GO:0044699	\N	\N	"\\nA biological process that involves only one organism.\\n" []	GO:0044699	"\\nA biological process that involves only one organism.\\n" []	71522	\N	\N	biological_process	0	EFO	single-organism process	single-organism process
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	GO:0044699	"\\nA biological process that involves only one organism.\\n" []	195001	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	biological_process	0	EFO	biological_process	single-organism process
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	GO:0044699	"\\nA biological process that involves only one organism.\\n" []	195002	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	biological_process	0	EFO	biological_process	single-organism process
GO:0044707	\N	\N	"\\nA biological process occurring within a single, multicellular organism.\\n" []	GO:0044707	"\\nA biological process occurring within a single, multicellular organism.\\n" []	71524	\N	\N	biological_process	0	EFO	single-multicellular organism process	single-multicellular organism process
GO:0032501	\N	\N	"Any biological process, occurring at the level of a multicellular organism, pertinent to its function." [GOC:curators, GOC:dph, GOC:isa_complete, GOC:tb]	GO:0044707	"\\nA biological process occurring within a single, multicellular organism.\\n" []	195006	\N	goslim_pir	biological_process	0	EFO	multicellular organismal process	single-multicellular organism process
GO:0044699	GO:0044707	\N	"\\nA biological process that involves only one organism.\\n" []	GO:0044707	"\\nA biological process occurring within a single, multicellular organism.\\n" []	226135	\N	\N	biological_process	1	EFO	single-organism process	single-multicellular organism process
GO:0044699	GO:0044707	\N	"\\nA biological process that involves only one organism.\\n" []	GO:0044707	"\\nA biological process occurring within a single, multicellular organism.\\n" []	226136	\N	\N	biological_process	1	EFO	single-organism process	single-multicellular organism process
GO:0044710	\N	\N	"\\nA metabolic process - chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances - which involves a single organism.\\n" []	GO:0044710	"\\nA metabolic process - chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances - which involves a single organism.\\n" []	71525	\N	\N	biological_process	0	EFO	single-organism metabolic process	single-organism metabolic process
GO:0008152	\N	\N	"The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation." [GOC:go_curators, ISBN:0198547684]	GO:0044710	"\\nA metabolic process - chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances - which involves a single organism.\\n" []	195007	\N	gocheck_do_not_manually_annotate,goslim_chembl,goslim_metagenomics,goslim_pir,goslim_plant,gosubset_prok	biological_process	0	EFO	metabolic process	single-organism metabolic process
GO:0008152	\N	\N	"The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation." [GOC:go_curators, ISBN:0198547684]	GO:0044710	"\\nA metabolic process - chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances - which involves a single organism.\\n" []	195008	\N	gocheck_do_not_manually_annotate,goslim_chembl,goslim_metagenomics,goslim_pir,goslim_plant,gosubset_prok	biological_process	0	EFO	metabolic process	single-organism metabolic process
GO:0044699	GO:0044710	\N	"\\nA biological process that involves only one organism.\\n" []	GO:0044710	"\\nA metabolic process - chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances - which involves a single organism.\\n" []	226137	\N	\N	biological_process	1	EFO	single-organism process	single-organism metabolic process
GO:0044763	\N	\N	"\\nAny process that is carried out at the cellular level, occurring within a single organism.\\n" []	GO:0044763	"\\nAny process that is carried out at the cellular level, occurring within a single organism.\\n" []	71526	\N	\N	biological_process	0	EFO	single-organism cellular process	single-organism cellular process
GO:0009987	\N	\N	"Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level." [GOC:go_curators, GOC:isa_complete]	GO:0044763	"\\nAny process that is carried out at the cellular level, occurring within a single organism.\\n" []	195009	\N	goslim_pir,goslim_plant,gosubset_prok	biological_process	0	EFO	cellular process	single-organism cellular process
GO:0009987	\N	\N	"Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level." [GOC:go_curators, GOC:isa_complete]	GO:0044763	"\\nAny process that is carried out at the cellular level, occurring within a single organism.\\n" []	195010	\N	goslim_pir,goslim_plant,gosubset_prok	biological_process	0	EFO	cellular process	single-organism cellular process
GO:0044699	GO:0044763	\N	"\\nA biological process that involves only one organism.\\n" []	GO:0044763	"\\nAny process that is carried out at the cellular level, occurring within a single organism.\\n" []	226138	\N	\N	biological_process	1	EFO	single-organism process	single-organism cellular process
GO:0044699	GO:0044763	\N	"\\nA biological process that involves only one organism.\\n" []	GO:0044763	"\\nAny process that is carried out at the cellular level, occurring within a single organism.\\n" []	226139	\N	\N	biological_process	1	EFO	single-organism process	single-organism cellular process
GO:0044767	\N	\N	"\\nA biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition, involving only one organism.\\n" []	GO:0044767	"\\nA biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition, involving only one organism.\\n" []	71528	\N	\N	biological_process	0	EFO	single-organism developmental process	single-organism developmental process
GO:0032502	\N	\N	"A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition." [GOC:isa_complete]	GO:0044767	"\\nA biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition, involving only one organism.\\n" []	195015	\N	goslim_agr,goslim_aspergillus,goslim_pir,gosubset_prok	biological_process	0	EFO	developmental process	single-organism developmental process
GO:0032502	\N	\N	"A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition." [GOC:isa_complete]	GO:0044767	"\\nA biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition, involving only one organism.\\n" []	195016	\N	goslim_agr,goslim_aspergillus,goslim_pir,gosubset_prok	biological_process	0	EFO	developmental process	single-organism developmental process
GO:0044699	GO:0044767	\N	"\\nA biological process that involves only one organism.\\n" []	GO:0044767	"\\nA biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition, involving only one organism.\\n" []	226140	\N	\N	biological_process	1	EFO	single-organism process	single-organism developmental process
GO:0044699	GO:0044767	\N	"\\nA biological process that involves only one organism.\\n" []	GO:0044767	"\\nA biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition, involving only one organism.\\n" []	226141	\N	\N	biological_process	1	EFO	single-organism process	single-organism developmental process
BTO:0000007	\N	\N	"\\nEstablished from a human primary embryonal kidney transformed by adenovirus type 5.\\n" []	BTO:0000007	"\\nEstablished from a human primary embryonal kidney transformed by adenovirus type 5.\\n" []	61880	\N	\N	BrendaTissueOBO	0	EFO	HEK-293 cell	HEK-293 cell
EFO:0001643	\N	\N	"" []	BTO:0000007	"\\nEstablished from a human primary embryonal kidney transformed by adenovirus type 5.\\n" []	193925	\N	\N	BrendaTissueOBO	0	EFO	kidney derived cell line	HEK-293 cell
EFO:0002888	\N	\N	"" []	BTO:0000007	"\\nEstablished from a human primary embryonal kidney transformed by adenovirus type 5.\\n" []	193926	\N	\N	BrendaTissueOBO	0	EFO	Homo sapiens cell line	HEK-293 cell
BTO:0000067	\N	\N	"" []	BTO:0000007	"\\nEstablished from a human primary embryonal kidney transformed by adenovirus type 5.\\n" []	193927	\N	\N	BrendaTissueOBO	0	EFO	kidney cell line	HEK-293 cell
BTO:0002733	\N	\N	"" []	BTO:0000007	"\\nEstablished from a human primary embryonal kidney transformed by adenovirus type 5.\\n" []	193928	\N	\N	BrendaTissueOBO	0	EFO	embryonic kidney cell line	HEK-293 cell
BTO:0000018	\N	\N	"\\nHuman lung carcinoma established from an explanted lung tumor which was removed from a 58-year-old Caucasian man in 1972; cells were described to induce tumors in athymic mice and to synthesize lecithin.\\n" []	BTO:0000018	"\\nHuman lung carcinoma established from an explanted lung tumor which was removed from a 58-year-old Caucasian man in 1972; cells were described to induce tumors in athymic mice and to synthesize lecithin.\\n" []	61881	\N	\N	BrendaTissueOBO	0	EFO	A-549 cell	A-549 cell
EFO:0002934	\N	\N	"" []	BTO:0000018	"\\nHuman lung carcinoma established from an explanted lung tumor which was removed from a 58-year-old Caucasian man in 1972; cells were described to induce tumors in athymic mice and to synthesize lecithin.\\n" []	193929	\N	\N	BrendaTissueOBO	0	EFO	lung cancer cell line	A-549 cell
BTO:0000762	\N	\N	"" []	BTO:0000018	"\\nHuman lung carcinoma established from an explanted lung tumor which was removed from a 58-year-old Caucasian man in 1972; cells were described to induce tumors in athymic mice and to synthesize lecithin.\\n" []	193930	\N	\N	BrendaTissueOBO	0	EFO	lung cancer cell line	A-549 cell
BTO:0004078	\N	\N	"" []	BTO:0000018	"\\nHuman lung carcinoma established from an explanted lung tumor which was removed from a 58-year-old Caucasian man in 1972; cells were described to induce tumors in athymic mice and to synthesize lecithin.\\n" []	193931	\N	\N	BrendaTissueOBO	0	EFO	non-small cell lung adenocarcinoma cell line	A-549 cell
BTO:0000152	\N	\N	"" []	BTO:0000152	"" []	61883	\N	\N	BrendaTissueOBO	0	EFO	infected cell	infected cell
BTO:0000214	\N	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	BTO:0000152	"" []	193934	\N	\N	BrendaTissueOBO	0	EFO	cell culture	infected cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	BTO:0000152	"" []	193935	\N	\N	BrendaTissueOBO	0	EFO	cell type	infected cell
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	BTO:0000164	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	61885	\N	\N	BrendaTissueOBO	0	EFO	Burkitt lymphoma cell	Burkitt lymphoma cell
EFO:0002937	\N	\N	"" []	BTO:0000164	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	193936	\N	\N	BrendaTissueOBO	0	EFO	lymphoma or leukaemia cell line	Burkitt lymphoma cell
BTO:0000785	\N	\N	"A tumor cell of lymphoid tissue." [s_Online_Dictionary_at_www.Merriam-Webster.com:http\\://www.m-w.com/cgi-bin/dictionary?book=Dictionary&va=lymphoma]	BTO:0000164	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	193937	\N	\N	BrendaTissueOBO	0	EFO	lymphoma cell	Burkitt lymphoma cell
BTO:0000238	\N	\N	"\\nEndothelial cell of or involving the cerebrum and the blood vessels supplying it.\\n" []	BTO:0000238	"\\nEndothelial cell of or involving the cerebrum and the blood vessels supplying it.\\n" []	61888	\N	\N	BrendaTissueOBO	0	EFO	cerebrovascular endothelial cell	cerebrovascular endothelial cell
CL:0000115	\N	\N	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	BTO:0000238	"\\nEndothelial cell of or involving the cerebrum and the blood vessels supplying it.\\n" []	193939	\N	\N	BrendaTissueOBO	0	EFO	endothelial cell	cerebrovascular endothelial cell
BTO:0000239	\N	\N	"An enlarged anterior or upper part of the brain; especially: the expanded anterior portion of the brain that in higher mammals overlies the rest of the brain, consists of cerebral hemispheres and connecting structures, and is considered to be the seat of conscious mental processes." [s_Online_Dictionary_at_www.Merriam-Webster.com:http\\://www.m-w.com/cgi-bin/dictionary?book=Dictionary&va=telencephalon]	BTO:0000238	"\\nEndothelial cell of or involving the cerebrum and the blood vessels supplying it.\\n" []	193940	\N	\N	BrendaTissueOBO	0	EFO	telencephalon	cerebrovascular endothelial cell
BTO:0001852	\N	\N	"" []	BTO:0000238	"\\nEndothelial cell of or involving the cerebrum and the blood vessels supplying it.\\n" []	193941	\N	\N	BrendaTissueOBO	0	EFO	cerebrovascular endothelium	cerebrovascular endothelial cell
BTO:0001854	\N	\N	"" []	BTO:0000238	"\\nEndothelial cell of or involving the cerebrum and the blood vessels supplying it.\\n" []	193942	\N	\N	BrendaTissueOBO	0	EFO	vascular endothelial cell	cerebrovascular endothelial cell
BTO:0000256	\N	\N	"Cell lines derived from myoblast cells" []	BTO:0000256	"Cell lines derived from myoblast cells" []	61889	\N	\N	BrendaTissueOBO	0	EFO	myoblast cell line	myoblast cell line
EFO:0000322	\N	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	BTO:0000256	"Cell lines derived from myoblast cells" []	193943	\N	\N	BrendaTissueOBO	0	EFO	cell line	myoblast cell line
BTO:0000281	\N	\N	"A specialized fungal hypha that produces conidia." []	BTO:0000281	"A specialized fungal hypha that produces conidia." []	61890	\N	\N	BrendaTissueOBO	0	EFO	conidiophore	conidiophore
EFO:0000788	\N	\N	"" []	BTO:0000281	"A specialized fungal hypha that produces conidia." []	193944	\N	\N	BrendaTissueOBO	0	EFO	fungal component	conidiophore
BTO:0000612	\N	\N	"1: One of the filaments or threads composing the mycelium of a fungus. 2: Branching filamentous outgrowths produced by certain bacteria (e.g., Actinomyces, Hyphomicrobium), sometimes forming a mycelium." [Dorlands_Medical_Dictionary:MerckSource]	BTO:0000281	"A specialized fungal hypha that produces conidia." []	193945	\N	\N	BrendaTissueOBO	0	EFO	hypha	conidiophore
BTO:0000305	\N	\N	"\\nA crypt is a deep pit that protrudes down into the connective tissue surrounding the small intestine. The epithelium at the base of the crypt is the site of stem cell proliferation and the differentiated cells move upwards and are shed 3-5 days later at the tips of the villi.\\n" []	BTO:0000305	"\\nA crypt is a deep pit that protrudes down into the connective tissue surrounding the small intestine. The epithelium at the base of the crypt is the site of stem cell proliferation and the differentiated cells move upwards and are shed 3-5 days later at the tips of the villi.\\n" []	61891	\N	\N	BrendaTissueOBO	0	EFO	crypt	crypt
EFO:0000787	\N	\N	"" []	BTO:0000305	"\\nA crypt is a deep pit that protrudes down into the connective tissue surrounding the small intestine. The epithelium at the base of the crypt is the site of stem cell proliferation and the differentiated cells move upwards and are shed 3-5 days later at the tips of the villi.\\n" []	193946	\N	\N	BrendaTissueOBO	0	EFO	animal component	crypt
BTO:0000651	\N	\N	"The part of the intestine that lies between the stomach and colon, consists of duodenum, jejunum, and ileum, secretes digestive enzymes, and is the chief site of the absorption of digested nutrients. The proximal portion of the intestine." [s_Online_Dictionary_at_www.Merriam-Webster.com:http\\://www.m-w.com/cgi-bin/dictionary?book=Dictionary&va=small+intestine]	BTO:0000305	"\\nA crypt is a deep pit that protrudes down into the connective tissue surrounding the small intestine. The epithelium at the base of the crypt is the site of stem cell proliferation and the differentiated cells move upwards and are shed 3-5 days later at the tips of the villi.\\n" []	193947	\N	\N	BrendaTissueOBO	0	EFO	small intestine	crypt
BTO:0000377	\N	\N	"\\nThe infectious form of chlamydiaceae. Infection occurs when the small, rigid-walled extracellular form (elementary body) enters the cell and changes into a larger, thin-walled form (initial body) that divides by fission. The daughter cells thus formed reorganize and condense to become elementary bodies that then infect other cells. The organisms are parasites of humans and other vertebrates, capable of producing a variety of diseases. They have also been found in arthropods. The family contains the genus Chlamydia.\\n" []	BTO:0000377	"\\nThe infectious form of chlamydiaceae. Infection occurs when the small, rigid-walled extracellular form (elementary body) enters the cell and changes into a larger, thin-walled form (initial body) that divides by fission. The daughter cells thus formed reorganize and condense to become elementary bodies that then infect other cells. The organisms are parasites of humans and other vertebrates, capable of producing a variety of diseases. They have also been found in arthropods. The family contains the genus Chlamydia.\\n" []	61893	\N	\N	BrendaTissueOBO	0	EFO	elementary body	elementary body
EFO:0000787	\N	\N	"" []	BTO:0000377	"\\nThe infectious form of chlamydiaceae. Infection occurs when the small, rigid-walled extracellular form (elementary body) enters the cell and changes into a larger, thin-walled form (initial body) that divides by fission. The daughter cells thus formed reorganize and condense to become elementary bodies that then infect other cells. The organisms are parasites of humans and other vertebrates, capable of producing a variety of diseases. They have also been found in arthropods. The family contains the genus Chlamydia.\\n" []	193949	\N	\N	BrendaTissueOBO	0	EFO	animal component	elementary body
BTO:0000284	\N	\N	"" []	BTO:0000377	"\\nThe infectious form of chlamydiaceae. Infection occurs when the small, rigid-walled extracellular form (elementary body) enters the cell and changes into a larger, thin-walled form (initial body) that divides by fission. The daughter cells thus formed reorganize and condense to become elementary bodies that then infect other cells. The organisms are parasites of humans and other vertebrates, capable of producing a variety of diseases. They have also been found in arthropods. The family contains the genus Chlamydia.\\n" []	193950	\N	\N	BrendaTissueOBO	0	EFO	organism form	elementary body
BTO:0000381	\N	\N	"" []	BTO:0000381	"" []	61894	\N	\N	BrendaTissueOBO	0	EFO	embryonic blood	embryonic blood
EFO:0000787	\N	\N	"" []	BTO:0000381	"" []	193951	\N	\N	BrendaTissueOBO	0	EFO	animal component	embryonic blood
BTO:0000089	\N	\N	"1: The fluid that circulates in the heart, arteries, capillaries, and veins of a vertebrate animal carrying nourishment and oxygen to and bringing away waste products from all parts of the body. 2: A comparable fluid of an invertebrate." [s_Online_Dictionary_at_www.Merriam-Webster.com:http\\://www.m-w.com/cgi-bin/dictionary?book=Dictionary&va=blood]	BTO:0000381	"" []	193952	\N	\N	BrendaTissueOBO	0	EFO	blood	embryonic blood
BTO:0000379	\N	\N	"An animal in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems; especially: the developing human individual from the time of implantation to the end of the eighth week after conception." [s_Online_Dictionary_at_www.Merriam-Webster.com:http\\://www.m-w.com/cgi-bin/dictionary?book=Dictionary&va=embryo]	BTO:0000381	"" []	193953	\N	\N	BrendaTissueOBO	0	EFO	embryo	embryonic blood
BTO:0000407	\N	\N	"\\nCell line of a malignant neoplasm of the bone-forming tissues.\\n" []	BTO:0000407	"\\nCell line of a malignant neoplasm of the bone-forming tissues.\\n" []	61896	\N	\N	BrendaTissueOBO	0	EFO	osteosarcoma cell line	osteosarcoma cell line
EFO:0001639	\N	\N	"" []	BTO:0000407	"\\nCell line of a malignant neoplasm of the bone-forming tissues.\\n" []	193955	\N	\N	BrendaTissueOBO	0	EFO	cancer cell line	osteosarcoma cell line
BTO:0000385	\N	\N	"" []	BTO:0000407	"\\nCell line of a malignant neoplasm of the bone-forming tissues.\\n" []	193956	\N	\N	BrendaTissueOBO	0	EFO	bone cancer cell line	osteosarcoma cell line
BTO:0000426	\N	\N	"\\nCancer cell of the blood-forming tissues in which large numbers of immature, abnormal red blood cells are found in the blood and bone marrow.\\n" []	BTO:0000426	"\\nCancer cell of the blood-forming tissues in which large numbers of immature, abnormal red blood cells are found in the blood and bone marrow.\\n" []	61897	\N	\N	BrendaTissueOBO	0	EFO	erythroleukemia cell	erythroleukemia cell
EFO:0005934	\N	\N	"" []	BTO:0000426	"\\nCancer cell of the blood-forming tissues in which large numbers of immature, abnormal red blood cells are found in the blood and bone marrow.\\n" []	193957	\N	\N	BrendaTissueOBO	0	EFO	disease cell type	erythroleukemia cell
BTO:0001271	\N	\N	"A cancer cell of the white blood cells. Leukaemias are grouped by how quickly the disease develops (acute or chronic) as well as by the type of blood cell that is affected." [Online_Medical_Dictionary:http\\://cancerweb.ncl.ac.uk/]	BTO:0000426	"\\nCancer cell of the blood-forming tissues in which large numbers of immature, abnormal red blood cells are found in the blood and bone marrow.\\n" []	193958	\N	\N	BrendaTissueOBO	0	EFO	leukemia cell	erythroleukemia cell
BTO:0000583	BTO:0000426	\N	"" []	BTO:0000426	"\\nCancer cell of the blood-forming tissues in which large numbers of immature, abnormal red blood cells are found in the blood and bone marrow.\\n" []	226142	\N	\N	BrendaTissueOBO	1	EFO	bone marrow cancer cell	erythroleukemia cell
BTO:0000488	\N	\N	"\\nThe epidermal layer directed away or outwards from the axis.\\n" []	BTO:0000488	"\\nThe epidermal layer directed away or outwards from the axis.\\n" []	61898	\N	\N	BrendaTissueOBO	0	EFO	lower epidermis	lower epidermis
EFO:0000787	\N	\N	"" []	BTO:0000488	"\\nThe epidermal layer directed away or outwards from the axis.\\n" []	193959	\N	\N	BrendaTissueOBO	0	EFO	animal component	lower epidermis
BTO:0000718	\N	\N	"The blade consists of an upper and a lower layer of closely fitted epidermal cells, including specialized paired guard cells that control the size of tiny pores, or stomata, for gaseous exchange and the release of water vapor (see transpiration). The upper epidermis is usually coated with a waterproof cuticle and contains fewer stomata than the underside, if any at all." [The_Columbia_Encyclopedia:Sixth_Edition._2001]	BTO:0000488	"\\nThe epidermal layer directed away or outwards from the axis.\\n" []	193960	\N	\N	BrendaTissueOBO	0	EFO	leaf epidermis	lower epidermis
BTO:0000515	\N	\N	"\\nA food-absorbing outgrowth of a plant organ (as a hypha or stem).\\n" []	BTO:0000515	"\\nA food-absorbing outgrowth of a plant organ (as a hypha or stem).\\n" []	61899	\N	\N	BrendaTissueOBO	0	EFO	haustorium	haustorium
EFO:0000788	\N	\N	"" []	BTO:0000515	"\\nA food-absorbing outgrowth of a plant organ (as a hypha or stem).\\n" []	193961	\N	\N	BrendaTissueOBO	0	EFO	fungal component	haustorium
BTO:0001461	\N	\N	"The main part of a plant." [s_Online_Dictionary_at_www.Merriam-Webster.com:http\\://www.merriam-webster.com/dictionary/va=body]	BTO:0000515	"\\nA food-absorbing outgrowth of a plant organ (as a hypha or stem).\\n" []	193962	\N	\N	BrendaTissueOBO	0	EFO	whole plant	haustorium
BTO:0001494	\N	\N	"Any of a major group (Fungi) of saprophytic and parasitic spore-producing organisms including molds, rusts, mildews, smuts, mushrooms, and yeasts." [s_Online_Dictionary_at_www.Merriam-Webster.com:http\\://www.m-w.com/cgi-bin/dictionary?book=Dictionary&va=fungus]	BTO:0000515	"\\nA food-absorbing outgrowth of a plant organ (as a hypha or stem).\\n" []	193963	\N	\N	BrendaTissueOBO	0	EFO	fungus	haustorium
BTO:0000583	\N	\N	"" []	BTO:0000583	"" []	61901	\N	\N	BrendaTissueOBO	0	EFO	bone marrow cancer cell	bone marrow cancer cell
CL:0000988	\N	\N	"A cell of a hematopoietic lineage." []	BTO:0000583	"" []	193964	\N	\N	BrendaTissueOBO	0	EFO	hematopoietic cell	bone marrow cancer cell
EFO:0005934	\N	\N	"" []	BTO:0000583	"" []	193965	\N	\N	BrendaTissueOBO	0	EFO	disease cell type	bone marrow cancer cell
BTO:0000690	\N	\N	"" []	BTO:0000690	"" []	61902	\N	\N	BrendaTissueOBO	0	EFO	brain cancer cell line	brain cancer cell line
EFO:0001639	\N	\N	"" []	BTO:0000690	"" []	193966	\N	\N	BrendaTissueOBO	0	EFO	cancer cell line	brain cancer cell line
BTO:0000255	\N	\N	"" []	BTO:0000690	"" []	193967	\N	\N	BrendaTissueOBO	0	EFO	brain cell line	brain cancer cell line
BTO:0000740	\N	\N	"\\nA cell line of leukemia characterized by proliferation of myeloid tissue (as of the bone marrow and spleen) and an abnormal increase in the number of granulocytes, myelocytes, and myeloblasts in the circulating blood.\\n" []	BTO:0000740	"\\nA cell line of leukemia characterized by proliferation of myeloid tissue (as of the bone marrow and spleen) and an abnormal increase in the number of granulocytes, myelocytes, and myeloblasts in the circulating blood.\\n" []	61903	\N	\N	BrendaTissueOBO	0	EFO	myeloid leukemia cell line	myeloid leukemia cell line
EFO:0002937	\N	\N	"" []	BTO:0000740	"\\nA cell line of leukemia characterized by proliferation of myeloid tissue (as of the bone marrow and spleen) and an abnormal increase in the number of granulocytes, myelocytes, and myeloblasts in the circulating blood.\\n" []	193968	\N	\N	BrendaTissueOBO	0	EFO	lymphoma or leukaemia cell line	myeloid leukemia cell line
BTO:0000737	\N	\N	"" []	BTO:0000740	"\\nA cell line of leukemia characterized by proliferation of myeloid tissue (as of the bone marrow and spleen) and an abnormal increase in the number of granulocytes, myelocytes, and myeloblasts in the circulating blood.\\n" []	193969	\N	\N	BrendaTissueOBO	0	EFO	leukemia cell line	myeloid leukemia cell line
BTO:0000797	\N	\N	"" []	BTO:0000797	"" []	61904	\N	\N	BrendaTissueOBO	0	EFO	colonic cancer cell line	colonic cancer cell line
EFO:0000322	\N	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	BTO:0000797	"" []	193970	\N	\N	BrendaTissueOBO	0	EFO	cell line	colonic cancer cell line
BTO:0000188	\N	\N	"" []	BTO:0000797	"" []	193971	\N	\N	BrendaTissueOBO	0	EFO	colonic cell line	colonic cancer cell line
BTO:0001030	\N	\N	"\\nMouse, BALB/c, blood, not defined tumor cell line. Recloned from J774.1 original ascites and solid tumour. Produces IL-1.\\n" []	BTO:0001030	"\\nMouse, BALB/c, blood, not defined tumor cell line. Recloned from J774.1 original ascites and solid tumour. Produces IL-1.\\n" []	61906	\N	\N	BrendaTissueOBO	0	EFO	J774.2 cell	J774.2 cell
BTO:0002279	BTO:0001030	\N	"Mouse macrophage cell line." []	BTO:0001030	"\\nMouse, BALB/c, blood, not defined tumor cell line. Recloned from J774.1 original ascites and solid tumour. Produces IL-1.\\n" []	226143	\N	\N	BrendaTissueOBO	1	EFO	J-774 cell	J774.2 cell
BTO:0002279	BTO:0001030	\N	"Mouse macrophage cell line." []	BTO:0001030	"\\nMouse, BALB/c, blood, not defined tumor cell line. Recloned from J774.1 original ascites and solid tumour. Produces IL-1.\\n" []	226144	\N	\N	BrendaTissueOBO	1	EFO	J-774 cell	J774.2 cell
BTO:0002278	BTO:0002279	\N	"" []	BTO:0001030	"\\nMouse, BALB/c, blood, not defined tumor cell line. Recloned from J774.1 original ascites and solid tumour. Produces IL-1.\\n" []	582194	\N	\N	BrendaTissueOBO	2	EFO	macrophage cell line	J774.2 cell
BTO:0001033	\N	\N	"" []	BTO:0001033	"" []	61907	\N	\N	BrendaTissueOBO	0	EFO	prostate cancer cell line	prostate cancer cell line
EFO:0001639	\N	\N	"" []	BTO:0001033	"" []	193972	\N	\N	BrendaTissueOBO	0	EFO	cancer cell line	prostate cancer cell line
BTO:0001019	\N	\N	"" []	BTO:0001033	"" []	193973	\N	\N	BrendaTissueOBO	0	EFO	prostate gland cell line	prostate cancer cell line
BTO:0001093	\N	\N	"\\nMouse, BALB/cxNZB F1, lymphoblastic lymphoma cell line. Morphology: Lymphoblast Mouse B cell lymphoma.\\n" []	BTO:0001093	"\\nMouse, BALB/cxNZB F1, lymphoblastic lymphoma cell line. Morphology: Lymphoblast Mouse B cell lymphoma.\\n" []	61909	\N	\N	BrendaTissueOBO	0	EFO	WEHI-231 cell	WEHI-231 cell
EFO:0002887	\N	\N	"Cell lines derived from mice." []	BTO:0001093	"\\nMouse, BALB/cxNZB F1, lymphoblastic lymphoma cell line. Morphology: Lymphoblast Mouse B cell lymphoma.\\n" []	193974	\N	\N	BrendaTissueOBO	0	EFO	mouse cell line	WEHI-231 cell
BTO:0001518	BTO:0001093	\N	"" []	BTO:0001093	"\\nMouse, BALB/cxNZB F1, lymphoblastic lymphoma cell line. Morphology: Lymphoblast Mouse B cell lymphoma.\\n" []	226145	\N	\N	BrendaTissueOBO	1	EFO	B-lymphoma cell line	WEHI-231 cell
BTO:0001130	\N	\N	"\\nA malignant tumour cell of glandular origin in the prostate. Over 95% are adenocarcinomas.\\n" []	BTO:0001130	"\\nA malignant tumour cell of glandular origin in the prostate. Over 95% are adenocarcinomas.\\n" []	61910	\N	\N	BrendaTissueOBO	0	EFO	prostate gland cancer cell	prostate gland cancer cell
EFO:0005934	\N	\N	"" []	BTO:0001130	"\\nA malignant tumour cell of glandular origin in the prostate. Over 95% are adenocarcinomas.\\n" []	193975	\N	\N	BrendaTissueOBO	0	EFO	disease cell type	prostate gland cancer cell
BTO:0001205	\N	\N	"\\nRat, nervous system, immature, Schwann cell derived cell line.\\n" []	BTO:0001205	"\\nRat, nervous system, immature, Schwann cell derived cell line.\\n" []	61911	\N	\N	BrendaTissueOBO	0	EFO	RT4-D6P2T cell	RT4-D6P2T cell
EFO:0002936	\N	\N	"Cell lines derived from rats." []	BTO:0001205	"\\nRat, nervous system, immature, Schwann cell derived cell line.\\n" []	193976	\N	\N	BrendaTissueOBO	0	EFO	rat cell line	RT4-D6P2T cell
BTO:0000872	\N	\N	"" []	BTO:0001205	"\\nRat, nervous system, immature, Schwann cell derived cell line.\\n" []	193977	\N	\N	BrendaTissueOBO	0	EFO	oligodendrocytic cell line	RT4-D6P2T cell
BTO:0001216	\N	\N	"" []	BTO:0001205	"\\nRat, nervous system, immature, Schwann cell derived cell line.\\n" []	193978	\N	\N	BrendaTissueOBO	0	EFO	Schwann cell line	RT4-D6P2T cell
BTO:0001518	\N	\N	"" []	BTO:0001518	"" []	61916	\N	\N	BrendaTissueOBO	0	EFO	B-lymphoma cell line	B-lymphoma cell line
EFO:0002937	\N	\N	"" []	BTO:0001518	"" []	193983	\N	\N	BrendaTissueOBO	0	EFO	lymphoma or leukaemia cell line	B-lymphoma cell line
BTO:0000104	\N	\N	"Lymphoma means any neoplastic disorder of the lymphoid tissue." [Dorlands_Medical_Dictionary:MerckSource]	BTO:0001518	"" []	193984	\N	\N	BrendaTissueOBO	0	EFO	lymphoma cell line	B-lymphoma cell line
BTO:0001615	\N	\N	"" []	BTO:0001615	"" []	61917	\N	\N	BrendaTissueOBO	0	EFO	colorectal cancer cell	colorectal cancer cell
EFO:0005934	\N	\N	"" []	BTO:0001615	"" []	193985	\N	\N	BrendaTissueOBO	0	EFO	disease cell type	colorectal cancer cell
BTO:0001616	\N	\N	"" []	BTO:0001616	"" []	61918	\N	\N	BrendaTissueOBO	0	EFO	colorectal cancer cell line	colorectal cancer cell line
EFO:0001639	\N	\N	"" []	BTO:0001616	"" []	193986	\N	\N	BrendaTissueOBO	0	EFO	cancer cell line	colorectal cancer cell line
BTO:0001532	\N	\N	"" []	BTO:0001616	"" []	193987	\N	\N	BrendaTissueOBO	0	EFO	rectal cancer cell line	colorectal cancer cell line
BTO:0001614	\N	\N	"" []	BTO:0001616	"" []	193988	\N	\N	BrendaTissueOBO	0	EFO	colorectal cell line	colorectal cancer cell line
BTO:0000797	BTO:0001616	\N	"" []	BTO:0001616	"" []	226146	\N	\N	BrendaTissueOBO	1	EFO	colonic cancer cell line	colorectal cancer cell line
BTO:0001708	\N	\N	"\\nCoelomic fluid probably aids in oxygen transport and may contain some cells with hemoglobin.\\n" []	BTO:0001708	"\\nCoelomic fluid probably aids in oxygen transport and may contain some cells with hemoglobin.\\n" []	61919	\N	\N	BrendaTissueOBO	0	EFO	coelomic fluid	coelomic fluid
UBERON:0006314	\N	\N	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	BTO:0001708	"\\nCoelomic fluid probably aids in oxygen transport and may contain some cells with hemoglobin.\\n" []	193989	\N	\N	BrendaTissueOBO	0	EFO	bodily fluid	coelomic fluid
BTO:0001795	\N	\N	"" []	BTO:0001795	"" []	61920	\N	\N	BrendaTissueOBO	0	EFO	anterior silk gland	anterior silk gland
UBERON:0011146	\N	\N	"\\nAny of the glands in silk-spinning insects and spiders that secrete a protein liquid that hardens into silk on exposure to air.\\n" []	BTO:0001795	"" []	193990	\N	\N	BrendaTissueOBO	0	EFO	silk gland	anterior silk gland
BTO:0001250	\N	\N	"Any of the glands in silk-spinning insects and spiders that secrete a protein liquid that hardens into silk on exposure to air." [The_American_Heritage_Dictionary_of_the_English_Language:Fourth_Edition._2000.]	BTO:0001795	"" []	193991	\N	\N	BrendaTissueOBO	0	EFO	silk gland	anterior silk gland
BTO:0001948	\N	\N	"Human, blood, leukemia, T cell line, clone E6.1." []	BTO:0001948	"Human, blood, leukemia, T cell line, clone E6.1." []	61924	\N	\N	BrendaTissueOBO	0	EFO	JURKAT E-6.1 cell	JURKAT E-6.1 cell
EFO:0002888	\N	\N	"" []	BTO:0001948	"Human, blood, leukemia, T cell line, clone E6.1." []	193992	\N	\N	BrendaTissueOBO	0	EFO	Homo sapiens cell line	JURKAT E-6.1 cell
BTO:0001967	\N	\N	"" []	BTO:0001967	"" []	61925	\N	\N	BrendaTissueOBO	0	EFO	cervical cancer cell line	cervical cancer cell line
EFO:0001639	\N	\N	"" []	BTO:0001967	"" []	193993	\N	\N	BrendaTissueOBO	0	EFO	cancer cell line	cervical cancer cell line
BTO:0001966	\N	\N	"" []	BTO:0001967	"" []	193994	\N	\N	BrendaTissueOBO	0	EFO	cervical cell line	cervical cancer cell line
BTO:0002178	\N	\N	"\\"Human Mammary Epithelial Cells (HMEpC) are derived from normal adult mammary glands.\\" [Cell Applications Inc.:http\\\\://cellapplications.com/]" []	BTO:0002178	"\\"Human Mammary Epithelial Cells (HMEpC) are derived from normal adult mammary glands.\\" [Cell Applications Inc.:http\\\\://cellapplications.com/]" []	61926	\N	\N	BrendaTissueOBO	0	EFO	HMEpC cell	HMEpC cell
EFO:0002884	\N	\N	"" []	BTO:0002178	"\\"Human Mammary Epithelial Cells (HMEpC) are derived from normal adult mammary glands.\\" [Cell Applications Inc.:http\\\\://cellapplications.com/]" []	193995	\N	\N	BrendaTissueOBO	0	EFO	mammary gland cell line	HMEpC cell
BTO:0002768	\N	\N	"" []	BTO:0002178	"\\"Human Mammary Epithelial Cells (HMEpC) are derived from normal adult mammary glands.\\" [Cell Applications Inc.:http\\\\://cellapplications.com/]" []	193996	\N	\N	BrendaTissueOBO	0	EFO	mammary epithelial cell line	HMEpC cell
BTO:0002179	\N	\N	"\\"The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene.\\" [PMID:15827326]" []	BTO:0002179	"\\"The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene.\\" [PMID:15827326]" []	61927	\N	\N	BrendaTissueOBO	0	EFO	184A1N4 cell	184A1N4 cell
EFO:0002884	\N	\N	"" []	BTO:0002179	"\\"The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene.\\" [PMID:15827326]" []	193997	\N	\N	BrendaTissueOBO	0	EFO	mammary gland cell line	184A1N4 cell
BTO:0002180	\N	\N	"\\"The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene.\\" [PMID:15827326]" []	BTO:0002180	"\\"The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene.\\" [PMID:15827326]" []	61928	\N	\N	BrendaTissueOBO	0	EFO	184B5 cell	184B5 cell
EFO:0002884	\N	\N	"" []	BTO:0002180	"\\"The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene.\\" [PMID:15827326]" []	193998	\N	\N	BrendaTissueOBO	0	EFO	mammary gland cell line	184B5 cell
BTO:0002278	\N	\N	"" []	BTO:0002278	"" []	61930	\N	\N	BrendaTissueOBO	0	EFO	macrophage cell line	macrophage cell line
EFO:0000322	\N	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	BTO:0002278	"" []	193999	\N	\N	BrendaTissueOBO	0	EFO	cell line	macrophage cell line
BTO:0001035	\N	\N	"" []	BTO:0002278	"" []	194000	\N	\N	BrendaTissueOBO	0	EFO	hematopoietic cell line	macrophage cell line
BTO:0002279	\N	\N	"Mouse macrophage cell line." []	BTO:0002279	"Mouse macrophage cell line." []	61931	\N	\N	BrendaTissueOBO	0	EFO	J-774 cell	J-774 cell
EFO:0002887	\N	\N	"Cell lines derived from mice." []	BTO:0002279	"Mouse macrophage cell line." []	194001	\N	\N	BrendaTissueOBO	0	EFO	mouse cell line	J-774 cell
BTO:0002278	BTO:0002279	\N	"" []	BTO:0002279	"Mouse macrophage cell line." []	226147	\N	\N	BrendaTissueOBO	1	EFO	macrophage cell line	J-774 cell
BTO:0002488	\N	\N	"" []	BTO:0002488	"" []	61932	\N	\N	BrendaTissueOBO	0	EFO	uterine leiomyosarcoma cell line	uterine leiomyosarcoma cell line
EFO:0001639	\N	\N	"" []	BTO:0002488	"" []	194002	\N	\N	BrendaTissueOBO	0	EFO	cancer cell line	uterine leiomyosarcoma cell line
BTO:0002595	\N	\N	"" []	BTO:0002488	"" []	194003	\N	\N	BrendaTissueOBO	0	EFO	leiomyosarcoma cell line	uterine leiomyosarcoma cell line
BTO:0002599	\N	\N	"\\"Rat brain-derived type-2 astrocyte cell line.\\" [PMID:14575868]" []	BTO:0002599	"\\"Rat brain-derived type-2 astrocyte cell line.\\" [PMID:14575868]" []	61933	\N	\N	BrendaTissueOBO	0	EFO	RBA-2 cell	RBA-2 cell
EFO:0002936	\N	\N	"Cell lines derived from rats." []	BTO:0002599	"\\"Rat brain-derived type-2 astrocyte cell line.\\" [PMID:14575868]" []	194004	\N	\N	BrendaTissueOBO	0	EFO	rat cell line	RBA-2 cell
BTO:0002600	\N	\N	"" []	BTO:0002599	"\\"Rat brain-derived type-2 astrocyte cell line.\\" [PMID:14575868]" []	194005	\N	\N	BrendaTissueOBO	0	EFO	astrocyte cell line	RBA-2 cell
BTO:0003250	\N	\N	"" []	BTO:0003250	"" []	61937	\N	\N	BrendaTissueOBO	0	EFO	colonic epithelium cell line	colonic epithelium cell line
EFO:0001641	\N	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	BTO:0003250	"" []	194010	\N	\N	BrendaTissueOBO	0	EFO	epithelial cell derived cell line	colonic epithelium cell line
BTO:0003264	\N	\N	"\\nA cardiac muscle cell line from the AT-1 mouse atrial cardiomyocyte tumor lineage; established from an adult female Jackson Laboratory-inbred C57BLy6J mouse.\\n" []	BTO:0003264	"\\nA cardiac muscle cell line from the AT-1 mouse atrial cardiomyocyte tumor lineage; established from an adult female Jackson Laboratory-inbred C57BLy6J mouse.\\n" []	61938	\N	\N	BrendaTissueOBO	0	EFO	HL-1 cell	HL-1 cell
EFO:0002887	\N	\N	"Cell lines derived from mice." []	BTO:0003264	"\\nA cardiac muscle cell line from the AT-1 mouse atrial cardiomyocyte tumor lineage; established from an adult female Jackson Laboratory-inbred C57BLy6J mouse.\\n" []	194011	\N	\N	BrendaTissueOBO	0	EFO	mouse cell line	HL-1 cell
BTO:0003265	\N	\N	"" []	BTO:0003264	"\\nA cardiac muscle cell line from the AT-1 mouse atrial cardiomyocyte tumor lineage; established from an adult female Jackson Laboratory-inbred C57BLy6J mouse.\\n" []	194012	\N	\N	BrendaTissueOBO	0	EFO	cardiac muscle cell line	HL-1 cell
BTO:0004263	\N	\N	"\\"A differentiating cell line, established from the mouse myoblastic cell line C2C12.\\" [PMID:9227903]" []	BTO:0004263	"\\"A differentiating cell line, established from the mouse myoblastic cell line C2C12.\\" [PMID:9227903]" []	61941	\N	\N	BrendaTissueOBO	0	EFO	COM-3 cell	COM-3 cell
BTO:0000256	BTO:0004263	\N	"Cell lines derived from myoblast cells" []	BTO:0004263	"\\"A differentiating cell line, established from the mouse myoblastic cell line C2C12.\\" [PMID:9227903]" []	226148	\N	\N	BrendaTissueOBO	1	EFO	myoblast cell line	COM-3 cell
BTO:0004264	\N	\N	"\\"A non-differentiating cell line, established from the mouse myoblastic cell line C2C12.\\" [PMID:9227903]" []	BTO:0004264	"\\"A non-differentiating cell line, established from the mouse myoblastic cell line C2C12.\\" [PMID:9227903]" []	61942	\N	\N	BrendaTissueOBO	0	EFO	INC-2 cell	INC-2 cell
EFO:0002887	\N	\N	"Cell lines derived from mice." []	BTO:0004264	"\\"A non-differentiating cell line, established from the mouse myoblastic cell line C2C12.\\" [PMID:9227903]" []	194015	\N	\N	BrendaTissueOBO	0	EFO	mouse cell line	INC-2 cell
BTO:0004578	\N	\N	"" []	BTO:0004578	"" []	61944	\N	\N	BrendaTissueOBO	0	EFO	vascular smooth muscle cell	vascular smooth muscle cell
EFO:0002956	\N	\N	"" []	BTO:0004578	"" []	194017	\N	\N	BrendaTissueOBO	0	EFO	musculo-skeletal system cell	vascular smooth muscle cell
BTO:0001431	\N	\N	"" []	BTO:0004578	"" []	194018	\N	\N	BrendaTissueOBO	0	EFO	vascular smooth muscle	vascular smooth muscle cell
BTO:0005136	\N	\N	"Mouse embryonic stem cell line." []	BTO:0005136	"Mouse embryonic stem cell line." []	61946	\N	\N	BrendaTissueOBO	0	EFO	ES-E14 cell	ES-E14 cell
EFO:0002886	\N	\N	"Cell lines derived from stem cells." []	BTO:0005136	"Mouse embryonic stem cell line." []	194020	\N	\N	BrendaTissueOBO	0	EFO	stem cell derived cell line	ES-E14 cell
BTO:0001581	\N	\N	"" []	BTO:0005136	"Mouse embryonic stem cell line." []	194021	\N	\N	BrendaTissueOBO	0	EFO	embryonic stem cell line	ES-E14 cell
BTO:0005339	\N	\N	"\\nEstablished melanoma cell line from the Skin Cancer Unit at the German Cancer Research Center, Heidelberg.\\n" []	BTO:0005339	"\\nEstablished melanoma cell line from the Skin Cancer Unit at the German Cancer Research Center, Heidelberg.\\n" []	61947	\N	\N	BrendaTissueOBO	0	EFO	Ma-Mel-11 cell	Ma-Mel-11 cell
BTO:0000849	\N	\N	"" []	BTO:0005339	"\\nEstablished melanoma cell line from the Skin Cancer Unit at the German Cancer Research Center, Heidelberg.\\n" []	194022	\N	\N	BrendaTissueOBO	0	EFO	melanoma cell line	Ma-Mel-11 cell
BTO:0000849	\N	\N	"" []	BTO:0005339	"\\nEstablished melanoma cell line from the Skin Cancer Unit at the German Cancer Research Center, Heidelberg.\\n" []	194023	\N	\N	BrendaTissueOBO	0	EFO	melanoma cell line	Ma-Mel-11 cell
CL:0000000	\N	\N	"A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. [ CARO:mah ] " []	CL:0000000	"A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. [ CARO:mah ] " []	62864	\N	\N	cell	0	EFO	cell	cell
GO:0005575	\N	\N	"The part of a cell, extracellular environment or virus in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together." [GOC:go_curators, NIF_Subcellular:sao-1337158144]	CL:0000000	"A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. [ CARO:mah ] " []	194026	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_yeast,gosubset_prok	cell	0	EFO	cellular_component	cell
CL:0000211	\N	\N	"\\nA cell whose function is determined by the generation or the reception of an electric signal.\\n" []	CL:0000211	"\\nA cell whose function is determined by the generation or the reception of an electric signal.\\n" []	62924	\N	\N	cell	0	EFO	electrically active cell	electrically active cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000211	"\\nA cell whose function is determined by the generation or the reception of an electric signal.\\n" []	194097	\N	\N	cell	0	EFO	cell type	electrically active cell
CL:0000003	\N	\N	"A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment)." [CARO:mah]	CL:0000211	"\\nA cell whose function is determined by the generation or the reception of an electric signal.\\n" []	194098	\N	ubprop_upper_level	cell	0	EFO	native cell	electrically active cell
CL:0000286	\N	\N	"A cell of a filament of a fungal mycelium." []	CL:0000286	"A cell of a filament of a fungal mycelium." []	62934	\N	\N	cell	0	EFO	hyphal cell	hyphal cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000286	"A cell of a filament of a fungal mycelium." []	194109	\N	\N	cell	0	EFO	cell type	hyphal cell
CL:0000521	CL:0000286	\N	"" []	CL:0000286	"A cell of a filament of a fungal mycelium." []	226130	\N	\N	cell	1	EFO	fungal cell	hyphal cell
CL:0000398	\N	\N	"" []	CL:0000398	"" []	62953	\N	\N	cell	0	EFO	polygonal cell	polygonal cell
CL:0000387	\N	\N	"A blood cell especially of an invertebrate animal." []	CL:0000398	"" []	194127	\N	\N	cell	0	EFO	hemocyte	polygonal cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000398	"" []	194128	\N	\N	cell	0	EFO	cell type	polygonal cell
CL:0000415	\N	\N	"A cell whose nucleus has two haploid genomes." []	CL:0000415	"A cell whose nucleus has two haploid genomes." []	62954	\N	\N	cell	0	EFO	diploid cell	diploid cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000415	"A cell whose nucleus has two haploid genomes." []	194129	\N	\N	cell	0	EFO	cell type	diploid cell
CL:0000003	\N	\N	"A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment)." [CARO:mah]	CL:0000415	"A cell whose nucleus has two haploid genomes." []	194130	\N	ubprop_upper_level	cell	0	EFO	native cell	diploid cell
CL:0000421	\N	\N	"\\nA free floating cell, including amebocytes and eleocytes, in the coelom of certain animals, especially annelids.\\n" []	CL:0000421	"\\nA free floating cell, including amebocytes and eleocytes, in the coelom of certain animals, especially annelids.\\n" []	62955	\N	\N	cell	0	EFO	coelomocyte	coelomocyte
CL:0000080	\N	\N	"A cell which moves among different tissues of the body, via blood, lymph, or other medium." []	CL:0000421	"\\nA free floating cell, including amebocytes and eleocytes, in the coelom of certain animals, especially annelids.\\n" []	194131	\N	\N	cell	0	EFO	circulating cell	coelomocyte
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000421	"\\nA free floating cell, including amebocytes and eleocytes, in the coelom of certain animals, especially annelids.\\n" []	194132	\N	\N	cell	0	EFO	cell type	coelomocyte
CL:0000519	\N	\N	"A phagocyte from organisms in the Nematoda or Protostomia clades." [GOC:tfm]	CL:0000421	"\\nA free floating cell, including amebocytes and eleocytes, in the coelom of certain animals, especially annelids.\\n" []	194133	\N	\N	cell	0	EFO	phagocyte (sensu Nematoda and Protostomia)	coelomocyte
CL:0000442	\N	\N	"A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response." []	CL:0000442	"A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response." []	62956	\N	\N	cell	0	EFO	follicular dendritic cell	follicular dendritic cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000442	"A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response." []	194134	\N	\N	cell	0	EFO	cell type	follicular dendritic cell
CL:0000473	\N	\N	"A cell whose primary function is to protect the organism." [JB:jb]	CL:0000442	"A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response." []	194135	\N	\N	cell	0	EFO	defensive cell	follicular dendritic cell
CL:0000520	\N	\N	"" []	CL:0000520	"" []	62969	\N	\N	cell	0	EFO	prokaryotic cell	prokaryotic cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000520	"" []	194147	\N	\N	cell	0	EFO	cell type	prokaryotic cell
CL:0000003	\N	\N	"A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment)." [CARO:mah]	CL:0000520	"" []	194148	\N	ubprop_upper_level	cell	0	EFO	native cell	prokaryotic cell
CL:0000521	\N	\N	"" []	CL:0000521	"" []	62970	\N	\N	cell	0	EFO	fungal cell	fungal cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000521	"" []	194149	\N	\N	cell	0	EFO	cell type	fungal cell
CL:0000255	\N	\N	"" []	CL:0000521	"" []	194150	\N	\N	cell	0	EFO	eukaryotic cell	fungal cell
CL:0000598	\N	\N	"A projection neuron in the cerebral cortex and the hippocampus. Pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base. The axons may have local collaterals but also project outside their cortical region." []	CL:0000598	"A projection neuron in the cerebral cortex and the hippocampus. Pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base. The axons may have local collaterals but also project outside their cortical region." []	62997	\N	\N	cell	0	EFO	pyramidal cell	pyramidal cell
CL:0000540	\N	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000598	"A projection neuron in the cerebral cortex and the hippocampus. Pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base. The axons may have local collaterals but also project outside their cortical region." []	194164	\N	\N	cell	0	EFO	neuron	pyramidal cell
CL:0000117	\N	\N	"" []	CL:0000598	"A projection neuron in the cerebral cortex and the hippocampus. Pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base. The axons may have local collaterals but also project outside their cortical region." []	194165	\N	\N	cell	0	EFO	CNS neuron (sensu Vertebrata)	pyramidal cell
CL:0000599	\N	\N	"\\nAn asexual, nonmotile spore formed by higher fungi; conidia are usually made from the side or tip of specialized sporogenous cells and do not form by progressive cleavage of the cytoplasm.\\n" []	CL:0000599	"\\nAn asexual, nonmotile spore formed by higher fungi; conidia are usually made from the side or tip of specialized sporogenous cells and do not form by progressive cleavage of the cytoplasm.\\n" []	62998	\N	\N	cell	0	EFO	conidium	conidium
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000599	"\\nAn asexual, nonmotile spore formed by higher fungi; conidia are usually made from the side or tip of specialized sporogenous cells and do not form by progressive cleavage of the cytoplasm.\\n" []	194166	\N	\N	cell	0	EFO	cell type	conidium
CL:0000605	\N	\N	"A spore formed following mitosis or mitoses." [GOC:tfm, PMID:2524423, PMID:9529886, SGD:clt]	CL:0000599	"\\nAn asexual, nonmotile spore formed by higher fungi; conidia are usually made from the side or tip of specialized sporogenous cells and do not form by progressive cleavage of the cytoplasm.\\n" []	194167	\N	\N	cell	0	EFO	fungal asexual spore	conidium
CL:0000628	\N	\N	"\\nA cell that can perform photosynthesis, in which carbohydrates are synthesized from carbon dioxide and water, using light as the energy source.\\n" []	CL:0000628	"\\nA cell that can perform photosynthesis, in which carbohydrates are synthesized from carbon dioxide and water, using light as the energy source.\\n" []	63008	\N	\N	cell	0	EFO	photosynthetic cell	photosynthetic cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000628	"\\nA cell that can perform photosynthesis, in which carbohydrates are synthesized from carbon dioxide and water, using light as the energy source.\\n" []	194172	\N	\N	cell	0	EFO	cell type	photosynthetic cell
CL:0000003	\N	\N	"A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment)." [CARO:mah]	CL:0000628	"\\nA cell that can perform photosynthesis, in which carbohydrates are synthesized from carbon dioxide and water, using light as the energy source.\\n" []	194173	\N	ubprop_upper_level	cell	0	EFO	native cell	photosynthetic cell
CL:0000632	\N	\N	"\\nA cell that is found in the perisinusoidal space of the liver that is capable of multiple roles including storage of retinol, presentation of antigen to T cells (including CD1d-restricted NKT cells), and upon activation, production of extracellular matrix components that can contribute to liver fibrosis. This activated state has a myofibroblast-like phenotype, though it's not clear in the literature if this is terminally differentiated. This cell type comprises approximately 8-15% of total cells in the liver.\\n" []	CL:0000632	"\\nA cell that is found in the perisinusoidal space of the liver that is capable of multiple roles including storage of retinol, presentation of antigen to T cells (including CD1d-restricted NKT cells), and upon activation, production of extracellular matrix components that can contribute to liver fibrosis. This activated state has a myofibroblast-like phenotype, though it's not clear in the literature if this is terminally differentiated. This cell type comprises approximately 8-15% of total cells in the liver.\\n" []	63009	\N	\N	cell	0	EFO	hepatic stellate cell	hepatic stellate cell
CL:0000057	\N	\N	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	CL:0000632	"\\nA cell that is found in the perisinusoidal space of the liver that is capable of multiple roles including storage of retinol, presentation of antigen to T cells (including CD1d-restricted NKT cells), and upon activation, production of extracellular matrix components that can contribute to liver fibrosis. This activated state has a myofibroblast-like phenotype, though it's not clear in the literature if this is terminally differentiated. This cell type comprises approximately 8-15% of total cells in the liver.\\n" []	194174	\N	\N	cell	0	EFO	fibroblast	hepatic stellate cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000632	"\\nA cell that is found in the perisinusoidal space of the liver that is capable of multiple roles including storage of retinol, presentation of antigen to T cells (including CD1d-restricted NKT cells), and upon activation, production of extracellular matrix components that can contribute to liver fibrosis. This activated state has a myofibroblast-like phenotype, though it's not clear in the literature if this is terminally differentiated. This cell type comprises approximately 8-15% of total cells in the liver.\\n" []	194175	\N	\N	cell	0	EFO	cell type	hepatic stellate cell
CL:0000152	\N	\N	"A cell of an exocrine gland; i.e. a gland that discharges its secretion via a duct." [ISBN:0198547684]	CL:0000632	"\\nA cell that is found in the perisinusoidal space of the liver that is capable of multiple roles including storage of retinol, presentation of antigen to T cells (including CD1d-restricted NKT cells), and upon activation, production of extracellular matrix components that can contribute to liver fibrosis. This activated state has a myofibroblast-like phenotype, though it's not clear in the literature if this is terminally differentiated. This cell type comprises approximately 8-15% of total cells in the liver.\\n" []	194176	\N	\N	cell	0	EFO	exocrine cell	hepatic stellate cell
CL:0000327	\N	\N	"" []	CL:0000632	"\\nA cell that is found in the perisinusoidal space of the liver that is capable of multiple roles including storage of retinol, presentation of antigen to T cells (including CD1d-restricted NKT cells), and upon activation, production of extracellular matrix components that can contribute to liver fibrosis. This activated state has a myofibroblast-like phenotype, though it's not clear in the literature if this is terminally differentiated. This cell type comprises approximately 8-15% of total cells in the liver.\\n" []	194177	\N	\N	cell	0	EFO	extracellular matrix secreting cell	hepatic stellate cell
CL:0000711	\N	\N	"\\nCumulus cell is a specialized granulosa cell that surrounds and nourishes the oocyte. This cell-type surrounds the fully-grown oocyte to form a cumulus-oocyte complex (abbr. COC). The terms cumulus oophorus cells, cumulus granulosa cells, cumulus oophorous granulosa cells, granulosa-cumulus cells are used to make a distinction between this cell and the other functionally different subpopulation of granulosa cells at the wall of the Graafian follicle.\\n" []	CL:0000711	"\\nCumulus cell is a specialized granulosa cell that surrounds and nourishes the oocyte. This cell-type surrounds the fully-grown oocyte to form a cumulus-oocyte complex (abbr. COC). The terms cumulus oophorus cells, cumulus granulosa cells, cumulus oophorous granulosa cells, granulosa-cumulus cells are used to make a distinction between this cell and the other functionally different subpopulation of granulosa cells at the wall of the Graafian follicle.\\n" []	63017	\N	\N	cell	0	EFO	cumulus cell	cumulus cell
CL:0000501	\N	\N	"A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." []	CL:0000711	"\\nCumulus cell is a specialized granulosa cell that surrounds and nourishes the oocyte. This cell-type surrounds the fully-grown oocyte to form a cumulus-oocyte complex (abbr. COC). The terms cumulus oophorus cells, cumulus granulosa cells, cumulus oophorous granulosa cells, granulosa-cumulus cells are used to make a distinction between this cell and the other functionally different subpopulation of granulosa cells at the wall of the Graafian follicle.\\n" []	194186	\N	\N	cell	0	EFO	granulosa cell	cumulus cell
CL:0000154	\N	\N	"" []	CL:0000711	"\\nCumulus cell is a specialized granulosa cell that surrounds and nourishes the oocyte. This cell-type surrounds the fully-grown oocyte to form a cumulus-oocyte complex (abbr. COC). The terms cumulus oophorus cells, cumulus granulosa cells, cumulus oophorous granulosa cells, granulosa-cumulus cells are used to make a distinction between this cell and the other functionally different subpopulation of granulosa cells at the wall of the Graafian follicle.\\n" []	194187	\N	\N	cell	0	EFO	protein secreting cell	cumulus cell
CL:0002174	\N	\N	"A cell within the follicle of an ovary." [GOC:tfm]	CL:0000711	"\\nCumulus cell is a specialized granulosa cell that surrounds and nourishes the oocyte. This cell-type surrounds the fully-grown oocyte to form a cumulus-oocyte complex (abbr. COC). The terms cumulus oophorus cells, cumulus granulosa cells, cumulus oophorous granulosa cells, granulosa-cumulus cells are used to make a distinction between this cell and the other functionally different subpopulation of granulosa cells at the wall of the Graafian follicle.\\n" []	194188	\N	\N	cell	0	EFO	follicular cell of ovary	cumulus cell
CL:0000723	\N	\N	"A stem cell that can give rise to cell types of the body other than those of the germ-line." []	CL:0000723	"A stem cell that can give rise to cell types of the body other than those of the germ-line." []	63018	\N	\N	cell	0	EFO	somatic stem cell	somatic stem cell
CL:0000034	\N	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0000723	"A stem cell that can give rise to cell types of the body other than those of the germ-line." []	194189	\N	\N	cell	0	EFO	stem cell	somatic stem cell
CL:0000034	\N	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0000723	"A stem cell that can give rise to cell types of the body other than those of the germ-line." []	194190	\N	\N	cell	0	EFO	stem cell	somatic stem cell
CL:0002371	\N	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000723	"A stem cell that can give rise to cell types of the body other than those of the germ-line." []	194191	\N	\N	cell	0	EFO	somatic cell	somatic stem cell
CL:0002371	\N	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000723	"A stem cell that can give rise to cell types of the body other than those of the germ-line." []	194192	\N	\N	cell	0	EFO	somatic cell	somatic stem cell
CL:0002144	\N	\N	"An endothelial cell found in capillaries." []	CL:0002144	"An endothelial cell found in capillaries." []	63364	\N	\N	cell	0	EFO	capillary endothelial cell	capillary endothelial cell
CL:0000071	\N	\N	"The endothelial cells that line the vasculature." []	CL:0002144	"An endothelial cell found in capillaries." []	194233	\N	\N	cell	0	EFO	blood vessel endothelial cell	capillary endothelial cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002144	"An endothelial cell found in capillaries." []	194234	\N	\N	cell	0	EFO	cell type	capillary endothelial cell
CL:0002231	\N	\N	"An epithelial cell of the prostate." []	CL:0002231	"An epithelial cell of the prostate." []	63375	\N	\N	cell	0	EFO	epithelial cell of prostate	epithelial cell of prostate
CL:0000066	\N	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0002231	"An epithelial cell of the prostate." []	194235	\N	\N	cell	0	EFO	epithelial cell	epithelial cell of prostate
CL:0002076	\N	\N	"An epithelial cell derived from endoderm." [FMA:69075, GOC:tfm]	CL:0002231	"An epithelial cell of the prostate." []	194236	\N	\N	cell	0	EFO	endo-epithelial cell	epithelial cell of prostate
CL:0002248	\N	\N	"A pluripotent stem cell has the ability to form cells from all three germ layers (ectoderm, mesoderm, and endoderm). However, unlike totipotent stem cells, they cell can not generate all the cells of the whole organism such as placenta." []	CL:0002248	"A pluripotent stem cell has the ability to form cells from all three germ layers (ectoderm, mesoderm, and endoderm). However, unlike totipotent stem cells, they cell can not generate all the cells of the whole organism such as placenta." []	63378	\N	\N	cell	0	EFO	pluripotent stem cell	pluripotent stem cell
CL:0000723	CL:0002248	\N	"A stem cell that can give rise to cell types of the body other than those of the germ-line." []	CL:0002248	"A pluripotent stem cell has the ability to form cells from all three germ layers (ectoderm, mesoderm, and endoderm). However, unlike totipotent stem cells, they cell can not generate all the cells of the whole organism such as placenta." []	226131	\N	\N	cell	1	EFO	somatic stem cell	pluripotent stem cell
CL:0000723	CL:0002248	\N	"A stem cell that can give rise to cell types of the body other than those of the germ-line." []	CL:0002248	"A pluripotent stem cell has the ability to form cells from all three germ layers (ectoderm, mesoderm, and endoderm). However, unlike totipotent stem cells, they cell can not generate all the cells of the whole organism such as placenta." []	226132	\N	\N	cell	1	EFO	somatic stem cell	pluripotent stem cell
CL:0002253	\N	\N	"An epithelial cell of the large intestine." []	CL:0002253	"An epithelial cell of the large intestine." []	63379	\N	\N	cell	0	EFO	epithelial cell of large intestine	epithelial cell of large intestine
CL:0002563	CL:0002253	\N	"An epithelial cell of the intestine. [ GOC:tfm ] " []	CL:0002253	"An epithelial cell of the large intestine." []	226133	\N	\N	cell	1	EFO	intestinal epithelial cell	epithelial cell of large intestine
CL:0002563	CL:0002253	\N	"An epithelial cell of the intestine. [ GOC:tfm ] " []	CL:0002253	"An epithelial cell of the large intestine." []	226134	\N	\N	cell	1	EFO	intestinal epithelial cell	epithelial cell of large intestine
CL:0002327	\N	\N	"An epithelial cell of the mammary gland." []	CL:0002327	"An epithelial cell of the mammary gland." []	63384	\N	\N	cell	0	EFO	mammary epithelial cell	mammary epithelial cell
CL:0000066	\N	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0002327	"An epithelial cell of the mammary gland." []	194239	\N	\N	cell	0	EFO	epithelial cell	mammary epithelial cell
CL:0000066	\N	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0002327	"An epithelial cell of the mammary gland." []	194240	\N	\N	cell	0	EFO	epithelial cell	mammary epithelial cell
CL:0002371	\N	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002327	"An epithelial cell of the mammary gland." []	194241	\N	\N	cell	0	EFO	somatic cell	mammary epithelial cell
CL:0002342	\N	\N	"A circulating endothelial cell of the phenotype CD146-positive, CD105-positive, CD45-negative. This cell type is indicative of recent vascular damage." []	CL:0002342	"A circulating endothelial cell of the phenotype CD146-positive, CD105-positive, CD45-negative. This cell type is indicative of recent vascular damage." []	63387	\N	\N	cell	0	EFO	circulating endothelial cell	circulating endothelial cell
CL:0000115	\N	\N	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	CL:0002342	"A circulating endothelial cell of the phenotype CD146-positive, CD105-positive, CD45-negative. This cell type is indicative of recent vascular damage." []	194242	\N	\N	cell	0	EFO	endothelial cell	circulating endothelial cell
CL:0000115	\N	\N	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	CL:0002342	"A circulating endothelial cell of the phenotype CD146-positive, CD105-positive, CD45-negative. This cell type is indicative of recent vascular damage." []	194243	\N	\N	cell	0	EFO	endothelial cell	circulating endothelial cell
CL:0002551	\N	\N	"fibroblast that is part of dermis" []	CL:0002551	"fibroblast that is part of dermis" []	63516	\N	\N	cell	0	EFO	fibroblast of dermis	fibroblast of dermis
CL:0000057	\N	\N	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	CL:0002551	"fibroblast that is part of dermis" []	194255	\N	\N	cell	0	EFO	fibroblast	fibroblast of dermis
CL:0002620	\N	\N	"A fibroblast of skin." [GOC:tfm]	CL:0002551	"fibroblast that is part of dermis" []	194256	\N	\N	cell	0	EFO	skin fibroblast	fibroblast of dermis
CL:0002563	\N	\N	"An epithelial cell of the intestine. [ GOC:tfm ] " []	CL:0002563	"An epithelial cell of the intestine. [ GOC:tfm ] " []	63518	\N	\N	cell	0	EFO	intestinal epithelial cell	intestinal epithelial cell
CL:0000066	\N	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0002563	"An epithelial cell of the intestine. [ GOC:tfm ] " []	194257	\N	\N	cell	0	EFO	epithelial cell	intestinal epithelial cell
CL:0002251	\N	\N	"An epithelial cell of the musculomembranous digestive tube extending from the mouth to the anus." [GOC:tfm, ISBN:0721662544]	CL:0002563	"An epithelial cell of the intestine. [ GOC:tfm ] " []	194258	\N	\N	cell	0	EFO	epithelial cell of alimentary canal	intestinal epithelial cell
CL:0002598	\N	\N	"" []	CL:0002598	"" []	63519	\N	\N	cell	0	EFO	bronchial smooth muscle cell	bronchial smooth muscle cell
CL:0000192	\N	\N	"Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH)." []	CL:0002598	"" []	194259	\N	\N	cell	0	EFO	smooth muscle cell	bronchial smooth muscle cell
CL:0000192	\N	\N	"Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH)." []	CL:0002598	"" []	194260	\N	\N	cell	0	EFO	smooth muscle cell	bronchial smooth muscle cell
CL:0002601	\N	\N	"A smooth muscle cell of the uterus." []	CL:0002601	"A smooth muscle cell of the uterus." []	63520	\N	\N	cell	0	EFO	uterine smooth muscle cell	uterine smooth muscle cell
CL:0000192	\N	\N	"Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH)." []	CL:0002601	"A smooth muscle cell of the uterus." []	194261	\N	\N	cell	0	EFO	smooth muscle cell	uterine smooth muscle cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002601	"A smooth muscle cell of the uterus." []	194262	\N	\N	cell	0	EFO	cell type	uterine smooth muscle cell
CL:1000497	\N	\N	"" []	CL:1000497	"" []	63528	\N	\N	cell	0	EFO	kidney cell	kidney cell
CL:0002371	\N	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:1000497	"" []	194267	\N	\N	cell	0	EFO	somatic cell	kidney cell
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:1000497	"" []	194268	\N	\N	cell	0	EFO	cell type	kidney cell
CL:0000548	\N	\N	"" []	CL:1000497	"" []	194269	\N	ubprop_upper_level	cell	0	EFO	animal cell	kidney cell
CHEBI:33281	\N	\N	"A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans." []	CHEBI:33281	"A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans." []	62331	\N	\N	chebi_ontology	0	EFO	antimicrobial agent	antimicrobial agent
CHEBI:27026	\N	\N	"Poisonous substance produced by a biological organism such as a microbe, animal or plant." []	CHEBI:33281	"A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans." []	194025	\N	\N	chebi_ontology	0	EFO	toxin	antimicrobial agent
BFO:0000007	\N	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	BFO:0000007	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	61872	\N	\N	EFO	0	EFO	process	process
BFO:0000006	\N	\N	"" []	BFO:0000007	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	193919	\N	\N	EFO	0	EFO	spatial region	process
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BFO:0000007	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	201272	\N	\N	EFO	1	EFO	experimental factor	process
BFO:0000016	\N	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	BFO:0000016	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	61873	\N	\N	EFO	0	EFO	disposition	disposition
BFO:0000017	\N	\N	"" []	BFO:0000016	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	193920	\N	\N	EFO	0	EFO	realizable entity	disposition
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	BFO:0000016	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	201273	\N	\N	EFO	1	EFO	material property	disposition
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BFO:0000016	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	554199	\N	\N	EFO	2	EFO	experimental factor	disposition
BFO:0000019	\N	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	BFO:0000019	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	61874	\N	\N	EFO	0	EFO	quality	quality
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	BFO:0000019	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	201274	\N	\N	EFO	1	EFO	material property	quality
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	BFO:0000019	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	201275	\N	\N	EFO	1	EFO	material property	quality
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BFO:0000019	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	554200	\N	\N	EFO	2	EFO	experimental factor	quality
BFO:0000020	\N	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	BFO:0000020	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	61875	\N	\N	EFO	0	EFO	material property	material property
BFO:0000002	\N	\N	"" []	BFO:0000020	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	193921	\N	\N	EFO	0	EFO	continuant	material property
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BFO:0000020	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	201276	\N	\N	EFO	1	EFO	experimental factor	material property
BFO:0000023	\N	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	BFO:0000023	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	61876	\N	\N	EFO	0	EFO	role	role
BFO:0000017	\N	\N	"" []	BFO:0000023	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	193922	\N	\N	EFO	0	EFO	realizable entity	role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	BFO:0000023	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	201277	\N	\N	EFO	1	EFO	material property	role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BFO:0000023	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	554201	\N	\N	EFO	2	EFO	experimental factor	role
BFO:0000029	\N	\N	"A site is an entity which consists of a characteristic spatial shape in relation to some arrangement of other material entities." []	BFO:0000029	"A site is an entity which consists of a characteristic spatial shape in relation to some arrangement of other material entities." []	61877	\N	\N	EFO	0	EFO	site	site
BFO:0000141	\N	\N	"" []	BFO:0000029	"A site is an entity which consists of a characteristic spatial shape in relation to some arrangement of other material entities." []	193923	\N	\N	EFO	0	EFO	immaterial entity	site
EFO:0000001	BFO:0000029	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BFO:0000029	"A site is an entity which consists of a characteristic spatial shape in relation to some arrangement of other material entities." []	201278	\N	\N	EFO	1	EFO	experimental factor	site
BFO:0000034	\N	\N	"A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for.  For example," []	BFO:0000034	"A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for.  For example," []	61878	\N	\N	EFO	0	EFO	function	function
BFO:0000016	BFO:0000034	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	BFO:0000034	"A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for.  For example," []	201279	\N	\N	EFO	1	EFO	disposition	function
BFO:0000020	BFO:0000034	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	BFO:0000034	"A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for.  For example," []	201280	\N	\N	EFO	1	EFO	material property	function
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BFO:0000034	"A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for.  For example," []	554202	\N	\N	EFO	2	EFO	experimental factor	function
BFO:0000040	\N	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BFO:0000040	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	61879	\N	\N	EFO	0	EFO	material entity	material entity
BFO:0000004	\N	\N	"b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])" []	BFO:0000040	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	193924	\N	\N	EFO	0	EFO	independent continuant	material entity
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BFO:0000040	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	201281	\N	\N	EFO	1	EFO	experimental factor	material entity
BTO:0000133	\N	\N	"The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." []	BTO:0000133	"The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." []	61882	\N	\N	EFO	0	EFO	blood serum	blood serum
BTO:0000131	\N	\N	"The fluid portion of the blood in which the particulate components are suspended." [Dorlands_Medical_Dictionary:MerckSource]	BTO:0000133	"The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." []	193932	\N	\N	EFO	0	EFO	blood plasma	blood serum
BTO:0001239	\N	\N	"1: The watery portion of an animal fluid remaining after coagulation: a (1): blood serum (2): antiserum b: whey c: a normal or pathological serous fluid (as in a blister). 2: The watery part of a plant fluid." [s_Online_Dictionary_at_www.Merriam-Webster.com:http\\://www.m-w.com/cgi-bin/dictionary?book=Dictionary&va=serum]	BTO:0000133	"The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." []	193933	\N	\N	EFO	0	EFO	serum	blood serum
EFO:0001941	BTO:0000133	\N	"" []	BTO:0000133	"The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." []	201282	\N	\N	EFO	1	EFO	blood component	blood serum
UBERON:0002390	EFO:0001941	\N	"Anatomical system that is involved in the production of hematopoietic cells. [ Haematopoiesis ] " []	BTO:0000133	"The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." []	554203	\N	\N	EFO	2	EFO	hematopoietic system	blood serum
UBERON:0000467	UBERON:0002390	\N	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	BTO:0000133	"The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." []	1136921	\N	\N	EFO	3	EFO	anatomical system	blood serum
EFO:0000787	UBERON:0000467	\N	"" []	BTO:0000133	"The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." []	2020084	\N	\N	EFO	4	EFO	animal component	blood serum
EFO:0000786	EFO:0000787	\N	"" []	BTO:0000133	"The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." []	3175310	\N	\N	EFO	5	EFO	anatomy basic component	blood serum
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	BTO:0000133	"The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." []	4386504	\N	\N	EFO	6	EFO	organism part	blood serum
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0000133	"The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." []	5407755	\N	\N	EFO	7	EFO	material entity	blood serum
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0000133	"The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting." []	6146817	\N	\N	EFO	8	EFO	experimental factor	blood serum
BTO:0000155	\N	\N	"" []	BTO:0000155	"" []	61884	\N	\N	EFO	0	EFO	bronchoalveolar lavage	bronchoalveolar lavage
EFO:0004542	BTO:0000155	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	BTO:0000155	"" []	201283	\N	\N	EFO	1	EFO	planned process	bronchoalveolar lavage
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	BTO:0000155	"" []	554204	\N	\N	EFO	2	EFO	process	bronchoalveolar lavage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0000155	"" []	1136922	\N	\N	EFO	3	EFO	experimental factor	bronchoalveolar lavage
BTO:0000214	\N	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	BTO:0000214	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	61886	\N	\N	EFO	0	EFO	cell culture	cell culture
BTO:0001490	\N	\N	"Other sources of an enzyme as cell culture or commercial preparation, not related to a specific tissue." [curators:mgr]	BTO:0000214	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	193938	\N	\N	EFO	0	EFO	other source	cell culture
BFO:0000040	BTO:0000214	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0000214	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	201284	\N	\N	EFO	1	EFO	material entity	cell culture
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0000214	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	554205	\N	\N	EFO	2	EFO	experimental factor	cell culture
BTO:0000221	\N	\N	"Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself." []	BTO:0000221	"Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself." []	61887	\N	\N	EFO	0	EFO	cell suspension culture	cell suspension culture
BTO:0000214	BTO:0000221	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	BTO:0000221	"Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself." []	201285	\N	\N	EFO	1	EFO	cell culture	cell suspension culture
BTO:0000214	BTO:0000221	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	BTO:0000221	"Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself." []	201286	\N	\N	EFO	1	EFO	cell culture	cell suspension culture
EFO:0000523	BTO:0000221	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	BTO:0000221	"Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself." []	201287	\N	\N	EFO	1	EFO	growth condition	cell suspension culture
BFO:0000040	BTO:0000214	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0000221	"Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself." []	554206	\N	\N	EFO	2	EFO	material entity	cell suspension culture
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	BTO:0000221	"Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself." []	554207	\N	\N	EFO	2	EFO	biological role	cell suspension culture
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0000221	"Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself." []	1136923	\N	\N	EFO	3	EFO	experimental factor	cell suspension culture
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	BTO:0000221	"Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself." []	1136924	\N	\N	EFO	3	EFO	role	cell suspension culture
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	BTO:0000221	"Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself." []	2020085	\N	\N	EFO	4	EFO	material property	cell suspension culture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0000221	"Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself." []	3175311	\N	\N	EFO	5	EFO	experimental factor	cell suspension culture
BTO:0000332	\N	\N	"" []	BTO:0000332	"" []	61892	\N	\N	EFO	0	EFO	culture condition:dark-grown cell	culture condition:dark-grown cell
BTO:0001479	\N	\N	"" []	BTO:0000332	"" []	193948	\N	\N	EFO	0	EFO	culture condition:-grown cell	culture condition:dark-grown cell
EFO:0000523	BTO:0000332	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	BTO:0000332	"" []	201288	\N	\N	EFO	1	EFO	growth condition	culture condition:dark-grown cell
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	BTO:0000332	"" []	554208	\N	\N	EFO	2	EFO	biological role	culture condition:dark-grown cell
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	BTO:0000332	"" []	1136925	\N	\N	EFO	3	EFO	role	culture condition:dark-grown cell
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	BTO:0000332	"" []	2020086	\N	\N	EFO	4	EFO	material property	culture condition:dark-grown cell
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0000332	"" []	3175312	\N	\N	EFO	5	EFO	experimental factor	culture condition:dark-grown cell
BTO:0000383	\N	\N	"" []	BTO:0000383	"" []	61895	\N	\N	EFO	0	EFO	renal cell carcinoma cell line	renal cell carcinoma cell line
BTO:0003192	\N	\N	"" []	BTO:0000383	"" []	193954	\N	\N	EFO	0	EFO	renal cancer cell line	renal cell carcinoma cell line
EFO:0001639	BTO:0000383	\N	"" []	BTO:0000383	"" []	201289	\N	\N	EFO	1	EFO	cancer cell line	renal cell carcinoma cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	BTO:0000383	"" []	554209	\N	\N	EFO	2	EFO	cell line	renal cell carcinoma cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0000383	"" []	1136926	\N	\N	EFO	3	EFO	material entity	renal cell carcinoma cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0000383	"" []	2020087	\N	\N	EFO	4	EFO	experimental factor	renal cell carcinoma cell line
BTO:0000551	\N	\N	"Cancer cell of the major organ of respiration the lung." []	BTO:0000551	"Cancer cell of the major organ of respiration the lung." []	61900	\N	\N	EFO	0	EFO	lung cancer cell	lung cancer cell
EFO:0000324	BTO:0000551	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	BTO:0000551	"Cancer cell of the major organ of respiration the lung." []	201290	\N	\N	EFO	1	EFO	cell type	lung cancer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0000551	"Cancer cell of the major organ of respiration the lung." []	554210	\N	\N	EFO	2	EFO	material entity	lung cancer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0000551	"Cancer cell of the major organ of respiration the lung." []	1136927	\N	\N	EFO	3	EFO	experimental factor	lung cancer cell
BTO:0000849	\N	\N	"" []	BTO:0000849	"" []	61905	\N	\N	EFO	0	EFO	melanoma cell line	melanoma cell line
EFO:0001639	BTO:0000849	\N	"" []	BTO:0000849	"" []	201291	\N	\N	EFO	1	EFO	cancer cell line	melanoma cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	BTO:0000849	"" []	554211	\N	\N	EFO	2	EFO	cell line	melanoma cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0000849	"" []	1136928	\N	\N	EFO	3	EFO	material entity	melanoma cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0000849	"" []	2020088	\N	\N	EFO	4	EFO	experimental factor	melanoma cell line
BTO:0001038	\N	\N	"A delicate, cylindrical sheath of chitin continuously secreted from the posterior edge of the foregut of insects and millipedes that ingest solid food, which surrounds the food as it passes through the midgut." []	BTO:0001038	"A delicate, cylindrical sheath of chitin continuously secreted from the posterior edge of the foregut of insects and millipedes that ingest solid food, which surrounds the food as it passes through the midgut." []	61908	\N	\N	EFO	0	EFO	peritrophic membrane	peritrophic membrane
EFO:0000787	BTO:0001038	\N	"" []	BTO:0001038	"A delicate, cylindrical sheath of chitin continuously secreted from the posterior edge of the foregut of insects and millipedes that ingest solid food, which surrounds the food as it passes through the midgut." []	201292	\N	\N	EFO	1	EFO	animal component	peritrophic membrane
EFO:0000786	EFO:0000787	\N	"" []	BTO:0001038	"A delicate, cylindrical sheath of chitin continuously secreted from the posterior edge of the foregut of insects and millipedes that ingest solid food, which surrounds the food as it passes through the midgut." []	554212	\N	\N	EFO	2	EFO	anatomy basic component	peritrophic membrane
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	BTO:0001038	"A delicate, cylindrical sheath of chitin continuously secreted from the posterior edge of the foregut of insects and millipedes that ingest solid food, which surrounds the food as it passes through the midgut." []	1136929	\N	\N	EFO	3	EFO	organism part	peritrophic membrane
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0001038	"A delicate, cylindrical sheath of chitin continuously secreted from the posterior edge of the foregut of insects and millipedes that ingest solid food, which surrounds the food as it passes through the midgut." []	2020089	\N	\N	EFO	4	EFO	material entity	peritrophic membrane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0001038	"A delicate, cylindrical sheath of chitin continuously secreted from the posterior edge of the foregut of insects and millipedes that ingest solid food, which surrounds the food as it passes through the midgut." []	3175313	\N	\N	EFO	5	EFO	experimental factor	peritrophic membrane
BTO:0001383	\N	\N	"The thin layer of bone making up the bony processes of the maxilla and mandible, and surrounding and containing the teeth; it is pierced by many small openings through which blood vessels, lymphatics, and nerve fibers pass." []	BTO:0001383	"The thin layer of bone making up the bony processes of the maxilla and mandible, and surrounding and containing the teeth; it is pierced by many small openings through which blood vessels, lymphatics, and nerve fibers pass." []	61912	\N	\N	EFO	0	EFO	alveolar bone	alveolar bone
BTO:0000379	\N	\N	"An animal in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems; especially: the developing human individual from the time of implantation to the end of the eighth week after conception." [s_Online_Dictionary_at_www.Merriam-Webster.com:http\\://www.m-w.com/cgi-bin/dictionary?book=Dictionary&va=embryo]	BTO:0001383	"The thin layer of bone making up the bony processes of the maxilla and mandible, and surrounding and containing the teeth; it is pierced by many small openings through which blood vessels, lymphatics, and nerve fibers pass." []	193979	\N	\N	EFO	0	EFO	embryo	alveolar bone
EFO:0000787	BTO:0001383	\N	"" []	BTO:0001383	"The thin layer of bone making up the bony processes of the maxilla and mandible, and surrounding and containing the teeth; it is pierced by many small openings through which blood vessels, lymphatics, and nerve fibers pass." []	201293	\N	\N	EFO	1	EFO	animal component	alveolar bone
EFO:0000786	EFO:0000787	\N	"" []	BTO:0001383	"The thin layer of bone making up the bony processes of the maxilla and mandible, and surrounding and containing the teeth; it is pierced by many small openings through which blood vessels, lymphatics, and nerve fibers pass." []	554213	\N	\N	EFO	2	EFO	anatomy basic component	alveolar bone
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	BTO:0001383	"The thin layer of bone making up the bony processes of the maxilla and mandible, and surrounding and containing the teeth; it is pierced by many small openings through which blood vessels, lymphatics, and nerve fibers pass." []	1136930	\N	\N	EFO	3	EFO	organism part	alveolar bone
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0001383	"The thin layer of bone making up the bony processes of the maxilla and mandible, and surrounding and containing the teeth; it is pierced by many small openings through which blood vessels, lymphatics, and nerve fibers pass." []	2020090	\N	\N	EFO	4	EFO	material entity	alveolar bone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0001383	"The thin layer of bone making up the bony processes of the maxilla and mandible, and surrounding and containing the teeth; it is pierced by many small openings through which blood vessels, lymphatics, and nerve fibers pass." []	3175314	\N	\N	EFO	5	EFO	experimental factor	alveolar bone
BTO:0001384	\N	\N	"" []	BTO:0001384	"" []	61913	\N	\N	EFO	0	EFO	tissue culture	tissue culture
BFO:0000040	BTO:0001384	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0001384	"" []	201294	\N	\N	EFO	1	EFO	material entity	tissue culture
BTO:0000214	BTO:0001384	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	BTO:0001384	"" []	201295	\N	\N	EFO	1	EFO	cell culture	tissue culture
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0001384	"" []	554214	\N	\N	EFO	2	EFO	experimental factor	tissue culture
BTO:0001436	\N	\N	"1: The vegetative part of a fungus, consisting of a mass of branching, threadlike hyphae.n2: A similar mass of fibers formed by certain bacteria." []	BTO:0001436	"1: The vegetative part of a fungus, consisting of a mass of branching, threadlike hyphae.n2: A similar mass of fibers formed by certain bacteria." []	61914	\N	\N	EFO	0	EFO	mycelium	mycelium
BTO:0001434	\N	\N	"1: Growing or having the power of growing. 2: Of, relating to, or engaged in nutritive and growth functions as contrasted with reproductive functions." [s_Online_Dictionary_at_www.Merriam-Webster.com:http\\://www.m-w.com/cgi-bin/dictionary?book=Dictionary&va=vegetative]	BTO:0001436	"1: The vegetative part of a fungus, consisting of a mass of branching, threadlike hyphae.n2: A similar mass of fibers formed by certain bacteria." []	193980	\N	\N	EFO	0	EFO	vegetative cell	mycelium
BTO:0001494	\N	\N	"Any of a major group (Fungi) of saprophytic and parasitic spore-producing organisms including molds, rusts, mildews, smuts, mushrooms, and yeasts." [s_Online_Dictionary_at_www.Merriam-Webster.com:http\\://www.m-w.com/cgi-bin/dictionary?book=Dictionary&va=fungus]	BTO:0001436	"1: The vegetative part of a fungus, consisting of a mass of branching, threadlike hyphae.n2: A similar mass of fibers formed by certain bacteria." []	193981	\N	\N	EFO	0	EFO	fungus	mycelium
EFO:0000788	BTO:0001436	\N	"" []	BTO:0001436	"1: The vegetative part of a fungus, consisting of a mass of branching, threadlike hyphae.n2: A similar mass of fibers formed by certain bacteria." []	201296	\N	\N	EFO	1	EFO	fungal component	mycelium
EFO:0000786	EFO:0000788	\N	"" []	BTO:0001436	"1: The vegetative part of a fungus, consisting of a mass of branching, threadlike hyphae.n2: A similar mass of fibers formed by certain bacteria." []	554215	\N	\N	EFO	2	EFO	anatomy basic component	mycelium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	BTO:0001436	"1: The vegetative part of a fungus, consisting of a mass of branching, threadlike hyphae.n2: A similar mass of fibers formed by certain bacteria." []	1136931	\N	\N	EFO	3	EFO	organism part	mycelium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0001436	"1: The vegetative part of a fungus, consisting of a mass of branching, threadlike hyphae.n2: A similar mass of fibers formed by certain bacteria." []	2020091	\N	\N	EFO	4	EFO	material entity	mycelium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0001436	"1: The vegetative part of a fungus, consisting of a mass of branching, threadlike hyphae.n2: A similar mass of fibers formed by certain bacteria." []	3175315	\N	\N	EFO	5	EFO	experimental factor	mycelium
BTO:0001516	\N	\N	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	61915	\N	\N	EFO	0	EFO	BA/F3 cell	BA/F3 cell
BTO:0000743	\N	\N	"" []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	193982	\N	\N	EFO	0	EFO	pre-B-lymphocyte cell line	BA/F3 cell
EFO:0002887	BTO:0001516	\N	"Cell lines derived from mice." []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	201297	\N	\N	EFO	1	EFO	mouse cell line	BA/F3 cell
EFO:0003792	BTO:0001516	\N	"" []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	201298	\N	\N	EFO	1	EFO	interleukin (Mus musculus)	BA/F3 cell
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	554216	\N	\N	EFO	2	EFO	cell line	BA/F3 cell
EFO:0004100	EFO:0003792	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	554217	\N	\N	EFO	2	EFO	interleukin	BA/F3 cell
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	1136932	\N	\N	EFO	3	EFO	material entity	BA/F3 cell
EFO:0003786	EFO:0004100	\N	"" []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	1136933	\N	\N	EFO	3	EFO	cytokine	BA/F3 cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	6146818	\N	\N	EFO	8	EFO	experimental factor	BA/F3 cell
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	2020093	\N	\N	EFO	4	EFO	protein	BA/F3 cell
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	3175316	\N	\N	EFO	5	EFO	chemical compound	BA/F3 cell
CHEBI:24431	CHEBI:37577	\N	"" []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	4386505	\N	\N	EFO	6	EFO	chemical entity	BA/F3 cell
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0001516	"Mouse pro B cell line. IL-3 dependent murine pro B cell line established from peripheral blood; apparently derived from BALB/c mouse." []	5407756	\N	\N	EFO	7	EFO	material entity	BA/F3 cell
BTO:0001899	\N	\N	"A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die." []	BTO:0001899	"A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die." []	61921	\N	\N	EFO	0	EFO	stationary phase culture	stationary phase culture
BTO:0000214	BTO:0001899	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	BTO:0001899	"A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die." []	201299	\N	\N	EFO	1	EFO	cell culture	stationary phase culture
BTO:0001900	BTO:0001899	\N	"The characteristic periods in the growth of a bacterial culture, as indicated by the shape of a graph of viable cell number versus time." []	BTO:0001899	"A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die." []	201300	\N	\N	EFO	1	EFO	growth phase culture	stationary phase culture
EFO:0002958	BTO:0001899	\N	"experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes." []	BTO:0001899	"A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die." []	201301	\N	\N	EFO	1	EFO	experimental cell	stationary phase culture
BFO:0000040	BTO:0000214	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0001899	"A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die." []	554218	\N	\N	EFO	2	EFO	material entity	stationary phase culture
BTO:0000214	BTO:0001900	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	BTO:0001899	"A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die." []	554219	\N	\N	EFO	2	EFO	cell culture	stationary phase culture
EFO:0000324	EFO:0002958	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	BTO:0001899	"A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die." []	554220	\N	\N	EFO	2	EFO	cell type	stationary phase culture
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0001899	"A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die." []	2020094	\N	\N	EFO	4	EFO	experimental factor	stationary phase culture
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0001899	"A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die." []	1136935	\N	\N	EFO	3	EFO	material entity	stationary phase culture
BTO:0001900	\N	\N	"The characteristic periods in the growth of a bacterial culture, as indicated by the shape of a graph of viable cell number versus time." []	BTO:0001900	"The characteristic periods in the growth of a bacterial culture, as indicated by the shape of a graph of viable cell number versus time." []	61922	\N	\N	EFO	0	EFO	growth phase culture	growth phase culture
BTO:0000214	BTO:0001900	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	BTO:0001900	"The characteristic periods in the growth of a bacterial culture, as indicated by the shape of a graph of viable cell number versus time." []	201302	\N	\N	EFO	1	EFO	cell culture	growth phase culture
BTO:0000214	BTO:0001900	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	BTO:0001900	"The characteristic periods in the growth of a bacterial culture, as indicated by the shape of a graph of viable cell number versus time." []	201303	\N	\N	EFO	1	EFO	cell culture	growth phase culture
BFO:0000040	BTO:0000214	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0001900	"The characteristic periods in the growth of a bacterial culture, as indicated by the shape of a graph of viable cell number versus time." []	554221	\N	\N	EFO	2	EFO	material entity	growth phase culture
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0001900	"The characteristic periods in the growth of a bacterial culture, as indicated by the shape of a graph of viable cell number versus time." []	1136936	\N	\N	EFO	3	EFO	experimental factor	growth phase culture
BTO:0001903	\N	\N	"A cell culture at the steepest slope of the growth curve of a culture-- at the phase of vigorous growth during which cell number doubles every 20-30 minutes." []	BTO:0001903	"A cell culture at the steepest slope of the growth curve of a culture-- at the phase of vigorous growth during which cell number doubles every 20-30 minutes." []	61923	\N	\N	EFO	0	EFO	logarithmic phase culture	logarithmic phase culture
BTO:0001900	BTO:0001903	\N	"The characteristic periods in the growth of a bacterial culture, as indicated by the shape of a graph of viable cell number versus time." []	BTO:0001903	"A cell culture at the steepest slope of the growth curve of a culture-- at the phase of vigorous growth during which cell number doubles every 20-30 minutes." []	201304	\N	\N	EFO	1	EFO	growth phase culture	logarithmic phase culture
EFO:0002958	BTO:0001903	\N	"experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes." []	BTO:0001903	"A cell culture at the steepest slope of the growth curve of a culture-- at the phase of vigorous growth during which cell number doubles every 20-30 minutes." []	201305	\N	\N	EFO	1	EFO	experimental cell	logarithmic phase culture
BTO:0000214	BTO:0001900	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	BTO:0001903	"A cell culture at the steepest slope of the growth curve of a culture-- at the phase of vigorous growth during which cell number doubles every 20-30 minutes." []	554222	\N	\N	EFO	2	EFO	cell culture	logarithmic phase culture
EFO:0000324	EFO:0002958	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	BTO:0001903	"A cell culture at the steepest slope of the growth curve of a culture-- at the phase of vigorous growth during which cell number doubles every 20-30 minutes." []	554223	\N	\N	EFO	2	EFO	cell type	logarithmic phase culture
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0001903	"A cell culture at the steepest slope of the growth curve of a culture-- at the phase of vigorous growth during which cell number doubles every 20-30 minutes." []	1136937	\N	\N	EFO	3	EFO	material entity	logarithmic phase culture
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0001903	"A cell culture at the steepest slope of the growth curve of a culture-- at the phase of vigorous growth during which cell number doubles every 20-30 minutes." []	2020095	\N	\N	EFO	4	EFO	experimental factor	logarithmic phase culture
BTO:0002217	\N	\N	"The clear fluid above a sediment or precipitate of a cell culture." []	BTO:0002217	"The clear fluid above a sediment or precipitate of a cell culture." []	61929	\N	\N	EFO	0	EFO	culture supernatant	culture supernatant
BTO:0000214	BTO:0002217	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	BTO:0002217	"The clear fluid above a sediment or precipitate of a cell culture." []	201306	\N	\N	EFO	1	EFO	cell culture	culture supernatant
BTO:0000214	BTO:0002217	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	BTO:0002217	"The clear fluid above a sediment or precipitate of a cell culture." []	201307	\N	\N	EFO	1	EFO	cell culture	culture supernatant
BFO:0000040	BTO:0000214	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0002217	"The clear fluid above a sediment or precipitate of a cell culture." []	554224	\N	\N	EFO	2	EFO	material entity	culture supernatant
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0002217	"The clear fluid above a sediment or precipitate of a cell culture." []	1136938	\N	\N	EFO	3	EFO	experimental factor	culture supernatant
BTO:0002690	\N	\N	"" []	BTO:0002690	"" []	61934	\N	\N	EFO	0	EFO	biofilm	biofilm
BTO:0000284	\N	\N	"" []	BTO:0002690	"" []	194006	\N	\N	EFO	0	EFO	organism form	biofilm
BFO:0000040	BTO:0002690	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0002690	"" []	201308	\N	\N	EFO	1	EFO	material entity	biofilm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0002690	"" []	554225	\N	\N	EFO	2	EFO	experimental factor	biofilm
BTO:0002842	\N	\N	"A rare type of hepatocellular carcinoma arising from the cholangioles, composed of tumor cells resembling the epithelial cells of the cholangioles arranged in cords consisting of two layers of cells surrounding a minute lumen." []	BTO:0002842	"A rare type of hepatocellular carcinoma arising from the cholangioles, composed of tumor cells resembling the epithelial cells of the cholangioles arranged in cords consisting of two layers of cells surrounding a minute lumen." []	61935	\N	\N	EFO	0	EFO	cholangioma cell	cholangioma cell
BTO:0000608	\N	\N	"Primary carcinoma of the liver cells. It ranges from a well-differentiated tumour difficult to distinguish from normal hepatocytes to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic or may form giant cells. Several classification schemes have been suggested. Hepatocellular carcinoma is very rare in the united states and western europe, but it is one of the most common cancers in eastern asia and sub-saharan africa. The cases are preponderantly male and, racially, whites have the lowest rates." [Online_Medical_Dictionary:http\\://cancerweb.ncl.ac.uk/]	BTO:0002842	"A rare type of hepatocellular carcinoma arising from the cholangioles, composed of tumor cells resembling the epithelial cells of the cholangioles arranged in cords consisting of two layers of cells surrounding a minute lumen." []	194007	\N	\N	EFO	0	EFO	hepatoma cell	cholangioma cell
EFO:0005934	BTO:0002842	\N	"" []	BTO:0002842	"A rare type of hepatocellular carcinoma arising from the cholangioles, composed of tumor cells resembling the epithelial cells of the cholangioles arranged in cords consisting of two layers of cells surrounding a minute lumen." []	201309	\N	\N	EFO	1	EFO	disease cell type	cholangioma cell
EFO:0000324	EFO:0005934	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	BTO:0002842	"A rare type of hepatocellular carcinoma arising from the cholangioles, composed of tumor cells resembling the epithelial cells of the cholangioles arranged in cords consisting of two layers of cells surrounding a minute lumen." []	554226	\N	\N	EFO	2	EFO	cell type	cholangioma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0002842	"A rare type of hepatocellular carcinoma arising from the cholangioles, composed of tumor cells resembling the epithelial cells of the cholangioles arranged in cords consisting of two layers of cells surrounding a minute lumen." []	1136939	\N	\N	EFO	3	EFO	material entity	cholangioma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0002842	"A rare type of hepatocellular carcinoma arising from the cholangioles, composed of tumor cells resembling the epithelial cells of the cholangioles arranged in cords consisting of two layers of cells surrounding a minute lumen." []	2020096	\N	\N	EFO	4	EFO	experimental factor	cholangioma cell
BTO:0002844	\N	\N	"Infiltrating ductal carcinoma is one of several recognized specific patterns of cancer of the breast. It is so named because it begins in the cells forming the ducts of the breast. It is the most common form of breast cancer, comprising 65-85% of all cases." []	BTO:0002844	"Infiltrating ductal carcinoma is one of several recognized specific patterns of cancer of the breast. It is so named because it begins in the cells forming the ducts of the breast. It is the most common form of breast cancer, comprising 65-85% of all cases." []	61936	\N	\N	EFO	0	EFO	breast invasive ductal carcinoma cell	breast invasive ductal carcinoma cell
BTO:0000150	\N	\N	"Breast cancer is an uncontrolled growth of malignant breast tissue. Most breast cancers begin in the milk ducts: these are called intraductal cancers. A few, like lobular cancer, start in the milk sacs or lobes." [Online_Medical_Dictionary:http\\://cancerweb.ncl.ac.uk/]	BTO:0002844	"Infiltrating ductal carcinoma is one of several recognized specific patterns of cancer of the breast. It is so named because it begins in the cells forming the ducts of the breast. It is the most common form of breast cancer, comprising 65-85% of all cases." []	194008	\N	\N	EFO	0	EFO	breast cancer cell	breast invasive ductal carcinoma cell
BTO:0004851	\N	\N	"The most common type of breast cancer in women. It comes in two forms: invasive ductal carcinoma (IDC), an infiltrating, malignant and abnormal proliferation of neoplastic cells in the breast tissue, or ductal carcinoma in situ (DCIS), a noninvasive, possibly malignant, neoplasm that is still confined to the milk ducts (lactiferous ducts), where breast cancer most often originates." [Wikipedia:The_Free_Encyclopedia]	BTO:0002844	"Infiltrating ductal carcinoma is one of several recognized specific patterns of cancer of the breast. It is so named because it begins in the cells forming the ducts of the breast. It is the most common form of breast cancer, comprising 65-85% of all cases." []	194009	\N	\N	EFO	0	EFO	mammary ductal carcinoma cell	breast invasive ductal carcinoma cell
EFO:0005934	BTO:0002844	\N	"" []	BTO:0002844	"Infiltrating ductal carcinoma is one of several recognized specific patterns of cancer of the breast. It is so named because it begins in the cells forming the ducts of the breast. It is the most common form of breast cancer, comprising 65-85% of all cases." []	201310	\N	\N	EFO	1	EFO	disease cell type	breast invasive ductal carcinoma cell
EFO:0000324	EFO:0005934	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	BTO:0002844	"Infiltrating ductal carcinoma is one of several recognized specific patterns of cancer of the breast. It is so named because it begins in the cells forming the ducts of the breast. It is the most common form of breast cancer, comprising 65-85% of all cases." []	554227	\N	\N	EFO	2	EFO	cell type	breast invasive ductal carcinoma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0002844	"Infiltrating ductal carcinoma is one of several recognized specific patterns of cancer of the breast. It is so named because it begins in the cells forming the ducts of the breast. It is the most common form of breast cancer, comprising 65-85% of all cases." []	1136940	\N	\N	EFO	3	EFO	material entity	breast invasive ductal carcinoma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0002844	"Infiltrating ductal carcinoma is one of several recognized specific patterns of cancer of the breast. It is so named because it begins in the cells forming the ducts of the breast. It is the most common form of breast cancer, comprising 65-85% of all cases." []	2020097	\N	\N	EFO	4	EFO	experimental factor	breast invasive ductal carcinoma cell
BTO:0003699	\N	\N	"The HLA-A,B negative mutant cell line C1R is widely used as a transfection recipient in functional studies of class I MHC genes. It was derived from a normal B cell line." []	BTO:0003699	"The HLA-A,B negative mutant cell line C1R is widely used as a transfection recipient in functional studies of class I MHC genes. It was derived from a normal B cell line." []	61939	\N	\N	EFO	0	EFO	C1R cell	C1R cell
BTO:0001522	\N	\N	"" []	BTO:0003699	"The HLA-A,B negative mutant cell line C1R is widely used as a transfection recipient in functional studies of class I MHC genes. It was derived from a normal B cell line." []	194013	\N	\N	EFO	0	EFO	B-lymphocyte cell line	C1R cell
EFO:0001640	BTO:0003699	\N	"" []	BTO:0003699	"The HLA-A,B negative mutant cell line C1R is widely used as a transfection recipient in functional studies of class I MHC genes. It was derived from a normal B cell line." []	201311	\N	\N	EFO	1	EFO	B cell derived cell line	C1R cell
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	BTO:0003699	"The HLA-A,B negative mutant cell line C1R is widely used as a transfection recipient in functional studies of class I MHC genes. It was derived from a normal B cell line." []	554228	\N	\N	EFO	2	EFO	cell line	C1R cell
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0003699	"The HLA-A,B negative mutant cell line C1R is widely used as a transfection recipient in functional studies of class I MHC genes. It was derived from a normal B cell line." []	1136941	\N	\N	EFO	3	EFO	material entity	C1R cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0003699	"The HLA-A,B negative mutant cell line C1R is widely used as a transfection recipient in functional studies of class I MHC genes. It was derived from a normal B cell line." []	2020098	\N	\N	EFO	4	EFO	experimental factor	C1R cell
BTO:0004059	\N	\N	"Human normal colon fibroblast cell line established from a black 2.5-months-old human female." []	BTO:0004059	"Human normal colon fibroblast cell line established from a black 2.5-months-old human female." []	61940	\N	\N	EFO	0	EFO	CCD-18Co cell	CCD-18Co cell
BTO:0000188	\N	\N	"" []	BTO:0004059	"Human normal colon fibroblast cell line established from a black 2.5-months-old human female." []	194014	\N	\N	EFO	0	EFO	colonic cell line	CCD-18Co cell
EFO:0002922	BTO:0004059	\N	"" []	BTO:0004059	"Human normal colon fibroblast cell line established from a black 2.5-months-old human female." []	201312	\N	\N	EFO	1	EFO	normal cell line	CCD-18Co cell
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	BTO:0004059	"Human normal colon fibroblast cell line established from a black 2.5-months-old human female." []	554229	\N	\N	EFO	2	EFO	cell line	CCD-18Co cell
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0004059	"Human normal colon fibroblast cell line established from a black 2.5-months-old human female." []	1136942	\N	\N	EFO	3	EFO	material entity	CCD-18Co cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0004059	"Human normal colon fibroblast cell line established from a black 2.5-months-old human female." []	2020099	\N	\N	EFO	4	EFO	experimental factor	CCD-18Co cell
BTO:0004298	\N	\N	"" []	BTO:0004298	"" []	61943	\N	\N	EFO	0	EFO	corneal epithelial cell	corneal epithelial cell
BTO:0000287	\N	\N	"Posterior epithelium of cornea: the mesothelial layer covering the posterior surface of the posterior limiting lamina of the cornea; it was once believed to extend to the anterior surface of the stroma of the iris." [Dorlands_Medical_Dictionary:MerckSource]	BTO:0004298	"" []	194016	\N	\N	EFO	0	EFO	corneal epithelium	corneal epithelial cell
EFO:0000324	BTO:0004298	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	BTO:0004298	"" []	201313	\N	\N	EFO	1	EFO	cell type	corneal epithelial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0004298	"" []	554230	\N	\N	EFO	2	EFO	material entity	corneal epithelial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0004298	"" []	1136943	\N	\N	EFO	3	EFO	experimental factor	corneal epithelial cell
BTO:0004687	\N	\N	"The bony socket of the eye." []	BTO:0004687	"The bony socket of the eye." []	61945	\N	\N	EFO	0	EFO	orbit	orbit
BTO:0000282	\N	\N	"The upper or anterior division of the animal body that contains the brain, the chief sense organs, and the mouth." [s_Online_Dictionary_at_www.Merriam-Webster.com:http\\://www.m-w.com/cgi-bin/dictionary?book=Dictionary&va=head]	BTO:0004687	"The bony socket of the eye." []	194019	\N	\N	EFO	0	EFO	head	orbit
EFO:0000787	BTO:0004687	\N	"" []	BTO:0004687	"The bony socket of the eye." []	201314	\N	\N	EFO	1	EFO	animal component	orbit
EFO:0000786	EFO:0000787	\N	"" []	BTO:0004687	"The bony socket of the eye." []	554231	\N	\N	EFO	2	EFO	anatomy basic component	orbit
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	BTO:0004687	"The bony socket of the eye." []	1136944	\N	\N	EFO	3	EFO	organism part	orbit
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	BTO:0004687	"The bony socket of the eye." []	2020100	\N	\N	EFO	4	EFO	material entity	orbit
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	BTO:0004687	"The bony socket of the eye." []	3175317	\N	\N	EFO	5	EFO	experimental factor	orbit
CHEBI:100241	\N	\N	"This gene is involved in cell adhesion, differentiation, division and stress response." []	CHEBI:100241	"This gene is involved in cell adhesion, differentiation, division and stress response." []	61948	\N	\N	EFO	0	EFO	ciprofloxacin	ciprofloxacin
CHEBI:23888	CHEBI:100241	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:100241	"This gene is involved in cell adhesion, differentiation, division and stress response." []	201315	\N	\N	EFO	1	EFO	drug	ciprofloxacin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:100241	"This gene is involved in cell adhesion, differentiation, division and stress response." []	554232	\N	\N	EFO	2	EFO	chemical compound	ciprofloxacin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:100241	"This gene is involved in cell adhesion, differentiation, division and stress response." []	1136945	\N	\N	EFO	3	EFO	chemical entity	ciprofloxacin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:100241	"This gene is involved in cell adhesion, differentiation, division and stress response." []	2020101	\N	\N	EFO	4	EFO	material entity	ciprofloxacin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:100241	"This gene is involved in cell adhesion, differentiation, division and stress response." []	3175318	\N	\N	EFO	5	EFO	experimental factor	ciprofloxacin
CHEBI:100246	\N	\N	"\\"A synthetic fluoroquinolone with broad-spectrum antibacterial activity against most gram-negative and gram-positive bacteria. Norfloxacin is bactericidal and its mode of action depends on blocking of bacterial DNA replication by binding itself to an enzyme called DNA gyrase.\\" []" []	CHEBI:100246	"\\"A synthetic fluoroquinolone with broad-spectrum antibacterial activity against most gram-negative and gram-positive bacteria. Norfloxacin is bactericidal and its mode of action depends on blocking of bacterial DNA replication by binding itself to an enzyme called DNA gyrase.\\" []" []	61949	\N	\N	EFO	0	EFO	norfloxacin	norfloxacin
CHEBI:23888	CHEBI:100246	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:100246	"\\"A synthetic fluoroquinolone with broad-spectrum antibacterial activity against most gram-negative and gram-positive bacteria. Norfloxacin is bactericidal and its mode of action depends on blocking of bacterial DNA replication by binding itself to an enzyme called DNA gyrase.\\" []" []	201316	\N	\N	EFO	1	EFO	drug	norfloxacin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:100246	"\\"A synthetic fluoroquinolone with broad-spectrum antibacterial activity against most gram-negative and gram-positive bacteria. Norfloxacin is bactericidal and its mode of action depends on blocking of bacterial DNA replication by binding itself to an enzyme called DNA gyrase.\\" []" []	554233	\N	\N	EFO	2	EFO	chemical compound	norfloxacin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:100246	"\\"A synthetic fluoroquinolone with broad-spectrum antibacterial activity against most gram-negative and gram-positive bacteria. Norfloxacin is bactericidal and its mode of action depends on blocking of bacterial DNA replication by binding itself to an enzyme called DNA gyrase.\\" []" []	1136946	\N	\N	EFO	3	EFO	chemical entity	norfloxacin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:100246	"\\"A synthetic fluoroquinolone with broad-spectrum antibacterial activity against most gram-negative and gram-positive bacteria. Norfloxacin is bactericidal and its mode of action depends on blocking of bacterial DNA replication by binding itself to an enzyme called DNA gyrase.\\" []" []	2020102	\N	\N	EFO	4	EFO	material entity	norfloxacin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:100246	"\\"A synthetic fluoroquinolone with broad-spectrum antibacterial activity against most gram-negative and gram-positive bacteria. Norfloxacin is bactericidal and its mode of action depends on blocking of bacterial DNA replication by binding itself to an enzyme called DNA gyrase.\\" []" []	3175319	\N	\N	EFO	5	EFO	experimental factor	norfloxacin
CHEBI:10033	\N	\N	"" []	CHEBI:10033	"" []	61950	\N	\N	EFO	0	EFO	warfarin	warfarin
CHEBI:23888	CHEBI:10033	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:10033	"" []	201317	\N	\N	EFO	1	EFO	drug	warfarin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:10033	"" []	554234	\N	\N	EFO	2	EFO	chemical compound	warfarin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:10033	"" []	1136947	\N	\N	EFO	3	EFO	chemical entity	warfarin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:10033	"" []	2020103	\N	\N	EFO	4	EFO	material entity	warfarin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:10033	"" []	3175320	\N	\N	EFO	5	EFO	experimental factor	warfarin
CHEBI:101278	\N	\N	"" []	CHEBI:101278	"" []	61951	\N	\N	EFO	0	EFO	diltiazem	diltiazem
CHEBI:37577	CHEBI:101278	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:101278	"" []	201318	\N	\N	EFO	1	EFO	chemical compound	diltiazem
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:101278	"" []	554235	\N	\N	EFO	2	EFO	chemical entity	diltiazem
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:101278	"" []	1136948	\N	\N	EFO	3	EFO	material entity	diltiazem
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:101278	"" []	2020104	\N	\N	EFO	4	EFO	experimental factor	diltiazem
CHEBI:114785	\N	\N	"A quinazoline compound having a (3-ethynylphenyl)amino group at the 4-position and two 2-methoxyethoxy groups at the 6- and 7-positions." []	CHEBI:114785	"A quinazoline compound having a (3-ethynylphenyl)amino group at the 4-position and two 2-methoxyethoxy groups at the 6- and 7-positions." []	61952	\N	\N	EFO	0	EFO	erlotinib	erlotinib
CHEBI:37577	CHEBI:114785	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:114785	"A quinazoline compound having a (3-ethynylphenyl)amino group at the 4-position and two 2-methoxyethoxy groups at the 6- and 7-positions." []	201319	\N	\N	EFO	1	EFO	chemical compound	erlotinib
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:114785	"A quinazoline compound having a (3-ethynylphenyl)amino group at the 4-position and two 2-methoxyethoxy groups at the 6- and 7-positions." []	554236	\N	\N	EFO	2	EFO	chemical entity	erlotinib
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:114785	"A quinazoline compound having a (3-ethynylphenyl)amino group at the 4-position and two 2-methoxyethoxy groups at the 6- and 7-positions." []	1136949	\N	\N	EFO	3	EFO	material entity	erlotinib
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:114785	"A quinazoline compound having a (3-ethynylphenyl)amino group at the 4-position and two 2-methoxyethoxy groups at the 6- and 7-positions." []	2020105	\N	\N	EFO	4	EFO	experimental factor	erlotinib
CHEBI:1224	\N	\N	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	CHEBI:1224	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	61953	\N	\N	EFO	0	EFO	2-nitrofluorene	2-nitrofluorene
CHEBI:37577	CHEBI:1224	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:1224	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	201320	\N	\N	EFO	1	EFO	chemical compound	2-nitrofluorene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:1224	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	554237	\N	\N	EFO	2	EFO	chemical entity	2-nitrofluorene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:1224	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	1136950	\N	\N	EFO	3	EFO	material entity	2-nitrofluorene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:1224	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	2020106	\N	\N	EFO	4	EFO	experimental factor	2-nitrofluorene
CHEBI:124991	\N	\N	"" []	CHEBI:124991	"" []	61954	\N	\N	EFO	0	EFO	cefalotin	cefalotin
CHEBI:37577	CHEBI:124991	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:124991	"" []	201321	\N	\N	EFO	1	EFO	chemical compound	cefalotin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:124991	"" []	554238	\N	\N	EFO	2	EFO	chemical entity	cefalotin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:124991	"" []	1136951	\N	\N	EFO	3	EFO	material entity	cefalotin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:124991	"" []	2020107	\N	\N	EFO	4	EFO	experimental factor	cefalotin
CHEBI:12777	\N	\N	"" []	CHEBI:12777	"" []	61955	\N	\N	EFO	0	EFO	vitamin A	vitamin A
CHEBI:37577	CHEBI:12777	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:12777	"" []	201322	\N	\N	EFO	1	EFO	chemical compound	vitamin A
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:12777	"" []	554239	\N	\N	EFO	2	EFO	chemical entity	vitamin A
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:12777	"" []	1136952	\N	\N	EFO	3	EFO	material entity	vitamin A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:12777	"" []	2020108	\N	\N	EFO	4	EFO	experimental factor	vitamin A
CHEBI:1367	\N	\N	"A tetrachlorobiphenyl that has formula C12H6Cl4." []	CHEBI:1367	"A tetrachlorobiphenyl that has formula C12H6Cl4." []	61956	\N	\N	EFO	0	EFO	3,3',4,4'-tetrachlorobiphenyl	3,3',4,4'-tetrachlorobiphenyl
CHEBI:37577	CHEBI:1367	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:1367	"A tetrachlorobiphenyl that has formula C12H6Cl4." []	201323	\N	\N	EFO	1	EFO	chemical compound	3,3',4,4'-tetrachlorobiphenyl
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:1367	"A tetrachlorobiphenyl that has formula C12H6Cl4." []	554240	\N	\N	EFO	2	EFO	chemical entity	3,3',4,4'-tetrachlorobiphenyl
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:1367	"A tetrachlorobiphenyl that has formula C12H6Cl4." []	1136953	\N	\N	EFO	3	EFO	material entity	3,3',4,4'-tetrachlorobiphenyl
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:1367	"A tetrachlorobiphenyl that has formula C12H6Cl4." []	2020109	\N	\N	EFO	4	EFO	experimental factor	3,3',4,4'-tetrachlorobiphenyl
CHEBI:13705	\N	\N	"The determination of the amount of complement C4 present in a sample." []	CHEBI:13705	"The determination of the amount of complement C4 present in a sample." []	61957	\N	\N	EFO	0	EFO	acetoacetate	acetoacetate
CHEBI:37577	CHEBI:13705	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:13705	"The determination of the amount of complement C4 present in a sample." []	201324	\N	\N	EFO	1	EFO	chemical compound	acetoacetate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:13705	"The determination of the amount of complement C4 present in a sample." []	554241	\N	\N	EFO	2	EFO	chemical entity	acetoacetate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:13705	"The determination of the amount of complement C4 present in a sample." []	1136954	\N	\N	EFO	3	EFO	material entity	acetoacetate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:13705	"The determination of the amount of complement C4 present in a sample." []	2020110	\N	\N	EFO	4	EFO	experimental factor	acetoacetate
CHEBI:15075	\N	\N	"A selenium oxoanion that has formula O4Se." []	CHEBI:15075	"A selenium oxoanion that has formula O4Se." []	61958	\N	\N	EFO	0	EFO	selenate	selenate
CHEBI:37577	CHEBI:15075	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15075	"A selenium oxoanion that has formula O4Se." []	201325	\N	\N	EFO	1	EFO	chemical compound	selenate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15075	"A selenium oxoanion that has formula O4Se." []	554242	\N	\N	EFO	2	EFO	chemical entity	selenate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15075	"A selenium oxoanion that has formula O4Se." []	1136955	\N	\N	EFO	3	EFO	material entity	selenate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15075	"A selenium oxoanion that has formula O4Se." []	2020111	\N	\N	EFO	4	EFO	experimental factor	selenate
CHEBI:15343	\N	\N	"" []	CHEBI:15343	"" []	61959	\N	\N	EFO	0	EFO	acetaldehyde	acetaldehyde
CHEBI:37577	CHEBI:15343	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15343	"" []	201326	\N	\N	EFO	1	EFO	chemical compound	acetaldehyde
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15343	"" []	554243	\N	\N	EFO	2	EFO	chemical entity	acetaldehyde
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15343	"" []	1136956	\N	\N	EFO	3	EFO	material entity	acetaldehyde
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15343	"" []	2020112	\N	\N	EFO	4	EFO	experimental factor	acetaldehyde
CHEBI:15347	\N	\N	"A propanone that has formula C3H6O." []	CHEBI:15347	"A propanone that has formula C3H6O." []	61960	\N	\N	EFO	0	EFO	acetone	acetone
CHEBI:37577	CHEBI:15347	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15347	"A propanone that has formula C3H6O." []	201327	\N	\N	EFO	1	EFO	chemical compound	acetone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15347	"A propanone that has formula C3H6O." []	554244	\N	\N	EFO	2	EFO	chemical entity	acetone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15347	"A propanone that has formula C3H6O." []	1136957	\N	\N	EFO	3	EFO	material entity	acetone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15347	"A propanone that has formula C3H6O." []	2020113	\N	\N	EFO	4	EFO	experimental factor	acetone
CHEBI:15365	\N	\N	"" []	CHEBI:15365	"" []	61961	\N	\N	EFO	0	EFO	acetylsalicylic acid	acetylsalicylic acid
CHEBI:23888	CHEBI:15365	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:15365	"" []	201328	\N	\N	EFO	1	EFO	drug	acetylsalicylic acid
EFO:0004416	CHEBI:15365	\N	"" []	CHEBI:15365	"" []	201329	\N	\N	EFO	1	EFO	acid	acetylsalicylic acid
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15365	"" []	554245	\N	\N	EFO	2	EFO	chemical compound	acetylsalicylic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15365	"" []	554246	\N	\N	EFO	2	EFO	chemical compound	acetylsalicylic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15365	"" []	1136958	\N	\N	EFO	3	EFO	chemical entity	acetylsalicylic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15365	"" []	2020114	\N	\N	EFO	4	EFO	material entity	acetylsalicylic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15365	"" []	3175321	\N	\N	EFO	5	EFO	experimental factor	acetylsalicylic acid
CHEBI:15366	\N	\N	"A simple carboxylic acid containing two carbons; the active ingredient in vinegar. The building block of natural fatty acids which, unlike them, does not occur in natural triglycerides. Reported to suppress accumulation of body fat and liver lipids in mice." []	CHEBI:15366	"A simple carboxylic acid containing two carbons; the active ingredient in vinegar. The building block of natural fatty acids which, unlike them, does not occur in natural triglycerides. Reported to suppress accumulation of body fat and liver lipids in mice." []	61962	\N	\N	EFO	0	EFO	acetic acid	acetic acid
EFO:0004416	CHEBI:15366	\N	"" []	CHEBI:15366	"A simple carboxylic acid containing two carbons; the active ingredient in vinegar. The building block of natural fatty acids which, unlike them, does not occur in natural triglycerides. Reported to suppress accumulation of body fat and liver lipids in mice." []	201330	\N	\N	EFO	1	EFO	acid	acetic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15366	"A simple carboxylic acid containing two carbons; the active ingredient in vinegar. The building block of natural fatty acids which, unlike them, does not occur in natural triglycerides. Reported to suppress accumulation of body fat and liver lipids in mice." []	554247	\N	\N	EFO	2	EFO	chemical compound	acetic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15366	"A simple carboxylic acid containing two carbons; the active ingredient in vinegar. The building block of natural fatty acids which, unlike them, does not occur in natural triglycerides. Reported to suppress accumulation of body fat and liver lipids in mice." []	1136959	\N	\N	EFO	3	EFO	chemical entity	acetic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15366	"A simple carboxylic acid containing two carbons; the active ingredient in vinegar. The building block of natural fatty acids which, unlike them, does not occur in natural triglycerides. Reported to suppress accumulation of body fat and liver lipids in mice." []	2020115	\N	\N	EFO	4	EFO	material entity	acetic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15366	"A simple carboxylic acid containing two carbons; the active ingredient in vinegar. The building block of natural fatty acids which, unlike them, does not occur in natural triglycerides. Reported to suppress accumulation of body fat and liver lipids in mice." []	3175322	\N	\N	EFO	5	EFO	experimental factor	acetic acid
CHEBI:15367	\N	\N	"" []	CHEBI:15367	"" []	61963	\N	\N	EFO	0	EFO	all-trans-retinoic acid	all-trans-retinoic acid
CHEBI:26536	CHEBI:15367	\N	"A retinoid that has formula C20H28O2." []	CHEBI:15367	"" []	201331	\N	\N	EFO	1	EFO	retinoic acid	all-trans-retinoic acid
EFO:0004416	CHEBI:26536	\N	"" []	CHEBI:15367	"" []	554248	\N	\N	EFO	2	EFO	acid	all-trans-retinoic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15367	"" []	1136960	\N	\N	EFO	3	EFO	chemical compound	all-trans-retinoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15367	"" []	2020116	\N	\N	EFO	4	EFO	chemical entity	all-trans-retinoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15367	"" []	3175323	\N	\N	EFO	5	EFO	material entity	all-trans-retinoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15367	"" []	4386506	\N	\N	EFO	6	EFO	experimental factor	all-trans-retinoic acid
CHEBI:153671	\N	\N	"" []	CHEBI:153671	"" []	61964	\N	\N	EFO	0	EFO	endothelin-1	endothelin-1
CHEBI:23888	CHEBI:153671	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:153671	"" []	201332	\N	\N	EFO	1	EFO	drug	endothelin-1
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:153671	"" []	554249	\N	\N	EFO	2	EFO	chemical compound	endothelin-1
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:153671	"" []	1136961	\N	\N	EFO	3	EFO	chemical entity	endothelin-1
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:153671	"" []	2020117	\N	\N	EFO	4	EFO	material entity	endothelin-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:153671	"" []	3175324	\N	\N	EFO	5	EFO	experimental factor	endothelin-1
CHEBI:15368	\N	\N	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	CHEBI:15368	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	61965	\N	\N	EFO	0	EFO	acrolein	acrolein
CHEBI:37577	CHEBI:15368	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15368	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	201333	\N	\N	EFO	1	EFO	chemical compound	acrolein
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15368	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	554250	\N	\N	EFO	2	EFO	chemical entity	acrolein
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15368	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	1136962	\N	\N	EFO	3	EFO	material entity	acrolein
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15368	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	2020118	\N	\N	EFO	4	EFO	experimental factor	acrolein
CHEBI:15372	\N	\N	"" []	CHEBI:15372	"" []	61966	\N	\N	EFO	0	EFO	5,6,7,8-tetrahydrobiopterin	5,6,7,8-tetrahydrobiopterin
CHEBI:37577	CHEBI:15372	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15372	"" []	201334	\N	\N	EFO	1	EFO	chemical compound	5,6,7,8-tetrahydrobiopterin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15372	"" []	554251	\N	\N	EFO	2	EFO	chemical entity	5,6,7,8-tetrahydrobiopterin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15372	"" []	1136963	\N	\N	EFO	3	EFO	material entity	5,6,7,8-tetrahydrobiopterin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15372	"" []	2020119	\N	\N	EFO	4	EFO	experimental factor	5,6,7,8-tetrahydrobiopterin
CHEBI:15377	\N	\N	"An inorganic hydroxy compound that has formula H2O." []	CHEBI:15377	"An inorganic hydroxy compound that has formula H2O." []	61967	\N	\N	EFO	0	EFO	water	water
CHEBI:37577	CHEBI:15377	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15377	"An inorganic hydroxy compound that has formula H2O." []	201335	\N	\N	EFO	1	EFO	chemical compound	water
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15377	"An inorganic hydroxy compound that has formula H2O." []	554252	\N	\N	EFO	2	EFO	chemical entity	water
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15377	"An inorganic hydroxy compound that has formula H2O." []	1136964	\N	\N	EFO	3	EFO	material entity	water
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15377	"An inorganic hydroxy compound that has formula H2O." []	2020120	\N	\N	EFO	4	EFO	experimental factor	water
CHEBI:15379	\N	\N	"An elemental molecule that has formula O2." []	CHEBI:15379	"An elemental molecule that has formula O2." []	61968	\N	\N	EFO	0	EFO	oxygen	oxygen
CHEBI:33250	CHEBI:15379	\N	"" []	CHEBI:15379	"An elemental molecule that has formula O2." []	201336	\N	\N	EFO	1	EFO	element	oxygen
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:15379	"An elemental molecule that has formula O2." []	554253	\N	\N	EFO	2	EFO	chemical entity	oxygen
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15379	"An elemental molecule that has formula O2." []	1136965	\N	\N	EFO	3	EFO	material entity	oxygen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15379	"An elemental molecule that has formula O2." []	2020121	\N	\N	EFO	4	EFO	experimental factor	oxygen
CHEBI:15414	\N	\N	"" []	CHEBI:15414	"" []	61969	\N	\N	EFO	0	EFO	S-adenosyl-L-methionine	S-adenosyl-L-methionine
CHEBI:33709	CHEBI:15414	\N	"" []	CHEBI:15414	"" []	201337	\N	\N	EFO	1	EFO	amino acid	S-adenosyl-L-methionine
EFO:0004416	CHEBI:33709	\N	"" []	CHEBI:15414	"" []	554254	\N	\N	EFO	2	EFO	acid	S-adenosyl-L-methionine
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15414	"" []	1136966	\N	\N	EFO	3	EFO	chemical compound	S-adenosyl-L-methionine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15414	"" []	2020122	\N	\N	EFO	4	EFO	chemical entity	S-adenosyl-L-methionine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15414	"" []	3175325	\N	\N	EFO	5	EFO	material entity	S-adenosyl-L-methionine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15414	"" []	4386507	\N	\N	EFO	6	EFO	experimental factor	S-adenosyl-L-methionine
CHEBI:15551	\N	\N	"" []	CHEBI:15551	"" []	61970	\N	\N	EFO	0	EFO	prostaglandin E2	prostaglandin E2
CHEBI:37577	CHEBI:15551	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15551	"" []	201338	\N	\N	EFO	1	EFO	chemical compound	prostaglandin E2
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15551	"" []	554255	\N	\N	EFO	2	EFO	chemical entity	prostaglandin E2
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15551	"" []	1136967	\N	\N	EFO	3	EFO	material entity	prostaglandin E2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15551	"" []	2020123	\N	\N	EFO	4	EFO	experimental factor	prostaglandin E2
CHEBI:15560	\N	\N	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	CHEBI:15560	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	61971	\N	\N	EFO	0	EFO	(15Z)-12-oxophyto-10,15-dienoic acid	(15Z)-12-oxophyto-10,15-dienoic acid
EFO:0004416	CHEBI:15560	\N	"" []	CHEBI:15560	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	201339	\N	\N	EFO	1	EFO	acid	(15Z)-12-oxophyto-10,15-dienoic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15560	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	554256	\N	\N	EFO	2	EFO	chemical compound	(15Z)-12-oxophyto-10,15-dienoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15560	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	1136968	\N	\N	EFO	3	EFO	chemical entity	(15Z)-12-oxophyto-10,15-dienoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15560	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	2020124	\N	\N	EFO	4	EFO	material entity	(15Z)-12-oxophyto-10,15-dienoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15560	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	3175326	\N	\N	EFO	5	EFO	experimental factor	(15Z)-12-oxophyto-10,15-dienoic acid
CHEBI:15738	\N	\N	"An organic heterooctacyclic compound that has formula C28H26N4O3." []	CHEBI:15738	"An organic heterooctacyclic compound that has formula C28H26N4O3." []	61972	\N	\N	EFO	0	EFO	staurosporine	staurosporine
CHEBI:37577	CHEBI:15738	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15738	"An organic heterooctacyclic compound that has formula C28H26N4O3." []	201340	\N	\N	EFO	1	EFO	chemical compound	staurosporine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15738	"An organic heterooctacyclic compound that has formula C28H26N4O3." []	554257	\N	\N	EFO	2	EFO	chemical entity	staurosporine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15738	"An organic heterooctacyclic compound that has formula C28H26N4O3." []	1136969	\N	\N	EFO	3	EFO	material entity	staurosporine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15738	"An organic heterooctacyclic compound that has formula C28H26N4O3." []	2020125	\N	\N	EFO	4	EFO	experimental factor	staurosporine
CHEBI:15756	\N	\N	"A straight-chain, sixteen-carbon, saturated long-chain fatty acid." []	CHEBI:15756	"A straight-chain, sixteen-carbon, saturated long-chain fatty acid." []	61973	\N	\N	EFO	0	EFO	Hexadecanoic acid	Hexadecanoic acid
CHEBI:35366	CHEBI:15756	\N	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	CHEBI:15756	"A straight-chain, sixteen-carbon, saturated long-chain fatty acid." []	201341	\N	\N	EFO	1	EFO	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Hexadecanoic acid
CHEBI:18059	CHEBI:35366	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:15756	"A straight-chain, sixteen-carbon, saturated long-chain fatty acid." []	554258	\N	\N	EFO	2	EFO	lipid	Hexadecanoic acid
EFO:0004416	CHEBI:35366	\N	"" []	CHEBI:15756	"A straight-chain, sixteen-carbon, saturated long-chain fatty acid." []	554259	\N	\N	EFO	2	EFO	acid	Hexadecanoic acid
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15756	"A straight-chain, sixteen-carbon, saturated long-chain fatty acid." []	1136970	\N	\N	EFO	3	EFO	chemical compound	Hexadecanoic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15756	"A straight-chain, sixteen-carbon, saturated long-chain fatty acid." []	1136971	\N	\N	EFO	3	EFO	chemical compound	Hexadecanoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15756	"A straight-chain, sixteen-carbon, saturated long-chain fatty acid." []	2020126	\N	\N	EFO	4	EFO	chemical entity	Hexadecanoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15756	"A straight-chain, sixteen-carbon, saturated long-chain fatty acid." []	3175327	\N	\N	EFO	5	EFO	material entity	Hexadecanoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15756	"A straight-chain, sixteen-carbon, saturated long-chain fatty acid." []	4386508	\N	\N	EFO	6	EFO	experimental factor	Hexadecanoic acid
CHEBI:15767	\N	\N	"" []	CHEBI:15767	"" []	61974	\N	\N	EFO	0	EFO	dichloromethane	dichloromethane
CHEBI:37577	CHEBI:15767	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15767	"" []	201342	\N	\N	EFO	1	EFO	chemical compound	dichloromethane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15767	"" []	554260	\N	\N	EFO	2	EFO	chemical entity	dichloromethane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15767	"" []	1136972	\N	\N	EFO	3	EFO	material entity	dichloromethane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15767	"" []	2020127	\N	\N	EFO	4	EFO	experimental factor	dichloromethane
CHEBI:15843	\N	\N	"" []	CHEBI:15843	"" []	61975	\N	\N	EFO	0	EFO	arachidonic acid	arachidonic acid
EFO:0004416	CHEBI:15843	\N	"" []	CHEBI:15843	"" []	201343	\N	\N	EFO	1	EFO	acid	arachidonic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15843	"" []	554261	\N	\N	EFO	2	EFO	chemical compound	arachidonic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15843	"" []	1136973	\N	\N	EFO	3	EFO	chemical entity	arachidonic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15843	"" []	2020128	\N	\N	EFO	4	EFO	material entity	arachidonic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15843	"" []	3175328	\N	\N	EFO	5	EFO	experimental factor	arachidonic acid
CHEBI:15866	\N	\N	"A deoxyglucose that has formula C6H12O5." []	CHEBI:15866	"A deoxyglucose that has formula C6H12O5." []	61976	\N	\N	EFO	0	EFO	2-deoxy-D-glucose	2-deoxy-D-glucose
CHEBI:24431	CHEBI:15866	\N	"" []	CHEBI:15866	"A deoxyglucose that has formula C6H12O5." []	201344	\N	\N	EFO	1	EFO	chemical entity	2-deoxy-D-glucose
CHEBI:37577	CHEBI:15866	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15866	"A deoxyglucose that has formula C6H12O5." []	201345	\N	\N	EFO	1	EFO	chemical compound	2-deoxy-D-glucose
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15866	"A deoxyglucose that has formula C6H12O5." []	554262	\N	\N	EFO	2	EFO	chemical entity	2-deoxy-D-glucose
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15866	"A deoxyglucose that has formula C6H12O5." []	1136974	\N	\N	EFO	3	EFO	material entity	2-deoxy-D-glucose
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15866	"A deoxyglucose that has formula C6H12O5." []	2020129	\N	\N	EFO	4	EFO	experimental factor	2-deoxy-D-glucose
CHEBI:15882	\N	\N	"A phenol that has formula C6H6O." []	CHEBI:15882	"A phenol that has formula C6H6O." []	61977	\N	\N	EFO	0	EFO	phenol	phenol
CHEBI:37577	CHEBI:15882	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15882	"A phenol that has formula C6H6O." []	201346	\N	\N	EFO	1	EFO	chemical compound	phenol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15882	"A phenol that has formula C6H6O." []	554263	\N	\N	EFO	2	EFO	chemical entity	phenol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15882	"A phenol that has formula C6H6O." []	1136975	\N	\N	EFO	3	EFO	material entity	phenol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15882	"A phenol that has formula C6H6O." []	2020130	\N	\N	EFO	4	EFO	experimental factor	phenol
CHEBI:15929	\N	\N	"" []	CHEBI:15929	"" []	61978	\N	\N	EFO	0	EFO	methyl (-)-jasmonate	methyl (-)-jasmonate
CHEBI:24621	CHEBI:15929	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:15929	"" []	201347	\N	\N	EFO	1	EFO	hormone	methyl (-)-jasmonate
CHEBI:26158	CHEBI:15929	\N	"" []	CHEBI:15929	"" []	201348	\N	\N	EFO	1	EFO	phytohormone	methyl (-)-jasmonate
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15929	"" []	554264	\N	\N	EFO	2	EFO	chemical compound	methyl (-)-jasmonate
EFO:0001824	CHEBI:26158	\N	"" []	CHEBI:15929	"" []	554265	\N	\N	EFO	2	EFO	hormone role	methyl (-)-jasmonate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15929	"" []	1136976	\N	\N	EFO	3	EFO	chemical entity	methyl (-)-jasmonate
CHEBI:24432	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:15929	"" []	1136977	\N	\N	EFO	3	EFO	biological role	methyl (-)-jasmonate
CHEBI:51086	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:15929	"" []	1136978	\N	\N	EFO	3	EFO	chemical role	methyl (-)-jasmonate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15929	"" []	2020131	\N	\N	EFO	4	EFO	material entity	methyl (-)-jasmonate
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:15929	"" []	2020132	\N	\N	EFO	4	EFO	role	methyl (-)-jasmonate
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:15929	"" []	2020133	\N	\N	EFO	4	EFO	role	methyl (-)-jasmonate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15929	"" []	3175329	\N	\N	EFO	5	EFO	experimental factor	methyl (-)-jasmonate
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:15929	"" []	3175330	\N	\N	EFO	5	EFO	material property	methyl (-)-jasmonate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15929	"" []	4386509	\N	\N	EFO	6	EFO	experimental factor	methyl (-)-jasmonate
CHEBI:15930	\N	\N	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	CHEBI:15930	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	61979	\N	\N	EFO	0	EFO	atrazine	atrazine
CHEBI:37577	CHEBI:15930	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15930	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	201349	\N	\N	EFO	1	EFO	chemical compound	atrazine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15930	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	554266	\N	\N	EFO	2	EFO	chemical entity	atrazine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15930	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	1136979	\N	\N	EFO	3	EFO	material entity	atrazine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15930	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	2020134	\N	\N	EFO	4	EFO	experimental factor	atrazine
CHEBI:15940	\N	\N	"" []	CHEBI:15940	"" []	61980	\N	\N	EFO	0	EFO	nicotinic acid	nicotinic acid
CHEBI:37577	CHEBI:15940	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15940	"" []	201350	\N	\N	EFO	1	EFO	chemical compound	nicotinic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15940	"" []	554267	\N	\N	EFO	2	EFO	chemical entity	nicotinic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15940	"" []	1136980	\N	\N	EFO	3	EFO	material entity	nicotinic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15940	"" []	2020135	\N	\N	EFO	4	EFO	experimental factor	nicotinic acid
CHEBI:15956	\N	\N	"" []	CHEBI:15956	"" []	61981	\N	\N	EFO	0	EFO	biotin	biotin
CHEBI:37577	CHEBI:15956	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15956	"" []	201351	\N	\N	EFO	1	EFO	chemical compound	biotin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15956	"" []	554268	\N	\N	EFO	2	EFO	chemical entity	biotin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15956	"" []	1136981	\N	\N	EFO	3	EFO	material entity	biotin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15956	"" []	2020136	\N	\N	EFO	4	EFO	experimental factor	biotin
CHEBI:15978	\N	\N	"" []	CHEBI:15978	"" []	61982	\N	\N	EFO	0	EFO	sn-glycerol 3-phosphate	sn-glycerol 3-phosphate
CHEBI:37577	CHEBI:15978	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:15978	"" []	201352	\N	\N	EFO	1	EFO	chemical compound	sn-glycerol 3-phosphate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:15978	"" []	554269	\N	\N	EFO	2	EFO	chemical entity	sn-glycerol 3-phosphate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:15978	"" []	1136982	\N	\N	EFO	3	EFO	material entity	sn-glycerol 3-phosphate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:15978	"" []	2020137	\N	\N	EFO	4	EFO	experimental factor	sn-glycerol 3-phosphate
CHEBI:16038	\N	\N	"" []	CHEBI:16038	"" []	61983	\N	\N	EFO	0	EFO	phosphatidylethanolamine	phosphatidylethanolamine
CHEBI:16247	CHEBI:16038	\N	"" []	CHEBI:16038	"" []	201353	\N	\N	EFO	1	EFO	phospholipid	phosphatidylethanolamine
CHEBI:18059	CHEBI:16247	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:16038	"" []	554270	\N	\N	EFO	2	EFO	lipid	phosphatidylethanolamine
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16038	"" []	1136983	\N	\N	EFO	3	EFO	chemical compound	phosphatidylethanolamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16038	"" []	2020138	\N	\N	EFO	4	EFO	chemical entity	phosphatidylethanolamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16038	"" []	3175331	\N	\N	EFO	5	EFO	material entity	phosphatidylethanolamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16038	"" []	4386510	\N	\N	EFO	6	EFO	experimental factor	phosphatidylethanolamine
CHEBI:16113	\N	\N	"The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils." []	CHEBI:16113	"The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils." []	61984	\N	\N	EFO	0	EFO	cholesterol	cholesterol
EFO:0003836	CHEBI:16113	\N	"Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes." []	CHEBI:16113	"The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils." []	201354	\N	\N	EFO	1	EFO	lipoprotein	cholesterol
CHEBI:36080	EFO:0003836	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	CHEBI:16113	"The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils." []	554271	\N	\N	EFO	2	EFO	protein	cholesterol
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16113	"The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils." []	1136984	\N	\N	EFO	3	EFO	chemical compound	cholesterol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16113	"The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils." []	2020139	\N	\N	EFO	4	EFO	chemical entity	cholesterol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16113	"The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils." []	3175332	\N	\N	EFO	5	EFO	material entity	cholesterol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16113	"The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils." []	4386511	\N	\N	EFO	6	EFO	experimental factor	cholesterol
CHEBI:16196	\N	\N	"An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry." []	CHEBI:16196	"An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry." []	61985	\N	\N	EFO	0	EFO	oleic acid	oleic acid
EFO:0004416	CHEBI:16196	\N	"" []	CHEBI:16196	"An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry." []	201355	\N	\N	EFO	1	EFO	acid	oleic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16196	"An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry." []	554272	\N	\N	EFO	2	EFO	chemical compound	oleic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16196	"An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry." []	1136985	\N	\N	EFO	3	EFO	chemical entity	oleic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16196	"An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry." []	2020140	\N	\N	EFO	4	EFO	material entity	oleic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16196	"An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry." []	3175333	\N	\N	EFO	5	EFO	experimental factor	oleic acid
CHEBI:16236	\N	\N	"An ethanol that has formula C2H6O." []	CHEBI:16236	"An ethanol that has formula C2H6O." []	61986	\N	\N	EFO	0	EFO	ethanol	ethanol
CHEBI:24431	CHEBI:16236	\N	"" []	CHEBI:16236	"An ethanol that has formula C2H6O." []	201356	\N	\N	EFO	1	EFO	chemical entity	ethanol
CHEBI:37577	CHEBI:16236	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16236	"An ethanol that has formula C2H6O." []	201357	\N	\N	EFO	1	EFO	chemical compound	ethanol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16236	"An ethanol that has formula C2H6O." []	554273	\N	\N	EFO	2	EFO	chemical entity	ethanol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16236	"An ethanol that has formula C2H6O." []	1136986	\N	\N	EFO	3	EFO	material entity	ethanol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16236	"An ethanol that has formula C2H6O." []	2020141	\N	\N	EFO	4	EFO	experimental factor	ethanol
CHEBI:16240	\N	\N	"An inorganic peroxide that has formula H2O2." []	CHEBI:16240	"An inorganic peroxide that has formula H2O2." []	61987	\N	\N	EFO	0	EFO	hydrogen peroxide	hydrogen peroxide
CHEBI:24431	CHEBI:16240	\N	"" []	CHEBI:16240	"An inorganic peroxide that has formula H2O2." []	201358	\N	\N	EFO	1	EFO	chemical entity	hydrogen peroxide
CHEBI:37577	CHEBI:16240	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16240	"An inorganic peroxide that has formula H2O2." []	201359	\N	\N	EFO	1	EFO	chemical compound	hydrogen peroxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16240	"An inorganic peroxide that has formula H2O2." []	554274	\N	\N	EFO	2	EFO	chemical entity	hydrogen peroxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16240	"An inorganic peroxide that has formula H2O2." []	1136987	\N	\N	EFO	3	EFO	material entity	hydrogen peroxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16240	"An inorganic peroxide that has formula H2O2." []	2020142	\N	\N	EFO	4	EFO	experimental factor	hydrogen peroxide
CHEBI:16243	\N	\N	"A pentahydroxyflavone that has formula C15H10O7." []	CHEBI:16243	"A pentahydroxyflavone that has formula C15H10O7." []	61988	\N	\N	EFO	0	EFO	quercetin	quercetin
CHEBI:37577	CHEBI:16243	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16243	"A pentahydroxyflavone that has formula C15H10O7." []	201360	\N	\N	EFO	1	EFO	chemical compound	quercetin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16243	"A pentahydroxyflavone that has formula C15H10O7." []	554275	\N	\N	EFO	2	EFO	chemical entity	quercetin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16243	"A pentahydroxyflavone that has formula C15H10O7." []	1136988	\N	\N	EFO	3	EFO	material entity	quercetin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16243	"A pentahydroxyflavone that has formula C15H10O7." []	2020143	\N	\N	EFO	4	EFO	experimental factor	quercetin
CHEBI:16247	\N	\N	"" []	CHEBI:16247	"" []	61989	\N	\N	EFO	0	EFO	phospholipid	phospholipid
CHEBI:18059	CHEBI:16247	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:16247	"" []	201361	\N	\N	EFO	1	EFO	lipid	phospholipid
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16247	"" []	554276	\N	\N	EFO	2	EFO	chemical compound	phospholipid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16247	"" []	1136989	\N	\N	EFO	3	EFO	chemical entity	phospholipid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16247	"" []	2020144	\N	\N	EFO	4	EFO	material entity	phospholipid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16247	"" []	3175334	\N	\N	EFO	5	EFO	experimental factor	phospholipid
CHEBI:16261	\N	\N	"" []	CHEBI:16261	"" []	61990	\N	\N	EFO	0	EFO	chitosan	chitosan
CHEBI:37577	CHEBI:16261	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16261	"" []	201362	\N	\N	EFO	1	EFO	chemical compound	chitosan
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16261	"" []	554277	\N	\N	EFO	2	EFO	chemical entity	chitosan
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16261	"" []	1136990	\N	\N	EFO	3	EFO	material entity	chitosan
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16261	"" []	2020145	\N	\N	EFO	4	EFO	experimental factor	chitosan
CHEBI:16330	\N	\N	"An androgen that has formula C19H30O2." []	CHEBI:16330	"An androgen that has formula C19H30O2." []	61991	\N	\N	EFO	0	EFO	17beta-hydroxy-5alpha-androstan-3-one	17beta-hydroxy-5alpha-androstan-3-one
CHEBI:24621	CHEBI:16330	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:16330	"An androgen that has formula C19H30O2." []	201363	\N	\N	EFO	1	EFO	hormone	17beta-hydroxy-5alpha-androstan-3-one
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16330	"An androgen that has formula C19H30O2." []	554278	\N	\N	EFO	2	EFO	chemical compound	17beta-hydroxy-5alpha-androstan-3-one
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16330	"An androgen that has formula C19H30O2." []	1136991	\N	\N	EFO	3	EFO	chemical entity	17beta-hydroxy-5alpha-androstan-3-one
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16330	"An androgen that has formula C19H30O2." []	2020146	\N	\N	EFO	4	EFO	material entity	17beta-hydroxy-5alpha-androstan-3-one
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16330	"An androgen that has formula C19H30O2." []	3175335	\N	\N	EFO	5	EFO	experimental factor	17beta-hydroxy-5alpha-androstan-3-one
CHEBI:16336	\N	\N	"" []	CHEBI:16336	"" []	61992	\N	\N	EFO	0	EFO	hyaluronan	hyaluronan
CHEBI:37577	CHEBI:16336	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16336	"" []	201364	\N	\N	EFO	1	EFO	chemical compound	hyaluronan
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16336	"" []	554279	\N	\N	EFO	2	EFO	chemical entity	hyaluronan
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16336	"" []	1136992	\N	\N	EFO	3	EFO	material entity	hyaluronan
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16336	"" []	2020147	\N	\N	EFO	4	EFO	experimental factor	hyaluronan
CHEBI:16348	\N	\N	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	CHEBI:16348	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	61993	\N	\N	EFO	0	EFO	3-nitropropionic acid	3-nitropropionic acid
EFO:0004416	CHEBI:16348	\N	"" []	CHEBI:16348	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	201365	\N	\N	EFO	1	EFO	acid	3-nitropropionic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16348	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	554280	\N	\N	EFO	2	EFO	chemical compound	3-nitropropionic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16348	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	1136993	\N	\N	EFO	3	EFO	chemical entity	3-nitropropionic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16348	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	2020148	\N	\N	EFO	4	EFO	material entity	3-nitropropionic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16348	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	3175336	\N	\N	EFO	5	EFO	experimental factor	3-nitropropionic acid
CHEBI:16359	\N	\N	"A steroidal bile acid derived from cholesterol." []	CHEBI:16359	"A steroidal bile acid derived from cholesterol." []	61994	\N	\N	EFO	0	EFO	cholic acid	cholic acid
EFO:0004416	CHEBI:16359	\N	"" []	CHEBI:16359	"A steroidal bile acid derived from cholesterol." []	201366	\N	\N	EFO	1	EFO	acid	cholic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16359	"A steroidal bile acid derived from cholesterol." []	554281	\N	\N	EFO	2	EFO	chemical compound	cholic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16359	"A steroidal bile acid derived from cholesterol." []	1136994	\N	\N	EFO	3	EFO	chemical entity	cholic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16359	"A steroidal bile acid derived from cholesterol." []	2020149	\N	\N	EFO	4	EFO	material entity	cholic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16359	"A steroidal bile acid derived from cholesterol." []	3175337	\N	\N	EFO	5	EFO	experimental factor	cholic acid
CHEBI:16383	\N	\N	"An aconitate(3-) that has formula C6H3O6." []	CHEBI:16383	"An aconitate(3-) that has formula C6H3O6." []	61995	\N	\N	EFO	0	EFO	cis-aconitate(3-)	cis-aconitate(3-)
CHEBI:37577	CHEBI:16383	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16383	"An aconitate(3-) that has formula C6H3O6." []	201367	\N	\N	EFO	1	EFO	chemical compound	cis-aconitate(3-)
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16383	"An aconitate(3-) that has formula C6H3O6." []	554282	\N	\N	EFO	2	EFO	chemical entity	cis-aconitate(3-)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16383	"An aconitate(3-) that has formula C6H3O6." []	1136995	\N	\N	EFO	3	EFO	material entity	cis-aconitate(3-)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16383	"An aconitate(3-) that has formula C6H3O6." []	2020150	\N	\N	EFO	4	EFO	experimental factor	cis-aconitate(3-)
CHEBI:16411	\N	\N	"" []	CHEBI:16411	"" []	61996	\N	\N	EFO	0	EFO	indole-3-acetic acid	indole-3-acetic acid
CHEBI:24621	CHEBI:16411	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:16411	"" []	201368	\N	\N	EFO	1	EFO	hormone	indole-3-acetic acid
EFO:0004416	CHEBI:16411	\N	"" []	CHEBI:16411	"" []	201369	\N	\N	EFO	1	EFO	acid	indole-3-acetic acid
EFO:0005900	CHEBI:16411	\N	"" []	CHEBI:16411	"" []	201370	\N	\N	EFO	1	EFO	auxin	indole-3-acetic acid
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16411	"" []	554283	\N	\N	EFO	2	EFO	chemical compound	indole-3-acetic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16411	"" []	554284	\N	\N	EFO	2	EFO	chemical compound	indole-3-acetic acid
CHEBI:37577	EFO:0005900	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16411	"" []	554285	\N	\N	EFO	2	EFO	chemical compound	indole-3-acetic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16411	"" []	1136996	\N	\N	EFO	3	EFO	chemical entity	indole-3-acetic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16411	"" []	2020151	\N	\N	EFO	4	EFO	material entity	indole-3-acetic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16411	"" []	3175338	\N	\N	EFO	5	EFO	experimental factor	indole-3-acetic acid
CHEBI:16412	\N	\N	"Natural compounds consisting of a trisaccharide repeating unit (two heptose units and octulosonic acid) with oligosaccharide side chains and 3-hydroxytetradecanoic acid units (they are a major constituent of the cell walls of Gram-negative bacteria)." []	CHEBI:16412	"Natural compounds consisting of a trisaccharide repeating unit (two heptose units and octulosonic acid) with oligosaccharide side chains and 3-hydroxytetradecanoic acid units (they are a major constituent of the cell walls of Gram-negative bacteria)." []	61997	\N	\N	EFO	0	EFO	lipopolysaccharide	lipopolysaccharide
CHEBI:37577	CHEBI:16412	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16412	"Natural compounds consisting of a trisaccharide repeating unit (two heptose units and octulosonic acid) with oligosaccharide side chains and 3-hydroxytetradecanoic acid units (they are a major constituent of the cell walls of Gram-negative bacteria)." []	201371	\N	\N	EFO	1	EFO	chemical compound	lipopolysaccharide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16412	"Natural compounds consisting of a trisaccharide repeating unit (two heptose units and octulosonic acid) with oligosaccharide side chains and 3-hydroxytetradecanoic acid units (they are a major constituent of the cell walls of Gram-negative bacteria)." []	554286	\N	\N	EFO	2	EFO	chemical entity	lipopolysaccharide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16412	"Natural compounds consisting of a trisaccharide repeating unit (two heptose units and octulosonic acid) with oligosaccharide side chains and 3-hydroxytetradecanoic acid units (they are a major constituent of the cell walls of Gram-negative bacteria)." []	1136997	\N	\N	EFO	3	EFO	material entity	lipopolysaccharide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16412	"Natural compounds consisting of a trisaccharide repeating unit (two heptose units and octulosonic acid) with oligosaccharide side chains and 3-hydroxytetradecanoic acid units (they are a major constituent of the cell walls of Gram-negative bacteria)." []	2020152	\N	\N	EFO	4	EFO	experimental factor	lipopolysaccharide
CHEBI:16449	\N	\N	"An alpha-amino acid that has formula C3H7NO2." []	CHEBI:16449	"An alpha-amino acid that has formula C3H7NO2." []	61998	\N	\N	EFO	0	EFO	alanine	alanine
CHEBI:33709	CHEBI:16449	\N	"" []	CHEBI:16449	"An alpha-amino acid that has formula C3H7NO2." []	201372	\N	\N	EFO	1	EFO	amino acid	alanine
EFO:0004727	CHEBI:16449	\N	"Any intermediate or product resulting from metabolism." []	CHEBI:16449	"An alpha-amino acid that has formula C3H7NO2." []	201373	\N	\N	EFO	1	EFO	metabolite	alanine
EFO:0004416	CHEBI:33709	\N	"" []	CHEBI:16449	"An alpha-amino acid that has formula C3H7NO2." []	554287	\N	\N	EFO	2	EFO	acid	alanine
CHEBI:37577	EFO:0004727	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16449	"An alpha-amino acid that has formula C3H7NO2." []	554288	\N	\N	EFO	2	EFO	chemical compound	alanine
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16449	"An alpha-amino acid that has formula C3H7NO2." []	1136998	\N	\N	EFO	3	EFO	chemical compound	alanine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16449	"An alpha-amino acid that has formula C3H7NO2." []	2020153	\N	\N	EFO	4	EFO	chemical entity	alanine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16449	"An alpha-amino acid that has formula C3H7NO2." []	2999161	\N	\N	EFO	5	EFO	material entity	alanine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16449	"An alpha-amino acid that has formula C3H7NO2." []	4132396	\N	\N	EFO	6	EFO	experimental factor	alanine
CHEBI:16467	\N	\N	"" []	CHEBI:16467	"" []	61999	\N	\N	EFO	0	EFO	L-arginine	L-arginine
CHEBI:24431	CHEBI:16467	\N	"" []	CHEBI:16467	"" []	201374	\N	\N	EFO	1	EFO	chemical entity	L-arginine
CHEBI:33709	CHEBI:16467	\N	"" []	CHEBI:16467	"" []	201375	\N	\N	EFO	1	EFO	amino acid	L-arginine
EFO:0004416	CHEBI:33709	\N	"" []	CHEBI:16467	"" []	554289	\N	\N	EFO	2	EFO	acid	L-arginine
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16467	"" []	1137000	\N	\N	EFO	3	EFO	chemical compound	L-arginine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16467	"" []	2020155	\N	\N	EFO	4	EFO	chemical entity	L-arginine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16467	"" []	3175340	\N	\N	EFO	5	EFO	material entity	L-arginine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16467	"" []	4386512	\N	\N	EFO	6	EFO	experimental factor	L-arginine
CHEBI:16469	\N	\N	"" []	CHEBI:16469	"" []	62000	\N	\N	EFO	0	EFO	17beta-estradiol	17beta-estradiol
CHEBI:23965	CHEBI:16469	\N	"A steroid hormone that has formula C18H24O2." []	CHEBI:16469	"" []	201376	\N	\N	EFO	1	EFO	estradiol	17beta-estradiol
CHEBI:24621	CHEBI:23965	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:16469	"" []	554290	\N	\N	EFO	2	EFO	hormone	17beta-estradiol
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16469	"" []	1137001	\N	\N	EFO	3	EFO	chemical compound	17beta-estradiol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16469	"" []	2020156	\N	\N	EFO	4	EFO	chemical entity	17beta-estradiol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16469	"" []	3175341	\N	\N	EFO	5	EFO	material entity	17beta-estradiol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16469	"" []	4386513	\N	\N	EFO	6	EFO	experimental factor	17beta-estradiol
CHEBI:16482	\N	\N	"" []	CHEBI:16482	"" []	62001	\N	\N	EFO	0	EFO	naphthalene	naphthalene
CHEBI:37577	CHEBI:16482	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16482	"" []	201377	\N	\N	EFO	1	EFO	chemical compound	naphthalene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16482	"" []	554291	\N	\N	EFO	2	EFO	chemical entity	naphthalene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16482	"" []	1137002	\N	\N	EFO	3	EFO	material entity	naphthalene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16482	"" []	2020157	\N	\N	EFO	4	EFO	experimental factor	naphthalene
CHEBI:16522	\N	\N	"A zeatin that has formula C10H13N5O." []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	62002	\N	\N	EFO	0	EFO	trans-zeatin	trans-zeatin
CHEBI:23530	CHEBI:16522	\N	"" []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	201378	\N	\N	EFO	1	EFO	cytokinins	trans-zeatin
CHEBI:24621	CHEBI:16522	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	201379	\N	\N	EFO	1	EFO	hormone	trans-zeatin
CHEBI:26158	CHEBI:23530	\N	"" []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	554292	\N	\N	EFO	2	EFO	phytohormone	trans-zeatin
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	554293	\N	\N	EFO	2	EFO	chemical compound	trans-zeatin
EFO:0001824	CHEBI:26158	\N	"" []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	1137003	\N	\N	EFO	3	EFO	hormone role	trans-zeatin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	1137004	\N	\N	EFO	3	EFO	chemical entity	trans-zeatin
CHEBI:24432	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	2020158	\N	\N	EFO	4	EFO	biological role	trans-zeatin
CHEBI:51086	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	2020159	\N	\N	EFO	4	EFO	chemical role	trans-zeatin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	2020160	\N	\N	EFO	4	EFO	material entity	trans-zeatin
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	3175342	\N	\N	EFO	5	EFO	role	trans-zeatin
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	3175343	\N	\N	EFO	5	EFO	role	trans-zeatin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	3175344	\N	\N	EFO	5	EFO	experimental factor	trans-zeatin
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	4386514	\N	\N	EFO	6	EFO	material property	trans-zeatin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16522	"A zeatin that has formula C10H13N5O." []	5407757	\N	\N	EFO	7	EFO	experimental factor	trans-zeatin
CHEBI:16523	\N	\N	"The R-enantiomer of serine." []	CHEBI:16523	"The R-enantiomer of serine." []	62003	\N	\N	EFO	0	EFO	D-serine	D-serine
CHEBI:37577	CHEBI:16523	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16523	"The R-enantiomer of serine." []	201380	\N	\N	EFO	1	EFO	chemical compound	D-serine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16523	"The R-enantiomer of serine." []	554294	\N	\N	EFO	2	EFO	chemical entity	D-serine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16523	"The R-enantiomer of serine." []	1137005	\N	\N	EFO	3	EFO	material entity	D-serine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16523	"The R-enantiomer of serine." []	2020161	\N	\N	EFO	4	EFO	experimental factor	D-serine
CHEBI:16526	\N	\N	"A carbon oxide that has formula CO2." []	CHEBI:16526	"A carbon oxide that has formula CO2." []	62004	\N	\N	EFO	0	EFO	carbon dioxide	carbon dioxide
CHEBI:24431	CHEBI:16526	\N	"" []	CHEBI:16526	"A carbon oxide that has formula CO2." []	201381	\N	\N	EFO	1	EFO	chemical entity	carbon dioxide
CHEBI:37577	CHEBI:16526	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16526	"A carbon oxide that has formula CO2." []	201382	\N	\N	EFO	1	EFO	chemical compound	carbon dioxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16526	"A carbon oxide that has formula CO2." []	554295	\N	\N	EFO	2	EFO	chemical entity	carbon dioxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16526	"A carbon oxide that has formula CO2." []	1137006	\N	\N	EFO	3	EFO	material entity	carbon dioxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16526	"A carbon oxide that has formula CO2." []	2020162	\N	\N	EFO	4	EFO	experimental factor	carbon dioxide
CHEBI:16587	\N	\N	"Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)" []	CHEBI:16587	"Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)" []	62005	\N	\N	EFO	0	EFO	20-hydroxyecdysone	20-hydroxyecdysone
CHEBI:37577	CHEBI:16587	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16587	"Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)" []	201383	\N	\N	EFO	1	EFO	chemical compound	20-hydroxyecdysone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16587	"Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)" []	554296	\N	\N	EFO	2	EFO	chemical entity	20-hydroxyecdysone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16587	"Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)" []	1137007	\N	\N	EFO	3	EFO	material entity	20-hydroxyecdysone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16587	"Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)" []	2020163	\N	\N	EFO	4	EFO	experimental factor	20-hydroxyecdysone
CHEBI:16602	\N	\N	"A chloroethene that has formula C2HCl3." []	CHEBI:16602	"A chloroethene that has formula C2HCl3." []	62006	\N	\N	EFO	0	EFO	trichloroethylene	trichloroethylene
CHEBI:23888	CHEBI:16602	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:16602	"A chloroethene that has formula C2HCl3." []	201384	\N	\N	EFO	1	EFO	drug	trichloroethylene
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16602	"A chloroethene that has formula C2HCl3." []	554297	\N	\N	EFO	2	EFO	chemical compound	trichloroethylene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16602	"A chloroethene that has formula C2HCl3." []	1137008	\N	\N	EFO	3	EFO	chemical entity	trichloroethylene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16602	"A chloroethene that has formula C2HCl3." []	2020164	\N	\N	EFO	4	EFO	material entity	trichloroethylene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16602	"A chloroethene that has formula C2HCl3." []	3175345	\N	\N	EFO	5	EFO	experimental factor	trichloroethylene
CHEBI:16605	\N	\N	"" []	CHEBI:16605	"" []	62007	\N	\N	EFO	0	EFO	allyl alcohol	allyl alcohol
CHEBI:37577	CHEBI:16605	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16605	"" []	201385	\N	\N	EFO	1	EFO	chemical compound	allyl alcohol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16605	"" []	554298	\N	\N	EFO	2	EFO	chemical entity	allyl alcohol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16605	"" []	1137009	\N	\N	EFO	3	EFO	material entity	allyl alcohol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16605	"" []	2020165	\N	\N	EFO	4	EFO	experimental factor	allyl alcohol
CHEBI:16646	\N	\N	"" []	CHEBI:16646	"" []	62008	\N	\N	EFO	0	EFO	carbohydrate	carbohydrate
CHEBI:37577	CHEBI:16646	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16646	"" []	201386	\N	\N	EFO	1	EFO	chemical compound	carbohydrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16646	"" []	554299	\N	\N	EFO	2	EFO	chemical entity	carbohydrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16646	"" []	1137010	\N	\N	EFO	3	EFO	material entity	carbohydrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16646	"" []	2020166	\N	\N	EFO	4	EFO	experimental factor	carbohydrate
CHEBI:16688	\N	\N	"An ecdysteroid that has formula C27H44O6." []	CHEBI:16688	"An ecdysteroid that has formula C27H44O6." []	62009	\N	\N	EFO	0	EFO	ecdysone	ecdysone
CHEBI:24621	CHEBI:16688	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:16688	"An ecdysteroid that has formula C27H44O6." []	201387	\N	\N	EFO	1	EFO	hormone	ecdysone
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16688	"An ecdysteroid that has formula C27H44O6." []	554300	\N	\N	EFO	2	EFO	chemical compound	ecdysone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16688	"An ecdysteroid that has formula C27H44O6." []	1137011	\N	\N	EFO	3	EFO	chemical entity	ecdysone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16688	"An ecdysteroid that has formula C27H44O6." []	2020167	\N	\N	EFO	4	EFO	material entity	ecdysone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16688	"An ecdysteroid that has formula C27H44O6." []	3175346	\N	\N	EFO	5	EFO	experimental factor	ecdysone
CHEBI:16716	\N	\N	"The sixth of the seven cervical vertebrae." []	CHEBI:16716	"The sixth of the seven cervical vertebrae." []	62010	\N	\N	EFO	0	EFO	benzene	benzene
CHEBI:37577	CHEBI:16716	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16716	"The sixth of the seven cervical vertebrae." []	201388	\N	\N	EFO	1	EFO	chemical compound	benzene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16716	"The sixth of the seven cervical vertebrae." []	554301	\N	\N	EFO	2	EFO	chemical entity	benzene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16716	"The sixth of the seven cervical vertebrae." []	1137012	\N	\N	EFO	3	EFO	material entity	benzene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16716	"The sixth of the seven cervical vertebrae." []	2020168	\N	\N	EFO	4	EFO	experimental factor	benzene
CHEBI:16731	\N	\N	"The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes." []	CHEBI:16731	"The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes." []	62011	\N	\N	EFO	0	EFO	cinnamaldehyde	cinnamaldehyde
CHEBI:23888	CHEBI:16731	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:16731	"The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes." []	201389	\N	\N	EFO	1	EFO	drug	cinnamaldehyde
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16731	"The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes." []	554302	\N	\N	EFO	2	EFO	chemical compound	cinnamaldehyde
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16731	"The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes." []	1137013	\N	\N	EFO	3	EFO	chemical entity	cinnamaldehyde
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16731	"The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes." []	2020169	\N	\N	EFO	4	EFO	material entity	cinnamaldehyde
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16731	"The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes." []	3175347	\N	\N	EFO	5	EFO	experimental factor	cinnamaldehyde
CHEBI:16737	\N	\N	"" []	CHEBI:16737	"" []	62012	\N	\N	EFO	0	EFO	creatinine	creatinine
CHEBI:24532	CHEBI:16737	\N	"" []	CHEBI:16737	"" []	201390	\N	\N	EFO	1	EFO	organic heterocyclic compound	creatinine
CHEBI:37577	CHEBI:24532	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16737	"" []	554303	\N	\N	EFO	2	EFO	chemical compound	creatinine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16737	"" []	1137014	\N	\N	EFO	3	EFO	chemical entity	creatinine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16737	"" []	2020170	\N	\N	EFO	4	EFO	material entity	creatinine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16737	"" []	3175348	\N	\N	EFO	5	EFO	experimental factor	creatinine
CHEBI:16738	\N	\N	"The sixth of the seven cervical vertebrae." []	CHEBI:16738	"The sixth of the seven cervical vertebrae." []	62013	\N	\N	EFO	0	EFO	2,4-dichlorophenol	2,4-dichlorophenol
CHEBI:37577	CHEBI:16738	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16738	"The sixth of the seven cervical vertebrae." []	201391	\N	\N	EFO	1	EFO	chemical compound	2,4-dichlorophenol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16738	"The sixth of the seven cervical vertebrae." []	554304	\N	\N	EFO	2	EFO	chemical entity	2,4-dichlorophenol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16738	"The sixth of the seven cervical vertebrae." []	1137015	\N	\N	EFO	3	EFO	material entity	2,4-dichlorophenol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16738	"The sixth of the seven cervical vertebrae." []	2020171	\N	\N	EFO	4	EFO	experimental factor	2,4-dichlorophenol
CHEBI:16742	\N	\N	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	CHEBI:16742	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	62014	\N	\N	EFO	0	EFO	orotic acid	orotic acid
CHEBI:37577	CHEBI:16742	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16742	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	201392	\N	\N	EFO	1	EFO	chemical compound	orotic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16742	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	554305	\N	\N	EFO	2	EFO	chemical entity	orotic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16742	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	1137016	\N	\N	EFO	3	EFO	material entity	orotic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16742	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	2020172	\N	\N	EFO	4	EFO	experimental factor	orotic acid
CHEBI:16794	\N	\N	"" []	CHEBI:16794	"" []	62015	\N	\N	EFO	0	EFO	scopolamine	scopolamine
CHEBI:23888	CHEBI:16794	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:16794	"" []	201393	\N	\N	EFO	1	EFO	drug	scopolamine
EFO:0004417	CHEBI:16794	\N	"" []	CHEBI:16794	"" []	201394	\N	\N	EFO	1	EFO	amide	scopolamine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16794	"" []	554306	\N	\N	EFO	2	EFO	chemical compound	scopolamine
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16794	"" []	554307	\N	\N	EFO	2	EFO	chemical compound	scopolamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16794	"" []	1137017	\N	\N	EFO	3	EFO	chemical entity	scopolamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16794	"" []	2020173	\N	\N	EFO	4	EFO	material entity	scopolamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16794	"" []	3175349	\N	\N	EFO	5	EFO	experimental factor	scopolamine
CHEBI:16811	\N	\N	"" []	CHEBI:16811	"" []	62016	\N	\N	EFO	0	EFO	methionine	methionine
CHEBI:24431	CHEBI:16811	\N	"" []	CHEBI:16811	"" []	201395	\N	\N	EFO	1	EFO	chemical entity	methionine
CHEBI:33709	CHEBI:16811	\N	"" []	CHEBI:16811	"" []	201396	\N	\N	EFO	1	EFO	amino acid	methionine
EFO:0004727	CHEBI:16811	\N	"Any intermediate or product resulting from metabolism." []	CHEBI:16811	"" []	201397	\N	\N	EFO	1	EFO	metabolite	methionine
EFO:0004416	CHEBI:33709	\N	"" []	CHEBI:16811	"" []	554308	\N	\N	EFO	2	EFO	acid	methionine
CHEBI:37577	EFO:0004727	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16811	"" []	554309	\N	\N	EFO	2	EFO	chemical compound	methionine
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16811	"" []	1137018	\N	\N	EFO	3	EFO	chemical compound	methionine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16811	"" []	2020174	\N	\N	EFO	4	EFO	chemical entity	methionine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16811	"" []	2999162	\N	\N	EFO	5	EFO	material entity	methionine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16811	"" []	4132397	\N	\N	EFO	6	EFO	experimental factor	methionine
CHEBI:16814	\N	\N	"" []	CHEBI:16814	"" []	62017	\N	\N	EFO	0	EFO	dehydroepiandrosterone sulfate	dehydroepiandrosterone sulfate
CHEBI:26764	CHEBI:16814	\N	"Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE." []	CHEBI:16814	"" []	201398	\N	\N	EFO	1	EFO	steroid hormone	dehydroepiandrosterone sulfate
CHEBI:24621	CHEBI:26764	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:16814	"" []	554310	\N	\N	EFO	2	EFO	hormone	dehydroepiandrosterone sulfate
CHEBI:35341	CHEBI:26764	\N	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	CHEBI:16814	"" []	554311	\N	\N	EFO	2	EFO	steroid	dehydroepiandrosterone sulfate
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16814	"" []	1137020	\N	\N	EFO	3	EFO	chemical compound	dehydroepiandrosterone sulfate
CHEBI:37577	CHEBI:35341	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16814	"" []	1137021	\N	\N	EFO	3	EFO	chemical compound	dehydroepiandrosterone sulfate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16814	"" []	2020176	\N	\N	EFO	4	EFO	chemical entity	dehydroepiandrosterone sulfate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16814	"" []	3175351	\N	\N	EFO	5	EFO	material entity	dehydroepiandrosterone sulfate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16814	"" []	4386515	\N	\N	EFO	6	EFO	experimental factor	dehydroepiandrosterone sulfate
CHEBI:16842	\N	\N	"The simplest aldehyde." []	CHEBI:16842	"The simplest aldehyde." []	62018	\N	\N	EFO	0	EFO	formaldehyde	formaldehyde
CHEBI:37577	CHEBI:16842	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16842	"The simplest aldehyde." []	201399	\N	\N	EFO	1	EFO	chemical compound	formaldehyde
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16842	"The simplest aldehyde." []	554312	\N	\N	EFO	2	EFO	chemical entity	formaldehyde
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16842	"The simplest aldehyde." []	1137022	\N	\N	EFO	3	EFO	material entity	formaldehyde
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16842	"The simplest aldehyde." []	2020177	\N	\N	EFO	4	EFO	experimental factor	formaldehyde
CHEBI:16856	\N	\N	"GSH Glutathione is a tripeptide. It contains an unusual peptide linkage between the amine group of cysteine and the carboxyl group of the glutamate side chain. It is an antioxidant that protects cells from toxins such as free radicals." []	CHEBI:16856	"GSH Glutathione is a tripeptide. It contains an unusual peptide linkage between the amine group of cysteine and the carboxyl group of the glutamate side chain. It is an antioxidant that protects cells from toxins such as free radicals." []	62019	\N	\N	EFO	0	EFO	glutathione	glutathione
CHEBI:24431	CHEBI:16856	\N	"" []	CHEBI:16856	"GSH Glutathione is a tripeptide. It contains an unusual peptide linkage between the amine group of cysteine and the carboxyl group of the glutamate side chain. It is an antioxidant that protects cells from toxins such as free radicals." []	201400	\N	\N	EFO	1	EFO	chemical entity	glutathione
CHEBI:37577	CHEBI:16856	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16856	"GSH Glutathione is a tripeptide. It contains an unusual peptide linkage between the amine group of cysteine and the carboxyl group of the glutamate side chain. It is an antioxidant that protects cells from toxins such as free radicals." []	201401	\N	\N	EFO	1	EFO	chemical compound	glutathione
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16856	"GSH Glutathione is a tripeptide. It contains an unusual peptide linkage between the amine group of cysteine and the carboxyl group of the glutamate side chain. It is an antioxidant that protects cells from toxins such as free radicals." []	554313	\N	\N	EFO	2	EFO	chemical entity	glutathione
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16856	"GSH Glutathione is a tripeptide. It contains an unusual peptide linkage between the amine group of cysteine and the carboxyl group of the glutamate side chain. It is an antioxidant that protects cells from toxins such as free radicals." []	1137023	\N	\N	EFO	3	EFO	material entity	glutathione
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16856	"GSH Glutathione is a tripeptide. It contains an unusual peptide linkage between the amine group of cysteine and the carboxyl group of the glutamate side chain. It is an antioxidant that protects cells from toxins such as free radicals." []	2020178	\N	\N	EFO	4	EFO	experimental factor	glutathione
CHEBI:16899	\N	\N	"The D-enantiomer of mannitol." []	CHEBI:16899	"The D-enantiomer of mannitol." []	62020	\N	\N	EFO	0	EFO	D-mannitol	D-mannitol
CHEBI:23888	CHEBI:16899	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:16899	"The D-enantiomer of mannitol." []	201402	\N	\N	EFO	1	EFO	drug	D-mannitol
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16899	"The D-enantiomer of mannitol." []	554314	\N	\N	EFO	2	EFO	chemical compound	D-mannitol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16899	"The D-enantiomer of mannitol." []	1137024	\N	\N	EFO	3	EFO	chemical entity	D-mannitol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16899	"The D-enantiomer of mannitol." []	2020179	\N	\N	EFO	4	EFO	material entity	D-mannitol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16899	"The D-enantiomer of mannitol." []	3175352	\N	\N	EFO	5	EFO	experimental factor	D-mannitol
CHEBI:16914	\N	\N	"" []	CHEBI:16914	"" []	62021	\N	\N	EFO	0	EFO	salicylic acid	salicylic acid
CHEBI:24621	CHEBI:16914	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:16914	"" []	201403	\N	\N	EFO	1	EFO	hormone	salicylic acid
EFO:0004416	CHEBI:16914	\N	"" []	CHEBI:16914	"" []	201404	\N	\N	EFO	1	EFO	acid	salicylic acid
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16914	"" []	554315	\N	\N	EFO	2	EFO	chemical compound	salicylic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16914	"" []	554316	\N	\N	EFO	2	EFO	chemical compound	salicylic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16914	"" []	1137025	\N	\N	EFO	3	EFO	chemical entity	salicylic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16914	"" []	2020180	\N	\N	EFO	4	EFO	material entity	salicylic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16914	"" []	3175353	\N	\N	EFO	5	EFO	experimental factor	salicylic acid
CHEBI:16919	\N	\N	"A glycine derivative that has formula C4H9N3O2." []	CHEBI:16919	"A glycine derivative that has formula C4H9N3O2." []	62022	\N	\N	EFO	0	EFO	creatine	creatine
EFO:0004727	CHEBI:16919	\N	"Any intermediate or product resulting from metabolism." []	CHEBI:16919	"A glycine derivative that has formula C4H9N3O2." []	201405	\N	\N	EFO	1	EFO	metabolite	creatine
CHEBI:37577	EFO:0004727	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16919	"A glycine derivative that has formula C4H9N3O2." []	554317	\N	\N	EFO	2	EFO	chemical compound	creatine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16919	"A glycine derivative that has formula C4H9N3O2." []	1137026	\N	\N	EFO	3	EFO	chemical entity	creatine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16919	"A glycine derivative that has formula C4H9N3O2." []	2020181	\N	\N	EFO	4	EFO	material entity	creatine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16919	"A glycine derivative that has formula C4H9N3O2." []	3175354	\N	\N	EFO	5	EFO	experimental factor	creatine
CHEBI:16979	\N	\N	"The sixth of the seven cervical vertebrae." []	CHEBI:16979	"The sixth of the seven cervical vertebrae." []	62023	\N	\N	EFO	0	EFO	benzene-1,2,4-triol	benzene-1,2,4-triol
CHEBI:37577	CHEBI:16979	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16979	"The sixth of the seven cervical vertebrae." []	201406	\N	\N	EFO	1	EFO	chemical compound	benzene-1,2,4-triol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16979	"The sixth of the seven cervical vertebrae." []	554318	\N	\N	EFO	2	EFO	chemical entity	benzene-1,2,4-triol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16979	"The sixth of the seven cervical vertebrae." []	1137027	\N	\N	EFO	3	EFO	material entity	benzene-1,2,4-triol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16979	"The sixth of the seven cervical vertebrae." []	2020182	\N	\N	EFO	4	EFO	experimental factor	benzene-1,2,4-triol
CHEBI:16990	\N	\N	"" []	CHEBI:16990	"" []	62024	\N	\N	EFO	0	EFO	bilirubin	bilirubin
CHEBI:37577	CHEBI:16990	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16990	"" []	201407	\N	\N	EFO	1	EFO	chemical compound	bilirubin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16990	"" []	554319	\N	\N	EFO	2	EFO	chemical entity	bilirubin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16990	"" []	1137028	\N	\N	EFO	3	EFO	material entity	bilirubin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16990	"" []	2020183	\N	\N	EFO	4	EFO	experimental factor	bilirubin
CHEBI:16991	\N	\N	"High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms." []	CHEBI:16991	"High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms." []	62025	\N	\N	EFO	0	EFO	DNA	DNA
CHEBI:37577	CHEBI:16991	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:16991	"High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms." []	201408	\N	\N	EFO	1	EFO	chemical compound	DNA
EFO:0004446	CHEBI:16991	\N	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	CHEBI:16991	"High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms." []	201409	\N	\N	EFO	1	EFO	biological macromolecule	DNA
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:16991	"High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms." []	554320	\N	\N	EFO	2	EFO	chemical entity	DNA
BFO:0000040	EFO:0004446	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16991	"High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms." []	554321	\N	\N	EFO	2	EFO	material entity	DNA
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:16991	"High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms." []	1137029	\N	\N	EFO	3	EFO	material entity	DNA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:16991	"High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms." []	2020184	\N	\N	EFO	4	EFO	experimental factor	DNA
CHEBI:17002	\N	\N	"Cholesterol esterified at the 3-hydroxy group." []	CHEBI:17002	"Cholesterol esterified at the 3-hydroxy group." []	62026	\N	\N	EFO	0	EFO	cholesterol ester	cholesterol ester
CHEBI:35341	CHEBI:17002	\N	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	CHEBI:17002	"Cholesterol esterified at the 3-hydroxy group." []	201410	\N	\N	EFO	1	EFO	steroid	cholesterol ester
CHEBI:37577	CHEBI:35341	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17002	"Cholesterol esterified at the 3-hydroxy group." []	554322	\N	\N	EFO	2	EFO	chemical compound	cholesterol ester
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17002	"Cholesterol esterified at the 3-hydroxy group." []	1137031	\N	\N	EFO	3	EFO	chemical entity	cholesterol ester
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17002	"Cholesterol esterified at the 3-hydroxy group." []	2020185	\N	\N	EFO	4	EFO	material entity	cholesterol ester
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17002	"Cholesterol esterified at the 3-hydroxy group." []	3175355	\N	\N	EFO	5	EFO	experimental factor	cholesterol ester
CHEBI:17026	\N	\N	"A steroid hormone that has formula C21H30O2." []	CHEBI:17026	"A steroid hormone that has formula C21H30O2." []	62027	\N	\N	EFO	0	EFO	progesterone	progesterone
CHEBI:24621	CHEBI:17026	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:17026	"A steroid hormone that has formula C21H30O2." []	201411	\N	\N	EFO	1	EFO	hormone	progesterone
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17026	"A steroid hormone that has formula C21H30O2." []	554323	\N	\N	EFO	2	EFO	chemical compound	progesterone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17026	"A steroid hormone that has formula C21H30O2." []	1137032	\N	\N	EFO	3	EFO	chemical entity	progesterone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17026	"A steroid hormone that has formula C21H30O2." []	2020186	\N	\N	EFO	4	EFO	material entity	progesterone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17026	"A steroid hormone that has formula C21H30O2." []	3175356	\N	\N	EFO	5	EFO	experimental factor	progesterone
CHEBI:17029	\N	\N	"An aminoglycan that has formula (C8H13NO5)n." []	CHEBI:17029	"An aminoglycan that has formula (C8H13NO5)n." []	62028	\N	\N	EFO	0	EFO	chitin	chitin
CHEBI:37577	CHEBI:17029	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17029	"An aminoglycan that has formula (C8H13NO5)n." []	201412	\N	\N	EFO	1	EFO	chemical compound	chitin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17029	"An aminoglycan that has formula (C8H13NO5)n." []	554324	\N	\N	EFO	2	EFO	chemical entity	chitin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17029	"An aminoglycan that has formula (C8H13NO5)n." []	1137033	\N	\N	EFO	3	EFO	material entity	chitin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17029	"An aminoglycan that has formula (C8H13NO5)n." []	2020187	\N	\N	EFO	4	EFO	experimental factor	chitin
CHEBI:17089	\N	\N	"" []	CHEBI:17089	"" []	62029	\N	\N	EFO	0	EFO	glycoprotein	glycoprotein
CHEBI:36080	CHEBI:17089	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	CHEBI:17089	"" []	201413	\N	\N	EFO	1	EFO	protein	glycoprotein
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17089	"" []	554325	\N	\N	EFO	2	EFO	chemical compound	glycoprotein
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17089	"" []	1137034	\N	\N	EFO	3	EFO	chemical entity	glycoprotein
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17089	"" []	2020188	\N	\N	EFO	4	EFO	material entity	glycoprotein
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17089	"" []	3175357	\N	\N	EFO	5	EFO	experimental factor	glycoprotein
CHEBI:17158	\N	\N	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	CHEBI:17158	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	62030	\N	\N	EFO	0	EFO	methyl glyoxal	methyl glyoxal
CHEBI:37577	CHEBI:17158	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17158	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	201414	\N	\N	EFO	1	EFO	chemical compound	methyl glyoxal
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17158	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	554326	\N	\N	EFO	2	EFO	chemical entity	methyl glyoxal
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17158	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	1137035	\N	\N	EFO	3	EFO	material entity	methyl glyoxal
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17158	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	2020189	\N	\N	EFO	4	EFO	experimental factor	methyl glyoxal
CHEBI:17160	\N	\N	"" []	CHEBI:17160	"" []	62031	\N	\N	EFO	0	EFO	17alpha-estradiol	17alpha-estradiol
CHEBI:37577	CHEBI:17160	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17160	"" []	201415	\N	\N	EFO	1	EFO	chemical compound	17alpha-estradiol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17160	"" []	554327	\N	\N	EFO	2	EFO	chemical entity	17alpha-estradiol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17160	"" []	1137036	\N	\N	EFO	3	EFO	material entity	17alpha-estradiol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17160	"" []	2020190	\N	\N	EFO	4	EFO	experimental factor	17alpha-estradiol
CHEBI:17203	\N	\N	"" []	CHEBI:17203	"" []	62032	\N	\N	EFO	0	EFO	L-proline	L-proline
CHEBI:37577	CHEBI:17203	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17203	"" []	201416	\N	\N	EFO	1	EFO	chemical compound	L-proline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17203	"" []	554328	\N	\N	EFO	2	EFO	chemical entity	L-proline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17203	"" []	1137037	\N	\N	EFO	3	EFO	material entity	L-proline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17203	"" []	2020191	\N	\N	EFO	4	EFO	experimental factor	L-proline
CHEBI:17221	\N	\N	"A monoterpene that has formula C10H16." []	CHEBI:17221	"A monoterpene that has formula C10H16." []	62033	\N	\N	EFO	0	EFO	myrcene	myrcene
CHEBI:37577	CHEBI:17221	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17221	"A monoterpene that has formula C10H16." []	201417	\N	\N	EFO	1	EFO	chemical compound	myrcene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17221	"A monoterpene that has formula C10H16." []	554329	\N	\N	EFO	2	EFO	chemical entity	myrcene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17221	"A monoterpene that has formula C10H16." []	1137038	\N	\N	EFO	3	EFO	material entity	myrcene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17221	"A monoterpene that has formula C10H16." []	2020192	\N	\N	EFO	4	EFO	experimental factor	myrcene
CHEBI:17230	\N	\N	"" []	CHEBI:17230	"" []	62034	\N	\N	EFO	0	EFO	homocysteine	homocysteine
CHEBI:33709	CHEBI:17230	\N	"" []	CHEBI:17230	"" []	201418	\N	\N	EFO	1	EFO	amino acid	homocysteine
EFO:0004416	CHEBI:33709	\N	"" []	CHEBI:17230	"" []	554330	\N	\N	EFO	2	EFO	acid	homocysteine
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17230	"" []	1137039	\N	\N	EFO	3	EFO	chemical compound	homocysteine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17230	"" []	2020193	\N	\N	EFO	4	EFO	chemical entity	homocysteine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17230	"" []	3175358	\N	\N	EFO	5	EFO	material entity	homocysteine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17230	"" []	4386516	\N	\N	EFO	6	EFO	experimental factor	homocysteine
CHEBI:17234	\N	\N	"" []	CHEBI:17234	"" []	62035	\N	\N	EFO	0	EFO	glucose	glucose
CHEBI:24431	CHEBI:17234	\N	"" []	CHEBI:17234	"" []	201419	\N	\N	EFO	1	EFO	chemical entity	glucose
CHEBI:37577	CHEBI:17234	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17234	"" []	201420	\N	\N	EFO	1	EFO	chemical compound	glucose
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17234	"" []	554331	\N	\N	EFO	2	EFO	chemical entity	glucose
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17234	"" []	1137040	\N	\N	EFO	3	EFO	material entity	glucose
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17234	"" []	2020194	\N	\N	EFO	4	EFO	experimental factor	glucose
CHEBI:17243	\N	\N	"" []	CHEBI:17243	"" []	62036	\N	\N	EFO	0	EFO	mono(2-ethylhexyl) phthalate	mono(2-ethylhexyl) phthalate
CHEBI:37577	CHEBI:17243	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17243	"" []	201421	\N	\N	EFO	1	EFO	chemical compound	mono(2-ethylhexyl) phthalate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17243	"" []	554332	\N	\N	EFO	2	EFO	chemical entity	mono(2-ethylhexyl) phthalate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17243	"" []	1137041	\N	\N	EFO	3	EFO	material entity	mono(2-ethylhexyl) phthalate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17243	"" []	2020195	\N	\N	EFO	4	EFO	experimental factor	mono(2-ethylhexyl) phthalate
CHEBI:17245	\N	\N	"A carbon oxide that has formula CO." []	CHEBI:17245	"A carbon oxide that has formula CO." []	62037	\N	\N	EFO	0	EFO	carbon monoxide	carbon monoxide
CHEBI:37577	CHEBI:17245	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17245	"A carbon oxide that has formula CO." []	201422	\N	\N	EFO	1	EFO	chemical compound	carbon monoxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17245	"A carbon oxide that has formula CO." []	554333	\N	\N	EFO	2	EFO	chemical entity	carbon monoxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17245	"A carbon oxide that has formula CO." []	1137042	\N	\N	EFO	3	EFO	material entity	carbon monoxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17245	"A carbon oxide that has formula CO." []	2020196	\N	\N	EFO	4	EFO	experimental factor	carbon monoxide
CHEBI:17303	\N	\N	"A morphinane alkaloid that has formula C17H19NO3." []	CHEBI:17303	"A morphinane alkaloid that has formula C17H19NO3." []	62038	\N	\N	EFO	0	EFO	morphine	morphine
CHEBI:23888	CHEBI:17303	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:17303	"A morphinane alkaloid that has formula C17H19NO3." []	201423	\N	\N	EFO	1	EFO	drug	morphine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17303	"A morphinane alkaloid that has formula C17H19NO3." []	554334	\N	\N	EFO	2	EFO	chemical compound	morphine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17303	"A morphinane alkaloid that has formula C17H19NO3." []	1137043	\N	\N	EFO	3	EFO	chemical entity	morphine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17303	"A morphinane alkaloid that has formula C17H19NO3." []	2020197	\N	\N	EFO	4	EFO	material entity	morphine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17303	"A morphinane alkaloid that has formula C17H19NO3." []	3175359	\N	\N	EFO	5	EFO	experimental factor	morphine
CHEBI:17327	\N	\N	"" []	CHEBI:17327	"" []	62039	\N	\N	EFO	0	EFO	phytol	phytol
CHEBI:37577	CHEBI:17327	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17327	"" []	201424	\N	\N	EFO	1	EFO	chemical compound	phytol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17327	"" []	554335	\N	\N	EFO	2	EFO	chemical entity	phytol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17327	"" []	1137044	\N	\N	EFO	3	EFO	material entity	phytol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17327	"" []	2020198	\N	\N	EFO	4	EFO	experimental factor	phytol
CHEBI:17347	\N	\N	"Unlike testosterone, which is a flat molecule, its 8-isomer has a folded conformation." []	CHEBI:17347	"Unlike testosterone, which is a flat molecule, its 8-isomer has a folded conformation." []	62040	\N	\N	EFO	0	EFO	testosterone	testosterone
CHEBI:24621	CHEBI:17347	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:17347	"Unlike testosterone, which is a flat molecule, its 8-isomer has a folded conformation." []	201425	\N	\N	EFO	1	EFO	hormone	testosterone
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17347	"Unlike testosterone, which is a flat molecule, its 8-isomer has a folded conformation." []	554336	\N	\N	EFO	2	EFO	chemical compound	testosterone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17347	"Unlike testosterone, which is a flat molecule, its 8-isomer has a folded conformation." []	1137045	\N	\N	EFO	3	EFO	chemical entity	testosterone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17347	"Unlike testosterone, which is a flat molecule, its 8-isomer has a folded conformation." []	2020199	\N	\N	EFO	4	EFO	material entity	testosterone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17347	"Unlike testosterone, which is a flat molecule, its 8-isomer has a folded conformation." []	3175360	\N	\N	EFO	5	EFO	experimental factor	testosterone
CHEBI:17351	\N	\N	"An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." []	CHEBI:17351	"An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." []	62041	\N	\N	EFO	0	EFO	linoleic acid	linoleic acid
CHEBI:35366	CHEBI:17351	\N	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	CHEBI:17351	"An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." []	201426	\N	\N	EFO	1	EFO	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	linoleic acid
CHEBI:18059	CHEBI:35366	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:17351	"An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." []	554337	\N	\N	EFO	2	EFO	lipid	linoleic acid
EFO:0004416	CHEBI:35366	\N	"" []	CHEBI:17351	"An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." []	554338	\N	\N	EFO	2	EFO	acid	linoleic acid
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17351	"An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." []	1137046	\N	\N	EFO	3	EFO	chemical compound	linoleic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17351	"An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." []	1137047	\N	\N	EFO	3	EFO	chemical compound	linoleic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17351	"An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." []	2020200	\N	\N	EFO	4	EFO	chemical entity	linoleic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17351	"An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." []	3175361	\N	\N	EFO	5	EFO	material entity	linoleic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17351	"An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry." []	4386517	\N	\N	EFO	6	EFO	experimental factor	linoleic acid
CHEBI:17356	\N	\N	"\\"An ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2.\\" []" []	CHEBI:17356	"\\"An ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2.\\" []" []	62042	\N	\N	EFO	0	EFO	2-acetylaminofluorene	2-acetylaminofluorene
CHEBI:37577	CHEBI:17356	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17356	"\\"An ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2.\\" []" []	201427	\N	\N	EFO	1	EFO	chemical compound	2-acetylaminofluorene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17356	"\\"An ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2.\\" []" []	554339	\N	\N	EFO	2	EFO	chemical entity	2-acetylaminofluorene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17356	"\\"An ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2.\\" []" []	1137048	\N	\N	EFO	3	EFO	material entity	2-acetylaminofluorene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17356	"\\"An ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2.\\" []" []	2020201	\N	\N	EFO	4	EFO	experimental factor	2-acetylaminofluorene
CHEBI:17362	\N	\N	"The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring." []	CHEBI:17362	"The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring." []	62043	\N	\N	EFO	0	EFO	quinoline	quinoline
CHEBI:37577	CHEBI:17362	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17362	"The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring." []	201428	\N	\N	EFO	1	EFO	chemical compound	quinoline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17362	"The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring." []	554340	\N	\N	EFO	2	EFO	chemical entity	quinoline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17362	"The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring." []	1137049	\N	\N	EFO	3	EFO	material entity	quinoline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17362	"The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring." []	2020202	\N	\N	EFO	4	EFO	experimental factor	quinoline
CHEBI:17489	\N	\N	"A 3',5'-cyclic purine nucleotide that has formula C10H12N5O6P." []	CHEBI:17489	"A 3',5'-cyclic purine nucleotide that has formula C10H12N5O6P." []	62044	\N	\N	EFO	0	EFO	3',5'-cyclic AMP	3',5'-cyclic AMP
CHEBI:24431	CHEBI:17489	\N	"" []	CHEBI:17489	"A 3',5'-cyclic purine nucleotide that has formula C10H12N5O6P." []	201429	\N	\N	EFO	1	EFO	chemical entity	3',5'-cyclic AMP
CHEBI:37577	CHEBI:17489	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17489	"A 3',5'-cyclic purine nucleotide that has formula C10H12N5O6P." []	201430	\N	\N	EFO	1	EFO	chemical compound	3',5'-cyclic AMP
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17489	"A 3',5'-cyclic purine nucleotide that has formula C10H12N5O6P." []	554341	\N	\N	EFO	2	EFO	chemical entity	3',5'-cyclic AMP
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17489	"A 3',5'-cyclic purine nucleotide that has formula C10H12N5O6P." []	1137050	\N	\N	EFO	3	EFO	material entity	3',5'-cyclic AMP
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17489	"A 3',5'-cyclic purine nucleotide that has formula C10H12N5O6P." []	2020203	\N	\N	EFO	4	EFO	experimental factor	3',5'-cyclic AMP
CHEBI:17561	\N	\N	"" []	CHEBI:17561	"" []	62045	\N	\N	EFO	0	EFO	L-cysteine	L-cysteine
CHEBI:33709	CHEBI:17561	\N	"" []	CHEBI:17561	"" []	201431	\N	\N	EFO	1	EFO	amino acid	L-cysteine
EFO:0004416	CHEBI:33709	\N	"" []	CHEBI:17561	"" []	554342	\N	\N	EFO	2	EFO	acid	L-cysteine
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17561	"" []	1137051	\N	\N	EFO	3	EFO	chemical compound	L-cysteine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17561	"" []	2020204	\N	\N	EFO	4	EFO	chemical entity	L-cysteine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17561	"" []	3175362	\N	\N	EFO	5	EFO	material entity	L-cysteine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17561	"" []	4386518	\N	\N	EFO	6	EFO	experimental factor	L-cysteine
CHEBI:17632	\N	\N	"A nitrogen oxoanion that has formula NO3." []	CHEBI:17632	"A nitrogen oxoanion that has formula NO3." []	62046	\N	\N	EFO	0	EFO	nitrate	nitrate
CHEBI:37577	CHEBI:17632	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17632	"A nitrogen oxoanion that has formula NO3." []	201432	\N	\N	EFO	1	EFO	chemical compound	nitrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17632	"A nitrogen oxoanion that has formula NO3." []	554343	\N	\N	EFO	2	EFO	chemical entity	nitrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17632	"A nitrogen oxoanion that has formula NO3." []	1137052	\N	\N	EFO	3	EFO	material entity	nitrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17632	"A nitrogen oxoanion that has formula NO3." []	2020205	\N	\N	EFO	4	EFO	experimental factor	nitrate
CHEBI:17636	\N	\N	"" []	CHEBI:17636	"" []	62047	\N	\N	EFO	0	EFO	sphingomyelin	sphingomyelin
CHEBI:17761	CHEBI:17636	\N	"" []	CHEBI:17636	"" []	201433	\N	\N	EFO	1	EFO	ceramide	sphingomyelin
CHEBI:16247	CHEBI:17761	\N	"" []	CHEBI:17636	"" []	554344	\N	\N	EFO	2	EFO	phospholipid	sphingomyelin
CHEBI:18059	CHEBI:16247	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:17636	"" []	1137053	\N	\N	EFO	3	EFO	lipid	sphingomyelin
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17636	"" []	2020206	\N	\N	EFO	4	EFO	chemical compound	sphingomyelin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17636	"" []	3175363	\N	\N	EFO	5	EFO	chemical entity	sphingomyelin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17636	"" []	4386519	\N	\N	EFO	6	EFO	material entity	sphingomyelin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17636	"" []	5407758	\N	\N	EFO	7	EFO	experimental factor	sphingomyelin
CHEBI:17650	\N	\N	"Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the \\"stress hormone\\" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses" []	CHEBI:17650	"Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the \\"stress hormone\\" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses" []	62048	\N	\N	EFO	0	EFO	cortisol	cortisol
CHEBI:24621	CHEBI:17650	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:17650	"Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the \\"stress hormone\\" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses" []	201434	\N	\N	EFO	1	EFO	hormone	cortisol
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17650	"Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the \\"stress hormone\\" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses" []	554345	\N	\N	EFO	2	EFO	chemical compound	cortisol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17650	"Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the \\"stress hormone\\" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses" []	1137054	\N	\N	EFO	3	EFO	chemical entity	cortisol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17650	"Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the \\"stress hormone\\" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses" []	2020207	\N	\N	EFO	4	EFO	material entity	cortisol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17650	"Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the \\"stress hormone\\" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses" []	3175364	\N	\N	EFO	5	EFO	experimental factor	cortisol
CHEBI:17698	\N	\N	"A dichloro-substituted acetamide containing a nitrobenzene ring, an amide bond and two alcohol functions." []	CHEBI:17698	"A dichloro-substituted acetamide containing a nitrobenzene ring, an amide bond and two alcohol functions." []	62049	\N	\N	EFO	0	EFO	chloramphenicol	chloramphenicol
CHEBI:37577	CHEBI:17698	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17698	"A dichloro-substituted acetamide containing a nitrobenzene ring, an amide bond and two alcohol functions." []	201435	\N	\N	EFO	1	EFO	chemical compound	chloramphenicol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17698	"A dichloro-substituted acetamide containing a nitrobenzene ring, an amide bond and two alcohol functions." []	554346	\N	\N	EFO	2	EFO	chemical entity	chloramphenicol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17698	"A dichloro-substituted acetamide containing a nitrobenzene ring, an amide bond and two alcohol functions." []	1137055	\N	\N	EFO	3	EFO	material entity	chloramphenicol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17698	"A dichloro-substituted acetamide containing a nitrobenzene ring, an amide bond and two alcohol functions." []	2020208	\N	\N	EFO	4	EFO	experimental factor	chloramphenicol
CHEBI:17741	\N	\N	"" []	CHEBI:17741	"" []	62050	\N	\N	EFO	0	EFO	N,N-dimethylformamide	N,N-dimethylformamide
CHEBI:37577	CHEBI:17741	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17741	"" []	201436	\N	\N	EFO	1	EFO	chemical compound	N,N-dimethylformamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17741	"" []	554347	\N	\N	EFO	2	EFO	chemical entity	N,N-dimethylformamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17741	"" []	1137056	\N	\N	EFO	3	EFO	material entity	N,N-dimethylformamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17741	"" []	2020209	\N	\N	EFO	4	EFO	experimental factor	N,N-dimethylformamide
CHEBI:17747	\N	\N	"The bis(2-ethylhexyl) ester of benzene-1,2-dicarboxylic acid." []	CHEBI:17747	"The bis(2-ethylhexyl) ester of benzene-1,2-dicarboxylic acid." []	62051	\N	\N	EFO	0	EFO	diethylhexyl phthalate	diethylhexyl phthalate
CHEBI:37577	CHEBI:17747	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17747	"The bis(2-ethylhexyl) ester of benzene-1,2-dicarboxylic acid." []	201437	\N	\N	EFO	1	EFO	chemical compound	diethylhexyl phthalate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17747	"The bis(2-ethylhexyl) ester of benzene-1,2-dicarboxylic acid." []	554348	\N	\N	EFO	2	EFO	chemical entity	diethylhexyl phthalate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17747	"The bis(2-ethylhexyl) ester of benzene-1,2-dicarboxylic acid." []	1137057	\N	\N	EFO	3	EFO	material entity	diethylhexyl phthalate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17747	"The bis(2-ethylhexyl) ester of benzene-1,2-dicarboxylic acid." []	2020210	\N	\N	EFO	4	EFO	experimental factor	diethylhexyl phthalate
CHEBI:17761	\N	\N	"" []	CHEBI:17761	"" []	62052	\N	\N	EFO	0	EFO	ceramide	ceramide
CHEBI:16247	CHEBI:17761	\N	"" []	CHEBI:17761	"" []	201438	\N	\N	EFO	1	EFO	phospholipid	ceramide
CHEBI:18059	CHEBI:16247	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:17761	"" []	554349	\N	\N	EFO	2	EFO	lipid	ceramide
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17761	"" []	1137058	\N	\N	EFO	3	EFO	chemical compound	ceramide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17761	"" []	2020211	\N	\N	EFO	4	EFO	chemical entity	ceramide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17761	"" []	3175365	\N	\N	EFO	5	EFO	material entity	ceramide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17761	"" []	4386520	\N	\N	EFO	6	EFO	experimental factor	ceramide
CHEBI:17790	\N	\N	"The simplest aliphatic alcohol, comprising a methyl and an alcohol group." []	CHEBI:17790	"The simplest aliphatic alcohol, comprising a methyl and an alcohol group." []	62053	\N	\N	EFO	0	EFO	methanol	methanol
CHEBI:37577	CHEBI:17790	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17790	"The simplest aliphatic alcohol, comprising a methyl and an alcohol group." []	201439	\N	\N	EFO	1	EFO	chemical compound	methanol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17790	"The simplest aliphatic alcohol, comprising a methyl and an alcohol group." []	554350	\N	\N	EFO	2	EFO	chemical entity	methanol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17790	"The simplest aliphatic alcohol, comprising a methyl and an alcohol group." []	1137059	\N	\N	EFO	3	EFO	material entity	methanol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17790	"The simplest aliphatic alcohol, comprising a methyl and an alcohol group." []	2020212	\N	\N	EFO	4	EFO	experimental factor	methanol
CHEBI:17823	\N	\N	"Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)" []	CHEBI:17823	"Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)" []	62054	\N	\N	EFO	0	EFO	calcitriol	calcitriol
CHEBI:37577	CHEBI:17823	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17823	"Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)" []	201440	\N	\N	EFO	1	EFO	chemical compound	calcitriol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17823	"Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)" []	554351	\N	\N	EFO	2	EFO	chemical entity	calcitriol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17823	"Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)" []	1137060	\N	\N	EFO	3	EFO	material entity	calcitriol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17823	"Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)" []	2020213	\N	\N	EFO	4	EFO	experimental factor	calcitriol
CHEBI:17833	\N	\N	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	CHEBI:17833	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	62055	\N	\N	EFO	0	EFO	gentamicin	gentamicin
CHEBI:37577	CHEBI:17833	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17833	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	201441	\N	\N	EFO	1	EFO	chemical compound	gentamicin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17833	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	554352	\N	\N	EFO	2	EFO	chemical entity	gentamicin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17833	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	1137061	\N	\N	EFO	3	EFO	material entity	gentamicin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17833	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	2020214	\N	\N	EFO	4	EFO	experimental factor	gentamicin
CHEBI:17855	\N	\N	"" []	CHEBI:17855	"" []	62056	\N	\N	EFO	0	EFO	triglyceride	triglyceride
CHEBI:18059	CHEBI:17855	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:17855	"" []	201442	\N	\N	EFO	1	EFO	lipid	triglyceride
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17855	"" []	554353	\N	\N	EFO	2	EFO	chemical compound	triglyceride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17855	"" []	1137062	\N	\N	EFO	3	EFO	chemical entity	triglyceride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17855	"" []	2020215	\N	\N	EFO	4	EFO	material entity	triglyceride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17855	"" []	3175366	\N	\N	EFO	5	EFO	experimental factor	triglyceride
CHEBI:17883	\N	\N	"A diatomic molecule containing covalently bonded hydrogen and chlorine atoms." []	CHEBI:17883	"A diatomic molecule containing covalently bonded hydrogen and chlorine atoms." []	62057	\N	\N	EFO	0	EFO	hydrochloric acid	hydrochloric acid
EFO:0004416	CHEBI:17883	\N	"" []	CHEBI:17883	"A diatomic molecule containing covalently bonded hydrogen and chlorine atoms." []	201443	\N	\N	EFO	1	EFO	acid	hydrochloric acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17883	"A diatomic molecule containing covalently bonded hydrogen and chlorine atoms." []	554354	\N	\N	EFO	2	EFO	chemical compound	hydrochloric acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17883	"A diatomic molecule containing covalently bonded hydrogen and chlorine atoms." []	1137063	\N	\N	EFO	3	EFO	chemical entity	hydrochloric acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17883	"A diatomic molecule containing covalently bonded hydrogen and chlorine atoms." []	2020216	\N	\N	EFO	4	EFO	material entity	hydrochloric acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17883	"A diatomic molecule containing covalently bonded hydrogen and chlorine atoms." []	3175367	\N	\N	EFO	5	EFO	experimental factor	hydrochloric acid
CHEBI:17925	\N	\N	"A D-glucopyranose that has formula C6H12O6." []	CHEBI:17925	"A D-glucopyranose that has formula C6H12O6." []	62058	\N	\N	EFO	0	EFO	alpha-D-glucose	alpha-D-glucose
CHEBI:37577	CHEBI:17925	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17925	"A D-glucopyranose that has formula C6H12O6." []	201444	\N	\N	EFO	1	EFO	chemical compound	alpha-D-glucose
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17925	"A D-glucopyranose that has formula C6H12O6." []	554355	\N	\N	EFO	2	EFO	chemical entity	alpha-D-glucose
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17925	"A D-glucopyranose that has formula C6H12O6." []	1137064	\N	\N	EFO	3	EFO	material entity	alpha-D-glucose
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17925	"A D-glucopyranose that has formula C6H12O6." []	2020217	\N	\N	EFO	4	EFO	experimental factor	alpha-D-glucose
CHEBI:17929	\N	\N	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	CHEBI:17929	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	62059	\N	\N	EFO	0	EFO	asymmetric dimethylarginine	asymmetric dimethylarginine
CHEBI:37577	CHEBI:17929	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17929	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	201445	\N	\N	EFO	1	EFO	chemical compound	asymmetric dimethylarginine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17929	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	554356	\N	\N	EFO	2	EFO	chemical entity	asymmetric dimethylarginine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17929	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	1137065	\N	\N	EFO	3	EFO	material entity	asymmetric dimethylarginine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17929	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	2020218	\N	\N	EFO	4	EFO	experimental factor	asymmetric dimethylarginine
CHEBI:17939	\N	\N	"An aminonucleoside antibiotic, derived from the Streptomyces alboniger bacterium, that causes premature chain termination during translation taking place in the ribosome." []	CHEBI:17939	"An aminonucleoside antibiotic, derived from the Streptomyces alboniger bacterium, that causes premature chain termination during translation taking place in the ribosome." []	62060	\N	\N	EFO	0	EFO	puromycin	puromycin
CHEBI:37577	CHEBI:17939	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17939	"An aminonucleoside antibiotic, derived from the Streptomyces alboniger bacterium, that causes premature chain termination during translation taking place in the ribosome." []	201446	\N	\N	EFO	1	EFO	chemical compound	puromycin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17939	"An aminonucleoside antibiotic, derived from the Streptomyces alboniger bacterium, that causes premature chain termination during translation taking place in the ribosome." []	554357	\N	\N	EFO	2	EFO	chemical entity	puromycin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17939	"An aminonucleoside antibiotic, derived from the Streptomyces alboniger bacterium, that causes premature chain termination during translation taking place in the ribosome." []	1137066	\N	\N	EFO	3	EFO	material entity	puromycin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17939	"An aminonucleoside antibiotic, derived from the Streptomyces alboniger bacterium, that causes premature chain termination during translation taking place in the ribosome." []	2020219	\N	\N	EFO	4	EFO	experimental factor	puromycin
CHEBI:17968	\N	\N	"" []	CHEBI:17968	"" []	62061	\N	\N	EFO	0	EFO	butyrate	butyrate
EFO:0004415	CHEBI:17968	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:17968	"" []	201447	\N	\N	EFO	1	EFO	ionic salt	butyrate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17968	"" []	554358	\N	\N	EFO	2	EFO	chemical compound	butyrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17968	"" []	1137067	\N	\N	EFO	3	EFO	chemical entity	butyrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17968	"" []	2020220	\N	\N	EFO	4	EFO	material entity	butyrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17968	"" []	3175368	\N	\N	EFO	5	EFO	experimental factor	butyrate
CHEBI:17992	\N	\N	"A glycosyl glycoside that has formula C12H22O11." []	CHEBI:17992	"A glycosyl glycoside that has formula C12H22O11." []	62062	\N	\N	EFO	0	EFO	sucrose	sucrose
CHEBI:37577	CHEBI:17992	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:17992	"A glycosyl glycoside that has formula C12H22O11." []	201448	\N	\N	EFO	1	EFO	chemical compound	sucrose
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:17992	"A glycosyl glycoside that has formula C12H22O11." []	554359	\N	\N	EFO	2	EFO	chemical entity	sucrose
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:17992	"A glycosyl glycoside that has formula C12H22O11." []	1137068	\N	\N	EFO	3	EFO	material entity	sucrose
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:17992	"A glycosyl glycoside that has formula C12H22O11." []	2020221	\N	\N	EFO	4	EFO	experimental factor	sucrose
CHEBI:18050	\N	\N	"" []	CHEBI:18050	"" []	62063	\N	\N	EFO	0	EFO	L-glutamine	L-glutamine
CHEBI:37577	CHEBI:18050	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18050	"" []	201449	\N	\N	EFO	1	EFO	chemical compound	L-glutamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18050	"" []	554360	\N	\N	EFO	2	EFO	chemical entity	L-glutamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18050	"" []	1137069	\N	\N	EFO	3	EFO	material entity	L-glutamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18050	"" []	2020222	\N	\N	EFO	4	EFO	experimental factor	L-glutamine
CHEBI:18053	\N	\N	"The determination of the amount of complement C4 present in a sample." []	CHEBI:18053	"The determination of the amount of complement C4 present in a sample." []	62064	\N	\N	EFO	0	EFO	1-aminocyclopropane-1-carboxylic acid	1-aminocyclopropane-1-carboxylic acid
EFO:0004416	CHEBI:18053	\N	"" []	CHEBI:18053	"The determination of the amount of complement C4 present in a sample." []	201450	\N	\N	EFO	1	EFO	acid	1-aminocyclopropane-1-carboxylic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18053	"The determination of the amount of complement C4 present in a sample." []	554361	\N	\N	EFO	2	EFO	chemical compound	1-aminocyclopropane-1-carboxylic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18053	"The determination of the amount of complement C4 present in a sample." []	1137070	\N	\N	EFO	3	EFO	chemical entity	1-aminocyclopropane-1-carboxylic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18053	"The determination of the amount of complement C4 present in a sample." []	2020223	\N	\N	EFO	4	EFO	material entity	1-aminocyclopropane-1-carboxylic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18053	"The determination of the amount of complement C4 present in a sample." []	3175369	\N	\N	EFO	5	EFO	experimental factor	1-aminocyclopropane-1-carboxylic acid
CHEBI:18058	\N	\N	"" []	CHEBI:18058	"" []	62065	\N	\N	EFO	0	EFO	oxamic acid	oxamic acid
EFO:0004416	CHEBI:18058	\N	"" []	CHEBI:18058	"" []	201451	\N	\N	EFO	1	EFO	acid	oxamic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18058	"" []	554362	\N	\N	EFO	2	EFO	chemical compound	oxamic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18058	"" []	1137071	\N	\N	EFO	3	EFO	chemical entity	oxamic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18058	"" []	2020224	\N	\N	EFO	4	EFO	material entity	oxamic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18058	"" []	3175370	\N	\N	EFO	5	EFO	experimental factor	oxamic acid
CHEBI:18059	\N	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:18059	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	62066	\N	\N	EFO	0	EFO	lipid	lipid
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18059	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	201452	\N	\N	EFO	1	EFO	chemical compound	lipid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18059	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	554363	\N	\N	EFO	2	EFO	chemical entity	lipid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18059	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	1137072	\N	\N	EFO	3	EFO	material entity	lipid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18059	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	2020225	\N	\N	EFO	4	EFO	experimental factor	lipid
CHEBI:18145	\N	\N	"An alpha-tocopherol that has formula C29H50O2." []	CHEBI:18145	"An alpha-tocopherol that has formula C29H50O2." []	62067	\N	\N	EFO	0	EFO	(+)-alpha-tocopherol	(+)-alpha-tocopherol
CHEBI:23888	CHEBI:18145	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:18145	"An alpha-tocopherol that has formula C29H50O2." []	201453	\N	\N	EFO	1	EFO	drug	(+)-alpha-tocopherol
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18145	"An alpha-tocopherol that has formula C29H50O2." []	554364	\N	\N	EFO	2	EFO	chemical compound	(+)-alpha-tocopherol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18145	"An alpha-tocopherol that has formula C29H50O2." []	1137073	\N	\N	EFO	3	EFO	chemical entity	(+)-alpha-tocopherol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18145	"An alpha-tocopherol that has formula C29H50O2." []	2020226	\N	\N	EFO	4	EFO	material entity	(+)-alpha-tocopherol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18145	"An alpha-tocopherol that has formula C29H50O2." []	3175371	\N	\N	EFO	5	EFO	experimental factor	(+)-alpha-tocopherol
CHEBI:18153	\N	\N	"An alkene that has formula C2H4." []	CHEBI:18153	"An alkene that has formula C2H4." []	62068	\N	\N	EFO	0	EFO	ethene	ethene
CHEBI:24621	CHEBI:18153	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:18153	"An alkene that has formula C2H4." []	201454	\N	\N	EFO	1	EFO	hormone	ethene
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18153	"An alkene that has formula C2H4." []	554365	\N	\N	EFO	2	EFO	chemical compound	ethene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18153	"An alkene that has formula C2H4." []	1137074	\N	\N	EFO	3	EFO	chemical entity	ethene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18153	"An alkene that has formula C2H4." []	2020227	\N	\N	EFO	4	EFO	material entity	ethene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18153	"An alkene that has formula C2H4." []	3175372	\N	\N	EFO	5	EFO	experimental factor	ethene
CHEBI:18154	\N	\N	"" []	CHEBI:18154	"" []	62069	\N	\N	EFO	0	EFO	polysaccharide	polysaccharide
CHEBI:16646	CHEBI:18154	\N	"" []	CHEBI:18154	"" []	201455	\N	\N	EFO	1	EFO	carbohydrate	polysaccharide
CHEBI:37577	CHEBI:16646	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18154	"" []	554366	\N	\N	EFO	2	EFO	chemical compound	polysaccharide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18154	"" []	1137075	\N	\N	EFO	3	EFO	chemical entity	polysaccharide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18154	"" []	2020228	\N	\N	EFO	4	EFO	material entity	polysaccharide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18154	"" []	3175373	\N	\N	EFO	5	EFO	experimental factor	polysaccharide
CHEBI:18185	\N	\N	"A tocopherol that has formula C28H48O2." []	CHEBI:18185	"A tocopherol that has formula C28H48O2." []	62070	\N	\N	EFO	0	EFO	gamma-tocopherol	gamma-tocopherol
CHEBI:37577	CHEBI:18185	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18185	"A tocopherol that has formula C28H48O2." []	201456	\N	\N	EFO	1	EFO	chemical compound	gamma-tocopherol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18185	"A tocopherol that has formula C28H48O2." []	554367	\N	\N	EFO	2	EFO	chemical entity	gamma-tocopherol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18185	"A tocopherol that has formula C28H48O2." []	1137076	\N	\N	EFO	3	EFO	material entity	gamma-tocopherol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18185	"A tocopherol that has formula C28H48O2." []	2020229	\N	\N	EFO	4	EFO	experimental factor	gamma-tocopherol
CHEBI:18186	\N	\N	"" []	CHEBI:18186	"" []	62071	\N	\N	EFO	0	EFO	tyrosine	tyrosine
CHEBI:33709	CHEBI:18186	\N	"" []	CHEBI:18186	"" []	201457	\N	\N	EFO	1	EFO	amino acid	tyrosine
EFO:0004416	CHEBI:33709	\N	"" []	CHEBI:18186	"" []	554368	\N	\N	EFO	2	EFO	acid	tyrosine
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18186	"" []	1137077	\N	\N	EFO	3	EFO	chemical compound	tyrosine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18186	"" []	2020230	\N	\N	EFO	4	EFO	chemical entity	tyrosine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18186	"" []	3175374	\N	\N	EFO	5	EFO	material entity	tyrosine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18186	"" []	4386521	\N	\N	EFO	6	EFO	experimental factor	tyrosine
CHEBI:18208	\N	\N	"" []	CHEBI:18208	"" []	62072	\N	\N	EFO	0	EFO	benzylpenicillin	benzylpenicillin
CHEBI:37577	CHEBI:18208	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18208	"" []	201458	\N	\N	EFO	1	EFO	chemical compound	benzylpenicillin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18208	"" []	554369	\N	\N	EFO	2	EFO	chemical entity	benzylpenicillin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18208	"" []	1137078	\N	\N	EFO	3	EFO	material entity	benzylpenicillin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18208	"" []	2020231	\N	\N	EFO	4	EFO	experimental factor	benzylpenicillin
CHEBI:18212	\N	\N	"A selenium oxoanion that has formula O3Se." []	CHEBI:18212	"A selenium oxoanion that has formula O3Se." []	62073	\N	\N	EFO	0	EFO	selenite(2-)	selenite(2-)
CHEBI:37577	CHEBI:18212	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18212	"A selenium oxoanion that has formula O3Se." []	201459	\N	\N	EFO	1	EFO	chemical compound	selenite(2-)
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18212	"A selenium oxoanion that has formula O3Se." []	554370	\N	\N	EFO	2	EFO	chemical entity	selenite(2-)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18212	"A selenium oxoanion that has formula O3Se." []	1137079	\N	\N	EFO	3	EFO	material entity	selenite(2-)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18212	"A selenium oxoanion that has formula O3Se." []	2020232	\N	\N	EFO	4	EFO	experimental factor	selenite(2-)
CHEBI:18220	\N	\N	"An isoflavone that has formula C15H10O2." []	CHEBI:18220	"An isoflavone that has formula C15H10O2." []	62074	\N	\N	EFO	0	EFO	isoflavone	isoflavone
CHEBI:37577	CHEBI:18220	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18220	"An isoflavone that has formula C15H10O2." []	201460	\N	\N	EFO	1	EFO	chemical compound	isoflavone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18220	"An isoflavone that has formula C15H10O2." []	554371	\N	\N	EFO	2	EFO	chemical entity	isoflavone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18220	"An isoflavone that has formula C15H10O2." []	1137080	\N	\N	EFO	3	EFO	material entity	isoflavone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18220	"An isoflavone that has formula C15H10O2." []	2020233	\N	\N	EFO	4	EFO	experimental factor	isoflavone
CHEBI:18222	\N	\N	"An aldopentose, found in the embryos of most edible plants and used in medicine to test for malabsorption by administration in water to the patient." []	CHEBI:18222	"An aldopentose, found in the embryos of most edible plants and used in medicine to test for malabsorption by administration in water to the patient." []	62075	\N	\N	EFO	0	EFO	xylose	xylose
CHEBI:37577	CHEBI:18222	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18222	"An aldopentose, found in the embryos of most edible plants and used in medicine to test for malabsorption by administration in water to the patient." []	201461	\N	\N	EFO	1	EFO	chemical compound	xylose
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18222	"An aldopentose, found in the embryos of most edible plants and used in medicine to test for malabsorption by administration in water to the patient." []	554372	\N	\N	EFO	2	EFO	chemical entity	xylose
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18222	"An aldopentose, found in the embryos of most edible plants and used in medicine to test for malabsorption by administration in water to the patient." []	1137081	\N	\N	EFO	3	EFO	material entity	xylose
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18222	"An aldopentose, found in the embryos of most edible plants and used in medicine to test for malabsorption by administration in water to the patient." []	2020234	\N	\N	EFO	4	EFO	experimental factor	xylose
CHEBI:18243	\N	\N	"" []	CHEBI:18243	"" []	62076	\N	\N	EFO	0	EFO	dopamine	dopamine
CHEBI:23888	CHEBI:18243	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:18243	"" []	201462	\N	\N	EFO	1	EFO	drug	dopamine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18243	"" []	554373	\N	\N	EFO	2	EFO	chemical compound	dopamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18243	"" []	1137082	\N	\N	EFO	3	EFO	chemical entity	dopamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18243	"" []	2020235	\N	\N	EFO	4	EFO	material entity	dopamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18243	"" []	3175375	\N	\N	EFO	5	EFO	experimental factor	dopamine
CHEBI:18248	\N	\N	"An iron group element that has formula Fe." []	CHEBI:18248	"An iron group element that has formula Fe." []	62077	\N	\N	EFO	0	EFO	iron	iron
CHEBI:33250	CHEBI:18248	\N	"" []	CHEBI:18248	"An iron group element that has formula Fe." []	201463	\N	\N	EFO	1	EFO	element	iron
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:18248	"An iron group element that has formula Fe." []	554374	\N	\N	EFO	2	EFO	chemical entity	iron
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18248	"An iron group element that has formula Fe." []	1137083	\N	\N	EFO	3	EFO	material entity	iron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18248	"An iron group element that has formula Fe." []	2020236	\N	\N	EFO	4	EFO	experimental factor	iron
CHEBI:18258	\N	\N	"" []	CHEBI:18258	"" []	62078	\N	\N	EFO	0	EFO	3,3',5-triiodo-L-thyronine	3,3',5-triiodo-L-thyronine
CHEBI:24621	CHEBI:18258	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:18258	"" []	201464	\N	\N	EFO	1	EFO	hormone	3,3',5-triiodo-L-thyronine
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18258	"" []	554375	\N	\N	EFO	2	EFO	chemical compound	3,3',5-triiodo-L-thyronine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18258	"" []	1137084	\N	\N	EFO	3	EFO	chemical entity	3,3',5-triiodo-L-thyronine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18258	"" []	2020237	\N	\N	EFO	4	EFO	material entity	3,3',5-triiodo-L-thyronine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18258	"" []	3175376	\N	\N	EFO	5	EFO	experimental factor	3,3',5-triiodo-L-thyronine
CHEBI:18292	\N	\N	"An oxo monocarboxylic acid that has formula C12H18O3." []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	62079	\N	\N	EFO	0	EFO	jasmonic acid	jasmonic acid
CHEBI:26158	CHEBI:18292	\N	"" []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	201465	\N	\N	EFO	1	EFO	phytohormone	jasmonic acid
EFO:0004416	CHEBI:18292	\N	"" []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	201466	\N	\N	EFO	1	EFO	acid	jasmonic acid
EFO:0001824	CHEBI:26158	\N	"" []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	554376	\N	\N	EFO	2	EFO	hormone role	jasmonic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	554377	\N	\N	EFO	2	EFO	chemical compound	jasmonic acid
CHEBI:24432	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	1137085	\N	\N	EFO	3	EFO	biological role	jasmonic acid
CHEBI:51086	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	1137086	\N	\N	EFO	3	EFO	chemical role	jasmonic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	1137087	\N	\N	EFO	3	EFO	chemical entity	jasmonic acid
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	2020238	\N	\N	EFO	4	EFO	role	jasmonic acid
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	2020239	\N	\N	EFO	4	EFO	role	jasmonic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	2020240	\N	\N	EFO	4	EFO	material entity	jasmonic acid
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	3175377	\N	\N	EFO	5	EFO	material property	jasmonic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	3175378	\N	\N	EFO	5	EFO	experimental factor	jasmonic acid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18292	"An oxo monocarboxylic acid that has formula C12H18O3." []	4386522	\N	\N	EFO	6	EFO	experimental factor	jasmonic acid
CHEBI:18320	\N	\N	"The threo-diastereomer of 1,4-dimercaptobutane-2,3-diol." []	CHEBI:18320	"The threo-diastereomer of 1,4-dimercaptobutane-2,3-diol." []	62080	\N	\N	EFO	0	EFO	1,4-dithiothreitol	1,4-dithiothreitol
CHEBI:37577	CHEBI:18320	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18320	"The threo-diastereomer of 1,4-dimercaptobutane-2,3-diol." []	201467	\N	\N	EFO	1	EFO	chemical compound	1,4-dithiothreitol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18320	"The threo-diastereomer of 1,4-dimercaptobutane-2,3-diol." []	554378	\N	\N	EFO	2	EFO	chemical entity	1,4-dithiothreitol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18320	"The threo-diastereomer of 1,4-dimercaptobutane-2,3-diol." []	1137088	\N	\N	EFO	3	EFO	material entity	1,4-dithiothreitol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18320	"The threo-diastereomer of 1,4-dimercaptobutane-2,3-diol." []	2020241	\N	\N	EFO	4	EFO	experimental factor	1,4-dithiothreitol
CHEBI:18406	\N	\N	"" []	CHEBI:18406	"" []	62081	\N	\N	EFO	0	EFO	5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide	5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
CHEBI:37577	CHEBI:18406	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18406	"" []	201468	\N	\N	EFO	1	EFO	chemical compound	5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18406	"" []	554379	\N	\N	EFO	2	EFO	chemical entity	5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18406	"" []	1137089	\N	\N	EFO	3	EFO	material entity	5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18406	"" []	2020242	\N	\N	EFO	4	EFO	experimental factor	5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
CHEBI:18422	\N	\N	"A sulfur oxide that has formula O2S." []	CHEBI:18422	"A sulfur oxide that has formula O2S." []	62082	\N	\N	EFO	0	EFO	sulphur dioxide	sulphur dioxide
CHEBI:37577	CHEBI:18422	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18422	"A sulfur oxide that has formula O2S." []	201469	\N	\N	EFO	1	EFO	chemical compound	sulphur dioxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18422	"A sulfur oxide that has formula O2S." []	554380	\N	\N	EFO	2	EFO	chemical entity	sulphur dioxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18422	"A sulfur oxide that has formula O2S." []	1137090	\N	\N	EFO	3	EFO	material entity	sulphur dioxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18422	"A sulfur oxide that has formula O2S." []	2020243	\N	\N	EFO	4	EFO	experimental factor	sulphur dioxide
CHEBI:185922	\N	\N	"The 5-fluoro derivative of uridine." []	CHEBI:185922	"The 5-fluoro derivative of uridine." []	62083	\N	\N	EFO	0	EFO	5-fluorouridine	5-fluorouridine
CHEBI:37577	CHEBI:185922	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:185922	"The 5-fluoro derivative of uridine." []	201470	\N	\N	EFO	1	EFO	chemical compound	5-fluorouridine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:185922	"The 5-fluoro derivative of uridine." []	554381	\N	\N	EFO	2	EFO	chemical entity	5-fluorouridine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:185922	"The 5-fluoro derivative of uridine." []	1137091	\N	\N	EFO	3	EFO	material entity	5-fluorouridine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:185922	"The 5-fluoro derivative of uridine." []	2020244	\N	\N	EFO	4	EFO	experimental factor	5-fluorouridine
CHEBI:18723	\N	\N	"A pyrrolidine alkaloid that has formula C10H14N2." []	CHEBI:18723	"A pyrrolidine alkaloid that has formula C10H14N2." []	62084	\N	\N	EFO	0	EFO	nicotine	nicotine
CHEBI:37577	CHEBI:18723	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:18723	"A pyrrolidine alkaloid that has formula C10H14N2." []	201471	\N	\N	EFO	1	EFO	chemical compound	nicotine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:18723	"A pyrrolidine alkaloid that has formula C10H14N2." []	554382	\N	\N	EFO	2	EFO	chemical entity	nicotine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:18723	"A pyrrolidine alkaloid that has formula C10H14N2." []	1137092	\N	\N	EFO	3	EFO	material entity	nicotine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:18723	"A pyrrolidine alkaloid that has formula C10H14N2." []	2020245	\N	\N	EFO	4	EFO	experimental factor	nicotine
CHEBI:20000	\N	\N	"" []	CHEBI:20000	"" []	62085	\N	\N	EFO	0	EFO	3-dehydroteasterone	3-dehydroteasterone
CHEBI:37577	CHEBI:20000	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:20000	"" []	201472	\N	\N	EFO	1	EFO	chemical compound	3-dehydroteasterone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:20000	"" []	554383	\N	\N	EFO	2	EFO	chemical entity	3-dehydroteasterone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:20000	"" []	1137093	\N	\N	EFO	3	EFO	material entity	3-dehydroteasterone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:20000	"" []	2020246	\N	\N	EFO	4	EFO	experimental factor	3-dehydroteasterone
CHEBI:2038	\N	\N	"A N-glycosyl-1,3,5-triazine that has formula C8H12N4O5." []	CHEBI:2038	"A N-glycosyl-1,3,5-triazine that has formula C8H12N4O5." []	62086	\N	\N	EFO	0	EFO	5-azacytidine	5-azacytidine
CHEBI:23888	CHEBI:2038	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:2038	"A N-glycosyl-1,3,5-triazine that has formula C8H12N4O5." []	201473	\N	\N	EFO	1	EFO	drug	5-azacytidine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2038	"A N-glycosyl-1,3,5-triazine that has formula C8H12N4O5." []	554384	\N	\N	EFO	2	EFO	chemical compound	5-azacytidine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2038	"A N-glycosyl-1,3,5-triazine that has formula C8H12N4O5." []	1137094	\N	\N	EFO	3	EFO	chemical entity	5-azacytidine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2038	"A N-glycosyl-1,3,5-triazine that has formula C8H12N4O5." []	2020247	\N	\N	EFO	4	EFO	material entity	5-azacytidine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2038	"A N-glycosyl-1,3,5-triazine that has formula C8H12N4O5." []	3175379	\N	\N	EFO	5	EFO	experimental factor	5-azacytidine
CHEBI:20710	\N	\N	"" []	CHEBI:20710	"" []	62087	\N	\N	EFO	0	EFO	3-dehydro-6-deoxoteasterone	3-dehydro-6-deoxoteasterone
CHEBI:37577	CHEBI:20710	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:20710	"" []	201474	\N	\N	EFO	1	EFO	chemical compound	3-dehydro-6-deoxoteasterone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:20710	"" []	554385	\N	\N	EFO	2	EFO	chemical entity	3-dehydro-6-deoxoteasterone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:20710	"" []	1137095	\N	\N	EFO	3	EFO	material entity	3-dehydro-6-deoxoteasterone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:20710	"" []	2020248	\N	\N	EFO	4	EFO	experimental factor	3-dehydro-6-deoxoteasterone
CHEBI:20712	\N	\N	"" []	CHEBI:20712	"" []	62088	\N	\N	EFO	0	EFO	6-deoxocastasterone	6-deoxocastasterone
CHEBI:37577	CHEBI:20712	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:20712	"" []	201475	\N	\N	EFO	1	EFO	chemical compound	6-deoxocastasterone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:20712	"" []	554386	\N	\N	EFO	2	EFO	chemical entity	6-deoxocastasterone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:20712	"" []	1137096	\N	\N	EFO	3	EFO	material entity	6-deoxocastasterone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:20712	"" []	2020249	\N	\N	EFO	4	EFO	experimental factor	6-deoxocastasterone
CHEBI:20714	\N	\N	"" []	CHEBI:20714	"" []	62089	\N	\N	EFO	0	EFO	6-deoxycathasterone	6-deoxycathasterone
CHEBI:37577	CHEBI:20714	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:20714	"" []	201476	\N	\N	EFO	1	EFO	chemical compound	6-deoxycathasterone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:20714	"" []	554387	\N	\N	EFO	2	EFO	chemical entity	6-deoxycathasterone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:20714	"" []	1137097	\N	\N	EFO	3	EFO	material entity	6-deoxycathasterone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:20714	"" []	2020250	\N	\N	EFO	4	EFO	experimental factor	6-deoxycathasterone
CHEBI:20717	\N	\N	"" []	CHEBI:20717	"" []	62090	\N	\N	EFO	0	EFO	6-deoxotyphasterol	6-deoxotyphasterol
CHEBI:37577	CHEBI:20717	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:20717	"" []	201477	\N	\N	EFO	1	EFO	chemical compound	6-deoxotyphasterol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:20717	"" []	554388	\N	\N	EFO	2	EFO	chemical entity	6-deoxotyphasterol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:20717	"" []	1137098	\N	\N	EFO	3	EFO	material entity	6-deoxotyphasterol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:20717	"" []	2020251	\N	\N	EFO	4	EFO	experimental factor	6-deoxotyphasterol
CHEBI:21759	\N	\N	"" []	CHEBI:21759	"" []	62091	\N	\N	EFO	0	EFO	N-methyl-N'-nitro-N-nitrosoguanidine	N-methyl-N'-nitro-N-nitrosoguanidine
CHEBI:37577	CHEBI:21759	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:21759	"" []	201478	\N	\N	EFO	1	EFO	chemical compound	N-methyl-N'-nitro-N-nitrosoguanidine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:21759	"" []	554389	\N	\N	EFO	2	EFO	chemical entity	N-methyl-N'-nitro-N-nitrosoguanidine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:21759	"" []	1137099	\N	\N	EFO	3	EFO	material entity	N-methyl-N'-nitro-N-nitrosoguanidine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:21759	"" []	2020252	\N	\N	EFO	4	EFO	experimental factor	N-methyl-N'-nitro-N-nitrosoguanidine
CHEBI:22152	\N	\N	"An apo carotenoid sesquiterpenoid that has formula C15H20O4." []	CHEBI:22152	"An apo carotenoid sesquiterpenoid that has formula C15H20O4." []	62092	\N	\N	EFO	0	EFO	abscisic acid	abscisic acid
EFO:0004416	CHEBI:22152	\N	"" []	CHEBI:22152	"An apo carotenoid sesquiterpenoid that has formula C15H20O4." []	201479	\N	\N	EFO	1	EFO	acid	abscisic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:22152	"An apo carotenoid sesquiterpenoid that has formula C15H20O4." []	554390	\N	\N	EFO	2	EFO	chemical compound	abscisic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:22152	"An apo carotenoid sesquiterpenoid that has formula C15H20O4." []	1137100	\N	\N	EFO	3	EFO	chemical entity	abscisic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:22152	"An apo carotenoid sesquiterpenoid that has formula C15H20O4." []	2020253	\N	\N	EFO	4	EFO	material entity	abscisic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22152	"An apo carotenoid sesquiterpenoid that has formula C15H20O4." []	3175380	\N	\N	EFO	5	EFO	experimental factor	abscisic acid
CHEBI:22333	\N	\N	"Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases." []	CHEBI:22333	"Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases." []	62093	\N	\N	EFO	0	EFO	alkylating agent role	alkylating agent role
CHEBI:51086	CHEBI:22333	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:22333	"Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases." []	201480	\N	\N	EFO	1	EFO	chemical role	alkylating agent role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:22333	"Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases." []	554391	\N	\N	EFO	2	EFO	role	alkylating agent role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:22333	"Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases." []	1137101	\N	\N	EFO	3	EFO	material property	alkylating agent role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22333	"Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases." []	2020254	\N	\N	EFO	4	EFO	experimental factor	alkylating agent role
CHEBI:22470	\N	\N	"" []	CHEBI:22470	"" []	62094	\N	\N	EFO	0	EFO	alpha-tocopherol	alpha-tocopherol
CHEBI:37577	CHEBI:22470	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:22470	"" []	201481	\N	\N	EFO	1	EFO	chemical compound	alpha-tocopherol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:22470	"" []	554392	\N	\N	EFO	2	EFO	chemical entity	alpha-tocopherol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:22470	"" []	1137102	\N	\N	EFO	3	EFO	material entity	alpha-tocopherol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22470	"" []	2020255	\N	\N	EFO	4	EFO	experimental factor	alpha-tocopherol
CHEBI:22584	\N	\N	"A nine-membered bis-lactone having methyl substituents at the 2- and 6-positions, an n-hexyl substituent at the 8-position, an acyloxy substituent at the 7-position and an aroylamido substituent at the 3-position. It is produced by Streptomyces bacteria and has found commercial use as a fish poison." []	CHEBI:22584	"A nine-membered bis-lactone having methyl substituents at the 2- and 6-positions, an n-hexyl substituent at the 8-position, an acyloxy substituent at the 7-position and an aroylamido substituent at the 3-position. It is produced by Streptomyces bacteria and has found commercial use as a fish poison." []	62095	\N	\N	EFO	0	EFO	antimycin A	antimycin A
CHEBI:37577	CHEBI:22584	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:22584	"A nine-membered bis-lactone having methyl substituents at the 2- and 6-positions, an n-hexyl substituent at the 8-position, an acyloxy substituent at the 7-position and an aroylamido substituent at the 3-position. It is produced by Streptomyces bacteria and has found commercial use as a fish poison." []	201482	\N	\N	EFO	1	EFO	chemical compound	antimycin A
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:22584	"A nine-membered bis-lactone having methyl substituents at the 2- and 6-positions, an n-hexyl substituent at the 8-position, an acyloxy substituent at the 7-position and an aroylamido substituent at the 3-position. It is produced by Streptomyces bacteria and has found commercial use as a fish poison." []	554393	\N	\N	EFO	2	EFO	chemical entity	antimycin A
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:22584	"A nine-membered bis-lactone having methyl substituents at the 2- and 6-positions, an n-hexyl substituent at the 8-position, an acyloxy substituent at the 7-position and an aroylamido substituent at the 3-position. It is produced by Streptomyces bacteria and has found commercial use as a fish poison." []	1137103	\N	\N	EFO	3	EFO	material entity	antimycin A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22584	"A nine-membered bis-lactone having methyl substituents at the 2- and 6-positions, an n-hexyl substituent at the 8-position, an acyloxy substituent at the 7-position and an aroylamido substituent at the 3-position. It is produced by Streptomyces bacteria and has found commercial use as a fish poison." []	2020256	\N	\N	EFO	4	EFO	experimental factor	antimycin A
CHEBI:22586	\N	\N	"A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides." []	CHEBI:22586	"A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides." []	62096	\N	\N	EFO	0	EFO	antioxidant	antioxidant
CHEBI:51086	CHEBI:22586	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:22586	"A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides." []	201483	\N	\N	EFO	1	EFO	chemical role	antioxidant
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:22586	"A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides." []	554394	\N	\N	EFO	2	EFO	role	antioxidant
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:22586	"A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides." []	1137104	\N	\N	EFO	3	EFO	material property	antioxidant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22586	"A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides." []	2020257	\N	\N	EFO	4	EFO	experimental factor	antioxidant
CHEBI:22587	\N	\N	"" []	CHEBI:22587	"" []	62097	\N	\N	EFO	0	EFO	antiviral	antiviral
EFO:0001899	CHEBI:22587	\N	"" []	CHEBI:22587	"" []	201484	\N	\N	EFO	1	EFO	drug role	antiviral
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:22587	"" []	554395	\N	\N	EFO	2	EFO	chemical role	antiviral
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:22587	"" []	1137105	\N	\N	EFO	3	EFO	role	antiviral
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:22587	"" []	2020258	\N	\N	EFO	4	EFO	material property	antiviral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22587	"" []	3175381	\N	\N	EFO	5	EFO	experimental factor	antiviral
CHEBI:22676	\N	\N	"Any of a group of compounds, both naturally occurring and synthetic, that regulate aspects of plant growth (from Greek alphaupsilonxialphanuomega, \\"to grow\\")." []	CHEBI:22676	"Any of a group of compounds, both naturally occurring and synthetic, that regulate aspects of plant growth (from Greek alphaupsilonxialphanuomega, \\"to grow\\")." []	62098	\N	\N	EFO	0	EFO	auxin role	auxin role
CHEBI:24432	CHEBI:22676	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:22676	"Any of a group of compounds, both naturally occurring and synthetic, that regulate aspects of plant growth (from Greek alphaupsilonxialphanuomega, \\"to grow\\")." []	201485	\N	\N	EFO	1	EFO	biological role	auxin role
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:22676	"Any of a group of compounds, both naturally occurring and synthetic, that regulate aspects of plant growth (from Greek alphaupsilonxialphanuomega, \\"to grow\\")." []	554396	\N	\N	EFO	2	EFO	role	auxin role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:22676	"Any of a group of compounds, both naturally occurring and synthetic, that regulate aspects of plant growth (from Greek alphaupsilonxialphanuomega, \\"to grow\\")." []	1137106	\N	\N	EFO	3	EFO	material property	auxin role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22676	"Any of a group of compounds, both naturally occurring and synthetic, that regulate aspects of plant growth (from Greek alphaupsilonxialphanuomega, \\"to grow\\")." []	2020259	\N	\N	EFO	4	EFO	experimental factor	auxin role
CHEBI:22707	\N	\N	"" []	CHEBI:22707	"" []	62099	\N	\N	EFO	0	EFO	benzenetriols	benzenetriols
CHEBI:37577	CHEBI:22707	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:22707	"" []	201486	\N	\N	EFO	1	EFO	chemical compound	benzenetriols
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:22707	"" []	554397	\N	\N	EFO	2	EFO	chemical entity	benzenetriols
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:22707	"" []	1137107	\N	\N	EFO	3	EFO	material entity	benzenetriols
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22707	"" []	2020260	\N	\N	EFO	4	EFO	experimental factor	benzenetriols
CHEBI:22720	\N	\N	"" []	CHEBI:22720	"" []	62100	\N	\N	EFO	0	EFO	benzodiazepine	benzodiazepine
CHEBI:23888	CHEBI:22720	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:22720	"" []	201487	\N	\N	EFO	1	EFO	drug	benzodiazepine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:22720	"" []	554398	\N	\N	EFO	2	EFO	chemical compound	benzodiazepine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:22720	"" []	1137108	\N	\N	EFO	3	EFO	chemical entity	benzodiazepine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:22720	"" []	2020261	\N	\N	EFO	4	EFO	material entity	benzodiazepine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22720	"" []	3175382	\N	\N	EFO	5	EFO	experimental factor	benzodiazepine
CHEBI:22907	\N	\N	"" []	CHEBI:22907	"" []	62101	\N	\N	EFO	0	EFO	bleomycin	bleomycin
CHEBI:24431	CHEBI:22907	\N	"" []	CHEBI:22907	"" []	201488	\N	\N	EFO	1	EFO	chemical entity	bleomycin
CHEBI:37577	CHEBI:22907	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:22907	"" []	201489	\N	\N	EFO	1	EFO	chemical compound	bleomycin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:22907	"" []	554399	\N	\N	EFO	2	EFO	chemical entity	bleomycin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:22907	"" []	1137109	\N	\N	EFO	3	EFO	material entity	bleomycin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22907	"" []	2020262	\N	\N	EFO	4	EFO	experimental factor	bleomycin
CHEBI:22917	\N	\N	"An insecticide compound naturally occurring in plants." []	CHEBI:22917	"An insecticide compound naturally occurring in plants." []	62102	\N	\N	EFO	0	EFO	phytogenic insecticide	phytogenic insecticide
CHEBI:24852	CHEBI:22917	\N	"A substance used to destroy pests of the class Insecta." []	CHEBI:22917	"An insecticide compound naturally occurring in plants." []	201490	\N	\N	EFO	1	EFO	insecticide	phytogenic insecticide
CHEBI:24432	CHEBI:24852	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:22917	"An insecticide compound naturally occurring in plants." []	554400	\N	\N	EFO	2	EFO	biological role	phytogenic insecticide
CHEBI:51086	CHEBI:24852	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:22917	"An insecticide compound naturally occurring in plants." []	554401	\N	\N	EFO	2	EFO	chemical role	phytogenic insecticide
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:22917	"An insecticide compound naturally occurring in plants." []	1137110	\N	\N	EFO	3	EFO	role	phytogenic insecticide
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:22917	"An insecticide compound naturally occurring in plants." []	1137111	\N	\N	EFO	3	EFO	role	phytogenic insecticide
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:22917	"An insecticide compound naturally occurring in plants." []	2020263	\N	\N	EFO	4	EFO	material property	phytogenic insecticide
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22917	"An insecticide compound naturally occurring in plants." []	3175383	\N	\N	EFO	5	EFO	experimental factor	phytogenic insecticide
CHEBI:22977	\N	\N	"A zinc group element atom that has formula Cd." []	CHEBI:22977	"A zinc group element atom that has formula Cd." []	62103	\N	\N	EFO	0	EFO	cadmium	cadmium
CHEBI:24431	CHEBI:22977	\N	"" []	CHEBI:22977	"A zinc group element atom that has formula Cd." []	201491	\N	\N	EFO	1	EFO	chemical entity	cadmium
CHEBI:33250	CHEBI:22977	\N	"" []	CHEBI:22977	"A zinc group element atom that has formula Cd." []	201492	\N	\N	EFO	1	EFO	element	cadmium
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:22977	"A zinc group element atom that has formula Cd." []	554402	\N	\N	EFO	2	EFO	chemical entity	cadmium
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:22977	"A zinc group element atom that has formula Cd." []	1137112	\N	\N	EFO	3	EFO	material entity	cadmium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22977	"A zinc group element atom that has formula Cd." []	2020264	\N	\N	EFO	4	EFO	experimental factor	cadmium
CHEBI:22978	\N	\N	"" []	CHEBI:22978	"" []	62104	\N	\N	EFO	0	EFO	cadmium compounds	cadmium compounds
CHEBI:37577	CHEBI:22978	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:22978	"" []	201493	\N	\N	EFO	1	EFO	chemical compound	cadmium compounds
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:22978	"" []	554403	\N	\N	EFO	2	EFO	chemical entity	cadmium compounds
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:22978	"" []	1137113	\N	\N	EFO	3	EFO	material entity	cadmium compounds
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22978	"" []	2020265	\N	\N	EFO	4	EFO	experimental factor	cadmium compounds
CHEBI:22984	\N	\N	"" []	CHEBI:22984	"" []	62105	\N	\N	EFO	0	EFO	calcium	calcium
CHEBI:33250	CHEBI:22984	\N	"" []	CHEBI:22984	"" []	201494	\N	\N	EFO	1	EFO	element	calcium
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:22984	"" []	554404	\N	\N	EFO	2	EFO	chemical entity	calcium
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:22984	"" []	1137114	\N	\N	EFO	3	EFO	material entity	calcium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22984	"" []	2020266	\N	\N	EFO	4	EFO	experimental factor	calcium
CHEBI:22986	\N	\N	"" []	CHEBI:22986	"" []	62106	\N	\N	EFO	0	EFO	calcium ionophore	calcium ionophore
CHEBI:24431	CHEBI:22986	\N	"" []	CHEBI:22986	"" []	201495	\N	\N	EFO	1	EFO	chemical entity	calcium ionophore
CHEBI:37577	CHEBI:22986	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:22986	"" []	201496	\N	\N	EFO	1	EFO	chemical compound	calcium ionophore
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:22986	"" []	554405	\N	\N	EFO	2	EFO	chemical entity	calcium ionophore
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:22986	"" []	1137115	\N	\N	EFO	3	EFO	material entity	calcium ionophore
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:22986	"" []	2020267	\N	\N	EFO	4	EFO	experimental factor	calcium ionophore
CHEBI:23051	\N	\N	"" []	CHEBI:23051	"" []	62107	\N	\N	EFO	0	EFO	castasterone	castasterone
CHEBI:37577	CHEBI:23051	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:23051	"" []	201497	\N	\N	EFO	1	EFO	chemical compound	castasterone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:23051	"" []	554406	\N	\N	EFO	2	EFO	chemical entity	castasterone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:23051	"" []	1137116	\N	\N	EFO	3	EFO	material entity	castasterone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:23051	"" []	2020268	\N	\N	EFO	4	EFO	experimental factor	castasterone
CHEBI:23057	\N	\N	"" []	CHEBI:23057	"" []	62108	\N	\N	EFO	0	EFO	cathasterone	cathasterone
CHEBI:37577	CHEBI:23057	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:23057	"" []	201498	\N	\N	EFO	1	EFO	chemical compound	cathasterone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:23057	"" []	554407	\N	\N	EFO	2	EFO	chemical entity	cathasterone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:23057	"" []	1137117	\N	\N	EFO	3	EFO	material entity	cathasterone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:23057	"" []	2020269	\N	\N	EFO	4	EFO	experimental factor	cathasterone
CHEBI:23354	\N	\N	"" []	CHEBI:23354	"" []	62109	\N	\N	EFO	0	EFO	coenzyme	coenzyme
CHEBI:24432	CHEBI:23354	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:23354	"" []	201499	\N	\N	EFO	1	EFO	biological role	coenzyme
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:23354	"" []	554408	\N	\N	EFO	2	EFO	role	coenzyme
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:23354	"" []	1137118	\N	\N	EFO	3	EFO	material property	coenzyme
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:23354	"" []	2020270	\N	\N	EFO	4	EFO	experimental factor	coenzyme
CHEBI:23359	\N	\N	"A carbotricyclic compound that has formula C22H25NO6." []	CHEBI:23359	"A carbotricyclic compound that has formula C22H25NO6." []	62110	\N	\N	EFO	0	EFO	colchicine	colchicine
CHEBI:23888	CHEBI:23359	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:23359	"A carbotricyclic compound that has formula C22H25NO6." []	201500	\N	\N	EFO	1	EFO	drug	colchicine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:23359	"A carbotricyclic compound that has formula C22H25NO6." []	554409	\N	\N	EFO	2	EFO	chemical compound	colchicine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:23359	"A carbotricyclic compound that has formula C22H25NO6." []	1137119	\N	\N	EFO	3	EFO	chemical entity	colchicine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:23359	"A carbotricyclic compound that has formula C22H25NO6." []	2020271	\N	\N	EFO	4	EFO	material entity	colchicine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:23359	"A carbotricyclic compound that has formula C22H25NO6." []	3175384	\N	\N	EFO	5	EFO	experimental factor	colchicine
CHEBI:23366	\N	\N	"" []	CHEBI:23366	"" []	62111	\N	\N	EFO	0	EFO	compatible osmolytes role	compatible osmolytes role
CHEBI:51086	CHEBI:23366	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:23366	"" []	201501	\N	\N	EFO	1	EFO	chemical role	compatible osmolytes role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:23366	"" []	554410	\N	\N	EFO	2	EFO	role	compatible osmolytes role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:23366	"" []	1137120	\N	\N	EFO	3	EFO	material property	compatible osmolytes role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:23366	"" []	2020272	\N	\N	EFO	4	EFO	experimental factor	compatible osmolytes role
CHEBI:2341	\N	\N	"" []	CHEBI:2341	"" []	62112	\N	\N	EFO	0	EFO	AACOCF3	AACOCF3
CHEBI:37577	CHEBI:2341	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2341	"" []	201502	\N	\N	EFO	1	EFO	chemical compound	AACOCF3
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2341	"" []	554411	\N	\N	EFO	2	EFO	chemical entity	AACOCF3
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2341	"" []	1137121	\N	\N	EFO	3	EFO	material entity	AACOCF3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2341	"" []	2020273	\N	\N	EFO	4	EFO	experimental factor	AACOCF3
CHEBI:23414	\N	\N	"" []	CHEBI:23414	"" []	62113	\N	\N	EFO	0	EFO	copper(2+) sulfate	copper(2+) sulfate
CHEBI:24431	CHEBI:23414	\N	"" []	CHEBI:23414	"" []	201503	\N	\N	EFO	1	EFO	chemical entity	copper(2+) sulfate
EFO:0004415	CHEBI:23414	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:23414	"" []	201504	\N	\N	EFO	1	EFO	ionic salt	copper(2+) sulfate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:23414	"" []	554412	\N	\N	EFO	2	EFO	chemical compound	copper(2+) sulfate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:23414	"" []	1137122	\N	\N	EFO	3	EFO	chemical entity	copper(2+) sulfate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:23414	"" []	2020274	\N	\N	EFO	4	EFO	material entity	copper(2+) sulfate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:23414	"" []	3175385	\N	\N	EFO	5	EFO	experimental factor	copper(2+) sulfate
CHEBI:23527	\N	\N	"" []	CHEBI:23527	"" []	62114	\N	\N	EFO	0	EFO	cytochalasin B	cytochalasin B
CHEBI:37577	CHEBI:23527	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:23527	"" []	201505	\N	\N	EFO	1	EFO	chemical compound	cytochalasin B
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:23527	"" []	554413	\N	\N	EFO	2	EFO	chemical entity	cytochalasin B
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:23527	"" []	1137123	\N	\N	EFO	3	EFO	material entity	cytochalasin B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:23527	"" []	2020275	\N	\N	EFO	4	EFO	experimental factor	cytochalasin B
CHEBI:23530	\N	\N	"" []	CHEBI:23530	"" []	62115	\N	\N	EFO	0	EFO	cytokinins	cytokinins
CHEBI:26158	CHEBI:23530	\N	"" []	CHEBI:23530	"" []	201506	\N	\N	EFO	1	EFO	phytohormone	cytokinins
EFO:0001824	CHEBI:26158	\N	"" []	CHEBI:23530	"" []	554414	\N	\N	EFO	2	EFO	hormone role	cytokinins
CHEBI:24432	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:23530	"" []	1137124	\N	\N	EFO	3	EFO	biological role	cytokinins
CHEBI:51086	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:23530	"" []	1137125	\N	\N	EFO	3	EFO	chemical role	cytokinins
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:23530	"" []	2020276	\N	\N	EFO	4	EFO	role	cytokinins
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:23530	"" []	2020277	\N	\N	EFO	4	EFO	role	cytokinins
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:23530	"" []	3175386	\N	\N	EFO	5	EFO	material property	cytokinins
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:23530	"" []	4386523	\N	\N	EFO	6	EFO	experimental factor	cytokinins
CHEBI:2360	\N	\N	"" []	CHEBI:2360	"" []	62116	\N	\N	EFO	0	EFO	abacavir	abacavir
CHEBI:23888	CHEBI:2360	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:2360	"" []	201507	\N	\N	EFO	1	EFO	drug	abacavir
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2360	"" []	554415	\N	\N	EFO	2	EFO	chemical compound	abacavir
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2360	"" []	1137126	\N	\N	EFO	3	EFO	chemical entity	abacavir
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2360	"" []	2020278	\N	\N	EFO	4	EFO	material entity	abacavir
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2360	"" []	3175387	\N	\N	EFO	5	EFO	experimental factor	abacavir
CHEBI:2365	\N	\N	"The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold." []	CHEBI:2365	"The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold." []	62117	\N	\N	EFO	0	EFO	(+)-abscisic acid	(+)-abscisic acid
CHEBI:24621	CHEBI:2365	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:2365	"The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold." []	201508	\N	\N	EFO	1	EFO	hormone	(+)-abscisic acid
EFO:0004416	CHEBI:2365	\N	"" []	CHEBI:2365	"The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold." []	201509	\N	\N	EFO	1	EFO	acid	(+)-abscisic acid
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2365	"The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold." []	554416	\N	\N	EFO	2	EFO	chemical compound	(+)-abscisic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2365	"The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold." []	554417	\N	\N	EFO	2	EFO	chemical compound	(+)-abscisic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2365	"The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold." []	1137127	\N	\N	EFO	3	EFO	chemical entity	(+)-abscisic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2365	"The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold." []	2020279	\N	\N	EFO	4	EFO	material entity	(+)-abscisic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2365	"The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold." []	3175388	\N	\N	EFO	5	EFO	experimental factor	(+)-abscisic acid
CHEBI:2376	\N	\N	"" []	CHEBI:2376	"" []	62118	\N	\N	EFO	0	EFO	acarbose	acarbose
CHEBI:37577	CHEBI:2376	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2376	"" []	201510	\N	\N	EFO	1	EFO	chemical compound	acarbose
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2376	"" []	554418	\N	\N	EFO	2	EFO	chemical entity	acarbose
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2376	"" []	1137128	\N	\N	EFO	3	EFO	material entity	acarbose
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2376	"" []	2020280	\N	\N	EFO	4	EFO	experimental factor	acarbose
CHEBI:23888	\N	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:23888	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	62119	\N	\N	EFO	0	EFO	drug	drug
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:23888	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	201511	\N	\N	EFO	1	EFO	chemical compound	drug
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:23888	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	554419	\N	\N	EFO	2	EFO	chemical entity	drug
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:23888	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	1137129	\N	\N	EFO	3	EFO	material entity	drug
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:23888	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	2020281	\N	\N	EFO	4	EFO	experimental factor	drug
CHEBI:23924	\N	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:23924	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	62120	\N	\N	EFO	0	EFO	enzyme inhibitor	enzyme inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:23924	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	201512	\N	\N	EFO	1	EFO	biological role	enzyme inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:23924	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	201513	\N	\N	EFO	1	EFO	inhibitor role	enzyme inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:23924	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	554420	\N	\N	EFO	2	EFO	role	enzyme inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:23924	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	554421	\N	\N	EFO	2	EFO	chemical role	enzyme inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:23924	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	2020283	\N	\N	EFO	4	EFO	material property	enzyme inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:23924	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	1137131	\N	\N	EFO	3	EFO	role	enzyme inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:23924	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	2999163	\N	\N	EFO	5	EFO	experimental factor	enzyme inhibitor
CHEBI:23965	\N	\N	"A steroid hormone that has formula C18H24O2." []	CHEBI:23965	"A steroid hormone that has formula C18H24O2." []	62121	\N	\N	EFO	0	EFO	estradiol	estradiol
CHEBI:24621	CHEBI:23965	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:23965	"A steroid hormone that has formula C18H24O2." []	201514	\N	\N	EFO	1	EFO	hormone	estradiol
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:23965	"A steroid hormone that has formula C18H24O2." []	554422	\N	\N	EFO	2	EFO	chemical compound	estradiol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:23965	"A steroid hormone that has formula C18H24O2." []	1137132	\N	\N	EFO	3	EFO	chemical entity	estradiol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:23965	"A steroid hormone that has formula C18H24O2." []	2020284	\N	\N	EFO	4	EFO	material entity	estradiol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:23965	"A steroid hormone that has formula C18H24O2." []	3175389	\N	\N	EFO	5	EFO	experimental factor	estradiol
CHEBI:23995	\N	\N	"A urea compound having ethyl and nitroso substituents in the 1-position." []	CHEBI:23995	"A urea compound having ethyl and nitroso substituents in the 1-position." []	62122	\N	\N	EFO	0	EFO	ethyl nitrosourea	ethyl nitrosourea
CHEBI:37577	CHEBI:23995	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:23995	"A urea compound having ethyl and nitroso substituents in the 1-position." []	201515	\N	\N	EFO	1	EFO	chemical compound	ethyl nitrosourea
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:23995	"A urea compound having ethyl and nitroso substituents in the 1-position." []	554423	\N	\N	EFO	2	EFO	chemical entity	ethyl nitrosourea
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:23995	"A urea compound having ethyl and nitroso substituents in the 1-position." []	1137133	\N	\N	EFO	3	EFO	material entity	ethyl nitrosourea
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:23995	"A urea compound having ethyl and nitroso substituents in the 1-position." []	2020285	\N	\N	EFO	4	EFO	experimental factor	ethyl nitrosourea
CHEBI:24127	\N	\N	"A substance used to destroy fungal pests." []	CHEBI:24127	"A substance used to destroy fungal pests." []	62123	\N	\N	EFO	0	EFO	fungicide	fungicide
CHEBI:24432	CHEBI:24127	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:24127	"A substance used to destroy fungal pests." []	201516	\N	\N	EFO	1	EFO	biological role	fungicide
CHEBI:51086	CHEBI:24127	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:24127	"A substance used to destroy fungal pests." []	201517	\N	\N	EFO	1	EFO	chemical role	fungicide
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:24127	"A substance used to destroy fungal pests." []	554424	\N	\N	EFO	2	EFO	role	fungicide
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:24127	"A substance used to destroy fungal pests." []	554425	\N	\N	EFO	2	EFO	role	fungicide
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:24127	"A substance used to destroy fungal pests." []	1137134	\N	\N	EFO	3	EFO	material property	fungicide
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:24127	"A substance used to destroy fungal pests." []	2020286	\N	\N	EFO	4	EFO	experimental factor	fungicide
CHEBI:24431	\N	\N	"" []	CHEBI:24431	"" []	62124	\N	\N	EFO	0	EFO	chemical entity	chemical entity
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:24431	"" []	201518	\N	\N	EFO	1	EFO	material entity	chemical entity
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:24431	"" []	554426	\N	\N	EFO	2	EFO	experimental factor	chemical entity
CHEBI:24432	\N	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:24432	"A role played by the molecular entity or part thereof within a biological context." []	62125	\N	\N	EFO	0	EFO	biological role	biological role
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:24432	"A role played by the molecular entity or part thereof within a biological context." []	201519	\N	\N	EFO	1	EFO	role	biological role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:24432	"A role played by the molecular entity or part thereof within a biological context." []	554427	\N	\N	EFO	2	EFO	material property	biological role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:24432	"A role played by the molecular entity or part thereof within a biological context." []	1137135	\N	\N	EFO	3	EFO	experimental factor	biological role
CHEBI:24527	\N	\N	"A substance used to destroy plant pests." []	CHEBI:24527	"A substance used to destroy plant pests." []	62126	\N	\N	EFO	0	EFO	herbicide	herbicide
CHEBI:37577	CHEBI:24527	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:24527	"A substance used to destroy plant pests." []	201520	\N	\N	EFO	1	EFO	chemical compound	herbicide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:24527	"A substance used to destroy plant pests." []	554428	\N	\N	EFO	2	EFO	chemical entity	herbicide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:24527	"A substance used to destroy plant pests." []	1137136	\N	\N	EFO	3	EFO	material entity	herbicide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:24527	"A substance used to destroy plant pests." []	2020287	\N	\N	EFO	4	EFO	experimental factor	herbicide
CHEBI:2453	\N	\N	"A 2-aminopurine that has formula C8H11N5O3." []	CHEBI:2453	"A 2-aminopurine that has formula C8H11N5O3." []	62127	\N	\N	EFO	0	EFO	acyclovir	acyclovir
CHEBI:23888	CHEBI:2453	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:2453	"A 2-aminopurine that has formula C8H11N5O3." []	201521	\N	\N	EFO	1	EFO	drug	acyclovir
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2453	"A 2-aminopurine that has formula C8H11N5O3." []	554429	\N	\N	EFO	2	EFO	chemical compound	acyclovir
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2453	"A 2-aminopurine that has formula C8H11N5O3." []	1137137	\N	\N	EFO	3	EFO	chemical entity	acyclovir
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2453	"A 2-aminopurine that has formula C8H11N5O3." []	2020288	\N	\N	EFO	4	EFO	material entity	acyclovir
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2453	"A 2-aminopurine that has formula C8H11N5O3." []	3175390	\N	\N	EFO	5	EFO	experimental factor	acyclovir
CHEBI:24532	\N	\N	"" []	CHEBI:24532	"" []	62128	\N	\N	EFO	0	EFO	organic heterocyclic compound	organic heterocyclic compound
CHEBI:37577	CHEBI:24532	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:24532	"" []	201522	\N	\N	EFO	1	EFO	chemical compound	organic heterocyclic compound
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:24532	"" []	554430	\N	\N	EFO	2	EFO	chemical entity	organic heterocyclic compound
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:24532	"" []	1137138	\N	\N	EFO	3	EFO	material entity	organic heterocyclic compound
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:24532	"" []	2020289	\N	\N	EFO	4	EFO	experimental factor	organic heterocyclic compound
CHEBI:24621	\N	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:24621	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	62129	\N	\N	EFO	0	EFO	hormone	hormone
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:24621	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	201523	\N	\N	EFO	1	EFO	chemical compound	hormone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:24621	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	554431	\N	\N	EFO	2	EFO	chemical entity	hormone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:24621	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	1137139	\N	\N	EFO	3	EFO	material entity	hormone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:24621	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	2020290	\N	\N	EFO	4	EFO	experimental factor	hormone
CHEBI:24757	\N	\N	"A weak, unstable acid with formula HOCl, which is the active form of chlorine in water." []	CHEBI:24757	"A weak, unstable acid with formula HOCl, which is the active form of chlorine in water." []	62130	\N	\N	EFO	0	EFO	hypochlorous acid	hypochlorous acid
EFO:0004416	CHEBI:24757	\N	"" []	CHEBI:24757	"A weak, unstable acid with formula HOCl, which is the active form of chlorine in water." []	201524	\N	\N	EFO	1	EFO	acid	hypochlorous acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:24757	"A weak, unstable acid with formula HOCl, which is the active form of chlorine in water." []	554432	\N	\N	EFO	2	EFO	chemical compound	hypochlorous acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:24757	"A weak, unstable acid with formula HOCl, which is the active form of chlorine in water." []	1137140	\N	\N	EFO	3	EFO	chemical entity	hypochlorous acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:24757	"A weak, unstable acid with formula HOCl, which is the active form of chlorine in water." []	2020291	\N	\N	EFO	4	EFO	material entity	hypochlorous acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:24757	"A weak, unstable acid with formula HOCl, which is the active form of chlorine in water." []	3175391	\N	\N	EFO	5	EFO	experimental factor	hypochlorous acid
CHEBI:24852	\N	\N	"A substance used to destroy pests of the class Insecta." []	CHEBI:24852	"A substance used to destroy pests of the class Insecta." []	62131	\N	\N	EFO	0	EFO	insecticide	insecticide
CHEBI:24432	CHEBI:24852	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:24852	"A substance used to destroy pests of the class Insecta." []	201525	\N	\N	EFO	1	EFO	biological role	insecticide
CHEBI:51086	CHEBI:24852	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:24852	"A substance used to destroy pests of the class Insecta." []	201526	\N	\N	EFO	1	EFO	chemical role	insecticide
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:24852	"A substance used to destroy pests of the class Insecta." []	554433	\N	\N	EFO	2	EFO	role	insecticide
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:24852	"A substance used to destroy pests of the class Insecta." []	554434	\N	\N	EFO	2	EFO	role	insecticide
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:24852	"A substance used to destroy pests of the class Insecta." []	1137141	\N	\N	EFO	3	EFO	material property	insecticide
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:24852	"A substance used to destroy pests of the class Insecta." []	2020292	\N	\N	EFO	4	EFO	experimental factor	insecticide
CHEBI:24867	\N	\N	"" []	CHEBI:24867	"" []	62132	\N	\N	EFO	0	EFO	monoatomic ion	monoatomic ion
CHEBI:37577	CHEBI:24867	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:24867	"" []	201527	\N	\N	EFO	1	EFO	chemical compound	monoatomic ion
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:24867	"" []	554435	\N	\N	EFO	2	EFO	chemical entity	monoatomic ion
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:24867	"" []	1137142	\N	\N	EFO	3	EFO	material entity	monoatomic ion
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:24867	"" []	2020293	\N	\N	EFO	4	EFO	experimental factor	monoatomic ion
CHEBI:24937	\N	\N	"" []	CHEBI:24937	"" []	62133	\N	\N	EFO	0	EFO	jasmonic acids	jasmonic acids
CHEBI:26158	CHEBI:24937	\N	"" []	CHEBI:24937	"" []	201528	\N	\N	EFO	1	EFO	phytohormone	jasmonic acids
EFO:0001824	CHEBI:26158	\N	"" []	CHEBI:24937	"" []	554436	\N	\N	EFO	2	EFO	hormone role	jasmonic acids
CHEBI:24432	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:24937	"" []	1137143	\N	\N	EFO	3	EFO	biological role	jasmonic acids
CHEBI:51086	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:24937	"" []	1137144	\N	\N	EFO	3	EFO	chemical role	jasmonic acids
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:24937	"" []	2020294	\N	\N	EFO	4	EFO	role	jasmonic acids
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:24937	"" []	2020295	\N	\N	EFO	4	EFO	role	jasmonic acids
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:24937	"" []	3175392	\N	\N	EFO	5	EFO	material property	jasmonic acids
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:24937	"" []	4386524	\N	\N	EFO	6	EFO	experimental factor	jasmonic acids
CHEBI:25016	\N	\N	"A carbon group element that has formula Pb." []	CHEBI:25016	"A carbon group element that has formula Pb." []	62134	\N	\N	EFO	0	EFO	lead	lead
CHEBI:33250	CHEBI:25016	\N	"" []	CHEBI:25016	"A carbon group element that has formula Pb." []	201529	\N	\N	EFO	1	EFO	element	lead
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:25016	"A carbon group element that has formula Pb." []	554437	\N	\N	EFO	2	EFO	chemical entity	lead
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25016	"A carbon group element that has formula Pb." []	1137145	\N	\N	EFO	3	EFO	material entity	lead
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25016	"A carbon group element that has formula Pb." []	2020296	\N	\N	EFO	4	EFO	experimental factor	lead
CHEBI:2504	\N	\N	"This gene is involved in cell adhesion, differentiation, division and stress response." []	CHEBI:2504	"This gene is involved in cell adhesion, differentiation, division and stress response." []	62135	\N	\N	EFO	0	EFO	aflatoxin B1	aflatoxin B1
CHEBI:37577	CHEBI:2504	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2504	"This gene is involved in cell adhesion, differentiation, division and stress response." []	201530	\N	\N	EFO	1	EFO	chemical compound	aflatoxin B1
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2504	"This gene is involved in cell adhesion, differentiation, division and stress response." []	554438	\N	\N	EFO	2	EFO	chemical entity	aflatoxin B1
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2504	"This gene is involved in cell adhesion, differentiation, division and stress response." []	1137146	\N	\N	EFO	3	EFO	material entity	aflatoxin B1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2504	"This gene is involved in cell adhesion, differentiation, division and stress response." []	2020297	\N	\N	EFO	4	EFO	experimental factor	aflatoxin B1
CHEBI:25048	\N	\N	"Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins." []	CHEBI:25048	"Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins." []	62136	\N	\N	EFO	0	EFO	linolenic acid	linolenic acid
CHEBI:35366	CHEBI:25048	\N	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	CHEBI:25048	"Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins." []	201531	\N	\N	EFO	1	EFO	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	linolenic acid
CHEBI:18059	CHEBI:35366	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:25048	"Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins." []	554439	\N	\N	EFO	2	EFO	lipid	linolenic acid
EFO:0004416	CHEBI:35366	\N	"" []	CHEBI:25048	"Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins." []	554440	\N	\N	EFO	2	EFO	acid	linolenic acid
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:25048	"Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins." []	1137147	\N	\N	EFO	3	EFO	chemical compound	linolenic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:25048	"Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins." []	1137148	\N	\N	EFO	3	EFO	chemical compound	linolenic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:25048	"Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins." []	2020298	\N	\N	EFO	4	EFO	chemical entity	linolenic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25048	"Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins." []	3175393	\N	\N	EFO	5	EFO	material entity	linolenic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25048	"Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins." []	4386525	\N	\N	EFO	6	EFO	experimental factor	linolenic acid
CHEBI:25094	\N	\N	"" []	CHEBI:25094	"" []	62137	\N	\N	EFO	0	EFO	lysine	lysine
CHEBI:33709	CHEBI:25094	\N	"" []	CHEBI:25094	"" []	201532	\N	\N	EFO	1	EFO	amino acid	lysine
EFO:0004416	CHEBI:33709	\N	"" []	CHEBI:25094	"" []	554441	\N	\N	EFO	2	EFO	acid	lysine
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:25094	"" []	1137149	\N	\N	EFO	3	EFO	chemical compound	lysine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:25094	"" []	2020299	\N	\N	EFO	4	EFO	chemical entity	lysine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25094	"" []	3175394	\N	\N	EFO	5	EFO	material entity	lysine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25094	"" []	4386526	\N	\N	EFO	6	EFO	experimental factor	lysine
CHEBI:25107	\N	\N	"" []	CHEBI:25107	"" []	62138	\N	\N	EFO	0	EFO	magnesium	magnesium
CHEBI:33250	CHEBI:25107	\N	"" []	CHEBI:25107	"" []	201533	\N	\N	EFO	1	EFO	element	magnesium
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:25107	"" []	554442	\N	\N	EFO	2	EFO	chemical entity	magnesium
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25107	"" []	1137150	\N	\N	EFO	3	EFO	material entity	magnesium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25107	"" []	2020300	\N	\N	EFO	4	EFO	experimental factor	magnesium
CHEBI:2511	\N	\N	"A polysaccharide that has formula (C12H18O9)n." []	CHEBI:2511	"A polysaccharide that has formula (C12H18O9)n." []	62139	\N	\N	EFO	0	EFO	agarose	agarose
CHEBI:37577	CHEBI:2511	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2511	"A polysaccharide that has formula (C12H18O9)n." []	201534	\N	\N	EFO	1	EFO	chemical compound	agarose
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2511	"A polysaccharide that has formula (C12H18O9)n." []	554443	\N	\N	EFO	2	EFO	chemical entity	agarose
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2511	"A polysaccharide that has formula (C12H18O9)n." []	1137151	\N	\N	EFO	3	EFO	material entity	agarose
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2511	"A polysaccharide that has formula (C12H18O9)n." []	2020301	\N	\N	EFO	4	EFO	experimental factor	agarose
CHEBI:25212	\N	\N	"Any intermediate or product resulting from metabolism." []	CHEBI:25212	"Any intermediate or product resulting from metabolism." []	62140	\N	\N	EFO	0	EFO	metabolite role	metabolite role
BFO:0000023	CHEBI:25212	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:25212	"Any intermediate or product resulting from metabolism." []	201535	\N	\N	EFO	1	EFO	role	metabolite role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:25212	"Any intermediate or product resulting from metabolism." []	554444	\N	\N	EFO	2	EFO	material property	metabolite role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25212	"Any intermediate or product resulting from metabolism." []	1137152	\N	\N	EFO	3	EFO	experimental factor	metabolite role
CHEBI:25255	\N	\N	"A methanesulfonate ester that has formula C2H6O3S." []	CHEBI:25255	"A methanesulfonate ester that has formula C2H6O3S." []	62141	\N	\N	EFO	0	EFO	methyl methanesulfonate	methyl methanesulfonate
CHEBI:24431	CHEBI:25255	\N	"" []	CHEBI:25255	"A methanesulfonate ester that has formula C2H6O3S." []	201536	\N	\N	EFO	1	EFO	chemical entity	methyl methanesulfonate
EFO:0004415	CHEBI:25255	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:25255	"A methanesulfonate ester that has formula C2H6O3S." []	201537	\N	\N	EFO	1	EFO	ionic salt	methyl methanesulfonate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:25255	"A methanesulfonate ester that has formula C2H6O3S." []	554445	\N	\N	EFO	2	EFO	chemical compound	methyl methanesulfonate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:25255	"A methanesulfonate ester that has formula C2H6O3S." []	1137153	\N	\N	EFO	3	EFO	chemical entity	methyl methanesulfonate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25255	"A methanesulfonate ester that has formula C2H6O3S." []	2020302	\N	\N	EFO	4	EFO	material entity	methyl methanesulfonate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25255	"A methanesulfonate ester that has formula C2H6O3S." []	3175395	\N	\N	EFO	5	EFO	experimental factor	methyl methanesulfonate
CHEBI:25350	\N	\N	"" []	CHEBI:25350	"" []	62142	\N	\N	EFO	0	EFO	mevalonate	mevalonate
CHEBI:37577	CHEBI:25350	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:25350	"" []	201538	\N	\N	EFO	1	EFO	chemical compound	mevalonate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:25350	"" []	554446	\N	\N	EFO	2	EFO	chemical entity	mevalonate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25350	"" []	1137154	\N	\N	EFO	3	EFO	material entity	mevalonate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25350	"" []	2020303	\N	\N	EFO	4	EFO	experimental factor	mevalonate
CHEBI:25355	\N	\N	"" []	CHEBI:25355	"" []	62143	\N	\N	EFO	0	EFO	mitochondrial respiratory-chain inhibitor	mitochondrial respiratory-chain inhibitor
CHEBI:23924	CHEBI:25355	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:25355	"" []	201539	\N	\N	EFO	1	EFO	enzyme inhibitor	mitochondrial respiratory-chain inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:25355	"" []	554447	\N	\N	EFO	2	EFO	biological role	mitochondrial respiratory-chain inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:25355	"" []	554448	\N	\N	EFO	2	EFO	inhibitor role	mitochondrial respiratory-chain inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:25355	"" []	1137155	\N	\N	EFO	3	EFO	role	mitochondrial respiratory-chain inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:25355	"" []	1137156	\N	\N	EFO	3	EFO	chemical role	mitochondrial respiratory-chain inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:25355	"" []	3175397	\N	\N	EFO	5	EFO	material property	mitochondrial respiratory-chain inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:25355	"" []	2020305	\N	\N	EFO	4	EFO	role	mitochondrial respiratory-chain inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25355	"" []	4132398	\N	\N	EFO	6	EFO	experimental factor	mitochondrial respiratory-chain inhibitor
CHEBI:25434	\N	\N	"An ethyl sulfide that has formula C4H8Cl2S." []	CHEBI:25434	"An ethyl sulfide that has formula C4H8Cl2S." []	62144	\N	\N	EFO	0	EFO	bis(2-chloroethyl) sulfide	bis(2-chloroethyl) sulfide
EFO:0004415	CHEBI:25434	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:25434	"An ethyl sulfide that has formula C4H8Cl2S." []	201540	\N	\N	EFO	1	EFO	ionic salt	bis(2-chloroethyl) sulfide
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:25434	"An ethyl sulfide that has formula C4H8Cl2S." []	554449	\N	\N	EFO	2	EFO	chemical compound	bis(2-chloroethyl) sulfide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:25434	"An ethyl sulfide that has formula C4H8Cl2S." []	1137157	\N	\N	EFO	3	EFO	chemical entity	bis(2-chloroethyl) sulfide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25434	"An ethyl sulfide that has formula C4H8Cl2S." []	2020306	\N	\N	EFO	4	EFO	material entity	bis(2-chloroethyl) sulfide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25434	"An ethyl sulfide that has formula C4H8Cl2S." []	3175398	\N	\N	EFO	5	EFO	experimental factor	bis(2-chloroethyl) sulfide
CHEBI:25435	\N	\N	"An agent that increases the frequency of spontanenous mutation, usually by interacting directly with DNA and causing it damage, including base substitution." []	CHEBI:25435	"An agent that increases the frequency of spontanenous mutation, usually by interacting directly with DNA and causing it damage, including base substitution." []	62145	\N	\N	EFO	0	EFO	mutagen	mutagen
CHEBI:24432	CHEBI:25435	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:25435	"An agent that increases the frequency of spontanenous mutation, usually by interacting directly with DNA and causing it damage, including base substitution." []	201541	\N	\N	EFO	1	EFO	biological role	mutagen
CHEBI:51086	CHEBI:25435	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:25435	"An agent that increases the frequency of spontanenous mutation, usually by interacting directly with DNA and causing it damage, including base substitution." []	201542	\N	\N	EFO	1	EFO	chemical role	mutagen
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:25435	"An agent that increases the frequency of spontanenous mutation, usually by interacting directly with DNA and causing it damage, including base substitution." []	554450	\N	\N	EFO	2	EFO	role	mutagen
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:25435	"An agent that increases the frequency of spontanenous mutation, usually by interacting directly with DNA and causing it damage, including base substitution." []	554451	\N	\N	EFO	2	EFO	role	mutagen
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:25435	"An agent that increases the frequency of spontanenous mutation, usually by interacting directly with DNA and causing it damage, including base substitution." []	1137158	\N	\N	EFO	3	EFO	material property	mutagen
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25435	"An agent that increases the frequency of spontanenous mutation, usually by interacting directly with DNA and causing it damage, including base substitution." []	2020307	\N	\N	EFO	4	EFO	experimental factor	mutagen
CHEBI:254496	\N	\N	"A tetraphene having methyl substituents at the 7- and 12-positions. It is a potent carcinogen and is present in tobacco smoke." []	CHEBI:254496	"A tetraphene having methyl substituents at the 7- and 12-positions. It is a potent carcinogen and is present in tobacco smoke." []	62146	\N	\N	EFO	0	EFO	7,12-dimethylbenz(a)anthracene	7,12-dimethylbenz(a)anthracene
CHEBI:37577	CHEBI:254496	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:254496	"A tetraphene having methyl substituents at the 7- and 12-positions. It is a potent carcinogen and is present in tobacco smoke." []	201543	\N	\N	EFO	1	EFO	chemical compound	7,12-dimethylbenz(a)anthracene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:254496	"A tetraphene having methyl substituents at the 7- and 12-positions. It is a potent carcinogen and is present in tobacco smoke." []	554452	\N	\N	EFO	2	EFO	chemical entity	7,12-dimethylbenz(a)anthracene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:254496	"A tetraphene having methyl substituents at the 7- and 12-positions. It is a potent carcinogen and is present in tobacco smoke." []	1137159	\N	\N	EFO	3	EFO	material entity	7,12-dimethylbenz(a)anthracene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:254496	"A tetraphene having methyl substituents at the 7- and 12-positions. It is a potent carcinogen and is present in tobacco smoke." []	2020308	\N	\N	EFO	4	EFO	experimental factor	7,12-dimethylbenz(a)anthracene
CHEBI:25461	\N	\N	"A 2,4'-bi-1,3-thiazole substituted at the 4-position with a (1E,3S,4R,5E)-7-amino-3,5-dimethoxy-4-methyl-7-oxohepta-1,5-dien-1-yl] group and at the 2'-position with a (2S,3E,5E)-7-methylocta-3,5-dien-2-yl group. It is an inhibitor of coenzyme Q - cytochrome c reductase." []	CHEBI:25461	"A 2,4'-bi-1,3-thiazole substituted at the 4-position with a (1E,3S,4R,5E)-7-amino-3,5-dimethoxy-4-methyl-7-oxohepta-1,5-dien-1-yl] group and at the 2'-position with a (2S,3E,5E)-7-methylocta-3,5-dien-2-yl group. It is an inhibitor of coenzyme Q - cytochrome c reductase." []	62147	\N	\N	EFO	0	EFO	myxothiazol	myxothiazol
CHEBI:37577	CHEBI:25461	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:25461	"A 2,4'-bi-1,3-thiazole substituted at the 4-position with a (1E,3S,4R,5E)-7-amino-3,5-dimethoxy-4-methyl-7-oxohepta-1,5-dien-1-yl] group and at the 2'-position with a (2S,3E,5E)-7-methylocta-3,5-dien-2-yl group. It is an inhibitor of coenzyme Q - cytochrome c reductase." []	201544	\N	\N	EFO	1	EFO	chemical compound	myxothiazol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:25461	"A 2,4'-bi-1,3-thiazole substituted at the 4-position with a (1E,3S,4R,5E)-7-amino-3,5-dimethoxy-4-methyl-7-oxohepta-1,5-dien-1-yl] group and at the 2'-position with a (2S,3E,5E)-7-methylocta-3,5-dien-2-yl group. It is an inhibitor of coenzyme Q - cytochrome c reductase." []	554453	\N	\N	EFO	2	EFO	chemical entity	myxothiazol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25461	"A 2,4'-bi-1,3-thiazole substituted at the 4-position with a (1E,3S,4R,5E)-7-amino-3,5-dimethoxy-4-methyl-7-oxohepta-1,5-dien-1-yl] group and at the 2'-position with a (2S,3E,5E)-7-methylocta-3,5-dien-2-yl group. It is an inhibitor of coenzyme Q - cytochrome c reductase." []	1137160	\N	\N	EFO	3	EFO	material entity	myxothiazol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25461	"A 2,4'-bi-1,3-thiazole substituted at the 4-position with a (1E,3S,4R,5E)-7-amino-3,5-dimethoxy-4-methyl-7-oxohepta-1,5-dien-1-yl] group and at the 2'-position with a (2S,3E,5E)-7-methylocta-3,5-dien-2-yl group. It is an inhibitor of coenzyme Q - cytochrome c reductase." []	2020309	\N	\N	EFO	4	EFO	experimental factor	myxothiazol
CHEBI:2555	\N	\N	"The oxime carbamate resulting from the addition of 2-methyl-2-(methylsulfanyl)propanaldoxime to methyl isocyanate. A member of the class of oxime carbamate insecticides, aldicarb is a mixture of E and Z isomers; it is not known which isomer is more active." []	CHEBI:2555	"The oxime carbamate resulting from the addition of 2-methyl-2-(methylsulfanyl)propanaldoxime to methyl isocyanate. A member of the class of oxime carbamate insecticides, aldicarb is a mixture of E and Z isomers; it is not known which isomer is more active." []	62148	\N	\N	EFO	0	EFO	aldicarb	aldicarb
CHEBI:37577	CHEBI:2555	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2555	"The oxime carbamate resulting from the addition of 2-methyl-2-(methylsulfanyl)propanaldoxime to methyl isocyanate. A member of the class of oxime carbamate insecticides, aldicarb is a mixture of E and Z isomers; it is not known which isomer is more active." []	201545	\N	\N	EFO	1	EFO	chemical compound	aldicarb
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2555	"The oxime carbamate resulting from the addition of 2-methyl-2-(methylsulfanyl)propanaldoxime to methyl isocyanate. A member of the class of oxime carbamate insecticides, aldicarb is a mixture of E and Z isomers; it is not known which isomer is more active." []	554454	\N	\N	EFO	2	EFO	chemical entity	aldicarb
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2555	"The oxime carbamate resulting from the addition of 2-methyl-2-(methylsulfanyl)propanaldoxime to methyl isocyanate. A member of the class of oxime carbamate insecticides, aldicarb is a mixture of E and Z isomers; it is not known which isomer is more active." []	1137161	\N	\N	EFO	3	EFO	material entity	aldicarb
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2555	"The oxime carbamate resulting from the addition of 2-methyl-2-(methylsulfanyl)propanaldoxime to methyl isocyanate. A member of the class of oxime carbamate insecticides, aldicarb is a mixture of E and Z isomers; it is not known which isomer is more active." []	2020310	\N	\N	EFO	4	EFO	experimental factor	aldicarb
CHEBI:25555	\N	\N	"" []	CHEBI:25555	"" []	62149	\N	\N	EFO	0	EFO	nitrogen atom	nitrogen atom
CHEBI:37577	CHEBI:25555	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:25555	"" []	201546	\N	\N	EFO	1	EFO	chemical compound	nitrogen atom
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:25555	"" []	554455	\N	\N	EFO	2	EFO	chemical entity	nitrogen atom
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25555	"" []	1137162	\N	\N	EFO	3	EFO	material entity	nitrogen atom
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25555	"" []	2020311	\N	\N	EFO	4	EFO	experimental factor	nitrogen atom
CHEBI:2567	\N	\N	"" []	CHEBI:2567	"" []	62150	\N	\N	EFO	0	EFO	alendronic acid	alendronic acid
EFO:0004416	CHEBI:2567	\N	"" []	CHEBI:2567	"" []	201547	\N	\N	EFO	1	EFO	acid	alendronic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2567	"" []	554456	\N	\N	EFO	2	EFO	chemical compound	alendronic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2567	"" []	1137163	\N	\N	EFO	3	EFO	chemical entity	alendronic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2567	"" []	2020312	\N	\N	EFO	4	EFO	material entity	alendronic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2567	"" []	3175399	\N	\N	EFO	5	EFO	experimental factor	alendronic acid
CHEBI:25675	\N	\N	"" []	CHEBI:25675	"" []	62151	\N	\N	EFO	0	EFO	oligomycin	oligomycin
CHEBI:37577	CHEBI:25675	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:25675	"" []	201548	\N	\N	EFO	1	EFO	chemical compound	oligomycin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:25675	"" []	554457	\N	\N	EFO	2	EFO	chemical entity	oligomycin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25675	"" []	1137164	\N	\N	EFO	3	EFO	material entity	oligomycin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25675	"" []	2020313	\N	\N	EFO	4	EFO	experimental factor	oligomycin
CHEBI:25682	\N	\N	"" []	CHEBI:25682	"" []	62152	\N	\N	EFO	0	EFO	symmetric dimethylarginine	symmetric dimethylarginine
CHEBI:37577	CHEBI:25682	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:25682	"" []	201549	\N	\N	EFO	1	EFO	chemical compound	symmetric dimethylarginine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:25682	"" []	554458	\N	\N	EFO	2	EFO	chemical entity	symmetric dimethylarginine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25682	"" []	1137165	\N	\N	EFO	3	EFO	material entity	symmetric dimethylarginine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25682	"" []	2020314	\N	\N	EFO	4	EFO	experimental factor	symmetric dimethylarginine
CHEBI:25705	\N	\N	"" []	CHEBI:25705	"" []	62153	\N	\N	EFO	0	EFO	organochlorine pesticides	organochlorine pesticides
CHEBI:37577	CHEBI:25705	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:25705	"" []	201550	\N	\N	EFO	1	EFO	chemical compound	organochlorine pesticides
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:25705	"" []	554459	\N	\N	EFO	2	EFO	chemical entity	organochlorine pesticides
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25705	"" []	1137166	\N	\N	EFO	3	EFO	material entity	organochlorine pesticides
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25705	"" []	2020315	\N	\N	EFO	4	EFO	experimental factor	organochlorine pesticides
CHEBI:25812	\N	\N	"A triatomic oxygen that has formula O3." []	CHEBI:25812	"A triatomic oxygen that has formula O3." []	62154	\N	\N	EFO	0	EFO	ozone	ozone
CHEBI:37577	CHEBI:25812	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:25812	"A triatomic oxygen that has formula O3." []	201551	\N	\N	EFO	1	EFO	chemical compound	ozone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:25812	"A triatomic oxygen that has formula O3." []	554460	\N	\N	EFO	2	EFO	chemical entity	ozone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:25812	"A triatomic oxygen that has formula O3." []	1137167	\N	\N	EFO	3	EFO	material entity	ozone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:25812	"A triatomic oxygen that has formula O3." []	2020316	\N	\N	EFO	4	EFO	experimental factor	ozone
CHEBI:26020	\N	\N	"Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom." []	CHEBI:26020	"Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom." []	62155	\N	\N	EFO	0	EFO	phosphate	phosphate
CHEBI:37577	CHEBI:26020	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:26020	"Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom." []	201552	\N	\N	EFO	1	EFO	chemical compound	phosphate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:26020	"Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom." []	554461	\N	\N	EFO	2	EFO	chemical entity	phosphate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:26020	"Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom." []	1137168	\N	\N	EFO	3	EFO	material entity	phosphate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:26020	"Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom." []	2020317	\N	\N	EFO	4	EFO	experimental factor	phosphate
CHEBI:26130	\N	\N	"An endogenous molecular entity that results in a colour of an organism as the consequence of the selective absorption of light." []	CHEBI:26130	"An endogenous molecular entity that results in a colour of an organism as the consequence of the selective absorption of light." []	62156	\N	\N	EFO	0	EFO	pigment	pigment
EFO:0000787	CHEBI:26130	\N	"" []	CHEBI:26130	"An endogenous molecular entity that results in a colour of an organism as the consequence of the selective absorption of light." []	201553	\N	\N	EFO	1	EFO	animal component	pigment
EFO:0000786	EFO:0000787	\N	"" []	CHEBI:26130	"An endogenous molecular entity that results in a colour of an organism as the consequence of the selective absorption of light." []	554462	\N	\N	EFO	2	EFO	anatomy basic component	pigment
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CHEBI:26130	"An endogenous molecular entity that results in a colour of an organism as the consequence of the selective absorption of light." []	1137169	\N	\N	EFO	3	EFO	organism part	pigment
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:26130	"An endogenous molecular entity that results in a colour of an organism as the consequence of the selective absorption of light." []	2020318	\N	\N	EFO	4	EFO	material entity	pigment
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:26130	"An endogenous molecular entity that results in a colour of an organism as the consequence of the selective absorption of light." []	3175400	\N	\N	EFO	5	EFO	experimental factor	pigment
CHEBI:26155	\N	\N	"A chemical, natural or artificial, that can affect the rate of growth of a plant." []	CHEBI:26155	"A chemical, natural or artificial, that can affect the rate of growth of a plant." []	62157	\N	\N	EFO	0	EFO	plant growth regulator	plant growth regulator
CHEBI:24432	CHEBI:26155	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:26155	"A chemical, natural or artificial, that can affect the rate of growth of a plant." []	201554	\N	\N	EFO	1	EFO	biological role	plant growth regulator
CHEBI:51086	CHEBI:26155	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:26155	"A chemical, natural or artificial, that can affect the rate of growth of a plant." []	201555	\N	\N	EFO	1	EFO	chemical role	plant growth regulator
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:26155	"A chemical, natural or artificial, that can affect the rate of growth of a plant." []	554463	\N	\N	EFO	2	EFO	role	plant growth regulator
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:26155	"A chemical, natural or artificial, that can affect the rate of growth of a plant." []	554464	\N	\N	EFO	2	EFO	role	plant growth regulator
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:26155	"A chemical, natural or artificial, that can affect the rate of growth of a plant." []	1137170	\N	\N	EFO	3	EFO	material property	plant growth regulator
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:26155	"A chemical, natural or artificial, that can affect the rate of growth of a plant." []	2020319	\N	\N	EFO	4	EFO	experimental factor	plant growth regulator
CHEBI:26158	\N	\N	"" []	CHEBI:26158	"" []	62158	\N	\N	EFO	0	EFO	phytohormone	phytohormone
EFO:0001824	CHEBI:26158	\N	"" []	CHEBI:26158	"" []	201556	\N	\N	EFO	1	EFO	hormone role	phytohormone
CHEBI:24432	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:26158	"" []	554465	\N	\N	EFO	2	EFO	biological role	phytohormone
CHEBI:51086	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:26158	"" []	554466	\N	\N	EFO	2	EFO	chemical role	phytohormone
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:26158	"" []	1137171	\N	\N	EFO	3	EFO	role	phytohormone
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:26158	"" []	1137172	\N	\N	EFO	3	EFO	role	phytohormone
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:26158	"" []	2020320	\N	\N	EFO	4	EFO	material property	phytohormone
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:26158	"" []	3175401	\N	\N	EFO	5	EFO	experimental factor	phytohormone
CHEBI:26216	\N	\N	"" []	CHEBI:26216	"" []	62159	\N	\N	EFO	0	EFO	potassium	potassium
CHEBI:33250	CHEBI:26216	\N	"" []	CHEBI:26216	"" []	201557	\N	\N	EFO	1	EFO	element	potassium
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:26216	"" []	554467	\N	\N	EFO	2	EFO	chemical entity	potassium
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:26216	"" []	1137173	\N	\N	EFO	3	EFO	material entity	potassium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:26216	"" []	2020321	\N	\N	EFO	4	EFO	experimental factor	potassium
CHEBI:2637	\N	\N	"An alpha-D-glucoside that has formula C22H43N5O13." []	CHEBI:2637	"An alpha-D-glucoside that has formula C22H43N5O13." []	62160	\N	\N	EFO	0	EFO	amikacin	amikacin
CHEBI:37577	CHEBI:2637	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2637	"An alpha-D-glucoside that has formula C22H43N5O13." []	201558	\N	\N	EFO	1	EFO	chemical compound	amikacin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2637	"An alpha-D-glucoside that has formula C22H43N5O13." []	554468	\N	\N	EFO	2	EFO	chemical entity	amikacin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2637	"An alpha-D-glucoside that has formula C22H43N5O13." []	1137174	\N	\N	EFO	3	EFO	material entity	amikacin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2637	"An alpha-D-glucoside that has formula C22H43N5O13." []	2020322	\N	\N	EFO	4	EFO	experimental factor	amikacin
CHEBI:26536	\N	\N	"A retinoid that has formula C20H28O2." []	CHEBI:26536	"A retinoid that has formula C20H28O2." []	62161	\N	\N	EFO	0	EFO	retinoic acid	retinoic acid
EFO:0004416	CHEBI:26536	\N	"" []	CHEBI:26536	"A retinoid that has formula C20H28O2." []	201559	\N	\N	EFO	1	EFO	acid	retinoic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:26536	"A retinoid that has formula C20H28O2." []	554469	\N	\N	EFO	2	EFO	chemical compound	retinoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:26536	"A retinoid that has formula C20H28O2." []	1137175	\N	\N	EFO	3	EFO	chemical entity	retinoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:26536	"A retinoid that has formula C20H28O2." []	2020323	\N	\N	EFO	4	EFO	material entity	retinoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:26536	"A retinoid that has formula C20H28O2." []	3175402	\N	\N	EFO	5	EFO	experimental factor	retinoic acid
CHEBI:2663	\N	\N	"" []	CHEBI:2663	"" []	62162	\N	\N	EFO	0	EFO	amiodarone	amiodarone
CHEBI:37577	CHEBI:2663	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2663	"" []	201560	\N	\N	EFO	1	EFO	chemical compound	amiodarone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2663	"" []	554470	\N	\N	EFO	2	EFO	chemical entity	amiodarone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2663	"" []	1137176	\N	\N	EFO	3	EFO	material entity	amiodarone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2663	"" []	2020324	\N	\N	EFO	4	EFO	experimental factor	amiodarone
CHEBI:2666	\N	\N	"A tricyclic antidepressant that has formula C20H23N." []	CHEBI:2666	"A tricyclic antidepressant that has formula C20H23N." []	62163	\N	\N	EFO	0	EFO	amitriptyline	amitriptyline
CHEBI:23888	CHEBI:2666	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:2666	"A tricyclic antidepressant that has formula C20H23N." []	201561	\N	\N	EFO	1	EFO	drug	amitriptyline
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2666	"A tricyclic antidepressant that has formula C20H23N." []	554471	\N	\N	EFO	2	EFO	chemical compound	amitriptyline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2666	"A tricyclic antidepressant that has formula C20H23N." []	1137177	\N	\N	EFO	3	EFO	chemical entity	amitriptyline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2666	"A tricyclic antidepressant that has formula C20H23N." []	2020325	\N	\N	EFO	4	EFO	material entity	amitriptyline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2666	"A tricyclic antidepressant that has formula C20H23N." []	3175403	\N	\N	EFO	5	EFO	experimental factor	amitriptyline
CHEBI:26710	\N	\N	"" []	CHEBI:26710	"" []	62164	\N	\N	EFO	0	EFO	sodium chloride	sodium chloride
CHEBI:24431	CHEBI:26710	\N	"" []	CHEBI:26710	"" []	201562	\N	\N	EFO	1	EFO	chemical entity	sodium chloride
EFO:0004415	CHEBI:26710	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:26710	"" []	201563	\N	\N	EFO	1	EFO	ionic salt	sodium chloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:26710	"" []	554472	\N	\N	EFO	2	EFO	chemical compound	sodium chloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:26710	"" []	1137178	\N	\N	EFO	3	EFO	chemical entity	sodium chloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:26710	"" []	2020326	\N	\N	EFO	4	EFO	material entity	sodium chloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:26710	"" []	3175404	\N	\N	EFO	5	EFO	experimental factor	sodium chloride
CHEBI:26711	\N	\N	"\\"A cholate salt that has formula C24H39NaO5.\\" []" []	CHEBI:26711	"\\"A cholate salt that has formula C24H39NaO5.\\" []" []	62165	\N	\N	EFO	0	EFO	sodium cholate	sodium cholate
EFO:0004415	CHEBI:26711	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:26711	"\\"A cholate salt that has formula C24H39NaO5.\\" []" []	201564	\N	\N	EFO	1	EFO	ionic salt	sodium cholate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:26711	"\\"A cholate salt that has formula C24H39NaO5.\\" []" []	554473	\N	\N	EFO	2	EFO	chemical compound	sodium cholate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:26711	"\\"A cholate salt that has formula C24H39NaO5.\\" []" []	1137179	\N	\N	EFO	3	EFO	chemical entity	sodium cholate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:26711	"\\"A cholate salt that has formula C24H39NaO5.\\" []" []	2020327	\N	\N	EFO	4	EFO	material entity	sodium cholate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:26711	"\\"A cholate salt that has formula C24H39NaO5.\\" []" []	3175405	\N	\N	EFO	5	EFO	experimental factor	sodium cholate
CHEBI:2676	\N	\N	"A penicillin that has formula C16H19N3O5S." []	CHEBI:2676	"A penicillin that has formula C16H19N3O5S." []	62166	\N	\N	EFO	0	EFO	amoxicillin	amoxicillin
CHEBI:37577	CHEBI:2676	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2676	"A penicillin that has formula C16H19N3O5S." []	201565	\N	\N	EFO	1	EFO	chemical compound	amoxicillin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2676	"A penicillin that has formula C16H19N3O5S." []	554474	\N	\N	EFO	2	EFO	chemical entity	amoxicillin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2676	"A penicillin that has formula C16H19N3O5S." []	1137180	\N	\N	EFO	3	EFO	material entity	amoxicillin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2676	"A penicillin that has formula C16H19N3O5S." []	2020328	\N	\N	EFO	4	EFO	experimental factor	amoxicillin
CHEBI:26764	\N	\N	"Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE." []	CHEBI:26764	"Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE." []	62167	\N	\N	EFO	0	EFO	steroid hormone	steroid hormone
CHEBI:24621	CHEBI:26764	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:26764	"Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE." []	201566	\N	\N	EFO	1	EFO	hormone	steroid hormone
CHEBI:35341	CHEBI:26764	\N	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	CHEBI:26764	"Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE." []	201567	\N	\N	EFO	1	EFO	steroid	steroid hormone
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:26764	"Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE." []	554475	\N	\N	EFO	2	EFO	chemical compound	steroid hormone
CHEBI:37577	CHEBI:35341	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:26764	"Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE." []	554476	\N	\N	EFO	2	EFO	chemical compound	steroid hormone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:26764	"Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE." []	1137181	\N	\N	EFO	3	EFO	chemical entity	steroid hormone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:26764	"Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE." []	2020329	\N	\N	EFO	4	EFO	material entity	steroid hormone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:26764	"Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE." []	3175406	\N	\N	EFO	5	EFO	experimental factor	steroid hormone
CHEBI:2682	\N	\N	"A macrolide antibiotic used to treat potentially life-threatening fungal infections." []	CHEBI:2682	"A macrolide antibiotic used to treat potentially life-threatening fungal infections." []	62168	\N	\N	EFO	0	EFO	amphotericin B	amphotericin B
CHEBI:37577	CHEBI:2682	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2682	"A macrolide antibiotic used to treat potentially life-threatening fungal infections." []	201568	\N	\N	EFO	1	EFO	chemical compound	amphotericin B
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2682	"A macrolide antibiotic used to treat potentially life-threatening fungal infections." []	554477	\N	\N	EFO	2	EFO	chemical entity	amphotericin B
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2682	"A macrolide antibiotic used to treat potentially life-threatening fungal infections." []	1137182	\N	\N	EFO	3	EFO	material entity	amphotericin B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2682	"A macrolide antibiotic used to treat potentially life-threatening fungal infections." []	2020330	\N	\N	EFO	4	EFO	experimental factor	amphotericin B
CHEBI:26863	\N	\N	"" []	CHEBI:26863	"" []	62169	\N	\N	EFO	0	EFO	teasterone	teasterone
CHEBI:37577	CHEBI:26863	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:26863	"" []	201569	\N	\N	EFO	1	EFO	chemical compound	teasterone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:26863	"" []	554478	\N	\N	EFO	2	EFO	chemical entity	teasterone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:26863	"" []	1137183	\N	\N	EFO	3	EFO	material entity	teasterone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:26863	"" []	2020331	\N	\N	EFO	4	EFO	experimental factor	teasterone
CHEBI:27026	\N	\N	"Poisonous substance produced by a biological organism such as a microbe, animal or plant." []	CHEBI:27026	"Poisonous substance produced by a biological organism such as a microbe, animal or plant." []	62170	\N	\N	EFO	0	EFO	toxin	toxin
CHEBI:24432	CHEBI:27026	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:27026	"Poisonous substance produced by a biological organism such as a microbe, animal or plant." []	201570	\N	\N	EFO	1	EFO	biological role	toxin
CHEBI:51086	CHEBI:27026	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:27026	"Poisonous substance produced by a biological organism such as a microbe, animal or plant." []	201571	\N	\N	EFO	1	EFO	chemical role	toxin
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:27026	"Poisonous substance produced by a biological organism such as a microbe, animal or plant." []	554479	\N	\N	EFO	2	EFO	role	toxin
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:27026	"Poisonous substance produced by a biological organism such as a microbe, animal or plant." []	554480	\N	\N	EFO	2	EFO	role	toxin
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:27026	"Poisonous substance produced by a biological organism such as a microbe, animal or plant." []	1137184	\N	\N	EFO	3	EFO	material property	toxin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27026	"Poisonous substance produced by a biological organism such as a microbe, animal or plant." []	2020332	\N	\N	EFO	4	EFO	experimental factor	toxin
CHEBI:27027	\N	\N	"" []	CHEBI:27027	"" []	62171	\N	\N	EFO	0	EFO	micronutrient	micronutrient
CHEBI:24432	CHEBI:27027	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:27027	"" []	201572	\N	\N	EFO	1	EFO	biological role	micronutrient
CHEBI:51086	CHEBI:27027	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:27027	"" []	201573	\N	\N	EFO	1	EFO	chemical role	micronutrient
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:27027	"" []	554481	\N	\N	EFO	2	EFO	role	micronutrient
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:27027	"" []	554482	\N	\N	EFO	2	EFO	role	micronutrient
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:27027	"" []	1137185	\N	\N	EFO	3	EFO	material property	micronutrient
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27027	"" []	2020333	\N	\N	EFO	4	EFO	experimental factor	micronutrient
CHEBI:2704	\N	\N	"A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position." []	CHEBI:2704	"A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position." []	62172	\N	\N	EFO	0	EFO	anastrozole	anastrozole
CHEBI:37577	CHEBI:2704	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2704	"A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position." []	201574	\N	\N	EFO	1	EFO	chemical compound	anastrozole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2704	"A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position." []	554483	\N	\N	EFO	2	EFO	chemical entity	anastrozole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2704	"A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position." []	1137186	\N	\N	EFO	3	EFO	material entity	anastrozole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2704	"A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position." []	2020334	\N	\N	EFO	4	EFO	experimental factor	anastrozole
CHEBI:27173	\N	\N	"" []	CHEBI:27173	"" []	62173	\N	\N	EFO	0	EFO	typhasterol	typhasterol
CHEBI:37577	CHEBI:27173	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27173	"" []	201575	\N	\N	EFO	1	EFO	chemical compound	typhasterol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27173	"" []	554484	\N	\N	EFO	2	EFO	chemical entity	typhasterol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27173	"" []	1137187	\N	\N	EFO	3	EFO	material entity	typhasterol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27173	"" []	2020335	\N	\N	EFO	4	EFO	experimental factor	typhasterol
CHEBI:27226	\N	\N	"" []	CHEBI:27226	"" []	62174	\N	\N	EFO	0	EFO	uric acid	uric acid
EFO:0004416	CHEBI:27226	\N	"" []	CHEBI:27226	"" []	201576	\N	\N	EFO	1	EFO	acid	uric acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27226	"" []	554485	\N	\N	EFO	2	EFO	chemical compound	uric acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27226	"" []	1137188	\N	\N	EFO	3	EFO	chemical entity	uric acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27226	"" []	2020336	\N	\N	EFO	4	EFO	material entity	uric acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27226	"" []	3175407	\N	\N	EFO	5	EFO	experimental factor	uric acid
CHEBI:27300	\N	\N	"Vitamin D is a group of fat-soluble prohormones, which can be obtained from sun exposure, food and supplements. Vitamin D is biologically inactive and converted to the biologically active calcicitriol via double hydroxilation in the body." []	CHEBI:27300	"Vitamin D is a group of fat-soluble prohormones, which can be obtained from sun exposure, food and supplements. Vitamin D is biologically inactive and converted to the biologically active calcicitriol via double hydroxilation in the body." []	62175	\N	\N	EFO	0	EFO	Vitamin D	Vitamin D
CHEBI:37577	CHEBI:27300	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27300	"Vitamin D is a group of fat-soluble prohormones, which can be obtained from sun exposure, food and supplements. Vitamin D is biologically inactive and converted to the biologically active calcicitriol via double hydroxilation in the body." []	201577	\N	\N	EFO	1	EFO	chemical compound	Vitamin D
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27300	"Vitamin D is a group of fat-soluble prohormones, which can be obtained from sun exposure, food and supplements. Vitamin D is biologically inactive and converted to the biologically active calcicitriol via double hydroxilation in the body." []	554486	\N	\N	EFO	2	EFO	chemical entity	Vitamin D
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27300	"Vitamin D is a group of fat-soluble prohormones, which can be obtained from sun exposure, food and supplements. Vitamin D is biologically inactive and converted to the biologically active calcicitriol via double hydroxilation in the body." []	1137189	\N	\N	EFO	3	EFO	material entity	Vitamin D
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27300	"Vitamin D is a group of fat-soluble prohormones, which can be obtained from sun exposure, food and supplements. Vitamin D is biologically inactive and converted to the biologically active calcicitriol via double hydroxilation in the body." []	2020337	\N	\N	EFO	4	EFO	experimental factor	Vitamin D
CHEBI:27363	\N	\N	"A zinc group element that has formula Zn." []	CHEBI:27363	"A zinc group element that has formula Zn." []	62176	\N	\N	EFO	0	EFO	Zinc	Zinc
CHEBI:33250	CHEBI:27363	\N	"" []	CHEBI:27363	"A zinc group element that has formula Zn." []	201578	\N	\N	EFO	1	EFO	element	Zinc
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:27363	"A zinc group element that has formula Zn." []	554487	\N	\N	EFO	2	EFO	chemical entity	Zinc
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27363	"A zinc group element that has formula Zn." []	1137190	\N	\N	EFO	3	EFO	material entity	Zinc
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27363	"A zinc group element that has formula Zn." []	2020338	\N	\N	EFO	4	EFO	experimental factor	Zinc
CHEBI:27385	\N	\N	"" []	CHEBI:27385	"" []	62177	\N	\N	EFO	0	EFO	tetrachloromethane	tetrachloromethane
EFO:0004415	CHEBI:27385	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:27385	"" []	201579	\N	\N	EFO	1	EFO	ionic salt	tetrachloromethane
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27385	"" []	554488	\N	\N	EFO	2	EFO	chemical compound	tetrachloromethane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27385	"" []	1137191	\N	\N	EFO	3	EFO	chemical entity	tetrachloromethane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27385	"" []	2020339	\N	\N	EFO	4	EFO	material entity	tetrachloromethane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27385	"" []	3175408	\N	\N	EFO	5	EFO	experimental factor	tetrachloromethane
CHEBI:27407	\N	\N	"" []	CHEBI:27407	"" []	62178	\N	\N	EFO	0	EFO	kinetin	kinetin
CHEBI:37577	CHEBI:27407	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27407	"" []	201580	\N	\N	EFO	1	EFO	chemical compound	kinetin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27407	"" []	554489	\N	\N	EFO	2	EFO	chemical entity	kinetin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27407	"" []	1137192	\N	\N	EFO	3	EFO	material entity	kinetin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27407	"" []	2020340	\N	\N	EFO	4	EFO	experimental factor	kinetin
CHEBI:27432	\N	\N	"A linolenic acid with cis-double bonds at positions 9, 12 and 15. Shown to have an antithrombotic effect." []	CHEBI:27432	"A linolenic acid with cis-double bonds at positions 9, 12 and 15. Shown to have an antithrombotic effect." []	62179	\N	\N	EFO	0	EFO	alpha-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	alpha-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:25048	CHEBI:27432	\N	"Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins." []	CHEBI:27432	"A linolenic acid with cis-double bonds at positions 9, 12 and 15. Shown to have an antithrombotic effect." []	201581	\N	\N	EFO	1	EFO	linolenic acid	alpha-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:35366	CHEBI:25048	\N	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	CHEBI:27432	"A linolenic acid with cis-double bonds at positions 9, 12 and 15. Shown to have an antithrombotic effect." []	554490	\N	\N	EFO	2	EFO	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	alpha-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:18059	CHEBI:35366	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:27432	"A linolenic acid with cis-double bonds at positions 9, 12 and 15. Shown to have an antithrombotic effect." []	1137193	\N	\N	EFO	3	EFO	lipid	alpha-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004416	CHEBI:35366	\N	"" []	CHEBI:27432	"A linolenic acid with cis-double bonds at positions 9, 12 and 15. Shown to have an antithrombotic effect." []	1137194	\N	\N	EFO	3	EFO	acid	alpha-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27432	"A linolenic acid with cis-double bonds at positions 9, 12 and 15. Shown to have an antithrombotic effect." []	2020341	\N	\N	EFO	4	EFO	chemical compound	alpha-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27432	"A linolenic acid with cis-double bonds at positions 9, 12 and 15. Shown to have an antithrombotic effect." []	2020342	\N	\N	EFO	4	EFO	chemical compound	alpha-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27432	"A linolenic acid with cis-double bonds at positions 9, 12 and 15. Shown to have an antithrombotic effect." []	3175409	\N	\N	EFO	5	EFO	chemical entity	alpha-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27432	"A linolenic acid with cis-double bonds at positions 9, 12 and 15. Shown to have an antithrombotic effect." []	4386527	\N	\N	EFO	6	EFO	material entity	alpha-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27432	"A linolenic acid with cis-double bonds at positions 9, 12 and 15. Shown to have an antithrombotic effect." []	5407759	\N	\N	EFO	7	EFO	experimental factor	alpha-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:27436	\N	\N	"" []	CHEBI:27436	"" []	62180	\N	\N	EFO	0	EFO	methyltestosterone	methyltestosterone
CHEBI:37577	CHEBI:27436	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27436	"" []	201582	\N	\N	EFO	1	EFO	chemical compound	methyltestosterone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27436	"" []	554491	\N	\N	EFO	2	EFO	chemical entity	methyltestosterone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27436	"" []	1137195	\N	\N	EFO	3	EFO	material entity	methyltestosterone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27436	"" []	2020343	\N	\N	EFO	4	EFO	experimental factor	methyltestosterone
CHEBI:27470	\N	\N	"" []	CHEBI:27470	"" []	62181	\N	\N	EFO	0	EFO	folic acid	folic acid
EFO:0004416	CHEBI:27470	\N	"" []	CHEBI:27470	"" []	201583	\N	\N	EFO	1	EFO	acid	folic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27470	"" []	554492	\N	\N	EFO	2	EFO	chemical compound	folic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27470	"" []	1137196	\N	\N	EFO	3	EFO	chemical entity	folic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27470	"" []	2020344	\N	\N	EFO	4	EFO	material entity	folic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27470	"" []	3175410	\N	\N	EFO	5	EFO	experimental factor	folic acid
CHEBI:27504	\N	\N	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	CHEBI:27504	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	62182	\N	\N	EFO	0	EFO	mitomycin C	mitomycin C
CHEBI:37577	CHEBI:27504	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27504	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	201584	\N	\N	EFO	1	EFO	chemical compound	mitomycin C
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27504	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	554493	\N	\N	EFO	2	EFO	chemical entity	mitomycin C
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27504	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	1137197	\N	\N	EFO	3	EFO	material entity	mitomycin C
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27504	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	2020345	\N	\N	EFO	4	EFO	experimental factor	mitomycin C
CHEBI:27561	\N	\N	"" []	CHEBI:27561	"" []	62183	\N	\N	EFO	0	EFO	oxirane	oxirane
CHEBI:37577	CHEBI:27561	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27561	"" []	201585	\N	\N	EFO	1	EFO	chemical compound	oxirane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27561	"" []	554494	\N	\N	EFO	2	EFO	chemical entity	oxirane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27561	"" []	1137198	\N	\N	EFO	3	EFO	material entity	oxirane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27561	"" []	2020346	\N	\N	EFO	4	EFO	experimental factor	oxirane
CHEBI:27563	\N	\N	"A pnictogen that has formula As." []	CHEBI:27563	"A pnictogen that has formula As." []	62184	\N	\N	EFO	0	EFO	arsenic	arsenic
CHEBI:33250	CHEBI:27563	\N	"" []	CHEBI:27563	"A pnictogen that has formula As." []	201586	\N	\N	EFO	1	EFO	element	arsenic
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:27563	"A pnictogen that has formula As." []	554495	\N	\N	EFO	2	EFO	chemical entity	arsenic
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27563	"A pnictogen that has formula As." []	1137199	\N	\N	EFO	3	EFO	material entity	arsenic
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27563	"A pnictogen that has formula As." []	2020347	\N	\N	EFO	4	EFO	experimental factor	arsenic
CHEBI:27568	\N	\N	"A chalcogen that has formula Se." []	CHEBI:27568	"A chalcogen that has formula Se." []	62185	\N	\N	EFO	0	EFO	selenium	selenium
CHEBI:33250	CHEBI:27568	\N	"" []	CHEBI:27568	"A chalcogen that has formula Se." []	201587	\N	\N	EFO	1	EFO	element	selenium
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:27568	"A chalcogen that has formula Se." []	554496	\N	\N	EFO	2	EFO	chemical entity	selenium
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27568	"A chalcogen that has formula Se." []	1137200	\N	\N	EFO	3	EFO	material entity	selenium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27568	"A chalcogen that has formula Se." []	2020348	\N	\N	EFO	4	EFO	experimental factor	selenium
CHEBI:27573	\N	\N	"A carbon group element that has formula Si." []	CHEBI:27573	"A carbon group element that has formula Si." []	62186	\N	\N	EFO	0	EFO	silicon	silicon
CHEBI:33250	CHEBI:27573	\N	"" []	CHEBI:27573	"A carbon group element that has formula Si." []	201588	\N	\N	EFO	1	EFO	element	silicon
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:27573	"A carbon group element that has formula Si." []	554497	\N	\N	EFO	2	EFO	chemical entity	silicon
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27573	"A carbon group element that has formula Si." []	1137201	\N	\N	EFO	3	EFO	material entity	silicon
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27573	"A carbon group element that has formula Si." []	2020349	\N	\N	EFO	4	EFO	experimental factor	silicon
CHEBI:27584	\N	\N	"A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney." []	CHEBI:27584	"A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney." []	62187	\N	\N	EFO	0	EFO	aldosterone	aldosterone
CHEBI:37577	CHEBI:27584	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27584	"A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney." []	201589	\N	\N	EFO	1	EFO	chemical compound	aldosterone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27584	"A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney." []	554498	\N	\N	EFO	2	EFO	chemical entity	aldosterone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27584	"A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney." []	1137202	\N	\N	EFO	3	EFO	material entity	aldosterone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27584	"A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney." []	2020350	\N	\N	EFO	4	EFO	experimental factor	aldosterone
CHEBI:27594	\N	\N	"A carbon group element atom that has formula C." []	CHEBI:27594	"A carbon group element atom that has formula C." []	62188	\N	\N	EFO	0	EFO	carbon	carbon
CHEBI:33250	CHEBI:27594	\N	"" []	CHEBI:27594	"A carbon group element atom that has formula C." []	201590	\N	\N	EFO	1	EFO	element	carbon
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:27594	"A carbon group element atom that has formula C." []	554499	\N	\N	EFO	2	EFO	chemical entity	carbon
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27594	"A carbon group element atom that has formula C." []	1137203	\N	\N	EFO	3	EFO	material entity	carbon
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27594	"A carbon group element atom that has formula C." []	2020351	\N	\N	EFO	4	EFO	experimental factor	carbon
CHEBI:27617	\N	\N	"" []	CHEBI:27617	"" []	62189	\N	\N	EFO	0	EFO	monensin A	monensin A
CHEBI:37577	CHEBI:27617	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27617	"" []	201591	\N	\N	EFO	1	EFO	chemical compound	monensin A
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27617	"" []	554500	\N	\N	EFO	2	EFO	chemical entity	monensin A
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27617	"" []	1137204	\N	\N	EFO	3	EFO	material entity	monensin A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27617	"" []	2020352	\N	\N	EFO	4	EFO	experimental factor	monensin A
CHEBI:27641	\N	\N	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	CHEBI:27641	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	62190	\N	\N	EFO	0	EFO	cycloheximide	cycloheximide
CHEBI:37577	CHEBI:27641	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27641	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	201592	\N	\N	EFO	1	EFO	chemical compound	cycloheximide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27641	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	554501	\N	\N	EFO	2	EFO	chemical entity	cycloheximide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27641	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	1137205	\N	\N	EFO	3	EFO	material entity	cycloheximide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27641	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	2020353	\N	\N	EFO	4	EFO	experimental factor	cycloheximide
CHEBI:27656	\N	\N	"A pyranoindolizinoquinoline that has formula C20H16N2O4." []	CHEBI:27656	"A pyranoindolizinoquinoline that has formula C20H16N2O4." []	62191	\N	\N	EFO	0	EFO	camptothecin	camptothecin
CHEBI:23888	CHEBI:27656	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:27656	"A pyranoindolizinoquinoline that has formula C20H16N2O4." []	201593	\N	\N	EFO	1	EFO	drug	camptothecin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27656	"A pyranoindolizinoquinoline that has formula C20H16N2O4." []	554502	\N	\N	EFO	2	EFO	chemical compound	camptothecin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27656	"A pyranoindolizinoquinoline that has formula C20H16N2O4." []	1137206	\N	\N	EFO	3	EFO	chemical entity	camptothecin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27656	"A pyranoindolizinoquinoline that has formula C20H16N2O4." []	2020354	\N	\N	EFO	4	EFO	material entity	camptothecin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27656	"A pyranoindolizinoquinoline that has formula C20H16N2O4." []	3175411	\N	\N	EFO	5	EFO	experimental factor	camptothecin
CHEBI:2766	\N	\N	"" []	CHEBI:2766	"" []	62192	\N	\N	EFO	0	EFO	aphidicolin	aphidicolin
CHEBI:37577	CHEBI:2766	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2766	"" []	201594	\N	\N	EFO	1	EFO	chemical compound	aphidicolin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2766	"" []	554503	\N	\N	EFO	2	EFO	chemical entity	aphidicolin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2766	"" []	1137207	\N	\N	EFO	3	EFO	material entity	aphidicolin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2766	"" []	2020355	\N	\N	EFO	4	EFO	experimental factor	aphidicolin
CHEBI:27666	\N	\N	"An actinomycin that has formula C62H86N12O16." []	CHEBI:27666	"An actinomycin that has formula C62H86N12O16." []	62193	\N	\N	EFO	0	EFO	actinomycin D	actinomycin D
CHEBI:37577	CHEBI:27666	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27666	"An actinomycin that has formula C62H86N12O16." []	201595	\N	\N	EFO	1	EFO	chemical compound	actinomycin D
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27666	"An actinomycin that has formula C62H86N12O16." []	554504	\N	\N	EFO	2	EFO	chemical entity	actinomycin D
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27666	"An actinomycin that has formula C62H86N12O16." []	1137208	\N	\N	EFO	3	EFO	material entity	actinomycin D
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27666	"An actinomycin that has formula C62H86N12O16." []	2020356	\N	\N	EFO	4	EFO	experimental factor	actinomycin D
CHEBI:27690	\N	\N	"" []	CHEBI:27690	"" []	62194	\N	\N	EFO	0	EFO	acetazolamide	acetazolamide
CHEBI:37577	CHEBI:27690	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27690	"" []	201596	\N	\N	EFO	1	EFO	chemical compound	acetazolamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27690	"" []	554505	\N	\N	EFO	2	EFO	chemical entity	acetazolamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27690	"" []	1137209	\N	\N	EFO	3	EFO	material entity	acetazolamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27690	"" []	2020357	\N	\N	EFO	4	EFO	experimental factor	acetazolamide
CHEBI:27698	\N	\N	"A vanadium group element that has formula V." []	CHEBI:27698	"A vanadium group element that has formula V." []	62195	\N	\N	EFO	0	EFO	Vanadium	Vanadium
CHEBI:33250	CHEBI:27698	\N	"" []	CHEBI:27698	"A vanadium group element that has formula V." []	201597	\N	\N	EFO	1	EFO	element	Vanadium
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:27698	"A vanadium group element that has formula V." []	554506	\N	\N	EFO	2	EFO	chemical entity	Vanadium
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27698	"A vanadium group element that has formula V." []	1137210	\N	\N	EFO	3	EFO	material entity	Vanadium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27698	"A vanadium group element that has formula V." []	2020358	\N	\N	EFO	4	EFO	experimental factor	Vanadium
CHEBI:27732	\N	\N	"A trimethylxanthine that has formula C8H10N4O2." []	CHEBI:27732	"A trimethylxanthine that has formula C8H10N4O2." []	62196	\N	\N	EFO	0	EFO	caffeine	caffeine
CHEBI:37577	CHEBI:27732	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27732	"A trimethylxanthine that has formula C8H10N4O2." []	201598	\N	\N	EFO	1	EFO	chemical compound	caffeine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27732	"A trimethylxanthine that has formula C8H10N4O2." []	554507	\N	\N	EFO	2	EFO	chemical entity	caffeine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27732	"A trimethylxanthine that has formula C8H10N4O2." []	1137211	\N	\N	EFO	3	EFO	material entity	caffeine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27732	"A trimethylxanthine that has formula C8H10N4O2." []	2020359	\N	\N	EFO	4	EFO	experimental factor	caffeine
CHEBI:27744	\N	\N	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	CHEBI:27744	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	62197	\N	\N	EFO	0	EFO	glyphosate	glyphosate
CHEBI:37577	CHEBI:27744	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27744	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	201599	\N	\N	EFO	1	EFO	chemical compound	glyphosate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27744	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	554508	\N	\N	EFO	2	EFO	chemical entity	glyphosate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27744	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	1137212	\N	\N	EFO	3	EFO	material entity	glyphosate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27744	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	2020360	\N	\N	EFO	4	EFO	experimental factor	glyphosate
CHEBI:27779	\N	\N	"" []	CHEBI:27779	"" []	62198	\N	\N	EFO	0	EFO	griseofulvin	griseofulvin
CHEBI:37577	CHEBI:27779	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27779	"" []	201600	\N	\N	EFO	1	EFO	chemical compound	griseofulvin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27779	"" []	554509	\N	\N	EFO	2	EFO	chemical entity	griseofulvin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27779	"" []	1137213	\N	\N	EFO	3	EFO	material entity	griseofulvin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27779	"" []	2020361	\N	\N	EFO	4	EFO	experimental factor	griseofulvin
CHEBI:27780	\N	\N	"A surfactant (or a mixture containing one or more surfactants) having cleaning properties in dilute solutions." []	CHEBI:27780	"A surfactant (or a mixture containing one or more surfactants) having cleaning properties in dilute solutions." []	62199	\N	\N	EFO	0	EFO	detergent role	detergent role
CHEBI:51086	CHEBI:27780	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:27780	"A surfactant (or a mixture containing one or more surfactants) having cleaning properties in dilute solutions." []	201601	\N	\N	EFO	1	EFO	chemical role	detergent role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:27780	"A surfactant (or a mixture containing one or more surfactants) having cleaning properties in dilute solutions." []	554510	\N	\N	EFO	2	EFO	role	detergent role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:27780	"A surfactant (or a mixture containing one or more surfactants) having cleaning properties in dilute solutions." []	1137214	\N	\N	EFO	3	EFO	material property	detergent role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27780	"A surfactant (or a mixture containing one or more surfactants) having cleaning properties in dilute solutions." []	2020362	\N	\N	EFO	4	EFO	experimental factor	detergent role
CHEBI:27823	\N	\N	"A member of the class of indole-3-acetic acids that is indole-3-acetic acid substituted by a hydroxy group at C-5 and a serotonin metabolite." []	CHEBI:27823	"A member of the class of indole-3-acetic acids that is indole-3-acetic acid substituted by a hydroxy group at C-5 and a serotonin metabolite." []	62200	\N	\N	EFO	0	EFO	5-HIAA	5-HIAA
CHEBI:24532	CHEBI:27823	\N	"" []	CHEBI:27823	"A member of the class of indole-3-acetic acids that is indole-3-acetic acid substituted by a hydroxy group at C-5 and a serotonin metabolite." []	201602	\N	\N	EFO	1	EFO	organic heterocyclic compound	5-HIAA
CHEBI:37577	CHEBI:24532	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27823	"A member of the class of indole-3-acetic acids that is indole-3-acetic acid substituted by a hydroxy group at C-5 and a serotonin metabolite." []	554511	\N	\N	EFO	2	EFO	chemical compound	5-HIAA
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27823	"A member of the class of indole-3-acetic acids that is indole-3-acetic acid substituted by a hydroxy group at C-5 and a serotonin metabolite." []	1137215	\N	\N	EFO	3	EFO	chemical entity	5-HIAA
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27823	"A member of the class of indole-3-acetic acids that is indole-3-acetic acid substituted by a hydroxy group at C-5 and a serotonin metabolite." []	2020363	\N	\N	EFO	4	EFO	material entity	5-HIAA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27823	"A member of the class of indole-3-acetic acids that is indole-3-acetic acid substituted by a hydroxy group at C-5 and a serotonin metabolite." []	3175412	\N	\N	EFO	5	EFO	experimental factor	5-HIAA
CHEBI:27881	\N	\N	"A stilbenol that has formula C14H12O3." []	CHEBI:27881	"A stilbenol that has formula C14H12O3." []	62201	\N	\N	EFO	0	EFO	resveratrol	resveratrol
CHEBI:37577	CHEBI:27881	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27881	"A stilbenol that has formula C14H12O3." []	201603	\N	\N	EFO	1	EFO	chemical compound	resveratrol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27881	"A stilbenol that has formula C14H12O3." []	554512	\N	\N	EFO	2	EFO	chemical entity	resveratrol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27881	"A stilbenol that has formula C14H12O3." []	1137216	\N	\N	EFO	3	EFO	material entity	resveratrol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27881	"A stilbenol that has formula C14H12O3." []	2020364	\N	\N	EFO	4	EFO	experimental factor	resveratrol
CHEBI:27899	\N	\N	"" []	CHEBI:27899	"" []	62202	\N	\N	EFO	0	EFO	cisplatin	cisplatin
CHEBI:23888	CHEBI:27899	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:27899	"" []	201604	\N	\N	EFO	1	EFO	drug	cisplatin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27899	"" []	554513	\N	\N	EFO	2	EFO	chemical compound	cisplatin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27899	"" []	1137217	\N	\N	EFO	3	EFO	chemical entity	cisplatin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27899	"" []	2020365	\N	\N	EFO	4	EFO	material entity	cisplatin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27899	"" []	3175413	\N	\N	EFO	5	EFO	experimental factor	cisplatin
CHEBI:27902	\N	\N	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	CHEBI:27902	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	62203	\N	\N	EFO	0	EFO	tetracycline	tetracycline
CHEBI:37577	CHEBI:27902	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27902	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	201605	\N	\N	EFO	1	EFO	chemical compound	tetracycline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27902	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	554514	\N	\N	EFO	2	EFO	chemical entity	tetracycline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27902	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	1137218	\N	\N	EFO	3	EFO	material entity	tetracycline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27902	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	2020366	\N	\N	EFO	4	EFO	experimental factor	tetracycline
CHEBI:27958	\N	\N	"An alkaloid obtained from leaves of the South American shrub Erythroxylon coca." []	CHEBI:27958	"An alkaloid obtained from leaves of the South American shrub Erythroxylon coca." []	62204	\N	\N	EFO	0	EFO	cocaine	cocaine
CHEBI:23888	CHEBI:27958	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:27958	"An alkaloid obtained from leaves of the South American shrub Erythroxylon coca." []	201606	\N	\N	EFO	1	EFO	drug	cocaine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27958	"An alkaloid obtained from leaves of the South American shrub Erythroxylon coca." []	554515	\N	\N	EFO	2	EFO	chemical compound	cocaine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27958	"An alkaloid obtained from leaves of the South American shrub Erythroxylon coca." []	1137219	\N	\N	EFO	3	EFO	chemical entity	cocaine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27958	"An alkaloid obtained from leaves of the South American shrub Erythroxylon coca." []	2020367	\N	\N	EFO	4	EFO	material entity	cocaine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27958	"An alkaloid obtained from leaves of the South American shrub Erythroxylon coca." []	3175414	\N	\N	EFO	5	EFO	experimental factor	cocaine
CHEBI:27995	\N	\N	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	CHEBI:27995	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	62205	\N	\N	EFO	0	EFO	3-methylbenzyl alcohol	3-methylbenzyl alcohol
CHEBI:37577	CHEBI:27995	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27995	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	201607	\N	\N	EFO	1	EFO	chemical compound	3-methylbenzyl alcohol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27995	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	554516	\N	\N	EFO	2	EFO	chemical entity	3-methylbenzyl alcohol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27995	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	1137220	\N	\N	EFO	3	EFO	material entity	3-methylbenzyl alcohol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27995	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	2020368	\N	\N	EFO	4	EFO	experimental factor	3-methylbenzyl alcohol
CHEBI:27999	\N	\N	"An urea that has formula C12H18N2O3S." []	CHEBI:27999	"An urea that has formula C12H18N2O3S." []	62206	\N	\N	EFO	0	EFO	tolbutamide	tolbutamide
CHEBI:37577	CHEBI:27999	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:27999	"An urea that has formula C12H18N2O3S." []	201608	\N	\N	EFO	1	EFO	chemical compound	tolbutamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:27999	"An urea that has formula C12H18N2O3S." []	554517	\N	\N	EFO	2	EFO	chemical entity	tolbutamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:27999	"An urea that has formula C12H18N2O3S." []	1137221	\N	\N	EFO	3	EFO	material entity	tolbutamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:27999	"An urea that has formula C12H18N2O3S." []	2020369	\N	\N	EFO	4	EFO	experimental factor	tolbutamide
CHEBI:28001	\N	\N	"The tooth, teeth, or implant that supports a fixed bridge or removable prosthesis." []	CHEBI:28001	"The tooth, teeth, or implant that supports a fixed bridge or removable prosthesis." []	62207	\N	\N	EFO	0	EFO	vancomycin	vancomycin
CHEBI:33281	\N	\N	"A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans." []	CHEBI:28001	"The tooth, teeth, or implant that supports a fixed bridge or removable prosthesis." []	194024	\N	\N	EFO	0	EFO	antimicrobial agent	vancomycin
CHEBI:37577	CHEBI:28001	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28001	"The tooth, teeth, or implant that supports a fixed bridge or removable prosthesis." []	201609	\N	\N	EFO	1	EFO	chemical compound	vancomycin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28001	"The tooth, teeth, or implant that supports a fixed bridge or removable prosthesis." []	554518	\N	\N	EFO	2	EFO	chemical entity	vancomycin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28001	"The tooth, teeth, or implant that supports a fixed bridge or removable prosthesis." []	1137222	\N	\N	EFO	3	EFO	material entity	vancomycin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28001	"The tooth, teeth, or implant that supports a fixed bridge or removable prosthesis." []	2020370	\N	\N	EFO	4	EFO	experimental factor	vancomycin
CHEBI:28044	\N	\N	"" []	CHEBI:28044	"" []	62208	\N	\N	EFO	0	EFO	phenylalanine	phenylalanine
CHEBI:33709	CHEBI:28044	\N	"" []	CHEBI:28044	"" []	201610	\N	\N	EFO	1	EFO	amino acid	phenylalanine
EFO:0004416	CHEBI:33709	\N	"" []	CHEBI:28044	"" []	554519	\N	\N	EFO	2	EFO	acid	phenylalanine
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28044	"" []	1137223	\N	\N	EFO	3	EFO	chemical compound	phenylalanine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28044	"" []	2020371	\N	\N	EFO	4	EFO	chemical entity	phenylalanine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28044	"" []	3175415	\N	\N	EFO	5	EFO	material entity	phenylalanine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28044	"" []	4386528	\N	\N	EFO	6	EFO	experimental factor	phenylalanine
CHEBI:28073	\N	\N	"A chromium group element that has formula Cr." []	CHEBI:28073	"A chromium group element that has formula Cr." []	62209	\N	\N	EFO	0	EFO	chromium	chromium
CHEBI:33250	CHEBI:28073	\N	"" []	CHEBI:28073	"A chromium group element that has formula Cr." []	201611	\N	\N	EFO	1	EFO	element	chromium
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:28073	"A chromium group element that has formula Cr." []	554520	\N	\N	EFO	2	EFO	chemical entity	chromium
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28073	"A chromium group element that has formula Cr." []	1137224	\N	\N	EFO	3	EFO	material entity	chromium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28073	"A chromium group element that has formula Cr." []	2020372	\N	\N	EFO	4	EFO	experimental factor	chromium
CHEBI:28077	\N	\N	"A N-iminopiperazine that has formula C43H58N4O12." []	CHEBI:28077	"A N-iminopiperazine that has formula C43H58N4O12." []	62210	\N	\N	EFO	0	EFO	rifampicin	rifampicin
CHEBI:37577	CHEBI:28077	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28077	"A N-iminopiperazine that has formula C43H58N4O12." []	201612	\N	\N	EFO	1	EFO	chemical compound	rifampicin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28077	"A N-iminopiperazine that has formula C43H58N4O12." []	554521	\N	\N	EFO	2	EFO	chemical entity	rifampicin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28077	"A N-iminopiperazine that has formula C43H58N4O12." []	1137225	\N	\N	EFO	3	EFO	material entity	rifampicin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28077	"A N-iminopiperazine that has formula C43H58N4O12." []	2020373	\N	\N	EFO	4	EFO	experimental factor	rifampicin
CHEBI:28088	\N	\N	"A phytoestrogenic isoflavone with antioxidant properties." []	CHEBI:28088	"A phytoestrogenic isoflavone with antioxidant properties." []	62211	\N	\N	EFO	0	EFO	genistein	genistein
CHEBI:37577	CHEBI:28088	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28088	"A phytoestrogenic isoflavone with antioxidant properties." []	201613	\N	\N	EFO	1	EFO	chemical compound	genistein
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28088	"A phytoestrogenic isoflavone with antioxidant properties." []	554522	\N	\N	EFO	2	EFO	chemical entity	genistein
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28088	"A phytoestrogenic isoflavone with antioxidant properties." []	1137226	\N	\N	EFO	3	EFO	material entity	genistein
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28088	"A phytoestrogenic isoflavone with antioxidant properties." []	2020374	\N	\N	EFO	4	EFO	experimental factor	genistein
CHEBI:28119	\N	\N	"" []	CHEBI:28119	"" []	62212	\N	\N	EFO	0	EFO	2,3,7,8-tetrachlorodibenzodioxine	2,3,7,8-tetrachlorodibenzodioxine
CHEBI:37577	CHEBI:28119	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28119	"" []	201614	\N	\N	EFO	1	EFO	chemical compound	2,3,7,8-tetrachlorodibenzodioxine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28119	"" []	554523	\N	\N	EFO	2	EFO	chemical entity	2,3,7,8-tetrachlorodibenzodioxine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28119	"" []	1137227	\N	\N	EFO	3	EFO	material entity	2,3,7,8-tetrachlorodibenzodioxine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28119	"" []	2020375	\N	\N	EFO	4	EFO	experimental factor	2,3,7,8-tetrachlorodibenzodioxine
CHEBI:28125	\N	\N	"" []	CHEBI:28125	"" []	62213	\N	\N	EFO	0	EFO	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
CHEBI:23888	CHEBI:28125	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:28125	"" []	201615	\N	\N	EFO	1	EFO	drug	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
CHEBI:36005	CHEBI:28125	\N	"Any C22 polyunsaturated fatty acid containing six double bonds." []	CHEBI:28125	"" []	201616	\N	\N	EFO	1	EFO	docosahexaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28125	"" []	554524	\N	\N	EFO	2	EFO	chemical compound	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
CHEBI:35366	CHEBI:36005	\N	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	CHEBI:28125	"" []	554525	\N	\N	EFO	2	EFO	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28125	"" []	3175417	\N	\N	EFO	5	EFO	chemical entity	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
CHEBI:18059	CHEBI:35366	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:28125	"" []	1137229	\N	\N	EFO	3	EFO	lipid	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
EFO:0004416	CHEBI:35366	\N	"" []	CHEBI:28125	"" []	1137230	\N	\N	EFO	3	EFO	acid	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28125	"" []	4066650	\N	\N	EFO	6	EFO	material entity	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28125	"" []	2020377	\N	\N	EFO	4	EFO	chemical compound	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28125	"" []	2020378	\N	\N	EFO	4	EFO	chemical compound	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28125	"" []	5059261	\N	\N	EFO	7	EFO	experimental factor	all-cis-docosa-4,7,10,13,16,19-hexaenoic acid
CHEBI:28135	\N	\N	"A 14alpha-hydroxy steroid that has formula C27H44O6." []	CHEBI:28135	"A 14alpha-hydroxy steroid that has formula C27H44O6." []	62214	\N	\N	EFO	0	EFO	ponasterone A	ponasterone A
CHEBI:37577	CHEBI:28135	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28135	"A 14alpha-hydroxy steroid that has formula C27H44O6." []	201617	\N	\N	EFO	1	EFO	chemical compound	ponasterone A
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28135	"A 14alpha-hydroxy steroid that has formula C27H44O6." []	554526	\N	\N	EFO	2	EFO	chemical entity	ponasterone A
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28135	"A 14alpha-hydroxy steroid that has formula C27H44O6." []	1137231	\N	\N	EFO	3	EFO	material entity	ponasterone A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28135	"A 14alpha-hydroxy steroid that has formula C27H44O6." []	2020379	\N	\N	EFO	4	EFO	experimental factor	ponasterone A
CHEBI:28177	\N	\N	"" []	CHEBI:28177	"" []	62215	\N	\N	EFO	0	EFO	theophylline	theophylline
CHEBI:37577	CHEBI:28177	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28177	"" []	201618	\N	\N	EFO	1	EFO	chemical compound	theophylline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28177	"" []	554527	\N	\N	EFO	2	EFO	chemical entity	theophylline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28177	"" []	1137232	\N	\N	EFO	3	EFO	material entity	theophylline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28177	"" []	2020380	\N	\N	EFO	4	EFO	experimental factor	theophylline
CHEBI:28201	\N	\N	"A chromenone that has formula C23H22O6." []	CHEBI:28201	"A chromenone that has formula C23H22O6." []	62216	\N	\N	EFO	0	EFO	rotenone	rotenone
CHEBI:37577	CHEBI:28201	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28201	"A chromenone that has formula C23H22O6." []	201619	\N	\N	EFO	1	EFO	chemical compound	rotenone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28201	"A chromenone that has formula C23H22O6." []	554528	\N	\N	EFO	2	EFO	chemical entity	rotenone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28201	"A chromenone that has formula C23H22O6." []	1137233	\N	\N	EFO	3	EFO	material entity	rotenone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28201	"A chromenone that has formula C23H22O6." []	2020381	\N	\N	EFO	4	EFO	experimental factor	rotenone
CHEBI:28216	\N	\N	"A chlorine molecular entity that has formula CH3ClHg." []	CHEBI:28216	"A chlorine molecular entity that has formula CH3ClHg." []	62217	\N	\N	EFO	0	EFO	methyl mercuric(II) chloride	methyl mercuric(II) chloride
EFO:0004415	CHEBI:28216	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:28216	"A chlorine molecular entity that has formula CH3ClHg." []	201620	\N	\N	EFO	1	EFO	ionic salt	methyl mercuric(II) chloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28216	"A chlorine molecular entity that has formula CH3ClHg." []	554529	\N	\N	EFO	2	EFO	chemical compound	methyl mercuric(II) chloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28216	"A chlorine molecular entity that has formula CH3ClHg." []	1137234	\N	\N	EFO	3	EFO	chemical entity	methyl mercuric(II) chloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28216	"A chlorine molecular entity that has formula CH3ClHg." []	2020382	\N	\N	EFO	4	EFO	material entity	methyl mercuric(II) chloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28216	"A chlorine molecular entity that has formula CH3ClHg." []	3175418	\N	\N	EFO	5	EFO	experimental factor	methyl mercuric(II) chloride
CHEBI:28240	\N	\N	"" []	CHEBI:28240	"" []	62218	\N	\N	EFO	0	EFO	dichloroacetate	dichloroacetate
CHEBI:37577	CHEBI:28240	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28240	"" []	201621	\N	\N	EFO	1	EFO	chemical compound	dichloroacetate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28240	"" []	554530	\N	\N	EFO	2	EFO	chemical entity	dichloroacetate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28240	"" []	1137235	\N	\N	EFO	3	EFO	material entity	dichloroacetate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28240	"" []	2020383	\N	\N	EFO	4	EFO	experimental factor	dichloroacetate
CHEBI:28241	\N	\N	"" []	CHEBI:28241	"" []	62219	\N	\N	EFO	0	EFO	papaverine	papaverine
CHEBI:37577	CHEBI:28241	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28241	"" []	201622	\N	\N	EFO	1	EFO	chemical compound	papaverine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28241	"" []	554531	\N	\N	EFO	2	EFO	chemical entity	papaverine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28241	"" []	1137236	\N	\N	EFO	3	EFO	material entity	papaverine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28241	"" []	2020384	\N	\N	EFO	4	EFO	experimental factor	papaverine
CHEBI:2825	\N	\N	"" []	CHEBI:2825	"" []	62220	\N	\N	EFO	0	EFO	aristolochic acid	aristolochic acid
EFO:0004416	CHEBI:2825	\N	"" []	CHEBI:2825	"" []	201623	\N	\N	EFO	1	EFO	acid	aristolochic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2825	"" []	554532	\N	\N	EFO	2	EFO	chemical compound	aristolochic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2825	"" []	1137237	\N	\N	EFO	3	EFO	chemical entity	aristolochic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2825	"" []	2020385	\N	\N	EFO	4	EFO	material entity	aristolochic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2825	"" []	3175419	\N	\N	EFO	5	EFO	experimental factor	aristolochic acid
CHEBI:28262	\N	\N	"" []	CHEBI:28262	"" []	62221	\N	\N	EFO	0	EFO	dimethyl sulfoxide	dimethyl sulfoxide
CHEBI:37577	CHEBI:28262	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28262	"" []	201624	\N	\N	EFO	1	EFO	chemical compound	dimethyl sulfoxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28262	"" []	554533	\N	\N	EFO	2	EFO	chemical entity	dimethyl sulfoxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28262	"" []	1137238	\N	\N	EFO	3	EFO	material entity	dimethyl sulfoxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28262	"" []	2020386	\N	\N	EFO	4	EFO	experimental factor	dimethyl sulfoxide
CHEBI:28277	\N	\N	"A brassinosteroid that has formula C28H48O6." []	CHEBI:28277	"A brassinosteroid that has formula C28H48O6." []	62222	\N	\N	EFO	0	EFO	brassinolide	brassinolide
CHEBI:37577	CHEBI:28277	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28277	"A brassinosteroid that has formula C28H48O6." []	201625	\N	\N	EFO	1	EFO	chemical compound	brassinolide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28277	"A brassinosteroid that has formula C28H48O6." []	554534	\N	\N	EFO	2	EFO	chemical entity	brassinolide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28277	"A brassinosteroid that has formula C28H48O6." []	1137239	\N	\N	EFO	3	EFO	material entity	brassinolide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28277	"A brassinosteroid that has formula C28H48O6." []	2020387	\N	\N	EFO	4	EFO	experimental factor	brassinolide
CHEBI:28285	\N	\N	"" []	CHEBI:28285	"" []	62223	\N	\N	EFO	0	EFO	oligomycin A	oligomycin A
CHEBI:37577	CHEBI:28285	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28285	"" []	201626	\N	\N	EFO	1	EFO	chemical compound	oligomycin A
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28285	"" []	554535	\N	\N	EFO	2	EFO	chemical entity	oligomycin A
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28285	"" []	1137240	\N	\N	EFO	3	EFO	material entity	oligomycin A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28285	"" []	2020388	\N	\N	EFO	4	EFO	experimental factor	oligomycin A
CHEBI:28300	\N	\N	"An alpha-amino acid that has formula C5H10N2O3." []	CHEBI:28300	"An alpha-amino acid that has formula C5H10N2O3." []	62224	\N	\N	EFO	0	EFO	glutamine	glutamine
CHEBI:33709	CHEBI:28300	\N	"" []	CHEBI:28300	"An alpha-amino acid that has formula C5H10N2O3." []	201627	\N	\N	EFO	1	EFO	amino acid	glutamine
EFO:0004416	CHEBI:33709	\N	"" []	CHEBI:28300	"An alpha-amino acid that has formula C5H10N2O3." []	554536	\N	\N	EFO	2	EFO	acid	glutamine
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28300	"An alpha-amino acid that has formula C5H10N2O3." []	1137241	\N	\N	EFO	3	EFO	chemical compound	glutamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28300	"An alpha-amino acid that has formula C5H10N2O3." []	2020389	\N	\N	EFO	4	EFO	chemical entity	glutamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28300	"An alpha-amino acid that has formula C5H10N2O3." []	3175420	\N	\N	EFO	5	EFO	material entity	glutamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28300	"An alpha-amino acid that has formula C5H10N2O3." []	4386529	\N	\N	EFO	6	EFO	experimental factor	glutamine
CHEBI:28364	\N	\N	"An icosapentaenoic acid that has formula C20H30O2." []	CHEBI:28364	"An icosapentaenoic acid that has formula C20H30O2." []	62225	\N	\N	EFO	0	EFO	all-cis-icosa-5,8,11,14,17-pentaenoic acid	all-cis-icosa-5,8,11,14,17-pentaenoic acid
CHEBI:36006	CHEBI:28364	\N	"Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds." []	CHEBI:28364	"An icosapentaenoic acid that has formula C20H30O2." []	201628	\N	\N	EFO	1	EFO	icosapentaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	all-cis-icosa-5,8,11,14,17-pentaenoic acid
CHEBI:35366	CHEBI:36006	\N	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	CHEBI:28364	"An icosapentaenoic acid that has formula C20H30O2." []	554537	\N	\N	EFO	2	EFO	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	all-cis-icosa-5,8,11,14,17-pentaenoic acid
CHEBI:18059	CHEBI:35366	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:28364	"An icosapentaenoic acid that has formula C20H30O2." []	1137242	\N	\N	EFO	3	EFO	lipid	all-cis-icosa-5,8,11,14,17-pentaenoic acid
EFO:0004416	CHEBI:35366	\N	"" []	CHEBI:28364	"An icosapentaenoic acid that has formula C20H30O2." []	1137243	\N	\N	EFO	3	EFO	acid	all-cis-icosa-5,8,11,14,17-pentaenoic acid
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28364	"An icosapentaenoic acid that has formula C20H30O2." []	2020390	\N	\N	EFO	4	EFO	chemical compound	all-cis-icosa-5,8,11,14,17-pentaenoic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28364	"An icosapentaenoic acid that has formula C20H30O2." []	2020391	\N	\N	EFO	4	EFO	chemical compound	all-cis-icosa-5,8,11,14,17-pentaenoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28364	"An icosapentaenoic acid that has formula C20H30O2." []	3175421	\N	\N	EFO	5	EFO	chemical entity	all-cis-icosa-5,8,11,14,17-pentaenoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28364	"An icosapentaenoic acid that has formula C20H30O2." []	4386530	\N	\N	EFO	6	EFO	material entity	all-cis-icosa-5,8,11,14,17-pentaenoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28364	"An icosapentaenoic acid that has formula C20H30O2." []	5407760	\N	\N	EFO	7	EFO	experimental factor	all-cis-icosa-5,8,11,14,17-pentaenoic acid
CHEBI:28368	\N	\N	"" []	CHEBI:28368	"" []	62226	\N	\N	EFO	0	EFO	novobiocin	novobiocin
CHEBI:37577	CHEBI:28368	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28368	"" []	201629	\N	\N	EFO	1	EFO	chemical compound	novobiocin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28368	"" []	554538	\N	\N	EFO	2	EFO	chemical entity	novobiocin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28368	"" []	1137244	\N	\N	EFO	3	EFO	material entity	novobiocin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28368	"" []	2020392	\N	\N	EFO	4	EFO	experimental factor	novobiocin
CHEBI:28445	\N	\N	"A vinca alkaloid that has formula C46H56N4O10." []	CHEBI:28445	"A vinca alkaloid that has formula C46H56N4O10." []	62227	\N	\N	EFO	0	EFO	vincristine	vincristine
CHEBI:23888	CHEBI:28445	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:28445	"A vinca alkaloid that has formula C46H56N4O10." []	201630	\N	\N	EFO	1	EFO	drug	vincristine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28445	"A vinca alkaloid that has formula C46H56N4O10." []	554539	\N	\N	EFO	2	EFO	chemical compound	vincristine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28445	"A vinca alkaloid that has formula C46H56N4O10." []	1137245	\N	\N	EFO	3	EFO	chemical entity	vincristine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28445	"A vinca alkaloid that has formula C46H56N4O10." []	2020393	\N	\N	EFO	4	EFO	material entity	vincristine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28445	"A vinca alkaloid that has formula C46H56N4O10." []	3175422	\N	\N	EFO	5	EFO	experimental factor	vincristine
CHEBI:28462	\N	\N	"" []	CHEBI:28462	"" []	62228	\N	\N	EFO	0	EFO	ajmaline	ajmaline
CHEBI:37577	CHEBI:28462	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28462	"" []	201631	\N	\N	EFO	1	EFO	chemical compound	ajmaline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28462	"" []	554540	\N	\N	EFO	2	EFO	chemical entity	ajmaline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28462	"" []	1137246	\N	\N	EFO	3	EFO	material entity	ajmaline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28462	"" []	2020394	\N	\N	EFO	4	EFO	experimental factor	ajmaline
CHEBI:28534	\N	\N	"" []	CHEBI:28534	"" []	62229	\N	\N	EFO	0	EFO	1,2-dibromoethane	1,2-dibromoethane
CHEBI:37577	CHEBI:28534	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28534	"" []	201632	\N	\N	EFO	1	EFO	chemical compound	1,2-dibromoethane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28534	"" []	554541	\N	\N	EFO	2	EFO	chemical entity	1,2-dibromoethane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28534	"" []	1137247	\N	\N	EFO	3	EFO	material entity	1,2-dibromoethane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28534	"" []	2020395	\N	\N	EFO	4	EFO	experimental factor	1,2-dibromoethane
CHEBI:28568	\N	\N	"" []	CHEBI:28568	"" []	62230	\N	\N	EFO	0	EFO	piperazine	piperazine
CHEBI:24532	CHEBI:28568	\N	"" []	CHEBI:28568	"" []	201633	\N	\N	EFO	1	EFO	organic heterocyclic compound	piperazine
CHEBI:37577	CHEBI:24532	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28568	"" []	554542	\N	\N	EFO	2	EFO	chemical compound	piperazine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28568	"" []	1137248	\N	\N	EFO	3	EFO	chemical entity	piperazine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28568	"" []	2020396	\N	\N	EFO	4	EFO	material entity	piperazine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28568	"" []	3175423	\N	\N	EFO	5	EFO	experimental factor	piperazine
CHEBI:28593	\N	\N	"" []	CHEBI:28593	"" []	62231	\N	\N	EFO	0	EFO	quinidine	quinidine
CHEBI:37577	CHEBI:28593	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28593	"" []	201634	\N	\N	EFO	1	EFO	chemical compound	quinidine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28593	"" []	554543	\N	\N	EFO	2	EFO	chemical entity	quinidine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28593	"" []	1137249	\N	\N	EFO	3	EFO	material entity	quinidine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28593	"" []	2020397	\N	\N	EFO	4	EFO	experimental factor	quinidine
CHEBI:28618	\N	\N	"" []	CHEBI:28618	"" []	62232	\N	\N	EFO	0	EFO	1,4-dichlorobenzene	1,4-dichlorobenzene
CHEBI:37577	CHEBI:28618	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28618	"" []	201635	\N	\N	EFO	1	EFO	chemical compound	1,4-dichlorobenzene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28618	"" []	554544	\N	\N	EFO	2	EFO	chemical entity	1,4-dichlorobenzene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28618	"" []	1137250	\N	\N	EFO	3	EFO	material entity	1,4-dichlorobenzene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28618	"" []	2020398	\N	\N	EFO	4	EFO	experimental factor	1,4-dichlorobenzene
CHEBI:28619	\N	\N	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	CHEBI:28619	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	62233	\N	\N	EFO	0	EFO	acrylamide	acrylamide
EFO:0004417	CHEBI:28619	\N	"" []	CHEBI:28619	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	201636	\N	\N	EFO	1	EFO	amide	acrylamide
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28619	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	554545	\N	\N	EFO	2	EFO	chemical compound	acrylamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28619	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	1137251	\N	\N	EFO	3	EFO	chemical entity	acrylamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28619	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	2020399	\N	\N	EFO	4	EFO	material entity	acrylamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28619	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	3175424	\N	\N	EFO	5	EFO	experimental factor	acrylamide
CHEBI:28640	\N	\N	"A teichoic acid which is covalently bound to a lipid." []	CHEBI:28640	"A teichoic acid which is covalently bound to a lipid." []	62234	\N	\N	EFO	0	EFO	lipoteichoic Acid	lipoteichoic Acid
EFO:0004416	CHEBI:28640	\N	"" []	CHEBI:28640	"A teichoic acid which is covalently bound to a lipid." []	201637	\N	\N	EFO	1	EFO	acid	lipoteichoic Acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28640	"A teichoic acid which is covalently bound to a lipid." []	554546	\N	\N	EFO	2	EFO	chemical compound	lipoteichoic Acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28640	"A teichoic acid which is covalently bound to a lipid." []	1137252	\N	\N	EFO	3	EFO	chemical entity	lipoteichoic Acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28640	"A teichoic acid which is covalently bound to a lipid." []	2020400	\N	\N	EFO	4	EFO	material entity	lipoteichoic Acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28640	"A teichoic acid which is covalently bound to a lipid." []	3175425	\N	\N	EFO	5	EFO	experimental factor	lipoteichoic Acid
CHEBI:28659	\N	\N	"" []	CHEBI:28659	"" []	62235	\N	\N	EFO	0	EFO	phosphorus	phosphorus
CHEBI:33250	CHEBI:28659	\N	"" []	CHEBI:28659	"" []	201638	\N	\N	EFO	1	EFO	element	phosphorus
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:28659	"" []	554547	\N	\N	EFO	2	EFO	chemical entity	phosphorus
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28659	"" []	1137253	\N	\N	EFO	3	EFO	material entity	phosphorus
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28659	"" []	2020401	\N	\N	EFO	4	EFO	experimental factor	phosphorus
CHEBI:28661	\N	\N	"A C18, omega-6 acid fatty acid comprising a linolenic acid having cis- double bonds at positions 6, 9 and 12." []	CHEBI:28661	"A C18, omega-6 acid fatty acid comprising a linolenic acid having cis- double bonds at positions 6, 9 and 12." []	62236	\N	\N	EFO	0	EFO	gamma-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gamma-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:25048	CHEBI:28661	\N	"Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins." []	CHEBI:28661	"A C18, omega-6 acid fatty acid comprising a linolenic acid having cis- double bonds at positions 6, 9 and 12." []	201639	\N	\N	EFO	1	EFO	linolenic acid	gamma-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:35366	CHEBI:25048	\N	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	CHEBI:28661	"A C18, omega-6 acid fatty acid comprising a linolenic acid having cis- double bonds at positions 6, 9 and 12." []	554548	\N	\N	EFO	2	EFO	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gamma-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:18059	CHEBI:35366	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:28661	"A C18, omega-6 acid fatty acid comprising a linolenic acid having cis- double bonds at positions 6, 9 and 12." []	1137254	\N	\N	EFO	3	EFO	lipid	gamma-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004416	CHEBI:35366	\N	"" []	CHEBI:28661	"A C18, omega-6 acid fatty acid comprising a linolenic acid having cis- double bonds at positions 6, 9 and 12." []	1137255	\N	\N	EFO	3	EFO	acid	gamma-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28661	"A C18, omega-6 acid fatty acid comprising a linolenic acid having cis- double bonds at positions 6, 9 and 12." []	2020402	\N	\N	EFO	4	EFO	chemical compound	gamma-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28661	"A C18, omega-6 acid fatty acid comprising a linolenic acid having cis- double bonds at positions 6, 9 and 12." []	2020403	\N	\N	EFO	4	EFO	chemical compound	gamma-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28661	"A C18, omega-6 acid fatty acid comprising a linolenic acid having cis- double bonds at positions 6, 9 and 12." []	3175426	\N	\N	EFO	5	EFO	chemical entity	gamma-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28661	"A C18, omega-6 acid fatty acid comprising a linolenic acid having cis- double bonds at positions 6, 9 and 12." []	4386531	\N	\N	EFO	6	EFO	material entity	gamma-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28661	"A C18, omega-6 acid fatty acid comprising a linolenic acid having cis- double bonds at positions 6, 9 and 12." []	5407761	\N	\N	EFO	7	EFO	experimental factor	gamma-linolenic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:28666	\N	\N	"A leukotriene that has formula C25H40N2O6S." []	CHEBI:28666	"A leukotriene that has formula C25H40N2O6S." []	62237	\N	\N	EFO	0	EFO	leukotriene D4	leukotriene D4
CHEBI:37577	CHEBI:28666	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28666	"A leukotriene that has formula C25H40N2O6S." []	201640	\N	\N	EFO	1	EFO	chemical compound	leukotriene D4
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28666	"A leukotriene that has formula C25H40N2O6S." []	554549	\N	\N	EFO	2	EFO	chemical entity	leukotriene D4
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28666	"A leukotriene that has formula C25H40N2O6S." []	1137256	\N	\N	EFO	3	EFO	material entity	leukotriene D4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28666	"A leukotriene that has formula C25H40N2O6S." []	2020404	\N	\N	EFO	4	EFO	experimental factor	leukotriene D4
CHEBI:28680	\N	\N	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	CHEBI:28680	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	62238	\N	\N	EFO	0	EFO	cytarabine	cytarabine
CHEBI:23888	CHEBI:28680	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:28680	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	201641	\N	\N	EFO	1	EFO	drug	cytarabine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28680	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	554550	\N	\N	EFO	2	EFO	chemical compound	cytarabine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28680	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	1137257	\N	\N	EFO	3	EFO	chemical entity	cytarabine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28680	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	2020405	\N	\N	EFO	4	EFO	material entity	cytarabine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28680	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	3175427	\N	\N	EFO	5	EFO	experimental factor	cytarabine
CHEBI:28683	\N	\N	"A ketone that is alanine in which one of the methyl hydrogens is substituted by a 2-aminobenzoyl group." []	CHEBI:28683	"A ketone that is alanine in which one of the methyl hydrogens is substituted by a 2-aminobenzoyl group." []	62239	\N	\N	EFO	0	EFO	kynurenine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	kynurenine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:24431	CHEBI:28683	\N	"" []	CHEBI:28683	"A ketone that is alanine in which one of the methyl hydrogens is substituted by a 2-aminobenzoyl group." []	201642	\N	\N	EFO	1	EFO	chemical entity	kynurenine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28683	"A ketone that is alanine in which one of the methyl hydrogens is substituted by a 2-aminobenzoyl group." []	554551	\N	\N	EFO	2	EFO	material entity	kynurenine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28683	"A ketone that is alanine in which one of the methyl hydrogens is substituted by a 2-aminobenzoyl group." []	1137258	\N	\N	EFO	3	EFO	experimental factor	kynurenine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:28689	\N	\N	"An androgen that has formula C19H28O2." []	CHEBI:28689	"An androgen that has formula C19H28O2." []	62240	\N	\N	EFO	0	EFO	dehydroepiandrosterone	dehydroepiandrosterone
CHEBI:26764	CHEBI:28689	\N	"Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE." []	CHEBI:28689	"An androgen that has formula C19H28O2." []	201643	\N	\N	EFO	1	EFO	steroid hormone	dehydroepiandrosterone
CHEBI:24621	CHEBI:26764	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:28689	"An androgen that has formula C19H28O2." []	554552	\N	\N	EFO	2	EFO	hormone	dehydroepiandrosterone
CHEBI:35341	CHEBI:26764	\N	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	CHEBI:28689	"An androgen that has formula C19H28O2." []	554553	\N	\N	EFO	2	EFO	steroid	dehydroepiandrosterone
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28689	"An androgen that has formula C19H28O2." []	1137259	\N	\N	EFO	3	EFO	chemical compound	dehydroepiandrosterone
CHEBI:37577	CHEBI:35341	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28689	"An androgen that has formula C19H28O2." []	1137260	\N	\N	EFO	3	EFO	chemical compound	dehydroepiandrosterone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28689	"An androgen that has formula C19H28O2." []	2020406	\N	\N	EFO	4	EFO	chemical entity	dehydroepiandrosterone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28689	"An androgen that has formula C19H28O2." []	3175428	\N	\N	EFO	5	EFO	material entity	dehydroepiandrosterone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28689	"An androgen that has formula C19H28O2." []	4386532	\N	\N	EFO	6	EFO	experimental factor	dehydroepiandrosterone
CHEBI:28694	\N	\N	"A copper group element that has formula Cu." []	CHEBI:28694	"A copper group element that has formula Cu." []	62241	\N	\N	EFO	0	EFO	copper	copper
CHEBI:33250	CHEBI:28694	\N	"" []	CHEBI:28694	"A copper group element that has formula Cu." []	201644	\N	\N	EFO	1	EFO	element	copper
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:28694	"A copper group element that has formula Cu." []	554554	\N	\N	EFO	2	EFO	chemical entity	copper
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28694	"A copper group element that has formula Cu." []	1137261	\N	\N	EFO	3	EFO	material entity	copper
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28694	"A copper group element that has formula Cu." []	2020407	\N	\N	EFO	4	EFO	experimental factor	copper
CHEBI:28748	\N	\N	"A deoxy hexoside that has formula C27H29NO11." []	CHEBI:28748	"A deoxy hexoside that has formula C27H29NO11." []	62242	\N	\N	EFO	0	EFO	doxorubicin	doxorubicin
CHEBI:37577	CHEBI:28748	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28748	"A deoxy hexoside that has formula C27H29NO11." []	201645	\N	\N	EFO	1	EFO	chemical compound	doxorubicin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28748	"A deoxy hexoside that has formula C27H29NO11." []	554555	\N	\N	EFO	2	EFO	chemical entity	doxorubicin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28748	"A deoxy hexoside that has formula C27H29NO11." []	1137262	\N	\N	EFO	3	EFO	material entity	doxorubicin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28748	"A deoxy hexoside that has formula C27H29NO11." []	2020408	\N	\N	EFO	4	EFO	experimental factor	doxorubicin
CHEBI:28786	\N	\N	"" []	CHEBI:28786	"" []	62243	\N	\N	EFO	0	EFO	paraquat dichloride	paraquat dichloride
CHEBI:24431	CHEBI:28786	\N	"" []	CHEBI:28786	"" []	201646	\N	\N	EFO	1	EFO	chemical entity	paraquat dichloride
CHEBI:37577	CHEBI:28786	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28786	"" []	201647	\N	\N	EFO	1	EFO	chemical compound	paraquat dichloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28786	"" []	554556	\N	\N	EFO	2	EFO	chemical entity	paraquat dichloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28786	"" []	1137263	\N	\N	EFO	3	EFO	material entity	paraquat dichloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28786	"" []	2020409	\N	\N	EFO	4	EFO	experimental factor	paraquat dichloride
CHEBI:28790	\N	\N	"" []	CHEBI:28790	"" []	62244	\N	\N	EFO	0	EFO	serotonin	serotonin
CHEBI:37577	CHEBI:28790	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28790	"" []	201648	\N	\N	EFO	1	EFO	chemical compound	serotonin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28790	"" []	554557	\N	\N	EFO	2	EFO	chemical entity	serotonin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28790	"" []	1137264	\N	\N	EFO	3	EFO	material entity	serotonin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28790	"" []	2020410	\N	\N	EFO	4	EFO	experimental factor	serotonin
CHEBI:28794	\N	\N	"" []	CHEBI:28794	"" []	62245	\N	\N	EFO	0	EFO	coumarin	coumarin
CHEBI:37577	CHEBI:28794	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28794	"" []	201649	\N	\N	EFO	1	EFO	chemical compound	coumarin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28794	"" []	554558	\N	\N	EFO	2	EFO	chemical entity	coumarin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28794	"" []	1137265	\N	\N	EFO	3	EFO	material entity	coumarin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28794	"" []	2020411	\N	\N	EFO	4	EFO	experimental factor	coumarin
CHEBI:28824	\N	\N	"" []	CHEBI:28824	"" []	62246	\N	\N	EFO	0	EFO	phytosterol	phytosterol
CHEBI:35341	CHEBI:28824	\N	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	CHEBI:28824	"" []	201650	\N	\N	EFO	1	EFO	steroid	phytosterol
CHEBI:37577	CHEBI:35341	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28824	"" []	554559	\N	\N	EFO	2	EFO	chemical compound	phytosterol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28824	"" []	1137266	\N	\N	EFO	3	EFO	chemical entity	phytosterol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28824	"" []	2020412	\N	\N	EFO	4	EFO	material entity	phytosterol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28824	"" []	3175429	\N	\N	EFO	5	EFO	experimental factor	phytosterol
CHEBI:28833	\N	\N	"" []	CHEBI:28833	"" []	62247	\N	\N	EFO	0	EFO	gibberellin A3	gibberellin A3
CHEBI:37577	CHEBI:28833	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28833	"" []	201651	\N	\N	EFO	1	EFO	chemical compound	gibberellin A3
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28833	"" []	554560	\N	\N	EFO	2	EFO	chemical entity	gibberellin A3
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28833	"" []	1137267	\N	\N	EFO	3	EFO	material entity	gibberellin A3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28833	"" []	2020413	\N	\N	EFO	4	EFO	experimental factor	gibberellin A3
CHEBI:28843	\N	\N	"" []	CHEBI:28843	"" []	62248	\N	\N	EFO	0	EFO	5-amino-1-(5-phospho-D-ribosyl)imidazole	5-amino-1-(5-phospho-D-ribosyl)imidazole
CHEBI:37577	CHEBI:28843	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28843	"" []	201652	\N	\N	EFO	1	EFO	chemical compound	5-amino-1-(5-phospho-D-ribosyl)imidazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28843	"" []	554561	\N	\N	EFO	2	EFO	chemical entity	5-amino-1-(5-phospho-D-ribosyl)imidazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28843	"" []	1137268	\N	\N	EFO	3	EFO	material entity	5-amino-1-(5-phospho-D-ribosyl)imidazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28843	"" []	2020414	\N	\N	EFO	4	EFO	experimental factor	5-amino-1-(5-phospho-D-ribosyl)imidazole
CHEBI:28854	\N	\N	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	CHEBI:28854	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	62249	\N	\N	EFO	0	EFO	(2,4-dichlorophenoxy)acetic acid	(2,4-dichlorophenoxy)acetic acid
EFO:0004416	CHEBI:28854	\N	"" []	CHEBI:28854	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	201653	\N	\N	EFO	1	EFO	acid	(2,4-dichlorophenoxy)acetic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28854	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	554562	\N	\N	EFO	2	EFO	chemical compound	(2,4-dichlorophenoxy)acetic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28854	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	1137269	\N	\N	EFO	3	EFO	chemical entity	(2,4-dichlorophenoxy)acetic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28854	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	2020415	\N	\N	EFO	4	EFO	material entity	(2,4-dichlorophenoxy)acetic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28854	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	3175430	\N	\N	EFO	5	EFO	experimental factor	(2,4-dichlorophenoxy)acetic acid
CHEBI:28864	\N	\N	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	CHEBI:28864	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	62250	\N	\N	EFO	0	EFO	tobramycin	tobramycin
CHEBI:23888	CHEBI:28864	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:28864	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	201654	\N	\N	EFO	1	EFO	drug	tobramycin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28864	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	554563	\N	\N	EFO	2	EFO	chemical compound	tobramycin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28864	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	1137270	\N	\N	EFO	3	EFO	chemical entity	tobramycin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28864	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	2020416	\N	\N	EFO	4	EFO	material entity	tobramycin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28864	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	3175431	\N	\N	EFO	5	EFO	experimental factor	tobramycin
CHEBI:28885	\N	\N	"The determination of the amount of complement C4 present in a sample." []	CHEBI:28885	"The determination of the amount of complement C4 present in a sample." []	62251	\N	\N	EFO	0	EFO	butan-1-ol	butan-1-ol
CHEBI:37577	CHEBI:28885	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28885	"The determination of the amount of complement C4 present in a sample." []	201655	\N	\N	EFO	1	EFO	chemical compound	butan-1-ol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28885	"The determination of the amount of complement C4 present in a sample." []	554564	\N	\N	EFO	2	EFO	chemical entity	butan-1-ol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28885	"The determination of the amount of complement C4 present in a sample." []	1137271	\N	\N	EFO	3	EFO	material entity	butan-1-ol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28885	"The determination of the amount of complement C4 present in a sample." []	2020417	\N	\N	EFO	4	EFO	experimental factor	butan-1-ol
CHEBI:28924	\N	\N	"The sixth of the seven cervical vertebrae." []	CHEBI:28924	"The sixth of the seven cervical vertebrae." []	62252	\N	\N	EFO	0	EFO	3-aminophenol	3-aminophenol
CHEBI:37577	CHEBI:28924	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28924	"The sixth of the seven cervical vertebrae." []	201656	\N	\N	EFO	1	EFO	chemical compound	3-aminophenol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28924	"The sixth of the seven cervical vertebrae." []	554565	\N	\N	EFO	2	EFO	chemical entity	3-aminophenol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28924	"The sixth of the seven cervical vertebrae." []	1137272	\N	\N	EFO	3	EFO	material entity	3-aminophenol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28924	"The sixth of the seven cervical vertebrae." []	2020418	\N	\N	EFO	4	EFO	experimental factor	3-aminophenol
CHEBI:28938	\N	\N	"" []	CHEBI:28938	"" []	62253	\N	\N	EFO	0	EFO	ammonium	ammonium
CHEBI:24431	CHEBI:28938	\N	"" []	CHEBI:28938	"" []	201657	\N	\N	EFO	1	EFO	chemical entity	ammonium
CHEBI:37577	CHEBI:28938	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28938	"" []	201658	\N	\N	EFO	1	EFO	chemical compound	ammonium
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28938	"" []	554566	\N	\N	EFO	2	EFO	chemical entity	ammonium
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28938	"" []	1137273	\N	\N	EFO	3	EFO	material entity	ammonium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28938	"" []	2020419	\N	\N	EFO	4	EFO	experimental factor	ammonium
CHEBI:28939	\N	\N	"The N-acetylated derivative of natural amino acid L-cysteine." []	CHEBI:28939	"The N-acetylated derivative of natural amino acid L-cysteine." []	62254	\N	\N	EFO	0	EFO	N-acetyl-L-cysteine	N-acetyl-L-cysteine
CHEBI:23888	CHEBI:28939	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:28939	"The N-acetylated derivative of natural amino acid L-cysteine." []	201659	\N	\N	EFO	1	EFO	drug	N-acetyl-L-cysteine
CHEBI:24431	CHEBI:28939	\N	"" []	CHEBI:28939	"The N-acetylated derivative of natural amino acid L-cysteine." []	201660	\N	\N	EFO	1	EFO	chemical entity	N-acetyl-L-cysteine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28939	"The N-acetylated derivative of natural amino acid L-cysteine." []	554567	\N	\N	EFO	2	EFO	chemical compound	N-acetyl-L-cysteine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28939	"The N-acetylated derivative of natural amino acid L-cysteine." []	1137274	\N	\N	EFO	3	EFO	chemical entity	N-acetyl-L-cysteine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28939	"The N-acetylated derivative of natural amino acid L-cysteine." []	2020420	\N	\N	EFO	4	EFO	material entity	N-acetyl-L-cysteine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28939	"The N-acetylated derivative of natural amino acid L-cysteine." []	3175432	\N	\N	EFO	5	EFO	experimental factor	N-acetyl-L-cysteine
CHEBI:28940	\N	\N	"A vitamin D that has formula C27H44O." []	CHEBI:28940	"A vitamin D that has formula C27H44O." []	62255	\N	\N	EFO	0	EFO	calciol	calciol
CHEBI:37577	CHEBI:28940	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28940	"A vitamin D that has formula C27H44O." []	201661	\N	\N	EFO	1	EFO	chemical compound	calciol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28940	"A vitamin D that has formula C27H44O." []	554568	\N	\N	EFO	2	EFO	chemical entity	calciol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28940	"A vitamin D that has formula C27H44O." []	1137275	\N	\N	EFO	3	EFO	material entity	calciol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28940	"A vitamin D that has formula C27H44O." []	2020421	\N	\N	EFO	4	EFO	experimental factor	calciol
CHEBI:28971	\N	\N	"A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-phenylacetamido group." []	CHEBI:28971	"A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-phenylacetamido group." []	62256	\N	\N	EFO	0	EFO	ampicillin	ampicillin
CHEBI:37577	CHEBI:28971	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:28971	"A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-phenylacetamido group." []	201662	\N	\N	EFO	1	EFO	chemical compound	ampicillin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:28971	"A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-phenylacetamido group." []	554569	\N	\N	EFO	2	EFO	chemical entity	ampicillin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28971	"A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-phenylacetamido group." []	1137276	\N	\N	EFO	3	EFO	material entity	ampicillin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28971	"A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-phenylacetamido group." []	2020422	\N	\N	EFO	4	EFO	experimental factor	ampicillin
CHEBI:28984	\N	\N	"A boron group element that has formula Al." []	CHEBI:28984	"A boron group element that has formula Al." []	62257	\N	\N	EFO	0	EFO	aluminium	aluminium
CHEBI:33250	CHEBI:28984	\N	"" []	CHEBI:28984	"A boron group element that has formula Al." []	201663	\N	\N	EFO	1	EFO	element	aluminium
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:28984	"A boron group element that has formula Al." []	554570	\N	\N	EFO	2	EFO	chemical entity	aluminium
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:28984	"A boron group element that has formula Al." []	1137277	\N	\N	EFO	3	EFO	material entity	aluminium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:28984	"A boron group element that has formula Al." []	2020423	\N	\N	EFO	4	EFO	experimental factor	aluminium
CHEBI:29007	\N	\N	"A cephalosporin compound having 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetylamino and [(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl side groups." []	CHEBI:29007	"A cephalosporin compound having 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetylamino and [(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl side groups." []	62258	\N	\N	EFO	0	EFO	ceftriaxone	ceftriaxone
CHEBI:37577	CHEBI:29007	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29007	"A cephalosporin compound having 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetylamino and [(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl side groups." []	201664	\N	\N	EFO	1	EFO	chemical compound	ceftriaxone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29007	"A cephalosporin compound having 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetylamino and [(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl side groups." []	554571	\N	\N	EFO	2	EFO	chemical entity	ceftriaxone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29007	"A cephalosporin compound having 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetylamino and [(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl side groups." []	1137278	\N	\N	EFO	3	EFO	material entity	ceftriaxone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29007	"A cephalosporin compound having 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetylamino and [(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl side groups." []	2020424	\N	\N	EFO	4	EFO	experimental factor	ceftriaxone
CHEBI:29022	\N	\N	"" []	CHEBI:29022	"" []	62259	\N	\N	EFO	0	EFO	N-benzyladenine	N-benzyladenine
CHEBI:24621	CHEBI:29022	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:29022	"" []	201665	\N	\N	EFO	1	EFO	hormone	N-benzyladenine
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29022	"" []	554572	\N	\N	EFO	2	EFO	chemical compound	N-benzyladenine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29022	"" []	1137279	\N	\N	EFO	3	EFO	chemical entity	N-benzyladenine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29022	"" []	2020425	\N	\N	EFO	4	EFO	material entity	N-benzyladenine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29022	"" []	3175433	\N	\N	EFO	5	EFO	experimental factor	N-benzyladenine
CHEBI:29073	\N	\N	"The L- enatiomer of ascorbic acid and conjugate acid of L-ascorbate; an essential nutrient and antioxidant with possible anticancer role, especially with intravenous administration. A cofactor in several enzymatic reactions of living organisms, it is linked with effective wound healing and  prevention or treatment of scurvy and gout. Also known as vitamin C, it is believed to boost the immune system. Humans alone of the primates require exogenous sources of daily vitamin C." []	CHEBI:29073	"The L- enatiomer of ascorbic acid and conjugate acid of L-ascorbate; an essential nutrient and antioxidant with possible anticancer role, especially with intravenous administration. A cofactor in several enzymatic reactions of living organisms, it is linked with effective wound healing and  prevention or treatment of scurvy and gout. Also known as vitamin C, it is believed to boost the immune system. Humans alone of the primates require exogenous sources of daily vitamin C." []	62260	\N	\N	EFO	0	EFO	L-ascorbic acid	L-ascorbic acid
EFO:0004416	CHEBI:29073	\N	"" []	CHEBI:29073	"The L- enatiomer of ascorbic acid and conjugate acid of L-ascorbate; an essential nutrient and antioxidant with possible anticancer role, especially with intravenous administration. A cofactor in several enzymatic reactions of living organisms, it is linked with effective wound healing and  prevention or treatment of scurvy and gout. Also known as vitamin C, it is believed to boost the immune system. Humans alone of the primates require exogenous sources of daily vitamin C." []	201666	\N	\N	EFO	1	EFO	acid	L-ascorbic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29073	"The L- enatiomer of ascorbic acid and conjugate acid of L-ascorbate; an essential nutrient and antioxidant with possible anticancer role, especially with intravenous administration. A cofactor in several enzymatic reactions of living organisms, it is linked with effective wound healing and  prevention or treatment of scurvy and gout. Also known as vitamin C, it is believed to boost the immune system. Humans alone of the primates require exogenous sources of daily vitamin C." []	554573	\N	\N	EFO	2	EFO	chemical compound	L-ascorbic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29073	"The L- enatiomer of ascorbic acid and conjugate acid of L-ascorbate; an essential nutrient and antioxidant with possible anticancer role, especially with intravenous administration. A cofactor in several enzymatic reactions of living organisms, it is linked with effective wound healing and  prevention or treatment of scurvy and gout. Also known as vitamin C, it is believed to boost the immune system. Humans alone of the primates require exogenous sources of daily vitamin C." []	1137280	\N	\N	EFO	3	EFO	chemical entity	L-ascorbic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29073	"The L- enatiomer of ascorbic acid and conjugate acid of L-ascorbate; an essential nutrient and antioxidant with possible anticancer role, especially with intravenous administration. A cofactor in several enzymatic reactions of living organisms, it is linked with effective wound healing and  prevention or treatment of scurvy and gout. Also known as vitamin C, it is believed to boost the immune system. Humans alone of the primates require exogenous sources of daily vitamin C." []	2020426	\N	\N	EFO	4	EFO	material entity	L-ascorbic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29073	"The L- enatiomer of ascorbic acid and conjugate acid of L-ascorbate; an essential nutrient and antioxidant with possible anticancer role, especially with intravenous administration. A cofactor in several enzymatic reactions of living organisms, it is linked with effective wound healing and  prevention or treatment of scurvy and gout. Also known as vitamin C, it is believed to boost the immune system. Humans alone of the primates require exogenous sources of daily vitamin C." []	3175434	\N	\N	EFO	5	EFO	experimental factor	L-ascorbic acid
CHEBI:29108	\N	\N	"A calcium cation that has formula Ca." []	CHEBI:29108	"A calcium cation that has formula Ca." []	62261	\N	\N	EFO	0	EFO	calcium(2+)	calcium(2+)
CHEBI:24431	CHEBI:29108	\N	"" []	CHEBI:29108	"A calcium cation that has formula Ca." []	201667	\N	\N	EFO	1	EFO	chemical entity	calcium(2+)
CHEBI:37577	CHEBI:29108	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29108	"A calcium cation that has formula Ca." []	201668	\N	\N	EFO	1	EFO	chemical compound	calcium(2+)
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29108	"A calcium cation that has formula Ca." []	554574	\N	\N	EFO	2	EFO	chemical entity	calcium(2+)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29108	"A calcium cation that has formula Ca." []	1137281	\N	\N	EFO	3	EFO	material entity	calcium(2+)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29108	"A calcium cation that has formula Ca." []	2020427	\N	\N	EFO	4	EFO	experimental factor	calcium(2+)
CHEBI:29321	\N	\N	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	CHEBI:29321	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	62262	\N	\N	EFO	0	EFO	sodium nitroprusside	sodium nitroprusside
CHEBI:24431	CHEBI:29321	\N	"" []	CHEBI:29321	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	201669	\N	\N	EFO	1	EFO	chemical entity	sodium nitroprusside
CHEBI:37577	CHEBI:29321	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29321	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	201670	\N	\N	EFO	1	EFO	chemical compound	sodium nitroprusside
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29321	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	554575	\N	\N	EFO	2	EFO	chemical entity	sodium nitroprusside
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29321	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	1137282	\N	\N	EFO	3	EFO	material entity	sodium nitroprusside
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29321	"Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release." []	2020428	\N	\N	EFO	4	EFO	experimental factor	sodium nitroprusside
CHEBI:29365	\N	\N	"" []	CHEBI:29365	"" []	62263	\N	\N	EFO	0	EFO	phosgene	phosgene
CHEBI:37577	CHEBI:29365	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29365	"" []	201671	\N	\N	EFO	1	EFO	chemical compound	phosgene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29365	"" []	554576	\N	\N	EFO	2	EFO	chemical entity	phosgene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29365	"" []	1137283	\N	\N	EFO	3	EFO	material entity	phosgene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29365	"" []	2020429	\N	\N	EFO	4	EFO	experimental factor	phosgene
CHEBI:29371	\N	\N	"" []	CHEBI:29371	"" []	62264	\N	\N	EFO	0	EFO	dioxygen(2+)	dioxygen(2+)
CHEBI:37577	CHEBI:29371	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29371	"" []	201672	\N	\N	EFO	1	EFO	chemical compound	dioxygen(2+)
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29371	"" []	554577	\N	\N	EFO	2	EFO	chemical entity	dioxygen(2+)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29371	"" []	1137284	\N	\N	EFO	3	EFO	material entity	dioxygen(2+)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29371	"" []	2020430	\N	\N	EFO	4	EFO	experimental factor	dioxygen(2+)
CHEBI:2948	\N	\N	"" []	CHEBI:2948	"" []	62265	\N	\N	EFO	0	EFO	azathioprine	azathioprine
CHEBI:23888	CHEBI:2948	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:2948	"" []	201673	\N	\N	EFO	1	EFO	drug	azathioprine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2948	"" []	554578	\N	\N	EFO	2	EFO	chemical compound	azathioprine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2948	"" []	1137285	\N	\N	EFO	3	EFO	chemical entity	azathioprine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2948	"" []	2020431	\N	\N	EFO	4	EFO	material entity	azathioprine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2948	"" []	3175435	\N	\N	EFO	5	EFO	experimental factor	azathioprine
CHEBI:2955	\N	\N	"A chromosome band present on 10q" []	CHEBI:2955	"A chromosome band present on 10q" []	62266	\N	\N	EFO	0	EFO	azithromycin	azithromycin
CHEBI:37577	CHEBI:2955	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2955	"A chromosome band present on 10q" []	201674	\N	\N	EFO	1	EFO	chemical compound	azithromycin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2955	"A chromosome band present on 10q" []	554579	\N	\N	EFO	2	EFO	chemical entity	azithromycin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2955	"A chromosome band present on 10q" []	1137286	\N	\N	EFO	3	EFO	material entity	azithromycin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2955	"A chromosome band present on 10q" []	2020432	\N	\N	EFO	4	EFO	experimental factor	azithromycin
CHEBI:29655	\N	\N	"" []	CHEBI:29655	"" []	62267	\N	\N	EFO	0	EFO	neocarzinostatin chromophore	neocarzinostatin chromophore
CHEBI:23888	CHEBI:29655	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:29655	"" []	201675	\N	\N	EFO	1	EFO	drug	neocarzinostatin chromophore
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29655	"" []	554580	\N	\N	EFO	2	EFO	chemical compound	neocarzinostatin chromophore
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29655	"" []	1137287	\N	\N	EFO	3	EFO	chemical entity	neocarzinostatin chromophore
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29655	"" []	2020433	\N	\N	EFO	4	EFO	material entity	neocarzinostatin chromophore
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29655	"" []	3175436	\N	\N	EFO	5	EFO	experimental factor	neocarzinostatin chromophore
CHEBI:29678	\N	\N	"" []	CHEBI:29678	"" []	62268	\N	\N	EFO	0	EFO	sodium metaarsenite	sodium metaarsenite
CHEBI:37577	CHEBI:29678	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29678	"" []	201676	\N	\N	EFO	1	EFO	chemical compound	sodium metaarsenite
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29678	"" []	554581	\N	\N	EFO	2	EFO	chemical entity	sodium metaarsenite
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29678	"" []	1137288	\N	\N	EFO	3	EFO	material entity	sodium metaarsenite
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29678	"" []	2020434	\N	\N	EFO	4	EFO	experimental factor	sodium metaarsenite
CHEBI:29693	\N	\N	"" []	CHEBI:29693	"" []	62269	\N	\N	EFO	0	EFO	thiostrepton	thiostrepton
CHEBI:23888	CHEBI:29693	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:29693	"" []	201677	\N	\N	EFO	1	EFO	drug	thiostrepton
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29693	"" []	554582	\N	\N	EFO	2	EFO	chemical compound	thiostrepton
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29693	"" []	1137289	\N	\N	EFO	3	EFO	chemical entity	thiostrepton
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29693	"" []	2020435	\N	\N	EFO	4	EFO	material entity	thiostrepton
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29693	"" []	3175437	\N	\N	EFO	5	EFO	experimental factor	thiostrepton
CHEBI:29699	\N	\N	"" []	CHEBI:29699	"" []	62270	\N	\N	EFO	0	EFO	tunicamycin	tunicamycin
CHEBI:24431	CHEBI:29699	\N	"" []	CHEBI:29699	"" []	201678	\N	\N	EFO	1	EFO	chemical entity	tunicamycin
CHEBI:37577	CHEBI:29699	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29699	"" []	201679	\N	\N	EFO	1	EFO	chemical compound	tunicamycin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29699	"" []	554583	\N	\N	EFO	2	EFO	chemical entity	tunicamycin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29699	"" []	1137290	\N	\N	EFO	3	EFO	material entity	tunicamycin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29699	"" []	2020436	\N	\N	EFO	4	EFO	experimental factor	tunicamycin
CHEBI:2981	\N	\N	"The glycosyloxyflavone which is the 7-O-glucuronide of baicalein." []	CHEBI:2981	"The glycosyloxyflavone which is the 7-O-glucuronide of baicalein." []	62271	\N	\N	EFO	0	EFO	baicalin	baicalin
CHEBI:37577	CHEBI:2981	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:2981	"The glycosyloxyflavone which is the 7-O-glucuronide of baicalein." []	201680	\N	\N	EFO	1	EFO	chemical compound	baicalin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:2981	"The glycosyloxyflavone which is the 7-O-glucuronide of baicalein." []	554584	\N	\N	EFO	2	EFO	chemical entity	baicalin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:2981	"The glycosyloxyflavone which is the 7-O-glucuronide of baicalein." []	1137291	\N	\N	EFO	3	EFO	material entity	baicalin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:2981	"The glycosyloxyflavone which is the 7-O-glucuronide of baicalein." []	2020437	\N	\N	EFO	4	EFO	experimental factor	baicalin
CHEBI:29865	\N	\N	"An ortho- and peri-fused polycyclic arene consisting of five fused benzene rings." []	CHEBI:29865	"An ortho- and peri-fused polycyclic arene consisting of five fused benzene rings." []	62272	\N	\N	EFO	0	EFO	benzo(a)pyrene	benzo(a)pyrene
CHEBI:37577	CHEBI:29865	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29865	"An ortho- and peri-fused polycyclic arene consisting of five fused benzene rings." []	201681	\N	\N	EFO	1	EFO	chemical compound	benzo(a)pyrene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29865	"An ortho- and peri-fused polycyclic arene consisting of five fused benzene rings." []	554585	\N	\N	EFO	2	EFO	chemical entity	benzo(a)pyrene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29865	"An ortho- and peri-fused polycyclic arene consisting of five fused benzene rings." []	1137292	\N	\N	EFO	3	EFO	material entity	benzo(a)pyrene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29865	"An ortho- and peri-fused polycyclic arene consisting of five fused benzene rings." []	2020438	\N	\N	EFO	4	EFO	experimental factor	benzo(a)pyrene
CHEBI:29866	\N	\N	"An arsenite ion that has formula AsO3." []	CHEBI:29866	"An arsenite ion that has formula AsO3." []	62273	\N	\N	EFO	0	EFO	arsenite(3-)	arsenite(3-)
CHEBI:37577	CHEBI:29866	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:29866	"An arsenite ion that has formula AsO3." []	201682	\N	\N	EFO	1	EFO	chemical compound	arsenite(3-)
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:29866	"An arsenite ion that has formula AsO3." []	554586	\N	\N	EFO	2	EFO	chemical entity	arsenite(3-)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:29866	"An arsenite ion that has formula AsO3." []	1137293	\N	\N	EFO	3	EFO	material entity	arsenite(3-)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:29866	"An arsenite ion that has formula AsO3." []	2020439	\N	\N	EFO	4	EFO	experimental factor	arsenite(3-)
CHEBI:30045	\N	\N	"" []	CHEBI:30045	"" []	62274	\N	\N	EFO	0	EFO	divanadium pentaoxide	divanadium pentaoxide
CHEBI:37577	CHEBI:30045	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:30045	"" []	201683	\N	\N	EFO	1	EFO	chemical compound	divanadium pentaoxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:30045	"" []	554587	\N	\N	EFO	2	EFO	chemical entity	divanadium pentaoxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:30045	"" []	1137294	\N	\N	EFO	3	EFO	material entity	divanadium pentaoxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:30045	"" []	2020440	\N	\N	EFO	4	EFO	experimental factor	divanadium pentaoxide
CHEBI:30089	\N	\N	"The conjugate base of acetic acid." []	CHEBI:30089	"The conjugate base of acetic acid." []	62275	\N	\N	EFO	0	EFO	acetate	acetate
CHEBI:37577	CHEBI:30089	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:30089	"The conjugate base of acetic acid." []	201684	\N	\N	EFO	1	EFO	chemical compound	acetate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:30089	"The conjugate base of acetic acid." []	554588	\N	\N	EFO	2	EFO	chemical entity	acetate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:30089	"The conjugate base of acetic acid." []	1137295	\N	\N	EFO	3	EFO	material entity	acetate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:30089	"The conjugate base of acetic acid." []	2020441	\N	\N	EFO	4	EFO	experimental factor	acetate
CHEBI:30114	\N	\N	"An aluminium coordination entity that has formula AlCl3." []	CHEBI:30114	"An aluminium coordination entity that has formula AlCl3." []	62276	\N	\N	EFO	0	EFO	aluminium trichloride	aluminium trichloride
EFO:0004415	CHEBI:30114	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:30114	"An aluminium coordination entity that has formula AlCl3." []	201685	\N	\N	EFO	1	EFO	ionic salt	aluminium trichloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:30114	"An aluminium coordination entity that has formula AlCl3." []	554589	\N	\N	EFO	2	EFO	chemical compound	aluminium trichloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:30114	"An aluminium coordination entity that has formula AlCl3." []	1137296	\N	\N	EFO	3	EFO	chemical entity	aluminium trichloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:30114	"An aluminium coordination entity that has formula AlCl3." []	2020442	\N	\N	EFO	4	EFO	material entity	aluminium trichloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:30114	"An aluminium coordination entity that has formula AlCl3." []	3175438	\N	\N	EFO	5	EFO	experimental factor	aluminium trichloride
CHEBI:30145	\N	\N	"" []	CHEBI:30145	"" []	62277	\N	\N	EFO	0	EFO	lithium atom	lithium atom
CHEBI:37577	CHEBI:30145	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:30145	"" []	201686	\N	\N	EFO	1	EFO	chemical compound	lithium atom
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:30145	"" []	554590	\N	\N	EFO	2	EFO	chemical entity	lithium atom
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:30145	"" []	1137297	\N	\N	EFO	3	EFO	material entity	lithium atom
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:30145	"" []	2020443	\N	\N	EFO	4	EFO	experimental factor	lithium atom
CHEBI:3015	\N	\N	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	CHEBI:3015	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	62278	\N	\N	EFO	0	EFO	benomyl	benomyl
CHEBI:59219	CHEBI:3015	\N	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	CHEBI:3015	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	201687	\N	\N	EFO	1	EFO	caerulein	benomyl
CHEBI:37577	CHEBI:59219	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3015	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	554591	\N	\N	EFO	2	EFO	chemical compound	benomyl
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3015	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	1137298	\N	\N	EFO	3	EFO	chemical entity	benomyl
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3015	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	2020444	\N	\N	EFO	4	EFO	material entity	benomyl
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3015	"A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath." []	3175439	\N	\N	EFO	5	EFO	experimental factor	benomyl
CHEBI:3023	\N	\N	"" []	CHEBI:3023	"" []	62279	\N	\N	EFO	0	EFO	benzbromarone	benzbromarone
CHEBI:37577	CHEBI:3023	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3023	"" []	201688	\N	\N	EFO	1	EFO	chemical compound	benzbromarone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3023	"" []	554592	\N	\N	EFO	2	EFO	chemical entity	benzbromarone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3023	"" []	1137299	\N	\N	EFO	3	EFO	material entity	benzbromarone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3023	"" []	2020445	\N	\N	EFO	4	EFO	experimental factor	benzbromarone
CHEBI:30304	\N	\N	"" []	CHEBI:30304	"" []	62280	\N	\N	EFO	0	EFO	antimony(0)	antimony(0)
CHEBI:37577	CHEBI:30304	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:30304	"" []	201689	\N	\N	EFO	1	EFO	chemical compound	antimony(0)
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:30304	"" []	554593	\N	\N	EFO	2	EFO	chemical entity	antimony(0)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:30304	"" []	1137300	\N	\N	EFO	3	EFO	material entity	antimony(0)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:30304	"" []	2020446	\N	\N	EFO	4	EFO	experimental factor	antimony(0)
CHEBI:30351	\N	\N	"A bipyridine that has formula C10H8N2." []	CHEBI:30351	"A bipyridine that has formula C10H8N2." []	62281	\N	\N	EFO	0	EFO	2,2'-bipyridine	2,2'-bipyridine
CHEBI:37577	CHEBI:30351	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:30351	"A bipyridine that has formula C10H8N2." []	201690	\N	\N	EFO	1	EFO	chemical compound	2,2'-bipyridine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:30351	"A bipyridine that has formula C10H8N2." []	554594	\N	\N	EFO	2	EFO	chemical entity	2,2'-bipyridine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:30351	"A bipyridine that has formula C10H8N2." []	1137301	\N	\N	EFO	3	EFO	material entity	2,2'-bipyridine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:30351	"A bipyridine that has formula C10H8N2." []	2020447	\N	\N	EFO	4	EFO	experimental factor	2,2'-bipyridine
CHEBI:30614	\N	\N	"An epoxide that has formula C20H14O3." []	CHEBI:30614	"An epoxide that has formula C20H14O3." []	62282	\N	\N	EFO	0	EFO	benzo(a)pyrene diolepoxide 1	benzo(a)pyrene diolepoxide 1
CHEBI:37577	CHEBI:30614	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:30614	"An epoxide that has formula C20H14O3." []	201691	\N	\N	EFO	1	EFO	chemical compound	benzo(a)pyrene diolepoxide 1
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:30614	"An epoxide that has formula C20H14O3." []	554595	\N	\N	EFO	2	EFO	chemical entity	benzo(a)pyrene diolepoxide 1
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:30614	"An epoxide that has formula C20H14O3." []	1137302	\N	\N	EFO	3	EFO	material entity	benzo(a)pyrene diolepoxide 1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:30614	"An epoxide that has formula C20H14O3." []	2020448	\N	\N	EFO	4	EFO	experimental factor	benzo(a)pyrene diolepoxide 1
CHEBI:30621	\N	\N	"" []	CHEBI:30621	"" []	62283	\N	\N	EFO	0	EFO	diarsenic trioxide	diarsenic trioxide
CHEBI:37577	CHEBI:30621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:30621	"" []	201692	\N	\N	EFO	1	EFO	chemical compound	diarsenic trioxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:30621	"" []	554596	\N	\N	EFO	2	EFO	chemical entity	diarsenic trioxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:30621	"" []	1137303	\N	\N	EFO	3	EFO	material entity	diarsenic trioxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:30621	"" []	2020449	\N	\N	EFO	4	EFO	experimental factor	diarsenic trioxide
CHEBI:30660	\N	\N	"" []	CHEBI:30660	"" []	62284	\N	\N	EFO	0	EFO	thyroxine	thyroxine
CHEBI:24621	CHEBI:30660	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:30660	"" []	201693	\N	\N	EFO	1	EFO	hormone	thyroxine
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:30660	"" []	554597	\N	\N	EFO	2	EFO	chemical compound	thyroxine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:30660	"" []	1137304	\N	\N	EFO	3	EFO	chemical entity	thyroxine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:30660	"" []	2020450	\N	\N	EFO	4	EFO	material entity	thyroxine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:30660	"" []	3175440	\N	\N	EFO	5	EFO	experimental factor	thyroxine
CHEBI:30742	\N	\N	"A 1,2-glycol compound produced via reaction of ethylene oxide with water." []	CHEBI:30742	"A 1,2-glycol compound produced via reaction of ethylene oxide with water." []	62285	\N	\N	EFO	0	EFO	ethylene glycol	ethylene glycol
CHEBI:37577	CHEBI:30742	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:30742	"A 1,2-glycol compound produced via reaction of ethylene oxide with water." []	201694	\N	\N	EFO	1	EFO	chemical compound	ethylene glycol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:30742	"A 1,2-glycol compound produced via reaction of ethylene oxide with water." []	554598	\N	\N	EFO	2	EFO	chemical entity	ethylene glycol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:30742	"A 1,2-glycol compound produced via reaction of ethylene oxide with water." []	1137305	\N	\N	EFO	3	EFO	material entity	ethylene glycol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:30742	"A 1,2-glycol compound produced via reaction of ethylene oxide with water." []	2020451	\N	\N	EFO	4	EFO	experimental factor	ethylene glycol
CHEBI:30746	\N	\N	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	CHEBI:30746	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	62286	\N	\N	EFO	0	EFO	benzoic acid	benzoic acid
EFO:0004416	CHEBI:30746	\N	"" []	CHEBI:30746	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	201695	\N	\N	EFO	1	EFO	acid	benzoic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:30746	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	554599	\N	\N	EFO	2	EFO	chemical compound	benzoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:30746	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	1137306	\N	\N	EFO	3	EFO	chemical entity	benzoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:30746	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	2020452	\N	\N	EFO	4	EFO	material entity	benzoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:30746	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	3175441	\N	\N	EFO	5	EFO	experimental factor	benzoic acid
CHEBI:3090	\N	\N	"An amide that has formula C18H14F4N2O4S." []	CHEBI:3090	"An amide that has formula C18H14F4N2O4S." []	62287	\N	\N	EFO	0	EFO	bicalutamide	bicalutamide
CHEBI:23888	CHEBI:3090	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:3090	"An amide that has formula C18H14F4N2O4S." []	201696	\N	\N	EFO	1	EFO	drug	bicalutamide
EFO:0004417	CHEBI:3090	\N	"" []	CHEBI:3090	"An amide that has formula C18H14F4N2O4S." []	201697	\N	\N	EFO	1	EFO	amide	bicalutamide
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3090	"An amide that has formula C18H14F4N2O4S." []	554600	\N	\N	EFO	2	EFO	chemical compound	bicalutamide
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3090	"An amide that has formula C18H14F4N2O4S." []	554601	\N	\N	EFO	2	EFO	chemical compound	bicalutamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3090	"An amide that has formula C18H14F4N2O4S." []	1137307	\N	\N	EFO	3	EFO	chemical entity	bicalutamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3090	"An amide that has formula C18H14F4N2O4S." []	2020453	\N	\N	EFO	4	EFO	material entity	bicalutamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3090	"An amide that has formula C18H14F4N2O4S." []	3175442	\N	\N	EFO	5	EFO	experimental factor	bicalutamide
CHEBI:30911	\N	\N	"" []	CHEBI:30911	"" []	62288	\N	\N	EFO	0	EFO	glucitol	glucitol
CHEBI:24431	CHEBI:30911	\N	"" []	CHEBI:30911	"" []	201698	\N	\N	EFO	1	EFO	chemical entity	glucitol
CHEBI:37577	CHEBI:30911	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:30911	"" []	201699	\N	\N	EFO	1	EFO	chemical compound	glucitol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:30911	"" []	554602	\N	\N	EFO	2	EFO	chemical entity	glucitol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:30911	"" []	1137308	\N	\N	EFO	3	EFO	material entity	glucitol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:30911	"" []	2020454	\N	\N	EFO	4	EFO	experimental factor	glucitol
CHEBI:3092	\N	\N	"Bicuculline is a light-sensitive competitive antagonist of GABAA receptors. It was originally identified in 1932 in plant alkaloid extracts and has been isolated from Dicentra cucullaria, Adlumia fungosa, Fumariaceae, and several Corydalis species." []	CHEBI:3092	"Bicuculline is a light-sensitive competitive antagonist of GABAA receptors. It was originally identified in 1932 in plant alkaloid extracts and has been isolated from Dicentra cucullaria, Adlumia fungosa, Fumariaceae, and several Corydalis species." []	62289	\N	\N	EFO	0	EFO	bicuculline	bicuculline
CHEBI:37577	CHEBI:3092	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3092	"Bicuculline is a light-sensitive competitive antagonist of GABAA receptors. It was originally identified in 1932 in plant alkaloid extracts and has been isolated from Dicentra cucullaria, Adlumia fungosa, Fumariaceae, and several Corydalis species." []	201700	\N	\N	EFO	1	EFO	chemical compound	bicuculline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3092	"Bicuculline is a light-sensitive competitive antagonist of GABAA receptors. It was originally identified in 1932 in plant alkaloid extracts and has been isolated from Dicentra cucullaria, Adlumia fungosa, Fumariaceae, and several Corydalis species." []	554603	\N	\N	EFO	2	EFO	chemical entity	bicuculline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3092	"Bicuculline is a light-sensitive competitive antagonist of GABAA receptors. It was originally identified in 1932 in plant alkaloid extracts and has been isolated from Dicentra cucullaria, Adlumia fungosa, Fumariaceae, and several Corydalis species." []	1137309	\N	\N	EFO	3	EFO	material entity	bicuculline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3092	"Bicuculline is a light-sensitive competitive antagonist of GABAA receptors. It was originally identified in 1932 in plant alkaloid extracts and has been isolated from Dicentra cucullaria, Adlumia fungosa, Fumariaceae, and several Corydalis species." []	2020455	\N	\N	EFO	4	EFO	experimental factor	bicuculline
CHEBI:31228	\N	\N	"\\"A hydrate that has formula C34H38Cl2N2O5.\\" []" []	CHEBI:31228	"\\"A hydrate that has formula C34H38Cl2N2O5.\\" []" []	62290	\N	\N	EFO	0	EFO	apomorphine hydrochloride	apomorphine hydrochloride
EFO:0004415	CHEBI:31228	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:31228	"\\"A hydrate that has formula C34H38Cl2N2O5.\\" []" []	201701	\N	\N	EFO	1	EFO	ionic salt	apomorphine hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31228	"\\"A hydrate that has formula C34H38Cl2N2O5.\\" []" []	554604	\N	\N	EFO	2	EFO	chemical compound	apomorphine hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:31228	"\\"A hydrate that has formula C34H38Cl2N2O5.\\" []" []	1137310	\N	\N	EFO	3	EFO	chemical entity	apomorphine hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:31228	"\\"A hydrate that has formula C34H38Cl2N2O5.\\" []" []	2020456	\N	\N	EFO	4	EFO	material entity	apomorphine hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:31228	"\\"A hydrate that has formula C34H38Cl2N2O5.\\" []" []	3175443	\N	\N	EFO	5	EFO	experimental factor	apomorphine hydrochloride
CHEBI:31355	\N	\N	"A platinum coordination entity that has formula C6H12N2O4Pt." []	CHEBI:31355	"A platinum coordination entity that has formula C6H12N2O4Pt." []	62291	\N	\N	EFO	0	EFO	carboplatin	carboplatin
CHEBI:23888	CHEBI:31355	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:31355	"A platinum coordination entity that has formula C6H12N2O4Pt." []	201702	\N	\N	EFO	1	EFO	drug	carboplatin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31355	"A platinum coordination entity that has formula C6H12N2O4Pt." []	554605	\N	\N	EFO	2	EFO	chemical compound	carboplatin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:31355	"A platinum coordination entity that has formula C6H12N2O4Pt." []	1137311	\N	\N	EFO	3	EFO	chemical entity	carboplatin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:31355	"A platinum coordination entity that has formula C6H12N2O4Pt." []	2020457	\N	\N	EFO	4	EFO	material entity	carboplatin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:31355	"A platinum coordination entity that has formula C6H12N2O4Pt." []	3175444	\N	\N	EFO	5	EFO	experimental factor	carboplatin
CHEBI:3139	\N	\N	"A bleomycin that has formula C55H84N17O21S3." []	CHEBI:3139	"A bleomycin that has formula C55H84N17O21S3." []	62292	\N	\N	EFO	0	EFO	bleomycin A2	bleomycin A2
CHEBI:37577	CHEBI:3139	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3139	"A bleomycin that has formula C55H84N17O21S3." []	201703	\N	\N	EFO	1	EFO	chemical compound	bleomycin A2
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3139	"A bleomycin that has formula C55H84N17O21S3." []	554606	\N	\N	EFO	2	EFO	chemical entity	bleomycin A2
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3139	"A bleomycin that has formula C55H84N17O21S3." []	1137312	\N	\N	EFO	3	EFO	material entity	bleomycin A2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3139	"A bleomycin that has formula C55H84N17O21S3." []	2020458	\N	\N	EFO	4	EFO	experimental factor	bleomycin A2
CHEBI:31593	\N	\N	"" []	CHEBI:31593	"" []	62293	\N	\N	EFO	0	EFO	fasudil hydrochloride	fasudil hydrochloride
EFO:0004415	CHEBI:31593	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:31593	"" []	201704	\N	\N	EFO	1	EFO	ionic salt	fasudil hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31593	"" []	554607	\N	\N	EFO	2	EFO	chemical compound	fasudil hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:31593	"" []	1137313	\N	\N	EFO	3	EFO	chemical entity	fasudil hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:31593	"" []	2020459	\N	\N	EFO	4	EFO	material entity	fasudil hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:31593	"" []	3175445	\N	\N	EFO	5	EFO	experimental factor	fasudil hydrochloride
CHEBI:31604	\N	\N	"" []	CHEBI:31604	"" []	62294	\N	\N	EFO	0	EFO	ferric ammonium citrate	ferric ammonium citrate
EFO:0004415	CHEBI:31604	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:31604	"" []	201705	\N	\N	EFO	1	EFO	ionic salt	ferric ammonium citrate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31604	"" []	554608	\N	\N	EFO	2	EFO	chemical compound	ferric ammonium citrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:31604	"" []	1137314	\N	\N	EFO	3	EFO	chemical entity	ferric ammonium citrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:31604	"" []	2020460	\N	\N	EFO	4	EFO	material entity	ferric ammonium citrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:31604	"" []	3175446	\N	\N	EFO	5	EFO	experimental factor	ferric ammonium citrate
CHEBI:31638	\N	\N	"A 3-hydroxy steroid that has formula C32H47F5O3S." []	CHEBI:31638	"A 3-hydroxy steroid that has formula C32H47F5O3S." []	62295	\N	\N	EFO	0	EFO	fulvestrant	fulvestrant
CHEBI:37577	CHEBI:31638	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31638	"A 3-hydroxy steroid that has formula C32H47F5O3S." []	201706	\N	\N	EFO	1	EFO	chemical compound	fulvestrant
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:31638	"A 3-hydroxy steroid that has formula C32H47F5O3S." []	554609	\N	\N	EFO	2	EFO	chemical entity	fulvestrant
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:31638	"A 3-hydroxy steroid that has formula C32H47F5O3S." []	1137315	\N	\N	EFO	3	EFO	material entity	fulvestrant
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:31638	"A 3-hydroxy steroid that has formula C32H47F5O3S." []	2020461	\N	\N	EFO	4	EFO	experimental factor	fulvestrant
CHEBI:31690	\N	\N	"" []	CHEBI:31690	"" []	62296	\N	\N	EFO	0	EFO	imatinib methanesulfonate	imatinib methanesulfonate
CHEBI:37577	CHEBI:31690	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31690	"" []	201707	\N	\N	EFO	1	EFO	chemical compound	imatinib methanesulfonate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:31690	"" []	554610	\N	\N	EFO	2	EFO	chemical entity	imatinib methanesulfonate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:31690	"" []	1137316	\N	\N	EFO	3	EFO	material entity	imatinib methanesulfonate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:31690	"" []	2020462	\N	\N	EFO	4	EFO	experimental factor	imatinib methanesulfonate
CHEBI:31746	\N	\N	"A pyrrolidinemonocarboxylic acid that has formula C10H15NO4." []	CHEBI:31746	"A pyrrolidinemonocarboxylic acid that has formula C10H15NO4." []	62297	\N	\N	EFO	0	EFO	kainic acid	kainic acid
CHEBI:23888	CHEBI:31746	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:31746	"A pyrrolidinemonocarboxylic acid that has formula C10H15NO4." []	201708	\N	\N	EFO	1	EFO	drug	kainic acid
EFO:0004416	CHEBI:31746	\N	"" []	CHEBI:31746	"A pyrrolidinemonocarboxylic acid that has formula C10H15NO4." []	201709	\N	\N	EFO	1	EFO	acid	kainic acid
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31746	"A pyrrolidinemonocarboxylic acid that has formula C10H15NO4." []	554611	\N	\N	EFO	2	EFO	chemical compound	kainic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31746	"A pyrrolidinemonocarboxylic acid that has formula C10H15NO4." []	554612	\N	\N	EFO	2	EFO	chemical compound	kainic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:31746	"A pyrrolidinemonocarboxylic acid that has formula C10H15NO4." []	1137317	\N	\N	EFO	3	EFO	chemical entity	kainic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:31746	"A pyrrolidinemonocarboxylic acid that has formula C10H15NO4." []	2020463	\N	\N	EFO	4	EFO	material entity	kainic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:31746	"A pyrrolidinemonocarboxylic acid that has formula C10H15NO4." []	3175447	\N	\N	EFO	5	EFO	experimental factor	kainic acid
CHEBI:3179	\N	\N	"" []	CHEBI:3179	"" []	62298	\N	\N	EFO	0	EFO	bromobenzene	bromobenzene
CHEBI:37577	CHEBI:3179	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3179	"" []	201710	\N	\N	EFO	1	EFO	chemical compound	bromobenzene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3179	"" []	554613	\N	\N	EFO	2	EFO	chemical entity	bromobenzene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3179	"" []	1137318	\N	\N	EFO	3	EFO	material entity	bromobenzene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3179	"" []	2020464	\N	\N	EFO	4	EFO	experimental factor	bromobenzene
CHEBI:3182	\N	\N	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	CHEBI:3182	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	62299	\N	\N	EFO	0	EFO	bromocriptine methanesulfonate	bromocriptine methanesulfonate
CHEBI:23888	CHEBI:3182	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:3182	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	201711	\N	\N	EFO	1	EFO	drug	bromocriptine methanesulfonate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3182	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	554614	\N	\N	EFO	2	EFO	chemical compound	bromocriptine methanesulfonate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3182	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	1137319	\N	\N	EFO	3	EFO	chemical entity	bromocriptine methanesulfonate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3182	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	2020465	\N	\N	EFO	4	EFO	material entity	bromocriptine methanesulfonate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3182	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	3175448	\N	\N	EFO	5	EFO	experimental factor	bromocriptine methanesulfonate
CHEBI:31823	\N	\N	"" []	CHEBI:31823	"" []	62300	\N	\N	EFO	0	EFO	mercury dichloride	mercury dichloride
CHEBI:24431	CHEBI:31823	\N	"" []	CHEBI:31823	"" []	201712	\N	\N	EFO	1	EFO	chemical entity	mercury dichloride
EFO:0004415	CHEBI:31823	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:31823	"" []	201713	\N	\N	EFO	1	EFO	ionic salt	mercury dichloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31823	"" []	554615	\N	\N	EFO	2	EFO	chemical compound	mercury dichloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:31823	"" []	1137320	\N	\N	EFO	3	EFO	chemical entity	mercury dichloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:31823	"" []	2020466	\N	\N	EFO	4	EFO	material entity	mercury dichloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:31823	"" []	3175449	\N	\N	EFO	5	EFO	experimental factor	mercury dichloride
CHEBI:31882	\N	\N	"An aspartic acid derivative having an N-methyl substituent and D-configuration." []	CHEBI:31882	"An aspartic acid derivative having an N-methyl substituent and D-configuration." []	62301	\N	\N	EFO	0	EFO	N-methyl-D-aspartic acid	N-methyl-D-aspartic acid
EFO:0004416	CHEBI:31882	\N	"" []	CHEBI:31882	"An aspartic acid derivative having an N-methyl substituent and D-configuration." []	201714	\N	\N	EFO	1	EFO	acid	N-methyl-D-aspartic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31882	"An aspartic acid derivative having an N-methyl substituent and D-configuration." []	554616	\N	\N	EFO	2	EFO	chemical compound	N-methyl-D-aspartic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:31882	"An aspartic acid derivative having an N-methyl substituent and D-configuration." []	1137321	\N	\N	EFO	3	EFO	chemical entity	N-methyl-D-aspartic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:31882	"An aspartic acid derivative having an N-methyl substituent and D-configuration." []	2020467	\N	\N	EFO	4	EFO	material entity	N-methyl-D-aspartic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:31882	"An aspartic acid derivative having an N-methyl substituent and D-configuration." []	3175450	\N	\N	EFO	5	EFO	experimental factor	N-methyl-D-aspartic acid
CHEBI:31899	\N	\N	"" []	CHEBI:31899	"" []	62302	\N	\N	EFO	0	EFO	nemonapride	nemonapride
CHEBI:23888	CHEBI:31899	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:31899	"" []	201715	\N	\N	EFO	1	EFO	drug	nemonapride
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31899	"" []	554617	\N	\N	EFO	2	EFO	chemical compound	nemonapride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:31899	"" []	1137322	\N	\N	EFO	3	EFO	chemical entity	nemonapride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:31899	"" []	2020468	\N	\N	EFO	4	EFO	material entity	nemonapride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:31899	"" []	3175451	\N	\N	EFO	5	EFO	experimental factor	nemonapride
CHEBI:31941	\N	\N	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	CHEBI:31941	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	62303	\N	\N	EFO	0	EFO	oxaliplatin	oxaliplatin
CHEBI:23888	CHEBI:31941	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:31941	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	201716	\N	\N	EFO	1	EFO	drug	oxaliplatin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31941	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	554618	\N	\N	EFO	2	EFO	chemical compound	oxaliplatin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:31941	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	1137323	\N	\N	EFO	3	EFO	chemical entity	oxaliplatin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:31941	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	2020469	\N	\N	EFO	4	EFO	material entity	oxaliplatin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:31941	"Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development." []	3175452	\N	\N	EFO	5	EFO	experimental factor	oxaliplatin
CHEBI:31991	\N	\N	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	CHEBI:31991	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	62304	\N	\N	EFO	0	EFO	phenol red	phenol red
CHEBI:37577	CHEBI:31991	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:31991	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	201717	\N	\N	EFO	1	EFO	chemical compound	phenol red
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:31991	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	554619	\N	\N	EFO	2	EFO	chemical entity	phenol red
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:31991	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	1137324	\N	\N	EFO	3	EFO	material entity	phenol red
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:31991	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	2020470	\N	\N	EFO	4	EFO	experimental factor	phenol red
CHEBI:32030	\N	\N	"A metal bromide salt with a K(+) counterion." []	CHEBI:32030	"A metal bromide salt with a K(+) counterion." []	62305	\N	\N	EFO	0	EFO	potassium bromide	potassium bromide
EFO:0004415	CHEBI:32030	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:32030	"A metal bromide salt with a K(+) counterion." []	201718	\N	\N	EFO	1	EFO	ionic salt	potassium bromide
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32030	"A metal bromide salt with a K(+) counterion." []	554620	\N	\N	EFO	2	EFO	chemical compound	potassium bromide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32030	"A metal bromide salt with a K(+) counterion." []	1137325	\N	\N	EFO	3	EFO	chemical entity	potassium bromide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32030	"A metal bromide salt with a K(+) counterion." []	2020471	\N	\N	EFO	4	EFO	material entity	potassium bromide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32030	"A metal bromide salt with a K(+) counterion." []	3175453	\N	\N	EFO	5	EFO	experimental factor	potassium bromide
CHEBI:32063	\N	\N	"" []	CHEBI:32063	"" []	62306	\N	\N	EFO	0	EFO	propylparaben	propylparaben
CHEBI:23888	CHEBI:32063	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:32063	"" []	201719	\N	\N	EFO	1	EFO	drug	propylparaben
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32063	"" []	554621	\N	\N	EFO	2	EFO	chemical compound	propylparaben
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32063	"" []	1137326	\N	\N	EFO	3	EFO	chemical entity	propylparaben
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32063	"" []	2020472	\N	\N	EFO	4	EFO	material entity	propylparaben
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32063	"" []	3175454	\N	\N	EFO	5	EFO	experimental factor	propylparaben
CHEBI:32120	\N	\N	"" []	CHEBI:32120	"" []	62307	\N	\N	EFO	0	EFO	sapropterin dihydrochloride	sapropterin dihydrochloride
EFO:0004415	CHEBI:32120	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:32120	"" []	201720	\N	\N	EFO	1	EFO	ionic salt	sapropterin dihydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32120	"" []	554622	\N	\N	EFO	2	EFO	chemical compound	sapropterin dihydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32120	"" []	1137327	\N	\N	EFO	3	EFO	chemical entity	sapropterin dihydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32120	"" []	2020473	\N	\N	EFO	4	EFO	material entity	sapropterin dihydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32120	"" []	3175455	\N	\N	EFO	5	EFO	experimental factor	sapropterin dihydrochloride
CHEBI:32145	\N	\N	"" []	CHEBI:32145	"" []	62308	\N	\N	EFO	0	EFO	sodium hydroxide	sodium hydroxide
CHEBI:37577	CHEBI:32145	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32145	"" []	201721	\N	\N	EFO	1	EFO	chemical compound	sodium hydroxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32145	"" []	554623	\N	\N	EFO	2	EFO	chemical entity	sodium hydroxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32145	"" []	1137328	\N	\N	EFO	3	EFO	material entity	sodium hydroxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32145	"" []	2020474	\N	\N	EFO	4	EFO	experimental factor	sodium hydroxide
CHEBI:32168	\N	\N	"" []	CHEBI:32168	"" []	62309	\N	\N	EFO	0	EFO	sulpiride	sulpiride
CHEBI:37577	CHEBI:32168	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32168	"" []	201722	\N	\N	EFO	1	EFO	chemical compound	sulpiride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32168	"" []	554624	\N	\N	EFO	2	EFO	chemical entity	sulpiride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32168	"" []	1137329	\N	\N	EFO	3	EFO	material entity	sulpiride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32168	"" []	2020475	\N	\N	EFO	4	EFO	experimental factor	sulpiride
CHEBI:3237	\N	\N	"" []	CHEBI:3237	"" []	62310	\N	\N	EFO	0	EFO	butein	butein
CHEBI:23888	CHEBI:3237	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:3237	"" []	201723	\N	\N	EFO	1	EFO	drug	butein
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3237	"" []	554625	\N	\N	EFO	2	EFO	chemical compound	butein
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3237	"" []	1137330	\N	\N	EFO	3	EFO	chemical entity	butein
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3237	"" []	2020476	\N	\N	EFO	4	EFO	material entity	butein
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3237	"" []	3175456	\N	\N	EFO	5	EFO	experimental factor	butein
CHEBI:32497	\N	\N	"" []	CHEBI:32497	"" []	62311	\N	\N	EFO	0	EFO	thioacetamide	thioacetamide
CHEBI:37577	CHEBI:32497	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32497	"" []	201724	\N	\N	EFO	1	EFO	chemical compound	thioacetamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32497	"" []	554626	\N	\N	EFO	2	EFO	chemical entity	thioacetamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32497	"" []	1137331	\N	\N	EFO	3	EFO	material entity	thioacetamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32497	"" []	2020477	\N	\N	EFO	4	EFO	experimental factor	thioacetamide
CHEBI:32509	\N	\N	"" []	CHEBI:32509	"" []	62312	\N	\N	EFO	0	EFO	pirinixic acid	pirinixic acid
EFO:0004416	CHEBI:32509	\N	"" []	CHEBI:32509	"" []	201725	\N	\N	EFO	1	EFO	acid	pirinixic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32509	"" []	554627	\N	\N	EFO	2	EFO	chemical compound	pirinixic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32509	"" []	1137332	\N	\N	EFO	3	EFO	chemical entity	pirinixic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32509	"" []	2020478	\N	\N	EFO	4	EFO	material entity	pirinixic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32509	"" []	3175457	\N	\N	EFO	5	EFO	experimental factor	pirinixic acid
CHEBI:32585	\N	\N	"A hydroxyaldehyde that has formula C9H16O2." []	CHEBI:32585	"A hydroxyaldehyde that has formula C9H16O2." []	62313	\N	\N	EFO	0	EFO	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal
CHEBI:37577	CHEBI:32585	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32585	"A hydroxyaldehyde that has formula C9H16O2." []	201726	\N	\N	EFO	1	EFO	chemical compound	4-hydroxy-2-nonenal
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32585	"A hydroxyaldehyde that has formula C9H16O2." []	554628	\N	\N	EFO	2	EFO	chemical entity	4-hydroxy-2-nonenal
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32585	"A hydroxyaldehyde that has formula C9H16O2." []	1137333	\N	\N	EFO	3	EFO	material entity	4-hydroxy-2-nonenal
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32585	"A hydroxyaldehyde that has formula C9H16O2." []	2020479	\N	\N	EFO	4	EFO	experimental factor	4-hydroxy-2-nonenal
CHEBI:32588	\N	\N	"" []	CHEBI:32588	"" []	62314	\N	\N	EFO	0	EFO	potassium chloride	potassium chloride
CHEBI:24431	CHEBI:32588	\N	"" []	CHEBI:32588	"" []	201727	\N	\N	EFO	1	EFO	chemical entity	potassium chloride
EFO:0004415	CHEBI:32588	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:32588	"" []	201728	\N	\N	EFO	1	EFO	ionic salt	potassium chloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32588	"" []	554629	\N	\N	EFO	2	EFO	chemical compound	potassium chloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32588	"" []	1137334	\N	\N	EFO	3	EFO	chemical entity	potassium chloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32588	"" []	2020480	\N	\N	EFO	4	EFO	material entity	potassium chloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32588	"" []	3175458	\N	\N	EFO	5	EFO	experimental factor	potassium chloride
CHEBI:32599	\N	\N	"A magnesium salt having sulfate as the counterion." []	CHEBI:32599	"A magnesium salt having sulfate as the counterion." []	62315	\N	\N	EFO	0	EFO	magnesium sulfate {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	magnesium sulfate {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:24431	CHEBI:32599	\N	"" []	CHEBI:32599	"A magnesium salt having sulfate as the counterion." []	201729	\N	\N	EFO	1	EFO	chemical entity	magnesium sulfate {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:24431	CHEBI:32599	\N	"" []	CHEBI:32599	"A magnesium salt having sulfate as the counterion." []	201730	\N	\N	EFO	1	EFO	chemical entity	magnesium sulfate {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32599	"A magnesium salt having sulfate as the counterion." []	554630	\N	\N	EFO	2	EFO	material entity	magnesium sulfate {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32599	"A magnesium salt having sulfate as the counterion." []	1137335	\N	\N	EFO	3	EFO	experimental factor	magnesium sulfate {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:32687	\N	\N	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	CHEBI:32687	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	62316	\N	\N	EFO	0	EFO	piperonylbutoxide	piperonylbutoxide
CHEBI:37577	CHEBI:32687	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32687	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	201731	\N	\N	EFO	1	EFO	chemical compound	piperonylbutoxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32687	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	554631	\N	\N	EFO	2	EFO	chemical entity	piperonylbutoxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32687	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	1137336	\N	\N	EFO	3	EFO	material entity	piperonylbutoxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32687	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	2020481	\N	\N	EFO	4	EFO	experimental factor	piperonylbutoxide
CHEBI:32692	\N	\N	"A nitrosamine that has formula C10H13N3O2." []	CHEBI:32692	"A nitrosamine that has formula C10H13N3O2." []	62317	\N	\N	EFO	0	EFO	4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone	4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone
CHEBI:37577	CHEBI:32692	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32692	"A nitrosamine that has formula C10H13N3O2." []	201732	\N	\N	EFO	1	EFO	chemical compound	4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32692	"A nitrosamine that has formula C10H13N3O2." []	554632	\N	\N	EFO	2	EFO	chemical entity	4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32692	"A nitrosamine that has formula C10H13N3O2." []	1137337	\N	\N	EFO	3	EFO	material entity	4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32692	"A nitrosamine that has formula C10H13N3O2." []	2020482	\N	\N	EFO	4	EFO	experimental factor	4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone
CHEBI:32902	\N	\N	"" []	CHEBI:32902	"" []	62318	\N	\N	EFO	0	EFO	gibberellin A4	gibberellin A4
CHEBI:37577	CHEBI:32902	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32902	"" []	201733	\N	\N	EFO	1	EFO	chemical compound	gibberellin A4
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32902	"" []	554633	\N	\N	EFO	2	EFO	chemical entity	gibberellin A4
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32902	"" []	1137338	\N	\N	EFO	3	EFO	material entity	gibberellin A4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32902	"" []	2020483	\N	\N	EFO	4	EFO	experimental factor	gibberellin A4
CHEBI:32918	\N	\N	"A naphthylacetic acid that has formula C12H10O2." []	CHEBI:32918	"A naphthylacetic acid that has formula C12H10O2." []	62319	\N	\N	EFO	0	EFO	1-naphthylacetic acid	1-naphthylacetic acid
EFO:0004416	CHEBI:32918	\N	"" []	CHEBI:32918	"A naphthylacetic acid that has formula C12H10O2." []	201734	\N	\N	EFO	1	EFO	acid	1-naphthylacetic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:32918	"A naphthylacetic acid that has formula C12H10O2." []	554634	\N	\N	EFO	2	EFO	chemical compound	1-naphthylacetic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:32918	"A naphthylacetic acid that has formula C12H10O2." []	1137339	\N	\N	EFO	3	EFO	chemical entity	1-naphthylacetic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:32918	"A naphthylacetic acid that has formula C12H10O2." []	2020484	\N	\N	EFO	4	EFO	material entity	1-naphthylacetic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:32918	"A naphthylacetic acid that has formula C12H10O2." []	3175459	\N	\N	EFO	5	EFO	experimental factor	1-naphthylacetic acid
CHEBI:33083	\N	\N	"An ortho- and peri-fused polycyclic arene that has formula C16H10." []	CHEBI:33083	"An ortho- and peri-fused polycyclic arene that has formula C16H10." []	62320	\N	\N	EFO	0	EFO	fluroanthene	fluroanthene
CHEBI:37577	CHEBI:33083	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:33083	"An ortho- and peri-fused polycyclic arene that has formula C16H10." []	201735	\N	\N	EFO	1	EFO	chemical compound	fluroanthene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:33083	"An ortho- and peri-fused polycyclic arene that has formula C16H10." []	554635	\N	\N	EFO	2	EFO	chemical entity	fluroanthene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33083	"An ortho- and peri-fused polycyclic arene that has formula C16H10." []	1137340	\N	\N	EFO	3	EFO	material entity	fluroanthene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33083	"An ortho- and peri-fused polycyclic arene that has formula C16H10." []	2020485	\N	\N	EFO	4	EFO	experimental factor	fluroanthene
CHEBI:33097	\N	\N	"A member of the 4-nitrotoluenes that has formula C7H7NO2." []	CHEBI:33097	"A member of the 4-nitrotoluenes that has formula C7H7NO2." []	62321	\N	\N	EFO	0	EFO	P-nitrotoluene	P-nitrotoluene
CHEBI:37577	CHEBI:33097	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:33097	"A member of the 4-nitrotoluenes that has formula C7H7NO2." []	201736	\N	\N	EFO	1	EFO	chemical compound	P-nitrotoluene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:33097	"A member of the 4-nitrotoluenes that has formula C7H7NO2." []	554636	\N	\N	EFO	2	EFO	chemical entity	P-nitrotoluene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33097	"A member of the 4-nitrotoluenes that has formula C7H7NO2." []	1137341	\N	\N	EFO	3	EFO	material entity	P-nitrotoluene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33097	"A member of the 4-nitrotoluenes that has formula C7H7NO2." []	2020486	\N	\N	EFO	4	EFO	experimental factor	P-nitrotoluene
CHEBI:33098	\N	\N	"A nitrotoluene that has formula C7H7NO2." []	CHEBI:33098	"A nitrotoluene that has formula C7H7NO2." []	62322	\N	\N	EFO	0	EFO	O-nitrotoluene	O-nitrotoluene
CHEBI:37577	CHEBI:33098	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:33098	"A nitrotoluene that has formula C7H7NO2." []	201737	\N	\N	EFO	1	EFO	chemical compound	O-nitrotoluene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:33098	"A nitrotoluene that has formula C7H7NO2." []	554637	\N	\N	EFO	2	EFO	chemical entity	O-nitrotoluene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33098	"A nitrotoluene that has formula C7H7NO2." []	1137342	\N	\N	EFO	3	EFO	material entity	O-nitrotoluene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33098	"A nitrotoluene that has formula C7H7NO2." []	2020487	\N	\N	EFO	4	EFO	experimental factor	O-nitrotoluene
CHEBI:3312	\N	\N	"An inorganic chloride salt that has formula CaCl2." []	CHEBI:3312	"An inorganic chloride salt that has formula CaCl2." []	62323	\N	\N	EFO	0	EFO	calcium chloride	calcium chloride
CHEBI:24431	CHEBI:3312	\N	"" []	CHEBI:3312	"An inorganic chloride salt that has formula CaCl2." []	201738	\N	\N	EFO	1	EFO	chemical entity	calcium chloride
EFO:0004415	CHEBI:3312	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:3312	"An inorganic chloride salt that has formula CaCl2." []	201739	\N	\N	EFO	1	EFO	ionic salt	calcium chloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3312	"An inorganic chloride salt that has formula CaCl2." []	554638	\N	\N	EFO	2	EFO	chemical compound	calcium chloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3312	"An inorganic chloride salt that has formula CaCl2." []	1137343	\N	\N	EFO	3	EFO	chemical entity	calcium chloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3312	"An inorganic chloride salt that has formula CaCl2." []	2020488	\N	\N	EFO	4	EFO	material entity	calcium chloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3312	"An inorganic chloride salt that has formula CaCl2." []	3175460	\N	\N	EFO	5	EFO	experimental factor	calcium chloride
CHEBI:33130	\N	\N	"A member of the aluminium hydroxides that has formula H3AlO3." []	CHEBI:33130	"A member of the aluminium hydroxides that has formula H3AlO3." []	62324	\N	\N	EFO	0	EFO	aluminium hydroxide	aluminium hydroxide
CHEBI:37577	CHEBI:33130	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:33130	"A member of the aluminium hydroxides that has formula H3AlO3." []	201740	\N	\N	EFO	1	EFO	chemical compound	aluminium hydroxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:33130	"A member of the aluminium hydroxides that has formula H3AlO3." []	554639	\N	\N	EFO	2	EFO	chemical entity	aluminium hydroxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33130	"A member of the aluminium hydroxides that has formula H3AlO3." []	1137344	\N	\N	EFO	3	EFO	material entity	aluminium hydroxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33130	"A member of the aluminium hydroxides that has formula H3AlO3." []	2020489	\N	\N	EFO	4	EFO	experimental factor	aluminium hydroxide
CHEBI:33146	\N	\N	"" []	CHEBI:33146	"" []	62325	\N	\N	EFO	0	EFO	vanadyl sulfate	vanadyl sulfate
CHEBI:37577	CHEBI:33146	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:33146	"" []	201741	\N	\N	EFO	1	EFO	chemical compound	vanadyl sulfate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:33146	"" []	554640	\N	\N	EFO	2	EFO	chemical entity	vanadyl sulfate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33146	"" []	1137345	\N	\N	EFO	3	EFO	material entity	vanadyl sulfate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33146	"" []	2020490	\N	\N	EFO	4	EFO	experimental factor	vanadyl sulfate
CHEBI:3319	\N	\N	"" []	CHEBI:3319	"" []	62326	\N	\N	EFO	0	EFO	calicheamicin gamma1(I)	calicheamicin gamma1(I)
CHEBI:37577	CHEBI:3319	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3319	"" []	201742	\N	\N	EFO	1	EFO	chemical compound	calicheamicin gamma1(I)
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3319	"" []	554641	\N	\N	EFO	2	EFO	chemical entity	calicheamicin gamma1(I)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3319	"" []	1137346	\N	\N	EFO	3	EFO	material entity	calicheamicin gamma1(I)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3319	"" []	2020491	\N	\N	EFO	4	EFO	experimental factor	calicheamicin gamma1(I)
CHEBI:33216	\N	\N	"A bisphenol that has formula C15H16O2." []	CHEBI:33216	"A bisphenol that has formula C15H16O2." []	62327	\N	\N	EFO	0	EFO	bisphenol A	bisphenol A
CHEBI:37577	CHEBI:33216	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:33216	"A bisphenol that has formula C15H16O2." []	201743	\N	\N	EFO	1	EFO	chemical compound	bisphenol A
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:33216	"A bisphenol that has formula C15H16O2." []	554642	\N	\N	EFO	2	EFO	chemical entity	bisphenol A
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33216	"A bisphenol that has formula C15H16O2." []	1137347	\N	\N	EFO	3	EFO	material entity	bisphenol A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33216	"A bisphenol that has formula C15H16O2." []	2020492	\N	\N	EFO	4	EFO	experimental factor	bisphenol A
CHEBI:33229	\N	\N	"An organic substance that is distributed in foodstuffs, is distinct from the main organic components of food (protein, carbohydrate and fat) and is needed for the normal nutrition of the organism in question. The term \\"vitamines\\" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines." []	CHEBI:33229	"An organic substance that is distributed in foodstuffs, is distinct from the main organic components of food (protein, carbohydrate and fat) and is needed for the normal nutrition of the organism in question. The term \\"vitamines\\" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines." []	62328	\N	\N	EFO	0	EFO	vitamin	vitamin
CHEBI:24432	CHEBI:33229	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:33229	"An organic substance that is distributed in foodstuffs, is distinct from the main organic components of food (protein, carbohydrate and fat) and is needed for the normal nutrition of the organism in question. The term \\"vitamines\\" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines." []	201744	\N	\N	EFO	1	EFO	biological role	vitamin
CHEBI:51086	CHEBI:33229	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:33229	"An organic substance that is distributed in foodstuffs, is distinct from the main organic components of food (protein, carbohydrate and fat) and is needed for the normal nutrition of the organism in question. The term \\"vitamines\\" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines." []	201745	\N	\N	EFO	1	EFO	chemical role	vitamin
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:33229	"An organic substance that is distributed in foodstuffs, is distinct from the main organic components of food (protein, carbohydrate and fat) and is needed for the normal nutrition of the organism in question. The term \\"vitamines\\" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines." []	554643	\N	\N	EFO	2	EFO	role	vitamin
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:33229	"An organic substance that is distributed in foodstuffs, is distinct from the main organic components of food (protein, carbohydrate and fat) and is needed for the normal nutrition of the organism in question. The term \\"vitamines\\" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines." []	554644	\N	\N	EFO	2	EFO	role	vitamin
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:33229	"An organic substance that is distributed in foodstuffs, is distinct from the main organic components of food (protein, carbohydrate and fat) and is needed for the normal nutrition of the organism in question. The term \\"vitamines\\" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines." []	1137348	\N	\N	EFO	3	EFO	material property	vitamin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33229	"An organic substance that is distributed in foodstuffs, is distinct from the main organic components of food (protein, carbohydrate and fat) and is needed for the normal nutrition of the organism in question. The term \\"vitamines\\" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines." []	2020493	\N	\N	EFO	4	EFO	experimental factor	vitamin
CHEBI:33232	\N	\N	"Intended use of the molecular entity or part thereof by humans." []	CHEBI:33232	"Intended use of the molecular entity or part thereof by humans." []	62329	\N	\N	EFO	0	EFO	application	application
BFO:0000023	CHEBI:33232	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:33232	"Intended use of the molecular entity or part thereof by humans." []	201746	\N	\N	EFO	1	EFO	role	application
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:33232	"Intended use of the molecular entity or part thereof by humans." []	554645	\N	\N	EFO	2	EFO	material property	application
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33232	"Intended use of the molecular entity or part thereof by humans." []	1137349	\N	\N	EFO	3	EFO	experimental factor	application
CHEBI:33250	\N	\N	"" []	CHEBI:33250	"" []	62330	\N	\N	EFO	0	EFO	element	element
CHEBI:24431	CHEBI:33250	\N	"" []	CHEBI:33250	"" []	201747	\N	\N	EFO	1	EFO	chemical entity	element
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33250	"" []	554646	\N	\N	EFO	2	EFO	material entity	element
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33250	"" []	1137350	\N	\N	EFO	3	EFO	experimental factor	element
CHEBI:33284	\N	\N	"The food provided to the organism (e.g., chow, fertilizer, DEMM 10%FBS, etc.)." []	CHEBI:33284	"The food provided to the organism (e.g., chow, fertilizer, DEMM 10%FBS, etc.)." []	62332	\N	\N	EFO	0	EFO	nutrient	nutrient
EFO:0000523	CHEBI:33284	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	CHEBI:33284	"The food provided to the organism (e.g., chow, fertilizer, DEMM 10%FBS, etc.)." []	201748	\N	\N	EFO	1	EFO	growth condition	nutrient
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:33284	"The food provided to the organism (e.g., chow, fertilizer, DEMM 10%FBS, etc.)." []	554647	\N	\N	EFO	2	EFO	biological role	nutrient
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:33284	"The food provided to the organism (e.g., chow, fertilizer, DEMM 10%FBS, etc.)." []	1137351	\N	\N	EFO	3	EFO	role	nutrient
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:33284	"The food provided to the organism (e.g., chow, fertilizer, DEMM 10%FBS, etc.)." []	2020494	\N	\N	EFO	4	EFO	material property	nutrient
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33284	"The food provided to the organism (e.g., chow, fertilizer, DEMM 10%FBS, etc.)." []	3175461	\N	\N	EFO	5	EFO	experimental factor	nutrient
CHEBI:33286	\N	\N	"An agrochemical is a substance that is used in agriculture or horticulture." []	CHEBI:33286	"An agrochemical is a substance that is used in agriculture or horticulture." []	62333	\N	\N	EFO	0	EFO	agrochemical role	agrochemical role
CHEBI:51086	CHEBI:33286	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:33286	"An agrochemical is a substance that is used in agriculture or horticulture." []	201749	\N	\N	EFO	1	EFO	chemical role	agrochemical role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:33286	"An agrochemical is a substance that is used in agriculture or horticulture." []	554648	\N	\N	EFO	2	EFO	role	agrochemical role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:33286	"An agrochemical is a substance that is used in agriculture or horticulture." []	1137352	\N	\N	EFO	3	EFO	material property	agrochemical role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33286	"An agrochemical is a substance that is used in agriculture or horticulture." []	2020495	\N	\N	EFO	4	EFO	experimental factor	agrochemical role
CHEBI:33287	\N	\N	"" []	CHEBI:33287	"" []	62334	\N	\N	EFO	0	EFO	fertilizer	fertilizer
CHEBI:33286	CHEBI:33287	\N	"An agrochemical is a substance that is used in agriculture or horticulture." []	CHEBI:33287	"" []	201750	\N	\N	EFO	1	EFO	agrochemical role	fertilizer
CHEBI:51086	CHEBI:33286	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:33287	"" []	554649	\N	\N	EFO	2	EFO	chemical role	fertilizer
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:33287	"" []	1137353	\N	\N	EFO	3	EFO	role	fertilizer
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:33287	"" []	2020496	\N	\N	EFO	4	EFO	material property	fertilizer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33287	"" []	3175462	\N	\N	EFO	5	EFO	experimental factor	fertilizer
CHEBI:3347	\N	\N	"A chromosome band present on 10p" []	CHEBI:3347	"A chromosome band present on 10p" []	62335	\N	\N	EFO	0	EFO	candesartan	candesartan
CHEBI:23888	CHEBI:3347	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:3347	"A chromosome band present on 10p" []	201751	\N	\N	EFO	1	EFO	drug	candesartan
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3347	"A chromosome band present on 10p" []	554650	\N	\N	EFO	2	EFO	chemical compound	candesartan
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3347	"A chromosome band present on 10p" []	1137354	\N	\N	EFO	3	EFO	chemical entity	candesartan
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3347	"A chromosome band present on 10p" []	2020497	\N	\N	EFO	4	EFO	material entity	candesartan
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3347	"A chromosome band present on 10p" []	3175463	\N	\N	EFO	5	EFO	experimental factor	candesartan
CHEBI:33568	\N	\N	"A catecholamine that has formula C9H13NO3." []	CHEBI:33568	"A catecholamine that has formula C9H13NO3." []	62336	\N	\N	EFO	0	EFO	adrenaline	adrenaline
CHEBI:24621	CHEBI:33568	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:33568	"A catecholamine that has formula C9H13NO3." []	201752	\N	\N	EFO	1	EFO	hormone	adrenaline
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:33568	"A catecholamine that has formula C9H13NO3." []	554651	\N	\N	EFO	2	EFO	chemical compound	adrenaline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:33568	"A catecholamine that has formula C9H13NO3." []	1137355	\N	\N	EFO	3	EFO	chemical entity	adrenaline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33568	"A catecholamine that has formula C9H13NO3." []	2020498	\N	\N	EFO	4	EFO	material entity	adrenaline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33568	"A catecholamine that has formula C9H13NO3." []	3175464	\N	\N	EFO	5	EFO	experimental factor	adrenaline
CHEBI:33697	\N	\N	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	CHEBI:33697	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	62337	\N	\N	EFO	0	EFO	RNA	RNA
CHEBI:37577	CHEBI:33697	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:33697	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	201753	\N	\N	EFO	1	EFO	chemical compound	RNA
EFO:0004446	CHEBI:33697	\N	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	CHEBI:33697	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	201754	\N	\N	EFO	1	EFO	biological macromolecule	RNA
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:33697	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	554652	\N	\N	EFO	2	EFO	chemical entity	RNA
BFO:0000040	EFO:0004446	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33697	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	554653	\N	\N	EFO	2	EFO	material entity	RNA
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33697	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	1137356	\N	\N	EFO	3	EFO	material entity	RNA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33697	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	2020499	\N	\N	EFO	4	EFO	experimental factor	RNA
CHEBI:33699	\N	\N	"An RNA molecule that transfers the coding information for protein synthesis from the chromosomes to the ribosomes mRNA is formed from a DNA template by transcription. It may be a copy of a single gene or of several adjacent genes (polycistronic mRNA). On the ribosome, the sequence is converted into the programmed amino acid sequence through translation." []	CHEBI:33699	"An RNA molecule that transfers the coding information for protein synthesis from the chromosomes to the ribosomes mRNA is formed from a DNA template by transcription. It may be a copy of a single gene or of several adjacent genes (polycistronic mRNA). On the ribosome, the sequence is converted into the programmed amino acid sequence through translation." []	62338	\N	\N	EFO	0	EFO	messenger RNA	messenger RNA
CHEBI:33697	CHEBI:33699	\N	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	CHEBI:33699	"An RNA molecule that transfers the coding information for protein synthesis from the chromosomes to the ribosomes mRNA is formed from a DNA template by transcription. It may be a copy of a single gene or of several adjacent genes (polycistronic mRNA). On the ribosome, the sequence is converted into the programmed amino acid sequence through translation." []	201755	\N	\N	EFO	1	EFO	RNA	messenger RNA
CHEBI:37577	CHEBI:33697	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:33699	"An RNA molecule that transfers the coding information for protein synthesis from the chromosomes to the ribosomes mRNA is formed from a DNA template by transcription. It may be a copy of a single gene or of several adjacent genes (polycistronic mRNA). On the ribosome, the sequence is converted into the programmed amino acid sequence through translation." []	554654	\N	\N	EFO	2	EFO	chemical compound	messenger RNA
EFO:0004446	CHEBI:33697	\N	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	CHEBI:33699	"An RNA molecule that transfers the coding information for protein synthesis from the chromosomes to the ribosomes mRNA is formed from a DNA template by transcription. It may be a copy of a single gene or of several adjacent genes (polycistronic mRNA). On the ribosome, the sequence is converted into the programmed amino acid sequence through translation." []	554655	\N	\N	EFO	2	EFO	biological macromolecule	messenger RNA
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:33699	"An RNA molecule that transfers the coding information for protein synthesis from the chromosomes to the ribosomes mRNA is formed from a DNA template by transcription. It may be a copy of a single gene or of several adjacent genes (polycistronic mRNA). On the ribosome, the sequence is converted into the programmed amino acid sequence through translation." []	1137358	\N	\N	EFO	3	EFO	chemical entity	messenger RNA
BFO:0000040	EFO:0004446	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33699	"An RNA molecule that transfers the coding information for protein synthesis from the chromosomes to the ribosomes mRNA is formed from a DNA template by transcription. It may be a copy of a single gene or of several adjacent genes (polycistronic mRNA). On the ribosome, the sequence is converted into the programmed amino acid sequence through translation." []	1137359	\N	\N	EFO	3	EFO	material entity	messenger RNA
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33699	"An RNA molecule that transfers the coding information for protein synthesis from the chromosomes to the ribosomes mRNA is formed from a DNA template by transcription. It may be a copy of a single gene or of several adjacent genes (polycistronic mRNA). On the ribosome, the sequence is converted into the programmed amino acid sequence through translation." []	2020500	\N	\N	EFO	4	EFO	material entity	messenger RNA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33699	"An RNA molecule that transfers the coding information for protein synthesis from the chromosomes to the ribosomes mRNA is formed from a DNA template by transcription. It may be a copy of a single gene or of several adjacent genes (polycistronic mRNA). On the ribosome, the sequence is converted into the programmed amino acid sequence through translation." []	3175465	\N	\N	EFO	5	EFO	experimental factor	messenger RNA
CHEBI:33709	\N	\N	"" []	CHEBI:33709	"" []	62339	\N	\N	EFO	0	EFO	amino acid	amino acid
EFO:0004416	CHEBI:33709	\N	"" []	CHEBI:33709	"" []	201756	\N	\N	EFO	1	EFO	acid	amino acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:33709	"" []	554656	\N	\N	EFO	2	EFO	chemical compound	amino acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:33709	"" []	1137360	\N	\N	EFO	3	EFO	chemical entity	amino acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:33709	"" []	2020502	\N	\N	EFO	4	EFO	material entity	amino acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:33709	"" []	3175466	\N	\N	EFO	5	EFO	experimental factor	amino acid
CHEBI:3380	\N	\N	"" []	CHEBI:3380	"" []	62340	\N	\N	EFO	0	EFO	captopril	captopril
CHEBI:37577	CHEBI:3380	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3380	"" []	201757	\N	\N	EFO	1	EFO	chemical compound	captopril
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3380	"" []	554657	\N	\N	EFO	2	EFO	chemical entity	captopril
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3380	"" []	1137361	\N	\N	EFO	3	EFO	material entity	captopril
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3380	"" []	2020503	\N	\N	EFO	4	EFO	experimental factor	captopril
CHEBI:3387	\N	\N	"An iminostilbene derivative with a carbamoyl group at the azepine nitrogen, used as an anticonvulsant." []	CHEBI:3387	"An iminostilbene derivative with a carbamoyl group at the azepine nitrogen, used as an anticonvulsant." []	62341	\N	\N	EFO	0	EFO	carbamazepine	carbamazepine
CHEBI:59219	CHEBI:3387	\N	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	CHEBI:3387	"An iminostilbene derivative with a carbamoyl group at the azepine nitrogen, used as an anticonvulsant." []	201758	\N	\N	EFO	1	EFO	caerulein	carbamazepine
CHEBI:37577	CHEBI:59219	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3387	"An iminostilbene derivative with a carbamoyl group at the azepine nitrogen, used as an anticonvulsant." []	554658	\N	\N	EFO	2	EFO	chemical compound	carbamazepine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3387	"An iminostilbene derivative with a carbamoyl group at the azepine nitrogen, used as an anticonvulsant." []	1137362	\N	\N	EFO	3	EFO	chemical entity	carbamazepine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3387	"An iminostilbene derivative with a carbamoyl group at the azepine nitrogen, used as an anticonvulsant." []	2020504	\N	\N	EFO	4	EFO	material entity	carbamazepine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3387	"An iminostilbene derivative with a carbamoyl group at the azepine nitrogen, used as an anticonvulsant." []	3175467	\N	\N	EFO	5	EFO	experimental factor	carbamazepine
CHEBI:3390	\N	\N	"A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity.  Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)" []	CHEBI:3390	"A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity.  Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)" []	62342	\N	\N	EFO	0	EFO	carbaryl	carbaryl
CHEBI:37577	CHEBI:3390	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3390	"A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity.  Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)" []	201759	\N	\N	EFO	1	EFO	chemical compound	carbaryl
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3390	"A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity.  Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)" []	554659	\N	\N	EFO	2	EFO	chemical entity	carbaryl
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3390	"A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity.  Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)" []	1137363	\N	\N	EFO	3	EFO	material entity	carbaryl
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3390	"A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity.  Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)" []	2020505	\N	\N	EFO	4	EFO	experimental factor	carbaryl
CHEBI:34005	\N	\N	"The (9R,13R)-diastereomer of 12-oxophytodienoic acid." []	CHEBI:34005	"The (9R,13R)-diastereomer of 12-oxophytodienoic acid." []	62343	\N	\N	EFO	0	EFO	(9R,13R)-12-oxo-phytodienoic acid	(9R,13R)-12-oxo-phytodienoic acid
EFO:0004416	CHEBI:34005	\N	"" []	CHEBI:34005	"The (9R,13R)-diastereomer of 12-oxophytodienoic acid." []	201760	\N	\N	EFO	1	EFO	acid	(9R,13R)-12-oxo-phytodienoic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34005	"The (9R,13R)-diastereomer of 12-oxophytodienoic acid." []	554660	\N	\N	EFO	2	EFO	chemical compound	(9R,13R)-12-oxo-phytodienoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34005	"The (9R,13R)-diastereomer of 12-oxophytodienoic acid." []	1137364	\N	\N	EFO	3	EFO	chemical entity	(9R,13R)-12-oxo-phytodienoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34005	"The (9R,13R)-diastereomer of 12-oxophytodienoic acid." []	2020506	\N	\N	EFO	4	EFO	material entity	(9R,13R)-12-oxo-phytodienoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34005	"The (9R,13R)-diastereomer of 12-oxophytodienoic acid." []	3175468	\N	\N	EFO	5	EFO	experimental factor	(9R,13R)-12-oxo-phytodienoic acid
CHEBI:34165	\N	\N	"" []	CHEBI:34165	"" []	62344	\N	\N	EFO	0	EFO	16-ketoestradiol	16-ketoestradiol
CHEBI:37577	CHEBI:34165	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34165	"" []	201761	\N	\N	EFO	1	EFO	chemical compound	16-ketoestradiol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34165	"" []	554661	\N	\N	EFO	2	EFO	chemical entity	16-ketoestradiol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34165	"" []	1137365	\N	\N	EFO	3	EFO	material entity	16-ketoestradiol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34165	"" []	2020507	\N	\N	EFO	4	EFO	experimental factor	16-ketoestradiol
CHEBI:3440	\N	\N	"" []	CHEBI:3440	"" []	62345	\N	\N	EFO	0	EFO	carvacrol	carvacrol
CHEBI:37577	CHEBI:3440	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3440	"" []	201762	\N	\N	EFO	1	EFO	chemical compound	carvacrol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3440	"" []	554662	\N	\N	EFO	2	EFO	chemical entity	carvacrol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3440	"" []	1137366	\N	\N	EFO	3	EFO	material entity	carvacrol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3440	"" []	2020508	\N	\N	EFO	4	EFO	experimental factor	carvacrol
CHEBI:34440	\N	\N	"" []	CHEBI:34440	"" []	62346	\N	\N	EFO	0	EFO	4-nonylphenol	4-nonylphenol
CHEBI:37577	CHEBI:34440	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34440	"" []	201763	\N	\N	EFO	1	EFO	chemical compound	4-nonylphenol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34440	"" []	554663	\N	\N	EFO	2	EFO	chemical entity	4-nonylphenol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34440	"" []	1137367	\N	\N	EFO	3	EFO	material entity	4-nonylphenol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34440	"" []	2020509	\N	\N	EFO	4	EFO	experimental factor	4-nonylphenol
CHEBI:34631	\N	\N	"An organochlorine acaricide that has formula C9H11Cl3NO3PS." []	CHEBI:34631	"An organochlorine acaricide that has formula C9H11Cl3NO3PS." []	62347	\N	\N	EFO	0	EFO	chlorpyrifos	chlorpyrifos
CHEBI:37577	CHEBI:34631	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34631	"An organochlorine acaricide that has formula C9H11Cl3NO3PS." []	201764	\N	\N	EFO	1	EFO	chemical compound	chlorpyrifos
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34631	"An organochlorine acaricide that has formula C9H11Cl3NO3PS." []	554664	\N	\N	EFO	2	EFO	chemical entity	chlorpyrifos
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34631	"An organochlorine acaricide that has formula C9H11Cl3NO3PS." []	1137368	\N	\N	EFO	3	EFO	material entity	chlorpyrifos
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34631	"An organochlorine acaricide that has formula C9H11Cl3NO3PS." []	2020510	\N	\N	EFO	4	EFO	experimental factor	chlorpyrifos
CHEBI:34648	\N	\N	"" []	CHEBI:34648	"" []	62348	\N	\N	EFO	0	EFO	clofibric acid	clofibric acid
EFO:0004416	CHEBI:34648	\N	"" []	CHEBI:34648	"" []	201765	\N	\N	EFO	1	EFO	acid	clofibric acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34648	"" []	554665	\N	\N	EFO	2	EFO	chemical compound	clofibric acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34648	"" []	1137369	\N	\N	EFO	3	EFO	chemical entity	clofibric acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34648	"" []	2020511	\N	\N	EFO	4	EFO	material entity	clofibric acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34648	"" []	3175469	\N	\N	EFO	5	EFO	experimental factor	clofibric acid
CHEBI:34682	\N	\N	"" []	CHEBI:34682	"" []	62349	\N	\N	EFO	0	EFO	diazinon	diazinon
CHEBI:37577	CHEBI:34682	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34682	"" []	201766	\N	\N	EFO	1	EFO	chemical compound	diazinon
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34682	"" []	554666	\N	\N	EFO	2	EFO	chemical entity	diazinon
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34682	"" []	1137370	\N	\N	EFO	3	EFO	material entity	diazinon
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34682	"" []	2020512	\N	\N	EFO	4	EFO	experimental factor	diazinon
CHEBI:34687	\N	\N	"The dibutyl ester of benzene-1,2-dicarboxylic acid." []	CHEBI:34687	"The dibutyl ester of benzene-1,2-dicarboxylic acid." []	62350	\N	\N	EFO	0	EFO	dibutyl phthalate	dibutyl phthalate
CHEBI:37577	CHEBI:34687	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34687	"The dibutyl ester of benzene-1,2-dicarboxylic acid." []	201767	\N	\N	EFO	1	EFO	chemical compound	dibutyl phthalate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34687	"The dibutyl ester of benzene-1,2-dicarboxylic acid." []	554667	\N	\N	EFO	2	EFO	chemical entity	dibutyl phthalate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34687	"The dibutyl ester of benzene-1,2-dicarboxylic acid." []	1137371	\N	\N	EFO	3	EFO	material entity	dibutyl phthalate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34687	"The dibutyl ester of benzene-1,2-dicarboxylic acid." []	2020513	\N	\N	EFO	4	EFO	experimental factor	dibutyl phthalate
CHEBI:34795	\N	\N	"A 3-isobutyl-1-methylxanthine that has formula C10H14N4O2." []	CHEBI:34795	"A 3-isobutyl-1-methylxanthine that has formula C10H14N4O2." []	62351	\N	\N	EFO	0	EFO	3-isobutyl-1-methyl-7H-xanthine	3-isobutyl-1-methyl-7H-xanthine
CHEBI:37577	CHEBI:34795	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34795	"A 3-isobutyl-1-methylxanthine that has formula C10H14N4O2." []	201768	\N	\N	EFO	1	EFO	chemical compound	3-isobutyl-1-methyl-7H-xanthine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34795	"A 3-isobutyl-1-methylxanthine that has formula C10H14N4O2." []	554668	\N	\N	EFO	2	EFO	chemical entity	3-isobutyl-1-methyl-7H-xanthine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34795	"A 3-isobutyl-1-methylxanthine that has formula C10H14N4O2." []	1137372	\N	\N	EFO	3	EFO	material entity	3-isobutyl-1-methyl-7H-xanthine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34795	"A 3-isobutyl-1-methylxanthine that has formula C10H14N4O2." []	2020514	\N	\N	EFO	4	EFO	experimental factor	3-isobutyl-1-methyl-7H-xanthine
CHEBI:34839	\N	\N	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	CHEBI:34839	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	62352	\N	\N	EFO	0	EFO	methoprene	methoprene
CHEBI:24621	CHEBI:34839	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:34839	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	201769	\N	\N	EFO	1	EFO	hormone	methoprene
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34839	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	554669	\N	\N	EFO	2	EFO	chemical compound	methoprene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34839	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	1137373	\N	\N	EFO	3	EFO	chemical entity	methoprene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34839	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	2020515	\N	\N	EFO	4	EFO	material entity	methoprene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34839	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	3175470	\N	\N	EFO	5	EFO	experimental factor	methoprene
CHEBI:34873	\N	\N	"" []	CHEBI:34873	"" []	62353	\N	\N	EFO	0	EFO	N-nitrosodiethylamine	N-nitrosodiethylamine
CHEBI:37577	CHEBI:34873	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34873	"" []	201770	\N	\N	EFO	1	EFO	chemical compound	N-nitrosodiethylamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34873	"" []	554670	\N	\N	EFO	2	EFO	chemical entity	N-nitrosodiethylamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34873	"" []	1137374	\N	\N	EFO	3	EFO	material entity	N-nitrosodiethylamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34873	"" []	2020516	\N	\N	EFO	4	EFO	experimental factor	N-nitrosodiethylamine
CHEBI:34892	\N	\N	"A thiophene that has formula C14H11N3O3S." []	CHEBI:34892	"A thiophene that has formula C14H11N3O3S." []	62354	\N	\N	EFO	0	EFO	nocodazole	nocodazole
CHEBI:23888	CHEBI:34892	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:34892	"A thiophene that has formula C14H11N3O3S." []	201771	\N	\N	EFO	1	EFO	drug	nocodazole
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34892	"A thiophene that has formula C14H11N3O3S." []	554671	\N	\N	EFO	2	EFO	chemical compound	nocodazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34892	"A thiophene that has formula C14H11N3O3S." []	1137375	\N	\N	EFO	3	EFO	chemical entity	nocodazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34892	"A thiophene that has formula C14H11N3O3S." []	2020517	\N	\N	EFO	4	EFO	material entity	nocodazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34892	"A thiophene that has formula C14H11N3O3S." []	3175471	\N	\N	EFO	5	EFO	experimental factor	nocodazole
CHEBI:34905	\N	\N	"A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity.  Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)" []	CHEBI:34905	"A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity.  Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)" []	62355	\N	\N	EFO	0	EFO	paraquat	paraquat
CHEBI:37577	CHEBI:34905	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34905	"A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity.  Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)" []	201772	\N	\N	EFO	1	EFO	chemical compound	paraquat
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34905	"A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity.  Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)" []	554672	\N	\N	EFO	2	EFO	chemical entity	paraquat
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34905	"A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity.  Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)" []	1137376	\N	\N	EFO	3	EFO	material entity	paraquat
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34905	"A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity.  Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)" []	2020518	\N	\N	EFO	4	EFO	experimental factor	paraquat
CHEBI:34908	\N	\N	"" []	CHEBI:34908	"" []	62356	\N	\N	EFO	0	EFO	pentachloronitrobenzene	pentachloronitrobenzene
CHEBI:37577	CHEBI:34908	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34908	"" []	201773	\N	\N	EFO	1	EFO	chemical compound	pentachloronitrobenzene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34908	"" []	554673	\N	\N	EFO	2	EFO	chemical entity	pentachloronitrobenzene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34908	"" []	1137377	\N	\N	EFO	3	EFO	material entity	pentachloronitrobenzene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34908	"" []	2020519	\N	\N	EFO	4	EFO	experimental factor	pentachloronitrobenzene
CHEBI:34911	\N	\N	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	CHEBI:34911	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	62357	\N	\N	EFO	0	EFO	permethrin	permethrin
CHEBI:37577	CHEBI:34911	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34911	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	201774	\N	\N	EFO	1	EFO	chemical compound	permethrin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34911	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	554674	\N	\N	EFO	2	EFO	chemical entity	permethrin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34911	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	1137378	\N	\N	EFO	3	EFO	material entity	permethrin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34911	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	2020520	\N	\N	EFO	4	EFO	experimental factor	permethrin
CHEBI:34988	\N	\N	"" []	CHEBI:34988	"" []	62358	\N	\N	EFO	0	EFO	sulmazole	sulmazole
CHEBI:23888	CHEBI:34988	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:34988	"" []	201775	\N	\N	EFO	1	EFO	drug	sulmazole
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:34988	"" []	554675	\N	\N	EFO	2	EFO	chemical compound	sulmazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:34988	"" []	1137379	\N	\N	EFO	3	EFO	chemical entity	sulmazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:34988	"" []	2020521	\N	\N	EFO	4	EFO	material entity	sulmazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:34988	"" []	3175472	\N	\N	EFO	5	EFO	experimental factor	sulmazole
CHEBI:3515	\N	\N	"A 3-(carbamoyloxymethyl)cephalosporin compound having a 7-(2Z)-2-(furan-2-yl)-2-(methoxyimino)acetamido side chain." []	CHEBI:3515	"A 3-(carbamoyloxymethyl)cephalosporin compound having a 7-(2Z)-2-(furan-2-yl)-2-(methoxyimino)acetamido side chain." []	62359	\N	\N	EFO	0	EFO	cefuroxime	cefuroxime
CHEBI:37577	CHEBI:3515	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3515	"A 3-(carbamoyloxymethyl)cephalosporin compound having a 7-(2Z)-2-(furan-2-yl)-2-(methoxyimino)acetamido side chain." []	201776	\N	\N	EFO	1	EFO	chemical compound	cefuroxime
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3515	"A 3-(carbamoyloxymethyl)cephalosporin compound having a 7-(2Z)-2-(furan-2-yl)-2-(methoxyimino)acetamido side chain." []	554676	\N	\N	EFO	2	EFO	chemical entity	cefuroxime
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3515	"A 3-(carbamoyloxymethyl)cephalosporin compound having a 7-(2Z)-2-(furan-2-yl)-2-(methoxyimino)acetamido side chain." []	1137380	\N	\N	EFO	3	EFO	material entity	cefuroxime
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3515	"A 3-(carbamoyloxymethyl)cephalosporin compound having a 7-(2Z)-2-(furan-2-yl)-2-(methoxyimino)acetamido side chain." []	2020522	\N	\N	EFO	4	EFO	experimental factor	cefuroxime
CHEBI:35176	\N	\N	"A metal sulfate compound having zinc(2+) as the counterion." []	CHEBI:35176	"A metal sulfate compound having zinc(2+) as the counterion." []	62360	\N	\N	EFO	0	EFO	zinc sulfate	zinc sulfate
EFO:0004415	CHEBI:35176	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:35176	"A metal sulfate compound having zinc(2+) as the counterion." []	201777	\N	\N	EFO	1	EFO	ionic salt	zinc sulfate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35176	"A metal sulfate compound having zinc(2+) as the counterion." []	554677	\N	\N	EFO	2	EFO	chemical compound	zinc sulfate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35176	"A metal sulfate compound having zinc(2+) as the counterion." []	1137381	\N	\N	EFO	3	EFO	chemical entity	zinc sulfate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35176	"A metal sulfate compound having zinc(2+) as the counterion." []	2020523	\N	\N	EFO	4	EFO	material entity	zinc sulfate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35176	"A metal sulfate compound having zinc(2+) as the counterion." []	3175473	\N	\N	EFO	5	EFO	experimental factor	zinc sulfate
CHEBI:35195	\N	\N	"A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces." []	CHEBI:35195	"A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces." []	62361	\N	\N	EFO	0	EFO	surfactant role	surfactant role
CHEBI:51086	CHEBI:35195	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35195	"A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces." []	201778	\N	\N	EFO	1	EFO	chemical role	surfactant role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35195	"A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces." []	554678	\N	\N	EFO	2	EFO	role	surfactant role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35195	"A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces." []	1137382	\N	\N	EFO	3	EFO	material property	surfactant role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35195	"A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces." []	2020524	\N	\N	EFO	4	EFO	experimental factor	surfactant role
CHEBI:35212	\N	\N	"An apratoxin that has formula C45H69N5O8S." []	CHEBI:35212	"An apratoxin that has formula C45H69N5O8S." []	62362	\N	\N	EFO	0	EFO	apratoxin A	apratoxin A
CHEBI:37577	CHEBI:35212	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35212	"An apratoxin that has formula C45H69N5O8S." []	201779	\N	\N	EFO	1	EFO	chemical compound	apratoxin A
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35212	"An apratoxin that has formula C45H69N5O8S." []	554679	\N	\N	EFO	2	EFO	chemical entity	apratoxin A
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35212	"An apratoxin that has formula C45H69N5O8S." []	1137383	\N	\N	EFO	3	EFO	material entity	apratoxin A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35212	"An apratoxin that has formula C45H69N5O8S." []	2020525	\N	\N	EFO	4	EFO	experimental factor	apratoxin A
CHEBI:35219	\N	\N	"" []	CHEBI:35219	"" []	62363	\N	\N	EFO	0	EFO	plant growth retardant	plant growth retardant
CHEBI:26155	CHEBI:35219	\N	"A chemical, natural or artificial, that can affect the rate of growth of a plant." []	CHEBI:35219	"" []	201780	\N	\N	EFO	1	EFO	plant growth regulator	plant growth retardant
CHEBI:24432	CHEBI:26155	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:35219	"" []	554680	\N	\N	EFO	2	EFO	biological role	plant growth retardant
CHEBI:51086	CHEBI:26155	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35219	"" []	554681	\N	\N	EFO	2	EFO	chemical role	plant growth retardant
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35219	"" []	1137384	\N	\N	EFO	3	EFO	role	plant growth retardant
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35219	"" []	1137385	\N	\N	EFO	3	EFO	role	plant growth retardant
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35219	"" []	2020526	\N	\N	EFO	4	EFO	material property	plant growth retardant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35219	"" []	3175474	\N	\N	EFO	5	EFO	experimental factor	plant growth retardant
CHEBI:35221	\N	\N	"Substance, structurally similar to a metabolite, which competes with it or replaces it, and so prevents or reduces its normal utilization." []	CHEBI:35221	"Substance, structurally similar to a metabolite, which competes with it or replaces it, and so prevents or reduces its normal utilization." []	62364	\N	\N	EFO	0	EFO	antimetabolite role	antimetabolite role
CHEBI:51086	CHEBI:35221	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35221	"Substance, structurally similar to a metabolite, which competes with it or replaces it, and so prevents or reduces its normal utilization." []	201781	\N	\N	EFO	1	EFO	chemical role	antimetabolite role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35221	"Substance, structurally similar to a metabolite, which competes with it or replaces it, and so prevents or reduces its normal utilization." []	554682	\N	\N	EFO	2	EFO	role	antimetabolite role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35221	"Substance, structurally similar to a metabolite, which competes with it or replaces it, and so prevents or reduces its normal utilization." []	1137386	\N	\N	EFO	3	EFO	material property	antimetabolite role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35221	"Substance, structurally similar to a metabolite, which competes with it or replaces it, and so prevents or reduces its normal utilization." []	2020527	\N	\N	EFO	4	EFO	experimental factor	antimetabolite role
CHEBI:35222	\N	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:35222	"A substance that diminishes the rate of a chemical reaction." []	62365	\N	\N	EFO	0	EFO	inhibitor role	inhibitor role
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35222	"A substance that diminishes the rate of a chemical reaction." []	201782	\N	\N	EFO	1	EFO	chemical role	inhibitor role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35222	"A substance that diminishes the rate of a chemical reaction." []	554683	\N	\N	EFO	2	EFO	role	inhibitor role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35222	"A substance that diminishes the rate of a chemical reaction." []	1137387	\N	\N	EFO	3	EFO	material property	inhibitor role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35222	"A substance that diminishes the rate of a chemical reaction." []	2020528	\N	\N	EFO	4	EFO	experimental factor	inhibitor role
CHEBI:35227	\N	\N	"A member of the 4-nitrotoluenes that has formula C7H7NO2." []	CHEBI:35227	"A member of the 4-nitrotoluenes that has formula C7H7NO2." []	62366	\N	\N	EFO	0	EFO	4-nitrotoluene	4-nitrotoluene
CHEBI:37577	CHEBI:35227	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35227	"A member of the 4-nitrotoluenes that has formula C7H7NO2." []	201783	\N	\N	EFO	1	EFO	chemical compound	4-nitrotoluene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35227	"A member of the 4-nitrotoluenes that has formula C7H7NO2." []	554684	\N	\N	EFO	2	EFO	chemical entity	4-nitrotoluene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35227	"A member of the 4-nitrotoluenes that has formula C7H7NO2." []	1137388	\N	\N	EFO	3	EFO	material entity	4-nitrotoluene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35227	"A member of the 4-nitrotoluenes that has formula C7H7NO2." []	2020529	\N	\N	EFO	4	EFO	experimental factor	4-nitrotoluene
CHEBI:35260	\N	\N	"A benzofuran that has formula C8H6O." []	CHEBI:35260	"A benzofuran that has formula C8H6O." []	62367	\N	\N	EFO	0	EFO	1-benzofuran	1-benzofuran
CHEBI:37577	CHEBI:35260	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35260	"A benzofuran that has formula C8H6O." []	201784	\N	\N	EFO	1	EFO	chemical compound	1-benzofuran
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35260	"A benzofuran that has formula C8H6O." []	554685	\N	\N	EFO	2	EFO	chemical entity	1-benzofuran
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35260	"A benzofuran that has formula C8H6O." []	1137389	\N	\N	EFO	3	EFO	material entity	1-benzofuran
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35260	"A benzofuran that has formula C8H6O." []	2020530	\N	\N	EFO	4	EFO	experimental factor	1-benzofuran
CHEBI:35341	\N	\N	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	CHEBI:35341	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	62368	\N	\N	EFO	0	EFO	steroid	steroid
CHEBI:37577	CHEBI:35341	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35341	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	201785	\N	\N	EFO	1	EFO	chemical compound	steroid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35341	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	554686	\N	\N	EFO	2	EFO	chemical entity	steroid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35341	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	1137390	\N	\N	EFO	3	EFO	material entity	steroid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35341	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	2020531	\N	\N	EFO	4	EFO	experimental factor	steroid
CHEBI:35366	\N	\N	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	CHEBI:35366	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	62369	\N	\N	EFO	0	EFO	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:18059	CHEBI:35366	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:35366	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	201786	\N	\N	EFO	1	EFO	lipid	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004416	CHEBI:35366	\N	"" []	CHEBI:35366	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	201787	\N	\N	EFO	1	EFO	acid	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35366	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	554687	\N	\N	EFO	2	EFO	chemical compound	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35366	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	554688	\N	\N	EFO	2	EFO	chemical compound	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35366	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	1137391	\N	\N	EFO	3	EFO	chemical entity	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35366	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	2020532	\N	\N	EFO	4	EFO	material entity	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35366	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	3175475	\N	\N	EFO	5	EFO	experimental factor	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:35444	\N	\N	"A substance used in the treatment or control of nematode infestations." []	CHEBI:35444	"A substance used in the treatment or control of nematode infestations." []	62370	\N	\N	EFO	0	EFO	antinematodal drug	antinematodal drug
EFO:0001899	CHEBI:35444	\N	"" []	CHEBI:35444	"A substance used in the treatment or control of nematode infestations." []	201788	\N	\N	EFO	1	EFO	drug role	antinematodal drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35444	"A substance used in the treatment or control of nematode infestations." []	554689	\N	\N	EFO	2	EFO	chemical role	antinematodal drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35444	"A substance used in the treatment or control of nematode infestations." []	1137392	\N	\N	EFO	3	EFO	role	antinematodal drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35444	"A substance used in the treatment or control of nematode infestations." []	2020533	\N	\N	EFO	4	EFO	material property	antinematodal drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35444	"A substance used in the treatment or control of nematode infestations." []	3175476	\N	\N	EFO	5	EFO	experimental factor	antinematodal drug
CHEBI:35446	\N	\N	"" []	CHEBI:35446	"" []	62371	\N	\N	EFO	0	EFO	polychlorinated biphenyls	polychlorinated biphenyls
CHEBI:37577	CHEBI:35446	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35446	"" []	201789	\N	\N	EFO	1	EFO	chemical compound	polychlorinated biphenyls
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35446	"" []	554690	\N	\N	EFO	2	EFO	chemical entity	polychlorinated biphenyls
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35446	"" []	1137393	\N	\N	EFO	3	EFO	material entity	polychlorinated biphenyls
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35446	"" []	2020534	\N	\N	EFO	4	EFO	experimental factor	polychlorinated biphenyls
CHEBI:35455	\N	\N	"" []	CHEBI:35455	"" []	62372	\N	\N	EFO	0	EFO	1-naphthyl isothiocyanate	1-naphthyl isothiocyanate
CHEBI:37577	CHEBI:35455	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35455	"" []	201790	\N	\N	EFO	1	EFO	chemical compound	1-naphthyl isothiocyanate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35455	"" []	554691	\N	\N	EFO	2	EFO	chemical entity	1-naphthyl isothiocyanate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35455	"" []	1137394	\N	\N	EFO	3	EFO	material entity	1-naphthyl isothiocyanate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35455	"" []	2020535	\N	\N	EFO	4	EFO	experimental factor	1-naphthyl isothiocyanate
CHEBI:35456	\N	\N	"A cadmium coordination entity that has formula CdCl2." []	CHEBI:35456	"A cadmium coordination entity that has formula CdCl2." []	62373	\N	\N	EFO	0	EFO	cadmium dichloride	cadmium dichloride
CHEBI:24431	CHEBI:35456	\N	"" []	CHEBI:35456	"A cadmium coordination entity that has formula CdCl2." []	201791	\N	\N	EFO	1	EFO	chemical entity	cadmium dichloride
EFO:0004415	CHEBI:35456	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:35456	"A cadmium coordination entity that has formula CdCl2." []	201792	\N	\N	EFO	1	EFO	ionic salt	cadmium dichloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35456	"A cadmium coordination entity that has formula CdCl2." []	554692	\N	\N	EFO	2	EFO	chemical compound	cadmium dichloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35456	"A cadmium coordination entity that has formula CdCl2." []	1137395	\N	\N	EFO	3	EFO	chemical entity	cadmium dichloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35456	"A cadmium coordination entity that has formula CdCl2." []	2020536	\N	\N	EFO	4	EFO	material entity	cadmium dichloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35456	"A cadmium coordination entity that has formula CdCl2." []	3175477	\N	\N	EFO	5	EFO	experimental factor	cadmium dichloride
CHEBI:35457	\N	\N	"" []	CHEBI:35457	"" []	62374	\N	\N	EFO	0	EFO	angiotensin-converting enzyme inhibitor	angiotensin-converting enzyme inhibitor
CHEBI:23924	CHEBI:35457	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:35457	"" []	201793	\N	\N	EFO	1	EFO	enzyme inhibitor	angiotensin-converting enzyme inhibitor
EFO:0001899	CHEBI:35457	\N	"" []	CHEBI:35457	"" []	201794	\N	\N	EFO	1	EFO	drug role	angiotensin-converting enzyme inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:35457	"" []	554693	\N	\N	EFO	2	EFO	biological role	angiotensin-converting enzyme inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:35457	"" []	554694	\N	\N	EFO	2	EFO	inhibitor role	angiotensin-converting enzyme inhibitor
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35457	"" []	554695	\N	\N	EFO	2	EFO	chemical role	angiotensin-converting enzyme inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35457	"" []	1137396	\N	\N	EFO	3	EFO	role	angiotensin-converting enzyme inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35457	"" []	1137397	\N	\N	EFO	3	EFO	chemical role	angiotensin-converting enzyme inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35457	"" []	2020538	\N	\N	EFO	4	EFO	role	angiotensin-converting enzyme inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35457	"" []	2999164	\N	\N	EFO	5	EFO	material property	angiotensin-converting enzyme inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35457	"" []	4132399	\N	\N	EFO	6	EFO	experimental factor	angiotensin-converting enzyme inhibitor
CHEBI:35469	\N	\N	"" []	CHEBI:35469	"" []	62375	\N	\N	EFO	0	EFO	antidepressant	antidepressant
EFO:0001899	CHEBI:35469	\N	"" []	CHEBI:35469	"" []	201795	\N	\N	EFO	1	EFO	drug role	antidepressant
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35469	"" []	554696	\N	\N	EFO	2	EFO	chemical role	antidepressant
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35469	"" []	1137399	\N	\N	EFO	3	EFO	role	antidepressant
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35469	"" []	2020539	\N	\N	EFO	4	EFO	material property	antidepressant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35469	"" []	3175479	\N	\N	EFO	5	EFO	experimental factor	antidepressant
CHEBI:35472	\N	\N	"A substance that reduces or suppresses inflammation." []	CHEBI:35472	"A substance that reduces or suppresses inflammation." []	62376	\N	\N	EFO	0	EFO	anti-inflammatory drug	anti-inflammatory drug
EFO:0001899	CHEBI:35472	\N	"" []	CHEBI:35472	"A substance that reduces or suppresses inflammation." []	201796	\N	\N	EFO	1	EFO	drug role	anti-inflammatory drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35472	"A substance that reduces or suppresses inflammation." []	554697	\N	\N	EFO	2	EFO	chemical role	anti-inflammatory drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35472	"A substance that reduces or suppresses inflammation." []	1137400	\N	\N	EFO	3	EFO	role	anti-inflammatory drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35472	"A substance that reduces or suppresses inflammation." []	2020540	\N	\N	EFO	4	EFO	material property	anti-inflammatory drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35472	"A substance that reduces or suppresses inflammation." []	3175480	\N	\N	EFO	5	EFO	experimental factor	anti-inflammatory drug
CHEBI:35475	\N	\N	"An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins." []	CHEBI:35475	"An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins." []	62377	\N	\N	EFO	0	EFO	non-steroidal anti-inflammatory drug	non-steroidal anti-inflammatory drug
EFO:0001899	CHEBI:35475	\N	"" []	CHEBI:35475	"An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins." []	201797	\N	\N	EFO	1	EFO	drug role	non-steroidal anti-inflammatory drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35475	"An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins." []	554698	\N	\N	EFO	2	EFO	chemical role	non-steroidal anti-inflammatory drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35475	"An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins." []	1137401	\N	\N	EFO	3	EFO	role	non-steroidal anti-inflammatory drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35475	"An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins." []	2020541	\N	\N	EFO	4	EFO	material property	non-steroidal anti-inflammatory drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35475	"An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins." []	3175481	\N	\N	EFO	5	EFO	experimental factor	non-steroidal anti-inflammatory drug
CHEBI:35476	\N	\N	"Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect." []	CHEBI:35476	"Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect." []	62378	\N	\N	EFO	0	EFO	antipsychotic drug	antipsychotic drug
EFO:0001899	CHEBI:35476	\N	"" []	CHEBI:35476	"Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect." []	201798	\N	\N	EFO	1	EFO	drug role	antipsychotic drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35476	"Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect." []	554699	\N	\N	EFO	2	EFO	chemical role	antipsychotic drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35476	"Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect." []	1137402	\N	\N	EFO	3	EFO	role	antipsychotic drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35476	"Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect." []	2020542	\N	\N	EFO	4	EFO	material property	antipsychotic drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35476	"Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect." []	3175482	\N	\N	EFO	5	EFO	experimental factor	antipsychotic drug
CHEBI:35477	\N	\N	"Antimanic drugs are agents used to treat bipolar disorders or mania associated with other affective disorders." []	CHEBI:35477	"Antimanic drugs are agents used to treat bipolar disorders or mania associated with other affective disorders." []	62379	\N	\N	EFO	0	EFO	antimanic drug	antimanic drug
EFO:0001899	CHEBI:35477	\N	"" []	CHEBI:35477	"Antimanic drugs are agents used to treat bipolar disorders or mania associated with other affective disorders." []	201799	\N	\N	EFO	1	EFO	drug role	antimanic drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35477	"Antimanic drugs are agents used to treat bipolar disorders or mania associated with other affective disorders." []	554700	\N	\N	EFO	2	EFO	chemical role	antimanic drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35477	"Antimanic drugs are agents used to treat bipolar disorders or mania associated with other affective disorders." []	1137403	\N	\N	EFO	3	EFO	role	antimanic drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35477	"Antimanic drugs are agents used to treat bipolar disorders or mania associated with other affective disorders." []	2020543	\N	\N	EFO	4	EFO	material property	antimanic drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35477	"Antimanic drugs are agents used to treat bipolar disorders or mania associated with other affective disorders." []	3175483	\N	\N	EFO	5	EFO	experimental factor	antimanic drug
CHEBI:35481	\N	\N	"A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors." []	CHEBI:35481	"A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors." []	62380	\N	\N	EFO	0	EFO	non-narcotic analgesic	non-narcotic analgesic
EFO:0001899	CHEBI:35481	\N	"" []	CHEBI:35481	"A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors." []	201800	\N	\N	EFO	1	EFO	drug role	non-narcotic analgesic
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35481	"A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors." []	554701	\N	\N	EFO	2	EFO	chemical role	non-narcotic analgesic
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35481	"A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors." []	1137404	\N	\N	EFO	3	EFO	role	non-narcotic analgesic
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35481	"A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors." []	2020544	\N	\N	EFO	4	EFO	material property	non-narcotic analgesic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35481	"A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors." []	3175484	\N	\N	EFO	5	EFO	experimental factor	non-narcotic analgesic
CHEBI:35493	\N	\N	"A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever." []	CHEBI:35493	"A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever." []	62381	\N	\N	EFO	0	EFO	antipyretic	antipyretic
EFO:0001899	CHEBI:35493	\N	"" []	CHEBI:35493	"A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever." []	201801	\N	\N	EFO	1	EFO	drug role	antipyretic
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35493	"A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever." []	554702	\N	\N	EFO	2	EFO	chemical role	antipyretic
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35493	"A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever." []	1137405	\N	\N	EFO	3	EFO	role	antipyretic
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35493	"A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever." []	2020545	\N	\N	EFO	4	EFO	material property	antipyretic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35493	"A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever." []	3175485	\N	\N	EFO	5	EFO	experimental factor	antipyretic
CHEBI:35522	\N	\N	"An agent that selectively binds to and activates beta-adrenergic receptors." []	CHEBI:35522	"An agent that selectively binds to and activates beta-adrenergic receptors." []	62382	\N	\N	EFO	0	EFO	beta-adrenergic agonist	beta-adrenergic agonist
EFO:0001899	CHEBI:35522	\N	"" []	CHEBI:35522	"An agent that selectively binds to and activates beta-adrenergic receptors." []	201802	\N	\N	EFO	1	EFO	drug role	beta-adrenergic agonist
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35522	"An agent that selectively binds to and activates beta-adrenergic receptors." []	554703	\N	\N	EFO	2	EFO	chemical role	beta-adrenergic agonist
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35522	"An agent that selectively binds to and activates beta-adrenergic receptors." []	1137406	\N	\N	EFO	3	EFO	role	beta-adrenergic agonist
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35522	"An agent that selectively binds to and activates beta-adrenergic receptors." []	2020546	\N	\N	EFO	4	EFO	material property	beta-adrenergic agonist
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35522	"An agent that selectively binds to and activates beta-adrenergic receptors." []	3175486	\N	\N	EFO	5	EFO	experimental factor	beta-adrenergic agonist
CHEBI:35526	\N	\N	"A drug which lowers the blood glucose level." []	CHEBI:35526	"A drug which lowers the blood glucose level." []	62383	\N	\N	EFO	0	EFO	hypoglycemic drug	hypoglycemic drug
EFO:0001899	CHEBI:35526	\N	"" []	CHEBI:35526	"A drug which lowers the blood glucose level." []	201803	\N	\N	EFO	1	EFO	drug role	hypoglycemic drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35526	"A drug which lowers the blood glucose level." []	554704	\N	\N	EFO	2	EFO	chemical role	hypoglycemic drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35526	"A drug which lowers the blood glucose level." []	1137407	\N	\N	EFO	3	EFO	role	hypoglycemic drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35526	"A drug which lowers the blood glucose level." []	2020547	\N	\N	EFO	4	EFO	material property	hypoglycemic drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35526	"A drug which lowers the blood glucose level." []	3175487	\N	\N	EFO	5	EFO	experimental factor	hypoglycemic drug
CHEBI:35544	\N	\N	"A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes." []	CHEBI:35544	"A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes." []	62384	\N	\N	EFO	0	EFO	cyclooxygenase inhibitor	cyclooxygenase inhibitor
CHEBI:23924	CHEBI:35544	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:35544	"A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes." []	201804	\N	\N	EFO	1	EFO	enzyme inhibitor	cyclooxygenase inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:35544	"A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes." []	554705	\N	\N	EFO	2	EFO	biological role	cyclooxygenase inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:35544	"A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes." []	554706	\N	\N	EFO	2	EFO	inhibitor role	cyclooxygenase inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35544	"A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes." []	1137408	\N	\N	EFO	3	EFO	role	cyclooxygenase inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35544	"A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes." []	1137409	\N	\N	EFO	3	EFO	chemical role	cyclooxygenase inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35544	"A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes." []	3175489	\N	\N	EFO	5	EFO	material property	cyclooxygenase inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35544	"A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes." []	2020549	\N	\N	EFO	4	EFO	role	cyclooxygenase inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35544	"A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes." []	4132400	\N	\N	EFO	6	EFO	experimental factor	cyclooxygenase inhibitor
CHEBI:35546	\N	\N	"" []	CHEBI:35546	"" []	62385	\N	\N	EFO	0	EFO	perfluorodecanoic acid	perfluorodecanoic acid
CHEBI:37577	CHEBI:35546	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35546	"" []	201805	\N	\N	EFO	1	EFO	chemical compound	perfluorodecanoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35546	"" []	554707	\N	\N	EFO	2	EFO	chemical entity	perfluorodecanoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35546	"" []	1137410	\N	\N	EFO	3	EFO	material entity	perfluorodecanoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35546	"" []	2020550	\N	\N	EFO	4	EFO	experimental factor	perfluorodecanoic acid
CHEBI:35553	\N	\N	"" []	CHEBI:35553	"" []	62386	\N	\N	EFO	0	EFO	perhexiline	perhexiline
CHEBI:37577	CHEBI:35553	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35553	"" []	201806	\N	\N	EFO	1	EFO	chemical compound	perhexiline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35553	"" []	554708	\N	\N	EFO	2	EFO	chemical entity	perhexiline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35553	"" []	1137411	\N	\N	EFO	3	EFO	material entity	perhexiline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35553	"" []	2020551	\N	\N	EFO	4	EFO	experimental factor	perhexiline
CHEBI:35554	\N	\N	"A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume." []	CHEBI:35554	"A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume." []	62387	\N	\N	EFO	0	EFO	cardiovascular drug	cardiovascular drug
EFO:0001899	CHEBI:35554	\N	"" []	CHEBI:35554	"A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume." []	201807	\N	\N	EFO	1	EFO	drug role	cardiovascular drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35554	"A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume." []	554709	\N	\N	EFO	2	EFO	chemical role	cardiovascular drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35554	"A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume." []	1137412	\N	\N	EFO	3	EFO	role	cardiovascular drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35554	"A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume." []	2020552	\N	\N	EFO	4	EFO	material property	cardiovascular drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35554	"A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume." []	3175490	\N	\N	EFO	5	EFO	experimental factor	cardiovascular drug
CHEBI:35559	\N	\N	"" []	CHEBI:35559	"" []	62388	\N	\N	EFO	0	EFO	furan	furan
CHEBI:37577	CHEBI:35559	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35559	"" []	201808	\N	\N	EFO	1	EFO	chemical compound	furan
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35559	"" []	554710	\N	\N	EFO	2	EFO	chemical entity	furan
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35559	"" []	1137413	\N	\N	EFO	3	EFO	material entity	furan
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35559	"" []	2020553	\N	\N	EFO	4	EFO	experimental factor	furan
CHEBI:35569	\N	\N	"" []	CHEBI:35569	"" []	62389	\N	\N	EFO	0	EFO	alpha-adrenergic agonist	alpha-adrenergic agonist
CHEBI:23888	CHEBI:35569	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:35569	"" []	201809	\N	\N	EFO	1	EFO	drug	alpha-adrenergic agonist
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35569	"" []	554711	\N	\N	EFO	2	EFO	chemical compound	alpha-adrenergic agonist
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35569	"" []	1137414	\N	\N	EFO	3	EFO	chemical entity	alpha-adrenergic agonist
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35569	"" []	2020554	\N	\N	EFO	4	EFO	material entity	alpha-adrenergic agonist
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35569	"" []	3175491	\N	\N	EFO	5	EFO	experimental factor	alpha-adrenergic agonist
CHEBI:35591	\N	\N	"A nitrile that has formula C22H31NO2." []	CHEBI:35591	"A nitrile that has formula C22H31NO2." []	62390	\N	\N	EFO	0	EFO	pregnenolone 16alpha-carbonitrile	pregnenolone 16alpha-carbonitrile
CHEBI:35341	CHEBI:35591	\N	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	CHEBI:35591	"A nitrile that has formula C22H31NO2." []	201810	\N	\N	EFO	1	EFO	steroid	pregnenolone 16alpha-carbonitrile
CHEBI:37577	CHEBI:35341	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35591	"A nitrile that has formula C22H31NO2." []	554712	\N	\N	EFO	2	EFO	chemical compound	pregnenolone 16alpha-carbonitrile
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35591	"A nitrile that has formula C22H31NO2." []	1137415	\N	\N	EFO	3	EFO	chemical entity	pregnenolone 16alpha-carbonitrile
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35591	"A nitrile that has formula C22H31NO2." []	2020555	\N	\N	EFO	4	EFO	material entity	pregnenolone 16alpha-carbonitrile
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35591	"A nitrile that has formula C22H31NO2." []	3175492	\N	\N	EFO	5	EFO	experimental factor	pregnenolone 16alpha-carbonitrile
CHEBI:35595	\N	\N	"" []	CHEBI:35595	"" []	62391	\N	\N	EFO	0	EFO	isoxazole	isoxazole
CHEBI:24532	CHEBI:35595	\N	"" []	CHEBI:35595	"" []	201811	\N	\N	EFO	1	EFO	organic heterocyclic compound	isoxazole
CHEBI:37577	CHEBI:24532	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35595	"" []	554713	\N	\N	EFO	2	EFO	chemical compound	isoxazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35595	"" []	1137416	\N	\N	EFO	3	EFO	chemical entity	isoxazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35595	"" []	2020556	\N	\N	EFO	4	EFO	material entity	isoxazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35595	"" []	3175493	\N	\N	EFO	5	EFO	experimental factor	isoxazole
CHEBI:35610	\N	\N	"A substance that inhibits or prevents the proliferation of neoplasms." []	CHEBI:35610	"A substance that inhibits or prevents the proliferation of neoplasms." []	62392	\N	\N	EFO	0	EFO	antineoplastic agent	antineoplastic agent
EFO:0001899	CHEBI:35610	\N	"" []	CHEBI:35610	"A substance that inhibits or prevents the proliferation of neoplasms." []	201812	\N	\N	EFO	1	EFO	drug role	antineoplastic agent
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35610	"A substance that inhibits or prevents the proliferation of neoplasms." []	554714	\N	\N	EFO	2	EFO	chemical role	antineoplastic agent
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35610	"A substance that inhibits or prevents the proliferation of neoplasms." []	1137417	\N	\N	EFO	3	EFO	role	antineoplastic agent
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35610	"A substance that inhibits or prevents the proliferation of neoplasms." []	2020557	\N	\N	EFO	4	EFO	material property	antineoplastic agent
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35610	"A substance that inhibits or prevents the proliferation of neoplasms." []	3175494	\N	\N	EFO	5	EFO	experimental factor	antineoplastic agent
CHEBI:35620	\N	\N	"A drug used to cause dilation of the blood vessels." []	CHEBI:35620	"A drug used to cause dilation of the blood vessels." []	62393	\N	\N	EFO	0	EFO	vasodilator agent	vasodilator agent
CHEBI:35554	CHEBI:35620	\N	"A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume." []	CHEBI:35620	"A drug used to cause dilation of the blood vessels." []	201813	\N	\N	EFO	1	EFO	cardiovascular drug	vasodilator agent
EFO:0001899	CHEBI:35554	\N	"" []	CHEBI:35620	"A drug used to cause dilation of the blood vessels." []	554715	\N	\N	EFO	2	EFO	drug role	vasodilator agent
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35620	"A drug used to cause dilation of the blood vessels." []	1137418	\N	\N	EFO	3	EFO	chemical role	vasodilator agent
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35620	"A drug used to cause dilation of the blood vessels." []	2020558	\N	\N	EFO	4	EFO	role	vasodilator agent
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35620	"A drug used to cause dilation of the blood vessels." []	3175495	\N	\N	EFO	5	EFO	material property	vasodilator agent
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35620	"A drug used to cause dilation of the blood vessels." []	4386533	\N	\N	EFO	6	EFO	experimental factor	vasodilator agent
CHEBI:35623	\N	\N	"A drug used to prevent seizures or reduce their severity." []	CHEBI:35623	"A drug used to prevent seizures or reduce their severity." []	62394	\N	\N	EFO	0	EFO	anticonvulsant	anticonvulsant
CHEBI:23888	CHEBI:35623	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:35623	"A drug used to prevent seizures or reduce their severity." []	201814	\N	\N	EFO	1	EFO	drug	anticonvulsant
CHEBI:51086	CHEBI:35623	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35623	"A drug used to prevent seizures or reduce their severity." []	201815	\N	\N	EFO	1	EFO	chemical role	anticonvulsant
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35623	"A drug used to prevent seizures or reduce their severity." []	554716	\N	\N	EFO	2	EFO	chemical compound	anticonvulsant
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35623	"A drug used to prevent seizures or reduce their severity." []	554717	\N	\N	EFO	2	EFO	role	anticonvulsant
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35623	"A drug used to prevent seizures or reduce their severity." []	1137419	\N	\N	EFO	3	EFO	chemical entity	anticonvulsant
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35623	"A drug used to prevent seizures or reduce their severity." []	1137420	\N	\N	EFO	3	EFO	material property	anticonvulsant
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35623	"A drug used to prevent seizures or reduce their severity." []	2020559	\N	\N	EFO	4	EFO	material entity	anticonvulsant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35623	"A drug used to prevent seizures or reduce their severity." []	2020560	\N	\N	EFO	4	EFO	experimental factor	anticonvulsant
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35623	"A drug used to prevent seizures or reduce their severity." []	3175496	\N	\N	EFO	5	EFO	experimental factor	anticonvulsant
CHEBI:35640	\N	\N	"Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin." []	CHEBI:35640	"Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin." []	62395	\N	\N	EFO	0	EFO	adrenergic uptake inhibitor	adrenergic uptake inhibitor
EFO:0001899	CHEBI:35640	\N	"" []	CHEBI:35640	"Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin." []	201816	\N	\N	EFO	1	EFO	drug role	adrenergic uptake inhibitor
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35640	"Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin." []	554718	\N	\N	EFO	2	EFO	chemical role	adrenergic uptake inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35640	"Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin." []	1137421	\N	\N	EFO	3	EFO	role	adrenergic uptake inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35640	"Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin." []	2020561	\N	\N	EFO	4	EFO	material property	adrenergic uptake inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35640	"Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin." []	3175497	\N	\N	EFO	5	EFO	experimental factor	adrenergic uptake inhibitor
CHEBI:35666	\N	\N	"" []	CHEBI:35666	"" []	62396	\N	\N	EFO	0	EFO	thiopurines	thiopurines
CHEBI:37577	CHEBI:35666	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35666	"" []	201817	\N	\N	EFO	1	EFO	chemical compound	thiopurines
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35666	"" []	554719	\N	\N	EFO	2	EFO	chemical entity	thiopurines
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35666	"" []	1137422	\N	\N	EFO	3	EFO	material entity	thiopurines
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35666	"" []	2020562	\N	\N	EFO	4	EFO	experimental factor	thiopurines
CHEBI:35679	\N	\N	"A substance used to treat hyperlipidemia (an excess of lipids in the blood)." []	CHEBI:35679	"A substance used to treat hyperlipidemia (an excess of lipids in the blood)." []	62397	\N	\N	EFO	0	EFO	antilipemic drug	antilipemic drug
EFO:0001899	CHEBI:35679	\N	"" []	CHEBI:35679	"A substance used to treat hyperlipidemia (an excess of lipids in the blood)." []	201818	\N	\N	EFO	1	EFO	drug role	antilipemic drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35679	"A substance used to treat hyperlipidemia (an excess of lipids in the blood)." []	554720	\N	\N	EFO	2	EFO	chemical role	antilipemic drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35679	"A substance used to treat hyperlipidemia (an excess of lipids in the blood)." []	1137423	\N	\N	EFO	3	EFO	role	antilipemic drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35679	"A substance used to treat hyperlipidemia (an excess of lipids in the blood)." []	2020563	\N	\N	EFO	4	EFO	material property	antilipemic drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35679	"A substance used to treat hyperlipidemia (an excess of lipids in the blood)." []	3175498	\N	\N	EFO	5	EFO	experimental factor	antilipemic drug
CHEBI:35696	\N	\N	"" []	CHEBI:35696	"" []	62398	\N	\N	EFO	0	EFO	cobalt dichloride	cobalt dichloride
CHEBI:24431	CHEBI:35696	\N	"" []	CHEBI:35696	"" []	201819	\N	\N	EFO	1	EFO	chemical entity	cobalt dichloride
EFO:0004415	CHEBI:35696	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:35696	"" []	201820	\N	\N	EFO	1	EFO	ionic salt	cobalt dichloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35696	"" []	554721	\N	\N	EFO	2	EFO	chemical compound	cobalt dichloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35696	"" []	1137424	\N	\N	EFO	3	EFO	chemical entity	cobalt dichloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35696	"" []	2020564	\N	\N	EFO	4	EFO	material entity	cobalt dichloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35696	"" []	3175499	\N	\N	EFO	5	EFO	experimental factor	cobalt dichloride
CHEBI:35703	\N	\N	"foreign\\"; bios \\"life" []	CHEBI:35703	"foreign\\"; bios \\"life" []	62399	\N	\N	EFO	0	EFO	xenobiotic	xenobiotic
CHEBI:24432	CHEBI:35703	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:35703	"foreign\\"; bios \\"life" []	201821	\N	\N	EFO	1	EFO	biological role	xenobiotic
CHEBI:51086	CHEBI:35703	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35703	"foreign\\"; bios \\"life" []	201822	\N	\N	EFO	1	EFO	chemical role	xenobiotic
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35703	"foreign\\"; bios \\"life" []	554722	\N	\N	EFO	2	EFO	role	xenobiotic
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35703	"foreign\\"; bios \\"life" []	554723	\N	\N	EFO	2	EFO	role	xenobiotic
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35703	"foreign\\"; bios \\"life" []	1137425	\N	\N	EFO	3	EFO	material property	xenobiotic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35703	"foreign\\"; bios \\"life" []	2020565	\N	\N	EFO	4	EFO	experimental factor	xenobiotic
CHEBI:35705	\N	\N	"An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response." []	CHEBI:35705	"An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response." []	62400	\N	\N	EFO	0	EFO	immunosuppressive agent	immunosuppressive agent
CHEBI:24432	CHEBI:35705	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:35705	"An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response." []	201823	\N	\N	EFO	1	EFO	biological role	immunosuppressive agent
CHEBI:51086	CHEBI:35705	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35705	"An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response." []	201824	\N	\N	EFO	1	EFO	chemical role	immunosuppressive agent
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35705	"An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response." []	554724	\N	\N	EFO	2	EFO	role	immunosuppressive agent
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35705	"An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response." []	554725	\N	\N	EFO	2	EFO	role	immunosuppressive agent
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35705	"An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response." []	1137426	\N	\N	EFO	3	EFO	material property	immunosuppressive agent
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35705	"An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response." []	2020566	\N	\N	EFO	4	EFO	experimental factor	immunosuppressive agent
CHEBI:35717	\N	\N	"A drug used to induce drowsiness or sleep or to reduce psychological excitement or anxiety." []	CHEBI:35717	"A drug used to induce drowsiness or sleep or to reduce psychological excitement or anxiety." []	62401	\N	\N	EFO	0	EFO	sedative drug	sedative drug
EFO:0001899	CHEBI:35717	\N	"" []	CHEBI:35717	"A drug used to induce drowsiness or sleep or to reduce psychological excitement or anxiety." []	201825	\N	\N	EFO	1	EFO	drug role	sedative drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35717	"A drug used to induce drowsiness or sleep or to reduce psychological excitement or anxiety." []	554726	\N	\N	EFO	2	EFO	chemical role	sedative drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35717	"A drug used to induce drowsiness or sleep or to reduce psychological excitement or anxiety." []	1137427	\N	\N	EFO	3	EFO	role	sedative drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35717	"A drug used to induce drowsiness or sleep or to reduce psychological excitement or anxiety." []	2020567	\N	\N	EFO	4	EFO	material property	sedative drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35717	"A drug used to induce drowsiness or sleep or to reduce psychological excitement or anxiety." []	3175500	\N	\N	EFO	5	EFO	experimental factor	sedative drug
CHEBI:35718	\N	\N	"A substance that destroys fungi by suppressing their ability to grow or reproduce. Antifungal drugs differ from industrial fungicides in that they defend against fungi present in human or animal tissues." []	CHEBI:35718	"A substance that destroys fungi by suppressing their ability to grow or reproduce. Antifungal drugs differ from industrial fungicides in that they defend against fungi present in human or animal tissues." []	62402	\N	\N	EFO	0	EFO	antifungal drug	antifungal drug
EFO:0001899	CHEBI:35718	\N	"" []	CHEBI:35718	"A substance that destroys fungi by suppressing their ability to grow or reproduce. Antifungal drugs differ from industrial fungicides in that they defend against fungi present in human or animal tissues." []	201826	\N	\N	EFO	1	EFO	drug role	antifungal drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35718	"A substance that destroys fungi by suppressing their ability to grow or reproduce. Antifungal drugs differ from industrial fungicides in that they defend against fungi present in human or animal tissues." []	554727	\N	\N	EFO	2	EFO	chemical role	antifungal drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35718	"A substance that destroys fungi by suppressing their ability to grow or reproduce. Antifungal drugs differ from industrial fungicides in that they defend against fungi present in human or animal tissues." []	1137428	\N	\N	EFO	3	EFO	role	antifungal drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35718	"A substance that destroys fungi by suppressing their ability to grow or reproduce. Antifungal drugs differ from industrial fungicides in that they defend against fungi present in human or animal tissues." []	2020568	\N	\N	EFO	4	EFO	material property	antifungal drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35718	"A substance that destroys fungi by suppressing their ability to grow or reproduce. Antifungal drugs differ from industrial fungicides in that they defend against fungi present in human or animal tissues." []	3175501	\N	\N	EFO	5	EFO	experimental factor	antifungal drug
CHEBI:35807	\N	\N	"" []	CHEBI:35807	"" []	62403	\N	\N	EFO	0	EFO	N-nitrosodimethylamine	N-nitrosodimethylamine
EFO:0004417	CHEBI:35807	\N	"" []	CHEBI:35807	"" []	201827	\N	\N	EFO	1	EFO	amide	N-nitrosodimethylamine
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35807	"" []	554728	\N	\N	EFO	2	EFO	chemical compound	N-nitrosodimethylamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35807	"" []	1137429	\N	\N	EFO	3	EFO	chemical entity	N-nitrosodimethylamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35807	"" []	2020569	\N	\N	EFO	4	EFO	material entity	N-nitrosodimethylamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35807	"" []	3175502	\N	\N	EFO	5	EFO	experimental factor	N-nitrosodimethylamine
CHEBI:35821	\N	\N	"A substance used to lower plasma cholesterol levels." []	CHEBI:35821	"A substance used to lower plasma cholesterol levels." []	62404	\N	\N	EFO	0	EFO	anticholesteremic drug	anticholesteremic drug
EFO:0001899	CHEBI:35821	\N	"" []	CHEBI:35821	"A substance used to lower plasma cholesterol levels." []	201828	\N	\N	EFO	1	EFO	drug role	anticholesteremic drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:35821	"A substance used to lower plasma cholesterol levels." []	554729	\N	\N	EFO	2	EFO	chemical role	anticholesteremic drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:35821	"A substance used to lower plasma cholesterol levels." []	1137430	\N	\N	EFO	3	EFO	role	anticholesteremic drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:35821	"A substance used to lower plasma cholesterol levels." []	2020570	\N	\N	EFO	4	EFO	material property	anticholesteremic drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35821	"A substance used to lower plasma cholesterol levels." []	3175503	\N	\N	EFO	5	EFO	experimental factor	anticholesteremic drug
CHEBI:35842	\N	\N	"A drug used to treat rheumatoid arthritis." []	CHEBI:35842	"A drug used to treat rheumatoid arthritis." []	62405	\N	\N	EFO	0	EFO	antirheumatic drug	antirheumatic drug
CHEBI:23888	CHEBI:35842	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:35842	"A drug used to treat rheumatoid arthritis." []	201829	\N	\N	EFO	1	EFO	drug	antirheumatic drug
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:35842	"A drug used to treat rheumatoid arthritis." []	554730	\N	\N	EFO	2	EFO	chemical compound	antirheumatic drug
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:35842	"A drug used to treat rheumatoid arthritis." []	1137431	\N	\N	EFO	3	EFO	chemical entity	antirheumatic drug
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:35842	"A drug used to treat rheumatoid arthritis." []	2020571	\N	\N	EFO	4	EFO	material entity	antirheumatic drug
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:35842	"A drug used to treat rheumatoid arthritis." []	3175504	\N	\N	EFO	5	EFO	experimental factor	antirheumatic drug
CHEBI:36005	\N	\N	"Any C22 polyunsaturated fatty acid containing six double bonds." []	CHEBI:36005	"Any C22 polyunsaturated fatty acid containing six double bonds." []	62406	\N	\N	EFO	0	EFO	docosahexaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	docosahexaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:35366	CHEBI:36005	\N	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	CHEBI:36005	"Any C22 polyunsaturated fatty acid containing six double bonds." []	201830	\N	\N	EFO	1	EFO	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	docosahexaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:18059	CHEBI:35366	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:36005	"Any C22 polyunsaturated fatty acid containing six double bonds." []	554731	\N	\N	EFO	2	EFO	lipid	docosahexaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004416	CHEBI:35366	\N	"" []	CHEBI:36005	"Any C22 polyunsaturated fatty acid containing six double bonds." []	554732	\N	\N	EFO	2	EFO	acid	docosahexaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:36005	"Any C22 polyunsaturated fatty acid containing six double bonds." []	1137432	\N	\N	EFO	3	EFO	chemical compound	docosahexaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:36005	"Any C22 polyunsaturated fatty acid containing six double bonds." []	1137433	\N	\N	EFO	3	EFO	chemical compound	docosahexaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:36005	"Any C22 polyunsaturated fatty acid containing six double bonds." []	2020572	\N	\N	EFO	4	EFO	chemical entity	docosahexaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:36005	"Any C22 polyunsaturated fatty acid containing six double bonds." []	3175505	\N	\N	EFO	5	EFO	material entity	docosahexaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:36005	"Any C22 polyunsaturated fatty acid containing six double bonds." []	4386534	\N	\N	EFO	6	EFO	experimental factor	docosahexaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:36006	\N	\N	"Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds." []	CHEBI:36006	"Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds." []	62407	\N	\N	EFO	0	EFO	icosapentaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	icosapentaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:35366	CHEBI:36006	\N	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	CHEBI:36006	"Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds." []	201831	\N	\N	EFO	1	EFO	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	icosapentaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:18059	CHEBI:35366	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:36006	"Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds." []	554733	\N	\N	EFO	2	EFO	lipid	icosapentaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004416	CHEBI:35366	\N	"" []	CHEBI:36006	"Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds." []	554734	\N	\N	EFO	2	EFO	acid	icosapentaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:36006	"Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds." []	1137434	\N	\N	EFO	3	EFO	chemical compound	icosapentaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:36006	"Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds." []	1137435	\N	\N	EFO	3	EFO	chemical compound	icosapentaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:36006	"Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds." []	2020573	\N	\N	EFO	4	EFO	chemical entity	icosapentaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:36006	"Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds." []	3175506	\N	\N	EFO	5	EFO	material entity	icosapentaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:36006	"Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds." []	4386535	\N	\N	EFO	6	EFO	experimental factor	icosapentaenoic acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:36047	\N	\N	"" []	CHEBI:36047	"" []	62408	\N	\N	EFO	0	EFO	antibacterial drug	antibacterial drug
EFO:0001899	CHEBI:36047	\N	"" []	CHEBI:36047	"" []	201832	\N	\N	EFO	1	EFO	drug role	antibacterial drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:36047	"" []	554735	\N	\N	EFO	2	EFO	chemical role	antibacterial drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:36047	"" []	1137436	\N	\N	EFO	3	EFO	role	antibacterial drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:36047	"" []	2020574	\N	\N	EFO	4	EFO	material property	antibacterial drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:36047	"" []	3175507	\N	\N	EFO	5	EFO	experimental factor	antibacterial drug
CHEBI:36080	\N	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	CHEBI:36080	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	62409	\N	\N	EFO	0	EFO	protein	protein
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:36080	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	201833	\N	\N	EFO	1	EFO	chemical compound	protein
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:36080	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	554736	\N	\N	EFO	2	EFO	chemical entity	protein
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:36080	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	1137437	\N	\N	EFO	3	EFO	material entity	protein
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:36080	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	2020575	\N	\N	EFO	4	EFO	experimental factor	protein
CHEBI:3614	\N	\N	"A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge." []	CHEBI:3614	"A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge." []	62410	\N	\N	EFO	0	EFO	chlorhexidine	chlorhexidine
CHEBI:23888	CHEBI:3614	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:3614	"A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge." []	201834	\N	\N	EFO	1	EFO	drug	chlorhexidine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3614	"A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge." []	554737	\N	\N	EFO	2	EFO	chemical compound	chlorhexidine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3614	"A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge." []	1137438	\N	\N	EFO	3	EFO	chemical entity	chlorhexidine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3614	"A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge." []	2020576	\N	\N	EFO	4	EFO	material entity	chlorhexidine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3614	"A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge." []	3175508	\N	\N	EFO	5	EFO	experimental factor	chlorhexidine
CHEBI:3638	\N	\N	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	CHEBI:3638	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	62411	\N	\N	EFO	0	EFO	chloroquine	chloroquine
CHEBI:23888	CHEBI:3638	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:3638	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	201835	\N	\N	EFO	1	EFO	drug	chloroquine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3638	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	554738	\N	\N	EFO	2	EFO	chemical compound	chloroquine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3638	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	1137439	\N	\N	EFO	3	EFO	chemical entity	chloroquine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3638	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	2020577	\N	\N	EFO	4	EFO	material entity	chloroquine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3638	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	3175509	\N	\N	EFO	5	EFO	experimental factor	chloroquine
CHEBI:36383	\N	\N	"A strontium salt that has formula Cl2Sr." []	CHEBI:36383	"A strontium salt that has formula Cl2Sr." []	62412	\N	\N	EFO	0	EFO	strontium chloride	strontium chloride
EFO:0004415	CHEBI:36383	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:36383	"A strontium salt that has formula Cl2Sr." []	201836	\N	\N	EFO	1	EFO	ionic salt	strontium chloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:36383	"A strontium salt that has formula Cl2Sr." []	554739	\N	\N	EFO	2	EFO	chemical compound	strontium chloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:36383	"A strontium salt that has formula Cl2Sr." []	1137440	\N	\N	EFO	3	EFO	chemical entity	strontium chloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:36383	"A strontium salt that has formula Cl2Sr." []	2020578	\N	\N	EFO	4	EFO	material entity	strontium chloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:36383	"A strontium salt that has formula Cl2Sr." []	3175510	\N	\N	EFO	5	EFO	experimental factor	strontium chloride
CHEBI:3647	\N	\N	"" []	CHEBI:3647	"" []	62413	\N	\N	EFO	0	EFO	chlorpromazine	chlorpromazine
CHEBI:23888	CHEBI:3647	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:3647	"" []	201837	\N	\N	EFO	1	EFO	drug	chlorpromazine
CHEBI:24431	CHEBI:3647	\N	"" []	CHEBI:3647	"" []	201838	\N	\N	EFO	1	EFO	chemical entity	chlorpromazine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3647	"" []	554740	\N	\N	EFO	2	EFO	chemical compound	chlorpromazine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3647	"" []	1137441	\N	\N	EFO	3	EFO	chemical entity	chlorpromazine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3647	"" []	2020579	\N	\N	EFO	4	EFO	material entity	chlorpromazine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3647	"" []	3175511	\N	\N	EFO	5	EFO	experimental factor	chlorpromazine
CHEBI:3650	\N	\N	"" []	CHEBI:3650	"" []	62414	\N	\N	EFO	0	EFO	chlorpropamide	chlorpropamide
CHEBI:23888	CHEBI:3650	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:3650	"" []	201839	\N	\N	EFO	1	EFO	drug	chlorpropamide
EFO:0004417	CHEBI:3650	\N	"" []	CHEBI:3650	"" []	201840	\N	\N	EFO	1	EFO	amide	chlorpropamide
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3650	"" []	554741	\N	\N	EFO	2	EFO	chemical compound	chlorpropamide
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3650	"" []	554742	\N	\N	EFO	2	EFO	chemical compound	chlorpropamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3650	"" []	1137442	\N	\N	EFO	3	EFO	chemical entity	chlorpropamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3650	"" []	2020580	\N	\N	EFO	4	EFO	material entity	chlorpropamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3650	"" []	3175512	\N	\N	EFO	5	EFO	experimental factor	chlorpropamide
CHEBI:36779	\N	\N	"A sapphyrin that has formula C24H17N5." []	CHEBI:36779	"A sapphyrin that has formula C24H17N5." []	62415	\N	\N	EFO	0	EFO	sapphyrin	sapphyrin
CHEBI:37577	CHEBI:36779	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:36779	"A sapphyrin that has formula C24H17N5." []	201841	\N	\N	EFO	1	EFO	chemical compound	sapphyrin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:36779	"A sapphyrin that has formula C24H17N5." []	554743	\N	\N	EFO	2	EFO	chemical entity	sapphyrin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:36779	"A sapphyrin that has formula C24H17N5." []	1137443	\N	\N	EFO	3	EFO	material entity	sapphyrin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:36779	"A sapphyrin that has formula C24H17N5." []	2020581	\N	\N	EFO	4	EFO	experimental factor	sapphyrin
CHEBI:36799	\N	\N	"" []	CHEBI:36799	"" []	62416	\N	\N	EFO	0	EFO	campestanol	campestanol
CHEBI:37577	CHEBI:36799	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:36799	"" []	201842	\N	\N	EFO	1	EFO	chemical compound	campestanol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:36799	"" []	554744	\N	\N	EFO	2	EFO	chemical entity	campestanol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:36799	"" []	1137444	\N	\N	EFO	3	EFO	material entity	campestanol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:36799	"" []	2020582	\N	\N	EFO	4	EFO	experimental factor	campestanol
CHEBI:3699	\N	\N	"" []	CHEBI:3699	"" []	62417	\N	\N	EFO	0	EFO	cimetidine	cimetidine
CHEBI:37577	CHEBI:3699	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3699	"" []	201843	\N	\N	EFO	1	EFO	chemical compound	cimetidine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3699	"" []	554745	\N	\N	EFO	2	EFO	chemical entity	cimetidine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3699	"" []	1137445	\N	\N	EFO	3	EFO	material entity	cimetidine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3699	"" []	2020583	\N	\N	EFO	4	EFO	experimental factor	cimetidine
CHEBI:3723	\N	\N	"" []	CHEBI:3723	"" []	62418	\N	\N	EFO	0	EFO	citalopram	citalopram
CHEBI:23888	CHEBI:3723	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:3723	"" []	201844	\N	\N	EFO	1	EFO	drug	citalopram
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3723	"" []	554746	\N	\N	EFO	2	EFO	chemical compound	citalopram
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3723	"" []	1137446	\N	\N	EFO	3	EFO	chemical entity	citalopram
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3723	"" []	2020584	\N	\N	EFO	4	EFO	material entity	citalopram
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3723	"" []	3175513	\N	\N	EFO	5	EFO	experimental factor	citalopram
CHEBI:37415	\N	\N	"A heterodetic cyclic peptide that has formula C39H54N10O14S." []	CHEBI:37415	"A heterodetic cyclic peptide that has formula C39H54N10O14S." []	62419	\N	\N	EFO	0	EFO	alpha-amanitin	alpha-amanitin
CHEBI:37577	CHEBI:37415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:37415	"A heterodetic cyclic peptide that has formula C39H54N10O14S." []	201845	\N	\N	EFO	1	EFO	chemical compound	alpha-amanitin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:37415	"A heterodetic cyclic peptide that has formula C39H54N10O14S." []	554747	\N	\N	EFO	2	EFO	chemical entity	alpha-amanitin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:37415	"A heterodetic cyclic peptide that has formula C39H54N10O14S." []	1137447	\N	\N	EFO	3	EFO	material entity	alpha-amanitin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37415	"A heterodetic cyclic peptide that has formula C39H54N10O14S." []	2020585	\N	\N	EFO	4	EFO	experimental factor	alpha-amanitin
CHEBI:3745	\N	\N	"A S-glycosyl compound that has formula C18H33ClN2O5S." []	CHEBI:3745	"A S-glycosyl compound that has formula C18H33ClN2O5S." []	62420	\N	\N	EFO	0	EFO	clindamycin	clindamycin
CHEBI:37577	CHEBI:3745	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3745	"A S-glycosyl compound that has formula C18H33ClN2O5S." []	201846	\N	\N	EFO	1	EFO	chemical compound	clindamycin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3745	"A S-glycosyl compound that has formula C18H33ClN2O5S." []	554748	\N	\N	EFO	2	EFO	chemical entity	clindamycin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3745	"A S-glycosyl compound that has formula C18H33ClN2O5S." []	1137448	\N	\N	EFO	3	EFO	material entity	clindamycin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3745	"A S-glycosyl compound that has formula C18H33ClN2O5S." []	2020586	\N	\N	EFO	4	EFO	experimental factor	clindamycin
CHEBI:3750	\N	\N	"" []	CHEBI:3750	"" []	62421	\N	\N	EFO	0	EFO	clofibrate	clofibrate
CHEBI:23888	CHEBI:3750	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:3750	"" []	201847	\N	\N	EFO	1	EFO	drug	clofibrate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3750	"" []	554749	\N	\N	EFO	2	EFO	chemical compound	clofibrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3750	"" []	1137449	\N	\N	EFO	3	EFO	chemical entity	clofibrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3750	"" []	2020587	\N	\N	EFO	4	EFO	material entity	clofibrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3750	"" []	3175514	\N	\N	EFO	5	EFO	experimental factor	clofibrate
CHEBI:37537	\N	\N	"Commonly employed in biomedical research to activate the signal transduction enzyme protein kinase." []	CHEBI:37537	"Commonly employed in biomedical research to activate the signal transduction enzyme protein kinase." []	62422	\N	\N	EFO	0	EFO	phorbol 13-acetate 12-myristate	phorbol 13-acetate 12-myristate
CHEBI:37577	CHEBI:37537	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:37537	"Commonly employed in biomedical research to activate the signal transduction enzyme protein kinase." []	201848	\N	\N	EFO	1	EFO	chemical compound	phorbol 13-acetate 12-myristate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:37537	"Commonly employed in biomedical research to activate the signal transduction enzyme protein kinase." []	554750	\N	\N	EFO	2	EFO	chemical entity	phorbol 13-acetate 12-myristate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:37537	"Commonly employed in biomedical research to activate the signal transduction enzyme protein kinase." []	1137450	\N	\N	EFO	3	EFO	material entity	phorbol 13-acetate 12-myristate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37537	"Commonly employed in biomedical research to activate the signal transduction enzyme protein kinase." []	2020588	\N	\N	EFO	4	EFO	experimental factor	phorbol 13-acetate 12-myristate
CHEBI:3755	\N	\N	"" []	CHEBI:3755	"" []	62423	\N	\N	EFO	0	EFO	clomipramine hydrochloride	clomipramine hydrochloride
EFO:0004415	CHEBI:3755	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:3755	"" []	201849	\N	\N	EFO	1	EFO	ionic salt	clomipramine hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3755	"" []	554751	\N	\N	EFO	2	EFO	chemical compound	clomipramine hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3755	"" []	1137451	\N	\N	EFO	3	EFO	chemical entity	clomipramine hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3755	"" []	2020589	\N	\N	EFO	4	EFO	material entity	clomipramine hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3755	"" []	3175515	\N	\N	EFO	5	EFO	experimental factor	clomipramine hydrochloride
CHEBI:37550	\N	\N	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	CHEBI:37550	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	62424	\N	\N	EFO	0	EFO	sphingosine 1-phosphate	sphingosine 1-phosphate
CHEBI:37577	CHEBI:37550	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:37550	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	201850	\N	\N	EFO	1	EFO	chemical compound	sphingosine 1-phosphate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:37550	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	554752	\N	\N	EFO	2	EFO	chemical entity	sphingosine 1-phosphate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:37550	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	1137452	\N	\N	EFO	3	EFO	material entity	sphingosine 1-phosphate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37550	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	2020590	\N	\N	EFO	4	EFO	experimental factor	sphingosine 1-phosphate
CHEBI:37577	\N	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:37577	"A molecular entity consisting of two or more chemical elements." []	62425	\N	\N	EFO	0	EFO	chemical compound	chemical compound
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:37577	"A molecular entity consisting of two or more chemical elements." []	201851	\N	\N	EFO	1	EFO	chemical entity	chemical compound
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:37577	"A molecular entity consisting of two or more chemical elements." []	554753	\N	\N	EFO	2	EFO	material entity	chemical compound
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37577	"A molecular entity consisting of two or more chemical elements." []	1137453	\N	\N	EFO	3	EFO	experimental factor	chemical compound
CHEBI:37585	\N	\N	"A sodium phosphate that has formula H2NaO4P." []	CHEBI:37585	"A sodium phosphate that has formula H2NaO4P." []	62426	\N	\N	EFO	0	EFO	sodium dihydrogenphosphate	sodium dihydrogenphosphate
CHEBI:24431	CHEBI:37585	\N	"" []	CHEBI:37585	"A sodium phosphate that has formula H2NaO4P." []	201852	\N	\N	EFO	1	EFO	chemical entity	sodium dihydrogenphosphate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:37585	"A sodium phosphate that has formula H2NaO4P." []	554754	\N	\N	EFO	2	EFO	material entity	sodium dihydrogenphosphate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37585	"A sodium phosphate that has formula H2NaO4P." []	1137454	\N	\N	EFO	3	EFO	experimental factor	sodium dihydrogenphosphate
CHEBI:3764	\N	\N	"An imidazole that has formula C22H17ClN2." []	CHEBI:3764	"An imidazole that has formula C22H17ClN2." []	62427	\N	\N	EFO	0	EFO	clotrimazole	clotrimazole
CHEBI:37577	CHEBI:3764	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3764	"An imidazole that has formula C22H17ClN2." []	201853	\N	\N	EFO	1	EFO	chemical compound	clotrimazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3764	"An imidazole that has formula C22H17ClN2." []	554755	\N	\N	EFO	2	EFO	chemical entity	clotrimazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3764	"An imidazole that has formula C22H17ClN2." []	1137455	\N	\N	EFO	3	EFO	material entity	clotrimazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3764	"An imidazole that has formula C22H17ClN2." []	2020591	\N	\N	EFO	4	EFO	experimental factor	clotrimazole
CHEBI:3766	\N	\N	"" []	CHEBI:3766	"" []	62428	\N	\N	EFO	0	EFO	clozapine	clozapine
CHEBI:22720	CHEBI:3766	\N	"" []	CHEBI:3766	"" []	201854	\N	\N	EFO	1	EFO	benzodiazepine	clozapine
CHEBI:64207	CHEBI:3766	\N	"" []	CHEBI:3766	"" []	201855	\N	\N	EFO	1	EFO	spiramide	clozapine
CHEBI:23888	CHEBI:22720	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:3766	"" []	554756	\N	\N	EFO	2	EFO	drug	clozapine
CHEBI:23888	CHEBI:64207	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:3766	"" []	554757	\N	\N	EFO	2	EFO	drug	clozapine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3766	"" []	1137456	\N	\N	EFO	3	EFO	chemical compound	clozapine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3766	"" []	2020592	\N	\N	EFO	4	EFO	chemical entity	clozapine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3766	"" []	3175516	\N	\N	EFO	5	EFO	material entity	clozapine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3766	"" []	4386536	\N	\N	EFO	6	EFO	experimental factor	clozapine
CHEBI:37671	\N	\N	"\\"A beta-D-glucan in which the glucose units are connected by (1->3) linkages.\\" []" []	CHEBI:37671	"\\"A beta-D-glucan in which the glucose units are connected by (1->3) linkages.\\" []" []	62429	\N	\N	EFO	0	EFO	(1->3)-beta-D-glucan	(1->3)-beta-D-glucan
CHEBI:37577	CHEBI:37671	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:37671	"\\"A beta-D-glucan in which the glucose units are connected by (1->3) linkages.\\" []" []	201856	\N	\N	EFO	1	EFO	chemical compound	(1->3)-beta-D-glucan
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:37671	"\\"A beta-D-glucan in which the glucose units are connected by (1->3) linkages.\\" []" []	554758	\N	\N	EFO	2	EFO	chemical entity	(1->3)-beta-D-glucan
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:37671	"\\"A beta-D-glucan in which the glucose units are connected by (1->3) linkages.\\" []" []	1137457	\N	\N	EFO	3	EFO	material entity	(1->3)-beta-D-glucan
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37671	"\\"A beta-D-glucan in which the glucose units are connected by (1->3) linkages.\\" []" []	2020593	\N	\N	EFO	4	EFO	experimental factor	(1->3)-beta-D-glucan
CHEBI:37684	\N	\N	"" []	CHEBI:37684	"" []	62430	\N	\N	EFO	0	EFO	mannose	mannose
CHEBI:37577	CHEBI:37684	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:37684	"" []	201857	\N	\N	EFO	1	EFO	chemical compound	mannose
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:37684	"" []	554759	\N	\N	EFO	2	EFO	chemical entity	mannose
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:37684	"" []	1137458	\N	\N	EFO	3	EFO	material entity	mannose
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37684	"" []	2020594	\N	\N	EFO	4	EFO	experimental factor	mannose
CHEBI:37699	\N	\N	"An agent that inhibits protein kinases." []	CHEBI:37699	"An agent that inhibits protein kinases." []	62431	\N	\N	EFO	0	EFO	protein kinase inhibitor	protein kinase inhibitor
CHEBI:23924	CHEBI:37699	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:37699	"An agent that inhibits protein kinases." []	201858	\N	\N	EFO	1	EFO	enzyme inhibitor	protein kinase inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:37699	"An agent that inhibits protein kinases." []	554760	\N	\N	EFO	2	EFO	biological role	protein kinase inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:37699	"An agent that inhibits protein kinases." []	554761	\N	\N	EFO	2	EFO	inhibitor role	protein kinase inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37699	"An agent that inhibits protein kinases." []	1137459	\N	\N	EFO	3	EFO	role	protein kinase inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:37699	"An agent that inhibits protein kinases." []	1137460	\N	\N	EFO	3	EFO	chemical role	protein kinase inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:37699	"An agent that inhibits protein kinases." []	3175518	\N	\N	EFO	5	EFO	material property	protein kinase inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37699	"An agent that inhibits protein kinases." []	2020596	\N	\N	EFO	4	EFO	role	protein kinase inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37699	"An agent that inhibits protein kinases." []	4132401	\N	\N	EFO	6	EFO	experimental factor	protein kinase inhibitor
CHEBI:37700	\N	\N	"" []	CHEBI:37700	"" []	62432	\N	\N	EFO	0	EFO	protein kinase C inhibitor	protein kinase C inhibitor
CHEBI:37699	CHEBI:37700	\N	"An agent that inhibits protein kinases." []	CHEBI:37700	"" []	201859	\N	\N	EFO	1	EFO	protein kinase inhibitor	protein kinase C inhibitor
CHEBI:23924	CHEBI:37699	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:37700	"" []	554762	\N	\N	EFO	2	EFO	enzyme inhibitor	protein kinase C inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:37700	"" []	1137461	\N	\N	EFO	3	EFO	biological role	protein kinase C inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:37700	"" []	1137462	\N	\N	EFO	3	EFO	inhibitor role	protein kinase C inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37700	"" []	2020597	\N	\N	EFO	4	EFO	role	protein kinase C inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:37700	"" []	2020598	\N	\N	EFO	4	EFO	chemical role	protein kinase C inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:37700	"" []	4386538	\N	\N	EFO	6	EFO	material property	protein kinase C inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37700	"" []	3175520	\N	\N	EFO	5	EFO	role	protein kinase C inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37700	"" []	5180797	\N	\N	EFO	7	EFO	experimental factor	protein kinase C inhibitor
CHEBI:37733	\N	\N	"" []	CHEBI:37733	"" []	62433	\N	\N	EFO	0	EFO	cholinesterase inhibitor	cholinesterase inhibitor
CHEBI:23924	CHEBI:37733	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:37733	"" []	201860	\N	\N	EFO	1	EFO	enzyme inhibitor	cholinesterase inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:37733	"" []	554763	\N	\N	EFO	2	EFO	biological role	cholinesterase inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:37733	"" []	554764	\N	\N	EFO	2	EFO	inhibitor role	cholinesterase inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37733	"" []	1137463	\N	\N	EFO	3	EFO	role	cholinesterase inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:37733	"" []	1137464	\N	\N	EFO	3	EFO	chemical role	cholinesterase inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:37733	"" []	3175522	\N	\N	EFO	5	EFO	material property	cholinesterase inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37733	"" []	2020600	\N	\N	EFO	4	EFO	role	cholinesterase inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37733	"" []	4132402	\N	\N	EFO	6	EFO	experimental factor	cholinesterase inhibitor
CHEBI:37758	\N	\N	"" []	CHEBI:37758	"" []	62434	\N	\N	EFO	0	EFO	iodoform	iodoform
CHEBI:37577	CHEBI:37758	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:37758	"" []	201861	\N	\N	EFO	1	EFO	chemical compound	iodoform
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:37758	"" []	554765	\N	\N	EFO	2	EFO	chemical entity	iodoform
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:37758	"" []	1137465	\N	\N	EFO	3	EFO	material entity	iodoform
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37758	"" []	2020601	\N	\N	EFO	4	EFO	experimental factor	iodoform
CHEBI:37845	\N	\N	"A hormone that specifically regulates growth." []	CHEBI:37845	"A hormone that specifically regulates growth." []	62435	\N	\N	EFO	0	EFO	growth hormone	growth hormone
EFO:0001824	CHEBI:37845	\N	"" []	CHEBI:37845	"A hormone that specifically regulates growth." []	201862	\N	\N	EFO	1	EFO	hormone role	growth hormone
CHEBI:24432	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:37845	"A hormone that specifically regulates growth." []	554766	\N	\N	EFO	2	EFO	biological role	growth hormone
CHEBI:51086	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:37845	"A hormone that specifically regulates growth." []	554767	\N	\N	EFO	2	EFO	chemical role	growth hormone
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37845	"A hormone that specifically regulates growth." []	1137466	\N	\N	EFO	3	EFO	role	growth hormone
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37845	"A hormone that specifically regulates growth." []	1137467	\N	\N	EFO	3	EFO	role	growth hormone
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:37845	"A hormone that specifically regulates growth." []	2020602	\N	\N	EFO	4	EFO	material property	growth hormone
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37845	"A hormone that specifically regulates growth." []	3175523	\N	\N	EFO	5	EFO	experimental factor	growth hormone
CHEBI:37848	\N	\N	"" []	CHEBI:37848	"" []	62436	\N	\N	EFO	0	EFO	plant growth hormone	plant growth hormone
CHEBI:26158	CHEBI:37848	\N	"" []	CHEBI:37848	"" []	201863	\N	\N	EFO	1	EFO	phytohormone	plant growth hormone
EFO:0001824	CHEBI:26158	\N	"" []	CHEBI:37848	"" []	554768	\N	\N	EFO	2	EFO	hormone role	plant growth hormone
CHEBI:24432	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:37848	"" []	1137468	\N	\N	EFO	3	EFO	biological role	plant growth hormone
CHEBI:51086	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:37848	"" []	1137469	\N	\N	EFO	3	EFO	chemical role	plant growth hormone
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37848	"" []	2020603	\N	\N	EFO	4	EFO	role	plant growth hormone
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37848	"" []	2020604	\N	\N	EFO	4	EFO	role	plant growth hormone
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:37848	"" []	3175524	\N	\N	EFO	5	EFO	material property	plant growth hormone
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37848	"" []	4386539	\N	\N	EFO	6	EFO	experimental factor	plant growth hormone
CHEBI:37887	\N	\N	"An agent that binds to but does not activate adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists." []	CHEBI:37887	"An agent that binds to but does not activate adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists." []	62437	\N	\N	EFO	0	EFO	adrenergic antagonist	adrenergic antagonist
EFO:0001899	CHEBI:37887	\N	"" []	CHEBI:37887	"An agent that binds to but does not activate adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists." []	201864	\N	\N	EFO	1	EFO	drug role	adrenergic antagonist
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:37887	"An agent that binds to but does not activate adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists." []	554769	\N	\N	EFO	2	EFO	chemical role	adrenergic antagonist
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37887	"An agent that binds to but does not activate adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists." []	1137470	\N	\N	EFO	3	EFO	role	adrenergic antagonist
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:37887	"An agent that binds to but does not activate adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists." []	2020605	\N	\N	EFO	4	EFO	material property	adrenergic antagonist
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37887	"An agent that binds to but does not activate adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists." []	3175525	\N	\N	EFO	5	EFO	experimental factor	adrenergic antagonist
CHEBI:37890	\N	\N	"An agent that binds to but does not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous alpha-adrenergic agonists. alpha-Adrenergic antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma." []	CHEBI:37890	"An agent that binds to but does not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous alpha-adrenergic agonists. alpha-Adrenergic antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma." []	62438	\N	\N	EFO	0	EFO	alpha-adrenergic antagonist	alpha-adrenergic antagonist
EFO:0001899	CHEBI:37890	\N	"" []	CHEBI:37890	"An agent that binds to but does not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous alpha-adrenergic agonists. alpha-Adrenergic antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma." []	201865	\N	\N	EFO	1	EFO	drug role	alpha-adrenergic antagonist
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:37890	"An agent that binds to but does not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous alpha-adrenergic agonists. alpha-Adrenergic antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma." []	554770	\N	\N	EFO	2	EFO	chemical role	alpha-adrenergic antagonist
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37890	"An agent that binds to but does not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous alpha-adrenergic agonists. alpha-Adrenergic antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma." []	1137471	\N	\N	EFO	3	EFO	role	alpha-adrenergic antagonist
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:37890	"An agent that binds to but does not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous alpha-adrenergic agonists. alpha-Adrenergic antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma." []	2020606	\N	\N	EFO	4	EFO	material property	alpha-adrenergic antagonist
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37890	"An agent that binds to but does not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous alpha-adrenergic agonists. alpha-Adrenergic antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma." []	3175526	\N	\N	EFO	5	EFO	experimental factor	alpha-adrenergic antagonist
CHEBI:37930	\N	\N	"" []	CHEBI:37930	"" []	62439	\N	\N	EFO	0	EFO	phenothiazine antipsychotic drug	phenothiazine antipsychotic drug
EFO:0001899	CHEBI:37930	\N	"" []	CHEBI:37930	"" []	201866	\N	\N	EFO	1	EFO	drug role	phenothiazine antipsychotic drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:37930	"" []	554771	\N	\N	EFO	2	EFO	chemical role	phenothiazine antipsychotic drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37930	"" []	1137472	\N	\N	EFO	3	EFO	role	phenothiazine antipsychotic drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:37930	"" []	2020607	\N	\N	EFO	4	EFO	material property	phenothiazine antipsychotic drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37930	"" []	3175527	\N	\N	EFO	5	EFO	experimental factor	phenothiazine antipsychotic drug
CHEBI:37956	\N	\N	"Histamine antagonists are the drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists." []	CHEBI:37956	"Histamine antagonists are the drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists." []	62440	\N	\N	EFO	0	EFO	histamine antagonist	histamine antagonist
EFO:0001899	CHEBI:37956	\N	"" []	CHEBI:37956	"Histamine antagonists are the drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists." []	201867	\N	\N	EFO	1	EFO	drug role	histamine antagonist
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:37956	"Histamine antagonists are the drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists." []	554772	\N	\N	EFO	2	EFO	chemical role	histamine antagonist
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37956	"Histamine antagonists are the drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists." []	1137473	\N	\N	EFO	3	EFO	role	histamine antagonist
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:37956	"Histamine antagonists are the drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists." []	2020608	\N	\N	EFO	4	EFO	material property	histamine antagonist
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37956	"Histamine antagonists are the drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists." []	3175528	\N	\N	EFO	5	EFO	experimental factor	histamine antagonist
CHEBI:37960	\N	\N	"" []	CHEBI:37960	"" []	62441	\N	\N	EFO	0	EFO	dye role	dye role
BFO:0000023	CHEBI:37960	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:37960	"" []	201868	\N	\N	EFO	1	EFO	role	dye role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:37960	"" []	554773	\N	\N	EFO	2	EFO	material property	dye role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37960	"" []	1137474	\N	\N	EFO	3	EFO	experimental factor	dye role
CHEBI:37987	\N	\N	"" []	CHEBI:37987	"" []	62442	\N	\N	EFO	0	EFO	Cy3 dye	Cy3 dye
CHEBI:37577	CHEBI:37987	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:37987	"" []	201869	\N	\N	EFO	1	EFO	chemical compound	Cy3 dye
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:37987	"" []	554774	\N	\N	EFO	2	EFO	chemical entity	Cy3 dye
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:37987	"" []	1137475	\N	\N	EFO	3	EFO	material entity	Cy3 dye
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37987	"" []	2020609	\N	\N	EFO	4	EFO	experimental factor	Cy3 dye
CHEBI:37989	\N	\N	"" []	CHEBI:37989	"" []	62443	\N	\N	EFO	0	EFO	Cy5 dye	Cy5 dye
CHEBI:37577	CHEBI:37989	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:37989	"" []	201870	\N	\N	EFO	1	EFO	chemical compound	Cy5 dye
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:37989	"" []	554775	\N	\N	EFO	2	EFO	chemical entity	Cy5 dye
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:37989	"" []	1137476	\N	\N	EFO	3	EFO	material entity	Cy5 dye
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:37989	"" []	2020610	\N	\N	EFO	4	EFO	experimental factor	Cy5 dye
CHEBI:379896	\N	\N	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	CHEBI:379896	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	62444	\N	\N	EFO	0	EFO	methyltrienolone	methyltrienolone
CHEBI:24621	CHEBI:379896	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:379896	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	201871	\N	\N	EFO	1	EFO	hormone	methyltrienolone
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:379896	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	554776	\N	\N	EFO	2	EFO	chemical compound	methyltrienolone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:379896	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	1137477	\N	\N	EFO	3	EFO	chemical entity	methyltrienolone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:379896	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	2020611	\N	\N	EFO	4	EFO	material entity	methyltrienolone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:379896	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	3175529	\N	\N	EFO	5	EFO	experimental factor	methyltrienolone
CHEBI:38000	\N	\N	"A triazole that has formula C15H18ClN3O." []	CHEBI:38000	"A triazole that has formula C15H18ClN3O." []	62445	\N	\N	EFO	0	EFO	uniconazole-P	uniconazole-P
CHEBI:37577	CHEBI:38000	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:38000	"A triazole that has formula C15H18ClN3O." []	201872	\N	\N	EFO	1	EFO	chemical compound	uniconazole-P
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:38000	"A triazole that has formula C15H18ClN3O." []	554777	\N	\N	EFO	2	EFO	chemical entity	uniconazole-P
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:38000	"A triazole that has formula C15H18ClN3O." []	1137478	\N	\N	EFO	3	EFO	material entity	uniconazole-P
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38000	"A triazole that has formula C15H18ClN3O." []	2020612	\N	\N	EFO	4	EFO	experimental factor	uniconazole-P
CHEBI:38068	\N	\N	"" []	CHEBI:38068	"" []	62446	\N	\N	EFO	0	EFO	antimalarial	antimalarial
EFO:0001899	CHEBI:38068	\N	"" []	CHEBI:38068	"" []	201873	\N	\N	EFO	1	EFO	drug role	antimalarial
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:38068	"" []	554778	\N	\N	EFO	2	EFO	chemical role	antimalarial
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38068	"" []	1137479	\N	\N	EFO	3	EFO	role	antimalarial
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:38068	"" []	2020613	\N	\N	EFO	4	EFO	material property	antimalarial
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38068	"" []	3175530	\N	\N	EFO	5	EFO	experimental factor	antimalarial
CHEBI:38070	\N	\N	"" []	CHEBI:38070	"" []	62447	\N	\N	EFO	0	EFO	anti-arrhythmia drug	anti-arrhythmia drug
EFO:0001899	CHEBI:38070	\N	"" []	CHEBI:38070	"" []	201874	\N	\N	EFO	1	EFO	drug role	anti-arrhythmia drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:38070	"" []	554779	\N	\N	EFO	2	EFO	chemical role	anti-arrhythmia drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38070	"" []	1137480	\N	\N	EFO	3	EFO	role	anti-arrhythmia drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:38070	"" []	2020614	\N	\N	EFO	4	EFO	material property	anti-arrhythmia drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38070	"" []	3175531	\N	\N	EFO	5	EFO	experimental factor	anti-arrhythmia drug
CHEBI:38147	\N	\N	"A drug that has a strengthening effect on the heart or that can increase cardiac output." []	CHEBI:38147	"A drug that has a strengthening effect on the heart or that can increase cardiac output." []	62448	\N	\N	EFO	0	EFO	cardiotonic drug	cardiotonic drug
EFO:0001899	CHEBI:38147	\N	"" []	CHEBI:38147	"A drug that has a strengthening effect on the heart or that can increase cardiac output." []	201875	\N	\N	EFO	1	EFO	drug role	cardiotonic drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:38147	"A drug that has a strengthening effect on the heart or that can increase cardiac output." []	554780	\N	\N	EFO	2	EFO	chemical role	cardiotonic drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38147	"A drug that has a strengthening effect on the heart or that can increase cardiac output." []	1137481	\N	\N	EFO	3	EFO	role	cardiotonic drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:38147	"A drug that has a strengthening effect on the heart or that can increase cardiac output." []	2020615	\N	\N	EFO	4	EFO	material property	cardiotonic drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38147	"A drug that has a strengthening effect on the heart or that can increase cardiac output." []	3175532	\N	\N	EFO	5	EFO	experimental factor	cardiotonic drug
CHEBI:38211	\N	\N	"A bromate salt that has formula BrKO3." []	CHEBI:38211	"A bromate salt that has formula BrKO3." []	62449	\N	\N	EFO	0	EFO	potassium bromate	potassium bromate
EFO:0004415	CHEBI:38211	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:38211	"A bromate salt that has formula BrKO3." []	201876	\N	\N	EFO	1	EFO	ionic salt	potassium bromate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:38211	"A bromate salt that has formula BrKO3." []	554781	\N	\N	EFO	2	EFO	chemical compound	potassium bromate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:38211	"A bromate salt that has formula BrKO3." []	1137482	\N	\N	EFO	3	EFO	chemical entity	potassium bromate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:38211	"A bromate salt that has formula BrKO3." []	2020616	\N	\N	EFO	4	EFO	material entity	potassium bromate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38211	"A bromate salt that has formula BrKO3." []	3175533	\N	\N	EFO	5	EFO	experimental factor	potassium bromate
CHEBI:38215	\N	\N	"One of a class of drugs that acts by selective inhibition of calcium influx through cell membranes or on the release and binding of calcium in intracellular pools." []	CHEBI:38215	"One of a class of drugs that acts by selective inhibition of calcium influx through cell membranes or on the release and binding of calcium in intracellular pools." []	62450	\N	\N	EFO	0	EFO	calcium channel blocker	calcium channel blocker
EFO:0001899	CHEBI:38215	\N	"" []	CHEBI:38215	"One of a class of drugs that acts by selective inhibition of calcium influx through cell membranes or on the release and binding of calcium in intracellular pools." []	201877	\N	\N	EFO	1	EFO	drug role	calcium channel blocker
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:38215	"One of a class of drugs that acts by selective inhibition of calcium influx through cell membranes or on the release and binding of calcium in intracellular pools." []	554782	\N	\N	EFO	2	EFO	chemical role	calcium channel blocker
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38215	"One of a class of drugs that acts by selective inhibition of calcium influx through cell membranes or on the release and binding of calcium in intracellular pools." []	1137483	\N	\N	EFO	3	EFO	role	calcium channel blocker
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:38215	"One of a class of drugs that acts by selective inhibition of calcium influx through cell membranes or on the release and binding of calcium in intracellular pools." []	2020617	\N	\N	EFO	4	EFO	material property	calcium channel blocker
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38215	"One of a class of drugs that acts by selective inhibition of calcium influx through cell membranes or on the release and binding of calcium in intracellular pools." []	3175534	\N	\N	EFO	5	EFO	experimental factor	calcium channel blocker
CHEBI:38462	\N	\N	"Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid." []	CHEBI:38462	"Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid." []	62451	\N	\N	EFO	0	EFO	acetylcholinesterase inhibitor	acetylcholinesterase inhibitor
CHEBI:23924	CHEBI:38462	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:38462	"Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid." []	201878	\N	\N	EFO	1	EFO	enzyme inhibitor	acetylcholinesterase inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:38462	"Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid." []	554783	\N	\N	EFO	2	EFO	biological role	acetylcholinesterase inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:38462	"Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid." []	554784	\N	\N	EFO	2	EFO	inhibitor role	acetylcholinesterase inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38462	"Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid." []	1137484	\N	\N	EFO	3	EFO	role	acetylcholinesterase inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:38462	"Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid." []	1137485	\N	\N	EFO	3	EFO	chemical role	acetylcholinesterase inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:38462	"Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid." []	3175536	\N	\N	EFO	5	EFO	material property	acetylcholinesterase inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38462	"Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid." []	2020619	\N	\N	EFO	4	EFO	role	acetylcholinesterase inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38462	"Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid." []	4132403	\N	\N	EFO	6	EFO	experimental factor	acetylcholinesterase inhibitor
CHEBI:38472	\N	\N	"A nitrile that has formula C2H3N." []	CHEBI:38472	"A nitrile that has formula C2H3N." []	62452	\N	\N	EFO	0	EFO	acetonitrile	acetonitrile
CHEBI:37577	CHEBI:38472	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:38472	"A nitrile that has formula C2H3N." []	201879	\N	\N	EFO	1	EFO	chemical compound	acetonitrile
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:38472	"A nitrile that has formula C2H3N." []	554785	\N	\N	EFO	2	EFO	chemical entity	acetonitrile
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:38472	"A nitrile that has formula C2H3N." []	1137486	\N	\N	EFO	3	EFO	material entity	acetonitrile
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38472	"A nitrile that has formula C2H3N." []	2020620	\N	\N	EFO	4	EFO	experimental factor	acetonitrile
CHEBI:38498	\N	\N	"" []	CHEBI:38498	"" []	62453	\N	\N	EFO	0	EFO	mitochondrial NADH:ubiquinone reductase inhibitor	mitochondrial NADH:ubiquinone reductase inhibitor
CHEBI:25355	CHEBI:38498	\N	"" []	CHEBI:38498	"" []	201880	\N	\N	EFO	1	EFO	mitochondrial respiratory-chain inhibitor	mitochondrial NADH:ubiquinone reductase inhibitor
CHEBI:23924	CHEBI:25355	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:38498	"" []	554786	\N	\N	EFO	2	EFO	enzyme inhibitor	mitochondrial NADH:ubiquinone reductase inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:38498	"" []	1137487	\N	\N	EFO	3	EFO	biological role	mitochondrial NADH:ubiquinone reductase inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:38498	"" []	1137488	\N	\N	EFO	3	EFO	inhibitor role	mitochondrial NADH:ubiquinone reductase inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38498	"" []	2020621	\N	\N	EFO	4	EFO	role	mitochondrial NADH:ubiquinone reductase inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:38498	"" []	2020622	\N	\N	EFO	4	EFO	chemical role	mitochondrial NADH:ubiquinone reductase inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:38498	"" []	4386541	\N	\N	EFO	6	EFO	material property	mitochondrial NADH:ubiquinone reductase inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38498	"" []	3175538	\N	\N	EFO	5	EFO	role	mitochondrial NADH:ubiquinone reductase inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38498	"" []	5180798	\N	\N	EFO	7	EFO	experimental factor	mitochondrial NADH:ubiquinone reductase inhibitor
CHEBI:38545	\N	\N	"" []	CHEBI:38545	"" []	62454	\N	\N	EFO	0	EFO	rosuvastatin	rosuvastatin
CHEBI:37577	CHEBI:38545	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:38545	"" []	201881	\N	\N	EFO	1	EFO	chemical compound	rosuvastatin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:38545	"" []	554787	\N	\N	EFO	2	EFO	chemical entity	rosuvastatin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:38545	"" []	1137489	\N	\N	EFO	3	EFO	material entity	rosuvastatin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38545	"" []	2020623	\N	\N	EFO	4	EFO	experimental factor	rosuvastatin
CHEBI:38559	\N	\N	"" []	CHEBI:38559	"" []	62455	\N	\N	EFO	0	EFO	cytochrome P450	cytochrome P450
CHEBI:37577	CHEBI:38559	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:38559	"" []	201882	\N	\N	EFO	1	EFO	chemical compound	cytochrome P450
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:38559	"" []	554788	\N	\N	EFO	2	EFO	chemical entity	cytochrome P450
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:38559	"" []	1137490	\N	\N	EFO	3	EFO	material entity	cytochrome P450
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38559	"" []	2020624	\N	\N	EFO	4	EFO	experimental factor	cytochrome P450
CHEBI:38593	\N	\N	"A quinazoline that has formula C20H22N2O." []	CHEBI:38593	"A quinazoline that has formula C20H22N2O." []	62456	\N	\N	EFO	0	EFO	fenazaquin	fenazaquin
CHEBI:23888	CHEBI:38593	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:38593	"A quinazoline that has formula C20H22N2O." []	201883	\N	\N	EFO	1	EFO	drug	fenazaquin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:38593	"A quinazoline that has formula C20H22N2O." []	554789	\N	\N	EFO	2	EFO	chemical compound	fenazaquin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:38593	"A quinazoline that has formula C20H22N2O." []	1137491	\N	\N	EFO	3	EFO	chemical entity	fenazaquin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:38593	"A quinazoline that has formula C20H22N2O." []	2020625	\N	\N	EFO	4	EFO	material entity	fenazaquin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38593	"A quinazoline that has formula C20H22N2O." []	3175539	\N	\N	EFO	5	EFO	experimental factor	fenazaquin
CHEBI:38637	\N	\N	"" []	CHEBI:38637	"" []	62457	\N	\N	EFO	0	EFO	tyrosine kinase inhibitor	tyrosine kinase inhibitor
CHEBI:24432	CHEBI:38637	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:38637	"" []	201884	\N	\N	EFO	1	EFO	biological role	tyrosine kinase inhibitor
CHEBI:51086	CHEBI:38637	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:38637	"" []	201885	\N	\N	EFO	1	EFO	chemical role	tyrosine kinase inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38637	"" []	554790	\N	\N	EFO	2	EFO	role	tyrosine kinase inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38637	"" []	554791	\N	\N	EFO	2	EFO	role	tyrosine kinase inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:38637	"" []	1137492	\N	\N	EFO	3	EFO	material property	tyrosine kinase inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38637	"" []	2020626	\N	\N	EFO	4	EFO	experimental factor	tyrosine kinase inhibitor
CHEBI:38786	\N	\N	"An organothiophosphate insecticide that has formula C11H12NO4PS2." []	CHEBI:38786	"An organothiophosphate insecticide that has formula C11H12NO4PS2." []	62458	\N	\N	EFO	0	EFO	phosmet	phosmet
CHEBI:37577	CHEBI:38786	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:38786	"An organothiophosphate insecticide that has formula C11H12NO4PS2." []	201886	\N	\N	EFO	1	EFO	chemical compound	phosmet
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:38786	"An organothiophosphate insecticide that has formula C11H12NO4PS2." []	554792	\N	\N	EFO	2	EFO	chemical entity	phosmet
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:38786	"An organothiophosphate insecticide that has formula C11H12NO4PS2." []	1137493	\N	\N	EFO	3	EFO	material entity	phosmet
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38786	"An organothiophosphate insecticide that has formula C11H12NO4PS2." []	2020627	\N	\N	EFO	4	EFO	experimental factor	phosmet
CHEBI:38828	\N	\N	"A surfactant with an uncharged hydrophilic headgroup." []	CHEBI:38828	"A surfactant with an uncharged hydrophilic headgroup." []	62459	\N	\N	EFO	0	EFO	non ionic surfactant role	non ionic surfactant role
CHEBI:35195	CHEBI:38828	\N	"A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces." []	CHEBI:38828	"A surfactant with an uncharged hydrophilic headgroup." []	201887	\N	\N	EFO	1	EFO	surfactant role	non ionic surfactant role
CHEBI:51086	CHEBI:35195	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:38828	"A surfactant with an uncharged hydrophilic headgroup." []	554793	\N	\N	EFO	2	EFO	chemical role	non ionic surfactant role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38828	"A surfactant with an uncharged hydrophilic headgroup." []	1137494	\N	\N	EFO	3	EFO	role	non ionic surfactant role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:38828	"A surfactant with an uncharged hydrophilic headgroup." []	2020628	\N	\N	EFO	4	EFO	material property	non ionic surfactant role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38828	"A surfactant with an uncharged hydrophilic headgroup." []	3175540	\N	\N	EFO	5	EFO	experimental factor	non ionic surfactant role
CHEBI:38866	\N	\N	"" []	CHEBI:38866	"" []	62460	\N	\N	EFO	0	EFO	tetrafluoroethene	tetrafluoroethene
CHEBI:37577	CHEBI:38866	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:38866	"" []	201888	\N	\N	EFO	1	EFO	chemical compound	tetrafluoroethene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:38866	"" []	554794	\N	\N	EFO	2	EFO	chemical entity	tetrafluoroethene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:38866	"" []	1137495	\N	\N	EFO	3	EFO	material entity	tetrafluoroethene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38866	"" []	2020629	\N	\N	EFO	4	EFO	experimental factor	tetrafluoroethene
CHEBI:38870	\N	\N	"" []	CHEBI:38870	"" []	62461	\N	\N	EFO	0	EFO	inhalation anaesthetic	inhalation anaesthetic
EFO:0001899	CHEBI:38870	\N	"" []	CHEBI:38870	"" []	201889	\N	\N	EFO	1	EFO	drug role	inhalation anaesthetic
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:38870	"" []	554795	\N	\N	EFO	2	EFO	chemical role	inhalation anaesthetic
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38870	"" []	1137496	\N	\N	EFO	3	EFO	role	inhalation anaesthetic
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:38870	"" []	2020630	\N	\N	EFO	4	EFO	material property	inhalation anaesthetic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38870	"" []	3175541	\N	\N	EFO	5	EFO	experimental factor	inhalation anaesthetic
CHEBI:38877	\N	\N	"" []	CHEBI:38877	"" []	62462	\N	\N	EFO	0	EFO	intravenous anaesthetic	intravenous anaesthetic
EFO:0001899	CHEBI:38877	\N	"" []	CHEBI:38877	"" []	201890	\N	\N	EFO	1	EFO	drug role	intravenous anaesthetic
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:38877	"" []	554796	\N	\N	EFO	2	EFO	chemical role	intravenous anaesthetic
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:38877	"" []	1137497	\N	\N	EFO	3	EFO	role	intravenous anaesthetic
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:38877	"" []	2020631	\N	\N	EFO	4	EFO	material property	intravenous anaesthetic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38877	"" []	3175542	\N	\N	EFO	5	EFO	experimental factor	intravenous anaesthetic
CHEBI:3892	\N	\N	"A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency." []	CHEBI:3892	"A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency." []	62463	\N	\N	EFO	0	EFO	adrenocorticotropic hormone	adrenocorticotropic hormone
CHEBI:24621	CHEBI:3892	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:3892	"A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency." []	201891	\N	\N	EFO	1	EFO	hormone	adrenocorticotropic hormone
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3892	"A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency." []	554797	\N	\N	EFO	2	EFO	chemical compound	adrenocorticotropic hormone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3892	"A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency." []	1137498	\N	\N	EFO	3	EFO	chemical entity	adrenocorticotropic hormone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3892	"A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency." []	2020632	\N	\N	EFO	4	EFO	material entity	adrenocorticotropic hormone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3892	"A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency." []	3175543	\N	\N	EFO	5	EFO	experimental factor	adrenocorticotropic hormone
CHEBI:38940	\N	\N	"A pyrrole that has formula C22H27FN4O2." []	CHEBI:38940	"A pyrrole that has formula C22H27FN4O2." []	62464	\N	\N	EFO	0	EFO	sunitinib	sunitinib
CHEBI:23888	CHEBI:38940	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:38940	"A pyrrole that has formula C22H27FN4O2." []	201892	\N	\N	EFO	1	EFO	drug	sunitinib
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:38940	"A pyrrole that has formula C22H27FN4O2." []	554798	\N	\N	EFO	2	EFO	chemical compound	sunitinib
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:38940	"A pyrrole that has formula C22H27FN4O2." []	1137499	\N	\N	EFO	3	EFO	chemical entity	sunitinib
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:38940	"A pyrrole that has formula C22H27FN4O2." []	2020633	\N	\N	EFO	4	EFO	material entity	sunitinib
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:38940	"A pyrrole that has formula C22H27FN4O2." []	3175544	\N	\N	EFO	5	EFO	experimental factor	sunitinib
CHEBI:39026	\N	\N	"" []	CHEBI:39026	"" []	62465	\N	\N	EFO	0	EFO	low-density lipoprotein	low-density lipoprotein
CHEBI:37577	CHEBI:39026	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:39026	"" []	201893	\N	\N	EFO	1	EFO	chemical compound	low-density lipoprotein
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:39026	"" []	554799	\N	\N	EFO	2	EFO	chemical entity	low-density lipoprotein
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:39026	"" []	1137500	\N	\N	EFO	3	EFO	material entity	low-density lipoprotein
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:39026	"" []	2020634	\N	\N	EFO	4	EFO	experimental factor	low-density lipoprotein
CHEBI:39116	\N	\N	"" []	CHEBI:39116	"" []	62466	\N	\N	EFO	0	EFO	pyrethroid ester insecticide	pyrethroid ester insecticide
CHEBI:24852	CHEBI:39116	\N	"A substance used to destroy pests of the class Insecta." []	CHEBI:39116	"" []	201894	\N	\N	EFO	1	EFO	insecticide	pyrethroid ester insecticide
CHEBI:24432	CHEBI:24852	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:39116	"" []	554800	\N	\N	EFO	2	EFO	biological role	pyrethroid ester insecticide
CHEBI:51086	CHEBI:24852	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:39116	"" []	554801	\N	\N	EFO	2	EFO	chemical role	pyrethroid ester insecticide
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:39116	"" []	1137501	\N	\N	EFO	3	EFO	role	pyrethroid ester insecticide
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:39116	"" []	1137502	\N	\N	EFO	3	EFO	role	pyrethroid ester insecticide
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:39116	"" []	2020635	\N	\N	EFO	4	EFO	material property	pyrethroid ester insecticide
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:39116	"" []	3175545	\N	\N	EFO	5	EFO	experimental factor	pyrethroid ester insecticide
CHEBI:39177	\N	\N	"" []	CHEBI:39177	"" []	62467	\N	\N	EFO	0	EFO	(E)-clothianidin	(E)-clothianidin
CHEBI:37577	CHEBI:39177	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:39177	"" []	201895	\N	\N	EFO	1	EFO	chemical compound	(E)-clothianidin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:39177	"" []	554802	\N	\N	EFO	2	EFO	chemical entity	(E)-clothianidin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:39177	"" []	1137503	\N	\N	EFO	3	EFO	material entity	(E)-clothianidin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:39177	"" []	2020636	\N	\N	EFO	4	EFO	experimental factor	(E)-clothianidin
CHEBI:39214	\N	\N	"Mixture of 80% avermectin B1a and 20% avermectin B1b." []	CHEBI:39214	"Mixture of 80% avermectin B1a and 20% avermectin B1b." []	62468	\N	\N	EFO	0	EFO	abamectin	abamectin
CHEBI:37577	CHEBI:39214	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:39214	"Mixture of 80% avermectin B1a and 20% avermectin B1b." []	201896	\N	\N	EFO	1	EFO	chemical compound	abamectin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:39214	"Mixture of 80% avermectin B1a and 20% avermectin B1b." []	554803	\N	\N	EFO	2	EFO	chemical entity	abamectin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:39214	"Mixture of 80% avermectin B1a and 20% avermectin B1b." []	1137504	\N	\N	EFO	3	EFO	material entity	abamectin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:39214	"Mixture of 80% avermectin B1a and 20% avermectin B1b." []	2020637	\N	\N	EFO	4	EFO	experimental factor	abamectin
CHEBI:39268	\N	\N	"" []	CHEBI:39268	"" []	62469	\N	\N	EFO	0	EFO	dibenzothiazepine	dibenzothiazepine
CHEBI:24532	CHEBI:39268	\N	"" []	CHEBI:39268	"" []	201897	\N	\N	EFO	1	EFO	organic heterocyclic compound	dibenzothiazepine
CHEBI:37577	CHEBI:24532	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:39268	"" []	554804	\N	\N	EFO	2	EFO	chemical compound	dibenzothiazepine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:39268	"" []	1137505	\N	\N	EFO	3	EFO	chemical entity	dibenzothiazepine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:39268	"" []	2020638	\N	\N	EFO	4	EFO	material entity	dibenzothiazepine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:39268	"" []	3175546	\N	\N	EFO	5	EFO	experimental factor	dibenzothiazepine
CHEBI:39352	\N	\N	"" []	CHEBI:39352	"" []	62470	\N	\N	EFO	0	EFO	dinitrophenol	dinitrophenol
CHEBI:37577	CHEBI:39352	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:39352	"" []	201898	\N	\N	EFO	1	EFO	chemical compound	dinitrophenol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:39352	"" []	554805	\N	\N	EFO	2	EFO	chemical entity	dinitrophenol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:39352	"" []	1137506	\N	\N	EFO	3	EFO	material entity	dinitrophenol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:39352	"" []	2020639	\N	\N	EFO	4	EFO	experimental factor	dinitrophenol
CHEBI:39384	\N	\N	"This gene is involved in cell adhesion, differentiation, division and stress response." []	CHEBI:39384	"This gene is involved in cell adhesion, differentiation, division and stress response." []	62471	\N	\N	EFO	0	EFO	lufenuron	lufenuron
CHEBI:37577	CHEBI:39384	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:39384	"This gene is involved in cell adhesion, differentiation, division and stress response." []	201899	\N	\N	EFO	1	EFO	chemical compound	lufenuron
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:39384	"This gene is involved in cell adhesion, differentiation, division and stress response." []	554806	\N	\N	EFO	2	EFO	chemical entity	lufenuron
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:39384	"This gene is involved in cell adhesion, differentiation, division and stress response." []	1137507	\N	\N	EFO	3	EFO	material entity	lufenuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:39384	"This gene is involved in cell adhesion, differentiation, division and stress response." []	2020640	\N	\N	EFO	4	EFO	experimental factor	lufenuron
CHEBI:39548	\N	\N	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	CHEBI:39548	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	62472	\N	\N	EFO	0	EFO	atorvastatin	atorvastatin
CHEBI:23888	CHEBI:39548	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:39548	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	201900	\N	\N	EFO	1	EFO	drug	atorvastatin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:39548	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	554807	\N	\N	EFO	2	EFO	chemical compound	atorvastatin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:39548	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	1137508	\N	\N	EFO	3	EFO	chemical entity	atorvastatin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:39548	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	2020641	\N	\N	EFO	4	EFO	material entity	atorvastatin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:39548	"Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression." []	3175547	\N	\N	EFO	5	EFO	experimental factor	atorvastatin
CHEBI:3962	\N	\N	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	CHEBI:3962	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	62473	\N	\N	EFO	0	EFO	curcumin	curcumin
CHEBI:37577	CHEBI:3962	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:3962	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	201901	\N	\N	EFO	1	EFO	chemical compound	curcumin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:3962	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	554808	\N	\N	EFO	2	EFO	chemical entity	curcumin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:3962	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	1137509	\N	\N	EFO	3	EFO	material entity	curcumin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:3962	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	2020642	\N	\N	EFO	4	EFO	experimental factor	curcumin
CHEBI:39867	\N	\N	"" []	CHEBI:39867	"" []	62474	\N	\N	EFO	0	EFO	valproic acid	valproic acid
CHEBI:23888	CHEBI:39867	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:39867	"" []	201902	\N	\N	EFO	1	EFO	drug	valproic acid
EFO:0004416	CHEBI:39867	\N	"" []	CHEBI:39867	"" []	201903	\N	\N	EFO	1	EFO	acid	valproic acid
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:39867	"" []	554809	\N	\N	EFO	2	EFO	chemical compound	valproic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:39867	"" []	554810	\N	\N	EFO	2	EFO	chemical compound	valproic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:39867	"" []	1137510	\N	\N	EFO	3	EFO	chemical entity	valproic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:39867	"" []	2020643	\N	\N	EFO	4	EFO	material entity	valproic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:39867	"" []	3175548	\N	\N	EFO	5	EFO	experimental factor	valproic acid
CHEBI:40036	\N	\N	"A member of the class of  triazoles that is 1H-1,2,4-triazole substituted by an amino group at position 3." []	CHEBI:40036	"A member of the class of  triazoles that is 1H-1,2,4-triazole substituted by an amino group at position 3." []	62475	\N	\N	EFO	0	EFO	amitrole	amitrole
CHEBI:37577	CHEBI:40036	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:40036	"A member of the class of  triazoles that is 1H-1,2,4-triazole substituted by an amino group at position 3." []	201904	\N	\N	EFO	1	EFO	chemical compound	amitrole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:40036	"A member of the class of  triazoles that is 1H-1,2,4-triazole substituted by an amino group at position 3." []	554811	\N	\N	EFO	2	EFO	chemical entity	amitrole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:40036	"A member of the class of  triazoles that is 1H-1,2,4-triazole substituted by an amino group at position 3." []	1137511	\N	\N	EFO	3	EFO	material entity	amitrole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:40036	"A member of the class of  triazoles that is 1H-1,2,4-triazole substituted by an amino group at position 3." []	2020644	\N	\N	EFO	4	EFO	experimental factor	amitrole
CHEBI:4026	\N	\N	"" []	CHEBI:4026	"" []	62476	\N	\N	EFO	0	EFO	cyclophosphamide hydrate	cyclophosphamide hydrate
CHEBI:37577	CHEBI:4026	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4026	"" []	201905	\N	\N	EFO	1	EFO	chemical compound	cyclophosphamide hydrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4026	"" []	554812	\N	\N	EFO	2	EFO	chemical entity	cyclophosphamide hydrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4026	"" []	1137512	\N	\N	EFO	3	EFO	material entity	cyclophosphamide hydrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4026	"" []	2020645	\N	\N	EFO	4	EFO	experimental factor	cyclophosphamide hydrate
CHEBI:4027	\N	\N	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	CHEBI:4027	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	62477	\N	\N	EFO	0	EFO	cyclophosphamide	cyclophosphamide
CHEBI:59219	CHEBI:4027	\N	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	CHEBI:4027	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	201906	\N	\N	EFO	1	EFO	caerulein	cyclophosphamide
EFO:0004417	CHEBI:4027	\N	"" []	CHEBI:4027	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	201907	\N	\N	EFO	1	EFO	amide	cyclophosphamide
CHEBI:37577	CHEBI:59219	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4027	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	554813	\N	\N	EFO	2	EFO	chemical compound	cyclophosphamide
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4027	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	554814	\N	\N	EFO	2	EFO	chemical compound	cyclophosphamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4027	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	1137513	\N	\N	EFO	3	EFO	chemical entity	cyclophosphamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4027	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	2020646	\N	\N	EFO	4	EFO	material entity	cyclophosphamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4027	"Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression." []	3175549	\N	\N	EFO	5	EFO	experimental factor	cyclophosphamide
CHEBI:40279	\N	\N	"" []	CHEBI:40279	"" []	62478	\N	\N	EFO	0	EFO	allopurinol	allopurinol
CHEBI:37577	CHEBI:40279	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:40279	"" []	201908	\N	\N	EFO	1	EFO	chemical compound	allopurinol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:40279	"" []	554815	\N	\N	EFO	2	EFO	chemical entity	allopurinol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:40279	"" []	1137514	\N	\N	EFO	3	EFO	material entity	allopurinol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:40279	"" []	2020647	\N	\N	EFO	4	EFO	experimental factor	allopurinol
CHEBI:4031	\N	\N	"" []	CHEBI:4031	"" []	62479	\N	\N	EFO	0	EFO	cyclosporin A	cyclosporin A
CHEBI:23888	CHEBI:4031	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:4031	"" []	201909	\N	\N	EFO	1	EFO	drug	cyclosporin A
CHEBI:24431	CHEBI:4031	\N	"" []	CHEBI:4031	"" []	201910	\N	\N	EFO	1	EFO	chemical entity	cyclosporin A
CHEBI:59219	CHEBI:4031	\N	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	CHEBI:4031	"" []	201911	\N	\N	EFO	1	EFO	caerulein	cyclosporin A
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4031	"" []	554816	\N	\N	EFO	2	EFO	chemical compound	cyclosporin A
CHEBI:37577	CHEBI:59219	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4031	"" []	554817	\N	\N	EFO	2	EFO	chemical compound	cyclosporin A
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4031	"" []	1137515	\N	\N	EFO	3	EFO	chemical entity	cyclosporin A
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4031	"" []	2020648	\N	\N	EFO	4	EFO	material entity	cyclosporin A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4031	"" []	3175550	\N	\N	EFO	5	EFO	experimental factor	cyclosporin A
CHEBI:4034	\N	\N	"" []	CHEBI:4034	"" []	62480	\N	\N	EFO	0	EFO	cyfluthrin	cyfluthrin
CHEBI:37577	CHEBI:4034	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4034	"" []	201912	\N	\N	EFO	1	EFO	chemical compound	cyfluthrin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4034	"" []	554818	\N	\N	EFO	2	EFO	chemical entity	cyfluthrin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4034	"" []	1137516	\N	\N	EFO	3	EFO	material entity	cyfluthrin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4034	"" []	2020649	\N	\N	EFO	4	EFO	experimental factor	cyfluthrin
CHEBI:40909	\N	\N	"" []	CHEBI:40909	"" []	62481	\N	\N	EFO	0	EFO	azoxystrobin	azoxystrobin
CHEBI:37577	CHEBI:40909	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:40909	"" []	201913	\N	\N	EFO	1	EFO	chemical compound	azoxystrobin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:40909	"" []	554819	\N	\N	EFO	2	EFO	chemical entity	azoxystrobin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:40909	"" []	1137517	\N	\N	EFO	3	EFO	material entity	azoxystrobin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:40909	"" []	2020650	\N	\N	EFO	4	EFO	experimental factor	azoxystrobin
CHEBI:41423	\N	\N	"A pyrazole that has formula C17H14F3N3O2S." []	CHEBI:41423	"A pyrazole that has formula C17H14F3N3O2S." []	62482	\N	\N	EFO	0	EFO	celecoxib	celecoxib
CHEBI:23888	CHEBI:41423	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:41423	"A pyrazole that has formula C17H14F3N3O2S." []	201914	\N	\N	EFO	1	EFO	drug	celecoxib
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:41423	"A pyrazole that has formula C17H14F3N3O2S." []	554820	\N	\N	EFO	2	EFO	chemical compound	celecoxib
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:41423	"A pyrazole that has formula C17H14F3N3O2S." []	1137518	\N	\N	EFO	3	EFO	chemical entity	celecoxib
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:41423	"A pyrazole that has formula C17H14F3N3O2S." []	2020651	\N	\N	EFO	4	EFO	material entity	celecoxib
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:41423	"A pyrazole that has formula C17H14F3N3O2S." []	3175551	\N	\N	EFO	5	EFO	experimental factor	celecoxib
CHEBI:41500	\N	\N	"" []	CHEBI:41500	"" []	62483	\N	\N	EFO	0	EFO	4-phenylbutyric acid	4-phenylbutyric acid
EFO:0004416	CHEBI:41500	\N	"" []	CHEBI:41500	"" []	201915	\N	\N	EFO	1	EFO	acid	4-phenylbutyric acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:41500	"" []	554821	\N	\N	EFO	2	EFO	chemical compound	4-phenylbutyric acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:41500	"" []	1137519	\N	\N	EFO	3	EFO	chemical entity	4-phenylbutyric acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:41500	"" []	2020652	\N	\N	EFO	4	EFO	material entity	4-phenylbutyric acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:41500	"" []	3175552	\N	\N	EFO	5	EFO	experimental factor	4-phenylbutyric acid
CHEBI:41774	\N	\N	"" []	CHEBI:41774	"" []	62484	\N	\N	EFO	0	EFO	tamoxifen	tamoxifen
CHEBI:23888	CHEBI:41774	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:41774	"" []	201916	\N	\N	EFO	1	EFO	drug	tamoxifen
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:41774	"" []	554822	\N	\N	EFO	2	EFO	chemical compound	tamoxifen
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:41774	"" []	1137520	\N	\N	EFO	3	EFO	chemical entity	tamoxifen
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:41774	"" []	2020653	\N	\N	EFO	4	EFO	material entity	tamoxifen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:41774	"" []	3175553	\N	\N	EFO	5	EFO	experimental factor	tamoxifen
CHEBI:41879	\N	\N	"A fluorinated steroid that has formula C22H29FO5." []	CHEBI:41879	"A fluorinated steroid that has formula C22H29FO5." []	62485	\N	\N	EFO	0	EFO	dexamethasone	dexamethasone
CHEBI:37577	CHEBI:41879	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:41879	"A fluorinated steroid that has formula C22H29FO5." []	201917	\N	\N	EFO	1	EFO	chemical compound	dexamethasone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:41879	"A fluorinated steroid that has formula C22H29FO5." []	554823	\N	\N	EFO	2	EFO	chemical entity	dexamethasone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:41879	"A fluorinated steroid that has formula C22H29FO5." []	1137521	\N	\N	EFO	3	EFO	material entity	dexamethasone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:41879	"A fluorinated steroid that has formula C22H29FO5." []	2020654	\N	\N	EFO	4	EFO	experimental factor	dexamethasone
CHEBI:41922	\N	\N	"An estrogen that has formula C18H20O2." []	CHEBI:41922	"An estrogen that has formula C18H20O2." []	62486	\N	\N	EFO	0	EFO	diethylstilbestrol	diethylstilbestrol
CHEBI:23888	CHEBI:41922	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:41922	"An estrogen that has formula C18H20O2." []	201918	\N	\N	EFO	1	EFO	drug	diethylstilbestrol
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:41922	"An estrogen that has formula C18H20O2." []	554824	\N	\N	EFO	2	EFO	chemical compound	diethylstilbestrol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:41922	"An estrogen that has formula C18H20O2." []	1137522	\N	\N	EFO	3	EFO	chemical entity	diethylstilbestrol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:41922	"An estrogen that has formula C18H20O2." []	2020655	\N	\N	EFO	4	EFO	material entity	diethylstilbestrol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:41922	"An estrogen that has formula C18H20O2." []	3175554	\N	\N	EFO	5	EFO	experimental factor	diethylstilbestrol
CHEBI:42017	\N	\N	"The sixth of the seven cervical vertebrae." []	CHEBI:42017	"The sixth of the seven cervical vertebrae." []	62487	\N	\N	EFO	0	EFO	2,4-dinitrophenol	2,4-dinitrophenol
CHEBI:37577	CHEBI:42017	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:42017	"The sixth of the seven cervical vertebrae." []	201919	\N	\N	EFO	1	EFO	chemical compound	2,4-dinitrophenol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:42017	"The sixth of the seven cervical vertebrae." []	554825	\N	\N	EFO	2	EFO	chemical entity	2,4-dinitrophenol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:42017	"The sixth of the seven cervical vertebrae." []	1137523	\N	\N	EFO	3	EFO	material entity	2,4-dinitrophenol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:42017	"The sixth of the seven cervical vertebrae." []	2020656	\N	\N	EFO	4	EFO	experimental factor	2,4-dinitrophenol
CHEBI:42111	\N	\N	"" []	CHEBI:42111	"" []	62488	\N	\N	EFO	0	EFO	(R)-lactic acid	(R)-lactic acid
CHEBI:37577	CHEBI:42111	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:42111	"" []	201920	\N	\N	EFO	1	EFO	chemical compound	(R)-lactic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:42111	"" []	554826	\N	\N	EFO	2	EFO	chemical entity	(R)-lactic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:42111	"" []	1137524	\N	\N	EFO	3	EFO	material entity	(R)-lactic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:42111	"" []	2020657	\N	\N	EFO	4	EFO	experimental factor	(R)-lactic acid
CHEBI:42191	\N	\N	"" []	CHEBI:42191	"" []	62489	\N	\N	EFO	0	EFO	ethylenediaminetetraacetic acid	ethylenediaminetetraacetic acid
CHEBI:37577	CHEBI:42191	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:42191	"" []	201921	\N	\N	EFO	1	EFO	chemical compound	ethylenediaminetetraacetic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:42191	"" []	554827	\N	\N	EFO	2	EFO	chemical entity	ethylenediaminetetraacetic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:42191	"" []	1137525	\N	\N	EFO	3	EFO	material entity	ethylenediaminetetraacetic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:42191	"" []	2020658	\N	\N	EFO	4	EFO	experimental factor	ethylenediaminetetraacetic acid
CHEBI:42471	\N	\N	"" []	CHEBI:42471	"" []	62490	\N	\N	EFO	0	EFO	forskolin	forskolin
CHEBI:37577	CHEBI:42471	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:42471	"" []	201922	\N	\N	EFO	1	EFO	chemical compound	forskolin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:42471	"" []	554828	\N	\N	EFO	2	EFO	chemical entity	forskolin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:42471	"" []	1137526	\N	\N	EFO	3	EFO	material entity	forskolin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:42471	"" []	2020659	\N	\N	EFO	4	EFO	experimental factor	forskolin
CHEBI:42491	\N	\N	"A member of the flavones that has formula C15H10O2." []	CHEBI:42491	"A member of the flavones that has formula C15H10O2." []	62491	\N	\N	EFO	0	EFO	flavone	flavone
CHEBI:37577	CHEBI:42491	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:42491	"A member of the flavones that has formula C15H10O2." []	201923	\N	\N	EFO	1	EFO	chemical compound	flavone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:42491	"A member of the flavones that has formula C15H10O2." []	554829	\N	\N	EFO	2	EFO	chemical entity	flavone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:42491	"A member of the flavones that has formula C15H10O2." []	1137527	\N	\N	EFO	3	EFO	material entity	flavone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:42491	"A member of the flavones that has formula C15H10O2." []	2020660	\N	\N	EFO	4	EFO	experimental factor	flavone
CHEBI:42549	\N	\N	"" []	CHEBI:42549	"" []	62492	\N	\N	EFO	0	EFO	3-(5-fluorouracil-1-yl)-L-alanine	3-(5-fluorouracil-1-yl)-L-alanine
CHEBI:37577	CHEBI:42549	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:42549	"" []	201924	\N	\N	EFO	1	EFO	chemical compound	3-(5-fluorouracil-1-yl)-L-alanine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:42549	"" []	554830	\N	\N	EFO	2	EFO	chemical entity	3-(5-fluorouracil-1-yl)-L-alanine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:42549	"" []	1137528	\N	\N	EFO	3	EFO	material entity	3-(5-fluorouracil-1-yl)-L-alanine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:42549	"" []	2020661	\N	\N	EFO	4	EFO	experimental factor	3-(5-fluorouracil-1-yl)-L-alanine
CHEBI:42567	\N	\N	"A tetrahydroxyflavone that has formula C15H10O6." []	CHEBI:42567	"A tetrahydroxyflavone that has formula C15H10O6." []	62493	\N	\N	EFO	0	EFO	fisetin	fisetin
CHEBI:37577	CHEBI:42567	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:42567	"A tetrahydroxyflavone that has formula C15H10O6." []	201925	\N	\N	EFO	1	EFO	chemical compound	fisetin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:42567	"A tetrahydroxyflavone that has formula C15H10O6." []	554831	\N	\N	EFO	2	EFO	chemical entity	fisetin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:42567	"A tetrahydroxyflavone that has formula C15H10O6." []	1137529	\N	\N	EFO	3	EFO	material entity	fisetin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:42567	"A tetrahydroxyflavone that has formula C15H10O6." []	2020662	\N	\N	EFO	4	EFO	experimental factor	fisetin
CHEBI:42588	\N	\N	"" []	CHEBI:42588	"" []	62494	\N	\N	EFO	0	EFO	4-hydroxyphenyl retinamide	4-hydroxyphenyl retinamide
CHEBI:23888	CHEBI:42588	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:42588	"" []	201926	\N	\N	EFO	1	EFO	drug	4-hydroxyphenyl retinamide
EFO:0004417	CHEBI:42588	\N	"" []	CHEBI:42588	"" []	201927	\N	\N	EFO	1	EFO	amide	4-hydroxyphenyl retinamide
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:42588	"" []	554832	\N	\N	EFO	2	EFO	chemical compound	4-hydroxyphenyl retinamide
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:42588	"" []	554833	\N	\N	EFO	2	EFO	chemical compound	4-hydroxyphenyl retinamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:42588	"" []	1137530	\N	\N	EFO	3	EFO	chemical entity	4-hydroxyphenyl retinamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:42588	"" []	2020663	\N	\N	EFO	4	EFO	material entity	4-hydroxyphenyl retinamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:42588	"" []	3175555	\N	\N	EFO	5	EFO	experimental factor	4-hydroxyphenyl retinamide
CHEBI:42638	\N	\N	"" []	CHEBI:42638	"" []	62495	\N	\N	EFO	0	EFO	flufenamic acid	flufenamic acid
CHEBI:23888	CHEBI:42638	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:42638	"" []	201928	\N	\N	EFO	1	EFO	drug	flufenamic acid
EFO:0004416	CHEBI:42638	\N	"" []	CHEBI:42638	"" []	201929	\N	\N	EFO	1	EFO	acid	flufenamic acid
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:42638	"" []	554834	\N	\N	EFO	2	EFO	chemical compound	flufenamic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:42638	"" []	554835	\N	\N	EFO	2	EFO	chemical compound	flufenamic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:42638	"" []	1137531	\N	\N	EFO	3	EFO	chemical entity	flufenamic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:42638	"" []	2020664	\N	\N	EFO	4	EFO	material entity	flufenamic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:42638	"" []	3175556	\N	\N	EFO	5	EFO	experimental factor	flufenamic acid
CHEBI:42839	\N	\N	"" []	CHEBI:42839	"" []	62496	\N	\N	EFO	0	EFO	3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine	3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine
CHEBI:37577	CHEBI:42839	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:42839	"" []	201930	\N	\N	EFO	1	EFO	chemical compound	3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:42839	"" []	554836	\N	\N	EFO	2	EFO	chemical entity	3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:42839	"" []	1137532	\N	\N	EFO	3	EFO	material entity	3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:42839	"" []	2020665	\N	\N	EFO	4	EFO	experimental factor	3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine
CHEBI:4315	\N	\N	"" []	CHEBI:4315	"" []	62497	\N	\N	EFO	0	EFO	danazol	danazol
CHEBI:37577	CHEBI:4315	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4315	"" []	201931	\N	\N	EFO	1	EFO	chemical compound	danazol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4315	"" []	554837	\N	\N	EFO	2	EFO	chemical entity	danazol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4315	"" []	1137533	\N	\N	EFO	3	EFO	material entity	danazol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4315	"" []	2020666	\N	\N	EFO	4	EFO	experimental factor	danazol
CHEBI:4317	\N	\N	"" []	CHEBI:4317	"" []	62498	\N	\N	EFO	0	EFO	dantrolene	dantrolene
CHEBI:37577	CHEBI:4317	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4317	"" []	201932	\N	\N	EFO	1	EFO	chemical compound	dantrolene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4317	"" []	554838	\N	\N	EFO	2	EFO	chemical entity	dantrolene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4317	"" []	1137534	\N	\N	EFO	3	EFO	material entity	dantrolene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4317	"" []	2020667	\N	\N	EFO	4	EFO	experimental factor	dantrolene
CHEBI:43415	\N	\N	"" []	CHEBI:43415	"" []	62499	\N	\N	EFO	0	EFO	dexibuprofen	dexibuprofen
CHEBI:37577	CHEBI:43415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:43415	"" []	201933	\N	\N	EFO	1	EFO	chemical compound	dexibuprofen
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:43415	"" []	554839	\N	\N	EFO	2	EFO	chemical entity	dexibuprofen
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:43415	"" []	1137535	\N	\N	EFO	3	EFO	material entity	dexibuprofen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:43415	"" []	2020668	\N	\N	EFO	4	EFO	experimental factor	dexibuprofen
CHEBI:4356	\N	\N	"" []	CHEBI:4356	"" []	62500	\N	\N	EFO	0	EFO	desferrioxamine B	desferrioxamine B
CHEBI:37577	CHEBI:4356	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4356	"" []	201934	\N	\N	EFO	1	EFO	chemical compound	desferrioxamine B
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4356	"" []	554840	\N	\N	EFO	2	EFO	chemical entity	desferrioxamine B
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4356	"" []	1137536	\N	\N	EFO	3	EFO	material entity	desferrioxamine B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4356	"" []	2020669	\N	\N	EFO	4	EFO	experimental factor	desferrioxamine B
CHEBI:43755	\N	\N	"A dipeptide that has formula C21H31N3O5." []	CHEBI:43755	"A dipeptide that has formula C21H31N3O5." []	62501	\N	\N	EFO	0	EFO	lisinopril	lisinopril
CHEBI:23888	CHEBI:43755	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:43755	"A dipeptide that has formula C21H31N3O5." []	201935	\N	\N	EFO	1	EFO	drug	lisinopril
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:43755	"A dipeptide that has formula C21H31N3O5." []	554841	\N	\N	EFO	2	EFO	chemical compound	lisinopril
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:43755	"A dipeptide that has formula C21H31N3O5." []	1137537	\N	\N	EFO	3	EFO	chemical entity	lisinopril
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:43755	"A dipeptide that has formula C21H31N3O5." []	2020670	\N	\N	EFO	4	EFO	material entity	lisinopril
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:43755	"A dipeptide that has formula C21H31N3O5." []	3175557	\N	\N	EFO	5	EFO	experimental factor	lisinopril
CHEBI:43876	\N	\N	"" []	CHEBI:43876	"" []	62502	\N	\N	EFO	0	EFO	(S)-alpha-methyl-4-carboxyphenylglycine	(S)-alpha-methyl-4-carboxyphenylglycine
CHEBI:37577	CHEBI:43876	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:43876	"" []	201936	\N	\N	EFO	1	EFO	chemical compound	(S)-alpha-methyl-4-carboxyphenylglycine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:43876	"" []	554842	\N	\N	EFO	2	EFO	chemical entity	(S)-alpha-methyl-4-carboxyphenylglycine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:43876	"" []	1137538	\N	\N	EFO	3	EFO	material entity	(S)-alpha-methyl-4-carboxyphenylglycine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:43876	"" []	2020671	\N	\N	EFO	4	EFO	experimental factor	(S)-alpha-methyl-4-carboxyphenylglycine
CHEBI:4393	\N	\N	"" []	CHEBI:4393	"" []	62503	\N	\N	EFO	0	EFO	(-)-demecolcine	(-)-demecolcine
CHEBI:23888	CHEBI:4393	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:4393	"" []	201937	\N	\N	EFO	1	EFO	drug	(-)-demecolcine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4393	"" []	554843	\N	\N	EFO	2	EFO	chemical compound	(-)-demecolcine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4393	"" []	1137539	\N	\N	EFO	3	EFO	chemical entity	(-)-demecolcine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4393	"" []	2020672	\N	\N	EFO	4	EFO	material entity	(-)-demecolcine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4393	"" []	3175558	\N	\N	EFO	5	EFO	experimental factor	(-)-demecolcine
CHEBI:44185	\N	\N	"A pteridine that has formula C20H22N8O5." []	CHEBI:44185	"A pteridine that has formula C20H22N8O5." []	62504	\N	\N	EFO	0	EFO	methotrexate	methotrexate
CHEBI:37577	CHEBI:44185	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:44185	"A pteridine that has formula C20H22N8O5." []	201938	\N	\N	EFO	1	EFO	chemical compound	methotrexate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:44185	"A pteridine that has formula C20H22N8O5." []	554844	\N	\N	EFO	2	EFO	chemical entity	methotrexate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:44185	"A pteridine that has formula C20H22N8O5." []	1137540	\N	\N	EFO	3	EFO	material entity	methotrexate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:44185	"A pteridine that has formula C20H22N8O5." []	2020673	\N	\N	EFO	4	EFO	experimental factor	methotrexate
CHEBI:44423	\N	\N	"An urea that has formula CH4N2O2." []	CHEBI:44423	"An urea that has formula CH4N2O2." []	62505	\N	\N	EFO	0	EFO	hydroxyurea	hydroxyurea
CHEBI:24431	CHEBI:44423	\N	"" []	CHEBI:44423	"An urea that has formula CH4N2O2." []	201939	\N	\N	EFO	1	EFO	chemical entity	hydroxyurea
CHEBI:37577	CHEBI:44423	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:44423	"An urea that has formula CH4N2O2." []	201940	\N	\N	EFO	1	EFO	chemical compound	hydroxyurea
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:44423	"An urea that has formula CH4N2O2." []	554845	\N	\N	EFO	2	EFO	chemical entity	hydroxyurea
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:44423	"An urea that has formula CH4N2O2." []	1137541	\N	\N	EFO	3	EFO	material entity	hydroxyurea
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:44423	"An urea that has formula CH4N2O2." []	2020674	\N	\N	EFO	4	EFO	experimental factor	hydroxyurea
CHEBI:44445	\N	\N	"" []	CHEBI:44445	"" []	62506	\N	\N	EFO	0	EFO	nimesulide	nimesulide
CHEBI:37577	CHEBI:44445	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:44445	"" []	201941	\N	\N	EFO	1	EFO	chemical compound	nimesulide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:44445	"" []	554846	\N	\N	EFO	2	EFO	chemical entity	nimesulide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:44445	"" []	1137542	\N	\N	EFO	3	EFO	material entity	nimesulide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:44445	"" []	2020675	\N	\N	EFO	4	EFO	experimental factor	nimesulide
CHEBI:44526	\N	\N	"\\"An octadeca-10,12-dienoic acid having 10-trans,12-cis-configuration.\\" []" []	CHEBI:44526	"\\"An octadeca-10,12-dienoic acid having 10-trans,12-cis-configuration.\\" []" []	62507	\N	\N	EFO	0	EFO	10-trans,12-cis-octadecadienoic acid	10-trans,12-cis-octadecadienoic acid
EFO:0004416	CHEBI:44526	\N	"" []	CHEBI:44526	"\\"An octadeca-10,12-dienoic acid having 10-trans,12-cis-configuration.\\" []" []	201942	\N	\N	EFO	1	EFO	acid	10-trans,12-cis-octadecadienoic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:44526	"\\"An octadeca-10,12-dienoic acid having 10-trans,12-cis-configuration.\\" []" []	554847	\N	\N	EFO	2	EFO	chemical compound	10-trans,12-cis-octadecadienoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:44526	"\\"An octadeca-10,12-dienoic acid having 10-trans,12-cis-configuration.\\" []" []	1137543	\N	\N	EFO	3	EFO	chemical entity	10-trans,12-cis-octadecadienoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:44526	"\\"An octadeca-10,12-dienoic acid having 10-trans,12-cis-configuration.\\" []" []	2020676	\N	\N	EFO	4	EFO	material entity	10-trans,12-cis-octadecadienoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:44526	"\\"An octadeca-10,12-dienoic acid having 10-trans,12-cis-configuration.\\" []" []	3175559	\N	\N	EFO	5	EFO	experimental factor	10-trans,12-cis-octadecadienoic acid
CHEBI:44616	\N	\N	"" []	CHEBI:44616	"" []	62508	\N	\N	EFO	0	EFO	afimoxifene	afimoxifene
CHEBI:23888	CHEBI:44616	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:44616	"" []	201943	\N	\N	EFO	1	EFO	drug	afimoxifene
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:44616	"" []	554848	\N	\N	EFO	2	EFO	chemical compound	afimoxifene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:44616	"" []	1137544	\N	\N	EFO	3	EFO	chemical entity	afimoxifene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:44616	"" []	2020677	\N	\N	EFO	4	EFO	material entity	afimoxifene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:44616	"" []	3175560	\N	\N	EFO	5	EFO	experimental factor	afimoxifene
CHEBI:44915	\N	\N	"A phenol that has formula C12H18O." []	CHEBI:44915	"A phenol that has formula C12H18O." []	62509	\N	\N	EFO	0	EFO	propofol	propofol
CHEBI:23888	CHEBI:44915	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:44915	"A phenol that has formula C12H18O." []	201944	\N	\N	EFO	1	EFO	drug	propofol
CHEBI:59219	CHEBI:44915	\N	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	CHEBI:44915	"A phenol that has formula C12H18O." []	201945	\N	\N	EFO	1	EFO	caerulein	propofol
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:44915	"A phenol that has formula C12H18O." []	554849	\N	\N	EFO	2	EFO	chemical compound	propofol
CHEBI:37577	CHEBI:59219	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:44915	"A phenol that has formula C12H18O." []	554850	\N	\N	EFO	2	EFO	chemical compound	propofol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:44915	"A phenol that has formula C12H18O." []	1137545	\N	\N	EFO	3	EFO	chemical entity	propofol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:44915	"A phenol that has formula C12H18O." []	2020678	\N	\N	EFO	4	EFO	material entity	propofol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:44915	"A phenol that has formula C12H18O." []	3175561	\N	\N	EFO	5	EFO	experimental factor	propofol
CHEBI:44975	\N	\N	"A phenanthroline that has formula C12H8N2." []	CHEBI:44975	"A phenanthroline that has formula C12H8N2." []	62510	\N	\N	EFO	0	EFO	1,10-phenanthroline	1,10-phenanthroline
CHEBI:37577	CHEBI:44975	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:44975	"A phenanthroline that has formula C12H8N2." []	201946	\N	\N	EFO	1	EFO	chemical compound	1,10-phenanthroline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:44975	"A phenanthroline that has formula C12H8N2." []	554851	\N	\N	EFO	2	EFO	chemical entity	1,10-phenanthroline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:44975	"A phenanthroline that has formula C12H8N2." []	1137546	\N	\N	EFO	3	EFO	material entity	1,10-phenanthroline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:44975	"A phenanthroline that has formula C12H8N2." []	2020679	\N	\N	EFO	4	EFO	experimental factor	1,10-phenanthroline
CHEBI:45081	\N	\N	"" []	CHEBI:45081	"" []	62511	\N	\N	EFO	0	EFO	pentamidine	pentamidine
CHEBI:23888	CHEBI:45081	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:45081	"" []	201947	\N	\N	EFO	1	EFO	drug	pentamidine
EFO:0004417	CHEBI:45081	\N	"" []	CHEBI:45081	"" []	201948	\N	\N	EFO	1	EFO	amide	pentamidine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:45081	"" []	554852	\N	\N	EFO	2	EFO	chemical compound	pentamidine
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:45081	"" []	554853	\N	\N	EFO	2	EFO	chemical compound	pentamidine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:45081	"" []	1137547	\N	\N	EFO	3	EFO	chemical entity	pentamidine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:45081	"" []	2020680	\N	\N	EFO	4	EFO	material entity	pentamidine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:45081	"" []	3175562	\N	\N	EFO	5	EFO	experimental factor	pentamidine
CHEBI:4509	\N	\N	"The sodium salt of diclofenac." []	CHEBI:4509	"The sodium salt of diclofenac." []	62512	\N	\N	EFO	0	EFO	diclofenac sodium	diclofenac sodium
CHEBI:23888	CHEBI:4509	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:4509	"The sodium salt of diclofenac." []	201949	\N	\N	EFO	1	EFO	drug	diclofenac sodium
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4509	"The sodium salt of diclofenac." []	554854	\N	\N	EFO	2	EFO	chemical compound	diclofenac sodium
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4509	"The sodium salt of diclofenac." []	1137548	\N	\N	EFO	3	EFO	chemical entity	diclofenac sodium
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4509	"The sodium salt of diclofenac." []	2020681	\N	\N	EFO	4	EFO	material entity	diclofenac sodium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4509	"The sodium salt of diclofenac." []	3175563	\N	\N	EFO	5	EFO	experimental factor	diclofenac sodium
CHEBI:45267	\N	\N	"" []	CHEBI:45267	"" []	62513	\N	\N	EFO	0	EFO	praziquantel	praziquantel
CHEBI:37577	CHEBI:45267	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:45267	"" []	201950	\N	\N	EFO	1	EFO	chemical compound	praziquantel
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:45267	"" []	554855	\N	\N	EFO	2	EFO	chemical entity	praziquantel
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:45267	"" []	1137549	\N	\N	EFO	3	EFO	material entity	praziquantel
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:45267	"" []	2020682	\N	\N	EFO	4	EFO	experimental factor	praziquantel
CHEBI:45783	\N	\N	"A N-methylpiperazine that has formula C29H31N7O." []	CHEBI:45783	"A N-methylpiperazine that has formula C29H31N7O." []	62514	\N	\N	EFO	0	EFO	imatinib	imatinib
CHEBI:37577	CHEBI:45783	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:45783	"A N-methylpiperazine that has formula C29H31N7O." []	201951	\N	\N	EFO	1	EFO	chemical compound	imatinib
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:45783	"A N-methylpiperazine that has formula C29H31N7O." []	554856	\N	\N	EFO	2	EFO	chemical entity	imatinib
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:45783	"A N-methylpiperazine that has formula C29H31N7O." []	1137550	\N	\N	EFO	3	EFO	material entity	imatinib
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:45783	"A N-methylpiperazine that has formula C29H31N7O." []	2020683	\N	\N	EFO	4	EFO	experimental factor	imatinib
CHEBI:45863	\N	\N	"" []	CHEBI:45863	"" []	62515	\N	\N	EFO	0	EFO	paclitaxel	paclitaxel
CHEBI:23888	CHEBI:45863	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:45863	"" []	201952	\N	\N	EFO	1	EFO	drug	paclitaxel
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:45863	"" []	554857	\N	\N	EFO	2	EFO	chemical compound	paclitaxel
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:45863	"" []	1137551	\N	\N	EFO	3	EFO	chemical entity	paclitaxel
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:45863	"" []	2020684	\N	\N	EFO	4	EFO	material entity	paclitaxel
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:45863	"" []	3175564	\N	\N	EFO	5	EFO	experimental factor	paclitaxel
CHEBI:45951	\N	\N	"" []	CHEBI:45951	"" []	62516	\N	\N	EFO	0	EFO	trifluoperazine	trifluoperazine
CHEBI:23888	CHEBI:45951	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:45951	"" []	201953	\N	\N	EFO	1	EFO	drug	trifluoperazine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:45951	"" []	554858	\N	\N	EFO	2	EFO	chemical compound	trifluoperazine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:45951	"" []	1137552	\N	\N	EFO	3	EFO	chemical entity	trifluoperazine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:45951	"" []	2020685	\N	\N	EFO	4	EFO	material entity	trifluoperazine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:45951	"" []	3175565	\N	\N	EFO	5	EFO	experimental factor	trifluoperazine
CHEBI:45980	\N	\N	"\\"An aromatic amine that has formula C13H14N2.\\" []" []	CHEBI:45980	"\\"An aromatic amine that has formula C13H14N2.\\" []" []	62517	\N	\N	EFO	0	EFO	tacrine	tacrine
CHEBI:23888	CHEBI:45980	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:45980	"\\"An aromatic amine that has formula C13H14N2.\\" []" []	201954	\N	\N	EFO	1	EFO	drug	tacrine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:45980	"\\"An aromatic amine that has formula C13H14N2.\\" []" []	554859	\N	\N	EFO	2	EFO	chemical compound	tacrine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:45980	"\\"An aromatic amine that has formula C13H14N2.\\" []" []	1137553	\N	\N	EFO	3	EFO	chemical entity	tacrine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:45980	"\\"An aromatic amine that has formula C13H14N2.\\" []" []	2020686	\N	\N	EFO	4	EFO	material entity	tacrine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:45980	"\\"An aromatic amine that has formula C13H14N2.\\" []" []	3175566	\N	\N	EFO	5	EFO	experimental factor	tacrine
CHEBI:46024	\N	\N	"A trichostatin that has formula C17H22N2O3." []	CHEBI:46024	"A trichostatin that has formula C17H22N2O3." []	62518	\N	\N	EFO	0	EFO	trichostatin A	trichostatin A
CHEBI:24431	CHEBI:46024	\N	"" []	CHEBI:46024	"A trichostatin that has formula C17H22N2O3." []	201955	\N	\N	EFO	1	EFO	chemical entity	trichostatin A
CHEBI:37577	CHEBI:46024	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:46024	"A trichostatin that has formula C17H22N2O3." []	201956	\N	\N	EFO	1	EFO	chemical compound	trichostatin A
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:46024	"A trichostatin that has formula C17H22N2O3." []	554860	\N	\N	EFO	2	EFO	chemical entity	trichostatin A
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:46024	"A trichostatin that has formula C17H22N2O3." []	1137554	\N	\N	EFO	3	EFO	material entity	trichostatin A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:46024	"A trichostatin that has formula C17H22N2O3." []	2020687	\N	\N	EFO	4	EFO	experimental factor	trichostatin A
CHEBI:46053	\N	\N	"" []	CHEBI:46053	"" []	62519	\N	\N	EFO	0	EFO	2,4,6-trinitrotoluene	2,4,6-trinitrotoluene
CHEBI:37577	CHEBI:46053	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:46053	"" []	201957	\N	\N	EFO	1	EFO	chemical compound	2,4,6-trinitrotoluene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:46053	"" []	554861	\N	\N	EFO	2	EFO	chemical entity	2,4,6-trinitrotoluene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:46053	"" []	1137555	\N	\N	EFO	3	EFO	material entity	2,4,6-trinitrotoluene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:46053	"" []	2020688	\N	\N	EFO	4	EFO	experimental factor	2,4,6-trinitrotoluene
CHEBI:46081	\N	\N	"A triazole that has formula C13H12F2N6O." []	CHEBI:46081	"A triazole that has formula C13H12F2N6O." []	62520	\N	\N	EFO	0	EFO	fluconazole	fluconazole
CHEBI:23888	CHEBI:46081	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:46081	"A triazole that has formula C13H12F2N6O." []	201958	\N	\N	EFO	1	EFO	drug	fluconazole
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:46081	"A triazole that has formula C13H12F2N6O." []	554862	\N	\N	EFO	2	EFO	chemical compound	fluconazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:46081	"A triazole that has formula C13H12F2N6O." []	1137556	\N	\N	EFO	3	EFO	chemical entity	fluconazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:46081	"A triazole that has formula C13H12F2N6O." []	2020689	\N	\N	EFO	4	EFO	material entity	fluconazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:46081	"A triazole that has formula C13H12F2N6O." []	3175567	\N	\N	EFO	5	EFO	experimental factor	fluconazole
CHEBI:46195	\N	\N	"" []	CHEBI:46195	"" []	62521	\N	\N	EFO	0	EFO	paracetamol	paracetamol
CHEBI:23888	CHEBI:46195	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:46195	"" []	201959	\N	\N	EFO	1	EFO	drug	paracetamol
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:46195	"" []	554863	\N	\N	EFO	2	EFO	chemical compound	paracetamol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:46195	"" []	1137557	\N	\N	EFO	3	EFO	chemical entity	paracetamol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:46195	"" []	2020690	\N	\N	EFO	4	EFO	material entity	paracetamol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:46195	"" []	3175568	\N	\N	EFO	5	EFO	experimental factor	paracetamol
CHEBI:46345	\N	\N	"" []	CHEBI:46345	"" []	62522	\N	\N	EFO	0	EFO	5-fluorouracil	5-fluorouracil
CHEBI:23888	CHEBI:46345	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:46345	"" []	201960	\N	\N	EFO	1	EFO	drug	5-fluorouracil
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:46345	"" []	554864	\N	\N	EFO	2	EFO	chemical compound	5-fluorouracil
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:46345	"" []	1137558	\N	\N	EFO	3	EFO	chemical entity	5-fluorouracil
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:46345	"" []	2020691	\N	\N	EFO	4	EFO	material entity	5-fluorouracil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:46345	"" []	3175569	\N	\N	EFO	5	EFO	experimental factor	5-fluorouracil
CHEBI:46548	\N	\N	"" []	CHEBI:46548	"" []	62523	\N	\N	EFO	0	EFO	zardaverine	zardaverine
CHEBI:23888	CHEBI:46548	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:46548	"" []	201961	\N	\N	EFO	1	EFO	drug	zardaverine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:46548	"" []	554865	\N	\N	EFO	2	EFO	chemical compound	zardaverine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:46548	"" []	1137559	\N	\N	EFO	3	EFO	chemical entity	zardaverine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:46548	"" []	2020692	\N	\N	EFO	4	EFO	material entity	zardaverine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:46548	"" []	3175570	\N	\N	EFO	5	EFO	experimental factor	zardaverine
CHEBI:4657	\N	\N	"" []	CHEBI:4657	"" []	62524	\N	\N	EFO	0	EFO	disopyramide	disopyramide
CHEBI:37577	CHEBI:4657	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4657	"" []	201962	\N	\N	EFO	1	EFO	chemical compound	disopyramide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4657	"" []	554866	\N	\N	EFO	2	EFO	chemical entity	disopyramide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4657	"" []	1137560	\N	\N	EFO	3	EFO	material entity	disopyramide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4657	"" []	2020693	\N	\N	EFO	4	EFO	experimental factor	disopyramide
CHEBI:4659	\N	\N	"" []	CHEBI:4659	"" []	62525	\N	\N	EFO	0	EFO	disulfiram	disulfiram
CHEBI:37577	CHEBI:4659	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4659	"" []	201963	\N	\N	EFO	1	EFO	chemical compound	disulfiram
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4659	"" []	554867	\N	\N	EFO	2	EFO	chemical entity	disulfiram
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4659	"" []	1137561	\N	\N	EFO	3	EFO	material entity	disulfiram
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4659	"" []	2020694	\N	\N	EFO	4	EFO	experimental factor	disulfiram
CHEBI:46661	\N	\N	"Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements." []	CHEBI:46661	"Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements." []	62526	\N	\N	EFO	0	EFO	asbestos	asbestos
CHEBI:37577	CHEBI:46661	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:46661	"Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements." []	201964	\N	\N	EFO	1	EFO	chemical compound	asbestos
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:46661	"Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements." []	554868	\N	\N	EFO	2	EFO	chemical entity	asbestos
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:46661	"Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements." []	1137562	\N	\N	EFO	3	EFO	material entity	asbestos
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:46661	"Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements." []	2020695	\N	\N	EFO	4	EFO	experimental factor	asbestos
CHEBI:46793	\N	\N	"A polymer composed of repeating ethyleneoxy units." []	CHEBI:46793	"A polymer composed of repeating ethyleneoxy units." []	62527	\N	\N	EFO	0	EFO	polyethylene glycol	polyethylene glycol
CHEBI:37577	CHEBI:46793	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:46793	"A polymer composed of repeating ethyleneoxy units." []	201965	\N	\N	EFO	1	EFO	chemical compound	polyethylene glycol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:46793	"A polymer composed of repeating ethyleneoxy units." []	554869	\N	\N	EFO	2	EFO	chemical entity	polyethylene glycol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:46793	"A polymer composed of repeating ethyleneoxy units." []	1137563	\N	\N	EFO	3	EFO	material entity	polyethylene glycol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:46793	"A polymer composed of repeating ethyleneoxy units." []	2020696	\N	\N	EFO	4	EFO	experimental factor	polyethylene glycol
CHEBI:46859	\N	\N	"" []	CHEBI:46859	"" []	62528	\N	\N	EFO	0	EFO	polidocanol	polidocanol
CHEBI:37577	CHEBI:46859	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:46859	"" []	201966	\N	\N	EFO	1	EFO	chemical compound	polidocanol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:46859	"" []	554870	\N	\N	EFO	2	EFO	chemical entity	polidocanol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:46859	"" []	1137564	\N	\N	EFO	3	EFO	material entity	polidocanol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:46859	"" []	2020697	\N	\N	EFO	4	EFO	experimental factor	polidocanol
CHEBI:46889	\N	\N	"A diacyl lipopeptide that has formula C65H126N10O12S." []	CHEBI:46889	"A diacyl lipopeptide that has formula C65H126N10O12S." []	62529	\N	\N	EFO	0	EFO	S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys	S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys
CHEBI:37577	CHEBI:46889	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:46889	"A diacyl lipopeptide that has formula C65H126N10O12S." []	201967	\N	\N	EFO	1	EFO	chemical compound	S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:46889	"A diacyl lipopeptide that has formula C65H126N10O12S." []	554871	\N	\N	EFO	2	EFO	chemical entity	S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:46889	"A diacyl lipopeptide that has formula C65H126N10O12S." []	1137565	\N	\N	EFO	3	EFO	material entity	S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:46889	"A diacyl lipopeptide that has formula C65H126N10O12S." []	2020698	\N	\N	EFO	4	EFO	experimental factor	S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys
CHEBI:46938	\N	\N	"A pyrimidine ribonucleoside that has formula C9H12N2O5." []	CHEBI:46938	"A pyrimidine ribonucleoside that has formula C9H12N2O5." []	62530	\N	\N	EFO	0	EFO	zebularine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	zebularine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:24431	CHEBI:46938	\N	"" []	CHEBI:46938	"A pyrimidine ribonucleoside that has formula C9H12N2O5." []	201968	\N	\N	EFO	1	EFO	chemical entity	zebularine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:46938	"A pyrimidine ribonucleoside that has formula C9H12N2O5." []	554872	\N	\N	EFO	2	EFO	material entity	zebularine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:46938	"A pyrimidine ribonucleoside that has formula C9H12N2O5." []	1137566	\N	\N	EFO	3	EFO	experimental factor	zebularine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:47032	\N	\N	"The determination of the amount of complement C4 present in a sample." []	CHEBI:47032	"The determination of the amount of complement C4 present in a sample." []	62531	\N	\N	EFO	0	EFO	1-4-dioxane	1-4-dioxane
CHEBI:37577	CHEBI:47032	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:47032	"The determination of the amount of complement C4 present in a sample." []	201969	\N	\N	EFO	1	EFO	chemical compound	1-4-dioxane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:47032	"The determination of the amount of complement C4 present in a sample." []	554873	\N	\N	EFO	2	EFO	chemical entity	1-4-dioxane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:47032	"The determination of the amount of complement C4 present in a sample." []	1137567	\N	\N	EFO	3	EFO	material entity	1-4-dioxane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:47032	"The determination of the amount of complement C4 present in a sample." []	2020699	\N	\N	EFO	4	EFO	experimental factor	1-4-dioxane
CHEBI:47381	\N	\N	"A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt." []	CHEBI:47381	"A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt." []	62532	\N	\N	EFO	0	EFO	diclofenac	diclofenac
CHEBI:23888	CHEBI:47381	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:47381	"A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt." []	201970	\N	\N	EFO	1	EFO	drug	diclofenac
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:47381	"A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt." []	554874	\N	\N	EFO	2	EFO	chemical compound	diclofenac
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:47381	"A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt." []	1137568	\N	\N	EFO	3	EFO	chemical entity	diclofenac
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:47381	"A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt." []	2020700	\N	\N	EFO	4	EFO	material entity	diclofenac
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:47381	"A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt." []	3175571	\N	\N	EFO	5	EFO	experimental factor	diclofenac
CHEBI:474053	\N	\N	"A cephalosporin compound having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and (1H-tetrazol-1-ylacetyl)amino side groups." []	CHEBI:474053	"A cephalosporin compound having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and (1H-tetrazol-1-ylacetyl)amino side groups." []	62533	\N	\N	EFO	0	EFO	cefazolin	cefazolin
CHEBI:37577	CHEBI:474053	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:474053	"A cephalosporin compound having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and (1H-tetrazol-1-ylacetyl)amino side groups." []	201971	\N	\N	EFO	1	EFO	chemical compound	cefazolin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:474053	"A cephalosporin compound having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and (1H-tetrazol-1-ylacetyl)amino side groups." []	554875	\N	\N	EFO	2	EFO	chemical entity	cefazolin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:474053	"A cephalosporin compound having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and (1H-tetrazol-1-ylacetyl)amino side groups." []	1137569	\N	\N	EFO	3	EFO	material entity	cefazolin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:474053	"A cephalosporin compound having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and (1H-tetrazol-1-ylacetyl)amino side groups." []	2020701	\N	\N	EFO	4	EFO	experimental factor	cefazolin
CHEBI:474180	\N	\N	"A semisynthetic cyclic hexapeptide echinocandin antibiotic which exerts its effect by inhibiting the synthesis of 1,3-beta-D-glucan, an integral component of the fungal cell wall." []	CHEBI:474180	"A semisynthetic cyclic hexapeptide echinocandin antibiotic which exerts its effect by inhibiting the synthesis of 1,3-beta-D-glucan, an integral component of the fungal cell wall." []	62534	\N	\N	EFO	0	EFO	caspofungin	caspofungin
CHEBI:37577	CHEBI:474180	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:474180	"A semisynthetic cyclic hexapeptide echinocandin antibiotic which exerts its effect by inhibiting the synthesis of 1,3-beta-D-glucan, an integral component of the fungal cell wall." []	201972	\N	\N	EFO	1	EFO	chemical compound	caspofungin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:474180	"A semisynthetic cyclic hexapeptide echinocandin antibiotic which exerts its effect by inhibiting the synthesis of 1,3-beta-D-glucan, an integral component of the fungal cell wall." []	554876	\N	\N	EFO	2	EFO	chemical entity	caspofungin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:474180	"A semisynthetic cyclic hexapeptide echinocandin antibiotic which exerts its effect by inhibiting the synthesis of 1,3-beta-D-glucan, an integral component of the fungal cell wall." []	1137570	\N	\N	EFO	3	EFO	material entity	caspofungin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:474180	"A semisynthetic cyclic hexapeptide echinocandin antibiotic which exerts its effect by inhibiting the synthesis of 1,3-beta-D-glucan, an integral component of the fungal cell wall." []	2020702	\N	\N	EFO	4	EFO	experimental factor	caspofungin
CHEBI:47426	\N	\N	"" []	CHEBI:47426	"" []	62535	\N	\N	EFO	0	EFO	furosemide	furosemide
CHEBI:37577	CHEBI:47426	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:47426	"" []	201973	\N	\N	EFO	1	EFO	chemical compound	furosemide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:47426	"" []	554877	\N	\N	EFO	2	EFO	chemical entity	furosemide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:47426	"" []	1137571	\N	\N	EFO	3	EFO	material entity	furosemide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:47426	"" []	2020703	\N	\N	EFO	4	EFO	experimental factor	furosemide
CHEBI:47499	\N	\N	"" []	CHEBI:47499	"" []	62536	\N	\N	EFO	0	EFO	imipramine	imipramine
CHEBI:37577	CHEBI:47499	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:47499	"" []	201974	\N	\N	EFO	1	EFO	chemical compound	imipramine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:47499	"" []	554878	\N	\N	EFO	2	EFO	chemical entity	imipramine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:47499	"" []	1137572	\N	\N	EFO	3	EFO	material entity	imipramine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:47499	"" []	2020704	\N	\N	EFO	4	EFO	experimental factor	imipramine
CHEBI:47519	\N	\N	"" []	CHEBI:47519	"" []	62537	\N	\N	EFO	0	EFO	cis-ketoconazole	cis-ketoconazole
CHEBI:37577	CHEBI:47519	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:47519	"" []	201975	\N	\N	EFO	1	EFO	chemical compound	cis-ketoconazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:47519	"" []	554879	\N	\N	EFO	2	EFO	chemical entity	cis-ketoconazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:47519	"" []	1137573	\N	\N	EFO	3	EFO	material entity	cis-ketoconazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:47519	"" []	2020705	\N	\N	EFO	4	EFO	experimental factor	cis-ketoconazole
CHEBI:47612	\N	\N	"" []	CHEBI:47612	"" []	62538	\N	\N	EFO	0	EFO	bezafibrate	bezafibrate
CHEBI:37577	CHEBI:47612	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:47612	"" []	201976	\N	\N	EFO	1	EFO	chemical compound	bezafibrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:47612	"" []	554880	\N	\N	EFO	2	EFO	chemical entity	bezafibrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:47612	"" []	1137574	\N	\N	EFO	3	EFO	material entity	bezafibrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:47612	"" []	2020706	\N	\N	EFO	4	EFO	experimental factor	bezafibrate
CHEBI:47775	\N	\N	"Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol." []	CHEBI:47775	"Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol." []	62539	\N	\N	EFO	0	EFO	HDL cholesterol	HDL cholesterol
CHEBI:16113	CHEBI:47775	\N	"The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils." []	CHEBI:47775	"Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol." []	201977	\N	\N	EFO	1	EFO	cholesterol	HDL cholesterol
EFO:0003836	CHEBI:16113	\N	"Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes." []	CHEBI:47775	"Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol." []	554881	\N	\N	EFO	2	EFO	lipoprotein	HDL cholesterol
CHEBI:36080	EFO:0003836	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	CHEBI:47775	"Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol." []	1137575	\N	\N	EFO	3	EFO	protein	HDL cholesterol
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:47775	"Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol." []	2020707	\N	\N	EFO	4	EFO	chemical compound	HDL cholesterol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:47775	"Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol." []	3175572	\N	\N	EFO	5	EFO	chemical entity	HDL cholesterol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:47775	"Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol." []	4386542	\N	\N	EFO	6	EFO	material entity	HDL cholesterol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:47775	"Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol." []	5407762	\N	\N	EFO	7	EFO	experimental factor	HDL cholesterol
CHEBI:47780	\N	\N	"" []	CHEBI:47780	"" []	62540	\N	\N	EFO	0	EFO	clomipramine	clomipramine
CHEBI:37577	CHEBI:47780	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:47780	"" []	201978	\N	\N	EFO	1	EFO	chemical compound	clomipramine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:47780	"" []	554882	\N	\N	EFO	2	EFO	chemical entity	clomipramine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:47780	"" []	1137576	\N	\N	EFO	3	EFO	material entity	clomipramine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:47780	"" []	2020708	\N	\N	EFO	4	EFO	experimental factor	clomipramine
CHEBI:47804	\N	\N	"" []	CHEBI:47804	"" []	62541	\N	\N	EFO	0	EFO	dibenzazepines	dibenzazepines
CHEBI:23888	CHEBI:47804	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:47804	"" []	201979	\N	\N	EFO	1	EFO	drug	dibenzazepines
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:47804	"" []	554883	\N	\N	EFO	2	EFO	chemical compound	dibenzazepines
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:47804	"" []	1137577	\N	\N	EFO	3	EFO	chemical entity	dibenzazepines
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:47804	"" []	2020709	\N	\N	EFO	4	EFO	material entity	dibenzazepines
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:47804	"" []	3175573	\N	\N	EFO	5	EFO	experimental factor	dibenzazepines
CHEBI:47807	\N	\N	"A sulfoxide that has formula C6H11NOS2." []	CHEBI:47807	"A sulfoxide that has formula C6H11NOS2." []	62542	\N	\N	EFO	0	EFO	sulforaphane	sulforaphane
CHEBI:37577	CHEBI:47807	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:47807	"A sulfoxide that has formula C6H11NOS2." []	201980	\N	\N	EFO	1	EFO	chemical compound	sulforaphane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:47807	"A sulfoxide that has formula C6H11NOS2." []	554884	\N	\N	EFO	2	EFO	chemical entity	sulforaphane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:47807	"A sulfoxide that has formula C6H11NOS2." []	1137578	\N	\N	EFO	3	EFO	material entity	sulforaphane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:47807	"A sulfoxide that has formula C6H11NOS2." []	2020710	\N	\N	EFO	4	EFO	experimental factor	sulforaphane
CHEBI:4784	\N	\N	"" []	CHEBI:4784	"" []	62543	\N	\N	EFO	0	EFO	enalapril	enalapril
CHEBI:37577	CHEBI:4784	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4784	"" []	201981	\N	\N	EFO	1	EFO	chemical compound	enalapril
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4784	"" []	554885	\N	\N	EFO	2	EFO	chemical entity	enalapril
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4784	"" []	1137579	\N	\N	EFO	3	EFO	material entity	enalapril
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4784	"" []	2020711	\N	\N	EFO	4	EFO	experimental factor	enalapril
CHEBI:48028	\N	\N	"" []	CHEBI:48028	"" []	62544	\N	\N	EFO	0	EFO	HC toxin	HC toxin
CHEBI:37577	CHEBI:48028	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:48028	"" []	201982	\N	\N	EFO	1	EFO	chemical compound	HC toxin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:48028	"" []	554886	\N	\N	EFO	2	EFO	chemical entity	HC toxin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:48028	"" []	1137580	\N	\N	EFO	3	EFO	material entity	HC toxin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48028	"" []	2020712	\N	\N	EFO	4	EFO	experimental factor	HC toxin
CHEBI:4806	\N	\N	"" []	CHEBI:4806	"" []	62545	\N	\N	EFO	0	EFO	epigallocatechin gallate	epigallocatechin gallate
CHEBI:23888	CHEBI:4806	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:4806	"" []	201983	\N	\N	EFO	1	EFO	drug	epigallocatechin gallate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4806	"" []	554887	\N	\N	EFO	2	EFO	chemical compound	epigallocatechin gallate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4806	"" []	1137581	\N	\N	EFO	3	EFO	chemical entity	epigallocatechin gallate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4806	"" []	2020713	\N	\N	EFO	4	EFO	material entity	epigallocatechin gallate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4806	"" []	3175574	\N	\N	EFO	5	EFO	experimental factor	epigallocatechin gallate
CHEBI:48218	\N	\N	"" []	CHEBI:48218	"" []	62546	\N	\N	EFO	0	EFO	antiseptic drug	antiseptic drug
EFO:0001899	CHEBI:48218	\N	"" []	CHEBI:48218	"" []	201984	\N	\N	EFO	1	EFO	drug role	antiseptic drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:48218	"" []	554888	\N	\N	EFO	2	EFO	chemical role	antiseptic drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:48218	"" []	1137582	\N	\N	EFO	3	EFO	role	antiseptic drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:48218	"" []	2020714	\N	\N	EFO	4	EFO	material property	antiseptic drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48218	"" []	3175575	\N	\N	EFO	5	EFO	experimental factor	antiseptic drug
CHEBI:48236	\N	\N	"" []	CHEBI:48236	"" []	62547	\N	\N	EFO	0	EFO	trichlorofluoromethane	trichlorofluoromethane
CHEBI:37577	CHEBI:48236	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:48236	"" []	201985	\N	\N	EFO	1	EFO	chemical compound	trichlorofluoromethane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:48236	"" []	554889	\N	\N	EFO	2	EFO	chemical entity	trichlorofluoromethane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:48236	"" []	1137583	\N	\N	EFO	3	EFO	material entity	trichlorofluoromethane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48236	"" []	2020715	\N	\N	EFO	4	EFO	experimental factor	trichlorofluoromethane
CHEBI:48278	\N	\N	"" []	CHEBI:48278	"" []	62548	\N	\N	EFO	0	EFO	serotonergic drug	serotonergic drug
EFO:0001899	CHEBI:48278	\N	"" []	CHEBI:48278	"" []	201986	\N	\N	EFO	1	EFO	drug role	serotonergic drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:48278	"" []	554890	\N	\N	EFO	2	EFO	chemical role	serotonergic drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:48278	"" []	1137584	\N	\N	EFO	3	EFO	role	serotonergic drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:48278	"" []	2020716	\N	\N	EFO	4	EFO	material property	serotonergic drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48278	"" []	3175576	\N	\N	EFO	5	EFO	experimental factor	serotonergic drug
CHEBI:48279	\N	\N	"Drugs that bind to but do not activate serotonin receptors, thereby blocking the actions of serotonin or serotonergic agonists." []	CHEBI:48279	"Drugs that bind to but do not activate serotonin receptors, thereby blocking the actions of serotonin or serotonergic agonists." []	62549	\N	\N	EFO	0	EFO	serotonergic antagonist	serotonergic antagonist
EFO:0001899	CHEBI:48279	\N	"" []	CHEBI:48279	"Drugs that bind to but do not activate serotonin receptors, thereby blocking the actions of serotonin or serotonergic agonists." []	201987	\N	\N	EFO	1	EFO	drug role	serotonergic antagonist
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:48279	"Drugs that bind to but do not activate serotonin receptors, thereby blocking the actions of serotonin or serotonergic agonists." []	554891	\N	\N	EFO	2	EFO	chemical role	serotonergic antagonist
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:48279	"Drugs that bind to but do not activate serotonin receptors, thereby blocking the actions of serotonin or serotonergic agonists." []	1137585	\N	\N	EFO	3	EFO	role	serotonergic antagonist
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:48279	"Drugs that bind to but do not activate serotonin receptors, thereby blocking the actions of serotonin or serotonergic agonists." []	2020717	\N	\N	EFO	4	EFO	material property	serotonergic antagonist
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48279	"Drugs that bind to but do not activate serotonin receptors, thereby blocking the actions of serotonin or serotonergic agonists." []	3175577	\N	\N	EFO	5	EFO	experimental factor	serotonergic antagonist
CHEBI:48354	\N	\N	"" []	CHEBI:48354	"" []	62550	\N	\N	EFO	0	EFO	polar solvent role	polar solvent role
CHEBI:51086	CHEBI:48354	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:48354	"" []	201988	\N	\N	EFO	1	EFO	chemical role	polar solvent role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:48354	"" []	554892	\N	\N	EFO	2	EFO	role	polar solvent role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:48354	"" []	1137586	\N	\N	EFO	3	EFO	material property	polar solvent role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48354	"" []	2020718	\N	\N	EFO	4	EFO	experimental factor	polar solvent role
CHEBI:48358	\N	\N	"" []	CHEBI:48358	"" []	62551	\N	\N	EFO	0	EFO	polar aprotic solvent role	polar aprotic solvent role
CHEBI:51086	CHEBI:48358	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:48358	"" []	201989	\N	\N	EFO	1	EFO	chemical role	polar aprotic solvent role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:48358	"" []	554893	\N	\N	EFO	2	EFO	role	polar aprotic solvent role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:48358	"" []	1137587	\N	\N	EFO	3	EFO	material property	polar aprotic solvent role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48358	"" []	2020719	\N	\N	EFO	4	EFO	experimental factor	polar aprotic solvent role
CHEBI:4836	\N	\N	"An oxazinooxazine that has formula C12H23NO2." []	CHEBI:4836	"An oxazinooxazine that has formula C12H23NO2." []	62552	\N	\N	EFO	0	EFO	amphiprotic solvent role	amphiprotic solvent role
CHEBI:51086	CHEBI:4836	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:4836	"An oxazinooxazine that has formula C12H23NO2." []	201990	\N	\N	EFO	1	EFO	chemical role	amphiprotic solvent role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:4836	"An oxazinooxazine that has formula C12H23NO2." []	554894	\N	\N	EFO	2	EFO	role	amphiprotic solvent role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:4836	"An oxazinooxazine that has formula C12H23NO2." []	1137588	\N	\N	EFO	3	EFO	material property	amphiprotic solvent role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4836	"An oxazinooxazine that has formula C12H23NO2." []	2020720	\N	\N	EFO	4	EFO	experimental factor	amphiprotic solvent role
CHEBI:48362	\N	\N	"" []	CHEBI:48362	"" []	62553	\N	\N	EFO	0	EFO	but-1-ene	but-1-ene
CHEBI:37577	CHEBI:48362	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:48362	"" []	201991	\N	\N	EFO	1	EFO	chemical compound	but-1-ene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:48362	"" []	554895	\N	\N	EFO	2	EFO	chemical entity	but-1-ene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:48362	"" []	1137589	\N	\N	EFO	3	EFO	material entity	but-1-ene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48362	"" []	2020721	\N	\N	EFO	4	EFO	experimental factor	but-1-ene
CHEBI:48416	\N	\N	"A biphenylyltetrazole that has formula C24H26N6O3." []	CHEBI:48416	"A biphenylyltetrazole that has formula C24H26N6O3." []	62554	\N	\N	EFO	0	EFO	olmesartan	olmesartan
CHEBI:23888	CHEBI:48416	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:48416	"A biphenylyltetrazole that has formula C24H26N6O3." []	201992	\N	\N	EFO	1	EFO	drug	olmesartan
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:48416	"A biphenylyltetrazole that has formula C24H26N6O3." []	554896	\N	\N	EFO	2	EFO	chemical compound	olmesartan
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:48416	"A biphenylyltetrazole that has formula C24H26N6O3." []	1137590	\N	\N	EFO	3	EFO	chemical entity	olmesartan
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:48416	"A biphenylyltetrazole that has formula C24H26N6O3." []	2020722	\N	\N	EFO	4	EFO	material entity	olmesartan
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48416	"A biphenylyltetrazole that has formula C24H26N6O3." []	3175578	\N	\N	EFO	5	EFO	experimental factor	olmesartan
CHEBI:48432	\N	\N	"" []	CHEBI:48432	"" []	62555	\N	\N	EFO	0	EFO	angiotensin II	angiotensin II
CHEBI:37577	CHEBI:48432	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:48432	"" []	201993	\N	\N	EFO	1	EFO	chemical compound	angiotensin II
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:48432	"" []	554897	\N	\N	EFO	2	EFO	chemical entity	angiotensin II
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:48432	"" []	1137591	\N	\N	EFO	3	EFO	material entity	angiotensin II
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48432	"" []	2020723	\N	\N	EFO	4	EFO	experimental factor	angiotensin II
CHEBI:48558	\N	\N	"\\"A ring assembly that has formula C23H26N2O.\\" []" []	CHEBI:48558	"\\"A ring assembly that has formula C23H26N2O.\\" []" []	62556	\N	\N	EFO	0	EFO	roxindole	roxindole
CHEBI:23888	CHEBI:48558	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:48558	"\\"A ring assembly that has formula C23H26N2O.\\" []" []	201994	\N	\N	EFO	1	EFO	drug	roxindole
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:48558	"\\"A ring assembly that has formula C23H26N2O.\\" []" []	554898	\N	\N	EFO	2	EFO	chemical compound	roxindole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:48558	"\\"A ring assembly that has formula C23H26N2O.\\" []" []	1137592	\N	\N	EFO	3	EFO	chemical entity	roxindole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:48558	"\\"A ring assembly that has formula C23H26N2O.\\" []" []	2020724	\N	\N	EFO	4	EFO	material entity	roxindole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48558	"\\"A ring assembly that has formula C23H26N2O.\\" []" []	3175579	\N	\N	EFO	5	EFO	experimental factor	roxindole
CHEBI:48561	\N	\N	"A drug that binds to but does not activate dopamine receptors, thereby blocking the actions of dopamine or exogenous agonists." []	CHEBI:48561	"A drug that binds to but does not activate dopamine receptors, thereby blocking the actions of dopamine or exogenous agonists." []	62557	\N	\N	EFO	0	EFO	dopaminergic antagonist	dopaminergic antagonist
EFO:0001899	CHEBI:48561	\N	"" []	CHEBI:48561	"A drug that binds to but does not activate dopamine receptors, thereby blocking the actions of dopamine or exogenous agonists." []	201995	\N	\N	EFO	1	EFO	drug role	dopaminergic antagonist
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:48561	"A drug that binds to but does not activate dopamine receptors, thereby blocking the actions of dopamine or exogenous agonists." []	554899	\N	\N	EFO	2	EFO	chemical role	dopaminergic antagonist
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:48561	"A drug that binds to but does not activate dopamine receptors, thereby blocking the actions of dopamine or exogenous agonists." []	1137593	\N	\N	EFO	3	EFO	role	dopaminergic antagonist
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:48561	"A drug that binds to but does not activate dopamine receptors, thereby blocking the actions of dopamine or exogenous agonists." []	2020725	\N	\N	EFO	4	EFO	material property	dopaminergic antagonist
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48561	"A drug that binds to but does not activate dopamine receptors, thereby blocking the actions of dopamine or exogenous agonists." []	3175580	\N	\N	EFO	5	EFO	experimental factor	dopaminergic antagonist
CHEBI:48574	\N	\N	"" []	CHEBI:48574	"" []	62558	\N	\N	EFO	0	EFO	phenylbutazone	phenylbutazone
CHEBI:37577	CHEBI:48574	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:48574	"" []	201996	\N	\N	EFO	1	EFO	chemical compound	phenylbutazone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:48574	"" []	554900	\N	\N	EFO	2	EFO	chemical entity	phenylbutazone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:48574	"" []	1137594	\N	\N	EFO	3	EFO	material entity	phenylbutazone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48574	"" []	2020726	\N	\N	EFO	4	EFO	experimental factor	phenylbutazone
CHEBI:48607	\N	\N	"A metal chloride salt with a Li(+) counterion." []	CHEBI:48607	"A metal chloride salt with a Li(+) counterion." []	62559	\N	\N	EFO	0	EFO	lithium chloride	lithium chloride
CHEBI:24431	CHEBI:48607	\N	"" []	CHEBI:48607	"A metal chloride salt with a Li(+) counterion." []	201997	\N	\N	EFO	1	EFO	chemical entity	lithium chloride
EFO:0004415	CHEBI:48607	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:48607	"A metal chloride salt with a Li(+) counterion." []	201998	\N	\N	EFO	1	EFO	ionic salt	lithium chloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:48607	"A metal chloride salt with a Li(+) counterion." []	554901	\N	\N	EFO	2	EFO	chemical compound	lithium chloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:48607	"A metal chloride salt with a Li(+) counterion." []	1137595	\N	\N	EFO	3	EFO	chemical entity	lithium chloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:48607	"A metal chloride salt with a Li(+) counterion." []	2020727	\N	\N	EFO	4	EFO	material entity	lithium chloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48607	"A metal chloride salt with a Li(+) counterion." []	3175581	\N	\N	EFO	5	EFO	experimental factor	lithium chloride
CHEBI:4877	\N	\N	"" []	CHEBI:4877	"" []	62560	\N	\N	EFO	0	EFO	ethambutol	ethambutol
CHEBI:37577	CHEBI:4877	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4877	"" []	201999	\N	\N	EFO	1	EFO	chemical compound	ethambutol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4877	"" []	554902	\N	\N	EFO	2	EFO	chemical entity	ethambutol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4877	"" []	1137596	\N	\N	EFO	3	EFO	material entity	ethambutol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4877	"" []	2020728	\N	\N	EFO	4	EFO	experimental factor	ethambutol
CHEBI:48843	\N	\N	"A selenite salt that has formula Na2O3Se." []	CHEBI:48843	"A selenite salt that has formula Na2O3Se." []	62561	\N	\N	EFO	0	EFO	sodium selenite	sodium selenite
CHEBI:37577	CHEBI:48843	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:48843	"A selenite salt that has formula Na2O3Se." []	202000	\N	\N	EFO	1	EFO	chemical compound	sodium selenite
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:48843	"A selenite salt that has formula Na2O3Se." []	554903	\N	\N	EFO	2	EFO	chemical entity	sodium selenite
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:48843	"A selenite salt that has formula Na2O3Se." []	1137597	\N	\N	EFO	3	EFO	material entity	sodium selenite
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48843	"A selenite salt that has formula Na2O3Se." []	2020729	\N	\N	EFO	4	EFO	experimental factor	sodium selenite
CHEBI:4885	\N	\N	"" []	CHEBI:4885	"" []	62562	\N	\N	EFO	0	EFO	ethionamide	ethionamide
CHEBI:37577	CHEBI:4885	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4885	"" []	202001	\N	\N	EFO	1	EFO	chemical compound	ethionamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4885	"" []	554904	\N	\N	EFO	2	EFO	chemical entity	ethionamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4885	"" []	1137598	\N	\N	EFO	3	EFO	material entity	ethionamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4885	"" []	2020730	\N	\N	EFO	4	EFO	experimental factor	ethionamide
CHEBI:48864	\N	\N	"A benzodiazepine (sometimes colloquially \\"benzo\\"; often abbreviated \\"BZD\\") is a psychoactive drug whose core chemical structure is the fusion of a benzene ring and a diazepine ring. The first benzodiazepine, chlordiazepoxide (Librium), was discovered accidentally by Leo Sternbach in 1955, and made available in 1960 by Hoffmann La Roche, which has also marketed diazepam (Valium) since 1963.[1]" []	CHEBI:48864	"A benzodiazepine (sometimes colloquially \\"benzo\\"; often abbreviated \\"BZD\\") is a psychoactive drug whose core chemical structure is the fusion of a benzene ring and a diazepine ring. The first benzodiazepine, chlordiazepoxide (Librium), was discovered accidentally by Leo Sternbach in 1955, and made available in 1960 by Hoffmann La Roche, which has also marketed diazepam (Valium) since 1963.[1]" []	62563	\N	\N	EFO	0	EFO	benzothiadiazole	benzothiadiazole
CHEBI:23888	CHEBI:48864	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:48864	"A benzodiazepine (sometimes colloquially \\"benzo\\"; often abbreviated \\"BZD\\") is a psychoactive drug whose core chemical structure is the fusion of a benzene ring and a diazepine ring. The first benzodiazepine, chlordiazepoxide (Librium), was discovered accidentally by Leo Sternbach in 1955, and made available in 1960 by Hoffmann La Roche, which has also marketed diazepam (Valium) since 1963.[1]" []	202002	\N	\N	EFO	1	EFO	drug	benzothiadiazole
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:48864	"A benzodiazepine (sometimes colloquially \\"benzo\\"; often abbreviated \\"BZD\\") is a psychoactive drug whose core chemical structure is the fusion of a benzene ring and a diazepine ring. The first benzodiazepine, chlordiazepoxide (Librium), was discovered accidentally by Leo Sternbach in 1955, and made available in 1960 by Hoffmann La Roche, which has also marketed diazepam (Valium) since 1963.[1]" []	554905	\N	\N	EFO	2	EFO	chemical compound	benzothiadiazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:48864	"A benzodiazepine (sometimes colloquially \\"benzo\\"; often abbreviated \\"BZD\\") is a psychoactive drug whose core chemical structure is the fusion of a benzene ring and a diazepine ring. The first benzodiazepine, chlordiazepoxide (Librium), was discovered accidentally by Leo Sternbach in 1955, and made available in 1960 by Hoffmann La Roche, which has also marketed diazepam (Valium) since 1963.[1]" []	1137599	\N	\N	EFO	3	EFO	chemical entity	benzothiadiazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:48864	"A benzodiazepine (sometimes colloquially \\"benzo\\"; often abbreviated \\"BZD\\") is a psychoactive drug whose core chemical structure is the fusion of a benzene ring and a diazepine ring. The first benzodiazepine, chlordiazepoxide (Librium), was discovered accidentally by Leo Sternbach in 1955, and made available in 1960 by Hoffmann La Roche, which has also marketed diazepam (Valium) since 1963.[1]" []	2020731	\N	\N	EFO	4	EFO	material entity	benzothiadiazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48864	"A benzodiazepine (sometimes colloquially \\"benzo\\"; often abbreviated \\"BZD\\") is a psychoactive drug whose core chemical structure is the fusion of a benzene ring and a diazepine ring. The first benzodiazepine, chlordiazepoxide (Librium), was discovered accidentally by Leo Sternbach in 1955, and made available in 1960 by Hoffmann La Roche, which has also marketed diazepam (Valium) since 1963.[1]" []	3175582	\N	\N	EFO	5	EFO	experimental factor	benzothiadiazole
CHEBI:48873	\N	\N	"Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists." []	CHEBI:48873	"Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists." []	62564	\N	\N	EFO	0	EFO	cholinergic antagonist	cholinergic antagonist
EFO:0001899	CHEBI:48873	\N	"" []	CHEBI:48873	"Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists." []	202003	\N	\N	EFO	1	EFO	drug role	cholinergic antagonist
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:48873	"Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists." []	554906	\N	\N	EFO	2	EFO	chemical role	cholinergic antagonist
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:48873	"Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists." []	1137600	\N	\N	EFO	3	EFO	role	cholinergic antagonist
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:48873	"Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists." []	2020732	\N	\N	EFO	4	EFO	material property	cholinergic antagonist
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48873	"Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists." []	3175583	\N	\N	EFO	5	EFO	experimental factor	cholinergic antagonist
CHEBI:48876	\N	\N	"A drug that binds to but does not activate muscarinic cholinergic receptors, thereby blocking the actions of endogenous acetylcholine or exogenous agonists." []	CHEBI:48876	"A drug that binds to but does not activate muscarinic cholinergic receptors, thereby blocking the actions of endogenous acetylcholine or exogenous agonists." []	62565	\N	\N	EFO	0	EFO	muscarinic antagonist	muscarinic antagonist
EFO:0001899	CHEBI:48876	\N	"" []	CHEBI:48876	"A drug that binds to but does not activate muscarinic cholinergic receptors, thereby blocking the actions of endogenous acetylcholine or exogenous agonists." []	202004	\N	\N	EFO	1	EFO	drug role	muscarinic antagonist
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:48876	"A drug that binds to but does not activate muscarinic cholinergic receptors, thereby blocking the actions of endogenous acetylcholine or exogenous agonists." []	554907	\N	\N	EFO	2	EFO	chemical role	muscarinic antagonist
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:48876	"A drug that binds to but does not activate muscarinic cholinergic receptors, thereby blocking the actions of endogenous acetylcholine or exogenous agonists." []	1137601	\N	\N	EFO	3	EFO	role	muscarinic antagonist
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:48876	"A drug that binds to but does not activate muscarinic cholinergic receptors, thereby blocking the actions of endogenous acetylcholine or exogenous agonists." []	2020733	\N	\N	EFO	4	EFO	material property	muscarinic antagonist
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48876	"A drug that binds to but does not activate muscarinic cholinergic receptors, thereby blocking the actions of endogenous acetylcholine or exogenous agonists." []	3175584	\N	\N	EFO	5	EFO	experimental factor	muscarinic antagonist
CHEBI:48958	\N	\N	"A monoazo compound that has formula C6H12N4O2." []	CHEBI:48958	"A monoazo compound that has formula C6H12N4O2." []	62566	\N	\N	EFO	0	EFO	1,1'-azobis(N,N-dimethylformamide)	1,1'-azobis(N,N-dimethylformamide)
CHEBI:24431	CHEBI:48958	\N	"" []	CHEBI:48958	"A monoazo compound that has formula C6H12N4O2." []	202005	\N	\N	EFO	1	EFO	chemical entity	1,1'-azobis(N,N-dimethylformamide)
EFO:0004417	CHEBI:48958	\N	"" []	CHEBI:48958	"A monoazo compound that has formula C6H12N4O2." []	202006	\N	\N	EFO	1	EFO	amide	1,1'-azobis(N,N-dimethylformamide)
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:48958	"A monoazo compound that has formula C6H12N4O2." []	554908	\N	\N	EFO	2	EFO	chemical compound	1,1'-azobis(N,N-dimethylformamide)
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:48958	"A monoazo compound that has formula C6H12N4O2." []	1137602	\N	\N	EFO	3	EFO	chemical entity	1,1'-azobis(N,N-dimethylformamide)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:48958	"A monoazo compound that has formula C6H12N4O2." []	2020734	\N	\N	EFO	4	EFO	material entity	1,1'-azobis(N,N-dimethylformamide)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:48958	"A monoazo compound that has formula C6H12N4O2." []	3175585	\N	\N	EFO	5	EFO	experimental factor	1,1'-azobis(N,N-dimethylformamide)
CHEBI:4903	\N	\N	"" []	CHEBI:4903	"" []	62567	\N	\N	EFO	0	EFO	17alpha-ethynylestradiol	17alpha-ethynylestradiol
CHEBI:37577	CHEBI:4903	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4903	"" []	202007	\N	\N	EFO	1	EFO	chemical compound	17alpha-ethynylestradiol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4903	"" []	554909	\N	\N	EFO	2	EFO	chemical entity	17alpha-ethynylestradiol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4903	"" []	1137603	\N	\N	EFO	3	EFO	material entity	17alpha-ethynylestradiol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4903	"" []	2020735	\N	\N	EFO	4	EFO	experimental factor	17alpha-ethynylestradiol
CHEBI:4911	\N	\N	"A beta-D-glucoside that has formula C29H32O13." []	CHEBI:4911	"A beta-D-glucoside that has formula C29H32O13." []	62568	\N	\N	EFO	0	EFO	etoposide	etoposide
CHEBI:23888	CHEBI:4911	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:4911	"A beta-D-glucoside that has formula C29H32O13." []	202008	\N	\N	EFO	1	EFO	drug	etoposide
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4911	"A beta-D-glucoside that has formula C29H32O13." []	554910	\N	\N	EFO	2	EFO	chemical compound	etoposide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4911	"A beta-D-glucoside that has formula C29H32O13." []	1137604	\N	\N	EFO	3	EFO	chemical entity	etoposide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4911	"A beta-D-glucoside that has formula C29H32O13." []	2020736	\N	\N	EFO	4	EFO	material entity	etoposide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4911	"A beta-D-glucoside that has formula C29H32O13." []	3175586	\N	\N	EFO	5	EFO	experimental factor	etoposide
CHEBI:4917	\N	\N	"A guaiacol with an allyl chain substituted para to the hydroxy group." []	CHEBI:4917	"A guaiacol with an allyl chain substituted para to the hydroxy group." []	62569	\N	\N	EFO	0	EFO	eugenol	eugenol
CHEBI:37577	CHEBI:4917	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4917	"A guaiacol with an allyl chain substituted para to the hydroxy group." []	202009	\N	\N	EFO	1	EFO	chemical compound	eugenol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4917	"A guaiacol with an allyl chain substituted para to the hydroxy group." []	554911	\N	\N	EFO	2	EFO	chemical entity	eugenol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4917	"A guaiacol with an allyl chain substituted para to the hydroxy group." []	1137605	\N	\N	EFO	3	EFO	material entity	eugenol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4917	"A guaiacol with an allyl chain substituted para to the hydroxy group." []	2020737	\N	\N	EFO	4	EFO	experimental factor	eugenol
CHEBI:4918	\N	\N	"A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET)." []	CHEBI:4918	"A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET)." []	62570	\N	\N	EFO	0	EFO	methyleugenol	methyleugenol
CHEBI:37577	CHEBI:4918	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4918	"A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET)." []	202010	\N	\N	EFO	1	EFO	chemical compound	methyleugenol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4918	"A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET)." []	554912	\N	\N	EFO	2	EFO	chemical entity	methyleugenol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4918	"A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET)." []	1137606	\N	\N	EFO	3	EFO	material entity	methyleugenol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4918	"A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET)." []	2020738	\N	\N	EFO	4	EFO	experimental factor	methyleugenol
CHEBI:49183	\N	\N	"" []	CHEBI:49183	"" []	62571	\N	\N	EFO	0	EFO	phosphatidylcholine	phosphatidylcholine
CHEBI:16247	CHEBI:49183	\N	"" []	CHEBI:49183	"" []	202011	\N	\N	EFO	1	EFO	phospholipid	phosphatidylcholine
CHEBI:18059	CHEBI:16247	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:49183	"" []	554913	\N	\N	EFO	2	EFO	lipid	phosphatidylcholine
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:49183	"" []	1137607	\N	\N	EFO	3	EFO	chemical compound	phosphatidylcholine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:49183	"" []	2020739	\N	\N	EFO	4	EFO	chemical entity	phosphatidylcholine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:49183	"" []	3175587	\N	\N	EFO	5	EFO	material entity	phosphatidylcholine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:49183	"" []	4386543	\N	\N	EFO	6	EFO	experimental factor	phosphatidylcholine
CHEBI:49375	\N	\N	"A N-(2-hydroxyethyl)piperazine that has formula C22H26ClN7O2S." []	CHEBI:49375	"A N-(2-hydroxyethyl)piperazine that has formula C22H26ClN7O2S." []	62572	\N	\N	EFO	0	EFO	dasatinib	dasatinib
CHEBI:23888	CHEBI:49375	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:49375	"A N-(2-hydroxyethyl)piperazine that has formula C22H26ClN7O2S." []	202012	\N	\N	EFO	1	EFO	drug	dasatinib
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:49375	"A N-(2-hydroxyethyl)piperazine that has formula C22H26ClN7O2S." []	554914	\N	\N	EFO	2	EFO	chemical compound	dasatinib
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:49375	"A N-(2-hydroxyethyl)piperazine that has formula C22H26ClN7O2S." []	1137608	\N	\N	EFO	3	EFO	chemical entity	dasatinib
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:49375	"A N-(2-hydroxyethyl)piperazine that has formula C22H26ClN7O2S." []	2020740	\N	\N	EFO	4	EFO	material entity	dasatinib
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:49375	"A N-(2-hydroxyethyl)piperazine that has formula C22H26ClN7O2S." []	3175588	\N	\N	EFO	5	EFO	experimental factor	dasatinib
CHEBI:4953	\N	\N	"Androsta-1,4-diene-3,17-dione in which the hydrogens at position 6 are replaced by a double bond to a methylene group.a selective inhibitor of the aromatase (oestrogen synthase) system, it is used in the treatment of advanced breast cancer." []	CHEBI:4953	"Androsta-1,4-diene-3,17-dione in which the hydrogens at position 6 are replaced by a double bond to a methylene group.a selective inhibitor of the aromatase (oestrogen synthase) system, it is used in the treatment of advanced breast cancer." []	62573	\N	\N	EFO	0	EFO	exemestane	exemestane
CHEBI:23888	CHEBI:4953	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:4953	"Androsta-1,4-diene-3,17-dione in which the hydrogens at position 6 are replaced by a double bond to a methylene group.a selective inhibitor of the aromatase (oestrogen synthase) system, it is used in the treatment of advanced breast cancer." []	202013	\N	\N	EFO	1	EFO	drug	exemestane
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4953	"Androsta-1,4-diene-3,17-dione in which the hydrogens at position 6 are replaced by a double bond to a methylene group.a selective inhibitor of the aromatase (oestrogen synthase) system, it is used in the treatment of advanced breast cancer." []	554915	\N	\N	EFO	2	EFO	chemical compound	exemestane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4953	"Androsta-1,4-diene-3,17-dione in which the hydrogens at position 6 are replaced by a double bond to a methylene group.a selective inhibitor of the aromatase (oestrogen synthase) system, it is used in the treatment of advanced breast cancer." []	1137609	\N	\N	EFO	3	EFO	chemical entity	exemestane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4953	"Androsta-1,4-diene-3,17-dione in which the hydrogens at position 6 are replaced by a double bond to a methylene group.a selective inhibitor of the aromatase (oestrogen synthase) system, it is used in the treatment of advanced breast cancer." []	2020741	\N	\N	EFO	4	EFO	material entity	exemestane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4953	"Androsta-1,4-diene-3,17-dione in which the hydrogens at position 6 are replaced by a double bond to a methylene group.a selective inhibitor of the aromatase (oestrogen synthase) system, it is used in the treatment of advanced breast cancer." []	3175589	\N	\N	EFO	5	EFO	experimental factor	exemestane
CHEBI:49553	\N	\N	"Chloride of copper in which the metal is in the +2 oxidation state." []	CHEBI:49553	"Chloride of copper in which the metal is in the +2 oxidation state." []	62574	\N	\N	EFO	0	EFO	copper(II) chloride	copper(II) chloride
EFO:0004415	CHEBI:49553	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:49553	"Chloride of copper in which the metal is in the +2 oxidation state." []	202014	\N	\N	EFO	1	EFO	ionic salt	copper(II) chloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:49553	"Chloride of copper in which the metal is in the +2 oxidation state." []	554916	\N	\N	EFO	2	EFO	chemical compound	copper(II) chloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:49553	"Chloride of copper in which the metal is in the +2 oxidation state." []	1137610	\N	\N	EFO	3	EFO	chemical entity	copper(II) chloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:49553	"Chloride of copper in which the metal is in the +2 oxidation state." []	2020742	\N	\N	EFO	4	EFO	material entity	copper(II) chloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:49553	"Chloride of copper in which the metal is in the +2 oxidation state." []	3175590	\N	\N	EFO	5	EFO	experimental factor	copper(II) chloride
CHEBI:49575	\N	\N	"A 1,4-benzodiazepinone that has formula C16H13ClN2O." []	CHEBI:49575	"A 1,4-benzodiazepinone that has formula C16H13ClN2O." []	62575	\N	\N	EFO	0	EFO	diazepam	diazepam
CHEBI:23888	CHEBI:49575	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:49575	"A 1,4-benzodiazepinone that has formula C16H13ClN2O." []	202015	\N	\N	EFO	1	EFO	drug	diazepam
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:49575	"A 1,4-benzodiazepinone that has formula C16H13ClN2O." []	554917	\N	\N	EFO	2	EFO	chemical compound	diazepam
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:49575	"A 1,4-benzodiazepinone that has formula C16H13ClN2O." []	1137611	\N	\N	EFO	3	EFO	chemical entity	diazepam
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:49575	"A 1,4-benzodiazepinone that has formula C16H13ClN2O." []	2020743	\N	\N	EFO	4	EFO	material entity	diazepam
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:49575	"A 1,4-benzodiazepinone that has formula C16H13ClN2O." []	3175591	\N	\N	EFO	5	EFO	experimental factor	diazepam
CHEBI:49603	\N	\N	"A quinazoline that has formula C29H26ClFN4O4S." []	CHEBI:49603	"A quinazoline that has formula C29H26ClFN4O4S." []	62576	\N	\N	EFO	0	EFO	lapatinib	lapatinib
CHEBI:23888	CHEBI:49603	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:49603	"A quinazoline that has formula C29H26ClFN4O4S." []	202016	\N	\N	EFO	1	EFO	drug	lapatinib
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:49603	"A quinazoline that has formula C29H26ClFN4O4S." []	554918	\N	\N	EFO	2	EFO	chemical compound	lapatinib
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:49603	"A quinazoline that has formula C29H26ClFN4O4S." []	1137612	\N	\N	EFO	3	EFO	chemical entity	lapatinib
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:49603	"A quinazoline that has formula C29H26ClFN4O4S." []	2020744	\N	\N	EFO	4	EFO	material entity	lapatinib
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:49603	"A quinazoline that has formula C29H26ClFN4O4S." []	3175592	\N	\N	EFO	5	EFO	experimental factor	lapatinib
CHEBI:49662	\N	\N	"" []	CHEBI:49662	"" []	62577	\N	\N	EFO	0	EFO	indomethacin	indomethacin
CHEBI:23888	CHEBI:49662	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:49662	"" []	202017	\N	\N	EFO	1	EFO	drug	indomethacin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:49662	"" []	554919	\N	\N	EFO	2	EFO	chemical compound	indomethacin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:49662	"" []	1137613	\N	\N	EFO	3	EFO	chemical entity	indomethacin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:49662	"" []	2020745	\N	\N	EFO	4	EFO	material entity	indomethacin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:49662	"" []	3175593	\N	\N	EFO	5	EFO	experimental factor	indomethacin
CHEBI:49668	\N	\N	"A quinazoline that has formula C22H24ClFN4O3." []	CHEBI:49668	"A quinazoline that has formula C22H24ClFN4O3." []	62578	\N	\N	EFO	0	EFO	gefitinib	gefitinib
CHEBI:37577	CHEBI:49668	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:49668	"A quinazoline that has formula C22H24ClFN4O3." []	202018	\N	\N	EFO	1	EFO	chemical compound	gefitinib
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:49668	"A quinazoline that has formula C22H24ClFN4O3." []	554920	\N	\N	EFO	2	EFO	chemical entity	gefitinib
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:49668	"A quinazoline that has formula C22H24ClFN4O3." []	1137614	\N	\N	EFO	3	EFO	material entity	gefitinib
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:49668	"A quinazoline that has formula C22H24ClFN4O3." []	2020746	\N	\N	EFO	4	EFO	experimental factor	gefitinib
CHEBI:49747	\N	\N	"A methylmercury compound that has formula CH3Hg." []	CHEBI:49747	"A methylmercury compound that has formula CH3Hg." []	62579	\N	\N	EFO	0	EFO	methylmercury	methylmercury
CHEBI:37577	CHEBI:49747	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:49747	"A methylmercury compound that has formula CH3Hg." []	202019	\N	\N	EFO	1	EFO	chemical compound	methylmercury
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:49747	"A methylmercury compound that has formula CH3Hg." []	554921	\N	\N	EFO	2	EFO	chemical entity	methylmercury
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:49747	"A methylmercury compound that has formula CH3Hg." []	1137615	\N	\N	EFO	3	EFO	material entity	methylmercury
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:49747	"A methylmercury compound that has formula CH3Hg." []	2020747	\N	\N	EFO	4	EFO	experimental factor	methylmercury
CHEBI:4975	\N	\N	"" []	CHEBI:4975	"" []	62580	\N	\N	EFO	0	EFO	famotidine	famotidine
CHEBI:37577	CHEBI:4975	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4975	"" []	202020	\N	\N	EFO	1	EFO	chemical compound	famotidine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4975	"" []	554922	\N	\N	EFO	2	EFO	chemical entity	famotidine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4975	"" []	1137616	\N	\N	EFO	3	EFO	material entity	famotidine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4975	"" []	2020748	\N	\N	EFO	4	EFO	experimental factor	famotidine
CHEBI:49798	\N	\N	"" []	CHEBI:49798	"" []	62581	\N	\N	EFO	0	EFO	tetraethylenepentamine	tetraethylenepentamine
EFO:0004417	CHEBI:49798	\N	"" []	CHEBI:49798	"" []	202021	\N	\N	EFO	1	EFO	amide	tetraethylenepentamine
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:49798	"" []	554923	\N	\N	EFO	2	EFO	chemical compound	tetraethylenepentamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:49798	"" []	1137617	\N	\N	EFO	3	EFO	chemical entity	tetraethylenepentamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:49798	"" []	2020749	\N	\N	EFO	4	EFO	material entity	tetraethylenepentamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:49798	"" []	3175594	\N	\N	EFO	5	EFO	experimental factor	tetraethylenepentamine
CHEBI:4991	\N	\N	"\\"The complex formed between iron(III) and citrate.\\" []" []	CHEBI:4991	"\\"The complex formed between iron(III) and citrate.\\" []" []	62582	\N	\N	EFO	0	EFO	iron(III) dicitrate	iron(III) dicitrate
EFO:0004415	CHEBI:4991	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:4991	"\\"The complex formed between iron(III) and citrate.\\" []" []	202022	\N	\N	EFO	1	EFO	ionic salt	iron(III) dicitrate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:4991	"\\"The complex formed between iron(III) and citrate.\\" []" []	554924	\N	\N	EFO	2	EFO	chemical compound	iron(III) dicitrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:4991	"\\"The complex formed between iron(III) and citrate.\\" []" []	1137618	\N	\N	EFO	3	EFO	chemical entity	iron(III) dicitrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:4991	"\\"The complex formed between iron(III) and citrate.\\" []" []	2020750	\N	\N	EFO	4	EFO	material entity	iron(III) dicitrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:4991	"\\"The complex formed between iron(III) and citrate.\\" []" []	3175595	\N	\N	EFO	5	EFO	experimental factor	iron(III) dicitrate
CHEBI:5001	\N	\N	"\\"A chlorobenzophenone that has formula C20H21ClO4.\\" []" []	CHEBI:5001	"\\"A chlorobenzophenone that has formula C20H21ClO4.\\" []" []	62583	\N	\N	EFO	0	EFO	fenofibrate	fenofibrate
CHEBI:23888	CHEBI:5001	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:5001	"\\"A chlorobenzophenone that has formula C20H21ClO4.\\" []" []	202023	\N	\N	EFO	1	EFO	drug	fenofibrate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5001	"\\"A chlorobenzophenone that has formula C20H21ClO4.\\" []" []	554925	\N	\N	EFO	2	EFO	chemical compound	fenofibrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5001	"\\"A chlorobenzophenone that has formula C20H21ClO4.\\" []" []	1137619	\N	\N	EFO	3	EFO	chemical entity	fenofibrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5001	"\\"A chlorobenzophenone that has formula C20H21ClO4.\\" []" []	2020751	\N	\N	EFO	4	EFO	material entity	fenofibrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5001	"\\"A chlorobenzophenone that has formula C20H21ClO4.\\" []" []	3175596	\N	\N	EFO	5	EFO	experimental factor	fenofibrate
CHEBI:5002	\N	\N	"\\"A benzazepine that has formula C16H16ClNO3.\\" []" []	CHEBI:5002	"\\"A benzazepine that has formula C16H16ClNO3.\\" []" []	62584	\N	\N	EFO	0	EFO	fenoldopam	fenoldopam
CHEBI:23888	CHEBI:5002	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:5002	"\\"A benzazepine that has formula C16H16ClNO3.\\" []" []	202024	\N	\N	EFO	1	EFO	drug	fenoldopam
CHEBI:59219	CHEBI:5002	\N	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	CHEBI:5002	"\\"A benzazepine that has formula C16H16ClNO3.\\" []" []	202025	\N	\N	EFO	1	EFO	caerulein	fenoldopam
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5002	"\\"A benzazepine that has formula C16H16ClNO3.\\" []" []	554926	\N	\N	EFO	2	EFO	chemical compound	fenoldopam
CHEBI:37577	CHEBI:59219	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5002	"\\"A benzazepine that has formula C16H16ClNO3.\\" []" []	554927	\N	\N	EFO	2	EFO	chemical compound	fenoldopam
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5002	"\\"A benzazepine that has formula C16H16ClNO3.\\" []" []	1137620	\N	\N	EFO	3	EFO	chemical entity	fenoldopam
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5002	"\\"A benzazepine that has formula C16H16ClNO3.\\" []" []	2020752	\N	\N	EFO	4	EFO	material entity	fenoldopam
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5002	"\\"A benzazepine that has formula C16H16ClNO3.\\" []" []	3175597	\N	\N	EFO	5	EFO	experimental factor	fenoldopam
CHEBI:50059	\N	\N	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	CHEBI:50059	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	62585	\N	\N	EFO	0	EFO	imidazole	imidazole
CHEBI:37577	CHEBI:50059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50059	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	202026	\N	\N	EFO	1	EFO	chemical compound	imidazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50059	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	554928	\N	\N	EFO	2	EFO	chemical entity	imidazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50059	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	1137621	\N	\N	EFO	3	EFO	material entity	imidazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50059	"This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade." []	2020753	\N	\N	EFO	4	EFO	experimental factor	imidazole
CHEBI:50091	\N	\N	"A glutathione derivative that has formula C10H16N4O7S." []	CHEBI:50091	"A glutathione derivative that has formula C10H16N4O7S." []	62586	\N	\N	EFO	0	EFO	S-nitrosoglutathione	S-nitrosoglutathione
CHEBI:37577	CHEBI:50091	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50091	"A glutathione derivative that has formula C10H16N4O7S." []	202027	\N	\N	EFO	1	EFO	chemical compound	S-nitrosoglutathione
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50091	"A glutathione derivative that has formula C10H16N4O7S." []	554929	\N	\N	EFO	2	EFO	chemical entity	S-nitrosoglutathione
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50091	"A glutathione derivative that has formula C10H16N4O7S." []	1137622	\N	\N	EFO	3	EFO	material entity	S-nitrosoglutathione
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50091	"A glutathione derivative that has formula C10H16N4O7S." []	2020754	\N	\N	EFO	4	EFO	experimental factor	S-nitrosoglutathione
CHEBI:50095	\N	\N	"" []	CHEBI:50095	"" []	62587	\N	\N	EFO	0	EFO	bucladesine	bucladesine
CHEBI:23888	CHEBI:50095	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:50095	"" []	202028	\N	\N	EFO	1	EFO	drug	bucladesine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50095	"" []	554930	\N	\N	EFO	2	EFO	chemical compound	bucladesine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50095	"" []	1137623	\N	\N	EFO	3	EFO	chemical entity	bucladesine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50095	"" []	2020755	\N	\N	EFO	4	EFO	material entity	bucladesine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50095	"" []	3175598	\N	\N	EFO	5	EFO	experimental factor	bucladesine
CHEBI:50103	\N	\N	"An agent that binds to and activates excitatory amino acid receptors." []	CHEBI:50103	"An agent that binds to and activates excitatory amino acid receptors." []	62588	\N	\N	EFO	0	EFO	excitatory amino acid agonist	excitatory amino acid agonist
EFO:0001899	CHEBI:50103	\N	"" []	CHEBI:50103	"An agent that binds to and activates excitatory amino acid receptors." []	202029	\N	\N	EFO	1	EFO	drug role	excitatory amino acid agonist
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50103	"An agent that binds to and activates excitatory amino acid receptors." []	554931	\N	\N	EFO	2	EFO	chemical role	excitatory amino acid agonist
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50103	"An agent that binds to and activates excitatory amino acid receptors." []	1137624	\N	\N	EFO	3	EFO	role	excitatory amino acid agonist
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50103	"An agent that binds to and activates excitatory amino acid receptors." []	2020756	\N	\N	EFO	4	EFO	material property	excitatory amino acid agonist
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50103	"An agent that binds to and activates excitatory amino acid receptors." []	3175599	\N	\N	EFO	5	EFO	experimental factor	excitatory amino acid agonist
CHEBI:50112	\N	\N	"Any hormone that is responsible for controlling sexual characteristics and reproductive function." []	CHEBI:50112	"Any hormone that is responsible for controlling sexual characteristics and reproductive function." []	62589	\N	\N	EFO	0	EFO	sex hormone	sex hormone
EFO:0001824	CHEBI:50112	\N	"" []	CHEBI:50112	"Any hormone that is responsible for controlling sexual characteristics and reproductive function." []	202030	\N	\N	EFO	1	EFO	hormone role	sex hormone
CHEBI:24432	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:50112	"Any hormone that is responsible for controlling sexual characteristics and reproductive function." []	554932	\N	\N	EFO	2	EFO	biological role	sex hormone
CHEBI:51086	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50112	"Any hormone that is responsible for controlling sexual characteristics and reproductive function." []	554933	\N	\N	EFO	2	EFO	chemical role	sex hormone
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50112	"Any hormone that is responsible for controlling sexual characteristics and reproductive function." []	1137625	\N	\N	EFO	3	EFO	role	sex hormone
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50112	"Any hormone that is responsible for controlling sexual characteristics and reproductive function." []	1137626	\N	\N	EFO	3	EFO	role	sex hormone
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50112	"Any hormone that is responsible for controlling sexual characteristics and reproductive function." []	2020757	\N	\N	EFO	4	EFO	material property	sex hormone
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50112	"Any hormone that is responsible for controlling sexual characteristics and reproductive function." []	3175600	\N	\N	EFO	5	EFO	experimental factor	sex hormone
CHEBI:50113	\N	\N	"A steroid hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors." []	CHEBI:50113	"A steroid hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors." []	62590	\N	\N	EFO	0	EFO	androgen	androgen
CHEBI:24621	CHEBI:50113	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:50113	"A steroid hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors." []	202031	\N	\N	EFO	1	EFO	hormone	androgen
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50113	"A steroid hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors." []	554934	\N	\N	EFO	2	EFO	chemical compound	androgen
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50113	"A steroid hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors." []	1137627	\N	\N	EFO	3	EFO	chemical entity	androgen
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50113	"A steroid hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors." []	2020758	\N	\N	EFO	4	EFO	material entity	androgen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50113	"A steroid hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors." []	3175601	\N	\N	EFO	5	EFO	experimental factor	androgen
CHEBI:50114	\N	\N	"Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds." []	CHEBI:50114	"Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds." []	62591	\N	\N	EFO	0	EFO	estrogen	estrogen
CHEBI:26764	CHEBI:50114	\N	"Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE." []	CHEBI:50114	"Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds." []	202032	\N	\N	EFO	1	EFO	steroid hormone	estrogen
CHEBI:24621	CHEBI:26764	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:50114	"Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds." []	554935	\N	\N	EFO	2	EFO	hormone	estrogen
CHEBI:35341	CHEBI:26764	\N	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	CHEBI:50114	"Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds." []	554936	\N	\N	EFO	2	EFO	steroid	estrogen
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50114	"Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds." []	1137628	\N	\N	EFO	3	EFO	chemical compound	estrogen
CHEBI:37577	CHEBI:35341	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50114	"Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds." []	1137629	\N	\N	EFO	3	EFO	chemical compound	estrogen
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50114	"Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds." []	2020759	\N	\N	EFO	4	EFO	chemical entity	estrogen
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50114	"Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds." []	3175602	\N	\N	EFO	5	EFO	material entity	estrogen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50114	"Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds." []	4386544	\N	\N	EFO	6	EFO	experimental factor	estrogen
CHEBI:50122	\N	\N	"" []	CHEBI:50122	"" []	62592	\N	\N	EFO	0	EFO	rosiglitazone	rosiglitazone
CHEBI:23888	CHEBI:50122	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:50122	"" []	202033	\N	\N	EFO	1	EFO	drug	rosiglitazone
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50122	"" []	554937	\N	\N	EFO	2	EFO	chemical compound	rosiglitazone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50122	"" []	1137630	\N	\N	EFO	3	EFO	chemical entity	rosiglitazone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50122	"" []	2020760	\N	\N	EFO	4	EFO	material entity	rosiglitazone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50122	"" []	3175603	\N	\N	EFO	5	EFO	experimental factor	rosiglitazone
CHEBI:50131	\N	\N	"" []	CHEBI:50131	"" []	62593	\N	\N	EFO	0	EFO	5-aza-2'-deoxycytidine	5-aza-2'-deoxycytidine
CHEBI:23888	CHEBI:50131	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:50131	"" []	202034	\N	\N	EFO	1	EFO	drug	5-aza-2'-deoxycytidine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50131	"" []	554938	\N	\N	EFO	2	EFO	chemical compound	5-aza-2'-deoxycytidine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50131	"" []	1137631	\N	\N	EFO	3	EFO	chemical entity	5-aza-2'-deoxycytidine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50131	"" []	2020761	\N	\N	EFO	4	EFO	material entity	5-aza-2'-deoxycytidine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50131	"" []	3175604	\N	\N	EFO	5	EFO	experimental factor	5-aza-2'-deoxycytidine
CHEBI:50138	\N	\N	"An indazole that has formula C15H10Cl2N2O2." []	CHEBI:50138	"An indazole that has formula C15H10Cl2N2O2." []	62594	\N	\N	EFO	0	EFO	1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid	1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid
EFO:0004416	CHEBI:50138	\N	"" []	CHEBI:50138	"An indazole that has formula C15H10Cl2N2O2." []	202035	\N	\N	EFO	1	EFO	acid	1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50138	"An indazole that has formula C15H10Cl2N2O2." []	554939	\N	\N	EFO	2	EFO	chemical compound	1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50138	"An indazole that has formula C15H10Cl2N2O2." []	1137632	\N	\N	EFO	3	EFO	chemical entity	1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50138	"An indazole that has formula C15H10Cl2N2O2." []	2020762	\N	\N	EFO	4	EFO	material entity	1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50138	"An indazole that has formula C15H10Cl2N2O2." []	3175605	\N	\N	EFO	5	EFO	experimental factor	1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid
CHEBI:50144	\N	\N	"An organic sodium salt that has formula C3H3NaO3." []	CHEBI:50144	"An organic sodium salt that has formula C3H3NaO3." []	62595	\N	\N	EFO	0	EFO	sodium pyruvate	sodium pyruvate
CHEBI:37577	CHEBI:50144	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50144	"An organic sodium salt that has formula C3H3NaO3." []	202036	\N	\N	EFO	1	EFO	chemical compound	sodium pyruvate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50144	"An organic sodium salt that has formula C3H3NaO3." []	554940	\N	\N	EFO	2	EFO	chemical entity	sodium pyruvate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50144	"An organic sodium salt that has formula C3H3NaO3." []	1137633	\N	\N	EFO	3	EFO	material entity	sodium pyruvate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50144	"An organic sodium salt that has formula C3H3NaO3." []	2020763	\N	\N	EFO	4	EFO	experimental factor	sodium pyruvate
CHEBI:50148	\N	\N	"A morpholine that has formula C20H33NO." []	CHEBI:50148	"A morpholine that has formula C20H33NO." []	62596	\N	\N	EFO	0	EFO	fenpropimorph	fenpropimorph
CHEBI:23888	CHEBI:50148	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:50148	"A morpholine that has formula C20H33NO." []	202037	\N	\N	EFO	1	EFO	drug	fenpropimorph
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50148	"A morpholine that has formula C20H33NO." []	554941	\N	\N	EFO	2	EFO	chemical compound	fenpropimorph
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50148	"A morpholine that has formula C20H33NO." []	1137634	\N	\N	EFO	3	EFO	chemical entity	fenpropimorph
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50148	"A morpholine that has formula C20H33NO." []	2020764	\N	\N	EFO	4	EFO	material entity	fenpropimorph
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50148	"A morpholine that has formula C20H33NO." []	3175606	\N	\N	EFO	5	EFO	experimental factor	fenpropimorph
CHEBI:50154	\N	\N	"" []	CHEBI:50154	"" []	62597	\N	\N	EFO	0	EFO	1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane	1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane
CHEBI:37577	CHEBI:50154	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50154	"" []	202038	\N	\N	EFO	1	EFO	chemical compound	1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50154	"" []	554942	\N	\N	EFO	2	EFO	chemical entity	1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50154	"" []	1137635	\N	\N	EFO	3	EFO	material entity	1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50154	"" []	2020765	\N	\N	EFO	4	EFO	experimental factor	1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane
CHEBI:50159	\N	\N	"A steroid acid anion that has formula C22H29O4." []	CHEBI:50159	"A steroid acid anion that has formula C22H29O4." []	62598	\N	\N	EFO	0	EFO	canrenoate	canrenoate
CHEBI:37577	CHEBI:50159	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50159	"A steroid acid anion that has formula C22H29O4." []	202039	\N	\N	EFO	1	EFO	chemical compound	canrenoate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50159	"A steroid acid anion that has formula C22H29O4." []	554943	\N	\N	EFO	2	EFO	chemical entity	canrenoate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50159	"A steroid acid anion that has formula C22H29O4." []	1137636	\N	\N	EFO	3	EFO	material entity	canrenoate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50159	"A steroid acid anion that has formula C22H29O4." []	2020766	\N	\N	EFO	4	EFO	experimental factor	canrenoate
CHEBI:50161	\N	\N	"A metallotexaphyrin that has formula C52H72GdN5O14." []	CHEBI:50161	"A metallotexaphyrin that has formula C52H72GdN5O14." []	62599	\N	\N	EFO	0	EFO	motexafin gadolinium	motexafin gadolinium
CHEBI:23888	CHEBI:50161	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:50161	"A metallotexaphyrin that has formula C52H72GdN5O14." []	202040	\N	\N	EFO	1	EFO	drug	motexafin gadolinium
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50161	"A metallotexaphyrin that has formula C52H72GdN5O14." []	554944	\N	\N	EFO	2	EFO	chemical compound	motexafin gadolinium
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50161	"A metallotexaphyrin that has formula C52H72GdN5O14." []	1137637	\N	\N	EFO	3	EFO	chemical entity	motexafin gadolinium
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50161	"A metallotexaphyrin that has formula C52H72GdN5O14." []	2020767	\N	\N	EFO	4	EFO	material entity	motexafin gadolinium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50161	"A metallotexaphyrin that has formula C52H72GdN5O14." []	3175607	\N	\N	EFO	5	EFO	experimental factor	motexafin gadolinium
CHEBI:50177	\N	\N	"A drug used to treat or prevent skin disorders or for the routine care of skin." []	CHEBI:50177	"A drug used to treat or prevent skin disorders or for the routine care of skin." []	62600	\N	\N	EFO	0	EFO	dermatologic drug	dermatologic drug
EFO:0001899	CHEBI:50177	\N	"" []	CHEBI:50177	"A drug used to treat or prevent skin disorders or for the routine care of skin." []	202041	\N	\N	EFO	1	EFO	drug role	dermatologic drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50177	"A drug used to treat or prevent skin disorders or for the routine care of skin." []	554945	\N	\N	EFO	2	EFO	chemical role	dermatologic drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50177	"A drug used to treat or prevent skin disorders or for the routine care of skin." []	1137638	\N	\N	EFO	3	EFO	role	dermatologic drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50177	"A drug used to treat or prevent skin disorders or for the routine care of skin." []	2020768	\N	\N	EFO	4	EFO	material property	dermatologic drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50177	"A drug used to treat or prevent skin disorders or for the routine care of skin." []	3175608	\N	\N	EFO	5	EFO	experimental factor	dermatologic drug
CHEBI:50223	\N	\N	"A razoxane that has formula C11H16N4O4." []	CHEBI:50223	"A razoxane that has formula C11H16N4O4." []	62601	\N	\N	EFO	0	EFO	(+)-dexrazoxane	(+)-dexrazoxane
CHEBI:23888	CHEBI:50223	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:50223	"A razoxane that has formula C11H16N4O4." []	202042	\N	\N	EFO	1	EFO	drug	(+)-dexrazoxane
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50223	"A razoxane that has formula C11H16N4O4." []	554946	\N	\N	EFO	2	EFO	chemical compound	(+)-dexrazoxane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50223	"A razoxane that has formula C11H16N4O4." []	1137639	\N	\N	EFO	3	EFO	chemical entity	(+)-dexrazoxane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50223	"A razoxane that has formula C11H16N4O4." []	2020769	\N	\N	EFO	4	EFO	material entity	(+)-dexrazoxane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50223	"A razoxane that has formula C11H16N4O4." []	3175609	\N	\N	EFO	5	EFO	experimental factor	(+)-dexrazoxane
CHEBI:50249	\N	\N	"An agent that prevents blood clotting." []	CHEBI:50249	"An agent that prevents blood clotting." []	62602	\N	\N	EFO	0	EFO	anticoagulant	anticoagulant
EFO:0001899	CHEBI:50249	\N	"" []	CHEBI:50249	"An agent that prevents blood clotting." []	202043	\N	\N	EFO	1	EFO	drug role	anticoagulant
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50249	"An agent that prevents blood clotting." []	554947	\N	\N	EFO	2	EFO	chemical role	anticoagulant
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50249	"An agent that prevents blood clotting." []	1137640	\N	\N	EFO	3	EFO	role	anticoagulant
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50249	"An agent that prevents blood clotting." []	2020770	\N	\N	EFO	4	EFO	material property	anticoagulant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50249	"An agent that prevents blood clotting." []	3175610	\N	\N	EFO	5	EFO	experimental factor	anticoagulant
CHEBI:50266	\N	\N	"A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug." []	CHEBI:50266	"A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug." []	62603	\N	\N	EFO	0	EFO	prodrug role	prodrug role
CHEBI:51086	CHEBI:50266	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50266	"A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug." []	202044	\N	\N	EFO	1	EFO	chemical role	prodrug role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50266	"A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug." []	554948	\N	\N	EFO	2	EFO	role	prodrug role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50266	"A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug." []	1137641	\N	\N	EFO	3	EFO	material property	prodrug role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50266	"A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug." []	2020771	\N	\N	EFO	4	EFO	experimental factor	prodrug role
CHEBI:50276	\N	\N	"An inhibitor of bacterial enzymes of the DNA topoisomerases, Type I class that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA." []	CHEBI:50276	"An inhibitor of bacterial enzymes of the DNA topoisomerases, Type I class that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA." []	62604	\N	\N	EFO	0	EFO	topoisomerase I inhibitor	topoisomerase I inhibitor
CHEBI:23924	CHEBI:50276	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:50276	"An inhibitor of bacterial enzymes of the DNA topoisomerases, Type I class that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA." []	202045	\N	\N	EFO	1	EFO	enzyme inhibitor	topoisomerase I inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:50276	"An inhibitor of bacterial enzymes of the DNA topoisomerases, Type I class that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA." []	554949	\N	\N	EFO	2	EFO	biological role	topoisomerase I inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:50276	"An inhibitor of bacterial enzymes of the DNA topoisomerases, Type I class that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA." []	554950	\N	\N	EFO	2	EFO	inhibitor role	topoisomerase I inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50276	"An inhibitor of bacterial enzymes of the DNA topoisomerases, Type I class that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA." []	1137642	\N	\N	EFO	3	EFO	role	topoisomerase I inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50276	"An inhibitor of bacterial enzymes of the DNA topoisomerases, Type I class that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA." []	1137643	\N	\N	EFO	3	EFO	chemical role	topoisomerase I inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50276	"An inhibitor of bacterial enzymes of the DNA topoisomerases, Type I class that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA." []	3175612	\N	\N	EFO	5	EFO	material property	topoisomerase I inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50276	"An inhibitor of bacterial enzymes of the DNA topoisomerases, Type I class that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA." []	2020773	\N	\N	EFO	4	EFO	role	topoisomerase I inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50276	"An inhibitor of bacterial enzymes of the DNA topoisomerases, Type I class that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA." []	4132404	\N	\N	EFO	6	EFO	experimental factor	topoisomerase I inhibitor
CHEBI:50292	\N	\N	"A cadmium salt that has formula CdO4S." []	CHEBI:50292	"A cadmium salt that has formula CdO4S." []	62605	\N	\N	EFO	0	EFO	cadmium sulfate	cadmium sulfate
CHEBI:24431	CHEBI:50292	\N	"" []	CHEBI:50292	"A cadmium salt that has formula CdO4S." []	202046	\N	\N	EFO	1	EFO	chemical entity	cadmium sulfate
EFO:0004415	CHEBI:50292	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:50292	"A cadmium salt that has formula CdO4S." []	202047	\N	\N	EFO	1	EFO	ionic salt	cadmium sulfate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50292	"A cadmium salt that has formula CdO4S." []	554951	\N	\N	EFO	2	EFO	chemical compound	cadmium sulfate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50292	"A cadmium salt that has formula CdO4S." []	1137644	\N	\N	EFO	3	EFO	chemical entity	cadmium sulfate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50292	"A cadmium salt that has formula CdO4S." []	2020774	\N	\N	EFO	4	EFO	material entity	cadmium sulfate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50292	"A cadmium salt that has formula CdO4S." []	3175613	\N	\N	EFO	5	EFO	experimental factor	cadmium sulfate
CHEBI:50295	\N	\N	"A labdane diterpenoid that has formula C22H34O5." []	CHEBI:50295	"A labdane diterpenoid that has formula C22H34O5." []	62606	\N	\N	EFO	0	EFO	1,9-dideoxyforskolin	1,9-dideoxyforskolin
CHEBI:37577	CHEBI:50295	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50295	"A labdane diterpenoid that has formula C22H34O5." []	202048	\N	\N	EFO	1	EFO	chemical compound	1,9-dideoxyforskolin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50295	"A labdane diterpenoid that has formula C22H34O5." []	554952	\N	\N	EFO	2	EFO	chemical entity	1,9-dideoxyforskolin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50295	"A labdane diterpenoid that has formula C22H34O5." []	1137645	\N	\N	EFO	3	EFO	material entity	1,9-dideoxyforskolin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50295	"A labdane diterpenoid that has formula C22H34O5." []	2020775	\N	\N	EFO	4	EFO	experimental factor	1,9-dideoxyforskolin
CHEBI:50370	\N	\N	"A parasympatholytic agent is a substance or activity that reduces the activity of the parasympathetic nervous system.[1] (The parasympathetic nervous system is often colloquially described as the \\"Feed and Breed\\" or \\"Rest and Digest\\" portion of the autonomic nervous system. The parasympathetic nervous system becomes strongly engaged during or after a meal and during times when the body is at rest.)\\nThe term parasympatholytic typically refers to the effect of a drug, although some poisons act to block the parasympathetic nervous system as well. Most drugs with parasympatholytic properties are anticholinergics." []	CHEBI:50370	"A parasympatholytic agent is a substance or activity that reduces the activity of the parasympathetic nervous system.[1] (The parasympathetic nervous system is often colloquially described as the \\"Feed and Breed\\" or \\"Rest and Digest\\" portion of the autonomic nervous system. The parasympathetic nervous system becomes strongly engaged during or after a meal and during times when the body is at rest.)\\nThe term parasympatholytic typically refers to the effect of a drug, although some poisons act to block the parasympathetic nervous system as well. Most drugs with parasympatholytic properties are anticholinergics." []	62607	\N	\N	EFO	0	EFO	parasympatholytic	parasympatholytic
EFO:0001899	CHEBI:50370	\N	"" []	CHEBI:50370	"A parasympatholytic agent is a substance or activity that reduces the activity of the parasympathetic nervous system.[1] (The parasympathetic nervous system is often colloquially described as the \\"Feed and Breed\\" or \\"Rest and Digest\\" portion of the autonomic nervous system. The parasympathetic nervous system becomes strongly engaged during or after a meal and during times when the body is at rest.)\\nThe term parasympatholytic typically refers to the effect of a drug, although some poisons act to block the parasympathetic nervous system as well. Most drugs with parasympatholytic properties are anticholinergics." []	202049	\N	\N	EFO	1	EFO	drug role	parasympatholytic
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50370	"A parasympatholytic agent is a substance or activity that reduces the activity of the parasympathetic nervous system.[1] (The parasympathetic nervous system is often colloquially described as the \\"Feed and Breed\\" or \\"Rest and Digest\\" portion of the autonomic nervous system. The parasympathetic nervous system becomes strongly engaged during or after a meal and during times when the body is at rest.)\\nThe term parasympatholytic typically refers to the effect of a drug, although some poisons act to block the parasympathetic nervous system as well. Most drugs with parasympatholytic properties are anticholinergics." []	554953	\N	\N	EFO	2	EFO	chemical role	parasympatholytic
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50370	"A parasympatholytic agent is a substance or activity that reduces the activity of the parasympathetic nervous system.[1] (The parasympathetic nervous system is often colloquially described as the \\"Feed and Breed\\" or \\"Rest and Digest\\" portion of the autonomic nervous system. The parasympathetic nervous system becomes strongly engaged during or after a meal and during times when the body is at rest.)\\nThe term parasympatholytic typically refers to the effect of a drug, although some poisons act to block the parasympathetic nervous system as well. Most drugs with parasympatholytic properties are anticholinergics." []	1137646	\N	\N	EFO	3	EFO	role	parasympatholytic
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50370	"A parasympatholytic agent is a substance or activity that reduces the activity of the parasympathetic nervous system.[1] (The parasympathetic nervous system is often colloquially described as the \\"Feed and Breed\\" or \\"Rest and Digest\\" portion of the autonomic nervous system. The parasympathetic nervous system becomes strongly engaged during or after a meal and during times when the body is at rest.)\\nThe term parasympatholytic typically refers to the effect of a drug, although some poisons act to block the parasympathetic nervous system as well. Most drugs with parasympatholytic properties are anticholinergics." []	2020776	\N	\N	EFO	4	EFO	material property	parasympatholytic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50370	"A parasympatholytic agent is a substance or activity that reduces the activity of the parasympathetic nervous system.[1] (The parasympathetic nervous system is often colloquially described as the \\"Feed and Breed\\" or \\"Rest and Digest\\" portion of the autonomic nervous system. The parasympathetic nervous system becomes strongly engaged during or after a meal and during times when the body is at rest.)\\nThe term parasympatholytic typically refers to the effect of a drug, although some poisons act to block the parasympathetic nervous system as well. Most drugs with parasympatholytic properties are anticholinergics." []	3175614	\N	\N	EFO	5	EFO	experimental factor	parasympatholytic
CHEBI:50385	\N	\N	"A heme b that has formula C34H32ClFeN4O4." []	CHEBI:50385	"A heme b that has formula C34H32ClFeN4O4." []	62608	\N	\N	EFO	0	EFO	hemin	hemin
CHEBI:37577	CHEBI:50385	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50385	"A heme b that has formula C34H32ClFeN4O4." []	202050	\N	\N	EFO	1	EFO	chemical compound	hemin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50385	"A heme b that has formula C34H32ClFeN4O4." []	554954	\N	\N	EFO	2	EFO	chemical entity	hemin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50385	"A heme b that has formula C34H32ClFeN4O4." []	1137647	\N	\N	EFO	3	EFO	material entity	hemin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50385	"A heme b that has formula C34H32ClFeN4O4." []	2020777	\N	\N	EFO	4	EFO	experimental factor	hemin
CHEBI:50469	\N	\N	"" []	CHEBI:50469	"" []	62609	\N	\N	EFO	0	EFO	phospholipase A2 inhibitor	phospholipase A2 inhibitor
CHEBI:24432	CHEBI:50469	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:50469	"" []	202051	\N	\N	EFO	1	EFO	biological role	phospholipase A2 inhibitor
CHEBI:51086	CHEBI:50469	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50469	"" []	202052	\N	\N	EFO	1	EFO	chemical role	phospholipase A2 inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50469	"" []	554955	\N	\N	EFO	2	EFO	role	phospholipase A2 inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50469	"" []	554956	\N	\N	EFO	2	EFO	role	phospholipase A2 inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50469	"" []	1137648	\N	\N	EFO	3	EFO	material property	phospholipase A2 inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50469	"" []	2020778	\N	\N	EFO	4	EFO	experimental factor	phospholipase A2 inhibitor
CHEBI:50504	\N	\N	"Compound that increase urine volume by increasing the amount of osmotically active solute in the urine. It also increases the osmolarity of plasma." []	CHEBI:50504	"Compound that increase urine volume by increasing the amount of osmotically active solute in the urine. It also increases the osmolarity of plasma." []	62610	\N	\N	EFO	0	EFO	osmotic diuretic	osmotic diuretic
EFO:0001899	CHEBI:50504	\N	"" []	CHEBI:50504	"Compound that increase urine volume by increasing the amount of osmotically active solute in the urine. It also increases the osmolarity of plasma." []	202053	\N	\N	EFO	1	EFO	drug role	osmotic diuretic
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50504	"Compound that increase urine volume by increasing the amount of osmotically active solute in the urine. It also increases the osmolarity of plasma." []	554957	\N	\N	EFO	2	EFO	chemical role	osmotic diuretic
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50504	"Compound that increase urine volume by increasing the amount of osmotically active solute in the urine. It also increases the osmolarity of plasma." []	1137649	\N	\N	EFO	3	EFO	role	osmotic diuretic
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50504	"Compound that increase urine volume by increasing the amount of osmotically active solute in the urine. It also increases the osmolarity of plasma." []	2020779	\N	\N	EFO	4	EFO	material property	osmotic diuretic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50504	"Compound that increase urine volume by increasing the amount of osmotically active solute in the urine. It also increases the osmolarity of plasma." []	3175615	\N	\N	EFO	5	EFO	experimental factor	osmotic diuretic
CHEBI:50505	\N	\N	"Substance that sweeten food, beverages, medications, etc." []	CHEBI:50505	"Substance that sweeten food, beverages, medications, etc." []	62611	\N	\N	EFO	0	EFO	sweetening agent role	sweetening agent role
CHEBI:51086	CHEBI:50505	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50505	"Substance that sweeten food, beverages, medications, etc." []	202054	\N	\N	EFO	1	EFO	chemical role	sweetening agent role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50505	"Substance that sweeten food, beverages, medications, etc." []	554958	\N	\N	EFO	2	EFO	role	sweetening agent role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50505	"Substance that sweeten food, beverages, medications, etc." []	1137650	\N	\N	EFO	3	EFO	material property	sweetening agent role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50505	"Substance that sweeten food, beverages, medications, etc." []	2020780	\N	\N	EFO	4	EFO	experimental factor	sweetening agent role
CHEBI:50514	\N	\N	"Drug used to cause constriction of the blood vessels." []	CHEBI:50514	"Drug used to cause constriction of the blood vessels." []	62612	\N	\N	EFO	0	EFO	vasoconstrictor agent	vasoconstrictor agent
CHEBI:35554	CHEBI:50514	\N	"A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume." []	CHEBI:50514	"Drug used to cause constriction of the blood vessels." []	202055	\N	\N	EFO	1	EFO	cardiovascular drug	vasoconstrictor agent
EFO:0001899	CHEBI:35554	\N	"" []	CHEBI:50514	"Drug used to cause constriction of the blood vessels." []	554959	\N	\N	EFO	2	EFO	drug role	vasoconstrictor agent
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50514	"Drug used to cause constriction of the blood vessels." []	1137651	\N	\N	EFO	3	EFO	chemical role	vasoconstrictor agent
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50514	"Drug used to cause constriction of the blood vessels." []	2020781	\N	\N	EFO	4	EFO	role	vasoconstrictor agent
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50514	"Drug used to cause constriction of the blood vessels." []	3175616	\N	\N	EFO	5	EFO	material property	vasoconstrictor agent
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50514	"Drug used to cause constriction of the blood vessels." []	4386545	\N	\N	EFO	6	EFO	experimental factor	vasoconstrictor agent
CHEBI:50527	\N	\N	"" []	CHEBI:50527	"" []	62613	\N	\N	EFO	0	EFO	arsenic oxide	arsenic oxide
CHEBI:37577	CHEBI:50527	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50527	"" []	202056	\N	\N	EFO	1	EFO	chemical compound	arsenic oxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50527	"" []	554960	\N	\N	EFO	2	EFO	chemical entity	arsenic oxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50527	"" []	1137652	\N	\N	EFO	3	EFO	material entity	arsenic oxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50527	"" []	2020782	\N	\N	EFO	4	EFO	experimental factor	arsenic oxide
CHEBI:50629	\N	\N	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 2." []	CHEBI:50629	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 2." []	62614	\N	\N	EFO	0	EFO	cyclooxygenase 2 inhibitor	cyclooxygenase 2 inhibitor
CHEBI:35544	CHEBI:50629	\N	"A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes." []	CHEBI:50629	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 2." []	202057	\N	\N	EFO	1	EFO	cyclooxygenase inhibitor	cyclooxygenase 2 inhibitor
CHEBI:23924	CHEBI:35544	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:50629	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 2." []	554961	\N	\N	EFO	2	EFO	enzyme inhibitor	cyclooxygenase 2 inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:50629	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 2." []	1137653	\N	\N	EFO	3	EFO	biological role	cyclooxygenase 2 inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:50629	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 2." []	1137654	\N	\N	EFO	3	EFO	inhibitor role	cyclooxygenase 2 inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50629	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 2." []	2020783	\N	\N	EFO	4	EFO	role	cyclooxygenase 2 inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50629	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 2." []	2020784	\N	\N	EFO	4	EFO	chemical role	cyclooxygenase 2 inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50629	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 2." []	4386547	\N	\N	EFO	6	EFO	material property	cyclooxygenase 2 inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50629	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 2." []	3175618	\N	\N	EFO	5	EFO	role	cyclooxygenase 2 inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50629	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 2." []	5180799	\N	\N	EFO	7	EFO	experimental factor	cyclooxygenase 2 inhibitor
CHEBI:50630	\N	\N	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 1." []	CHEBI:50630	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 1." []	62615	\N	\N	EFO	0	EFO	cyclooxygenase 1 inhibitor	cyclooxygenase 1 inhibitor
CHEBI:35544	CHEBI:50630	\N	"A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes." []	CHEBI:50630	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 1." []	202058	\N	\N	EFO	1	EFO	cyclooxygenase inhibitor	cyclooxygenase 1 inhibitor
CHEBI:23924	CHEBI:35544	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:50630	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 1." []	554962	\N	\N	EFO	2	EFO	enzyme inhibitor	cyclooxygenase 1 inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:50630	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 1." []	1137655	\N	\N	EFO	3	EFO	biological role	cyclooxygenase 1 inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:50630	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 1." []	1137656	\N	\N	EFO	3	EFO	inhibitor role	cyclooxygenase 1 inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50630	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 1." []	2020785	\N	\N	EFO	4	EFO	role	cyclooxygenase 1 inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50630	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 1." []	2020786	\N	\N	EFO	4	EFO	chemical role	cyclooxygenase 1 inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50630	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 1." []	4386549	\N	\N	EFO	6	EFO	material property	cyclooxygenase 1 inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50630	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 1." []	3175620	\N	\N	EFO	5	EFO	role	cyclooxygenase 1 inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50630	"A cyclooxygenase inhibitor with specificity for cyclooxygenase 1." []	5180800	\N	\N	EFO	7	EFO	experimental factor	cyclooxygenase 1 inhibitor
CHEBI:50646	\N	\N	"An agent that inhibits bone resorption and/or favor bone mineralization and bone regeneration. Used to heal bone fractures and to treat metabolic bone diseases." []	CHEBI:50646	"An agent that inhibits bone resorption and/or favor bone mineralization and bone regeneration. Used to heal bone fractures and to treat metabolic bone diseases." []	62616	\N	\N	EFO	0	EFO	bone density conservation agent	bone density conservation agent
EFO:0001899	CHEBI:50646	\N	"" []	CHEBI:50646	"An agent that inhibits bone resorption and/or favor bone mineralization and bone regeneration. Used to heal bone fractures and to treat metabolic bone diseases." []	202059	\N	\N	EFO	1	EFO	drug role	bone density conservation agent
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50646	"An agent that inhibits bone resorption and/or favor bone mineralization and bone regeneration. Used to heal bone fractures and to treat metabolic bone diseases." []	554963	\N	\N	EFO	2	EFO	chemical role	bone density conservation agent
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50646	"An agent that inhibits bone resorption and/or favor bone mineralization and bone regeneration. Used to heal bone fractures and to treat metabolic bone diseases." []	1137657	\N	\N	EFO	3	EFO	role	bone density conservation agent
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50646	"An agent that inhibits bone resorption and/or favor bone mineralization and bone regeneration. Used to heal bone fractures and to treat metabolic bone diseases." []	2020787	\N	\N	EFO	4	EFO	material property	bone density conservation agent
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50646	"An agent that inhibits bone resorption and/or favor bone mineralization and bone regeneration. Used to heal bone fractures and to treat metabolic bone diseases." []	3175621	\N	\N	EFO	5	EFO	experimental factor	bone density conservation agent
CHEBI:50648	\N	\N	"" []	CHEBI:50648	"" []	62617	\N	\N	EFO	0	EFO	9-cis-retinoic acid	9-cis-retinoic acid
CHEBI:23888	CHEBI:50648	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:50648	"" []	202060	\N	\N	EFO	1	EFO	drug	9-cis-retinoic acid
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50648	"" []	554964	\N	\N	EFO	2	EFO	chemical compound	9-cis-retinoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50648	"" []	1137658	\N	\N	EFO	3	EFO	chemical entity	9-cis-retinoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50648	"" []	2020788	\N	\N	EFO	4	EFO	material entity	9-cis-retinoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50648	"" []	3175622	\N	\N	EFO	5	EFO	experimental factor	9-cis-retinoic acid
CHEBI:50667	\N	\N	"" []	CHEBI:50667	"" []	62618	\N	\N	EFO	0	EFO	mercaptopurine	mercaptopurine
CHEBI:37577	CHEBI:50667	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50667	"" []	202061	\N	\N	EFO	1	EFO	chemical compound	mercaptopurine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50667	"" []	554965	\N	\N	EFO	2	EFO	chemical entity	mercaptopurine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50667	"" []	1137659	\N	\N	EFO	3	EFO	material entity	mercaptopurine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50667	"" []	2020789	\N	\N	EFO	4	EFO	experimental factor	mercaptopurine
CHEBI:50673	\N	\N	"" []	CHEBI:50673	"" []	62619	\N	\N	EFO	0	EFO	methimazole	methimazole
CHEBI:37577	CHEBI:50673	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50673	"" []	202062	\N	\N	EFO	1	EFO	chemical compound	methimazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50673	"" []	554966	\N	\N	EFO	2	EFO	chemical entity	methimazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50673	"" []	1137660	\N	\N	EFO	3	EFO	material entity	methimazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50673	"" []	2020790	\N	\N	EFO	4	EFO	experimental factor	methimazole
CHEBI:50683	\N	\N	"" []	CHEBI:50683	"" []	62620	\N	\N	EFO	0	EFO	folic acid reductase inhibitor	folic acid reductase inhibitor
CHEBI:24432	CHEBI:50683	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:50683	"" []	202063	\N	\N	EFO	1	EFO	biological role	folic acid reductase inhibitor
CHEBI:51086	CHEBI:50683	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50683	"" []	202064	\N	\N	EFO	1	EFO	chemical role	folic acid reductase inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50683	"" []	554967	\N	\N	EFO	2	EFO	role	folic acid reductase inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50683	"" []	554968	\N	\N	EFO	2	EFO	role	folic acid reductase inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50683	"" []	1137661	\N	\N	EFO	3	EFO	material property	folic acid reductase inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50683	"" []	2020791	\N	\N	EFO	4	EFO	experimental factor	folic acid reductase inhibitor
CHEBI:50694	\N	\N	"" []	CHEBI:50694	"" []	62621	\N	\N	EFO	0	EFO	minocycline	minocycline
CHEBI:37577	CHEBI:50694	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50694	"" []	202065	\N	\N	EFO	1	EFO	chemical compound	minocycline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50694	"" []	554969	\N	\N	EFO	2	EFO	chemical entity	minocycline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50694	"" []	1137662	\N	\N	EFO	3	EFO	material entity	minocycline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50694	"" []	2020792	\N	\N	EFO	4	EFO	experimental factor	minocycline
CHEBI:50733	\N	\N	"A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance." []	CHEBI:50733	"A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance." []	62622	\N	\N	EFO	0	EFO	nutraceutical	nutraceutical
EFO:0001899	CHEBI:50733	\N	"" []	CHEBI:50733	"A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance." []	202066	\N	\N	EFO	1	EFO	drug role	nutraceutical
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50733	"A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance." []	554970	\N	\N	EFO	2	EFO	chemical role	nutraceutical
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50733	"A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance." []	1137663	\N	\N	EFO	3	EFO	role	nutraceutical
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50733	"A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance." []	2020793	\N	\N	EFO	4	EFO	material property	nutraceutical
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50733	"A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance." []	3175623	\N	\N	EFO	5	EFO	experimental factor	nutraceutical
CHEBI:50739	\N	\N	"A substance that possess antiestrogenic actions but can also produce estrogenic effects as well. It acts as complete or partial agonist or as antagonist. It can be either steroidal or nonsteroidal in structure." []	CHEBI:50739	"A substance that possess antiestrogenic actions but can also produce estrogenic effects as well. It acts as complete or partial agonist or as antagonist. It can be either steroidal or nonsteroidal in structure." []	62623	\N	\N	EFO	0	EFO	estrogen receptor modulator	estrogen receptor modulator
EFO:0001899	CHEBI:50739	\N	"" []	CHEBI:50739	"A substance that possess antiestrogenic actions but can also produce estrogenic effects as well. It acts as complete or partial agonist or as antagonist. It can be either steroidal or nonsteroidal in structure." []	202067	\N	\N	EFO	1	EFO	drug role	estrogen receptor modulator
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50739	"A substance that possess antiestrogenic actions but can also produce estrogenic effects as well. It acts as complete or partial agonist or as antagonist. It can be either steroidal or nonsteroidal in structure." []	554971	\N	\N	EFO	2	EFO	chemical role	estrogen receptor modulator
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50739	"A substance that possess antiestrogenic actions but can also produce estrogenic effects as well. It acts as complete or partial agonist or as antagonist. It can be either steroidal or nonsteroidal in structure." []	1137664	\N	\N	EFO	3	EFO	role	estrogen receptor modulator
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50739	"A substance that possess antiestrogenic actions but can also produce estrogenic effects as well. It acts as complete or partial agonist or as antagonist. It can be either steroidal or nonsteroidal in structure." []	2020794	\N	\N	EFO	4	EFO	material property	estrogen receptor modulator
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50739	"A substance that possess antiestrogenic actions but can also produce estrogenic effects as well. It acts as complete or partial agonist or as antagonist. It can be either steroidal or nonsteroidal in structure." []	3175624	\N	\N	EFO	5	EFO	experimental factor	estrogen receptor modulator
CHEBI:50750	\N	\N	"An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands." []	CHEBI:50750	"An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands." []	62624	\N	\N	EFO	0	EFO	topoisomerase II inhibitor	topoisomerase II inhibitor
CHEBI:23924	CHEBI:50750	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:50750	"An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands." []	202068	\N	\N	EFO	1	EFO	enzyme inhibitor	topoisomerase II inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:50750	"An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands." []	554972	\N	\N	EFO	2	EFO	biological role	topoisomerase II inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:50750	"An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands." []	554973	\N	\N	EFO	2	EFO	inhibitor role	topoisomerase II inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50750	"An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands." []	1137665	\N	\N	EFO	3	EFO	role	topoisomerase II inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50750	"An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands." []	1137666	\N	\N	EFO	3	EFO	chemical role	topoisomerase II inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50750	"An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands." []	3175626	\N	\N	EFO	5	EFO	material property	topoisomerase II inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50750	"An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands." []	2020796	\N	\N	EFO	4	EFO	role	topoisomerase II inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50750	"An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands." []	4132405	\N	\N	EFO	6	EFO	experimental factor	topoisomerase II inhibitor
CHEBI:50790	\N	\N	"" []	CHEBI:50790	"" []	62625	\N	\N	EFO	0	EFO	aromatase inhibitor	aromatase inhibitor
CHEBI:23924	CHEBI:50790	\N	"A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." []	CHEBI:50790	"" []	202069	\N	\N	EFO	1	EFO	enzyme inhibitor	aromatase inhibitor
CHEBI:24432	CHEBI:23924	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:50790	"" []	554974	\N	\N	EFO	2	EFO	biological role	aromatase inhibitor
CHEBI:35222	CHEBI:23924	\N	"A substance that diminishes the rate of a chemical reaction." []	CHEBI:50790	"" []	554975	\N	\N	EFO	2	EFO	inhibitor role	aromatase inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50790	"" []	1137667	\N	\N	EFO	3	EFO	role	aromatase inhibitor
CHEBI:51086	CHEBI:35222	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50790	"" []	1137668	\N	\N	EFO	3	EFO	chemical role	aromatase inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50790	"" []	3175628	\N	\N	EFO	5	EFO	material property	aromatase inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50790	"" []	2020798	\N	\N	EFO	4	EFO	role	aromatase inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50790	"" []	4132406	\N	\N	EFO	6	EFO	experimental factor	aromatase inhibitor
CHEBI:50792	\N	\N	"An antagonist at the estrogen receptor." []	CHEBI:50792	"An antagonist at the estrogen receptor." []	62626	\N	\N	EFO	0	EFO	estrogen receptor antagonist role	estrogen receptor antagonist role
CHEBI:51086	CHEBI:50792	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50792	"An antagonist at the estrogen receptor." []	202070	\N	\N	EFO	1	EFO	chemical role	estrogen receptor antagonist role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50792	"An antagonist at the estrogen receptor." []	554976	\N	\N	EFO	2	EFO	role	estrogen receptor antagonist role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50792	"An antagonist at the estrogen receptor." []	1137669	\N	\N	EFO	3	EFO	material property	estrogen receptor antagonist role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50792	"An antagonist at the estrogen receptor." []	2020799	\N	\N	EFO	4	EFO	experimental factor	estrogen receptor antagonist role
CHEBI:50842	\N	\N	"A pyridazinone that has formula C12H9ClF3N3O." []	CHEBI:50842	"A pyridazinone that has formula C12H9ClF3N3O." []	62627	\N	\N	EFO	0	EFO	norflurazon	norflurazon
CHEBI:37577	CHEBI:50842	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50842	"A pyridazinone that has formula C12H9ClF3N3O." []	202071	\N	\N	EFO	1	EFO	chemical compound	norflurazon
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50842	"A pyridazinone that has formula C12H9ClF3N3O." []	554977	\N	\N	EFO	2	EFO	chemical entity	norflurazon
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50842	"A pyridazinone that has formula C12H9ClF3N3O." []	1137670	\N	\N	EFO	3	EFO	material entity	norflurazon
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50842	"A pyridazinone that has formula C12H9ClF3N3O." []	2020800	\N	\N	EFO	4	EFO	experimental factor	norflurazon
CHEBI:50845	\N	\N	"Tetracycline in which the 5beta-hydrogen is replaced by a hydroxy group, while the 6alpha-hydroxy group is replaced by hydrogen. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis." []	CHEBI:50845	"Tetracycline in which the 5beta-hydrogen is replaced by a hydroxy group, while the 6alpha-hydroxy group is replaced by hydrogen. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis." []	62628	\N	\N	EFO	0	EFO	doxycycline	doxycycline
CHEBI:23888	CHEBI:50845	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:50845	"Tetracycline in which the 5beta-hydrogen is replaced by a hydroxy group, while the 6alpha-hydroxy group is replaced by hydrogen. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis." []	202072	\N	\N	EFO	1	EFO	drug	doxycycline
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50845	"Tetracycline in which the 5beta-hydrogen is replaced by a hydroxy group, while the 6alpha-hydroxy group is replaced by hydrogen. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis." []	554978	\N	\N	EFO	2	EFO	chemical compound	doxycycline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50845	"Tetracycline in which the 5beta-hydrogen is replaced by a hydroxy group, while the 6alpha-hydroxy group is replaced by hydrogen. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis." []	1137671	\N	\N	EFO	3	EFO	chemical entity	doxycycline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50845	"Tetracycline in which the 5beta-hydrogen is replaced by a hydroxy group, while the 6alpha-hydroxy group is replaced by hydrogen. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis." []	2020801	\N	\N	EFO	4	EFO	material entity	doxycycline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50845	"Tetracycline in which the 5beta-hydrogen is replaced by a hydroxy group, while the 6alpha-hydroxy group is replaced by hydrogen. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis." []	3175629	\N	\N	EFO	5	EFO	experimental factor	doxycycline
CHEBI:50855	\N	\N	"" []	CHEBI:50855	"" []	62629	\N	\N	EFO	0	EFO	antiatherogenic agent	antiatherogenic agent
EFO:0001899	CHEBI:50855	\N	"" []	CHEBI:50855	"" []	202073	\N	\N	EFO	1	EFO	drug role	antiatherogenic agent
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50855	"" []	554979	\N	\N	EFO	2	EFO	chemical role	antiatherogenic agent
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50855	"" []	1137672	\N	\N	EFO	3	EFO	role	antiatherogenic agent
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50855	"" []	2020802	\N	\N	EFO	4	EFO	material property	antiatherogenic agent
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50855	"" []	3175630	\N	\N	EFO	5	EFO	experimental factor	antiatherogenic agent
CHEBI:50862	\N	\N	"A naphthalene that has formula C31H33N3O11." []	CHEBI:50862	"A naphthalene that has formula C31H33N3O11." []	62630	\N	\N	EFO	0	EFO	azinomycin B	azinomycin B
CHEBI:37577	CHEBI:50862	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50862	"A naphthalene that has formula C31H33N3O11." []	202074	\N	\N	EFO	1	EFO	chemical compound	azinomycin B
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50862	"A naphthalene that has formula C31H33N3O11." []	554980	\N	\N	EFO	2	EFO	chemical entity	azinomycin B
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50862	"A naphthalene that has formula C31H33N3O11." []	1137673	\N	\N	EFO	3	EFO	material entity	azinomycin B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50862	"A naphthalene that has formula C31H33N3O11." []	2020803	\N	\N	EFO	4	EFO	experimental factor	azinomycin B
CHEBI:50864	\N	\N	"An agent which overcomes insulin resistance by activation of the peroxisome proliferator activated receptor gamma (PPAR-gamma)." []	CHEBI:50864	"An agent which overcomes insulin resistance by activation of the peroxisome proliferator activated receptor gamma (PPAR-gamma)." []	62631	\N	\N	EFO	0	EFO	insulin-sensitizing drug	insulin-sensitizing drug
EFO:0001899	CHEBI:50864	\N	"" []	CHEBI:50864	"An agent which overcomes insulin resistance by activation of the peroxisome proliferator activated receptor gamma (PPAR-gamma)." []	202075	\N	\N	EFO	1	EFO	drug role	insulin-sensitizing drug
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50864	"An agent which overcomes insulin resistance by activation of the peroxisome proliferator activated receptor gamma (PPAR-gamma)." []	554981	\N	\N	EFO	2	EFO	chemical role	insulin-sensitizing drug
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50864	"An agent which overcomes insulin resistance by activation of the peroxisome proliferator activated receptor gamma (PPAR-gamma)." []	1137674	\N	\N	EFO	3	EFO	role	insulin-sensitizing drug
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50864	"An agent which overcomes insulin resistance by activation of the peroxisome proliferator activated receptor gamma (PPAR-gamma)." []	2020804	\N	\N	EFO	4	EFO	material property	insulin-sensitizing drug
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50864	"An agent which overcomes insulin resistance by activation of the peroxisome proliferator activated receptor gamma (PPAR-gamma)." []	3175631	\N	\N	EFO	5	EFO	experimental factor	insulin-sensitizing drug
CHEBI:50866	\N	\N	"A 1,2-dithiole that has formula C3H2S3." []	CHEBI:50866	"A 1,2-dithiole that has formula C3H2S3." []	62632	\N	\N	EFO	0	EFO	3H-1,2-dithiole-3-thione	3H-1,2-dithiole-3-thione
CHEBI:37577	CHEBI:50866	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50866	"A 1,2-dithiole that has formula C3H2S3." []	202076	\N	\N	EFO	1	EFO	chemical compound	3H-1,2-dithiole-3-thione
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50866	"A 1,2-dithiole that has formula C3H2S3." []	554982	\N	\N	EFO	2	EFO	chemical entity	3H-1,2-dithiole-3-thione
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50866	"A 1,2-dithiole that has formula C3H2S3." []	1137675	\N	\N	EFO	3	EFO	material entity	3H-1,2-dithiole-3-thione
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50866	"A 1,2-dithiole that has formula C3H2S3." []	2020805	\N	\N	EFO	4	EFO	experimental factor	3H-1,2-dithiole-3-thione
CHEBI:50867	\N	\N	"A ring assembly that has formula C13H14Cl2O3." []	CHEBI:50867	"A ring assembly that has formula C13H14Cl2O3." []	62633	\N	\N	EFO	0	EFO	ciprofibrate	ciprofibrate
CHEBI:23888	CHEBI:50867	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:50867	"A ring assembly that has formula C13H14Cl2O3." []	202077	\N	\N	EFO	1	EFO	drug	ciprofibrate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50867	"A ring assembly that has formula C13H14Cl2O3." []	554983	\N	\N	EFO	2	EFO	chemical compound	ciprofibrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50867	"A ring assembly that has formula C13H14Cl2O3." []	1137676	\N	\N	EFO	3	EFO	chemical entity	ciprofibrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50867	"A ring assembly that has formula C13H14Cl2O3." []	2020806	\N	\N	EFO	4	EFO	material entity	ciprofibrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50867	"A ring assembly that has formula C13H14Cl2O3." []	3175632	\N	\N	EFO	5	EFO	experimental factor	ciprofibrate
CHEBI:50885	\N	\N	"A mineralocorticoid that has formula C21H29FO5." []	CHEBI:50885	"A mineralocorticoid that has formula C21H29FO5." []	62634	\N	\N	EFO	0	EFO	fludrocortisone	fludrocortisone
CHEBI:24621	CHEBI:50885	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:50885	"A mineralocorticoid that has formula C21H29FO5." []	202078	\N	\N	EFO	1	EFO	hormone	fludrocortisone
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50885	"A mineralocorticoid that has formula C21H29FO5." []	554984	\N	\N	EFO	2	EFO	chemical compound	fludrocortisone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50885	"A mineralocorticoid that has formula C21H29FO5." []	1137677	\N	\N	EFO	3	EFO	chemical entity	fludrocortisone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50885	"A mineralocorticoid that has formula C21H29FO5." []	2020807	\N	\N	EFO	4	EFO	material entity	fludrocortisone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50885	"A mineralocorticoid that has formula C21H29FO5." []	3175633	\N	\N	EFO	5	EFO	experimental factor	fludrocortisone
CHEBI:50904	\N	\N	"A role played by a chemical compound in the onset of allergic reaction and interacting with molecular pathways involved in allergy." []	CHEBI:50904	"A role played by a chemical compound in the onset of allergic reaction and interacting with molecular pathways involved in allergy." []	62635	\N	\N	EFO	0	EFO	allergenic agent	allergenic agent
CHEBI:37577	CHEBI:50904	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:50904	"A role played by a chemical compound in the onset of allergic reaction and interacting with molecular pathways involved in allergy." []	202079	\N	\N	EFO	1	EFO	chemical compound	allergenic agent
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:50904	"A role played by a chemical compound in the onset of allergic reaction and interacting with molecular pathways involved in allergy." []	554985	\N	\N	EFO	2	EFO	chemical entity	allergenic agent
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:50904	"A role played by a chemical compound in the onset of allergic reaction and interacting with molecular pathways involved in allergy." []	1137678	\N	\N	EFO	3	EFO	material entity	allergenic agent
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50904	"A role played by a chemical compound in the onset of allergic reaction and interacting with molecular pathways involved in allergy." []	2020808	\N	\N	EFO	4	EFO	experimental factor	allergenic agent
CHEBI:50919	\N	\N	"A drug used to prevent nausea or vomiting. An antiemetic may act by a wide range of mechanisms: it might affect the medullary control centers (the vomiting center and the chemoreceptive trigger zone) or affect the peripheral receptors." []	CHEBI:50919	"A drug used to prevent nausea or vomiting. An antiemetic may act by a wide range of mechanisms: it might affect the medullary control centers (the vomiting center and the chemoreceptive trigger zone) or affect the peripheral receptors." []	62636	\N	\N	EFO	0	EFO	antiemetic	antiemetic
EFO:0001899	CHEBI:50919	\N	"" []	CHEBI:50919	"A drug used to prevent nausea or vomiting. An antiemetic may act by a wide range of mechanisms: it might affect the medullary control centers (the vomiting center and the chemoreceptive trigger zone) or affect the peripheral receptors." []	202080	\N	\N	EFO	1	EFO	drug role	antiemetic
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:50919	"A drug used to prevent nausea or vomiting. An antiemetic may act by a wide range of mechanisms: it might affect the medullary control centers (the vomiting center and the chemoreceptive trigger zone) or affect the peripheral receptors." []	554986	\N	\N	EFO	2	EFO	chemical role	antiemetic
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:50919	"A drug used to prevent nausea or vomiting. An antiemetic may act by a wide range of mechanisms: it might affect the medullary control centers (the vomiting center and the chemoreceptive trigger zone) or affect the peripheral receptors." []	1137679	\N	\N	EFO	3	EFO	role	antiemetic
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:50919	"A drug used to prevent nausea or vomiting. An antiemetic may act by a wide range of mechanisms: it might affect the medullary control centers (the vomiting center and the chemoreceptive trigger zone) or affect the peripheral receptors." []	2020809	\N	\N	EFO	4	EFO	material property	antiemetic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:50919	"A drug used to prevent nausea or vomiting. An antiemetic may act by a wide range of mechanisms: it might affect the medullary control centers (the vomiting center and the chemoreceptive trigger zone) or affect the peripheral receptors." []	3175634	\N	\N	EFO	5	EFO	experimental factor	antiemetic
CHEBI:5098	\N	\N	"" []	CHEBI:5098	"" []	62637	\N	\N	EFO	0	EFO	flucloxacillin	flucloxacillin
CHEBI:23888	CHEBI:5098	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:5098	"" []	202081	\N	\N	EFO	1	EFO	drug	flucloxacillin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5098	"" []	554987	\N	\N	EFO	2	EFO	chemical compound	flucloxacillin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5098	"" []	1137680	\N	\N	EFO	3	EFO	chemical entity	flucloxacillin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5098	"" []	2020810	\N	\N	EFO	4	EFO	material entity	flucloxacillin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5098	"" []	3175635	\N	\N	EFO	5	EFO	experimental factor	flucloxacillin
CHEBI:51065	\N	\N	"A drug that binds to and activates dopamine receptors." []	CHEBI:51065	"A drug that binds to and activates dopamine receptors." []	62638	\N	\N	EFO	0	EFO	dopamine agonist	dopamine agonist
EFO:0001899	CHEBI:51065	\N	"" []	CHEBI:51065	"A drug that binds to and activates dopamine receptors." []	202082	\N	\N	EFO	1	EFO	drug role	dopamine agonist
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:51065	"A drug that binds to and activates dopamine receptors." []	554988	\N	\N	EFO	2	EFO	chemical role	dopamine agonist
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:51065	"A drug that binds to and activates dopamine receptors." []	1137681	\N	\N	EFO	3	EFO	role	dopamine agonist
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:51065	"A drug that binds to and activates dopamine receptors." []	2020811	\N	\N	EFO	4	EFO	material property	dopamine agonist
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:51065	"A drug that binds to and activates dopamine receptors." []	3175636	\N	\N	EFO	5	EFO	experimental factor	dopamine agonist
CHEBI:51086	\N	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:51086	"A role played by the molecular entity or part thereof within a chemical context." []	62639	\N	\N	EFO	0	EFO	chemical role	chemical role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:51086	"A role played by the molecular entity or part thereof within a chemical context." []	202083	\N	\N	EFO	1	EFO	role	chemical role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:51086	"A role played by the molecular entity or part thereof within a chemical context." []	554989	\N	\N	EFO	2	EFO	material property	chemical role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:51086	"A role played by the molecular entity or part thereof within a chemical context." []	1137682	\N	\N	EFO	3	EFO	experimental factor	chemical role
CHEBI:5118	\N	\N	"\\"A benzenoid aromatic compound that has formula C17H18F3NO.\\" []" []	CHEBI:5118	"\\"A benzenoid aromatic compound that has formula C17H18F3NO.\\" []" []	62640	\N	\N	EFO	0	EFO	fluoxetine	fluoxetine
CHEBI:23888	CHEBI:5118	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:5118	"\\"A benzenoid aromatic compound that has formula C17H18F3NO.\\" []" []	202084	\N	\N	EFO	1	EFO	drug	fluoxetine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5118	"\\"A benzenoid aromatic compound that has formula C17H18F3NO.\\" []" []	554990	\N	\N	EFO	2	EFO	chemical compound	fluoxetine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5118	"\\"A benzenoid aromatic compound that has formula C17H18F3NO.\\" []" []	1137683	\N	\N	EFO	3	EFO	chemical entity	fluoxetine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5118	"\\"A benzenoid aromatic compound that has formula C17H18F3NO.\\" []" []	2020812	\N	\N	EFO	4	EFO	material entity	fluoxetine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5118	"\\"A benzenoid aromatic compound that has formula C17H18F3NO.\\" []" []	3175637	\N	\N	EFO	5	EFO	experimental factor	fluoxetine
CHEBI:5123	\N	\N	"" []	CHEBI:5123	"" []	62641	\N	\N	EFO	0	EFO	fluphenazine	fluphenazine
CHEBI:37577	CHEBI:5123	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5123	"" []	202085	\N	\N	EFO	1	EFO	chemical compound	fluphenazine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5123	"" []	554991	\N	\N	EFO	2	EFO	chemical entity	fluphenazine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5123	"" []	1137684	\N	\N	EFO	3	EFO	material entity	fluphenazine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5123	"" []	2020813	\N	\N	EFO	4	EFO	experimental factor	fluphenazine
CHEBI:5132	\N	\N	"" []	CHEBI:5132	"" []	62642	\N	\N	EFO	0	EFO	flutamide	flutamide
CHEBI:37577	CHEBI:5132	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5132	"" []	202086	\N	\N	EFO	1	EFO	chemical compound	flutamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5132	"" []	554992	\N	\N	EFO	2	EFO	chemical entity	flutamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5132	"" []	1137685	\N	\N	EFO	3	EFO	material entity	flutamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5132	"" []	2020814	\N	\N	EFO	4	EFO	experimental factor	flutamide
CHEBI:51953	\N	\N	"" []	CHEBI:51953	"" []	62643	\N	\N	EFO	0	EFO	polyamide	polyamide
EFO:0004417	CHEBI:51953	\N	"" []	CHEBI:51953	"" []	202087	\N	\N	EFO	1	EFO	amide	polyamide
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:51953	"" []	554993	\N	\N	EFO	2	EFO	chemical compound	polyamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:51953	"" []	1137686	\N	\N	EFO	3	EFO	chemical entity	polyamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:51953	"" []	2020815	\N	\N	EFO	4	EFO	material entity	polyamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:51953	"" []	3175638	\N	\N	EFO	5	EFO	experimental factor	polyamide
CHEBI:52010	\N	\N	"" []	CHEBI:52010	"" []	62644	\N	\N	EFO	0	EFO	chlorphenamine	chlorphenamine
CHEBI:37577	CHEBI:52010	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:52010	"" []	202088	\N	\N	EFO	1	EFO	chemical compound	chlorphenamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:52010	"" []	554994	\N	\N	EFO	2	EFO	chemical entity	chlorphenamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:52010	"" []	1137687	\N	\N	EFO	3	EFO	material entity	chlorphenamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:52010	"" []	2020816	\N	\N	EFO	4	EFO	experimental factor	chlorphenamine
CHEBI:52172	\N	\N	"An organofluorine compound that has formula C28H22F3N7O." []	CHEBI:52172	"An organofluorine compound that has formula C28H22F3N7O." []	62645	\N	\N	EFO	0	EFO	nilotinib	nilotinib
CHEBI:23888	CHEBI:52172	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:52172	"An organofluorine compound that has formula C28H22F3N7O." []	202089	\N	\N	EFO	1	EFO	drug	nilotinib
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:52172	"An organofluorine compound that has formula C28H22F3N7O." []	554995	\N	\N	EFO	2	EFO	chemical compound	nilotinib
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:52172	"An organofluorine compound that has formula C28H22F3N7O." []	1137688	\N	\N	EFO	3	EFO	chemical entity	nilotinib
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:52172	"An organofluorine compound that has formula C28H22F3N7O." []	2020817	\N	\N	EFO	4	EFO	material entity	nilotinib
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:52172	"An organofluorine compound that has formula C28H22F3N7O." []	3175639	\N	\N	EFO	5	EFO	experimental factor	nilotinib
CHEBI:52289	\N	\N	"An organic heteropentacyclic compound that has formula C23H24O8 and has biological role specific, covalent inhibitor of phosphoinositide 3-kinases (PI3Ks)." []	CHEBI:52289	"An organic heteropentacyclic compound that has formula C23H24O8 and has biological role specific, covalent inhibitor of phosphoinositide 3-kinases (PI3Ks)." []	62646	\N	\N	EFO	0	EFO	wortmannin	wortmannin
CHEBI:24431	CHEBI:52289	\N	"" []	CHEBI:52289	"An organic heteropentacyclic compound that has formula C23H24O8 and has biological role specific, covalent inhibitor of phosphoinositide 3-kinases (PI3Ks)." []	202090	\N	\N	EFO	1	EFO	chemical entity	wortmannin
CHEBI:37577	CHEBI:52289	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:52289	"An organic heteropentacyclic compound that has formula C23H24O8 and has biological role specific, covalent inhibitor of phosphoinositide 3-kinases (PI3Ks)." []	202091	\N	\N	EFO	1	EFO	chemical compound	wortmannin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:52289	"An organic heteropentacyclic compound that has formula C23H24O8 and has biological role specific, covalent inhibitor of phosphoinositide 3-kinases (PI3Ks)." []	554996	\N	\N	EFO	2	EFO	chemical entity	wortmannin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:52289	"An organic heteropentacyclic compound that has formula C23H24O8 and has biological role specific, covalent inhibitor of phosphoinositide 3-kinases (PI3Ks)." []	1137689	\N	\N	EFO	3	EFO	material entity	wortmannin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:52289	"An organic heteropentacyclic compound that has formula C23H24O8 and has biological role specific, covalent inhibitor of phosphoinositide 3-kinases (PI3Ks)." []	2020818	\N	\N	EFO	4	EFO	experimental factor	wortmannin
CHEBI:52640	\N	\N	"" []	CHEBI:52640	"" []	62647	\N	\N	EFO	0	EFO	N-acylethanolamine	N-acylethanolamine
CHEBI:37577	CHEBI:52640	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:52640	"" []	202092	\N	\N	EFO	1	EFO	chemical compound	N-acylethanolamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:52640	"" []	554997	\N	\N	EFO	2	EFO	chemical entity	N-acylethanolamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:52640	"" []	1137690	\N	\N	EFO	3	EFO	material entity	N-acylethanolamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:52640	"" []	2020819	\N	\N	EFO	4	EFO	experimental factor	N-acylethanolamine
CHEBI:52717	\N	\N	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	CHEBI:52717	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	62648	\N	\N	EFO	0	EFO	bortezomib	bortezomib
CHEBI:23888	CHEBI:52717	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:52717	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	202093	\N	\N	EFO	1	EFO	drug	bortezomib
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:52717	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	554998	\N	\N	EFO	2	EFO	chemical compound	bortezomib
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:52717	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	1137691	\N	\N	EFO	3	EFO	chemical entity	bortezomib
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:52717	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	2020820	\N	\N	EFO	4	EFO	material entity	bortezomib
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:52717	"Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst." []	3175640	\N	\N	EFO	5	EFO	experimental factor	bortezomib
CHEBI:5296	\N	\N	"" []	CHEBI:5296	"" []	62649	\N	\N	EFO	0	EFO	gemfibrozil	gemfibrozil
CHEBI:37577	CHEBI:5296	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5296	"" []	202094	\N	\N	EFO	1	EFO	chemical compound	gemfibrozil
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5296	"" []	554999	\N	\N	EFO	2	EFO	chemical entity	gemfibrozil
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5296	"" []	1137692	\N	\N	EFO	3	EFO	material entity	gemfibrozil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5296	"" []	2020821	\N	\N	EFO	4	EFO	experimental factor	gemfibrozil
CHEBI:529996	\N	\N	"A mycotoxin, which is cell permeable and a potent inhibitor of actin polymerisation and DNA synthesis." []	CHEBI:529996	"A mycotoxin, which is cell permeable and a potent inhibitor of actin polymerisation and DNA synthesis." []	62650	\N	\N	EFO	0	EFO	cytochalasin D	cytochalasin D
CHEBI:37577	CHEBI:529996	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:529996	"A mycotoxin, which is cell permeable and a potent inhibitor of actin polymerisation and DNA synthesis." []	202095	\N	\N	EFO	1	EFO	chemical compound	cytochalasin D
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:529996	"A mycotoxin, which is cell permeable and a potent inhibitor of actin polymerisation and DNA synthesis." []	555000	\N	\N	EFO	2	EFO	chemical entity	cytochalasin D
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:529996	"A mycotoxin, which is cell permeable and a potent inhibitor of actin polymerisation and DNA synthesis." []	1137693	\N	\N	EFO	3	EFO	material entity	cytochalasin D
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:529996	"A mycotoxin, which is cell permeable and a potent inhibitor of actin polymerisation and DNA synthesis." []	2020822	\N	\N	EFO	4	EFO	experimental factor	cytochalasin D
CHEBI:53003	\N	\N	"" []	CHEBI:53003	"" []	62651	\N	\N	EFO	0	EFO	naphthalene-1,5-diamine	naphthalene-1,5-diamine
EFO:0004417	CHEBI:53003	\N	"" []	CHEBI:53003	"" []	202096	\N	\N	EFO	1	EFO	amide	naphthalene-1,5-diamine
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53003	"" []	555001	\N	\N	EFO	2	EFO	chemical compound	naphthalene-1,5-diamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53003	"" []	1137694	\N	\N	EFO	3	EFO	chemical entity	naphthalene-1,5-diamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53003	"" []	2020823	\N	\N	EFO	4	EFO	material entity	naphthalene-1,5-diamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53003	"" []	3175641	\N	\N	EFO	5	EFO	experimental factor	naphthalene-1,5-diamine
CHEBI:53049	\N	\N	"A fluorobenzene compound with two nitro substituents in the 2- and 4-positions." []	CHEBI:53049	"A fluorobenzene compound with two nitro substituents in the 2- and 4-positions." []	62652	\N	\N	EFO	0	EFO	1-fluoro-2,4-dinitrobenzene	1-fluoro-2,4-dinitrobenzene
CHEBI:37577	CHEBI:53049	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53049	"A fluorobenzene compound with two nitro substituents in the 2- and 4-positions." []	202097	\N	\N	EFO	1	EFO	chemical compound	1-fluoro-2,4-dinitrobenzene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53049	"A fluorobenzene compound with two nitro substituents in the 2- and 4-positions." []	555002	\N	\N	EFO	2	EFO	chemical entity	1-fluoro-2,4-dinitrobenzene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53049	"A fluorobenzene compound with two nitro substituents in the 2- and 4-positions." []	1137695	\N	\N	EFO	3	EFO	material entity	1-fluoro-2,4-dinitrobenzene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53049	"A fluorobenzene compound with two nitro substituents in the 2- and 4-positions." []	2020824	\N	\N	EFO	4	EFO	experimental factor	1-fluoro-2,4-dinitrobenzene
CHEBI:53109	\N	\N	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	CHEBI:53109	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	62653	\N	\N	EFO	0	EFO	Bandrowski's base	Bandrowski's base
CHEBI:37577	CHEBI:53109	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53109	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	202098	\N	\N	EFO	1	EFO	chemical compound	Bandrowski's base
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53109	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	555003	\N	\N	EFO	2	EFO	chemical entity	Bandrowski's base
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53109	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	1137696	\N	\N	EFO	3	EFO	material entity	Bandrowski's base
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53109	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	2020825	\N	\N	EFO	4	EFO	experimental factor	Bandrowski's base
CHEBI:53110	\N	\N	"" []	CHEBI:53110	"" []	62654	\N	\N	EFO	0	EFO	4,5-dianilinophthalimide	4,5-dianilinophthalimide
EFO:0004417	CHEBI:53110	\N	"" []	CHEBI:53110	"" []	202099	\N	\N	EFO	1	EFO	amide	4,5-dianilinophthalimide
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53110	"" []	555004	\N	\N	EFO	2	EFO	chemical compound	4,5-dianilinophthalimide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53110	"" []	1137697	\N	\N	EFO	3	EFO	chemical entity	4,5-dianilinophthalimide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53110	"" []	2020826	\N	\N	EFO	4	EFO	material entity	4,5-dianilinophthalimide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53110	"" []	3175642	\N	\N	EFO	5	EFO	experimental factor	4,5-dianilinophthalimide
CHEBI:53115	\N	\N	"Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group." []	CHEBI:53115	"Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group." []	62655	\N	\N	EFO	0	EFO	8-(3-chlorostyryl) caffeine	8-(3-chlorostyryl) caffeine
CHEBI:23888	CHEBI:53115	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:53115	"Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group." []	202100	\N	\N	EFO	1	EFO	drug	8-(3-chlorostyryl) caffeine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53115	"Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group." []	555005	\N	\N	EFO	2	EFO	chemical compound	8-(3-chlorostyryl) caffeine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53115	"Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group." []	1137698	\N	\N	EFO	3	EFO	chemical entity	8-(3-chlorostyryl) caffeine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53115	"Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group." []	2020827	\N	\N	EFO	4	EFO	material entity	8-(3-chlorostyryl) caffeine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53115	"Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group." []	3175643	\N	\N	EFO	5	EFO	experimental factor	8-(3-chlorostyryl) caffeine
CHEBI:53181	\N	\N	"" []	CHEBI:53181	"" []	62656	\N	\N	EFO	0	EFO	pristane	pristane
CHEBI:37577	CHEBI:53181	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53181	"" []	202101	\N	\N	EFO	1	EFO	chemical compound	pristane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53181	"" []	555006	\N	\N	EFO	2	EFO	chemical entity	pristane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53181	"" []	1137699	\N	\N	EFO	3	EFO	material entity	pristane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53181	"" []	2020828	\N	\N	EFO	4	EFO	experimental factor	pristane
CHEBI:53424	\N	\N	"A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 and a single terminal is capped by a dodecanoyl group." []	CHEBI:53424	"A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 and a single terminal is capped by a dodecanoyl group." []	62657	\N	\N	EFO	0	EFO	polysorbate 20	polysorbate 20
CHEBI:37577	CHEBI:53424	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53424	"A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 and a single terminal is capped by a dodecanoyl group." []	202102	\N	\N	EFO	1	EFO	chemical compound	polysorbate 20
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53424	"A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 and a single terminal is capped by a dodecanoyl group." []	555007	\N	\N	EFO	2	EFO	chemical entity	polysorbate 20
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53424	"A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 and a single terminal is capped by a dodecanoyl group." []	1137700	\N	\N	EFO	3	EFO	material entity	polysorbate 20
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53424	"A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 and a single terminal is capped by a dodecanoyl group." []	2020829	\N	\N	EFO	4	EFO	experimental factor	polysorbate 20
CHEBI:53425	\N	\N	"" []	CHEBI:53425	"" []	62658	\N	\N	EFO	0	EFO	polysorbate 60	polysorbate 60
CHEBI:37577	CHEBI:53425	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53425	"" []	202103	\N	\N	EFO	1	EFO	chemical compound	polysorbate 60
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53425	"" []	555008	\N	\N	EFO	2	EFO	chemical entity	polysorbate 60
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53425	"" []	1137701	\N	\N	EFO	3	EFO	material entity	polysorbate 60
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53425	"" []	2020830	\N	\N	EFO	4	EFO	experimental factor	polysorbate 60
CHEBI:53439	\N	\N	"" []	CHEBI:53439	"" []	62659	\N	\N	EFO	0	EFO	calcineurin	calcineurin
CHEBI:23888	CHEBI:53439	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:53439	"" []	202104	\N	\N	EFO	1	EFO	drug	calcineurin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53439	"" []	555009	\N	\N	EFO	2	EFO	chemical compound	calcineurin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53439	"" []	1137702	\N	\N	EFO	3	EFO	chemical entity	calcineurin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53439	"" []	2020831	\N	\N	EFO	4	EFO	material entity	calcineurin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53439	"" []	3175644	\N	\N	EFO	5	EFO	experimental factor	calcineurin
CHEBI:53444	\N	\N	"" []	CHEBI:53444	"" []	62660	\N	\N	EFO	0	EFO	potassium dichromate	potassium dichromate
EFO:0004415	CHEBI:53444	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:53444	"" []	202105	\N	\N	EFO	1	EFO	ionic salt	potassium dichromate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53444	"" []	555010	\N	\N	EFO	2	EFO	chemical compound	potassium dichromate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53444	"" []	1137703	\N	\N	EFO	3	EFO	chemical entity	potassium dichromate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53444	"" []	2020832	\N	\N	EFO	4	EFO	material entity	potassium dichromate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53444	"" []	3175645	\N	\N	EFO	5	EFO	experimental factor	potassium dichromate
CHEBI:53448	\N	\N	"A (1->4)-beta-D-glucan compound formed by methylating cellulose through exposure to NaOH/CH3Cl." []	CHEBI:53448	"A (1->4)-beta-D-glucan compound formed by methylating cellulose through exposure to NaOH/CH3Cl." []	62661	\N	\N	EFO	0	EFO	methyl cellulose	methyl cellulose
CHEBI:37577	CHEBI:53448	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53448	"A (1->4)-beta-D-glucan compound formed by methylating cellulose through exposure to NaOH/CH3Cl." []	202106	\N	\N	EFO	1	EFO	chemical compound	methyl cellulose
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53448	"A (1->4)-beta-D-glucan compound formed by methylating cellulose through exposure to NaOH/CH3Cl." []	555011	\N	\N	EFO	2	EFO	chemical entity	methyl cellulose
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53448	"A (1->4)-beta-D-glucan compound formed by methylating cellulose through exposure to NaOH/CH3Cl." []	1137704	\N	\N	EFO	3	EFO	material entity	methyl cellulose
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53448	"A (1->4)-beta-D-glucan compound formed by methylating cellulose through exposure to NaOH/CH3Cl." []	2020833	\N	\N	EFO	4	EFO	experimental factor	methyl cellulose
CHEBI:53452	\N	\N	"" []	CHEBI:53452	"" []	62662	\N	\N	EFO	0	EFO	N-(1-naphthyl)ethylenediamine dihydrochloride	N-(1-naphthyl)ethylenediamine dihydrochloride
EFO:0004415	CHEBI:53452	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:53452	"" []	202107	\N	\N	EFO	1	EFO	ionic salt	N-(1-naphthyl)ethylenediamine dihydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53452	"" []	555012	\N	\N	EFO	2	EFO	chemical compound	N-(1-naphthyl)ethylenediamine dihydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53452	"" []	1137705	\N	\N	EFO	3	EFO	chemical entity	N-(1-naphthyl)ethylenediamine dihydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53452	"" []	2020834	\N	\N	EFO	4	EFO	material entity	N-(1-naphthyl)ethylenediamine dihydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53452	"" []	3175646	\N	\N	EFO	5	EFO	experimental factor	N-(1-naphthyl)ethylenediamine dihydrochloride
CHEBI:53461	\N	\N	"" []	CHEBI:53461	"" []	62663	\N	\N	EFO	0	EFO	neuropeptide S	neuropeptide S
CHEBI:37577	CHEBI:53461	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53461	"" []	202108	\N	\N	EFO	1	EFO	chemical compound	neuropeptide S
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53461	"" []	555013	\N	\N	EFO	2	EFO	chemical entity	neuropeptide S
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53461	"" []	1137706	\N	\N	EFO	3	EFO	material entity	neuropeptide S
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53461	"" []	2020835	\N	\N	EFO	4	EFO	experimental factor	neuropeptide S
CHEBI:53542	\N	\N	"" []	CHEBI:53542	"" []	62664	\N	\N	EFO	0	EFO	nickel chloride hexahydrate	nickel chloride hexahydrate
CHEBI:37577	CHEBI:53542	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53542	"" []	202109	\N	\N	EFO	1	EFO	chemical compound	nickel chloride hexahydrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53542	"" []	555014	\N	\N	EFO	2	EFO	chemical entity	nickel chloride hexahydrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53542	"" []	1137707	\N	\N	EFO	3	EFO	material entity	nickel chloride hexahydrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53542	"" []	2020836	\N	\N	EFO	4	EFO	experimental factor	nickel chloride hexahydrate
CHEBI:53766	\N	\N	"" []	CHEBI:53766	"" []	62665	\N	\N	EFO	0	EFO	acenocoumarol	acenocoumarol
CHEBI:23888	CHEBI:53766	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:53766	"" []	202110	\N	\N	EFO	1	EFO	drug	acenocoumarol
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:53766	"" []	555015	\N	\N	EFO	2	EFO	chemical compound	acenocoumarol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:53766	"" []	1137708	\N	\N	EFO	3	EFO	chemical entity	acenocoumarol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:53766	"" []	2020837	\N	\N	EFO	4	EFO	material entity	acenocoumarol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53766	"" []	3175647	\N	\N	EFO	5	EFO	experimental factor	acenocoumarol
CHEBI:53784	\N	\N	"" []	CHEBI:53784	"" []	62666	\N	\N	EFO	0	EFO	antispasmodic	antispasmodic
EFO:0001899	CHEBI:53784	\N	"" []	CHEBI:53784	"" []	202111	\N	\N	EFO	1	EFO	drug role	antispasmodic
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:53784	"" []	555016	\N	\N	EFO	2	EFO	chemical role	antispasmodic
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:53784	"" []	1137709	\N	\N	EFO	3	EFO	role	antispasmodic
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:53784	"" []	2020838	\N	\N	EFO	4	EFO	material property	antispasmodic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:53784	"" []	3175648	\N	\N	EFO	5	EFO	experimental factor	antispasmodic
CHEBI:5417	\N	\N	"" []	CHEBI:5417	"" []	62667	\N	\N	EFO	0	EFO	glucosamine	glucosamine
EFO:0004417	CHEBI:5417	\N	"" []	CHEBI:5417	"" []	202112	\N	\N	EFO	1	EFO	amide	glucosamine
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5417	"" []	555017	\N	\N	EFO	2	EFO	chemical compound	glucosamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5417	"" []	1137710	\N	\N	EFO	3	EFO	chemical entity	glucosamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5417	"" []	2020839	\N	\N	EFO	4	EFO	material entity	glucosamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5417	"" []	3175649	\N	\N	EFO	5	EFO	experimental factor	glucosamine
CHEBI:5441	\N	\N	"" []	CHEBI:5441	"" []	62668	\N	\N	EFO	0	EFO	glyburide	glyburide
CHEBI:37577	CHEBI:5441	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5441	"" []	202113	\N	\N	EFO	1	EFO	chemical compound	glyburide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5441	"" []	555018	\N	\N	EFO	2	EFO	chemical entity	glyburide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5441	"" []	1137711	\N	\N	EFO	3	EFO	material entity	glyburide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5441	"" []	2020840	\N	\N	EFO	4	EFO	experimental factor	glyburide
CHEBI:55379	\N	\N	"" []	CHEBI:55379	"" []	62669	\N	\N	EFO	0	EFO	camphorsulfonic acid	camphorsulfonic acid
CHEBI:37577	CHEBI:55379	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:55379	"" []	202114	\N	\N	EFO	1	EFO	chemical compound	camphorsulfonic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:55379	"" []	555019	\N	\N	EFO	2	EFO	chemical entity	camphorsulfonic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:55379	"" []	1137712	\N	\N	EFO	3	EFO	material entity	camphorsulfonic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:55379	"" []	2020841	\N	\N	EFO	4	EFO	experimental factor	camphorsulfonic acid
CHEBI:556075	\N	\N	"" []	CHEBI:556075	"" []	62670	\N	\N	EFO	0	EFO	radicicol	radicicol
CHEBI:23888	CHEBI:556075	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:556075	"" []	202115	\N	\N	EFO	1	EFO	drug	radicicol
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:556075	"" []	555020	\N	\N	EFO	2	EFO	chemical compound	radicicol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:556075	"" []	1137713	\N	\N	EFO	3	EFO	chemical entity	radicicol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:556075	"" []	2020842	\N	\N	EFO	4	EFO	material entity	radicicol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:556075	"" []	3175650	\N	\N	EFO	5	EFO	experimental factor	radicicol
CHEBI:5613	\N	\N	"A hydroxypiperidine that has formula C21H23ClFNO2." []	CHEBI:5613	"A hydroxypiperidine that has formula C21H23ClFNO2." []	62671	\N	\N	EFO	0	EFO	haloperidol	haloperidol
CHEBI:23888	CHEBI:5613	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:5613	"A hydroxypiperidine that has formula C21H23ClFNO2." []	202116	\N	\N	EFO	1	EFO	drug	haloperidol
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5613	"A hydroxypiperidine that has formula C21H23ClFNO2." []	555021	\N	\N	EFO	2	EFO	chemical compound	haloperidol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5613	"A hydroxypiperidine that has formula C21H23ClFNO2." []	1137714	\N	\N	EFO	3	EFO	chemical entity	haloperidol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5613	"A hydroxypiperidine that has formula C21H23ClFNO2." []	2020843	\N	\N	EFO	4	EFO	material entity	haloperidol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5613	"A hydroxypiperidine that has formula C21H23ClFNO2." []	3175651	\N	\N	EFO	5	EFO	experimental factor	haloperidol
CHEBI:5615	\N	\N	"A haloalkane that has formula C2HBrClF3." []	CHEBI:5615	"A haloalkane that has formula C2HBrClF3." []	62672	\N	\N	EFO	0	EFO	halothane	halothane
CHEBI:23888	CHEBI:5615	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:5615	"A haloalkane that has formula C2HBrClF3." []	202117	\N	\N	EFO	1	EFO	drug	halothane
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5615	"A haloalkane that has formula C2HBrClF3." []	555022	\N	\N	EFO	2	EFO	chemical compound	halothane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5615	"A haloalkane that has formula C2HBrClF3." []	1137715	\N	\N	EFO	3	EFO	chemical entity	halothane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5615	"A haloalkane that has formula C2HBrClF3." []	2020844	\N	\N	EFO	4	EFO	material entity	halothane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5615	"A haloalkane that has formula C2HBrClF3." []	3175652	\N	\N	EFO	5	EFO	experimental factor	halothane
CHEBI:5692	\N	\N	"The sixth of the seven cervical vertebrae." []	CHEBI:5692	"The sixth of the seven cervical vertebrae." []	62673	\N	\N	EFO	0	EFO	hexachlorobenzene	hexachlorobenzene
CHEBI:37577	CHEBI:5692	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5692	"The sixth of the seven cervical vertebrae." []	202118	\N	\N	EFO	1	EFO	chemical compound	hexachlorobenzene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5692	"The sixth of the seven cervical vertebrae." []	555023	\N	\N	EFO	2	EFO	chemical entity	hexachlorobenzene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5692	"The sixth of the seven cervical vertebrae." []	1137716	\N	\N	EFO	3	EFO	material entity	hexachlorobenzene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5692	"The sixth of the seven cervical vertebrae." []	2020845	\N	\N	EFO	4	EFO	experimental factor	hexachlorobenzene
CHEBI:5818	\N	\N	"" []	CHEBI:5818	"" []	62674	\N	\N	EFO	0	EFO	hydroxyzine	hydroxyzine
CHEBI:37577	CHEBI:5818	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5818	"" []	202119	\N	\N	EFO	1	EFO	chemical compound	hydroxyzine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5818	"" []	555024	\N	\N	EFO	2	EFO	chemical entity	hydroxyzine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5818	"" []	1137717	\N	\N	EFO	3	EFO	material entity	hydroxyzine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5818	"" []	2020846	\N	\N	EFO	4	EFO	experimental factor	hydroxyzine
CHEBI:585948	\N	\N	"" []	CHEBI:585948	"" []	62675	\N	\N	EFO	0	EFO	felodipine	felodipine
CHEBI:37577	CHEBI:585948	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:585948	"" []	202120	\N	\N	EFO	1	EFO	chemical compound	felodipine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:585948	"" []	555025	\N	\N	EFO	2	EFO	chemical entity	felodipine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:585948	"" []	1137718	\N	\N	EFO	3	EFO	material entity	felodipine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:585948	"" []	2020847	\N	\N	EFO	4	EFO	experimental factor	felodipine
CHEBI:5870	\N	\N	"" []	CHEBI:5870	"" []	62676	\N	\N	EFO	0	EFO	imidacloprid	imidacloprid
CHEBI:37577	CHEBI:5870	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5870	"" []	202121	\N	\N	EFO	1	EFO	chemical compound	imidacloprid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5870	"" []	555026	\N	\N	EFO	2	EFO	chemical entity	imidacloprid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5870	"" []	1137719	\N	\N	EFO	3	EFO	material entity	imidacloprid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5870	"" []	2020848	\N	\N	EFO	4	EFO	experimental factor	imidacloprid
CHEBI:58994	\N	\N	"\\"The monohydrate of (+)-catechin.\\" []" []	CHEBI:58994	"\\"The monohydrate of (+)-catechin.\\" []" []	62677	\N	\N	EFO	0	EFO	(+)-catechin monohydrate	(+)-catechin monohydrate
CHEBI:37577	CHEBI:58994	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:58994	"\\"The monohydrate of (+)-catechin.\\" []" []	202122	\N	\N	EFO	1	EFO	chemical compound	(+)-catechin monohydrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:58994	"\\"The monohydrate of (+)-catechin.\\" []" []	555027	\N	\N	EFO	2	EFO	chemical entity	(+)-catechin monohydrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:58994	"\\"The monohydrate of (+)-catechin.\\" []" []	1137720	\N	\N	EFO	3	EFO	material entity	(+)-catechin monohydrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:58994	"\\"The monohydrate of (+)-catechin.\\" []" []	2020849	\N	\N	EFO	4	EFO	experimental factor	(+)-catechin monohydrate
CHEBI:59163	\N	\N	"A substance used as an indicator of a biological state." []	CHEBI:59163	"A substance used as an indicator of a biological state." []	62678	\N	\N	EFO	0	EFO	biomarker	biomarker
CHEBI:24432	CHEBI:59163	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:59163	"A substance used as an indicator of a biological state." []	202123	\N	\N	EFO	1	EFO	biological role	biomarker
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:59163	"A substance used as an indicator of a biological state." []	555028	\N	\N	EFO	2	EFO	role	biomarker
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:59163	"A substance used as an indicator of a biological state." []	1137721	\N	\N	EFO	3	EFO	material property	biomarker
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:59163	"A substance used as an indicator of a biological state." []	2020850	\N	\N	EFO	4	EFO	experimental factor	biomarker
CHEBI:59219	\N	\N	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	CHEBI:59219	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	62679	\N	\N	EFO	0	EFO	caerulein	caerulein
CHEBI:37577	CHEBI:59219	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:59219	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	202124	\N	\N	EFO	1	EFO	chemical compound	caerulein
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:59219	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	555029	\N	\N	EFO	2	EFO	chemical entity	caerulein
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:59219	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	1137722	\N	\N	EFO	3	EFO	material entity	caerulein
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:59219	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	2020851	\N	\N	EFO	4	EFO	experimental factor	caerulein
CHEBI:5931	\N	\N	"" []	CHEBI:5931	"" []	62680	\N	\N	EFO	0	EFO	insulin	insulin
CHEBI:23888	CHEBI:5931	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:5931	"" []	202125	\N	\N	EFO	1	EFO	drug	insulin
CHEBI:24621	CHEBI:5931	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:5931	"" []	202126	\N	\N	EFO	1	EFO	hormone	insulin
CHEBI:36080	CHEBI:5931	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	CHEBI:5931	"" []	202127	\N	\N	EFO	1	EFO	protein	insulin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5931	"" []	555030	\N	\N	EFO	2	EFO	chemical compound	insulin
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5931	"" []	555031	\N	\N	EFO	2	EFO	chemical compound	insulin
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:5931	"" []	555032	\N	\N	EFO	2	EFO	chemical compound	insulin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:5931	"" []	1137723	\N	\N	EFO	3	EFO	chemical entity	insulin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:5931	"" []	2020852	\N	\N	EFO	4	EFO	material entity	insulin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:5931	"" []	3175653	\N	\N	EFO	5	EFO	experimental factor	insulin
CHEBI:59517	\N	\N	"" []	CHEBI:59517	"" []	62681	\N	\N	EFO	0	EFO	DNA synthesis inhibitor	DNA synthesis inhibitor
CHEBI:24432	CHEBI:59517	\N	"A role played by the molecular entity or part thereof within a biological context." []	CHEBI:59517	"" []	202128	\N	\N	EFO	1	EFO	biological role	DNA synthesis inhibitor
EFO:0001899	CHEBI:59517	\N	"" []	CHEBI:59517	"" []	202129	\N	\N	EFO	1	EFO	drug role	DNA synthesis inhibitor
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:59517	"" []	555033	\N	\N	EFO	2	EFO	role	DNA synthesis inhibitor
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:59517	"" []	555034	\N	\N	EFO	2	EFO	chemical role	DNA synthesis inhibitor
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:59517	"" []	2020854	\N	\N	EFO	4	EFO	material property	DNA synthesis inhibitor
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:59517	"" []	1137725	\N	\N	EFO	3	EFO	role	DNA synthesis inhibitor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:59517	"" []	2999165	\N	\N	EFO	5	EFO	experimental factor	DNA synthesis inhibitor
CHEBI:59695	\N	\N	"The hydrochloride salt of cyproheptadine. Note that the drug named cyproheptadine hydrochloride generally refers to cyproheptadine hydrochloride sesquihydrate." []	CHEBI:59695	"The hydrochloride salt of cyproheptadine. Note that the drug named cyproheptadine hydrochloride generally refers to cyproheptadine hydrochloride sesquihydrate." []	62682	\N	\N	EFO	0	EFO	cyproheptadine hydrochloride	cyproheptadine hydrochloride
EFO:0004415	CHEBI:59695	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:59695	"The hydrochloride salt of cyproheptadine. Note that the drug named cyproheptadine hydrochloride generally refers to cyproheptadine hydrochloride sesquihydrate." []	202130	\N	\N	EFO	1	EFO	ionic salt	cyproheptadine hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:59695	"The hydrochloride salt of cyproheptadine. Note that the drug named cyproheptadine hydrochloride generally refers to cyproheptadine hydrochloride sesquihydrate." []	555035	\N	\N	EFO	2	EFO	chemical compound	cyproheptadine hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:59695	"The hydrochloride salt of cyproheptadine. Note that the drug named cyproheptadine hydrochloride generally refers to cyproheptadine hydrochloride sesquihydrate." []	1137726	\N	\N	EFO	3	EFO	chemical entity	cyproheptadine hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:59695	"The hydrochloride salt of cyproheptadine. Note that the drug named cyproheptadine hydrochloride generally refers to cyproheptadine hydrochloride sesquihydrate." []	2020855	\N	\N	EFO	4	EFO	material entity	cyproheptadine hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:59695	"The hydrochloride salt of cyproheptadine. Note that the drug named cyproheptadine hydrochloride generally refers to cyproheptadine hydrochloride sesquihydrate." []	3175654	\N	\N	EFO	5	EFO	experimental factor	cyproheptadine hydrochloride
CHEBI:6015	\N	\N	"An organofluorine compound that has formula C3H2ClF5O." []	CHEBI:6015	"An organofluorine compound that has formula C3H2ClF5O." []	62683	\N	\N	EFO	0	EFO	isoflurane	isoflurane
CHEBI:23888	CHEBI:6015	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:6015	"An organofluorine compound that has formula C3H2ClF5O." []	202131	\N	\N	EFO	1	EFO	drug	isoflurane
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6015	"An organofluorine compound that has formula C3H2ClF5O." []	555036	\N	\N	EFO	2	EFO	chemical compound	isoflurane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6015	"An organofluorine compound that has formula C3H2ClF5O." []	1137727	\N	\N	EFO	3	EFO	chemical entity	isoflurane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6015	"An organofluorine compound that has formula C3H2ClF5O." []	2020856	\N	\N	EFO	4	EFO	material entity	isoflurane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6015	"An organofluorine compound that has formula C3H2ClF5O." []	3175655	\N	\N	EFO	5	EFO	experimental factor	isoflurane
CHEBI:60151	\N	\N	"" []	CHEBI:60151	"" []	62684	\N	\N	EFO	0	EFO	oxidised LDL	oxidised LDL
CHEBI:37577	CHEBI:60151	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:60151	"" []	202132	\N	\N	EFO	1	EFO	chemical compound	oxidised LDL
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:60151	"" []	555037	\N	\N	EFO	2	EFO	chemical entity	oxidised LDL
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:60151	"" []	1137728	\N	\N	EFO	3	EFO	material entity	oxidised LDL
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:60151	"" []	2020857	\N	\N	EFO	4	EFO	experimental factor	oxidised LDL
CHEBI:6030	\N	\N	"" []	CHEBI:6030	"" []	62685	\N	\N	EFO	0	EFO	isoniazide	isoniazide
CHEBI:37577	CHEBI:6030	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6030	"" []	202133	\N	\N	EFO	1	EFO	chemical compound	isoniazide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6030	"" []	555038	\N	\N	EFO	2	EFO	chemical entity	isoniazide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6030	"" []	1137729	\N	\N	EFO	3	EFO	material entity	isoniazide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6030	"" []	2020858	\N	\N	EFO	4	EFO	experimental factor	isoniazide
CHEBI:6067	\N	\N	"A retinoic acid that has formula C20H28O2." []	CHEBI:6067	"A retinoic acid that has formula C20H28O2." []	62686	\N	\N	EFO	0	EFO	isotretinoin	isotretinoin
CHEBI:23888	CHEBI:6067	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:6067	"A retinoic acid that has formula C20H28O2." []	202134	\N	\N	EFO	1	EFO	drug	isotretinoin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6067	"A retinoic acid that has formula C20H28O2." []	555039	\N	\N	EFO	2	EFO	chemical compound	isotretinoin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6067	"A retinoic acid that has formula C20H28O2." []	1137730	\N	\N	EFO	3	EFO	chemical entity	isotretinoin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6067	"A retinoic acid that has formula C20H28O2." []	2020859	\N	\N	EFO	4	EFO	material entity	isotretinoin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6067	"A retinoic acid that has formula C20H28O2." []	3175656	\N	\N	EFO	5	EFO	experimental factor	isotretinoin
CHEBI:6078	\N	\N	"" []	CHEBI:6078	"" []	62687	\N	\N	EFO	0	EFO	ivermectin	ivermectin
CHEBI:23888	CHEBI:6078	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:6078	"" []	202135	\N	\N	EFO	1	EFO	drug	ivermectin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6078	"" []	555040	\N	\N	EFO	2	EFO	chemical compound	ivermectin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6078	"" []	1137731	\N	\N	EFO	3	EFO	chemical entity	ivermectin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6078	"" []	2020860	\N	\N	EFO	4	EFO	material entity	ivermectin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6078	"" []	3175657	\N	\N	EFO	5	EFO	experimental factor	ivermectin
CHEBI:60815	\N	\N	"" []	CHEBI:60815	"" []	62688	\N	\N	EFO	0	EFO	lysobisphosphatidic acid	lysobisphosphatidic acid
CHEBI:37577	CHEBI:60815	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:60815	"" []	202136	\N	\N	EFO	1	EFO	chemical compound	lysobisphosphatidic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:60815	"" []	555041	\N	\N	EFO	2	EFO	chemical entity	lysobisphosphatidic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:60815	"" []	1137732	\N	\N	EFO	3	EFO	material entity	lysobisphosphatidic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:60815	"" []	2020861	\N	\N	EFO	4	EFO	experimental factor	lysobisphosphatidic acid
CHEBI:61057	\N	\N	"" []	CHEBI:61057	"" []	62689	\N	\N	EFO	0	EFO	tacrolimus hydrate	tacrolimus hydrate
CHEBI:37577	CHEBI:61057	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:61057	"" []	202137	\N	\N	EFO	1	EFO	chemical compound	tacrolimus hydrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:61057	"" []	555042	\N	\N	EFO	2	EFO	chemical entity	tacrolimus hydrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:61057	"" []	1137733	\N	\N	EFO	3	EFO	material entity	tacrolimus hydrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:61057	"" []	2020862	\N	\N	EFO	4	EFO	experimental factor	tacrolimus hydrate
CHEBI:61058	\N	\N	"" []	CHEBI:61058	"" []	62690	\N	\N	EFO	0	EFO	alpha-methyl-L-dopa	alpha-methyl-L-dopa
CHEBI:37577	CHEBI:61058	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:61058	"" []	202138	\N	\N	EFO	1	EFO	chemical compound	alpha-methyl-L-dopa
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:61058	"" []	555043	\N	\N	EFO	2	EFO	chemical entity	alpha-methyl-L-dopa
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:61058	"" []	1137734	\N	\N	EFO	3	EFO	material entity	alpha-methyl-L-dopa
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:61058	"" []	2020863	\N	\N	EFO	4	EFO	experimental factor	alpha-methyl-L-dopa
CHEBI:61204	\N	\N	"Any straight-chain, C22 fatty acid having five C=C double bonds." []	CHEBI:61204	"Any straight-chain, C22 fatty acid having five C=C double bonds." []	62691	\N	\N	EFO	0	EFO	docosapentaenoic acid	docosapentaenoic acid
CHEBI:35366	CHEBI:61204	\N	"Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." []	CHEBI:61204	"Any straight-chain, C22 fatty acid having five C=C double bonds." []	202139	\N	\N	EFO	1	EFO	fatty acid {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	docosapentaenoic acid
CHEBI:18059	CHEBI:35366	\N	"A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)" []	CHEBI:61204	"Any straight-chain, C22 fatty acid having five C=C double bonds." []	555044	\N	\N	EFO	2	EFO	lipid	docosapentaenoic acid
EFO:0004416	CHEBI:35366	\N	"" []	CHEBI:61204	"Any straight-chain, C22 fatty acid having five C=C double bonds." []	555045	\N	\N	EFO	2	EFO	acid	docosapentaenoic acid
CHEBI:37577	CHEBI:18059	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:61204	"Any straight-chain, C22 fatty acid having five C=C double bonds." []	1137735	\N	\N	EFO	3	EFO	chemical compound	docosapentaenoic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:61204	"Any straight-chain, C22 fatty acid having five C=C double bonds." []	1137736	\N	\N	EFO	3	EFO	chemical compound	docosapentaenoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:61204	"Any straight-chain, C22 fatty acid having five C=C double bonds." []	2020864	\N	\N	EFO	4	EFO	chemical entity	docosapentaenoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:61204	"Any straight-chain, C22 fatty acid having five C=C double bonds." []	3175658	\N	\N	EFO	5	EFO	material entity	docosapentaenoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:61204	"Any straight-chain, C22 fatty acid having five C=C double bonds." []	4386550	\N	\N	EFO	6	EFO	experimental factor	docosapentaenoic acid
CHEBI:61276	\N	\N	"\\"A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide.\\" []" []	CHEBI:61276	"\\"A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide.\\" []" []	62692	\N	\N	EFO	0	EFO	scopolamine methobromide	scopolamine methobromide
CHEBI:23888	CHEBI:61276	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:61276	"\\"A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide.\\" []" []	202140	\N	\N	EFO	1	EFO	drug	scopolamine methobromide
EFO:0004415	CHEBI:61276	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:61276	"\\"A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide.\\" []" []	202141	\N	\N	EFO	1	EFO	ionic salt	scopolamine methobromide
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:61276	"\\"A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide.\\" []" []	555046	\N	\N	EFO	2	EFO	chemical compound	scopolamine methobromide
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:61276	"\\"A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide.\\" []" []	555047	\N	\N	EFO	2	EFO	chemical compound	scopolamine methobromide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:61276	"\\"A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide.\\" []" []	1137737	\N	\N	EFO	3	EFO	chemical entity	scopolamine methobromide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:61276	"\\"A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide.\\" []" []	2020865	\N	\N	EFO	4	EFO	material entity	scopolamine methobromide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:61276	"\\"A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide.\\" []" []	3175659	\N	\N	EFO	5	EFO	experimental factor	scopolamine methobromide
CHEBI:6198	\N	\N	"" []	CHEBI:6198	"" []	62693	\N	\N	EFO	0	EFO	(S)-azetidine-2-carboxylic acid	(S)-azetidine-2-carboxylic acid
CHEBI:37577	CHEBI:6198	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6198	"" []	202142	\N	\N	EFO	1	EFO	chemical compound	(S)-azetidine-2-carboxylic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6198	"" []	555048	\N	\N	EFO	2	EFO	chemical entity	(S)-azetidine-2-carboxylic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6198	"" []	1137738	\N	\N	EFO	3	EFO	material entity	(S)-azetidine-2-carboxylic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6198	"" []	2020866	\N	\N	EFO	4	EFO	experimental factor	(S)-azetidine-2-carboxylic acid
CHEBI:62533	\N	\N	"" []	CHEBI:62533	"" []	62694	\N	\N	EFO	0	EFO	oligogalacturonide	oligogalacturonide
CHEBI:37577	CHEBI:62533	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:62533	"" []	202143	\N	\N	EFO	1	EFO	chemical compound	oligogalacturonide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:62533	"" []	555049	\N	\N	EFO	2	EFO	chemical entity	oligogalacturonide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:62533	"" []	1137739	\N	\N	EFO	3	EFO	material entity	oligogalacturonide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:62533	"" []	2020867	\N	\N	EFO	4	EFO	experimental factor	oligogalacturonide
CHEBI:62946	\N	\N	"\\"An inorganic sulfate salt obtained by reaction of sulfuric acid with two equivalents of ammonia. A high-melting (decomposes above 280degreeC) white solid which is very soluble in water (70.6 g/100 g water at 0degreeC; 103.8 g/100 g water at 100degreeC), it is widely used as a fertilizer for alkaline soils.\\" []" []	CHEBI:62946	"\\"An inorganic sulfate salt obtained by reaction of sulfuric acid with two equivalents of ammonia. A high-melting (decomposes above 280degreeC) white solid which is very soluble in water (70.6 g/100 g water at 0degreeC; 103.8 g/100 g water at 100degreeC), it is widely used as a fertilizer for alkaline soils.\\" []" []	62695	\N	\N	EFO	0	EFO	ammonium sulfate	ammonium sulfate
EFO:0004415	CHEBI:62946	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:62946	"\\"An inorganic sulfate salt obtained by reaction of sulfuric acid with two equivalents of ammonia. A high-melting (decomposes above 280degreeC) white solid which is very soluble in water (70.6 g/100 g water at 0degreeC; 103.8 g/100 g water at 100degreeC), it is widely used as a fertilizer for alkaline soils.\\" []" []	202144	\N	\N	EFO	1	EFO	ionic salt	ammonium sulfate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:62946	"\\"An inorganic sulfate salt obtained by reaction of sulfuric acid with two equivalents of ammonia. A high-melting (decomposes above 280degreeC) white solid which is very soluble in water (70.6 g/100 g water at 0degreeC; 103.8 g/100 g water at 100degreeC), it is widely used as a fertilizer for alkaline soils.\\" []" []	555050	\N	\N	EFO	2	EFO	chemical compound	ammonium sulfate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:62946	"\\"An inorganic sulfate salt obtained by reaction of sulfuric acid with two equivalents of ammonia. A high-melting (decomposes above 280degreeC) white solid which is very soluble in water (70.6 g/100 g water at 0degreeC; 103.8 g/100 g water at 100degreeC), it is widely used as a fertilizer for alkaline soils.\\" []" []	1137740	\N	\N	EFO	3	EFO	chemical entity	ammonium sulfate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:62946	"\\"An inorganic sulfate salt obtained by reaction of sulfuric acid with two equivalents of ammonia. A high-melting (decomposes above 280degreeC) white solid which is very soluble in water (70.6 g/100 g water at 0degreeC; 103.8 g/100 g water at 100degreeC), it is widely used as a fertilizer for alkaline soils.\\" []" []	2020868	\N	\N	EFO	4	EFO	material entity	ammonium sulfate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:62946	"\\"An inorganic sulfate salt obtained by reaction of sulfuric acid with two equivalents of ammonia. A high-melting (decomposes above 280degreeC) white solid which is very soluble in water (70.6 g/100 g water at 0degreeC; 103.8 g/100 g water at 100degreeC), it is widely used as a fertilizer for alkaline soils.\\" []" []	3175660	\N	\N	EFO	5	EFO	experimental factor	ammonium sulfate
CHEBI:62982	\N	\N	"\\"The ammonium salt of phosphoric acid (molar ratio 1:1).\\" []" []	CHEBI:62982	"\\"The ammonium salt of phosphoric acid (molar ratio 1:1).\\" []" []	62696	\N	\N	EFO	0	EFO	ammonium phosphate	ammonium phosphate
EFO:0004415	CHEBI:62982	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:62982	"\\"The ammonium salt of phosphoric acid (molar ratio 1:1).\\" []" []	202145	\N	\N	EFO	1	EFO	ionic salt	ammonium phosphate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:62982	"\\"The ammonium salt of phosphoric acid (molar ratio 1:1).\\" []" []	555051	\N	\N	EFO	2	EFO	chemical compound	ammonium phosphate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:62982	"\\"The ammonium salt of phosphoric acid (molar ratio 1:1).\\" []" []	1137741	\N	\N	EFO	3	EFO	chemical entity	ammonium phosphate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:62982	"\\"The ammonium salt of phosphoric acid (molar ratio 1:1).\\" []" []	2020869	\N	\N	EFO	4	EFO	material entity	ammonium phosphate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:62982	"\\"The ammonium salt of phosphoric acid (molar ratio 1:1).\\" []" []	3175661	\N	\N	EFO	5	EFO	experimental factor	ammonium phosphate
CHEBI:63038	\N	\N	"\\"The ammonium salt of nitric acid.\\" []" []	CHEBI:63038	"\\"The ammonium salt of nitric acid.\\" []" []	62697	\N	\N	EFO	0	EFO	ammonium nitrate	ammonium nitrate
EFO:0004415	CHEBI:63038	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:63038	"\\"The ammonium salt of nitric acid.\\" []" []	202146	\N	\N	EFO	1	EFO	ionic salt	ammonium nitrate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63038	"\\"The ammonium salt of nitric acid.\\" []" []	555052	\N	\N	EFO	2	EFO	chemical compound	ammonium nitrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63038	"\\"The ammonium salt of nitric acid.\\" []" []	1137742	\N	\N	EFO	3	EFO	chemical entity	ammonium nitrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63038	"\\"The ammonium salt of nitric acid.\\" []" []	2020870	\N	\N	EFO	4	EFO	material entity	ammonium nitrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63038	"\\"The ammonium salt of nitric acid.\\" []" []	3175662	\N	\N	EFO	5	EFO	experimental factor	ammonium nitrate
CHEBI:63039	\N	\N	"\\"The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions.\\" []" []	CHEBI:63039	"\\"The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions.\\" []" []	62698	\N	\N	EFO	0	EFO	caesium chloride	caesium chloride
CHEBI:23888	CHEBI:63039	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:63039	"\\"The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions.\\" []" []	202147	\N	\N	EFO	1	EFO	drug	caesium chloride
EFO:0004415	CHEBI:63039	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:63039	"\\"The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions.\\" []" []	202148	\N	\N	EFO	1	EFO	ionic salt	caesium chloride
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63039	"\\"The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions.\\" []" []	555053	\N	\N	EFO	2	EFO	chemical compound	caesium chloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63039	"\\"The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions.\\" []" []	555054	\N	\N	EFO	2	EFO	chemical compound	caesium chloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63039	"\\"The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions.\\" []" []	1137743	\N	\N	EFO	3	EFO	chemical entity	caesium chloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63039	"\\"The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions.\\" []" []	2020871	\N	\N	EFO	4	EFO	material entity	caesium chloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63039	"\\"The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions.\\" []" []	3175663	\N	\N	EFO	5	EFO	experimental factor	caesium chloride
CHEBI:63043	\N	\N	"" []	CHEBI:63043	"" []	62699	\N	\N	EFO	0	EFO	potassium nitrate	potassium nitrate
CHEBI:37577	CHEBI:63043	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63043	"" []	202149	\N	\N	EFO	1	EFO	chemical compound	potassium nitrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63043	"" []	555055	\N	\N	EFO	2	EFO	chemical entity	potassium nitrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63043	"" []	1137744	\N	\N	EFO	3	EFO	material entity	potassium nitrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63043	"" []	2020872	\N	\N	EFO	4	EFO	experimental factor	potassium nitrate
CHEBI:63060	\N	\N	"" []	CHEBI:63060	"" []	62700	\N	\N	EFO	0	EFO	phase-transfer catalyst role	phase-transfer catalyst role
CHEBI:51086	CHEBI:63060	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:63060	"" []	202150	\N	\N	EFO	1	EFO	chemical role	phase-transfer catalyst role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:63060	"" []	555056	\N	\N	EFO	2	EFO	role	phase-transfer catalyst role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:63060	"" []	1137745	\N	\N	EFO	3	EFO	material property	phase-transfer catalyst role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63060	"" []	2020873	\N	\N	EFO	4	EFO	experimental factor	phase-transfer catalyst role
CHEBI:6343	\N	\N	"" []	CHEBI:6343	"" []	62701	\N	\N	EFO	0	EFO	labetalol	labetalol
CHEBI:37577	CHEBI:6343	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6343	"" []	202151	\N	\N	EFO	1	EFO	chemical compound	labetalol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6343	"" []	555057	\N	\N	EFO	2	EFO	chemical entity	labetalol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6343	"" []	1137746	\N	\N	EFO	3	EFO	material entity	labetalol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6343	"" []	2020874	\N	\N	EFO	4	EFO	experimental factor	labetalol
CHEBI:63490	\N	\N	"A substance capable of undergoing rapid and highly exothermic decomposition." []	CHEBI:63490	"A substance capable of undergoing rapid and highly exothermic decomposition." []	62702	\N	\N	EFO	0	EFO	explosive role	explosive role
CHEBI:51086	CHEBI:63490	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:63490	"A substance capable of undergoing rapid and highly exothermic decomposition." []	202152	\N	\N	EFO	1	EFO	chemical role	explosive role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:63490	"A substance capable of undergoing rapid and highly exothermic decomposition." []	555058	\N	\N	EFO	2	EFO	role	explosive role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:63490	"A substance capable of undergoing rapid and highly exothermic decomposition." []	1137747	\N	\N	EFO	3	EFO	material property	explosive role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63490	"A substance capable of undergoing rapid and highly exothermic decomposition." []	2020875	\N	\N	EFO	4	EFO	experimental factor	explosive role
CHEBI:63599	\N	\N	"\\"A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. Antiviral agent; once incorporated into DNA, 2F-ara-ATP (its metabolite) functions as a DNA chain terminator\\" []" []	CHEBI:63599	"\\"A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. Antiviral agent; once incorporated into DNA, 2F-ara-ATP (its metabolite) functions as a DNA chain terminator\\" []" []	62703	\N	\N	EFO	0	EFO	fludarabine phosphate	fludarabine phosphate
CHEBI:23888	CHEBI:63599	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:63599	"\\"A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. Antiviral agent; once incorporated into DNA, 2F-ara-ATP (its metabolite) functions as a DNA chain terminator\\" []" []	202153	\N	\N	EFO	1	EFO	drug	fludarabine phosphate
EFO:0004415	CHEBI:63599	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:63599	"\\"A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. Antiviral agent; once incorporated into DNA, 2F-ara-ATP (its metabolite) functions as a DNA chain terminator\\" []" []	202154	\N	\N	EFO	1	EFO	ionic salt	fludarabine phosphate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63599	"\\"A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. Antiviral agent; once incorporated into DNA, 2F-ara-ATP (its metabolite) functions as a DNA chain terminator\\" []" []	555059	\N	\N	EFO	2	EFO	chemical compound	fludarabine phosphate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63599	"\\"A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. Antiviral agent; once incorporated into DNA, 2F-ara-ATP (its metabolite) functions as a DNA chain terminator\\" []" []	555060	\N	\N	EFO	2	EFO	chemical compound	fludarabine phosphate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63599	"\\"A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. Antiviral agent; once incorporated into DNA, 2F-ara-ATP (its metabolite) functions as a DNA chain terminator\\" []" []	1137748	\N	\N	EFO	3	EFO	chemical entity	fludarabine phosphate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63599	"\\"A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. Antiviral agent; once incorporated into DNA, 2F-ara-ATP (its metabolite) functions as a DNA chain terminator\\" []" []	2020876	\N	\N	EFO	4	EFO	material entity	fludarabine phosphate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63599	"\\"A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. Antiviral agent; once incorporated into DNA, 2F-ara-ATP (its metabolite) functions as a DNA chain terminator\\" []" []	3175664	\N	\N	EFO	5	EFO	experimental factor	fludarabine phosphate
CHEBI:63609	\N	\N	"\\"A racemate composed of (+)-(11R,2'S)- and (-)-(11S,2'R)-enantiomers of mefloquine. An antimalarial agent which acts as a blood schizonticide; its mechanism of action is unknown.\\" []" []	CHEBI:63609	"\\"A racemate composed of (+)-(11R,2'S)- and (-)-(11S,2'R)-enantiomers of mefloquine. An antimalarial agent which acts as a blood schizonticide; its mechanism of action is unknown.\\" []" []	62704	\N	\N	EFO	0	EFO	mefloquine	mefloquine
CHEBI:23888	CHEBI:63609	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:63609	"\\"A racemate composed of (+)-(11R,2'S)- and (-)-(11S,2'R)-enantiomers of mefloquine. An antimalarial agent which acts as a blood schizonticide; its mechanism of action is unknown.\\" []" []	202155	\N	\N	EFO	1	EFO	drug	mefloquine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63609	"\\"A racemate composed of (+)-(11R,2'S)- and (-)-(11S,2'R)-enantiomers of mefloquine. An antimalarial agent which acts as a blood schizonticide; its mechanism of action is unknown.\\" []" []	555061	\N	\N	EFO	2	EFO	chemical compound	mefloquine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63609	"\\"A racemate composed of (+)-(11R,2'S)- and (-)-(11S,2'R)-enantiomers of mefloquine. An antimalarial agent which acts as a blood schizonticide; its mechanism of action is unknown.\\" []" []	1137749	\N	\N	EFO	3	EFO	chemical entity	mefloquine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63609	"\\"A racemate composed of (+)-(11R,2'S)- and (-)-(11S,2'R)-enantiomers of mefloquine. An antimalarial agent which acts as a blood schizonticide; its mechanism of action is unknown.\\" []" []	2020877	\N	\N	EFO	4	EFO	material entity	mefloquine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63609	"\\"A racemate composed of (+)-(11R,2'S)- and (-)-(11S,2'R)-enantiomers of mefloquine. An antimalarial agent which acts as a blood schizonticide; its mechanism of action is unknown.\\" []" []	3175665	\N	\N	EFO	5	EFO	experimental factor	mefloquine
CHEBI:63613	\N	\N	"" []	CHEBI:63613	"" []	62705	\N	\N	EFO	0	EFO	nevirapine	nevirapine
CHEBI:23888	CHEBI:63613	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:63613	"" []	202156	\N	\N	EFO	1	EFO	drug	nevirapine
CHEBI:24532	CHEBI:63613	\N	"" []	CHEBI:63613	"" []	202157	\N	\N	EFO	1	EFO	organic heterocyclic compound	nevirapine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63613	"" []	555062	\N	\N	EFO	2	EFO	chemical compound	nevirapine
CHEBI:37577	CHEBI:24532	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63613	"" []	555063	\N	\N	EFO	2	EFO	chemical compound	nevirapine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63613	"" []	1137750	\N	\N	EFO	3	EFO	chemical entity	nevirapine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63613	"" []	2020878	\N	\N	EFO	4	EFO	material entity	nevirapine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63613	"" []	3175666	\N	\N	EFO	5	EFO	experimental factor	nevirapine
CHEBI:63631	\N	\N	"" []	CHEBI:63631	"" []	62706	\N	\N	EFO	0	EFO	topiramate	topiramate
CHEBI:37577	CHEBI:63631	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63631	"" []	202158	\N	\N	EFO	1	EFO	chemical compound	topiramate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63631	"" []	555064	\N	\N	EFO	2	EFO	chemical entity	topiramate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63631	"" []	1137751	\N	\N	EFO	3	EFO	material entity	topiramate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63631	"" []	2020879	\N	\N	EFO	4	EFO	experimental factor	topiramate
CHEBI:63632	\N	\N	"\\"A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks.\\" []" []	CHEBI:63632	"\\"A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks.\\" []" []	62707	\N	\N	EFO	0	EFO	topotecan	topotecan
CHEBI:23888	CHEBI:63632	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:63632	"\\"A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks.\\" []" []	202159	\N	\N	EFO	1	EFO	drug	topotecan
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63632	"\\"A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks.\\" []" []	555065	\N	\N	EFO	2	EFO	chemical compound	topotecan
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63632	"\\"A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks.\\" []" []	1137752	\N	\N	EFO	3	EFO	chemical entity	topotecan
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63632	"\\"A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks.\\" []" []	2020880	\N	\N	EFO	4	EFO	material entity	topotecan
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63632	"\\"A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks.\\" []" []	3175667	\N	\N	EFO	5	EFO	experimental factor	topotecan
CHEBI:63916	\N	\N	"" []	CHEBI:63916	"" []	62708	\N	\N	EFO	0	EFO	iloprost	iloprost
CHEBI:23888	CHEBI:63916	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:63916	"" []	202160	\N	\N	EFO	1	EFO	drug	iloprost
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63916	"" []	555066	\N	\N	EFO	2	EFO	chemical compound	iloprost
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63916	"" []	1137753	\N	\N	EFO	3	EFO	chemical entity	iloprost
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63916	"" []	2020881	\N	\N	EFO	4	EFO	material entity	iloprost
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63916	"" []	3175668	\N	\N	EFO	5	EFO	experimental factor	iloprost
CHEBI:63917	\N	\N	"" []	CHEBI:63917	"" []	62709	\N	\N	EFO	0	EFO	symphytine oxide	symphytine oxide
CHEBI:37577	CHEBI:63917	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63917	"" []	202161	\N	\N	EFO	1	EFO	chemical compound	symphytine oxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63917	"" []	555067	\N	\N	EFO	2	EFO	chemical entity	symphytine oxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63917	"" []	1137754	\N	\N	EFO	3	EFO	material entity	symphytine oxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63917	"" []	2020882	\N	\N	EFO	4	EFO	experimental factor	symphytine oxide
CHEBI:63918	\N	\N	"" []	CHEBI:63918	"" []	62710	\N	\N	EFO	0	EFO	artesunate	artesunate
CHEBI:23888	CHEBI:63918	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:63918	"" []	202162	\N	\N	EFO	1	EFO	drug	artesunate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63918	"" []	555068	\N	\N	EFO	2	EFO	chemical compound	artesunate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63918	"" []	1137755	\N	\N	EFO	3	EFO	chemical entity	artesunate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63918	"" []	2020883	\N	\N	EFO	4	EFO	material entity	artesunate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63918	"" []	3175669	\N	\N	EFO	5	EFO	experimental factor	artesunate
CHEBI:63919	\N	\N	"" []	CHEBI:63919	"" []	62711	\N	\N	EFO	0	EFO	3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol	3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol
CHEBI:37577	CHEBI:63919	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63919	"" []	202163	\N	\N	EFO	1	EFO	chemical compound	3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63919	"" []	555069	\N	\N	EFO	2	EFO	chemical entity	3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63919	"" []	1137756	\N	\N	EFO	3	EFO	material entity	3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63919	"" []	2020884	\N	\N	EFO	4	EFO	experimental factor	3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol
CHEBI:63921	\N	\N	"" []	CHEBI:63921	"" []	62712	\N	\N	EFO	0	EFO	2-butoxyethanol	2-butoxyethanol
CHEBI:37577	CHEBI:63921	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63921	"" []	202164	\N	\N	EFO	1	EFO	chemical compound	2-butoxyethanol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63921	"" []	555070	\N	\N	EFO	2	EFO	chemical entity	2-butoxyethanol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63921	"" []	1137757	\N	\N	EFO	3	EFO	material entity	2-butoxyethanol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63921	"" []	2020885	\N	\N	EFO	4	EFO	experimental factor	2-butoxyethanol
CHEBI:63924	\N	\N	"" []	CHEBI:63924	"" []	62713	\N	\N	EFO	0	EFO	riddelliine	riddelliine
CHEBI:37577	CHEBI:63924	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63924	"" []	202165	\N	\N	EFO	1	EFO	chemical compound	riddelliine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63924	"" []	555071	\N	\N	EFO	2	EFO	chemical entity	riddelliine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63924	"" []	1137758	\N	\N	EFO	3	EFO	material entity	riddelliine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63924	"" []	2020886	\N	\N	EFO	4	EFO	experimental factor	riddelliine
CHEBI:63925	\N	\N	"" []	CHEBI:63925	"" []	62714	\N	\N	EFO	0	EFO	latanoprost free acid	latanoprost free acid
EFO:0004416	CHEBI:63925	\N	"" []	CHEBI:63925	"" []	202166	\N	\N	EFO	1	EFO	acid	latanoprost free acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63925	"" []	555072	\N	\N	EFO	2	EFO	chemical compound	latanoprost free acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63925	"" []	1137759	\N	\N	EFO	3	EFO	chemical entity	latanoprost free acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63925	"" []	2020887	\N	\N	EFO	4	EFO	material entity	latanoprost free acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63925	"" []	3175670	\N	\N	EFO	5	EFO	experimental factor	latanoprost free acid
CHEBI:63927	\N	\N	"" []	CHEBI:63927	"" []	62715	\N	\N	EFO	0	EFO	cinidon ethyl	cinidon ethyl
CHEBI:37577	CHEBI:63927	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63927	"" []	202167	\N	\N	EFO	1	EFO	chemical compound	cinidon ethyl
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63927	"" []	555073	\N	\N	EFO	2	EFO	chemical entity	cinidon ethyl
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63927	"" []	1137760	\N	\N	EFO	3	EFO	material entity	cinidon ethyl
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63927	"" []	2020888	\N	\N	EFO	4	EFO	experimental factor	cinidon ethyl
CHEBI:63928	\N	\N	"" []	CHEBI:63928	"" []	62716	\N	\N	EFO	0	EFO	menadione sodium sulfonate	menadione sodium sulfonate
EFO:0004415	CHEBI:63928	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:63928	"" []	202168	\N	\N	EFO	1	EFO	ionic salt	menadione sodium sulfonate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63928	"" []	555074	\N	\N	EFO	2	EFO	chemical compound	menadione sodium sulfonate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63928	"" []	1137761	\N	\N	EFO	3	EFO	chemical entity	menadione sodium sulfonate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63928	"" []	2020889	\N	\N	EFO	4	EFO	material entity	menadione sodium sulfonate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63928	"" []	3175671	\N	\N	EFO	5	EFO	experimental factor	menadione sodium sulfonate
CHEBI:63933	\N	\N	"" []	CHEBI:63933	"" []	62717	\N	\N	EFO	0	EFO	Aroclor 1254	Aroclor 1254
CHEBI:37577	CHEBI:63933	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63933	"" []	202169	\N	\N	EFO	1	EFO	chemical compound	Aroclor 1254
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63933	"" []	555075	\N	\N	EFO	2	EFO	chemical entity	Aroclor 1254
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63933	"" []	1137762	\N	\N	EFO	3	EFO	material entity	Aroclor 1254
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63933	"" []	2020890	\N	\N	EFO	4	EFO	experimental factor	Aroclor 1254
CHEBI:63934	\N	\N	"" []	CHEBI:63934	"" []	62718	\N	\N	EFO	0	EFO	bathocuproine disulfonic acid	bathocuproine disulfonic acid
EFO:0004415	CHEBI:63934	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:63934	"" []	202170	\N	\N	EFO	1	EFO	ionic salt	bathocuproine disulfonic acid
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63934	"" []	555076	\N	\N	EFO	2	EFO	chemical compound	bathocuproine disulfonic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63934	"" []	1137763	\N	\N	EFO	3	EFO	chemical entity	bathocuproine disulfonic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63934	"" []	2020891	\N	\N	EFO	4	EFO	material entity	bathocuproine disulfonic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63934	"" []	3175672	\N	\N	EFO	5	EFO	experimental factor	bathocuproine disulfonic acid
CHEBI:63935	\N	\N	"" []	CHEBI:63935	"" []	62719	\N	\N	EFO	0	EFO	cyclazosin hydrochloride	cyclazosin hydrochloride
EFO:0004415	CHEBI:63935	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:63935	"" []	202171	\N	\N	EFO	1	EFO	ionic salt	cyclazosin hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63935	"" []	555077	\N	\N	EFO	2	EFO	chemical compound	cyclazosin hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63935	"" []	1137764	\N	\N	EFO	3	EFO	chemical entity	cyclazosin hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63935	"" []	2020892	\N	\N	EFO	4	EFO	material entity	cyclazosin hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63935	"" []	3175673	\N	\N	EFO	5	EFO	experimental factor	cyclazosin hydrochloride
CHEBI:63938	\N	\N	"" []	CHEBI:63938	"" []	62720	\N	\N	EFO	0	EFO	cadmium dichloride hemipentahydrate	cadmium dichloride hemipentahydrate
CHEBI:37577	CHEBI:63938	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63938	"" []	202172	\N	\N	EFO	1	EFO	chemical compound	cadmium dichloride hemipentahydrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63938	"" []	555078	\N	\N	EFO	2	EFO	chemical entity	cadmium dichloride hemipentahydrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63938	"" []	1137765	\N	\N	EFO	3	EFO	material entity	cadmium dichloride hemipentahydrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63938	"" []	2020893	\N	\N	EFO	4	EFO	experimental factor	cadmium dichloride hemipentahydrate
CHEBI:63939	\N	\N	"" []	CHEBI:63939	"" []	62721	\N	\N	EFO	0	EFO	sodium tungstate dihydrate	sodium tungstate dihydrate
CHEBI:37577	CHEBI:63939	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63939	"" []	202173	\N	\N	EFO	1	EFO	chemical compound	sodium tungstate dihydrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63939	"" []	555079	\N	\N	EFO	2	EFO	chemical entity	sodium tungstate dihydrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63939	"" []	1137766	\N	\N	EFO	3	EFO	material entity	sodium tungstate dihydrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63939	"" []	2020894	\N	\N	EFO	4	EFO	experimental factor	sodium tungstate dihydrate
CHEBI:63940	\N	\N	"" []	CHEBI:63940	"" []	62722	\N	\N	EFO	0	EFO	sodium tungstate	sodium tungstate
CHEBI:37577	CHEBI:63940	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63940	"" []	202174	\N	\N	EFO	1	EFO	chemical compound	sodium tungstate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63940	"" []	555080	\N	\N	EFO	2	EFO	chemical entity	sodium tungstate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63940	"" []	1137767	\N	\N	EFO	3	EFO	material entity	sodium tungstate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63940	"" []	2020895	\N	\N	EFO	4	EFO	experimental factor	sodium tungstate
CHEBI:63942	\N	\N	"" []	CHEBI:63942	"" []	62723	\N	\N	EFO	0	EFO	ferrozine monosodium salt	ferrozine monosodium salt
CHEBI:37577	CHEBI:63942	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63942	"" []	202175	\N	\N	EFO	1	EFO	chemical compound	ferrozine monosodium salt
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63942	"" []	555081	\N	\N	EFO	2	EFO	chemical entity	ferrozine monosodium salt
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63942	"" []	1137768	\N	\N	EFO	3	EFO	material entity	ferrozine monosodium salt
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63942	"" []	2020896	\N	\N	EFO	4	EFO	experimental factor	ferrozine monosodium salt
CHEBI:63948	\N	\N	"" []	CHEBI:63948	"" []	62724	\N	\N	EFO	0	EFO	trimethyltin	trimethyltin
CHEBI:37577	CHEBI:63948	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63948	"" []	202176	\N	\N	EFO	1	EFO	chemical compound	trimethyltin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63948	"" []	555082	\N	\N	EFO	2	EFO	chemical entity	trimethyltin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63948	"" []	1137769	\N	\N	EFO	3	EFO	material entity	trimethyltin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63948	"" []	2020897	\N	\N	EFO	4	EFO	experimental factor	trimethyltin
CHEBI:63949	\N	\N	"" []	CHEBI:63949	"" []	62725	\N	\N	EFO	0	EFO	2,3-bis(4-hydroxyphenyl)propionitrile	2,3-bis(4-hydroxyphenyl)propionitrile
CHEBI:37577	CHEBI:63949	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63949	"" []	202177	\N	\N	EFO	1	EFO	chemical compound	2,3-bis(4-hydroxyphenyl)propionitrile
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63949	"" []	555083	\N	\N	EFO	2	EFO	chemical entity	2,3-bis(4-hydroxyphenyl)propionitrile
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63949	"" []	1137770	\N	\N	EFO	3	EFO	material entity	2,3-bis(4-hydroxyphenyl)propionitrile
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63949	"" []	2020898	\N	\N	EFO	4	EFO	experimental factor	2,3-bis(4-hydroxyphenyl)propionitrile
CHEBI:63952	\N	\N	"" []	CHEBI:63952	"" []	62726	\N	\N	EFO	0	EFO	arsenic trichloride	arsenic trichloride
EFO:0004415	CHEBI:63952	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:63952	"" []	202178	\N	\N	EFO	1	EFO	ionic salt	arsenic trichloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63952	"" []	555084	\N	\N	EFO	2	EFO	chemical compound	arsenic trichloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63952	"" []	1137771	\N	\N	EFO	3	EFO	chemical entity	arsenic trichloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63952	"" []	2020899	\N	\N	EFO	4	EFO	material entity	arsenic trichloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63952	"" []	3175674	\N	\N	EFO	5	EFO	experimental factor	arsenic trichloride
CHEBI:63954	\N	\N	"" []	CHEBI:63954	"" []	62727	\N	\N	EFO	0	EFO	ionomycin	ionomycin
CHEBI:37577	CHEBI:63954	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63954	"" []	202179	\N	\N	EFO	1	EFO	chemical compound	ionomycin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63954	"" []	555085	\N	\N	EFO	2	EFO	chemical entity	ionomycin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63954	"" []	1137772	\N	\N	EFO	3	EFO	material entity	ionomycin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63954	"" []	2020900	\N	\N	EFO	4	EFO	experimental factor	ionomycin
CHEBI:63956	\N	\N	"" []	CHEBI:63956	"" []	62728	\N	\N	EFO	0	EFO	isoxaben	isoxaben
CHEBI:37577	CHEBI:63956	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63956	"" []	202180	\N	\N	EFO	1	EFO	chemical compound	isoxaben
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63956	"" []	555086	\N	\N	EFO	2	EFO	chemical entity	isoxaben
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63956	"" []	1137773	\N	\N	EFO	3	EFO	material entity	isoxaben
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63956	"" []	2020901	\N	\N	EFO	4	EFO	experimental factor	isoxaben
CHEBI:63959	\N	\N	"" []	CHEBI:63959	"" []	62729	\N	\N	EFO	0	EFO	celastrol	celastrol
CHEBI:23888	CHEBI:63959	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:63959	"" []	202181	\N	\N	EFO	1	EFO	drug	celastrol
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63959	"" []	555087	\N	\N	EFO	2	EFO	chemical compound	celastrol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63959	"" []	1137774	\N	\N	EFO	3	EFO	chemical entity	celastrol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63959	"" []	2020902	\N	\N	EFO	4	EFO	material entity	celastrol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63959	"" []	3175675	\N	\N	EFO	5	EFO	experimental factor	celastrol
CHEBI:63964	\N	\N	"" []	CHEBI:63964	"" []	62730	\N	\N	EFO	0	EFO	N(6)-acetimidoyl-L-lysine dihydrochloride	N(6)-acetimidoyl-L-lysine dihydrochloride
EFO:0004415	CHEBI:63964	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:63964	"" []	202182	\N	\N	EFO	1	EFO	ionic salt	N(6)-acetimidoyl-L-lysine dihydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63964	"" []	555088	\N	\N	EFO	2	EFO	chemical compound	N(6)-acetimidoyl-L-lysine dihydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63964	"" []	1137775	\N	\N	EFO	3	EFO	chemical entity	N(6)-acetimidoyl-L-lysine dihydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63964	"" []	2020903	\N	\N	EFO	4	EFO	material entity	N(6)-acetimidoyl-L-lysine dihydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63964	"" []	3175676	\N	\N	EFO	5	EFO	experimental factor	N(6)-acetimidoyl-L-lysine dihydrochloride
CHEBI:63965	\N	\N	"" []	CHEBI:63965	"" []	62731	\N	\N	EFO	0	EFO	7-chlorokynurenic acid	7-chlorokynurenic acid
EFO:0004416	CHEBI:63965	\N	"" []	CHEBI:63965	"" []	202183	\N	\N	EFO	1	EFO	acid	7-chlorokynurenic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63965	"" []	555089	\N	\N	EFO	2	EFO	chemical compound	7-chlorokynurenic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63965	"" []	1137776	\N	\N	EFO	3	EFO	chemical entity	7-chlorokynurenic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63965	"" []	2020904	\N	\N	EFO	4	EFO	material entity	7-chlorokynurenic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63965	"" []	3175677	\N	\N	EFO	5	EFO	experimental factor	7-chlorokynurenic acid
CHEBI:63978	\N	\N	"" []	CHEBI:63978	"" []	62732	\N	\N	EFO	0	EFO	N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide	N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
EFO:0004415	CHEBI:63978	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:63978	"" []	202184	\N	\N	EFO	1	EFO	ionic salt	N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63978	"" []	555090	\N	\N	EFO	2	EFO	chemical compound	N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63978	"" []	1137777	\N	\N	EFO	3	EFO	chemical entity	N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63978	"" []	2020905	\N	\N	EFO	4	EFO	material entity	N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63978	"" []	3175678	\N	\N	EFO	5	EFO	experimental factor	N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
CHEBI:63996	\N	\N	"" []	CHEBI:63996	"" []	62733	\N	\N	EFO	0	EFO	N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide	N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
EFO:0004415	CHEBI:63996	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:63996	"" []	202185	\N	\N	EFO	1	EFO	ionic salt	N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:63996	"" []	555091	\N	\N	EFO	2	EFO	chemical compound	N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:63996	"" []	1137778	\N	\N	EFO	3	EFO	chemical entity	N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:63996	"" []	2020906	\N	\N	EFO	4	EFO	material entity	N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:63996	"" []	3175679	\N	\N	EFO	5	EFO	experimental factor	N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
CHEBI:64002	\N	\N	"" []	CHEBI:64002	"" []	62734	\N	\N	EFO	0	EFO	N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide	N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
EFO:0004415	CHEBI:64002	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64002	"" []	202186	\N	\N	EFO	1	EFO	ionic salt	N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64002	"" []	555092	\N	\N	EFO	2	EFO	chemical compound	N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64002	"" []	1137779	\N	\N	EFO	3	EFO	chemical entity	N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64002	"" []	2020907	\N	\N	EFO	4	EFO	material entity	N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64002	"" []	3175680	\N	\N	EFO	5	EFO	experimental factor	N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide
CHEBI:64022	\N	\N	"" []	CHEBI:64022	"" []	62735	\N	\N	EFO	0	EFO	nebivolol	nebivolol
CHEBI:23888	CHEBI:64022	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64022	"" []	202187	\N	\N	EFO	1	EFO	drug	nebivolol
CHEBI:59219	CHEBI:64022	\N	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	CHEBI:64022	"" []	202188	\N	\N	EFO	1	EFO	caerulein	nebivolol
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64022	"" []	555093	\N	\N	EFO	2	EFO	chemical compound	nebivolol
CHEBI:37577	CHEBI:59219	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64022	"" []	555094	\N	\N	EFO	2	EFO	chemical compound	nebivolol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64022	"" []	1137780	\N	\N	EFO	3	EFO	chemical entity	nebivolol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64022	"" []	2020908	\N	\N	EFO	4	EFO	material entity	nebivolol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64022	"" []	3175681	\N	\N	EFO	5	EFO	experimental factor	nebivolol
CHEBI:64041	\N	\N	"" []	CHEBI:64041	"" []	62736	\N	\N	EFO	0	EFO	N-octylhomovanillamide	N-octylhomovanillamide
CHEBI:23888	CHEBI:64041	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64041	"" []	202189	\N	\N	EFO	1	EFO	drug	N-octylhomovanillamide
EFO:0004417	CHEBI:64041	\N	"" []	CHEBI:64041	"" []	202190	\N	\N	EFO	1	EFO	amide	N-octylhomovanillamide
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64041	"" []	555095	\N	\N	EFO	2	EFO	chemical compound	N-octylhomovanillamide
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64041	"" []	555096	\N	\N	EFO	2	EFO	chemical compound	N-octylhomovanillamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64041	"" []	1137781	\N	\N	EFO	3	EFO	chemical entity	N-octylhomovanillamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64041	"" []	2020909	\N	\N	EFO	4	EFO	material entity	N-octylhomovanillamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64041	"" []	3175682	\N	\N	EFO	5	EFO	experimental factor	N-octylhomovanillamide
CHEBI:64042	\N	\N	"" []	CHEBI:64042	"" []	62737	\N	\N	EFO	0	EFO	3-aminobenzamide	3-aminobenzamide
CHEBI:37577	CHEBI:64042	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64042	"" []	202191	\N	\N	EFO	1	EFO	chemical compound	3-aminobenzamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64042	"" []	555097	\N	\N	EFO	2	EFO	chemical entity	3-aminobenzamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64042	"" []	1137782	\N	\N	EFO	3	EFO	material entity	3-aminobenzamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64042	"" []	2020910	\N	\N	EFO	4	EFO	experimental factor	3-aminobenzamide
CHEBI:64044	\N	\N	"" []	CHEBI:64044	"" []	62738	\N	\N	EFO	0	EFO	isoquinoline-1,5-diol	isoquinoline-1,5-diol
CHEBI:37577	CHEBI:64044	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64044	"" []	202192	\N	\N	EFO	1	EFO	chemical compound	isoquinoline-1,5-diol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64044	"" []	555098	\N	\N	EFO	2	EFO	chemical entity	isoquinoline-1,5-diol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64044	"" []	1137783	\N	\N	EFO	3	EFO	material entity	isoquinoline-1,5-diol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64044	"" []	2020911	\N	\N	EFO	4	EFO	experimental factor	isoquinoline-1,5-diol
CHEBI:64045	\N	\N	"" []	CHEBI:64045	"" []	62739	\N	\N	EFO	0	EFO	amisulpride	amisulpride
CHEBI:23888	CHEBI:64045	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64045	"" []	202193	\N	\N	EFO	1	EFO	drug	amisulpride
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64045	"" []	555099	\N	\N	EFO	2	EFO	chemical compound	amisulpride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64045	"" []	1137784	\N	\N	EFO	3	EFO	chemical entity	amisulpride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64045	"" []	2020912	\N	\N	EFO	4	EFO	material entity	amisulpride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64045	"" []	3175683	\N	\N	EFO	5	EFO	experimental factor	amisulpride
CHEBI:64050	\N	\N	"" []	CHEBI:64050	"" []	62740	\N	\N	EFO	0	EFO	N-desmethylclozapine	N-desmethylclozapine
CHEBI:23888	CHEBI:64050	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64050	"" []	202194	\N	\N	EFO	1	EFO	drug	N-desmethylclozapine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64050	"" []	555100	\N	\N	EFO	2	EFO	chemical compound	N-desmethylclozapine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64050	"" []	1137785	\N	\N	EFO	3	EFO	chemical entity	N-desmethylclozapine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64050	"" []	2020913	\N	\N	EFO	4	EFO	material entity	N-desmethylclozapine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64050	"" []	3175684	\N	\N	EFO	5	EFO	experimental factor	N-desmethylclozapine
CHEBI:64053	\N	\N	"" []	CHEBI:64053	"" []	62741	\N	\N	EFO	0	EFO	4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate	4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate
CHEBI:64207	CHEBI:64053	\N	"" []	CHEBI:64053	"" []	202195	\N	\N	EFO	1	EFO	spiramide	4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate
CHEBI:23888	CHEBI:64207	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64053	"" []	555101	\N	\N	EFO	2	EFO	drug	4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64053	"" []	1137786	\N	\N	EFO	3	EFO	chemical compound	4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64053	"" []	2020914	\N	\N	EFO	4	EFO	chemical entity	4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64053	"" []	3175685	\N	\N	EFO	5	EFO	material entity	4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64053	"" []	4386551	\N	\N	EFO	6	EFO	experimental factor	4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate
CHEBI:64057	\N	\N	"" []	CHEBI:64057	"" []	62742	\N	\N	EFO	0	EFO	3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride	3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride
EFO:0004415	CHEBI:64057	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64057	"" []	202196	\N	\N	EFO	1	EFO	ionic salt	3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64057	"" []	555102	\N	\N	EFO	2	EFO	chemical compound	3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64057	"" []	1137787	\N	\N	EFO	3	EFO	chemical entity	3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64057	"" []	2020915	\N	\N	EFO	4	EFO	material entity	3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64057	"" []	3175686	\N	\N	EFO	5	EFO	experimental factor	3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride
CHEBI:64065	\N	\N	"" []	CHEBI:64065	"" []	62743	\N	\N	EFO	0	EFO	CGP 78608 hydrochloride	CGP 78608 hydrochloride
EFO:0004415	CHEBI:64065	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64065	"" []	202197	\N	\N	EFO	1	EFO	ionic salt	CGP 78608 hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64065	"" []	555103	\N	\N	EFO	2	EFO	chemical compound	CGP 78608 hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64065	"" []	1137788	\N	\N	EFO	3	EFO	chemical entity	CGP 78608 hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64065	"" []	2020916	\N	\N	EFO	4	EFO	material entity	CGP 78608 hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64065	"" []	3175687	\N	\N	EFO	5	EFO	experimental factor	CGP 78608 hydrochloride
CHEBI:64067	\N	\N	"" []	CHEBI:64067	"" []	62744	\N	\N	EFO	0	EFO	SB 224289 hydrochloride	SB 224289 hydrochloride
EFO:0004415	CHEBI:64067	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64067	"" []	202198	\N	\N	EFO	1	EFO	ionic salt	SB 224289 hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64067	"" []	555104	\N	\N	EFO	2	EFO	chemical compound	SB 224289 hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64067	"" []	1137789	\N	\N	EFO	3	EFO	chemical entity	SB 224289 hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64067	"" []	2020917	\N	\N	EFO	4	EFO	material entity	SB 224289 hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64067	"" []	3175688	\N	\N	EFO	5	EFO	experimental factor	SB 224289 hydrochloride
CHEBI:64073	\N	\N	"" []	CHEBI:64073	"" []	62745	\N	\N	EFO	0	EFO	exendin-4	exendin-4
CHEBI:23888	CHEBI:64073	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64073	"" []	202199	\N	\N	EFO	1	EFO	drug	exendin-4
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64073	"" []	555105	\N	\N	EFO	2	EFO	chemical compound	exendin-4
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64073	"" []	1137790	\N	\N	EFO	3	EFO	chemical entity	exendin-4
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64073	"" []	2020918	\N	\N	EFO	4	EFO	material entity	exendin-4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64073	"" []	3175689	\N	\N	EFO	5	EFO	experimental factor	exendin-4
CHEBI:64078	\N	\N	"" []	CHEBI:64078	"" []	62746	\N	\N	EFO	0	EFO	(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride	(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride
CHEBI:23888	CHEBI:64078	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64078	"" []	202200	\N	\N	EFO	1	EFO	drug	(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride
EFO:0004415	CHEBI:64078	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64078	"" []	202201	\N	\N	EFO	1	EFO	ionic salt	(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64078	"" []	555106	\N	\N	EFO	2	EFO	chemical compound	(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64078	"" []	555107	\N	\N	EFO	2	EFO	chemical compound	(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64078	"" []	1137791	\N	\N	EFO	3	EFO	chemical entity	(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64078	"" []	2020919	\N	\N	EFO	4	EFO	material entity	(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64078	"" []	3175690	\N	\N	EFO	5	EFO	experimental factor	(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride
CHEBI:64081	\N	\N	"" []	CHEBI:64081	"" []	62747	\N	\N	EFO	0	EFO	RS 39604 hydrochloride	RS 39604 hydrochloride
EFO:0004415	CHEBI:64081	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64081	"" []	202202	\N	\N	EFO	1	EFO	ionic salt	RS 39604 hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64081	"" []	555108	\N	\N	EFO	2	EFO	chemical compound	RS 39604 hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64081	"" []	1137792	\N	\N	EFO	3	EFO	chemical entity	RS 39604 hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64081	"" []	2020920	\N	\N	EFO	4	EFO	material entity	RS 39604 hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64081	"" []	3175691	\N	\N	EFO	5	EFO	experimental factor	RS 39604 hydrochloride
CHEBI:64086	\N	\N	"" []	CHEBI:64086	"" []	62748	\N	\N	EFO	0	EFO	vanoxerine dihydrochloride	vanoxerine dihydrochloride
EFO:0004415	CHEBI:64086	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64086	"" []	202203	\N	\N	EFO	1	EFO	ionic salt	vanoxerine dihydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64086	"" []	555109	\N	\N	EFO	2	EFO	chemical compound	vanoxerine dihydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64086	"" []	1137793	\N	\N	EFO	3	EFO	chemical entity	vanoxerine dihydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64086	"" []	2020921	\N	\N	EFO	4	EFO	material entity	vanoxerine dihydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64086	"" []	3175692	\N	\N	EFO	5	EFO	experimental factor	vanoxerine dihydrochloride
CHEBI:64090	\N	\N	"" []	CHEBI:64090	"" []	62749	\N	\N	EFO	0	EFO	tert-butyl hydroperoxide	tert-butyl hydroperoxide
CHEBI:23888	CHEBI:64090	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64090	"" []	202204	\N	\N	EFO	1	EFO	drug	tert-butyl hydroperoxide
CHEBI:24431	CHEBI:64090	\N	"" []	CHEBI:64090	"" []	202205	\N	\N	EFO	1	EFO	chemical entity	tert-butyl hydroperoxide
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64090	"" []	555110	\N	\N	EFO	2	EFO	chemical compound	tert-butyl hydroperoxide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64090	"" []	1137794	\N	\N	EFO	3	EFO	chemical entity	tert-butyl hydroperoxide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64090	"" []	2020922	\N	\N	EFO	4	EFO	material entity	tert-butyl hydroperoxide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64090	"" []	3175693	\N	\N	EFO	5	EFO	experimental factor	tert-butyl hydroperoxide
CHEBI:64091	\N	\N	"" []	CHEBI:64091	"" []	62750	\N	\N	EFO	0	EFO	1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride	1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride
EFO:0004415	CHEBI:64091	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64091	"" []	202206	\N	\N	EFO	1	EFO	ionic salt	1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64091	"" []	555111	\N	\N	EFO	2	EFO	chemical compound	1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64091	"" []	1137795	\N	\N	EFO	3	EFO	chemical entity	1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64091	"" []	2020923	\N	\N	EFO	4	EFO	material entity	1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64091	"" []	3175694	\N	\N	EFO	5	EFO	experimental factor	1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride
CHEBI:64098	\N	\N	"" []	CHEBI:64098	"" []	62751	\N	\N	EFO	0	EFO	N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine	N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine
EFO:0004415	CHEBI:64098	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64098	"" []	202207	\N	\N	EFO	1	EFO	ionic salt	N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64098	"" []	555112	\N	\N	EFO	2	EFO	chemical compound	N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64098	"" []	1137796	\N	\N	EFO	3	EFO	chemical entity	N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64098	"" []	2020924	\N	\N	EFO	4	EFO	material entity	N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64098	"" []	3175695	\N	\N	EFO	5	EFO	experimental factor	N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine
CHEBI:64099	\N	\N	"" []	CHEBI:64099	"" []	62752	\N	\N	EFO	0	EFO	4-fluoro-N-\\\\\\{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl\\\\\\}benzamide hydrochloride	4-fluoro-N-\\\\\\{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl\\\\\\}benzamide hydrochloride
EFO:0004415	CHEBI:64099	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64099	"" []	202208	\N	\N	EFO	1	EFO	ionic salt	4-fluoro-N-\\\\\\{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl\\\\\\}benzamide hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64099	"" []	555113	\N	\N	EFO	2	EFO	chemical compound	4-fluoro-N-\\\\\\{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl\\\\\\}benzamide hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64099	"" []	1137797	\N	\N	EFO	3	EFO	chemical entity	4-fluoro-N-\\\\\\{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl\\\\\\}benzamide hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64099	"" []	2020925	\N	\N	EFO	4	EFO	material entity	4-fluoro-N-\\\\\\{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl\\\\\\}benzamide hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64099	"" []	3175696	\N	\N	EFO	5	EFO	experimental factor	4-fluoro-N-\\\\\\{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl\\\\\\}benzamide hydrochloride
CHEBI:64103	\N	\N	"" []	CHEBI:64103	"" []	62753	\N	\N	EFO	0	EFO	sodium butyrate	sodium butyrate
EFO:0004415	CHEBI:64103	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64103	"" []	202209	\N	\N	EFO	1	EFO	ionic salt	sodium butyrate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64103	"" []	555114	\N	\N	EFO	2	EFO	chemical compound	sodium butyrate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64103	"" []	1137798	\N	\N	EFO	3	EFO	chemical entity	sodium butyrate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64103	"" []	2020926	\N	\N	EFO	4	EFO	material entity	sodium butyrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64103	"" []	3175697	\N	\N	EFO	5	EFO	experimental factor	sodium butyrate
CHEBI:64104	\N	\N	"" []	CHEBI:64104	"" []	62754	\N	\N	EFO	0	EFO	sodium 8-bromo-3',5'-cyclic GMP	sodium 8-bromo-3',5'-cyclic GMP
CHEBI:37577	CHEBI:64104	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64104	"" []	202210	\N	\N	EFO	1	EFO	chemical compound	sodium 8-bromo-3',5'-cyclic GMP
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64104	"" []	555115	\N	\N	EFO	2	EFO	chemical entity	sodium 8-bromo-3',5'-cyclic GMP
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64104	"" []	1137799	\N	\N	EFO	3	EFO	material entity	sodium 8-bromo-3',5'-cyclic GMP
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64104	"" []	2020927	\N	\N	EFO	4	EFO	experimental factor	sodium 8-bromo-3',5'-cyclic GMP
CHEBI:64110	\N	\N	"" []	CHEBI:64110	"" []	62755	\N	\N	EFO	0	EFO	4,4',4''-(4-propylpyrazole-1,3,5-triyl)trisphenol	4,4',4''-(4-propylpyrazole-1,3,5-triyl)trisphenol
CHEBI:37577	CHEBI:64110	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64110	"" []	202211	\N	\N	EFO	1	EFO	chemical compound	4,4',4''-(4-propylpyrazole-1,3,5-triyl)trisphenol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64110	"" []	555116	\N	\N	EFO	2	EFO	chemical entity	4,4',4''-(4-propylpyrazole-1,3,5-triyl)trisphenol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64110	"" []	1137800	\N	\N	EFO	3	EFO	material entity	4,4',4''-(4-propylpyrazole-1,3,5-triyl)trisphenol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64110	"" []	2020928	\N	\N	EFO	4	EFO	experimental factor	4,4',4''-(4-propylpyrazole-1,3,5-triyl)trisphenol
CHEBI:64111	\N	\N	"" []	CHEBI:64111	"" []	62756	\N	\N	EFO	0	EFO	GR 127935 hydrochloride	GR 127935 hydrochloride
EFO:0004415	CHEBI:64111	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64111	"" []	202212	\N	\N	EFO	1	EFO	ionic salt	GR 127935 hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64111	"" []	555117	\N	\N	EFO	2	EFO	chemical compound	GR 127935 hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64111	"" []	1137801	\N	\N	EFO	3	EFO	chemical entity	GR 127935 hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64111	"" []	2020929	\N	\N	EFO	4	EFO	material entity	GR 127935 hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64111	"" []	3175698	\N	\N	EFO	5	EFO	experimental factor	GR 127935 hydrochloride
CHEBI:64115	\N	\N	"" []	CHEBI:64115	"" []	62757	\N	\N	EFO	0	EFO	(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride	(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride
CHEBI:23888	CHEBI:64115	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64115	"" []	202213	\N	\N	EFO	1	EFO	drug	(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride
EFO:0004415	CHEBI:64115	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64115	"" []	202214	\N	\N	EFO	1	EFO	ionic salt	(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64115	"" []	555118	\N	\N	EFO	2	EFO	chemical compound	(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64115	"" []	555119	\N	\N	EFO	2	EFO	chemical compound	(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64115	"" []	1137802	\N	\N	EFO	3	EFO	chemical entity	(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64115	"" []	2020930	\N	\N	EFO	4	EFO	material entity	(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64115	"" []	3175699	\N	\N	EFO	5	EFO	experimental factor	(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride
CHEBI:64119	\N	\N	"" []	CHEBI:64119	"" []	62758	\N	\N	EFO	0	EFO	(S)-(-)-sulpiride	(S)-(-)-sulpiride
CHEBI:23888	CHEBI:64119	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64119	"" []	202215	\N	\N	EFO	1	EFO	drug	(S)-(-)-sulpiride
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64119	"" []	555120	\N	\N	EFO	2	EFO	chemical compound	(S)-(-)-sulpiride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64119	"" []	1137803	\N	\N	EFO	3	EFO	chemical entity	(S)-(-)-sulpiride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64119	"" []	2020931	\N	\N	EFO	4	EFO	material entity	(S)-(-)-sulpiride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64119	"" []	3175700	\N	\N	EFO	5	EFO	experimental factor	(S)-(-)-sulpiride
CHEBI:64123	\N	\N	"" []	CHEBI:64123	"" []	62759	\N	\N	EFO	0	EFO	NAN 190 hydrobromide	NAN 190 hydrobromide
EFO:0004415	CHEBI:64123	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64123	"" []	202216	\N	\N	EFO	1	EFO	ionic salt	NAN 190 hydrobromide
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64123	"" []	555121	\N	\N	EFO	2	EFO	chemical compound	NAN 190 hydrobromide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64123	"" []	1137804	\N	\N	EFO	3	EFO	chemical entity	NAN 190 hydrobromide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64123	"" []	2020932	\N	\N	EFO	4	EFO	material entity	NAN 190 hydrobromide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64123	"" []	3175701	\N	\N	EFO	5	EFO	experimental factor	NAN 190 hydrobromide
CHEBI:64134	\N	\N	"" []	CHEBI:64134	"" []	62760	\N	\N	EFO	0	EFO	2-\\\\\\{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino\\\\\\}tetralin-7-ol maleate	2-\\\\\\{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino\\\\\\}tetralin-7-ol maleate
CHEBI:37577	CHEBI:64134	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64134	"" []	202217	\N	\N	EFO	1	EFO	chemical compound	2-\\\\\\{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino\\\\\\}tetralin-7-ol maleate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64134	"" []	555122	\N	\N	EFO	2	EFO	chemical entity	2-\\\\\\{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino\\\\\\}tetralin-7-ol maleate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64134	"" []	1137805	\N	\N	EFO	3	EFO	material entity	2-\\\\\\{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino\\\\\\}tetralin-7-ol maleate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64134	"" []	2020933	\N	\N	EFO	4	EFO	experimental factor	2-\\\\\\{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino\\\\\\}tetralin-7-ol maleate
CHEBI:64139	\N	\N	"" []	CHEBI:64139	"" []	62761	\N	\N	EFO	0	EFO	(2R,3S)-EHNA hydrochloride	(2R,3S)-EHNA hydrochloride
EFO:0004415	CHEBI:64139	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64139	"" []	202218	\N	\N	EFO	1	EFO	ionic salt	(2R,3S)-EHNA hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64139	"" []	555123	\N	\N	EFO	2	EFO	chemical compound	(2R,3S)-EHNA hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64139	"" []	1137806	\N	\N	EFO	3	EFO	chemical entity	(2R,3S)-EHNA hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64139	"" []	2020934	\N	\N	EFO	4	EFO	material entity	(2R,3S)-EHNA hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64139	"" []	3175702	\N	\N	EFO	5	EFO	experimental factor	(2R,3S)-EHNA hydrochloride
CHEBI:64142	\N	\N	"" []	CHEBI:64142	"" []	62762	\N	\N	EFO	0	EFO	tropanyl 3,5-dimethylbenzoate	tropanyl 3,5-dimethylbenzoate
CHEBI:64207	CHEBI:64142	\N	"" []	CHEBI:64142	"" []	202219	\N	\N	EFO	1	EFO	spiramide	tropanyl 3,5-dimethylbenzoate
CHEBI:23888	CHEBI:64207	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64142	"" []	555124	\N	\N	EFO	2	EFO	drug	tropanyl 3,5-dimethylbenzoate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64142	"" []	1137807	\N	\N	EFO	3	EFO	chemical compound	tropanyl 3,5-dimethylbenzoate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64142	"" []	2020935	\N	\N	EFO	4	EFO	chemical entity	tropanyl 3,5-dimethylbenzoate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64142	"" []	3175703	\N	\N	EFO	5	EFO	material entity	tropanyl 3,5-dimethylbenzoate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64142	"" []	4386552	\N	\N	EFO	6	EFO	experimental factor	tropanyl 3,5-dimethylbenzoate
CHEBI:64143	\N	\N	"" []	CHEBI:64143	"" []	62763	\N	\N	EFO	0	EFO	depudecin	depudecin
CHEBI:37577	CHEBI:64143	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64143	"" []	202220	\N	\N	EFO	1	EFO	chemical compound	depudecin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64143	"" []	555125	\N	\N	EFO	2	EFO	chemical entity	depudecin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64143	"" []	1137808	\N	\N	EFO	3	EFO	material entity	depudecin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64143	"" []	2020936	\N	\N	EFO	4	EFO	experimental factor	depudecin
CHEBI:64144	\N	\N	"" []	CHEBI:64144	"" []	62764	\N	\N	EFO	0	EFO	1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine maleate	1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine maleate
CHEBI:37577	CHEBI:64144	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64144	"" []	202221	\N	\N	EFO	1	EFO	chemical compound	1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine maleate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64144	"" []	555126	\N	\N	EFO	2	EFO	chemical entity	1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine maleate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64144	"" []	1137809	\N	\N	EFO	3	EFO	material entity	1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine maleate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64144	"" []	2020937	\N	\N	EFO	4	EFO	experimental factor	1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine maleate
CHEBI:64147	\N	\N	"" []	CHEBI:64147	"" []	62765	\N	\N	EFO	0	EFO	5-nonyloxytryptamine oxalate	5-nonyloxytryptamine oxalate
CHEBI:23888	CHEBI:64147	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64147	"" []	202222	\N	\N	EFO	1	EFO	drug	5-nonyloxytryptamine oxalate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64147	"" []	555127	\N	\N	EFO	2	EFO	chemical compound	5-nonyloxytryptamine oxalate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64147	"" []	1137810	\N	\N	EFO	3	EFO	chemical entity	5-nonyloxytryptamine oxalate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64147	"" []	2020938	\N	\N	EFO	4	EFO	material entity	5-nonyloxytryptamine oxalate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64147	"" []	3175704	\N	\N	EFO	5	EFO	experimental factor	5-nonyloxytryptamine oxalate
CHEBI:64151	\N	\N	"" []	CHEBI:64151	"" []	62766	\N	\N	EFO	0	EFO	imetit dihydrobromide	imetit dihydrobromide
EFO:0004415	CHEBI:64151	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64151	"" []	202223	\N	\N	EFO	1	EFO	ionic salt	imetit dihydrobromide
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64151	"" []	555128	\N	\N	EFO	2	EFO	chemical compound	imetit dihydrobromide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64151	"" []	1137811	\N	\N	EFO	3	EFO	chemical entity	imetit dihydrobromide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64151	"" []	2020939	\N	\N	EFO	4	EFO	material entity	imetit dihydrobromide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64151	"" []	3175705	\N	\N	EFO	5	EFO	experimental factor	imetit dihydrobromide
CHEBI:64153	\N	\N	"" []	CHEBI:64153	"" []	62767	\N	\N	EFO	0	EFO	tanespimycin	tanespimycin
CHEBI:23888	CHEBI:64153	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64153	"" []	202224	\N	\N	EFO	1	EFO	drug	tanespimycin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64153	"" []	555129	\N	\N	EFO	2	EFO	chemical compound	tanespimycin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64153	"" []	1137812	\N	\N	EFO	3	EFO	chemical entity	tanespimycin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64153	"" []	2020940	\N	\N	EFO	4	EFO	material entity	tanespimycin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64153	"" []	3175706	\N	\N	EFO	5	EFO	experimental factor	tanespimycin
CHEBI:64158	\N	\N	"" []	CHEBI:64158	"" []	62768	\N	\N	EFO	0	EFO	2-methyl-6-(phenylethynyl)pyridine hydrochloride	2-methyl-6-(phenylethynyl)pyridine hydrochloride
EFO:0004415	CHEBI:64158	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64158	"" []	202225	\N	\N	EFO	1	EFO	ionic salt	2-methyl-6-(phenylethynyl)pyridine hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64158	"" []	555130	\N	\N	EFO	2	EFO	chemical compound	2-methyl-6-(phenylethynyl)pyridine hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64158	"" []	1137813	\N	\N	EFO	3	EFO	chemical entity	2-methyl-6-(phenylethynyl)pyridine hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64158	"" []	2020941	\N	\N	EFO	4	EFO	material entity	2-methyl-6-(phenylethynyl)pyridine hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64158	"" []	3175707	\N	\N	EFO	5	EFO	experimental factor	2-methyl-6-(phenylethynyl)pyridine hydrochloride
CHEBI:64162	\N	\N	"" []	CHEBI:64162	"" []	62769	\N	\N	EFO	0	EFO	N-methylquipazine dimaleate	N-methylquipazine dimaleate
CHEBI:23888	CHEBI:64162	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64162	"" []	202226	\N	\N	EFO	1	EFO	drug	N-methylquipazine dimaleate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64162	"" []	555131	\N	\N	EFO	2	EFO	chemical compound	N-methylquipazine dimaleate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64162	"" []	1137814	\N	\N	EFO	3	EFO	chemical entity	N-methylquipazine dimaleate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64162	"" []	2020942	\N	\N	EFO	4	EFO	material entity	N-methylquipazine dimaleate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64162	"" []	3175708	\N	\N	EFO	5	EFO	experimental factor	N-methylquipazine dimaleate
CHEBI:64163	\N	\N	"" []	CHEBI:64163	"" []	62770	\N	\N	EFO	0	EFO	diquat	diquat
CHEBI:37577	CHEBI:64163	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64163	"" []	202227	\N	\N	EFO	1	EFO	chemical compound	diquat
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64163	"" []	555132	\N	\N	EFO	2	EFO	chemical entity	diquat
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64163	"" []	1137815	\N	\N	EFO	3	EFO	material entity	diquat
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64163	"" []	2020943	\N	\N	EFO	4	EFO	experimental factor	diquat
CHEBI:64165	\N	\N	"" []	CHEBI:64165	"" []	62771	\N	\N	EFO	0	EFO	clobenpropit dihydrobromide	clobenpropit dihydrobromide
EFO:0004415	CHEBI:64165	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64165	"" []	202228	\N	\N	EFO	1	EFO	ionic salt	clobenpropit dihydrobromide
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64165	"" []	555133	\N	\N	EFO	2	EFO	chemical compound	clobenpropit dihydrobromide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64165	"" []	1137816	\N	\N	EFO	3	EFO	chemical entity	clobenpropit dihydrobromide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64165	"" []	2020944	\N	\N	EFO	4	EFO	material entity	clobenpropit dihydrobromide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64165	"" []	3175709	\N	\N	EFO	5	EFO	experimental factor	clobenpropit dihydrobromide
CHEBI:64187	\N	\N	"" []	CHEBI:64187	"" []	62772	\N	\N	EFO	0	EFO	benserazide	benserazide
CHEBI:23888	CHEBI:64187	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64187	"" []	202229	\N	\N	EFO	1	EFO	drug	benserazide
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64187	"" []	555134	\N	\N	EFO	2	EFO	chemical compound	benserazide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64187	"" []	1137817	\N	\N	EFO	3	EFO	chemical entity	benserazide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64187	"" []	2020945	\N	\N	EFO	4	EFO	material entity	benserazide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64187	"" []	3175710	\N	\N	EFO	5	EFO	experimental factor	benserazide
CHEBI:64191	\N	\N	"" []	CHEBI:64191	"" []	62773	\N	\N	EFO	0	EFO	nafadotride	nafadotride
CHEBI:23888	CHEBI:64191	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64191	"" []	202230	\N	\N	EFO	1	EFO	drug	nafadotride
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64191	"" []	555135	\N	\N	EFO	2	EFO	chemical compound	nafadotride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64191	"" []	1137818	\N	\N	EFO	3	EFO	chemical entity	nafadotride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64191	"" []	2020946	\N	\N	EFO	4	EFO	material entity	nafadotride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64191	"" []	3175711	\N	\N	EFO	5	EFO	experimental factor	nafadotride
CHEBI:64194	\N	\N	"" []	CHEBI:64194	"" []	62774	\N	\N	EFO	0	EFO	paroxetine maleate	paroxetine maleate
CHEBI:23888	CHEBI:64194	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64194	"" []	202231	\N	\N	EFO	1	EFO	drug	paroxetine maleate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64194	"" []	555136	\N	\N	EFO	2	EFO	chemical compound	paroxetine maleate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64194	"" []	1137819	\N	\N	EFO	3	EFO	chemical entity	paroxetine maleate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64194	"" []	2020947	\N	\N	EFO	4	EFO	material entity	paroxetine maleate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64194	"" []	3175712	\N	\N	EFO	5	EFO	experimental factor	paroxetine maleate
CHEBI:64195	\N	\N	"" []	CHEBI:64195	"" []	62775	\N	\N	EFO	0	EFO	ritanserin	ritanserin
CHEBI:64207	CHEBI:64195	\N	"" []	CHEBI:64195	"" []	202232	\N	\N	EFO	1	EFO	spiramide	ritanserin
CHEBI:23888	CHEBI:64207	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64195	"" []	555137	\N	\N	EFO	2	EFO	drug	ritanserin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64195	"" []	1137820	\N	\N	EFO	3	EFO	chemical compound	ritanserin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64195	"" []	2020948	\N	\N	EFO	4	EFO	chemical entity	ritanserin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64195	"" []	3175713	\N	\N	EFO	5	EFO	material entity	ritanserin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64195	"" []	4386553	\N	\N	EFO	6	EFO	experimental factor	ritanserin
CHEBI:64198	\N	\N	"" []	CHEBI:64198	"" []	62776	\N	\N	EFO	0	EFO	dimercaprol	dimercaprol
CHEBI:37577	CHEBI:64198	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64198	"" []	202233	\N	\N	EFO	1	EFO	chemical compound	dimercaprol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64198	"" []	555138	\N	\N	EFO	2	EFO	chemical entity	dimercaprol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64198	"" []	1137821	\N	\N	EFO	3	EFO	material entity	dimercaprol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64198	"" []	2020949	\N	\N	EFO	4	EFO	experimental factor	dimercaprol
CHEBI:64199	\N	\N	"" []	CHEBI:64199	"" []	62777	\N	\N	EFO	0	EFO	carmoxirole hydrochloride	carmoxirole hydrochloride
EFO:0004415	CHEBI:64199	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:64199	"" []	202234	\N	\N	EFO	1	EFO	ionic salt	carmoxirole hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64199	"" []	555139	\N	\N	EFO	2	EFO	chemical compound	carmoxirole hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64199	"" []	1137822	\N	\N	EFO	3	EFO	chemical entity	carmoxirole hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64199	"" []	2020950	\N	\N	EFO	4	EFO	material entity	carmoxirole hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64199	"" []	3175714	\N	\N	EFO	5	EFO	experimental factor	carmoxirole hydrochloride
CHEBI:64202	\N	\N	"" []	CHEBI:64202	"" []	62778	\N	\N	EFO	0	EFO	methiothepin maleate	methiothepin maleate
CHEBI:37577	CHEBI:64202	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64202	"" []	202235	\N	\N	EFO	1	EFO	chemical compound	methiothepin maleate
CHEBI:48279	CHEBI:64202	\N	"Drugs that bind to but do not activate serotonin receptors, thereby blocking the actions of serotonin or serotonergic agonists." []	CHEBI:64202	"" []	202236	\N	\N	EFO	1	EFO	serotonergic antagonist	methiothepin maleate
CHEBI:48561	CHEBI:64202	\N	"A drug that binds to but does not activate dopamine receptors, thereby blocking the actions of dopamine or exogenous agonists." []	CHEBI:64202	"" []	202237	\N	\N	EFO	1	EFO	dopaminergic antagonist	methiothepin maleate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64202	"" []	555140	\N	\N	EFO	2	EFO	chemical entity	methiothepin maleate
EFO:0001899	CHEBI:48279	\N	"" []	CHEBI:64202	"" []	555141	\N	\N	EFO	2	EFO	drug role	methiothepin maleate
EFO:0001899	CHEBI:48561	\N	"" []	CHEBI:64202	"" []	555142	\N	\N	EFO	2	EFO	drug role	methiothepin maleate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64202	"" []	1137823	\N	\N	EFO	3	EFO	material entity	methiothepin maleate
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	CHEBI:64202	"" []	1137824	\N	\N	EFO	3	EFO	chemical role	methiothepin maleate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64202	"" []	2020951	\N	\N	EFO	4	EFO	experimental factor	methiothepin maleate
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	CHEBI:64202	"" []	2020952	\N	\N	EFO	4	EFO	role	methiothepin maleate
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	CHEBI:64202	"" []	3175715	\N	\N	EFO	5	EFO	material property	methiothepin maleate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64202	"" []	4386554	\N	\N	EFO	6	EFO	experimental factor	methiothepin maleate
CHEBI:64206	\N	\N	"" []	CHEBI:64206	"" []	62779	\N	\N	EFO	0	EFO	bromochloroacetic acid	bromochloroacetic acid
EFO:0004416	CHEBI:64206	\N	"" []	CHEBI:64206	"" []	202238	\N	\N	EFO	1	EFO	acid	bromochloroacetic acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64206	"" []	555143	\N	\N	EFO	2	EFO	chemical compound	bromochloroacetic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64206	"" []	1137825	\N	\N	EFO	3	EFO	chemical entity	bromochloroacetic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64206	"" []	2020953	\N	\N	EFO	4	EFO	material entity	bromochloroacetic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64206	"" []	3175716	\N	\N	EFO	5	EFO	experimental factor	bromochloroacetic acid
CHEBI:64207	\N	\N	"" []	CHEBI:64207	"" []	62780	\N	\N	EFO	0	EFO	spiramide	spiramide
CHEBI:23888	CHEBI:64207	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64207	"" []	202239	\N	\N	EFO	1	EFO	drug	spiramide
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64207	"" []	555144	\N	\N	EFO	2	EFO	chemical compound	spiramide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64207	"" []	1137826	\N	\N	EFO	3	EFO	chemical entity	spiramide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64207	"" []	2020954	\N	\N	EFO	4	EFO	material entity	spiramide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64207	"" []	3175717	\N	\N	EFO	5	EFO	experimental factor	spiramide
CHEBI:64208	\N	\N	"" []	CHEBI:64208	"" []	62781	\N	\N	EFO	0	EFO	(2Z,3Z)-bis\\\\\\{amino[(2-aminophenyl)sulfanyl]methylidene\\\\\\}butanedinitrile	(2Z,3Z)-bis\\\\\\{amino[(2-aminophenyl)sulfanyl]methylidene\\\\\\}butanedinitrile
CHEBI:23888	CHEBI:64208	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64208	"" []	202240	\N	\N	EFO	1	EFO	drug	(2Z,3Z)-bis\\\\\\{amino[(2-aminophenyl)sulfanyl]methylidene\\\\\\}butanedinitrile
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64208	"" []	555145	\N	\N	EFO	2	EFO	chemical compound	(2Z,3Z)-bis\\\\\\{amino[(2-aminophenyl)sulfanyl]methylidene\\\\\\}butanedinitrile
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64208	"" []	1137827	\N	\N	EFO	3	EFO	chemical entity	(2Z,3Z)-bis\\\\\\{amino[(2-aminophenyl)sulfanyl]methylidene\\\\\\}butanedinitrile
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64208	"" []	2020955	\N	\N	EFO	4	EFO	material entity	(2Z,3Z)-bis\\\\\\{amino[(2-aminophenyl)sulfanyl]methylidene\\\\\\}butanedinitrile
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64208	"" []	3175718	\N	\N	EFO	5	EFO	experimental factor	(2Z,3Z)-bis\\\\\\{amino[(2-aminophenyl)sulfanyl]methylidene\\\\\\}butanedinitrile
CHEBI:64210	\N	\N	"" []	CHEBI:64210	"" []	62782	\N	\N	EFO	0	EFO	4-\\\\\\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\\\\\\}benzoic acid	4-\\\\\\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\\\\\\}benzoic acid
CHEBI:37577	CHEBI:64210	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64210	"" []	202241	\N	\N	EFO	1	EFO	chemical compound	4-\\\\\\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\\\\\\}benzoic acid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64210	"" []	555146	\N	\N	EFO	2	EFO	chemical entity	4-\\\\\\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\\\\\\}benzoic acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64210	"" []	1137828	\N	\N	EFO	3	EFO	material entity	4-\\\\\\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\\\\\\}benzoic acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64210	"" []	2020956	\N	\N	EFO	4	EFO	experimental factor	4-\\\\\\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\\\\\\}benzoic acid
CHEBI:64211	\N	\N	"" []	CHEBI:64211	"" []	62783	\N	\N	EFO	0	EFO	8-bromo-3',5'-cyclic AMP	8-bromo-3',5'-cyclic AMP
CHEBI:37577	CHEBI:64211	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64211	"" []	202242	\N	\N	EFO	1	EFO	chemical compound	8-bromo-3',5'-cyclic AMP
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64211	"" []	555147	\N	\N	EFO	2	EFO	chemical entity	8-bromo-3',5'-cyclic AMP
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64211	"" []	1137829	\N	\N	EFO	3	EFO	material entity	8-bromo-3',5'-cyclic AMP
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64211	"" []	2020957	\N	\N	EFO	4	EFO	experimental factor	8-bromo-3',5'-cyclic AMP
CHEBI:64212	\N	\N	"" []	CHEBI:64212	"" []	62784	\N	\N	EFO	0	EFO	sulindac sulfone	sulindac sulfone
CHEBI:37577	CHEBI:64212	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64212	"" []	202243	\N	\N	EFO	1	EFO	chemical compound	sulindac sulfone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64212	"" []	555148	\N	\N	EFO	2	EFO	chemical entity	sulindac sulfone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64212	"" []	1137830	\N	\N	EFO	3	EFO	material entity	sulindac sulfone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64212	"" []	2020958	\N	\N	EFO	4	EFO	experimental factor	sulindac sulfone
CHEBI:64213	\N	\N	"" []	CHEBI:64213	"" []	62785	\N	\N	EFO	0	EFO	cantharidin	cantharidin
CHEBI:37577	CHEBI:64213	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64213	"" []	202244	\N	\N	EFO	1	EFO	chemical compound	cantharidin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64213	"" []	555149	\N	\N	EFO	2	EFO	chemical entity	cantharidin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64213	"" []	1137831	\N	\N	EFO	3	EFO	material entity	cantharidin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64213	"" []	2020959	\N	\N	EFO	4	EFO	experimental factor	cantharidin
CHEBI:64215	\N	\N	"" []	CHEBI:64215	"" []	62786	\N	\N	EFO	0	EFO	2,3-dimethoxynaphthalene-1,4-dione	2,3-dimethoxynaphthalene-1,4-dione
CHEBI:37577	CHEBI:64215	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64215	"" []	202245	\N	\N	EFO	1	EFO	chemical compound	2,3-dimethoxynaphthalene-1,4-dione
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64215	"" []	555150	\N	\N	EFO	2	EFO	chemical entity	2,3-dimethoxynaphthalene-1,4-dione
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64215	"" []	1137832	\N	\N	EFO	3	EFO	material entity	2,3-dimethoxynaphthalene-1,4-dione
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64215	"" []	2020960	\N	\N	EFO	4	EFO	experimental factor	2,3-dimethoxynaphthalene-1,4-dione
CHEBI:64216	\N	\N	"" []	CHEBI:64216	"" []	62787	\N	\N	EFO	0	EFO	metergoline	metergoline
CHEBI:64207	CHEBI:64216	\N	"" []	CHEBI:64216	"" []	202246	\N	\N	EFO	1	EFO	spiramide	metergoline
CHEBI:23888	CHEBI:64207	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64216	"" []	555151	\N	\N	EFO	2	EFO	drug	metergoline
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64216	"" []	1137833	\N	\N	EFO	3	EFO	chemical compound	metergoline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64216	"" []	2020961	\N	\N	EFO	4	EFO	chemical entity	metergoline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64216	"" []	3175719	\N	\N	EFO	5	EFO	material entity	metergoline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64216	"" []	4386555	\N	\N	EFO	6	EFO	experimental factor	metergoline
CHEBI:64227	\N	\N	"" []	CHEBI:64227	"" []	62788	\N	\N	EFO	0	EFO	ciglitazone	ciglitazone
CHEBI:23888	CHEBI:64227	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:64227	"" []	202247	\N	\N	EFO	1	EFO	drug	ciglitazone
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64227	"" []	555152	\N	\N	EFO	2	EFO	chemical compound	ciglitazone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64227	"" []	1137834	\N	\N	EFO	3	EFO	chemical entity	ciglitazone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64227	"" []	2020962	\N	\N	EFO	4	EFO	material entity	ciglitazone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64227	"" []	3175720	\N	\N	EFO	5	EFO	experimental factor	ciglitazone
CHEBI:6437	\N	\N	"" []	CHEBI:6437	"" []	62789	\N	\N	EFO	0	EFO	levetiracetam	levetiracetam
CHEBI:23888	CHEBI:6437	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:6437	"" []	202248	\N	\N	EFO	1	EFO	drug	levetiracetam
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6437	"" []	555153	\N	\N	EFO	2	EFO	chemical compound	levetiracetam
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6437	"" []	1137835	\N	\N	EFO	3	EFO	chemical entity	levetiracetam
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6437	"" []	2020963	\N	\N	EFO	4	EFO	material entity	levetiracetam
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6437	"" []	3175721	\N	\N	EFO	5	EFO	experimental factor	levetiracetam
CHEBI:64645	\N	\N	"Amyloid beta (A? or Abeta) is a peptide of 3643 amino acids that is processed from the Amyloid precursor protein. While it is most commonly known in association with Alzheimer's disease, it does not exist specifically to cause disease. Evidence has been found that A? has multiple non-disease activities.[1]" []	CHEBI:64645	"Amyloid beta (A? or Abeta) is a peptide of 3643 amino acids that is processed from the Amyloid precursor protein. While it is most commonly known in association with Alzheimer's disease, it does not exist specifically to cause disease. Evidence has been found that A? has multiple non-disease activities.[1]" []	62790	\N	\N	EFO	0	EFO	beta amyloid	beta amyloid
CHEBI:37577	CHEBI:64645	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:64645	"Amyloid beta (A? or Abeta) is a peptide of 3643 amino acids that is processed from the Amyloid precursor protein. While it is most commonly known in association with Alzheimer's disease, it does not exist specifically to cause disease. Evidence has been found that A? has multiple non-disease activities.[1]" []	202249	\N	\N	EFO	1	EFO	chemical compound	beta amyloid
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:64645	"Amyloid beta (A? or Abeta) is a peptide of 3643 amino acids that is processed from the Amyloid precursor protein. While it is most commonly known in association with Alzheimer's disease, it does not exist specifically to cause disease. Evidence has been found that A? has multiple non-disease activities.[1]" []	555154	\N	\N	EFO	2	EFO	chemical entity	beta amyloid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:64645	"Amyloid beta (A? or Abeta) is a peptide of 3643 amino acids that is processed from the Amyloid precursor protein. While it is most commonly known in association with Alzheimer's disease, it does not exist specifically to cause disease. Evidence has been found that A? has multiple non-disease activities.[1]" []	1137836	\N	\N	EFO	3	EFO	material entity	beta amyloid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:64645	"Amyloid beta (A? or Abeta) is a peptide of 3643 amino acids that is processed from the Amyloid precursor protein. While it is most commonly known in association with Alzheimer's disease, it does not exist specifically to cause disease. Evidence has been found that A? has multiple non-disease activities.[1]" []	2020964	\N	\N	EFO	4	EFO	experimental factor	beta amyloid
CHEBI:6472	\N	\N	"" []	CHEBI:6472	"" []	62791	\N	\N	EFO	0	EFO	lincomycin	lincomycin
CHEBI:37577	CHEBI:6472	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6472	"" []	202250	\N	\N	EFO	1	EFO	chemical compound	lincomycin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6472	"" []	555155	\N	\N	EFO	2	EFO	chemical entity	lincomycin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6472	"" []	1137837	\N	\N	EFO	3	EFO	material entity	lincomycin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6472	"" []	2020965	\N	\N	EFO	4	EFO	experimental factor	lincomycin
CHEBI:6498	\N	\N	"A lipoxin that has formula C20H32O5." []	CHEBI:6498	"A lipoxin that has formula C20H32O5." []	62792	\N	\N	EFO	0	EFO	lipoxin A4	lipoxin A4
CHEBI:37577	CHEBI:6498	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6498	"A lipoxin that has formula C20H32O5." []	202251	\N	\N	EFO	1	EFO	chemical compound	lipoxin A4
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6498	"A lipoxin that has formula C20H32O5." []	555156	\N	\N	EFO	2	EFO	chemical entity	lipoxin A4
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6498	"A lipoxin that has formula C20H32O5." []	1137838	\N	\N	EFO	3	EFO	material entity	lipoxin A4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6498	"A lipoxin that has formula C20H32O5." []	2020966	\N	\N	EFO	4	EFO	experimental factor	lipoxin A4
CHEBI:65329	\N	\N	"A chromone substituted with a phenyl group at position 8 and a morpholine group at position 2." []	CHEBI:65329	"A chromone substituted with a phenyl group at position 8 and a morpholine group at position 2." []	62793	\N	\N	EFO	0	EFO	LY294002	LY294002
CHEBI:37577	CHEBI:65329	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:65329	"A chromone substituted with a phenyl group at position 8 and a morpholine group at position 2." []	202252	\N	\N	EFO	1	EFO	chemical compound	LY294002
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:65329	"A chromone substituted with a phenyl group at position 8 and a morpholine group at position 2." []	555157	\N	\N	EFO	2	EFO	chemical entity	LY294002
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:65329	"A chromone substituted with a phenyl group at position 8 and a morpholine group at position 2." []	1137839	\N	\N	EFO	3	EFO	material entity	LY294002
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:65329	"A chromone substituted with a phenyl group at position 8 and a morpholine group at position 2." []	2020967	\N	\N	EFO	4	EFO	experimental factor	LY294002
CHEBI:6541	\N	\N	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	CHEBI:6541	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	62794	\N	\N	EFO	0	EFO	losartan	losartan
CHEBI:23888	CHEBI:6541	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:6541	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	202253	\N	\N	EFO	1	EFO	drug	losartan
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6541	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	555158	\N	\N	EFO	2	EFO	chemical compound	losartan
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6541	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	1137840	\N	\N	EFO	3	EFO	chemical entity	losartan
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6541	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	2020968	\N	\N	EFO	4	EFO	material entity	losartan
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6541	"A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the  9th position from the methyl end, with the double bond in the trans- configuration." []	3175722	\N	\N	EFO	5	EFO	experimental factor	losartan
CHEBI:6550	\N	\N	"" []	CHEBI:6550	"" []	62795	\N	\N	EFO	0	EFO	loxtidine	loxtidine
CHEBI:23888	CHEBI:6550	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:6550	"" []	202254	\N	\N	EFO	1	EFO	drug	loxtidine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6550	"" []	555159	\N	\N	EFO	2	EFO	chemical compound	loxtidine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6550	"" []	1137841	\N	\N	EFO	3	EFO	chemical entity	loxtidine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6550	"" []	2020969	\N	\N	EFO	4	EFO	material entity	loxtidine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6550	"" []	3175723	\N	\N	EFO	5	EFO	experimental factor	loxtidine
CHEBI:6636	\N	\N	"A magnesium salt comprising of two chlorine atoms bound to a magnesium atom." []	CHEBI:6636	"A magnesium salt comprising of two chlorine atoms bound to a magnesium atom." []	62796	\N	\N	EFO	0	EFO	magnesium dichloride	magnesium dichloride
CHEBI:24431	CHEBI:6636	\N	"" []	CHEBI:6636	"A magnesium salt comprising of two chlorine atoms bound to a magnesium atom." []	202255	\N	\N	EFO	1	EFO	chemical entity	magnesium dichloride
CHEBI:37577	CHEBI:6636	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6636	"A magnesium salt comprising of two chlorine atoms bound to a magnesium atom." []	202256	\N	\N	EFO	1	EFO	chemical compound	magnesium dichloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6636	"A magnesium salt comprising of two chlorine atoms bound to a magnesium atom." []	555160	\N	\N	EFO	2	EFO	chemical entity	magnesium dichloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6636	"A magnesium salt comprising of two chlorine atoms bound to a magnesium atom." []	1137842	\N	\N	EFO	3	EFO	material entity	magnesium dichloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6636	"A magnesium salt comprising of two chlorine atoms bound to a magnesium atom." []	2020970	\N	\N	EFO	4	EFO	experimental factor	magnesium dichloride
CHEBI:6651	\N	\N	"" []	CHEBI:6651	"" []	62797	\N	\N	EFO	0	EFO	malathion	malathion
CHEBI:37577	CHEBI:6651	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6651	"" []	202257	\N	\N	EFO	1	EFO	chemical compound	malathion
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6651	"" []	555161	\N	\N	EFO	2	EFO	chemical entity	malathion
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6651	"" []	1137843	\N	\N	EFO	3	EFO	material entity	malathion
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6651	"" []	2020971	\N	\N	EFO	4	EFO	experimental factor	malathion
CHEBI:6775	\N	\N	"" []	CHEBI:6775	"" []	62798	\N	\N	EFO	0	EFO	mesalamine	mesalamine
CHEBI:23888	CHEBI:6775	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:6775	"" []	202258	\N	\N	EFO	1	EFO	drug	mesalamine
EFO:0004417	CHEBI:6775	\N	"" []	CHEBI:6775	"" []	202259	\N	\N	EFO	1	EFO	amide	mesalamine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6775	"" []	555162	\N	\N	EFO	2	EFO	chemical compound	mesalamine
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6775	"" []	555163	\N	\N	EFO	2	EFO	chemical compound	mesalamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6775	"" []	1137844	\N	\N	EFO	3	EFO	chemical entity	mesalamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6775	"" []	2020972	\N	\N	EFO	4	EFO	material entity	mesalamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6775	"" []	3175724	\N	\N	EFO	5	EFO	experimental factor	mesalamine
CHEBI:6801	\N	\N	"A guanidine that has formula C4H11N5." []	CHEBI:6801	"A guanidine that has formula C4H11N5." []	62799	\N	\N	EFO	0	EFO	metformin	metformin
CHEBI:23888	CHEBI:6801	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:6801	"A guanidine that has formula C4H11N5." []	202260	\N	\N	EFO	1	EFO	drug	metformin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6801	"A guanidine that has formula C4H11N5." []	555164	\N	\N	EFO	2	EFO	chemical compound	metformin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6801	"A guanidine that has formula C4H11N5." []	1137845	\N	\N	EFO	3	EFO	chemical entity	metformin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6801	"A guanidine that has formula C4H11N5." []	2020973	\N	\N	EFO	4	EFO	material entity	metformin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6801	"A guanidine that has formula C4H11N5." []	3175725	\N	\N	EFO	5	EFO	experimental factor	metformin
CHEBI:6809	\N	\N	"" []	CHEBI:6809	"" []	62800	\N	\N	EFO	0	EFO	methamphetamine	methamphetamine
CHEBI:23888	CHEBI:6809	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:6809	"" []	202261	\N	\N	EFO	1	EFO	drug	methamphetamine
EFO:0004417	CHEBI:6809	\N	"" []	CHEBI:6809	"" []	202262	\N	\N	EFO	1	EFO	amide	methamphetamine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6809	"" []	555165	\N	\N	EFO	2	EFO	chemical compound	methamphetamine
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6809	"" []	555166	\N	\N	EFO	2	EFO	chemical compound	methamphetamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6809	"" []	1137846	\N	\N	EFO	3	EFO	chemical entity	methamphetamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6809	"" []	2020974	\N	\N	EFO	4	EFO	material entity	methamphetamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6809	"" []	3175726	\N	\N	EFO	5	EFO	experimental factor	methamphetamine
CHEBI:6820	\N	\N	"An ethylenediamine derivative that has formula C14H19N3S." []	CHEBI:6820	"An ethylenediamine derivative that has formula C14H19N3S." []	62801	\N	\N	EFO	0	EFO	methapyrilene	methapyrilene
CHEBI:37577	CHEBI:6820	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6820	"An ethylenediamine derivative that has formula C14H19N3S." []	202263	\N	\N	EFO	1	EFO	chemical compound	methapyrilene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6820	"An ethylenediamine derivative that has formula C14H19N3S." []	555167	\N	\N	EFO	2	EFO	chemical entity	methapyrilene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6820	"An ethylenediamine derivative that has formula C14H19N3S." []	1137847	\N	\N	EFO	3	EFO	material entity	methapyrilene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6820	"An ethylenediamine derivative that has formula C14H19N3S." []	2020975	\N	\N	EFO	4	EFO	experimental factor	methapyrilene
CHEBI:6842	\N	\N	"An organochlorine insecticide that has formula C16H15Cl3O2." []	CHEBI:6842	"An organochlorine insecticide that has formula C16H15Cl3O2." []	62802	\N	\N	EFO	0	EFO	methoxychlor	methoxychlor
CHEBI:37577	CHEBI:6842	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6842	"An organochlorine insecticide that has formula C16H15Cl3O2." []	202264	\N	\N	EFO	1	EFO	chemical compound	methoxychlor
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6842	"An organochlorine insecticide that has formula C16H15Cl3O2." []	555168	\N	\N	EFO	2	EFO	chemical entity	methoxychlor
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6842	"An organochlorine insecticide that has formula C16H15Cl3O2." []	1137848	\N	\N	EFO	3	EFO	material entity	methoxychlor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6842	"An organochlorine insecticide that has formula C16H15Cl3O2." []	2020976	\N	\N	EFO	4	EFO	experimental factor	methoxychlor
CHEBI:6888	\N	\N	"" []	CHEBI:6888	"" []	62803	\N	\N	EFO	0	EFO	6alpha-methylprednisolone	6alpha-methylprednisolone
CHEBI:23888	CHEBI:6888	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:6888	"" []	202265	\N	\N	EFO	1	EFO	drug	6alpha-methylprednisolone
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6888	"" []	555169	\N	\N	EFO	2	EFO	chemical compound	6alpha-methylprednisolone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6888	"" []	1137849	\N	\N	EFO	3	EFO	chemical entity	6alpha-methylprednisolone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6888	"" []	2020977	\N	\N	EFO	4	EFO	material entity	6alpha-methylprednisolone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6888	"" []	3175727	\N	\N	EFO	5	EFO	experimental factor	6alpha-methylprednisolone
CHEBI:6904	\N	\N	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	CHEBI:6904	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	62804	\N	\N	EFO	0	EFO	metoprolol	metoprolol
CHEBI:23888	CHEBI:6904	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:6904	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	202266	\N	\N	EFO	1	EFO	drug	metoprolol
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6904	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	555170	\N	\N	EFO	2	EFO	chemical compound	metoprolol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6904	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	1137850	\N	\N	EFO	3	EFO	chemical entity	metoprolol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6904	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	2020978	\N	\N	EFO	4	EFO	material entity	metoprolol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6904	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	3175728	\N	\N	EFO	5	EFO	experimental factor	metoprolol
CHEBI:6912	\N	\N	"" []	CHEBI:6912	"" []	62805	\N	\N	EFO	0	EFO	alpha-methyl-L-tyrosine	alpha-methyl-L-tyrosine
CHEBI:37577	CHEBI:6912	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6912	"" []	202267	\N	\N	EFO	1	EFO	chemical compound	alpha-methyl-L-tyrosine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6912	"" []	555171	\N	\N	EFO	2	EFO	chemical entity	alpha-methyl-L-tyrosine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6912	"" []	1137851	\N	\N	EFO	3	EFO	material entity	alpha-methyl-L-tyrosine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6912	"" []	2020979	\N	\N	EFO	4	EFO	experimental factor	alpha-methyl-L-tyrosine
CHEBI:6916	\N	\N	"" []	CHEBI:6916	"" []	62806	\N	\N	EFO	0	EFO	mexiletine	mexiletine
CHEBI:37577	CHEBI:6916	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6916	"" []	202268	\N	\N	EFO	1	EFO	chemical compound	mexiletine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6916	"" []	555172	\N	\N	EFO	2	EFO	chemical entity	mexiletine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6916	"" []	1137852	\N	\N	EFO	3	EFO	material entity	mexiletine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6916	"" []	2020980	\N	\N	EFO	4	EFO	experimental factor	mexiletine
CHEBI:6923	\N	\N	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	CHEBI:6923	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	62807	\N	\N	EFO	0	EFO	miconazole	miconazole
CHEBI:37577	CHEBI:6923	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6923	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	202269	\N	\N	EFO	1	EFO	chemical compound	miconazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6923	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	555173	\N	\N	EFO	2	EFO	chemical entity	miconazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6923	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	1137853	\N	\N	EFO	3	EFO	material entity	miconazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6923	"Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)" []	2020981	\N	\N	EFO	4	EFO	experimental factor	miconazole
CHEBI:6980	\N	\N	"" []	CHEBI:6980	"" []	62808	\N	\N	EFO	0	EFO	monocrotaline	monocrotaline
CHEBI:37577	CHEBI:6980	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:6980	"" []	202270	\N	\N	EFO	1	EFO	chemical compound	monocrotaline
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:6980	"" []	555174	\N	\N	EFO	2	EFO	chemical entity	monocrotaline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:6980	"" []	1137854	\N	\N	EFO	3	EFO	material entity	monocrotaline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:6980	"" []	2020982	\N	\N	EFO	4	EFO	experimental factor	monocrotaline
CHEBI:7044	\N	\N	"" []	CHEBI:7044	"" []	62809	\N	\N	EFO	0	EFO	myoglobin	myoglobin
CHEBI:36080	CHEBI:7044	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	CHEBI:7044	"" []	202271	\N	\N	EFO	1	EFO	protein	myoglobin
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7044	"" []	555175	\N	\N	EFO	2	EFO	chemical compound	myoglobin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7044	"" []	1137855	\N	\N	EFO	3	EFO	chemical entity	myoglobin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7044	"" []	2020983	\N	\N	EFO	4	EFO	material entity	myoglobin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7044	"" []	3175729	\N	\N	EFO	5	EFO	experimental factor	myoglobin
CHEBI:71415	\N	\N	"" []	CHEBI:71415	"" []	62810	\N	\N	EFO	0	EFO	nitrofurantoin	nitrofurantoin
CHEBI:37577	CHEBI:71415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:71415	"" []	202272	\N	\N	EFO	1	EFO	chemical compound	nitrofurantoin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:71415	"" []	555176	\N	\N	EFO	2	EFO	chemical entity	nitrofurantoin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:71415	"" []	1137856	\N	\N	EFO	3	EFO	material entity	nitrofurantoin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:71415	"" []	2020984	\N	\N	EFO	4	EFO	experimental factor	nitrofurantoin
CHEBI:73177	\N	\N	"A member of the class of triazoles that is butan-2-ol which is substituted at positions 2, 3, and 4 by phenyl, 1H-1,2,4-triazol-1-yl and p-chlorophenyl groups, respectively. An inhibitor of brassinosteroid biosynthesis." []	CHEBI:73177	"A member of the class of triazoles that is butan-2-ol which is substituted at positions 2, 3, and 4 by phenyl, 1H-1,2,4-triazol-1-yl and p-chlorophenyl groups, respectively. An inhibitor of brassinosteroid biosynthesis." []	62811	\N	\N	EFO	0	EFO	brassinazole	brassinazole
CHEBI:24532	CHEBI:73177	\N	"" []	CHEBI:73177	"A member of the class of triazoles that is butan-2-ol which is substituted at positions 2, 3, and 4 by phenyl, 1H-1,2,4-triazol-1-yl and p-chlorophenyl groups, respectively. An inhibitor of brassinosteroid biosynthesis." []	202273	\N	\N	EFO	1	EFO	organic heterocyclic compound	brassinazole
CHEBI:37577	CHEBI:24532	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:73177	"A member of the class of triazoles that is butan-2-ol which is substituted at positions 2, 3, and 4 by phenyl, 1H-1,2,4-triazol-1-yl and p-chlorophenyl groups, respectively. An inhibitor of brassinosteroid biosynthesis." []	555177	\N	\N	EFO	2	EFO	chemical compound	brassinazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:73177	"A member of the class of triazoles that is butan-2-ol which is substituted at positions 2, 3, and 4 by phenyl, 1H-1,2,4-triazol-1-yl and p-chlorophenyl groups, respectively. An inhibitor of brassinosteroid biosynthesis." []	1137857	\N	\N	EFO	3	EFO	chemical entity	brassinazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:73177	"A member of the class of triazoles that is butan-2-ol which is substituted at positions 2, 3, and 4 by phenyl, 1H-1,2,4-triazol-1-yl and p-chlorophenyl groups, respectively. An inhibitor of brassinosteroid biosynthesis." []	2020985	\N	\N	EFO	4	EFO	material entity	brassinazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:73177	"A member of the class of triazoles that is butan-2-ol which is substituted at positions 2, 3, and 4 by phenyl, 1H-1,2,4-triazol-1-yl and p-chlorophenyl groups, respectively. An inhibitor of brassinosteroid biosynthesis." []	3175730	\N	\N	EFO	5	EFO	experimental factor	brassinazole
CHEBI:7438	\N	\N	"A formamide compound having an N-methyl substituent." []	CHEBI:7438	"A formamide compound having an N-methyl substituent." []	62812	\N	\N	EFO	0	EFO	N-methylformamide	N-methylformamide
EFO:0004417	CHEBI:7438	\N	"" []	CHEBI:7438	"A formamide compound having an N-methyl substituent." []	202274	\N	\N	EFO	1	EFO	amide	N-methylformamide
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7438	"A formamide compound having an N-methyl substituent." []	555178	\N	\N	EFO	2	EFO	chemical compound	N-methylformamide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7438	"A formamide compound having an N-methyl substituent." []	1137858	\N	\N	EFO	3	EFO	chemical entity	N-methylformamide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7438	"A formamide compound having an N-methyl substituent." []	2020986	\N	\N	EFO	4	EFO	material entity	N-methylformamide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7438	"A formamide compound having an N-methyl substituent." []	3175731	\N	\N	EFO	5	EFO	experimental factor	N-methylformamide
CHEBI:7466	\N	\N	"" []	CHEBI:7466	"" []	62813	\N	\N	EFO	0	EFO	nandrolone	nandrolone
CHEBI:23888	CHEBI:7466	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:7466	"" []	202275	\N	\N	EFO	1	EFO	drug	nandrolone
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7466	"" []	555179	\N	\N	EFO	2	EFO	chemical compound	nandrolone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7466	"" []	1137859	\N	\N	EFO	3	EFO	chemical entity	nandrolone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7466	"" []	2020987	\N	\N	EFO	4	EFO	material entity	nandrolone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7466	"" []	3175732	\N	\N	EFO	5	EFO	experimental factor	nandrolone
CHEBI:7476	\N	\N	"" []	CHEBI:7476	"" []	62814	\N	\N	EFO	0	EFO	naproxen	naproxen
CHEBI:37577	CHEBI:7476	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7476	"" []	202276	\N	\N	EFO	1	EFO	chemical compound	naproxen
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7476	"" []	555180	\N	\N	EFO	2	EFO	chemical entity	naproxen
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7476	"" []	1137860	\N	\N	EFO	3	EFO	material entity	naproxen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7476	"" []	2020988	\N	\N	EFO	4	EFO	experimental factor	naproxen
CHEBI:7565	\N	\N	"A dihydropyridine that has formula C17H18N2O6." []	CHEBI:7565	"A dihydropyridine that has formula C17H18N2O6." []	62815	\N	\N	EFO	0	EFO	nifedipine	nifedipine
CHEBI:37577	CHEBI:7565	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7565	"A dihydropyridine that has formula C17H18N2O6." []	202277	\N	\N	EFO	1	EFO	chemical compound	nifedipine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7565	"A dihydropyridine that has formula C17H18N2O6." []	555181	\N	\N	EFO	2	EFO	chemical entity	nifedipine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7565	"A dihydropyridine that has formula C17H18N2O6." []	1137861	\N	\N	EFO	3	EFO	material entity	nifedipine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7565	"A dihydropyridine that has formula C17H18N2O6." []	2020989	\N	\N	EFO	4	EFO	experimental factor	nifedipine
CHEBI:7575	\N	\N	"" []	CHEBI:7575	"" []	62816	\N	\N	EFO	0	EFO	nimodipine	nimodipine
CHEBI:23888	CHEBI:7575	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:7575	"" []	202278	\N	\N	EFO	1	EFO	drug	nimodipine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7575	"" []	555182	\N	\N	EFO	2	EFO	chemical compound	nimodipine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7575	"" []	1137862	\N	\N	EFO	3	EFO	chemical entity	nimodipine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7575	"" []	2020990	\N	\N	EFO	4	EFO	material entity	nimodipine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7575	"" []	3175733	\N	\N	EFO	5	EFO	experimental factor	nimodipine
CHEBI:7719	\N	\N	"A phenylalanine derivative that has formula C20H18ClNO6." []	CHEBI:7719	"A phenylalanine derivative that has formula C20H18ClNO6." []	62817	\N	\N	EFO	0	EFO	ochratoxin A	ochratoxin A
CHEBI:23888	CHEBI:7719	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:7719	"A phenylalanine derivative that has formula C20H18ClNO6." []	202279	\N	\N	EFO	1	EFO	drug	ochratoxin A
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7719	"A phenylalanine derivative that has formula C20H18ClNO6." []	555183	\N	\N	EFO	2	EFO	chemical compound	ochratoxin A
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7719	"A phenylalanine derivative that has formula C20H18ClNO6." []	1137863	\N	\N	EFO	3	EFO	chemical entity	ochratoxin A
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7719	"A phenylalanine derivative that has formula C20H18ClNO6." []	2020991	\N	\N	EFO	4	EFO	material entity	ochratoxin A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7719	"A phenylalanine derivative that has formula C20H18ClNO6." []	3175734	\N	\N	EFO	5	EFO	experimental factor	ochratoxin A
CHEBI:7735	\N	\N	"A benzodiazepine that has formula C17H20N4S." []	CHEBI:7735	"A benzodiazepine that has formula C17H20N4S." []	62818	\N	\N	EFO	0	EFO	olanzapine	olanzapine
CHEBI:23888	CHEBI:7735	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:7735	"A benzodiazepine that has formula C17H20N4S." []	202280	\N	\N	EFO	1	EFO	drug	olanzapine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7735	"A benzodiazepine that has formula C17H20N4S." []	555184	\N	\N	EFO	2	EFO	chemical compound	olanzapine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7735	"A benzodiazepine that has formula C17H20N4S." []	1137864	\N	\N	EFO	3	EFO	chemical entity	olanzapine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7735	"A benzodiazepine that has formula C17H20N4S." []	2020992	\N	\N	EFO	4	EFO	material entity	olanzapine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7735	"A benzodiazepine that has formula C17H20N4S." []	3175735	\N	\N	EFO	5	EFO	experimental factor	olanzapine
CHEBI:7772	\N	\N	"" []	CHEBI:7772	"" []	62819	\N	\N	EFO	0	EFO	omeprazole	omeprazole
CHEBI:37577	CHEBI:7772	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7772	"" []	202281	\N	\N	EFO	1	EFO	chemical compound	omeprazole
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7772	"" []	555185	\N	\N	EFO	2	EFO	chemical entity	omeprazole
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7772	"" []	1137865	\N	\N	EFO	3	EFO	material entity	omeprazole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7772	"" []	2020993	\N	\N	EFO	4	EFO	experimental factor	omeprazole
CHEBI:7798	\N	\N	"A cyclohexenecarboxylate ester that has formula C16H28N2O4." []	CHEBI:7798	"A cyclohexenecarboxylate ester that has formula C16H28N2O4." []	62820	\N	\N	EFO	0	EFO	oseltamivir	oseltamivir
CHEBI:23888	CHEBI:7798	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:7798	"A cyclohexenecarboxylate ester that has formula C16H28N2O4." []	202282	\N	\N	EFO	1	EFO	drug	oseltamivir
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7798	"A cyclohexenecarboxylate ester that has formula C16H28N2O4." []	555186	\N	\N	EFO	2	EFO	chemical compound	oseltamivir
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7798	"A cyclohexenecarboxylate ester that has formula C16H28N2O4." []	1137866	\N	\N	EFO	3	EFO	chemical entity	oseltamivir
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7798	"A cyclohexenecarboxylate ester that has formula C16H28N2O4." []	2020994	\N	\N	EFO	4	EFO	material entity	oseltamivir
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7798	"A cyclohexenecarboxylate ester that has formula C16H28N2O4." []	3175736	\N	\N	EFO	5	EFO	experimental factor	oseltamivir
CHEBI:7823	\N	\N	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	CHEBI:7823	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	62821	\N	\N	EFO	0	EFO	oxazepam	oxazepam
CHEBI:23888	CHEBI:7823	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:7823	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	202283	\N	\N	EFO	1	EFO	drug	oxazepam
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7823	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	555187	\N	\N	EFO	2	EFO	chemical compound	oxazepam
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7823	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	1137867	\N	\N	EFO	3	EFO	chemical entity	oxazepam
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7823	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	2020995	\N	\N	EFO	4	EFO	material entity	oxazepam
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7823	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	3175737	\N	\N	EFO	5	EFO	experimental factor	oxazepam
CHEBI:7936	\N	\N	"" []	CHEBI:7936	"" []	62822	\N	\N	EFO	0	EFO	paroxetine	paroxetine
CHEBI:37577	CHEBI:7936	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7936	"" []	202284	\N	\N	EFO	1	EFO	chemical compound	paroxetine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7936	"" []	555188	\N	\N	EFO	2	EFO	chemical entity	paroxetine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7936	"" []	1137868	\N	\N	EFO	3	EFO	material entity	paroxetine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7936	"" []	2020996	\N	\N	EFO	4	EFO	experimental factor	paroxetine
CHEBI:7939	\N	\N	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	CHEBI:7939	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	62823	\N	\N	EFO	0	EFO	parthenolide	parthenolide
CHEBI:23888	CHEBI:7939	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:7939	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	202285	\N	\N	EFO	1	EFO	drug	parthenolide
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7939	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	555189	\N	\N	EFO	2	EFO	chemical compound	parthenolide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7939	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	1137869	\N	\N	EFO	3	EFO	chemical entity	parthenolide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7939	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	2020997	\N	\N	EFO	4	EFO	material entity	parthenolide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7939	"Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity.  Aberrant expression of the gene may be involved in leukemia relapse." []	3175738	\N	\N	EFO	5	EFO	experimental factor	parthenolide
CHEBI:7959	\N	\N	"" []	CHEBI:7959	"" []	62824	\N	\N	EFO	0	EFO	D-penicillamine	D-penicillamine
EFO:0004417	CHEBI:7959	\N	"" []	CHEBI:7959	"" []	202286	\N	\N	EFO	1	EFO	amide	D-penicillamine
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:7959	"" []	555190	\N	\N	EFO	2	EFO	chemical compound	D-penicillamine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:7959	"" []	1137870	\N	\N	EFO	3	EFO	chemical entity	D-penicillamine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:7959	"" []	2020998	\N	\N	EFO	4	EFO	material entity	D-penicillamine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:7959	"" []	3175739	\N	\N	EFO	5	EFO	experimental factor	D-penicillamine
CHEBI:8021	\N	\N	"" []	CHEBI:8021	"" []	62825	\N	\N	EFO	0	EFO	pergolide mesylate	pergolide mesylate
EFO:0004415	CHEBI:8021	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:8021	"" []	202287	\N	\N	EFO	1	EFO	ionic salt	pergolide mesylate
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8021	"" []	555191	\N	\N	EFO	2	EFO	chemical compound	pergolide mesylate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8021	"" []	1137871	\N	\N	EFO	3	EFO	chemical entity	pergolide mesylate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8021	"" []	2020999	\N	\N	EFO	4	EFO	material entity	pergolide mesylate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8021	"" []	3175740	\N	\N	EFO	5	EFO	experimental factor	pergolide mesylate
CHEBI:8028	\N	\N	"" []	CHEBI:8028	"" []	62826	\N	\N	EFO	0	EFO	perphenazine	perphenazine
CHEBI:23888	CHEBI:8028	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:8028	"" []	202288	\N	\N	EFO	1	EFO	drug	perphenazine
CHEBI:28568	CHEBI:8028	\N	"" []	CHEBI:8028	"" []	202289	\N	\N	EFO	1	EFO	piperazine	perphenazine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8028	"" []	555192	\N	\N	EFO	2	EFO	chemical compound	perphenazine
CHEBI:24532	CHEBI:28568	\N	"" []	CHEBI:8028	"" []	555193	\N	\N	EFO	2	EFO	organic heterocyclic compound	perphenazine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8028	"" []	2021001	\N	\N	EFO	4	EFO	chemical entity	perphenazine
CHEBI:37577	CHEBI:24532	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8028	"" []	1137873	\N	\N	EFO	3	EFO	chemical compound	perphenazine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8028	"" []	2999166	\N	\N	EFO	5	EFO	material entity	perphenazine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8028	"" []	4132407	\N	\N	EFO	6	EFO	experimental factor	perphenazine
CHEBI:8050	\N	\N	"" []	CHEBI:8050	"" []	62827	\N	\N	EFO	0	EFO	phenacetin	phenacetin
CHEBI:37577	CHEBI:8050	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8050	"" []	202290	\N	\N	EFO	1	EFO	chemical compound	phenacetin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8050	"" []	555194	\N	\N	EFO	2	EFO	chemical entity	phenacetin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8050	"" []	1137874	\N	\N	EFO	3	EFO	material entity	phenacetin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8050	"" []	2021002	\N	\N	EFO	4	EFO	experimental factor	phenacetin
CHEBI:8069	\N	\N	"Barbituric acid substituted at C-5 by ethyl and phenyl groups." []	CHEBI:8069	"Barbituric acid substituted at C-5 by ethyl and phenyl groups." []	62828	\N	\N	EFO	0	EFO	phenobarbital	phenobarbital
CHEBI:37577	CHEBI:8069	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8069	"Barbituric acid substituted at C-5 by ethyl and phenyl groups." []	202291	\N	\N	EFO	1	EFO	chemical compound	phenobarbital
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8069	"Barbituric acid substituted at C-5 by ethyl and phenyl groups." []	555195	\N	\N	EFO	2	EFO	chemical entity	phenobarbital
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8069	"Barbituric acid substituted at C-5 by ethyl and phenyl groups." []	1137875	\N	\N	EFO	3	EFO	material entity	phenobarbital
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8069	"Barbituric acid substituted at C-5 by ethyl and phenyl groups." []	2021003	\N	\N	EFO	4	EFO	experimental factor	phenobarbital
CHEBI:80730	\N	\N	"A N-acyl-amino acid that has formula C18H25NO4." []	CHEBI:80730	"A N-acyl-amino acid that has formula C18H25NO4." []	62829	\N	\N	EFO	0	EFO	Coronatine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Coronatine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:24431	CHEBI:80730	\N	"" []	CHEBI:80730	"A N-acyl-amino acid that has formula C18H25NO4." []	202292	\N	\N	EFO	1	EFO	chemical entity	Coronatine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:80730	"A N-acyl-amino acid that has formula C18H25NO4." []	555196	\N	\N	EFO	2	EFO	material entity	Coronatine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:80730	"A N-acyl-amino acid that has formula C18H25NO4." []	1137876	\N	\N	EFO	3	EFO	experimental factor	Coronatine {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
CHEBI:8093	\N	\N	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	CHEBI:8093	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	62830	\N	\N	EFO	0	EFO	phenylephrine	phenylephrine
CHEBI:23888	CHEBI:8093	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:8093	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	202293	\N	\N	EFO	1	EFO	drug	phenylephrine
CHEBI:59219	CHEBI:8093	\N	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	CHEBI:8093	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	202294	\N	\N	EFO	1	EFO	caerulein	phenylephrine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8093	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	555197	\N	\N	EFO	2	EFO	chemical compound	phenylephrine
CHEBI:37577	CHEBI:59219	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8093	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	555198	\N	\N	EFO	2	EFO	chemical compound	phenylephrine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8093	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	1137877	\N	\N	EFO	3	EFO	chemical entity	phenylephrine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8093	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	2021004	\N	\N	EFO	4	EFO	material entity	phenylephrine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8093	"An analog of paclitaxel with antineoplastic activity.  10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis." []	3175742	\N	\N	EFO	5	EFO	experimental factor	phenylephrine
CHEBI:8107	\N	\N	"" []	CHEBI:8107	"" []	62831	\N	\N	EFO	0	EFO	phenytoin	phenytoin
CHEBI:37577	CHEBI:8107	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8107	"" []	202295	\N	\N	EFO	1	EFO	chemical compound	phenytoin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8107	"" []	555199	\N	\N	EFO	2	EFO	chemical entity	phenytoin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8107	"" []	1137878	\N	\N	EFO	3	EFO	material entity	phenytoin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8107	"" []	2021005	\N	\N	EFO	4	EFO	experimental factor	phenytoin
CHEBI:8212	\N	\N	"An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research.  1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04)" []	CHEBI:8212	"An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research.  1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04)" []	62832	\N	\N	EFO	0	EFO	pimozide	pimozide
CHEBI:23888	CHEBI:8212	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:8212	"An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research.  1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04)" []	202296	\N	\N	EFO	1	EFO	drug	pimozide
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8212	"An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research.  1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04)" []	555200	\N	\N	EFO	2	EFO	chemical compound	pimozide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8212	"An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research.  1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04)" []	1137879	\N	\N	EFO	3	EFO	chemical entity	pimozide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8212	"An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research.  1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04)" []	2021006	\N	\N	EFO	4	EFO	material entity	pimozide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8212	"An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research.  1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04)" []	3175743	\N	\N	EFO	5	EFO	experimental factor	pimozide
CHEBI:8228	\N	\N	"A thiazolidenedione that has formula C19H20N2O3S." []	CHEBI:8228	"A thiazolidenedione that has formula C19H20N2O3S." []	62833	\N	\N	EFO	0	EFO	pioglitazone	pioglitazone
CHEBI:23888	CHEBI:8228	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:8228	"A thiazolidenedione that has formula C19H20N2O3S." []	202297	\N	\N	EFO	1	EFO	drug	pioglitazone
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8228	"A thiazolidenedione that has formula C19H20N2O3S." []	555201	\N	\N	EFO	2	EFO	chemical compound	pioglitazone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8228	"A thiazolidenedione that has formula C19H20N2O3S." []	1137880	\N	\N	EFO	3	EFO	chemical entity	pioglitazone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8228	"A thiazolidenedione that has formula C19H20N2O3S." []	2021007	\N	\N	EFO	4	EFO	material entity	pioglitazone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8228	"A thiazolidenedione that has formula C19H20N2O3S." []	3175744	\N	\N	EFO	5	EFO	experimental factor	pioglitazone
CHEBI:8364	\N	\N	"" []	CHEBI:8364	"" []	62834	\N	\N	EFO	0	EFO	prazosin	prazosin
CHEBI:37577	CHEBI:8364	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8364	"" []	202298	\N	\N	EFO	1	EFO	chemical compound	prazosin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8364	"" []	555202	\N	\N	EFO	2	EFO	chemical entity	prazosin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8364	"" []	1137881	\N	\N	EFO	3	EFO	material entity	prazosin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8364	"" []	2021008	\N	\N	EFO	4	EFO	experimental factor	prazosin
CHEBI:8378	\N	\N	"A glucocorticoid that has formula C21H28O5." []	CHEBI:8378	"A glucocorticoid that has formula C21H28O5." []	62835	\N	\N	EFO	0	EFO	prednisolone	prednisolone
CHEBI:24621	CHEBI:8378	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	CHEBI:8378	"A glucocorticoid that has formula C21H28O5." []	202299	\N	\N	EFO	1	EFO	hormone	prednisolone
CHEBI:35341	CHEBI:8378	\N	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	CHEBI:8378	"A glucocorticoid that has formula C21H28O5." []	202300	\N	\N	EFO	1	EFO	steroid	prednisolone
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8378	"A glucocorticoid that has formula C21H28O5." []	555203	\N	\N	EFO	2	EFO	chemical compound	prednisolone
CHEBI:37577	CHEBI:35341	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8378	"A glucocorticoid that has formula C21H28O5." []	555204	\N	\N	EFO	2	EFO	chemical compound	prednisolone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8378	"A glucocorticoid that has formula C21H28O5." []	1137882	\N	\N	EFO	3	EFO	chemical entity	prednisolone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8378	"A glucocorticoid that has formula C21H28O5." []	2021009	\N	\N	EFO	4	EFO	material entity	prednisolone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8378	"A glucocorticoid that has formula C21H28O5." []	3175745	\N	\N	EFO	5	EFO	experimental factor	prednisolone
CHEBI:8435	\N	\N	"" []	CHEBI:8435	"" []	62836	\N	\N	EFO	0	EFO	prochlorperazine	prochlorperazine
CHEBI:23888	CHEBI:8435	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:8435	"" []	202301	\N	\N	EFO	1	EFO	drug	prochlorperazine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8435	"" []	555205	\N	\N	EFO	2	EFO	chemical compound	prochlorperazine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8435	"" []	1137883	\N	\N	EFO	3	EFO	chemical entity	prochlorperazine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8435	"" []	2021010	\N	\N	EFO	4	EFO	material entity	prochlorperazine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8435	"" []	3175746	\N	\N	EFO	5	EFO	experimental factor	prochlorperazine
CHEBI:8461	\N	\N	"" []	CHEBI:8461	"" []	62837	\N	\N	EFO	0	EFO	promethazine	promethazine
CHEBI:37577	CHEBI:8461	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8461	"" []	202302	\N	\N	EFO	1	EFO	chemical compound	promethazine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8461	"" []	555206	\N	\N	EFO	2	EFO	chemical entity	promethazine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8461	"" []	1137884	\N	\N	EFO	3	EFO	material entity	promethazine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8461	"" []	2021011	\N	\N	EFO	4	EFO	experimental factor	promethazine
CHEBI:8502	\N	\N	"" []	CHEBI:8502	"" []	62838	\N	\N	EFO	0	EFO	6-propyl-2-thiouracil	6-propyl-2-thiouracil
CHEBI:23888	CHEBI:8502	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:8502	"" []	202303	\N	\N	EFO	1	EFO	drug	6-propyl-2-thiouracil
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8502	"" []	555207	\N	\N	EFO	2	EFO	chemical compound	6-propyl-2-thiouracil
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8502	"" []	1137885	\N	\N	EFO	3	EFO	chemical entity	6-propyl-2-thiouracil
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8502	"" []	2021012	\N	\N	EFO	4	EFO	material entity	6-propyl-2-thiouracil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8502	"" []	3175747	\N	\N	EFO	5	EFO	experimental factor	6-propyl-2-thiouracil
CHEBI:8707	\N	\N	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	CHEBI:8707	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	62839	\N	\N	EFO	0	EFO	quetiapine	quetiapine
CHEBI:64207	CHEBI:8707	\N	"" []	CHEBI:8707	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	202304	\N	\N	EFO	1	EFO	spiramide	quetiapine
CHEBI:23888	CHEBI:64207	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:8707	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	555208	\N	\N	EFO	2	EFO	drug	quetiapine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8707	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	1137886	\N	\N	EFO	3	EFO	chemical compound	quetiapine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8707	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	2021013	\N	\N	EFO	4	EFO	chemical entity	quetiapine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8707	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	3175748	\N	\N	EFO	5	EFO	material entity	quetiapine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8707	"Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia." []	4386556	\N	\N	EFO	6	EFO	experimental factor	quetiapine
CHEBI:8772	\N	\N	"A benzothiophene that has formula C28H27NO4S." []	CHEBI:8772	"A benzothiophene that has formula C28H27NO4S." []	62840	\N	\N	EFO	0	EFO	raloxifene	raloxifene
CHEBI:23888	CHEBI:8772	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:8772	"A benzothiophene that has formula C28H27NO4S." []	202305	\N	\N	EFO	1	EFO	drug	raloxifene
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8772	"A benzothiophene that has formula C28H27NO4S." []	555209	\N	\N	EFO	2	EFO	chemical compound	raloxifene
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8772	"A benzothiophene that has formula C28H27NO4S." []	1137887	\N	\N	EFO	3	EFO	chemical entity	raloxifene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8772	"A benzothiophene that has formula C28H27NO4S." []	2021014	\N	\N	EFO	4	EFO	material entity	raloxifene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8772	"A benzothiophene that has formula C28H27NO4S." []	3175749	\N	\N	EFO	5	EFO	experimental factor	raloxifene
CHEBI:8776	\N	\N	"" []	CHEBI:8776	"" []	62841	\N	\N	EFO	0	EFO	ranitidine	ranitidine
CHEBI:37577	CHEBI:8776	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8776	"" []	202306	\N	\N	EFO	1	EFO	chemical compound	ranitidine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8776	"" []	555210	\N	\N	EFO	2	EFO	chemical entity	ranitidine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8776	"" []	1137888	\N	\N	EFO	3	EFO	material entity	ranitidine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8776	"" []	2021015	\N	\N	EFO	4	EFO	experimental factor	ranitidine
CHEBI:8871	\N	\N	"" []	CHEBI:8871	"" []	62842	\N	\N	EFO	0	EFO	risperidone	risperidone
CHEBI:24532	CHEBI:8871	\N	"" []	CHEBI:8871	"" []	202307	\N	\N	EFO	1	EFO	organic heterocyclic compound	risperidone
CHEBI:64207	CHEBI:8871	\N	"" []	CHEBI:8871	"" []	202308	\N	\N	EFO	1	EFO	spiramide	risperidone
CHEBI:37577	CHEBI:24532	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8871	"" []	555211	\N	\N	EFO	2	EFO	chemical compound	risperidone
CHEBI:23888	CHEBI:64207	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:8871	"" []	555212	\N	\N	EFO	2	EFO	drug	risperidone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8871	"" []	2021017	\N	\N	EFO	4	EFO	chemical entity	risperidone
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8871	"" []	1137890	\N	\N	EFO	3	EFO	chemical compound	risperidone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8871	"" []	2999167	\N	\N	EFO	5	EFO	material entity	risperidone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8871	"" []	4132408	\N	\N	EFO	6	EFO	experimental factor	risperidone
CHEBI:8887	\N	\N	"A sulfone that has formula C17H14O4S." []	CHEBI:8887	"A sulfone that has formula C17H14O4S." []	62843	\N	\N	EFO	0	EFO	rofecoxib	rofecoxib
CHEBI:23888	CHEBI:8887	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:8887	"A sulfone that has formula C17H14O4S." []	202309	\N	\N	EFO	1	EFO	drug	rofecoxib
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:8887	"A sulfone that has formula C17H14O4S." []	555213	\N	\N	EFO	2	EFO	chemical compound	rofecoxib
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:8887	"A sulfone that has formula C17H14O4S." []	1137891	\N	\N	EFO	3	EFO	chemical entity	rofecoxib
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:8887	"A sulfone that has formula C17H14O4S." []	2021018	\N	\N	EFO	4	EFO	material entity	rofecoxib
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:8887	"A sulfone that has formula C17H14O4S." []	3175751	\N	\N	EFO	5	EFO	experimental factor	rofecoxib
CHEBI:9011	\N	\N	"" []	CHEBI:9011	"" []	62844	\N	\N	EFO	0	EFO	salmeterol	salmeterol
CHEBI:23888	CHEBI:9011	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:9011	"" []	202310	\N	\N	EFO	1	EFO	drug	salmeterol
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9011	"" []	555214	\N	\N	EFO	2	EFO	chemical compound	salmeterol
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9011	"" []	1137892	\N	\N	EFO	3	EFO	chemical entity	salmeterol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9011	"" []	2021019	\N	\N	EFO	4	EFO	material entity	salmeterol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9011	"" []	3175752	\N	\N	EFO	5	EFO	experimental factor	salmeterol
CHEBI:9124	\N	\N	"" []	CHEBI:9124	"" []	62845	\N	\N	EFO	0	EFO	sertraline hydrochloride	sertraline hydrochloride
EFO:0004415	CHEBI:9124	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	CHEBI:9124	"" []	202311	\N	\N	EFO	1	EFO	ionic salt	sertraline hydrochloride
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9124	"" []	555215	\N	\N	EFO	2	EFO	chemical compound	sertraline hydrochloride
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9124	"" []	1137893	\N	\N	EFO	3	EFO	chemical entity	sertraline hydrochloride
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9124	"" []	2021020	\N	\N	EFO	4	EFO	material entity	sertraline hydrochloride
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9124	"" []	3175753	\N	\N	EFO	5	EFO	experimental factor	sertraline hydrochloride
CHEBI:9130	\N	\N	"An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups." []	CHEBI:9130	"An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups." []	62846	\N	\N	EFO	0	EFO	sevoflurane	sevoflurane
CHEBI:23888	CHEBI:9130	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:9130	"An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups." []	202312	\N	\N	EFO	1	EFO	drug	sevoflurane
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9130	"An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups." []	555216	\N	\N	EFO	2	EFO	chemical compound	sevoflurane
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9130	"An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups." []	1137894	\N	\N	EFO	3	EFO	chemical entity	sevoflurane
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9130	"An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups." []	2021021	\N	\N	EFO	4	EFO	material entity	sevoflurane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9130	"An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups." []	3175754	\N	\N	EFO	5	EFO	experimental factor	sevoflurane
CHEBI:9150	\N	\N	"Simvastatin (INN) ( /?s?mv?stt?n/) is a hypolipidemic drug used to control elevated cholesterol, or hypercholesterolemia. It is a member of the statin class of pharmaceuticals." []	CHEBI:9150	"Simvastatin (INN) ( /?s?mv?stt?n/) is a hypolipidemic drug used to control elevated cholesterol, or hypercholesterolemia. It is a member of the statin class of pharmaceuticals." []	62847	\N	\N	EFO	0	EFO	simvastatin	simvastatin
CHEBI:23888	CHEBI:9150	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:9150	"Simvastatin (INN) ( /?s?mv?stt?n/) is a hypolipidemic drug used to control elevated cholesterol, or hypercholesterolemia. It is a member of the statin class of pharmaceuticals." []	202313	\N	\N	EFO	1	EFO	drug	simvastatin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9150	"Simvastatin (INN) ( /?s?mv?stt?n/) is a hypolipidemic drug used to control elevated cholesterol, or hypercholesterolemia. It is a member of the statin class of pharmaceuticals." []	555217	\N	\N	EFO	2	EFO	chemical compound	simvastatin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9150	"Simvastatin (INN) ( /?s?mv?stt?n/) is a hypolipidemic drug used to control elevated cholesterol, or hypercholesterolemia. It is a member of the statin class of pharmaceuticals." []	1137895	\N	\N	EFO	3	EFO	chemical entity	simvastatin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9150	"Simvastatin (INN) ( /?s?mv?stt?n/) is a hypolipidemic drug used to control elevated cholesterol, or hypercholesterolemia. It is a member of the statin class of pharmaceuticals." []	2021022	\N	\N	EFO	4	EFO	material entity	simvastatin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9150	"Simvastatin (INN) ( /?s?mv?stt?n/) is a hypolipidemic drug used to control elevated cholesterol, or hypercholesterolemia. It is a member of the statin class of pharmaceuticals." []	3175755	\N	\N	EFO	5	EFO	experimental factor	simvastatin
CHEBI:9168	\N	\N	"" []	CHEBI:9168	"" []	62848	\N	\N	EFO	0	EFO	rapamycin	rapamycin
CHEBI:37577	CHEBI:9168	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9168	"" []	202314	\N	\N	EFO	1	EFO	chemical compound	rapamycin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9168	"" []	555218	\N	\N	EFO	2	EFO	chemical entity	rapamycin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9168	"" []	1137896	\N	\N	EFO	3	EFO	material entity	rapamycin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9168	"" []	2021023	\N	\N	EFO	4	EFO	experimental factor	rapamycin
CHEBI:9288	\N	\N	"An antibiotic that is produced by Streptomyces achromogenes. It is used as an antineoplastic agent and to induce diabetes in experimental animals." []	CHEBI:9288	"An antibiotic that is produced by Streptomyces achromogenes. It is used as an antineoplastic agent and to induce diabetes in experimental animals." []	62849	\N	\N	EFO	0	EFO	streptozotocin	streptozotocin
CHEBI:23888	CHEBI:9288	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:9288	"An antibiotic that is produced by Streptomyces achromogenes. It is used as an antineoplastic agent and to induce diabetes in experimental animals." []	202315	\N	\N	EFO	1	EFO	drug	streptozotocin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9288	"An antibiotic that is produced by Streptomyces achromogenes. It is used as an antineoplastic agent and to induce diabetes in experimental animals." []	555219	\N	\N	EFO	2	EFO	chemical compound	streptozotocin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9288	"An antibiotic that is produced by Streptomyces achromogenes. It is used as an antineoplastic agent and to induce diabetes in experimental animals." []	1137897	\N	\N	EFO	3	EFO	chemical entity	streptozotocin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9288	"An antibiotic that is produced by Streptomyces achromogenes. It is used as an antineoplastic agent and to induce diabetes in experimental animals." []	2021024	\N	\N	EFO	4	EFO	material entity	streptozotocin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9288	"An antibiotic that is produced by Streptomyces achromogenes. It is used as an antineoplastic agent and to induce diabetes in experimental animals." []	3175756	\N	\N	EFO	5	EFO	experimental factor	streptozotocin
CHEBI:9334	\N	\N	"" []	CHEBI:9334	"" []	62850	\N	\N	EFO	0	EFO	sulfasalazine	sulfasalazine
CHEBI:37577	CHEBI:9334	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9334	"" []	202316	\N	\N	EFO	1	EFO	chemical compound	sulfasalazine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9334	"" []	555220	\N	\N	EFO	2	EFO	chemical entity	sulfasalazine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9334	"" []	1137898	\N	\N	EFO	3	EFO	material entity	sulfasalazine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9334	"" []	2021025	\N	\N	EFO	4	EFO	experimental factor	sulfasalazine
CHEBI:9352	\N	\N	"A sulfoxide that has formula C20H17FO3S." []	CHEBI:9352	"A sulfoxide that has formula C20H17FO3S." []	62851	\N	\N	EFO	0	EFO	sulindac	sulindac
CHEBI:37577	CHEBI:9352	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9352	"A sulfoxide that has formula C20H17FO3S." []	202317	\N	\N	EFO	1	EFO	chemical compound	sulindac
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9352	"A sulfoxide that has formula C20H17FO3S." []	555221	\N	\N	EFO	2	EFO	chemical entity	sulindac
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9352	"A sulfoxide that has formula C20H17FO3S." []	1137899	\N	\N	EFO	3	EFO	material entity	sulindac
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9352	"A sulfoxide that has formula C20H17FO3S." []	2021026	\N	\N	EFO	4	EFO	experimental factor	sulindac
CHEBI:9467	\N	\N	"" []	CHEBI:9467	"" []	62852	\N	\N	EFO	0	EFO	tetrabenazine	tetrabenazine
CHEBI:23888	CHEBI:9467	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:9467	"" []	202318	\N	\N	EFO	1	EFO	drug	tetrabenazine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9467	"" []	555222	\N	\N	EFO	2	EFO	chemical compound	tetrabenazine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9467	"" []	1137900	\N	\N	EFO	3	EFO	chemical entity	tetrabenazine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9467	"" []	2021027	\N	\N	EFO	4	EFO	material entity	tetrabenazine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9467	"" []	3175757	\N	\N	EFO	5	EFO	experimental factor	tetrabenazine
CHEBI:9513	\N	\N	"" []	CHEBI:9513	"" []	62853	\N	\N	EFO	0	EFO	thalidomide	thalidomide
CHEBI:37577	CHEBI:9513	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9513	"" []	202319	\N	\N	EFO	1	EFO	chemical compound	thalidomide
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9513	"" []	555223	\N	\N	EFO	2	EFO	chemical entity	thalidomide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9513	"" []	1137901	\N	\N	EFO	3	EFO	material entity	thalidomide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9513	"" []	2021028	\N	\N	EFO	4	EFO	experimental factor	thalidomide
CHEBI:9516	\N	\N	"An involuntary muscular contraction involving a muscle of the abdomen or of a hollow organ within the abdomen." []	CHEBI:9516	"An involuntary muscular contraction involving a muscle of the abdomen or of a hollow organ within the abdomen." []	62854	\N	\N	EFO	0	EFO	thapsigargin	thapsigargin
CHEBI:37577	CHEBI:9516	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9516	"An involuntary muscular contraction involving a muscle of the abdomen or of a hollow organ within the abdomen." []	202320	\N	\N	EFO	1	EFO	chemical compound	thapsigargin
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9516	"An involuntary muscular contraction involving a muscle of the abdomen or of a hollow organ within the abdomen." []	555224	\N	\N	EFO	2	EFO	chemical entity	thapsigargin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9516	"An involuntary muscular contraction involving a muscle of the abdomen or of a hollow organ within the abdomen." []	1137902	\N	\N	EFO	3	EFO	material entity	thapsigargin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9516	"An involuntary muscular contraction involving a muscle of the abdomen or of a hollow organ within the abdomen." []	2021029	\N	\N	EFO	4	EFO	experimental factor	thapsigargin
CHEBI:9566	\N	\N	"A phenothiazine that has formula C21H26N2S2." []	CHEBI:9566	"A phenothiazine that has formula C21H26N2S2." []	62855	\N	\N	EFO	0	EFO	thioridazine	thioridazine
CHEBI:64207	CHEBI:9566	\N	"" []	CHEBI:9566	"A phenothiazine that has formula C21H26N2S2." []	202321	\N	\N	EFO	1	EFO	spiramide	thioridazine
CHEBI:23888	CHEBI:64207	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:9566	"A phenothiazine that has formula C21H26N2S2." []	555225	\N	\N	EFO	2	EFO	drug	thioridazine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9566	"A phenothiazine that has formula C21H26N2S2." []	1137903	\N	\N	EFO	3	EFO	chemical compound	thioridazine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9566	"A phenothiazine that has formula C21H26N2S2." []	2021030	\N	\N	EFO	4	EFO	chemical entity	thioridazine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9566	"A phenothiazine that has formula C21H26N2S2." []	3175758	\N	\N	EFO	5	EFO	material entity	thioridazine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9566	"A phenothiazine that has formula C21H26N2S2." []	4386557	\N	\N	EFO	6	EFO	experimental factor	thioridazine
CHEBI:9588	\N	\N	"" []	CHEBI:9588	"" []	62856	\N	\N	EFO	0	EFO	ticlopidine	ticlopidine
CHEBI:23888	CHEBI:9588	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:9588	"" []	202322	\N	\N	EFO	1	EFO	drug	ticlopidine
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9588	"" []	555226	\N	\N	EFO	2	EFO	chemical compound	ticlopidine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9588	"" []	1137904	\N	\N	EFO	3	EFO	chemical entity	ticlopidine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9588	"" []	2021031	\N	\N	EFO	4	EFO	material entity	ticlopidine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9588	"" []	3175759	\N	\N	EFO	5	EFO	experimental factor	ticlopidine
CHEBI:9629	\N	\N	"" []	CHEBI:9629	"" []	62857	\N	\N	EFO	0	EFO	tomatidine	tomatidine
CHEBI:35341	CHEBI:9629	\N	"Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids." []	CHEBI:9629	"" []	202323	\N	\N	EFO	1	EFO	steroid	tomatidine
CHEBI:37577	CHEBI:35341	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9629	"" []	555227	\N	\N	EFO	2	EFO	chemical compound	tomatidine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9629	"" []	1137905	\N	\N	EFO	3	EFO	chemical entity	tomatidine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9629	"" []	2021032	\N	\N	EFO	4	EFO	material entity	tomatidine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9629	"" []	3175760	\N	\N	EFO	5	EFO	experimental factor	tomatidine
CHEBI:9630	\N	\N	"" []	CHEBI:9630	"" []	62858	\N	\N	EFO	0	EFO	tomatine	tomatine
CHEBI:37577	CHEBI:9630	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9630	"" []	202324	\N	\N	EFO	1	EFO	chemical compound	tomatine
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9630	"" []	555228	\N	\N	EFO	2	EFO	chemical entity	tomatine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9630	"" []	1137906	\N	\N	EFO	3	EFO	material entity	tomatine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9630	"" []	2021033	\N	\N	EFO	4	EFO	experimental factor	tomatine
CHEBI:9674	\N	\N	"" []	CHEBI:9674	"" []	62859	\N	\N	EFO	0	EFO	triazolam	triazolam
CHEBI:37577	CHEBI:9674	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9674	"" []	202325	\N	\N	EFO	1	EFO	chemical compound	triazolam
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9674	"" []	555229	\N	\N	EFO	2	EFO	chemical entity	triazolam
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9674	"" []	1137907	\N	\N	EFO	3	EFO	material entity	triazolam
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9674	"" []	2021034	\N	\N	EFO	4	EFO	experimental factor	triazolam
CHEBI:9678	\N	\N	"" []	CHEBI:9678	"" []	62860	\N	\N	EFO	0	EFO	tribenuron methyl	tribenuron methyl
CHEBI:37577	CHEBI:9678	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9678	"" []	202326	\N	\N	EFO	1	EFO	chemical compound	tribenuron methyl
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9678	"" []	555230	\N	\N	EFO	2	EFO	chemical entity	tribenuron methyl
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9678	"" []	1137908	\N	\N	EFO	3	EFO	material entity	tribenuron methyl
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9678	"" []	2021035	\N	\N	EFO	4	EFO	experimental factor	tribenuron methyl
CHEBI:9753	\N	\N	"A chromane that has formula C24H27NO5S." []	CHEBI:9753	"A chromane that has formula C24H27NO5S." []	62861	\N	\N	EFO	0	EFO	troglitazone	troglitazone
CHEBI:37577	CHEBI:9753	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9753	"A chromane that has formula C24H27NO5S." []	202327	\N	\N	EFO	1	EFO	chemical compound	troglitazone
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9753	"A chromane that has formula C24H27NO5S." []	555231	\N	\N	EFO	2	EFO	chemical entity	troglitazone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9753	"A chromane that has formula C24H27NO5S." []	1137909	\N	\N	EFO	3	EFO	material entity	troglitazone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9753	"A chromane that has formula C24H27NO5S." []	2021036	\N	\N	EFO	4	EFO	experimental factor	troglitazone
CHEBI:9925	\N	\N	"The sodium salt of valproic acid." []	CHEBI:9925	"The sodium salt of valproic acid." []	62862	\N	\N	EFO	0	EFO	sodium valproate	sodium valproate
CHEBI:23888	CHEBI:9925	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:9925	"The sodium salt of valproic acid." []	202328	\N	\N	EFO	1	EFO	drug	sodium valproate
CHEBI:59219	CHEBI:9925	\N	"A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction." []	CHEBI:9925	"The sodium salt of valproic acid." []	202329	\N	\N	EFO	1	EFO	caerulein	sodium valproate
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9925	"The sodium salt of valproic acid." []	555232	\N	\N	EFO	2	EFO	chemical compound	sodium valproate
CHEBI:37577	CHEBI:59219	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9925	"The sodium salt of valproic acid." []	555233	\N	\N	EFO	2	EFO	chemical compound	sodium valproate
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9925	"The sodium salt of valproic acid." []	1137910	\N	\N	EFO	3	EFO	chemical entity	sodium valproate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9925	"The sodium salt of valproic acid." []	2021037	\N	\N	EFO	4	EFO	material entity	sodium valproate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9925	"The sodium salt of valproic acid." []	3175761	\N	\N	EFO	5	EFO	experimental factor	sodium valproate
CHEBI:9948	\N	\N	"\\"An L-type calcium channel blocker of the phenylalkylamine class.\\" []" []	CHEBI:9948	"\\"An L-type calcium channel blocker of the phenylalkylamine class.\\" []" []	62863	\N	\N	EFO	0	EFO	verapamil	verapamil
CHEBI:23888	CHEBI:9948	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	CHEBI:9948	"\\"An L-type calcium channel blocker of the phenylalkylamine class.\\" []" []	202330	\N	\N	EFO	1	EFO	drug	verapamil
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	CHEBI:9948	"\\"An L-type calcium channel blocker of the phenylalkylamine class.\\" []" []	555234	\N	\N	EFO	2	EFO	chemical compound	verapamil
CHEBI:24431	CHEBI:37577	\N	"" []	CHEBI:9948	"\\"An L-type calcium channel blocker of the phenylalkylamine class.\\" []" []	1137911	\N	\N	EFO	3	EFO	chemical entity	verapamil
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CHEBI:9948	"\\"An L-type calcium channel blocker of the phenylalkylamine class.\\" []" []	2021038	\N	\N	EFO	4	EFO	material entity	verapamil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CHEBI:9948	"\\"An L-type calcium channel blocker of the phenylalkylamine class.\\" []" []	3175762	\N	\N	EFO	5	EFO	experimental factor	verapamil
CL:0000002	\N	\N	"A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite growth/propagation in vitro as part of a immortal cell line." []	CL:0000002	"A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite growth/propagation in vitro as part of a immortal cell line." []	62865	\N	\N	EFO	0	EFO	immortal cell line cell	immortal cell line cell
EFO:0000324	CL:0000002	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000002	"A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite growth/propagation in vitro as part of a immortal cell line." []	202331	\N	\N	EFO	1	EFO	cell type	immortal cell line cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000002	"A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite growth/propagation in vitro as part of a immortal cell line." []	555235	\N	\N	EFO	2	EFO	material entity	immortal cell line cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000002	"A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite growth/propagation in vitro as part of a immortal cell line." []	1137912	\N	\N	EFO	3	EFO	experimental factor	immortal cell line cell
CL:0000007	\N	\N	"A cell found in the embryo before the formation of all the gem layers is complete." []	CL:0000007	"A cell found in the embryo before the formation of all the gem layers is complete." []	62866	\N	\N	EFO	0	EFO	early embryonic cell	early embryonic cell
CL:0002321	CL:0000007	\N	"A cell of the embryo." []	CL:0000007	"A cell found in the embryo before the formation of all the gem layers is complete." []	202332	\N	\N	EFO	1	EFO	embryonic cell	early embryonic cell
CL:0002321	CL:0000007	\N	"A cell of the embryo." []	CL:0000007	"A cell found in the embryo before the formation of all the gem layers is complete." []	202333	\N	\N	EFO	1	EFO	embryonic cell	early embryonic cell
EFO:0000324	CL:0002321	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000007	"A cell found in the embryo before the formation of all the gem layers is complete." []	555236	\N	\N	EFO	2	EFO	cell type	early embryonic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000007	"A cell found in the embryo before the formation of all the gem layers is complete." []	1137913	\N	\N	EFO	3	EFO	material entity	early embryonic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000007	"A cell found in the embryo before the formation of all the gem layers is complete." []	2021039	\N	\N	EFO	4	EFO	experimental factor	early embryonic cell
CL:0000015	\N	\N	"" []	CL:0000015	"" []	62867	\N	\N	EFO	0	EFO	male germ cell	male germ cell
CL:0000586	CL:0000015	\N	"The reproductive cell in multicellular organisms." []	CL:0000015	"" []	202334	\N	\N	EFO	1	EFO	germ cell	male germ cell
CL:0000586	CL:0000015	\N	"The reproductive cell in multicellular organisms." []	CL:0000015	"" []	202335	\N	\N	EFO	1	EFO	germ cell	male germ cell
EFO:0002955	CL:0000586	\N	"" []	CL:0000015	"" []	555237	\N	\N	EFO	2	EFO	reproductive system cell	male germ cell
EFO:0000324	EFO:0002955	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000015	"" []	1137914	\N	\N	EFO	3	EFO	cell type	male germ cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000015	"" []	2021040	\N	\N	EFO	4	EFO	material entity	male germ cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000015	"" []	3175763	\N	\N	EFO	5	EFO	experimental factor	male germ cell
CL:0000019	\N	\N	"Definitive germ cell of the male sex." []	CL:0000019	"Definitive germ cell of the male sex." []	62868	\N	\N	EFO	0	EFO	sperm	sperm
CL:0000064	\N	\N	"A cell that has a filiform extrusion of the cell surface." [GOC:tfm]	CL:0000019	"Definitive germ cell of the male sex." []	194027	\N	\N	EFO	0	EFO	ciliated cell	sperm
CL:0000219	\N	\N	"A cell that moves by its own activities." [FB:ma]	CL:0000019	"Definitive germ cell of the male sex." []	194028	\N	\N	EFO	0	EFO	motile cell	sperm
CL:0000408	\N	\N	"" []	CL:0000019	"Definitive germ cell of the male sex." []	194029	\N	\N	EFO	0	EFO	male gamete	sperm
EFO:0000787	CL:0000019	\N	"" []	CL:0000019	"Definitive germ cell of the male sex." []	202336	\N	\N	EFO	1	EFO	animal component	sperm
EFO:0000786	EFO:0000787	\N	"" []	CL:0000019	"Definitive germ cell of the male sex." []	555238	\N	\N	EFO	2	EFO	anatomy basic component	sperm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CL:0000019	"Definitive germ cell of the male sex." []	1137915	\N	\N	EFO	3	EFO	organism part	sperm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000019	"Definitive germ cell of the male sex." []	2021041	\N	\N	EFO	4	EFO	material entity	sperm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000019	"Definitive germ cell of the male sex." []	3175764	\N	\N	EFO	5	EFO	experimental factor	sperm
CL:0000023	\N	\N	"A female germ cell that has entered meiosis." []	CL:0000023	"A female germ cell that has entered meiosis." []	62869	\N	\N	EFO	0	EFO	oocyte	oocyte
CL:0000021	\N	\N	"Female germ cell is a germ cell that supports female gamete production." [GOC:tfm, PMID:11023867, PMID:20454446]	CL:0000023	"A female germ cell that has entered meiosis." []	194030	\N	\N	EFO	0	EFO	female germ cell	oocyte
CL:0000586	CL:0000023	\N	"The reproductive cell in multicellular organisms." []	CL:0000023	"A female germ cell that has entered meiosis." []	202337	\N	\N	EFO	1	EFO	germ cell	oocyte
EFO:0002955	CL:0000586	\N	"" []	CL:0000023	"A female germ cell that has entered meiosis." []	555239	\N	\N	EFO	2	EFO	reproductive system cell	oocyte
EFO:0000324	EFO:0002955	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000023	"A female germ cell that has entered meiosis." []	1137916	\N	\N	EFO	3	EFO	cell type	oocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000023	"A female germ cell that has entered meiosis." []	2021042	\N	\N	EFO	4	EFO	material entity	oocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000023	"A female germ cell that has entered meiosis." []	3175765	\N	\N	EFO	5	EFO	experimental factor	oocyte
CL:0000025	\N	\N	"A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." []	CL:0000025	"A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." []	62870	\N	\N	EFO	0	EFO	plant egg	plant egg
CL:0000675	\N	\N	"A mature sexual reproductive cell of the female germline." [GOC:tfm]	CL:0000025	"A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." []	194031	\N	\N	EFO	0	EFO	female gamete	plant egg
EFO:0000988	CL:0000025	\N	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	CL:0000025	"A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." []	202338	\N	\N	EFO	1	EFO	gametophyte	plant egg
EFO:0000789	EFO:0000988	\N	"" []	CL:0000025	"A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." []	555240	\N	\N	EFO	2	EFO	plant component	plant egg
PO:0025131	EFO:0000988	\N	"An anatomical entity that is or was part of a plant." []	CL:0000025	"A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." []	555241	\N	\N	EFO	2	EFO	plant anatomical entity	plant egg
EFO:0000786	EFO:0000789	\N	"" []	CL:0000025	"A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." []	1137917	\N	\N	EFO	3	EFO	anatomy basic component	plant egg
EFO:0000786	PO:0025131	\N	"" []	CL:0000025	"A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." []	1137918	\N	\N	EFO	3	EFO	anatomy basic component	plant egg
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CL:0000025	"A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." []	2021043	\N	\N	EFO	4	EFO	organism part	plant egg
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000025	"A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." []	3175766	\N	\N	EFO	5	EFO	material entity	plant egg
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000025	"A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." []	4386558	\N	\N	EFO	6	EFO	experimental factor	plant egg
CL:0000034	\N	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0000034	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	62871	\N	\N	EFO	0	EFO	stem cell	stem cell
CL:0011115	\N	\N	"A cell that, by division or terminal differentiation, can give rise to other cell types." [GOC:dos]	CL:0000034	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	194032	\N	\N	EFO	0	EFO	precursor cell	stem cell
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000034	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	202339	\N	\N	EFO	1	EFO	cell type	stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000034	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	555242	\N	\N	EFO	2	EFO	material entity	stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000034	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	1137919	\N	\N	EFO	3	EFO	experimental factor	stem cell
CL:0000037	\N	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0000037	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	62872	\N	\N	EFO	0	EFO	hematopoietic stem cell	hematopoietic stem cell
CL:0000723	\N	\N	"A stem cell that can give rise to cell types of the body other than those of the germ-line." []	CL:0000037	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	194033	\N	\N	EFO	0	EFO	somatic stem cell	hematopoietic stem cell
CL:0008001	\N	\N	"Any hematopoietic cell that is a precursor of some other hematopoietic cell type." [GOC:dos]	CL:0000037	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	194034	\N	\N	EFO	0	EFO	hematopoietic precursor cell	hematopoietic stem cell
CL:0000988	CL:0000037	\N	"A cell of a hematopoietic lineage." []	CL:0000037	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	202340	\N	\N	EFO	1	EFO	hematopoietic cell	hematopoietic stem cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000037	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	555243	\N	\N	EFO	2	EFO	cell type	hematopoietic stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000037	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	1137920	\N	\N	EFO	3	EFO	material entity	hematopoietic stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000037	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	2021044	\N	\N	EFO	4	EFO	experimental factor	hematopoietic stem cell
CL:0000038	\N	\N	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	62873	\N	\N	EFO	0	EFO	erythroid progenitor cell	erythroid progenitor cell
CL:0000764	CL:0000038	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	202341	\N	\N	EFO	1	EFO	erythroid lineage cell	erythroid progenitor cell
CL:0000764	CL:0000038	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	202342	\N	\N	EFO	1	EFO	erythroid lineage cell	erythroid progenitor cell
CL:0000839	CL:0000038	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	202343	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	erythroid progenitor cell
CL:0000839	CL:0000038	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	202344	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	erythroid progenitor cell
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	555244	\N	\N	EFO	2	EFO	myeloid cell	erythroid progenitor cell
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	555245	\N	\N	EFO	2	EFO	myeloid cell	erythroid progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	555246	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	erythroid progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	555247	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	erythroid progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	1137921	\N	\N	EFO	3	EFO	hematopoietic cell	erythroid progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	1137922	\N	\N	EFO	3	EFO	hematopoietic cell	erythroid progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	1137923	\N	\N	EFO	3	EFO	hematopoietic cell	erythroid progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	2021045	\N	\N	EFO	4	EFO	cell type	erythroid progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	2021046	\N	\N	EFO	4	EFO	somatic cell	erythroid progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	3175767	\N	\N	EFO	5	EFO	material entity	erythroid progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000038	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	4386559	\N	\N	EFO	6	EFO	experimental factor	erythroid progenitor cell
CL:0000040	\N	\N	"" []	CL:0000040	"" []	62874	\N	\N	EFO	0	EFO	monoblast	monoblast
CL:0000763	CL:0000040	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000040	"" []	202345	\N	\N	EFO	1	EFO	myeloid cell	monoblast
CL:0002194	CL:0000040	\N	"" []	CL:0000040	"" []	202346	\N	\N	EFO	1	EFO	monopoietic cell	monoblast
CL:0002194	CL:0000040	\N	"" []	CL:0000040	"" []	202347	\N	\N	EFO	1	EFO	monopoietic cell	monoblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000040	"" []	555248	\N	\N	EFO	2	EFO	hematopoietic cell	monoblast
CL:0000839	CL:0002194	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000040	"" []	555249	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	monoblast
CL:0000839	CL:0002194	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000040	"" []	555250	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	monoblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000040	"" []	1137924	\N	\N	EFO	3	EFO	somatic cell	monoblast
CL:0002031	CL:0000839	\N	"" []	CL:0000040	"" []	1137925	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	monoblast
CL:0002031	CL:0000839	\N	"" []	CL:0000040	"" []	1137926	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	monoblast
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000040	"" []	2021047	\N	\N	EFO	4	EFO	hematopoietic cell	monoblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000040	"" []	3175768	\N	\N	EFO	5	EFO	cell type	monoblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000040	"" []	4386560	\N	\N	EFO	6	EFO	material entity	monoblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000040	"" []	5407763	\N	\N	EFO	7	EFO	experimental factor	monoblast
CL:0000041	\N	\N	"" []	CL:0000041	"" []	62875	\N	\N	EFO	0	EFO	mature eosinophil	mature eosinophil
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0000041	"" []	194035	\N	\N	EFO	0	EFO	nucleate cell	mature eosinophil
CL:0000771	CL:0000041	\N	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	CL:0000041	"" []	202348	\N	\N	EFO	1	EFO	eosinophil	mature eosinophil
CL:0000771	CL:0000041	\N	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	CL:0000041	"" []	202349	\N	\N	EFO	1	EFO	eosinophil	mature eosinophil
CL:0000094	CL:0000771	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000041	"" []	555251	\N	\N	EFO	2	EFO	granulocyte	mature eosinophil
CL:0000094	CL:0000771	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000041	"" []	555252	\N	\N	EFO	2	EFO	granulocyte	mature eosinophil
CL:0000766	CL:0000094	\N	"" []	CL:0000041	"" []	1137927	\N	\N	EFO	3	EFO	myeloid leukocyte	mature eosinophil
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000041	"" []	1137928	\N	\N	EFO	3	EFO	blood cell	mature eosinophil
CL:0000766	CL:0000094	\N	"" []	CL:0000041	"" []	1137929	\N	\N	EFO	3	EFO	myeloid leukocyte	mature eosinophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000041	"" []	2021048	\N	\N	EFO	4	EFO	leukocyte	mature eosinophil
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000041	"" []	2021049	\N	\N	EFO	4	EFO	hematopoietic cell	mature eosinophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000041	"" []	2021050	\N	\N	EFO	4	EFO	leukocyte	mature eosinophil
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000041	"" []	2021051	\N	\N	EFO	4	EFO	myeloid cell	mature eosinophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000041	"" []	3175769	\N	\N	EFO	5	EFO	hematopoietic cell	mature eosinophil
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000041	"" []	4386562	\N	\N	EFO	6	EFO	somatic cell	mature eosinophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000041	"" []	3175771	\N	\N	EFO	5	EFO	hematopoietic cell	mature eosinophil
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000041	"" []	3175772	\N	\N	EFO	5	EFO	hematopoietic cell	mature eosinophil
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000041	"" []	4386561	\N	\N	EFO	6	EFO	cell type	mature eosinophil
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000041	"" []	5407764	\N	\N	EFO	7	EFO	material entity	mature eosinophil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000041	"" []	6146819	\N	\N	EFO	8	EFO	experimental factor	mature eosinophil
CL:0000042	\N	\N	"" []	CL:0000042	"" []	62876	\N	\N	EFO	0	EFO	neutrophilic myeloblast	neutrophilic myeloblast
CL:0000834	CL:0000042	\N	"" []	CL:0000042	"" []	202350	\N	\N	EFO	1	EFO	neutrophil progenitor cell	neutrophilic myeloblast
CL:0000835	CL:0000042	\N	"" []	CL:0000042	"" []	202351	\N	\N	EFO	1	EFO	myeloblast	neutrophilic myeloblast
CL:0000835	CL:0000042	\N	"" []	CL:0000042	"" []	202352	\N	\N	EFO	1	EFO	myeloblast	neutrophilic myeloblast
CL:0000763	CL:0000834	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000042	"" []	555253	\N	\N	EFO	2	EFO	myeloid cell	neutrophilic myeloblast
CL:0002191	CL:0000834	\N	"" []	CL:0000042	"" []	555254	\N	\N	EFO	2	EFO	granulocytopoietic cell	neutrophilic myeloblast
CL:0002191	CL:0000835	\N	"" []	CL:0000042	"" []	555255	\N	\N	EFO	2	EFO	granulocytopoietic cell	neutrophilic myeloblast
CL:0000763	CL:0000835	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000042	"" []	555256	\N	\N	EFO	2	EFO	myeloid cell	neutrophilic myeloblast
CL:0002191	CL:0000835	\N	"" []	CL:0000042	"" []	555257	\N	\N	EFO	2	EFO	granulocytopoietic cell	neutrophilic myeloblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000042	"" []	1137930	\N	\N	EFO	3	EFO	hematopoietic cell	neutrophilic myeloblast
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000042	"" []	1137931	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	neutrophilic myeloblast
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000042	"" []	1137932	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	neutrophilic myeloblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000042	"" []	2021052	\N	\N	EFO	4	EFO	somatic cell	neutrophilic myeloblast
CL:0002031	CL:0000839	\N	"" []	CL:0000042	"" []	2021053	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	neutrophilic myeloblast
CL:0002031	CL:0000839	\N	"" []	CL:0000042	"" []	2021054	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	neutrophilic myeloblast
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000042	"" []	3175773	\N	\N	EFO	5	EFO	hematopoietic cell	neutrophilic myeloblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000042	"" []	4386563	\N	\N	EFO	6	EFO	cell type	neutrophilic myeloblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000042	"" []	5407765	\N	\N	EFO	7	EFO	material entity	neutrophilic myeloblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000042	"" []	6146820	\N	\N	EFO	8	EFO	experimental factor	neutrophilic myeloblast
CL:0000043	\N	\N	"" []	CL:0000043	"" []	62877	\N	\N	EFO	0	EFO	mature basophil	mature basophil
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0000043	"" []	194036	\N	\N	EFO	0	EFO	nucleate cell	mature basophil
CL:0002274	\N	\N	"A cell type that secretes histamine." [GOC:tfm]	CL:0000043	"" []	194037	\N	\N	EFO	0	EFO	histamine secreting cell	mature basophil
CL:0000767	CL:0000043	\N	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	CL:0000043	"" []	202353	\N	\N	EFO	1	EFO	basophil	mature basophil
CL:0000767	CL:0000043	\N	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	CL:0000043	"" []	202354	\N	\N	EFO	1	EFO	basophil	mature basophil
CL:0000094	CL:0000767	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000043	"" []	555258	\N	\N	EFO	2	EFO	granulocyte	mature basophil
CL:0000094	CL:0000767	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000043	"" []	555259	\N	\N	EFO	2	EFO	granulocyte	mature basophil
CL:0000766	CL:0000094	\N	"" []	CL:0000043	"" []	1137933	\N	\N	EFO	3	EFO	myeloid leukocyte	mature basophil
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000043	"" []	1137934	\N	\N	EFO	3	EFO	blood cell	mature basophil
CL:0000766	CL:0000094	\N	"" []	CL:0000043	"" []	1137935	\N	\N	EFO	3	EFO	myeloid leukocyte	mature basophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000043	"" []	2021055	\N	\N	EFO	4	EFO	leukocyte	mature basophil
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000043	"" []	2021056	\N	\N	EFO	4	EFO	hematopoietic cell	mature basophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000043	"" []	2021057	\N	\N	EFO	4	EFO	leukocyte	mature basophil
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000043	"" []	2021058	\N	\N	EFO	4	EFO	myeloid cell	mature basophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000043	"" []	3175774	\N	\N	EFO	5	EFO	hematopoietic cell	mature basophil
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000043	"" []	4386565	\N	\N	EFO	6	EFO	somatic cell	mature basophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000043	"" []	3175776	\N	\N	EFO	5	EFO	hematopoietic cell	mature basophil
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000043	"" []	3175777	\N	\N	EFO	5	EFO	hematopoietic cell	mature basophil
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000043	"" []	4386564	\N	\N	EFO	6	EFO	cell type	mature basophil
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000043	"" []	5407766	\N	\N	EFO	7	EFO	material entity	mature basophil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000043	"" []	6146821	\N	\N	EFO	8	EFO	experimental factor	mature basophil
CL:0000047	\N	\N	"Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has  the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors." []	CL:0000047	"Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has  the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors." []	62878	\N	\N	EFO	0	EFO	neuronal stem cell	neuronal stem cell
CL:0000034	CL:0000047	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0000047	"Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has  the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors." []	202355	\N	\N	EFO	1	EFO	stem cell	neuronal stem cell
CL:0000048	CL:0000047	\N	"A stem cell that can give rise to multiple lineages of cells." []	CL:0000047	"Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has  the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors." []	202356	\N	\N	EFO	1	EFO	multipotent stem cell	neuronal stem cell
CL:0002319	CL:0000047	\N	"" []	CL:0000047	"Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has  the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors." []	202357	\N	\N	EFO	1	EFO	neural cell	neuronal stem cell
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000047	"Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has  the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors." []	555260	\N	\N	EFO	2	EFO	cell type	neuronal stem cell
CL:0000034	CL:0000048	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0000047	"Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has  the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors." []	555261	\N	\N	EFO	2	EFO	stem cell	neuronal stem cell
CL:0002371	CL:0000048	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000047	"Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has  the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors." []	555262	\N	\N	EFO	2	EFO	somatic cell	neuronal stem cell
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000047	"Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has  the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors." []	555263	\N	\N	EFO	2	EFO	somatic cell	neuronal stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000047	"Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has  the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors." []	1137936	\N	\N	EFO	3	EFO	material entity	neuronal stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000047	"Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has  the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors." []	2021059	\N	\N	EFO	4	EFO	experimental factor	neuronal stem cell
CL:0000048	\N	\N	"A stem cell that can give rise to multiple lineages of cells." []	CL:0000048	"A stem cell that can give rise to multiple lineages of cells." []	62879	\N	\N	EFO	0	EFO	multipotent stem cell	multipotent stem cell
CL:0000034	CL:0000048	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0000048	"A stem cell that can give rise to multiple lineages of cells." []	202358	\N	\N	EFO	1	EFO	stem cell	multipotent stem cell
CL:0000034	CL:0000048	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0000048	"A stem cell that can give rise to multiple lineages of cells." []	202359	\N	\N	EFO	1	EFO	stem cell	multipotent stem cell
CL:0002371	CL:0000048	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000048	"A stem cell that can give rise to multiple lineages of cells." []	202360	\N	\N	EFO	1	EFO	somatic cell	multipotent stem cell
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000048	"A stem cell that can give rise to multiple lineages of cells." []	555264	\N	\N	EFO	2	EFO	cell type	multipotent stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000048	"A stem cell that can give rise to multiple lineages of cells." []	1137937	\N	\N	EFO	3	EFO	material entity	multipotent stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000048	"A stem cell that can give rise to multiple lineages of cells." []	2021060	\N	\N	EFO	4	EFO	experimental factor	multipotent stem cell
CL:0000049	\N	\N	"" []	CL:0000049	"" []	62880	\N	\N	EFO	0	EFO	common myeloid progenitor	common myeloid progenitor
CL:0002032	CL:0000049	\N	"" []	CL:0000049	"" []	202361	\N	\N	EFO	1	EFO	hematopoietic oligopotent progenitor cell	common myeloid progenitor
CL:0002032	CL:0000049	\N	"" []	CL:0000049	"" []	202362	\N	\N	EFO	1	EFO	hematopoietic oligopotent progenitor cell	common myeloid progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0000049	"" []	555265	\N	\N	EFO	2	EFO	hematopoietic cell	common myeloid progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000049	"" []	1137938	\N	\N	EFO	3	EFO	cell type	common myeloid progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000049	"" []	2021061	\N	\N	EFO	4	EFO	material entity	common myeloid progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000049	"" []	3175778	\N	\N	EFO	5	EFO	experimental factor	common myeloid progenitor
CL:0000050	\N	\N	"" []	CL:0000050	"" []	62881	\N	\N	EFO	0	EFO	megakaryocyte-erythroid progenitor cell	megakaryocyte-erythroid progenitor cell
CL:0011115	\N	\N	"A cell that, by division or terminal differentiation, can give rise to other cell types." [GOC:dos]	CL:0000050	"" []	194038	\N	\N	EFO	0	EFO	precursor cell	megakaryocyte-erythroid progenitor cell
CL:0000763	CL:0000050	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000050	"" []	202363	\N	\N	EFO	1	EFO	myeloid cell	megakaryocyte-erythroid progenitor cell
CL:0002032	CL:0000050	\N	"" []	CL:0000050	"" []	202364	\N	\N	EFO	1	EFO	hematopoietic oligopotent progenitor cell	megakaryocyte-erythroid progenitor cell
CL:0002032	CL:0000050	\N	"" []	CL:0000050	"" []	202365	\N	\N	EFO	1	EFO	hematopoietic oligopotent progenitor cell	megakaryocyte-erythroid progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000050	"" []	555266	\N	\N	EFO	2	EFO	hematopoietic cell	megakaryocyte-erythroid progenitor cell
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0000050	"" []	555267	\N	\N	EFO	2	EFO	hematopoietic cell	megakaryocyte-erythroid progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000050	"" []	1137939	\N	\N	EFO	3	EFO	somatic cell	megakaryocyte-erythroid progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000050	"" []	1137940	\N	\N	EFO	3	EFO	cell type	megakaryocyte-erythroid progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000050	"" []	2021062	\N	\N	EFO	4	EFO	material entity	megakaryocyte-erythroid progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000050	"" []	3175779	\N	\N	EFO	5	EFO	experimental factor	megakaryocyte-erythroid progenitor cell
CL:0000051	\N	\N	"" []	CL:0000051	"" []	62882	\N	\N	EFO	0	EFO	common lymphoid progenitor	common lymphoid progenitor
CL:0011115	\N	\N	"A cell that, by division or terminal differentiation, can give rise to other cell types." [GOC:dos]	CL:0000051	"" []	194039	\N	\N	EFO	0	EFO	precursor cell	common lymphoid progenitor
CL:0002032	CL:0000051	\N	"" []	CL:0000051	"" []	202366	\N	\N	EFO	1	EFO	hematopoietic oligopotent progenitor cell	common lymphoid progenitor
CL:0002032	CL:0000051	\N	"" []	CL:0000051	"" []	202367	\N	\N	EFO	1	EFO	hematopoietic oligopotent progenitor cell	common lymphoid progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0000051	"" []	555268	\N	\N	EFO	2	EFO	hematopoietic cell	common lymphoid progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000051	"" []	1137941	\N	\N	EFO	3	EFO	cell type	common lymphoid progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000051	"" []	2021063	\N	\N	EFO	4	EFO	material entity	common lymphoid progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000051	"" []	3175780	\N	\N	EFO	5	EFO	experimental factor	common lymphoid progenitor
CL:0000055	\N	\N	"A precursor cell with a limited number of potential fates." []	CL:0000055	"A precursor cell with a limited number of potential fates." []	62883	\N	\N	EFO	0	EFO	blast cell	blast cell
CL:0011115	\N	\N	"A cell that, by division or terminal differentiation, can give rise to other cell types." [GOC:dos]	CL:0000055	"A precursor cell with a limited number of potential fates." []	194040	\N	\N	EFO	0	EFO	precursor cell	blast cell
EFO:0000324	CL:0000055	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000055	"A precursor cell with a limited number of potential fates." []	202368	\N	\N	EFO	1	EFO	cell type	blast cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000055	"A precursor cell with a limited number of potential fates." []	555269	\N	\N	EFO	2	EFO	material entity	blast cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000055	"A precursor cell with a limited number of potential fates." []	1137942	\N	\N	EFO	3	EFO	experimental factor	blast cell
CL:0000056	\N	\N	"An embryonic cell that becomes a cell of muscle fiber." []	CL:0000056	"An embryonic cell that becomes a cell of muscle fiber." []	62884	\N	\N	EFO	0	EFO	myoblast	myoblast
CL:0000680	\N	\N	"A non-terminally differentiated cell that is capable of developing into a muscle cell." [GOC:add]	CL:0000056	"An embryonic cell that becomes a cell of muscle fiber." []	194041	\N	\N	EFO	0	EFO	muscle precursor cell	myoblast
CL:0002321	CL:0000056	\N	"A cell of the embryo." []	CL:0000056	"An embryonic cell that becomes a cell of muscle fiber." []	202369	\N	\N	EFO	1	EFO	embryonic cell	myoblast
EFO:0000324	CL:0002321	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000056	"An embryonic cell that becomes a cell of muscle fiber." []	555270	\N	\N	EFO	2	EFO	cell type	myoblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000056	"An embryonic cell that becomes a cell of muscle fiber." []	1137943	\N	\N	EFO	3	EFO	material entity	myoblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000056	"An embryonic cell that becomes a cell of muscle fiber." []	2021064	\N	\N	EFO	4	EFO	experimental factor	myoblast
CL:0000057	\N	\N	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	CL:0000057	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	62885	\N	\N	EFO	0	EFO	fibroblast	fibroblast
CL:0002320	\N	\N	"A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone." [GOC:tfm, ISBN:0618947256]	CL:0000057	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	194042	\N	\N	EFO	0	EFO	connective tissue cell	fibroblast
EFO:0000324	CL:0000057	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000057	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	202370	\N	\N	EFO	1	EFO	cell type	fibroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000057	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	555271	\N	\N	EFO	2	EFO	material entity	fibroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000057	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	1137944	\N	\N	EFO	3	EFO	experimental factor	fibroblast
CL:0000062	\N	\N	"A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone." []	CL:0000062	"A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone." []	62886	\N	\N	EFO	0	EFO	osteoblast	osteoblast
CL:0002320	\N	\N	"A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone." [GOC:tfm, ISBN:0618947256]	CL:0000062	"A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone." []	194043	\N	\N	EFO	0	EFO	connective tissue cell	osteoblast
CL:0000055	CL:0000062	\N	"A precursor cell with a limited number of potential fates." []	CL:0000062	"A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone." []	202371	\N	\N	EFO	1	EFO	blast cell	osteoblast
EFO:0000324	CL:0000062	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000062	"A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone." []	202372	\N	\N	EFO	1	EFO	cell type	osteoblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000062	"A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone." []	555272	\N	\N	EFO	2	EFO	material entity	osteoblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000062	"A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone." []	1137945	\N	\N	EFO	3	EFO	experimental factor	osteoblast
CL:0000065	\N	\N	"A neurectoderm derived cell that lines the neural lumen. [ JB:jb GOC:tfm PMID:9550134 ]" []	CL:0000065	"A neurectoderm derived cell that lines the neural lumen. [ JB:jb GOC:tfm PMID:9550134 ]" []	62887	\N	\N	EFO	0	EFO	ependymal cell	ependymal cell
CL:0000067	\N	\N	"An epithelial cell that has a cillia." [GOC:tfm]	CL:0000065	"A neurectoderm derived cell that lines the neural lumen. [ JB:jb GOC:tfm PMID:9550134 ]" []	194044	\N	\N	EFO	0	EFO	ciliated epithelial cell	ependymal cell
CL:0000710	\N	\N	"Epithelial cells derived from neural plate and neural crest." [GOC:tfm]	CL:0000065	"A neurectoderm derived cell that lines the neural lumen. [ JB:jb GOC:tfm PMID:9550134 ]" []	194045	\N	\N	EFO	0	EFO	neurecto-epithelial cell	ependymal cell
CL:0000066	CL:0000065	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0000065	"A neurectoderm derived cell that lines the neural lumen. [ JB:jb GOC:tfm PMID:9550134 ]" []	202373	\N	\N	EFO	1	EFO	epithelial cell	ependymal cell
EFO:0000324	CL:0000066	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000065	"A neurectoderm derived cell that lines the neural lumen. [ JB:jb GOC:tfm PMID:9550134 ]" []	555273	\N	\N	EFO	2	EFO	cell type	ependymal cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000065	"A neurectoderm derived cell that lines the neural lumen. [ JB:jb GOC:tfm PMID:9550134 ]" []	1137946	\N	\N	EFO	3	EFO	material entity	ependymal cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000065	"A neurectoderm derived cell that lines the neural lumen. [ JB:jb GOC:tfm PMID:9550134 ]" []	2021065	\N	\N	EFO	4	EFO	experimental factor	ependymal cell
CL:0000066	\N	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0000066	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	62888	\N	\N	EFO	0	EFO	epithelial cell	epithelial cell
CL:0000548	\N	\N	"" []	CL:0000066	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	194046	\N	ubprop_upper_level	EFO	0	EFO	animal cell	epithelial cell
EFO:0000324	CL:0000066	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000066	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	202374	\N	\N	EFO	1	EFO	cell type	epithelial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000066	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	555274	\N	\N	EFO	2	EFO	material entity	epithelial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000066	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	1137947	\N	\N	EFO	3	EFO	experimental factor	epithelial cell
CL:0000071	\N	\N	"The endothelial cells that line the vasculature." []	CL:0000071	"The endothelial cells that line the vasculature." []	62889	\N	\N	EFO	0	EFO	blood vessel endothelial cell	blood vessel endothelial cell
CL:0000076	\N	\N	"" []	CL:0000071	"The endothelial cells that line the vasculature." []	194047	\N	\N	EFO	0	EFO	squamous epithelial cell	blood vessel endothelial cell
CL:0002139	\N	\N	"An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels." [GOC:dsd, GOC:tfm, PMID:12768659]	CL:0000071	"The endothelial cells that line the vasculature." []	194048	\N	\N	EFO	0	EFO	endothelial cell of vascular tree	blood vessel endothelial cell
CL:0000115	CL:0000071	\N	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	CL:0000071	"The endothelial cells that line the vasculature." []	202375	\N	\N	EFO	1	EFO	endothelial cell	blood vessel endothelial cell
EFO:0000324	CL:0000115	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000071	"The endothelial cells that line the vasculature." []	555275	\N	\N	EFO	2	EFO	cell type	blood vessel endothelial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000071	"The endothelial cells that line the vasculature." []	1137948	\N	\N	EFO	3	EFO	material entity	blood vessel endothelial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000071	"The endothelial cells that line the vasculature." []	2021066	\N	\N	EFO	4	EFO	experimental factor	blood vessel endothelial cell
CL:0000077	\N	\N	"A flattened epithelial cell of mesenchymal origin that lines the serous cavity." []	CL:0000077	"A flattened epithelial cell of mesenchymal origin that lines the serous cavity." []	62890	\N	\N	EFO	0	EFO	mesothelial cell	mesothelial cell
CL:0000076	\N	\N	"" []	CL:0000077	"A flattened epithelial cell of mesenchymal origin that lines the serous cavity." []	194049	\N	\N	EFO	0	EFO	squamous epithelial cell	mesothelial cell
CL:0000213	\N	\N	"A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism." [JB:jb]	CL:0000077	"A flattened epithelial cell of mesenchymal origin that lines the serous cavity." []	194050	\N	\N	EFO	0	EFO	lining cell	mesothelial cell
CL:0002078	\N	\N	"Epithelial cell derived from mesoderm or mesenchyme." [FMA:69076, GOC:tfm]	CL:0000077	"A flattened epithelial cell of mesenchymal origin that lines the serous cavity." []	194051	\N	\N	EFO	0	EFO	meso-epithelial cell	mesothelial cell
CL:0000066	CL:0000077	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0000077	"A flattened epithelial cell of mesenchymal origin that lines the serous cavity." []	202376	\N	\N	EFO	1	EFO	epithelial cell	mesothelial cell
EFO:0000324	CL:0000066	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000077	"A flattened epithelial cell of mesenchymal origin that lines the serous cavity." []	555276	\N	\N	EFO	2	EFO	cell type	mesothelial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000077	"A flattened epithelial cell of mesenchymal origin that lines the serous cavity." []	1137949	\N	\N	EFO	3	EFO	material entity	mesothelial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000077	"A flattened epithelial cell of mesenchymal origin that lines the serous cavity." []	2021067	\N	\N	EFO	4	EFO	experimental factor	mesothelial cell
CL:0000080	\N	\N	"A cell which moves among different tissues of the body, via blood, lymph, or other medium." []	CL:0000080	"A cell which moves among different tissues of the body, via blood, lymph, or other medium." []	62891	\N	\N	EFO	0	EFO	circulating cell	circulating cell
CL:0000003	\N	\N	"A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment)." [CARO:mah]	CL:0000080	"A cell which moves among different tissues of the body, via blood, lymph, or other medium." []	194052	\N	ubprop_upper_level	EFO	0	EFO	native cell	circulating cell
CL:0000988	CL:0000080	\N	"A cell of a hematopoietic lineage." []	CL:0000080	"A cell which moves among different tissues of the body, via blood, lymph, or other medium." []	202377	\N	\N	EFO	1	EFO	hematopoietic cell	circulating cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000080	"A cell which moves among different tissues of the body, via blood, lymph, or other medium." []	555277	\N	\N	EFO	2	EFO	cell type	circulating cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000080	"A cell which moves among different tissues of the body, via blood, lymph, or other medium." []	1137950	\N	\N	EFO	3	EFO	material entity	circulating cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000080	"A cell which moves among different tissues of the body, via blood, lymph, or other medium." []	2021068	\N	\N	EFO	4	EFO	experimental factor	circulating cell
CL:0000081	\N	\N	"A cell found predominately in the blood." []	CL:0000081	"A cell found predominately in the blood." []	62892	\N	\N	EFO	0	EFO	blood cell	blood cell
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000081	"A cell found predominately in the blood." []	202378	\N	\N	EFO	1	EFO	hematopoietic cell	blood cell
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000081	"A cell found predominately in the blood." []	202379	\N	\N	EFO	1	EFO	hematopoietic cell	blood cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000081	"A cell found predominately in the blood." []	555278	\N	\N	EFO	2	EFO	cell type	blood cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000081	"A cell found predominately in the blood." []	555279	\N	\N	EFO	2	EFO	somatic cell	blood cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000081	"A cell found predominately in the blood." []	1137951	\N	\N	EFO	3	EFO	material entity	blood cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000081	"A cell found predominately in the blood." []	2021069	\N	\N	EFO	4	EFO	experimental factor	blood cell
CL:0000083	\N	\N	"Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done." []	CL:0000083	"Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done." []	62893	\N	\N	EFO	0	EFO	exocrine pancreas cell	exocrine pancreas cell
CL:0000066	CL:0000083	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0000083	"Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done." []	202380	\N	\N	EFO	1	EFO	epithelial cell	exocrine pancreas cell
CL:0002371	CL:0000083	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000083	"Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done." []	202381	\N	\N	EFO	1	EFO	somatic cell	exocrine pancreas cell
EFO:0002966	CL:0000083	\N	"" []	CL:0000083	"Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done." []	202382	\N	\N	EFO	1	EFO	pancreatic cell	exocrine pancreas cell
EFO:0000324	EFO:0002966	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000083	"Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done." []	555280	\N	\N	EFO	2	EFO	cell type	exocrine pancreas cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000083	"Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done." []	1137952	\N	\N	EFO	3	EFO	material entity	exocrine pancreas cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000083	"Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done." []	2021070	\N	\N	EFO	4	EFO	experimental factor	exocrine pancreas cell
CL:0000084	\N	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000084	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	62894	\N	\N	EFO	0	EFO	T cell	T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000084	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	202383	\N	\N	EFO	1	EFO	lymphocyte	T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000084	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	202384	\N	\N	EFO	1	EFO	lymphocyte	T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000084	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	555281	\N	\N	EFO	2	EFO	leukocyte	T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000084	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	555282	\N	\N	EFO	2	EFO	nongranular leukocyte	T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000084	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	1137953	\N	\N	EFO	3	EFO	hematopoietic cell	T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000084	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	1137954	\N	\N	EFO	3	EFO	leukocyte	T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000084	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	2021071	\N	\N	EFO	4	EFO	cell type	T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000084	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	2021072	\N	\N	EFO	4	EFO	hematopoietic cell	T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000084	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	3175781	\N	\N	EFO	5	EFO	material entity	T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000084	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	3175782	\N	\N	EFO	5	EFO	somatic cell	T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000084	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	4386566	\N	\N	EFO	6	EFO	experimental factor	T cell
CL:0000091	\N	\N	"" []	CL:0000091	"" []	62895	\N	\N	EFO	0	EFO	Kupffer cell	Kupffer cell
CL:0000864	CL:0000091	\N	"" []	CL:0000091	"" []	202385	\N	\N	EFO	1	EFO	tissue-resident macrophage	Kupffer cell
CL:0000864	CL:0000091	\N	"" []	CL:0000091	"" []	202386	\N	\N	EFO	1	EFO	tissue-resident macrophage	Kupffer cell
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000091	"" []	555283	\N	\N	EFO	2	EFO	macrophage	Kupffer cell
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000091	"" []	555284	\N	\N	EFO	2	EFO	macrophage	Kupffer cell
CL:0000766	CL:0000235	\N	"" []	CL:0000091	"" []	1137955	\N	\N	EFO	3	EFO	myeloid leukocyte	Kupffer cell
CL:0000766	CL:0000235	\N	"" []	CL:0000091	"" []	1137956	\N	\N	EFO	3	EFO	myeloid leukocyte	Kupffer cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000091	"" []	2021073	\N	\N	EFO	4	EFO	leukocyte	Kupffer cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000091	"" []	2021074	\N	\N	EFO	4	EFO	leukocyte	Kupffer cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000091	"" []	2021075	\N	\N	EFO	4	EFO	myeloid cell	Kupffer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000091	"" []	3175783	\N	\N	EFO	5	EFO	hematopoietic cell	Kupffer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000091	"" []	3175784	\N	\N	EFO	5	EFO	hematopoietic cell	Kupffer cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000091	"" []	3175785	\N	\N	EFO	5	EFO	hematopoietic cell	Kupffer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000091	"" []	4386567	\N	\N	EFO	6	EFO	cell type	Kupffer cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000091	"" []	4386568	\N	\N	EFO	6	EFO	somatic cell	Kupffer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000091	"" []	5407767	\N	\N	EFO	7	EFO	material entity	Kupffer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000091	"" []	6146822	\N	\N	EFO	8	EFO	experimental factor	Kupffer cell
CL:0000092	\N	\N	"" []	CL:0000092	"" []	62896	\N	\N	EFO	0	EFO	osteoclast	osteoclast
CL:0001035	\N	\N	"A connective tissue cell found in bone." [GO_REF:0000034, GOC:add]	CL:0000092	"" []	194053	\N	\N	EFO	0	EFO	bone cell	osteoclast
CL:0000766	CL:0000092	\N	"" []	CL:0000092	"" []	202387	\N	\N	EFO	1	EFO	myeloid leukocyte	osteoclast
CL:0000766	CL:0000092	\N	"" []	CL:0000092	"" []	202388	\N	\N	EFO	1	EFO	myeloid leukocyte	osteoclast
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000092	"" []	555285	\N	\N	EFO	2	EFO	leukocyte	osteoclast
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000092	"" []	555286	\N	\N	EFO	2	EFO	leukocyte	osteoclast
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000092	"" []	555287	\N	\N	EFO	2	EFO	myeloid cell	osteoclast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000092	"" []	1137957	\N	\N	EFO	3	EFO	hematopoietic cell	osteoclast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000092	"" []	1137958	\N	\N	EFO	3	EFO	hematopoietic cell	osteoclast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000092	"" []	1137959	\N	\N	EFO	3	EFO	hematopoietic cell	osteoclast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000092	"" []	2021076	\N	\N	EFO	4	EFO	cell type	osteoclast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000092	"" []	2021077	\N	\N	EFO	4	EFO	somatic cell	osteoclast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000092	"" []	3175786	\N	\N	EFO	5	EFO	material entity	osteoclast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000092	"" []	4386569	\N	\N	EFO	6	EFO	experimental factor	osteoclast
CL:0000094	\N	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	62897	\N	\N	EFO	0	EFO	granulocyte	granulocyte
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	202389	\N	\N	EFO	1	EFO	blood cell	granulocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	202390	\N	\N	EFO	1	EFO	myeloid leukocyte	granulocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	202391	\N	\N	EFO	1	EFO	myeloid leukocyte	granulocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	555288	\N	\N	EFO	2	EFO	hematopoietic cell	granulocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	555289	\N	\N	EFO	2	EFO	leukocyte	granulocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	555290	\N	\N	EFO	2	EFO	leukocyte	granulocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	555291	\N	\N	EFO	2	EFO	myeloid cell	granulocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	2021079	\N	\N	EFO	4	EFO	somatic cell	granulocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	1137961	\N	\N	EFO	3	EFO	hematopoietic cell	granulocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	1137962	\N	\N	EFO	3	EFO	hematopoietic cell	granulocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	1137963	\N	\N	EFO	3	EFO	hematopoietic cell	granulocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	2021078	\N	\N	EFO	4	EFO	cell type	granulocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	3175787	\N	\N	EFO	5	EFO	material entity	granulocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000094	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	4386570	\N	\N	EFO	6	EFO	experimental factor	granulocyte
CL:0000096	\N	\N	"" []	CL:0000096	"" []	62898	\N	\N	EFO	0	EFO	mature neutrophil	mature neutrophil
CL:0000234	\N	\N	"Any cell capable of ingesting particulate matter via phagocytosis." [GOC:add, ISBN:0721601464]	CL:0000096	"" []	194054	\N	\N	EFO	0	EFO	phagocyte	mature neutrophil
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0000096	"" []	194055	\N	\N	EFO	0	EFO	nucleate cell	mature neutrophil
CL:0000775	CL:0000096	\N	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	CL:0000096	"" []	202392	\N	\N	EFO	1	EFO	neutrophil	mature neutrophil
CL:0000775	CL:0000096	\N	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	CL:0000096	"" []	202393	\N	\N	EFO	1	EFO	neutrophil	mature neutrophil
CL:0000094	CL:0000775	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000096	"" []	555292	\N	\N	EFO	2	EFO	granulocyte	mature neutrophil
CL:0000094	CL:0000775	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000096	"" []	555293	\N	\N	EFO	2	EFO	granulocyte	mature neutrophil
CL:0000766	CL:0000094	\N	"" []	CL:0000096	"" []	1137964	\N	\N	EFO	3	EFO	myeloid leukocyte	mature neutrophil
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000096	"" []	1137965	\N	\N	EFO	3	EFO	blood cell	mature neutrophil
CL:0000766	CL:0000094	\N	"" []	CL:0000096	"" []	1137966	\N	\N	EFO	3	EFO	myeloid leukocyte	mature neutrophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000096	"" []	2021080	\N	\N	EFO	4	EFO	leukocyte	mature neutrophil
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000096	"" []	2021081	\N	\N	EFO	4	EFO	hematopoietic cell	mature neutrophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000096	"" []	2021082	\N	\N	EFO	4	EFO	leukocyte	mature neutrophil
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000096	"" []	2021083	\N	\N	EFO	4	EFO	myeloid cell	mature neutrophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000096	"" []	3175788	\N	\N	EFO	5	EFO	hematopoietic cell	mature neutrophil
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000096	"" []	4386572	\N	\N	EFO	6	EFO	somatic cell	mature neutrophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000096	"" []	3175790	\N	\N	EFO	5	EFO	hematopoietic cell	mature neutrophil
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000096	"" []	3175791	\N	\N	EFO	5	EFO	hematopoietic cell	mature neutrophil
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000096	"" []	4386571	\N	\N	EFO	6	EFO	cell type	mature neutrophil
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000096	"" []	5407768	\N	\N	EFO	7	EFO	material entity	mature neutrophil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000096	"" []	6146823	\N	\N	EFO	8	EFO	experimental factor	mature neutrophil
CL:0000097	\N	\N	"" []	CL:0000097	"" []	62899	\N	\N	EFO	0	EFO	mast cell	mast cell
CL:0002274	\N	\N	"A cell type that secretes histamine." [GOC:tfm]	CL:0000097	"" []	194056	\N	\N	EFO	0	EFO	histamine secreting cell	mast cell
CL:0000766	CL:0000097	\N	"" []	CL:0000097	"" []	202394	\N	\N	EFO	1	EFO	myeloid leukocyte	mast cell
CL:0000766	CL:0000097	\N	"" []	CL:0000097	"" []	202395	\N	\N	EFO	1	EFO	myeloid leukocyte	mast cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000097	"" []	555294	\N	\N	EFO	2	EFO	leukocyte	mast cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000097	"" []	555295	\N	\N	EFO	2	EFO	leukocyte	mast cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000097	"" []	555296	\N	\N	EFO	2	EFO	myeloid cell	mast cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000097	"" []	1137967	\N	\N	EFO	3	EFO	hematopoietic cell	mast cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000097	"" []	1137968	\N	\N	EFO	3	EFO	hematopoietic cell	mast cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000097	"" []	1137969	\N	\N	EFO	3	EFO	hematopoietic cell	mast cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000097	"" []	2021084	\N	\N	EFO	4	EFO	cell type	mast cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000097	"" []	2021085	\N	\N	EFO	4	EFO	somatic cell	mast cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000097	"" []	3175792	\N	\N	EFO	5	EFO	material entity	mast cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000097	"" []	4386573	\N	\N	EFO	6	EFO	experimental factor	mast cell
CL:0000099	\N	\N	"Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions." []	CL:0000099	"Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions." []	62900	\N	\N	EFO	0	EFO	interneuron	interneuron
CL:0000540	CL:0000099	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000099	"Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions." []	202396	\N	\N	EFO	1	EFO	neuron	interneuron
CL:0000540	CL:0000099	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000099	"Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions." []	202397	\N	\N	EFO	1	EFO	neuron	interneuron
EFO:0002963	CL:0000540	\N	"" []	CL:0000099	"Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions." []	555297	\N	\N	EFO	2	EFO	nervous system cell	interneuron
CL:0002319	CL:0000540	\N	"" []	CL:0000099	"Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions." []	555298	\N	\N	EFO	2	EFO	neural cell	interneuron
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000099	"Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions." []	1137970	\N	\N	EFO	3	EFO	cell type	interneuron
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000099	"Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions." []	1137971	\N	\N	EFO	3	EFO	somatic cell	interneuron
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000099	"Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions." []	2021086	\N	\N	EFO	4	EFO	material entity	interneuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000099	"Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions." []	3175793	\N	\N	EFO	5	EFO	experimental factor	interneuron
CL:0000100	\N	\N	"Neurons which activate muscle cells (MSH)." []	CL:0000100	"Neurons which activate muscle cells (MSH)." []	62901	\N	\N	EFO	0	EFO	motor neuron	motor neuron
CL:0000527	\N	\N	"A neuron which sends impulses peripherally to activate muscles or secretory cells." [MESH:A08.663.655]	CL:0000100	"Neurons which activate muscle cells (MSH)." []	194057	\N	\N	EFO	0	EFO	efferent neuron	motor neuron
CL:0000540	CL:0000100	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000100	"Neurons which activate muscle cells (MSH)." []	202398	\N	\N	EFO	1	EFO	neuron	motor neuron
EFO:0002963	CL:0000540	\N	"" []	CL:0000100	"Neurons which activate muscle cells (MSH)." []	555299	\N	\N	EFO	2	EFO	nervous system cell	motor neuron
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000100	"Neurons which activate muscle cells (MSH)." []	1137972	\N	\N	EFO	3	EFO	cell type	motor neuron
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000100	"Neurons which activate muscle cells (MSH)." []	2021087	\N	\N	EFO	4	EFO	material entity	motor neuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000100	"Neurons which activate muscle cells (MSH)." []	3175794	\N	\N	EFO	5	EFO	experimental factor	motor neuron
CL:0000101	\N	\N	"Any neuron having a sensory function; an afferent neuron conveying sensory impulses." []	CL:0000101	"Any neuron having a sensory function; an afferent neuron conveying sensory impulses." []	62902	\N	\N	EFO	0	EFO	sensory neuron	sensory neuron
CL:0000526	\N	\N	"A neuron which conveys sensory information centrally from the periphery." [GOC:tfm, MESH:A08.663.650]	CL:0000101	"Any neuron having a sensory function; an afferent neuron conveying sensory impulses." []	194058	\N	\N	EFO	0	EFO	afferent neuron	sensory neuron
CL:0000540	CL:0000101	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000101	"Any neuron having a sensory function; an afferent neuron conveying sensory impulses." []	202399	\N	\N	EFO	1	EFO	neuron	sensory neuron
EFO:0002963	CL:0000540	\N	"" []	CL:0000101	"Any neuron having a sensory function; an afferent neuron conveying sensory impulses." []	555300	\N	\N	EFO	2	EFO	nervous system cell	sensory neuron
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000101	"Any neuron having a sensory function; an afferent neuron conveying sensory impulses." []	1137973	\N	\N	EFO	3	EFO	cell type	sensory neuron
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000101	"Any neuron having a sensory function; an afferent neuron conveying sensory impulses." []	2021088	\N	\N	EFO	4	EFO	material entity	sensory neuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000101	"Any neuron having a sensory function; an afferent neuron conveying sensory impulses." []	3175795	\N	\N	EFO	5	EFO	experimental factor	sensory neuron
CL:0000111	\N	\N	"A neuron that is part of nerve found outside the central nervous system." []	CL:0000111	"A neuron that is part of nerve found outside the central nervous system." []	62903	\N	\N	EFO	0	EFO	somatic nervous system	somatic nervous system
UBERON:0001017	\N	\N	"The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord[GO]. The part of the nervous system which in vertebrates consists of the brain and spinal cord, to which sensory impulses are transmitted and from which motor impulses pass out, and which supervises and coordinates the activity of the entire nervous system[XAO]. Neuraxis plus retina[INCF]." [FB:gg, ISBN:3110148986, NLM:central+nervous+system, Wikipedia:Central_nervous_system, ZFIN:curator]	CL:0000111	"A neuron that is part of nerve found outside the central nervous system." []	194059	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	central nervous system	somatic nervous system
CL:0000540	CL:0000111	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000111	"A neuron that is part of nerve found outside the central nervous system." []	202400	\N	\N	EFO	1	EFO	neuron	somatic nervous system
CL:0002319	CL:0000540	\N	"" []	CL:0000111	"A neuron that is part of nerve found outside the central nervous system." []	555301	\N	\N	EFO	2	EFO	neural cell	somatic nervous system
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000111	"A neuron that is part of nerve found outside the central nervous system." []	1137974	\N	\N	EFO	3	EFO	somatic cell	somatic nervous system
CL:0000112	\N	\N	"" []	CL:0000112	"" []	62904	\N	\N	EFO	0	EFO	columnar neuron	columnar neuron
CL:0000540	CL:0000112	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000112	"" []	202401	\N	\N	EFO	1	EFO	neuron	columnar neuron
EFO:0002963	CL:0000112	\N	"" []	CL:0000112	"" []	202402	\N	\N	EFO	1	EFO	nervous system cell	columnar neuron
CL:0002319	CL:0000540	\N	"" []	CL:0000112	"" []	555302	\N	\N	EFO	2	EFO	neural cell	columnar neuron
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000112	"" []	555303	\N	\N	EFO	2	EFO	cell type	columnar neuron
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000112	"" []	1137975	\N	\N	EFO	3	EFO	somatic cell	columnar neuron
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000112	"" []	1137976	\N	\N	EFO	3	EFO	material entity	columnar neuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000112	"" []	2021089	\N	\N	EFO	4	EFO	experimental factor	columnar neuron
CL:0000115	\N	\N	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	CL:0000115	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	62905	\N	\N	EFO	0	EFO	endothelial cell	endothelial cell
CL:0000213	\N	\N	"A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism." [JB:jb]	CL:0000115	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	194060	\N	\N	EFO	0	EFO	lining cell	endothelial cell
CL:0002078	\N	\N	"Epithelial cell derived from mesoderm or mesenchyme." [FMA:69076, GOC:tfm]	CL:0000115	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	194061	\N	\N	EFO	0	EFO	meso-epithelial cell	endothelial cell
EFO:0000324	CL:0000115	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000115	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	202403	\N	\N	EFO	1	EFO	cell type	endothelial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000115	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	555304	\N	\N	EFO	2	EFO	material entity	endothelial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000115	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	1137977	\N	\N	EFO	3	EFO	experimental factor	endothelial cell
CL:0000125	\N	\N	"The delicate network of branched cells and fibers that supports the tissue of the central nervous system." []	CL:0000125	"The delicate network of branched cells and fibers that supports the tissue of the central nervous system." []	62906	\N	\N	EFO	0	EFO	glial cell	glial cell
CL:0000095	\N	\N	"" []	CL:0000125	"The delicate network of branched cells and fibers that supports the tissue of the central nervous system." []	194062	\N	\N	EFO	0	EFO	neuron associated cell	glial cell
EFO:0002963	CL:0000125	\N	"" []	CL:0000125	"The delicate network of branched cells and fibers that supports the tissue of the central nervous system." []	202404	\N	\N	EFO	1	EFO	nervous system cell	glial cell
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000125	"The delicate network of branched cells and fibers that supports the tissue of the central nervous system." []	555305	\N	\N	EFO	2	EFO	cell type	glial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000125	"The delicate network of branched cells and fibers that supports the tissue of the central nervous system." []	1137978	\N	\N	EFO	3	EFO	material entity	glial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000125	"The delicate network of branched cells and fibers that supports the tissue of the central nervous system." []	2021090	\N	\N	EFO	4	EFO	experimental factor	glial cell
CL:0000127	\N	\N	"cells) are irregularly shaped with many long processes, including those with \\"end feet\\" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and" []	CL:0000127	"cells) are irregularly shaped with many long processes, including those with \\"end feet\\" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and" []	62907	\N	\N	EFO	0	EFO	astrocyte	astrocyte
CL:0000126	\N	\N	"A neuroglial cell of ectodermal origin, i.e., the astrocytes and oligodendrocytes considered together." [GOC:tfm, ISBN:0721662544]	CL:0000127	"cells) are irregularly shaped with many long processes, including those with \\"end feet\\" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and" []	194063	\N	\N	EFO	0	EFO	macroglial cell	astrocyte
CL:0000125	CL:0000127	\N	"The delicate network of branched cells and fibers that supports the tissue of the central nervous system." []	CL:0000127	"cells) are irregularly shaped with many long processes, including those with \\"end feet\\" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and" []	202405	\N	\N	EFO	1	EFO	glial cell	astrocyte
EFO:0002963	CL:0000125	\N	"" []	CL:0000127	"cells) are irregularly shaped with many long processes, including those with \\"end feet\\" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and" []	555306	\N	\N	EFO	2	EFO	nervous system cell	astrocyte
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000127	"cells) are irregularly shaped with many long processes, including those with \\"end feet\\" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and" []	1137979	\N	\N	EFO	3	EFO	cell type	astrocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000127	"cells) are irregularly shaped with many long processes, including those with \\"end feet\\" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and" []	2021091	\N	\N	EFO	4	EFO	material entity	astrocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000127	"cells) are irregularly shaped with many long processes, including those with \\"end feet\\" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and" []	3175796	\N	\N	EFO	5	EFO	experimental factor	astrocyte
CL:0000128	\N	\N	"A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as satellite cells, perineuronal of ganglia) according to their location. They form the insulating myelin sheath of axons in the central nervous system (MSH)." []	CL:0000128	"A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as satellite cells, perineuronal of ganglia) according to their location. They form the insulating myelin sheath of axons in the central nervous system (MSH)." []	62908	\N	\N	EFO	0	EFO	oligodendrocyte	oligodendrocyte
CL:0000126	\N	\N	"A neuroglial cell of ectodermal origin, i.e., the astrocytes and oligodendrocytes considered together." [GOC:tfm, ISBN:0721662544]	CL:0000128	"A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as satellite cells, perineuronal of ganglia) according to their location. They form the insulating myelin sheath of axons in the central nervous system (MSH)." []	194064	\N	\N	EFO	0	EFO	macroglial cell	oligodendrocyte
EFO:0002963	CL:0000128	\N	"" []	CL:0000128	"A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as satellite cells, perineuronal of ganglia) according to their location. They form the insulating myelin sheath of axons in the central nervous system (MSH)." []	202406	\N	\N	EFO	1	EFO	nervous system cell	oligodendrocyte
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000128	"A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as satellite cells, perineuronal of ganglia) according to their location. They form the insulating myelin sheath of axons in the central nervous system (MSH)." []	555307	\N	\N	EFO	2	EFO	cell type	oligodendrocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000128	"A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as satellite cells, perineuronal of ganglia) according to their location. They form the insulating myelin sheath of axons in the central nervous system (MSH)." []	1137980	\N	\N	EFO	3	EFO	material entity	oligodendrocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000128	"A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as satellite cells, perineuronal of ganglia) according to their location. They form the insulating myelin sheath of axons in the central nervous system (MSH)." []	2021092	\N	\N	EFO	4	EFO	experimental factor	oligodendrocyte
CL:0000129	\N	\N	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	62909	\N	\N	EFO	0	EFO	microglial cell	microglial cell
CL:0000243	\N	\N	"A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear." [MESH:A08.637]	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	194065	\N	\N	EFO	0	EFO	glial cell (sensu Vertebrata)	microglial cell
CL:0000878	CL:0000129	\N	"" []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	202407	\N	\N	EFO	1	EFO	central nervous system macrophage	microglial cell
CL:0000878	CL:0000129	\N	"" []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	202408	\N	\N	EFO	1	EFO	central nervous system macrophage	microglial cell
EFO:0002963	CL:0000129	\N	"" []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	202409	\N	\N	EFO	1	EFO	nervous system cell	microglial cell
CL:0000864	CL:0000878	\N	"" []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	555308	\N	\N	EFO	2	EFO	tissue-resident macrophage	microglial cell
CL:0000864	CL:0000878	\N	"" []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	555309	\N	\N	EFO	2	EFO	tissue-resident macrophage	microglial cell
CL:0002319	CL:0000878	\N	"" []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	555310	\N	\N	EFO	2	EFO	neural cell	microglial cell
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	555311	\N	\N	EFO	2	EFO	cell type	microglial cell
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	1137981	\N	\N	EFO	3	EFO	macrophage	microglial cell
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	1137982	\N	\N	EFO	3	EFO	macrophage	microglial cell
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	1137983	\N	\N	EFO	3	EFO	somatic cell	microglial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	6146824	\N	\N	EFO	8	EFO	material entity	microglial cell
CL:0000766	CL:0000235	\N	"" []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	2021093	\N	\N	EFO	4	EFO	myeloid leukocyte	microglial cell
CL:0000766	CL:0000235	\N	"" []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	2021094	\N	\N	EFO	4	EFO	myeloid leukocyte	microglial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	6370804	\N	\N	EFO	9	EFO	experimental factor	microglial cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	3175797	\N	\N	EFO	5	EFO	leukocyte	microglial cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	3175798	\N	\N	EFO	5	EFO	leukocyte	microglial cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	3175799	\N	\N	EFO	5	EFO	myeloid cell	microglial cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	4386574	\N	\N	EFO	6	EFO	hematopoietic cell	microglial cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	4386575	\N	\N	EFO	6	EFO	hematopoietic cell	microglial cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	4386576	\N	\N	EFO	6	EFO	hematopoietic cell	microglial cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	5407769	\N	\N	EFO	7	EFO	cell type	microglial cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000129	"The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue." []	5407770	\N	\N	EFO	7	EFO	somatic cell	microglial cell
CL:0000136	\N	\N	"A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides." []	CL:0000136	"A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides." []	62910	\N	\N	EFO	0	EFO	fat cell	fat cell
CL:0000325	\N	\N	"A cell that is specialised to accumulate a particular substance(s)." [FB:ma]	CL:0000136	"A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides." []	194066	\N	ubprop_upper_level	EFO	0	EFO	stuff accumulating cell	fat cell
CL:0002320	\N	\N	"A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone." [GOC:tfm, ISBN:0618947256]	CL:0000136	"A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides." []	194067	\N	\N	EFO	0	EFO	connective tissue cell	fat cell
EFO:0000324	CL:0000136	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000136	"A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides." []	202410	\N	\N	EFO	1	EFO	cell type	fat cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000136	"A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides." []	555312	\N	\N	EFO	2	EFO	material entity	fat cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000136	"A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides." []	1137985	\N	\N	EFO	3	EFO	experimental factor	fat cell
CL:0000138	\N	\N	"Polymorphic cell that form cartilage." []	CL:0000138	"Polymorphic cell that form cartilage." []	62911	\N	\N	EFO	0	EFO	chondrocyte	chondrocyte
CL:0000153	\N	\N	"A cell that secretes glycosaminoglycans." [GOC:tfm]	CL:0000138	"Polymorphic cell that form cartilage." []	194068	\N	\N	EFO	0	EFO	glycosaminoglycan secreting cell	chondrocyte
CL:0000667	\N	\N	"An extracellular matrix secreting cell that secretes collagen." [GOC:tfm]	CL:0000138	"Polymorphic cell that form cartilage." []	194069	\N	\N	EFO	0	EFO	collagen secreting cell	chondrocyte
EFO:0000324	CL:0000138	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000138	"Polymorphic cell that form cartilage." []	202411	\N	\N	EFO	1	EFO	cell type	chondrocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000138	"Polymorphic cell that form cartilage." []	555313	\N	\N	EFO	2	EFO	material entity	chondrocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000138	"Polymorphic cell that form cartilage." []	1137986	\N	\N	EFO	3	EFO	experimental factor	chondrocyte
CL:0000148	\N	\N	"An epidermal cell that produces melanin." []	CL:0000148	"An epidermal cell that produces melanin." []	62912	\N	\N	EFO	0	EFO	melanocyte	melanocyte
CL:0000147	\N	\N	"A pigment cell is a cell that contains pigment granules." [GOC:tfm]	CL:0000148	"An epidermal cell that produces melanin." []	194070	\N	\N	EFO	0	EFO	pigment cell	melanocyte
CL:0002371	CL:0000148	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000148	"An epidermal cell that produces melanin." []	202412	\N	\N	EFO	1	EFO	somatic cell	melanocyte
EFO:0000324	CL:0000148	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000148	"An epidermal cell that produces melanin." []	202413	\N	\N	EFO	1	EFO	cell type	melanocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000148	"An epidermal cell that produces melanin." []	555314	\N	\N	EFO	2	EFO	material entity	melanocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000148	"An epidermal cell that produces melanin." []	1137987	\N	\N	EFO	3	EFO	experimental factor	melanocyte
CL:0000151	\N	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000151	"A cell that specializes in controlled release of one or more substances." []	62913	\N	\N	EFO	0	EFO	secretory cell	secretory cell
CL:0000003	\N	\N	"A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment)." [CARO:mah]	CL:0000151	"A cell that specializes in controlled release of one or more substances." []	194071	\N	ubprop_upper_level	EFO	0	EFO	native cell	secretory cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000151	"A cell that specializes in controlled release of one or more substances." []	202414	\N	\N	EFO	1	EFO	cell type	secretory cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000151	"A cell that specializes in controlled release of one or more substances." []	555315	\N	\N	EFO	2	EFO	material entity	secretory cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000151	"A cell that specializes in controlled release of one or more substances." []	1137988	\N	\N	EFO	3	EFO	experimental factor	secretory cell
CL:0000162	\N	\N	"A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl." []	CL:0000162	"A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl." []	62914	\N	\N	EFO	0	EFO	parietal cell	parietal cell
CL:0000161	\N	\N	"" []	CL:0000162	"A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl." []	194072	\N	\N	EFO	0	EFO	acid secreting cell	parietal cell
CL:0002659	\N	\N	"A glandular epithelial cell that is part of the stomach." [GOC:tfm]	CL:0000162	"A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl." []	194073	\N	\N	EFO	0	EFO	glandular cell of stomach	parietal cell
CL:0000151	CL:0000162	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000162	"A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl." []	202415	\N	\N	EFO	1	EFO	secretory cell	parietal cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000162	"A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl." []	555316	\N	\N	EFO	2	EFO	cell type	parietal cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000162	"A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl." []	1137989	\N	\N	EFO	3	EFO	material entity	parietal cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000162	"A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl." []	2021096	\N	\N	EFO	4	EFO	experimental factor	parietal cell
CL:0000165	\N	\N	"Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. In this way they bring about and integration between the nervous system and the endocrine system, a process known as neuroendocrine integration. An example of a neuroendocrine cell is the cell of the adrenal medulla (innermost part of the adrenal gland) which releases adrenalin to the blood. The adrenal medullary cells are controlled by the sympathetic division of the autonomic nervous system. These cells are modified postganglionic neurons. Autonomic nerve fibers lead directly to them from the central nervous system. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood. Some of these these factors, release at the median eminence, control the secretion of pituitary hormones, while others (the hormones oxytocin and vasopressin) are released directly to the peripheral circulation." []	CL:0000165	"Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. In this way they bring about and integration between the nervous system and the endocrine system, a process known as neuroendocrine integration. An example of a neuroendocrine cell is the cell of the adrenal medulla (innermost part of the adrenal gland) which releases adrenalin to the blood. The adrenal medullary cells are controlled by the sympathetic division of the autonomic nervous system. These cells are modified postganglionic neurons. Autonomic nerve fibers lead directly to them from the central nervous system. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood. Some of these these factors, release at the median eminence, control the secretion of pituitary hormones, while others (the hormones oxytocin and vasopressin) are released directly to the peripheral circulation." []	62915	\N	\N	EFO	0	EFO	neuroendocrine cell	neuroendocrine cell
CL:0000163	\N	\N	"A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions." [MESH:A06.407]	CL:0000165	"Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. In this way they bring about and integration between the nervous system and the endocrine system, a process known as neuroendocrine integration. An example of a neuroendocrine cell is the cell of the adrenal medulla (innermost part of the adrenal gland) which releases adrenalin to the blood. The adrenal medullary cells are controlled by the sympathetic division of the autonomic nervous system. These cells are modified postganglionic neurons. Autonomic nerve fibers lead directly to them from the central nervous system. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood. Some of these these factors, release at the median eminence, control the secretion of pituitary hormones, while others (the hormones oxytocin and vasopressin) are released directly to the peripheral circulation." []	194074	\N	\N	EFO	0	EFO	endocrine cell	neuroendocrine cell
CL:0000393	\N	\N	"A cell whose function is determined by its response to an electric signal." [FB:ma]	CL:0000165	"Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. In this way they bring about and integration between the nervous system and the endocrine system, a process known as neuroendocrine integration. An example of a neuroendocrine cell is the cell of the adrenal medulla (innermost part of the adrenal gland) which releases adrenalin to the blood. The adrenal medullary cells are controlled by the sympathetic division of the autonomic nervous system. These cells are modified postganglionic neurons. Autonomic nerve fibers lead directly to them from the central nervous system. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood. Some of these these factors, release at the median eminence, control the secretion of pituitary hormones, while others (the hormones oxytocin and vasopressin) are released directly to the peripheral circulation." []	194075	\N	\N	EFO	0	EFO	electrically responsive cell	neuroendocrine cell
CL:0000710	\N	\N	"Epithelial cells derived from neural plate and neural crest." [GOC:tfm]	CL:0000165	"Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. In this way they bring about and integration between the nervous system and the endocrine system, a process known as neuroendocrine integration. An example of a neuroendocrine cell is the cell of the adrenal medulla (innermost part of the adrenal gland) which releases adrenalin to the blood. The adrenal medullary cells are controlled by the sympathetic division of the autonomic nervous system. These cells are modified postganglionic neurons. Autonomic nerve fibers lead directly to them from the central nervous system. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood. Some of these these factors, release at the median eminence, control the secretion of pituitary hormones, while others (the hormones oxytocin and vasopressin) are released directly to the peripheral circulation." []	194076	\N	\N	EFO	0	EFO	neurecto-epithelial cell	neuroendocrine cell
EFO:0000324	CL:0000165	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000165	"Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. In this way they bring about and integration between the nervous system and the endocrine system, a process known as neuroendocrine integration. An example of a neuroendocrine cell is the cell of the adrenal medulla (innermost part of the adrenal gland) which releases adrenalin to the blood. The adrenal medullary cells are controlled by the sympathetic division of the autonomic nervous system. These cells are modified postganglionic neurons. Autonomic nerve fibers lead directly to them from the central nervous system. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood. Some of these these factors, release at the median eminence, control the secretion of pituitary hormones, while others (the hormones oxytocin and vasopressin) are released directly to the peripheral circulation." []	202416	\N	\N	EFO	1	EFO	cell type	neuroendocrine cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000165	"Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. In this way they bring about and integration between the nervous system and the endocrine system, a process known as neuroendocrine integration. An example of a neuroendocrine cell is the cell of the adrenal medulla (innermost part of the adrenal gland) which releases adrenalin to the blood. The adrenal medullary cells are controlled by the sympathetic division of the autonomic nervous system. These cells are modified postganglionic neurons. Autonomic nerve fibers lead directly to them from the central nervous system. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood. Some of these these factors, release at the median eminence, control the secretion of pituitary hormones, while others (the hormones oxytocin and vasopressin) are released directly to the peripheral circulation." []	555317	\N	\N	EFO	2	EFO	material entity	neuroendocrine cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000165	"Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. In this way they bring about and integration between the nervous system and the endocrine system, a process known as neuroendocrine integration. An example of a neuroendocrine cell is the cell of the adrenal medulla (innermost part of the adrenal gland) which releases adrenalin to the blood. The adrenal medullary cells are controlled by the sympathetic division of the autonomic nervous system. These cells are modified postganglionic neurons. Autonomic nerve fibers lead directly to them from the central nervous system. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood. Some of these these factors, release at the median eminence, control the secretion of pituitary hormones, while others (the hormones oxytocin and vasopressin) are released directly to the peripheral circulation." []	1137990	\N	\N	EFO	3	EFO	experimental factor	neuroendocrine cell
CL:0000168	\N	\N	"A cell that composes the bulk of the islets of Langerhans and secretes insulin." []	CL:0000168	"A cell that composes the bulk of the islets of Langerhans and secretes insulin." []	62916	\N	\N	EFO	0	EFO	beta cell	beta cell
UBERON:0000016	\N	\N	"The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin[GO]." [GOC:GO, Wikipedia:Islets_of_Langerhans]	CL:0000168	"A cell that composes the bulk of the islets of Langerhans and secretes insulin." []	194077	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	EFO	0	EFO	endocrine pancreas	beta cell
CL:0000154	\N	\N	"" []	CL:0000168	"A cell that composes the bulk of the islets of Langerhans and secretes insulin." []	194078	\N	\N	EFO	0	EFO	protein secreting cell	beta cell
CL:0000167	\N	\N	"" []	CL:0000168	"A cell that composes the bulk of the islets of Langerhans and secretes insulin." []	194079	\N	\N	EFO	0	EFO	peptide hormone secreting cell	beta cell
CL:0000171	\N	\N	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	CL:0000171	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	62917	\N	\N	EFO	0	EFO	pancreatic A cell	pancreatic A cell
CL:0002067	\N	\N	"An enterocrine cell that produces glucagon." [GOC:tfm, ISBN:0412046911]	CL:0000171	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	194080	\N	\N	EFO	0	EFO	type A enterocrine cell	pancreatic A cell
CL:0008024	\N	\N	"An endocrine cell that is part of the pancreas." [GOC:dos]	CL:0000171	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	194081	\N	\N	EFO	0	EFO	pancreatic endocrine cell	pancreatic A cell
CL:0000066	CL:0000171	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0000171	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	202417	\N	\N	EFO	1	EFO	epithelial cell	pancreatic A cell
CL:0000083	CL:0000171	\N	"Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done." []	CL:0000171	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	202418	\N	\N	EFO	1	EFO	exocrine pancreas cell	pancreatic A cell
EFO:0002966	CL:0000171	\N	"" []	CL:0000171	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	202419	\N	\N	EFO	1	EFO	pancreatic cell	pancreatic A cell
EFO:0000324	CL:0000066	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000171	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	555318	\N	\N	EFO	2	EFO	cell type	pancreatic A cell
CL:0000066	CL:0000083	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0000171	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	555319	\N	\N	EFO	2	EFO	epithelial cell	pancreatic A cell
CL:0002371	CL:0000083	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000171	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	555320	\N	\N	EFO	2	EFO	somatic cell	pancreatic A cell
EFO:0000324	EFO:0002966	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000171	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	555321	\N	\N	EFO	2	EFO	cell type	pancreatic A cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000171	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	1137991	\N	\N	EFO	3	EFO	material entity	pancreatic A cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000171	"A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon." []	2021097	\N	\N	EFO	4	EFO	experimental factor	pancreatic A cell
CL:0000178	\N	\N	"A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis." []	CL:0000178	"A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis." []	62918	\N	\N	EFO	0	EFO	Leydig cell	Leydig cell
CL:0000177	\N	\N	"" []	CL:0000178	"A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis." []	194082	\N	\N	EFO	0	EFO	testosterone secreting cell	Leydig cell
EFO:0000324	CL:0000178	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000178	"A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis." []	202420	\N	\N	EFO	1	EFO	cell type	Leydig cell
UBERON:6007435	CL:0000178	\N	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	CL:0000178	"A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis." []	202421	\N	\N	EFO	1	EFO	endocrine system component	Leydig cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000178	"A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis." []	555322	\N	\N	EFO	2	EFO	material entity	Leydig cell
EFO:0000787	UBERON:6007435	\N	"" []	CL:0000178	"A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis." []	555323	\N	\N	EFO	2	EFO	animal component	Leydig cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000178	"A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis." []	4386577	\N	\N	EFO	6	EFO	experimental factor	Leydig cell
EFO:0000786	EFO:0000787	\N	"" []	CL:0000178	"A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis." []	1137993	\N	\N	EFO	3	EFO	anatomy basic component	Leydig cell
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CL:0000178	"A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis." []	2021098	\N	\N	EFO	4	EFO	organism part	Leydig cell
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000178	"A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis." []	3175800	\N	\N	EFO	5	EFO	material entity	Leydig cell
CL:0000182	\N	\N	"The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated." []	CL:0000182	"The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated." []	62919	\N	\N	EFO	0	EFO	hepatocyte	hepatocyte
CL:0000181	\N	\N	"A cell whose primary function is intermediary metabolism." [FB:ma]	CL:0000182	"The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated." []	194083	\N	\N	EFO	0	EFO	metabolising cell	hepatocyte
CL:0000417	\N	\N	"" []	CL:0000182	"The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated." []	194084	\N	\N	EFO	0	EFO	endopolyploid cell	hepatocyte
CL:0000066	CL:0000182	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0000182	"The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated." []	202422	\N	\N	EFO	1	EFO	epithelial cell	hepatocyte
CL:0002371	CL:0000182	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000182	"The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated." []	202423	\N	\N	EFO	1	EFO	somatic cell	hepatocyte
EFO:0000324	CL:0000182	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000182	"The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated." []	202424	\N	\N	EFO	1	EFO	cell type	hepatocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000182	"The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated." []	555324	\N	\N	EFO	2	EFO	material entity	hepatocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000182	"The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated." []	1137994	\N	\N	EFO	3	EFO	experimental factor	hepatocyte
CL:0000185	\N	\N	"Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. [ GOC:tfm ISBN:0721662544 ] " []	CL:0000185	"Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. [ GOC:tfm ISBN:0721662544 ] " []	62920	\N	\N	EFO	0	EFO	myoepithelial cell	myoepithelial cell
CL:0000075	\N	\N	"" []	CL:0000185	"Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. [ GOC:tfm ISBN:0721662544 ] " []	194085	\N	\N	EFO	0	EFO	columnar/cuboidal epithelial cell	myoepithelial cell
CL:0000183	\N	\N	"A cell whose primary function is to shorten." [FB:ma]	CL:0000185	"Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. [ GOC:tfm ISBN:0721662544 ] " []	194086	\N	\N	EFO	0	EFO	contractile cell	myoepithelial cell
CL:0002078	\N	\N	"Epithelial cell derived from mesoderm or mesenchyme." [FMA:69076, GOC:tfm]	CL:0000185	"Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. [ GOC:tfm ISBN:0721662544 ] " []	194087	\N	\N	EFO	0	EFO	meso-epithelial cell	myoepithelial cell
CL:0000066	CL:0000185	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0000185	"Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. [ GOC:tfm ISBN:0721662544 ] " []	202425	\N	\N	EFO	1	EFO	epithelial cell	myoepithelial cell
EFO:0000324	CL:0000066	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000185	"Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. [ GOC:tfm ISBN:0721662544 ] " []	555325	\N	\N	EFO	2	EFO	cell type	myoepithelial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000185	"Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. [ GOC:tfm ISBN:0721662544 ] " []	1137995	\N	\N	EFO	3	EFO	material entity	myoepithelial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000185	"Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. [ GOC:tfm ISBN:0721662544 ] " []	2021099	\N	\N	EFO	4	EFO	experimental factor	myoepithelial cell
CL:0000187	\N	\N	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	CL:0000187	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	62921	\N	\N	EFO	0	EFO	muscle cell	muscle cell
CL:0000183	\N	\N	"A cell whose primary function is to shorten." [FB:ma]	CL:0000187	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	194088	\N	\N	EFO	0	EFO	contractile cell	muscle cell
CL:0000393	\N	\N	"A cell whose function is determined by its response to an electric signal." [FB:ma]	CL:0000187	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	194089	\N	\N	EFO	0	EFO	electrically responsive cell	muscle cell
CL:0000548	\N	\N	"" []	CL:0000187	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	194090	\N	ubprop_upper_level	EFO	0	EFO	animal cell	muscle cell
CL:0002371	CL:0000187	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000187	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	202426	\N	\N	EFO	1	EFO	somatic cell	muscle cell
EFO:0002956	CL:0000187	\N	"" []	CL:0000187	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	202427	\N	\N	EFO	1	EFO	musculo-skeletal system cell	muscle cell
EFO:0000324	EFO:0002956	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000187	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	555326	\N	\N	EFO	2	EFO	cell type	muscle cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000187	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	1137996	\N	\N	EFO	3	EFO	material entity	muscle cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000187	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	2021100	\N	\N	EFO	4	EFO	experimental factor	muscle cell
CL:0000192	\N	\N	"Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH)." []	CL:0000192	"Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH)." []	62922	\N	\N	EFO	0	EFO	smooth muscle cell	smooth muscle cell
CL:0008000	\N	\N	"Any muscle cell in which the fibers are not organised into sarcomeres." [GOC:DOS]	CL:0000192	"Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH)." []	194091	\N	\N	EFO	0	EFO	non-striated muscle cell	smooth muscle cell
CL:0008007	\N	\N	"A muscle cell that is part of some visceral muscle" [GOC:dos]	CL:0000192	"Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH)." []	194092	\N	\N	EFO	0	EFO	visceral muscle cell	smooth muscle cell
CL:0000187	CL:0000192	\N	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	CL:0000192	"Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH)." []	202428	\N	\N	EFO	1	EFO	muscle cell	smooth muscle cell
EFO:0002956	CL:0000187	\N	"" []	CL:0000192	"Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH)." []	555327	\N	\N	EFO	2	EFO	musculo-skeletal system cell	smooth muscle cell
EFO:0000324	EFO:0002956	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000192	"Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH)." []	1137997	\N	\N	EFO	3	EFO	cell type	smooth muscle cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000192	"Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH)." []	2021101	\N	\N	EFO	4	EFO	material entity	smooth muscle cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000192	"Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH)." []	3175801	\N	\N	EFO	5	EFO	experimental factor	smooth muscle cell
CL:0000202	\N	\N	"A mechanoreceptor cell located in the organ of Corti that is sensitive to auditory stimuli and in the vestibular apparatus that is sensitive to movement of the head. In each case the accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system." []	CL:0000202	"A mechanoreceptor cell located in the organ of Corti that is sensitive to auditory stimuli and in the vestibular apparatus that is sensitive to movement of the head. In each case the accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system." []	62923	\N	\N	EFO	0	EFO	cochlear hair cell	cochlear hair cell
CL:0000006	\N	\N	"" []	CL:0000202	"A mechanoreceptor cell located in the organ of Corti that is sensitive to auditory stimuli and in the vestibular apparatus that is sensitive to movement of the head. In each case the accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system." []	194093	\N	\N	EFO	0	EFO	neuronal receptor cell	cochlear hair cell
CL:0000710	\N	\N	"Epithelial cells derived from neural plate and neural crest." [GOC:tfm]	CL:0000202	"A mechanoreceptor cell located in the organ of Corti that is sensitive to auditory stimuli and in the vestibular apparatus that is sensitive to movement of the head. In each case the accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system." []	194094	\N	\N	EFO	0	EFO	neurecto-epithelial cell	cochlear hair cell
CL:0002374	\N	\N	"A hair cell of the ear that contains the organs of balance and hearing." [GOC:dph, GOC:tfm, ISBN:0192801023]	CL:0000202	"A mechanoreceptor cell located in the organ of Corti that is sensitive to auditory stimuli and in the vestibular apparatus that is sensitive to movement of the head. In each case the accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system." []	194095	\N	\N	EFO	0	EFO	ear hair cell	cochlear hair cell
CL:0002491	\N	\N	"A specialized cell involved in auditory sensory perception." [GOC:tfm]	CL:0000202	"A mechanoreceptor cell located in the organ of Corti that is sensitive to auditory stimuli and in the vestibular apparatus that is sensitive to movement of the head. In each case the accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system." []	194096	\N	\N	EFO	0	EFO	auditory epithelial cell	cochlear hair cell
EFO:0000324	CL:0000202	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000202	"A mechanoreceptor cell located in the organ of Corti that is sensitive to auditory stimuli and in the vestibular apparatus that is sensitive to movement of the head. In each case the accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system." []	202429	\N	\N	EFO	1	EFO	cell type	cochlear hair cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000202	"A mechanoreceptor cell located in the organ of Corti that is sensitive to auditory stimuli and in the vestibular apparatus that is sensitive to movement of the head. In each case the accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system." []	555328	\N	\N	EFO	2	EFO	material entity	cochlear hair cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000202	"A mechanoreceptor cell located in the organ of Corti that is sensitive to auditory stimuli and in the vestibular apparatus that is sensitive to movement of the head. In each case the accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system." []	1137998	\N	\N	EFO	3	EFO	experimental factor	cochlear hair cell
CL:0000216	\N	\N	"A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." []	CL:0000216	"A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." []	62925	\N	\N	EFO	0	EFO	Sertoli cell	Sertoli cell
CL:0000511	\N	\N	"A peptide hormone secreting cell that secretes androgen binding protein." [GO:tfm]	CL:0000216	"A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." []	194099	\N	\N	EFO	0	EFO	androgen binding protein secreting cell	Sertoli cell
CL:0000630	\N	\N	"A cell whose primary function is to support other cell types." [FB:ma, GOC:tfm]	CL:0000216	"A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." []	194100	\N	\N	EFO	0	EFO	supportive cell	Sertoli cell
CL:0002625	\N	\N	"A cell of the seminiferous tubule epithelium." [GOC:tfm]	CL:0000216	"A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." []	194101	\N	\N	EFO	0	EFO	seminiferous tubule epithelial cell	Sertoli cell
CL:0000151	CL:0000216	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000216	"A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." []	202430	\N	\N	EFO	1	EFO	secretory cell	Sertoli cell
EFO:0002962	CL:0000216	\N	"" []	CL:0000216	"A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." []	202431	\N	\N	EFO	1	EFO	animal reproductive system cell	Sertoli cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000216	"A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." []	555329	\N	\N	EFO	2	EFO	cell type	Sertoli cell
EFO:0002955	EFO:0002962	\N	"" []	CL:0000216	"A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." []	555330	\N	\N	EFO	2	EFO	reproductive system cell	Sertoli cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000216	"A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." []	2021103	\N	\N	EFO	4	EFO	material entity	Sertoli cell
EFO:0000324	EFO:0002955	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000216	"A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." []	1138000	\N	\N	EFO	3	EFO	cell type	Sertoli cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000216	"A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." []	2999168	\N	\N	EFO	5	EFO	experimental factor	Sertoli cell
CL:0000218	\N	\N	"A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons." []	CL:0000218	"A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons." []	62926	\N	\N	EFO	0	EFO	Schwann cell	Schwann cell
CL:0000217	\N	\N	"" []	CL:0000218	"A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons." []	194102	\N	\N	EFO	0	EFO	insulating cell	Schwann cell
CL:0000328	\N	\N	"" []	CL:0000218	"A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons." []	194103	\N	\N	EFO	0	EFO	myelin accumulating cell	Schwann cell
CL:0002573	\N	\N	"A glial cell that ensheathes axons of neuron in the peripheral nervous system and are necessary for their maintainance and function." [GOC:tfm]	CL:0000218	"A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons." []	194104	\N	\N	EFO	0	EFO	Schwann cell	Schwann cell
EFO:0002963	CL:0000218	\N	"" []	CL:0000218	"A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons." []	202432	\N	\N	EFO	1	EFO	nervous system cell	Schwann cell
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000218	"A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons." []	555331	\N	\N	EFO	2	EFO	cell type	Schwann cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000218	"A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons." []	1138001	\N	\N	EFO	3	EFO	material entity	Schwann cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000218	"A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons." []	2021104	\N	\N	EFO	4	EFO	experimental factor	Schwann cell
CL:0000222	\N	\N	"A cell of the middle germ layer of the embryo." []	CL:0000222	"A cell of the middle germ layer of the embryo." []	62927	\N	\N	EFO	0	EFO	mesodermal cell	mesodermal cell
CL:0002321	CL:0000222	\N	"A cell of the embryo." []	CL:0000222	"A cell of the middle germ layer of the embryo." []	202433	\N	\N	EFO	1	EFO	embryonic cell	mesodermal cell
CL:0002321	CL:0000222	\N	"A cell of the embryo." []	CL:0000222	"A cell of the middle germ layer of the embryo." []	202434	\N	\N	EFO	1	EFO	embryonic cell	mesodermal cell
EFO:0000324	CL:0002321	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000222	"A cell of the middle germ layer of the embryo." []	555332	\N	\N	EFO	2	EFO	cell type	mesodermal cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000222	"A cell of the middle germ layer of the embryo." []	1138002	\N	\N	EFO	3	EFO	material entity	mesodermal cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000222	"A cell of the middle germ layer of the embryo." []	2021105	\N	\N	EFO	4	EFO	experimental factor	mesodermal cell
CL:0000232	\N	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	62928	\N	\N	EFO	0	EFO	erythrocyte	erythrocyte
CL:0000329	\N	\N	"" []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	194105	\N	\N	EFO	0	EFO	oxygen accumulating cell	erythrocyte
CL:0000081	CL:0000232	\N	"A cell found predominately in the blood." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	202435	\N	\N	EFO	1	EFO	blood cell	erythrocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	202436	\N	\N	EFO	1	EFO	erythroid lineage cell	erythrocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	202437	\N	\N	EFO	1	EFO	erythroid lineage cell	erythrocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	555333	\N	\N	EFO	2	EFO	hematopoietic cell	erythrocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	555334	\N	\N	EFO	2	EFO	myeloid cell	erythrocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	555335	\N	\N	EFO	2	EFO	myeloid cell	erythrocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	2021107	\N	\N	EFO	4	EFO	somatic cell	erythrocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	1138004	\N	\N	EFO	3	EFO	hematopoietic cell	erythrocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	1138005	\N	\N	EFO	3	EFO	hematopoietic cell	erythrocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	2021106	\N	\N	EFO	4	EFO	cell type	erythrocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	3175802	\N	\N	EFO	5	EFO	material entity	erythrocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000232	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	4386578	\N	\N	EFO	6	EFO	experimental factor	erythrocyte
CL:0000233	\N	\N	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	62929	\N	\N	EFO	0	EFO	platelet	platelet
CL:0000225	\N	\N	"A cell that lacks a nucleus." [FB:ma]	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	194106	\N	\N	EFO	0	EFO	anucleate cell	platelet
CL:0000458	\N	\N	"A cell type that secretes 5-Hydroxytryptamine (serotonin)." [GOC:tfm, PMID:19630576]	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	194107	\N	\N	EFO	0	EFO	serotonin secreting cell	platelet
CL:0000081	CL:0000233	\N	"A cell found predominately in the blood." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	202438	\N	\N	EFO	1	EFO	blood cell	platelet
CL:0000763	CL:0000233	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	202439	\N	\N	EFO	1	EFO	myeloid cell	platelet
CL:0000763	CL:0000233	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	202440	\N	\N	EFO	1	EFO	myeloid cell	platelet
EFO:0002534	CL:0000233	\N	"" []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	202441	\N	\N	EFO	1	EFO	fetal blood cell	platelet
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	555336	\N	\N	EFO	2	EFO	hematopoietic cell	platelet
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	555337	\N	\N	EFO	2	EFO	hematopoietic cell	platelet
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	555338	\N	\N	EFO	2	EFO	hematopoietic cell	platelet
CL:0000081	EFO:0002534	\N	"A cell found predominately in the blood." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	555339	\N	\N	EFO	2	EFO	blood cell	platelet
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	1138006	\N	\N	EFO	3	EFO	somatic cell	platelet
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	2021109	\N	\N	EFO	4	EFO	cell type	platelet
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	1138008	\N	\N	EFO	3	EFO	hematopoietic cell	platelet
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	2999169	\N	\N	EFO	5	EFO	material entity	platelet
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000233	"A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." []	4132409	\N	\N	EFO	6	EFO	experimental factor	platelet
CL:0000235	\N	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	62930	\N	\N	EFO	0	EFO	macrophage	macrophage
CL:0000234	\N	\N	"Any cell capable of ingesting particulate matter via phagocytosis." [GOC:add, ISBN:0721601464]	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	194108	\N	\N	EFO	0	EFO	phagocyte	macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	202442	\N	\N	EFO	1	EFO	myeloid leukocyte	macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	202443	\N	\N	EFO	1	EFO	myeloid leukocyte	macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	555340	\N	\N	EFO	2	EFO	leukocyte	macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	555341	\N	\N	EFO	2	EFO	leukocyte	macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	555342	\N	\N	EFO	2	EFO	myeloid cell	macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	1138009	\N	\N	EFO	3	EFO	hematopoietic cell	macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	1138010	\N	\N	EFO	3	EFO	hematopoietic cell	macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	1138011	\N	\N	EFO	3	EFO	hematopoietic cell	macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	2021110	\N	\N	EFO	4	EFO	cell type	macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	2021111	\N	\N	EFO	4	EFO	somatic cell	macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	3175804	\N	\N	EFO	5	EFO	material entity	macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000235	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	4386579	\N	\N	EFO	6	EFO	experimental factor	macrophage
CL:0000236	\N	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	62931	\N	\N	EFO	0	EFO	B cell	B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	202444	\N	\N	EFO	1	EFO	lymphocyte of B lineage	B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	202445	\N	\N	EFO	1	EFO	lymphocyte of B lineage	B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	555343	\N	\N	EFO	2	EFO	lymphocyte	B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	555344	\N	\N	EFO	2	EFO	lymphocyte	B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	1138012	\N	\N	EFO	3	EFO	leukocyte	B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	1138013	\N	\N	EFO	3	EFO	nongranular leukocyte	B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	2021112	\N	\N	EFO	4	EFO	hematopoietic cell	B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	2021113	\N	\N	EFO	4	EFO	leukocyte	B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	3175805	\N	\N	EFO	5	EFO	cell type	B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	3175806	\N	\N	EFO	5	EFO	hematopoietic cell	B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	4386580	\N	\N	EFO	6	EFO	material entity	B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	4386581	\N	\N	EFO	6	EFO	somatic cell	B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000236	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	5407771	\N	\N	EFO	7	EFO	experimental factor	B cell
CL:0000250	\N	\N	"A haploid (1n) spore developing into a female gametophyte in heterosporous plants." []	CL:0000250	"A haploid (1n) spore developing into a female gametophyte in heterosporous plants." []	62932	\N	\N	EFO	0	EFO	megaspore	megaspore
EFO:0000988	CL:0000250	\N	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	CL:0000250	"A haploid (1n) spore developing into a female gametophyte in heterosporous plants." []	202446	\N	\N	EFO	1	EFO	gametophyte	megaspore
EFO:0000789	EFO:0000988	\N	"" []	CL:0000250	"A haploid (1n) spore developing into a female gametophyte in heterosporous plants." []	555345	\N	\N	EFO	2	EFO	plant component	megaspore
PO:0025131	EFO:0000988	\N	"An anatomical entity that is or was part of a plant." []	CL:0000250	"A haploid (1n) spore developing into a female gametophyte in heterosporous plants." []	555346	\N	\N	EFO	2	EFO	plant anatomical entity	megaspore
EFO:0000786	EFO:0000789	\N	"" []	CL:0000250	"A haploid (1n) spore developing into a female gametophyte in heterosporous plants." []	1138014	\N	\N	EFO	3	EFO	anatomy basic component	megaspore
EFO:0000786	PO:0025131	\N	"" []	CL:0000250	"A haploid (1n) spore developing into a female gametophyte in heterosporous plants." []	1138015	\N	\N	EFO	3	EFO	anatomy basic component	megaspore
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CL:0000250	"A haploid (1n) spore developing into a female gametophyte in heterosporous plants." []	2021114	\N	\N	EFO	4	EFO	organism part	megaspore
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000250	"A haploid (1n) spore developing into a female gametophyte in heterosporous plants." []	3175807	\N	\N	EFO	5	EFO	material entity	megaspore
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000250	"A haploid (1n) spore developing into a female gametophyte in heterosporous plants." []	4386582	\N	\N	EFO	6	EFO	experimental factor	megaspore
CL:0000252	\N	\N	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	CL:0000252	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	62933	\N	\N	EFO	0	EFO	microspore	microspore
EFO:0000988	CL:0000252	\N	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	CL:0000252	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	202447	\N	\N	EFO	1	EFO	gametophyte	microspore
EFO:0000998	CL:0000252	\N	"" []	CL:0000252	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	202448	\N	\N	EFO	1	EFO	plant reproductive system structure	microspore
EFO:0000789	EFO:0000988	\N	"" []	CL:0000252	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	555347	\N	\N	EFO	2	EFO	plant component	microspore
PO:0025131	EFO:0000988	\N	"An anatomical entity that is or was part of a plant." []	CL:0000252	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	555348	\N	\N	EFO	2	EFO	plant anatomical entity	microspore
EFO:0000789	EFO:0000998	\N	"" []	CL:0000252	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	555349	\N	\N	EFO	2	EFO	plant component	microspore
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	CL:0000252	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	555350	\N	\N	EFO	2	EFO	plant anatomical entity	microspore
EFO:0000786	EFO:0000789	\N	"" []	CL:0000252	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	1138016	\N	\N	EFO	3	EFO	anatomy basic component	microspore
EFO:0000786	PO:0025131	\N	"" []	CL:0000252	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	1138017	\N	\N	EFO	3	EFO	anatomy basic component	microspore
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CL:0000252	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	2021115	\N	\N	EFO	4	EFO	organism part	microspore
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000252	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	3175808	\N	\N	EFO	5	EFO	material entity	microspore
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000252	"The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity." []	4386583	\N	\N	EFO	6	EFO	experimental factor	microspore
CL:0000292	\N	\N	"One of a pair of cells flanking the stomatal pore and causing the opening and closing of the pore by changes in turgor." []	CL:0000292	"One of a pair of cells flanking the stomatal pore and causing the opening and closing of the pore by changes in turgor." []	62935	\N	\N	EFO	0	EFO	guard cell	guard cell
EFO:0000324	CL:0000292	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000292	"One of a pair of cells flanking the stomatal pore and causing the opening and closing of the pore by changes in turgor." []	202449	\N	\N	EFO	1	EFO	cell type	guard cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000292	"One of a pair of cells flanking the stomatal pore and causing the opening and closing of the pore by changes in turgor." []	555351	\N	\N	EFO	2	EFO	material entity	guard cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000292	"One of a pair of cells flanking the stomatal pore and causing the opening and closing of the pore by changes in turgor." []	1138018	\N	\N	EFO	3	EFO	experimental factor	guard cell
CL:0000312	\N	\N	"Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis." []	CL:0000312	"Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis." []	62936	\N	\N	EFO	0	EFO	keratinocyte	keratinocyte
CL:0000237	\N	\N	"" []	CL:0000312	"Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis." []	194110	\N	\N	EFO	0	EFO	keratinizing barrier epithelial cell	keratinocyte
CL:0000362	CL:0000312	\N	"An epithelial cell of the integument (the outer layer of an organism)." []	CL:0000312	"Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis." []	202450	\N	\N	EFO	1	EFO	epidermal cell	keratinocyte
CL:0000362	CL:0000312	\N	"An epithelial cell of the integument (the outer layer of an organism)." []	CL:0000312	"Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis." []	202451	\N	\N	EFO	1	EFO	epidermal cell	keratinocyte
CL:0000066	CL:0000362	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0000312	"Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis." []	555352	\N	\N	EFO	2	EFO	epithelial cell	keratinocyte
EFO:0000324	CL:0000066	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000312	"Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis." []	1138019	\N	\N	EFO	3	EFO	cell type	keratinocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000312	"Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis." []	2021116	\N	\N	EFO	4	EFO	material entity	keratinocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000312	"Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis." []	3175809	\N	\N	EFO	5	EFO	experimental factor	keratinocyte
CL:0000333	\N	\N	"A cell of the strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells." []	CL:0000333	"A cell of the strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells." []	62937	\N	\N	EFO	0	EFO	neural crest cell	neural crest cell
CL:0000219	\N	\N	"A cell that moves by its own activities." [FB:ma]	CL:0000333	"A cell of the strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells." []	194111	\N	\N	EFO	0	EFO	motile cell	neural crest cell
CL:0011012	\N	\N	"A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells." [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-9900-7880]	CL:0000333	"A cell of the strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells." []	194112	\N	\N	EFO	0	EFO	neural crest cell	neural crest cell
CL:0002321	CL:0000333	\N	"A cell of the embryo." []	CL:0000333	"A cell of the strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells." []	202452	\N	\N	EFO	1	EFO	embryonic cell	neural crest cell
EFO:0000324	CL:0002321	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000333	"A cell of the strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells." []	555353	\N	\N	EFO	2	EFO	cell type	neural crest cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000333	"A cell of the strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells." []	1138020	\N	\N	EFO	3	EFO	material entity	neural crest cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000333	"A cell of the strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells." []	2021117	\N	\N	EFO	4	EFO	experimental factor	neural crest cell
CL:0000336	\N	\N	"Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine." []	CL:0000336	"Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine." []	62938	\N	\N	EFO	0	EFO	adrenal gland	adrenal gland
UBERON:0002530	\N	\N	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	CL:0000336	"Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine." []	194113	\N	efo_slim,uberon_slim	EFO	0	EFO	gland	adrenal gland
CL:0000457	\N	\N	"" []	CL:0000336	"Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine." []	194114	\N	\N	EFO	0	EFO	biogenic amine secreting cell	adrenal gland
CL:1000426	\N	\N	"A chromaffin cell that is part of the adrenal gland." [GOC:tfm]	CL:0000336	"Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine." []	194115	\N	\N	EFO	0	EFO	chromaffin cell of adrenal gland	adrenal gland
CL:0000337	\N	\N	"An embryonic cell that develops into a nerve cell or neuron." []	CL:0000337	"An embryonic cell that develops into a nerve cell or neuron." []	62939	\N	\N	EFO	0	EFO	neuroblast (sensu Vertebrata)	neuroblast (sensu Vertebrata)
CL:0000031	\N	\N	"A cell that will develop into a neuron often after a migration phase." [GOC:NV, http://en.wikipedia.org/wiki/Neuroblast]	CL:0000337	"An embryonic cell that develops into a nerve cell or neuron." []	194116	\N	\N	EFO	0	EFO	neuroblast	neuroblast (sensu Vertebrata)
CL:0000047	CL:0000337	\N	"Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has  the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors." []	CL:0000337	"An embryonic cell that develops into a nerve cell or neuron." []	202453	\N	\N	EFO	1	EFO	neuronal stem cell	neuroblast (sensu Vertebrata)
CL:0000034	CL:0000047	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0000337	"An embryonic cell that develops into a nerve cell or neuron." []	555354	\N	\N	EFO	2	EFO	stem cell	neuroblast (sensu Vertebrata)
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000337	"An embryonic cell that develops into a nerve cell or neuron." []	1138021	\N	\N	EFO	3	EFO	cell type	neuroblast (sensu Vertebrata)
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000337	"An embryonic cell that develops into a nerve cell or neuron." []	2021118	\N	\N	EFO	4	EFO	material entity	neuroblast (sensu Vertebrata)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000337	"An embryonic cell that develops into a nerve cell or neuron." []	3175810	\N	\N	EFO	5	EFO	experimental factor	neuroblast (sensu Vertebrata)
CL:0000346	\N	\N	"A specialized mesenchymal cell that resides in the dermal papilla located at the bottom of hair follicles. This cell plays a pivotal roles in hair formation, growth, and cycling." []	CL:0000346	"A specialized mesenchymal cell that resides in the dermal papilla located at the bottom of hair follicles. This cell plays a pivotal roles in hair formation, growth, and cycling." []	62940	\N	\N	EFO	0	EFO	hair follicle dermal papilla cell	hair follicle dermal papilla cell
CL:0000134	\N	\N	"A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. This cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs." [FB:ma, GOC:dsd, http://en.wikipedia.org/wiki/Mesenchymal_stem_cell, http://www.copewithcytokines.de/cope.cgi?key=mesenchymal%20stem%20cells, PMCID:PMC2613570, PMID:10102814j, PMID:16923606, PMID:17986482, PMID:19960544]	CL:0000346	"A specialized mesenchymal cell that resides in the dermal papilla located at the bottom of hair follicles. This cell plays a pivotal roles in hair formation, growth, and cycling." []	194117	\N	\N	EFO	0	EFO	mesenchymal stem cell	hair follicle dermal papilla cell
EFO:0000324	CL:0000346	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000346	"A specialized mesenchymal cell that resides in the dermal papilla located at the bottom of hair follicles. This cell plays a pivotal roles in hair formation, growth, and cycling." []	202454	\N	\N	EFO	1	EFO	cell type	hair follicle dermal papilla cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000346	"A specialized mesenchymal cell that resides in the dermal papilla located at the bottom of hair follicles. This cell plays a pivotal roles in hair formation, growth, and cycling." []	555355	\N	\N	EFO	2	EFO	material entity	hair follicle dermal papilla cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000346	"A specialized mesenchymal cell that resides in the dermal papilla located at the bottom of hair follicles. This cell plays a pivotal roles in hair formation, growth, and cycling." []	1138022	\N	\N	EFO	3	EFO	experimental factor	hair follicle dermal papilla cell
CL:0000349	\N	\N	"A cell which is part of an extraembryonic structure associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis." []	CL:0000349	"A cell which is part of an extraembryonic structure associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis." []	62941	\N	\N	EFO	0	EFO	extraembryonic cell	extraembryonic cell
CL:0000548	\N	\N	"" []	CL:0000349	"A cell which is part of an extraembryonic structure associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis." []	194118	\N	ubprop_upper_level	EFO	0	EFO	animal cell	extraembryonic cell
CL:0002371	CL:0000349	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000349	"A cell which is part of an extraembryonic structure associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis." []	202455	\N	\N	EFO	1	EFO	somatic cell	extraembryonic cell
EFO:0000324	CL:0000349	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000349	"A cell which is part of an extraembryonic structure associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis." []	202456	\N	\N	EFO	1	EFO	cell type	extraembryonic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000349	"A cell which is part of an extraembryonic structure associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis." []	555356	\N	\N	EFO	2	EFO	material entity	extraembryonic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000349	"A cell which is part of an extraembryonic structure associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis." []	1138023	\N	\N	EFO	3	EFO	experimental factor	extraembryonic cell
CL:0000351	\N	\N	"A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." []	CL:0000351	"A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." []	62942	\N	\N	EFO	0	EFO	trophoblast cell	trophoblast cell
CL:0000349	CL:0000351	\N	"A cell which is part of an extraembryonic structure associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis." []	CL:0000351	"A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." []	202457	\N	\N	EFO	1	EFO	extraembryonic cell	trophoblast cell
CL:0000349	CL:0000351	\N	"A cell which is part of an extraembryonic structure associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis." []	CL:0000351	"A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." []	202458	\N	\N	EFO	1	EFO	extraembryonic cell	trophoblast cell
EFO:0000324	CL:0000349	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000351	"A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." []	555357	\N	\N	EFO	2	EFO	cell type	trophoblast cell
CL:0002371	CL:0000349	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000351	"A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." []	555358	\N	\N	EFO	2	EFO	somatic cell	trophoblast cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000351	"A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." []	1138024	\N	\N	EFO	3	EFO	material entity	trophoblast cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000351	"A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." []	2021119	\N	\N	EFO	4	EFO	experimental factor	trophoblast cell
CL:0000352	\N	\N	"A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation." []	CL:0000352	"A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation." []	62943	\N	\N	EFO	0	EFO	epiblast cell	epiblast cell
CL:0000052	\N	\N	"A stem cell from which all cells of the body can form." [GOC:add, GOC:tfm]	CL:0000352	"A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation." []	194119	\N	\N	EFO	0	EFO	totipotent stem cell	epiblast cell
CL:0002322	CL:0000352	\N	"Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals." []	CL:0000352	"A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation." []	202459	\N	\N	EFO	1	EFO	embryonic stem cell	epiblast cell
CL:0000034	CL:0002322	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0000352	"A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation." []	555359	\N	\N	EFO	2	EFO	stem cell	epiblast cell
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000352	"A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation." []	1138025	\N	\N	EFO	3	EFO	cell type	epiblast cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000352	"A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation." []	2021120	\N	\N	EFO	4	EFO	material entity	epiblast cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000352	"A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation." []	3175811	\N	\N	EFO	5	EFO	experimental factor	epiblast cell
CL:0000362	\N	\N	"An epithelial cell of the integument (the outer layer of an organism)." []	CL:0000362	"An epithelial cell of the integument (the outer layer of an organism)." []	62944	\N	\N	EFO	0	EFO	epidermal cell	epidermal cell
CL:0002159	\N	\N	"Epithelial cells derived from general body ectoderm and ectoderm placodes." [GOC:tfm]	CL:0000362	"An epithelial cell of the integument (the outer layer of an organism)." []	194120	\N	\N	EFO	0	EFO	general ecto-epithelial cell	epidermal cell
CL:0000066	CL:0000362	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0000362	"An epithelial cell of the integument (the outer layer of an organism)." []	202460	\N	\N	EFO	1	EFO	epithelial cell	epidermal cell
EFO:0000324	CL:0000066	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000362	"An epithelial cell of the integument (the outer layer of an organism)." []	555360	\N	\N	EFO	2	EFO	cell type	epidermal cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000362	"An epithelial cell of the integument (the outer layer of an organism)." []	1138026	\N	\N	EFO	3	EFO	material entity	epidermal cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000362	"An epithelial cell of the integument (the outer layer of an organism)." []	2021121	\N	\N	EFO	4	EFO	experimental factor	epidermal cell
CL:0000365	\N	\N	"The stage at which a diploid cell is produced by the fusion of sperm cell nucleus and egg cell." []	CL:0000365	"The stage at which a diploid cell is produced by the fusion of sperm cell nucleus and egg cell." []	62945	\N	\N	EFO	0	EFO	zygote	zygote
CL:0000007	CL:0000365	\N	"A cell found in the embryo before the formation of all the gem layers is complete." []	CL:0000365	"The stage at which a diploid cell is produced by the fusion of sperm cell nucleus and egg cell." []	202461	\N	\N	EFO	1	EFO	early embryonic cell	zygote
EFO:0000399	CL:0000365	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	CL:0000365	"The stage at which a diploid cell is produced by the fusion of sperm cell nucleus and egg cell." []	202462	\N	\N	EFO	1	EFO	developmental stage	zygote
CL:0002321	CL:0000007	\N	"A cell of the embryo." []	CL:0000365	"The stage at which a diploid cell is produced by the fusion of sperm cell nucleus and egg cell." []	555361	\N	\N	EFO	2	EFO	embryonic cell	zygote
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	CL:0000365	"The stage at which a diploid cell is produced by the fusion of sperm cell nucleus and egg cell." []	555362	\N	\N	EFO	2	EFO	process	zygote
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000365	"The stage at which a diploid cell is produced by the fusion of sperm cell nucleus and egg cell." []	1138027	\N	\N	EFO	3	EFO	experimental factor	zygote
CL:0000371	\N	\N	"The cell protoplasm after removal of the cell wall." []	CL:0000371	"The cell protoplasm after removal of the cell wall." []	62946	\N	\N	EFO	0	EFO	protoplast	protoplast
CL:0000578	\N	\N	"A cell in vitro that has undergone physical changes as a consequence of a deliberate and specific experimental procedure." [FB:ma, ReO:mhb]	CL:0000371	"The cell protoplasm after removal of the cell wall." []	194121	\N	\N	EFO	0	EFO	experimentally modified cell in vitro	protoplast
EFO:0002958	CL:0000371	\N	"experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes." []	CL:0000371	"The cell protoplasm after removal of the cell wall." []	202463	\N	\N	EFO	1	EFO	experimental cell	protoplast
EFO:0000324	EFO:0002958	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000371	"The cell protoplasm after removal of the cell wall." []	555363	\N	\N	EFO	2	EFO	cell type	protoplast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000371	"The cell protoplasm after removal of the cell wall." []	1138028	\N	\N	EFO	3	EFO	material entity	protoplast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000371	"The cell protoplasm after removal of the cell wall." []	2021122	\N	\N	EFO	4	EFO	experimental factor	protoplast
CL:0000384	\N	\N	"" []	CL:0000384	"" []	62947	\N	\N	EFO	0	EFO	ligament cell	ligament cell
CL:0000630	\N	\N	"A cell whose primary function is to support other cell types." [FB:ma, GOC:tfm]	CL:0000384	"" []	194122	\N	\N	EFO	0	EFO	supportive cell	ligament cell
EFO:0000324	CL:0000384	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000384	"" []	202464	\N	\N	EFO	1	EFO	cell type	ligament cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000384	"" []	555364	\N	\N	EFO	2	EFO	material entity	ligament cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000384	"" []	1138029	\N	\N	EFO	3	EFO	experimental factor	ligament cell
CL:0000385	\N	\N	"" []	CL:0000385	"" []	62948	\N	\N	EFO	0	EFO	prohemocyte (sensu Nematoda and Protostomia)	prohemocyte (sensu Nematoda and Protostomia)
CL:0000390	CL:0000385	\N	"" []	CL:0000385	"" []	202465	\N	\N	EFO	1	EFO	blood cell (sensu Nematoda and Protostomia)	prohemocyte (sensu Nematoda and Protostomia)
CL:0000390	CL:0000385	\N	"" []	CL:0000385	"" []	202466	\N	\N	EFO	1	EFO	blood cell (sensu Nematoda and Protostomia)	prohemocyte (sensu Nematoda and Protostomia)
CL:0000081	CL:0000390	\N	"A cell found predominately in the blood." []	CL:0000385	"" []	555365	\N	\N	EFO	2	EFO	blood cell	prohemocyte (sensu Nematoda and Protostomia)
CL:0000081	CL:0000390	\N	"A cell found predominately in the blood." []	CL:0000385	"" []	555366	\N	\N	EFO	2	EFO	blood cell	prohemocyte (sensu Nematoda and Protostomia)
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000385	"" []	1138030	\N	\N	EFO	3	EFO	hematopoietic cell	prohemocyte (sensu Nematoda and Protostomia)
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000385	"" []	1138031	\N	\N	EFO	3	EFO	hematopoietic cell	prohemocyte (sensu Nematoda and Protostomia)
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000385	"" []	2021123	\N	\N	EFO	4	EFO	cell type	prohemocyte (sensu Nematoda and Protostomia)
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000385	"" []	2021124	\N	\N	EFO	4	EFO	somatic cell	prohemocyte (sensu Nematoda and Protostomia)
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000385	"" []	3175812	\N	\N	EFO	5	EFO	material entity	prohemocyte (sensu Nematoda and Protostomia)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000385	"" []	4386584	\N	\N	EFO	6	EFO	experimental factor	prohemocyte (sensu Nematoda and Protostomia)
CL:0000387	\N	\N	"A blood cell especially of an invertebrate animal." []	CL:0000387	"A blood cell especially of an invertebrate animal." []	62949	\N	\N	EFO	0	EFO	hemocyte	hemocyte
CL:0000519	\N	\N	"A phagocyte from organisms in the Nematoda or Protostomia clades." [GOC:tfm]	CL:0000387	"A blood cell especially of an invertebrate animal." []	194123	\N	\N	EFO	0	EFO	phagocyte (sensu Nematoda and Protostomia)	hemocyte
CL:0000988	CL:0000387	\N	"A cell of a hematopoietic lineage." []	CL:0000387	"A blood cell especially of an invertebrate animal." []	202467	\N	\N	EFO	1	EFO	hematopoietic cell	hemocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000387	"A blood cell especially of an invertebrate animal." []	555367	\N	\N	EFO	2	EFO	cell type	hemocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000387	"A blood cell especially of an invertebrate animal." []	1138032	\N	\N	EFO	3	EFO	material entity	hemocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000387	"A blood cell especially of an invertebrate animal." []	2021125	\N	\N	EFO	4	EFO	experimental factor	hemocyte
CL:0000388	\N	\N	"Tissue which consists of fibroblasts, osteocytes or chondrocytes and intercellular matrix produced by these cells. Examples: bone (tissue), dense regular elastic tissue, areolar tissue, neuroglia, adipose tissue." []	CL:0000388	"Tissue which consists of fibroblasts, osteocytes or chondrocytes and intercellular matrix produced by these cells. Examples: bone (tissue), dense regular elastic tissue, areolar tissue, neuroglia, adipose tissue." []	62950	\N	\N	EFO	0	EFO	connective tissue	connective tissue
CL:0000135	\N	\N	"An inactive fibroblast; cytoplasm is sparse, endoplasmic reticulum is scanty with flattened nucleus. Term used by some histologists; when fibroblasts become relatively inactive in fiber formation. However, this cell has the potential for fibrogenesis in quiescent connective tissue of the adult, as well as during development, other histologists prefer to use the term fibroblast in all circumstances. These cells represent ~0.5% of peripheral blood leukocytes." [GOC:dsd, GOC:tfm, http://en.wikipedia.org/wiki/Fibrocyte, ISBN:0412046911, ISBN:0517223651, PMID:11641248, PMID:15010326, PMID:17607298, PMID:18222966, PMID:8790603, PMID:9551999]	CL:0000388	"Tissue which consists of fibroblasts, osteocytes or chondrocytes and intercellular matrix produced by these cells. Examples: bone (tissue), dense regular elastic tissue, areolar tissue, neuroglia, adipose tissue." []	194124	\N	\N	EFO	0	EFO	fibrocyte	connective tissue
CL:0000386	\N	\N	"" []	CL:0000388	"Tissue which consists of fibroblasts, osteocytes or chondrocytes and intercellular matrix produced by these cells. Examples: bone (tissue), dense regular elastic tissue, areolar tissue, neuroglia, adipose tissue." []	194125	\N	\N	EFO	0	EFO	attachment cell	connective tissue
EFO:0003858	CL:0000388	\N	"" []	CL:0000388	"Tissue which consists of fibroblasts, osteocytes or chondrocytes and intercellular matrix produced by these cells. Examples: bone (tissue), dense regular elastic tissue, areolar tissue, neuroglia, adipose tissue." []	202468	\N	\N	EFO	1	EFO	skeleton structure	connective tissue
EFO:0000787	EFO:0003858	\N	"" []	CL:0000388	"Tissue which consists of fibroblasts, osteocytes or chondrocytes and intercellular matrix produced by these cells. Examples: bone (tissue), dense regular elastic tissue, areolar tissue, neuroglia, adipose tissue." []	555368	\N	\N	EFO	2	EFO	animal component	connective tissue
EFO:0000786	EFO:0000787	\N	"" []	CL:0000388	"Tissue which consists of fibroblasts, osteocytes or chondrocytes and intercellular matrix produced by these cells. Examples: bone (tissue), dense regular elastic tissue, areolar tissue, neuroglia, adipose tissue." []	1138033	\N	\N	EFO	3	EFO	anatomy basic component	connective tissue
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CL:0000388	"Tissue which consists of fibroblasts, osteocytes or chondrocytes and intercellular matrix produced by these cells. Examples: bone (tissue), dense regular elastic tissue, areolar tissue, neuroglia, adipose tissue." []	2021126	\N	\N	EFO	4	EFO	organism part	connective tissue
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000388	"Tissue which consists of fibroblasts, osteocytes or chondrocytes and intercellular matrix produced by these cells. Examples: bone (tissue), dense regular elastic tissue, areolar tissue, neuroglia, adipose tissue." []	3175813	\N	\N	EFO	5	EFO	material entity	connective tissue
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000388	"Tissue which consists of fibroblasts, osteocytes or chondrocytes and intercellular matrix produced by these cells. Examples: bone (tissue), dense regular elastic tissue, areolar tissue, neuroglia, adipose tissue." []	4386585	\N	\N	EFO	6	EFO	experimental factor	connective tissue
CL:0000390	\N	\N	"" []	CL:0000390	"" []	62951	\N	\N	EFO	0	EFO	blood cell (sensu Nematoda and Protostomia)	blood cell (sensu Nematoda and Protostomia)
CL:0000081	CL:0000390	\N	"A cell found predominately in the blood." []	CL:0000390	"" []	202469	\N	\N	EFO	1	EFO	blood cell	blood cell (sensu Nematoda and Protostomia)
CL:0000081	CL:0000390	\N	"A cell found predominately in the blood." []	CL:0000390	"" []	202470	\N	\N	EFO	1	EFO	blood cell	blood cell (sensu Nematoda and Protostomia)
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000390	"" []	555369	\N	\N	EFO	2	EFO	hematopoietic cell	blood cell (sensu Nematoda and Protostomia)
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000390	"" []	555370	\N	\N	EFO	2	EFO	hematopoietic cell	blood cell (sensu Nematoda and Protostomia)
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000390	"" []	1138034	\N	\N	EFO	3	EFO	cell type	blood cell (sensu Nematoda and Protostomia)
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000390	"" []	1138035	\N	\N	EFO	3	EFO	somatic cell	blood cell (sensu Nematoda and Protostomia)
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000390	"" []	2021127	\N	\N	EFO	4	EFO	material entity	blood cell (sensu Nematoda and Protostomia)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000390	"" []	3175814	\N	\N	EFO	5	EFO	experimental factor	blood cell (sensu Nematoda and Protostomia)
CL:0000392	\N	\N	"A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982)." []	CL:0000392	"A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982)." []	62952	\N	\N	EFO	0	EFO	crystal cell	crystal cell
CL:0000391	\N	\N	"An insect immune cell that develops from plasmatocyte." [PMID:12930778]	CL:0000392	"A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982)." []	194126	\N	\N	EFO	0	EFO	podocyte (sensu Diptera)	crystal cell
EFO:0000795	CL:0000392	\N	"Embryonic structure (body structure)" []	CL:0000392	"A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982)." []	202471	\N	\N	EFO	1	EFO	animal developmental tissue	crystal cell
EFO:0000787	EFO:0000795	\N	"" []	CL:0000392	"A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982)." []	555371	\N	\N	EFO	2	EFO	animal component	crystal cell
EFO:0000786	EFO:0000787	\N	"" []	CL:0000392	"A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982)." []	1138036	\N	\N	EFO	3	EFO	anatomy basic component	crystal cell
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CL:0000392	"A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982)." []	2021128	\N	\N	EFO	4	EFO	organism part	crystal cell
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000392	"A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982)." []	3175815	\N	\N	EFO	5	EFO	material entity	crystal cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000392	"A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982)." []	4386586	\N	\N	EFO	6	EFO	experimental factor	crystal cell
CL:0000446	\N	\N	"Any of usually four small endocrine glands that are adjacent to or embedded in the thyroid gland and produce parathyroid hormone." []	CL:0000446	"Any of usually four small endocrine glands that are adjacent to or embedded in the thyroid gland and produce parathyroid hormone." []	62957	\N	\N	EFO	0	EFO	parathyroid	parathyroid
UBERON:0002530	\N	\N	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	CL:0000446	"Any of usually four small endocrine glands that are adjacent to or embedded in the thyroid gland and produce parathyroid hormone." []	194136	\N	efo_slim,uberon_slim	EFO	0	EFO	gland	parathyroid
CL:0000167	\N	\N	"" []	CL:0000446	"Any of usually four small endocrine glands that are adjacent to or embedded in the thyroid gland and produce parathyroid hormone." []	194137	\N	\N	EFO	0	EFO	peptide hormone secreting cell	parathyroid
CL:0002260	\N	\N	"An epithelial cell of the parathyroid gland." [GOC:tfm]	CL:0000446	"Any of usually four small endocrine glands that are adjacent to or embedded in the thyroid gland and produce parathyroid hormone." []	194138	\N	\N	EFO	0	EFO	epithelial cell of parathyroid gland	parathyroid
CL:0000451	\N	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000451	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	62958	\N	\N	EFO	0	EFO	dendritic cell	dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000451	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	202472	\N	\N	EFO	1	EFO	leukocyte	dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000451	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	202473	\N	\N	EFO	1	EFO	leukocyte	dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000451	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	555372	\N	\N	EFO	2	EFO	hematopoietic cell	dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000451	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	555373	\N	\N	EFO	2	EFO	hematopoietic cell	dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000451	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	1138037	\N	\N	EFO	3	EFO	cell type	dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000451	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	1138038	\N	\N	EFO	3	EFO	somatic cell	dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000451	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	2021129	\N	\N	EFO	4	EFO	material entity	dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000451	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	3175816	\N	\N	EFO	5	EFO	experimental factor	dendritic cell
CL:0000453	\N	\N	"" []	CL:0000453	"" []	62959	\N	\N	EFO	0	EFO	Langerhans cell	Langerhans cell
CL:0000766	CL:0000453	\N	"" []	CL:0000453	"" []	202474	\N	\N	EFO	1	EFO	myeloid leukocyte	Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0000453	"" []	202475	\N	\N	EFO	1	EFO	conventional dendritic cell	Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0000453	"" []	202476	\N	\N	EFO	1	EFO	conventional dendritic cell	Langerhans cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000453	"" []	555374	\N	\N	EFO	2	EFO	leukocyte	Langerhans cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000453	"" []	555375	\N	\N	EFO	2	EFO	myeloid cell	Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000453	"" []	555376	\N	\N	EFO	2	EFO	dendritic cell	Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000453	"" []	555377	\N	\N	EFO	2	EFO	dendritic cell	Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000453	"" []	2021132	\N	\N	EFO	4	EFO	hematopoietic cell	Langerhans cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000453	"" []	1138040	\N	\N	EFO	3	EFO	hematopoietic cell	Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000453	"" []	1138041	\N	\N	EFO	3	EFO	leukocyte	Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000453	"" []	1138042	\N	\N	EFO	3	EFO	leukocyte	Langerhans cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000453	"" []	2999170	\N	\N	EFO	5	EFO	somatic cell	Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000453	"" []	2021131	\N	\N	EFO	4	EFO	hematopoietic cell	Langerhans cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000453	"" []	3175817	\N	\N	EFO	5	EFO	cell type	Langerhans cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000453	"" []	4386587	\N	\N	EFO	6	EFO	material entity	Langerhans cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000453	"" []	5407772	\N	\N	EFO	7	EFO	experimental factor	Langerhans cell
CL:0000477	\N	\N	"" []	CL:0000477	"" []	62960	\N	\N	EFO	0	EFO	follicle cell	follicle cell
CL:0000075	\N	\N	"" []	CL:0000477	"" []	194139	\N	\N	EFO	0	EFO	columnar/cuboidal epithelial cell	follicle cell
EFO:0002962	CL:0000477	\N	"" []	CL:0000477	"" []	202477	\N	\N	EFO	1	EFO	animal reproductive system cell	follicle cell
UBERON:6007435	CL:0000477	\N	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	CL:0000477	"" []	202478	\N	\N	EFO	1	EFO	endocrine system component	follicle cell
EFO:0002955	EFO:0002962	\N	"" []	CL:0000477	"" []	555378	\N	\N	EFO	2	EFO	reproductive system cell	follicle cell
EFO:0000787	UBERON:6007435	\N	"" []	CL:0000477	"" []	555379	\N	\N	EFO	2	EFO	animal component	follicle cell
EFO:0000324	EFO:0002955	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000477	"" []	1138043	\N	\N	EFO	3	EFO	cell type	follicle cell
EFO:0000786	EFO:0000787	\N	"" []	CL:0000477	"" []	1138044	\N	\N	EFO	3	EFO	anatomy basic component	follicle cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000477	"" []	2021133	\N	\N	EFO	4	EFO	material entity	follicle cell
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CL:0000477	"" []	2021134	\N	\N	EFO	4	EFO	organism part	follicle cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000477	"" []	4386588	\N	\N	EFO	6	EFO	experimental factor	follicle cell
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000477	"" []	3175819	\N	\N	EFO	5	EFO	material entity	follicle cell
CL:0000484	\N	\N	"" []	CL:0000484	"" []	62961	\N	\N	EFO	0	EFO	connective tissue type mast cell	connective tissue type mast cell
CL:0002320	\N	\N	"A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone." [GOC:tfm, ISBN:0618947256]	CL:0000484	"" []	194140	\N	\N	EFO	0	EFO	connective tissue cell	connective tissue type mast cell
CL:0000097	CL:0000484	\N	"" []	CL:0000484	"" []	202479	\N	\N	EFO	1	EFO	mast cell	connective tissue type mast cell
CL:0000097	CL:0000484	\N	"" []	CL:0000484	"" []	202480	\N	\N	EFO	1	EFO	mast cell	connective tissue type mast cell
CL:0000766	CL:0000097	\N	"" []	CL:0000484	"" []	555380	\N	\N	EFO	2	EFO	myeloid leukocyte	connective tissue type mast cell
CL:0000766	CL:0000097	\N	"" []	CL:0000484	"" []	555381	\N	\N	EFO	2	EFO	myeloid leukocyte	connective tissue type mast cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000484	"" []	1138045	\N	\N	EFO	3	EFO	leukocyte	connective tissue type mast cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000484	"" []	1138046	\N	\N	EFO	3	EFO	leukocyte	connective tissue type mast cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000484	"" []	1138047	\N	\N	EFO	3	EFO	myeloid cell	connective tissue type mast cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000484	"" []	2021135	\N	\N	EFO	4	EFO	hematopoietic cell	connective tissue type mast cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000484	"" []	2021136	\N	\N	EFO	4	EFO	hematopoietic cell	connective tissue type mast cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000484	"" []	2021137	\N	\N	EFO	4	EFO	hematopoietic cell	connective tissue type mast cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000484	"" []	3175820	\N	\N	EFO	5	EFO	cell type	connective tissue type mast cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000484	"" []	3175821	\N	\N	EFO	5	EFO	somatic cell	connective tissue type mast cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000484	"" []	4386589	\N	\N	EFO	6	EFO	material entity	connective tissue type mast cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000484	"" []	5407773	\N	\N	EFO	7	EFO	experimental factor	connective tissue type mast cell
CL:0000485	\N	\N	"" []	CL:0000485	"" []	62962	\N	\N	EFO	0	EFO	mucosal type mast cell	mucosal type mast cell
CL:0000097	CL:0000485	\N	"" []	CL:0000485	"" []	202481	\N	\N	EFO	1	EFO	mast cell	mucosal type mast cell
CL:0000097	CL:0000485	\N	"" []	CL:0000485	"" []	202482	\N	\N	EFO	1	EFO	mast cell	mucosal type mast cell
CL:0000766	CL:0000097	\N	"" []	CL:0000485	"" []	555382	\N	\N	EFO	2	EFO	myeloid leukocyte	mucosal type mast cell
CL:0000766	CL:0000097	\N	"" []	CL:0000485	"" []	555383	\N	\N	EFO	2	EFO	myeloid leukocyte	mucosal type mast cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000485	"" []	1138048	\N	\N	EFO	3	EFO	leukocyte	mucosal type mast cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000485	"" []	1138049	\N	\N	EFO	3	EFO	leukocyte	mucosal type mast cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000485	"" []	1138050	\N	\N	EFO	3	EFO	myeloid cell	mucosal type mast cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000485	"" []	2021138	\N	\N	EFO	4	EFO	hematopoietic cell	mucosal type mast cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000485	"" []	2021139	\N	\N	EFO	4	EFO	hematopoietic cell	mucosal type mast cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000485	"" []	2021140	\N	\N	EFO	4	EFO	hematopoietic cell	mucosal type mast cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000485	"" []	3175822	\N	\N	EFO	5	EFO	cell type	mucosal type mast cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000485	"" []	3175823	\N	\N	EFO	5	EFO	somatic cell	mucosal type mast cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000485	"" []	4386590	\N	\N	EFO	6	EFO	material entity	mucosal type mast cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000485	"" []	5407774	\N	\N	EFO	7	EFO	experimental factor	mucosal type mast cell
CL:0000492	\N	\N	"" []	CL:0000492	"" []	62963	\N	\N	EFO	0	EFO	CD4-positive helper T cell	CD4-positive helper T cell
CL:0000624	CL:0000492	\N	"" []	CL:0000492	"" []	202483	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	CD4-positive helper T cell
CL:0000624	CL:0000492	\N	"" []	CL:0000492	"" []	202484	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	CD4-positive helper T cell
CL:0000912	CL:0000492	\N	"" []	CL:0000492	"" []	202485	\N	\N	EFO	1	EFO	helper T cell	CD4-positive helper T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000492	"" []	555384	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-positive helper T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000492	"" []	555385	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-positive helper T cell
CL:0000911	CL:0000912	\N	"" []	CL:0000492	"" []	555386	\N	\N	EFO	2	EFO	effector T cell	CD4-positive helper T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000492	"" []	1138051	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-positive helper T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000492	"" []	1138052	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-positive helper T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000492	"" []	1138053	\N	\N	EFO	3	EFO	mature T cell	CD4-positive helper T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000492	"" []	1138054	\N	\N	EFO	3	EFO	mature T cell	CD4-positive helper T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000492	"" []	2021141	\N	\N	EFO	4	EFO	T cell	CD4-positive helper T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000492	"" []	2021142	\N	\N	EFO	4	EFO	T cell	CD4-positive helper T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000492	"" []	2021143	\N	\N	EFO	4	EFO	T cell	CD4-positive helper T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000492	"" []	3175824	\N	\N	EFO	5	EFO	lymphocyte	CD4-positive helper T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000492	"" []	3175825	\N	\N	EFO	5	EFO	lymphocyte	CD4-positive helper T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000492	"" []	4386591	\N	\N	EFO	6	EFO	leukocyte	CD4-positive helper T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000492	"" []	4386592	\N	\N	EFO	6	EFO	nongranular leukocyte	CD4-positive helper T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000492	"" []	5407775	\N	\N	EFO	7	EFO	hematopoietic cell	CD4-positive helper T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000492	"" []	5407776	\N	\N	EFO	7	EFO	leukocyte	CD4-positive helper T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000492	"" []	6146825	\N	\N	EFO	8	EFO	cell type	CD4-positive helper T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000492	"" []	6146826	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-positive helper T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000492	"" []	6631465	\N	\N	EFO	9	EFO	material entity	CD4-positive helper T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000492	"" []	6631466	\N	\N	EFO	9	EFO	somatic cell	CD4-positive helper T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000492	"" []	6925120	\N	\N	EFO	10	EFO	experimental factor	CD4-positive helper T cell
CL:0000499	\N	\N	"A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere." []	CL:0000499	"A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere." []	62964	\N	\N	EFO	0	EFO	stromal cell	stromal cell
CL:0002320	\N	\N	"A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone." [GOC:tfm, ISBN:0618947256]	CL:0000499	"A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere." []	194141	\N	\N	EFO	0	EFO	connective tissue cell	stromal cell
EFO:0000324	CL:0000499	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000499	"A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere." []	202486	\N	\N	EFO	1	EFO	cell type	stromal cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000499	"A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere." []	555387	\N	\N	EFO	2	EFO	material entity	stromal cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000499	"A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere." []	1138055	\N	\N	EFO	3	EFO	experimental factor	stromal cell
CL:0000501	\N	\N	"A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." []	CL:0000501	"A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." []	62965	\N	\N	EFO	0	EFO	granulosa cell	granulosa cell
CL:0000174	\N	\N	"" []	CL:0000501	"A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." []	194142	\N	\N	EFO	0	EFO	steroid hormone secreting cell	granulosa cell
CL:0002174	\N	\N	"A cell within the follicle of an ovary." [GOC:tfm]	CL:0000501	"A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." []	194143	\N	\N	EFO	0	EFO	follicular cell of ovary	granulosa cell
EFO:0002962	CL:0000501	\N	"" []	CL:0000501	"A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." []	202487	\N	\N	EFO	1	EFO	animal reproductive system cell	granulosa cell
EFO:0002955	EFO:0002962	\N	"" []	CL:0000501	"A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." []	555388	\N	\N	EFO	2	EFO	reproductive system cell	granulosa cell
EFO:0000324	EFO:0002955	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000501	"A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." []	1138056	\N	\N	EFO	3	EFO	cell type	granulosa cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000501	"A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." []	2021144	\N	\N	EFO	4	EFO	material entity	granulosa cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000501	"A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." []	3175826	\N	\N	EFO	5	EFO	experimental factor	granulosa cell
CL:0000510	\N	\N	"An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix." []	CL:0000510	"An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix." []	62966	\N	\N	EFO	0	EFO	paneth cell	paneth cell
CL:0002563	\N	\N	"An epithelial cell of the intestine. [ GOC:tfm ] " []	CL:0000510	"An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix." []	194144	\N	\N	EFO	0	EFO	intestinal epithelial cell	paneth cell
CL:0000150	\N	\N	"A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules." [GOC:tfm]	CL:0000510	"An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix." []	194145	\N	\N	EFO	0	EFO	glandular epithelial cell	paneth cell
CL:0000323	\N	\N	"" []	CL:0000510	"An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix." []	194146	\N	\N	EFO	0	EFO	lysozyme secreting cell	paneth cell
CL:0000066	CL:0000510	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0000510	"An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix." []	202488	\N	\N	EFO	1	EFO	epithelial cell	paneth cell
CL:0000151	CL:0000510	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000510	"An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix." []	202489	\N	\N	EFO	1	EFO	secretory cell	paneth cell
EFO:0000324	CL:0000066	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000510	"An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix." []	555389	\N	\N	EFO	2	EFO	cell type	paneth cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000510	"An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix." []	555390	\N	\N	EFO	2	EFO	cell type	paneth cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000510	"An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix." []	1138057	\N	\N	EFO	3	EFO	material entity	paneth cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000510	"An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix." []	2021145	\N	\N	EFO	4	EFO	experimental factor	paneth cell
CL:0000514	\N	\N	"A precursor cell destined to differentiate into smooth muscle myocytes." []	CL:0000514	"A precursor cell destined to differentiate into smooth muscle myocytes." []	62967	\N	\N	EFO	0	EFO	smooth muscle myoblast	smooth muscle myoblast
CL:0000056	CL:0000514	\N	"An embryonic cell that becomes a cell of muscle fiber." []	CL:0000514	"A precursor cell destined to differentiate into smooth muscle myocytes." []	202490	\N	\N	EFO	1	EFO	myoblast	smooth muscle myoblast
CL:0000187	CL:0000514	\N	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	CL:0000514	"A precursor cell destined to differentiate into smooth muscle myocytes." []	202491	\N	\N	EFO	1	EFO	muscle cell	smooth muscle myoblast
EFO:0002956	CL:0000187	\N	"" []	CL:0000514	"A precursor cell destined to differentiate into smooth muscle myocytes." []	555391	\N	\N	EFO	2	EFO	musculo-skeletal system cell	smooth muscle myoblast
EFO:0000324	EFO:0002956	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000514	"A precursor cell destined to differentiate into smooth muscle myocytes." []	1138058	\N	\N	EFO	3	EFO	cell type	smooth muscle myoblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000514	"A precursor cell destined to differentiate into smooth muscle myocytes." []	2021146	\N	\N	EFO	4	EFO	material entity	smooth muscle myoblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000514	"A precursor cell destined to differentiate into smooth muscle myocytes." []	3175827	\N	\N	EFO	5	EFO	experimental factor	smooth muscle myoblast
CL:0000515	\N	\N	"A myoblast that differentiates into skeletal muscle fibers." []	CL:0000515	"A myoblast that differentiates into skeletal muscle fibers." []	62968	\N	\N	EFO	0	EFO	skeletal muscle myoblast	skeletal muscle myoblast
CL:0000056	CL:0000515	\N	"An embryonic cell that becomes a cell of muscle fiber." []	CL:0000515	"A myoblast that differentiates into skeletal muscle fibers." []	202492	\N	\N	EFO	1	EFO	myoblast	skeletal muscle myoblast
CL:0000056	CL:0000515	\N	"An embryonic cell that becomes a cell of muscle fiber." []	CL:0000515	"A myoblast that differentiates into skeletal muscle fibers." []	202493	\N	\N	EFO	1	EFO	myoblast	skeletal muscle myoblast
CL:0002321	CL:0000056	\N	"A cell of the embryo." []	CL:0000515	"A myoblast that differentiates into skeletal muscle fibers." []	555392	\N	\N	EFO	2	EFO	embryonic cell	skeletal muscle myoblast
EFO:0000324	CL:0002321	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000515	"A myoblast that differentiates into skeletal muscle fibers." []	1138059	\N	\N	EFO	3	EFO	cell type	skeletal muscle myoblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000515	"A myoblast that differentiates into skeletal muscle fibers." []	2021147	\N	\N	EFO	4	EFO	material entity	skeletal muscle myoblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000515	"A myoblast that differentiates into skeletal muscle fibers." []	3175828	\N	\N	EFO	5	EFO	experimental factor	skeletal muscle myoblast
CL:0000525	\N	\N	"A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy." []	CL:0000525	"A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy." []	62971	\N	\N	EFO	0	EFO	syncytiotrophoblast cell	syncytiotrophoblast cell
CL:0000228	\N	\N	"A cell with more than one nucleus." [FB:ma]	CL:0000525	"A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy." []	194151	\N	\N	EFO	0	EFO	multinucleate cell	syncytiotrophoblast cell
CL:0000351	CL:0000525	\N	"A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." []	CL:0000525	"A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy." []	202494	\N	\N	EFO	1	EFO	trophoblast cell	syncytiotrophoblast cell
EFO:0000324	CL:0000525	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000525	"A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy." []	202495	\N	\N	EFO	1	EFO	cell type	syncytiotrophoblast cell
CL:0000349	CL:0000351	\N	"A cell which is part of an extraembryonic structure associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis." []	CL:0000525	"A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy." []	555393	\N	\N	EFO	2	EFO	extraembryonic cell	syncytiotrophoblast cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000525	"A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy." []	555394	\N	\N	EFO	2	EFO	material entity	syncytiotrophoblast cell
CL:0002371	CL:0000349	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000525	"A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy." []	1138060	\N	\N	EFO	3	EFO	somatic cell	syncytiotrophoblast cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000525	"A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy." []	1138061	\N	\N	EFO	3	EFO	experimental factor	syncytiotrophoblast cell
CL:0000540	\N	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000540	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	62972	\N	\N	EFO	0	EFO	neuron	neuron
CL:0000393	\N	\N	"A cell whose function is determined by its response to an electric signal." [FB:ma]	CL:0000540	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	194152	\N	\N	EFO	0	EFO	electrically responsive cell	neuron
CL:0000404	\N	\N	"A cell that initiates an electrical signal and passes that signal to another cell." [FB:ma]	CL:0000540	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	194153	\N	\N	EFO	0	EFO	electrically signaling cell	neuron
CL:0002319	CL:0000540	\N	"" []	CL:0000540	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	202496	\N	\N	EFO	1	EFO	neural cell	neuron
EFO:0002963	CL:0000540	\N	"" []	CL:0000540	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	202497	\N	\N	EFO	1	EFO	nervous system cell	neuron
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000540	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	555395	\N	\N	EFO	2	EFO	somatic cell	neuron
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000540	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	555396	\N	\N	EFO	2	EFO	cell type	neuron
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000540	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	1138062	\N	\N	EFO	3	EFO	material entity	neuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000540	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	2021148	\N	\N	EFO	4	EFO	experimental factor	neuron
CL:0000542	\N	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000542	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	62973	\N	\N	EFO	0	EFO	lymphocyte	lymphocyte
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0000542	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	194154	\N	\N	EFO	0	EFO	nucleate cell	lymphocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000542	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	202498	\N	\N	EFO	1	EFO	leukocyte	lymphocyte
CL:0002087	CL:0000542	\N	"" []	CL:0000542	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	202499	\N	\N	EFO	1	EFO	nongranular leukocyte	lymphocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000542	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	555397	\N	\N	EFO	2	EFO	hematopoietic cell	lymphocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000542	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	555398	\N	\N	EFO	2	EFO	leukocyte	lymphocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000542	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	1138063	\N	\N	EFO	3	EFO	cell type	lymphocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000542	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	1138064	\N	\N	EFO	3	EFO	hematopoietic cell	lymphocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000542	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	2021149	\N	\N	EFO	4	EFO	material entity	lymphocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000542	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	2021150	\N	\N	EFO	4	EFO	somatic cell	lymphocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000542	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	3175829	\N	\N	EFO	5	EFO	experimental factor	lymphocyte
CL:0000545	\N	\N	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	62974	\N	\N	EFO	0	EFO	T-helper 1 cell	T-helper 1 cell
CL:0000492	CL:0000545	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	202500	\N	\N	EFO	1	EFO	CD4-positive helper T cell	T-helper 1 cell
CL:0000492	CL:0000545	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	202501	\N	\N	EFO	1	EFO	CD4-positive helper T cell	T-helper 1 cell
CL:0000624	CL:0000492	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	555399	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	T-helper 1 cell
CL:0000624	CL:0000492	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	555400	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	T-helper 1 cell
CL:0000912	CL:0000492	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	555401	\N	\N	EFO	2	EFO	helper T cell	T-helper 1 cell
CL:0000791	CL:0000624	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	1138065	\N	\N	EFO	3	EFO	mature alpha-beta T cell	T-helper 1 cell
CL:0000791	CL:0000624	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	1138066	\N	\N	EFO	3	EFO	mature alpha-beta T cell	T-helper 1 cell
CL:0000911	CL:0000912	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	1138067	\N	\N	EFO	3	EFO	effector T cell	T-helper 1 cell
CL:0000789	CL:0000791	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	2021151	\N	\N	EFO	4	EFO	alpha-beta T cell	T-helper 1 cell
CL:0000789	CL:0000791	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	2021152	\N	\N	EFO	4	EFO	alpha-beta T cell	T-helper 1 cell
CL:0002419	CL:0000791	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	2021153	\N	\N	EFO	4	EFO	mature T cell	T-helper 1 cell
CL:0002419	CL:0000911	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	2021154	\N	\N	EFO	4	EFO	mature T cell	T-helper 1 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	3175830	\N	\N	EFO	5	EFO	T cell	T-helper 1 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	3175831	\N	\N	EFO	5	EFO	T cell	T-helper 1 cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	3175832	\N	\N	EFO	5	EFO	T cell	T-helper 1 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	4386593	\N	\N	EFO	6	EFO	lymphocyte	T-helper 1 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	4386594	\N	\N	EFO	6	EFO	lymphocyte	T-helper 1 cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	5407777	\N	\N	EFO	7	EFO	leukocyte	T-helper 1 cell
CL:0002087	CL:0000542	\N	"" []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	5407778	\N	\N	EFO	7	EFO	nongranular leukocyte	T-helper 1 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	6146827	\N	\N	EFO	8	EFO	hematopoietic cell	T-helper 1 cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	6146828	\N	\N	EFO	8	EFO	leukocyte	T-helper 1 cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	6631467	\N	\N	EFO	9	EFO	cell type	T-helper 1 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	6631468	\N	\N	EFO	9	EFO	hematopoietic cell	T-helper 1 cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	6925121	\N	\N	EFO	10	EFO	material entity	T-helper 1 cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	6925122	\N	\N	EFO	10	EFO	somatic cell	T-helper 1 cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000545	"A CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive, CXCR3-positive, CCR6-negative, and is capable of producing interferon-gamma. This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells." []	7098912	\N	\N	EFO	11	EFO	experimental factor	T-helper 1 cell
CL:0000546	\N	\N	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	62975	\N	\N	EFO	0	EFO	T-helper 2 cell	T-helper 2 cell
CL:0001051	\N	\N	"A CD4-positive, alpha-beta T cell that has the phenotype CXCR3-negative, CCR6-negative." [GOC:add, PMID:22343568]	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	194155	\N	\N	EFO	0	EFO	CD4-positive, CXCR3-negative, CCR6-negative, alpha-beta T cell	T-helper 2 cell
CL:0000492	CL:0000546	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	202502	\N	\N	EFO	1	EFO	CD4-positive helper T cell	T-helper 2 cell
CL:0000492	CL:0000546	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	202503	\N	\N	EFO	1	EFO	CD4-positive helper T cell	T-helper 2 cell
CL:0000624	CL:0000492	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	555402	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	T-helper 2 cell
CL:0000624	CL:0000492	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	555403	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	T-helper 2 cell
CL:0000912	CL:0000492	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	555404	\N	\N	EFO	2	EFO	helper T cell	T-helper 2 cell
CL:0000791	CL:0000624	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	1138068	\N	\N	EFO	3	EFO	mature alpha-beta T cell	T-helper 2 cell
CL:0000791	CL:0000624	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	1138069	\N	\N	EFO	3	EFO	mature alpha-beta T cell	T-helper 2 cell
CL:0000911	CL:0000912	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	1138070	\N	\N	EFO	3	EFO	effector T cell	T-helper 2 cell
CL:0000789	CL:0000791	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	2021155	\N	\N	EFO	4	EFO	alpha-beta T cell	T-helper 2 cell
CL:0000789	CL:0000791	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	2021156	\N	\N	EFO	4	EFO	alpha-beta T cell	T-helper 2 cell
CL:0002419	CL:0000791	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	2021157	\N	\N	EFO	4	EFO	mature T cell	T-helper 2 cell
CL:0002419	CL:0000911	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	2021158	\N	\N	EFO	4	EFO	mature T cell	T-helper 2 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	3175833	\N	\N	EFO	5	EFO	T cell	T-helper 2 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	3175834	\N	\N	EFO	5	EFO	T cell	T-helper 2 cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	3175835	\N	\N	EFO	5	EFO	T cell	T-helper 2 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	4386595	\N	\N	EFO	6	EFO	lymphocyte	T-helper 2 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	4386596	\N	\N	EFO	6	EFO	lymphocyte	T-helper 2 cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	5407779	\N	\N	EFO	7	EFO	leukocyte	T-helper 2 cell
CL:0002087	CL:0000542	\N	"" []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	5407780	\N	\N	EFO	7	EFO	nongranular leukocyte	T-helper 2 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	6146829	\N	\N	EFO	8	EFO	hematopoietic cell	T-helper 2 cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	6146830	\N	\N	EFO	8	EFO	leukocyte	T-helper 2 cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	6631469	\N	\N	EFO	9	EFO	cell type	T-helper 2 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	6631470	\N	\N	EFO	9	EFO	hematopoietic cell	T-helper 2 cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	6925123	\N	\N	EFO	10	EFO	material entity	T-helper 2 cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	6925124	\N	\N	EFO	10	EFO	somatic cell	T-helper 2 cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000546	"A CD4-positive, alpha-beta T cell that has the phenotype GATA-3-positive, CXCR3-negative, CCR6-negative, and is capable of producing interleukin-4. This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell." []	7098913	\N	\N	EFO	11	EFO	experimental factor	T-helper 2 cell
CL:0000547	\N	\N	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	CL:0000547	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	62976	\N	\N	EFO	0	EFO	proerythroblast	proerythroblast
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0000547	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	194156	\N	\N	EFO	0	EFO	nucleate cell	proerythroblast
CL:0000764	CL:0000547	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000547	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	202504	\N	\N	EFO	1	EFO	erythroid lineage cell	proerythroblast
CL:0000764	CL:0000547	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000547	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	202505	\N	\N	EFO	1	EFO	erythroid lineage cell	proerythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000547	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	555405	\N	\N	EFO	2	EFO	myeloid cell	proerythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000547	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	555406	\N	\N	EFO	2	EFO	myeloid cell	proerythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000547	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	1138071	\N	\N	EFO	3	EFO	hematopoietic cell	proerythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000547	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	1138072	\N	\N	EFO	3	EFO	hematopoietic cell	proerythroblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000547	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	2021159	\N	\N	EFO	4	EFO	cell type	proerythroblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000547	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	2021160	\N	\N	EFO	4	EFO	somatic cell	proerythroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000547	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	3175836	\N	\N	EFO	5	EFO	material entity	proerythroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000547	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	4386597	\N	\N	EFO	6	EFO	experimental factor	proerythroblast
CL:0000549	\N	\N	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	62977	\N	\N	EFO	0	EFO	basophilic erythroblast	basophilic erythroblast
CL:0000765	CL:0000549	\N	"A nucleated precursor of an erythrocyte." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	202506	\N	\N	EFO	1	EFO	erythroblast	basophilic erythroblast
CL:0000765	CL:0000549	\N	"A nucleated precursor of an erythrocyte." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	202507	\N	\N	EFO	1	EFO	erythroblast	basophilic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	555407	\N	\N	EFO	2	EFO	erythroid lineage cell	basophilic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	555408	\N	\N	EFO	2	EFO	erythroid lineage cell	basophilic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	1138073	\N	\N	EFO	3	EFO	myeloid cell	basophilic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	1138074	\N	\N	EFO	3	EFO	myeloid cell	basophilic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	2021161	\N	\N	EFO	4	EFO	hematopoietic cell	basophilic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	2021162	\N	\N	EFO	4	EFO	hematopoietic cell	basophilic erythroblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	3175837	\N	\N	EFO	5	EFO	cell type	basophilic erythroblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	3175838	\N	\N	EFO	5	EFO	somatic cell	basophilic erythroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	4386598	\N	\N	EFO	6	EFO	material entity	basophilic erythroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000549	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	5407781	\N	\N	EFO	7	EFO	experimental factor	basophilic erythroblast
CL:0000550	\N	\N	"" []	CL:0000550	"" []	62978	\N	\N	EFO	0	EFO	polychromatophilic erythroblast	polychromatophilic erythroblast
CL:0000765	CL:0000550	\N	"A nucleated precursor of an erythrocyte." []	CL:0000550	"" []	202508	\N	\N	EFO	1	EFO	erythroblast	polychromatophilic erythroblast
CL:0000765	CL:0000550	\N	"A nucleated precursor of an erythrocyte." []	CL:0000550	"" []	202509	\N	\N	EFO	1	EFO	erythroblast	polychromatophilic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000550	"" []	555409	\N	\N	EFO	2	EFO	erythroid lineage cell	polychromatophilic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000550	"" []	555410	\N	\N	EFO	2	EFO	erythroid lineage cell	polychromatophilic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000550	"" []	1138075	\N	\N	EFO	3	EFO	myeloid cell	polychromatophilic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000550	"" []	1138076	\N	\N	EFO	3	EFO	myeloid cell	polychromatophilic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000550	"" []	2021163	\N	\N	EFO	4	EFO	hematopoietic cell	polychromatophilic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000550	"" []	2021164	\N	\N	EFO	4	EFO	hematopoietic cell	polychromatophilic erythroblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000550	"" []	3175839	\N	\N	EFO	5	EFO	cell type	polychromatophilic erythroblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000550	"" []	3175840	\N	\N	EFO	5	EFO	somatic cell	polychromatophilic erythroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000550	"" []	4386599	\N	\N	EFO	6	EFO	material entity	polychromatophilic erythroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000550	"" []	5407782	\N	\N	EFO	7	EFO	experimental factor	polychromatophilic erythroblast
CL:0000552	\N	\N	"" []	CL:0000552	"" []	62979	\N	\N	EFO	0	EFO	orthochromatic erythroblast	orthochromatic erythroblast
CL:0000765	CL:0000552	\N	"A nucleated precursor of an erythrocyte." []	CL:0000552	"" []	202510	\N	\N	EFO	1	EFO	erythroblast	orthochromatic erythroblast
CL:0000765	CL:0000552	\N	"A nucleated precursor of an erythrocyte." []	CL:0000552	"" []	202511	\N	\N	EFO	1	EFO	erythroblast	orthochromatic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000552	"" []	555411	\N	\N	EFO	2	EFO	erythroid lineage cell	orthochromatic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000552	"" []	555412	\N	\N	EFO	2	EFO	erythroid lineage cell	orthochromatic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000552	"" []	1138077	\N	\N	EFO	3	EFO	myeloid cell	orthochromatic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000552	"" []	1138078	\N	\N	EFO	3	EFO	myeloid cell	orthochromatic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000552	"" []	2021165	\N	\N	EFO	4	EFO	hematopoietic cell	orthochromatic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000552	"" []	2021166	\N	\N	EFO	4	EFO	hematopoietic cell	orthochromatic erythroblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000552	"" []	3175841	\N	\N	EFO	5	EFO	cell type	orthochromatic erythroblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000552	"" []	3175842	\N	\N	EFO	5	EFO	somatic cell	orthochromatic erythroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000552	"" []	4386600	\N	\N	EFO	6	EFO	material entity	orthochromatic erythroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000552	"" []	5407783	\N	\N	EFO	7	EFO	experimental factor	orthochromatic erythroblast
CL:0000553	\N	\N	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	CL:0000553	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	62980	\N	\N	EFO	0	EFO	megakaryocyte progenitor cell	megakaryocyte progenitor cell
CL:0000763	CL:0000553	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000553	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	202512	\N	\N	EFO	1	EFO	myeloid cell	megakaryocyte progenitor cell
CL:0000839	CL:0000553	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000553	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	202513	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	megakaryocyte progenitor cell
CL:0000839	CL:0000553	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000553	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	202514	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	megakaryocyte progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000553	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	555413	\N	\N	EFO	2	EFO	hematopoietic cell	megakaryocyte progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0000553	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	555414	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	megakaryocyte progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0000553	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	555415	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	megakaryocyte progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000553	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	1138079	\N	\N	EFO	3	EFO	somatic cell	megakaryocyte progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000553	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	1138080	\N	\N	EFO	3	EFO	hematopoietic cell	megakaryocyte progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000553	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	2021167	\N	\N	EFO	4	EFO	cell type	megakaryocyte progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000553	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	3175843	\N	\N	EFO	5	EFO	material entity	megakaryocyte progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000553	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	4386601	\N	\N	EFO	6	EFO	experimental factor	megakaryocyte progenitor cell
CL:0000556	\N	\N	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	CL:0000556	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	62981	\N	\N	EFO	0	EFO	megakaryocyte	megakaryocyte
CL:1001610	\N	\N	"Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes." [NPX:PDR]	CL:0000556	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	194157	\N	\N	EFO	0	EFO	bone marrow hematopoietic cell	megakaryocyte
CL:0000763	CL:0000556	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000556	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	202515	\N	\N	EFO	1	EFO	myeloid cell	megakaryocyte
CL:0000763	CL:0000556	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000556	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	202516	\N	\N	EFO	1	EFO	myeloid cell	megakaryocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000556	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	555416	\N	\N	EFO	2	EFO	hematopoietic cell	megakaryocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000556	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	555417	\N	\N	EFO	2	EFO	hematopoietic cell	megakaryocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000556	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	1138081	\N	\N	EFO	3	EFO	cell type	megakaryocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000556	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	1138082	\N	\N	EFO	3	EFO	somatic cell	megakaryocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000556	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	2021168	\N	\N	EFO	4	EFO	material entity	megakaryocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000556	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	3175844	\N	\N	EFO	5	EFO	experimental factor	megakaryocyte
CL:0000557	\N	\N	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	CL:0000557	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	62982	\N	\N	EFO	0	EFO	granulocyte monocyte progenitor cell	granulocyte monocyte progenitor cell
CL:0011115	\N	\N	"A cell that, by division or terminal differentiation, can give rise to other cell types." [GOC:dos]	CL:0000557	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	194158	\N	\N	EFO	0	EFO	precursor cell	granulocyte monocyte progenitor cell
CL:1001610	\N	\N	"Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes." [NPX:PDR]	CL:0000557	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	194159	\N	\N	EFO	0	EFO	bone marrow hematopoietic cell	granulocyte monocyte progenitor cell
CL:0000763	CL:0000557	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000557	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	202517	\N	\N	EFO	1	EFO	myeloid cell	granulocyte monocyte progenitor cell
CL:0001012	CL:0000557	\N	"" []	CL:0000557	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	202518	\N	\N	EFO	1	EFO	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor	granulocyte monocyte progenitor cell
CL:0002032	CL:0000557	\N	"" []	CL:0000557	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	202519	\N	\N	EFO	1	EFO	hematopoietic oligopotent progenitor cell	granulocyte monocyte progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000557	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	555418	\N	\N	EFO	2	EFO	hematopoietic cell	granulocyte monocyte progenitor cell
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0000557	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	555419	\N	\N	EFO	2	EFO	hematopoietic cell	granulocyte monocyte progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000557	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	1138083	\N	\N	EFO	3	EFO	somatic cell	granulocyte monocyte progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000557	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	1138084	\N	\N	EFO	3	EFO	cell type	granulocyte monocyte progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000557	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	2021169	\N	\N	EFO	4	EFO	material entity	granulocyte monocyte progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000557	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	3175845	\N	\N	EFO	5	EFO	experimental factor	granulocyte monocyte progenitor cell
CL:0000558	\N	\N	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	CL:0000558	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	62983	\N	\N	EFO	0	EFO	reticulocyte	reticulocyte
CL:0000764	CL:0000558	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000558	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	202520	\N	\N	EFO	1	EFO	erythroid lineage cell	reticulocyte
CL:0000764	CL:0000558	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000558	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	202521	\N	\N	EFO	1	EFO	erythroid lineage cell	reticulocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000558	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	555420	\N	\N	EFO	2	EFO	myeloid cell	reticulocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000558	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	555421	\N	\N	EFO	2	EFO	myeloid cell	reticulocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000558	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	1138085	\N	\N	EFO	3	EFO	hematopoietic cell	reticulocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000558	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	1138086	\N	\N	EFO	3	EFO	hematopoietic cell	reticulocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000558	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	2021170	\N	\N	EFO	4	EFO	cell type	reticulocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000558	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	2021171	\N	\N	EFO	4	EFO	somatic cell	reticulocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000558	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	3175846	\N	\N	EFO	5	EFO	material entity	reticulocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000558	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	4386602	\N	\N	EFO	6	EFO	experimental factor	reticulocyte
CL:0000559	\N	\N	"" []	CL:0000559	"" []	62984	\N	\N	EFO	0	EFO	promonocyte	promonocyte
CL:0000763	CL:0000559	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000559	"" []	202522	\N	\N	EFO	1	EFO	myeloid cell	promonocyte
CL:0002194	CL:0000559	\N	"" []	CL:0000559	"" []	202523	\N	\N	EFO	1	EFO	monopoietic cell	promonocyte
CL:0002194	CL:0000559	\N	"" []	CL:0000559	"" []	202524	\N	\N	EFO	1	EFO	monopoietic cell	promonocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000559	"" []	555422	\N	\N	EFO	2	EFO	hematopoietic cell	promonocyte
CL:0000839	CL:0002194	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000559	"" []	555423	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	promonocyte
CL:0000839	CL:0002194	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000559	"" []	555424	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	promonocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000559	"" []	1138087	\N	\N	EFO	3	EFO	somatic cell	promonocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000559	"" []	1138088	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	promonocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000559	"" []	1138089	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	promonocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000559	"" []	2021172	\N	\N	EFO	4	EFO	hematopoietic cell	promonocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000559	"" []	3175847	\N	\N	EFO	5	EFO	cell type	promonocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000559	"" []	4386603	\N	\N	EFO	6	EFO	material entity	promonocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000559	"" []	5407784	\N	\N	EFO	7	EFO	experimental factor	promonocyte
CL:0000560	\N	\N	"" []	CL:0000560	"" []	62985	\N	\N	EFO	0	EFO	band form neutrophil	band form neutrophil
CL:0000096	CL:0000560	\N	"" []	CL:0000560	"" []	202525	\N	\N	EFO	1	EFO	mature neutrophil	band form neutrophil
CL:0000776	CL:0000560	\N	"" []	CL:0000560	"" []	202526	\N	\N	EFO	1	EFO	immature neutrophil	band form neutrophil
CL:0000775	CL:0000096	\N	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	CL:0000560	"" []	555425	\N	\N	EFO	2	EFO	neutrophil	band form neutrophil
CL:0000775	CL:0000776	\N	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	CL:0000560	"" []	555426	\N	\N	EFO	2	EFO	neutrophil	band form neutrophil
CL:0000094	CL:0000775	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000560	"" []	1138090	\N	\N	EFO	3	EFO	granulocyte	band form neutrophil
CL:0000094	CL:0000775	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000560	"" []	1138091	\N	\N	EFO	3	EFO	granulocyte	band form neutrophil
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000560	"" []	2021173	\N	\N	EFO	4	EFO	blood cell	band form neutrophil
CL:0000766	CL:0000094	\N	"" []	CL:0000560	"" []	2021174	\N	\N	EFO	4	EFO	myeloid leukocyte	band form neutrophil
CL:0000766	CL:0000094	\N	"" []	CL:0000560	"" []	2021175	\N	\N	EFO	4	EFO	myeloid leukocyte	band form neutrophil
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000560	"" []	3175848	\N	\N	EFO	5	EFO	hematopoietic cell	band form neutrophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000560	"" []	3175849	\N	\N	EFO	5	EFO	leukocyte	band form neutrophil
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000560	"" []	3175850	\N	\N	EFO	5	EFO	myeloid cell	band form neutrophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000560	"" []	3175851	\N	\N	EFO	5	EFO	leukocyte	band form neutrophil
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000560	"" []	5407785	\N	\N	EFO	7	EFO	somatic cell	band form neutrophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000560	"" []	4386605	\N	\N	EFO	6	EFO	hematopoietic cell	band form neutrophil
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000560	"" []	4386606	\N	\N	EFO	6	EFO	hematopoietic cell	band form neutrophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000560	"" []	4386607	\N	\N	EFO	6	EFO	hematopoietic cell	band form neutrophil
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000560	"" []	5407786	\N	\N	EFO	7	EFO	cell type	band form neutrophil
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000560	"" []	6146831	\N	\N	EFO	8	EFO	material entity	band form neutrophil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000560	"" []	6631471	\N	\N	EFO	9	EFO	experimental factor	band form neutrophil
CL:0000562	\N	\N	"" []	CL:0000562	"" []	62986	\N	\N	EFO	0	EFO	nucleate erythrocyte	nucleate erythrocyte
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0000562	"" []	194160	\N	\N	EFO	0	EFO	nucleate cell	nucleate erythrocyte
CL:0000232	CL:0000562	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0000562	"" []	202527	\N	\N	EFO	1	EFO	erythrocyte	nucleate erythrocyte
CL:0000232	CL:0000562	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0000562	"" []	202528	\N	\N	EFO	1	EFO	erythrocyte	nucleate erythrocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000562	"" []	555427	\N	\N	EFO	2	EFO	erythroid lineage cell	nucleate erythrocyte
CL:0000081	CL:0000232	\N	"A cell found predominately in the blood." []	CL:0000562	"" []	555428	\N	\N	EFO	2	EFO	blood cell	nucleate erythrocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000562	"" []	555429	\N	\N	EFO	2	EFO	erythroid lineage cell	nucleate erythrocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000562	"" []	1138092	\N	\N	EFO	3	EFO	myeloid cell	nucleate erythrocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000562	"" []	1138093	\N	\N	EFO	3	EFO	hematopoietic cell	nucleate erythrocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000562	"" []	1138094	\N	\N	EFO	3	EFO	myeloid cell	nucleate erythrocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000562	"" []	2021176	\N	\N	EFO	4	EFO	hematopoietic cell	nucleate erythrocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000562	"" []	3175853	\N	\N	EFO	5	EFO	somatic cell	nucleate erythrocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000562	"" []	2021178	\N	\N	EFO	4	EFO	hematopoietic cell	nucleate erythrocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000562	"" []	3175852	\N	\N	EFO	5	EFO	cell type	nucleate erythrocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000562	"" []	4386608	\N	\N	EFO	6	EFO	material entity	nucleate erythrocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000562	"" []	5407787	\N	\N	EFO	7	EFO	experimental factor	nucleate erythrocyte
CL:0000564	\N	\N	"" []	CL:0000564	"" []	62987	\N	\N	EFO	0	EFO	neutrophilic promyelocyte	neutrophilic promyelocyte
CL:0000834	CL:0000564	\N	"" []	CL:0000564	"" []	202529	\N	\N	EFO	1	EFO	neutrophil progenitor cell	neutrophilic promyelocyte
CL:0000836	CL:0000564	\N	"" []	CL:0000564	"" []	202530	\N	\N	EFO	1	EFO	promyelocyte	neutrophilic promyelocyte
CL:0000836	CL:0000564	\N	"" []	CL:0000564	"" []	202531	\N	\N	EFO	1	EFO	promyelocyte	neutrophilic promyelocyte
CL:0000763	CL:0000834	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000564	"" []	555430	\N	\N	EFO	2	EFO	myeloid cell	neutrophilic promyelocyte
CL:0002191	CL:0000834	\N	"" []	CL:0000564	"" []	555431	\N	\N	EFO	2	EFO	granulocytopoietic cell	neutrophilic promyelocyte
CL:0002191	CL:0000836	\N	"" []	CL:0000564	"" []	555432	\N	\N	EFO	2	EFO	granulocytopoietic cell	neutrophilic promyelocyte
CL:0000763	CL:0000836	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000564	"" []	555433	\N	\N	EFO	2	EFO	myeloid cell	neutrophilic promyelocyte
CL:0002191	CL:0000836	\N	"" []	CL:0000564	"" []	555434	\N	\N	EFO	2	EFO	granulocytopoietic cell	neutrophilic promyelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000564	"" []	1138095	\N	\N	EFO	3	EFO	hematopoietic cell	neutrophilic promyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000564	"" []	1138096	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	neutrophilic promyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000564	"" []	1138097	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	neutrophilic promyelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000564	"" []	2021179	\N	\N	EFO	4	EFO	somatic cell	neutrophilic promyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000564	"" []	2021180	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	neutrophilic promyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000564	"" []	2021181	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	neutrophilic promyelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000564	"" []	3175854	\N	\N	EFO	5	EFO	hematopoietic cell	neutrophilic promyelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000564	"" []	4386609	\N	\N	EFO	6	EFO	cell type	neutrophilic promyelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000564	"" []	5407788	\N	\N	EFO	7	EFO	material entity	neutrophilic promyelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000564	"" []	6146832	\N	\N	EFO	8	EFO	experimental factor	neutrophilic promyelocyte
CL:0000576	\N	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	62988	\N	\N	EFO	0	EFO	monocyte	monocyte
CL:0011115	\N	\N	"A cell that, by division or terminal differentiation, can give rise to other cell types." [GOC:dos]	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	194161	\N	\N	EFO	0	EFO	precursor cell	monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	202532	\N	\N	EFO	1	EFO	myeloid leukocyte	monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	202533	\N	\N	EFO	1	EFO	myeloid leukocyte	monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	202534	\N	\N	EFO	1	EFO	mononuclear cell	monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	555435	\N	\N	EFO	2	EFO	leukocyte	monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	555436	\N	\N	EFO	2	EFO	leukocyte	monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	555437	\N	\N	EFO	2	EFO	myeloid cell	monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	555438	\N	\N	EFO	2	EFO	nongranular leukocyte	monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	1138098	\N	\N	EFO	3	EFO	hematopoietic cell	monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	2021184	\N	\N	EFO	4	EFO	hematopoietic cell	monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	1138100	\N	\N	EFO	3	EFO	hematopoietic cell	monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	1138101	\N	\N	EFO	3	EFO	leukocyte	monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	2021182	\N	\N	EFO	4	EFO	cell type	monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	2999171	\N	\N	EFO	5	EFO	somatic cell	monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	3175855	\N	\N	EFO	5	EFO	material entity	monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000576	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	4386610	\N	\N	EFO	6	EFO	experimental factor	monocyte
CL:0000579	\N	\N	"A follicle cell that migrates from the anterior pole of the egg chamber, between the nurse cells, to the anterior of the oocyte where they participate in formation of the micropyle. About 6-10 border cells per egg chamber migrate as a tightly associated cluster." []	CL:0000579	"A follicle cell that migrates from the anterior pole of the egg chamber, between the nurse cells, to the anterior of the oocyte where they participate in formation of the micropyle. About 6-10 border cells per egg chamber migrate as a tightly associated cluster." []	62989	\N	\N	EFO	0	EFO	border follicle cell	border follicle cell
CL:0000477	CL:0000579	\N	"" []	CL:0000579	"A follicle cell that migrates from the anterior pole of the egg chamber, between the nurse cells, to the anterior of the oocyte where they participate in formation of the micropyle. About 6-10 border cells per egg chamber migrate as a tightly associated cluster." []	202535	\N	\N	EFO	1	EFO	follicle cell	border follicle cell
EFO:0000324	CL:0000579	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000579	"A follicle cell that migrates from the anterior pole of the egg chamber, between the nurse cells, to the anterior of the oocyte where they participate in formation of the micropyle. About 6-10 border cells per egg chamber migrate as a tightly associated cluster." []	202536	\N	\N	EFO	1	EFO	cell type	border follicle cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000579	"A follicle cell that migrates from the anterior pole of the egg chamber, between the nurse cells, to the anterior of the oocyte where they participate in formation of the micropyle. About 6-10 border cells per egg chamber migrate as a tightly associated cluster." []	555439	\N	\N	EFO	2	EFO	material entity	border follicle cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000579	"A follicle cell that migrates from the anterior pole of the egg chamber, between the nurse cells, to the anterior of the oocyte where they participate in formation of the micropyle. About 6-10 border cells per egg chamber migrate as a tightly associated cluster." []	1138102	\N	\N	EFO	3	EFO	experimental factor	border follicle cell
CL:0000580	\N	\N	"" []	CL:0000580	"" []	62990	\N	\N	EFO	0	EFO	neutrophilic myelocyte	neutrophilic myelocyte
CL:0000776	CL:0000580	\N	"" []	CL:0000580	"" []	202537	\N	\N	EFO	1	EFO	immature neutrophil	neutrophilic myelocyte
CL:0000776	CL:0000580	\N	"" []	CL:0000580	"" []	202538	\N	\N	EFO	1	EFO	immature neutrophil	neutrophilic myelocyte
CL:0002087	CL:0000580	\N	"" []	CL:0000580	"" []	202539	\N	\N	EFO	1	EFO	nongranular leukocyte	neutrophilic myelocyte
CL:0002193	CL:0000580	\N	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	CL:0000580	"" []	202540	\N	\N	EFO	1	EFO	myelocyte	neutrophilic myelocyte
CL:0002193	CL:0000580	\N	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	CL:0000580	"" []	202541	\N	\N	EFO	1	EFO	myelocyte	neutrophilic myelocyte
CL:0000775	CL:0000776	\N	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	CL:0000580	"" []	555440	\N	\N	EFO	2	EFO	neutrophil	neutrophilic myelocyte
CL:0000775	CL:0000776	\N	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	CL:0000580	"" []	555441	\N	\N	EFO	2	EFO	neutrophil	neutrophilic myelocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000580	"" []	555442	\N	\N	EFO	2	EFO	leukocyte	neutrophilic myelocyte
CL:0002191	CL:0002193	\N	"" []	CL:0000580	"" []	555443	\N	\N	EFO	2	EFO	granulocytopoietic cell	neutrophilic myelocyte
CL:0000763	CL:0002193	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000580	"" []	555444	\N	\N	EFO	2	EFO	myeloid cell	neutrophilic myelocyte
CL:0002191	CL:0002193	\N	"" []	CL:0000580	"" []	555445	\N	\N	EFO	2	EFO	granulocytopoietic cell	neutrophilic myelocyte
CL:0000094	CL:0000775	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000580	"" []	1138103	\N	\N	EFO	3	EFO	granulocyte	neutrophilic myelocyte
CL:0000094	CL:0000775	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000580	"" []	1138104	\N	\N	EFO	3	EFO	granulocyte	neutrophilic myelocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000580	"" []	4386613	\N	\N	EFO	6	EFO	hematopoietic cell	neutrophilic myelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000580	"" []	1138106	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	neutrophilic myelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000580	"" []	4386614	\N	\N	EFO	6	EFO	hematopoietic cell	neutrophilic myelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000580	"" []	1138108	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	neutrophilic myelocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000580	"" []	2021185	\N	\N	EFO	4	EFO	myeloid leukocyte	neutrophilic myelocyte
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000580	"" []	2021186	\N	\N	EFO	4	EFO	blood cell	neutrophilic myelocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000580	"" []	2021187	\N	\N	EFO	4	EFO	myeloid leukocyte	neutrophilic myelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000580	"" []	5028312	\N	\N	EFO	7	EFO	somatic cell	neutrophilic myelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000580	"" []	2021189	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	neutrophilic myelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000580	"" []	2021190	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	neutrophilic myelocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000580	"" []	3175856	\N	\N	EFO	5	EFO	leukocyte	neutrophilic myelocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000580	"" []	3175857	\N	\N	EFO	5	EFO	hematopoietic cell	neutrophilic myelocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000580	"" []	3175858	\N	\N	EFO	5	EFO	leukocyte	neutrophilic myelocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000580	"" []	3175859	\N	\N	EFO	5	EFO	myeloid cell	neutrophilic myelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000580	"" []	3175860	\N	\N	EFO	5	EFO	hematopoietic cell	neutrophilic myelocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000580	"" []	4386611	\N	\N	EFO	6	EFO	hematopoietic cell	neutrophilic myelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000580	"" []	5407789	\N	\N	EFO	7	EFO	cell type	neutrophilic myelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000580	"" []	5996481	\N	\N	EFO	8	EFO	material entity	neutrophilic myelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000580	"" []	6550309	\N	\N	EFO	9	EFO	experimental factor	neutrophilic myelocyte
CL:0000581	\N	\N	"" []	CL:0000581	"" []	62991	\N	\N	EFO	0	EFO	peritoneal macrophage	peritoneal macrophage
CL:0000864	CL:0000581	\N	"" []	CL:0000581	"" []	202542	\N	\N	EFO	1	EFO	tissue-resident macrophage	peritoneal macrophage
CL:0000864	CL:0000581	\N	"" []	CL:0000581	"" []	202543	\N	\N	EFO	1	EFO	tissue-resident macrophage	peritoneal macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000581	"" []	555446	\N	\N	EFO	2	EFO	macrophage	peritoneal macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000581	"" []	555447	\N	\N	EFO	2	EFO	macrophage	peritoneal macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000581	"" []	1138109	\N	\N	EFO	3	EFO	myeloid leukocyte	peritoneal macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000581	"" []	1138110	\N	\N	EFO	3	EFO	myeloid leukocyte	peritoneal macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000581	"" []	2021191	\N	\N	EFO	4	EFO	leukocyte	peritoneal macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000581	"" []	2021192	\N	\N	EFO	4	EFO	leukocyte	peritoneal macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000581	"" []	2021193	\N	\N	EFO	4	EFO	myeloid cell	peritoneal macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000581	"" []	3175861	\N	\N	EFO	5	EFO	hematopoietic cell	peritoneal macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000581	"" []	3175862	\N	\N	EFO	5	EFO	hematopoietic cell	peritoneal macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000581	"" []	3175863	\N	\N	EFO	5	EFO	hematopoietic cell	peritoneal macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000581	"" []	4386616	\N	\N	EFO	6	EFO	cell type	peritoneal macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000581	"" []	4386617	\N	\N	EFO	6	EFO	somatic cell	peritoneal macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000581	"" []	5407791	\N	\N	EFO	7	EFO	material entity	peritoneal macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000581	"" []	6146834	\N	\N	EFO	8	EFO	experimental factor	peritoneal macrophage
CL:0000582	\N	\N	"" []	CL:0000582	"" []	62992	\N	\N	EFO	0	EFO	neutrophilic metamyelocyte	neutrophilic metamyelocyte
CL:0000776	CL:0000582	\N	"" []	CL:0000582	"" []	202544	\N	\N	EFO	1	EFO	immature neutrophil	neutrophilic metamyelocyte
CL:0000776	CL:0000582	\N	"" []	CL:0000582	"" []	202545	\N	\N	EFO	1	EFO	immature neutrophil	neutrophilic metamyelocyte
CL:0002192	CL:0000582	\N	"" []	CL:0000582	"" []	202546	\N	\N	EFO	1	EFO	metamyelocyte	neutrophilic metamyelocyte
CL:0002192	CL:0000582	\N	"" []	CL:0000582	"" []	202547	\N	\N	EFO	1	EFO	metamyelocyte	neutrophilic metamyelocyte
CL:0000775	CL:0000776	\N	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	CL:0000582	"" []	555448	\N	\N	EFO	2	EFO	neutrophil	neutrophilic metamyelocyte
CL:0000775	CL:0000776	\N	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	CL:0000582	"" []	555449	\N	\N	EFO	2	EFO	neutrophil	neutrophilic metamyelocyte
CL:0002191	CL:0002192	\N	"" []	CL:0000582	"" []	555450	\N	\N	EFO	2	EFO	granulocytopoietic cell	neutrophilic metamyelocyte
CL:0000763	CL:0002192	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000582	"" []	555451	\N	\N	EFO	2	EFO	myeloid cell	neutrophilic metamyelocyte
CL:0002191	CL:0002192	\N	"" []	CL:0000582	"" []	555452	\N	\N	EFO	2	EFO	granulocytopoietic cell	neutrophilic metamyelocyte
CL:0000094	CL:0000775	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000582	"" []	1138111	\N	\N	EFO	3	EFO	granulocyte	neutrophilic metamyelocyte
CL:0000094	CL:0000775	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000582	"" []	1138112	\N	\N	EFO	3	EFO	granulocyte	neutrophilic metamyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000582	"" []	1138113	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	neutrophilic metamyelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000582	"" []	4386621	\N	\N	EFO	6	EFO	hematopoietic cell	neutrophilic metamyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000582	"" []	1138115	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	neutrophilic metamyelocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000582	"" []	2021194	\N	\N	EFO	4	EFO	myeloid leukocyte	neutrophilic metamyelocyte
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000582	"" []	2021195	\N	\N	EFO	4	EFO	blood cell	neutrophilic metamyelocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000582	"" []	2021196	\N	\N	EFO	4	EFO	myeloid leukocyte	neutrophilic metamyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000582	"" []	2021197	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	neutrophilic metamyelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000582	"" []	5028313	\N	\N	EFO	7	EFO	somatic cell	neutrophilic metamyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000582	"" []	2021199	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	neutrophilic metamyelocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000582	"" []	3175864	\N	\N	EFO	5	EFO	leukocyte	neutrophilic metamyelocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000582	"" []	3175865	\N	\N	EFO	5	EFO	hematopoietic cell	neutrophilic metamyelocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000582	"" []	3175866	\N	\N	EFO	5	EFO	leukocyte	neutrophilic metamyelocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000582	"" []	3175867	\N	\N	EFO	5	EFO	myeloid cell	neutrophilic metamyelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000582	"" []	3175868	\N	\N	EFO	5	EFO	hematopoietic cell	neutrophilic metamyelocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000582	"" []	4386618	\N	\N	EFO	6	EFO	hematopoietic cell	neutrophilic metamyelocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000582	"" []	4386620	\N	\N	EFO	6	EFO	hematopoietic cell	neutrophilic metamyelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000582	"" []	5407792	\N	\N	EFO	7	EFO	cell type	neutrophilic metamyelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000582	"" []	5996482	\N	\N	EFO	8	EFO	material entity	neutrophilic metamyelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000582	"" []	6550310	\N	\N	EFO	9	EFO	experimental factor	neutrophilic metamyelocyte
CL:0000583	\N	\N	"" []	CL:0000583	"" []	62993	\N	\N	EFO	0	EFO	alveolar macrophage	alveolar macrophage
CL:0000864	CL:0000583	\N	"" []	CL:0000583	"" []	202548	\N	\N	EFO	1	EFO	tissue-resident macrophage	alveolar macrophage
CL:0000864	CL:0000583	\N	"" []	CL:0000583	"" []	202549	\N	\N	EFO	1	EFO	tissue-resident macrophage	alveolar macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000583	"" []	555453	\N	\N	EFO	2	EFO	macrophage	alveolar macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000583	"" []	555454	\N	\N	EFO	2	EFO	macrophage	alveolar macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000583	"" []	1138116	\N	\N	EFO	3	EFO	myeloid leukocyte	alveolar macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000583	"" []	1138117	\N	\N	EFO	3	EFO	myeloid leukocyte	alveolar macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000583	"" []	2021200	\N	\N	EFO	4	EFO	leukocyte	alveolar macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000583	"" []	2021201	\N	\N	EFO	4	EFO	leukocyte	alveolar macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000583	"" []	2021202	\N	\N	EFO	4	EFO	myeloid cell	alveolar macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000583	"" []	3175869	\N	\N	EFO	5	EFO	hematopoietic cell	alveolar macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000583	"" []	3175870	\N	\N	EFO	5	EFO	hematopoietic cell	alveolar macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000583	"" []	3175871	\N	\N	EFO	5	EFO	hematopoietic cell	alveolar macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000583	"" []	4386623	\N	\N	EFO	6	EFO	cell type	alveolar macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000583	"" []	4386624	\N	\N	EFO	6	EFO	somatic cell	alveolar macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000583	"" []	5407794	\N	\N	EFO	7	EFO	material entity	alveolar macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000583	"" []	6146836	\N	\N	EFO	8	EFO	experimental factor	alveolar macrophage
CL:0000586	\N	\N	"The reproductive cell in multicellular organisms." []	CL:0000586	"The reproductive cell in multicellular organisms." []	62994	\N	\N	EFO	0	EFO	germ cell	germ cell
CL:0000039	\N	\N	"A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring." [GOC:tfm, ISBN:0721662544]	CL:0000586	"The reproductive cell in multicellular organisms." []	194162	\N	ubprop_upper_level	EFO	0	EFO	germ line cell	germ cell
EFO:0002955	CL:0000586	\N	"" []	CL:0000586	"The reproductive cell in multicellular organisms." []	202550	\N	\N	EFO	1	EFO	reproductive system cell	germ cell
EFO:0000324	EFO:0002955	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000586	"The reproductive cell in multicellular organisms." []	555455	\N	\N	EFO	2	EFO	cell type	germ cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000586	"The reproductive cell in multicellular organisms." []	1138118	\N	\N	EFO	3	EFO	material entity	germ cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000586	"The reproductive cell in multicellular organisms." []	2021203	\N	\N	EFO	4	EFO	experimental factor	germ cell
CL:0000588	\N	\N	"" []	CL:0000588	"" []	62995	\N	\N	EFO	0	EFO	odontoclast	odontoclast
CL:0000092	CL:0000588	\N	"" []	CL:0000588	"" []	202551	\N	\N	EFO	1	EFO	osteoclast	odontoclast
CL:0000092	CL:0000588	\N	"" []	CL:0000588	"" []	202552	\N	\N	EFO	1	EFO	osteoclast	odontoclast
CL:0000766	CL:0000092	\N	"" []	CL:0000588	"" []	555456	\N	\N	EFO	2	EFO	myeloid leukocyte	odontoclast
CL:0000766	CL:0000092	\N	"" []	CL:0000588	"" []	555457	\N	\N	EFO	2	EFO	myeloid leukocyte	odontoclast
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000588	"" []	1138119	\N	\N	EFO	3	EFO	leukocyte	odontoclast
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000588	"" []	1138120	\N	\N	EFO	3	EFO	leukocyte	odontoclast
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000588	"" []	1138121	\N	\N	EFO	3	EFO	myeloid cell	odontoclast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000588	"" []	2021204	\N	\N	EFO	4	EFO	hematopoietic cell	odontoclast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000588	"" []	2021205	\N	\N	EFO	4	EFO	hematopoietic cell	odontoclast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000588	"" []	2021206	\N	\N	EFO	4	EFO	hematopoietic cell	odontoclast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000588	"" []	3175872	\N	\N	EFO	5	EFO	cell type	odontoclast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000588	"" []	3175873	\N	\N	EFO	5	EFO	somatic cell	odontoclast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000588	"" []	4386625	\N	\N	EFO	6	EFO	material entity	odontoclast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000588	"" []	5407795	\N	\N	EFO	7	EFO	experimental factor	odontoclast
CL:0000595	\N	\N	"" []	CL:0000595	"" []	62996	\N	\N	EFO	0	EFO	enucleate erythrocyte	enucleate erythrocyte
CL:0000225	\N	\N	"A cell that lacks a nucleus." [FB:ma]	CL:0000595	"" []	194163	\N	\N	EFO	0	EFO	anucleate cell	enucleate erythrocyte
CL:0000232	CL:0000595	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0000595	"" []	202553	\N	\N	EFO	1	EFO	erythrocyte	enucleate erythrocyte
CL:0000232	CL:0000595	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0000595	"" []	202554	\N	\N	EFO	1	EFO	erythrocyte	enucleate erythrocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000595	"" []	555458	\N	\N	EFO	2	EFO	erythroid lineage cell	enucleate erythrocyte
CL:0000081	CL:0000232	\N	"A cell found predominately in the blood." []	CL:0000595	"" []	555459	\N	\N	EFO	2	EFO	blood cell	enucleate erythrocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000595	"" []	555460	\N	\N	EFO	2	EFO	erythroid lineage cell	enucleate erythrocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000595	"" []	1138122	\N	\N	EFO	3	EFO	myeloid cell	enucleate erythrocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000595	"" []	1138123	\N	\N	EFO	3	EFO	hematopoietic cell	enucleate erythrocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000595	"" []	1138124	\N	\N	EFO	3	EFO	myeloid cell	enucleate erythrocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000595	"" []	2021207	\N	\N	EFO	4	EFO	hematopoietic cell	enucleate erythrocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000595	"" []	3175875	\N	\N	EFO	5	EFO	somatic cell	enucleate erythrocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000595	"" []	2021209	\N	\N	EFO	4	EFO	hematopoietic cell	enucleate erythrocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000595	"" []	3175874	\N	\N	EFO	5	EFO	cell type	enucleate erythrocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000595	"" []	4386626	\N	\N	EFO	6	EFO	material entity	enucleate erythrocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000595	"" []	5407796	\N	\N	EFO	7	EFO	experimental factor	enucleate erythrocyte
CL:0000611	\N	\N	"" []	CL:0000611	"" []	62999	\N	\N	EFO	0	EFO	eosinophil progenitor cell	eosinophil progenitor cell
CL:0000763	CL:0000611	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000611	"" []	202555	\N	\N	EFO	1	EFO	myeloid cell	eosinophil progenitor cell
CL:0002191	CL:0000611	\N	"" []	CL:0000611	"" []	202556	\N	\N	EFO	1	EFO	granulocytopoietic cell	eosinophil progenitor cell
CL:0002191	CL:0000611	\N	"" []	CL:0000611	"" []	202557	\N	\N	EFO	1	EFO	granulocytopoietic cell	eosinophil progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000611	"" []	555461	\N	\N	EFO	2	EFO	hematopoietic cell	eosinophil progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000611	"" []	555462	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	eosinophil progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000611	"" []	555463	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	eosinophil progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000611	"" []	1138125	\N	\N	EFO	3	EFO	somatic cell	eosinophil progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0000611	"" []	1138126	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	eosinophil progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0000611	"" []	1138127	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	eosinophil progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000611	"" []	2021210	\N	\N	EFO	4	EFO	hematopoietic cell	eosinophil progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000611	"" []	3175876	\N	\N	EFO	5	EFO	cell type	eosinophil progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000611	"" []	4386627	\N	\N	EFO	6	EFO	material entity	eosinophil progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000611	"" []	5407797	\N	\N	EFO	7	EFO	experimental factor	eosinophil progenitor cell
CL:0000612	\N	\N	"" []	CL:0000612	"" []	63000	\N	\N	EFO	0	EFO	eosinophilic myelocyte	eosinophilic myelocyte
CL:0000772	CL:0000612	\N	"" []	CL:0000612	"" []	202558	\N	\N	EFO	1	EFO	immature eosinophil	eosinophilic myelocyte
CL:0000772	CL:0000612	\N	"" []	CL:0000612	"" []	202559	\N	\N	EFO	1	EFO	immature eosinophil	eosinophilic myelocyte
CL:0002087	CL:0000612	\N	"" []	CL:0000612	"" []	202560	\N	\N	EFO	1	EFO	nongranular leukocyte	eosinophilic myelocyte
CL:0002193	CL:0000612	\N	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	CL:0000612	"" []	202561	\N	\N	EFO	1	EFO	myelocyte	eosinophilic myelocyte
CL:0002193	CL:0000612	\N	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	CL:0000612	"" []	202562	\N	\N	EFO	1	EFO	myelocyte	eosinophilic myelocyte
CL:0000771	CL:0000772	\N	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	CL:0000612	"" []	555464	\N	\N	EFO	2	EFO	eosinophil	eosinophilic myelocyte
CL:0000771	CL:0000772	\N	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	CL:0000612	"" []	555465	\N	\N	EFO	2	EFO	eosinophil	eosinophilic myelocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000612	"" []	555466	\N	\N	EFO	2	EFO	leukocyte	eosinophilic myelocyte
CL:0002191	CL:0002193	\N	"" []	CL:0000612	"" []	555467	\N	\N	EFO	2	EFO	granulocytopoietic cell	eosinophilic myelocyte
CL:0000763	CL:0002193	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000612	"" []	555468	\N	\N	EFO	2	EFO	myeloid cell	eosinophilic myelocyte
CL:0002191	CL:0002193	\N	"" []	CL:0000612	"" []	555469	\N	\N	EFO	2	EFO	granulocytopoietic cell	eosinophilic myelocyte
CL:0000094	CL:0000771	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000612	"" []	1138128	\N	\N	EFO	3	EFO	granulocyte	eosinophilic myelocyte
CL:0000094	CL:0000771	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000612	"" []	1138129	\N	\N	EFO	3	EFO	granulocyte	eosinophilic myelocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000612	"" []	4386630	\N	\N	EFO	6	EFO	hematopoietic cell	eosinophilic myelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000612	"" []	1138131	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	eosinophilic myelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000612	"" []	4386631	\N	\N	EFO	6	EFO	hematopoietic cell	eosinophilic myelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000612	"" []	1138133	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	eosinophilic myelocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000612	"" []	2021211	\N	\N	EFO	4	EFO	myeloid leukocyte	eosinophilic myelocyte
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000612	"" []	2021212	\N	\N	EFO	4	EFO	blood cell	eosinophilic myelocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000612	"" []	2021213	\N	\N	EFO	4	EFO	myeloid leukocyte	eosinophilic myelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000612	"" []	5028314	\N	\N	EFO	7	EFO	somatic cell	eosinophilic myelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000612	"" []	2021215	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	eosinophilic myelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000612	"" []	2021216	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	eosinophilic myelocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000612	"" []	3175877	\N	\N	EFO	5	EFO	leukocyte	eosinophilic myelocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000612	"" []	3175878	\N	\N	EFO	5	EFO	hematopoietic cell	eosinophilic myelocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000612	"" []	3175879	\N	\N	EFO	5	EFO	leukocyte	eosinophilic myelocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000612	"" []	3175880	\N	\N	EFO	5	EFO	myeloid cell	eosinophilic myelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000612	"" []	3175881	\N	\N	EFO	5	EFO	hematopoietic cell	eosinophilic myelocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000612	"" []	4386628	\N	\N	EFO	6	EFO	hematopoietic cell	eosinophilic myelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000612	"" []	5407798	\N	\N	EFO	7	EFO	cell type	eosinophilic myelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000612	"" []	5996483	\N	\N	EFO	8	EFO	material entity	eosinophilic myelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000612	"" []	6550311	\N	\N	EFO	9	EFO	experimental factor	eosinophilic myelocyte
CL:0000613	\N	\N	"" []	CL:0000613	"" []	63001	\N	\N	EFO	0	EFO	basophil progenitor cell	basophil progenitor cell
CL:0000763	CL:0000613	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000613	"" []	202563	\N	\N	EFO	1	EFO	myeloid cell	basophil progenitor cell
CL:0002191	CL:0000613	\N	"" []	CL:0000613	"" []	202564	\N	\N	EFO	1	EFO	granulocytopoietic cell	basophil progenitor cell
CL:0002191	CL:0000613	\N	"" []	CL:0000613	"" []	202565	\N	\N	EFO	1	EFO	granulocytopoietic cell	basophil progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000613	"" []	555470	\N	\N	EFO	2	EFO	hematopoietic cell	basophil progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000613	"" []	555471	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	basophil progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000613	"" []	555472	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	basophil progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000613	"" []	1138134	\N	\N	EFO	3	EFO	somatic cell	basophil progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0000613	"" []	1138135	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	basophil progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0000613	"" []	1138136	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	basophil progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000613	"" []	2021217	\N	\N	EFO	4	EFO	hematopoietic cell	basophil progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000613	"" []	3175882	\N	\N	EFO	5	EFO	cell type	basophil progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000613	"" []	4386633	\N	\N	EFO	6	EFO	material entity	basophil progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000613	"" []	5407800	\N	\N	EFO	7	EFO	experimental factor	basophil progenitor cell
CL:0000614	\N	\N	"" []	CL:0000614	"" []	63002	\N	\N	EFO	0	EFO	basophilic myelocyte	basophilic myelocyte
CL:0000768	CL:0000614	\N	"" []	CL:0000614	"" []	202566	\N	\N	EFO	1	EFO	immature basophil	basophilic myelocyte
CL:0000768	CL:0000614	\N	"" []	CL:0000614	"" []	202567	\N	\N	EFO	1	EFO	immature basophil	basophilic myelocyte
CL:0002087	CL:0000614	\N	"" []	CL:0000614	"" []	202568	\N	\N	EFO	1	EFO	nongranular leukocyte	basophilic myelocyte
CL:0000767	CL:0000768	\N	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	CL:0000614	"" []	555473	\N	\N	EFO	2	EFO	basophil	basophilic myelocyte
CL:0000767	CL:0000768	\N	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	CL:0000614	"" []	555474	\N	\N	EFO	2	EFO	basophil	basophilic myelocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000614	"" []	555475	\N	\N	EFO	2	EFO	leukocyte	basophilic myelocyte
CL:0000094	CL:0000767	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000614	"" []	1138137	\N	\N	EFO	3	EFO	granulocyte	basophilic myelocyte
CL:0000094	CL:0000767	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000614	"" []	1138138	\N	\N	EFO	3	EFO	granulocyte	basophilic myelocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000614	"" []	4386636	\N	\N	EFO	6	EFO	hematopoietic cell	basophilic myelocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000614	"" []	2021218	\N	\N	EFO	4	EFO	myeloid leukocyte	basophilic myelocyte
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000614	"" []	2021219	\N	\N	EFO	4	EFO	blood cell	basophilic myelocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000614	"" []	2021220	\N	\N	EFO	4	EFO	myeloid leukocyte	basophilic myelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000614	"" []	5028315	\N	\N	EFO	7	EFO	somatic cell	basophilic myelocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000614	"" []	3175883	\N	\N	EFO	5	EFO	leukocyte	basophilic myelocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000614	"" []	3175884	\N	\N	EFO	5	EFO	hematopoietic cell	basophilic myelocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000614	"" []	3175885	\N	\N	EFO	5	EFO	leukocyte	basophilic myelocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000614	"" []	3175886	\N	\N	EFO	5	EFO	myeloid cell	basophilic myelocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000614	"" []	4386634	\N	\N	EFO	6	EFO	hematopoietic cell	basophilic myelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000614	"" []	4386637	\N	\N	EFO	6	EFO	hematopoietic cell	basophilic myelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000614	"" []	5407801	\N	\N	EFO	7	EFO	cell type	basophilic myelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000614	"" []	6146838	\N	\N	EFO	8	EFO	material entity	basophilic myelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000614	"" []	6631472	\N	\N	EFO	9	EFO	experimental factor	basophilic myelocyte
CL:0000617	\N	\N	"A neuron that uses GABA as a vesicular neurotransmitter" []	CL:0000617	"A neuron that uses GABA as a vesicular neurotransmitter" []	63003	\N	\N	EFO	0	EFO	GABAergic neuron	GABAergic neuron
CL:0000161	\N	\N	"" []	CL:0000617	"A neuron that uses GABA as a vesicular neurotransmitter" []	194168	\N	\N	EFO	0	EFO	acid secreting cell	GABAergic neuron
CL:0000540	CL:0000617	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000617	"A neuron that uses GABA as a vesicular neurotransmitter" []	202569	\N	\N	EFO	1	EFO	neuron	GABAergic neuron
CL:0000540	CL:0000617	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000617	"A neuron that uses GABA as a vesicular neurotransmitter" []	202570	\N	\N	EFO	1	EFO	neuron	GABAergic neuron
EFO:0002963	CL:0000540	\N	"" []	CL:0000617	"A neuron that uses GABA as a vesicular neurotransmitter" []	555476	\N	\N	EFO	2	EFO	nervous system cell	GABAergic neuron
CL:0002319	CL:0000540	\N	"" []	CL:0000617	"A neuron that uses GABA as a vesicular neurotransmitter" []	555477	\N	\N	EFO	2	EFO	neural cell	GABAergic neuron
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000617	"A neuron that uses GABA as a vesicular neurotransmitter" []	1138140	\N	\N	EFO	3	EFO	cell type	GABAergic neuron
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000617	"A neuron that uses GABA as a vesicular neurotransmitter" []	1138141	\N	\N	EFO	3	EFO	somatic cell	GABAergic neuron
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000617	"A neuron that uses GABA as a vesicular neurotransmitter" []	2021222	\N	\N	EFO	4	EFO	material entity	GABAergic neuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000617	"A neuron that uses GABA as a vesicular neurotransmitter" []	3175887	\N	\N	EFO	5	EFO	experimental factor	GABAergic neuron
CL:0000622	\N	\N	"A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." []	CL:0000622	"A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." []	63004	\N	\N	EFO	0	EFO	acinar cell	acinar cell
CL:0000150	\N	\N	"A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules." [GOC:tfm]	CL:0000622	"A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." []	194169	\N	\N	EFO	0	EFO	glandular epithelial cell	acinar cell
CL:0000154	\N	\N	"" []	CL:0000622	"A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." []	194170	\N	\N	EFO	0	EFO	protein secreting cell	acinar cell
CL:0000151	CL:0000622	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000622	"A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." []	202571	\N	\N	EFO	1	EFO	secretory cell	acinar cell
EFO:0002966	CL:0000622	\N	"" []	CL:0000622	"A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." []	202572	\N	\N	EFO	1	EFO	pancreatic cell	acinar cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000622	"A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." []	555478	\N	\N	EFO	2	EFO	cell type	acinar cell
EFO:0000324	EFO:0002966	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000622	"A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." []	555479	\N	\N	EFO	2	EFO	cell type	acinar cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000622	"A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." []	1138142	\N	\N	EFO	3	EFO	material entity	acinar cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000622	"A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." []	2021223	\N	\N	EFO	4	EFO	experimental factor	acinar cell
CL:0000623	\N	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0000623	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	63005	\N	\N	EFO	0	EFO	natural killer cell	natural killer cell
CL:0001067	\N	\N	"An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines." [GOC:add, GOC:dsd, PMID:23348417]	CL:0000623	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	194171	\N	\N	EFO	0	EFO	group 1 innate lymphoid cell	natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000623	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	202573	\N	\N	EFO	1	EFO	lymphocyte	natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000623	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	555480	\N	\N	EFO	2	EFO	leukocyte	natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000623	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	1138143	\N	\N	EFO	3	EFO	hematopoietic cell	natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000623	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	2021224	\N	\N	EFO	4	EFO	cell type	natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000623	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	3175888	\N	\N	EFO	5	EFO	material entity	natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000623	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	4386638	\N	\N	EFO	6	EFO	experimental factor	natural killer cell
CL:0000624	\N	\N	"" []	CL:0000624	"" []	63006	\N	\N	EFO	0	EFO	CD4-positive, alpha-beta T cell	CD4-positive, alpha-beta T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000624	"" []	202574	\N	\N	EFO	1	EFO	mature alpha-beta T cell	CD4-positive, alpha-beta T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000624	"" []	202575	\N	\N	EFO	1	EFO	mature alpha-beta T cell	CD4-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000624	"" []	555481	\N	\N	EFO	2	EFO	alpha-beta T cell	CD4-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000624	"" []	555482	\N	\N	EFO	2	EFO	alpha-beta T cell	CD4-positive, alpha-beta T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000624	"" []	555483	\N	\N	EFO	2	EFO	mature T cell	CD4-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000624	"" []	1138144	\N	\N	EFO	3	EFO	T cell	CD4-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000624	"" []	1138145	\N	\N	EFO	3	EFO	T cell	CD4-positive, alpha-beta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000624	"" []	1138146	\N	\N	EFO	3	EFO	T cell	CD4-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000624	"" []	2021225	\N	\N	EFO	4	EFO	lymphocyte	CD4-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000624	"" []	2021226	\N	\N	EFO	4	EFO	lymphocyte	CD4-positive, alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000624	"" []	3175889	\N	\N	EFO	5	EFO	leukocyte	CD4-positive, alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000624	"" []	3175890	\N	\N	EFO	5	EFO	nongranular leukocyte	CD4-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000624	"" []	4386639	\N	\N	EFO	6	EFO	hematopoietic cell	CD4-positive, alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000624	"" []	4386640	\N	\N	EFO	6	EFO	leukocyte	CD4-positive, alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000624	"" []	5407802	\N	\N	EFO	7	EFO	cell type	CD4-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000624	"" []	5407803	\N	\N	EFO	7	EFO	hematopoietic cell	CD4-positive, alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000624	"" []	6146839	\N	\N	EFO	8	EFO	material entity	CD4-positive, alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000624	"" []	6146840	\N	\N	EFO	8	EFO	somatic cell	CD4-positive, alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000624	"" []	6631473	\N	\N	EFO	9	EFO	experimental factor	CD4-positive, alpha-beta T cell
CL:0000625	\N	\N	"" []	CL:0000625	"" []	63007	\N	\N	EFO	0	EFO	CD8-positive, alpha-beta T cell	CD8-positive, alpha-beta T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000625	"" []	202576	\N	\N	EFO	1	EFO	mature alpha-beta T cell	CD8-positive, alpha-beta T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000625	"" []	202577	\N	\N	EFO	1	EFO	mature alpha-beta T cell	CD8-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000625	"" []	555484	\N	\N	EFO	2	EFO	alpha-beta T cell	CD8-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000625	"" []	555485	\N	\N	EFO	2	EFO	alpha-beta T cell	CD8-positive, alpha-beta T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000625	"" []	555486	\N	\N	EFO	2	EFO	mature T cell	CD8-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000625	"" []	1138147	\N	\N	EFO	3	EFO	T cell	CD8-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000625	"" []	1138148	\N	\N	EFO	3	EFO	T cell	CD8-positive, alpha-beta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000625	"" []	1138149	\N	\N	EFO	3	EFO	T cell	CD8-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000625	"" []	2021227	\N	\N	EFO	4	EFO	lymphocyte	CD8-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000625	"" []	2021228	\N	\N	EFO	4	EFO	lymphocyte	CD8-positive, alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000625	"" []	3175891	\N	\N	EFO	5	EFO	leukocyte	CD8-positive, alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000625	"" []	3175892	\N	\N	EFO	5	EFO	nongranular leukocyte	CD8-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000625	"" []	4386641	\N	\N	EFO	6	EFO	hematopoietic cell	CD8-positive, alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000625	"" []	4386642	\N	\N	EFO	6	EFO	leukocyte	CD8-positive, alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000625	"" []	5407804	\N	\N	EFO	7	EFO	cell type	CD8-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000625	"" []	5407805	\N	\N	EFO	7	EFO	hematopoietic cell	CD8-positive, alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000625	"" []	6146841	\N	\N	EFO	8	EFO	material entity	CD8-positive, alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000625	"" []	6146842	\N	\N	EFO	8	EFO	somatic cell	CD8-positive, alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000625	"" []	6631474	\N	\N	EFO	9	EFO	experimental factor	CD8-positive, alpha-beta T cell
CL:0000644	\N	\N	"Type of radial astrocyte in the cerebellar cortex that have their cell bodies in the Purkinje cell layer and processes that extend into the molecular layer, terminating with bulbous endfeet at the pial surface. Bergmann glia express high densities of glutamate transporters that limit diffusion of the neurotransmitter glutamate during its release from synaptic terminals. Besides their role in early development of the cerebellum, Bergmann glia are also required for the pruning or addition of synapses. [ GOC:tfm http://www.neurolex.org/wiki/Category:Bergmann_Glial_Cell ] " []	CL:0000644	"Type of radial astrocyte in the cerebellar cortex that have their cell bodies in the Purkinje cell layer and processes that extend into the molecular layer, terminating with bulbous endfeet at the pial surface. Bergmann glia express high densities of glutamate transporters that limit diffusion of the neurotransmitter glutamate during its release from synaptic terminals. Besides their role in early development of the cerebellum, Bergmann glia are also required for the pruning or addition of synapses. [ GOC:tfm http://www.neurolex.org/wiki/Category:Bergmann_Glial_Cell ] " []	63010	\N	\N	EFO	0	EFO	Bergmann glial cell	Bergmann glial cell
CL:0000127	CL:0000644	\N	"cells) are irregularly shaped with many long processes, including those with \\"end feet\\" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and" []	CL:0000644	"Type of radial astrocyte in the cerebellar cortex that have their cell bodies in the Purkinje cell layer and processes that extend into the molecular layer, terminating with bulbous endfeet at the pial surface. Bergmann glia express high densities of glutamate transporters that limit diffusion of the neurotransmitter glutamate during its release from synaptic terminals. Besides their role in early development of the cerebellum, Bergmann glia are also required for the pruning or addition of synapses. [ GOC:tfm http://www.neurolex.org/wiki/Category:Bergmann_Glial_Cell ] " []	202578	\N	\N	EFO	1	EFO	astrocyte	Bergmann glial cell
CL:0000127	CL:0000644	\N	"cells) are irregularly shaped with many long processes, including those with \\"end feet\\" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and" []	CL:0000644	"Type of radial astrocyte in the cerebellar cortex that have their cell bodies in the Purkinje cell layer and processes that extend into the molecular layer, terminating with bulbous endfeet at the pial surface. Bergmann glia express high densities of glutamate transporters that limit diffusion of the neurotransmitter glutamate during its release from synaptic terminals. Besides their role in early development of the cerebellum, Bergmann glia are also required for the pruning or addition of synapses. [ GOC:tfm http://www.neurolex.org/wiki/Category:Bergmann_Glial_Cell ] " []	202579	\N	\N	EFO	1	EFO	astrocyte	Bergmann glial cell
CL:0000125	CL:0000127	\N	"The delicate network of branched cells and fibers that supports the tissue of the central nervous system." []	CL:0000644	"Type of radial astrocyte in the cerebellar cortex that have their cell bodies in the Purkinje cell layer and processes that extend into the molecular layer, terminating with bulbous endfeet at the pial surface. Bergmann glia express high densities of glutamate transporters that limit diffusion of the neurotransmitter glutamate during its release from synaptic terminals. Besides their role in early development of the cerebellum, Bergmann glia are also required for the pruning or addition of synapses. [ GOC:tfm http://www.neurolex.org/wiki/Category:Bergmann_Glial_Cell ] " []	555487	\N	\N	EFO	2	EFO	glial cell	Bergmann glial cell
EFO:0002963	CL:0000125	\N	"" []	CL:0000644	"Type of radial astrocyte in the cerebellar cortex that have their cell bodies in the Purkinje cell layer and processes that extend into the molecular layer, terminating with bulbous endfeet at the pial surface. Bergmann glia express high densities of glutamate transporters that limit diffusion of the neurotransmitter glutamate during its release from synaptic terminals. Besides their role in early development of the cerebellum, Bergmann glia are also required for the pruning or addition of synapses. [ GOC:tfm http://www.neurolex.org/wiki/Category:Bergmann_Glial_Cell ] " []	1138150	\N	\N	EFO	3	EFO	nervous system cell	Bergmann glial cell
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000644	"Type of radial astrocyte in the cerebellar cortex that have their cell bodies in the Purkinje cell layer and processes that extend into the molecular layer, terminating with bulbous endfeet at the pial surface. Bergmann glia express high densities of glutamate transporters that limit diffusion of the neurotransmitter glutamate during its release from synaptic terminals. Besides their role in early development of the cerebellum, Bergmann glia are also required for the pruning or addition of synapses. [ GOC:tfm http://www.neurolex.org/wiki/Category:Bergmann_Glial_Cell ] " []	2021229	\N	\N	EFO	4	EFO	cell type	Bergmann glial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000644	"Type of radial astrocyte in the cerebellar cortex that have their cell bodies in the Purkinje cell layer and processes that extend into the molecular layer, terminating with bulbous endfeet at the pial surface. Bergmann glia express high densities of glutamate transporters that limit diffusion of the neurotransmitter glutamate during its release from synaptic terminals. Besides their role in early development of the cerebellum, Bergmann glia are also required for the pruning or addition of synapses. [ GOC:tfm http://www.neurolex.org/wiki/Category:Bergmann_Glial_Cell ] " []	3175893	\N	\N	EFO	5	EFO	material entity	Bergmann glial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000644	"Type of radial astrocyte in the cerebellar cortex that have their cell bodies in the Purkinje cell layer and processes that extend into the molecular layer, terminating with bulbous endfeet at the pial surface. Bergmann glia express high densities of glutamate transporters that limit diffusion of the neurotransmitter glutamate during its release from synaptic terminals. Besides their role in early development of the cerebellum, Bergmann glia are also required for the pruning or addition of synapses. [ GOC:tfm http://www.neurolex.org/wiki/Category:Bergmann_Glial_Cell ] " []	4386643	\N	\N	EFO	6	EFO	experimental factor	Bergmann glial cell
CL:0000646	\N	\N	"Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament." []	CL:0000646	"Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament." []	63011	\N	\N	EFO	0	EFO	basal cell	basal cell
CL:0000036	\N	\N	"" []	CL:0000646	"Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament." []	194178	\N	\N	EFO	0	EFO	epithelial fate stem cell	basal cell
CL:0000034	CL:0000646	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0000646	"Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament." []	202580	\N	\N	EFO	1	EFO	stem cell	basal cell
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000646	"Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament." []	555488	\N	\N	EFO	2	EFO	cell type	basal cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000646	"Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament." []	1138151	\N	\N	EFO	3	EFO	material entity	basal cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000646	"Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament." []	2021230	\N	\N	EFO	4	EFO	experimental factor	basal cell
CL:0000647	\N	\N	"" []	CL:0000647	"" []	63012	\N	\N	EFO	0	EFO	multinucleated giant cell	multinucleated giant cell
CL:0000228	\N	\N	"A cell with more than one nucleus." [FB:ma]	CL:0000647	"" []	194179	\N	\N	EFO	0	EFO	multinucleate cell	multinucleated giant cell
CL:0000766	CL:0000647	\N	"" []	CL:0000647	"" []	202581	\N	\N	EFO	1	EFO	myeloid leukocyte	multinucleated giant cell
CL:0000766	CL:0000647	\N	"" []	CL:0000647	"" []	202582	\N	\N	EFO	1	EFO	myeloid leukocyte	multinucleated giant cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000647	"" []	555489	\N	\N	EFO	2	EFO	leukocyte	multinucleated giant cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000647	"" []	555490	\N	\N	EFO	2	EFO	leukocyte	multinucleated giant cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000647	"" []	555491	\N	\N	EFO	2	EFO	myeloid cell	multinucleated giant cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000647	"" []	1138152	\N	\N	EFO	3	EFO	hematopoietic cell	multinucleated giant cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000647	"" []	1138153	\N	\N	EFO	3	EFO	hematopoietic cell	multinucleated giant cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000647	"" []	1138154	\N	\N	EFO	3	EFO	hematopoietic cell	multinucleated giant cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000647	"" []	2021231	\N	\N	EFO	4	EFO	cell type	multinucleated giant cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000647	"" []	2021232	\N	\N	EFO	4	EFO	somatic cell	multinucleated giant cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000647	"" []	3175894	\N	\N	EFO	5	EFO	material entity	multinucleated giant cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000647	"" []	4386644	\N	\N	EFO	6	EFO	experimental factor	multinucleated giant cell
CL:0000669	\N	\N	"An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells." []	CL:0000669	"An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells." []	63013	\N	\N	EFO	0	EFO	pericyte	pericyte
CL:0000183	\N	\N	"A cell whose primary function is to shorten." [FB:ma]	CL:0000669	"An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells." []	194180	\N	\N	EFO	0	EFO	contractile cell	pericyte
CL:0000630	\N	\N	"A cell whose primary function is to support other cell types." [FB:ma, GOC:tfm]	CL:0000669	"An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells." []	194181	\N	\N	EFO	0	EFO	supportive cell	pericyte
CL:0002320	\N	\N	"A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone." [GOC:tfm, ISBN:0618947256]	CL:0000669	"An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells." []	194182	\N	\N	EFO	0	EFO	connective tissue cell	pericyte
CL:0000988	CL:0000669	\N	"A cell of a hematopoietic lineage." []	CL:0000669	"An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells." []	202583	\N	\N	EFO	1	EFO	hematopoietic cell	pericyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000669	"An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells." []	555492	\N	\N	EFO	2	EFO	cell type	pericyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000669	"An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells." []	1138155	\N	\N	EFO	3	EFO	material entity	pericyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000669	"An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells." []	2021233	\N	\N	EFO	4	EFO	experimental factor	pericyte
CL:0000670	\N	\N	"A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells." []	CL:0000670	"A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells." []	63014	\N	\N	EFO	0	EFO	primordial germ cell	primordial germ cell
CL:0000039	\N	\N	"A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring." [GOC:tfm, ISBN:0721662544]	CL:0000670	"A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells." []	194183	\N	ubprop_upper_level	EFO	0	EFO	germ line cell	primordial germ cell
CL:0000219	\N	\N	"A cell that moves by its own activities." [FB:ma]	CL:0000670	"A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells." []	194184	\N	\N	EFO	0	EFO	motile cell	primordial germ cell
CL:0000586	CL:0000670	\N	"The reproductive cell in multicellular organisms." []	CL:0000670	"A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells." []	202584	\N	\N	EFO	1	EFO	germ cell	primordial germ cell
EFO:0002955	CL:0000586	\N	"" []	CL:0000670	"A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells." []	555493	\N	\N	EFO	2	EFO	reproductive system cell	primordial germ cell
EFO:0000324	EFO:0002955	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000670	"A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells." []	1138156	\N	\N	EFO	3	EFO	cell type	primordial germ cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000670	"A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells." []	2021234	\N	\N	EFO	4	EFO	material entity	primordial germ cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000670	"A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells." []	3175895	\N	\N	EFO	5	EFO	experimental factor	primordial germ cell
CL:0000679	\N	\N	"" []	CL:0000679	"" []	63015	\N	\N	EFO	0	EFO	glutamatergic neuron	glutamatergic neuron
CL:0000161	\N	\N	"" []	CL:0000679	"" []	194185	\N	\N	EFO	0	EFO	acid secreting cell	glutamatergic neuron
CL:0000540	CL:0000679	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000679	"" []	202585	\N	\N	EFO	1	EFO	neuron	glutamatergic neuron
CL:0000540	CL:0000679	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000679	"" []	202586	\N	\N	EFO	1	EFO	neuron	glutamatergic neuron
EFO:0002963	CL:0000540	\N	"" []	CL:0000679	"" []	555494	\N	\N	EFO	2	EFO	nervous system cell	glutamatergic neuron
CL:0002319	CL:0000540	\N	"" []	CL:0000679	"" []	555495	\N	\N	EFO	2	EFO	neural cell	glutamatergic neuron
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000679	"" []	1138157	\N	\N	EFO	3	EFO	cell type	glutamatergic neuron
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000679	"" []	1138158	\N	\N	EFO	3	EFO	somatic cell	glutamatergic neuron
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000679	"" []	2021235	\N	\N	EFO	4	EFO	material entity	glutamatergic neuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000679	"" []	3175896	\N	\N	EFO	5	EFO	experimental factor	glutamatergic neuron
CL:0000700	\N	\N	"A neuron that releases dopamine as a neurotransmitter." []	CL:0000700	"A neuron that releases dopamine as a neurotransmitter." []	63016	\N	\N	EFO	0	EFO	dopaminergic neuron	dopaminergic neuron
CL:0000151	CL:0000700	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000700	"A neuron that releases dopamine as a neurotransmitter." []	202587	\N	\N	EFO	1	EFO	secretory cell	dopaminergic neuron
CL:0000540	CL:0000700	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000700	"A neuron that releases dopamine as a neurotransmitter." []	202588	\N	\N	EFO	1	EFO	neuron	dopaminergic neuron
CL:0000540	CL:0000700	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0000700	"A neuron that releases dopamine as a neurotransmitter." []	202589	\N	\N	EFO	1	EFO	neuron	dopaminergic neuron
EFO:0002963	CL:0000540	\N	"" []	CL:0000700	"A neuron that releases dopamine as a neurotransmitter." []	555496	\N	\N	EFO	2	EFO	nervous system cell	dopaminergic neuron
CL:0002319	CL:0000540	\N	"" []	CL:0000700	"A neuron that releases dopamine as a neurotransmitter." []	555497	\N	\N	EFO	2	EFO	neural cell	dopaminergic neuron
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000700	"A neuron that releases dopamine as a neurotransmitter." []	1138159	\N	\N	EFO	3	EFO	cell type	dopaminergic neuron
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000700	"A neuron that releases dopamine as a neurotransmitter." []	1138160	\N	\N	EFO	3	EFO	somatic cell	dopaminergic neuron
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000700	"A neuron that releases dopamine as a neurotransmitter." []	2021236	\N	\N	EFO	4	EFO	material entity	dopaminergic neuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000700	"A neuron that releases dopamine as a neurotransmitter." []	3175897	\N	\N	EFO	5	EFO	experimental factor	dopaminergic neuron
CL:0000738	\N	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000738	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	63019	\N	\N	EFO	0	EFO	leukocyte	leukocyte
CL:0000219	\N	\N	"A cell that moves by its own activities." [FB:ma]	CL:0000738	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	194193	\N	\N	EFO	0	EFO	motile cell	leukocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000738	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	202590	\N	\N	EFO	1	EFO	hematopoietic cell	leukocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000738	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	202591	\N	\N	EFO	1	EFO	hematopoietic cell	leukocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000738	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	555498	\N	\N	EFO	2	EFO	cell type	leukocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000738	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	555499	\N	\N	EFO	2	EFO	somatic cell	leukocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000738	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	1138161	\N	\N	EFO	3	EFO	material entity	leukocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000738	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	2021237	\N	\N	EFO	4	EFO	experimental factor	leukocyte
CL:0000746	\N	\N	"Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH)." []	CL:0000746	"Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH)." []	63020	\N	\N	EFO	0	EFO	cardiac muscle cell	cardiac muscle cell
CL:0000737	\N	\N	"Muscle cell which has as its direct parts myofilaments organized into sarcomeres." [GOC:tfm, ISBN:0721662544]	CL:0000746	"Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH)." []	194194	\N	\N	EFO	0	EFO	striated muscle cell	cardiac muscle cell
CL:0002494	\N	\N	"A cell located in the heart, including both muscle and non muscle cells." [GOC:tfm]	CL:0000746	"Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH)." []	194195	\N	\N	EFO	0	EFO	cardiocyte	cardiac muscle cell
CL:0000187	CL:0000746	\N	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	CL:0000746	"Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH)." []	202592	\N	\N	EFO	1	EFO	muscle cell	cardiac muscle cell
EFO:0002956	CL:0000187	\N	"" []	CL:0000746	"Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH)." []	555500	\N	\N	EFO	2	EFO	musculo-skeletal system cell	cardiac muscle cell
EFO:0000324	EFO:0002956	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000746	"Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH)." []	1138162	\N	\N	EFO	3	EFO	cell type	cardiac muscle cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000746	"Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH)." []	2021238	\N	\N	EFO	4	EFO	material entity	cardiac muscle cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000746	"Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH)." []	3175898	\N	\N	EFO	5	EFO	experimental factor	cardiac muscle cell
CL:0000762	\N	\N	"" []	CL:0000762	"" []	63021	\N	\N	EFO	0	EFO	nucleated thrombocyte	nucleated thrombocyte
CL:0000226	\N	\N	"A cell with a single nucleus." [FB:ma, GOC:tfm]	CL:0000762	"" []	194196	\N	\N	EFO	0	EFO	single nucleate cell	nucleated thrombocyte
CL:0000763	CL:0000762	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000762	"" []	202593	\N	\N	EFO	1	EFO	myeloid cell	nucleated thrombocyte
CL:0000763	CL:0000762	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000762	"" []	202594	\N	\N	EFO	1	EFO	myeloid cell	nucleated thrombocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000762	"" []	555501	\N	\N	EFO	2	EFO	hematopoietic cell	nucleated thrombocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000762	"" []	555502	\N	\N	EFO	2	EFO	hematopoietic cell	nucleated thrombocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000762	"" []	1138163	\N	\N	EFO	3	EFO	cell type	nucleated thrombocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000762	"" []	1138164	\N	\N	EFO	3	EFO	somatic cell	nucleated thrombocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000762	"" []	2021239	\N	\N	EFO	4	EFO	material entity	nucleated thrombocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000762	"" []	3175899	\N	\N	EFO	5	EFO	experimental factor	nucleated thrombocyte
CL:0000763	\N	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000763	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	63022	\N	\N	EFO	0	EFO	myeloid cell	myeloid cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000763	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	202595	\N	\N	EFO	1	EFO	hematopoietic cell	myeloid cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000763	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	202596	\N	\N	EFO	1	EFO	hematopoietic cell	myeloid cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000763	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	555503	\N	\N	EFO	2	EFO	cell type	myeloid cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000763	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	555504	\N	\N	EFO	2	EFO	somatic cell	myeloid cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000763	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	1138165	\N	\N	EFO	3	EFO	material entity	myeloid cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000763	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	2021240	\N	\N	EFO	4	EFO	experimental factor	myeloid cell
CL:0000764	\N	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000764	"A immature or mature cell in the lineage leading to and including erythrocytes." []	63023	\N	\N	EFO	0	EFO	erythroid lineage cell	erythroid lineage cell
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000764	"A immature or mature cell in the lineage leading to and including erythrocytes." []	202597	\N	\N	EFO	1	EFO	myeloid cell	erythroid lineage cell
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000764	"A immature or mature cell in the lineage leading to and including erythrocytes." []	202598	\N	\N	EFO	1	EFO	myeloid cell	erythroid lineage cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000764	"A immature or mature cell in the lineage leading to and including erythrocytes." []	555505	\N	\N	EFO	2	EFO	hematopoietic cell	erythroid lineage cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000764	"A immature or mature cell in the lineage leading to and including erythrocytes." []	555506	\N	\N	EFO	2	EFO	hematopoietic cell	erythroid lineage cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000764	"A immature or mature cell in the lineage leading to and including erythrocytes." []	1138166	\N	\N	EFO	3	EFO	cell type	erythroid lineage cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000764	"A immature or mature cell in the lineage leading to and including erythrocytes." []	1138167	\N	\N	EFO	3	EFO	somatic cell	erythroid lineage cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000764	"A immature or mature cell in the lineage leading to and including erythrocytes." []	2021241	\N	\N	EFO	4	EFO	material entity	erythroid lineage cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000764	"A immature or mature cell in the lineage leading to and including erythrocytes." []	3175900	\N	\N	EFO	5	EFO	experimental factor	erythroid lineage cell
CL:0000765	\N	\N	"A nucleated precursor of an erythrocyte." []	CL:0000765	"A nucleated precursor of an erythrocyte." []	63024	\N	\N	EFO	0	EFO	erythroblast	erythroblast
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0000765	"A nucleated precursor of an erythrocyte." []	194197	\N	\N	EFO	0	EFO	nucleate cell	erythroblast
CL:0011115	\N	\N	"A cell that, by division or terminal differentiation, can give rise to other cell types." [GOC:dos]	CL:0000765	"A nucleated precursor of an erythrocyte." []	194198	\N	\N	EFO	0	EFO	precursor cell	erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000765	"A nucleated precursor of an erythrocyte." []	202599	\N	\N	EFO	1	EFO	erythroid lineage cell	erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0000765	"A nucleated precursor of an erythrocyte." []	202600	\N	\N	EFO	1	EFO	erythroid lineage cell	erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000765	"A nucleated precursor of an erythrocyte." []	555507	\N	\N	EFO	2	EFO	myeloid cell	erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000765	"A nucleated precursor of an erythrocyte." []	555508	\N	\N	EFO	2	EFO	myeloid cell	erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000765	"A nucleated precursor of an erythrocyte." []	1138168	\N	\N	EFO	3	EFO	hematopoietic cell	erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000765	"A nucleated precursor of an erythrocyte." []	1138169	\N	\N	EFO	3	EFO	hematopoietic cell	erythroblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000765	"A nucleated precursor of an erythrocyte." []	2021242	\N	\N	EFO	4	EFO	cell type	erythroblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000765	"A nucleated precursor of an erythrocyte." []	2021243	\N	\N	EFO	4	EFO	somatic cell	erythroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000765	"A nucleated precursor of an erythrocyte." []	3175901	\N	\N	EFO	5	EFO	material entity	erythroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000765	"A nucleated precursor of an erythrocyte." []	4386645	\N	\N	EFO	6	EFO	experimental factor	erythroblast
CL:0000766	\N	\N	"" []	CL:0000766	"" []	63025	\N	\N	EFO	0	EFO	myeloid leukocyte	myeloid leukocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000766	"" []	202601	\N	\N	EFO	1	EFO	leukocyte	myeloid leukocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000766	"" []	202602	\N	\N	EFO	1	EFO	leukocyte	myeloid leukocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000766	"" []	202603	\N	\N	EFO	1	EFO	myeloid cell	myeloid leukocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000766	"" []	555509	\N	\N	EFO	2	EFO	hematopoietic cell	myeloid leukocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000766	"" []	555510	\N	\N	EFO	2	EFO	hematopoietic cell	myeloid leukocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000766	"" []	555511	\N	\N	EFO	2	EFO	hematopoietic cell	myeloid leukocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000766	"" []	1138170	\N	\N	EFO	3	EFO	cell type	myeloid leukocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000766	"" []	1138171	\N	\N	EFO	3	EFO	somatic cell	myeloid leukocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000766	"" []	2021244	\N	\N	EFO	4	EFO	material entity	myeloid leukocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000766	"" []	3175902	\N	\N	EFO	5	EFO	experimental factor	myeloid leukocyte
CL:0000767	\N	\N	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	63026	\N	\N	EFO	0	EFO	basophil	basophil
CL:0000094	CL:0000767	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	202604	\N	\N	EFO	1	EFO	granulocyte	basophil
CL:0000094	CL:0000767	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	202605	\N	\N	EFO	1	EFO	granulocyte	basophil
CL:0000766	CL:0000094	\N	"" []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	555512	\N	\N	EFO	2	EFO	myeloid leukocyte	basophil
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	555513	\N	\N	EFO	2	EFO	blood cell	basophil
CL:0000766	CL:0000094	\N	"" []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	555514	\N	\N	EFO	2	EFO	myeloid leukocyte	basophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	1138172	\N	\N	EFO	3	EFO	leukocyte	basophil
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	1138173	\N	\N	EFO	3	EFO	hematopoietic cell	basophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	1138174	\N	\N	EFO	3	EFO	leukocyte	basophil
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	1138175	\N	\N	EFO	3	EFO	myeloid cell	basophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	2021245	\N	\N	EFO	4	EFO	hematopoietic cell	basophil
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	3175904	\N	\N	EFO	5	EFO	somatic cell	basophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	2021247	\N	\N	EFO	4	EFO	hematopoietic cell	basophil
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	2021248	\N	\N	EFO	4	EFO	hematopoietic cell	basophil
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	3175903	\N	\N	EFO	5	EFO	cell type	basophil
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	4386646	\N	\N	EFO	6	EFO	material entity	basophil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000767	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	5407806	\N	\N	EFO	7	EFO	experimental factor	basophil
CL:0000768	\N	\N	"" []	CL:0000768	"" []	63027	\N	\N	EFO	0	EFO	immature basophil	immature basophil
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0000768	"" []	194199	\N	\N	EFO	0	EFO	nucleate cell	immature basophil
CL:0000767	CL:0000768	\N	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	CL:0000768	"" []	202606	\N	\N	EFO	1	EFO	basophil	immature basophil
CL:0000767	CL:0000768	\N	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	CL:0000768	"" []	202607	\N	\N	EFO	1	EFO	basophil	immature basophil
CL:0000094	CL:0000767	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000768	"" []	555515	\N	\N	EFO	2	EFO	granulocyte	immature basophil
CL:0000094	CL:0000767	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000768	"" []	555516	\N	\N	EFO	2	EFO	granulocyte	immature basophil
CL:0000766	CL:0000094	\N	"" []	CL:0000768	"" []	1138176	\N	\N	EFO	3	EFO	myeloid leukocyte	immature basophil
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000768	"" []	1138177	\N	\N	EFO	3	EFO	blood cell	immature basophil
CL:0000766	CL:0000094	\N	"" []	CL:0000768	"" []	1138178	\N	\N	EFO	3	EFO	myeloid leukocyte	immature basophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000768	"" []	2021249	\N	\N	EFO	4	EFO	leukocyte	immature basophil
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000768	"" []	2021250	\N	\N	EFO	4	EFO	hematopoietic cell	immature basophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000768	"" []	2021251	\N	\N	EFO	4	EFO	leukocyte	immature basophil
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000768	"" []	2021252	\N	\N	EFO	4	EFO	myeloid cell	immature basophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000768	"" []	3175905	\N	\N	EFO	5	EFO	hematopoietic cell	immature basophil
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000768	"" []	4386648	\N	\N	EFO	6	EFO	somatic cell	immature basophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000768	"" []	3175907	\N	\N	EFO	5	EFO	hematopoietic cell	immature basophil
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000768	"" []	3175908	\N	\N	EFO	5	EFO	hematopoietic cell	immature basophil
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000768	"" []	4386647	\N	\N	EFO	6	EFO	cell type	immature basophil
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000768	"" []	5407807	\N	\N	EFO	7	EFO	material entity	immature basophil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000768	"" []	6146843	\N	\N	EFO	8	EFO	experimental factor	immature basophil
CL:0000769	\N	\N	"" []	CL:0000769	"" []	63028	\N	\N	EFO	0	EFO	basophilic metamyelocyte	basophilic metamyelocyte
CL:0000768	CL:0000769	\N	"" []	CL:0000769	"" []	202608	\N	\N	EFO	1	EFO	immature basophil	basophilic metamyelocyte
CL:0000768	CL:0000769	\N	"" []	CL:0000769	"" []	202609	\N	\N	EFO	1	EFO	immature basophil	basophilic metamyelocyte
CL:0002192	CL:0000769	\N	"" []	CL:0000769	"" []	202610	\N	\N	EFO	1	EFO	metamyelocyte	basophilic metamyelocyte
CL:0002192	CL:0000769	\N	"" []	CL:0000769	"" []	202611	\N	\N	EFO	1	EFO	metamyelocyte	basophilic metamyelocyte
CL:0000767	CL:0000768	\N	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	CL:0000769	"" []	555517	\N	\N	EFO	2	EFO	basophil	basophilic metamyelocyte
CL:0000767	CL:0000768	\N	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	CL:0000769	"" []	555518	\N	\N	EFO	2	EFO	basophil	basophilic metamyelocyte
CL:0002191	CL:0002192	\N	"" []	CL:0000769	"" []	555519	\N	\N	EFO	2	EFO	granulocytopoietic cell	basophilic metamyelocyte
CL:0000763	CL:0002192	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000769	"" []	555520	\N	\N	EFO	2	EFO	myeloid cell	basophilic metamyelocyte
CL:0002191	CL:0002192	\N	"" []	CL:0000769	"" []	555521	\N	\N	EFO	2	EFO	granulocytopoietic cell	basophilic metamyelocyte
CL:0000094	CL:0000767	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000769	"" []	1138179	\N	\N	EFO	3	EFO	granulocyte	basophilic metamyelocyte
CL:0000094	CL:0000767	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000769	"" []	1138180	\N	\N	EFO	3	EFO	granulocyte	basophilic metamyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000769	"" []	1138181	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	basophilic metamyelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000769	"" []	4386652	\N	\N	EFO	6	EFO	hematopoietic cell	basophilic metamyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000769	"" []	1138183	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	basophilic metamyelocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000769	"" []	2021253	\N	\N	EFO	4	EFO	myeloid leukocyte	basophilic metamyelocyte
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000769	"" []	2021254	\N	\N	EFO	4	EFO	blood cell	basophilic metamyelocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000769	"" []	2021255	\N	\N	EFO	4	EFO	myeloid leukocyte	basophilic metamyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000769	"" []	2021256	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	basophilic metamyelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000769	"" []	5028316	\N	\N	EFO	7	EFO	somatic cell	basophilic metamyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000769	"" []	2021258	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	basophilic metamyelocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000769	"" []	3175909	\N	\N	EFO	5	EFO	leukocyte	basophilic metamyelocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000769	"" []	3175910	\N	\N	EFO	5	EFO	hematopoietic cell	basophilic metamyelocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000769	"" []	3175911	\N	\N	EFO	5	EFO	leukocyte	basophilic metamyelocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000769	"" []	3175912	\N	\N	EFO	5	EFO	myeloid cell	basophilic metamyelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000769	"" []	3175913	\N	\N	EFO	5	EFO	hematopoietic cell	basophilic metamyelocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000769	"" []	4386649	\N	\N	EFO	6	EFO	hematopoietic cell	basophilic metamyelocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000769	"" []	4386651	\N	\N	EFO	6	EFO	hematopoietic cell	basophilic metamyelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000769	"" []	5407808	\N	\N	EFO	7	EFO	cell type	basophilic metamyelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000769	"" []	5996484	\N	\N	EFO	8	EFO	material entity	basophilic metamyelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000769	"" []	6550312	\N	\N	EFO	9	EFO	experimental factor	basophilic metamyelocyte
CL:0000770	\N	\N	"" []	CL:0000770	"" []	63029	\N	\N	EFO	0	EFO	band form basophil	band form basophil
CL:0000768	CL:0000770	\N	"" []	CL:0000770	"" []	202612	\N	\N	EFO	1	EFO	immature basophil	band form basophil
CL:0000768	CL:0000770	\N	"" []	CL:0000770	"" []	202613	\N	\N	EFO	1	EFO	immature basophil	band form basophil
CL:0000767	CL:0000768	\N	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	CL:0000770	"" []	555522	\N	\N	EFO	2	EFO	basophil	band form basophil
CL:0000767	CL:0000768	\N	"Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes." []	CL:0000770	"" []	555523	\N	\N	EFO	2	EFO	basophil	band form basophil
CL:0000094	CL:0000767	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000770	"" []	1138184	\N	\N	EFO	3	EFO	granulocyte	band form basophil
CL:0000094	CL:0000767	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000770	"" []	1138185	\N	\N	EFO	3	EFO	granulocyte	band form basophil
CL:0000766	CL:0000094	\N	"" []	CL:0000770	"" []	2021259	\N	\N	EFO	4	EFO	myeloid leukocyte	band form basophil
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000770	"" []	2021260	\N	\N	EFO	4	EFO	blood cell	band form basophil
CL:0000766	CL:0000094	\N	"" []	CL:0000770	"" []	2021261	\N	\N	EFO	4	EFO	myeloid leukocyte	band form basophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000770	"" []	3175914	\N	\N	EFO	5	EFO	leukocyte	band form basophil
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000770	"" []	3175915	\N	\N	EFO	5	EFO	hematopoietic cell	band form basophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000770	"" []	3175916	\N	\N	EFO	5	EFO	leukocyte	band form basophil
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000770	"" []	3175917	\N	\N	EFO	5	EFO	myeloid cell	band form basophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000770	"" []	4386654	\N	\N	EFO	6	EFO	hematopoietic cell	band form basophil
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000770	"" []	5407811	\N	\N	EFO	7	EFO	somatic cell	band form basophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000770	"" []	4386656	\N	\N	EFO	6	EFO	hematopoietic cell	band form basophil
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000770	"" []	4386657	\N	\N	EFO	6	EFO	hematopoietic cell	band form basophil
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000770	"" []	5407810	\N	\N	EFO	7	EFO	cell type	band form basophil
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000770	"" []	6146845	\N	\N	EFO	8	EFO	material entity	band form basophil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000770	"" []	6631475	\N	\N	EFO	9	EFO	experimental factor	band form basophil
CL:0000771	\N	\N	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	63030	\N	\N	EFO	0	EFO	eosinophil	eosinophil
CL:0000094	CL:0000771	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	202614	\N	\N	EFO	1	EFO	granulocyte	eosinophil
CL:0000094	CL:0000771	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	202615	\N	\N	EFO	1	EFO	granulocyte	eosinophil
CL:0000766	CL:0000094	\N	"" []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	555524	\N	\N	EFO	2	EFO	myeloid leukocyte	eosinophil
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	555525	\N	\N	EFO	2	EFO	blood cell	eosinophil
CL:0000766	CL:0000094	\N	"" []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	555526	\N	\N	EFO	2	EFO	myeloid leukocyte	eosinophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	1138186	\N	\N	EFO	3	EFO	leukocyte	eosinophil
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	1138187	\N	\N	EFO	3	EFO	hematopoietic cell	eosinophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	1138188	\N	\N	EFO	3	EFO	leukocyte	eosinophil
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	1138189	\N	\N	EFO	3	EFO	myeloid cell	eosinophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	2021262	\N	\N	EFO	4	EFO	hematopoietic cell	eosinophil
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	3175919	\N	\N	EFO	5	EFO	somatic cell	eosinophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	2021264	\N	\N	EFO	4	EFO	hematopoietic cell	eosinophil
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	2021265	\N	\N	EFO	4	EFO	hematopoietic cell	eosinophil
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	3175918	\N	\N	EFO	5	EFO	cell type	eosinophil
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	4386658	\N	\N	EFO	6	EFO	material entity	eosinophil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000771	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	5407812	\N	\N	EFO	7	EFO	experimental factor	eosinophil
CL:0000772	\N	\N	"" []	CL:0000772	"" []	63031	\N	\N	EFO	0	EFO	immature eosinophil	immature eosinophil
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0000772	"" []	194200	\N	\N	EFO	0	EFO	nucleate cell	immature eosinophil
CL:0000771	CL:0000772	\N	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	CL:0000772	"" []	202616	\N	\N	EFO	1	EFO	eosinophil	immature eosinophil
CL:0000771	CL:0000772	\N	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	CL:0000772	"" []	202617	\N	\N	EFO	1	EFO	eosinophil	immature eosinophil
CL:0000094	CL:0000771	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000772	"" []	555527	\N	\N	EFO	2	EFO	granulocyte	immature eosinophil
CL:0000094	CL:0000771	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000772	"" []	555528	\N	\N	EFO	2	EFO	granulocyte	immature eosinophil
CL:0000766	CL:0000094	\N	"" []	CL:0000772	"" []	1138190	\N	\N	EFO	3	EFO	myeloid leukocyte	immature eosinophil
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000772	"" []	1138191	\N	\N	EFO	3	EFO	blood cell	immature eosinophil
CL:0000766	CL:0000094	\N	"" []	CL:0000772	"" []	1138192	\N	\N	EFO	3	EFO	myeloid leukocyte	immature eosinophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000772	"" []	2021266	\N	\N	EFO	4	EFO	leukocyte	immature eosinophil
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000772	"" []	2021267	\N	\N	EFO	4	EFO	hematopoietic cell	immature eosinophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000772	"" []	2021268	\N	\N	EFO	4	EFO	leukocyte	immature eosinophil
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000772	"" []	2021269	\N	\N	EFO	4	EFO	myeloid cell	immature eosinophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000772	"" []	3175920	\N	\N	EFO	5	EFO	hematopoietic cell	immature eosinophil
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000772	"" []	4386660	\N	\N	EFO	6	EFO	somatic cell	immature eosinophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000772	"" []	3175922	\N	\N	EFO	5	EFO	hematopoietic cell	immature eosinophil
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000772	"" []	3175923	\N	\N	EFO	5	EFO	hematopoietic cell	immature eosinophil
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000772	"" []	4386659	\N	\N	EFO	6	EFO	cell type	immature eosinophil
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000772	"" []	5407813	\N	\N	EFO	7	EFO	material entity	immature eosinophil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000772	"" []	6146846	\N	\N	EFO	8	EFO	experimental factor	immature eosinophil
CL:0000773	\N	\N	"" []	CL:0000773	"" []	63032	\N	\N	EFO	0	EFO	eosinophilic metamyelocyte	eosinophilic metamyelocyte
CL:0000772	CL:0000773	\N	"" []	CL:0000773	"" []	202618	\N	\N	EFO	1	EFO	immature eosinophil	eosinophilic metamyelocyte
CL:0000772	CL:0000773	\N	"" []	CL:0000773	"" []	202619	\N	\N	EFO	1	EFO	immature eosinophil	eosinophilic metamyelocyte
CL:0002192	CL:0000773	\N	"" []	CL:0000773	"" []	202620	\N	\N	EFO	1	EFO	metamyelocyte	eosinophilic metamyelocyte
CL:0002192	CL:0000773	\N	"" []	CL:0000773	"" []	202621	\N	\N	EFO	1	EFO	metamyelocyte	eosinophilic metamyelocyte
CL:0000771	CL:0000772	\N	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	CL:0000773	"" []	555529	\N	\N	EFO	2	EFO	eosinophil	eosinophilic metamyelocyte
CL:0000771	CL:0000772	\N	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	CL:0000773	"" []	555530	\N	\N	EFO	2	EFO	eosinophil	eosinophilic metamyelocyte
CL:0002191	CL:0002192	\N	"" []	CL:0000773	"" []	555531	\N	\N	EFO	2	EFO	granulocytopoietic cell	eosinophilic metamyelocyte
CL:0000763	CL:0002192	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000773	"" []	555532	\N	\N	EFO	2	EFO	myeloid cell	eosinophilic metamyelocyte
CL:0002191	CL:0002192	\N	"" []	CL:0000773	"" []	555533	\N	\N	EFO	2	EFO	granulocytopoietic cell	eosinophilic metamyelocyte
CL:0000094	CL:0000771	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000773	"" []	1138193	\N	\N	EFO	3	EFO	granulocyte	eosinophilic metamyelocyte
CL:0000094	CL:0000771	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000773	"" []	1138194	\N	\N	EFO	3	EFO	granulocyte	eosinophilic metamyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000773	"" []	1138195	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	eosinophilic metamyelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000773	"" []	4386664	\N	\N	EFO	6	EFO	hematopoietic cell	eosinophilic metamyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000773	"" []	1138197	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	eosinophilic metamyelocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000773	"" []	2021270	\N	\N	EFO	4	EFO	myeloid leukocyte	eosinophilic metamyelocyte
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000773	"" []	2021271	\N	\N	EFO	4	EFO	blood cell	eosinophilic metamyelocyte
CL:0000766	CL:0000094	\N	"" []	CL:0000773	"" []	2021272	\N	\N	EFO	4	EFO	myeloid leukocyte	eosinophilic metamyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000773	"" []	2021273	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	eosinophilic metamyelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000773	"" []	5028317	\N	\N	EFO	7	EFO	somatic cell	eosinophilic metamyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000773	"" []	2021275	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	eosinophilic metamyelocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000773	"" []	3175924	\N	\N	EFO	5	EFO	leukocyte	eosinophilic metamyelocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000773	"" []	3175925	\N	\N	EFO	5	EFO	hematopoietic cell	eosinophilic metamyelocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000773	"" []	3175926	\N	\N	EFO	5	EFO	leukocyte	eosinophilic metamyelocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000773	"" []	3175927	\N	\N	EFO	5	EFO	myeloid cell	eosinophilic metamyelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000773	"" []	3175928	\N	\N	EFO	5	EFO	hematopoietic cell	eosinophilic metamyelocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000773	"" []	4386661	\N	\N	EFO	6	EFO	hematopoietic cell	eosinophilic metamyelocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000773	"" []	4386663	\N	\N	EFO	6	EFO	hematopoietic cell	eosinophilic metamyelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000773	"" []	5407814	\N	\N	EFO	7	EFO	cell type	eosinophilic metamyelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000773	"" []	5996485	\N	\N	EFO	8	EFO	material entity	eosinophilic metamyelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000773	"" []	6550313	\N	\N	EFO	9	EFO	experimental factor	eosinophilic metamyelocyte
CL:0000774	\N	\N	"" []	CL:0000774	"" []	63033	\N	\N	EFO	0	EFO	band form eosinophil	band form eosinophil
CL:0000772	CL:0000774	\N	"" []	CL:0000774	"" []	202622	\N	\N	EFO	1	EFO	immature eosinophil	band form eosinophil
CL:0000772	CL:0000774	\N	"" []	CL:0000774	"" []	202623	\N	\N	EFO	1	EFO	immature eosinophil	band form eosinophil
CL:0000771	CL:0000772	\N	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	CL:0000774	"" []	555534	\N	\N	EFO	2	EFO	eosinophil	band form eosinophil
CL:0000771	CL:0000772	\N	"Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin." []	CL:0000774	"" []	555535	\N	\N	EFO	2	EFO	eosinophil	band form eosinophil
CL:0000094	CL:0000771	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000774	"" []	1138198	\N	\N	EFO	3	EFO	granulocyte	band form eosinophil
CL:0000094	CL:0000771	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000774	"" []	1138199	\N	\N	EFO	3	EFO	granulocyte	band form eosinophil
CL:0000766	CL:0000094	\N	"" []	CL:0000774	"" []	2021276	\N	\N	EFO	4	EFO	myeloid leukocyte	band form eosinophil
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000774	"" []	2021277	\N	\N	EFO	4	EFO	blood cell	band form eosinophil
CL:0000766	CL:0000094	\N	"" []	CL:0000774	"" []	2021278	\N	\N	EFO	4	EFO	myeloid leukocyte	band form eosinophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000774	"" []	3175929	\N	\N	EFO	5	EFO	leukocyte	band form eosinophil
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000774	"" []	3175930	\N	\N	EFO	5	EFO	hematopoietic cell	band form eosinophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000774	"" []	3175931	\N	\N	EFO	5	EFO	leukocyte	band form eosinophil
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000774	"" []	3175932	\N	\N	EFO	5	EFO	myeloid cell	band form eosinophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000774	"" []	4386666	\N	\N	EFO	6	EFO	hematopoietic cell	band form eosinophil
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000774	"" []	5407817	\N	\N	EFO	7	EFO	somatic cell	band form eosinophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000774	"" []	4386668	\N	\N	EFO	6	EFO	hematopoietic cell	band form eosinophil
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000774	"" []	4386669	\N	\N	EFO	6	EFO	hematopoietic cell	band form eosinophil
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000774	"" []	5407816	\N	\N	EFO	7	EFO	cell type	band form eosinophil
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000774	"" []	6146848	\N	\N	EFO	8	EFO	material entity	band form eosinophil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000774	"" []	6631476	\N	\N	EFO	9	EFO	experimental factor	band form eosinophil
CL:0000775	\N	\N	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	63034	\N	\N	EFO	0	EFO	neutrophil	neutrophil
CL:0000094	CL:0000775	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	202624	\N	\N	EFO	1	EFO	granulocyte	neutrophil
CL:0000094	CL:0000775	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	202625	\N	\N	EFO	1	EFO	granulocyte	neutrophil
CL:0000766	CL:0000094	\N	"" []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	555536	\N	\N	EFO	2	EFO	myeloid leukocyte	neutrophil
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	555537	\N	\N	EFO	2	EFO	blood cell	neutrophil
CL:0000766	CL:0000094	\N	"" []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	555538	\N	\N	EFO	2	EFO	myeloid leukocyte	neutrophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	1138200	\N	\N	EFO	3	EFO	leukocyte	neutrophil
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	1138201	\N	\N	EFO	3	EFO	hematopoietic cell	neutrophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	1138202	\N	\N	EFO	3	EFO	leukocyte	neutrophil
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	1138203	\N	\N	EFO	3	EFO	myeloid cell	neutrophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	2021279	\N	\N	EFO	4	EFO	hematopoietic cell	neutrophil
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	3175934	\N	\N	EFO	5	EFO	somatic cell	neutrophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	2021281	\N	\N	EFO	4	EFO	hematopoietic cell	neutrophil
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	2021282	\N	\N	EFO	4	EFO	hematopoietic cell	neutrophil
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	3175933	\N	\N	EFO	5	EFO	cell type	neutrophil
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	4386670	\N	\N	EFO	6	EFO	material entity	neutrophil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000775	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	5407818	\N	\N	EFO	7	EFO	experimental factor	neutrophil
CL:0000776	\N	\N	"" []	CL:0000776	"" []	63035	\N	\N	EFO	0	EFO	immature neutrophil	immature neutrophil
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0000776	"" []	194201	\N	\N	EFO	0	EFO	nucleate cell	immature neutrophil
CL:0000775	CL:0000776	\N	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	CL:0000776	"" []	202626	\N	\N	EFO	1	EFO	neutrophil	immature neutrophil
CL:0000775	CL:0000776	\N	"Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes." []	CL:0000776	"" []	202627	\N	\N	EFO	1	EFO	neutrophil	immature neutrophil
CL:0000094	CL:0000775	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000776	"" []	555539	\N	\N	EFO	2	EFO	granulocyte	immature neutrophil
CL:0000094	CL:0000775	\N	"A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils  and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes." []	CL:0000776	"" []	555540	\N	\N	EFO	2	EFO	granulocyte	immature neutrophil
CL:0000766	CL:0000094	\N	"" []	CL:0000776	"" []	1138204	\N	\N	EFO	3	EFO	myeloid leukocyte	immature neutrophil
CL:0000081	CL:0000094	\N	"A cell found predominately in the blood." []	CL:0000776	"" []	1138205	\N	\N	EFO	3	EFO	blood cell	immature neutrophil
CL:0000766	CL:0000094	\N	"" []	CL:0000776	"" []	1138206	\N	\N	EFO	3	EFO	myeloid leukocyte	immature neutrophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000776	"" []	2021283	\N	\N	EFO	4	EFO	leukocyte	immature neutrophil
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0000776	"" []	2021284	\N	\N	EFO	4	EFO	hematopoietic cell	immature neutrophil
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000776	"" []	2021285	\N	\N	EFO	4	EFO	leukocyte	immature neutrophil
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000776	"" []	2021286	\N	\N	EFO	4	EFO	myeloid cell	immature neutrophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000776	"" []	3175935	\N	\N	EFO	5	EFO	hematopoietic cell	immature neutrophil
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000776	"" []	4386672	\N	\N	EFO	6	EFO	somatic cell	immature neutrophil
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000776	"" []	3175937	\N	\N	EFO	5	EFO	hematopoietic cell	immature neutrophil
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000776	"" []	3175938	\N	\N	EFO	5	EFO	hematopoietic cell	immature neutrophil
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000776	"" []	4386671	\N	\N	EFO	6	EFO	cell type	immature neutrophil
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000776	"" []	5407819	\N	\N	EFO	7	EFO	material entity	immature neutrophil
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000776	"" []	6146849	\N	\N	EFO	8	EFO	experimental factor	immature neutrophil
CL:0000777	\N	\N	"A tissue-resident macrophage of the renal glomerular mesangium." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	63036	\N	\N	EFO	0	EFO	mesangial phagocyte	mesangial phagocyte
CL:0000864	CL:0000777	\N	"" []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	202628	\N	\N	EFO	1	EFO	tissue-resident macrophage	mesangial phagocyte
CL:0000864	CL:0000777	\N	"" []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	202629	\N	\N	EFO	1	EFO	tissue-resident macrophage	mesangial phagocyte
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	555541	\N	\N	EFO	2	EFO	macrophage	mesangial phagocyte
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	555542	\N	\N	EFO	2	EFO	macrophage	mesangial phagocyte
CL:0000766	CL:0000235	\N	"" []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	1138207	\N	\N	EFO	3	EFO	myeloid leukocyte	mesangial phagocyte
CL:0000766	CL:0000235	\N	"" []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	1138208	\N	\N	EFO	3	EFO	myeloid leukocyte	mesangial phagocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	2021287	\N	\N	EFO	4	EFO	leukocyte	mesangial phagocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	2021288	\N	\N	EFO	4	EFO	leukocyte	mesangial phagocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	2021289	\N	\N	EFO	4	EFO	myeloid cell	mesangial phagocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	3175939	\N	\N	EFO	5	EFO	hematopoietic cell	mesangial phagocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	3175940	\N	\N	EFO	5	EFO	hematopoietic cell	mesangial phagocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	3175941	\N	\N	EFO	5	EFO	hematopoietic cell	mesangial phagocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	4386673	\N	\N	EFO	6	EFO	cell type	mesangial phagocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	4386674	\N	\N	EFO	6	EFO	somatic cell	mesangial phagocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	5407820	\N	\N	EFO	7	EFO	material entity	mesangial phagocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000777	"A tissue-resident macrophage of the renal glomerular mesangium." []	6146850	\N	\N	EFO	8	EFO	experimental factor	mesangial phagocyte
CL:0000778	\N	\N	"" []	CL:0000778	"" []	63037	\N	\N	EFO	0	EFO	mononuclear osteoclast	mononuclear osteoclast
CL:0000226	\N	\N	"A cell with a single nucleus." [FB:ma, GOC:tfm]	CL:0000778	"" []	194202	\N	\N	EFO	0	EFO	single nucleate cell	mononuclear osteoclast
CL:0000092	CL:0000778	\N	"" []	CL:0000778	"" []	202630	\N	\N	EFO	1	EFO	osteoclast	mononuclear osteoclast
CL:0000092	CL:0000778	\N	"" []	CL:0000778	"" []	202631	\N	\N	EFO	1	EFO	osteoclast	mononuclear osteoclast
CL:0000766	CL:0000092	\N	"" []	CL:0000778	"" []	555543	\N	\N	EFO	2	EFO	myeloid leukocyte	mononuclear osteoclast
CL:0000766	CL:0000092	\N	"" []	CL:0000778	"" []	555544	\N	\N	EFO	2	EFO	myeloid leukocyte	mononuclear osteoclast
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000778	"" []	1138209	\N	\N	EFO	3	EFO	leukocyte	mononuclear osteoclast
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000778	"" []	1138210	\N	\N	EFO	3	EFO	leukocyte	mononuclear osteoclast
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000778	"" []	1138211	\N	\N	EFO	3	EFO	myeloid cell	mononuclear osteoclast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000778	"" []	2021290	\N	\N	EFO	4	EFO	hematopoietic cell	mononuclear osteoclast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000778	"" []	2021291	\N	\N	EFO	4	EFO	hematopoietic cell	mononuclear osteoclast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000778	"" []	2021292	\N	\N	EFO	4	EFO	hematopoietic cell	mononuclear osteoclast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000778	"" []	3175942	\N	\N	EFO	5	EFO	cell type	mononuclear osteoclast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000778	"" []	3175943	\N	\N	EFO	5	EFO	somatic cell	mononuclear osteoclast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000778	"" []	4386675	\N	\N	EFO	6	EFO	material entity	mononuclear osteoclast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000778	"" []	5407821	\N	\N	EFO	7	EFO	experimental factor	mononuclear osteoclast
CL:0000779	\N	\N	"" []	CL:0000779	"" []	63038	\N	\N	EFO	0	EFO	multinuclear osteoclast	multinuclear osteoclast
CL:0000228	\N	\N	"A cell with more than one nucleus." [FB:ma]	CL:0000779	"" []	194203	\N	\N	EFO	0	EFO	multinucleate cell	multinuclear osteoclast
CL:0000092	CL:0000779	\N	"" []	CL:0000779	"" []	202632	\N	\N	EFO	1	EFO	osteoclast	multinuclear osteoclast
CL:0000092	CL:0000779	\N	"" []	CL:0000779	"" []	202633	\N	\N	EFO	1	EFO	osteoclast	multinuclear osteoclast
CL:0000766	CL:0000092	\N	"" []	CL:0000779	"" []	555545	\N	\N	EFO	2	EFO	myeloid leukocyte	multinuclear osteoclast
CL:0000766	CL:0000092	\N	"" []	CL:0000779	"" []	555546	\N	\N	EFO	2	EFO	myeloid leukocyte	multinuclear osteoclast
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000779	"" []	1138212	\N	\N	EFO	3	EFO	leukocyte	multinuclear osteoclast
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000779	"" []	1138213	\N	\N	EFO	3	EFO	leukocyte	multinuclear osteoclast
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000779	"" []	1138214	\N	\N	EFO	3	EFO	myeloid cell	multinuclear osteoclast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000779	"" []	2021293	\N	\N	EFO	4	EFO	hematopoietic cell	multinuclear osteoclast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000779	"" []	2021294	\N	\N	EFO	4	EFO	hematopoietic cell	multinuclear osteoclast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000779	"" []	2021295	\N	\N	EFO	4	EFO	hematopoietic cell	multinuclear osteoclast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000779	"" []	3175944	\N	\N	EFO	5	EFO	cell type	multinuclear osteoclast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000779	"" []	3175945	\N	\N	EFO	5	EFO	somatic cell	multinuclear osteoclast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000779	"" []	4386676	\N	\N	EFO	6	EFO	material entity	multinuclear osteoclast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000779	"" []	5407822	\N	\N	EFO	7	EFO	experimental factor	multinuclear osteoclast
CL:0000780	\N	\N	"" []	CL:0000780	"" []	63039	\N	\N	EFO	0	EFO	multinuclear odontoclast	multinuclear odontoclast
CL:0000588	CL:0000780	\N	"" []	CL:0000780	"" []	202634	\N	\N	EFO	1	EFO	odontoclast	multinuclear odontoclast
CL:0000588	CL:0000780	\N	"" []	CL:0000780	"" []	202635	\N	\N	EFO	1	EFO	odontoclast	multinuclear odontoclast
CL:0000779	CL:0000780	\N	"" []	CL:0000780	"" []	202636	\N	\N	EFO	1	EFO	multinuclear osteoclast	multinuclear odontoclast
CL:0000092	CL:0000588	\N	"" []	CL:0000780	"" []	555547	\N	\N	EFO	2	EFO	osteoclast	multinuclear odontoclast
CL:0000092	CL:0000588	\N	"" []	CL:0000780	"" []	555548	\N	\N	EFO	2	EFO	osteoclast	multinuclear odontoclast
CL:0000092	CL:0000779	\N	"" []	CL:0000780	"" []	555549	\N	\N	EFO	2	EFO	osteoclast	multinuclear odontoclast
CL:0000766	CL:0000092	\N	"" []	CL:0000780	"" []	1138215	\N	\N	EFO	3	EFO	myeloid leukocyte	multinuclear odontoclast
CL:0000766	CL:0000092	\N	"" []	CL:0000780	"" []	1138216	\N	\N	EFO	3	EFO	myeloid leukocyte	multinuclear odontoclast
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000780	"" []	2021296	\N	\N	EFO	4	EFO	leukocyte	multinuclear odontoclast
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000780	"" []	2021297	\N	\N	EFO	4	EFO	leukocyte	multinuclear odontoclast
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000780	"" []	2021298	\N	\N	EFO	4	EFO	myeloid cell	multinuclear odontoclast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000780	"" []	3175946	\N	\N	EFO	5	EFO	hematopoietic cell	multinuclear odontoclast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000780	"" []	3175947	\N	\N	EFO	5	EFO	hematopoietic cell	multinuclear odontoclast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000780	"" []	3175948	\N	\N	EFO	5	EFO	hematopoietic cell	multinuclear odontoclast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000780	"" []	4386677	\N	\N	EFO	6	EFO	cell type	multinuclear odontoclast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000780	"" []	4386678	\N	\N	EFO	6	EFO	somatic cell	multinuclear odontoclast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000780	"" []	5407823	\N	\N	EFO	7	EFO	material entity	multinuclear odontoclast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000780	"" []	6146851	\N	\N	EFO	8	EFO	experimental factor	multinuclear odontoclast
CL:0000781	\N	\N	"" []	CL:0000781	"" []	63040	\N	\N	EFO	0	EFO	mononuclear odontoclast	mononuclear odontoclast
CL:0000588	CL:0000781	\N	"" []	CL:0000781	"" []	202637	\N	\N	EFO	1	EFO	odontoclast	mononuclear odontoclast
CL:0000588	CL:0000781	\N	"" []	CL:0000781	"" []	202638	\N	\N	EFO	1	EFO	odontoclast	mononuclear odontoclast
CL:0000778	CL:0000781	\N	"" []	CL:0000781	"" []	202639	\N	\N	EFO	1	EFO	mononuclear osteoclast	mononuclear odontoclast
CL:0000778	CL:0000781	\N	"" []	CL:0000781	"" []	202640	\N	\N	EFO	1	EFO	mononuclear osteoclast	mononuclear odontoclast
CL:0000092	CL:0000588	\N	"" []	CL:0000781	"" []	555550	\N	\N	EFO	2	EFO	osteoclast	mononuclear odontoclast
CL:0000092	CL:0000588	\N	"" []	CL:0000781	"" []	555551	\N	\N	EFO	2	EFO	osteoclast	mononuclear odontoclast
CL:0000092	CL:0000778	\N	"" []	CL:0000781	"" []	555552	\N	\N	EFO	2	EFO	osteoclast	mononuclear odontoclast
CL:0000092	CL:0000778	\N	"" []	CL:0000781	"" []	555553	\N	\N	EFO	2	EFO	osteoclast	mononuclear odontoclast
CL:0000766	CL:0000092	\N	"" []	CL:0000781	"" []	1138217	\N	\N	EFO	3	EFO	myeloid leukocyte	mononuclear odontoclast
CL:0000766	CL:0000092	\N	"" []	CL:0000781	"" []	1138218	\N	\N	EFO	3	EFO	myeloid leukocyte	mononuclear odontoclast
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000781	"" []	2021299	\N	\N	EFO	4	EFO	leukocyte	mononuclear odontoclast
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000781	"" []	2021300	\N	\N	EFO	4	EFO	leukocyte	mononuclear odontoclast
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000781	"" []	2021301	\N	\N	EFO	4	EFO	myeloid cell	mononuclear odontoclast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000781	"" []	3175949	\N	\N	EFO	5	EFO	hematopoietic cell	mononuclear odontoclast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000781	"" []	3175950	\N	\N	EFO	5	EFO	hematopoietic cell	mononuclear odontoclast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000781	"" []	3175951	\N	\N	EFO	5	EFO	hematopoietic cell	mononuclear odontoclast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000781	"" []	4386679	\N	\N	EFO	6	EFO	cell type	mononuclear odontoclast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000781	"" []	4386680	\N	\N	EFO	6	EFO	somatic cell	mononuclear odontoclast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000781	"" []	5407824	\N	\N	EFO	7	EFO	material entity	mononuclear odontoclast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000781	"" []	6146852	\N	\N	EFO	8	EFO	experimental factor	mononuclear odontoclast
CL:0000782	\N	\N	"" []	CL:0000782	"" []	63041	\N	\N	EFO	0	EFO	myeloid dendritic cell	myeloid dendritic cell
CL:0000766	CL:0000782	\N	"" []	CL:0000782	"" []	202641	\N	\N	EFO	1	EFO	myeloid leukocyte	myeloid dendritic cell
CL:0000990	CL:0000782	\N	"" []	CL:0000782	"" []	202642	\N	\N	EFO	1	EFO	conventional dendritic cell	myeloid dendritic cell
CL:0000990	CL:0000782	\N	"" []	CL:0000782	"" []	202643	\N	\N	EFO	1	EFO	conventional dendritic cell	myeloid dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000782	"" []	555554	\N	\N	EFO	2	EFO	leukocyte	myeloid dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000782	"" []	555555	\N	\N	EFO	2	EFO	myeloid cell	myeloid dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000782	"" []	555556	\N	\N	EFO	2	EFO	dendritic cell	myeloid dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000782	"" []	555557	\N	\N	EFO	2	EFO	dendritic cell	myeloid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000782	"" []	2021304	\N	\N	EFO	4	EFO	hematopoietic cell	myeloid dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000782	"" []	1138220	\N	\N	EFO	3	EFO	hematopoietic cell	myeloid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000782	"" []	1138221	\N	\N	EFO	3	EFO	leukocyte	myeloid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000782	"" []	1138222	\N	\N	EFO	3	EFO	leukocyte	myeloid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000782	"" []	2999172	\N	\N	EFO	5	EFO	somatic cell	myeloid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000782	"" []	2021303	\N	\N	EFO	4	EFO	hematopoietic cell	myeloid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000782	"" []	3175952	\N	\N	EFO	5	EFO	cell type	myeloid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000782	"" []	4386681	\N	\N	EFO	6	EFO	material entity	myeloid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000782	"" []	5407825	\N	\N	EFO	7	EFO	experimental factor	myeloid dendritic cell
CL:0000784	\N	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000784	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	63042	\N	\N	EFO	0	EFO	plasmacytoid dendritic cell	plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000784	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	202644	\N	\N	EFO	1	EFO	dendritic cell	plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000784	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	202645	\N	\N	EFO	1	EFO	dendritic cell	plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000784	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	555558	\N	\N	EFO	2	EFO	leukocyte	plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000784	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	555559	\N	\N	EFO	2	EFO	leukocyte	plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000784	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	1138223	\N	\N	EFO	3	EFO	hematopoietic cell	plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000784	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	1138224	\N	\N	EFO	3	EFO	hematopoietic cell	plasmacytoid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000784	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	2021305	\N	\N	EFO	4	EFO	cell type	plasmacytoid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000784	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	2021306	\N	\N	EFO	4	EFO	somatic cell	plasmacytoid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000784	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	3175953	\N	\N	EFO	5	EFO	material entity	plasmacytoid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000784	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	4386682	\N	\N	EFO	6	EFO	experimental factor	plasmacytoid dendritic cell
CL:0000785	\N	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	63043	\N	\N	EFO	0	EFO	mature B cell	mature B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	202646	\N	\N	EFO	1	EFO	B cell	mature B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	202647	\N	\N	EFO	1	EFO	B cell	mature B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	555560	\N	\N	EFO	2	EFO	lymphocyte of B lineage	mature B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	555561	\N	\N	EFO	2	EFO	lymphocyte of B lineage	mature B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	1138225	\N	\N	EFO	3	EFO	lymphocyte	mature B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	1138226	\N	\N	EFO	3	EFO	lymphocyte	mature B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	2021307	\N	\N	EFO	4	EFO	leukocyte	mature B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	2021308	\N	\N	EFO	4	EFO	nongranular leukocyte	mature B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	3175954	\N	\N	EFO	5	EFO	hematopoietic cell	mature B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	3175955	\N	\N	EFO	5	EFO	leukocyte	mature B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	4386683	\N	\N	EFO	6	EFO	cell type	mature B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	4386684	\N	\N	EFO	6	EFO	hematopoietic cell	mature B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	5407826	\N	\N	EFO	7	EFO	material entity	mature B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	5407827	\N	\N	EFO	7	EFO	somatic cell	mature B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000785	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	6146853	\N	\N	EFO	8	EFO	experimental factor	mature B cell
CL:0000786	\N	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	63044	\N	\N	EFO	0	EFO	plasma cell	plasma cell
CL:0000151	CL:0000786	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	202648	\N	\N	EFO	1	EFO	secretory cell	plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	202649	\N	\N	EFO	1	EFO	antibody secreting cell	plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	202650	\N	\N	EFO	1	EFO	antibody secreting cell	plasma cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	555562	\N	\N	EFO	2	EFO	cell type	plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	555563	\N	\N	EFO	2	EFO	lymphocyte of B lineage	plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	555564	\N	\N	EFO	2	EFO	lymphocyte of B lineage	plasma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	5407828	\N	\N	EFO	7	EFO	material entity	plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	1138228	\N	\N	EFO	3	EFO	lymphocyte	plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	1138229	\N	\N	EFO	3	EFO	lymphocyte	plasma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	5801806	\N	\N	EFO	8	EFO	experimental factor	plasma cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	2021310	\N	\N	EFO	4	EFO	leukocyte	plasma cell
CL:0002087	CL:0000542	\N	"" []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	2021311	\N	\N	EFO	4	EFO	nongranular leukocyte	plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	3175956	\N	\N	EFO	5	EFO	hematopoietic cell	plasma cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	3175957	\N	\N	EFO	5	EFO	leukocyte	plasma cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	4386685	\N	\N	EFO	6	EFO	cell type	plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	4386686	\N	\N	EFO	6	EFO	hematopoietic cell	plasma cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000786	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	5407829	\N	\N	EFO	7	EFO	somatic cell	plasma cell
CL:0000787	\N	\N	"" []	CL:0000787	"" []	63045	\N	\N	EFO	0	EFO	memory B cell	memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000787	"" []	202651	\N	\N	EFO	1	EFO	mature B cell	memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000787	"" []	202652	\N	\N	EFO	1	EFO	mature B cell	memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000787	"" []	555565	\N	\N	EFO	2	EFO	B cell	memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000787	"" []	555566	\N	\N	EFO	2	EFO	B cell	memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000787	"" []	1138230	\N	\N	EFO	3	EFO	lymphocyte of B lineage	memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000787	"" []	1138231	\N	\N	EFO	3	EFO	lymphocyte of B lineage	memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000787	"" []	2021312	\N	\N	EFO	4	EFO	lymphocyte	memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000787	"" []	2021313	\N	\N	EFO	4	EFO	lymphocyte	memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000787	"" []	3175958	\N	\N	EFO	5	EFO	leukocyte	memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000787	"" []	3175959	\N	\N	EFO	5	EFO	nongranular leukocyte	memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000787	"" []	4386687	\N	\N	EFO	6	EFO	hematopoietic cell	memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000787	"" []	4386688	\N	\N	EFO	6	EFO	leukocyte	memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000787	"" []	5407830	\N	\N	EFO	7	EFO	cell type	memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000787	"" []	5407831	\N	\N	EFO	7	EFO	hematopoietic cell	memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000787	"" []	6146854	\N	\N	EFO	8	EFO	material entity	memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000787	"" []	6146855	\N	\N	EFO	8	EFO	somatic cell	memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000787	"" []	6631477	\N	\N	EFO	9	EFO	experimental factor	memory B cell
CL:0000788	\N	\N	"" []	CL:0000788	"" []	63046	\N	\N	EFO	0	EFO	naive B cell	naive B cell
CL:0000785	CL:0000788	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000788	"" []	202653	\N	\N	EFO	1	EFO	mature B cell	naive B cell
CL:0000785	CL:0000788	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000788	"" []	202654	\N	\N	EFO	1	EFO	mature B cell	naive B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000788	"" []	555567	\N	\N	EFO	2	EFO	B cell	naive B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000788	"" []	555568	\N	\N	EFO	2	EFO	B cell	naive B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000788	"" []	1138232	\N	\N	EFO	3	EFO	lymphocyte of B lineage	naive B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000788	"" []	1138233	\N	\N	EFO	3	EFO	lymphocyte of B lineage	naive B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000788	"" []	2021314	\N	\N	EFO	4	EFO	lymphocyte	naive B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000788	"" []	2021315	\N	\N	EFO	4	EFO	lymphocyte	naive B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000788	"" []	3175960	\N	\N	EFO	5	EFO	leukocyte	naive B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000788	"" []	3175961	\N	\N	EFO	5	EFO	nongranular leukocyte	naive B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000788	"" []	4386689	\N	\N	EFO	6	EFO	hematopoietic cell	naive B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000788	"" []	4386690	\N	\N	EFO	6	EFO	leukocyte	naive B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000788	"" []	5407832	\N	\N	EFO	7	EFO	cell type	naive B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000788	"" []	5407833	\N	\N	EFO	7	EFO	hematopoietic cell	naive B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000788	"" []	6146856	\N	\N	EFO	8	EFO	material entity	naive B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000788	"" []	6146857	\N	\N	EFO	8	EFO	somatic cell	naive B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000788	"" []	6631478	\N	\N	EFO	9	EFO	experimental factor	naive B cell
CL:0000789	\N	\N	"" []	CL:0000789	"" []	63047	\N	\N	EFO	0	EFO	alpha-beta T cell	alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000789	"" []	202655	\N	\N	EFO	1	EFO	T cell	alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000789	"" []	202656	\N	\N	EFO	1	EFO	T cell	alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000789	"" []	555569	\N	\N	EFO	2	EFO	lymphocyte	alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000789	"" []	555570	\N	\N	EFO	2	EFO	lymphocyte	alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000789	"" []	1138234	\N	\N	EFO	3	EFO	leukocyte	alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000789	"" []	1138235	\N	\N	EFO	3	EFO	nongranular leukocyte	alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000789	"" []	2021316	\N	\N	EFO	4	EFO	hematopoietic cell	alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000789	"" []	2021317	\N	\N	EFO	4	EFO	leukocyte	alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000789	"" []	3175962	\N	\N	EFO	5	EFO	cell type	alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000789	"" []	3175963	\N	\N	EFO	5	EFO	hematopoietic cell	alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000789	"" []	4386691	\N	\N	EFO	6	EFO	material entity	alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000789	"" []	4386692	\N	\N	EFO	6	EFO	somatic cell	alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000789	"" []	5407834	\N	\N	EFO	7	EFO	experimental factor	alpha-beta T cell
CL:0000790	\N	\N	"" []	CL:0000790	"" []	63048	\N	\N	EFO	0	EFO	immature alpha-beta T cell	immature alpha-beta T cell
CL:0000789	CL:0000790	\N	"" []	CL:0000790	"" []	202657	\N	\N	EFO	1	EFO	alpha-beta T cell	immature alpha-beta T cell
CL:0000789	CL:0000790	\N	"" []	CL:0000790	"" []	202658	\N	\N	EFO	1	EFO	alpha-beta T cell	immature alpha-beta T cell
CL:0002420	CL:0000790	\N	"" []	CL:0000790	"" []	202659	\N	\N	EFO	1	EFO	immature T cell	immature alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000790	"" []	555571	\N	\N	EFO	2	EFO	T cell	immature alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000790	"" []	555572	\N	\N	EFO	2	EFO	T cell	immature alpha-beta T cell
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000790	"" []	555573	\N	\N	EFO	2	EFO	T cell	immature alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000790	"" []	1138236	\N	\N	EFO	3	EFO	lymphocyte	immature alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000790	"" []	1138237	\N	\N	EFO	3	EFO	lymphocyte	immature alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000790	"" []	2021318	\N	\N	EFO	4	EFO	leukocyte	immature alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000790	"" []	2021319	\N	\N	EFO	4	EFO	nongranular leukocyte	immature alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000790	"" []	3175964	\N	\N	EFO	5	EFO	hematopoietic cell	immature alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000790	"" []	3175965	\N	\N	EFO	5	EFO	leukocyte	immature alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000790	"" []	4386693	\N	\N	EFO	6	EFO	cell type	immature alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000790	"" []	4386694	\N	\N	EFO	6	EFO	hematopoietic cell	immature alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000790	"" []	5407835	\N	\N	EFO	7	EFO	material entity	immature alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000790	"" []	5407836	\N	\N	EFO	7	EFO	somatic cell	immature alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000790	"" []	6146858	\N	\N	EFO	8	EFO	experimental factor	immature alpha-beta T cell
CL:0000791	\N	\N	"" []	CL:0000791	"" []	63049	\N	\N	EFO	0	EFO	mature alpha-beta T cell	mature alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000791	"" []	202660	\N	\N	EFO	1	EFO	alpha-beta T cell	mature alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000791	"" []	202661	\N	\N	EFO	1	EFO	alpha-beta T cell	mature alpha-beta T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000791	"" []	202662	\N	\N	EFO	1	EFO	mature T cell	mature alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000791	"" []	555574	\N	\N	EFO	2	EFO	T cell	mature alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000791	"" []	555575	\N	\N	EFO	2	EFO	T cell	mature alpha-beta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000791	"" []	555576	\N	\N	EFO	2	EFO	T cell	mature alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000791	"" []	1138238	\N	\N	EFO	3	EFO	lymphocyte	mature alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000791	"" []	1138239	\N	\N	EFO	3	EFO	lymphocyte	mature alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000791	"" []	2021320	\N	\N	EFO	4	EFO	leukocyte	mature alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000791	"" []	2021321	\N	\N	EFO	4	EFO	nongranular leukocyte	mature alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000791	"" []	3175966	\N	\N	EFO	5	EFO	hematopoietic cell	mature alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000791	"" []	3175967	\N	\N	EFO	5	EFO	leukocyte	mature alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000791	"" []	4386695	\N	\N	EFO	6	EFO	cell type	mature alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000791	"" []	4386696	\N	\N	EFO	6	EFO	hematopoietic cell	mature alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000791	"" []	5407837	\N	\N	EFO	7	EFO	material entity	mature alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000791	"" []	5407838	\N	\N	EFO	7	EFO	somatic cell	mature alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000791	"" []	6146859	\N	\N	EFO	8	EFO	experimental factor	mature alpha-beta T cell
CL:0000792	\N	\N	"" []	CL:0000792	"" []	63050	\N	\N	EFO	0	EFO	CD4-positive, CD25-positive, alpha-beta regulatory T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000624	CL:0000792	\N	"" []	CL:0000792	"" []	202663	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000624	CL:0000792	\N	"" []	CL:0000792	"" []	202664	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000815	CL:0000792	\N	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	CL:0000792	"" []	202665	\N	\N	EFO	1	EFO	regulatory T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000792	"" []	555577	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000792	"" []	555578	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0002419	CL:0000815	\N	"" []	CL:0000792	"" []	555579	\N	\N	EFO	2	EFO	mature T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000792	"" []	1138240	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000792	"" []	1138241	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000792	"" []	1138242	\N	\N	EFO	3	EFO	mature T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000792	"" []	2021324	\N	\N	EFO	4	EFO	T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000792	"" []	2021322	\N	\N	EFO	4	EFO	T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000792	"" []	2021323	\N	\N	EFO	4	EFO	T cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000792	"" []	2999173	\N	\N	EFO	5	EFO	lymphocyte	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000792	"" []	3175968	\N	\N	EFO	5	EFO	lymphocyte	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000792	"" []	4132410	\N	\N	EFO	6	EFO	nongranular leukocyte	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000792	"" []	4386697	\N	\N	EFO	6	EFO	leukocyte	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000792	"" []	5180801	\N	\N	EFO	7	EFO	leukocyte	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000792	"" []	5407839	\N	\N	EFO	7	EFO	hematopoietic cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000792	"" []	5996486	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000792	"" []	6146860	\N	\N	EFO	8	EFO	cell type	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000792	"" []	6550314	\N	\N	EFO	9	EFO	somatic cell	CD4-positive, CD25-positive, alpha-beta regulatory T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000792	"" []	6631479	\N	\N	EFO	9	EFO	material entity	CD4-positive, CD25-positive, alpha-beta regulatory T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000792	"" []	6925125	\N	\N	EFO	10	EFO	experimental factor	CD4-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000793	\N	\N	"" []	CL:0000793	"" []	63051	\N	\N	EFO	0	EFO	CD4-positive, alpha-beta intraepithelial T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0000624	CL:0000793	\N	"" []	CL:0000793	"" []	202666	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0000624	CL:0000793	\N	"" []	CL:0000793	"" []	202667	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0000797	CL:0000793	\N	"" []	CL:0000793	"" []	202668	\N	\N	EFO	1	EFO	alpha-beta intraepithelial T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000793	"" []	555580	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000793	"" []	555581	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0000791	CL:0000797	\N	"" []	CL:0000793	"" []	555582	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0002496	CL:0000797	\N	"" []	CL:0000793	"" []	555583	\N	\N	EFO	2	EFO	intraepithelial lymphocyte	CD4-positive, alpha-beta intraepithelial T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000793	"" []	1138244	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000793	"" []	1138245	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000793	"" []	1138246	\N	\N	EFO	3	EFO	mature T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0002419	CL:0002496	\N	"" []	CL:0000793	"" []	1138247	\N	\N	EFO	3	EFO	mature T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000793	"" []	2021326	\N	\N	EFO	4	EFO	T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000793	"" []	2021327	\N	\N	EFO	4	EFO	T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000793	"" []	2021328	\N	\N	EFO	4	EFO	T cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000793	"" []	3175970	\N	\N	EFO	5	EFO	lymphocyte	CD4-positive, alpha-beta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000793	"" []	3175971	\N	\N	EFO	5	EFO	lymphocyte	CD4-positive, alpha-beta intraepithelial T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000793	"" []	4386699	\N	\N	EFO	6	EFO	leukocyte	CD4-positive, alpha-beta intraepithelial T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000793	"" []	4386700	\N	\N	EFO	6	EFO	nongranular leukocyte	CD4-positive, alpha-beta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000793	"" []	5407841	\N	\N	EFO	7	EFO	hematopoietic cell	CD4-positive, alpha-beta intraepithelial T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000793	"" []	5407842	\N	\N	EFO	7	EFO	leukocyte	CD4-positive, alpha-beta intraepithelial T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000793	"" []	6146862	\N	\N	EFO	8	EFO	cell type	CD4-positive, alpha-beta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000793	"" []	6146863	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-positive, alpha-beta intraepithelial T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000793	"" []	6631480	\N	\N	EFO	9	EFO	material entity	CD4-positive, alpha-beta intraepithelial T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000793	"" []	6631481	\N	\N	EFO	9	EFO	somatic cell	CD4-positive, alpha-beta intraepithelial T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000793	"" []	6925126	\N	\N	EFO	10	EFO	experimental factor	CD4-positive, alpha-beta intraepithelial T cell
CL:0000794	\N	\N	"" []	CL:0000794	"" []	63052	\N	\N	EFO	0	EFO	CD8-positive, alpha-beta cytotoxic T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000625	CL:0000794	\N	"" []	CL:0000794	"" []	202669	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000625	CL:0000794	\N	"" []	CL:0000794	"" []	202670	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000910	CL:0000794	\N	"" []	CL:0000794	"" []	202671	\N	\N	EFO	1	EFO	cytotoxic T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000794	"" []	555584	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000794	"" []	555585	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000911	CL:0000910	\N	"" []	CL:0000794	"" []	555586	\N	\N	EFO	2	EFO	effector T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000794	"" []	1138248	\N	\N	EFO	3	EFO	alpha-beta T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000794	"" []	1138249	\N	\N	EFO	3	EFO	alpha-beta T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000794	"" []	1138250	\N	\N	EFO	3	EFO	mature T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000794	"" []	1138251	\N	\N	EFO	3	EFO	mature T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000794	"" []	2021329	\N	\N	EFO	4	EFO	T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000794	"" []	2021330	\N	\N	EFO	4	EFO	T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000794	"" []	2021331	\N	\N	EFO	4	EFO	T cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000794	"" []	3175972	\N	\N	EFO	5	EFO	lymphocyte	CD8-positive, alpha-beta cytotoxic T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000794	"" []	3175973	\N	\N	EFO	5	EFO	lymphocyte	CD8-positive, alpha-beta cytotoxic T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000794	"" []	4386701	\N	\N	EFO	6	EFO	leukocyte	CD8-positive, alpha-beta cytotoxic T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000794	"" []	4386702	\N	\N	EFO	6	EFO	nongranular leukocyte	CD8-positive, alpha-beta cytotoxic T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000794	"" []	5407843	\N	\N	EFO	7	EFO	hematopoietic cell	CD8-positive, alpha-beta cytotoxic T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000794	"" []	5407844	\N	\N	EFO	7	EFO	leukocyte	CD8-positive, alpha-beta cytotoxic T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000794	"" []	6146864	\N	\N	EFO	8	EFO	cell type	CD8-positive, alpha-beta cytotoxic T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000794	"" []	6146865	\N	\N	EFO	8	EFO	hematopoietic cell	CD8-positive, alpha-beta cytotoxic T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000794	"" []	6631482	\N	\N	EFO	9	EFO	material entity	CD8-positive, alpha-beta cytotoxic T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000794	"" []	6631483	\N	\N	EFO	9	EFO	somatic cell	CD8-positive, alpha-beta cytotoxic T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000794	"" []	6925127	\N	\N	EFO	10	EFO	experimental factor	CD8-positive, alpha-beta cytotoxic T cell
CL:0000795	\N	\N	"" []	CL:0000795	"" []	63053	\N	\N	EFO	0	EFO	CD8-positive, alpha-beta regulatory T cell	CD8-positive, alpha-beta regulatory T cell
CL:0000625	CL:0000795	\N	"" []	CL:0000795	"" []	202672	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	CD8-positive, alpha-beta regulatory T cell
CL:0000625	CL:0000795	\N	"" []	CL:0000795	"" []	202673	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	CD8-positive, alpha-beta regulatory T cell
CL:0000815	CL:0000795	\N	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	CL:0000795	"" []	202674	\N	\N	EFO	1	EFO	regulatory T cell	CD8-positive, alpha-beta regulatory T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000795	"" []	555587	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD8-positive, alpha-beta regulatory T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000795	"" []	555588	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD8-positive, alpha-beta regulatory T cell
CL:0002419	CL:0000815	\N	"" []	CL:0000795	"" []	555589	\N	\N	EFO	2	EFO	mature T cell	CD8-positive, alpha-beta regulatory T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000795	"" []	1138252	\N	\N	EFO	3	EFO	alpha-beta T cell	CD8-positive, alpha-beta regulatory T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000795	"" []	1138253	\N	\N	EFO	3	EFO	alpha-beta T cell	CD8-positive, alpha-beta regulatory T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000795	"" []	1138254	\N	\N	EFO	3	EFO	mature T cell	CD8-positive, alpha-beta regulatory T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000795	"" []	2021334	\N	\N	EFO	4	EFO	T cell	CD8-positive, alpha-beta regulatory T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000795	"" []	2021332	\N	\N	EFO	4	EFO	T cell	CD8-positive, alpha-beta regulatory T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000795	"" []	2021333	\N	\N	EFO	4	EFO	T cell	CD8-positive, alpha-beta regulatory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000795	"" []	2999174	\N	\N	EFO	5	EFO	lymphocyte	CD8-positive, alpha-beta regulatory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000795	"" []	3175974	\N	\N	EFO	5	EFO	lymphocyte	CD8-positive, alpha-beta regulatory T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000795	"" []	4132411	\N	\N	EFO	6	EFO	nongranular leukocyte	CD8-positive, alpha-beta regulatory T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000795	"" []	4386703	\N	\N	EFO	6	EFO	leukocyte	CD8-positive, alpha-beta regulatory T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000795	"" []	5180802	\N	\N	EFO	7	EFO	leukocyte	CD8-positive, alpha-beta regulatory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000795	"" []	5407845	\N	\N	EFO	7	EFO	hematopoietic cell	CD8-positive, alpha-beta regulatory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000795	"" []	5996487	\N	\N	EFO	8	EFO	hematopoietic cell	CD8-positive, alpha-beta regulatory T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000795	"" []	6146866	\N	\N	EFO	8	EFO	cell type	CD8-positive, alpha-beta regulatory T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000795	"" []	6550315	\N	\N	EFO	9	EFO	somatic cell	CD8-positive, alpha-beta regulatory T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000795	"" []	6631484	\N	\N	EFO	9	EFO	material entity	CD8-positive, alpha-beta regulatory T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000795	"" []	6925128	\N	\N	EFO	10	EFO	experimental factor	CD8-positive, alpha-beta regulatory T cell
CL:0000796	\N	\N	"" []	CL:0000796	"" []	63054	\N	\N	EFO	0	EFO	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000797	CL:0000796	\N	"" []	CL:0000796	"" []	202675	\N	\N	EFO	1	EFO	alpha-beta intraepithelial T cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000797	CL:0000796	\N	"" []	CL:0000796	"" []	202676	\N	\N	EFO	1	EFO	alpha-beta intraepithelial T cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000791	CL:0000797	\N	"" []	CL:0000796	"" []	555590	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000791	CL:0000797	\N	"" []	CL:0000796	"" []	555591	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0002496	CL:0000797	\N	"" []	CL:0000796	"" []	555592	\N	\N	EFO	2	EFO	intraepithelial lymphocyte	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000796	"" []	1138256	\N	\N	EFO	3	EFO	alpha-beta T cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000796	"" []	1138257	\N	\N	EFO	3	EFO	alpha-beta T cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000796	"" []	1138258	\N	\N	EFO	3	EFO	mature T cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0002419	CL:0002496	\N	"" []	CL:0000796	"" []	1138259	\N	\N	EFO	3	EFO	mature T cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000796	"" []	2021336	\N	\N	EFO	4	EFO	T cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000796	"" []	2021337	\N	\N	EFO	4	EFO	T cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000796	"" []	2021338	\N	\N	EFO	4	EFO	T cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000796	"" []	3175976	\N	\N	EFO	5	EFO	lymphocyte	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000796	"" []	3175977	\N	\N	EFO	5	EFO	lymphocyte	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000796	"" []	4386705	\N	\N	EFO	6	EFO	leukocyte	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000796	"" []	4386706	\N	\N	EFO	6	EFO	nongranular leukocyte	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000796	"" []	5407847	\N	\N	EFO	7	EFO	hematopoietic cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000796	"" []	5407848	\N	\N	EFO	7	EFO	leukocyte	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000796	"" []	6146868	\N	\N	EFO	8	EFO	cell type	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000796	"" []	6146869	\N	\N	EFO	8	EFO	hematopoietic cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000796	"" []	6631485	\N	\N	EFO	9	EFO	material entity	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000796	"" []	6631486	\N	\N	EFO	9	EFO	somatic cell	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000796	"" []	6925129	\N	\N	EFO	10	EFO	experimental factor	CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
CL:0000797	\N	\N	"" []	CL:0000797	"" []	63055	\N	\N	EFO	0	EFO	alpha-beta intraepithelial T cell	alpha-beta intraepithelial T cell
CL:0000791	CL:0000797	\N	"" []	CL:0000797	"" []	202677	\N	\N	EFO	1	EFO	mature alpha-beta T cell	alpha-beta intraepithelial T cell
CL:0000791	CL:0000797	\N	"" []	CL:0000797	"" []	202678	\N	\N	EFO	1	EFO	mature alpha-beta T cell	alpha-beta intraepithelial T cell
CL:0002496	CL:0000797	\N	"" []	CL:0000797	"" []	202679	\N	\N	EFO	1	EFO	intraepithelial lymphocyte	alpha-beta intraepithelial T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000797	"" []	555593	\N	\N	EFO	2	EFO	alpha-beta T cell	alpha-beta intraepithelial T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000797	"" []	555594	\N	\N	EFO	2	EFO	alpha-beta T cell	alpha-beta intraepithelial T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000797	"" []	555595	\N	\N	EFO	2	EFO	mature T cell	alpha-beta intraepithelial T cell
CL:0002419	CL:0002496	\N	"" []	CL:0000797	"" []	555596	\N	\N	EFO	2	EFO	mature T cell	alpha-beta intraepithelial T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000797	"" []	1138260	\N	\N	EFO	3	EFO	T cell	alpha-beta intraepithelial T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000797	"" []	1138261	\N	\N	EFO	3	EFO	T cell	alpha-beta intraepithelial T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000797	"" []	1138262	\N	\N	EFO	3	EFO	T cell	alpha-beta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000797	"" []	2021339	\N	\N	EFO	4	EFO	lymphocyte	alpha-beta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000797	"" []	2021340	\N	\N	EFO	4	EFO	lymphocyte	alpha-beta intraepithelial T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000797	"" []	3175978	\N	\N	EFO	5	EFO	leukocyte	alpha-beta intraepithelial T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000797	"" []	3175979	\N	\N	EFO	5	EFO	nongranular leukocyte	alpha-beta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000797	"" []	4386707	\N	\N	EFO	6	EFO	hematopoietic cell	alpha-beta intraepithelial T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000797	"" []	4386708	\N	\N	EFO	6	EFO	leukocyte	alpha-beta intraepithelial T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000797	"" []	5407849	\N	\N	EFO	7	EFO	cell type	alpha-beta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000797	"" []	5407850	\N	\N	EFO	7	EFO	hematopoietic cell	alpha-beta intraepithelial T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000797	"" []	6146870	\N	\N	EFO	8	EFO	material entity	alpha-beta intraepithelial T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000797	"" []	6146871	\N	\N	EFO	8	EFO	somatic cell	alpha-beta intraepithelial T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000797	"" []	6631487	\N	\N	EFO	9	EFO	experimental factor	alpha-beta intraepithelial T cell
CL:0000798	\N	\N	"" []	CL:0000798	"" []	63056	\N	\N	EFO	0	EFO	gamma-delta T cell	gamma-delta T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000798	"" []	202680	\N	\N	EFO	1	EFO	T cell	gamma-delta T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000798	"" []	202681	\N	\N	EFO	1	EFO	T cell	gamma-delta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000798	"" []	555597	\N	\N	EFO	2	EFO	lymphocyte	gamma-delta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000798	"" []	555598	\N	\N	EFO	2	EFO	lymphocyte	gamma-delta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000798	"" []	1138263	\N	\N	EFO	3	EFO	leukocyte	gamma-delta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000798	"" []	1138264	\N	\N	EFO	3	EFO	nongranular leukocyte	gamma-delta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000798	"" []	2021341	\N	\N	EFO	4	EFO	hematopoietic cell	gamma-delta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000798	"" []	2021342	\N	\N	EFO	4	EFO	leukocyte	gamma-delta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000798	"" []	3175980	\N	\N	EFO	5	EFO	cell type	gamma-delta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000798	"" []	3175981	\N	\N	EFO	5	EFO	hematopoietic cell	gamma-delta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000798	"" []	4386709	\N	\N	EFO	6	EFO	material entity	gamma-delta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000798	"" []	4386710	\N	\N	EFO	6	EFO	somatic cell	gamma-delta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000798	"" []	5407851	\N	\N	EFO	7	EFO	experimental factor	gamma-delta T cell
CL:0000799	\N	\N	"" []	CL:0000799	"" []	63057	\N	\N	EFO	0	EFO	immature gamma-delta T cell	immature gamma-delta T cell
CL:0000798	CL:0000799	\N	"" []	CL:0000799	"" []	202682	\N	\N	EFO	1	EFO	gamma-delta T cell	immature gamma-delta T cell
CL:0000798	CL:0000799	\N	"" []	CL:0000799	"" []	202683	\N	\N	EFO	1	EFO	gamma-delta T cell	immature gamma-delta T cell
CL:0002420	CL:0000799	\N	"" []	CL:0000799	"" []	202684	\N	\N	EFO	1	EFO	immature T cell	immature gamma-delta T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000799	"" []	555599	\N	\N	EFO	2	EFO	T cell	immature gamma-delta T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000799	"" []	555600	\N	\N	EFO	2	EFO	T cell	immature gamma-delta T cell
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000799	"" []	555601	\N	\N	EFO	2	EFO	T cell	immature gamma-delta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000799	"" []	1138265	\N	\N	EFO	3	EFO	lymphocyte	immature gamma-delta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000799	"" []	1138266	\N	\N	EFO	3	EFO	lymphocyte	immature gamma-delta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000799	"" []	2021343	\N	\N	EFO	4	EFO	leukocyte	immature gamma-delta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000799	"" []	2021344	\N	\N	EFO	4	EFO	nongranular leukocyte	immature gamma-delta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000799	"" []	3175982	\N	\N	EFO	5	EFO	hematopoietic cell	immature gamma-delta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000799	"" []	3175983	\N	\N	EFO	5	EFO	leukocyte	immature gamma-delta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000799	"" []	4386711	\N	\N	EFO	6	EFO	cell type	immature gamma-delta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000799	"" []	4386712	\N	\N	EFO	6	EFO	hematopoietic cell	immature gamma-delta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000799	"" []	5407852	\N	\N	EFO	7	EFO	material entity	immature gamma-delta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000799	"" []	5407853	\N	\N	EFO	7	EFO	somatic cell	immature gamma-delta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000799	"" []	6146872	\N	\N	EFO	8	EFO	experimental factor	immature gamma-delta T cell
CL:0000800	\N	\N	"" []	CL:0000800	"" []	63058	\N	\N	EFO	0	EFO	mature gamma-delta T cell	mature gamma-delta T cell
CL:0000798	CL:0000800	\N	"" []	CL:0000800	"" []	202685	\N	\N	EFO	1	EFO	gamma-delta T cell	mature gamma-delta T cell
CL:0000798	CL:0000800	\N	"" []	CL:0000800	"" []	202686	\N	\N	EFO	1	EFO	gamma-delta T cell	mature gamma-delta T cell
CL:0002419	CL:0000800	\N	"" []	CL:0000800	"" []	202687	\N	\N	EFO	1	EFO	mature T cell	mature gamma-delta T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000800	"" []	555602	\N	\N	EFO	2	EFO	T cell	mature gamma-delta T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000800	"" []	555603	\N	\N	EFO	2	EFO	T cell	mature gamma-delta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000800	"" []	555604	\N	\N	EFO	2	EFO	T cell	mature gamma-delta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000800	"" []	1138267	\N	\N	EFO	3	EFO	lymphocyte	mature gamma-delta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000800	"" []	1138268	\N	\N	EFO	3	EFO	lymphocyte	mature gamma-delta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000800	"" []	2021345	\N	\N	EFO	4	EFO	leukocyte	mature gamma-delta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000800	"" []	2021346	\N	\N	EFO	4	EFO	nongranular leukocyte	mature gamma-delta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000800	"" []	3175984	\N	\N	EFO	5	EFO	hematopoietic cell	mature gamma-delta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000800	"" []	3175985	\N	\N	EFO	5	EFO	leukocyte	mature gamma-delta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000800	"" []	4386713	\N	\N	EFO	6	EFO	cell type	mature gamma-delta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000800	"" []	4386714	\N	\N	EFO	6	EFO	hematopoietic cell	mature gamma-delta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000800	"" []	5407854	\N	\N	EFO	7	EFO	material entity	mature gamma-delta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000800	"" []	5407855	\N	\N	EFO	7	EFO	somatic cell	mature gamma-delta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000800	"" []	6146873	\N	\N	EFO	8	EFO	experimental factor	mature gamma-delta T cell
CL:0000801	\N	\N	"" []	CL:0000801	"" []	63059	\N	\N	EFO	0	EFO	gamma-delta intraepithelial T cell	gamma-delta intraepithelial T cell
CL:0000800	CL:0000801	\N	"" []	CL:0000801	"" []	202688	\N	\N	EFO	1	EFO	mature gamma-delta T cell	gamma-delta intraepithelial T cell
CL:0000800	CL:0000801	\N	"" []	CL:0000801	"" []	202689	\N	\N	EFO	1	EFO	mature gamma-delta T cell	gamma-delta intraepithelial T cell
CL:0002496	CL:0000801	\N	"" []	CL:0000801	"" []	202690	\N	\N	EFO	1	EFO	intraepithelial lymphocyte	gamma-delta intraepithelial T cell
CL:0000798	CL:0000800	\N	"" []	CL:0000801	"" []	555605	\N	\N	EFO	2	EFO	gamma-delta T cell	gamma-delta intraepithelial T cell
CL:0000798	CL:0000800	\N	"" []	CL:0000801	"" []	555606	\N	\N	EFO	2	EFO	gamma-delta T cell	gamma-delta intraepithelial T cell
CL:0002419	CL:0000800	\N	"" []	CL:0000801	"" []	555607	\N	\N	EFO	2	EFO	mature T cell	gamma-delta intraepithelial T cell
CL:0002419	CL:0002496	\N	"" []	CL:0000801	"" []	555608	\N	\N	EFO	2	EFO	mature T cell	gamma-delta intraepithelial T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000801	"" []	1138269	\N	\N	EFO	3	EFO	T cell	gamma-delta intraepithelial T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000801	"" []	1138270	\N	\N	EFO	3	EFO	T cell	gamma-delta intraepithelial T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000801	"" []	1138271	\N	\N	EFO	3	EFO	T cell	gamma-delta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000801	"" []	2021347	\N	\N	EFO	4	EFO	lymphocyte	gamma-delta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000801	"" []	2021348	\N	\N	EFO	4	EFO	lymphocyte	gamma-delta intraepithelial T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000801	"" []	3175986	\N	\N	EFO	5	EFO	leukocyte	gamma-delta intraepithelial T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000801	"" []	3175987	\N	\N	EFO	5	EFO	nongranular leukocyte	gamma-delta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000801	"" []	4386715	\N	\N	EFO	6	EFO	hematopoietic cell	gamma-delta intraepithelial T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000801	"" []	4386716	\N	\N	EFO	6	EFO	leukocyte	gamma-delta intraepithelial T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000801	"" []	5407856	\N	\N	EFO	7	EFO	cell type	gamma-delta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000801	"" []	5407857	\N	\N	EFO	7	EFO	hematopoietic cell	gamma-delta intraepithelial T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000801	"" []	6146874	\N	\N	EFO	8	EFO	material entity	gamma-delta intraepithelial T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000801	"" []	6146875	\N	\N	EFO	8	EFO	somatic cell	gamma-delta intraepithelial T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000801	"" []	6631488	\N	\N	EFO	9	EFO	experimental factor	gamma-delta intraepithelial T cell
CL:0000802	\N	\N	"" []	CL:0000802	"" []	63060	\N	\N	EFO	0	EFO	CD8-alpha alpha positive, gamma-delta intraepithelial T cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000801	CL:0000802	\N	"" []	CL:0000802	"" []	202691	\N	\N	EFO	1	EFO	gamma-delta intraepithelial T cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000801	CL:0000802	\N	"" []	CL:0000802	"" []	202692	\N	\N	EFO	1	EFO	gamma-delta intraepithelial T cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000800	CL:0000801	\N	"" []	CL:0000802	"" []	555609	\N	\N	EFO	2	EFO	mature gamma-delta T cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000800	CL:0000801	\N	"" []	CL:0000802	"" []	555610	\N	\N	EFO	2	EFO	mature gamma-delta T cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0002496	CL:0000801	\N	"" []	CL:0000802	"" []	555611	\N	\N	EFO	2	EFO	intraepithelial lymphocyte	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000798	CL:0000800	\N	"" []	CL:0000802	"" []	1138272	\N	\N	EFO	3	EFO	gamma-delta T cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000798	CL:0000800	\N	"" []	CL:0000802	"" []	1138273	\N	\N	EFO	3	EFO	gamma-delta T cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0002419	CL:0000800	\N	"" []	CL:0000802	"" []	1138274	\N	\N	EFO	3	EFO	mature T cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0002419	CL:0002496	\N	"" []	CL:0000802	"" []	1138275	\N	\N	EFO	3	EFO	mature T cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000802	"" []	2021349	\N	\N	EFO	4	EFO	T cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000802	"" []	2021350	\N	\N	EFO	4	EFO	T cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000802	"" []	2021351	\N	\N	EFO	4	EFO	T cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000802	"" []	3175988	\N	\N	EFO	5	EFO	lymphocyte	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000802	"" []	3175989	\N	\N	EFO	5	EFO	lymphocyte	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000802	"" []	4386717	\N	\N	EFO	6	EFO	leukocyte	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000802	"" []	4386718	\N	\N	EFO	6	EFO	nongranular leukocyte	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000802	"" []	5407858	\N	\N	EFO	7	EFO	hematopoietic cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000802	"" []	5407859	\N	\N	EFO	7	EFO	leukocyte	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000802	"" []	6146876	\N	\N	EFO	8	EFO	cell type	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000802	"" []	6146877	\N	\N	EFO	8	EFO	hematopoietic cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000802	"" []	6631489	\N	\N	EFO	9	EFO	material entity	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000802	"" []	6631490	\N	\N	EFO	9	EFO	somatic cell	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000802	"" []	6925130	\N	\N	EFO	10	EFO	experimental factor	CD8-alpha alpha positive, gamma-delta intraepithelial T cell
CL:0000803	\N	\N	"" []	CL:0000803	"" []	63061	\N	\N	EFO	0	EFO	CD4-negative CD8-negative gamma-delta intraepithelial T cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000801	CL:0000803	\N	"" []	CL:0000803	"" []	202693	\N	\N	EFO	1	EFO	gamma-delta intraepithelial T cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000801	CL:0000803	\N	"" []	CL:0000803	"" []	202694	\N	\N	EFO	1	EFO	gamma-delta intraepithelial T cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000800	CL:0000801	\N	"" []	CL:0000803	"" []	555612	\N	\N	EFO	2	EFO	mature gamma-delta T cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000800	CL:0000801	\N	"" []	CL:0000803	"" []	555613	\N	\N	EFO	2	EFO	mature gamma-delta T cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0002496	CL:0000801	\N	"" []	CL:0000803	"" []	555614	\N	\N	EFO	2	EFO	intraepithelial lymphocyte	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000798	CL:0000800	\N	"" []	CL:0000803	"" []	1138276	\N	\N	EFO	3	EFO	gamma-delta T cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000798	CL:0000800	\N	"" []	CL:0000803	"" []	1138277	\N	\N	EFO	3	EFO	gamma-delta T cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0002419	CL:0000800	\N	"" []	CL:0000803	"" []	1138278	\N	\N	EFO	3	EFO	mature T cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0002419	CL:0002496	\N	"" []	CL:0000803	"" []	1138279	\N	\N	EFO	3	EFO	mature T cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000803	"" []	2021352	\N	\N	EFO	4	EFO	T cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000803	"" []	2021353	\N	\N	EFO	4	EFO	T cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000803	"" []	2021354	\N	\N	EFO	4	EFO	T cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000803	"" []	3175990	\N	\N	EFO	5	EFO	lymphocyte	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000803	"" []	3175991	\N	\N	EFO	5	EFO	lymphocyte	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000803	"" []	4386719	\N	\N	EFO	6	EFO	leukocyte	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000803	"" []	4386720	\N	\N	EFO	6	EFO	nongranular leukocyte	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000803	"" []	5407860	\N	\N	EFO	7	EFO	hematopoietic cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000803	"" []	5407861	\N	\N	EFO	7	EFO	leukocyte	CD4-negative CD8-negative gamma-delta intraepithelial T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000803	"" []	6146878	\N	\N	EFO	8	EFO	cell type	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000803	"" []	6146879	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000803	"" []	6631491	\N	\N	EFO	9	EFO	material entity	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000803	"" []	6631492	\N	\N	EFO	9	EFO	somatic cell	CD4-negative CD8-negative gamma-delta intraepithelial T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000803	"" []	6925131	\N	\N	EFO	10	EFO	experimental factor	CD4-negative CD8-negative gamma-delta intraepithelial T cell
CL:0000805	\N	\N	"" []	CL:0000805	"" []	63062	\N	\N	EFO	0	EFO	immature single positive thymocyte	immature single positive thymocyte
CL:0000893	CL:0000805	\N	"An immature T cell located in the thymus." []	CL:0000805	"" []	202695	\N	\N	EFO	1	EFO	thymocyte	immature single positive thymocyte
CL:0000893	CL:0000805	\N	"An immature T cell located in the thymus." []	CL:0000805	"" []	202696	\N	\N	EFO	1	EFO	thymocyte	immature single positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000805	"" []	555615	\N	\N	EFO	2	EFO	immature T cell	immature single positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000805	"" []	555616	\N	\N	EFO	2	EFO	immature T cell	immature single positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000805	"" []	1138280	\N	\N	EFO	3	EFO	T cell	immature single positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000805	"" []	1138281	\N	\N	EFO	3	EFO	T cell	immature single positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000805	"" []	2021355	\N	\N	EFO	4	EFO	lymphocyte	immature single positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000805	"" []	2021356	\N	\N	EFO	4	EFO	lymphocyte	immature single positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000805	"" []	3175992	\N	\N	EFO	5	EFO	leukocyte	immature single positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0000805	"" []	3175993	\N	\N	EFO	5	EFO	nongranular leukocyte	immature single positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000805	"" []	4386721	\N	\N	EFO	6	EFO	hematopoietic cell	immature single positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000805	"" []	4386722	\N	\N	EFO	6	EFO	leukocyte	immature single positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000805	"" []	5407862	\N	\N	EFO	7	EFO	cell type	immature single positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000805	"" []	5407863	\N	\N	EFO	7	EFO	hematopoietic cell	immature single positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000805	"" []	6146880	\N	\N	EFO	8	EFO	material entity	immature single positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000805	"" []	6146881	\N	\N	EFO	8	EFO	somatic cell	immature single positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000805	"" []	6631493	\N	\N	EFO	9	EFO	experimental factor	immature single positive thymocyte
CL:0000806	\N	\N	"" []	CL:0000806	"" []	63063	\N	\N	EFO	0	EFO	DN2 thymocyte	DN2 thymocyte
CL:0000893	CL:0000806	\N	"An immature T cell located in the thymus." []	CL:0000806	"" []	202697	\N	\N	EFO	1	EFO	thymocyte	DN2 thymocyte
CL:0002489	CL:0000806	\N	"" []	CL:0000806	"" []	202698	\N	\N	EFO	1	EFO	double negative thymocyte	DN2 thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000806	"" []	555617	\N	\N	EFO	2	EFO	immature T cell	DN2 thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0000806	"" []	555618	\N	\N	EFO	2	EFO	thymocyte	DN2 thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000806	"" []	1138282	\N	\N	EFO	3	EFO	T cell	DN2 thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000806	"" []	1138283	\N	\N	EFO	3	EFO	immature T cell	DN2 thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000806	"" []	2021357	\N	\N	EFO	4	EFO	lymphocyte	DN2 thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000806	"" []	2021358	\N	\N	EFO	4	EFO	T cell	DN2 thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000806	"" []	3175994	\N	\N	EFO	5	EFO	leukocyte	DN2 thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000806	"" []	3175995	\N	\N	EFO	5	EFO	lymphocyte	DN2 thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000806	"" []	4386723	\N	\N	EFO	6	EFO	hematopoietic cell	DN2 thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0000806	"" []	4386724	\N	\N	EFO	6	EFO	nongranular leukocyte	DN2 thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000806	"" []	5407864	\N	\N	EFO	7	EFO	cell type	DN2 thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000806	"" []	5407865	\N	\N	EFO	7	EFO	leukocyte	DN2 thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000806	"" []	6146882	\N	\N	EFO	8	EFO	material entity	DN2 thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000806	"" []	6146883	\N	\N	EFO	8	EFO	hematopoietic cell	DN2 thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000806	"" []	6631494	\N	\N	EFO	9	EFO	experimental factor	DN2 thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000806	"" []	6631495	\N	\N	EFO	9	EFO	somatic cell	DN2 thymocyte
CL:0000807	\N	\N	"" []	CL:0000807	"" []	63064	\N	\N	EFO	0	EFO	DN3 thymocyte	DN3 thymocyte
CL:0000893	CL:0000807	\N	"An immature T cell located in the thymus." []	CL:0000807	"" []	202699	\N	\N	EFO	1	EFO	thymocyte	DN3 thymocyte
CL:0002489	CL:0000807	\N	"" []	CL:0000807	"" []	202700	\N	\N	EFO	1	EFO	double negative thymocyte	DN3 thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000807	"" []	555619	\N	\N	EFO	2	EFO	immature T cell	DN3 thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0000807	"" []	555620	\N	\N	EFO	2	EFO	thymocyte	DN3 thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000807	"" []	1138284	\N	\N	EFO	3	EFO	T cell	DN3 thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000807	"" []	1138285	\N	\N	EFO	3	EFO	immature T cell	DN3 thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000807	"" []	2021359	\N	\N	EFO	4	EFO	lymphocyte	DN3 thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000807	"" []	2021360	\N	\N	EFO	4	EFO	T cell	DN3 thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000807	"" []	3175996	\N	\N	EFO	5	EFO	leukocyte	DN3 thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000807	"" []	3175997	\N	\N	EFO	5	EFO	lymphocyte	DN3 thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000807	"" []	4386725	\N	\N	EFO	6	EFO	hematopoietic cell	DN3 thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0000807	"" []	4386726	\N	\N	EFO	6	EFO	nongranular leukocyte	DN3 thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000807	"" []	5407866	\N	\N	EFO	7	EFO	cell type	DN3 thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000807	"" []	5407867	\N	\N	EFO	7	EFO	leukocyte	DN3 thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000807	"" []	6146884	\N	\N	EFO	8	EFO	material entity	DN3 thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000807	"" []	6146885	\N	\N	EFO	8	EFO	hematopoietic cell	DN3 thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000807	"" []	6631496	\N	\N	EFO	9	EFO	experimental factor	DN3 thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000807	"" []	6631497	\N	\N	EFO	9	EFO	somatic cell	DN3 thymocyte
CL:0000808	\N	\N	"" []	CL:0000808	"" []	63065	\N	\N	EFO	0	EFO	DN4 thymocyte	DN4 thymocyte
CL:0000893	CL:0000808	\N	"An immature T cell located in the thymus." []	CL:0000808	"" []	202701	\N	\N	EFO	1	EFO	thymocyte	DN4 thymocyte
CL:0002489	CL:0000808	\N	"" []	CL:0000808	"" []	202702	\N	\N	EFO	1	EFO	double negative thymocyte	DN4 thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000808	"" []	555621	\N	\N	EFO	2	EFO	immature T cell	DN4 thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0000808	"" []	555622	\N	\N	EFO	2	EFO	thymocyte	DN4 thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000808	"" []	1138286	\N	\N	EFO	3	EFO	T cell	DN4 thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000808	"" []	1138287	\N	\N	EFO	3	EFO	immature T cell	DN4 thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000808	"" []	2021361	\N	\N	EFO	4	EFO	lymphocyte	DN4 thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000808	"" []	2021362	\N	\N	EFO	4	EFO	T cell	DN4 thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000808	"" []	3175998	\N	\N	EFO	5	EFO	leukocyte	DN4 thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000808	"" []	3175999	\N	\N	EFO	5	EFO	lymphocyte	DN4 thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000808	"" []	4386727	\N	\N	EFO	6	EFO	hematopoietic cell	DN4 thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0000808	"" []	4386728	\N	\N	EFO	6	EFO	nongranular leukocyte	DN4 thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000808	"" []	5407868	\N	\N	EFO	7	EFO	cell type	DN4 thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000808	"" []	5407869	\N	\N	EFO	7	EFO	leukocyte	DN4 thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000808	"" []	6146886	\N	\N	EFO	8	EFO	material entity	DN4 thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000808	"" []	6146887	\N	\N	EFO	8	EFO	hematopoietic cell	DN4 thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000808	"" []	6631498	\N	\N	EFO	9	EFO	experimental factor	DN4 thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000808	"" []	6631499	\N	\N	EFO	9	EFO	somatic cell	DN4 thymocyte
CL:0000809	\N	\N	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	63066	\N	\N	EFO	0	EFO	double-positive, alpha-beta thymocyte	double-positive, alpha-beta thymocyte
CL:0000790	CL:0000809	\N	"" []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	202703	\N	\N	EFO	1	EFO	immature alpha-beta T cell	double-positive, alpha-beta thymocyte
CL:0000790	CL:0000809	\N	"" []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	202704	\N	\N	EFO	1	EFO	immature alpha-beta T cell	double-positive, alpha-beta thymocyte
CL:0000893	CL:0000809	\N	"An immature T cell located in the thymus." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	202705	\N	\N	EFO	1	EFO	thymocyte	double-positive, alpha-beta thymocyte
CL:0000893	CL:0000809	\N	"An immature T cell located in the thymus." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	202706	\N	\N	EFO	1	EFO	thymocyte	double-positive, alpha-beta thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	555623	\N	\N	EFO	2	EFO	alpha-beta T cell	double-positive, alpha-beta thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	555624	\N	\N	EFO	2	EFO	alpha-beta T cell	double-positive, alpha-beta thymocyte
CL:0002420	CL:0000790	\N	"" []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	555625	\N	\N	EFO	2	EFO	immature T cell	double-positive, alpha-beta thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	555626	\N	\N	EFO	2	EFO	immature T cell	double-positive, alpha-beta thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	555627	\N	\N	EFO	2	EFO	immature T cell	double-positive, alpha-beta thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	1138288	\N	\N	EFO	3	EFO	T cell	double-positive, alpha-beta thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	1138289	\N	\N	EFO	3	EFO	T cell	double-positive, alpha-beta thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	1138290	\N	\N	EFO	3	EFO	T cell	double-positive, alpha-beta thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	1138291	\N	\N	EFO	3	EFO	T cell	double-positive, alpha-beta thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	2021363	\N	\N	EFO	4	EFO	lymphocyte	double-positive, alpha-beta thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	2021364	\N	\N	EFO	4	EFO	lymphocyte	double-positive, alpha-beta thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	3176000	\N	\N	EFO	5	EFO	leukocyte	double-positive, alpha-beta thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	3176001	\N	\N	EFO	5	EFO	nongranular leukocyte	double-positive, alpha-beta thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	4386729	\N	\N	EFO	6	EFO	hematopoietic cell	double-positive, alpha-beta thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	4386730	\N	\N	EFO	6	EFO	leukocyte	double-positive, alpha-beta thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	5407870	\N	\N	EFO	7	EFO	cell type	double-positive, alpha-beta thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	5407871	\N	\N	EFO	7	EFO	hematopoietic cell	double-positive, alpha-beta thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	6146888	\N	\N	EFO	8	EFO	material entity	double-positive, alpha-beta thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	6146889	\N	\N	EFO	8	EFO	somatic cell	double-positive, alpha-beta thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000809	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	6631500	\N	\N	EFO	9	EFO	experimental factor	double-positive, alpha-beta thymocyte
CL:0000810	\N	\N	"" []	CL:0000810	"" []	63067	\N	\N	EFO	0	EFO	CD4-positive, alpha-beta thymocyte	CD4-positive, alpha-beta thymocyte
CL:0000790	CL:0000810	\N	"" []	CL:0000810	"" []	202707	\N	\N	EFO	1	EFO	immature alpha-beta T cell	CD4-positive, alpha-beta thymocyte
CL:0000790	CL:0000810	\N	"" []	CL:0000810	"" []	202708	\N	\N	EFO	1	EFO	immature alpha-beta T cell	CD4-positive, alpha-beta thymocyte
CL:0000893	CL:0000810	\N	"An immature T cell located in the thymus." []	CL:0000810	"" []	202709	\N	\N	EFO	1	EFO	thymocyte	CD4-positive, alpha-beta thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0000810	"" []	555628	\N	\N	EFO	2	EFO	alpha-beta T cell	CD4-positive, alpha-beta thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0000810	"" []	555629	\N	\N	EFO	2	EFO	alpha-beta T cell	CD4-positive, alpha-beta thymocyte
CL:0002420	CL:0000790	\N	"" []	CL:0000810	"" []	555630	\N	\N	EFO	2	EFO	immature T cell	CD4-positive, alpha-beta thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000810	"" []	555631	\N	\N	EFO	2	EFO	immature T cell	CD4-positive, alpha-beta thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000810	"" []	1138292	\N	\N	EFO	3	EFO	T cell	CD4-positive, alpha-beta thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000810	"" []	1138293	\N	\N	EFO	3	EFO	T cell	CD4-positive, alpha-beta thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000810	"" []	1138294	\N	\N	EFO	3	EFO	T cell	CD4-positive, alpha-beta thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000810	"" []	2021365	\N	\N	EFO	4	EFO	lymphocyte	CD4-positive, alpha-beta thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000810	"" []	2021366	\N	\N	EFO	4	EFO	lymphocyte	CD4-positive, alpha-beta thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000810	"" []	3176002	\N	\N	EFO	5	EFO	leukocyte	CD4-positive, alpha-beta thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0000810	"" []	3176003	\N	\N	EFO	5	EFO	nongranular leukocyte	CD4-positive, alpha-beta thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000810	"" []	4386731	\N	\N	EFO	6	EFO	hematopoietic cell	CD4-positive, alpha-beta thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000810	"" []	4386732	\N	\N	EFO	6	EFO	leukocyte	CD4-positive, alpha-beta thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000810	"" []	5407872	\N	\N	EFO	7	EFO	cell type	CD4-positive, alpha-beta thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000810	"" []	5407873	\N	\N	EFO	7	EFO	hematopoietic cell	CD4-positive, alpha-beta thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000810	"" []	6146890	\N	\N	EFO	8	EFO	material entity	CD4-positive, alpha-beta thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000810	"" []	6146891	\N	\N	EFO	8	EFO	somatic cell	CD4-positive, alpha-beta thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000810	"" []	6631501	\N	\N	EFO	9	EFO	experimental factor	CD4-positive, alpha-beta thymocyte
CL:0000811	\N	\N	"" []	CL:0000811	"" []	63068	\N	\N	EFO	0	EFO	CD8-positive, alpha-beta thymocyte	CD8-positive, alpha-beta thymocyte
CL:0000790	CL:0000811	\N	"" []	CL:0000811	"" []	202710	\N	\N	EFO	1	EFO	immature alpha-beta T cell	CD8-positive, alpha-beta thymocyte
CL:0000790	CL:0000811	\N	"" []	CL:0000811	"" []	202711	\N	\N	EFO	1	EFO	immature alpha-beta T cell	CD8-positive, alpha-beta thymocyte
CL:0000893	CL:0000811	\N	"An immature T cell located in the thymus." []	CL:0000811	"" []	202712	\N	\N	EFO	1	EFO	thymocyte	CD8-positive, alpha-beta thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0000811	"" []	555632	\N	\N	EFO	2	EFO	alpha-beta T cell	CD8-positive, alpha-beta thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0000811	"" []	555633	\N	\N	EFO	2	EFO	alpha-beta T cell	CD8-positive, alpha-beta thymocyte
CL:0002420	CL:0000790	\N	"" []	CL:0000811	"" []	555634	\N	\N	EFO	2	EFO	immature T cell	CD8-positive, alpha-beta thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000811	"" []	555635	\N	\N	EFO	2	EFO	immature T cell	CD8-positive, alpha-beta thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000811	"" []	1138295	\N	\N	EFO	3	EFO	T cell	CD8-positive, alpha-beta thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000811	"" []	1138296	\N	\N	EFO	3	EFO	T cell	CD8-positive, alpha-beta thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000811	"" []	1138297	\N	\N	EFO	3	EFO	T cell	CD8-positive, alpha-beta thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000811	"" []	2021367	\N	\N	EFO	4	EFO	lymphocyte	CD8-positive, alpha-beta thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000811	"" []	2021368	\N	\N	EFO	4	EFO	lymphocyte	CD8-positive, alpha-beta thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000811	"" []	3176004	\N	\N	EFO	5	EFO	leukocyte	CD8-positive, alpha-beta thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0000811	"" []	3176005	\N	\N	EFO	5	EFO	nongranular leukocyte	CD8-positive, alpha-beta thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000811	"" []	4386733	\N	\N	EFO	6	EFO	hematopoietic cell	CD8-positive, alpha-beta thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000811	"" []	4386734	\N	\N	EFO	6	EFO	leukocyte	CD8-positive, alpha-beta thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000811	"" []	5407874	\N	\N	EFO	7	EFO	cell type	CD8-positive, alpha-beta thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000811	"" []	5407875	\N	\N	EFO	7	EFO	hematopoietic cell	CD8-positive, alpha-beta thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000811	"" []	6146892	\N	\N	EFO	8	EFO	material entity	CD8-positive, alpha-beta thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000811	"" []	6146893	\N	\N	EFO	8	EFO	somatic cell	CD8-positive, alpha-beta thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000811	"" []	6631502	\N	\N	EFO	9	EFO	experimental factor	CD8-positive, alpha-beta thymocyte
CL:0000813	\N	\N	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	63069	\N	\N	EFO	0	EFO	memory T cell	memory T cell
CL:0002419	CL:0000813	\N	"" []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	202713	\N	\N	EFO	1	EFO	mature T cell	memory T cell
CL:0002419	CL:0000813	\N	"" []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	202714	\N	\N	EFO	1	EFO	mature T cell	memory T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	555636	\N	\N	EFO	2	EFO	T cell	memory T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	555637	\N	\N	EFO	2	EFO	T cell	memory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	1138298	\N	\N	EFO	3	EFO	lymphocyte	memory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	1138299	\N	\N	EFO	3	EFO	lymphocyte	memory T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	2021369	\N	\N	EFO	4	EFO	leukocyte	memory T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	2021370	\N	\N	EFO	4	EFO	nongranular leukocyte	memory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	3176006	\N	\N	EFO	5	EFO	hematopoietic cell	memory T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	3176007	\N	\N	EFO	5	EFO	leukocyte	memory T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	4386735	\N	\N	EFO	6	EFO	cell type	memory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	4386736	\N	\N	EFO	6	EFO	hematopoietic cell	memory T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	5407876	\N	\N	EFO	7	EFO	material entity	memory T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	5407877	\N	\N	EFO	7	EFO	somatic cell	memory T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000813	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	6146894	\N	\N	EFO	8	EFO	experimental factor	memory T cell
CL:0000814	\N	\N	"" []	CL:0000814	"" []	63070	\N	\N	EFO	0	EFO	mature NK T cell	mature NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000814	"" []	202715	\N	\N	EFO	1	EFO	mature alpha-beta T cell	mature NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000814	"" []	202716	\N	\N	EFO	1	EFO	mature alpha-beta T cell	mature NK T cell
CL:0002127	CL:0000814	\N	"" []	CL:0000814	"" []	202717	\N	\N	EFO	1	EFO	innate effector T cell	mature NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000814	"" []	555638	\N	\N	EFO	2	EFO	alpha-beta T cell	mature NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000814	"" []	555639	\N	\N	EFO	2	EFO	alpha-beta T cell	mature NK T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000814	"" []	555640	\N	\N	EFO	2	EFO	mature T cell	mature NK T cell
CL:0000911	CL:0002127	\N	"" []	CL:0000814	"" []	555641	\N	\N	EFO	2	EFO	effector T cell	mature NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000814	"" []	1138300	\N	\N	EFO	3	EFO	T cell	mature NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000814	"" []	1138301	\N	\N	EFO	3	EFO	T cell	mature NK T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000814	"" []	2021373	\N	\N	EFO	4	EFO	T cell	mature NK T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000814	"" []	1138303	\N	\N	EFO	3	EFO	mature T cell	mature NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000814	"" []	2021371	\N	\N	EFO	4	EFO	lymphocyte	mature NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000814	"" []	2999175	\N	\N	EFO	5	EFO	lymphocyte	mature NK T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000814	"" []	3176008	\N	\N	EFO	5	EFO	leukocyte	mature NK T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000814	"" []	4132412	\N	\N	EFO	6	EFO	nongranular leukocyte	mature NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000814	"" []	4386737	\N	\N	EFO	6	EFO	hematopoietic cell	mature NK T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000814	"" []	5180803	\N	\N	EFO	7	EFO	leukocyte	mature NK T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000814	"" []	5407878	\N	\N	EFO	7	EFO	cell type	mature NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000814	"" []	5996488	\N	\N	EFO	8	EFO	hematopoietic cell	mature NK T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000814	"" []	6146895	\N	\N	EFO	8	EFO	material entity	mature NK T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000814	"" []	6550316	\N	\N	EFO	9	EFO	somatic cell	mature NK T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000814	"" []	6631503	\N	\N	EFO	9	EFO	experimental factor	mature NK T cell
CL:0000815	\N	\N	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	63071	\N	\N	EFO	0	EFO	regulatory T cell	regulatory T cell
CL:0002419	CL:0000815	\N	"" []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	202718	\N	\N	EFO	1	EFO	mature T cell	regulatory T cell
CL:0002419	CL:0000815	\N	"" []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	202719	\N	\N	EFO	1	EFO	mature T cell	regulatory T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	555642	\N	\N	EFO	2	EFO	T cell	regulatory T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	555643	\N	\N	EFO	2	EFO	T cell	regulatory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	1138304	\N	\N	EFO	3	EFO	lymphocyte	regulatory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	1138305	\N	\N	EFO	3	EFO	lymphocyte	regulatory T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	2021374	\N	\N	EFO	4	EFO	leukocyte	regulatory T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	2021375	\N	\N	EFO	4	EFO	nongranular leukocyte	regulatory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	3176010	\N	\N	EFO	5	EFO	hematopoietic cell	regulatory T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	3176011	\N	\N	EFO	5	EFO	leukocyte	regulatory T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	4386739	\N	\N	EFO	6	EFO	cell type	regulatory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	4386740	\N	\N	EFO	6	EFO	hematopoietic cell	regulatory T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	5407880	\N	\N	EFO	7	EFO	material entity	regulatory T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	5407881	\N	\N	EFO	7	EFO	somatic cell	regulatory T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000815	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	6146897	\N	\N	EFO	8	EFO	experimental factor	regulatory T cell
CL:0000816	\N	\N	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	63072	\N	\N	EFO	0	EFO	immature B cell	immature B cell
CL:0000236	CL:0000816	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	202720	\N	\N	EFO	1	EFO	B cell	immature B cell
CL:0000817	CL:0000816	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	202721	\N	\N	EFO	1	EFO	precursor B cell	immature B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	555644	\N	\N	EFO	2	EFO	lymphocyte of B lineage	immature B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	555645	\N	\N	EFO	2	EFO	B cell	immature B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	1138306	\N	\N	EFO	3	EFO	lymphocyte	immature B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	1138307	\N	\N	EFO	3	EFO	lymphocyte of B lineage	immature B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	2021376	\N	\N	EFO	4	EFO	nongranular leukocyte	immature B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	2021377	\N	\N	EFO	4	EFO	lymphocyte	immature B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	3176012	\N	\N	EFO	5	EFO	leukocyte	immature B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	3176013	\N	\N	EFO	5	EFO	leukocyte	immature B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	4386741	\N	\N	EFO	6	EFO	hematopoietic cell	immature B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	4386742	\N	\N	EFO	6	EFO	hematopoietic cell	immature B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	5407882	\N	\N	EFO	7	EFO	somatic cell	immature B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	5407883	\N	\N	EFO	7	EFO	cell type	immature B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	6146898	\N	\N	EFO	8	EFO	material entity	immature B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000816	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	6631504	\N	\N	EFO	9	EFO	experimental factor	immature B cell
CL:0000817	\N	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	63073	\N	\N	EFO	0	EFO	precursor B cell	precursor B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	202722	\N	\N	EFO	1	EFO	B cell	precursor B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	202723	\N	\N	EFO	1	EFO	B cell	precursor B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	555646	\N	\N	EFO	2	EFO	lymphocyte of B lineage	precursor B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	555647	\N	\N	EFO	2	EFO	lymphocyte of B lineage	precursor B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	1138308	\N	\N	EFO	3	EFO	lymphocyte	precursor B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	1138309	\N	\N	EFO	3	EFO	lymphocyte	precursor B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	2021378	\N	\N	EFO	4	EFO	leukocyte	precursor B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	2021379	\N	\N	EFO	4	EFO	nongranular leukocyte	precursor B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	3176014	\N	\N	EFO	5	EFO	hematopoietic cell	precursor B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	3176015	\N	\N	EFO	5	EFO	leukocyte	precursor B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	4386743	\N	\N	EFO	6	EFO	cell type	precursor B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	4386744	\N	\N	EFO	6	EFO	hematopoietic cell	precursor B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	5407884	\N	\N	EFO	7	EFO	material entity	precursor B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	5407885	\N	\N	EFO	7	EFO	somatic cell	precursor B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000817	"A precursor B cell is a B cell with the phenotype CD10-positive." []	6146899	\N	\N	EFO	8	EFO	experimental factor	precursor B cell
CL:0000818	\N	\N	"" []	CL:0000818	"" []	63074	\N	\N	EFO	0	EFO	transitional stage B cell	transitional stage B cell
CL:0000236	CL:0000818	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000818	"" []	202724	\N	\N	EFO	1	EFO	B cell	transitional stage B cell
CL:0000236	CL:0000818	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000818	"" []	202725	\N	\N	EFO	1	EFO	B cell	transitional stage B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000818	"" []	555648	\N	\N	EFO	2	EFO	lymphocyte of B lineage	transitional stage B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000818	"" []	555649	\N	\N	EFO	2	EFO	lymphocyte of B lineage	transitional stage B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000818	"" []	1138310	\N	\N	EFO	3	EFO	lymphocyte	transitional stage B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000818	"" []	1138311	\N	\N	EFO	3	EFO	lymphocyte	transitional stage B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000818	"" []	2021380	\N	\N	EFO	4	EFO	leukocyte	transitional stage B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000818	"" []	2021381	\N	\N	EFO	4	EFO	nongranular leukocyte	transitional stage B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000818	"" []	3176016	\N	\N	EFO	5	EFO	hematopoietic cell	transitional stage B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000818	"" []	3176017	\N	\N	EFO	5	EFO	leukocyte	transitional stage B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000818	"" []	4386745	\N	\N	EFO	6	EFO	cell type	transitional stage B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000818	"" []	4386746	\N	\N	EFO	6	EFO	hematopoietic cell	transitional stage B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000818	"" []	5407886	\N	\N	EFO	7	EFO	material entity	transitional stage B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000818	"" []	5407887	\N	\N	EFO	7	EFO	somatic cell	transitional stage B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000818	"" []	6146900	\N	\N	EFO	8	EFO	experimental factor	transitional stage B cell
CL:0000819	\N	\N	"" []	CL:0000819	"" []	63075	\N	\N	EFO	0	EFO	B-1 B cell	B-1 B cell
CL:0000785	CL:0000819	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000819	"" []	202726	\N	\N	EFO	1	EFO	mature B cell	B-1 B cell
CL:0000785	CL:0000819	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000819	"" []	202727	\N	\N	EFO	1	EFO	mature B cell	B-1 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000819	"" []	555650	\N	\N	EFO	2	EFO	B cell	B-1 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000819	"" []	555651	\N	\N	EFO	2	EFO	B cell	B-1 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000819	"" []	1138312	\N	\N	EFO	3	EFO	lymphocyte of B lineage	B-1 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000819	"" []	1138313	\N	\N	EFO	3	EFO	lymphocyte of B lineage	B-1 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000819	"" []	2021382	\N	\N	EFO	4	EFO	lymphocyte	B-1 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000819	"" []	2021383	\N	\N	EFO	4	EFO	lymphocyte	B-1 B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000819	"" []	3176018	\N	\N	EFO	5	EFO	leukocyte	B-1 B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000819	"" []	3176019	\N	\N	EFO	5	EFO	nongranular leukocyte	B-1 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000819	"" []	4386747	\N	\N	EFO	6	EFO	hematopoietic cell	B-1 B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000819	"" []	4386748	\N	\N	EFO	6	EFO	leukocyte	B-1 B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000819	"" []	5407888	\N	\N	EFO	7	EFO	cell type	B-1 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000819	"" []	5407889	\N	\N	EFO	7	EFO	hematopoietic cell	B-1 B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000819	"" []	6146901	\N	\N	EFO	8	EFO	material entity	B-1 B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000819	"" []	6146902	\N	\N	EFO	8	EFO	somatic cell	B-1 B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000819	"" []	6631505	\N	\N	EFO	9	EFO	experimental factor	B-1 B cell
CL:0000820	\N	\N	"" []	CL:0000820	"" []	63076	\N	\N	EFO	0	EFO	B-1a B cell	B-1a B cell
CL:0000819	CL:0000820	\N	"" []	CL:0000820	"" []	202728	\N	\N	EFO	1	EFO	B-1 B cell	B-1a B cell
CL:0000819	CL:0000820	\N	"" []	CL:0000820	"" []	202729	\N	\N	EFO	1	EFO	B-1 B cell	B-1a B cell
CL:0000785	CL:0000819	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000820	"" []	555652	\N	\N	EFO	2	EFO	mature B cell	B-1a B cell
CL:0000785	CL:0000819	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000820	"" []	555653	\N	\N	EFO	2	EFO	mature B cell	B-1a B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000820	"" []	1138314	\N	\N	EFO	3	EFO	B cell	B-1a B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000820	"" []	1138315	\N	\N	EFO	3	EFO	B cell	B-1a B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000820	"" []	2021384	\N	\N	EFO	4	EFO	lymphocyte of B lineage	B-1a B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000820	"" []	2021385	\N	\N	EFO	4	EFO	lymphocyte of B lineage	B-1a B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000820	"" []	3176020	\N	\N	EFO	5	EFO	lymphocyte	B-1a B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000820	"" []	3176021	\N	\N	EFO	5	EFO	lymphocyte	B-1a B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000820	"" []	4386749	\N	\N	EFO	6	EFO	leukocyte	B-1a B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000820	"" []	4386750	\N	\N	EFO	6	EFO	nongranular leukocyte	B-1a B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000820	"" []	5407890	\N	\N	EFO	7	EFO	hematopoietic cell	B-1a B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000820	"" []	5407891	\N	\N	EFO	7	EFO	leukocyte	B-1a B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000820	"" []	6146903	\N	\N	EFO	8	EFO	cell type	B-1a B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000820	"" []	6146904	\N	\N	EFO	8	EFO	hematopoietic cell	B-1a B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000820	"" []	6631506	\N	\N	EFO	9	EFO	material entity	B-1a B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000820	"" []	6631507	\N	\N	EFO	9	EFO	somatic cell	B-1a B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000820	"" []	6925132	\N	\N	EFO	10	EFO	experimental factor	B-1a B cell
CL:0000821	\N	\N	"" []	CL:0000821	"" []	63077	\N	\N	EFO	0	EFO	B-1b B cell	B-1b B cell
CL:0000819	CL:0000821	\N	"" []	CL:0000821	"" []	202730	\N	\N	EFO	1	EFO	B-1 B cell	B-1b B cell
CL:0000819	CL:0000821	\N	"" []	CL:0000821	"" []	202731	\N	\N	EFO	1	EFO	B-1 B cell	B-1b B cell
CL:0000785	CL:0000819	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000821	"" []	555654	\N	\N	EFO	2	EFO	mature B cell	B-1b B cell
CL:0000785	CL:0000819	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000821	"" []	555655	\N	\N	EFO	2	EFO	mature B cell	B-1b B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000821	"" []	1138316	\N	\N	EFO	3	EFO	B cell	B-1b B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000821	"" []	1138317	\N	\N	EFO	3	EFO	B cell	B-1b B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000821	"" []	2021386	\N	\N	EFO	4	EFO	lymphocyte of B lineage	B-1b B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000821	"" []	2021387	\N	\N	EFO	4	EFO	lymphocyte of B lineage	B-1b B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000821	"" []	3176022	\N	\N	EFO	5	EFO	lymphocyte	B-1b B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000821	"" []	3176023	\N	\N	EFO	5	EFO	lymphocyte	B-1b B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000821	"" []	4386751	\N	\N	EFO	6	EFO	leukocyte	B-1b B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000821	"" []	4386752	\N	\N	EFO	6	EFO	nongranular leukocyte	B-1b B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000821	"" []	5407892	\N	\N	EFO	7	EFO	hematopoietic cell	B-1b B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000821	"" []	5407893	\N	\N	EFO	7	EFO	leukocyte	B-1b B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000821	"" []	6146905	\N	\N	EFO	8	EFO	cell type	B-1b B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000821	"" []	6146906	\N	\N	EFO	8	EFO	hematopoietic cell	B-1b B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000821	"" []	6631508	\N	\N	EFO	9	EFO	material entity	B-1b B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000821	"" []	6631509	\N	\N	EFO	9	EFO	somatic cell	B-1b B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000821	"" []	6925133	\N	\N	EFO	10	EFO	experimental factor	B-1b B cell
CL:0000822	\N	\N	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	63078	\N	\N	EFO	0	EFO	B-2 B cell	B-2 B cell
CL:0000785	CL:0000822	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	202732	\N	\N	EFO	1	EFO	mature B cell	B-2 B cell
CL:0000785	CL:0000822	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	202733	\N	\N	EFO	1	EFO	mature B cell	B-2 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	555656	\N	\N	EFO	2	EFO	B cell	B-2 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	555657	\N	\N	EFO	2	EFO	B cell	B-2 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	1138318	\N	\N	EFO	3	EFO	lymphocyte of B lineage	B-2 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	1138319	\N	\N	EFO	3	EFO	lymphocyte of B lineage	B-2 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	2021388	\N	\N	EFO	4	EFO	lymphocyte	B-2 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	2021389	\N	\N	EFO	4	EFO	lymphocyte	B-2 B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	3176024	\N	\N	EFO	5	EFO	leukocyte	B-2 B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	3176025	\N	\N	EFO	5	EFO	nongranular leukocyte	B-2 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	4386753	\N	\N	EFO	6	EFO	hematopoietic cell	B-2 B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	4386754	\N	\N	EFO	6	EFO	leukocyte	B-2 B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	5407894	\N	\N	EFO	7	EFO	cell type	B-2 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	5407895	\N	\N	EFO	7	EFO	hematopoietic cell	B-2 B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	6146907	\N	\N	EFO	8	EFO	material entity	B-2 B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	6146908	\N	\N	EFO	8	EFO	somatic cell	B-2 B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000822	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	6631510	\N	\N	EFO	9	EFO	experimental factor	B-2 B cell
CL:0000823	\N	\N	"" []	CL:0000823	"" []	63079	\N	\N	EFO	0	EFO	immature natural killer cell	immature natural killer cell
CL:0000623	CL:0000823	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0000823	"" []	202734	\N	\N	EFO	1	EFO	natural killer cell	immature natural killer cell
CL:0000623	CL:0000823	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0000823	"" []	202735	\N	\N	EFO	1	EFO	natural killer cell	immature natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000823	"" []	555658	\N	\N	EFO	2	EFO	lymphocyte	immature natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000823	"" []	1138320	\N	\N	EFO	3	EFO	leukocyte	immature natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000823	"" []	2021390	\N	\N	EFO	4	EFO	hematopoietic cell	immature natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000823	"" []	3176026	\N	\N	EFO	5	EFO	cell type	immature natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000823	"" []	4386755	\N	\N	EFO	6	EFO	material entity	immature natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000823	"" []	5407896	\N	\N	EFO	7	EFO	experimental factor	immature natural killer cell
CL:0000824	\N	\N	"" []	CL:0000824	"" []	63080	\N	\N	EFO	0	EFO	mature natural killer cell	mature natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0000824	"" []	202736	\N	\N	EFO	1	EFO	natural killer cell	mature natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0000824	"" []	202737	\N	\N	EFO	1	EFO	natural killer cell	mature natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000824	"" []	555659	\N	\N	EFO	2	EFO	lymphocyte	mature natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000824	"" []	1138321	\N	\N	EFO	3	EFO	leukocyte	mature natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000824	"" []	2021391	\N	\N	EFO	4	EFO	hematopoietic cell	mature natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000824	"" []	3176027	\N	\N	EFO	5	EFO	cell type	mature natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000824	"" []	4386756	\N	\N	EFO	6	EFO	material entity	mature natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000824	"" []	5407897	\N	\N	EFO	7	EFO	experimental factor	mature natural killer cell
CL:0000825	\N	\N	"" []	CL:0000825	"" []	63081	\N	\N	EFO	0	EFO	pro-NK cell	pro-NK cell
CL:0000838	CL:0000825	\N	"" []	CL:0000825	"" []	202738	\N	\N	EFO	1	EFO	lymphoid lineage restricted progenitor cell	pro-NK cell
CL:0000838	CL:0000825	\N	"" []	CL:0000825	"" []	202739	\N	\N	EFO	1	EFO	lymphoid lineage restricted progenitor cell	pro-NK cell
CL:0002031	CL:0000838	\N	"" []	CL:0000825	"" []	555660	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	pro-NK cell
CL:0002031	CL:0000838	\N	"" []	CL:0000825	"" []	555661	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	pro-NK cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000825	"" []	1138322	\N	\N	EFO	3	EFO	hematopoietic cell	pro-NK cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000825	"" []	2021392	\N	\N	EFO	4	EFO	cell type	pro-NK cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000825	"" []	3176028	\N	\N	EFO	5	EFO	material entity	pro-NK cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000825	"" []	4386757	\N	\N	EFO	6	EFO	experimental factor	pro-NK cell
CL:0000826	\N	\N	"" []	CL:0000826	"" []	63082	\N	\N	EFO	0	EFO	pro-B cell	pro-B cell
CL:0000838	CL:0000826	\N	"" []	CL:0000826	"" []	202740	\N	\N	EFO	1	EFO	lymphoid lineage restricted progenitor cell	pro-B cell
CL:0000838	CL:0000826	\N	"" []	CL:0000826	"" []	202741	\N	\N	EFO	1	EFO	lymphoid lineage restricted progenitor cell	pro-B cell
CL:0002031	CL:0000838	\N	"" []	CL:0000826	"" []	555662	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	pro-B cell
CL:0002031	CL:0000838	\N	"" []	CL:0000826	"" []	555663	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	pro-B cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000826	"" []	1138323	\N	\N	EFO	3	EFO	hematopoietic cell	pro-B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000826	"" []	2021393	\N	\N	EFO	4	EFO	cell type	pro-B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000826	"" []	3176029	\N	\N	EFO	5	EFO	material entity	pro-B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000826	"" []	4386758	\N	\N	EFO	6	EFO	experimental factor	pro-B cell
CL:0000827	\N	\N	"" []	CL:0000827	"" []	63083	\N	\N	EFO	0	EFO	pro-T cell	pro-T cell
CL:0000838	CL:0000827	\N	"" []	CL:0000827	"" []	202742	\N	\N	EFO	1	EFO	lymphoid lineage restricted progenitor cell	pro-T cell
CL:0000838	CL:0000827	\N	"" []	CL:0000827	"" []	202743	\N	\N	EFO	1	EFO	lymphoid lineage restricted progenitor cell	pro-T cell
CL:0002031	CL:0000838	\N	"" []	CL:0000827	"" []	555664	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	pro-T cell
CL:0002031	CL:0000838	\N	"" []	CL:0000827	"" []	555665	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	pro-T cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000827	"" []	1138324	\N	\N	EFO	3	EFO	hematopoietic cell	pro-T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000827	"" []	2021394	\N	\N	EFO	4	EFO	cell type	pro-T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000827	"" []	3176030	\N	\N	EFO	5	EFO	material entity	pro-T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000827	"" []	4386759	\N	\N	EFO	6	EFO	experimental factor	pro-T cell
CL:0000828	\N	\N	"" []	CL:0000828	"" []	63084	\N	\N	EFO	0	EFO	thromboblast	thromboblast
CL:0000226	\N	\N	"A cell with a single nucleus." [FB:ma, GOC:tfm]	CL:0000828	"" []	194204	\N	\N	EFO	0	EFO	single nucleate cell	thromboblast
CL:0000763	CL:0000828	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000828	"" []	202744	\N	\N	EFO	1	EFO	myeloid cell	thromboblast
CL:0000839	CL:0000828	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000828	"" []	202745	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	thromboblast
CL:0000839	CL:0000828	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000828	"" []	202746	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	thromboblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000828	"" []	555666	\N	\N	EFO	2	EFO	hematopoietic cell	thromboblast
CL:0002031	CL:0000839	\N	"" []	CL:0000828	"" []	555667	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	thromboblast
CL:0002031	CL:0000839	\N	"" []	CL:0000828	"" []	555668	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	thromboblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000828	"" []	1138325	\N	\N	EFO	3	EFO	somatic cell	thromboblast
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000828	"" []	1138326	\N	\N	EFO	3	EFO	hematopoietic cell	thromboblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000828	"" []	2021395	\N	\N	EFO	4	EFO	cell type	thromboblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000828	"" []	3176031	\N	\N	EFO	5	EFO	material entity	thromboblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000828	"" []	4386760	\N	\N	EFO	6	EFO	experimental factor	thromboblast
CL:0000829	\N	\N	"" []	CL:0000829	"" []	63085	\N	\N	EFO	0	EFO	basophilic myeloblast	basophilic myeloblast
CL:0000835	CL:0000829	\N	"" []	CL:0000829	"" []	202747	\N	\N	EFO	1	EFO	myeloblast	basophilic myeloblast
CL:0000835	CL:0000829	\N	"" []	CL:0000829	"" []	202748	\N	\N	EFO	1	EFO	myeloblast	basophilic myeloblast
CL:0002191	CL:0000835	\N	"" []	CL:0000829	"" []	555669	\N	\N	EFO	2	EFO	granulocytopoietic cell	basophilic myeloblast
CL:0000763	CL:0000835	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000829	"" []	555670	\N	\N	EFO	2	EFO	myeloid cell	basophilic myeloblast
CL:0002191	CL:0000835	\N	"" []	CL:0000829	"" []	555671	\N	\N	EFO	2	EFO	granulocytopoietic cell	basophilic myeloblast
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000829	"" []	1138327	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	basophilic myeloblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000829	"" []	1138328	\N	\N	EFO	3	EFO	hematopoietic cell	basophilic myeloblast
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000829	"" []	1138329	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	basophilic myeloblast
CL:0002031	CL:0000839	\N	"" []	CL:0000829	"" []	2021396	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	basophilic myeloblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000829	"" []	2021397	\N	\N	EFO	4	EFO	somatic cell	basophilic myeloblast
CL:0002031	CL:0000839	\N	"" []	CL:0000829	"" []	2021398	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	basophilic myeloblast
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000829	"" []	3176032	\N	\N	EFO	5	EFO	hematopoietic cell	basophilic myeloblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000829	"" []	4386761	\N	\N	EFO	6	EFO	cell type	basophilic myeloblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000829	"" []	5407898	\N	\N	EFO	7	EFO	material entity	basophilic myeloblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000829	"" []	6146909	\N	\N	EFO	8	EFO	experimental factor	basophilic myeloblast
CL:0000830	\N	\N	"" []	CL:0000830	"" []	63086	\N	\N	EFO	0	EFO	basophilic promyelocyte	basophilic promyelocyte
CL:0000836	CL:0000830	\N	"" []	CL:0000830	"" []	202749	\N	\N	EFO	1	EFO	promyelocyte	basophilic promyelocyte
CL:0000836	CL:0000830	\N	"" []	CL:0000830	"" []	202750	\N	\N	EFO	1	EFO	promyelocyte	basophilic promyelocyte
CL:0002191	CL:0000836	\N	"" []	CL:0000830	"" []	555672	\N	\N	EFO	2	EFO	granulocytopoietic cell	basophilic promyelocyte
CL:0000763	CL:0000836	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000830	"" []	555673	\N	\N	EFO	2	EFO	myeloid cell	basophilic promyelocyte
CL:0002191	CL:0000836	\N	"" []	CL:0000830	"" []	555674	\N	\N	EFO	2	EFO	granulocytopoietic cell	basophilic promyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000830	"" []	1138330	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	basophilic promyelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000830	"" []	1138331	\N	\N	EFO	3	EFO	hematopoietic cell	basophilic promyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000830	"" []	1138332	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	basophilic promyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000830	"" []	2021399	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	basophilic promyelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000830	"" []	2021400	\N	\N	EFO	4	EFO	somatic cell	basophilic promyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000830	"" []	2021401	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	basophilic promyelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000830	"" []	3176033	\N	\N	EFO	5	EFO	hematopoietic cell	basophilic promyelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000830	"" []	4386762	\N	\N	EFO	6	EFO	cell type	basophilic promyelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000830	"" []	5407899	\N	\N	EFO	7	EFO	material entity	basophilic promyelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000830	"" []	6146910	\N	\N	EFO	8	EFO	experimental factor	basophilic promyelocyte
CL:0000831	\N	\N	"" []	CL:0000831	"" []	63087	\N	\N	EFO	0	EFO	mast cell progenitor	mast cell progenitor
CL:0000763	CL:0000831	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000831	"" []	202751	\N	\N	EFO	1	EFO	myeloid cell	mast cell progenitor
CL:0000839	CL:0000831	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000831	"" []	202752	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	mast cell progenitor
CL:0000839	CL:0000831	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000831	"" []	202753	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	mast cell progenitor
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000831	"" []	555675	\N	\N	EFO	2	EFO	hematopoietic cell	mast cell progenitor
CL:0002031	CL:0000839	\N	"" []	CL:0000831	"" []	555676	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	mast cell progenitor
CL:0002031	CL:0000839	\N	"" []	CL:0000831	"" []	555677	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	mast cell progenitor
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000831	"" []	1138333	\N	\N	EFO	3	EFO	somatic cell	mast cell progenitor
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000831	"" []	1138334	\N	\N	EFO	3	EFO	hematopoietic cell	mast cell progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000831	"" []	2021402	\N	\N	EFO	4	EFO	cell type	mast cell progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000831	"" []	3176034	\N	\N	EFO	5	EFO	material entity	mast cell progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000831	"" []	4386763	\N	\N	EFO	6	EFO	experimental factor	mast cell progenitor
CL:0000832	\N	\N	"" []	CL:0000832	"" []	63088	\N	\N	EFO	0	EFO	eosinophilic myeloblast	eosinophilic myeloblast
CL:0000835	CL:0000832	\N	"" []	CL:0000832	"" []	202754	\N	\N	EFO	1	EFO	myeloblast	eosinophilic myeloblast
CL:0000835	CL:0000832	\N	"" []	CL:0000832	"" []	202755	\N	\N	EFO	1	EFO	myeloblast	eosinophilic myeloblast
CL:0002191	CL:0000835	\N	"" []	CL:0000832	"" []	555678	\N	\N	EFO	2	EFO	granulocytopoietic cell	eosinophilic myeloblast
CL:0000763	CL:0000835	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000832	"" []	555679	\N	\N	EFO	2	EFO	myeloid cell	eosinophilic myeloblast
CL:0002191	CL:0000835	\N	"" []	CL:0000832	"" []	555680	\N	\N	EFO	2	EFO	granulocytopoietic cell	eosinophilic myeloblast
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000832	"" []	1138335	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	eosinophilic myeloblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000832	"" []	1138336	\N	\N	EFO	3	EFO	hematopoietic cell	eosinophilic myeloblast
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000832	"" []	1138337	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	eosinophilic myeloblast
CL:0002031	CL:0000839	\N	"" []	CL:0000832	"" []	2021403	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	eosinophilic myeloblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000832	"" []	2021404	\N	\N	EFO	4	EFO	somatic cell	eosinophilic myeloblast
CL:0002031	CL:0000839	\N	"" []	CL:0000832	"" []	2021405	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	eosinophilic myeloblast
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000832	"" []	3176035	\N	\N	EFO	5	EFO	hematopoietic cell	eosinophilic myeloblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000832	"" []	4386764	\N	\N	EFO	6	EFO	cell type	eosinophilic myeloblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000832	"" []	5407900	\N	\N	EFO	7	EFO	material entity	eosinophilic myeloblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000832	"" []	6146911	\N	\N	EFO	8	EFO	experimental factor	eosinophilic myeloblast
CL:0000833	\N	\N	"" []	CL:0000833	"" []	63089	\N	\N	EFO	0	EFO	eosinophilic promyelocyte	eosinophilic promyelocyte
CL:0000836	CL:0000833	\N	"" []	CL:0000833	"" []	202756	\N	\N	EFO	1	EFO	promyelocyte	eosinophilic promyelocyte
CL:0000836	CL:0000833	\N	"" []	CL:0000833	"" []	202757	\N	\N	EFO	1	EFO	promyelocyte	eosinophilic promyelocyte
CL:0002191	CL:0000836	\N	"" []	CL:0000833	"" []	555681	\N	\N	EFO	2	EFO	granulocytopoietic cell	eosinophilic promyelocyte
CL:0000763	CL:0000836	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000833	"" []	555682	\N	\N	EFO	2	EFO	myeloid cell	eosinophilic promyelocyte
CL:0002191	CL:0000836	\N	"" []	CL:0000833	"" []	555683	\N	\N	EFO	2	EFO	granulocytopoietic cell	eosinophilic promyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000833	"" []	1138338	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	eosinophilic promyelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000833	"" []	1138339	\N	\N	EFO	3	EFO	hematopoietic cell	eosinophilic promyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000833	"" []	1138340	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	eosinophilic promyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000833	"" []	2021406	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	eosinophilic promyelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000833	"" []	2021407	\N	\N	EFO	4	EFO	somatic cell	eosinophilic promyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000833	"" []	2021408	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	eosinophilic promyelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000833	"" []	3176036	\N	\N	EFO	5	EFO	hematopoietic cell	eosinophilic promyelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000833	"" []	4386765	\N	\N	EFO	6	EFO	cell type	eosinophilic promyelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000833	"" []	5407901	\N	\N	EFO	7	EFO	material entity	eosinophilic promyelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000833	"" []	6146912	\N	\N	EFO	8	EFO	experimental factor	eosinophilic promyelocyte
CL:0000834	\N	\N	"" []	CL:0000834	"" []	63090	\N	\N	EFO	0	EFO	neutrophil progenitor cell	neutrophil progenitor cell
CL:0000763	CL:0000834	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000834	"" []	202758	\N	\N	EFO	1	EFO	myeloid cell	neutrophil progenitor cell
CL:0002191	CL:0000834	\N	"" []	CL:0000834	"" []	202759	\N	\N	EFO	1	EFO	granulocytopoietic cell	neutrophil progenitor cell
CL:0002191	CL:0000834	\N	"" []	CL:0000834	"" []	202760	\N	\N	EFO	1	EFO	granulocytopoietic cell	neutrophil progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000834	"" []	555684	\N	\N	EFO	2	EFO	hematopoietic cell	neutrophil progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000834	"" []	555685	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	neutrophil progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000834	"" []	555686	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	neutrophil progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000834	"" []	1138341	\N	\N	EFO	3	EFO	somatic cell	neutrophil progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0000834	"" []	1138342	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	neutrophil progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0000834	"" []	1138343	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	neutrophil progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000834	"" []	2021409	\N	\N	EFO	4	EFO	hematopoietic cell	neutrophil progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000834	"" []	3176037	\N	\N	EFO	5	EFO	cell type	neutrophil progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000834	"" []	4386766	\N	\N	EFO	6	EFO	material entity	neutrophil progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000834	"" []	5407902	\N	\N	EFO	7	EFO	experimental factor	neutrophil progenitor cell
CL:0000835	\N	\N	"" []	CL:0000835	"" []	63091	\N	\N	EFO	0	EFO	myeloblast	myeloblast
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0000835	"" []	194205	\N	\N	EFO	0	EFO	nucleate cell	myeloblast
CL:0000763	CL:0000835	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000835	"" []	202761	\N	\N	EFO	1	EFO	myeloid cell	myeloblast
CL:0002191	CL:0000835	\N	"" []	CL:0000835	"" []	202762	\N	\N	EFO	1	EFO	granulocytopoietic cell	myeloblast
CL:0002191	CL:0000835	\N	"" []	CL:0000835	"" []	202763	\N	\N	EFO	1	EFO	granulocytopoietic cell	myeloblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000835	"" []	555687	\N	\N	EFO	2	EFO	hematopoietic cell	myeloblast
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000835	"" []	555688	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	myeloblast
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000835	"" []	555689	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	myeloblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000835	"" []	1138344	\N	\N	EFO	3	EFO	somatic cell	myeloblast
CL:0002031	CL:0000839	\N	"" []	CL:0000835	"" []	1138345	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	myeloblast
CL:0002031	CL:0000839	\N	"" []	CL:0000835	"" []	1138346	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	myeloblast
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000835	"" []	2021410	\N	\N	EFO	4	EFO	hematopoietic cell	myeloblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000835	"" []	3176038	\N	\N	EFO	5	EFO	cell type	myeloblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000835	"" []	4386767	\N	\N	EFO	6	EFO	material entity	myeloblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000835	"" []	5407903	\N	\N	EFO	7	EFO	experimental factor	myeloblast
CL:0000836	\N	\N	"" []	CL:0000836	"" []	63092	\N	\N	EFO	0	EFO	promyelocyte	promyelocyte
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0000836	"" []	194206	\N	\N	EFO	0	EFO	nucleate cell	promyelocyte
CL:0000763	CL:0000836	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000836	"" []	202764	\N	\N	EFO	1	EFO	myeloid cell	promyelocyte
CL:0002191	CL:0000836	\N	"" []	CL:0000836	"" []	202765	\N	\N	EFO	1	EFO	granulocytopoietic cell	promyelocyte
CL:0002191	CL:0000836	\N	"" []	CL:0000836	"" []	202766	\N	\N	EFO	1	EFO	granulocytopoietic cell	promyelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000836	"" []	555690	\N	\N	EFO	2	EFO	hematopoietic cell	promyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000836	"" []	555691	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	promyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000836	"" []	555692	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	promyelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000836	"" []	1138347	\N	\N	EFO	3	EFO	somatic cell	promyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000836	"" []	1138348	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	promyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0000836	"" []	1138349	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	promyelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000836	"" []	2021411	\N	\N	EFO	4	EFO	hematopoietic cell	promyelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000836	"" []	3176039	\N	\N	EFO	5	EFO	cell type	promyelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000836	"" []	4386768	\N	\N	EFO	6	EFO	material entity	promyelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000836	"" []	5407904	\N	\N	EFO	7	EFO	experimental factor	promyelocyte
CL:0000837	\N	\N	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	CL:0000837	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	63093	\N	\N	EFO	0	EFO	hematopoietic multipotent progenitor cell	hematopoietic multipotent progenitor cell
CL:0008001	\N	\N	"Any hematopoietic cell that is a precursor of some other hematopoietic cell type." [GOC:dos]	CL:0000837	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	194207	\N	\N	EFO	0	EFO	hematopoietic precursor cell	hematopoietic multipotent progenitor cell
CL:0000988	CL:0000837	\N	"A cell of a hematopoietic lineage." []	CL:0000837	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	202767	\N	\N	EFO	1	EFO	hematopoietic cell	hematopoietic multipotent progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000837	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	555693	\N	\N	EFO	2	EFO	cell type	hematopoietic multipotent progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000837	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	1138350	\N	\N	EFO	3	EFO	material entity	hematopoietic multipotent progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000837	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	2021412	\N	\N	EFO	4	EFO	experimental factor	hematopoietic multipotent progenitor cell
CL:0000838	\N	\N	"" []	CL:0000838	"" []	63094	\N	\N	EFO	0	EFO	lymphoid lineage restricted progenitor cell	lymphoid lineage restricted progenitor cell
CL:0011115	\N	\N	"A cell that, by division or terminal differentiation, can give rise to other cell types." [GOC:dos]	CL:0000838	"" []	194208	\N	\N	EFO	0	EFO	precursor cell	lymphoid lineage restricted progenitor cell
CL:0002031	CL:0000838	\N	"" []	CL:0000838	"" []	202768	\N	\N	EFO	1	EFO	hematopoietic lineage restricted progenitor cell	lymphoid lineage restricted progenitor cell
CL:0002031	CL:0000838	\N	"" []	CL:0000838	"" []	202769	\N	\N	EFO	1	EFO	hematopoietic lineage restricted progenitor cell	lymphoid lineage restricted progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000838	"" []	555694	\N	\N	EFO	2	EFO	hematopoietic cell	lymphoid lineage restricted progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000838	"" []	1138351	\N	\N	EFO	3	EFO	cell type	lymphoid lineage restricted progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000838	"" []	2021413	\N	\N	EFO	4	EFO	material entity	lymphoid lineage restricted progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000838	"" []	3176040	\N	\N	EFO	5	EFO	experimental factor	lymphoid lineage restricted progenitor cell
CL:0000839	\N	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0000839	"A progenitor cell restricted to the myeloid lineage." []	63095	\N	\N	EFO	0	EFO	myeloid lineage restricted progenitor cell	myeloid lineage restricted progenitor cell
CL:0011115	\N	\N	"A cell that, by division or terminal differentiation, can give rise to other cell types." [GOC:dos]	CL:0000839	"A progenitor cell restricted to the myeloid lineage." []	194209	\N	\N	EFO	0	EFO	precursor cell	myeloid lineage restricted progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0000839	"A progenitor cell restricted to the myeloid lineage." []	202770	\N	\N	EFO	1	EFO	hematopoietic lineage restricted progenitor cell	myeloid lineage restricted progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0000839	"A progenitor cell restricted to the myeloid lineage." []	202771	\N	\N	EFO	1	EFO	hematopoietic lineage restricted progenitor cell	myeloid lineage restricted progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000839	"A progenitor cell restricted to the myeloid lineage." []	555695	\N	\N	EFO	2	EFO	hematopoietic cell	myeloid lineage restricted progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000839	"A progenitor cell restricted to the myeloid lineage." []	1138352	\N	\N	EFO	3	EFO	cell type	myeloid lineage restricted progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000839	"A progenitor cell restricted to the myeloid lineage." []	2021414	\N	\N	EFO	4	EFO	material entity	myeloid lineage restricted progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000839	"A progenitor cell restricted to the myeloid lineage." []	3176041	\N	\N	EFO	5	EFO	experimental factor	myeloid lineage restricted progenitor cell
CL:0000840	\N	\N	"" []	CL:0000840	"" []	63096	\N	\N	EFO	0	EFO	immature conventional dendritic cell	immature conventional dendritic cell
CL:0000766	CL:0000840	\N	"" []	CL:0000840	"" []	202772	\N	\N	EFO	1	EFO	myeloid leukocyte	immature conventional dendritic cell
CL:0000990	CL:0000840	\N	"" []	CL:0000840	"" []	202773	\N	\N	EFO	1	EFO	conventional dendritic cell	immature conventional dendritic cell
CL:0000990	CL:0000840	\N	"" []	CL:0000840	"" []	202774	\N	\N	EFO	1	EFO	conventional dendritic cell	immature conventional dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000840	"" []	555696	\N	\N	EFO	2	EFO	leukocyte	immature conventional dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000840	"" []	555697	\N	\N	EFO	2	EFO	myeloid cell	immature conventional dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000840	"" []	555698	\N	\N	EFO	2	EFO	dendritic cell	immature conventional dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000840	"" []	555699	\N	\N	EFO	2	EFO	dendritic cell	immature conventional dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000840	"" []	2021417	\N	\N	EFO	4	EFO	hematopoietic cell	immature conventional dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000840	"" []	1138354	\N	\N	EFO	3	EFO	hematopoietic cell	immature conventional dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000840	"" []	1138355	\N	\N	EFO	3	EFO	leukocyte	immature conventional dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000840	"" []	1138356	\N	\N	EFO	3	EFO	leukocyte	immature conventional dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000840	"" []	2999176	\N	\N	EFO	5	EFO	somatic cell	immature conventional dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000840	"" []	2021416	\N	\N	EFO	4	EFO	hematopoietic cell	immature conventional dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000840	"" []	3176042	\N	\N	EFO	5	EFO	cell type	immature conventional dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000840	"" []	4386769	\N	\N	EFO	6	EFO	material entity	immature conventional dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000840	"" []	5407905	\N	\N	EFO	7	EFO	experimental factor	immature conventional dendritic cell
CL:0000841	\N	\N	"" []	CL:0000841	"" []	63097	\N	\N	EFO	0	EFO	mature conventional dendritic cell	mature conventional dendritic cell
CL:0000766	CL:0000841	\N	"" []	CL:0000841	"" []	202775	\N	\N	EFO	1	EFO	myeloid leukocyte	mature conventional dendritic cell
CL:0000990	CL:0000841	\N	"" []	CL:0000841	"" []	202776	\N	\N	EFO	1	EFO	conventional dendritic cell	mature conventional dendritic cell
CL:0000990	CL:0000841	\N	"" []	CL:0000841	"" []	202777	\N	\N	EFO	1	EFO	conventional dendritic cell	mature conventional dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000841	"" []	555700	\N	\N	EFO	2	EFO	leukocyte	mature conventional dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000841	"" []	555701	\N	\N	EFO	2	EFO	myeloid cell	mature conventional dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000841	"" []	555702	\N	\N	EFO	2	EFO	dendritic cell	mature conventional dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000841	"" []	555703	\N	\N	EFO	2	EFO	dendritic cell	mature conventional dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000841	"" []	2021420	\N	\N	EFO	4	EFO	hematopoietic cell	mature conventional dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000841	"" []	1138358	\N	\N	EFO	3	EFO	hematopoietic cell	mature conventional dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000841	"" []	1138359	\N	\N	EFO	3	EFO	leukocyte	mature conventional dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000841	"" []	1138360	\N	\N	EFO	3	EFO	leukocyte	mature conventional dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000841	"" []	2999177	\N	\N	EFO	5	EFO	somatic cell	mature conventional dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000841	"" []	2021419	\N	\N	EFO	4	EFO	hematopoietic cell	mature conventional dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000841	"" []	3176043	\N	\N	EFO	5	EFO	cell type	mature conventional dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000841	"" []	4386770	\N	\N	EFO	6	EFO	material entity	mature conventional dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000841	"" []	5407906	\N	\N	EFO	7	EFO	experimental factor	mature conventional dendritic cell
CL:0000842	\N	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0000842	"A leukocyte with a single non-segmented nucleus in the mature form." []	63098	\N	\N	EFO	0	EFO	mononuclear cell	mononuclear cell
CL:0000226	\N	\N	"A cell with a single nucleus." [FB:ma, GOC:tfm]	CL:0000842	"A leukocyte with a single non-segmented nucleus in the mature form." []	194210	\N	\N	EFO	0	EFO	single nucleate cell	mononuclear cell
CL:0000738	CL:0000842	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000842	"A leukocyte with a single non-segmented nucleus in the mature form." []	202778	\N	\N	EFO	1	EFO	leukocyte	mononuclear cell
CL:0002087	CL:0000842	\N	"" []	CL:0000842	"A leukocyte with a single non-segmented nucleus in the mature form." []	202779	\N	\N	EFO	1	EFO	nongranular leukocyte	mononuclear cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000842	"A leukocyte with a single non-segmented nucleus in the mature form." []	555704	\N	\N	EFO	2	EFO	hematopoietic cell	mononuclear cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000842	"A leukocyte with a single non-segmented nucleus in the mature form." []	555705	\N	\N	EFO	2	EFO	leukocyte	mononuclear cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000842	"A leukocyte with a single non-segmented nucleus in the mature form." []	1138361	\N	\N	EFO	3	EFO	cell type	mononuclear cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000842	"A leukocyte with a single non-segmented nucleus in the mature form." []	1138362	\N	\N	EFO	3	EFO	hematopoietic cell	mononuclear cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000842	"A leukocyte with a single non-segmented nucleus in the mature form." []	2021421	\N	\N	EFO	4	EFO	material entity	mononuclear cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000842	"A leukocyte with a single non-segmented nucleus in the mature form." []	2021422	\N	\N	EFO	4	EFO	somatic cell	mononuclear cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000842	"A leukocyte with a single non-segmented nucleus in the mature form." []	3176044	\N	\N	EFO	5	EFO	experimental factor	mononuclear cell
CL:0000843	\N	\N	"" []	CL:0000843	"" []	63099	\N	\N	EFO	0	EFO	follicular B cell	follicular B cell
CL:0000785	CL:0000843	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000843	"" []	202780	\N	\N	EFO	1	EFO	mature B cell	follicular B cell
CL:0000822	CL:0000843	\N	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	CL:0000843	"" []	202781	\N	\N	EFO	1	EFO	B-2 B cell	follicular B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000843	"" []	555706	\N	\N	EFO	2	EFO	B cell	follicular B cell
CL:0000785	CL:0000822	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000843	"" []	555707	\N	\N	EFO	2	EFO	mature B cell	follicular B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000843	"" []	1138363	\N	\N	EFO	3	EFO	lymphocyte of B lineage	follicular B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000843	"" []	1138364	\N	\N	EFO	3	EFO	B cell	follicular B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000843	"" []	2021423	\N	\N	EFO	4	EFO	lymphocyte	follicular B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000843	"" []	2021424	\N	\N	EFO	4	EFO	lymphocyte of B lineage	follicular B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000843	"" []	3176045	\N	\N	EFO	5	EFO	leukocyte	follicular B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000843	"" []	3176046	\N	\N	EFO	5	EFO	lymphocyte	follicular B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000843	"" []	4386771	\N	\N	EFO	6	EFO	hematopoietic cell	follicular B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000843	"" []	4386772	\N	\N	EFO	6	EFO	nongranular leukocyte	follicular B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000843	"" []	5407907	\N	\N	EFO	7	EFO	cell type	follicular B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000843	"" []	5407908	\N	\N	EFO	7	EFO	leukocyte	follicular B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000843	"" []	6146913	\N	\N	EFO	8	EFO	material entity	follicular B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000843	"" []	6146914	\N	\N	EFO	8	EFO	hematopoietic cell	follicular B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000843	"" []	6631511	\N	\N	EFO	9	EFO	experimental factor	follicular B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000843	"" []	6631512	\N	\N	EFO	9	EFO	somatic cell	follicular B cell
CL:0000844	\N	\N	"" []	CL:0000844	"" []	63100	\N	\N	EFO	0	EFO	germinal center B cell	germinal center B cell
CL:0000785	CL:0000844	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000844	"" []	202782	\N	\N	EFO	1	EFO	mature B cell	germinal center B cell
CL:0000785	CL:0000844	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000844	"" []	202783	\N	\N	EFO	1	EFO	mature B cell	germinal center B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000844	"" []	555708	\N	\N	EFO	2	EFO	B cell	germinal center B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000844	"" []	555709	\N	\N	EFO	2	EFO	B cell	germinal center B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000844	"" []	1138365	\N	\N	EFO	3	EFO	lymphocyte of B lineage	germinal center B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000844	"" []	1138366	\N	\N	EFO	3	EFO	lymphocyte of B lineage	germinal center B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000844	"" []	2021425	\N	\N	EFO	4	EFO	lymphocyte	germinal center B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000844	"" []	2021426	\N	\N	EFO	4	EFO	lymphocyte	germinal center B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000844	"" []	3176047	\N	\N	EFO	5	EFO	leukocyte	germinal center B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000844	"" []	3176048	\N	\N	EFO	5	EFO	nongranular leukocyte	germinal center B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000844	"" []	4386773	\N	\N	EFO	6	EFO	hematopoietic cell	germinal center B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000844	"" []	4386774	\N	\N	EFO	6	EFO	leukocyte	germinal center B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000844	"" []	5407909	\N	\N	EFO	7	EFO	cell type	germinal center B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000844	"" []	5407910	\N	\N	EFO	7	EFO	hematopoietic cell	germinal center B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000844	"" []	6146915	\N	\N	EFO	8	EFO	material entity	germinal center B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000844	"" []	6146916	\N	\N	EFO	8	EFO	somatic cell	germinal center B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000844	"" []	6631513	\N	\N	EFO	9	EFO	experimental factor	germinal center B cell
CL:0000845	\N	\N	"" []	CL:0000845	"" []	63101	\N	\N	EFO	0	EFO	marginal zone B cell	marginal zone B cell
CL:0000785	CL:0000845	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000845	"" []	202784	\N	\N	EFO	1	EFO	mature B cell	marginal zone B cell
CL:0000785	CL:0000845	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000845	"" []	202785	\N	\N	EFO	1	EFO	mature B cell	marginal zone B cell
CL:2000074	CL:0000845	\N	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	CL:0000845	"" []	202786	\N	\N	EFO	1	EFO	splenocyte	marginal zone B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000845	"" []	555710	\N	\N	EFO	2	EFO	B cell	marginal zone B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000845	"" []	555711	\N	\N	EFO	2	EFO	B cell	marginal zone B cell
CL:0000738	CL:2000074	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000845	"" []	555712	\N	\N	EFO	2	EFO	leukocyte	marginal zone B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000845	"" []	1138367	\N	\N	EFO	3	EFO	lymphocyte of B lineage	marginal zone B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000845	"" []	1138368	\N	\N	EFO	3	EFO	lymphocyte of B lineage	marginal zone B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000845	"" []	5407912	\N	\N	EFO	7	EFO	hematopoietic cell	marginal zone B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000845	"" []	2021427	\N	\N	EFO	4	EFO	lymphocyte	marginal zone B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000845	"" []	2021428	\N	\N	EFO	4	EFO	lymphocyte	marginal zone B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000845	"" []	5801807	\N	\N	EFO	8	EFO	somatic cell	marginal zone B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000845	"" []	3176049	\N	\N	EFO	5	EFO	leukocyte	marginal zone B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000845	"" []	3176050	\N	\N	EFO	5	EFO	nongranular leukocyte	marginal zone B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000845	"" []	4386775	\N	\N	EFO	6	EFO	hematopoietic cell	marginal zone B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000845	"" []	4386776	\N	\N	EFO	6	EFO	leukocyte	marginal zone B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000845	"" []	5407911	\N	\N	EFO	7	EFO	cell type	marginal zone B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000845	"" []	6146917	\N	\N	EFO	8	EFO	material entity	marginal zone B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000845	"" []	6631514	\N	\N	EFO	9	EFO	experimental factor	marginal zone B cell
CL:0000860	\N	\N	"" []	CL:0000860	"" []	63102	\N	\N	EFO	0	EFO	classical monocyte	classical monocyte
CL:0000234	\N	\N	"Any cell capable of ingesting particulate matter via phagocytosis." [GOC:add, ISBN:0721601464]	CL:0000860	"" []	194211	\N	\N	EFO	0	EFO	phagocyte	classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0000860	"" []	202787	\N	\N	EFO	1	EFO	monocyte	classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0000860	"" []	202788	\N	\N	EFO	1	EFO	monocyte	classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0000860	"" []	555713	\N	\N	EFO	2	EFO	myeloid leukocyte	classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0000860	"" []	555714	\N	\N	EFO	2	EFO	myeloid leukocyte	classical monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0000860	"" []	555715	\N	\N	EFO	2	EFO	mononuclear cell	classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000860	"" []	1138370	\N	\N	EFO	3	EFO	leukocyte	classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000860	"" []	1138371	\N	\N	EFO	3	EFO	leukocyte	classical monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000860	"" []	1138372	\N	\N	EFO	3	EFO	myeloid cell	classical monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0000860	"" []	1138373	\N	\N	EFO	3	EFO	nongranular leukocyte	classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000860	"" []	2021430	\N	\N	EFO	4	EFO	hematopoietic cell	classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000860	"" []	3176053	\N	\N	EFO	5	EFO	hematopoietic cell	classical monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000860	"" []	2021432	\N	\N	EFO	4	EFO	hematopoietic cell	classical monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000860	"" []	2021433	\N	\N	EFO	4	EFO	leukocyte	classical monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000860	"" []	3176051	\N	\N	EFO	5	EFO	cell type	classical monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000860	"" []	4132413	\N	\N	EFO	6	EFO	somatic cell	classical monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000860	"" []	4386777	\N	\N	EFO	6	EFO	material entity	classical monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000860	"" []	5407913	\N	\N	EFO	7	EFO	experimental factor	classical monocyte
CL:0000861	\N	\N	"" []	CL:0000861	"" []	63103	\N	\N	EFO	0	EFO	elicited macrophage	elicited macrophage
CL:0000235	CL:0000861	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000861	"" []	202789	\N	\N	EFO	1	EFO	macrophage	elicited macrophage
CL:0000235	CL:0000861	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000861	"" []	202790	\N	\N	EFO	1	EFO	macrophage	elicited macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000861	"" []	555716	\N	\N	EFO	2	EFO	myeloid leukocyte	elicited macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000861	"" []	555717	\N	\N	EFO	2	EFO	myeloid leukocyte	elicited macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000861	"" []	1138374	\N	\N	EFO	3	EFO	leukocyte	elicited macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000861	"" []	1138375	\N	\N	EFO	3	EFO	leukocyte	elicited macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000861	"" []	1138376	\N	\N	EFO	3	EFO	myeloid cell	elicited macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000861	"" []	2021434	\N	\N	EFO	4	EFO	hematopoietic cell	elicited macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000861	"" []	2021435	\N	\N	EFO	4	EFO	hematopoietic cell	elicited macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000861	"" []	2021436	\N	\N	EFO	4	EFO	hematopoietic cell	elicited macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000861	"" []	3176054	\N	\N	EFO	5	EFO	cell type	elicited macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000861	"" []	3176055	\N	\N	EFO	5	EFO	somatic cell	elicited macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000861	"" []	4386778	\N	\N	EFO	6	EFO	material entity	elicited macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000861	"" []	5407914	\N	\N	EFO	7	EFO	experimental factor	elicited macrophage
CL:0000862	\N	\N	"" []	CL:0000862	"" []	63104	\N	\N	EFO	0	EFO	suppressor macrophage	suppressor macrophage
CL:0000861	CL:0000862	\N	"" []	CL:0000862	"" []	202791	\N	\N	EFO	1	EFO	elicited macrophage	suppressor macrophage
CL:0000861	CL:0000862	\N	"" []	CL:0000862	"" []	202792	\N	\N	EFO	1	EFO	elicited macrophage	suppressor macrophage
CL:0000235	CL:0000861	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000862	"" []	555718	\N	\N	EFO	2	EFO	macrophage	suppressor macrophage
CL:0000235	CL:0000861	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000862	"" []	555719	\N	\N	EFO	2	EFO	macrophage	suppressor macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000862	"" []	1138377	\N	\N	EFO	3	EFO	myeloid leukocyte	suppressor macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000862	"" []	1138378	\N	\N	EFO	3	EFO	myeloid leukocyte	suppressor macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000862	"" []	2021437	\N	\N	EFO	4	EFO	leukocyte	suppressor macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000862	"" []	2021438	\N	\N	EFO	4	EFO	leukocyte	suppressor macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000862	"" []	2021439	\N	\N	EFO	4	EFO	myeloid cell	suppressor macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000862	"" []	3176056	\N	\N	EFO	5	EFO	hematopoietic cell	suppressor macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000862	"" []	3176057	\N	\N	EFO	5	EFO	hematopoietic cell	suppressor macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000862	"" []	3176058	\N	\N	EFO	5	EFO	hematopoietic cell	suppressor macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000862	"" []	4386779	\N	\N	EFO	6	EFO	cell type	suppressor macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000862	"" []	4386780	\N	\N	EFO	6	EFO	somatic cell	suppressor macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000862	"" []	5407915	\N	\N	EFO	7	EFO	material entity	suppressor macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000862	"" []	6146918	\N	\N	EFO	8	EFO	experimental factor	suppressor macrophage
CL:0000863	\N	\N	"" []	CL:0000863	"" []	63105	\N	\N	EFO	0	EFO	inflammatory macrophage	inflammatory macrophage
CL:0000861	CL:0000863	\N	"" []	CL:0000863	"" []	202793	\N	\N	EFO	1	EFO	elicited macrophage	inflammatory macrophage
CL:0000861	CL:0000863	\N	"" []	CL:0000863	"" []	202794	\N	\N	EFO	1	EFO	elicited macrophage	inflammatory macrophage
CL:0000235	CL:0000861	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000863	"" []	555720	\N	\N	EFO	2	EFO	macrophage	inflammatory macrophage
CL:0000235	CL:0000861	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000863	"" []	555721	\N	\N	EFO	2	EFO	macrophage	inflammatory macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000863	"" []	1138379	\N	\N	EFO	3	EFO	myeloid leukocyte	inflammatory macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000863	"" []	1138380	\N	\N	EFO	3	EFO	myeloid leukocyte	inflammatory macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000863	"" []	2021440	\N	\N	EFO	4	EFO	leukocyte	inflammatory macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000863	"" []	2021441	\N	\N	EFO	4	EFO	leukocyte	inflammatory macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000863	"" []	2021442	\N	\N	EFO	4	EFO	myeloid cell	inflammatory macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000863	"" []	3176059	\N	\N	EFO	5	EFO	hematopoietic cell	inflammatory macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000863	"" []	3176060	\N	\N	EFO	5	EFO	hematopoietic cell	inflammatory macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000863	"" []	3176061	\N	\N	EFO	5	EFO	hematopoietic cell	inflammatory macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000863	"" []	4386781	\N	\N	EFO	6	EFO	cell type	inflammatory macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000863	"" []	4386782	\N	\N	EFO	6	EFO	somatic cell	inflammatory macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000863	"" []	5407916	\N	\N	EFO	7	EFO	material entity	inflammatory macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000863	"" []	6146919	\N	\N	EFO	8	EFO	experimental factor	inflammatory macrophage
CL:0000864	\N	\N	"" []	CL:0000864	"" []	63106	\N	\N	EFO	0	EFO	tissue-resident macrophage	tissue-resident macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000864	"" []	202795	\N	\N	EFO	1	EFO	macrophage	tissue-resident macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000864	"" []	202796	\N	\N	EFO	1	EFO	macrophage	tissue-resident macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000864	"" []	555722	\N	\N	EFO	2	EFO	myeloid leukocyte	tissue-resident macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000864	"" []	555723	\N	\N	EFO	2	EFO	myeloid leukocyte	tissue-resident macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000864	"" []	1138381	\N	\N	EFO	3	EFO	leukocyte	tissue-resident macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000864	"" []	1138382	\N	\N	EFO	3	EFO	leukocyte	tissue-resident macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000864	"" []	1138383	\N	\N	EFO	3	EFO	myeloid cell	tissue-resident macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000864	"" []	2021443	\N	\N	EFO	4	EFO	hematopoietic cell	tissue-resident macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000864	"" []	2021444	\N	\N	EFO	4	EFO	hematopoietic cell	tissue-resident macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000864	"" []	2021445	\N	\N	EFO	4	EFO	hematopoietic cell	tissue-resident macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000864	"" []	3176062	\N	\N	EFO	5	EFO	cell type	tissue-resident macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000864	"" []	3176063	\N	\N	EFO	5	EFO	somatic cell	tissue-resident macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000864	"" []	4386783	\N	\N	EFO	6	EFO	material entity	tissue-resident macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000864	"" []	5407917	\N	\N	EFO	7	EFO	experimental factor	tissue-resident macrophage
CL:0000865	\N	\N	"" []	CL:0000865	"" []	63107	\N	\N	EFO	0	EFO	gastrointestinal tract (lamina propria) macrophage	gastrointestinal tract (lamina propria) macrophage
CL:0000885	CL:0000865	\N	"" []	CL:0000865	"" []	202797	\N	\N	EFO	1	EFO	gut-associated lymphoid tissue macrophage	gastrointestinal tract (lamina propria) macrophage
CL:0000885	CL:0000865	\N	"" []	CL:0000865	"" []	202798	\N	\N	EFO	1	EFO	gut-associated lymphoid tissue macrophage	gastrointestinal tract (lamina propria) macrophage
CL:0000884	CL:0000885	\N	"" []	CL:0000865	"" []	555724	\N	\N	EFO	2	EFO	mucosa-associated lymphoid tissue macrophage	gastrointestinal tract (lamina propria) macrophage
CL:0000884	CL:0000885	\N	"" []	CL:0000865	"" []	555725	\N	\N	EFO	2	EFO	mucosa-associated lymphoid tissue macrophage	gastrointestinal tract (lamina propria) macrophage
CL:0000867	CL:0000884	\N	"" []	CL:0000865	"" []	1138384	\N	\N	EFO	3	EFO	secondary lymphoid organ macrophage	gastrointestinal tract (lamina propria) macrophage
CL:0000867	CL:0000884	\N	"" []	CL:0000865	"" []	1138385	\N	\N	EFO	3	EFO	secondary lymphoid organ macrophage	gastrointestinal tract (lamina propria) macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000865	"" []	2021446	\N	\N	EFO	4	EFO	tissue-resident macrophage	gastrointestinal tract (lamina propria) macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000865	"" []	2021447	\N	\N	EFO	4	EFO	tissue-resident macrophage	gastrointestinal tract (lamina propria) macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000865	"" []	3176064	\N	\N	EFO	5	EFO	macrophage	gastrointestinal tract (lamina propria) macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000865	"" []	3176065	\N	\N	EFO	5	EFO	macrophage	gastrointestinal tract (lamina propria) macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000865	"" []	4386784	\N	\N	EFO	6	EFO	myeloid leukocyte	gastrointestinal tract (lamina propria) macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000865	"" []	4386785	\N	\N	EFO	6	EFO	myeloid leukocyte	gastrointestinal tract (lamina propria) macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000865	"" []	5407918	\N	\N	EFO	7	EFO	leukocyte	gastrointestinal tract (lamina propria) macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000865	"" []	5407919	\N	\N	EFO	7	EFO	leukocyte	gastrointestinal tract (lamina propria) macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000865	"" []	5407920	\N	\N	EFO	7	EFO	myeloid cell	gastrointestinal tract (lamina propria) macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000865	"" []	6146920	\N	\N	EFO	8	EFO	hematopoietic cell	gastrointestinal tract (lamina propria) macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000865	"" []	6146921	\N	\N	EFO	8	EFO	hematopoietic cell	gastrointestinal tract (lamina propria) macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000865	"" []	6146922	\N	\N	EFO	8	EFO	hematopoietic cell	gastrointestinal tract (lamina propria) macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000865	"" []	6631515	\N	\N	EFO	9	EFO	cell type	gastrointestinal tract (lamina propria) macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000865	"" []	6631516	\N	\N	EFO	9	EFO	somatic cell	gastrointestinal tract (lamina propria) macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000865	"" []	6925134	\N	\N	EFO	10	EFO	material entity	gastrointestinal tract (lamina propria) macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000865	"" []	7098914	\N	\N	EFO	11	EFO	experimental factor	gastrointestinal tract (lamina propria) macrophage
CL:0000866	\N	\N	"" []	CL:0000866	"" []	63108	\N	\N	EFO	0	EFO	thymic macrophage	thymic macrophage
CL:0000864	CL:0000866	\N	"" []	CL:0000866	"" []	202799	\N	\N	EFO	1	EFO	tissue-resident macrophage	thymic macrophage
CL:0000864	CL:0000866	\N	"" []	CL:0000866	"" []	202800	\N	\N	EFO	1	EFO	tissue-resident macrophage	thymic macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000866	"" []	555726	\N	\N	EFO	2	EFO	macrophage	thymic macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000866	"" []	555727	\N	\N	EFO	2	EFO	macrophage	thymic macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000866	"" []	1138386	\N	\N	EFO	3	EFO	myeloid leukocyte	thymic macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000866	"" []	1138387	\N	\N	EFO	3	EFO	myeloid leukocyte	thymic macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000866	"" []	2021448	\N	\N	EFO	4	EFO	leukocyte	thymic macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000866	"" []	2021449	\N	\N	EFO	4	EFO	leukocyte	thymic macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000866	"" []	2021450	\N	\N	EFO	4	EFO	myeloid cell	thymic macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000866	"" []	3176066	\N	\N	EFO	5	EFO	hematopoietic cell	thymic macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000866	"" []	3176067	\N	\N	EFO	5	EFO	hematopoietic cell	thymic macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000866	"" []	3176068	\N	\N	EFO	5	EFO	hematopoietic cell	thymic macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000866	"" []	4386786	\N	\N	EFO	6	EFO	cell type	thymic macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000866	"" []	4386787	\N	\N	EFO	6	EFO	somatic cell	thymic macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000866	"" []	5407921	\N	\N	EFO	7	EFO	material entity	thymic macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000866	"" []	6146923	\N	\N	EFO	8	EFO	experimental factor	thymic macrophage
CL:0000867	\N	\N	"" []	CL:0000867	"" []	63109	\N	\N	EFO	0	EFO	secondary lymphoid organ macrophage	secondary lymphoid organ macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000867	"" []	202801	\N	\N	EFO	1	EFO	tissue-resident macrophage	secondary lymphoid organ macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000867	"" []	202802	\N	\N	EFO	1	EFO	tissue-resident macrophage	secondary lymphoid organ macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000867	"" []	555728	\N	\N	EFO	2	EFO	macrophage	secondary lymphoid organ macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000867	"" []	555729	\N	\N	EFO	2	EFO	macrophage	secondary lymphoid organ macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000867	"" []	1138388	\N	\N	EFO	3	EFO	myeloid leukocyte	secondary lymphoid organ macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000867	"" []	1138389	\N	\N	EFO	3	EFO	myeloid leukocyte	secondary lymphoid organ macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000867	"" []	2021451	\N	\N	EFO	4	EFO	leukocyte	secondary lymphoid organ macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000867	"" []	2021452	\N	\N	EFO	4	EFO	leukocyte	secondary lymphoid organ macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000867	"" []	2021453	\N	\N	EFO	4	EFO	myeloid cell	secondary lymphoid organ macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000867	"" []	3176069	\N	\N	EFO	5	EFO	hematopoietic cell	secondary lymphoid organ macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000867	"" []	3176070	\N	\N	EFO	5	EFO	hematopoietic cell	secondary lymphoid organ macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000867	"" []	3176071	\N	\N	EFO	5	EFO	hematopoietic cell	secondary lymphoid organ macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000867	"" []	4386788	\N	\N	EFO	6	EFO	cell type	secondary lymphoid organ macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000867	"" []	4386789	\N	\N	EFO	6	EFO	somatic cell	secondary lymphoid organ macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000867	"" []	5407922	\N	\N	EFO	7	EFO	material entity	secondary lymphoid organ macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000867	"" []	6146924	\N	\N	EFO	8	EFO	experimental factor	secondary lymphoid organ macrophage
CL:0000868	\N	\N	"" []	CL:0000868	"" []	63110	\N	\N	EFO	0	EFO	lymph node macrophage	lymph node macrophage
CL:0000867	CL:0000868	\N	"" []	CL:0000868	"" []	202803	\N	\N	EFO	1	EFO	secondary lymphoid organ macrophage	lymph node macrophage
CL:0000867	CL:0000868	\N	"" []	CL:0000868	"" []	202804	\N	\N	EFO	1	EFO	secondary lymphoid organ macrophage	lymph node macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000868	"" []	555730	\N	\N	EFO	2	EFO	tissue-resident macrophage	lymph node macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000868	"" []	555731	\N	\N	EFO	2	EFO	tissue-resident macrophage	lymph node macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000868	"" []	1138390	\N	\N	EFO	3	EFO	macrophage	lymph node macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000868	"" []	1138391	\N	\N	EFO	3	EFO	macrophage	lymph node macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000868	"" []	2021454	\N	\N	EFO	4	EFO	myeloid leukocyte	lymph node macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000868	"" []	2021455	\N	\N	EFO	4	EFO	myeloid leukocyte	lymph node macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000868	"" []	3176072	\N	\N	EFO	5	EFO	leukocyte	lymph node macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000868	"" []	3176073	\N	\N	EFO	5	EFO	leukocyte	lymph node macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000868	"" []	3176074	\N	\N	EFO	5	EFO	myeloid cell	lymph node macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000868	"" []	4386790	\N	\N	EFO	6	EFO	hematopoietic cell	lymph node macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000868	"" []	4386791	\N	\N	EFO	6	EFO	hematopoietic cell	lymph node macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000868	"" []	4386792	\N	\N	EFO	6	EFO	hematopoietic cell	lymph node macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000868	"" []	5407923	\N	\N	EFO	7	EFO	cell type	lymph node macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000868	"" []	5407924	\N	\N	EFO	7	EFO	somatic cell	lymph node macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000868	"" []	6146925	\N	\N	EFO	8	EFO	material entity	lymph node macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000868	"" []	6631517	\N	\N	EFO	9	EFO	experimental factor	lymph node macrophage
CL:0000869	\N	\N	"" []	CL:0000869	"" []	63111	\N	\N	EFO	0	EFO	tonsillar macrophage	tonsillar macrophage
CL:0000884	CL:0000869	\N	"" []	CL:0000869	"" []	202805	\N	\N	EFO	1	EFO	mucosa-associated lymphoid tissue macrophage	tonsillar macrophage
CL:0000885	CL:0000869	\N	"" []	CL:0000869	"" []	202806	\N	\N	EFO	1	EFO	gut-associated lymphoid tissue macrophage	tonsillar macrophage
CL:0000867	CL:0000884	\N	"" []	CL:0000869	"" []	555732	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	tonsillar macrophage
CL:0000884	CL:0000885	\N	"" []	CL:0000869	"" []	555733	\N	\N	EFO	2	EFO	mucosa-associated lymphoid tissue macrophage	tonsillar macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000869	"" []	1138392	\N	\N	EFO	3	EFO	tissue-resident macrophage	tonsillar macrophage
CL:0000867	CL:0000884	\N	"" []	CL:0000869	"" []	1138393	\N	\N	EFO	3	EFO	secondary lymphoid organ macrophage	tonsillar macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000869	"" []	2021456	\N	\N	EFO	4	EFO	macrophage	tonsillar macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000869	"" []	2021457	\N	\N	EFO	4	EFO	tissue-resident macrophage	tonsillar macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000869	"" []	3176075	\N	\N	EFO	5	EFO	myeloid leukocyte	tonsillar macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000869	"" []	3176076	\N	\N	EFO	5	EFO	macrophage	tonsillar macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000869	"" []	4386793	\N	\N	EFO	6	EFO	leukocyte	tonsillar macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000869	"" []	4386794	\N	\N	EFO	6	EFO	myeloid leukocyte	tonsillar macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000869	"" []	5407925	\N	\N	EFO	7	EFO	hematopoietic cell	tonsillar macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000869	"" []	5407926	\N	\N	EFO	7	EFO	leukocyte	tonsillar macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000869	"" []	5407927	\N	\N	EFO	7	EFO	myeloid cell	tonsillar macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000869	"" []	6146926	\N	\N	EFO	8	EFO	cell type	tonsillar macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000869	"" []	6146927	\N	\N	EFO	8	EFO	hematopoietic cell	tonsillar macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000869	"" []	6146928	\N	\N	EFO	8	EFO	hematopoietic cell	tonsillar macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000869	"" []	6631518	\N	\N	EFO	9	EFO	material entity	tonsillar macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000869	"" []	6631519	\N	\N	EFO	9	EFO	somatic cell	tonsillar macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000869	"" []	6925135	\N	\N	EFO	10	EFO	experimental factor	tonsillar macrophage
CL:0000870	\N	\N	"" []	CL:0000870	"" []	63112	\N	\N	EFO	0	EFO	Peyer's patch macrophage	Peyer's patch macrophage
CL:0000885	CL:0000870	\N	"" []	CL:0000870	"" []	202807	\N	\N	EFO	1	EFO	gut-associated lymphoid tissue macrophage	Peyer's patch macrophage
CL:0000885	CL:0000870	\N	"" []	CL:0000870	"" []	202808	\N	\N	EFO	1	EFO	gut-associated lymphoid tissue macrophage	Peyer's patch macrophage
CL:0000884	CL:0000885	\N	"" []	CL:0000870	"" []	555734	\N	\N	EFO	2	EFO	mucosa-associated lymphoid tissue macrophage	Peyer's patch macrophage
CL:0000884	CL:0000885	\N	"" []	CL:0000870	"" []	555735	\N	\N	EFO	2	EFO	mucosa-associated lymphoid tissue macrophage	Peyer's patch macrophage
CL:0000867	CL:0000884	\N	"" []	CL:0000870	"" []	1138394	\N	\N	EFO	3	EFO	secondary lymphoid organ macrophage	Peyer's patch macrophage
CL:0000867	CL:0000884	\N	"" []	CL:0000870	"" []	1138395	\N	\N	EFO	3	EFO	secondary lymphoid organ macrophage	Peyer's patch macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000870	"" []	2021458	\N	\N	EFO	4	EFO	tissue-resident macrophage	Peyer's patch macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000870	"" []	2021459	\N	\N	EFO	4	EFO	tissue-resident macrophage	Peyer's patch macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000870	"" []	3176077	\N	\N	EFO	5	EFO	macrophage	Peyer's patch macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000870	"" []	3176078	\N	\N	EFO	5	EFO	macrophage	Peyer's patch macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000870	"" []	4386795	\N	\N	EFO	6	EFO	myeloid leukocyte	Peyer's patch macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000870	"" []	4386796	\N	\N	EFO	6	EFO	myeloid leukocyte	Peyer's patch macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000870	"" []	5407928	\N	\N	EFO	7	EFO	leukocyte	Peyer's patch macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000870	"" []	5407929	\N	\N	EFO	7	EFO	leukocyte	Peyer's patch macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000870	"" []	5407930	\N	\N	EFO	7	EFO	myeloid cell	Peyer's patch macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000870	"" []	6146929	\N	\N	EFO	8	EFO	hematopoietic cell	Peyer's patch macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000870	"" []	6146930	\N	\N	EFO	8	EFO	hematopoietic cell	Peyer's patch macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000870	"" []	6146931	\N	\N	EFO	8	EFO	hematopoietic cell	Peyer's patch macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000870	"" []	6631520	\N	\N	EFO	9	EFO	cell type	Peyer's patch macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000870	"" []	6631521	\N	\N	EFO	9	EFO	somatic cell	Peyer's patch macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000870	"" []	6925136	\N	\N	EFO	10	EFO	material entity	Peyer's patch macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000870	"" []	7098915	\N	\N	EFO	11	EFO	experimental factor	Peyer's patch macrophage
CL:0000871	\N	\N	"" []	CL:0000871	"" []	63113	\N	\N	EFO	0	EFO	splenic macrophage	splenic macrophage
CL:0000867	CL:0000871	\N	"" []	CL:0000871	"" []	202809	\N	\N	EFO	1	EFO	secondary lymphoid organ macrophage	splenic macrophage
CL:0000867	CL:0000871	\N	"" []	CL:0000871	"" []	202810	\N	\N	EFO	1	EFO	secondary lymphoid organ macrophage	splenic macrophage
CL:2000074	CL:0000871	\N	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	CL:0000871	"" []	202811	\N	\N	EFO	1	EFO	splenocyte	splenic macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000871	"" []	555736	\N	\N	EFO	2	EFO	tissue-resident macrophage	splenic macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000871	"" []	555737	\N	\N	EFO	2	EFO	tissue-resident macrophage	splenic macrophage
CL:0000738	CL:2000074	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000871	"" []	555738	\N	\N	EFO	2	EFO	leukocyte	splenic macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000871	"" []	1138396	\N	\N	EFO	3	EFO	macrophage	splenic macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000871	"" []	1138397	\N	\N	EFO	3	EFO	macrophage	splenic macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000871	"" []	4386798	\N	\N	EFO	6	EFO	hematopoietic cell	splenic macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000871	"" []	2021460	\N	\N	EFO	4	EFO	myeloid leukocyte	splenic macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000871	"" []	2021461	\N	\N	EFO	4	EFO	myeloid leukocyte	splenic macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000871	"" []	5028318	\N	\N	EFO	7	EFO	somatic cell	splenic macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000871	"" []	3176079	\N	\N	EFO	5	EFO	leukocyte	splenic macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000871	"" []	3176080	\N	\N	EFO	5	EFO	leukocyte	splenic macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000871	"" []	3176081	\N	\N	EFO	5	EFO	myeloid cell	splenic macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000871	"" []	4386797	\N	\N	EFO	6	EFO	hematopoietic cell	splenic macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000871	"" []	4386799	\N	\N	EFO	6	EFO	hematopoietic cell	splenic macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000871	"" []	5407931	\N	\N	EFO	7	EFO	cell type	splenic macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000871	"" []	6146932	\N	\N	EFO	8	EFO	material entity	splenic macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000871	"" []	6631522	\N	\N	EFO	9	EFO	experimental factor	splenic macrophage
CL:0000872	\N	\N	"" []	CL:0000872	"" []	63114	\N	\N	EFO	0	EFO	splenic marginal zone macrophage	splenic marginal zone macrophage
CL:0000871	CL:0000872	\N	"" []	CL:0000872	"" []	202812	\N	\N	EFO	1	EFO	splenic macrophage	splenic marginal zone macrophage
CL:0000871	CL:0000872	\N	"" []	CL:0000872	"" []	202813	\N	\N	EFO	1	EFO	splenic macrophage	splenic marginal zone macrophage
CL:0000867	CL:0000871	\N	"" []	CL:0000872	"" []	555739	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	splenic marginal zone macrophage
CL:0000867	CL:0000871	\N	"" []	CL:0000872	"" []	555740	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	splenic marginal zone macrophage
CL:2000074	CL:0000871	\N	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	CL:0000872	"" []	555741	\N	\N	EFO	2	EFO	splenocyte	splenic marginal zone macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000872	"" []	1138399	\N	\N	EFO	3	EFO	tissue-resident macrophage	splenic marginal zone macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000872	"" []	1138400	\N	\N	EFO	3	EFO	tissue-resident macrophage	splenic marginal zone macrophage
CL:0000738	CL:2000074	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000872	"" []	1138401	\N	\N	EFO	3	EFO	leukocyte	splenic marginal zone macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000872	"" []	2021463	\N	\N	EFO	4	EFO	macrophage	splenic marginal zone macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000872	"" []	2021464	\N	\N	EFO	4	EFO	macrophage	splenic marginal zone macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000872	"" []	5407933	\N	\N	EFO	7	EFO	hematopoietic cell	splenic marginal zone macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000872	"" []	3176082	\N	\N	EFO	5	EFO	myeloid leukocyte	splenic marginal zone macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000872	"" []	3176083	\N	\N	EFO	5	EFO	myeloid leukocyte	splenic marginal zone macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000872	"" []	5817340	\N	\N	EFO	8	EFO	somatic cell	splenic marginal zone macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000872	"" []	4386800	\N	\N	EFO	6	EFO	leukocyte	splenic marginal zone macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000872	"" []	4386801	\N	\N	EFO	6	EFO	leukocyte	splenic marginal zone macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000872	"" []	4386802	\N	\N	EFO	6	EFO	myeloid cell	splenic marginal zone macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000872	"" []	5407932	\N	\N	EFO	7	EFO	hematopoietic cell	splenic marginal zone macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000872	"" []	5407934	\N	\N	EFO	7	EFO	hematopoietic cell	splenic marginal zone macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000872	"" []	6146933	\N	\N	EFO	8	EFO	cell type	splenic marginal zone macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000872	"" []	6631523	\N	\N	EFO	9	EFO	material entity	splenic marginal zone macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000872	"" []	6925137	\N	\N	EFO	10	EFO	experimental factor	splenic marginal zone macrophage
CL:0000873	\N	\N	"" []	CL:0000873	"" []	63115	\N	\N	EFO	0	EFO	splenic metallophillic macrophage	splenic metallophillic macrophage
CL:0000871	CL:0000873	\N	"" []	CL:0000873	"" []	202814	\N	\N	EFO	1	EFO	splenic macrophage	splenic metallophillic macrophage
CL:0000871	CL:0000873	\N	"" []	CL:0000873	"" []	202815	\N	\N	EFO	1	EFO	splenic macrophage	splenic metallophillic macrophage
CL:0000867	CL:0000871	\N	"" []	CL:0000873	"" []	555742	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	splenic metallophillic macrophage
CL:0000867	CL:0000871	\N	"" []	CL:0000873	"" []	555743	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	splenic metallophillic macrophage
CL:2000074	CL:0000871	\N	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	CL:0000873	"" []	555744	\N	\N	EFO	2	EFO	splenocyte	splenic metallophillic macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000873	"" []	1138402	\N	\N	EFO	3	EFO	tissue-resident macrophage	splenic metallophillic macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000873	"" []	1138403	\N	\N	EFO	3	EFO	tissue-resident macrophage	splenic metallophillic macrophage
CL:0000738	CL:2000074	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000873	"" []	1138404	\N	\N	EFO	3	EFO	leukocyte	splenic metallophillic macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000873	"" []	2021466	\N	\N	EFO	4	EFO	macrophage	splenic metallophillic macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000873	"" []	2021467	\N	\N	EFO	4	EFO	macrophage	splenic metallophillic macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000873	"" []	5407936	\N	\N	EFO	7	EFO	hematopoietic cell	splenic metallophillic macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000873	"" []	3176085	\N	\N	EFO	5	EFO	myeloid leukocyte	splenic metallophillic macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000873	"" []	3176086	\N	\N	EFO	5	EFO	myeloid leukocyte	splenic metallophillic macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000873	"" []	5817341	\N	\N	EFO	8	EFO	somatic cell	splenic metallophillic macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000873	"" []	4386803	\N	\N	EFO	6	EFO	leukocyte	splenic metallophillic macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000873	"" []	4386804	\N	\N	EFO	6	EFO	leukocyte	splenic metallophillic macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000873	"" []	4386805	\N	\N	EFO	6	EFO	myeloid cell	splenic metallophillic macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000873	"" []	5407935	\N	\N	EFO	7	EFO	hematopoietic cell	splenic metallophillic macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000873	"" []	5407937	\N	\N	EFO	7	EFO	hematopoietic cell	splenic metallophillic macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000873	"" []	6146934	\N	\N	EFO	8	EFO	cell type	splenic metallophillic macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000873	"" []	6631524	\N	\N	EFO	9	EFO	material entity	splenic metallophillic macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000873	"" []	6925138	\N	\N	EFO	10	EFO	experimental factor	splenic metallophillic macrophage
CL:0000874	\N	\N	"" []	CL:0000874	"" []	63116	\N	\N	EFO	0	EFO	splenic red pulp macrophage	splenic red pulp macrophage
CL:0000871	CL:0000874	\N	"" []	CL:0000874	"" []	202816	\N	\N	EFO	1	EFO	splenic macrophage	splenic red pulp macrophage
CL:0000871	CL:0000874	\N	"" []	CL:0000874	"" []	202817	\N	\N	EFO	1	EFO	splenic macrophage	splenic red pulp macrophage
CL:0000867	CL:0000871	\N	"" []	CL:0000874	"" []	555745	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	splenic red pulp macrophage
CL:0000867	CL:0000871	\N	"" []	CL:0000874	"" []	555746	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	splenic red pulp macrophage
CL:2000074	CL:0000871	\N	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	CL:0000874	"" []	555747	\N	\N	EFO	2	EFO	splenocyte	splenic red pulp macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000874	"" []	1138405	\N	\N	EFO	3	EFO	tissue-resident macrophage	splenic red pulp macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000874	"" []	1138406	\N	\N	EFO	3	EFO	tissue-resident macrophage	splenic red pulp macrophage
CL:0000738	CL:2000074	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000874	"" []	1138407	\N	\N	EFO	3	EFO	leukocyte	splenic red pulp macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000874	"" []	2021469	\N	\N	EFO	4	EFO	macrophage	splenic red pulp macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000874	"" []	2021470	\N	\N	EFO	4	EFO	macrophage	splenic red pulp macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000874	"" []	5407939	\N	\N	EFO	7	EFO	hematopoietic cell	splenic red pulp macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000874	"" []	3176088	\N	\N	EFO	5	EFO	myeloid leukocyte	splenic red pulp macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000874	"" []	3176089	\N	\N	EFO	5	EFO	myeloid leukocyte	splenic red pulp macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000874	"" []	5817342	\N	\N	EFO	8	EFO	somatic cell	splenic red pulp macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000874	"" []	4386806	\N	\N	EFO	6	EFO	leukocyte	splenic red pulp macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000874	"" []	4386807	\N	\N	EFO	6	EFO	leukocyte	splenic red pulp macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000874	"" []	4386808	\N	\N	EFO	6	EFO	myeloid cell	splenic red pulp macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000874	"" []	5407938	\N	\N	EFO	7	EFO	hematopoietic cell	splenic red pulp macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000874	"" []	5407940	\N	\N	EFO	7	EFO	hematopoietic cell	splenic red pulp macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000874	"" []	6146935	\N	\N	EFO	8	EFO	cell type	splenic red pulp macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000874	"" []	6631525	\N	\N	EFO	9	EFO	material entity	splenic red pulp macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000874	"" []	6925139	\N	\N	EFO	10	EFO	experimental factor	splenic red pulp macrophage
CL:0000875	\N	\N	"" []	CL:0000875	"" []	63117	\N	\N	EFO	0	EFO	non-classical monocyte	non-classical monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0000875	"" []	202818	\N	\N	EFO	1	EFO	monocyte	non-classical monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0000875	"" []	202819	\N	\N	EFO	1	EFO	monocyte	non-classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0000875	"" []	555748	\N	\N	EFO	2	EFO	myeloid leukocyte	non-classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0000875	"" []	555749	\N	\N	EFO	2	EFO	myeloid leukocyte	non-classical monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0000875	"" []	555750	\N	\N	EFO	2	EFO	mononuclear cell	non-classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000875	"" []	1138408	\N	\N	EFO	3	EFO	leukocyte	non-classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000875	"" []	1138409	\N	\N	EFO	3	EFO	leukocyte	non-classical monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000875	"" []	1138410	\N	\N	EFO	3	EFO	myeloid cell	non-classical monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0000875	"" []	1138411	\N	\N	EFO	3	EFO	nongranular leukocyte	non-classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000875	"" []	2021472	\N	\N	EFO	4	EFO	hematopoietic cell	non-classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000875	"" []	3176093	\N	\N	EFO	5	EFO	hematopoietic cell	non-classical monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000875	"" []	2021474	\N	\N	EFO	4	EFO	hematopoietic cell	non-classical monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000875	"" []	2021475	\N	\N	EFO	4	EFO	leukocyte	non-classical monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000875	"" []	3176091	\N	\N	EFO	5	EFO	cell type	non-classical monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000875	"" []	4132414	\N	\N	EFO	6	EFO	somatic cell	non-classical monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000875	"" []	4386809	\N	\N	EFO	6	EFO	material entity	non-classical monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000875	"" []	5407941	\N	\N	EFO	7	EFO	experimental factor	non-classical monocyte
CL:0000876	\N	\N	"" []	CL:0000876	"" []	63118	\N	\N	EFO	0	EFO	splenic white pulp macrophage	splenic white pulp macrophage
CL:0000871	CL:0000876	\N	"" []	CL:0000876	"" []	202820	\N	\N	EFO	1	EFO	splenic macrophage	splenic white pulp macrophage
CL:0000871	CL:0000876	\N	"" []	CL:0000876	"" []	202821	\N	\N	EFO	1	EFO	splenic macrophage	splenic white pulp macrophage
CL:0000867	CL:0000871	\N	"" []	CL:0000876	"" []	555751	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	splenic white pulp macrophage
CL:0000867	CL:0000871	\N	"" []	CL:0000876	"" []	555752	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	splenic white pulp macrophage
CL:2000074	CL:0000871	\N	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	CL:0000876	"" []	555753	\N	\N	EFO	2	EFO	splenocyte	splenic white pulp macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000876	"" []	1138412	\N	\N	EFO	3	EFO	tissue-resident macrophage	splenic white pulp macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000876	"" []	1138413	\N	\N	EFO	3	EFO	tissue-resident macrophage	splenic white pulp macrophage
CL:0000738	CL:2000074	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000876	"" []	1138414	\N	\N	EFO	3	EFO	leukocyte	splenic white pulp macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000876	"" []	2021476	\N	\N	EFO	4	EFO	macrophage	splenic white pulp macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000876	"" []	2021477	\N	\N	EFO	4	EFO	macrophage	splenic white pulp macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000876	"" []	5407943	\N	\N	EFO	7	EFO	hematopoietic cell	splenic white pulp macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000876	"" []	3176094	\N	\N	EFO	5	EFO	myeloid leukocyte	splenic white pulp macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000876	"" []	3176095	\N	\N	EFO	5	EFO	myeloid leukocyte	splenic white pulp macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000876	"" []	5817343	\N	\N	EFO	8	EFO	somatic cell	splenic white pulp macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000876	"" []	4386810	\N	\N	EFO	6	EFO	leukocyte	splenic white pulp macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000876	"" []	4386811	\N	\N	EFO	6	EFO	leukocyte	splenic white pulp macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000876	"" []	4386812	\N	\N	EFO	6	EFO	myeloid cell	splenic white pulp macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000876	"" []	5407942	\N	\N	EFO	7	EFO	hematopoietic cell	splenic white pulp macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000876	"" []	5407944	\N	\N	EFO	7	EFO	hematopoietic cell	splenic white pulp macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000876	"" []	6146936	\N	\N	EFO	8	EFO	cell type	splenic white pulp macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000876	"" []	6631526	\N	\N	EFO	9	EFO	material entity	splenic white pulp macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000876	"" []	6925140	\N	\N	EFO	10	EFO	experimental factor	splenic white pulp macrophage
CL:0000877	\N	\N	"" []	CL:0000877	"" []	63119	\N	\N	EFO	0	EFO	splenic tingible body macrophage	splenic tingible body macrophage
CL:0000876	CL:0000877	\N	"" []	CL:0000877	"" []	202822	\N	\N	EFO	1	EFO	splenic white pulp macrophage	splenic tingible body macrophage
CL:0000876	CL:0000877	\N	"" []	CL:0000877	"" []	202823	\N	\N	EFO	1	EFO	splenic white pulp macrophage	splenic tingible body macrophage
CL:0000871	CL:0000876	\N	"" []	CL:0000877	"" []	555754	\N	\N	EFO	2	EFO	splenic macrophage	splenic tingible body macrophage
CL:0000871	CL:0000876	\N	"" []	CL:0000877	"" []	555755	\N	\N	EFO	2	EFO	splenic macrophage	splenic tingible body macrophage
CL:0000867	CL:0000871	\N	"" []	CL:0000877	"" []	1138415	\N	\N	EFO	3	EFO	secondary lymphoid organ macrophage	splenic tingible body macrophage
CL:0000867	CL:0000871	\N	"" []	CL:0000877	"" []	1138416	\N	\N	EFO	3	EFO	secondary lymphoid organ macrophage	splenic tingible body macrophage
CL:2000074	CL:0000871	\N	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	CL:0000877	"" []	1138417	\N	\N	EFO	3	EFO	splenocyte	splenic tingible body macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000877	"" []	2021479	\N	\N	EFO	4	EFO	tissue-resident macrophage	splenic tingible body macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000877	"" []	2021480	\N	\N	EFO	4	EFO	tissue-resident macrophage	splenic tingible body macrophage
CL:0000738	CL:2000074	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000877	"" []	2021481	\N	\N	EFO	4	EFO	leukocyte	splenic tingible body macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000877	"" []	3176097	\N	\N	EFO	5	EFO	macrophage	splenic tingible body macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000877	"" []	3176098	\N	\N	EFO	5	EFO	macrophage	splenic tingible body macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000877	"" []	6146938	\N	\N	EFO	8	EFO	hematopoietic cell	splenic tingible body macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000877	"" []	4386813	\N	\N	EFO	6	EFO	myeloid leukocyte	splenic tingible body macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000877	"" []	4386814	\N	\N	EFO	6	EFO	myeloid leukocyte	splenic tingible body macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000877	"" []	6409730	\N	\N	EFO	9	EFO	somatic cell	splenic tingible body macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000877	"" []	5407945	\N	\N	EFO	7	EFO	leukocyte	splenic tingible body macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000877	"" []	5407946	\N	\N	EFO	7	EFO	leukocyte	splenic tingible body macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000877	"" []	5407947	\N	\N	EFO	7	EFO	myeloid cell	splenic tingible body macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000877	"" []	6146937	\N	\N	EFO	8	EFO	hematopoietic cell	splenic tingible body macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000877	"" []	6146939	\N	\N	EFO	8	EFO	hematopoietic cell	splenic tingible body macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000877	"" []	6631527	\N	\N	EFO	9	EFO	cell type	splenic tingible body macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000877	"" []	6925141	\N	\N	EFO	10	EFO	material entity	splenic tingible body macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000877	"" []	7098916	\N	\N	EFO	11	EFO	experimental factor	splenic tingible body macrophage
CL:0000878	\N	\N	"" []	CL:0000878	"" []	63120	\N	\N	EFO	0	EFO	central nervous system macrophage	central nervous system macrophage
CL:0000864	CL:0000878	\N	"" []	CL:0000878	"" []	202824	\N	\N	EFO	1	EFO	tissue-resident macrophage	central nervous system macrophage
CL:0000864	CL:0000878	\N	"" []	CL:0000878	"" []	202825	\N	\N	EFO	1	EFO	tissue-resident macrophage	central nervous system macrophage
CL:0002319	CL:0000878	\N	"" []	CL:0000878	"" []	202826	\N	\N	EFO	1	EFO	neural cell	central nervous system macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000878	"" []	555756	\N	\N	EFO	2	EFO	macrophage	central nervous system macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000878	"" []	555757	\N	\N	EFO	2	EFO	macrophage	central nervous system macrophage
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000878	"" []	555758	\N	\N	EFO	2	EFO	somatic cell	central nervous system macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000878	"" []	1138418	\N	\N	EFO	3	EFO	myeloid leukocyte	central nervous system macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000878	"" []	1138419	\N	\N	EFO	3	EFO	myeloid leukocyte	central nervous system macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000878	"" []	2021482	\N	\N	EFO	4	EFO	leukocyte	central nervous system macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000878	"" []	2021483	\N	\N	EFO	4	EFO	leukocyte	central nervous system macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000878	"" []	2021484	\N	\N	EFO	4	EFO	myeloid cell	central nervous system macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000878	"" []	3176100	\N	\N	EFO	5	EFO	hematopoietic cell	central nervous system macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000878	"" []	3176101	\N	\N	EFO	5	EFO	hematopoietic cell	central nervous system macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000878	"" []	3176102	\N	\N	EFO	5	EFO	hematopoietic cell	central nervous system macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000878	"" []	4386816	\N	\N	EFO	6	EFO	cell type	central nervous system macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000878	"" []	4386817	\N	\N	EFO	6	EFO	somatic cell	central nervous system macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000878	"" []	5407948	\N	\N	EFO	7	EFO	material entity	central nervous system macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000878	"" []	6146940	\N	\N	EFO	8	EFO	experimental factor	central nervous system macrophage
CL:0000879	\N	\N	"" []	CL:0000879	"" []	63121	\N	\N	EFO	0	EFO	meningeal macrophage	meningeal macrophage
CL:0000878	CL:0000879	\N	"" []	CL:0000879	"" []	202827	\N	\N	EFO	1	EFO	central nervous system macrophage	meningeal macrophage
CL:0000878	CL:0000879	\N	"" []	CL:0000879	"" []	202828	\N	\N	EFO	1	EFO	central nervous system macrophage	meningeal macrophage
CL:0000864	CL:0000878	\N	"" []	CL:0000879	"" []	555759	\N	\N	EFO	2	EFO	tissue-resident macrophage	meningeal macrophage
CL:0000864	CL:0000878	\N	"" []	CL:0000879	"" []	555760	\N	\N	EFO	2	EFO	tissue-resident macrophage	meningeal macrophage
CL:0002319	CL:0000878	\N	"" []	CL:0000879	"" []	555761	\N	\N	EFO	2	EFO	neural cell	meningeal macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000879	"" []	1138420	\N	\N	EFO	3	EFO	macrophage	meningeal macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000879	"" []	1138421	\N	\N	EFO	3	EFO	macrophage	meningeal macrophage
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000879	"" []	1138422	\N	\N	EFO	3	EFO	somatic cell	meningeal macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000879	"" []	2021485	\N	\N	EFO	4	EFO	myeloid leukocyte	meningeal macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000879	"" []	2021486	\N	\N	EFO	4	EFO	myeloid leukocyte	meningeal macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000879	"" []	3176103	\N	\N	EFO	5	EFO	leukocyte	meningeal macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000879	"" []	3176104	\N	\N	EFO	5	EFO	leukocyte	meningeal macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000879	"" []	3176105	\N	\N	EFO	5	EFO	myeloid cell	meningeal macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000879	"" []	4386818	\N	\N	EFO	6	EFO	hematopoietic cell	meningeal macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000879	"" []	4386819	\N	\N	EFO	6	EFO	hematopoietic cell	meningeal macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000879	"" []	4386820	\N	\N	EFO	6	EFO	hematopoietic cell	meningeal macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000879	"" []	5407949	\N	\N	EFO	7	EFO	cell type	meningeal macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000879	"" []	5407950	\N	\N	EFO	7	EFO	somatic cell	meningeal macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000879	"" []	6146941	\N	\N	EFO	8	EFO	material entity	meningeal macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000879	"" []	6631528	\N	\N	EFO	9	EFO	experimental factor	meningeal macrophage
CL:0000880	\N	\N	"" []	CL:0000880	"" []	63122	\N	\N	EFO	0	EFO	choroid-plexus macrophage	choroid-plexus macrophage
CL:0000878	CL:0000880	\N	"" []	CL:0000880	"" []	202829	\N	\N	EFO	1	EFO	central nervous system macrophage	choroid-plexus macrophage
CL:0000878	CL:0000880	\N	"" []	CL:0000880	"" []	202830	\N	\N	EFO	1	EFO	central nervous system macrophage	choroid-plexus macrophage
CL:0000864	CL:0000878	\N	"" []	CL:0000880	"" []	555762	\N	\N	EFO	2	EFO	tissue-resident macrophage	choroid-plexus macrophage
CL:0000864	CL:0000878	\N	"" []	CL:0000880	"" []	555763	\N	\N	EFO	2	EFO	tissue-resident macrophage	choroid-plexus macrophage
CL:0002319	CL:0000878	\N	"" []	CL:0000880	"" []	555764	\N	\N	EFO	2	EFO	neural cell	choroid-plexus macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000880	"" []	1138423	\N	\N	EFO	3	EFO	macrophage	choroid-plexus macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000880	"" []	1138424	\N	\N	EFO	3	EFO	macrophage	choroid-plexus macrophage
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000880	"" []	1138425	\N	\N	EFO	3	EFO	somatic cell	choroid-plexus macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000880	"" []	2021487	\N	\N	EFO	4	EFO	myeloid leukocyte	choroid-plexus macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000880	"" []	2021488	\N	\N	EFO	4	EFO	myeloid leukocyte	choroid-plexus macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000880	"" []	3176106	\N	\N	EFO	5	EFO	leukocyte	choroid-plexus macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000880	"" []	3176107	\N	\N	EFO	5	EFO	leukocyte	choroid-plexus macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000880	"" []	3176108	\N	\N	EFO	5	EFO	myeloid cell	choroid-plexus macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000880	"" []	4386821	\N	\N	EFO	6	EFO	hematopoietic cell	choroid-plexus macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000880	"" []	4386822	\N	\N	EFO	6	EFO	hematopoietic cell	choroid-plexus macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000880	"" []	4386823	\N	\N	EFO	6	EFO	hematopoietic cell	choroid-plexus macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000880	"" []	5407951	\N	\N	EFO	7	EFO	cell type	choroid-plexus macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000880	"" []	5407952	\N	\N	EFO	7	EFO	somatic cell	choroid-plexus macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000880	"" []	6146942	\N	\N	EFO	8	EFO	material entity	choroid-plexus macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000880	"" []	6631529	\N	\N	EFO	9	EFO	experimental factor	choroid-plexus macrophage
CL:0000881	\N	\N	"" []	CL:0000881	"" []	63123	\N	\N	EFO	0	EFO	perivascular macrophage	perivascular macrophage
CL:0000878	CL:0000881	\N	"" []	CL:0000881	"" []	202831	\N	\N	EFO	1	EFO	central nervous system macrophage	perivascular macrophage
CL:0000878	CL:0000881	\N	"" []	CL:0000881	"" []	202832	\N	\N	EFO	1	EFO	central nervous system macrophage	perivascular macrophage
CL:0000864	CL:0000878	\N	"" []	CL:0000881	"" []	555765	\N	\N	EFO	2	EFO	tissue-resident macrophage	perivascular macrophage
CL:0000864	CL:0000878	\N	"" []	CL:0000881	"" []	555766	\N	\N	EFO	2	EFO	tissue-resident macrophage	perivascular macrophage
CL:0002319	CL:0000878	\N	"" []	CL:0000881	"" []	555767	\N	\N	EFO	2	EFO	neural cell	perivascular macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000881	"" []	1138426	\N	\N	EFO	3	EFO	macrophage	perivascular macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000881	"" []	1138427	\N	\N	EFO	3	EFO	macrophage	perivascular macrophage
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000881	"" []	1138428	\N	\N	EFO	3	EFO	somatic cell	perivascular macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000881	"" []	2021489	\N	\N	EFO	4	EFO	myeloid leukocyte	perivascular macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000881	"" []	2021490	\N	\N	EFO	4	EFO	myeloid leukocyte	perivascular macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000881	"" []	3176109	\N	\N	EFO	5	EFO	leukocyte	perivascular macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000881	"" []	3176110	\N	\N	EFO	5	EFO	leukocyte	perivascular macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000881	"" []	3176111	\N	\N	EFO	5	EFO	myeloid cell	perivascular macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000881	"" []	4386824	\N	\N	EFO	6	EFO	hematopoietic cell	perivascular macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000881	"" []	4386825	\N	\N	EFO	6	EFO	hematopoietic cell	perivascular macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000881	"" []	4386826	\N	\N	EFO	6	EFO	hematopoietic cell	perivascular macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000881	"" []	5407953	\N	\N	EFO	7	EFO	cell type	perivascular macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000881	"" []	5407954	\N	\N	EFO	7	EFO	somatic cell	perivascular macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000881	"" []	6146943	\N	\N	EFO	8	EFO	material entity	perivascular macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000881	"" []	6631530	\N	\N	EFO	9	EFO	experimental factor	perivascular macrophage
CL:0000882	\N	\N	"" []	CL:0000882	"" []	63124	\N	\N	EFO	0	EFO	thymic medullary macrophage	thymic medullary macrophage
CL:0000866	CL:0000882	\N	"" []	CL:0000882	"" []	202833	\N	\N	EFO	1	EFO	thymic macrophage	thymic medullary macrophage
CL:0000866	CL:0000882	\N	"" []	CL:0000882	"" []	202834	\N	\N	EFO	1	EFO	thymic macrophage	thymic medullary macrophage
CL:0000864	CL:0000866	\N	"" []	CL:0000882	"" []	555768	\N	\N	EFO	2	EFO	tissue-resident macrophage	thymic medullary macrophage
CL:0000864	CL:0000866	\N	"" []	CL:0000882	"" []	555769	\N	\N	EFO	2	EFO	tissue-resident macrophage	thymic medullary macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000882	"" []	1138429	\N	\N	EFO	3	EFO	macrophage	thymic medullary macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000882	"" []	1138430	\N	\N	EFO	3	EFO	macrophage	thymic medullary macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000882	"" []	2021491	\N	\N	EFO	4	EFO	myeloid leukocyte	thymic medullary macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000882	"" []	2021492	\N	\N	EFO	4	EFO	myeloid leukocyte	thymic medullary macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000882	"" []	3176112	\N	\N	EFO	5	EFO	leukocyte	thymic medullary macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000882	"" []	3176113	\N	\N	EFO	5	EFO	leukocyte	thymic medullary macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000882	"" []	3176114	\N	\N	EFO	5	EFO	myeloid cell	thymic medullary macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000882	"" []	4386827	\N	\N	EFO	6	EFO	hematopoietic cell	thymic medullary macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000882	"" []	4386828	\N	\N	EFO	6	EFO	hematopoietic cell	thymic medullary macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000882	"" []	4386829	\N	\N	EFO	6	EFO	hematopoietic cell	thymic medullary macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000882	"" []	5407955	\N	\N	EFO	7	EFO	cell type	thymic medullary macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000882	"" []	5407956	\N	\N	EFO	7	EFO	somatic cell	thymic medullary macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000882	"" []	6146944	\N	\N	EFO	8	EFO	material entity	thymic medullary macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000882	"" []	6631531	\N	\N	EFO	9	EFO	experimental factor	thymic medullary macrophage
CL:0000883	\N	\N	"" []	CL:0000883	"" []	63125	\N	\N	EFO	0	EFO	thymic cortical macrophage	thymic cortical macrophage
CL:0000866	CL:0000883	\N	"" []	CL:0000883	"" []	202835	\N	\N	EFO	1	EFO	thymic macrophage	thymic cortical macrophage
CL:0000866	CL:0000883	\N	"" []	CL:0000883	"" []	202836	\N	\N	EFO	1	EFO	thymic macrophage	thymic cortical macrophage
CL:0000864	CL:0000866	\N	"" []	CL:0000883	"" []	555770	\N	\N	EFO	2	EFO	tissue-resident macrophage	thymic cortical macrophage
CL:0000864	CL:0000866	\N	"" []	CL:0000883	"" []	555771	\N	\N	EFO	2	EFO	tissue-resident macrophage	thymic cortical macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000883	"" []	1138431	\N	\N	EFO	3	EFO	macrophage	thymic cortical macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000883	"" []	1138432	\N	\N	EFO	3	EFO	macrophage	thymic cortical macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000883	"" []	2021493	\N	\N	EFO	4	EFO	myeloid leukocyte	thymic cortical macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000883	"" []	2021494	\N	\N	EFO	4	EFO	myeloid leukocyte	thymic cortical macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000883	"" []	3176115	\N	\N	EFO	5	EFO	leukocyte	thymic cortical macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000883	"" []	3176116	\N	\N	EFO	5	EFO	leukocyte	thymic cortical macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000883	"" []	3176117	\N	\N	EFO	5	EFO	myeloid cell	thymic cortical macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000883	"" []	4386830	\N	\N	EFO	6	EFO	hematopoietic cell	thymic cortical macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000883	"" []	4386831	\N	\N	EFO	6	EFO	hematopoietic cell	thymic cortical macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000883	"" []	4386832	\N	\N	EFO	6	EFO	hematopoietic cell	thymic cortical macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000883	"" []	5407957	\N	\N	EFO	7	EFO	cell type	thymic cortical macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000883	"" []	5407958	\N	\N	EFO	7	EFO	somatic cell	thymic cortical macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000883	"" []	6146945	\N	\N	EFO	8	EFO	material entity	thymic cortical macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000883	"" []	6631532	\N	\N	EFO	9	EFO	experimental factor	thymic cortical macrophage
CL:0000884	\N	\N	"" []	CL:0000884	"" []	63126	\N	\N	EFO	0	EFO	mucosa-associated lymphoid tissue macrophage	mucosa-associated lymphoid tissue macrophage
CL:0000867	CL:0000884	\N	"" []	CL:0000884	"" []	202837	\N	\N	EFO	1	EFO	secondary lymphoid organ macrophage	mucosa-associated lymphoid tissue macrophage
CL:0000867	CL:0000884	\N	"" []	CL:0000884	"" []	202838	\N	\N	EFO	1	EFO	secondary lymphoid organ macrophage	mucosa-associated lymphoid tissue macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000884	"" []	555772	\N	\N	EFO	2	EFO	tissue-resident macrophage	mucosa-associated lymphoid tissue macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000884	"" []	555773	\N	\N	EFO	2	EFO	tissue-resident macrophage	mucosa-associated lymphoid tissue macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000884	"" []	1138433	\N	\N	EFO	3	EFO	macrophage	mucosa-associated lymphoid tissue macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000884	"" []	1138434	\N	\N	EFO	3	EFO	macrophage	mucosa-associated lymphoid tissue macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000884	"" []	2021495	\N	\N	EFO	4	EFO	myeloid leukocyte	mucosa-associated lymphoid tissue macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000884	"" []	2021496	\N	\N	EFO	4	EFO	myeloid leukocyte	mucosa-associated lymphoid tissue macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000884	"" []	3176118	\N	\N	EFO	5	EFO	leukocyte	mucosa-associated lymphoid tissue macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000884	"" []	3176119	\N	\N	EFO	5	EFO	leukocyte	mucosa-associated lymphoid tissue macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000884	"" []	3176120	\N	\N	EFO	5	EFO	myeloid cell	mucosa-associated lymphoid tissue macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000884	"" []	4386833	\N	\N	EFO	6	EFO	hematopoietic cell	mucosa-associated lymphoid tissue macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000884	"" []	4386834	\N	\N	EFO	6	EFO	hematopoietic cell	mucosa-associated lymphoid tissue macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000884	"" []	4386835	\N	\N	EFO	6	EFO	hematopoietic cell	mucosa-associated lymphoid tissue macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000884	"" []	5407959	\N	\N	EFO	7	EFO	cell type	mucosa-associated lymphoid tissue macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000884	"" []	5407960	\N	\N	EFO	7	EFO	somatic cell	mucosa-associated lymphoid tissue macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000884	"" []	6146946	\N	\N	EFO	8	EFO	material entity	mucosa-associated lymphoid tissue macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000884	"" []	6631533	\N	\N	EFO	9	EFO	experimental factor	mucosa-associated lymphoid tissue macrophage
CL:0000885	\N	\N	"" []	CL:0000885	"" []	63127	\N	\N	EFO	0	EFO	gut-associated lymphoid tissue macrophage	gut-associated lymphoid tissue macrophage
CL:0000884	CL:0000885	\N	"" []	CL:0000885	"" []	202839	\N	\N	EFO	1	EFO	mucosa-associated lymphoid tissue macrophage	gut-associated lymphoid tissue macrophage
CL:0000884	CL:0000885	\N	"" []	CL:0000885	"" []	202840	\N	\N	EFO	1	EFO	mucosa-associated lymphoid tissue macrophage	gut-associated lymphoid tissue macrophage
CL:0000867	CL:0000884	\N	"" []	CL:0000885	"" []	555774	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	gut-associated lymphoid tissue macrophage
CL:0000867	CL:0000884	\N	"" []	CL:0000885	"" []	555775	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	gut-associated lymphoid tissue macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000885	"" []	1138435	\N	\N	EFO	3	EFO	tissue-resident macrophage	gut-associated lymphoid tissue macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000885	"" []	1138436	\N	\N	EFO	3	EFO	tissue-resident macrophage	gut-associated lymphoid tissue macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000885	"" []	2021497	\N	\N	EFO	4	EFO	macrophage	gut-associated lymphoid tissue macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000885	"" []	2021498	\N	\N	EFO	4	EFO	macrophage	gut-associated lymphoid tissue macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000885	"" []	3176121	\N	\N	EFO	5	EFO	myeloid leukocyte	gut-associated lymphoid tissue macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000885	"" []	3176122	\N	\N	EFO	5	EFO	myeloid leukocyte	gut-associated lymphoid tissue macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000885	"" []	4386836	\N	\N	EFO	6	EFO	leukocyte	gut-associated lymphoid tissue macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000885	"" []	4386837	\N	\N	EFO	6	EFO	leukocyte	gut-associated lymphoid tissue macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000885	"" []	4386838	\N	\N	EFO	6	EFO	myeloid cell	gut-associated lymphoid tissue macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000885	"" []	5407961	\N	\N	EFO	7	EFO	hematopoietic cell	gut-associated lymphoid tissue macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000885	"" []	5407962	\N	\N	EFO	7	EFO	hematopoietic cell	gut-associated lymphoid tissue macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000885	"" []	5407963	\N	\N	EFO	7	EFO	hematopoietic cell	gut-associated lymphoid tissue macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000885	"" []	6146947	\N	\N	EFO	8	EFO	cell type	gut-associated lymphoid tissue macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000885	"" []	6146948	\N	\N	EFO	8	EFO	somatic cell	gut-associated lymphoid tissue macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000885	"" []	6631534	\N	\N	EFO	9	EFO	material entity	gut-associated lymphoid tissue macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000885	"" []	6925142	\N	\N	EFO	10	EFO	experimental factor	gut-associated lymphoid tissue macrophage
CL:0000886	\N	\N	"" []	CL:0000886	"" []	63128	\N	\N	EFO	0	EFO	nasal and broncial associated lymphoid tissue macrophage	nasal and broncial associated lymphoid tissue macrophage
CL:0000884	CL:0000886	\N	"" []	CL:0000886	"" []	202841	\N	\N	EFO	1	EFO	mucosa-associated lymphoid tissue macrophage	nasal and broncial associated lymphoid tissue macrophage
CL:0000884	CL:0000886	\N	"" []	CL:0000886	"" []	202842	\N	\N	EFO	1	EFO	mucosa-associated lymphoid tissue macrophage	nasal and broncial associated lymphoid tissue macrophage
CL:0000867	CL:0000884	\N	"" []	CL:0000886	"" []	555776	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	nasal and broncial associated lymphoid tissue macrophage
CL:0000867	CL:0000884	\N	"" []	CL:0000886	"" []	555777	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	nasal and broncial associated lymphoid tissue macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000886	"" []	1138437	\N	\N	EFO	3	EFO	tissue-resident macrophage	nasal and broncial associated lymphoid tissue macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000886	"" []	1138438	\N	\N	EFO	3	EFO	tissue-resident macrophage	nasal and broncial associated lymphoid tissue macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000886	"" []	2021499	\N	\N	EFO	4	EFO	macrophage	nasal and broncial associated lymphoid tissue macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000886	"" []	2021500	\N	\N	EFO	4	EFO	macrophage	nasal and broncial associated lymphoid tissue macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000886	"" []	3176123	\N	\N	EFO	5	EFO	myeloid leukocyte	nasal and broncial associated lymphoid tissue macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000886	"" []	3176124	\N	\N	EFO	5	EFO	myeloid leukocyte	nasal and broncial associated lymphoid tissue macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000886	"" []	4386839	\N	\N	EFO	6	EFO	leukocyte	nasal and broncial associated lymphoid tissue macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000886	"" []	4386840	\N	\N	EFO	6	EFO	leukocyte	nasal and broncial associated lymphoid tissue macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000886	"" []	4386841	\N	\N	EFO	6	EFO	myeloid cell	nasal and broncial associated lymphoid tissue macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000886	"" []	5407964	\N	\N	EFO	7	EFO	hematopoietic cell	nasal and broncial associated lymphoid tissue macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000886	"" []	5407965	\N	\N	EFO	7	EFO	hematopoietic cell	nasal and broncial associated lymphoid tissue macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000886	"" []	5407966	\N	\N	EFO	7	EFO	hematopoietic cell	nasal and broncial associated lymphoid tissue macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000886	"" []	6146949	\N	\N	EFO	8	EFO	cell type	nasal and broncial associated lymphoid tissue macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000886	"" []	6146950	\N	\N	EFO	8	EFO	somatic cell	nasal and broncial associated lymphoid tissue macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000886	"" []	6631535	\N	\N	EFO	9	EFO	material entity	nasal and broncial associated lymphoid tissue macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000886	"" []	6925143	\N	\N	EFO	10	EFO	experimental factor	nasal and broncial associated lymphoid tissue macrophage
CL:0000887	\N	\N	"" []	CL:0000887	"" []	63129	\N	\N	EFO	0	EFO	lymph node subcapsular sinus macrophage	lymph node subcapsular sinus macrophage
CL:0000868	CL:0000887	\N	"" []	CL:0000887	"" []	202843	\N	\N	EFO	1	EFO	lymph node macrophage	lymph node subcapsular sinus macrophage
CL:0000868	CL:0000887	\N	"" []	CL:0000887	"" []	202844	\N	\N	EFO	1	EFO	lymph node macrophage	lymph node subcapsular sinus macrophage
CL:0000867	CL:0000868	\N	"" []	CL:0000887	"" []	555778	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	lymph node subcapsular sinus macrophage
CL:0000867	CL:0000868	\N	"" []	CL:0000887	"" []	555779	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	lymph node subcapsular sinus macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000887	"" []	1138439	\N	\N	EFO	3	EFO	tissue-resident macrophage	lymph node subcapsular sinus macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000887	"" []	1138440	\N	\N	EFO	3	EFO	tissue-resident macrophage	lymph node subcapsular sinus macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000887	"" []	2021501	\N	\N	EFO	4	EFO	macrophage	lymph node subcapsular sinus macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000887	"" []	2021502	\N	\N	EFO	4	EFO	macrophage	lymph node subcapsular sinus macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000887	"" []	3176125	\N	\N	EFO	5	EFO	myeloid leukocyte	lymph node subcapsular sinus macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000887	"" []	3176126	\N	\N	EFO	5	EFO	myeloid leukocyte	lymph node subcapsular sinus macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000887	"" []	4386842	\N	\N	EFO	6	EFO	leukocyte	lymph node subcapsular sinus macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000887	"" []	4386843	\N	\N	EFO	6	EFO	leukocyte	lymph node subcapsular sinus macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000887	"" []	4386844	\N	\N	EFO	6	EFO	myeloid cell	lymph node subcapsular sinus macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000887	"" []	5407967	\N	\N	EFO	7	EFO	hematopoietic cell	lymph node subcapsular sinus macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000887	"" []	5407968	\N	\N	EFO	7	EFO	hematopoietic cell	lymph node subcapsular sinus macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000887	"" []	5407969	\N	\N	EFO	7	EFO	hematopoietic cell	lymph node subcapsular sinus macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000887	"" []	6146951	\N	\N	EFO	8	EFO	cell type	lymph node subcapsular sinus macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000887	"" []	6146952	\N	\N	EFO	8	EFO	somatic cell	lymph node subcapsular sinus macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000887	"" []	6631536	\N	\N	EFO	9	EFO	material entity	lymph node subcapsular sinus macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000887	"" []	6925144	\N	\N	EFO	10	EFO	experimental factor	lymph node subcapsular sinus macrophage
CL:0000888	\N	\N	"" []	CL:0000888	"" []	63130	\N	\N	EFO	0	EFO	lymph node tingible body macrophage	lymph node tingible body macrophage
CL:0000868	CL:0000888	\N	"" []	CL:0000888	"" []	202845	\N	\N	EFO	1	EFO	lymph node macrophage	lymph node tingible body macrophage
CL:0000868	CL:0000888	\N	"" []	CL:0000888	"" []	202846	\N	\N	EFO	1	EFO	lymph node macrophage	lymph node tingible body macrophage
CL:0000867	CL:0000868	\N	"" []	CL:0000888	"" []	555780	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	lymph node tingible body macrophage
CL:0000867	CL:0000868	\N	"" []	CL:0000888	"" []	555781	\N	\N	EFO	2	EFO	secondary lymphoid organ macrophage	lymph node tingible body macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000888	"" []	1138441	\N	\N	EFO	3	EFO	tissue-resident macrophage	lymph node tingible body macrophage
CL:0000864	CL:0000867	\N	"" []	CL:0000888	"" []	1138442	\N	\N	EFO	3	EFO	tissue-resident macrophage	lymph node tingible body macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000888	"" []	2021503	\N	\N	EFO	4	EFO	macrophage	lymph node tingible body macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000888	"" []	2021504	\N	\N	EFO	4	EFO	macrophage	lymph node tingible body macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000888	"" []	3176127	\N	\N	EFO	5	EFO	myeloid leukocyte	lymph node tingible body macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000888	"" []	3176128	\N	\N	EFO	5	EFO	myeloid leukocyte	lymph node tingible body macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000888	"" []	4386845	\N	\N	EFO	6	EFO	leukocyte	lymph node tingible body macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000888	"" []	4386846	\N	\N	EFO	6	EFO	leukocyte	lymph node tingible body macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000888	"" []	4386847	\N	\N	EFO	6	EFO	myeloid cell	lymph node tingible body macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000888	"" []	5407970	\N	\N	EFO	7	EFO	hematopoietic cell	lymph node tingible body macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000888	"" []	5407971	\N	\N	EFO	7	EFO	hematopoietic cell	lymph node tingible body macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000888	"" []	5407972	\N	\N	EFO	7	EFO	hematopoietic cell	lymph node tingible body macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000888	"" []	6146953	\N	\N	EFO	8	EFO	cell type	lymph node tingible body macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000888	"" []	6146954	\N	\N	EFO	8	EFO	somatic cell	lymph node tingible body macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000888	"" []	6631537	\N	\N	EFO	9	EFO	material entity	lymph node tingible body macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000888	"" []	6925145	\N	\N	EFO	10	EFO	experimental factor	lymph node tingible body macrophage
CL:0000889	\N	\N	"" []	CL:0000889	"" []	63131	\N	\N	EFO	0	EFO	myeloid suppressor cell	myeloid suppressor cell
CL:0000766	CL:0000889	\N	"" []	CL:0000889	"" []	202847	\N	\N	EFO	1	EFO	myeloid leukocyte	myeloid suppressor cell
CL:0000766	CL:0000889	\N	"" []	CL:0000889	"" []	202848	\N	\N	EFO	1	EFO	myeloid leukocyte	myeloid suppressor cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000889	"" []	555782	\N	\N	EFO	2	EFO	leukocyte	myeloid suppressor cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000889	"" []	555783	\N	\N	EFO	2	EFO	leukocyte	myeloid suppressor cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000889	"" []	555784	\N	\N	EFO	2	EFO	myeloid cell	myeloid suppressor cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000889	"" []	1138443	\N	\N	EFO	3	EFO	hematopoietic cell	myeloid suppressor cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000889	"" []	1138444	\N	\N	EFO	3	EFO	hematopoietic cell	myeloid suppressor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000889	"" []	1138445	\N	\N	EFO	3	EFO	hematopoietic cell	myeloid suppressor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000889	"" []	2021505	\N	\N	EFO	4	EFO	cell type	myeloid suppressor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000889	"" []	2021506	\N	\N	EFO	4	EFO	somatic cell	myeloid suppressor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000889	"" []	3176129	\N	\N	EFO	5	EFO	material entity	myeloid suppressor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000889	"" []	4386848	\N	\N	EFO	6	EFO	experimental factor	myeloid suppressor cell
CL:0000890	\N	\N	"" []	CL:0000890	"" []	63132	\N	\N	EFO	0	EFO	alternatively activated macrophage	alternatively activated macrophage
CL:0000861	CL:0000890	\N	"" []	CL:0000890	"" []	202849	\N	\N	EFO	1	EFO	elicited macrophage	alternatively activated macrophage
CL:0000861	CL:0000890	\N	"" []	CL:0000890	"" []	202850	\N	\N	EFO	1	EFO	elicited macrophage	alternatively activated macrophage
CL:0000235	CL:0000861	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000890	"" []	555785	\N	\N	EFO	2	EFO	macrophage	alternatively activated macrophage
CL:0000235	CL:0000861	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0000890	"" []	555786	\N	\N	EFO	2	EFO	macrophage	alternatively activated macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000890	"" []	1138446	\N	\N	EFO	3	EFO	myeloid leukocyte	alternatively activated macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0000890	"" []	1138447	\N	\N	EFO	3	EFO	myeloid leukocyte	alternatively activated macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000890	"" []	2021507	\N	\N	EFO	4	EFO	leukocyte	alternatively activated macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000890	"" []	2021508	\N	\N	EFO	4	EFO	leukocyte	alternatively activated macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000890	"" []	2021509	\N	\N	EFO	4	EFO	myeloid cell	alternatively activated macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000890	"" []	3176130	\N	\N	EFO	5	EFO	hematopoietic cell	alternatively activated macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000890	"" []	3176131	\N	\N	EFO	5	EFO	hematopoietic cell	alternatively activated macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000890	"" []	3176132	\N	\N	EFO	5	EFO	hematopoietic cell	alternatively activated macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000890	"" []	4386849	\N	\N	EFO	6	EFO	cell type	alternatively activated macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000890	"" []	4386850	\N	\N	EFO	6	EFO	somatic cell	alternatively activated macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000890	"" []	5407973	\N	\N	EFO	7	EFO	material entity	alternatively activated macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000890	"" []	6146955	\N	\N	EFO	8	EFO	experimental factor	alternatively activated macrophage
CL:0000893	\N	\N	"An immature T cell located in the thymus." []	CL:0000893	"An immature T cell located in the thymus." []	63133	\N	\N	EFO	0	EFO	thymocyte	thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000893	"An immature T cell located in the thymus." []	202851	\N	\N	EFO	1	EFO	immature T cell	thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0000893	"An immature T cell located in the thymus." []	202852	\N	\N	EFO	1	EFO	immature T cell	thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000893	"An immature T cell located in the thymus." []	555787	\N	\N	EFO	2	EFO	T cell	thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000893	"An immature T cell located in the thymus." []	555788	\N	\N	EFO	2	EFO	T cell	thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000893	"An immature T cell located in the thymus." []	1138448	\N	\N	EFO	3	EFO	lymphocyte	thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000893	"An immature T cell located in the thymus." []	1138449	\N	\N	EFO	3	EFO	lymphocyte	thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000893	"An immature T cell located in the thymus." []	2021510	\N	\N	EFO	4	EFO	leukocyte	thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0000893	"An immature T cell located in the thymus." []	2021511	\N	\N	EFO	4	EFO	nongranular leukocyte	thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000893	"An immature T cell located in the thymus." []	3176133	\N	\N	EFO	5	EFO	hematopoietic cell	thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000893	"An immature T cell located in the thymus." []	3176134	\N	\N	EFO	5	EFO	leukocyte	thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000893	"An immature T cell located in the thymus." []	4386851	\N	\N	EFO	6	EFO	cell type	thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000893	"An immature T cell located in the thymus." []	4386852	\N	\N	EFO	6	EFO	hematopoietic cell	thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000893	"An immature T cell located in the thymus." []	5407974	\N	\N	EFO	7	EFO	material entity	thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000893	"An immature T cell located in the thymus." []	5407975	\N	\N	EFO	7	EFO	somatic cell	thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000893	"An immature T cell located in the thymus." []	6146956	\N	\N	EFO	8	EFO	experimental factor	thymocyte
CL:0000894	\N	\N	"" []	CL:0000894	"" []	63134	\N	\N	EFO	0	EFO	DN1 thymic pro-T cell	DN1 thymic pro-T cell
CL:0000827	CL:0000894	\N	"" []	CL:0000894	"" []	202853	\N	\N	EFO	1	EFO	pro-T cell	DN1 thymic pro-T cell
CL:0000827	CL:0000894	\N	"" []	CL:0000894	"" []	202854	\N	\N	EFO	1	EFO	pro-T cell	DN1 thymic pro-T cell
CL:0000838	CL:0000827	\N	"" []	CL:0000894	"" []	555789	\N	\N	EFO	2	EFO	lymphoid lineage restricted progenitor cell	DN1 thymic pro-T cell
CL:0000838	CL:0000827	\N	"" []	CL:0000894	"" []	555790	\N	\N	EFO	2	EFO	lymphoid lineage restricted progenitor cell	DN1 thymic pro-T cell
CL:0002031	CL:0000838	\N	"" []	CL:0000894	"" []	1138450	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	DN1 thymic pro-T cell
CL:0002031	CL:0000838	\N	"" []	CL:0000894	"" []	1138451	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	DN1 thymic pro-T cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0000894	"" []	2021512	\N	\N	EFO	4	EFO	hematopoietic cell	DN1 thymic pro-T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000894	"" []	3176135	\N	\N	EFO	5	EFO	cell type	DN1 thymic pro-T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000894	"" []	4386853	\N	\N	EFO	6	EFO	material entity	DN1 thymic pro-T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000894	"" []	5407976	\N	\N	EFO	7	EFO	experimental factor	DN1 thymic pro-T cell
CL:0000895	\N	\N	"" []	CL:0000895	"" []	63135	\N	\N	EFO	0	EFO	naive thymus-derived CD4-positive, alpha-beta T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000624	CL:0000895	\N	"" []	CL:0000895	"" []	202855	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000624	CL:0000895	\N	"" []	CL:0000895	"" []	202856	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000898	CL:0000895	\N	"" []	CL:0000895	"" []	202857	\N	\N	EFO	1	EFO	naive T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000895	"" []	555791	\N	\N	EFO	2	EFO	mature alpha-beta T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000895	"" []	555792	\N	\N	EFO	2	EFO	mature alpha-beta T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0002419	CL:0000898	\N	"" []	CL:0000895	"" []	555793	\N	\N	EFO	2	EFO	mature T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000895	"" []	1138452	\N	\N	EFO	3	EFO	alpha-beta T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000895	"" []	1138453	\N	\N	EFO	3	EFO	alpha-beta T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000895	"" []	1138454	\N	\N	EFO	3	EFO	mature T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000895	"" []	2021515	\N	\N	EFO	4	EFO	T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000895	"" []	2021513	\N	\N	EFO	4	EFO	T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000895	"" []	2021514	\N	\N	EFO	4	EFO	T cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000895	"" []	2999178	\N	\N	EFO	5	EFO	lymphocyte	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000895	"" []	3176136	\N	\N	EFO	5	EFO	lymphocyte	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000895	"" []	4132415	\N	\N	EFO	6	EFO	nongranular leukocyte	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000895	"" []	4386854	\N	\N	EFO	6	EFO	leukocyte	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000895	"" []	5180804	\N	\N	EFO	7	EFO	leukocyte	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000895	"" []	5407977	\N	\N	EFO	7	EFO	hematopoietic cell	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000895	"" []	5996489	\N	\N	EFO	8	EFO	hematopoietic cell	naive thymus-derived CD4-positive, alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000895	"" []	6146957	\N	\N	EFO	8	EFO	cell type	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000895	"" []	6550317	\N	\N	EFO	9	EFO	somatic cell	naive thymus-derived CD4-positive, alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000895	"" []	6631538	\N	\N	EFO	9	EFO	material entity	naive thymus-derived CD4-positive, alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000895	"" []	6925146	\N	\N	EFO	10	EFO	experimental factor	naive thymus-derived CD4-positive, alpha-beta T cell
CL:0000896	\N	\N	"" []	CL:0000896	"" []	63136	\N	\N	EFO	0	EFO	activated CD4-positive, alpha-beta T cell	activated CD4-positive, alpha-beta T cell
CL:0000624	CL:0000896	\N	"" []	CL:0000896	"" []	202858	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	activated CD4-positive, alpha-beta T cell
CL:0000624	CL:0000896	\N	"" []	CL:0000896	"" []	202859	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	activated CD4-positive, alpha-beta T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000896	"" []	555794	\N	\N	EFO	2	EFO	mature alpha-beta T cell	activated CD4-positive, alpha-beta T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000896	"" []	555795	\N	\N	EFO	2	EFO	mature alpha-beta T cell	activated CD4-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000896	"" []	1138456	\N	\N	EFO	3	EFO	alpha-beta T cell	activated CD4-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000896	"" []	1138457	\N	\N	EFO	3	EFO	alpha-beta T cell	activated CD4-positive, alpha-beta T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000896	"" []	1138458	\N	\N	EFO	3	EFO	mature T cell	activated CD4-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000896	"" []	2021517	\N	\N	EFO	4	EFO	T cell	activated CD4-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000896	"" []	2021518	\N	\N	EFO	4	EFO	T cell	activated CD4-positive, alpha-beta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000896	"" []	2021519	\N	\N	EFO	4	EFO	T cell	activated CD4-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000896	"" []	3176138	\N	\N	EFO	5	EFO	lymphocyte	activated CD4-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000896	"" []	3176139	\N	\N	EFO	5	EFO	lymphocyte	activated CD4-positive, alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000896	"" []	4386856	\N	\N	EFO	6	EFO	leukocyte	activated CD4-positive, alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000896	"" []	4386857	\N	\N	EFO	6	EFO	nongranular leukocyte	activated CD4-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000896	"" []	5407979	\N	\N	EFO	7	EFO	hematopoietic cell	activated CD4-positive, alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000896	"" []	5407980	\N	\N	EFO	7	EFO	leukocyte	activated CD4-positive, alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000896	"" []	6146959	\N	\N	EFO	8	EFO	cell type	activated CD4-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000896	"" []	6146960	\N	\N	EFO	8	EFO	hematopoietic cell	activated CD4-positive, alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000896	"" []	6631539	\N	\N	EFO	9	EFO	material entity	activated CD4-positive, alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000896	"" []	6631540	\N	\N	EFO	9	EFO	somatic cell	activated CD4-positive, alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000896	"" []	6925147	\N	\N	EFO	10	EFO	experimental factor	activated CD4-positive, alpha-beta T cell
CL:0000897	\N	\N	"" []	CL:0000897	"" []	63137	\N	\N	EFO	0	EFO	CD4-positive, alpha-beta memory T cell	CD4-positive, alpha-beta memory T cell
CL:0000624	CL:0000897	\N	"" []	CL:0000897	"" []	202860	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	CD4-positive, alpha-beta memory T cell
CL:0000624	CL:0000897	\N	"" []	CL:0000897	"" []	202861	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	CD4-positive, alpha-beta memory T cell
CL:0000813	CL:0000897	\N	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	CL:0000897	"" []	202862	\N	\N	EFO	1	EFO	memory T cell	CD4-positive, alpha-beta memory T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000897	"" []	555796	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-positive, alpha-beta memory T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000897	"" []	555797	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-positive, alpha-beta memory T cell
CL:0002419	CL:0000813	\N	"" []	CL:0000897	"" []	555798	\N	\N	EFO	2	EFO	mature T cell	CD4-positive, alpha-beta memory T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000897	"" []	1138459	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-positive, alpha-beta memory T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000897	"" []	1138460	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-positive, alpha-beta memory T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000897	"" []	1138461	\N	\N	EFO	3	EFO	mature T cell	CD4-positive, alpha-beta memory T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000897	"" []	2021522	\N	\N	EFO	4	EFO	T cell	CD4-positive, alpha-beta memory T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000897	"" []	2021520	\N	\N	EFO	4	EFO	T cell	CD4-positive, alpha-beta memory T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000897	"" []	2021521	\N	\N	EFO	4	EFO	T cell	CD4-positive, alpha-beta memory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000897	"" []	2999179	\N	\N	EFO	5	EFO	lymphocyte	CD4-positive, alpha-beta memory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000897	"" []	3176140	\N	\N	EFO	5	EFO	lymphocyte	CD4-positive, alpha-beta memory T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000897	"" []	4132416	\N	\N	EFO	6	EFO	nongranular leukocyte	CD4-positive, alpha-beta memory T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000897	"" []	4386858	\N	\N	EFO	6	EFO	leukocyte	CD4-positive, alpha-beta memory T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000897	"" []	5180805	\N	\N	EFO	7	EFO	leukocyte	CD4-positive, alpha-beta memory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000897	"" []	5407981	\N	\N	EFO	7	EFO	hematopoietic cell	CD4-positive, alpha-beta memory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000897	"" []	5996490	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-positive, alpha-beta memory T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000897	"" []	6146961	\N	\N	EFO	8	EFO	cell type	CD4-positive, alpha-beta memory T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000897	"" []	6550318	\N	\N	EFO	9	EFO	somatic cell	CD4-positive, alpha-beta memory T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000897	"" []	6631541	\N	\N	EFO	9	EFO	material entity	CD4-positive, alpha-beta memory T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000897	"" []	6925148	\N	\N	EFO	10	EFO	experimental factor	CD4-positive, alpha-beta memory T cell
CL:0000898	\N	\N	"" []	CL:0000898	"" []	63138	\N	\N	EFO	0	EFO	naive T cell	naive T cell
CL:0002419	CL:0000898	\N	"" []	CL:0000898	"" []	202863	\N	\N	EFO	1	EFO	mature T cell	naive T cell
CL:0002419	CL:0000898	\N	"" []	CL:0000898	"" []	202864	\N	\N	EFO	1	EFO	mature T cell	naive T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000898	"" []	555799	\N	\N	EFO	2	EFO	T cell	naive T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000898	"" []	555800	\N	\N	EFO	2	EFO	T cell	naive T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000898	"" []	1138463	\N	\N	EFO	3	EFO	lymphocyte	naive T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000898	"" []	1138464	\N	\N	EFO	3	EFO	lymphocyte	naive T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000898	"" []	2021524	\N	\N	EFO	4	EFO	leukocyte	naive T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000898	"" []	2021525	\N	\N	EFO	4	EFO	nongranular leukocyte	naive T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000898	"" []	3176142	\N	\N	EFO	5	EFO	hematopoietic cell	naive T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000898	"" []	3176143	\N	\N	EFO	5	EFO	leukocyte	naive T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000898	"" []	4386860	\N	\N	EFO	6	EFO	cell type	naive T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000898	"" []	4386861	\N	\N	EFO	6	EFO	hematopoietic cell	naive T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000898	"" []	5407983	\N	\N	EFO	7	EFO	material entity	naive T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000898	"" []	5407984	\N	\N	EFO	7	EFO	somatic cell	naive T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000898	"" []	6146963	\N	\N	EFO	8	EFO	experimental factor	naive T cell
CL:0000899	\N	\N	"" []	CL:0000899	"" []	63139	\N	\N	EFO	0	EFO	T-helper 17 cell	T-helper 17 cell
CL:0000492	CL:0000899	\N	"" []	CL:0000899	"" []	202865	\N	\N	EFO	1	EFO	CD4-positive helper T cell	T-helper 17 cell
CL:0000492	CL:0000899	\N	"" []	CL:0000899	"" []	202866	\N	\N	EFO	1	EFO	CD4-positive helper T cell	T-helper 17 cell
CL:0000624	CL:0000492	\N	"" []	CL:0000899	"" []	555801	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	T-helper 17 cell
CL:0000624	CL:0000492	\N	"" []	CL:0000899	"" []	555802	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	T-helper 17 cell
CL:0000912	CL:0000492	\N	"" []	CL:0000899	"" []	555803	\N	\N	EFO	2	EFO	helper T cell	T-helper 17 cell
CL:0000791	CL:0000624	\N	"" []	CL:0000899	"" []	1138465	\N	\N	EFO	3	EFO	mature alpha-beta T cell	T-helper 17 cell
CL:0000791	CL:0000624	\N	"" []	CL:0000899	"" []	1138466	\N	\N	EFO	3	EFO	mature alpha-beta T cell	T-helper 17 cell
CL:0000911	CL:0000912	\N	"" []	CL:0000899	"" []	1138467	\N	\N	EFO	3	EFO	effector T cell	T-helper 17 cell
CL:0000789	CL:0000791	\N	"" []	CL:0000899	"" []	2021526	\N	\N	EFO	4	EFO	alpha-beta T cell	T-helper 17 cell
CL:0000789	CL:0000791	\N	"" []	CL:0000899	"" []	2021527	\N	\N	EFO	4	EFO	alpha-beta T cell	T-helper 17 cell
CL:0002419	CL:0000791	\N	"" []	CL:0000899	"" []	2021528	\N	\N	EFO	4	EFO	mature T cell	T-helper 17 cell
CL:0002419	CL:0000911	\N	"" []	CL:0000899	"" []	2021529	\N	\N	EFO	4	EFO	mature T cell	T-helper 17 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000899	"" []	3176144	\N	\N	EFO	5	EFO	T cell	T-helper 17 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000899	"" []	3176145	\N	\N	EFO	5	EFO	T cell	T-helper 17 cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000899	"" []	3176146	\N	\N	EFO	5	EFO	T cell	T-helper 17 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000899	"" []	4386862	\N	\N	EFO	6	EFO	lymphocyte	T-helper 17 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000899	"" []	4386863	\N	\N	EFO	6	EFO	lymphocyte	T-helper 17 cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000899	"" []	5407985	\N	\N	EFO	7	EFO	leukocyte	T-helper 17 cell
CL:0002087	CL:0000542	\N	"" []	CL:0000899	"" []	5407986	\N	\N	EFO	7	EFO	nongranular leukocyte	T-helper 17 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000899	"" []	6146964	\N	\N	EFO	8	EFO	hematopoietic cell	T-helper 17 cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000899	"" []	6146965	\N	\N	EFO	8	EFO	leukocyte	T-helper 17 cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000899	"" []	6631542	\N	\N	EFO	9	EFO	cell type	T-helper 17 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000899	"" []	6631543	\N	\N	EFO	9	EFO	hematopoietic cell	T-helper 17 cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000899	"" []	6925149	\N	\N	EFO	10	EFO	material entity	T-helper 17 cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000899	"" []	6925150	\N	\N	EFO	10	EFO	somatic cell	T-helper 17 cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000899	"" []	7098917	\N	\N	EFO	11	EFO	experimental factor	T-helper 17 cell
CL:0000900	\N	\N	"" []	CL:0000900	"" []	63140	\N	\N	EFO	0	EFO	naive thymus-derived CD8-positive, alpha-beta T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000625	CL:0000900	\N	"" []	CL:0000900	"" []	202867	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000625	CL:0000900	\N	"" []	CL:0000900	"" []	202868	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000898	CL:0000900	\N	"" []	CL:0000900	"" []	202869	\N	\N	EFO	1	EFO	naive T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000900	"" []	555804	\N	\N	EFO	2	EFO	mature alpha-beta T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000900	"" []	555805	\N	\N	EFO	2	EFO	mature alpha-beta T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0002419	CL:0000898	\N	"" []	CL:0000900	"" []	555806	\N	\N	EFO	2	EFO	mature T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000900	"" []	1138468	\N	\N	EFO	3	EFO	alpha-beta T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000900	"" []	1138469	\N	\N	EFO	3	EFO	alpha-beta T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000900	"" []	1138470	\N	\N	EFO	3	EFO	mature T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000900	"" []	2021532	\N	\N	EFO	4	EFO	T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000900	"" []	2021530	\N	\N	EFO	4	EFO	T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000900	"" []	2021531	\N	\N	EFO	4	EFO	T cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000900	"" []	2999180	\N	\N	EFO	5	EFO	lymphocyte	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000900	"" []	3176147	\N	\N	EFO	5	EFO	lymphocyte	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000900	"" []	4132417	\N	\N	EFO	6	EFO	nongranular leukocyte	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000900	"" []	4386864	\N	\N	EFO	6	EFO	leukocyte	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000900	"" []	5180806	\N	\N	EFO	7	EFO	leukocyte	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000900	"" []	5407987	\N	\N	EFO	7	EFO	hematopoietic cell	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000900	"" []	5996491	\N	\N	EFO	8	EFO	hematopoietic cell	naive thymus-derived CD8-positive, alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000900	"" []	6146966	\N	\N	EFO	8	EFO	cell type	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000900	"" []	6550319	\N	\N	EFO	9	EFO	somatic cell	naive thymus-derived CD8-positive, alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000900	"" []	6631544	\N	\N	EFO	9	EFO	material entity	naive thymus-derived CD8-positive, alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000900	"" []	6925151	\N	\N	EFO	10	EFO	experimental factor	naive thymus-derived CD8-positive, alpha-beta T cell
CL:0000901	\N	\N	"" []	CL:0000901	"" []	63141	\N	\N	EFO	0	EFO	Tr1 cell	Tr1 cell
CL:0000492	CL:0000901	\N	"" []	CL:0000901	"" []	202870	\N	\N	EFO	1	EFO	CD4-positive helper T cell	Tr1 cell
CL:0000624	CL:0000901	\N	"" []	CL:0000901	"" []	202871	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	Tr1 cell
CL:0000815	CL:0000901	\N	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	CL:0000901	"" []	202872	\N	\N	EFO	1	EFO	regulatory T cell	Tr1 cell
CL:0000624	CL:0000492	\N	"" []	CL:0000901	"" []	555807	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	Tr1 cell
CL:0000912	CL:0000492	\N	"" []	CL:0000901	"" []	555808	\N	\N	EFO	2	EFO	helper T cell	Tr1 cell
CL:0000791	CL:0000624	\N	"" []	CL:0000901	"" []	555809	\N	\N	EFO	2	EFO	mature alpha-beta T cell	Tr1 cell
CL:0002419	CL:0000815	\N	"" []	CL:0000901	"" []	555810	\N	\N	EFO	2	EFO	mature T cell	Tr1 cell
CL:0000791	CL:0000624	\N	"" []	CL:0000901	"" []	1138472	\N	\N	EFO	3	EFO	mature alpha-beta T cell	Tr1 cell
CL:0000911	CL:0000912	\N	"" []	CL:0000901	"" []	1138473	\N	\N	EFO	3	EFO	effector T cell	Tr1 cell
CL:0000789	CL:0000791	\N	"" []	CL:0000901	"" []	1138474	\N	\N	EFO	3	EFO	alpha-beta T cell	Tr1 cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000901	"" []	3176150	\N	\N	EFO	5	EFO	T cell	Tr1 cell
CL:0000789	CL:0000791	\N	"" []	CL:0000901	"" []	2021534	\N	\N	EFO	4	EFO	alpha-beta T cell	Tr1 cell
CL:0002419	CL:0000791	\N	"" []	CL:0000901	"" []	2021535	\N	\N	EFO	4	EFO	mature T cell	Tr1 cell
CL:0002419	CL:0000911	\N	"" []	CL:0000901	"" []	2021536	\N	\N	EFO	4	EFO	mature T cell	Tr1 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000901	"" []	2021537	\N	\N	EFO	4	EFO	T cell	Tr1 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000901	"" []	4066651	\N	\N	EFO	6	EFO	lymphocyte	Tr1 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000901	"" []	3176149	\N	\N	EFO	5	EFO	T cell	Tr1 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000901	"" []	3176151	\N	\N	EFO	5	EFO	lymphocyte	Tr1 cell
CL:0002087	CL:0000542	\N	"" []	CL:0000901	"" []	5059262	\N	\N	EFO	7	EFO	nongranular leukocyte	Tr1 cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000901	"" []	4386866	\N	\N	EFO	6	EFO	leukocyte	Tr1 cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000901	"" []	5876482	\N	\N	EFO	8	EFO	leukocyte	Tr1 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000901	"" []	5407989	\N	\N	EFO	7	EFO	hematopoietic cell	Tr1 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000901	"" []	6469785	\N	\N	EFO	9	EFO	hematopoietic cell	Tr1 cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000901	"" []	6146968	\N	\N	EFO	8	EFO	cell type	Tr1 cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000901	"" []	6848191	\N	\N	EFO	10	EFO	somatic cell	Tr1 cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000901	"" []	6631545	\N	\N	EFO	9	EFO	material entity	Tr1 cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000901	"" []	6925152	\N	\N	EFO	10	EFO	experimental factor	Tr1 cell
CL:0000902	\N	\N	"" []	CL:0000902	"" []	63142	\N	\N	EFO	0	EFO	induced T-regulatory cell	induced T-regulatory cell
CL:0000792	CL:0000902	\N	"" []	CL:0000902	"" []	202873	\N	\N	EFO	1	EFO	CD4-positive, CD25-positive, alpha-beta regulatory T cell	induced T-regulatory cell
CL:0000792	CL:0000902	\N	"" []	CL:0000902	"" []	202874	\N	\N	EFO	1	EFO	CD4-positive, CD25-positive, alpha-beta regulatory T cell	induced T-regulatory cell
CL:0000624	CL:0000792	\N	"" []	CL:0000902	"" []	555811	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	induced T-regulatory cell
CL:0000624	CL:0000792	\N	"" []	CL:0000902	"" []	555812	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	induced T-regulatory cell
CL:0000815	CL:0000792	\N	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	CL:0000902	"" []	555813	\N	\N	EFO	2	EFO	regulatory T cell	induced T-regulatory cell
CL:0000791	CL:0000624	\N	"" []	CL:0000902	"" []	1138476	\N	\N	EFO	3	EFO	mature alpha-beta T cell	induced T-regulatory cell
CL:0000791	CL:0000624	\N	"" []	CL:0000902	"" []	1138477	\N	\N	EFO	3	EFO	mature alpha-beta T cell	induced T-regulatory cell
CL:0002419	CL:0000815	\N	"" []	CL:0000902	"" []	1138478	\N	\N	EFO	3	EFO	mature T cell	induced T-regulatory cell
CL:0000789	CL:0000791	\N	"" []	CL:0000902	"" []	2021539	\N	\N	EFO	4	EFO	alpha-beta T cell	induced T-regulatory cell
CL:0000789	CL:0000791	\N	"" []	CL:0000902	"" []	2021540	\N	\N	EFO	4	EFO	alpha-beta T cell	induced T-regulatory cell
CL:0002419	CL:0000791	\N	"" []	CL:0000902	"" []	2021541	\N	\N	EFO	4	EFO	mature T cell	induced T-regulatory cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000902	"" []	3176155	\N	\N	EFO	5	EFO	T cell	induced T-regulatory cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000902	"" []	3176153	\N	\N	EFO	5	EFO	T cell	induced T-regulatory cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000902	"" []	3176154	\N	\N	EFO	5	EFO	T cell	induced T-regulatory cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000902	"" []	4132418	\N	\N	EFO	6	EFO	lymphocyte	induced T-regulatory cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000902	"" []	4386868	\N	\N	EFO	6	EFO	lymphocyte	induced T-regulatory cell
CL:0002087	CL:0000542	\N	"" []	CL:0000902	"" []	5180807	\N	\N	EFO	7	EFO	nongranular leukocyte	induced T-regulatory cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000902	"" []	5407991	\N	\N	EFO	7	EFO	leukocyte	induced T-regulatory cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000902	"" []	5996492	\N	\N	EFO	8	EFO	leukocyte	induced T-regulatory cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000902	"" []	6146970	\N	\N	EFO	8	EFO	hematopoietic cell	induced T-regulatory cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000902	"" []	6550320	\N	\N	EFO	9	EFO	hematopoietic cell	induced T-regulatory cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000902	"" []	6631546	\N	\N	EFO	9	EFO	cell type	induced T-regulatory cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000902	"" []	6888958	\N	\N	EFO	10	EFO	somatic cell	induced T-regulatory cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000902	"" []	6925153	\N	\N	EFO	10	EFO	material entity	induced T-regulatory cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000902	"" []	7098918	\N	\N	EFO	11	EFO	experimental factor	induced T-regulatory cell
CL:0000903	\N	\N	"" []	CL:0000903	"" []	63143	\N	\N	EFO	0	EFO	natural T-regulatory cell	natural T-regulatory cell
CL:0000792	CL:0000903	\N	"" []	CL:0000903	"" []	202875	\N	\N	EFO	1	EFO	CD4-positive, CD25-positive, alpha-beta regulatory T cell	natural T-regulatory cell
CL:0000792	CL:0000903	\N	"" []	CL:0000903	"" []	202876	\N	\N	EFO	1	EFO	CD4-positive, CD25-positive, alpha-beta regulatory T cell	natural T-regulatory cell
CL:0000624	CL:0000792	\N	"" []	CL:0000903	"" []	555814	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	natural T-regulatory cell
CL:0000624	CL:0000792	\N	"" []	CL:0000903	"" []	555815	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	natural T-regulatory cell
CL:0000815	CL:0000792	\N	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	CL:0000903	"" []	555816	\N	\N	EFO	2	EFO	regulatory T cell	natural T-regulatory cell
CL:0000791	CL:0000624	\N	"" []	CL:0000903	"" []	1138479	\N	\N	EFO	3	EFO	mature alpha-beta T cell	natural T-regulatory cell
CL:0000791	CL:0000624	\N	"" []	CL:0000903	"" []	1138480	\N	\N	EFO	3	EFO	mature alpha-beta T cell	natural T-regulatory cell
CL:0002419	CL:0000815	\N	"" []	CL:0000903	"" []	1138481	\N	\N	EFO	3	EFO	mature T cell	natural T-regulatory cell
CL:0000789	CL:0000791	\N	"" []	CL:0000903	"" []	2021543	\N	\N	EFO	4	EFO	alpha-beta T cell	natural T-regulatory cell
CL:0000789	CL:0000791	\N	"" []	CL:0000903	"" []	2021544	\N	\N	EFO	4	EFO	alpha-beta T cell	natural T-regulatory cell
CL:0002419	CL:0000791	\N	"" []	CL:0000903	"" []	2021545	\N	\N	EFO	4	EFO	mature T cell	natural T-regulatory cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000903	"" []	3176159	\N	\N	EFO	5	EFO	T cell	natural T-regulatory cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000903	"" []	3176157	\N	\N	EFO	5	EFO	T cell	natural T-regulatory cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000903	"" []	3176158	\N	\N	EFO	5	EFO	T cell	natural T-regulatory cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000903	"" []	4132419	\N	\N	EFO	6	EFO	lymphocyte	natural T-regulatory cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000903	"" []	4386870	\N	\N	EFO	6	EFO	lymphocyte	natural T-regulatory cell
CL:0002087	CL:0000542	\N	"" []	CL:0000903	"" []	5180808	\N	\N	EFO	7	EFO	nongranular leukocyte	natural T-regulatory cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000903	"" []	5407993	\N	\N	EFO	7	EFO	leukocyte	natural T-regulatory cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000903	"" []	5996493	\N	\N	EFO	8	EFO	leukocyte	natural T-regulatory cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000903	"" []	6146972	\N	\N	EFO	8	EFO	hematopoietic cell	natural T-regulatory cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000903	"" []	6550321	\N	\N	EFO	9	EFO	hematopoietic cell	natural T-regulatory cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000903	"" []	6631548	\N	\N	EFO	9	EFO	cell type	natural T-regulatory cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000903	"" []	6888959	\N	\N	EFO	10	EFO	somatic cell	natural T-regulatory cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000903	"" []	6925154	\N	\N	EFO	10	EFO	material entity	natural T-regulatory cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000903	"" []	7098919	\N	\N	EFO	11	EFO	experimental factor	natural T-regulatory cell
CL:0000904	\N	\N	"" []	CL:0000904	"" []	63144	\N	\N	EFO	0	EFO	central memory CD4-positive, alpha-beta T cell	central memory CD4-positive, alpha-beta T cell
CL:0000897	CL:0000904	\N	"" []	CL:0000904	"" []	202877	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta memory T cell	central memory CD4-positive, alpha-beta T cell
CL:0000897	CL:0000904	\N	"" []	CL:0000904	"" []	202878	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta memory T cell	central memory CD4-positive, alpha-beta T cell
CL:0000624	CL:0000897	\N	"" []	CL:0000904	"" []	555817	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	central memory CD4-positive, alpha-beta T cell
CL:0000624	CL:0000897	\N	"" []	CL:0000904	"" []	555818	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	central memory CD4-positive, alpha-beta T cell
CL:0000813	CL:0000897	\N	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	CL:0000904	"" []	555819	\N	\N	EFO	2	EFO	memory T cell	central memory CD4-positive, alpha-beta T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000904	"" []	1138482	\N	\N	EFO	3	EFO	mature alpha-beta T cell	central memory CD4-positive, alpha-beta T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000904	"" []	1138483	\N	\N	EFO	3	EFO	mature alpha-beta T cell	central memory CD4-positive, alpha-beta T cell
CL:0002419	CL:0000813	\N	"" []	CL:0000904	"" []	1138484	\N	\N	EFO	3	EFO	mature T cell	central memory CD4-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000904	"" []	2021547	\N	\N	EFO	4	EFO	alpha-beta T cell	central memory CD4-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000904	"" []	2021548	\N	\N	EFO	4	EFO	alpha-beta T cell	central memory CD4-positive, alpha-beta T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000904	"" []	2021549	\N	\N	EFO	4	EFO	mature T cell	central memory CD4-positive, alpha-beta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000904	"" []	3176163	\N	\N	EFO	5	EFO	T cell	central memory CD4-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000904	"" []	3176161	\N	\N	EFO	5	EFO	T cell	central memory CD4-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000904	"" []	3176162	\N	\N	EFO	5	EFO	T cell	central memory CD4-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000904	"" []	4132420	\N	\N	EFO	6	EFO	lymphocyte	central memory CD4-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000904	"" []	4386872	\N	\N	EFO	6	EFO	lymphocyte	central memory CD4-positive, alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000904	"" []	5180809	\N	\N	EFO	7	EFO	nongranular leukocyte	central memory CD4-positive, alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000904	"" []	5407995	\N	\N	EFO	7	EFO	leukocyte	central memory CD4-positive, alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000904	"" []	5996494	\N	\N	EFO	8	EFO	leukocyte	central memory CD4-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000904	"" []	6146974	\N	\N	EFO	8	EFO	hematopoietic cell	central memory CD4-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000904	"" []	6550322	\N	\N	EFO	9	EFO	hematopoietic cell	central memory CD4-positive, alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000904	"" []	6631550	\N	\N	EFO	9	EFO	cell type	central memory CD4-positive, alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000904	"" []	6888960	\N	\N	EFO	10	EFO	somatic cell	central memory CD4-positive, alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000904	"" []	6925155	\N	\N	EFO	10	EFO	material entity	central memory CD4-positive, alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000904	"" []	7098920	\N	\N	EFO	11	EFO	experimental factor	central memory CD4-positive, alpha-beta T cell
CL:0000905	\N	\N	"" []	CL:0000905	"" []	63145	\N	\N	EFO	0	EFO	effector memory CD4-positive, alpha-beta T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000897	CL:0000905	\N	"" []	CL:0000905	"" []	202879	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta memory T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000897	CL:0000905	\N	"" []	CL:0000905	"" []	202880	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta memory T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000624	CL:0000897	\N	"" []	CL:0000905	"" []	555820	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000624	CL:0000897	\N	"" []	CL:0000905	"" []	555821	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000813	CL:0000897	\N	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	CL:0000905	"" []	555822	\N	\N	EFO	2	EFO	memory T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000905	"" []	1138485	\N	\N	EFO	3	EFO	mature alpha-beta T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000905	"" []	1138486	\N	\N	EFO	3	EFO	mature alpha-beta T cell	effector memory CD4-positive, alpha-beta T cell
CL:0002419	CL:0000813	\N	"" []	CL:0000905	"" []	1138487	\N	\N	EFO	3	EFO	mature T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000905	"" []	2021551	\N	\N	EFO	4	EFO	alpha-beta T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000905	"" []	2021552	\N	\N	EFO	4	EFO	alpha-beta T cell	effector memory CD4-positive, alpha-beta T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000905	"" []	2021553	\N	\N	EFO	4	EFO	mature T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000905	"" []	3176167	\N	\N	EFO	5	EFO	T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000905	"" []	3176165	\N	\N	EFO	5	EFO	T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000905	"" []	3176166	\N	\N	EFO	5	EFO	T cell	effector memory CD4-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000905	"" []	4132421	\N	\N	EFO	6	EFO	lymphocyte	effector memory CD4-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000905	"" []	4386874	\N	\N	EFO	6	EFO	lymphocyte	effector memory CD4-positive, alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000905	"" []	5180810	\N	\N	EFO	7	EFO	nongranular leukocyte	effector memory CD4-positive, alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000905	"" []	5407997	\N	\N	EFO	7	EFO	leukocyte	effector memory CD4-positive, alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000905	"" []	5996495	\N	\N	EFO	8	EFO	leukocyte	effector memory CD4-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000905	"" []	6146976	\N	\N	EFO	8	EFO	hematopoietic cell	effector memory CD4-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000905	"" []	6550323	\N	\N	EFO	9	EFO	hematopoietic cell	effector memory CD4-positive, alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000905	"" []	6631552	\N	\N	EFO	9	EFO	cell type	effector memory CD4-positive, alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000905	"" []	6888961	\N	\N	EFO	10	EFO	somatic cell	effector memory CD4-positive, alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000905	"" []	6925156	\N	\N	EFO	10	EFO	material entity	effector memory CD4-positive, alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000905	"" []	7098921	\N	\N	EFO	11	EFO	experimental factor	effector memory CD4-positive, alpha-beta T cell
CL:0000906	\N	\N	"" []	CL:0000906	"" []	63146	\N	\N	EFO	0	EFO	activated CD8-positive, alpha-beta T cell	activated CD8-positive, alpha-beta T cell
CL:0000625	CL:0000906	\N	"" []	CL:0000906	"" []	202881	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	activated CD8-positive, alpha-beta T cell
CL:0000625	CL:0000906	\N	"" []	CL:0000906	"" []	202882	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	activated CD8-positive, alpha-beta T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000906	"" []	555823	\N	\N	EFO	2	EFO	mature alpha-beta T cell	activated CD8-positive, alpha-beta T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000906	"" []	555824	\N	\N	EFO	2	EFO	mature alpha-beta T cell	activated CD8-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000906	"" []	1138488	\N	\N	EFO	3	EFO	alpha-beta T cell	activated CD8-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000906	"" []	1138489	\N	\N	EFO	3	EFO	alpha-beta T cell	activated CD8-positive, alpha-beta T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000906	"" []	1138490	\N	\N	EFO	3	EFO	mature T cell	activated CD8-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000906	"" []	2021555	\N	\N	EFO	4	EFO	T cell	activated CD8-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000906	"" []	2021556	\N	\N	EFO	4	EFO	T cell	activated CD8-positive, alpha-beta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000906	"" []	2021557	\N	\N	EFO	4	EFO	T cell	activated CD8-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000906	"" []	3176169	\N	\N	EFO	5	EFO	lymphocyte	activated CD8-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000906	"" []	3176170	\N	\N	EFO	5	EFO	lymphocyte	activated CD8-positive, alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000906	"" []	4386876	\N	\N	EFO	6	EFO	leukocyte	activated CD8-positive, alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000906	"" []	4386877	\N	\N	EFO	6	EFO	nongranular leukocyte	activated CD8-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000906	"" []	5407999	\N	\N	EFO	7	EFO	hematopoietic cell	activated CD8-positive, alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000906	"" []	5408000	\N	\N	EFO	7	EFO	leukocyte	activated CD8-positive, alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000906	"" []	6146978	\N	\N	EFO	8	EFO	cell type	activated CD8-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000906	"" []	6146979	\N	\N	EFO	8	EFO	hematopoietic cell	activated CD8-positive, alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000906	"" []	6631554	\N	\N	EFO	9	EFO	material entity	activated CD8-positive, alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000906	"" []	6631555	\N	\N	EFO	9	EFO	somatic cell	activated CD8-positive, alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000906	"" []	6925157	\N	\N	EFO	10	EFO	experimental factor	activated CD8-positive, alpha-beta T cell
CL:0000907	\N	\N	"" []	CL:0000907	"" []	63147	\N	\N	EFO	0	EFO	central memory CD8 positive, alpha-beta T cell	central memory CD8 positive, alpha-beta T cell
CL:0000909	CL:0000907	\N	"" []	CL:0000907	"" []	202883	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta memory T cell	central memory CD8 positive, alpha-beta T cell
CL:0000909	CL:0000907	\N	"" []	CL:0000907	"" []	202884	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta memory T cell	central memory CD8 positive, alpha-beta T cell
CL:0000625	CL:0000909	\N	"" []	CL:0000907	"" []	555825	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	central memory CD8 positive, alpha-beta T cell
CL:0000625	CL:0000909	\N	"" []	CL:0000907	"" []	555826	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	central memory CD8 positive, alpha-beta T cell
CL:0000813	CL:0000909	\N	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	CL:0000907	"" []	555827	\N	\N	EFO	2	EFO	memory T cell	central memory CD8 positive, alpha-beta T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000907	"" []	1138491	\N	\N	EFO	3	EFO	mature alpha-beta T cell	central memory CD8 positive, alpha-beta T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000907	"" []	1138492	\N	\N	EFO	3	EFO	mature alpha-beta T cell	central memory CD8 positive, alpha-beta T cell
CL:0002419	CL:0000813	\N	"" []	CL:0000907	"" []	1138493	\N	\N	EFO	3	EFO	mature T cell	central memory CD8 positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000907	"" []	2021558	\N	\N	EFO	4	EFO	alpha-beta T cell	central memory CD8 positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000907	"" []	2021559	\N	\N	EFO	4	EFO	alpha-beta T cell	central memory CD8 positive, alpha-beta T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000907	"" []	2021560	\N	\N	EFO	4	EFO	mature T cell	central memory CD8 positive, alpha-beta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000907	"" []	3176173	\N	\N	EFO	5	EFO	T cell	central memory CD8 positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000907	"" []	3176171	\N	\N	EFO	5	EFO	T cell	central memory CD8 positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000907	"" []	3176172	\N	\N	EFO	5	EFO	T cell	central memory CD8 positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000907	"" []	4132422	\N	\N	EFO	6	EFO	lymphocyte	central memory CD8 positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000907	"" []	4386878	\N	\N	EFO	6	EFO	lymphocyte	central memory CD8 positive, alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000907	"" []	5180811	\N	\N	EFO	7	EFO	nongranular leukocyte	central memory CD8 positive, alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000907	"" []	5408001	\N	\N	EFO	7	EFO	leukocyte	central memory CD8 positive, alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000907	"" []	5996496	\N	\N	EFO	8	EFO	leukocyte	central memory CD8 positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000907	"" []	6146980	\N	\N	EFO	8	EFO	hematopoietic cell	central memory CD8 positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000907	"" []	6550324	\N	\N	EFO	9	EFO	hematopoietic cell	central memory CD8 positive, alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000907	"" []	6631556	\N	\N	EFO	9	EFO	cell type	central memory CD8 positive, alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000907	"" []	6888962	\N	\N	EFO	10	EFO	somatic cell	central memory CD8 positive, alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000907	"" []	6925158	\N	\N	EFO	10	EFO	material entity	central memory CD8 positive, alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000907	"" []	7098922	\N	\N	EFO	11	EFO	experimental factor	central memory CD8 positive, alpha-beta T cell
CL:0000908	\N	\N	"" []	CL:0000908	"" []	63148	\N	\N	EFO	0	EFO	CD8-positive, alpha-beta cytokine secreting effector T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000625	CL:0000908	\N	"" []	CL:0000908	"" []	202885	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000625	CL:0000908	\N	"" []	CL:0000908	"" []	202886	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000912	CL:0000908	\N	"" []	CL:0000908	"" []	202887	\N	\N	EFO	1	EFO	helper T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000908	"" []	555828	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000908	"" []	555829	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000911	CL:0000912	\N	"" []	CL:0000908	"" []	555830	\N	\N	EFO	2	EFO	effector T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000908	"" []	1138494	\N	\N	EFO	3	EFO	alpha-beta T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000908	"" []	1138495	\N	\N	EFO	3	EFO	alpha-beta T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000908	"" []	1138496	\N	\N	EFO	3	EFO	mature T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000908	"" []	1138497	\N	\N	EFO	3	EFO	mature T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000908	"" []	2021562	\N	\N	EFO	4	EFO	T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000908	"" []	2021563	\N	\N	EFO	4	EFO	T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000908	"" []	2021564	\N	\N	EFO	4	EFO	T cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000908	"" []	3176175	\N	\N	EFO	5	EFO	lymphocyte	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000908	"" []	3176176	\N	\N	EFO	5	EFO	lymphocyte	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000908	"" []	4386880	\N	\N	EFO	6	EFO	leukocyte	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000908	"" []	4386881	\N	\N	EFO	6	EFO	nongranular leukocyte	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000908	"" []	5408003	\N	\N	EFO	7	EFO	hematopoietic cell	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000908	"" []	5408004	\N	\N	EFO	7	EFO	leukocyte	CD8-positive, alpha-beta cytokine secreting effector T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000908	"" []	6146982	\N	\N	EFO	8	EFO	cell type	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000908	"" []	6146983	\N	\N	EFO	8	EFO	hematopoietic cell	CD8-positive, alpha-beta cytokine secreting effector T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000908	"" []	6631558	\N	\N	EFO	9	EFO	material entity	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000908	"" []	6631559	\N	\N	EFO	9	EFO	somatic cell	CD8-positive, alpha-beta cytokine secreting effector T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000908	"" []	6925159	\N	\N	EFO	10	EFO	experimental factor	CD8-positive, alpha-beta cytokine secreting effector T cell
CL:0000909	\N	\N	"" []	CL:0000909	"" []	63149	\N	\N	EFO	0	EFO	CD8-positive, alpha-beta memory T cell	CD8-positive, alpha-beta memory T cell
CL:0000625	CL:0000909	\N	"" []	CL:0000909	"" []	202888	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	CD8-positive, alpha-beta memory T cell
CL:0000625	CL:0000909	\N	"" []	CL:0000909	"" []	202889	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	CD8-positive, alpha-beta memory T cell
CL:0000813	CL:0000909	\N	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	CL:0000909	"" []	202890	\N	\N	EFO	1	EFO	memory T cell	CD8-positive, alpha-beta memory T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000909	"" []	555831	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD8-positive, alpha-beta memory T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000909	"" []	555832	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD8-positive, alpha-beta memory T cell
CL:0002419	CL:0000813	\N	"" []	CL:0000909	"" []	555833	\N	\N	EFO	2	EFO	mature T cell	CD8-positive, alpha-beta memory T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000909	"" []	1138498	\N	\N	EFO	3	EFO	alpha-beta T cell	CD8-positive, alpha-beta memory T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000909	"" []	1138499	\N	\N	EFO	3	EFO	alpha-beta T cell	CD8-positive, alpha-beta memory T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000909	"" []	1138500	\N	\N	EFO	3	EFO	mature T cell	CD8-positive, alpha-beta memory T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000909	"" []	2021567	\N	\N	EFO	4	EFO	T cell	CD8-positive, alpha-beta memory T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000909	"" []	2021565	\N	\N	EFO	4	EFO	T cell	CD8-positive, alpha-beta memory T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000909	"" []	2021566	\N	\N	EFO	4	EFO	T cell	CD8-positive, alpha-beta memory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000909	"" []	2999181	\N	\N	EFO	5	EFO	lymphocyte	CD8-positive, alpha-beta memory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000909	"" []	3176177	\N	\N	EFO	5	EFO	lymphocyte	CD8-positive, alpha-beta memory T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000909	"" []	4132423	\N	\N	EFO	6	EFO	nongranular leukocyte	CD8-positive, alpha-beta memory T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000909	"" []	4386882	\N	\N	EFO	6	EFO	leukocyte	CD8-positive, alpha-beta memory T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000909	"" []	5180812	\N	\N	EFO	7	EFO	leukocyte	CD8-positive, alpha-beta memory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000909	"" []	5408005	\N	\N	EFO	7	EFO	hematopoietic cell	CD8-positive, alpha-beta memory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000909	"" []	5996497	\N	\N	EFO	8	EFO	hematopoietic cell	CD8-positive, alpha-beta memory T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000909	"" []	6146984	\N	\N	EFO	8	EFO	cell type	CD8-positive, alpha-beta memory T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000909	"" []	6550325	\N	\N	EFO	9	EFO	somatic cell	CD8-positive, alpha-beta memory T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000909	"" []	6631560	\N	\N	EFO	9	EFO	material entity	CD8-positive, alpha-beta memory T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000909	"" []	6925160	\N	\N	EFO	10	EFO	experimental factor	CD8-positive, alpha-beta memory T cell
CL:0000910	\N	\N	"" []	CL:0000910	"" []	63150	\N	\N	EFO	0	EFO	cytotoxic T cell	cytotoxic T cell
CL:0000911	CL:0000910	\N	"" []	CL:0000910	"" []	202891	\N	\N	EFO	1	EFO	effector T cell	cytotoxic T cell
CL:0000911	CL:0000910	\N	"" []	CL:0000910	"" []	202892	\N	\N	EFO	1	EFO	effector T cell	cytotoxic T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000910	"" []	555834	\N	\N	EFO	2	EFO	mature T cell	cytotoxic T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000910	"" []	555835	\N	\N	EFO	2	EFO	mature T cell	cytotoxic T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000910	"" []	1138502	\N	\N	EFO	3	EFO	T cell	cytotoxic T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000910	"" []	1138503	\N	\N	EFO	3	EFO	T cell	cytotoxic T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000910	"" []	2021569	\N	\N	EFO	4	EFO	lymphocyte	cytotoxic T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000910	"" []	2021570	\N	\N	EFO	4	EFO	lymphocyte	cytotoxic T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000910	"" []	3176179	\N	\N	EFO	5	EFO	leukocyte	cytotoxic T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000910	"" []	3176180	\N	\N	EFO	5	EFO	nongranular leukocyte	cytotoxic T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000910	"" []	4386884	\N	\N	EFO	6	EFO	hematopoietic cell	cytotoxic T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000910	"" []	4386885	\N	\N	EFO	6	EFO	leukocyte	cytotoxic T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000910	"" []	5408007	\N	\N	EFO	7	EFO	cell type	cytotoxic T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000910	"" []	5408008	\N	\N	EFO	7	EFO	hematopoietic cell	cytotoxic T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000910	"" []	6146986	\N	\N	EFO	8	EFO	material entity	cytotoxic T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000910	"" []	6146987	\N	\N	EFO	8	EFO	somatic cell	cytotoxic T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000910	"" []	6631561	\N	\N	EFO	9	EFO	experimental factor	cytotoxic T cell
CL:0000911	\N	\N	"" []	CL:0000911	"" []	63151	\N	\N	EFO	0	EFO	effector T cell	effector T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000911	"" []	202893	\N	\N	EFO	1	EFO	mature T cell	effector T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000911	"" []	202894	\N	\N	EFO	1	EFO	mature T cell	effector T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000911	"" []	555836	\N	\N	EFO	2	EFO	T cell	effector T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000911	"" []	555837	\N	\N	EFO	2	EFO	T cell	effector T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000911	"" []	1138504	\N	\N	EFO	3	EFO	lymphocyte	effector T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000911	"" []	1138505	\N	\N	EFO	3	EFO	lymphocyte	effector T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000911	"" []	2021571	\N	\N	EFO	4	EFO	leukocyte	effector T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000911	"" []	2021572	\N	\N	EFO	4	EFO	nongranular leukocyte	effector T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000911	"" []	3176181	\N	\N	EFO	5	EFO	hematopoietic cell	effector T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000911	"" []	3176182	\N	\N	EFO	5	EFO	leukocyte	effector T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000911	"" []	4386886	\N	\N	EFO	6	EFO	cell type	effector T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000911	"" []	4386887	\N	\N	EFO	6	EFO	hematopoietic cell	effector T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000911	"" []	5408009	\N	\N	EFO	7	EFO	material entity	effector T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000911	"" []	5408010	\N	\N	EFO	7	EFO	somatic cell	effector T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000911	"" []	6146988	\N	\N	EFO	8	EFO	experimental factor	effector T cell
CL:0000912	\N	\N	"" []	CL:0000912	"" []	63152	\N	\N	EFO	0	EFO	helper T cell	helper T cell
CL:0000911	CL:0000912	\N	"" []	CL:0000912	"" []	202895	\N	\N	EFO	1	EFO	effector T cell	helper T cell
CL:0000911	CL:0000912	\N	"" []	CL:0000912	"" []	202896	\N	\N	EFO	1	EFO	effector T cell	helper T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000912	"" []	555838	\N	\N	EFO	2	EFO	mature T cell	helper T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000912	"" []	555839	\N	\N	EFO	2	EFO	mature T cell	helper T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000912	"" []	1138506	\N	\N	EFO	3	EFO	T cell	helper T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000912	"" []	1138507	\N	\N	EFO	3	EFO	T cell	helper T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000912	"" []	2021573	\N	\N	EFO	4	EFO	lymphocyte	helper T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000912	"" []	2021574	\N	\N	EFO	4	EFO	lymphocyte	helper T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000912	"" []	3176183	\N	\N	EFO	5	EFO	leukocyte	helper T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000912	"" []	3176184	\N	\N	EFO	5	EFO	nongranular leukocyte	helper T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000912	"" []	4386888	\N	\N	EFO	6	EFO	hematopoietic cell	helper T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000912	"" []	4386889	\N	\N	EFO	6	EFO	leukocyte	helper T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000912	"" []	5408011	\N	\N	EFO	7	EFO	cell type	helper T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000912	"" []	5408012	\N	\N	EFO	7	EFO	hematopoietic cell	helper T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000912	"" []	6146989	\N	\N	EFO	8	EFO	material entity	helper T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000912	"" []	6146990	\N	\N	EFO	8	EFO	somatic cell	helper T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000912	"" []	6631562	\N	\N	EFO	9	EFO	experimental factor	helper T cell
CL:0000913	\N	\N	"" []	CL:0000913	"" []	63153	\N	\N	EFO	0	EFO	effector memory CD8-positive, alpha-beta T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000909	CL:0000913	\N	"" []	CL:0000913	"" []	202897	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta memory T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000909	CL:0000913	\N	"" []	CL:0000913	"" []	202898	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta memory T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000625	CL:0000909	\N	"" []	CL:0000913	"" []	555840	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000625	CL:0000909	\N	"" []	CL:0000913	"" []	555841	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000813	CL:0000909	\N	"A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time." []	CL:0000913	"" []	555842	\N	\N	EFO	2	EFO	memory T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000913	"" []	1138508	\N	\N	EFO	3	EFO	mature alpha-beta T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000913	"" []	1138509	\N	\N	EFO	3	EFO	mature alpha-beta T cell	effector memory CD8-positive, alpha-beta T cell
CL:0002419	CL:0000813	\N	"" []	CL:0000913	"" []	1138510	\N	\N	EFO	3	EFO	mature T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000913	"" []	2021575	\N	\N	EFO	4	EFO	alpha-beta T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000913	"" []	2021576	\N	\N	EFO	4	EFO	alpha-beta T cell	effector memory CD8-positive, alpha-beta T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000913	"" []	2021577	\N	\N	EFO	4	EFO	mature T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000913	"" []	3176187	\N	\N	EFO	5	EFO	T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000913	"" []	3176185	\N	\N	EFO	5	EFO	T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000913	"" []	3176186	\N	\N	EFO	5	EFO	T cell	effector memory CD8-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000913	"" []	4132424	\N	\N	EFO	6	EFO	lymphocyte	effector memory CD8-positive, alpha-beta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000913	"" []	4386890	\N	\N	EFO	6	EFO	lymphocyte	effector memory CD8-positive, alpha-beta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000913	"" []	5180813	\N	\N	EFO	7	EFO	nongranular leukocyte	effector memory CD8-positive, alpha-beta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000913	"" []	5408013	\N	\N	EFO	7	EFO	leukocyte	effector memory CD8-positive, alpha-beta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000913	"" []	5996498	\N	\N	EFO	8	EFO	leukocyte	effector memory CD8-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000913	"" []	6146991	\N	\N	EFO	8	EFO	hematopoietic cell	effector memory CD8-positive, alpha-beta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000913	"" []	6550326	\N	\N	EFO	9	EFO	hematopoietic cell	effector memory CD8-positive, alpha-beta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000913	"" []	6631563	\N	\N	EFO	9	EFO	cell type	effector memory CD8-positive, alpha-beta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000913	"" []	6888963	\N	\N	EFO	10	EFO	somatic cell	effector memory CD8-positive, alpha-beta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000913	"" []	6925161	\N	\N	EFO	10	EFO	material entity	effector memory CD8-positive, alpha-beta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000913	"" []	7098923	\N	\N	EFO	11	EFO	experimental factor	effector memory CD8-positive, alpha-beta T cell
CL:0000914	\N	\N	"" []	CL:0000914	"" []	63154	\N	\N	EFO	0	EFO	immature NK T cell	immature NK T cell
CL:0000790	CL:0000914	\N	"" []	CL:0000914	"" []	202899	\N	\N	EFO	1	EFO	immature alpha-beta T cell	immature NK T cell
CL:0000790	CL:0000914	\N	"" []	CL:0000914	"" []	202900	\N	\N	EFO	1	EFO	immature alpha-beta T cell	immature NK T cell
CL:0000789	CL:0000790	\N	"" []	CL:0000914	"" []	555843	\N	\N	EFO	2	EFO	alpha-beta T cell	immature NK T cell
CL:0000789	CL:0000790	\N	"" []	CL:0000914	"" []	555844	\N	\N	EFO	2	EFO	alpha-beta T cell	immature NK T cell
CL:0002420	CL:0000790	\N	"" []	CL:0000914	"" []	555845	\N	\N	EFO	2	EFO	immature T cell	immature NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000914	"" []	1138511	\N	\N	EFO	3	EFO	T cell	immature NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000914	"" []	1138512	\N	\N	EFO	3	EFO	T cell	immature NK T cell
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000914	"" []	1138513	\N	\N	EFO	3	EFO	T cell	immature NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000914	"" []	2021579	\N	\N	EFO	4	EFO	lymphocyte	immature NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000914	"" []	2021580	\N	\N	EFO	4	EFO	lymphocyte	immature NK T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000914	"" []	3176189	\N	\N	EFO	5	EFO	leukocyte	immature NK T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000914	"" []	3176190	\N	\N	EFO	5	EFO	nongranular leukocyte	immature NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000914	"" []	4386892	\N	\N	EFO	6	EFO	hematopoietic cell	immature NK T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000914	"" []	4386893	\N	\N	EFO	6	EFO	leukocyte	immature NK T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000914	"" []	5408015	\N	\N	EFO	7	EFO	cell type	immature NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000914	"" []	5408016	\N	\N	EFO	7	EFO	hematopoietic cell	immature NK T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000914	"" []	6146993	\N	\N	EFO	8	EFO	material entity	immature NK T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000914	"" []	6146994	\N	\N	EFO	8	EFO	somatic cell	immature NK T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000914	"" []	6631565	\N	\N	EFO	9	EFO	experimental factor	immature NK T cell
CL:0000915	\N	\N	"" []	CL:0000915	"" []	63155	\N	\N	EFO	0	EFO	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000797	CL:0000915	\N	"" []	CL:0000915	"" []	202901	\N	\N	EFO	1	EFO	alpha-beta intraepithelial T cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000797	CL:0000915	\N	"" []	CL:0000915	"" []	202902	\N	\N	EFO	1	EFO	alpha-beta intraepithelial T cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000791	CL:0000797	\N	"" []	CL:0000915	"" []	555846	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000791	CL:0000797	\N	"" []	CL:0000915	"" []	555847	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0002496	CL:0000797	\N	"" []	CL:0000915	"" []	555848	\N	\N	EFO	2	EFO	intraepithelial lymphocyte	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000915	"" []	1138514	\N	\N	EFO	3	EFO	alpha-beta T cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000915	"" []	1138515	\N	\N	EFO	3	EFO	alpha-beta T cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000915	"" []	1138516	\N	\N	EFO	3	EFO	mature T cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0002419	CL:0002496	\N	"" []	CL:0000915	"" []	1138517	\N	\N	EFO	3	EFO	mature T cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000915	"" []	2021581	\N	\N	EFO	4	EFO	T cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000915	"" []	2021582	\N	\N	EFO	4	EFO	T cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000915	"" []	2021583	\N	\N	EFO	4	EFO	T cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000915	"" []	3176191	\N	\N	EFO	5	EFO	lymphocyte	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000915	"" []	3176192	\N	\N	EFO	5	EFO	lymphocyte	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000915	"" []	4386894	\N	\N	EFO	6	EFO	leukocyte	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000915	"" []	4386895	\N	\N	EFO	6	EFO	nongranular leukocyte	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000915	"" []	5408017	\N	\N	EFO	7	EFO	hematopoietic cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000915	"" []	5408018	\N	\N	EFO	7	EFO	leukocyte	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000915	"" []	6146995	\N	\N	EFO	8	EFO	cell type	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000915	"" []	6146996	\N	\N	EFO	8	EFO	hematopoietic cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000915	"" []	6631566	\N	\N	EFO	9	EFO	material entity	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000915	"" []	6631567	\N	\N	EFO	9	EFO	somatic cell	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000915	"" []	6925162	\N	\N	EFO	10	EFO	experimental factor	CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
CL:0000916	\N	\N	"" []	CL:0000916	"" []	63156	\N	\N	EFO	0	EFO	dendritic epidermal T cell	dendritic epidermal T cell
CL:0000800	CL:0000916	\N	"" []	CL:0000916	"" []	202903	\N	\N	EFO	1	EFO	mature gamma-delta T cell	dendritic epidermal T cell
CL:0000800	CL:0000916	\N	"" []	CL:0000916	"" []	202904	\N	\N	EFO	1	EFO	mature gamma-delta T cell	dendritic epidermal T cell
CL:0000798	CL:0000800	\N	"" []	CL:0000916	"" []	555849	\N	\N	EFO	2	EFO	gamma-delta T cell	dendritic epidermal T cell
CL:0000798	CL:0000800	\N	"" []	CL:0000916	"" []	555850	\N	\N	EFO	2	EFO	gamma-delta T cell	dendritic epidermal T cell
CL:0002419	CL:0000800	\N	"" []	CL:0000916	"" []	555851	\N	\N	EFO	2	EFO	mature T cell	dendritic epidermal T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000916	"" []	1138518	\N	\N	EFO	3	EFO	T cell	dendritic epidermal T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000916	"" []	1138519	\N	\N	EFO	3	EFO	T cell	dendritic epidermal T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000916	"" []	1138520	\N	\N	EFO	3	EFO	T cell	dendritic epidermal T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000916	"" []	2021584	\N	\N	EFO	4	EFO	lymphocyte	dendritic epidermal T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000916	"" []	2021585	\N	\N	EFO	4	EFO	lymphocyte	dendritic epidermal T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000916	"" []	3176193	\N	\N	EFO	5	EFO	leukocyte	dendritic epidermal T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000916	"" []	3176194	\N	\N	EFO	5	EFO	nongranular leukocyte	dendritic epidermal T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000916	"" []	4386896	\N	\N	EFO	6	EFO	hematopoietic cell	dendritic epidermal T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000916	"" []	4386897	\N	\N	EFO	6	EFO	leukocyte	dendritic epidermal T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000916	"" []	5408019	\N	\N	EFO	7	EFO	cell type	dendritic epidermal T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000916	"" []	5408020	\N	\N	EFO	7	EFO	hematopoietic cell	dendritic epidermal T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000916	"" []	6146997	\N	\N	EFO	8	EFO	material entity	dendritic epidermal T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000916	"" []	6146998	\N	\N	EFO	8	EFO	somatic cell	dendritic epidermal T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000916	"" []	6631568	\N	\N	EFO	9	EFO	experimental factor	dendritic epidermal T cell
CL:0000917	\N	\N	"" []	CL:0000917	"" []	63157	\N	\N	EFO	0	EFO	Tc1 cell	Tc1 cell
CL:0000908	CL:0000917	\N	"" []	CL:0000917	"" []	202905	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta cytokine secreting effector T cell	Tc1 cell
CL:0000908	CL:0000917	\N	"" []	CL:0000917	"" []	202906	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta cytokine secreting effector T cell	Tc1 cell
CL:0000625	CL:0000908	\N	"" []	CL:0000917	"" []	555852	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	Tc1 cell
CL:0000625	CL:0000908	\N	"" []	CL:0000917	"" []	555853	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	Tc1 cell
CL:0000912	CL:0000908	\N	"" []	CL:0000917	"" []	555854	\N	\N	EFO	2	EFO	helper T cell	Tc1 cell
CL:0000791	CL:0000625	\N	"" []	CL:0000917	"" []	1138521	\N	\N	EFO	3	EFO	mature alpha-beta T cell	Tc1 cell
CL:0000791	CL:0000625	\N	"" []	CL:0000917	"" []	1138522	\N	\N	EFO	3	EFO	mature alpha-beta T cell	Tc1 cell
CL:0000911	CL:0000912	\N	"" []	CL:0000917	"" []	1138523	\N	\N	EFO	3	EFO	effector T cell	Tc1 cell
CL:0000789	CL:0000791	\N	"" []	CL:0000917	"" []	2021586	\N	\N	EFO	4	EFO	alpha-beta T cell	Tc1 cell
CL:0000789	CL:0000791	\N	"" []	CL:0000917	"" []	2021587	\N	\N	EFO	4	EFO	alpha-beta T cell	Tc1 cell
CL:0002419	CL:0000791	\N	"" []	CL:0000917	"" []	2021588	\N	\N	EFO	4	EFO	mature T cell	Tc1 cell
CL:0002419	CL:0000911	\N	"" []	CL:0000917	"" []	2021589	\N	\N	EFO	4	EFO	mature T cell	Tc1 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000917	"" []	3176195	\N	\N	EFO	5	EFO	T cell	Tc1 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000917	"" []	3176196	\N	\N	EFO	5	EFO	T cell	Tc1 cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000917	"" []	3176197	\N	\N	EFO	5	EFO	T cell	Tc1 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000917	"" []	4386898	\N	\N	EFO	6	EFO	lymphocyte	Tc1 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000917	"" []	4386899	\N	\N	EFO	6	EFO	lymphocyte	Tc1 cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000917	"" []	5408021	\N	\N	EFO	7	EFO	leukocyte	Tc1 cell
CL:0002087	CL:0000542	\N	"" []	CL:0000917	"" []	5408022	\N	\N	EFO	7	EFO	nongranular leukocyte	Tc1 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000917	"" []	6146999	\N	\N	EFO	8	EFO	hematopoietic cell	Tc1 cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000917	"" []	6147000	\N	\N	EFO	8	EFO	leukocyte	Tc1 cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000917	"" []	6631569	\N	\N	EFO	9	EFO	cell type	Tc1 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000917	"" []	6631570	\N	\N	EFO	9	EFO	hematopoietic cell	Tc1 cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000917	"" []	6925163	\N	\N	EFO	10	EFO	material entity	Tc1 cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000917	"" []	6925164	\N	\N	EFO	10	EFO	somatic cell	Tc1 cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000917	"" []	7098924	\N	\N	EFO	11	EFO	experimental factor	Tc1 cell
CL:0000918	\N	\N	"" []	CL:0000918	"" []	63158	\N	\N	EFO	0	EFO	Tc2 cell	Tc2 cell
CL:0001052	\N	\N	"A CD8-positive, alpha-beta T cell that has the phenotype CXCR3-negative, CCR6-negative." [GOC:add, PMID:22343568]	CL:0000918	"" []	194212	\N	\N	EFO	0	EFO	CD8-positive, CXCR3-negative, CCR6-negative, alpha-beta T cell	Tc2 cell
CL:0000908	CL:0000918	\N	"" []	CL:0000918	"" []	202907	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta cytokine secreting effector T cell	Tc2 cell
CL:0000908	CL:0000918	\N	"" []	CL:0000918	"" []	202908	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta cytokine secreting effector T cell	Tc2 cell
CL:0000625	CL:0000908	\N	"" []	CL:0000918	"" []	555855	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	Tc2 cell
CL:0000625	CL:0000908	\N	"" []	CL:0000918	"" []	555856	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	Tc2 cell
CL:0000912	CL:0000908	\N	"" []	CL:0000918	"" []	555857	\N	\N	EFO	2	EFO	helper T cell	Tc2 cell
CL:0000791	CL:0000625	\N	"" []	CL:0000918	"" []	1138524	\N	\N	EFO	3	EFO	mature alpha-beta T cell	Tc2 cell
CL:0000791	CL:0000625	\N	"" []	CL:0000918	"" []	1138525	\N	\N	EFO	3	EFO	mature alpha-beta T cell	Tc2 cell
CL:0000911	CL:0000912	\N	"" []	CL:0000918	"" []	1138526	\N	\N	EFO	3	EFO	effector T cell	Tc2 cell
CL:0000789	CL:0000791	\N	"" []	CL:0000918	"" []	2021590	\N	\N	EFO	4	EFO	alpha-beta T cell	Tc2 cell
CL:0000789	CL:0000791	\N	"" []	CL:0000918	"" []	2021591	\N	\N	EFO	4	EFO	alpha-beta T cell	Tc2 cell
CL:0002419	CL:0000791	\N	"" []	CL:0000918	"" []	2021592	\N	\N	EFO	4	EFO	mature T cell	Tc2 cell
CL:0002419	CL:0000911	\N	"" []	CL:0000918	"" []	2021593	\N	\N	EFO	4	EFO	mature T cell	Tc2 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000918	"" []	3176198	\N	\N	EFO	5	EFO	T cell	Tc2 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000918	"" []	3176199	\N	\N	EFO	5	EFO	T cell	Tc2 cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000918	"" []	3176200	\N	\N	EFO	5	EFO	T cell	Tc2 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000918	"" []	4386900	\N	\N	EFO	6	EFO	lymphocyte	Tc2 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000918	"" []	4386901	\N	\N	EFO	6	EFO	lymphocyte	Tc2 cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000918	"" []	5408023	\N	\N	EFO	7	EFO	leukocyte	Tc2 cell
CL:0002087	CL:0000542	\N	"" []	CL:0000918	"" []	5408024	\N	\N	EFO	7	EFO	nongranular leukocyte	Tc2 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000918	"" []	6147001	\N	\N	EFO	8	EFO	hematopoietic cell	Tc2 cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000918	"" []	6147002	\N	\N	EFO	8	EFO	leukocyte	Tc2 cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000918	"" []	6631571	\N	\N	EFO	9	EFO	cell type	Tc2 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000918	"" []	6631572	\N	\N	EFO	9	EFO	hematopoietic cell	Tc2 cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000918	"" []	6925165	\N	\N	EFO	10	EFO	material entity	Tc2 cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000918	"" []	6925166	\N	\N	EFO	10	EFO	somatic cell	Tc2 cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000918	"" []	7098925	\N	\N	EFO	11	EFO	experimental factor	Tc2 cell
CL:0000919	\N	\N	"" []	CL:0000919	"" []	63159	\N	\N	EFO	0	EFO	CD8-positive, CD25-positive, alpha-beta regulatory T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000795	CL:0000919	\N	"" []	CL:0000919	"" []	202909	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta regulatory T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000795	CL:0000919	\N	"" []	CL:0000919	"" []	202910	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta regulatory T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000625	CL:0000795	\N	"" []	CL:0000919	"" []	555858	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000625	CL:0000795	\N	"" []	CL:0000919	"" []	555859	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000815	CL:0000795	\N	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	CL:0000919	"" []	555860	\N	\N	EFO	2	EFO	regulatory T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000919	"" []	1138527	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000919	"" []	1138528	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0002419	CL:0000815	\N	"" []	CL:0000919	"" []	1138529	\N	\N	EFO	3	EFO	mature T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000919	"" []	2021594	\N	\N	EFO	4	EFO	alpha-beta T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000919	"" []	2021595	\N	\N	EFO	4	EFO	alpha-beta T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000919	"" []	2021596	\N	\N	EFO	4	EFO	mature T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000919	"" []	3176203	\N	\N	EFO	5	EFO	T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000919	"" []	3176201	\N	\N	EFO	5	EFO	T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000919	"" []	3176202	\N	\N	EFO	5	EFO	T cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000919	"" []	4132425	\N	\N	EFO	6	EFO	lymphocyte	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000919	"" []	4386902	\N	\N	EFO	6	EFO	lymphocyte	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000919	"" []	5180814	\N	\N	EFO	7	EFO	nongranular leukocyte	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000919	"" []	5408025	\N	\N	EFO	7	EFO	leukocyte	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000919	"" []	5996499	\N	\N	EFO	8	EFO	leukocyte	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000919	"" []	6147003	\N	\N	EFO	8	EFO	hematopoietic cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000919	"" []	6550327	\N	\N	EFO	9	EFO	hematopoietic cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000919	"" []	6631573	\N	\N	EFO	9	EFO	cell type	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000919	"" []	6888964	\N	\N	EFO	10	EFO	somatic cell	CD8-positive, CD25-positive, alpha-beta regulatory T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000919	"" []	6925167	\N	\N	EFO	10	EFO	material entity	CD8-positive, CD25-positive, alpha-beta regulatory T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000919	"" []	7098926	\N	\N	EFO	11	EFO	experimental factor	CD8-positive, CD25-positive, alpha-beta regulatory T cell
CL:0000920	\N	\N	"" []	CL:0000920	"" []	63160	\N	\N	EFO	0	EFO	CD8-positive, CD28-negative, alpha-beta regulatory T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000795	CL:0000920	\N	"" []	CL:0000920	"" []	202911	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta regulatory T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000795	CL:0000920	\N	"" []	CL:0000920	"" []	202912	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta regulatory T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000625	CL:0000795	\N	"" []	CL:0000920	"" []	555861	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000625	CL:0000795	\N	"" []	CL:0000920	"" []	555862	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000815	CL:0000795	\N	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	CL:0000920	"" []	555863	\N	\N	EFO	2	EFO	regulatory T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000920	"" []	1138530	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000791	CL:0000625	\N	"" []	CL:0000920	"" []	1138531	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0002419	CL:0000815	\N	"" []	CL:0000920	"" []	1138532	\N	\N	EFO	3	EFO	mature T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000920	"" []	2021598	\N	\N	EFO	4	EFO	alpha-beta T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000920	"" []	2021599	\N	\N	EFO	4	EFO	alpha-beta T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000920	"" []	2021600	\N	\N	EFO	4	EFO	mature T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000920	"" []	3176207	\N	\N	EFO	5	EFO	T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000920	"" []	3176205	\N	\N	EFO	5	EFO	T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000920	"" []	3176206	\N	\N	EFO	5	EFO	T cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000920	"" []	4132426	\N	\N	EFO	6	EFO	lymphocyte	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000920	"" []	4386904	\N	\N	EFO	6	EFO	lymphocyte	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000920	"" []	5180815	\N	\N	EFO	7	EFO	nongranular leukocyte	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000920	"" []	5408027	\N	\N	EFO	7	EFO	leukocyte	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000920	"" []	5996500	\N	\N	EFO	8	EFO	leukocyte	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000920	"" []	6147005	\N	\N	EFO	8	EFO	hematopoietic cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000920	"" []	6550328	\N	\N	EFO	9	EFO	hematopoietic cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000920	"" []	6631575	\N	\N	EFO	9	EFO	cell type	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000920	"" []	6888965	\N	\N	EFO	10	EFO	somatic cell	CD8-positive, CD28-negative, alpha-beta regulatory T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000920	"" []	6925168	\N	\N	EFO	10	EFO	material entity	CD8-positive, CD28-negative, alpha-beta regulatory T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000920	"" []	7098927	\N	\N	EFO	11	EFO	experimental factor	CD8-positive, CD28-negative, alpha-beta regulatory T cell
CL:0000921	\N	\N	"" []	CL:0000921	"" []	63161	\N	\N	EFO	0	EFO	type I NK T cell	type I NK T cell
CL:0000814	CL:0000921	\N	"" []	CL:0000921	"" []	202913	\N	\N	EFO	1	EFO	mature NK T cell	type I NK T cell
CL:0000814	CL:0000921	\N	"" []	CL:0000921	"" []	202914	\N	\N	EFO	1	EFO	mature NK T cell	type I NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000921	"" []	555864	\N	\N	EFO	2	EFO	mature alpha-beta T cell	type I NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000921	"" []	555865	\N	\N	EFO	2	EFO	mature alpha-beta T cell	type I NK T cell
CL:0002127	CL:0000814	\N	"" []	CL:0000921	"" []	555866	\N	\N	EFO	2	EFO	innate effector T cell	type I NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000921	"" []	1138533	\N	\N	EFO	3	EFO	alpha-beta T cell	type I NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000921	"" []	1138534	\N	\N	EFO	3	EFO	alpha-beta T cell	type I NK T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000921	"" []	1138535	\N	\N	EFO	3	EFO	mature T cell	type I NK T cell
CL:0000911	CL:0002127	\N	"" []	CL:0000921	"" []	1138536	\N	\N	EFO	3	EFO	effector T cell	type I NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000921	"" []	2021602	\N	\N	EFO	4	EFO	T cell	type I NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000921	"" []	2021603	\N	\N	EFO	4	EFO	T cell	type I NK T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000921	"" []	3176211	\N	\N	EFO	5	EFO	T cell	type I NK T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000921	"" []	2021605	\N	\N	EFO	4	EFO	mature T cell	type I NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000921	"" []	3176209	\N	\N	EFO	5	EFO	lymphocyte	type I NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000921	"" []	4132427	\N	\N	EFO	6	EFO	lymphocyte	type I NK T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000921	"" []	4386906	\N	\N	EFO	6	EFO	leukocyte	type I NK T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000921	"" []	5180816	\N	\N	EFO	7	EFO	nongranular leukocyte	type I NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000921	"" []	5408029	\N	\N	EFO	7	EFO	hematopoietic cell	type I NK T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000921	"" []	5996501	\N	\N	EFO	8	EFO	leukocyte	type I NK T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000921	"" []	6147007	\N	\N	EFO	8	EFO	cell type	type I NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000921	"" []	6550329	\N	\N	EFO	9	EFO	hematopoietic cell	type I NK T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000921	"" []	6631577	\N	\N	EFO	9	EFO	material entity	type I NK T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000921	"" []	6888966	\N	\N	EFO	10	EFO	somatic cell	type I NK T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000921	"" []	6925169	\N	\N	EFO	10	EFO	experimental factor	type I NK T cell
CL:0000922	\N	\N	"" []	CL:0000922	"" []	63162	\N	\N	EFO	0	EFO	type II NK T cell	type II NK T cell
CL:0000814	CL:0000922	\N	"" []	CL:0000922	"" []	202915	\N	\N	EFO	1	EFO	mature NK T cell	type II NK T cell
CL:0000814	CL:0000922	\N	"" []	CL:0000922	"" []	202916	\N	\N	EFO	1	EFO	mature NK T cell	type II NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000922	"" []	555867	\N	\N	EFO	2	EFO	mature alpha-beta T cell	type II NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000922	"" []	555868	\N	\N	EFO	2	EFO	mature alpha-beta T cell	type II NK T cell
CL:0002127	CL:0000814	\N	"" []	CL:0000922	"" []	555869	\N	\N	EFO	2	EFO	innate effector T cell	type II NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000922	"" []	1138537	\N	\N	EFO	3	EFO	alpha-beta T cell	type II NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000922	"" []	1138538	\N	\N	EFO	3	EFO	alpha-beta T cell	type II NK T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000922	"" []	1138539	\N	\N	EFO	3	EFO	mature T cell	type II NK T cell
CL:0000911	CL:0002127	\N	"" []	CL:0000922	"" []	1138540	\N	\N	EFO	3	EFO	effector T cell	type II NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000922	"" []	2021606	\N	\N	EFO	4	EFO	T cell	type II NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000922	"" []	2021607	\N	\N	EFO	4	EFO	T cell	type II NK T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000922	"" []	3176214	\N	\N	EFO	5	EFO	T cell	type II NK T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000922	"" []	2021609	\N	\N	EFO	4	EFO	mature T cell	type II NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000922	"" []	3176212	\N	\N	EFO	5	EFO	lymphocyte	type II NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000922	"" []	4132428	\N	\N	EFO	6	EFO	lymphocyte	type II NK T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000922	"" []	4386908	\N	\N	EFO	6	EFO	leukocyte	type II NK T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000922	"" []	5180817	\N	\N	EFO	7	EFO	nongranular leukocyte	type II NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000922	"" []	5408031	\N	\N	EFO	7	EFO	hematopoietic cell	type II NK T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000922	"" []	5996502	\N	\N	EFO	8	EFO	leukocyte	type II NK T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000922	"" []	6147009	\N	\N	EFO	8	EFO	cell type	type II NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000922	"" []	6550330	\N	\N	EFO	9	EFO	hematopoietic cell	type II NK T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000922	"" []	6631579	\N	\N	EFO	9	EFO	material entity	type II NK T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000922	"" []	6888967	\N	\N	EFO	10	EFO	somatic cell	type II NK T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000922	"" []	6925170	\N	\N	EFO	10	EFO	experimental factor	type II NK T cell
CL:0000923	\N	\N	"" []	CL:0000923	"" []	63163	\N	\N	EFO	0	EFO	CD4-positive type I NK T cell	CD4-positive type I NK T cell
CL:0000921	CL:0000923	\N	"" []	CL:0000923	"" []	202917	\N	\N	EFO	1	EFO	type I NK T cell	CD4-positive type I NK T cell
CL:0000921	CL:0000923	\N	"" []	CL:0000923	"" []	202918	\N	\N	EFO	1	EFO	type I NK T cell	CD4-positive type I NK T cell
CL:0000814	CL:0000921	\N	"" []	CL:0000923	"" []	555870	\N	\N	EFO	2	EFO	mature NK T cell	CD4-positive type I NK T cell
CL:0000814	CL:0000921	\N	"" []	CL:0000923	"" []	555871	\N	\N	EFO	2	EFO	mature NK T cell	CD4-positive type I NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000923	"" []	1138541	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD4-positive type I NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000923	"" []	1138542	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD4-positive type I NK T cell
CL:0002127	CL:0000814	\N	"" []	CL:0000923	"" []	1138543	\N	\N	EFO	3	EFO	innate effector T cell	CD4-positive type I NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000923	"" []	2021610	\N	\N	EFO	4	EFO	alpha-beta T cell	CD4-positive type I NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000923	"" []	2021611	\N	\N	EFO	4	EFO	alpha-beta T cell	CD4-positive type I NK T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000923	"" []	2021612	\N	\N	EFO	4	EFO	mature T cell	CD4-positive type I NK T cell
CL:0000911	CL:0002127	\N	"" []	CL:0000923	"" []	2021613	\N	\N	EFO	4	EFO	effector T cell	CD4-positive type I NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000923	"" []	3176215	\N	\N	EFO	5	EFO	T cell	CD4-positive type I NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000923	"" []	3176216	\N	\N	EFO	5	EFO	T cell	CD4-positive type I NK T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000923	"" []	4386912	\N	\N	EFO	6	EFO	T cell	CD4-positive type I NK T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000923	"" []	3176218	\N	\N	EFO	5	EFO	mature T cell	CD4-positive type I NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000923	"" []	4386910	\N	\N	EFO	6	EFO	lymphocyte	CD4-positive type I NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000923	"" []	5180818	\N	\N	EFO	7	EFO	lymphocyte	CD4-positive type I NK T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000923	"" []	5408033	\N	\N	EFO	7	EFO	leukocyte	CD4-positive type I NK T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000923	"" []	5996503	\N	\N	EFO	8	EFO	nongranular leukocyte	CD4-positive type I NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000923	"" []	6147011	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-positive type I NK T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000923	"" []	6550331	\N	\N	EFO	9	EFO	leukocyte	CD4-positive type I NK T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000923	"" []	6631581	\N	\N	EFO	9	EFO	cell type	CD4-positive type I NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000923	"" []	6888968	\N	\N	EFO	10	EFO	hematopoietic cell	CD4-positive type I NK T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000923	"" []	6925171	\N	\N	EFO	10	EFO	material entity	CD4-positive type I NK T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000923	"" []	7085892	\N	\N	EFO	11	EFO	somatic cell	CD4-positive type I NK T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000923	"" []	7098928	\N	\N	EFO	11	EFO	experimental factor	CD4-positive type I NK T cell
CL:0000924	\N	\N	"" []	CL:0000924	"" []	63164	\N	\N	EFO	0	EFO	CD4-negative, CD8-negative type I NK T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000921	CL:0000924	\N	"" []	CL:0000924	"" []	202919	\N	\N	EFO	1	EFO	type I NK T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000921	CL:0000924	\N	"" []	CL:0000924	"" []	202920	\N	\N	EFO	1	EFO	type I NK T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000814	CL:0000921	\N	"" []	CL:0000924	"" []	555872	\N	\N	EFO	2	EFO	mature NK T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000814	CL:0000921	\N	"" []	CL:0000924	"" []	555873	\N	\N	EFO	2	EFO	mature NK T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000924	"" []	1138544	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000924	"" []	1138545	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD4-negative, CD8-negative type I NK T cell
CL:0002127	CL:0000814	\N	"" []	CL:0000924	"" []	1138546	\N	\N	EFO	3	EFO	innate effector T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000924	"" []	2021614	\N	\N	EFO	4	EFO	alpha-beta T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000924	"" []	2021615	\N	\N	EFO	4	EFO	alpha-beta T cell	CD4-negative, CD8-negative type I NK T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000924	"" []	2021616	\N	\N	EFO	4	EFO	mature T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000911	CL:0002127	\N	"" []	CL:0000924	"" []	2021617	\N	\N	EFO	4	EFO	effector T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000924	"" []	3176219	\N	\N	EFO	5	EFO	T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000924	"" []	3176220	\N	\N	EFO	5	EFO	T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000924	"" []	4386915	\N	\N	EFO	6	EFO	T cell	CD4-negative, CD8-negative type I NK T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000924	"" []	3176222	\N	\N	EFO	5	EFO	mature T cell	CD4-negative, CD8-negative type I NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000924	"" []	4386913	\N	\N	EFO	6	EFO	lymphocyte	CD4-negative, CD8-negative type I NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000924	"" []	5180819	\N	\N	EFO	7	EFO	lymphocyte	CD4-negative, CD8-negative type I NK T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000924	"" []	5408035	\N	\N	EFO	7	EFO	leukocyte	CD4-negative, CD8-negative type I NK T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000924	"" []	5996504	\N	\N	EFO	8	EFO	nongranular leukocyte	CD4-negative, CD8-negative type I NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000924	"" []	6147013	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-negative, CD8-negative type I NK T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000924	"" []	6550332	\N	\N	EFO	9	EFO	leukocyte	CD4-negative, CD8-negative type I NK T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000924	"" []	6631583	\N	\N	EFO	9	EFO	cell type	CD4-negative, CD8-negative type I NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000924	"" []	6888969	\N	\N	EFO	10	EFO	hematopoietic cell	CD4-negative, CD8-negative type I NK T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000924	"" []	6925173	\N	\N	EFO	10	EFO	material entity	CD4-negative, CD8-negative type I NK T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000924	"" []	7085893	\N	\N	EFO	11	EFO	somatic cell	CD4-negative, CD8-negative type I NK T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000924	"" []	7098929	\N	\N	EFO	11	EFO	experimental factor	CD4-negative, CD8-negative type I NK T cell
CL:0000925	\N	\N	"" []	CL:0000925	"" []	63165	\N	\N	EFO	0	EFO	activated CD4-positive type I NK T cell	activated CD4-positive type I NK T cell
CL:0000912	CL:0000925	\N	"" []	CL:0000925	"" []	202921	\N	\N	EFO	1	EFO	helper T cell	activated CD4-positive type I NK T cell
CL:0000921	CL:0000925	\N	"" []	CL:0000925	"" []	202922	\N	\N	EFO	1	EFO	type I NK T cell	activated CD4-positive type I NK T cell
CL:0000923	CL:0000925	\N	"" []	CL:0000925	"" []	202923	\N	\N	EFO	1	EFO	CD4-positive type I NK T cell	activated CD4-positive type I NK T cell
CL:0000911	CL:0000912	\N	"" []	CL:0000925	"" []	555874	\N	\N	EFO	2	EFO	effector T cell	activated CD4-positive type I NK T cell
CL:0000814	CL:0000921	\N	"" []	CL:0000925	"" []	555875	\N	\N	EFO	2	EFO	mature NK T cell	activated CD4-positive type I NK T cell
CL:0000921	CL:0000923	\N	"" []	CL:0000925	"" []	555876	\N	\N	EFO	2	EFO	type I NK T cell	activated CD4-positive type I NK T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000925	"" []	4386920	\N	\N	EFO	6	EFO	mature T cell	activated CD4-positive type I NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000925	"" []	1138548	\N	\N	EFO	3	EFO	mature alpha-beta T cell	activated CD4-positive type I NK T cell
CL:0000814	CL:0000921	\N	"" []	CL:0000925	"" []	1138549	\N	\N	EFO	3	EFO	mature NK T cell	activated CD4-positive type I NK T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000925	"" []	5028319	\N	\N	EFO	7	EFO	T cell	activated CD4-positive type I NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000925	"" []	2021619	\N	\N	EFO	4	EFO	alpha-beta T cell	activated CD4-positive type I NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000925	"" []	2021620	\N	\N	EFO	4	EFO	mature alpha-beta T cell	activated CD4-positive type I NK T cell
CL:0002127	CL:0000814	\N	"" []	CL:0000925	"" []	2021621	\N	\N	EFO	4	EFO	innate effector T cell	activated CD4-positive type I NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000925	"" []	5817344	\N	\N	EFO	8	EFO	lymphocyte	activated CD4-positive type I NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000925	"" []	3176224	\N	\N	EFO	5	EFO	T cell	activated CD4-positive type I NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000925	"" []	3176225	\N	\N	EFO	5	EFO	alpha-beta T cell	activated CD4-positive type I NK T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000925	"" []	3176226	\N	\N	EFO	5	EFO	mature T cell	activated CD4-positive type I NK T cell
CL:0000911	CL:0002127	\N	"" []	CL:0000925	"" []	3176227	\N	\N	EFO	5	EFO	effector T cell	activated CD4-positive type I NK T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000925	"" []	6409731	\N	\N	EFO	9	EFO	nongranular leukocyte	activated CD4-positive type I NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000925	"" []	4386917	\N	\N	EFO	6	EFO	lymphocyte	activated CD4-positive type I NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000925	"" []	4386918	\N	\N	EFO	6	EFO	T cell	activated CD4-positive type I NK T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000925	"" []	6807620	\N	\N	EFO	10	EFO	leukocyte	activated CD4-positive type I NK T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000925	"" []	5408038	\N	\N	EFO	7	EFO	leukocyte	activated CD4-positive type I NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000925	"" []	7048508	\N	\N	EFO	11	EFO	hematopoietic cell	activated CD4-positive type I NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000925	"" []	6147016	\N	\N	EFO	8	EFO	hematopoietic cell	activated CD4-positive type I NK T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000925	"" []	7190171	\N	\N	EFO	12	EFO	somatic cell	activated CD4-positive type I NK T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000925	"" []	6631586	\N	\N	EFO	9	EFO	cell type	activated CD4-positive type I NK T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000925	"" []	6925175	\N	\N	EFO	10	EFO	material entity	activated CD4-positive type I NK T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000925	"" []	7098930	\N	\N	EFO	11	EFO	experimental factor	activated CD4-positive type I NK T cell
CL:0000926	\N	\N	"" []	CL:0000926	"" []	63166	\N	\N	EFO	0	EFO	CD4-positive type I NK T cell secreting interferon-gamma	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000912	CL:0000926	\N	"" []	CL:0000926	"" []	202924	\N	\N	EFO	1	EFO	helper T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000921	CL:0000926	\N	"" []	CL:0000926	"" []	202925	\N	\N	EFO	1	EFO	type I NK T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000923	CL:0000926	\N	"" []	CL:0000926	"" []	202926	\N	\N	EFO	1	EFO	CD4-positive type I NK T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000911	CL:0000912	\N	"" []	CL:0000926	"" []	555877	\N	\N	EFO	2	EFO	effector T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000814	CL:0000921	\N	"" []	CL:0000926	"" []	555878	\N	\N	EFO	2	EFO	mature NK T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000921	CL:0000923	\N	"" []	CL:0000926	"" []	555879	\N	\N	EFO	2	EFO	type I NK T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0002419	CL:0000911	\N	"" []	CL:0000926	"" []	4386925	\N	\N	EFO	6	EFO	mature T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000791	CL:0000814	\N	"" []	CL:0000926	"" []	1138551	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000814	CL:0000921	\N	"" []	CL:0000926	"" []	1138552	\N	\N	EFO	3	EFO	mature NK T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000926	"" []	5028320	\N	\N	EFO	7	EFO	T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000789	CL:0000791	\N	"" []	CL:0000926	"" []	2021623	\N	\N	EFO	4	EFO	alpha-beta T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000791	CL:0000814	\N	"" []	CL:0000926	"" []	2021624	\N	\N	EFO	4	EFO	mature alpha-beta T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0002127	CL:0000814	\N	"" []	CL:0000926	"" []	2021625	\N	\N	EFO	4	EFO	innate effector T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000926	"" []	5817345	\N	\N	EFO	8	EFO	lymphocyte	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000926	"" []	3176229	\N	\N	EFO	5	EFO	T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000789	CL:0000791	\N	"" []	CL:0000926	"" []	3176230	\N	\N	EFO	5	EFO	alpha-beta T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0002419	CL:0000791	\N	"" []	CL:0000926	"" []	3176231	\N	\N	EFO	5	EFO	mature T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000911	CL:0002127	\N	"" []	CL:0000926	"" []	3176232	\N	\N	EFO	5	EFO	effector T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0002087	CL:0000542	\N	"" []	CL:0000926	"" []	6409732	\N	\N	EFO	9	EFO	nongranular leukocyte	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000926	"" []	4386922	\N	\N	EFO	6	EFO	lymphocyte	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000926	"" []	4386923	\N	\N	EFO	6	EFO	T cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000926	"" []	6807621	\N	\N	EFO	10	EFO	leukocyte	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000926	"" []	5408040	\N	\N	EFO	7	EFO	leukocyte	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000926	"" []	7048509	\N	\N	EFO	11	EFO	hematopoietic cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000926	"" []	6147018	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-positive type I NK T cell secreting interferon-gamma
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000926	"" []	7190172	\N	\N	EFO	12	EFO	somatic cell	CD4-positive type I NK T cell secreting interferon-gamma
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000926	"" []	6631588	\N	\N	EFO	9	EFO	cell type	CD4-positive type I NK T cell secreting interferon-gamma
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000926	"" []	6925176	\N	\N	EFO	10	EFO	material entity	CD4-positive type I NK T cell secreting interferon-gamma
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000926	"" []	7098931	\N	\N	EFO	11	EFO	experimental factor	CD4-positive type I NK T cell secreting interferon-gamma
CL:0000927	\N	\N	"" []	CL:0000927	"" []	63167	\N	\N	EFO	0	EFO	CD4-positive type I NK T cell secreting interleukin-4	CD4-positive type I NK T cell secreting interleukin-4
CL:0000912	CL:0000927	\N	"" []	CL:0000927	"" []	202927	\N	\N	EFO	1	EFO	helper T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000921	CL:0000927	\N	"" []	CL:0000927	"" []	202928	\N	\N	EFO	1	EFO	type I NK T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000923	CL:0000927	\N	"" []	CL:0000927	"" []	202929	\N	\N	EFO	1	EFO	CD4-positive type I NK T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000911	CL:0000912	\N	"" []	CL:0000927	"" []	555880	\N	\N	EFO	2	EFO	effector T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000814	CL:0000921	\N	"" []	CL:0000927	"" []	555881	\N	\N	EFO	2	EFO	mature NK T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000921	CL:0000923	\N	"" []	CL:0000927	"" []	555882	\N	\N	EFO	2	EFO	type I NK T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0002419	CL:0000911	\N	"" []	CL:0000927	"" []	4386930	\N	\N	EFO	6	EFO	mature T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000791	CL:0000814	\N	"" []	CL:0000927	"" []	1138554	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000814	CL:0000921	\N	"" []	CL:0000927	"" []	1138555	\N	\N	EFO	3	EFO	mature NK T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000927	"" []	5028321	\N	\N	EFO	7	EFO	T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000789	CL:0000791	\N	"" []	CL:0000927	"" []	2021627	\N	\N	EFO	4	EFO	alpha-beta T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000791	CL:0000814	\N	"" []	CL:0000927	"" []	2021628	\N	\N	EFO	4	EFO	mature alpha-beta T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0002127	CL:0000814	\N	"" []	CL:0000927	"" []	2021629	\N	\N	EFO	4	EFO	innate effector T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000927	"" []	5817346	\N	\N	EFO	8	EFO	lymphocyte	CD4-positive type I NK T cell secreting interleukin-4
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000927	"" []	3176234	\N	\N	EFO	5	EFO	T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000789	CL:0000791	\N	"" []	CL:0000927	"" []	3176235	\N	\N	EFO	5	EFO	alpha-beta T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0002419	CL:0000791	\N	"" []	CL:0000927	"" []	3176236	\N	\N	EFO	5	EFO	mature T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000911	CL:0002127	\N	"" []	CL:0000927	"" []	3176237	\N	\N	EFO	5	EFO	effector T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0002087	CL:0000542	\N	"" []	CL:0000927	"" []	6409733	\N	\N	EFO	9	EFO	nongranular leukocyte	CD4-positive type I NK T cell secreting interleukin-4
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000927	"" []	4386927	\N	\N	EFO	6	EFO	lymphocyte	CD4-positive type I NK T cell secreting interleukin-4
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000927	"" []	4386928	\N	\N	EFO	6	EFO	T cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000927	"" []	6807622	\N	\N	EFO	10	EFO	leukocyte	CD4-positive type I NK T cell secreting interleukin-4
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000927	"" []	5408042	\N	\N	EFO	7	EFO	leukocyte	CD4-positive type I NK T cell secreting interleukin-4
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000927	"" []	7048510	\N	\N	EFO	11	EFO	hematopoietic cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000927	"" []	6147020	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-positive type I NK T cell secreting interleukin-4
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000927	"" []	7190173	\N	\N	EFO	12	EFO	somatic cell	CD4-positive type I NK T cell secreting interleukin-4
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000927	"" []	6631590	\N	\N	EFO	9	EFO	cell type	CD4-positive type I NK T cell secreting interleukin-4
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000927	"" []	6925177	\N	\N	EFO	10	EFO	material entity	CD4-positive type I NK T cell secreting interleukin-4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000927	"" []	7098932	\N	\N	EFO	11	EFO	experimental factor	CD4-positive type I NK T cell secreting interleukin-4
CL:0000928	\N	\N	"" []	CL:0000928	"" []	63168	\N	\N	EFO	0	EFO	activated CD4-negative, CD8-negative type I NK T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000912	CL:0000928	\N	"" []	CL:0000928	"" []	202930	\N	\N	EFO	1	EFO	helper T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000921	CL:0000928	\N	"" []	CL:0000928	"" []	202931	\N	\N	EFO	1	EFO	type I NK T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000924	CL:0000928	\N	"" []	CL:0000928	"" []	202932	\N	\N	EFO	1	EFO	CD4-negative, CD8-negative type I NK T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000911	CL:0000912	\N	"" []	CL:0000928	"" []	555883	\N	\N	EFO	2	EFO	effector T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000814	CL:0000921	\N	"" []	CL:0000928	"" []	555884	\N	\N	EFO	2	EFO	mature NK T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000921	CL:0000924	\N	"" []	CL:0000928	"" []	555885	\N	\N	EFO	2	EFO	type I NK T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000928	"" []	4386935	\N	\N	EFO	6	EFO	mature T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000928	"" []	1138557	\N	\N	EFO	3	EFO	mature alpha-beta T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000814	CL:0000921	\N	"" []	CL:0000928	"" []	1138558	\N	\N	EFO	3	EFO	mature NK T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000928	"" []	5028322	\N	\N	EFO	7	EFO	T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000928	"" []	2021631	\N	\N	EFO	4	EFO	alpha-beta T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000928	"" []	2021632	\N	\N	EFO	4	EFO	mature alpha-beta T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0002127	CL:0000814	\N	"" []	CL:0000928	"" []	2021633	\N	\N	EFO	4	EFO	innate effector T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000928	"" []	5817347	\N	\N	EFO	8	EFO	lymphocyte	activated CD4-negative, CD8-negative type I NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000928	"" []	3176239	\N	\N	EFO	5	EFO	T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000928	"" []	3176240	\N	\N	EFO	5	EFO	alpha-beta T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000928	"" []	3176241	\N	\N	EFO	5	EFO	mature T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000911	CL:0002127	\N	"" []	CL:0000928	"" []	3176242	\N	\N	EFO	5	EFO	effector T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000928	"" []	6409734	\N	\N	EFO	9	EFO	nongranular leukocyte	activated CD4-negative, CD8-negative type I NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000928	"" []	4386932	\N	\N	EFO	6	EFO	lymphocyte	activated CD4-negative, CD8-negative type I NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000928	"" []	4386933	\N	\N	EFO	6	EFO	T cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000928	"" []	6807623	\N	\N	EFO	10	EFO	leukocyte	activated CD4-negative, CD8-negative type I NK T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000928	"" []	5408044	\N	\N	EFO	7	EFO	leukocyte	activated CD4-negative, CD8-negative type I NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000928	"" []	7048511	\N	\N	EFO	11	EFO	hematopoietic cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000928	"" []	6147022	\N	\N	EFO	8	EFO	hematopoietic cell	activated CD4-negative, CD8-negative type I NK T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000928	"" []	7190174	\N	\N	EFO	12	EFO	somatic cell	activated CD4-negative, CD8-negative type I NK T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000928	"" []	6631592	\N	\N	EFO	9	EFO	cell type	activated CD4-negative, CD8-negative type I NK T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000928	"" []	6925178	\N	\N	EFO	10	EFO	material entity	activated CD4-negative, CD8-negative type I NK T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000928	"" []	7098933	\N	\N	EFO	11	EFO	experimental factor	activated CD4-negative, CD8-negative type I NK T cell
CL:0000929	\N	\N	"" []	CL:0000929	"" []	63169	\N	\N	EFO	0	EFO	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000912	CL:0000929	\N	"" []	CL:0000929	"" []	202933	\N	\N	EFO	1	EFO	helper T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000921	CL:0000929	\N	"" []	CL:0000929	"" []	202934	\N	\N	EFO	1	EFO	type I NK T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000924	CL:0000929	\N	"" []	CL:0000929	"" []	202935	\N	\N	EFO	1	EFO	CD4-negative, CD8-negative type I NK T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000911	CL:0000912	\N	"" []	CL:0000929	"" []	555886	\N	\N	EFO	2	EFO	effector T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000814	CL:0000921	\N	"" []	CL:0000929	"" []	555887	\N	\N	EFO	2	EFO	mature NK T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000921	CL:0000924	\N	"" []	CL:0000929	"" []	555888	\N	\N	EFO	2	EFO	type I NK T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0002419	CL:0000911	\N	"" []	CL:0000929	"" []	4386940	\N	\N	EFO	6	EFO	mature T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000791	CL:0000814	\N	"" []	CL:0000929	"" []	1138560	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000814	CL:0000921	\N	"" []	CL:0000929	"" []	1138561	\N	\N	EFO	3	EFO	mature NK T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000929	"" []	5028323	\N	\N	EFO	7	EFO	T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000789	CL:0000791	\N	"" []	CL:0000929	"" []	2021635	\N	\N	EFO	4	EFO	alpha-beta T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000791	CL:0000814	\N	"" []	CL:0000929	"" []	2021636	\N	\N	EFO	4	EFO	mature alpha-beta T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0002127	CL:0000814	\N	"" []	CL:0000929	"" []	2021637	\N	\N	EFO	4	EFO	innate effector T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000929	"" []	5817348	\N	\N	EFO	8	EFO	lymphocyte	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000929	"" []	3176244	\N	\N	EFO	5	EFO	T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000789	CL:0000791	\N	"" []	CL:0000929	"" []	3176245	\N	\N	EFO	5	EFO	alpha-beta T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0002419	CL:0000791	\N	"" []	CL:0000929	"" []	3176246	\N	\N	EFO	5	EFO	mature T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000911	CL:0002127	\N	"" []	CL:0000929	"" []	3176247	\N	\N	EFO	5	EFO	effector T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0002087	CL:0000542	\N	"" []	CL:0000929	"" []	6409735	\N	\N	EFO	9	EFO	nongranular leukocyte	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000929	"" []	4386937	\N	\N	EFO	6	EFO	lymphocyte	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000929	"" []	4386938	\N	\N	EFO	6	EFO	T cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000929	"" []	6807624	\N	\N	EFO	10	EFO	leukocyte	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000929	"" []	5408046	\N	\N	EFO	7	EFO	leukocyte	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000929	"" []	7048512	\N	\N	EFO	11	EFO	hematopoietic cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000929	"" []	6147024	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000929	"" []	7190175	\N	\N	EFO	12	EFO	somatic cell	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000929	"" []	6631594	\N	\N	EFO	9	EFO	cell type	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000929	"" []	6925179	\N	\N	EFO	10	EFO	material entity	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000929	"" []	7098934	\N	\N	EFO	11	EFO	experimental factor	CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
CL:0000930	\N	\N	"" []	CL:0000930	"" []	63170	\N	\N	EFO	0	EFO	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000912	CL:0000930	\N	"" []	CL:0000930	"" []	202936	\N	\N	EFO	1	EFO	helper T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000921	CL:0000930	\N	"" []	CL:0000930	"" []	202937	\N	\N	EFO	1	EFO	type I NK T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000924	CL:0000930	\N	"" []	CL:0000930	"" []	202938	\N	\N	EFO	1	EFO	CD4-negative, CD8-negative type I NK T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000911	CL:0000912	\N	"" []	CL:0000930	"" []	555889	\N	\N	EFO	2	EFO	effector T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000814	CL:0000921	\N	"" []	CL:0000930	"" []	555890	\N	\N	EFO	2	EFO	mature NK T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000921	CL:0000924	\N	"" []	CL:0000930	"" []	555891	\N	\N	EFO	2	EFO	type I NK T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0002419	CL:0000911	\N	"" []	CL:0000930	"" []	4386945	\N	\N	EFO	6	EFO	mature T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000791	CL:0000814	\N	"" []	CL:0000930	"" []	1138563	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000814	CL:0000921	\N	"" []	CL:0000930	"" []	1138564	\N	\N	EFO	3	EFO	mature NK T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000930	"" []	5028324	\N	\N	EFO	7	EFO	T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000789	CL:0000791	\N	"" []	CL:0000930	"" []	2021639	\N	\N	EFO	4	EFO	alpha-beta T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000791	CL:0000814	\N	"" []	CL:0000930	"" []	2021640	\N	\N	EFO	4	EFO	mature alpha-beta T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0002127	CL:0000814	\N	"" []	CL:0000930	"" []	2021641	\N	\N	EFO	4	EFO	innate effector T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000930	"" []	5817349	\N	\N	EFO	8	EFO	lymphocyte	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000930	"" []	3176249	\N	\N	EFO	5	EFO	T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000789	CL:0000791	\N	"" []	CL:0000930	"" []	3176250	\N	\N	EFO	5	EFO	alpha-beta T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0002419	CL:0000791	\N	"" []	CL:0000930	"" []	3176251	\N	\N	EFO	5	EFO	mature T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000911	CL:0002127	\N	"" []	CL:0000930	"" []	3176252	\N	\N	EFO	5	EFO	effector T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0002087	CL:0000542	\N	"" []	CL:0000930	"" []	6409736	\N	\N	EFO	9	EFO	nongranular leukocyte	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000930	"" []	4386942	\N	\N	EFO	6	EFO	lymphocyte	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000930	"" []	4386943	\N	\N	EFO	6	EFO	T cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000930	"" []	6807625	\N	\N	EFO	10	EFO	leukocyte	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000930	"" []	5408048	\N	\N	EFO	7	EFO	leukocyte	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000930	"" []	7048513	\N	\N	EFO	11	EFO	hematopoietic cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000930	"" []	6147026	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000930	"" []	7190176	\N	\N	EFO	12	EFO	somatic cell	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000930	"" []	6631596	\N	\N	EFO	9	EFO	cell type	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000930	"" []	6925180	\N	\N	EFO	10	EFO	material entity	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000930	"" []	7098935	\N	\N	EFO	11	EFO	experimental factor	CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
CL:0000931	\N	\N	"" []	CL:0000931	"" []	63171	\N	\N	EFO	0	EFO	activated type II NK T cell	activated type II NK T cell
CL:0000912	CL:0000931	\N	"" []	CL:0000931	"" []	202939	\N	\N	EFO	1	EFO	helper T cell	activated type II NK T cell
CL:0000922	CL:0000931	\N	"" []	CL:0000931	"" []	202940	\N	\N	EFO	1	EFO	type II NK T cell	activated type II NK T cell
CL:0000922	CL:0000931	\N	"" []	CL:0000931	"" []	202941	\N	\N	EFO	1	EFO	type II NK T cell	activated type II NK T cell
CL:0000911	CL:0000912	\N	"" []	CL:0000931	"" []	555892	\N	\N	EFO	2	EFO	effector T cell	activated type II NK T cell
CL:0000814	CL:0000922	\N	"" []	CL:0000931	"" []	555893	\N	\N	EFO	2	EFO	mature NK T cell	activated type II NK T cell
CL:0000814	CL:0000922	\N	"" []	CL:0000931	"" []	555894	\N	\N	EFO	2	EFO	mature NK T cell	activated type II NK T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000931	"" []	3176257	\N	\N	EFO	5	EFO	mature T cell	activated type II NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000931	"" []	1138566	\N	\N	EFO	3	EFO	mature alpha-beta T cell	activated type II NK T cell
CL:0000791	CL:0000814	\N	"" []	CL:0000931	"" []	1138567	\N	\N	EFO	3	EFO	mature alpha-beta T cell	activated type II NK T cell
CL:0002127	CL:0000814	\N	"" []	CL:0000931	"" []	1138568	\N	\N	EFO	3	EFO	innate effector T cell	activated type II NK T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000931	"" []	4066652	\N	\N	EFO	6	EFO	T cell	activated type II NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000931	"" []	2021643	\N	\N	EFO	4	EFO	alpha-beta T cell	activated type II NK T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000931	"" []	2021644	\N	\N	EFO	4	EFO	alpha-beta T cell	activated type II NK T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000931	"" []	2021645	\N	\N	EFO	4	EFO	mature T cell	activated type II NK T cell
CL:0000911	CL:0002127	\N	"" []	CL:0000931	"" []	2021646	\N	\N	EFO	4	EFO	effector T cell	activated type II NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000931	"" []	5059269	\N	\N	EFO	7	EFO	lymphocyte	activated type II NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000931	"" []	3176254	\N	\N	EFO	5	EFO	T cell	activated type II NK T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000931	"" []	3176255	\N	\N	EFO	5	EFO	T cell	activated type II NK T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000931	"" []	5876489	\N	\N	EFO	8	EFO	nongranular leukocyte	activated type II NK T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000931	"" []	4386947	\N	\N	EFO	6	EFO	lymphocyte	activated type II NK T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000931	"" []	6469792	\N	\N	EFO	9	EFO	leukocyte	activated type II NK T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000931	"" []	5408050	\N	\N	EFO	7	EFO	leukocyte	activated type II NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000931	"" []	6848198	\N	\N	EFO	10	EFO	hematopoietic cell	activated type II NK T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000931	"" []	6147028	\N	\N	EFO	8	EFO	hematopoietic cell	activated type II NK T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000931	"" []	7068357	\N	\N	EFO	11	EFO	somatic cell	activated type II NK T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000931	"" []	6631598	\N	\N	EFO	9	EFO	cell type	activated type II NK T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000931	"" []	6925181	\N	\N	EFO	10	EFO	material entity	activated type II NK T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000931	"" []	7098936	\N	\N	EFO	11	EFO	experimental factor	activated type II NK T cell
CL:0000932	\N	\N	"" []	CL:0000932	"" []	63172	\N	\N	EFO	0	EFO	type II NK T cell secreting interferon-gamma	type II NK T cell secreting interferon-gamma
CL:0000912	CL:0000932	\N	"" []	CL:0000932	"" []	202942	\N	\N	EFO	1	EFO	helper T cell	type II NK T cell secreting interferon-gamma
CL:0000922	CL:0000932	\N	"" []	CL:0000932	"" []	202943	\N	\N	EFO	1	EFO	type II NK T cell	type II NK T cell secreting interferon-gamma
CL:0000922	CL:0000932	\N	"" []	CL:0000932	"" []	202944	\N	\N	EFO	1	EFO	type II NK T cell	type II NK T cell secreting interferon-gamma
CL:0000911	CL:0000912	\N	"" []	CL:0000932	"" []	555895	\N	\N	EFO	2	EFO	effector T cell	type II NK T cell secreting interferon-gamma
CL:0000814	CL:0000922	\N	"" []	CL:0000932	"" []	555896	\N	\N	EFO	2	EFO	mature NK T cell	type II NK T cell secreting interferon-gamma
CL:0000814	CL:0000922	\N	"" []	CL:0000932	"" []	555897	\N	\N	EFO	2	EFO	mature NK T cell	type II NK T cell secreting interferon-gamma
CL:0002419	CL:0000911	\N	"" []	CL:0000932	"" []	3176262	\N	\N	EFO	5	EFO	mature T cell	type II NK T cell secreting interferon-gamma
CL:0000791	CL:0000814	\N	"" []	CL:0000932	"" []	1138570	\N	\N	EFO	3	EFO	mature alpha-beta T cell	type II NK T cell secreting interferon-gamma
CL:0000791	CL:0000814	\N	"" []	CL:0000932	"" []	1138571	\N	\N	EFO	3	EFO	mature alpha-beta T cell	type II NK T cell secreting interferon-gamma
CL:0002127	CL:0000814	\N	"" []	CL:0000932	"" []	1138572	\N	\N	EFO	3	EFO	innate effector T cell	type II NK T cell secreting interferon-gamma
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000932	"" []	4066653	\N	\N	EFO	6	EFO	T cell	type II NK T cell secreting interferon-gamma
CL:0000789	CL:0000791	\N	"" []	CL:0000932	"" []	2021648	\N	\N	EFO	4	EFO	alpha-beta T cell	type II NK T cell secreting interferon-gamma
CL:0000789	CL:0000791	\N	"" []	CL:0000932	"" []	2021649	\N	\N	EFO	4	EFO	alpha-beta T cell	type II NK T cell secreting interferon-gamma
CL:0002419	CL:0000791	\N	"" []	CL:0000932	"" []	2021650	\N	\N	EFO	4	EFO	mature T cell	type II NK T cell secreting interferon-gamma
CL:0000911	CL:0002127	\N	"" []	CL:0000932	"" []	2021651	\N	\N	EFO	4	EFO	effector T cell	type II NK T cell secreting interferon-gamma
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000932	"" []	5059270	\N	\N	EFO	7	EFO	lymphocyte	type II NK T cell secreting interferon-gamma
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000932	"" []	3176259	\N	\N	EFO	5	EFO	T cell	type II NK T cell secreting interferon-gamma
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000932	"" []	3176260	\N	\N	EFO	5	EFO	T cell	type II NK T cell secreting interferon-gamma
CL:0002087	CL:0000542	\N	"" []	CL:0000932	"" []	5876490	\N	\N	EFO	8	EFO	nongranular leukocyte	type II NK T cell secreting interferon-gamma
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000932	"" []	4386949	\N	\N	EFO	6	EFO	lymphocyte	type II NK T cell secreting interferon-gamma
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000932	"" []	6469793	\N	\N	EFO	9	EFO	leukocyte	type II NK T cell secreting interferon-gamma
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000932	"" []	5408052	\N	\N	EFO	7	EFO	leukocyte	type II NK T cell secreting interferon-gamma
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000932	"" []	6848199	\N	\N	EFO	10	EFO	hematopoietic cell	type II NK T cell secreting interferon-gamma
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000932	"" []	6147030	\N	\N	EFO	8	EFO	hematopoietic cell	type II NK T cell secreting interferon-gamma
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000932	"" []	7068358	\N	\N	EFO	11	EFO	somatic cell	type II NK T cell secreting interferon-gamma
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000932	"" []	6631600	\N	\N	EFO	9	EFO	cell type	type II NK T cell secreting interferon-gamma
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000932	"" []	6925182	\N	\N	EFO	10	EFO	material entity	type II NK T cell secreting interferon-gamma
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000932	"" []	7098937	\N	\N	EFO	11	EFO	experimental factor	type II NK T cell secreting interferon-gamma
CL:0000933	\N	\N	"" []	CL:0000933	"" []	63173	\N	\N	EFO	0	EFO	type II NK T cell secreting interleukin-4	type II NK T cell secreting interleukin-4
CL:0000912	CL:0000933	\N	"" []	CL:0000933	"" []	202945	\N	\N	EFO	1	EFO	helper T cell	type II NK T cell secreting interleukin-4
CL:0000922	CL:0000933	\N	"" []	CL:0000933	"" []	202946	\N	\N	EFO	1	EFO	type II NK T cell	type II NK T cell secreting interleukin-4
CL:0000922	CL:0000933	\N	"" []	CL:0000933	"" []	202947	\N	\N	EFO	1	EFO	type II NK T cell	type II NK T cell secreting interleukin-4
CL:0000911	CL:0000912	\N	"" []	CL:0000933	"" []	555898	\N	\N	EFO	2	EFO	effector T cell	type II NK T cell secreting interleukin-4
CL:0000814	CL:0000922	\N	"" []	CL:0000933	"" []	555899	\N	\N	EFO	2	EFO	mature NK T cell	type II NK T cell secreting interleukin-4
CL:0000814	CL:0000922	\N	"" []	CL:0000933	"" []	555900	\N	\N	EFO	2	EFO	mature NK T cell	type II NK T cell secreting interleukin-4
CL:0002419	CL:0000911	\N	"" []	CL:0000933	"" []	3176267	\N	\N	EFO	5	EFO	mature T cell	type II NK T cell secreting interleukin-4
CL:0000791	CL:0000814	\N	"" []	CL:0000933	"" []	1138574	\N	\N	EFO	3	EFO	mature alpha-beta T cell	type II NK T cell secreting interleukin-4
CL:0000791	CL:0000814	\N	"" []	CL:0000933	"" []	1138575	\N	\N	EFO	3	EFO	mature alpha-beta T cell	type II NK T cell secreting interleukin-4
CL:0002127	CL:0000814	\N	"" []	CL:0000933	"" []	1138576	\N	\N	EFO	3	EFO	innate effector T cell	type II NK T cell secreting interleukin-4
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000933	"" []	4066654	\N	\N	EFO	6	EFO	T cell	type II NK T cell secreting interleukin-4
CL:0000789	CL:0000791	\N	"" []	CL:0000933	"" []	2021653	\N	\N	EFO	4	EFO	alpha-beta T cell	type II NK T cell secreting interleukin-4
CL:0000789	CL:0000791	\N	"" []	CL:0000933	"" []	2021654	\N	\N	EFO	4	EFO	alpha-beta T cell	type II NK T cell secreting interleukin-4
CL:0002419	CL:0000791	\N	"" []	CL:0000933	"" []	2021655	\N	\N	EFO	4	EFO	mature T cell	type II NK T cell secreting interleukin-4
CL:0000911	CL:0002127	\N	"" []	CL:0000933	"" []	2021656	\N	\N	EFO	4	EFO	effector T cell	type II NK T cell secreting interleukin-4
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000933	"" []	5059271	\N	\N	EFO	7	EFO	lymphocyte	type II NK T cell secreting interleukin-4
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000933	"" []	3176264	\N	\N	EFO	5	EFO	T cell	type II NK T cell secreting interleukin-4
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000933	"" []	3176265	\N	\N	EFO	5	EFO	T cell	type II NK T cell secreting interleukin-4
CL:0002087	CL:0000542	\N	"" []	CL:0000933	"" []	5876491	\N	\N	EFO	8	EFO	nongranular leukocyte	type II NK T cell secreting interleukin-4
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000933	"" []	4386951	\N	\N	EFO	6	EFO	lymphocyte	type II NK T cell secreting interleukin-4
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000933	"" []	6469794	\N	\N	EFO	9	EFO	leukocyte	type II NK T cell secreting interleukin-4
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000933	"" []	5408054	\N	\N	EFO	7	EFO	leukocyte	type II NK T cell secreting interleukin-4
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000933	"" []	6848200	\N	\N	EFO	10	EFO	hematopoietic cell	type II NK T cell secreting interleukin-4
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000933	"" []	6147032	\N	\N	EFO	8	EFO	hematopoietic cell	type II NK T cell secreting interleukin-4
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000933	"" []	7068359	\N	\N	EFO	11	EFO	somatic cell	type II NK T cell secreting interleukin-4
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000933	"" []	6631602	\N	\N	EFO	9	EFO	cell type	type II NK T cell secreting interleukin-4
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000933	"" []	6925183	\N	\N	EFO	10	EFO	material entity	type II NK T cell secreting interleukin-4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000933	"" []	7098938	\N	\N	EFO	11	EFO	experimental factor	type II NK T cell secreting interleukin-4
CL:0000934	\N	\N	"" []	CL:0000934	"" []	63174	\N	\N	EFO	0	EFO	CD4-positive, alpha-beta cytotoxic T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000624	CL:0000934	\N	"" []	CL:0000934	"" []	202948	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000624	CL:0000934	\N	"" []	CL:0000934	"" []	202949	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000910	CL:0000934	\N	"" []	CL:0000934	"" []	202950	\N	\N	EFO	1	EFO	cytotoxic T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000934	"" []	555901	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000791	CL:0000624	\N	"" []	CL:0000934	"" []	555902	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000911	CL:0000910	\N	"" []	CL:0000934	"" []	555903	\N	\N	EFO	2	EFO	effector T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000934	"" []	1138577	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000934	"" []	1138578	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000934	"" []	1138579	\N	\N	EFO	3	EFO	mature T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000934	"" []	1138580	\N	\N	EFO	3	EFO	mature T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000934	"" []	2021657	\N	\N	EFO	4	EFO	T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000934	"" []	2021658	\N	\N	EFO	4	EFO	T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000934	"" []	2021659	\N	\N	EFO	4	EFO	T cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000934	"" []	3176268	\N	\N	EFO	5	EFO	lymphocyte	CD4-positive, alpha-beta cytotoxic T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000934	"" []	3176269	\N	\N	EFO	5	EFO	lymphocyte	CD4-positive, alpha-beta cytotoxic T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000934	"" []	4386952	\N	\N	EFO	6	EFO	leukocyte	CD4-positive, alpha-beta cytotoxic T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000934	"" []	4386953	\N	\N	EFO	6	EFO	nongranular leukocyte	CD4-positive, alpha-beta cytotoxic T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000934	"" []	5408055	\N	\N	EFO	7	EFO	hematopoietic cell	CD4-positive, alpha-beta cytotoxic T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000934	"" []	5408056	\N	\N	EFO	7	EFO	leukocyte	CD4-positive, alpha-beta cytotoxic T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000934	"" []	6147033	\N	\N	EFO	8	EFO	cell type	CD4-positive, alpha-beta cytotoxic T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000934	"" []	6147034	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-positive, alpha-beta cytotoxic T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000934	"" []	6631603	\N	\N	EFO	9	EFO	material entity	CD4-positive, alpha-beta cytotoxic T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000934	"" []	6631604	\N	\N	EFO	9	EFO	somatic cell	CD4-positive, alpha-beta cytotoxic T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000934	"" []	6925184	\N	\N	EFO	10	EFO	experimental factor	CD4-positive, alpha-beta cytotoxic T cell
CL:0000935	\N	\N	"" []	CL:0000935	"" []	63175	\N	\N	EFO	0	EFO	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000797	CL:0000935	\N	"" []	CL:0000935	"" []	202951	\N	\N	EFO	1	EFO	alpha-beta intraepithelial T cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000797	CL:0000935	\N	"" []	CL:0000935	"" []	202952	\N	\N	EFO	1	EFO	alpha-beta intraepithelial T cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000791	CL:0000797	\N	"" []	CL:0000935	"" []	555904	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000791	CL:0000797	\N	"" []	CL:0000935	"" []	555905	\N	\N	EFO	2	EFO	mature alpha-beta T cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0002496	CL:0000797	\N	"" []	CL:0000935	"" []	555906	\N	\N	EFO	2	EFO	intraepithelial lymphocyte	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000935	"" []	1138581	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000935	"" []	1138582	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000935	"" []	1138583	\N	\N	EFO	3	EFO	mature T cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0002419	CL:0002496	\N	"" []	CL:0000935	"" []	1138584	\N	\N	EFO	3	EFO	mature T cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000935	"" []	2021660	\N	\N	EFO	4	EFO	T cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000935	"" []	2021661	\N	\N	EFO	4	EFO	T cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000935	"" []	2021662	\N	\N	EFO	4	EFO	T cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000935	"" []	3176270	\N	\N	EFO	5	EFO	lymphocyte	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000935	"" []	3176271	\N	\N	EFO	5	EFO	lymphocyte	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000935	"" []	4386954	\N	\N	EFO	6	EFO	leukocyte	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000935	"" []	4386955	\N	\N	EFO	6	EFO	nongranular leukocyte	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000935	"" []	5408057	\N	\N	EFO	7	EFO	hematopoietic cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000935	"" []	5408058	\N	\N	EFO	7	EFO	leukocyte	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000935	"" []	6147035	\N	\N	EFO	8	EFO	cell type	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000935	"" []	6147036	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000935	"" []	6631605	\N	\N	EFO	9	EFO	material entity	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000935	"" []	6631606	\N	\N	EFO	9	EFO	somatic cell	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000935	"" []	6925185	\N	\N	EFO	10	EFO	experimental factor	CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
CL:0000936	\N	\N	"" []	CL:0000936	"" []	63176	\N	\N	EFO	0	EFO	early lymphoid progenitor	early lymphoid progenitor
CL:0011115	\N	\N	"A cell that, by division or terminal differentiation, can give rise to other cell types." [GOC:dos]	CL:0000936	"" []	194213	\N	\N	EFO	0	EFO	precursor cell	early lymphoid progenitor
CL:0000837	CL:0000936	\N	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	CL:0000936	"" []	202953	\N	\N	EFO	1	EFO	hematopoietic multipotent progenitor cell	early lymphoid progenitor
CL:0000837	CL:0000936	\N	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	CL:0000936	"" []	202954	\N	\N	EFO	1	EFO	hematopoietic multipotent progenitor cell	early lymphoid progenitor
CL:0000988	CL:0000837	\N	"A cell of a hematopoietic lineage." []	CL:0000936	"" []	555907	\N	\N	EFO	2	EFO	hematopoietic cell	early lymphoid progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000936	"" []	1138585	\N	\N	EFO	3	EFO	cell type	early lymphoid progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000936	"" []	2021663	\N	\N	EFO	4	EFO	material entity	early lymphoid progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000936	"" []	3176272	\N	\N	EFO	5	EFO	experimental factor	early lymphoid progenitor
CL:0000937	\N	\N	"" []	CL:0000937	"" []	63177	\N	\N	EFO	0	EFO	pre-natural killer cell	pre-natural killer cell
CL:0000623	CL:0000937	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0000937	"" []	202955	\N	\N	EFO	1	EFO	natural killer cell	pre-natural killer cell
CL:0000623	CL:0000937	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0000937	"" []	202956	\N	\N	EFO	1	EFO	natural killer cell	pre-natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000937	"" []	555908	\N	\N	EFO	2	EFO	lymphocyte	pre-natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000937	"" []	1138586	\N	\N	EFO	3	EFO	leukocyte	pre-natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000937	"" []	2021664	\N	\N	EFO	4	EFO	hematopoietic cell	pre-natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000937	"" []	3176273	\N	\N	EFO	5	EFO	cell type	pre-natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000937	"" []	4386956	\N	\N	EFO	6	EFO	material entity	pre-natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000937	"" []	5408059	\N	\N	EFO	7	EFO	experimental factor	pre-natural killer cell
CL:0000938	\N	\N	"" []	CL:0000938	"" []	63178	\N	\N	EFO	0	EFO	CD56-bright cytokine secreting natural killer cell	CD56-bright cytokine secreting natural killer cell
CL:0000824	CL:0000938	\N	"" []	CL:0000938	"" []	202957	\N	\N	EFO	1	EFO	mature natural killer cell	CD56-bright cytokine secreting natural killer cell
CL:0000824	CL:0000938	\N	"" []	CL:0000938	"" []	202958	\N	\N	EFO	1	EFO	mature natural killer cell	CD56-bright cytokine secreting natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0000938	"" []	555909	\N	\N	EFO	2	EFO	natural killer cell	CD56-bright cytokine secreting natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0000938	"" []	555910	\N	\N	EFO	2	EFO	natural killer cell	CD56-bright cytokine secreting natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000938	"" []	1138587	\N	\N	EFO	3	EFO	lymphocyte	CD56-bright cytokine secreting natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000938	"" []	2021665	\N	\N	EFO	4	EFO	leukocyte	CD56-bright cytokine secreting natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000938	"" []	3176274	\N	\N	EFO	5	EFO	hematopoietic cell	CD56-bright cytokine secreting natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000938	"" []	4386957	\N	\N	EFO	6	EFO	cell type	CD56-bright cytokine secreting natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000938	"" []	5408060	\N	\N	EFO	7	EFO	material entity	CD56-bright cytokine secreting natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000938	"" []	6147037	\N	\N	EFO	8	EFO	experimental factor	CD56-bright cytokine secreting natural killer cell
CL:0000939	\N	\N	"" []	CL:0000939	"" []	63179	\N	\N	EFO	0	EFO	cytotoxic CD56-dim natural killer cell	cytotoxic CD56-dim natural killer cell
CL:0000824	CL:0000939	\N	"" []	CL:0000939	"" []	202959	\N	\N	EFO	1	EFO	mature natural killer cell	cytotoxic CD56-dim natural killer cell
CL:0000824	CL:0000939	\N	"" []	CL:0000939	"" []	202960	\N	\N	EFO	1	EFO	mature natural killer cell	cytotoxic CD56-dim natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0000939	"" []	555911	\N	\N	EFO	2	EFO	natural killer cell	cytotoxic CD56-dim natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0000939	"" []	555912	\N	\N	EFO	2	EFO	natural killer cell	cytotoxic CD56-dim natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000939	"" []	1138588	\N	\N	EFO	3	EFO	lymphocyte	cytotoxic CD56-dim natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000939	"" []	2021666	\N	\N	EFO	4	EFO	leukocyte	cytotoxic CD56-dim natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000939	"" []	3176275	\N	\N	EFO	5	EFO	hematopoietic cell	cytotoxic CD56-dim natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000939	"" []	4386958	\N	\N	EFO	6	EFO	cell type	cytotoxic CD56-dim natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000939	"" []	5408061	\N	\N	EFO	7	EFO	material entity	cytotoxic CD56-dim natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000939	"" []	6147038	\N	\N	EFO	8	EFO	experimental factor	cytotoxic CD56-dim natural killer cell
CL:0000940	\N	\N	"" []	CL:0000940	"" []	63180	\N	\N	EFO	0	EFO	mucosal invariant T cell	mucosal invariant T cell
CL:0000791	CL:0000940	\N	"" []	CL:0000940	"" []	202961	\N	\N	EFO	1	EFO	mature alpha-beta T cell	mucosal invariant T cell
CL:0000791	CL:0000940	\N	"" []	CL:0000940	"" []	202962	\N	\N	EFO	1	EFO	mature alpha-beta T cell	mucosal invariant T cell
CL:0002127	CL:0000940	\N	"" []	CL:0000940	"" []	202963	\N	\N	EFO	1	EFO	innate effector T cell	mucosal invariant T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000940	"" []	555913	\N	\N	EFO	2	EFO	alpha-beta T cell	mucosal invariant T cell
CL:0000789	CL:0000791	\N	"" []	CL:0000940	"" []	555914	\N	\N	EFO	2	EFO	alpha-beta T cell	mucosal invariant T cell
CL:0002419	CL:0000791	\N	"" []	CL:0000940	"" []	555915	\N	\N	EFO	2	EFO	mature T cell	mucosal invariant T cell
CL:0000911	CL:0002127	\N	"" []	CL:0000940	"" []	555916	\N	\N	EFO	2	EFO	effector T cell	mucosal invariant T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000940	"" []	1138589	\N	\N	EFO	3	EFO	T cell	mucosal invariant T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000940	"" []	1138590	\N	\N	EFO	3	EFO	T cell	mucosal invariant T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0000940	"" []	2021669	\N	\N	EFO	4	EFO	T cell	mucosal invariant T cell
CL:0002419	CL:0000911	\N	"" []	CL:0000940	"" []	1138592	\N	\N	EFO	3	EFO	mature T cell	mucosal invariant T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000940	"" []	2021667	\N	\N	EFO	4	EFO	lymphocyte	mucosal invariant T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000940	"" []	2999182	\N	\N	EFO	5	EFO	lymphocyte	mucosal invariant T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000940	"" []	3176276	\N	\N	EFO	5	EFO	leukocyte	mucosal invariant T cell
CL:0002087	CL:0000542	\N	"" []	CL:0000940	"" []	4132432	\N	\N	EFO	6	EFO	nongranular leukocyte	mucosal invariant T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000940	"" []	4386959	\N	\N	EFO	6	EFO	hematopoietic cell	mucosal invariant T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000940	"" []	5180823	\N	\N	EFO	7	EFO	leukocyte	mucosal invariant T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000940	"" []	5408062	\N	\N	EFO	7	EFO	cell type	mucosal invariant T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000940	"" []	5996508	\N	\N	EFO	8	EFO	hematopoietic cell	mucosal invariant T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000940	"" []	6147039	\N	\N	EFO	8	EFO	material entity	mucosal invariant T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000940	"" []	6550336	\N	\N	EFO	9	EFO	somatic cell	mucosal invariant T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000940	"" []	6631607	\N	\N	EFO	9	EFO	experimental factor	mucosal invariant T cell
CL:0000941	\N	\N	"" []	CL:0000941	"" []	63181	\N	\N	EFO	0	EFO	thymic conventional dendritic cell	thymic conventional dendritic cell
CL:0000990	CL:0000941	\N	"" []	CL:0000941	"" []	202964	\N	\N	EFO	1	EFO	conventional dendritic cell	thymic conventional dendritic cell
CL:0000990	CL:0000941	\N	"" []	CL:0000941	"" []	202965	\N	\N	EFO	1	EFO	conventional dendritic cell	thymic conventional dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000941	"" []	555917	\N	\N	EFO	2	EFO	dendritic cell	thymic conventional dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000941	"" []	555918	\N	\N	EFO	2	EFO	dendritic cell	thymic conventional dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000941	"" []	1138593	\N	\N	EFO	3	EFO	leukocyte	thymic conventional dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000941	"" []	1138594	\N	\N	EFO	3	EFO	leukocyte	thymic conventional dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000941	"" []	2021670	\N	\N	EFO	4	EFO	hematopoietic cell	thymic conventional dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000941	"" []	2021671	\N	\N	EFO	4	EFO	hematopoietic cell	thymic conventional dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000941	"" []	3176278	\N	\N	EFO	5	EFO	cell type	thymic conventional dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000941	"" []	3176279	\N	\N	EFO	5	EFO	somatic cell	thymic conventional dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000941	"" []	4386961	\N	\N	EFO	6	EFO	material entity	thymic conventional dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000941	"" []	5408064	\N	\N	EFO	7	EFO	experimental factor	thymic conventional dendritic cell
CL:0000942	\N	\N	"" []	CL:0000942	"" []	63182	\N	\N	EFO	0	EFO	thymic plasmacytoid dendritic cell	thymic plasmacytoid dendritic cell
CL:0000784	CL:0000942	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000942	"" []	202966	\N	\N	EFO	1	EFO	plasmacytoid dendritic cell	thymic plasmacytoid dendritic cell
CL:0000784	CL:0000942	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000942	"" []	202967	\N	\N	EFO	1	EFO	plasmacytoid dendritic cell	thymic plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000942	"" []	555919	\N	\N	EFO	2	EFO	dendritic cell	thymic plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000942	"" []	555920	\N	\N	EFO	2	EFO	dendritic cell	thymic plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000942	"" []	1138595	\N	\N	EFO	3	EFO	leukocyte	thymic plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000942	"" []	1138596	\N	\N	EFO	3	EFO	leukocyte	thymic plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000942	"" []	2021672	\N	\N	EFO	4	EFO	hematopoietic cell	thymic plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000942	"" []	2021673	\N	\N	EFO	4	EFO	hematopoietic cell	thymic plasmacytoid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000942	"" []	3176280	\N	\N	EFO	5	EFO	cell type	thymic plasmacytoid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000942	"" []	3176281	\N	\N	EFO	5	EFO	somatic cell	thymic plasmacytoid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000942	"" []	4386962	\N	\N	EFO	6	EFO	material entity	thymic plasmacytoid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000942	"" []	5408065	\N	\N	EFO	7	EFO	experimental factor	thymic plasmacytoid dendritic cell
CL:0000943	\N	\N	"" []	CL:0000943	"" []	63183	\N	\N	EFO	0	EFO	Be1 Cell	Be1 Cell
CL:0000968	CL:0000943	\N	"" []	CL:0000943	"" []	202968	\N	\N	EFO	1	EFO	Be cell	Be1 Cell
CL:0000968	CL:0000943	\N	"" []	CL:0000943	"" []	202969	\N	\N	EFO	1	EFO	Be cell	Be1 Cell
CL:0000785	CL:0000968	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000943	"" []	555921	\N	\N	EFO	2	EFO	mature B cell	Be1 Cell
CL:0000785	CL:0000968	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000943	"" []	555922	\N	\N	EFO	2	EFO	mature B cell	Be1 Cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000943	"" []	1138597	\N	\N	EFO	3	EFO	B cell	Be1 Cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000943	"" []	1138598	\N	\N	EFO	3	EFO	B cell	Be1 Cell
CL:0000945	CL:0000236	\N	"" []	CL:0000943	"" []	2021674	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Be1 Cell
CL:0000945	CL:0000236	\N	"" []	CL:0000943	"" []	2021675	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Be1 Cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000943	"" []	3176282	\N	\N	EFO	5	EFO	lymphocyte	Be1 Cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000943	"" []	3176283	\N	\N	EFO	5	EFO	lymphocyte	Be1 Cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000943	"" []	4386963	\N	\N	EFO	6	EFO	leukocyte	Be1 Cell
CL:0002087	CL:0000542	\N	"" []	CL:0000943	"" []	4386964	\N	\N	EFO	6	EFO	nongranular leukocyte	Be1 Cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000943	"" []	5408066	\N	\N	EFO	7	EFO	hematopoietic cell	Be1 Cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000943	"" []	5408067	\N	\N	EFO	7	EFO	leukocyte	Be1 Cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000943	"" []	6147041	\N	\N	EFO	8	EFO	cell type	Be1 Cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000943	"" []	6147042	\N	\N	EFO	8	EFO	hematopoietic cell	Be1 Cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000943	"" []	6631608	\N	\N	EFO	9	EFO	material entity	Be1 Cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000943	"" []	6631609	\N	\N	EFO	9	EFO	somatic cell	Be1 Cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000943	"" []	6925186	\N	\N	EFO	10	EFO	experimental factor	Be1 Cell
CL:0000944	\N	\N	"" []	CL:0000944	"" []	63184	\N	\N	EFO	0	EFO	Be2 cell	Be2 cell
CL:0000968	CL:0000944	\N	"" []	CL:0000944	"" []	202970	\N	\N	EFO	1	EFO	Be cell	Be2 cell
CL:0000968	CL:0000944	\N	"" []	CL:0000944	"" []	202971	\N	\N	EFO	1	EFO	Be cell	Be2 cell
CL:0000785	CL:0000968	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000944	"" []	555923	\N	\N	EFO	2	EFO	mature B cell	Be2 cell
CL:0000785	CL:0000968	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000944	"" []	555924	\N	\N	EFO	2	EFO	mature B cell	Be2 cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000944	"" []	1138599	\N	\N	EFO	3	EFO	B cell	Be2 cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000944	"" []	1138600	\N	\N	EFO	3	EFO	B cell	Be2 cell
CL:0000945	CL:0000236	\N	"" []	CL:0000944	"" []	2021676	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Be2 cell
CL:0000945	CL:0000236	\N	"" []	CL:0000944	"" []	2021677	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Be2 cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000944	"" []	3176284	\N	\N	EFO	5	EFO	lymphocyte	Be2 cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000944	"" []	3176285	\N	\N	EFO	5	EFO	lymphocyte	Be2 cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000944	"" []	4386965	\N	\N	EFO	6	EFO	leukocyte	Be2 cell
CL:0002087	CL:0000542	\N	"" []	CL:0000944	"" []	4386966	\N	\N	EFO	6	EFO	nongranular leukocyte	Be2 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000944	"" []	5408068	\N	\N	EFO	7	EFO	hematopoietic cell	Be2 cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000944	"" []	5408069	\N	\N	EFO	7	EFO	leukocyte	Be2 cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000944	"" []	6147043	\N	\N	EFO	8	EFO	cell type	Be2 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000944	"" []	6147044	\N	\N	EFO	8	EFO	hematopoietic cell	Be2 cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000944	"" []	6631610	\N	\N	EFO	9	EFO	material entity	Be2 cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000944	"" []	6631611	\N	\N	EFO	9	EFO	somatic cell	Be2 cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000944	"" []	6925187	\N	\N	EFO	10	EFO	experimental factor	Be2 cell
CL:0000945	\N	\N	"" []	CL:0000945	"" []	63185	\N	\N	EFO	0	EFO	lymphocyte of B lineage	lymphocyte of B lineage
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000945	"" []	202972	\N	\N	EFO	1	EFO	lymphocyte	lymphocyte of B lineage
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000945	"" []	202973	\N	\N	EFO	1	EFO	lymphocyte	lymphocyte of B lineage
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000945	"" []	555925	\N	\N	EFO	2	EFO	leukocyte	lymphocyte of B lineage
CL:0002087	CL:0000542	\N	"" []	CL:0000945	"" []	555926	\N	\N	EFO	2	EFO	nongranular leukocyte	lymphocyte of B lineage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000945	"" []	1138601	\N	\N	EFO	3	EFO	hematopoietic cell	lymphocyte of B lineage
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000945	"" []	1138602	\N	\N	EFO	3	EFO	leukocyte	lymphocyte of B lineage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000945	"" []	2021678	\N	\N	EFO	4	EFO	cell type	lymphocyte of B lineage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000945	"" []	2021679	\N	\N	EFO	4	EFO	hematopoietic cell	lymphocyte of B lineage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000945	"" []	3176286	\N	\N	EFO	5	EFO	material entity	lymphocyte of B lineage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000945	"" []	3176287	\N	\N	EFO	5	EFO	somatic cell	lymphocyte of B lineage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000945	"" []	4386967	\N	\N	EFO	6	EFO	experimental factor	lymphocyte of B lineage
CL:0000946	\N	\N	"" []	CL:0000946	"" []	63186	\N	\N	EFO	0	EFO	antibody secreting cell	antibody secreting cell
CL:0000945	CL:0000946	\N	"" []	CL:0000946	"" []	202974	\N	\N	EFO	1	EFO	lymphocyte of B lineage	antibody secreting cell
CL:0000945	CL:0000946	\N	"" []	CL:0000946	"" []	202975	\N	\N	EFO	1	EFO	lymphocyte of B lineage	antibody secreting cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000946	"" []	555927	\N	\N	EFO	2	EFO	lymphocyte	antibody secreting cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000946	"" []	555928	\N	\N	EFO	2	EFO	lymphocyte	antibody secreting cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000946	"" []	1138603	\N	\N	EFO	3	EFO	leukocyte	antibody secreting cell
CL:0002087	CL:0000542	\N	"" []	CL:0000946	"" []	1138604	\N	\N	EFO	3	EFO	nongranular leukocyte	antibody secreting cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000946	"" []	2021680	\N	\N	EFO	4	EFO	hematopoietic cell	antibody secreting cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000946	"" []	2021681	\N	\N	EFO	4	EFO	leukocyte	antibody secreting cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000946	"" []	3176288	\N	\N	EFO	5	EFO	cell type	antibody secreting cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000946	"" []	3176289	\N	\N	EFO	5	EFO	hematopoietic cell	antibody secreting cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000946	"" []	4386968	\N	\N	EFO	6	EFO	material entity	antibody secreting cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000946	"" []	4386969	\N	\N	EFO	6	EFO	somatic cell	antibody secreting cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000946	"" []	5408070	\N	\N	EFO	7	EFO	experimental factor	antibody secreting cell
CL:0000947	\N	\N	"" []	CL:0000947	"" []	63187	\N	\N	EFO	0	EFO	IgE plasma cell	IgE plasma cell
CL:0000974	CL:0000947	\N	"" []	CL:0000947	"" []	202976	\N	\N	EFO	1	EFO	long lived plasma cell	IgE plasma cell
CL:0000974	CL:0000947	\N	"" []	CL:0000947	"" []	202977	\N	\N	EFO	1	EFO	long lived plasma cell	IgE plasma cell
CL:0000786	CL:0000974	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000947	"" []	555929	\N	\N	EFO	2	EFO	plasma cell	IgE plasma cell
CL:0000786	CL:0000974	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000947	"" []	555930	\N	\N	EFO	2	EFO	plasma cell	IgE plasma cell
CL:0000151	CL:0000786	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000947	"" []	1138605	\N	\N	EFO	3	EFO	secretory cell	IgE plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000947	"" []	1138606	\N	\N	EFO	3	EFO	antibody secreting cell	IgE plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000947	"" []	1138607	\N	\N	EFO	3	EFO	antibody secreting cell	IgE plasma cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000947	"" []	2021682	\N	\N	EFO	4	EFO	cell type	IgE plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000947	"" []	2021683	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgE plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000947	"" []	2021684	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgE plasma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000947	"" []	6631612	\N	\N	EFO	9	EFO	material entity	IgE plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000947	"" []	3176291	\N	\N	EFO	5	EFO	lymphocyte	IgE plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000947	"" []	3176292	\N	\N	EFO	5	EFO	lymphocyte	IgE plasma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000947	"" []	6778575	\N	\N	EFO	10	EFO	experimental factor	IgE plasma cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000947	"" []	4386971	\N	\N	EFO	6	EFO	leukocyte	IgE plasma cell
CL:0002087	CL:0000542	\N	"" []	CL:0000947	"" []	4386972	\N	\N	EFO	6	EFO	nongranular leukocyte	IgE plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000947	"" []	5408071	\N	\N	EFO	7	EFO	hematopoietic cell	IgE plasma cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000947	"" []	5408072	\N	\N	EFO	7	EFO	leukocyte	IgE plasma cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000947	"" []	6147045	\N	\N	EFO	8	EFO	cell type	IgE plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000947	"" []	6147046	\N	\N	EFO	8	EFO	hematopoietic cell	IgE plasma cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000947	"" []	6631613	\N	\N	EFO	9	EFO	somatic cell	IgE plasma cell
CL:0000948	\N	\N	"" []	CL:0000948	"" []	63188	\N	\N	EFO	0	EFO	IgE memory B cell	IgE memory B cell
CL:0000972	CL:0000948	\N	"" []	CL:0000948	"" []	202978	\N	\N	EFO	1	EFO	class switched memory B cell	IgE memory B cell
CL:0000972	CL:0000948	\N	"" []	CL:0000948	"" []	202979	\N	\N	EFO	1	EFO	class switched memory B cell	IgE memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0000948	"" []	555931	\N	\N	EFO	2	EFO	memory B cell	IgE memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0000948	"" []	555932	\N	\N	EFO	2	EFO	memory B cell	IgE memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000948	"" []	1138608	\N	\N	EFO	3	EFO	mature B cell	IgE memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000948	"" []	1138609	\N	\N	EFO	3	EFO	mature B cell	IgE memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000948	"" []	2021685	\N	\N	EFO	4	EFO	B cell	IgE memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000948	"" []	2021686	\N	\N	EFO	4	EFO	B cell	IgE memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000948	"" []	3176293	\N	\N	EFO	5	EFO	lymphocyte of B lineage	IgE memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000948	"" []	3176294	\N	\N	EFO	5	EFO	lymphocyte of B lineage	IgE memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000948	"" []	4386973	\N	\N	EFO	6	EFO	lymphocyte	IgE memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000948	"" []	4386974	\N	\N	EFO	6	EFO	lymphocyte	IgE memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000948	"" []	5408073	\N	\N	EFO	7	EFO	leukocyte	IgE memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000948	"" []	5408074	\N	\N	EFO	7	EFO	nongranular leukocyte	IgE memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000948	"" []	6147047	\N	\N	EFO	8	EFO	hematopoietic cell	IgE memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000948	"" []	6147048	\N	\N	EFO	8	EFO	leukocyte	IgE memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000948	"" []	6631614	\N	\N	EFO	9	EFO	cell type	IgE memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000948	"" []	6631615	\N	\N	EFO	9	EFO	hematopoietic cell	IgE memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000948	"" []	6925188	\N	\N	EFO	10	EFO	material entity	IgE memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000948	"" []	6925189	\N	\N	EFO	10	EFO	somatic cell	IgE memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000948	"" []	7098939	\N	\N	EFO	11	EFO	experimental factor	IgE memory B cell
CL:0000949	\N	\N	"" []	CL:0000949	"" []	63189	\N	\N	EFO	0	EFO	IgD plasmablast	IgD plasmablast
CL:0000980	CL:0000949	\N	"" []	CL:0000949	"" []	202980	\N	\N	EFO	1	EFO	plasmablast	IgD plasmablast
CL:0000980	CL:0000949	\N	"" []	CL:0000949	"" []	202981	\N	\N	EFO	1	EFO	plasmablast	IgD plasmablast
CL:0000785	CL:0000980	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000949	"" []	555933	\N	\N	EFO	2	EFO	mature B cell	IgD plasmablast
CL:0000785	CL:0000980	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000949	"" []	555934	\N	\N	EFO	2	EFO	mature B cell	IgD plasmablast
CL:0000946	CL:0000980	\N	"" []	CL:0000949	"" []	555935	\N	\N	EFO	2	EFO	antibody secreting cell	IgD plasmablast
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000949	"" []	1138610	\N	\N	EFO	3	EFO	B cell	IgD plasmablast
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000949	"" []	1138611	\N	\N	EFO	3	EFO	B cell	IgD plasmablast
CL:0000945	CL:0000946	\N	"" []	CL:0000949	"" []	1138612	\N	\N	EFO	3	EFO	lymphocyte of B lineage	IgD plasmablast
CL:0000945	CL:0000236	\N	"" []	CL:0000949	"" []	2021687	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgD plasmablast
CL:0000945	CL:0000236	\N	"" []	CL:0000949	"" []	2021688	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgD plasmablast
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000949	"" []	3176296	\N	\N	EFO	5	EFO	lymphocyte	IgD plasmablast
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000949	"" []	3176295	\N	\N	EFO	5	EFO	lymphocyte	IgD plasmablast
CL:0002087	CL:0000542	\N	"" []	CL:0000949	"" []	4132433	\N	\N	EFO	6	EFO	nongranular leukocyte	IgD plasmablast
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000949	"" []	4386975	\N	\N	EFO	6	EFO	leukocyte	IgD plasmablast
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000949	"" []	5180824	\N	\N	EFO	7	EFO	leukocyte	IgD plasmablast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000949	"" []	5408075	\N	\N	EFO	7	EFO	hematopoietic cell	IgD plasmablast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000949	"" []	5996509	\N	\N	EFO	8	EFO	hematopoietic cell	IgD plasmablast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000949	"" []	6147049	\N	\N	EFO	8	EFO	cell type	IgD plasmablast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000949	"" []	6550337	\N	\N	EFO	9	EFO	somatic cell	IgD plasmablast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000949	"" []	6631616	\N	\N	EFO	9	EFO	material entity	IgD plasmablast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000949	"" []	6925190	\N	\N	EFO	10	EFO	experimental factor	IgD plasmablast
CL:0000950	\N	\N	"" []	CL:0000950	"" []	63190	\N	\N	EFO	0	EFO	IgE plasmablast	IgE plasmablast
CL:0000980	CL:0000950	\N	"" []	CL:0000950	"" []	202982	\N	\N	EFO	1	EFO	plasmablast	IgE plasmablast
CL:0000980	CL:0000950	\N	"" []	CL:0000950	"" []	202983	\N	\N	EFO	1	EFO	plasmablast	IgE plasmablast
CL:0000785	CL:0000980	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000950	"" []	555936	\N	\N	EFO	2	EFO	mature B cell	IgE plasmablast
CL:0000785	CL:0000980	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000950	"" []	555937	\N	\N	EFO	2	EFO	mature B cell	IgE plasmablast
CL:0000946	CL:0000980	\N	"" []	CL:0000950	"" []	555938	\N	\N	EFO	2	EFO	antibody secreting cell	IgE plasmablast
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000950	"" []	1138613	\N	\N	EFO	3	EFO	B cell	IgE plasmablast
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000950	"" []	1138614	\N	\N	EFO	3	EFO	B cell	IgE plasmablast
CL:0000945	CL:0000946	\N	"" []	CL:0000950	"" []	1138615	\N	\N	EFO	3	EFO	lymphocyte of B lineage	IgE plasmablast
CL:0000945	CL:0000236	\N	"" []	CL:0000950	"" []	2021690	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgE plasmablast
CL:0000945	CL:0000236	\N	"" []	CL:0000950	"" []	2021691	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgE plasmablast
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000950	"" []	3176299	\N	\N	EFO	5	EFO	lymphocyte	IgE plasmablast
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000950	"" []	3176298	\N	\N	EFO	5	EFO	lymphocyte	IgE plasmablast
CL:0002087	CL:0000542	\N	"" []	CL:0000950	"" []	4132434	\N	\N	EFO	6	EFO	nongranular leukocyte	IgE plasmablast
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000950	"" []	4386977	\N	\N	EFO	6	EFO	leukocyte	IgE plasmablast
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000950	"" []	5180825	\N	\N	EFO	7	EFO	leukocyte	IgE plasmablast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000950	"" []	5408077	\N	\N	EFO	7	EFO	hematopoietic cell	IgE plasmablast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000950	"" []	5996510	\N	\N	EFO	8	EFO	hematopoietic cell	IgE plasmablast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000950	"" []	6147051	\N	\N	EFO	8	EFO	cell type	IgE plasmablast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000950	"" []	6550338	\N	\N	EFO	9	EFO	somatic cell	IgE plasmablast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000950	"" []	6631617	\N	\N	EFO	9	EFO	material entity	IgE plasmablast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000950	"" []	6925191	\N	\N	EFO	10	EFO	experimental factor	IgE plasmablast
CL:0000951	\N	\N	"" []	CL:0000951	"" []	63191	\N	\N	EFO	0	EFO	IgE short lived plasma cell	IgE short lived plasma cell
CL:0000975	CL:0000951	\N	"" []	CL:0000951	"" []	202984	\N	\N	EFO	1	EFO	short lived plasma cell	IgE short lived plasma cell
CL:0000975	CL:0000951	\N	"" []	CL:0000951	"" []	202985	\N	\N	EFO	1	EFO	short lived plasma cell	IgE short lived plasma cell
CL:0000786	CL:0000975	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000951	"" []	555939	\N	\N	EFO	2	EFO	plasma cell	IgE short lived plasma cell
CL:0000786	CL:0000975	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000951	"" []	555940	\N	\N	EFO	2	EFO	plasma cell	IgE short lived plasma cell
CL:0000151	CL:0000786	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000951	"" []	1138616	\N	\N	EFO	3	EFO	secretory cell	IgE short lived plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000951	"" []	1138617	\N	\N	EFO	3	EFO	antibody secreting cell	IgE short lived plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000951	"" []	1138618	\N	\N	EFO	3	EFO	antibody secreting cell	IgE short lived plasma cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000951	"" []	2021693	\N	\N	EFO	4	EFO	cell type	IgE short lived plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000951	"" []	2021694	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgE short lived plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000951	"" []	2021695	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgE short lived plasma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000951	"" []	6631618	\N	\N	EFO	9	EFO	material entity	IgE short lived plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000951	"" []	3176302	\N	\N	EFO	5	EFO	lymphocyte	IgE short lived plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000951	"" []	3176303	\N	\N	EFO	5	EFO	lymphocyte	IgE short lived plasma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000951	"" []	6778576	\N	\N	EFO	10	EFO	experimental factor	IgE short lived plasma cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000951	"" []	4386980	\N	\N	EFO	6	EFO	leukocyte	IgE short lived plasma cell
CL:0002087	CL:0000542	\N	"" []	CL:0000951	"" []	4386981	\N	\N	EFO	6	EFO	nongranular leukocyte	IgE short lived plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000951	"" []	5408079	\N	\N	EFO	7	EFO	hematopoietic cell	IgE short lived plasma cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000951	"" []	5408080	\N	\N	EFO	7	EFO	leukocyte	IgE short lived plasma cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000951	"" []	6147053	\N	\N	EFO	8	EFO	cell type	IgE short lived plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000951	"" []	6147054	\N	\N	EFO	8	EFO	hematopoietic cell	IgE short lived plasma cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000951	"" []	6631619	\N	\N	EFO	9	EFO	somatic cell	IgE short lived plasma cell
CL:0000952	\N	\N	"" []	CL:0000952	"" []	63192	\N	\N	EFO	0	EFO	preBCR-positive large pre-B-II cell	preBCR-positive large pre-B-II cell
CL:0000957	CL:0000952	\N	"" []	CL:0000952	"" []	202986	\N	\N	EFO	1	EFO	large pre-B-II cell	preBCR-positive large pre-B-II cell
CL:0000957	CL:0000952	\N	"" []	CL:0000952	"" []	202987	\N	\N	EFO	1	EFO	large pre-B-II cell	preBCR-positive large pre-B-II cell
CL:0000955	CL:0000957	\N	"" []	CL:0000952	"" []	555941	\N	\N	EFO	2	EFO	pre-B-II cell	preBCR-positive large pre-B-II cell
CL:0000955	CL:0000957	\N	"" []	CL:0000952	"" []	555942	\N	\N	EFO	2	EFO	pre-B-II cell	preBCR-positive large pre-B-II cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000952	"" []	1138619	\N	\N	EFO	3	EFO	precursor B cell	preBCR-positive large pre-B-II cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000952	"" []	1138620	\N	\N	EFO	3	EFO	precursor B cell	preBCR-positive large pre-B-II cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000952	"" []	2021696	\N	\N	EFO	4	EFO	B cell	preBCR-positive large pre-B-II cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000952	"" []	2021697	\N	\N	EFO	4	EFO	B cell	preBCR-positive large pre-B-II cell
CL:0000945	CL:0000236	\N	"" []	CL:0000952	"" []	3176304	\N	\N	EFO	5	EFO	lymphocyte of B lineage	preBCR-positive large pre-B-II cell
CL:0000945	CL:0000236	\N	"" []	CL:0000952	"" []	3176305	\N	\N	EFO	5	EFO	lymphocyte of B lineage	preBCR-positive large pre-B-II cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000952	"" []	4386982	\N	\N	EFO	6	EFO	lymphocyte	preBCR-positive large pre-B-II cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000952	"" []	4386983	\N	\N	EFO	6	EFO	lymphocyte	preBCR-positive large pre-B-II cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000952	"" []	5408081	\N	\N	EFO	7	EFO	leukocyte	preBCR-positive large pre-B-II cell
CL:0002087	CL:0000542	\N	"" []	CL:0000952	"" []	5408082	\N	\N	EFO	7	EFO	nongranular leukocyte	preBCR-positive large pre-B-II cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000952	"" []	6147055	\N	\N	EFO	8	EFO	hematopoietic cell	preBCR-positive large pre-B-II cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000952	"" []	6147056	\N	\N	EFO	8	EFO	leukocyte	preBCR-positive large pre-B-II cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000952	"" []	6631620	\N	\N	EFO	9	EFO	cell type	preBCR-positive large pre-B-II cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000952	"" []	6631621	\N	\N	EFO	9	EFO	hematopoietic cell	preBCR-positive large pre-B-II cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000952	"" []	6925192	\N	\N	EFO	10	EFO	material entity	preBCR-positive large pre-B-II cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000952	"" []	6925193	\N	\N	EFO	10	EFO	somatic cell	preBCR-positive large pre-B-II cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000952	"" []	7098940	\N	\N	EFO	11	EFO	experimental factor	preBCR-positive large pre-B-II cell
CL:0000953	\N	\N	"" []	CL:0000953	"" []	63193	\N	\N	EFO	0	EFO	preBCR-negative large pre-B-II cell	preBCR-negative large pre-B-II cell
CL:0000957	CL:0000953	\N	"" []	CL:0000953	"" []	202988	\N	\N	EFO	1	EFO	large pre-B-II cell	preBCR-negative large pre-B-II cell
CL:0000957	CL:0000953	\N	"" []	CL:0000953	"" []	202989	\N	\N	EFO	1	EFO	large pre-B-II cell	preBCR-negative large pre-B-II cell
CL:0000955	CL:0000957	\N	"" []	CL:0000953	"" []	555943	\N	\N	EFO	2	EFO	pre-B-II cell	preBCR-negative large pre-B-II cell
CL:0000955	CL:0000957	\N	"" []	CL:0000953	"" []	555944	\N	\N	EFO	2	EFO	pre-B-II cell	preBCR-negative large pre-B-II cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000953	"" []	1138621	\N	\N	EFO	3	EFO	precursor B cell	preBCR-negative large pre-B-II cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000953	"" []	1138622	\N	\N	EFO	3	EFO	precursor B cell	preBCR-negative large pre-B-II cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000953	"" []	2021698	\N	\N	EFO	4	EFO	B cell	preBCR-negative large pre-B-II cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000953	"" []	2021699	\N	\N	EFO	4	EFO	B cell	preBCR-negative large pre-B-II cell
CL:0000945	CL:0000236	\N	"" []	CL:0000953	"" []	3176306	\N	\N	EFO	5	EFO	lymphocyte of B lineage	preBCR-negative large pre-B-II cell
CL:0000945	CL:0000236	\N	"" []	CL:0000953	"" []	3176307	\N	\N	EFO	5	EFO	lymphocyte of B lineage	preBCR-negative large pre-B-II cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000953	"" []	4386984	\N	\N	EFO	6	EFO	lymphocyte	preBCR-negative large pre-B-II cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000953	"" []	4386985	\N	\N	EFO	6	EFO	lymphocyte	preBCR-negative large pre-B-II cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000953	"" []	5408083	\N	\N	EFO	7	EFO	leukocyte	preBCR-negative large pre-B-II cell
CL:0002087	CL:0000542	\N	"" []	CL:0000953	"" []	5408084	\N	\N	EFO	7	EFO	nongranular leukocyte	preBCR-negative large pre-B-II cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000953	"" []	6147057	\N	\N	EFO	8	EFO	hematopoietic cell	preBCR-negative large pre-B-II cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000953	"" []	6147058	\N	\N	EFO	8	EFO	leukocyte	preBCR-negative large pre-B-II cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000953	"" []	6631622	\N	\N	EFO	9	EFO	cell type	preBCR-negative large pre-B-II cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000953	"" []	6631623	\N	\N	EFO	9	EFO	hematopoietic cell	preBCR-negative large pre-B-II cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000953	"" []	6925194	\N	\N	EFO	10	EFO	material entity	preBCR-negative large pre-B-II cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000953	"" []	6925195	\N	\N	EFO	10	EFO	somatic cell	preBCR-negative large pre-B-II cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000953	"" []	7098941	\N	\N	EFO	11	EFO	experimental factor	preBCR-negative large pre-B-II cell
CL:0000954	\N	\N	"" []	CL:0000954	"" []	63194	\N	\N	EFO	0	EFO	small pre-B-II cell	small pre-B-II cell
CL:0000955	CL:0000954	\N	"" []	CL:0000954	"" []	202990	\N	\N	EFO	1	EFO	pre-B-II cell	small pre-B-II cell
CL:0000955	CL:0000954	\N	"" []	CL:0000954	"" []	202991	\N	\N	EFO	1	EFO	pre-B-II cell	small pre-B-II cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000954	"" []	555945	\N	\N	EFO	2	EFO	precursor B cell	small pre-B-II cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000954	"" []	555946	\N	\N	EFO	2	EFO	precursor B cell	small pre-B-II cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000954	"" []	1138623	\N	\N	EFO	3	EFO	B cell	small pre-B-II cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000954	"" []	1138624	\N	\N	EFO	3	EFO	B cell	small pre-B-II cell
CL:0000945	CL:0000236	\N	"" []	CL:0000954	"" []	2021700	\N	\N	EFO	4	EFO	lymphocyte of B lineage	small pre-B-II cell
CL:0000945	CL:0000236	\N	"" []	CL:0000954	"" []	2021701	\N	\N	EFO	4	EFO	lymphocyte of B lineage	small pre-B-II cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000954	"" []	3176308	\N	\N	EFO	5	EFO	lymphocyte	small pre-B-II cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000954	"" []	3176309	\N	\N	EFO	5	EFO	lymphocyte	small pre-B-II cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000954	"" []	4386986	\N	\N	EFO	6	EFO	leukocyte	small pre-B-II cell
CL:0002087	CL:0000542	\N	"" []	CL:0000954	"" []	4386987	\N	\N	EFO	6	EFO	nongranular leukocyte	small pre-B-II cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000954	"" []	5408085	\N	\N	EFO	7	EFO	hematopoietic cell	small pre-B-II cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000954	"" []	5408086	\N	\N	EFO	7	EFO	leukocyte	small pre-B-II cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000954	"" []	6147059	\N	\N	EFO	8	EFO	cell type	small pre-B-II cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000954	"" []	6147060	\N	\N	EFO	8	EFO	hematopoietic cell	small pre-B-II cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000954	"" []	6631624	\N	\N	EFO	9	EFO	material entity	small pre-B-II cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000954	"" []	6631625	\N	\N	EFO	9	EFO	somatic cell	small pre-B-II cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000954	"" []	6925196	\N	\N	EFO	10	EFO	experimental factor	small pre-B-II cell
CL:0000955	\N	\N	"" []	CL:0000955	"" []	63195	\N	\N	EFO	0	EFO	pre-B-II cell	pre-B-II cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000955	"" []	202992	\N	\N	EFO	1	EFO	precursor B cell	pre-B-II cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000955	"" []	202993	\N	\N	EFO	1	EFO	precursor B cell	pre-B-II cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000955	"" []	555947	\N	\N	EFO	2	EFO	B cell	pre-B-II cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000955	"" []	555948	\N	\N	EFO	2	EFO	B cell	pre-B-II cell
CL:0000945	CL:0000236	\N	"" []	CL:0000955	"" []	1138625	\N	\N	EFO	3	EFO	lymphocyte of B lineage	pre-B-II cell
CL:0000945	CL:0000236	\N	"" []	CL:0000955	"" []	1138626	\N	\N	EFO	3	EFO	lymphocyte of B lineage	pre-B-II cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000955	"" []	2021702	\N	\N	EFO	4	EFO	lymphocyte	pre-B-II cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000955	"" []	2021703	\N	\N	EFO	4	EFO	lymphocyte	pre-B-II cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000955	"" []	3176310	\N	\N	EFO	5	EFO	leukocyte	pre-B-II cell
CL:0002087	CL:0000542	\N	"" []	CL:0000955	"" []	3176311	\N	\N	EFO	5	EFO	nongranular leukocyte	pre-B-II cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000955	"" []	4386988	\N	\N	EFO	6	EFO	hematopoietic cell	pre-B-II cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000955	"" []	4386989	\N	\N	EFO	6	EFO	leukocyte	pre-B-II cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000955	"" []	5408087	\N	\N	EFO	7	EFO	cell type	pre-B-II cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000955	"" []	5408088	\N	\N	EFO	7	EFO	hematopoietic cell	pre-B-II cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000955	"" []	6147061	\N	\N	EFO	8	EFO	material entity	pre-B-II cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000955	"" []	6147062	\N	\N	EFO	8	EFO	somatic cell	pre-B-II cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000955	"" []	6631626	\N	\N	EFO	9	EFO	experimental factor	pre-B-II cell
CL:0000956	\N	\N	"" []	CL:0000956	"" []	63196	\N	\N	EFO	0	EFO	pre-B-I cell	pre-B-I cell
CL:0000817	CL:0000956	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000956	"" []	202994	\N	\N	EFO	1	EFO	precursor B cell	pre-B-I cell
CL:0000817	CL:0000956	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000956	"" []	202995	\N	\N	EFO	1	EFO	precursor B cell	pre-B-I cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000956	"" []	555949	\N	\N	EFO	2	EFO	B cell	pre-B-I cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000956	"" []	555950	\N	\N	EFO	2	EFO	B cell	pre-B-I cell
CL:0000945	CL:0000236	\N	"" []	CL:0000956	"" []	1138627	\N	\N	EFO	3	EFO	lymphocyte of B lineage	pre-B-I cell
CL:0000945	CL:0000236	\N	"" []	CL:0000956	"" []	1138628	\N	\N	EFO	3	EFO	lymphocyte of B lineage	pre-B-I cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000956	"" []	2021704	\N	\N	EFO	4	EFO	lymphocyte	pre-B-I cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000956	"" []	2021705	\N	\N	EFO	4	EFO	lymphocyte	pre-B-I cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000956	"" []	3176312	\N	\N	EFO	5	EFO	leukocyte	pre-B-I cell
CL:0002087	CL:0000542	\N	"" []	CL:0000956	"" []	3176313	\N	\N	EFO	5	EFO	nongranular leukocyte	pre-B-I cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000956	"" []	4386990	\N	\N	EFO	6	EFO	hematopoietic cell	pre-B-I cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000956	"" []	4386991	\N	\N	EFO	6	EFO	leukocyte	pre-B-I cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000956	"" []	5408089	\N	\N	EFO	7	EFO	cell type	pre-B-I cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000956	"" []	5408090	\N	\N	EFO	7	EFO	hematopoietic cell	pre-B-I cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000956	"" []	6147063	\N	\N	EFO	8	EFO	material entity	pre-B-I cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000956	"" []	6147064	\N	\N	EFO	8	EFO	somatic cell	pre-B-I cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000956	"" []	6631627	\N	\N	EFO	9	EFO	experimental factor	pre-B-I cell
CL:0000957	\N	\N	"" []	CL:0000957	"" []	63197	\N	\N	EFO	0	EFO	large pre-B-II cell	large pre-B-II cell
CL:0000955	CL:0000957	\N	"" []	CL:0000957	"" []	202996	\N	\N	EFO	1	EFO	pre-B-II cell	large pre-B-II cell
CL:0000955	CL:0000957	\N	"" []	CL:0000957	"" []	202997	\N	\N	EFO	1	EFO	pre-B-II cell	large pre-B-II cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000957	"" []	555951	\N	\N	EFO	2	EFO	precursor B cell	large pre-B-II cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0000957	"" []	555952	\N	\N	EFO	2	EFO	precursor B cell	large pre-B-II cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000957	"" []	1138629	\N	\N	EFO	3	EFO	B cell	large pre-B-II cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000957	"" []	1138630	\N	\N	EFO	3	EFO	B cell	large pre-B-II cell
CL:0000945	CL:0000236	\N	"" []	CL:0000957	"" []	2021706	\N	\N	EFO	4	EFO	lymphocyte of B lineage	large pre-B-II cell
CL:0000945	CL:0000236	\N	"" []	CL:0000957	"" []	2021707	\N	\N	EFO	4	EFO	lymphocyte of B lineage	large pre-B-II cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000957	"" []	3176314	\N	\N	EFO	5	EFO	lymphocyte	large pre-B-II cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000957	"" []	3176315	\N	\N	EFO	5	EFO	lymphocyte	large pre-B-II cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000957	"" []	4386992	\N	\N	EFO	6	EFO	leukocyte	large pre-B-II cell
CL:0002087	CL:0000542	\N	"" []	CL:0000957	"" []	4386993	\N	\N	EFO	6	EFO	nongranular leukocyte	large pre-B-II cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000957	"" []	5408091	\N	\N	EFO	7	EFO	hematopoietic cell	large pre-B-II cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000957	"" []	5408092	\N	\N	EFO	7	EFO	leukocyte	large pre-B-II cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000957	"" []	6147065	\N	\N	EFO	8	EFO	cell type	large pre-B-II cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000957	"" []	6147066	\N	\N	EFO	8	EFO	hematopoietic cell	large pre-B-II cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000957	"" []	6631628	\N	\N	EFO	9	EFO	material entity	large pre-B-II cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000957	"" []	6631629	\N	\N	EFO	9	EFO	somatic cell	large pre-B-II cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000957	"" []	6925197	\N	\N	EFO	10	EFO	experimental factor	large pre-B-II cell
CL:0000958	\N	\N	"" []	CL:0000958	"" []	63198	\N	\N	EFO	0	EFO	T1 B cell	T1 B cell
CL:0000818	CL:0000958	\N	"" []	CL:0000958	"" []	202998	\N	\N	EFO	1	EFO	transitional stage B cell	T1 B cell
CL:0000818	CL:0000958	\N	"" []	CL:0000958	"" []	202999	\N	\N	EFO	1	EFO	transitional stage B cell	T1 B cell
CL:0000236	CL:0000818	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000958	"" []	555953	\N	\N	EFO	2	EFO	B cell	T1 B cell
CL:0000236	CL:0000818	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000958	"" []	555954	\N	\N	EFO	2	EFO	B cell	T1 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000958	"" []	1138631	\N	\N	EFO	3	EFO	lymphocyte of B lineage	T1 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000958	"" []	1138632	\N	\N	EFO	3	EFO	lymphocyte of B lineage	T1 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000958	"" []	2021708	\N	\N	EFO	4	EFO	lymphocyte	T1 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000958	"" []	2021709	\N	\N	EFO	4	EFO	lymphocyte	T1 B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000958	"" []	3176316	\N	\N	EFO	5	EFO	leukocyte	T1 B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000958	"" []	3176317	\N	\N	EFO	5	EFO	nongranular leukocyte	T1 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000958	"" []	4386994	\N	\N	EFO	6	EFO	hematopoietic cell	T1 B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000958	"" []	4386995	\N	\N	EFO	6	EFO	leukocyte	T1 B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000958	"" []	5408093	\N	\N	EFO	7	EFO	cell type	T1 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000958	"" []	5408094	\N	\N	EFO	7	EFO	hematopoietic cell	T1 B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000958	"" []	6147067	\N	\N	EFO	8	EFO	material entity	T1 B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000958	"" []	6147068	\N	\N	EFO	8	EFO	somatic cell	T1 B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000958	"" []	6631630	\N	\N	EFO	9	EFO	experimental factor	T1 B cell
CL:0000959	\N	\N	"" []	CL:0000959	"" []	63199	\N	\N	EFO	0	EFO	T2 B cell	T2 B cell
CL:0000818	CL:0000959	\N	"" []	CL:0000959	"" []	203000	\N	\N	EFO	1	EFO	transitional stage B cell	T2 B cell
CL:0000818	CL:0000959	\N	"" []	CL:0000959	"" []	203001	\N	\N	EFO	1	EFO	transitional stage B cell	T2 B cell
CL:0000236	CL:0000818	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000959	"" []	555955	\N	\N	EFO	2	EFO	B cell	T2 B cell
CL:0000236	CL:0000818	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000959	"" []	555956	\N	\N	EFO	2	EFO	B cell	T2 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000959	"" []	1138633	\N	\N	EFO	3	EFO	lymphocyte of B lineage	T2 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000959	"" []	1138634	\N	\N	EFO	3	EFO	lymphocyte of B lineage	T2 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000959	"" []	2021710	\N	\N	EFO	4	EFO	lymphocyte	T2 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000959	"" []	2021711	\N	\N	EFO	4	EFO	lymphocyte	T2 B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000959	"" []	3176318	\N	\N	EFO	5	EFO	leukocyte	T2 B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000959	"" []	3176319	\N	\N	EFO	5	EFO	nongranular leukocyte	T2 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000959	"" []	4386996	\N	\N	EFO	6	EFO	hematopoietic cell	T2 B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000959	"" []	4386997	\N	\N	EFO	6	EFO	leukocyte	T2 B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000959	"" []	5408095	\N	\N	EFO	7	EFO	cell type	T2 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000959	"" []	5408096	\N	\N	EFO	7	EFO	hematopoietic cell	T2 B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000959	"" []	6147069	\N	\N	EFO	8	EFO	material entity	T2 B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000959	"" []	6147070	\N	\N	EFO	8	EFO	somatic cell	T2 B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000959	"" []	6631631	\N	\N	EFO	9	EFO	experimental factor	T2 B cell
CL:0000960	\N	\N	"" []	CL:0000960	"" []	63200	\N	\N	EFO	0	EFO	T3 B cell	T3 B cell
CL:0000818	CL:0000960	\N	"" []	CL:0000960	"" []	203002	\N	\N	EFO	1	EFO	transitional stage B cell	T3 B cell
CL:0000818	CL:0000960	\N	"" []	CL:0000960	"" []	203003	\N	\N	EFO	1	EFO	transitional stage B cell	T3 B cell
CL:0000236	CL:0000818	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000960	"" []	555957	\N	\N	EFO	2	EFO	B cell	T3 B cell
CL:0000236	CL:0000818	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000960	"" []	555958	\N	\N	EFO	2	EFO	B cell	T3 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000960	"" []	1138635	\N	\N	EFO	3	EFO	lymphocyte of B lineage	T3 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000960	"" []	1138636	\N	\N	EFO	3	EFO	lymphocyte of B lineage	T3 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000960	"" []	2021712	\N	\N	EFO	4	EFO	lymphocyte	T3 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000960	"" []	2021713	\N	\N	EFO	4	EFO	lymphocyte	T3 B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000960	"" []	3176320	\N	\N	EFO	5	EFO	leukocyte	T3 B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000960	"" []	3176321	\N	\N	EFO	5	EFO	nongranular leukocyte	T3 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000960	"" []	4386998	\N	\N	EFO	6	EFO	hematopoietic cell	T3 B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000960	"" []	4386999	\N	\N	EFO	6	EFO	leukocyte	T3 B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000960	"" []	5408097	\N	\N	EFO	7	EFO	cell type	T3 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000960	"" []	5408098	\N	\N	EFO	7	EFO	hematopoietic cell	T3 B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000960	"" []	6147071	\N	\N	EFO	8	EFO	material entity	T3 B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000960	"" []	6147072	\N	\N	EFO	8	EFO	somatic cell	T3 B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000960	"" []	6631632	\N	\N	EFO	9	EFO	experimental factor	T3 B cell
CL:0000961	\N	\N	"" []	CL:0000961	"" []	63201	\N	\N	EFO	0	EFO	Bm1 B cell	Bm1 B cell
CL:0000843	CL:0000961	\N	"" []	CL:0000961	"" []	203004	\N	\N	EFO	1	EFO	follicular B cell	Bm1 B cell
CL:0000843	CL:0000961	\N	"" []	CL:0000961	"" []	203005	\N	\N	EFO	1	EFO	follicular B cell	Bm1 B cell
CL:0002056	CL:0000961	\N	"" []	CL:0000961	"" []	203006	\N	\N	EFO	1	EFO	Fraction F mature B cell	Bm1 B cell
CL:0000785	CL:0000843	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000961	"" []	555959	\N	\N	EFO	2	EFO	mature B cell	Bm1 B cell
CL:0000822	CL:0000843	\N	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	CL:0000961	"" []	555960	\N	\N	EFO	2	EFO	B-2 B cell	Bm1 B cell
CL:0000822	CL:0002056	\N	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	CL:0000961	"" []	555961	\N	\N	EFO	2	EFO	B-2 B cell	Bm1 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000961	"" []	1138637	\N	\N	EFO	3	EFO	B cell	Bm1 B cell
CL:0000785	CL:0000822	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000961	"" []	1138638	\N	\N	EFO	3	EFO	mature B cell	Bm1 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000961	"" []	2021714	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Bm1 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000961	"" []	2021715	\N	\N	EFO	4	EFO	B cell	Bm1 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000961	"" []	3176322	\N	\N	EFO	5	EFO	lymphocyte	Bm1 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000961	"" []	3176323	\N	\N	EFO	5	EFO	lymphocyte of B lineage	Bm1 B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000961	"" []	4387000	\N	\N	EFO	6	EFO	leukocyte	Bm1 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000961	"" []	4387001	\N	\N	EFO	6	EFO	lymphocyte	Bm1 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000961	"" []	5408099	\N	\N	EFO	7	EFO	hematopoietic cell	Bm1 B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000961	"" []	5408100	\N	\N	EFO	7	EFO	nongranular leukocyte	Bm1 B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000961	"" []	6147073	\N	\N	EFO	8	EFO	cell type	Bm1 B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000961	"" []	6147074	\N	\N	EFO	8	EFO	leukocyte	Bm1 B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000961	"" []	6631633	\N	\N	EFO	9	EFO	material entity	Bm1 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000961	"" []	6631634	\N	\N	EFO	9	EFO	hematopoietic cell	Bm1 B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000961	"" []	6925198	\N	\N	EFO	10	EFO	experimental factor	Bm1 B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000961	"" []	6925199	\N	\N	EFO	10	EFO	somatic cell	Bm1 B cell
CL:0000962	\N	\N	"" []	CL:0000962	"" []	63202	\N	\N	EFO	0	EFO	Bm2 B cell	Bm2 B cell
CL:0000843	CL:0000962	\N	"" []	CL:0000962	"" []	203007	\N	\N	EFO	1	EFO	follicular B cell	Bm2 B cell
CL:0000843	CL:0000962	\N	"" []	CL:0000962	"" []	203008	\N	\N	EFO	1	EFO	follicular B cell	Bm2 B cell
CL:0000785	CL:0000843	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000962	"" []	555962	\N	\N	EFO	2	EFO	mature B cell	Bm2 B cell
CL:0000822	CL:0000843	\N	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	CL:0000962	"" []	555963	\N	\N	EFO	2	EFO	B-2 B cell	Bm2 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000962	"" []	1138639	\N	\N	EFO	3	EFO	B cell	Bm2 B cell
CL:0000785	CL:0000822	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000962	"" []	1138640	\N	\N	EFO	3	EFO	mature B cell	Bm2 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000962	"" []	2021716	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Bm2 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000962	"" []	2021717	\N	\N	EFO	4	EFO	B cell	Bm2 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000962	"" []	3176324	\N	\N	EFO	5	EFO	lymphocyte	Bm2 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000962	"" []	3176325	\N	\N	EFO	5	EFO	lymphocyte of B lineage	Bm2 B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000962	"" []	4387002	\N	\N	EFO	6	EFO	leukocyte	Bm2 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000962	"" []	4387003	\N	\N	EFO	6	EFO	lymphocyte	Bm2 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000962	"" []	5408101	\N	\N	EFO	7	EFO	hematopoietic cell	Bm2 B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000962	"" []	5408102	\N	\N	EFO	7	EFO	nongranular leukocyte	Bm2 B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000962	"" []	6147075	\N	\N	EFO	8	EFO	cell type	Bm2 B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000962	"" []	6147076	\N	\N	EFO	8	EFO	leukocyte	Bm2 B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000962	"" []	6631635	\N	\N	EFO	9	EFO	material entity	Bm2 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000962	"" []	6631636	\N	\N	EFO	9	EFO	hematopoietic cell	Bm2 B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000962	"" []	6925200	\N	\N	EFO	10	EFO	experimental factor	Bm2 B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000962	"" []	6925201	\N	\N	EFO	10	EFO	somatic cell	Bm2 B cell
CL:0000963	\N	\N	"" []	CL:0000963	"" []	63203	\N	\N	EFO	0	EFO	Bm3-delta B cell	Bm3-delta B cell
CL:0000844	CL:0000963	\N	"" []	CL:0000963	"" []	203009	\N	\N	EFO	1	EFO	germinal center B cell	Bm3-delta B cell
CL:0000844	CL:0000963	\N	"" []	CL:0000963	"" []	203010	\N	\N	EFO	1	EFO	germinal center B cell	Bm3-delta B cell
CL:0000785	CL:0000844	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000963	"" []	555964	\N	\N	EFO	2	EFO	mature B cell	Bm3-delta B cell
CL:0000785	CL:0000844	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000963	"" []	555965	\N	\N	EFO	2	EFO	mature B cell	Bm3-delta B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000963	"" []	1138641	\N	\N	EFO	3	EFO	B cell	Bm3-delta B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000963	"" []	1138642	\N	\N	EFO	3	EFO	B cell	Bm3-delta B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000963	"" []	2021718	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Bm3-delta B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000963	"" []	2021719	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Bm3-delta B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000963	"" []	3176326	\N	\N	EFO	5	EFO	lymphocyte	Bm3-delta B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000963	"" []	3176327	\N	\N	EFO	5	EFO	lymphocyte	Bm3-delta B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000963	"" []	4387004	\N	\N	EFO	6	EFO	leukocyte	Bm3-delta B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000963	"" []	4387005	\N	\N	EFO	6	EFO	nongranular leukocyte	Bm3-delta B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000963	"" []	5408103	\N	\N	EFO	7	EFO	hematopoietic cell	Bm3-delta B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000963	"" []	5408104	\N	\N	EFO	7	EFO	leukocyte	Bm3-delta B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000963	"" []	6147077	\N	\N	EFO	8	EFO	cell type	Bm3-delta B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000963	"" []	6147078	\N	\N	EFO	8	EFO	hematopoietic cell	Bm3-delta B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000963	"" []	6631637	\N	\N	EFO	9	EFO	material entity	Bm3-delta B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000963	"" []	6631638	\N	\N	EFO	9	EFO	somatic cell	Bm3-delta B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000963	"" []	6925202	\N	\N	EFO	10	EFO	experimental factor	Bm3-delta B cell
CL:0000964	\N	\N	"" []	CL:0000964	"" []	63204	\N	\N	EFO	0	EFO	Bm2' B cell	Bm2' B cell
CL:0000844	CL:0000964	\N	"" []	CL:0000964	"" []	203011	\N	\N	EFO	1	EFO	germinal center B cell	Bm2' B cell
CL:0000844	CL:0000964	\N	"" []	CL:0000964	"" []	203012	\N	\N	EFO	1	EFO	germinal center B cell	Bm2' B cell
CL:0000785	CL:0000844	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000964	"" []	555966	\N	\N	EFO	2	EFO	mature B cell	Bm2' B cell
CL:0000785	CL:0000844	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000964	"" []	555967	\N	\N	EFO	2	EFO	mature B cell	Bm2' B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000964	"" []	1138643	\N	\N	EFO	3	EFO	B cell	Bm2' B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000964	"" []	1138644	\N	\N	EFO	3	EFO	B cell	Bm2' B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000964	"" []	2021720	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Bm2' B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000964	"" []	2021721	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Bm2' B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000964	"" []	3176328	\N	\N	EFO	5	EFO	lymphocyte	Bm2' B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000964	"" []	3176329	\N	\N	EFO	5	EFO	lymphocyte	Bm2' B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000964	"" []	4387006	\N	\N	EFO	6	EFO	leukocyte	Bm2' B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000964	"" []	4387007	\N	\N	EFO	6	EFO	nongranular leukocyte	Bm2' B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000964	"" []	5408105	\N	\N	EFO	7	EFO	hematopoietic cell	Bm2' B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000964	"" []	5408106	\N	\N	EFO	7	EFO	leukocyte	Bm2' B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000964	"" []	6147079	\N	\N	EFO	8	EFO	cell type	Bm2' B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000964	"" []	6147080	\N	\N	EFO	8	EFO	hematopoietic cell	Bm2' B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000964	"" []	6631639	\N	\N	EFO	9	EFO	material entity	Bm2' B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000964	"" []	6631640	\N	\N	EFO	9	EFO	somatic cell	Bm2' B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000964	"" []	6925203	\N	\N	EFO	10	EFO	experimental factor	Bm2' B cell
CL:0000965	\N	\N	"" []	CL:0000965	"" []	63205	\N	\N	EFO	0	EFO	Bm3 B cell	Bm3 B cell
CL:0000844	CL:0000965	\N	"" []	CL:0000965	"" []	203013	\N	\N	EFO	1	EFO	germinal center B cell	Bm3 B cell
CL:0000844	CL:0000965	\N	"" []	CL:0000965	"" []	203014	\N	\N	EFO	1	EFO	germinal center B cell	Bm3 B cell
CL:0000785	CL:0000844	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000965	"" []	555968	\N	\N	EFO	2	EFO	mature B cell	Bm3 B cell
CL:0000785	CL:0000844	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000965	"" []	555969	\N	\N	EFO	2	EFO	mature B cell	Bm3 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000965	"" []	1138645	\N	\N	EFO	3	EFO	B cell	Bm3 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000965	"" []	1138646	\N	\N	EFO	3	EFO	B cell	Bm3 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000965	"" []	2021722	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Bm3 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000965	"" []	2021723	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Bm3 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000965	"" []	3176330	\N	\N	EFO	5	EFO	lymphocyte	Bm3 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000965	"" []	3176331	\N	\N	EFO	5	EFO	lymphocyte	Bm3 B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000965	"" []	4387008	\N	\N	EFO	6	EFO	leukocyte	Bm3 B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000965	"" []	4387009	\N	\N	EFO	6	EFO	nongranular leukocyte	Bm3 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000965	"" []	5408107	\N	\N	EFO	7	EFO	hematopoietic cell	Bm3 B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000965	"" []	5408108	\N	\N	EFO	7	EFO	leukocyte	Bm3 B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000965	"" []	6147081	\N	\N	EFO	8	EFO	cell type	Bm3 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000965	"" []	6147082	\N	\N	EFO	8	EFO	hematopoietic cell	Bm3 B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000965	"" []	6631641	\N	\N	EFO	9	EFO	material entity	Bm3 B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000965	"" []	6631642	\N	\N	EFO	9	EFO	somatic cell	Bm3 B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000965	"" []	6925204	\N	\N	EFO	10	EFO	experimental factor	Bm3 B cell
CL:0000966	\N	\N	"" []	CL:0000966	"" []	63206	\N	\N	EFO	0	EFO	Bm4 B cell	Bm4 B cell
CL:0000844	CL:0000966	\N	"" []	CL:0000966	"" []	203015	\N	\N	EFO	1	EFO	germinal center B cell	Bm4 B cell
CL:0000844	CL:0000966	\N	"" []	CL:0000966	"" []	203016	\N	\N	EFO	1	EFO	germinal center B cell	Bm4 B cell
CL:0000785	CL:0000844	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000966	"" []	555970	\N	\N	EFO	2	EFO	mature B cell	Bm4 B cell
CL:0000785	CL:0000844	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000966	"" []	555971	\N	\N	EFO	2	EFO	mature B cell	Bm4 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000966	"" []	1138647	\N	\N	EFO	3	EFO	B cell	Bm4 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000966	"" []	1138648	\N	\N	EFO	3	EFO	B cell	Bm4 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000966	"" []	2021724	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Bm4 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000966	"" []	2021725	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Bm4 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000966	"" []	3176332	\N	\N	EFO	5	EFO	lymphocyte	Bm4 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000966	"" []	3176333	\N	\N	EFO	5	EFO	lymphocyte	Bm4 B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000966	"" []	4387010	\N	\N	EFO	6	EFO	leukocyte	Bm4 B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000966	"" []	4387011	\N	\N	EFO	6	EFO	nongranular leukocyte	Bm4 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000966	"" []	5408109	\N	\N	EFO	7	EFO	hematopoietic cell	Bm4 B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000966	"" []	5408110	\N	\N	EFO	7	EFO	leukocyte	Bm4 B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000966	"" []	6147083	\N	\N	EFO	8	EFO	cell type	Bm4 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000966	"" []	6147084	\N	\N	EFO	8	EFO	hematopoietic cell	Bm4 B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000966	"" []	6631643	\N	\N	EFO	9	EFO	material entity	Bm4 B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000966	"" []	6631644	\N	\N	EFO	9	EFO	somatic cell	Bm4 B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000966	"" []	6925205	\N	\N	EFO	10	EFO	experimental factor	Bm4 B cell
CL:0000967	\N	\N	"" []	CL:0000967	"" []	63207	\N	\N	EFO	0	EFO	Bm5 B cell	Bm5 B cell
CL:0001053	\N	\N	"A memory B cell that lacks expression of surface IgD." [GOC:add, PMID:22343568]	CL:0000967	"" []	194214	\N	\N	EFO	0	EFO	IgD-negative memory B cell	Bm5 B cell
CL:0000787	CL:0000967	\N	"" []	CL:0000967	"" []	203017	\N	\N	EFO	1	EFO	memory B cell	Bm5 B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000967	"" []	555972	\N	\N	EFO	2	EFO	mature B cell	Bm5 B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000967	"" []	1138649	\N	\N	EFO	3	EFO	B cell	Bm5 B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000967	"" []	2021726	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Bm5 B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000967	"" []	3176334	\N	\N	EFO	5	EFO	lymphocyte	Bm5 B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000967	"" []	4387012	\N	\N	EFO	6	EFO	leukocyte	Bm5 B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000967	"" []	5408111	\N	\N	EFO	7	EFO	hematopoietic cell	Bm5 B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000967	"" []	6147085	\N	\N	EFO	8	EFO	cell type	Bm5 B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000967	"" []	6631645	\N	\N	EFO	9	EFO	material entity	Bm5 B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000967	"" []	6925206	\N	\N	EFO	10	EFO	experimental factor	Bm5 B cell
CL:0000968	\N	\N	"" []	CL:0000968	"" []	63208	\N	\N	EFO	0	EFO	Be cell	Be cell
CL:0000785	CL:0000968	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000968	"" []	203018	\N	\N	EFO	1	EFO	mature B cell	Be cell
CL:0000785	CL:0000968	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000968	"" []	203019	\N	\N	EFO	1	EFO	mature B cell	Be cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000968	"" []	555973	\N	\N	EFO	2	EFO	B cell	Be cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000968	"" []	555974	\N	\N	EFO	2	EFO	B cell	Be cell
CL:0000945	CL:0000236	\N	"" []	CL:0000968	"" []	1138650	\N	\N	EFO	3	EFO	lymphocyte of B lineage	Be cell
CL:0000945	CL:0000236	\N	"" []	CL:0000968	"" []	1138651	\N	\N	EFO	3	EFO	lymphocyte of B lineage	Be cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000968	"" []	2021727	\N	\N	EFO	4	EFO	lymphocyte	Be cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000968	"" []	2021728	\N	\N	EFO	4	EFO	lymphocyte	Be cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000968	"" []	3176335	\N	\N	EFO	5	EFO	leukocyte	Be cell
CL:0002087	CL:0000542	\N	"" []	CL:0000968	"" []	3176336	\N	\N	EFO	5	EFO	nongranular leukocyte	Be cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000968	"" []	4387013	\N	\N	EFO	6	EFO	hematopoietic cell	Be cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000968	"" []	4387014	\N	\N	EFO	6	EFO	leukocyte	Be cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000968	"" []	5408112	\N	\N	EFO	7	EFO	cell type	Be cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000968	"" []	5408113	\N	\N	EFO	7	EFO	hematopoietic cell	Be cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000968	"" []	6147086	\N	\N	EFO	8	EFO	material entity	Be cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000968	"" []	6147087	\N	\N	EFO	8	EFO	somatic cell	Be cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000968	"" []	6631646	\N	\N	EFO	9	EFO	experimental factor	Be cell
CL:0000969	\N	\N	"" []	CL:0000969	"" []	63209	\N	\N	EFO	0	EFO	regulatory B cell	regulatory B cell
CL:0000785	CL:0000969	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000969	"" []	203020	\N	\N	EFO	1	EFO	mature B cell	regulatory B cell
CL:0000785	CL:0000969	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000969	"" []	203021	\N	\N	EFO	1	EFO	mature B cell	regulatory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000969	"" []	555975	\N	\N	EFO	2	EFO	B cell	regulatory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000969	"" []	555976	\N	\N	EFO	2	EFO	B cell	regulatory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000969	"" []	1138652	\N	\N	EFO	3	EFO	lymphocyte of B lineage	regulatory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000969	"" []	1138653	\N	\N	EFO	3	EFO	lymphocyte of B lineage	regulatory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000969	"" []	2021729	\N	\N	EFO	4	EFO	lymphocyte	regulatory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000969	"" []	2021730	\N	\N	EFO	4	EFO	lymphocyte	regulatory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000969	"" []	3176337	\N	\N	EFO	5	EFO	leukocyte	regulatory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000969	"" []	3176338	\N	\N	EFO	5	EFO	nongranular leukocyte	regulatory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000969	"" []	4387015	\N	\N	EFO	6	EFO	hematopoietic cell	regulatory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000969	"" []	4387016	\N	\N	EFO	6	EFO	leukocyte	regulatory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000969	"" []	5408114	\N	\N	EFO	7	EFO	cell type	regulatory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000969	"" []	5408115	\N	\N	EFO	7	EFO	hematopoietic cell	regulatory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000969	"" []	6147088	\N	\N	EFO	8	EFO	material entity	regulatory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000969	"" []	6147089	\N	\N	EFO	8	EFO	somatic cell	regulatory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000969	"" []	6631647	\N	\N	EFO	9	EFO	experimental factor	regulatory B cell
CL:0000970	\N	\N	"" []	CL:0000970	"" []	63210	\N	\N	EFO	0	EFO	unswitched memory B cell	unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0000970	"" []	203022	\N	\N	EFO	1	EFO	memory B cell	unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0000970	"" []	203023	\N	\N	EFO	1	EFO	memory B cell	unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000970	"" []	555977	\N	\N	EFO	2	EFO	mature B cell	unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000970	"" []	555978	\N	\N	EFO	2	EFO	mature B cell	unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000970	"" []	1138654	\N	\N	EFO	3	EFO	B cell	unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000970	"" []	1138655	\N	\N	EFO	3	EFO	B cell	unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000970	"" []	2021731	\N	\N	EFO	4	EFO	lymphocyte of B lineage	unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000970	"" []	2021732	\N	\N	EFO	4	EFO	lymphocyte of B lineage	unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000970	"" []	3176339	\N	\N	EFO	5	EFO	lymphocyte	unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000970	"" []	3176340	\N	\N	EFO	5	EFO	lymphocyte	unswitched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000970	"" []	4387017	\N	\N	EFO	6	EFO	leukocyte	unswitched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000970	"" []	4387018	\N	\N	EFO	6	EFO	nongranular leukocyte	unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000970	"" []	5408116	\N	\N	EFO	7	EFO	hematopoietic cell	unswitched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000970	"" []	5408117	\N	\N	EFO	7	EFO	leukocyte	unswitched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000970	"" []	6147090	\N	\N	EFO	8	EFO	cell type	unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000970	"" []	6147091	\N	\N	EFO	8	EFO	hematopoietic cell	unswitched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000970	"" []	6631648	\N	\N	EFO	9	EFO	material entity	unswitched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000970	"" []	6631649	\N	\N	EFO	9	EFO	somatic cell	unswitched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000970	"" []	6925207	\N	\N	EFO	10	EFO	experimental factor	unswitched memory B cell
CL:0000971	\N	\N	"" []	CL:0000971	"" []	63211	\N	\N	EFO	0	EFO	IgM memory B cell	IgM memory B cell
CL:0001053	\N	\N	"A memory B cell that lacks expression of surface IgD." [GOC:add, PMID:22343568]	CL:0000971	"" []	194215	\N	\N	EFO	0	EFO	IgD-negative memory B cell	IgM memory B cell
CL:0000970	CL:0000971	\N	"" []	CL:0000971	"" []	203024	\N	\N	EFO	1	EFO	unswitched memory B cell	IgM memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0000971	"" []	555979	\N	\N	EFO	2	EFO	memory B cell	IgM memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000971	"" []	1138656	\N	\N	EFO	3	EFO	mature B cell	IgM memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000971	"" []	2021733	\N	\N	EFO	4	EFO	B cell	IgM memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000971	"" []	3176341	\N	\N	EFO	5	EFO	lymphocyte of B lineage	IgM memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000971	"" []	4387019	\N	\N	EFO	6	EFO	lymphocyte	IgM memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000971	"" []	5408118	\N	\N	EFO	7	EFO	leukocyte	IgM memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000971	"" []	6147092	\N	\N	EFO	8	EFO	hematopoietic cell	IgM memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000971	"" []	6631650	\N	\N	EFO	9	EFO	cell type	IgM memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000971	"" []	6925208	\N	\N	EFO	10	EFO	material entity	IgM memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000971	"" []	7098942	\N	\N	EFO	11	EFO	experimental factor	IgM memory B cell
CL:0000972	\N	\N	"" []	CL:0000972	"" []	63212	\N	\N	EFO	0	EFO	class switched memory B cell	class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0000972	"" []	203025	\N	\N	EFO	1	EFO	memory B cell	class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0000972	"" []	203026	\N	\N	EFO	1	EFO	memory B cell	class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000972	"" []	555980	\N	\N	EFO	2	EFO	mature B cell	class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000972	"" []	555981	\N	\N	EFO	2	EFO	mature B cell	class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000972	"" []	1138657	\N	\N	EFO	3	EFO	B cell	class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000972	"" []	1138658	\N	\N	EFO	3	EFO	B cell	class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000972	"" []	2021734	\N	\N	EFO	4	EFO	lymphocyte of B lineage	class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000972	"" []	2021735	\N	\N	EFO	4	EFO	lymphocyte of B lineage	class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000972	"" []	3176342	\N	\N	EFO	5	EFO	lymphocyte	class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000972	"" []	3176343	\N	\N	EFO	5	EFO	lymphocyte	class switched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000972	"" []	4387020	\N	\N	EFO	6	EFO	leukocyte	class switched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000972	"" []	4387021	\N	\N	EFO	6	EFO	nongranular leukocyte	class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000972	"" []	5408119	\N	\N	EFO	7	EFO	hematopoietic cell	class switched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000972	"" []	5408120	\N	\N	EFO	7	EFO	leukocyte	class switched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000972	"" []	6147093	\N	\N	EFO	8	EFO	cell type	class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000972	"" []	6147094	\N	\N	EFO	8	EFO	hematopoietic cell	class switched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000972	"" []	6631651	\N	\N	EFO	9	EFO	material entity	class switched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000972	"" []	6631652	\N	\N	EFO	9	EFO	somatic cell	class switched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000972	"" []	6925209	\N	\N	EFO	10	EFO	experimental factor	class switched memory B cell
CL:0000973	\N	\N	"" []	CL:0000973	"" []	63213	\N	\N	EFO	0	EFO	IgA memory B cell	IgA memory B cell
CL:0000972	CL:0000973	\N	"" []	CL:0000973	"" []	203027	\N	\N	EFO	1	EFO	class switched memory B cell	IgA memory B cell
CL:0000972	CL:0000973	\N	"" []	CL:0000973	"" []	203028	\N	\N	EFO	1	EFO	class switched memory B cell	IgA memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0000973	"" []	555982	\N	\N	EFO	2	EFO	memory B cell	IgA memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0000973	"" []	555983	\N	\N	EFO	2	EFO	memory B cell	IgA memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000973	"" []	1138659	\N	\N	EFO	3	EFO	mature B cell	IgA memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000973	"" []	1138660	\N	\N	EFO	3	EFO	mature B cell	IgA memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000973	"" []	2021736	\N	\N	EFO	4	EFO	B cell	IgA memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000973	"" []	2021737	\N	\N	EFO	4	EFO	B cell	IgA memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000973	"" []	3176344	\N	\N	EFO	5	EFO	lymphocyte of B lineage	IgA memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000973	"" []	3176345	\N	\N	EFO	5	EFO	lymphocyte of B lineage	IgA memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000973	"" []	4387022	\N	\N	EFO	6	EFO	lymphocyte	IgA memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000973	"" []	4387023	\N	\N	EFO	6	EFO	lymphocyte	IgA memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000973	"" []	5408121	\N	\N	EFO	7	EFO	leukocyte	IgA memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000973	"" []	5408122	\N	\N	EFO	7	EFO	nongranular leukocyte	IgA memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000973	"" []	6147095	\N	\N	EFO	8	EFO	hematopoietic cell	IgA memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000973	"" []	6147096	\N	\N	EFO	8	EFO	leukocyte	IgA memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000973	"" []	6631653	\N	\N	EFO	9	EFO	cell type	IgA memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000973	"" []	6631654	\N	\N	EFO	9	EFO	hematopoietic cell	IgA memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000973	"" []	6925210	\N	\N	EFO	10	EFO	material entity	IgA memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000973	"" []	6925211	\N	\N	EFO	10	EFO	somatic cell	IgA memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000973	"" []	7098943	\N	\N	EFO	11	EFO	experimental factor	IgA memory B cell
CL:0000974	\N	\N	"" []	CL:0000974	"" []	63214	\N	\N	EFO	0	EFO	long lived plasma cell	long lived plasma cell
CL:0000786	CL:0000974	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000974	"" []	203029	\N	\N	EFO	1	EFO	plasma cell	long lived plasma cell
CL:0000786	CL:0000974	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000974	"" []	203030	\N	\N	EFO	1	EFO	plasma cell	long lived plasma cell
CL:0000151	CL:0000786	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000974	"" []	555984	\N	\N	EFO	2	EFO	secretory cell	long lived plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000974	"" []	555985	\N	\N	EFO	2	EFO	antibody secreting cell	long lived plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000974	"" []	555986	\N	\N	EFO	2	EFO	antibody secreting cell	long lived plasma cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000974	"" []	1138661	\N	\N	EFO	3	EFO	cell type	long lived plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000974	"" []	1138662	\N	\N	EFO	3	EFO	lymphocyte of B lineage	long lived plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000974	"" []	1138663	\N	\N	EFO	3	EFO	lymphocyte of B lineage	long lived plasma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000974	"" []	6147097	\N	\N	EFO	8	EFO	material entity	long lived plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000974	"" []	2021739	\N	\N	EFO	4	EFO	lymphocyte	long lived plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000974	"" []	2021740	\N	\N	EFO	4	EFO	lymphocyte	long lived plasma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000974	"" []	6378768	\N	\N	EFO	9	EFO	experimental factor	long lived plasma cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000974	"" []	3176347	\N	\N	EFO	5	EFO	leukocyte	long lived plasma cell
CL:0002087	CL:0000542	\N	"" []	CL:0000974	"" []	3176348	\N	\N	EFO	5	EFO	nongranular leukocyte	long lived plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000974	"" []	4387024	\N	\N	EFO	6	EFO	hematopoietic cell	long lived plasma cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000974	"" []	4387025	\N	\N	EFO	6	EFO	leukocyte	long lived plasma cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000974	"" []	5408123	\N	\N	EFO	7	EFO	cell type	long lived plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000974	"" []	5408124	\N	\N	EFO	7	EFO	hematopoietic cell	long lived plasma cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000974	"" []	6147098	\N	\N	EFO	8	EFO	somatic cell	long lived plasma cell
CL:0000975	\N	\N	"" []	CL:0000975	"" []	63215	\N	\N	EFO	0	EFO	short lived plasma cell	short lived plasma cell
CL:0000786	CL:0000975	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000975	"" []	203031	\N	\N	EFO	1	EFO	plasma cell	short lived plasma cell
CL:0000786	CL:0000975	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000975	"" []	203032	\N	\N	EFO	1	EFO	plasma cell	short lived plasma cell
CL:0000151	CL:0000786	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000975	"" []	555987	\N	\N	EFO	2	EFO	secretory cell	short lived plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000975	"" []	555988	\N	\N	EFO	2	EFO	antibody secreting cell	short lived plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000975	"" []	555989	\N	\N	EFO	2	EFO	antibody secreting cell	short lived plasma cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000975	"" []	1138664	\N	\N	EFO	3	EFO	cell type	short lived plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000975	"" []	1138665	\N	\N	EFO	3	EFO	lymphocyte of B lineage	short lived plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000975	"" []	1138666	\N	\N	EFO	3	EFO	lymphocyte of B lineage	short lived plasma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000975	"" []	6147099	\N	\N	EFO	8	EFO	material entity	short lived plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000975	"" []	2021742	\N	\N	EFO	4	EFO	lymphocyte	short lived plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000975	"" []	2021743	\N	\N	EFO	4	EFO	lymphocyte	short lived plasma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000975	"" []	6378769	\N	\N	EFO	9	EFO	experimental factor	short lived plasma cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000975	"" []	3176350	\N	\N	EFO	5	EFO	leukocyte	short lived plasma cell
CL:0002087	CL:0000542	\N	"" []	CL:0000975	"" []	3176351	\N	\N	EFO	5	EFO	nongranular leukocyte	short lived plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000975	"" []	4387026	\N	\N	EFO	6	EFO	hematopoietic cell	short lived plasma cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000975	"" []	4387027	\N	\N	EFO	6	EFO	leukocyte	short lived plasma cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000975	"" []	5408125	\N	\N	EFO	7	EFO	cell type	short lived plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000975	"" []	5408126	\N	\N	EFO	7	EFO	hematopoietic cell	short lived plasma cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000975	"" []	6147100	\N	\N	EFO	8	EFO	somatic cell	short lived plasma cell
CL:0000976	\N	\N	"" []	CL:0000976	"" []	63216	\N	\N	EFO	0	EFO	IgA short lived plasma cell	IgA short lived plasma cell
CL:0000975	CL:0000976	\N	"" []	CL:0000976	"" []	203033	\N	\N	EFO	1	EFO	short lived plasma cell	IgA short lived plasma cell
CL:0000975	CL:0000976	\N	"" []	CL:0000976	"" []	203034	\N	\N	EFO	1	EFO	short lived plasma cell	IgA short lived plasma cell
CL:0000786	CL:0000975	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000976	"" []	555990	\N	\N	EFO	2	EFO	plasma cell	IgA short lived plasma cell
CL:0000786	CL:0000975	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000976	"" []	555991	\N	\N	EFO	2	EFO	plasma cell	IgA short lived plasma cell
CL:0000151	CL:0000786	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000976	"" []	1138667	\N	\N	EFO	3	EFO	secretory cell	IgA short lived plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000976	"" []	1138668	\N	\N	EFO	3	EFO	antibody secreting cell	IgA short lived plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000976	"" []	1138669	\N	\N	EFO	3	EFO	antibody secreting cell	IgA short lived plasma cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000976	"" []	2021744	\N	\N	EFO	4	EFO	cell type	IgA short lived plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000976	"" []	2021745	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgA short lived plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000976	"" []	2021746	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgA short lived plasma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000976	"" []	6631655	\N	\N	EFO	9	EFO	material entity	IgA short lived plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000976	"" []	3176353	\N	\N	EFO	5	EFO	lymphocyte	IgA short lived plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000976	"" []	3176354	\N	\N	EFO	5	EFO	lymphocyte	IgA short lived plasma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000976	"" []	6778577	\N	\N	EFO	10	EFO	experimental factor	IgA short lived plasma cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000976	"" []	4387029	\N	\N	EFO	6	EFO	leukocyte	IgA short lived plasma cell
CL:0002087	CL:0000542	\N	"" []	CL:0000976	"" []	4387030	\N	\N	EFO	6	EFO	nongranular leukocyte	IgA short lived plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000976	"" []	5408127	\N	\N	EFO	7	EFO	hematopoietic cell	IgA short lived plasma cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000976	"" []	5408128	\N	\N	EFO	7	EFO	leukocyte	IgA short lived plasma cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000976	"" []	6147101	\N	\N	EFO	8	EFO	cell type	IgA short lived plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000976	"" []	6147102	\N	\N	EFO	8	EFO	hematopoietic cell	IgA short lived plasma cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000976	"" []	6631656	\N	\N	EFO	9	EFO	somatic cell	IgA short lived plasma cell
CL:0000977	\N	\N	"" []	CL:0000977	"" []	63217	\N	\N	EFO	0	EFO	IgG short lived plasma cell	IgG short lived plasma cell
CL:0000975	CL:0000977	\N	"" []	CL:0000977	"" []	203035	\N	\N	EFO	1	EFO	short lived plasma cell	IgG short lived plasma cell
CL:0000975	CL:0000977	\N	"" []	CL:0000977	"" []	203036	\N	\N	EFO	1	EFO	short lived plasma cell	IgG short lived plasma cell
CL:0000786	CL:0000975	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000977	"" []	555992	\N	\N	EFO	2	EFO	plasma cell	IgG short lived plasma cell
CL:0000786	CL:0000975	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000977	"" []	555993	\N	\N	EFO	2	EFO	plasma cell	IgG short lived plasma cell
CL:0000151	CL:0000786	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000977	"" []	1138670	\N	\N	EFO	3	EFO	secretory cell	IgG short lived plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000977	"" []	1138671	\N	\N	EFO	3	EFO	antibody secreting cell	IgG short lived plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000977	"" []	1138672	\N	\N	EFO	3	EFO	antibody secreting cell	IgG short lived plasma cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000977	"" []	2021747	\N	\N	EFO	4	EFO	cell type	IgG short lived plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000977	"" []	2021748	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgG short lived plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000977	"" []	2021749	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgG short lived plasma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000977	"" []	6631657	\N	\N	EFO	9	EFO	material entity	IgG short lived plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000977	"" []	3176356	\N	\N	EFO	5	EFO	lymphocyte	IgG short lived plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000977	"" []	3176357	\N	\N	EFO	5	EFO	lymphocyte	IgG short lived plasma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000977	"" []	6778578	\N	\N	EFO	10	EFO	experimental factor	IgG short lived plasma cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000977	"" []	4387032	\N	\N	EFO	6	EFO	leukocyte	IgG short lived plasma cell
CL:0002087	CL:0000542	\N	"" []	CL:0000977	"" []	4387033	\N	\N	EFO	6	EFO	nongranular leukocyte	IgG short lived plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000977	"" []	5408129	\N	\N	EFO	7	EFO	hematopoietic cell	IgG short lived plasma cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000977	"" []	5408130	\N	\N	EFO	7	EFO	leukocyte	IgG short lived plasma cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000977	"" []	6147103	\N	\N	EFO	8	EFO	cell type	IgG short lived plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000977	"" []	6147104	\N	\N	EFO	8	EFO	hematopoietic cell	IgG short lived plasma cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000977	"" []	6631658	\N	\N	EFO	9	EFO	somatic cell	IgG short lived plasma cell
CL:0000978	\N	\N	"" []	CL:0000978	"" []	63218	\N	\N	EFO	0	EFO	IgM short lived plasma cell	IgM short lived plasma cell
CL:0000975	CL:0000978	\N	"" []	CL:0000978	"" []	203037	\N	\N	EFO	1	EFO	short lived plasma cell	IgM short lived plasma cell
CL:0000975	CL:0000978	\N	"" []	CL:0000978	"" []	203038	\N	\N	EFO	1	EFO	short lived plasma cell	IgM short lived plasma cell
CL:0000786	CL:0000975	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000978	"" []	555994	\N	\N	EFO	2	EFO	plasma cell	IgM short lived plasma cell
CL:0000786	CL:0000975	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000978	"" []	555995	\N	\N	EFO	2	EFO	plasma cell	IgM short lived plasma cell
CL:0000151	CL:0000786	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000978	"" []	1138673	\N	\N	EFO	3	EFO	secretory cell	IgM short lived plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000978	"" []	1138674	\N	\N	EFO	3	EFO	antibody secreting cell	IgM short lived plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000978	"" []	1138675	\N	\N	EFO	3	EFO	antibody secreting cell	IgM short lived plasma cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000978	"" []	2021750	\N	\N	EFO	4	EFO	cell type	IgM short lived plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000978	"" []	2021751	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgM short lived plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000978	"" []	2021752	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgM short lived plasma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000978	"" []	6631659	\N	\N	EFO	9	EFO	material entity	IgM short lived plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000978	"" []	3176359	\N	\N	EFO	5	EFO	lymphocyte	IgM short lived plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000978	"" []	3176360	\N	\N	EFO	5	EFO	lymphocyte	IgM short lived plasma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000978	"" []	6778579	\N	\N	EFO	10	EFO	experimental factor	IgM short lived plasma cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000978	"" []	4387035	\N	\N	EFO	6	EFO	leukocyte	IgM short lived plasma cell
CL:0002087	CL:0000542	\N	"" []	CL:0000978	"" []	4387036	\N	\N	EFO	6	EFO	nongranular leukocyte	IgM short lived plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000978	"" []	5408131	\N	\N	EFO	7	EFO	hematopoietic cell	IgM short lived plasma cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000978	"" []	5408132	\N	\N	EFO	7	EFO	leukocyte	IgM short lived plasma cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000978	"" []	6147105	\N	\N	EFO	8	EFO	cell type	IgM short lived plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000978	"" []	6147106	\N	\N	EFO	8	EFO	hematopoietic cell	IgM short lived plasma cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000978	"" []	6631660	\N	\N	EFO	9	EFO	somatic cell	IgM short lived plasma cell
CL:0000979	\N	\N	"" []	CL:0000979	"" []	63219	\N	\N	EFO	0	EFO	IgG memory B cell	IgG memory B cell
CL:0000972	CL:0000979	\N	"" []	CL:0000979	"" []	203039	\N	\N	EFO	1	EFO	class switched memory B cell	IgG memory B cell
CL:0000972	CL:0000979	\N	"" []	CL:0000979	"" []	203040	\N	\N	EFO	1	EFO	class switched memory B cell	IgG memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0000979	"" []	555996	\N	\N	EFO	2	EFO	memory B cell	IgG memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0000979	"" []	555997	\N	\N	EFO	2	EFO	memory B cell	IgG memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000979	"" []	1138676	\N	\N	EFO	3	EFO	mature B cell	IgG memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000979	"" []	1138677	\N	\N	EFO	3	EFO	mature B cell	IgG memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000979	"" []	2021753	\N	\N	EFO	4	EFO	B cell	IgG memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000979	"" []	2021754	\N	\N	EFO	4	EFO	B cell	IgG memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000979	"" []	3176361	\N	\N	EFO	5	EFO	lymphocyte of B lineage	IgG memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000979	"" []	3176362	\N	\N	EFO	5	EFO	lymphocyte of B lineage	IgG memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000979	"" []	4387037	\N	\N	EFO	6	EFO	lymphocyte	IgG memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000979	"" []	4387038	\N	\N	EFO	6	EFO	lymphocyte	IgG memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000979	"" []	5408133	\N	\N	EFO	7	EFO	leukocyte	IgG memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0000979	"" []	5408134	\N	\N	EFO	7	EFO	nongranular leukocyte	IgG memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000979	"" []	6147107	\N	\N	EFO	8	EFO	hematopoietic cell	IgG memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000979	"" []	6147108	\N	\N	EFO	8	EFO	leukocyte	IgG memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000979	"" []	6631661	\N	\N	EFO	9	EFO	cell type	IgG memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000979	"" []	6631662	\N	\N	EFO	9	EFO	hematopoietic cell	IgG memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000979	"" []	6925212	\N	\N	EFO	10	EFO	material entity	IgG memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000979	"" []	6925213	\N	\N	EFO	10	EFO	somatic cell	IgG memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000979	"" []	7098944	\N	\N	EFO	11	EFO	experimental factor	IgG memory B cell
CL:0000980	\N	\N	"" []	CL:0000980	"" []	63220	\N	\N	EFO	0	EFO	plasmablast	plasmablast
CL:0000785	CL:0000980	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000980	"" []	203041	\N	\N	EFO	1	EFO	mature B cell	plasmablast
CL:0000785	CL:0000980	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000980	"" []	203042	\N	\N	EFO	1	EFO	mature B cell	plasmablast
CL:0000946	CL:0000980	\N	"" []	CL:0000980	"" []	203043	\N	\N	EFO	1	EFO	antibody secreting cell	plasmablast
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000980	"" []	555998	\N	\N	EFO	2	EFO	B cell	plasmablast
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000980	"" []	555999	\N	\N	EFO	2	EFO	B cell	plasmablast
CL:0000945	CL:0000946	\N	"" []	CL:0000980	"" []	556000	\N	\N	EFO	2	EFO	lymphocyte of B lineage	plasmablast
CL:0000945	CL:0000236	\N	"" []	CL:0000980	"" []	1138678	\N	\N	EFO	3	EFO	lymphocyte of B lineage	plasmablast
CL:0000945	CL:0000236	\N	"" []	CL:0000980	"" []	1138679	\N	\N	EFO	3	EFO	lymphocyte of B lineage	plasmablast
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000980	"" []	2021756	\N	\N	EFO	4	EFO	lymphocyte	plasmablast
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000980	"" []	2021755	\N	\N	EFO	4	EFO	lymphocyte	plasmablast
CL:0002087	CL:0000542	\N	"" []	CL:0000980	"" []	2999183	\N	\N	EFO	5	EFO	nongranular leukocyte	plasmablast
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000980	"" []	3176363	\N	\N	EFO	5	EFO	leukocyte	plasmablast
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000980	"" []	4132435	\N	\N	EFO	6	EFO	leukocyte	plasmablast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000980	"" []	4387039	\N	\N	EFO	6	EFO	hematopoietic cell	plasmablast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000980	"" []	5180826	\N	\N	EFO	7	EFO	hematopoietic cell	plasmablast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000980	"" []	5408135	\N	\N	EFO	7	EFO	cell type	plasmablast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000980	"" []	5996511	\N	\N	EFO	8	EFO	somatic cell	plasmablast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000980	"" []	6147109	\N	\N	EFO	8	EFO	material entity	plasmablast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000980	"" []	6631663	\N	\N	EFO	9	EFO	experimental factor	plasmablast
CL:0000981	\N	\N	"" []	CL:0000981	"" []	63221	\N	\N	EFO	0	EFO	double negative memory B cell	double negative memory B cell
CL:0001053	\N	\N	"A memory B cell that lacks expression of surface IgD." [GOC:add, PMID:22343568]	CL:0000981	"" []	194216	\N	\N	EFO	0	EFO	IgD-negative memory B cell	double negative memory B cell
CL:0000787	CL:0000981	\N	"" []	CL:0000981	"" []	203044	\N	\N	EFO	1	EFO	memory B cell	double negative memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000981	"" []	556001	\N	\N	EFO	2	EFO	mature B cell	double negative memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000981	"" []	1138681	\N	\N	EFO	3	EFO	B cell	double negative memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0000981	"" []	2021758	\N	\N	EFO	4	EFO	lymphocyte of B lineage	double negative memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000981	"" []	3176365	\N	\N	EFO	5	EFO	lymphocyte	double negative memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000981	"" []	4387041	\N	\N	EFO	6	EFO	leukocyte	double negative memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000981	"" []	5408137	\N	\N	EFO	7	EFO	hematopoietic cell	double negative memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000981	"" []	6147110	\N	\N	EFO	8	EFO	cell type	double negative memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000981	"" []	6631664	\N	\N	EFO	9	EFO	material entity	double negative memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000981	"" []	6925214	\N	\N	EFO	10	EFO	experimental factor	double negative memory B cell
CL:0000982	\N	\N	"" []	CL:0000982	"" []	63222	\N	\N	EFO	0	EFO	IgG plasmablast	IgG plasmablast
CL:0000980	CL:0000982	\N	"" []	CL:0000982	"" []	203045	\N	\N	EFO	1	EFO	plasmablast	IgG plasmablast
CL:0000980	CL:0000982	\N	"" []	CL:0000982	"" []	203046	\N	\N	EFO	1	EFO	plasmablast	IgG plasmablast
CL:0000785	CL:0000980	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000982	"" []	556002	\N	\N	EFO	2	EFO	mature B cell	IgG plasmablast
CL:0000785	CL:0000980	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000982	"" []	556003	\N	\N	EFO	2	EFO	mature B cell	IgG plasmablast
CL:0000946	CL:0000980	\N	"" []	CL:0000982	"" []	556004	\N	\N	EFO	2	EFO	antibody secreting cell	IgG plasmablast
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000982	"" []	1138682	\N	\N	EFO	3	EFO	B cell	IgG plasmablast
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000982	"" []	1138683	\N	\N	EFO	3	EFO	B cell	IgG plasmablast
CL:0000945	CL:0000946	\N	"" []	CL:0000982	"" []	1138684	\N	\N	EFO	3	EFO	lymphocyte of B lineage	IgG plasmablast
CL:0000945	CL:0000236	\N	"" []	CL:0000982	"" []	2021759	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgG plasmablast
CL:0000945	CL:0000236	\N	"" []	CL:0000982	"" []	2021760	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgG plasmablast
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000982	"" []	3176367	\N	\N	EFO	5	EFO	lymphocyte	IgG plasmablast
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000982	"" []	3176366	\N	\N	EFO	5	EFO	lymphocyte	IgG plasmablast
CL:0002087	CL:0000542	\N	"" []	CL:0000982	"" []	4132436	\N	\N	EFO	6	EFO	nongranular leukocyte	IgG plasmablast
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000982	"" []	4387042	\N	\N	EFO	6	EFO	leukocyte	IgG plasmablast
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000982	"" []	5180827	\N	\N	EFO	7	EFO	leukocyte	IgG plasmablast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000982	"" []	5408138	\N	\N	EFO	7	EFO	hematopoietic cell	IgG plasmablast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000982	"" []	5996512	\N	\N	EFO	8	EFO	hematopoietic cell	IgG plasmablast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000982	"" []	6147111	\N	\N	EFO	8	EFO	cell type	IgG plasmablast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000982	"" []	6550339	\N	\N	EFO	9	EFO	somatic cell	IgG plasmablast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000982	"" []	6631665	\N	\N	EFO	9	EFO	material entity	IgG plasmablast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000982	"" []	6925215	\N	\N	EFO	10	EFO	experimental factor	IgG plasmablast
CL:0000983	\N	\N	"" []	CL:0000983	"" []	63223	\N	\N	EFO	0	EFO	IgM plasmablast	IgM plasmablast
CL:0000980	CL:0000983	\N	"" []	CL:0000983	"" []	203047	\N	\N	EFO	1	EFO	plasmablast	IgM plasmablast
CL:0000980	CL:0000983	\N	"" []	CL:0000983	"" []	203048	\N	\N	EFO	1	EFO	plasmablast	IgM plasmablast
CL:0000785	CL:0000980	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000983	"" []	556005	\N	\N	EFO	2	EFO	mature B cell	IgM plasmablast
CL:0000785	CL:0000980	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000983	"" []	556006	\N	\N	EFO	2	EFO	mature B cell	IgM plasmablast
CL:0000946	CL:0000980	\N	"" []	CL:0000983	"" []	556007	\N	\N	EFO	2	EFO	antibody secreting cell	IgM plasmablast
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000983	"" []	1138685	\N	\N	EFO	3	EFO	B cell	IgM plasmablast
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000983	"" []	1138686	\N	\N	EFO	3	EFO	B cell	IgM plasmablast
CL:0000945	CL:0000946	\N	"" []	CL:0000983	"" []	1138687	\N	\N	EFO	3	EFO	lymphocyte of B lineage	IgM plasmablast
CL:0000945	CL:0000236	\N	"" []	CL:0000983	"" []	2021762	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgM plasmablast
CL:0000945	CL:0000236	\N	"" []	CL:0000983	"" []	2021763	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgM plasmablast
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000983	"" []	3176370	\N	\N	EFO	5	EFO	lymphocyte	IgM plasmablast
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000983	"" []	3176369	\N	\N	EFO	5	EFO	lymphocyte	IgM plasmablast
CL:0002087	CL:0000542	\N	"" []	CL:0000983	"" []	4132437	\N	\N	EFO	6	EFO	nongranular leukocyte	IgM plasmablast
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000983	"" []	4387044	\N	\N	EFO	6	EFO	leukocyte	IgM plasmablast
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000983	"" []	5180828	\N	\N	EFO	7	EFO	leukocyte	IgM plasmablast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000983	"" []	5408140	\N	\N	EFO	7	EFO	hematopoietic cell	IgM plasmablast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000983	"" []	5996513	\N	\N	EFO	8	EFO	hematopoietic cell	IgM plasmablast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000983	"" []	6147113	\N	\N	EFO	8	EFO	cell type	IgM plasmablast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000983	"" []	6550340	\N	\N	EFO	9	EFO	somatic cell	IgM plasmablast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000983	"" []	6631666	\N	\N	EFO	9	EFO	material entity	IgM plasmablast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000983	"" []	6925216	\N	\N	EFO	10	EFO	experimental factor	IgM plasmablast
CL:0000984	\N	\N	"" []	CL:0000984	"" []	63224	\N	\N	EFO	0	EFO	IgA plasmablast	IgA plasmablast
CL:0000980	CL:0000984	\N	"" []	CL:0000984	"" []	203049	\N	\N	EFO	1	EFO	plasmablast	IgA plasmablast
CL:0000980	CL:0000984	\N	"" []	CL:0000984	"" []	203050	\N	\N	EFO	1	EFO	plasmablast	IgA plasmablast
CL:0000785	CL:0000980	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000984	"" []	556008	\N	\N	EFO	2	EFO	mature B cell	IgA plasmablast
CL:0000785	CL:0000980	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0000984	"" []	556009	\N	\N	EFO	2	EFO	mature B cell	IgA plasmablast
CL:0000946	CL:0000980	\N	"" []	CL:0000984	"" []	556010	\N	\N	EFO	2	EFO	antibody secreting cell	IgA plasmablast
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000984	"" []	1138688	\N	\N	EFO	3	EFO	B cell	IgA plasmablast
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0000984	"" []	1138689	\N	\N	EFO	3	EFO	B cell	IgA plasmablast
CL:0000945	CL:0000946	\N	"" []	CL:0000984	"" []	1138690	\N	\N	EFO	3	EFO	lymphocyte of B lineage	IgA plasmablast
CL:0000945	CL:0000236	\N	"" []	CL:0000984	"" []	2021765	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgA plasmablast
CL:0000945	CL:0000236	\N	"" []	CL:0000984	"" []	2021766	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgA plasmablast
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000984	"" []	3176373	\N	\N	EFO	5	EFO	lymphocyte	IgA plasmablast
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000984	"" []	3176372	\N	\N	EFO	5	EFO	lymphocyte	IgA plasmablast
CL:0002087	CL:0000542	\N	"" []	CL:0000984	"" []	4132438	\N	\N	EFO	6	EFO	nongranular leukocyte	IgA plasmablast
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000984	"" []	4387046	\N	\N	EFO	6	EFO	leukocyte	IgA plasmablast
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000984	"" []	5180829	\N	\N	EFO	7	EFO	leukocyte	IgA plasmablast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000984	"" []	5408142	\N	\N	EFO	7	EFO	hematopoietic cell	IgA plasmablast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000984	"" []	5996514	\N	\N	EFO	8	EFO	hematopoietic cell	IgA plasmablast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000984	"" []	6147115	\N	\N	EFO	8	EFO	cell type	IgA plasmablast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000984	"" []	6550341	\N	\N	EFO	9	EFO	somatic cell	IgA plasmablast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000984	"" []	6631667	\N	\N	EFO	9	EFO	material entity	IgA plasmablast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000984	"" []	6925217	\N	\N	EFO	10	EFO	experimental factor	IgA plasmablast
CL:0000985	\N	\N	"" []	CL:0000985	"" []	63225	\N	\N	EFO	0	EFO	IgG plasma cell	IgG plasma cell
CL:0000974	CL:0000985	\N	"" []	CL:0000985	"" []	203051	\N	\N	EFO	1	EFO	long lived plasma cell	IgG plasma cell
CL:0000974	CL:0000985	\N	"" []	CL:0000985	"" []	203052	\N	\N	EFO	1	EFO	long lived plasma cell	IgG plasma cell
CL:0000786	CL:0000974	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000985	"" []	556011	\N	\N	EFO	2	EFO	plasma cell	IgG plasma cell
CL:0000786	CL:0000974	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000985	"" []	556012	\N	\N	EFO	2	EFO	plasma cell	IgG plasma cell
CL:0000151	CL:0000786	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000985	"" []	1138691	\N	\N	EFO	3	EFO	secretory cell	IgG plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000985	"" []	1138692	\N	\N	EFO	3	EFO	antibody secreting cell	IgG plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000985	"" []	1138693	\N	\N	EFO	3	EFO	antibody secreting cell	IgG plasma cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000985	"" []	2021768	\N	\N	EFO	4	EFO	cell type	IgG plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000985	"" []	2021769	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgG plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000985	"" []	2021770	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgG plasma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000985	"" []	6631668	\N	\N	EFO	9	EFO	material entity	IgG plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000985	"" []	3176376	\N	\N	EFO	5	EFO	lymphocyte	IgG plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000985	"" []	3176377	\N	\N	EFO	5	EFO	lymphocyte	IgG plasma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000985	"" []	6778580	\N	\N	EFO	10	EFO	experimental factor	IgG plasma cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000985	"" []	4387049	\N	\N	EFO	6	EFO	leukocyte	IgG plasma cell
CL:0002087	CL:0000542	\N	"" []	CL:0000985	"" []	4387050	\N	\N	EFO	6	EFO	nongranular leukocyte	IgG plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000985	"" []	5408144	\N	\N	EFO	7	EFO	hematopoietic cell	IgG plasma cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000985	"" []	5408145	\N	\N	EFO	7	EFO	leukocyte	IgG plasma cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000985	"" []	6147117	\N	\N	EFO	8	EFO	cell type	IgG plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000985	"" []	6147118	\N	\N	EFO	8	EFO	hematopoietic cell	IgG plasma cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000985	"" []	6631669	\N	\N	EFO	9	EFO	somatic cell	IgG plasma cell
CL:0000986	\N	\N	"" []	CL:0000986	"" []	63226	\N	\N	EFO	0	EFO	IgM plasma cell	IgM plasma cell
CL:0000974	CL:0000986	\N	"" []	CL:0000986	"" []	203053	\N	\N	EFO	1	EFO	long lived plasma cell	IgM plasma cell
CL:0000974	CL:0000986	\N	"" []	CL:0000986	"" []	203054	\N	\N	EFO	1	EFO	long lived plasma cell	IgM plasma cell
CL:0000786	CL:0000974	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000986	"" []	556013	\N	\N	EFO	2	EFO	plasma cell	IgM plasma cell
CL:0000786	CL:0000974	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000986	"" []	556014	\N	\N	EFO	2	EFO	plasma cell	IgM plasma cell
CL:0000151	CL:0000786	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000986	"" []	1138694	\N	\N	EFO	3	EFO	secretory cell	IgM plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000986	"" []	1138695	\N	\N	EFO	3	EFO	antibody secreting cell	IgM plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000986	"" []	1138696	\N	\N	EFO	3	EFO	antibody secreting cell	IgM plasma cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000986	"" []	2021771	\N	\N	EFO	4	EFO	cell type	IgM plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000986	"" []	2021772	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgM plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000986	"" []	2021773	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgM plasma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000986	"" []	6631670	\N	\N	EFO	9	EFO	material entity	IgM plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000986	"" []	3176379	\N	\N	EFO	5	EFO	lymphocyte	IgM plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000986	"" []	3176380	\N	\N	EFO	5	EFO	lymphocyte	IgM plasma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000986	"" []	6778581	\N	\N	EFO	10	EFO	experimental factor	IgM plasma cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000986	"" []	4387052	\N	\N	EFO	6	EFO	leukocyte	IgM plasma cell
CL:0002087	CL:0000542	\N	"" []	CL:0000986	"" []	4387053	\N	\N	EFO	6	EFO	nongranular leukocyte	IgM plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000986	"" []	5408146	\N	\N	EFO	7	EFO	hematopoietic cell	IgM plasma cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000986	"" []	5408147	\N	\N	EFO	7	EFO	leukocyte	IgM plasma cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000986	"" []	6147119	\N	\N	EFO	8	EFO	cell type	IgM plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000986	"" []	6147120	\N	\N	EFO	8	EFO	hematopoietic cell	IgM plasma cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000986	"" []	6631671	\N	\N	EFO	9	EFO	somatic cell	IgM plasma cell
CL:0000987	\N	\N	"" []	CL:0000987	"" []	63227	\N	\N	EFO	0	EFO	IgA plasma cell	IgA plasma cell
CL:0000974	CL:0000987	\N	"" []	CL:0000987	"" []	203055	\N	\N	EFO	1	EFO	long lived plasma cell	IgA plasma cell
CL:0000974	CL:0000987	\N	"" []	CL:0000987	"" []	203056	\N	\N	EFO	1	EFO	long lived plasma cell	IgA plasma cell
CL:0000786	CL:0000974	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000987	"" []	556015	\N	\N	EFO	2	EFO	plasma cell	IgA plasma cell
CL:0000786	CL:0000974	\N	"A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." []	CL:0000987	"" []	556016	\N	\N	EFO	2	EFO	plasma cell	IgA plasma cell
CL:0000151	CL:0000786	\N	"A cell that specializes in controlled release of one or more substances." []	CL:0000987	"" []	1138697	\N	\N	EFO	3	EFO	secretory cell	IgA plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000987	"" []	1138698	\N	\N	EFO	3	EFO	antibody secreting cell	IgA plasma cell
CL:0000946	CL:0000786	\N	"" []	CL:0000987	"" []	1138699	\N	\N	EFO	3	EFO	antibody secreting cell	IgA plasma cell
EFO:0000324	CL:0000151	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000987	"" []	2021774	\N	\N	EFO	4	EFO	cell type	IgA plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000987	"" []	2021775	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgA plasma cell
CL:0000945	CL:0000946	\N	"" []	CL:0000987	"" []	2021776	\N	\N	EFO	4	EFO	lymphocyte of B lineage	IgA plasma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000987	"" []	6631672	\N	\N	EFO	9	EFO	material entity	IgA plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000987	"" []	3176382	\N	\N	EFO	5	EFO	lymphocyte	IgA plasma cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0000987	"" []	3176383	\N	\N	EFO	5	EFO	lymphocyte	IgA plasma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000987	"" []	6778582	\N	\N	EFO	10	EFO	experimental factor	IgA plasma cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000987	"" []	4387055	\N	\N	EFO	6	EFO	leukocyte	IgA plasma cell
CL:0002087	CL:0000542	\N	"" []	CL:0000987	"" []	4387056	\N	\N	EFO	6	EFO	nongranular leukocyte	IgA plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000987	"" []	5408148	\N	\N	EFO	7	EFO	hematopoietic cell	IgA plasma cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000987	"" []	5408149	\N	\N	EFO	7	EFO	leukocyte	IgA plasma cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000987	"" []	6147121	\N	\N	EFO	8	EFO	cell type	IgA plasma cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000987	"" []	6147122	\N	\N	EFO	8	EFO	hematopoietic cell	IgA plasma cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000987	"" []	6631673	\N	\N	EFO	9	EFO	somatic cell	IgA plasma cell
CL:0000988	\N	\N	"A cell of a hematopoietic lineage." []	CL:0000988	"A cell of a hematopoietic lineage." []	63228	\N	\N	EFO	0	EFO	hematopoietic cell	hematopoietic cell
CL:0000548	\N	\N	"" []	CL:0000988	"A cell of a hematopoietic lineage." []	194217	\N	ubprop_upper_level	EFO	0	EFO	animal cell	hematopoietic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000988	"A cell of a hematopoietic lineage." []	203057	\N	\N	EFO	1	EFO	somatic cell	hematopoietic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000988	"A cell of a hematopoietic lineage." []	203058	\N	\N	EFO	1	EFO	cell type	hematopoietic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000988	"A cell of a hematopoietic lineage." []	556017	\N	\N	EFO	2	EFO	material entity	hematopoietic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000988	"A cell of a hematopoietic lineage." []	1138700	\N	\N	EFO	3	EFO	experimental factor	hematopoietic cell
CL:0000989	\N	\N	"" []	CL:0000989	"" []	63229	\N	\N	EFO	0	EFO	CD11c-low plasmacytoid dendritic cell	CD11c-low plasmacytoid dendritic cell
CL:0000784	CL:0000989	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000989	"" []	203059	\N	\N	EFO	1	EFO	plasmacytoid dendritic cell	CD11c-low plasmacytoid dendritic cell
CL:0000784	CL:0000989	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000989	"" []	203060	\N	\N	EFO	1	EFO	plasmacytoid dendritic cell	CD11c-low plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000989	"" []	556018	\N	\N	EFO	2	EFO	dendritic cell	CD11c-low plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000989	"" []	556019	\N	\N	EFO	2	EFO	dendritic cell	CD11c-low plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000989	"" []	1138701	\N	\N	EFO	3	EFO	leukocyte	CD11c-low plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000989	"" []	1138702	\N	\N	EFO	3	EFO	leukocyte	CD11c-low plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000989	"" []	2021777	\N	\N	EFO	4	EFO	hematopoietic cell	CD11c-low plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000989	"" []	2021778	\N	\N	EFO	4	EFO	hematopoietic cell	CD11c-low plasmacytoid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000989	"" []	3176384	\N	\N	EFO	5	EFO	cell type	CD11c-low plasmacytoid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000989	"" []	3176385	\N	\N	EFO	5	EFO	somatic cell	CD11c-low plasmacytoid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000989	"" []	4387057	\N	\N	EFO	6	EFO	material entity	CD11c-low plasmacytoid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000989	"" []	5408150	\N	\N	EFO	7	EFO	experimental factor	CD11c-low plasmacytoid dendritic cell
CL:0000990	\N	\N	"" []	CL:0000990	"" []	63230	\N	\N	EFO	0	EFO	conventional dendritic cell	conventional dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000990	"" []	203061	\N	\N	EFO	1	EFO	dendritic cell	conventional dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000990	"" []	203062	\N	\N	EFO	1	EFO	dendritic cell	conventional dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000990	"" []	556020	\N	\N	EFO	2	EFO	leukocyte	conventional dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000990	"" []	556021	\N	\N	EFO	2	EFO	leukocyte	conventional dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000990	"" []	1138703	\N	\N	EFO	3	EFO	hematopoietic cell	conventional dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000990	"" []	1138704	\N	\N	EFO	3	EFO	hematopoietic cell	conventional dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000990	"" []	2021779	\N	\N	EFO	4	EFO	cell type	conventional dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000990	"" []	2021780	\N	\N	EFO	4	EFO	somatic cell	conventional dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000990	"" []	3176386	\N	\N	EFO	5	EFO	material entity	conventional dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000990	"" []	4387058	\N	\N	EFO	6	EFO	experimental factor	conventional dendritic cell
CL:0000991	\N	\N	"" []	CL:0000991	"" []	63231	\N	\N	EFO	0	EFO	CD11c-negative plasmacytoid dendritic cell	CD11c-negative plasmacytoid dendritic cell
CL:0000784	CL:0000991	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000991	"" []	203063	\N	\N	EFO	1	EFO	plasmacytoid dendritic cell	CD11c-negative plasmacytoid dendritic cell
CL:0000784	CL:0000991	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000991	"" []	203064	\N	\N	EFO	1	EFO	plasmacytoid dendritic cell	CD11c-negative plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000991	"" []	556022	\N	\N	EFO	2	EFO	dendritic cell	CD11c-negative plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000991	"" []	556023	\N	\N	EFO	2	EFO	dendritic cell	CD11c-negative plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000991	"" []	1138705	\N	\N	EFO	3	EFO	leukocyte	CD11c-negative plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000991	"" []	1138706	\N	\N	EFO	3	EFO	leukocyte	CD11c-negative plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000991	"" []	2021781	\N	\N	EFO	4	EFO	hematopoietic cell	CD11c-negative plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000991	"" []	2021782	\N	\N	EFO	4	EFO	hematopoietic cell	CD11c-negative plasmacytoid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000991	"" []	3176387	\N	\N	EFO	5	EFO	cell type	CD11c-negative plasmacytoid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000991	"" []	3176388	\N	\N	EFO	5	EFO	somatic cell	CD11c-negative plasmacytoid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000991	"" []	4387059	\N	\N	EFO	6	EFO	material entity	CD11c-negative plasmacytoid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000991	"" []	5408151	\N	\N	EFO	7	EFO	experimental factor	CD11c-negative plasmacytoid dendritic cell
CL:0000992	\N	\N	"" []	CL:0000992	"" []	63232	\N	\N	EFO	0	EFO	immature CD11c-low plasmacytoid dendritic cell	immature CD11c-low plasmacytoid dendritic cell
CL:0000766	CL:0000992	\N	"" []	CL:0000992	"" []	203065	\N	\N	EFO	1	EFO	myeloid leukocyte	immature CD11c-low plasmacytoid dendritic cell
CL:0000989	CL:0000992	\N	"" []	CL:0000992	"" []	203066	\N	\N	EFO	1	EFO	CD11c-low plasmacytoid dendritic cell	immature CD11c-low plasmacytoid dendritic cell
CL:0000989	CL:0000992	\N	"" []	CL:0000992	"" []	203067	\N	\N	EFO	1	EFO	CD11c-low plasmacytoid dendritic cell	immature CD11c-low plasmacytoid dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000992	"" []	556024	\N	\N	EFO	2	EFO	leukocyte	immature CD11c-low plasmacytoid dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000992	"" []	556025	\N	\N	EFO	2	EFO	myeloid cell	immature CD11c-low plasmacytoid dendritic cell
CL:0000784	CL:0000989	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000992	"" []	556026	\N	\N	EFO	2	EFO	plasmacytoid dendritic cell	immature CD11c-low plasmacytoid dendritic cell
CL:0000784	CL:0000989	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000992	"" []	556027	\N	\N	EFO	2	EFO	plasmacytoid dendritic cell	immature CD11c-low plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000992	"" []	3176390	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD11c-low plasmacytoid dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000992	"" []	1138708	\N	\N	EFO	3	EFO	hematopoietic cell	immature CD11c-low plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000992	"" []	1138709	\N	\N	EFO	3	EFO	dendritic cell	immature CD11c-low plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000992	"" []	1138710	\N	\N	EFO	3	EFO	dendritic cell	immature CD11c-low plasmacytoid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000992	"" []	4066655	\N	\N	EFO	6	EFO	somatic cell	immature CD11c-low plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000992	"" []	2021784	\N	\N	EFO	4	EFO	leukocyte	immature CD11c-low plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000992	"" []	2021785	\N	\N	EFO	4	EFO	leukocyte	immature CD11c-low plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000992	"" []	3176389	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD11c-low plasmacytoid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000992	"" []	4387060	\N	\N	EFO	6	EFO	cell type	immature CD11c-low plasmacytoid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000992	"" []	5408152	\N	\N	EFO	7	EFO	material entity	immature CD11c-low plasmacytoid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000992	"" []	6147123	\N	\N	EFO	8	EFO	experimental factor	immature CD11c-low plasmacytoid dendritic cell
CL:0000993	\N	\N	"" []	CL:0000993	"" []	63233	\N	\N	EFO	0	EFO	mature CD11c-low plasmacytoid dendritic cell	mature CD11c-low plasmacytoid dendritic cell
CL:0000766	CL:0000993	\N	"" []	CL:0000993	"" []	203068	\N	\N	EFO	1	EFO	myeloid leukocyte	mature CD11c-low plasmacytoid dendritic cell
CL:0000989	CL:0000993	\N	"" []	CL:0000993	"" []	203069	\N	\N	EFO	1	EFO	CD11c-low plasmacytoid dendritic cell	mature CD11c-low plasmacytoid dendritic cell
CL:0000989	CL:0000993	\N	"" []	CL:0000993	"" []	203070	\N	\N	EFO	1	EFO	CD11c-low plasmacytoid dendritic cell	mature CD11c-low plasmacytoid dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000993	"" []	556028	\N	\N	EFO	2	EFO	leukocyte	mature CD11c-low plasmacytoid dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000993	"" []	556029	\N	\N	EFO	2	EFO	myeloid cell	mature CD11c-low plasmacytoid dendritic cell
CL:0000784	CL:0000989	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000993	"" []	556030	\N	\N	EFO	2	EFO	plasmacytoid dendritic cell	mature CD11c-low plasmacytoid dendritic cell
CL:0000784	CL:0000989	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000993	"" []	556031	\N	\N	EFO	2	EFO	plasmacytoid dendritic cell	mature CD11c-low plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000993	"" []	3176392	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD11c-low plasmacytoid dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000993	"" []	1138712	\N	\N	EFO	3	EFO	hematopoietic cell	mature CD11c-low plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000993	"" []	1138713	\N	\N	EFO	3	EFO	dendritic cell	mature CD11c-low plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000993	"" []	1138714	\N	\N	EFO	3	EFO	dendritic cell	mature CD11c-low plasmacytoid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000993	"" []	4066656	\N	\N	EFO	6	EFO	somatic cell	mature CD11c-low plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000993	"" []	2021787	\N	\N	EFO	4	EFO	leukocyte	mature CD11c-low plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000993	"" []	2021788	\N	\N	EFO	4	EFO	leukocyte	mature CD11c-low plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000993	"" []	3176391	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD11c-low plasmacytoid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000993	"" []	4387061	\N	\N	EFO	6	EFO	cell type	mature CD11c-low plasmacytoid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000993	"" []	5408153	\N	\N	EFO	7	EFO	material entity	mature CD11c-low plasmacytoid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000993	"" []	6147124	\N	\N	EFO	8	EFO	experimental factor	mature CD11c-low plasmacytoid dendritic cell
CL:0000994	\N	\N	"" []	CL:0000994	"" []	63234	\N	\N	EFO	0	EFO	immature CD11c-negative plasmacytoid dendritic cell	immature CD11c-negative plasmacytoid dendritic cell
CL:0000991	CL:0000994	\N	"" []	CL:0000994	"" []	203071	\N	\N	EFO	1	EFO	CD11c-negative plasmacytoid dendritic cell	immature CD11c-negative plasmacytoid dendritic cell
CL:0000991	CL:0000994	\N	"" []	CL:0000994	"" []	203072	\N	\N	EFO	1	EFO	CD11c-negative plasmacytoid dendritic cell	immature CD11c-negative plasmacytoid dendritic cell
CL:0000784	CL:0000991	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000994	"" []	556032	\N	\N	EFO	2	EFO	plasmacytoid dendritic cell	immature CD11c-negative plasmacytoid dendritic cell
CL:0000784	CL:0000991	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000994	"" []	556033	\N	\N	EFO	2	EFO	plasmacytoid dendritic cell	immature CD11c-negative plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000994	"" []	1138715	\N	\N	EFO	3	EFO	dendritic cell	immature CD11c-negative plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000994	"" []	1138716	\N	\N	EFO	3	EFO	dendritic cell	immature CD11c-negative plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000994	"" []	2021789	\N	\N	EFO	4	EFO	leukocyte	immature CD11c-negative plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000994	"" []	2021790	\N	\N	EFO	4	EFO	leukocyte	immature CD11c-negative plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000994	"" []	3176393	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD11c-negative plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000994	"" []	3176394	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD11c-negative plasmacytoid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000994	"" []	4387062	\N	\N	EFO	6	EFO	cell type	immature CD11c-negative plasmacytoid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000994	"" []	4387063	\N	\N	EFO	6	EFO	somatic cell	immature CD11c-negative plasmacytoid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000994	"" []	5408154	\N	\N	EFO	7	EFO	material entity	immature CD11c-negative plasmacytoid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000994	"" []	6147125	\N	\N	EFO	8	EFO	experimental factor	immature CD11c-negative plasmacytoid dendritic cell
CL:0000995	\N	\N	"" []	CL:0000995	"" []	63235	\N	\N	EFO	0	EFO	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor
CL:0001060	\N	\N	"A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers." [GOC:tfm, PMID:19022770]	CL:0000995	"" []	194218	\N	\N	EFO	0	EFO	hematopoietic oligopotent progenitor cell, lineage-negative	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor
CL:0002032	CL:0000995	\N	"" []	CL:0000995	"" []	203073	\N	\N	EFO	1	EFO	hematopoietic oligopotent progenitor cell	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0000995	"" []	556034	\N	\N	EFO	2	EFO	hematopoietic cell	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000995	"" []	1138717	\N	\N	EFO	3	EFO	cell type	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000995	"" []	2021791	\N	\N	EFO	4	EFO	material entity	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000995	"" []	3176395	\N	\N	EFO	5	EFO	experimental factor	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor
CL:0000996	\N	\N	"" []	CL:0000996	"" []	63236	\N	\N	EFO	0	EFO	mature CD11c-negative plasmacytoid dendritic cell	mature CD11c-negative plasmacytoid dendritic cell
CL:0000991	CL:0000996	\N	"" []	CL:0000996	"" []	203074	\N	\N	EFO	1	EFO	CD11c-negative plasmacytoid dendritic cell	mature CD11c-negative plasmacytoid dendritic cell
CL:0000991	CL:0000996	\N	"" []	CL:0000996	"" []	203075	\N	\N	EFO	1	EFO	CD11c-negative plasmacytoid dendritic cell	mature CD11c-negative plasmacytoid dendritic cell
CL:0000784	CL:0000991	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000996	"" []	556035	\N	\N	EFO	2	EFO	plasmacytoid dendritic cell	mature CD11c-negative plasmacytoid dendritic cell
CL:0000784	CL:0000991	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0000996	"" []	556036	\N	\N	EFO	2	EFO	plasmacytoid dendritic cell	mature CD11c-negative plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000996	"" []	1138718	\N	\N	EFO	3	EFO	dendritic cell	mature CD11c-negative plasmacytoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000996	"" []	1138719	\N	\N	EFO	3	EFO	dendritic cell	mature CD11c-negative plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000996	"" []	2021792	\N	\N	EFO	4	EFO	leukocyte	mature CD11c-negative plasmacytoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000996	"" []	2021793	\N	\N	EFO	4	EFO	leukocyte	mature CD11c-negative plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000996	"" []	3176396	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD11c-negative plasmacytoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000996	"" []	3176397	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD11c-negative plasmacytoid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000996	"" []	4387064	\N	\N	EFO	6	EFO	cell type	mature CD11c-negative plasmacytoid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000996	"" []	4387065	\N	\N	EFO	6	EFO	somatic cell	mature CD11c-negative plasmacytoid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000996	"" []	5408155	\N	\N	EFO	7	EFO	material entity	mature CD11c-negative plasmacytoid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000996	"" []	6147126	\N	\N	EFO	8	EFO	experimental factor	mature CD11c-negative plasmacytoid dendritic cell
CL:0000997	\N	\N	"" []	CL:0000997	"" []	63237	\N	\N	EFO	0	EFO	immature CD8_alpha-negative CD11b-positive dendritic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000840	CL:0000997	\N	"" []	CL:0000997	"" []	203076	\N	\N	EFO	1	EFO	immature conventional dendritic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000999	CL:0000997	\N	"" []	CL:0000997	"" []	203077	\N	\N	EFO	1	EFO	CD4-positive CD11b-positive dendritic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000999	CL:0000997	\N	"" []	CL:0000997	"" []	203078	\N	\N	EFO	1	EFO	CD4-positive CD11b-positive dendritic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000766	CL:0000840	\N	"" []	CL:0000997	"" []	556037	\N	\N	EFO	2	EFO	myeloid leukocyte	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000990	CL:0000840	\N	"" []	CL:0000997	"" []	556038	\N	\N	EFO	2	EFO	conventional dendritic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0002465	CL:0000999	\N	"" []	CL:0000997	"" []	556039	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000766	CL:0000999	\N	"" []	CL:0000997	"" []	556040	\N	\N	EFO	2	EFO	myeloid leukocyte	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0002465	CL:0000999	\N	"" []	CL:0000997	"" []	556041	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000997	"" []	1138720	\N	\N	EFO	3	EFO	leukocyte	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000997	"" []	1138721	\N	\N	EFO	3	EFO	myeloid cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000997	"" []	2021798	\N	\N	EFO	4	EFO	dendritic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0000997	"" []	1138723	\N	\N	EFO	3	EFO	conventional dendritic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0000997	"" []	1138724	\N	\N	EFO	3	EFO	conventional dendritic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000997	"" []	4132440	\N	\N	EFO	6	EFO	hematopoietic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000997	"" []	2021795	\N	\N	EFO	4	EFO	hematopoietic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000997	"" []	2999184	\N	\N	EFO	5	EFO	leukocyte	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000997	"" []	2021797	\N	\N	EFO	4	EFO	dendritic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000997	"" []	5059272	\N	\N	EFO	7	EFO	somatic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000997	"" []	3176400	\N	\N	EFO	5	EFO	leukocyte	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000997	"" []	4387066	\N	\N	EFO	6	EFO	hematopoietic cell	immature CD8_alpha-negative CD11b-positive dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000997	"" []	5408156	\N	\N	EFO	7	EFO	cell type	immature CD8_alpha-negative CD11b-positive dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000997	"" []	6147127	\N	\N	EFO	8	EFO	material entity	immature CD8_alpha-negative CD11b-positive dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000997	"" []	6631674	\N	\N	EFO	9	EFO	experimental factor	immature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000998	\N	\N	"" []	CL:0000998	"" []	63238	\N	\N	EFO	0	EFO	CD8_alpha-negative CD11b-negative dendritic cell	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000766	CL:0000998	\N	"" []	CL:0000998	"" []	203079	\N	\N	EFO	1	EFO	myeloid leukocyte	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000990	CL:0000998	\N	"" []	CL:0000998	"" []	203080	\N	\N	EFO	1	EFO	conventional dendritic cell	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000990	CL:0000998	\N	"" []	CL:0000998	"" []	203081	\N	\N	EFO	1	EFO	conventional dendritic cell	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000998	"" []	556042	\N	\N	EFO	2	EFO	leukocyte	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000998	"" []	556043	\N	\N	EFO	2	EFO	myeloid cell	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000998	"" []	556044	\N	\N	EFO	2	EFO	dendritic cell	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000998	"" []	556045	\N	\N	EFO	2	EFO	dendritic cell	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000998	"" []	2021801	\N	\N	EFO	4	EFO	hematopoietic cell	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000998	"" []	1138726	\N	\N	EFO	3	EFO	hematopoietic cell	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000998	"" []	1138727	\N	\N	EFO	3	EFO	leukocyte	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000998	"" []	1138728	\N	\N	EFO	3	EFO	leukocyte	CD8_alpha-negative CD11b-negative dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000998	"" []	2999185	\N	\N	EFO	5	EFO	somatic cell	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000998	"" []	2021800	\N	\N	EFO	4	EFO	hematopoietic cell	CD8_alpha-negative CD11b-negative dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000998	"" []	3176401	\N	\N	EFO	5	EFO	cell type	CD8_alpha-negative CD11b-negative dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000998	"" []	4387067	\N	\N	EFO	6	EFO	material entity	CD8_alpha-negative CD11b-negative dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000998	"" []	5408157	\N	\N	EFO	7	EFO	experimental factor	CD8_alpha-negative CD11b-negative dendritic cell
CL:0000999	\N	\N	"" []	CL:0000999	"" []	63239	\N	\N	EFO	0	EFO	CD4-positive CD11b-positive dendritic cell	CD4-positive CD11b-positive dendritic cell
CL:0000766	CL:0000999	\N	"" []	CL:0000999	"" []	203082	\N	\N	EFO	1	EFO	myeloid leukocyte	CD4-positive CD11b-positive dendritic cell
CL:0002465	CL:0000999	\N	"" []	CL:0000999	"" []	203083	\N	\N	EFO	1	EFO	CD11b-positive dendritic cell	CD4-positive CD11b-positive dendritic cell
CL:0002465	CL:0000999	\N	"" []	CL:0000999	"" []	203084	\N	\N	EFO	1	EFO	CD11b-positive dendritic cell	CD4-positive CD11b-positive dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000999	"" []	556046	\N	\N	EFO	2	EFO	leukocyte	CD4-positive CD11b-positive dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0000999	"" []	556047	\N	\N	EFO	2	EFO	myeloid cell	CD4-positive CD11b-positive dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0000999	"" []	556048	\N	\N	EFO	2	EFO	conventional dendritic cell	CD4-positive CD11b-positive dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0000999	"" []	556049	\N	\N	EFO	2	EFO	conventional dendritic cell	CD4-positive CD11b-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000999	"" []	3176403	\N	\N	EFO	5	EFO	hematopoietic cell	CD4-positive CD11b-positive dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0000999	"" []	1138730	\N	\N	EFO	3	EFO	hematopoietic cell	CD4-positive CD11b-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000999	"" []	1138731	\N	\N	EFO	3	EFO	dendritic cell	CD4-positive CD11b-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0000999	"" []	1138732	\N	\N	EFO	3	EFO	dendritic cell	CD4-positive CD11b-positive dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0000999	"" []	4066657	\N	\N	EFO	6	EFO	somatic cell	CD4-positive CD11b-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000999	"" []	2021803	\N	\N	EFO	4	EFO	leukocyte	CD4-positive CD11b-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0000999	"" []	2021804	\N	\N	EFO	4	EFO	leukocyte	CD4-positive CD11b-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0000999	"" []	3176402	\N	\N	EFO	5	EFO	hematopoietic cell	CD4-positive CD11b-positive dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0000999	"" []	4387068	\N	\N	EFO	6	EFO	cell type	CD4-positive CD11b-positive dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0000999	"" []	5408158	\N	\N	EFO	7	EFO	material entity	CD4-positive CD11b-positive dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0000999	"" []	6147128	\N	\N	EFO	8	EFO	experimental factor	CD4-positive CD11b-positive dendritic cell
CL:0001000	\N	\N	"" []	CL:0001000	"" []	63240	\N	\N	EFO	0	EFO	CD8_alpha-positive CD11b-negative dendritic cell	CD8_alpha-positive CD11b-negative dendritic cell
CL:0000766	CL:0001000	\N	"" []	CL:0001000	"" []	203085	\N	\N	EFO	1	EFO	myeloid leukocyte	CD8_alpha-positive CD11b-negative dendritic cell
CL:0000990	CL:0001000	\N	"" []	CL:0001000	"" []	203086	\N	\N	EFO	1	EFO	conventional dendritic cell	CD8_alpha-positive CD11b-negative dendritic cell
CL:0000990	CL:0001000	\N	"" []	CL:0001000	"" []	203087	\N	\N	EFO	1	EFO	conventional dendritic cell	CD8_alpha-positive CD11b-negative dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001000	"" []	556050	\N	\N	EFO	2	EFO	leukocyte	CD8_alpha-positive CD11b-negative dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001000	"" []	556051	\N	\N	EFO	2	EFO	myeloid cell	CD8_alpha-positive CD11b-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001000	"" []	556052	\N	\N	EFO	2	EFO	dendritic cell	CD8_alpha-positive CD11b-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001000	"" []	556053	\N	\N	EFO	2	EFO	dendritic cell	CD8_alpha-positive CD11b-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001000	"" []	2021807	\N	\N	EFO	4	EFO	hematopoietic cell	CD8_alpha-positive CD11b-negative dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001000	"" []	1138734	\N	\N	EFO	3	EFO	hematopoietic cell	CD8_alpha-positive CD11b-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001000	"" []	1138735	\N	\N	EFO	3	EFO	leukocyte	CD8_alpha-positive CD11b-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001000	"" []	1138736	\N	\N	EFO	3	EFO	leukocyte	CD8_alpha-positive CD11b-negative dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001000	"" []	2999186	\N	\N	EFO	5	EFO	somatic cell	CD8_alpha-positive CD11b-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001000	"" []	2021806	\N	\N	EFO	4	EFO	hematopoietic cell	CD8_alpha-positive CD11b-negative dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001000	"" []	3176404	\N	\N	EFO	5	EFO	cell type	CD8_alpha-positive CD11b-negative dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001000	"" []	4387069	\N	\N	EFO	6	EFO	material entity	CD8_alpha-positive CD11b-negative dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001000	"" []	5408159	\N	\N	EFO	7	EFO	experimental factor	CD8_alpha-positive CD11b-negative dendritic cell
CL:0001001	\N	\N	"" []	CL:0001001	"" []	63241	\N	\N	EFO	0	EFO	immature CD8_alpha-negative CD11b-negative dendritic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000840	CL:0001001	\N	"" []	CL:0001001	"" []	203088	\N	\N	EFO	1	EFO	immature conventional dendritic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000998	CL:0001001	\N	"" []	CL:0001001	"" []	203089	\N	\N	EFO	1	EFO	CD8_alpha-negative CD11b-negative dendritic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000998	CL:0001001	\N	"" []	CL:0001001	"" []	203090	\N	\N	EFO	1	EFO	CD8_alpha-negative CD11b-negative dendritic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000766	CL:0000840	\N	"" []	CL:0001001	"" []	556054	\N	\N	EFO	2	EFO	myeloid leukocyte	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000990	CL:0000840	\N	"" []	CL:0001001	"" []	556055	\N	\N	EFO	2	EFO	conventional dendritic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000990	CL:0000998	\N	"" []	CL:0001001	"" []	556056	\N	\N	EFO	2	EFO	conventional dendritic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000766	CL:0000998	\N	"" []	CL:0001001	"" []	556057	\N	\N	EFO	2	EFO	myeloid leukocyte	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000990	CL:0000998	\N	"" []	CL:0001001	"" []	556058	\N	\N	EFO	2	EFO	conventional dendritic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001001	"" []	1138737	\N	\N	EFO	3	EFO	leukocyte	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001001	"" []	1138738	\N	\N	EFO	3	EFO	myeloid cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001001	"" []	1138739	\N	\N	EFO	3	EFO	dendritic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001001	"" []	1138740	\N	\N	EFO	3	EFO	dendritic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001001	"" []	3176406	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001001	"" []	2021809	\N	\N	EFO	4	EFO	hematopoietic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001001	"" []	2021810	\N	\N	EFO	4	EFO	leukocyte	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001001	"" []	2021811	\N	\N	EFO	4	EFO	leukocyte	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001001	"" []	4132441	\N	\N	EFO	6	EFO	somatic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001001	"" []	3176407	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD8_alpha-negative CD11b-negative dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001001	"" []	4387070	\N	\N	EFO	6	EFO	cell type	immature CD8_alpha-negative CD11b-negative dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001001	"" []	5408160	\N	\N	EFO	7	EFO	material entity	immature CD8_alpha-negative CD11b-negative dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001001	"" []	6147129	\N	\N	EFO	8	EFO	experimental factor	immature CD8_alpha-negative CD11b-negative dendritic cell
CL:0001002	\N	\N	"" []	CL:0001002	"" []	63242	\N	\N	EFO	0	EFO	mature CD8_alpha-negative CD11b-negative dendritic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000841	CL:0001002	\N	"" []	CL:0001002	"" []	203091	\N	\N	EFO	1	EFO	mature conventional dendritic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000998	CL:0001002	\N	"" []	CL:0001002	"" []	203092	\N	\N	EFO	1	EFO	CD8_alpha-negative CD11b-negative dendritic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000998	CL:0001002	\N	"" []	CL:0001002	"" []	203093	\N	\N	EFO	1	EFO	CD8_alpha-negative CD11b-negative dendritic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000766	CL:0000841	\N	"" []	CL:0001002	"" []	556059	\N	\N	EFO	2	EFO	myeloid leukocyte	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000990	CL:0000841	\N	"" []	CL:0001002	"" []	556060	\N	\N	EFO	2	EFO	conventional dendritic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000990	CL:0000998	\N	"" []	CL:0001002	"" []	556061	\N	\N	EFO	2	EFO	conventional dendritic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000766	CL:0000998	\N	"" []	CL:0001002	"" []	556062	\N	\N	EFO	2	EFO	myeloid leukocyte	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000990	CL:0000998	\N	"" []	CL:0001002	"" []	556063	\N	\N	EFO	2	EFO	conventional dendritic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001002	"" []	1138741	\N	\N	EFO	3	EFO	leukocyte	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001002	"" []	1138742	\N	\N	EFO	3	EFO	myeloid cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001002	"" []	1138743	\N	\N	EFO	3	EFO	dendritic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001002	"" []	1138744	\N	\N	EFO	3	EFO	dendritic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001002	"" []	3176409	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001002	"" []	2021813	\N	\N	EFO	4	EFO	hematopoietic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001002	"" []	2021814	\N	\N	EFO	4	EFO	leukocyte	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001002	"" []	2021815	\N	\N	EFO	4	EFO	leukocyte	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001002	"" []	4132442	\N	\N	EFO	6	EFO	somatic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001002	"" []	3176410	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD8_alpha-negative CD11b-negative dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001002	"" []	4387071	\N	\N	EFO	6	EFO	cell type	mature CD8_alpha-negative CD11b-negative dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001002	"" []	5408161	\N	\N	EFO	7	EFO	material entity	mature CD8_alpha-negative CD11b-negative dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001002	"" []	6147130	\N	\N	EFO	8	EFO	experimental factor	mature CD8_alpha-negative CD11b-negative dendritic cell
CL:0001003	\N	\N	"" []	CL:0001003	"" []	63243	\N	\N	EFO	0	EFO	mature CD8_alpha-negative CD11b-positive dendritic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000841	CL:0001003	\N	"" []	CL:0001003	"" []	203094	\N	\N	EFO	1	EFO	mature conventional dendritic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000999	CL:0001003	\N	"" []	CL:0001003	"" []	203095	\N	\N	EFO	1	EFO	CD4-positive CD11b-positive dendritic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000999	CL:0001003	\N	"" []	CL:0001003	"" []	203096	\N	\N	EFO	1	EFO	CD4-positive CD11b-positive dendritic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000766	CL:0000841	\N	"" []	CL:0001003	"" []	556064	\N	\N	EFO	2	EFO	myeloid leukocyte	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000990	CL:0000841	\N	"" []	CL:0001003	"" []	556065	\N	\N	EFO	2	EFO	conventional dendritic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0002465	CL:0000999	\N	"" []	CL:0001003	"" []	556066	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000766	CL:0000999	\N	"" []	CL:0001003	"" []	556067	\N	\N	EFO	2	EFO	myeloid leukocyte	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0002465	CL:0000999	\N	"" []	CL:0001003	"" []	556068	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001003	"" []	1138745	\N	\N	EFO	3	EFO	leukocyte	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001003	"" []	1138746	\N	\N	EFO	3	EFO	myeloid cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001003	"" []	2021820	\N	\N	EFO	4	EFO	dendritic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0001003	"" []	1138748	\N	\N	EFO	3	EFO	conventional dendritic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0001003	"" []	1138749	\N	\N	EFO	3	EFO	conventional dendritic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001003	"" []	4132444	\N	\N	EFO	6	EFO	hematopoietic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001003	"" []	2021817	\N	\N	EFO	4	EFO	hematopoietic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001003	"" []	2999187	\N	\N	EFO	5	EFO	leukocyte	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001003	"" []	2021819	\N	\N	EFO	4	EFO	dendritic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001003	"" []	5059273	\N	\N	EFO	7	EFO	somatic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001003	"" []	3176413	\N	\N	EFO	5	EFO	leukocyte	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001003	"" []	4387072	\N	\N	EFO	6	EFO	hematopoietic cell	mature CD8_alpha-negative CD11b-positive dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001003	"" []	5408162	\N	\N	EFO	7	EFO	cell type	mature CD8_alpha-negative CD11b-positive dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001003	"" []	6147131	\N	\N	EFO	8	EFO	material entity	mature CD8_alpha-negative CD11b-positive dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001003	"" []	6631675	\N	\N	EFO	9	EFO	experimental factor	mature CD8_alpha-negative CD11b-positive dendritic cell
CL:0001004	\N	\N	"" []	CL:0001004	"" []	63244	\N	\N	EFO	0	EFO	immature CD8_alpha-positive CD11b-negative dendritic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000840	CL:0001004	\N	"" []	CL:0001004	"" []	203097	\N	\N	EFO	1	EFO	immature conventional dendritic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0001000	CL:0001004	\N	"" []	CL:0001004	"" []	203098	\N	\N	EFO	1	EFO	CD8_alpha-positive CD11b-negative dendritic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0001000	CL:0001004	\N	"" []	CL:0001004	"" []	203099	\N	\N	EFO	1	EFO	CD8_alpha-positive CD11b-negative dendritic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000766	CL:0000840	\N	"" []	CL:0001004	"" []	556069	\N	\N	EFO	2	EFO	myeloid leukocyte	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000990	CL:0000840	\N	"" []	CL:0001004	"" []	556070	\N	\N	EFO	2	EFO	conventional dendritic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000990	CL:0001000	\N	"" []	CL:0001004	"" []	556071	\N	\N	EFO	2	EFO	conventional dendritic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000766	CL:0001000	\N	"" []	CL:0001004	"" []	556072	\N	\N	EFO	2	EFO	myeloid leukocyte	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000990	CL:0001000	\N	"" []	CL:0001004	"" []	556073	\N	\N	EFO	2	EFO	conventional dendritic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001004	"" []	1138750	\N	\N	EFO	3	EFO	leukocyte	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001004	"" []	1138751	\N	\N	EFO	3	EFO	myeloid cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001004	"" []	1138752	\N	\N	EFO	3	EFO	dendritic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001004	"" []	1138753	\N	\N	EFO	3	EFO	dendritic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001004	"" []	3176415	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001004	"" []	2021822	\N	\N	EFO	4	EFO	hematopoietic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001004	"" []	2021823	\N	\N	EFO	4	EFO	leukocyte	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001004	"" []	2021824	\N	\N	EFO	4	EFO	leukocyte	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001004	"" []	4132445	\N	\N	EFO	6	EFO	somatic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001004	"" []	3176416	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD8_alpha-positive CD11b-negative dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001004	"" []	4387073	\N	\N	EFO	6	EFO	cell type	immature CD8_alpha-positive CD11b-negative dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001004	"" []	5408163	\N	\N	EFO	7	EFO	material entity	immature CD8_alpha-positive CD11b-negative dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001004	"" []	6147132	\N	\N	EFO	8	EFO	experimental factor	immature CD8_alpha-positive CD11b-negative dendritic cell
CL:0001005	\N	\N	"" []	CL:0001005	"" []	63245	\N	\N	EFO	0	EFO	mature CD8_alpha-positive CD11b-negative dendritic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000841	CL:0001005	\N	"" []	CL:0001005	"" []	203100	\N	\N	EFO	1	EFO	mature conventional dendritic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0001000	CL:0001005	\N	"" []	CL:0001005	"" []	203101	\N	\N	EFO	1	EFO	CD8_alpha-positive CD11b-negative dendritic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0001000	CL:0001005	\N	"" []	CL:0001005	"" []	203102	\N	\N	EFO	1	EFO	CD8_alpha-positive CD11b-negative dendritic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000766	CL:0000841	\N	"" []	CL:0001005	"" []	556074	\N	\N	EFO	2	EFO	myeloid leukocyte	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000990	CL:0000841	\N	"" []	CL:0001005	"" []	556075	\N	\N	EFO	2	EFO	conventional dendritic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000990	CL:0001000	\N	"" []	CL:0001005	"" []	556076	\N	\N	EFO	2	EFO	conventional dendritic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000766	CL:0001000	\N	"" []	CL:0001005	"" []	556077	\N	\N	EFO	2	EFO	myeloid leukocyte	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000990	CL:0001000	\N	"" []	CL:0001005	"" []	556078	\N	\N	EFO	2	EFO	conventional dendritic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001005	"" []	1138754	\N	\N	EFO	3	EFO	leukocyte	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001005	"" []	1138755	\N	\N	EFO	3	EFO	myeloid cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001005	"" []	1138756	\N	\N	EFO	3	EFO	dendritic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001005	"" []	1138757	\N	\N	EFO	3	EFO	dendritic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001005	"" []	3176418	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001005	"" []	2021826	\N	\N	EFO	4	EFO	hematopoietic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001005	"" []	2021827	\N	\N	EFO	4	EFO	leukocyte	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001005	"" []	2021828	\N	\N	EFO	4	EFO	leukocyte	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001005	"" []	4132446	\N	\N	EFO	6	EFO	somatic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001005	"" []	3176419	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD8_alpha-positive CD11b-negative dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001005	"" []	4387074	\N	\N	EFO	6	EFO	cell type	mature CD8_alpha-positive CD11b-negative dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001005	"" []	5408164	\N	\N	EFO	7	EFO	material entity	mature CD8_alpha-positive CD11b-negative dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001005	"" []	6147133	\N	\N	EFO	8	EFO	experimental factor	mature CD8_alpha-positive CD11b-negative dendritic cell
CL:0001006	\N	\N	"" []	CL:0001006	"" []	63246	\N	\N	EFO	0	EFO	dermal dendritic cell	dermal dendritic cell
CL:0000990	CL:0001006	\N	"" []	CL:0001006	"" []	203103	\N	\N	EFO	1	EFO	conventional dendritic cell	dermal dendritic cell
CL:0002465	CL:0001006	\N	"" []	CL:0001006	"" []	203104	\N	\N	EFO	1	EFO	CD11b-positive dendritic cell	dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001006	"" []	556079	\N	\N	EFO	2	EFO	dendritic cell	dermal dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0001006	"" []	556080	\N	\N	EFO	2	EFO	conventional dendritic cell	dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001006	"" []	1138758	\N	\N	EFO	3	EFO	leukocyte	dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001006	"" []	1138759	\N	\N	EFO	3	EFO	dendritic cell	dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001006	"" []	2021829	\N	\N	EFO	4	EFO	hematopoietic cell	dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001006	"" []	2021830	\N	\N	EFO	4	EFO	leukocyte	dermal dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001006	"" []	3176420	\N	\N	EFO	5	EFO	cell type	dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001006	"" []	3176421	\N	\N	EFO	5	EFO	hematopoietic cell	dermal dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001006	"" []	4387075	\N	\N	EFO	6	EFO	material entity	dermal dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001006	"" []	4387076	\N	\N	EFO	6	EFO	somatic cell	dermal dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001006	"" []	5408165	\N	\N	EFO	7	EFO	experimental factor	dermal dendritic cell
CL:0001007	\N	\N	"" []	CL:0001007	"" []	63247	\N	\N	EFO	0	EFO	interstitial dendritic cell	interstitial dendritic cell
CL:0000990	CL:0001007	\N	"" []	CL:0001007	"" []	203105	\N	\N	EFO	1	EFO	conventional dendritic cell	interstitial dendritic cell
CL:0002465	CL:0001007	\N	"" []	CL:0001007	"" []	203106	\N	\N	EFO	1	EFO	CD11b-positive dendritic cell	interstitial dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001007	"" []	556081	\N	\N	EFO	2	EFO	dendritic cell	interstitial dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0001007	"" []	556082	\N	\N	EFO	2	EFO	conventional dendritic cell	interstitial dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001007	"" []	1138760	\N	\N	EFO	3	EFO	leukocyte	interstitial dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001007	"" []	1138761	\N	\N	EFO	3	EFO	dendritic cell	interstitial dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001007	"" []	2021831	\N	\N	EFO	4	EFO	hematopoietic cell	interstitial dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001007	"" []	2021832	\N	\N	EFO	4	EFO	leukocyte	interstitial dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001007	"" []	3176422	\N	\N	EFO	5	EFO	cell type	interstitial dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001007	"" []	3176423	\N	\N	EFO	5	EFO	hematopoietic cell	interstitial dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001007	"" []	4387077	\N	\N	EFO	6	EFO	material entity	interstitial dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001007	"" []	4387078	\N	\N	EFO	6	EFO	somatic cell	interstitial dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001007	"" []	5408166	\N	\N	EFO	7	EFO	experimental factor	interstitial dendritic cell
CL:0001008	\N	\N	"" []	CL:0001008	"" []	63248	\N	\N	EFO	0	EFO	Kit and Sca1-positive hematopoietic stem cell	Kit and Sca1-positive hematopoietic stem cell
CL:0000037	CL:0001008	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0001008	"" []	203107	\N	\N	EFO	1	EFO	hematopoietic stem cell	Kit and Sca1-positive hematopoietic stem cell
CL:0000037	CL:0001008	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0001008	"" []	203108	\N	\N	EFO	1	EFO	hematopoietic stem cell	Kit and Sca1-positive hematopoietic stem cell
CL:0000988	CL:0000037	\N	"A cell of a hematopoietic lineage." []	CL:0001008	"" []	556083	\N	\N	EFO	2	EFO	hematopoietic cell	Kit and Sca1-positive hematopoietic stem cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001008	"" []	1138762	\N	\N	EFO	3	EFO	cell type	Kit and Sca1-positive hematopoietic stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001008	"" []	2021833	\N	\N	EFO	4	EFO	material entity	Kit and Sca1-positive hematopoietic stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001008	"" []	3176424	\N	\N	EFO	5	EFO	experimental factor	Kit and Sca1-positive hematopoietic stem cell
CL:0001009	\N	\N	"" []	CL:0001009	"" []	63249	\N	\N	EFO	0	EFO	immature dermal dendritic cell	immature dermal dendritic cell
CL:0000840	CL:0001009	\N	"" []	CL:0001009	"" []	203109	\N	\N	EFO	1	EFO	immature conventional dendritic cell	immature dermal dendritic cell
CL:0001006	CL:0001009	\N	"" []	CL:0001009	"" []	203110	\N	\N	EFO	1	EFO	dermal dendritic cell	immature dermal dendritic cell
CL:0001006	CL:0001009	\N	"" []	CL:0001009	"" []	203111	\N	\N	EFO	1	EFO	dermal dendritic cell	immature dermal dendritic cell
CL:0000766	CL:0000840	\N	"" []	CL:0001009	"" []	556084	\N	\N	EFO	2	EFO	myeloid leukocyte	immature dermal dendritic cell
CL:0000990	CL:0000840	\N	"" []	CL:0001009	"" []	556085	\N	\N	EFO	2	EFO	conventional dendritic cell	immature dermal dendritic cell
CL:0000990	CL:0001006	\N	"" []	CL:0001009	"" []	556086	\N	\N	EFO	2	EFO	conventional dendritic cell	immature dermal dendritic cell
CL:0002465	CL:0001006	\N	"" []	CL:0001009	"" []	556087	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	immature dermal dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001009	"" []	1138763	\N	\N	EFO	3	EFO	leukocyte	immature dermal dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001009	"" []	1138764	\N	\N	EFO	3	EFO	myeloid cell	immature dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001009	"" []	2021838	\N	\N	EFO	4	EFO	dendritic cell	immature dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001009	"" []	1138766	\N	\N	EFO	3	EFO	dendritic cell	immature dermal dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0001009	"" []	1138767	\N	\N	EFO	3	EFO	conventional dendritic cell	immature dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001009	"" []	4132448	\N	\N	EFO	6	EFO	hematopoietic cell	immature dermal dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001009	"" []	2021835	\N	\N	EFO	4	EFO	hematopoietic cell	immature dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001009	"" []	2999188	\N	\N	EFO	5	EFO	leukocyte	immature dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001009	"" []	2021837	\N	\N	EFO	4	EFO	leukocyte	immature dermal dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001009	"" []	5059274	\N	\N	EFO	7	EFO	somatic cell	immature dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001009	"" []	3176427	\N	\N	EFO	5	EFO	hematopoietic cell	immature dermal dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001009	"" []	4387079	\N	\N	EFO	6	EFO	cell type	immature dermal dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001009	"" []	5408167	\N	\N	EFO	7	EFO	material entity	immature dermal dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001009	"" []	6147134	\N	\N	EFO	8	EFO	experimental factor	immature dermal dendritic cell
CL:0001010	\N	\N	"" []	CL:0001010	"" []	63250	\N	\N	EFO	0	EFO	mature dermal dendritic cell	mature dermal dendritic cell
CL:0000841	CL:0001010	\N	"" []	CL:0001010	"" []	203112	\N	\N	EFO	1	EFO	mature conventional dendritic cell	mature dermal dendritic cell
CL:0001006	CL:0001010	\N	"" []	CL:0001010	"" []	203113	\N	\N	EFO	1	EFO	dermal dendritic cell	mature dermal dendritic cell
CL:0001006	CL:0001010	\N	"" []	CL:0001010	"" []	203114	\N	\N	EFO	1	EFO	dermal dendritic cell	mature dermal dendritic cell
CL:0000766	CL:0000841	\N	"" []	CL:0001010	"" []	556088	\N	\N	EFO	2	EFO	myeloid leukocyte	mature dermal dendritic cell
CL:0000990	CL:0000841	\N	"" []	CL:0001010	"" []	556089	\N	\N	EFO	2	EFO	conventional dendritic cell	mature dermal dendritic cell
CL:0000990	CL:0001006	\N	"" []	CL:0001010	"" []	556090	\N	\N	EFO	2	EFO	conventional dendritic cell	mature dermal dendritic cell
CL:0002465	CL:0001006	\N	"" []	CL:0001010	"" []	556091	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	mature dermal dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001010	"" []	1138768	\N	\N	EFO	3	EFO	leukocyte	mature dermal dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001010	"" []	1138769	\N	\N	EFO	3	EFO	myeloid cell	mature dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001010	"" []	2021843	\N	\N	EFO	4	EFO	dendritic cell	mature dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001010	"" []	1138771	\N	\N	EFO	3	EFO	dendritic cell	mature dermal dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0001010	"" []	1138772	\N	\N	EFO	3	EFO	conventional dendritic cell	mature dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001010	"" []	4132450	\N	\N	EFO	6	EFO	hematopoietic cell	mature dermal dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001010	"" []	2021840	\N	\N	EFO	4	EFO	hematopoietic cell	mature dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001010	"" []	2999189	\N	\N	EFO	5	EFO	leukocyte	mature dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001010	"" []	2021842	\N	\N	EFO	4	EFO	leukocyte	mature dermal dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001010	"" []	5059275	\N	\N	EFO	7	EFO	somatic cell	mature dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001010	"" []	3176430	\N	\N	EFO	5	EFO	hematopoietic cell	mature dermal dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001010	"" []	4387080	\N	\N	EFO	6	EFO	cell type	mature dermal dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001010	"" []	5408168	\N	\N	EFO	7	EFO	material entity	mature dermal dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001010	"" []	6147135	\N	\N	EFO	8	EFO	experimental factor	mature dermal dendritic cell
CL:0001011	\N	\N	"" []	CL:0001011	"" []	63251	\N	\N	EFO	0	EFO	immature interstitial dendritic cell	immature interstitial dendritic cell
CL:0000840	CL:0001011	\N	"" []	CL:0001011	"" []	203115	\N	\N	EFO	1	EFO	immature conventional dendritic cell	immature interstitial dendritic cell
CL:0001007	CL:0001011	\N	"" []	CL:0001011	"" []	203116	\N	\N	EFO	1	EFO	interstitial dendritic cell	immature interstitial dendritic cell
CL:0001007	CL:0001011	\N	"" []	CL:0001011	"" []	203117	\N	\N	EFO	1	EFO	interstitial dendritic cell	immature interstitial dendritic cell
CL:0000766	CL:0000840	\N	"" []	CL:0001011	"" []	556092	\N	\N	EFO	2	EFO	myeloid leukocyte	immature interstitial dendritic cell
CL:0000990	CL:0000840	\N	"" []	CL:0001011	"" []	556093	\N	\N	EFO	2	EFO	conventional dendritic cell	immature interstitial dendritic cell
CL:0000990	CL:0001007	\N	"" []	CL:0001011	"" []	556094	\N	\N	EFO	2	EFO	conventional dendritic cell	immature interstitial dendritic cell
CL:0002465	CL:0001007	\N	"" []	CL:0001011	"" []	556095	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	immature interstitial dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001011	"" []	1138773	\N	\N	EFO	3	EFO	leukocyte	immature interstitial dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001011	"" []	1138774	\N	\N	EFO	3	EFO	myeloid cell	immature interstitial dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001011	"" []	2021848	\N	\N	EFO	4	EFO	dendritic cell	immature interstitial dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001011	"" []	1138776	\N	\N	EFO	3	EFO	dendritic cell	immature interstitial dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0001011	"" []	1138777	\N	\N	EFO	3	EFO	conventional dendritic cell	immature interstitial dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001011	"" []	4132452	\N	\N	EFO	6	EFO	hematopoietic cell	immature interstitial dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001011	"" []	2021845	\N	\N	EFO	4	EFO	hematopoietic cell	immature interstitial dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001011	"" []	2999190	\N	\N	EFO	5	EFO	leukocyte	immature interstitial dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001011	"" []	2021847	\N	\N	EFO	4	EFO	leukocyte	immature interstitial dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001011	"" []	5059276	\N	\N	EFO	7	EFO	somatic cell	immature interstitial dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001011	"" []	3176433	\N	\N	EFO	5	EFO	hematopoietic cell	immature interstitial dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001011	"" []	4387081	\N	\N	EFO	6	EFO	cell type	immature interstitial dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001011	"" []	5408169	\N	\N	EFO	7	EFO	material entity	immature interstitial dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001011	"" []	6147136	\N	\N	EFO	8	EFO	experimental factor	immature interstitial dendritic cell
CL:0001012	\N	\N	"" []	CL:0001012	"" []	63252	\N	\N	EFO	0	EFO	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor
CL:0001060	\N	\N	"A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers." [GOC:tfm, PMID:19022770]	CL:0001012	"" []	194219	\N	\N	EFO	0	EFO	hematopoietic oligopotent progenitor cell, lineage-negative	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor
CL:0002032	CL:0001012	\N	"" []	CL:0001012	"" []	203118	\N	\N	EFO	1	EFO	hematopoietic oligopotent progenitor cell	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0001012	"" []	556096	\N	\N	EFO	2	EFO	hematopoietic cell	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001012	"" []	1138778	\N	\N	EFO	3	EFO	cell type	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001012	"" []	2021849	\N	\N	EFO	4	EFO	material entity	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001012	"" []	3176434	\N	\N	EFO	5	EFO	experimental factor	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor
CL:0001013	\N	\N	"" []	CL:0001013	"" []	63253	\N	\N	EFO	0	EFO	mature interstitial dendritic cell	mature interstitial dendritic cell
CL:0000841	CL:0001013	\N	"" []	CL:0001013	"" []	203119	\N	\N	EFO	1	EFO	mature conventional dendritic cell	mature interstitial dendritic cell
CL:0001007	CL:0001013	\N	"" []	CL:0001013	"" []	203120	\N	\N	EFO	1	EFO	interstitial dendritic cell	mature interstitial dendritic cell
CL:0001007	CL:0001013	\N	"" []	CL:0001013	"" []	203121	\N	\N	EFO	1	EFO	interstitial dendritic cell	mature interstitial dendritic cell
CL:0000766	CL:0000841	\N	"" []	CL:0001013	"" []	556097	\N	\N	EFO	2	EFO	myeloid leukocyte	mature interstitial dendritic cell
CL:0000990	CL:0000841	\N	"" []	CL:0001013	"" []	556098	\N	\N	EFO	2	EFO	conventional dendritic cell	mature interstitial dendritic cell
CL:0000990	CL:0001007	\N	"" []	CL:0001013	"" []	556099	\N	\N	EFO	2	EFO	conventional dendritic cell	mature interstitial dendritic cell
CL:0002465	CL:0001007	\N	"" []	CL:0001013	"" []	556100	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	mature interstitial dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001013	"" []	1138779	\N	\N	EFO	3	EFO	leukocyte	mature interstitial dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001013	"" []	1138780	\N	\N	EFO	3	EFO	myeloid cell	mature interstitial dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001013	"" []	2021854	\N	\N	EFO	4	EFO	dendritic cell	mature interstitial dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001013	"" []	1138782	\N	\N	EFO	3	EFO	dendritic cell	mature interstitial dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0001013	"" []	1138783	\N	\N	EFO	3	EFO	conventional dendritic cell	mature interstitial dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001013	"" []	4132454	\N	\N	EFO	6	EFO	hematopoietic cell	mature interstitial dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001013	"" []	2021851	\N	\N	EFO	4	EFO	hematopoietic cell	mature interstitial dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001013	"" []	2999191	\N	\N	EFO	5	EFO	leukocyte	mature interstitial dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001013	"" []	2021853	\N	\N	EFO	4	EFO	leukocyte	mature interstitial dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001013	"" []	5059277	\N	\N	EFO	7	EFO	somatic cell	mature interstitial dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001013	"" []	3176437	\N	\N	EFO	5	EFO	hematopoietic cell	mature interstitial dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001013	"" []	4387082	\N	\N	EFO	6	EFO	cell type	mature interstitial dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001013	"" []	5408170	\N	\N	EFO	7	EFO	material entity	mature interstitial dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001013	"" []	6147137	\N	\N	EFO	8	EFO	experimental factor	mature interstitial dendritic cell
CL:0001014	\N	\N	"" []	CL:0001014	"" []	63254	\N	\N	EFO	0	EFO	CD1a-positive Langerhans cell	CD1a-positive Langerhans cell
CL:0000453	CL:0001014	\N	"" []	CL:0001014	"" []	203122	\N	\N	EFO	1	EFO	Langerhans cell	CD1a-positive Langerhans cell
CL:0000453	CL:0001014	\N	"" []	CL:0001014	"" []	203123	\N	\N	EFO	1	EFO	Langerhans cell	CD1a-positive Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0001014	"" []	556101	\N	\N	EFO	2	EFO	conventional dendritic cell	CD1a-positive Langerhans cell
CL:0000766	CL:0000453	\N	"" []	CL:0001014	"" []	556102	\N	\N	EFO	2	EFO	myeloid leukocyte	CD1a-positive Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0001014	"" []	556103	\N	\N	EFO	2	EFO	conventional dendritic cell	CD1a-positive Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001014	"" []	1138784	\N	\N	EFO	3	EFO	dendritic cell	CD1a-positive Langerhans cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001014	"" []	1138785	\N	\N	EFO	3	EFO	leukocyte	CD1a-positive Langerhans cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001014	"" []	1138786	\N	\N	EFO	3	EFO	myeloid cell	CD1a-positive Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001014	"" []	1138787	\N	\N	EFO	3	EFO	dendritic cell	CD1a-positive Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001014	"" []	2021855	\N	\N	EFO	4	EFO	leukocyte	CD1a-positive Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001014	"" []	3176440	\N	\N	EFO	5	EFO	hematopoietic cell	CD1a-positive Langerhans cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001014	"" []	2021857	\N	\N	EFO	4	EFO	hematopoietic cell	CD1a-positive Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001014	"" []	2021858	\N	\N	EFO	4	EFO	leukocyte	CD1a-positive Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001014	"" []	3176438	\N	\N	EFO	5	EFO	hematopoietic cell	CD1a-positive Langerhans cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001014	"" []	4132455	\N	\N	EFO	6	EFO	somatic cell	CD1a-positive Langerhans cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001014	"" []	4387083	\N	\N	EFO	6	EFO	cell type	CD1a-positive Langerhans cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001014	"" []	5408171	\N	\N	EFO	7	EFO	material entity	CD1a-positive Langerhans cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001014	"" []	6147138	\N	\N	EFO	8	EFO	experimental factor	CD1a-positive Langerhans cell
CL:0001015	\N	\N	"" []	CL:0001015	"" []	63255	\N	\N	EFO	0	EFO	CD8_alpha-low Langerhans cell	CD8_alpha-low Langerhans cell
CL:0000453	CL:0001015	\N	"" []	CL:0001015	"" []	203124	\N	\N	EFO	1	EFO	Langerhans cell	CD8_alpha-low Langerhans cell
CL:0000453	CL:0001015	\N	"" []	CL:0001015	"" []	203125	\N	\N	EFO	1	EFO	Langerhans cell	CD8_alpha-low Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0001015	"" []	556104	\N	\N	EFO	2	EFO	conventional dendritic cell	CD8_alpha-low Langerhans cell
CL:0000766	CL:0000453	\N	"" []	CL:0001015	"" []	556105	\N	\N	EFO	2	EFO	myeloid leukocyte	CD8_alpha-low Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0001015	"" []	556106	\N	\N	EFO	2	EFO	conventional dendritic cell	CD8_alpha-low Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001015	"" []	1138788	\N	\N	EFO	3	EFO	dendritic cell	CD8_alpha-low Langerhans cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001015	"" []	1138789	\N	\N	EFO	3	EFO	leukocyte	CD8_alpha-low Langerhans cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001015	"" []	1138790	\N	\N	EFO	3	EFO	myeloid cell	CD8_alpha-low Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001015	"" []	1138791	\N	\N	EFO	3	EFO	dendritic cell	CD8_alpha-low Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001015	"" []	2021859	\N	\N	EFO	4	EFO	leukocyte	CD8_alpha-low Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001015	"" []	3176443	\N	\N	EFO	5	EFO	hematopoietic cell	CD8_alpha-low Langerhans cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001015	"" []	2021861	\N	\N	EFO	4	EFO	hematopoietic cell	CD8_alpha-low Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001015	"" []	2021862	\N	\N	EFO	4	EFO	leukocyte	CD8_alpha-low Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001015	"" []	3176441	\N	\N	EFO	5	EFO	hematopoietic cell	CD8_alpha-low Langerhans cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001015	"" []	4132456	\N	\N	EFO	6	EFO	somatic cell	CD8_alpha-low Langerhans cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001015	"" []	4387084	\N	\N	EFO	6	EFO	cell type	CD8_alpha-low Langerhans cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001015	"" []	5408172	\N	\N	EFO	7	EFO	material entity	CD8_alpha-low Langerhans cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001015	"" []	6147139	\N	\N	EFO	8	EFO	experimental factor	CD8_alpha-low Langerhans cell
CL:0001016	\N	\N	"" []	CL:0001016	"" []	63256	\N	\N	EFO	0	EFO	immature CD1a-positive Langerhans cell	immature CD1a-positive Langerhans cell
CL:0000840	CL:0001016	\N	"" []	CL:0001016	"" []	203126	\N	\N	EFO	1	EFO	immature conventional dendritic cell	immature CD1a-positive Langerhans cell
CL:0001014	CL:0001016	\N	"" []	CL:0001016	"" []	203127	\N	\N	EFO	1	EFO	CD1a-positive Langerhans cell	immature CD1a-positive Langerhans cell
CL:0001014	CL:0001016	\N	"" []	CL:0001016	"" []	203128	\N	\N	EFO	1	EFO	CD1a-positive Langerhans cell	immature CD1a-positive Langerhans cell
CL:0000766	CL:0000840	\N	"" []	CL:0001016	"" []	556107	\N	\N	EFO	2	EFO	myeloid leukocyte	immature CD1a-positive Langerhans cell
CL:0000990	CL:0000840	\N	"" []	CL:0001016	"" []	556108	\N	\N	EFO	2	EFO	conventional dendritic cell	immature CD1a-positive Langerhans cell
CL:0000453	CL:0001014	\N	"" []	CL:0001016	"" []	556109	\N	\N	EFO	2	EFO	Langerhans cell	immature CD1a-positive Langerhans cell
CL:0000453	CL:0001014	\N	"" []	CL:0001016	"" []	556110	\N	\N	EFO	2	EFO	Langerhans cell	immature CD1a-positive Langerhans cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001016	"" []	2021867	\N	\N	EFO	4	EFO	leukocyte	immature CD1a-positive Langerhans cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001016	"" []	2021868	\N	\N	EFO	4	EFO	myeloid cell	immature CD1a-positive Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001016	"" []	2021869	\N	\N	EFO	4	EFO	dendritic cell	immature CD1a-positive Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0001016	"" []	1138795	\N	\N	EFO	3	EFO	conventional dendritic cell	immature CD1a-positive Langerhans cell
CL:0000766	CL:0000453	\N	"" []	CL:0001016	"" []	1138796	\N	\N	EFO	3	EFO	myeloid leukocyte	immature CD1a-positive Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0001016	"" []	1138797	\N	\N	EFO	3	EFO	conventional dendritic cell	immature CD1a-positive Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001016	"" []	4132458	\N	\N	EFO	6	EFO	hematopoietic cell	immature CD1a-positive Langerhans cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001016	"" []	2999193	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD1a-positive Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001016	"" []	2999194	\N	\N	EFO	5	EFO	leukocyte	immature CD1a-positive Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001016	"" []	2021866	\N	\N	EFO	4	EFO	dendritic cell	immature CD1a-positive Langerhans cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001016	"" []	5059278	\N	\N	EFO	7	EFO	somatic cell	immature CD1a-positive Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001016	"" []	3176445	\N	\N	EFO	5	EFO	leukocyte	immature CD1a-positive Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001016	"" []	4387085	\N	\N	EFO	6	EFO	hematopoietic cell	immature CD1a-positive Langerhans cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001016	"" []	5408173	\N	\N	EFO	7	EFO	cell type	immature CD1a-positive Langerhans cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001016	"" []	6147140	\N	\N	EFO	8	EFO	material entity	immature CD1a-positive Langerhans cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001016	"" []	6631676	\N	\N	EFO	9	EFO	experimental factor	immature CD1a-positive Langerhans cell
CL:0001017	\N	\N	"" []	CL:0001017	"" []	63257	\N	\N	EFO	0	EFO	mature CD1a-positive Langerhans cell	mature CD1a-positive Langerhans cell
CL:0000841	CL:0001017	\N	"" []	CL:0001017	"" []	203129	\N	\N	EFO	1	EFO	mature conventional dendritic cell	mature CD1a-positive Langerhans cell
CL:0001014	CL:0001017	\N	"" []	CL:0001017	"" []	203130	\N	\N	EFO	1	EFO	CD1a-positive Langerhans cell	mature CD1a-positive Langerhans cell
CL:0001014	CL:0001017	\N	"" []	CL:0001017	"" []	203131	\N	\N	EFO	1	EFO	CD1a-positive Langerhans cell	mature CD1a-positive Langerhans cell
CL:0000766	CL:0000841	\N	"" []	CL:0001017	"" []	556111	\N	\N	EFO	2	EFO	myeloid leukocyte	mature CD1a-positive Langerhans cell
CL:0000990	CL:0000841	\N	"" []	CL:0001017	"" []	556112	\N	\N	EFO	2	EFO	conventional dendritic cell	mature CD1a-positive Langerhans cell
CL:0000453	CL:0001014	\N	"" []	CL:0001017	"" []	556113	\N	\N	EFO	2	EFO	Langerhans cell	mature CD1a-positive Langerhans cell
CL:0000453	CL:0001014	\N	"" []	CL:0001017	"" []	556114	\N	\N	EFO	2	EFO	Langerhans cell	mature CD1a-positive Langerhans cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001017	"" []	2021874	\N	\N	EFO	4	EFO	leukocyte	mature CD1a-positive Langerhans cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001017	"" []	2021875	\N	\N	EFO	4	EFO	myeloid cell	mature CD1a-positive Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001017	"" []	2021876	\N	\N	EFO	4	EFO	dendritic cell	mature CD1a-positive Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0001017	"" []	1138801	\N	\N	EFO	3	EFO	conventional dendritic cell	mature CD1a-positive Langerhans cell
CL:0000766	CL:0000453	\N	"" []	CL:0001017	"" []	1138802	\N	\N	EFO	3	EFO	myeloid leukocyte	mature CD1a-positive Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0001017	"" []	1138803	\N	\N	EFO	3	EFO	conventional dendritic cell	mature CD1a-positive Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001017	"" []	4132460	\N	\N	EFO	6	EFO	hematopoietic cell	mature CD1a-positive Langerhans cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001017	"" []	2999196	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD1a-positive Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001017	"" []	2999197	\N	\N	EFO	5	EFO	leukocyte	mature CD1a-positive Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001017	"" []	2021873	\N	\N	EFO	4	EFO	dendritic cell	mature CD1a-positive Langerhans cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001017	"" []	5059279	\N	\N	EFO	7	EFO	somatic cell	mature CD1a-positive Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001017	"" []	3176447	\N	\N	EFO	5	EFO	leukocyte	mature CD1a-positive Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001017	"" []	4387086	\N	\N	EFO	6	EFO	hematopoietic cell	mature CD1a-positive Langerhans cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001017	"" []	5408174	\N	\N	EFO	7	EFO	cell type	mature CD1a-positive Langerhans cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001017	"" []	6147141	\N	\N	EFO	8	EFO	material entity	mature CD1a-positive Langerhans cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001017	"" []	6631677	\N	\N	EFO	9	EFO	experimental factor	mature CD1a-positive Langerhans cell
CL:0001018	\N	\N	"" []	CL:0001018	"" []	63258	\N	\N	EFO	0	EFO	immature CD8_alpha-low Langerhans cell	immature CD8_alpha-low Langerhans cell
CL:0000840	CL:0001018	\N	"" []	CL:0001018	"" []	203132	\N	\N	EFO	1	EFO	immature conventional dendritic cell	immature CD8_alpha-low Langerhans cell
CL:0001015	CL:0001018	\N	"" []	CL:0001018	"" []	203133	\N	\N	EFO	1	EFO	CD8_alpha-low Langerhans cell	immature CD8_alpha-low Langerhans cell
CL:0001015	CL:0001018	\N	"" []	CL:0001018	"" []	203134	\N	\N	EFO	1	EFO	CD8_alpha-low Langerhans cell	immature CD8_alpha-low Langerhans cell
CL:0000766	CL:0000840	\N	"" []	CL:0001018	"" []	556115	\N	\N	EFO	2	EFO	myeloid leukocyte	immature CD8_alpha-low Langerhans cell
CL:0000990	CL:0000840	\N	"" []	CL:0001018	"" []	556116	\N	\N	EFO	2	EFO	conventional dendritic cell	immature CD8_alpha-low Langerhans cell
CL:0000453	CL:0001015	\N	"" []	CL:0001018	"" []	556117	\N	\N	EFO	2	EFO	Langerhans cell	immature CD8_alpha-low Langerhans cell
CL:0000453	CL:0001015	\N	"" []	CL:0001018	"" []	556118	\N	\N	EFO	2	EFO	Langerhans cell	immature CD8_alpha-low Langerhans cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001018	"" []	2021881	\N	\N	EFO	4	EFO	leukocyte	immature CD8_alpha-low Langerhans cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001018	"" []	2021882	\N	\N	EFO	4	EFO	myeloid cell	immature CD8_alpha-low Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001018	"" []	2021883	\N	\N	EFO	4	EFO	dendritic cell	immature CD8_alpha-low Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0001018	"" []	1138807	\N	\N	EFO	3	EFO	conventional dendritic cell	immature CD8_alpha-low Langerhans cell
CL:0000766	CL:0000453	\N	"" []	CL:0001018	"" []	1138808	\N	\N	EFO	3	EFO	myeloid leukocyte	immature CD8_alpha-low Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0001018	"" []	1138809	\N	\N	EFO	3	EFO	conventional dendritic cell	immature CD8_alpha-low Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001018	"" []	4132462	\N	\N	EFO	6	EFO	hematopoietic cell	immature CD8_alpha-low Langerhans cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001018	"" []	2999199	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD8_alpha-low Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001018	"" []	2999200	\N	\N	EFO	5	EFO	leukocyte	immature CD8_alpha-low Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001018	"" []	2021880	\N	\N	EFO	4	EFO	dendritic cell	immature CD8_alpha-low Langerhans cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001018	"" []	5059280	\N	\N	EFO	7	EFO	somatic cell	immature CD8_alpha-low Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001018	"" []	3176449	\N	\N	EFO	5	EFO	leukocyte	immature CD8_alpha-low Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001018	"" []	4387087	\N	\N	EFO	6	EFO	hematopoietic cell	immature CD8_alpha-low Langerhans cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001018	"" []	5408175	\N	\N	EFO	7	EFO	cell type	immature CD8_alpha-low Langerhans cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001018	"" []	6147142	\N	\N	EFO	8	EFO	material entity	immature CD8_alpha-low Langerhans cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001018	"" []	6631678	\N	\N	EFO	9	EFO	experimental factor	immature CD8_alpha-low Langerhans cell
CL:0001019	\N	\N	"" []	CL:0001019	"" []	63259	\N	\N	EFO	0	EFO	CD115-positive monocyte OR common dendritic progenitor	CD115-positive monocyte OR common dendritic progenitor
CL:0002031	CL:0001019	\N	"" []	CL:0001019	"" []	203135	\N	\N	EFO	1	EFO	hematopoietic lineage restricted progenitor cell	CD115-positive monocyte OR common dendritic progenitor
CL:0002031	CL:0001019	\N	"" []	CL:0001019	"" []	203136	\N	\N	EFO	1	EFO	hematopoietic lineage restricted progenitor cell	CD115-positive monocyte OR common dendritic progenitor
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0001019	"" []	556119	\N	\N	EFO	2	EFO	hematopoietic cell	CD115-positive monocyte OR common dendritic progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001019	"" []	1138810	\N	\N	EFO	3	EFO	cell type	CD115-positive monocyte OR common dendritic progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001019	"" []	2021884	\N	\N	EFO	4	EFO	material entity	CD115-positive monocyte OR common dendritic progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001019	"" []	3176450	\N	\N	EFO	5	EFO	experimental factor	CD115-positive monocyte OR common dendritic progenitor
CL:0001020	\N	\N	"" []	CL:0001020	"" []	63260	\N	\N	EFO	0	EFO	mature CD8_alpha-low Langerhans cell	mature CD8_alpha-low Langerhans cell
CL:0000841	CL:0001020	\N	"" []	CL:0001020	"" []	203137	\N	\N	EFO	1	EFO	mature conventional dendritic cell	mature CD8_alpha-low Langerhans cell
CL:0001015	CL:0001020	\N	"" []	CL:0001020	"" []	203138	\N	\N	EFO	1	EFO	CD8_alpha-low Langerhans cell	mature CD8_alpha-low Langerhans cell
CL:0001015	CL:0001020	\N	"" []	CL:0001020	"" []	203139	\N	\N	EFO	1	EFO	CD8_alpha-low Langerhans cell	mature CD8_alpha-low Langerhans cell
CL:0000766	CL:0000841	\N	"" []	CL:0001020	"" []	556120	\N	\N	EFO	2	EFO	myeloid leukocyte	mature CD8_alpha-low Langerhans cell
CL:0000990	CL:0000841	\N	"" []	CL:0001020	"" []	556121	\N	\N	EFO	2	EFO	conventional dendritic cell	mature CD8_alpha-low Langerhans cell
CL:0000453	CL:0001015	\N	"" []	CL:0001020	"" []	556122	\N	\N	EFO	2	EFO	Langerhans cell	mature CD8_alpha-low Langerhans cell
CL:0000453	CL:0001015	\N	"" []	CL:0001020	"" []	556123	\N	\N	EFO	2	EFO	Langerhans cell	mature CD8_alpha-low Langerhans cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001020	"" []	2021889	\N	\N	EFO	4	EFO	leukocyte	mature CD8_alpha-low Langerhans cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001020	"" []	2021890	\N	\N	EFO	4	EFO	myeloid cell	mature CD8_alpha-low Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001020	"" []	2021891	\N	\N	EFO	4	EFO	dendritic cell	mature CD8_alpha-low Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0001020	"" []	1138814	\N	\N	EFO	3	EFO	conventional dendritic cell	mature CD8_alpha-low Langerhans cell
CL:0000766	CL:0000453	\N	"" []	CL:0001020	"" []	1138815	\N	\N	EFO	3	EFO	myeloid leukocyte	mature CD8_alpha-low Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0001020	"" []	1138816	\N	\N	EFO	3	EFO	conventional dendritic cell	mature CD8_alpha-low Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001020	"" []	4132464	\N	\N	EFO	6	EFO	hematopoietic cell	mature CD8_alpha-low Langerhans cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001020	"" []	2999202	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD8_alpha-low Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001020	"" []	2999203	\N	\N	EFO	5	EFO	leukocyte	mature CD8_alpha-low Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0001020	"" []	2021888	\N	\N	EFO	4	EFO	dendritic cell	mature CD8_alpha-low Langerhans cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001020	"" []	5059281	\N	\N	EFO	7	EFO	somatic cell	mature CD8_alpha-low Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001020	"" []	3176452	\N	\N	EFO	5	EFO	leukocyte	mature CD8_alpha-low Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001020	"" []	4387088	\N	\N	EFO	6	EFO	hematopoietic cell	mature CD8_alpha-low Langerhans cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001020	"" []	5408176	\N	\N	EFO	7	EFO	cell type	mature CD8_alpha-low Langerhans cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001020	"" []	6147143	\N	\N	EFO	8	EFO	material entity	mature CD8_alpha-low Langerhans cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001020	"" []	6631679	\N	\N	EFO	9	EFO	experimental factor	mature CD8_alpha-low Langerhans cell
CL:0001021	\N	\N	"" []	CL:0001021	"" []	63261	\N	\N	EFO	0	EFO	CD34-positive, CD38-positive common lymphoid progenitor	CD34-positive, CD38-positive common lymphoid progenitor
CL:0000051	CL:0001021	\N	"" []	CL:0001021	"" []	203140	\N	\N	EFO	1	EFO	common lymphoid progenitor	CD34-positive, CD38-positive common lymphoid progenitor
CL:0000051	CL:0001021	\N	"" []	CL:0001021	"" []	203141	\N	\N	EFO	1	EFO	common lymphoid progenitor	CD34-positive, CD38-positive common lymphoid progenitor
CL:0000995	CL:0001021	\N	"" []	CL:0001021	"" []	203142	\N	\N	EFO	1	EFO	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor	CD34-positive, CD38-positive common lymphoid progenitor
CL:0002032	CL:0000051	\N	"" []	CL:0001021	"" []	556124	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	CD34-positive, CD38-positive common lymphoid progenitor
CL:0002032	CL:0000051	\N	"" []	CL:0001021	"" []	556125	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	CD34-positive, CD38-positive common lymphoid progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0001021	"" []	1138817	\N	\N	EFO	3	EFO	hematopoietic cell	CD34-positive, CD38-positive common lymphoid progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001021	"" []	2021892	\N	\N	EFO	4	EFO	cell type	CD34-positive, CD38-positive common lymphoid progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001021	"" []	3176453	\N	\N	EFO	5	EFO	material entity	CD34-positive, CD38-positive common lymphoid progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001021	"" []	4387089	\N	\N	EFO	6	EFO	experimental factor	CD34-positive, CD38-positive common lymphoid progenitor
CL:0001022	\N	\N	"" []	CL:0001022	"" []	63262	\N	\N	EFO	0	EFO	CD115-positive monocyte	CD115-positive monocyte
CL:0000576	CL:0001022	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0001022	"" []	203143	\N	\N	EFO	1	EFO	monocyte	CD115-positive monocyte
CL:0000576	CL:0001022	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0001022	"" []	203144	\N	\N	EFO	1	EFO	monocyte	CD115-positive monocyte
CL:0000839	CL:0001022	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0001022	"" []	203145	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	CD115-positive monocyte
CL:0001019	CL:0001022	\N	"" []	CL:0001022	"" []	203146	\N	\N	EFO	1	EFO	CD115-positive monocyte OR common dendritic progenitor	CD115-positive monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0001022	"" []	556126	\N	\N	EFO	2	EFO	myeloid leukocyte	CD115-positive monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0001022	"" []	556127	\N	\N	EFO	2	EFO	myeloid leukocyte	CD115-positive monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0001022	"" []	556128	\N	\N	EFO	2	EFO	mononuclear cell	CD115-positive monocyte
CL:0002031	CL:0000839	\N	"" []	CL:0001022	"" []	556129	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	CD115-positive monocyte
CL:0002031	CL:0001019	\N	"" []	CL:0001022	"" []	556130	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	CD115-positive monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001022	"" []	1138818	\N	\N	EFO	3	EFO	leukocyte	CD115-positive monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001022	"" []	1138819	\N	\N	EFO	3	EFO	leukocyte	CD115-positive monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001022	"" []	1138820	\N	\N	EFO	3	EFO	myeloid cell	CD115-positive monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0001022	"" []	1138821	\N	\N	EFO	3	EFO	nongranular leukocyte	CD115-positive monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001022	"" []	2021893	\N	\N	EFO	4	EFO	hematopoietic cell	CD115-positive monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0001022	"" []	3176456	\N	\N	EFO	5	EFO	hematopoietic cell	CD115-positive monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001022	"" []	2021895	\N	\N	EFO	4	EFO	hematopoietic cell	CD115-positive monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0001022	"" []	2021896	\N	\N	EFO	4	EFO	leukocyte	CD115-positive monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001022	"" []	3176454	\N	\N	EFO	5	EFO	cell type	CD115-positive monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001022	"" []	4132465	\N	\N	EFO	6	EFO	somatic cell	CD115-positive monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001022	"" []	4387090	\N	\N	EFO	6	EFO	material entity	CD115-positive monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001022	"" []	5408177	\N	\N	EFO	7	EFO	experimental factor	CD115-positive monocyte
CL:0001023	\N	\N	"" []	CL:0001023	"" []	63263	\N	\N	EFO	0	EFO	Kit-positive, CD34-positive common myeloid progenitor	Kit-positive, CD34-positive common myeloid progenitor
CL:0001059	\N	\N	"A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1." [GOC:add, GOC:dsd, GOC:tfm, ISBN:0878932437, PMCID:PMC2212039, PMID:10724173, PMID:16551251, PMID:16647566]	CL:0001023	"" []	194220	\N	\N	EFO	0	EFO	common myeloid progenitor, CD34-positive	Kit-positive, CD34-positive common myeloid progenitor
CL:0000049	CL:0001023	\N	"" []	CL:0001023	"" []	203147	\N	\N	EFO	1	EFO	common myeloid progenitor	Kit-positive, CD34-positive common myeloid progenitor
CL:0001030	CL:0001023	\N	"" []	CL:0001023	"" []	203148	\N	\N	EFO	1	EFO	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor	Kit-positive, CD34-positive common myeloid progenitor
CL:0002032	CL:0000049	\N	"" []	CL:0001023	"" []	556131	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	Kit-positive, CD34-positive common myeloid progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0001023	"" []	1138822	\N	\N	EFO	3	EFO	hematopoietic cell	Kit-positive, CD34-positive common myeloid progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001023	"" []	2021897	\N	\N	EFO	4	EFO	cell type	Kit-positive, CD34-positive common myeloid progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001023	"" []	3176457	\N	\N	EFO	5	EFO	material entity	Kit-positive, CD34-positive common myeloid progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001023	"" []	4387091	\N	\N	EFO	6	EFO	experimental factor	Kit-positive, CD34-positive common myeloid progenitor
CL:0001024	\N	\N	"" []	CL:0001024	"" []	63264	\N	\N	EFO	0	EFO	CD34-positive, CD38-negative hematopoietic stem cell	CD34-positive, CD38-negative hematopoietic stem cell
CL:0000037	CL:0001024	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0001024	"" []	203149	\N	\N	EFO	1	EFO	hematopoietic stem cell	CD34-positive, CD38-negative hematopoietic stem cell
CL:0000037	CL:0001024	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0001024	"" []	203150	\N	\N	EFO	1	EFO	hematopoietic stem cell	CD34-positive, CD38-negative hematopoietic stem cell
CL:0000988	CL:0000037	\N	"A cell of a hematopoietic lineage." []	CL:0001024	"" []	556132	\N	\N	EFO	2	EFO	hematopoietic cell	CD34-positive, CD38-negative hematopoietic stem cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001024	"" []	1138823	\N	\N	EFO	3	EFO	cell type	CD34-positive, CD38-negative hematopoietic stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001024	"" []	2021898	\N	\N	EFO	4	EFO	material entity	CD34-positive, CD38-negative hematopoietic stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001024	"" []	3176458	\N	\N	EFO	5	EFO	experimental factor	CD34-positive, CD38-negative hematopoietic stem cell
CL:0001025	\N	\N	"" []	CL:0001025	"" []	63265	\N	\N	EFO	0	EFO	Kit-positive, Sca1-positive common lymphoid progenitor	Kit-positive, Sca1-positive common lymphoid progenitor
CL:0000051	CL:0001025	\N	"" []	CL:0001025	"" []	203151	\N	\N	EFO	1	EFO	common lymphoid progenitor	Kit-positive, Sca1-positive common lymphoid progenitor
CL:0000051	CL:0001025	\N	"" []	CL:0001025	"" []	203152	\N	\N	EFO	1	EFO	common lymphoid progenitor	Kit-positive, Sca1-positive common lymphoid progenitor
CL:0001030	CL:0001025	\N	"" []	CL:0001025	"" []	203153	\N	\N	EFO	1	EFO	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor	Kit-positive, Sca1-positive common lymphoid progenitor
CL:0002032	CL:0000051	\N	"" []	CL:0001025	"" []	556133	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	Kit-positive, Sca1-positive common lymphoid progenitor
CL:0002032	CL:0000051	\N	"" []	CL:0001025	"" []	556134	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	Kit-positive, Sca1-positive common lymphoid progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0001025	"" []	1138824	\N	\N	EFO	3	EFO	hematopoietic cell	Kit-positive, Sca1-positive common lymphoid progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001025	"" []	2021899	\N	\N	EFO	4	EFO	cell type	Kit-positive, Sca1-positive common lymphoid progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001025	"" []	3176459	\N	\N	EFO	5	EFO	material entity	Kit-positive, Sca1-positive common lymphoid progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001025	"" []	4387092	\N	\N	EFO	6	EFO	experimental factor	Kit-positive, Sca1-positive common lymphoid progenitor
CL:0001026	\N	\N	"" []	CL:0001026	"" []	63266	\N	\N	EFO	0	EFO	CD34-positive, CD38-positive common myeloid progenitor	CD34-positive, CD38-positive common myeloid progenitor
CL:0001059	\N	\N	"A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1." [GOC:add, GOC:dsd, GOC:tfm, ISBN:0878932437, PMCID:PMC2212039, PMID:10724173, PMID:16551251, PMID:16647566]	CL:0001026	"" []	194221	\N	\N	EFO	0	EFO	common myeloid progenitor, CD34-positive	CD34-positive, CD38-positive common myeloid progenitor
CL:0000049	CL:0001026	\N	"" []	CL:0001026	"" []	203154	\N	\N	EFO	1	EFO	common myeloid progenitor	CD34-positive, CD38-positive common myeloid progenitor
CL:0000995	CL:0001026	\N	"" []	CL:0001026	"" []	203155	\N	\N	EFO	1	EFO	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor	CD34-positive, CD38-positive common myeloid progenitor
CL:0002032	CL:0000049	\N	"" []	CL:0001026	"" []	556135	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	CD34-positive, CD38-positive common myeloid progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0001026	"" []	1138825	\N	\N	EFO	3	EFO	hematopoietic cell	CD34-positive, CD38-positive common myeloid progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001026	"" []	2021900	\N	\N	EFO	4	EFO	cell type	CD34-positive, CD38-positive common myeloid progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001026	"" []	3176460	\N	\N	EFO	5	EFO	material entity	CD34-positive, CD38-positive common myeloid progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001026	"" []	4387093	\N	\N	EFO	6	EFO	experimental factor	CD34-positive, CD38-positive common myeloid progenitor
CL:0001027	\N	\N	"" []	CL:0001027	"" []	63267	\N	\N	EFO	0	EFO	CD7-negative lymphoid progenitor cell	CD7-negative lymphoid progenitor cell
CL:0000051	CL:0001027	\N	"" []	CL:0001027	"" []	203156	\N	\N	EFO	1	EFO	common lymphoid progenitor	CD7-negative lymphoid progenitor cell
CL:0000051	CL:0001027	\N	"" []	CL:0001027	"" []	203157	\N	\N	EFO	1	EFO	common lymphoid progenitor	CD7-negative lymphoid progenitor cell
CL:0001012	CL:0001027	\N	"" []	CL:0001027	"" []	203158	\N	\N	EFO	1	EFO	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor	CD7-negative lymphoid progenitor cell
CL:0002032	CL:0000051	\N	"" []	CL:0001027	"" []	556136	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	CD7-negative lymphoid progenitor cell
CL:0002032	CL:0000051	\N	"" []	CL:0001027	"" []	556137	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	CD7-negative lymphoid progenitor cell
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0001027	"" []	1138826	\N	\N	EFO	3	EFO	hematopoietic cell	CD7-negative lymphoid progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001027	"" []	2021901	\N	\N	EFO	4	EFO	cell type	CD7-negative lymphoid progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001027	"" []	3176461	\N	\N	EFO	5	EFO	material entity	CD7-negative lymphoid progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001027	"" []	4387094	\N	\N	EFO	6	EFO	experimental factor	CD7-negative lymphoid progenitor cell
CL:0001028	\N	\N	"" []	CL:0001028	"" []	63268	\N	\N	EFO	0	EFO	CD7-positive lymphoid progenitor cell	CD7-positive lymphoid progenitor cell
CL:0000051	CL:0001028	\N	"" []	CL:0001028	"" []	203159	\N	\N	EFO	1	EFO	common lymphoid progenitor	CD7-positive lymphoid progenitor cell
CL:0000051	CL:0001028	\N	"" []	CL:0001028	"" []	203160	\N	\N	EFO	1	EFO	common lymphoid progenitor	CD7-positive lymphoid progenitor cell
CL:0002032	CL:0000051	\N	"" []	CL:0001028	"" []	556138	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	CD7-positive lymphoid progenitor cell
CL:0002032	CL:0000051	\N	"" []	CL:0001028	"" []	556139	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	CD7-positive lymphoid progenitor cell
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0001028	"" []	1138827	\N	\N	EFO	3	EFO	hematopoietic cell	CD7-positive lymphoid progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001028	"" []	2021902	\N	\N	EFO	4	EFO	cell type	CD7-positive lymphoid progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001028	"" []	3176462	\N	\N	EFO	5	EFO	material entity	CD7-positive lymphoid progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001028	"" []	4387095	\N	\N	EFO	6	EFO	experimental factor	CD7-positive lymphoid progenitor cell
CL:0001029	\N	\N	"" []	CL:0001029	"" []	63269	\N	\N	EFO	0	EFO	common dendritic progenitor	common dendritic progenitor
CL:0000763	CL:0001029	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0001029	"" []	203161	\N	\N	EFO	1	EFO	myeloid cell	common dendritic progenitor
CL:0001019	CL:0001029	\N	"" []	CL:0001029	"" []	203162	\N	\N	EFO	1	EFO	CD115-positive monocyte OR common dendritic progenitor	common dendritic progenitor
CL:0002031	CL:0001029	\N	"" []	CL:0001029	"" []	203163	\N	\N	EFO	1	EFO	hematopoietic lineage restricted progenitor cell	common dendritic progenitor
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0001029	"" []	556140	\N	\N	EFO	2	EFO	hematopoietic cell	common dendritic progenitor
CL:0002031	CL:0001019	\N	"" []	CL:0001029	"" []	556141	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	common dendritic progenitor
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0001029	"" []	556142	\N	\N	EFO	2	EFO	hematopoietic cell	common dendritic progenitor
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0001029	"" []	1138828	\N	\N	EFO	3	EFO	somatic cell	common dendritic progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001029	"" []	1138829	\N	\N	EFO	3	EFO	cell type	common dendritic progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001029	"" []	2021903	\N	\N	EFO	4	EFO	material entity	common dendritic progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001029	"" []	3176463	\N	\N	EFO	5	EFO	experimental factor	common dendritic progenitor
CL:0001030	\N	\N	"" []	CL:0001030	"" []	63270	\N	\N	EFO	0	EFO	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor
CL:0001060	\N	\N	"A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers." [GOC:tfm, PMID:19022770]	CL:0001030	"" []	194222	\N	\N	EFO	0	EFO	hematopoietic oligopotent progenitor cell, lineage-negative	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor
CL:0002032	CL:0001030	\N	"" []	CL:0001030	"" []	203164	\N	\N	EFO	1	EFO	hematopoietic oligopotent progenitor cell	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0001030	"" []	556143	\N	\N	EFO	2	EFO	hematopoietic cell	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0001030	"" []	1138830	\N	\N	EFO	3	EFO	cell type	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0001030	"" []	2021904	\N	\N	EFO	4	EFO	material entity	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0001030	"" []	3176464	\N	\N	EFO	5	EFO	experimental factor	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor
CL:0002000	\N	\N	"" []	CL:0002000	"" []	63271	\N	\N	EFO	0	EFO	Kit-positive erythroid progenitor cell	Kit-positive erythroid progenitor cell
CL:0001066	\N	\N	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." [GOC:add, ISBN:0721601464]	CL:0002000	"" []	194223	\N	\N	EFO	0	EFO	erythroid progenitor cell, mammalian	Kit-positive erythroid progenitor cell
CL:0000038	CL:0002000	\N	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	CL:0002000	"" []	203165	\N	\N	EFO	1	EFO	erythroid progenitor cell	Kit-positive erythroid progenitor cell
CL:0000764	CL:0000038	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002000	"" []	556144	\N	\N	EFO	2	EFO	erythroid lineage cell	Kit-positive erythroid progenitor cell
CL:0000839	CL:0000038	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002000	"" []	556145	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	Kit-positive erythroid progenitor cell
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002000	"" []	1138831	\N	\N	EFO	3	EFO	myeloid cell	Kit-positive erythroid progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002000	"" []	1138832	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Kit-positive erythroid progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002000	"" []	2021905	\N	\N	EFO	4	EFO	hematopoietic cell	Kit-positive erythroid progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002000	"" []	2021906	\N	\N	EFO	4	EFO	hematopoietic cell	Kit-positive erythroid progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002000	"" []	3176465	\N	\N	EFO	5	EFO	cell type	Kit-positive erythroid progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002000	"" []	4387096	\N	\N	EFO	6	EFO	material entity	Kit-positive erythroid progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002000	"" []	5408178	\N	\N	EFO	7	EFO	experimental factor	Kit-positive erythroid progenitor cell
CL:0002001	\N	\N	"" []	CL:0002001	"" []	63272	\N	\N	EFO	0	EFO	CD34-positive, CD38-positive granulocyte monocyte progenitor	CD34-positive, CD38-positive granulocyte monocyte progenitor
CL:0000557	CL:0002001	\N	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	CL:0002001	"" []	203166	\N	\N	EFO	1	EFO	granulocyte monocyte progenitor cell	CD34-positive, CD38-positive granulocyte monocyte progenitor
CL:0000557	CL:0002001	\N	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	CL:0002001	"" []	203167	\N	\N	EFO	1	EFO	granulocyte monocyte progenitor cell	CD34-positive, CD38-positive granulocyte monocyte progenitor
CL:0002032	CL:0000557	\N	"" []	CL:0002001	"" []	556146	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	CD34-positive, CD38-positive granulocyte monocyte progenitor
CL:0000763	CL:0000557	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002001	"" []	556147	\N	\N	EFO	2	EFO	myeloid cell	CD34-positive, CD38-positive granulocyte monocyte progenitor
CL:0001012	CL:0000557	\N	"" []	CL:0002001	"" []	556148	\N	\N	EFO	2	EFO	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor	CD34-positive, CD38-positive granulocyte monocyte progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0002001	"" []	1138833	\N	\N	EFO	3	EFO	hematopoietic cell	CD34-positive, CD38-positive granulocyte monocyte progenitor
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002001	"" []	1138834	\N	\N	EFO	3	EFO	hematopoietic cell	CD34-positive, CD38-positive granulocyte monocyte progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002001	"" []	2021907	\N	\N	EFO	4	EFO	cell type	CD34-positive, CD38-positive granulocyte monocyte progenitor
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002001	"" []	2021908	\N	\N	EFO	4	EFO	somatic cell	CD34-positive, CD38-positive granulocyte monocyte progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002001	"" []	3176466	\N	\N	EFO	5	EFO	material entity	CD34-positive, CD38-positive granulocyte monocyte progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002001	"" []	4387097	\N	\N	EFO	6	EFO	experimental factor	CD34-positive, CD38-positive granulocyte monocyte progenitor
CL:0002002	\N	\N	"" []	CL:0002002	"" []	63273	\N	\N	EFO	0	EFO	Kit-positive granulocyte monocyte progenitor	Kit-positive granulocyte monocyte progenitor
CL:0000557	CL:0002002	\N	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	CL:0002002	"" []	203168	\N	\N	EFO	1	EFO	granulocyte monocyte progenitor cell	Kit-positive granulocyte monocyte progenitor
CL:0000557	CL:0002002	\N	"A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages." []	CL:0002002	"" []	203169	\N	\N	EFO	1	EFO	granulocyte monocyte progenitor cell	Kit-positive granulocyte monocyte progenitor
CL:0002032	CL:0000557	\N	"" []	CL:0002002	"" []	556149	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	Kit-positive granulocyte monocyte progenitor
CL:0000763	CL:0000557	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002002	"" []	556150	\N	\N	EFO	2	EFO	myeloid cell	Kit-positive granulocyte monocyte progenitor
CL:0001012	CL:0000557	\N	"" []	CL:0002002	"" []	556151	\N	\N	EFO	2	EFO	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor	Kit-positive granulocyte monocyte progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0002002	"" []	1138835	\N	\N	EFO	3	EFO	hematopoietic cell	Kit-positive granulocyte monocyte progenitor
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002002	"" []	1138836	\N	\N	EFO	3	EFO	hematopoietic cell	Kit-positive granulocyte monocyte progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002002	"" []	2021909	\N	\N	EFO	4	EFO	cell type	Kit-positive granulocyte monocyte progenitor
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002002	"" []	2021910	\N	\N	EFO	4	EFO	somatic cell	Kit-positive granulocyte monocyte progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002002	"" []	3176467	\N	\N	EFO	5	EFO	material entity	Kit-positive granulocyte monocyte progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002002	"" []	4387098	\N	\N	EFO	6	EFO	experimental factor	Kit-positive granulocyte monocyte progenitor
CL:0002003	\N	\N	"" []	CL:0002003	"" []	63274	\N	\N	EFO	0	EFO	CD34-positive, GlyA-negative erythroid progenitor cell	CD34-positive, GlyA-negative erythroid progenitor cell
CL:0001066	\N	\N	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." [GOC:add, ISBN:0721601464]	CL:0002003	"" []	194224	\N	\N	EFO	0	EFO	erythroid progenitor cell, mammalian	CD34-positive, GlyA-negative erythroid progenitor cell
CL:0000038	CL:0002003	\N	"A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative)." []	CL:0002003	"" []	203170	\N	\N	EFO	1	EFO	erythroid progenitor cell	CD34-positive, GlyA-negative erythroid progenitor cell
CL:0000764	CL:0000038	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002003	"" []	556152	\N	\N	EFO	2	EFO	erythroid lineage cell	CD34-positive, GlyA-negative erythroid progenitor cell
CL:0000839	CL:0000038	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002003	"" []	556153	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	CD34-positive, GlyA-negative erythroid progenitor cell
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002003	"" []	1138837	\N	\N	EFO	3	EFO	myeloid cell	CD34-positive, GlyA-negative erythroid progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002003	"" []	1138838	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	CD34-positive, GlyA-negative erythroid progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002003	"" []	2021911	\N	\N	EFO	4	EFO	hematopoietic cell	CD34-positive, GlyA-negative erythroid progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002003	"" []	2021912	\N	\N	EFO	4	EFO	hematopoietic cell	CD34-positive, GlyA-negative erythroid progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002003	"" []	3176468	\N	\N	EFO	5	EFO	cell type	CD34-positive, GlyA-negative erythroid progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002003	"" []	4387099	\N	\N	EFO	6	EFO	material entity	CD34-positive, GlyA-negative erythroid progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002003	"" []	5408179	\N	\N	EFO	7	EFO	experimental factor	CD34-positive, GlyA-negative erythroid progenitor cell
CL:0002004	\N	\N	"" []	CL:0002004	"" []	63275	\N	\N	EFO	0	EFO	CD34-negative, GlyA-negative proerythroblast	CD34-negative, GlyA-negative proerythroblast
CL:0000547	CL:0002004	\N	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	CL:0002004	"" []	203171	\N	\N	EFO	1	EFO	proerythroblast	CD34-negative, GlyA-negative proerythroblast
CL:0000547	CL:0002004	\N	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	CL:0002004	"" []	203172	\N	\N	EFO	1	EFO	proerythroblast	CD34-negative, GlyA-negative proerythroblast
CL:0000764	CL:0000547	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002004	"" []	556154	\N	\N	EFO	2	EFO	erythroid lineage cell	CD34-negative, GlyA-negative proerythroblast
CL:0000764	CL:0000547	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002004	"" []	556155	\N	\N	EFO	2	EFO	erythroid lineage cell	CD34-negative, GlyA-negative proerythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002004	"" []	1138839	\N	\N	EFO	3	EFO	myeloid cell	CD34-negative, GlyA-negative proerythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002004	"" []	1138840	\N	\N	EFO	3	EFO	myeloid cell	CD34-negative, GlyA-negative proerythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002004	"" []	2021913	\N	\N	EFO	4	EFO	hematopoietic cell	CD34-negative, GlyA-negative proerythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002004	"" []	2021914	\N	\N	EFO	4	EFO	hematopoietic cell	CD34-negative, GlyA-negative proerythroblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002004	"" []	3176469	\N	\N	EFO	5	EFO	cell type	CD34-negative, GlyA-negative proerythroblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002004	"" []	3176470	\N	\N	EFO	5	EFO	somatic cell	CD34-negative, GlyA-negative proerythroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002004	"" []	4387100	\N	\N	EFO	6	EFO	material entity	CD34-negative, GlyA-negative proerythroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002004	"" []	5408180	\N	\N	EFO	7	EFO	experimental factor	CD34-negative, GlyA-negative proerythroblast
CL:0002005	\N	\N	"" []	CL:0002005	"" []	63276	\N	\N	EFO	0	EFO	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
CL:0000050	CL:0002005	\N	"" []	CL:0002005	"" []	203173	\N	\N	EFO	1	EFO	megakaryocyte-erythroid progenitor cell	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
CL:0000050	CL:0002005	\N	"" []	CL:0002005	"" []	203174	\N	\N	EFO	1	EFO	megakaryocyte-erythroid progenitor cell	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
CL:0002032	CL:0000050	\N	"" []	CL:0002005	"" []	556156	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
CL:0000763	CL:0000050	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002005	"" []	556157	\N	\N	EFO	2	EFO	myeloid cell	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
CL:0002032	CL:0000050	\N	"" []	CL:0002005	"" []	556158	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0002005	"" []	1138841	\N	\N	EFO	3	EFO	hematopoietic cell	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002005	"" []	1138842	\N	\N	EFO	3	EFO	hematopoietic cell	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002005	"" []	2021915	\N	\N	EFO	4	EFO	cell type	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002005	"" []	2021916	\N	\N	EFO	4	EFO	somatic cell	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002005	"" []	3176471	\N	\N	EFO	5	EFO	material entity	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002005	"" []	4387101	\N	\N	EFO	6	EFO	experimental factor	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
CL:0002006	\N	\N	"" []	CL:0002006	"" []	63277	\N	\N	EFO	0	EFO	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
CL:0000050	CL:0002006	\N	"" []	CL:0002006	"" []	203175	\N	\N	EFO	1	EFO	megakaryocyte-erythroid progenitor cell	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
CL:0000050	CL:0002006	\N	"" []	CL:0002006	"" []	203176	\N	\N	EFO	1	EFO	megakaryocyte-erythroid progenitor cell	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
CL:0002032	CL:0000050	\N	"" []	CL:0002006	"" []	556159	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
CL:0000763	CL:0000050	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002006	"" []	556160	\N	\N	EFO	2	EFO	myeloid cell	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
CL:0002032	CL:0000050	\N	"" []	CL:0002006	"" []	556161	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0002006	"" []	1138843	\N	\N	EFO	3	EFO	hematopoietic cell	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002006	"" []	1138844	\N	\N	EFO	3	EFO	hematopoietic cell	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002006	"" []	2021917	\N	\N	EFO	4	EFO	cell type	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002006	"" []	2021918	\N	\N	EFO	4	EFO	somatic cell	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002006	"" []	3176472	\N	\N	EFO	5	EFO	material entity	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002006	"" []	4387102	\N	\N	EFO	6	EFO	experimental factor	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
CL:0002007	\N	\N	"" []	CL:0002007	"" []	63278	\N	\N	EFO	0	EFO	Kit-low, CD34-positive eosinophil progenitor cell	Kit-low, CD34-positive eosinophil progenitor cell
CL:0000611	CL:0002007	\N	"" []	CL:0002007	"" []	203177	\N	\N	EFO	1	EFO	eosinophil progenitor cell	Kit-low, CD34-positive eosinophil progenitor cell
CL:0000611	CL:0002007	\N	"" []	CL:0002007	"" []	203178	\N	\N	EFO	1	EFO	eosinophil progenitor cell	Kit-low, CD34-positive eosinophil progenitor cell
CL:0002191	CL:0000611	\N	"" []	CL:0002007	"" []	556162	\N	\N	EFO	2	EFO	granulocytopoietic cell	Kit-low, CD34-positive eosinophil progenitor cell
CL:0000763	CL:0000611	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002007	"" []	556163	\N	\N	EFO	2	EFO	myeloid cell	Kit-low, CD34-positive eosinophil progenitor cell
CL:0002191	CL:0000611	\N	"" []	CL:0002007	"" []	556164	\N	\N	EFO	2	EFO	granulocytopoietic cell	Kit-low, CD34-positive eosinophil progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002007	"" []	1138845	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	Kit-low, CD34-positive eosinophil progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002007	"" []	1138846	\N	\N	EFO	3	EFO	hematopoietic cell	Kit-low, CD34-positive eosinophil progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002007	"" []	1138847	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	Kit-low, CD34-positive eosinophil progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002007	"" []	2021919	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	Kit-low, CD34-positive eosinophil progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002007	"" []	2021920	\N	\N	EFO	4	EFO	somatic cell	Kit-low, CD34-positive eosinophil progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002007	"" []	2021921	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	Kit-low, CD34-positive eosinophil progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002007	"" []	3176473	\N	\N	EFO	5	EFO	hematopoietic cell	Kit-low, CD34-positive eosinophil progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002007	"" []	4387103	\N	\N	EFO	6	EFO	cell type	Kit-low, CD34-positive eosinophil progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002007	"" []	5408181	\N	\N	EFO	7	EFO	material entity	Kit-low, CD34-positive eosinophil progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002007	"" []	6147144	\N	\N	EFO	8	EFO	experimental factor	Kit-low, CD34-positive eosinophil progenitor cell
CL:0002008	\N	\N	"" []	CL:0002008	"" []	63279	\N	\N	EFO	0	EFO	CD34-positive, CD38-positive eosinophil progenitor cell	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0000611	CL:0002008	\N	"" []	CL:0002008	"" []	203179	\N	\N	EFO	1	EFO	eosinophil progenitor cell	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0000611	CL:0002008	\N	"" []	CL:0002008	"" []	203180	\N	\N	EFO	1	EFO	eosinophil progenitor cell	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0002191	CL:0000611	\N	"" []	CL:0002008	"" []	556165	\N	\N	EFO	2	EFO	granulocytopoietic cell	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0000763	CL:0000611	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002008	"" []	556166	\N	\N	EFO	2	EFO	myeloid cell	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0002191	CL:0000611	\N	"" []	CL:0002008	"" []	556167	\N	\N	EFO	2	EFO	granulocytopoietic cell	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002008	"" []	1138848	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002008	"" []	1138849	\N	\N	EFO	3	EFO	hematopoietic cell	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002008	"" []	1138850	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002008	"" []	2021922	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002008	"" []	2021923	\N	\N	EFO	4	EFO	somatic cell	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002008	"" []	2021924	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002008	"" []	3176474	\N	\N	EFO	5	EFO	hematopoietic cell	CD34-positive, CD38-positive eosinophil progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002008	"" []	4387104	\N	\N	EFO	6	EFO	cell type	CD34-positive, CD38-positive eosinophil progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002008	"" []	5408182	\N	\N	EFO	7	EFO	material entity	CD34-positive, CD38-positive eosinophil progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002008	"" []	6147145	\N	\N	EFO	8	EFO	experimental factor	CD34-positive, CD38-positive eosinophil progenitor cell
CL:0002009	\N	\N	"" []	CL:0002009	"" []	63280	\N	\N	EFO	0	EFO	macrophage dendritic cell progenitor	macrophage dendritic cell progenitor
CL:0011115	\N	\N	"A cell that, by division or terminal differentiation, can give rise to other cell types." [GOC:dos]	CL:0002009	"" []	194225	\N	\N	EFO	0	EFO	precursor cell	macrophage dendritic cell progenitor
CL:0000763	CL:0002009	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002009	"" []	203181	\N	\N	EFO	1	EFO	myeloid cell	macrophage dendritic cell progenitor
CL:0002032	CL:0002009	\N	"" []	CL:0002009	"" []	203182	\N	\N	EFO	1	EFO	hematopoietic oligopotent progenitor cell	macrophage dendritic cell progenitor
CL:0002032	CL:0002009	\N	"" []	CL:0002009	"" []	203183	\N	\N	EFO	1	EFO	hematopoietic oligopotent progenitor cell	macrophage dendritic cell progenitor
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002009	"" []	556168	\N	\N	EFO	2	EFO	hematopoietic cell	macrophage dendritic cell progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0002009	"" []	556169	\N	\N	EFO	2	EFO	hematopoietic cell	macrophage dendritic cell progenitor
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002009	"" []	1138851	\N	\N	EFO	3	EFO	somatic cell	macrophage dendritic cell progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002009	"" []	1138852	\N	\N	EFO	3	EFO	cell type	macrophage dendritic cell progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002009	"" []	2021925	\N	\N	EFO	4	EFO	material entity	macrophage dendritic cell progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002009	"" []	3176475	\N	\N	EFO	5	EFO	experimental factor	macrophage dendritic cell progenitor
CL:0002010	\N	\N	"" []	CL:0002010	"" []	63281	\N	\N	EFO	0	EFO	pre-conventional dendritic cell	pre-conventional dendritic cell
CL:0000763	CL:0002010	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002010	"" []	203184	\N	\N	EFO	1	EFO	myeloid cell	pre-conventional dendritic cell
CL:0002031	CL:0002010	\N	"" []	CL:0002010	"" []	203185	\N	\N	EFO	1	EFO	hematopoietic lineage restricted progenitor cell	pre-conventional dendritic cell
CL:0002031	CL:0002010	\N	"" []	CL:0002010	"" []	203186	\N	\N	EFO	1	EFO	hematopoietic lineage restricted progenitor cell	pre-conventional dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002010	"" []	556170	\N	\N	EFO	2	EFO	hematopoietic cell	pre-conventional dendritic cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002010	"" []	556171	\N	\N	EFO	2	EFO	hematopoietic cell	pre-conventional dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002010	"" []	1138853	\N	\N	EFO	3	EFO	somatic cell	pre-conventional dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002010	"" []	1138854	\N	\N	EFO	3	EFO	cell type	pre-conventional dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002010	"" []	2021926	\N	\N	EFO	4	EFO	material entity	pre-conventional dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002010	"" []	3176476	\N	\N	EFO	5	EFO	experimental factor	pre-conventional dendritic cell
CL:0002011	\N	\N	"" []	CL:0002011	"" []	63282	\N	\N	EFO	0	EFO	Kit-positive macrophage dendritic cell progenitor	Kit-positive macrophage dendritic cell progenitor
CL:0002009	CL:0002011	\N	"" []	CL:0002011	"" []	203187	\N	\N	EFO	1	EFO	macrophage dendritic cell progenitor	Kit-positive macrophage dendritic cell progenitor
CL:0002009	CL:0002011	\N	"" []	CL:0002011	"" []	203188	\N	\N	EFO	1	EFO	macrophage dendritic cell progenitor	Kit-positive macrophage dendritic cell progenitor
CL:0002032	CL:0002009	\N	"" []	CL:0002011	"" []	556172	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	Kit-positive macrophage dendritic cell progenitor
CL:0000763	CL:0002009	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002011	"" []	556173	\N	\N	EFO	2	EFO	myeloid cell	Kit-positive macrophage dendritic cell progenitor
CL:0002032	CL:0002009	\N	"" []	CL:0002011	"" []	556174	\N	\N	EFO	2	EFO	hematopoietic oligopotent progenitor cell	Kit-positive macrophage dendritic cell progenitor
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0002011	"" []	1138855	\N	\N	EFO	3	EFO	hematopoietic cell	Kit-positive macrophage dendritic cell progenitor
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002011	"" []	1138856	\N	\N	EFO	3	EFO	hematopoietic cell	Kit-positive macrophage dendritic cell progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002011	"" []	2021927	\N	\N	EFO	4	EFO	cell type	Kit-positive macrophage dendritic cell progenitor
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002011	"" []	2021928	\N	\N	EFO	4	EFO	somatic cell	Kit-positive macrophage dendritic cell progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002011	"" []	3176477	\N	\N	EFO	5	EFO	material entity	Kit-positive macrophage dendritic cell progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002011	"" []	4387105	\N	\N	EFO	6	EFO	experimental factor	Kit-positive macrophage dendritic cell progenitor
CL:0002012	\N	\N	"" []	CL:0002012	"" []	63283	\N	\N	EFO	0	EFO	Kit-low proerythroblast	Kit-low proerythroblast
CL:0000547	CL:0002012	\N	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	CL:0002012	"" []	203189	\N	\N	EFO	1	EFO	proerythroblast	Kit-low proerythroblast
CL:0000547	CL:0002012	\N	"An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []	CL:0002012	"" []	203190	\N	\N	EFO	1	EFO	proerythroblast	Kit-low proerythroblast
CL:0000764	CL:0000547	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002012	"" []	556175	\N	\N	EFO	2	EFO	erythroid lineage cell	Kit-low proerythroblast
CL:0000764	CL:0000547	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002012	"" []	556176	\N	\N	EFO	2	EFO	erythroid lineage cell	Kit-low proerythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002012	"" []	1138857	\N	\N	EFO	3	EFO	myeloid cell	Kit-low proerythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002012	"" []	1138858	\N	\N	EFO	3	EFO	myeloid cell	Kit-low proerythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002012	"" []	2021929	\N	\N	EFO	4	EFO	hematopoietic cell	Kit-low proerythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002012	"" []	2021930	\N	\N	EFO	4	EFO	hematopoietic cell	Kit-low proerythroblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002012	"" []	3176478	\N	\N	EFO	5	EFO	cell type	Kit-low proerythroblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002012	"" []	3176479	\N	\N	EFO	5	EFO	somatic cell	Kit-low proerythroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002012	"" []	4387106	\N	\N	EFO	6	EFO	material entity	Kit-low proerythroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002012	"" []	5408183	\N	\N	EFO	7	EFO	experimental factor	Kit-low proerythroblast
CL:0002013	\N	\N	"" []	CL:0002013	"" []	63284	\N	\N	EFO	0	EFO	GlyA-positive basophillic erythroblast	GlyA-positive basophillic erythroblast
CL:0000549	CL:0002013	\N	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	CL:0002013	"" []	203191	\N	\N	EFO	1	EFO	basophilic erythroblast	GlyA-positive basophillic erythroblast
CL:0000549	CL:0002013	\N	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	CL:0002013	"" []	203192	\N	\N	EFO	1	EFO	basophilic erythroblast	GlyA-positive basophillic erythroblast
CL:0000765	CL:0000549	\N	"A nucleated precursor of an erythrocyte." []	CL:0002013	"" []	556177	\N	\N	EFO	2	EFO	erythroblast	GlyA-positive basophillic erythroblast
CL:0000765	CL:0000549	\N	"A nucleated precursor of an erythrocyte." []	CL:0002013	"" []	556178	\N	\N	EFO	2	EFO	erythroblast	GlyA-positive basophillic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002013	"" []	1138859	\N	\N	EFO	3	EFO	erythroid lineage cell	GlyA-positive basophillic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002013	"" []	1138860	\N	\N	EFO	3	EFO	erythroid lineage cell	GlyA-positive basophillic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002013	"" []	2021931	\N	\N	EFO	4	EFO	myeloid cell	GlyA-positive basophillic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002013	"" []	2021932	\N	\N	EFO	4	EFO	myeloid cell	GlyA-positive basophillic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002013	"" []	3176480	\N	\N	EFO	5	EFO	hematopoietic cell	GlyA-positive basophillic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002013	"" []	3176481	\N	\N	EFO	5	EFO	hematopoietic cell	GlyA-positive basophillic erythroblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002013	"" []	4387107	\N	\N	EFO	6	EFO	cell type	GlyA-positive basophillic erythroblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002013	"" []	4387108	\N	\N	EFO	6	EFO	somatic cell	GlyA-positive basophillic erythroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002013	"" []	5408184	\N	\N	EFO	7	EFO	material entity	GlyA-positive basophillic erythroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002013	"" []	6147146	\N	\N	EFO	8	EFO	experimental factor	GlyA-positive basophillic erythroblast
CL:0002014	\N	\N	"" []	CL:0002014	"" []	63285	\N	\N	EFO	0	EFO	Kit-negative, Ly-76 high basophilic erythroblast	Kit-negative, Ly-76 high basophilic erythroblast
CL:0000549	CL:0002014	\N	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	CL:0002014	"" []	203193	\N	\N	EFO	1	EFO	basophilic erythroblast	Kit-negative, Ly-76 high basophilic erythroblast
CL:0000549	CL:0002014	\N	"A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." []	CL:0002014	"" []	203194	\N	\N	EFO	1	EFO	basophilic erythroblast	Kit-negative, Ly-76 high basophilic erythroblast
CL:0000765	CL:0000549	\N	"A nucleated precursor of an erythrocyte." []	CL:0002014	"" []	556179	\N	\N	EFO	2	EFO	erythroblast	Kit-negative, Ly-76 high basophilic erythroblast
CL:0000765	CL:0000549	\N	"A nucleated precursor of an erythrocyte." []	CL:0002014	"" []	556180	\N	\N	EFO	2	EFO	erythroblast	Kit-negative, Ly-76 high basophilic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002014	"" []	1138861	\N	\N	EFO	3	EFO	erythroid lineage cell	Kit-negative, Ly-76 high basophilic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002014	"" []	1138862	\N	\N	EFO	3	EFO	erythroid lineage cell	Kit-negative, Ly-76 high basophilic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002014	"" []	2021933	\N	\N	EFO	4	EFO	myeloid cell	Kit-negative, Ly-76 high basophilic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002014	"" []	2021934	\N	\N	EFO	4	EFO	myeloid cell	Kit-negative, Ly-76 high basophilic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002014	"" []	3176482	\N	\N	EFO	5	EFO	hematopoietic cell	Kit-negative, Ly-76 high basophilic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002014	"" []	3176483	\N	\N	EFO	5	EFO	hematopoietic cell	Kit-negative, Ly-76 high basophilic erythroblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002014	"" []	4387109	\N	\N	EFO	6	EFO	cell type	Kit-negative, Ly-76 high basophilic erythroblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002014	"" []	4387110	\N	\N	EFO	6	EFO	somatic cell	Kit-negative, Ly-76 high basophilic erythroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002014	"" []	5408185	\N	\N	EFO	7	EFO	material entity	Kit-negative, Ly-76 high basophilic erythroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002014	"" []	6147147	\N	\N	EFO	8	EFO	experimental factor	Kit-negative, Ly-76 high basophilic erythroblast
CL:0002015	\N	\N	"" []	CL:0002015	"" []	63286	\N	\N	EFO	0	EFO	Kit-negative, Ly-76 high polychromatophilic erythroblast	Kit-negative, Ly-76 high polychromatophilic erythroblast
CL:0000550	CL:0002015	\N	"" []	CL:0002015	"" []	203195	\N	\N	EFO	1	EFO	polychromatophilic erythroblast	Kit-negative, Ly-76 high polychromatophilic erythroblast
CL:0000550	CL:0002015	\N	"" []	CL:0002015	"" []	203196	\N	\N	EFO	1	EFO	polychromatophilic erythroblast	Kit-negative, Ly-76 high polychromatophilic erythroblast
CL:0000765	CL:0000550	\N	"A nucleated precursor of an erythrocyte." []	CL:0002015	"" []	556181	\N	\N	EFO	2	EFO	erythroblast	Kit-negative, Ly-76 high polychromatophilic erythroblast
CL:0000765	CL:0000550	\N	"A nucleated precursor of an erythrocyte." []	CL:0002015	"" []	556182	\N	\N	EFO	2	EFO	erythroblast	Kit-negative, Ly-76 high polychromatophilic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002015	"" []	1138863	\N	\N	EFO	3	EFO	erythroid lineage cell	Kit-negative, Ly-76 high polychromatophilic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002015	"" []	1138864	\N	\N	EFO	3	EFO	erythroid lineage cell	Kit-negative, Ly-76 high polychromatophilic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002015	"" []	2021935	\N	\N	EFO	4	EFO	myeloid cell	Kit-negative, Ly-76 high polychromatophilic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002015	"" []	2021936	\N	\N	EFO	4	EFO	myeloid cell	Kit-negative, Ly-76 high polychromatophilic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002015	"" []	3176484	\N	\N	EFO	5	EFO	hematopoietic cell	Kit-negative, Ly-76 high polychromatophilic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002015	"" []	3176485	\N	\N	EFO	5	EFO	hematopoietic cell	Kit-negative, Ly-76 high polychromatophilic erythroblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002015	"" []	4387111	\N	\N	EFO	6	EFO	cell type	Kit-negative, Ly-76 high polychromatophilic erythroblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002015	"" []	4387112	\N	\N	EFO	6	EFO	somatic cell	Kit-negative, Ly-76 high polychromatophilic erythroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002015	"" []	5408186	\N	\N	EFO	7	EFO	material entity	Kit-negative, Ly-76 high polychromatophilic erythroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002015	"" []	6147148	\N	\N	EFO	8	EFO	experimental factor	Kit-negative, Ly-76 high polychromatophilic erythroblast
CL:0002016	\N	\N	"" []	CL:0002016	"" []	63287	\N	\N	EFO	0	EFO	CD71-low, GlyA-positive polychromatic erythroblast	CD71-low, GlyA-positive polychromatic erythroblast
CL:0000550	CL:0002016	\N	"" []	CL:0002016	"" []	203197	\N	\N	EFO	1	EFO	polychromatophilic erythroblast	CD71-low, GlyA-positive polychromatic erythroblast
CL:0000550	CL:0002016	\N	"" []	CL:0002016	"" []	203198	\N	\N	EFO	1	EFO	polychromatophilic erythroblast	CD71-low, GlyA-positive polychromatic erythroblast
CL:0000765	CL:0000550	\N	"A nucleated precursor of an erythrocyte." []	CL:0002016	"" []	556183	\N	\N	EFO	2	EFO	erythroblast	CD71-low, GlyA-positive polychromatic erythroblast
CL:0000765	CL:0000550	\N	"A nucleated precursor of an erythrocyte." []	CL:0002016	"" []	556184	\N	\N	EFO	2	EFO	erythroblast	CD71-low, GlyA-positive polychromatic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002016	"" []	1138865	\N	\N	EFO	3	EFO	erythroid lineage cell	CD71-low, GlyA-positive polychromatic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002016	"" []	1138866	\N	\N	EFO	3	EFO	erythroid lineage cell	CD71-low, GlyA-positive polychromatic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002016	"" []	2021937	\N	\N	EFO	4	EFO	myeloid cell	CD71-low, GlyA-positive polychromatic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002016	"" []	2021938	\N	\N	EFO	4	EFO	myeloid cell	CD71-low, GlyA-positive polychromatic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002016	"" []	3176486	\N	\N	EFO	5	EFO	hematopoietic cell	CD71-low, GlyA-positive polychromatic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002016	"" []	3176487	\N	\N	EFO	5	EFO	hematopoietic cell	CD71-low, GlyA-positive polychromatic erythroblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002016	"" []	4387113	\N	\N	EFO	6	EFO	cell type	CD71-low, GlyA-positive polychromatic erythroblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002016	"" []	4387114	\N	\N	EFO	6	EFO	somatic cell	CD71-low, GlyA-positive polychromatic erythroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002016	"" []	5408187	\N	\N	EFO	7	EFO	material entity	CD71-low, GlyA-positive polychromatic erythroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002016	"" []	6147149	\N	\N	EFO	8	EFO	experimental factor	CD71-low, GlyA-positive polychromatic erythroblast
CL:0002017	\N	\N	"" []	CL:0002017	"" []	63288	\N	\N	EFO	0	EFO	Kit-negative, Ly-76 high orthochromatophilic erythroblasts	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CL:0000552	CL:0002017	\N	"" []	CL:0002017	"" []	203199	\N	\N	EFO	1	EFO	orthochromatic erythroblast	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CL:0000552	CL:0002017	\N	"" []	CL:0002017	"" []	203200	\N	\N	EFO	1	EFO	orthochromatic erythroblast	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CL:0000765	CL:0000552	\N	"A nucleated precursor of an erythrocyte." []	CL:0002017	"" []	556185	\N	\N	EFO	2	EFO	erythroblast	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CL:0000765	CL:0000552	\N	"A nucleated precursor of an erythrocyte." []	CL:0002017	"" []	556186	\N	\N	EFO	2	EFO	erythroblast	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002017	"" []	1138867	\N	\N	EFO	3	EFO	erythroid lineage cell	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002017	"" []	1138868	\N	\N	EFO	3	EFO	erythroid lineage cell	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002017	"" []	2021939	\N	\N	EFO	4	EFO	myeloid cell	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002017	"" []	2021940	\N	\N	EFO	4	EFO	myeloid cell	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002017	"" []	3176488	\N	\N	EFO	5	EFO	hematopoietic cell	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002017	"" []	3176489	\N	\N	EFO	5	EFO	hematopoietic cell	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002017	"" []	4387115	\N	\N	EFO	6	EFO	cell type	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002017	"" []	4387116	\N	\N	EFO	6	EFO	somatic cell	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002017	"" []	5408188	\N	\N	EFO	7	EFO	material entity	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002017	"" []	6147150	\N	\N	EFO	8	EFO	experimental factor	Kit-negative, Ly-76 high orthochromatophilic erythroblasts
CL:0002018	\N	\N	"" []	CL:0002018	"" []	63289	\N	\N	EFO	0	EFO	CD71-negative, GlyA-positive orthochromatic erythroblast	CD71-negative, GlyA-positive orthochromatic erythroblast
CL:0000552	CL:0002018	\N	"" []	CL:0002018	"" []	203201	\N	\N	EFO	1	EFO	orthochromatic erythroblast	CD71-negative, GlyA-positive orthochromatic erythroblast
CL:0000552	CL:0002018	\N	"" []	CL:0002018	"" []	203202	\N	\N	EFO	1	EFO	orthochromatic erythroblast	CD71-negative, GlyA-positive orthochromatic erythroblast
CL:0000765	CL:0000552	\N	"A nucleated precursor of an erythrocyte." []	CL:0002018	"" []	556187	\N	\N	EFO	2	EFO	erythroblast	CD71-negative, GlyA-positive orthochromatic erythroblast
CL:0000765	CL:0000552	\N	"A nucleated precursor of an erythrocyte." []	CL:0002018	"" []	556188	\N	\N	EFO	2	EFO	erythroblast	CD71-negative, GlyA-positive orthochromatic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002018	"" []	1138869	\N	\N	EFO	3	EFO	erythroid lineage cell	CD71-negative, GlyA-positive orthochromatic erythroblast
CL:0000764	CL:0000765	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002018	"" []	1138870	\N	\N	EFO	3	EFO	erythroid lineage cell	CD71-negative, GlyA-positive orthochromatic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002018	"" []	2021941	\N	\N	EFO	4	EFO	myeloid cell	CD71-negative, GlyA-positive orthochromatic erythroblast
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002018	"" []	2021942	\N	\N	EFO	4	EFO	myeloid cell	CD71-negative, GlyA-positive orthochromatic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002018	"" []	3176490	\N	\N	EFO	5	EFO	hematopoietic cell	CD71-negative, GlyA-positive orthochromatic erythroblast
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002018	"" []	3176491	\N	\N	EFO	5	EFO	hematopoietic cell	CD71-negative, GlyA-positive orthochromatic erythroblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002018	"" []	4387117	\N	\N	EFO	6	EFO	cell type	CD71-negative, GlyA-positive orthochromatic erythroblast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002018	"" []	4387118	\N	\N	EFO	6	EFO	somatic cell	CD71-negative, GlyA-positive orthochromatic erythroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002018	"" []	5408189	\N	\N	EFO	7	EFO	material entity	CD71-negative, GlyA-positive orthochromatic erythroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002018	"" []	6147151	\N	\N	EFO	8	EFO	experimental factor	CD71-negative, GlyA-positive orthochromatic erythroblast
CL:0002019	\N	\N	"" []	CL:0002019	"" []	63290	\N	\N	EFO	0	EFO	Ly-76 high reticulocyte	Ly-76 high reticulocyte
CL:0002422	CL:0002019	\N	"" []	CL:0002019	"" []	203203	\N	\N	EFO	1	EFO	enucleated reticulocyte	Ly-76 high reticulocyte
CL:0002422	CL:0002019	\N	"" []	CL:0002019	"" []	203204	\N	\N	EFO	1	EFO	enucleated reticulocyte	Ly-76 high reticulocyte
CL:0000558	CL:0002422	\N	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	CL:0002019	"" []	556189	\N	\N	EFO	2	EFO	reticulocyte	Ly-76 high reticulocyte
CL:0000558	CL:0002422	\N	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	CL:0002019	"" []	556190	\N	\N	EFO	2	EFO	reticulocyte	Ly-76 high reticulocyte
CL:0000764	CL:0000558	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002019	"" []	1138871	\N	\N	EFO	3	EFO	erythroid lineage cell	Ly-76 high reticulocyte
CL:0000764	CL:0000558	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002019	"" []	1138872	\N	\N	EFO	3	EFO	erythroid lineage cell	Ly-76 high reticulocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002019	"" []	2021943	\N	\N	EFO	4	EFO	myeloid cell	Ly-76 high reticulocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002019	"" []	2021944	\N	\N	EFO	4	EFO	myeloid cell	Ly-76 high reticulocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002019	"" []	3176492	\N	\N	EFO	5	EFO	hematopoietic cell	Ly-76 high reticulocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002019	"" []	3176493	\N	\N	EFO	5	EFO	hematopoietic cell	Ly-76 high reticulocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002019	"" []	4387119	\N	\N	EFO	6	EFO	cell type	Ly-76 high reticulocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002019	"" []	4387120	\N	\N	EFO	6	EFO	somatic cell	Ly-76 high reticulocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002019	"" []	5408190	\N	\N	EFO	7	EFO	material entity	Ly-76 high reticulocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002019	"" []	6147152	\N	\N	EFO	8	EFO	experimental factor	Ly-76 high reticulocyte
CL:0002020	\N	\N	"" []	CL:0002020	"" []	63291	\N	\N	EFO	0	EFO	GlyA-positive reticulocytes	GlyA-positive reticulocytes
CL:0002422	CL:0002020	\N	"" []	CL:0002020	"" []	203205	\N	\N	EFO	1	EFO	enucleated reticulocyte	GlyA-positive reticulocytes
CL:0002422	CL:0002020	\N	"" []	CL:0002020	"" []	203206	\N	\N	EFO	1	EFO	enucleated reticulocyte	GlyA-positive reticulocytes
CL:0000558	CL:0002422	\N	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	CL:0002020	"" []	556191	\N	\N	EFO	2	EFO	reticulocyte	GlyA-positive reticulocytes
CL:0000558	CL:0002422	\N	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	CL:0002020	"" []	556192	\N	\N	EFO	2	EFO	reticulocyte	GlyA-positive reticulocytes
CL:0000764	CL:0000558	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002020	"" []	1138873	\N	\N	EFO	3	EFO	erythroid lineage cell	GlyA-positive reticulocytes
CL:0000764	CL:0000558	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002020	"" []	1138874	\N	\N	EFO	3	EFO	erythroid lineage cell	GlyA-positive reticulocytes
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002020	"" []	2021945	\N	\N	EFO	4	EFO	myeloid cell	GlyA-positive reticulocytes
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002020	"" []	2021946	\N	\N	EFO	4	EFO	myeloid cell	GlyA-positive reticulocytes
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002020	"" []	3176494	\N	\N	EFO	5	EFO	hematopoietic cell	GlyA-positive reticulocytes
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002020	"" []	3176495	\N	\N	EFO	5	EFO	hematopoietic cell	GlyA-positive reticulocytes
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002020	"" []	4387121	\N	\N	EFO	6	EFO	cell type	GlyA-positive reticulocytes
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002020	"" []	4387122	\N	\N	EFO	6	EFO	somatic cell	GlyA-positive reticulocytes
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002020	"" []	5408191	\N	\N	EFO	7	EFO	material entity	GlyA-positive reticulocytes
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002020	"" []	6147153	\N	\N	EFO	8	EFO	experimental factor	GlyA-positive reticulocytes
CL:0002021	\N	\N	"" []	CL:0002021	"" []	63292	\N	\N	EFO	0	EFO	GlyA-positive erythrocyte	GlyA-positive erythrocyte
CL:0000595	CL:0002021	\N	"" []	CL:0002021	"" []	203207	\N	\N	EFO	1	EFO	enucleate erythrocyte	GlyA-positive erythrocyte
CL:0000595	CL:0002021	\N	"" []	CL:0002021	"" []	203208	\N	\N	EFO	1	EFO	enucleate erythrocyte	GlyA-positive erythrocyte
CL:0000232	CL:0000595	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0002021	"" []	556193	\N	\N	EFO	2	EFO	erythrocyte	GlyA-positive erythrocyte
CL:0000232	CL:0000595	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0002021	"" []	556194	\N	\N	EFO	2	EFO	erythrocyte	GlyA-positive erythrocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002021	"" []	1138875	\N	\N	EFO	3	EFO	erythroid lineage cell	GlyA-positive erythrocyte
CL:0000081	CL:0000232	\N	"A cell found predominately in the blood." []	CL:0002021	"" []	1138876	\N	\N	EFO	3	EFO	blood cell	GlyA-positive erythrocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002021	"" []	1138877	\N	\N	EFO	3	EFO	erythroid lineage cell	GlyA-positive erythrocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002021	"" []	2021947	\N	\N	EFO	4	EFO	myeloid cell	GlyA-positive erythrocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0002021	"" []	2021948	\N	\N	EFO	4	EFO	hematopoietic cell	GlyA-positive erythrocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002021	"" []	2021949	\N	\N	EFO	4	EFO	myeloid cell	GlyA-positive erythrocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002021	"" []	3176496	\N	\N	EFO	5	EFO	hematopoietic cell	GlyA-positive erythrocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002021	"" []	4387124	\N	\N	EFO	6	EFO	somatic cell	GlyA-positive erythrocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002021	"" []	3176498	\N	\N	EFO	5	EFO	hematopoietic cell	GlyA-positive erythrocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002021	"" []	4387123	\N	\N	EFO	6	EFO	cell type	GlyA-positive erythrocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002021	"" []	5408192	\N	\N	EFO	7	EFO	material entity	GlyA-positive erythrocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002021	"" []	6147154	\N	\N	EFO	8	EFO	experimental factor	GlyA-positive erythrocyte
CL:0002022	\N	\N	"" []	CL:0002022	"" []	63293	\N	\N	EFO	0	EFO	Ly-76 high positive erythrocyte	Ly-76 high positive erythrocyte
CL:0000595	CL:0002022	\N	"" []	CL:0002022	"" []	203209	\N	\N	EFO	1	EFO	enucleate erythrocyte	Ly-76 high positive erythrocyte
CL:0000595	CL:0002022	\N	"" []	CL:0002022	"" []	203210	\N	\N	EFO	1	EFO	enucleate erythrocyte	Ly-76 high positive erythrocyte
CL:0000232	CL:0000595	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0002022	"" []	556195	\N	\N	EFO	2	EFO	erythrocyte	Ly-76 high positive erythrocyte
CL:0000232	CL:0000595	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0002022	"" []	556196	\N	\N	EFO	2	EFO	erythrocyte	Ly-76 high positive erythrocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002022	"" []	1138878	\N	\N	EFO	3	EFO	erythroid lineage cell	Ly-76 high positive erythrocyte
CL:0000081	CL:0000232	\N	"A cell found predominately in the blood." []	CL:0002022	"" []	1138879	\N	\N	EFO	3	EFO	blood cell	Ly-76 high positive erythrocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002022	"" []	1138880	\N	\N	EFO	3	EFO	erythroid lineage cell	Ly-76 high positive erythrocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002022	"" []	2021950	\N	\N	EFO	4	EFO	myeloid cell	Ly-76 high positive erythrocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0002022	"" []	2021951	\N	\N	EFO	4	EFO	hematopoietic cell	Ly-76 high positive erythrocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002022	"" []	2021952	\N	\N	EFO	4	EFO	myeloid cell	Ly-76 high positive erythrocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002022	"" []	3176499	\N	\N	EFO	5	EFO	hematopoietic cell	Ly-76 high positive erythrocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002022	"" []	4387126	\N	\N	EFO	6	EFO	somatic cell	Ly-76 high positive erythrocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002022	"" []	3176501	\N	\N	EFO	5	EFO	hematopoietic cell	Ly-76 high positive erythrocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002022	"" []	4387125	\N	\N	EFO	6	EFO	cell type	Ly-76 high positive erythrocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002022	"" []	5408193	\N	\N	EFO	7	EFO	material entity	Ly-76 high positive erythrocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002022	"" []	6147155	\N	\N	EFO	8	EFO	experimental factor	Ly-76 high positive erythrocyte
CL:0002023	\N	\N	"" []	CL:0002023	"" []	63294	\N	\N	EFO	0	EFO	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
CL:0000553	CL:0002023	\N	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	CL:0002023	"" []	203211	\N	\N	EFO	1	EFO	megakaryocyte progenitor cell	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
CL:0000553	CL:0002023	\N	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	CL:0002023	"" []	203212	\N	\N	EFO	1	EFO	megakaryocyte progenitor cell	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
CL:0000839	CL:0000553	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002023	"" []	556197	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
CL:0000763	CL:0000553	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002023	"" []	556198	\N	\N	EFO	2	EFO	myeloid cell	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
CL:0000839	CL:0000553	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002023	"" []	556199	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002023	"" []	1138881	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002023	"" []	1138882	\N	\N	EFO	3	EFO	hematopoietic cell	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002023	"" []	1138883	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002023	"" []	2021953	\N	\N	EFO	4	EFO	hematopoietic cell	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002023	"" []	2021954	\N	\N	EFO	4	EFO	somatic cell	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002023	"" []	3176502	\N	\N	EFO	5	EFO	cell type	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002023	"" []	4387127	\N	\N	EFO	6	EFO	material entity	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002023	"" []	5408194	\N	\N	EFO	7	EFO	experimental factor	CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
CL:0002024	\N	\N	"" []	CL:0002024	"" []	63295	\N	\N	EFO	0	EFO	Kit-positive megakaryocyte progenitor cell	Kit-positive megakaryocyte progenitor cell
CL:0000553	CL:0002024	\N	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	CL:0002024	"" []	203213	\N	\N	EFO	1	EFO	megakaryocyte progenitor cell	Kit-positive megakaryocyte progenitor cell
CL:0000553	CL:0002024	\N	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	CL:0002024	"" []	203214	\N	\N	EFO	1	EFO	megakaryocyte progenitor cell	Kit-positive megakaryocyte progenitor cell
CL:0000839	CL:0000553	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002024	"" []	556200	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	Kit-positive megakaryocyte progenitor cell
CL:0000763	CL:0000553	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002024	"" []	556201	\N	\N	EFO	2	EFO	myeloid cell	Kit-positive megakaryocyte progenitor cell
CL:0000839	CL:0000553	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002024	"" []	556202	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	Kit-positive megakaryocyte progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002024	"" []	1138884	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Kit-positive megakaryocyte progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002024	"" []	1138885	\N	\N	EFO	3	EFO	hematopoietic cell	Kit-positive megakaryocyte progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002024	"" []	1138886	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Kit-positive megakaryocyte progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002024	"" []	2021955	\N	\N	EFO	4	EFO	hematopoietic cell	Kit-positive megakaryocyte progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002024	"" []	2021956	\N	\N	EFO	4	EFO	somatic cell	Kit-positive megakaryocyte progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002024	"" []	3176503	\N	\N	EFO	5	EFO	cell type	Kit-positive megakaryocyte progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002024	"" []	4387128	\N	\N	EFO	6	EFO	material entity	Kit-positive megakaryocyte progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002024	"" []	5408195	\N	\N	EFO	7	EFO	experimental factor	Kit-positive megakaryocyte progenitor cell
CL:0002025	\N	\N	"" []	CL:0002025	"" []	63296	\N	\N	EFO	0	EFO	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
CL:0000553	CL:0002025	\N	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	CL:0002025	"" []	203215	\N	\N	EFO	1	EFO	megakaryocyte progenitor cell	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
CL:0000553	CL:0002025	\N	"The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." []	CL:0002025	"" []	203216	\N	\N	EFO	1	EFO	megakaryocyte progenitor cell	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
CL:0000839	CL:0000553	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002025	"" []	556203	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
CL:0000763	CL:0000553	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002025	"" []	556204	\N	\N	EFO	2	EFO	myeloid cell	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
CL:0000839	CL:0000553	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002025	"" []	556205	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002025	"" []	1138887	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002025	"" []	1138888	\N	\N	EFO	3	EFO	hematopoietic cell	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002025	"" []	1138889	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002025	"" []	2021957	\N	\N	EFO	4	EFO	hematopoietic cell	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002025	"" []	2021958	\N	\N	EFO	4	EFO	somatic cell	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002025	"" []	3176504	\N	\N	EFO	5	EFO	cell type	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002025	"" []	4387129	\N	\N	EFO	6	EFO	material entity	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002025	"" []	5408196	\N	\N	EFO	7	EFO	experimental factor	CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
CL:0002026	\N	\N	"" []	CL:0002026	"" []	63297	\N	\N	EFO	0	EFO	CD34-negative, CD41-positive, CD42-positive megakaryocyte cell	CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
CL:0000556	CL:0002026	\N	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	CL:0002026	"" []	203217	\N	\N	EFO	1	EFO	megakaryocyte	CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
CL:0000556	CL:0002026	\N	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	CL:0002026	"" []	203218	\N	\N	EFO	1	EFO	megakaryocyte	CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
CL:0000763	CL:0000556	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002026	"" []	556206	\N	\N	EFO	2	EFO	myeloid cell	CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
CL:0000763	CL:0000556	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002026	"" []	556207	\N	\N	EFO	2	EFO	myeloid cell	CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002026	"" []	1138890	\N	\N	EFO	3	EFO	hematopoietic cell	CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002026	"" []	1138891	\N	\N	EFO	3	EFO	hematopoietic cell	CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002026	"" []	2021959	\N	\N	EFO	4	EFO	cell type	CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002026	"" []	2021960	\N	\N	EFO	4	EFO	somatic cell	CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002026	"" []	3176505	\N	\N	EFO	5	EFO	material entity	CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002026	"" []	4387130	\N	\N	EFO	6	EFO	experimental factor	CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
CL:0002027	\N	\N	"" []	CL:0002027	"" []	63298	\N	\N	EFO	0	EFO	CD9-positive, CD41-positive megakaryocyte cell	CD9-positive, CD41-positive megakaryocyte cell
CL:0000556	CL:0002027	\N	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	CL:0002027	"" []	203219	\N	\N	EFO	1	EFO	megakaryocyte	CD9-positive, CD41-positive megakaryocyte cell
CL:0000556	CL:0002027	\N	"A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets." []	CL:0002027	"" []	203220	\N	\N	EFO	1	EFO	megakaryocyte	CD9-positive, CD41-positive megakaryocyte cell
CL:0000763	CL:0000556	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002027	"" []	556208	\N	\N	EFO	2	EFO	myeloid cell	CD9-positive, CD41-positive megakaryocyte cell
CL:0000763	CL:0000556	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002027	"" []	556209	\N	\N	EFO	2	EFO	myeloid cell	CD9-positive, CD41-positive megakaryocyte cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002027	"" []	1138892	\N	\N	EFO	3	EFO	hematopoietic cell	CD9-positive, CD41-positive megakaryocyte cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002027	"" []	1138893	\N	\N	EFO	3	EFO	hematopoietic cell	CD9-positive, CD41-positive megakaryocyte cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002027	"" []	2021961	\N	\N	EFO	4	EFO	cell type	CD9-positive, CD41-positive megakaryocyte cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002027	"" []	2021962	\N	\N	EFO	4	EFO	somatic cell	CD9-positive, CD41-positive megakaryocyte cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002027	"" []	3176506	\N	\N	EFO	5	EFO	material entity	CD9-positive, CD41-positive megakaryocyte cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002027	"" []	4387131	\N	\N	EFO	6	EFO	experimental factor	CD9-positive, CD41-positive megakaryocyte cell
CL:0002028	\N	\N	"" []	CL:0002028	"" []	63299	\N	\N	EFO	0	EFO	basophil mast progenitor cell	basophil mast progenitor cell
CL:0000763	CL:0002028	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002028	"" []	203221	\N	\N	EFO	1	EFO	myeloid cell	basophil mast progenitor cell
CL:0000839	CL:0002028	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002028	"" []	203222	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	basophil mast progenitor cell
CL:0002191	CL:0002028	\N	"" []	CL:0002028	"" []	203223	\N	\N	EFO	1	EFO	granulocytopoietic cell	basophil mast progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002028	"" []	556210	\N	\N	EFO	2	EFO	hematopoietic cell	basophil mast progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002028	"" []	556211	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	basophil mast progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002028	"" []	556212	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	basophil mast progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002028	"" []	1138894	\N	\N	EFO	3	EFO	somatic cell	basophil mast progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002028	"" []	1138895	\N	\N	EFO	3	EFO	hematopoietic cell	basophil mast progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002028	"" []	1138896	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	basophil mast progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002028	"" []	2021963	\N	\N	EFO	4	EFO	cell type	basophil mast progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002028	"" []	3176507	\N	\N	EFO	5	EFO	material entity	basophil mast progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002028	"" []	4387132	\N	\N	EFO	6	EFO	experimental factor	basophil mast progenitor cell
CL:0002029	\N	\N	"" []	CL:0002029	"" []	63300	\N	\N	EFO	0	EFO	Fc-epsilon RIalpha-low mast cell progenitor	Fc-epsilon RIalpha-low mast cell progenitor
CL:0000831	CL:0002029	\N	"" []	CL:0002029	"" []	203224	\N	\N	EFO	1	EFO	mast cell progenitor	Fc-epsilon RIalpha-low mast cell progenitor
CL:0000831	CL:0002029	\N	"" []	CL:0002029	"" []	203225	\N	\N	EFO	1	EFO	mast cell progenitor	Fc-epsilon RIalpha-low mast cell progenitor
CL:0000839	CL:0000831	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002029	"" []	556213	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	Fc-epsilon RIalpha-low mast cell progenitor
CL:0000763	CL:0000831	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002029	"" []	556214	\N	\N	EFO	2	EFO	myeloid cell	Fc-epsilon RIalpha-low mast cell progenitor
CL:0000839	CL:0000831	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002029	"" []	556215	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	Fc-epsilon RIalpha-low mast cell progenitor
CL:0002031	CL:0000839	\N	"" []	CL:0002029	"" []	1138897	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Fc-epsilon RIalpha-low mast cell progenitor
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002029	"" []	1138898	\N	\N	EFO	3	EFO	hematopoietic cell	Fc-epsilon RIalpha-low mast cell progenitor
CL:0002031	CL:0000839	\N	"" []	CL:0002029	"" []	1138899	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Fc-epsilon RIalpha-low mast cell progenitor
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002029	"" []	2021964	\N	\N	EFO	4	EFO	hematopoietic cell	Fc-epsilon RIalpha-low mast cell progenitor
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002029	"" []	2021965	\N	\N	EFO	4	EFO	somatic cell	Fc-epsilon RIalpha-low mast cell progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002029	"" []	3176508	\N	\N	EFO	5	EFO	cell type	Fc-epsilon RIalpha-low mast cell progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002029	"" []	4387133	\N	\N	EFO	6	EFO	material entity	Fc-epsilon RIalpha-low mast cell progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002029	"" []	5408197	\N	\N	EFO	7	EFO	experimental factor	Fc-epsilon RIalpha-low mast cell progenitor
CL:0002030	\N	\N	"" []	CL:0002030	"" []	63301	\N	\N	EFO	0	EFO	Fc-epsilon RIalpha-high basophil progenitor cell	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0000613	CL:0002030	\N	"" []	CL:0002030	"" []	203226	\N	\N	EFO	1	EFO	basophil progenitor cell	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0000613	CL:0002030	\N	"" []	CL:0002030	"" []	203227	\N	\N	EFO	1	EFO	basophil progenitor cell	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0002191	CL:0000613	\N	"" []	CL:0002030	"" []	556216	\N	\N	EFO	2	EFO	granulocytopoietic cell	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0000763	CL:0000613	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002030	"" []	556217	\N	\N	EFO	2	EFO	myeloid cell	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0002191	CL:0000613	\N	"" []	CL:0002030	"" []	556218	\N	\N	EFO	2	EFO	granulocytopoietic cell	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002030	"" []	1138900	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002030	"" []	1138901	\N	\N	EFO	3	EFO	hematopoietic cell	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002030	"" []	1138902	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002030	"" []	2021966	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002030	"" []	2021967	\N	\N	EFO	4	EFO	somatic cell	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002030	"" []	2021968	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002030	"" []	3176509	\N	\N	EFO	5	EFO	hematopoietic cell	Fc-epsilon RIalpha-high basophil progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002030	"" []	4387134	\N	\N	EFO	6	EFO	cell type	Fc-epsilon RIalpha-high basophil progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002030	"" []	5408198	\N	\N	EFO	7	EFO	material entity	Fc-epsilon RIalpha-high basophil progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002030	"" []	6147156	\N	\N	EFO	8	EFO	experimental factor	Fc-epsilon RIalpha-high basophil progenitor cell
CL:0002031	\N	\N	"" []	CL:0002031	"" []	63302	\N	\N	EFO	0	EFO	hematopoietic lineage restricted progenitor cell	hematopoietic lineage restricted progenitor cell
CL:0008001	\N	\N	"Any hematopoietic cell that is a precursor of some other hematopoietic cell type." [GOC:dos]	CL:0002031	"" []	194226	\N	\N	EFO	0	EFO	hematopoietic precursor cell	hematopoietic lineage restricted progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002031	"" []	203228	\N	\N	EFO	1	EFO	hematopoietic cell	hematopoietic lineage restricted progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002031	"" []	556219	\N	\N	EFO	2	EFO	cell type	hematopoietic lineage restricted progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002031	"" []	1138903	\N	\N	EFO	3	EFO	material entity	hematopoietic lineage restricted progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002031	"" []	2021969	\N	\N	EFO	4	EFO	experimental factor	hematopoietic lineage restricted progenitor cell
CL:0002032	\N	\N	"" []	CL:0002032	"" []	63303	\N	\N	EFO	0	EFO	hematopoietic oligopotent progenitor cell	hematopoietic oligopotent progenitor cell
CL:0008001	\N	\N	"Any hematopoietic cell that is a precursor of some other hematopoietic cell type." [GOC:dos]	CL:0002032	"" []	194227	\N	\N	EFO	0	EFO	hematopoietic precursor cell	hematopoietic oligopotent progenitor cell
CL:0000988	CL:0002032	\N	"A cell of a hematopoietic lineage." []	CL:0002032	"" []	203229	\N	\N	EFO	1	EFO	hematopoietic cell	hematopoietic oligopotent progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002032	"" []	556220	\N	\N	EFO	2	EFO	cell type	hematopoietic oligopotent progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002032	"" []	1138904	\N	\N	EFO	3	EFO	material entity	hematopoietic oligopotent progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002032	"" []	2021970	\N	\N	EFO	4	EFO	experimental factor	hematopoietic oligopotent progenitor cell
CL:0002033	\N	\N	"" []	CL:0002033	"" []	63304	\N	\N	EFO	0	EFO	short term hematopoietic stem cell	short term hematopoietic stem cell
CL:0001008	CL:0002033	\N	"" []	CL:0002033	"" []	203230	\N	\N	EFO	1	EFO	Kit and Sca1-positive hematopoietic stem cell	short term hematopoietic stem cell
CL:0001008	CL:0002033	\N	"" []	CL:0002033	"" []	203231	\N	\N	EFO	1	EFO	Kit and Sca1-positive hematopoietic stem cell	short term hematopoietic stem cell
CL:0000037	CL:0001008	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002033	"" []	556221	\N	\N	EFO	2	EFO	hematopoietic stem cell	short term hematopoietic stem cell
CL:0000037	CL:0001008	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002033	"" []	556222	\N	\N	EFO	2	EFO	hematopoietic stem cell	short term hematopoietic stem cell
CL:0000988	CL:0000037	\N	"A cell of a hematopoietic lineage." []	CL:0002033	"" []	1138905	\N	\N	EFO	3	EFO	hematopoietic cell	short term hematopoietic stem cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002033	"" []	2021971	\N	\N	EFO	4	EFO	cell type	short term hematopoietic stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002033	"" []	3176510	\N	\N	EFO	5	EFO	material entity	short term hematopoietic stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002033	"" []	4387135	\N	\N	EFO	6	EFO	experimental factor	short term hematopoietic stem cell
CL:0002034	\N	\N	"" []	CL:0002034	"" []	63305	\N	\N	EFO	0	EFO	long term hematopoietic stem cell	long term hematopoietic stem cell
CL:0001008	CL:0002034	\N	"" []	CL:0002034	"" []	203232	\N	\N	EFO	1	EFO	Kit and Sca1-positive hematopoietic stem cell	long term hematopoietic stem cell
CL:0001008	CL:0002034	\N	"" []	CL:0002034	"" []	203233	\N	\N	EFO	1	EFO	Kit and Sca1-positive hematopoietic stem cell	long term hematopoietic stem cell
CL:0000037	CL:0001008	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002034	"" []	556223	\N	\N	EFO	2	EFO	hematopoietic stem cell	long term hematopoietic stem cell
CL:0000037	CL:0001008	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002034	"" []	556224	\N	\N	EFO	2	EFO	hematopoietic stem cell	long term hematopoietic stem cell
CL:0000988	CL:0000037	\N	"A cell of a hematopoietic lineage." []	CL:0002034	"" []	1138906	\N	\N	EFO	3	EFO	hematopoietic cell	long term hematopoietic stem cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002034	"" []	2021972	\N	\N	EFO	4	EFO	cell type	long term hematopoietic stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002034	"" []	3176511	\N	\N	EFO	5	EFO	material entity	long term hematopoietic stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002034	"" []	4387136	\N	\N	EFO	6	EFO	experimental factor	long term hematopoietic stem cell
CL:0002035	\N	\N	"" []	CL:0002035	"" []	63306	\N	\N	EFO	0	EFO	Slamf1-negative multipotent progenitor cell	Slamf1-negative multipotent progenitor cell
CL:0000837	CL:0002035	\N	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	CL:0002035	"" []	203234	\N	\N	EFO	1	EFO	hematopoietic multipotent progenitor cell	Slamf1-negative multipotent progenitor cell
CL:0000837	CL:0002035	\N	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	CL:0002035	"" []	203235	\N	\N	EFO	1	EFO	hematopoietic multipotent progenitor cell	Slamf1-negative multipotent progenitor cell
CL:0000988	CL:0000837	\N	"A cell of a hematopoietic lineage." []	CL:0002035	"" []	556225	\N	\N	EFO	2	EFO	hematopoietic cell	Slamf1-negative multipotent progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002035	"" []	1138907	\N	\N	EFO	3	EFO	cell type	Slamf1-negative multipotent progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002035	"" []	2021973	\N	\N	EFO	4	EFO	material entity	Slamf1-negative multipotent progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002035	"" []	3176512	\N	\N	EFO	5	EFO	experimental factor	Slamf1-negative multipotent progenitor cell
CL:0002036	\N	\N	"" []	CL:0002036	"" []	63307	\N	\N	EFO	0	EFO	Slamf1-positive multipotent progenitor cell	Slamf1-positive multipotent progenitor cell
CL:0000837	CL:0002036	\N	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	CL:0002036	"" []	203236	\N	\N	EFO	1	EFO	hematopoietic multipotent progenitor cell	Slamf1-positive multipotent progenitor cell
CL:0000837	CL:0002036	\N	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	CL:0002036	"" []	203237	\N	\N	EFO	1	EFO	hematopoietic multipotent progenitor cell	Slamf1-positive multipotent progenitor cell
CL:0000988	CL:0000837	\N	"A cell of a hematopoietic lineage." []	CL:0002036	"" []	556226	\N	\N	EFO	2	EFO	hematopoietic cell	Slamf1-positive multipotent progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002036	"" []	1138908	\N	\N	EFO	3	EFO	cell type	Slamf1-positive multipotent progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002036	"" []	2021974	\N	\N	EFO	4	EFO	material entity	Slamf1-positive multipotent progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002036	"" []	3176513	\N	\N	EFO	5	EFO	experimental factor	Slamf1-positive multipotent progenitor cell
CL:0002037	\N	\N	"" []	CL:0002037	"" []	63308	\N	\N	EFO	0	EFO	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000793	CL:0002037	\N	"" []	CL:0002037	"" []	203238	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta intraepithelial T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000793	CL:0002037	\N	"" []	CL:0002037	"" []	203239	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta intraepithelial T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000624	CL:0000793	\N	"" []	CL:0002037	"" []	556227	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000624	CL:0000793	\N	"" []	CL:0002037	"" []	556228	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000797	CL:0000793	\N	"" []	CL:0002037	"" []	556229	\N	\N	EFO	2	EFO	alpha-beta intraepithelial T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000791	CL:0000624	\N	"" []	CL:0002037	"" []	1138909	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000791	CL:0000624	\N	"" []	CL:0002037	"" []	1138910	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000791	CL:0000797	\N	"" []	CL:0002037	"" []	1138911	\N	\N	EFO	3	EFO	mature alpha-beta T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0002496	CL:0000797	\N	"" []	CL:0002037	"" []	1138912	\N	\N	EFO	3	EFO	intraepithelial lymphocyte	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000789	CL:0000791	\N	"" []	CL:0002037	"" []	2021975	\N	\N	EFO	4	EFO	alpha-beta T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000789	CL:0000791	\N	"" []	CL:0002037	"" []	2021976	\N	\N	EFO	4	EFO	alpha-beta T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0002419	CL:0000791	\N	"" []	CL:0002037	"" []	2021977	\N	\N	EFO	4	EFO	mature T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0002419	CL:0002496	\N	"" []	CL:0002037	"" []	2021978	\N	\N	EFO	4	EFO	mature T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002037	"" []	3176514	\N	\N	EFO	5	EFO	T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002037	"" []	3176515	\N	\N	EFO	5	EFO	T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002037	"" []	3176516	\N	\N	EFO	5	EFO	T cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002037	"" []	4387137	\N	\N	EFO	6	EFO	lymphocyte	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002037	"" []	4387138	\N	\N	EFO	6	EFO	lymphocyte	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002037	"" []	5408199	\N	\N	EFO	7	EFO	leukocyte	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0002087	CL:0000542	\N	"" []	CL:0002037	"" []	5408200	\N	\N	EFO	7	EFO	nongranular leukocyte	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002037	"" []	6147157	\N	\N	EFO	8	EFO	hematopoietic cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002037	"" []	6147158	\N	\N	EFO	8	EFO	leukocyte	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002037	"" []	6631680	\N	\N	EFO	9	EFO	cell type	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002037	"" []	6631681	\N	\N	EFO	9	EFO	hematopoietic cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002037	"" []	6925218	\N	\N	EFO	10	EFO	material entity	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002037	"" []	6925219	\N	\N	EFO	10	EFO	somatic cell	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002037	"" []	7098945	\N	\N	EFO	11	EFO	experimental factor	CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
CL:0002038	\N	\N	"" []	CL:0002038	"" []	63309	\N	\N	EFO	0	EFO	T follicular helper cell	T follicular helper cell
CL:0000492	CL:0002038	\N	"" []	CL:0002038	"" []	203240	\N	\N	EFO	1	EFO	CD4-positive helper T cell	T follicular helper cell
CL:0000492	CL:0002038	\N	"" []	CL:0002038	"" []	203241	\N	\N	EFO	1	EFO	CD4-positive helper T cell	T follicular helper cell
CL:0000624	CL:0000492	\N	"" []	CL:0002038	"" []	556230	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	T follicular helper cell
CL:0000624	CL:0000492	\N	"" []	CL:0002038	"" []	556231	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	T follicular helper cell
CL:0000912	CL:0000492	\N	"" []	CL:0002038	"" []	556232	\N	\N	EFO	2	EFO	helper T cell	T follicular helper cell
CL:0000791	CL:0000624	\N	"" []	CL:0002038	"" []	1138913	\N	\N	EFO	3	EFO	mature alpha-beta T cell	T follicular helper cell
CL:0000791	CL:0000624	\N	"" []	CL:0002038	"" []	1138914	\N	\N	EFO	3	EFO	mature alpha-beta T cell	T follicular helper cell
CL:0000911	CL:0000912	\N	"" []	CL:0002038	"" []	1138915	\N	\N	EFO	3	EFO	effector T cell	T follicular helper cell
CL:0000789	CL:0000791	\N	"" []	CL:0002038	"" []	2021979	\N	\N	EFO	4	EFO	alpha-beta T cell	T follicular helper cell
CL:0000789	CL:0000791	\N	"" []	CL:0002038	"" []	2021980	\N	\N	EFO	4	EFO	alpha-beta T cell	T follicular helper cell
CL:0002419	CL:0000791	\N	"" []	CL:0002038	"" []	2021981	\N	\N	EFO	4	EFO	mature T cell	T follicular helper cell
CL:0002419	CL:0000911	\N	"" []	CL:0002038	"" []	2021982	\N	\N	EFO	4	EFO	mature T cell	T follicular helper cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002038	"" []	3176517	\N	\N	EFO	5	EFO	T cell	T follicular helper cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002038	"" []	3176518	\N	\N	EFO	5	EFO	T cell	T follicular helper cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002038	"" []	3176519	\N	\N	EFO	5	EFO	T cell	T follicular helper cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002038	"" []	4387139	\N	\N	EFO	6	EFO	lymphocyte	T follicular helper cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002038	"" []	4387140	\N	\N	EFO	6	EFO	lymphocyte	T follicular helper cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002038	"" []	5408201	\N	\N	EFO	7	EFO	leukocyte	T follicular helper cell
CL:0002087	CL:0000542	\N	"" []	CL:0002038	"" []	5408202	\N	\N	EFO	7	EFO	nongranular leukocyte	T follicular helper cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002038	"" []	6147159	\N	\N	EFO	8	EFO	hematopoietic cell	T follicular helper cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002038	"" []	6147160	\N	\N	EFO	8	EFO	leukocyte	T follicular helper cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002038	"" []	6631682	\N	\N	EFO	9	EFO	cell type	T follicular helper cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002038	"" []	6631683	\N	\N	EFO	9	EFO	hematopoietic cell	T follicular helper cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002038	"" []	6925220	\N	\N	EFO	10	EFO	material entity	T follicular helper cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002038	"" []	6925221	\N	\N	EFO	10	EFO	somatic cell	T follicular helper cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002038	"" []	7098946	\N	\N	EFO	11	EFO	experimental factor	T follicular helper cell
CL:0002039	\N	\N	"" []	CL:0002039	"" []	63310	\N	\N	EFO	0	EFO	immature NK T cell stage I	immature NK T cell stage I
CL:0000914	CL:0002039	\N	"" []	CL:0002039	"" []	203242	\N	\N	EFO	1	EFO	immature NK T cell	immature NK T cell stage I
CL:0000914	CL:0002039	\N	"" []	CL:0002039	"" []	203243	\N	\N	EFO	1	EFO	immature NK T cell	immature NK T cell stage I
CL:0000790	CL:0000914	\N	"" []	CL:0002039	"" []	556233	\N	\N	EFO	2	EFO	immature alpha-beta T cell	immature NK T cell stage I
CL:0000790	CL:0000914	\N	"" []	CL:0002039	"" []	556234	\N	\N	EFO	2	EFO	immature alpha-beta T cell	immature NK T cell stage I
CL:0000789	CL:0000790	\N	"" []	CL:0002039	"" []	1138916	\N	\N	EFO	3	EFO	alpha-beta T cell	immature NK T cell stage I
CL:0000789	CL:0000790	\N	"" []	CL:0002039	"" []	1138917	\N	\N	EFO	3	EFO	alpha-beta T cell	immature NK T cell stage I
CL:0002420	CL:0000790	\N	"" []	CL:0002039	"" []	1138918	\N	\N	EFO	3	EFO	immature T cell	immature NK T cell stage I
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002039	"" []	2021983	\N	\N	EFO	4	EFO	T cell	immature NK T cell stage I
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002039	"" []	2021984	\N	\N	EFO	4	EFO	T cell	immature NK T cell stage I
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002039	"" []	2021985	\N	\N	EFO	4	EFO	T cell	immature NK T cell stage I
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002039	"" []	3176520	\N	\N	EFO	5	EFO	lymphocyte	immature NK T cell stage I
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002039	"" []	3176521	\N	\N	EFO	5	EFO	lymphocyte	immature NK T cell stage I
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002039	"" []	4387141	\N	\N	EFO	6	EFO	leukocyte	immature NK T cell stage I
CL:0002087	CL:0000542	\N	"" []	CL:0002039	"" []	4387142	\N	\N	EFO	6	EFO	nongranular leukocyte	immature NK T cell stage I
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002039	"" []	5408203	\N	\N	EFO	7	EFO	hematopoietic cell	immature NK T cell stage I
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002039	"" []	5408204	\N	\N	EFO	7	EFO	leukocyte	immature NK T cell stage I
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002039	"" []	6147161	\N	\N	EFO	8	EFO	cell type	immature NK T cell stage I
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002039	"" []	6147162	\N	\N	EFO	8	EFO	hematopoietic cell	immature NK T cell stage I
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002039	"" []	6631684	\N	\N	EFO	9	EFO	material entity	immature NK T cell stage I
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002039	"" []	6631685	\N	\N	EFO	9	EFO	somatic cell	immature NK T cell stage I
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002039	"" []	6925222	\N	\N	EFO	10	EFO	experimental factor	immature NK T cell stage I
CL:0002040	\N	\N	"" []	CL:0002040	"" []	63311	\N	\N	EFO	0	EFO	immature NK T cell stage II	immature NK T cell stage II
CL:0000914	CL:0002040	\N	"" []	CL:0002040	"" []	203244	\N	\N	EFO	1	EFO	immature NK T cell	immature NK T cell stage II
CL:0000914	CL:0002040	\N	"" []	CL:0002040	"" []	203245	\N	\N	EFO	1	EFO	immature NK T cell	immature NK T cell stage II
CL:0000790	CL:0000914	\N	"" []	CL:0002040	"" []	556235	\N	\N	EFO	2	EFO	immature alpha-beta T cell	immature NK T cell stage II
CL:0000790	CL:0000914	\N	"" []	CL:0002040	"" []	556236	\N	\N	EFO	2	EFO	immature alpha-beta T cell	immature NK T cell stage II
CL:0000789	CL:0000790	\N	"" []	CL:0002040	"" []	1138919	\N	\N	EFO	3	EFO	alpha-beta T cell	immature NK T cell stage II
CL:0000789	CL:0000790	\N	"" []	CL:0002040	"" []	1138920	\N	\N	EFO	3	EFO	alpha-beta T cell	immature NK T cell stage II
CL:0002420	CL:0000790	\N	"" []	CL:0002040	"" []	1138921	\N	\N	EFO	3	EFO	immature T cell	immature NK T cell stage II
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002040	"" []	2021986	\N	\N	EFO	4	EFO	T cell	immature NK T cell stage II
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002040	"" []	2021987	\N	\N	EFO	4	EFO	T cell	immature NK T cell stage II
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002040	"" []	2021988	\N	\N	EFO	4	EFO	T cell	immature NK T cell stage II
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002040	"" []	3176522	\N	\N	EFO	5	EFO	lymphocyte	immature NK T cell stage II
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002040	"" []	3176523	\N	\N	EFO	5	EFO	lymphocyte	immature NK T cell stage II
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002040	"" []	4387143	\N	\N	EFO	6	EFO	leukocyte	immature NK T cell stage II
CL:0002087	CL:0000542	\N	"" []	CL:0002040	"" []	4387144	\N	\N	EFO	6	EFO	nongranular leukocyte	immature NK T cell stage II
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002040	"" []	5408205	\N	\N	EFO	7	EFO	hematopoietic cell	immature NK T cell stage II
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002040	"" []	5408206	\N	\N	EFO	7	EFO	leukocyte	immature NK T cell stage II
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002040	"" []	6147163	\N	\N	EFO	8	EFO	cell type	immature NK T cell stage II
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002040	"" []	6147164	\N	\N	EFO	8	EFO	hematopoietic cell	immature NK T cell stage II
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002040	"" []	6631686	\N	\N	EFO	9	EFO	material entity	immature NK T cell stage II
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002040	"" []	6631687	\N	\N	EFO	9	EFO	somatic cell	immature NK T cell stage II
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002040	"" []	6925223	\N	\N	EFO	10	EFO	experimental factor	immature NK T cell stage II
CL:0002041	\N	\N	"" []	CL:0002041	"" []	63312	\N	\N	EFO	0	EFO	immature NK T cell stage III	immature NK T cell stage III
CL:0000914	CL:0002041	\N	"" []	CL:0002041	"" []	203246	\N	\N	EFO	1	EFO	immature NK T cell	immature NK T cell stage III
CL:0000914	CL:0002041	\N	"" []	CL:0002041	"" []	203247	\N	\N	EFO	1	EFO	immature NK T cell	immature NK T cell stage III
CL:0000790	CL:0000914	\N	"" []	CL:0002041	"" []	556237	\N	\N	EFO	2	EFO	immature alpha-beta T cell	immature NK T cell stage III
CL:0000790	CL:0000914	\N	"" []	CL:0002041	"" []	556238	\N	\N	EFO	2	EFO	immature alpha-beta T cell	immature NK T cell stage III
CL:0000789	CL:0000790	\N	"" []	CL:0002041	"" []	1138922	\N	\N	EFO	3	EFO	alpha-beta T cell	immature NK T cell stage III
CL:0000789	CL:0000790	\N	"" []	CL:0002041	"" []	1138923	\N	\N	EFO	3	EFO	alpha-beta T cell	immature NK T cell stage III
CL:0002420	CL:0000790	\N	"" []	CL:0002041	"" []	1138924	\N	\N	EFO	3	EFO	immature T cell	immature NK T cell stage III
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002041	"" []	2021989	\N	\N	EFO	4	EFO	T cell	immature NK T cell stage III
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002041	"" []	2021990	\N	\N	EFO	4	EFO	T cell	immature NK T cell stage III
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002041	"" []	2021991	\N	\N	EFO	4	EFO	T cell	immature NK T cell stage III
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002041	"" []	3176524	\N	\N	EFO	5	EFO	lymphocyte	immature NK T cell stage III
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002041	"" []	3176525	\N	\N	EFO	5	EFO	lymphocyte	immature NK T cell stage III
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002041	"" []	4387145	\N	\N	EFO	6	EFO	leukocyte	immature NK T cell stage III
CL:0002087	CL:0000542	\N	"" []	CL:0002041	"" []	4387146	\N	\N	EFO	6	EFO	nongranular leukocyte	immature NK T cell stage III
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002041	"" []	5408207	\N	\N	EFO	7	EFO	hematopoietic cell	immature NK T cell stage III
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002041	"" []	5408208	\N	\N	EFO	7	EFO	leukocyte	immature NK T cell stage III
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002041	"" []	6147165	\N	\N	EFO	8	EFO	cell type	immature NK T cell stage III
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002041	"" []	6147166	\N	\N	EFO	8	EFO	hematopoietic cell	immature NK T cell stage III
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002041	"" []	6631688	\N	\N	EFO	9	EFO	material entity	immature NK T cell stage III
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002041	"" []	6631689	\N	\N	EFO	9	EFO	somatic cell	immature NK T cell stage III
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002041	"" []	6925224	\N	\N	EFO	10	EFO	experimental factor	immature NK T cell stage III
CL:0002042	\N	\N	"" []	CL:0002042	"" []	63313	\N	\N	EFO	0	EFO	immature NK T cell stage IV	immature NK T cell stage IV
CL:0000914	CL:0002042	\N	"" []	CL:0002042	"" []	203248	\N	\N	EFO	1	EFO	immature NK T cell	immature NK T cell stage IV
CL:0000914	CL:0002042	\N	"" []	CL:0002042	"" []	203249	\N	\N	EFO	1	EFO	immature NK T cell	immature NK T cell stage IV
CL:0000790	CL:0000914	\N	"" []	CL:0002042	"" []	556239	\N	\N	EFO	2	EFO	immature alpha-beta T cell	immature NK T cell stage IV
CL:0000790	CL:0000914	\N	"" []	CL:0002042	"" []	556240	\N	\N	EFO	2	EFO	immature alpha-beta T cell	immature NK T cell stage IV
CL:0000789	CL:0000790	\N	"" []	CL:0002042	"" []	1138925	\N	\N	EFO	3	EFO	alpha-beta T cell	immature NK T cell stage IV
CL:0000789	CL:0000790	\N	"" []	CL:0002042	"" []	1138926	\N	\N	EFO	3	EFO	alpha-beta T cell	immature NK T cell stage IV
CL:0002420	CL:0000790	\N	"" []	CL:0002042	"" []	1138927	\N	\N	EFO	3	EFO	immature T cell	immature NK T cell stage IV
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002042	"" []	2021992	\N	\N	EFO	4	EFO	T cell	immature NK T cell stage IV
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002042	"" []	2021993	\N	\N	EFO	4	EFO	T cell	immature NK T cell stage IV
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002042	"" []	2021994	\N	\N	EFO	4	EFO	T cell	immature NK T cell stage IV
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002042	"" []	3176526	\N	\N	EFO	5	EFO	lymphocyte	immature NK T cell stage IV
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002042	"" []	3176527	\N	\N	EFO	5	EFO	lymphocyte	immature NK T cell stage IV
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002042	"" []	4387147	\N	\N	EFO	6	EFO	leukocyte	immature NK T cell stage IV
CL:0002087	CL:0000542	\N	"" []	CL:0002042	"" []	4387148	\N	\N	EFO	6	EFO	nongranular leukocyte	immature NK T cell stage IV
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002042	"" []	5408209	\N	\N	EFO	7	EFO	hematopoietic cell	immature NK T cell stage IV
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002042	"" []	5408210	\N	\N	EFO	7	EFO	leukocyte	immature NK T cell stage IV
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002042	"" []	6147167	\N	\N	EFO	8	EFO	cell type	immature NK T cell stage IV
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002042	"" []	6147168	\N	\N	EFO	8	EFO	hematopoietic cell	immature NK T cell stage IV
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002042	"" []	6631690	\N	\N	EFO	9	EFO	material entity	immature NK T cell stage IV
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002042	"" []	6631691	\N	\N	EFO	9	EFO	somatic cell	immature NK T cell stage IV
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002042	"" []	6925225	\N	\N	EFO	10	EFO	experimental factor	immature NK T cell stage IV
CL:0002043	\N	\N	"" []	CL:0002043	"" []	63314	\N	\N	EFO	0	EFO	CD34-positive, CD38-negative multipotent progenitor cell	CD34-positive, CD38-negative multipotent progenitor cell
CL:0000837	CL:0002043	\N	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	CL:0002043	"" []	203250	\N	\N	EFO	1	EFO	hematopoietic multipotent progenitor cell	CD34-positive, CD38-negative multipotent progenitor cell
CL:0000837	CL:0002043	\N	"A progenitor cell of any hematopoietic lineage, potentially multipotent." []	CL:0002043	"" []	203251	\N	\N	EFO	1	EFO	hematopoietic multipotent progenitor cell	CD34-positive, CD38-negative multipotent progenitor cell
CL:0000988	CL:0000837	\N	"A cell of a hematopoietic lineage." []	CL:0002043	"" []	556241	\N	\N	EFO	2	EFO	hematopoietic cell	CD34-positive, CD38-negative multipotent progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002043	"" []	1138928	\N	\N	EFO	3	EFO	cell type	CD34-positive, CD38-negative multipotent progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002043	"" []	2021995	\N	\N	EFO	4	EFO	material entity	CD34-positive, CD38-negative multipotent progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002043	"" []	3176528	\N	\N	EFO	5	EFO	experimental factor	CD34-positive, CD38-negative multipotent progenitor cell
CL:0002044	\N	\N	"" []	CL:0002044	"" []	63315	\N	\N	EFO	0	EFO	Kit-positive, integrin beta7-high basophil mast progenitor cell	Kit-positive, integrin beta7-high basophil mast progenitor cell
CL:0002028	CL:0002044	\N	"" []	CL:0002044	"" []	203252	\N	\N	EFO	1	EFO	basophil mast progenitor cell	Kit-positive, integrin beta7-high basophil mast progenitor cell
CL:0002028	CL:0002044	\N	"" []	CL:0002044	"" []	203253	\N	\N	EFO	1	EFO	basophil mast progenitor cell	Kit-positive, integrin beta7-high basophil mast progenitor cell
CL:0000839	CL:0002028	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002044	"" []	556242	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	Kit-positive, integrin beta7-high basophil mast progenitor cell
CL:0000763	CL:0002028	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002044	"" []	556243	\N	\N	EFO	2	EFO	myeloid cell	Kit-positive, integrin beta7-high basophil mast progenitor cell
CL:0002191	CL:0002028	\N	"" []	CL:0002044	"" []	556244	\N	\N	EFO	2	EFO	granulocytopoietic cell	Kit-positive, integrin beta7-high basophil mast progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002044	"" []	1138929	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Kit-positive, integrin beta7-high basophil mast progenitor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002044	"" []	1138930	\N	\N	EFO	3	EFO	hematopoietic cell	Kit-positive, integrin beta7-high basophil mast progenitor cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002044	"" []	1138931	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	Kit-positive, integrin beta7-high basophil mast progenitor cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002044	"" []	2021996	\N	\N	EFO	4	EFO	hematopoietic cell	Kit-positive, integrin beta7-high basophil mast progenitor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002044	"" []	2021997	\N	\N	EFO	4	EFO	somatic cell	Kit-positive, integrin beta7-high basophil mast progenitor cell
CL:0002031	CL:0000839	\N	"" []	CL:0002044	"" []	2021998	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	Kit-positive, integrin beta7-high basophil mast progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002044	"" []	3176529	\N	\N	EFO	5	EFO	cell type	Kit-positive, integrin beta7-high basophil mast progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002044	"" []	4387149	\N	\N	EFO	6	EFO	material entity	Kit-positive, integrin beta7-high basophil mast progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002044	"" []	5408211	\N	\N	EFO	7	EFO	experimental factor	Kit-positive, integrin beta7-high basophil mast progenitor cell
CL:0002045	\N	\N	"" []	CL:0002045	"" []	63316	\N	\N	EFO	0	EFO	Fraction A pre-pro B cell	Fraction A pre-pro B cell
CL:0000826	CL:0002045	\N	"" []	CL:0002045	"" []	203254	\N	\N	EFO	1	EFO	pro-B cell	Fraction A pre-pro B cell
CL:0000826	CL:0002045	\N	"" []	CL:0002045	"" []	203255	\N	\N	EFO	1	EFO	pro-B cell	Fraction A pre-pro B cell
CL:0000838	CL:0000826	\N	"" []	CL:0002045	"" []	556245	\N	\N	EFO	2	EFO	lymphoid lineage restricted progenitor cell	Fraction A pre-pro B cell
CL:0000838	CL:0000826	\N	"" []	CL:0002045	"" []	556246	\N	\N	EFO	2	EFO	lymphoid lineage restricted progenitor cell	Fraction A pre-pro B cell
CL:0002031	CL:0000838	\N	"" []	CL:0002045	"" []	1138932	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Fraction A pre-pro B cell
CL:0002031	CL:0000838	\N	"" []	CL:0002045	"" []	1138933	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Fraction A pre-pro B cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002045	"" []	2021999	\N	\N	EFO	4	EFO	hematopoietic cell	Fraction A pre-pro B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002045	"" []	3176530	\N	\N	EFO	5	EFO	cell type	Fraction A pre-pro B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002045	"" []	4387150	\N	\N	EFO	6	EFO	material entity	Fraction A pre-pro B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002045	"" []	5408212	\N	\N	EFO	7	EFO	experimental factor	Fraction A pre-pro B cell
CL:0002046	\N	\N	"" []	CL:0002046	"" []	63317	\N	\N	EFO	0	EFO	Early pro-B cell	Early pro-B cell
CL:0000826	CL:0002046	\N	"" []	CL:0002046	"" []	203256	\N	\N	EFO	1	EFO	pro-B cell	Early pro-B cell
CL:0000826	CL:0002046	\N	"" []	CL:0002046	"" []	203257	\N	\N	EFO	1	EFO	pro-B cell	Early pro-B cell
CL:0000838	CL:0000826	\N	"" []	CL:0002046	"" []	556247	\N	\N	EFO	2	EFO	lymphoid lineage restricted progenitor cell	Early pro-B cell
CL:0000838	CL:0000826	\N	"" []	CL:0002046	"" []	556248	\N	\N	EFO	2	EFO	lymphoid lineage restricted progenitor cell	Early pro-B cell
CL:0002031	CL:0000838	\N	"" []	CL:0002046	"" []	1138934	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Early pro-B cell
CL:0002031	CL:0000838	\N	"" []	CL:0002046	"" []	1138935	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Early pro-B cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002046	"" []	2022000	\N	\N	EFO	4	EFO	hematopoietic cell	Early pro-B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002046	"" []	3176531	\N	\N	EFO	5	EFO	cell type	Early pro-B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002046	"" []	4387151	\N	\N	EFO	6	EFO	material entity	Early pro-B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002046	"" []	5408213	\N	\N	EFO	7	EFO	experimental factor	Early pro-B cell
CL:0002047	\N	\N	"" []	CL:0002047	"" []	63318	\N	\N	EFO	0	EFO	Fraction B precursor B cell	Fraction B precursor B cell
CL:0002400	CL:0002047	\N	"" []	CL:0002047	"" []	203258	\N	\N	EFO	1	EFO	Fraction B/C precursor B cell	Fraction B precursor B cell
CL:0002400	CL:0002047	\N	"" []	CL:0002047	"" []	203259	\N	\N	EFO	1	EFO	Fraction B/C precursor B cell	Fraction B precursor B cell
CL:0000817	CL:0002400	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002047	"" []	556249	\N	\N	EFO	2	EFO	precursor B cell	Fraction B precursor B cell
CL:0000817	CL:0002400	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002047	"" []	556250	\N	\N	EFO	2	EFO	precursor B cell	Fraction B precursor B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002047	"" []	1138936	\N	\N	EFO	3	EFO	B cell	Fraction B precursor B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002047	"" []	1138937	\N	\N	EFO	3	EFO	B cell	Fraction B precursor B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002047	"" []	2022001	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Fraction B precursor B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002047	"" []	2022002	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Fraction B precursor B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002047	"" []	3176532	\N	\N	EFO	5	EFO	lymphocyte	Fraction B precursor B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002047	"" []	3176533	\N	\N	EFO	5	EFO	lymphocyte	Fraction B precursor B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002047	"" []	4387152	\N	\N	EFO	6	EFO	leukocyte	Fraction B precursor B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002047	"" []	4387153	\N	\N	EFO	6	EFO	nongranular leukocyte	Fraction B precursor B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002047	"" []	5408214	\N	\N	EFO	7	EFO	hematopoietic cell	Fraction B precursor B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002047	"" []	5408215	\N	\N	EFO	7	EFO	leukocyte	Fraction B precursor B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002047	"" []	6147169	\N	\N	EFO	8	EFO	cell type	Fraction B precursor B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002047	"" []	6147170	\N	\N	EFO	8	EFO	hematopoietic cell	Fraction B precursor B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002047	"" []	6631692	\N	\N	EFO	9	EFO	material entity	Fraction B precursor B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002047	"" []	6631693	\N	\N	EFO	9	EFO	somatic cell	Fraction B precursor B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002047	"" []	6925226	\N	\N	EFO	10	EFO	experimental factor	Fraction B precursor B cell
CL:0002048	\N	\N	"" []	CL:0002048	"" []	63319	\N	\N	EFO	0	EFO	late pro-B cell	late pro-B cell
CL:0000817	CL:0002048	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002048	"" []	203260	\N	\N	EFO	1	EFO	precursor B cell	late pro-B cell
CL:0000817	CL:0002048	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002048	"" []	203261	\N	\N	EFO	1	EFO	precursor B cell	late pro-B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002048	"" []	556251	\N	\N	EFO	2	EFO	B cell	late pro-B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002048	"" []	556252	\N	\N	EFO	2	EFO	B cell	late pro-B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002048	"" []	1138938	\N	\N	EFO	3	EFO	lymphocyte of B lineage	late pro-B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002048	"" []	1138939	\N	\N	EFO	3	EFO	lymphocyte of B lineage	late pro-B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002048	"" []	2022003	\N	\N	EFO	4	EFO	lymphocyte	late pro-B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002048	"" []	2022004	\N	\N	EFO	4	EFO	lymphocyte	late pro-B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002048	"" []	3176534	\N	\N	EFO	5	EFO	leukocyte	late pro-B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002048	"" []	3176535	\N	\N	EFO	5	EFO	nongranular leukocyte	late pro-B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002048	"" []	4387154	\N	\N	EFO	6	EFO	hematopoietic cell	late pro-B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002048	"" []	4387155	\N	\N	EFO	6	EFO	leukocyte	late pro-B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002048	"" []	5408216	\N	\N	EFO	7	EFO	cell type	late pro-B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002048	"" []	5408217	\N	\N	EFO	7	EFO	hematopoietic cell	late pro-B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002048	"" []	6147171	\N	\N	EFO	8	EFO	material entity	late pro-B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002048	"" []	6147172	\N	\N	EFO	8	EFO	somatic cell	late pro-B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002048	"" []	6631694	\N	\N	EFO	9	EFO	experimental factor	late pro-B cell
CL:0002049	\N	\N	"" []	CL:0002049	"" []	63320	\N	\N	EFO	0	EFO	Fraction C precursor B cell	Fraction C precursor B cell
CL:0002400	CL:0002049	\N	"" []	CL:0002049	"" []	203262	\N	\N	EFO	1	EFO	Fraction B/C precursor B cell	Fraction C precursor B cell
CL:0002400	CL:0002049	\N	"" []	CL:0002049	"" []	203263	\N	\N	EFO	1	EFO	Fraction B/C precursor B cell	Fraction C precursor B cell
CL:0000817	CL:0002400	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002049	"" []	556253	\N	\N	EFO	2	EFO	precursor B cell	Fraction C precursor B cell
CL:0000817	CL:0002400	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002049	"" []	556254	\N	\N	EFO	2	EFO	precursor B cell	Fraction C precursor B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002049	"" []	1138940	\N	\N	EFO	3	EFO	B cell	Fraction C precursor B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002049	"" []	1138941	\N	\N	EFO	3	EFO	B cell	Fraction C precursor B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002049	"" []	2022005	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Fraction C precursor B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002049	"" []	2022006	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Fraction C precursor B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002049	"" []	3176536	\N	\N	EFO	5	EFO	lymphocyte	Fraction C precursor B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002049	"" []	3176537	\N	\N	EFO	5	EFO	lymphocyte	Fraction C precursor B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002049	"" []	4387156	\N	\N	EFO	6	EFO	leukocyte	Fraction C precursor B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002049	"" []	4387157	\N	\N	EFO	6	EFO	nongranular leukocyte	Fraction C precursor B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002049	"" []	5408218	\N	\N	EFO	7	EFO	hematopoietic cell	Fraction C precursor B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002049	"" []	5408219	\N	\N	EFO	7	EFO	leukocyte	Fraction C precursor B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002049	"" []	6147173	\N	\N	EFO	8	EFO	cell type	Fraction C precursor B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002049	"" []	6147174	\N	\N	EFO	8	EFO	hematopoietic cell	Fraction C precursor B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002049	"" []	6631695	\N	\N	EFO	9	EFO	material entity	Fraction C precursor B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002049	"" []	6631696	\N	\N	EFO	9	EFO	somatic cell	Fraction C precursor B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002049	"" []	6925227	\N	\N	EFO	10	EFO	experimental factor	Fraction C precursor B cell
CL:0002050	\N	\N	"" []	CL:0002050	"" []	63321	\N	\N	EFO	0	EFO	Fraction C' precursor B cell	Fraction C' precursor B cell
CL:0000817	CL:0002050	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002050	"" []	203264	\N	\N	EFO	1	EFO	precursor B cell	Fraction C' precursor B cell
CL:0000817	CL:0002050	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002050	"" []	203265	\N	\N	EFO	1	EFO	precursor B cell	Fraction C' precursor B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002050	"" []	556255	\N	\N	EFO	2	EFO	B cell	Fraction C' precursor B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002050	"" []	556256	\N	\N	EFO	2	EFO	B cell	Fraction C' precursor B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002050	"" []	1138942	\N	\N	EFO	3	EFO	lymphocyte of B lineage	Fraction C' precursor B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002050	"" []	1138943	\N	\N	EFO	3	EFO	lymphocyte of B lineage	Fraction C' precursor B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002050	"" []	2022007	\N	\N	EFO	4	EFO	lymphocyte	Fraction C' precursor B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002050	"" []	2022008	\N	\N	EFO	4	EFO	lymphocyte	Fraction C' precursor B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002050	"" []	3176538	\N	\N	EFO	5	EFO	leukocyte	Fraction C' precursor B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002050	"" []	3176539	\N	\N	EFO	5	EFO	nongranular leukocyte	Fraction C' precursor B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002050	"" []	4387158	\N	\N	EFO	6	EFO	hematopoietic cell	Fraction C' precursor B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002050	"" []	4387159	\N	\N	EFO	6	EFO	leukocyte	Fraction C' precursor B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002050	"" []	5408220	\N	\N	EFO	7	EFO	cell type	Fraction C' precursor B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002050	"" []	5408221	\N	\N	EFO	7	EFO	hematopoietic cell	Fraction C' precursor B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002050	"" []	6147175	\N	\N	EFO	8	EFO	material entity	Fraction C' precursor B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002050	"" []	6147176	\N	\N	EFO	8	EFO	somatic cell	Fraction C' precursor B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002050	"" []	6631697	\N	\N	EFO	9	EFO	experimental factor	Fraction C' precursor B cell
CL:0002051	\N	\N	"" []	CL:0002051	"" []	63322	\N	\N	EFO	0	EFO	CD38-high pre-BCR positive cell	CD38-high pre-BCR positive cell
CL:0000952	CL:0002051	\N	"" []	CL:0002051	"" []	203266	\N	\N	EFO	1	EFO	preBCR-positive large pre-B-II cell	CD38-high pre-BCR positive cell
CL:0000952	CL:0002051	\N	"" []	CL:0002051	"" []	203267	\N	\N	EFO	1	EFO	preBCR-positive large pre-B-II cell	CD38-high pre-BCR positive cell
CL:0000957	CL:0000952	\N	"" []	CL:0002051	"" []	556257	\N	\N	EFO	2	EFO	large pre-B-II cell	CD38-high pre-BCR positive cell
CL:0000957	CL:0000952	\N	"" []	CL:0002051	"" []	556258	\N	\N	EFO	2	EFO	large pre-B-II cell	CD38-high pre-BCR positive cell
CL:0000955	CL:0000957	\N	"" []	CL:0002051	"" []	1138944	\N	\N	EFO	3	EFO	pre-B-II cell	CD38-high pre-BCR positive cell
CL:0000955	CL:0000957	\N	"" []	CL:0002051	"" []	1138945	\N	\N	EFO	3	EFO	pre-B-II cell	CD38-high pre-BCR positive cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002051	"" []	2022009	\N	\N	EFO	4	EFO	precursor B cell	CD38-high pre-BCR positive cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002051	"" []	2022010	\N	\N	EFO	4	EFO	precursor B cell	CD38-high pre-BCR positive cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002051	"" []	3176540	\N	\N	EFO	5	EFO	B cell	CD38-high pre-BCR positive cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002051	"" []	3176541	\N	\N	EFO	5	EFO	B cell	CD38-high pre-BCR positive cell
CL:0000945	CL:0000236	\N	"" []	CL:0002051	"" []	4387160	\N	\N	EFO	6	EFO	lymphocyte of B lineage	CD38-high pre-BCR positive cell
CL:0000945	CL:0000236	\N	"" []	CL:0002051	"" []	4387161	\N	\N	EFO	6	EFO	lymphocyte of B lineage	CD38-high pre-BCR positive cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002051	"" []	5408222	\N	\N	EFO	7	EFO	lymphocyte	CD38-high pre-BCR positive cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002051	"" []	5408223	\N	\N	EFO	7	EFO	lymphocyte	CD38-high pre-BCR positive cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002051	"" []	6147177	\N	\N	EFO	8	EFO	leukocyte	CD38-high pre-BCR positive cell
CL:0002087	CL:0000542	\N	"" []	CL:0002051	"" []	6147178	\N	\N	EFO	8	EFO	nongranular leukocyte	CD38-high pre-BCR positive cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002051	"" []	6631698	\N	\N	EFO	9	EFO	hematopoietic cell	CD38-high pre-BCR positive cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002051	"" []	6631699	\N	\N	EFO	9	EFO	leukocyte	CD38-high pre-BCR positive cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002051	"" []	6925228	\N	\N	EFO	10	EFO	cell type	CD38-high pre-BCR positive cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002051	"" []	6925229	\N	\N	EFO	10	EFO	hematopoietic cell	CD38-high pre-BCR positive cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002051	"" []	7098947	\N	\N	EFO	11	EFO	material entity	CD38-high pre-BCR positive cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002051	"" []	7098948	\N	\N	EFO	11	EFO	somatic cell	CD38-high pre-BCR positive cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002051	"" []	7208266	\N	\N	EFO	12	EFO	experimental factor	CD38-high pre-BCR positive cell
CL:0002052	\N	\N	"" []	CL:0002052	"" []	63323	\N	\N	EFO	0	EFO	Fraction D precursor B cell	Fraction D precursor B cell
CL:0000817	CL:0002052	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002052	"" []	203268	\N	\N	EFO	1	EFO	precursor B cell	Fraction D precursor B cell
CL:0002400	CL:0002052	\N	"" []	CL:0002052	"" []	203269	\N	\N	EFO	1	EFO	Fraction B/C precursor B cell	Fraction D precursor B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002052	"" []	556259	\N	\N	EFO	2	EFO	B cell	Fraction D precursor B cell
CL:0000817	CL:0002400	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002052	"" []	556260	\N	\N	EFO	2	EFO	precursor B cell	Fraction D precursor B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002052	"" []	1138946	\N	\N	EFO	3	EFO	lymphocyte of B lineage	Fraction D precursor B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002052	"" []	1138947	\N	\N	EFO	3	EFO	B cell	Fraction D precursor B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002052	"" []	2022011	\N	\N	EFO	4	EFO	lymphocyte	Fraction D precursor B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002052	"" []	2022012	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Fraction D precursor B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002052	"" []	3176542	\N	\N	EFO	5	EFO	leukocyte	Fraction D precursor B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002052	"" []	3176543	\N	\N	EFO	5	EFO	lymphocyte	Fraction D precursor B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002052	"" []	4387162	\N	\N	EFO	6	EFO	hematopoietic cell	Fraction D precursor B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002052	"" []	4387163	\N	\N	EFO	6	EFO	nongranular leukocyte	Fraction D precursor B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002052	"" []	5408224	\N	\N	EFO	7	EFO	cell type	Fraction D precursor B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002052	"" []	5408225	\N	\N	EFO	7	EFO	leukocyte	Fraction D precursor B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002052	"" []	6147179	\N	\N	EFO	8	EFO	material entity	Fraction D precursor B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002052	"" []	6147180	\N	\N	EFO	8	EFO	hematopoietic cell	Fraction D precursor B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002052	"" []	6631700	\N	\N	EFO	9	EFO	experimental factor	Fraction D precursor B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002052	"" []	6631701	\N	\N	EFO	9	EFO	somatic cell	Fraction D precursor B cell
CL:0002053	\N	\N	"" []	CL:0002053	"" []	63324	\N	\N	EFO	0	EFO	CD22-positive, CD38-low small pre-B cell	CD22-positive, CD38-low small pre-B cell
CL:0000954	CL:0002053	\N	"" []	CL:0002053	"" []	203270	\N	\N	EFO	1	EFO	small pre-B-II cell	CD22-positive, CD38-low small pre-B cell
CL:0000954	CL:0002053	\N	"" []	CL:0002053	"" []	203271	\N	\N	EFO	1	EFO	small pre-B-II cell	CD22-positive, CD38-low small pre-B cell
CL:0000955	CL:0000954	\N	"" []	CL:0002053	"" []	556261	\N	\N	EFO	2	EFO	pre-B-II cell	CD22-positive, CD38-low small pre-B cell
CL:0000955	CL:0000954	\N	"" []	CL:0002053	"" []	556262	\N	\N	EFO	2	EFO	pre-B-II cell	CD22-positive, CD38-low small pre-B cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002053	"" []	1138948	\N	\N	EFO	3	EFO	precursor B cell	CD22-positive, CD38-low small pre-B cell
CL:0000817	CL:0000955	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002053	"" []	1138949	\N	\N	EFO	3	EFO	precursor B cell	CD22-positive, CD38-low small pre-B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002053	"" []	2022013	\N	\N	EFO	4	EFO	B cell	CD22-positive, CD38-low small pre-B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002053	"" []	2022014	\N	\N	EFO	4	EFO	B cell	CD22-positive, CD38-low small pre-B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002053	"" []	3176544	\N	\N	EFO	5	EFO	lymphocyte of B lineage	CD22-positive, CD38-low small pre-B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002053	"" []	3176545	\N	\N	EFO	5	EFO	lymphocyte of B lineage	CD22-positive, CD38-low small pre-B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002053	"" []	4387164	\N	\N	EFO	6	EFO	lymphocyte	CD22-positive, CD38-low small pre-B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002053	"" []	4387165	\N	\N	EFO	6	EFO	lymphocyte	CD22-positive, CD38-low small pre-B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002053	"" []	5408226	\N	\N	EFO	7	EFO	leukocyte	CD22-positive, CD38-low small pre-B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002053	"" []	5408227	\N	\N	EFO	7	EFO	nongranular leukocyte	CD22-positive, CD38-low small pre-B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002053	"" []	6147181	\N	\N	EFO	8	EFO	hematopoietic cell	CD22-positive, CD38-low small pre-B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002053	"" []	6147182	\N	\N	EFO	8	EFO	leukocyte	CD22-positive, CD38-low small pre-B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002053	"" []	6631702	\N	\N	EFO	9	EFO	cell type	CD22-positive, CD38-low small pre-B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002053	"" []	6631703	\N	\N	EFO	9	EFO	hematopoietic cell	CD22-positive, CD38-low small pre-B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002053	"" []	6925230	\N	\N	EFO	10	EFO	material entity	CD22-positive, CD38-low small pre-B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002053	"" []	6925231	\N	\N	EFO	10	EFO	somatic cell	CD22-positive, CD38-low small pre-B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002053	"" []	7098949	\N	\N	EFO	11	EFO	experimental factor	CD22-positive, CD38-low small pre-B cell
CL:0002054	\N	\N	"" []	CL:0002054	"" []	63325	\N	\N	EFO	0	EFO	Fraction E immature B cell	Fraction E immature B cell
CL:0000816	CL:0002054	\N	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	CL:0002054	"" []	203272	\N	\N	EFO	1	EFO	immature B cell	Fraction E immature B cell
CL:0000816	CL:0002054	\N	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	CL:0002054	"" []	203273	\N	\N	EFO	1	EFO	immature B cell	Fraction E immature B cell
CL:0000817	CL:0000816	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002054	"" []	556263	\N	\N	EFO	2	EFO	precursor B cell	Fraction E immature B cell
CL:0000236	CL:0000816	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002054	"" []	556264	\N	\N	EFO	2	EFO	B cell	Fraction E immature B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002054	"" []	1138950	\N	\N	EFO	3	EFO	B cell	Fraction E immature B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002054	"" []	1138951	\N	\N	EFO	3	EFO	lymphocyte of B lineage	Fraction E immature B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002054	"" []	2022015	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Fraction E immature B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002054	"" []	2022016	\N	\N	EFO	4	EFO	lymphocyte	Fraction E immature B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002054	"" []	3176546	\N	\N	EFO	5	EFO	lymphocyte	Fraction E immature B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002054	"" []	3176547	\N	\N	EFO	5	EFO	nongranular leukocyte	Fraction E immature B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002054	"" []	4387166	\N	\N	EFO	6	EFO	leukocyte	Fraction E immature B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002054	"" []	4387167	\N	\N	EFO	6	EFO	leukocyte	Fraction E immature B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002054	"" []	5408228	\N	\N	EFO	7	EFO	hematopoietic cell	Fraction E immature B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002054	"" []	5408229	\N	\N	EFO	7	EFO	hematopoietic cell	Fraction E immature B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002054	"" []	6147183	\N	\N	EFO	8	EFO	cell type	Fraction E immature B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002054	"" []	6147184	\N	\N	EFO	8	EFO	somatic cell	Fraction E immature B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002054	"" []	6631704	\N	\N	EFO	9	EFO	material entity	Fraction E immature B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002054	"" []	6925232	\N	\N	EFO	10	EFO	experimental factor	Fraction E immature B cell
CL:0002055	\N	\N	"" []	CL:0002055	"" []	63326	\N	\N	EFO	0	EFO	CD38-negative immature B cell	CD38-negative immature B cell
CL:0000816	CL:0002055	\N	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	CL:0002055	"" []	203274	\N	\N	EFO	1	EFO	immature B cell	CD38-negative immature B cell
CL:0000816	CL:0002055	\N	"An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." []	CL:0002055	"" []	203275	\N	\N	EFO	1	EFO	immature B cell	CD38-negative immature B cell
CL:0000817	CL:0000816	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002055	"" []	556265	\N	\N	EFO	2	EFO	precursor B cell	CD38-negative immature B cell
CL:0000236	CL:0000816	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002055	"" []	556266	\N	\N	EFO	2	EFO	B cell	CD38-negative immature B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002055	"" []	1138952	\N	\N	EFO	3	EFO	B cell	CD38-negative immature B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002055	"" []	1138953	\N	\N	EFO	3	EFO	lymphocyte of B lineage	CD38-negative immature B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002055	"" []	2022017	\N	\N	EFO	4	EFO	lymphocyte of B lineage	CD38-negative immature B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002055	"" []	2022018	\N	\N	EFO	4	EFO	lymphocyte	CD38-negative immature B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002055	"" []	3176548	\N	\N	EFO	5	EFO	lymphocyte	CD38-negative immature B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002055	"" []	3176549	\N	\N	EFO	5	EFO	nongranular leukocyte	CD38-negative immature B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002055	"" []	4387168	\N	\N	EFO	6	EFO	leukocyte	CD38-negative immature B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002055	"" []	4387169	\N	\N	EFO	6	EFO	leukocyte	CD38-negative immature B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002055	"" []	5408230	\N	\N	EFO	7	EFO	hematopoietic cell	CD38-negative immature B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002055	"" []	5408231	\N	\N	EFO	7	EFO	hematopoietic cell	CD38-negative immature B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002055	"" []	6147185	\N	\N	EFO	8	EFO	cell type	CD38-negative immature B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002055	"" []	6147186	\N	\N	EFO	8	EFO	somatic cell	CD38-negative immature B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002055	"" []	6631705	\N	\N	EFO	9	EFO	material entity	CD38-negative immature B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002055	"" []	6925233	\N	\N	EFO	10	EFO	experimental factor	CD38-negative immature B cell
CL:0002056	\N	\N	"" []	CL:0002056	"" []	63327	\N	\N	EFO	0	EFO	Fraction F mature B cell	Fraction F mature B cell
CL:0000785	CL:0002056	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002056	"" []	203276	\N	\N	EFO	1	EFO	mature B cell	Fraction F mature B cell
CL:0000822	CL:0002056	\N	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	CL:0002056	"" []	203277	\N	\N	EFO	1	EFO	B-2 B cell	Fraction F mature B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002056	"" []	556267	\N	\N	EFO	2	EFO	B cell	Fraction F mature B cell
CL:0000785	CL:0000822	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002056	"" []	556268	\N	\N	EFO	2	EFO	mature B cell	Fraction F mature B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002056	"" []	1138954	\N	\N	EFO	3	EFO	lymphocyte of B lineage	Fraction F mature B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002056	"" []	1138955	\N	\N	EFO	3	EFO	B cell	Fraction F mature B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002056	"" []	2022019	\N	\N	EFO	4	EFO	lymphocyte	Fraction F mature B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002056	"" []	2022020	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Fraction F mature B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002056	"" []	3176550	\N	\N	EFO	5	EFO	leukocyte	Fraction F mature B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002056	"" []	3176551	\N	\N	EFO	5	EFO	lymphocyte	Fraction F mature B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002056	"" []	4387170	\N	\N	EFO	6	EFO	hematopoietic cell	Fraction F mature B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002056	"" []	4387171	\N	\N	EFO	6	EFO	nongranular leukocyte	Fraction F mature B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002056	"" []	5408232	\N	\N	EFO	7	EFO	cell type	Fraction F mature B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002056	"" []	5408233	\N	\N	EFO	7	EFO	leukocyte	Fraction F mature B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002056	"" []	6147187	\N	\N	EFO	8	EFO	material entity	Fraction F mature B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002056	"" []	6147188	\N	\N	EFO	8	EFO	hematopoietic cell	Fraction F mature B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002056	"" []	6631706	\N	\N	EFO	9	EFO	experimental factor	Fraction F mature B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002056	"" []	6631707	\N	\N	EFO	9	EFO	somatic cell	Fraction F mature B cell
CL:0002057	\N	\N	"" []	CL:0002057	"" []	63328	\N	\N	EFO	0	EFO	CD14-positive, CD16-negative classical monocyte	CD14-positive, CD16-negative classical monocyte
CL:0001054	\N	\N	"A monocyte that expresses CD14 and is negative for the lineage markers CD3, CD19, and CD20." [GOC:add, PMID:22343568]	CL:0002057	"" []	194228	\N	\N	EFO	0	EFO	CD14-positive monocyte	CD14-positive, CD16-negative classical monocyte
CL:0000860	CL:0002057	\N	"" []	CL:0002057	"" []	203278	\N	\N	EFO	1	EFO	classical monocyte	CD14-positive, CD16-negative classical monocyte
CL:0000860	CL:0002057	\N	"" []	CL:0002057	"" []	203279	\N	\N	EFO	1	EFO	classical monocyte	CD14-positive, CD16-negative classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002057	"" []	556269	\N	\N	EFO	2	EFO	monocyte	CD14-positive, CD16-negative classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002057	"" []	556270	\N	\N	EFO	2	EFO	monocyte	CD14-positive, CD16-negative classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002057	"" []	1138956	\N	\N	EFO	3	EFO	myeloid leukocyte	CD14-positive, CD16-negative classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002057	"" []	1138957	\N	\N	EFO	3	EFO	myeloid leukocyte	CD14-positive, CD16-negative classical monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002057	"" []	1138958	\N	\N	EFO	3	EFO	mononuclear cell	CD14-positive, CD16-negative classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002057	"" []	2022021	\N	\N	EFO	4	EFO	leukocyte	CD14-positive, CD16-negative classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002057	"" []	2022022	\N	\N	EFO	4	EFO	leukocyte	CD14-positive, CD16-negative classical monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002057	"" []	2022023	\N	\N	EFO	4	EFO	myeloid cell	CD14-positive, CD16-negative classical monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002057	"" []	2022024	\N	\N	EFO	4	EFO	nongranular leukocyte	CD14-positive, CD16-negative classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002057	"" []	3176552	\N	\N	EFO	5	EFO	hematopoietic cell	CD14-positive, CD16-negative classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002057	"" []	4387174	\N	\N	EFO	6	EFO	hematopoietic cell	CD14-positive, CD16-negative classical monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002057	"" []	3176554	\N	\N	EFO	5	EFO	hematopoietic cell	CD14-positive, CD16-negative classical monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002057	"" []	3176555	\N	\N	EFO	5	EFO	leukocyte	CD14-positive, CD16-negative classical monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002057	"" []	4387172	\N	\N	EFO	6	EFO	cell type	CD14-positive, CD16-negative classical monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002057	"" []	5180830	\N	\N	EFO	7	EFO	somatic cell	CD14-positive, CD16-negative classical monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002057	"" []	5408234	\N	\N	EFO	7	EFO	material entity	CD14-positive, CD16-negative classical monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002057	"" []	6147189	\N	\N	EFO	8	EFO	experimental factor	CD14-positive, CD16-negative classical monocyte
CL:0002058	\N	\N	"" []	CL:0002058	"" []	63329	\N	\N	EFO	0	EFO	Gr1-low non-classical monocyte	Gr1-low non-classical monocyte
CL:0000875	CL:0002058	\N	"" []	CL:0002058	"" []	203280	\N	\N	EFO	1	EFO	non-classical monocyte	Gr1-low non-classical monocyte
CL:0000875	CL:0002058	\N	"" []	CL:0002058	"" []	203281	\N	\N	EFO	1	EFO	non-classical monocyte	Gr1-low non-classical monocyte
CL:0002398	CL:0002058	\N	"" []	CL:0002058	"" []	203282	\N	\N	EFO	1	EFO	Gr1-positive, CD43-positive monocyte	Gr1-low non-classical monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002058	"" []	556271	\N	\N	EFO	2	EFO	monocyte	Gr1-low non-classical monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002058	"" []	556272	\N	\N	EFO	2	EFO	monocyte	Gr1-low non-classical monocyte
CL:0001022	CL:0002398	\N	"" []	CL:0002058	"" []	556273	\N	\N	EFO	2	EFO	CD115-positive monocyte	Gr1-low non-classical monocyte
CL:0002393	CL:0002398	\N	"" []	CL:0002058	"" []	556274	\N	\N	EFO	2	EFO	intermediate monocyte	Gr1-low non-classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002058	"" []	1138959	\N	\N	EFO	3	EFO	myeloid leukocyte	Gr1-low non-classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002058	"" []	2022029	\N	\N	EFO	4	EFO	myeloid leukocyte	Gr1-low non-classical monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002058	"" []	2022030	\N	\N	EFO	4	EFO	mononuclear cell	Gr1-low non-classical monocyte
CL:0000576	CL:0001022	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002058	"" []	1138962	\N	\N	EFO	3	EFO	monocyte	Gr1-low non-classical monocyte
CL:0000839	CL:0001022	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002058	"" []	1138963	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	Gr1-low non-classical monocyte
CL:0001019	CL:0001022	\N	"" []	CL:0002058	"" []	1138964	\N	\N	EFO	3	EFO	CD115-positive monocyte OR common dendritic progenitor	Gr1-low non-classical monocyte
CL:0000576	CL:0002393	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002058	"" []	1138965	\N	\N	EFO	3	EFO	monocyte	Gr1-low non-classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002058	"" []	2022025	\N	\N	EFO	4	EFO	leukocyte	Gr1-low non-classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002058	"" []	2999204	\N	\N	EFO	5	EFO	leukocyte	Gr1-low non-classical monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002058	"" []	2999205	\N	\N	EFO	5	EFO	myeloid cell	Gr1-low non-classical monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002058	"" []	2999206	\N	\N	EFO	5	EFO	nongranular leukocyte	Gr1-low non-classical monocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002058	"" []	2022031	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	Gr1-low non-classical monocyte
CL:0002031	CL:0001019	\N	"" []	CL:0002058	"" []	2022032	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	Gr1-low non-classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002058	"" []	3176556	\N	\N	EFO	5	EFO	hematopoietic cell	Gr1-low non-classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002058	"" []	5180832	\N	\N	EFO	7	EFO	hematopoietic cell	Gr1-low non-classical monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002058	"" []	4132467	\N	\N	EFO	6	EFO	hematopoietic cell	Gr1-low non-classical monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002058	"" []	4132468	\N	\N	EFO	6	EFO	leukocyte	Gr1-low non-classical monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002058	"" []	4387175	\N	\N	EFO	6	EFO	cell type	Gr1-low non-classical monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002058	"" []	5876492	\N	\N	EFO	8	EFO	somatic cell	Gr1-low non-classical monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002058	"" []	5408235	\N	\N	EFO	7	EFO	material entity	Gr1-low non-classical monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002058	"" []	6147190	\N	\N	EFO	8	EFO	experimental factor	Gr1-low non-classical monocyte
CL:0002059	\N	\N	"" []	CL:0002059	"" []	63330	\N	\N	EFO	0	EFO	CD8alpha-positive thymic conventional dendritic cell	CD8alpha-positive thymic conventional dendritic cell
CL:0000941	CL:0002059	\N	"" []	CL:0002059	"" []	203283	\N	\N	EFO	1	EFO	thymic conventional dendritic cell	CD8alpha-positive thymic conventional dendritic cell
CL:0000941	CL:0002059	\N	"" []	CL:0002059	"" []	203284	\N	\N	EFO	1	EFO	thymic conventional dendritic cell	CD8alpha-positive thymic conventional dendritic cell
CL:0000990	CL:0000941	\N	"" []	CL:0002059	"" []	556275	\N	\N	EFO	2	EFO	conventional dendritic cell	CD8alpha-positive thymic conventional dendritic cell
CL:0000990	CL:0000941	\N	"" []	CL:0002059	"" []	556276	\N	\N	EFO	2	EFO	conventional dendritic cell	CD8alpha-positive thymic conventional dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002059	"" []	1138966	\N	\N	EFO	3	EFO	dendritic cell	CD8alpha-positive thymic conventional dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002059	"" []	1138967	\N	\N	EFO	3	EFO	dendritic cell	CD8alpha-positive thymic conventional dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002059	"" []	2022033	\N	\N	EFO	4	EFO	leukocyte	CD8alpha-positive thymic conventional dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002059	"" []	2022034	\N	\N	EFO	4	EFO	leukocyte	CD8alpha-positive thymic conventional dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002059	"" []	3176560	\N	\N	EFO	5	EFO	hematopoietic cell	CD8alpha-positive thymic conventional dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002059	"" []	3176561	\N	\N	EFO	5	EFO	hematopoietic cell	CD8alpha-positive thymic conventional dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002059	"" []	4387177	\N	\N	EFO	6	EFO	cell type	CD8alpha-positive thymic conventional dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002059	"" []	4387178	\N	\N	EFO	6	EFO	somatic cell	CD8alpha-positive thymic conventional dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002059	"" []	5408236	\N	\N	EFO	7	EFO	material entity	CD8alpha-positive thymic conventional dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002059	"" []	6147191	\N	\N	EFO	8	EFO	experimental factor	CD8alpha-positive thymic conventional dendritic cell
CL:0002060	\N	\N	"" []	CL:0002060	"" []	63331	\N	\N	EFO	0	EFO	melanophage	melanophage
CL:0000864	CL:0002060	\N	"" []	CL:0002060	"" []	203285	\N	\N	EFO	1	EFO	tissue-resident macrophage	melanophage
CL:0000864	CL:0002060	\N	"" []	CL:0002060	"" []	203286	\N	\N	EFO	1	EFO	tissue-resident macrophage	melanophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002060	"" []	556277	\N	\N	EFO	2	EFO	macrophage	melanophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002060	"" []	556278	\N	\N	EFO	2	EFO	macrophage	melanophage
CL:0000766	CL:0000235	\N	"" []	CL:0002060	"" []	1138968	\N	\N	EFO	3	EFO	myeloid leukocyte	melanophage
CL:0000766	CL:0000235	\N	"" []	CL:0002060	"" []	1138969	\N	\N	EFO	3	EFO	myeloid leukocyte	melanophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002060	"" []	2022035	\N	\N	EFO	4	EFO	leukocyte	melanophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002060	"" []	2022036	\N	\N	EFO	4	EFO	leukocyte	melanophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002060	"" []	2022037	\N	\N	EFO	4	EFO	myeloid cell	melanophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002060	"" []	3176562	\N	\N	EFO	5	EFO	hematopoietic cell	melanophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002060	"" []	3176563	\N	\N	EFO	5	EFO	hematopoietic cell	melanophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002060	"" []	3176564	\N	\N	EFO	5	EFO	hematopoietic cell	melanophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002060	"" []	4387179	\N	\N	EFO	6	EFO	cell type	melanophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002060	"" []	4387180	\N	\N	EFO	6	EFO	somatic cell	melanophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002060	"" []	5408237	\N	\N	EFO	7	EFO	material entity	melanophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002060	"" []	6147192	\N	\N	EFO	8	EFO	experimental factor	melanophage
CL:0002061	\N	\N	"" []	CL:0002061	"" []	63332	\N	\N	EFO	0	EFO	T-helper 9 cell	T-helper 9 cell
CL:0000492	CL:0002061	\N	"" []	CL:0002061	"" []	203287	\N	\N	EFO	1	EFO	CD4-positive helper T cell	T-helper 9 cell
CL:0000492	CL:0002061	\N	"" []	CL:0002061	"" []	203288	\N	\N	EFO	1	EFO	CD4-positive helper T cell	T-helper 9 cell
CL:0000624	CL:0000492	\N	"" []	CL:0002061	"" []	556279	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	T-helper 9 cell
CL:0000624	CL:0000492	\N	"" []	CL:0002061	"" []	556280	\N	\N	EFO	2	EFO	CD4-positive, alpha-beta T cell	T-helper 9 cell
CL:0000912	CL:0000492	\N	"" []	CL:0002061	"" []	556281	\N	\N	EFO	2	EFO	helper T cell	T-helper 9 cell
CL:0000791	CL:0000624	\N	"" []	CL:0002061	"" []	1138970	\N	\N	EFO	3	EFO	mature alpha-beta T cell	T-helper 9 cell
CL:0000791	CL:0000624	\N	"" []	CL:0002061	"" []	1138971	\N	\N	EFO	3	EFO	mature alpha-beta T cell	T-helper 9 cell
CL:0000911	CL:0000912	\N	"" []	CL:0002061	"" []	1138972	\N	\N	EFO	3	EFO	effector T cell	T-helper 9 cell
CL:0000789	CL:0000791	\N	"" []	CL:0002061	"" []	2022038	\N	\N	EFO	4	EFO	alpha-beta T cell	T-helper 9 cell
CL:0000789	CL:0000791	\N	"" []	CL:0002061	"" []	2022039	\N	\N	EFO	4	EFO	alpha-beta T cell	T-helper 9 cell
CL:0002419	CL:0000791	\N	"" []	CL:0002061	"" []	2022040	\N	\N	EFO	4	EFO	mature T cell	T-helper 9 cell
CL:0002419	CL:0000911	\N	"" []	CL:0002061	"" []	2022041	\N	\N	EFO	4	EFO	mature T cell	T-helper 9 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002061	"" []	3176565	\N	\N	EFO	5	EFO	T cell	T-helper 9 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002061	"" []	3176566	\N	\N	EFO	5	EFO	T cell	T-helper 9 cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002061	"" []	3176567	\N	\N	EFO	5	EFO	T cell	T-helper 9 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002061	"" []	4387181	\N	\N	EFO	6	EFO	lymphocyte	T-helper 9 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002061	"" []	4387182	\N	\N	EFO	6	EFO	lymphocyte	T-helper 9 cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002061	"" []	5408238	\N	\N	EFO	7	EFO	leukocyte	T-helper 9 cell
CL:0002087	CL:0000542	\N	"" []	CL:0002061	"" []	5408239	\N	\N	EFO	7	EFO	nongranular leukocyte	T-helper 9 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002061	"" []	6147193	\N	\N	EFO	8	EFO	hematopoietic cell	T-helper 9 cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002061	"" []	6147194	\N	\N	EFO	8	EFO	leukocyte	T-helper 9 cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002061	"" []	6631708	\N	\N	EFO	9	EFO	cell type	T-helper 9 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002061	"" []	6631709	\N	\N	EFO	9	EFO	hematopoietic cell	T-helper 9 cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002061	"" []	6925234	\N	\N	EFO	10	EFO	material entity	T-helper 9 cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002061	"" []	6925235	\N	\N	EFO	10	EFO	somatic cell	T-helper 9 cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002061	"" []	7098950	\N	\N	EFO	11	EFO	experimental factor	T-helper 9 cell
CL:0002087	\N	\N	"" []	CL:0002087	"" []	63333	\N	\N	EFO	0	EFO	nongranular leukocyte	nongranular leukocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002087	"" []	203289	\N	\N	EFO	1	EFO	leukocyte	nongranular leukocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002087	"" []	203290	\N	\N	EFO	1	EFO	leukocyte	nongranular leukocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002087	"" []	556282	\N	\N	EFO	2	EFO	hematopoietic cell	nongranular leukocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002087	"" []	556283	\N	\N	EFO	2	EFO	hematopoietic cell	nongranular leukocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002087	"" []	1138973	\N	\N	EFO	3	EFO	cell type	nongranular leukocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002087	"" []	1138974	\N	\N	EFO	3	EFO	somatic cell	nongranular leukocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002087	"" []	2022042	\N	\N	EFO	4	EFO	material entity	nongranular leukocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002087	"" []	3176568	\N	\N	EFO	5	EFO	experimental factor	nongranular leukocyte
CL:0002089	\N	\N	"" []	CL:0002089	"" []	63334	\N	\N	EFO	0	EFO	nuocyte	nuocyte
CL:0001069	\N	\N	"An innate lymphoid cell that is capable of producing T-helper 2-cell associated cytokines upon stimulation." [GOC:add, GOC:dsd, PMID:23292121, PMID:23562755]	CL:0002089	"" []	194229	\N	\N	EFO	0	EFO	group 2 innate lymphoid cell	nuocyte
CL:0000738	CL:0002089	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002089	"" []	203291	\N	\N	EFO	1	EFO	leukocyte	nuocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002089	"" []	556284	\N	\N	EFO	2	EFO	hematopoietic cell	nuocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002089	"" []	1138975	\N	\N	EFO	3	EFO	cell type	nuocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002089	"" []	2022043	\N	\N	EFO	4	EFO	material entity	nuocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002089	"" []	3176569	\N	\N	EFO	5	EFO	experimental factor	nuocyte
CL:0002092	\N	\N	"A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. [ GOC:tfm ISBN:0618947256 ] " []	CL:0002092	"A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. [ GOC:tfm ISBN:0618947256 ] " []	63335	\N	\N	EFO	0	EFO	bone marrow cell	bone marrow cell
CL:0001035	\N	\N	"A connective tissue cell found in bone." [GO_REF:0000034, GOC:add]	CL:0002092	"A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. [ GOC:tfm ISBN:0618947256 ] " []	194230	\N	\N	EFO	0	EFO	bone cell	bone marrow cell
EFO:0000324	CL:0002092	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002092	"A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. [ GOC:tfm ISBN:0618947256 ] " []	203292	\N	\N	EFO	1	EFO	cell type	bone marrow cell
EFO:0003858	CL:0002092	\N	"" []	CL:0002092	"A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. [ GOC:tfm ISBN:0618947256 ] " []	203293	\N	\N	EFO	1	EFO	skeleton structure	bone marrow cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002092	"A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. [ GOC:tfm ISBN:0618947256 ] " []	556285	\N	\N	EFO	2	EFO	material entity	bone marrow cell
EFO:0000787	EFO:0003858	\N	"" []	CL:0002092	"A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. [ GOC:tfm ISBN:0618947256 ] " []	556286	\N	\N	EFO	2	EFO	animal component	bone marrow cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002092	"A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. [ GOC:tfm ISBN:0618947256 ] " []	4387183	\N	\N	EFO	6	EFO	experimental factor	bone marrow cell
EFO:0000786	EFO:0000787	\N	"" []	CL:0002092	"A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. [ GOC:tfm ISBN:0618947256 ] " []	1138977	\N	\N	EFO	3	EFO	anatomy basic component	bone marrow cell
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CL:0002092	"A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. [ GOC:tfm ISBN:0618947256 ] " []	2022044	\N	\N	EFO	4	EFO	organism part	bone marrow cell
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002092	"A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. [ GOC:tfm ISBN:0618947256 ] " []	3176570	\N	\N	EFO	5	EFO	material entity	bone marrow cell
CL:0002101	\N	\N	"" []	CL:0002101	"" []	63336	\N	\N	EFO	0	EFO	CD38-positive naive B cell	CD38-positive naive B cell
CL:0000788	CL:0002101	\N	"" []	CL:0002101	"" []	203294	\N	\N	EFO	1	EFO	naive B cell	CD38-positive naive B cell
CL:0000788	CL:0002101	\N	"" []	CL:0002101	"" []	203295	\N	\N	EFO	1	EFO	naive B cell	CD38-positive naive B cell
CL:0000785	CL:0000788	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002101	"" []	556287	\N	\N	EFO	2	EFO	mature B cell	CD38-positive naive B cell
CL:0000785	CL:0000788	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002101	"" []	556288	\N	\N	EFO	2	EFO	mature B cell	CD38-positive naive B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002101	"" []	1138978	\N	\N	EFO	3	EFO	B cell	CD38-positive naive B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002101	"" []	1138979	\N	\N	EFO	3	EFO	B cell	CD38-positive naive B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002101	"" []	2022045	\N	\N	EFO	4	EFO	lymphocyte of B lineage	CD38-positive naive B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002101	"" []	2022046	\N	\N	EFO	4	EFO	lymphocyte of B lineage	CD38-positive naive B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002101	"" []	3176571	\N	\N	EFO	5	EFO	lymphocyte	CD38-positive naive B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002101	"" []	3176572	\N	\N	EFO	5	EFO	lymphocyte	CD38-positive naive B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002101	"" []	4387184	\N	\N	EFO	6	EFO	leukocyte	CD38-positive naive B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002101	"" []	4387185	\N	\N	EFO	6	EFO	nongranular leukocyte	CD38-positive naive B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002101	"" []	5408240	\N	\N	EFO	7	EFO	hematopoietic cell	CD38-positive naive B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002101	"" []	5408241	\N	\N	EFO	7	EFO	leukocyte	CD38-positive naive B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002101	"" []	6147195	\N	\N	EFO	8	EFO	cell type	CD38-positive naive B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002101	"" []	6147196	\N	\N	EFO	8	EFO	hematopoietic cell	CD38-positive naive B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002101	"" []	6631710	\N	\N	EFO	9	EFO	material entity	CD38-positive naive B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002101	"" []	6631711	\N	\N	EFO	9	EFO	somatic cell	CD38-positive naive B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002101	"" []	6925236	\N	\N	EFO	10	EFO	experimental factor	CD38-positive naive B cell
CL:0002102	\N	\N	"" []	CL:0002102	"" []	63337	\N	\N	EFO	0	EFO	CD38-negative naive B cell	CD38-negative naive B cell
CL:0000788	CL:0002102	\N	"" []	CL:0002102	"" []	203296	\N	\N	EFO	1	EFO	naive B cell	CD38-negative naive B cell
CL:0000788	CL:0002102	\N	"" []	CL:0002102	"" []	203297	\N	\N	EFO	1	EFO	naive B cell	CD38-negative naive B cell
CL:0000785	CL:0000788	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002102	"" []	556289	\N	\N	EFO	2	EFO	mature B cell	CD38-negative naive B cell
CL:0000785	CL:0000788	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002102	"" []	556290	\N	\N	EFO	2	EFO	mature B cell	CD38-negative naive B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002102	"" []	1138980	\N	\N	EFO	3	EFO	B cell	CD38-negative naive B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002102	"" []	1138981	\N	\N	EFO	3	EFO	B cell	CD38-negative naive B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002102	"" []	2022047	\N	\N	EFO	4	EFO	lymphocyte of B lineage	CD38-negative naive B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002102	"" []	2022048	\N	\N	EFO	4	EFO	lymphocyte of B lineage	CD38-negative naive B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002102	"" []	3176573	\N	\N	EFO	5	EFO	lymphocyte	CD38-negative naive B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002102	"" []	3176574	\N	\N	EFO	5	EFO	lymphocyte	CD38-negative naive B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002102	"" []	4387186	\N	\N	EFO	6	EFO	leukocyte	CD38-negative naive B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002102	"" []	4387187	\N	\N	EFO	6	EFO	nongranular leukocyte	CD38-negative naive B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002102	"" []	5408242	\N	\N	EFO	7	EFO	hematopoietic cell	CD38-negative naive B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002102	"" []	5408243	\N	\N	EFO	7	EFO	leukocyte	CD38-negative naive B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002102	"" []	6147197	\N	\N	EFO	8	EFO	cell type	CD38-negative naive B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002102	"" []	6147198	\N	\N	EFO	8	EFO	hematopoietic cell	CD38-negative naive B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002102	"" []	6631712	\N	\N	EFO	9	EFO	material entity	CD38-negative naive B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002102	"" []	6631713	\N	\N	EFO	9	EFO	somatic cell	CD38-negative naive B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002102	"" []	6925237	\N	\N	EFO	10	EFO	experimental factor	CD38-negative naive B cell
CL:0002103	\N	\N	"" []	CL:0002103	"" []	63338	\N	\N	EFO	0	EFO	IgG-positive double negative memory B cell	IgG-positive double negative memory B cell
CL:0000981	CL:0002103	\N	"" []	CL:0002103	"" []	203298	\N	\N	EFO	1	EFO	double negative memory B cell	IgG-positive double negative memory B cell
CL:0000981	CL:0002103	\N	"" []	CL:0002103	"" []	203299	\N	\N	EFO	1	EFO	double negative memory B cell	IgG-positive double negative memory B cell
CL:0000787	CL:0000981	\N	"" []	CL:0002103	"" []	556291	\N	\N	EFO	2	EFO	memory B cell	IgG-positive double negative memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002103	"" []	1138982	\N	\N	EFO	3	EFO	mature B cell	IgG-positive double negative memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002103	"" []	2022049	\N	\N	EFO	4	EFO	B cell	IgG-positive double negative memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002103	"" []	3176575	\N	\N	EFO	5	EFO	lymphocyte of B lineage	IgG-positive double negative memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002103	"" []	4387188	\N	\N	EFO	6	EFO	lymphocyte	IgG-positive double negative memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002103	"" []	5408244	\N	\N	EFO	7	EFO	leukocyte	IgG-positive double negative memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002103	"" []	6147199	\N	\N	EFO	8	EFO	hematopoietic cell	IgG-positive double negative memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002103	"" []	6631714	\N	\N	EFO	9	EFO	cell type	IgG-positive double negative memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002103	"" []	6925238	\N	\N	EFO	10	EFO	material entity	IgG-positive double negative memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002103	"" []	7098951	\N	\N	EFO	11	EFO	experimental factor	IgG-positive double negative memory B cell
CL:0002104	\N	\N	"" []	CL:0002104	"" []	63339	\N	\N	EFO	0	EFO	IgG-negative double negative memory B cell	IgG-negative double negative memory B cell
CL:0000981	CL:0002104	\N	"" []	CL:0002104	"" []	203300	\N	\N	EFO	1	EFO	double negative memory B cell	IgG-negative double negative memory B cell
CL:0000981	CL:0002104	\N	"" []	CL:0002104	"" []	203301	\N	\N	EFO	1	EFO	double negative memory B cell	IgG-negative double negative memory B cell
CL:0000787	CL:0000981	\N	"" []	CL:0002104	"" []	556292	\N	\N	EFO	2	EFO	memory B cell	IgG-negative double negative memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002104	"" []	1138983	\N	\N	EFO	3	EFO	mature B cell	IgG-negative double negative memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002104	"" []	2022050	\N	\N	EFO	4	EFO	B cell	IgG-negative double negative memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002104	"" []	3176576	\N	\N	EFO	5	EFO	lymphocyte of B lineage	IgG-negative double negative memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002104	"" []	4387189	\N	\N	EFO	6	EFO	lymphocyte	IgG-negative double negative memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002104	"" []	5408245	\N	\N	EFO	7	EFO	leukocyte	IgG-negative double negative memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002104	"" []	6147200	\N	\N	EFO	8	EFO	hematopoietic cell	IgG-negative double negative memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002104	"" []	6631715	\N	\N	EFO	9	EFO	cell type	IgG-negative double negative memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002104	"" []	6925239	\N	\N	EFO	10	EFO	material entity	IgG-negative double negative memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002104	"" []	7098952	\N	\N	EFO	11	EFO	experimental factor	IgG-negative double negative memory B cell
CL:0002105	\N	\N	"" []	CL:0002105	"" []	63340	\N	\N	EFO	0	EFO	CD38-positive IgG memory B cell	CD38-positive IgG memory B cell
CL:0000979	CL:0002105	\N	"" []	CL:0002105	"" []	203302	\N	\N	EFO	1	EFO	IgG memory B cell	CD38-positive IgG memory B cell
CL:0000979	CL:0002105	\N	"" []	CL:0002105	"" []	203303	\N	\N	EFO	1	EFO	IgG memory B cell	CD38-positive IgG memory B cell
CL:0000972	CL:0000979	\N	"" []	CL:0002105	"" []	556293	\N	\N	EFO	2	EFO	class switched memory B cell	CD38-positive IgG memory B cell
CL:0000972	CL:0000979	\N	"" []	CL:0002105	"" []	556294	\N	\N	EFO	2	EFO	class switched memory B cell	CD38-positive IgG memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002105	"" []	1138984	\N	\N	EFO	3	EFO	memory B cell	CD38-positive IgG memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002105	"" []	1138985	\N	\N	EFO	3	EFO	memory B cell	CD38-positive IgG memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002105	"" []	2022051	\N	\N	EFO	4	EFO	mature B cell	CD38-positive IgG memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002105	"" []	2022052	\N	\N	EFO	4	EFO	mature B cell	CD38-positive IgG memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002105	"" []	3176577	\N	\N	EFO	5	EFO	B cell	CD38-positive IgG memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002105	"" []	3176578	\N	\N	EFO	5	EFO	B cell	CD38-positive IgG memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002105	"" []	4387190	\N	\N	EFO	6	EFO	lymphocyte of B lineage	CD38-positive IgG memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002105	"" []	4387191	\N	\N	EFO	6	EFO	lymphocyte of B lineage	CD38-positive IgG memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002105	"" []	5408246	\N	\N	EFO	7	EFO	lymphocyte	CD38-positive IgG memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002105	"" []	5408247	\N	\N	EFO	7	EFO	lymphocyte	CD38-positive IgG memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002105	"" []	6147201	\N	\N	EFO	8	EFO	leukocyte	CD38-positive IgG memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002105	"" []	6147202	\N	\N	EFO	8	EFO	nongranular leukocyte	CD38-positive IgG memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002105	"" []	6631716	\N	\N	EFO	9	EFO	hematopoietic cell	CD38-positive IgG memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002105	"" []	6631717	\N	\N	EFO	9	EFO	leukocyte	CD38-positive IgG memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002105	"" []	6925240	\N	\N	EFO	10	EFO	cell type	CD38-positive IgG memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002105	"" []	6925241	\N	\N	EFO	10	EFO	hematopoietic cell	CD38-positive IgG memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002105	"" []	7098953	\N	\N	EFO	11	EFO	material entity	CD38-positive IgG memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002105	"" []	7098954	\N	\N	EFO	11	EFO	somatic cell	CD38-positive IgG memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002105	"" []	7208267	\N	\N	EFO	12	EFO	experimental factor	CD38-positive IgG memory B cell
CL:0002106	\N	\N	"" []	CL:0002106	"" []	63341	\N	\N	EFO	0	EFO	IgD-positive CD38-positive IgG memory B cell	IgD-positive CD38-positive IgG memory B cell
CL:0002105	CL:0002106	\N	"" []	CL:0002106	"" []	203304	\N	\N	EFO	1	EFO	CD38-positive IgG memory B cell	IgD-positive CD38-positive IgG memory B cell
CL:0002105	CL:0002106	\N	"" []	CL:0002106	"" []	203305	\N	\N	EFO	1	EFO	CD38-positive IgG memory B cell	IgD-positive CD38-positive IgG memory B cell
CL:0000979	CL:0002105	\N	"" []	CL:0002106	"" []	556295	\N	\N	EFO	2	EFO	IgG memory B cell	IgD-positive CD38-positive IgG memory B cell
CL:0000979	CL:0002105	\N	"" []	CL:0002106	"" []	556296	\N	\N	EFO	2	EFO	IgG memory B cell	IgD-positive CD38-positive IgG memory B cell
CL:0000972	CL:0000979	\N	"" []	CL:0002106	"" []	1138986	\N	\N	EFO	3	EFO	class switched memory B cell	IgD-positive CD38-positive IgG memory B cell
CL:0000972	CL:0000979	\N	"" []	CL:0002106	"" []	1138987	\N	\N	EFO	3	EFO	class switched memory B cell	IgD-positive CD38-positive IgG memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002106	"" []	2022053	\N	\N	EFO	4	EFO	memory B cell	IgD-positive CD38-positive IgG memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002106	"" []	2022054	\N	\N	EFO	4	EFO	memory B cell	IgD-positive CD38-positive IgG memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002106	"" []	3176579	\N	\N	EFO	5	EFO	mature B cell	IgD-positive CD38-positive IgG memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002106	"" []	3176580	\N	\N	EFO	5	EFO	mature B cell	IgD-positive CD38-positive IgG memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002106	"" []	4387192	\N	\N	EFO	6	EFO	B cell	IgD-positive CD38-positive IgG memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002106	"" []	4387193	\N	\N	EFO	6	EFO	B cell	IgD-positive CD38-positive IgG memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002106	"" []	5408248	\N	\N	EFO	7	EFO	lymphocyte of B lineage	IgD-positive CD38-positive IgG memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002106	"" []	5408249	\N	\N	EFO	7	EFO	lymphocyte of B lineage	IgD-positive CD38-positive IgG memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002106	"" []	6147203	\N	\N	EFO	8	EFO	lymphocyte	IgD-positive CD38-positive IgG memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002106	"" []	6147204	\N	\N	EFO	8	EFO	lymphocyte	IgD-positive CD38-positive IgG memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002106	"" []	6631718	\N	\N	EFO	9	EFO	leukocyte	IgD-positive CD38-positive IgG memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002106	"" []	6631719	\N	\N	EFO	9	EFO	nongranular leukocyte	IgD-positive CD38-positive IgG memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002106	"" []	6925242	\N	\N	EFO	10	EFO	hematopoietic cell	IgD-positive CD38-positive IgG memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002106	"" []	6925243	\N	\N	EFO	10	EFO	leukocyte	IgD-positive CD38-positive IgG memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002106	"" []	7098955	\N	\N	EFO	11	EFO	cell type	IgD-positive CD38-positive IgG memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002106	"" []	7098956	\N	\N	EFO	11	EFO	hematopoietic cell	IgD-positive CD38-positive IgG memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002106	"" []	7208268	\N	\N	EFO	12	EFO	material entity	IgD-positive CD38-positive IgG memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002106	"" []	7208269	\N	\N	EFO	12	EFO	somatic cell	IgD-positive CD38-positive IgG memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002106	"" []	7287293	\N	\N	EFO	13	EFO	experimental factor	IgD-positive CD38-positive IgG memory B cell
CL:0002107	\N	\N	"" []	CL:0002107	"" []	63342	\N	\N	EFO	0	EFO	IgD-negative CD38-positive IgG memory B cell	IgD-negative CD38-positive IgG memory B cell
CL:0001053	\N	\N	"A memory B cell that lacks expression of surface IgD." [GOC:add, PMID:22343568]	CL:0002107	"" []	194231	\N	\N	EFO	0	EFO	IgD-negative memory B cell	IgD-negative CD38-positive IgG memory B cell
CL:0002105	CL:0002107	\N	"" []	CL:0002107	"" []	203306	\N	\N	EFO	1	EFO	CD38-positive IgG memory B cell	IgD-negative CD38-positive IgG memory B cell
CL:0002105	CL:0002107	\N	"" []	CL:0002107	"" []	203307	\N	\N	EFO	1	EFO	CD38-positive IgG memory B cell	IgD-negative CD38-positive IgG memory B cell
CL:0000979	CL:0002105	\N	"" []	CL:0002107	"" []	556297	\N	\N	EFO	2	EFO	IgG memory B cell	IgD-negative CD38-positive IgG memory B cell
CL:0000979	CL:0002105	\N	"" []	CL:0002107	"" []	556298	\N	\N	EFO	2	EFO	IgG memory B cell	IgD-negative CD38-positive IgG memory B cell
CL:0000972	CL:0000979	\N	"" []	CL:0002107	"" []	1138988	\N	\N	EFO	3	EFO	class switched memory B cell	IgD-negative CD38-positive IgG memory B cell
CL:0000972	CL:0000979	\N	"" []	CL:0002107	"" []	1138989	\N	\N	EFO	3	EFO	class switched memory B cell	IgD-negative CD38-positive IgG memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002107	"" []	2022055	\N	\N	EFO	4	EFO	memory B cell	IgD-negative CD38-positive IgG memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002107	"" []	2022056	\N	\N	EFO	4	EFO	memory B cell	IgD-negative CD38-positive IgG memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002107	"" []	3176581	\N	\N	EFO	5	EFO	mature B cell	IgD-negative CD38-positive IgG memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002107	"" []	3176582	\N	\N	EFO	5	EFO	mature B cell	IgD-negative CD38-positive IgG memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002107	"" []	4387194	\N	\N	EFO	6	EFO	B cell	IgD-negative CD38-positive IgG memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002107	"" []	4387195	\N	\N	EFO	6	EFO	B cell	IgD-negative CD38-positive IgG memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002107	"" []	5408250	\N	\N	EFO	7	EFO	lymphocyte of B lineage	IgD-negative CD38-positive IgG memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002107	"" []	5408251	\N	\N	EFO	7	EFO	lymphocyte of B lineage	IgD-negative CD38-positive IgG memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002107	"" []	6147205	\N	\N	EFO	8	EFO	lymphocyte	IgD-negative CD38-positive IgG memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002107	"" []	6147206	\N	\N	EFO	8	EFO	lymphocyte	IgD-negative CD38-positive IgG memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002107	"" []	6631720	\N	\N	EFO	9	EFO	leukocyte	IgD-negative CD38-positive IgG memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002107	"" []	6631721	\N	\N	EFO	9	EFO	nongranular leukocyte	IgD-negative CD38-positive IgG memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002107	"" []	6925244	\N	\N	EFO	10	EFO	hematopoietic cell	IgD-negative CD38-positive IgG memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002107	"" []	6925245	\N	\N	EFO	10	EFO	leukocyte	IgD-negative CD38-positive IgG memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002107	"" []	7098957	\N	\N	EFO	11	EFO	cell type	IgD-negative CD38-positive IgG memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002107	"" []	7098958	\N	\N	EFO	11	EFO	hematopoietic cell	IgD-negative CD38-positive IgG memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002107	"" []	7208270	\N	\N	EFO	12	EFO	material entity	IgD-negative CD38-positive IgG memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002107	"" []	7208271	\N	\N	EFO	12	EFO	somatic cell	IgD-negative CD38-positive IgG memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002107	"" []	7287294	\N	\N	EFO	13	EFO	experimental factor	IgD-negative CD38-positive IgG memory B cell
CL:0002108	\N	\N	"" []	CL:0002108	"" []	63343	\N	\N	EFO	0	EFO	CD38-negative IgG memory B cell	CD38-negative IgG memory B cell
CL:0001053	\N	\N	"A memory B cell that lacks expression of surface IgD." [GOC:add, PMID:22343568]	CL:0002108	"" []	194232	\N	\N	EFO	0	EFO	IgD-negative memory B cell	CD38-negative IgG memory B cell
CL:0000979	CL:0002108	\N	"" []	CL:0002108	"" []	203308	\N	\N	EFO	1	EFO	IgG memory B cell	CD38-negative IgG memory B cell
CL:0000979	CL:0002108	\N	"" []	CL:0002108	"" []	203309	\N	\N	EFO	1	EFO	IgG memory B cell	CD38-negative IgG memory B cell
CL:0000972	CL:0000979	\N	"" []	CL:0002108	"" []	556299	\N	\N	EFO	2	EFO	class switched memory B cell	CD38-negative IgG memory B cell
CL:0000972	CL:0000979	\N	"" []	CL:0002108	"" []	556300	\N	\N	EFO	2	EFO	class switched memory B cell	CD38-negative IgG memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002108	"" []	1138990	\N	\N	EFO	3	EFO	memory B cell	CD38-negative IgG memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002108	"" []	1138991	\N	\N	EFO	3	EFO	memory B cell	CD38-negative IgG memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002108	"" []	2022057	\N	\N	EFO	4	EFO	mature B cell	CD38-negative IgG memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002108	"" []	2022058	\N	\N	EFO	4	EFO	mature B cell	CD38-negative IgG memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002108	"" []	3176583	\N	\N	EFO	5	EFO	B cell	CD38-negative IgG memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002108	"" []	3176584	\N	\N	EFO	5	EFO	B cell	CD38-negative IgG memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002108	"" []	4387196	\N	\N	EFO	6	EFO	lymphocyte of B lineage	CD38-negative IgG memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002108	"" []	4387197	\N	\N	EFO	6	EFO	lymphocyte of B lineage	CD38-negative IgG memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002108	"" []	5408252	\N	\N	EFO	7	EFO	lymphocyte	CD38-negative IgG memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002108	"" []	5408253	\N	\N	EFO	7	EFO	lymphocyte	CD38-negative IgG memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002108	"" []	6147207	\N	\N	EFO	8	EFO	leukocyte	CD38-negative IgG memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002108	"" []	6147208	\N	\N	EFO	8	EFO	nongranular leukocyte	CD38-negative IgG memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002108	"" []	6631722	\N	\N	EFO	9	EFO	hematopoietic cell	CD38-negative IgG memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002108	"" []	6631723	\N	\N	EFO	9	EFO	leukocyte	CD38-negative IgG memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002108	"" []	6925246	\N	\N	EFO	10	EFO	cell type	CD38-negative IgG memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002108	"" []	6925247	\N	\N	EFO	10	EFO	hematopoietic cell	CD38-negative IgG memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002108	"" []	7098959	\N	\N	EFO	11	EFO	material entity	CD38-negative IgG memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002108	"" []	7098960	\N	\N	EFO	11	EFO	somatic cell	CD38-negative IgG memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002108	"" []	7208272	\N	\N	EFO	12	EFO	experimental factor	CD38-negative IgG memory B cell
CL:0002109	\N	\N	"" []	CL:0002109	"" []	63344	\N	\N	EFO	0	EFO	B220-positive CD38-positive naive B cell	B220-positive CD38-positive naive B cell
CL:0002101	CL:0002109	\N	"" []	CL:0002109	"" []	203310	\N	\N	EFO	1	EFO	CD38-positive naive B cell	B220-positive CD38-positive naive B cell
CL:0002101	CL:0002109	\N	"" []	CL:0002109	"" []	203311	\N	\N	EFO	1	EFO	CD38-positive naive B cell	B220-positive CD38-positive naive B cell
CL:0000788	CL:0002101	\N	"" []	CL:0002109	"" []	556301	\N	\N	EFO	2	EFO	naive B cell	B220-positive CD38-positive naive B cell
CL:0000788	CL:0002101	\N	"" []	CL:0002109	"" []	556302	\N	\N	EFO	2	EFO	naive B cell	B220-positive CD38-positive naive B cell
CL:0000785	CL:0000788	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002109	"" []	1138992	\N	\N	EFO	3	EFO	mature B cell	B220-positive CD38-positive naive B cell
CL:0000785	CL:0000788	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002109	"" []	1138993	\N	\N	EFO	3	EFO	mature B cell	B220-positive CD38-positive naive B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002109	"" []	2022059	\N	\N	EFO	4	EFO	B cell	B220-positive CD38-positive naive B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002109	"" []	2022060	\N	\N	EFO	4	EFO	B cell	B220-positive CD38-positive naive B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002109	"" []	3176585	\N	\N	EFO	5	EFO	lymphocyte of B lineage	B220-positive CD38-positive naive B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002109	"" []	3176586	\N	\N	EFO	5	EFO	lymphocyte of B lineage	B220-positive CD38-positive naive B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002109	"" []	4387198	\N	\N	EFO	6	EFO	lymphocyte	B220-positive CD38-positive naive B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002109	"" []	4387199	\N	\N	EFO	6	EFO	lymphocyte	B220-positive CD38-positive naive B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002109	"" []	5408254	\N	\N	EFO	7	EFO	leukocyte	B220-positive CD38-positive naive B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002109	"" []	5408255	\N	\N	EFO	7	EFO	nongranular leukocyte	B220-positive CD38-positive naive B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002109	"" []	6147209	\N	\N	EFO	8	EFO	hematopoietic cell	B220-positive CD38-positive naive B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002109	"" []	6147210	\N	\N	EFO	8	EFO	leukocyte	B220-positive CD38-positive naive B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002109	"" []	6631724	\N	\N	EFO	9	EFO	cell type	B220-positive CD38-positive naive B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002109	"" []	6631725	\N	\N	EFO	9	EFO	hematopoietic cell	B220-positive CD38-positive naive B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002109	"" []	6925248	\N	\N	EFO	10	EFO	material entity	B220-positive CD38-positive naive B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002109	"" []	6925249	\N	\N	EFO	10	EFO	somatic cell	B220-positive CD38-positive naive B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002109	"" []	7098961	\N	\N	EFO	11	EFO	experimental factor	B220-positive CD38-positive naive B cell
CL:0002110	\N	\N	"" []	CL:0002110	"" []	63345	\N	\N	EFO	0	EFO	B220-low CD38-positive naive B cell	B220-low CD38-positive naive B cell
CL:0002101	CL:0002110	\N	"" []	CL:0002110	"" []	203312	\N	\N	EFO	1	EFO	CD38-positive naive B cell	B220-low CD38-positive naive B cell
CL:0002109	CL:0002110	\N	"" []	CL:0002110	"" []	203313	\N	\N	EFO	1	EFO	B220-positive CD38-positive naive B cell	B220-low CD38-positive naive B cell
CL:0000788	CL:0002101	\N	"" []	CL:0002110	"" []	556303	\N	\N	EFO	2	EFO	naive B cell	B220-low CD38-positive naive B cell
CL:0002101	CL:0002109	\N	"" []	CL:0002110	"" []	556304	\N	\N	EFO	2	EFO	CD38-positive naive B cell	B220-low CD38-positive naive B cell
CL:0000785	CL:0000788	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002110	"" []	1138994	\N	\N	EFO	3	EFO	mature B cell	B220-low CD38-positive naive B cell
CL:0000788	CL:0002101	\N	"" []	CL:0002110	"" []	1138995	\N	\N	EFO	3	EFO	naive B cell	B220-low CD38-positive naive B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002110	"" []	2022061	\N	\N	EFO	4	EFO	B cell	B220-low CD38-positive naive B cell
CL:0000785	CL:0000788	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002110	"" []	2022062	\N	\N	EFO	4	EFO	mature B cell	B220-low CD38-positive naive B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002110	"" []	3176587	\N	\N	EFO	5	EFO	lymphocyte of B lineage	B220-low CD38-positive naive B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002110	"" []	3176588	\N	\N	EFO	5	EFO	B cell	B220-low CD38-positive naive B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002110	"" []	4387200	\N	\N	EFO	6	EFO	lymphocyte	B220-low CD38-positive naive B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002110	"" []	4387201	\N	\N	EFO	6	EFO	lymphocyte of B lineage	B220-low CD38-positive naive B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002110	"" []	5408256	\N	\N	EFO	7	EFO	leukocyte	B220-low CD38-positive naive B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002110	"" []	5408257	\N	\N	EFO	7	EFO	lymphocyte	B220-low CD38-positive naive B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002110	"" []	6147211	\N	\N	EFO	8	EFO	hematopoietic cell	B220-low CD38-positive naive B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002110	"" []	6147212	\N	\N	EFO	8	EFO	nongranular leukocyte	B220-low CD38-positive naive B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002110	"" []	6631726	\N	\N	EFO	9	EFO	cell type	B220-low CD38-positive naive B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002110	"" []	6631727	\N	\N	EFO	9	EFO	leukocyte	B220-low CD38-positive naive B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002110	"" []	6925250	\N	\N	EFO	10	EFO	material entity	B220-low CD38-positive naive B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002110	"" []	6925251	\N	\N	EFO	10	EFO	hematopoietic cell	B220-low CD38-positive naive B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002110	"" []	7098962	\N	\N	EFO	11	EFO	experimental factor	B220-low CD38-positive naive B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002110	"" []	7098963	\N	\N	EFO	11	EFO	somatic cell	B220-low CD38-positive naive B cell
CL:0002111	\N	\N	"" []	CL:0002111	"" []	63346	\N	\N	EFO	0	EFO	CD38-negative unswitched memory B cell	CD38-negative unswitched memory B cell
CL:0000970	CL:0002111	\N	"" []	CL:0002111	"" []	203314	\N	\N	EFO	1	EFO	unswitched memory B cell	CD38-negative unswitched memory B cell
CL:0000970	CL:0002111	\N	"" []	CL:0002111	"" []	203315	\N	\N	EFO	1	EFO	unswitched memory B cell	CD38-negative unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0002111	"" []	556305	\N	\N	EFO	2	EFO	memory B cell	CD38-negative unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0002111	"" []	556306	\N	\N	EFO	2	EFO	memory B cell	CD38-negative unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002111	"" []	1138996	\N	\N	EFO	3	EFO	mature B cell	CD38-negative unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002111	"" []	1138997	\N	\N	EFO	3	EFO	mature B cell	CD38-negative unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002111	"" []	2022063	\N	\N	EFO	4	EFO	B cell	CD38-negative unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002111	"" []	2022064	\N	\N	EFO	4	EFO	B cell	CD38-negative unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002111	"" []	3176589	\N	\N	EFO	5	EFO	lymphocyte of B lineage	CD38-negative unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002111	"" []	3176590	\N	\N	EFO	5	EFO	lymphocyte of B lineage	CD38-negative unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002111	"" []	4387202	\N	\N	EFO	6	EFO	lymphocyte	CD38-negative unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002111	"" []	4387203	\N	\N	EFO	6	EFO	lymphocyte	CD38-negative unswitched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002111	"" []	5408258	\N	\N	EFO	7	EFO	leukocyte	CD38-negative unswitched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002111	"" []	5408259	\N	\N	EFO	7	EFO	nongranular leukocyte	CD38-negative unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002111	"" []	6147213	\N	\N	EFO	8	EFO	hematopoietic cell	CD38-negative unswitched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002111	"" []	6147214	\N	\N	EFO	8	EFO	leukocyte	CD38-negative unswitched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002111	"" []	6631728	\N	\N	EFO	9	EFO	cell type	CD38-negative unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002111	"" []	6631729	\N	\N	EFO	9	EFO	hematopoietic cell	CD38-negative unswitched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002111	"" []	6925252	\N	\N	EFO	10	EFO	material entity	CD38-negative unswitched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002111	"" []	6925253	\N	\N	EFO	10	EFO	somatic cell	CD38-negative unswitched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002111	"" []	7098964	\N	\N	EFO	11	EFO	experimental factor	CD38-negative unswitched memory B cell
CL:0002112	\N	\N	"" []	CL:0002112	"" []	63347	\N	\N	EFO	0	EFO	B220-positive CD38-negative unswitched memory B cell	B220-positive CD38-negative unswitched memory B cell
CL:0002111	CL:0002112	\N	"" []	CL:0002112	"" []	203316	\N	\N	EFO	1	EFO	CD38-negative unswitched memory B cell	B220-positive CD38-negative unswitched memory B cell
CL:0002111	CL:0002112	\N	"" []	CL:0002112	"" []	203317	\N	\N	EFO	1	EFO	CD38-negative unswitched memory B cell	B220-positive CD38-negative unswitched memory B cell
CL:0000970	CL:0002111	\N	"" []	CL:0002112	"" []	556307	\N	\N	EFO	2	EFO	unswitched memory B cell	B220-positive CD38-negative unswitched memory B cell
CL:0000970	CL:0002111	\N	"" []	CL:0002112	"" []	556308	\N	\N	EFO	2	EFO	unswitched memory B cell	B220-positive CD38-negative unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0002112	"" []	1138998	\N	\N	EFO	3	EFO	memory B cell	B220-positive CD38-negative unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0002112	"" []	1138999	\N	\N	EFO	3	EFO	memory B cell	B220-positive CD38-negative unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002112	"" []	2022065	\N	\N	EFO	4	EFO	mature B cell	B220-positive CD38-negative unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002112	"" []	2022066	\N	\N	EFO	4	EFO	mature B cell	B220-positive CD38-negative unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002112	"" []	3176591	\N	\N	EFO	5	EFO	B cell	B220-positive CD38-negative unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002112	"" []	3176592	\N	\N	EFO	5	EFO	B cell	B220-positive CD38-negative unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002112	"" []	4387204	\N	\N	EFO	6	EFO	lymphocyte of B lineage	B220-positive CD38-negative unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002112	"" []	4387205	\N	\N	EFO	6	EFO	lymphocyte of B lineage	B220-positive CD38-negative unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002112	"" []	5408260	\N	\N	EFO	7	EFO	lymphocyte	B220-positive CD38-negative unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002112	"" []	5408261	\N	\N	EFO	7	EFO	lymphocyte	B220-positive CD38-negative unswitched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002112	"" []	6147215	\N	\N	EFO	8	EFO	leukocyte	B220-positive CD38-negative unswitched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002112	"" []	6147216	\N	\N	EFO	8	EFO	nongranular leukocyte	B220-positive CD38-negative unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002112	"" []	6631730	\N	\N	EFO	9	EFO	hematopoietic cell	B220-positive CD38-negative unswitched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002112	"" []	6631731	\N	\N	EFO	9	EFO	leukocyte	B220-positive CD38-negative unswitched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002112	"" []	6925254	\N	\N	EFO	10	EFO	cell type	B220-positive CD38-negative unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002112	"" []	6925255	\N	\N	EFO	10	EFO	hematopoietic cell	B220-positive CD38-negative unswitched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002112	"" []	7098965	\N	\N	EFO	11	EFO	material entity	B220-positive CD38-negative unswitched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002112	"" []	7098966	\N	\N	EFO	11	EFO	somatic cell	B220-positive CD38-negative unswitched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002112	"" []	7208273	\N	\N	EFO	12	EFO	experimental factor	B220-positive CD38-negative unswitched memory B cell
CL:0002113	\N	\N	"" []	CL:0002113	"" []	63348	\N	\N	EFO	0	EFO	B220-low CD38-negative unswitched memory B cell	B220-low CD38-negative unswitched memory B cell
CL:0002111	CL:0002113	\N	"" []	CL:0002113	"" []	203318	\N	\N	EFO	1	EFO	CD38-negative unswitched memory B cell	B220-low CD38-negative unswitched memory B cell
CL:0002112	CL:0002113	\N	"" []	CL:0002113	"" []	203319	\N	\N	EFO	1	EFO	B220-positive CD38-negative unswitched memory B cell	B220-low CD38-negative unswitched memory B cell
CL:0000970	CL:0002111	\N	"" []	CL:0002113	"" []	556309	\N	\N	EFO	2	EFO	unswitched memory B cell	B220-low CD38-negative unswitched memory B cell
CL:0002111	CL:0002112	\N	"" []	CL:0002113	"" []	556310	\N	\N	EFO	2	EFO	CD38-negative unswitched memory B cell	B220-low CD38-negative unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0002113	"" []	1139000	\N	\N	EFO	3	EFO	memory B cell	B220-low CD38-negative unswitched memory B cell
CL:0000970	CL:0002111	\N	"" []	CL:0002113	"" []	1139001	\N	\N	EFO	3	EFO	unswitched memory B cell	B220-low CD38-negative unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002113	"" []	2022067	\N	\N	EFO	4	EFO	mature B cell	B220-low CD38-negative unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0002113	"" []	2022068	\N	\N	EFO	4	EFO	memory B cell	B220-low CD38-negative unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002113	"" []	3176593	\N	\N	EFO	5	EFO	B cell	B220-low CD38-negative unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002113	"" []	3176594	\N	\N	EFO	5	EFO	mature B cell	B220-low CD38-negative unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002113	"" []	4387206	\N	\N	EFO	6	EFO	lymphocyte of B lineage	B220-low CD38-negative unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002113	"" []	4387207	\N	\N	EFO	6	EFO	B cell	B220-low CD38-negative unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002113	"" []	5408262	\N	\N	EFO	7	EFO	lymphocyte	B220-low CD38-negative unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002113	"" []	5408263	\N	\N	EFO	7	EFO	lymphocyte of B lineage	B220-low CD38-negative unswitched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002113	"" []	6147217	\N	\N	EFO	8	EFO	leukocyte	B220-low CD38-negative unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002113	"" []	6147218	\N	\N	EFO	8	EFO	lymphocyte	B220-low CD38-negative unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002113	"" []	6631732	\N	\N	EFO	9	EFO	hematopoietic cell	B220-low CD38-negative unswitched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002113	"" []	6631733	\N	\N	EFO	9	EFO	nongranular leukocyte	B220-low CD38-negative unswitched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002113	"" []	6925256	\N	\N	EFO	10	EFO	cell type	B220-low CD38-negative unswitched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002113	"" []	6925257	\N	\N	EFO	10	EFO	leukocyte	B220-low CD38-negative unswitched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002113	"" []	7098967	\N	\N	EFO	11	EFO	material entity	B220-low CD38-negative unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002113	"" []	7098968	\N	\N	EFO	11	EFO	hematopoietic cell	B220-low CD38-negative unswitched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002113	"" []	7208274	\N	\N	EFO	12	EFO	experimental factor	B220-low CD38-negative unswitched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002113	"" []	7208275	\N	\N	EFO	12	EFO	somatic cell	B220-low CD38-negative unswitched memory B cell
CL:0002114	\N	\N	"" []	CL:0002114	"" []	63349	\N	\N	EFO	0	EFO	CD38-positive unswitched memory B cell	CD38-positive unswitched memory B cell
CL:0000970	CL:0002114	\N	"" []	CL:0002114	"" []	203320	\N	\N	EFO	1	EFO	unswitched memory B cell	CD38-positive unswitched memory B cell
CL:0000970	CL:0002114	\N	"" []	CL:0002114	"" []	203321	\N	\N	EFO	1	EFO	unswitched memory B cell	CD38-positive unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0002114	"" []	556311	\N	\N	EFO	2	EFO	memory B cell	CD38-positive unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0002114	"" []	556312	\N	\N	EFO	2	EFO	memory B cell	CD38-positive unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002114	"" []	1139002	\N	\N	EFO	3	EFO	mature B cell	CD38-positive unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002114	"" []	1139003	\N	\N	EFO	3	EFO	mature B cell	CD38-positive unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002114	"" []	2022069	\N	\N	EFO	4	EFO	B cell	CD38-positive unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002114	"" []	2022070	\N	\N	EFO	4	EFO	B cell	CD38-positive unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002114	"" []	3176595	\N	\N	EFO	5	EFO	lymphocyte of B lineage	CD38-positive unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002114	"" []	3176596	\N	\N	EFO	5	EFO	lymphocyte of B lineage	CD38-positive unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002114	"" []	4387208	\N	\N	EFO	6	EFO	lymphocyte	CD38-positive unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002114	"" []	4387209	\N	\N	EFO	6	EFO	lymphocyte	CD38-positive unswitched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002114	"" []	5408264	\N	\N	EFO	7	EFO	leukocyte	CD38-positive unswitched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002114	"" []	5408265	\N	\N	EFO	7	EFO	nongranular leukocyte	CD38-positive unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002114	"" []	6147219	\N	\N	EFO	8	EFO	hematopoietic cell	CD38-positive unswitched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002114	"" []	6147220	\N	\N	EFO	8	EFO	leukocyte	CD38-positive unswitched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002114	"" []	6631734	\N	\N	EFO	9	EFO	cell type	CD38-positive unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002114	"" []	6631735	\N	\N	EFO	9	EFO	hematopoietic cell	CD38-positive unswitched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002114	"" []	6925258	\N	\N	EFO	10	EFO	material entity	CD38-positive unswitched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002114	"" []	6925259	\N	\N	EFO	10	EFO	somatic cell	CD38-positive unswitched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002114	"" []	7098969	\N	\N	EFO	11	EFO	experimental factor	CD38-positive unswitched memory B cell
CL:0002115	\N	\N	"" []	CL:0002115	"" []	63350	\N	\N	EFO	0	EFO	B220-positive CD38-positive unswitched memory B cell	B220-positive CD38-positive unswitched memory B cell
CL:0002114	CL:0002115	\N	"" []	CL:0002115	"" []	203322	\N	\N	EFO	1	EFO	CD38-positive unswitched memory B cell	B220-positive CD38-positive unswitched memory B cell
CL:0002114	CL:0002115	\N	"" []	CL:0002115	"" []	203323	\N	\N	EFO	1	EFO	CD38-positive unswitched memory B cell	B220-positive CD38-positive unswitched memory B cell
CL:0000970	CL:0002114	\N	"" []	CL:0002115	"" []	556313	\N	\N	EFO	2	EFO	unswitched memory B cell	B220-positive CD38-positive unswitched memory B cell
CL:0000970	CL:0002114	\N	"" []	CL:0002115	"" []	556314	\N	\N	EFO	2	EFO	unswitched memory B cell	B220-positive CD38-positive unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0002115	"" []	1139004	\N	\N	EFO	3	EFO	memory B cell	B220-positive CD38-positive unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0002115	"" []	1139005	\N	\N	EFO	3	EFO	memory B cell	B220-positive CD38-positive unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002115	"" []	2022071	\N	\N	EFO	4	EFO	mature B cell	B220-positive CD38-positive unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002115	"" []	2022072	\N	\N	EFO	4	EFO	mature B cell	B220-positive CD38-positive unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002115	"" []	3176597	\N	\N	EFO	5	EFO	B cell	B220-positive CD38-positive unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002115	"" []	3176598	\N	\N	EFO	5	EFO	B cell	B220-positive CD38-positive unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002115	"" []	4387210	\N	\N	EFO	6	EFO	lymphocyte of B lineage	B220-positive CD38-positive unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002115	"" []	4387211	\N	\N	EFO	6	EFO	lymphocyte of B lineage	B220-positive CD38-positive unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002115	"" []	5408266	\N	\N	EFO	7	EFO	lymphocyte	B220-positive CD38-positive unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002115	"" []	5408267	\N	\N	EFO	7	EFO	lymphocyte	B220-positive CD38-positive unswitched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002115	"" []	6147221	\N	\N	EFO	8	EFO	leukocyte	B220-positive CD38-positive unswitched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002115	"" []	6147222	\N	\N	EFO	8	EFO	nongranular leukocyte	B220-positive CD38-positive unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002115	"" []	6631736	\N	\N	EFO	9	EFO	hematopoietic cell	B220-positive CD38-positive unswitched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002115	"" []	6631737	\N	\N	EFO	9	EFO	leukocyte	B220-positive CD38-positive unswitched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002115	"" []	6925260	\N	\N	EFO	10	EFO	cell type	B220-positive CD38-positive unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002115	"" []	6925261	\N	\N	EFO	10	EFO	hematopoietic cell	B220-positive CD38-positive unswitched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002115	"" []	7098970	\N	\N	EFO	11	EFO	material entity	B220-positive CD38-positive unswitched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002115	"" []	7098971	\N	\N	EFO	11	EFO	somatic cell	B220-positive CD38-positive unswitched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002115	"" []	7208276	\N	\N	EFO	12	EFO	experimental factor	B220-positive CD38-positive unswitched memory B cell
CL:0002116	\N	\N	"" []	CL:0002116	"" []	63351	\N	\N	EFO	0	EFO	B220-low CD38-positive unswitched memory B cell	B220-low CD38-positive unswitched memory B cell
CL:0002114	CL:0002116	\N	"" []	CL:0002116	"" []	203324	\N	\N	EFO	1	EFO	CD38-positive unswitched memory B cell	B220-low CD38-positive unswitched memory B cell
CL:0002115	CL:0002116	\N	"" []	CL:0002116	"" []	203325	\N	\N	EFO	1	EFO	B220-positive CD38-positive unswitched memory B cell	B220-low CD38-positive unswitched memory B cell
CL:0000970	CL:0002114	\N	"" []	CL:0002116	"" []	556315	\N	\N	EFO	2	EFO	unswitched memory B cell	B220-low CD38-positive unswitched memory B cell
CL:0002114	CL:0002115	\N	"" []	CL:0002116	"" []	556316	\N	\N	EFO	2	EFO	CD38-positive unswitched memory B cell	B220-low CD38-positive unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0002116	"" []	1139006	\N	\N	EFO	3	EFO	memory B cell	B220-low CD38-positive unswitched memory B cell
CL:0000970	CL:0002114	\N	"" []	CL:0002116	"" []	1139007	\N	\N	EFO	3	EFO	unswitched memory B cell	B220-low CD38-positive unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002116	"" []	2022073	\N	\N	EFO	4	EFO	mature B cell	B220-low CD38-positive unswitched memory B cell
CL:0000787	CL:0000970	\N	"" []	CL:0002116	"" []	2022074	\N	\N	EFO	4	EFO	memory B cell	B220-low CD38-positive unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002116	"" []	3176599	\N	\N	EFO	5	EFO	B cell	B220-low CD38-positive unswitched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002116	"" []	3176600	\N	\N	EFO	5	EFO	mature B cell	B220-low CD38-positive unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002116	"" []	4387212	\N	\N	EFO	6	EFO	lymphocyte of B lineage	B220-low CD38-positive unswitched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002116	"" []	4387213	\N	\N	EFO	6	EFO	B cell	B220-low CD38-positive unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002116	"" []	5408268	\N	\N	EFO	7	EFO	lymphocyte	B220-low CD38-positive unswitched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002116	"" []	5408269	\N	\N	EFO	7	EFO	lymphocyte of B lineage	B220-low CD38-positive unswitched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002116	"" []	6147223	\N	\N	EFO	8	EFO	leukocyte	B220-low CD38-positive unswitched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002116	"" []	6147224	\N	\N	EFO	8	EFO	lymphocyte	B220-low CD38-positive unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002116	"" []	6631738	\N	\N	EFO	9	EFO	hematopoietic cell	B220-low CD38-positive unswitched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002116	"" []	6631739	\N	\N	EFO	9	EFO	nongranular leukocyte	B220-low CD38-positive unswitched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002116	"" []	6925262	\N	\N	EFO	10	EFO	cell type	B220-low CD38-positive unswitched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002116	"" []	6925263	\N	\N	EFO	10	EFO	leukocyte	B220-low CD38-positive unswitched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002116	"" []	7098972	\N	\N	EFO	11	EFO	material entity	B220-low CD38-positive unswitched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002116	"" []	7098973	\N	\N	EFO	11	EFO	hematopoietic cell	B220-low CD38-positive unswitched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002116	"" []	7208277	\N	\N	EFO	12	EFO	experimental factor	B220-low CD38-positive unswitched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002116	"" []	7208278	\N	\N	EFO	12	EFO	somatic cell	B220-low CD38-positive unswitched memory B cell
CL:0002117	\N	\N	"" []	CL:0002117	"" []	63352	\N	\N	EFO	0	EFO	IgG-negative class switched memory B cell	IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002117	"" []	203326	\N	\N	EFO	1	EFO	class switched memory B cell	IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002117	"" []	203327	\N	\N	EFO	1	EFO	class switched memory B cell	IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002117	"" []	556317	\N	\N	EFO	2	EFO	memory B cell	IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002117	"" []	556318	\N	\N	EFO	2	EFO	memory B cell	IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002117	"" []	1139008	\N	\N	EFO	3	EFO	mature B cell	IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002117	"" []	1139009	\N	\N	EFO	3	EFO	mature B cell	IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002117	"" []	2022075	\N	\N	EFO	4	EFO	B cell	IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002117	"" []	2022076	\N	\N	EFO	4	EFO	B cell	IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002117	"" []	3176601	\N	\N	EFO	5	EFO	lymphocyte of B lineage	IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002117	"" []	3176602	\N	\N	EFO	5	EFO	lymphocyte of B lineage	IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002117	"" []	4387214	\N	\N	EFO	6	EFO	lymphocyte	IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002117	"" []	4387215	\N	\N	EFO	6	EFO	lymphocyte	IgG-negative class switched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002117	"" []	5408270	\N	\N	EFO	7	EFO	leukocyte	IgG-negative class switched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002117	"" []	5408271	\N	\N	EFO	7	EFO	nongranular leukocyte	IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002117	"" []	6147225	\N	\N	EFO	8	EFO	hematopoietic cell	IgG-negative class switched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002117	"" []	6147226	\N	\N	EFO	8	EFO	leukocyte	IgG-negative class switched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002117	"" []	6631740	\N	\N	EFO	9	EFO	cell type	IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002117	"" []	6631741	\N	\N	EFO	9	EFO	hematopoietic cell	IgG-negative class switched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002117	"" []	6925264	\N	\N	EFO	10	EFO	material entity	IgG-negative class switched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002117	"" []	6925265	\N	\N	EFO	10	EFO	somatic cell	IgG-negative class switched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002117	"" []	7098974	\N	\N	EFO	11	EFO	experimental factor	IgG-negative class switched memory B cell
CL:0002118	\N	\N	"" []	CL:0002118	"" []	63353	\N	\N	EFO	0	EFO	CD38-negative IgG-negative class switched memory B cell	CD38-negative IgG-negative class switched memory B cell
CL:0002117	CL:0002118	\N	"" []	CL:0002118	"" []	203328	\N	\N	EFO	1	EFO	IgG-negative class switched memory B cell	CD38-negative IgG-negative class switched memory B cell
CL:0002117	CL:0002118	\N	"" []	CL:0002118	"" []	203329	\N	\N	EFO	1	EFO	IgG-negative class switched memory B cell	CD38-negative IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002118	"" []	556319	\N	\N	EFO	2	EFO	class switched memory B cell	CD38-negative IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002118	"" []	556320	\N	\N	EFO	2	EFO	class switched memory B cell	CD38-negative IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002118	"" []	1139010	\N	\N	EFO	3	EFO	memory B cell	CD38-negative IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002118	"" []	1139011	\N	\N	EFO	3	EFO	memory B cell	CD38-negative IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002118	"" []	2022077	\N	\N	EFO	4	EFO	mature B cell	CD38-negative IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002118	"" []	2022078	\N	\N	EFO	4	EFO	mature B cell	CD38-negative IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002118	"" []	3176603	\N	\N	EFO	5	EFO	B cell	CD38-negative IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002118	"" []	3176604	\N	\N	EFO	5	EFO	B cell	CD38-negative IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002118	"" []	4387216	\N	\N	EFO	6	EFO	lymphocyte of B lineage	CD38-negative IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002118	"" []	4387217	\N	\N	EFO	6	EFO	lymphocyte of B lineage	CD38-negative IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002118	"" []	5408272	\N	\N	EFO	7	EFO	lymphocyte	CD38-negative IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002118	"" []	5408273	\N	\N	EFO	7	EFO	lymphocyte	CD38-negative IgG-negative class switched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002118	"" []	6147227	\N	\N	EFO	8	EFO	leukocyte	CD38-negative IgG-negative class switched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002118	"" []	6147228	\N	\N	EFO	8	EFO	nongranular leukocyte	CD38-negative IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002118	"" []	6631742	\N	\N	EFO	9	EFO	hematopoietic cell	CD38-negative IgG-negative class switched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002118	"" []	6631743	\N	\N	EFO	9	EFO	leukocyte	CD38-negative IgG-negative class switched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002118	"" []	6925266	\N	\N	EFO	10	EFO	cell type	CD38-negative IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002118	"" []	6925267	\N	\N	EFO	10	EFO	hematopoietic cell	CD38-negative IgG-negative class switched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002118	"" []	7098975	\N	\N	EFO	11	EFO	material entity	CD38-negative IgG-negative class switched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002118	"" []	7098976	\N	\N	EFO	11	EFO	somatic cell	CD38-negative IgG-negative class switched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002118	"" []	7208279	\N	\N	EFO	12	EFO	experimental factor	CD38-negative IgG-negative class switched memory B cell
CL:0002119	\N	\N	"" []	CL:0002119	"" []	63354	\N	\N	EFO	0	EFO	CD38-positive IgG-negative class switched memory B cell	CD38-positive IgG-negative class switched memory B cell
CL:0002117	CL:0002119	\N	"" []	CL:0002119	"" []	203330	\N	\N	EFO	1	EFO	IgG-negative class switched memory B cell	CD38-positive IgG-negative class switched memory B cell
CL:0002117	CL:0002119	\N	"" []	CL:0002119	"" []	203331	\N	\N	EFO	1	EFO	IgG-negative class switched memory B cell	CD38-positive IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002119	"" []	556321	\N	\N	EFO	2	EFO	class switched memory B cell	CD38-positive IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002119	"" []	556322	\N	\N	EFO	2	EFO	class switched memory B cell	CD38-positive IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002119	"" []	1139012	\N	\N	EFO	3	EFO	memory B cell	CD38-positive IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002119	"" []	1139013	\N	\N	EFO	3	EFO	memory B cell	CD38-positive IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002119	"" []	2022079	\N	\N	EFO	4	EFO	mature B cell	CD38-positive IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002119	"" []	2022080	\N	\N	EFO	4	EFO	mature B cell	CD38-positive IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002119	"" []	3176605	\N	\N	EFO	5	EFO	B cell	CD38-positive IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002119	"" []	3176606	\N	\N	EFO	5	EFO	B cell	CD38-positive IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002119	"" []	4387218	\N	\N	EFO	6	EFO	lymphocyte of B lineage	CD38-positive IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002119	"" []	4387219	\N	\N	EFO	6	EFO	lymphocyte of B lineage	CD38-positive IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002119	"" []	5408274	\N	\N	EFO	7	EFO	lymphocyte	CD38-positive IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002119	"" []	5408275	\N	\N	EFO	7	EFO	lymphocyte	CD38-positive IgG-negative class switched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002119	"" []	6147229	\N	\N	EFO	8	EFO	leukocyte	CD38-positive IgG-negative class switched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002119	"" []	6147230	\N	\N	EFO	8	EFO	nongranular leukocyte	CD38-positive IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002119	"" []	6631744	\N	\N	EFO	9	EFO	hematopoietic cell	CD38-positive IgG-negative class switched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002119	"" []	6631745	\N	\N	EFO	9	EFO	leukocyte	CD38-positive IgG-negative class switched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002119	"" []	6925268	\N	\N	EFO	10	EFO	cell type	CD38-positive IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002119	"" []	6925269	\N	\N	EFO	10	EFO	hematopoietic cell	CD38-positive IgG-negative class switched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002119	"" []	7098977	\N	\N	EFO	11	EFO	material entity	CD38-positive IgG-negative class switched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002119	"" []	7098978	\N	\N	EFO	11	EFO	somatic cell	CD38-positive IgG-negative class switched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002119	"" []	7208280	\N	\N	EFO	12	EFO	experimental factor	CD38-positive IgG-negative class switched memory B cell
CL:0002120	\N	\N	"" []	CL:0002120	"" []	63355	\N	\N	EFO	0	EFO	CD24-positive CD38-negative IgG-negative class switched memory B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0002118	CL:0002120	\N	"" []	CL:0002120	"" []	203332	\N	\N	EFO	1	EFO	CD38-negative IgG-negative class switched memory B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0002118	CL:0002120	\N	"" []	CL:0002120	"" []	203333	\N	\N	EFO	1	EFO	CD38-negative IgG-negative class switched memory B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0002117	CL:0002118	\N	"" []	CL:0002120	"" []	556323	\N	\N	EFO	2	EFO	IgG-negative class switched memory B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0002117	CL:0002118	\N	"" []	CL:0002120	"" []	556324	\N	\N	EFO	2	EFO	IgG-negative class switched memory B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002120	"" []	1139014	\N	\N	EFO	3	EFO	class switched memory B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002120	"" []	1139015	\N	\N	EFO	3	EFO	class switched memory B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002120	"" []	2022081	\N	\N	EFO	4	EFO	memory B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002120	"" []	2022082	\N	\N	EFO	4	EFO	memory B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002120	"" []	3176607	\N	\N	EFO	5	EFO	mature B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002120	"" []	3176608	\N	\N	EFO	5	EFO	mature B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002120	"" []	4387220	\N	\N	EFO	6	EFO	B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002120	"" []	4387221	\N	\N	EFO	6	EFO	B cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002120	"" []	5408276	\N	\N	EFO	7	EFO	lymphocyte of B lineage	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002120	"" []	5408277	\N	\N	EFO	7	EFO	lymphocyte of B lineage	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002120	"" []	6147231	\N	\N	EFO	8	EFO	lymphocyte	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002120	"" []	6147232	\N	\N	EFO	8	EFO	lymphocyte	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002120	"" []	6631746	\N	\N	EFO	9	EFO	leukocyte	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002120	"" []	6631747	\N	\N	EFO	9	EFO	nongranular leukocyte	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002120	"" []	6925270	\N	\N	EFO	10	EFO	hematopoietic cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002120	"" []	6925271	\N	\N	EFO	10	EFO	leukocyte	CD24-positive CD38-negative IgG-negative class switched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002120	"" []	7098979	\N	\N	EFO	11	EFO	cell type	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002120	"" []	7098980	\N	\N	EFO	11	EFO	hematopoietic cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002120	"" []	7208281	\N	\N	EFO	12	EFO	material entity	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002120	"" []	7208282	\N	\N	EFO	12	EFO	somatic cell	CD24-positive CD38-negative IgG-negative class switched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002120	"" []	7287295	\N	\N	EFO	13	EFO	experimental factor	CD24-positive CD38-negative IgG-negative class switched memory B cell
CL:0002121	\N	\N	"" []	CL:0002121	"" []	63356	\N	\N	EFO	0	EFO	CD24-negative CD38-negative IgG-negative class switched memory B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0002118	CL:0002121	\N	"" []	CL:0002121	"" []	203334	\N	\N	EFO	1	EFO	CD38-negative IgG-negative class switched memory B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0002118	CL:0002121	\N	"" []	CL:0002121	"" []	203335	\N	\N	EFO	1	EFO	CD38-negative IgG-negative class switched memory B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0002117	CL:0002118	\N	"" []	CL:0002121	"" []	556325	\N	\N	EFO	2	EFO	IgG-negative class switched memory B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0002117	CL:0002118	\N	"" []	CL:0002121	"" []	556326	\N	\N	EFO	2	EFO	IgG-negative class switched memory B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002121	"" []	1139016	\N	\N	EFO	3	EFO	class switched memory B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002121	"" []	1139017	\N	\N	EFO	3	EFO	class switched memory B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002121	"" []	2022083	\N	\N	EFO	4	EFO	memory B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002121	"" []	2022084	\N	\N	EFO	4	EFO	memory B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002121	"" []	3176609	\N	\N	EFO	5	EFO	mature B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002121	"" []	3176610	\N	\N	EFO	5	EFO	mature B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002121	"" []	4387222	\N	\N	EFO	6	EFO	B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002121	"" []	4387223	\N	\N	EFO	6	EFO	B cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002121	"" []	5408278	\N	\N	EFO	7	EFO	lymphocyte of B lineage	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002121	"" []	5408279	\N	\N	EFO	7	EFO	lymphocyte of B lineage	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002121	"" []	6147233	\N	\N	EFO	8	EFO	lymphocyte	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002121	"" []	6147234	\N	\N	EFO	8	EFO	lymphocyte	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002121	"" []	6631748	\N	\N	EFO	9	EFO	leukocyte	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002121	"" []	6631749	\N	\N	EFO	9	EFO	nongranular leukocyte	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002121	"" []	6925272	\N	\N	EFO	10	EFO	hematopoietic cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002121	"" []	6925273	\N	\N	EFO	10	EFO	leukocyte	CD24-negative CD38-negative IgG-negative class switched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002121	"" []	7098981	\N	\N	EFO	11	EFO	cell type	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002121	"" []	7098982	\N	\N	EFO	11	EFO	hematopoietic cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002121	"" []	7208283	\N	\N	EFO	12	EFO	material entity	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002121	"" []	7208284	\N	\N	EFO	12	EFO	somatic cell	CD24-negative CD38-negative IgG-negative class switched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002121	"" []	7287296	\N	\N	EFO	13	EFO	experimental factor	CD24-negative CD38-negative IgG-negative class switched memory B cell
CL:0002122	\N	\N	"" []	CL:0002122	"" []	63357	\N	\N	EFO	0	EFO	B220-positive CD38-positive IgG-negative class switched memory B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0002119	CL:0002122	\N	"" []	CL:0002122	"" []	203336	\N	\N	EFO	1	EFO	CD38-positive IgG-negative class switched memory B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0002119	CL:0002122	\N	"" []	CL:0002122	"" []	203337	\N	\N	EFO	1	EFO	CD38-positive IgG-negative class switched memory B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0002117	CL:0002119	\N	"" []	CL:0002122	"" []	556327	\N	\N	EFO	2	EFO	IgG-negative class switched memory B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0002117	CL:0002119	\N	"" []	CL:0002122	"" []	556328	\N	\N	EFO	2	EFO	IgG-negative class switched memory B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002122	"" []	1139018	\N	\N	EFO	3	EFO	class switched memory B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002122	"" []	1139019	\N	\N	EFO	3	EFO	class switched memory B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002122	"" []	2022085	\N	\N	EFO	4	EFO	memory B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002122	"" []	2022086	\N	\N	EFO	4	EFO	memory B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002122	"" []	3176611	\N	\N	EFO	5	EFO	mature B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002122	"" []	3176612	\N	\N	EFO	5	EFO	mature B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002122	"" []	4387224	\N	\N	EFO	6	EFO	B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002122	"" []	4387225	\N	\N	EFO	6	EFO	B cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002122	"" []	5408280	\N	\N	EFO	7	EFO	lymphocyte of B lineage	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002122	"" []	5408281	\N	\N	EFO	7	EFO	lymphocyte of B lineage	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002122	"" []	6147235	\N	\N	EFO	8	EFO	lymphocyte	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002122	"" []	6147236	\N	\N	EFO	8	EFO	lymphocyte	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002122	"" []	6631750	\N	\N	EFO	9	EFO	leukocyte	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002122	"" []	6631751	\N	\N	EFO	9	EFO	nongranular leukocyte	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002122	"" []	6925274	\N	\N	EFO	10	EFO	hematopoietic cell	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002122	"" []	6925275	\N	\N	EFO	10	EFO	leukocyte	B220-positive CD38-positive IgG-negative class switched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002122	"" []	7098983	\N	\N	EFO	11	EFO	cell type	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002122	"" []	7098984	\N	\N	EFO	11	EFO	hematopoietic cell	B220-positive CD38-positive IgG-negative class switched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002122	"" []	7208285	\N	\N	EFO	12	EFO	material entity	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002122	"" []	7208286	\N	\N	EFO	12	EFO	somatic cell	B220-positive CD38-positive IgG-negative class switched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002122	"" []	7287297	\N	\N	EFO	13	EFO	experimental factor	B220-positive CD38-positive IgG-negative class switched memory B cell
CL:0002123	\N	\N	"" []	CL:0002123	"" []	63358	\N	\N	EFO	0	EFO	B220-low CD38-positive IgG-negative class switched memory B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0002119	CL:0002123	\N	"" []	CL:0002123	"" []	203338	\N	\N	EFO	1	EFO	CD38-positive IgG-negative class switched memory B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0002122	CL:0002123	\N	"" []	CL:0002123	"" []	203339	\N	\N	EFO	1	EFO	B220-positive CD38-positive IgG-negative class switched memory B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0002117	CL:0002119	\N	"" []	CL:0002123	"" []	556329	\N	\N	EFO	2	EFO	IgG-negative class switched memory B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0002119	CL:0002122	\N	"" []	CL:0002123	"" []	556330	\N	\N	EFO	2	EFO	CD38-positive IgG-negative class switched memory B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002123	"" []	1139020	\N	\N	EFO	3	EFO	class switched memory B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0002117	CL:0002119	\N	"" []	CL:0002123	"" []	1139021	\N	\N	EFO	3	EFO	IgG-negative class switched memory B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002123	"" []	2022087	\N	\N	EFO	4	EFO	memory B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000972	CL:0002117	\N	"" []	CL:0002123	"" []	2022088	\N	\N	EFO	4	EFO	class switched memory B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002123	"" []	3176613	\N	\N	EFO	5	EFO	mature B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000787	CL:0000972	\N	"" []	CL:0002123	"" []	3176614	\N	\N	EFO	5	EFO	memory B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002123	"" []	4387226	\N	\N	EFO	6	EFO	B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000785	CL:0000787	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002123	"" []	4387227	\N	\N	EFO	6	EFO	mature B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002123	"" []	5408282	\N	\N	EFO	7	EFO	lymphocyte of B lineage	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002123	"" []	5408283	\N	\N	EFO	7	EFO	B cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002123	"" []	6147237	\N	\N	EFO	8	EFO	lymphocyte	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002123	"" []	6147238	\N	\N	EFO	8	EFO	lymphocyte of B lineage	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002123	"" []	6631752	\N	\N	EFO	9	EFO	leukocyte	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002123	"" []	6631753	\N	\N	EFO	9	EFO	lymphocyte	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002123	"" []	6925276	\N	\N	EFO	10	EFO	hematopoietic cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002123	"" []	6925277	\N	\N	EFO	10	EFO	nongranular leukocyte	B220-low CD38-positive IgG-negative class switched memory B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002123	"" []	7098985	\N	\N	EFO	11	EFO	cell type	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002123	"" []	7098986	\N	\N	EFO	11	EFO	leukocyte	B220-low CD38-positive IgG-negative class switched memory B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002123	"" []	7208287	\N	\N	EFO	12	EFO	material entity	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002123	"" []	7208288	\N	\N	EFO	12	EFO	hematopoietic cell	B220-low CD38-positive IgG-negative class switched memory B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002123	"" []	7287298	\N	\N	EFO	13	EFO	experimental factor	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002123	"" []	7287299	\N	\N	EFO	13	EFO	somatic cell	B220-low CD38-positive IgG-negative class switched memory B cell
CL:0002124	\N	\N	"" []	CL:0002124	"" []	63359	\N	\N	EFO	0	EFO	CD27-positive gamma-delta T cell	CD27-positive gamma-delta T cell
CL:0000800	CL:0002124	\N	"" []	CL:0002124	"" []	203340	\N	\N	EFO	1	EFO	mature gamma-delta T cell	CD27-positive gamma-delta T cell
CL:0000800	CL:0002124	\N	"" []	CL:0002124	"" []	203341	\N	\N	EFO	1	EFO	mature gamma-delta T cell	CD27-positive gamma-delta T cell
CL:0000912	CL:0002124	\N	"" []	CL:0002124	"" []	203342	\N	\N	EFO	1	EFO	helper T cell	CD27-positive gamma-delta T cell
CL:0000798	CL:0000800	\N	"" []	CL:0002124	"" []	556331	\N	\N	EFO	2	EFO	gamma-delta T cell	CD27-positive gamma-delta T cell
CL:0000798	CL:0000800	\N	"" []	CL:0002124	"" []	556332	\N	\N	EFO	2	EFO	gamma-delta T cell	CD27-positive gamma-delta T cell
CL:0002419	CL:0000800	\N	"" []	CL:0002124	"" []	556333	\N	\N	EFO	2	EFO	mature T cell	CD27-positive gamma-delta T cell
CL:0000911	CL:0000912	\N	"" []	CL:0002124	"" []	556334	\N	\N	EFO	2	EFO	effector T cell	CD27-positive gamma-delta T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002124	"" []	1139022	\N	\N	EFO	3	EFO	T cell	CD27-positive gamma-delta T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002124	"" []	1139023	\N	\N	EFO	3	EFO	T cell	CD27-positive gamma-delta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002124	"" []	2022091	\N	\N	EFO	4	EFO	T cell	CD27-positive gamma-delta T cell
CL:0002419	CL:0000911	\N	"" []	CL:0002124	"" []	1139025	\N	\N	EFO	3	EFO	mature T cell	CD27-positive gamma-delta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002124	"" []	2022089	\N	\N	EFO	4	EFO	lymphocyte	CD27-positive gamma-delta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002124	"" []	2999207	\N	\N	EFO	5	EFO	lymphocyte	CD27-positive gamma-delta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002124	"" []	3176615	\N	\N	EFO	5	EFO	leukocyte	CD27-positive gamma-delta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0002124	"" []	4132469	\N	\N	EFO	6	EFO	nongranular leukocyte	CD27-positive gamma-delta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002124	"" []	4387228	\N	\N	EFO	6	EFO	hematopoietic cell	CD27-positive gamma-delta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002124	"" []	5180833	\N	\N	EFO	7	EFO	leukocyte	CD27-positive gamma-delta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002124	"" []	5408284	\N	\N	EFO	7	EFO	cell type	CD27-positive gamma-delta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002124	"" []	5996515	\N	\N	EFO	8	EFO	hematopoietic cell	CD27-positive gamma-delta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002124	"" []	6147239	\N	\N	EFO	8	EFO	material entity	CD27-positive gamma-delta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002124	"" []	6550342	\N	\N	EFO	9	EFO	somatic cell	CD27-positive gamma-delta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002124	"" []	6631754	\N	\N	EFO	9	EFO	experimental factor	CD27-positive gamma-delta T cell
CL:0002125	\N	\N	"" []	CL:0002125	"" []	63360	\N	\N	EFO	0	EFO	CD27-negative gamma-delta T cell	CD27-negative gamma-delta T cell
CL:0000800	CL:0002125	\N	"" []	CL:0002125	"" []	203343	\N	\N	EFO	1	EFO	mature gamma-delta T cell	CD27-negative gamma-delta T cell
CL:0000800	CL:0002125	\N	"" []	CL:0002125	"" []	203344	\N	\N	EFO	1	EFO	mature gamma-delta T cell	CD27-negative gamma-delta T cell
CL:0000912	CL:0002125	\N	"" []	CL:0002125	"" []	203345	\N	\N	EFO	1	EFO	helper T cell	CD27-negative gamma-delta T cell
CL:0000798	CL:0000800	\N	"" []	CL:0002125	"" []	556335	\N	\N	EFO	2	EFO	gamma-delta T cell	CD27-negative gamma-delta T cell
CL:0000798	CL:0000800	\N	"" []	CL:0002125	"" []	556336	\N	\N	EFO	2	EFO	gamma-delta T cell	CD27-negative gamma-delta T cell
CL:0002419	CL:0000800	\N	"" []	CL:0002125	"" []	556337	\N	\N	EFO	2	EFO	mature T cell	CD27-negative gamma-delta T cell
CL:0000911	CL:0000912	\N	"" []	CL:0002125	"" []	556338	\N	\N	EFO	2	EFO	effector T cell	CD27-negative gamma-delta T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002125	"" []	1139026	\N	\N	EFO	3	EFO	T cell	CD27-negative gamma-delta T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002125	"" []	1139027	\N	\N	EFO	3	EFO	T cell	CD27-negative gamma-delta T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002125	"" []	2022094	\N	\N	EFO	4	EFO	T cell	CD27-negative gamma-delta T cell
CL:0002419	CL:0000911	\N	"" []	CL:0002125	"" []	1139029	\N	\N	EFO	3	EFO	mature T cell	CD27-negative gamma-delta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002125	"" []	2022092	\N	\N	EFO	4	EFO	lymphocyte	CD27-negative gamma-delta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002125	"" []	2999208	\N	\N	EFO	5	EFO	lymphocyte	CD27-negative gamma-delta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002125	"" []	3176617	\N	\N	EFO	5	EFO	leukocyte	CD27-negative gamma-delta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0002125	"" []	4132470	\N	\N	EFO	6	EFO	nongranular leukocyte	CD27-negative gamma-delta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002125	"" []	4387230	\N	\N	EFO	6	EFO	hematopoietic cell	CD27-negative gamma-delta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002125	"" []	5180834	\N	\N	EFO	7	EFO	leukocyte	CD27-negative gamma-delta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002125	"" []	5408286	\N	\N	EFO	7	EFO	cell type	CD27-negative gamma-delta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002125	"" []	5996516	\N	\N	EFO	8	EFO	hematopoietic cell	CD27-negative gamma-delta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002125	"" []	6147241	\N	\N	EFO	8	EFO	material entity	CD27-negative gamma-delta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002125	"" []	6550343	\N	\N	EFO	9	EFO	somatic cell	CD27-negative gamma-delta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002125	"" []	6631755	\N	\N	EFO	9	EFO	experimental factor	CD27-negative gamma-delta T cell
CL:0002126	\N	\N	"" []	CL:0002126	"" []	63361	\N	\N	EFO	0	EFO	CD25-positive, CD27-positive immature gamma-delta T cell	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000799	CL:0002126	\N	"" []	CL:0002126	"" []	203346	\N	\N	EFO	1	EFO	immature gamma-delta T cell	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000799	CL:0002126	\N	"" []	CL:0002126	"" []	203347	\N	\N	EFO	1	EFO	immature gamma-delta T cell	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000893	CL:0002126	\N	"An immature T cell located in the thymus." []	CL:0002126	"" []	203348	\N	\N	EFO	1	EFO	thymocyte	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000798	CL:0000799	\N	"" []	CL:0002126	"" []	556339	\N	\N	EFO	2	EFO	gamma-delta T cell	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000798	CL:0000799	\N	"" []	CL:0002126	"" []	556340	\N	\N	EFO	2	EFO	gamma-delta T cell	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0002420	CL:0000799	\N	"" []	CL:0002126	"" []	556341	\N	\N	EFO	2	EFO	immature T cell	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0002420	CL:0000893	\N	"" []	CL:0002126	"" []	556342	\N	\N	EFO	2	EFO	immature T cell	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002126	"" []	1139030	\N	\N	EFO	3	EFO	T cell	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002126	"" []	1139031	\N	\N	EFO	3	EFO	T cell	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002126	"" []	1139032	\N	\N	EFO	3	EFO	T cell	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002126	"" []	2022095	\N	\N	EFO	4	EFO	lymphocyte	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002126	"" []	2022096	\N	\N	EFO	4	EFO	lymphocyte	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002126	"" []	3176619	\N	\N	EFO	5	EFO	leukocyte	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0002087	CL:0000542	\N	"" []	CL:0002126	"" []	3176620	\N	\N	EFO	5	EFO	nongranular leukocyte	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002126	"" []	4387232	\N	\N	EFO	6	EFO	hematopoietic cell	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002126	"" []	4387233	\N	\N	EFO	6	EFO	leukocyte	CD25-positive, CD27-positive immature gamma-delta T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002126	"" []	5408288	\N	\N	EFO	7	EFO	cell type	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002126	"" []	5408289	\N	\N	EFO	7	EFO	hematopoietic cell	CD25-positive, CD27-positive immature gamma-delta T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002126	"" []	6147243	\N	\N	EFO	8	EFO	material entity	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002126	"" []	6147244	\N	\N	EFO	8	EFO	somatic cell	CD25-positive, CD27-positive immature gamma-delta T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002126	"" []	6631756	\N	\N	EFO	9	EFO	experimental factor	CD25-positive, CD27-positive immature gamma-delta T cell
CL:0002127	\N	\N	"" []	CL:0002127	"" []	63362	\N	\N	EFO	0	EFO	innate effector T cell	innate effector T cell
CL:0000911	CL:0002127	\N	"" []	CL:0002127	"" []	203349	\N	\N	EFO	1	EFO	effector T cell	innate effector T cell
CL:0000911	CL:0002127	\N	"" []	CL:0002127	"" []	203350	\N	\N	EFO	1	EFO	effector T cell	innate effector T cell
CL:0002419	CL:0000911	\N	"" []	CL:0002127	"" []	556343	\N	\N	EFO	2	EFO	mature T cell	innate effector T cell
CL:0002419	CL:0000911	\N	"" []	CL:0002127	"" []	556344	\N	\N	EFO	2	EFO	mature T cell	innate effector T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002127	"" []	1139033	\N	\N	EFO	3	EFO	T cell	innate effector T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002127	"" []	1139034	\N	\N	EFO	3	EFO	T cell	innate effector T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002127	"" []	2022097	\N	\N	EFO	4	EFO	lymphocyte	innate effector T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002127	"" []	2022098	\N	\N	EFO	4	EFO	lymphocyte	innate effector T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002127	"" []	3176621	\N	\N	EFO	5	EFO	leukocyte	innate effector T cell
CL:0002087	CL:0000542	\N	"" []	CL:0002127	"" []	3176622	\N	\N	EFO	5	EFO	nongranular leukocyte	innate effector T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002127	"" []	4387234	\N	\N	EFO	6	EFO	hematopoietic cell	innate effector T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002127	"" []	4387235	\N	\N	EFO	6	EFO	leukocyte	innate effector T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002127	"" []	5408290	\N	\N	EFO	7	EFO	cell type	innate effector T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002127	"" []	5408291	\N	\N	EFO	7	EFO	hematopoietic cell	innate effector T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002127	"" []	6147245	\N	\N	EFO	8	EFO	material entity	innate effector T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002127	"" []	6147246	\N	\N	EFO	8	EFO	somatic cell	innate effector T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002127	"" []	6631757	\N	\N	EFO	9	EFO	experimental factor	innate effector T cell
CL:0002128	\N	\N	"" []	CL:0002128	"" []	63363	\N	\N	EFO	0	EFO	Tc17 cell	Tc17 cell
CL:0000908	CL:0002128	\N	"" []	CL:0002128	"" []	203351	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta cytokine secreting effector T cell	Tc17 cell
CL:0000908	CL:0002128	\N	"" []	CL:0002128	"" []	203352	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta cytokine secreting effector T cell	Tc17 cell
CL:0000625	CL:0000908	\N	"" []	CL:0002128	"" []	556345	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	Tc17 cell
CL:0000625	CL:0000908	\N	"" []	CL:0002128	"" []	556346	\N	\N	EFO	2	EFO	CD8-positive, alpha-beta T cell	Tc17 cell
CL:0000912	CL:0000908	\N	"" []	CL:0002128	"" []	556347	\N	\N	EFO	2	EFO	helper T cell	Tc17 cell
CL:0000791	CL:0000625	\N	"" []	CL:0002128	"" []	1139035	\N	\N	EFO	3	EFO	mature alpha-beta T cell	Tc17 cell
CL:0000791	CL:0000625	\N	"" []	CL:0002128	"" []	1139036	\N	\N	EFO	3	EFO	mature alpha-beta T cell	Tc17 cell
CL:0000911	CL:0000912	\N	"" []	CL:0002128	"" []	1139037	\N	\N	EFO	3	EFO	effector T cell	Tc17 cell
CL:0000789	CL:0000791	\N	"" []	CL:0002128	"" []	2022099	\N	\N	EFO	4	EFO	alpha-beta T cell	Tc17 cell
CL:0000789	CL:0000791	\N	"" []	CL:0002128	"" []	2022100	\N	\N	EFO	4	EFO	alpha-beta T cell	Tc17 cell
CL:0002419	CL:0000791	\N	"" []	CL:0002128	"" []	2022101	\N	\N	EFO	4	EFO	mature T cell	Tc17 cell
CL:0002419	CL:0000911	\N	"" []	CL:0002128	"" []	2022102	\N	\N	EFO	4	EFO	mature T cell	Tc17 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002128	"" []	3176623	\N	\N	EFO	5	EFO	T cell	Tc17 cell
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002128	"" []	3176624	\N	\N	EFO	5	EFO	T cell	Tc17 cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002128	"" []	3176625	\N	\N	EFO	5	EFO	T cell	Tc17 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002128	"" []	4387236	\N	\N	EFO	6	EFO	lymphocyte	Tc17 cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002128	"" []	4387237	\N	\N	EFO	6	EFO	lymphocyte	Tc17 cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002128	"" []	5408292	\N	\N	EFO	7	EFO	leukocyte	Tc17 cell
CL:0002087	CL:0000542	\N	"" []	CL:0002128	"" []	5408293	\N	\N	EFO	7	EFO	nongranular leukocyte	Tc17 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002128	"" []	6147247	\N	\N	EFO	8	EFO	hematopoietic cell	Tc17 cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002128	"" []	6147248	\N	\N	EFO	8	EFO	leukocyte	Tc17 cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002128	"" []	6631758	\N	\N	EFO	9	EFO	cell type	Tc17 cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002128	"" []	6631759	\N	\N	EFO	9	EFO	hematopoietic cell	Tc17 cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002128	"" []	6925278	\N	\N	EFO	10	EFO	material entity	Tc17 cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002128	"" []	6925279	\N	\N	EFO	10	EFO	somatic cell	Tc17 cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002128	"" []	7098987	\N	\N	EFO	11	EFO	experimental factor	Tc17 cell
CL:0002150	\N	\N	"" []	CL:0002150	"" []	63365	\N	\N	EFO	0	EFO	epitheloid cell	epitheloid cell
CL:0000235	CL:0002150	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002150	"" []	203353	\N	\N	EFO	1	EFO	macrophage	epitheloid cell
CL:0000766	CL:0002150	\N	"" []	CL:0002150	"" []	203354	\N	\N	EFO	1	EFO	myeloid leukocyte	epitheloid cell
CL:0000766	CL:0000235	\N	"" []	CL:0002150	"" []	556348	\N	\N	EFO	2	EFO	myeloid leukocyte	epitheloid cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002150	"" []	556349	\N	\N	EFO	2	EFO	leukocyte	epitheloid cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002150	"" []	1139038	\N	\N	EFO	3	EFO	leukocyte	epitheloid cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002150	"" []	1139039	\N	\N	EFO	3	EFO	myeloid cell	epitheloid cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002150	"" []	1139040	\N	\N	EFO	3	EFO	hematopoietic cell	epitheloid cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002150	"" []	2022103	\N	\N	EFO	4	EFO	hematopoietic cell	epitheloid cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002150	"" []	2022104	\N	\N	EFO	4	EFO	hematopoietic cell	epitheloid cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002150	"" []	2022105	\N	\N	EFO	4	EFO	cell type	epitheloid cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002150	"" []	3176626	\N	\N	EFO	5	EFO	somatic cell	epitheloid cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002150	"" []	3176627	\N	\N	EFO	5	EFO	material entity	epitheloid cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002150	"" []	4387238	\N	\N	EFO	6	EFO	experimental factor	epitheloid cell
CL:0002151	\N	\N	"" []	CL:0002151	"" []	63366	\N	\N	EFO	0	EFO	late promyelocyte	late promyelocyte
CL:0000836	CL:0002151	\N	"" []	CL:0002151	"" []	203355	\N	\N	EFO	1	EFO	promyelocyte	late promyelocyte
CL:0000836	CL:0002151	\N	"" []	CL:0002151	"" []	203356	\N	\N	EFO	1	EFO	promyelocyte	late promyelocyte
CL:0002191	CL:0000836	\N	"" []	CL:0002151	"" []	556350	\N	\N	EFO	2	EFO	granulocytopoietic cell	late promyelocyte
CL:0000763	CL:0000836	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002151	"" []	556351	\N	\N	EFO	2	EFO	myeloid cell	late promyelocyte
CL:0002191	CL:0000836	\N	"" []	CL:0002151	"" []	556352	\N	\N	EFO	2	EFO	granulocytopoietic cell	late promyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002151	"" []	1139041	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	late promyelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002151	"" []	1139042	\N	\N	EFO	3	EFO	hematopoietic cell	late promyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002151	"" []	1139043	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	late promyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002151	"" []	2022106	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	late promyelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002151	"" []	2022107	\N	\N	EFO	4	EFO	somatic cell	late promyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002151	"" []	2022108	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	late promyelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002151	"" []	3176628	\N	\N	EFO	5	EFO	hematopoietic cell	late promyelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002151	"" []	4387239	\N	\N	EFO	6	EFO	cell type	late promyelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002151	"" []	5408294	\N	\N	EFO	7	EFO	material entity	late promyelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002151	"" []	6147249	\N	\N	EFO	8	EFO	experimental factor	late promyelocyte
CL:0002154	\N	\N	"" []	CL:0002154	"" []	63367	\N	\N	EFO	0	EFO	early promyelocyte	early promyelocyte
CL:0000836	CL:0002154	\N	"" []	CL:0002154	"" []	203357	\N	\N	EFO	1	EFO	promyelocyte	early promyelocyte
CL:0000836	CL:0002154	\N	"" []	CL:0002154	"" []	203358	\N	\N	EFO	1	EFO	promyelocyte	early promyelocyte
CL:0002191	CL:0000836	\N	"" []	CL:0002154	"" []	556353	\N	\N	EFO	2	EFO	granulocytopoietic cell	early promyelocyte
CL:0000763	CL:0000836	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002154	"" []	556354	\N	\N	EFO	2	EFO	myeloid cell	early promyelocyte
CL:0002191	CL:0000836	\N	"" []	CL:0002154	"" []	556355	\N	\N	EFO	2	EFO	granulocytopoietic cell	early promyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002154	"" []	1139044	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	early promyelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002154	"" []	1139045	\N	\N	EFO	3	EFO	hematopoietic cell	early promyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002154	"" []	1139046	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	early promyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002154	"" []	2022109	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	early promyelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002154	"" []	2022110	\N	\N	EFO	4	EFO	somatic cell	early promyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002154	"" []	2022111	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	early promyelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002154	"" []	3176629	\N	\N	EFO	5	EFO	hematopoietic cell	early promyelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002154	"" []	4387240	\N	\N	EFO	6	EFO	cell type	early promyelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002154	"" []	5408295	\N	\N	EFO	7	EFO	material entity	early promyelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002154	"" []	6147250	\N	\N	EFO	8	EFO	experimental factor	early promyelocyte
CL:0002155	\N	\N	"" []	CL:0002155	"" []	63368	\N	\N	EFO	0	EFO	echinocyte	echinocyte
CL:0000595	CL:0002155	\N	"" []	CL:0002155	"" []	203359	\N	\N	EFO	1	EFO	enucleate erythrocyte	echinocyte
CL:0000595	CL:0002155	\N	"" []	CL:0002155	"" []	203360	\N	\N	EFO	1	EFO	enucleate erythrocyte	echinocyte
CL:0000232	CL:0000595	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0002155	"" []	556356	\N	\N	EFO	2	EFO	erythrocyte	echinocyte
CL:0000232	CL:0000595	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0002155	"" []	556357	\N	\N	EFO	2	EFO	erythrocyte	echinocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002155	"" []	1139047	\N	\N	EFO	3	EFO	erythroid lineage cell	echinocyte
CL:0000081	CL:0000232	\N	"A cell found predominately in the blood." []	CL:0002155	"" []	1139048	\N	\N	EFO	3	EFO	blood cell	echinocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002155	"" []	1139049	\N	\N	EFO	3	EFO	erythroid lineage cell	echinocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002155	"" []	2022112	\N	\N	EFO	4	EFO	myeloid cell	echinocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0002155	"" []	2022113	\N	\N	EFO	4	EFO	hematopoietic cell	echinocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002155	"" []	2022114	\N	\N	EFO	4	EFO	myeloid cell	echinocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002155	"" []	3176630	\N	\N	EFO	5	EFO	hematopoietic cell	echinocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002155	"" []	4387242	\N	\N	EFO	6	EFO	somatic cell	echinocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002155	"" []	3176632	\N	\N	EFO	5	EFO	hematopoietic cell	echinocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002155	"" []	4387241	\N	\N	EFO	6	EFO	cell type	echinocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002155	"" []	5408296	\N	\N	EFO	7	EFO	material entity	echinocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002155	"" []	6147251	\N	\N	EFO	8	EFO	experimental factor	echinocyte
CL:0002191	\N	\N	"" []	CL:0002191	"" []	63369	\N	\N	EFO	0	EFO	granulocytopoietic cell	granulocytopoietic cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002191	"" []	203361	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	granulocytopoietic cell
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002191	"" []	203362	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	granulocytopoietic cell
CL:0002031	CL:0000839	\N	"" []	CL:0002191	"" []	556358	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	granulocytopoietic cell
CL:0002031	CL:0000839	\N	"" []	CL:0002191	"" []	556359	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	granulocytopoietic cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002191	"" []	1139050	\N	\N	EFO	3	EFO	hematopoietic cell	granulocytopoietic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002191	"" []	2022115	\N	\N	EFO	4	EFO	cell type	granulocytopoietic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002191	"" []	3176633	\N	\N	EFO	5	EFO	material entity	granulocytopoietic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002191	"" []	4387243	\N	\N	EFO	6	EFO	experimental factor	granulocytopoietic cell
CL:0002192	\N	\N	"" []	CL:0002192	"" []	63370	\N	\N	EFO	0	EFO	metamyelocyte	metamyelocyte
CL:0000763	CL:0002192	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002192	"" []	203363	\N	\N	EFO	1	EFO	myeloid cell	metamyelocyte
CL:0002191	CL:0002192	\N	"" []	CL:0002192	"" []	203364	\N	\N	EFO	1	EFO	granulocytopoietic cell	metamyelocyte
CL:0002191	CL:0002192	\N	"" []	CL:0002192	"" []	203365	\N	\N	EFO	1	EFO	granulocytopoietic cell	metamyelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002192	"" []	556360	\N	\N	EFO	2	EFO	hematopoietic cell	metamyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002192	"" []	556361	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	metamyelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002192	"" []	556362	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	metamyelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002192	"" []	1139051	\N	\N	EFO	3	EFO	somatic cell	metamyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002192	"" []	1139052	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	metamyelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002192	"" []	1139053	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	metamyelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002192	"" []	2022116	\N	\N	EFO	4	EFO	hematopoietic cell	metamyelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002192	"" []	3176634	\N	\N	EFO	5	EFO	cell type	metamyelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002192	"" []	4387244	\N	\N	EFO	6	EFO	material entity	metamyelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002192	"" []	5408297	\N	\N	EFO	7	EFO	experimental factor	metamyelocyte
CL:0002193	\N	\N	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	63371	\N	\N	EFO	0	EFO	myelocyte	myelocyte
CL:0000763	CL:0002193	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	203366	\N	\N	EFO	1	EFO	myeloid cell	myelocyte
CL:0002191	CL:0002193	\N	"" []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	203367	\N	\N	EFO	1	EFO	granulocytopoietic cell	myelocyte
CL:0002191	CL:0002193	\N	"" []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	203368	\N	\N	EFO	1	EFO	granulocytopoietic cell	myelocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	556363	\N	\N	EFO	2	EFO	hematopoietic cell	myelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	556364	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	myelocyte
CL:0000839	CL:0002191	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	556365	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	myelocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	1139054	\N	\N	EFO	3	EFO	somatic cell	myelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	1139055	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	myelocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	1139056	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	myelocyte
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	2022117	\N	\N	EFO	4	EFO	hematopoietic cell	myelocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	3176635	\N	\N	EFO	5	EFO	cell type	myelocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	4387245	\N	\N	EFO	6	EFO	material entity	myelocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002193	"A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses." []	5408298	\N	\N	EFO	7	EFO	experimental factor	myelocyte
CL:0002194	\N	\N	"" []	CL:0002194	"" []	63372	\N	\N	EFO	0	EFO	monopoietic cell	monopoietic cell
CL:0000839	CL:0002194	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002194	"" []	203369	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	monopoietic cell
CL:0000839	CL:0002194	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002194	"" []	203370	\N	\N	EFO	1	EFO	myeloid lineage restricted progenitor cell	monopoietic cell
CL:0002031	CL:0000839	\N	"" []	CL:0002194	"" []	556366	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	monopoietic cell
CL:0002031	CL:0000839	\N	"" []	CL:0002194	"" []	556367	\N	\N	EFO	2	EFO	hematopoietic lineage restricted progenitor cell	monopoietic cell
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002194	"" []	1139057	\N	\N	EFO	3	EFO	hematopoietic cell	monopoietic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002194	"" []	2022118	\N	\N	EFO	4	EFO	cell type	monopoietic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002194	"" []	3176636	\N	\N	EFO	5	EFO	material entity	monopoietic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002194	"" []	4387246	\N	\N	EFO	6	EFO	experimental factor	monopoietic cell
CL:0002217	\N	\N	"A trophoblast that leaves the placenta and invades the endometrium and myometrium. This cell type is crucial in increasing blood flow to the fetus." []	CL:0002217	"A trophoblast that leaves the placenta and invades the endometrium and myometrium. This cell type is crucial in increasing blood flow to the fetus." []	63373	\N	\N	EFO	0	EFO	intermediate trophoblast cell	intermediate trophoblast cell
CL:0000351	CL:0002217	\N	"A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." []	CL:0002217	"A trophoblast that leaves the placenta and invades the endometrium and myometrium. This cell type is crucial in increasing blood flow to the fetus." []	203371	\N	\N	EFO	1	EFO	trophoblast cell	intermediate trophoblast cell
CL:0000351	CL:0002217	\N	"A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." []	CL:0002217	"A trophoblast that leaves the placenta and invades the endometrium and myometrium. This cell type is crucial in increasing blood flow to the fetus." []	203372	\N	\N	EFO	1	EFO	trophoblast cell	intermediate trophoblast cell
CL:0000349	CL:0000351	\N	"A cell which is part of an extraembryonic structure associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis." []	CL:0002217	"A trophoblast that leaves the placenta and invades the endometrium and myometrium. This cell type is crucial in increasing blood flow to the fetus." []	556368	\N	\N	EFO	2	EFO	extraembryonic cell	intermediate trophoblast cell
CL:0000349	CL:0000351	\N	"A cell which is part of an extraembryonic structure associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis." []	CL:0002217	"A trophoblast that leaves the placenta and invades the endometrium and myometrium. This cell type is crucial in increasing blood flow to the fetus." []	556369	\N	\N	EFO	2	EFO	extraembryonic cell	intermediate trophoblast cell
EFO:0000324	CL:0000349	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002217	"A trophoblast that leaves the placenta and invades the endometrium and myometrium. This cell type is crucial in increasing blood flow to the fetus." []	1139058	\N	\N	EFO	3	EFO	cell type	intermediate trophoblast cell
CL:0002371	CL:0000349	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002217	"A trophoblast that leaves the placenta and invades the endometrium and myometrium. This cell type is crucial in increasing blood flow to the fetus." []	1139059	\N	\N	EFO	3	EFO	somatic cell	intermediate trophoblast cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002217	"A trophoblast that leaves the placenta and invades the endometrium and myometrium. This cell type is crucial in increasing blood flow to the fetus." []	2022119	\N	\N	EFO	4	EFO	material entity	intermediate trophoblast cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002217	"A trophoblast that leaves the placenta and invades the endometrium and myometrium. This cell type is crucial in increasing blood flow to the fetus." []	3176637	\N	\N	EFO	5	EFO	experimental factor	intermediate trophoblast cell
CL:0002218	\N	\N	"" []	CL:0002218	"" []	63374	\N	\N	EFO	0	EFO	immature dendritic epithelial T cell precursor	immature dendritic epithelial T cell precursor
CL:0002404	CL:0002218	\N	"" []	CL:0002218	"" []	203373	\N	\N	EFO	1	EFO	fetal thymocyte	immature dendritic epithelial T cell precursor
CL:0002404	CL:0002218	\N	"" []	CL:0002218	"" []	203374	\N	\N	EFO	1	EFO	fetal thymocyte	immature dendritic epithelial T cell precursor
CL:0000893	CL:0002404	\N	"An immature T cell located in the thymus." []	CL:0002218	"" []	556370	\N	\N	EFO	2	EFO	thymocyte	immature dendritic epithelial T cell precursor
CL:0000893	CL:0002404	\N	"An immature T cell located in the thymus." []	CL:0002218	"" []	556371	\N	\N	EFO	2	EFO	thymocyte	immature dendritic epithelial T cell precursor
CL:0002420	CL:0000893	\N	"" []	CL:0002218	"" []	1139060	\N	\N	EFO	3	EFO	immature T cell	immature dendritic epithelial T cell precursor
CL:0002420	CL:0000893	\N	"" []	CL:0002218	"" []	1139061	\N	\N	EFO	3	EFO	immature T cell	immature dendritic epithelial T cell precursor
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002218	"" []	2022120	\N	\N	EFO	4	EFO	T cell	immature dendritic epithelial T cell precursor
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002218	"" []	2022121	\N	\N	EFO	4	EFO	T cell	immature dendritic epithelial T cell precursor
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002218	"" []	3176638	\N	\N	EFO	5	EFO	lymphocyte	immature dendritic epithelial T cell precursor
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002218	"" []	3176639	\N	\N	EFO	5	EFO	lymphocyte	immature dendritic epithelial T cell precursor
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002218	"" []	4387247	\N	\N	EFO	6	EFO	leukocyte	immature dendritic epithelial T cell precursor
CL:0002087	CL:0000542	\N	"" []	CL:0002218	"" []	4387248	\N	\N	EFO	6	EFO	nongranular leukocyte	immature dendritic epithelial T cell precursor
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002218	"" []	5408299	\N	\N	EFO	7	EFO	hematopoietic cell	immature dendritic epithelial T cell precursor
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002218	"" []	5408300	\N	\N	EFO	7	EFO	leukocyte	immature dendritic epithelial T cell precursor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002218	"" []	6147252	\N	\N	EFO	8	EFO	cell type	immature dendritic epithelial T cell precursor
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002218	"" []	6147253	\N	\N	EFO	8	EFO	hematopoietic cell	immature dendritic epithelial T cell precursor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002218	"" []	6631760	\N	\N	EFO	9	EFO	material entity	immature dendritic epithelial T cell precursor
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002218	"" []	6631761	\N	\N	EFO	9	EFO	somatic cell	immature dendritic epithelial T cell precursor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002218	"" []	6925280	\N	\N	EFO	10	EFO	experimental factor	immature dendritic epithelial T cell precursor
CL:0002246	\N	\N	"" []	CL:0002246	"" []	63376	\N	\N	EFO	0	EFO	peripheral blood stem cell	peripheral blood stem cell
CL:0000037	CL:0002246	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002246	"" []	203375	\N	\N	EFO	1	EFO	hematopoietic stem cell	peripheral blood stem cell
CL:0000037	CL:0002246	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002246	"" []	203376	\N	\N	EFO	1	EFO	hematopoietic stem cell	peripheral blood stem cell
CL:0000080	CL:0002246	\N	"A cell which moves among different tissues of the body, via blood, lymph, or other medium." []	CL:0002246	"" []	203377	\N	\N	EFO	1	EFO	circulating cell	peripheral blood stem cell
CL:0000988	CL:0000037	\N	"A cell of a hematopoietic lineage." []	CL:0002246	"" []	556372	\N	\N	EFO	2	EFO	hematopoietic cell	peripheral blood stem cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002246	"" []	1139062	\N	\N	EFO	3	EFO	cell type	peripheral blood stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002246	"" []	2022122	\N	\N	EFO	4	EFO	material entity	peripheral blood stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002246	"" []	3176640	\N	\N	EFO	5	EFO	experimental factor	peripheral blood stem cell
CL:0002247	\N	\N	"" []	CL:0002247	"" []	63377	\N	\N	EFO	0	EFO	pleural macrophage	pleural macrophage
CL:0000864	CL:0002247	\N	"" []	CL:0002247	"" []	203378	\N	\N	EFO	1	EFO	tissue-resident macrophage	pleural macrophage
CL:0000864	CL:0002247	\N	"" []	CL:0002247	"" []	203379	\N	\N	EFO	1	EFO	tissue-resident macrophage	pleural macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002247	"" []	556373	\N	\N	EFO	2	EFO	macrophage	pleural macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002247	"" []	556374	\N	\N	EFO	2	EFO	macrophage	pleural macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0002247	"" []	1139063	\N	\N	EFO	3	EFO	myeloid leukocyte	pleural macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0002247	"" []	1139064	\N	\N	EFO	3	EFO	myeloid leukocyte	pleural macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002247	"" []	2022123	\N	\N	EFO	4	EFO	leukocyte	pleural macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002247	"" []	2022124	\N	\N	EFO	4	EFO	leukocyte	pleural macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002247	"" []	2022125	\N	\N	EFO	4	EFO	myeloid cell	pleural macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002247	"" []	3176641	\N	\N	EFO	5	EFO	hematopoietic cell	pleural macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002247	"" []	3176642	\N	\N	EFO	5	EFO	hematopoietic cell	pleural macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002247	"" []	3176643	\N	\N	EFO	5	EFO	hematopoietic cell	pleural macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002247	"" []	4387249	\N	\N	EFO	6	EFO	cell type	pleural macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002247	"" []	4387250	\N	\N	EFO	6	EFO	somatic cell	pleural macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002247	"" []	5408301	\N	\N	EFO	7	EFO	material entity	pleural macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002247	"" []	6147254	\N	\N	EFO	8	EFO	experimental factor	pleural macrophage
CL:0002318	\N	\N	"" []	CL:0002318	"" []	63380	\N	\N	EFO	0	EFO	periperhal blood mesothelial cell	periperhal blood mesothelial cell
CL:0000081	CL:0002318	\N	"A cell found predominately in the blood." []	CL:0002318	"" []	203380	\N	\N	EFO	1	EFO	blood cell	periperhal blood mesothelial cell
CL:0000081	CL:0002318	\N	"A cell found predominately in the blood." []	CL:0002318	"" []	203381	\N	\N	EFO	1	EFO	blood cell	periperhal blood mesothelial cell
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0002318	"" []	556375	\N	\N	EFO	2	EFO	hematopoietic cell	periperhal blood mesothelial cell
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0002318	"" []	556376	\N	\N	EFO	2	EFO	hematopoietic cell	periperhal blood mesothelial cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002318	"" []	1139065	\N	\N	EFO	3	EFO	cell type	periperhal blood mesothelial cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002318	"" []	1139066	\N	\N	EFO	3	EFO	somatic cell	periperhal blood mesothelial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002318	"" []	2022126	\N	\N	EFO	4	EFO	material entity	periperhal blood mesothelial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002318	"" []	3176644	\N	\N	EFO	5	EFO	experimental factor	periperhal blood mesothelial cell
CL:0002319	\N	\N	"" []	CL:0002319	"" []	63381	\N	\N	EFO	0	EFO	neural cell	neural cell
CL:0000548	\N	\N	"" []	CL:0002319	"" []	194237	\N	ubprop_upper_level	EFO	0	EFO	animal cell	neural cell
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002319	"" []	203382	\N	\N	EFO	1	EFO	somatic cell	neural cell
EFO:0002963	CL:0002319	\N	"" []	CL:0002319	"" []	203383	\N	\N	EFO	1	EFO	nervous system cell	neural cell
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002319	"" []	556377	\N	\N	EFO	2	EFO	cell type	neural cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002319	"" []	1139067	\N	\N	EFO	3	EFO	material entity	neural cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002319	"" []	2022127	\N	\N	EFO	4	EFO	experimental factor	neural cell
CL:0002321	\N	\N	"A cell of the embryo." []	CL:0002321	"A cell of the embryo." []	63382	\N	\N	EFO	0	EFO	embryonic cell	embryonic cell
CL:0000548	\N	\N	"" []	CL:0002321	"A cell of the embryo." []	194238	\N	ubprop_upper_level	EFO	0	EFO	animal cell	embryonic cell
EFO:0000324	CL:0002321	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002321	"A cell of the embryo." []	203384	\N	\N	EFO	1	EFO	cell type	embryonic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002321	"A cell of the embryo." []	556378	\N	\N	EFO	2	EFO	material entity	embryonic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002321	"A cell of the embryo." []	1139068	\N	\N	EFO	3	EFO	experimental factor	embryonic cell
CL:0002322	\N	\N	"Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals." []	CL:0002322	"Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals." []	63383	\N	\N	EFO	0	EFO	embryonic stem cell	embryonic stem cell
CL:0000034	CL:0002322	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0002322	"Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals." []	203385	\N	\N	EFO	1	EFO	stem cell	embryonic stem cell
CL:0000034	CL:0002322	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0002322	"Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals." []	203386	\N	\N	EFO	1	EFO	stem cell	embryonic stem cell
CL:0002321	CL:0002322	\N	"A cell of the embryo." []	CL:0002322	"Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals." []	203387	\N	\N	EFO	1	EFO	embryonic cell	embryonic stem cell
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002322	"Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals." []	556379	\N	\N	EFO	2	EFO	cell type	embryonic stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002322	"Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals." []	1139069	\N	\N	EFO	3	EFO	material entity	embryonic stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002322	"Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals." []	2022128	\N	\N	EFO	4	EFO	experimental factor	embryonic stem cell
CL:0002334	\N	\N	"An undifferentiatedfibroblastthat can be stimulated to form a fat cell." []	CL:0002334	"An undifferentiatedfibroblastthat can be stimulated to form a fat cell." []	63385	\N	\N	EFO	0	EFO	preadipocyte	preadipocyte
CL:0000057	CL:0002334	\N	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	CL:0002334	"An undifferentiatedfibroblastthat can be stimulated to form a fat cell." []	203388	\N	\N	EFO	1	EFO	fibroblast	preadipocyte
EFO:0000324	CL:0002334	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002334	"An undifferentiatedfibroblastthat can be stimulated to form a fat cell." []	203389	\N	\N	EFO	1	EFO	cell type	preadipocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002334	"An undifferentiatedfibroblastthat can be stimulated to form a fat cell." []	556380	\N	\N	EFO	2	EFO	material entity	preadipocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002334	"An undifferentiatedfibroblastthat can be stimulated to form a fat cell." []	1139070	\N	\N	EFO	3	EFO	experimental factor	preadipocyte
CL:0002338	\N	\N	"" []	CL:0002338	"" []	63386	\N	\N	EFO	0	EFO	CD56-positive, CD161-positive immature natural killer cell	CD56-positive, CD161-positive immature natural killer cell
CL:0000823	CL:0002338	\N	"" []	CL:0002338	"" []	203390	\N	\N	EFO	1	EFO	immature natural killer cell	CD56-positive, CD161-positive immature natural killer cell
CL:0000823	CL:0002338	\N	"" []	CL:0002338	"" []	203391	\N	\N	EFO	1	EFO	immature natural killer cell	CD56-positive, CD161-positive immature natural killer cell
CL:0000623	CL:0000823	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002338	"" []	556381	\N	\N	EFO	2	EFO	natural killer cell	CD56-positive, CD161-positive immature natural killer cell
CL:0000623	CL:0000823	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002338	"" []	556382	\N	\N	EFO	2	EFO	natural killer cell	CD56-positive, CD161-positive immature natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002338	"" []	1139071	\N	\N	EFO	3	EFO	lymphocyte	CD56-positive, CD161-positive immature natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002338	"" []	2022129	\N	\N	EFO	4	EFO	leukocyte	CD56-positive, CD161-positive immature natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002338	"" []	3176645	\N	\N	EFO	5	EFO	hematopoietic cell	CD56-positive, CD161-positive immature natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002338	"" []	4387251	\N	\N	EFO	6	EFO	cell type	CD56-positive, CD161-positive immature natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002338	"" []	5408302	\N	\N	EFO	7	EFO	material entity	CD56-positive, CD161-positive immature natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002338	"" []	6147255	\N	\N	EFO	8	EFO	experimental factor	CD56-positive, CD161-positive immature natural killer cell
CL:0002343	\N	\N	"" []	CL:0002343	"" []	63388	\N	\N	EFO	0	EFO	decidual natural killer cell	decidual natural killer cell
CL:0000824	CL:0002343	\N	"" []	CL:0002343	"" []	203392	\N	\N	EFO	1	EFO	mature natural killer cell	decidual natural killer cell
CL:0000824	CL:0002343	\N	"" []	CL:0002343	"" []	203393	\N	\N	EFO	1	EFO	mature natural killer cell	decidual natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002343	"" []	556383	\N	\N	EFO	2	EFO	natural killer cell	decidual natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002343	"" []	556384	\N	\N	EFO	2	EFO	natural killer cell	decidual natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002343	"" []	1139072	\N	\N	EFO	3	EFO	lymphocyte	decidual natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002343	"" []	2022130	\N	\N	EFO	4	EFO	leukocyte	decidual natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002343	"" []	3176646	\N	\N	EFO	5	EFO	hematopoietic cell	decidual natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002343	"" []	4387252	\N	\N	EFO	6	EFO	cell type	decidual natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002343	"" []	5408303	\N	\N	EFO	7	EFO	material entity	decidual natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002343	"" []	6147256	\N	\N	EFO	8	EFO	experimental factor	decidual natural killer cell
CL:0002344	\N	\N	"" []	CL:0002344	"" []	63389	\N	\N	EFO	0	EFO	CD56-negative, CD161-positive immature natural killer cell	CD56-negative, CD161-positive immature natural killer cell
CL:0000823	CL:0002344	\N	"" []	CL:0002344	"" []	203394	\N	\N	EFO	1	EFO	immature natural killer cell	CD56-negative, CD161-positive immature natural killer cell
CL:0000823	CL:0002344	\N	"" []	CL:0002344	"" []	203395	\N	\N	EFO	1	EFO	immature natural killer cell	CD56-negative, CD161-positive immature natural killer cell
CL:0000623	CL:0000823	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002344	"" []	556385	\N	\N	EFO	2	EFO	natural killer cell	CD56-negative, CD161-positive immature natural killer cell
CL:0000623	CL:0000823	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002344	"" []	556386	\N	\N	EFO	2	EFO	natural killer cell	CD56-negative, CD161-positive immature natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002344	"" []	1139073	\N	\N	EFO	3	EFO	lymphocyte	CD56-negative, CD161-positive immature natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002344	"" []	2022131	\N	\N	EFO	4	EFO	leukocyte	CD56-negative, CD161-positive immature natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002344	"" []	3176647	\N	\N	EFO	5	EFO	hematopoietic cell	CD56-negative, CD161-positive immature natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002344	"" []	4387253	\N	\N	EFO	6	EFO	cell type	CD56-negative, CD161-positive immature natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002344	"" []	5408304	\N	\N	EFO	7	EFO	material entity	CD56-negative, CD161-positive immature natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002344	"" []	6147257	\N	\N	EFO	8	EFO	experimental factor	CD56-negative, CD161-positive immature natural killer cell
CL:0002345	\N	\N	"" []	CL:0002345	"" []	63390	\N	\N	EFO	0	EFO	CD27-low, CD11b-low immature natural killer cell	CD27-low, CD11b-low immature natural killer cell
CL:0000823	CL:0002345	\N	"" []	CL:0002345	"" []	203396	\N	\N	EFO	1	EFO	immature natural killer cell	CD27-low, CD11b-low immature natural killer cell
CL:0000823	CL:0002345	\N	"" []	CL:0002345	"" []	203397	\N	\N	EFO	1	EFO	immature natural killer cell	CD27-low, CD11b-low immature natural killer cell
CL:0000623	CL:0000823	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002345	"" []	556387	\N	\N	EFO	2	EFO	natural killer cell	CD27-low, CD11b-low immature natural killer cell
CL:0000623	CL:0000823	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002345	"" []	556388	\N	\N	EFO	2	EFO	natural killer cell	CD27-low, CD11b-low immature natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002345	"" []	1139074	\N	\N	EFO	3	EFO	lymphocyte	CD27-low, CD11b-low immature natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002345	"" []	2022132	\N	\N	EFO	4	EFO	leukocyte	CD27-low, CD11b-low immature natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002345	"" []	3176648	\N	\N	EFO	5	EFO	hematopoietic cell	CD27-low, CD11b-low immature natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002345	"" []	4387254	\N	\N	EFO	6	EFO	cell type	CD27-low, CD11b-low immature natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002345	"" []	5408305	\N	\N	EFO	7	EFO	material entity	CD27-low, CD11b-low immature natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002345	"" []	6147258	\N	\N	EFO	8	EFO	experimental factor	CD27-low, CD11b-low immature natural killer cell
CL:0002346	\N	\N	"" []	CL:0002346	"" []	63391	\N	\N	EFO	0	EFO	Dx5-negative, NK1.1-positive immature natural killer cell	Dx5-negative, NK1.1-positive immature natural killer cell
CL:0000823	CL:0002346	\N	"" []	CL:0002346	"" []	203398	\N	\N	EFO	1	EFO	immature natural killer cell	Dx5-negative, NK1.1-positive immature natural killer cell
CL:0000823	CL:0002346	\N	"" []	CL:0002346	"" []	203399	\N	\N	EFO	1	EFO	immature natural killer cell	Dx5-negative, NK1.1-positive immature natural killer cell
CL:0000623	CL:0000823	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002346	"" []	556389	\N	\N	EFO	2	EFO	natural killer cell	Dx5-negative, NK1.1-positive immature natural killer cell
CL:0000623	CL:0000823	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002346	"" []	556390	\N	\N	EFO	2	EFO	natural killer cell	Dx5-negative, NK1.1-positive immature natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002346	"" []	1139075	\N	\N	EFO	3	EFO	lymphocyte	Dx5-negative, NK1.1-positive immature natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002346	"" []	2022133	\N	\N	EFO	4	EFO	leukocyte	Dx5-negative, NK1.1-positive immature natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002346	"" []	3176649	\N	\N	EFO	5	EFO	hematopoietic cell	Dx5-negative, NK1.1-positive immature natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002346	"" []	4387255	\N	\N	EFO	6	EFO	cell type	Dx5-negative, NK1.1-positive immature natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002346	"" []	5408306	\N	\N	EFO	7	EFO	material entity	Dx5-negative, NK1.1-positive immature natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002346	"" []	6147259	\N	\N	EFO	8	EFO	experimental factor	Dx5-negative, NK1.1-positive immature natural killer cell
CL:0002347	\N	\N	"" []	CL:0002347	"" []	63392	\N	\N	EFO	0	EFO	CD27-high, CD11b-high natural killer cell	CD27-high, CD11b-high natural killer cell
CL:0002426	CL:0002347	\N	"" []	CL:0002347	"" []	203400	\N	\N	EFO	1	EFO	CD11b-positive, CD27-positive natural killer cell	CD27-high, CD11b-high natural killer cell
CL:0002426	CL:0002347	\N	"" []	CL:0002347	"" []	203401	\N	\N	EFO	1	EFO	CD11b-positive, CD27-positive natural killer cell	CD27-high, CD11b-high natural killer cell
CL:0002438	CL:0002426	\N	"" []	CL:0002347	"" []	556391	\N	\N	EFO	2	EFO	NK1.1-positive natural killer cell	CD27-high, CD11b-high natural killer cell
CL:0002438	CL:0002426	\N	"" []	CL:0002347	"" []	556392	\N	\N	EFO	2	EFO	NK1.1-positive natural killer cell	CD27-high, CD11b-high natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002347	"" []	1139076	\N	\N	EFO	3	EFO	mature natural killer cell	CD27-high, CD11b-high natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002347	"" []	1139077	\N	\N	EFO	3	EFO	mature natural killer cell	CD27-high, CD11b-high natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002347	"" []	2022134	\N	\N	EFO	4	EFO	natural killer cell	CD27-high, CD11b-high natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002347	"" []	2022135	\N	\N	EFO	4	EFO	natural killer cell	CD27-high, CD11b-high natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002347	"" []	3176650	\N	\N	EFO	5	EFO	lymphocyte	CD27-high, CD11b-high natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002347	"" []	4387256	\N	\N	EFO	6	EFO	leukocyte	CD27-high, CD11b-high natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002347	"" []	5408307	\N	\N	EFO	7	EFO	hematopoietic cell	CD27-high, CD11b-high natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002347	"" []	6147260	\N	\N	EFO	8	EFO	cell type	CD27-high, CD11b-high natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002347	"" []	6631762	\N	\N	EFO	9	EFO	material entity	CD27-high, CD11b-high natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002347	"" []	6925281	\N	\N	EFO	10	EFO	experimental factor	CD27-high, CD11b-high natural killer cell
CL:0002348	\N	\N	"" []	CL:0002348	"" []	63393	\N	\N	EFO	0	EFO	CD27-low, CD11b-high natural killer cell	CD27-low, CD11b-high natural killer cell
CL:0002426	CL:0002348	\N	"" []	CL:0002348	"" []	203402	\N	\N	EFO	1	EFO	CD11b-positive, CD27-positive natural killer cell	CD27-low, CD11b-high natural killer cell
CL:0002426	CL:0002348	\N	"" []	CL:0002348	"" []	203403	\N	\N	EFO	1	EFO	CD11b-positive, CD27-positive natural killer cell	CD27-low, CD11b-high natural killer cell
CL:0002438	CL:0002426	\N	"" []	CL:0002348	"" []	556393	\N	\N	EFO	2	EFO	NK1.1-positive natural killer cell	CD27-low, CD11b-high natural killer cell
CL:0002438	CL:0002426	\N	"" []	CL:0002348	"" []	556394	\N	\N	EFO	2	EFO	NK1.1-positive natural killer cell	CD27-low, CD11b-high natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002348	"" []	1139078	\N	\N	EFO	3	EFO	mature natural killer cell	CD27-low, CD11b-high natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002348	"" []	1139079	\N	\N	EFO	3	EFO	mature natural killer cell	CD27-low, CD11b-high natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002348	"" []	2022136	\N	\N	EFO	4	EFO	natural killer cell	CD27-low, CD11b-high natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002348	"" []	2022137	\N	\N	EFO	4	EFO	natural killer cell	CD27-low, CD11b-high natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002348	"" []	3176651	\N	\N	EFO	5	EFO	lymphocyte	CD27-low, CD11b-high natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002348	"" []	4387257	\N	\N	EFO	6	EFO	leukocyte	CD27-low, CD11b-high natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002348	"" []	5408308	\N	\N	EFO	7	EFO	hematopoietic cell	CD27-low, CD11b-high natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002348	"" []	6147261	\N	\N	EFO	8	EFO	cell type	CD27-low, CD11b-high natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002348	"" []	6631763	\N	\N	EFO	9	EFO	material entity	CD27-low, CD11b-high natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002348	"" []	6925282	\N	\N	EFO	10	EFO	experimental factor	CD27-low, CD11b-high natural killer cell
CL:0002349	\N	\N	"" []	CL:0002349	"" []	63394	\N	\N	EFO	0	EFO	CD27-high, CD11b-low natural killer cell	CD27-high, CD11b-low natural killer cell
CL:0002426	CL:0002349	\N	"" []	CL:0002349	"" []	203404	\N	\N	EFO	1	EFO	CD11b-positive, CD27-positive natural killer cell	CD27-high, CD11b-low natural killer cell
CL:0002426	CL:0002349	\N	"" []	CL:0002349	"" []	203405	\N	\N	EFO	1	EFO	CD11b-positive, CD27-positive natural killer cell	CD27-high, CD11b-low natural killer cell
CL:0002438	CL:0002426	\N	"" []	CL:0002349	"" []	556395	\N	\N	EFO	2	EFO	NK1.1-positive natural killer cell	CD27-high, CD11b-low natural killer cell
CL:0002438	CL:0002426	\N	"" []	CL:0002349	"" []	556396	\N	\N	EFO	2	EFO	NK1.1-positive natural killer cell	CD27-high, CD11b-low natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002349	"" []	1139080	\N	\N	EFO	3	EFO	mature natural killer cell	CD27-high, CD11b-low natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002349	"" []	1139081	\N	\N	EFO	3	EFO	mature natural killer cell	CD27-high, CD11b-low natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002349	"" []	2022138	\N	\N	EFO	4	EFO	natural killer cell	CD27-high, CD11b-low natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002349	"" []	2022139	\N	\N	EFO	4	EFO	natural killer cell	CD27-high, CD11b-low natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002349	"" []	3176652	\N	\N	EFO	5	EFO	lymphocyte	CD27-high, CD11b-low natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002349	"" []	4387258	\N	\N	EFO	6	EFO	leukocyte	CD27-high, CD11b-low natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002349	"" []	5408309	\N	\N	EFO	7	EFO	hematopoietic cell	CD27-high, CD11b-low natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002349	"" []	6147262	\N	\N	EFO	8	EFO	cell type	CD27-high, CD11b-low natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002349	"" []	6631764	\N	\N	EFO	9	EFO	material entity	CD27-high, CD11b-low natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002349	"" []	6925283	\N	\N	EFO	10	EFO	experimental factor	CD27-high, CD11b-low natural killer cell
CL:0002351	\N	\N	"A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 andIsl-1." []	CL:0002351	"A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 andIsl-1." []	63395	\N	\N	EFO	0	EFO	progenitor cell of endocrine pancreas	progenitor cell of endocrine pancreas
CL:0000048	CL:0002351	\N	"A stem cell that can give rise to multiple lineages of cells." []	CL:0002351	"A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 andIsl-1." []	203406	\N	\N	EFO	1	EFO	multipotent stem cell	progenitor cell of endocrine pancreas
EFO:0002966	CL:0002351	\N	"" []	CL:0002351	"A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 andIsl-1." []	203407	\N	\N	EFO	1	EFO	pancreatic cell	progenitor cell of endocrine pancreas
CL:0000034	CL:0000048	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0002351	"A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 andIsl-1." []	556397	\N	\N	EFO	2	EFO	stem cell	progenitor cell of endocrine pancreas
CL:0002371	CL:0000048	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002351	"A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 andIsl-1." []	556398	\N	\N	EFO	2	EFO	somatic cell	progenitor cell of endocrine pancreas
EFO:0000324	EFO:0002966	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002351	"A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 andIsl-1." []	556399	\N	\N	EFO	2	EFO	cell type	progenitor cell of endocrine pancreas
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002351	"A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 andIsl-1." []	1139082	\N	\N	EFO	3	EFO	material entity	progenitor cell of endocrine pancreas
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002351	"A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 andIsl-1." []	2022140	\N	\N	EFO	4	EFO	experimental factor	progenitor cell of endocrine pancreas
CL:0002352	\N	\N	"" []	CL:0002352	"" []	63396	\N	\N	EFO	0	EFO	gestational hematopoietic stem cell	gestational hematopoietic stem cell
CL:0000037	CL:0002352	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002352	"" []	203408	\N	\N	EFO	1	EFO	hematopoietic stem cell	gestational hematopoietic stem cell
CL:0000037	CL:0002352	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002352	"" []	203409	\N	\N	EFO	1	EFO	hematopoietic stem cell	gestational hematopoietic stem cell
CL:0000988	CL:0000037	\N	"A cell of a hematopoietic lineage." []	CL:0002352	"" []	556400	\N	\N	EFO	2	EFO	hematopoietic cell	gestational hematopoietic stem cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002352	"" []	1139083	\N	\N	EFO	3	EFO	cell type	gestational hematopoietic stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002352	"" []	2022141	\N	\N	EFO	4	EFO	material entity	gestational hematopoietic stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002352	"" []	3176653	\N	\N	EFO	5	EFO	experimental factor	gestational hematopoietic stem cell
CL:0002353	\N	\N	"A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." []	CL:0002353	"A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." []	63397	\N	\N	EFO	0	EFO	fetal liver hematopoietic progenitor cell	fetal liver hematopoietic progenitor cell
CL:0002321	CL:0002353	\N	"A cell of the embryo." []	CL:0002353	"A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." []	203410	\N	\N	EFO	1	EFO	embryonic cell	fetal liver hematopoietic progenitor cell
CL:0002352	CL:0002353	\N	"" []	CL:0002353	"A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." []	203411	\N	\N	EFO	1	EFO	gestational hematopoietic stem cell	fetal liver hematopoietic progenitor cell
CL:0002352	CL:0002353	\N	"" []	CL:0002353	"A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." []	203412	\N	\N	EFO	1	EFO	gestational hematopoietic stem cell	fetal liver hematopoietic progenitor cell
EFO:0000324	CL:0002321	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002353	"A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." []	556401	\N	\N	EFO	2	EFO	cell type	fetal liver hematopoietic progenitor cell
CL:0000037	CL:0002352	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002353	"A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." []	556402	\N	\N	EFO	2	EFO	hematopoietic stem cell	fetal liver hematopoietic progenitor cell
CL:0000037	CL:0002352	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002353	"A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." []	556403	\N	\N	EFO	2	EFO	hematopoietic stem cell	fetal liver hematopoietic progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002353	"A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." []	3176654	\N	\N	EFO	5	EFO	material entity	fetal liver hematopoietic progenitor cell
CL:0000988	CL:0000037	\N	"A cell of a hematopoietic lineage." []	CL:0002353	"A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." []	1139085	\N	\N	EFO	3	EFO	hematopoietic cell	fetal liver hematopoietic progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002353	"A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." []	4066658	\N	\N	EFO	6	EFO	experimental factor	fetal liver hematopoietic progenitor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002353	"A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative." []	2022143	\N	\N	EFO	4	EFO	cell type	fetal liver hematopoietic progenitor cell
CL:0002354	\N	\N	"" []	CL:0002354	"" []	63398	\N	\N	EFO	0	EFO	yolk sac hematopoietic stem cell	yolk sac hematopoietic stem cell
CL:0000066	CL:0002354	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0002354	"" []	203413	\N	\N	EFO	1	EFO	epithelial cell	yolk sac hematopoietic stem cell
CL:0002352	CL:0002354	\N	"" []	CL:0002354	"" []	203414	\N	\N	EFO	1	EFO	gestational hematopoietic stem cell	yolk sac hematopoietic stem cell
CL:0002352	CL:0002354	\N	"" []	CL:0002354	"" []	203415	\N	\N	EFO	1	EFO	gestational hematopoietic stem cell	yolk sac hematopoietic stem cell
CL:0000037	CL:0002352	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002354	"" []	556404	\N	\N	EFO	2	EFO	hematopoietic stem cell	yolk sac hematopoietic stem cell
CL:0000037	CL:0002352	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002354	"" []	556405	\N	\N	EFO	2	EFO	hematopoietic stem cell	yolk sac hematopoietic stem cell
CL:0000988	CL:0000037	\N	"A cell of a hematopoietic lineage." []	CL:0002354	"" []	1139086	\N	\N	EFO	3	EFO	hematopoietic cell	yolk sac hematopoietic stem cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002354	"" []	2022144	\N	\N	EFO	4	EFO	cell type	yolk sac hematopoietic stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002354	"" []	3176655	\N	\N	EFO	5	EFO	material entity	yolk sac hematopoietic stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002354	"" []	4387259	\N	\N	EFO	6	EFO	experimental factor	yolk sac hematopoietic stem cell
CL:0002355	\N	\N	"" []	CL:0002355	"" []	63399	\N	\N	EFO	0	EFO	primitive red blood cell	primitive red blood cell
CL:0002417	CL:0002355	\N	"" []	CL:0002355	"" []	203416	\N	\N	EFO	1	EFO	primitive erythroid lineage cell	primitive red blood cell
CL:0002417	CL:0002355	\N	"" []	CL:0002355	"" []	203417	\N	\N	EFO	1	EFO	primitive erythroid lineage cell	primitive red blood cell
CL:0000764	CL:0002417	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002355	"" []	556406	\N	\N	EFO	2	EFO	erythroid lineage cell	primitive red blood cell
CL:0000764	CL:0002417	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002355	"" []	556407	\N	\N	EFO	2	EFO	erythroid lineage cell	primitive red blood cell
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002355	"" []	1139087	\N	\N	EFO	3	EFO	myeloid cell	primitive red blood cell
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002355	"" []	1139088	\N	\N	EFO	3	EFO	myeloid cell	primitive red blood cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002355	"" []	2022145	\N	\N	EFO	4	EFO	hematopoietic cell	primitive red blood cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002355	"" []	2022146	\N	\N	EFO	4	EFO	hematopoietic cell	primitive red blood cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002355	"" []	3176656	\N	\N	EFO	5	EFO	cell type	primitive red blood cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002355	"" []	3176657	\N	\N	EFO	5	EFO	somatic cell	primitive red blood cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002355	"" []	4387260	\N	\N	EFO	6	EFO	material entity	primitive red blood cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002355	"" []	5408310	\N	\N	EFO	7	EFO	experimental factor	primitive red blood cell
CL:0002356	\N	\N	"" []	CL:0002356	"" []	63400	\N	\N	EFO	0	EFO	primitive reticulocyte	primitive reticulocyte
CL:0002417	CL:0002356	\N	"" []	CL:0002356	"" []	203418	\N	\N	EFO	1	EFO	primitive erythroid lineage cell	primitive reticulocyte
CL:0002417	CL:0002356	\N	"" []	CL:0002356	"" []	203419	\N	\N	EFO	1	EFO	primitive erythroid lineage cell	primitive reticulocyte
CL:0000764	CL:0002417	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002356	"" []	556408	\N	\N	EFO	2	EFO	erythroid lineage cell	primitive reticulocyte
CL:0000764	CL:0002417	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002356	"" []	556409	\N	\N	EFO	2	EFO	erythroid lineage cell	primitive reticulocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002356	"" []	1139089	\N	\N	EFO	3	EFO	myeloid cell	primitive reticulocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002356	"" []	1139090	\N	\N	EFO	3	EFO	myeloid cell	primitive reticulocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002356	"" []	2022147	\N	\N	EFO	4	EFO	hematopoietic cell	primitive reticulocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002356	"" []	2022148	\N	\N	EFO	4	EFO	hematopoietic cell	primitive reticulocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002356	"" []	3176658	\N	\N	EFO	5	EFO	cell type	primitive reticulocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002356	"" []	3176659	\N	\N	EFO	5	EFO	somatic cell	primitive reticulocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002356	"" []	4387261	\N	\N	EFO	6	EFO	material entity	primitive reticulocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002356	"" []	5408311	\N	\N	EFO	7	EFO	experimental factor	primitive reticulocyte
CL:0002357	\N	\N	"" []	CL:0002357	"" []	63401	\N	\N	EFO	0	EFO	fetal derived definitive erythrocyte	fetal derived definitive erythrocyte
CL:0000595	CL:0002357	\N	"" []	CL:0002357	"" []	203420	\N	\N	EFO	1	EFO	enucleate erythrocyte	fetal derived definitive erythrocyte
CL:0000595	CL:0002357	\N	"" []	CL:0002357	"" []	203421	\N	\N	EFO	1	EFO	enucleate erythrocyte	fetal derived definitive erythrocyte
CL:0000232	CL:0000595	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0002357	"" []	556410	\N	\N	EFO	2	EFO	erythrocyte	fetal derived definitive erythrocyte
CL:0000232	CL:0000595	\N	"Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood." []	CL:0002357	"" []	556411	\N	\N	EFO	2	EFO	erythrocyte	fetal derived definitive erythrocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002357	"" []	1139091	\N	\N	EFO	3	EFO	erythroid lineage cell	fetal derived definitive erythrocyte
CL:0000081	CL:0000232	\N	"A cell found predominately in the blood." []	CL:0002357	"" []	1139092	\N	\N	EFO	3	EFO	blood cell	fetal derived definitive erythrocyte
CL:0000764	CL:0000232	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002357	"" []	1139093	\N	\N	EFO	3	EFO	erythroid lineage cell	fetal derived definitive erythrocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002357	"" []	2022149	\N	\N	EFO	4	EFO	myeloid cell	fetal derived definitive erythrocyte
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	CL:0002357	"" []	2022150	\N	\N	EFO	4	EFO	hematopoietic cell	fetal derived definitive erythrocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002357	"" []	2022151	\N	\N	EFO	4	EFO	myeloid cell	fetal derived definitive erythrocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002357	"" []	3176660	\N	\N	EFO	5	EFO	hematopoietic cell	fetal derived definitive erythrocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002357	"" []	4387263	\N	\N	EFO	6	EFO	somatic cell	fetal derived definitive erythrocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002357	"" []	3176662	\N	\N	EFO	5	EFO	hematopoietic cell	fetal derived definitive erythrocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002357	"" []	4387262	\N	\N	EFO	6	EFO	cell type	fetal derived definitive erythrocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002357	"" []	5408312	\N	\N	EFO	7	EFO	material entity	fetal derived definitive erythrocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002357	"" []	6147263	\N	\N	EFO	8	EFO	experimental factor	fetal derived definitive erythrocyte
CL:0002358	\N	\N	"" []	CL:0002358	"" []	63402	\N	\N	EFO	0	EFO	pyrenocyte	pyrenocyte
CL:0002417	CL:0002358	\N	"" []	CL:0002358	"" []	203422	\N	\N	EFO	1	EFO	primitive erythroid lineage cell	pyrenocyte
CL:0002417	CL:0002358	\N	"" []	CL:0002358	"" []	203423	\N	\N	EFO	1	EFO	primitive erythroid lineage cell	pyrenocyte
CL:0000764	CL:0002417	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002358	"" []	556412	\N	\N	EFO	2	EFO	erythroid lineage cell	pyrenocyte
CL:0000764	CL:0002417	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002358	"" []	556413	\N	\N	EFO	2	EFO	erythroid lineage cell	pyrenocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002358	"" []	1139094	\N	\N	EFO	3	EFO	myeloid cell	pyrenocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002358	"" []	1139095	\N	\N	EFO	3	EFO	myeloid cell	pyrenocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002358	"" []	2022152	\N	\N	EFO	4	EFO	hematopoietic cell	pyrenocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002358	"" []	2022153	\N	\N	EFO	4	EFO	hematopoietic cell	pyrenocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002358	"" []	3176663	\N	\N	EFO	5	EFO	cell type	pyrenocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002358	"" []	3176664	\N	\N	EFO	5	EFO	somatic cell	pyrenocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002358	"" []	4387264	\N	\N	EFO	6	EFO	material entity	pyrenocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002358	"" []	5408313	\N	\N	EFO	7	EFO	experimental factor	pyrenocyte
CL:0002359	\N	\N	"" []	CL:0002359	"" []	63403	\N	\N	EFO	0	EFO	placental hematopoietic stem cell	placental hematopoietic stem cell
CL:0002352	CL:0002359	\N	"" []	CL:0002359	"" []	203424	\N	\N	EFO	1	EFO	gestational hematopoietic stem cell	placental hematopoietic stem cell
CL:0002352	CL:0002359	\N	"" []	CL:0002359	"" []	203425	\N	\N	EFO	1	EFO	gestational hematopoietic stem cell	placental hematopoietic stem cell
CL:0000037	CL:0002352	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002359	"" []	556414	\N	\N	EFO	2	EFO	hematopoietic stem cell	placental hematopoietic stem cell
CL:0000037	CL:0002352	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002359	"" []	556415	\N	\N	EFO	2	EFO	hematopoietic stem cell	placental hematopoietic stem cell
CL:0000988	CL:0000037	\N	"A cell of a hematopoietic lineage." []	CL:0002359	"" []	1139096	\N	\N	EFO	3	EFO	hematopoietic cell	placental hematopoietic stem cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002359	"" []	2022154	\N	\N	EFO	4	EFO	cell type	placental hematopoietic stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002359	"" []	3176665	\N	\N	EFO	5	EFO	material entity	placental hematopoietic stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002359	"" []	4387265	\N	\N	EFO	6	EFO	experimental factor	placental hematopoietic stem cell
CL:0002360	\N	\N	"" []	CL:0002360	"" []	63404	\N	\N	EFO	0	EFO	AGM hematopoietic stem cell	AGM hematopoietic stem cell
CL:0002352	CL:0002360	\N	"" []	CL:0002360	"" []	203426	\N	\N	EFO	1	EFO	gestational hematopoietic stem cell	AGM hematopoietic stem cell
CL:0002352	CL:0002360	\N	"" []	CL:0002360	"" []	203427	\N	\N	EFO	1	EFO	gestational hematopoietic stem cell	AGM hematopoietic stem cell
CL:0000037	CL:0002352	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002360	"" []	556416	\N	\N	EFO	2	EFO	hematopoietic stem cell	AGM hematopoietic stem cell
CL:0000037	CL:0002352	\N	"A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76." []	CL:0002360	"" []	556417	\N	\N	EFO	2	EFO	hematopoietic stem cell	AGM hematopoietic stem cell
CL:0000988	CL:0000037	\N	"A cell of a hematopoietic lineage." []	CL:0002360	"" []	1139097	\N	\N	EFO	3	EFO	hematopoietic cell	AGM hematopoietic stem cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002360	"" []	2022155	\N	\N	EFO	4	EFO	cell type	AGM hematopoietic stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002360	"" []	3176666	\N	\N	EFO	5	EFO	material entity	AGM hematopoietic stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002360	"" []	4387266	\N	\N	EFO	6	EFO	experimental factor	AGM hematopoietic stem cell
CL:0002361	\N	\N	"" []	CL:0002361	"" []	63405	\N	\N	EFO	0	EFO	primitive erythroid progenitor	primitive erythroid progenitor
CL:0002417	CL:0002361	\N	"" []	CL:0002361	"" []	203428	\N	\N	EFO	1	EFO	primitive erythroid lineage cell	primitive erythroid progenitor
CL:0002417	CL:0002361	\N	"" []	CL:0002361	"" []	203429	\N	\N	EFO	1	EFO	primitive erythroid lineage cell	primitive erythroid progenitor
CL:0000764	CL:0002417	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002361	"" []	556418	\N	\N	EFO	2	EFO	erythroid lineage cell	primitive erythroid progenitor
CL:0000764	CL:0002417	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002361	"" []	556419	\N	\N	EFO	2	EFO	erythroid lineage cell	primitive erythroid progenitor
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002361	"" []	1139098	\N	\N	EFO	3	EFO	myeloid cell	primitive erythroid progenitor
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002361	"" []	1139099	\N	\N	EFO	3	EFO	myeloid cell	primitive erythroid progenitor
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002361	"" []	2022156	\N	\N	EFO	4	EFO	hematopoietic cell	primitive erythroid progenitor
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002361	"" []	2022157	\N	\N	EFO	4	EFO	hematopoietic cell	primitive erythroid progenitor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002361	"" []	3176667	\N	\N	EFO	5	EFO	cell type	primitive erythroid progenitor
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002361	"" []	3176668	\N	\N	EFO	5	EFO	somatic cell	primitive erythroid progenitor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002361	"" []	4387267	\N	\N	EFO	6	EFO	material entity	primitive erythroid progenitor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002361	"" []	5408314	\N	\N	EFO	7	EFO	experimental factor	primitive erythroid progenitor
CL:0002363	\N	\N	"A keratocyte is a specialized fibroblastresiding in thestroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. Thiscorneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components.  This cell type secretes collagen I, V, VI, and keratin sulfate." []	CL:0002363	"A keratocyte is a specialized fibroblastresiding in thestroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. Thiscorneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components.  This cell type secretes collagen I, V, VI, and keratin sulfate." []	63406	\N	\N	EFO	0	EFO	keratocyte	keratocyte
CL:0000005	\N	\N	"" []	CL:0002363	"A keratocyte is a specialized fibroblastresiding in thestroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. Thiscorneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components.  This cell type secretes collagen I, V, VI, and keratin sulfate." []	194244	\N	\N	EFO	0	EFO	fibroblast neural crest derived	keratocyte
CL:0000057	CL:0002363	\N	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	CL:0002363	"A keratocyte is a specialized fibroblastresiding in thestroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. Thiscorneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components.  This cell type secretes collagen I, V, VI, and keratin sulfate." []	203430	\N	\N	EFO	1	EFO	fibroblast	keratocyte
EFO:0000324	CL:0000057	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002363	"A keratocyte is a specialized fibroblastresiding in thestroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. Thiscorneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components.  This cell type secretes collagen I, V, VI, and keratin sulfate." []	556420	\N	\N	EFO	2	EFO	cell type	keratocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002363	"A keratocyte is a specialized fibroblastresiding in thestroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. Thiscorneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components.  This cell type secretes collagen I, V, VI, and keratin sulfate." []	1139100	\N	\N	EFO	3	EFO	material entity	keratocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002363	"A keratocyte is a specialized fibroblastresiding in thestroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. Thiscorneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components.  This cell type secretes collagen I, V, VI, and keratin sulfate." []	2022158	\N	\N	EFO	4	EFO	experimental factor	keratocyte
CL:0002364	\N	\N	"An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. [ PMID:18403190 GOC:tfm ] " []	CL:0002364	"An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. [ PMID:18403190 GOC:tfm ] " []	63407	\N	\N	EFO	0	EFO	cortical thymic epithelial cell	cortical thymic epithelial cell
CL:0002293	\N	\N	"An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies." [FMA:72208, GOC:tfm]	CL:0002364	"An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. [ PMID:18403190 GOC:tfm ] " []	194245	\N	\N	EFO	0	EFO	epithelial cell of thymus	cortical thymic epithelial cell
CL:0000066	CL:0002364	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0002364	"An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. [ PMID:18403190 GOC:tfm ] " []	203431	\N	\N	EFO	1	EFO	epithelial cell	cortical thymic epithelial cell
UBERON:6007435	CL:0002364	\N	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	CL:0002364	"An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. [ PMID:18403190 GOC:tfm ] " []	203432	\N	\N	EFO	1	EFO	endocrine system component	cortical thymic epithelial cell
EFO:0000324	CL:0000066	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002364	"An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. [ PMID:18403190 GOC:tfm ] " []	556421	\N	\N	EFO	2	EFO	cell type	cortical thymic epithelial cell
EFO:0000787	UBERON:6007435	\N	"" []	CL:0002364	"An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. [ PMID:18403190 GOC:tfm ] " []	556422	\N	\N	EFO	2	EFO	animal component	cortical thymic epithelial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002364	"An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. [ PMID:18403190 GOC:tfm ] " []	1139101	\N	\N	EFO	3	EFO	material entity	cortical thymic epithelial cell
EFO:0000786	EFO:0000787	\N	"" []	CL:0002364	"An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. [ PMID:18403190 GOC:tfm ] " []	1139102	\N	\N	EFO	3	EFO	anatomy basic component	cortical thymic epithelial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002364	"An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. [ PMID:18403190 GOC:tfm ] " []	4387268	\N	\N	EFO	6	EFO	experimental factor	cortical thymic epithelial cell
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CL:0002364	"An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. [ PMID:18403190 GOC:tfm ] " []	2022160	\N	\N	EFO	4	EFO	organism part	cortical thymic epithelial cell
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002364	"An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. [ PMID:18403190 GOC:tfm ] " []	3176669	\N	\N	EFO	5	EFO	material entity	cortical thymic epithelial cell
CL:0002365	\N	\N	"An epithelial cell of the medullary thymus. This cell type  expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output." []	CL:0002365	"An epithelial cell of the medullary thymus. This cell type  expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output." []	63408	\N	\N	EFO	0	EFO	medullary thymic epithelial cell	medullary thymic epithelial cell
CL:0002293	\N	\N	"An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies." [FMA:72208, GOC:tfm]	CL:0002365	"An epithelial cell of the medullary thymus. This cell type  expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output." []	194246	\N	\N	EFO	0	EFO	epithelial cell of thymus	medullary thymic epithelial cell
EFO:0000324	CL:0002365	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002365	"An epithelial cell of the medullary thymus. This cell type  expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output." []	203433	\N	\N	EFO	1	EFO	cell type	medullary thymic epithelial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002365	"An epithelial cell of the medullary thymus. This cell type  expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output." []	556423	\N	\N	EFO	2	EFO	material entity	medullary thymic epithelial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002365	"An epithelial cell of the medullary thymus. This cell type  expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output." []	1139103	\N	\N	EFO	3	EFO	experimental factor	medullary thymic epithelial cell
CL:0002368	\N	\N	"Epithelium of the respiratory portion of the bronchial tree." []	CL:0002368	"Epithelium of the respiratory portion of the bronchial tree." []	63409	\N	\N	EFO	0	EFO	respiratory epithelial cell	respiratory epithelial cell
CL:0002076	\N	\N	"An epithelial cell derived from endoderm." [FMA:69075, GOC:tfm]	CL:0002368	"Epithelium of the respiratory portion of the bronchial tree." []	194247	\N	\N	EFO	0	EFO	endo-epithelial cell	respiratory epithelial cell
CL:0000066	CL:0002368	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:0002368	"Epithelium of the respiratory portion of the bronchial tree." []	203434	\N	\N	EFO	1	EFO	epithelial cell	respiratory epithelial cell
EFO:0000324	CL:0000066	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002368	"Epithelium of the respiratory portion of the bronchial tree." []	556424	\N	\N	EFO	2	EFO	cell type	respiratory epithelial cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002368	"Epithelium of the respiratory portion of the bronchial tree." []	1139104	\N	\N	EFO	3	EFO	material entity	respiratory epithelial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002368	"Epithelium of the respiratory portion of the bronchial tree." []	2022161	\N	\N	EFO	4	EFO	experimental factor	respiratory epithelial cell
CL:0002371	\N	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002371	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	63410	\N	\N	EFO	0	EFO	somatic cell	somatic cell
CL:0000003	\N	\N	"A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment)." [CARO:mah]	CL:0002371	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	194248	\N	ubprop_upper_level	EFO	0	EFO	native cell	somatic cell
EFO:0000324	CL:0002371	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002371	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	203435	\N	\N	EFO	1	EFO	cell type	somatic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002371	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	556425	\N	\N	EFO	2	EFO	material entity	somatic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002371	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	1139105	\N	\N	EFO	3	EFO	experimental factor	somatic cell
CL:0002378	\N	\N	"" []	CL:0002378	"" []	63411	\N	\N	EFO	0	EFO	immature Vgamma2-positive fetal thymocyte	immature Vgamma2-positive fetal thymocyte
CL:0002404	CL:0002378	\N	"" []	CL:0002378	"" []	203436	\N	\N	EFO	1	EFO	fetal thymocyte	immature Vgamma2-positive fetal thymocyte
CL:0002404	CL:0002378	\N	"" []	CL:0002378	"" []	203437	\N	\N	EFO	1	EFO	fetal thymocyte	immature Vgamma2-positive fetal thymocyte
CL:0000893	CL:0002404	\N	"An immature T cell located in the thymus." []	CL:0002378	"" []	556426	\N	\N	EFO	2	EFO	thymocyte	immature Vgamma2-positive fetal thymocyte
CL:0000893	CL:0002404	\N	"An immature T cell located in the thymus." []	CL:0002378	"" []	556427	\N	\N	EFO	2	EFO	thymocyte	immature Vgamma2-positive fetal thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002378	"" []	1139106	\N	\N	EFO	3	EFO	immature T cell	immature Vgamma2-positive fetal thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002378	"" []	1139107	\N	\N	EFO	3	EFO	immature T cell	immature Vgamma2-positive fetal thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002378	"" []	2022162	\N	\N	EFO	4	EFO	T cell	immature Vgamma2-positive fetal thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002378	"" []	2022163	\N	\N	EFO	4	EFO	T cell	immature Vgamma2-positive fetal thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002378	"" []	3176670	\N	\N	EFO	5	EFO	lymphocyte	immature Vgamma2-positive fetal thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002378	"" []	3176671	\N	\N	EFO	5	EFO	lymphocyte	immature Vgamma2-positive fetal thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002378	"" []	4387269	\N	\N	EFO	6	EFO	leukocyte	immature Vgamma2-positive fetal thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002378	"" []	4387270	\N	\N	EFO	6	EFO	nongranular leukocyte	immature Vgamma2-positive fetal thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002378	"" []	5408315	\N	\N	EFO	7	EFO	hematopoietic cell	immature Vgamma2-positive fetal thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002378	"" []	5408316	\N	\N	EFO	7	EFO	leukocyte	immature Vgamma2-positive fetal thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002378	"" []	6147264	\N	\N	EFO	8	EFO	cell type	immature Vgamma2-positive fetal thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002378	"" []	6147265	\N	\N	EFO	8	EFO	hematopoietic cell	immature Vgamma2-positive fetal thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002378	"" []	6631765	\N	\N	EFO	9	EFO	material entity	immature Vgamma2-positive fetal thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002378	"" []	6631766	\N	\N	EFO	9	EFO	somatic cell	immature Vgamma2-positive fetal thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002378	"" []	6925284	\N	\N	EFO	10	EFO	experimental factor	immature Vgamma2-positive fetal thymocyte
CL:0002393	\N	\N	"" []	CL:0002393	"" []	63412	\N	\N	EFO	0	EFO	intermediate monocyte	intermediate monocyte
CL:0000576	CL:0002393	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002393	"" []	203438	\N	\N	EFO	1	EFO	monocyte	intermediate monocyte
CL:0000576	CL:0002393	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002393	"" []	203439	\N	\N	EFO	1	EFO	monocyte	intermediate monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002393	"" []	556428	\N	\N	EFO	2	EFO	myeloid leukocyte	intermediate monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002393	"" []	556429	\N	\N	EFO	2	EFO	myeloid leukocyte	intermediate monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002393	"" []	556430	\N	\N	EFO	2	EFO	mononuclear cell	intermediate monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002393	"" []	1139108	\N	\N	EFO	3	EFO	leukocyte	intermediate monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002393	"" []	1139109	\N	\N	EFO	3	EFO	leukocyte	intermediate monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002393	"" []	1139110	\N	\N	EFO	3	EFO	myeloid cell	intermediate monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002393	"" []	1139111	\N	\N	EFO	3	EFO	nongranular leukocyte	intermediate monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002393	"" []	2022164	\N	\N	EFO	4	EFO	hematopoietic cell	intermediate monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002393	"" []	3176674	\N	\N	EFO	5	EFO	hematopoietic cell	intermediate monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002393	"" []	2022166	\N	\N	EFO	4	EFO	hematopoietic cell	intermediate monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002393	"" []	2022167	\N	\N	EFO	4	EFO	leukocyte	intermediate monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002393	"" []	3176672	\N	\N	EFO	5	EFO	cell type	intermediate monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002393	"" []	4132471	\N	\N	EFO	6	EFO	somatic cell	intermediate monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002393	"" []	4387271	\N	\N	EFO	6	EFO	material entity	intermediate monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002393	"" []	5408317	\N	\N	EFO	7	EFO	experimental factor	intermediate monocyte
CL:0002394	\N	\N	"" []	CL:0002394	"" []	63413	\N	\N	EFO	0	EFO	CD141-positive myeloid dendritic cell	CD141-positive myeloid dendritic cell
CL:0000782	CL:0002394	\N	"" []	CL:0002394	"" []	203440	\N	\N	EFO	1	EFO	myeloid dendritic cell	CD141-positive myeloid dendritic cell
CL:0000782	CL:0002394	\N	"" []	CL:0002394	"" []	203441	\N	\N	EFO	1	EFO	myeloid dendritic cell	CD141-positive myeloid dendritic cell
CL:0000784	CL:0002394	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0002394	"" []	203442	\N	\N	EFO	1	EFO	plasmacytoid dendritic cell	CD141-positive myeloid dendritic cell
CL:0000990	CL:0000782	\N	"" []	CL:0002394	"" []	556431	\N	\N	EFO	2	EFO	conventional dendritic cell	CD141-positive myeloid dendritic cell
CL:0000766	CL:0000782	\N	"" []	CL:0002394	"" []	556432	\N	\N	EFO	2	EFO	myeloid leukocyte	CD141-positive myeloid dendritic cell
CL:0000990	CL:0000782	\N	"" []	CL:0002394	"" []	556433	\N	\N	EFO	2	EFO	conventional dendritic cell	CD141-positive myeloid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002394	"" []	556434	\N	\N	EFO	2	EFO	dendritic cell	CD141-positive myeloid dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002394	"" []	1139112	\N	\N	EFO	3	EFO	dendritic cell	CD141-positive myeloid dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002394	"" []	1139113	\N	\N	EFO	3	EFO	leukocyte	CD141-positive myeloid dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002394	"" []	1139114	\N	\N	EFO	3	EFO	myeloid cell	CD141-positive myeloid dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002394	"" []	1139115	\N	\N	EFO	3	EFO	dendritic cell	CD141-positive myeloid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002394	"" []	2022171	\N	\N	EFO	4	EFO	leukocyte	CD141-positive myeloid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002394	"" []	2022168	\N	\N	EFO	4	EFO	leukocyte	CD141-positive myeloid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002394	"" []	2999209	\N	\N	EFO	5	EFO	hematopoietic cell	CD141-positive myeloid dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002394	"" []	2022170	\N	\N	EFO	4	EFO	hematopoietic cell	CD141-positive myeloid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002394	"" []	3176675	\N	\N	EFO	5	EFO	hematopoietic cell	CD141-positive myeloid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002394	"" []	4132472	\N	\N	EFO	6	EFO	somatic cell	CD141-positive myeloid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002394	"" []	4387272	\N	\N	EFO	6	EFO	cell type	CD141-positive myeloid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002394	"" []	5408318	\N	\N	EFO	7	EFO	material entity	CD141-positive myeloid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002394	"" []	6147266	\N	\N	EFO	8	EFO	experimental factor	CD141-positive myeloid dendritic cell
CL:0002395	\N	\N	"" []	CL:0002395	"" []	63414	\N	\N	EFO	0	EFO	Gr1-high classical monocyte	Gr1-high classical monocyte
CL:0000860	CL:0002395	\N	"" []	CL:0002395	"" []	203443	\N	\N	EFO	1	EFO	classical monocyte	Gr1-high classical monocyte
CL:0000860	CL:0002395	\N	"" []	CL:0002395	"" []	203444	\N	\N	EFO	1	EFO	classical monocyte	Gr1-high classical monocyte
CL:0001022	CL:0002395	\N	"" []	CL:0002395	"" []	203445	\N	\N	EFO	1	EFO	CD115-positive monocyte	Gr1-high classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002395	"" []	556435	\N	\N	EFO	2	EFO	monocyte	Gr1-high classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002395	"" []	556436	\N	\N	EFO	2	EFO	monocyte	Gr1-high classical monocyte
CL:0000576	CL:0001022	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002395	"" []	556437	\N	\N	EFO	2	EFO	monocyte	Gr1-high classical monocyte
CL:0000839	CL:0001022	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002395	"" []	556438	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	Gr1-high classical monocyte
CL:0001019	CL:0001022	\N	"" []	CL:0002395	"" []	556439	\N	\N	EFO	2	EFO	CD115-positive monocyte OR common dendritic progenitor	Gr1-high classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002395	"" []	1139117	\N	\N	EFO	3	EFO	myeloid leukocyte	Gr1-high classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002395	"" []	1139118	\N	\N	EFO	3	EFO	myeloid leukocyte	Gr1-high classical monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002395	"" []	1139119	\N	\N	EFO	3	EFO	mononuclear cell	Gr1-high classical monocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002395	"" []	1139120	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Gr1-high classical monocyte
CL:0002031	CL:0001019	\N	"" []	CL:0002395	"" []	1139121	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Gr1-high classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002395	"" []	2022172	\N	\N	EFO	4	EFO	leukocyte	Gr1-high classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002395	"" []	2022173	\N	\N	EFO	4	EFO	leukocyte	Gr1-high classical monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002395	"" []	2022174	\N	\N	EFO	4	EFO	myeloid cell	Gr1-high classical monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002395	"" []	2022175	\N	\N	EFO	4	EFO	nongranular leukocyte	Gr1-high classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002395	"" []	3176677	\N	\N	EFO	5	EFO	hematopoietic cell	Gr1-high classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002395	"" []	4387275	\N	\N	EFO	6	EFO	hematopoietic cell	Gr1-high classical monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002395	"" []	3176679	\N	\N	EFO	5	EFO	hematopoietic cell	Gr1-high classical monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002395	"" []	3176680	\N	\N	EFO	5	EFO	leukocyte	Gr1-high classical monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002395	"" []	4387273	\N	\N	EFO	6	EFO	cell type	Gr1-high classical monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002395	"" []	5180835	\N	\N	EFO	7	EFO	somatic cell	Gr1-high classical monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002395	"" []	5408319	\N	\N	EFO	7	EFO	material entity	Gr1-high classical monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002395	"" []	6147267	\N	\N	EFO	8	EFO	experimental factor	Gr1-high classical monocyte
CL:0002396	\N	\N	"" []	CL:0002396	"" []	63415	\N	\N	EFO	0	EFO	CD14-low, CD16-positive monocyte	CD14-low, CD16-positive monocyte
CL:0000875	CL:0002396	\N	"" []	CL:0002396	"" []	203446	\N	\N	EFO	1	EFO	non-classical monocyte	CD14-low, CD16-positive monocyte
CL:0000875	CL:0002396	\N	"" []	CL:0002396	"" []	203447	\N	\N	EFO	1	EFO	non-classical monocyte	CD14-low, CD16-positive monocyte
CL:0002397	CL:0002396	\N	"" []	CL:0002396	"" []	203448	\N	\N	EFO	1	EFO	CD14-positive, CD16-positive monocyte	CD14-low, CD16-positive monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002396	"" []	556440	\N	\N	EFO	2	EFO	monocyte	CD14-low, CD16-positive monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002396	"" []	556441	\N	\N	EFO	2	EFO	monocyte	CD14-low, CD16-positive monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002396	"" []	1139122	\N	\N	EFO	3	EFO	myeloid leukocyte	CD14-low, CD16-positive monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002396	"" []	1139123	\N	\N	EFO	3	EFO	myeloid leukocyte	CD14-low, CD16-positive monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002396	"" []	1139124	\N	\N	EFO	3	EFO	mononuclear cell	CD14-low, CD16-positive monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002396	"" []	2022176	\N	\N	EFO	4	EFO	leukocyte	CD14-low, CD16-positive monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002396	"" []	2022177	\N	\N	EFO	4	EFO	leukocyte	CD14-low, CD16-positive monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002396	"" []	2022178	\N	\N	EFO	4	EFO	myeloid cell	CD14-low, CD16-positive monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002396	"" []	2022179	\N	\N	EFO	4	EFO	nongranular leukocyte	CD14-low, CD16-positive monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002396	"" []	3176681	\N	\N	EFO	5	EFO	hematopoietic cell	CD14-low, CD16-positive monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002396	"" []	4387278	\N	\N	EFO	6	EFO	hematopoietic cell	CD14-low, CD16-positive monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002396	"" []	3176683	\N	\N	EFO	5	EFO	hematopoietic cell	CD14-low, CD16-positive monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002396	"" []	3176684	\N	\N	EFO	5	EFO	leukocyte	CD14-low, CD16-positive monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002396	"" []	4387276	\N	\N	EFO	6	EFO	cell type	CD14-low, CD16-positive monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002396	"" []	5180836	\N	\N	EFO	7	EFO	somatic cell	CD14-low, CD16-positive monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002396	"" []	5408320	\N	\N	EFO	7	EFO	material entity	CD14-low, CD16-positive monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002396	"" []	6147268	\N	\N	EFO	8	EFO	experimental factor	CD14-low, CD16-positive monocyte
CL:0002397	\N	\N	"" []	CL:0002397	"" []	63416	\N	\N	EFO	0	EFO	CD14-positive, CD16-positive monocyte	CD14-positive, CD16-positive monocyte
CL:0001054	\N	\N	"A monocyte that expresses CD14 and is negative for the lineage markers CD3, CD19, and CD20." [GOC:add, PMID:22343568]	CL:0002397	"" []	194249	\N	\N	EFO	0	EFO	CD14-positive monocyte	CD14-positive, CD16-positive monocyte
CL:0002393	CL:0002397	\N	"" []	CL:0002397	"" []	203449	\N	\N	EFO	1	EFO	intermediate monocyte	CD14-positive, CD16-positive monocyte
CL:0000576	CL:0002393	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002397	"" []	556442	\N	\N	EFO	2	EFO	monocyte	CD14-positive, CD16-positive monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002397	"" []	1139125	\N	\N	EFO	3	EFO	myeloid leukocyte	CD14-positive, CD16-positive monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002397	"" []	2022180	\N	\N	EFO	4	EFO	leukocyte	CD14-positive, CD16-positive monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002397	"" []	3176685	\N	\N	EFO	5	EFO	hematopoietic cell	CD14-positive, CD16-positive monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002397	"" []	4387279	\N	\N	EFO	6	EFO	cell type	CD14-positive, CD16-positive monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002397	"" []	5408321	\N	\N	EFO	7	EFO	material entity	CD14-positive, CD16-positive monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002397	"" []	6147269	\N	\N	EFO	8	EFO	experimental factor	CD14-positive, CD16-positive monocyte
CL:0002398	\N	\N	"" []	CL:0002398	"" []	63417	\N	\N	EFO	0	EFO	Gr1-positive, CD43-positive monocyte	Gr1-positive, CD43-positive monocyte
CL:0001022	CL:0002398	\N	"" []	CL:0002398	"" []	203450	\N	\N	EFO	1	EFO	CD115-positive monocyte	Gr1-positive, CD43-positive monocyte
CL:0002393	CL:0002398	\N	"" []	CL:0002398	"" []	203451	\N	\N	EFO	1	EFO	intermediate monocyte	Gr1-positive, CD43-positive monocyte
CL:0002393	CL:0002398	\N	"" []	CL:0002398	"" []	203452	\N	\N	EFO	1	EFO	intermediate monocyte	Gr1-positive, CD43-positive monocyte
CL:0000576	CL:0001022	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002398	"" []	556443	\N	\N	EFO	2	EFO	monocyte	Gr1-positive, CD43-positive monocyte
CL:0000839	CL:0001022	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002398	"" []	556444	\N	\N	EFO	2	EFO	myeloid lineage restricted progenitor cell	Gr1-positive, CD43-positive monocyte
CL:0001019	CL:0001022	\N	"" []	CL:0002398	"" []	556445	\N	\N	EFO	2	EFO	CD115-positive monocyte OR common dendritic progenitor	Gr1-positive, CD43-positive monocyte
CL:0000576	CL:0002393	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002398	"" []	556446	\N	\N	EFO	2	EFO	monocyte	Gr1-positive, CD43-positive monocyte
CL:0000576	CL:0002393	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002398	"" []	556447	\N	\N	EFO	2	EFO	monocyte	Gr1-positive, CD43-positive monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002398	"" []	1139126	\N	\N	EFO	3	EFO	myeloid leukocyte	Gr1-positive, CD43-positive monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002398	"" []	1139127	\N	\N	EFO	3	EFO	mononuclear cell	Gr1-positive, CD43-positive monocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002398	"" []	1139128	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Gr1-positive, CD43-positive monocyte
CL:0002031	CL:0001019	\N	"" []	CL:0002398	"" []	1139129	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	Gr1-positive, CD43-positive monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002398	"" []	1139130	\N	\N	EFO	3	EFO	myeloid leukocyte	Gr1-positive, CD43-positive monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002398	"" []	2022181	\N	\N	EFO	4	EFO	leukocyte	Gr1-positive, CD43-positive monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002398	"" []	2022182	\N	\N	EFO	4	EFO	myeloid cell	Gr1-positive, CD43-positive monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002398	"" []	2022183	\N	\N	EFO	4	EFO	nongranular leukocyte	Gr1-positive, CD43-positive monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002398	"" []	2022184	\N	\N	EFO	4	EFO	leukocyte	Gr1-positive, CD43-positive monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002398	"" []	4387281	\N	\N	EFO	6	EFO	hematopoietic cell	Gr1-positive, CD43-positive monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002398	"" []	3176687	\N	\N	EFO	5	EFO	hematopoietic cell	Gr1-positive, CD43-positive monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002398	"" []	3176688	\N	\N	EFO	5	EFO	leukocyte	Gr1-positive, CD43-positive monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002398	"" []	3176689	\N	\N	EFO	5	EFO	hematopoietic cell	Gr1-positive, CD43-positive monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002398	"" []	5180837	\N	\N	EFO	7	EFO	somatic cell	Gr1-positive, CD43-positive monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002398	"" []	4387282	\N	\N	EFO	6	EFO	cell type	Gr1-positive, CD43-positive monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002398	"" []	5408322	\N	\N	EFO	7	EFO	material entity	Gr1-positive, CD43-positive monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002398	"" []	6147270	\N	\N	EFO	8	EFO	experimental factor	Gr1-positive, CD43-positive monocyte
CL:0002399	\N	\N	"" []	CL:0002399	"" []	63418	\N	\N	EFO	0	EFO	CD1c-positive myeloid dendritic cell	CD1c-positive myeloid dendritic cell
CL:0000782	CL:0002399	\N	"" []	CL:0002399	"" []	203453	\N	\N	EFO	1	EFO	myeloid dendritic cell	CD1c-positive myeloid dendritic cell
CL:0000782	CL:0002399	\N	"" []	CL:0002399	"" []	203454	\N	\N	EFO	1	EFO	myeloid dendritic cell	CD1c-positive myeloid dendritic cell
CL:0000990	CL:0000782	\N	"" []	CL:0002399	"" []	556448	\N	\N	EFO	2	EFO	conventional dendritic cell	CD1c-positive myeloid dendritic cell
CL:0000766	CL:0000782	\N	"" []	CL:0002399	"" []	556449	\N	\N	EFO	2	EFO	myeloid leukocyte	CD1c-positive myeloid dendritic cell
CL:0000990	CL:0000782	\N	"" []	CL:0002399	"" []	556450	\N	\N	EFO	2	EFO	conventional dendritic cell	CD1c-positive myeloid dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002399	"" []	1139131	\N	\N	EFO	3	EFO	dendritic cell	CD1c-positive myeloid dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002399	"" []	1139132	\N	\N	EFO	3	EFO	leukocyte	CD1c-positive myeloid dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002399	"" []	1139133	\N	\N	EFO	3	EFO	myeloid cell	CD1c-positive myeloid dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002399	"" []	1139134	\N	\N	EFO	3	EFO	dendritic cell	CD1c-positive myeloid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002399	"" []	2022185	\N	\N	EFO	4	EFO	leukocyte	CD1c-positive myeloid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002399	"" []	3176692	\N	\N	EFO	5	EFO	hematopoietic cell	CD1c-positive myeloid dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002399	"" []	2022187	\N	\N	EFO	4	EFO	hematopoietic cell	CD1c-positive myeloid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002399	"" []	2022188	\N	\N	EFO	4	EFO	leukocyte	CD1c-positive myeloid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002399	"" []	3176690	\N	\N	EFO	5	EFO	hematopoietic cell	CD1c-positive myeloid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002399	"" []	4132473	\N	\N	EFO	6	EFO	somatic cell	CD1c-positive myeloid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002399	"" []	4387283	\N	\N	EFO	6	EFO	cell type	CD1c-positive myeloid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002399	"" []	5408323	\N	\N	EFO	7	EFO	material entity	CD1c-positive myeloid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002399	"" []	6147271	\N	\N	EFO	8	EFO	experimental factor	CD1c-positive myeloid dendritic cell
CL:0002400	\N	\N	"" []	CL:0002400	"" []	63419	\N	\N	EFO	0	EFO	Fraction B/C precursor B cell	Fraction B/C precursor B cell
CL:0000817	CL:0002400	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002400	"" []	203455	\N	\N	EFO	1	EFO	precursor B cell	Fraction B/C precursor B cell
CL:0000817	CL:0002400	\N	"A precursor B cell is a B cell with the phenotype CD10-positive." []	CL:0002400	"" []	203456	\N	\N	EFO	1	EFO	precursor B cell	Fraction B/C precursor B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002400	"" []	556451	\N	\N	EFO	2	EFO	B cell	Fraction B/C precursor B cell
CL:0000236	CL:0000817	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002400	"" []	556452	\N	\N	EFO	2	EFO	B cell	Fraction B/C precursor B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002400	"" []	1139135	\N	\N	EFO	3	EFO	lymphocyte of B lineage	Fraction B/C precursor B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002400	"" []	1139136	\N	\N	EFO	3	EFO	lymphocyte of B lineage	Fraction B/C precursor B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002400	"" []	2022189	\N	\N	EFO	4	EFO	lymphocyte	Fraction B/C precursor B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002400	"" []	2022190	\N	\N	EFO	4	EFO	lymphocyte	Fraction B/C precursor B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002400	"" []	3176693	\N	\N	EFO	5	EFO	leukocyte	Fraction B/C precursor B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002400	"" []	3176694	\N	\N	EFO	5	EFO	nongranular leukocyte	Fraction B/C precursor B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002400	"" []	4387284	\N	\N	EFO	6	EFO	hematopoietic cell	Fraction B/C precursor B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002400	"" []	4387285	\N	\N	EFO	6	EFO	leukocyte	Fraction B/C precursor B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002400	"" []	5408324	\N	\N	EFO	7	EFO	cell type	Fraction B/C precursor B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002400	"" []	5408325	\N	\N	EFO	7	EFO	hematopoietic cell	Fraction B/C precursor B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002400	"" []	6147272	\N	\N	EFO	8	EFO	material entity	Fraction B/C precursor B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002400	"" []	6147273	\N	\N	EFO	8	EFO	somatic cell	Fraction B/C precursor B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002400	"" []	6631767	\N	\N	EFO	9	EFO	experimental factor	Fraction B/C precursor B cell
CL:0002401	\N	\N	"" []	CL:0002401	"" []	63420	\N	\N	EFO	0	EFO	mature dendritic epithelial T cell precursor	mature dendritic epithelial T cell precursor
CL:0002404	CL:0002401	\N	"" []	CL:0002401	"" []	203457	\N	\N	EFO	1	EFO	fetal thymocyte	mature dendritic epithelial T cell precursor
CL:0002404	CL:0002401	\N	"" []	CL:0002401	"" []	203458	\N	\N	EFO	1	EFO	fetal thymocyte	mature dendritic epithelial T cell precursor
CL:0000893	CL:0002404	\N	"An immature T cell located in the thymus." []	CL:0002401	"" []	556453	\N	\N	EFO	2	EFO	thymocyte	mature dendritic epithelial T cell precursor
CL:0000893	CL:0002404	\N	"An immature T cell located in the thymus." []	CL:0002401	"" []	556454	\N	\N	EFO	2	EFO	thymocyte	mature dendritic epithelial T cell precursor
CL:0002420	CL:0000893	\N	"" []	CL:0002401	"" []	1139137	\N	\N	EFO	3	EFO	immature T cell	mature dendritic epithelial T cell precursor
CL:0002420	CL:0000893	\N	"" []	CL:0002401	"" []	1139138	\N	\N	EFO	3	EFO	immature T cell	mature dendritic epithelial T cell precursor
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002401	"" []	2022191	\N	\N	EFO	4	EFO	T cell	mature dendritic epithelial T cell precursor
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002401	"" []	2022192	\N	\N	EFO	4	EFO	T cell	mature dendritic epithelial T cell precursor
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002401	"" []	3176695	\N	\N	EFO	5	EFO	lymphocyte	mature dendritic epithelial T cell precursor
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002401	"" []	3176696	\N	\N	EFO	5	EFO	lymphocyte	mature dendritic epithelial T cell precursor
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002401	"" []	4387286	\N	\N	EFO	6	EFO	leukocyte	mature dendritic epithelial T cell precursor
CL:0002087	CL:0000542	\N	"" []	CL:0002401	"" []	4387287	\N	\N	EFO	6	EFO	nongranular leukocyte	mature dendritic epithelial T cell precursor
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002401	"" []	5408326	\N	\N	EFO	7	EFO	hematopoietic cell	mature dendritic epithelial T cell precursor
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002401	"" []	5408327	\N	\N	EFO	7	EFO	leukocyte	mature dendritic epithelial T cell precursor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002401	"" []	6147274	\N	\N	EFO	8	EFO	cell type	mature dendritic epithelial T cell precursor
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002401	"" []	6147275	\N	\N	EFO	8	EFO	hematopoietic cell	mature dendritic epithelial T cell precursor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002401	"" []	6631768	\N	\N	EFO	9	EFO	material entity	mature dendritic epithelial T cell precursor
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002401	"" []	6631769	\N	\N	EFO	9	EFO	somatic cell	mature dendritic epithelial T cell precursor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002401	"" []	6925285	\N	\N	EFO	10	EFO	experimental factor	mature dendritic epithelial T cell precursor
CL:0002402	\N	\N	"" []	CL:0002402	"" []	63421	\N	\N	EFO	0	EFO	Peyer's patch B cell	Peyer's patch B cell
CL:0000785	CL:0002402	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002402	"" []	203459	\N	\N	EFO	1	EFO	mature B cell	Peyer's patch B cell
CL:0000822	CL:0002402	\N	"A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative." []	CL:0002402	"" []	203460	\N	\N	EFO	1	EFO	B-2 B cell	Peyer's patch B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002402	"" []	556455	\N	\N	EFO	2	EFO	B cell	Peyer's patch B cell
CL:0000785	CL:0000822	\N	"A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." []	CL:0002402	"" []	556456	\N	\N	EFO	2	EFO	mature B cell	Peyer's patch B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002402	"" []	1139139	\N	\N	EFO	3	EFO	lymphocyte of B lineage	Peyer's patch B cell
CL:0000236	CL:0000785	\N	"Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins." []	CL:0002402	"" []	1139140	\N	\N	EFO	3	EFO	B cell	Peyer's patch B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002402	"" []	2022193	\N	\N	EFO	4	EFO	lymphocyte	Peyer's patch B cell
CL:0000945	CL:0000236	\N	"" []	CL:0002402	"" []	2022194	\N	\N	EFO	4	EFO	lymphocyte of B lineage	Peyer's patch B cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002402	"" []	3176697	\N	\N	EFO	5	EFO	leukocyte	Peyer's patch B cell
CL:0000542	CL:0000945	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002402	"" []	3176698	\N	\N	EFO	5	EFO	lymphocyte	Peyer's patch B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002402	"" []	4387288	\N	\N	EFO	6	EFO	hematopoietic cell	Peyer's patch B cell
CL:0002087	CL:0000542	\N	"" []	CL:0002402	"" []	4387289	\N	\N	EFO	6	EFO	nongranular leukocyte	Peyer's patch B cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002402	"" []	5408328	\N	\N	EFO	7	EFO	cell type	Peyer's patch B cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002402	"" []	5408329	\N	\N	EFO	7	EFO	leukocyte	Peyer's patch B cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002402	"" []	6147276	\N	\N	EFO	8	EFO	material entity	Peyer's patch B cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002402	"" []	6147277	\N	\N	EFO	8	EFO	hematopoietic cell	Peyer's patch B cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002402	"" []	6631770	\N	\N	EFO	9	EFO	experimental factor	Peyer's patch B cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002402	"" []	6631771	\N	\N	EFO	9	EFO	somatic cell	Peyer's patch B cell
CL:0002403	\N	\N	"" []	CL:0002403	"" []	63422	\N	\N	EFO	0	EFO	mature Vgamma2-positive fetal thymocyte	mature Vgamma2-positive fetal thymocyte
CL:0002404	CL:0002403	\N	"" []	CL:0002403	"" []	203461	\N	\N	EFO	1	EFO	fetal thymocyte	mature Vgamma2-positive fetal thymocyte
CL:0002404	CL:0002403	\N	"" []	CL:0002403	"" []	203462	\N	\N	EFO	1	EFO	fetal thymocyte	mature Vgamma2-positive fetal thymocyte
CL:0000893	CL:0002404	\N	"An immature T cell located in the thymus." []	CL:0002403	"" []	556457	\N	\N	EFO	2	EFO	thymocyte	mature Vgamma2-positive fetal thymocyte
CL:0000893	CL:0002404	\N	"An immature T cell located in the thymus." []	CL:0002403	"" []	556458	\N	\N	EFO	2	EFO	thymocyte	mature Vgamma2-positive fetal thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002403	"" []	1139141	\N	\N	EFO	3	EFO	immature T cell	mature Vgamma2-positive fetal thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002403	"" []	1139142	\N	\N	EFO	3	EFO	immature T cell	mature Vgamma2-positive fetal thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002403	"" []	2022195	\N	\N	EFO	4	EFO	T cell	mature Vgamma2-positive fetal thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002403	"" []	2022196	\N	\N	EFO	4	EFO	T cell	mature Vgamma2-positive fetal thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002403	"" []	3176699	\N	\N	EFO	5	EFO	lymphocyte	mature Vgamma2-positive fetal thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002403	"" []	3176700	\N	\N	EFO	5	EFO	lymphocyte	mature Vgamma2-positive fetal thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002403	"" []	4387290	\N	\N	EFO	6	EFO	leukocyte	mature Vgamma2-positive fetal thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002403	"" []	4387291	\N	\N	EFO	6	EFO	nongranular leukocyte	mature Vgamma2-positive fetal thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002403	"" []	5408330	\N	\N	EFO	7	EFO	hematopoietic cell	mature Vgamma2-positive fetal thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002403	"" []	5408331	\N	\N	EFO	7	EFO	leukocyte	mature Vgamma2-positive fetal thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002403	"" []	6147278	\N	\N	EFO	8	EFO	cell type	mature Vgamma2-positive fetal thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002403	"" []	6147279	\N	\N	EFO	8	EFO	hematopoietic cell	mature Vgamma2-positive fetal thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002403	"" []	6631772	\N	\N	EFO	9	EFO	material entity	mature Vgamma2-positive fetal thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002403	"" []	6631773	\N	\N	EFO	9	EFO	somatic cell	mature Vgamma2-positive fetal thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002403	"" []	6925286	\N	\N	EFO	10	EFO	experimental factor	mature Vgamma2-positive fetal thymocyte
CL:0002404	\N	\N	"" []	CL:0002404	"" []	63423	\N	\N	EFO	0	EFO	fetal thymocyte	fetal thymocyte
CL:0000893	CL:0002404	\N	"An immature T cell located in the thymus." []	CL:0002404	"" []	203463	\N	\N	EFO	1	EFO	thymocyte	fetal thymocyte
CL:0000893	CL:0002404	\N	"An immature T cell located in the thymus." []	CL:0002404	"" []	203464	\N	\N	EFO	1	EFO	thymocyte	fetal thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002404	"" []	556459	\N	\N	EFO	2	EFO	immature T cell	fetal thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002404	"" []	556460	\N	\N	EFO	2	EFO	immature T cell	fetal thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002404	"" []	1139143	\N	\N	EFO	3	EFO	T cell	fetal thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002404	"" []	1139144	\N	\N	EFO	3	EFO	T cell	fetal thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002404	"" []	2022197	\N	\N	EFO	4	EFO	lymphocyte	fetal thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002404	"" []	2022198	\N	\N	EFO	4	EFO	lymphocyte	fetal thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002404	"" []	3176701	\N	\N	EFO	5	EFO	leukocyte	fetal thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002404	"" []	3176702	\N	\N	EFO	5	EFO	nongranular leukocyte	fetal thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002404	"" []	4387292	\N	\N	EFO	6	EFO	hematopoietic cell	fetal thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002404	"" []	4387293	\N	\N	EFO	6	EFO	leukocyte	fetal thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002404	"" []	5408332	\N	\N	EFO	7	EFO	cell type	fetal thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002404	"" []	5408333	\N	\N	EFO	7	EFO	hematopoietic cell	fetal thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002404	"" []	6147280	\N	\N	EFO	8	EFO	material entity	fetal thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002404	"" []	6147281	\N	\N	EFO	8	EFO	somatic cell	fetal thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002404	"" []	6631774	\N	\N	EFO	9	EFO	experimental factor	fetal thymocyte
CL:0002405	\N	\N	"" []	CL:0002405	"" []	63424	\N	\N	EFO	0	EFO	gamma-delta thymocyte	gamma-delta thymocyte
CL:0000798	CL:0002405	\N	"" []	CL:0002405	"" []	203465	\N	\N	EFO	1	EFO	gamma-delta T cell	gamma-delta thymocyte
CL:0000893	CL:0002405	\N	"An immature T cell located in the thymus." []	CL:0002405	"" []	203466	\N	\N	EFO	1	EFO	thymocyte	gamma-delta thymocyte
CL:0002489	CL:0002405	\N	"" []	CL:0002405	"" []	203467	\N	\N	EFO	1	EFO	double negative thymocyte	gamma-delta thymocyte
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002405	"" []	556461	\N	\N	EFO	2	EFO	T cell	gamma-delta thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002405	"" []	556462	\N	\N	EFO	2	EFO	immature T cell	gamma-delta thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002405	"" []	556463	\N	\N	EFO	2	EFO	thymocyte	gamma-delta thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002405	"" []	3176705	\N	\N	EFO	5	EFO	lymphocyte	gamma-delta thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002405	"" []	1139146	\N	\N	EFO	3	EFO	T cell	gamma-delta thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002405	"" []	1139147	\N	\N	EFO	3	EFO	immature T cell	gamma-delta thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002405	"" []	4066659	\N	\N	EFO	6	EFO	nongranular leukocyte	gamma-delta thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002405	"" []	2022200	\N	\N	EFO	4	EFO	lymphocyte	gamma-delta thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002405	"" []	2022201	\N	\N	EFO	4	EFO	T cell	gamma-delta thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002405	"" []	5059282	\N	\N	EFO	7	EFO	leukocyte	gamma-delta thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002405	"" []	3176704	\N	\N	EFO	5	EFO	leukocyte	gamma-delta thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002405	"" []	5876493	\N	\N	EFO	8	EFO	hematopoietic cell	gamma-delta thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002405	"" []	4387295	\N	\N	EFO	6	EFO	hematopoietic cell	gamma-delta thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002405	"" []	6469795	\N	\N	EFO	9	EFO	somatic cell	gamma-delta thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002405	"" []	5408335	\N	\N	EFO	7	EFO	cell type	gamma-delta thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002405	"" []	6147282	\N	\N	EFO	8	EFO	material entity	gamma-delta thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002405	"" []	6631775	\N	\N	EFO	9	EFO	experimental factor	gamma-delta thymocyte
CL:0002406	\N	\N	"" []	CL:0002406	"" []	63425	\N	\N	EFO	0	EFO	immature Vgamma2-positive thymocyte	immature Vgamma2-positive thymocyte
CL:0002405	CL:0002406	\N	"" []	CL:0002406	"" []	203468	\N	\N	EFO	1	EFO	gamma-delta thymocyte	immature Vgamma2-positive thymocyte
CL:0002405	CL:0002406	\N	"" []	CL:0002406	"" []	203469	\N	\N	EFO	1	EFO	gamma-delta thymocyte	immature Vgamma2-positive thymocyte
CL:0000893	CL:0002405	\N	"An immature T cell located in the thymus." []	CL:0002406	"" []	556464	\N	\N	EFO	2	EFO	thymocyte	immature Vgamma2-positive thymocyte
CL:0000798	CL:0002405	\N	"" []	CL:0002406	"" []	556465	\N	\N	EFO	2	EFO	gamma-delta T cell	immature Vgamma2-positive thymocyte
CL:0002489	CL:0002405	\N	"" []	CL:0002406	"" []	556466	\N	\N	EFO	2	EFO	double negative thymocyte	immature Vgamma2-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002406	"" []	1139148	\N	\N	EFO	3	EFO	immature T cell	immature Vgamma2-positive thymocyte
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002406	"" []	1139149	\N	\N	EFO	3	EFO	T cell	immature Vgamma2-positive thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002406	"" []	1139150	\N	\N	EFO	3	EFO	thymocyte	immature Vgamma2-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002406	"" []	2022202	\N	\N	EFO	4	EFO	T cell	immature Vgamma2-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002406	"" []	4387298	\N	\N	EFO	6	EFO	lymphocyte	immature Vgamma2-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002406	"" []	2022204	\N	\N	EFO	4	EFO	immature T cell	immature Vgamma2-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002406	"" []	3176706	\N	\N	EFO	5	EFO	lymphocyte	immature Vgamma2-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002406	"" []	5059283	\N	\N	EFO	7	EFO	nongranular leukocyte	immature Vgamma2-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002406	"" []	3176708	\N	\N	EFO	5	EFO	T cell	immature Vgamma2-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002406	"" []	4387296	\N	\N	EFO	6	EFO	leukocyte	immature Vgamma2-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002406	"" []	5876494	\N	\N	EFO	8	EFO	leukocyte	immature Vgamma2-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002406	"" []	5408336	\N	\N	EFO	7	EFO	hematopoietic cell	immature Vgamma2-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002406	"" []	6469796	\N	\N	EFO	9	EFO	hematopoietic cell	immature Vgamma2-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002406	"" []	6147283	\N	\N	EFO	8	EFO	cell type	immature Vgamma2-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002406	"" []	6848201	\N	\N	EFO	10	EFO	somatic cell	immature Vgamma2-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002406	"" []	6631776	\N	\N	EFO	9	EFO	material entity	immature Vgamma2-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002406	"" []	6925287	\N	\N	EFO	10	EFO	experimental factor	immature Vgamma2-positive thymocyte
CL:0002407	\N	\N	"" []	CL:0002407	"" []	63426	\N	\N	EFO	0	EFO	mature Vgamma2-positive thymocyte	mature Vgamma2-positive thymocyte
CL:0002405	CL:0002407	\N	"" []	CL:0002407	"" []	203470	\N	\N	EFO	1	EFO	gamma-delta thymocyte	mature Vgamma2-positive thymocyte
CL:0002405	CL:0002407	\N	"" []	CL:0002407	"" []	203471	\N	\N	EFO	1	EFO	gamma-delta thymocyte	mature Vgamma2-positive thymocyte
CL:0000893	CL:0002405	\N	"An immature T cell located in the thymus." []	CL:0002407	"" []	556467	\N	\N	EFO	2	EFO	thymocyte	mature Vgamma2-positive thymocyte
CL:0000798	CL:0002405	\N	"" []	CL:0002407	"" []	556468	\N	\N	EFO	2	EFO	gamma-delta T cell	mature Vgamma2-positive thymocyte
CL:0002489	CL:0002405	\N	"" []	CL:0002407	"" []	556469	\N	\N	EFO	2	EFO	double negative thymocyte	mature Vgamma2-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002407	"" []	1139151	\N	\N	EFO	3	EFO	immature T cell	mature Vgamma2-positive thymocyte
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002407	"" []	1139152	\N	\N	EFO	3	EFO	T cell	mature Vgamma2-positive thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002407	"" []	1139153	\N	\N	EFO	3	EFO	thymocyte	mature Vgamma2-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002407	"" []	2022205	\N	\N	EFO	4	EFO	T cell	mature Vgamma2-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002407	"" []	4387301	\N	\N	EFO	6	EFO	lymphocyte	mature Vgamma2-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002407	"" []	2022207	\N	\N	EFO	4	EFO	immature T cell	mature Vgamma2-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002407	"" []	3176709	\N	\N	EFO	5	EFO	lymphocyte	mature Vgamma2-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002407	"" []	5059284	\N	\N	EFO	7	EFO	nongranular leukocyte	mature Vgamma2-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002407	"" []	3176711	\N	\N	EFO	5	EFO	T cell	mature Vgamma2-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002407	"" []	4387299	\N	\N	EFO	6	EFO	leukocyte	mature Vgamma2-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002407	"" []	5876495	\N	\N	EFO	8	EFO	leukocyte	mature Vgamma2-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002407	"" []	5408338	\N	\N	EFO	7	EFO	hematopoietic cell	mature Vgamma2-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002407	"" []	6469797	\N	\N	EFO	9	EFO	hematopoietic cell	mature Vgamma2-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002407	"" []	6147285	\N	\N	EFO	8	EFO	cell type	mature Vgamma2-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002407	"" []	6848202	\N	\N	EFO	10	EFO	somatic cell	mature Vgamma2-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002407	"" []	6631777	\N	\N	EFO	9	EFO	material entity	mature Vgamma2-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002407	"" []	6925288	\N	\N	EFO	10	EFO	experimental factor	mature Vgamma2-positive thymocyte
CL:0002408	\N	\N	"" []	CL:0002408	"" []	63427	\N	\N	EFO	0	EFO	immature Vgamma2-negative thymocyte	immature Vgamma2-negative thymocyte
CL:0002405	CL:0002408	\N	"" []	CL:0002408	"" []	203472	\N	\N	EFO	1	EFO	gamma-delta thymocyte	immature Vgamma2-negative thymocyte
CL:0002405	CL:0002408	\N	"" []	CL:0002408	"" []	203473	\N	\N	EFO	1	EFO	gamma-delta thymocyte	immature Vgamma2-negative thymocyte
CL:0000893	CL:0002405	\N	"An immature T cell located in the thymus." []	CL:0002408	"" []	556470	\N	\N	EFO	2	EFO	thymocyte	immature Vgamma2-negative thymocyte
CL:0000798	CL:0002405	\N	"" []	CL:0002408	"" []	556471	\N	\N	EFO	2	EFO	gamma-delta T cell	immature Vgamma2-negative thymocyte
CL:0002489	CL:0002405	\N	"" []	CL:0002408	"" []	556472	\N	\N	EFO	2	EFO	double negative thymocyte	immature Vgamma2-negative thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002408	"" []	1139154	\N	\N	EFO	3	EFO	immature T cell	immature Vgamma2-negative thymocyte
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002408	"" []	1139155	\N	\N	EFO	3	EFO	T cell	immature Vgamma2-negative thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002408	"" []	1139156	\N	\N	EFO	3	EFO	thymocyte	immature Vgamma2-negative thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002408	"" []	2022208	\N	\N	EFO	4	EFO	T cell	immature Vgamma2-negative thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002408	"" []	4387304	\N	\N	EFO	6	EFO	lymphocyte	immature Vgamma2-negative thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002408	"" []	2022210	\N	\N	EFO	4	EFO	immature T cell	immature Vgamma2-negative thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002408	"" []	3176712	\N	\N	EFO	5	EFO	lymphocyte	immature Vgamma2-negative thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002408	"" []	5059285	\N	\N	EFO	7	EFO	nongranular leukocyte	immature Vgamma2-negative thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002408	"" []	3176714	\N	\N	EFO	5	EFO	T cell	immature Vgamma2-negative thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002408	"" []	4387302	\N	\N	EFO	6	EFO	leukocyte	immature Vgamma2-negative thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002408	"" []	5876496	\N	\N	EFO	8	EFO	leukocyte	immature Vgamma2-negative thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002408	"" []	5408340	\N	\N	EFO	7	EFO	hematopoietic cell	immature Vgamma2-negative thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002408	"" []	6469798	\N	\N	EFO	9	EFO	hematopoietic cell	immature Vgamma2-negative thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002408	"" []	6147287	\N	\N	EFO	8	EFO	cell type	immature Vgamma2-negative thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002408	"" []	6848203	\N	\N	EFO	10	EFO	somatic cell	immature Vgamma2-negative thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002408	"" []	6631778	\N	\N	EFO	9	EFO	material entity	immature Vgamma2-negative thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002408	"" []	6925289	\N	\N	EFO	10	EFO	experimental factor	immature Vgamma2-negative thymocyte
CL:0002409	\N	\N	"" []	CL:0002409	"" []	63428	\N	\N	EFO	0	EFO	mature Vgamma2-negative thymocyte	mature Vgamma2-negative thymocyte
CL:0002405	CL:0002409	\N	"" []	CL:0002409	"" []	203474	\N	\N	EFO	1	EFO	gamma-delta thymocyte	mature Vgamma2-negative thymocyte
CL:0002405	CL:0002409	\N	"" []	CL:0002409	"" []	203475	\N	\N	EFO	1	EFO	gamma-delta thymocyte	mature Vgamma2-negative thymocyte
CL:0000893	CL:0002405	\N	"An immature T cell located in the thymus." []	CL:0002409	"" []	556473	\N	\N	EFO	2	EFO	thymocyte	mature Vgamma2-negative thymocyte
CL:0000798	CL:0002405	\N	"" []	CL:0002409	"" []	556474	\N	\N	EFO	2	EFO	gamma-delta T cell	mature Vgamma2-negative thymocyte
CL:0002489	CL:0002405	\N	"" []	CL:0002409	"" []	556475	\N	\N	EFO	2	EFO	double negative thymocyte	mature Vgamma2-negative thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002409	"" []	1139157	\N	\N	EFO	3	EFO	immature T cell	mature Vgamma2-negative thymocyte
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002409	"" []	1139158	\N	\N	EFO	3	EFO	T cell	mature Vgamma2-negative thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002409	"" []	1139159	\N	\N	EFO	3	EFO	thymocyte	mature Vgamma2-negative thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002409	"" []	2022211	\N	\N	EFO	4	EFO	T cell	mature Vgamma2-negative thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002409	"" []	4387307	\N	\N	EFO	6	EFO	lymphocyte	mature Vgamma2-negative thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002409	"" []	2022213	\N	\N	EFO	4	EFO	immature T cell	mature Vgamma2-negative thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002409	"" []	3176715	\N	\N	EFO	5	EFO	lymphocyte	mature Vgamma2-negative thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002409	"" []	5059286	\N	\N	EFO	7	EFO	nongranular leukocyte	mature Vgamma2-negative thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002409	"" []	3176717	\N	\N	EFO	5	EFO	T cell	mature Vgamma2-negative thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002409	"" []	4387305	\N	\N	EFO	6	EFO	leukocyte	mature Vgamma2-negative thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002409	"" []	5876497	\N	\N	EFO	8	EFO	leukocyte	mature Vgamma2-negative thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002409	"" []	5408342	\N	\N	EFO	7	EFO	hematopoietic cell	mature Vgamma2-negative thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002409	"" []	6469799	\N	\N	EFO	9	EFO	hematopoietic cell	mature Vgamma2-negative thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002409	"" []	6147289	\N	\N	EFO	8	EFO	cell type	mature Vgamma2-negative thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002409	"" []	6848204	\N	\N	EFO	10	EFO	somatic cell	mature Vgamma2-negative thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002409	"" []	6631779	\N	\N	EFO	9	EFO	material entity	mature Vgamma2-negative thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002409	"" []	6925290	\N	\N	EFO	10	EFO	experimental factor	mature Vgamma2-negative thymocyte
CL:0002411	\N	\N	"" []	CL:0002411	"" []	63429	\N	\N	EFO	0	EFO	Vgamma1.1-positive, Vdelta6.3-negative thymocyte	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002405	CL:0002411	\N	"" []	CL:0002411	"" []	203476	\N	\N	EFO	1	EFO	gamma-delta thymocyte	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002405	CL:0002411	\N	"" []	CL:0002411	"" []	203477	\N	\N	EFO	1	EFO	gamma-delta thymocyte	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000893	CL:0002405	\N	"An immature T cell located in the thymus." []	CL:0002411	"" []	556476	\N	\N	EFO	2	EFO	thymocyte	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000798	CL:0002405	\N	"" []	CL:0002411	"" []	556477	\N	\N	EFO	2	EFO	gamma-delta T cell	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002489	CL:0002405	\N	"" []	CL:0002411	"" []	556478	\N	\N	EFO	2	EFO	double negative thymocyte	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002411	"" []	1139160	\N	\N	EFO	3	EFO	immature T cell	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002411	"" []	1139161	\N	\N	EFO	3	EFO	T cell	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002411	"" []	1139162	\N	\N	EFO	3	EFO	thymocyte	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002411	"" []	2022214	\N	\N	EFO	4	EFO	T cell	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002411	"" []	4387310	\N	\N	EFO	6	EFO	lymphocyte	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002411	"" []	2022216	\N	\N	EFO	4	EFO	immature T cell	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002411	"" []	3176718	\N	\N	EFO	5	EFO	lymphocyte	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002411	"" []	5059287	\N	\N	EFO	7	EFO	nongranular leukocyte	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002411	"" []	3176720	\N	\N	EFO	5	EFO	T cell	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002411	"" []	4387308	\N	\N	EFO	6	EFO	leukocyte	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002411	"" []	5876498	\N	\N	EFO	8	EFO	leukocyte	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002411	"" []	5408344	\N	\N	EFO	7	EFO	hematopoietic cell	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002411	"" []	6469800	\N	\N	EFO	9	EFO	hematopoietic cell	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002411	"" []	6147291	\N	\N	EFO	8	EFO	cell type	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002411	"" []	6848205	\N	\N	EFO	10	EFO	somatic cell	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002411	"" []	6631780	\N	\N	EFO	9	EFO	material entity	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002411	"" []	6925291	\N	\N	EFO	10	EFO	experimental factor	Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002412	\N	\N	"" []	CL:0002412	"" []	63430	\N	\N	EFO	0	EFO	Vgamma1.1-positive, Vdelta6.3-positive thymocyte	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002405	CL:0002412	\N	"" []	CL:0002412	"" []	203478	\N	\N	EFO	1	EFO	gamma-delta thymocyte	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002405	CL:0002412	\N	"" []	CL:0002412	"" []	203479	\N	\N	EFO	1	EFO	gamma-delta thymocyte	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000893	CL:0002405	\N	"An immature T cell located in the thymus." []	CL:0002412	"" []	556479	\N	\N	EFO	2	EFO	thymocyte	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000798	CL:0002405	\N	"" []	CL:0002412	"" []	556480	\N	\N	EFO	2	EFO	gamma-delta T cell	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002489	CL:0002405	\N	"" []	CL:0002412	"" []	556481	\N	\N	EFO	2	EFO	double negative thymocyte	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002412	"" []	1139163	\N	\N	EFO	3	EFO	immature T cell	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002412	"" []	1139164	\N	\N	EFO	3	EFO	T cell	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002412	"" []	1139165	\N	\N	EFO	3	EFO	thymocyte	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002412	"" []	2022217	\N	\N	EFO	4	EFO	T cell	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002412	"" []	4387313	\N	\N	EFO	6	EFO	lymphocyte	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002412	"" []	2022219	\N	\N	EFO	4	EFO	immature T cell	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002412	"" []	3176721	\N	\N	EFO	5	EFO	lymphocyte	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002412	"" []	5059288	\N	\N	EFO	7	EFO	nongranular leukocyte	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002412	"" []	3176723	\N	\N	EFO	5	EFO	T cell	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002412	"" []	4387311	\N	\N	EFO	6	EFO	leukocyte	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002412	"" []	5876499	\N	\N	EFO	8	EFO	leukocyte	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002412	"" []	5408346	\N	\N	EFO	7	EFO	hematopoietic cell	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002412	"" []	6469801	\N	\N	EFO	9	EFO	hematopoietic cell	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002412	"" []	6147293	\N	\N	EFO	8	EFO	cell type	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002412	"" []	6848206	\N	\N	EFO	10	EFO	somatic cell	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002412	"" []	6631781	\N	\N	EFO	9	EFO	material entity	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002412	"" []	6925292	\N	\N	EFO	10	EFO	experimental factor	Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002413	\N	\N	"" []	CL:0002413	"" []	63431	\N	\N	EFO	0	EFO	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002411	CL:0002413	\N	"" []	CL:0002413	"" []	203480	\N	\N	EFO	1	EFO	Vgamma1.1-positive, Vdelta6.3-negative thymocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002411	CL:0002413	\N	"" []	CL:0002413	"" []	203481	\N	\N	EFO	1	EFO	Vgamma1.1-positive, Vdelta6.3-negative thymocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002405	CL:0002411	\N	"" []	CL:0002413	"" []	556482	\N	\N	EFO	2	EFO	gamma-delta thymocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002405	CL:0002411	\N	"" []	CL:0002413	"" []	556483	\N	\N	EFO	2	EFO	gamma-delta thymocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000893	CL:0002405	\N	"An immature T cell located in the thymus." []	CL:0002413	"" []	1139166	\N	\N	EFO	3	EFO	thymocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000798	CL:0002405	\N	"" []	CL:0002413	"" []	1139167	\N	\N	EFO	3	EFO	gamma-delta T cell	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002489	CL:0002405	\N	"" []	CL:0002413	"" []	1139168	\N	\N	EFO	3	EFO	double negative thymocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002413	"" []	2022220	\N	\N	EFO	4	EFO	immature T cell	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002413	"" []	2022221	\N	\N	EFO	4	EFO	T cell	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002413	"" []	2022222	\N	\N	EFO	4	EFO	thymocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002413	"" []	3176724	\N	\N	EFO	5	EFO	T cell	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002413	"" []	5408350	\N	\N	EFO	7	EFO	lymphocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002413	"" []	3176726	\N	\N	EFO	5	EFO	immature T cell	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002413	"" []	4387314	\N	\N	EFO	6	EFO	lymphocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002413	"" []	5876500	\N	\N	EFO	8	EFO	nongranular leukocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002413	"" []	4387316	\N	\N	EFO	6	EFO	T cell	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002413	"" []	5408348	\N	\N	EFO	7	EFO	leukocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002413	"" []	6469802	\N	\N	EFO	9	EFO	leukocyte	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002413	"" []	6147295	\N	\N	EFO	8	EFO	hematopoietic cell	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002413	"" []	6848207	\N	\N	EFO	10	EFO	hematopoietic cell	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002413	"" []	6631782	\N	\N	EFO	9	EFO	cell type	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002413	"" []	7068360	\N	\N	EFO	11	EFO	somatic cell	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002413	"" []	6925293	\N	\N	EFO	10	EFO	material entity	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002413	"" []	7098988	\N	\N	EFO	11	EFO	experimental factor	mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002414	\N	\N	"" []	CL:0002414	"" []	63432	\N	\N	EFO	0	EFO	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002411	CL:0002414	\N	"" []	CL:0002414	"" []	203482	\N	\N	EFO	1	EFO	Vgamma1.1-positive, Vdelta6.3-negative thymocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002411	CL:0002414	\N	"" []	CL:0002414	"" []	203483	\N	\N	EFO	1	EFO	Vgamma1.1-positive, Vdelta6.3-negative thymocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002405	CL:0002411	\N	"" []	CL:0002414	"" []	556484	\N	\N	EFO	2	EFO	gamma-delta thymocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002405	CL:0002411	\N	"" []	CL:0002414	"" []	556485	\N	\N	EFO	2	EFO	gamma-delta thymocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000893	CL:0002405	\N	"An immature T cell located in the thymus." []	CL:0002414	"" []	1139169	\N	\N	EFO	3	EFO	thymocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000798	CL:0002405	\N	"" []	CL:0002414	"" []	1139170	\N	\N	EFO	3	EFO	gamma-delta T cell	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002489	CL:0002405	\N	"" []	CL:0002414	"" []	1139171	\N	\N	EFO	3	EFO	double negative thymocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002414	"" []	2022223	\N	\N	EFO	4	EFO	immature T cell	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002414	"" []	2022224	\N	\N	EFO	4	EFO	T cell	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002414	"" []	2022225	\N	\N	EFO	4	EFO	thymocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002414	"" []	3176727	\N	\N	EFO	5	EFO	T cell	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002414	"" []	5408353	\N	\N	EFO	7	EFO	lymphocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002414	"" []	3176729	\N	\N	EFO	5	EFO	immature T cell	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002414	"" []	4387317	\N	\N	EFO	6	EFO	lymphocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002414	"" []	5876501	\N	\N	EFO	8	EFO	nongranular leukocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002414	"" []	4387319	\N	\N	EFO	6	EFO	T cell	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002414	"" []	5408351	\N	\N	EFO	7	EFO	leukocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002414	"" []	6469803	\N	\N	EFO	9	EFO	leukocyte	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002414	"" []	6147297	\N	\N	EFO	8	EFO	hematopoietic cell	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002414	"" []	6848208	\N	\N	EFO	10	EFO	hematopoietic cell	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002414	"" []	6631784	\N	\N	EFO	9	EFO	cell type	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002414	"" []	7068361	\N	\N	EFO	11	EFO	somatic cell	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002414	"" []	6925294	\N	\N	EFO	10	EFO	material entity	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002414	"" []	7098989	\N	\N	EFO	11	EFO	experimental factor	immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte
CL:0002415	\N	\N	"" []	CL:0002415	"" []	63433	\N	\N	EFO	0	EFO	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002412	CL:0002415	\N	"" []	CL:0002415	"" []	203484	\N	\N	EFO	1	EFO	Vgamma1.1-positive, Vdelta6.3-positive thymocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002412	CL:0002415	\N	"" []	CL:0002415	"" []	203485	\N	\N	EFO	1	EFO	Vgamma1.1-positive, Vdelta6.3-positive thymocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002405	CL:0002412	\N	"" []	CL:0002415	"" []	556486	\N	\N	EFO	2	EFO	gamma-delta thymocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002405	CL:0002412	\N	"" []	CL:0002415	"" []	556487	\N	\N	EFO	2	EFO	gamma-delta thymocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000893	CL:0002405	\N	"An immature T cell located in the thymus." []	CL:0002415	"" []	1139172	\N	\N	EFO	3	EFO	thymocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000798	CL:0002405	\N	"" []	CL:0002415	"" []	1139173	\N	\N	EFO	3	EFO	gamma-delta T cell	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002489	CL:0002405	\N	"" []	CL:0002415	"" []	1139174	\N	\N	EFO	3	EFO	double negative thymocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002415	"" []	2022226	\N	\N	EFO	4	EFO	immature T cell	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002415	"" []	2022227	\N	\N	EFO	4	EFO	T cell	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002415	"" []	2022228	\N	\N	EFO	4	EFO	thymocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002415	"" []	3176730	\N	\N	EFO	5	EFO	T cell	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002415	"" []	5408356	\N	\N	EFO	7	EFO	lymphocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002415	"" []	3176732	\N	\N	EFO	5	EFO	immature T cell	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002415	"" []	4387320	\N	\N	EFO	6	EFO	lymphocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002415	"" []	5876502	\N	\N	EFO	8	EFO	nongranular leukocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002415	"" []	4387322	\N	\N	EFO	6	EFO	T cell	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002415	"" []	5408354	\N	\N	EFO	7	EFO	leukocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002415	"" []	6469804	\N	\N	EFO	9	EFO	leukocyte	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002415	"" []	6147299	\N	\N	EFO	8	EFO	hematopoietic cell	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002415	"" []	6848209	\N	\N	EFO	10	EFO	hematopoietic cell	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002415	"" []	6631786	\N	\N	EFO	9	EFO	cell type	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002415	"" []	7068362	\N	\N	EFO	11	EFO	somatic cell	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002415	"" []	6925295	\N	\N	EFO	10	EFO	material entity	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002415	"" []	7098990	\N	\N	EFO	11	EFO	experimental factor	immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002416	\N	\N	"" []	CL:0002416	"" []	63434	\N	\N	EFO	0	EFO	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002412	CL:0002416	\N	"" []	CL:0002416	"" []	203486	\N	\N	EFO	1	EFO	Vgamma1.1-positive, Vdelta6.3-positive thymocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002412	CL:0002416	\N	"" []	CL:0002416	"" []	203487	\N	\N	EFO	1	EFO	Vgamma1.1-positive, Vdelta6.3-positive thymocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002405	CL:0002412	\N	"" []	CL:0002416	"" []	556488	\N	\N	EFO	2	EFO	gamma-delta thymocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002405	CL:0002412	\N	"" []	CL:0002416	"" []	556489	\N	\N	EFO	2	EFO	gamma-delta thymocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000893	CL:0002405	\N	"An immature T cell located in the thymus." []	CL:0002416	"" []	1139175	\N	\N	EFO	3	EFO	thymocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000798	CL:0002405	\N	"" []	CL:0002416	"" []	1139176	\N	\N	EFO	3	EFO	gamma-delta T cell	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002489	CL:0002405	\N	"" []	CL:0002416	"" []	1139177	\N	\N	EFO	3	EFO	double negative thymocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002416	"" []	2022229	\N	\N	EFO	4	EFO	immature T cell	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002416	"" []	2022230	\N	\N	EFO	4	EFO	T cell	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002416	"" []	2022231	\N	\N	EFO	4	EFO	thymocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002416	"" []	3176733	\N	\N	EFO	5	EFO	T cell	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002416	"" []	5408359	\N	\N	EFO	7	EFO	lymphocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002416	"" []	3176735	\N	\N	EFO	5	EFO	immature T cell	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002416	"" []	4387323	\N	\N	EFO	6	EFO	lymphocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002416	"" []	5876503	\N	\N	EFO	8	EFO	nongranular leukocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002416	"" []	4387325	\N	\N	EFO	6	EFO	T cell	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002416	"" []	5408357	\N	\N	EFO	7	EFO	leukocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002416	"" []	6469805	\N	\N	EFO	9	EFO	leukocyte	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002416	"" []	6147301	\N	\N	EFO	8	EFO	hematopoietic cell	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002416	"" []	6848210	\N	\N	EFO	10	EFO	hematopoietic cell	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002416	"" []	6631788	\N	\N	EFO	9	EFO	cell type	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002416	"" []	7068363	\N	\N	EFO	11	EFO	somatic cell	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002416	"" []	6925296	\N	\N	EFO	10	EFO	material entity	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002416	"" []	7098991	\N	\N	EFO	11	EFO	experimental factor	mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte
CL:0002417	\N	\N	"" []	CL:0002417	"" []	63435	\N	\N	EFO	0	EFO	primitive erythroid lineage cell	primitive erythroid lineage cell
CL:0000764	CL:0002417	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002417	"" []	203488	\N	\N	EFO	1	EFO	erythroid lineage cell	primitive erythroid lineage cell
CL:0000764	CL:0002417	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002417	"" []	203489	\N	\N	EFO	1	EFO	erythroid lineage cell	primitive erythroid lineage cell
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002417	"" []	556490	\N	\N	EFO	2	EFO	myeloid cell	primitive erythroid lineage cell
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002417	"" []	556491	\N	\N	EFO	2	EFO	myeloid cell	primitive erythroid lineage cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002417	"" []	1139178	\N	\N	EFO	3	EFO	hematopoietic cell	primitive erythroid lineage cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002417	"" []	1139179	\N	\N	EFO	3	EFO	hematopoietic cell	primitive erythroid lineage cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002417	"" []	2022232	\N	\N	EFO	4	EFO	cell type	primitive erythroid lineage cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002417	"" []	2022233	\N	\N	EFO	4	EFO	somatic cell	primitive erythroid lineage cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002417	"" []	3176736	\N	\N	EFO	5	EFO	material entity	primitive erythroid lineage cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002417	"" []	4387326	\N	\N	EFO	6	EFO	experimental factor	primitive erythroid lineage cell
CL:0002419	\N	\N	"" []	CL:0002419	"" []	63436	\N	\N	EFO	0	EFO	mature T cell	mature T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002419	"" []	203490	\N	\N	EFO	1	EFO	T cell	mature T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002419	"" []	203491	\N	\N	EFO	1	EFO	T cell	mature T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002419	"" []	556492	\N	\N	EFO	2	EFO	lymphocyte	mature T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002419	"" []	556493	\N	\N	EFO	2	EFO	lymphocyte	mature T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002419	"" []	1139180	\N	\N	EFO	3	EFO	leukocyte	mature T cell
CL:0002087	CL:0000542	\N	"" []	CL:0002419	"" []	1139181	\N	\N	EFO	3	EFO	nongranular leukocyte	mature T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002419	"" []	2022234	\N	\N	EFO	4	EFO	hematopoietic cell	mature T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002419	"" []	2022235	\N	\N	EFO	4	EFO	leukocyte	mature T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002419	"" []	3176737	\N	\N	EFO	5	EFO	cell type	mature T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002419	"" []	3176738	\N	\N	EFO	5	EFO	hematopoietic cell	mature T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002419	"" []	4387327	\N	\N	EFO	6	EFO	material entity	mature T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002419	"" []	4387328	\N	\N	EFO	6	EFO	somatic cell	mature T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002419	"" []	5408360	\N	\N	EFO	7	EFO	experimental factor	mature T cell
CL:0002420	\N	\N	"" []	CL:0002420	"" []	63437	\N	\N	EFO	0	EFO	immature T cell	immature T cell
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002420	"" []	203492	\N	\N	EFO	1	EFO	T cell	immature T cell
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002420	"" []	203493	\N	\N	EFO	1	EFO	T cell	immature T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002420	"" []	556494	\N	\N	EFO	2	EFO	lymphocyte	immature T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002420	"" []	556495	\N	\N	EFO	2	EFO	lymphocyte	immature T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002420	"" []	1139182	\N	\N	EFO	3	EFO	leukocyte	immature T cell
CL:0002087	CL:0000542	\N	"" []	CL:0002420	"" []	1139183	\N	\N	EFO	3	EFO	nongranular leukocyte	immature T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002420	"" []	2022236	\N	\N	EFO	4	EFO	hematopoietic cell	immature T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002420	"" []	2022237	\N	\N	EFO	4	EFO	leukocyte	immature T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002420	"" []	3176739	\N	\N	EFO	5	EFO	cell type	immature T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002420	"" []	3176740	\N	\N	EFO	5	EFO	hematopoietic cell	immature T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002420	"" []	4387329	\N	\N	EFO	6	EFO	material entity	immature T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002420	"" []	4387330	\N	\N	EFO	6	EFO	somatic cell	immature T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002420	"" []	5408361	\N	\N	EFO	7	EFO	experimental factor	immature T cell
CL:0002421	\N	\N	"" []	CL:0002421	"" []	63438	\N	\N	EFO	0	EFO	nucleated reticulocyte	nucleated reticulocyte
CL:0002242	\N	\N	"A cell containing at least one nucleus." [GOC:tfm]	CL:0002421	"" []	194250	\N	\N	EFO	0	EFO	nucleate cell	nucleated reticulocyte
CL:0000558	CL:0002421	\N	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	CL:0002421	"" []	203494	\N	\N	EFO	1	EFO	reticulocyte	nucleated reticulocyte
CL:0000558	CL:0002421	\N	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	CL:0002421	"" []	203495	\N	\N	EFO	1	EFO	reticulocyte	nucleated reticulocyte
CL:0000764	CL:0000558	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002421	"" []	556496	\N	\N	EFO	2	EFO	erythroid lineage cell	nucleated reticulocyte
CL:0000764	CL:0000558	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002421	"" []	556497	\N	\N	EFO	2	EFO	erythroid lineage cell	nucleated reticulocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002421	"" []	1139184	\N	\N	EFO	3	EFO	myeloid cell	nucleated reticulocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002421	"" []	1139185	\N	\N	EFO	3	EFO	myeloid cell	nucleated reticulocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002421	"" []	2022238	\N	\N	EFO	4	EFO	hematopoietic cell	nucleated reticulocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002421	"" []	2022239	\N	\N	EFO	4	EFO	hematopoietic cell	nucleated reticulocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002421	"" []	3176741	\N	\N	EFO	5	EFO	cell type	nucleated reticulocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002421	"" []	3176742	\N	\N	EFO	5	EFO	somatic cell	nucleated reticulocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002421	"" []	4387331	\N	\N	EFO	6	EFO	material entity	nucleated reticulocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002421	"" []	5408362	\N	\N	EFO	7	EFO	experimental factor	nucleated reticulocyte
CL:0002422	\N	\N	"" []	CL:0002422	"" []	63439	\N	\N	EFO	0	EFO	enucleated reticulocyte	enucleated reticulocyte
CL:0000225	\N	\N	"A cell that lacks a nucleus." [FB:ma]	CL:0002422	"" []	194251	\N	\N	EFO	0	EFO	anucleate cell	enucleated reticulocyte
CL:0000558	CL:0002422	\N	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	CL:0002422	"" []	203496	\N	\N	EFO	1	EFO	reticulocyte	enucleated reticulocyte
CL:0000558	CL:0002422	\N	"An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." []	CL:0002422	"" []	203497	\N	\N	EFO	1	EFO	reticulocyte	enucleated reticulocyte
CL:0000764	CL:0000558	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002422	"" []	556498	\N	\N	EFO	2	EFO	erythroid lineage cell	enucleated reticulocyte
CL:0000764	CL:0000558	\N	"A immature or mature cell in the lineage leading to and including erythrocytes." []	CL:0002422	"" []	556499	\N	\N	EFO	2	EFO	erythroid lineage cell	enucleated reticulocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002422	"" []	1139186	\N	\N	EFO	3	EFO	myeloid cell	enucleated reticulocyte
CL:0000763	CL:0000764	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002422	"" []	1139187	\N	\N	EFO	3	EFO	myeloid cell	enucleated reticulocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002422	"" []	2022240	\N	\N	EFO	4	EFO	hematopoietic cell	enucleated reticulocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002422	"" []	2022241	\N	\N	EFO	4	EFO	hematopoietic cell	enucleated reticulocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002422	"" []	3176743	\N	\N	EFO	5	EFO	cell type	enucleated reticulocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002422	"" []	3176744	\N	\N	EFO	5	EFO	somatic cell	enucleated reticulocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002422	"" []	4387332	\N	\N	EFO	6	EFO	material entity	enucleated reticulocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002422	"" []	5408363	\N	\N	EFO	7	EFO	experimental factor	enucleated reticulocyte
CL:0002423	\N	\N	"" []	CL:0002423	"" []	63440	\N	\N	EFO	0	EFO	DN2a thymocyte	DN2a thymocyte
CL:0000806	CL:0002423	\N	"" []	CL:0002423	"" []	203498	\N	\N	EFO	1	EFO	DN2 thymocyte	DN2a thymocyte
CL:0000806	CL:0002423	\N	"" []	CL:0002423	"" []	203499	\N	\N	EFO	1	EFO	DN2 thymocyte	DN2a thymocyte
CL:0000893	CL:0000806	\N	"An immature T cell located in the thymus." []	CL:0002423	"" []	556500	\N	\N	EFO	2	EFO	thymocyte	DN2a thymocyte
CL:0002489	CL:0000806	\N	"" []	CL:0002423	"" []	556501	\N	\N	EFO	2	EFO	double negative thymocyte	DN2a thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002423	"" []	1139188	\N	\N	EFO	3	EFO	immature T cell	DN2a thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002423	"" []	1139189	\N	\N	EFO	3	EFO	thymocyte	DN2a thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002423	"" []	2022242	\N	\N	EFO	4	EFO	T cell	DN2a thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002423	"" []	2022243	\N	\N	EFO	4	EFO	immature T cell	DN2a thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002423	"" []	3176745	\N	\N	EFO	5	EFO	lymphocyte	DN2a thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002423	"" []	3176746	\N	\N	EFO	5	EFO	T cell	DN2a thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002423	"" []	4387333	\N	\N	EFO	6	EFO	leukocyte	DN2a thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002423	"" []	4387334	\N	\N	EFO	6	EFO	lymphocyte	DN2a thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002423	"" []	5408364	\N	\N	EFO	7	EFO	hematopoietic cell	DN2a thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002423	"" []	5408365	\N	\N	EFO	7	EFO	nongranular leukocyte	DN2a thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002423	"" []	6147303	\N	\N	EFO	8	EFO	cell type	DN2a thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002423	"" []	6147304	\N	\N	EFO	8	EFO	leukocyte	DN2a thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002423	"" []	6631790	\N	\N	EFO	9	EFO	material entity	DN2a thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002423	"" []	6631791	\N	\N	EFO	9	EFO	hematopoietic cell	DN2a thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002423	"" []	6925297	\N	\N	EFO	10	EFO	experimental factor	DN2a thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002423	"" []	6925298	\N	\N	EFO	10	EFO	somatic cell	DN2a thymocyte
CL:0002424	\N	\N	"" []	CL:0002424	"" []	63441	\N	\N	EFO	0	EFO	DN2b thymocyte	DN2b thymocyte
CL:0000806	CL:0002424	\N	"" []	CL:0002424	"" []	203500	\N	\N	EFO	1	EFO	DN2 thymocyte	DN2b thymocyte
CL:0000806	CL:0002424	\N	"" []	CL:0002424	"" []	203501	\N	\N	EFO	1	EFO	DN2 thymocyte	DN2b thymocyte
CL:0000893	CL:0000806	\N	"An immature T cell located in the thymus." []	CL:0002424	"" []	556502	\N	\N	EFO	2	EFO	thymocyte	DN2b thymocyte
CL:0002489	CL:0000806	\N	"" []	CL:0002424	"" []	556503	\N	\N	EFO	2	EFO	double negative thymocyte	DN2b thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002424	"" []	1139190	\N	\N	EFO	3	EFO	immature T cell	DN2b thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002424	"" []	1139191	\N	\N	EFO	3	EFO	thymocyte	DN2b thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002424	"" []	2022244	\N	\N	EFO	4	EFO	T cell	DN2b thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002424	"" []	2022245	\N	\N	EFO	4	EFO	immature T cell	DN2b thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002424	"" []	3176747	\N	\N	EFO	5	EFO	lymphocyte	DN2b thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002424	"" []	3176748	\N	\N	EFO	5	EFO	T cell	DN2b thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002424	"" []	4387335	\N	\N	EFO	6	EFO	leukocyte	DN2b thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002424	"" []	4387336	\N	\N	EFO	6	EFO	lymphocyte	DN2b thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002424	"" []	5408366	\N	\N	EFO	7	EFO	hematopoietic cell	DN2b thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002424	"" []	5408367	\N	\N	EFO	7	EFO	nongranular leukocyte	DN2b thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002424	"" []	6147305	\N	\N	EFO	8	EFO	cell type	DN2b thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002424	"" []	6147306	\N	\N	EFO	8	EFO	leukocyte	DN2b thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002424	"" []	6631792	\N	\N	EFO	9	EFO	material entity	DN2b thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002424	"" []	6631793	\N	\N	EFO	9	EFO	hematopoietic cell	DN2b thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002424	"" []	6925299	\N	\N	EFO	10	EFO	experimental factor	DN2b thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002424	"" []	6925300	\N	\N	EFO	10	EFO	somatic cell	DN2b thymocyte
CL:0002425	\N	\N	"" []	CL:0002425	"" []	63442	\N	\N	EFO	0	EFO	early T lineage precursor	early T lineage precursor
CL:0000827	CL:0002425	\N	"" []	CL:0002425	"" []	203502	\N	\N	EFO	1	EFO	pro-T cell	early T lineage precursor
CL:0000827	CL:0002425	\N	"" []	CL:0002425	"" []	203503	\N	\N	EFO	1	EFO	pro-T cell	early T lineage precursor
CL:0000838	CL:0000827	\N	"" []	CL:0002425	"" []	556504	\N	\N	EFO	2	EFO	lymphoid lineage restricted progenitor cell	early T lineage precursor
CL:0000838	CL:0000827	\N	"" []	CL:0002425	"" []	556505	\N	\N	EFO	2	EFO	lymphoid lineage restricted progenitor cell	early T lineage precursor
CL:0002031	CL:0000838	\N	"" []	CL:0002425	"" []	1139192	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	early T lineage precursor
CL:0002031	CL:0000838	\N	"" []	CL:0002425	"" []	1139193	\N	\N	EFO	3	EFO	hematopoietic lineage restricted progenitor cell	early T lineage precursor
CL:0000988	CL:0002031	\N	"A cell of a hematopoietic lineage." []	CL:0002425	"" []	2022246	\N	\N	EFO	4	EFO	hematopoietic cell	early T lineage precursor
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002425	"" []	3176749	\N	\N	EFO	5	EFO	cell type	early T lineage precursor
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002425	"" []	4387337	\N	\N	EFO	6	EFO	material entity	early T lineage precursor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002425	"" []	5408368	\N	\N	EFO	7	EFO	experimental factor	early T lineage precursor
CL:0002426	\N	\N	"" []	CL:0002426	"" []	63443	\N	\N	EFO	0	EFO	CD11b-positive, CD27-positive natural killer cell	CD11b-positive, CD27-positive natural killer cell
CL:0002438	CL:0002426	\N	"" []	CL:0002426	"" []	203504	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	CD11b-positive, CD27-positive natural killer cell
CL:0002438	CL:0002426	\N	"" []	CL:0002426	"" []	203505	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	CD11b-positive, CD27-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002426	"" []	556506	\N	\N	EFO	2	EFO	mature natural killer cell	CD11b-positive, CD27-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002426	"" []	556507	\N	\N	EFO	2	EFO	mature natural killer cell	CD11b-positive, CD27-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002426	"" []	1139194	\N	\N	EFO	3	EFO	natural killer cell	CD11b-positive, CD27-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002426	"" []	1139195	\N	\N	EFO	3	EFO	natural killer cell	CD11b-positive, CD27-positive natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002426	"" []	2022247	\N	\N	EFO	4	EFO	lymphocyte	CD11b-positive, CD27-positive natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002426	"" []	3176750	\N	\N	EFO	5	EFO	leukocyte	CD11b-positive, CD27-positive natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002426	"" []	4387338	\N	\N	EFO	6	EFO	hematopoietic cell	CD11b-positive, CD27-positive natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002426	"" []	5408369	\N	\N	EFO	7	EFO	cell type	CD11b-positive, CD27-positive natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002426	"" []	6147307	\N	\N	EFO	8	EFO	material entity	CD11b-positive, CD27-positive natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002426	"" []	6631794	\N	\N	EFO	9	EFO	experimental factor	CD11b-positive, CD27-positive natural killer cell
CL:0002427	\N	\N	"" []	CL:0002427	"" []	63444	\N	\N	EFO	0	EFO	resting double-positive thymocyte	resting double-positive thymocyte
CL:0000809	CL:0002427	\N	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	CL:0002427	"" []	203506	\N	\N	EFO	1	EFO	double-positive, alpha-beta thymocyte	resting double-positive thymocyte
CL:0000809	CL:0002427	\N	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	CL:0002427	"" []	203507	\N	\N	EFO	1	EFO	double-positive, alpha-beta thymocyte	resting double-positive thymocyte
CL:0000790	CL:0000809	\N	"" []	CL:0002427	"" []	556508	\N	\N	EFO	2	EFO	immature alpha-beta T cell	resting double-positive thymocyte
CL:0000893	CL:0000809	\N	"An immature T cell located in the thymus." []	CL:0002427	"" []	556509	\N	\N	EFO	2	EFO	thymocyte	resting double-positive thymocyte
CL:0000790	CL:0000809	\N	"" []	CL:0002427	"" []	556510	\N	\N	EFO	2	EFO	immature alpha-beta T cell	resting double-positive thymocyte
CL:0000893	CL:0000809	\N	"An immature T cell located in the thymus." []	CL:0002427	"" []	556511	\N	\N	EFO	2	EFO	thymocyte	resting double-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002427	"" []	1139196	\N	\N	EFO	3	EFO	alpha-beta T cell	resting double-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002427	"" []	1139197	\N	\N	EFO	3	EFO	immature T cell	resting double-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002427	"" []	1139198	\N	\N	EFO	3	EFO	alpha-beta T cell	resting double-positive thymocyte
CL:0002420	CL:0000790	\N	"" []	CL:0002427	"" []	1139199	\N	\N	EFO	3	EFO	immature T cell	resting double-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002427	"" []	1139200	\N	\N	EFO	3	EFO	immature T cell	resting double-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002427	"" []	2022248	\N	\N	EFO	4	EFO	T cell	resting double-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002427	"" []	2022249	\N	\N	EFO	4	EFO	T cell	resting double-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002427	"" []	2022250	\N	\N	EFO	4	EFO	T cell	resting double-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002427	"" []	2022251	\N	\N	EFO	4	EFO	T cell	resting double-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002427	"" []	3176751	\N	\N	EFO	5	EFO	lymphocyte	resting double-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002427	"" []	3176752	\N	\N	EFO	5	EFO	lymphocyte	resting double-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002427	"" []	4387339	\N	\N	EFO	6	EFO	leukocyte	resting double-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002427	"" []	4387340	\N	\N	EFO	6	EFO	nongranular leukocyte	resting double-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002427	"" []	5408370	\N	\N	EFO	7	EFO	hematopoietic cell	resting double-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002427	"" []	5408371	\N	\N	EFO	7	EFO	leukocyte	resting double-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002427	"" []	6147308	\N	\N	EFO	8	EFO	cell type	resting double-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002427	"" []	6147309	\N	\N	EFO	8	EFO	hematopoietic cell	resting double-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002427	"" []	6631795	\N	\N	EFO	9	EFO	material entity	resting double-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002427	"" []	6631796	\N	\N	EFO	9	EFO	somatic cell	resting double-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002427	"" []	6925301	\N	\N	EFO	10	EFO	experimental factor	resting double-positive thymocyte
CL:0002428	\N	\N	"" []	CL:0002428	"" []	63445	\N	\N	EFO	0	EFO	double-positive blast	double-positive blast
CL:0000809	CL:0002428	\N	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	CL:0002428	"" []	203508	\N	\N	EFO	1	EFO	double-positive, alpha-beta thymocyte	double-positive blast
CL:0000809	CL:0002428	\N	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	CL:0002428	"" []	203509	\N	\N	EFO	1	EFO	double-positive, alpha-beta thymocyte	double-positive blast
CL:0000790	CL:0000809	\N	"" []	CL:0002428	"" []	556512	\N	\N	EFO	2	EFO	immature alpha-beta T cell	double-positive blast
CL:0000893	CL:0000809	\N	"An immature T cell located in the thymus." []	CL:0002428	"" []	556513	\N	\N	EFO	2	EFO	thymocyte	double-positive blast
CL:0000790	CL:0000809	\N	"" []	CL:0002428	"" []	556514	\N	\N	EFO	2	EFO	immature alpha-beta T cell	double-positive blast
CL:0000893	CL:0000809	\N	"An immature T cell located in the thymus." []	CL:0002428	"" []	556515	\N	\N	EFO	2	EFO	thymocyte	double-positive blast
CL:0000789	CL:0000790	\N	"" []	CL:0002428	"" []	1139201	\N	\N	EFO	3	EFO	alpha-beta T cell	double-positive blast
CL:0002420	CL:0000893	\N	"" []	CL:0002428	"" []	1139202	\N	\N	EFO	3	EFO	immature T cell	double-positive blast
CL:0000789	CL:0000790	\N	"" []	CL:0002428	"" []	1139203	\N	\N	EFO	3	EFO	alpha-beta T cell	double-positive blast
CL:0002420	CL:0000790	\N	"" []	CL:0002428	"" []	1139204	\N	\N	EFO	3	EFO	immature T cell	double-positive blast
CL:0002420	CL:0000893	\N	"" []	CL:0002428	"" []	1139205	\N	\N	EFO	3	EFO	immature T cell	double-positive blast
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002428	"" []	2022252	\N	\N	EFO	4	EFO	T cell	double-positive blast
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002428	"" []	2022253	\N	\N	EFO	4	EFO	T cell	double-positive blast
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002428	"" []	2022254	\N	\N	EFO	4	EFO	T cell	double-positive blast
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002428	"" []	2022255	\N	\N	EFO	4	EFO	T cell	double-positive blast
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002428	"" []	3176753	\N	\N	EFO	5	EFO	lymphocyte	double-positive blast
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002428	"" []	3176754	\N	\N	EFO	5	EFO	lymphocyte	double-positive blast
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002428	"" []	4387341	\N	\N	EFO	6	EFO	leukocyte	double-positive blast
CL:0002087	CL:0000542	\N	"" []	CL:0002428	"" []	4387342	\N	\N	EFO	6	EFO	nongranular leukocyte	double-positive blast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002428	"" []	5408372	\N	\N	EFO	7	EFO	hematopoietic cell	double-positive blast
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002428	"" []	5408373	\N	\N	EFO	7	EFO	leukocyte	double-positive blast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002428	"" []	6147310	\N	\N	EFO	8	EFO	cell type	double-positive blast
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002428	"" []	6147311	\N	\N	EFO	8	EFO	hematopoietic cell	double-positive blast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002428	"" []	6631797	\N	\N	EFO	9	EFO	material entity	double-positive blast
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002428	"" []	6631798	\N	\N	EFO	9	EFO	somatic cell	double-positive blast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002428	"" []	6925302	\N	\N	EFO	10	EFO	experimental factor	double-positive blast
CL:0002429	\N	\N	"" []	CL:0002429	"" []	63446	\N	\N	EFO	0	EFO	CD69-positive double-positive thymocyte	CD69-positive double-positive thymocyte
CL:0000809	CL:0002429	\N	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	CL:0002429	"" []	203510	\N	\N	EFO	1	EFO	double-positive, alpha-beta thymocyte	CD69-positive double-positive thymocyte
CL:0000809	CL:0002429	\N	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	CL:0002429	"" []	203511	\N	\N	EFO	1	EFO	double-positive, alpha-beta thymocyte	CD69-positive double-positive thymocyte
CL:0000790	CL:0000809	\N	"" []	CL:0002429	"" []	556516	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD69-positive double-positive thymocyte
CL:0000893	CL:0000809	\N	"An immature T cell located in the thymus." []	CL:0002429	"" []	556517	\N	\N	EFO	2	EFO	thymocyte	CD69-positive double-positive thymocyte
CL:0000790	CL:0000809	\N	"" []	CL:0002429	"" []	556518	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD69-positive double-positive thymocyte
CL:0000893	CL:0000809	\N	"An immature T cell located in the thymus." []	CL:0002429	"" []	556519	\N	\N	EFO	2	EFO	thymocyte	CD69-positive double-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002429	"" []	1139206	\N	\N	EFO	3	EFO	alpha-beta T cell	CD69-positive double-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002429	"" []	1139207	\N	\N	EFO	3	EFO	immature T cell	CD69-positive double-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002429	"" []	1139208	\N	\N	EFO	3	EFO	alpha-beta T cell	CD69-positive double-positive thymocyte
CL:0002420	CL:0000790	\N	"" []	CL:0002429	"" []	1139209	\N	\N	EFO	3	EFO	immature T cell	CD69-positive double-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002429	"" []	1139210	\N	\N	EFO	3	EFO	immature T cell	CD69-positive double-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002429	"" []	2022256	\N	\N	EFO	4	EFO	T cell	CD69-positive double-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002429	"" []	2022257	\N	\N	EFO	4	EFO	T cell	CD69-positive double-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002429	"" []	2022258	\N	\N	EFO	4	EFO	T cell	CD69-positive double-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002429	"" []	2022259	\N	\N	EFO	4	EFO	T cell	CD69-positive double-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002429	"" []	3176755	\N	\N	EFO	5	EFO	lymphocyte	CD69-positive double-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002429	"" []	3176756	\N	\N	EFO	5	EFO	lymphocyte	CD69-positive double-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002429	"" []	4387343	\N	\N	EFO	6	EFO	leukocyte	CD69-positive double-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002429	"" []	4387344	\N	\N	EFO	6	EFO	nongranular leukocyte	CD69-positive double-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002429	"" []	5408374	\N	\N	EFO	7	EFO	hematopoietic cell	CD69-positive double-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002429	"" []	5408375	\N	\N	EFO	7	EFO	leukocyte	CD69-positive double-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002429	"" []	6147312	\N	\N	EFO	8	EFO	cell type	CD69-positive double-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002429	"" []	6147313	\N	\N	EFO	8	EFO	hematopoietic cell	CD69-positive double-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002429	"" []	6631799	\N	\N	EFO	9	EFO	material entity	CD69-positive double-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002429	"" []	6631800	\N	\N	EFO	9	EFO	somatic cell	CD69-positive double-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002429	"" []	6925303	\N	\N	EFO	10	EFO	experimental factor	CD69-positive double-positive thymocyte
CL:0002430	\N	\N	"" []	CL:0002430	"" []	63447	\N	\N	EFO	0	EFO	CD4-intermediate, CD8-positive double-positive thymocyte	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000809	CL:0002430	\N	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	CL:0002430	"" []	203512	\N	\N	EFO	1	EFO	double-positive, alpha-beta thymocyte	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000809	CL:0002430	\N	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	CL:0002430	"" []	203513	\N	\N	EFO	1	EFO	double-positive, alpha-beta thymocyte	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000790	CL:0000809	\N	"" []	CL:0002430	"" []	556520	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000893	CL:0000809	\N	"An immature T cell located in the thymus." []	CL:0002430	"" []	556521	\N	\N	EFO	2	EFO	thymocyte	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000790	CL:0000809	\N	"" []	CL:0002430	"" []	556522	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000893	CL:0000809	\N	"An immature T cell located in the thymus." []	CL:0002430	"" []	556523	\N	\N	EFO	2	EFO	thymocyte	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002430	"" []	1139211	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002430	"" []	1139212	\N	\N	EFO	3	EFO	immature T cell	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002430	"" []	1139213	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0002420	CL:0000790	\N	"" []	CL:0002430	"" []	1139214	\N	\N	EFO	3	EFO	immature T cell	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002430	"" []	1139215	\N	\N	EFO	3	EFO	immature T cell	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002430	"" []	2022260	\N	\N	EFO	4	EFO	T cell	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002430	"" []	2022261	\N	\N	EFO	4	EFO	T cell	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002430	"" []	2022262	\N	\N	EFO	4	EFO	T cell	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002430	"" []	2022263	\N	\N	EFO	4	EFO	T cell	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002430	"" []	3176757	\N	\N	EFO	5	EFO	lymphocyte	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002430	"" []	3176758	\N	\N	EFO	5	EFO	lymphocyte	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002430	"" []	4387345	\N	\N	EFO	6	EFO	leukocyte	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002430	"" []	4387346	\N	\N	EFO	6	EFO	nongranular leukocyte	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002430	"" []	5408376	\N	\N	EFO	7	EFO	hematopoietic cell	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002430	"" []	5408377	\N	\N	EFO	7	EFO	leukocyte	CD4-intermediate, CD8-positive double-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002430	"" []	6147314	\N	\N	EFO	8	EFO	cell type	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002430	"" []	6147315	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-intermediate, CD8-positive double-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002430	"" []	6631801	\N	\N	EFO	9	EFO	material entity	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002430	"" []	6631802	\N	\N	EFO	9	EFO	somatic cell	CD4-intermediate, CD8-positive double-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002430	"" []	6925304	\N	\N	EFO	10	EFO	experimental factor	CD4-intermediate, CD8-positive double-positive thymocyte
CL:0002431	\N	\N	"" []	CL:0002431	"" []	63448	\N	\N	EFO	0	EFO	CD4-positive, CD8-intermediate double-positive thymocyte	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000809	CL:0002431	\N	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	CL:0002431	"" []	203514	\N	\N	EFO	1	EFO	double-positive, alpha-beta thymocyte	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000809	CL:0002431	\N	"A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." []	CL:0002431	"" []	203515	\N	\N	EFO	1	EFO	double-positive, alpha-beta thymocyte	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000790	CL:0000809	\N	"" []	CL:0002431	"" []	556524	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000893	CL:0000809	\N	"An immature T cell located in the thymus." []	CL:0002431	"" []	556525	\N	\N	EFO	2	EFO	thymocyte	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000790	CL:0000809	\N	"" []	CL:0002431	"" []	556526	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000893	CL:0000809	\N	"An immature T cell located in the thymus." []	CL:0002431	"" []	556527	\N	\N	EFO	2	EFO	thymocyte	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002431	"" []	1139216	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002431	"" []	1139217	\N	\N	EFO	3	EFO	immature T cell	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002431	"" []	1139218	\N	\N	EFO	3	EFO	alpha-beta T cell	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0002420	CL:0000790	\N	"" []	CL:0002431	"" []	1139219	\N	\N	EFO	3	EFO	immature T cell	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002431	"" []	1139220	\N	\N	EFO	3	EFO	immature T cell	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002431	"" []	2022264	\N	\N	EFO	4	EFO	T cell	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002431	"" []	2022265	\N	\N	EFO	4	EFO	T cell	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002431	"" []	2022266	\N	\N	EFO	4	EFO	T cell	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002431	"" []	2022267	\N	\N	EFO	4	EFO	T cell	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002431	"" []	3176759	\N	\N	EFO	5	EFO	lymphocyte	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002431	"" []	3176760	\N	\N	EFO	5	EFO	lymphocyte	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002431	"" []	4387347	\N	\N	EFO	6	EFO	leukocyte	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002431	"" []	4387348	\N	\N	EFO	6	EFO	nongranular leukocyte	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002431	"" []	5408378	\N	\N	EFO	7	EFO	hematopoietic cell	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002431	"" []	5408379	\N	\N	EFO	7	EFO	leukocyte	CD4-positive, CD8-intermediate double-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002431	"" []	6147316	\N	\N	EFO	8	EFO	cell type	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002431	"" []	6147317	\N	\N	EFO	8	EFO	hematopoietic cell	CD4-positive, CD8-intermediate double-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002431	"" []	6631803	\N	\N	EFO	9	EFO	material entity	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002431	"" []	6631804	\N	\N	EFO	9	EFO	somatic cell	CD4-positive, CD8-intermediate double-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002431	"" []	6925305	\N	\N	EFO	10	EFO	experimental factor	CD4-positive, CD8-intermediate double-positive thymocyte
CL:0002432	\N	\N	"" []	CL:0002432	"" []	63449	\N	\N	EFO	0	EFO	CD24-positive, CD4 single-positive thymocyte	CD24-positive, CD4 single-positive thymocyte
CL:0000810	CL:0002432	\N	"" []	CL:0002432	"" []	203516	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta thymocyte	CD24-positive, CD4 single-positive thymocyte
CL:0000810	CL:0002432	\N	"" []	CL:0002432	"" []	203517	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta thymocyte	CD24-positive, CD4 single-positive thymocyte
CL:0000790	CL:0000810	\N	"" []	CL:0002432	"" []	556528	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD24-positive, CD4 single-positive thymocyte
CL:0000790	CL:0000810	\N	"" []	CL:0002432	"" []	556529	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD24-positive, CD4 single-positive thymocyte
CL:0000893	CL:0000810	\N	"An immature T cell located in the thymus." []	CL:0002432	"" []	556530	\N	\N	EFO	2	EFO	thymocyte	CD24-positive, CD4 single-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002432	"" []	1139221	\N	\N	EFO	3	EFO	alpha-beta T cell	CD24-positive, CD4 single-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002432	"" []	1139222	\N	\N	EFO	3	EFO	alpha-beta T cell	CD24-positive, CD4 single-positive thymocyte
CL:0002420	CL:0000790	\N	"" []	CL:0002432	"" []	1139223	\N	\N	EFO	3	EFO	immature T cell	CD24-positive, CD4 single-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002432	"" []	1139224	\N	\N	EFO	3	EFO	immature T cell	CD24-positive, CD4 single-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002432	"" []	2022268	\N	\N	EFO	4	EFO	T cell	CD24-positive, CD4 single-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002432	"" []	2022269	\N	\N	EFO	4	EFO	T cell	CD24-positive, CD4 single-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002432	"" []	2022270	\N	\N	EFO	4	EFO	T cell	CD24-positive, CD4 single-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002432	"" []	3176761	\N	\N	EFO	5	EFO	lymphocyte	CD24-positive, CD4 single-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002432	"" []	3176762	\N	\N	EFO	5	EFO	lymphocyte	CD24-positive, CD4 single-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002432	"" []	4387349	\N	\N	EFO	6	EFO	leukocyte	CD24-positive, CD4 single-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002432	"" []	4387350	\N	\N	EFO	6	EFO	nongranular leukocyte	CD24-positive, CD4 single-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002432	"" []	5408380	\N	\N	EFO	7	EFO	hematopoietic cell	CD24-positive, CD4 single-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002432	"" []	5408381	\N	\N	EFO	7	EFO	leukocyte	CD24-positive, CD4 single-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002432	"" []	6147318	\N	\N	EFO	8	EFO	cell type	CD24-positive, CD4 single-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002432	"" []	6147319	\N	\N	EFO	8	EFO	hematopoietic cell	CD24-positive, CD4 single-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002432	"" []	6631805	\N	\N	EFO	9	EFO	material entity	CD24-positive, CD4 single-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002432	"" []	6631806	\N	\N	EFO	9	EFO	somatic cell	CD24-positive, CD4 single-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002432	"" []	6925306	\N	\N	EFO	10	EFO	experimental factor	CD24-positive, CD4 single-positive thymocyte
CL:0002433	\N	\N	"" []	CL:0002433	"" []	63450	\N	\N	EFO	0	EFO	CD69-positive, CD4-positive single-positive thymocyte	CD69-positive, CD4-positive single-positive thymocyte
CL:0000810	CL:0002433	\N	"" []	CL:0002433	"" []	203518	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta thymocyte	CD69-positive, CD4-positive single-positive thymocyte
CL:0000810	CL:0002433	\N	"" []	CL:0002433	"" []	203519	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta thymocyte	CD69-positive, CD4-positive single-positive thymocyte
CL:0000790	CL:0000810	\N	"" []	CL:0002433	"" []	556531	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD69-positive, CD4-positive single-positive thymocyte
CL:0000790	CL:0000810	\N	"" []	CL:0002433	"" []	556532	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD69-positive, CD4-positive single-positive thymocyte
CL:0000893	CL:0000810	\N	"An immature T cell located in the thymus." []	CL:0002433	"" []	556533	\N	\N	EFO	2	EFO	thymocyte	CD69-positive, CD4-positive single-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002433	"" []	1139225	\N	\N	EFO	3	EFO	alpha-beta T cell	CD69-positive, CD4-positive single-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002433	"" []	1139226	\N	\N	EFO	3	EFO	alpha-beta T cell	CD69-positive, CD4-positive single-positive thymocyte
CL:0002420	CL:0000790	\N	"" []	CL:0002433	"" []	1139227	\N	\N	EFO	3	EFO	immature T cell	CD69-positive, CD4-positive single-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002433	"" []	1139228	\N	\N	EFO	3	EFO	immature T cell	CD69-positive, CD4-positive single-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002433	"" []	2022271	\N	\N	EFO	4	EFO	T cell	CD69-positive, CD4-positive single-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002433	"" []	2022272	\N	\N	EFO	4	EFO	T cell	CD69-positive, CD4-positive single-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002433	"" []	2022273	\N	\N	EFO	4	EFO	T cell	CD69-positive, CD4-positive single-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002433	"" []	3176763	\N	\N	EFO	5	EFO	lymphocyte	CD69-positive, CD4-positive single-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002433	"" []	3176764	\N	\N	EFO	5	EFO	lymphocyte	CD69-positive, CD4-positive single-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002433	"" []	4387351	\N	\N	EFO	6	EFO	leukocyte	CD69-positive, CD4-positive single-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002433	"" []	4387352	\N	\N	EFO	6	EFO	nongranular leukocyte	CD69-positive, CD4-positive single-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002433	"" []	5408382	\N	\N	EFO	7	EFO	hematopoietic cell	CD69-positive, CD4-positive single-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002433	"" []	5408383	\N	\N	EFO	7	EFO	leukocyte	CD69-positive, CD4-positive single-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002433	"" []	6147320	\N	\N	EFO	8	EFO	cell type	CD69-positive, CD4-positive single-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002433	"" []	6147321	\N	\N	EFO	8	EFO	hematopoietic cell	CD69-positive, CD4-positive single-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002433	"" []	6631807	\N	\N	EFO	9	EFO	material entity	CD69-positive, CD4-positive single-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002433	"" []	6631808	\N	\N	EFO	9	EFO	somatic cell	CD69-positive, CD4-positive single-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002433	"" []	6925307	\N	\N	EFO	10	EFO	experimental factor	CD69-positive, CD4-positive single-positive thymocyte
CL:0002434	\N	\N	"" []	CL:0002434	"" []	63451	\N	\N	EFO	0	EFO	CD24-positive, CD8 single-positive thymocyte	CD24-positive, CD8 single-positive thymocyte
CL:0000811	CL:0002434	\N	"" []	CL:0002434	"" []	203520	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta thymocyte	CD24-positive, CD8 single-positive thymocyte
CL:0000811	CL:0002434	\N	"" []	CL:0002434	"" []	203521	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta thymocyte	CD24-positive, CD8 single-positive thymocyte
CL:0000790	CL:0000811	\N	"" []	CL:0002434	"" []	556534	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD24-positive, CD8 single-positive thymocyte
CL:0000790	CL:0000811	\N	"" []	CL:0002434	"" []	556535	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD24-positive, CD8 single-positive thymocyte
CL:0000893	CL:0000811	\N	"An immature T cell located in the thymus." []	CL:0002434	"" []	556536	\N	\N	EFO	2	EFO	thymocyte	CD24-positive, CD8 single-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002434	"" []	1139229	\N	\N	EFO	3	EFO	alpha-beta T cell	CD24-positive, CD8 single-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002434	"" []	1139230	\N	\N	EFO	3	EFO	alpha-beta T cell	CD24-positive, CD8 single-positive thymocyte
CL:0002420	CL:0000790	\N	"" []	CL:0002434	"" []	1139231	\N	\N	EFO	3	EFO	immature T cell	CD24-positive, CD8 single-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002434	"" []	1139232	\N	\N	EFO	3	EFO	immature T cell	CD24-positive, CD8 single-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002434	"" []	2022274	\N	\N	EFO	4	EFO	T cell	CD24-positive, CD8 single-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002434	"" []	2022275	\N	\N	EFO	4	EFO	T cell	CD24-positive, CD8 single-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002434	"" []	2022276	\N	\N	EFO	4	EFO	T cell	CD24-positive, CD8 single-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002434	"" []	3176765	\N	\N	EFO	5	EFO	lymphocyte	CD24-positive, CD8 single-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002434	"" []	3176766	\N	\N	EFO	5	EFO	lymphocyte	CD24-positive, CD8 single-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002434	"" []	4387353	\N	\N	EFO	6	EFO	leukocyte	CD24-positive, CD8 single-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002434	"" []	4387354	\N	\N	EFO	6	EFO	nongranular leukocyte	CD24-positive, CD8 single-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002434	"" []	5408384	\N	\N	EFO	7	EFO	hematopoietic cell	CD24-positive, CD8 single-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002434	"" []	5408385	\N	\N	EFO	7	EFO	leukocyte	CD24-positive, CD8 single-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002434	"" []	6147322	\N	\N	EFO	8	EFO	cell type	CD24-positive, CD8 single-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002434	"" []	6147323	\N	\N	EFO	8	EFO	hematopoietic cell	CD24-positive, CD8 single-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002434	"" []	6631809	\N	\N	EFO	9	EFO	material entity	CD24-positive, CD8 single-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002434	"" []	6631810	\N	\N	EFO	9	EFO	somatic cell	CD24-positive, CD8 single-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002434	"" []	6925308	\N	\N	EFO	10	EFO	experimental factor	CD24-positive, CD8 single-positive thymocyte
CL:0002435	\N	\N	"" []	CL:0002435	"" []	63452	\N	\N	EFO	0	EFO	CD69-positive, CD8-positive single-positive thymocyte	CD69-positive, CD8-positive single-positive thymocyte
CL:0000811	CL:0002435	\N	"" []	CL:0002435	"" []	203522	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta thymocyte	CD69-positive, CD8-positive single-positive thymocyte
CL:0000811	CL:0002435	\N	"" []	CL:0002435	"" []	203523	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta thymocyte	CD69-positive, CD8-positive single-positive thymocyte
CL:0000790	CL:0000811	\N	"" []	CL:0002435	"" []	556537	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD69-positive, CD8-positive single-positive thymocyte
CL:0000790	CL:0000811	\N	"" []	CL:0002435	"" []	556538	\N	\N	EFO	2	EFO	immature alpha-beta T cell	CD69-positive, CD8-positive single-positive thymocyte
CL:0000893	CL:0000811	\N	"An immature T cell located in the thymus." []	CL:0002435	"" []	556539	\N	\N	EFO	2	EFO	thymocyte	CD69-positive, CD8-positive single-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002435	"" []	1139233	\N	\N	EFO	3	EFO	alpha-beta T cell	CD69-positive, CD8-positive single-positive thymocyte
CL:0000789	CL:0000790	\N	"" []	CL:0002435	"" []	1139234	\N	\N	EFO	3	EFO	alpha-beta T cell	CD69-positive, CD8-positive single-positive thymocyte
CL:0002420	CL:0000790	\N	"" []	CL:0002435	"" []	1139235	\N	\N	EFO	3	EFO	immature T cell	CD69-positive, CD8-positive single-positive thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002435	"" []	1139236	\N	\N	EFO	3	EFO	immature T cell	CD69-positive, CD8-positive single-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002435	"" []	2022277	\N	\N	EFO	4	EFO	T cell	CD69-positive, CD8-positive single-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002435	"" []	2022278	\N	\N	EFO	4	EFO	T cell	CD69-positive, CD8-positive single-positive thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002435	"" []	2022279	\N	\N	EFO	4	EFO	T cell	CD69-positive, CD8-positive single-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002435	"" []	3176767	\N	\N	EFO	5	EFO	lymphocyte	CD69-positive, CD8-positive single-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002435	"" []	3176768	\N	\N	EFO	5	EFO	lymphocyte	CD69-positive, CD8-positive single-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002435	"" []	4387355	\N	\N	EFO	6	EFO	leukocyte	CD69-positive, CD8-positive single-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002435	"" []	4387356	\N	\N	EFO	6	EFO	nongranular leukocyte	CD69-positive, CD8-positive single-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002435	"" []	5408386	\N	\N	EFO	7	EFO	hematopoietic cell	CD69-positive, CD8-positive single-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002435	"" []	5408387	\N	\N	EFO	7	EFO	leukocyte	CD69-positive, CD8-positive single-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002435	"" []	6147324	\N	\N	EFO	8	EFO	cell type	CD69-positive, CD8-positive single-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002435	"" []	6147325	\N	\N	EFO	8	EFO	hematopoietic cell	CD69-positive, CD8-positive single-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002435	"" []	6631811	\N	\N	EFO	9	EFO	material entity	CD69-positive, CD8-positive single-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002435	"" []	6631812	\N	\N	EFO	9	EFO	somatic cell	CD69-positive, CD8-positive single-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002435	"" []	6925309	\N	\N	EFO	10	EFO	experimental factor	CD69-positive, CD8-positive single-positive thymocyte
CL:0002436	\N	\N	"" []	CL:0002436	"" []	63453	\N	\N	EFO	0	EFO	mature CD4 single-positive thymocyte	mature CD4 single-positive thymocyte
CL:0000624	CL:0002436	\N	"" []	CL:0002436	"" []	203524	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	mature CD4 single-positive thymocyte
CL:0000624	CL:0002436	\N	"" []	CL:0002436	"" []	203525	\N	\N	EFO	1	EFO	CD4-positive, alpha-beta T cell	mature CD4 single-positive thymocyte
CL:0000791	CL:0000624	\N	"" []	CL:0002436	"" []	556540	\N	\N	EFO	2	EFO	mature alpha-beta T cell	mature CD4 single-positive thymocyte
CL:0000791	CL:0000624	\N	"" []	CL:0002436	"" []	556541	\N	\N	EFO	2	EFO	mature alpha-beta T cell	mature CD4 single-positive thymocyte
CL:0000789	CL:0000791	\N	"" []	CL:0002436	"" []	1139237	\N	\N	EFO	3	EFO	alpha-beta T cell	mature CD4 single-positive thymocyte
CL:0000789	CL:0000791	\N	"" []	CL:0002436	"" []	1139238	\N	\N	EFO	3	EFO	alpha-beta T cell	mature CD4 single-positive thymocyte
CL:0002419	CL:0000791	\N	"" []	CL:0002436	"" []	1139239	\N	\N	EFO	3	EFO	mature T cell	mature CD4 single-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002436	"" []	2022280	\N	\N	EFO	4	EFO	T cell	mature CD4 single-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002436	"" []	2022281	\N	\N	EFO	4	EFO	T cell	mature CD4 single-positive thymocyte
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002436	"" []	2022282	\N	\N	EFO	4	EFO	T cell	mature CD4 single-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002436	"" []	3176769	\N	\N	EFO	5	EFO	lymphocyte	mature CD4 single-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002436	"" []	3176770	\N	\N	EFO	5	EFO	lymphocyte	mature CD4 single-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002436	"" []	4387357	\N	\N	EFO	6	EFO	leukocyte	mature CD4 single-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002436	"" []	4387358	\N	\N	EFO	6	EFO	nongranular leukocyte	mature CD4 single-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002436	"" []	5408388	\N	\N	EFO	7	EFO	hematopoietic cell	mature CD4 single-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002436	"" []	5408389	\N	\N	EFO	7	EFO	leukocyte	mature CD4 single-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002436	"" []	6147326	\N	\N	EFO	8	EFO	cell type	mature CD4 single-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002436	"" []	6147327	\N	\N	EFO	8	EFO	hematopoietic cell	mature CD4 single-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002436	"" []	6631813	\N	\N	EFO	9	EFO	material entity	mature CD4 single-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002436	"" []	6631814	\N	\N	EFO	9	EFO	somatic cell	mature CD4 single-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002436	"" []	6925310	\N	\N	EFO	10	EFO	experimental factor	mature CD4 single-positive thymocyte
CL:0002437	\N	\N	"" []	CL:0002437	"" []	63454	\N	\N	EFO	0	EFO	mature CD8 single-positive thymocyte	mature CD8 single-positive thymocyte
CL:0000625	CL:0002437	\N	"" []	CL:0002437	"" []	203526	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	mature CD8 single-positive thymocyte
CL:0000625	CL:0002437	\N	"" []	CL:0002437	"" []	203527	\N	\N	EFO	1	EFO	CD8-positive, alpha-beta T cell	mature CD8 single-positive thymocyte
CL:0000791	CL:0000625	\N	"" []	CL:0002437	"" []	556542	\N	\N	EFO	2	EFO	mature alpha-beta T cell	mature CD8 single-positive thymocyte
CL:0000791	CL:0000625	\N	"" []	CL:0002437	"" []	556543	\N	\N	EFO	2	EFO	mature alpha-beta T cell	mature CD8 single-positive thymocyte
CL:0000789	CL:0000791	\N	"" []	CL:0002437	"" []	1139240	\N	\N	EFO	3	EFO	alpha-beta T cell	mature CD8 single-positive thymocyte
CL:0000789	CL:0000791	\N	"" []	CL:0002437	"" []	1139241	\N	\N	EFO	3	EFO	alpha-beta T cell	mature CD8 single-positive thymocyte
CL:0002419	CL:0000791	\N	"" []	CL:0002437	"" []	1139242	\N	\N	EFO	3	EFO	mature T cell	mature CD8 single-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002437	"" []	2022283	\N	\N	EFO	4	EFO	T cell	mature CD8 single-positive thymocyte
CL:0000084	CL:0000789	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002437	"" []	2022284	\N	\N	EFO	4	EFO	T cell	mature CD8 single-positive thymocyte
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002437	"" []	2022285	\N	\N	EFO	4	EFO	T cell	mature CD8 single-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002437	"" []	3176771	\N	\N	EFO	5	EFO	lymphocyte	mature CD8 single-positive thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002437	"" []	3176772	\N	\N	EFO	5	EFO	lymphocyte	mature CD8 single-positive thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002437	"" []	4387359	\N	\N	EFO	6	EFO	leukocyte	mature CD8 single-positive thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002437	"" []	4387360	\N	\N	EFO	6	EFO	nongranular leukocyte	mature CD8 single-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002437	"" []	5408390	\N	\N	EFO	7	EFO	hematopoietic cell	mature CD8 single-positive thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002437	"" []	5408391	\N	\N	EFO	7	EFO	leukocyte	mature CD8 single-positive thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002437	"" []	6147328	\N	\N	EFO	8	EFO	cell type	mature CD8 single-positive thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002437	"" []	6147329	\N	\N	EFO	8	EFO	hematopoietic cell	mature CD8 single-positive thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002437	"" []	6631815	\N	\N	EFO	9	EFO	material entity	mature CD8 single-positive thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002437	"" []	6631816	\N	\N	EFO	9	EFO	somatic cell	mature CD8 single-positive thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002437	"" []	6925311	\N	\N	EFO	10	EFO	experimental factor	mature CD8 single-positive thymocyte
CL:0002438	\N	\N	"" []	CL:0002438	"" []	63455	\N	\N	EFO	0	EFO	NK1.1-positive natural killer cell	NK1.1-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002438	"" []	203528	\N	\N	EFO	1	EFO	mature natural killer cell	NK1.1-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002438	"" []	203529	\N	\N	EFO	1	EFO	mature natural killer cell	NK1.1-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002438	"" []	556544	\N	\N	EFO	2	EFO	natural killer cell	NK1.1-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002438	"" []	556545	\N	\N	EFO	2	EFO	natural killer cell	NK1.1-positive natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002438	"" []	1139243	\N	\N	EFO	3	EFO	lymphocyte	NK1.1-positive natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002438	"" []	2022286	\N	\N	EFO	4	EFO	leukocyte	NK1.1-positive natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002438	"" []	3176773	\N	\N	EFO	5	EFO	hematopoietic cell	NK1.1-positive natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002438	"" []	4387361	\N	\N	EFO	6	EFO	cell type	NK1.1-positive natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002438	"" []	5408392	\N	\N	EFO	7	EFO	material entity	NK1.1-positive natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002438	"" []	6147330	\N	\N	EFO	8	EFO	experimental factor	NK1.1-positive natural killer cell
CL:0002439	\N	\N	"" []	CL:0002439	"" []	63456	\N	\N	EFO	0	EFO	NKGA2-positive natural killer cell	NKGA2-positive natural killer cell
CL:0002438	CL:0002439	\N	"" []	CL:0002439	"" []	203530	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	NKGA2-positive natural killer cell
CL:0002438	CL:0002439	\N	"" []	CL:0002439	"" []	203531	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	NKGA2-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002439	"" []	556546	\N	\N	EFO	2	EFO	mature natural killer cell	NKGA2-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002439	"" []	556547	\N	\N	EFO	2	EFO	mature natural killer cell	NKGA2-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002439	"" []	1139244	\N	\N	EFO	3	EFO	natural killer cell	NKGA2-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002439	"" []	1139245	\N	\N	EFO	3	EFO	natural killer cell	NKGA2-positive natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002439	"" []	2022287	\N	\N	EFO	4	EFO	lymphocyte	NKGA2-positive natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002439	"" []	3176774	\N	\N	EFO	5	EFO	leukocyte	NKGA2-positive natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002439	"" []	4387362	\N	\N	EFO	6	EFO	hematopoietic cell	NKGA2-positive natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002439	"" []	5408393	\N	\N	EFO	7	EFO	cell type	NKGA2-positive natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002439	"" []	6147331	\N	\N	EFO	8	EFO	material entity	NKGA2-positive natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002439	"" []	6631817	\N	\N	EFO	9	EFO	experimental factor	NKGA2-positive natural killer cell
CL:0002440	\N	\N	"" []	CL:0002440	"" []	63457	\N	\N	EFO	0	EFO	Ly49D-positive natural killer cell	Ly49D-positive natural killer cell
CL:0002438	CL:0002440	\N	"" []	CL:0002440	"" []	203532	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	Ly49D-positive natural killer cell
CL:0002438	CL:0002440	\N	"" []	CL:0002440	"" []	203533	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	Ly49D-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002440	"" []	556548	\N	\N	EFO	2	EFO	mature natural killer cell	Ly49D-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002440	"" []	556549	\N	\N	EFO	2	EFO	mature natural killer cell	Ly49D-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002440	"" []	1139246	\N	\N	EFO	3	EFO	natural killer cell	Ly49D-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002440	"" []	1139247	\N	\N	EFO	3	EFO	natural killer cell	Ly49D-positive natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002440	"" []	2022288	\N	\N	EFO	4	EFO	lymphocyte	Ly49D-positive natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002440	"" []	3176775	\N	\N	EFO	5	EFO	leukocyte	Ly49D-positive natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002440	"" []	4387363	\N	\N	EFO	6	EFO	hematopoietic cell	Ly49D-positive natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002440	"" []	5408394	\N	\N	EFO	7	EFO	cell type	Ly49D-positive natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002440	"" []	6147332	\N	\N	EFO	8	EFO	material entity	Ly49D-positive natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002440	"" []	6631818	\N	\N	EFO	9	EFO	experimental factor	Ly49D-positive natural killer cell
CL:0002441	\N	\N	"" []	CL:0002441	"" []	63458	\N	\N	EFO	0	EFO	CD94-positive natural killer cell	CD94-positive natural killer cell
CL:0002438	CL:0002441	\N	"" []	CL:0002441	"" []	203534	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	CD94-positive natural killer cell
CL:0002438	CL:0002441	\N	"" []	CL:0002441	"" []	203535	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	CD94-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002441	"" []	556550	\N	\N	EFO	2	EFO	mature natural killer cell	CD94-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002441	"" []	556551	\N	\N	EFO	2	EFO	mature natural killer cell	CD94-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002441	"" []	1139248	\N	\N	EFO	3	EFO	natural killer cell	CD94-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002441	"" []	1139249	\N	\N	EFO	3	EFO	natural killer cell	CD94-positive natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002441	"" []	2022289	\N	\N	EFO	4	EFO	lymphocyte	CD94-positive natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002441	"" []	3176776	\N	\N	EFO	5	EFO	leukocyte	CD94-positive natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002441	"" []	4387364	\N	\N	EFO	6	EFO	hematopoietic cell	CD94-positive natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002441	"" []	5408395	\N	\N	EFO	7	EFO	cell type	CD94-positive natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002441	"" []	6147333	\N	\N	EFO	8	EFO	material entity	CD94-positive natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002441	"" []	6631819	\N	\N	EFO	9	EFO	experimental factor	CD94-positive natural killer cell
CL:0002442	\N	\N	"" []	CL:0002442	"" []	63459	\N	\N	EFO	0	EFO	CD94-negative, Ly49CI-negative natural killer cell	CD94-negative, Ly49CI-negative natural killer cell
CL:0002438	CL:0002442	\N	"" []	CL:0002442	"" []	203536	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	CD94-negative, Ly49CI-negative natural killer cell
CL:0002446	CL:0002442	\N	"" []	CL:0002442	"" []	203537	\N	\N	EFO	1	EFO	Ly49CI-negative natural killer cell	CD94-negative, Ly49CI-negative natural killer cell
CL:0002447	CL:0002442	\N	"" []	CL:0002442	"" []	203538	\N	\N	EFO	1	EFO	CD94-negative natural killer cell	CD94-negative, Ly49CI-negative natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002442	"" []	556552	\N	\N	EFO	2	EFO	mature natural killer cell	CD94-negative, Ly49CI-negative natural killer cell
CL:0002438	CL:0002446	\N	"" []	CL:0002442	"" []	556553	\N	\N	EFO	2	EFO	NK1.1-positive natural killer cell	CD94-negative, Ly49CI-negative natural killer cell
CL:0002438	CL:0002447	\N	"" []	CL:0002442	"" []	556554	\N	\N	EFO	2	EFO	NK1.1-positive natural killer cell	CD94-negative, Ly49CI-negative natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002442	"" []	1139250	\N	\N	EFO	3	EFO	natural killer cell	CD94-negative, Ly49CI-negative natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002442	"" []	1139251	\N	\N	EFO	3	EFO	mature natural killer cell	CD94-negative, Ly49CI-negative natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002442	"" []	2022290	\N	\N	EFO	4	EFO	lymphocyte	CD94-negative, Ly49CI-negative natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002442	"" []	2022291	\N	\N	EFO	4	EFO	natural killer cell	CD94-negative, Ly49CI-negative natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002442	"" []	3176777	\N	\N	EFO	5	EFO	leukocyte	CD94-negative, Ly49CI-negative natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002442	"" []	4387365	\N	\N	EFO	6	EFO	hematopoietic cell	CD94-negative, Ly49CI-negative natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002442	"" []	5408396	\N	\N	EFO	7	EFO	cell type	CD94-negative, Ly49CI-negative natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002442	"" []	6147334	\N	\N	EFO	8	EFO	material entity	CD94-negative, Ly49CI-negative natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002442	"" []	6631820	\N	\N	EFO	9	EFO	experimental factor	CD94-negative, Ly49CI-negative natural killer cell
CL:0002443	\N	\N	"" []	CL:0002443	"" []	63460	\N	\N	EFO	0	EFO	Ly49CI-positive natural killer cell	Ly49CI-positive natural killer cell
CL:0002438	CL:0002443	\N	"" []	CL:0002443	"" []	203539	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	Ly49CI-positive natural killer cell
CL:0002438	CL:0002443	\N	"" []	CL:0002443	"" []	203540	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	Ly49CI-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002443	"" []	556555	\N	\N	EFO	2	EFO	mature natural killer cell	Ly49CI-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002443	"" []	556556	\N	\N	EFO	2	EFO	mature natural killer cell	Ly49CI-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002443	"" []	1139252	\N	\N	EFO	3	EFO	natural killer cell	Ly49CI-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002443	"" []	1139253	\N	\N	EFO	3	EFO	natural killer cell	Ly49CI-positive natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002443	"" []	2022292	\N	\N	EFO	4	EFO	lymphocyte	Ly49CI-positive natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002443	"" []	3176778	\N	\N	EFO	5	EFO	leukocyte	Ly49CI-positive natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002443	"" []	4387366	\N	\N	EFO	6	EFO	hematopoietic cell	Ly49CI-positive natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002443	"" []	5408397	\N	\N	EFO	7	EFO	cell type	Ly49CI-positive natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002443	"" []	6147335	\N	\N	EFO	8	EFO	material entity	Ly49CI-positive natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002443	"" []	6631821	\N	\N	EFO	9	EFO	experimental factor	Ly49CI-positive natural killer cell
CL:0002444	\N	\N	"" []	CL:0002444	"" []	63461	\N	\N	EFO	0	EFO	Ly49H-positive natural killer cell	Ly49H-positive natural killer cell
CL:0002438	CL:0002444	\N	"" []	CL:0002444	"" []	203541	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	Ly49H-positive natural killer cell
CL:0002438	CL:0002444	\N	"" []	CL:0002444	"" []	203542	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	Ly49H-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002444	"" []	556557	\N	\N	EFO	2	EFO	mature natural killer cell	Ly49H-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002444	"" []	556558	\N	\N	EFO	2	EFO	mature natural killer cell	Ly49H-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002444	"" []	1139254	\N	\N	EFO	3	EFO	natural killer cell	Ly49H-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002444	"" []	1139255	\N	\N	EFO	3	EFO	natural killer cell	Ly49H-positive natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002444	"" []	2022293	\N	\N	EFO	4	EFO	lymphocyte	Ly49H-positive natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002444	"" []	3176779	\N	\N	EFO	5	EFO	leukocyte	Ly49H-positive natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002444	"" []	4387367	\N	\N	EFO	6	EFO	hematopoietic cell	Ly49H-positive natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002444	"" []	5408398	\N	\N	EFO	7	EFO	cell type	Ly49H-positive natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002444	"" []	6147336	\N	\N	EFO	8	EFO	material entity	Ly49H-positive natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002444	"" []	6631822	\N	\N	EFO	9	EFO	experimental factor	Ly49H-positive natural killer cell
CL:0002445	\N	\N	"" []	CL:0002445	"" []	63462	\N	\N	EFO	0	EFO	Ly49D-negative natural killer cell	Ly49D-negative natural killer cell
CL:0002438	CL:0002445	\N	"" []	CL:0002445	"" []	203543	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	Ly49D-negative natural killer cell
CL:0002438	CL:0002445	\N	"" []	CL:0002445	"" []	203544	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	Ly49D-negative natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002445	"" []	556559	\N	\N	EFO	2	EFO	mature natural killer cell	Ly49D-negative natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002445	"" []	556560	\N	\N	EFO	2	EFO	mature natural killer cell	Ly49D-negative natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002445	"" []	1139256	\N	\N	EFO	3	EFO	natural killer cell	Ly49D-negative natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002445	"" []	1139257	\N	\N	EFO	3	EFO	natural killer cell	Ly49D-negative natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002445	"" []	2022294	\N	\N	EFO	4	EFO	lymphocyte	Ly49D-negative natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002445	"" []	3176780	\N	\N	EFO	5	EFO	leukocyte	Ly49D-negative natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002445	"" []	4387368	\N	\N	EFO	6	EFO	hematopoietic cell	Ly49D-negative natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002445	"" []	5408399	\N	\N	EFO	7	EFO	cell type	Ly49D-negative natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002445	"" []	6147337	\N	\N	EFO	8	EFO	material entity	Ly49D-negative natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002445	"" []	6631823	\N	\N	EFO	9	EFO	experimental factor	Ly49D-negative natural killer cell
CL:0002446	\N	\N	"" []	CL:0002446	"" []	63463	\N	\N	EFO	0	EFO	Ly49CI-negative natural killer cell	Ly49CI-negative natural killer cell
CL:0002438	CL:0002446	\N	"" []	CL:0002446	"" []	203545	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	Ly49CI-negative natural killer cell
CL:0002438	CL:0002446	\N	"" []	CL:0002446	"" []	203546	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	Ly49CI-negative natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002446	"" []	556561	\N	\N	EFO	2	EFO	mature natural killer cell	Ly49CI-negative natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002446	"" []	556562	\N	\N	EFO	2	EFO	mature natural killer cell	Ly49CI-negative natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002446	"" []	1139258	\N	\N	EFO	3	EFO	natural killer cell	Ly49CI-negative natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002446	"" []	1139259	\N	\N	EFO	3	EFO	natural killer cell	Ly49CI-negative natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002446	"" []	2022295	\N	\N	EFO	4	EFO	lymphocyte	Ly49CI-negative natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002446	"" []	3176781	\N	\N	EFO	5	EFO	leukocyte	Ly49CI-negative natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002446	"" []	4387369	\N	\N	EFO	6	EFO	hematopoietic cell	Ly49CI-negative natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002446	"" []	5408400	\N	\N	EFO	7	EFO	cell type	Ly49CI-negative natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002446	"" []	6147338	\N	\N	EFO	8	EFO	material entity	Ly49CI-negative natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002446	"" []	6631824	\N	\N	EFO	9	EFO	experimental factor	Ly49CI-negative natural killer cell
CL:0002447	\N	\N	"" []	CL:0002447	"" []	63464	\N	\N	EFO	0	EFO	CD94-negative natural killer cell	CD94-negative natural killer cell
CL:0002438	CL:0002447	\N	"" []	CL:0002447	"" []	203547	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	CD94-negative natural killer cell
CL:0002438	CL:0002447	\N	"" []	CL:0002447	"" []	203548	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	CD94-negative natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002447	"" []	556563	\N	\N	EFO	2	EFO	mature natural killer cell	CD94-negative natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002447	"" []	556564	\N	\N	EFO	2	EFO	mature natural killer cell	CD94-negative natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002447	"" []	1139260	\N	\N	EFO	3	EFO	natural killer cell	CD94-negative natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002447	"" []	1139261	\N	\N	EFO	3	EFO	natural killer cell	CD94-negative natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002447	"" []	2022296	\N	\N	EFO	4	EFO	lymphocyte	CD94-negative natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002447	"" []	3176782	\N	\N	EFO	5	EFO	leukocyte	CD94-negative natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002447	"" []	4387370	\N	\N	EFO	6	EFO	hematopoietic cell	CD94-negative natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002447	"" []	5408401	\N	\N	EFO	7	EFO	cell type	CD94-negative natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002447	"" []	6147339	\N	\N	EFO	8	EFO	material entity	CD94-negative natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002447	"" []	6631825	\N	\N	EFO	9	EFO	experimental factor	CD94-negative natural killer cell
CL:0002448	\N	\N	"" []	CL:0002448	"" []	63465	\N	\N	EFO	0	EFO	Ly49H-negative natural killer cell	Ly49H-negative natural killer cell
CL:0002438	CL:0002448	\N	"" []	CL:0002448	"" []	203549	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	Ly49H-negative natural killer cell
CL:0002438	CL:0002448	\N	"" []	CL:0002448	"" []	203550	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	Ly49H-negative natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002448	"" []	556565	\N	\N	EFO	2	EFO	mature natural killer cell	Ly49H-negative natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002448	"" []	556566	\N	\N	EFO	2	EFO	mature natural killer cell	Ly49H-negative natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002448	"" []	1139262	\N	\N	EFO	3	EFO	natural killer cell	Ly49H-negative natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002448	"" []	1139263	\N	\N	EFO	3	EFO	natural killer cell	Ly49H-negative natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002448	"" []	2022297	\N	\N	EFO	4	EFO	lymphocyte	Ly49H-negative natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002448	"" []	3176783	\N	\N	EFO	5	EFO	leukocyte	Ly49H-negative natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002448	"" []	4387371	\N	\N	EFO	6	EFO	hematopoietic cell	Ly49H-negative natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002448	"" []	5408402	\N	\N	EFO	7	EFO	cell type	Ly49H-negative natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002448	"" []	6147340	\N	\N	EFO	8	EFO	material entity	Ly49H-negative natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002448	"" []	6631826	\N	\N	EFO	9	EFO	experimental factor	Ly49H-negative natural killer cell
CL:0002449	\N	\N	"" []	CL:0002449	"" []	63466	\N	\N	EFO	0	EFO	CD94-positive Ly49CI-positive natural killer cell	CD94-positive Ly49CI-positive natural killer cell
CL:0002438	CL:0002449	\N	"" []	CL:0002449	"" []	203551	\N	\N	EFO	1	EFO	NK1.1-positive natural killer cell	CD94-positive Ly49CI-positive natural killer cell
CL:0002441	CL:0002449	\N	"" []	CL:0002449	"" []	203552	\N	\N	EFO	1	EFO	CD94-positive natural killer cell	CD94-positive Ly49CI-positive natural killer cell
CL:0002443	CL:0002449	\N	"" []	CL:0002449	"" []	203553	\N	\N	EFO	1	EFO	Ly49CI-positive natural killer cell	CD94-positive Ly49CI-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002449	"" []	556567	\N	\N	EFO	2	EFO	mature natural killer cell	CD94-positive Ly49CI-positive natural killer cell
CL:0002438	CL:0002441	\N	"" []	CL:0002449	"" []	556568	\N	\N	EFO	2	EFO	NK1.1-positive natural killer cell	CD94-positive Ly49CI-positive natural killer cell
CL:0002438	CL:0002443	\N	"" []	CL:0002449	"" []	556569	\N	\N	EFO	2	EFO	NK1.1-positive natural killer cell	CD94-positive Ly49CI-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002449	"" []	1139264	\N	\N	EFO	3	EFO	natural killer cell	CD94-positive Ly49CI-positive natural killer cell
CL:0000824	CL:0002438	\N	"" []	CL:0002449	"" []	1139265	\N	\N	EFO	3	EFO	mature natural killer cell	CD94-positive Ly49CI-positive natural killer cell
CL:0000542	CL:0000623	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002449	"" []	2022298	\N	\N	EFO	4	EFO	lymphocyte	CD94-positive Ly49CI-positive natural killer cell
CL:0000623	CL:0000824	\N	"A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." []	CL:0002449	"" []	2022299	\N	\N	EFO	4	EFO	natural killer cell	CD94-positive Ly49CI-positive natural killer cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002449	"" []	3176784	\N	\N	EFO	5	EFO	leukocyte	CD94-positive Ly49CI-positive natural killer cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002449	"" []	4387372	\N	\N	EFO	6	EFO	hematopoietic cell	CD94-positive Ly49CI-positive natural killer cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002449	"" []	5408403	\N	\N	EFO	7	EFO	cell type	CD94-positive Ly49CI-positive natural killer cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002449	"" []	6147341	\N	\N	EFO	8	EFO	material entity	CD94-positive Ly49CI-positive natural killer cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002449	"" []	6631827	\N	\N	EFO	9	EFO	experimental factor	CD94-positive Ly49CI-positive natural killer cell
CL:0002451	\N	\N	"A multi-fate stem cell that is the source of cells for growth of the mammary gland during puberty and gestation. This cell type gives rise to both the luminal and myoepithelial cell types of the gland, and have been shown to have the ability to regenerate the entire organ in mice. This cell type also plays an important role in carcinogenesis of the breast. This cell type is Lin-, CD24-positive, CD29-hi. [ PMID:16397499 GOC:tfm PMID:17851544 GOC:hjd PMID:15987436 ] " []	CL:0002451	"A multi-fate stem cell that is the source of cells for growth of the mammary gland during puberty and gestation. This cell type gives rise to both the luminal and myoepithelial cell types of the gland, and have been shown to have the ability to regenerate the entire organ in mice. This cell type also plays an important role in carcinogenesis of the breast. This cell type is Lin-, CD24-positive, CD29-hi. [ PMID:16397499 GOC:tfm PMID:17851544 GOC:hjd PMID:15987436 ] " []	63467	\N	\N	EFO	0	EFO	mammary stem cell	mammary stem cell
CL:0000034	CL:0002451	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0002451	"A multi-fate stem cell that is the source of cells for growth of the mammary gland during puberty and gestation. This cell type gives rise to both the luminal and myoepithelial cell types of the gland, and have been shown to have the ability to regenerate the entire organ in mice. This cell type also plays an important role in carcinogenesis of the breast. This cell type is Lin-, CD24-positive, CD29-hi. [ PMID:16397499 GOC:tfm PMID:17851544 GOC:hjd PMID:15987436 ] " []	203554	\N	\N	EFO	1	EFO	stem cell	mammary stem cell
CL:0000048	CL:0002451	\N	"A stem cell that can give rise to multiple lineages of cells." []	CL:0002451	"A multi-fate stem cell that is the source of cells for growth of the mammary gland during puberty and gestation. This cell type gives rise to both the luminal and myoepithelial cell types of the gland, and have been shown to have the ability to regenerate the entire organ in mice. This cell type also plays an important role in carcinogenesis of the breast. This cell type is Lin-, CD24-positive, CD29-hi. [ PMID:16397499 GOC:tfm PMID:17851544 GOC:hjd PMID:15987436 ] " []	203555	\N	\N	EFO	1	EFO	multipotent stem cell	mammary stem cell
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002451	"A multi-fate stem cell that is the source of cells for growth of the mammary gland during puberty and gestation. This cell type gives rise to both the luminal and myoepithelial cell types of the gland, and have been shown to have the ability to regenerate the entire organ in mice. This cell type also plays an important role in carcinogenesis of the breast. This cell type is Lin-, CD24-positive, CD29-hi. [ PMID:16397499 GOC:tfm PMID:17851544 GOC:hjd PMID:15987436 ] " []	556570	\N	\N	EFO	2	EFO	cell type	mammary stem cell
CL:0000034	CL:0000048	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0002451	"A multi-fate stem cell that is the source of cells for growth of the mammary gland during puberty and gestation. This cell type gives rise to both the luminal and myoepithelial cell types of the gland, and have been shown to have the ability to regenerate the entire organ in mice. This cell type also plays an important role in carcinogenesis of the breast. This cell type is Lin-, CD24-positive, CD29-hi. [ PMID:16397499 GOC:tfm PMID:17851544 GOC:hjd PMID:15987436 ] " []	556571	\N	\N	EFO	2	EFO	stem cell	mammary stem cell
CL:0002371	CL:0000048	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002451	"A multi-fate stem cell that is the source of cells for growth of the mammary gland during puberty and gestation. This cell type gives rise to both the luminal and myoepithelial cell types of the gland, and have been shown to have the ability to regenerate the entire organ in mice. This cell type also plays an important role in carcinogenesis of the breast. This cell type is Lin-, CD24-positive, CD29-hi. [ PMID:16397499 GOC:tfm PMID:17851544 GOC:hjd PMID:15987436 ] " []	556572	\N	\N	EFO	2	EFO	somatic cell	mammary stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002451	"A multi-fate stem cell that is the source of cells for growth of the mammary gland during puberty and gestation. This cell type gives rise to both the luminal and myoepithelial cell types of the gland, and have been shown to have the ability to regenerate the entire organ in mice. This cell type also plays an important role in carcinogenesis of the breast. This cell type is Lin-, CD24-positive, CD29-hi. [ PMID:16397499 GOC:tfm PMID:17851544 GOC:hjd PMID:15987436 ] " []	1139266	\N	\N	EFO	3	EFO	material entity	mammary stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002451	"A multi-fate stem cell that is the source of cells for growth of the mammary gland during puberty and gestation. This cell type gives rise to both the luminal and myoepithelial cell types of the gland, and have been shown to have the ability to regenerate the entire organ in mice. This cell type also plays an important role in carcinogenesis of the breast. This cell type is Lin-, CD24-positive, CD29-hi. [ PMID:16397499 GOC:tfm PMID:17851544 GOC:hjd PMID:15987436 ] " []	2022300	\N	\N	EFO	4	EFO	experimental factor	mammary stem cell
CL:0002454	\N	\N	"" []	CL:0002454	"" []	63468	\N	\N	EFO	0	EFO	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CL:0002465	CL:0002454	\N	"" []	CL:0002454	"" []	203556	\N	\N	EFO	1	EFO	CD11b-positive dendritic cell	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CL:0002465	CL:0002454	\N	"" []	CL:0002454	"" []	203557	\N	\N	EFO	1	EFO	CD11b-positive dendritic cell	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002454	"" []	556573	\N	\N	EFO	2	EFO	conventional dendritic cell	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002454	"" []	556574	\N	\N	EFO	2	EFO	conventional dendritic cell	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002454	"" []	1139267	\N	\N	EFO	3	EFO	dendritic cell	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002454	"" []	1139268	\N	\N	EFO	3	EFO	dendritic cell	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002454	"" []	2022301	\N	\N	EFO	4	EFO	leukocyte	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002454	"" []	2022302	\N	\N	EFO	4	EFO	leukocyte	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002454	"" []	3176785	\N	\N	EFO	5	EFO	hematopoietic cell	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002454	"" []	3176786	\N	\N	EFO	5	EFO	hematopoietic cell	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002454	"" []	4387373	\N	\N	EFO	6	EFO	cell type	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002454	"" []	4387374	\N	\N	EFO	6	EFO	somatic cell	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002454	"" []	5408404	\N	\N	EFO	7	EFO	material entity	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002454	"" []	6147342	\N	\N	EFO	8	EFO	experimental factor	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
CL:0002455	\N	\N	"" []	CL:0002455	"" []	63469	\N	\N	EFO	0	EFO	CD8_alpha-negative plasmactyoid dendritic cell	CD8_alpha-negative plasmactyoid dendritic cell
CL:0000989	CL:0002455	\N	"" []	CL:0002455	"" []	203558	\N	\N	EFO	1	EFO	CD11c-low plasmacytoid dendritic cell	CD8_alpha-negative plasmactyoid dendritic cell
CL:0000989	CL:0002455	\N	"" []	CL:0002455	"" []	203559	\N	\N	EFO	1	EFO	CD11c-low plasmacytoid dendritic cell	CD8_alpha-negative plasmactyoid dendritic cell
CL:0000784	CL:0000989	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0002455	"" []	556575	\N	\N	EFO	2	EFO	plasmacytoid dendritic cell	CD8_alpha-negative plasmactyoid dendritic cell
CL:0000784	CL:0000989	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0002455	"" []	556576	\N	\N	EFO	2	EFO	plasmacytoid dendritic cell	CD8_alpha-negative plasmactyoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002455	"" []	1139269	\N	\N	EFO	3	EFO	dendritic cell	CD8_alpha-negative plasmactyoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002455	"" []	1139270	\N	\N	EFO	3	EFO	dendritic cell	CD8_alpha-negative plasmactyoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002455	"" []	2022303	\N	\N	EFO	4	EFO	leukocyte	CD8_alpha-negative plasmactyoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002455	"" []	2022304	\N	\N	EFO	4	EFO	leukocyte	CD8_alpha-negative plasmactyoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002455	"" []	3176787	\N	\N	EFO	5	EFO	hematopoietic cell	CD8_alpha-negative plasmactyoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002455	"" []	3176788	\N	\N	EFO	5	EFO	hematopoietic cell	CD8_alpha-negative plasmactyoid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002455	"" []	4387375	\N	\N	EFO	6	EFO	cell type	CD8_alpha-negative plasmactyoid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002455	"" []	4387376	\N	\N	EFO	6	EFO	somatic cell	CD8_alpha-negative plasmactyoid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002455	"" []	5408405	\N	\N	EFO	7	EFO	material entity	CD8_alpha-negative plasmactyoid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002455	"" []	6147343	\N	\N	EFO	8	EFO	experimental factor	CD8_alpha-negative plasmactyoid dendritic cell
CL:0002456	\N	\N	"" []	CL:0002456	"" []	63470	\N	\N	EFO	0	EFO	CD8_alpha-positive plasmactyoid dendritic cell	CD8_alpha-positive plasmactyoid dendritic cell
CL:0000989	CL:0002456	\N	"" []	CL:0002456	"" []	203560	\N	\N	EFO	1	EFO	CD11c-low plasmacytoid dendritic cell	CD8_alpha-positive plasmactyoid dendritic cell
CL:0000989	CL:0002456	\N	"" []	CL:0002456	"" []	203561	\N	\N	EFO	1	EFO	CD11c-low plasmacytoid dendritic cell	CD8_alpha-positive plasmactyoid dendritic cell
CL:0000784	CL:0000989	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0002456	"" []	556577	\N	\N	EFO	2	EFO	plasmacytoid dendritic cell	CD8_alpha-positive plasmactyoid dendritic cell
CL:0000784	CL:0000989	\N	"A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection." []	CL:0002456	"" []	556578	\N	\N	EFO	2	EFO	plasmacytoid dendritic cell	CD8_alpha-positive plasmactyoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002456	"" []	1139271	\N	\N	EFO	3	EFO	dendritic cell	CD8_alpha-positive plasmactyoid dendritic cell
CL:0000451	CL:0000784	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002456	"" []	1139272	\N	\N	EFO	3	EFO	dendritic cell	CD8_alpha-positive plasmactyoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002456	"" []	2022305	\N	\N	EFO	4	EFO	leukocyte	CD8_alpha-positive plasmactyoid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002456	"" []	2022306	\N	\N	EFO	4	EFO	leukocyte	CD8_alpha-positive plasmactyoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002456	"" []	3176789	\N	\N	EFO	5	EFO	hematopoietic cell	CD8_alpha-positive plasmactyoid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002456	"" []	3176790	\N	\N	EFO	5	EFO	hematopoietic cell	CD8_alpha-positive plasmactyoid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002456	"" []	4387377	\N	\N	EFO	6	EFO	cell type	CD8_alpha-positive plasmactyoid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002456	"" []	4387378	\N	\N	EFO	6	EFO	somatic cell	CD8_alpha-positive plasmactyoid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002456	"" []	5408406	\N	\N	EFO	7	EFO	material entity	CD8_alpha-positive plasmactyoid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002456	"" []	6147344	\N	\N	EFO	8	EFO	experimental factor	CD8_alpha-positive plasmactyoid dendritic cell
CL:0002457	\N	\N	"" []	CL:0002457	"" []	63471	\N	\N	EFO	0	EFO	epidermal Langerhans cell	epidermal Langerhans cell
CL:0000453	CL:0002457	\N	"" []	CL:0002457	"" []	203562	\N	\N	EFO	1	EFO	Langerhans cell	epidermal Langerhans cell
CL:0000453	CL:0002457	\N	"" []	CL:0002457	"" []	203563	\N	\N	EFO	1	EFO	Langerhans cell	epidermal Langerhans cell
CL:0002465	CL:0002457	\N	"" []	CL:0002457	"" []	203564	\N	\N	EFO	1	EFO	CD11b-positive dendritic cell	epidermal Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0002457	"" []	556579	\N	\N	EFO	2	EFO	conventional dendritic cell	epidermal Langerhans cell
CL:0000766	CL:0000453	\N	"" []	CL:0002457	"" []	556580	\N	\N	EFO	2	EFO	myeloid leukocyte	epidermal Langerhans cell
CL:0000990	CL:0000453	\N	"" []	CL:0002457	"" []	556581	\N	\N	EFO	2	EFO	conventional dendritic cell	epidermal Langerhans cell
CL:0000990	CL:0002465	\N	"" []	CL:0002457	"" []	556582	\N	\N	EFO	2	EFO	conventional dendritic cell	epidermal Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002457	"" []	1139273	\N	\N	EFO	3	EFO	dendritic cell	epidermal Langerhans cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002457	"" []	1139274	\N	\N	EFO	3	EFO	leukocyte	epidermal Langerhans cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002457	"" []	1139275	\N	\N	EFO	3	EFO	myeloid cell	epidermal Langerhans cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002457	"" []	1139276	\N	\N	EFO	3	EFO	dendritic cell	epidermal Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002457	"" []	2022307	\N	\N	EFO	4	EFO	leukocyte	epidermal Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002457	"" []	3176793	\N	\N	EFO	5	EFO	hematopoietic cell	epidermal Langerhans cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002457	"" []	2022309	\N	\N	EFO	4	EFO	hematopoietic cell	epidermal Langerhans cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002457	"" []	2022310	\N	\N	EFO	4	EFO	leukocyte	epidermal Langerhans cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002457	"" []	3176791	\N	\N	EFO	5	EFO	hematopoietic cell	epidermal Langerhans cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002457	"" []	4132474	\N	\N	EFO	6	EFO	somatic cell	epidermal Langerhans cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002457	"" []	4387379	\N	\N	EFO	6	EFO	cell type	epidermal Langerhans cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002457	"" []	5408407	\N	\N	EFO	7	EFO	material entity	epidermal Langerhans cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002457	"" []	6147345	\N	\N	EFO	8	EFO	experimental factor	epidermal Langerhans cell
CL:0002458	\N	\N	"" []	CL:0002458	"" []	63472	\N	\N	EFO	0	EFO	langerin-positive dermal dendritic cell	langerin-positive dermal dendritic cell
CL:0001006	CL:0002458	\N	"" []	CL:0002458	"" []	203565	\N	\N	EFO	1	EFO	dermal dendritic cell	langerin-positive dermal dendritic cell
CL:0001006	CL:0002458	\N	"" []	CL:0002458	"" []	203566	\N	\N	EFO	1	EFO	dermal dendritic cell	langerin-positive dermal dendritic cell
CL:0002461	CL:0002458	\N	"" []	CL:0002458	"" []	203567	\N	\N	EFO	1	EFO	CD103-positive dendritic cell	langerin-positive dermal dendritic cell
CL:0000990	CL:0001006	\N	"" []	CL:0002458	"" []	556583	\N	\N	EFO	2	EFO	conventional dendritic cell	langerin-positive dermal dendritic cell
CL:0002465	CL:0001006	\N	"" []	CL:0002458	"" []	556584	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	langerin-positive dermal dendritic cell
CL:0000766	CL:0002461	\N	"" []	CL:0002458	"" []	556585	\N	\N	EFO	2	EFO	myeloid leukocyte	langerin-positive dermal dendritic cell
CL:0000990	CL:0002461	\N	"" []	CL:0002458	"" []	556586	\N	\N	EFO	2	EFO	conventional dendritic cell	langerin-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002458	"" []	1139277	\N	\N	EFO	3	EFO	dendritic cell	langerin-positive dermal dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002458	"" []	1139278	\N	\N	EFO	3	EFO	conventional dendritic cell	langerin-positive dermal dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002458	"" []	1139279	\N	\N	EFO	3	EFO	leukocyte	langerin-positive dermal dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002458	"" []	1139280	\N	\N	EFO	3	EFO	myeloid cell	langerin-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002458	"" []	2022312	\N	\N	EFO	4	EFO	dendritic cell	langerin-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002458	"" []	2022311	\N	\N	EFO	4	EFO	leukocyte	langerin-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002458	"" []	4132476	\N	\N	EFO	6	EFO	hematopoietic cell	langerin-positive dermal dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002458	"" []	2022314	\N	\N	EFO	4	EFO	hematopoietic cell	langerin-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002458	"" []	2999210	\N	\N	EFO	5	EFO	leukocyte	langerin-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002458	"" []	3176794	\N	\N	EFO	5	EFO	hematopoietic cell	langerin-positive dermal dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002458	"" []	5059289	\N	\N	EFO	7	EFO	somatic cell	langerin-positive dermal dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002458	"" []	4387380	\N	\N	EFO	6	EFO	cell type	langerin-positive dermal dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002458	"" []	5408408	\N	\N	EFO	7	EFO	material entity	langerin-positive dermal dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002458	"" []	6147346	\N	\N	EFO	8	EFO	experimental factor	langerin-positive dermal dendritic cell
CL:0002459	\N	\N	"" []	CL:0002459	"" []	63473	\N	\N	EFO	0	EFO	langerin-negative dermal  dendritic cell	langerin-negative dermal  dendritic cell
CL:0001006	CL:0002459	\N	"" []	CL:0002459	"" []	203568	\N	\N	EFO	1	EFO	dermal dendritic cell	langerin-negative dermal  dendritic cell
CL:0001006	CL:0002459	\N	"" []	CL:0002459	"" []	203569	\N	\N	EFO	1	EFO	dermal dendritic cell	langerin-negative dermal  dendritic cell
CL:0000990	CL:0001006	\N	"" []	CL:0002459	"" []	556587	\N	\N	EFO	2	EFO	conventional dendritic cell	langerin-negative dermal  dendritic cell
CL:0002465	CL:0001006	\N	"" []	CL:0002459	"" []	556588	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	langerin-negative dermal  dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002459	"" []	1139282	\N	\N	EFO	3	EFO	dendritic cell	langerin-negative dermal  dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002459	"" []	1139283	\N	\N	EFO	3	EFO	conventional dendritic cell	langerin-negative dermal  dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002459	"" []	2022316	\N	\N	EFO	4	EFO	leukocyte	langerin-negative dermal  dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002459	"" []	2022317	\N	\N	EFO	4	EFO	dendritic cell	langerin-negative dermal  dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002459	"" []	3176797	\N	\N	EFO	5	EFO	hematopoietic cell	langerin-negative dermal  dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002459	"" []	3176798	\N	\N	EFO	5	EFO	leukocyte	langerin-negative dermal  dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002459	"" []	4387381	\N	\N	EFO	6	EFO	cell type	langerin-negative dermal  dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002459	"" []	4387382	\N	\N	EFO	6	EFO	hematopoietic cell	langerin-negative dermal  dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002459	"" []	5408409	\N	\N	EFO	7	EFO	material entity	langerin-negative dermal  dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002459	"" []	5408410	\N	\N	EFO	7	EFO	somatic cell	langerin-negative dermal  dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002459	"" []	6147347	\N	\N	EFO	8	EFO	experimental factor	langerin-negative dermal  dendritic cell
CL:0002460	\N	\N	"" []	CL:0002460	"" []	63474	\N	\N	EFO	0	EFO	CD8alpha-negative thymic conventional dendritic cell	CD8alpha-negative thymic conventional dendritic cell
CL:0000941	CL:0002460	\N	"" []	CL:0002460	"" []	203570	\N	\N	EFO	1	EFO	thymic conventional dendritic cell	CD8alpha-negative thymic conventional dendritic cell
CL:0000941	CL:0002460	\N	"" []	CL:0002460	"" []	203571	\N	\N	EFO	1	EFO	thymic conventional dendritic cell	CD8alpha-negative thymic conventional dendritic cell
CL:0000990	CL:0000941	\N	"" []	CL:0002460	"" []	556589	\N	\N	EFO	2	EFO	conventional dendritic cell	CD8alpha-negative thymic conventional dendritic cell
CL:0000990	CL:0000941	\N	"" []	CL:0002460	"" []	556590	\N	\N	EFO	2	EFO	conventional dendritic cell	CD8alpha-negative thymic conventional dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002460	"" []	1139284	\N	\N	EFO	3	EFO	dendritic cell	CD8alpha-negative thymic conventional dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002460	"" []	1139285	\N	\N	EFO	3	EFO	dendritic cell	CD8alpha-negative thymic conventional dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002460	"" []	2022318	\N	\N	EFO	4	EFO	leukocyte	CD8alpha-negative thymic conventional dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002460	"" []	2022319	\N	\N	EFO	4	EFO	leukocyte	CD8alpha-negative thymic conventional dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002460	"" []	3176799	\N	\N	EFO	5	EFO	hematopoietic cell	CD8alpha-negative thymic conventional dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002460	"" []	3176800	\N	\N	EFO	5	EFO	hematopoietic cell	CD8alpha-negative thymic conventional dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002460	"" []	4387383	\N	\N	EFO	6	EFO	cell type	CD8alpha-negative thymic conventional dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002460	"" []	4387384	\N	\N	EFO	6	EFO	somatic cell	CD8alpha-negative thymic conventional dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002460	"" []	5408411	\N	\N	EFO	7	EFO	material entity	CD8alpha-negative thymic conventional dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002460	"" []	6147348	\N	\N	EFO	8	EFO	experimental factor	CD8alpha-negative thymic conventional dendritic cell
CL:0002461	\N	\N	"" []	CL:0002461	"" []	63475	\N	\N	EFO	0	EFO	CD103-positive dendritic cell	CD103-positive dendritic cell
CL:0000766	CL:0002461	\N	"" []	CL:0002461	"" []	203572	\N	\N	EFO	1	EFO	myeloid leukocyte	CD103-positive dendritic cell
CL:0000990	CL:0002461	\N	"" []	CL:0002461	"" []	203573	\N	\N	EFO	1	EFO	conventional dendritic cell	CD103-positive dendritic cell
CL:0000990	CL:0002461	\N	"" []	CL:0002461	"" []	203574	\N	\N	EFO	1	EFO	conventional dendritic cell	CD103-positive dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002461	"" []	556591	\N	\N	EFO	2	EFO	leukocyte	CD103-positive dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002461	"" []	556592	\N	\N	EFO	2	EFO	myeloid cell	CD103-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002461	"" []	556593	\N	\N	EFO	2	EFO	dendritic cell	CD103-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002461	"" []	556594	\N	\N	EFO	2	EFO	dendritic cell	CD103-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002461	"" []	2022322	\N	\N	EFO	4	EFO	hematopoietic cell	CD103-positive dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002461	"" []	1139287	\N	\N	EFO	3	EFO	hematopoietic cell	CD103-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002461	"" []	1139288	\N	\N	EFO	3	EFO	leukocyte	CD103-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002461	"" []	1139289	\N	\N	EFO	3	EFO	leukocyte	CD103-positive dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002461	"" []	2999211	\N	\N	EFO	5	EFO	somatic cell	CD103-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002461	"" []	2022321	\N	\N	EFO	4	EFO	hematopoietic cell	CD103-positive dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002461	"" []	3176801	\N	\N	EFO	5	EFO	cell type	CD103-positive dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002461	"" []	4387385	\N	\N	EFO	6	EFO	material entity	CD103-positive dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002461	"" []	5408412	\N	\N	EFO	7	EFO	experimental factor	CD103-positive dendritic cell
CL:0002462	\N	\N	"" []	CL:0002462	"" []	63476	\N	\N	EFO	0	EFO	adipose dendritic cell	adipose dendritic cell
CL:0002320	\N	\N	"A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone." [GOC:tfm, ISBN:0618947256]	CL:0002462	"" []	194252	\N	\N	EFO	0	EFO	connective tissue cell	adipose dendritic cell
CL:0000766	CL:0002462	\N	"" []	CL:0002462	"" []	203575	\N	\N	EFO	1	EFO	myeloid leukocyte	adipose dendritic cell
CL:0000990	CL:0002462	\N	"" []	CL:0002462	"" []	203576	\N	\N	EFO	1	EFO	conventional dendritic cell	adipose dendritic cell
CL:0000990	CL:0002462	\N	"" []	CL:0002462	"" []	203577	\N	\N	EFO	1	EFO	conventional dendritic cell	adipose dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002462	"" []	556595	\N	\N	EFO	2	EFO	leukocyte	adipose dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002462	"" []	556596	\N	\N	EFO	2	EFO	myeloid cell	adipose dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002462	"" []	556597	\N	\N	EFO	2	EFO	dendritic cell	adipose dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002462	"" []	556598	\N	\N	EFO	2	EFO	dendritic cell	adipose dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002462	"" []	2022325	\N	\N	EFO	4	EFO	hematopoietic cell	adipose dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002462	"" []	1139291	\N	\N	EFO	3	EFO	hematopoietic cell	adipose dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002462	"" []	1139292	\N	\N	EFO	3	EFO	leukocyte	adipose dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002462	"" []	1139293	\N	\N	EFO	3	EFO	leukocyte	adipose dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002462	"" []	2999212	\N	\N	EFO	5	EFO	somatic cell	adipose dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002462	"" []	2022324	\N	\N	EFO	4	EFO	hematopoietic cell	adipose dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002462	"" []	3176802	\N	\N	EFO	5	EFO	cell type	adipose dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002462	"" []	4387386	\N	\N	EFO	6	EFO	material entity	adipose dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002462	"" []	5408413	\N	\N	EFO	7	EFO	experimental factor	adipose dendritic cell
CL:0002463	\N	\N	"" []	CL:0002463	"" []	63477	\N	\N	EFO	0	EFO	SIRPa-positive adipose dendritic cell	SIRPa-positive adipose dendritic cell
CL:0002462	CL:0002463	\N	"" []	CL:0002463	"" []	203578	\N	\N	EFO	1	EFO	adipose dendritic cell	SIRPa-positive adipose dendritic cell
CL:0002462	CL:0002463	\N	"" []	CL:0002463	"" []	203579	\N	\N	EFO	1	EFO	adipose dendritic cell	SIRPa-positive adipose dendritic cell
CL:0000990	CL:0002462	\N	"" []	CL:0002463	"" []	556599	\N	\N	EFO	2	EFO	conventional dendritic cell	SIRPa-positive adipose dendritic cell
CL:0000766	CL:0002462	\N	"" []	CL:0002463	"" []	556600	\N	\N	EFO	2	EFO	myeloid leukocyte	SIRPa-positive adipose dendritic cell
CL:0000990	CL:0002462	\N	"" []	CL:0002463	"" []	556601	\N	\N	EFO	2	EFO	conventional dendritic cell	SIRPa-positive adipose dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002463	"" []	1139294	\N	\N	EFO	3	EFO	dendritic cell	SIRPa-positive adipose dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002463	"" []	1139295	\N	\N	EFO	3	EFO	leukocyte	SIRPa-positive adipose dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002463	"" []	1139296	\N	\N	EFO	3	EFO	myeloid cell	SIRPa-positive adipose dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002463	"" []	1139297	\N	\N	EFO	3	EFO	dendritic cell	SIRPa-positive adipose dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002463	"" []	2022326	\N	\N	EFO	4	EFO	leukocyte	SIRPa-positive adipose dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002463	"" []	3176805	\N	\N	EFO	5	EFO	hematopoietic cell	SIRPa-positive adipose dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002463	"" []	2022328	\N	\N	EFO	4	EFO	hematopoietic cell	SIRPa-positive adipose dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002463	"" []	2022329	\N	\N	EFO	4	EFO	leukocyte	SIRPa-positive adipose dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002463	"" []	3176803	\N	\N	EFO	5	EFO	hematopoietic cell	SIRPa-positive adipose dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002463	"" []	4132477	\N	\N	EFO	6	EFO	somatic cell	SIRPa-positive adipose dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002463	"" []	4387387	\N	\N	EFO	6	EFO	cell type	SIRPa-positive adipose dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002463	"" []	5408414	\N	\N	EFO	7	EFO	material entity	SIRPa-positive adipose dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002463	"" []	6147349	\N	\N	EFO	8	EFO	experimental factor	SIRPa-positive adipose dendritic cell
CL:0002464	\N	\N	"" []	CL:0002464	"" []	63478	\N	\N	EFO	0	EFO	SIRPa-negative adipose dendritic cell	SIRPa-negative adipose dendritic cell
CL:0002462	CL:0002464	\N	"" []	CL:0002464	"" []	203580	\N	\N	EFO	1	EFO	adipose dendritic cell	SIRPa-negative adipose dendritic cell
CL:0002462	CL:0002464	\N	"" []	CL:0002464	"" []	203581	\N	\N	EFO	1	EFO	adipose dendritic cell	SIRPa-negative adipose dendritic cell
CL:0000990	CL:0002462	\N	"" []	CL:0002464	"" []	556602	\N	\N	EFO	2	EFO	conventional dendritic cell	SIRPa-negative adipose dendritic cell
CL:0000766	CL:0002462	\N	"" []	CL:0002464	"" []	556603	\N	\N	EFO	2	EFO	myeloid leukocyte	SIRPa-negative adipose dendritic cell
CL:0000990	CL:0002462	\N	"" []	CL:0002464	"" []	556604	\N	\N	EFO	2	EFO	conventional dendritic cell	SIRPa-negative adipose dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002464	"" []	1139298	\N	\N	EFO	3	EFO	dendritic cell	SIRPa-negative adipose dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002464	"" []	1139299	\N	\N	EFO	3	EFO	leukocyte	SIRPa-negative adipose dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002464	"" []	1139300	\N	\N	EFO	3	EFO	myeloid cell	SIRPa-negative adipose dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002464	"" []	1139301	\N	\N	EFO	3	EFO	dendritic cell	SIRPa-negative adipose dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002464	"" []	2022330	\N	\N	EFO	4	EFO	leukocyte	SIRPa-negative adipose dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002464	"" []	3176808	\N	\N	EFO	5	EFO	hematopoietic cell	SIRPa-negative adipose dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002464	"" []	2022332	\N	\N	EFO	4	EFO	hematopoietic cell	SIRPa-negative adipose dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002464	"" []	2022333	\N	\N	EFO	4	EFO	leukocyte	SIRPa-negative adipose dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002464	"" []	3176806	\N	\N	EFO	5	EFO	hematopoietic cell	SIRPa-negative adipose dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002464	"" []	4132478	\N	\N	EFO	6	EFO	somatic cell	SIRPa-negative adipose dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002464	"" []	4387388	\N	\N	EFO	6	EFO	cell type	SIRPa-negative adipose dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002464	"" []	5408415	\N	\N	EFO	7	EFO	material entity	SIRPa-negative adipose dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002464	"" []	6147350	\N	\N	EFO	8	EFO	experimental factor	SIRPa-negative adipose dendritic cell
CL:0002465	\N	\N	"" []	CL:0002465	"" []	63479	\N	\N	EFO	0	EFO	CD11b-positive dendritic cell	CD11b-positive dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002465	"" []	203582	\N	\N	EFO	1	EFO	conventional dendritic cell	CD11b-positive dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002465	"" []	203583	\N	\N	EFO	1	EFO	conventional dendritic cell	CD11b-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002465	"" []	556605	\N	\N	EFO	2	EFO	dendritic cell	CD11b-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002465	"" []	556606	\N	\N	EFO	2	EFO	dendritic cell	CD11b-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002465	"" []	1139302	\N	\N	EFO	3	EFO	leukocyte	CD11b-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002465	"" []	1139303	\N	\N	EFO	3	EFO	leukocyte	CD11b-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002465	"" []	2022334	\N	\N	EFO	4	EFO	hematopoietic cell	CD11b-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002465	"" []	2022335	\N	\N	EFO	4	EFO	hematopoietic cell	CD11b-positive dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002465	"" []	3176809	\N	\N	EFO	5	EFO	cell type	CD11b-positive dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002465	"" []	3176810	\N	\N	EFO	5	EFO	somatic cell	CD11b-positive dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002465	"" []	4387389	\N	\N	EFO	6	EFO	material entity	CD11b-positive dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002465	"" []	5408416	\N	\N	EFO	7	EFO	experimental factor	CD11b-positive dendritic cell
CL:0002466	\N	\N	"" []	CL:0002466	"" []	63480	\N	\N	EFO	0	EFO	small intestine serosal dendritic cell	small intestine serosal dendritic cell
CL:0002465	CL:0002466	\N	"" []	CL:0002466	"" []	203584	\N	\N	EFO	1	EFO	CD11b-positive dendritic cell	small intestine serosal dendritic cell
CL:0002465	CL:0002466	\N	"" []	CL:0002466	"" []	203585	\N	\N	EFO	1	EFO	CD11b-positive dendritic cell	small intestine serosal dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002466	"" []	556607	\N	\N	EFO	2	EFO	conventional dendritic cell	small intestine serosal dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002466	"" []	556608	\N	\N	EFO	2	EFO	conventional dendritic cell	small intestine serosal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002466	"" []	1139304	\N	\N	EFO	3	EFO	dendritic cell	small intestine serosal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002466	"" []	1139305	\N	\N	EFO	3	EFO	dendritic cell	small intestine serosal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002466	"" []	2022336	\N	\N	EFO	4	EFO	leukocyte	small intestine serosal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002466	"" []	2022337	\N	\N	EFO	4	EFO	leukocyte	small intestine serosal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002466	"" []	3176811	\N	\N	EFO	5	EFO	hematopoietic cell	small intestine serosal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002466	"" []	3176812	\N	\N	EFO	5	EFO	hematopoietic cell	small intestine serosal dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002466	"" []	4387390	\N	\N	EFO	6	EFO	cell type	small intestine serosal dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002466	"" []	4387391	\N	\N	EFO	6	EFO	somatic cell	small intestine serosal dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002466	"" []	5408417	\N	\N	EFO	7	EFO	material entity	small intestine serosal dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002466	"" []	6147351	\N	\N	EFO	8	EFO	experimental factor	small intestine serosal dendritic cell
CL:0002467	\N	\N	"" []	CL:0002467	"" []	63481	\N	\N	EFO	0	EFO	Gr1-high myeloid suppressor cell	Gr1-high myeloid suppressor cell
CL:0000889	CL:0002467	\N	"" []	CL:0002467	"" []	203586	\N	\N	EFO	1	EFO	myeloid suppressor cell	Gr1-high myeloid suppressor cell
CL:0000889	CL:0002467	\N	"" []	CL:0002467	"" []	203587	\N	\N	EFO	1	EFO	myeloid suppressor cell	Gr1-high myeloid suppressor cell
CL:0000766	CL:0000889	\N	"" []	CL:0002467	"" []	556609	\N	\N	EFO	2	EFO	myeloid leukocyte	Gr1-high myeloid suppressor cell
CL:0000766	CL:0000889	\N	"" []	CL:0002467	"" []	556610	\N	\N	EFO	2	EFO	myeloid leukocyte	Gr1-high myeloid suppressor cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002467	"" []	1139306	\N	\N	EFO	3	EFO	leukocyte	Gr1-high myeloid suppressor cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002467	"" []	1139307	\N	\N	EFO	3	EFO	leukocyte	Gr1-high myeloid suppressor cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002467	"" []	1139308	\N	\N	EFO	3	EFO	myeloid cell	Gr1-high myeloid suppressor cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002467	"" []	2022338	\N	\N	EFO	4	EFO	hematopoietic cell	Gr1-high myeloid suppressor cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002467	"" []	2022339	\N	\N	EFO	4	EFO	hematopoietic cell	Gr1-high myeloid suppressor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002467	"" []	2022340	\N	\N	EFO	4	EFO	hematopoietic cell	Gr1-high myeloid suppressor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002467	"" []	3176813	\N	\N	EFO	5	EFO	cell type	Gr1-high myeloid suppressor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002467	"" []	3176814	\N	\N	EFO	5	EFO	somatic cell	Gr1-high myeloid suppressor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002467	"" []	4387392	\N	\N	EFO	6	EFO	material entity	Gr1-high myeloid suppressor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002467	"" []	5408418	\N	\N	EFO	7	EFO	experimental factor	Gr1-high myeloid suppressor cell
CL:0002468	\N	\N	"" []	CL:0002468	"" []	63482	\N	\N	EFO	0	EFO	Gr1-low myeloid suppressor cell	Gr1-low myeloid suppressor cell
CL:0000889	CL:0002468	\N	"" []	CL:0002468	"" []	203588	\N	\N	EFO	1	EFO	myeloid suppressor cell	Gr1-low myeloid suppressor cell
CL:0000889	CL:0002468	\N	"" []	CL:0002468	"" []	203589	\N	\N	EFO	1	EFO	myeloid suppressor cell	Gr1-low myeloid suppressor cell
CL:0000766	CL:0000889	\N	"" []	CL:0002468	"" []	556611	\N	\N	EFO	2	EFO	myeloid leukocyte	Gr1-low myeloid suppressor cell
CL:0000766	CL:0000889	\N	"" []	CL:0002468	"" []	556612	\N	\N	EFO	2	EFO	myeloid leukocyte	Gr1-low myeloid suppressor cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002468	"" []	1139309	\N	\N	EFO	3	EFO	leukocyte	Gr1-low myeloid suppressor cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002468	"" []	1139310	\N	\N	EFO	3	EFO	leukocyte	Gr1-low myeloid suppressor cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002468	"" []	1139311	\N	\N	EFO	3	EFO	myeloid cell	Gr1-low myeloid suppressor cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002468	"" []	2022341	\N	\N	EFO	4	EFO	hematopoietic cell	Gr1-low myeloid suppressor cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002468	"" []	2022342	\N	\N	EFO	4	EFO	hematopoietic cell	Gr1-low myeloid suppressor cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002468	"" []	2022343	\N	\N	EFO	4	EFO	hematopoietic cell	Gr1-low myeloid suppressor cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002468	"" []	3176815	\N	\N	EFO	5	EFO	cell type	Gr1-low myeloid suppressor cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002468	"" []	3176816	\N	\N	EFO	5	EFO	somatic cell	Gr1-low myeloid suppressor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002468	"" []	4387393	\N	\N	EFO	6	EFO	material entity	Gr1-low myeloid suppressor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002468	"" []	5408419	\N	\N	EFO	7	EFO	experimental factor	Gr1-low myeloid suppressor cell
CL:0002469	\N	\N	"" []	CL:0002469	"" []	63483	\N	\N	EFO	0	EFO	MHC-II-negative classical monocyte	MHC-II-negative classical monocyte
CL:0002395	CL:0002469	\N	"" []	CL:0002469	"" []	203590	\N	\N	EFO	1	EFO	Gr1-high classical monocyte	MHC-II-negative classical monocyte
CL:0002395	CL:0002469	\N	"" []	CL:0002469	"" []	203591	\N	\N	EFO	1	EFO	Gr1-high classical monocyte	MHC-II-negative classical monocyte
CL:0000860	CL:0002395	\N	"" []	CL:0002469	"" []	556613	\N	\N	EFO	2	EFO	classical monocyte	MHC-II-negative classical monocyte
CL:0000860	CL:0002395	\N	"" []	CL:0002469	"" []	556614	\N	\N	EFO	2	EFO	classical monocyte	MHC-II-negative classical monocyte
CL:0001022	CL:0002395	\N	"" []	CL:0002469	"" []	556615	\N	\N	EFO	2	EFO	CD115-positive monocyte	MHC-II-negative classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002469	"" []	1139312	\N	\N	EFO	3	EFO	monocyte	MHC-II-negative classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002469	"" []	1139313	\N	\N	EFO	3	EFO	monocyte	MHC-II-negative classical monocyte
CL:0000576	CL:0001022	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002469	"" []	1139314	\N	\N	EFO	3	EFO	monocyte	MHC-II-negative classical monocyte
CL:0000839	CL:0001022	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002469	"" []	1139315	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	MHC-II-negative classical monocyte
CL:0001019	CL:0001022	\N	"" []	CL:0002469	"" []	1139316	\N	\N	EFO	3	EFO	CD115-positive monocyte OR common dendritic progenitor	MHC-II-negative classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002469	"" []	2022344	\N	\N	EFO	4	EFO	myeloid leukocyte	MHC-II-negative classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002469	"" []	2022345	\N	\N	EFO	4	EFO	myeloid leukocyte	MHC-II-negative classical monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002469	"" []	2022346	\N	\N	EFO	4	EFO	mononuclear cell	MHC-II-negative classical monocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002469	"" []	2022347	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	MHC-II-negative classical monocyte
CL:0002031	CL:0001019	\N	"" []	CL:0002469	"" []	2022348	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	MHC-II-negative classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002469	"" []	3176817	\N	\N	EFO	5	EFO	leukocyte	MHC-II-negative classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002469	"" []	3176818	\N	\N	EFO	5	EFO	leukocyte	MHC-II-negative classical monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002469	"" []	3176819	\N	\N	EFO	5	EFO	myeloid cell	MHC-II-negative classical monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002469	"" []	3176820	\N	\N	EFO	5	EFO	nongranular leukocyte	MHC-II-negative classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002469	"" []	4387394	\N	\N	EFO	6	EFO	hematopoietic cell	MHC-II-negative classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002469	"" []	5408422	\N	\N	EFO	7	EFO	hematopoietic cell	MHC-II-negative classical monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002469	"" []	4387396	\N	\N	EFO	6	EFO	hematopoietic cell	MHC-II-negative classical monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002469	"" []	4387397	\N	\N	EFO	6	EFO	leukocyte	MHC-II-negative classical monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002469	"" []	5408420	\N	\N	EFO	7	EFO	cell type	MHC-II-negative classical monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002469	"" []	5996517	\N	\N	EFO	8	EFO	somatic cell	MHC-II-negative classical monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002469	"" []	6147352	\N	\N	EFO	8	EFO	material entity	MHC-II-negative classical monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002469	"" []	6631828	\N	\N	EFO	9	EFO	experimental factor	MHC-II-negative classical monocyte
CL:0002470	\N	\N	"" []	CL:0002470	"" []	63484	\N	\N	EFO	0	EFO	MHC-II-positive classical monocyte	MHC-II-positive classical monocyte
CL:0002395	CL:0002470	\N	"" []	CL:0002470	"" []	203592	\N	\N	EFO	1	EFO	Gr1-high classical monocyte	MHC-II-positive classical monocyte
CL:0002395	CL:0002470	\N	"" []	CL:0002470	"" []	203593	\N	\N	EFO	1	EFO	Gr1-high classical monocyte	MHC-II-positive classical monocyte
CL:0000860	CL:0002395	\N	"" []	CL:0002470	"" []	556616	\N	\N	EFO	2	EFO	classical monocyte	MHC-II-positive classical monocyte
CL:0000860	CL:0002395	\N	"" []	CL:0002470	"" []	556617	\N	\N	EFO	2	EFO	classical monocyte	MHC-II-positive classical monocyte
CL:0001022	CL:0002395	\N	"" []	CL:0002470	"" []	556618	\N	\N	EFO	2	EFO	CD115-positive monocyte	MHC-II-positive classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002470	"" []	1139317	\N	\N	EFO	3	EFO	monocyte	MHC-II-positive classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002470	"" []	1139318	\N	\N	EFO	3	EFO	monocyte	MHC-II-positive classical monocyte
CL:0000576	CL:0001022	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002470	"" []	1139319	\N	\N	EFO	3	EFO	monocyte	MHC-II-positive classical monocyte
CL:0000839	CL:0001022	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002470	"" []	1139320	\N	\N	EFO	3	EFO	myeloid lineage restricted progenitor cell	MHC-II-positive classical monocyte
CL:0001019	CL:0001022	\N	"" []	CL:0002470	"" []	1139321	\N	\N	EFO	3	EFO	CD115-positive monocyte OR common dendritic progenitor	MHC-II-positive classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002470	"" []	2022349	\N	\N	EFO	4	EFO	myeloid leukocyte	MHC-II-positive classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002470	"" []	2022350	\N	\N	EFO	4	EFO	myeloid leukocyte	MHC-II-positive classical monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002470	"" []	2022351	\N	\N	EFO	4	EFO	mononuclear cell	MHC-II-positive classical monocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002470	"" []	2022352	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	MHC-II-positive classical monocyte
CL:0002031	CL:0001019	\N	"" []	CL:0002470	"" []	2022353	\N	\N	EFO	4	EFO	hematopoietic lineage restricted progenitor cell	MHC-II-positive classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002470	"" []	3176821	\N	\N	EFO	5	EFO	leukocyte	MHC-II-positive classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002470	"" []	3176822	\N	\N	EFO	5	EFO	leukocyte	MHC-II-positive classical monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002470	"" []	3176823	\N	\N	EFO	5	EFO	myeloid cell	MHC-II-positive classical monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002470	"" []	3176824	\N	\N	EFO	5	EFO	nongranular leukocyte	MHC-II-positive classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002470	"" []	4387398	\N	\N	EFO	6	EFO	hematopoietic cell	MHC-II-positive classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002470	"" []	5408425	\N	\N	EFO	7	EFO	hematopoietic cell	MHC-II-positive classical monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002470	"" []	4387400	\N	\N	EFO	6	EFO	hematopoietic cell	MHC-II-positive classical monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002470	"" []	4387401	\N	\N	EFO	6	EFO	leukocyte	MHC-II-positive classical monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002470	"" []	5408423	\N	\N	EFO	7	EFO	cell type	MHC-II-positive classical monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002470	"" []	5996518	\N	\N	EFO	8	EFO	somatic cell	MHC-II-positive classical monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002470	"" []	6147353	\N	\N	EFO	8	EFO	material entity	MHC-II-positive classical monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002470	"" []	6631829	\N	\N	EFO	9	EFO	experimental factor	MHC-II-positive classical monocyte
CL:0002471	\N	\N	"" []	CL:0002471	"" []	63485	\N	\N	EFO	0	EFO	MHC-II-negative non-classical monocyte	MHC-II-negative non-classical monocyte
CL:0002058	CL:0002471	\N	"" []	CL:0002471	"" []	203594	\N	\N	EFO	1	EFO	Gr1-low non-classical monocyte	MHC-II-negative non-classical monocyte
CL:0002058	CL:0002471	\N	"" []	CL:0002471	"" []	203595	\N	\N	EFO	1	EFO	Gr1-low non-classical monocyte	MHC-II-negative non-classical monocyte
CL:0000875	CL:0002058	\N	"" []	CL:0002471	"" []	556619	\N	\N	EFO	2	EFO	non-classical monocyte	MHC-II-negative non-classical monocyte
CL:0000875	CL:0002058	\N	"" []	CL:0002471	"" []	556620	\N	\N	EFO	2	EFO	non-classical monocyte	MHC-II-negative non-classical monocyte
CL:0002398	CL:0002058	\N	"" []	CL:0002471	"" []	556621	\N	\N	EFO	2	EFO	Gr1-positive, CD43-positive monocyte	MHC-II-negative non-classical monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002471	"" []	1139322	\N	\N	EFO	3	EFO	monocyte	MHC-II-negative non-classical monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002471	"" []	1139323	\N	\N	EFO	3	EFO	monocyte	MHC-II-negative non-classical monocyte
CL:0001022	CL:0002398	\N	"" []	CL:0002471	"" []	1139324	\N	\N	EFO	3	EFO	CD115-positive monocyte	MHC-II-negative non-classical monocyte
CL:0002393	CL:0002398	\N	"" []	CL:0002471	"" []	1139325	\N	\N	EFO	3	EFO	intermediate monocyte	MHC-II-negative non-classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002471	"" []	2022354	\N	\N	EFO	4	EFO	myeloid leukocyte	MHC-II-negative non-classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002471	"" []	3176829	\N	\N	EFO	5	EFO	myeloid leukocyte	MHC-II-negative non-classical monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002471	"" []	3176830	\N	\N	EFO	5	EFO	mononuclear cell	MHC-II-negative non-classical monocyte
CL:0000576	CL:0001022	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002471	"" []	2022357	\N	\N	EFO	4	EFO	monocyte	MHC-II-negative non-classical monocyte
CL:0000839	CL:0001022	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002471	"" []	2022358	\N	\N	EFO	4	EFO	myeloid lineage restricted progenitor cell	MHC-II-negative non-classical monocyte
CL:0001019	CL:0001022	\N	"" []	CL:0002471	"" []	2022359	\N	\N	EFO	4	EFO	CD115-positive monocyte OR common dendritic progenitor	MHC-II-negative non-classical monocyte
CL:0000576	CL:0002393	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002471	"" []	2022360	\N	\N	EFO	4	EFO	monocyte	MHC-II-negative non-classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002471	"" []	3176825	\N	\N	EFO	5	EFO	leukocyte	MHC-II-negative non-classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002471	"" []	4132479	\N	\N	EFO	6	EFO	leukocyte	MHC-II-negative non-classical monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002471	"" []	4132480	\N	\N	EFO	6	EFO	myeloid cell	MHC-II-negative non-classical monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002471	"" []	4132481	\N	\N	EFO	6	EFO	nongranular leukocyte	MHC-II-negative non-classical monocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002471	"" []	3176831	\N	\N	EFO	5	EFO	hematopoietic lineage restricted progenitor cell	MHC-II-negative non-classical monocyte
CL:0002031	CL:0001019	\N	"" []	CL:0002471	"" []	3176832	\N	\N	EFO	5	EFO	hematopoietic lineage restricted progenitor cell	MHC-II-negative non-classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002471	"" []	4387402	\N	\N	EFO	6	EFO	hematopoietic cell	MHC-II-negative non-classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002471	"" []	5996520	\N	\N	EFO	8	EFO	hematopoietic cell	MHC-II-negative non-classical monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002471	"" []	5180839	\N	\N	EFO	7	EFO	hematopoietic cell	MHC-II-negative non-classical monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002471	"" []	5180840	\N	\N	EFO	7	EFO	leukocyte	MHC-II-negative non-classical monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002471	"" []	5408426	\N	\N	EFO	7	EFO	cell type	MHC-II-negative non-classical monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002471	"" []	6469806	\N	\N	EFO	9	EFO	somatic cell	MHC-II-negative non-classical monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002471	"" []	6147354	\N	\N	EFO	8	EFO	material entity	MHC-II-negative non-classical monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002471	"" []	6631830	\N	\N	EFO	9	EFO	experimental factor	MHC-II-negative non-classical monocyte
CL:0002472	\N	\N	"" []	CL:0002472	"" []	63486	\N	\N	EFO	0	EFO	MHC-II-low non-classical monocyte	MHC-II-low non-classical monocyte
CL:0002058	CL:0002472	\N	"" []	CL:0002472	"" []	203596	\N	\N	EFO	1	EFO	Gr1-low non-classical monocyte	MHC-II-low non-classical monocyte
CL:0002058	CL:0002472	\N	"" []	CL:0002472	"" []	203597	\N	\N	EFO	1	EFO	Gr1-low non-classical monocyte	MHC-II-low non-classical monocyte
CL:0000875	CL:0002058	\N	"" []	CL:0002472	"" []	556622	\N	\N	EFO	2	EFO	non-classical monocyte	MHC-II-low non-classical monocyte
CL:0000875	CL:0002058	\N	"" []	CL:0002472	"" []	556623	\N	\N	EFO	2	EFO	non-classical monocyte	MHC-II-low non-classical monocyte
CL:0002398	CL:0002058	\N	"" []	CL:0002472	"" []	556624	\N	\N	EFO	2	EFO	Gr1-positive, CD43-positive monocyte	MHC-II-low non-classical monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002472	"" []	1139326	\N	\N	EFO	3	EFO	monocyte	MHC-II-low non-classical monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002472	"" []	1139327	\N	\N	EFO	3	EFO	monocyte	MHC-II-low non-classical monocyte
CL:0001022	CL:0002398	\N	"" []	CL:0002472	"" []	1139328	\N	\N	EFO	3	EFO	CD115-positive monocyte	MHC-II-low non-classical monocyte
CL:0002393	CL:0002398	\N	"" []	CL:0002472	"" []	1139329	\N	\N	EFO	3	EFO	intermediate monocyte	MHC-II-low non-classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002472	"" []	2022361	\N	\N	EFO	4	EFO	myeloid leukocyte	MHC-II-low non-classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002472	"" []	3176837	\N	\N	EFO	5	EFO	myeloid leukocyte	MHC-II-low non-classical monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002472	"" []	3176838	\N	\N	EFO	5	EFO	mononuclear cell	MHC-II-low non-classical monocyte
CL:0000576	CL:0001022	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002472	"" []	2022364	\N	\N	EFO	4	EFO	monocyte	MHC-II-low non-classical monocyte
CL:0000839	CL:0001022	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002472	"" []	2022365	\N	\N	EFO	4	EFO	myeloid lineage restricted progenitor cell	MHC-II-low non-classical monocyte
CL:0001019	CL:0001022	\N	"" []	CL:0002472	"" []	2022366	\N	\N	EFO	4	EFO	CD115-positive monocyte OR common dendritic progenitor	MHC-II-low non-classical monocyte
CL:0000576	CL:0002393	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002472	"" []	2022367	\N	\N	EFO	4	EFO	monocyte	MHC-II-low non-classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002472	"" []	3176833	\N	\N	EFO	5	EFO	leukocyte	MHC-II-low non-classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002472	"" []	4132482	\N	\N	EFO	6	EFO	leukocyte	MHC-II-low non-classical monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002472	"" []	4132483	\N	\N	EFO	6	EFO	myeloid cell	MHC-II-low non-classical monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002472	"" []	4132484	\N	\N	EFO	6	EFO	nongranular leukocyte	MHC-II-low non-classical monocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002472	"" []	3176839	\N	\N	EFO	5	EFO	hematopoietic lineage restricted progenitor cell	MHC-II-low non-classical monocyte
CL:0002031	CL:0001019	\N	"" []	CL:0002472	"" []	3176840	\N	\N	EFO	5	EFO	hematopoietic lineage restricted progenitor cell	MHC-II-low non-classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002472	"" []	4387406	\N	\N	EFO	6	EFO	hematopoietic cell	MHC-II-low non-classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002472	"" []	5996522	\N	\N	EFO	8	EFO	hematopoietic cell	MHC-II-low non-classical monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002472	"" []	5180842	\N	\N	EFO	7	EFO	hematopoietic cell	MHC-II-low non-classical monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002472	"" []	5180843	\N	\N	EFO	7	EFO	leukocyte	MHC-II-low non-classical monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002472	"" []	5408428	\N	\N	EFO	7	EFO	cell type	MHC-II-low non-classical monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002472	"" []	6469807	\N	\N	EFO	9	EFO	somatic cell	MHC-II-low non-classical monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002472	"" []	6147355	\N	\N	EFO	8	EFO	material entity	MHC-II-low non-classical monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002472	"" []	6631831	\N	\N	EFO	9	EFO	experimental factor	MHC-II-low non-classical monocyte
CL:0002473	\N	\N	"" []	CL:0002473	"" []	63487	\N	\N	EFO	0	EFO	MHC-II-high non-classical monocyte	MHC-II-high non-classical monocyte
CL:0002058	CL:0002473	\N	"" []	CL:0002473	"" []	203598	\N	\N	EFO	1	EFO	Gr1-low non-classical monocyte	MHC-II-high non-classical monocyte
CL:0002058	CL:0002473	\N	"" []	CL:0002473	"" []	203599	\N	\N	EFO	1	EFO	Gr1-low non-classical monocyte	MHC-II-high non-classical monocyte
CL:0000875	CL:0002058	\N	"" []	CL:0002473	"" []	556625	\N	\N	EFO	2	EFO	non-classical monocyte	MHC-II-high non-classical monocyte
CL:0000875	CL:0002058	\N	"" []	CL:0002473	"" []	556626	\N	\N	EFO	2	EFO	non-classical monocyte	MHC-II-high non-classical monocyte
CL:0002398	CL:0002058	\N	"" []	CL:0002473	"" []	556627	\N	\N	EFO	2	EFO	Gr1-positive, CD43-positive monocyte	MHC-II-high non-classical monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002473	"" []	1139330	\N	\N	EFO	3	EFO	monocyte	MHC-II-high non-classical monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002473	"" []	1139331	\N	\N	EFO	3	EFO	monocyte	MHC-II-high non-classical monocyte
CL:0001022	CL:0002398	\N	"" []	CL:0002473	"" []	1139332	\N	\N	EFO	3	EFO	CD115-positive monocyte	MHC-II-high non-classical monocyte
CL:0002393	CL:0002398	\N	"" []	CL:0002473	"" []	1139333	\N	\N	EFO	3	EFO	intermediate monocyte	MHC-II-high non-classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002473	"" []	2022368	\N	\N	EFO	4	EFO	myeloid leukocyte	MHC-II-high non-classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002473	"" []	3176845	\N	\N	EFO	5	EFO	myeloid leukocyte	MHC-II-high non-classical monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002473	"" []	3176846	\N	\N	EFO	5	EFO	mononuclear cell	MHC-II-high non-classical monocyte
CL:0000576	CL:0001022	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002473	"" []	2022371	\N	\N	EFO	4	EFO	monocyte	MHC-II-high non-classical monocyte
CL:0000839	CL:0001022	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002473	"" []	2022372	\N	\N	EFO	4	EFO	myeloid lineage restricted progenitor cell	MHC-II-high non-classical monocyte
CL:0001019	CL:0001022	\N	"" []	CL:0002473	"" []	2022373	\N	\N	EFO	4	EFO	CD115-positive monocyte OR common dendritic progenitor	MHC-II-high non-classical monocyte
CL:0000576	CL:0002393	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002473	"" []	2022374	\N	\N	EFO	4	EFO	monocyte	MHC-II-high non-classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002473	"" []	3176841	\N	\N	EFO	5	EFO	leukocyte	MHC-II-high non-classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002473	"" []	4132485	\N	\N	EFO	6	EFO	leukocyte	MHC-II-high non-classical monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002473	"" []	4132486	\N	\N	EFO	6	EFO	myeloid cell	MHC-II-high non-classical monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002473	"" []	4132487	\N	\N	EFO	6	EFO	nongranular leukocyte	MHC-II-high non-classical monocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002473	"" []	3176847	\N	\N	EFO	5	EFO	hematopoietic lineage restricted progenitor cell	MHC-II-high non-classical monocyte
CL:0002031	CL:0001019	\N	"" []	CL:0002473	"" []	3176848	\N	\N	EFO	5	EFO	hematopoietic lineage restricted progenitor cell	MHC-II-high non-classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002473	"" []	4387410	\N	\N	EFO	6	EFO	hematopoietic cell	MHC-II-high non-classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002473	"" []	5996524	\N	\N	EFO	8	EFO	hematopoietic cell	MHC-II-high non-classical monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002473	"" []	5180845	\N	\N	EFO	7	EFO	hematopoietic cell	MHC-II-high non-classical monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002473	"" []	5180846	\N	\N	EFO	7	EFO	leukocyte	MHC-II-high non-classical monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002473	"" []	5408430	\N	\N	EFO	7	EFO	cell type	MHC-II-high non-classical monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002473	"" []	6469808	\N	\N	EFO	9	EFO	somatic cell	MHC-II-high non-classical monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002473	"" []	6147356	\N	\N	EFO	8	EFO	material entity	MHC-II-high non-classical monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002473	"" []	6631832	\N	\N	EFO	9	EFO	experimental factor	MHC-II-high non-classical monocyte
CL:0002474	\N	\N	"" []	CL:0002474	"" []	63488	\N	\N	EFO	0	EFO	lymphoid MHC-II-negative classical monocyte	lymphoid MHC-II-negative classical monocyte
CL:0002469	CL:0002474	\N	"" []	CL:0002474	"" []	203600	\N	\N	EFO	1	EFO	MHC-II-negative classical monocyte	lymphoid MHC-II-negative classical monocyte
CL:0002469	CL:0002474	\N	"" []	CL:0002474	"" []	203601	\N	\N	EFO	1	EFO	MHC-II-negative classical monocyte	lymphoid MHC-II-negative classical monocyte
CL:0002395	CL:0002469	\N	"" []	CL:0002474	"" []	556628	\N	\N	EFO	2	EFO	Gr1-high classical monocyte	lymphoid MHC-II-negative classical monocyte
CL:0002395	CL:0002469	\N	"" []	CL:0002474	"" []	556629	\N	\N	EFO	2	EFO	Gr1-high classical monocyte	lymphoid MHC-II-negative classical monocyte
CL:0000860	CL:0002395	\N	"" []	CL:0002474	"" []	1139334	\N	\N	EFO	3	EFO	classical monocyte	lymphoid MHC-II-negative classical monocyte
CL:0000860	CL:0002395	\N	"" []	CL:0002474	"" []	1139335	\N	\N	EFO	3	EFO	classical monocyte	lymphoid MHC-II-negative classical monocyte
CL:0001022	CL:0002395	\N	"" []	CL:0002474	"" []	1139336	\N	\N	EFO	3	EFO	CD115-positive monocyte	lymphoid MHC-II-negative classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002474	"" []	2022375	\N	\N	EFO	4	EFO	monocyte	lymphoid MHC-II-negative classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002474	"" []	2022376	\N	\N	EFO	4	EFO	monocyte	lymphoid MHC-II-negative classical monocyte
CL:0000576	CL:0001022	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002474	"" []	2022377	\N	\N	EFO	4	EFO	monocyte	lymphoid MHC-II-negative classical monocyte
CL:0000839	CL:0001022	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002474	"" []	2022378	\N	\N	EFO	4	EFO	myeloid lineage restricted progenitor cell	lymphoid MHC-II-negative classical monocyte
CL:0001019	CL:0001022	\N	"" []	CL:0002474	"" []	2022379	\N	\N	EFO	4	EFO	CD115-positive monocyte OR common dendritic progenitor	lymphoid MHC-II-negative classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002474	"" []	3176849	\N	\N	EFO	5	EFO	myeloid leukocyte	lymphoid MHC-II-negative classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002474	"" []	3176850	\N	\N	EFO	5	EFO	myeloid leukocyte	lymphoid MHC-II-negative classical monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002474	"" []	3176851	\N	\N	EFO	5	EFO	mononuclear cell	lymphoid MHC-II-negative classical monocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002474	"" []	3176852	\N	\N	EFO	5	EFO	hematopoietic lineage restricted progenitor cell	lymphoid MHC-II-negative classical monocyte
CL:0002031	CL:0001019	\N	"" []	CL:0002474	"" []	3176853	\N	\N	EFO	5	EFO	hematopoietic lineage restricted progenitor cell	lymphoid MHC-II-negative classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002474	"" []	4387414	\N	\N	EFO	6	EFO	leukocyte	lymphoid MHC-II-negative classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002474	"" []	4387415	\N	\N	EFO	6	EFO	leukocyte	lymphoid MHC-II-negative classical monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002474	"" []	4387416	\N	\N	EFO	6	EFO	myeloid cell	lymphoid MHC-II-negative classical monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002474	"" []	4387417	\N	\N	EFO	6	EFO	nongranular leukocyte	lymphoid MHC-II-negative classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002474	"" []	5408432	\N	\N	EFO	7	EFO	hematopoietic cell	lymphoid MHC-II-negative classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002474	"" []	6147359	\N	\N	EFO	8	EFO	hematopoietic cell	lymphoid MHC-II-negative classical monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002474	"" []	5408434	\N	\N	EFO	7	EFO	hematopoietic cell	lymphoid MHC-II-negative classical monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002474	"" []	5408435	\N	\N	EFO	7	EFO	leukocyte	lymphoid MHC-II-negative classical monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002474	"" []	6147357	\N	\N	EFO	8	EFO	cell type	lymphoid MHC-II-negative classical monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002474	"" []	6550344	\N	\N	EFO	9	EFO	somatic cell	lymphoid MHC-II-negative classical monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002474	"" []	6631833	\N	\N	EFO	9	EFO	material entity	lymphoid MHC-II-negative classical monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002474	"" []	6925312	\N	\N	EFO	10	EFO	experimental factor	lymphoid MHC-II-negative classical monocyte
CL:0002475	\N	\N	"" []	CL:0002475	"" []	63489	\N	\N	EFO	0	EFO	lymphoid MHC-II-negative non-classical monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0002469	CL:0002475	\N	"" []	CL:0002475	"" []	203602	\N	\N	EFO	1	EFO	MHC-II-negative classical monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0002471	CL:0002475	\N	"" []	CL:0002475	"" []	203603	\N	\N	EFO	1	EFO	MHC-II-negative non-classical monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0002471	CL:0002475	\N	"" []	CL:0002475	"" []	203604	\N	\N	EFO	1	EFO	MHC-II-negative non-classical monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0002395	CL:0002469	\N	"" []	CL:0002475	"" []	556630	\N	\N	EFO	2	EFO	Gr1-high classical monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0002058	CL:0002471	\N	"" []	CL:0002475	"" []	556631	\N	\N	EFO	2	EFO	Gr1-low non-classical monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0002058	CL:0002471	\N	"" []	CL:0002475	"" []	556632	\N	\N	EFO	2	EFO	Gr1-low non-classical monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000860	CL:0002395	\N	"" []	CL:0002475	"" []	1139337	\N	\N	EFO	3	EFO	classical monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0001022	CL:0002395	\N	"" []	CL:0002475	"" []	1139338	\N	\N	EFO	3	EFO	CD115-positive monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000875	CL:0002058	\N	"" []	CL:0002475	"" []	1139339	\N	\N	EFO	3	EFO	non-classical monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000875	CL:0002058	\N	"" []	CL:0002475	"" []	1139340	\N	\N	EFO	3	EFO	non-classical monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0002398	CL:0002058	\N	"" []	CL:0002475	"" []	1139341	\N	\N	EFO	3	EFO	Gr1-positive, CD43-positive monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000576	CL:0000860	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002475	"" []	2022380	\N	\N	EFO	4	EFO	monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000576	CL:0001022	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002475	"" []	3176859	\N	\N	EFO	5	EFO	monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000839	CL:0001022	\N	"A progenitor cell restricted to the myeloid lineage." []	CL:0002475	"" []	3176860	\N	\N	EFO	5	EFO	myeloid lineage restricted progenitor cell	lymphoid MHC-II-negative non-classical monocyte
CL:0001019	CL:0001022	\N	"" []	CL:0002475	"" []	3176861	\N	\N	EFO	5	EFO	CD115-positive monocyte OR common dendritic progenitor	lymphoid MHC-II-negative non-classical monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002475	"" []	2022384	\N	\N	EFO	4	EFO	monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000576	CL:0000875	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002475	"" []	2022385	\N	\N	EFO	4	EFO	monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0001022	CL:0002398	\N	"" []	CL:0002475	"" []	2022386	\N	\N	EFO	4	EFO	CD115-positive monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0002393	CL:0002398	\N	"" []	CL:0002475	"" []	2022387	\N	\N	EFO	4	EFO	intermediate monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002475	"" []	4132488	\N	\N	EFO	6	EFO	myeloid leukocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000842	CL:0000576	\N	"A leukocyte with a single non-segmented nucleus in the mature form." []	CL:0002475	"" []	4132489	\N	\N	EFO	6	EFO	mononuclear cell	lymphoid MHC-II-negative non-classical monocyte
CL:0002031	CL:0000839	\N	"" []	CL:0002475	"" []	4132490	\N	\N	EFO	6	EFO	hematopoietic lineage restricted progenitor cell	lymphoid MHC-II-negative non-classical monocyte
CL:0002031	CL:0001019	\N	"" []	CL:0002475	"" []	4132491	\N	\N	EFO	6	EFO	hematopoietic lineage restricted progenitor cell	lymphoid MHC-II-negative non-classical monocyte
CL:0000766	CL:0000576	\N	"" []	CL:0002475	"" []	3176858	\N	\N	EFO	5	EFO	myeloid leukocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000576	CL:0002393	\N	"Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []	CL:0002475	"" []	3176862	\N	\N	EFO	5	EFO	monocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002475	"" []	5180847	\N	\N	EFO	7	EFO	leukocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002475	"" []	5180848	\N	\N	EFO	7	EFO	myeloid cell	lymphoid MHC-II-negative non-classical monocyte
CL:0002087	CL:0000842	\N	"" []	CL:0002475	"" []	5180849	\N	\N	EFO	7	EFO	nongranular leukocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002475	"" []	4387421	\N	\N	EFO	6	EFO	leukocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002475	"" []	6550346	\N	\N	EFO	9	EFO	hematopoietic cell	lymphoid MHC-II-negative non-classical monocyte
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002475	"" []	5996526	\N	\N	EFO	8	EFO	hematopoietic cell	lymphoid MHC-II-negative non-classical monocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002475	"" []	5996527	\N	\N	EFO	8	EFO	leukocyte	lymphoid MHC-II-negative non-classical monocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002475	"" []	5408439	\N	\N	EFO	7	EFO	hematopoietic cell	lymphoid MHC-II-negative non-classical monocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002475	"" []	6848211	\N	\N	EFO	10	EFO	somatic cell	lymphoid MHC-II-negative non-classical monocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002475	"" []	6147361	\N	\N	EFO	8	EFO	cell type	lymphoid MHC-II-negative non-classical monocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002475	"" []	6631834	\N	\N	EFO	9	EFO	material entity	lymphoid MHC-II-negative non-classical monocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002475	"" []	6925313	\N	\N	EFO	10	EFO	experimental factor	lymphoid MHC-II-negative non-classical monocyte
CL:0002476	\N	\N	"" []	CL:0002476	"" []	63490	\N	\N	EFO	0	EFO	bone marrow macrophage	bone marrow macrophage
CL:1001610	\N	\N	"Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes." [NPX:PDR]	CL:0002476	"" []	194253	\N	\N	EFO	0	EFO	bone marrow hematopoietic cell	bone marrow macrophage
CL:0000864	CL:0002476	\N	"" []	CL:0002476	"" []	203605	\N	\N	EFO	1	EFO	tissue-resident macrophage	bone marrow macrophage
CL:0000864	CL:0002476	\N	"" []	CL:0002476	"" []	203606	\N	\N	EFO	1	EFO	tissue-resident macrophage	bone marrow macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002476	"" []	556633	\N	\N	EFO	2	EFO	macrophage	bone marrow macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002476	"" []	556634	\N	\N	EFO	2	EFO	macrophage	bone marrow macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0002476	"" []	1139342	\N	\N	EFO	3	EFO	myeloid leukocyte	bone marrow macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0002476	"" []	1139343	\N	\N	EFO	3	EFO	myeloid leukocyte	bone marrow macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002476	"" []	2022388	\N	\N	EFO	4	EFO	leukocyte	bone marrow macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002476	"" []	2022389	\N	\N	EFO	4	EFO	leukocyte	bone marrow macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002476	"" []	2022390	\N	\N	EFO	4	EFO	myeloid cell	bone marrow macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002476	"" []	3176863	\N	\N	EFO	5	EFO	hematopoietic cell	bone marrow macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002476	"" []	3176864	\N	\N	EFO	5	EFO	hematopoietic cell	bone marrow macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002476	"" []	3176865	\N	\N	EFO	5	EFO	hematopoietic cell	bone marrow macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002476	"" []	4387422	\N	\N	EFO	6	EFO	cell type	bone marrow macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002476	"" []	4387423	\N	\N	EFO	6	EFO	somatic cell	bone marrow macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002476	"" []	5408440	\N	\N	EFO	7	EFO	material entity	bone marrow macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002476	"" []	6147362	\N	\N	EFO	8	EFO	experimental factor	bone marrow macrophage
CL:0002477	\N	\N	"" []	CL:0002477	"" []	63491	\N	\N	EFO	0	EFO	adipose macrophage	adipose macrophage
CL:0000864	CL:0002477	\N	"" []	CL:0002477	"" []	203607	\N	\N	EFO	1	EFO	tissue-resident macrophage	adipose macrophage
CL:0000864	CL:0002477	\N	"" []	CL:0002477	"" []	203608	\N	\N	EFO	1	EFO	tissue-resident macrophage	adipose macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002477	"" []	556635	\N	\N	EFO	2	EFO	macrophage	adipose macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002477	"" []	556636	\N	\N	EFO	2	EFO	macrophage	adipose macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0002477	"" []	1139344	\N	\N	EFO	3	EFO	myeloid leukocyte	adipose macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0002477	"" []	1139345	\N	\N	EFO	3	EFO	myeloid leukocyte	adipose macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002477	"" []	2022391	\N	\N	EFO	4	EFO	leukocyte	adipose macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002477	"" []	2022392	\N	\N	EFO	4	EFO	leukocyte	adipose macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002477	"" []	2022393	\N	\N	EFO	4	EFO	myeloid cell	adipose macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002477	"" []	3176866	\N	\N	EFO	5	EFO	hematopoietic cell	adipose macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002477	"" []	3176867	\N	\N	EFO	5	EFO	hematopoietic cell	adipose macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002477	"" []	3176868	\N	\N	EFO	5	EFO	hematopoietic cell	adipose macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002477	"" []	4387424	\N	\N	EFO	6	EFO	cell type	adipose macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002477	"" []	4387425	\N	\N	EFO	6	EFO	somatic cell	adipose macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002477	"" []	5408441	\N	\N	EFO	7	EFO	material entity	adipose macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002477	"" []	6147363	\N	\N	EFO	8	EFO	experimental factor	adipose macrophage
CL:0002478	\N	\N	"" []	CL:0002478	"" []	63492	\N	\N	EFO	0	EFO	F4/80-negative adipose macrophage	F4/80-negative adipose macrophage
CL:0002477	CL:0002478	\N	"" []	CL:0002478	"" []	203609	\N	\N	EFO	1	EFO	adipose macrophage	F4/80-negative adipose macrophage
CL:0002477	CL:0002478	\N	"" []	CL:0002478	"" []	203610	\N	\N	EFO	1	EFO	adipose macrophage	F4/80-negative adipose macrophage
CL:0000864	CL:0002477	\N	"" []	CL:0002478	"" []	556637	\N	\N	EFO	2	EFO	tissue-resident macrophage	F4/80-negative adipose macrophage
CL:0000864	CL:0002477	\N	"" []	CL:0002478	"" []	556638	\N	\N	EFO	2	EFO	tissue-resident macrophage	F4/80-negative adipose macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002478	"" []	1139346	\N	\N	EFO	3	EFO	macrophage	F4/80-negative adipose macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002478	"" []	1139347	\N	\N	EFO	3	EFO	macrophage	F4/80-negative adipose macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0002478	"" []	2022394	\N	\N	EFO	4	EFO	myeloid leukocyte	F4/80-negative adipose macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0002478	"" []	2022395	\N	\N	EFO	4	EFO	myeloid leukocyte	F4/80-negative adipose macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002478	"" []	3176869	\N	\N	EFO	5	EFO	leukocyte	F4/80-negative adipose macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002478	"" []	3176870	\N	\N	EFO	5	EFO	leukocyte	F4/80-negative adipose macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002478	"" []	3176871	\N	\N	EFO	5	EFO	myeloid cell	F4/80-negative adipose macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002478	"" []	4387426	\N	\N	EFO	6	EFO	hematopoietic cell	F4/80-negative adipose macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002478	"" []	4387427	\N	\N	EFO	6	EFO	hematopoietic cell	F4/80-negative adipose macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002478	"" []	4387428	\N	\N	EFO	6	EFO	hematopoietic cell	F4/80-negative adipose macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002478	"" []	5408442	\N	\N	EFO	7	EFO	cell type	F4/80-negative adipose macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002478	"" []	5408443	\N	\N	EFO	7	EFO	somatic cell	F4/80-negative adipose macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002478	"" []	6147364	\N	\N	EFO	8	EFO	material entity	F4/80-negative adipose macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002478	"" []	6631835	\N	\N	EFO	9	EFO	experimental factor	F4/80-negative adipose macrophage
CL:0002479	\N	\N	"" []	CL:0002479	"" []	63493	\N	\N	EFO	0	EFO	F4/80-positive adipose macrophage	F4/80-positive adipose macrophage
CL:0002477	CL:0002479	\N	"" []	CL:0002479	"" []	203611	\N	\N	EFO	1	EFO	adipose macrophage	F4/80-positive adipose macrophage
CL:0002477	CL:0002479	\N	"" []	CL:0002479	"" []	203612	\N	\N	EFO	1	EFO	adipose macrophage	F4/80-positive adipose macrophage
CL:0000864	CL:0002477	\N	"" []	CL:0002479	"" []	556639	\N	\N	EFO	2	EFO	tissue-resident macrophage	F4/80-positive adipose macrophage
CL:0000864	CL:0002477	\N	"" []	CL:0002479	"" []	556640	\N	\N	EFO	2	EFO	tissue-resident macrophage	F4/80-positive adipose macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002479	"" []	1139348	\N	\N	EFO	3	EFO	macrophage	F4/80-positive adipose macrophage
CL:0000235	CL:0000864	\N	"Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells." []	CL:0002479	"" []	1139349	\N	\N	EFO	3	EFO	macrophage	F4/80-positive adipose macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0002479	"" []	2022396	\N	\N	EFO	4	EFO	myeloid leukocyte	F4/80-positive adipose macrophage
CL:0000766	CL:0000235	\N	"" []	CL:0002479	"" []	2022397	\N	\N	EFO	4	EFO	myeloid leukocyte	F4/80-positive adipose macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002479	"" []	3176872	\N	\N	EFO	5	EFO	leukocyte	F4/80-positive adipose macrophage
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002479	"" []	3176873	\N	\N	EFO	5	EFO	leukocyte	F4/80-positive adipose macrophage
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002479	"" []	3176874	\N	\N	EFO	5	EFO	myeloid cell	F4/80-positive adipose macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002479	"" []	4387429	\N	\N	EFO	6	EFO	hematopoietic cell	F4/80-positive adipose macrophage
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002479	"" []	4387430	\N	\N	EFO	6	EFO	hematopoietic cell	F4/80-positive adipose macrophage
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002479	"" []	4387431	\N	\N	EFO	6	EFO	hematopoietic cell	F4/80-positive adipose macrophage
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002479	"" []	5408444	\N	\N	EFO	7	EFO	cell type	F4/80-positive adipose macrophage
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002479	"" []	5408445	\N	\N	EFO	7	EFO	somatic cell	F4/80-positive adipose macrophage
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002479	"" []	6147365	\N	\N	EFO	8	EFO	material entity	F4/80-positive adipose macrophage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002479	"" []	6631836	\N	\N	EFO	9	EFO	experimental factor	F4/80-positive adipose macrophage
CL:0002489	\N	\N	"" []	CL:0002489	"" []	63494	\N	\N	EFO	0	EFO	double negative thymocyte	double negative thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002489	"" []	203613	\N	\N	EFO	1	EFO	thymocyte	double negative thymocyte
CL:0000893	CL:0002489	\N	"An immature T cell located in the thymus." []	CL:0002489	"" []	203614	\N	\N	EFO	1	EFO	thymocyte	double negative thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002489	"" []	556641	\N	\N	EFO	2	EFO	immature T cell	double negative thymocyte
CL:0002420	CL:0000893	\N	"" []	CL:0002489	"" []	556642	\N	\N	EFO	2	EFO	immature T cell	double negative thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002489	"" []	1139350	\N	\N	EFO	3	EFO	T cell	double negative thymocyte
CL:0000084	CL:0002420	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002489	"" []	1139351	\N	\N	EFO	3	EFO	T cell	double negative thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002489	"" []	2022398	\N	\N	EFO	4	EFO	lymphocyte	double negative thymocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002489	"" []	2022399	\N	\N	EFO	4	EFO	lymphocyte	double negative thymocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002489	"" []	3176875	\N	\N	EFO	5	EFO	leukocyte	double negative thymocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002489	"" []	3176876	\N	\N	EFO	5	EFO	nongranular leukocyte	double negative thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002489	"" []	4387432	\N	\N	EFO	6	EFO	hematopoietic cell	double negative thymocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002489	"" []	4387433	\N	\N	EFO	6	EFO	leukocyte	double negative thymocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002489	"" []	5408446	\N	\N	EFO	7	EFO	cell type	double negative thymocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002489	"" []	5408447	\N	\N	EFO	7	EFO	hematopoietic cell	double negative thymocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002489	"" []	6147366	\N	\N	EFO	8	EFO	material entity	double negative thymocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002489	"" []	6147367	\N	\N	EFO	8	EFO	somatic cell	double negative thymocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002489	"" []	6631837	\N	\N	EFO	9	EFO	experimental factor	double negative thymocyte
CL:0002496	\N	\N	"" []	CL:0002496	"" []	63495	\N	\N	EFO	0	EFO	intraepithelial lymphocyte	intraepithelial lymphocyte
CL:0002419	CL:0002496	\N	"" []	CL:0002496	"" []	203615	\N	\N	EFO	1	EFO	mature T cell	intraepithelial lymphocyte
CL:0002419	CL:0002496	\N	"" []	CL:0002496	"" []	203616	\N	\N	EFO	1	EFO	mature T cell	intraepithelial lymphocyte
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002496	"" []	556643	\N	\N	EFO	2	EFO	T cell	intraepithelial lymphocyte
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002496	"" []	556644	\N	\N	EFO	2	EFO	T cell	intraepithelial lymphocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002496	"" []	1139352	\N	\N	EFO	3	EFO	lymphocyte	intraepithelial lymphocyte
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002496	"" []	1139353	\N	\N	EFO	3	EFO	lymphocyte	intraepithelial lymphocyte
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002496	"" []	2022400	\N	\N	EFO	4	EFO	leukocyte	intraepithelial lymphocyte
CL:0002087	CL:0000542	\N	"" []	CL:0002496	"" []	2022401	\N	\N	EFO	4	EFO	nongranular leukocyte	intraepithelial lymphocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002496	"" []	3176877	\N	\N	EFO	5	EFO	hematopoietic cell	intraepithelial lymphocyte
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002496	"" []	3176878	\N	\N	EFO	5	EFO	leukocyte	intraepithelial lymphocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002496	"" []	4387434	\N	\N	EFO	6	EFO	cell type	intraepithelial lymphocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002496	"" []	4387435	\N	\N	EFO	6	EFO	hematopoietic cell	intraepithelial lymphocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002496	"" []	5408448	\N	\N	EFO	7	EFO	material entity	intraepithelial lymphocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002496	"" []	5408449	\N	\N	EFO	7	EFO	somatic cell	intraepithelial lymphocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002496	"" []	6147368	\N	\N	EFO	8	EFO	experimental factor	intraepithelial lymphocyte
CL:0002505	\N	\N	"" []	CL:0002505	"" []	63496	\N	\N	EFO	0	EFO	liver CD103-negative dendritic cell	liver CD103-negative dendritic cell
CL:0002454	CL:0002505	\N	"" []	CL:0002505	"" []	203617	\N	\N	EFO	1	EFO	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell	liver CD103-negative dendritic cell
CL:0002454	CL:0002505	\N	"" []	CL:0002505	"" []	203618	\N	\N	EFO	1	EFO	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell	liver CD103-negative dendritic cell
CL:0002465	CL:0002454	\N	"" []	CL:0002505	"" []	556645	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	liver CD103-negative dendritic cell
CL:0002465	CL:0002454	\N	"" []	CL:0002505	"" []	556646	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	liver CD103-negative dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002505	"" []	1139354	\N	\N	EFO	3	EFO	conventional dendritic cell	liver CD103-negative dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002505	"" []	1139355	\N	\N	EFO	3	EFO	conventional dendritic cell	liver CD103-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002505	"" []	2022402	\N	\N	EFO	4	EFO	dendritic cell	liver CD103-negative dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002505	"" []	2022403	\N	\N	EFO	4	EFO	dendritic cell	liver CD103-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002505	"" []	3176879	\N	\N	EFO	5	EFO	leukocyte	liver CD103-negative dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002505	"" []	3176880	\N	\N	EFO	5	EFO	leukocyte	liver CD103-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002505	"" []	4387436	\N	\N	EFO	6	EFO	hematopoietic cell	liver CD103-negative dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002505	"" []	4387437	\N	\N	EFO	6	EFO	hematopoietic cell	liver CD103-negative dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002505	"" []	5408450	\N	\N	EFO	7	EFO	cell type	liver CD103-negative dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002505	"" []	5408451	\N	\N	EFO	7	EFO	somatic cell	liver CD103-negative dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002505	"" []	6147369	\N	\N	EFO	8	EFO	material entity	liver CD103-negative dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002505	"" []	6631838	\N	\N	EFO	9	EFO	experimental factor	liver CD103-negative dendritic cell
CL:0002506	\N	\N	"" []	CL:0002506	"" []	63497	\N	\N	EFO	0	EFO	liver CD103-positive dendritic cell	liver CD103-positive dendritic cell
CL:0002454	CL:0002506	\N	"" []	CL:0002506	"" []	203619	\N	\N	EFO	1	EFO	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell	liver CD103-positive dendritic cell
CL:0002454	CL:0002506	\N	"" []	CL:0002506	"" []	203620	\N	\N	EFO	1	EFO	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell	liver CD103-positive dendritic cell
CL:0002461	CL:0002506	\N	"" []	CL:0002506	"" []	203621	\N	\N	EFO	1	EFO	CD103-positive dendritic cell	liver CD103-positive dendritic cell
CL:0002465	CL:0002454	\N	"" []	CL:0002506	"" []	556647	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	liver CD103-positive dendritic cell
CL:0002465	CL:0002454	\N	"" []	CL:0002506	"" []	556648	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	liver CD103-positive dendritic cell
CL:0000766	CL:0002461	\N	"" []	CL:0002506	"" []	556649	\N	\N	EFO	2	EFO	myeloid leukocyte	liver CD103-positive dendritic cell
CL:0000990	CL:0002461	\N	"" []	CL:0002506	"" []	556650	\N	\N	EFO	2	EFO	conventional dendritic cell	liver CD103-positive dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002506	"" []	1139356	\N	\N	EFO	3	EFO	conventional dendritic cell	liver CD103-positive dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002506	"" []	1139357	\N	\N	EFO	3	EFO	conventional dendritic cell	liver CD103-positive dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002506	"" []	1139358	\N	\N	EFO	3	EFO	leukocyte	liver CD103-positive dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002506	"" []	1139359	\N	\N	EFO	3	EFO	myeloid cell	liver CD103-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002506	"" []	2022405	\N	\N	EFO	4	EFO	dendritic cell	liver CD103-positive dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002506	"" []	2022404	\N	\N	EFO	4	EFO	dendritic cell	liver CD103-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002506	"" []	4132493	\N	\N	EFO	6	EFO	hematopoietic cell	liver CD103-positive dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002506	"" []	2022407	\N	\N	EFO	4	EFO	hematopoietic cell	liver CD103-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002506	"" []	2999213	\N	\N	EFO	5	EFO	leukocyte	liver CD103-positive dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002506	"" []	3176881	\N	\N	EFO	5	EFO	leukocyte	liver CD103-positive dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002506	"" []	5059290	\N	\N	EFO	7	EFO	somatic cell	liver CD103-positive dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002506	"" []	4387438	\N	\N	EFO	6	EFO	hematopoietic cell	liver CD103-positive dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002506	"" []	5408452	\N	\N	EFO	7	EFO	cell type	liver CD103-positive dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002506	"" []	6147370	\N	\N	EFO	8	EFO	material entity	liver CD103-positive dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002506	"" []	6631839	\N	\N	EFO	9	EFO	experimental factor	liver CD103-positive dendritic cell
CL:0002507	\N	\N	"" []	CL:0002507	"" []	63498	\N	\N	EFO	0	EFO	langerin-positive lymph node dendritic cell	langerin-positive lymph node dendritic cell
CL:0000990	CL:0002507	\N	"" []	CL:0002507	"" []	203622	\N	\N	EFO	1	EFO	conventional dendritic cell	langerin-positive lymph node dendritic cell
CL:0000990	CL:0002507	\N	"" []	CL:0002507	"" []	203623	\N	\N	EFO	1	EFO	conventional dendritic cell	langerin-positive lymph node dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002507	"" []	556651	\N	\N	EFO	2	EFO	dendritic cell	langerin-positive lymph node dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002507	"" []	556652	\N	\N	EFO	2	EFO	dendritic cell	langerin-positive lymph node dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002507	"" []	1139361	\N	\N	EFO	3	EFO	leukocyte	langerin-positive lymph node dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002507	"" []	1139362	\N	\N	EFO	3	EFO	leukocyte	langerin-positive lymph node dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002507	"" []	2022409	\N	\N	EFO	4	EFO	hematopoietic cell	langerin-positive lymph node dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002507	"" []	2022410	\N	\N	EFO	4	EFO	hematopoietic cell	langerin-positive lymph node dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002507	"" []	3176884	\N	\N	EFO	5	EFO	cell type	langerin-positive lymph node dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002507	"" []	3176885	\N	\N	EFO	5	EFO	somatic cell	langerin-positive lymph node dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002507	"" []	4387439	\N	\N	EFO	6	EFO	material entity	langerin-positive lymph node dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002507	"" []	5408453	\N	\N	EFO	7	EFO	experimental factor	langerin-positive lymph node dendritic cell
CL:0002508	\N	\N	"" []	CL:0002508	"" []	63499	\N	\N	EFO	0	EFO	langerin-negative, CD103-negative lymph node dendritic cell	langerin-negative, CD103-negative lymph node dendritic cell
CL:0000990	CL:0002508	\N	"" []	CL:0002508	"" []	203624	\N	\N	EFO	1	EFO	conventional dendritic cell	langerin-negative, CD103-negative lymph node dendritic cell
CL:0000990	CL:0002508	\N	"" []	CL:0002508	"" []	203625	\N	\N	EFO	1	EFO	conventional dendritic cell	langerin-negative, CD103-negative lymph node dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002508	"" []	556653	\N	\N	EFO	2	EFO	dendritic cell	langerin-negative, CD103-negative lymph node dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002508	"" []	556654	\N	\N	EFO	2	EFO	dendritic cell	langerin-negative, CD103-negative lymph node dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002508	"" []	1139363	\N	\N	EFO	3	EFO	leukocyte	langerin-negative, CD103-negative lymph node dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002508	"" []	1139364	\N	\N	EFO	3	EFO	leukocyte	langerin-negative, CD103-negative lymph node dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002508	"" []	2022411	\N	\N	EFO	4	EFO	hematopoietic cell	langerin-negative, CD103-negative lymph node dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002508	"" []	2022412	\N	\N	EFO	4	EFO	hematopoietic cell	langerin-negative, CD103-negative lymph node dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002508	"" []	3176886	\N	\N	EFO	5	EFO	cell type	langerin-negative, CD103-negative lymph node dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002508	"" []	3176887	\N	\N	EFO	5	EFO	somatic cell	langerin-negative, CD103-negative lymph node dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002508	"" []	4387440	\N	\N	EFO	6	EFO	material entity	langerin-negative, CD103-negative lymph node dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002508	"" []	5408454	\N	\N	EFO	7	EFO	experimental factor	langerin-negative, CD103-negative lymph node dendritic cell
CL:0002509	\N	\N	"" []	CL:0002509	"" []	63500	\N	\N	EFO	0	EFO	CD103-positive, langerin-positive lymph node dendritic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0002454	CL:0002509	\N	"" []	CL:0002509	"" []	203626	\N	\N	EFO	1	EFO	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0002461	CL:0002509	\N	"" []	CL:0002509	"" []	203627	\N	\N	EFO	1	EFO	CD103-positive dendritic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0002507	CL:0002509	\N	"" []	CL:0002509	"" []	203628	\N	\N	EFO	1	EFO	langerin-positive lymph node dendritic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0002507	CL:0002509	\N	"" []	CL:0002509	"" []	203629	\N	\N	EFO	1	EFO	langerin-positive lymph node dendritic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0002465	CL:0002454	\N	"" []	CL:0002509	"" []	556655	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000766	CL:0002461	\N	"" []	CL:0002509	"" []	556656	\N	\N	EFO	2	EFO	myeloid leukocyte	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000990	CL:0002461	\N	"" []	CL:0002509	"" []	556657	\N	\N	EFO	2	EFO	conventional dendritic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000990	CL:0002507	\N	"" []	CL:0002509	"" []	556658	\N	\N	EFO	2	EFO	conventional dendritic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000990	CL:0002507	\N	"" []	CL:0002509	"" []	556659	\N	\N	EFO	2	EFO	conventional dendritic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002509	"" []	1139365	\N	\N	EFO	3	EFO	conventional dendritic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002509	"" []	1139366	\N	\N	EFO	3	EFO	leukocyte	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002509	"" []	1139367	\N	\N	EFO	3	EFO	myeloid cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002509	"" []	2022413	\N	\N	EFO	4	EFO	dendritic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002509	"" []	1139369	\N	\N	EFO	3	EFO	dendritic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002509	"" []	4132495	\N	\N	EFO	6	EFO	hematopoietic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002509	"" []	2022415	\N	\N	EFO	4	EFO	hematopoietic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002509	"" []	2999214	\N	\N	EFO	5	EFO	leukocyte	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002509	"" []	2022417	\N	\N	EFO	4	EFO	leukocyte	CD103-positive, langerin-positive lymph node dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002509	"" []	5059291	\N	\N	EFO	7	EFO	somatic cell	CD103-positive, langerin-positive lymph node dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002509	"" []	3176890	\N	\N	EFO	5	EFO	hematopoietic cell	CD103-positive, langerin-positive lymph node dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002509	"" []	4387441	\N	\N	EFO	6	EFO	cell type	CD103-positive, langerin-positive lymph node dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002509	"" []	5408455	\N	\N	EFO	7	EFO	material entity	CD103-positive, langerin-positive lymph node dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002509	"" []	6147371	\N	\N	EFO	8	EFO	experimental factor	CD103-positive, langerin-positive lymph node dendritic cell
CL:0002510	\N	\N	"" []	CL:0002510	"" []	63501	\N	\N	EFO	0	EFO	CD103-negative, langerin-positive lymph node dendritic cell	CD103-negative, langerin-positive lymph node dendritic cell
CL:0002454	CL:0002510	\N	"" []	CL:0002510	"" []	203630	\N	\N	EFO	1	EFO	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell	CD103-negative, langerin-positive lymph node dendritic cell
CL:0002507	CL:0002510	\N	"" []	CL:0002510	"" []	203631	\N	\N	EFO	1	EFO	langerin-positive lymph node dendritic cell	CD103-negative, langerin-positive lymph node dendritic cell
CL:0002507	CL:0002510	\N	"" []	CL:0002510	"" []	203632	\N	\N	EFO	1	EFO	langerin-positive lymph node dendritic cell	CD103-negative, langerin-positive lymph node dendritic cell
CL:0002465	CL:0002454	\N	"" []	CL:0002510	"" []	556660	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	CD103-negative, langerin-positive lymph node dendritic cell
CL:0000990	CL:0002507	\N	"" []	CL:0002510	"" []	556661	\N	\N	EFO	2	EFO	conventional dendritic cell	CD103-negative, langerin-positive lymph node dendritic cell
CL:0000990	CL:0002507	\N	"" []	CL:0002510	"" []	556662	\N	\N	EFO	2	EFO	conventional dendritic cell	CD103-negative, langerin-positive lymph node dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002510	"" []	1139370	\N	\N	EFO	3	EFO	conventional dendritic cell	CD103-negative, langerin-positive lymph node dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002510	"" []	1139371	\N	\N	EFO	3	EFO	dendritic cell	CD103-negative, langerin-positive lymph node dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002510	"" []	2022418	\N	\N	EFO	4	EFO	dendritic cell	CD103-negative, langerin-positive lymph node dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002510	"" []	2022419	\N	\N	EFO	4	EFO	leukocyte	CD103-negative, langerin-positive lymph node dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002510	"" []	2999215	\N	\N	EFO	5	EFO	leukocyte	CD103-negative, langerin-positive lymph node dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002510	"" []	3176891	\N	\N	EFO	5	EFO	hematopoietic cell	CD103-negative, langerin-positive lymph node dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002510	"" []	4132496	\N	\N	EFO	6	EFO	hematopoietic cell	CD103-negative, langerin-positive lymph node dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002510	"" []	4387442	\N	\N	EFO	6	EFO	cell type	CD103-negative, langerin-positive lymph node dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002510	"" []	5180850	\N	\N	EFO	7	EFO	somatic cell	CD103-negative, langerin-positive lymph node dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002510	"" []	5408456	\N	\N	EFO	7	EFO	material entity	CD103-negative, langerin-positive lymph node dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002510	"" []	6147372	\N	\N	EFO	8	EFO	experimental factor	CD103-negative, langerin-positive lymph node dendritic cell
CL:0002511	\N	\N	"" []	CL:0002511	"" []	63502	\N	\N	EFO	0	EFO	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0002454	CL:0002511	\N	"" []	CL:0002511	"" []	203633	\N	\N	EFO	1	EFO	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0002508	CL:0002511	\N	"" []	CL:0002511	"" []	203634	\N	\N	EFO	1	EFO	langerin-negative, CD103-negative lymph node dendritic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0002508	CL:0002511	\N	"" []	CL:0002511	"" []	203635	\N	\N	EFO	1	EFO	langerin-negative, CD103-negative lymph node dendritic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0002465	CL:0002454	\N	"" []	CL:0002511	"" []	556663	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000990	CL:0002508	\N	"" []	CL:0002511	"" []	556664	\N	\N	EFO	2	EFO	conventional dendritic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000990	CL:0002508	\N	"" []	CL:0002511	"" []	556665	\N	\N	EFO	2	EFO	conventional dendritic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002511	"" []	1139373	\N	\N	EFO	3	EFO	conventional dendritic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002511	"" []	1139374	\N	\N	EFO	3	EFO	dendritic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002511	"" []	2022421	\N	\N	EFO	4	EFO	dendritic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002511	"" []	2022422	\N	\N	EFO	4	EFO	leukocyte	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002511	"" []	2999216	\N	\N	EFO	5	EFO	leukocyte	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002511	"" []	3176893	\N	\N	EFO	5	EFO	hematopoietic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002511	"" []	4132497	\N	\N	EFO	6	EFO	hematopoietic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002511	"" []	4387444	\N	\N	EFO	6	EFO	cell type	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002511	"" []	5180851	\N	\N	EFO	7	EFO	somatic cell	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002511	"" []	5408457	\N	\N	EFO	7	EFO	material entity	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002511	"" []	6147373	\N	\N	EFO	8	EFO	experimental factor	CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
CL:0002512	\N	\N	"" []	CL:0002512	"" []	63503	\N	\N	EFO	0	EFO	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0002454	CL:0002512	\N	"" []	CL:0002512	"" []	203636	\N	\N	EFO	1	EFO	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0002508	CL:0002512	\N	"" []	CL:0002512	"" []	203637	\N	\N	EFO	1	EFO	langerin-negative, CD103-negative lymph node dendritic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0002508	CL:0002512	\N	"" []	CL:0002512	"" []	203638	\N	\N	EFO	1	EFO	langerin-negative, CD103-negative lymph node dendritic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0002465	CL:0002454	\N	"" []	CL:0002512	"" []	556666	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000990	CL:0002508	\N	"" []	CL:0002512	"" []	556667	\N	\N	EFO	2	EFO	conventional dendritic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000990	CL:0002508	\N	"" []	CL:0002512	"" []	556668	\N	\N	EFO	2	EFO	conventional dendritic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002512	"" []	1139376	\N	\N	EFO	3	EFO	conventional dendritic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002512	"" []	1139377	\N	\N	EFO	3	EFO	dendritic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002512	"" []	2022424	\N	\N	EFO	4	EFO	dendritic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002512	"" []	2022425	\N	\N	EFO	4	EFO	leukocyte	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002512	"" []	2999217	\N	\N	EFO	5	EFO	leukocyte	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002512	"" []	3176895	\N	\N	EFO	5	EFO	hematopoietic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002512	"" []	4132498	\N	\N	EFO	6	EFO	hematopoietic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002512	"" []	4387446	\N	\N	EFO	6	EFO	cell type	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002512	"" []	5180852	\N	\N	EFO	7	EFO	somatic cell	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002512	"" []	5408458	\N	\N	EFO	7	EFO	material entity	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002512	"" []	6147374	\N	\N	EFO	8	EFO	experimental factor	CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
CL:0002513	\N	\N	"" []	CL:0002513	"" []	63504	\N	\N	EFO	0	EFO	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000802	CL:0002513	\N	"" []	CL:0002513	"" []	203639	\N	\N	EFO	1	EFO	CD8-alpha alpha positive, gamma-delta intraepithelial T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000802	CL:0002513	\N	"" []	CL:0002513	"" []	203640	\N	\N	EFO	1	EFO	CD8-alpha alpha positive, gamma-delta intraepithelial T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000801	CL:0000802	\N	"" []	CL:0002513	"" []	556669	\N	\N	EFO	2	EFO	gamma-delta intraepithelial T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000801	CL:0000802	\N	"" []	CL:0002513	"" []	556670	\N	\N	EFO	2	EFO	gamma-delta intraepithelial T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000800	CL:0000801	\N	"" []	CL:0002513	"" []	1139379	\N	\N	EFO	3	EFO	mature gamma-delta T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000800	CL:0000801	\N	"" []	CL:0002513	"" []	1139380	\N	\N	EFO	3	EFO	mature gamma-delta T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0002496	CL:0000801	\N	"" []	CL:0002513	"" []	1139381	\N	\N	EFO	3	EFO	intraepithelial lymphocyte	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000798	CL:0000800	\N	"" []	CL:0002513	"" []	2022427	\N	\N	EFO	4	EFO	gamma-delta T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000798	CL:0000800	\N	"" []	CL:0002513	"" []	2022428	\N	\N	EFO	4	EFO	gamma-delta T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0002419	CL:0000800	\N	"" []	CL:0002513	"" []	2022429	\N	\N	EFO	4	EFO	mature T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0002419	CL:0002496	\N	"" []	CL:0002513	"" []	2022430	\N	\N	EFO	4	EFO	mature T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002513	"" []	3176897	\N	\N	EFO	5	EFO	T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002513	"" []	3176898	\N	\N	EFO	5	EFO	T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002513	"" []	3176899	\N	\N	EFO	5	EFO	T cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002513	"" []	4387448	\N	\N	EFO	6	EFO	lymphocyte	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002513	"" []	4387449	\N	\N	EFO	6	EFO	lymphocyte	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002513	"" []	5408459	\N	\N	EFO	7	EFO	leukocyte	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0002087	CL:0000542	\N	"" []	CL:0002513	"" []	5408460	\N	\N	EFO	7	EFO	nongranular leukocyte	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002513	"" []	6147375	\N	\N	EFO	8	EFO	hematopoietic cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002513	"" []	6147376	\N	\N	EFO	8	EFO	leukocyte	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002513	"" []	6631840	\N	\N	EFO	9	EFO	cell type	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002513	"" []	6631841	\N	\N	EFO	9	EFO	hematopoietic cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002513	"" []	6925314	\N	\N	EFO	10	EFO	material entity	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002513	"" []	6925315	\N	\N	EFO	10	EFO	somatic cell	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002513	"" []	7098992	\N	\N	EFO	11	EFO	experimental factor	Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0002514	\N	\N	"" []	CL:0002514	"" []	63505	\N	\N	EFO	0	EFO	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000802	CL:0002514	\N	"" []	CL:0002514	"" []	203641	\N	\N	EFO	1	EFO	CD8-alpha alpha positive, gamma-delta intraepithelial T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000802	CL:0002514	\N	"" []	CL:0002514	"" []	203642	\N	\N	EFO	1	EFO	CD8-alpha alpha positive, gamma-delta intraepithelial T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000801	CL:0000802	\N	"" []	CL:0002514	"" []	556671	\N	\N	EFO	2	EFO	gamma-delta intraepithelial T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000801	CL:0000802	\N	"" []	CL:0002514	"" []	556672	\N	\N	EFO	2	EFO	gamma-delta intraepithelial T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000800	CL:0000801	\N	"" []	CL:0002514	"" []	1139382	\N	\N	EFO	3	EFO	mature gamma-delta T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000800	CL:0000801	\N	"" []	CL:0002514	"" []	1139383	\N	\N	EFO	3	EFO	mature gamma-delta T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0002496	CL:0000801	\N	"" []	CL:0002514	"" []	1139384	\N	\N	EFO	3	EFO	intraepithelial lymphocyte	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000798	CL:0000800	\N	"" []	CL:0002514	"" []	2022431	\N	\N	EFO	4	EFO	gamma-delta T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000798	CL:0000800	\N	"" []	CL:0002514	"" []	2022432	\N	\N	EFO	4	EFO	gamma-delta T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0002419	CL:0000800	\N	"" []	CL:0002514	"" []	2022433	\N	\N	EFO	4	EFO	mature T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0002419	CL:0002496	\N	"" []	CL:0002514	"" []	2022434	\N	\N	EFO	4	EFO	mature T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002514	"" []	3176900	\N	\N	EFO	5	EFO	T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000084	CL:0000798	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002514	"" []	3176901	\N	\N	EFO	5	EFO	T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	CL:0002514	"" []	3176902	\N	\N	EFO	5	EFO	T cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002514	"" []	4387450	\N	\N	EFO	6	EFO	lymphocyte	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	CL:0002514	"" []	4387451	\N	\N	EFO	6	EFO	lymphocyte	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002514	"" []	5408461	\N	\N	EFO	7	EFO	leukocyte	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0002087	CL:0000542	\N	"" []	CL:0002514	"" []	5408462	\N	\N	EFO	7	EFO	nongranular leukocyte	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002514	"" []	6147377	\N	\N	EFO	8	EFO	hematopoietic cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000738	CL:0002087	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002514	"" []	6147378	\N	\N	EFO	8	EFO	leukocyte	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002514	"" []	6631842	\N	\N	EFO	9	EFO	cell type	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002514	"" []	6631843	\N	\N	EFO	9	EFO	hematopoietic cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002514	"" []	6925316	\N	\N	EFO	10	EFO	material entity	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002514	"" []	6925317	\N	\N	EFO	10	EFO	somatic cell	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002514	"" []	7098993	\N	\N	EFO	11	EFO	experimental factor	Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
CL:0002526	\N	\N	"" []	CL:0002526	"" []	63506	\N	\N	EFO	0	EFO	CD14-positive dermal dendritic cell	CD14-positive dermal dendritic cell
CL:0001006	CL:0002526	\N	"" []	CL:0002526	"" []	203643	\N	\N	EFO	1	EFO	dermal dendritic cell	CD14-positive dermal dendritic cell
CL:0001006	CL:0002526	\N	"" []	CL:0002526	"" []	203644	\N	\N	EFO	1	EFO	dermal dendritic cell	CD14-positive dermal dendritic cell
CL:0000990	CL:0001006	\N	"" []	CL:0002526	"" []	556673	\N	\N	EFO	2	EFO	conventional dendritic cell	CD14-positive dermal dendritic cell
CL:0002465	CL:0001006	\N	"" []	CL:0002526	"" []	556674	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	CD14-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002526	"" []	1139385	\N	\N	EFO	3	EFO	dendritic cell	CD14-positive dermal dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002526	"" []	1139386	\N	\N	EFO	3	EFO	conventional dendritic cell	CD14-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002526	"" []	2022435	\N	\N	EFO	4	EFO	leukocyte	CD14-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002526	"" []	2022436	\N	\N	EFO	4	EFO	dendritic cell	CD14-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002526	"" []	3176903	\N	\N	EFO	5	EFO	hematopoietic cell	CD14-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002526	"" []	3176904	\N	\N	EFO	5	EFO	leukocyte	CD14-positive dermal dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002526	"" []	4387452	\N	\N	EFO	6	EFO	cell type	CD14-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002526	"" []	4387453	\N	\N	EFO	6	EFO	hematopoietic cell	CD14-positive dermal dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002526	"" []	5408463	\N	\N	EFO	7	EFO	material entity	CD14-positive dermal dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002526	"" []	5408464	\N	\N	EFO	7	EFO	somatic cell	CD14-positive dermal dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002526	"" []	6147379	\N	\N	EFO	8	EFO	experimental factor	CD14-positive dermal dendritic cell
CL:0002527	\N	\N	"" []	CL:0002527	"" []	63507	\N	\N	EFO	0	EFO	immature CD14-positive dermal dendritic cell	immature CD14-positive dermal dendritic cell
CL:0001009	CL:0002527	\N	"" []	CL:0002527	"" []	203645	\N	\N	EFO	1	EFO	immature dermal dendritic cell	immature CD14-positive dermal dendritic cell
CL:0002526	CL:0002527	\N	"" []	CL:0002527	"" []	203646	\N	\N	EFO	1	EFO	CD14-positive dermal dendritic cell	immature CD14-positive dermal dendritic cell
CL:0002526	CL:0002527	\N	"" []	CL:0002527	"" []	203647	\N	\N	EFO	1	EFO	CD14-positive dermal dendritic cell	immature CD14-positive dermal dendritic cell
CL:0000840	CL:0001009	\N	"" []	CL:0002527	"" []	556675	\N	\N	EFO	2	EFO	immature conventional dendritic cell	immature CD14-positive dermal dendritic cell
CL:0001006	CL:0001009	\N	"" []	CL:0002527	"" []	556676	\N	\N	EFO	2	EFO	dermal dendritic cell	immature CD14-positive dermal dendritic cell
CL:0001006	CL:0002526	\N	"" []	CL:0002527	"" []	556677	\N	\N	EFO	2	EFO	dermal dendritic cell	immature CD14-positive dermal dendritic cell
CL:0001006	CL:0002526	\N	"" []	CL:0002527	"" []	556678	\N	\N	EFO	2	EFO	dermal dendritic cell	immature CD14-positive dermal dendritic cell
CL:0000766	CL:0000840	\N	"" []	CL:0002527	"" []	1139387	\N	\N	EFO	3	EFO	myeloid leukocyte	immature CD14-positive dermal dendritic cell
CL:0000990	CL:0000840	\N	"" []	CL:0002527	"" []	1139388	\N	\N	EFO	3	EFO	conventional dendritic cell	immature CD14-positive dermal dendritic cell
CL:0002465	CL:0001006	\N	"" []	CL:0002527	"" []	1139389	\N	\N	EFO	3	EFO	CD11b-positive dendritic cell	immature CD14-positive dermal dendritic cell
CL:0000990	CL:0001006	\N	"" []	CL:0002527	"" []	1139390	\N	\N	EFO	3	EFO	conventional dendritic cell	immature CD14-positive dermal dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002527	"" []	2022437	\N	\N	EFO	4	EFO	leukocyte	immature CD14-positive dermal dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002527	"" []	2022438	\N	\N	EFO	4	EFO	myeloid cell	immature CD14-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002527	"" []	3176908	\N	\N	EFO	5	EFO	dendritic cell	immature CD14-positive dermal dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002527	"" []	2022440	\N	\N	EFO	4	EFO	conventional dendritic cell	immature CD14-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002527	"" []	2022441	\N	\N	EFO	4	EFO	dendritic cell	immature CD14-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002527	"" []	5180854	\N	\N	EFO	7	EFO	hematopoietic cell	immature CD14-positive dermal dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002527	"" []	3176906	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD14-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002527	"" []	4132499	\N	\N	EFO	6	EFO	leukocyte	immature CD14-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002527	"" []	3176909	\N	\N	EFO	5	EFO	leukocyte	immature CD14-positive dermal dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002527	"" []	5876504	\N	\N	EFO	8	EFO	somatic cell	immature CD14-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002527	"" []	4387456	\N	\N	EFO	6	EFO	hematopoietic cell	immature CD14-positive dermal dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002527	"" []	5408465	\N	\N	EFO	7	EFO	cell type	immature CD14-positive dermal dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002527	"" []	6147380	\N	\N	EFO	8	EFO	material entity	immature CD14-positive dermal dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002527	"" []	6631844	\N	\N	EFO	9	EFO	experimental factor	immature CD14-positive dermal dendritic cell
CL:0002528	\N	\N	"" []	CL:0002528	"" []	63508	\N	\N	EFO	0	EFO	mature CD14-positive dermal dendritic cell	mature CD14-positive dermal dendritic cell
CL:0001010	CL:0002528	\N	"" []	CL:0002528	"" []	203648	\N	\N	EFO	1	EFO	mature dermal dendritic cell	mature CD14-positive dermal dendritic cell
CL:0002526	CL:0002528	\N	"" []	CL:0002528	"" []	203649	\N	\N	EFO	1	EFO	CD14-positive dermal dendritic cell	mature CD14-positive dermal dendritic cell
CL:0002526	CL:0002528	\N	"" []	CL:0002528	"" []	203650	\N	\N	EFO	1	EFO	CD14-positive dermal dendritic cell	mature CD14-positive dermal dendritic cell
CL:0000841	CL:0001010	\N	"" []	CL:0002528	"" []	556679	\N	\N	EFO	2	EFO	mature conventional dendritic cell	mature CD14-positive dermal dendritic cell
CL:0001006	CL:0001010	\N	"" []	CL:0002528	"" []	556680	\N	\N	EFO	2	EFO	dermal dendritic cell	mature CD14-positive dermal dendritic cell
CL:0001006	CL:0002526	\N	"" []	CL:0002528	"" []	556681	\N	\N	EFO	2	EFO	dermal dendritic cell	mature CD14-positive dermal dendritic cell
CL:0001006	CL:0002526	\N	"" []	CL:0002528	"" []	556682	\N	\N	EFO	2	EFO	dermal dendritic cell	mature CD14-positive dermal dendritic cell
CL:0000766	CL:0000841	\N	"" []	CL:0002528	"" []	1139391	\N	\N	EFO	3	EFO	myeloid leukocyte	mature CD14-positive dermal dendritic cell
CL:0000990	CL:0000841	\N	"" []	CL:0002528	"" []	1139392	\N	\N	EFO	3	EFO	conventional dendritic cell	mature CD14-positive dermal dendritic cell
CL:0002465	CL:0001006	\N	"" []	CL:0002528	"" []	1139393	\N	\N	EFO	3	EFO	CD11b-positive dendritic cell	mature CD14-positive dermal dendritic cell
CL:0000990	CL:0001006	\N	"" []	CL:0002528	"" []	1139394	\N	\N	EFO	3	EFO	conventional dendritic cell	mature CD14-positive dermal dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002528	"" []	2022442	\N	\N	EFO	4	EFO	leukocyte	mature CD14-positive dermal dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002528	"" []	2022443	\N	\N	EFO	4	EFO	myeloid cell	mature CD14-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002528	"" []	3176913	\N	\N	EFO	5	EFO	dendritic cell	mature CD14-positive dermal dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002528	"" []	2022445	\N	\N	EFO	4	EFO	conventional dendritic cell	mature CD14-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002528	"" []	2022446	\N	\N	EFO	4	EFO	dendritic cell	mature CD14-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002528	"" []	5180856	\N	\N	EFO	7	EFO	hematopoietic cell	mature CD14-positive dermal dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002528	"" []	3176911	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD14-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002528	"" []	4132500	\N	\N	EFO	6	EFO	leukocyte	mature CD14-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002528	"" []	3176914	\N	\N	EFO	5	EFO	leukocyte	mature CD14-positive dermal dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002528	"" []	5876505	\N	\N	EFO	8	EFO	somatic cell	mature CD14-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002528	"" []	4387459	\N	\N	EFO	6	EFO	hematopoietic cell	mature CD14-positive dermal dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002528	"" []	5408466	\N	\N	EFO	7	EFO	cell type	mature CD14-positive dermal dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002528	"" []	6147381	\N	\N	EFO	8	EFO	material entity	mature CD14-positive dermal dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002528	"" []	6631845	\N	\N	EFO	9	EFO	experimental factor	mature CD14-positive dermal dendritic cell
CL:0002529	\N	\N	"" []	CL:0002529	"" []	63509	\N	\N	EFO	0	EFO	CD1a-positive dermal dendritic cell	CD1a-positive dermal dendritic cell
CL:0001006	CL:0002529	\N	"" []	CL:0002529	"" []	203651	\N	\N	EFO	1	EFO	dermal dendritic cell	CD1a-positive dermal dendritic cell
CL:0001006	CL:0002529	\N	"" []	CL:0002529	"" []	203652	\N	\N	EFO	1	EFO	dermal dendritic cell	CD1a-positive dermal dendritic cell
CL:0000990	CL:0001006	\N	"" []	CL:0002529	"" []	556683	\N	\N	EFO	2	EFO	conventional dendritic cell	CD1a-positive dermal dendritic cell
CL:0002465	CL:0001006	\N	"" []	CL:0002529	"" []	556684	\N	\N	EFO	2	EFO	CD11b-positive dendritic cell	CD1a-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002529	"" []	1139395	\N	\N	EFO	3	EFO	dendritic cell	CD1a-positive dermal dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002529	"" []	1139396	\N	\N	EFO	3	EFO	conventional dendritic cell	CD1a-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002529	"" []	2022447	\N	\N	EFO	4	EFO	leukocyte	CD1a-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002529	"" []	2022448	\N	\N	EFO	4	EFO	dendritic cell	CD1a-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002529	"" []	3176915	\N	\N	EFO	5	EFO	hematopoietic cell	CD1a-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002529	"" []	3176916	\N	\N	EFO	5	EFO	leukocyte	CD1a-positive dermal dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002529	"" []	4387460	\N	\N	EFO	6	EFO	cell type	CD1a-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002529	"" []	4387461	\N	\N	EFO	6	EFO	hematopoietic cell	CD1a-positive dermal dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002529	"" []	5408467	\N	\N	EFO	7	EFO	material entity	CD1a-positive dermal dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002529	"" []	5408468	\N	\N	EFO	7	EFO	somatic cell	CD1a-positive dermal dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002529	"" []	6147382	\N	\N	EFO	8	EFO	experimental factor	CD1a-positive dermal dendritic cell
CL:0002530	\N	\N	"" []	CL:0002530	"" []	63510	\N	\N	EFO	0	EFO	immature CD1a-positive dermal dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0001009	CL:0002530	\N	"" []	CL:0002530	"" []	203653	\N	\N	EFO	1	EFO	immature dermal dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0002529	CL:0002530	\N	"" []	CL:0002530	"" []	203654	\N	\N	EFO	1	EFO	CD1a-positive dermal dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0002529	CL:0002530	\N	"" []	CL:0002530	"" []	203655	\N	\N	EFO	1	EFO	CD1a-positive dermal dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0000840	CL:0001009	\N	"" []	CL:0002530	"" []	556685	\N	\N	EFO	2	EFO	immature conventional dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0001006	CL:0001009	\N	"" []	CL:0002530	"" []	556686	\N	\N	EFO	2	EFO	dermal dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0001006	CL:0002529	\N	"" []	CL:0002530	"" []	556687	\N	\N	EFO	2	EFO	dermal dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0001006	CL:0002529	\N	"" []	CL:0002530	"" []	556688	\N	\N	EFO	2	EFO	dermal dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0000766	CL:0000840	\N	"" []	CL:0002530	"" []	1139397	\N	\N	EFO	3	EFO	myeloid leukocyte	immature CD1a-positive dermal dendritic cell
CL:0000990	CL:0000840	\N	"" []	CL:0002530	"" []	1139398	\N	\N	EFO	3	EFO	conventional dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0002465	CL:0001006	\N	"" []	CL:0002530	"" []	1139399	\N	\N	EFO	3	EFO	CD11b-positive dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0000990	CL:0001006	\N	"" []	CL:0002530	"" []	1139400	\N	\N	EFO	3	EFO	conventional dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002530	"" []	2022449	\N	\N	EFO	4	EFO	leukocyte	immature CD1a-positive dermal dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002530	"" []	2022450	\N	\N	EFO	4	EFO	myeloid cell	immature CD1a-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002530	"" []	3176920	\N	\N	EFO	5	EFO	dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002530	"" []	2022452	\N	\N	EFO	4	EFO	conventional dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002530	"" []	2022453	\N	\N	EFO	4	EFO	dendritic cell	immature CD1a-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002530	"" []	5180858	\N	\N	EFO	7	EFO	hematopoietic cell	immature CD1a-positive dermal dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002530	"" []	3176918	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD1a-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002530	"" []	4132501	\N	\N	EFO	6	EFO	leukocyte	immature CD1a-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002530	"" []	3176921	\N	\N	EFO	5	EFO	leukocyte	immature CD1a-positive dermal dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002530	"" []	5876506	\N	\N	EFO	8	EFO	somatic cell	immature CD1a-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002530	"" []	4387464	\N	\N	EFO	6	EFO	hematopoietic cell	immature CD1a-positive dermal dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002530	"" []	5408469	\N	\N	EFO	7	EFO	cell type	immature CD1a-positive dermal dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002530	"" []	6147383	\N	\N	EFO	8	EFO	material entity	immature CD1a-positive dermal dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002530	"" []	6631846	\N	\N	EFO	9	EFO	experimental factor	immature CD1a-positive dermal dendritic cell
CL:0002531	\N	\N	"" []	CL:0002531	"" []	63511	\N	\N	EFO	0	EFO	mature CD1a-positive dermal dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0001010	CL:0002531	\N	"" []	CL:0002531	"" []	203656	\N	\N	EFO	1	EFO	mature dermal dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0002529	CL:0002531	\N	"" []	CL:0002531	"" []	203657	\N	\N	EFO	1	EFO	CD1a-positive dermal dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0002529	CL:0002531	\N	"" []	CL:0002531	"" []	203658	\N	\N	EFO	1	EFO	CD1a-positive dermal dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0000841	CL:0001010	\N	"" []	CL:0002531	"" []	556689	\N	\N	EFO	2	EFO	mature conventional dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0001006	CL:0001010	\N	"" []	CL:0002531	"" []	556690	\N	\N	EFO	2	EFO	dermal dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0001006	CL:0002529	\N	"" []	CL:0002531	"" []	556691	\N	\N	EFO	2	EFO	dermal dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0001006	CL:0002529	\N	"" []	CL:0002531	"" []	556692	\N	\N	EFO	2	EFO	dermal dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0000766	CL:0000841	\N	"" []	CL:0002531	"" []	1139401	\N	\N	EFO	3	EFO	myeloid leukocyte	mature CD1a-positive dermal dendritic cell
CL:0000990	CL:0000841	\N	"" []	CL:0002531	"" []	1139402	\N	\N	EFO	3	EFO	conventional dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0002465	CL:0001006	\N	"" []	CL:0002531	"" []	1139403	\N	\N	EFO	3	EFO	CD11b-positive dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0000990	CL:0001006	\N	"" []	CL:0002531	"" []	1139404	\N	\N	EFO	3	EFO	conventional dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002531	"" []	2022454	\N	\N	EFO	4	EFO	leukocyte	mature CD1a-positive dermal dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002531	"" []	2022455	\N	\N	EFO	4	EFO	myeloid cell	mature CD1a-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002531	"" []	3176925	\N	\N	EFO	5	EFO	dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0000990	CL:0002465	\N	"" []	CL:0002531	"" []	2022457	\N	\N	EFO	4	EFO	conventional dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002531	"" []	2022458	\N	\N	EFO	4	EFO	dendritic cell	mature CD1a-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002531	"" []	5180860	\N	\N	EFO	7	EFO	hematopoietic cell	mature CD1a-positive dermal dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002531	"" []	3176923	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD1a-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002531	"" []	4132502	\N	\N	EFO	6	EFO	leukocyte	mature CD1a-positive dermal dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002531	"" []	3176926	\N	\N	EFO	5	EFO	leukocyte	mature CD1a-positive dermal dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002531	"" []	5876507	\N	\N	EFO	8	EFO	somatic cell	mature CD1a-positive dermal dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002531	"" []	4387467	\N	\N	EFO	6	EFO	hematopoietic cell	mature CD1a-positive dermal dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002531	"" []	5408470	\N	\N	EFO	7	EFO	cell type	mature CD1a-positive dermal dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002531	"" []	6147384	\N	\N	EFO	8	EFO	material entity	mature CD1a-positive dermal dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002531	"" []	6631847	\N	\N	EFO	9	EFO	experimental factor	mature CD1a-positive dermal dendritic cell
CL:0002532	\N	\N	"" []	CL:0002532	"" []	63512	\N	\N	EFO	0	EFO	CD16-positive myeloid dendritic cell	CD16-positive myeloid dendritic cell
CL:0000782	CL:0002532	\N	"" []	CL:0002532	"" []	203659	\N	\N	EFO	1	EFO	myeloid dendritic cell	CD16-positive myeloid dendritic cell
CL:0000782	CL:0002532	\N	"" []	CL:0002532	"" []	203660	\N	\N	EFO	1	EFO	myeloid dendritic cell	CD16-positive myeloid dendritic cell
CL:0000990	CL:0000782	\N	"" []	CL:0002532	"" []	556693	\N	\N	EFO	2	EFO	conventional dendritic cell	CD16-positive myeloid dendritic cell
CL:0000766	CL:0000782	\N	"" []	CL:0002532	"" []	556694	\N	\N	EFO	2	EFO	myeloid leukocyte	CD16-positive myeloid dendritic cell
CL:0000990	CL:0000782	\N	"" []	CL:0002532	"" []	556695	\N	\N	EFO	2	EFO	conventional dendritic cell	CD16-positive myeloid dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002532	"" []	1139405	\N	\N	EFO	3	EFO	dendritic cell	CD16-positive myeloid dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002532	"" []	1139406	\N	\N	EFO	3	EFO	leukocyte	CD16-positive myeloid dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002532	"" []	1139407	\N	\N	EFO	3	EFO	myeloid cell	CD16-positive myeloid dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002532	"" []	1139408	\N	\N	EFO	3	EFO	dendritic cell	CD16-positive myeloid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002532	"" []	2022459	\N	\N	EFO	4	EFO	leukocyte	CD16-positive myeloid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002532	"" []	3176929	\N	\N	EFO	5	EFO	hematopoietic cell	CD16-positive myeloid dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002532	"" []	2022461	\N	\N	EFO	4	EFO	hematopoietic cell	CD16-positive myeloid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002532	"" []	2022462	\N	\N	EFO	4	EFO	leukocyte	CD16-positive myeloid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002532	"" []	3176927	\N	\N	EFO	5	EFO	hematopoietic cell	CD16-positive myeloid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002532	"" []	4132503	\N	\N	EFO	6	EFO	somatic cell	CD16-positive myeloid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002532	"" []	4387468	\N	\N	EFO	6	EFO	cell type	CD16-positive myeloid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002532	"" []	5408471	\N	\N	EFO	7	EFO	material entity	CD16-positive myeloid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002532	"" []	6147385	\N	\N	EFO	8	EFO	experimental factor	CD16-positive myeloid dendritic cell
CL:0002533	\N	\N	"" []	CL:0002533	"" []	63513	\N	\N	EFO	0	EFO	immature CD16-positive myeloid dendritic cell	immature CD16-positive myeloid dendritic cell
CL:0000840	CL:0002533	\N	"" []	CL:0002533	"" []	203661	\N	\N	EFO	1	EFO	immature conventional dendritic cell	immature CD16-positive myeloid dendritic cell
CL:0002532	CL:0002533	\N	"" []	CL:0002533	"" []	203662	\N	\N	EFO	1	EFO	CD16-positive myeloid dendritic cell	immature CD16-positive myeloid dendritic cell
CL:0002532	CL:0002533	\N	"" []	CL:0002533	"" []	203663	\N	\N	EFO	1	EFO	CD16-positive myeloid dendritic cell	immature CD16-positive myeloid dendritic cell
CL:0000766	CL:0000840	\N	"" []	CL:0002533	"" []	556696	\N	\N	EFO	2	EFO	myeloid leukocyte	immature CD16-positive myeloid dendritic cell
CL:0000990	CL:0000840	\N	"" []	CL:0002533	"" []	556697	\N	\N	EFO	2	EFO	conventional dendritic cell	immature CD16-positive myeloid dendritic cell
CL:0000782	CL:0002532	\N	"" []	CL:0002533	"" []	556698	\N	\N	EFO	2	EFO	myeloid dendritic cell	immature CD16-positive myeloid dendritic cell
CL:0000782	CL:0002532	\N	"" []	CL:0002533	"" []	556699	\N	\N	EFO	2	EFO	myeloid dendritic cell	immature CD16-positive myeloid dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002533	"" []	2022467	\N	\N	EFO	4	EFO	leukocyte	immature CD16-positive myeloid dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002533	"" []	2022468	\N	\N	EFO	4	EFO	myeloid cell	immature CD16-positive myeloid dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002533	"" []	2022469	\N	\N	EFO	4	EFO	dendritic cell	immature CD16-positive myeloid dendritic cell
CL:0000990	CL:0000782	\N	"" []	CL:0002533	"" []	1139412	\N	\N	EFO	3	EFO	conventional dendritic cell	immature CD16-positive myeloid dendritic cell
CL:0000766	CL:0000782	\N	"" []	CL:0002533	"" []	1139413	\N	\N	EFO	3	EFO	myeloid leukocyte	immature CD16-positive myeloid dendritic cell
CL:0000990	CL:0000782	\N	"" []	CL:0002533	"" []	1139414	\N	\N	EFO	3	EFO	conventional dendritic cell	immature CD16-positive myeloid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002533	"" []	4132505	\N	\N	EFO	6	EFO	hematopoietic cell	immature CD16-positive myeloid dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002533	"" []	2999219	\N	\N	EFO	5	EFO	hematopoietic cell	immature CD16-positive myeloid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002533	"" []	2999220	\N	\N	EFO	5	EFO	leukocyte	immature CD16-positive myeloid dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002533	"" []	2022466	\N	\N	EFO	4	EFO	dendritic cell	immature CD16-positive myeloid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002533	"" []	5059292	\N	\N	EFO	7	EFO	somatic cell	immature CD16-positive myeloid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002533	"" []	3176931	\N	\N	EFO	5	EFO	leukocyte	immature CD16-positive myeloid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002533	"" []	4387469	\N	\N	EFO	6	EFO	hematopoietic cell	immature CD16-positive myeloid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002533	"" []	5408472	\N	\N	EFO	7	EFO	cell type	immature CD16-positive myeloid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002533	"" []	6147386	\N	\N	EFO	8	EFO	material entity	immature CD16-positive myeloid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002533	"" []	6631848	\N	\N	EFO	9	EFO	experimental factor	immature CD16-positive myeloid dendritic cell
CL:0002534	\N	\N	"" []	CL:0002534	"" []	63514	\N	\N	EFO	0	EFO	mature CD16-positive myeloid dendritic cell	mature CD16-positive myeloid dendritic cell
CL:0000841	CL:0002534	\N	"" []	CL:0002534	"" []	203664	\N	\N	EFO	1	EFO	mature conventional dendritic cell	mature CD16-positive myeloid dendritic cell
CL:0002532	CL:0002534	\N	"" []	CL:0002534	"" []	203665	\N	\N	EFO	1	EFO	CD16-positive myeloid dendritic cell	mature CD16-positive myeloid dendritic cell
CL:0002532	CL:0002534	\N	"" []	CL:0002534	"" []	203666	\N	\N	EFO	1	EFO	CD16-positive myeloid dendritic cell	mature CD16-positive myeloid dendritic cell
CL:0000766	CL:0000841	\N	"" []	CL:0002534	"" []	556700	\N	\N	EFO	2	EFO	myeloid leukocyte	mature CD16-positive myeloid dendritic cell
CL:0000990	CL:0000841	\N	"" []	CL:0002534	"" []	556701	\N	\N	EFO	2	EFO	conventional dendritic cell	mature CD16-positive myeloid dendritic cell
CL:0000782	CL:0002532	\N	"" []	CL:0002534	"" []	556702	\N	\N	EFO	2	EFO	myeloid dendritic cell	mature CD16-positive myeloid dendritic cell
CL:0000782	CL:0002532	\N	"" []	CL:0002534	"" []	556703	\N	\N	EFO	2	EFO	myeloid dendritic cell	mature CD16-positive myeloid dendritic cell
CL:0000738	CL:0000766	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002534	"" []	2022474	\N	\N	EFO	4	EFO	leukocyte	mature CD16-positive myeloid dendritic cell
CL:0000763	CL:0000766	\N	"Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis." []	CL:0002534	"" []	2022475	\N	\N	EFO	4	EFO	myeloid cell	mature CD16-positive myeloid dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002534	"" []	2022476	\N	\N	EFO	4	EFO	dendritic cell	mature CD16-positive myeloid dendritic cell
CL:0000990	CL:0000782	\N	"" []	CL:0002534	"" []	1139418	\N	\N	EFO	3	EFO	conventional dendritic cell	mature CD16-positive myeloid dendritic cell
CL:0000766	CL:0000782	\N	"" []	CL:0002534	"" []	1139419	\N	\N	EFO	3	EFO	myeloid leukocyte	mature CD16-positive myeloid dendritic cell
CL:0000990	CL:0000782	\N	"" []	CL:0002534	"" []	1139420	\N	\N	EFO	3	EFO	conventional dendritic cell	mature CD16-positive myeloid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002534	"" []	4132507	\N	\N	EFO	6	EFO	hematopoietic cell	mature CD16-positive myeloid dendritic cell
CL:0000988	CL:0000763	\N	"A cell of a hematopoietic lineage." []	CL:0002534	"" []	2999222	\N	\N	EFO	5	EFO	hematopoietic cell	mature CD16-positive myeloid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002534	"" []	2999223	\N	\N	EFO	5	EFO	leukocyte	mature CD16-positive myeloid dendritic cell
CL:0000451	CL:0000990	\N	"Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum." []	CL:0002534	"" []	2022473	\N	\N	EFO	4	EFO	dendritic cell	mature CD16-positive myeloid dendritic cell
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0002534	"" []	5059293	\N	\N	EFO	7	EFO	somatic cell	mature CD16-positive myeloid dendritic cell
CL:0000738	CL:0000451	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:0002534	"" []	3176933	\N	\N	EFO	5	EFO	leukocyte	mature CD16-positive myeloid dendritic cell
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:0002534	"" []	4387470	\N	\N	EFO	6	EFO	hematopoietic cell	mature CD16-positive myeloid dendritic cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002534	"" []	5408473	\N	\N	EFO	7	EFO	cell type	mature CD16-positive myeloid dendritic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002534	"" []	6147387	\N	\N	EFO	8	EFO	material entity	mature CD16-positive myeloid dendritic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002534	"" []	6631849	\N	\N	EFO	9	EFO	experimental factor	mature CD16-positive myeloid dendritic cell
CL:0002540	\N	\N	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	63515	\N	\N	EFO	0	EFO	mesenchymal stem cell of the bone marrow	mesenchymal stem cell of the bone marrow
CL:0000134	\N	\N	"A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. This cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs." [FB:ma, GOC:dsd, http://en.wikipedia.org/wiki/Mesenchymal_stem_cell, http://www.copewithcytokines.de/cope.cgi?key=mesenchymal%20stem%20cells, PMCID:PMC2613570, PMID:10102814j, PMID:16923606, PMID:17986482, PMID:19960544]	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	194254	\N	\N	EFO	0	EFO	mesenchymal stem cell	mesenchymal stem cell of the bone marrow
CL:0002092	CL:0002540	\N	"A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. [ GOC:tfm ISBN:0618947256 ] " []	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	203667	\N	\N	EFO	1	EFO	bone marrow cell	mesenchymal stem cell of the bone marrow
EFO:0000586	CL:0002540	\N	"" []	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	203668	\N	\N	EFO	1	EFO	mesenchymal stem cell	mesenchymal stem cell of the bone marrow
EFO:0003858	CL:0002540	\N	"" []	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	203669	\N	\N	EFO	1	EFO	skeleton structure	mesenchymal stem cell of the bone marrow
CL:0000034	EFO:0000586	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	556704	\N	\N	EFO	2	EFO	stem cell	mesenchymal stem cell of the bone marrow
EFO:0000787	EFO:0003858	\N	"" []	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	556705	\N	\N	EFO	2	EFO	animal component	mesenchymal stem cell of the bone marrow
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	1139421	\N	\N	EFO	3	EFO	cell type	mesenchymal stem cell of the bone marrow
EFO:0000786	EFO:0000787	\N	"" []	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	1139422	\N	\N	EFO	3	EFO	anatomy basic component	mesenchymal stem cell of the bone marrow
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	2022477	\N	\N	EFO	4	EFO	material entity	mesenchymal stem cell of the bone marrow
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	2022478	\N	\N	EFO	4	EFO	organism part	mesenchymal stem cell of the bone marrow
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	4387471	\N	\N	EFO	6	EFO	experimental factor	mesenchymal stem cell of the bone marrow
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002540	"A mesenchymal stem cell that is part of the bone marrow. [ GOC:tfm ] " []	3176935	\N	\N	EFO	5	EFO	material entity	mesenchymal stem cell of the bone marrow
CL:0002553	\N	\N	"A fibroblast that is part of lung" []	CL:0002553	"A fibroblast that is part of lung" []	63517	\N	\N	EFO	0	EFO	lung fibroblast	lung fibroblast
CL:0000057	CL:0002553	\N	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	CL:0002553	"A fibroblast that is part of lung" []	203670	\N	\N	EFO	1	EFO	fibroblast	lung fibroblast
CL:0000057	CL:0002553	\N	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	CL:0002553	"A fibroblast that is part of lung" []	203671	\N	\N	EFO	1	EFO	fibroblast	lung fibroblast
EFO:0000324	CL:0000057	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002553	"A fibroblast that is part of lung" []	556706	\N	\N	EFO	2	EFO	cell type	lung fibroblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002553	"A fibroblast that is part of lung" []	1139423	\N	\N	EFO	3	EFO	material entity	lung fibroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002553	"A fibroblast that is part of lung" []	2022479	\N	\N	EFO	4	EFO	experimental factor	lung fibroblast
CL:0002608	\N	\N	"A neuron of the hippocampus." []	CL:0002608	"A neuron of the hippocampus." []	63521	\N	\N	EFO	0	EFO	hippocampal neuron	hippocampal neuron
CL:0002609	\N	\N	"A CNS neuron of the cerebral cortex." [GOC:tfm]	CL:0002608	"A neuron of the hippocampus." []	194263	\N	\N	EFO	0	EFO	neuron of cerebral cortex	hippocampal neuron
CL:0000540	CL:0002608	\N	"The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." []	CL:0002608	"A neuron of the hippocampus." []	203672	\N	\N	EFO	1	EFO	neuron	hippocampal neuron
EFO:0002963	CL:0000540	\N	"" []	CL:0002608	"A neuron of the hippocampus." []	556707	\N	\N	EFO	2	EFO	nervous system cell	hippocampal neuron
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002608	"A neuron of the hippocampus." []	1139424	\N	\N	EFO	3	EFO	cell type	hippocampal neuron
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002608	"A neuron of the hippocampus." []	2022480	\N	\N	EFO	4	EFO	material entity	hippocampal neuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002608	"A neuron of the hippocampus." []	3176936	\N	\N	EFO	5	EFO	experimental factor	hippocampal neuron
CL:0002617	\N	\N	"A fat cell that is part of the breast." []	CL:0002617	"A fat cell that is part of the breast." []	63522	\N	\N	EFO	0	EFO	adipocyte of breast	adipocyte of breast
CL:0000136	CL:0002617	\N	"A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides." []	CL:0002617	"A fat cell that is part of the breast." []	203673	\N	\N	EFO	1	EFO	fat cell	adipocyte of breast
CL:0000136	CL:0002617	\N	"A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides." []	CL:0002617	"A fat cell that is part of the breast." []	203674	\N	\N	EFO	1	EFO	fat cell	adipocyte of breast
EFO:0000324	CL:0000136	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002617	"A fat cell that is part of the breast." []	556708	\N	\N	EFO	2	EFO	cell type	adipocyte of breast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002617	"A fat cell that is part of the breast." []	1139425	\N	\N	EFO	3	EFO	material entity	adipocyte of breast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002617	"A fat cell that is part of the breast." []	2022481	\N	\N	EFO	4	EFO	experimental factor	adipocyte of breast
CL:0002618	\N	\N	"An endothelial cell of the umbilical vein. [ GOC:tfm ] " []	CL:0002618	"An endothelial cell of the umbilical vein. [ GOC:tfm ] " []	63523	\N	\N	EFO	0	EFO	endothelial cell of umbilical vein	endothelial cell of umbilical vein
CL:0002543	\N	\N	"An endothelial cell that is part of the vein." [GOC:tfm]	CL:0002618	"An endothelial cell of the umbilical vein. [ GOC:tfm ] " []	194264	\N	\N	EFO	0	EFO	vein endothelial cell	endothelial cell of umbilical vein
CL:0000071	CL:0002618	\N	"The endothelial cells that line the vasculature." []	CL:0002618	"An endothelial cell of the umbilical vein. [ GOC:tfm ] " []	203675	\N	\N	EFO	1	EFO	blood vessel endothelial cell	endothelial cell of umbilical vein
CL:0000115	CL:0000071	\N	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	CL:0002618	"An endothelial cell of the umbilical vein. [ GOC:tfm ] " []	556709	\N	\N	EFO	2	EFO	endothelial cell	endothelial cell of umbilical vein
EFO:0000324	CL:0000115	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002618	"An endothelial cell of the umbilical vein. [ GOC:tfm ] " []	1139426	\N	\N	EFO	3	EFO	cell type	endothelial cell of umbilical vein
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002618	"An endothelial cell of the umbilical vein. [ GOC:tfm ] " []	2022482	\N	\N	EFO	4	EFO	material entity	endothelial cell of umbilical vein
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002618	"An endothelial cell of the umbilical vein. [ GOC:tfm ] " []	3176937	\N	\N	EFO	5	EFO	experimental factor	endothelial cell of umbilical vein
CL:0002619	\N	\N	"An adult angioblastic cell released from the bone marrow, capable of blood circulation and participation in angiogenesis by differentiating into blood vessel endothelial cells. Their existence is controversial. [ GOC:tfm PMID:20807818 PMID:9020076 ] " []	CL:0002619	"An adult angioblastic cell released from the bone marrow, capable of blood circulation and participation in angiogenesis by differentiating into blood vessel endothelial cells. Their existence is controversial. [ GOC:tfm PMID:20807818 PMID:9020076 ] " []	63524	\N	\N	EFO	0	EFO	adult endothelial progenitor cell	adult endothelial progenitor cell
CL:0000566	\N	\N	"A mesenchymal stem cell capable of developing into blood vessel endothelium." [GOC:dsd, GOC:tfm, PMID:12768659]	CL:0002619	"An adult angioblastic cell released from the bone marrow, capable of blood circulation and participation in angiogenesis by differentiating into blood vessel endothelial cells. Their existence is controversial. [ GOC:tfm PMID:20807818 PMID:9020076 ] " []	194265	\N	\N	EFO	0	EFO	angioblastic mesenchymal cell	adult endothelial progenitor cell
EFO:0000586	CL:0002619	\N	"" []	CL:0002619	"An adult angioblastic cell released from the bone marrow, capable of blood circulation and participation in angiogenesis by differentiating into blood vessel endothelial cells. Their existence is controversial. [ GOC:tfm PMID:20807818 PMID:9020076 ] " []	203676	\N	\N	EFO	1	EFO	mesenchymal stem cell	adult endothelial progenitor cell
CL:0000034	EFO:0000586	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0002619	"An adult angioblastic cell released from the bone marrow, capable of blood circulation and participation in angiogenesis by differentiating into blood vessel endothelial cells. Their existence is controversial. [ GOC:tfm PMID:20807818 PMID:9020076 ] " []	556710	\N	\N	EFO	2	EFO	stem cell	adult endothelial progenitor cell
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002619	"An adult angioblastic cell released from the bone marrow, capable of blood circulation and participation in angiogenesis by differentiating into blood vessel endothelial cells. Their existence is controversial. [ GOC:tfm PMID:20807818 PMID:9020076 ] " []	1139427	\N	\N	EFO	3	EFO	cell type	adult endothelial progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002619	"An adult angioblastic cell released from the bone marrow, capable of blood circulation and participation in angiogenesis by differentiating into blood vessel endothelial cells. Their existence is controversial. [ GOC:tfm PMID:20807818 PMID:9020076 ] " []	2022483	\N	\N	EFO	4	EFO	material entity	adult endothelial progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002619	"An adult angioblastic cell released from the bone marrow, capable of blood circulation and participation in angiogenesis by differentiating into blood vessel endothelial cells. Their existence is controversial. [ GOC:tfm PMID:20807818 PMID:9020076 ] " []	3176938	\N	\N	EFO	5	EFO	experimental factor	adult endothelial progenitor cell
CL:0002633	\N	\N	"A basal cell in the respiratory tract. [ PMID:20699479 GOC:tfm ] " []	CL:0002633	"A basal cell in the respiratory tract. [ PMID:20699479 GOC:tfm ] " []	63525	\N	\N	EFO	0	EFO	repiratory basal cell	repiratory basal cell
CL:0000646	CL:0002633	\N	"Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament." []	CL:0002633	"A basal cell in the respiratory tract. [ PMID:20699479 GOC:tfm ] " []	203677	\N	\N	EFO	1	EFO	basal cell	repiratory basal cell
CL:0000646	CL:0002633	\N	"Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament." []	CL:0002633	"A basal cell in the respiratory tract. [ PMID:20699479 GOC:tfm ] " []	203678	\N	\N	EFO	1	EFO	basal cell	repiratory basal cell
CL:0002368	CL:0002633	\N	"Epithelium of the respiratory portion of the bronchial tree." []	CL:0002633	"A basal cell in the respiratory tract. [ PMID:20699479 GOC:tfm ] " []	203679	\N	\N	EFO	1	EFO	respiratory epithelial cell	repiratory basal cell
CL:0000034	CL:0000646	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	CL:0002633	"A basal cell in the respiratory tract. [ PMID:20699479 GOC:tfm ] " []	556711	\N	\N	EFO	2	EFO	stem cell	repiratory basal cell
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0002633	"A basal cell in the respiratory tract. [ PMID:20699479 GOC:tfm ] " []	1139428	\N	\N	EFO	3	EFO	cell type	repiratory basal cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0002633	"A basal cell in the respiratory tract. [ PMID:20699479 GOC:tfm ] " []	2022484	\N	\N	EFO	4	EFO	material entity	repiratory basal cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0002633	"A basal cell in the respiratory tract. [ PMID:20699479 GOC:tfm ] " []	3176939	\N	\N	EFO	5	EFO	experimental factor	repiratory basal cell
CL:0009004	\N	\N	"Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." []	CL:0009004	"Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." []	63526	\N	\N	EFO	0	EFO	retinal cell	retinal cell
CL:0002319	CL:0009004	\N	"" []	CL:0009004	"Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." []	203680	\N	\N	EFO	1	EFO	neural cell	retinal cell
EFO:0000324	CL:0009004	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:0009004	"Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." []	203681	\N	\N	EFO	1	EFO	cell type	retinal cell
CL:0002371	CL:0002319	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:0009004	"Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." []	556712	\N	\N	EFO	2	EFO	somatic cell	retinal cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:0009004	"Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." []	556713	\N	\N	EFO	2	EFO	material entity	retinal cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:0009004	"Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." []	1139429	\N	\N	EFO	3	EFO	experimental factor	retinal cell
CL:1000488	\N	\N	"An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. [ PMID:18356246 PMID:16550043 GOC:tfm ] " []	CL:1000488	"An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. [ PMID:18356246 PMID:16550043 GOC:tfm ] " []	63527	\N	\N	EFO	0	EFO	cholangiocyte	cholangiocyte
CL:0000069	\N	\N	"" []	CL:1000488	"An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. [ PMID:18356246 PMID:16550043 GOC:tfm ] " []	194266	\N	\N	EFO	0	EFO	branched duct epithelial cell	cholangiocyte
CL:0000066	CL:1000488	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	CL:1000488	"An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. [ PMID:18356246 PMID:16550043 GOC:tfm ] " []	203682	\N	\N	EFO	1	EFO	epithelial cell	cholangiocyte
UBERON:6007435	CL:1000488	\N	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	CL:1000488	"An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. [ PMID:18356246 PMID:16550043 GOC:tfm ] " []	203683	\N	\N	EFO	1	EFO	endocrine system component	cholangiocyte
EFO:0000324	CL:0000066	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:1000488	"An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. [ PMID:18356246 PMID:16550043 GOC:tfm ] " []	556714	\N	\N	EFO	2	EFO	cell type	cholangiocyte
EFO:0000787	UBERON:6007435	\N	"" []	CL:1000488	"An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. [ PMID:18356246 PMID:16550043 GOC:tfm ] " []	556715	\N	\N	EFO	2	EFO	animal component	cholangiocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:1000488	"An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. [ PMID:18356246 PMID:16550043 GOC:tfm ] " []	1139430	\N	\N	EFO	3	EFO	material entity	cholangiocyte
EFO:0000786	EFO:0000787	\N	"" []	CL:1000488	"An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. [ PMID:18356246 PMID:16550043 GOC:tfm ] " []	1139431	\N	\N	EFO	3	EFO	anatomy basic component	cholangiocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:1000488	"An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. [ PMID:18356246 PMID:16550043 GOC:tfm ] " []	4387472	\N	\N	EFO	6	EFO	experimental factor	cholangiocyte
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	CL:1000488	"An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. [ PMID:18356246 PMID:16550043 GOC:tfm ] " []	2022486	\N	\N	EFO	4	EFO	organism part	cholangiocyte
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:1000488	"An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. [ PMID:18356246 PMID:16550043 GOC:tfm ] " []	3176940	\N	\N	EFO	5	EFO	material entity	cholangiocyte
CL:2000018	\N	\N	"Any endothelial cell of artery that is part of a coronary artery. [ GOC:TermGenie ] " []	CL:2000018	"Any endothelial cell of artery that is part of a coronary artery. [ GOC:TermGenie ] " []	63529	\N	\N	EFO	0	EFO	endothelial cell of coronary artery	endothelial cell of coronary artery
CL:0010006	\N	\N	"" []	CL:2000018	"Any endothelial cell of artery that is part of a coronary artery. [ GOC:TermGenie ] " []	194270	\N	\N	EFO	0	EFO	cardiac blood vessel endothelial cell	endothelial cell of coronary artery
CL:1000413	\N	\N	"A blood vessel endothelial cell that is part of an arterial endothelium." [GOC:tfm]	CL:2000018	"Any endothelial cell of artery that is part of a coronary artery. [ GOC:TermGenie ] " []	194271	\N	\N	EFO	0	EFO	endothelial cell of artery	endothelial cell of coronary artery
CL:0000071	CL:2000018	\N	"The endothelial cells that line the vasculature." []	CL:2000018	"Any endothelial cell of artery that is part of a coronary artery. [ GOC:TermGenie ] " []	203684	\N	\N	EFO	1	EFO	blood vessel endothelial cell	endothelial cell of coronary artery
EFO:0001955	CL:2000018	\N	"A heart component is an animal component that is part of some heart." []	CL:2000018	"Any endothelial cell of artery that is part of a coronary artery. [ GOC:TermGenie ] " []	203685	\N	\N	EFO	1	EFO	heart component	endothelial cell of coronary artery
CL:0000115	CL:0000071	\N	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	CL:2000018	"Any endothelial cell of artery that is part of a coronary artery. [ GOC:TermGenie ] " []	556716	\N	\N	EFO	2	EFO	endothelial cell	endothelial cell of coronary artery
EFO:0000324	CL:0000115	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:2000018	"Any endothelial cell of artery that is part of a coronary artery. [ GOC:TermGenie ] " []	1139432	\N	\N	EFO	3	EFO	cell type	endothelial cell of coronary artery
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:2000018	"Any endothelial cell of artery that is part of a coronary artery. [ GOC:TermGenie ] " []	2022487	\N	\N	EFO	4	EFO	material entity	endothelial cell of coronary artery
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:2000018	"Any endothelial cell of artery that is part of a coronary artery. [ GOC:TermGenie ] " []	3176941	\N	\N	EFO	5	EFO	experimental factor	endothelial cell of coronary artery
CL:2000058	\N	\N	"Any osteoblast that is part of a skull. [ GOC:TermGenie ] " []	CL:2000058	"Any osteoblast that is part of a skull. [ GOC:TermGenie ] " []	63530	\N	\N	EFO	0	EFO	calvarial osteoblast	calvarial osteoblast
CL:0000062	CL:2000058	\N	"A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone." []	CL:2000058	"Any osteoblast that is part of a skull. [ GOC:TermGenie ] " []	203686	\N	\N	EFO	1	EFO	osteoblast	calvarial osteoblast
CL:0000062	CL:2000058	\N	"A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone." []	CL:2000058	"Any osteoblast that is part of a skull. [ GOC:TermGenie ] " []	203687	\N	\N	EFO	1	EFO	osteoblast	calvarial osteoblast
EFO:0000324	CL:0000062	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:2000058	"Any osteoblast that is part of a skull. [ GOC:TermGenie ] " []	556717	\N	\N	EFO	2	EFO	cell type	calvarial osteoblast
CL:0000055	CL:0000062	\N	"A precursor cell with a limited number of potential fates." []	CL:2000058	"Any osteoblast that is part of a skull. [ GOC:TermGenie ] " []	556718	\N	\N	EFO	2	EFO	blast cell	calvarial osteoblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:2000058	"Any osteoblast that is part of a skull. [ GOC:TermGenie ] " []	1139433	\N	\N	EFO	3	EFO	material entity	calvarial osteoblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:2000058	"Any osteoblast that is part of a skull. [ GOC:TermGenie ] " []	2022488	\N	\N	EFO	4	EFO	experimental factor	calvarial osteoblast
CL:2000074	\N	\N	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	CL:2000074	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	63531	\N	\N	EFO	0	EFO	splenocyte	splenocyte
CL:0000738	CL:2000074	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:2000074	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	203688	\N	\N	EFO	1	EFO	leukocyte	splenocyte
CL:0000738	CL:2000074	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	CL:2000074	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	203689	\N	\N	EFO	1	EFO	leukocyte	splenocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:2000074	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	556719	\N	\N	EFO	2	EFO	hematopoietic cell	splenocyte
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	CL:2000074	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	556720	\N	\N	EFO	2	EFO	hematopoietic cell	splenocyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	CL:2000074	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	1139434	\N	\N	EFO	3	EFO	cell type	splenocyte
CL:0002371	CL:0000988	\N	"One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells." []	CL:2000074	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	1139435	\N	\N	EFO	3	EFO	somatic cell	splenocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CL:2000074	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	2022489	\N	\N	EFO	4	EFO	material entity	splenocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CL:2000074	"Any leukocyte that is part of a spleen. [ GOC:TermGenie ] " []	3176942	\N	\N	EFO	5	EFO	experimental factor	splenocyte
CLO:0010521	\N	\N	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	CLO:0010521	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	63532	\N	\N	EFO	0	EFO	GM08388 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM08388 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0010521	\N	"" []	CLO:0010521	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	203690	\N	\N	EFO	1	EFO	B cell derived cell line	GM08388 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0010521	\N	"" []	CLO:0010521	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	203691	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM08388 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0010521	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	556721	\N	\N	EFO	2	EFO	cell line	GM08388 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0010521	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	556722	\N	\N	EFO	2	EFO	cell line	GM08388 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0010521	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	1139436	\N	\N	EFO	3	EFO	material entity	GM08388 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0010521	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	2022490	\N	\N	EFO	4	EFO	experimental factor	GM08388 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0010523	\N	\N	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	CLO:0010523	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	63533	\N	\N	EFO	0	EFO	GM08390 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM08390 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0010523	\N	"" []	CLO:0010523	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	203692	\N	\N	EFO	1	EFO	B cell derived cell line	GM08390 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0010523	\N	"" []	CLO:0010523	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	203693	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM08390 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0010523	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	556723	\N	\N	EFO	2	EFO	cell line	GM08390 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0010523	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	556724	\N	\N	EFO	2	EFO	cell line	GM08390 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0010523	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	1139437	\N	\N	EFO	3	EFO	material entity	GM08390 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0010523	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	2022491	\N	\N	EFO	4	EFO	experimental factor	GM08390 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0010526	\N	\N	"APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0010526	"APPARENTLY HEALTHY NON-FETAL TISSUE" []	63534	\N	\N	EFO	0	EFO	GM08398 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM08398 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0010526	\N	"" []	CLO:0010526	"APPARENTLY HEALTHY NON-FETAL TISSUE" []	203694	\N	\N	EFO	1	EFO	fibroblast derived cell line	GM08398 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0010526	\N	"" []	CLO:0010526	"APPARENTLY HEALTHY NON-FETAL TISSUE" []	203695	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM08398 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0010526	"APPARENTLY HEALTHY NON-FETAL TISSUE" []	556725	\N	\N	EFO	2	EFO	cell line	GM08398 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0010526	"APPARENTLY HEALTHY NON-FETAL TISSUE" []	556726	\N	\N	EFO	2	EFO	cell line	GM08398 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0010526	"APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139438	\N	\N	EFO	3	EFO	material entity	GM08398 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0010526	"APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022492	\N	\N	EFO	4	EFO	experimental factor	GM08398 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0010557	\N	\N	"ATAXIA-TELANGIECTASIA; AT ATAXIA-TELANGIECTASIA MUTATED GENE; ATM" []	CLO:0010557	"ATAXIA-TELANGIECTASIA; AT ATAXIA-TELANGIECTASIA MUTATED GENE; ATM" []	63535	\N	\N	EFO	0	EFO	GM08436 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM08436 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0010557	\N	"" []	CLO:0010557	"ATAXIA-TELANGIECTASIA; AT ATAXIA-TELANGIECTASIA MUTATED GENE; ATM" []	203696	\N	\N	EFO	1	EFO	B cell derived cell line	GM08436 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0010557	\N	"" []	CLO:0010557	"ATAXIA-TELANGIECTASIA; AT ATAXIA-TELANGIECTASIA MUTATED GENE; ATM" []	203697	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM08436 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0010557	"ATAXIA-TELANGIECTASIA; AT ATAXIA-TELANGIECTASIA MUTATED GENE; ATM" []	556727	\N	\N	EFO	2	EFO	cell line	GM08436 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0010557	"ATAXIA-TELANGIECTASIA; AT ATAXIA-TELANGIECTASIA MUTATED GENE; ATM" []	556728	\N	\N	EFO	2	EFO	cell line	GM08436 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0010557	"ATAXIA-TELANGIECTASIA; AT ATAXIA-TELANGIECTASIA MUTATED GENE; ATM" []	1139439	\N	\N	EFO	3	EFO	material entity	GM08436 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0010557	"ATAXIA-TELANGIECTASIA; AT ATAXIA-TELANGIECTASIA MUTATED GENE; ATM" []	2022493	\N	\N	EFO	4	EFO	experimental factor	GM08436 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0011234	\N	\N	"ATAXIA-TELANGIECTASIA; AT" []	CLO:0011234	"ATAXIA-TELANGIECTASIA; AT" []	63536	\N	\N	EFO	0	EFO	GM08931 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM08931 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0011234	\N	"" []	CLO:0011234	"ATAXIA-TELANGIECTASIA; AT" []	203698	\N	\N	EFO	1	EFO	B cell derived cell line	GM08931 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0011234	\N	"" []	CLO:0011234	"ATAXIA-TELANGIECTASIA; AT" []	203699	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM08931 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011234	"ATAXIA-TELANGIECTASIA; AT" []	556729	\N	\N	EFO	2	EFO	cell line	GM08931 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011234	"ATAXIA-TELANGIECTASIA; AT" []	556730	\N	\N	EFO	2	EFO	cell line	GM08931 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0011234	"ATAXIA-TELANGIECTASIA; AT" []	1139440	\N	\N	EFO	3	EFO	material entity	GM08931 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0011234	"ATAXIA-TELANGIECTASIA; AT" []	2022494	\N	\N	EFO	4	EFO	experimental factor	GM08931 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0011235	\N	\N	"ATAXIA-TELANGIECTASIA; AT" []	CLO:0011235	"ATAXIA-TELANGIECTASIA; AT" []	63537	\N	\N	EFO	0	EFO	GM08930 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM08930 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0011235	\N	"" []	CLO:0011235	"ATAXIA-TELANGIECTASIA; AT" []	203700	\N	\N	EFO	1	EFO	B cell derived cell line	GM08930 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0011235	\N	"" []	CLO:0011235	"ATAXIA-TELANGIECTASIA; AT" []	203701	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM08930 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011235	"ATAXIA-TELANGIECTASIA; AT" []	556731	\N	\N	EFO	2	EFO	cell line	GM08930 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011235	"ATAXIA-TELANGIECTASIA; AT" []	556732	\N	\N	EFO	2	EFO	cell line	GM08930 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0011235	"ATAXIA-TELANGIECTASIA; AT" []	1139441	\N	\N	EFO	3	EFO	material entity	GM08930 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0011235	"ATAXIA-TELANGIECTASIA; AT" []	2022495	\N	\N	EFO	4	EFO	experimental factor	GM08930 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0011237	\N	\N	"ATAXIA-TELANGIECTASIA; AT" []	CLO:0011237	"ATAXIA-TELANGIECTASIA; AT" []	63538	\N	\N	EFO	0	EFO	GM08928 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM08928 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0011237	\N	"" []	CLO:0011237	"ATAXIA-TELANGIECTASIA; AT" []	203702	\N	\N	EFO	1	EFO	B cell derived cell line	GM08928 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0011237	\N	"" []	CLO:0011237	"ATAXIA-TELANGIECTASIA; AT" []	203703	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM08928 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011237	"ATAXIA-TELANGIECTASIA; AT" []	556733	\N	\N	EFO	2	EFO	cell line	GM08928 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011237	"ATAXIA-TELANGIECTASIA; AT" []	556734	\N	\N	EFO	2	EFO	cell line	GM08928 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0011237	"ATAXIA-TELANGIECTASIA; AT" []	1139442	\N	\N	EFO	3	EFO	material entity	GM08928 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0011237	"ATAXIA-TELANGIECTASIA; AT" []	2022496	\N	\N	EFO	4	EFO	experimental factor	GM08928 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0011391	\N	\N	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	CLO:0011391	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	63539	\N	\N	EFO	0	EFO	GM09585 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM09585 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0011391	\N	"" []	CLO:0011391	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	203704	\N	\N	EFO	1	EFO	B cell derived cell line	GM09585 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0011391	\N	"" []	CLO:0011391	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	203705	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM09585 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011391	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	556735	\N	\N	EFO	2	EFO	cell line	GM09585 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011391	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	556736	\N	\N	EFO	2	EFO	cell line	GM09585 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0011391	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	1139443	\N	\N	EFO	3	EFO	material entity	GM09585 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0011391	"ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT" []	2022497	\N	\N	EFO	4	EFO	experimental factor	GM09585 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0011394	\N	\N	"ATAXIA-TELANGIECTASIA; AT" []	CLO:0011394	"ATAXIA-TELANGIECTASIA; AT" []	63540	\N	\N	EFO	0	EFO	GM09583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM09583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0011394	\N	"" []	CLO:0011394	"ATAXIA-TELANGIECTASIA; AT" []	203706	\N	\N	EFO	1	EFO	B cell derived cell line	GM09583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0011394	\N	"" []	CLO:0011394	"ATAXIA-TELANGIECTASIA; AT" []	203707	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM09583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011394	"ATAXIA-TELANGIECTASIA; AT" []	556737	\N	\N	EFO	2	EFO	cell line	GM09583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011394	"ATAXIA-TELANGIECTASIA; AT" []	556738	\N	\N	EFO	2	EFO	cell line	GM09583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0011394	"ATAXIA-TELANGIECTASIA; AT" []	1139444	\N	\N	EFO	3	EFO	material entity	GM09583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0011394	"ATAXIA-TELANGIECTASIA; AT" []	2022498	\N	\N	EFO	4	EFO	experimental factor	GM09583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0011436	\N	\N	"ATAXIA-TELANGIECTASIA; AT" []	CLO:0011436	"ATAXIA-TELANGIECTASIA; AT" []	63541	\N	\N	EFO	0	EFO	GM09581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM09581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0011436	\N	"" []	CLO:0011436	"ATAXIA-TELANGIECTASIA; AT" []	203708	\N	\N	EFO	1	EFO	B cell derived cell line	GM09581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0011436	\N	"" []	CLO:0011436	"ATAXIA-TELANGIECTASIA; AT" []	203709	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM09581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011436	"ATAXIA-TELANGIECTASIA; AT" []	556739	\N	\N	EFO	2	EFO	cell line	GM09581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011436	"ATAXIA-TELANGIECTASIA; AT" []	556740	\N	\N	EFO	2	EFO	cell line	GM09581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0011436	"ATAXIA-TELANGIECTASIA; AT" []	1139445	\N	\N	EFO	3	EFO	material entity	GM09581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0011436	"ATAXIA-TELANGIECTASIA; AT" []	2022499	\N	\N	EFO	4	EFO	experimental factor	GM09581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0011438	\N	\N	"ATAXIA-TELANGIECTASIA; AT" []	CLO:0011438	"ATAXIA-TELANGIECTASIA; AT" []	63542	\N	\N	EFO	0	EFO	GM09579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM09579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0011438	\N	"" []	CLO:0011438	"ATAXIA-TELANGIECTASIA; AT" []	203710	\N	\N	EFO	1	EFO	B cell derived cell line	GM09579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0011438	\N	"" []	CLO:0011438	"ATAXIA-TELANGIECTASIA; AT" []	203711	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM09579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011438	"ATAXIA-TELANGIECTASIA; AT" []	556741	\N	\N	EFO	2	EFO	cell line	GM09579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0011438	"ATAXIA-TELANGIECTASIA; AT" []	556742	\N	\N	EFO	2	EFO	cell line	GM09579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0011438	"ATAXIA-TELANGIECTASIA; AT" []	1139446	\N	\N	EFO	3	EFO	material entity	GM09579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0011438	"ATAXIA-TELANGIECTASIA; AT" []	2022500	\N	\N	EFO	4	EFO	experimental factor	GM09579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0012496	\N	\N	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	CLO:0012496	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	63543	\N	\N	EFO	0	EFO	ND03432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND03432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0012496	\N	"" []	CLO:0012496	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	203712	\N	\N	EFO	1	EFO	B cell derived cell line	ND03432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0012496	\N	"" []	CLO:0012496	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	203713	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND03432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0012496	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	556743	\N	\N	EFO	2	EFO	cell line	ND03432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0012496	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	556744	\N	\N	EFO	2	EFO	cell line	ND03432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0012496	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	1139447	\N	\N	EFO	3	EFO	material entity	ND03432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0012496	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	2022501	\N	\N	EFO	4	EFO	experimental factor	ND03432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013077	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013077	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63544	\N	\N	EFO	0	EFO	GM17289 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17289 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013077	\N	"" []	CLO:0013077	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203714	\N	\N	EFO	1	EFO	B cell derived cell line	GM17289 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013077	\N	"" []	CLO:0013077	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203715	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17289 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013077	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556745	\N	\N	EFO	2	EFO	cell line	GM17289 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013077	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556746	\N	\N	EFO	2	EFO	cell line	GM17289 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013077	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139448	\N	\N	EFO	3	EFO	material entity	GM17289 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013077	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022502	\N	\N	EFO	4	EFO	experimental factor	GM17289 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013080	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013080	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63545	\N	\N	EFO	0	EFO	GM17288 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17288 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013080	\N	"" []	CLO:0013080	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203716	\N	\N	EFO	1	EFO	B cell derived cell line	GM17288 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013080	\N	"" []	CLO:0013080	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203717	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17288 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013080	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556747	\N	\N	EFO	2	EFO	cell line	GM17288 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013080	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556748	\N	\N	EFO	2	EFO	cell line	GM17288 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013080	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139449	\N	\N	EFO	3	EFO	material entity	GM17288 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013080	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022503	\N	\N	EFO	4	EFO	experimental factor	GM17288 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013082	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013082	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63546	\N	\N	EFO	0	EFO	GM17287 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17287 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013082	\N	"" []	CLO:0013082	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203718	\N	\N	EFO	1	EFO	B cell derived cell line	GM17287 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013082	\N	"" []	CLO:0013082	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203719	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17287 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013082	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556749	\N	\N	EFO	2	EFO	cell line	GM17287 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013082	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556750	\N	\N	EFO	2	EFO	cell line	GM17287 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013082	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139450	\N	\N	EFO	3	EFO	material entity	GM17287 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013082	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022504	\N	\N	EFO	4	EFO	experimental factor	GM17287 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013086	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013086	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63547	\N	\N	EFO	0	EFO	GM17286 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17286 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013086	\N	"" []	CLO:0013086	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203720	\N	\N	EFO	1	EFO	B cell derived cell line	GM17286 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013086	\N	"" []	CLO:0013086	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203721	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17286 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013086	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556751	\N	\N	EFO	2	EFO	cell line	GM17286 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013086	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556752	\N	\N	EFO	2	EFO	cell line	GM17286 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013086	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139451	\N	\N	EFO	3	EFO	material entity	GM17286 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013086	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022505	\N	\N	EFO	4	EFO	experimental factor	GM17286 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013090	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013090	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63548	\N	\N	EFO	0	EFO	GM17285 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17285 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013090	\N	"" []	CLO:0013090	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203722	\N	\N	EFO	1	EFO	B cell derived cell line	GM17285 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013090	\N	"" []	CLO:0013090	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203723	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17285 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013090	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556753	\N	\N	EFO	2	EFO	cell line	GM17285 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013090	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556754	\N	\N	EFO	2	EFO	cell line	GM17285 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013090	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139452	\N	\N	EFO	3	EFO	material entity	GM17285 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013090	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022506	\N	\N	EFO	4	EFO	experimental factor	GM17285 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013092	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013092	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63549	\N	\N	EFO	0	EFO	GM17284 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17284 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013092	\N	"" []	CLO:0013092	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203724	\N	\N	EFO	1	EFO	B cell derived cell line	GM17284 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013092	\N	"" []	CLO:0013092	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203725	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17284 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013092	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556755	\N	\N	EFO	2	EFO	cell line	GM17284 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013092	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556756	\N	\N	EFO	2	EFO	cell line	GM17284 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013092	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139453	\N	\N	EFO	3	EFO	material entity	GM17284 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013092	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022507	\N	\N	EFO	4	EFO	experimental factor	GM17284 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013094	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013094	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63550	\N	\N	EFO	0	EFO	GM17282 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17282 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013094	\N	"" []	CLO:0013094	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203726	\N	\N	EFO	1	EFO	B cell derived cell line	GM17282 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013094	\N	"" []	CLO:0013094	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203727	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17282 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013094	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556757	\N	\N	EFO	2	EFO	cell line	GM17282 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013094	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556758	\N	\N	EFO	2	EFO	cell line	GM17282 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013094	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139454	\N	\N	EFO	3	EFO	material entity	GM17282 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013094	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022508	\N	\N	EFO	4	EFO	experimental factor	GM17282 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013095	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013095	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63551	\N	\N	EFO	0	EFO	GM17283 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17283 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013095	\N	"" []	CLO:0013095	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203728	\N	\N	EFO	1	EFO	B cell derived cell line	GM17283 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013095	\N	"" []	CLO:0013095	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203729	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17283 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013095	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556759	\N	\N	EFO	2	EFO	cell line	GM17283 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013095	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556760	\N	\N	EFO	2	EFO	cell line	GM17283 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013095	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139455	\N	\N	EFO	3	EFO	material entity	GM17283 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013095	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022509	\N	\N	EFO	4	EFO	experimental factor	GM17283 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013096	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	CLO:0013096	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	63552	\N	\N	EFO	0	EFO	GM17280 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17280 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013096	\N	"" []	CLO:0013096	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	203730	\N	\N	EFO	1	EFO	B cell derived cell line	GM17280 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013096	\N	"" []	CLO:0013096	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	203731	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17280 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013096	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	556761	\N	\N	EFO	2	EFO	cell line	GM17280 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013096	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	556762	\N	\N	EFO	2	EFO	cell line	GM17280 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013096	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	1139456	\N	\N	EFO	3	EFO	material entity	GM17280 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013096	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	2022510	\N	\N	EFO	4	EFO	experimental factor	GM17280 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013097	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	CLO:0013097	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	63553	\N	\N	EFO	0	EFO	GM17281 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17281 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013097	\N	"" []	CLO:0013097	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	203732	\N	\N	EFO	1	EFO	B cell derived cell line	GM17281 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013097	\N	"" []	CLO:0013097	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	203733	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17281 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013097	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	556763	\N	\N	EFO	2	EFO	cell line	GM17281 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013097	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	556764	\N	\N	EFO	2	EFO	cell line	GM17281 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013097	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	1139457	\N	\N	EFO	3	EFO	material entity	GM17281 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013097	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	2022511	\N	\N	EFO	4	EFO	experimental factor	GM17281 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013124	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013124	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63554	\N	\N	EFO	0	EFO	GM17296 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17296 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013124	\N	"" []	CLO:0013124	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203734	\N	\N	EFO	1	EFO	B cell derived cell line	GM17296 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013124	\N	"" []	CLO:0013124	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203735	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17296 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013124	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556765	\N	\N	EFO	2	EFO	cell line	GM17296 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013124	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556766	\N	\N	EFO	2	EFO	cell line	GM17296 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013124	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139458	\N	\N	EFO	3	EFO	material entity	GM17296 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013124	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022512	\N	\N	EFO	4	EFO	experimental factor	GM17296 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013127	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013127	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63555	\N	\N	EFO	0	EFO	GM17295 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17295 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013127	\N	"" []	CLO:0013127	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203736	\N	\N	EFO	1	EFO	B cell derived cell line	GM17295 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013127	\N	"" []	CLO:0013127	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203737	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17295 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013127	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556767	\N	\N	EFO	2	EFO	cell line	GM17295 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013127	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556768	\N	\N	EFO	2	EFO	cell line	GM17295 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013127	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139459	\N	\N	EFO	3	EFO	material entity	GM17295 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013127	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022513	\N	\N	EFO	4	EFO	experimental factor	GM17295 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013135	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013135	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63556	\N	\N	EFO	0	EFO	GM17291 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17291 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013135	\N	"" []	CLO:0013135	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203738	\N	\N	EFO	1	EFO	B cell derived cell line	GM17291 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013135	\N	"" []	CLO:0013135	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203739	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17291 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013135	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556769	\N	\N	EFO	2	EFO	cell line	GM17291 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013135	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556770	\N	\N	EFO	2	EFO	cell line	GM17291 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013135	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139460	\N	\N	EFO	3	EFO	material entity	GM17291 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013135	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022514	\N	\N	EFO	4	EFO	experimental factor	GM17291 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013136	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013136	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63557	\N	\N	EFO	0	EFO	GM17292 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17292 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013136	\N	"" []	CLO:0013136	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203740	\N	\N	EFO	1	EFO	B cell derived cell line	GM17292 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013136	\N	"" []	CLO:0013136	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203741	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17292 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013136	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556771	\N	\N	EFO	2	EFO	cell line	GM17292 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013136	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556772	\N	\N	EFO	2	EFO	cell line	GM17292 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013136	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139461	\N	\N	EFO	3	EFO	material entity	GM17292 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013136	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022515	\N	\N	EFO	4	EFO	experimental factor	GM17292 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013137	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013137	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63558	\N	\N	EFO	0	EFO	GM17293 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17293 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013137	\N	"" []	CLO:0013137	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203742	\N	\N	EFO	1	EFO	B cell derived cell line	GM17293 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013137	\N	"" []	CLO:0013137	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203743	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17293 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013137	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556773	\N	\N	EFO	2	EFO	cell line	GM17293 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013137	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556774	\N	\N	EFO	2	EFO	cell line	GM17293 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013137	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139462	\N	\N	EFO	3	EFO	material entity	GM17293 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013137	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022516	\N	\N	EFO	4	EFO	experimental factor	GM17293 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013138	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013138	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63559	\N	\N	EFO	0	EFO	GM17294 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17294 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013138	\N	"" []	CLO:0013138	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203744	\N	\N	EFO	1	EFO	B cell derived cell line	GM17294 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013138	\N	"" []	CLO:0013138	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203745	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17294 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013138	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556775	\N	\N	EFO	2	EFO	cell line	GM17294 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013138	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556776	\N	\N	EFO	2	EFO	cell line	GM17294 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013138	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139463	\N	\N	EFO	3	EFO	material entity	GM17294 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013138	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022517	\N	\N	EFO	4	EFO	experimental factor	GM17294 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013140	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013140	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63560	\N	\N	EFO	0	EFO	GM17290 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17290 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013140	\N	"" []	CLO:0013140	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203746	\N	\N	EFO	1	EFO	B cell derived cell line	GM17290 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013140	\N	"" []	CLO:0013140	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203747	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17290 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013140	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556777	\N	\N	EFO	2	EFO	cell line	GM17290 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013140	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556778	\N	\N	EFO	2	EFO	cell line	GM17290 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013140	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139464	\N	\N	EFO	3	EFO	material entity	GM17290 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013140	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022518	\N	\N	EFO	4	EFO	experimental factor	GM17290 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013163	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013163	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63561	\N	\N	EFO	0	EFO	GM17265 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17265 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013163	\N	"" []	CLO:0013163	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203748	\N	\N	EFO	1	EFO	B cell derived cell line	GM17265 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013163	\N	"" []	CLO:0013163	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203749	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17265 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013163	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556779	\N	\N	EFO	2	EFO	cell line	GM17265 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013163	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556780	\N	\N	EFO	2	EFO	cell line	GM17265 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013163	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139465	\N	\N	EFO	3	EFO	material entity	GM17265 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013163	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022519	\N	\N	EFO	4	EFO	experimental factor	GM17265 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013168	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013168	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63562	\N	\N	EFO	0	EFO	GM17264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013168	\N	"" []	CLO:0013168	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203750	\N	\N	EFO	1	EFO	B cell derived cell line	GM17264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013168	\N	"" []	CLO:0013168	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203751	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013168	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556781	\N	\N	EFO	2	EFO	cell line	GM17264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013168	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556782	\N	\N	EFO	2	EFO	cell line	GM17264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013168	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139466	\N	\N	EFO	3	EFO	material entity	GM17264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013168	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022520	\N	\N	EFO	4	EFO	experimental factor	GM17264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013169	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013169	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63563	\N	\N	EFO	0	EFO	GM17263 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17263 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013169	\N	"" []	CLO:0013169	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203752	\N	\N	EFO	1	EFO	B cell derived cell line	GM17263 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013169	\N	"" []	CLO:0013169	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203753	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17263 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013169	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556783	\N	\N	EFO	2	EFO	cell line	GM17263 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013169	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556784	\N	\N	EFO	2	EFO	cell line	GM17263 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013169	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139467	\N	\N	EFO	3	EFO	material entity	GM17263 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013169	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022521	\N	\N	EFO	4	EFO	experimental factor	GM17263 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013173	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013173	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63564	\N	\N	EFO	0	EFO	GM17262 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17262 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013173	\N	"" []	CLO:0013173	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203754	\N	\N	EFO	1	EFO	B cell derived cell line	GM17262 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013173	\N	"" []	CLO:0013173	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203755	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17262 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013173	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556785	\N	\N	EFO	2	EFO	cell line	GM17262 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013173	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556786	\N	\N	EFO	2	EFO	cell line	GM17262 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013173	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139468	\N	\N	EFO	3	EFO	material entity	GM17262 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013173	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022522	\N	\N	EFO	4	EFO	experimental factor	GM17262 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013176	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013176	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63565	\N	\N	EFO	0	EFO	GM17269 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17269 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013176	\N	"" []	CLO:0013176	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203756	\N	\N	EFO	1	EFO	B cell derived cell line	GM17269 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013176	\N	"" []	CLO:0013176	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203757	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17269 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013176	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556787	\N	\N	EFO	2	EFO	cell line	GM17269 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013176	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556788	\N	\N	EFO	2	EFO	cell line	GM17269 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013176	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139469	\N	\N	EFO	3	EFO	material entity	GM17269 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013176	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022523	\N	\N	EFO	4	EFO	experimental factor	GM17269 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013177	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013177	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63566	\N	\N	EFO	0	EFO	GM17268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013177	\N	"" []	CLO:0013177	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203758	\N	\N	EFO	1	EFO	B cell derived cell line	GM17268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013177	\N	"" []	CLO:0013177	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203759	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013177	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556789	\N	\N	EFO	2	EFO	cell line	GM17268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013177	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556790	\N	\N	EFO	2	EFO	cell line	GM17268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013177	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139470	\N	\N	EFO	3	EFO	material entity	GM17268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013177	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022524	\N	\N	EFO	4	EFO	experimental factor	GM17268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013179	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013179	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63567	\N	\N	EFO	0	EFO	GM17267 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17267 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013179	\N	"" []	CLO:0013179	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203760	\N	\N	EFO	1	EFO	B cell derived cell line	GM17267 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013179	\N	"" []	CLO:0013179	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203761	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17267 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013179	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556791	\N	\N	EFO	2	EFO	cell line	GM17267 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013179	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556792	\N	\N	EFO	2	EFO	cell line	GM17267 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013179	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139471	\N	\N	EFO	3	EFO	material entity	GM17267 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013179	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022525	\N	\N	EFO	4	EFO	experimental factor	GM17267 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013181	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013181	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63568	\N	\N	EFO	0	EFO	GM17266 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17266 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013181	\N	"" []	CLO:0013181	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203762	\N	\N	EFO	1	EFO	B cell derived cell line	GM17266 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013181	\N	"" []	CLO:0013181	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203763	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17266 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013181	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556793	\N	\N	EFO	2	EFO	cell line	GM17266 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013181	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556794	\N	\N	EFO	2	EFO	cell line	GM17266 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013181	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139472	\N	\N	EFO	3	EFO	material entity	GM17266 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013181	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022526	\N	\N	EFO	4	EFO	experimental factor	GM17266 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013182	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013182	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63569	\N	\N	EFO	0	EFO	GM17260 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17260 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013182	\N	"" []	CLO:0013182	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203764	\N	\N	EFO	1	EFO	B cell derived cell line	GM17260 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013182	\N	"" []	CLO:0013182	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203765	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17260 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013182	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556795	\N	\N	EFO	2	EFO	cell line	GM17260 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013182	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556796	\N	\N	EFO	2	EFO	cell line	GM17260 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013182	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139473	\N	\N	EFO	3	EFO	material entity	GM17260 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013182	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022527	\N	\N	EFO	4	EFO	experimental factor	GM17260 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013183	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013183	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63570	\N	\N	EFO	0	EFO	GM17261 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17261 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013183	\N	"" []	CLO:0013183	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203766	\N	\N	EFO	1	EFO	B cell derived cell line	GM17261 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013183	\N	"" []	CLO:0013183	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203767	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17261 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013183	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556797	\N	\N	EFO	2	EFO	cell line	GM17261 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013183	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556798	\N	\N	EFO	2	EFO	cell line	GM17261 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013183	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139474	\N	\N	EFO	3	EFO	material entity	GM17261 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013183	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022528	\N	\N	EFO	4	EFO	experimental factor	GM17261 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013193	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013193	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63571	\N	\N	EFO	0	EFO	GM17274 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17274 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013193	\N	"" []	CLO:0013193	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203768	\N	\N	EFO	1	EFO	B cell derived cell line	GM17274 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013193	\N	"" []	CLO:0013193	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203769	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17274 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013193	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556799	\N	\N	EFO	2	EFO	cell line	GM17274 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013193	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556800	\N	\N	EFO	2	EFO	cell line	GM17274 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013193	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139475	\N	\N	EFO	3	EFO	material entity	GM17274 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013193	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022529	\N	\N	EFO	4	EFO	experimental factor	GM17274 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013197	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013197	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63572	\N	\N	EFO	0	EFO	GM17273 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17273 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013197	\N	"" []	CLO:0013197	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203770	\N	\N	EFO	1	EFO	B cell derived cell line	GM17273 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013197	\N	"" []	CLO:0013197	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203771	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17273 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013197	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556801	\N	\N	EFO	2	EFO	cell line	GM17273 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013197	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556802	\N	\N	EFO	2	EFO	cell line	GM17273 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013197	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139476	\N	\N	EFO	3	EFO	material entity	GM17273 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013197	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022530	\N	\N	EFO	4	EFO	experimental factor	GM17273 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013199	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013199	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63573	\N	\N	EFO	0	EFO	GM17276 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17276 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013199	\N	"" []	CLO:0013199	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203772	\N	\N	EFO	1	EFO	B cell derived cell line	GM17276 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013199	\N	"" []	CLO:0013199	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203773	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17276 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013199	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556803	\N	\N	EFO	2	EFO	cell line	GM17276 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013199	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556804	\N	\N	EFO	2	EFO	cell line	GM17276 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013199	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139477	\N	\N	EFO	3	EFO	material entity	GM17276 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013199	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022531	\N	\N	EFO	4	EFO	experimental factor	GM17276 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013202	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013202	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63574	\N	\N	EFO	0	EFO	GM17275 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17275 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013202	\N	"" []	CLO:0013202	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203774	\N	\N	EFO	1	EFO	B cell derived cell line	GM17275 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013202	\N	"" []	CLO:0013202	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203775	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17275 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013202	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556805	\N	\N	EFO	2	EFO	cell line	GM17275 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013202	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556806	\N	\N	EFO	2	EFO	cell line	GM17275 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013202	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139478	\N	\N	EFO	3	EFO	material entity	GM17275 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013202	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022532	\N	\N	EFO	4	EFO	experimental factor	GM17275 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013204	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013204	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63575	\N	\N	EFO	0	EFO	GM17278 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17278 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013204	\N	"" []	CLO:0013204	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203776	\N	\N	EFO	1	EFO	B cell derived cell line	GM17278 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013204	\N	"" []	CLO:0013204	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203777	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17278 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013204	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556807	\N	\N	EFO	2	EFO	cell line	GM17278 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013204	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556808	\N	\N	EFO	2	EFO	cell line	GM17278 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013204	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139479	\N	\N	EFO	3	EFO	material entity	GM17278 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013204	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022533	\N	\N	EFO	4	EFO	experimental factor	GM17278 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013208	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013208	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63576	\N	\N	EFO	0	EFO	GM17277 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17277 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013208	\N	"" []	CLO:0013208	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203778	\N	\N	EFO	1	EFO	B cell derived cell line	GM17277 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013208	\N	"" []	CLO:0013208	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203779	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17277 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013208	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556809	\N	\N	EFO	2	EFO	cell line	GM17277 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013208	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556810	\N	\N	EFO	2	EFO	cell line	GM17277 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013208	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139480	\N	\N	EFO	3	EFO	material entity	GM17277 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013208	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022534	\N	\N	EFO	4	EFO	experimental factor	GM17277 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013210	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013210	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63577	\N	\N	EFO	0	EFO	GM17279 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17279 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013210	\N	"" []	CLO:0013210	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203780	\N	\N	EFO	1	EFO	B cell derived cell line	GM17279 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013210	\N	"" []	CLO:0013210	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203781	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17279 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013210	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556811	\N	\N	EFO	2	EFO	cell line	GM17279 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013210	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556812	\N	\N	EFO	2	EFO	cell line	GM17279 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013210	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139481	\N	\N	EFO	3	EFO	material entity	GM17279 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013210	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022535	\N	\N	EFO	4	EFO	experimental factor	GM17279 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013212	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013212	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63578	\N	\N	EFO	0	EFO	GM17270 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17270 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013212	\N	"" []	CLO:0013212	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203782	\N	\N	EFO	1	EFO	B cell derived cell line	GM17270 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013212	\N	"" []	CLO:0013212	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203783	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17270 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013212	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556813	\N	\N	EFO	2	EFO	cell line	GM17270 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013212	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556814	\N	\N	EFO	2	EFO	cell line	GM17270 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013212	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139482	\N	\N	EFO	3	EFO	material entity	GM17270 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013212	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022536	\N	\N	EFO	4	EFO	experimental factor	GM17270 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013213	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013213	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63579	\N	\N	EFO	0	EFO	GM17271 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17271 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013213	\N	"" []	CLO:0013213	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203784	\N	\N	EFO	1	EFO	B cell derived cell line	GM17271 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013213	\N	"" []	CLO:0013213	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203785	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17271 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013213	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556815	\N	\N	EFO	2	EFO	cell line	GM17271 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013213	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556816	\N	\N	EFO	2	EFO	cell line	GM17271 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013213	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139483	\N	\N	EFO	3	EFO	material entity	GM17271 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013213	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022537	\N	\N	EFO	4	EFO	experimental factor	GM17271 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013214	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013214	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63580	\N	\N	EFO	0	EFO	GM17272 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17272 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013214	\N	"" []	CLO:0013214	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203786	\N	\N	EFO	1	EFO	B cell derived cell line	GM17272 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013214	\N	"" []	CLO:0013214	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203787	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17272 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013214	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556817	\N	\N	EFO	2	EFO	cell line	GM17272 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013214	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556818	\N	\N	EFO	2	EFO	cell line	GM17272 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013214	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139484	\N	\N	EFO	3	EFO	material entity	GM17272 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013214	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022538	\N	\N	EFO	4	EFO	experimental factor	GM17272 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013751	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013751	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63581	\N	\N	EFO	0	EFO	GM17180 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17180 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013751	\N	"" []	CLO:0013751	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203788	\N	\N	EFO	1	EFO	B cell derived cell line	GM17180 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013751	\N	"" []	CLO:0013751	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203789	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17180 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013751	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556819	\N	\N	EFO	2	EFO	cell line	GM17180 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013751	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556820	\N	\N	EFO	2	EFO	cell line	GM17180 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013751	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139485	\N	\N	EFO	3	EFO	material entity	GM17180 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013751	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022539	\N	\N	EFO	4	EFO	experimental factor	GM17180 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013752	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013752	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63582	\N	\N	EFO	0	EFO	GM17184 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17184 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013752	\N	"" []	CLO:0013752	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203790	\N	\N	EFO	1	EFO	B cell derived cell line	GM17184 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013752	\N	"" []	CLO:0013752	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203791	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17184 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013752	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556821	\N	\N	EFO	2	EFO	cell line	GM17184 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013752	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556822	\N	\N	EFO	2	EFO	cell line	GM17184 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013752	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139486	\N	\N	EFO	3	EFO	material entity	GM17184 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013752	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022540	\N	\N	EFO	4	EFO	experimental factor	GM17184 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013753	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013753	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63583	\N	\N	EFO	0	EFO	GM17183 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17183 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013753	\N	"" []	CLO:0013753	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203792	\N	\N	EFO	1	EFO	B cell derived cell line	GM17183 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013753	\N	"" []	CLO:0013753	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203793	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17183 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013753	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556823	\N	\N	EFO	2	EFO	cell line	GM17183 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013753	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556824	\N	\N	EFO	2	EFO	cell line	GM17183 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013753	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139487	\N	\N	EFO	3	EFO	material entity	GM17183 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013753	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022541	\N	\N	EFO	4	EFO	experimental factor	GM17183 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013754	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013754	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63584	\N	\N	EFO	0	EFO	GM17182 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17182 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013754	\N	"" []	CLO:0013754	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203794	\N	\N	EFO	1	EFO	B cell derived cell line	GM17182 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013754	\N	"" []	CLO:0013754	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203795	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17182 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013754	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556825	\N	\N	EFO	2	EFO	cell line	GM17182 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013754	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556826	\N	\N	EFO	2	EFO	cell line	GM17182 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013754	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139488	\N	\N	EFO	3	EFO	material entity	GM17182 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013754	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022542	\N	\N	EFO	4	EFO	experimental factor	GM17182 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013755	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013755	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63585	\N	\N	EFO	0	EFO	GM17181 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17181 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013755	\N	"" []	CLO:0013755	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203796	\N	\N	EFO	1	EFO	B cell derived cell line	GM17181 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013755	\N	"" []	CLO:0013755	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203797	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17181 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013755	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556827	\N	\N	EFO	2	EFO	cell line	GM17181 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013755	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556828	\N	\N	EFO	2	EFO	cell line	GM17181 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013755	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139489	\N	\N	EFO	3	EFO	material entity	GM17181 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013755	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022543	\N	\N	EFO	4	EFO	experimental factor	GM17181 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013775	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013775	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63586	\N	\N	EFO	0	EFO	GM17187 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17187 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013775	\N	"" []	CLO:0013775	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203798	\N	\N	EFO	1	EFO	B cell derived cell line	GM17187 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013775	\N	"" []	CLO:0013775	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203799	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17187 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013775	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556829	\N	\N	EFO	2	EFO	cell line	GM17187 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013775	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556830	\N	\N	EFO	2	EFO	cell line	GM17187 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013775	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139490	\N	\N	EFO	3	EFO	material entity	GM17187 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013775	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022544	\N	\N	EFO	4	EFO	experimental factor	GM17187 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013777	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013777	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63587	\N	\N	EFO	0	EFO	GM17188 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17188 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013777	\N	"" []	CLO:0013777	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203800	\N	\N	EFO	1	EFO	B cell derived cell line	GM17188 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013777	\N	"" []	CLO:0013777	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203801	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17188 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013777	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556831	\N	\N	EFO	2	EFO	cell line	GM17188 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013777	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556832	\N	\N	EFO	2	EFO	cell line	GM17188 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013777	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139491	\N	\N	EFO	3	EFO	material entity	GM17188 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013777	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022545	\N	\N	EFO	4	EFO	experimental factor	GM17188 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013781	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013781	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63588	\N	\N	EFO	0	EFO	GM17185 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17185 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013781	\N	"" []	CLO:0013781	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203802	\N	\N	EFO	1	EFO	B cell derived cell line	GM17185 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013781	\N	"" []	CLO:0013781	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203803	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17185 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013781	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556833	\N	\N	EFO	2	EFO	cell line	GM17185 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013781	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556834	\N	\N	EFO	2	EFO	cell line	GM17185 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013781	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139492	\N	\N	EFO	3	EFO	material entity	GM17185 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013781	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022546	\N	\N	EFO	4	EFO	experimental factor	GM17185 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013784	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013784	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63589	\N	\N	EFO	0	EFO	GM17186 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17186 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013784	\N	"" []	CLO:0013784	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203804	\N	\N	EFO	1	EFO	B cell derived cell line	GM17186 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013784	\N	"" []	CLO:0013784	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203805	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17186 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013784	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556835	\N	\N	EFO	2	EFO	cell line	GM17186 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013784	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556836	\N	\N	EFO	2	EFO	cell line	GM17186 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013784	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139493	\N	\N	EFO	3	EFO	material entity	GM17186 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013784	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022547	\N	\N	EFO	4	EFO	experimental factor	GM17186 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013790	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013790	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63590	\N	\N	EFO	0	EFO	GM17189 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17189 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013790	\N	"" []	CLO:0013790	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203806	\N	\N	EFO	1	EFO	B cell derived cell line	GM17189 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013790	\N	"" []	CLO:0013790	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203807	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17189 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013790	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556837	\N	\N	EFO	2	EFO	cell line	GM17189 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013790	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556838	\N	\N	EFO	2	EFO	cell line	GM17189 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013790	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139494	\N	\N	EFO	3	EFO	material entity	GM17189 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013790	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022548	\N	\N	EFO	4	EFO	experimental factor	GM17189 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013793	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013793	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63591	\N	\N	EFO	0	EFO	GM17191 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17191 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013793	\N	"" []	CLO:0013793	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203808	\N	\N	EFO	1	EFO	B cell derived cell line	GM17191 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013793	\N	"" []	CLO:0013793	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203809	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17191 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013793	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556839	\N	\N	EFO	2	EFO	cell line	GM17191 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013793	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556840	\N	\N	EFO	2	EFO	cell line	GM17191 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013793	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139495	\N	\N	EFO	3	EFO	material entity	GM17191 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013793	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022549	\N	\N	EFO	4	EFO	experimental factor	GM17191 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013794	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013794	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63592	\N	\N	EFO	0	EFO	GM17190 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17190 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013794	\N	"" []	CLO:0013794	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203810	\N	\N	EFO	1	EFO	B cell derived cell line	GM17190 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013794	\N	"" []	CLO:0013794	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203811	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17190 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013794	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556841	\N	\N	EFO	2	EFO	cell line	GM17190 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013794	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556842	\N	\N	EFO	2	EFO	cell line	GM17190 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013794	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139496	\N	\N	EFO	3	EFO	material entity	GM17190 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013794	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022550	\N	\N	EFO	4	EFO	experimental factor	GM17190 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013795	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013795	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63593	\N	\N	EFO	0	EFO	GM17193 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17193 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013795	\N	"" []	CLO:0013795	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203812	\N	\N	EFO	1	EFO	B cell derived cell line	GM17193 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013795	\N	"" []	CLO:0013795	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203813	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17193 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013795	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556843	\N	\N	EFO	2	EFO	cell line	GM17193 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013795	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556844	\N	\N	EFO	2	EFO	cell line	GM17193 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013795	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139497	\N	\N	EFO	3	EFO	material entity	GM17193 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013795	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022551	\N	\N	EFO	4	EFO	experimental factor	GM17193 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013796	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013796	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63594	\N	\N	EFO	0	EFO	GM17192 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17192 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013796	\N	"" []	CLO:0013796	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203814	\N	\N	EFO	1	EFO	B cell derived cell line	GM17192 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013796	\N	"" []	CLO:0013796	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203815	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17192 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013796	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556845	\N	\N	EFO	2	EFO	cell line	GM17192 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013796	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556846	\N	\N	EFO	2	EFO	cell line	GM17192 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013796	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139498	\N	\N	EFO	3	EFO	material entity	GM17192 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013796	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022552	\N	\N	EFO	4	EFO	experimental factor	GM17192 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013797	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013797	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63595	\N	\N	EFO	0	EFO	GM17195 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17195 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013797	\N	"" []	CLO:0013797	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203816	\N	\N	EFO	1	EFO	B cell derived cell line	GM17195 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013797	\N	"" []	CLO:0013797	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203817	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17195 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013797	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556847	\N	\N	EFO	2	EFO	cell line	GM17195 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013797	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556848	\N	\N	EFO	2	EFO	cell line	GM17195 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013797	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139499	\N	\N	EFO	3	EFO	material entity	GM17195 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013797	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022553	\N	\N	EFO	4	EFO	experimental factor	GM17195 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013798	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013798	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63596	\N	\N	EFO	0	EFO	GM17194 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17194 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013798	\N	"" []	CLO:0013798	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203818	\N	\N	EFO	1	EFO	B cell derived cell line	GM17194 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013798	\N	"" []	CLO:0013798	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203819	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17194 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013798	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556849	\N	\N	EFO	2	EFO	cell line	GM17194 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013798	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556850	\N	\N	EFO	2	EFO	cell line	GM17194 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013798	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139500	\N	\N	EFO	3	EFO	material entity	GM17194 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013798	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022554	\N	\N	EFO	4	EFO	experimental factor	GM17194 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013816	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013816	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63597	\N	\N	EFO	0	EFO	GM17196 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17196 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013816	\N	"" []	CLO:0013816	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203820	\N	\N	EFO	1	EFO	B cell derived cell line	GM17196 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013816	\N	"" []	CLO:0013816	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203821	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17196 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013816	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556851	\N	\N	EFO	2	EFO	cell line	GM17196 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013816	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556852	\N	\N	EFO	2	EFO	cell line	GM17196 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013816	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139501	\N	\N	EFO	3	EFO	material entity	GM17196 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013816	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022555	\N	\N	EFO	4	EFO	experimental factor	GM17196 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013818	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013818	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63598	\N	\N	EFO	0	EFO	GM17197 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17197 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013818	\N	"" []	CLO:0013818	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203822	\N	\N	EFO	1	EFO	B cell derived cell line	GM17197 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013818	\N	"" []	CLO:0013818	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203823	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17197 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013818	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556853	\N	\N	EFO	2	EFO	cell line	GM17197 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013818	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556854	\N	\N	EFO	2	EFO	cell line	GM17197 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013818	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139502	\N	\N	EFO	3	EFO	material entity	GM17197 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013818	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022556	\N	\N	EFO	4	EFO	experimental factor	GM17197 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013823	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013823	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63599	\N	\N	EFO	0	EFO	GM17198 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17198 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013823	\N	"" []	CLO:0013823	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203824	\N	\N	EFO	1	EFO	B cell derived cell line	GM17198 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013823	\N	"" []	CLO:0013823	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203825	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17198 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013823	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556855	\N	\N	EFO	2	EFO	cell line	GM17198 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013823	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556856	\N	\N	EFO	2	EFO	cell line	GM17198 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013823	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139503	\N	\N	EFO	3	EFO	material entity	GM17198 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013823	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022557	\N	\N	EFO	4	EFO	experimental factor	GM17198 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013826	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013826	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63600	\N	\N	EFO	0	EFO	GM17199 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17199 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013826	\N	"" []	CLO:0013826	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203826	\N	\N	EFO	1	EFO	B cell derived cell line	GM17199 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013826	\N	"" []	CLO:0013826	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203827	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17199 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013826	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556857	\N	\N	EFO	2	EFO	cell line	GM17199 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013826	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556858	\N	\N	EFO	2	EFO	cell line	GM17199 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013826	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139504	\N	\N	EFO	3	EFO	material entity	GM17199 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013826	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022558	\N	\N	EFO	4	EFO	experimental factor	GM17199 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013833	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013833	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63601	\N	\N	EFO	0	EFO	GM17206 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17206 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013833	\N	"" []	CLO:0013833	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203828	\N	\N	EFO	1	EFO	B cell derived cell line	GM17206 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013833	\N	"" []	CLO:0013833	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203829	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17206 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013833	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556859	\N	\N	EFO	2	EFO	cell line	GM17206 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013833	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556860	\N	\N	EFO	2	EFO	cell line	GM17206 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013833	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139505	\N	\N	EFO	3	EFO	material entity	GM17206 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013833	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022559	\N	\N	EFO	4	EFO	experimental factor	GM17206 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013834	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0013834	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63602	\N	\N	EFO	0	EFO	GM17205 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17205 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013834	\N	"" []	CLO:0013834	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203830	\N	\N	EFO	1	EFO	B cell derived cell line	GM17205 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013834	\N	"" []	CLO:0013834	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203831	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17205 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013834	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556861	\N	\N	EFO	2	EFO	cell line	GM17205 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013834	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556862	\N	\N	EFO	2	EFO	cell line	GM17205 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013834	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139506	\N	\N	EFO	3	EFO	material entity	GM17205 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013834	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022560	\N	\N	EFO	4	EFO	experimental factor	GM17205 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013835	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0013835	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63603	\N	\N	EFO	0	EFO	GM17204 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17204 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013835	\N	"" []	CLO:0013835	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203832	\N	\N	EFO	1	EFO	B cell derived cell line	GM17204 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013835	\N	"" []	CLO:0013835	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203833	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17204 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013835	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556863	\N	\N	EFO	2	EFO	cell line	GM17204 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013835	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556864	\N	\N	EFO	2	EFO	cell line	GM17204 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013835	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139507	\N	\N	EFO	3	EFO	material entity	GM17204 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013835	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022561	\N	\N	EFO	4	EFO	experimental factor	GM17204 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013836	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013836	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63604	\N	\N	EFO	0	EFO	GM17203 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17203 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013836	\N	"" []	CLO:0013836	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203834	\N	\N	EFO	1	EFO	B cell derived cell line	GM17203 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013836	\N	"" []	CLO:0013836	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203835	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17203 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013836	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556865	\N	\N	EFO	2	EFO	cell line	GM17203 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013836	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556866	\N	\N	EFO	2	EFO	cell line	GM17203 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013836	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139508	\N	\N	EFO	3	EFO	material entity	GM17203 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013836	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022562	\N	\N	EFO	4	EFO	experimental factor	GM17203 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013837	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013837	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63605	\N	\N	EFO	0	EFO	GM17202 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17202 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013837	\N	"" []	CLO:0013837	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203836	\N	\N	EFO	1	EFO	B cell derived cell line	GM17202 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013837	\N	"" []	CLO:0013837	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203837	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17202 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013837	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556867	\N	\N	EFO	2	EFO	cell line	GM17202 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013837	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556868	\N	\N	EFO	2	EFO	cell line	GM17202 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013837	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139509	\N	\N	EFO	3	EFO	material entity	GM17202 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013837	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022563	\N	\N	EFO	4	EFO	experimental factor	GM17202 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013839	\N	\N	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0013839	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63606	\N	\N	EFO	0	EFO	GM17201 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17201 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013839	\N	"" []	CLO:0013839	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203838	\N	\N	EFO	1	EFO	B cell derived cell line	GM17201 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013839	\N	"" []	CLO:0013839	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203839	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17201 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013839	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556869	\N	\N	EFO	2	EFO	cell line	GM17201 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013839	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556870	\N	\N	EFO	2	EFO	cell line	GM17201 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013839	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139510	\N	\N	EFO	3	EFO	material entity	GM17201 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013839	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022564	\N	\N	EFO	4	EFO	experimental factor	GM17201 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013840	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013840	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63607	\N	\N	EFO	0	EFO	GM17200 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17200 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013840	\N	"" []	CLO:0013840	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203840	\N	\N	EFO	1	EFO	B cell derived cell line	GM17200 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013840	\N	"" []	CLO:0013840	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203841	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17200 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013840	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556871	\N	\N	EFO	2	EFO	cell line	GM17200 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013840	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556872	\N	\N	EFO	2	EFO	cell line	GM17200 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013840	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139511	\N	\N	EFO	3	EFO	material entity	GM17200 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013840	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022565	\N	\N	EFO	4	EFO	experimental factor	GM17200 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013875	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0013875	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63608	\N	\N	EFO	0	EFO	GM17209 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17209 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013875	\N	"" []	CLO:0013875	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203842	\N	\N	EFO	1	EFO	B cell derived cell line	GM17209 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013875	\N	"" []	CLO:0013875	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203843	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17209 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013875	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556873	\N	\N	EFO	2	EFO	cell line	GM17209 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013875	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556874	\N	\N	EFO	2	EFO	cell line	GM17209 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013875	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139512	\N	\N	EFO	3	EFO	material entity	GM17209 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013875	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022566	\N	\N	EFO	4	EFO	experimental factor	GM17209 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013881	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013881	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63609	\N	\N	EFO	0	EFO	GM17207 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17207 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013881	\N	"" []	CLO:0013881	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203844	\N	\N	EFO	1	EFO	B cell derived cell line	GM17207 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013881	\N	"" []	CLO:0013881	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203845	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17207 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013881	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556875	\N	\N	EFO	2	EFO	cell line	GM17207 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013881	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556876	\N	\N	EFO	2	EFO	cell line	GM17207 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013881	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139513	\N	\N	EFO	3	EFO	material entity	GM17207 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013881	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022567	\N	\N	EFO	4	EFO	experimental factor	GM17207 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013884	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0013884	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63610	\N	\N	EFO	0	EFO	GM17208 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17208 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013884	\N	"" []	CLO:0013884	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203846	\N	\N	EFO	1	EFO	B cell derived cell line	GM17208 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013884	\N	"" []	CLO:0013884	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203847	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17208 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013884	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556877	\N	\N	EFO	2	EFO	cell line	GM17208 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013884	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556878	\N	\N	EFO	2	EFO	cell line	GM17208 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013884	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139514	\N	\N	EFO	3	EFO	material entity	GM17208 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013884	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022568	\N	\N	EFO	4	EFO	experimental factor	GM17208 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013885	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013885	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63611	\N	\N	EFO	0	EFO	GM17215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013885	\N	"" []	CLO:0013885	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203848	\N	\N	EFO	1	EFO	B cell derived cell line	GM17215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013885	\N	"" []	CLO:0013885	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203849	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013885	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556879	\N	\N	EFO	2	EFO	cell line	GM17215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013885	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556880	\N	\N	EFO	2	EFO	cell line	GM17215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013885	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139515	\N	\N	EFO	3	EFO	material entity	GM17215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013885	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022569	\N	\N	EFO	4	EFO	experimental factor	GM17215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013886	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013886	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63612	\N	\N	EFO	0	EFO	GM17214 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17214 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013886	\N	"" []	CLO:0013886	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203850	\N	\N	EFO	1	EFO	B cell derived cell line	GM17214 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013886	\N	"" []	CLO:0013886	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203851	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17214 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013886	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556881	\N	\N	EFO	2	EFO	cell line	GM17214 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013886	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556882	\N	\N	EFO	2	EFO	cell line	GM17214 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013886	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139516	\N	\N	EFO	3	EFO	material entity	GM17214 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013886	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022570	\N	\N	EFO	4	EFO	experimental factor	GM17214 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013887	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0013887	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63613	\N	\N	EFO	0	EFO	GM17217 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17217 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013887	\N	"" []	CLO:0013887	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203852	\N	\N	EFO	1	EFO	B cell derived cell line	GM17217 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013887	\N	"" []	CLO:0013887	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203853	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17217 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013887	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556883	\N	\N	EFO	2	EFO	cell line	GM17217 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013887	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556884	\N	\N	EFO	2	EFO	cell line	GM17217 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013887	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139517	\N	\N	EFO	3	EFO	material entity	GM17217 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013887	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022571	\N	\N	EFO	4	EFO	experimental factor	GM17217 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013888	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0013888	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63614	\N	\N	EFO	0	EFO	GM17216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013888	\N	"" []	CLO:0013888	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203854	\N	\N	EFO	1	EFO	B cell derived cell line	GM17216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013888	\N	"" []	CLO:0013888	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203855	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013888	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556885	\N	\N	EFO	2	EFO	cell line	GM17216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013888	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556886	\N	\N	EFO	2	EFO	cell line	GM17216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013888	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139518	\N	\N	EFO	3	EFO	material entity	GM17216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013888	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022572	\N	\N	EFO	4	EFO	experimental factor	GM17216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013890	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013890	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63615	\N	\N	EFO	0	EFO	GM17211 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17211 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013890	\N	"" []	CLO:0013890	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203856	\N	\N	EFO	1	EFO	B cell derived cell line	GM17211 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013890	\N	"" []	CLO:0013890	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203857	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17211 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013890	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556887	\N	\N	EFO	2	EFO	cell line	GM17211 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013890	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556888	\N	\N	EFO	2	EFO	cell line	GM17211 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013890	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139519	\N	\N	EFO	3	EFO	material entity	GM17211 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013890	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022573	\N	\N	EFO	4	EFO	experimental factor	GM17211 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013891	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013891	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63616	\N	\N	EFO	0	EFO	GM17210 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17210 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013891	\N	"" []	CLO:0013891	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203858	\N	\N	EFO	1	EFO	B cell derived cell line	GM17210 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013891	\N	"" []	CLO:0013891	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203859	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17210 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013891	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556889	\N	\N	EFO	2	EFO	cell line	GM17210 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013891	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556890	\N	\N	EFO	2	EFO	cell line	GM17210 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013891	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139520	\N	\N	EFO	3	EFO	material entity	GM17210 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013891	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022574	\N	\N	EFO	4	EFO	experimental factor	GM17210 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013893	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0013893	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63617	\N	\N	EFO	0	EFO	GM17213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013893	\N	"" []	CLO:0013893	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203860	\N	\N	EFO	1	EFO	B cell derived cell line	GM17213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013893	\N	"" []	CLO:0013893	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203861	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013893	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556891	\N	\N	EFO	2	EFO	cell line	GM17213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013893	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556892	\N	\N	EFO	2	EFO	cell line	GM17213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013893	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139521	\N	\N	EFO	3	EFO	material entity	GM17213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013893	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022575	\N	\N	EFO	4	EFO	experimental factor	GM17213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013895	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0013895	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63618	\N	\N	EFO	0	EFO	GM17212 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17212 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013895	\N	"" []	CLO:0013895	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203862	\N	\N	EFO	1	EFO	B cell derived cell line	GM17212 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013895	\N	"" []	CLO:0013895	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203863	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17212 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013895	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556893	\N	\N	EFO	2	EFO	cell line	GM17212 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013895	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556894	\N	\N	EFO	2	EFO	cell line	GM17212 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013895	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139522	\N	\N	EFO	3	EFO	material entity	GM17212 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013895	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022576	\N	\N	EFO	4	EFO	experimental factor	GM17212 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013921	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013921	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63619	\N	\N	EFO	0	EFO	GM17218 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17218 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013921	\N	"" []	CLO:0013921	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203864	\N	\N	EFO	1	EFO	B cell derived cell line	GM17218 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013921	\N	"" []	CLO:0013921	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203865	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17218 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013921	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556895	\N	\N	EFO	2	EFO	cell line	GM17218 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013921	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556896	\N	\N	EFO	2	EFO	cell line	GM17218 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013921	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139523	\N	\N	EFO	3	EFO	material entity	GM17218 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013921	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022577	\N	\N	EFO	4	EFO	experimental factor	GM17218 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013924	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0013924	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63620	\N	\N	EFO	0	EFO	GM17219 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17219 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013924	\N	"" []	CLO:0013924	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203866	\N	\N	EFO	1	EFO	B cell derived cell line	GM17219 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013924	\N	"" []	CLO:0013924	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203867	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17219 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013924	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556897	\N	\N	EFO	2	EFO	cell line	GM17219 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013924	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556898	\N	\N	EFO	2	EFO	cell line	GM17219 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013924	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139524	\N	\N	EFO	3	EFO	material entity	GM17219 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013924	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022578	\N	\N	EFO	4	EFO	experimental factor	GM17219 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013935	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	CLO:0013935	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	63621	\N	\N	EFO	0	EFO	GM17140 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17140 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013935	\N	"" []	CLO:0013935	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	203868	\N	\N	EFO	1	EFO	B cell derived cell line	GM17140 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013935	\N	"" []	CLO:0013935	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	203869	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17140 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013935	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	556899	\N	\N	EFO	2	EFO	cell line	GM17140 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013935	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	556900	\N	\N	EFO	2	EFO	cell line	GM17140 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013935	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	1139525	\N	\N	EFO	3	EFO	material entity	GM17140 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013935	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	2022579	\N	\N	EFO	4	EFO	experimental factor	GM17140 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013936	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013936	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63622	\N	\N	EFO	0	EFO	GM17144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013936	\N	"" []	CLO:0013936	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203870	\N	\N	EFO	1	EFO	B cell derived cell line	GM17144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013936	\N	"" []	CLO:0013936	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203871	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013936	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556901	\N	\N	EFO	2	EFO	cell line	GM17144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013936	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556902	\N	\N	EFO	2	EFO	cell line	GM17144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013936	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139526	\N	\N	EFO	3	EFO	material entity	GM17144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013936	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022580	\N	\N	EFO	4	EFO	experimental factor	GM17144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013937	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013937	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63623	\N	\N	EFO	0	EFO	GM17143 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17143 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013937	\N	"" []	CLO:0013937	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203872	\N	\N	EFO	1	EFO	B cell derived cell line	GM17143 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013937	\N	"" []	CLO:0013937	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203873	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17143 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013937	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556903	\N	\N	EFO	2	EFO	cell line	GM17143 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013937	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556904	\N	\N	EFO	2	EFO	cell line	GM17143 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013937	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139527	\N	\N	EFO	3	EFO	material entity	GM17143 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013937	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022581	\N	\N	EFO	4	EFO	experimental factor	GM17143 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013938	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013938	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63624	\N	\N	EFO	0	EFO	GM17142 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17142 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013938	\N	"" []	CLO:0013938	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203874	\N	\N	EFO	1	EFO	B cell derived cell line	GM17142 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013938	\N	"" []	CLO:0013938	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203875	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17142 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013938	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556905	\N	\N	EFO	2	EFO	cell line	GM17142 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013938	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556906	\N	\N	EFO	2	EFO	cell line	GM17142 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013938	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139528	\N	\N	EFO	3	EFO	material entity	GM17142 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013938	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022582	\N	\N	EFO	4	EFO	experimental factor	GM17142 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013939	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013939	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63625	\N	\N	EFO	0	EFO	GM17141 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17141 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013939	\N	"" []	CLO:0013939	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203876	\N	\N	EFO	1	EFO	B cell derived cell line	GM17141 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013939	\N	"" []	CLO:0013939	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203877	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17141 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013939	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556907	\N	\N	EFO	2	EFO	cell line	GM17141 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013939	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556908	\N	\N	EFO	2	EFO	cell line	GM17141 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013939	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139529	\N	\N	EFO	3	EFO	material entity	GM17141 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013939	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022583	\N	\N	EFO	4	EFO	experimental factor	GM17141 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013940	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	CLO:0013940	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	63626	\N	\N	EFO	0	EFO	GM17148 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17148 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013940	\N	"" []	CLO:0013940	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	203878	\N	\N	EFO	1	EFO	B cell derived cell line	GM17148 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013940	\N	"" []	CLO:0013940	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	203879	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17148 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013940	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	556909	\N	\N	EFO	2	EFO	cell line	GM17148 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013940	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	556910	\N	\N	EFO	2	EFO	cell line	GM17148 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013940	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	1139530	\N	\N	EFO	3	EFO	material entity	GM17148 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013940	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	2022584	\N	\N	EFO	4	EFO	experimental factor	GM17148 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013941	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	CLO:0013941	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	63627	\N	\N	EFO	0	EFO	GM17147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013941	\N	"" []	CLO:0013941	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	203880	\N	\N	EFO	1	EFO	B cell derived cell line	GM17147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013941	\N	"" []	CLO:0013941	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	203881	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013941	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	556911	\N	\N	EFO	2	EFO	cell line	GM17147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013941	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	556912	\N	\N	EFO	2	EFO	cell line	GM17147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013941	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	1139531	\N	\N	EFO	3	EFO	material entity	GM17147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013941	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	2022585	\N	\N	EFO	4	EFO	experimental factor	GM17147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013942	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	CLO:0013942	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	63628	\N	\N	EFO	0	EFO	GM17146 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17146 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013942	\N	"" []	CLO:0013942	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	203882	\N	\N	EFO	1	EFO	B cell derived cell line	GM17146 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013942	\N	"" []	CLO:0013942	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	203883	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17146 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013942	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	556913	\N	\N	EFO	2	EFO	cell line	GM17146 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013942	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	556914	\N	\N	EFO	2	EFO	cell line	GM17146 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013942	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	1139532	\N	\N	EFO	3	EFO	material entity	GM17146 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013942	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	2022586	\N	\N	EFO	4	EFO	experimental factor	GM17146 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013943	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	CLO:0013943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	63629	\N	\N	EFO	0	EFO	GM17145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013943	\N	"" []	CLO:0013943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	203884	\N	\N	EFO	1	EFO	B cell derived cell line	GM17145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013943	\N	"" []	CLO:0013943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	203885	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	556915	\N	\N	EFO	2	EFO	cell line	GM17145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	556916	\N	\N	EFO	2	EFO	cell line	GM17145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	1139533	\N	\N	EFO	3	EFO	material entity	GM17145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	2022587	\N	\N	EFO	4	EFO	experimental factor	GM17145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013947	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63630	\N	\N	EFO	0	EFO	GM17149 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17149 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013947	\N	"" []	CLO:0013947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203886	\N	\N	EFO	1	EFO	B cell derived cell line	GM17149 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013947	\N	"" []	CLO:0013947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203887	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17149 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556917	\N	\N	EFO	2	EFO	cell line	GM17149 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556918	\N	\N	EFO	2	EFO	cell line	GM17149 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139534	\N	\N	EFO	3	EFO	material entity	GM17149 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022588	\N	\N	EFO	4	EFO	experimental factor	GM17149 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013956	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013956	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63631	\N	\N	EFO	0	EFO	GM17150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013956	\N	"" []	CLO:0013956	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203888	\N	\N	EFO	1	EFO	B cell derived cell line	GM17150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013956	\N	"" []	CLO:0013956	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203889	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013956	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556919	\N	\N	EFO	2	EFO	cell line	GM17150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013956	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556920	\N	\N	EFO	2	EFO	cell line	GM17150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013956	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139535	\N	\N	EFO	3	EFO	material entity	GM17150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013956	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022589	\N	\N	EFO	4	EFO	experimental factor	GM17150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013960	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013960	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63632	\N	\N	EFO	0	EFO	GM17155 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17155 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013960	\N	"" []	CLO:0013960	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203890	\N	\N	EFO	1	EFO	B cell derived cell line	GM17155 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013960	\N	"" []	CLO:0013960	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203891	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17155 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013960	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556921	\N	\N	EFO	2	EFO	cell line	GM17155 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013960	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556922	\N	\N	EFO	2	EFO	cell line	GM17155 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013960	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139536	\N	\N	EFO	3	EFO	material entity	GM17155 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013960	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022590	\N	\N	EFO	4	EFO	experimental factor	GM17155 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013961	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013961	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63633	\N	\N	EFO	0	EFO	GM17154 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17154 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013961	\N	"" []	CLO:0013961	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203892	\N	\N	EFO	1	EFO	B cell derived cell line	GM17154 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013961	\N	"" []	CLO:0013961	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203893	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17154 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013961	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556923	\N	\N	EFO	2	EFO	cell line	GM17154 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013961	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556924	\N	\N	EFO	2	EFO	cell line	GM17154 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013961	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139537	\N	\N	EFO	3	EFO	material entity	GM17154 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013961	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022591	\N	\N	EFO	4	EFO	experimental factor	GM17154 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013962	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013962	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63634	\N	\N	EFO	0	EFO	GM17157 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17157 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013962	\N	"" []	CLO:0013962	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203894	\N	\N	EFO	1	EFO	B cell derived cell line	GM17157 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013962	\N	"" []	CLO:0013962	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203895	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17157 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013962	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556925	\N	\N	EFO	2	EFO	cell line	GM17157 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013962	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556926	\N	\N	EFO	2	EFO	cell line	GM17157 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013962	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139538	\N	\N	EFO	3	EFO	material entity	GM17157 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013962	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022592	\N	\N	EFO	4	EFO	experimental factor	GM17157 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013963	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013963	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63635	\N	\N	EFO	0	EFO	GM17156 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17156 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013963	\N	"" []	CLO:0013963	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203896	\N	\N	EFO	1	EFO	B cell derived cell line	GM17156 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013963	\N	"" []	CLO:0013963	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203897	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17156 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013963	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556927	\N	\N	EFO	2	EFO	cell line	GM17156 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013963	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556928	\N	\N	EFO	2	EFO	cell line	GM17156 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013963	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139539	\N	\N	EFO	3	EFO	material entity	GM17156 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013963	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022593	\N	\N	EFO	4	EFO	experimental factor	GM17156 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013964	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63636	\N	\N	EFO	0	EFO	GM17159 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17159 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013964	\N	"" []	CLO:0013964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203898	\N	\N	EFO	1	EFO	B cell derived cell line	GM17159 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013964	\N	"" []	CLO:0013964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203899	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17159 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556929	\N	\N	EFO	2	EFO	cell line	GM17159 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556930	\N	\N	EFO	2	EFO	cell line	GM17159 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139540	\N	\N	EFO	3	EFO	material entity	GM17159 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022594	\N	\N	EFO	4	EFO	experimental factor	GM17159 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013965	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 SNP500 PANEL" []	CLO:0013965	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 SNP500 PANEL" []	63637	\N	\N	EFO	0	EFO	GM17158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013965	\N	"" []	CLO:0013965	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 SNP500 PANEL" []	203900	\N	\N	EFO	1	EFO	B cell derived cell line	GM17158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013965	\N	"" []	CLO:0013965	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 SNP500 PANEL" []	203901	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013965	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 SNP500 PANEL" []	556931	\N	\N	EFO	2	EFO	cell line	GM17158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013965	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 SNP500 PANEL" []	556932	\N	\N	EFO	2	EFO	cell line	GM17158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013965	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 SNP500 PANEL" []	1139541	\N	\N	EFO	3	EFO	material entity	GM17158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013965	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 SNP500 PANEL" []	2022595	\N	\N	EFO	4	EFO	experimental factor	GM17158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013982	\N	\N	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013982	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63638	\N	\N	EFO	0	EFO	GM17161 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17161 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013982	\N	"" []	CLO:0013982	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203902	\N	\N	EFO	1	EFO	B cell derived cell line	GM17161 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013982	\N	"" []	CLO:0013982	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203903	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17161 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013982	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556933	\N	\N	EFO	2	EFO	cell line	GM17161 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013982	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556934	\N	\N	EFO	2	EFO	cell line	GM17161 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013982	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139542	\N	\N	EFO	3	EFO	material entity	GM17161 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013982	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022596	\N	\N	EFO	4	EFO	experimental factor	GM17161 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013983	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013983	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63639	\N	\N	EFO	0	EFO	GM17162 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17162 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013983	\N	"" []	CLO:0013983	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203904	\N	\N	EFO	1	EFO	B cell derived cell line	GM17162 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013983	\N	"" []	CLO:0013983	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203905	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17162 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013983	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556935	\N	\N	EFO	2	EFO	cell line	GM17162 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013983	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556936	\N	\N	EFO	2	EFO	cell line	GM17162 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013983	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139543	\N	\N	EFO	3	EFO	material entity	GM17162 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013983	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022597	\N	\N	EFO	4	EFO	experimental factor	GM17162 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013984	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013984	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63640	\N	\N	EFO	0	EFO	GM17160 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17160 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013984	\N	"" []	CLO:0013984	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203906	\N	\N	EFO	1	EFO	B cell derived cell line	GM17160 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013984	\N	"" []	CLO:0013984	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203907	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17160 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013984	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556937	\N	\N	EFO	2	EFO	cell line	GM17160 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013984	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556938	\N	\N	EFO	2	EFO	cell line	GM17160 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013984	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139544	\N	\N	EFO	3	EFO	material entity	GM17160 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013984	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022598	\N	\N	EFO	4	EFO	experimental factor	GM17160 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013987	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013987	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63641	\N	\N	EFO	0	EFO	GM17168 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17168 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013987	\N	"" []	CLO:0013987	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203908	\N	\N	EFO	1	EFO	B cell derived cell line	GM17168 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013987	\N	"" []	CLO:0013987	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203909	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17168 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013987	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556939	\N	\N	EFO	2	EFO	cell line	GM17168 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013987	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556940	\N	\N	EFO	2	EFO	cell line	GM17168 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013987	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139545	\N	\N	EFO	3	EFO	material entity	GM17168 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013987	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022599	\N	\N	EFO	4	EFO	experimental factor	GM17168 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013989	\N	\N	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013989	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63642	\N	\N	EFO	0	EFO	GM17167 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17167 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013989	\N	"" []	CLO:0013989	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203910	\N	\N	EFO	1	EFO	B cell derived cell line	GM17167 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013989	\N	"" []	CLO:0013989	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203911	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17167 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013989	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556941	\N	\N	EFO	2	EFO	cell line	GM17167 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013989	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556942	\N	\N	EFO	2	EFO	cell line	GM17167 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013989	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139546	\N	\N	EFO	3	EFO	material entity	GM17167 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013989	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022600	\N	\N	EFO	4	EFO	experimental factor	GM17167 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013990	\N	\N	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013990	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63643	\N	\N	EFO	0	EFO	GM17166 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17166 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013990	\N	"" []	CLO:0013990	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203912	\N	\N	EFO	1	EFO	B cell derived cell line	GM17166 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013990	\N	"" []	CLO:0013990	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203913	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17166 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013990	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556943	\N	\N	EFO	2	EFO	cell line	GM17166 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013990	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556944	\N	\N	EFO	2	EFO	cell line	GM17166 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013990	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139547	\N	\N	EFO	3	EFO	material entity	GM17166 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013990	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022601	\N	\N	EFO	4	EFO	experimental factor	GM17166 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013993	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013993	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63644	\N	\N	EFO	0	EFO	GM17165 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17165 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013993	\N	"" []	CLO:0013993	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203914	\N	\N	EFO	1	EFO	B cell derived cell line	GM17165 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013993	\N	"" []	CLO:0013993	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203915	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17165 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013993	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556945	\N	\N	EFO	2	EFO	cell line	GM17165 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013993	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556946	\N	\N	EFO	2	EFO	cell line	GM17165 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013993	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139548	\N	\N	EFO	3	EFO	material entity	GM17165 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013993	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022602	\N	\N	EFO	4	EFO	experimental factor	GM17165 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013994	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013994	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63645	\N	\N	EFO	0	EFO	GM17164 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17164 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013994	\N	"" []	CLO:0013994	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203916	\N	\N	EFO	1	EFO	B cell derived cell line	GM17164 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013994	\N	"" []	CLO:0013994	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203917	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17164 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013994	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556947	\N	\N	EFO	2	EFO	cell line	GM17164 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013994	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556948	\N	\N	EFO	2	EFO	cell line	GM17164 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013994	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139549	\N	\N	EFO	3	EFO	material entity	GM17164 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013994	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022603	\N	\N	EFO	4	EFO	experimental factor	GM17164 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0013996	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0013996	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63646	\N	\N	EFO	0	EFO	GM17163 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17163 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0013996	\N	"" []	CLO:0013996	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203918	\N	\N	EFO	1	EFO	B cell derived cell line	GM17163 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0013996	\N	"" []	CLO:0013996	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203919	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17163 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013996	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556949	\N	\N	EFO	2	EFO	cell line	GM17163 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0013996	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556950	\N	\N	EFO	2	EFO	cell line	GM17163 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0013996	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139550	\N	\N	EFO	3	EFO	material entity	GM17163 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0013996	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022604	\N	\N	EFO	4	EFO	experimental factor	GM17163 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014022	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014022	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63647	\N	\N	EFO	0	EFO	GM17170 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17170 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014022	\N	"" []	CLO:0014022	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203920	\N	\N	EFO	1	EFO	B cell derived cell line	GM17170 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014022	\N	"" []	CLO:0014022	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203921	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17170 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014022	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556951	\N	\N	EFO	2	EFO	cell line	GM17170 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014022	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556952	\N	\N	EFO	2	EFO	cell line	GM17170 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014022	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139551	\N	\N	EFO	3	EFO	material entity	GM17170 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014022	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022605	\N	\N	EFO	4	EFO	experimental factor	GM17170 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014024	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014024	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63648	\N	\N	EFO	0	EFO	GM17171 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17171 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014024	\N	"" []	CLO:0014024	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203922	\N	\N	EFO	1	EFO	B cell derived cell line	GM17171 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014024	\N	"" []	CLO:0014024	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203923	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17171 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014024	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556953	\N	\N	EFO	2	EFO	cell line	GM17171 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014024	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556954	\N	\N	EFO	2	EFO	cell line	GM17171 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014024	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139552	\N	\N	EFO	3	EFO	material entity	GM17171 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014024	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022606	\N	\N	EFO	4	EFO	experimental factor	GM17171 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014025	\N	\N	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014025	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63649	\N	\N	EFO	0	EFO	GM17172 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17172 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014025	\N	"" []	CLO:0014025	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203924	\N	\N	EFO	1	EFO	B cell derived cell line	GM17172 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014025	\N	"" []	CLO:0014025	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203925	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17172 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014025	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556955	\N	\N	EFO	2	EFO	cell line	GM17172 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014025	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556956	\N	\N	EFO	2	EFO	cell line	GM17172 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014025	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139553	\N	\N	EFO	3	EFO	material entity	GM17172 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014025	"SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022607	\N	\N	EFO	4	EFO	experimental factor	GM17172 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014026	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014026	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63650	\N	\N	EFO	0	EFO	GM17173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014026	\N	"" []	CLO:0014026	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203926	\N	\N	EFO	1	EFO	B cell derived cell line	GM17173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014026	\N	"" []	CLO:0014026	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203927	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014026	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556957	\N	\N	EFO	2	EFO	cell line	GM17173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014026	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556958	\N	\N	EFO	2	EFO	cell line	GM17173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014026	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139554	\N	\N	EFO	3	EFO	material entity	GM17173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014026	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022608	\N	\N	EFO	4	EFO	experimental factor	GM17173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014028	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014028	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63651	\N	\N	EFO	0	EFO	GM17179 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17179 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014028	\N	"" []	CLO:0014028	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203928	\N	\N	EFO	1	EFO	B cell derived cell line	GM17179 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014028	\N	"" []	CLO:0014028	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203929	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17179 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014028	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556959	\N	\N	EFO	2	EFO	cell line	GM17179 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014028	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556960	\N	\N	EFO	2	EFO	cell line	GM17179 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014028	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139555	\N	\N	EFO	3	EFO	material entity	GM17179 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014028	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022609	\N	\N	EFO	4	EFO	experimental factor	GM17179 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014029	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014029	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63652	\N	\N	EFO	0	EFO	GM17178 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17178 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014029	\N	"" []	CLO:0014029	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203930	\N	\N	EFO	1	EFO	B cell derived cell line	GM17178 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014029	\N	"" []	CLO:0014029	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203931	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17178 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014029	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556961	\N	\N	EFO	2	EFO	cell line	GM17178 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014029	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556962	\N	\N	EFO	2	EFO	cell line	GM17178 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014029	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139556	\N	\N	EFO	3	EFO	material entity	GM17178 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014029	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022610	\N	\N	EFO	4	EFO	experimental factor	GM17178 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014033	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014033	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63653	\N	\N	EFO	0	EFO	GM17175 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17175 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014033	\N	"" []	CLO:0014033	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203932	\N	\N	EFO	1	EFO	B cell derived cell line	GM17175 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014033	\N	"" []	CLO:0014033	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203933	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17175 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014033	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556963	\N	\N	EFO	2	EFO	cell line	GM17175 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014033	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556964	\N	\N	EFO	2	EFO	cell line	GM17175 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014033	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139557	\N	\N	EFO	3	EFO	material entity	GM17175 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014033	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022611	\N	\N	EFO	4	EFO	experimental factor	GM17175 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014034	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014034	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63654	\N	\N	EFO	0	EFO	GM17174 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17174 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014034	\N	"" []	CLO:0014034	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203934	\N	\N	EFO	1	EFO	B cell derived cell line	GM17174 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014034	\N	"" []	CLO:0014034	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203935	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17174 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014034	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556965	\N	\N	EFO	2	EFO	cell line	GM17174 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014034	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556966	\N	\N	EFO	2	EFO	cell line	GM17174 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014034	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139558	\N	\N	EFO	3	EFO	material entity	GM17174 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014034	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022612	\N	\N	EFO	4	EFO	experimental factor	GM17174 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014037	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014037	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63655	\N	\N	EFO	0	EFO	GM17177 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17177 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014037	\N	"" []	CLO:0014037	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203936	\N	\N	EFO	1	EFO	B cell derived cell line	GM17177 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014037	\N	"" []	CLO:0014037	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203937	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17177 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014037	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556967	\N	\N	EFO	2	EFO	cell line	GM17177 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014037	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556968	\N	\N	EFO	2	EFO	cell line	GM17177 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014037	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139559	\N	\N	EFO	3	EFO	material entity	GM17177 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014037	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022613	\N	\N	EFO	4	EFO	experimental factor	GM17177 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014039	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014039	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63656	\N	\N	EFO	0	EFO	GM17176 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17176 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014039	\N	"" []	CLO:0014039	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203938	\N	\N	EFO	1	EFO	B cell derived cell line	GM17176 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014039	\N	"" []	CLO:0014039	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	203939	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17176 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014039	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556969	\N	\N	EFO	2	EFO	cell line	GM17176 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014039	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	556970	\N	\N	EFO	2	EFO	cell line	GM17176 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014039	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139560	\N	\N	EFO	3	EFO	material entity	GM17176 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014039	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022614	\N	\N	EFO	4	EFO	experimental factor	GM17176 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014327	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014327	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63657	\N	\N	EFO	0	EFO	GM17239 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17239 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014327	\N	"" []	CLO:0014327	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203940	\N	\N	EFO	1	EFO	B cell derived cell line	GM17239 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014327	\N	"" []	CLO:0014327	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203941	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17239 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014327	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556971	\N	\N	EFO	2	EFO	cell line	GM17239 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014327	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556972	\N	\N	EFO	2	EFO	cell line	GM17239 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014327	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139561	\N	\N	EFO	3	EFO	material entity	GM17239 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014327	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022615	\N	\N	EFO	4	EFO	experimental factor	GM17239 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014330	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014330	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63658	\N	\N	EFO	0	EFO	GM17237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014330	\N	"" []	CLO:0014330	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203942	\N	\N	EFO	1	EFO	B cell derived cell line	GM17237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014330	\N	"" []	CLO:0014330	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203943	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014330	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556973	\N	\N	EFO	2	EFO	cell line	GM17237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014330	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556974	\N	\N	EFO	2	EFO	cell line	GM17237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014330	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139562	\N	\N	EFO	3	EFO	material entity	GM17237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014330	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022616	\N	\N	EFO	4	EFO	experimental factor	GM17237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014332	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014332	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63659	\N	\N	EFO	0	EFO	GM17238 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17238 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014332	\N	"" []	CLO:0014332	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203944	\N	\N	EFO	1	EFO	B cell derived cell line	GM17238 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014332	\N	"" []	CLO:0014332	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203945	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17238 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014332	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556975	\N	\N	EFO	2	EFO	cell line	GM17238 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014332	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556976	\N	\N	EFO	2	EFO	cell line	GM17238 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014332	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139563	\N	\N	EFO	3	EFO	material entity	GM17238 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014332	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022617	\N	\N	EFO	4	EFO	experimental factor	GM17238 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014334	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014334	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63660	\N	\N	EFO	0	EFO	GM17235 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17235 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014334	\N	"" []	CLO:0014334	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203946	\N	\N	EFO	1	EFO	B cell derived cell line	GM17235 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014334	\N	"" []	CLO:0014334	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203947	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17235 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014334	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556977	\N	\N	EFO	2	EFO	cell line	GM17235 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014334	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556978	\N	\N	EFO	2	EFO	cell line	GM17235 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014334	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139564	\N	\N	EFO	3	EFO	material entity	GM17235 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014334	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022618	\N	\N	EFO	4	EFO	experimental factor	GM17235 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014336	\N	\N	"CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014336	"CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63661	\N	\N	EFO	0	EFO	GM17236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014336	\N	"" []	CLO:0014336	"CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203948	\N	\N	EFO	1	EFO	B cell derived cell line	GM17236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014336	\N	"" []	CLO:0014336	"CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203949	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014336	"CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556979	\N	\N	EFO	2	EFO	cell line	GM17236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014336	"CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556980	\N	\N	EFO	2	EFO	cell line	GM17236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014336	"CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139565	\N	\N	EFO	3	EFO	material entity	GM17236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014336	"CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022619	\N	\N	EFO	4	EFO	experimental factor	GM17236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014338	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014338	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63662	\N	\N	EFO	0	EFO	GM17233 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17233 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014338	\N	"" []	CLO:0014338	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203950	\N	\N	EFO	1	EFO	B cell derived cell line	GM17233 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014338	\N	"" []	CLO:0014338	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203951	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17233 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014338	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556981	\N	\N	EFO	2	EFO	cell line	GM17233 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014338	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556982	\N	\N	EFO	2	EFO	cell line	GM17233 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014338	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139566	\N	\N	EFO	3	EFO	material entity	GM17233 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014338	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022620	\N	\N	EFO	4	EFO	experimental factor	GM17233 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014340	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014340	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63663	\N	\N	EFO	0	EFO	GM17234 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17234 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014340	\N	"" []	CLO:0014340	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203952	\N	\N	EFO	1	EFO	B cell derived cell line	GM17234 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014340	\N	"" []	CLO:0014340	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203953	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17234 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014340	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556983	\N	\N	EFO	2	EFO	cell line	GM17234 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014340	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556984	\N	\N	EFO	2	EFO	cell line	GM17234 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014340	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139567	\N	\N	EFO	3	EFO	material entity	GM17234 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014340	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022621	\N	\N	EFO	4	EFO	experimental factor	GM17234 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014341	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014341	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63664	\N	\N	EFO	0	EFO	GM17231 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17231 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014341	\N	"" []	CLO:0014341	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203954	\N	\N	EFO	1	EFO	B cell derived cell line	GM17231 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014341	\N	"" []	CLO:0014341	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203955	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17231 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014341	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556985	\N	\N	EFO	2	EFO	cell line	GM17231 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014341	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556986	\N	\N	EFO	2	EFO	cell line	GM17231 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014341	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139568	\N	\N	EFO	3	EFO	material entity	GM17231 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014341	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022622	\N	\N	EFO	4	EFO	experimental factor	GM17231 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014344	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014344	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63665	\N	\N	EFO	0	EFO	GM17232 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17232 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014344	\N	"" []	CLO:0014344	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203956	\N	\N	EFO	1	EFO	B cell derived cell line	GM17232 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014344	\N	"" []	CLO:0014344	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203957	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17232 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014344	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556987	\N	\N	EFO	2	EFO	cell line	GM17232 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014344	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556988	\N	\N	EFO	2	EFO	cell line	GM17232 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014344	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139569	\N	\N	EFO	3	EFO	material entity	GM17232 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014344	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022623	\N	\N	EFO	4	EFO	experimental factor	GM17232 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014347	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014347	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63666	\N	\N	EFO	0	EFO	GM17230 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17230 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014347	\N	"" []	CLO:0014347	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203958	\N	\N	EFO	1	EFO	B cell derived cell line	GM17230 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014347	\N	"" []	CLO:0014347	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203959	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17230 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014347	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556989	\N	\N	EFO	2	EFO	cell line	GM17230 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014347	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556990	\N	\N	EFO	2	EFO	cell line	GM17230 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014347	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139570	\N	\N	EFO	3	EFO	material entity	GM17230 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014347	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022624	\N	\N	EFO	4	EFO	experimental factor	GM17230 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014356	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014356	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63667	\N	\N	EFO	0	EFO	GM17226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014356	\N	"" []	CLO:0014356	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203960	\N	\N	EFO	1	EFO	B cell derived cell line	GM17226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014356	\N	"" []	CLO:0014356	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203961	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014356	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556991	\N	\N	EFO	2	EFO	cell line	GM17226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014356	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556992	\N	\N	EFO	2	EFO	cell line	GM17226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014356	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139571	\N	\N	EFO	3	EFO	material entity	GM17226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014356	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022625	\N	\N	EFO	4	EFO	experimental factor	GM17226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014358	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014358	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63668	\N	\N	EFO	0	EFO	GM17227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014358	\N	"" []	CLO:0014358	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203962	\N	\N	EFO	1	EFO	B cell derived cell line	GM17227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014358	\N	"" []	CLO:0014358	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203963	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014358	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556993	\N	\N	EFO	2	EFO	cell line	GM17227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014358	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556994	\N	\N	EFO	2	EFO	cell line	GM17227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014358	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139572	\N	\N	EFO	3	EFO	material entity	GM17227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014358	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022626	\N	\N	EFO	4	EFO	experimental factor	GM17227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014359	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014359	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63669	\N	\N	EFO	0	EFO	GM17228 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17228 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014359	\N	"" []	CLO:0014359	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203964	\N	\N	EFO	1	EFO	B cell derived cell line	GM17228 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014359	\N	"" []	CLO:0014359	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203965	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17228 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014359	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556995	\N	\N	EFO	2	EFO	cell line	GM17228 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014359	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556996	\N	\N	EFO	2	EFO	cell line	GM17228 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014359	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139573	\N	\N	EFO	3	EFO	material entity	GM17228 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014359	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022627	\N	\N	EFO	4	EFO	experimental factor	GM17228 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014362	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014362	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63670	\N	\N	EFO	0	EFO	GM17229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014362	\N	"" []	CLO:0014362	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203966	\N	\N	EFO	1	EFO	B cell derived cell line	GM17229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014362	\N	"" []	CLO:0014362	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203967	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014362	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556997	\N	\N	EFO	2	EFO	cell line	GM17229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014362	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	556998	\N	\N	EFO	2	EFO	cell line	GM17229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014362	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139574	\N	\N	EFO	3	EFO	material entity	GM17229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014362	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022628	\N	\N	EFO	4	EFO	experimental factor	GM17229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014366	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014366	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63671	\N	\N	EFO	0	EFO	GM17222 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17222 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014366	\N	"" []	CLO:0014366	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203968	\N	\N	EFO	1	EFO	B cell derived cell line	GM17222 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014366	\N	"" []	CLO:0014366	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203969	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17222 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014366	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	556999	\N	\N	EFO	2	EFO	cell line	GM17222 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014366	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557000	\N	\N	EFO	2	EFO	cell line	GM17222 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014366	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139575	\N	\N	EFO	3	EFO	material entity	GM17222 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014366	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022629	\N	\N	EFO	4	EFO	experimental factor	GM17222 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014367	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014367	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63672	\N	\N	EFO	0	EFO	GM17223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014367	\N	"" []	CLO:0014367	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203970	\N	\N	EFO	1	EFO	B cell derived cell line	GM17223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014367	\N	"" []	CLO:0014367	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203971	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014367	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557001	\N	\N	EFO	2	EFO	cell line	GM17223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014367	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557002	\N	\N	EFO	2	EFO	cell line	GM17223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014367	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139576	\N	\N	EFO	3	EFO	material entity	GM17223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014367	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022630	\N	\N	EFO	4	EFO	experimental factor	GM17223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014369	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014369	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63673	\N	\N	EFO	0	EFO	GM17224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014369	\N	"" []	CLO:0014369	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203972	\N	\N	EFO	1	EFO	B cell derived cell line	GM17224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014369	\N	"" []	CLO:0014369	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203973	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014369	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557003	\N	\N	EFO	2	EFO	cell line	GM17224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014369	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557004	\N	\N	EFO	2	EFO	cell line	GM17224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014369	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139577	\N	\N	EFO	3	EFO	material entity	GM17224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014369	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022631	\N	\N	EFO	4	EFO	experimental factor	GM17224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014371	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014371	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63674	\N	\N	EFO	0	EFO	GM17225 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17225 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014371	\N	"" []	CLO:0014371	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203974	\N	\N	EFO	1	EFO	B cell derived cell line	GM17225 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014371	\N	"" []	CLO:0014371	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203975	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17225 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014371	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557005	\N	\N	EFO	2	EFO	cell line	GM17225 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014371	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557006	\N	\N	EFO	2	EFO	cell line	GM17225 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014371	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139578	\N	\N	EFO	3	EFO	material entity	GM17225 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014371	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022632	\N	\N	EFO	4	EFO	experimental factor	GM17225 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014375	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014375	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63675	\N	\N	EFO	0	EFO	GM17220 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17220 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014375	\N	"" []	CLO:0014375	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203976	\N	\N	EFO	1	EFO	B cell derived cell line	GM17220 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014375	\N	"" []	CLO:0014375	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203977	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17220 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014375	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557007	\N	\N	EFO	2	EFO	cell line	GM17220 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014375	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557008	\N	\N	EFO	2	EFO	cell line	GM17220 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014375	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139579	\N	\N	EFO	3	EFO	material entity	GM17220 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014375	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022633	\N	\N	EFO	4	EFO	experimental factor	GM17220 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014377	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014377	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63676	\N	\N	EFO	0	EFO	GM17221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014377	\N	"" []	CLO:0014377	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203978	\N	\N	EFO	1	EFO	B cell derived cell line	GM17221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014377	\N	"" []	CLO:0014377	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	203979	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014377	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557009	\N	\N	EFO	2	EFO	cell line	GM17221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014377	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557010	\N	\N	EFO	2	EFO	cell line	GM17221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014377	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139580	\N	\N	EFO	3	EFO	material entity	GM17221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014377	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022634	\N	\N	EFO	4	EFO	experimental factor	GM17221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014388	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014388	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63677	\N	\N	EFO	0	EFO	GM17259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014388	\N	"" []	CLO:0014388	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203980	\N	\N	EFO	1	EFO	B cell derived cell line	GM17259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014388	\N	"" []	CLO:0014388	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203981	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014388	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557011	\N	\N	EFO	2	EFO	cell line	GM17259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014388	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557012	\N	\N	EFO	2	EFO	cell line	GM17259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014388	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139581	\N	\N	EFO	3	EFO	material entity	GM17259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014388	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022635	\N	\N	EFO	4	EFO	experimental factor	GM17259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014389	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014389	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63678	\N	\N	EFO	0	EFO	GM17253 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17253 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014389	\N	"" []	CLO:0014389	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203982	\N	\N	EFO	1	EFO	B cell derived cell line	GM17253 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014389	\N	"" []	CLO:0014389	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203983	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17253 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014389	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557013	\N	\N	EFO	2	EFO	cell line	GM17253 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014389	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557014	\N	\N	EFO	2	EFO	cell line	GM17253 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014389	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139582	\N	\N	EFO	3	EFO	material entity	GM17253 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014389	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022636	\N	\N	EFO	4	EFO	experimental factor	GM17253 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014390	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014390	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63679	\N	\N	EFO	0	EFO	GM17254 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17254 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014390	\N	"" []	CLO:0014390	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203984	\N	\N	EFO	1	EFO	B cell derived cell line	GM17254 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014390	\N	"" []	CLO:0014390	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203985	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17254 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014390	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557015	\N	\N	EFO	2	EFO	cell line	GM17254 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014390	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557016	\N	\N	EFO	2	EFO	cell line	GM17254 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014390	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139583	\N	\N	EFO	3	EFO	material entity	GM17254 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014390	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022637	\N	\N	EFO	4	EFO	experimental factor	GM17254 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014391	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	CLO:0014391	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	63680	\N	\N	EFO	0	EFO	GM17251 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17251 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014391	\N	"" []	CLO:0014391	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	203986	\N	\N	EFO	1	EFO	B cell derived cell line	GM17251 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014391	\N	"" []	CLO:0014391	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	203987	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17251 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014391	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	557017	\N	\N	EFO	2	EFO	cell line	GM17251 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014391	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	557018	\N	\N	EFO	2	EFO	cell line	GM17251 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014391	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	1139584	\N	\N	EFO	3	EFO	material entity	GM17251 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014391	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200" []	2022638	\N	\N	EFO	4	EFO	experimental factor	GM17251 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014392	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014392	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63681	\N	\N	EFO	0	EFO	GM17252 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17252 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014392	\N	"" []	CLO:0014392	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203988	\N	\N	EFO	1	EFO	B cell derived cell line	GM17252 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014392	\N	"" []	CLO:0014392	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203989	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17252 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014392	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557019	\N	\N	EFO	2	EFO	cell line	GM17252 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014392	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557020	\N	\N	EFO	2	EFO	cell line	GM17252 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014392	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139585	\N	\N	EFO	3	EFO	material entity	GM17252 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014392	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022639	\N	\N	EFO	4	EFO	experimental factor	GM17252 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014393	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014393	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63682	\N	\N	EFO	0	EFO	GM17257 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17257 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014393	\N	"" []	CLO:0014393	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203990	\N	\N	EFO	1	EFO	B cell derived cell line	GM17257 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014393	\N	"" []	CLO:0014393	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203991	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17257 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014393	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557021	\N	\N	EFO	2	EFO	cell line	GM17257 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014393	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557022	\N	\N	EFO	2	EFO	cell line	GM17257 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014393	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139586	\N	\N	EFO	3	EFO	material entity	GM17257 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014393	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022640	\N	\N	EFO	4	EFO	experimental factor	GM17257 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014394	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014394	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63683	\N	\N	EFO	0	EFO	GM17258 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17258 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014394	\N	"" []	CLO:0014394	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203992	\N	\N	EFO	1	EFO	B cell derived cell line	GM17258 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014394	\N	"" []	CLO:0014394	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203993	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17258 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014394	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557023	\N	\N	EFO	2	EFO	cell line	GM17258 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014394	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557024	\N	\N	EFO	2	EFO	cell line	GM17258 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014394	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139587	\N	\N	EFO	3	EFO	material entity	GM17258 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014394	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022641	\N	\N	EFO	4	EFO	experimental factor	GM17258 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014395	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014395	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63684	\N	\N	EFO	0	EFO	GM17255 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17255 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014395	\N	"" []	CLO:0014395	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203994	\N	\N	EFO	1	EFO	B cell derived cell line	GM17255 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014395	\N	"" []	CLO:0014395	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203995	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17255 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014395	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557025	\N	\N	EFO	2	EFO	cell line	GM17255 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014395	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557026	\N	\N	EFO	2	EFO	cell line	GM17255 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014395	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139588	\N	\N	EFO	3	EFO	material entity	GM17255 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014395	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022642	\N	\N	EFO	4	EFO	experimental factor	GM17255 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014396	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014396	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63685	\N	\N	EFO	0	EFO	GM17256 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17256 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014396	\N	"" []	CLO:0014396	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203996	\N	\N	EFO	1	EFO	B cell derived cell line	GM17256 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014396	\N	"" []	CLO:0014396	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203997	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17256 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014396	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557027	\N	\N	EFO	2	EFO	cell line	GM17256 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014396	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557028	\N	\N	EFO	2	EFO	cell line	GM17256 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014396	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139589	\N	\N	EFO	3	EFO	material entity	GM17256 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014396	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022643	\N	\N	EFO	4	EFO	experimental factor	GM17256 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014397	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014397	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63686	\N	\N	EFO	0	EFO	GM17250 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17250 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014397	\N	"" []	CLO:0014397	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203998	\N	\N	EFO	1	EFO	B cell derived cell line	GM17250 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014397	\N	"" []	CLO:0014397	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	203999	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17250 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014397	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557029	\N	\N	EFO	2	EFO	cell line	GM17250 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014397	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557030	\N	\N	EFO	2	EFO	cell line	GM17250 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014397	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139590	\N	\N	EFO	3	EFO	material entity	GM17250 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014397	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022644	\N	\N	EFO	4	EFO	experimental factor	GM17250 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014404	\N	\N	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	CLO:0014404	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	63687	\N	\N	EFO	0	EFO	ND02579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND02579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014404	\N	"" []	CLO:0014404	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	204000	\N	\N	EFO	1	EFO	B cell derived cell line	ND02579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014404	\N	"" []	CLO:0014404	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	204001	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND02579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014404	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	557031	\N	\N	EFO	2	EFO	cell line	ND02579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014404	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	557032	\N	\N	EFO	2	EFO	cell line	ND02579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014404	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	1139591	\N	\N	EFO	3	EFO	material entity	ND02579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014404	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	2022645	\N	\N	EFO	4	EFO	experimental factor	ND02579 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014408	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014408	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63688	\N	\N	EFO	0	EFO	GM17248 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17248 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014408	\N	"" []	CLO:0014408	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	204002	\N	\N	EFO	1	EFO	B cell derived cell line	GM17248 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014408	\N	"" []	CLO:0014408	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	204003	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17248 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014408	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557033	\N	\N	EFO	2	EFO	cell line	GM17248 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014408	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557034	\N	\N	EFO	2	EFO	cell line	GM17248 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014408	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139592	\N	\N	EFO	3	EFO	material entity	GM17248 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014408	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022646	\N	\N	EFO	4	EFO	experimental factor	GM17248 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014409	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014409	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63689	\N	\N	EFO	0	EFO	GM17249 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17249 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014409	\N	"" []	CLO:0014409	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	204004	\N	\N	EFO	1	EFO	B cell derived cell line	GM17249 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014409	\N	"" []	CLO:0014409	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	204005	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17249 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014409	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557035	\N	\N	EFO	2	EFO	cell line	GM17249 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014409	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557036	\N	\N	EFO	2	EFO	cell line	GM17249 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014409	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139593	\N	\N	EFO	3	EFO	material entity	GM17249 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014409	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022647	\N	\N	EFO	4	EFO	experimental factor	GM17249 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014410	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014410	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63690	\N	\N	EFO	0	EFO	GM17240 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17240 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014410	\N	"" []	CLO:0014410	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	204006	\N	\N	EFO	1	EFO	B cell derived cell line	GM17240 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014410	\N	"" []	CLO:0014410	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	204007	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17240 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014410	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557037	\N	\N	EFO	2	EFO	cell line	GM17240 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014410	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557038	\N	\N	EFO	2	EFO	cell line	GM17240 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014410	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139594	\N	\N	EFO	3	EFO	material entity	GM17240 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014410	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022648	\N	\N	EFO	4	EFO	experimental factor	GM17240 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014411	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014411	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63691	\N	\N	EFO	0	EFO	GM17241 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17241 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014411	\N	"" []	CLO:0014411	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	204008	\N	\N	EFO	1	EFO	B cell derived cell line	GM17241 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014411	\N	"" []	CLO:0014411	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	204009	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17241 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014411	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557039	\N	\N	EFO	2	EFO	cell line	GM17241 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014411	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557040	\N	\N	EFO	2	EFO	cell line	GM17241 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014411	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139595	\N	\N	EFO	3	EFO	material entity	GM17241 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014411	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022649	\N	\N	EFO	4	EFO	experimental factor	GM17241 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014412	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014412	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63692	\N	\N	EFO	0	EFO	GM17242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014412	\N	"" []	CLO:0014412	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	204010	\N	\N	EFO	1	EFO	B cell derived cell line	GM17242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014412	\N	"" []	CLO:0014412	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	204011	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014412	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557041	\N	\N	EFO	2	EFO	cell line	GM17242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014412	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557042	\N	\N	EFO	2	EFO	cell line	GM17242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014412	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139596	\N	\N	EFO	3	EFO	material entity	GM17242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014412	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022650	\N	\N	EFO	4	EFO	experimental factor	GM17242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014413	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014413	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63693	\N	\N	EFO	0	EFO	GM17243 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17243 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014413	\N	"" []	CLO:0014413	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	204012	\N	\N	EFO	1	EFO	B cell derived cell line	GM17243 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014413	\N	"" []	CLO:0014413	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	204013	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17243 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014413	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557043	\N	\N	EFO	2	EFO	cell line	GM17243 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014413	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557044	\N	\N	EFO	2	EFO	cell line	GM17243 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014413	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139597	\N	\N	EFO	3	EFO	material entity	GM17243 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014413	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022651	\N	\N	EFO	4	EFO	experimental factor	GM17243 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014414	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014414	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63694	\N	\N	EFO	0	EFO	GM17244 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17244 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014414	\N	"" []	CLO:0014414	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	204014	\N	\N	EFO	1	EFO	B cell derived cell line	GM17244 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014414	\N	"" []	CLO:0014414	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	204015	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17244 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014414	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557045	\N	\N	EFO	2	EFO	cell line	GM17244 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014414	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557046	\N	\N	EFO	2	EFO	cell line	GM17244 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014414	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139598	\N	\N	EFO	3	EFO	material entity	GM17244 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014414	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022652	\N	\N	EFO	4	EFO	experimental factor	GM17244 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014415	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	CLO:0014415	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	63695	\N	\N	EFO	0	EFO	GM17245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014415	\N	"" []	CLO:0014415	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	204016	\N	\N	EFO	1	EFO	B cell derived cell line	GM17245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014415	\N	"" []	CLO:0014415	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	204017	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014415	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557047	\N	\N	EFO	2	EFO	cell line	GM17245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014415	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	557048	\N	\N	EFO	2	EFO	cell line	GM17245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014415	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	1139599	\N	\N	EFO	3	EFO	material entity	GM17245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014415	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50" []	2022653	\N	\N	EFO	4	EFO	experimental factor	GM17245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014416	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014416	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63696	\N	\N	EFO	0	EFO	GM17246 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17246 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014416	\N	"" []	CLO:0014416	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	204018	\N	\N	EFO	1	EFO	B cell derived cell line	GM17246 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014416	\N	"" []	CLO:0014416	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	204019	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17246 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014416	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557049	\N	\N	EFO	2	EFO	cell line	GM17246 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014416	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557050	\N	\N	EFO	2	EFO	cell line	GM17246 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014416	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139600	\N	\N	EFO	3	EFO	material entity	GM17246 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014416	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022654	\N	\N	EFO	4	EFO	experimental factor	GM17246 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014417	\N	\N	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	CLO:0014417	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	63697	\N	\N	EFO	0	EFO	GM17247 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17247 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014417	\N	"" []	CLO:0014417	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	204020	\N	\N	EFO	1	EFO	B cell derived cell line	GM17247 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014417	\N	"" []	CLO:0014417	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	204021	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17247 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014417	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557051	\N	\N	EFO	2	EFO	cell line	GM17247 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014417	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	557052	\N	\N	EFO	2	EFO	cell line	GM17247 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014417	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	1139601	\N	\N	EFO	3	EFO	material entity	GM17247 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014417	"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" []	2022655	\N	\N	EFO	4	EFO	experimental factor	GM17247 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014788	\N	\N	"ATAXIA-TELANGIECTASIA; AT" []	CLO:0014788	"ATAXIA-TELANGIECTASIA; AT" []	63698	\N	\N	EFO	0	EFO	GM02783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM02783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014788	\N	"" []	CLO:0014788	"ATAXIA-TELANGIECTASIA; AT" []	204022	\N	\N	EFO	1	EFO	B cell derived cell line	GM02783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014788	\N	"" []	CLO:0014788	"ATAXIA-TELANGIECTASIA; AT" []	204023	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM02783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014788	"ATAXIA-TELANGIECTASIA; AT" []	557053	\N	\N	EFO	2	EFO	cell line	GM02783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014788	"ATAXIA-TELANGIECTASIA; AT" []	557054	\N	\N	EFO	2	EFO	cell line	GM02783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014788	"ATAXIA-TELANGIECTASIA; AT" []	1139602	\N	\N	EFO	3	EFO	material entity	GM02783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014788	"ATAXIA-TELANGIECTASIA; AT" []	2022656	\N	\N	EFO	4	EFO	experimental factor	GM02783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014806	\N	\N	"ANEUPLOID CHROMOSOME NUMBER - TRISOMY TRISOMY 21" []	CLO:0014806	"ANEUPLOID CHROMOSOME NUMBER - TRISOMY TRISOMY 21" []	63699	\N	\N	EFO	0	EFO	GM02767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM02767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0014806	\N	"" []	CLO:0014806	"ANEUPLOID CHROMOSOME NUMBER - TRISOMY TRISOMY 21" []	204024	\N	\N	EFO	1	EFO	fibroblast derived cell line	GM02767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014806	\N	"" []	CLO:0014806	"ANEUPLOID CHROMOSOME NUMBER - TRISOMY TRISOMY 21" []	204025	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM02767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014806	"ANEUPLOID CHROMOSOME NUMBER - TRISOMY TRISOMY 21" []	557055	\N	\N	EFO	2	EFO	cell line	GM02767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014806	"ANEUPLOID CHROMOSOME NUMBER - TRISOMY TRISOMY 21" []	557056	\N	\N	EFO	2	EFO	cell line	GM02767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014806	"ANEUPLOID CHROMOSOME NUMBER - TRISOMY TRISOMY 21" []	1139603	\N	\N	EFO	3	EFO	material entity	GM02767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014806	"ANEUPLOID CHROMOSOME NUMBER - TRISOMY TRISOMY 21" []	2022657	\N	\N	EFO	4	EFO	experimental factor	GM02767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014887	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	CLO:0014887	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	63700	\N	\N	EFO	0	EFO	GM17109 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17109 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014887	\N	"" []	CLO:0014887	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	204026	\N	\N	EFO	1	EFO	B cell derived cell line	GM17109 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014887	\N	"" []	CLO:0014887	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	204027	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17109 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014887	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	557057	\N	\N	EFO	2	EFO	cell line	GM17109 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014887	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	557058	\N	\N	EFO	2	EFO	cell line	GM17109 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014887	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	1139604	\N	\N	EFO	3	EFO	material entity	GM17109 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014887	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	2022658	\N	\N	EFO	4	EFO	experimental factor	GM17109 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014889	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	CLO:0014889	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	63701	\N	\N	EFO	0	EFO	GM17108 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17108 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014889	\N	"" []	CLO:0014889	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204028	\N	\N	EFO	1	EFO	B cell derived cell line	GM17108 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014889	\N	"" []	CLO:0014889	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204029	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17108 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014889	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557059	\N	\N	EFO	2	EFO	cell line	GM17108 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014889	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557060	\N	\N	EFO	2	EFO	cell line	GM17108 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014889	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	1139605	\N	\N	EFO	3	EFO	material entity	GM17108 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014889	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	2022659	\N	\N	EFO	4	EFO	experimental factor	GM17108 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014896	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	CLO:0014896	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	63702	\N	\N	EFO	0	EFO	GM17102 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17102 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014896	\N	"" []	CLO:0014896	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204030	\N	\N	EFO	1	EFO	B cell derived cell line	GM17102 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014896	\N	"" []	CLO:0014896	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204031	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17102 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014896	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557061	\N	\N	EFO	2	EFO	cell line	GM17102 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014896	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557062	\N	\N	EFO	2	EFO	cell line	GM17102 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014896	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	1139606	\N	\N	EFO	3	EFO	material entity	GM17102 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014896	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	2022660	\N	\N	EFO	4	EFO	experimental factor	GM17102 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014898	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	CLO:0014898	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	63703	\N	\N	EFO	0	EFO	GM17103 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17103 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014898	\N	"" []	CLO:0014898	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204032	\N	\N	EFO	1	EFO	B cell derived cell line	GM17103 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014898	\N	"" []	CLO:0014898	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204033	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17103 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014898	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557063	\N	\N	EFO	2	EFO	cell line	GM17103 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014898	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557064	\N	\N	EFO	2	EFO	cell line	GM17103 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014898	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	1139607	\N	\N	EFO	3	EFO	material entity	GM17103 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014898	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	2022661	\N	\N	EFO	4	EFO	experimental factor	GM17103 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014900	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	CLO:0014900	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	63704	\N	\N	EFO	0	EFO	GM17104 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17104 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014900	\N	"" []	CLO:0014900	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204034	\N	\N	EFO	1	EFO	B cell derived cell line	GM17104 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014900	\N	"" []	CLO:0014900	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204035	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17104 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014900	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557065	\N	\N	EFO	2	EFO	cell line	GM17104 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014900	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557066	\N	\N	EFO	2	EFO	cell line	GM17104 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014900	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	1139608	\N	\N	EFO	3	EFO	material entity	GM17104 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014900	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	2022662	\N	\N	EFO	4	EFO	experimental factor	GM17104 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014901	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	CLO:0014901	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	63705	\N	\N	EFO	0	EFO	GM17105 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17105 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014901	\N	"" []	CLO:0014901	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204036	\N	\N	EFO	1	EFO	B cell derived cell line	GM17105 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014901	\N	"" []	CLO:0014901	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204037	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17105 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014901	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557067	\N	\N	EFO	2	EFO	cell line	GM17105 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014901	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557068	\N	\N	EFO	2	EFO	cell line	GM17105 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014901	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	1139609	\N	\N	EFO	3	EFO	material entity	GM17105 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014901	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	2022663	\N	\N	EFO	4	EFO	experimental factor	GM17105 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014902	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	CLO:0014902	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	63706	\N	\N	EFO	0	EFO	GM17106 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17106 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014902	\N	"" []	CLO:0014902	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204038	\N	\N	EFO	1	EFO	B cell derived cell line	GM17106 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014902	\N	"" []	CLO:0014902	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204039	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17106 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014902	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557069	\N	\N	EFO	2	EFO	cell line	GM17106 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014902	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557070	\N	\N	EFO	2	EFO	cell line	GM17106 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014902	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	1139610	\N	\N	EFO	3	EFO	material entity	GM17106 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014902	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	2022664	\N	\N	EFO	4	EFO	experimental factor	GM17106 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014903	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	CLO:0014903	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	63707	\N	\N	EFO	0	EFO	GM17107 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17107 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014903	\N	"" []	CLO:0014903	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204040	\N	\N	EFO	1	EFO	B cell derived cell line	GM17107 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014903	\N	"" []	CLO:0014903	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204041	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17107 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014903	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557071	\N	\N	EFO	2	EFO	cell line	GM17107 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014903	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557072	\N	\N	EFO	2	EFO	cell line	GM17107 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014903	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	1139611	\N	\N	EFO	3	EFO	material entity	GM17107 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014903	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	2022665	\N	\N	EFO	4	EFO	experimental factor	GM17107 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014942	\N	\N	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014942	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63708	\N	\N	EFO	0	EFO	GM17119 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17119 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014942	\N	"" []	CLO:0014942	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204042	\N	\N	EFO	1	EFO	B cell derived cell line	GM17119 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014942	\N	"" []	CLO:0014942	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204043	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17119 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014942	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557073	\N	\N	EFO	2	EFO	cell line	GM17119 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014942	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557074	\N	\N	EFO	2	EFO	cell line	GM17119 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014942	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139612	\N	\N	EFO	3	EFO	material entity	GM17119 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014942	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022666	\N	\N	EFO	4	EFO	experimental factor	GM17119 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014943	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	CLO:0014943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	63709	\N	\N	EFO	0	EFO	GM17113 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17113 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014943	\N	"" []	CLO:0014943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204044	\N	\N	EFO	1	EFO	B cell derived cell line	GM17113 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014943	\N	"" []	CLO:0014943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204045	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17113 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557075	\N	\N	EFO	2	EFO	cell line	GM17113 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557076	\N	\N	EFO	2	EFO	cell line	GM17113 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	1139613	\N	\N	EFO	3	EFO	material entity	GM17113 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014943	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	2022667	\N	\N	EFO	4	EFO	experimental factor	GM17113 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014945	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	CLO:0014945	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	63710	\N	\N	EFO	0	EFO	GM17114 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17114 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014945	\N	"" []	CLO:0014945	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	204046	\N	\N	EFO	1	EFO	B cell derived cell line	GM17114 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014945	\N	"" []	CLO:0014945	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	204047	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17114 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014945	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	557077	\N	\N	EFO	2	EFO	cell line	GM17114 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014945	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	557078	\N	\N	EFO	2	EFO	cell line	GM17114 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014945	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	1139614	\N	\N	EFO	3	EFO	material entity	GM17114 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014945	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	2022668	\N	\N	EFO	4	EFO	experimental factor	GM17114 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014947	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	CLO:0014947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	63711	\N	\N	EFO	0	EFO	GM17111 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17111 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014947	\N	"" []	CLO:0014947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	204048	\N	\N	EFO	1	EFO	B cell derived cell line	GM17111 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014947	\N	"" []	CLO:0014947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	204049	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17111 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	557079	\N	\N	EFO	2	EFO	cell line	GM17111 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	557080	\N	\N	EFO	2	EFO	cell line	GM17111 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	1139615	\N	\N	EFO	3	EFO	material entity	GM17111 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014947	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	2022669	\N	\N	EFO	4	EFO	experimental factor	GM17111 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014948	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	CLO:0014948	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	63712	\N	\N	EFO	0	EFO	GM17112 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17112 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014948	\N	"" []	CLO:0014948	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204050	\N	\N	EFO	1	EFO	B cell derived cell line	GM17112 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014948	\N	"" []	CLO:0014948	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204051	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17112 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014948	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557081	\N	\N	EFO	2	EFO	cell line	GM17112 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014948	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557082	\N	\N	EFO	2	EFO	cell line	GM17112 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014948	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	1139616	\N	\N	EFO	3	EFO	material entity	GM17112 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014948	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	2022670	\N	\N	EFO	4	EFO	experimental factor	GM17112 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014950	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014950	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63713	\N	\N	EFO	0	EFO	GM17117 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17117 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014950	\N	"" []	CLO:0014950	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204052	\N	\N	EFO	1	EFO	B cell derived cell line	GM17117 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014950	\N	"" []	CLO:0014950	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204053	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17117 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014950	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557083	\N	\N	EFO	2	EFO	cell line	GM17117 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014950	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557084	\N	\N	EFO	2	EFO	cell line	GM17117 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014950	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139617	\N	\N	EFO	3	EFO	material entity	GM17117 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014950	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022671	\N	\N	EFO	4	EFO	experimental factor	GM17117 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014951	\N	\N	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0014951	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63714	\N	\N	EFO	0	EFO	GM17118 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17118 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014951	\N	"" []	CLO:0014951	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204054	\N	\N	EFO	1	EFO	B cell derived cell line	GM17118 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014951	\N	"" []	CLO:0014951	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204055	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17118 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014951	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557085	\N	\N	EFO	2	EFO	cell line	GM17118 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014951	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557086	\N	\N	EFO	2	EFO	cell line	GM17118 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014951	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139618	\N	\N	EFO	3	EFO	material entity	GM17118 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014951	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022672	\N	\N	EFO	4	EFO	experimental factor	GM17118 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014952	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	CLO:0014952	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	63715	\N	\N	EFO	0	EFO	GM17115 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17115 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014952	\N	"" []	CLO:0014952	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	204056	\N	\N	EFO	1	EFO	B cell derived cell line	GM17115 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014952	\N	"" []	CLO:0014952	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	204057	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17115 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014952	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	557087	\N	\N	EFO	2	EFO	cell line	GM17115 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014952	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	557088	\N	\N	EFO	2	EFO	cell line	GM17115 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014952	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	1139619	\N	\N	EFO	3	EFO	material entity	GM17115 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014952	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	2022673	\N	\N	EFO	4	EFO	experimental factor	GM17115 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014953	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	CLO:0014953	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	63716	\N	\N	EFO	0	EFO	GM17116 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17116 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014953	\N	"" []	CLO:0014953	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204058	\N	\N	EFO	1	EFO	B cell derived cell line	GM17116 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014953	\N	"" []	CLO:0014953	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204059	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17116 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014953	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557089	\N	\N	EFO	2	EFO	cell line	GM17116 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014953	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557090	\N	\N	EFO	2	EFO	cell line	GM17116 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014953	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	1139620	\N	\N	EFO	3	EFO	material entity	GM17116 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014953	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	2022674	\N	\N	EFO	4	EFO	experimental factor	GM17116 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0014964	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	CLO:0014964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	63717	\N	\N	EFO	0	EFO	GM17110 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17110 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0014964	\N	"" []	CLO:0014964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	204060	\N	\N	EFO	1	EFO	B cell derived cell line	GM17110 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0014964	\N	"" []	CLO:0014964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	204061	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17110 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	557091	\N	\N	EFO	2	EFO	cell line	GM17110 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0014964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	557092	\N	\N	EFO	2	EFO	cell line	GM17110 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0014964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	1139621	\N	\N	EFO	3	EFO	material entity	GM17110 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0014964	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8" []	2022675	\N	\N	EFO	4	EFO	experimental factor	GM17110 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015081	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	CLO:0015081	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	63718	\N	\N	EFO	0	EFO	GM17132 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17132 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015081	\N	"" []	CLO:0015081	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204062	\N	\N	EFO	1	EFO	B cell derived cell line	GM17132 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015081	\N	"" []	CLO:0015081	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204063	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17132 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015081	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557093	\N	\N	EFO	2	EFO	cell line	GM17132 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015081	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557094	\N	\N	EFO	2	EFO	cell line	GM17132 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015081	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	1139622	\N	\N	EFO	3	EFO	material entity	GM17132 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015081	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	2022676	\N	\N	EFO	4	EFO	experimental factor	GM17132 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015082	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0015082	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63719	\N	\N	EFO	0	EFO	GM17133 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17133 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015082	\N	"" []	CLO:0015082	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204064	\N	\N	EFO	1	EFO	B cell derived cell line	GM17133 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015082	\N	"" []	CLO:0015082	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204065	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17133 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015082	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557095	\N	\N	EFO	2	EFO	cell line	GM17133 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015082	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557096	\N	\N	EFO	2	EFO	cell line	GM17133 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015082	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139623	\N	\N	EFO	3	EFO	material entity	GM17133 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015082	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022677	\N	\N	EFO	4	EFO	experimental factor	GM17133 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015085	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	CLO:0015085	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	63720	\N	\N	EFO	0	EFO	GM17130 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17130 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015085	\N	"" []	CLO:0015085	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	204066	\N	\N	EFO	1	EFO	B cell derived cell line	GM17130 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015085	\N	"" []	CLO:0015085	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	204067	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17130 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015085	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	557097	\N	\N	EFO	2	EFO	cell line	GM17130 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015085	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	557098	\N	\N	EFO	2	EFO	cell line	GM17130 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015085	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	1139624	\N	\N	EFO	3	EFO	material entity	GM17130 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015085	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	2022678	\N	\N	EFO	4	EFO	experimental factor	GM17130 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015087	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	CLO:0015087	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	63721	\N	\N	EFO	0	EFO	GM17131 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17131 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015087	\N	"" []	CLO:0015087	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	204068	\N	\N	EFO	1	EFO	B cell derived cell line	GM17131 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015087	\N	"" []	CLO:0015087	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	204069	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17131 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015087	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	557099	\N	\N	EFO	2	EFO	cell line	GM17131 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015087	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	557100	\N	\N	EFO	2	EFO	cell line	GM17131 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015087	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	1139625	\N	\N	EFO	3	EFO	material entity	GM17131 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015087	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	2022679	\N	\N	EFO	4	EFO	experimental factor	GM17131 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015088	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	CLO:0015088	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	63722	\N	\N	EFO	0	EFO	GM17136 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17136 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015088	\N	"" []	CLO:0015088	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	204070	\N	\N	EFO	1	EFO	B cell derived cell line	GM17136 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015088	\N	"" []	CLO:0015088	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	204071	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17136 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015088	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	557101	\N	\N	EFO	2	EFO	cell line	GM17136 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015088	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	557102	\N	\N	EFO	2	EFO	cell line	GM17136 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015088	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	1139626	\N	\N	EFO	3	EFO	material entity	GM17136 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015088	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16" []	2022680	\N	\N	EFO	4	EFO	experimental factor	GM17136 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015090	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	CLO:0015090	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	63723	\N	\N	EFO	0	EFO	GM17137 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17137 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015090	\N	"" []	CLO:0015090	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204072	\N	\N	EFO	1	EFO	B cell derived cell line	GM17137 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015090	\N	"" []	CLO:0015090	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204073	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17137 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015090	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557103	\N	\N	EFO	2	EFO	cell line	GM17137 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015090	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557104	\N	\N	EFO	2	EFO	cell line	GM17137 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015090	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	1139627	\N	\N	EFO	3	EFO	material entity	GM17137 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015090	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	2022681	\N	\N	EFO	4	EFO	experimental factor	GM17137 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015093	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0015093	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63724	\N	\N	EFO	0	EFO	GM17134 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17134 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015093	\N	"" []	CLO:0015093	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204074	\N	\N	EFO	1	EFO	B cell derived cell line	GM17134 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015093	\N	"" []	CLO:0015093	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204075	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17134 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015093	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557105	\N	\N	EFO	2	EFO	cell line	GM17134 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015093	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557106	\N	\N	EFO	2	EFO	cell line	GM17134 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015093	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139628	\N	\N	EFO	3	EFO	material entity	GM17134 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015093	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022682	\N	\N	EFO	4	EFO	experimental factor	GM17134 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015094	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	CLO:0015094	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	63725	\N	\N	EFO	0	EFO	GM17135 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17135 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015094	\N	"" []	CLO:0015094	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204076	\N	\N	EFO	1	EFO	B cell derived cell line	GM17135 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015094	\N	"" []	CLO:0015094	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	204077	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17135 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015094	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557107	\N	\N	EFO	2	EFO	cell line	GM17135 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015094	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	557108	\N	\N	EFO	2	EFO	cell line	GM17135 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015094	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	1139629	\N	\N	EFO	3	EFO	material entity	GM17135 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015094	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" []	2022683	\N	\N	EFO	4	EFO	experimental factor	GM17135 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015097	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	CLO:0015097	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	63726	\N	\N	EFO	0	EFO	GM17138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015097	\N	"" []	CLO:0015097	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204078	\N	\N	EFO	1	EFO	B cell derived cell line	GM17138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015097	\N	"" []	CLO:0015097	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204079	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015097	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557109	\N	\N	EFO	2	EFO	cell line	GM17138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015097	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557110	\N	\N	EFO	2	EFO	cell line	GM17138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015097	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	1139630	\N	\N	EFO	3	EFO	material entity	GM17138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015097	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	2022684	\N	\N	EFO	4	EFO	experimental factor	GM17138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015098	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	CLO:0015098	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	63727	\N	\N	EFO	0	EFO	GM17139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015098	\N	"" []	CLO:0015098	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204080	\N	\N	EFO	1	EFO	B cell derived cell line	GM17139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015098	\N	"" []	CLO:0015098	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204081	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015098	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557111	\N	\N	EFO	2	EFO	cell line	GM17139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015098	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557112	\N	\N	EFO	2	EFO	cell line	GM17139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015098	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	1139631	\N	\N	EFO	3	EFO	material entity	GM17139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015098	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	2022685	\N	\N	EFO	4	EFO	experimental factor	GM17139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015112	\N	\N	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0015112	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63728	\N	\N	EFO	0	EFO	GM17120 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17120 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015112	\N	"" []	CLO:0015112	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204082	\N	\N	EFO	1	EFO	B cell derived cell line	GM17120 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015112	\N	"" []	CLO:0015112	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204083	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17120 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015112	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557113	\N	\N	EFO	2	EFO	cell line	GM17120 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015112	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557114	\N	\N	EFO	2	EFO	cell line	GM17120 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015112	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139632	\N	\N	EFO	3	EFO	material entity	GM17120 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015112	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022686	\N	\N	EFO	4	EFO	experimental factor	GM17120 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015115	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	CLO:0015115	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	63729	\N	\N	EFO	0	EFO	GM17121 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17121 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015115	\N	"" []	CLO:0015115	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204084	\N	\N	EFO	1	EFO	B cell derived cell line	GM17121 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015115	\N	"" []	CLO:0015115	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204085	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17121 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015115	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557115	\N	\N	EFO	2	EFO	cell line	GM17121 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015115	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557116	\N	\N	EFO	2	EFO	cell line	GM17121 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015115	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	1139633	\N	\N	EFO	3	EFO	material entity	GM17121 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015115	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	2022687	\N	\N	EFO	4	EFO	experimental factor	GM17121 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015117	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	CLO:0015117	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	63730	\N	\N	EFO	0	EFO	GM17122 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17122 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015117	\N	"" []	CLO:0015117	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204086	\N	\N	EFO	1	EFO	B cell derived cell line	GM17122 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015117	\N	"" []	CLO:0015117	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204087	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17122 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015117	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557117	\N	\N	EFO	2	EFO	cell line	GM17122 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015117	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557118	\N	\N	EFO	2	EFO	cell line	GM17122 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015117	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	1139634	\N	\N	EFO	3	EFO	material entity	GM17122 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015117	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	2022688	\N	\N	EFO	4	EFO	experimental factor	GM17122 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015119	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	CLO:0015119	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	63731	\N	\N	EFO	0	EFO	GM17123 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17123 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015119	\N	"" []	CLO:0015119	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204088	\N	\N	EFO	1	EFO	B cell derived cell line	GM17123 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015119	\N	"" []	CLO:0015119	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204089	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17123 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015119	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557119	\N	\N	EFO	2	EFO	cell line	GM17123 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015119	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557120	\N	\N	EFO	2	EFO	cell line	GM17123 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015119	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	1139635	\N	\N	EFO	3	EFO	material entity	GM17123 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015119	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	2022689	\N	\N	EFO	4	EFO	experimental factor	GM17123 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015121	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	CLO:0015121	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	63732	\N	\N	EFO	0	EFO	GM17124 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17124 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015121	\N	"" []	CLO:0015121	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204090	\N	\N	EFO	1	EFO	B cell derived cell line	GM17124 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015121	\N	"" []	CLO:0015121	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	204091	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17124 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015121	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557121	\N	\N	EFO	2	EFO	cell line	GM17124 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015121	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	557122	\N	\N	EFO	2	EFO	cell line	GM17124 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015121	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	1139636	\N	\N	EFO	3	EFO	material entity	GM17124 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015121	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" []	2022690	\N	\N	EFO	4	EFO	experimental factor	GM17124 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015123	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0015123	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63733	\N	\N	EFO	0	EFO	GM17125 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17125 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015123	\N	"" []	CLO:0015123	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204092	\N	\N	EFO	1	EFO	B cell derived cell line	GM17125 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015123	\N	"" []	CLO:0015123	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204093	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17125 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015123	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557123	\N	\N	EFO	2	EFO	cell line	GM17125 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015123	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557124	\N	\N	EFO	2	EFO	cell line	GM17125 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015123	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139637	\N	\N	EFO	3	EFO	material entity	GM17125 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015123	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022691	\N	\N	EFO	4	EFO	experimental factor	GM17125 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015124	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0015124	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63734	\N	\N	EFO	0	EFO	GM17126 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17126 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015124	\N	"" []	CLO:0015124	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204094	\N	\N	EFO	1	EFO	B cell derived cell line	GM17126 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015124	\N	"" []	CLO:0015124	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204095	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17126 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015124	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557125	\N	\N	EFO	2	EFO	cell line	GM17126 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015124	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557126	\N	\N	EFO	2	EFO	cell line	GM17126 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015124	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139638	\N	\N	EFO	3	EFO	material entity	GM17126 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015124	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022692	\N	\N	EFO	4	EFO	experimental factor	GM17126 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015126	\N	\N	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0015126	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63735	\N	\N	EFO	0	EFO	GM17127 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17127 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015126	\N	"" []	CLO:0015126	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204096	\N	\N	EFO	1	EFO	B cell derived cell line	GM17127 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015126	\N	"" []	CLO:0015126	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204097	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17127 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015126	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557127	\N	\N	EFO	2	EFO	cell line	GM17127 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015126	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557128	\N	\N	EFO	2	EFO	cell line	GM17127 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015126	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139639	\N	\N	EFO	3	EFO	material entity	GM17127 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015126	"UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022693	\N	\N	EFO	4	EFO	experimental factor	GM17127 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015128	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	CLO:0015128	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	63736	\N	\N	EFO	0	EFO	GM17128 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17128 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015128	\N	"" []	CLO:0015128	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204098	\N	\N	EFO	1	EFO	B cell derived cell line	GM17128 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015128	\N	"" []	CLO:0015128	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	204099	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17128 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015128	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557129	\N	\N	EFO	2	EFO	cell line	GM17128 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015128	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	557130	\N	\N	EFO	2	EFO	cell line	GM17128 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015128	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	1139640	\N	\N	EFO	3	EFO	material entity	GM17128 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015128	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100" []	2022694	\N	\N	EFO	4	EFO	experimental factor	GM17128 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015130	\N	\N	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	CLO:0015130	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	63737	\N	\N	EFO	0	EFO	GM17129 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17129 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015130	\N	"" []	CLO:0015130	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	204100	\N	\N	EFO	1	EFO	B cell derived cell line	GM17129 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015130	\N	"" []	CLO:0015130	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	204101	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17129 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015130	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	557131	\N	\N	EFO	2	EFO	cell line	GM17129 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015130	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	557132	\N	\N	EFO	2	EFO	cell line	GM17129 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015130	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	1139641	\N	\N	EFO	3	EFO	material entity	GM17129 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015130	"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	2022695	\N	\N	EFO	4	EFO	experimental factor	GM17129 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0015209	\N	\N	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	CLO:0015209	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	63738	\N	\N	EFO	0	EFO	ND02852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND02852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0015209	\N	"" []	CLO:0015209	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	204102	\N	\N	EFO	1	EFO	B cell derived cell line	ND02852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0015209	\N	"" []	CLO:0015209	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	204103	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND02852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015209	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	557133	\N	\N	EFO	2	EFO	cell line	ND02852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0015209	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	557134	\N	\N	EFO	2	EFO	cell line	ND02852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0015209	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	1139642	\N	\N	EFO	3	EFO	material entity	ND02852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0015209	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	2022696	\N	\N	EFO	4	EFO	experimental factor	ND02852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016362	\N	\N	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	CLO:0016362	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	63739	\N	\N	EFO	0	EFO	ND01737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND01737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016362	\N	"" []	CLO:0016362	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	204104	\N	\N	EFO	1	EFO	B cell derived cell line	ND01737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016362	\N	"" []	CLO:0016362	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	204105	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND01737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016362	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	557135	\N	\N	EFO	2	EFO	cell line	ND01737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016362	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	557136	\N	\N	EFO	2	EFO	cell line	ND01737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016362	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	1139643	\N	\N	EFO	3	EFO	material entity	ND01737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016362	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	2022697	\N	\N	EFO	4	EFO	experimental factor	ND01737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016449	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016449	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63740	\N	\N	EFO	0	EFO	GM17852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016449	\N	"" []	CLO:0016449	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204106	\N	\N	EFO	1	EFO	B cell derived cell line	GM17852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016449	\N	"" []	CLO:0016449	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204107	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016449	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557137	\N	\N	EFO	2	EFO	cell line	GM17852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016449	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557138	\N	\N	EFO	2	EFO	cell line	GM17852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016449	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139644	\N	\N	EFO	3	EFO	material entity	GM17852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016449	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022698	\N	\N	EFO	4	EFO	experimental factor	GM17852 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016450	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016450	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63741	\N	\N	EFO	0	EFO	GM17850 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17850 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016450	\N	"" []	CLO:0016450	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204108	\N	\N	EFO	1	EFO	B cell derived cell line	GM17850 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016450	\N	"" []	CLO:0016450	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204109	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17850 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016450	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557139	\N	\N	EFO	2	EFO	cell line	GM17850 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016450	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557140	\N	\N	EFO	2	EFO	cell line	GM17850 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016450	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139645	\N	\N	EFO	3	EFO	material entity	GM17850 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016450	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022699	\N	\N	EFO	4	EFO	experimental factor	GM17850 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016453	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016453	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63742	\N	\N	EFO	0	EFO	GM17845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016453	\N	"" []	CLO:0016453	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204110	\N	\N	EFO	1	EFO	B cell derived cell line	GM17845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016453	\N	"" []	CLO:0016453	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204111	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016453	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557141	\N	\N	EFO	2	EFO	cell line	GM17845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016453	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557142	\N	\N	EFO	2	EFO	cell line	GM17845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016453	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139646	\N	\N	EFO	3	EFO	material entity	GM17845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016453	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022700	\N	\N	EFO	4	EFO	experimental factor	GM17845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016454	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016454	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63743	\N	\N	EFO	0	EFO	GM17844 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17844 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016454	\N	"" []	CLO:0016454	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204112	\N	\N	EFO	1	EFO	B cell derived cell line	GM17844 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016454	\N	"" []	CLO:0016454	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204113	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17844 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016454	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557143	\N	\N	EFO	2	EFO	cell line	GM17844 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016454	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557144	\N	\N	EFO	2	EFO	cell line	GM17844 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016454	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139647	\N	\N	EFO	3	EFO	material entity	GM17844 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016454	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022701	\N	\N	EFO	4	EFO	experimental factor	GM17844 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016455	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016455	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63744	\N	\N	EFO	0	EFO	GM17847 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17847 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016455	\N	"" []	CLO:0016455	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204114	\N	\N	EFO	1	EFO	B cell derived cell line	GM17847 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016455	\N	"" []	CLO:0016455	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204115	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17847 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016455	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557145	\N	\N	EFO	2	EFO	cell line	GM17847 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016455	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557146	\N	\N	EFO	2	EFO	cell line	GM17847 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016455	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139648	\N	\N	EFO	3	EFO	material entity	GM17847 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016455	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022702	\N	\N	EFO	4	EFO	experimental factor	GM17847 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016456	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016456	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63745	\N	\N	EFO	0	EFO	GM17846 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17846 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016456	\N	"" []	CLO:0016456	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204116	\N	\N	EFO	1	EFO	B cell derived cell line	GM17846 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016456	\N	"" []	CLO:0016456	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204117	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17846 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016456	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557147	\N	\N	EFO	2	EFO	cell line	GM17846 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016456	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557148	\N	\N	EFO	2	EFO	cell line	GM17846 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016456	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139649	\N	\N	EFO	3	EFO	material entity	GM17846 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016456	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022703	\N	\N	EFO	4	EFO	experimental factor	GM17846 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016457	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016457	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63746	\N	\N	EFO	0	EFO	GM17842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016457	\N	"" []	CLO:0016457	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204118	\N	\N	EFO	1	EFO	B cell derived cell line	GM17842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016457	\N	"" []	CLO:0016457	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204119	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016457	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557149	\N	\N	EFO	2	EFO	cell line	GM17842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016457	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557150	\N	\N	EFO	2	EFO	cell line	GM17842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016457	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139650	\N	\N	EFO	3	EFO	material entity	GM17842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016457	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022704	\N	\N	EFO	4	EFO	experimental factor	GM17842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016458	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016458	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63747	\N	\N	EFO	0	EFO	GM17843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016458	\N	"" []	CLO:0016458	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204120	\N	\N	EFO	1	EFO	B cell derived cell line	GM17843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016458	\N	"" []	CLO:0016458	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204121	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016458	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557151	\N	\N	EFO	2	EFO	cell line	GM17843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016458	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557152	\N	\N	EFO	2	EFO	cell line	GM17843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016458	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139651	\N	\N	EFO	3	EFO	material entity	GM17843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016458	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022705	\N	\N	EFO	4	EFO	experimental factor	GM17843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016489	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016489	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63748	\N	\N	EFO	0	EFO	GM17798 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17798 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016489	\N	"" []	CLO:0016489	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204122	\N	\N	EFO	1	EFO	B cell derived cell line	GM17798 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016489	\N	"" []	CLO:0016489	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204123	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17798 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016489	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557153	\N	\N	EFO	2	EFO	cell line	GM17798 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016489	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557154	\N	\N	EFO	2	EFO	cell line	GM17798 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016489	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139652	\N	\N	EFO	3	EFO	material entity	GM17798 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016489	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022706	\N	\N	EFO	4	EFO	experimental factor	GM17798 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016490	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016490	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63749	\N	\N	EFO	0	EFO	GM17799 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17799 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016490	\N	"" []	CLO:0016490	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204124	\N	\N	EFO	1	EFO	B cell derived cell line	GM17799 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016490	\N	"" []	CLO:0016490	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204125	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17799 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016490	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557155	\N	\N	EFO	2	EFO	cell line	GM17799 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016490	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557156	\N	\N	EFO	2	EFO	cell line	GM17799 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016490	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139653	\N	\N	EFO	3	EFO	material entity	GM17799 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016490	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022707	\N	\N	EFO	4	EFO	experimental factor	GM17799 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016491	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016491	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63750	\N	\N	EFO	0	EFO	GM17800 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17800 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016491	\N	"" []	CLO:0016491	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204126	\N	\N	EFO	1	EFO	B cell derived cell line	GM17800 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016491	\N	"" []	CLO:0016491	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204127	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17800 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016491	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557157	\N	\N	EFO	2	EFO	cell line	GM17800 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016491	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557158	\N	\N	EFO	2	EFO	cell line	GM17800 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016491	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139654	\N	\N	EFO	3	EFO	material entity	GM17800 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016491	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022708	\N	\N	EFO	4	EFO	experimental factor	GM17800 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016492	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016492	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63751	\N	\N	EFO	0	EFO	GM17801 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17801 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016492	\N	"" []	CLO:0016492	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204128	\N	\N	EFO	1	EFO	B cell derived cell line	GM17801 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016492	\N	"" []	CLO:0016492	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204129	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17801 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016492	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557159	\N	\N	EFO	2	EFO	cell line	GM17801 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016492	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557160	\N	\N	EFO	2	EFO	cell line	GM17801 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016492	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139655	\N	\N	EFO	3	EFO	material entity	GM17801 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016492	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022709	\N	\N	EFO	4	EFO	experimental factor	GM17801 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016493	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016493	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63752	\N	\N	EFO	0	EFO	GM17796 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17796 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016493	\N	"" []	CLO:0016493	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204130	\N	\N	EFO	1	EFO	B cell derived cell line	GM17796 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016493	\N	"" []	CLO:0016493	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204131	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17796 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016493	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557161	\N	\N	EFO	2	EFO	cell line	GM17796 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016493	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557162	\N	\N	EFO	2	EFO	cell line	GM17796 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016493	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139656	\N	\N	EFO	3	EFO	material entity	GM17796 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016493	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022710	\N	\N	EFO	4	EFO	experimental factor	GM17796 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016494	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016494	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63753	\N	\N	EFO	0	EFO	GM17797 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17797 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016494	\N	"" []	CLO:0016494	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204132	\N	\N	EFO	1	EFO	B cell derived cell line	GM17797 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016494	\N	"" []	CLO:0016494	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204133	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17797 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016494	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557163	\N	\N	EFO	2	EFO	cell line	GM17797 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016494	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557164	\N	\N	EFO	2	EFO	cell line	GM17797 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016494	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139657	\N	\N	EFO	3	EFO	material entity	GM17797 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016494	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022711	\N	\N	EFO	4	EFO	experimental factor	GM17797 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016495	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016495	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63754	\N	\N	EFO	0	EFO	GM17802 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17802 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016495	\N	"" []	CLO:0016495	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204134	\N	\N	EFO	1	EFO	B cell derived cell line	GM17802 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016495	\N	"" []	CLO:0016495	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204135	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17802 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016495	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557165	\N	\N	EFO	2	EFO	cell line	GM17802 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016495	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557166	\N	\N	EFO	2	EFO	cell line	GM17802 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016495	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139658	\N	\N	EFO	3	EFO	material entity	GM17802 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016495	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022712	\N	\N	EFO	4	EFO	experimental factor	GM17802 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016496	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016496	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63755	\N	\N	EFO	0	EFO	GM17803 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17803 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016496	\N	"" []	CLO:0016496	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204136	\N	\N	EFO	1	EFO	B cell derived cell line	GM17803 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016496	\N	"" []	CLO:0016496	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204137	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17803 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016496	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557167	\N	\N	EFO	2	EFO	cell line	GM17803 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016496	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557168	\N	\N	EFO	2	EFO	cell line	GM17803 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016496	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139659	\N	\N	EFO	3	EFO	material entity	GM17803 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016496	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022713	\N	\N	EFO	4	EFO	experimental factor	GM17803 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016497	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016497	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63756	\N	\N	EFO	0	EFO	GM17804 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17804 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016497	\N	"" []	CLO:0016497	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204138	\N	\N	EFO	1	EFO	B cell derived cell line	GM17804 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016497	\N	"" []	CLO:0016497	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204139	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17804 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016497	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557169	\N	\N	EFO	2	EFO	cell line	GM17804 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016497	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557170	\N	\N	EFO	2	EFO	cell line	GM17804 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016497	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139660	\N	\N	EFO	3	EFO	material entity	GM17804 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016497	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022714	\N	\N	EFO	4	EFO	experimental factor	GM17804 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016498	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016498	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63757	\N	\N	EFO	0	EFO	GM17805 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17805 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016498	\N	"" []	CLO:0016498	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204140	\N	\N	EFO	1	EFO	B cell derived cell line	GM17805 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016498	\N	"" []	CLO:0016498	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204141	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17805 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016498	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557171	\N	\N	EFO	2	EFO	cell line	GM17805 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016498	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557172	\N	\N	EFO	2	EFO	cell line	GM17805 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016498	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139661	\N	\N	EFO	3	EFO	material entity	GM17805 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016498	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022715	\N	\N	EFO	4	EFO	experimental factor	GM17805 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016499	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016499	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63758	\N	\N	EFO	0	EFO	GM17811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016499	\N	"" []	CLO:0016499	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204142	\N	\N	EFO	1	EFO	B cell derived cell line	GM17811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016499	\N	"" []	CLO:0016499	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204143	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016499	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557173	\N	\N	EFO	2	EFO	cell line	GM17811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016499	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557174	\N	\N	EFO	2	EFO	cell line	GM17811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016499	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139662	\N	\N	EFO	3	EFO	material entity	GM17811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016499	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022716	\N	\N	EFO	4	EFO	experimental factor	GM17811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016500	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016500	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63759	\N	\N	EFO	0	EFO	GM17812 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17812 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016500	\N	"" []	CLO:0016500	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204144	\N	\N	EFO	1	EFO	B cell derived cell line	GM17812 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016500	\N	"" []	CLO:0016500	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204145	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17812 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016500	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557175	\N	\N	EFO	2	EFO	cell line	GM17812 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016500	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557176	\N	\N	EFO	2	EFO	cell line	GM17812 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016500	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139663	\N	\N	EFO	3	EFO	material entity	GM17812 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016500	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022717	\N	\N	EFO	4	EFO	experimental factor	GM17812 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016501	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016501	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63760	\N	\N	EFO	0	EFO	GM17809 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17809 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016501	\N	"" []	CLO:0016501	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204146	\N	\N	EFO	1	EFO	B cell derived cell line	GM17809 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016501	\N	"" []	CLO:0016501	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204147	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17809 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016501	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557177	\N	\N	EFO	2	EFO	cell line	GM17809 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016501	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557178	\N	\N	EFO	2	EFO	cell line	GM17809 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016501	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139664	\N	\N	EFO	3	EFO	material entity	GM17809 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016501	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022718	\N	\N	EFO	4	EFO	experimental factor	GM17809 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016502	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016502	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63761	\N	\N	EFO	0	EFO	GM17810 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17810 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016502	\N	"" []	CLO:0016502	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204148	\N	\N	EFO	1	EFO	B cell derived cell line	GM17810 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016502	\N	"" []	CLO:0016502	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204149	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17810 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016502	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557179	\N	\N	EFO	2	EFO	cell line	GM17810 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016502	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557180	\N	\N	EFO	2	EFO	cell line	GM17810 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016502	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139665	\N	\N	EFO	3	EFO	material entity	GM17810 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016502	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022719	\N	\N	EFO	4	EFO	experimental factor	GM17810 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016503	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016503	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63762	\N	\N	EFO	0	EFO	GM17807 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17807 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016503	\N	"" []	CLO:0016503	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204150	\N	\N	EFO	1	EFO	B cell derived cell line	GM17807 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016503	\N	"" []	CLO:0016503	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204151	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17807 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016503	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557181	\N	\N	EFO	2	EFO	cell line	GM17807 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016503	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557182	\N	\N	EFO	2	EFO	cell line	GM17807 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016503	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139666	\N	\N	EFO	3	EFO	material entity	GM17807 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016503	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022720	\N	\N	EFO	4	EFO	experimental factor	GM17807 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016504	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016504	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63763	\N	\N	EFO	0	EFO	GM17808 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17808 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016504	\N	"" []	CLO:0016504	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204152	\N	\N	EFO	1	EFO	B cell derived cell line	GM17808 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016504	\N	"" []	CLO:0016504	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204153	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17808 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016504	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557183	\N	\N	EFO	2	EFO	cell line	GM17808 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016504	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557184	\N	\N	EFO	2	EFO	cell line	GM17808 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016504	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139667	\N	\N	EFO	3	EFO	material entity	GM17808 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016504	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022721	\N	\N	EFO	4	EFO	experimental factor	GM17808 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016505	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016505	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63764	\N	\N	EFO	0	EFO	GM17806 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17806 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016505	\N	"" []	CLO:0016505	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204154	\N	\N	EFO	1	EFO	B cell derived cell line	GM17806 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016505	\N	"" []	CLO:0016505	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204155	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17806 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016505	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557185	\N	\N	EFO	2	EFO	cell line	GM17806 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016505	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557186	\N	\N	EFO	2	EFO	cell line	GM17806 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016505	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139668	\N	\N	EFO	3	EFO	material entity	GM17806 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016505	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022722	\N	\N	EFO	4	EFO	experimental factor	GM17806 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016506	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016506	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63765	\N	\N	EFO	0	EFO	GM17815 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17815 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016506	\N	"" []	CLO:0016506	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204156	\N	\N	EFO	1	EFO	B cell derived cell line	GM17815 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016506	\N	"" []	CLO:0016506	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204157	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17815 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016506	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557187	\N	\N	EFO	2	EFO	cell line	GM17815 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016506	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557188	\N	\N	EFO	2	EFO	cell line	GM17815 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016506	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139669	\N	\N	EFO	3	EFO	material entity	GM17815 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016506	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022723	\N	\N	EFO	4	EFO	experimental factor	GM17815 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016507	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016507	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63766	\N	\N	EFO	0	EFO	GM17813 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17813 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016507	\N	"" []	CLO:0016507	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204158	\N	\N	EFO	1	EFO	B cell derived cell line	GM17813 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016507	\N	"" []	CLO:0016507	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204159	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17813 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016507	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557189	\N	\N	EFO	2	EFO	cell line	GM17813 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016507	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557190	\N	\N	EFO	2	EFO	cell line	GM17813 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016507	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139670	\N	\N	EFO	3	EFO	material entity	GM17813 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016507	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022724	\N	\N	EFO	4	EFO	experimental factor	GM17813 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016508	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016508	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63767	\N	\N	EFO	0	EFO	GM17814 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17814 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016508	\N	"" []	CLO:0016508	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204160	\N	\N	EFO	1	EFO	B cell derived cell line	GM17814 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016508	\N	"" []	CLO:0016508	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204161	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17814 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016508	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557191	\N	\N	EFO	2	EFO	cell line	GM17814 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016508	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557192	\N	\N	EFO	2	EFO	cell line	GM17814 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016508	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139671	\N	\N	EFO	3	EFO	material entity	GM17814 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016508	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022725	\N	\N	EFO	4	EFO	experimental factor	GM17814 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016509	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016509	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63768	\N	\N	EFO	0	EFO	GM17816 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17816 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016509	\N	"" []	CLO:0016509	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204162	\N	\N	EFO	1	EFO	B cell derived cell line	GM17816 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016509	\N	"" []	CLO:0016509	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204163	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17816 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016509	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557193	\N	\N	EFO	2	EFO	cell line	GM17816 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016509	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557194	\N	\N	EFO	2	EFO	cell line	GM17816 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016509	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139672	\N	\N	EFO	3	EFO	material entity	GM17816 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016509	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022726	\N	\N	EFO	4	EFO	experimental factor	GM17816 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016510	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016510	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63769	\N	\N	EFO	0	EFO	GM17817 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17817 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016510	\N	"" []	CLO:0016510	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204164	\N	\N	EFO	1	EFO	B cell derived cell line	GM17817 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016510	\N	"" []	CLO:0016510	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204165	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17817 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016510	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557195	\N	\N	EFO	2	EFO	cell line	GM17817 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016510	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557196	\N	\N	EFO	2	EFO	cell line	GM17817 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016510	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139673	\N	\N	EFO	3	EFO	material entity	GM17817 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016510	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022727	\N	\N	EFO	4	EFO	experimental factor	GM17817 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016511	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016511	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63770	\N	\N	EFO	0	EFO	GM17818 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17818 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016511	\N	"" []	CLO:0016511	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204166	\N	\N	EFO	1	EFO	B cell derived cell line	GM17818 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016511	\N	"" []	CLO:0016511	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204167	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17818 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016511	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557197	\N	\N	EFO	2	EFO	cell line	GM17818 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016511	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557198	\N	\N	EFO	2	EFO	cell line	GM17818 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016511	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139674	\N	\N	EFO	3	EFO	material entity	GM17818 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016511	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022728	\N	\N	EFO	4	EFO	experimental factor	GM17818 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016515	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016515	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63771	\N	\N	EFO	0	EFO	GM17823 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17823 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016515	\N	"" []	CLO:0016515	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204168	\N	\N	EFO	1	EFO	B cell derived cell line	GM17823 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016515	\N	"" []	CLO:0016515	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204169	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17823 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016515	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557199	\N	\N	EFO	2	EFO	cell line	GM17823 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016515	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557200	\N	\N	EFO	2	EFO	cell line	GM17823 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016515	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139675	\N	\N	EFO	3	EFO	material entity	GM17823 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016515	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022729	\N	\N	EFO	4	EFO	experimental factor	GM17823 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016516	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016516	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63772	\N	\N	EFO	0	EFO	GM17824 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17824 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016516	\N	"" []	CLO:0016516	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204170	\N	\N	EFO	1	EFO	B cell derived cell line	GM17824 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016516	\N	"" []	CLO:0016516	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204171	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17824 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016516	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557201	\N	\N	EFO	2	EFO	cell line	GM17824 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016516	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557202	\N	\N	EFO	2	EFO	cell line	GM17824 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016516	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139676	\N	\N	EFO	3	EFO	material entity	GM17824 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016516	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022730	\N	\N	EFO	4	EFO	experimental factor	GM17824 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016517	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016517	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63773	\N	\N	EFO	0	EFO	GM17825 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17825 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016517	\N	"" []	CLO:0016517	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204172	\N	\N	EFO	1	EFO	B cell derived cell line	GM17825 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016517	\N	"" []	CLO:0016517	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204173	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17825 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016517	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557203	\N	\N	EFO	2	EFO	cell line	GM17825 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016517	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557204	\N	\N	EFO	2	EFO	cell line	GM17825 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016517	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139677	\N	\N	EFO	3	EFO	material entity	GM17825 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016517	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022731	\N	\N	EFO	4	EFO	experimental factor	GM17825 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016518	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016518	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63774	\N	\N	EFO	0	EFO	GM17826 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17826 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016518	\N	"" []	CLO:0016518	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204174	\N	\N	EFO	1	EFO	B cell derived cell line	GM17826 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016518	\N	"" []	CLO:0016518	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204175	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17826 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016518	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557205	\N	\N	EFO	2	EFO	cell line	GM17826 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016518	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557206	\N	\N	EFO	2	EFO	cell line	GM17826 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016518	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139678	\N	\N	EFO	3	EFO	material entity	GM17826 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016518	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022732	\N	\N	EFO	4	EFO	experimental factor	GM17826 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016519	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016519	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63775	\N	\N	EFO	0	EFO	GM17833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016519	\N	"" []	CLO:0016519	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204176	\N	\N	EFO	1	EFO	B cell derived cell line	GM17833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016519	\N	"" []	CLO:0016519	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204177	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016519	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557207	\N	\N	EFO	2	EFO	cell line	GM17833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016519	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557208	\N	\N	EFO	2	EFO	cell line	GM17833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016519	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139679	\N	\N	EFO	3	EFO	material entity	GM17833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016519	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022733	\N	\N	EFO	4	EFO	experimental factor	GM17833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016520	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016520	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63776	\N	\N	EFO	0	EFO	GM17835 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17835 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016520	\N	"" []	CLO:0016520	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204178	\N	\N	EFO	1	EFO	B cell derived cell line	GM17835 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016520	\N	"" []	CLO:0016520	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204179	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17835 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016520	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557209	\N	\N	EFO	2	EFO	cell line	GM17835 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016520	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557210	\N	\N	EFO	2	EFO	cell line	GM17835 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016520	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139680	\N	\N	EFO	3	EFO	material entity	GM17835 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016520	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022734	\N	\N	EFO	4	EFO	experimental factor	GM17835 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016521	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016521	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63777	\N	\N	EFO	0	EFO	GM17828 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17828 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016521	\N	"" []	CLO:0016521	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204180	\N	\N	EFO	1	EFO	B cell derived cell line	GM17828 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016521	\N	"" []	CLO:0016521	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204181	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17828 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016521	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557211	\N	\N	EFO	2	EFO	cell line	GM17828 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016521	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557212	\N	\N	EFO	2	EFO	cell line	GM17828 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016521	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139681	\N	\N	EFO	3	EFO	material entity	GM17828 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016521	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022735	\N	\N	EFO	4	EFO	experimental factor	GM17828 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016522	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016522	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63778	\N	\N	EFO	0	EFO	GM17831 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17831 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016522	\N	"" []	CLO:0016522	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204182	\N	\N	EFO	1	EFO	B cell derived cell line	GM17831 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016522	\N	"" []	CLO:0016522	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204183	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17831 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016522	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557213	\N	\N	EFO	2	EFO	cell line	GM17831 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016522	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557214	\N	\N	EFO	2	EFO	cell line	GM17831 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016522	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139682	\N	\N	EFO	3	EFO	material entity	GM17831 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016522	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022736	\N	\N	EFO	4	EFO	experimental factor	GM17831 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016523	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016523	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63779	\N	\N	EFO	0	EFO	GM17839 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17839 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016523	\N	"" []	CLO:0016523	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204184	\N	\N	EFO	1	EFO	B cell derived cell line	GM17839 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016523	\N	"" []	CLO:0016523	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204185	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17839 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016523	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557215	\N	\N	EFO	2	EFO	cell line	GM17839 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016523	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557216	\N	\N	EFO	2	EFO	cell line	GM17839 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016523	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139683	\N	\N	EFO	3	EFO	material entity	GM17839 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016523	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022737	\N	\N	EFO	4	EFO	experimental factor	GM17839 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016524	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016524	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63780	\N	\N	EFO	0	EFO	GM17840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016524	\N	"" []	CLO:0016524	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204186	\N	\N	EFO	1	EFO	B cell derived cell line	GM17840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016524	\N	"" []	CLO:0016524	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204187	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016524	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557217	\N	\N	EFO	2	EFO	cell line	GM17840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016524	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557218	\N	\N	EFO	2	EFO	cell line	GM17840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016524	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139684	\N	\N	EFO	3	EFO	material entity	GM17840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016524	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022738	\N	\N	EFO	4	EFO	experimental factor	GM17840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016525	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016525	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63781	\N	\N	EFO	0	EFO	GM17837 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17837 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016525	\N	"" []	CLO:0016525	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204188	\N	\N	EFO	1	EFO	B cell derived cell line	GM17837 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016525	\N	"" []	CLO:0016525	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204189	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17837 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016525	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557219	\N	\N	EFO	2	EFO	cell line	GM17837 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016525	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557220	\N	\N	EFO	2	EFO	cell line	GM17837 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016525	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139685	\N	\N	EFO	3	EFO	material entity	GM17837 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016525	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022739	\N	\N	EFO	4	EFO	experimental factor	GM17837 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016526	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016526	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63782	\N	\N	EFO	0	EFO	GM17838 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17838 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016526	\N	"" []	CLO:0016526	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204190	\N	\N	EFO	1	EFO	B cell derived cell line	GM17838 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016526	\N	"" []	CLO:0016526	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204191	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17838 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016526	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557221	\N	\N	EFO	2	EFO	cell line	GM17838 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016526	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557222	\N	\N	EFO	2	EFO	cell line	GM17838 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016526	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139686	\N	\N	EFO	3	EFO	material entity	GM17838 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016526	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022740	\N	\N	EFO	4	EFO	experimental factor	GM17838 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016527	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016527	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63783	\N	\N	EFO	0	EFO	GM17841 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17841 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016527	\N	"" []	CLO:0016527	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204192	\N	\N	EFO	1	EFO	B cell derived cell line	GM17841 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016527	\N	"" []	CLO:0016527	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204193	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17841 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016527	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557223	\N	\N	EFO	2	EFO	cell line	GM17841 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016527	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557224	\N	\N	EFO	2	EFO	cell line	GM17841 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016527	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139687	\N	\N	EFO	3	EFO	material entity	GM17841 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016527	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022741	\N	\N	EFO	4	EFO	experimental factor	GM17841 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016528	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016528	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63784	\N	\N	EFO	0	EFO	GM17827 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17827 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016528	\N	"" []	CLO:0016528	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204194	\N	\N	EFO	1	EFO	B cell derived cell line	GM17827 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016528	\N	"" []	CLO:0016528	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204195	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17827 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016528	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557225	\N	\N	EFO	2	EFO	cell line	GM17827 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016528	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557226	\N	\N	EFO	2	EFO	cell line	GM17827 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016528	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139688	\N	\N	EFO	3	EFO	material entity	GM17827 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016528	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022742	\N	\N	EFO	4	EFO	experimental factor	GM17827 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016554	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016554	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63785	\N	\N	EFO	0	EFO	GM17756 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17756 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016554	\N	"" []	CLO:0016554	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204196	\N	\N	EFO	1	EFO	B cell derived cell line	GM17756 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016554	\N	"" []	CLO:0016554	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204197	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17756 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016554	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557227	\N	\N	EFO	2	EFO	cell line	GM17756 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016554	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557228	\N	\N	EFO	2	EFO	cell line	GM17756 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016554	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139689	\N	\N	EFO	3	EFO	material entity	GM17756 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016554	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022743	\N	\N	EFO	4	EFO	experimental factor	GM17756 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016555	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	CLO:0016555	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	63786	\N	\N	EFO	0	EFO	GM17755 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17755 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016555	\N	"" []	CLO:0016555	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	204198	\N	\N	EFO	1	EFO	B cell derived cell line	GM17755 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016555	\N	"" []	CLO:0016555	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	204199	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17755 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016555	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	557229	\N	\N	EFO	2	EFO	cell line	GM17755 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016555	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	557230	\N	\N	EFO	2	EFO	cell line	GM17755 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016555	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	1139690	\N	\N	EFO	3	EFO	material entity	GM17755 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016555	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	2022744	\N	\N	EFO	4	EFO	experimental factor	GM17755 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016558	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	CLO:0016558	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	63787	\N	\N	EFO	0	EFO	GM17754 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17754 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016558	\N	"" []	CLO:0016558	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	204200	\N	\N	EFO	1	EFO	B cell derived cell line	GM17754 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016558	\N	"" []	CLO:0016558	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	204201	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17754 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016558	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	557231	\N	\N	EFO	2	EFO	cell line	GM17754 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016558	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	557232	\N	\N	EFO	2	EFO	cell line	GM17754 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016558	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	1139691	\N	\N	EFO	3	EFO	material entity	GM17754 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016558	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	2022745	\N	\N	EFO	4	EFO	experimental factor	GM17754 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016560	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	CLO:0016560	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	63788	\N	\N	EFO	0	EFO	GM17753 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17753 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016560	\N	"" []	CLO:0016560	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	204202	\N	\N	EFO	1	EFO	B cell derived cell line	GM17753 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016560	\N	"" []	CLO:0016560	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	204203	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17753 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016560	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	557233	\N	\N	EFO	2	EFO	cell line	GM17753 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016560	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	557234	\N	\N	EFO	2	EFO	cell line	GM17753 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016560	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	1139692	\N	\N	EFO	3	EFO	material entity	GM17753 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016560	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	2022746	\N	\N	EFO	4	EFO	experimental factor	GM17753 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016561	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016561	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63789	\N	\N	EFO	0	EFO	GM17752 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17752 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016561	\N	"" []	CLO:0016561	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204204	\N	\N	EFO	1	EFO	B cell derived cell line	GM17752 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016561	\N	"" []	CLO:0016561	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204205	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17752 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016561	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557235	\N	\N	EFO	2	EFO	cell line	GM17752 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016561	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557236	\N	\N	EFO	2	EFO	cell line	GM17752 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016561	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139693	\N	\N	EFO	3	EFO	material entity	GM17752 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016561	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022747	\N	\N	EFO	4	EFO	experimental factor	GM17752 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016564	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016564	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63790	\N	\N	EFO	0	EFO	GM17749 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17749 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016564	\N	"" []	CLO:0016564	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204206	\N	\N	EFO	1	EFO	B cell derived cell line	GM17749 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016564	\N	"" []	CLO:0016564	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204207	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17749 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016564	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557237	\N	\N	EFO	2	EFO	cell line	GM17749 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016564	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557238	\N	\N	EFO	2	EFO	cell line	GM17749 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016564	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139694	\N	\N	EFO	3	EFO	material entity	GM17749 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016564	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022748	\N	\N	EFO	4	EFO	experimental factor	GM17749 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016565	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016565	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63791	\N	\N	EFO	0	EFO	GM17747 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17747 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016565	\N	"" []	CLO:0016565	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204208	\N	\N	EFO	1	EFO	B cell derived cell line	GM17747 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016565	\N	"" []	CLO:0016565	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204209	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17747 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016565	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557239	\N	\N	EFO	2	EFO	cell line	GM17747 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016565	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557240	\N	\N	EFO	2	EFO	cell line	GM17747 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016565	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139695	\N	\N	EFO	3	EFO	material entity	GM17747 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016565	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022749	\N	\N	EFO	4	EFO	experimental factor	GM17747 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016566	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016566	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63792	\N	\N	EFO	0	EFO	GM17746 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17746 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016566	\N	"" []	CLO:0016566	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204210	\N	\N	EFO	1	EFO	B cell derived cell line	GM17746 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016566	\N	"" []	CLO:0016566	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204211	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17746 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016566	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557241	\N	\N	EFO	2	EFO	cell line	GM17746 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016566	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557242	\N	\N	EFO	2	EFO	cell line	GM17746 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016566	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139696	\N	\N	EFO	3	EFO	material entity	GM17746 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016566	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022750	\N	\N	EFO	4	EFO	experimental factor	GM17746 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016567	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016567	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63793	\N	\N	EFO	0	EFO	GM17745 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17745 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016567	\N	"" []	CLO:0016567	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204212	\N	\N	EFO	1	EFO	B cell derived cell line	GM17745 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016567	\N	"" []	CLO:0016567	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204213	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17745 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016567	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557243	\N	\N	EFO	2	EFO	cell line	GM17745 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016567	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557244	\N	\N	EFO	2	EFO	cell line	GM17745 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016567	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139697	\N	\N	EFO	3	EFO	material entity	GM17745 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016567	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022751	\N	\N	EFO	4	EFO	experimental factor	GM17745 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016568	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016568	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63794	\N	\N	EFO	0	EFO	GM17744 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17744 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016568	\N	"" []	CLO:0016568	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204214	\N	\N	EFO	1	EFO	B cell derived cell line	GM17744 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016568	\N	"" []	CLO:0016568	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204215	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17744 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016568	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557245	\N	\N	EFO	2	EFO	cell line	GM17744 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016568	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557246	\N	\N	EFO	2	EFO	cell line	GM17744 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016568	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139698	\N	\N	EFO	3	EFO	material entity	GM17744 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016568	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022752	\N	\N	EFO	4	EFO	experimental factor	GM17744 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016593	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016593	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63795	\N	\N	EFO	0	EFO	GM17767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016593	\N	"" []	CLO:0016593	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204216	\N	\N	EFO	1	EFO	B cell derived cell line	GM17767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016593	\N	"" []	CLO:0016593	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204217	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016593	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557247	\N	\N	EFO	2	EFO	cell line	GM17767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016593	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557248	\N	\N	EFO	2	EFO	cell line	GM17767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016593	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139699	\N	\N	EFO	3	EFO	material entity	GM17767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016593	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022753	\N	\N	EFO	4	EFO	experimental factor	GM17767 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016594	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016594	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63796	\N	\N	EFO	0	EFO	GM17766 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17766 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016594	\N	"" []	CLO:0016594	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204218	\N	\N	EFO	1	EFO	B cell derived cell line	GM17766 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016594	\N	"" []	CLO:0016594	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204219	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17766 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016594	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557249	\N	\N	EFO	2	EFO	cell line	GM17766 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016594	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557250	\N	\N	EFO	2	EFO	cell line	GM17766 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016594	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139700	\N	\N	EFO	3	EFO	material entity	GM17766 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016594	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022754	\N	\N	EFO	4	EFO	experimental factor	GM17766 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016597	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016597	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63797	\N	\N	EFO	0	EFO	GM17768 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17768 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016597	\N	"" []	CLO:0016597	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204220	\N	\N	EFO	1	EFO	B cell derived cell line	GM17768 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016597	\N	"" []	CLO:0016597	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204221	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17768 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016597	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557251	\N	\N	EFO	2	EFO	cell line	GM17768 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016597	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557252	\N	\N	EFO	2	EFO	cell line	GM17768 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016597	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139701	\N	\N	EFO	3	EFO	material entity	GM17768 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016597	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022755	\N	\N	EFO	4	EFO	experimental factor	GM17768 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016600	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016600	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63798	\N	\N	EFO	0	EFO	GM17762 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17762 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016600	\N	"" []	CLO:0016600	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204222	\N	\N	EFO	1	EFO	B cell derived cell line	GM17762 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016600	\N	"" []	CLO:0016600	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204223	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17762 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016600	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557253	\N	\N	EFO	2	EFO	cell line	GM17762 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016600	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557254	\N	\N	EFO	2	EFO	cell line	GM17762 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016600	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139702	\N	\N	EFO	3	EFO	material entity	GM17762 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016600	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022756	\N	\N	EFO	4	EFO	experimental factor	GM17762 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016601	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	CLO:0016601	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	63799	\N	\N	EFO	0	EFO	GM17761 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17761 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016601	\N	"" []	CLO:0016601	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	204224	\N	\N	EFO	1	EFO	B cell derived cell line	GM17761 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016601	\N	"" []	CLO:0016601	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	204225	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17761 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016601	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	557255	\N	\N	EFO	2	EFO	cell line	GM17761 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016601	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	557256	\N	\N	EFO	2	EFO	cell line	GM17761 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016601	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	1139703	\N	\N	EFO	3	EFO	material entity	GM17761 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016601	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	2022757	\N	\N	EFO	4	EFO	experimental factor	GM17761 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016602	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016602	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63800	\N	\N	EFO	0	EFO	GM17765 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17765 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016602	\N	"" []	CLO:0016602	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204226	\N	\N	EFO	1	EFO	B cell derived cell line	GM17765 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016602	\N	"" []	CLO:0016602	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204227	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17765 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016602	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557257	\N	\N	EFO	2	EFO	cell line	GM17765 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016602	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557258	\N	\N	EFO	2	EFO	cell line	GM17765 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016602	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139704	\N	\N	EFO	3	EFO	material entity	GM17765 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016602	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022758	\N	\N	EFO	4	EFO	experimental factor	GM17765 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016604	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016604	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63801	\N	\N	EFO	0	EFO	GM17764 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17764 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016604	\N	"" []	CLO:0016604	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204228	\N	\N	EFO	1	EFO	B cell derived cell line	GM17764 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016604	\N	"" []	CLO:0016604	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204229	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17764 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016604	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557259	\N	\N	EFO	2	EFO	cell line	GM17764 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016604	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557260	\N	\N	EFO	2	EFO	cell line	GM17764 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016604	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139705	\N	\N	EFO	3	EFO	material entity	GM17764 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016604	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022759	\N	\N	EFO	4	EFO	experimental factor	GM17764 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016606	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	CLO:0016606	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	63802	\N	\N	EFO	0	EFO	GM17757 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17757 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016606	\N	"" []	CLO:0016606	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	204230	\N	\N	EFO	1	EFO	B cell derived cell line	GM17757 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016606	\N	"" []	CLO:0016606	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	204231	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17757 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016606	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	557261	\N	\N	EFO	2	EFO	cell line	GM17757 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016606	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	557262	\N	\N	EFO	2	EFO	cell line	GM17757 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016606	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	1139706	\N	\N	EFO	3	EFO	material entity	GM17757 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016606	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	2022760	\N	\N	EFO	4	EFO	experimental factor	GM17757 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016607	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	CLO:0016607	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	63803	\N	\N	EFO	0	EFO	GM17759 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17759 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016607	\N	"" []	CLO:0016607	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	204232	\N	\N	EFO	1	EFO	B cell derived cell line	GM17759 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016607	\N	"" []	CLO:0016607	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	204233	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17759 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016607	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	557263	\N	\N	EFO	2	EFO	cell line	GM17759 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016607	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	557264	\N	\N	EFO	2	EFO	cell line	GM17759 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016607	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	1139707	\N	\N	EFO	3	EFO	material entity	GM17759 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016607	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	2022761	\N	\N	EFO	4	EFO	experimental factor	GM17759 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016608	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016608	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63804	\N	\N	EFO	0	EFO	GM17758 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17758 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016608	\N	"" []	CLO:0016608	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204234	\N	\N	EFO	1	EFO	B cell derived cell line	GM17758 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016608	\N	"" []	CLO:0016608	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204235	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17758 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016608	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557265	\N	\N	EFO	2	EFO	cell line	GM17758 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016608	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557266	\N	\N	EFO	2	EFO	cell line	GM17758 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016608	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139708	\N	\N	EFO	3	EFO	material entity	GM17758 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016608	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022762	\N	\N	EFO	4	EFO	experimental factor	GM17758 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016635	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016635	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63805	\N	\N	EFO	0	EFO	GM17779 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17779 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016635	\N	"" []	CLO:0016635	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204236	\N	\N	EFO	1	EFO	B cell derived cell line	GM17779 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016635	\N	"" []	CLO:0016635	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204237	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17779 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016635	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557267	\N	\N	EFO	2	EFO	cell line	GM17779 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016635	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557268	\N	\N	EFO	2	EFO	cell line	GM17779 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016635	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139709	\N	\N	EFO	3	EFO	material entity	GM17779 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016635	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022763	\N	\N	EFO	4	EFO	experimental factor	GM17779 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016636	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016636	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63806	\N	\N	EFO	0	EFO	GM17776 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17776 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016636	\N	"" []	CLO:0016636	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204238	\N	\N	EFO	1	EFO	B cell derived cell line	GM17776 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016636	\N	"" []	CLO:0016636	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204239	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17776 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016636	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557269	\N	\N	EFO	2	EFO	cell line	GM17776 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016636	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557270	\N	\N	EFO	2	EFO	cell line	GM17776 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016636	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139710	\N	\N	EFO	3	EFO	material entity	GM17776 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016636	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022764	\N	\N	EFO	4	EFO	experimental factor	GM17776 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016638	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016638	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63807	\N	\N	EFO	0	EFO	GM17775 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17775 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016638	\N	"" []	CLO:0016638	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204240	\N	\N	EFO	1	EFO	B cell derived cell line	GM17775 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016638	\N	"" []	CLO:0016638	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204241	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17775 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016638	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557271	\N	\N	EFO	2	EFO	cell line	GM17775 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016638	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557272	\N	\N	EFO	2	EFO	cell line	GM17775 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016638	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139711	\N	\N	EFO	3	EFO	material entity	GM17775 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016638	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022765	\N	\N	EFO	4	EFO	experimental factor	GM17775 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016641	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016641	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63808	\N	\N	EFO	0	EFO	GM17774 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17774 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016641	\N	"" []	CLO:0016641	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204242	\N	\N	EFO	1	EFO	B cell derived cell line	GM17774 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016641	\N	"" []	CLO:0016641	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204243	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17774 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016641	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557273	\N	\N	EFO	2	EFO	cell line	GM17774 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016641	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557274	\N	\N	EFO	2	EFO	cell line	GM17774 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016641	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139712	\N	\N	EFO	3	EFO	material entity	GM17774 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016641	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022766	\N	\N	EFO	4	EFO	experimental factor	GM17774 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016642	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016642	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63809	\N	\N	EFO	0	EFO	GM17782 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17782 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016642	\N	"" []	CLO:0016642	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204244	\N	\N	EFO	1	EFO	B cell derived cell line	GM17782 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016642	\N	"" []	CLO:0016642	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204245	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17782 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016642	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557275	\N	\N	EFO	2	EFO	cell line	GM17782 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016642	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557276	\N	\N	EFO	2	EFO	cell line	GM17782 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016642	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139713	\N	\N	EFO	3	EFO	material entity	GM17782 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016642	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022767	\N	\N	EFO	4	EFO	experimental factor	GM17782 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016643	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016643	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63810	\N	\N	EFO	0	EFO	GM17780 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17780 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016643	\N	"" []	CLO:0016643	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204246	\N	\N	EFO	1	EFO	B cell derived cell line	GM17780 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016643	\N	"" []	CLO:0016643	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204247	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17780 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016643	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557277	\N	\N	EFO	2	EFO	cell line	GM17780 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016643	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557278	\N	\N	EFO	2	EFO	cell line	GM17780 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016643	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139714	\N	\N	EFO	3	EFO	material entity	GM17780 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016643	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022768	\N	\N	EFO	4	EFO	experimental factor	GM17780 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016645	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016645	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63811	\N	\N	EFO	0	EFO	GM17773 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17773 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016645	\N	"" []	CLO:0016645	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204248	\N	\N	EFO	1	EFO	B cell derived cell line	GM17773 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016645	\N	"" []	CLO:0016645	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204249	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17773 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016645	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557279	\N	\N	EFO	2	EFO	cell line	GM17773 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016645	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557280	\N	\N	EFO	2	EFO	cell line	GM17773 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016645	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139715	\N	\N	EFO	3	EFO	material entity	GM17773 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016645	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022769	\N	\N	EFO	4	EFO	experimental factor	GM17773 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016646	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016646	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63812	\N	\N	EFO	0	EFO	GM17771 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17771 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016646	\N	"" []	CLO:0016646	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204250	\N	\N	EFO	1	EFO	B cell derived cell line	GM17771 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016646	\N	"" []	CLO:0016646	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204251	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17771 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016646	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557281	\N	\N	EFO	2	EFO	cell line	GM17771 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016646	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557282	\N	\N	EFO	2	EFO	cell line	GM17771 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016646	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139716	\N	\N	EFO	3	EFO	material entity	GM17771 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016646	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022770	\N	\N	EFO	4	EFO	experimental factor	GM17771 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016647	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016647	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63813	\N	\N	EFO	0	EFO	GM17770 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17770 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016647	\N	"" []	CLO:0016647	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204252	\N	\N	EFO	1	EFO	B cell derived cell line	GM17770 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016647	\N	"" []	CLO:0016647	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204253	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17770 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016647	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557283	\N	\N	EFO	2	EFO	cell line	GM17770 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016647	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557284	\N	\N	EFO	2	EFO	cell line	GM17770 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016647	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139717	\N	\N	EFO	3	EFO	material entity	GM17770 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016647	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022771	\N	\N	EFO	4	EFO	experimental factor	GM17770 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016648	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016648	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63814	\N	\N	EFO	0	EFO	GM17769 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17769 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016648	\N	"" []	CLO:0016648	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204254	\N	\N	EFO	1	EFO	B cell derived cell line	GM17769 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016648	\N	"" []	CLO:0016648	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204255	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17769 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016648	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557285	\N	\N	EFO	2	EFO	cell line	GM17769 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016648	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557286	\N	\N	EFO	2	EFO	cell line	GM17769 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016648	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139718	\N	\N	EFO	3	EFO	material entity	GM17769 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016648	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022772	\N	\N	EFO	4	EFO	experimental factor	GM17769 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016672	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016672	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63815	\N	\N	EFO	0	EFO	GM17792 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17792 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016672	\N	"" []	CLO:0016672	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204256	\N	\N	EFO	1	EFO	B cell derived cell line	GM17792 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016672	\N	"" []	CLO:0016672	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204257	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17792 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016672	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557287	\N	\N	EFO	2	EFO	cell line	GM17792 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016672	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557288	\N	\N	EFO	2	EFO	cell line	GM17792 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016672	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139719	\N	\N	EFO	3	EFO	material entity	GM17792 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016672	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022773	\N	\N	EFO	4	EFO	experimental factor	GM17792 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016675	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016675	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63816	\N	\N	EFO	0	EFO	GM17791 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17791 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016675	\N	"" []	CLO:0016675	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204258	\N	\N	EFO	1	EFO	B cell derived cell line	GM17791 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016675	\N	"" []	CLO:0016675	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204259	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17791 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016675	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557289	\N	\N	EFO	2	EFO	cell line	GM17791 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016675	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557290	\N	\N	EFO	2	EFO	cell line	GM17791 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016675	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139720	\N	\N	EFO	3	EFO	material entity	GM17791 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016675	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022774	\N	\N	EFO	4	EFO	experimental factor	GM17791 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016676	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016676	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63817	\N	\N	EFO	0	EFO	GM17794 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17794 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016676	\N	"" []	CLO:0016676	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204260	\N	\N	EFO	1	EFO	B cell derived cell line	GM17794 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016676	\N	"" []	CLO:0016676	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204261	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17794 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016676	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557291	\N	\N	EFO	2	EFO	cell line	GM17794 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016676	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557292	\N	\N	EFO	2	EFO	cell line	GM17794 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016676	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139721	\N	\N	EFO	3	EFO	material entity	GM17794 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016676	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022775	\N	\N	EFO	4	EFO	experimental factor	GM17794 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016678	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016678	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63818	\N	\N	EFO	0	EFO	GM17793 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17793 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016678	\N	"" []	CLO:0016678	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204262	\N	\N	EFO	1	EFO	B cell derived cell line	GM17793 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016678	\N	"" []	CLO:0016678	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204263	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17793 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016678	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557293	\N	\N	EFO	2	EFO	cell line	GM17793 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016678	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557294	\N	\N	EFO	2	EFO	cell line	GM17793 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016678	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139722	\N	\N	EFO	3	EFO	material entity	GM17793 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016678	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022776	\N	\N	EFO	4	EFO	experimental factor	GM17793 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016682	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016682	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63819	\N	\N	EFO	0	EFO	GM17795 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17795 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016682	\N	"" []	CLO:0016682	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204264	\N	\N	EFO	1	EFO	B cell derived cell line	GM17795 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016682	\N	"" []	CLO:0016682	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204265	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17795 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016682	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557295	\N	\N	EFO	2	EFO	cell line	GM17795 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016682	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557296	\N	\N	EFO	2	EFO	cell line	GM17795 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016682	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139723	\N	\N	EFO	3	EFO	material entity	GM17795 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016682	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022777	\N	\N	EFO	4	EFO	experimental factor	GM17795 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016684	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016684	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63820	\N	\N	EFO	0	EFO	GM17783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016684	\N	"" []	CLO:0016684	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204266	\N	\N	EFO	1	EFO	B cell derived cell line	GM17783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016684	\N	"" []	CLO:0016684	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204267	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016684	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557297	\N	\N	EFO	2	EFO	cell line	GM17783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016684	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557298	\N	\N	EFO	2	EFO	cell line	GM17783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016684	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139724	\N	\N	EFO	3	EFO	material entity	GM17783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016684	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022778	\N	\N	EFO	4	EFO	experimental factor	GM17783 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016685	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016685	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63821	\N	\N	EFO	0	EFO	GM17787 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17787 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016685	\N	"" []	CLO:0016685	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204268	\N	\N	EFO	1	EFO	B cell derived cell line	GM17787 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016685	\N	"" []	CLO:0016685	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204269	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17787 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016685	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557299	\N	\N	EFO	2	EFO	cell line	GM17787 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016685	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557300	\N	\N	EFO	2	EFO	cell line	GM17787 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016685	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139725	\N	\N	EFO	3	EFO	material entity	GM17787 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016685	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022779	\N	\N	EFO	4	EFO	experimental factor	GM17787 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016686	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016686	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63822	\N	\N	EFO	0	EFO	GM17785 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17785 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016686	\N	"" []	CLO:0016686	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204270	\N	\N	EFO	1	EFO	B cell derived cell line	GM17785 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016686	\N	"" []	CLO:0016686	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204271	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17785 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016686	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557301	\N	\N	EFO	2	EFO	cell line	GM17785 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016686	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557302	\N	\N	EFO	2	EFO	cell line	GM17785 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016686	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139726	\N	\N	EFO	3	EFO	material entity	GM17785 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016686	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022780	\N	\N	EFO	4	EFO	experimental factor	GM17785 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016687	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016687	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63823	\N	\N	EFO	0	EFO	GM17790 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17790 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016687	\N	"" []	CLO:0016687	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204272	\N	\N	EFO	1	EFO	B cell derived cell line	GM17790 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016687	\N	"" []	CLO:0016687	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204273	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17790 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016687	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557303	\N	\N	EFO	2	EFO	cell line	GM17790 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016687	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557304	\N	\N	EFO	2	EFO	cell line	GM17790 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016687	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139727	\N	\N	EFO	3	EFO	material entity	GM17790 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016687	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022781	\N	\N	EFO	4	EFO	experimental factor	GM17790 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016688	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0016688	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63824	\N	\N	EFO	0	EFO	GM17789 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17789 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016688	\N	"" []	CLO:0016688	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204274	\N	\N	EFO	1	EFO	B cell derived cell line	GM17789 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016688	\N	"" []	CLO:0016688	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204275	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17789 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016688	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557305	\N	\N	EFO	2	EFO	cell line	GM17789 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016688	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557306	\N	\N	EFO	2	EFO	cell line	GM17789 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016688	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139728	\N	\N	EFO	3	EFO	material entity	GM17789 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016688	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022782	\N	\N	EFO	4	EFO	experimental factor	GM17789 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016951	\N	\N	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 SNP500 PANEL HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 CEPH/UTAH PEDIGREE 1345" []	CLO:0016951	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 SNP500 PANEL HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 CEPH/UTAH PEDIGREE 1345" []	63825	\N	\N	EFO	0	EFO	GM07348 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM07348 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016951	\N	"" []	CLO:0016951	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 SNP500 PANEL HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 CEPH/UTAH PEDIGREE 1345" []	204276	\N	\N	EFO	1	EFO	B cell derived cell line	GM07348 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016951	\N	"" []	CLO:0016951	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 SNP500 PANEL HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 CEPH/UTAH PEDIGREE 1345" []	204277	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM07348 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016951	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 SNP500 PANEL HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 CEPH/UTAH PEDIGREE 1345" []	557307	\N	\N	EFO	2	EFO	cell line	GM07348 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016951	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 SNP500 PANEL HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 CEPH/UTAH PEDIGREE 1345" []	557308	\N	\N	EFO	2	EFO	cell line	GM07348 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016951	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 SNP500 PANEL HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 CEPH/UTAH PEDIGREE 1345" []	1139729	\N	\N	EFO	3	EFO	material entity	GM07348 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016951	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 SNP500 PANEL HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 CEPH/UTAH PEDIGREE 1345" []	2022783	\N	\N	EFO	4	EFO	experimental factor	GM07348 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0016995	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	CLO:0016995	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	63826	\N	\N	EFO	0	EFO	GM17733 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17733 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0016995	\N	"" []	CLO:0016995	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	204278	\N	\N	EFO	1	EFO	B cell derived cell line	GM17733 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0016995	\N	"" []	CLO:0016995	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	204279	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17733 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016995	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	557309	\N	\N	EFO	2	EFO	cell line	GM17733 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0016995	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	557310	\N	\N	EFO	2	EFO	cell line	GM17733 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0016995	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	1139730	\N	\N	EFO	3	EFO	material entity	GM17733 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0016995	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	2022784	\N	\N	EFO	4	EFO	experimental factor	GM17733 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0017020	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	CLO:0017020	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	63827	\N	\N	EFO	0	EFO	GM17741 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17741 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0017020	\N	"" []	CLO:0017020	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	204280	\N	\N	EFO	1	EFO	B cell derived cell line	GM17741 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0017020	\N	"" []	CLO:0017020	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	204281	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17741 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017020	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	557311	\N	\N	EFO	2	EFO	cell line	GM17741 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017020	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	557312	\N	\N	EFO	2	EFO	cell line	GM17741 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0017020	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	1139731	\N	\N	EFO	3	EFO	material entity	GM17741 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0017020	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	2022785	\N	\N	EFO	4	EFO	experimental factor	GM17741 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0017021	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	CLO:0017021	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	63828	\N	\N	EFO	0	EFO	GM17740 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17740 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0017021	\N	"" []	CLO:0017021	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	204282	\N	\N	EFO	1	EFO	B cell derived cell line	GM17740 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0017021	\N	"" []	CLO:0017021	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	204283	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17740 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017021	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	557313	\N	\N	EFO	2	EFO	cell line	GM17740 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017021	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	557314	\N	\N	EFO	2	EFO	cell line	GM17740 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0017021	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	1139732	\N	\N	EFO	3	EFO	material entity	GM17740 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0017021	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	2022786	\N	\N	EFO	4	EFO	experimental factor	GM17740 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0017022	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	CLO:0017022	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	63829	\N	\N	EFO	0	EFO	GM17739 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17739 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0017022	\N	"" []	CLO:0017022	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	204284	\N	\N	EFO	1	EFO	B cell derived cell line	GM17739 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0017022	\N	"" []	CLO:0017022	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	204285	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17739 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017022	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	557315	\N	\N	EFO	2	EFO	cell line	GM17739 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017022	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	557316	\N	\N	EFO	2	EFO	cell line	GM17739 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0017022	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	1139733	\N	\N	EFO	3	EFO	material entity	GM17739 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0017022	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24" []	2022787	\N	\N	EFO	4	EFO	experimental factor	GM17739 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0017023	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0017023	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63830	\N	\N	EFO	0	EFO	GM17738 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17738 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0017023	\N	"" []	CLO:0017023	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204286	\N	\N	EFO	1	EFO	B cell derived cell line	GM17738 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0017023	\N	"" []	CLO:0017023	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204287	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17738 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017023	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557317	\N	\N	EFO	2	EFO	cell line	GM17738 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017023	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557318	\N	\N	EFO	2	EFO	cell line	GM17738 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0017023	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139734	\N	\N	EFO	3	EFO	material entity	GM17738 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0017023	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022788	\N	\N	EFO	4	EFO	experimental factor	GM17738 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0017024	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0017024	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63831	\N	\N	EFO	0	EFO	GM17743 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17743 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0017024	\N	"" []	CLO:0017024	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204288	\N	\N	EFO	1	EFO	B cell derived cell line	GM17743 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0017024	\N	"" []	CLO:0017024	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204289	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17743 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017024	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557319	\N	\N	EFO	2	EFO	cell line	GM17743 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017024	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557320	\N	\N	EFO	2	EFO	cell line	GM17743 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0017024	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139735	\N	\N	EFO	3	EFO	material entity	GM17743 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0017024	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022789	\N	\N	EFO	4	EFO	experimental factor	GM17743 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0017025	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	CLO:0017025	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	63832	\N	\N	EFO	0	EFO	GM17742 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17742 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0017025	\N	"" []	CLO:0017025	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204290	\N	\N	EFO	1	EFO	B cell derived cell line	GM17742 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0017025	\N	"" []	CLO:0017025	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	204291	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17742 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017025	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557321	\N	\N	EFO	2	EFO	cell line	GM17742 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017025	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	557322	\N	\N	EFO	2	EFO	cell line	GM17742 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0017025	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	1139736	\N	\N	EFO	3	EFO	material entity	GM17742 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0017025	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" []	2022790	\N	\N	EFO	4	EFO	experimental factor	GM17742 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0017043	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	CLO:0017043	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	63833	\N	\N	EFO	0	EFO	GM17736 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17736 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0017043	\N	"" []	CLO:0017043	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	204292	\N	\N	EFO	1	EFO	B cell derived cell line	GM17736 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0017043	\N	"" []	CLO:0017043	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	204293	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17736 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017043	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	557323	\N	\N	EFO	2	EFO	cell line	GM17736 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017043	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	557324	\N	\N	EFO	2	EFO	cell line	GM17736 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0017043	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	1139737	\N	\N	EFO	3	EFO	material entity	GM17736 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0017043	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	2022791	\N	\N	EFO	4	EFO	experimental factor	GM17736 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0017044	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	CLO:0017044	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	63834	\N	\N	EFO	0	EFO	GM17737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0017044	\N	"" []	CLO:0017044	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	204294	\N	\N	EFO	1	EFO	B cell derived cell line	GM17737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0017044	\N	"" []	CLO:0017044	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	204295	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017044	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	557325	\N	\N	EFO	2	EFO	cell line	GM17737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017044	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	557326	\N	\N	EFO	2	EFO	cell line	GM17737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0017044	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	1139738	\N	\N	EFO	3	EFO	material entity	GM17737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0017044	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" []	2022792	\N	\N	EFO	4	EFO	experimental factor	GM17737 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0017045	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	CLO:0017045	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	63835	\N	\N	EFO	0	EFO	GM17734 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17734 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0017045	\N	"" []	CLO:0017045	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	204296	\N	\N	EFO	1	EFO	B cell derived cell line	GM17734 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0017045	\N	"" []	CLO:0017045	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	204297	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17734 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017045	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	557327	\N	\N	EFO	2	EFO	cell line	GM17734 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017045	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	557328	\N	\N	EFO	2	EFO	cell line	GM17734 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0017045	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	1139739	\N	\N	EFO	3	EFO	material entity	GM17734 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0017045	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	2022793	\N	\N	EFO	4	EFO	experimental factor	GM17734 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0017046	\N	\N	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	CLO:0017046	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	63836	\N	\N	EFO	0	EFO	GM17735 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM17735 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0017046	\N	"" []	CLO:0017046	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	204298	\N	\N	EFO	1	EFO	B cell derived cell line	GM17735 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0017046	\N	"" []	CLO:0017046	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	204299	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM17735 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017046	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	557329	\N	\N	EFO	2	EFO	cell line	GM17735 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0017046	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	557330	\N	\N	EFO	2	EFO	cell line	GM17735 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0017046	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	1139740	\N	\N	EFO	3	EFO	material entity	GM17735 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0017046	"HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16" []	2022794	\N	\N	EFO	4	EFO	experimental factor	GM17735 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0018566	\N	\N	"LATE ONSET PARKINSON'S DNA PANEL, AFFECTED INDIVIDUALS PARKINSON'S DISEASE" []	CLO:0018566	"LATE ONSET PARKINSON'S DNA PANEL, AFFECTED INDIVIDUALS PARKINSON'S DISEASE" []	63837	\N	\N	EFO	0	EFO	ND06449 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND06449 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0018566	\N	"" []	CLO:0018566	"LATE ONSET PARKINSON'S DNA PANEL, AFFECTED INDIVIDUALS PARKINSON'S DISEASE" []	204300	\N	\N	EFO	1	EFO	B cell derived cell line	ND06449 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0018566	\N	"" []	CLO:0018566	"LATE ONSET PARKINSON'S DNA PANEL, AFFECTED INDIVIDUALS PARKINSON'S DISEASE" []	204301	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND06449 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0018566	"LATE ONSET PARKINSON'S DNA PANEL, AFFECTED INDIVIDUALS PARKINSON'S DISEASE" []	557331	\N	\N	EFO	2	EFO	cell line	ND06449 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0018566	"LATE ONSET PARKINSON'S DNA PANEL, AFFECTED INDIVIDUALS PARKINSON'S DISEASE" []	557332	\N	\N	EFO	2	EFO	cell line	ND06449 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0018566	"LATE ONSET PARKINSON'S DNA PANEL, AFFECTED INDIVIDUALS PARKINSON'S DISEASE" []	1139741	\N	\N	EFO	3	EFO	material entity	ND06449 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0018566	"LATE ONSET PARKINSON'S DNA PANEL, AFFECTED INDIVIDUALS PARKINSON'S DISEASE" []	2022795	\N	\N	EFO	4	EFO	experimental factor	ND06449 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0019004	\N	\N	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1375 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	CLO:0019004	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1375 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	63838	\N	\N	EFO	0	EFO	GM12264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM12264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0019004	\N	"" []	CLO:0019004	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1375 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	204302	\N	\N	EFO	1	EFO	B cell derived cell line	GM12264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0019004	\N	"" []	CLO:0019004	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1375 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	204303	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0019004	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1375 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	557333	\N	\N	EFO	2	EFO	cell line	GM12264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0019004	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1375 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	557334	\N	\N	EFO	2	EFO	cell line	GM12264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0019004	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1375 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	1139742	\N	\N	EFO	3	EFO	material entity	GM12264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0019004	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1375 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	2022796	\N	\N	EFO	4	EFO	experimental factor	GM12264 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0020019	\N	\N	"CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	CLO:0020019	"CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	63839	\N	\N	EFO	0	EFO	GM11840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM11840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0020019	\N	"" []	CLO:0020019	"CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	204304	\N	\N	EFO	1	EFO	B cell derived cell line	GM11840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0020019	\N	"" []	CLO:0020019	"CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	204305	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM11840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0020019	"CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	557335	\N	\N	EFO	2	EFO	cell line	GM11840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0020019	"CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	557336	\N	\N	EFO	2	EFO	cell line	GM11840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0020019	"CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	1139743	\N	\N	EFO	3	EFO	material entity	GM11840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0020019	"CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	2022797	\N	\N	EFO	4	EFO	experimental factor	GM11840 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0021459	\N	\N	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	CLO:0021459	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	63840	\N	\N	EFO	0	EFO	AG10941 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG10941 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0021459	\N	"" []	CLO:0021459	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204306	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG10941 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0021459	\N	"" []	CLO:0021459	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204307	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG10941 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0021459	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557337	\N	\N	EFO	2	EFO	cell line	AG10941 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0021459	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557338	\N	\N	EFO	2	EFO	cell line	AG10941 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0021459	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	1139744	\N	\N	EFO	3	EFO	material entity	AG10941 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0021459	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	2022798	\N	\N	EFO	4	EFO	experimental factor	AG10941 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0021565	\N	\N	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	CLO:0021565	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	63841	\N	\N	EFO	0	EFO	AG11498 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG11498 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0021565	\N	"" []	CLO:0021565	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	204308	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG11498 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0021565	\N	"" []	CLO:0021565	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	204309	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG11498 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0021565	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	557339	\N	\N	EFO	2	EFO	cell line	AG11498 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0021565	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	557340	\N	\N	EFO	2	EFO	cell line	AG11498 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0021565	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	1139745	\N	\N	EFO	3	EFO	material entity	AG11498 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0021565	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	2022799	\N	\N	EFO	4	EFO	experimental factor	AG11498 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0021597	\N	\N	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	CLO:0021597	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	63842	\N	\N	EFO	0	EFO	AG11364 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG11364 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0021597	\N	"" []	CLO:0021597	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204310	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG11364 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0021597	\N	"" []	CLO:0021597	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204311	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG11364 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0021597	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557341	\N	\N	EFO	2	EFO	cell line	AG11364 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0021597	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557342	\N	\N	EFO	2	EFO	cell line	AG11364 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0021597	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	1139746	\N	\N	EFO	3	EFO	material entity	AG11364 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0021597	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	2022800	\N	\N	EFO	4	EFO	experimental factor	AG11364 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0021875	\N	\N	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	CLO:0021875	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	63843	\N	\N	EFO	0	EFO	AG10049 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG10049 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0021875	\N	"" []	CLO:0021875	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204312	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG10049 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0021875	\N	"" []	CLO:0021875	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204313	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG10049 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0021875	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557343	\N	\N	EFO	2	EFO	cell line	AG10049 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0021875	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557344	\N	\N	EFO	2	EFO	cell line	AG10049 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0021875	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	1139747	\N	\N	EFO	3	EFO	material entity	AG10049 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0021875	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	2022801	\N	\N	EFO	4	EFO	experimental factor	AG10049 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0021913	\N	\N	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	CLO:0021913	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	63844	\N	\N	EFO	0	EFO	AG09699 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG09699 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0021913	\N	"" []	CLO:0021913	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204314	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG09699 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0021913	\N	"" []	CLO:0021913	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204315	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG09699 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0021913	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557345	\N	\N	EFO	2	EFO	cell line	AG09699 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0021913	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557346	\N	\N	EFO	2	EFO	cell line	AG09699 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0021913	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	1139748	\N	\N	EFO	3	EFO	material entity	AG09699 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0021913	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	2022802	\N	\N	EFO	4	EFO	experimental factor	AG09699 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0021943	\N	\N	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	CLO:0021943	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	63845	\N	\N	EFO	0	EFO	AG09877 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG09877 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0021943	\N	"" []	CLO:0021943	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204316	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG09877 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0021943	\N	"" []	CLO:0021943	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204317	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG09877 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0021943	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557347	\N	\N	EFO	2	EFO	cell line	AG09877 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0021943	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557348	\N	\N	EFO	2	EFO	cell line	AG09877 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0021943	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	1139749	\N	\N	EFO	3	EFO	material entity	AG09877 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0021943	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	2022803	\N	\N	EFO	4	EFO	experimental factor	AG09877 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0022101	\N	\N	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	CLO:0022101	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	63846	\N	\N	EFO	0	EFO	AG13150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG13150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0022101	\N	"" []	CLO:0022101	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204318	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG13150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0022101	\N	"" []	CLO:0022101	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204319	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG13150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022101	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557349	\N	\N	EFO	2	EFO	cell line	AG13150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022101	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557350	\N	\N	EFO	2	EFO	cell line	AG13150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0022101	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	1139750	\N	\N	EFO	3	EFO	material entity	AG13150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0022101	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	2022804	\N	\N	EFO	4	EFO	experimental factor	AG13150 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0022107	\N	\N	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	CLO:0022107	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	63847	\N	\N	EFO	0	EFO	AG13145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG13145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0022107	\N	"" []	CLO:0022107	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204320	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG13145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0022107	\N	"" []	CLO:0022107	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204321	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG13145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022107	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557351	\N	\N	EFO	2	EFO	cell line	AG13145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022107	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557352	\N	\N	EFO	2	EFO	cell line	AG13145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0022107	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	1139751	\N	\N	EFO	3	EFO	material entity	AG13145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0022107	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	2022805	\N	\N	EFO	4	EFO	experimental factor	AG13145 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0022132	\N	\N	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	CLO:0022132	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	63848	\N	\N	EFO	0	EFO	AG13066 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG13066 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0022132	\N	"" []	CLO:0022132	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204322	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG13066 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0022132	\N	"" []	CLO:0022132	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204323	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG13066 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022132	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557353	\N	\N	EFO	2	EFO	cell line	AG13066 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022132	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557354	\N	\N	EFO	2	EFO	cell line	AG13066 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0022132	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	1139752	\N	\N	EFO	3	EFO	material entity	AG13066 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0022132	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	2022806	\N	\N	EFO	4	EFO	experimental factor	AG13066 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0022320	\N	\N	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	CLO:0022320	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	63849	\N	\N	EFO	0	EFO	AG14446 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG14446 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0022320	\N	"" []	CLO:0022320	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204324	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG14446 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0022320	\N	"" []	CLO:0022320	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204325	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG14446 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022320	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557355	\N	\N	EFO	2	EFO	cell line	AG14446 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022320	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557356	\N	\N	EFO	2	EFO	cell line	AG14446 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0022320	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	1139753	\N	\N	EFO	3	EFO	material entity	AG14446 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0022320	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	2022807	\N	\N	EFO	4	EFO	experimental factor	AG14446 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0022362	\N	\N	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	CLO:0022362	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	63850	\N	\N	EFO	0	EFO	AG11696 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG11696 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0022362	\N	"" []	CLO:0022362	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204326	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG11696 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0022362	\N	"" []	CLO:0022362	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204327	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG11696 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022362	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557357	\N	\N	EFO	2	EFO	cell line	AG11696 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022362	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557358	\N	\N	EFO	2	EFO	cell line	AG11696 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0022362	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	1139754	\N	\N	EFO	3	EFO	material entity	AG11696 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0022362	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	2022808	\N	\N	EFO	4	EFO	experimental factor	AG11696 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0022371	\N	\N	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	CLO:0022371	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	63851	\N	\N	EFO	0	EFO	AG11726 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG11726 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0022371	\N	"" []	CLO:0022371	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204328	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG11726 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0022371	\N	"" []	CLO:0022371	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204329	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG11726 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022371	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557359	\N	\N	EFO	2	EFO	cell line	AG11726 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022371	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557360	\N	\N	EFO	2	EFO	cell line	AG11726 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0022371	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	1139755	\N	\N	EFO	3	EFO	material entity	AG11726 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0022371	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	2022809	\N	\N	EFO	4	EFO	experimental factor	AG11726 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0022604	\N	\N	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	CLO:0022604	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	63852	\N	\N	EFO	0	EFO	AG11513 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG11513 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0022604	\N	"" []	CLO:0022604	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	204330	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG11513 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0022604	\N	"" []	CLO:0022604	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	204331	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG11513 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022604	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	557361	\N	\N	EFO	2	EFO	cell line	AG11513 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0022604	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	557362	\N	\N	EFO	2	EFO	cell line	AG11513 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0022604	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	1139756	\N	\N	EFO	3	EFO	material entity	AG11513 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0022604	"LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS" []	2022810	\N	\N	EFO	4	EFO	experimental factor	AG11513 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0023783	\N	\N	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1424" []	CLO:0023783	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1424" []	63853	\N	\N	EFO	0	EFO	GM10845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM10845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0023783	\N	"" []	CLO:0023783	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1424" []	204332	\N	\N	EFO	1	EFO	B cell derived cell line	GM10845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0023783	\N	"" []	CLO:0023783	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1424" []	204333	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM10845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0023783	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1424" []	557363	\N	\N	EFO	2	EFO	cell line	GM10845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0023783	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1424" []	557364	\N	\N	EFO	2	EFO	cell line	GM10845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0023783	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1424" []	1139757	\N	\N	EFO	3	EFO	material entity	GM10845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0023783	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1424" []	2022811	\N	\N	EFO	4	EFO	experimental factor	GM10845 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0023784	\N	\N	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1423" []	CLO:0023784	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1423" []	63854	\N	\N	EFO	0	EFO	GM10842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM10842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0023784	\N	"" []	CLO:0023784	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1423" []	204334	\N	\N	EFO	1	EFO	B cell derived cell line	GM10842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0023784	\N	"" []	CLO:0023784	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1423" []	204335	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM10842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0023784	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1423" []	557365	\N	\N	EFO	2	EFO	cell line	GM10842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0023784	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1423" []	557366	\N	\N	EFO	2	EFO	cell line	GM10842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0023784	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1423" []	1139758	\N	\N	EFO	3	EFO	material entity	GM10842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0023784	"HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 8 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 CEPH/UTAH PEDIGREE 1423" []	2022812	\N	\N	EFO	4	EFO	experimental factor	GM10842 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0023785	\N	\N	"CEPH/UTAH PEDIGREE 1423 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	CLO:0023785	"CEPH/UTAH PEDIGREE 1423 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	63855	\N	\N	EFO	0	EFO	GM10843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM10843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0023785	\N	"" []	CLO:0023785	"CEPH/UTAH PEDIGREE 1423 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	204336	\N	\N	EFO	1	EFO	B cell derived cell line	GM10843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0023785	\N	"" []	CLO:0023785	"CEPH/UTAH PEDIGREE 1423 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	204337	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM10843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0023785	"CEPH/UTAH PEDIGREE 1423 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	557367	\N	\N	EFO	2	EFO	cell line	GM10843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0023785	"CEPH/UTAH PEDIGREE 1423 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	557368	\N	\N	EFO	2	EFO	cell line	GM10843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0023785	"CEPH/UTAH PEDIGREE 1423 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	1139759	\N	\N	EFO	3	EFO	material entity	GM10843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0023785	"CEPH/UTAH PEDIGREE 1423 HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 16 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] HUMAN VARIATION PANEL - EUROPEAN CAUCASIAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1" []	2022813	\N	\N	EFO	4	EFO	experimental factor	GM10843 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0023794	\N	\N	"SNP500 PANEL CEPH/UTAH PEDIGREE 1413" []	CLO:0023794	"SNP500 PANEL CEPH/UTAH PEDIGREE 1413" []	63856	\N	\N	EFO	0	EFO	GM10832 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM10832 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0023794	\N	"" []	CLO:0023794	"SNP500 PANEL CEPH/UTAH PEDIGREE 1413" []	204338	\N	\N	EFO	1	EFO	B cell derived cell line	GM10832 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0023794	\N	"" []	CLO:0023794	"SNP500 PANEL CEPH/UTAH PEDIGREE 1413" []	204339	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM10832 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0023794	"SNP500 PANEL CEPH/UTAH PEDIGREE 1413" []	557369	\N	\N	EFO	2	EFO	cell line	GM10832 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0023794	"SNP500 PANEL CEPH/UTAH PEDIGREE 1413" []	557370	\N	\N	EFO	2	EFO	cell line	GM10832 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0023794	"SNP500 PANEL CEPH/UTAH PEDIGREE 1413" []	1139760	\N	\N	EFO	3	EFO	material entity	GM10832 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0023794	"SNP500 PANEL CEPH/UTAH PEDIGREE 1413" []	2022814	\N	\N	EFO	4	EFO	experimental factor	GM10832 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0023795	\N	\N	"CEPH/UTAH PEDIGREE 1413 SNP500 PANEL" []	CLO:0023795	"CEPH/UTAH PEDIGREE 1413 SNP500 PANEL" []	63857	\N	\N	EFO	0	EFO	GM10833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM10833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0023795	\N	"" []	CLO:0023795	"CEPH/UTAH PEDIGREE 1413 SNP500 PANEL" []	204340	\N	\N	EFO	1	EFO	B cell derived cell line	GM10833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0023795	\N	"" []	CLO:0023795	"CEPH/UTAH PEDIGREE 1413 SNP500 PANEL" []	204341	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM10833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0023795	"CEPH/UTAH PEDIGREE 1413 SNP500 PANEL" []	557371	\N	\N	EFO	2	EFO	cell line	GM10833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0023795	"CEPH/UTAH PEDIGREE 1413 SNP500 PANEL" []	557372	\N	\N	EFO	2	EFO	cell line	GM10833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0023795	"CEPH/UTAH PEDIGREE 1413 SNP500 PANEL" []	1139761	\N	\N	EFO	3	EFO	material entity	GM10833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0023795	"CEPH/UTAH PEDIGREE 1413 SNP500 PANEL" []	2022815	\N	\N	EFO	4	EFO	experimental factor	GM10833 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0025850	\N	\N	"TRANSLOCATED CHROMOSOME TRISOMY 21" []	CLO:0025850	"TRANSLOCATED CHROMOSOME TRISOMY 21" []	63858	\N	\N	EFO	0	EFO	GM00144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM00144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0025850	\N	"" []	CLO:0025850	"TRANSLOCATED CHROMOSOME TRISOMY 21" []	204342	\N	\N	EFO	1	EFO	fibroblast derived cell line	GM00144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0025850	\N	"" []	CLO:0025850	"TRANSLOCATED CHROMOSOME TRISOMY 21" []	204343	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM00144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0025850	"TRANSLOCATED CHROMOSOME TRISOMY 21" []	557373	\N	\N	EFO	2	EFO	cell line	GM00144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0025850	"TRANSLOCATED CHROMOSOME TRISOMY 21" []	557374	\N	\N	EFO	2	EFO	cell line	GM00144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0025850	"TRANSLOCATED CHROMOSOME TRISOMY 21" []	1139762	\N	\N	EFO	3	EFO	material entity	GM00144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0025850	"TRANSLOCATED CHROMOSOME TRISOMY 21" []	2022816	\N	\N	EFO	4	EFO	experimental factor	GM00144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0026349	\N	\N	"POPULATION/CONVENIENCE CONTROL" []	CLO:0026349	"POPULATION/CONVENIENCE CONTROL" []	63859	\N	\N	EFO	0	EFO	ND00259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND00259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0026349	\N	"" []	CLO:0026349	"POPULATION/CONVENIENCE CONTROL" []	204344	\N	\N	EFO	1	EFO	B cell derived cell line	ND00259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0026349	\N	"" []	CLO:0026349	"POPULATION/CONVENIENCE CONTROL" []	204345	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND00259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0026349	"POPULATION/CONVENIENCE CONTROL" []	557375	\N	\N	EFO	2	EFO	cell line	ND00259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0026349	"POPULATION/CONVENIENCE CONTROL" []	557376	\N	\N	EFO	2	EFO	cell line	ND00259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0026349	"POPULATION/CONVENIENCE CONTROL" []	1139763	\N	\N	EFO	3	EFO	material entity	ND00259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0026349	"POPULATION/CONVENIENCE CONTROL" []	2022817	\N	\N	EFO	4	EFO	experimental factor	ND00259 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0026399	\N	\N	"POPULATION/CONVENIENCE CONTROL" []	CLO:0026399	"POPULATION/CONVENIENCE CONTROL" []	63860	\N	\N	EFO	0	EFO	ND00268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND00268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0026399	\N	"" []	CLO:0026399	"POPULATION/CONVENIENCE CONTROL" []	204346	\N	\N	EFO	1	EFO	B cell derived cell line	ND00268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0026399	\N	"" []	CLO:0026399	"POPULATION/CONVENIENCE CONTROL" []	204347	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND00268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0026399	"POPULATION/CONVENIENCE CONTROL" []	557377	\N	\N	EFO	2	EFO	cell line	ND00268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0026399	"POPULATION/CONVENIENCE CONTROL" []	557378	\N	\N	EFO	2	EFO	cell line	ND00268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0026399	"POPULATION/CONVENIENCE CONTROL" []	1139764	\N	\N	EFO	3	EFO	material entity	ND00268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0026399	"POPULATION/CONVENIENCE CONTROL" []	2022818	\N	\N	EFO	4	EFO	experimental factor	ND00268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0026786	\N	\N	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0026786	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63861	\N	\N	EFO	0	EFO	GM15386 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15386 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0026786	\N	"" []	CLO:0026786	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204348	\N	\N	EFO	1	EFO	B cell derived cell line	GM15386 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0026786	\N	"" []	CLO:0026786	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204349	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15386 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0026786	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557379	\N	\N	EFO	2	EFO	cell line	GM15386 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0026786	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557380	\N	\N	EFO	2	EFO	cell line	GM15386 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0026786	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139765	\N	\N	EFO	3	EFO	material entity	GM15386 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0026786	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022819	\N	\N	EFO	4	EFO	experimental factor	GM15386 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0026789	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0026789	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63862	\N	\N	EFO	0	EFO	GM15385 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15385 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0026789	\N	"" []	CLO:0026789	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204350	\N	\N	EFO	1	EFO	B cell derived cell line	GM15385 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0026789	\N	"" []	CLO:0026789	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204351	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15385 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0026789	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557381	\N	\N	EFO	2	EFO	cell line	GM15385 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0026789	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557382	\N	\N	EFO	2	EFO	cell line	GM15385 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0026789	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139766	\N	\N	EFO	3	EFO	material entity	GM15385 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0026789	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022820	\N	\N	EFO	4	EFO	experimental factor	GM15385 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027048	\N	\N	"ISCHEMIC STROKE NDPT081 ISCHEMIC STROKE DNA PANEL" []	CLO:0027048	"ISCHEMIC STROKE NDPT081 ISCHEMIC STROKE DNA PANEL" []	63863	\N	\N	EFO	0	EFO	ND00397 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND00397 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027048	\N	"" []	CLO:0027048	"ISCHEMIC STROKE NDPT081 ISCHEMIC STROKE DNA PANEL" []	204352	\N	\N	EFO	1	EFO	B cell derived cell line	ND00397 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027048	\N	"" []	CLO:0027048	"ISCHEMIC STROKE NDPT081 ISCHEMIC STROKE DNA PANEL" []	204353	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND00397 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027048	"ISCHEMIC STROKE NDPT081 ISCHEMIC STROKE DNA PANEL" []	557383	\N	\N	EFO	2	EFO	cell line	ND00397 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027048	"ISCHEMIC STROKE NDPT081 ISCHEMIC STROKE DNA PANEL" []	557384	\N	\N	EFO	2	EFO	cell line	ND00397 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027048	"ISCHEMIC STROKE NDPT081 ISCHEMIC STROKE DNA PANEL" []	1139767	\N	\N	EFO	3	EFO	material entity	ND00397 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027048	"ISCHEMIC STROKE NDPT081 ISCHEMIC STROKE DNA PANEL" []	2022821	\N	\N	EFO	4	EFO	experimental factor	ND00397 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027182	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0027182	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63864	\N	\N	EFO	0	EFO	GM15324 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15324 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027182	\N	"" []	CLO:0027182	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204354	\N	\N	EFO	1	EFO	B cell derived cell line	GM15324 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027182	\N	"" []	CLO:0027182	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204355	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15324 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027182	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557385	\N	\N	EFO	2	EFO	cell line	GM15324 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027182	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557386	\N	\N	EFO	2	EFO	cell line	GM15324 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027182	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139768	\N	\N	EFO	3	EFO	material entity	GM15324 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027182	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022822	\N	\N	EFO	4	EFO	experimental factor	GM15324 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027328	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0027328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63865	\N	\N	EFO	0	EFO	GM15268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027328	\N	"" []	CLO:0027328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204356	\N	\N	EFO	1	EFO	B cell derived cell line	GM15268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027328	\N	"" []	CLO:0027328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204357	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557387	\N	\N	EFO	2	EFO	cell line	GM15268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557388	\N	\N	EFO	2	EFO	cell line	GM15268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139769	\N	\N	EFO	3	EFO	material entity	GM15268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022823	\N	\N	EFO	4	EFO	experimental factor	GM15268 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027391	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0027391	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63866	\N	\N	EFO	0	EFO	GM15245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027391	\N	"" []	CLO:0027391	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204358	\N	\N	EFO	1	EFO	B cell derived cell line	GM15245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027391	\N	"" []	CLO:0027391	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204359	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027391	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557389	\N	\N	EFO	2	EFO	cell line	GM15245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027391	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557390	\N	\N	EFO	2	EFO	cell line	GM15245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027391	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139770	\N	\N	EFO	3	EFO	material entity	GM15245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027391	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022824	\N	\N	EFO	4	EFO	experimental factor	GM15245 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027447	\N	\N	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0027447	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63867	\N	\N	EFO	0	EFO	GM15242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027447	\N	"" []	CLO:0027447	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204360	\N	\N	EFO	1	EFO	B cell derived cell line	GM15242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027447	\N	"" []	CLO:0027447	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204361	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027447	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557391	\N	\N	EFO	2	EFO	cell line	GM15242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027447	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557392	\N	\N	EFO	2	EFO	cell line	GM15242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027447	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139771	\N	\N	EFO	3	EFO	material entity	GM15242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027447	"CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022825	\N	\N	EFO	4	EFO	experimental factor	GM15242 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027467	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0027467	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63868	\N	\N	EFO	0	EFO	GM15236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027467	\N	"" []	CLO:0027467	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204362	\N	\N	EFO	1	EFO	B cell derived cell line	GM15236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027467	\N	"" []	CLO:0027467	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204363	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027467	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557393	\N	\N	EFO	2	EFO	cell line	GM15236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027467	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557394	\N	\N	EFO	2	EFO	cell line	GM15236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027467	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139772	\N	\N	EFO	3	EFO	material entity	GM15236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027467	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022826	\N	\N	EFO	4	EFO	experimental factor	GM15236 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027473	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0027473	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63869	\N	\N	EFO	0	EFO	GM15227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027473	\N	"" []	CLO:0027473	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204364	\N	\N	EFO	1	EFO	B cell derived cell line	GM15227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027473	\N	"" []	CLO:0027473	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204365	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027473	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557395	\N	\N	EFO	2	EFO	cell line	GM15227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027473	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557396	\N	\N	EFO	2	EFO	cell line	GM15227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027473	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139773	\N	\N	EFO	3	EFO	material entity	GM15227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027473	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022827	\N	\N	EFO	4	EFO	experimental factor	GM15227 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027483	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0027483	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63870	\N	\N	EFO	0	EFO	GM15223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027483	\N	"" []	CLO:0027483	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204366	\N	\N	EFO	1	EFO	B cell derived cell line	GM15223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027483	\N	"" []	CLO:0027483	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204367	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027483	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557397	\N	\N	EFO	2	EFO	cell line	GM15223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027483	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557398	\N	\N	EFO	2	EFO	cell line	GM15223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027483	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139774	\N	\N	EFO	3	EFO	material entity	GM15223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027483	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022828	\N	\N	EFO	4	EFO	experimental factor	GM15223 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027484	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0027484	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63871	\N	\N	EFO	0	EFO	GM15224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027484	\N	"" []	CLO:0027484	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204368	\N	\N	EFO	1	EFO	B cell derived cell line	GM15224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027484	\N	"" []	CLO:0027484	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204369	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027484	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557399	\N	\N	EFO	2	EFO	cell line	GM15224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027484	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557400	\N	\N	EFO	2	EFO	cell line	GM15224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027484	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139775	\N	\N	EFO	3	EFO	material entity	GM15224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027484	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022829	\N	\N	EFO	4	EFO	experimental factor	GM15224 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027486	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0027486	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63872	\N	\N	EFO	0	EFO	GM15226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027486	\N	"" []	CLO:0027486	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204370	\N	\N	EFO	1	EFO	B cell derived cell line	GM15226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027486	\N	"" []	CLO:0027486	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204371	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027486	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557401	\N	\N	EFO	2	EFO	cell line	GM15226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027486	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557402	\N	\N	EFO	2	EFO	cell line	GM15226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027486	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139776	\N	\N	EFO	3	EFO	material entity	GM15226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027486	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022830	\N	\N	EFO	4	EFO	experimental factor	GM15226 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027487	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0027487	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63873	\N	\N	EFO	0	EFO	GM15221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027487	\N	"" []	CLO:0027487	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204372	\N	\N	EFO	1	EFO	B cell derived cell line	GM15221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027487	\N	"" []	CLO:0027487	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204373	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027487	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557403	\N	\N	EFO	2	EFO	cell line	GM15221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027487	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557404	\N	\N	EFO	2	EFO	cell line	GM15221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027487	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139777	\N	\N	EFO	3	EFO	material entity	GM15221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027487	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022831	\N	\N	EFO	4	EFO	experimental factor	GM15221 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027491	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	CLO:0027491	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	63874	\N	\N	EFO	0	EFO	GM15216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027491	\N	"" []	CLO:0027491	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	204374	\N	\N	EFO	1	EFO	B cell derived cell line	GM15216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027491	\N	"" []	CLO:0027491	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	204375	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027491	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	557405	\N	\N	EFO	2	EFO	cell line	GM15216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027491	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	557406	\N	\N	EFO	2	EFO	cell line	GM15216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027491	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	1139778	\N	\N	EFO	3	EFO	material entity	GM15216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027491	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	2022832	\N	\N	EFO	4	EFO	experimental factor	GM15216 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027492	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0027492	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63875	\N	\N	EFO	0	EFO	GM15215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027492	\N	"" []	CLO:0027492	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204376	\N	\N	EFO	1	EFO	B cell derived cell line	GM15215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027492	\N	"" []	CLO:0027492	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204377	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027492	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557407	\N	\N	EFO	2	EFO	cell line	GM15215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027492	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557408	\N	\N	EFO	2	EFO	cell line	GM15215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027492	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139779	\N	\N	EFO	3	EFO	material entity	GM15215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027492	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022833	\N	\N	EFO	4	EFO	experimental factor	GM15215 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0027493	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0027493	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63876	\N	\N	EFO	0	EFO	GM15213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0027493	\N	"" []	CLO:0027493	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204378	\N	\N	EFO	1	EFO	B cell derived cell line	GM15213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0027493	\N	"" []	CLO:0027493	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204379	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027493	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557409	\N	\N	EFO	2	EFO	cell line	GM15213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0027493	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557410	\N	\N	EFO	2	EFO	cell line	GM15213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0027493	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139780	\N	\N	EFO	3	EFO	material entity	GM15213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0027493	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022834	\N	\N	EFO	4	EFO	experimental factor	GM15213 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0028103	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0028103	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63877	\N	\N	EFO	0	EFO	GM15590 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15590 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0028103	\N	"" []	CLO:0028103	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204380	\N	\N	EFO	1	EFO	B cell derived cell line	GM15590 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0028103	\N	"" []	CLO:0028103	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204381	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15590 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0028103	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557411	\N	\N	EFO	2	EFO	cell line	GM15590 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0028103	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557412	\N	\N	EFO	2	EFO	cell line	GM15590 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0028103	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139781	\N	\N	EFO	3	EFO	material entity	GM15590 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0028103	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022835	\N	\N	EFO	4	EFO	experimental factor	GM15590 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0028397	\N	\N	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	CLO:0028397	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	63878	\N	\N	EFO	0	EFO	ND01173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND01173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0028397	\N	"" []	CLO:0028397	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	204382	\N	\N	EFO	1	EFO	B cell derived cell line	ND01173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0028397	\N	"" []	CLO:0028397	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	204383	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND01173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0028397	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	557413	\N	\N	EFO	2	EFO	cell line	ND01173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0028397	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	557414	\N	\N	EFO	2	EFO	cell line	ND01173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0028397	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	1139782	\N	\N	EFO	3	EFO	material entity	ND01173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0028397	"PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES" []	2022836	\N	\N	EFO	4	EFO	experimental factor	ND01173 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0029036	\N	\N	"POPULATION/CONVENIENCE CONTROL" []	CLO:0029036	"POPULATION/CONVENIENCE CONTROL" []	63879	\N	\N	EFO	0	EFO	ND06229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND06229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0029036	\N	"" []	CLO:0029036	"POPULATION/CONVENIENCE CONTROL" []	204384	\N	\N	EFO	1	EFO	B cell derived cell line	ND06229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0029036	\N	"" []	CLO:0029036	"POPULATION/CONVENIENCE CONTROL" []	204385	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND06229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0029036	"POPULATION/CONVENIENCE CONTROL" []	557415	\N	\N	EFO	2	EFO	cell line	ND06229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0029036	"POPULATION/CONVENIENCE CONTROL" []	557416	\N	\N	EFO	2	EFO	cell line	ND06229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0029036	"POPULATION/CONVENIENCE CONTROL" []	1139783	\N	\N	EFO	3	EFO	material entity	ND06229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0029036	"POPULATION/CONVENIENCE CONTROL" []	2022837	\N	\N	EFO	4	EFO	experimental factor	ND06229 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0029732	\N	\N	"POPULATION/CONVENIENCE CONTROL" []	CLO:0029732	"POPULATION/CONVENIENCE CONTROL" []	63880	\N	\N	EFO	0	EFO	ND00051 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND00051 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0029732	\N	"" []	CLO:0029732	"POPULATION/CONVENIENCE CONTROL" []	204386	\N	\N	EFO	1	EFO	B cell derived cell line	ND00051 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0029732	\N	"" []	CLO:0029732	"POPULATION/CONVENIENCE CONTROL" []	204387	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND00051 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0029732	"POPULATION/CONVENIENCE CONTROL" []	557417	\N	\N	EFO	2	EFO	cell line	ND00051 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0029732	"POPULATION/CONVENIENCE CONTROL" []	557418	\N	\N	EFO	2	EFO	cell line	ND00051 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0029732	"POPULATION/CONVENIENCE CONTROL" []	1139784	\N	\N	EFO	3	EFO	material entity	ND00051 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0029732	"POPULATION/CONVENIENCE CONTROL" []	2022838	\N	\N	EFO	4	EFO	experimental factor	ND00051 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0029916	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0029916	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63881	\N	\N	EFO	0	EFO	GM15144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0029916	\N	"" []	CLO:0029916	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204388	\N	\N	EFO	1	EFO	B cell derived cell line	GM15144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0029916	\N	"" []	CLO:0029916	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204389	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0029916	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557419	\N	\N	EFO	2	EFO	cell line	GM15144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0029916	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557420	\N	\N	EFO	2	EFO	cell line	GM15144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0029916	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139785	\N	\N	EFO	3	EFO	material entity	GM15144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0029916	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022839	\N	\N	EFO	4	EFO	experimental factor	GM15144 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0030105	\N	\N	"POPULATION/CONVENIENCE CONTROL" []	CLO:0030105	"POPULATION/CONVENIENCE CONTROL" []	63882	\N	\N	EFO	0	EFO	ND00022 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND00022 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0030105	\N	"" []	CLO:0030105	"POPULATION/CONVENIENCE CONTROL" []	204390	\N	\N	EFO	1	EFO	B cell derived cell line	ND00022 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0030105	\N	"" []	CLO:0030105	"POPULATION/CONVENIENCE CONTROL" []	204391	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND00022 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030105	"POPULATION/CONVENIENCE CONTROL" []	557421	\N	\N	EFO	2	EFO	cell line	ND00022 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030105	"POPULATION/CONVENIENCE CONTROL" []	557422	\N	\N	EFO	2	EFO	cell line	ND00022 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0030105	"POPULATION/CONVENIENCE CONTROL" []	1139786	\N	\N	EFO	3	EFO	material entity	ND00022 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0030105	"POPULATION/CONVENIENCE CONTROL" []	2022840	\N	\N	EFO	4	EFO	experimental factor	ND00022 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0030305	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	CLO:0030305	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	63883	\N	\N	EFO	0	EFO	GM15029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0030305	\N	"" []	CLO:0030305	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	204392	\N	\N	EFO	1	EFO	B cell derived cell line	GM15029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0030305	\N	"" []	CLO:0030305	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	204393	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030305	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	557423	\N	\N	EFO	2	EFO	cell line	GM15029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030305	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	557424	\N	\N	EFO	2	EFO	cell line	GM15029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0030305	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	1139787	\N	\N	EFO	3	EFO	material entity	GM15029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0030305	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9" []	2022841	\N	\N	EFO	4	EFO	experimental factor	GM15029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0030309	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0030309	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63884	\N	\N	EFO	0	EFO	GM15038 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15038 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0030309	\N	"" []	CLO:0030309	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204394	\N	\N	EFO	1	EFO	B cell derived cell line	GM15038 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0030309	\N	"" []	CLO:0030309	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204395	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15038 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030309	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557425	\N	\N	EFO	2	EFO	cell line	GM15038 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030309	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557426	\N	\N	EFO	2	EFO	cell line	GM15038 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0030309	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139788	\N	\N	EFO	3	EFO	material entity	GM15038 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0030309	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022842	\N	\N	EFO	4	EFO	experimental factor	GM15038 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0030311	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0030311	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63885	\N	\N	EFO	0	EFO	GM15036 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15036 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0030311	\N	"" []	CLO:0030311	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204396	\N	\N	EFO	1	EFO	B cell derived cell line	GM15036 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0030311	\N	"" []	CLO:0030311	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204397	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15036 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030311	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557427	\N	\N	EFO	2	EFO	cell line	GM15036 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030311	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557428	\N	\N	EFO	2	EFO	cell line	GM15036 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0030311	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139789	\N	\N	EFO	3	EFO	material entity	GM15036 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0030311	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022843	\N	\N	EFO	4	EFO	experimental factor	GM15036 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0030324	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0030324	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63886	\N	\N	EFO	0	EFO	GM15061 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15061 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0030324	\N	"" []	CLO:0030324	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204398	\N	\N	EFO	1	EFO	B cell derived cell line	GM15061 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0030324	\N	"" []	CLO:0030324	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204399	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15061 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030324	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557429	\N	\N	EFO	2	EFO	cell line	GM15061 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030324	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557430	\N	\N	EFO	2	EFO	cell line	GM15061 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0030324	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139790	\N	\N	EFO	3	EFO	material entity	GM15061 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0030324	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022844	\N	\N	EFO	4	EFO	experimental factor	GM15061 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0030328	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0030328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63887	\N	\N	EFO	0	EFO	GM15056 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15056 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0030328	\N	"" []	CLO:0030328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204400	\N	\N	EFO	1	EFO	B cell derived cell line	GM15056 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0030328	\N	"" []	CLO:0030328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204401	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15056 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557431	\N	\N	EFO	2	EFO	cell line	GM15056 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557432	\N	\N	EFO	2	EFO	cell line	GM15056 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0030328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139791	\N	\N	EFO	3	EFO	material entity	GM15056 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0030328	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022845	\N	\N	EFO	4	EFO	experimental factor	GM15056 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0030337	\N	\N	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	CLO:0030337	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	63888	\N	\N	EFO	0	EFO	GM15072 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM15072 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0030337	\N	"" []	CLO:0030337	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204402	\N	\N	EFO	1	EFO	B cell derived cell line	GM15072 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0030337	\N	"" []	CLO:0030337	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	204403	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15072 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030337	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557433	\N	\N	EFO	2	EFO	cell line	GM15072 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030337	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	557434	\N	\N	EFO	2	EFO	cell line	GM15072 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0030337	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	1139792	\N	\N	EFO	3	EFO	material entity	GM15072 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0030337	"DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION" []	2022846	\N	\N	EFO	4	EFO	experimental factor	GM15072 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0030688	\N	\N	"POPULATION/CONVENIENCE CONTROL" []	CLO:0030688	"POPULATION/CONVENIENCE CONTROL" []	63889	\N	\N	EFO	0	EFO	ND00151 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND00151 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0030688	\N	"" []	CLO:0030688	"POPULATION/CONVENIENCE CONTROL" []	204404	\N	\N	EFO	1	EFO	B cell derived cell line	ND00151 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0030688	\N	"" []	CLO:0030688	"POPULATION/CONVENIENCE CONTROL" []	204405	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND00151 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030688	"POPULATION/CONVENIENCE CONTROL" []	557435	\N	\N	EFO	2	EFO	cell line	ND00151 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0030688	"POPULATION/CONVENIENCE CONTROL" []	557436	\N	\N	EFO	2	EFO	cell line	ND00151 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0030688	"POPULATION/CONVENIENCE CONTROL" []	1139793	\N	\N	EFO	3	EFO	material entity	ND00151 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0030688	"POPULATION/CONVENIENCE CONTROL" []	2022847	\N	\N	EFO	4	EFO	experimental factor	ND00151 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031189	\N	\N	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	CLO:0031189	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	63890	\N	\N	EFO	0	EFO	GM14381 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14381 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031189	\N	"" []	CLO:0031189	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	204406	\N	\N	EFO	1	EFO	B cell derived cell line	GM14381 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031189	\N	"" []	CLO:0031189	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	204407	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14381 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031189	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	557437	\N	\N	EFO	2	EFO	cell line	GM14381 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031189	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	557438	\N	\N	EFO	2	EFO	cell line	GM14381 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031189	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	1139794	\N	\N	EFO	3	EFO	material entity	GM14381 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031189	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	2022848	\N	\N	EFO	4	EFO	experimental factor	GM14381 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031198	\N	\N	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	CLO:0031198	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	63891	\N	\N	EFO	0	EFO	GM14382 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14382 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031198	\N	"" []	CLO:0031198	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204408	\N	\N	EFO	1	EFO	B cell derived cell line	GM14382 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031198	\N	"" []	CLO:0031198	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204409	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14382 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031198	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557439	\N	\N	EFO	2	EFO	cell line	GM14382 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031198	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557440	\N	\N	EFO	2	EFO	cell line	GM14382 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031198	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	1139795	\N	\N	EFO	3	EFO	material entity	GM14382 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031198	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	2022849	\N	\N	EFO	4	EFO	experimental factor	GM14382 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031201	\N	\N	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	CLO:0031201	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	63892	\N	\N	EFO	0	EFO	GM14405 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14405 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031201	\N	"" []	CLO:0031201	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204410	\N	\N	EFO	1	EFO	B cell derived cell line	GM14405 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031201	\N	"" []	CLO:0031201	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204411	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14405 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031201	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557441	\N	\N	EFO	2	EFO	cell line	GM14405 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031201	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557442	\N	\N	EFO	2	EFO	cell line	GM14405 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031201	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	1139796	\N	\N	EFO	3	EFO	material entity	GM14405 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031201	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	2022850	\N	\N	EFO	4	EFO	experimental factor	GM14405 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031225	\N	\N	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	CLO:0031225	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	63893	\N	\N	EFO	0	EFO	GM14414 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14414 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031225	\N	"" []	CLO:0031225	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	204412	\N	\N	EFO	1	EFO	B cell derived cell line	GM14414 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031225	\N	"" []	CLO:0031225	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	204413	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14414 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031225	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	557443	\N	\N	EFO	2	EFO	cell line	GM14414 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031225	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	557444	\N	\N	EFO	2	EFO	cell line	GM14414 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031225	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	1139797	\N	\N	EFO	3	EFO	material entity	GM14414 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031225	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	2022851	\N	\N	EFO	4	EFO	experimental factor	GM14414 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031226	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031226	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63894	\N	\N	EFO	0	EFO	GM14409 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14409 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031226	\N	"" []	CLO:0031226	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204414	\N	\N	EFO	1	EFO	B cell derived cell line	GM14409 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031226	\N	"" []	CLO:0031226	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204415	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14409 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031226	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557445	\N	\N	EFO	2	EFO	cell line	GM14409 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031226	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557446	\N	\N	EFO	2	EFO	cell line	GM14409 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031226	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139798	\N	\N	EFO	3	EFO	material entity	GM14409 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031226	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022852	\N	\N	EFO	4	EFO	experimental factor	GM14409 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031227	\N	\N	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031227	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63895	\N	\N	EFO	0	EFO	GM14408 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14408 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031227	\N	"" []	CLO:0031227	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204416	\N	\N	EFO	1	EFO	B cell derived cell line	GM14408 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031227	\N	"" []	CLO:0031227	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204417	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14408 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031227	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557447	\N	\N	EFO	2	EFO	cell line	GM14408 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031227	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557448	\N	\N	EFO	2	EFO	cell line	GM14408 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031227	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139799	\N	\N	EFO	3	EFO	material entity	GM14408 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031227	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022853	\N	\N	EFO	4	EFO	experimental factor	GM14408 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031228	\N	\N	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	CLO:0031228	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	63896	\N	\N	EFO	0	EFO	GM14406 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14406 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031228	\N	"" []	CLO:0031228	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204418	\N	\N	EFO	1	EFO	B cell derived cell line	GM14406 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031228	\N	"" []	CLO:0031228	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204419	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14406 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031228	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557449	\N	\N	EFO	2	EFO	cell line	GM14406 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031228	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557450	\N	\N	EFO	2	EFO	cell line	GM14406 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031228	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	1139800	\N	\N	EFO	3	EFO	material entity	GM14406 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031228	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	2022854	\N	\N	EFO	4	EFO	experimental factor	GM14406 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031232	\N	\N	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	CLO:0031232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	63897	\N	\N	EFO	0	EFO	AG08904 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG08904 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0031232	\N	"" []	CLO:0031232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204420	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG08904 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031232	\N	"" []	CLO:0031232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204421	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG08904 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557451	\N	\N	EFO	2	EFO	cell line	AG08904 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557452	\N	\N	EFO	2	EFO	cell line	AG08904 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	1139801	\N	\N	EFO	3	EFO	material entity	AG08904 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	2022855	\N	\N	EFO	4	EFO	experimental factor	AG08904 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031234	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031234	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63898	\N	\N	EFO	0	EFO	GM14439 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14439 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031234	\N	"" []	CLO:0031234	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204422	\N	\N	EFO	1	EFO	B cell derived cell line	GM14439 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031234	\N	"" []	CLO:0031234	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204423	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14439 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031234	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557453	\N	\N	EFO	2	EFO	cell line	GM14439 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031234	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557454	\N	\N	EFO	2	EFO	cell line	GM14439 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031234	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139802	\N	\N	EFO	3	EFO	material entity	GM14439 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031234	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022856	\N	\N	EFO	4	EFO	experimental factor	GM14439 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031236	\N	\N	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	CLO:0031236	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	63899	\N	\N	EFO	0	EFO	GM14433 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14433 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031236	\N	"" []	CLO:0031236	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204424	\N	\N	EFO	1	EFO	B cell derived cell line	GM14433 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031236	\N	"" []	CLO:0031236	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204425	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14433 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031236	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557455	\N	\N	EFO	2	EFO	cell line	GM14433 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031236	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557456	\N	\N	EFO	2	EFO	cell line	GM14433 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031236	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	1139803	\N	\N	EFO	3	EFO	material entity	GM14433 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031236	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	2022857	\N	\N	EFO	4	EFO	experimental factor	GM14433 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031238	\N	\N	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	CLO:0031238	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	63900	\N	\N	EFO	0	EFO	GM14432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031238	\N	"" []	CLO:0031238	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204426	\N	\N	EFO	1	EFO	B cell derived cell line	GM14432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031238	\N	"" []	CLO:0031238	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204427	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031238	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557457	\N	\N	EFO	2	EFO	cell line	GM14432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031238	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557458	\N	\N	EFO	2	EFO	cell line	GM14432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031238	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	1139804	\N	\N	EFO	3	EFO	material entity	GM14432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031238	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	2022858	\N	\N	EFO	4	EFO	experimental factor	GM14432 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031239	\N	\N	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031239	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63901	\N	\N	EFO	0	EFO	GM14417 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14417 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031239	\N	"" []	CLO:0031239	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204428	\N	\N	EFO	1	EFO	B cell derived cell line	GM14417 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031239	\N	"" []	CLO:0031239	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204429	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14417 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031239	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557459	\N	\N	EFO	2	EFO	cell line	GM14417 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031239	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557460	\N	\N	EFO	2	EFO	cell line	GM14417 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031239	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139805	\N	\N	EFO	3	EFO	material entity	GM14417 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031239	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022859	\N	\N	EFO	4	EFO	experimental factor	GM14417 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031253	\N	\N	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	CLO:0031253	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	63902	\N	\N	EFO	0	EFO	GM14453 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14453 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031253	\N	"" []	CLO:0031253	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	204430	\N	\N	EFO	1	EFO	B cell derived cell line	GM14453 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031253	\N	"" []	CLO:0031253	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	204431	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14453 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031253	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	557461	\N	\N	EFO	2	EFO	cell line	GM14453 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031253	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	557462	\N	\N	EFO	2	EFO	cell line	GM14453 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031253	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	1139806	\N	\N	EFO	3	EFO	material entity	GM14453 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031253	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	2022860	\N	\N	EFO	4	EFO	experimental factor	GM14453 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031254	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031254	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63903	\N	\N	EFO	0	EFO	GM14454 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14454 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031254	\N	"" []	CLO:0031254	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204432	\N	\N	EFO	1	EFO	B cell derived cell line	GM14454 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031254	\N	"" []	CLO:0031254	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204433	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14454 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031254	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557463	\N	\N	EFO	2	EFO	cell line	GM14454 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031254	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557464	\N	\N	EFO	2	EFO	cell line	GM14454 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031254	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139807	\N	\N	EFO	3	EFO	material entity	GM14454 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031254	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022861	\N	\N	EFO	4	EFO	experimental factor	GM14454 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031256	\N	\N	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031256	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63904	\N	\N	EFO	0	EFO	GM14455 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14455 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031256	\N	"" []	CLO:0031256	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204434	\N	\N	EFO	1	EFO	B cell derived cell line	GM14455 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031256	\N	"" []	CLO:0031256	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204435	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14455 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031256	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557465	\N	\N	EFO	2	EFO	cell line	GM14455 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031256	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557466	\N	\N	EFO	2	EFO	cell line	GM14455 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031256	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139808	\N	\N	EFO	3	EFO	material entity	GM14455 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031256	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022862	\N	\N	EFO	4	EFO	experimental factor	GM14455 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031257	\N	\N	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	CLO:0031257	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	63905	\N	\N	EFO	0	EFO	GM14440 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14440 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031257	\N	"" []	CLO:0031257	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204436	\N	\N	EFO	1	EFO	B cell derived cell line	GM14440 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031257	\N	"" []	CLO:0031257	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204437	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14440 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031257	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557467	\N	\N	EFO	2	EFO	cell line	GM14440 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031257	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557468	\N	\N	EFO	2	EFO	cell line	GM14440 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031257	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	1139809	\N	\N	EFO	3	EFO	material entity	GM14440 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031257	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	2022863	\N	\N	EFO	4	EFO	experimental factor	GM14440 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031260	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031260	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63906	\N	\N	EFO	0	EFO	GM14447 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14447 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031260	\N	"" []	CLO:0031260	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204438	\N	\N	EFO	1	EFO	B cell derived cell line	GM14447 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031260	\N	"" []	CLO:0031260	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204439	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14447 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031260	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557469	\N	\N	EFO	2	EFO	cell line	GM14447 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031260	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557470	\N	\N	EFO	2	EFO	cell line	GM14447 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031260	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139810	\N	\N	EFO	3	EFO	material entity	GM14447 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031260	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022864	\N	\N	EFO	4	EFO	experimental factor	GM14447 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031261	\N	\N	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031261	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63907	\N	\N	EFO	0	EFO	GM14448 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14448 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031261	\N	"" []	CLO:0031261	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204440	\N	\N	EFO	1	EFO	B cell derived cell line	GM14448 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031261	\N	"" []	CLO:0031261	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204441	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14448 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031261	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557471	\N	\N	EFO	2	EFO	cell line	GM14448 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031261	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557472	\N	\N	EFO	2	EFO	cell line	GM14448 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031261	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139811	\N	\N	EFO	3	EFO	material entity	GM14448 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031261	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022865	\N	\N	EFO	4	EFO	experimental factor	GM14448 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031263	\N	\N	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	CLO:0031263	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	63908	\N	\N	EFO	0	EFO	GM14452 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14452 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031263	\N	"" []	CLO:0031263	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204442	\N	\N	EFO	1	EFO	B cell derived cell line	GM14452 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031263	\N	"" []	CLO:0031263	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204443	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14452 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031263	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557473	\N	\N	EFO	2	EFO	cell line	GM14452 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031263	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557474	\N	\N	EFO	2	EFO	cell line	GM14452 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031263	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	1139812	\N	\N	EFO	3	EFO	material entity	GM14452 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031263	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	2022866	\N	\N	EFO	4	EFO	experimental factor	GM14452 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031272	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031272	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63909	\N	\N	EFO	0	EFO	GM14475 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14475 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031272	\N	"" []	CLO:0031272	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204444	\N	\N	EFO	1	EFO	B cell derived cell line	GM14475 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031272	\N	"" []	CLO:0031272	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204445	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14475 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031272	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557475	\N	\N	EFO	2	EFO	cell line	GM14475 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031272	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557476	\N	\N	EFO	2	EFO	cell line	GM14475 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031272	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139813	\N	\N	EFO	3	EFO	material entity	GM14475 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031272	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022867	\N	\N	EFO	4	EFO	experimental factor	GM14475 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031274	\N	\N	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031274	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63910	\N	\N	EFO	0	EFO	GM14476 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14476 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031274	\N	"" []	CLO:0031274	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204446	\N	\N	EFO	1	EFO	B cell derived cell line	GM14476 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031274	\N	"" []	CLO:0031274	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204447	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14476 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031274	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557477	\N	\N	EFO	2	EFO	cell line	GM14476 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031274	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557478	\N	\N	EFO	2	EFO	cell line	GM14476 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031274	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139814	\N	\N	EFO	3	EFO	material entity	GM14476 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031274	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022868	\N	\N	EFO	4	EFO	experimental factor	GM14476 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031275	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031275	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63911	\N	\N	EFO	0	EFO	GM14465 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14465 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031275	\N	"" []	CLO:0031275	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204448	\N	\N	EFO	1	EFO	B cell derived cell line	GM14465 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031275	\N	"" []	CLO:0031275	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204449	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14465 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031275	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557479	\N	\N	EFO	2	EFO	cell line	GM14465 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031275	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557480	\N	\N	EFO	2	EFO	cell line	GM14465 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031275	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139815	\N	\N	EFO	3	EFO	material entity	GM14465 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031275	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022869	\N	\N	EFO	4	EFO	experimental factor	GM14465 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031276	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031276	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63912	\N	\N	EFO	0	EFO	GM14467 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14467 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031276	\N	"" []	CLO:0031276	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204450	\N	\N	EFO	1	EFO	B cell derived cell line	GM14467 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031276	\N	"" []	CLO:0031276	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204451	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14467 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031276	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557481	\N	\N	EFO	2	EFO	cell line	GM14467 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031276	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557482	\N	\N	EFO	2	EFO	cell line	GM14467 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031276	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139816	\N	\N	EFO	3	EFO	material entity	GM14467 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031276	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022870	\N	\N	EFO	4	EFO	experimental factor	GM14467 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031278	\N	\N	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	CLO:0031278	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	63913	\N	\N	EFO	0	EFO	GM14464 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14464 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031278	\N	"" []	CLO:0031278	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204452	\N	\N	EFO	1	EFO	B cell derived cell line	GM14464 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031278	\N	"" []	CLO:0031278	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204453	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14464 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031278	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557483	\N	\N	EFO	2	EFO	cell line	GM14464 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031278	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557484	\N	\N	EFO	2	EFO	cell line	GM14464 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031278	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	1139817	\N	\N	EFO	3	EFO	material entity	GM14464 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031278	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	2022871	\N	\N	EFO	4	EFO	experimental factor	GM14464 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031280	\N	\N	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	CLO:0031280	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	63914	\N	\N	EFO	0	EFO	GM14474 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14474 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031280	\N	"" []	CLO:0031280	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204454	\N	\N	EFO	1	EFO	B cell derived cell line	GM14474 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031280	\N	"" []	CLO:0031280	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204455	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14474 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031280	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557485	\N	\N	EFO	2	EFO	cell line	GM14474 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031280	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557486	\N	\N	EFO	2	EFO	cell line	GM14474 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031280	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	1139818	\N	\N	EFO	3	EFO	material entity	GM14474 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031280	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	2022872	\N	\N	EFO	4	EFO	experimental factor	GM14474 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031281	\N	\N	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031281	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63915	\N	\N	EFO	0	EFO	GM14468 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14468 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031281	\N	"" []	CLO:0031281	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204456	\N	\N	EFO	1	EFO	B cell derived cell line	GM14468 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031281	\N	"" []	CLO:0031281	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204457	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14468 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031281	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557487	\N	\N	EFO	2	EFO	cell line	GM14468 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031281	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557488	\N	\N	EFO	2	EFO	cell line	GM14468 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031281	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139819	\N	\N	EFO	3	EFO	material entity	GM14468 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031281	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022873	\N	\N	EFO	4	EFO	experimental factor	GM14468 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031504	\N	\N	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	CLO:0031504	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	63916	\N	\N	EFO	0	EFO	GM14501 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14501 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031504	\N	"" []	CLO:0031504	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204458	\N	\N	EFO	1	EFO	B cell derived cell line	GM14501 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031504	\N	"" []	CLO:0031504	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204459	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14501 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031504	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557489	\N	\N	EFO	2	EFO	cell line	GM14501 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031504	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557490	\N	\N	EFO	2	EFO	cell line	GM14501 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031504	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	1139820	\N	\N	EFO	3	EFO	material entity	GM14501 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031504	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	2022874	\N	\N	EFO	4	EFO	experimental factor	GM14501 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031509	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031509	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63917	\N	\N	EFO	0	EFO	GM14503 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14503 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031509	\N	"" []	CLO:0031509	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204460	\N	\N	EFO	1	EFO	B cell derived cell line	GM14503 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031509	\N	"" []	CLO:0031509	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204461	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14503 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031509	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557491	\N	\N	EFO	2	EFO	cell line	GM14503 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031509	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557492	\N	\N	EFO	2	EFO	cell line	GM14503 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031509	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139821	\N	\N	EFO	3	EFO	material entity	GM14503 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031509	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022875	\N	\N	EFO	4	EFO	experimental factor	GM14503 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031510	\N	\N	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	CLO:0031510	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	63918	\N	\N	EFO	0	EFO	GM14502 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14502 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031510	\N	"" []	CLO:0031510	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204462	\N	\N	EFO	1	EFO	B cell derived cell line	GM14502 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031510	\N	"" []	CLO:0031510	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204463	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14502 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031510	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557493	\N	\N	EFO	2	EFO	cell line	GM14502 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031510	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557494	\N	\N	EFO	2	EFO	cell line	GM14502 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031510	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	1139822	\N	\N	EFO	3	EFO	material entity	GM14502 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031510	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	2022876	\N	\N	EFO	4	EFO	experimental factor	GM14502 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031516	\N	\N	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	CLO:0031516	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	63919	\N	\N	EFO	0	EFO	GM14504 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14504 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031516	\N	"" []	CLO:0031516	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204464	\N	\N	EFO	1	EFO	B cell derived cell line	GM14504 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031516	\N	"" []	CLO:0031516	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204465	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14504 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031516	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557495	\N	\N	EFO	2	EFO	cell line	GM14504 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031516	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557496	\N	\N	EFO	2	EFO	cell line	GM14504 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031516	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	1139823	\N	\N	EFO	3	EFO	material entity	GM14504 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031516	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	2022877	\N	\N	EFO	4	EFO	experimental factor	GM14504 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031517	\N	\N	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031517	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63920	\N	\N	EFO	0	EFO	GM14507 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14507 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031517	\N	"" []	CLO:0031517	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204466	\N	\N	EFO	1	EFO	B cell derived cell line	GM14507 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031517	\N	"" []	CLO:0031517	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204467	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14507 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031517	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557497	\N	\N	EFO	2	EFO	cell line	GM14507 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031517	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557498	\N	\N	EFO	2	EFO	cell line	GM14507 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031517	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139824	\N	\N	EFO	3	EFO	material entity	GM14507 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031517	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022878	\N	\N	EFO	4	EFO	experimental factor	GM14507 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031519	\N	\N	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031519	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63921	\N	\N	EFO	0	EFO	GM14506 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14506 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031519	\N	"" []	CLO:0031519	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204468	\N	\N	EFO	1	EFO	B cell derived cell line	GM14506 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031519	\N	"" []	CLO:0031519	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204469	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14506 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031519	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557499	\N	\N	EFO	2	EFO	cell line	GM14506 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031519	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557500	\N	\N	EFO	2	EFO	cell line	GM14506 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031519	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139825	\N	\N	EFO	3	EFO	material entity	GM14506 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031519	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022879	\N	\N	EFO	4	EFO	experimental factor	GM14506 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031529	\N	\N	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	CLO:0031529	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	63922	\N	\N	EFO	0	EFO	GM14478 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14478 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031529	\N	"" []	CLO:0031529	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204470	\N	\N	EFO	1	EFO	B cell derived cell line	GM14478 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031529	\N	"" []	CLO:0031529	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204471	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14478 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031529	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557501	\N	\N	EFO	2	EFO	cell line	GM14478 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031529	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557502	\N	\N	EFO	2	EFO	cell line	GM14478 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031529	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	1139826	\N	\N	EFO	3	EFO	material entity	GM14478 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031529	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	2022880	\N	\N	EFO	4	EFO	experimental factor	GM14478 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031531	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031531	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63923	\N	\N	EFO	0	EFO	GM14477 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14477 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031531	\N	"" []	CLO:0031531	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204472	\N	\N	EFO	1	EFO	B cell derived cell line	GM14477 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031531	\N	"" []	CLO:0031531	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204473	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14477 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031531	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557503	\N	\N	EFO	2	EFO	cell line	GM14477 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031531	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557504	\N	\N	EFO	2	EFO	cell line	GM14477 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031531	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139827	\N	\N	EFO	3	EFO	material entity	GM14477 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031531	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022881	\N	\N	EFO	4	EFO	experimental factor	GM14477 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031533	\N	\N	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031533	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63924	\N	\N	EFO	0	EFO	GM14481 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14481 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031533	\N	"" []	CLO:0031533	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204474	\N	\N	EFO	1	EFO	B cell derived cell line	GM14481 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031533	\N	"" []	CLO:0031533	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204475	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14481 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031533	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557505	\N	\N	EFO	2	EFO	cell line	GM14481 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031533	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557506	\N	\N	EFO	2	EFO	cell line	GM14481 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031533	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139828	\N	\N	EFO	3	EFO	material entity	GM14481 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031533	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022882	\N	\N	EFO	4	EFO	experimental factor	GM14481 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031534	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031534	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63925	\N	\N	EFO	0	EFO	GM14480 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14480 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031534	\N	"" []	CLO:0031534	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204476	\N	\N	EFO	1	EFO	B cell derived cell line	GM14480 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031534	\N	"" []	CLO:0031534	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204477	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14480 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031534	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557507	\N	\N	EFO	2	EFO	cell line	GM14480 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031534	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557508	\N	\N	EFO	2	EFO	cell line	GM14480 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031534	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139829	\N	\N	EFO	3	EFO	material entity	GM14480 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031534	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022883	\N	\N	EFO	4	EFO	experimental factor	GM14480 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031535	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031535	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63926	\N	\N	EFO	0	EFO	GM14479 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14479 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031535	\N	"" []	CLO:0031535	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204478	\N	\N	EFO	1	EFO	B cell derived cell line	GM14479 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031535	\N	"" []	CLO:0031535	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204479	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14479 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031535	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557509	\N	\N	EFO	2	EFO	cell line	GM14479 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031535	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557510	\N	\N	EFO	2	EFO	cell line	GM14479 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031535	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139830	\N	\N	EFO	3	EFO	material entity	GM14479 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031535	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022884	\N	\N	EFO	4	EFO	experimental factor	GM14479 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031580	\N	\N	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	CLO:0031580	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	63927	\N	\N	EFO	0	EFO	GM14568 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14568 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031580	\N	"" []	CLO:0031580	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204480	\N	\N	EFO	1	EFO	B cell derived cell line	GM14568 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031580	\N	"" []	CLO:0031580	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204481	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14568 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031580	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557511	\N	\N	EFO	2	EFO	cell line	GM14568 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031580	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557512	\N	\N	EFO	2	EFO	cell line	GM14568 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031580	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	1139831	\N	\N	EFO	3	EFO	material entity	GM14568 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031580	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	2022885	\N	\N	EFO	4	EFO	experimental factor	GM14568 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031581	\N	\N	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	CLO:0031581	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	63928	\N	\N	EFO	0	EFO	GM14569 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14569 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031581	\N	"" []	CLO:0031581	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	204482	\N	\N	EFO	1	EFO	B cell derived cell line	GM14569 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031581	\N	"" []	CLO:0031581	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	204483	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14569 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031581	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	557513	\N	\N	EFO	2	EFO	cell line	GM14569 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031581	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	557514	\N	\N	EFO	2	EFO	cell line	GM14569 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031581	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	1139832	\N	\N	EFO	3	EFO	material entity	GM14569 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031581	"APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS" []	2022886	\N	\N	EFO	4	EFO	experimental factor	GM14569 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031585	\N	\N	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	CLO:0031585	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	63929	\N	\N	EFO	0	EFO	GM14581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031585	\N	"" []	CLO:0031585	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	204484	\N	\N	EFO	1	EFO	B cell derived cell line	GM14581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031585	\N	"" []	CLO:0031585	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	204485	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031585	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	557515	\N	\N	EFO	2	EFO	cell line	GM14581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031585	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	557516	\N	\N	EFO	2	EFO	cell line	GM14581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031585	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	1139833	\N	\N	EFO	3	EFO	material entity	GM14581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031585	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	2022887	\N	\N	EFO	4	EFO	experimental factor	GM14581 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031600	\N	\N	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	CLO:0031600	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	63930	\N	\N	EFO	0	EFO	GM14535 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14535 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031600	\N	"" []	CLO:0031600	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	204486	\N	\N	EFO	1	EFO	B cell derived cell line	GM14535 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031600	\N	"" []	CLO:0031600	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	204487	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14535 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031600	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	557517	\N	\N	EFO	2	EFO	cell line	GM14535 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031600	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	557518	\N	\N	EFO	2	EFO	cell line	GM14535 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031600	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	1139834	\N	\N	EFO	3	EFO	material entity	GM14535 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031600	"APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS" []	2022888	\N	\N	EFO	4	EFO	experimental factor	GM14535 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031601	\N	\N	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	CLO:0031601	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	63931	\N	\N	EFO	0	EFO	GM14536 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14536 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031601	\N	"" []	CLO:0031601	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204488	\N	\N	EFO	1	EFO	B cell derived cell line	GM14536 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031601	\N	"" []	CLO:0031601	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204489	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14536 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031601	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557519	\N	\N	EFO	2	EFO	cell line	GM14536 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031601	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557520	\N	\N	EFO	2	EFO	cell line	GM14536 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031601	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	1139835	\N	\N	EFO	3	EFO	material entity	GM14536 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031601	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	2022889	\N	\N	EFO	4	EFO	experimental factor	GM14536 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031606	\N	\N	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031606	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63932	\N	\N	EFO	0	EFO	GM14532 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14532 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031606	\N	"" []	CLO:0031606	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204490	\N	\N	EFO	1	EFO	B cell derived cell line	GM14532 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031606	\N	"" []	CLO:0031606	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204491	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14532 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031606	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557521	\N	\N	EFO	2	EFO	cell line	GM14532 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031606	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557522	\N	\N	EFO	2	EFO	cell line	GM14532 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031606	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139836	\N	\N	EFO	3	EFO	material entity	GM14532 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031606	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022890	\N	\N	EFO	4	EFO	experimental factor	GM14532 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031607	\N	\N	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	CLO:0031607	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	63933	\N	\N	EFO	0	EFO	GM14533 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14533 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031607	\N	"" []	CLO:0031607	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204492	\N	\N	EFO	1	EFO	B cell derived cell line	GM14533 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031607	\N	"" []	CLO:0031607	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204493	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14533 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031607	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557523	\N	\N	EFO	2	EFO	cell line	GM14533 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031607	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557524	\N	\N	EFO	2	EFO	cell line	GM14533 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031607	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	1139837	\N	\N	EFO	3	EFO	material entity	GM14533 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031607	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	2022891	\N	\N	EFO	4	EFO	experimental factor	GM14533 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031609	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031609	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63934	\N	\N	EFO	0	EFO	GM14509 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14509 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031609	\N	"" []	CLO:0031609	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204494	\N	\N	EFO	1	EFO	B cell derived cell line	GM14509 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031609	\N	"" []	CLO:0031609	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204495	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14509 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031609	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557525	\N	\N	EFO	2	EFO	cell line	GM14509 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031609	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557526	\N	\N	EFO	2	EFO	cell line	GM14509 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031609	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139838	\N	\N	EFO	3	EFO	material entity	GM14509 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031609	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022892	\N	\N	EFO	4	EFO	experimental factor	GM14509 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031610	\N	\N	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031610	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63935	\N	\N	EFO	0	EFO	GM14508 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14508 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031610	\N	"" []	CLO:0031610	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204496	\N	\N	EFO	1	EFO	B cell derived cell line	GM14508 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031610	\N	"" []	CLO:0031610	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204497	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14508 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031610	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557527	\N	\N	EFO	2	EFO	cell line	GM14508 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031610	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557528	\N	\N	EFO	2	EFO	cell line	GM14508 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031610	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139839	\N	\N	EFO	3	EFO	material entity	GM14508 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031610	"MONOZYGOTIC TWIN PAIRS NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022893	\N	\N	EFO	4	EFO	experimental factor	GM14508 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031611	\N	\N	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031611	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63936	\N	\N	EFO	0	EFO	GM14520 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14520 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031611	\N	"" []	CLO:0031611	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204498	\N	\N	EFO	1	EFO	B cell derived cell line	GM14520 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031611	\N	"" []	CLO:0031611	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204499	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14520 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031611	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557529	\N	\N	EFO	2	EFO	cell line	GM14520 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031611	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557530	\N	\N	EFO	2	EFO	cell line	GM14520 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031611	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139840	\N	\N	EFO	3	EFO	material entity	GM14520 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031611	"NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022894	\N	\N	EFO	4	EFO	experimental factor	GM14520 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031612	\N	\N	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	CLO:0031612	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	63937	\N	\N	EFO	0	EFO	GM14521 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14521 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031612	\N	"" []	CLO:0031612	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204500	\N	\N	EFO	1	EFO	B cell derived cell line	GM14521 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031612	\N	"" []	CLO:0031612	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204501	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14521 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031612	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557531	\N	\N	EFO	2	EFO	cell line	GM14521 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031612	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557532	\N	\N	EFO	2	EFO	cell line	GM14521 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031612	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	1139841	\N	\N	EFO	3	EFO	material entity	GM14521 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031612	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	2022895	\N	\N	EFO	4	EFO	experimental factor	GM14521 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031665	\N	\N	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	CLO:0031665	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	63938	\N	\N	EFO	0	EFO	GM14583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031665	\N	"" []	CLO:0031665	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204502	\N	\N	EFO	1	EFO	B cell derived cell line	GM14583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031665	\N	"" []	CLO:0031665	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204503	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031665	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557533	\N	\N	EFO	2	EFO	cell line	GM14583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031665	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557534	\N	\N	EFO	2	EFO	cell line	GM14583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031665	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	1139842	\N	\N	EFO	3	EFO	material entity	GM14583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031665	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	2022896	\N	\N	EFO	4	EFO	experimental factor	GM14583 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031666	\N	\N	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	CLO:0031666	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	63939	\N	\N	EFO	0	EFO	GM14582 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14582 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031666	\N	"" []	CLO:0031666	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204504	\N	\N	EFO	1	EFO	B cell derived cell line	GM14582 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031666	\N	"" []	CLO:0031666	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	204505	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14582 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031666	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557535	\N	\N	EFO	2	EFO	cell line	GM14582 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031666	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	557536	\N	\N	EFO	2	EFO	cell line	GM14582 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031666	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	1139843	\N	\N	EFO	3	EFO	material entity	GM14582 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031666	"MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE NON-OBESE CONTROLS" []	2022897	\N	\N	EFO	4	EFO	experimental factor	GM14582 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031668	\N	\N	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	CLO:0031668	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	63940	\N	\N	EFO	0	EFO	GM14584 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14584 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031668	\N	"" []	CLO:0031668	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204506	\N	\N	EFO	1	EFO	B cell derived cell line	GM14584 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031668	\N	"" []	CLO:0031668	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	204507	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14584 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031668	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557537	\N	\N	EFO	2	EFO	cell line	GM14584 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031668	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	557538	\N	\N	EFO	2	EFO	cell line	GM14584 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031668	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	1139844	\N	\N	EFO	3	EFO	material entity	GM14584 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031668	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE MONOZYGOTIC TWIN PAIRS" []	2022898	\N	\N	EFO	4	EFO	experimental factor	GM14584 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0031953	\N	\N	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	CLO:0031953	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	63941	\N	\N	EFO	0	EFO	GM14679 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14679 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0031953	\N	"" []	CLO:0031953	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204508	\N	\N	EFO	1	EFO	B cell derived cell line	GM14679 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0031953	\N	"" []	CLO:0031953	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	204509	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14679 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031953	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557539	\N	\N	EFO	2	EFO	cell line	GM14679 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0031953	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	557540	\N	\N	EFO	2	EFO	cell line	GM14679 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0031953	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	1139845	\N	\N	EFO	3	EFO	material entity	GM14679 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0031953	"NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE" []	2022899	\N	\N	EFO	4	EFO	experimental factor	GM14679 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0032601	\N	\N	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	CLO:0032601	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	63942	\N	\N	EFO	0	EFO	ND04158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND04158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0032601	\N	"" []	CLO:0032601	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	204510	\N	\N	EFO	1	EFO	B cell derived cell line	ND04158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0032601	\N	"" []	CLO:0032601	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	204511	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND04158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0032601	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	557541	\N	\N	EFO	2	EFO	cell line	ND04158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0032601	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	557542	\N	\N	EFO	2	EFO	cell line	ND04158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0032601	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	1139846	\N	\N	EFO	3	EFO	material entity	ND04158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0032601	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	2022900	\N	\N	EFO	4	EFO	experimental factor	ND04158 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0032713	\N	\N	"COLORECTAL CANCER, FAMILIAL" []	CLO:0032713	"COLORECTAL CANCER, FAMILIAL" []	63943	\N	\N	EFO	0	EFO	GM13649 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM13649 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0032713	\N	"" []	CLO:0032713	"COLORECTAL CANCER, FAMILIAL" []	204512	\N	\N	EFO	1	EFO	B cell derived cell line	GM13649 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0032713	\N	"" []	CLO:0032713	"COLORECTAL CANCER, FAMILIAL" []	204513	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM13649 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0032713	"COLORECTAL CANCER, FAMILIAL" []	557543	\N	\N	EFO	2	EFO	cell line	GM13649 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0032713	"COLORECTAL CANCER, FAMILIAL" []	557544	\N	\N	EFO	2	EFO	cell line	GM13649 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0032713	"COLORECTAL CANCER, FAMILIAL" []	1139847	\N	\N	EFO	3	EFO	material entity	GM13649 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0032713	"COLORECTAL CANCER, FAMILIAL" []	2022901	\N	\N	EFO	4	EFO	experimental factor	GM13649 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0033199	\N	\N	"ATAXIA-TELANGIECTASIA; AT" []	CLO:0033199	"ATAXIA-TELANGIECTASIA; AT" []	63944	\N	\N	EFO	0	EFO	GM13883 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM13883 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0033199	\N	"" []	CLO:0033199	"ATAXIA-TELANGIECTASIA; AT" []	204514	\N	\N	EFO	1	EFO	B cell derived cell line	GM13883 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0033199	\N	"" []	CLO:0033199	"ATAXIA-TELANGIECTASIA; AT" []	204515	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM13883 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0033199	"ATAXIA-TELANGIECTASIA; AT" []	557545	\N	\N	EFO	2	EFO	cell line	GM13883 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0033199	"ATAXIA-TELANGIECTASIA; AT" []	557546	\N	\N	EFO	2	EFO	cell line	GM13883 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0033199	"ATAXIA-TELANGIECTASIA; AT" []	1139848	\N	\N	EFO	3	EFO	material entity	GM13883 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0033199	"ATAXIA-TELANGIECTASIA; AT" []	2022902	\N	\N	EFO	4	EFO	experimental factor	GM13883 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0033570	\N	\N	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	CLO:0033570	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	63945	\N	\N	EFO	0	EFO	AG08048 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG08048 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0033570	\N	"" []	CLO:0033570	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204516	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG08048 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0033570	\N	"" []	CLO:0033570	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204517	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG08048 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0033570	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557547	\N	\N	EFO	2	EFO	cell line	AG08048 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0033570	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557548	\N	\N	EFO	2	EFO	cell line	AG08048 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0033570	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	1139849	\N	\N	EFO	3	EFO	material entity	AG08048 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0033570	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	2022903	\N	\N	EFO	4	EFO	experimental factor	AG08048 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0033577	\N	\N	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	CLO:0033577	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	63946	\N	\N	EFO	0	EFO	AG08046 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG08046 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0033577	\N	"" []	CLO:0033577	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204518	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG08046 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0033577	\N	"" []	CLO:0033577	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204519	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG08046 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0033577	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557549	\N	\N	EFO	2	EFO	cell line	AG08046 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0033577	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557550	\N	\N	EFO	2	EFO	cell line	AG08046 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0033577	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	1139850	\N	\N	EFO	3	EFO	material entity	AG08046 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0033577	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	2022904	\N	\N	EFO	4	EFO	experimental factor	AG08046 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0033628	\N	\N	"ATAXIA-TELANGIECTASIA; AT" []	CLO:0033628	"ATAXIA-TELANGIECTASIA; AT" []	63947	\N	\N	EFO	0	EFO	GM13811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM13811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0033628	\N	"" []	CLO:0033628	"ATAXIA-TELANGIECTASIA; AT" []	204520	\N	\N	EFO	1	EFO	B cell derived cell line	GM13811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0033628	\N	"" []	CLO:0033628	"ATAXIA-TELANGIECTASIA; AT" []	204521	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM13811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0033628	"ATAXIA-TELANGIECTASIA; AT" []	557551	\N	\N	EFO	2	EFO	cell line	GM13811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0033628	"ATAXIA-TELANGIECTASIA; AT" []	557552	\N	\N	EFO	2	EFO	cell line	GM13811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0033628	"ATAXIA-TELANGIECTASIA; AT" []	1139851	\N	\N	EFO	3	EFO	material entity	GM13811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0033628	"ATAXIA-TELANGIECTASIA; AT" []	2022905	\N	\N	EFO	4	EFO	experimental factor	GM13811 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0033747	\N	\N	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	CLO:0033747	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	63948	\N	\N	EFO	0	EFO	ND04424 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ND04424 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0033747	\N	"" []	CLO:0033747	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	204522	\N	\N	EFO	1	EFO	B cell derived cell line	ND04424 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0033747	\N	"" []	CLO:0033747	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	204523	\N	\N	EFO	1	EFO	Homo sapiens cell line	ND04424 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0033747	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	557553	\N	\N	EFO	2	EFO	cell line	ND04424 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0033747	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	557554	\N	\N	EFO	2	EFO	cell line	ND04424 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0033747	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	1139852	\N	\N	EFO	3	EFO	material entity	ND04424 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0033747	"PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSON'S DISEASE" []	2022906	\N	\N	EFO	4	EFO	experimental factor	ND04424 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0033909	\N	\N	"ATAXIA-TELANGIECTASIA; AT" []	CLO:0033909	"ATAXIA-TELANGIECTASIA; AT" []	63949	\N	\N	EFO	0	EFO	GM13995 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM13995 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0033909	\N	"" []	CLO:0033909	"ATAXIA-TELANGIECTASIA; AT" []	204524	\N	\N	EFO	1	EFO	B cell derived cell line	GM13995 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0033909	\N	"" []	CLO:0033909	"ATAXIA-TELANGIECTASIA; AT" []	204525	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM13995 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0033909	"ATAXIA-TELANGIECTASIA; AT" []	557555	\N	\N	EFO	2	EFO	cell line	GM13995 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0033909	"ATAXIA-TELANGIECTASIA; AT" []	557556	\N	\N	EFO	2	EFO	cell line	GM13995 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0033909	"ATAXIA-TELANGIECTASIA; AT" []	1139853	\N	\N	EFO	3	EFO	material entity	GM13995 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0033909	"ATAXIA-TELANGIECTASIA; AT" []	2022907	\N	\N	EFO	4	EFO	experimental factor	GM13995 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0034375	\N	\N	"ATAXIA-TELANGIECTASIA; AT" []	CLO:0034375	"ATAXIA-TELANGIECTASIA; AT" []	63950	\N	\N	EFO	0	EFO	GM14153 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM14153 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0034375	\N	"" []	CLO:0034375	"ATAXIA-TELANGIECTASIA; AT" []	204526	\N	\N	EFO	1	EFO	B cell derived cell line	GM14153 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0034375	\N	"" []	CLO:0034375	"ATAXIA-TELANGIECTASIA; AT" []	204527	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM14153 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0034375	"ATAXIA-TELANGIECTASIA; AT" []	557557	\N	\N	EFO	2	EFO	cell line	GM14153 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0034375	"ATAXIA-TELANGIECTASIA; AT" []	557558	\N	\N	EFO	2	EFO	cell line	GM14153 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0034375	"ATAXIA-TELANGIECTASIA; AT" []	1139854	\N	\N	EFO	3	EFO	material entity	GM14153 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0034375	"ATAXIA-TELANGIECTASIA; AT" []	2022908	\N	\N	EFO	4	EFO	experimental factor	GM14153 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0034780	\N	\N	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	CLO:0034780	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	63951	\N	\N	EFO	0	EFO	AG04147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG04147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0034780	\N	"" []	CLO:0034780	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204528	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG04147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0034780	\N	"" []	CLO:0034780	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204529	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG04147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0034780	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557559	\N	\N	EFO	2	EFO	cell line	AG04147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0034780	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557560	\N	\N	EFO	2	EFO	cell line	AG04147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0034780	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	1139855	\N	\N	EFO	3	EFO	material entity	AG04147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0034780	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	2022909	\N	\N	EFO	4	EFO	experimental factor	AG04147 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0034796	\N	\N	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	CLO:0034796	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	63952	\N	\N	EFO	0	EFO	AG04351 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG04351 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0034796	\N	"" []	CLO:0034796	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204530	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG04351 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0034796	\N	"" []	CLO:0034796	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204531	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG04351 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0034796	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557561	\N	\N	EFO	2	EFO	cell line	AG04351 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0034796	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557562	\N	\N	EFO	2	EFO	cell line	AG04351 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0034796	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	1139856	\N	\N	EFO	3	EFO	material entity	AG04351 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0034796	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	2022910	\N	\N	EFO	4	EFO	experimental factor	AG04351 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0034915	\N	\N	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	CLO:0034915	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	63953	\N	\N	EFO	0	EFO	AG04655 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG04655 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0034915	\N	"" []	CLO:0034915	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204532	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG04655 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0034915	\N	"" []	CLO:0034915	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204533	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG04655 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0034915	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557563	\N	\N	EFO	2	EFO	cell line	AG04655 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0034915	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557564	\N	\N	EFO	2	EFO	cell line	AG04655 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0034915	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	1139857	\N	\N	EFO	3	EFO	material entity	AG04655 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0034915	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	2022911	\N	\N	EFO	4	EFO	experimental factor	AG04655 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0035232	\N	\N	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	CLO:0035232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	63954	\N	\N	EFO	0	EFO	AG05416 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG05416 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0035232	\N	"" []	CLO:0035232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204534	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG05416 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0035232	\N	"" []	CLO:0035232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204535	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG05416 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0035232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557565	\N	\N	EFO	2	EFO	cell line	AG05416 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0035232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557566	\N	\N	EFO	2	EFO	cell line	AG05416 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0035232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	1139858	\N	\N	EFO	3	EFO	material entity	AG05416 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0035232	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	2022912	\N	\N	EFO	4	EFO	experimental factor	AG05416 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0035254	\N	\N	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	CLO:0035254	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	63955	\N	\N	EFO	0	EFO	AG06237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG06237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0035254	\N	"" []	CLO:0035254	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204536	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG06237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0035254	\N	"" []	CLO:0035254	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204537	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG06237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0035254	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557567	\N	\N	EFO	2	EFO	cell line	AG06237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0035254	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557568	\N	\N	EFO	2	EFO	cell line	AG06237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0035254	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	1139859	\N	\N	EFO	3	EFO	material entity	AG06237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0035254	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	2022913	\N	\N	EFO	4	EFO	experimental factor	AG06237 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0035579	\N	\N	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	CLO:0035579	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	63956	\N	\N	EFO	0	EFO	AG07307 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG07307 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0035579	\N	"" []	CLO:0035579	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204538	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG07307 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0035579	\N	"" []	CLO:0035579	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	204539	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG07307 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0035579	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557569	\N	\N	EFO	2	EFO	cell line	AG07307 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0035579	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	557570	\N	\N	EFO	2	EFO	cell line	AG07307 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0035579	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	1139860	\N	\N	EFO	3	EFO	material entity	AG07307 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0035579	"BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION" []	2022914	\N	\N	EFO	4	EFO	experimental factor	AG07307 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0035608	\N	\N	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	CLO:0035608	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	63957	\N	\N	EFO	0	EFO	AG07139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	AG07139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0035608	\N	"" []	CLO:0035608	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204540	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG07139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0035608	\N	"" []	CLO:0035608	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	204541	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG07139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0035608	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557571	\N	\N	EFO	2	EFO	cell line	AG07139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0035608	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	557572	\N	\N	EFO	2	EFO	cell line	AG07139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0035608	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	1139861	\N	\N	EFO	3	EFO	material entity	AG07139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0035608	"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" []	2022915	\N	\N	EFO	4	EFO	experimental factor	AG07139 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0036460	\N	\N	"TRANSLOCATED CHROMOSOME" []	CLO:0036460	"TRANSLOCATED CHROMOSOME" []	63958	\N	\N	EFO	0	EFO	GM06944 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM06944 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	CLO:0036460	\N	"" []	CLO:0036460	"TRANSLOCATED CHROMOSOME" []	204542	\N	\N	EFO	1	EFO	fibroblast derived cell line	GM06944 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0036460	\N	"" []	CLO:0036460	"TRANSLOCATED CHROMOSOME" []	204543	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM06944 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0036460	"TRANSLOCATED CHROMOSOME" []	557573	\N	\N	EFO	2	EFO	cell line	GM06944 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0036460	"TRANSLOCATED CHROMOSOME" []	557574	\N	\N	EFO	2	EFO	cell line	GM06944 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0036460	"TRANSLOCATED CHROMOSOME" []	1139862	\N	\N	EFO	3	EFO	material entity	GM06944 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0036460	"TRANSLOCATED CHROMOSOME" []	2022916	\N	\N	EFO	4	EFO	experimental factor	GM06944 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
CLO:0036870	\N	\N	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1340 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	CLO:0036870	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1340 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	63959	\N	\N	EFO	0	EFO	GM07029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	GM07029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001640	CLO:0036870	\N	"" []	CLO:0036870	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1340 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	204544	\N	\N	EFO	1	EFO	B cell derived cell line	GM07029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	CLO:0036870	\N	"" []	CLO:0036870	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1340 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	204545	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM07029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0036870	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1340 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	557575	\N	\N	EFO	2	EFO	cell line	GM07029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	CLO:0036870	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1340 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	557576	\N	\N	EFO	2	EFO	cell line	GM07029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	CLO:0036870	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1340 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	1139863	\N	\N	EFO	3	EFO	material entity	GM07029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	CLO:0036870	"INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1340 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" []	2022917	\N	\N	EFO	4	EFO	experimental factor	GM07029 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
DOID:0050890	\N	\N	"A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" []	DOID:0050890	"A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" []	63960	\N	\N	EFO	0	EFO	synucleinopathy	synucleinopathy
EFO:0005772	DOID:0050890	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	DOID:0050890	"A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" []	204546	\N	\N	EFO	1	EFO	neurodegenerative disease	synucleinopathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	DOID:0050890	"A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" []	557577	\N	\N	EFO	2	EFO	nervous system disease	synucleinopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	DOID:0050890	"A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" []	1139864	\N	\N	EFO	3	EFO	disease	synucleinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	DOID:0050890	"A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" []	2022918	\N	\N	EFO	4	EFO	disposition	synucleinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	DOID:0050890	"A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" []	3176943	\N	\N	EFO	5	EFO	material property	synucleinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	DOID:0050890	"A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" []	4387473	\N	\N	EFO	6	EFO	experimental factor	synucleinopathy
DOID:10113	\N	\N	"A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." []	DOID:10113	"A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." []	63961	\N	\N	EFO	0	EFO	trypanosomiasis	trypanosomiasis
EFO:0001067	DOID:10113	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	DOID:10113	"A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." []	204547	\N	\N	EFO	1	EFO	parasitic infection	trypanosomiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	DOID:10113	"A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." []	557578	\N	\N	EFO	2	EFO	infectious disease	trypanosomiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	DOID:10113	"A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." []	1139865	\N	\N	EFO	3	EFO	disease	trypanosomiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	DOID:10113	"A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." []	2022919	\N	\N	EFO	4	EFO	disposition	trypanosomiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	DOID:10113	"A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." []	3176944	\N	\N	EFO	5	EFO	material property	trypanosomiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	DOID:10113	"A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." []	4387474	\N	\N	EFO	6	EFO	experimental factor	trypanosomiasis
DOID:10718	\N	\N	"A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." []	DOID:10718	"A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." []	63962	\N	\N	EFO	0	EFO	giardiasis	giardiasis
EFO:0001067	DOID:10718	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	DOID:10718	"A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." []	204548	\N	\N	EFO	1	EFO	parasitic infection	giardiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	DOID:10718	"A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." []	557579	\N	\N	EFO	2	EFO	infectious disease	giardiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	DOID:10718	"A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." []	1139866	\N	\N	EFO	3	EFO	disease	giardiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	DOID:10718	"A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." []	2022920	\N	\N	EFO	4	EFO	disposition	giardiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	DOID:10718	"A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." []	3176945	\N	\N	EFO	5	EFO	material property	giardiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	DOID:10718	"A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." []	4387475	\N	\N	EFO	6	EFO	experimental factor	giardiasis
DOID:13406	\N	\N	"" []	DOID:13406	"" []	63963	\N	\N	EFO	0	EFO	pulmonary sarcoidosis	pulmonary sarcoidosis
Orphanet:797	DOID:13406	\N	"" []	DOID:13406	"" []	204549	\N	\N	EFO	1	EFO	Sarcoidosis	pulmonary sarcoidosis
EFO:0003818	Orphanet:797	\N	"Pathological processes involving any part of the LUNG." []	DOID:13406	"" []	557580	\N	\N	EFO	2	EFO	lung disease	pulmonary sarcoidosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	DOID:13406	"" []	1139867	\N	\N	EFO	3	EFO	respiratory system disease	pulmonary sarcoidosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	DOID:13406	"" []	2022921	\N	\N	EFO	4	EFO	disease	pulmonary sarcoidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	DOID:13406	"" []	3176946	\N	\N	EFO	5	EFO	disposition	pulmonary sarcoidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	DOID:13406	"" []	4387476	\N	\N	EFO	6	EFO	material property	pulmonary sarcoidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	DOID:13406	"" []	5408474	\N	\N	EFO	7	EFO	experimental factor	pulmonary sarcoidosis
DOID:1947	\N	\N	"A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." []	DOID:1947	"A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." []	63964	\N	\N	EFO	0	EFO	trichomoniasis	trichomoniasis
EFO:0001067	DOID:1947	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	DOID:1947	"A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." []	204550	\N	\N	EFO	1	EFO	parasitic infection	trichomoniasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	DOID:1947	"A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." []	557581	\N	\N	EFO	2	EFO	infectious disease	trichomoniasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	DOID:1947	"A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." []	1139868	\N	\N	EFO	3	EFO	disease	trichomoniasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	DOID:1947	"A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." []	2022922	\N	\N	EFO	4	EFO	disposition	trichomoniasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	DOID:1947	"A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." []	3176947	\N	\N	EFO	5	EFO	material property	trichomoniasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	DOID:1947	"A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." []	4387477	\N	\N	EFO	6	EFO	experimental factor	trichomoniasis
DOID:7551	\N	\N	"A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods." []	DOID:7551	"A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods." []	63965	\N	\N	EFO	0	EFO	gonorrhea	gonorrhea
EFO:0000771	DOID:7551	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	DOID:7551	"A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods." []	204551	\N	\N	EFO	1	EFO	bacterial disease	gonorrhea
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	DOID:7551	"A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods." []	557582	\N	\N	EFO	2	EFO	infectious disease	gonorrhea
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	DOID:7551	"A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods." []	1139869	\N	\N	EFO	3	EFO	disease	gonorrhea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	DOID:7551	"A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods." []	2022923	\N	\N	EFO	4	EFO	disposition	gonorrhea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	DOID:7551	"A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods." []	3176948	\N	\N	EFO	5	EFO	material property	gonorrhea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	DOID:7551	"A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods." []	4387478	\N	\N	EFO	6	EFO	experimental factor	gonorrhea
EFO:0000001	\N	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000001	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	63966	\N	\N	EFO	0	EFO	experimental factor	experimental factor
EFO:0000002	\N	\N	"CS57511 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311932." []	EFO:0000002	"CS57511 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311932." []	63967	\N	\N	EFO	0	EFO	CS57511	CS57511
NCBITaxon:3702	\N	\N	"" []	EFO:0000002	"CS57511 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311932." []	194272	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57511
EFO:0000003	\N	\N	"CS57512 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311933" []	EFO:0000003	"CS57512 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311933" []	63968	\N	\N	EFO	0	EFO	CS57512	CS57512
NCBITaxon:3702	\N	\N	"" []	EFO:0000003	"CS57512 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311933" []	194273	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57512
EFO:0000004	\N	\N	"CS57515 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311936" []	EFO:0000004	"CS57515 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311936" []	63969	\N	\N	EFO	0	EFO	CS57515	CS57515
NCBITaxon:3702	\N	\N	"" []	EFO:0000004	"CS57515 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311936" []	194274	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57515
EFO:0000005	\N	\N	"CS57520 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311941" []	EFO:0000005	"CS57520 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311941" []	63970	\N	\N	EFO	0	EFO	CS57520	CS57520
NCBITaxon:3702	\N	\N	"" []	EFO:0000005	"CS57520 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311941" []	194275	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57520
EFO:0000006	\N	\N	"CS57521 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=1005152522" []	EFO:0000006	"CS57521 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=1005152522" []	63971	\N	\N	EFO	0	EFO	CS57521	CS57521
NCBITaxon:3702	\N	\N	"" []	EFO:0000006	"CS57521 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=1005152522" []	194276	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57521
EFO:0000007	\N	\N	"CS57537 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311958" []	EFO:0000007	"CS57537 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311958" []	63972	\N	\N	EFO	0	EFO	CS57537	CS57537
NCBITaxon:3702	\N	\N	"" []	EFO:0000007	"CS57537 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311958" []	194277	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57537
EFO:0000008	\N	\N	"CS57541 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158565&type=germplasm" []	EFO:0000008	"CS57541 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158565&type=germplasm" []	63973	\N	\N	EFO	0	EFO	CS57541	CS57541
NCBITaxon:3702	\N	\N	"" []	EFO:0000008	"CS57541 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158565&type=germplasm" []	194278	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57541
EFO:0000009	\N	\N	"CS57543 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158567&type=germplasm" []	EFO:0000009	"CS57543 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158567&type=germplasm" []	63974	\N	\N	EFO	0	EFO	CS57543	CS57543
NCBITaxon:3702	\N	\N	"" []	EFO:0000009	"CS57543 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158567&type=germplasm" []	194279	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57543
EFO:0000010	\N	\N	"CS57544 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158568&type=germplasm" []	EFO:0000010	"CS57544 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158568&type=germplasm" []	63975	\N	\N	EFO	0	EFO	CS57544	CS57544
NCBITaxon:3702	\N	\N	"" []	EFO:0000010	"CS57544 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158568&type=germplasm" []	194280	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57544
EFO:0000011	\N	\N	"CS57548 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158572&type=germplasm" []	EFO:0000011	"CS57548 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158572&type=germplasm" []	63976	\N	\N	EFO	0	EFO	CS57548	CS57548
NCBITaxon:3702	\N	\N	"" []	EFO:0000011	"CS57548 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158572&type=germplasm" []	194281	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57548
EFO:0000012	\N	\N	"CS57549 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158573&type=germplasm" []	EFO:0000012	"CS57549 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158573&type=germplasm" []	63977	\N	\N	EFO	0	EFO	CS57549	CS57549
NCBITaxon:3702	\N	\N	"" []	EFO:0000012	"CS57549 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158573&type=germplasm" []	194282	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57549
EFO:0000013	\N	\N	"CS57551 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158575&type=germplasm" []	EFO:0000013	"CS57551 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158575&type=germplasm" []	63978	\N	\N	EFO	0	EFO	CS57551	CS57551
NCBITaxon:3702	\N	\N	"" []	EFO:0000013	"CS57551 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158575&type=germplasm" []	194283	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57551
EFO:0000014	\N	\N	"CS57556 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158580&type=germplasm" []	EFO:0000014	"CS57556 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158580&type=germplasm" []	63979	\N	\N	EFO	0	EFO	CS57556	CS57556
NCBITaxon:3702	\N	\N	"" []	EFO:0000014	"CS57556 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158580&type=germplasm" []	194284	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57556
EFO:0000015	\N	\N	"CS57560 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158584&type=germplasm" []	EFO:0000015	"CS57560 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158584&type=germplasm" []	63980	\N	\N	EFO	0	EFO	CS57560	CS57560
NCBITaxon:3702	\N	\N	"" []	EFO:0000015	"CS57560 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158584&type=germplasm" []	194285	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57560
EFO:0000016	\N	\N	"CS57563 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311984" []	EFO:0000016	"CS57563 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311984" []	63981	\N	\N	EFO	0	EFO	CS57563	CS57563
NCBITaxon:3702	\N	\N	"" []	EFO:0000016	"CS57563 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311984" []	194286	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57563
EFO:0000017	\N	\N	"CS57569 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158593&type=germplasm" []	EFO:0000017	"CS57569 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158593&type=germplasm" []	63982	\N	\N	EFO	0	EFO	CS57569	CS57569
NCBITaxon:3702	\N	\N	"" []	EFO:0000017	"CS57569 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158593&type=germplasm" []	194287	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57569
EFO:0000018	\N	\N	"CS57570 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158594&type=germplasm" []	EFO:0000018	"CS57570 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158594&type=germplasm" []	63983	\N	\N	EFO	0	EFO	CS57570	CS57570
NCBITaxon:3702	\N	\N	"" []	EFO:0000018	"CS57570 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158594&type=germplasm" []	194288	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57570
EFO:0000019	\N	\N	"CS57572 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158596&type=germplasm" []	EFO:0000019	"CS57572 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158596&type=germplasm" []	63984	\N	\N	EFO	0	EFO	CS57572	CS57572
NCBITaxon:3702	\N	\N	"" []	EFO:0000019	"CS57572 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158596&type=germplasm" []	194289	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57572
EFO:0000020	\N	\N	"CS57580 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158604&type=germplasm" []	EFO:0000020	"CS57580 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158604&type=germplasm" []	63985	\N	\N	EFO	0	EFO	CS57580	CS57580
NCBITaxon:3702	\N	\N	"" []	EFO:0000020	"CS57580 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158604&type=germplasm" []	194290	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57580
EFO:0000021	\N	\N	"CS57581 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158605&type=germplasm" []	EFO:0000021	"CS57581 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158605&type=germplasm" []	63986	\N	\N	EFO	0	EFO	CS57581	CS57581
NCBITaxon:3702	\N	\N	"" []	EFO:0000021	"CS57581 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158605&type=germplasm" []	194291	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57581
EFO:0000022	\N	\N	"CS57583 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158607&type=germplasm" []	EFO:0000022	"CS57583 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158607&type=germplasm" []	63987	\N	\N	EFO	0	EFO	CS57583	CS57583
NCBITaxon:3702	\N	\N	"" []	EFO:0000022	"CS57583 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158607&type=germplasm" []	194292	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57583
EFO:0000023	\N	\N	"CS57586 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158610&type=germplasm" []	EFO:0000023	"CS57586 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158610&type=germplasm" []	63988	\N	\N	EFO	0	EFO	CS57586	CS57586
NCBITaxon:3702	\N	\N	"" []	EFO:0000023	"CS57586 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158610&type=germplasm" []	194293	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57586
EFO:0000024	\N	\N	"CS57587 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158611&type=germplasm" []	EFO:0000024	"CS57587 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158611&type=germplasm" []	63989	\N	\N	EFO	0	EFO	CS57587	CS57587
NCBITaxon:3702	\N	\N	"" []	EFO:0000024	"CS57587 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158611&type=germplasm" []	194294	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57587
EFO:0000025	\N	\N	"CS57591 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158615&type=germplasm" []	EFO:0000025	"CS57591 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158615&type=germplasm" []	63990	\N	\N	EFO	0	EFO	CS57591	CS57591
NCBITaxon:3702	\N	\N	"" []	EFO:0000025	"CS57591 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158615&type=germplasm" []	194295	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57591
EFO:0000026	\N	\N	"CS57595 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158619&type=germplasm" []	EFO:0000026	"CS57595 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158619&type=germplasm" []	63991	\N	\N	EFO	0	EFO	CS57595	CS57595
NCBITaxon:3702	\N	\N	"" []	EFO:0000026	"CS57595 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158619&type=germplasm" []	194296	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57595
EFO:0000027	\N	\N	"CS57596 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158620&type=germplasm" []	EFO:0000027	"CS57596 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158620&type=germplasm" []	63992	\N	\N	EFO	0	EFO	CS57596	CS57596
NCBITaxon:3702	\N	\N	"" []	EFO:0000027	"CS57596 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158620&type=germplasm" []	194297	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57596
EFO:0000028	\N	\N	"CS57598 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158622&type=germplasm" []	EFO:0000028	"CS57598 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158622&type=germplasm" []	63993	\N	\N	EFO	0	EFO	CS57598	CS57598
NCBITaxon:3702	\N	\N	"" []	EFO:0000028	"CS57598 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158622&type=germplasm" []	194298	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57598
EFO:0000029	\N	\N	"CS57601 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158625&type=germplasm" []	EFO:0000029	"CS57601 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158625&type=germplasm" []	63994	\N	\N	EFO	0	EFO	CS57601	CS57601
NCBITaxon:3702	\N	\N	"" []	EFO:0000029	"CS57601 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158625&type=germplasm" []	194299	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57601
EFO:0000030	\N	\N	"CS57603 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158627&type=germplasm" []	EFO:0000030	"CS57603 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158627&type=germplasm" []	63995	\N	\N	EFO	0	EFO	CS57603	CS57603
NCBITaxon:3702	\N	\N	"" []	EFO:0000030	"CS57603 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158627&type=germplasm" []	194300	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57603
EFO:0000031	\N	\N	"CS57606 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158630&type=germplasm" []	EFO:0000031	"CS57606 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158630&type=germplasm" []	63996	\N	\N	EFO	0	EFO	CS57606	CS57606
NCBITaxon:3702	\N	\N	"" []	EFO:0000031	"CS57606 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158630&type=germplasm" []	194301	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57606
EFO:0000032	\N	\N	"CS57610 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158634&type=germplasm" []	EFO:0000032	"CS57610 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158634&type=germplasm" []	63997	\N	\N	EFO	0	EFO	CS57610	CS57610
NCBITaxon:3702	\N	\N	"" []	EFO:0000032	"CS57610 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158634&type=germplasm" []	194302	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57610
EFO:0000033	\N	\N	"CS57615 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158639&type=germplasm" []	EFO:0000033	"CS57615 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158639&type=germplasm" []	63998	\N	\N	EFO	0	EFO	CS57615	CS57615
NCBITaxon:3702	\N	\N	"" []	EFO:0000033	"CS57615 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158639&type=germplasm" []	194303	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57615
EFO:0000034	\N	\N	"CS57616 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158640&type=germplasm" []	EFO:0000034	"CS57616 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158640&type=germplasm" []	63999	\N	\N	EFO	0	EFO	CS57616	CS57616
NCBITaxon:3702	\N	\N	"" []	EFO:0000034	"CS57616 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158640&type=germplasm" []	194304	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57616
EFO:0000035	\N	\N	"CS57618 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158642&type=germplasm" []	EFO:0000035	"CS57618 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158642&type=germplasm" []	64000	\N	\N	EFO	0	EFO	CS57618	CS57618
NCBITaxon:3702	\N	\N	"" []	EFO:0000035	"CS57618 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158642&type=germplasm" []	194305	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57618
EFO:0000036	\N	\N	"CS57619 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158643&type=germplasm" []	EFO:0000036	"CS57619 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158643&type=germplasm" []	64001	\N	\N	EFO	0	EFO	CS57619	CS57619
NCBITaxon:3702	\N	\N	"" []	EFO:0000036	"CS57619 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158643&type=germplasm" []	194306	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57619
EFO:0000037	\N	\N	"CS57620 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158644&type=germplasm" []	EFO:0000037	"CS57620 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158644&type=germplasm" []	64002	\N	\N	EFO	0	EFO	CS57620	CS57620
NCBITaxon:3702	\N	\N	"" []	EFO:0000037	"CS57620 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158644&type=germplasm" []	194307	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57620
EFO:0000038	\N	\N	"CS57621 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158645&type=germplasm" []	EFO:0000038	"CS57621 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158645&type=germplasm" []	64003	\N	\N	EFO	0	EFO	CS57621	CS57621
NCBITaxon:3702	\N	\N	"" []	EFO:0000038	"CS57621 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158645&type=germplasm" []	194308	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57621
EFO:0000039	\N	\N	"CS57622 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158646&type=germplasm" []	EFO:0000039	"CS57622 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158646&type=germplasm" []	64004	\N	\N	EFO	0	EFO	CS57622	CS57622
NCBITaxon:3702	\N	\N	"" []	EFO:0000039	"CS57622 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158646&type=germplasm" []	194309	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57622
EFO:0000040	\N	\N	"CS57624 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158648&type=germplasm" []	EFO:0000040	"CS57624 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158648&type=germplasm" []	64005	\N	\N	EFO	0	EFO	CS57624	CS57624
NCBITaxon:3702	\N	\N	"" []	EFO:0000040	"CS57624 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158648&type=germplasm" []	194310	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57624
EFO:0000041	\N	\N	"CS57625 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158649&type=germplasm" []	EFO:0000041	"CS57625 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158649&type=germplasm" []	64006	\N	\N	EFO	0	EFO	CS57625	CS57625
NCBITaxon:3702	\N	\N	"" []	EFO:0000041	"CS57625 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158649&type=germplasm" []	194311	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57625
EFO:0000042	\N	\N	"CS57626 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158650&type=germplasm" []	EFO:0000042	"CS57626 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158650&type=germplasm" []	64007	\N	\N	EFO	0	EFO	CS57626	CS57626
NCBITaxon:3702	\N	\N	"" []	EFO:0000042	"CS57626 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158650&type=germplasm" []	194312	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57626
EFO:0000043	\N	\N	"CS57627 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158651&type=germplasm" []	EFO:0000043	"CS57627 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158651&type=germplasm" []	64008	\N	\N	EFO	0	EFO	CS57627	CS57627
NCBITaxon:3702	\N	\N	"" []	EFO:0000043	"CS57627 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158651&type=germplasm" []	194313	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57627
EFO:0000044	\N	\N	"CS57628 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158652&type=germplasm" []	EFO:0000044	"CS57628 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158652&type=germplasm" []	64009	\N	\N	EFO	0	EFO	CS57628	CS57628
NCBITaxon:3702	\N	\N	"" []	EFO:0000044	"CS57628 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158652&type=germplasm" []	194314	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57628
EFO:0000045	\N	\N	"CS57629 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158653&type=germplasm" []	EFO:0000045	"CS57629 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158653&type=germplasm" []	64010	\N	\N	EFO	0	EFO	CS57629	CS57629
NCBITaxon:3702	\N	\N	"" []	EFO:0000045	"CS57629 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158653&type=germplasm" []	194315	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57629
EFO:0000046	\N	\N	"CS57630 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158654&type=germplasm" []	EFO:0000046	"CS57630 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158654&type=germplasm" []	64011	\N	\N	EFO	0	EFO	CS57630	CS57630
NCBITaxon:3702	\N	\N	"" []	EFO:0000046	"CS57630 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158654&type=germplasm" []	194316	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57630
EFO:0000047	\N	\N	"CS57631 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158655&type=germplasm" []	EFO:0000047	"CS57631 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158655&type=germplasm" []	64012	\N	\N	EFO	0	EFO	CS57631	CS57631
NCBITaxon:3702	\N	\N	"" []	EFO:0000047	"CS57631 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158655&type=germplasm" []	194317	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57631
EFO:0000048	\N	\N	"CS57637 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158661&type=germplasm" []	EFO:0000048	"CS57637 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158661&type=germplasm" []	64013	\N	\N	EFO	0	EFO	CS57637	CS57637
NCBITaxon:3702	\N	\N	"" []	EFO:0000048	"CS57637 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158661&type=germplasm" []	194318	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57637
EFO:0000049	\N	\N	"CS57641 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158665&type=germplasm" []	EFO:0000049	"CS57641 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158665&type=germplasm" []	64014	\N	\N	EFO	0	EFO	CS57641	CS57641
NCBITaxon:3702	\N	\N	"" []	EFO:0000049	"CS57641 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158665&type=germplasm" []	194319	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57641
EFO:0000050	\N	\N	"CS57644 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158668&type=germplasm" []	EFO:0000050	"CS57644 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158668&type=germplasm" []	64015	\N	\N	EFO	0	EFO	CS57644	CS57644
NCBITaxon:3702	\N	\N	"" []	EFO:0000050	"CS57644 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158668&type=germplasm" []	194320	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57644
EFO:0000051	\N	\N	"CS57646 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158670&type=germplasm" []	EFO:0000051	"CS57646 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158670&type=germplasm" []	64016	\N	\N	EFO	0	EFO	CS57646	CS57646
NCBITaxon:3702	\N	\N	"" []	EFO:0000051	"CS57646 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158670&type=germplasm" []	194321	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57646
EFO:0000052	\N	\N	"CS57648 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158672&type=germplasm" []	EFO:0000052	"CS57648 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158672&type=germplasm" []	64017	\N	\N	EFO	0	EFO	CS57648	CS57648
NCBITaxon:3702	\N	\N	"" []	EFO:0000052	"CS57648 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158672&type=germplasm" []	194322	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57648
EFO:0000053	\N	\N	"CS57655 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158679&type=germplasm" []	EFO:0000053	"CS57655 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158679&type=germplasm" []	64018	\N	\N	EFO	0	EFO	CS57655	CS57655
NCBITaxon:3702	\N	\N	"" []	EFO:0000053	"CS57655 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158679&type=germplasm" []	194323	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57655
EFO:0000054	\N	\N	"CS57658 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158682&type=germplasm" []	EFO:0000054	"CS57658 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158682&type=germplasm" []	64019	\N	\N	EFO	0	EFO	CS57658	CS57658
NCBITaxon:3702	\N	\N	"" []	EFO:0000054	"CS57658 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158682&type=germplasm" []	194324	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57658
EFO:0000055	\N	\N	"CS57660 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158684&type=germplasm" []	EFO:0000055	"CS57660 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158684&type=germplasm" []	64020	\N	\N	EFO	0	EFO	CS57660	CS57660
NCBITaxon:3702	\N	\N	"" []	EFO:0000055	"CS57660 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158684&type=germplasm" []	194325	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57660
EFO:0000056	\N	\N	"CS57663 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158687&type=germplasm" []	EFO:0000056	"CS57663 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158687&type=germplasm" []	64021	\N	\N	EFO	0	EFO	CS57663	CS57663
NCBITaxon:3702	\N	\N	"" []	EFO:0000056	"CS57663 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158687&type=germplasm" []	194326	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57663
EFO:0000057	\N	\N	"CS57664 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158688&type=germplasm" []	EFO:0000057	"CS57664 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158688&type=germplasm" []	64022	\N	\N	EFO	0	EFO	CS57664	CS57664
NCBITaxon:3702	\N	\N	"" []	EFO:0000057	"CS57664 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158688&type=germplasm" []	194327	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57664
EFO:0000058	\N	\N	"CS57664 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158690&type=germplasm" []	EFO:0000058	"CS57664 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158690&type=germplasm" []	64023	\N	\N	EFO	0	EFO	CS57666	CS57666
NCBITaxon:3702	\N	\N	"" []	EFO:0000058	"CS57664 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158690&type=germplasm" []	194328	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57666
EFO:0000059	\N	\N	"CS57671 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm" []	EFO:0000059	"CS57671 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm" []	64024	\N	\N	EFO	0	EFO	CS57671	CS57671
NCBITaxon:3702	\N	\N	"" []	EFO:0000059	"CS57671 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm" []	194329	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57671
EFO:0000060	\N	\N	"CS57677 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm" []	EFO:0000060	"CS57677 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm" []	64025	\N	\N	EFO	0	EFO	CS57677	CS57677
NCBITaxon:3702	\N	\N	"" []	EFO:0000060	"CS57677 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm" []	194330	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57677
EFO:0000061	\N	\N	"CS57691 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158715&type=germplasm" []	EFO:0000061	"CS57691 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158715&type=germplasm" []	64026	\N	\N	EFO	0	EFO	CS57691	CS57691
NCBITaxon:3702	\N	\N	"" []	EFO:0000061	"CS57691 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158715&type=germplasm" []	194331	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57691
EFO:0000062	\N	\N	"CS57692 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158716&type=germplasm" []	EFO:0000062	"CS57692 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158716&type=germplasm" []	64027	\N	\N	EFO	0	EFO	CS57692	CS57692
NCBITaxon:3702	\N	\N	"" []	EFO:0000062	"CS57692 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158716&type=germplasm" []	194332	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57692
EFO:0000063	\N	\N	"CS57699 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158723&type=germplasm" []	EFO:0000063	"CS57699 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158723&type=germplasm" []	64028	\N	\N	EFO	0	EFO	CS57699	CS57699
NCBITaxon:3702	\N	\N	"" []	EFO:0000063	"CS57699 is an Arabidopsis thaliana strain as described in TAIR  http://www.arabidopsis.org/servlets/TairObject?id=1005158723&type=germplasm" []	194333	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57699
EFO:0000064	\N	\N	"CS57701 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158725&type=germplasm" []	EFO:0000064	"CS57701 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158725&type=germplasm" []	64029	\N	\N	EFO	0	EFO	CS57701	CS57701
NCBITaxon:3702	\N	\N	"" []	EFO:0000064	"CS57701 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158725&type=germplasm" []	194334	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57701
EFO:0000065	\N	\N	"CS57704 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158728&type=germplasm" []	EFO:0000065	"CS57704 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158728&type=germplasm" []	64030	\N	\N	EFO	0	EFO	CS57704	CS57704
NCBITaxon:3702	\N	\N	"" []	EFO:0000065	"CS57704 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158728&type=germplasm" []	194335	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57704
EFO:0000066	\N	\N	"CS57705 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158729&type=germplasm" []	EFO:0000066	"CS57705 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158729&type=germplasm" []	64031	\N	\N	EFO	0	EFO	CS57705	CS57705
NCBITaxon:3702	\N	\N	"" []	EFO:0000066	"CS57705 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158729&type=germplasm" []	194336	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57705
EFO:0000067	\N	\N	"CS57706 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158730&type=germplasm" []	EFO:0000067	"CS57706 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158730&type=germplasm" []	64032	\N	\N	EFO	0	EFO	CS57706	CS57706
NCBITaxon:3702	\N	\N	"" []	EFO:0000067	"CS57706 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158730&type=germplasm" []	194337	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57706
EFO:0000068	\N	\N	"CS57709 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158733&type=germplasm" []	EFO:0000068	"CS57709 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158733&type=germplasm" []	64033	\N	\N	EFO	0	EFO	CS57709	CS57709
NCBITaxon:3702	\N	\N	"" []	EFO:0000068	"CS57709 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158733&type=germplasm" []	194338	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57709
EFO:0000069	\N	\N	"CS57710 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158734&type=germplasm" []	EFO:0000069	"CS57710 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158734&type=germplasm" []	64034	\N	\N	EFO	0	EFO	CS57710	CS57710
NCBITaxon:3702	\N	\N	"" []	EFO:0000069	"CS57710 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158734&type=germplasm" []	194339	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57710
EFO:0000070	\N	\N	"CS57714 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158738&type=germplasm" []	EFO:0000070	"CS57714 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158738&type=germplasm" []	64035	\N	\N	EFO	0	EFO	CS57714	CS57714
NCBITaxon:3702	\N	\N	"" []	EFO:0000070	"CS57714 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158738&type=germplasm" []	194340	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57714
EFO:0000071	\N	\N	"CS57715 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158739&type=germplasm" []	EFO:0000071	"CS57715 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158739&type=germplasm" []	64036	\N	\N	EFO	0	EFO	CS57715	CS57715
NCBITaxon:3702	\N	\N	"" []	EFO:0000071	"CS57715 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158739&type=germplasm" []	194341	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57715
EFO:0000072	\N	\N	"CS57716 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158740&type=germplasm" []	EFO:0000072	"CS57716 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158740&type=germplasm" []	64037	\N	\N	EFO	0	EFO	CS57716	CS57716
NCBITaxon:3702	\N	\N	"" []	EFO:0000072	"CS57716 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158740&type=germplasm" []	194342	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57716
EFO:0000073	\N	\N	"CS57717 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158741&type=germplasm" []	EFO:0000073	"CS57717 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158741&type=germplasm" []	64038	\N	\N	EFO	0	EFO	CS57717	CS57717
NCBITaxon:3702	\N	\N	"" []	EFO:0000073	"CS57717 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158741&type=germplasm" []	194343	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57717
EFO:0000074	\N	\N	"CS57719 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158743&type=germplasm" []	EFO:0000074	"CS57719 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158743&type=germplasm" []	64039	\N	\N	EFO	0	EFO	CS57719	CS57719
NCBITaxon:3702	\N	\N	"" []	EFO:0000074	"CS57719 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158743&type=germplasm" []	194344	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57719
EFO:0000075	\N	\N	"CS57722 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158746&type=germplasm" []	EFO:0000075	"CS57722 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158746&type=germplasm" []	64040	\N	\N	EFO	0	EFO	CS57722	CS57722
NCBITaxon:3702	\N	\N	"" []	EFO:0000075	"CS57722 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158746&type=germplasm" []	194345	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57722
EFO:0000076	\N	\N	"CS57727 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158751&type=germplasm" []	EFO:0000076	"CS57727 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158751&type=germplasm" []	64041	\N	\N	EFO	0	EFO	CS57727	CS57727
NCBITaxon:3702	\N	\N	"" []	EFO:0000076	"CS57727 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158751&type=germplasm" []	194346	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57727
EFO:0000077	\N	\N	"CS57731 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158755&type=germplasm" []	EFO:0000077	"CS57731 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158755&type=germplasm" []	64042	\N	\N	EFO	0	EFO	CS57731	CS57731
NCBITaxon:3702	\N	\N	"" []	EFO:0000077	"CS57731 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158755&type=germplasm" []	194347	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57731
EFO:0000078	\N	\N	"CS57732 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158756&type=germplasm" []	EFO:0000078	"CS57732 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158756&type=germplasm" []	64043	\N	\N	EFO	0	EFO	CS57732	CS57732
NCBITaxon:3702	\N	\N	"" []	EFO:0000078	"CS57732 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158756&type=germplasm" []	194348	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57732
EFO:0000079	\N	\N	"CS57733 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158757&type=germplasm" []	EFO:0000079	"CS57733 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158757&type=germplasm" []	64044	\N	\N	EFO	0	EFO	CS57733	CS57733
NCBITaxon:3702	\N	\N	"" []	EFO:0000079	"CS57733 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158757&type=germplasm" []	194349	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57733
EFO:0000080	\N	\N	"CS57735 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158759&type=germplasm" []	EFO:0000080	"CS57735 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158759&type=germplasm" []	64045	\N	\N	EFO	0	EFO	CS57735	CS57735
NCBITaxon:3702	\N	\N	"" []	EFO:0000080	"CS57735 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158759&type=germplasm" []	194350	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57735
EFO:0000081	\N	\N	"CS57737 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158761&type=germplasm" []	EFO:0000081	"CS57737 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158761&type=germplasm" []	64046	\N	\N	EFO	0	EFO	CS57737	CS57737
NCBITaxon:3702	\N	\N	"" []	EFO:0000081	"CS57737 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158761&type=germplasm" []	194351	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57737
EFO:0000082	\N	\N	"CS57740 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158764&type=germplasm" []	EFO:0000082	"CS57740 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158764&type=germplasm" []	64047	\N	\N	EFO	0	EFO	CS57740	CS57740
NCBITaxon:3702	\N	\N	"" []	EFO:0000082	"CS57740 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158764&type=germplasm" []	194352	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57740
EFO:0000083	\N	\N	"CS57742 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158766&type=germplasm" []	EFO:0000083	"CS57742 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158766&type=germplasm" []	64048	\N	\N	EFO	0	EFO	CS57742	CS57742
NCBITaxon:3702	\N	\N	"" []	EFO:0000083	"CS57742 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158766&type=germplasm" []	194353	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57742
EFO:0000084	\N	\N	"CS57743 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158767&type=germplasm" []	EFO:0000084	"CS57743 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158767&type=germplasm" []	64049	\N	\N	EFO	0	EFO	CS57743	CS57743
NCBITaxon:3702	\N	\N	"" []	EFO:0000084	"CS57743 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158767&type=germplasm" []	194354	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57743
EFO:0000085	\N	\N	"CS57750 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158774&type=germplasm" []	EFO:0000085	"CS57750 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158774&type=germplasm" []	64050	\N	\N	EFO	0	EFO	CS57750	CS57750
NCBITaxon:3702	\N	\N	"" []	EFO:0000085	"CS57750 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158774&type=germplasm" []	194355	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57750
EFO:0000086	\N	\N	"CS57751 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158775&type=germplasm" []	EFO:0000086	"CS57751 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158775&type=germplasm" []	64051	\N	\N	EFO	0	EFO	CS57751	CS57751
NCBITaxon:3702	\N	\N	"" []	EFO:0000086	"CS57751 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158775&type=germplasm" []	194356	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57751
EFO:0000087	\N	\N	"CS57752 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158776&type=germplasm" []	EFO:0000087	"CS57752 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158776&type=germplasm" []	64052	\N	\N	EFO	0	EFO	CS57752	CS57752
NCBITaxon:3702	\N	\N	"" []	EFO:0000087	"CS57752 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158776&type=germplasm" []	194357	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57752
EFO:0000088	\N	\N	"CS57753 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158777&type=germplasm" []	EFO:0000088	"CS57753 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158777&type=germplasm" []	64053	\N	\N	EFO	0	EFO	CS57753	CS57753
NCBITaxon:3702	\N	\N	"" []	EFO:0000088	"CS57753 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158777&type=germplasm" []	194358	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57753
EFO:0000089	\N	\N	"CS57758 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158782&type=germplasm" []	EFO:0000089	"CS57758 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158782&type=germplasm" []	64054	\N	\N	EFO	0	EFO	CS57758	CS57758
NCBITaxon:3702	\N	\N	"" []	EFO:0000089	"CS57758 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158782&type=germplasm" []	194359	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57758
EFO:0000090	\N	\N	"CS57769 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158793&type=germplasm" []	EFO:0000090	"CS57769 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158793&type=germplasm" []	64055	\N	\N	EFO	0	EFO	CS57769	CS57769
NCBITaxon:3702	\N	\N	"" []	EFO:0000090	"CS57769 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158793&type=germplasm" []	194360	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57769
EFO:0000094	\N	\N	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	EFO:0000094	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	64056	\N	\N	EFO	0	EFO	B-cell acute lymphoblastic leukemia	B-cell acute lymphoblastic leukemia
EFO:0000220	EFO:0000094	\N	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	EFO:0000094	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	204552	\N	\N	EFO	1	EFO	acute lymphoblastic leukemia	B-cell acute lymphoblastic leukemia
EFO:0002425	EFO:0000220	\N	"a neoplasm arising from immature B and T cells" []	EFO:0000094	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	557583	\N	\N	EFO	2	EFO	neoplasm of immature B and T cells	B-cell acute lymphoblastic leukemia
EFO:0001642	EFO:0002425	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000094	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	1139870	\N	\N	EFO	3	EFO	lymphoid neoplasm	B-cell acute lymphoblastic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000094	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	2022924	\N	\N	EFO	4	EFO	cancer	B-cell acute lymphoblastic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000094	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	2022925	\N	\N	EFO	4	EFO	hematological system disease	B-cell acute lymphoblastic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000094	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	3176949	\N	\N	EFO	5	EFO	neoplasm	B-cell acute lymphoblastic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000094	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	3176950	\N	\N	EFO	5	EFO	disease	B-cell acute lymphoblastic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000094	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	4387479	\N	\N	EFO	6	EFO	disease	B-cell acute lymphoblastic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000094	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	5408475	\N	\N	EFO	7	EFO	disposition	B-cell acute lymphoblastic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000094	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	5996528	\N	\N	EFO	8	EFO	material property	B-cell acute lymphoblastic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000094	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	6550347	\N	\N	EFO	9	EFO	experimental factor	B-cell acute lymphoblastic leukemia
EFO:0000095	\N	\N	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	64057	\N	\N	EFO	0	EFO	chronic lymphocytic leukemia	chronic lymphocytic leukemia
EFO:0000096	EFO:0000095	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	204553	\N	\N	EFO	1	EFO	neoplasm of mature B-cells	chronic lymphocytic leukemia
EFO:0000565	EFO:0000095	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	204554	\N	\N	EFO	1	EFO	leukemia	chronic lymphocytic leukemia
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	557584	\N	\N	EFO	2	EFO	lymphoid neoplasm	chronic lymphocytic leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	557585	\N	\N	EFO	2	EFO	lymphoid neoplasm	chronic lymphocytic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	1139871	\N	\N	EFO	3	EFO	cancer	chronic lymphocytic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	1139872	\N	\N	EFO	3	EFO	hematological system disease	chronic lymphocytic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	2022926	\N	\N	EFO	4	EFO	neoplasm	chronic lymphocytic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	2022927	\N	\N	EFO	4	EFO	disease	chronic lymphocytic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	3176951	\N	\N	EFO	5	EFO	disease	chronic lymphocytic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	4387481	\N	\N	EFO	6	EFO	disposition	chronic lymphocytic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	5180861	\N	\N	EFO	7	EFO	material property	chronic lymphocytic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000095	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	5996529	\N	\N	EFO	8	EFO	experimental factor	chronic lymphocytic leukemia
EFO:0000096	\N	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:0000096	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	64058	\N	\N	EFO	0	EFO	neoplasm of mature B-cells	neoplasm of mature B-cells
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000096	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	204555	\N	\N	EFO	1	EFO	lymphoid neoplasm	neoplasm of mature B-cells
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000096	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	557586	\N	\N	EFO	2	EFO	cancer	neoplasm of mature B-cells
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000096	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	557587	\N	\N	EFO	2	EFO	hematological system disease	neoplasm of mature B-cells
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000096	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	1139873	\N	\N	EFO	3	EFO	neoplasm	neoplasm of mature B-cells
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000096	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	1139874	\N	\N	EFO	3	EFO	disease	neoplasm of mature B-cells
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000096	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	2022928	\N	\N	EFO	4	EFO	disease	neoplasm of mature B-cells
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000096	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	3176953	\N	\N	EFO	5	EFO	disposition	neoplasm of mature B-cells
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000096	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	4132508	\N	\N	EFO	6	EFO	material property	neoplasm of mature B-cells
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000096	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	5180862	\N	\N	EFO	7	EFO	experimental factor	neoplasm of mature B-cells
EFO:0000098	\N	\N	"" []	EFO:0000098	"" []	64059	\N	\N	EFO	0	EFO	BY4741	BY4741
NCBITaxon:4932	\N	\N	"" []	EFO:0000098	"" []	194361	\N	\N	EFO	0	EFO	Saccharomyces cerevisiae	BY4741
EFO:0000100	\N	\N	"" []	EFO:0000100	"" []	64060	\N	\N	EFO	0	EFO	BY5251	BY5251
NCBITaxon:4932	\N	\N	"" []	EFO:0000100	"" []	194362	\N	\N	EFO	0	EFO	Saccharomyces cerevisiae	BY5251
EFO:0000111	\N	\N	"CS57770 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158794&type=germplasm" []	EFO:0000111	"CS57770 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158794&type=germplasm" []	64061	\N	\N	EFO	0	EFO	CS57770	CS57770
NCBITaxon:3702	\N	\N	"" []	EFO:0000111	"CS57770 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158794&type=germplasm" []	194363	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57770
EFO:0000112	\N	\N	"CS57771 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158795&type=germplasm" []	EFO:0000112	"CS57771 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158795&type=germplasm" []	64062	\N	\N	EFO	0	EFO	CS57771	CS57771
NCBITaxon:3702	\N	\N	"" []	EFO:0000112	"CS57771 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158795&type=germplasm" []	194364	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57771
EFO:0000113	\N	\N	"CS57776 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158800&type=germplasm" []	EFO:0000113	"CS57776 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158800&type=germplasm" []	64063	\N	\N	EFO	0	EFO	CS57776	CS57776
NCBITaxon:3702	\N	\N	"" []	EFO:0000113	"CS57776 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158800&type=germplasm" []	194365	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57776
EFO:0000114	\N	\N	"CS57777 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158801&type=germplasm" []	EFO:0000114	"CS57777 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158801&type=germplasm" []	64064	\N	\N	EFO	0	EFO	CS57777	CS57777
NCBITaxon:3702	\N	\N	"" []	EFO:0000114	"CS57777 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158801&type=germplasm" []	194366	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57777
EFO:0000115	\N	\N	"CS57778 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158802&type=germplasm" []	EFO:0000115	"CS57778 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158802&type=germplasm" []	64065	\N	\N	EFO	0	EFO	CS57778	CS57778
NCBITaxon:3702	\N	\N	"" []	EFO:0000115	"CS57778 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158802&type=germplasm" []	194367	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57778
EFO:0000116	\N	\N	"CS57779 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158803&type=germplasm" []	EFO:0000116	"CS57779 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158803&type=germplasm" []	64066	\N	\N	EFO	0	EFO	CS57779	CS57779
NCBITaxon:3702	\N	\N	"" []	EFO:0000116	"CS57779 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158803&type=germplasm" []	194368	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57779
EFO:0000117	\N	\N	"CS57783 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158807&type=germplasm" []	EFO:0000117	"CS57783 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158807&type=germplasm" []	64067	\N	\N	EFO	0	EFO	CS57783	CS57783
NCBITaxon:3702	\N	\N	"" []	EFO:0000117	"CS57783 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158807&type=germplasm" []	194369	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57783
EFO:0000118	\N	\N	"CS57785 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158809&type=germplasm" []	EFO:0000118	"CS57785 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158809&type=germplasm" []	64068	\N	\N	EFO	0	EFO	CS57785	CS57785
NCBITaxon:3702	\N	\N	"" []	EFO:0000118	"CS57785 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158809&type=germplasm" []	194370	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57785
EFO:0000119	\N	\N	"CS57789 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158813&type=germplasm" []	EFO:0000119	"CS57789 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158813&type=germplasm" []	64069	\N	\N	EFO	0	EFO	CS57789	CS57789
NCBITaxon:3702	\N	\N	"" []	EFO:0000119	"CS57789 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158813&type=germplasm" []	194371	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57789
EFO:0000120	\N	\N	"CS57790 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158814&type=germplasm" []	EFO:0000120	"CS57790 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158814&type=germplasm" []	64070	\N	\N	EFO	0	EFO	CS57790	CS57790
NCBITaxon:3702	\N	\N	"" []	EFO:0000120	"CS57790 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158814&type=germplasm" []	194372	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57790
EFO:0000121	\N	\N	"CS57801 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158825&type=germplasm" []	EFO:0000121	"CS57801 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158825&type=germplasm" []	64071	\N	\N	EFO	0	EFO	CS57801	CS57801
NCBITaxon:3702	\N	\N	"" []	EFO:0000121	"CS57801 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158825&type=germplasm" []	194373	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57801
EFO:0000122	\N	\N	"CS57803 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158827&type=germplasm" []	EFO:0000122	"CS57803 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158827&type=germplasm" []	64072	\N	\N	EFO	0	EFO	CS57803	CS57803
NCBITaxon:3702	\N	\N	"" []	EFO:0000122	"CS57803 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158827&type=germplasm" []	194374	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57803
EFO:0000123	\N	\N	"CS57807 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158831&type=germplasm" []	EFO:0000123	"CS57807 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158831&type=germplasm" []	64073	\N	\N	EFO	0	EFO	CS57807	CS57807
NCBITaxon:3702	\N	\N	"" []	EFO:0000123	"CS57807 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158831&type=germplasm" []	194375	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57807
EFO:0000124	\N	\N	"CS57810 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158834&type=germplasm" []	EFO:0000124	"CS57810 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158834&type=germplasm" []	64074	\N	\N	EFO	0	EFO	CS57810	CS57810
NCBITaxon:3702	\N	\N	"" []	EFO:0000124	"CS57810 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158834&type=germplasm" []	194376	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57810
EFO:0000125	\N	\N	"CS57811 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158835&type=germplasm" []	EFO:0000125	"CS57811 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158835&type=germplasm" []	64075	\N	\N	EFO	0	EFO	CS57811	CS57811
NCBITaxon:3702	\N	\N	"" []	EFO:0000125	"CS57811 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158835&type=germplasm" []	194377	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57811
EFO:0000126	\N	\N	"CS57812 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158836&type=germplasm" []	EFO:0000126	"CS57812 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158836&type=germplasm" []	64076	\N	\N	EFO	0	EFO	CS57812	CS57812
NCBITaxon:3702	\N	\N	"" []	EFO:0000126	"CS57812 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158836&type=germplasm" []	194378	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57812
EFO:0000127	\N	\N	"CS57813 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158837&type=germplasm" []	EFO:0000127	"CS57813 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158837&type=germplasm" []	64077	\N	\N	EFO	0	EFO	CS57813	CS57813
NCBITaxon:3702	\N	\N	"" []	EFO:0000127	"CS57813 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158837&type=germplasm" []	194379	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57813
EFO:0000128	\N	\N	"CS57816 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158840&type=germplasm" []	EFO:0000128	"CS57816 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158840&type=germplasm" []	64078	\N	\N	EFO	0	EFO	CS57816	CS57816
NCBITaxon:3702	\N	\N	"" []	EFO:0000128	"CS57816 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158840&type=germplasm" []	194380	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57816
EFO:0000129	\N	\N	"CS57820 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158844&type=germplasm" []	EFO:0000129	"CS57820 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158844&type=germplasm" []	64079	\N	\N	EFO	0	EFO	CS57820	CS57820
NCBITaxon:3702	\N	\N	"" []	EFO:0000129	"CS57820 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158844&type=germplasm" []	194381	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57820
EFO:0000130	\N	\N	"CS57822 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158846&type=germplasm" []	EFO:0000130	"CS57822 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158846&type=germplasm" []	64080	\N	\N	EFO	0	EFO	CS57822	CS57822
NCBITaxon:3702	\N	\N	"" []	EFO:0000130	"CS57822 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158846&type=germplasm" []	194382	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57822
EFO:0000131	\N	\N	"CS57823 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158847&type=germplasm" []	EFO:0000131	"CS57823 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158847&type=germplasm" []	64081	\N	\N	EFO	0	EFO	CS57823	CS57823
NCBITaxon:3702	\N	\N	"" []	EFO:0000131	"CS57823 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158847&type=germplasm" []	194383	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57823
EFO:0000132	\N	\N	"CS57824  is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158848&type=germplasm" []	EFO:0000132	"CS57824  is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158848&type=germplasm" []	64082	\N	\N	EFO	0	EFO	CS57824	CS57824
NCBITaxon:3702	\N	\N	"" []	EFO:0000132	"CS57824  is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158848&type=germplasm" []	194384	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57824
EFO:0000133	\N	\N	"CS57825 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158849&type=germplasm" []	EFO:0000133	"CS57825 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158849&type=germplasm" []	64083	\N	\N	EFO	0	EFO	CS57825	CS57825
NCBITaxon:3702	\N	\N	"" []	EFO:0000133	"CS57825 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158849&type=germplasm" []	194385	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57825
EFO:0000134	\N	\N	"CS57826 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158850&type=germplasm" []	EFO:0000134	"CS57826 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158850&type=germplasm" []	64084	\N	\N	EFO	0	EFO	CS57826	CS57826
NCBITaxon:3702	\N	\N	"" []	EFO:0000134	"CS57826 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158850&type=germplasm" []	194386	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57826
EFO:0000135	\N	\N	"CS57827 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158851&type=germplasm" []	EFO:0000135	"CS57827 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158851&type=germplasm" []	64085	\N	\N	EFO	0	EFO	CS57827	CS57827
NCBITaxon:3702	\N	\N	"" []	EFO:0000135	"CS57827 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158851&type=germplasm" []	194387	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57827
EFO:0000136	\N	\N	"CS57828 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158852&type=germplasm" []	EFO:0000136	"CS57828 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158852&type=germplasm" []	64086	\N	\N	EFO	0	EFO	CS57828	CS57828
NCBITaxon:3702	\N	\N	"" []	EFO:0000136	"CS57828 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158852&type=germplasm" []	194388	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57828
EFO:0000137	\N	\N	"CS57834 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158858&type=germplasm" []	EFO:0000137	"CS57834 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158858&type=germplasm" []	64087	\N	\N	EFO	0	EFO	CS57834	CS57834
NCBITaxon:3702	\N	\N	"" []	EFO:0000137	"CS57834 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158858&type=germplasm" []	194389	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57834
EFO:0000138	\N	\N	"CS57835 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158859&type=germplasm" []	EFO:0000138	"CS57835 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158859&type=germplasm" []	64088	\N	\N	EFO	0	EFO	CS57835	CS57835
NCBITaxon:3702	\N	\N	"" []	EFO:0000138	"CS57835 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158859&type=germplasm" []	194390	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57835
EFO:0000139	\N	\N	"CS57836 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158860&type=germplasm" []	EFO:0000139	"CS57836 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158860&type=germplasm" []	64089	\N	\N	EFO	0	EFO	CS57836	CS57836
NCBITaxon:3702	\N	\N	"" []	EFO:0000139	"CS57836 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158860&type=germplasm" []	194391	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57836
EFO:0000140	\N	\N	"CS57840 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158864&type=germplasm" []	EFO:0000140	"CS57840 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158864&type=germplasm" []	64090	\N	\N	EFO	0	EFO	CS57840	CS57840
NCBITaxon:3702	\N	\N	"" []	EFO:0000140	"CS57840 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158864&type=germplasm" []	194392	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57840
EFO:0000141	\N	\N	"CS57842 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158866&type=germplasm" []	EFO:0000141	"CS57842 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158866&type=germplasm" []	64091	\N	\N	EFO	0	EFO	CS57842	CS57842
NCBITaxon:3702	\N	\N	"" []	EFO:0000141	"CS57842 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158866&type=germplasm" []	194393	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57842
EFO:0000142	\N	\N	"CS57843 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158867&type=germplasm" []	EFO:0000142	"CS57843 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158867&type=germplasm" []	64092	\N	\N	EFO	0	EFO	CS57843	CS57843
NCBITaxon:3702	\N	\N	"" []	EFO:0000142	"CS57843 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158867&type=germplasm" []	194394	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57843
EFO:0000143	\N	\N	"CS57847 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158871&type=germplasm" []	EFO:0000143	"CS57847 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158871&type=germplasm" []	64093	\N	\N	EFO	0	EFO	CS57847	CS57847
NCBITaxon:3702	\N	\N	"" []	EFO:0000143	"CS57847 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158871&type=germplasm" []	194395	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57847
EFO:0000144	\N	\N	"CS57848 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158872&type=germplasm" []	EFO:0000144	"CS57848 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158872&type=germplasm" []	64094	\N	\N	EFO	0	EFO	CS57848	CS57848
NCBITaxon:3702	\N	\N	"" []	EFO:0000144	"CS57848 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158872&type=germplasm" []	194396	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57848
EFO:0000145	\N	\N	"CS57850 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158874&type=germplasm" []	EFO:0000145	"CS57850 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158874&type=germplasm" []	64095	\N	\N	EFO	0	EFO	CS57850	CS57850
NCBITaxon:3702	\N	\N	"" []	EFO:0000145	"CS57850 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158874&type=germplasm" []	194397	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57850
EFO:0000146	\N	\N	"CS57854 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158878&type=germplasm" []	EFO:0000146	"CS57854 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158878&type=germplasm" []	64096	\N	\N	EFO	0	EFO	CS57854	CS57854
NCBITaxon:3702	\N	\N	"" []	EFO:0000146	"CS57854 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158878&type=germplasm" []	194398	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57854
EFO:0000147	\N	\N	"CS57858 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158882&type=germplasm" []	EFO:0000147	"CS57858 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158882&type=germplasm" []	64097	\N	\N	EFO	0	EFO	CS57858	CS57858
NCBITaxon:3702	\N	\N	"" []	EFO:0000147	"CS57858 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158882&type=germplasm" []	194399	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57858
EFO:0000148	\N	\N	"CS57859 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158883&type=germplasm" []	EFO:0000148	"CS57859 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158883&type=germplasm" []	64098	\N	\N	EFO	0	EFO	CS57859	CS57859
NCBITaxon:3702	\N	\N	"" []	EFO:0000148	"CS57859 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158883&type=germplasm" []	194400	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57859
EFO:0000149	\N	\N	"CS57867 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158891&type=germplasm" []	EFO:0000149	"CS57867 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158891&type=germplasm" []	64099	\N	\N	EFO	0	EFO	CS57867	CS57867
NCBITaxon:3702	\N	\N	"" []	EFO:0000149	"CS57867 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158891&type=germplasm" []	194401	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57867
EFO:0000150	\N	\N	"CS57870 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158894&type=germplasm" []	EFO:0000150	"CS57870 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158894&type=germplasm" []	64100	\N	\N	EFO	0	EFO	CS57870	CS57870
NCBITaxon:3702	\N	\N	"" []	EFO:0000150	"CS57870 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158894&type=germplasm" []	194402	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57870
EFO:0000151	\N	\N	"CS57871 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158895&type=germplasm" []	EFO:0000151	"CS57871 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158895&type=germplasm" []	64101	\N	\N	EFO	0	EFO	CS57871	CS57871
NCBITaxon:3702	\N	\N	"" []	EFO:0000151	"CS57871 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158895&type=germplasm" []	194403	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57871
EFO:0000152	\N	\N	"CS57873 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158897&type=germplasm" []	EFO:0000152	"CS57873 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158897&type=germplasm" []	64102	\N	\N	EFO	0	EFO	CS57873	CS57873
NCBITaxon:3702	\N	\N	"" []	EFO:0000152	"CS57873 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158897&type=germplasm" []	194404	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57873
EFO:0000153	\N	\N	"CS57874 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158898&type=germplasm" []	EFO:0000153	"CS57874 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158898&type=germplasm" []	64103	\N	\N	EFO	0	EFO	CS57874	CS57874
NCBITaxon:3702	\N	\N	"" []	EFO:0000153	"CS57874 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158898&type=germplasm" []	194405	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57874
EFO:0000154	\N	\N	"CS57875 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158899&type=germplasm" []	EFO:0000154	"CS57875 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158899&type=germplasm" []	64104	\N	\N	EFO	0	EFO	CS57875	CS57875
NCBITaxon:3702	\N	\N	"" []	EFO:0000154	"CS57875 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158899&type=germplasm" []	194406	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57875
EFO:0000155	\N	\N	"CS57876 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158900&type=germplasm" []	EFO:0000155	"CS57876 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158900&type=germplasm" []	64105	\N	\N	EFO	0	EFO	CS57876	CS57876
NCBITaxon:3702	\N	\N	"" []	EFO:0000155	"CS57876 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158900&type=germplasm" []	194407	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57876
EFO:0000156	\N	\N	"CS57883 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158907&type=germplasm" []	EFO:0000156	"CS57883 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158907&type=germplasm" []	64106	\N	\N	EFO	0	EFO	CS57883	CS57883
NCBITaxon:3702	\N	\N	"" []	EFO:0000156	"CS57883 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158907&type=germplasm" []	194408	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57883
EFO:0000157	\N	\N	"CS57884 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158908&type=germplasm" []	EFO:0000157	"CS57884 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158908&type=germplasm" []	64107	\N	\N	EFO	0	EFO	CS57884	CS57884
NCBITaxon:3702	\N	\N	"" []	EFO:0000157	"CS57884 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158908&type=germplasm" []	194409	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57884
EFO:0000158	\N	\N	"CS57886 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158910&type=germplasm" []	EFO:0000158	"CS57886 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158910&type=germplasm" []	64108	\N	\N	EFO	0	EFO	CS57886	CS57886
NCBITaxon:3702	\N	\N	"" []	EFO:0000158	"CS57886 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158910&type=germplasm" []	194410	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57886
EFO:0000159	\N	\N	"CS57890 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158914&type=germplasm" []	EFO:0000159	"CS57890 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158914&type=germplasm" []	64109	\N	\N	EFO	0	EFO	CS57890	CS57890
NCBITaxon:3702	\N	\N	"" []	EFO:0000159	"CS57890 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158914&type=germplasm" []	194411	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57890
EFO:0000160	\N	\N	"CS57896 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158920&type=germplasm" []	EFO:0000160	"CS57896 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158920&type=germplasm" []	64110	\N	\N	EFO	0	EFO	CS57896	CS57896
NCBITaxon:3702	\N	\N	"" []	EFO:0000160	"CS57896 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158920&type=germplasm" []	194412	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57896
EFO:0000161	\N	\N	"CS57901 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158925&type=germplasm" []	EFO:0000161	"CS57901 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158925&type=germplasm" []	64111	\N	\N	EFO	0	EFO	CS57901	CS57901
NCBITaxon:3702	\N	\N	"" []	EFO:0000161	"CS57901 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158925&type=germplasm" []	194413	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57901
EFO:0000162	\N	\N	"CS57904 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158928&type=germplasm" []	EFO:0000162	"CS57904 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158928&type=germplasm" []	64112	\N	\N	EFO	0	EFO	CS57904	CS57904
NCBITaxon:3702	\N	\N	"" []	EFO:0000162	"CS57904 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158928&type=germplasm" []	194414	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57904
EFO:0000163	\N	\N	"CS57905 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158929&type=germplasm" []	EFO:0000163	"CS57905 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158929&type=germplasm" []	64113	\N	\N	EFO	0	EFO	CS57905	CS57905
NCBITaxon:3702	\N	\N	"" []	EFO:0000163	"CS57905 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158929&type=germplasm" []	194415	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57905
EFO:0000164	\N	\N	"CS57908 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158932&type=germplasm" []	EFO:0000164	"CS57908 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158932&type=germplasm" []	64114	\N	\N	EFO	0	EFO	CS57908	CS57908
NCBITaxon:3702	\N	\N	"" []	EFO:0000164	"CS57908 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158932&type=germplasm" []	194416	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57908
EFO:0000165	\N	\N	"CS57923 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005164919&type=germplasm" []	EFO:0000165	"CS57923 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005164919&type=germplasm" []	64115	\N	\N	EFO	0	EFO	CS57923	CS57923
NCBITaxon:3702	\N	\N	"" []	EFO:0000165	"CS57923 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005164919&type=germplasm" []	194417	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57923
EFO:0000166	\N	\N	"CS57924 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005164920&type=germplasm" []	EFO:0000166	"CS57924 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005164920&type=germplasm" []	64116	\N	\N	EFO	0	EFO	CS57924	CS57924
NCBITaxon:3702	\N	\N	"" []	EFO:0000166	"CS57924 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005164920&type=germplasm" []	194418	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS57924
EFO:0000167	\N	\N	"CS8581 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=4473197&type=germplasm" []	EFO:0000167	"CS8581 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=4473197&type=germplasm" []	64117	\N	\N	EFO	0	EFO	CS8581	CS8581
NCBITaxon:3702	\N	\N	"" []	EFO:0000167	"CS8581 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=4473197&type=germplasm" []	194419	\N	\N	EFO	0	EFO	Arabidopsis thaliana	CS8581
EFO:0000174	\N	\N	"A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004" []	EFO:0000174	"A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004" []	64118	\N	\N	EFO	0	EFO	Ewing sarcoma	Ewing sarcoma
EFO:0000691	EFO:0000174	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000174	"A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004" []	204556	\N	\N	EFO	1	EFO	sarcoma	Ewing sarcoma
EFO:0005784	EFO:0000174	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:0000174	"A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004" []	204557	\N	\N	EFO	1	EFO	embryonal neoplasm	Ewing sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000174	"A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004" []	557588	\N	\N	EFO	2	EFO	cancer	Ewing sarcoma
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000174	"A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004" []	557589	\N	\N	EFO	2	EFO	neoplasm	Ewing sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000174	"A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004" []	1139875	\N	\N	EFO	3	EFO	neoplasm	Ewing sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000174	"A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004" []	2022930	\N	\N	EFO	4	EFO	disease	Ewing sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000174	"A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004" []	2999224	\N	\N	EFO	5	EFO	disposition	Ewing sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000174	"A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004" []	4132509	\N	\N	EFO	6	EFO	material property	Ewing sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000174	"A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004" []	5180863	\N	\N	EFO	7	EFO	experimental factor	Ewing sarcoma
EFO:0000175	\N	\N	"FUM1 is a yeast strain as described in http://www.genedb.org/genedb/Search?organism=cerevisiae&name=YPL262W&isid=true" []	EFO:0000175	"FUM1 is a yeast strain as described in http://www.genedb.org/genedb/Search?organism=cerevisiae&name=YPL262W&isid=true" []	64119	\N	\N	EFO	0	EFO	FUM1	FUM1
NCBITaxon:4932	\N	\N	"" []	EFO:0000175	"FUM1 is a yeast strain as described in http://www.genedb.org/genedb/Search?organism=cerevisiae&name=YPL262W&isid=true" []	194420	\N	\N	EFO	0	EFO	Saccharomyces cerevisiae	FUM1
EFO:0000176	\N	\N	"Fisher344 is a rat strain as described in http://www.ratmap.org/ShowStrainDetails.html?strain=72" []	EFO:0000176	"Fisher344 is a rat strain as described in http://www.ratmap.org/ShowStrainDetails.html?strain=72" []	64120	\N	\N	EFO	0	EFO	Fischer 344	Fischer 344
NCBITaxon:10116	\N	\N	"" []	EFO:0000176	"Fisher344 is a rat strain as described in http://www.ratmap.org/ShowStrainDetails.html?strain=72" []	194421	\N	\N	EFO	0	EFO	Rattus norvegicus	Fischer 344
EFO:0000178	\N	\N	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	64121	\N	\N	EFO	0	EFO	gastric carcinoma	gastric carcinoma
EFO:0000313	EFO:0000178	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	204558	\N	\N	EFO	1	EFO	carcinoma	gastric carcinoma
EFO:0003897	EFO:0000178	\N	"Tumors or cancer of the STOMACH." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	204559	\N	\N	EFO	1	EFO	stomach neoplasm	gastric carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	557590	\N	\N	EFO	2	EFO	cancer	gastric carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	557591	\N	\N	EFO	2	EFO	epithelial neoplasm	gastric carcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	557592	\N	\N	EFO	2	EFO	digestive system disease	gastric carcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	557593	\N	\N	EFO	2	EFO	neoplasm	gastric carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	1139877	\N	\N	EFO	3	EFO	neoplasm	gastric carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	1139878	\N	\N	EFO	3	EFO	neoplasm	gastric carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	1139879	\N	\N	EFO	3	EFO	disease	gastric carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	2022932	\N	\N	EFO	4	EFO	disease	gastric carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	2999225	\N	\N	EFO	5	EFO	disposition	gastric carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	4132510	\N	\N	EFO	6	EFO	material property	gastric carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000178	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	5180864	\N	\N	EFO	7	EFO	experimental factor	gastric carcinoma
EFO:0000179	\N	\N	"Goto-Kakizaki is a rat strain as described in http://www.taconic.com/wmspage.cfm?parm1=757" []	EFO:0000179	"Goto-Kakizaki is a rat strain as described in http://www.taconic.com/wmspage.cfm?parm1=757" []	64122	\N	\N	EFO	0	EFO	Goto-Kakizaki	Goto-Kakizaki
NCBITaxon:10116	\N	\N	"" []	EFO:0000179	"Goto-Kakizaki is a rat strain as described in http://www.taconic.com/wmspage.cfm?parm1=757" []	194422	\N	\N	EFO	0	EFO	Rattus norvegicus	Goto-Kakizaki
EFO:0000180	\N	\N	"The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." []	EFO:0000180	"The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." []	64123	\N	\N	EFO	0	EFO	HIV-1 infection	HIV-1 infection
EFO:0000764	EFO:0000180	\N	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	EFO:0000180	"The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." []	204560	\N	\N	EFO	1	EFO	HIV infection	HIV-1 infection
EFO:0000763	EFO:0000764	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0000180	"The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." []	557594	\N	\N	EFO	2	EFO	viral disease	HIV-1 infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000180	"The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." []	1139881	\N	\N	EFO	3	EFO	infectious disease	HIV-1 infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000180	"The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." []	2022934	\N	\N	EFO	4	EFO	disease	HIV-1 infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000180	"The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." []	3176957	\N	\N	EFO	5	EFO	disposition	HIV-1 infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000180	"The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." []	4387486	\N	\N	EFO	6	EFO	material property	HIV-1 infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000180	"The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." []	5408478	\N	\N	EFO	7	EFO	experimental factor	HIV-1 infection
EFO:0000181	\N	\N	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	64124	\N	\N	EFO	0	EFO	head and neck squamous cell carcinoma	head and neck squamous cell carcinoma
EFO:0000707	EFO:0000181	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	204561	\N	\N	EFO	1	EFO	squamous cell carcinoma	head and neck squamous cell carcinoma
EFO:0005950	EFO:0000181	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	204562	\N	\N	EFO	1	EFO	head and neck neoplasia	head and neck squamous cell carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	557595	\N	\N	EFO	2	EFO	carcinoma	head and neck squamous cell carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	557596	\N	\N	EFO	2	EFO	head disease	head and neck squamous cell carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	557597	\N	\N	EFO	2	EFO	neoplasm	head and neck squamous cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	1139882	\N	\N	EFO	3	EFO	cancer	head and neck squamous cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	1139883	\N	\N	EFO	3	EFO	epithelial neoplasm	head and neck squamous cell carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	1139884	\N	\N	EFO	3	EFO	disease	head and neck squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	3176958	\N	\N	EFO	5	EFO	disease	head and neck squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	2022935	\N	\N	EFO	4	EFO	neoplasm	head and neck squamous cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	2022936	\N	\N	EFO	4	EFO	neoplasm	head and neck squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	4066660	\N	\N	EFO	6	EFO	disposition	head and neck squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	5059294	\N	\N	EFO	7	EFO	material property	head and neck squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000181	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	5876508	\N	\N	EFO	8	EFO	experimental factor	head and neck squamous cell carcinoma
EFO:0000182	\N	\N	"Tumors or cancer of the LIVER." []	EFO:0000182	"Tumors or cancer of the LIVER." []	64125	\N	\N	EFO	0	EFO	hepatocellular carcinoma	hepatocellular carcinoma
EFO:0000313	EFO:0000182	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000182	"Tumors or cancer of the LIVER." []	204563	\N	\N	EFO	1	EFO	carcinoma	hepatocellular carcinoma
EFO:1001513	EFO:0000182	\N	"Tumors or cancers of the LIVER." []	EFO:0000182	"Tumors or cancer of the LIVER." []	204564	\N	\N	EFO	1	EFO	liver neoplasm	hepatocellular carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000182	"Tumors or cancer of the LIVER." []	557598	\N	\N	EFO	2	EFO	cancer	hepatocellular carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000182	"Tumors or cancer of the LIVER." []	557599	\N	\N	EFO	2	EFO	epithelial neoplasm	hepatocellular carcinoma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:0000182	"Tumors or cancer of the LIVER." []	557600	\N	\N	EFO	2	EFO	liver disease	hepatocellular carcinoma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0000182	"Tumors or cancer of the LIVER." []	557601	\N	\N	EFO	2	EFO	endocrine neoplasm	hepatocellular carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000182	"Tumors or cancer of the LIVER." []	1139886	\N	\N	EFO	3	EFO	neoplasm	hepatocellular carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000182	"Tumors or cancer of the LIVER." []	1139887	\N	\N	EFO	3	EFO	neoplasm	hepatocellular carcinoma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000182	"Tumors or cancer of the LIVER." []	1139888	\N	\N	EFO	3	EFO	digestive system disease	hepatocellular carcinoma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000182	"Tumors or cancer of the LIVER." []	1139889	\N	\N	EFO	3	EFO	endocrine system disease	hepatocellular carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000182	"Tumors or cancer of the LIVER." []	1139890	\N	\N	EFO	3	EFO	neoplasm	hepatocellular carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000182	"Tumors or cancer of the LIVER." []	1139891	\N	\N	EFO	3	EFO	endocrine system disease	hepatocellular carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000182	"Tumors or cancer of the LIVER." []	2022938	\N	\N	EFO	4	EFO	disease	hepatocellular carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000182	"Tumors or cancer of the LIVER." []	2022939	\N	\N	EFO	4	EFO	disease	hepatocellular carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000182	"Tumors or cancer of the LIVER." []	2022940	\N	\N	EFO	4	EFO	disease	hepatocellular carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000182	"Tumors or cancer of the LIVER." []	3176960	\N	\N	EFO	5	EFO	disposition	hepatocellular carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000182	"Tumors or cancer of the LIVER." []	4387488	\N	\N	EFO	6	EFO	material property	hepatocellular carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000182	"Tumors or cancer of the LIVER." []	5408479	\N	\N	EFO	7	EFO	experimental factor	hepatocellular carcinoma
EFO:0000183	\N	\N	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	EFO:0000183	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	64126	\N	\N	EFO	0	EFO	Hodgkins lymphoma	Hodgkins lymphoma
EFO:0000574	EFO:0000183	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:0000183	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	204565	\N	\N	EFO	1	EFO	lymphoma	Hodgkins lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000183	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	557602	\N	\N	EFO	2	EFO	lymphoid neoplasm	Hodgkins lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000183	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	1139892	\N	\N	EFO	3	EFO	cancer	Hodgkins lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000183	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	1139893	\N	\N	EFO	3	EFO	hematological system disease	Hodgkins lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000183	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	2022941	\N	\N	EFO	4	EFO	neoplasm	Hodgkins lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000183	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	2022942	\N	\N	EFO	4	EFO	disease	Hodgkins lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000183	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	3176961	\N	\N	EFO	5	EFO	disease	Hodgkins lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000183	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	4387489	\N	\N	EFO	6	EFO	disposition	Hodgkins lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000183	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	5180865	\N	\N	EFO	7	EFO	material property	Hodgkins lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000183	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	5996530	\N	\N	EFO	8	EFO	experimental factor	Hodgkins lymphoma
EFO:0000186	\N	\N	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	EFO:0000186	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	64127	\N	\N	EFO	0	EFO	invasive ductal carcinoma	invasive ductal carcinoma
EFO:0000305	EFO:0000186	\N	"Tumors or cancer of the human BREAST." []	EFO:0000186	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	204566	\N	\N	EFO	1	EFO	breast carcinoma	invasive ductal carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000186	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	557603	\N	\N	EFO	2	EFO	carcinoma	invasive ductal carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000186	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	1139894	\N	\N	EFO	3	EFO	cancer	invasive ductal carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000186	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	1139895	\N	\N	EFO	3	EFO	epithelial neoplasm	invasive ductal carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000186	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	2022943	\N	\N	EFO	4	EFO	neoplasm	invasive ductal carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000186	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	2022944	\N	\N	EFO	4	EFO	neoplasm	invasive ductal carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000186	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	3176963	\N	\N	EFO	5	EFO	disease	invasive ductal carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000186	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	4387491	\N	\N	EFO	6	EFO	disposition	invasive ductal carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000186	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	5408481	\N	\N	EFO	7	EFO	material property	invasive ductal carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000186	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	6147389	\N	\N	EFO	8	EFO	experimental factor	invasive ductal carcinoma
EFO:0000187	\N	\N	"A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur." []	EFO:0000187	"A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur." []	64128	\N	\N	EFO	0	EFO	Kaposi's sarcoma cell	Kaposi's sarcoma cell
EFO:0005934	EFO:0000187	\N	"" []	EFO:0000187	"A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur." []	204567	\N	\N	EFO	1	EFO	disease cell type	Kaposi's sarcoma cell
EFO:0000324	EFO:0005934	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0000187	"A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur." []	557604	\N	\N	EFO	2	EFO	cell type	Kaposi's sarcoma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000187	"A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur." []	1139896	\N	\N	EFO	3	EFO	material entity	Kaposi's sarcoma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000187	"A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur." []	2022945	\N	\N	EFO	4	EFO	experimental factor	Kaposi's sarcoma cell
EFO:0000191	\N	\N	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	64129	\N	\N	EFO	0	EFO	MALT lymphoma	MALT lymphoma
EFO:0000096	EFO:0000191	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	204568	\N	\N	EFO	1	EFO	neoplasm of mature B-cells	MALT lymphoma
EFO:0000574	EFO:0000191	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	204569	\N	\N	EFO	1	EFO	lymphoma	MALT lymphoma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	557605	\N	\N	EFO	2	EFO	lymphoid neoplasm	MALT lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	557606	\N	\N	EFO	2	EFO	lymphoid neoplasm	MALT lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	1139897	\N	\N	EFO	3	EFO	cancer	MALT lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	1139898	\N	\N	EFO	3	EFO	hematological system disease	MALT lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	2022946	\N	\N	EFO	4	EFO	neoplasm	MALT lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	2022947	\N	\N	EFO	4	EFO	disease	MALT lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	3176964	\N	\N	EFO	5	EFO	disease	MALT lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	4387492	\N	\N	EFO	6	EFO	disposition	MALT lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	5180866	\N	\N	EFO	7	EFO	material property	MALT lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000191	"Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma." []	5996531	\N	\N	EFO	8	EFO	experimental factor	MALT lymphoma
EFO:0000195	\N	\N	"A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" []	EFO:0000195	"A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" []	64130	\N	\N	EFO	0	EFO	metabolic syndrome	metabolic syndrome
EFO:0000589	EFO:0000195	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0000195	"A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" []	204570	\N	\N	EFO	1	EFO	metabolic disease	metabolic syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000195	"A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" []	557607	\N	\N	EFO	2	EFO	disease	metabolic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000195	"A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" []	1139899	\N	\N	EFO	3	EFO	disposition	metabolic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000195	"A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" []	2022948	\N	\N	EFO	4	EFO	material property	metabolic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000195	"A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" []	3176966	\N	\N	EFO	5	EFO	experimental factor	metabolic syndrome
EFO:0000196	\N	\N	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	64131	\N	\N	EFO	0	EFO	metastatic prostate cancer	metastatic prostate cancer
EFO:0001663	EFO:0000196	\N	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	204571	\N	\N	EFO	1	EFO	prostate carcinoma	metastatic prostate cancer
EFO:0000313	EFO:0001663	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	557608	\N	\N	EFO	2	EFO	carcinoma	metastatic prostate cancer
EFO:0000512	EFO:0001663	\N	"any diease of the reproductive system" []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	557609	\N	\N	EFO	2	EFO	reproductive system disease	metastatic prostate cancer
EFO:0003863	EFO:0001663	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	557610	\N	\N	EFO	2	EFO	urogenital neoplasm	metastatic prostate cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	1139900	\N	\N	EFO	3	EFO	cancer	metastatic prostate cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	1139901	\N	\N	EFO	3	EFO	epithelial neoplasm	metastatic prostate cancer
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	1139902	\N	\N	EFO	3	EFO	disease	metastatic prostate cancer
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	1139903	\N	\N	EFO	3	EFO	neoplasm	metastatic prostate cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	2022949	\N	\N	EFO	4	EFO	neoplasm	metastatic prostate cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	2022950	\N	\N	EFO	4	EFO	neoplasm	metastatic prostate cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	4132512	\N	\N	EFO	6	EFO	disposition	metastatic prostate cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	3176967	\N	\N	EFO	5	EFO	disease	metastatic prostate cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	5059295	\N	\N	EFO	7	EFO	material property	metastatic prostate cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000196	"A carcinoma that arises from the prostate gland and has spread to other anatomic sites." []	5876509	\N	\N	EFO	8	EFO	experimental factor	metastatic prostate cancer
EFO:0000197	\N	\N	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	EFO:0000197	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	64132	\N	\N	EFO	0	EFO	mucinous carcinoma	mucinous carcinoma
EFO:0000313	EFO:0000197	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000197	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	204572	\N	\N	EFO	1	EFO	carcinoma	mucinous carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000197	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	557611	\N	\N	EFO	2	EFO	cancer	mucinous carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000197	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	557612	\N	\N	EFO	2	EFO	epithelial neoplasm	mucinous carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000197	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	1139904	\N	\N	EFO	3	EFO	neoplasm	mucinous carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000197	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	1139905	\N	\N	EFO	3	EFO	neoplasm	mucinous carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000197	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	2022953	\N	\N	EFO	4	EFO	disease	mucinous carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000197	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	3176970	\N	\N	EFO	5	EFO	disposition	mucinous carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000197	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	4387495	\N	\N	EFO	6	EFO	material property	mucinous carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000197	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	5408483	\N	\N	EFO	7	EFO	experimental factor	mucinous carcinoma
EFO:0000198	\N	\N	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	EFO:0000198	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	64133	\N	\N	EFO	0	EFO	myelodysplastic syndrome	myelodysplastic syndrome
EFO:0002427	EFO:0000198	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0000198	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	204573	\N	\N	EFO	1	EFO	myeloid neoplasm	myelodysplastic syndrome
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000198	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	557613	\N	\N	EFO	2	EFO	lymphoid neoplasm	myelodysplastic syndrome
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000198	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	1139906	\N	\N	EFO	3	EFO	cancer	myelodysplastic syndrome
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000198	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	1139907	\N	\N	EFO	3	EFO	hematological system disease	myelodysplastic syndrome
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000198	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	2022954	\N	\N	EFO	4	EFO	neoplasm	myelodysplastic syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000198	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	2022955	\N	\N	EFO	4	EFO	disease	myelodysplastic syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000198	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	3176971	\N	\N	EFO	5	EFO	disease	myelodysplastic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000198	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	4387496	\N	\N	EFO	6	EFO	disposition	myelodysplastic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000198	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	5180868	\N	\N	EFO	7	EFO	material property	myelodysplastic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000198	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	5996532	\N	\N	EFO	8	EFO	experimental factor	myelodysplastic syndrome
EFO:0000199	\N	\N	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	64134	\N	\N	EFO	0	EFO	oral squamous cell carcinoma	oral squamous cell carcinoma
EFO:0000181	EFO:0000199	\N	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	204574	\N	\N	EFO	1	EFO	head and neck squamous cell carcinoma	oral squamous cell carcinoma
EFO:0003868	EFO:0000199	\N	"Tumors or cancer of the MOUTH." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	204575	\N	\N	EFO	1	EFO	mouth neoplasm	oral squamous cell carcinoma
EFO:0000707	EFO:0000181	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	557614	\N	\N	EFO	2	EFO	squamous cell carcinoma	oral squamous cell carcinoma
EFO:0005950	EFO:0000181	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	557615	\N	\N	EFO	2	EFO	head and neck neoplasia	oral squamous cell carcinoma
EFO:0005950	EFO:0003868	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	557616	\N	\N	EFO	2	EFO	head and neck neoplasia	oral squamous cell carcinoma
EFO:1001047	EFO:0003868	\N	"Any disease of the oral cavity" []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	557617	\N	\N	EFO	2	EFO	mouth disease	oral squamous cell carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	1139908	\N	\N	EFO	3	EFO	carcinoma	oral squamous cell carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	1139909	\N	\N	EFO	3	EFO	head disease	oral squamous cell carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	1139910	\N	\N	EFO	3	EFO	neoplasm	oral squamous cell carcinoma
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	1139911	\N	\N	EFO	3	EFO	digestive system disease	oral squamous cell carcinoma
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	1139912	\N	\N	EFO	3	EFO	head disease	oral squamous cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	2022956	\N	\N	EFO	4	EFO	cancer	oral squamous cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	2022957	\N	\N	EFO	4	EFO	epithelial neoplasm	oral squamous cell carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	2022958	\N	\N	EFO	4	EFO	disease	oral squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	4387498	\N	\N	EFO	6	EFO	disease	oral squamous cell carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	2022960	\N	\N	EFO	4	EFO	disease	oral squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	3176973	\N	\N	EFO	5	EFO	neoplasm	oral squamous cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	3176974	\N	\N	EFO	5	EFO	neoplasm	oral squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	5059296	\N	\N	EFO	7	EFO	disposition	oral squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	5876510	\N	\N	EFO	8	EFO	material property	oral squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000199	"cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue." []	6469809	\N	\N	EFO	9	EFO	experimental factor	oral squamous cell carcinoma
EFO:0000200	\N	\N	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	EFO:0000200	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	64135	\N	\N	EFO	0	EFO	plasma cell neoplasm	plasma cell neoplasm
EFO:0000096	EFO:0000200	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:0000200	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	204576	\N	\N	EFO	1	EFO	neoplasm of mature B-cells	plasma cell neoplasm
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000200	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	557618	\N	\N	EFO	2	EFO	lymphoid neoplasm	plasma cell neoplasm
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000200	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	1139913	\N	\N	EFO	3	EFO	cancer	plasma cell neoplasm
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000200	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	1139914	\N	\N	EFO	3	EFO	hematological system disease	plasma cell neoplasm
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000200	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	2022961	\N	\N	EFO	4	EFO	neoplasm	plasma cell neoplasm
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000200	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	2022962	\N	\N	EFO	4	EFO	disease	plasma cell neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000200	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	3176976	\N	\N	EFO	5	EFO	disease	plasma cell neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000200	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	4387500	\N	\N	EFO	6	EFO	disposition	plasma cell neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000200	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	5180869	\N	\N	EFO	7	EFO	material property	plasma cell neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000200	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	5996533	\N	\N	EFO	8	EFO	experimental factor	plasma cell neoplasm
EFO:0000203	\N	\N	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	EFO:0000203	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	64136	\N	\N	EFO	0	EFO	monoclonal gammopathy	monoclonal gammopathy
EFO:0000200	EFO:0000203	\N	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	EFO:0000203	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	204577	\N	\N	EFO	1	EFO	plasma cell neoplasm	monoclonal gammopathy
EFO:0000096	EFO:0000200	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:0000203	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	557619	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	monoclonal gammopathy
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000203	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	1139915	\N	\N	EFO	3	EFO	lymphoid neoplasm	monoclonal gammopathy
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000203	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	2022963	\N	\N	EFO	4	EFO	cancer	monoclonal gammopathy
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000203	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	2022964	\N	\N	EFO	4	EFO	hematological system disease	monoclonal gammopathy
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000203	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	3176978	\N	\N	EFO	5	EFO	neoplasm	monoclonal gammopathy
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000203	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	3176979	\N	\N	EFO	5	EFO	disease	monoclonal gammopathy
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000203	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	4387502	\N	\N	EFO	6	EFO	disease	monoclonal gammopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000203	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	5408487	\N	\N	EFO	7	EFO	disposition	monoclonal gammopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000203	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	5996534	\N	\N	EFO	8	EFO	material property	monoclonal gammopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000203	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	6550348	\N	\N	EFO	9	EFO	experimental factor	monoclonal gammopathy
EFO:0000205	\N	\N	"Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." []	EFO:0000205	"Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." []	64137	\N	\N	EFO	0	EFO	stage I endometrioid carcinoma	stage I endometrioid carcinoma
EFO:0000313	EFO:0000205	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000205	"Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." []	204578	\N	\N	EFO	1	EFO	carcinoma	stage I endometrioid carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000205	"Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." []	557620	\N	\N	EFO	2	EFO	cancer	stage I endometrioid carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000205	"Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." []	557621	\N	\N	EFO	2	EFO	epithelial neoplasm	stage I endometrioid carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000205	"Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." []	1139916	\N	\N	EFO	3	EFO	neoplasm	stage I endometrioid carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000205	"Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." []	1139917	\N	\N	EFO	3	EFO	neoplasm	stage I endometrioid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000205	"Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." []	2022965	\N	\N	EFO	4	EFO	disease	stage I endometrioid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000205	"Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." []	3176980	\N	\N	EFO	5	EFO	disposition	stage I endometrioid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000205	"Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." []	4387504	\N	\N	EFO	6	EFO	material property	stage I endometrioid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000205	"Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." []	5408489	\N	\N	EFO	7	EFO	experimental factor	stage I endometrioid carcinoma
EFO:0000206	\N	\N	"Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has not spread outside of the uterus." []	EFO:0000206	"Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has not spread outside of the uterus." []	64138	\N	\N	EFO	0	EFO	stage II endometrioid carcinoma	stage II endometrioid carcinoma
EFO:0000313	EFO:0000206	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000206	"Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has not spread outside of the uterus." []	204579	\N	\N	EFO	1	EFO	carcinoma	stage II endometrioid carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000206	"Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has not spread outside of the uterus." []	557622	\N	\N	EFO	2	EFO	cancer	stage II endometrioid carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000206	"Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has not spread outside of the uterus." []	557623	\N	\N	EFO	2	EFO	epithelial neoplasm	stage II endometrioid carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000206	"Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has not spread outside of the uterus." []	1139918	\N	\N	EFO	3	EFO	neoplasm	stage II endometrioid carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000206	"Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has not spread outside of the uterus." []	1139919	\N	\N	EFO	3	EFO	neoplasm	stage II endometrioid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000206	"Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has not spread outside of the uterus." []	2022966	\N	\N	EFO	4	EFO	disease	stage II endometrioid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000206	"Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has not spread outside of the uterus." []	3176981	\N	\N	EFO	5	EFO	disposition	stage II endometrioid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000206	"Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has not spread outside of the uterus." []	4387505	\N	\N	EFO	6	EFO	material property	stage II endometrioid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000206	"Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has not spread outside of the uterus." []	5408490	\N	\N	EFO	7	EFO	experimental factor	stage II endometrioid carcinoma
EFO:0000209	\N	\N	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	EFO:0000209	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	64139	\N	\N	EFO	0	EFO	T-cell acute lymphoblastic leukemia	T-cell acute lymphoblastic leukemia
EFO:0000220	EFO:0000209	\N	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	EFO:0000209	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	204580	\N	\N	EFO	1	EFO	acute lymphoblastic leukemia	T-cell acute lymphoblastic leukemia
EFO:0002425	EFO:0000220	\N	"a neoplasm arising from immature B and T cells" []	EFO:0000209	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	557624	\N	\N	EFO	2	EFO	neoplasm of immature B and T cells	T-cell acute lymphoblastic leukemia
EFO:0001642	EFO:0002425	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000209	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	1139920	\N	\N	EFO	3	EFO	lymphoid neoplasm	T-cell acute lymphoblastic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000209	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	2022967	\N	\N	EFO	4	EFO	cancer	T-cell acute lymphoblastic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000209	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	2022968	\N	\N	EFO	4	EFO	hematological system disease	T-cell acute lymphoblastic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000209	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	3176982	\N	\N	EFO	5	EFO	neoplasm	T-cell acute lymphoblastic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000209	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	3176983	\N	\N	EFO	5	EFO	disease	T-cell acute lymphoblastic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000209	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	4387506	\N	\N	EFO	6	EFO	disease	T-cell acute lymphoblastic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000209	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	5408491	\N	\N	EFO	7	EFO	disposition	T-cell acute lymphoblastic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000209	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	5996535	\N	\N	EFO	8	EFO	material property	T-cell acute lymphoblastic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000209	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	6550349	\N	\N	EFO	9	EFO	experimental factor	T-cell acute lymphoblastic leukemia
EFO:0000211	\N	\N	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	64140	\N	\N	EFO	0	EFO	unspecified peripheral T-cell lymphoma	unspecified peripheral T-cell lymphoma
EFO:0000574	EFO:0000211	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	204581	\N	\N	EFO	1	EFO	lymphoma	unspecified peripheral T-cell lymphoma
EFO:0002426	EFO:0000211	\N	"a neoplasm arising from mature T-cells or natural killer cells" []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	204582	\N	\N	EFO	1	EFO	neoplasm of mature T-cells or NK-cells	unspecified peripheral T-cell lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	557625	\N	\N	EFO	2	EFO	lymphoid neoplasm	unspecified peripheral T-cell lymphoma
EFO:0001642	EFO:0002426	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	557626	\N	\N	EFO	2	EFO	lymphoid neoplasm	unspecified peripheral T-cell lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	1139921	\N	\N	EFO	3	EFO	cancer	unspecified peripheral T-cell lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	1139922	\N	\N	EFO	3	EFO	hematological system disease	unspecified peripheral T-cell lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	2022969	\N	\N	EFO	4	EFO	neoplasm	unspecified peripheral T-cell lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	2022970	\N	\N	EFO	4	EFO	disease	unspecified peripheral T-cell lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	3176984	\N	\N	EFO	5	EFO	disease	unspecified peripheral T-cell lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	4387508	\N	\N	EFO	6	EFO	disposition	unspecified peripheral T-cell lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	5180870	\N	\N	EFO	7	EFO	material property	unspecified peripheral T-cell lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000211	"Peripheral T-cell Lymphoma Not Otherwise Specified(PTCL NOS) refers to a group of diseases that do not fit into any of the other subtypes of PTCL. PTCL-NOS is the most common PTCL subtype, making up about one quarter of all PTCLs. It is also the most common of all the T-cell lymphomas. The term PTCL can be confusing as it can refer to the entire spectrum of mature T-cell lymphomas, but it can also refer to the specific PTCL-NOS subtype. Although most patients with PTCL-NOS are diagnosed with their disease confined to the lymph nodes, sites outside the lymph nodes, such as the liver, bone marrow, gastrointestinal tract, and skin, may also be involved. This group of PTCLs is aggressive and requires combination chemotherapy upon diagnosis." []	5996536	\N	\N	EFO	8	EFO	experimental factor	unspecified peripheral T-cell lymphoma
EFO:0000216	\N	\N	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	EFO:0000216	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	64141	\N	\N	EFO	0	EFO	acinar cell carcinoma	acinar cell carcinoma
EFO:0000313	EFO:0000216	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000216	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	204583	\N	\N	EFO	1	EFO	carcinoma	acinar cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000216	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	557627	\N	\N	EFO	2	EFO	cancer	acinar cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000216	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	557628	\N	\N	EFO	2	EFO	epithelial neoplasm	acinar cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000216	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	1139923	\N	\N	EFO	3	EFO	neoplasm	acinar cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000216	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	1139924	\N	\N	EFO	3	EFO	neoplasm	acinar cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000216	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	2022971	\N	\N	EFO	4	EFO	disease	acinar cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000216	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	3176986	\N	\N	EFO	5	EFO	disposition	acinar cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000216	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	4387510	\N	\N	EFO	6	EFO	material property	acinar cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000216	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	5408494	\N	\N	EFO	7	EFO	experimental factor	acinar cell carcinoma
EFO:0000217	\N	\N	"Inflammation of the stomach." []	EFO:0000217	"Inflammation of the stomach." []	64142	\N	\N	EFO	0	EFO	gastritis	gastritis
EFO:0000405	EFO:0000217	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000217	"Inflammation of the stomach." []	204584	\N	\N	EFO	1	EFO	digestive system disease	gastritis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000217	"Inflammation of the stomach." []	557629	\N	\N	EFO	2	EFO	disease	gastritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000217	"Inflammation of the stomach." []	1139925	\N	\N	EFO	3	EFO	disposition	gastritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000217	"Inflammation of the stomach." []	2022972	\N	\N	EFO	4	EFO	material property	gastritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000217	"Inflammation of the stomach." []	3176987	\N	\N	EFO	5	EFO	experimental factor	gastritis
EFO:0000218	\N	\N	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	64143	\N	\N	EFO	0	EFO	acute erythroleukemia	acute erythroleukemia
EFO:0000222	EFO:0000218	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	204585	\N	\N	EFO	1	EFO	acute myeloid leukemia	acute erythroleukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	557630	\N	\N	EFO	2	EFO	myeloid neoplasm	acute erythroleukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	557631	\N	\N	EFO	2	EFO	Acute Leukemia	acute erythroleukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	1139926	\N	\N	EFO	3	EFO	lymphoid neoplasm	acute erythroleukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	1139927	\N	\N	EFO	3	EFO	leukemia	acute erythroleukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	3176990	\N	\N	EFO	5	EFO	cancer	acute erythroleukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	3176991	\N	\N	EFO	5	EFO	hematological system disease	acute erythroleukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	2022975	\N	\N	EFO	4	EFO	lymphoid neoplasm	acute erythroleukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	4132513	\N	\N	EFO	6	EFO	neoplasm	acute erythroleukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	4132514	\N	\N	EFO	6	EFO	disease	acute erythroleukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	5180871	\N	\N	EFO	7	EFO	disease	acute erythroleukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	5996537	\N	\N	EFO	8	EFO	disposition	acute erythroleukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	6469810	\N	\N	EFO	9	EFO	material property	acute erythroleukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000218	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	6848212	\N	\N	EFO	10	EFO	experimental factor	acute erythroleukemia
EFO:0000220	\N	\N	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	EFO:0000220	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	64144	\N	\N	EFO	0	EFO	acute lymphoblastic leukemia	acute lymphoblastic leukemia
EFO:0002425	EFO:0000220	\N	"a neoplasm arising from immature B and T cells" []	EFO:0000220	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	204586	\N	\N	EFO	1	EFO	neoplasm of immature B and T cells	acute lymphoblastic leukemia
EFO:0001642	EFO:0002425	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000220	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	557632	\N	\N	EFO	2	EFO	lymphoid neoplasm	acute lymphoblastic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000220	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	1139928	\N	\N	EFO	3	EFO	cancer	acute lymphoblastic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000220	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	1139929	\N	\N	EFO	3	EFO	hematological system disease	acute lymphoblastic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000220	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	2022976	\N	\N	EFO	4	EFO	neoplasm	acute lymphoblastic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000220	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	2022977	\N	\N	EFO	4	EFO	disease	acute lymphoblastic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000220	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	3176992	\N	\N	EFO	5	EFO	disease	acute lymphoblastic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000220	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	4387513	\N	\N	EFO	6	EFO	disposition	acute lymphoblastic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000220	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	5180873	\N	\N	EFO	7	EFO	material property	acute lymphoblastic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000220	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	5996539	\N	\N	EFO	8	EFO	experimental factor	acute lymphoblastic leukemia
EFO:0000221	\N	\N	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	64145	\N	\N	EFO	0	EFO	acute monocytic leukemia	acute monocytic leukemia
EFO:0000222	EFO:0000221	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	204587	\N	\N	EFO	1	EFO	acute myeloid leukemia	acute monocytic leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	557633	\N	\N	EFO	2	EFO	myeloid neoplasm	acute monocytic leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	557634	\N	\N	EFO	2	EFO	Acute Leukemia	acute monocytic leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	1139930	\N	\N	EFO	3	EFO	lymphoid neoplasm	acute monocytic leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	1139931	\N	\N	EFO	3	EFO	leukemia	acute monocytic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	3176996	\N	\N	EFO	5	EFO	cancer	acute monocytic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	3176997	\N	\N	EFO	5	EFO	hematological system disease	acute monocytic leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	2022980	\N	\N	EFO	4	EFO	lymphoid neoplasm	acute monocytic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	4132515	\N	\N	EFO	6	EFO	neoplasm	acute monocytic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	4132516	\N	\N	EFO	6	EFO	disease	acute monocytic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	5180874	\N	\N	EFO	7	EFO	disease	acute monocytic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	5996540	\N	\N	EFO	8	EFO	disposition	acute monocytic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	6469811	\N	\N	EFO	9	EFO	material property	acute monocytic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000221	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	6848213	\N	\N	EFO	10	EFO	experimental factor	acute monocytic leukemia
EFO:0000222	\N	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	64146	\N	\N	EFO	0	EFO	acute myeloid leukemia	acute myeloid leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	204588	\N	\N	EFO	1	EFO	myeloid neoplasm	acute myeloid leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	204589	\N	\N	EFO	1	EFO	Acute Leukemia	acute myeloid leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	557635	\N	\N	EFO	2	EFO	lymphoid neoplasm	acute myeloid leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	557636	\N	\N	EFO	2	EFO	leukemia	acute myeloid leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	2022983	\N	\N	EFO	4	EFO	cancer	acute myeloid leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	2022984	\N	\N	EFO	4	EFO	hematological system disease	acute myeloid leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	1139934	\N	\N	EFO	3	EFO	lymphoid neoplasm	acute myeloid leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	2999226	\N	\N	EFO	5	EFO	neoplasm	acute myeloid leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	2999227	\N	\N	EFO	5	EFO	disease	acute myeloid leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	4132517	\N	\N	EFO	6	EFO	disease	acute myeloid leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	5180876	\N	\N	EFO	7	EFO	disposition	acute myeloid leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	5876511	\N	\N	EFO	8	EFO	material property	acute myeloid leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000222	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	6469812	\N	\N	EFO	9	EFO	experimental factor	acute myeloid leukemia
EFO:0000223	\N	\N	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	64147	\N	\N	EFO	0	EFO	acute myelomonocytic leukemia	acute myelomonocytic leukemia
EFO:0000222	EFO:0000223	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	204590	\N	\N	EFO	1	EFO	acute myeloid leukemia	acute myelomonocytic leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	557637	\N	\N	EFO	2	EFO	myeloid neoplasm	acute myelomonocytic leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	557638	\N	\N	EFO	2	EFO	Acute Leukemia	acute myelomonocytic leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	1139935	\N	\N	EFO	3	EFO	lymphoid neoplasm	acute myelomonocytic leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	1139936	\N	\N	EFO	3	EFO	leukemia	acute myelomonocytic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	3177002	\N	\N	EFO	5	EFO	cancer	acute myelomonocytic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	3177003	\N	\N	EFO	5	EFO	hematological system disease	acute myelomonocytic leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	2022987	\N	\N	EFO	4	EFO	lymphoid neoplasm	acute myelomonocytic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	4132519	\N	\N	EFO	6	EFO	neoplasm	acute myelomonocytic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	4132520	\N	\N	EFO	6	EFO	disease	acute myelomonocytic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	5180878	\N	\N	EFO	7	EFO	disease	acute myelomonocytic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	5996543	\N	\N	EFO	8	EFO	disposition	acute myelomonocytic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	6469813	\N	\N	EFO	9	EFO	material property	acute myelomonocytic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000223	"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  Patients typically present with anemia, thrombocytopenia, fever and fatigue.  This type of leukemia frequently responds to aggressive therapy.  (WHO, 2001) -- 2003" []	6848214	\N	\N	EFO	10	EFO	experimental factor	acute myelomonocytic leukemia
EFO:0000224	\N	\N	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	64148	\N	\N	EFO	0	EFO	acute promyelocytic leukemia	acute promyelocytic leukemia
EFO:0000222	EFO:0000224	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	204591	\N	\N	EFO	1	EFO	acute myeloid leukemia	acute promyelocytic leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	557639	\N	\N	EFO	2	EFO	myeloid neoplasm	acute promyelocytic leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	557640	\N	\N	EFO	2	EFO	Acute Leukemia	acute promyelocytic leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	1139937	\N	\N	EFO	3	EFO	lymphoid neoplasm	acute promyelocytic leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	1139938	\N	\N	EFO	3	EFO	leukemia	acute promyelocytic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	3177006	\N	\N	EFO	5	EFO	cancer	acute promyelocytic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	3177007	\N	\N	EFO	5	EFO	hematological system disease	acute promyelocytic leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	2022990	\N	\N	EFO	4	EFO	lymphoid neoplasm	acute promyelocytic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	4132521	\N	\N	EFO	6	EFO	neoplasm	acute promyelocytic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	4132522	\N	\N	EFO	6	EFO	disease	acute promyelocytic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	5180880	\N	\N	EFO	7	EFO	disease	acute promyelocytic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	5996545	\N	\N	EFO	8	EFO	disposition	acute promyelocytic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	6469814	\N	\N	EFO	9	EFO	material property	acute promyelocytic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000224	"An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)" []	6848215	\N	\N	EFO	10	EFO	experimental factor	acute promyelocytic leukemia
EFO:0000225	\N	\N	"Acute Quadriplegic Myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." []	EFO:0000225	"Acute Quadriplegic Myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." []	64149	\N	\N	EFO	0	EFO	acute quadriplegic myopathy	acute quadriplegic myopathy
EFO:0004145	EFO:0000225	\N	"A muscular disease in which the muscle fibers do not function resulting in muscular weakness." []	EFO:0000225	"Acute Quadriplegic Myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." []	204592	\N	\N	EFO	1	EFO	myopathy	acute quadriplegic myopathy
EFO:0002970	EFO:0004145	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:0000225	"Acute Quadriplegic Myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." []	557641	\N	\N	EFO	2	EFO	muscular disease	acute quadriplegic myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:0000225	"Acute Quadriplegic Myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." []	1139939	\N	\N	EFO	3	EFO	skeletal system disease	acute quadriplegic myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000225	"Acute Quadriplegic Myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." []	2022991	\N	\N	EFO	4	EFO	disease	acute quadriplegic myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000225	"Acute Quadriplegic Myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." []	3177008	\N	\N	EFO	5	EFO	disposition	acute quadriplegic myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000225	"Acute Quadriplegic Myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." []	4387522	\N	\N	EFO	6	EFO	material property	acute quadriplegic myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000225	"Acute Quadriplegic Myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." []	5408501	\N	\N	EFO	7	EFO	experimental factor	acute quadriplegic myopathy
EFO:0000228	\N	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0000228	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	64150	\N	\N	EFO	0	EFO	adenocarcinoma	adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000228	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	204593	\N	\N	EFO	1	EFO	carcinoma	adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000228	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	557642	\N	\N	EFO	2	EFO	cancer	adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000228	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	557643	\N	\N	EFO	2	EFO	epithelial neoplasm	adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000228	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	1139940	\N	\N	EFO	3	EFO	neoplasm	adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000228	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	1139941	\N	\N	EFO	3	EFO	neoplasm	adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000228	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	2022992	\N	\N	EFO	4	EFO	disease	adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000228	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	3177009	\N	\N	EFO	5	EFO	disposition	adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000228	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	4387523	\N	\N	EFO	6	EFO	material property	adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000228	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	5408502	\N	\N	EFO	7	EFO	experimental factor	adenocarcinoma
EFO:0000231	\N	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:0000231	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	64151	\N	\N	EFO	0	EFO	adenoid cystic carcinoma	adenoid cystic carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000231	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	204594	\N	\N	EFO	1	EFO	carcinoma	adenoid cystic carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000231	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	557644	\N	\N	EFO	2	EFO	cancer	adenoid cystic carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000231	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	557645	\N	\N	EFO	2	EFO	epithelial neoplasm	adenoid cystic carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000231	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	1139942	\N	\N	EFO	3	EFO	neoplasm	adenoid cystic carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000231	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	1139943	\N	\N	EFO	3	EFO	neoplasm	adenoid cystic carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000231	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	2022993	\N	\N	EFO	4	EFO	disease	adenoid cystic carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000231	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	3177010	\N	\N	EFO	5	EFO	disposition	adenoid cystic carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000231	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	4387524	\N	\N	EFO	6	EFO	material property	adenoid cystic carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000231	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	5408503	\N	\N	EFO	7	EFO	experimental factor	adenoid cystic carcinoma
EFO:0000232	\N	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:0000232	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	64152	\N	\N	EFO	0	EFO	adenoma	adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0000232	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	204595	\N	\N	EFO	1	EFO	benign neoplasm	adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000232	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	557646	\N	\N	EFO	2	EFO	neoplasm	adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000232	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	1139944	\N	\N	EFO	3	EFO	disease	adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000232	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	2022994	\N	\N	EFO	4	EFO	disposition	adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000232	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	3177011	\N	\N	EFO	5	EFO	material property	adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000232	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	4387525	\N	\N	EFO	6	EFO	experimental factor	adenoma
EFO:0000233	\N	\N	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	64153	\N	\N	EFO	0	EFO	adenosquamous lung carcinoma	adenosquamous lung carcinoma
EFO:0001071	EFO:0000233	\N	"Tumors or cancer of the LUNG." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	204596	\N	\N	EFO	1	EFO	lung carcinoma	adenosquamous lung carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	557647	\N	\N	EFO	2	EFO	carcinoma	adenosquamous lung carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	557648	\N	\N	EFO	2	EFO	lung disease	adenosquamous lung carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	557649	\N	\N	EFO	2	EFO	respiratory system neoplasm	adenosquamous lung carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	1139945	\N	\N	EFO	3	EFO	cancer	adenosquamous lung carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	1139946	\N	\N	EFO	3	EFO	epithelial neoplasm	adenosquamous lung carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	1139947	\N	\N	EFO	3	EFO	respiratory system disease	adenosquamous lung carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	1139948	\N	\N	EFO	3	EFO	neoplasm	adenosquamous lung carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	1139949	\N	\N	EFO	3	EFO	respiratory system disease	adenosquamous lung carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	2022995	\N	\N	EFO	4	EFO	neoplasm	adenosquamous lung carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	2022996	\N	\N	EFO	4	EFO	neoplasm	adenosquamous lung carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	2022997	\N	\N	EFO	4	EFO	disease	adenosquamous lung carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	3177012	\N	\N	EFO	5	EFO	disease	adenosquamous lung carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	4132523	\N	\N	EFO	6	EFO	disposition	adenosquamous lung carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	5180882	\N	\N	EFO	7	EFO	material property	adenosquamous lung carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000233	"An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." []	5996547	\N	\N	EFO	8	EFO	experimental factor	adenosquamous lung carcinoma
EFO:0000239	\N	\N	"A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines.  It arises from the chromaffin cells of the adrenal medulla.  Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor.  Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen.  Other growth patterns including trabecular pattern may also be present." []	EFO:0000239	"A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines.  It arises from the chromaffin cells of the adrenal medulla.  Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor.  Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen.  Other growth patterns including trabecular pattern may also be present." []	64154	\N	\N	EFO	0	EFO	adrenal gland pheochromocytoma	adrenal gland pheochromocytoma
EFO:0003850	EFO:0000239	\N	"Tumors or cancer of the ADRENAL GLANDS." []	EFO:0000239	"A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines.  It arises from the chromaffin cells of the adrenal medulla.  Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor.  Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen.  Other growth patterns including trabecular pattern may also be present." []	204597	\N	\N	EFO	1	EFO	adrenal gland neoplasm	adrenal gland pheochromocytoma
EFO:0000616	EFO:0003850	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000239	"A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines.  It arises from the chromaffin cells of the adrenal medulla.  Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor.  Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen.  Other growth patterns including trabecular pattern may also be present." []	557650	\N	\N	EFO	2	EFO	neoplasm	adrenal gland pheochromocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000239	"A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines.  It arises from the chromaffin cells of the adrenal medulla.  Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor.  Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen.  Other growth patterns including trabecular pattern may also be present." []	1139950	\N	\N	EFO	3	EFO	disease	adrenal gland pheochromocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000239	"A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines.  It arises from the chromaffin cells of the adrenal medulla.  Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor.  Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen.  Other growth patterns including trabecular pattern may also be present." []	2022999	\N	\N	EFO	4	EFO	disposition	adrenal gland pheochromocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000239	"A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines.  It arises from the chromaffin cells of the adrenal medulla.  Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor.  Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen.  Other growth patterns including trabecular pattern may also be present." []	3177014	\N	\N	EFO	5	EFO	material property	adrenal gland pheochromocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000239	"A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines.  It arises from the chromaffin cells of the adrenal medulla.  Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor.  Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen.  Other growth patterns including trabecular pattern may also be present." []	4387527	\N	\N	EFO	6	EFO	experimental factor	adrenal gland pheochromocytoma
EFO:0000244	\N	\N	"" []	EFO:0000244	"" []	64155	\N	\N	EFO	0	EFO	adult midgut precursor	adult midgut precursor
EFO:0000795	EFO:0000244	\N	"Embryonic structure (body structure)" []	EFO:0000244	"" []	204598	\N	\N	EFO	1	EFO	animal developmental tissue	adult midgut precursor
EFO:0000787	EFO:0000795	\N	"" []	EFO:0000244	"" []	557651	\N	\N	EFO	2	EFO	animal component	adult midgut precursor
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000244	"" []	1139951	\N	\N	EFO	3	EFO	anatomy basic component	adult midgut precursor
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000244	"" []	2023000	\N	\N	EFO	4	EFO	organism part	adult midgut precursor
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000244	"" []	3177015	\N	\N	EFO	5	EFO	material entity	adult midgut precursor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000244	"" []	4387528	\N	\N	EFO	6	EFO	experimental factor	adult midgut precursor
EFO:0000246	\N	\N	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	EFO:0000246	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	64156	\N	\N	EFO	0	EFO	age	age
EFO:0000719	EFO:0000246	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0000246	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	204599	\N	\N	EFO	1	EFO	temporal measurement	age
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000246	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	557652	\N	\N	EFO	2	EFO	measurement	age
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000246	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	1139952	\N	\N	EFO	3	EFO	information entity	age
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000246	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	2023001	\N	\N	EFO	4	EFO	experimental factor	age
EFO:0000248	\N	\N	"Alveolar" []	EFO:0000248	"Alveolar" []	64157	\N	\N	EFO	0	EFO	alveolar rhabdomyosarcoma	alveolar rhabdomyosarcoma
EFO:0002918	EFO:0000248	\N	"A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.\\n\\nA malignant mesenchymal neoplasm arising from skeletal muscle.\\n\\nCancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body." []	EFO:0000248	"Alveolar" []	204600	\N	\N	EFO	1	EFO	rhabdomyosarcoma	alveolar rhabdomyosarcoma
EFO:0000691	EFO:0002918	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000248	"Alveolar" []	557653	\N	\N	EFO	2	EFO	sarcoma	alveolar rhabdomyosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000248	"Alveolar" []	1139953	\N	\N	EFO	3	EFO	cancer	alveolar rhabdomyosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000248	"Alveolar" []	2023002	\N	\N	EFO	4	EFO	neoplasm	alveolar rhabdomyosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000248	"Alveolar" []	3177016	\N	\N	EFO	5	EFO	disease	alveolar rhabdomyosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000248	"Alveolar" []	4387529	\N	\N	EFO	6	EFO	disposition	alveolar rhabdomyosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000248	"Alveolar" []	5408505	\N	\N	EFO	7	EFO	material property	alveolar rhabdomyosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000248	"Alveolar" []	6147396	\N	\N	EFO	8	EFO	experimental factor	alveolar rhabdomyosarcoma
EFO:0000249	\N	\N	"A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." []	EFO:0000249	"A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." []	64158	\N	\N	EFO	0	EFO	Alzheimers disease	Alzheimers disease
EFO:0005815	EFO:0000249	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	EFO:0000249	"A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." []	204601	\N	\N	EFO	1	EFO	tauopathy	Alzheimers disease
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:0000249	"A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." []	557654	\N	\N	EFO	2	EFO	neurodegenerative disease	Alzheimers disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000249	"A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." []	1139954	\N	\N	EFO	3	EFO	nervous system disease	Alzheimers disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000249	"A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." []	2023003	\N	\N	EFO	4	EFO	disease	Alzheimers disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000249	"A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." []	3177017	\N	\N	EFO	5	EFO	disposition	Alzheimers disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000249	"A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." []	4387530	\N	\N	EFO	6	EFO	material property	Alzheimers disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000249	"A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." []	5408506	\N	\N	EFO	7	EFO	experimental factor	Alzheimers disease
EFO:0000253	\N	\N	"An autosomal dominant inherited form of amyloidosis." []	EFO:0000253	"An autosomal dominant inherited form of amyloidosis." []	64159	\N	\N	EFO	0	EFO	amyotrophic lateral sclerosis	amyotrophic lateral sclerosis
EFO:0003782	EFO:0000253	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	EFO:0000253	"An autosomal dominant inherited form of amyloidosis." []	204602	\N	\N	EFO	1	EFO	motor neuron disease	amyotrophic lateral sclerosis
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:0000253	"An autosomal dominant inherited form of amyloidosis." []	557655	\N	\N	EFO	2	EFO	neurodegenerative disease	amyotrophic lateral sclerosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000253	"An autosomal dominant inherited form of amyloidosis." []	1139955	\N	\N	EFO	3	EFO	nervous system disease	amyotrophic lateral sclerosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000253	"An autosomal dominant inherited form of amyloidosis." []	2023004	\N	\N	EFO	4	EFO	disease	amyotrophic lateral sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000253	"An autosomal dominant inherited form of amyloidosis." []	3177018	\N	\N	EFO	5	EFO	disposition	amyotrophic lateral sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000253	"An autosomal dominant inherited form of amyloidosis." []	4387531	\N	\N	EFO	6	EFO	material property	amyotrophic lateral sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000253	"An autosomal dominant inherited form of amyloidosis." []	5408507	\N	\N	EFO	7	EFO	experimental factor	amyotrophic lateral sclerosis
EFO:0000254	\N	\N	"" []	EFO:0000254	"" []	64160	\N	\N	EFO	0	EFO	anal pad specific anlage	anal pad specific anlage
UBERON:0001353	\N	\N	"The anus and surrounding regions. Encompasses both internal and external regions, where present" [https://orcid.org/0000-0002-6601-2165]	EFO:0000254	"" []	194423	\N	efo_slim,uberon_slim	EFO	0	EFO	anal region	anal pad specific anlage
EFO:0000255	\N	\N	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	64161	\N	\N	EFO	0	EFO	angioimmunoblastic T-cell lymphoma	angioimmunoblastic T-cell lymphoma
EFO:0000574	EFO:0000255	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	204603	\N	\N	EFO	1	EFO	lymphoma	angioimmunoblastic T-cell lymphoma
EFO:0002426	EFO:0000255	\N	"a neoplasm arising from mature T-cells or natural killer cells" []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	204604	\N	\N	EFO	1	EFO	neoplasm of mature T-cells or NK-cells	angioimmunoblastic T-cell lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	557656	\N	\N	EFO	2	EFO	lymphoid neoplasm	angioimmunoblastic T-cell lymphoma
EFO:0001642	EFO:0002426	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	557657	\N	\N	EFO	2	EFO	lymphoid neoplasm	angioimmunoblastic T-cell lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	1139956	\N	\N	EFO	3	EFO	cancer	angioimmunoblastic T-cell lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	1139957	\N	\N	EFO	3	EFO	hematological system disease	angioimmunoblastic T-cell lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	2023005	\N	\N	EFO	4	EFO	neoplasm	angioimmunoblastic T-cell lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	2023006	\N	\N	EFO	4	EFO	disease	angioimmunoblastic T-cell lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	3177019	\N	\N	EFO	5	EFO	disease	angioimmunoblastic T-cell lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	4387532	\N	\N	EFO	6	EFO	disposition	angioimmunoblastic T-cell lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	5180883	\N	\N	EFO	7	EFO	material property	angioimmunoblastic T-cell lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000255	"A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes.  It occurs in the middle aged and elderly, with an equal incidence in males and females.  The clinical course is typically aggressive.  (WHO, 2001)" []	5996548	\N	\N	EFO	8	EFO	experimental factor	angioimmunoblastic T-cell lymphoma
EFO:0000258	\N	\N	"" []	EFO:0000258	"" []	64162	\N	\N	EFO	0	EFO	antennal primordium2	antennal primordium2
EFO:0000795	EFO:0000258	\N	"Embryonic structure (body structure)" []	EFO:0000258	"" []	204605	\N	\N	EFO	1	EFO	animal developmental tissue	antennal primordium2
EFO:0000787	EFO:0000795	\N	"" []	EFO:0000258	"" []	557658	\N	\N	EFO	2	EFO	animal component	antennal primordium2
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000258	"" []	1139958	\N	\N	EFO	3	EFO	anatomy basic component	antennal primordium2
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000258	"" []	2023007	\N	\N	EFO	4	EFO	organism part	antennal primordium2
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000258	"" []	3177021	\N	\N	EFO	5	EFO	material entity	antennal primordium2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000258	"" []	4387534	\N	\N	EFO	6	EFO	experimental factor	antennal primordium2
EFO:0000260	\N	\N	"" []	EFO:0000260	"" []	64163	\N	\N	EFO	0	EFO	anterior endoderm anlage in statu nascendi	anterior endoderm anlage in statu nascendi
EFO:0000795	EFO:0000260	\N	"Embryonic structure (body structure)" []	EFO:0000260	"" []	204606	\N	\N	EFO	1	EFO	animal developmental tissue	anterior endoderm anlage in statu nascendi
EFO:0000787	EFO:0000795	\N	"" []	EFO:0000260	"" []	557659	\N	\N	EFO	2	EFO	animal component	anterior endoderm anlage in statu nascendi
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000260	"" []	1139959	\N	\N	EFO	3	EFO	anatomy basic component	anterior endoderm anlage in statu nascendi
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000260	"" []	2023008	\N	\N	EFO	4	EFO	organism part	anterior endoderm anlage in statu nascendi
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000260	"" []	3177022	\N	\N	EFO	5	EFO	material entity	anterior endoderm anlage in statu nascendi
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000260	"" []	4387535	\N	\N	EFO	6	EFO	experimental factor	anterior endoderm anlage in statu nascendi
EFO:0000261	\N	\N	"" []	EFO:0000261	"" []	64164	\N	\N	EFO	0	EFO	anterior endoderm primordium	anterior endoderm primordium
EFO:0000795	EFO:0000261	\N	"Embryonic structure (body structure)" []	EFO:0000261	"" []	204607	\N	\N	EFO	1	EFO	animal developmental tissue	anterior endoderm primordium
EFO:0000787	EFO:0000795	\N	"" []	EFO:0000261	"" []	557660	\N	\N	EFO	2	EFO	animal component	anterior endoderm primordium
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000261	"" []	1139960	\N	\N	EFO	3	EFO	anatomy basic component	anterior endoderm primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000261	"" []	2023009	\N	\N	EFO	4	EFO	organism part	anterior endoderm primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000261	"" []	3177023	\N	\N	EFO	5	EFO	material entity	anterior endoderm primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000261	"" []	4387536	\N	\N	EFO	6	EFO	experimental factor	anterior endoderm primordium
EFO:0000263	\N	\N	"" []	EFO:0000263	"" []	64165	\N	\N	EFO	0	EFO	anterior spiracle specific anlage	anterior spiracle specific anlage
EFO:0000795	EFO:0000263	\N	"Embryonic structure (body structure)" []	EFO:0000263	"" []	204608	\N	\N	EFO	1	EFO	animal developmental tissue	anterior spiracle specific anlage
EFO:0000787	EFO:0000795	\N	"" []	EFO:0000263	"" []	557661	\N	\N	EFO	2	EFO	animal component	anterior spiracle specific anlage
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000263	"" []	1139961	\N	\N	EFO	3	EFO	anatomy basic component	anterior spiracle specific anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000263	"" []	2023010	\N	\N	EFO	4	EFO	organism part	anterior spiracle specific anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000263	"" []	3177024	\N	\N	EFO	5	EFO	material entity	anterior spiracle specific anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000263	"" []	4387537	\N	\N	EFO	6	EFO	experimental factor	anterior spiracle specific anlage
EFO:0000264	\N	\N	"An antibody function (or antigen binding function) is an infection-fighting protein molecule in blood or secretory fluids that tags, neutralizes, and helps destroy pathogenic microorganisms such as bacteria, viruses and toxins." []	EFO:0000264	"An antibody function (or antigen binding function) is an infection-fighting protein molecule in blood or secretory fluids that tags, neutralizes, and helps destroy pathogenic microorganisms such as bacteria, viruses and toxins." []	64166	\N	\N	EFO	0	EFO	antibody	antibody
GO:0003674	\N	\N	"The actions of a single gene product or complex at the molecular level consisting of a single biochemical activity or multiple causally linked biochemical activities. A given gene product may exhibit one or more molecular functions." [GOC:go_curators]	EFO:0000264	"An antibody function (or antigen binding function) is an infection-fighting protein molecule in blood or secretory fluids that tags, neutralizes, and helps destroy pathogenic microorganisms such as bacteria, viruses and toxins." []	194424	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_yeast,gosubset_prok	EFO	0	EFO	molecular_function	antibody
EFO:0000266	\N	\N	"Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." []	EFO:0000266	"Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." []	64167	\N	\N	EFO	0	EFO	aortic stenosis	aortic stenosis
EFO:0005775	EFO:0000266	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:0000266	"Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." []	204609	\N	\N	EFO	1	EFO	aortic disease	aortic stenosis
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0000266	"Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." []	557662	\N	\N	EFO	2	EFO	vascular disease	aortic stenosis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000266	"Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." []	1139962	\N	\N	EFO	3	EFO	cardiovascular disease	aortic stenosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000266	"Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." []	2023011	\N	\N	EFO	4	EFO	disease	aortic stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000266	"Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." []	3177025	\N	\N	EFO	5	EFO	disposition	aortic stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000266	"Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." []	4387538	\N	\N	EFO	6	EFO	material property	aortic stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000266	"Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." []	5408509	\N	\N	EFO	7	EFO	experimental factor	aortic stenosis
EFO:0000269	\N	\N	"An instrument design which describes the design of the array." []	EFO:0000269	"An instrument design which describes the design of the array." []	64168	\N	\N	EFO	0	EFO	array design	array design
EFO:0001451	EFO:0000269	\N	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	EFO:0000269	"An instrument design which describes the design of the array." []	204610	\N	\N	EFO	1	EFO	instrument design	array design
IAO:0000030	EFO:0001451	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000269	"An instrument design which describes the design of the array." []	557663	\N	\N	EFO	2	EFO	information entity	array design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000269	"An instrument design which describes the design of the array." []	1139963	\N	\N	EFO	3	EFO	experimental factor	array design
EFO:0000270	\N	\N	"Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." []	EFO:0000270	"Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." []	64169	\N	\N	EFO	0	EFO	asthma	asthma
EFO:1002018	EFO:0000270	\N	"a respiratory system disease that has its manifestation in the bronchus" []	EFO:0000270	"Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." []	204611	\N	\N	EFO	1	EFO	bronchial disease	asthma
EFO:0000684	EFO:1002018	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000270	"Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." []	557664	\N	\N	EFO	2	EFO	respiratory system disease	asthma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000270	"Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." []	1139964	\N	\N	EFO	3	EFO	disease	asthma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000270	"Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." []	2023012	\N	\N	EFO	4	EFO	disposition	asthma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000270	"Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." []	3177026	\N	\N	EFO	5	EFO	material property	asthma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000270	"Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." []	4387539	\N	\N	EFO	6	EFO	experimental factor	asthma
EFO:0000272	\N	\N	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	64170	\N	\N	EFO	0	EFO	astrocytoma	astrocytoma
EFO:0005543	EFO:0000272	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	204612	\N	\N	EFO	1	EFO	glioma	astrocytoma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	557665	\N	\N	EFO	2	EFO	central nervous system cancer	astrocytoma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	557666	\N	\N	EFO	2	EFO	brain neoplasm	astrocytoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	1139965	\N	\N	EFO	3	EFO	cancer	astrocytoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	1139966	\N	\N	EFO	3	EFO	nervous system disease	astrocytoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	1139967	\N	\N	EFO	3	EFO	neoplasm	astrocytoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	1139968	\N	\N	EFO	3	EFO	brain disease	astrocytoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	2023013	\N	\N	EFO	4	EFO	neoplasm	astrocytoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	3177029	\N	\N	EFO	5	EFO	disease	astrocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	3177027	\N	\N	EFO	5	EFO	disease	astrocytoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	2023016	\N	\N	EFO	4	EFO	nervous system disease	astrocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	4132524	\N	\N	EFO	6	EFO	disposition	astrocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	5180884	\N	\N	EFO	7	EFO	material property	astrocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000272	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	5996549	\N	\N	EFO	8	EFO	experimental factor	astrocytoma
EFO:0000273	\N	\N	"The atmospheric conditions used to culture or grow an organism." []	EFO:0000273	"The atmospheric conditions used to culture or grow an organism." []	64171	\N	\N	EFO	0	EFO	atmosphere	atmosphere
EFO:0000469	EFO:0000273	\N	"The external elements and conditions which surround, influence, and affect the life and development of an organism or population." []	EFO:0000273	"The atmospheric conditions used to culture or grow an organism." []	204613	\N	\N	EFO	1	EFO	environmental factor	atmosphere
BFO:0000040	EFO:0000469	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000273	"The atmospheric conditions used to culture or grow an organism." []	557667	\N	\N	EFO	2	EFO	material entity	atmosphere
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000273	"The atmospheric conditions used to culture or grow an organism." []	1139969	\N	\N	EFO	3	EFO	experimental factor	atmosphere
EFO:0000274	\N	\N	"A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." []	EFO:0000274	"A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." []	64172	\N	\N	EFO	0	EFO	atopic eczema	atopic eczema
EFO:0003785	EFO:0000274	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0000274	"A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." []	204614	\N	\N	EFO	1	EFO	allergy	atopic eczema
EFO:1000636	EFO:0000274	\N	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	EFO:0000274	"A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." []	204615	\N	\N	EFO	1	EFO	inflammatory skin disease	atopic eczema
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000274	"A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." []	557668	\N	\N	EFO	2	EFO	immune system disease	atopic eczema
EFO:0000701	EFO:1000636	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0000274	"A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." []	557669	\N	\N	EFO	2	EFO	skin disease	atopic eczema
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000274	"A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." []	1139970	\N	\N	EFO	3	EFO	disease	atopic eczema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000274	"A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." []	1139971	\N	\N	EFO	3	EFO	disease	atopic eczema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000274	"A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." []	2023017	\N	\N	EFO	4	EFO	disposition	atopic eczema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000274	"A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." []	3177030	\N	\N	EFO	5	EFO	material property	atopic eczema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000274	"A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." []	4387541	\N	\N	EFO	6	EFO	experimental factor	atopic eczema
EFO:0000275	\N	\N	"Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation." []	EFO:0000275	"Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation." []	64173	\N	\N	EFO	0	EFO	atrial fibrillation	atrial fibrillation
EFO:0004269	EFO:0000275	\N	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	EFO:0000275	"Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation." []	204616	\N	\N	EFO	1	EFO	cardiac arrhythmia	atrial fibrillation
EFO:0003777	EFO:0004269	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0000275	"Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation." []	557670	\N	\N	EFO	2	EFO	heart disease	atrial fibrillation
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000275	"Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation." []	1139972	\N	\N	EFO	3	EFO	cardiovascular disease	atrial fibrillation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000275	"Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation." []	2023018	\N	\N	EFO	4	EFO	disease	atrial fibrillation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000275	"Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation." []	3177031	\N	\N	EFO	5	EFO	disposition	atrial fibrillation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000275	"Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation." []	4387542	\N	\N	EFO	6	EFO	material property	atrial fibrillation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000275	"Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation." []	5408511	\N	\N	EFO	7	EFO	experimental factor	atrial fibrillation
EFO:0000278	\N	\N	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	EFO:0000278	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	64174	\N	\N	EFO	0	EFO	pancreatitis	pancreatitis
EFO:0000405	EFO:0000278	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000278	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	204617	\N	\N	EFO	1	EFO	digestive system disease	pancreatitis
EFO:0001379	EFO:0000278	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000278	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	204618	\N	\N	EFO	1	EFO	endocrine system disease	pancreatitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000278	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	557671	\N	\N	EFO	2	EFO	disease	pancreatitis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000278	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	557672	\N	\N	EFO	2	EFO	disease	pancreatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000278	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	1139973	\N	\N	EFO	3	EFO	disposition	pancreatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000278	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	2023019	\N	\N	EFO	4	EFO	material property	pancreatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000278	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	3177032	\N	\N	EFO	5	EFO	experimental factor	pancreatitis
EFO:0000279	\N	\N	"A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen." []	EFO:0000279	"A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen." []	64175	\N	\N	EFO	0	EFO	azoospermia	azoospermia
EFO:0000512	EFO:0000279	\N	"any diease of the reproductive system" []	EFO:0000279	"A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen." []	204619	\N	\N	EFO	1	EFO	reproductive system disease	azoospermia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000279	"A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen." []	557673	\N	\N	EFO	2	EFO	disease	azoospermia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000279	"A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen." []	1139974	\N	\N	EFO	3	EFO	disposition	azoospermia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000279	"A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen." []	2023020	\N	\N	EFO	4	EFO	material property	azoospermia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000279	"A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen." []	3177033	\N	\N	EFO	5	EFO	experimental factor	azoospermia
EFO:0000280	\N	\N	"A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus." []	EFO:0000280	"A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus." []	64176	\N	\N	EFO	0	EFO	Barrett's esophagus	Barrett's esophagus
EFO:0000405	EFO:0000280	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000280	"A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus." []	204620	\N	\N	EFO	1	EFO	digestive system disease	Barrett's esophagus
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000280	"A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus." []	557674	\N	\N	EFO	2	EFO	disease	Barrett's esophagus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000280	"A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus." []	1139975	\N	\N	EFO	3	EFO	disposition	Barrett's esophagus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000280	"A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus." []	2023021	\N	\N	EFO	4	EFO	material property	Barrett's esophagus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000280	"A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus." []	3177034	\N	\N	EFO	5	EFO	experimental factor	Barrett's esophagus
EFO:0000281	\N	\N	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	EFO:0000281	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	64177	\N	\N	EFO	0	EFO	basal-like carcinoma	basal-like carcinoma
EFO:0000186	EFO:0000281	\N	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	EFO:0000281	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	204621	\N	\N	EFO	1	EFO	invasive ductal carcinoma	basal-like carcinoma
EFO:0000305	EFO:0000186	\N	"Tumors or cancer of the human BREAST." []	EFO:0000281	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	557675	\N	\N	EFO	2	EFO	breast carcinoma	basal-like carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000281	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	1139976	\N	\N	EFO	3	EFO	carcinoma	basal-like carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000281	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	2023022	\N	\N	EFO	4	EFO	cancer	basal-like carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000281	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	2023023	\N	\N	EFO	4	EFO	epithelial neoplasm	basal-like carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000281	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	3177035	\N	\N	EFO	5	EFO	neoplasm	basal-like carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000281	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	3177036	\N	\N	EFO	5	EFO	neoplasm	basal-like carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000281	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	4387543	\N	\N	EFO	6	EFO	disease	basal-like carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000281	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	5408512	\N	\N	EFO	7	EFO	disposition	basal-like carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000281	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	6147397	\N	\N	EFO	8	EFO	material property	basal-like carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000281	"basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins." []	6631850	\N	\N	EFO	9	EFO	experimental factor	basal-like carcinoma
EFO:0000283	\N	\N	"A treatment applied to a sample where some behaviour is expected as a result e.g. avoidance" []	EFO:0000283	"A treatment applied to a sample where some behaviour is expected as a result e.g. avoidance" []	64178	\N	\N	EFO	0	EFO	behavioral stimulus	behavioral stimulus
EFO:0002694	EFO:0000283	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000283	"A treatment applied to a sample where some behaviour is expected as a result e.g. avoidance" []	204622	\N	\N	EFO	1	EFO	experimental process	behavioral stimulus
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000283	"A treatment applied to a sample where some behaviour is expected as a result e.g. avoidance" []	557676	\N	\N	EFO	2	EFO	planned process	behavioral stimulus
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000283	"A treatment applied to a sample where some behaviour is expected as a result e.g. avoidance" []	1139977	\N	\N	EFO	3	EFO	process	behavioral stimulus
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000283	"A treatment applied to a sample where some behaviour is expected as a result e.g. avoidance" []	2023024	\N	\N	EFO	4	EFO	experimental factor	behavioral stimulus
EFO:0000284	\N	\N	"Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." []	EFO:0000284	"Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." []	64179	\N	\N	EFO	0	EFO	benign prostatic hyperplasia	benign prostatic hyperplasia
EFO:0000512	EFO:0000284	\N	"any diease of the reproductive system" []	EFO:0000284	"Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." []	204623	\N	\N	EFO	1	EFO	reproductive system disease	benign prostatic hyperplasia
EFO:0000536	EFO:0000284	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:0000284	"Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." []	204624	\N	\N	EFO	1	EFO	hyperplasia	benign prostatic hyperplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000284	"Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." []	557677	\N	\N	EFO	2	EFO	disease	benign prostatic hyperplasia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000284	"Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." []	557678	\N	\N	EFO	2	EFO	disease	benign prostatic hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000284	"Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." []	1139978	\N	\N	EFO	3	EFO	disposition	benign prostatic hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000284	"Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." []	2023025	\N	\N	EFO	4	EFO	material property	benign prostatic hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000284	"Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." []	3177037	\N	\N	EFO	5	EFO	experimental factor	benign prostatic hyperplasia
EFO:0000287	\N	\N	"A biopsy number is an information entity about the numerical label given to a partciular biopsy obtained." []	EFO:0000287	"A biopsy number is an information entity about the numerical label given to a partciular biopsy obtained." []	64180	\N	\N	EFO	0	EFO	biopsy number	biopsy number
EFO:0001444	EFO:0000287	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000287	"A biopsy number is an information entity about the numerical label given to a partciular biopsy obtained." []	204625	\N	\N	EFO	1	EFO	measurement	biopsy number
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000287	"A biopsy number is an information entity about the numerical label given to a partciular biopsy obtained." []	557679	\N	\N	EFO	2	EFO	information entity	biopsy number
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000287	"A biopsy number is an information entity about the numerical label given to a partciular biopsy obtained." []	1139979	\N	\N	EFO	3	EFO	experimental factor	biopsy number
EFO:0000288	\N	\N	"The physical site from which tissue has been removed from a living organism. Does not imply any statistical significance, i.e. that it is a statistically representative sample of the whole." []	EFO:0000288	"The physical site from which tissue has been removed from a living organism. Does not imply any statistical significance, i.e. that it is a statistically representative sample of the whole." []	64181	\N	\N	EFO	0	EFO	biopsy site	biopsy site
BFO:0000029	EFO:0000288	\N	"A site is an entity which consists of a characteristic spatial shape in relation to some arrangement of other material entities." []	EFO:0000288	"The physical site from which tissue has been removed from a living organism. Does not imply any statistical significance, i.e. that it is a statistically representative sample of the whole." []	204626	\N	\N	EFO	1	EFO	site	biopsy site
EFO:0000001	BFO:0000029	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000288	"The physical site from which tissue has been removed from a living organism. Does not imply any statistical significance, i.e. that it is a statistically representative sample of the whole." []	557680	\N	\N	EFO	2	EFO	experimental factor	biopsy site
EFO:0000289	\N	\N	"A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence." []	EFO:0000289	"A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence." []	64182	\N	\N	EFO	0	EFO	bipolar disorder	bipolar disorder
EFO:0004247	EFO:0000289	\N	"Those disorders that have a disturbance in mood as their predominant feature." []	EFO:0000289	"A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence." []	204627	\N	\N	EFO	1	EFO	mood disorder	bipolar disorder
EFO:0000677	EFO:0004247	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0000289	"A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence." []	557681	\N	\N	EFO	2	EFO	mental or behavioural disorder	bipolar disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0000289	"A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence." []	1139980	\N	\N	EFO	3	EFO	brain disease	bipolar disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000289	"A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence." []	2023026	\N	\N	EFO	4	EFO	nervous system disease	bipolar disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000289	"A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence." []	3177038	\N	\N	EFO	5	EFO	disease	bipolar disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000289	"A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence." []	4387544	\N	\N	EFO	6	EFO	disposition	bipolar disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000289	"A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence." []	5408513	\N	\N	EFO	7	EFO	material property	bipolar disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000289	"A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence." []	6147398	\N	\N	EFO	8	EFO	experimental factor	bipolar disorder
EFO:0000292	\N	\N	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	EFO:0000292	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	64183	\N	\N	EFO	0	EFO	bladder carcinoma	bladder carcinoma
EFO:0000313	EFO:0000292	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000292	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	204628	\N	\N	EFO	1	EFO	carcinoma	bladder carcinoma
EFO:1000018	EFO:0000292	\N	"A disorder affecting the urinary bladder" []	EFO:0000292	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	204629	\N	\N	EFO	1	EFO	bladder disease	bladder carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000292	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	557682	\N	\N	EFO	2	EFO	cancer	bladder carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000292	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	557683	\N	\N	EFO	2	EFO	epithelial neoplasm	bladder carcinoma
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000292	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	557684	\N	\N	EFO	2	EFO	disease	bladder carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000292	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	1139981	\N	\N	EFO	3	EFO	neoplasm	bladder carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000292	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	1139982	\N	\N	EFO	3	EFO	neoplasm	bladder carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000292	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	3177039	\N	\N	EFO	5	EFO	disposition	bladder carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000292	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	2023027	\N	\N	EFO	4	EFO	disease	bladder carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000292	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	4066661	\N	\N	EFO	6	EFO	material property	bladder carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000292	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	5059297	\N	\N	EFO	7	EFO	experimental factor	bladder carcinoma
EFO:0000294	\N	\N	"An abnormal growth, i.e. tumor, located in the bladder." []	EFO:0000294	"An abnormal growth, i.e. tumor, located in the bladder." []	64184	\N	\N	EFO	0	EFO	bladder tumor	bladder tumor
EFO:0000616	EFO:0000294	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000294	"An abnormal growth, i.e. tumor, located in the bladder." []	204630	\N	\N	EFO	1	EFO	neoplasm	bladder tumor
EFO:1000018	EFO:0000294	\N	"A disorder affecting the urinary bladder" []	EFO:0000294	"An abnormal growth, i.e. tumor, located in the bladder." []	204631	\N	\N	EFO	1	EFO	bladder disease	bladder tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000294	"An abnormal growth, i.e. tumor, located in the bladder." []	557685	\N	\N	EFO	2	EFO	disease	bladder tumor
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000294	"An abnormal growth, i.e. tumor, located in the bladder." []	557686	\N	\N	EFO	2	EFO	disease	bladder tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000294	"An abnormal growth, i.e. tumor, located in the bladder." []	1139984	\N	\N	EFO	3	EFO	disposition	bladder tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000294	"An abnormal growth, i.e. tumor, located in the bladder." []	2023029	\N	\N	EFO	4	EFO	material property	bladder tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000294	"An abnormal growth, i.e. tumor, located in the bladder." []	3177041	\N	\N	EFO	5	EFO	experimental factor	bladder tumor
EFO:0000304	\N	\N	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	64185	\N	\N	EFO	0	EFO	breast adenocarcinoma	breast adenocarcinoma
EFO:0000228	EFO:0000304	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	204632	\N	\N	EFO	1	EFO	adenocarcinoma	breast adenocarcinoma
EFO:0000305	EFO:0000304	\N	"Tumors or cancer of the human BREAST." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	204633	\N	\N	EFO	1	EFO	breast carcinoma	breast adenocarcinoma
EFO:0003869	EFO:0000304	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	204634	\N	\N	EFO	1	EFO	breast neoplasm	breast adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	557687	\N	\N	EFO	2	EFO	carcinoma	breast adenocarcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	557688	\N	\N	EFO	2	EFO	carcinoma	breast adenocarcinoma
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	557689	\N	\N	EFO	2	EFO	neoplasm	breast adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	1139985	\N	\N	EFO	3	EFO	cancer	breast adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	1139986	\N	\N	EFO	3	EFO	epithelial neoplasm	breast adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	3177042	\N	\N	EFO	5	EFO	disease	breast adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	2023030	\N	\N	EFO	4	EFO	neoplasm	breast adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	2023031	\N	\N	EFO	4	EFO	neoplasm	breast adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	4066662	\N	\N	EFO	6	EFO	disposition	breast adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	5059298	\N	\N	EFO	7	EFO	material property	breast adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000304	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	5876512	\N	\N	EFO	8	EFO	experimental factor	breast adenocarcinoma
EFO:0000305	\N	\N	"Tumors or cancer of the human BREAST." []	EFO:0000305	"Tumors or cancer of the human BREAST." []	64186	\N	\N	EFO	0	EFO	breast carcinoma	breast carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000305	"Tumors or cancer of the human BREAST." []	204635	\N	\N	EFO	1	EFO	carcinoma	breast carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000305	"Tumors or cancer of the human BREAST." []	557690	\N	\N	EFO	2	EFO	cancer	breast carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000305	"Tumors or cancer of the human BREAST." []	557691	\N	\N	EFO	2	EFO	epithelial neoplasm	breast carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000305	"Tumors or cancer of the human BREAST." []	1139988	\N	\N	EFO	3	EFO	neoplasm	breast carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000305	"Tumors or cancer of the human BREAST." []	1139989	\N	\N	EFO	3	EFO	neoplasm	breast carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000305	"Tumors or cancer of the human BREAST." []	2023033	\N	\N	EFO	4	EFO	disease	breast carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000305	"Tumors or cancer of the human BREAST." []	3177044	\N	\N	EFO	5	EFO	disposition	breast carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000305	"Tumors or cancer of the human BREAST." []	4387546	\N	\N	EFO	6	EFO	material property	breast carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000305	"Tumors or cancer of the human BREAST." []	5408514	\N	\N	EFO	7	EFO	experimental factor	breast carcinoma
EFO:0000306	\N	\N	"Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis." []	EFO:0000306	"Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis." []	64187	\N	\N	EFO	0	EFO	breast tumor luminal	breast tumor luminal
EFO:0000305	EFO:0000306	\N	"Tumors or cancer of the human BREAST." []	EFO:0000306	"Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis." []	204636	\N	\N	EFO	1	EFO	breast carcinoma	breast tumor luminal
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000306	"Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis." []	557692	\N	\N	EFO	2	EFO	carcinoma	breast tumor luminal
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000306	"Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis." []	1139990	\N	\N	EFO	3	EFO	cancer	breast tumor luminal
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000306	"Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis." []	1139991	\N	\N	EFO	3	EFO	epithelial neoplasm	breast tumor luminal
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000306	"Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis." []	2023034	\N	\N	EFO	4	EFO	neoplasm	breast tumor luminal
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000306	"Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis." []	2023035	\N	\N	EFO	4	EFO	neoplasm	breast tumor luminal
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000306	"Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis." []	3177045	\N	\N	EFO	5	EFO	disease	breast tumor luminal
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000306	"Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis." []	4387547	\N	\N	EFO	6	EFO	disposition	breast tumor luminal
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000306	"Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis." []	5408515	\N	\N	EFO	7	EFO	material property	breast tumor luminal
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000306	"Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis." []	6147399	\N	\N	EFO	8	EFO	experimental factor	breast tumor luminal
EFO:0000308	\N	\N	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	64188	\N	\N	EFO	0	EFO	bronchoalveolar adenocarcinoma	bronchoalveolar adenocarcinoma
EFO:0001071	EFO:0000308	\N	"Tumors or cancer of the LUNG." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	204637	\N	\N	EFO	1	EFO	lung carcinoma	bronchoalveolar adenocarcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	557693	\N	\N	EFO	2	EFO	carcinoma	bronchoalveolar adenocarcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	557694	\N	\N	EFO	2	EFO	lung disease	bronchoalveolar adenocarcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	557695	\N	\N	EFO	2	EFO	respiratory system neoplasm	bronchoalveolar adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	1139992	\N	\N	EFO	3	EFO	cancer	bronchoalveolar adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	1139993	\N	\N	EFO	3	EFO	epithelial neoplasm	bronchoalveolar adenocarcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	1139994	\N	\N	EFO	3	EFO	respiratory system disease	bronchoalveolar adenocarcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	1139995	\N	\N	EFO	3	EFO	neoplasm	bronchoalveolar adenocarcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	1139996	\N	\N	EFO	3	EFO	respiratory system disease	bronchoalveolar adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	2023036	\N	\N	EFO	4	EFO	neoplasm	bronchoalveolar adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	2023037	\N	\N	EFO	4	EFO	neoplasm	bronchoalveolar adenocarcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	2023038	\N	\N	EFO	4	EFO	disease	bronchoalveolar adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	3177046	\N	\N	EFO	5	EFO	disease	bronchoalveolar adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	4132525	\N	\N	EFO	6	EFO	disposition	bronchoalveolar adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	5180885	\N	\N	EFO	7	EFO	material property	bronchoalveolar adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000308	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	5996550	\N	\N	EFO	8	EFO	experimental factor	bronchoalveolar adenocarcinoma
EFO:0000309	\N	\N	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	64189	\N	\N	EFO	0	EFO	Burkitts lymphoma	Burkitts lymphoma
EFO:0000096	EFO:0000309	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	204638	\N	\N	EFO	1	EFO	neoplasm of mature B-cells	Burkitts lymphoma
EFO:0000574	EFO:0000309	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	204639	\N	\N	EFO	1	EFO	lymphoma	Burkitts lymphoma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	557696	\N	\N	EFO	2	EFO	lymphoid neoplasm	Burkitts lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	557697	\N	\N	EFO	2	EFO	lymphoid neoplasm	Burkitts lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	1139997	\N	\N	EFO	3	EFO	cancer	Burkitts lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	1139998	\N	\N	EFO	3	EFO	hematological system disease	Burkitts lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	2023040	\N	\N	EFO	4	EFO	neoplasm	Burkitts lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	2023041	\N	\N	EFO	4	EFO	disease	Burkitts lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	3177048	\N	\N	EFO	5	EFO	disease	Burkitts lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	4387549	\N	\N	EFO	6	EFO	disposition	Burkitts lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	5180886	\N	\N	EFO	7	EFO	material property	Burkitts lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000309	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	5996551	\N	\N	EFO	8	EFO	experimental factor	Burkitts lymphoma
EFO:0000311	\N	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000311	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	64190	\N	\N	EFO	0	EFO	cancer	cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000311	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	204640	\N	\N	EFO	1	EFO	neoplasm	cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000311	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	557698	\N	\N	EFO	2	EFO	disease	cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000311	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	1139999	\N	\N	EFO	3	EFO	disposition	cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000311	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	2023042	\N	\N	EFO	4	EFO	material property	cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000311	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	3177050	\N	\N	EFO	5	EFO	experimental factor	cancer
EFO:0000312	\N	\N	"Location of cancer, primary or metastatic" []	EFO:0000312	"Location of cancer, primary or metastatic" []	64191	\N	\N	EFO	0	EFO	cancer site	cancer site
BFO:0000029	EFO:0000312	\N	"A site is an entity which consists of a characteristic spatial shape in relation to some arrangement of other material entities." []	EFO:0000312	"Location of cancer, primary or metastatic" []	204641	\N	\N	EFO	1	EFO	site	cancer site
EFO:0000001	BFO:0000029	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000312	"Location of cancer, primary or metastatic" []	557699	\N	\N	EFO	2	EFO	experimental factor	cancer site
EFO:0000313	\N	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000313	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	64192	\N	\N	EFO	0	EFO	carcinoma	carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000313	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	204642	\N	\N	EFO	1	EFO	cancer	carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000313	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	204643	\N	\N	EFO	1	EFO	epithelial neoplasm	carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000313	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	557700	\N	\N	EFO	2	EFO	neoplasm	carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000313	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	557701	\N	\N	EFO	2	EFO	neoplasm	carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000313	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	1140000	\N	\N	EFO	3	EFO	disease	carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000313	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	2023043	\N	\N	EFO	4	EFO	disposition	carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000313	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	3177051	\N	\N	EFO	5	EFO	material property	carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000313	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	4387551	\N	\N	EFO	6	EFO	experimental factor	carcinoma
EFO:0000315	\N	\N	"" []	EFO:0000315	"" []	64193	\N	\N	EFO	0	EFO	cardiac mesoderm primordium	cardiac mesoderm primordium
UBERON:0000926	\N	\N	"The middle germ layer of the embryo, between the endoderm and ectoderm." [Wikipedia:Mesoderm]	EFO:0000315	"" []	194425	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	mesoderm	cardiac mesoderm primordium
EFO:0000318	\N	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:0000318	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	64194	\N	\N	EFO	0	EFO	cardiomyopathy	cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0000318	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	204644	\N	\N	EFO	1	EFO	heart disease	cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000318	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	557702	\N	\N	EFO	2	EFO	cardiovascular disease	cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000318	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	1140001	\N	\N	EFO	3	EFO	disease	cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000318	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	2023044	\N	\N	EFO	4	EFO	disposition	cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000318	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	3177052	\N	\N	EFO	5	EFO	material property	cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000318	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	4387552	\N	\N	EFO	6	EFO	experimental factor	cardiomyopathy
EFO:0000319	\N	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000319	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	64195	\N	\N	EFO	0	EFO	cardiovascular disease	cardiovascular disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000319	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	204645	\N	\N	EFO	1	EFO	disease	cardiovascular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000319	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	557703	\N	\N	EFO	2	EFO	disposition	cardiovascular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000319	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	1140002	\N	\N	EFO	3	EFO	material property	cardiovascular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000319	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	2023045	\N	\N	EFO	4	EFO	experimental factor	cardiovascular disease
EFO:0000322	\N	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0000322	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	64196	\N	\N	EFO	0	EFO	cell line	cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000322	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	204646	\N	\N	EFO	1	EFO	material entity	cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000322	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	557704	\N	\N	EFO	2	EFO	experimental factor	cell line
EFO:0000323	\N	\N	"An attribute of a cell e.g. CD8+" []	EFO:0000323	"An attribute of a cell e.g. CD8+" []	64197	\N	\N	EFO	0	EFO	cell property	cell property
BFO:0000019	EFO:0000323	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0000323	"An attribute of a cell e.g. CD8+" []	204647	\N	\N	EFO	1	EFO	quality	cell property
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000323	"An attribute of a cell e.g. CD8+" []	557705	\N	\N	EFO	2	EFO	material property	cell property
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000323	"An attribute of a cell e.g. CD8+" []	1140003	\N	\N	EFO	3	EFO	experimental factor	cell property
EFO:0000324	\N	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0000324	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	64198	\N	\N	EFO	0	EFO	cell type	cell type
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000324	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	204648	\N	\N	EFO	1	EFO	material entity	cell type
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000324	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	557706	\N	\N	EFO	2	EFO	experimental factor	cell type
EFO:0000325	\N	\N	"The act of alteration or modification of a cell e.g. RNAi" []	EFO:0000325	"The act of alteration or modification of a cell e.g. RNAi" []	64199	\N	\N	EFO	0	EFO	cellular modification	cellular modification
EFO:0002694	EFO:0000325	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000325	"The act of alteration or modification of a cell e.g. RNAi" []	204649	\N	\N	EFO	1	EFO	experimental process	cellular modification
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000325	"The act of alteration or modification of a cell e.g. RNAi" []	557707	\N	\N	EFO	2	EFO	planned process	cellular modification
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000325	"The act of alteration or modification of a cell e.g. RNAi" []	1140004	\N	\N	EFO	3	EFO	process	cellular modification
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000325	"The act of alteration or modification of a cell e.g. RNAi" []	2023046	\N	\N	EFO	4	EFO	experimental factor	cellular modification
EFO:0000326	\N	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0000326	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	64200	\N	\N	EFO	0	EFO	central nervous system cancer	central nervous system cancer
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000326	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	204650	\N	\N	EFO	1	EFO	cancer	central nervous system cancer
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000326	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	204651	\N	\N	EFO	1	EFO	nervous system disease	central nervous system cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000326	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	557708	\N	\N	EFO	2	EFO	neoplasm	central nervous system cancer
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000326	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	557709	\N	\N	EFO	2	EFO	disease	central nervous system cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000326	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	1140005	\N	\N	EFO	3	EFO	disease	central nervous system cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000326	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	2023047	\N	\N	EFO	4	EFO	disposition	central nervous system cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000326	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	2999228	\N	\N	EFO	5	EFO	material property	central nervous system cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000326	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	4132526	\N	\N	EFO	6	EFO	experimental factor	central nervous system cancer
EFO:0000330	\N	\N	"Acute myeloid leukemia occurring in childhood." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	64201	\N	\N	EFO	0	EFO	childhood acute myeloid leukemia	childhood acute myeloid leukemia
EFO:0000222	EFO:0000330	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	204652	\N	\N	EFO	1	EFO	acute myeloid leukemia	childhood acute myeloid leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	557710	\N	\N	EFO	2	EFO	myeloid neoplasm	childhood acute myeloid leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	557711	\N	\N	EFO	2	EFO	Acute Leukemia	childhood acute myeloid leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	1140007	\N	\N	EFO	3	EFO	lymphoid neoplasm	childhood acute myeloid leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	1140008	\N	\N	EFO	3	EFO	leukemia	childhood acute myeloid leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	3177056	\N	\N	EFO	5	EFO	cancer	childhood acute myeloid leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	3177057	\N	\N	EFO	5	EFO	hematological system disease	childhood acute myeloid leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	2023051	\N	\N	EFO	4	EFO	lymphoid neoplasm	childhood acute myeloid leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	4132527	\N	\N	EFO	6	EFO	neoplasm	childhood acute myeloid leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	4132528	\N	\N	EFO	6	EFO	disease	childhood acute myeloid leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	5180887	\N	\N	EFO	7	EFO	disease	childhood acute myeloid leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	5996552	\N	\N	EFO	8	EFO	disposition	childhood acute myeloid leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	6469815	\N	\N	EFO	9	EFO	material property	childhood acute myeloid leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000330	"Acute myeloid leukemia occurring in childhood." []	6848216	\N	\N	EFO	10	EFO	experimental factor	childhood acute myeloid leukemia
EFO:0000331	\N	\N	"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)" []	EFO:0000331	"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)" []	64202	\N	\N	EFO	0	EFO	chondroblastoma	chondroblastoma
EFO:0003820	EFO:0000331	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:0000331	"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)" []	204653	\N	\N	EFO	1	EFO	bone neoplasm	chondroblastoma
EFO:0004260	EFO:0000331	\N	"Diseases of BONES." []	EFO:0000331	"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)" []	204654	\N	\N	EFO	1	EFO	bone disease	chondroblastoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000331	"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)" []	557712	\N	\N	EFO	2	EFO	neoplasm	chondroblastoma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0000331	"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)" []	557713	\N	\N	EFO	2	EFO	skeletal system disease	chondroblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000331	"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)" []	1140009	\N	\N	EFO	3	EFO	disease	chondroblastoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000331	"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)" []	1140010	\N	\N	EFO	3	EFO	disease	chondroblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000331	"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)" []	2023052	\N	\N	EFO	4	EFO	disposition	chondroblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000331	"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)" []	3177058	\N	\N	EFO	5	EFO	material property	chondroblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000331	"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)" []	4387555	\N	\N	EFO	6	EFO	experimental factor	chondroblastoma
EFO:0000332	\N	\N	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	EFO:0000332	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	64203	\N	\N	EFO	0	EFO	chondromyxoid fibroma	chondromyxoid fibroma
EFO:0003820	EFO:0000332	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:0000332	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	204655	\N	\N	EFO	1	EFO	bone neoplasm	chondromyxoid fibroma
EFO:0004260	EFO:0000332	\N	"Diseases of BONES." []	EFO:0000332	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	204656	\N	\N	EFO	1	EFO	bone disease	chondromyxoid fibroma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000332	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	557714	\N	\N	EFO	2	EFO	neoplasm	chondromyxoid fibroma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0000332	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	557715	\N	\N	EFO	2	EFO	skeletal system disease	chondromyxoid fibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000332	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	1140011	\N	\N	EFO	3	EFO	disease	chondromyxoid fibroma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000332	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	1140012	\N	\N	EFO	3	EFO	disease	chondromyxoid fibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000332	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	2023053	\N	\N	EFO	4	EFO	disposition	chondromyxoid fibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000332	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	3177059	\N	\N	EFO	5	EFO	material property	chondromyxoid fibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000332	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	4387556	\N	\N	EFO	6	EFO	experimental factor	chondromyxoid fibroma
EFO:0000333	\N	\N	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	64204	\N	\N	EFO	0	EFO	chondrosarcoma	chondrosarcoma
EFO:0000691	EFO:0000333	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	204657	\N	\N	EFO	1	EFO	sarcoma	chondrosarcoma
EFO:0003820	EFO:0000333	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	204658	\N	\N	EFO	1	EFO	bone neoplasm	chondrosarcoma
EFO:0004260	EFO:0000333	\N	"Diseases of BONES." []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	204659	\N	\N	EFO	1	EFO	bone disease	chondrosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	557716	\N	\N	EFO	2	EFO	cancer	chondrosarcoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	557717	\N	\N	EFO	2	EFO	neoplasm	chondrosarcoma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	557718	\N	\N	EFO	2	EFO	skeletal system disease	chondrosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	1140013	\N	\N	EFO	3	EFO	neoplasm	chondrosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	2023054	\N	\N	EFO	4	EFO	disease	chondrosarcoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	1140015	\N	\N	EFO	3	EFO	disease	chondrosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	2999229	\N	\N	EFO	5	EFO	disposition	chondrosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	4132529	\N	\N	EFO	6	EFO	material property	chondrosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000333	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	5180889	\N	\N	EFO	7	EFO	experimental factor	chondrosarcoma
EFO:0000335	\N	\N	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	64205	\N	\N	EFO	0	EFO	chromophobe renal cell carcinoma	chromophobe renal cell carcinoma
EFO:0000681	EFO:0000335	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	204660	\N	\N	EFO	1	EFO	renal cell carcinoma	chromophobe renal cell carcinoma
EFO:0002890	EFO:0000681	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	557719	\N	\N	EFO	2	EFO	renal carcinoma	chromophobe renal cell carcinoma
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	1140016	\N	\N	EFO	3	EFO	carcinoma	chromophobe renal cell carcinoma
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	1140017	\N	\N	EFO	3	EFO	kidney neoplasm	chromophobe renal cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	2023056	\N	\N	EFO	4	EFO	cancer	chromophobe renal cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	2023057	\N	\N	EFO	4	EFO	epithelial neoplasm	chromophobe renal cell carcinoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	2023058	\N	\N	EFO	4	EFO	kidney disease	chromophobe renal cell carcinoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	2023059	\N	\N	EFO	4	EFO	urogenital neoplasm	chromophobe renal cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	3177061	\N	\N	EFO	5	EFO	neoplasm	chromophobe renal cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	3177062	\N	\N	EFO	5	EFO	neoplasm	chromophobe renal cell carcinoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	3177063	\N	\N	EFO	5	EFO	disease	chromophobe renal cell carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	3177064	\N	\N	EFO	5	EFO	neoplasm	chromophobe renal cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	4387558	\N	\N	EFO	6	EFO	disease	chromophobe renal cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	5408519	\N	\N	EFO	7	EFO	disposition	chromophobe renal cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	5996554	\N	\N	EFO	8	EFO	material property	chromophobe renal cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000335	"Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery." []	6550355	\N	\N	EFO	9	EFO	experimental factor	chromophobe renal cell carcinoma
EFO:0000336	\N	\N	"An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." []	EFO:0000336	"An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." []	64206	\N	\N	EFO	0	EFO	chromosomal aberration	chromosomal aberration
EFO:0000510	EFO:0000336	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0000336	"An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." []	204661	\N	\N	EFO	1	EFO	genetic modification	chromosomal aberration
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000336	"An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." []	557720	\N	\N	EFO	2	EFO	experimental process	chromosomal aberration
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000336	"An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." []	1140018	\N	\N	EFO	3	EFO	planned process	chromosomal aberration
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000336	"An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." []	2023060	\N	\N	EFO	4	EFO	process	chromosomal aberration
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000336	"An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." []	3177065	\N	\N	EFO	5	EFO	experimental factor	chromosomal aberration
EFO:0000337	\N	\N	"A stomach disease that is an inflammation of the lining of the stomach." []	EFO:0000337	"A stomach disease that is an inflammation of the lining of the stomach." []	64207	\N	\N	EFO	0	EFO	chronic gastritis	chronic gastritis
EFO:0000217	EFO:0000337	\N	"Inflammation of the stomach." []	EFO:0000337	"A stomach disease that is an inflammation of the lining of the stomach." []	204662	\N	\N	EFO	1	EFO	gastritis	chronic gastritis
EFO:0000405	EFO:0000217	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000337	"A stomach disease that is an inflammation of the lining of the stomach." []	557721	\N	\N	EFO	2	EFO	digestive system disease	chronic gastritis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000337	"A stomach disease that is an inflammation of the lining of the stomach." []	1140019	\N	\N	EFO	3	EFO	disease	chronic gastritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000337	"A stomach disease that is an inflammation of the lining of the stomach." []	2023061	\N	\N	EFO	4	EFO	disposition	chronic gastritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000337	"A stomach disease that is an inflammation of the lining of the stomach." []	3177066	\N	\N	EFO	5	EFO	material property	chronic gastritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000337	"A stomach disease that is an inflammation of the lining of the stomach." []	4387560	\N	\N	EFO	6	EFO	experimental factor	chronic gastritis
EFO:0000339	\N	\N	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	64208	\N	\N	EFO	0	EFO	chronic myelogenous leukemia	chronic myelogenous leukemia
EFO:0000565	EFO:0000339	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	204663	\N	\N	EFO	1	EFO	leukemia	chronic myelogenous leukemia
EFO:0002428	EFO:0000339	\N	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	204664	\N	\N	EFO	1	EFO	chronic myeloproliferative disorder	chronic myelogenous leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	557722	\N	\N	EFO	2	EFO	lymphoid neoplasm	chronic myelogenous leukemia
EFO:0002427	EFO:0002428	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	557723	\N	\N	EFO	2	EFO	myeloid neoplasm	chronic myelogenous leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	2023064	\N	\N	EFO	4	EFO	cancer	chronic myelogenous leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	2023065	\N	\N	EFO	4	EFO	hematological system disease	chronic myelogenous leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	1140022	\N	\N	EFO	3	EFO	lymphoid neoplasm	chronic myelogenous leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	2999230	\N	\N	EFO	5	EFO	neoplasm	chronic myelogenous leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	2999231	\N	\N	EFO	5	EFO	disease	chronic myelogenous leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	4132530	\N	\N	EFO	6	EFO	disease	chronic myelogenous leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	5180890	\N	\N	EFO	7	EFO	disposition	chronic myelogenous leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	5876513	\N	\N	EFO	8	EFO	material property	chronic myelogenous leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000339	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	6469816	\N	\N	EFO	9	EFO	experimental factor	chronic myelogenous leukemia
EFO:0000341	\N	\N	"A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema." []	EFO:0000341	"A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema." []	64209	\N	\N	EFO	0	EFO	chronic obstructive pulmonary disease	chronic obstructive pulmonary disease
EFO:0003818	EFO:0000341	\N	"Pathological processes involving any part of the LUNG." []	EFO:0000341	"A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema." []	204665	\N	\N	EFO	1	EFO	lung disease	chronic obstructive pulmonary disease
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000341	"A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema." []	557724	\N	\N	EFO	2	EFO	respiratory system disease	chronic obstructive pulmonary disease
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000341	"A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema." []	1140023	\N	\N	EFO	3	EFO	disease	chronic obstructive pulmonary disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000341	"A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema." []	2023066	\N	\N	EFO	4	EFO	disposition	chronic obstructive pulmonary disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000341	"A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema." []	3177069	\N	\N	EFO	5	EFO	material property	chronic obstructive pulmonary disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000341	"A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema." []	4387562	\N	\N	EFO	6	EFO	experimental factor	chronic obstructive pulmonary disease
EFO:0000342	\N	\N	"INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." []	EFO:0000342	"INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." []	64210	\N	\N	EFO	0	EFO	chronic pancreatitis	chronic pancreatitis
EFO:0000278	EFO:0000342	\N	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	EFO:0000342	"INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." []	204666	\N	\N	EFO	1	EFO	pancreatitis	chronic pancreatitis
EFO:0000405	EFO:0000278	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000342	"INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." []	557725	\N	\N	EFO	2	EFO	digestive system disease	chronic pancreatitis
EFO:0001379	EFO:0000278	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000342	"INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." []	557726	\N	\N	EFO	2	EFO	endocrine system disease	chronic pancreatitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000342	"INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." []	1140024	\N	\N	EFO	3	EFO	disease	chronic pancreatitis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000342	"INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." []	1140025	\N	\N	EFO	3	EFO	disease	chronic pancreatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000342	"INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." []	2023067	\N	\N	EFO	4	EFO	disposition	chronic pancreatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000342	"INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." []	3177070	\N	\N	EFO	5	EFO	material property	chronic pancreatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000342	"INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." []	4387563	\N	\N	EFO	6	EFO	experimental factor	chronic pancreatitis
EFO:0000344	\N	\N	"Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when two distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut." []	EFO:0000344	"Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when two distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut." []	64211	\N	\N	EFO	0	EFO	circular visceral mesoderm primordium	circular visceral mesoderm primordium
UBERON:0000926	\N	\N	"The middle germ layer of the embryo, between the endoderm and ectoderm." [Wikipedia:Mesoderm]	EFO:0000344	"Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when two distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut." []	194426	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	mesoderm	circular visceral mesoderm primordium
EFO:0000347	\N	\N	"An extrapolation into the future of data into a class with specified label." []	EFO:0000347	"An extrapolation into the future of data into a class with specified label." []	64212	\N	\N	EFO	0	EFO	classifier prediction	classifier prediction
OBI:0200000	EFO:0000347	\N	"A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value." []	EFO:0000347	"An extrapolation into the future of data into a class with specified label." []	204667	\N	\N	EFO	1	EFO	data transformation	classifier prediction
EFO:0002694	OBI:0200000	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000347	"An extrapolation into the future of data into a class with specified label." []	557727	\N	\N	EFO	2	EFO	experimental process	classifier prediction
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000347	"An extrapolation into the future of data into a class with specified label." []	1140026	\N	\N	EFO	3	EFO	planned process	classifier prediction
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000347	"An extrapolation into the future of data into a class with specified label." []	2023068	\N	\N	EFO	4	EFO	process	classifier prediction
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000347	"An extrapolation into the future of data into a class with specified label." []	3177071	\N	\N	EFO	5	EFO	experimental factor	classifier prediction
EFO:0000348	\N	\N	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	EFO:0000348	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	64213	\N	\N	EFO	0	EFO	clear cell adenocarcinoma	clear cell adenocarcinoma
EFO:0000228	EFO:0000348	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0000348	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	204668	\N	\N	EFO	1	EFO	adenocarcinoma	clear cell adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000348	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	557728	\N	\N	EFO	2	EFO	carcinoma	clear cell adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000348	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	1140027	\N	\N	EFO	3	EFO	cancer	clear cell adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000348	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	1140028	\N	\N	EFO	3	EFO	epithelial neoplasm	clear cell adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000348	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	2023069	\N	\N	EFO	4	EFO	neoplasm	clear cell adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000348	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	2023070	\N	\N	EFO	4	EFO	neoplasm	clear cell adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000348	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	3177072	\N	\N	EFO	5	EFO	disease	clear cell adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000348	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	4387564	\N	\N	EFO	6	EFO	disposition	clear cell adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000348	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	5408522	\N	\N	EFO	7	EFO	material property	clear cell adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000348	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	6147402	\N	\N	EFO	8	EFO	experimental factor	clear cell adenocarcinoma
EFO:0000349	\N	\N	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	64214	\N	\N	EFO	0	EFO	clear cell renal carcinoma	clear cell renal carcinoma
EFO:0000681	EFO:0000349	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	204669	\N	\N	EFO	1	EFO	renal cell carcinoma	clear cell renal carcinoma
EFO:0002890	EFO:0000681	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	557729	\N	\N	EFO	2	EFO	renal carcinoma	clear cell renal carcinoma
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	1140029	\N	\N	EFO	3	EFO	carcinoma	clear cell renal carcinoma
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	1140030	\N	\N	EFO	3	EFO	kidney neoplasm	clear cell renal carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	2023071	\N	\N	EFO	4	EFO	cancer	clear cell renal carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	2023072	\N	\N	EFO	4	EFO	epithelial neoplasm	clear cell renal carcinoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	2023073	\N	\N	EFO	4	EFO	kidney disease	clear cell renal carcinoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	2023074	\N	\N	EFO	4	EFO	urogenital neoplasm	clear cell renal carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	3177073	\N	\N	EFO	5	EFO	neoplasm	clear cell renal carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	3177074	\N	\N	EFO	5	EFO	neoplasm	clear cell renal carcinoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	3177075	\N	\N	EFO	5	EFO	disease	clear cell renal carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	3177076	\N	\N	EFO	5	EFO	neoplasm	clear cell renal carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	4387565	\N	\N	EFO	6	EFO	disease	clear cell renal carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	5408523	\N	\N	EFO	7	EFO	disposition	clear cell renal carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	5996556	\N	\N	EFO	8	EFO	material property	clear cell renal carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000349	"Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney." []	6550356	\N	\N	EFO	9	EFO	experimental factor	clear cell renal carcinoma
EFO:0000350	\N	\N	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	64215	\N	\N	EFO	0	EFO	clear cell sarcoma of the kidney	clear cell sarcoma of the kidney
EFO:0000691	EFO:0000350	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	204670	\N	\N	EFO	1	EFO	sarcoma	clear cell sarcoma of the kidney
EFO:0003865	EFO:0000350	\N	"Tumors or cancers of the KIDNEY." []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	204671	\N	\N	EFO	1	EFO	kidney neoplasm	clear cell sarcoma of the kidney
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	557730	\N	\N	EFO	2	EFO	cancer	clear cell sarcoma of the kidney
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	557731	\N	\N	EFO	2	EFO	kidney disease	clear cell sarcoma of the kidney
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	557732	\N	\N	EFO	2	EFO	urogenital neoplasm	clear cell sarcoma of the kidney
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	1140031	\N	\N	EFO	3	EFO	neoplasm	clear cell sarcoma of the kidney
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	1140032	\N	\N	EFO	3	EFO	disease	clear cell sarcoma of the kidney
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	1140033	\N	\N	EFO	3	EFO	neoplasm	clear cell sarcoma of the kidney
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	2023075	\N	\N	EFO	4	EFO	disease	clear cell sarcoma of the kidney
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	3177077	\N	\N	EFO	5	EFO	disposition	clear cell sarcoma of the kidney
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	4132532	\N	\N	EFO	6	EFO	material property	clear cell sarcoma of the kidney
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000350	"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones." []	5180892	\N	\N	EFO	7	EFO	experimental factor	clear cell sarcoma of the kidney
EFO:0000352	\N	\N	"Is an information entity about the material's (i.e., the patient's) medical record as background information relevant to the experiment." []	EFO:0000352	"Is an information entity about the material's (i.e., the patient's) medical record as background information relevant to the experiment." []	64216	\N	\N	EFO	0	EFO	clinical history	clinical history
IAO:0000030	EFO:0000352	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000352	"Is an information entity about the material's (i.e., the patient's) medical record as background information relevant to the experiment." []	204672	\N	\N	EFO	1	EFO	information entity	clinical history
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000352	"Is an information entity about the material's (i.e., the patient's) medical record as background information relevant to the experiment." []	557733	\N	\N	EFO	2	EFO	experimental factor	clinical history
EFO:0000355	\N	\N	"A clinical treatment is a treatment of some organism designed to have some clinical effect, for example the treatment of a disease E.g. radiotherapy" []	EFO:0000355	"A clinical treatment is a treatment of some organism designed to have some clinical effect, for example the treatment of a disease E.g. radiotherapy" []	64217	\N	\N	EFO	0	EFO	clinical treatment protocol	clinical treatment protocol
EFO:0003969	EFO:0000355	\N	"A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome." []	EFO:0000355	"A clinical treatment is a treatment of some organism designed to have some clinical effect, for example the treatment of a disease E.g. radiotherapy" []	204673	\N	\N	EFO	1	EFO	treatment protocol	clinical treatment protocol
OBI:0000272	EFO:0003969	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0000355	"A clinical treatment is a treatment of some organism designed to have some clinical effect, for example the treatment of a disease E.g. radiotherapy" []	557734	\N	\N	EFO	2	EFO	protocol	clinical treatment protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000355	"A clinical treatment is a treatment of some organism designed to have some clinical effect, for example the treatment of a disease E.g. radiotherapy" []	1140034	\N	\N	EFO	3	EFO	information entity	clinical treatment protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000355	"A clinical treatment is a treatment of some organism designed to have some clinical effect, for example the treatment of a disease E.g. radiotherapy" []	2023077	\N	\N	EFO	4	EFO	experimental factor	clinical treatment protocol
EFO:0000364	\N	\N	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	64218	\N	\N	EFO	0	EFO	colon mucinous adenocarcinoma	colon mucinous adenocarcinoma
EFO:0000365	EFO:0000364	\N	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	204674	\N	\N	EFO	1	EFO	colorectal adenocarcinoma	colon mucinous adenocarcinoma
EFO:0000228	EFO:0000365	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	557735	\N	\N	EFO	2	EFO	adenocarcinoma	colon mucinous adenocarcinoma
EFO:0004288	EFO:0000365	\N	"Tumors or cancer of the COLON." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	557736	\N	\N	EFO	2	EFO	colonic neoplasm	colon mucinous adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	1140035	\N	\N	EFO	3	EFO	carcinoma	colon mucinous adenocarcinoma
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	1140036	\N	\N	EFO	3	EFO	digestive system disease	colon mucinous adenocarcinoma
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	1140037	\N	\N	EFO	3	EFO	neoplasm	colon mucinous adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	2023078	\N	\N	EFO	4	EFO	cancer	colon mucinous adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	2023079	\N	\N	EFO	4	EFO	epithelial neoplasm	colon mucinous adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	2023080	\N	\N	EFO	4	EFO	disease	colon mucinous adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	4387568	\N	\N	EFO	6	EFO	disease	colon mucinous adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	3177079	\N	\N	EFO	5	EFO	neoplasm	colon mucinous adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	3177080	\N	\N	EFO	5	EFO	neoplasm	colon mucinous adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	5059299	\N	\N	EFO	7	EFO	disposition	colon mucinous adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	5876514	\N	\N	EFO	8	EFO	material property	colon mucinous adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000364	"An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin.  Malignant glandular epithelial cells are present in the mucin collections.  Mucin constitutes more than 50% of the lesion." []	6469817	\N	\N	EFO	9	EFO	experimental factor	colon mucinous adenocarcinoma
EFO:0000365	\N	\N	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	64219	\N	\N	EFO	0	EFO	colorectal adenocarcinoma	colorectal adenocarcinoma
EFO:0000228	EFO:0000365	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	204675	\N	\N	EFO	1	EFO	adenocarcinoma	colorectal adenocarcinoma
EFO:0004288	EFO:0000365	\N	"Tumors or cancer of the COLON." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	204676	\N	\N	EFO	1	EFO	colonic neoplasm	colorectal adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	557737	\N	\N	EFO	2	EFO	carcinoma	colorectal adenocarcinoma
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	557738	\N	\N	EFO	2	EFO	digestive system disease	colorectal adenocarcinoma
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	557739	\N	\N	EFO	2	EFO	neoplasm	colorectal adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	1140038	\N	\N	EFO	3	EFO	cancer	colorectal adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	1140039	\N	\N	EFO	3	EFO	epithelial neoplasm	colorectal adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	1140040	\N	\N	EFO	3	EFO	disease	colorectal adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	3177082	\N	\N	EFO	5	EFO	disease	colorectal adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	2023082	\N	\N	EFO	4	EFO	neoplasm	colorectal adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	2023083	\N	\N	EFO	4	EFO	neoplasm	colorectal adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	4066663	\N	\N	EFO	6	EFO	disposition	colorectal adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	5059300	\N	\N	EFO	7	EFO	material property	colorectal adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000365	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	5876515	\N	\N	EFO	8	EFO	experimental factor	colorectal adenocarcinoma
EFO:0000368	\N	\N	"A congenic strain in which the donor allele transferred to the host strain background is a minor histocompatibility gene." []	EFO:0000368	"A congenic strain in which the donor allele transferred to the host strain background is a minor histocompatibility gene." []	64220	\N	\N	EFO	0	EFO	minor histocompatibility congenic strain	minor histocompatibility congenic strain
EFO:0004003	EFO:0000368	\N	"A congenic strain is an  inbred strain that contains a small genetic region (ideally a single gene) from another strain, but which is otherwise identical to the original inbred strain. Congenic strains are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific locus from the donor strain. For example, CBACa.C3-KitW-x/J is an inbred strain of CBA/Ca background onto which the KitW-x allele from C3H/HeJ has been placed." []	EFO:0000368	"A congenic strain in which the donor allele transferred to the host strain background is a minor histocompatibility gene." []	204677	\N	\N	EFO	1	EFO	congenic strain	minor histocompatibility congenic strain
EFO:0004005	EFO:0004003	\N	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	EFO:0000368	"A congenic strain in which the donor allele transferred to the host strain background is a minor histocompatibility gene." []	557740	\N	\N	EFO	2	EFO	inbred Mus musculus strain	minor histocompatibility congenic strain
EFO:0004000	EFO:0004005	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0000368	"A congenic strain in which the donor allele transferred to the host strain background is a minor histocompatibility gene." []	1140042	\N	\N	EFO	3	EFO	Mus musculus strain type	minor histocompatibility congenic strain
EFO:0000369	\N	\N	"A treatment process in which a chemical compound is administered to the subject under investigation." []	EFO:0000369	"A treatment process in which a chemical compound is administered to the subject under investigation." []	64221	\N	\N	EFO	0	EFO	compound based treatment	compound based treatment
EFO:0000727	EFO:0000369	\N	"A process in which the act is intended to modify or alter some other material entity," []	EFO:0000369	"A treatment process in which a chemical compound is administered to the subject under investigation." []	204678	\N	\N	EFO	1	EFO	treatment	compound based treatment
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000369	"A treatment process in which a chemical compound is administered to the subject under investigation." []	557741	\N	\N	EFO	2	EFO	experimental process	compound based treatment
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000369	"A treatment process in which a chemical compound is administered to the subject under investigation." []	1140043	\N	\N	EFO	3	EFO	planned process	compound based treatment
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000369	"A treatment process in which a chemical compound is administered to the subject under investigation." []	2023085	\N	\N	EFO	4	EFO	process	compound based treatment
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000369	"A treatment process in which a chemical compound is administered to the subject under investigation." []	3177084	\N	\N	EFO	5	EFO	experimental factor	compound based treatment
EFO:0000370	\N	\N	"A genetic modification introduced by treatment of an individual by chemical mutagenesis, e.g. by use of ENU" []	EFO:0000370	"A genetic modification introduced by treatment of an individual by chemical mutagenesis, e.g. by use of ENU" []	64222	\N	\N	EFO	0	EFO	chemically induced mutation	chemically induced mutation
EFO:0005315	EFO:0000370	\N	"A genetic transformation that the modification of the genetic material (either coding or non-coding) of an organism is caused by mutagenic compounds or irradiation" []	EFO:0000370	"A genetic modification introduced by treatment of an individual by chemical mutagenesis, e.g. by use of ENU" []	204679	\N	\N	EFO	1	EFO	induced mutation	chemically induced mutation
EFO:0000510	EFO:0005315	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0000370	"A genetic modification introduced by treatment of an individual by chemical mutagenesis, e.g. by use of ENU" []	557742	\N	\N	EFO	2	EFO	genetic modification	chemically induced mutation
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000370	"A genetic modification introduced by treatment of an individual by chemical mutagenesis, e.g. by use of ENU" []	1140044	\N	\N	EFO	3	EFO	experimental process	chemically induced mutation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000370	"A genetic modification introduced by treatment of an individual by chemical mutagenesis, e.g. by use of ENU" []	2023086	\N	\N	EFO	4	EFO	planned process	chemically induced mutation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000370	"A genetic modification introduced by treatment of an individual by chemical mutagenesis, e.g. by use of ENU" []	3177085	\N	\N	EFO	5	EFO	process	chemically induced mutation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000370	"A genetic modification introduced by treatment of an individual by chemical mutagenesis, e.g. by use of ENU" []	4387571	\N	\N	EFO	6	EFO	experimental factor	chemically induced mutation
EFO:0000373	\N	\N	"Heart failure involving the RIGHT VENTRICLE." []	EFO:0000373	"Heart failure involving the RIGHT VENTRICLE." []	64223	\N	\N	EFO	0	EFO	congestive heart failure	congestive heart failure
EFO:0003144	EFO:0000373	\N	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	EFO:0000373	"Heart failure involving the RIGHT VENTRICLE." []	204680	\N	\N	EFO	1	EFO	heart failure	congestive heart failure
EFO:0003777	EFO:0003144	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0000373	"Heart failure involving the RIGHT VENTRICLE." []	557743	\N	\N	EFO	2	EFO	heart disease	congestive heart failure
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000373	"Heart failure involving the RIGHT VENTRICLE." []	1140045	\N	\N	EFO	3	EFO	cardiovascular disease	congestive heart failure
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000373	"Heart failure involving the RIGHT VENTRICLE." []	2023087	\N	\N	EFO	4	EFO	disease	congestive heart failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000373	"Heart failure involving the RIGHT VENTRICLE." []	3177086	\N	\N	EFO	5	EFO	disposition	congestive heart failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000373	"Heart failure involving the RIGHT VENTRICLE." []	4387572	\N	\N	EFO	6	EFO	material property	congestive heart failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000373	"Heart failure involving the RIGHT VENTRICLE." []	5408526	\N	\N	EFO	7	EFO	experimental factor	congestive heart failure
EFO:0000375	\N	\N	"An array design in which a reporter that could be hybridized to an exogenously added nucleic acid or protein (spike) before or during hybridization is used as a control for data processing." []	EFO:0000375	"An array design in which a reporter that could be hybridized to an exogenously added nucleic acid or protein (spike) before or during hybridization is used as a control for data processing." []	64224	\N	\N	EFO	0	EFO	array control spike calibration	array control spike calibration
EFO:0005440	EFO:0000375	\N	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	EFO:0000375	"An array design in which a reporter that could be hybridized to an exogenously added nucleic acid or protein (spike) before or during hybridization is used as a control for data processing." []	204681	\N	\N	EFO	1	EFO	array control design	array control spike calibration
EFO:0000269	EFO:0005440	\N	"An instrument design which describes the design of the array." []	EFO:0000375	"An array design in which a reporter that could be hybridized to an exogenously added nucleic acid or protein (spike) before or during hybridization is used as a control for data processing." []	557744	\N	\N	EFO	2	EFO	array design	array control spike calibration
EFO:0001451	EFO:0000269	\N	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	EFO:0000375	"An array design in which a reporter that could be hybridized to an exogenously added nucleic acid or protein (spike) before or during hybridization is used as a control for data processing." []	1140046	\N	\N	EFO	3	EFO	instrument design	array control spike calibration
IAO:0000030	EFO:0001451	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000375	"An array design in which a reporter that could be hybridized to an exogenously added nucleic acid or protein (spike) before or during hybridization is used as a control for data processing." []	2023088	\N	\N	EFO	4	EFO	information entity	array control spike calibration
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000375	"An array design in which a reporter that could be hybridized to an exogenously added nucleic acid or protein (spike) before or during hybridization is used as a control for data processing." []	3177087	\N	\N	EFO	5	EFO	experimental factor	array control spike calibration
EFO:0000378	\N	\N	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	EFO:0000378	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	64225	\N	\N	EFO	0	EFO	coronary artery disease	coronary artery disease
EFO:0001645	EFO:0000378	\N	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	EFO:0000378	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	204682	\N	\N	EFO	1	EFO	coronary heart disease	coronary artery disease
EFO:0003777	EFO:0001645	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0000378	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	557745	\N	\N	EFO	2	EFO	heart disease	coronary artery disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000378	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	1140047	\N	\N	EFO	3	EFO	cardiovascular disease	coronary artery disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000378	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	2023089	\N	\N	EFO	4	EFO	disease	coronary artery disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000378	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	3177088	\N	\N	EFO	5	EFO	disposition	coronary artery disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000378	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	4387573	\N	\N	EFO	6	EFO	material property	coronary artery disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000378	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	5408527	\N	\N	EFO	7	EFO	experimental factor	coronary artery disease
EFO:0000384	\N	\N	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	EFO:0000384	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	64226	\N	\N	EFO	0	EFO	Crohn's disease	Crohn's disease
EFO:0003767	EFO:0000384	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:0000384	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	204683	\N	\N	EFO	1	EFO	inflammatory bowel disease	Crohn's disease
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000384	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	557746	\N	\N	EFO	2	EFO	digestive system disease	Crohn's disease
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0000384	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	557747	\N	\N	EFO	2	EFO	autoimmune disease	Crohn's disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000384	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	1140048	\N	\N	EFO	3	EFO	disease	Crohn's disease
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000384	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	1140049	\N	\N	EFO	3	EFO	immune system disease	Crohn's disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000384	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	3177090	\N	\N	EFO	5	EFO	disposition	Crohn's disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000384	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	2023091	\N	\N	EFO	4	EFO	disease	Crohn's disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000384	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	4132533	\N	\N	EFO	6	EFO	material property	Crohn's disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000384	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	5180893	\N	\N	EFO	7	EFO	experimental factor	Crohn's disease
EFO:0000386	\N	\N	"" []	EFO:0000386	"" []	64227	\N	\N	EFO	0	EFO	crystal cell specific anlage	crystal cell specific anlage
EFO:0000795	EFO:0000386	\N	"Embryonic structure (body structure)" []	EFO:0000386	"" []	204684	\N	\N	EFO	1	EFO	animal developmental tissue	crystal cell specific anlage
EFO:0000787	EFO:0000795	\N	"" []	EFO:0000386	"" []	557748	\N	\N	EFO	2	EFO	animal component	crystal cell specific anlage
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000386	"" []	1140050	\N	\N	EFO	3	EFO	anatomy basic component	crystal cell specific anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000386	"" []	2023092	\N	\N	EFO	4	EFO	organism part	crystal cell specific anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000386	"" []	3177091	\N	\N	EFO	5	EFO	material entity	crystal cell specific anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000386	"" []	4387575	\N	\N	EFO	6	EFO	experimental factor	crystal cell specific anlage
EFO:0000388	\N	\N	"The measure of movement of electrical charges in a conductor measured in milliamperes." []	EFO:0000388	"The measure of movement of electrical charges in a conductor measured in milliamperes." []	64228	\N	\N	EFO	0	EFO	electrical current	electrical current
EFO:0001444	EFO:0000388	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000388	"The measure of movement of electrical charges in a conductor measured in milliamperes." []	204685	\N	\N	EFO	1	EFO	measurement	electrical current
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000388	"The measure of movement of electrical charges in a conductor measured in milliamperes." []	557749	\N	\N	EFO	2	EFO	information entity	electrical current
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000388	"The measure of movement of electrical charges in a conductor measured in milliamperes." []	1140051	\N	\N	EFO	3	EFO	experimental factor	electrical current
EFO:0000389	\N	\N	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	64229	\N	\N	EFO	0	EFO	cutaneous melanoma	cutaneous melanoma
EFO:0000756	EFO:0000389	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	204686	\N	\N	EFO	1	EFO	melanoma	cutaneous melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	557750	\N	\N	EFO	2	EFO	carcinoma	cutaneous melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	557751	\N	\N	EFO	2	EFO	skin neoplasm	cutaneous melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	1140052	\N	\N	EFO	3	EFO	cancer	cutaneous melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	1140053	\N	\N	EFO	3	EFO	epithelial neoplasm	cutaneous melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	1140054	\N	\N	EFO	3	EFO	neoplasm	cutaneous melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	1140055	\N	\N	EFO	3	EFO	skin disease	cutaneous melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	2023093	\N	\N	EFO	4	EFO	neoplasm	cutaneous melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	2023094	\N	\N	EFO	4	EFO	neoplasm	cutaneous melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	3177092	\N	\N	EFO	5	EFO	disease	cutaneous melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	2023096	\N	\N	EFO	4	EFO	disease	cutaneous melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	4132534	\N	\N	EFO	6	EFO	disposition	cutaneous melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	5180894	\N	\N	EFO	7	EFO	material property	cutaneous melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000389	"A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." []	5996557	\N	\N	EFO	8	EFO	experimental factor	cutaneous melanoma
EFO:0000391	\N	\N	"A measurement of physical damage, e.g. by a caterpillar on a plant leaf" []	EFO:0000391	"A measurement of physical damage, e.g. by a caterpillar on a plant leaf" []	64230	\N	\N	EFO	0	EFO	damage intensity	damage intensity
EFO:0001444	EFO:0000391	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000391	"A measurement of physical damage, e.g. by a caterpillar on a plant leaf" []	204687	\N	\N	EFO	1	EFO	measurement	damage intensity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000391	"A measurement of physical damage, e.g. by a caterpillar on a plant leaf" []	557752	\N	\N	EFO	2	EFO	information entity	damage intensity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000391	"A measurement of physical damage, e.g. by a caterpillar on a plant leaf" []	1140056	\N	\N	EFO	3	EFO	experimental factor	damage intensity
EFO:0000393	\N	\N	"" []	EFO:0000393	"" []	64231	\N	\N	EFO	0	EFO	Robertsonian translocation	Robertsonian translocation
EFO:0004024	EFO:0000393	\N	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" []	EFO:0000393	"" []	204688	\N	\N	EFO	1	EFO	translocation	Robertsonian translocation
EFO:0000336	EFO:0004024	\N	"An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." []	EFO:0000393	"" []	557753	\N	\N	EFO	2	EFO	chromosomal aberration	Robertsonian translocation
EFO:0000510	EFO:0000336	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0000393	"" []	1140057	\N	\N	EFO	3	EFO	genetic modification	Robertsonian translocation
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000393	"" []	2023097	\N	\N	EFO	4	EFO	experimental process	Robertsonian translocation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000393	"" []	3177094	\N	\N	EFO	5	EFO	planned process	Robertsonian translocation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000393	"" []	4387577	\N	\N	EFO	6	EFO	process	Robertsonian translocation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000393	"" []	5408529	\N	\N	EFO	7	EFO	experimental factor	Robertsonian translocation
EFO:0000394	\N	\N	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	64232	\N	\N	EFO	0	EFO	dedifferentiated chondrosarcoma	dedifferentiated chondrosarcoma
EFO:0000691	EFO:0000394	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	204689	\N	\N	EFO	1	EFO	sarcoma	dedifferentiated chondrosarcoma
EFO:0003820	EFO:0000394	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	204690	\N	\N	EFO	1	EFO	bone neoplasm	dedifferentiated chondrosarcoma
EFO:0004260	EFO:0000394	\N	"Diseases of BONES." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	204691	\N	\N	EFO	1	EFO	bone disease	dedifferentiated chondrosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	557754	\N	\N	EFO	2	EFO	cancer	dedifferentiated chondrosarcoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	557755	\N	\N	EFO	2	EFO	neoplasm	dedifferentiated chondrosarcoma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	557756	\N	\N	EFO	2	EFO	skeletal system disease	dedifferentiated chondrosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	1140058	\N	\N	EFO	3	EFO	neoplasm	dedifferentiated chondrosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	2023098	\N	\N	EFO	4	EFO	disease	dedifferentiated chondrosarcoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	1140060	\N	\N	EFO	3	EFO	disease	dedifferentiated chondrosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	2999232	\N	\N	EFO	5	EFO	disposition	dedifferentiated chondrosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	4132535	\N	\N	EFO	6	EFO	material property	dedifferentiated chondrosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000394	"An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." []	5180895	\N	\N	EFO	7	EFO	experimental factor	dedifferentiated chondrosarcoma
EFO:0000395	\N	\N	"A description of the method used to deliver e.g. a compound or solution for treatment." []	EFO:0000395	"A description of the method used to deliver e.g. a compound or solution for treatment." []	64233	\N	\N	EFO	0	EFO	delivery method	delivery method
OBI:0000272	EFO:0000395	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0000395	"A description of the method used to deliver e.g. a compound or solution for treatment." []	204692	\N	\N	EFO	1	EFO	protocol	delivery method
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000395	"A description of the method used to deliver e.g. a compound or solution for treatment." []	557757	\N	\N	EFO	2	EFO	information entity	delivery method
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000395	"A description of the method used to deliver e.g. a compound or solution for treatment." []	1140061	\N	\N	EFO	3	EFO	experimental factor	delivery method
EFO:0000397	\N	\N	"A dermal neurofibroma is a neurofibroma that occurs in situ of the skin." []	EFO:0000397	"A dermal neurofibroma is a neurofibroma that occurs in situ of the skin." []	64234	\N	\N	EFO	0	EFO	dermal neurofibroma	dermal neurofibroma
EFO:0000622	EFO:0000397	\N	"An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." []	EFO:0000397	"A dermal neurofibroma is a neurofibroma that occurs in situ of the skin." []	204693	\N	\N	EFO	1	EFO	neurofibroma	dermal neurofibroma
EFO:0002431	EFO:0000622	\N	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	EFO:0000397	"A dermal neurofibroma is a neurofibroma that occurs in situ of the skin." []	557758	\N	\N	EFO	2	EFO	tumour of cranial and spinal nerves	dermal neurofibroma
EFO:0000311	EFO:0002431	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000397	"A dermal neurofibroma is a neurofibroma that occurs in situ of the skin." []	1140062	\N	\N	EFO	3	EFO	cancer	dermal neurofibroma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000397	"A dermal neurofibroma is a neurofibroma that occurs in situ of the skin." []	2023100	\N	\N	EFO	4	EFO	neoplasm	dermal neurofibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000397	"A dermal neurofibroma is a neurofibroma that occurs in situ of the skin." []	3177096	\N	\N	EFO	5	EFO	disease	dermal neurofibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000397	"A dermal neurofibroma is a neurofibroma that occurs in situ of the skin." []	4387579	\N	\N	EFO	6	EFO	disposition	dermal neurofibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000397	"A dermal neurofibroma is a neurofibroma that occurs in situ of the skin." []	5408530	\N	\N	EFO	7	EFO	material property	dermal neurofibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000397	"A dermal neurofibroma is a neurofibroma that occurs in situ of the skin." []	6147404	\N	\N	EFO	8	EFO	experimental factor	dermal neurofibroma
EFO:0000398	\N	\N	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	EFO:0000398	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	64235	\N	\N	EFO	0	EFO	dermatomyositis	dermatomyositis
EFO:0000701	EFO:0000398	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0000398	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	204694	\N	\N	EFO	1	EFO	skin disease	dermatomyositis
EFO:0000783	EFO:0000398	\N	"Inflammation of a muscle or muscle tissue." []	EFO:0000398	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	204695	\N	\N	EFO	1	EFO	myositis	dermatomyositis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000398	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	557759	\N	\N	EFO	2	EFO	disease	dermatomyositis
EFO:0000540	EFO:0000783	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000398	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	557760	\N	\N	EFO	2	EFO	immune system disease	dermatomyositis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000398	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	2023102	\N	\N	EFO	4	EFO	disposition	dermatomyositis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000398	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	1140064	\N	\N	EFO	3	EFO	disease	dermatomyositis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000398	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	2999233	\N	\N	EFO	5	EFO	material property	dermatomyositis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000398	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	4132536	\N	\N	EFO	6	EFO	experimental factor	dermatomyositis
EFO:0000399	\N	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0000399	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	64236	\N	\N	EFO	0	EFO	developmental stage	developmental stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000399	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	204696	\N	\N	EFO	1	EFO	process	developmental stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000399	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	557761	\N	\N	EFO	2	EFO	experimental factor	developmental stage
EFO:0000400	\N	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	EFO:0000400	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	64237	\N	\N	EFO	0	EFO	diabetes mellitus	diabetes mellitus
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0000400	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	204697	\N	\N	EFO	1	EFO	metabolic disease	diabetes mellitus
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000400	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	557762	\N	\N	EFO	2	EFO	disease	diabetes mellitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000400	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	1140065	\N	\N	EFO	3	EFO	disposition	diabetes mellitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000400	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	2023103	\N	\N	EFO	4	EFO	material property	diabetes mellitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000400	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	3177098	\N	\N	EFO	5	EFO	experimental factor	diabetes mellitus
EFO:0000401	\N	\N	"Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." []	EFO:0000401	"Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." []	64238	\N	\N	EFO	0	EFO	diabetic nephropathy	diabetic nephropathy
EFO:0000589	EFO:0000401	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0000401	"Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." []	204698	\N	\N	EFO	1	EFO	metabolic disease	diabetic nephropathy
EFO:0003086	EFO:0000401	\N	"A disease affecting the kidneys" []	EFO:0000401	"Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." []	204699	\N	\N	EFO	1	EFO	kidney disease	diabetic nephropathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000401	"Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." []	557763	\N	\N	EFO	2	EFO	disease	diabetic nephropathy
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000401	"Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." []	557764	\N	\N	EFO	2	EFO	disease	diabetic nephropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000401	"Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." []	1140066	\N	\N	EFO	3	EFO	disposition	diabetic nephropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000401	"Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." []	2023104	\N	\N	EFO	4	EFO	material property	diabetic nephropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000401	"Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." []	3177099	\N	\N	EFO	5	EFO	experimental factor	diabetic nephropathy
EFO:0000402	\N	\N	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	64239	\N	\N	EFO	0	EFO	diffuse gastric adenocarcinoma	diffuse gastric adenocarcinoma
EFO:0000228	EFO:0000402	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	204700	\N	\N	EFO	1	EFO	adenocarcinoma	diffuse gastric adenocarcinoma
EFO:0003897	EFO:0000402	\N	"Tumors or cancer of the STOMACH." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	204701	\N	\N	EFO	1	EFO	stomach neoplasm	diffuse gastric adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	557765	\N	\N	EFO	2	EFO	carcinoma	diffuse gastric adenocarcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	557766	\N	\N	EFO	2	EFO	digestive system disease	diffuse gastric adenocarcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	557767	\N	\N	EFO	2	EFO	neoplasm	diffuse gastric adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	1140067	\N	\N	EFO	3	EFO	cancer	diffuse gastric adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	1140068	\N	\N	EFO	3	EFO	epithelial neoplasm	diffuse gastric adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	1140069	\N	\N	EFO	3	EFO	disease	diffuse gastric adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	3177100	\N	\N	EFO	5	EFO	disease	diffuse gastric adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	2023105	\N	\N	EFO	4	EFO	neoplasm	diffuse gastric adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	2023106	\N	\N	EFO	4	EFO	neoplasm	diffuse gastric adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	4066664	\N	\N	EFO	6	EFO	disposition	diffuse gastric adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	5059301	\N	\N	EFO	7	EFO	material property	diffuse gastric adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000402	"An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration." []	5876516	\N	\N	EFO	8	EFO	experimental factor	diffuse gastric adenocarcinoma
EFO:0000403	\N	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	64240	\N	\N	EFO	0	EFO	diffuse large B-cell lymphoma	diffuse large B-cell lymphoma
EFO:0000096	EFO:0000403	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	204702	\N	\N	EFO	1	EFO	neoplasm of mature B-cells	diffuse large B-cell lymphoma
EFO:0000574	EFO:0000403	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	204703	\N	\N	EFO	1	EFO	lymphoma	diffuse large B-cell lymphoma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	557768	\N	\N	EFO	2	EFO	lymphoid neoplasm	diffuse large B-cell lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	557769	\N	\N	EFO	2	EFO	lymphoid neoplasm	diffuse large B-cell lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	1140071	\N	\N	EFO	3	EFO	cancer	diffuse large B-cell lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	1140072	\N	\N	EFO	3	EFO	hematological system disease	diffuse large B-cell lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	2023108	\N	\N	EFO	4	EFO	neoplasm	diffuse large B-cell lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	2023109	\N	\N	EFO	4	EFO	disease	diffuse large B-cell lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	3177102	\N	\N	EFO	5	EFO	disease	diffuse large B-cell lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	4387581	\N	\N	EFO	6	EFO	disposition	diffuse large B-cell lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	5180896	\N	\N	EFO	7	EFO	material property	diffuse large B-cell lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000403	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	5996558	\N	\N	EFO	8	EFO	experimental factor	diffuse large B-cell lymphoma
EFO:0000404	\N	\N	"A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability." []	EFO:0000404	"A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability." []	64241	\N	\N	EFO	0	EFO	diffuse scleroderma	diffuse scleroderma
EFO:0000540	EFO:0000404	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000404	"A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability." []	204704	\N	\N	EFO	1	EFO	immune system disease	diffuse scleroderma
EFO:0000701	EFO:0000404	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0000404	"A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability." []	204705	\N	\N	EFO	1	EFO	skin disease	diffuse scleroderma
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000404	"A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability." []	557770	\N	\N	EFO	2	EFO	disease	diffuse scleroderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000404	"A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability." []	557771	\N	\N	EFO	2	EFO	disease	diffuse scleroderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000404	"A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability." []	1140073	\N	\N	EFO	3	EFO	disposition	diffuse scleroderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000404	"A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability." []	2023110	\N	\N	EFO	4	EFO	material property	diffuse scleroderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000404	"A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability." []	3177104	\N	\N	EFO	5	EFO	experimental factor	diffuse scleroderma
EFO:0000405	\N	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000405	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	64242	\N	\N	EFO	0	EFO	digestive system disease	digestive system disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000405	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	204706	\N	\N	EFO	1	EFO	disease	digestive system disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000405	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	557772	\N	\N	EFO	2	EFO	disposition	digestive system disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000405	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	1140074	\N	\N	EFO	3	EFO	material property	digestive system disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000405	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	2023111	\N	\N	EFO	4	EFO	experimental factor	digestive system disease
EFO:0000407	\N	\N	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" []	EFO:0000407	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" []	64243	\N	\N	EFO	0	EFO	dilated cardiomyopathy	dilated cardiomyopathy
EFO:0000318	EFO:0000407	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:0000407	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" []	204707	\N	\N	EFO	1	EFO	cardiomyopathy	dilated cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0000407	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" []	557773	\N	\N	EFO	2	EFO	heart disease	dilated cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000407	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" []	1140075	\N	\N	EFO	3	EFO	cardiovascular disease	dilated cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000407	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" []	2023112	\N	\N	EFO	4	EFO	disease	dilated cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000407	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" []	3177105	\N	\N	EFO	5	EFO	disposition	dilated cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000407	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" []	4387583	\N	\N	EFO	6	EFO	material property	dilated cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000407	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" []	5408532	\N	\N	EFO	7	EFO	experimental factor	dilated cardiomyopathy
EFO:0000408	\N	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000408	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	64244	\N	\N	EFO	0	EFO	disease	disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000408	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	204708	\N	\N	EFO	1	EFO	disposition	disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000408	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	557774	\N	\N	EFO	2	EFO	material property	disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000408	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	1140076	\N	\N	EFO	3	EFO	experimental factor	disease
EFO:0000409	\N	\N	"A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease." []	EFO:0000409	"A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease." []	64245	\N	\N	EFO	0	EFO	disease free survival	disease free survival
EFO:0000482	EFO:0000409	\N	"Is the survival of a subject (or group of subjects) measured from the date of diagnosis until  locoregional or systemic recurrence,  second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." []	EFO:0000409	"A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease." []	204709	\N	\N	EFO	1	EFO	event free survival time	disease free survival
EFO:0000714	EFO:0000482	\N	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	EFO:0000409	"A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease." []	557775	\N	\N	EFO	2	EFO	survival time	disease free survival
EFO:0004949	EFO:0000714	\N	"A temporal measurement related to disease progression" []	EFO:0000409	"A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease." []	1140077	\N	\N	EFO	3	EFO	clinical temporal measurement	disease free survival
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0000409	"A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease." []	2023113	\N	\N	EFO	4	EFO	temporal measurement	disease free survival
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000409	"A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease." []	3177106	\N	\N	EFO	5	EFO	measurement	disease free survival
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000409	"A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease." []	4387584	\N	\N	EFO	6	EFO	information entity	disease free survival
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000409	"A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease." []	5408533	\N	\N	EFO	7	EFO	experimental factor	disease free survival
EFO:0000410	\N	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0000410	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	64246	\N	\N	EFO	0	EFO	disease staging	disease staging
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000410	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	204710	\N	\N	EFO	1	EFO	disposition	disease staging
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000410	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	557776	\N	\N	EFO	2	EFO	material property	disease staging
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000410	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	1140078	\N	\N	EFO	3	EFO	experimental factor	disease staging
EFO:0000412	\N	\N	"Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer." []	EFO:0000412	"Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer." []	64247	\N	\N	EFO	0	EFO	distant metastasis free survival	distant metastasis free survival
EFO:0004919	EFO:0000412	\N	"The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population." []	EFO:0000412	"Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer." []	204711	\N	\N	EFO	1	EFO	metastasis free survival	distant metastasis free survival
EFO:0000482	EFO:0004919	\N	"Is the survival of a subject (or group of subjects) measured from the date of diagnosis until  locoregional or systemic recurrence,  second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." []	EFO:0000412	"Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer." []	557777	\N	\N	EFO	2	EFO	event free survival time	distant metastasis free survival
EFO:0000714	EFO:0000482	\N	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	EFO:0000412	"Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer." []	1140079	\N	\N	EFO	3	EFO	survival time	distant metastasis free survival
EFO:0004949	EFO:0000714	\N	"A temporal measurement related to disease progression" []	EFO:0000412	"Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer." []	2023114	\N	\N	EFO	4	EFO	clinical temporal measurement	distant metastasis free survival
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0000412	"Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer." []	3177107	\N	\N	EFO	5	EFO	temporal measurement	distant metastasis free survival
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000412	"Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer." []	4387585	\N	\N	EFO	6	EFO	measurement	distant metastasis free survival
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000412	"Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer." []	5408534	\N	\N	EFO	7	EFO	information entity	distant metastasis free survival
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000412	"Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer." []	6147405	\N	\N	EFO	8	EFO	experimental factor	distant metastasis free survival
EFO:0000413	\N	\N	"" []	EFO:0000413	"" []	64248	\N	\N	EFO	0	EFO	dorsal apodeme specific anlage	dorsal apodeme specific anlage
EFO:0000795	EFO:0000413	\N	"Embryonic structure (body structure)" []	EFO:0000413	"" []	204712	\N	\N	EFO	1	EFO	animal developmental tissue	dorsal apodeme specific anlage
EFO:0000787	EFO:0000795	\N	"" []	EFO:0000413	"" []	557778	\N	\N	EFO	2	EFO	animal component	dorsal apodeme specific anlage
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000413	"" []	1140080	\N	\N	EFO	3	EFO	anatomy basic component	dorsal apodeme specific anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000413	"" []	2023115	\N	\N	EFO	4	EFO	organism part	dorsal apodeme specific anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000413	"" []	3177108	\N	\N	EFO	5	EFO	material entity	dorsal apodeme specific anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000413	"" []	4387586	\N	\N	EFO	6	EFO	experimental factor	dorsal apodeme specific anlage
EFO:0000415	\N	\N	"" []	EFO:0000415	"" []	64249	\N	\N	EFO	0	EFO	dorsal ectoderm anlage in statu nascendi	dorsal ectoderm anlage in statu nascendi
EFO:0000795	EFO:0000415	\N	"Embryonic structure (body structure)" []	EFO:0000415	"" []	204713	\N	\N	EFO	1	EFO	animal developmental tissue	dorsal ectoderm anlage in statu nascendi
EFO:0000787	EFO:0000795	\N	"" []	EFO:0000415	"" []	557779	\N	\N	EFO	2	EFO	animal component	dorsal ectoderm anlage in statu nascendi
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000415	"" []	1140081	\N	\N	EFO	3	EFO	anatomy basic component	dorsal ectoderm anlage in statu nascendi
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000415	"" []	2023116	\N	\N	EFO	4	EFO	organism part	dorsal ectoderm anlage in statu nascendi
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000415	"" []	3177109	\N	\N	EFO	5	EFO	material entity	dorsal ectoderm anlage in statu nascendi
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000415	"" []	4387587	\N	\N	EFO	6	EFO	experimental factor	dorsal ectoderm anlage in statu nascendi
EFO:0000416	\N	\N	"" []	EFO:0000416	"" []	64250	\N	\N	EFO	0	EFO	dorsal ectoderm primordium	dorsal ectoderm primordium
EFO:0000795	EFO:0000416	\N	"Embryonic structure (body structure)" []	EFO:0000416	"" []	204714	\N	\N	EFO	1	EFO	animal developmental tissue	dorsal ectoderm primordium
EFO:0000787	EFO:0000795	\N	"" []	EFO:0000416	"" []	557780	\N	\N	EFO	2	EFO	animal component	dorsal ectoderm primordium
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000416	"" []	1140082	\N	\N	EFO	3	EFO	anatomy basic component	dorsal ectoderm primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000416	"" []	2023117	\N	\N	EFO	4	EFO	organism part	dorsal ectoderm primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000416	"" []	3177110	\N	\N	EFO	5	EFO	material entity	dorsal ectoderm primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000416	"" []	4387588	\N	\N	EFO	6	EFO	experimental factor	dorsal ectoderm primordium
EFO:0000423	\N	\N	"" []	EFO:0000423	"" []	64251	\N	\N	EFO	0	EFO	dorsal prothoracic pharyngeal muscle	dorsal prothoracic pharyngeal muscle
EFO:0000795	EFO:0000423	\N	"Embryonic structure (body structure)" []	EFO:0000423	"" []	204715	\N	\N	EFO	1	EFO	animal developmental tissue	dorsal prothoracic pharyngeal muscle
EFO:0000787	EFO:0000795	\N	"" []	EFO:0000423	"" []	557781	\N	\N	EFO	2	EFO	animal component	dorsal prothoracic pharyngeal muscle
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000423	"" []	1140083	\N	\N	EFO	3	EFO	anatomy basic component	dorsal prothoracic pharyngeal muscle
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000423	"" []	2023118	\N	\N	EFO	4	EFO	organism part	dorsal prothoracic pharyngeal muscle
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000423	"" []	3177111	\N	\N	EFO	5	EFO	material entity	dorsal prothoracic pharyngeal muscle
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000423	"" []	4387589	\N	\N	EFO	6	EFO	experimental factor	dorsal prothoracic pharyngeal muscle
EFO:0000428	\N	\N	"The total quantity or strength of a substance administered at one time." []	EFO:0000428	"The total quantity or strength of a substance administered at one time." []	64252	\N	\N	EFO	0	EFO	dose	dose
EFO:0001444	EFO:0000428	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000428	"The total quantity or strength of a substance administered at one time." []	204716	\N	\N	EFO	1	EFO	measurement	dose
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000428	"The total quantity or strength of a substance administered at one time." []	557782	\N	\N	EFO	2	EFO	information entity	dose
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000428	"The total quantity or strength of a substance administered at one time." []	1140084	\N	\N	EFO	3	EFO	experimental factor	dose
EFO:0000430	\N	\N	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	EFO:0000430	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	64253	\N	\N	EFO	0	EFO	ductal adenocarcinoma	ductal adenocarcinoma
EFO:0000228	EFO:0000430	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0000430	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	204717	\N	\N	EFO	1	EFO	adenocarcinoma	ductal adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000430	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	557783	\N	\N	EFO	2	EFO	carcinoma	ductal adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000430	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	1140085	\N	\N	EFO	3	EFO	cancer	ductal adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000430	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	1140086	\N	\N	EFO	3	EFO	epithelial neoplasm	ductal adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000430	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	2023119	\N	\N	EFO	4	EFO	neoplasm	ductal adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000430	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	2023120	\N	\N	EFO	4	EFO	neoplasm	ductal adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000430	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	3177112	\N	\N	EFO	5	EFO	disease	ductal adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000430	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	4387590	\N	\N	EFO	6	EFO	disposition	ductal adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000430	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	5408535	\N	\N	EFO	7	EFO	material property	ductal adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000430	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	6147406	\N	\N	EFO	8	EFO	experimental factor	ductal adenocarcinoma
EFO:0000432	\N	\N	"A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. " []	EFO:0000432	"A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. " []	64254	\N	\N	EFO	0	EFO	ductal carcinoma in situ	ductal carcinoma in situ
EFO:0000305	EFO:0000432	\N	"Tumors or cancer of the human BREAST." []	EFO:0000432	"A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. " []	204718	\N	\N	EFO	1	EFO	breast carcinoma	ductal carcinoma in situ
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000432	"A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. " []	557784	\N	\N	EFO	2	EFO	carcinoma	ductal carcinoma in situ
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000432	"A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. " []	1140087	\N	\N	EFO	3	EFO	cancer	ductal carcinoma in situ
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000432	"A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. " []	1140088	\N	\N	EFO	3	EFO	epithelial neoplasm	ductal carcinoma in situ
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000432	"A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. " []	2023121	\N	\N	EFO	4	EFO	neoplasm	ductal carcinoma in situ
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000432	"A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. " []	2023122	\N	\N	EFO	4	EFO	neoplasm	ductal carcinoma in situ
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000432	"A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. " []	3177113	\N	\N	EFO	5	EFO	disease	ductal carcinoma in situ
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000432	"A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. " []	4387591	\N	\N	EFO	6	EFO	disposition	ductal carcinoma in situ
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000432	"A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. " []	5408536	\N	\N	EFO	7	EFO	material property	ductal carcinoma in situ
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000432	"A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. " []	6147407	\N	\N	EFO	8	EFO	experimental factor	ductal carcinoma in situ
EFO:0000433	\N	\N	"A temporal measurement of the time between two specified points." []	EFO:0000433	"A temporal measurement of the time between two specified points." []	64255	\N	\N	EFO	0	EFO	duration	duration
EFO:0000719	EFO:0000433	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0000433	"A temporal measurement of the time between two specified points." []	204719	\N	\N	EFO	1	EFO	temporal measurement	duration
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000433	"A temporal measurement of the time between two specified points." []	557785	\N	\N	EFO	2	EFO	measurement	duration
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000433	"A temporal measurement of the time between two specified points." []	1140089	\N	\N	EFO	3	EFO	information entity	duration
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000433	"A temporal measurement of the time between two specified points." []	2023123	\N	\N	EFO	4	EFO	experimental factor	duration
EFO:0000434	\N	\N	"A biotype resulting from selection in a particular habitat, e.g. the A. thaliana Ecotype Ler" []	EFO:0000434	"A biotype resulting from selection in a particular habitat, e.g. the A. thaliana Ecotype Ler" []	64256	\N	\N	EFO	0	EFO	ecotype	ecotype
OBI:0000181	EFO:0000434	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0000434	"A biotype resulting from selection in a particular habitat, e.g. the A. thaliana Ecotype Ler" []	204720	\N	\N	EFO	1	EFO	population	ecotype
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000434	"A biotype resulting from selection in a particular habitat, e.g. the A. thaliana Ecotype Ler" []	557786	\N	\N	EFO	2	EFO	material entity	ecotype
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000434	"A biotype resulting from selection in a particular habitat, e.g. the A. thaliana Ecotype Ler" []	1140090	\N	\N	EFO	3	EFO	experimental factor	ecotype
EFO:0000435	\N	\N	"" []	EFO:0000435	"" []	64257	\N	\N	EFO	0	EFO	ectoderm anlage in statu nascendi	ectoderm anlage in statu nascendi
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	EFO:0000435	"" []	194427	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	ectoderm anlage in statu nascendi
EFO:0000795	EFO:0000435	\N	"Embryonic structure (body structure)" []	EFO:0000435	"" []	204721	\N	\N	EFO	1	EFO	animal developmental tissue	ectoderm anlage in statu nascendi
EFO:0000787	EFO:0000795	\N	"" []	EFO:0000435	"" []	557787	\N	\N	EFO	2	EFO	animal component	ectoderm anlage in statu nascendi
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000435	"" []	1140091	\N	\N	EFO	3	EFO	anatomy basic component	ectoderm anlage in statu nascendi
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000435	"" []	2023124	\N	\N	EFO	4	EFO	organism part	ectoderm anlage in statu nascendi
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000435	"" []	3177114	\N	\N	EFO	5	EFO	material entity	ectoderm anlage in statu nascendi
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000435	"" []	4387592	\N	\N	EFO	6	EFO	experimental factor	ectoderm anlage in statu nascendi
EFO:0000437	\N	\N	"A poorly circumscribed morphologic variant of rhabdomyosarcoma.  It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.  There are three histologic types, spindle cell, botryoid and anaplastic." []	EFO:0000437	"A poorly circumscribed morphologic variant of rhabdomyosarcoma.  It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.  There are three histologic types, spindle cell, botryoid and anaplastic." []	64258	\N	\N	EFO	0	EFO	embryonal rhabdomyosarcoma	embryonal rhabdomyosarcoma
EFO:0002918	EFO:0000437	\N	"A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.\\n\\nA malignant mesenchymal neoplasm arising from skeletal muscle.\\n\\nCancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body." []	EFO:0000437	"A poorly circumscribed morphologic variant of rhabdomyosarcoma.  It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.  There are three histologic types, spindle cell, botryoid and anaplastic." []	204722	\N	\N	EFO	1	EFO	rhabdomyosarcoma	embryonal rhabdomyosarcoma
EFO:0000691	EFO:0002918	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000437	"A poorly circumscribed morphologic variant of rhabdomyosarcoma.  It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.  There are three histologic types, spindle cell, botryoid and anaplastic." []	557788	\N	\N	EFO	2	EFO	sarcoma	embryonal rhabdomyosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000437	"A poorly circumscribed morphologic variant of rhabdomyosarcoma.  It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.  There are three histologic types, spindle cell, botryoid and anaplastic." []	1140092	\N	\N	EFO	3	EFO	cancer	embryonal rhabdomyosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000437	"A poorly circumscribed morphologic variant of rhabdomyosarcoma.  It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.  There are three histologic types, spindle cell, botryoid and anaplastic." []	2023125	\N	\N	EFO	4	EFO	neoplasm	embryonal rhabdomyosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000437	"A poorly circumscribed morphologic variant of rhabdomyosarcoma.  It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.  There are three histologic types, spindle cell, botryoid and anaplastic." []	3177115	\N	\N	EFO	5	EFO	disease	embryonal rhabdomyosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000437	"A poorly circumscribed morphologic variant of rhabdomyosarcoma.  It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.  There are three histologic types, spindle cell, botryoid and anaplastic." []	4387593	\N	\N	EFO	6	EFO	disposition	embryonal rhabdomyosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000437	"A poorly circumscribed morphologic variant of rhabdomyosarcoma.  It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.  There are three histologic types, spindle cell, botryoid and anaplastic." []	5408537	\N	\N	EFO	7	EFO	material property	embryonal rhabdomyosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000437	"A poorly circumscribed morphologic variant of rhabdomyosarcoma.  It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.  There are three histologic types, spindle cell, botryoid and anaplastic." []	6147408	\N	\N	EFO	8	EFO	experimental factor	embryonal rhabdomyosarcoma
EFO:0000447	\N	\N	"" []	EFO:0000447	"" []	64259	\N	\N	EFO	0	EFO	embryonic central nervous system	embryonic central nervous system
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	EFO:0000447	"" []	194428	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic central nervous system
EFO:0000448	\N	\N	"A component of the embryonic/larval ring gland composed of a cluster of about 10 cells that sit medially on top of the aorta." []	EFO:0000448	"A component of the embryonic/larval ring gland composed of a cluster of about 10 cells that sit medially on top of the aorta." []	64260	\N	\N	EFO	0	EFO	embryonic corpus allatum	embryonic corpus allatum
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	EFO:0000448	"A component of the embryonic/larval ring gland composed of a cluster of about 10 cells that sit medially on top of the aorta." []	194429	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic corpus allatum
EFO:0000449	\N	\N	"The corpora cardiaca precursor first appear during stage 10 as two pairs of head mesoderm cells between the roof of the stomodeum and the inner surface of the brain primordium. Between stages 11 and 15, these cells migrate posteriorly, gradually increasing in number. During stage 15, they fuse with the precursors of the corpus allatum from the gnathal mesoderm to form the ring gland." []	EFO:0000449	"The corpora cardiaca precursor first appear during stage 10 as two pairs of head mesoderm cells between the roof of the stomodeum and the inner surface of the brain primordium. Between stages 11 and 15, these cells migrate posteriorly, gradually increasing in number. During stage 15, they fuse with the precursors of the corpus allatum from the gnathal mesoderm to form the ring gland." []	64261	\N	\N	EFO	0	EFO	embryonic corpus cardiacum	embryonic corpus cardiacum
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	EFO:0000449	"The corpora cardiaca precursor first appear during stage 10 as two pairs of head mesoderm cells between the roof of the stomodeum and the inner surface of the brain primordium. Between stages 11 and 15, these cells migrate posteriorly, gradually increasing in number. During stage 15, they fuse with the precursors of the corpus allatum from the gnathal mesoderm to form the ring gland." []	194430	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic corpus cardiacum
EFO:0000450	\N	\N	"" []	EFO:0000450	"" []	64262	\N	\N	EFO	0	EFO	embryonic cuprophilic cell	embryonic cuprophilic cell
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	EFO:0000450	"" []	194431	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic cuprophilic cell
EFO:0000464	\N	\N	"A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." []	EFO:0000464	"A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." []	64263	\N	\N	EFO	0	EFO	emphysema	emphysema
EFO:0003818	EFO:0000464	\N	"Pathological processes involving any part of the LUNG." []	EFO:0000464	"A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." []	204723	\N	\N	EFO	1	EFO	lung disease	emphysema
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000464	"A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." []	557789	\N	\N	EFO	2	EFO	respiratory system disease	emphysema
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000464	"A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." []	1140093	\N	\N	EFO	3	EFO	disease	emphysema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000464	"A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." []	2023126	\N	\N	EFO	4	EFO	disposition	emphysema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000464	"A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." []	3177116	\N	\N	EFO	5	EFO	material property	emphysema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000464	"A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." []	4387594	\N	\N	EFO	6	EFO	experimental factor	emphysema
EFO:0000465	\N	\N	"Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." []	EFO:0000465	"Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." []	64264	\N	\N	EFO	0	EFO	endocarditis	endocarditis
EFO:0003777	EFO:0000465	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0000465	"Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." []	204724	\N	\N	EFO	1	EFO	heart disease	endocarditis
EFO:0004264	EFO:0000465	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0000465	"Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." []	204725	\N	\N	EFO	1	EFO	vascular disease	endocarditis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000465	"Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." []	557790	\N	\N	EFO	2	EFO	cardiovascular disease	endocarditis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000465	"Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." []	557791	\N	\N	EFO	2	EFO	cardiovascular disease	endocarditis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000465	"Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." []	1140094	\N	\N	EFO	3	EFO	disease	endocarditis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000465	"Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." []	2023127	\N	\N	EFO	4	EFO	disposition	endocarditis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000465	"Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." []	3177117	\N	\N	EFO	5	EFO	material property	endocarditis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000465	"Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." []	4387595	\N	\N	EFO	6	EFO	experimental factor	endocarditis
EFO:0000466	\N	\N	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	64265	\N	\N	EFO	0	EFO	endometrioid carcinoma	endometrioid carcinoma
EFO:0000313	EFO:0000466	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	204726	\N	\N	EFO	1	EFO	carcinoma	endometrioid carcinoma
EFO:0000512	EFO:0000466	\N	"any diease of the reproductive system" []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	204727	\N	\N	EFO	1	EFO	reproductive system disease	endometrioid carcinoma
EFO:0003863	EFO:0000466	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	204728	\N	\N	EFO	1	EFO	urogenital neoplasm	endometrioid carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	557792	\N	\N	EFO	2	EFO	cancer	endometrioid carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	557793	\N	\N	EFO	2	EFO	epithelial neoplasm	endometrioid carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	557794	\N	\N	EFO	2	EFO	disease	endometrioid carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	557795	\N	\N	EFO	2	EFO	neoplasm	endometrioid carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	1140095	\N	\N	EFO	3	EFO	neoplasm	endometrioid carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	1140096	\N	\N	EFO	3	EFO	neoplasm	endometrioid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	2999235	\N	\N	EFO	5	EFO	disposition	endometrioid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	2023128	\N	\N	EFO	4	EFO	disease	endometrioid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	4066665	\N	\N	EFO	6	EFO	material property	endometrioid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000466	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	5059302	\N	\N	EFO	7	EFO	experimental factor	endometrioid carcinoma
EFO:0000469	\N	\N	"The external elements and conditions which surround, influence, and affect the life and development of an organism or population." []	EFO:0000469	"The external elements and conditions which surround, influence, and affect the life and development of an organism or population." []	64266	\N	\N	EFO	0	EFO	environmental factor	environmental factor
BFO:0000040	EFO:0000469	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000469	"The external elements and conditions which surround, influence, and affect the life and development of an organism or population." []	204729	\N	\N	EFO	1	EFO	material entity	environmental factor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000469	"The external elements and conditions which surround, influence, and affect the life and development of an organism or population." []	557796	\N	\N	EFO	2	EFO	experimental factor	environmental factor
EFO:0000470	\N	\N	"Environmental stress is a treatment where some aspect of the environment is perturbed in order to stress the organism or culture, e.g. change in temperature, change in watering regime" []	EFO:0000470	"Environmental stress is a treatment where some aspect of the environment is perturbed in order to stress the organism or culture, e.g. change in temperature, change in watering regime" []	64267	\N	\N	EFO	0	EFO	environmental stress	environmental stress
EFO:0000727	EFO:0000470	\N	"A process in which the act is intended to modify or alter some other material entity," []	EFO:0000470	"Environmental stress is a treatment where some aspect of the environment is perturbed in order to stress the organism or culture, e.g. change in temperature, change in watering regime" []	204730	\N	\N	EFO	1	EFO	treatment	environmental stress
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000470	"Environmental stress is a treatment where some aspect of the environment is perturbed in order to stress the organism or culture, e.g. change in temperature, change in watering regime" []	557797	\N	\N	EFO	2	EFO	experimental process	environmental stress
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000470	"Environmental stress is a treatment where some aspect of the environment is perturbed in order to stress the organism or culture, e.g. change in temperature, change in watering regime" []	1140099	\N	\N	EFO	3	EFO	planned process	environmental stress
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000470	"Environmental stress is a treatment where some aspect of the environment is perturbed in order to stress the organism or culture, e.g. change in temperature, change in watering regime" []	2023131	\N	\N	EFO	4	EFO	process	environmental stress
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000470	"Environmental stress is a treatment where some aspect of the environment is perturbed in order to stress the organism or culture, e.g. change in temperature, change in watering regime" []	3177119	\N	\N	EFO	5	EFO	experimental factor	environmental stress
EFO:0000472	\N	\N	"" []	EFO:0000472	"" []	64268	\N	\N	EFO	0	EFO	epigenetic factor	epigenetic factor
IAO:0000030	EFO:0000472	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000472	"" []	204731	\N	\N	EFO	1	EFO	information entity	epigenetic factor
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000472	"" []	557798	\N	\N	EFO	2	EFO	experimental factor	epigenetic factor
EFO:0000473	\N	\N	"Epigenetic status describes the imprinting state of a sample. E.g. Loss of imprinting occurs in some tumour cells" []	EFO:0000473	"Epigenetic status describes the imprinting state of a sample. E.g. Loss of imprinting occurs in some tumour cells" []	64269	\N	\N	EFO	0	EFO	epigenetic status	epigenetic status
EFO:0000472	EFO:0000473	\N	"" []	EFO:0000473	"Epigenetic status describes the imprinting state of a sample. E.g. Loss of imprinting occurs in some tumour cells" []	204732	\N	\N	EFO	1	EFO	epigenetic factor	epigenetic status
EFO:0004554	EFO:0000473	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0000473	"Epigenetic status describes the imprinting state of a sample. E.g. Loss of imprinting occurs in some tumour cells" []	204733	\N	\N	EFO	1	EFO	genomic measurement	epigenetic status
IAO:0000030	EFO:0000472	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000473	"Epigenetic status describes the imprinting state of a sample. E.g. Loss of imprinting occurs in some tumour cells" []	557799	\N	\N	EFO	2	EFO	information entity	epigenetic status
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000473	"Epigenetic status describes the imprinting state of a sample. E.g. Loss of imprinting occurs in some tumour cells" []	557800	\N	\N	EFO	2	EFO	measurement	epigenetic status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000473	"Epigenetic status describes the imprinting state of a sample. E.g. Loss of imprinting occurs in some tumour cells" []	2023132	\N	\N	EFO	4	EFO	experimental factor	epigenetic status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000473	"Epigenetic status describes the imprinting state of a sample. E.g. Loss of imprinting occurs in some tumour cells" []	1140101	\N	\N	EFO	3	EFO	information entity	epigenetic status
EFO:0000474	\N	\N	"A disorder characterized by recurrent seizures" []	EFO:0000474	"A disorder characterized by recurrent seizures" []	64270	\N	\N	EFO	0	EFO	epilepsy	epilepsy
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:0000474	"A disorder characterized by recurrent seizures" []	204734	\N	\N	EFO	1	EFO	brain disease	epilepsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000474	"A disorder characterized by recurrent seizures" []	557801	\N	\N	EFO	2	EFO	nervous system disease	epilepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000474	"A disorder characterized by recurrent seizures" []	1140102	\N	\N	EFO	3	EFO	disease	epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000474	"A disorder characterized by recurrent seizures" []	2023133	\N	\N	EFO	4	EFO	disposition	epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000474	"A disorder characterized by recurrent seizures" []	3177120	\N	\N	EFO	5	EFO	material property	epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000474	"A disorder characterized by recurrent seizures" []	4387596	\N	\N	EFO	6	EFO	experimental factor	epilepsy
EFO:0000478	\N	\N	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	64271	\N	\N	EFO	0	EFO	esophageal adenocarcinoma	esophageal adenocarcinoma
EFO:0000228	EFO:0000478	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	204735	\N	\N	EFO	1	EFO	adenocarcinoma	esophageal adenocarcinoma
EFO:0002916	EFO:0000478	\N	"Tumors or cancer of the ESOPHAGUS." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	204736	\N	\N	EFO	1	EFO	esophageal carcinoma	esophageal adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	557802	\N	\N	EFO	2	EFO	carcinoma	esophageal adenocarcinoma
EFO:0000313	EFO:0002916	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	557803	\N	\N	EFO	2	EFO	carcinoma	esophageal adenocarcinoma
EFO:0000405	EFO:0002916	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	557804	\N	\N	EFO	2	EFO	digestive system disease	esophageal adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	1140103	\N	\N	EFO	3	EFO	cancer	esophageal adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	1140104	\N	\N	EFO	3	EFO	epithelial neoplasm	esophageal adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	1140105	\N	\N	EFO	3	EFO	disease	esophageal adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	2023134	\N	\N	EFO	4	EFO	neoplasm	esophageal adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	2023135	\N	\N	EFO	4	EFO	neoplasm	esophageal adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	4387597	\N	\N	EFO	6	EFO	disposition	esophageal adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	3177121	\N	\N	EFO	5	EFO	disease	esophageal adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	5059303	\N	\N	EFO	7	EFO	material property	esophageal adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000478	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	5876517	\N	\N	EFO	8	EFO	experimental factor	esophageal adenocarcinoma
EFO:0000479	\N	\N	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	EFO:0000479	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	64272	\N	\N	EFO	0	EFO	essential thrombocythemia	essential thrombocythemia
EFO:0002428	EFO:0000479	\N	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	EFO:0000479	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	204737	\N	\N	EFO	1	EFO	chronic myeloproliferative disorder	essential thrombocythemia
EFO:0002427	EFO:0002428	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0000479	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	557805	\N	\N	EFO	2	EFO	myeloid neoplasm	essential thrombocythemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000479	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	1140106	\N	\N	EFO	3	EFO	lymphoid neoplasm	essential thrombocythemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000479	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	2023137	\N	\N	EFO	4	EFO	cancer	essential thrombocythemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000479	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	2023138	\N	\N	EFO	4	EFO	hematological system disease	essential thrombocythemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000479	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	3177123	\N	\N	EFO	5	EFO	neoplasm	essential thrombocythemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000479	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	3177124	\N	\N	EFO	5	EFO	disease	essential thrombocythemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000479	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	4387599	\N	\N	EFO	6	EFO	disease	essential thrombocythemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000479	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	5408538	\N	\N	EFO	7	EFO	disposition	essential thrombocythemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000479	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	5996559	\N	\N	EFO	8	EFO	material property	essential thrombocythemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000479	"A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets." []	6550357	\N	\N	EFO	9	EFO	experimental factor	essential thrombocythemia
EFO:0000480	\N	\N	"An event that has caused the permanent cessation of all vital functions; the end of life. Can be applied to a whole organism or to a part of an organism." []	EFO:0000480	"An event that has caused the permanent cessation of all vital functions; the end of life. Can be applied to a whole organism or to a part of an organism." []	64273	\N	\N	EFO	0	EFO	event death	event death
EFO:0001444	EFO:0000480	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000480	"An event that has caused the permanent cessation of all vital functions; the end of life. Can be applied to a whole organism or to a part of an organism." []	204738	\N	\N	EFO	1	EFO	measurement	event death
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000480	"An event that has caused the permanent cessation of all vital functions; the end of life. Can be applied to a whole organism or to a part of an organism." []	557806	\N	\N	EFO	2	EFO	information entity	event death
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000480	"An event that has caused the permanent cessation of all vital functions; the end of life. Can be applied to a whole organism or to a part of an organism." []	1140107	\N	\N	EFO	3	EFO	experimental factor	event death
EFO:0000482	\N	\N	"Is the survival of a subject (or group of subjects) measured from the date of diagnosis until  locoregional or systemic recurrence,  second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." []	EFO:0000482	"Is the survival of a subject (or group of subjects) measured from the date of diagnosis until  locoregional or systemic recurrence,  second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." []	64274	\N	\N	EFO	0	EFO	event free survival time	event free survival time
EFO:0000714	EFO:0000482	\N	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	EFO:0000482	"Is the survival of a subject (or group of subjects) measured from the date of diagnosis until  locoregional or systemic recurrence,  second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." []	204739	\N	\N	EFO	1	EFO	survival time	event free survival time
EFO:0004949	EFO:0000714	\N	"A temporal measurement related to disease progression" []	EFO:0000482	"Is the survival of a subject (or group of subjects) measured from the date of diagnosis until  locoregional or systemic recurrence,  second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." []	557807	\N	\N	EFO	2	EFO	clinical temporal measurement	event free survival time
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0000482	"Is the survival of a subject (or group of subjects) measured from the date of diagnosis until  locoregional or systemic recurrence,  second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." []	1140108	\N	\N	EFO	3	EFO	temporal measurement	event free survival time
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000482	"Is the survival of a subject (or group of subjects) measured from the date of diagnosis until  locoregional or systemic recurrence,  second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." []	2023139	\N	\N	EFO	4	EFO	measurement	event free survival time
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000482	"Is the survival of a subject (or group of subjects) measured from the date of diagnosis until  locoregional or systemic recurrence,  second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." []	3177125	\N	\N	EFO	5	EFO	information entity	event free survival time
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000482	"Is the survival of a subject (or group of subjects) measured from the date of diagnosis until  locoregional or systemic recurrence,  second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." []	4387601	\N	\N	EFO	6	EFO	experimental factor	event free survival time
EFO:0000483	\N	\N	"Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness." []	EFO:0000483	"Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness." []	64275	\N	\N	EFO	0	EFO	exercise	exercise
EFO:0003940	EFO:0000483	\N	"The physical activity of a human or an animal as a behavioral phenomenon." []	EFO:0000483	"Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness." []	204740	\N	\N	EFO	1	EFO	physical activity	exercise
EFO:0000487	\N	\N	"The act of subjecting someone or something to an influencing experience. E.g. exposure to cigarette smoke" []	EFO:0000487	"The act of subjecting someone or something to an influencing experience. E.g. exposure to cigarette smoke" []	64276	\N	\N	EFO	0	EFO	exposure	exposure
EFO:0002694	EFO:0000487	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000487	"The act of subjecting someone or something to an influencing experience. E.g. exposure to cigarette smoke" []	204741	\N	\N	EFO	1	EFO	experimental process	exposure
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000487	"The act of subjecting someone or something to an influencing experience. E.g. exposure to cigarette smoke" []	557808	\N	\N	EFO	2	EFO	planned process	exposure
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000487	"The act of subjecting someone or something to an influencing experience. E.g. exposure to cigarette smoke" []	1140109	\N	\N	EFO	3	EFO	process	exposure
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000487	"The act of subjecting someone or something to an influencing experience. E.g. exposure to cigarette smoke" []	2023140	\N	\N	EFO	4	EFO	experimental factor	exposure
EFO:0000488	\N	\N	"Use of spiked in controls in a measurement of the spiked in external/internal ratio" []	EFO:0000488	"Use of spiked in controls in a measurement of the spiked in external/internal ratio" []	64277	\N	\N	EFO	0	EFO	external control ratio	external control ratio
EFO:0002658	EFO:0000488	\N	"" []	EFO:0000488	"Use of spiked in controls in a measurement of the spiked in external/internal ratio" []	204742	\N	\N	EFO	1	EFO	protocol parameter	external control ratio
IAO:0000030	EFO:0002658	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000488	"Use of spiked in controls in a measurement of the spiked in external/internal ratio" []	557809	\N	\N	EFO	2	EFO	information entity	external control ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000488	"Use of spiked in controls in a measurement of the spiked in external/internal ratio" []	1140110	\N	\N	EFO	3	EFO	experimental factor	external control ratio
EFO:0000489	\N	\N	"A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland.  Clinical symptoms are related to secretion of catecholamines.  Representative examples include the superior and inferior paraaortic and bladder paragangliomas." []	EFO:0000489	"A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland.  Clinical symptoms are related to secretion of catecholamines.  Representative examples include the superior and inferior paraaortic and bladder paragangliomas." []	64278	\N	\N	EFO	0	EFO	extra-adrenal sympathetic paraganglioma	extra-adrenal sympathetic paraganglioma
EFO:0003769	EFO:0000489	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0000489	"A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland.  Clinical symptoms are related to secretion of catecholamines.  Representative examples include the superior and inferior paraaortic and bladder paragangliomas." []	204743	\N	\N	EFO	1	EFO	endocrine neoplasm	extra-adrenal sympathetic paraganglioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000489	"A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland.  Clinical symptoms are related to secretion of catecholamines.  Representative examples include the superior and inferior paraaortic and bladder paragangliomas." []	557810	\N	\N	EFO	2	EFO	neoplasm	extra-adrenal sympathetic paraganglioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000489	"A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland.  Clinical symptoms are related to secretion of catecholamines.  Representative examples include the superior and inferior paraaortic and bladder paragangliomas." []	557811	\N	\N	EFO	2	EFO	endocrine system disease	extra-adrenal sympathetic paraganglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000489	"A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland.  Clinical symptoms are related to secretion of catecholamines.  Representative examples include the superior and inferior paraaortic and bladder paragangliomas." []	1140111	\N	\N	EFO	3	EFO	disease	extra-adrenal sympathetic paraganglioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000489	"A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland.  Clinical symptoms are related to secretion of catecholamines.  Representative examples include the superior and inferior paraaortic and bladder paragangliomas." []	1140112	\N	\N	EFO	3	EFO	disease	extra-adrenal sympathetic paraganglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000489	"A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland.  Clinical symptoms are related to secretion of catecholamines.  Representative examples include the superior and inferior paraaortic and bladder paragangliomas." []	2023141	\N	\N	EFO	4	EFO	disposition	extra-adrenal sympathetic paraganglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000489	"A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland.  Clinical symptoms are related to secretion of catecholamines.  Representative examples include the superior and inferior paraaortic and bladder paragangliomas." []	3177126	\N	\N	EFO	5	EFO	material property	extra-adrenal sympathetic paraganglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000489	"A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland.  Clinical symptoms are related to secretion of catecholamines.  Representative examples include the superior and inferior paraaortic and bladder paragangliomas." []	4387602	\N	\N	EFO	6	EFO	experimental factor	extra-adrenal sympathetic paraganglioma
EFO:0000490	\N	\N	"The procedure used to obtain something from a mixture or compound by chemical or physical or mechanical means, e.g. DNA/RNA extraction" []	EFO:0000490	"The procedure used to obtain something from a mixture or compound by chemical or physical or mechanical means, e.g. DNA/RNA extraction" []	64279	\N	\N	EFO	0	EFO	extraction protocol	extraction protocol
OBI:0000272	EFO:0000490	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0000490	"The procedure used to obtain something from a mixture or compound by chemical or physical or mechanical means, e.g. DNA/RNA extraction" []	204744	\N	\N	EFO	1	EFO	protocol	extraction protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000490	"The procedure used to obtain something from a mixture or compound by chemical or physical or mechanical means, e.g. DNA/RNA extraction" []	557812	\N	\N	EFO	2	EFO	information entity	extraction protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000490	"The procedure used to obtain something from a mixture or compound by chemical or physical or mechanical means, e.g. DNA/RNA extraction" []	1140113	\N	\N	EFO	3	EFO	experimental factor	extraction protocol
EFO:0000493	\N	\N	"Family history is a form of clinicaly history specifically about relevant aspects of genetic preconditions or family member's clinical history." []	EFO:0000493	"Family history is a form of clinicaly history specifically about relevant aspects of genetic preconditions or family member's clinical history." []	64280	\N	\N	EFO	0	EFO	family history	family history
EFO:0000352	EFO:0000493	\N	"Is an information entity about the material's (i.e., the patient's) medical record as background information relevant to the experiment." []	EFO:0000493	"Family history is a form of clinicaly history specifically about relevant aspects of genetic preconditions or family member's clinical history." []	204745	\N	\N	EFO	1	EFO	clinical history	family history
IAO:0000030	EFO:0000352	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000493	"Family history is a form of clinicaly history specifically about relevant aspects of genetic preconditions or family member's clinical history." []	557813	\N	\N	EFO	2	EFO	information entity	family history
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000493	"Family history is a form of clinicaly history specifically about relevant aspects of genetic preconditions or family member's clinical history." []	1140114	\N	\N	EFO	3	EFO	experimental factor	family history
EFO:0000494	\N	\N	"The process of obtaining quantifiable values from the scanned image of the array. Exact synonyms: image analysis, image quantification" []	EFO:0000494	"The process of obtaining quantifiable values from the scanned image of the array. Exact synonyms: image analysis, image quantification" []	64281	\N	\N	EFO	0	EFO	feature extraction	feature extraction
OBI:0200000	EFO:0000494	\N	"A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value." []	EFO:0000494	"The process of obtaining quantifiable values from the scanned image of the array. Exact synonyms: image analysis, image quantification" []	204746	\N	\N	EFO	1	EFO	data transformation	feature extraction
EFO:0002694	OBI:0200000	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000494	"The process of obtaining quantifiable values from the scanned image of the array. Exact synonyms: image analysis, image quantification" []	557814	\N	\N	EFO	2	EFO	experimental process	feature extraction
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000494	"The process of obtaining quantifiable values from the scanned image of the array. Exact synonyms: image analysis, image quantification" []	1140115	\N	\N	EFO	3	EFO	planned process	feature extraction
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000494	"The process of obtaining quantifiable values from the scanned image of the array. Exact synonyms: image analysis, image quantification" []	2023142	\N	\N	EFO	4	EFO	process	feature extraction
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000494	"The process of obtaining quantifiable values from the scanned image of the array. Exact synonyms: image analysis, image quantification" []	3177127	\N	\N	EFO	5	EFO	experimental factor	feature extraction
EFO:0000495	\N	\N	"" []	EFO:0000495	"" []	64282	\N	\N	EFO	0	EFO	fetal growth restriction	fetal growth restriction
EFO:0007441	EFO:0000495	\N	"a disease located in the placenta" []	EFO:0000495	"" []	204747	\N	\N	EFO	1	EFO	placenta disease	fetal growth restriction
EFO:0000512	EFO:0007441	\N	"any diease of the reproductive system" []	EFO:0000495	"" []	557815	\N	\N	EFO	2	EFO	reproductive system disease	fetal growth restriction
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000495	"" []	1140116	\N	\N	EFO	3	EFO	disease	fetal growth restriction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000495	"" []	2023143	\N	\N	EFO	4	EFO	disposition	fetal growth restriction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000495	"" []	3177128	\N	\N	EFO	5	EFO	material property	fetal growth restriction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000495	"" []	4387603	\N	\N	EFO	6	EFO	experimental factor	fetal growth restriction
EFO:0000497	\N	\N	"A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." []	EFO:0000497	"A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." []	64283	\N	\N	EFO	0	EFO	fibromatosis	fibromatosis
EFO:0000616	EFO:0000497	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000497	"A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." []	204748	\N	\N	EFO	1	EFO	neoplasm	fibromatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000497	"A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." []	557816	\N	\N	EFO	2	EFO	disease	fibromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000497	"A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." []	1140117	\N	\N	EFO	3	EFO	disposition	fibromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000497	"A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." []	2023144	\N	\N	EFO	4	EFO	material property	fibromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000497	"A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." []	3177129	\N	\N	EFO	5	EFO	experimental factor	fibromatosis
EFO:0000499	\N	\N	"A benign epithelial tumor with a glandular organization." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	64284	\N	\N	EFO	0	EFO	follicular thyroid adenoma	follicular thyroid adenoma
EFO:0000232	EFO:0000499	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	204749	\N	\N	EFO	1	EFO	adenoma	follicular thyroid adenoma
EFO:0003841	EFO:0000499	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	204750	\N	\N	EFO	1	EFO	thyroid neoplasm	follicular thyroid adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	557817	\N	\N	EFO	2	EFO	benign neoplasm	follicular thyroid adenoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	557818	\N	\N	EFO	2	EFO	endocrine neoplasm	follicular thyroid adenoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	557819	\N	\N	EFO	2	EFO	thyroid disease	follicular thyroid adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	1140118	\N	\N	EFO	3	EFO	neoplasm	follicular thyroid adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	1140119	\N	\N	EFO	3	EFO	neoplasm	follicular thyroid adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	1140120	\N	\N	EFO	3	EFO	endocrine system disease	follicular thyroid adenoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	1140121	\N	\N	EFO	3	EFO	endocrine system disease	follicular thyroid adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	2023145	\N	\N	EFO	4	EFO	disease	follicular thyroid adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	2023146	\N	\N	EFO	4	EFO	disease	follicular thyroid adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	3177130	\N	\N	EFO	5	EFO	disposition	follicular thyroid adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	4387604	\N	\N	EFO	6	EFO	material property	follicular thyroid adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000499	"A benign epithelial tumor with a glandular organization." []	5408540	\N	\N	EFO	7	EFO	experimental factor	follicular thyroid adenoma
EFO:0000500	\N	\N	"A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." []	EFO:0000500	"A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." []	64285	\N	\N	EFO	0	EFO	ganglioneuroma	ganglioneuroma
EFO:0000616	EFO:0000500	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000500	"A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." []	204751	\N	\N	EFO	1	EFO	neoplasm	ganglioneuroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000500	"A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." []	557820	\N	\N	EFO	2	EFO	disease	ganglioneuroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000500	"A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." []	1140122	\N	\N	EFO	3	EFO	disposition	ganglioneuroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000500	"A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." []	2023147	\N	\N	EFO	4	EFO	material property	ganglioneuroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000500	"A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." []	3177131	\N	\N	EFO	5	EFO	experimental factor	ganglioneuroma
EFO:0000501	\N	\N	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	64286	\N	\N	EFO	0	EFO	follicular thyroid carcinoma	follicular thyroid carcinoma
EFO:0002892	EFO:0000501	\N	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	204752	\N	\N	EFO	1	EFO	thyroid carcinoma	follicular thyroid carcinoma
EFO:1002017	EFO:0000501	\N	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	204753	\N	\N	EFO	1	EFO	differentiated thyroid carcinoma	follicular thyroid carcinoma
EFO:0000313	EFO:0002892	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	557821	\N	\N	EFO	2	EFO	carcinoma	follicular thyroid carcinoma
EFO:0003841	EFO:0002892	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	557822	\N	\N	EFO	2	EFO	thyroid neoplasm	follicular thyroid carcinoma
EFO:0000313	EFO:1002017	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	557823	\N	\N	EFO	2	EFO	carcinoma	follicular thyroid carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	1140123	\N	\N	EFO	3	EFO	cancer	follicular thyroid carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	1140124	\N	\N	EFO	3	EFO	epithelial neoplasm	follicular thyroid carcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	1140125	\N	\N	EFO	3	EFO	endocrine neoplasm	follicular thyroid carcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	1140126	\N	\N	EFO	3	EFO	thyroid disease	follicular thyroid carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	2023148	\N	\N	EFO	4	EFO	neoplasm	follicular thyroid carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	2023149	\N	\N	EFO	4	EFO	neoplasm	follicular thyroid carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	2023150	\N	\N	EFO	4	EFO	neoplasm	follicular thyroid carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	2023151	\N	\N	EFO	4	EFO	endocrine system disease	follicular thyroid carcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	2023152	\N	\N	EFO	4	EFO	endocrine system disease	follicular thyroid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	3177132	\N	\N	EFO	5	EFO	disease	follicular thyroid carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	3177133	\N	\N	EFO	5	EFO	disease	follicular thyroid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	4387605	\N	\N	EFO	6	EFO	disposition	follicular thyroid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	5408541	\N	\N	EFO	7	EFO	material property	follicular thyroid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000501	"An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)" []	6147410	\N	\N	EFO	8	EFO	experimental factor	follicular thyroid carcinoma
EFO:0000502	\N	\N	"A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume.  There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." []	EFO:0000502	"A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume.  There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." []	64287	\N	\N	EFO	0	EFO	ganglioneuroblastoma	ganglioneuroblastoma
EFO:0000616	EFO:0000502	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000502	"A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume.  There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." []	204754	\N	\N	EFO	1	EFO	neoplasm	ganglioneuroblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000502	"A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume.  There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." []	557824	\N	\N	EFO	2	EFO	disease	ganglioneuroblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000502	"A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume.  There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." []	1140127	\N	\N	EFO	3	EFO	disposition	ganglioneuroblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000502	"A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume.  There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." []	2023153	\N	\N	EFO	4	EFO	material property	ganglioneuroblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000502	"A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume.  There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." []	3177134	\N	\N	EFO	5	EFO	experimental factor	ganglioneuroblastoma
EFO:0000503	\N	\N	"curative" []	EFO:0000503	"curative" []	64288	\N	\N	EFO	0	EFO	gastric adenocarcinoma	gastric adenocarcinoma
EFO:0000228	EFO:0000503	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0000503	"curative" []	204755	\N	\N	EFO	1	EFO	adenocarcinoma	gastric adenocarcinoma
EFO:0003897	EFO:0000503	\N	"Tumors or cancer of the STOMACH." []	EFO:0000503	"curative" []	204756	\N	\N	EFO	1	EFO	stomach neoplasm	gastric adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000503	"curative" []	557825	\N	\N	EFO	2	EFO	carcinoma	gastric adenocarcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000503	"curative" []	557826	\N	\N	EFO	2	EFO	digestive system disease	gastric adenocarcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000503	"curative" []	557827	\N	\N	EFO	2	EFO	neoplasm	gastric adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000503	"curative" []	1140128	\N	\N	EFO	3	EFO	cancer	gastric adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000503	"curative" []	1140129	\N	\N	EFO	3	EFO	epithelial neoplasm	gastric adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000503	"curative" []	1140130	\N	\N	EFO	3	EFO	disease	gastric adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000503	"curative" []	3177135	\N	\N	EFO	5	EFO	disease	gastric adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000503	"curative" []	2023154	\N	\N	EFO	4	EFO	neoplasm	gastric adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000503	"curative" []	2023155	\N	\N	EFO	4	EFO	neoplasm	gastric adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000503	"curative" []	4066666	\N	\N	EFO	6	EFO	disposition	gastric adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000503	"curative" []	5059304	\N	\N	EFO	7	EFO	material property	gastric adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000503	"curative" []	5876518	\N	\N	EFO	8	EFO	experimental factor	gastric adenocarcinoma
EFO:0000504	\N	\N	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	64289	\N	\N	EFO	0	EFO	gastric intestinal type adenocarcinoma	gastric intestinal type adenocarcinoma
EFO:0000228	EFO:0000504	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	204757	\N	\N	EFO	1	EFO	adenocarcinoma	gastric intestinal type adenocarcinoma
EFO:0003897	EFO:0000504	\N	"Tumors or cancer of the STOMACH." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	204758	\N	\N	EFO	1	EFO	stomach neoplasm	gastric intestinal type adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	557828	\N	\N	EFO	2	EFO	carcinoma	gastric intestinal type adenocarcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	557829	\N	\N	EFO	2	EFO	digestive system disease	gastric intestinal type adenocarcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	557830	\N	\N	EFO	2	EFO	neoplasm	gastric intestinal type adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	1140132	\N	\N	EFO	3	EFO	cancer	gastric intestinal type adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	1140133	\N	\N	EFO	3	EFO	epithelial neoplasm	gastric intestinal type adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	1140134	\N	\N	EFO	3	EFO	disease	gastric intestinal type adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	3177137	\N	\N	EFO	5	EFO	disease	gastric intestinal type adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	2023157	\N	\N	EFO	4	EFO	neoplasm	gastric intestinal type adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	2023158	\N	\N	EFO	4	EFO	neoplasm	gastric intestinal type adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	4066667	\N	\N	EFO	6	EFO	disposition	gastric intestinal type adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	5059305	\N	\N	EFO	7	EFO	material property	gastric intestinal type adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000504	"An adenocarcinoma of the stomach arising on a background of intestinal metaplasia.  Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma.  Grossly, it tends to be nodular, polypoid or ulcerated." []	5876519	\N	\N	EFO	8	EFO	experimental factor	gastric intestinal type adenocarcinoma
EFO:0000506	\N	\N	"" []	EFO:0000506	"" []	64290	\N	\N	EFO	0	EFO	gene knock out	gene knock out
EFO:0000510	EFO:0000506	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0000506	"" []	204759	\N	\N	EFO	1	EFO	genetic modification	gene knock out
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000506	"" []	557831	\N	\N	EFO	2	EFO	experimental process	gene knock out
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000506	"" []	1140136	\N	\N	EFO	3	EFO	planned process	gene knock out
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000506	"" []	2023160	\N	\N	EFO	4	EFO	process	gene knock out
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000506	"" []	3177139	\N	\N	EFO	5	EFO	experimental factor	gene knock out
EFO:0000507	\N	\N	"The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations." []	EFO:0000507	"The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations." []	64291	\N	\N	EFO	0	EFO	generation	generation
BFO:0000019	EFO:0000507	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0000507	"The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations." []	204760	\N	\N	EFO	1	EFO	quality	generation
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000507	"The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations." []	557832	\N	\N	EFO	2	EFO	material property	generation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000507	"The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations." []	1140137	\N	\N	EFO	3	EFO	experimental factor	generation
EFO:0000508	\N	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0000508	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	64292	\N	\N	EFO	0	EFO	genetic disorder	genetic disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000508	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	204761	\N	\N	EFO	1	EFO	disease	genetic disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000508	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	557833	\N	\N	EFO	2	EFO	disposition	genetic disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000508	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	1140138	\N	\N	EFO	3	EFO	material property	genetic disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000508	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	2023161	\N	\N	EFO	4	EFO	experimental factor	genetic disorder
EFO:0000510	\N	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0000510	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	64293	\N	\N	EFO	0	EFO	genetic modification	genetic modification
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000510	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	204762	\N	\N	EFO	1	EFO	experimental process	genetic modification
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000510	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	557834	\N	\N	EFO	2	EFO	planned process	genetic modification
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000510	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	1140139	\N	\N	EFO	3	EFO	process	genetic modification
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000510	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	2023162	\N	\N	EFO	4	EFO	experimental factor	genetic modification
EFO:0000511	\N	\N	"Genetic traits are small inherited parts of the phenotype of an organism" []	EFO:0000511	"Genetic traits are small inherited parts of the phenotype of an organism" []	64294	\N	\N	EFO	0	EFO	genetic trait	genetic trait
BFO:0000019	EFO:0000511	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0000511	"Genetic traits are small inherited parts of the phenotype of an organism" []	204763	\N	\N	EFO	1	EFO	quality	genetic trait
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000511	"Genetic traits are small inherited parts of the phenotype of an organism" []	557835	\N	\N	EFO	2	EFO	material property	genetic trait
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000511	"Genetic traits are small inherited parts of the phenotype of an organism" []	1140140	\N	\N	EFO	3	EFO	experimental factor	genetic trait
EFO:0000512	\N	\N	"any diease of the reproductive system" []	EFO:0000512	"any diease of the reproductive system" []	64295	\N	\N	EFO	0	EFO	reproductive system disease	reproductive system disease
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000512	"any diease of the reproductive system" []	204764	\N	\N	EFO	1	EFO	disease	reproductive system disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000512	"any diease of the reproductive system" []	557836	\N	\N	EFO	2	EFO	disposition	reproductive system disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000512	"any diease of the reproductive system" []	1140141	\N	\N	EFO	3	EFO	material property	reproductive system disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000512	"any diease of the reproductive system" []	2023163	\N	\N	EFO	4	EFO	experimental factor	reproductive system disease
EFO:0000513	\N	\N	"The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment." []	EFO:0000513	"The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment." []	64296	\N	\N	EFO	0	EFO	genotype	genotype
EFO:0004554	EFO:0000513	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0000513	"The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment." []	204765	\N	\N	EFO	1	EFO	genomic measurement	genotype
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000513	"The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment." []	557837	\N	\N	EFO	2	EFO	measurement	genotype
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000513	"The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment." []	1140142	\N	\N	EFO	3	EFO	information entity	genotype
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000513	"The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment." []	2023164	\N	\N	EFO	4	EFO	experimental factor	genotype
EFO:0000514	\N	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:0000514	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	64297	\N	\N	EFO	0	EFO	germ cell tumor	germ cell tumor
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000514	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	204766	\N	\N	EFO	1	EFO	neoplasm	germ cell tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000514	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	557838	\N	\N	EFO	2	EFO	disease	germ cell tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000514	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	1140143	\N	\N	EFO	3	EFO	disposition	germ cell tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000514	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	2023165	\N	\N	EFO	4	EFO	material property	germ cell tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000514	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	3177140	\N	\N	EFO	5	EFO	experimental factor	germ cell tumor
EFO:0000516	\N	\N	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	EFO:0000516	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	64298	\N	\N	EFO	0	EFO	glaucoma	glaucoma
EFO:0001058	EFO:0000516	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0000516	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	204767	\N	\N	EFO	1	EFO	sensory system disease	glaucoma
EFO:0003966	EFO:0000516	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0000516	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	204768	\N	\N	EFO	1	EFO	eye disease	glaucoma
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000516	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	557839	\N	\N	EFO	2	EFO	nervous system disease	glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000516	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	557840	\N	\N	EFO	2	EFO	disease	glaucoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000516	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	1140144	\N	\N	EFO	3	EFO	disease	glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000516	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	2023166	\N	\N	EFO	4	EFO	disposition	glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000516	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	2999236	\N	\N	EFO	5	EFO	material property	glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000516	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	4132538	\N	\N	EFO	6	EFO	experimental factor	glaucoma
EFO:0000519	\N	\N	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	64299	\N	\N	EFO	0	EFO	glioblastoma multiforme	glioblastoma multiforme
EFO:0000272	EFO:0000519	\N	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	204769	\N	\N	EFO	1	EFO	astrocytoma	glioblastoma multiforme
EFO:0005543	EFO:0000272	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	557841	\N	\N	EFO	2	EFO	glioma	glioblastoma multiforme
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	1140146	\N	\N	EFO	3	EFO	central nervous system cancer	glioblastoma multiforme
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	1140147	\N	\N	EFO	3	EFO	brain neoplasm	glioblastoma multiforme
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	2023168	\N	\N	EFO	4	EFO	cancer	glioblastoma multiforme
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	2023169	\N	\N	EFO	4	EFO	nervous system disease	glioblastoma multiforme
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	2023170	\N	\N	EFO	4	EFO	neoplasm	glioblastoma multiforme
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	2023171	\N	\N	EFO	4	EFO	brain disease	glioblastoma multiforme
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	3177142	\N	\N	EFO	5	EFO	neoplasm	glioblastoma multiforme
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	4387610	\N	\N	EFO	6	EFO	disease	glioblastoma multiforme
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	4387608	\N	\N	EFO	6	EFO	disease	glioblastoma multiforme
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	3177145	\N	\N	EFO	5	EFO	nervous system disease	glioblastoma multiforme
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	5180897	\N	\N	EFO	7	EFO	disposition	glioblastoma multiforme
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	5996560	\N	\N	EFO	8	EFO	material property	glioblastoma multiforme
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000519	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	6550358	\N	\N	EFO	9	EFO	experimental factor	glioblastoma multiforme
EFO:0000523	\N	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0000523	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	64300	\N	\N	EFO	0	EFO	growth condition	growth condition
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0000523	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	204770	\N	\N	EFO	1	EFO	biological role	growth condition
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0000523	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	557842	\N	\N	EFO	2	EFO	role	growth condition
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000523	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	1140148	\N	\N	EFO	3	EFO	material property	growth condition
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000523	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	2023172	\N	\N	EFO	4	EFO	experimental factor	growth condition
EFO:0000524	\N	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0000524	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	64301	\N	\N	EFO	0	EFO	head disease	head disease
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000524	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	204771	\N	\N	EFO	1	EFO	disease	head disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000524	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	557843	\N	\N	EFO	2	EFO	disposition	head disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000524	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	1140149	\N	\N	EFO	3	EFO	material property	head disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000524	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	2023173	\N	\N	EFO	4	EFO	experimental factor	head disease
EFO:0000532	\N	\N	"An animal or plant or part thereof that nourishes and supports a parasite either in a lab or natural environment." []	EFO:0000532	"An animal or plant or part thereof that nourishes and supports a parasite either in a lab or natural environment." []	64302	\N	\N	EFO	0	EFO	host	host
CHEBI:24432	EFO:0000532	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0000532	"An animal or plant or part thereof that nourishes and supports a parasite either in a lab or natural environment." []	204772	\N	\N	EFO	1	EFO	biological role	host
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0000532	"An animal or plant or part thereof that nourishes and supports a parasite either in a lab or natural environment." []	557844	\N	\N	EFO	2	EFO	role	host
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000532	"An animal or plant or part thereof that nourishes and supports a parasite either in a lab or natural environment." []	1140150	\N	\N	EFO	3	EFO	material property	host
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000532	"An animal or plant or part thereof that nourishes and supports a parasite either in a lab or natural environment." []	2023174	\N	\N	EFO	4	EFO	experimental factor	host
EFO:0000534	\N	\N	"The pressure exerted by a liquid as a result of its potential energy, ignoring its kinetic energy." []	EFO:0000534	"The pressure exerted by a liquid as a result of its potential energy, ignoring its kinetic energy." []	64303	\N	\N	EFO	0	EFO	hydrostatic pressure	hydrostatic pressure
EFO:0000469	EFO:0000534	\N	"The external elements and conditions which surround, influence, and affect the life and development of an organism or population." []	EFO:0000534	"The pressure exerted by a liquid as a result of its potential energy, ignoring its kinetic energy." []	204773	\N	\N	EFO	1	EFO	environmental factor	hydrostatic pressure
BFO:0000040	EFO:0000469	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000534	"The pressure exerted by a liquid as a result of its potential energy, ignoring its kinetic energy." []	557845	\N	\N	EFO	2	EFO	material entity	hydrostatic pressure
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000534	"The pressure exerted by a liquid as a result of its potential energy, ignoring its kinetic energy." []	1140151	\N	\N	EFO	3	EFO	experimental factor	hydrostatic pressure
EFO:0000536	\N	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:0000536	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	64304	\N	\N	EFO	0	EFO	hyperplasia	hyperplasia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000536	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	204774	\N	\N	EFO	1	EFO	disease	hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000536	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	557846	\N	\N	EFO	2	EFO	disposition	hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000536	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	1140152	\N	\N	EFO	3	EFO	material property	hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000536	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	2023175	\N	\N	EFO	4	EFO	experimental factor	hyperplasia
EFO:0000537	\N	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:0000537	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	64305	\N	\N	EFO	0	EFO	hypertension	hypertension
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000537	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	204775	\N	\N	EFO	1	EFO	cardiovascular disease	hypertension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000537	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	557847	\N	\N	EFO	2	EFO	disease	hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000537	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	1140153	\N	\N	EFO	3	EFO	disposition	hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000537	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	2023176	\N	\N	EFO	4	EFO	material property	hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000537	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	3177146	\N	\N	EFO	5	EFO	experimental factor	hypertension
EFO:0000538	\N	\N	"A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)." []	EFO:0000538	"A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)." []	64306	\N	\N	EFO	0	EFO	hypertrophic cardiomyopathy	hypertrophic cardiomyopathy
EFO:0000318	EFO:0000538	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:0000538	"A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)." []	204776	\N	\N	EFO	1	EFO	cardiomyopathy	hypertrophic cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0000538	"A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)." []	557848	\N	\N	EFO	2	EFO	heart disease	hypertrophic cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000538	"A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)." []	1140154	\N	\N	EFO	3	EFO	cardiovascular disease	hypertrophic cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000538	"A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)." []	2023177	\N	\N	EFO	4	EFO	disease	hypertrophic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000538	"A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)." []	3177147	\N	\N	EFO	5	EFO	disposition	hypertrophic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000538	"A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)." []	4387611	\N	\N	EFO	6	EFO	material property	hypertrophic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000538	"A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)." []	5408543	\N	\N	EFO	7	EFO	experimental factor	hypertrophic cardiomyopathy
EFO:0000540	\N	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000540	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	64307	\N	\N	EFO	0	EFO	immune system disease	immune system disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000540	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	204777	\N	\N	EFO	1	EFO	disease	immune system disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000540	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	557849	\N	\N	EFO	2	EFO	disposition	immune system disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000540	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	1140155	\N	\N	EFO	3	EFO	material property	immune system disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000540	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	2023178	\N	\N	EFO	4	EFO	experimental factor	immune system disease
EFO:0000541	\N	\N	"The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." []	EFO:0000541	"The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." []	64308	\N	\N	EFO	0	EFO	immunoprecipitate	immunoprecipitate
CHEBI:37577	EFO:0000541	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0000541	"The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." []	204778	\N	\N	EFO	1	EFO	chemical compound	immunoprecipitate
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0000541	"The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." []	557850	\N	\N	EFO	2	EFO	chemical entity	immunoprecipitate
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000541	"The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." []	1140156	\N	\N	EFO	3	EFO	material entity	immunoprecipitate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000541	"The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." []	2023179	\N	\N	EFO	4	EFO	experimental factor	immunoprecipitate
EFO:0000542	\N	\N	"An individual used a specimen in an experiment, from which a material sample was derived." []	EFO:0000542	"An individual used a specimen in an experiment, from which a material sample was derived." []	64309	\N	\N	EFO	0	EFO	individual	individual
OBI:0100051	EFO:0000542	\N	"A material which is obtained and stored for potential use during an investigation." []	EFO:0000542	"An individual used a specimen in an experiment, from which a material sample was derived." []	204779	\N	\N	EFO	1	EFO	specimen	individual
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000542	"An individual used a specimen in an experiment, from which a material sample was derived." []	557851	\N	\N	EFO	2	EFO	material entity	individual
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000542	"An individual used a specimen in an experiment, from which a material sample was derived." []	1140157	\N	\N	EFO	3	EFO	experimental factor	individual
EFO:0000544	\N	\N	"The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism." []	EFO:0000544	"The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism." []	64310	\N	\N	EFO	0	EFO	infection	infection
OBI:1110122	EFO:0000544	\N	"Abnormal, harmful processes caused by or associated with a disease" []	EFO:0000544	"The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism." []	204780	\N	\N	EFO	1	EFO	pathological process	infection
EFO:0000545	\N	\N	"Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility." []	EFO:0000545	"Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility." []	64311	\N	\N	EFO	0	EFO	infertility	infertility
EFO:0000512	EFO:0000545	\N	"any diease of the reproductive system" []	EFO:0000545	"Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility." []	204781	\N	\N	EFO	1	EFO	reproductive system disease	infertility
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000545	"Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility." []	557852	\N	\N	EFO	2	EFO	disease	infertility
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000545	"Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility." []	1140158	\N	\N	EFO	3	EFO	disposition	infertility
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000545	"Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility." []	2023180	\N	\N	EFO	4	EFO	material property	infertility
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000545	"Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility." []	3177148	\N	\N	EFO	5	EFO	experimental factor	infertility
EFO:0000546	\N	\N	"Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." []	EFO:0000546	"Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." []	64312	\N	\N	EFO	0	EFO	injury	injury
BFO:0000016	EFO:0000546	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000546	"Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." []	204782	\N	\N	EFO	1	EFO	disposition	injury
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000546	"Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." []	557853	\N	\N	EFO	2	EFO	material property	injury
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000546	"Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." []	1140159	\N	\N	EFO	3	EFO	experimental factor	injury
EFO:0000548	\N	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0000548	"An instrument is a device which provides a mechanical or electronic function." []	64313	\N	\N	EFO	0	EFO	instrument	instrument
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000548	"An instrument is a device which provides a mechanical or electronic function." []	204783	\N	\N	EFO	1	EFO	material entity	instrument
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000548	"An instrument is a device which provides a mechanical or electronic function." []	557854	\N	\N	EFO	2	EFO	experimental factor	instrument
EFO:0000549	\N	\N	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	EFO:0000549	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	64314	\N	\N	EFO	0	EFO	insulinoma	insulinoma
EFO:0002422	EFO:0000549	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0000549	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	204784	\N	\N	EFO	1	EFO	benign neoplasm	insulinoma
EFO:0003860	EFO:0000549	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:0000549	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	204785	\N	\N	EFO	1	EFO	pancreatic neoplasm	insulinoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000549	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	557855	\N	\N	EFO	2	EFO	neoplasm	insulinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0000549	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	557856	\N	\N	EFO	2	EFO	endocrine neoplasm	insulinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000549	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	2023182	\N	\N	EFO	4	EFO	disease	insulinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000549	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	1140161	\N	\N	EFO	3	EFO	neoplasm	insulinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000549	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	1140162	\N	\N	EFO	3	EFO	endocrine system disease	insulinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000549	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	2999237	\N	\N	EFO	5	EFO	disposition	insulinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000549	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	2023183	\N	\N	EFO	4	EFO	disease	insulinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000549	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	4132539	\N	\N	EFO	6	EFO	material property	insulinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000549	"A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." []	5180898	\N	\N	EFO	7	EFO	experimental factor	insulinoma
EFO:0000551	\N	\N	"Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." []	EFO:0000551	"Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." []	64315	\N	\N	EFO	0	EFO	intracranial hemorrhage NOS	intracranial hemorrhage NOS
EFO:0003763	EFO:0000551	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0000551	"Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." []	204786	\N	\N	EFO	1	EFO	cerebrovascular disorder	intracranial hemorrhage NOS
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0000551	"Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." []	557857	\N	\N	EFO	2	EFO	vascular disease	intracranial hemorrhage NOS
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000551	"Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." []	1140163	\N	\N	EFO	3	EFO	cardiovascular disease	intracranial hemorrhage NOS
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000551	"Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." []	2023184	\N	\N	EFO	4	EFO	disease	intracranial hemorrhage NOS
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000551	"Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." []	3177150	\N	\N	EFO	5	EFO	disposition	intracranial hemorrhage NOS
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000551	"Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." []	4387613	\N	\N	EFO	6	EFO	material property	intracranial hemorrhage NOS
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000551	"Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." []	5408544	\N	\N	EFO	7	EFO	experimental factor	intracranial hemorrhage NOS
EFO:0000552	\N	\N	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	EFO:0000552	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	64316	\N	\N	EFO	0	EFO	invasive ductal and lobular carcinoma	invasive ductal and lobular carcinoma
EFO:0000186	EFO:0000552	\N	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	EFO:0000552	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	204787	\N	\N	EFO	1	EFO	invasive ductal carcinoma	invasive ductal and lobular carcinoma
EFO:0000305	EFO:0000186	\N	"Tumors or cancer of the human BREAST." []	EFO:0000552	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	557858	\N	\N	EFO	2	EFO	breast carcinoma	invasive ductal and lobular carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000552	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	1140164	\N	\N	EFO	3	EFO	carcinoma	invasive ductal and lobular carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000552	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	2023185	\N	\N	EFO	4	EFO	cancer	invasive ductal and lobular carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000552	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	2023186	\N	\N	EFO	4	EFO	epithelial neoplasm	invasive ductal and lobular carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000552	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	3177151	\N	\N	EFO	5	EFO	neoplasm	invasive ductal and lobular carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000552	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	3177152	\N	\N	EFO	5	EFO	neoplasm	invasive ductal and lobular carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000552	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	4387614	\N	\N	EFO	6	EFO	disease	invasive ductal and lobular carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000552	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	5408545	\N	\N	EFO	7	EFO	disposition	invasive ductal and lobular carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000552	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	6147412	\N	\N	EFO	8	EFO	material property	invasive ductal and lobular carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000552	"An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." []	6631851	\N	\N	EFO	9	EFO	experimental factor	invasive ductal and lobular carcinoma
EFO:0000553	\N	\N	"An infiltrating lobular adenocarcinoma.  The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma.  The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." []	EFO:0000553	"An infiltrating lobular adenocarcinoma.  The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma.  The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." []	64317	\N	\N	EFO	0	EFO	invasive lobular carcinoma	invasive lobular carcinoma
EFO:0000305	EFO:0000553	\N	"Tumors or cancer of the human BREAST." []	EFO:0000553	"An infiltrating lobular adenocarcinoma.  The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma.  The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." []	204788	\N	\N	EFO	1	EFO	breast carcinoma	invasive lobular carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000553	"An infiltrating lobular adenocarcinoma.  The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma.  The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." []	557859	\N	\N	EFO	2	EFO	carcinoma	invasive lobular carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000553	"An infiltrating lobular adenocarcinoma.  The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma.  The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." []	1140165	\N	\N	EFO	3	EFO	cancer	invasive lobular carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000553	"An infiltrating lobular adenocarcinoma.  The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma.  The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." []	1140166	\N	\N	EFO	3	EFO	epithelial neoplasm	invasive lobular carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000553	"An infiltrating lobular adenocarcinoma.  The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma.  The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." []	2023187	\N	\N	EFO	4	EFO	neoplasm	invasive lobular carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000553	"An infiltrating lobular adenocarcinoma.  The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma.  The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." []	2023188	\N	\N	EFO	4	EFO	neoplasm	invasive lobular carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000553	"An infiltrating lobular adenocarcinoma.  The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma.  The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." []	3177153	\N	\N	EFO	5	EFO	disease	invasive lobular carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000553	"An infiltrating lobular adenocarcinoma.  The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma.  The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." []	4387615	\N	\N	EFO	6	EFO	disposition	invasive lobular carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000553	"An infiltrating lobular adenocarcinoma.  The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma.  The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." []	5408546	\N	\N	EFO	7	EFO	material property	invasive lobular carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000553	"An infiltrating lobular adenocarcinoma.  The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma.  The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." []	6147413	\N	\N	EFO	8	EFO	experimental factor	invasive lobular carcinoma
EFO:0000554	\N	\N	"The process of treating a material with radiation" []	EFO:0000554	"The process of treating a material with radiation" []	64318	\N	\N	EFO	0	EFO	irradiate	irradiate
EFO:0002694	EFO:0000554	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000554	"The process of treating a material with radiation" []	204789	\N	\N	EFO	1	EFO	experimental process	irradiate
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000554	"The process of treating a material with radiation" []	557860	\N	\N	EFO	2	EFO	planned process	irradiate
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000554	"The process of treating a material with radiation" []	1140167	\N	\N	EFO	3	EFO	process	irradiate
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000554	"The process of treating a material with radiation" []	2023189	\N	\N	EFO	4	EFO	experimental factor	irradiate
EFO:0000555	\N	\N	"A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause." []	EFO:0000555	"A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause." []	64319	\N	\N	EFO	0	EFO	irritable bowel syndrome	irritable bowel syndrome
EFO:0000405	EFO:0000555	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000555	"A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause." []	204790	\N	\N	EFO	1	EFO	digestive system disease	irritable bowel syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000555	"A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause." []	557861	\N	\N	EFO	2	EFO	disease	irritable bowel syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000555	"A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause." []	1140168	\N	\N	EFO	3	EFO	disposition	irritable bowel syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000555	"A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause." []	2023190	\N	\N	EFO	4	EFO	material property	irritable bowel syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000555	"A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause." []	3177154	\N	\N	EFO	5	EFO	experimental factor	irritable bowel syndrome
EFO:0000556	\N	\N	"A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION." []	EFO:0000556	"A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION." []	64320	\N	\N	EFO	0	EFO	ischemia	ischemia
HP:0001626	\N	\N	"Any abnormality of the cardiovascular system." [HPO:probinson]	EFO:0000556	"A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION." []	194432	\N	\N	EFO	0	EFO	Abnormality of the cardiovascular system	ischemia
EFO:0000557	\N	\N	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	EFO:0000557	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	64321	\N	\N	EFO	0	EFO	juvenile dermatomyositis	juvenile dermatomyositis
EFO:0000398	EFO:0000557	\N	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	EFO:0000557	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	204791	\N	\N	EFO	1	EFO	dermatomyositis	juvenile dermatomyositis
EFO:0000701	EFO:0000398	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0000557	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	557862	\N	\N	EFO	2	EFO	skin disease	juvenile dermatomyositis
EFO:0000783	EFO:0000398	\N	"Inflammation of a muscle or muscle tissue." []	EFO:0000557	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	557863	\N	\N	EFO	2	EFO	myositis	juvenile dermatomyositis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000557	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	1140169	\N	\N	EFO	3	EFO	disease	juvenile dermatomyositis
EFO:0000540	EFO:0000783	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000557	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	1140170	\N	\N	EFO	3	EFO	immune system disease	juvenile dermatomyositis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000557	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	3177156	\N	\N	EFO	5	EFO	disposition	juvenile dermatomyositis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000557	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	2023192	\N	\N	EFO	4	EFO	disease	juvenile dermatomyositis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000557	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	4132540	\N	\N	EFO	6	EFO	material property	juvenile dermatomyositis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000557	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	5180899	\N	\N	EFO	7	EFO	experimental factor	juvenile dermatomyositis
EFO:0000558	\N	\N	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	EFO:0000558	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	64322	\N	\N	EFO	0	EFO	Kaposi's sarcoma	Kaposi's sarcoma
EFO:0000691	EFO:0000558	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000558	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	204792	\N	\N	EFO	1	EFO	sarcoma	Kaposi's sarcoma
EFO:0004198	EFO:0000558	\N	"Tumors or cancer of the SKIN." []	EFO:0000558	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	204793	\N	\N	EFO	1	EFO	skin neoplasm	Kaposi's sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000558	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	557864	\N	\N	EFO	2	EFO	cancer	Kaposi's sarcoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000558	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	557865	\N	\N	EFO	2	EFO	neoplasm	Kaposi's sarcoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0000558	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	557866	\N	\N	EFO	2	EFO	skin disease	Kaposi's sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000558	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	1140171	\N	\N	EFO	3	EFO	neoplasm	Kaposi's sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000558	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	2023193	\N	\N	EFO	4	EFO	disease	Kaposi's sarcoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000558	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	1140173	\N	\N	EFO	3	EFO	disease	Kaposi's sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000558	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	2999238	\N	\N	EFO	5	EFO	disposition	Kaposi's sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000558	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	4132541	\N	\N	EFO	6	EFO	material property	Kaposi's sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000558	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	5180900	\N	\N	EFO	7	EFO	experimental factor	Kaposi's sarcoma
EFO:0000559	\N	\N	"Squamous cell carcinomas with morphologically prominent production of keratin." []	EFO:0000559	"Squamous cell carcinomas with morphologically prominent production of keratin." []	64323	\N	\N	EFO	0	EFO	keratinizing squamous cell carcinoma	keratinizing squamous cell carcinoma
EFO:0000707	EFO:0000559	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:0000559	"Squamous cell carcinomas with morphologically prominent production of keratin." []	204794	\N	\N	EFO	1	EFO	squamous cell carcinoma	keratinizing squamous cell carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000559	"Squamous cell carcinomas with morphologically prominent production of keratin." []	557867	\N	\N	EFO	2	EFO	carcinoma	keratinizing squamous cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000559	"Squamous cell carcinomas with morphologically prominent production of keratin." []	1140174	\N	\N	EFO	3	EFO	cancer	keratinizing squamous cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000559	"Squamous cell carcinomas with morphologically prominent production of keratin." []	1140175	\N	\N	EFO	3	EFO	epithelial neoplasm	keratinizing squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000559	"Squamous cell carcinomas with morphologically prominent production of keratin." []	2023195	\N	\N	EFO	4	EFO	neoplasm	keratinizing squamous cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000559	"Squamous cell carcinomas with morphologically prominent production of keratin." []	2023196	\N	\N	EFO	4	EFO	neoplasm	keratinizing squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000559	"Squamous cell carcinomas with morphologically prominent production of keratin." []	3177158	\N	\N	EFO	5	EFO	disease	keratinizing squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000559	"Squamous cell carcinomas with morphologically prominent production of keratin." []	4387618	\N	\N	EFO	6	EFO	disposition	keratinizing squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000559	"Squamous cell carcinomas with morphologically prominent production of keratin." []	5408547	\N	\N	EFO	7	EFO	material property	keratinizing squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000559	"Squamous cell carcinomas with morphologically prominent production of keratin." []	6147414	\N	\N	EFO	8	EFO	experimental factor	keratinizing squamous cell carcinoma
EFO:0000561	\N	\N	"Knock in expression is a process in which a gene is replaced by an altered version of the same gene using homologous recombination resulting in a gain of function." []	EFO:0000561	"Knock in expression is a process in which a gene is replaced by an altered version of the same gene using homologous recombination resulting in a gain of function." []	64324	\N	\N	EFO	0	EFO	knock in expression	knock in expression
EFO:0002694	EFO:0000561	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000561	"Knock in expression is a process in which a gene is replaced by an altered version of the same gene using homologous recombination resulting in a gain of function." []	204795	\N	\N	EFO	1	EFO	experimental process	knock in expression
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000561	"Knock in expression is a process in which a gene is replaced by an altered version of the same gene using homologous recombination resulting in a gain of function." []	557868	\N	\N	EFO	2	EFO	planned process	knock in expression
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000561	"Knock in expression is a process in which a gene is replaced by an altered version of the same gene using homologous recombination resulting in a gain of function." []	1140176	\N	\N	EFO	3	EFO	process	knock in expression
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000561	"Knock in expression is a process in which a gene is replaced by an altered version of the same gene using homologous recombination resulting in a gain of function." []	2023197	\N	\N	EFO	4	EFO	experimental factor	knock in expression
EFO:0000562	\N	\N	"The process of marking a material in some way for experimental purposes. E.g. the labelling of  a nucleic acid with biotin in a microarray experiment" []	EFO:0000562	"The process of marking a material in some way for experimental purposes. E.g. the labelling of  a nucleic acid with biotin in a microarray experiment" []	64325	\N	\N	EFO	0	EFO	labelling	labelling
EFO:0002694	EFO:0000562	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000562	"The process of marking a material in some way for experimental purposes. E.g. the labelling of  a nucleic acid with biotin in a microarray experiment" []	204796	\N	\N	EFO	1	EFO	experimental process	labelling
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000562	"The process of marking a material in some way for experimental purposes. E.g. the labelling of  a nucleic acid with biotin in a microarray experiment" []	557869	\N	\N	EFO	2	EFO	planned process	labelling
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000562	"The process of marking a material in some way for experimental purposes. E.g. the labelling of  a nucleic acid with biotin in a microarray experiment" []	1140177	\N	\N	EFO	3	EFO	process	labelling
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000562	"The process of marking a material in some way for experimental purposes. E.g. the labelling of  a nucleic acid with biotin in a microarray experiment" []	2023198	\N	\N	EFO	4	EFO	experimental factor	labelling
EFO:0000563	\N	\N	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	64326	\N	\N	EFO	0	EFO	large cell neuroendocrine carcinoma	large cell neuroendocrine carcinoma
EFO:0000313	EFO:0000563	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	204797	\N	\N	EFO	1	EFO	carcinoma	large cell neuroendocrine carcinoma
EFO:0003769	EFO:0000563	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	204798	\N	\N	EFO	1	EFO	endocrine neoplasm	large cell neuroendocrine carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	557870	\N	\N	EFO	2	EFO	cancer	large cell neuroendocrine carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	557871	\N	\N	EFO	2	EFO	epithelial neoplasm	large cell neuroendocrine carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	557872	\N	\N	EFO	2	EFO	neoplasm	large cell neuroendocrine carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	557873	\N	\N	EFO	2	EFO	endocrine system disease	large cell neuroendocrine carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	1140178	\N	\N	EFO	3	EFO	neoplasm	large cell neuroendocrine carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	1140179	\N	\N	EFO	3	EFO	neoplasm	large cell neuroendocrine carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	2023199	\N	\N	EFO	4	EFO	disease	large cell neuroendocrine carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	1140181	\N	\N	EFO	3	EFO	disease	large cell neuroendocrine carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	2999239	\N	\N	EFO	5	EFO	disposition	large cell neuroendocrine carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	4132542	\N	\N	EFO	6	EFO	material property	large cell neuroendocrine carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000563	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	5180901	\N	\N	EFO	7	EFO	experimental factor	large cell neuroendocrine carcinoma
EFO:0000564	\N	\N	"An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women.  It is characterized by a proliferation of neoplastic spindle cells.  Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." []	EFO:0000564	"An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women.  It is characterized by a proliferation of neoplastic spindle cells.  Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." []	64327	\N	\N	EFO	0	EFO	leiomyosarcoma	leiomyosarcoma
EFO:0000691	EFO:0000564	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000564	"An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women.  It is characterized by a proliferation of neoplastic spindle cells.  Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." []	204799	\N	\N	EFO	1	EFO	sarcoma	leiomyosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000564	"An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women.  It is characterized by a proliferation of neoplastic spindle cells.  Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." []	557874	\N	\N	EFO	2	EFO	cancer	leiomyosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000564	"An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women.  It is characterized by a proliferation of neoplastic spindle cells.  Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." []	1140182	\N	\N	EFO	3	EFO	neoplasm	leiomyosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000564	"An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women.  It is characterized by a proliferation of neoplastic spindle cells.  Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." []	2023201	\N	\N	EFO	4	EFO	disease	leiomyosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000564	"An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women.  It is characterized by a proliferation of neoplastic spindle cells.  Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." []	3177160	\N	\N	EFO	5	EFO	disposition	leiomyosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000564	"An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women.  It is characterized by a proliferation of neoplastic spindle cells.  Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." []	4387620	\N	\N	EFO	6	EFO	material property	leiomyosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000564	"An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women.  It is characterized by a proliferation of neoplastic spindle cells.  Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." []	5408548	\N	\N	EFO	7	EFO	experimental factor	leiomyosarcoma
EFO:0000565	\N	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0000565	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	64328	\N	\N	EFO	0	EFO	leukemia	leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000565	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	204800	\N	\N	EFO	1	EFO	lymphoid neoplasm	leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000565	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	557875	\N	\N	EFO	2	EFO	cancer	leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000565	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	557876	\N	\N	EFO	2	EFO	hematological system disease	leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000565	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	1140183	\N	\N	EFO	3	EFO	neoplasm	leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000565	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	1140184	\N	\N	EFO	3	EFO	disease	leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000565	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	2023202	\N	\N	EFO	4	EFO	disease	leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000565	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	3177161	\N	\N	EFO	5	EFO	disposition	leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000565	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	4132543	\N	\N	EFO	6	EFO	material property	leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000565	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	5180902	\N	\N	EFO	7	EFO	experimental factor	leukemia
EFO:0000568	\N	\N	"The photoperiod and type (e.g., natural, restricted wavelength) of light exposure." []	EFO:0000568	"The photoperiod and type (e.g., natural, restricted wavelength) of light exposure." []	64329	\N	\N	EFO	0	EFO	light	light
EFO:0000469	EFO:0000568	\N	"The external elements and conditions which surround, influence, and affect the life and development of an organism or population." []	EFO:0000568	"The photoperiod and type (e.g., natural, restricted wavelength) of light exposure." []	204801	\N	\N	EFO	1	EFO	environmental factor	light
BFO:0000040	EFO:0000469	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000568	"The photoperiod and type (e.g., natural, restricted wavelength) of light exposure." []	557877	\N	\N	EFO	2	EFO	material entity	light
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000568	"The photoperiod and type (e.g., natural, restricted wavelength) of light exposure." []	1140185	\N	\N	EFO	3	EFO	experimental factor	light
EFO:0000569	\N	\N	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	EFO:0000569	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	64330	\N	\N	EFO	0	EFO	liposarcoma	liposarcoma
EFO:0000691	EFO:0000569	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000569	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	204802	\N	\N	EFO	1	EFO	sarcoma	liposarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000569	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	557878	\N	\N	EFO	2	EFO	cancer	liposarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000569	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	1140186	\N	\N	EFO	3	EFO	neoplasm	liposarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000569	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	2023204	\N	\N	EFO	4	EFO	disease	liposarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000569	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	3177163	\N	\N	EFO	5	EFO	disposition	liposarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000569	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	4387622	\N	\N	EFO	6	EFO	material property	liposarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000569	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	5408549	\N	\N	EFO	7	EFO	experimental factor	liposarcoma
EFO:0000571	\N	\N	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	64331	\N	\N	EFO	0	EFO	lung adenocarcinoma	lung adenocarcinoma
EFO:0001071	EFO:0000571	\N	"Tumors or cancer of the LUNG." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	204803	\N	\N	EFO	1	EFO	lung carcinoma	lung adenocarcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	557879	\N	\N	EFO	2	EFO	carcinoma	lung adenocarcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	557880	\N	\N	EFO	2	EFO	lung disease	lung adenocarcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	557881	\N	\N	EFO	2	EFO	respiratory system neoplasm	lung adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	1140187	\N	\N	EFO	3	EFO	cancer	lung adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	1140188	\N	\N	EFO	3	EFO	epithelial neoplasm	lung adenocarcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	1140189	\N	\N	EFO	3	EFO	respiratory system disease	lung adenocarcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	1140190	\N	\N	EFO	3	EFO	neoplasm	lung adenocarcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	1140191	\N	\N	EFO	3	EFO	respiratory system disease	lung adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	2023205	\N	\N	EFO	4	EFO	neoplasm	lung adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	2023206	\N	\N	EFO	4	EFO	neoplasm	lung adenocarcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	2023207	\N	\N	EFO	4	EFO	disease	lung adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	3177164	\N	\N	EFO	5	EFO	disease	lung adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	4132544	\N	\N	EFO	6	EFO	disposition	lung adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	5180903	\N	\N	EFO	7	EFO	material property	lung adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000571	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	5996561	\N	\N	EFO	8	EFO	experimental factor	lung adenocarcinoma
EFO:0000572	\N	\N	"Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes." []	EFO:0000572	"Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes." []	64332	\N	\N	EFO	0	EFO	lymphoblast	lymphoblast
CL:0000988	EFO:0000572	\N	"A cell of a hematopoietic lineage." []	EFO:0000572	"Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes." []	204804	\N	\N	EFO	1	EFO	hematopoietic cell	lymphoblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0000572	"Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes." []	557882	\N	\N	EFO	2	EFO	cell type	lymphoblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000572	"Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes." []	1140192	\N	\N	EFO	3	EFO	material entity	lymphoblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000572	"Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes." []	2023209	\N	\N	EFO	4	EFO	experimental factor	lymphoblast
EFO:0000574	\N	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:0000574	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	64333	\N	\N	EFO	0	EFO	lymphoma	lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0000574	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	204805	\N	\N	EFO	1	EFO	lymphoid neoplasm	lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000574	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	557883	\N	\N	EFO	2	EFO	cancer	lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0000574	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	557884	\N	\N	EFO	2	EFO	hematological system disease	lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000574	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	1140193	\N	\N	EFO	3	EFO	neoplasm	lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000574	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	1140194	\N	\N	EFO	3	EFO	disease	lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000574	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	2023210	\N	\N	EFO	4	EFO	disease	lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000574	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	3177166	\N	\N	EFO	5	EFO	disposition	lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000574	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	4132545	\N	\N	EFO	6	EFO	material property	lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000574	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	5180904	\N	\N	EFO	7	EFO	experimental factor	lymphoma
EFO:0000579	\N	\N	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	EFO:0000579	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	64334	\N	\N	EFO	0	EFO	media	media
EFO:0000523	EFO:0000579	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0000579	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	204806	\N	\N	EFO	1	EFO	growth condition	media
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0000579	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	557885	\N	\N	EFO	2	EFO	biological role	media
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0000579	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	1140195	\N	\N	EFO	3	EFO	role	media
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000579	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	2023212	\N	\N	EFO	4	EFO	material property	media
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000579	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	3177168	\N	\N	EFO	5	EFO	experimental factor	media
EFO:0000580	\N	\N	"An infiltrating breast carcinoma with a relatively favorable prognosis.  It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas.  It is well circumscribed, with soft cut surface and often of considerable size.  Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells.  The malignant cells are round with abundant cytoplasm and vesicular nuclei.  The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate.  Glandular or tubular structures are absent." []	EFO:0000580	"An infiltrating breast carcinoma with a relatively favorable prognosis.  It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas.  It is well circumscribed, with soft cut surface and often of considerable size.  Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells.  The malignant cells are round with abundant cytoplasm and vesicular nuclei.  The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate.  Glandular or tubular structures are absent." []	64335	\N	\N	EFO	0	EFO	medullary breast carcinoma	medullary breast carcinoma
EFO:0000305	EFO:0000580	\N	"Tumors or cancer of the human BREAST." []	EFO:0000580	"An infiltrating breast carcinoma with a relatively favorable prognosis.  It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas.  It is well circumscribed, with soft cut surface and often of considerable size.  Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells.  The malignant cells are round with abundant cytoplasm and vesicular nuclei.  The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate.  Glandular or tubular structures are absent." []	204807	\N	\N	EFO	1	EFO	breast carcinoma	medullary breast carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000580	"An infiltrating breast carcinoma with a relatively favorable prognosis.  It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas.  It is well circumscribed, with soft cut surface and often of considerable size.  Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells.  The malignant cells are round with abundant cytoplasm and vesicular nuclei.  The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate.  Glandular or tubular structures are absent." []	557886	\N	\N	EFO	2	EFO	carcinoma	medullary breast carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000580	"An infiltrating breast carcinoma with a relatively favorable prognosis.  It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas.  It is well circumscribed, with soft cut surface and often of considerable size.  Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells.  The malignant cells are round with abundant cytoplasm and vesicular nuclei.  The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate.  Glandular or tubular structures are absent." []	1140196	\N	\N	EFO	3	EFO	cancer	medullary breast carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000580	"An infiltrating breast carcinoma with a relatively favorable prognosis.  It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas.  It is well circumscribed, with soft cut surface and often of considerable size.  Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells.  The malignant cells are round with abundant cytoplasm and vesicular nuclei.  The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate.  Glandular or tubular structures are absent." []	1140197	\N	\N	EFO	3	EFO	epithelial neoplasm	medullary breast carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000580	"An infiltrating breast carcinoma with a relatively favorable prognosis.  It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas.  It is well circumscribed, with soft cut surface and often of considerable size.  Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells.  The malignant cells are round with abundant cytoplasm and vesicular nuclei.  The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate.  Glandular or tubular structures are absent." []	2023213	\N	\N	EFO	4	EFO	neoplasm	medullary breast carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000580	"An infiltrating breast carcinoma with a relatively favorable prognosis.  It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas.  It is well circumscribed, with soft cut surface and often of considerable size.  Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells.  The malignant cells are round with abundant cytoplasm and vesicular nuclei.  The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate.  Glandular or tubular structures are absent." []	2023214	\N	\N	EFO	4	EFO	neoplasm	medullary breast carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000580	"An infiltrating breast carcinoma with a relatively favorable prognosis.  It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas.  It is well circumscribed, with soft cut surface and often of considerable size.  Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells.  The malignant cells are round with abundant cytoplasm and vesicular nuclei.  The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate.  Glandular or tubular structures are absent." []	3177169	\N	\N	EFO	5	EFO	disease	medullary breast carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000580	"An infiltrating breast carcinoma with a relatively favorable prognosis.  It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas.  It is well circumscribed, with soft cut surface and often of considerable size.  Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells.  The malignant cells are round with abundant cytoplasm and vesicular nuclei.  The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate.  Glandular or tubular structures are absent." []	4387625	\N	\N	EFO	6	EFO	disposition	medullary breast carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000580	"An infiltrating breast carcinoma with a relatively favorable prognosis.  It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas.  It is well circumscribed, with soft cut surface and often of considerable size.  Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells.  The malignant cells are round with abundant cytoplasm and vesicular nuclei.  The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate.  Glandular or tubular structures are absent." []	5408551	\N	\N	EFO	7	EFO	material property	medullary breast carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000580	"An infiltrating breast carcinoma with a relatively favorable prognosis.  It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas.  It is well circumscribed, with soft cut surface and often of considerable size.  Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells.  The malignant cells are round with abundant cytoplasm and vesicular nuclei.  The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate.  Glandular or tubular structures are absent." []	6147415	\N	\N	EFO	8	EFO	experimental factor	medullary breast carcinoma
EFO:0000584	\N	\N	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	EFO:0000584	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	64336	\N	\N	EFO	0	EFO	infectious meningitis	infectious meningitis
EFO:0005741	EFO:0000584	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000584	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	204808	\N	\N	EFO	1	EFO	infectious disease	infectious meningitis
EFO:0005774	EFO:0000584	\N	"A disease affecting the brain or part of the brain." []	EFO:0000584	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	204809	\N	\N	EFO	1	EFO	brain disease	infectious meningitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000584	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	557887	\N	\N	EFO	2	EFO	disease	infectious meningitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000584	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	557888	\N	\N	EFO	2	EFO	nervous system disease	infectious meningitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000584	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	2023216	\N	\N	EFO	4	EFO	disposition	infectious meningitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000584	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	1140199	\N	\N	EFO	3	EFO	disease	infectious meningitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000584	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	2999240	\N	\N	EFO	5	EFO	material property	infectious meningitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000584	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	4132546	\N	\N	EFO	6	EFO	experimental factor	infectious meningitis
EFO:0000586	\N	\N	"" []	EFO:0000586	"" []	64337	\N	\N	EFO	0	EFO	mesenchymal stem cell	mesenchymal stem cell
CL:0000034	EFO:0000586	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	EFO:0000586	"" []	204810	\N	\N	EFO	1	EFO	stem cell	mesenchymal stem cell
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0000586	"" []	557889	\N	\N	EFO	2	EFO	cell type	mesenchymal stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000586	"" []	1140200	\N	\N	EFO	3	EFO	material entity	mesenchymal stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000586	"" []	2023217	\N	\N	EFO	4	EFO	experimental factor	mesenchymal stem cell
EFO:0000588	\N	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:0000588	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	64338	\N	\N	EFO	0	EFO	mesothelioma	mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000588	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	204811	\N	\N	EFO	1	EFO	cancer	mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000588	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	557890	\N	\N	EFO	2	EFO	neoplasm	mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000588	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	1140201	\N	\N	EFO	3	EFO	disease	mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000588	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	2023218	\N	\N	EFO	4	EFO	disposition	mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000588	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	3177171	\N	\N	EFO	5	EFO	material property	mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000588	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	4387626	\N	\N	EFO	6	EFO	experimental factor	mesothelioma
EFO:0000589	\N	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0000589	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	64339	\N	\N	EFO	0	EFO	metabolic disease	metabolic disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000589	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	204812	\N	\N	EFO	1	EFO	disease	metabolic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000589	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	557891	\N	\N	EFO	2	EFO	disposition	metabolic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000589	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	1140202	\N	\N	EFO	3	EFO	material property	metabolic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000589	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	2023219	\N	\N	EFO	4	EFO	experimental factor	metabolic disease
EFO:0000595	\N	\N	"A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." []	EFO:0000595	"A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." []	64340	\N	\N	EFO	0	EFO	monophasic synovial sarcoma	monophasic synovial sarcoma
EFO:0001376	EFO:0000595	\N	"A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11).  It can occur at any age, but mainly affects young adults, more commonly males.  Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee.  Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components).  Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes." []	EFO:0000595	"A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." []	204813	\N	\N	EFO	1	EFO	synovial sarcoma	monophasic synovial sarcoma
EFO:0000691	EFO:0001376	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000595	"A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." []	557892	\N	\N	EFO	2	EFO	sarcoma	monophasic synovial sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000595	"A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." []	1140203	\N	\N	EFO	3	EFO	cancer	monophasic synovial sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000595	"A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." []	2023220	\N	\N	EFO	4	EFO	neoplasm	monophasic synovial sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000595	"A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." []	3177172	\N	\N	EFO	5	EFO	disease	monophasic synovial sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000595	"A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." []	4387627	\N	\N	EFO	6	EFO	disposition	monophasic synovial sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000595	"A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." []	5408552	\N	\N	EFO	7	EFO	material property	monophasic synovial sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000595	"A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." []	6147416	\N	\N	EFO	8	EFO	experimental factor	monophasic synovial sarcoma
EFO:0000597	\N	\N	"129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	EFO:0000597	"129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	64341	\N	\N	EFO	0	EFO	129 mouse strain	129 mouse strain
NCBITaxon:10090	\N	\N	"" []	EFO:0000597	"129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	194433	\N	\N	EFO	0	EFO	Mus musculus	129 mouse strain
EFO:0000598	\N	\N	"129S6 is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	EFO:0000598	"129S6 is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	64342	\N	\N	EFO	0	EFO	129S6	129S6
EFO:0000597	EFO:0000598	\N	"129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	EFO:0000598	"129S6 is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	204814	\N	\N	EFO	1	EFO	129 mouse strain	129S6
EFO:0000599	\N	\N	"129/Sv is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	EFO:0000599	"129/Sv is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	64343	\N	\N	EFO	0	EFO	129/Sv	129/Sv
EFO:0000597	EFO:0000599	\N	"129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	EFO:0000599	"129/Sv is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	204815	\N	\N	EFO	1	EFO	129 mouse strain	129/Sv
EFO:0000600	\N	\N	"129X1/SvJ is a substrain of the mouse strain 129 as described in Jackson Laboratory http://jaxmice.jax.org/strain/000691.html  Note this strain was formerly called 129X1" []	EFO:0000600	"129X1/SvJ is a substrain of the mouse strain 129 as described in Jackson Laboratory http://jaxmice.jax.org/strain/000691.html  Note this strain was formerly called 129X1" []	64344	\N	\N	EFO	0	EFO	129X1/SvJ	129X1/SvJ
EFO:0000597	EFO:0000600	\N	"129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	EFO:0000600	"129X1/SvJ is a substrain of the mouse strain 129 as described in Jackson Laboratory http://jaxmice.jax.org/strain/000691.html  Note this strain was formerly called 129X1" []	204816	\N	\N	EFO	1	EFO	129 mouse strain	129X1/SvJ
EFO:0000601	\N	\N	"129xC57BL/6 is a substrain of the mouse strain 129 as described in article PUBMED ID 15015938" []	EFO:0000601	"129xC57BL/6 is a substrain of the mouse strain 129 as described in article PUBMED ID 15015938" []	64345	\N	\N	EFO	0	EFO	129xC57BL/6	129xC57BL/6
EFO:0000597	EFO:0000601	\N	"129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	EFO:0000601	"129xC57BL/6 is a substrain of the mouse strain 129 as described in article PUBMED ID 15015938" []	204817	\N	\N	EFO	1	EFO	129 mouse strain	129xC57BL/6
EFO:0000602	\N	\N	"BALB/c is a mouse strain of albion mice." []	EFO:0000602	"BALB/c is a mouse strain of albion mice." []	64346	\N	\N	EFO	0	EFO	BALB/c	BALB/c
NCBITaxon:10090	\N	\N	"" []	EFO:0000602	"BALB/c is a mouse strain of albion mice." []	194434	\N	\N	EFO	0	EFO	Mus musculus	BALB/c
EFO:0000603	\N	\N	"BALB is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/001026.html" []	EFO:0000603	"BALB is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/001026.html" []	64347	\N	\N	EFO	0	EFO	BALB/cByJ	BALB/cByJ
NCBITaxon:10090	\N	\N	"" []	EFO:0000603	"BALB is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/001026.html" []	194435	\N	\N	EFO	0	EFO	Mus musculus	BALB/cByJ
EFO:0000604	\N	\N	"C57BL/10 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/searches/reference.cgi?7550" []	EFO:0000604	"C57BL/10 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/searches/reference.cgi?7550" []	64348	\N	\N	EFO	0	EFO	C57BL/10	C57BL/10
EFO:0005181	EFO:0000604	\N	"An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology." []	EFO:0000604	"C57BL/10 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/searches/reference.cgi?7550" []	204818	\N	\N	EFO	1	EFO	C57BL	C57BL/10
EFO:0000606	\N	\N	"C57BL/6J is a mouse strain as described in Jackson Laboratory http://phenome.jax.org/db/q?rtn=strains/details&strainid=7" []	EFO:0000606	"C57BL/6J is a mouse strain as described in Jackson Laboratory http://phenome.jax.org/db/q?rtn=strains/details&strainid=7" []	64349	\N	\N	EFO	0	EFO	C57BL/6J	C57BL/6J
EFO:0005181	EFO:0000606	\N	"An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology." []	EFO:0000606	"C57BL/6J is a mouse strain as described in Jackson Laboratory http://phenome.jax.org/db/q?rtn=strains/details&strainid=7" []	204819	\N	\N	EFO	1	EFO	C57BL	C57BL/6J
EFO:0000612	\N	\N	"NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)." []	EFO:0000612	"NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)." []	64350	\N	\N	EFO	0	EFO	myocardial infarction	myocardial infarction
EFO:0003777	EFO:0000612	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0000612	"NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)." []	204820	\N	\N	EFO	1	EFO	heart disease	myocardial infarction
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000612	"NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)." []	557893	\N	\N	EFO	2	EFO	cardiovascular disease	myocardial infarction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000612	"NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)." []	1140204	\N	\N	EFO	3	EFO	disease	myocardial infarction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000612	"NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)." []	2023221	\N	\N	EFO	4	EFO	disposition	myocardial infarction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000612	"NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)." []	3177173	\N	\N	EFO	5	EFO	material property	myocardial infarction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000612	"NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)." []	4387628	\N	\N	EFO	6	EFO	experimental factor	myocardial infarction
EFO:0000613	\N	\N	"The most common type of liposarcoma.  It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." []	EFO:0000613	"The most common type of liposarcoma.  It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." []	64351	\N	\N	EFO	0	EFO	myxoid liposarcoma	myxoid liposarcoma
EFO:0000569	EFO:0000613	\N	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	EFO:0000613	"The most common type of liposarcoma.  It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." []	204821	\N	\N	EFO	1	EFO	liposarcoma	myxoid liposarcoma
EFO:0000691	EFO:0000569	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000613	"The most common type of liposarcoma.  It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." []	557894	\N	\N	EFO	2	EFO	sarcoma	myxoid liposarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000613	"The most common type of liposarcoma.  It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." []	1140205	\N	\N	EFO	3	EFO	cancer	myxoid liposarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000613	"The most common type of liposarcoma.  It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." []	2023222	\N	\N	EFO	4	EFO	neoplasm	myxoid liposarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000613	"The most common type of liposarcoma.  It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." []	3177174	\N	\N	EFO	5	EFO	disease	myxoid liposarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000613	"The most common type of liposarcoma.  It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." []	4387629	\N	\N	EFO	6	EFO	disposition	myxoid liposarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000613	"The most common type of liposarcoma.  It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." []	5408553	\N	\N	EFO	7	EFO	material property	myxoid liposarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000613	"The most common type of liposarcoma.  It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." []	6147417	\N	\N	EFO	8	EFO	experimental factor	myxoid liposarcoma
EFO:0000614	\N	\N	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)" []	EFO:0000614	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)" []	64352	\N	\N	EFO	0	EFO	narcolepsy with cataplexy	narcolepsy with cataplexy
EFO:0005774	EFO:0000614	\N	"A disease affecting the brain or part of the brain." []	EFO:0000614	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)" []	204822	\N	\N	EFO	1	EFO	brain disease	narcolepsy with cataplexy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000614	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)" []	557895	\N	\N	EFO	2	EFO	nervous system disease	narcolepsy with cataplexy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000614	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)" []	1140206	\N	\N	EFO	3	EFO	disease	narcolepsy with cataplexy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000614	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)" []	2023223	\N	\N	EFO	4	EFO	disposition	narcolepsy with cataplexy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000614	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)" []	3177175	\N	\N	EFO	5	EFO	material property	narcolepsy with cataplexy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000614	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)" []	4387630	\N	\N	EFO	6	EFO	experimental factor	narcolepsy with cataplexy
EFO:0000616	\N	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000616	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	64353	\N	\N	EFO	0	EFO	neoplasm	neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000616	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	204823	\N	\N	EFO	1	EFO	disease	neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000616	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	557896	\N	\N	EFO	2	EFO	disposition	neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000616	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	1140207	\N	\N	EFO	3	EFO	material property	neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000616	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	2023224	\N	\N	EFO	4	EFO	experimental factor	neoplasm
EFO:0000618	\N	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000618	"a general class of medical conditions affecting the nervous system." []	64354	\N	\N	EFO	0	EFO	nervous system disease	nervous system disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000618	"a general class of medical conditions affecting the nervous system." []	204824	\N	\N	EFO	1	EFO	disease	nervous system disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000618	"a general class of medical conditions affecting the nervous system." []	557897	\N	\N	EFO	2	EFO	disposition	nervous system disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000618	"a general class of medical conditions affecting the nervous system." []	1140208	\N	\N	EFO	3	EFO	material property	nervous system disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000618	"a general class of medical conditions affecting the nervous system." []	2023225	\N	\N	EFO	4	EFO	experimental factor	nervous system disease
EFO:0000621	\N	\N	"A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." []	EFO:0000621	"A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." []	64355	\N	\N	EFO	0	EFO	neuroblastoma	neuroblastoma
EFO:0000616	EFO:0000621	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000621	"A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." []	204825	\N	\N	EFO	1	EFO	neoplasm	neuroblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000621	"A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." []	557898	\N	\N	EFO	2	EFO	disease	neuroblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000621	"A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." []	1140209	\N	\N	EFO	3	EFO	disposition	neuroblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000621	"A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." []	2023226	\N	\N	EFO	4	EFO	material property	neuroblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000621	"A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." []	3177176	\N	\N	EFO	5	EFO	experimental factor	neuroblastoma
EFO:0000622	\N	\N	"An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." []	EFO:0000622	"An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." []	64356	\N	\N	EFO	0	EFO	neurofibroma	neurofibroma
EFO:0002431	EFO:0000622	\N	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	EFO:0000622	"An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." []	204826	\N	\N	EFO	1	EFO	tumour of cranial and spinal nerves	neurofibroma
EFO:0000311	EFO:0002431	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000622	"An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." []	557899	\N	\N	EFO	2	EFO	cancer	neurofibroma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000622	"An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." []	1140210	\N	\N	EFO	3	EFO	neoplasm	neurofibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000622	"An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." []	2023227	\N	\N	EFO	4	EFO	disease	neurofibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000622	"An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." []	3177177	\N	\N	EFO	5	EFO	disposition	neurofibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000622	"An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." []	4387631	\N	\N	EFO	6	EFO	material property	neurofibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000622	"An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." []	5408554	\N	\N	EFO	7	EFO	experimental factor	neurofibroma
EFO:0000625	\N	\N	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	EFO:0000625	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	64357	\N	\N	EFO	0	EFO	nevus	nevus
EFO:0002422	EFO:0000625	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0000625	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	204827	\N	\N	EFO	1	EFO	benign neoplasm	nevus
EFO:0004198	EFO:0000625	\N	"Tumors or cancer of the SKIN." []	EFO:0000625	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	204828	\N	\N	EFO	1	EFO	skin neoplasm	nevus
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000625	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	557900	\N	\N	EFO	2	EFO	neoplasm	nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000625	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	557901	\N	\N	EFO	2	EFO	neoplasm	nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0000625	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	557902	\N	\N	EFO	2	EFO	skin disease	nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000625	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	1140211	\N	\N	EFO	3	EFO	disease	nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000625	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	1140212	\N	\N	EFO	3	EFO	disease	nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000625	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	2023228	\N	\N	EFO	4	EFO	disposition	nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000625	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	3177178	\N	\N	EFO	5	EFO	material property	nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000625	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	4387632	\N	\N	EFO	6	EFO	experimental factor	nevus
EFO:0000627	\N	\N	"The scalar number of injections administered to a material or organism." []	EFO:0000627	"The scalar number of injections administered to a material or organism." []	64358	\N	\N	EFO	0	EFO	number of injections	number of injections
EFO:0001444	EFO:0000627	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000627	"The scalar number of injections administered to a material or organism." []	204829	\N	\N	EFO	1	EFO	measurement	number of injections
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000627	"The scalar number of injections administered to a material or organism." []	557903	\N	\N	EFO	2	EFO	information entity	number of injections
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000627	"The scalar number of injections administered to a material or organism." []	1140213	\N	\N	EFO	3	EFO	experimental factor	number of injections
EFO:0000629	\N	\N	"The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions" []	EFO:0000629	"The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions" []	64359	\N	\N	EFO	0	EFO	observational design	observational design
EFO:0004667	EFO:0000629	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0000629	"The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions" []	204830	\N	\N	EFO	1	EFO	biological variation design	observational design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0000629	"The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions" []	557904	\N	\N	EFO	2	EFO	study design	observational design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0000629	"The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions" []	1140214	\N	\N	EFO	3	EFO	protocol	observational design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000629	"The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions" []	2023229	\N	\N	EFO	4	EFO	information entity	observational design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000629	"The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions" []	3177179	\N	\N	EFO	5	EFO	experimental factor	observational design
EFO:0000630	\N	\N	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	64360	\N	\N	EFO	0	EFO	oligoastrocytoma	oligoastrocytoma
EFO:0000272	EFO:0000630	\N	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	204831	\N	\N	EFO	1	EFO	astrocytoma	oligoastrocytoma
EFO:0005543	EFO:0000272	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	557905	\N	\N	EFO	2	EFO	glioma	oligoastrocytoma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	1140215	\N	\N	EFO	3	EFO	central nervous system cancer	oligoastrocytoma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	1140216	\N	\N	EFO	3	EFO	brain neoplasm	oligoastrocytoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	2023230	\N	\N	EFO	4	EFO	cancer	oligoastrocytoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	2023231	\N	\N	EFO	4	EFO	nervous system disease	oligoastrocytoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	2023232	\N	\N	EFO	4	EFO	neoplasm	oligoastrocytoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	2023233	\N	\N	EFO	4	EFO	brain disease	oligoastrocytoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	3177180	\N	\N	EFO	5	EFO	neoplasm	oligoastrocytoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	4387635	\N	\N	EFO	6	EFO	disease	oligoastrocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	4387633	\N	\N	EFO	6	EFO	disease	oligoastrocytoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	3177183	\N	\N	EFO	5	EFO	nervous system disease	oligoastrocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	5180905	\N	\N	EFO	7	EFO	disposition	oligoastrocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	5996562	\N	\N	EFO	8	EFO	material property	oligoastrocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000630	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	6550359	\N	\N	EFO	9	EFO	experimental factor	oligoastrocytoma
EFO:0000632	\N	\N	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	64361	\N	\N	EFO	0	EFO	oligodendroglioma	oligodendroglioma
EFO:0005543	EFO:0000632	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	204832	\N	\N	EFO	1	EFO	glioma	oligodendroglioma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	557906	\N	\N	EFO	2	EFO	central nervous system cancer	oligodendroglioma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	557907	\N	\N	EFO	2	EFO	brain neoplasm	oligodendroglioma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	1140217	\N	\N	EFO	3	EFO	cancer	oligodendroglioma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	1140218	\N	\N	EFO	3	EFO	nervous system disease	oligodendroglioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	1140219	\N	\N	EFO	3	EFO	neoplasm	oligodendroglioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	1140220	\N	\N	EFO	3	EFO	brain disease	oligodendroglioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	2023234	\N	\N	EFO	4	EFO	neoplasm	oligodendroglioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	3177186	\N	\N	EFO	5	EFO	disease	oligodendroglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	3177184	\N	\N	EFO	5	EFO	disease	oligodendroglioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	2023237	\N	\N	EFO	4	EFO	nervous system disease	oligodendroglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	4132547	\N	\N	EFO	6	EFO	disposition	oligodendroglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	5180906	\N	\N	EFO	7	EFO	material property	oligodendroglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000632	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	5996563	\N	\N	EFO	8	EFO	experimental factor	oligodendroglioma
EFO:0000633	\N	\N	"A measurement of the effects of different investigators, laboratories, or organizations on experimental results are studied." []	EFO:0000633	"A measurement of the effects of different investigators, laboratories, or organizations on experimental results are studied." []	64362	\N	\N	EFO	0	EFO	operator variation	operator variation
EFO:0001444	EFO:0000633	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000633	"A measurement of the effects of different investigators, laboratories, or organizations on experimental results are studied." []	204833	\N	\N	EFO	1	EFO	measurement	operator variation
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000633	"A measurement of the effects of different investigators, laboratories, or organizations on experimental results are studied." []	557908	\N	\N	EFO	2	EFO	information entity	operator variation
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000633	"A measurement of the effects of different investigators, laboratories, or organizations on experimental results are studied." []	1140221	\N	\N	EFO	3	EFO	experimental factor	operator variation
EFO:0000635	\N	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000635	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	64363	\N	\N	EFO	0	EFO	organism part	organism part
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000635	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	204834	\N	\N	EFO	1	EFO	material entity	organism part
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000635	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	557909	\N	\N	EFO	2	EFO	experimental factor	organism part
EFO:0000637	\N	\N	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	64364	\N	\N	EFO	0	EFO	osteosarcoma	osteosarcoma
EFO:0000691	EFO:0000637	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	204835	\N	\N	EFO	1	EFO	sarcoma	osteosarcoma
EFO:0003820	EFO:0000637	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	204836	\N	\N	EFO	1	EFO	bone neoplasm	osteosarcoma
EFO:0004260	EFO:0000637	\N	"Diseases of BONES." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	204837	\N	\N	EFO	1	EFO	bone disease	osteosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	557910	\N	\N	EFO	2	EFO	cancer	osteosarcoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	557911	\N	\N	EFO	2	EFO	neoplasm	osteosarcoma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	557912	\N	\N	EFO	2	EFO	skeletal system disease	osteosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	1140222	\N	\N	EFO	3	EFO	neoplasm	osteosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	2023238	\N	\N	EFO	4	EFO	disease	osteosarcoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	1140224	\N	\N	EFO	3	EFO	disease	osteosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	2999241	\N	\N	EFO	5	EFO	disposition	osteosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	4132548	\N	\N	EFO	6	EFO	material property	osteosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000637	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	5180907	\N	\N	EFO	7	EFO	experimental factor	osteosarcoma
EFO:0000638	\N	\N	"A measurement of the survival rate for a group of individuals suffering from a disease." []	EFO:0000638	"A measurement of the survival rate for a group of individuals suffering from a disease." []	64365	\N	\N	EFO	0	EFO	overall survival	overall survival
EFO:0000714	EFO:0000638	\N	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	EFO:0000638	"A measurement of the survival rate for a group of individuals suffering from a disease." []	204838	\N	\N	EFO	1	EFO	survival time	overall survival
EFO:0004557	EFO:0000638	\N	"Is the quantification of some measureable quality of a population e.g. birth rate." []	EFO:0000638	"A measurement of the survival rate for a group of individuals suffering from a disease." []	204839	\N	\N	EFO	1	EFO	population measurement	overall survival
EFO:0004949	EFO:0000714	\N	"A temporal measurement related to disease progression" []	EFO:0000638	"A measurement of the survival rate for a group of individuals suffering from a disease." []	557913	\N	\N	EFO	2	EFO	clinical temporal measurement	overall survival
EFO:0001444	EFO:0004557	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000638	"A measurement of the survival rate for a group of individuals suffering from a disease." []	557914	\N	\N	EFO	2	EFO	measurement	overall survival
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0000638	"A measurement of the survival rate for a group of individuals suffering from a disease." []	1140225	\N	\N	EFO	3	EFO	temporal measurement	overall survival
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000638	"A measurement of the survival rate for a group of individuals suffering from a disease." []	3177188	\N	\N	EFO	5	EFO	information entity	overall survival
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000638	"A measurement of the survival rate for a group of individuals suffering from a disease." []	2023240	\N	\N	EFO	4	EFO	measurement	overall survival
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000638	"A measurement of the survival rate for a group of individuals suffering from a disease." []	4066668	\N	\N	EFO	6	EFO	experimental factor	overall survival
EFO:0000639	\N	\N	"An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface." []	EFO:0000639	"An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface." []	64366	\N	\N	EFO	0	EFO	papillary cystadenocarcinoma	papillary cystadenocarcinoma
EFO:0000228	EFO:0000639	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0000639	"An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface." []	204840	\N	\N	EFO	1	EFO	adenocarcinoma	papillary cystadenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000639	"An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface." []	557915	\N	\N	EFO	2	EFO	carcinoma	papillary cystadenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000639	"An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface." []	1140227	\N	\N	EFO	3	EFO	cancer	papillary cystadenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000639	"An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface." []	1140228	\N	\N	EFO	3	EFO	epithelial neoplasm	papillary cystadenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000639	"An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface." []	2023242	\N	\N	EFO	4	EFO	neoplasm	papillary cystadenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000639	"An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface." []	2023243	\N	\N	EFO	4	EFO	neoplasm	papillary cystadenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000639	"An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface." []	3177189	\N	\N	EFO	5	EFO	disease	papillary cystadenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000639	"An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface." []	4387638	\N	\N	EFO	6	EFO	disposition	papillary cystadenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000639	"An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface." []	5408557	\N	\N	EFO	7	EFO	material property	papillary cystadenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000639	"An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface." []	6147419	\N	\N	EFO	8	EFO	experimental factor	papillary cystadenocarcinoma
EFO:0000640	\N	\N	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	64367	\N	\N	EFO	0	EFO	papillary renal cell carcinoma	papillary renal cell carcinoma
EFO:0000681	EFO:0000640	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	204841	\N	\N	EFO	1	EFO	renal cell carcinoma	papillary renal cell carcinoma
EFO:0002890	EFO:0000681	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	557916	\N	\N	EFO	2	EFO	renal carcinoma	papillary renal cell carcinoma
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	1140229	\N	\N	EFO	3	EFO	carcinoma	papillary renal cell carcinoma
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	1140230	\N	\N	EFO	3	EFO	kidney neoplasm	papillary renal cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	2023244	\N	\N	EFO	4	EFO	cancer	papillary renal cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	2023245	\N	\N	EFO	4	EFO	epithelial neoplasm	papillary renal cell carcinoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	2023246	\N	\N	EFO	4	EFO	kidney disease	papillary renal cell carcinoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	2023247	\N	\N	EFO	4	EFO	urogenital neoplasm	papillary renal cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	3177190	\N	\N	EFO	5	EFO	neoplasm	papillary renal cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	3177191	\N	\N	EFO	5	EFO	neoplasm	papillary renal cell carcinoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	3177192	\N	\N	EFO	5	EFO	disease	papillary renal cell carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	3177193	\N	\N	EFO	5	EFO	neoplasm	papillary renal cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	4387639	\N	\N	EFO	6	EFO	disease	papillary renal cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	5408558	\N	\N	EFO	7	EFO	disposition	papillary renal cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	5996564	\N	\N	EFO	8	EFO	material property	papillary renal cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000640	"Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages." []	6550360	\N	\N	EFO	9	EFO	experimental factor	papillary renal cell carcinoma
EFO:0000641	\N	\N	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	64368	\N	\N	EFO	0	EFO	papillary thyroid carcinoma	papillary thyroid carcinoma
EFO:0002892	EFO:0000641	\N	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	204842	\N	\N	EFO	1	EFO	thyroid carcinoma	papillary thyroid carcinoma
EFO:1002017	EFO:0000641	\N	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	204843	\N	\N	EFO	1	EFO	differentiated thyroid carcinoma	papillary thyroid carcinoma
EFO:0000313	EFO:0002892	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	557917	\N	\N	EFO	2	EFO	carcinoma	papillary thyroid carcinoma
EFO:0003841	EFO:0002892	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	557918	\N	\N	EFO	2	EFO	thyroid neoplasm	papillary thyroid carcinoma
EFO:0000313	EFO:1002017	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	557919	\N	\N	EFO	2	EFO	carcinoma	papillary thyroid carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	1140231	\N	\N	EFO	3	EFO	cancer	papillary thyroid carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	1140232	\N	\N	EFO	3	EFO	epithelial neoplasm	papillary thyroid carcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	1140233	\N	\N	EFO	3	EFO	endocrine neoplasm	papillary thyroid carcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	1140234	\N	\N	EFO	3	EFO	thyroid disease	papillary thyroid carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	2023248	\N	\N	EFO	4	EFO	neoplasm	papillary thyroid carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	2023249	\N	\N	EFO	4	EFO	neoplasm	papillary thyroid carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	2023250	\N	\N	EFO	4	EFO	neoplasm	papillary thyroid carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	2023251	\N	\N	EFO	4	EFO	endocrine system disease	papillary thyroid carcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	2023252	\N	\N	EFO	4	EFO	endocrine system disease	papillary thyroid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	3177194	\N	\N	EFO	5	EFO	disease	papillary thyroid carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	3177195	\N	\N	EFO	5	EFO	disease	papillary thyroid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	4387641	\N	\N	EFO	6	EFO	disposition	papillary thyroid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	5408560	\N	\N	EFO	7	EFO	material property	papillary thyroid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000641	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	6147421	\N	\N	EFO	8	EFO	experimental factor	papillary thyroid carcinoma
EFO:0000643	\N	\N	"A biological agent that causes disease or illness to its host" []	EFO:0000643	"A biological agent that causes disease or illness to its host" []	64369	\N	\N	EFO	0	EFO	pathogen	pathogen
CHEBI:24432	EFO:0000643	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0000643	"A biological agent that causes disease or illness to its host" []	204844	\N	\N	EFO	1	EFO	biological role	pathogen
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0000643	"A biological agent that causes disease or illness to its host" []	557920	\N	\N	EFO	2	EFO	role	pathogen
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000643	"A biological agent that causes disease or illness to its host" []	1140235	\N	\N	EFO	3	EFO	material property	pathogen
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000643	"A biological agent that causes disease or illness to its host" []	2023253	\N	\N	EFO	4	EFO	experimental factor	pathogen
EFO:0000644	\N	\N	"Tests and results for pathogens infecting organism from which the biosource is derived" []	EFO:0000644	"Tests and results for pathogens infecting organism from which the biosource is derived" []	64370	\N	\N	EFO	0	EFO	pathogen test	pathogen test
EFO:0002694	EFO:0000644	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000644	"Tests and results for pathogens infecting organism from which the biosource is derived" []	204845	\N	\N	EFO	1	EFO	experimental process	pathogen test
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000644	"Tests and results for pathogens infecting organism from which the biosource is derived" []	557921	\N	\N	EFO	2	EFO	planned process	pathogen test
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000644	"Tests and results for pathogens infecting organism from which the biosource is derived" []	1140236	\N	\N	EFO	3	EFO	process	pathogen test
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000644	"Tests and results for pathogens infecting organism from which the biosource is derived" []	2023254	\N	\N	EFO	4	EFO	experimental factor	pathogen test
EFO:0000647	\N	\N	"An individual who does some experimental process." []	EFO:0000647	"An individual who does some experimental process." []	64371	\N	\N	EFO	0	EFO	experiment performer	experiment performer
EFO:0002012	EFO:0000647	\N	"An organization role is a role which is borne by an organization." []	EFO:0000647	"An individual who does some experimental process." []	204846	\N	\N	EFO	1	EFO	organization role	experiment performer
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0000647	"An individual who does some experimental process." []	557922	\N	\N	EFO	2	EFO	role	experiment performer
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000647	"An individual who does some experimental process." []	1140237	\N	\N	EFO	3	EFO	material property	experiment performer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000647	"An individual who does some experimental process." []	2023255	\N	\N	EFO	4	EFO	experimental factor	experiment performer
EFO:0000648	\N	\N	"" []	EFO:0000648	"" []	64372	\N	\N	EFO	0	EFO	period of infection	period of infection
EFO:0004949	EFO:0000648	\N	"A temporal measurement related to disease progression" []	EFO:0000648	"" []	204847	\N	\N	EFO	1	EFO	clinical temporal measurement	period of infection
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0000648	"" []	557923	\N	\N	EFO	2	EFO	temporal measurement	period of infection
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000648	"" []	1140238	\N	\N	EFO	3	EFO	measurement	period of infection
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000648	"" []	2023256	\N	\N	EFO	4	EFO	information entity	period of infection
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000648	"" []	3177196	\N	\N	EFO	5	EFO	experimental factor	period of infection
EFO:0000649	\N	\N	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	EFO:0000649	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	64373	\N	\N	EFO	0	EFO	periodontitis	periodontitis
EFO:0000524	EFO:0000649	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0000649	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	204848	\N	\N	EFO	1	EFO	head disease	periodontitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000649	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	557924	\N	\N	EFO	2	EFO	disease	periodontitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000649	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	1140239	\N	\N	EFO	3	EFO	disposition	periodontitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000649	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	2023257	\N	\N	EFO	4	EFO	material property	periodontitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000649	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	3177197	\N	\N	EFO	5	EFO	experimental factor	periodontitis
EFO:0000650	\N	\N	"A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis." []	EFO:0000650	"A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis." []	64374	\N	\N	EFO	0	EFO	whooping cough	whooping cough
EFO:0000684	EFO:0000650	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000650	"A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis." []	204849	\N	\N	EFO	1	EFO	respiratory system disease	whooping cough
EFO:0000771	EFO:0000650	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0000650	"A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis." []	204850	\N	\N	EFO	1	EFO	bacterial disease	whooping cough
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000650	"A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis." []	557925	\N	\N	EFO	2	EFO	disease	whooping cough
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000650	"A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis." []	557926	\N	\N	EFO	2	EFO	infectious disease	whooping cough
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000650	"A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis." []	2023259	\N	\N	EFO	4	EFO	disposition	whooping cough
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000650	"A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis." []	1140241	\N	\N	EFO	3	EFO	disease	whooping cough
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000650	"A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis." []	2999242	\N	\N	EFO	5	EFO	material property	whooping cough
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000650	"A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis." []	4132549	\N	\N	EFO	6	EFO	experimental factor	whooping cough
EFO:0000651	\N	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0000651	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	64375	\N	\N	EFO	0	EFO	phenotype	phenotype
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0000651	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	204851	\N	\N	EFO	1	EFO	quality	phenotype
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000651	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	557927	\N	\N	EFO	2	EFO	material property	phenotype
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000651	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	1140242	\N	\N	EFO	3	EFO	experimental factor	phenotype
EFO:0000653	\N	\N	"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." []	EFO:0000653	"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." []	64376	\N	\N	EFO	0	EFO	phyllodes tumor	phyllodes tumor
EFO:0000305	EFO:0000653	\N	"Tumors or cancer of the human BREAST." []	EFO:0000653	"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." []	204852	\N	\N	EFO	1	EFO	breast carcinoma	phyllodes tumor
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000653	"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." []	557928	\N	\N	EFO	2	EFO	carcinoma	phyllodes tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000653	"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." []	1140243	\N	\N	EFO	3	EFO	cancer	phyllodes tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000653	"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." []	1140244	\N	\N	EFO	3	EFO	epithelial neoplasm	phyllodes tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000653	"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." []	2023260	\N	\N	EFO	4	EFO	neoplasm	phyllodes tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000653	"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." []	2023261	\N	\N	EFO	4	EFO	neoplasm	phyllodes tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000653	"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." []	3177199	\N	\N	EFO	5	EFO	disease	phyllodes tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000653	"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." []	4387642	\N	\N	EFO	6	EFO	disposition	phyllodes tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000653	"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." []	5408561	\N	\N	EFO	7	EFO	material property	phyllodes tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000653	"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." []	6147422	\N	\N	EFO	8	EFO	experimental factor	phyllodes tumor
EFO:0000658	\N	\N	"An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" []	EFO:0000658	"An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" []	64377	\N	\N	EFO	0	EFO	plexiform neurofibroma	plexiform neurofibroma
EFO:0000622	EFO:0000658	\N	"An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." []	EFO:0000658	"An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" []	204853	\N	\N	EFO	1	EFO	neurofibroma	plexiform neurofibroma
EFO:0002431	EFO:0000622	\N	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	EFO:0000658	"An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" []	557929	\N	\N	EFO	2	EFO	tumour of cranial and spinal nerves	plexiform neurofibroma
EFO:0000311	EFO:0002431	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000658	"An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" []	1140245	\N	\N	EFO	3	EFO	cancer	plexiform neurofibroma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000658	"An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" []	2023262	\N	\N	EFO	4	EFO	neoplasm	plexiform neurofibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000658	"An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" []	3177200	\N	\N	EFO	5	EFO	disease	plexiform neurofibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000658	"An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" []	4387643	\N	\N	EFO	6	EFO	disposition	plexiform neurofibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000658	"An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" []	5408562	\N	\N	EFO	7	EFO	material property	plexiform neurofibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000658	"An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" []	6147423	\N	\N	EFO	8	EFO	experimental factor	plexiform neurofibroma
EFO:0000660	\N	\N	"A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading." []	EFO:0000660	"A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading." []	64378	\N	\N	EFO	0	EFO	polycystic ovary syndrome	polycystic ovary syndrome
EFO:0001379	EFO:0000660	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000660	"A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading." []	204854	\N	\N	EFO	1	EFO	endocrine system disease	polycystic ovary syndrome
EFO:0005771	EFO:0000660	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0000660	"A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading." []	204855	\N	\N	EFO	1	EFO	ovarian disease	polycystic ovary syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000660	"A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading." []	557930	\N	\N	EFO	2	EFO	disease	polycystic ovary syndrome
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0000660	"A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading." []	557931	\N	\N	EFO	2	EFO	reproductive system disease	polycystic ovary syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000660	"A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading." []	2023264	\N	\N	EFO	4	EFO	disposition	polycystic ovary syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000660	"A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading." []	1140247	\N	\N	EFO	3	EFO	disease	polycystic ovary syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000660	"A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading." []	2999243	\N	\N	EFO	5	EFO	material property	polycystic ovary syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000660	"A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading." []	4132550	\N	\N	EFO	6	EFO	experimental factor	polycystic ovary syndrome
EFO:0000662	\N	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:0000662	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	64379	\N	\N	EFO	0	EFO	polyp	polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000662	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	204856	\N	\N	EFO	1	EFO	neoplasm	polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000662	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	557932	\N	\N	EFO	2	EFO	disease	polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000662	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	1140248	\N	\N	EFO	3	EFO	disposition	polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000662	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	2023265	\N	\N	EFO	4	EFO	material property	polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000662	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	3177202	\N	\N	EFO	5	EFO	experimental factor	polyp
EFO:0000663	\N	\N	"A mix of specimens from multiple individuals." []	EFO:0000663	"A mix of specimens from multiple individuals." []	64380	\N	\N	EFO	0	EFO	pool	pool
BFO:0000040	EFO:0000663	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000663	"A mix of specimens from multiple individuals." []	204857	\N	\N	EFO	1	EFO	material entity	pool
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000663	"A mix of specimens from multiple individuals." []	557933	\N	\N	EFO	2	EFO	experimental factor	pool
EFO:0000666	\N	\N	"Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." []	EFO:0000666	"Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." []	64381	\N	\N	EFO	0	EFO	portal hypertension	portal hypertension
EFO:0000319	EFO:0000666	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000666	"Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." []	204858	\N	\N	EFO	1	EFO	cardiovascular disease	portal hypertension
EFO:0001421	EFO:0000666	\N	"Pathological processes of the LIVER." []	EFO:0000666	"Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." []	204859	\N	\N	EFO	1	EFO	liver disease	portal hypertension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000666	"Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." []	557934	\N	\N	EFO	2	EFO	disease	portal hypertension
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000666	"Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." []	557935	\N	\N	EFO	2	EFO	digestive system disease	portal hypertension
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000666	"Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." []	557936	\N	\N	EFO	2	EFO	endocrine system disease	portal hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000666	"Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." []	2023267	\N	\N	EFO	4	EFO	disposition	portal hypertension
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000666	"Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." []	1140250	\N	\N	EFO	3	EFO	disease	portal hypertension
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000666	"Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." []	1140251	\N	\N	EFO	3	EFO	disease	portal hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000666	"Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." []	2999244	\N	\N	EFO	5	EFO	material property	portal hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000666	"Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS." []	4132551	\N	\N	EFO	6	EFO	experimental factor	portal hypertension
EFO:0000668	\N	\N	"A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." []	EFO:0000668	"A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." []	64382	\N	\N	EFO	0	EFO	preeclampsia	preeclampsia
EFO:0000537	EFO:0000668	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:0000668	"A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." []	204860	\N	\N	EFO	1	EFO	hypertension	preeclampsia
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000668	"A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." []	557937	\N	\N	EFO	2	EFO	cardiovascular disease	preeclampsia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000668	"A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." []	1140252	\N	\N	EFO	3	EFO	disease	preeclampsia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000668	"A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." []	2023268	\N	\N	EFO	4	EFO	disposition	preeclampsia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000668	"A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." []	3177204	\N	\N	EFO	5	EFO	material property	preeclampsia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000668	"A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." []	4387644	\N	\N	EFO	6	EFO	experimental factor	preeclampsia
EFO:0000672	\N	\N	"A population in which a grouping of subjects in some study grouped on the basis of the probable outcome of some disease e.g. by gene expression, by physiological indicators etc" []	EFO:0000672	"A population in which a grouping of subjects in some study grouped on the basis of the probable outcome of some disease e.g. by gene expression, by physiological indicators etc" []	64383	\N	\N	EFO	0	EFO	prognostic subgroup	prognostic subgroup
OBI:0000181	EFO:0000672	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0000672	"A population in which a grouping of subjects in some study grouped on the basis of the probable outcome of some disease e.g. by gene expression, by physiological indicators etc" []	204861	\N	\N	EFO	1	EFO	population	prognostic subgroup
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000672	"A population in which a grouping of subjects in some study grouped on the basis of the probable outcome of some disease e.g. by gene expression, by physiological indicators etc" []	557938	\N	\N	EFO	2	EFO	material entity	prognostic subgroup
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000672	"A population in which a grouping of subjects in some study grouped on the basis of the probable outcome of some disease e.g. by gene expression, by physiological indicators etc" []	1140253	\N	\N	EFO	3	EFO	experimental factor	prognostic subgroup
EFO:0000673	\N	\N	"Tumors or cancer of the PROSTATE." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	64384	\N	\N	EFO	0	EFO	prostate adenocarcinoma	prostate adenocarcinoma
EFO:0000228	EFO:0000673	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	204862	\N	\N	EFO	1	EFO	adenocarcinoma	prostate adenocarcinoma
EFO:0001663	EFO:0000673	\N	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	204863	\N	\N	EFO	1	EFO	prostate carcinoma	prostate adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	557939	\N	\N	EFO	2	EFO	carcinoma	prostate adenocarcinoma
EFO:0000313	EFO:0001663	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	557940	\N	\N	EFO	2	EFO	carcinoma	prostate adenocarcinoma
EFO:0000512	EFO:0001663	\N	"any diease of the reproductive system" []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	557941	\N	\N	EFO	2	EFO	reproductive system disease	prostate adenocarcinoma
EFO:0003863	EFO:0001663	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	557942	\N	\N	EFO	2	EFO	urogenital neoplasm	prostate adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	1140254	\N	\N	EFO	3	EFO	cancer	prostate adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	1140255	\N	\N	EFO	3	EFO	epithelial neoplasm	prostate adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	1140256	\N	\N	EFO	3	EFO	disease	prostate adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	1140257	\N	\N	EFO	3	EFO	neoplasm	prostate adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	2023269	\N	\N	EFO	4	EFO	neoplasm	prostate adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	2023270	\N	\N	EFO	4	EFO	neoplasm	prostate adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	4132553	\N	\N	EFO	6	EFO	disposition	prostate adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	3177205	\N	\N	EFO	5	EFO	disease	prostate adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	5059306	\N	\N	EFO	7	EFO	material property	prostate adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000673	"Tumors or cancer of the PROSTATE." []	5876520	\N	\N	EFO	8	EFO	experimental factor	prostate adenocarcinoma
EFO:0000676	\N	\N	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	EFO:0000676	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	64385	\N	\N	EFO	0	EFO	psoriasis	psoriasis
EFO:0000540	EFO:0000676	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000676	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	204864	\N	\N	EFO	1	EFO	immune system disease	psoriasis
EFO:1000636	EFO:0000676	\N	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	EFO:0000676	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	204865	\N	\N	EFO	1	EFO	inflammatory skin disease	psoriasis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000676	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	557943	\N	\N	EFO	2	EFO	disease	psoriasis
EFO:0000701	EFO:1000636	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0000676	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	557944	\N	\N	EFO	2	EFO	skin disease	psoriasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000676	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	2023274	\N	\N	EFO	4	EFO	disposition	psoriasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000676	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	1140259	\N	\N	EFO	3	EFO	disease	psoriasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000676	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	2999245	\N	\N	EFO	5	EFO	material property	psoriasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000676	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	4132554	\N	\N	EFO	6	EFO	experimental factor	psoriasis
EFO:0000677	\N	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0000677	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	64386	\N	\N	EFO	0	EFO	mental or behavioural disorder	mental or behavioural disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0000677	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	204866	\N	\N	EFO	1	EFO	brain disease	mental or behavioural disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000677	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	557945	\N	\N	EFO	2	EFO	nervous system disease	mental or behavioural disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000677	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	1140260	\N	\N	EFO	3	EFO	disease	mental or behavioural disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000677	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	2023275	\N	\N	EFO	4	EFO	disposition	mental or behavioural disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000677	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	3177209	\N	\N	EFO	5	EFO	material property	mental or behavioural disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000677	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	4387646	\N	\N	EFO	6	EFO	experimental factor	mental or behavioural disorder
EFO:0000678	\N	\N	"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)" []	EFO:0000678	"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)" []	64387	\N	\N	EFO	0	EFO	pterygium	pterygium
EFO:0003966	EFO:0000678	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0000678	"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)" []	204867	\N	\N	EFO	1	EFO	eye disease	pterygium
EFO:0005950	EFO:0000678	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0000678	"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)" []	204868	\N	\N	EFO	1	EFO	head and neck neoplasia	pterygium
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000678	"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)" []	557946	\N	\N	EFO	2	EFO	disease	pterygium
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0000678	"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)" []	557947	\N	\N	EFO	2	EFO	head disease	pterygium
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000678	"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)" []	557948	\N	\N	EFO	2	EFO	neoplasm	pterygium
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000678	"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)" []	2023277	\N	\N	EFO	4	EFO	disposition	pterygium
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000678	"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)" []	1140262	\N	\N	EFO	3	EFO	disease	pterygium
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000678	"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)" []	1140263	\N	\N	EFO	3	EFO	disease	pterygium
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000678	"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)" []	2999246	\N	\N	EFO	5	EFO	material property	pterygium
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000678	"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)" []	4132555	\N	\N	EFO	6	EFO	experimental factor	pterygium
EFO:0000681	\N	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	64388	\N	\N	EFO	0	EFO	renal cell carcinoma	renal cell carcinoma
EFO:0002890	EFO:0000681	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	204869	\N	\N	EFO	1	EFO	renal carcinoma	renal cell carcinoma
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	557949	\N	\N	EFO	2	EFO	carcinoma	renal cell carcinoma
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	557950	\N	\N	EFO	2	EFO	kidney neoplasm	renal cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	1140264	\N	\N	EFO	3	EFO	cancer	renal cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	1140265	\N	\N	EFO	3	EFO	epithelial neoplasm	renal cell carcinoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	1140266	\N	\N	EFO	3	EFO	kidney disease	renal cell carcinoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	1140267	\N	\N	EFO	3	EFO	urogenital neoplasm	renal cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	2023278	\N	\N	EFO	4	EFO	neoplasm	renal cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	2023279	\N	\N	EFO	4	EFO	neoplasm	renal cell carcinoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	2023280	\N	\N	EFO	4	EFO	disease	renal cell carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	2023281	\N	\N	EFO	4	EFO	neoplasm	renal cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	3177211	\N	\N	EFO	5	EFO	disease	renal cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	4387647	\N	\N	EFO	6	EFO	disposition	renal cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	5180909	\N	\N	EFO	7	EFO	material property	renal cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000681	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	5996565	\N	\N	EFO	8	EFO	experimental factor	renal cell carcinoma
EFO:0000683	\N	\N	"A role played by a a biological sample in the context of an experiment where the intent is that biological or technical variation is measured." []	EFO:0000683	"A role played by a a biological sample in the context of an experiment where the intent is that biological or technical variation is measured." []	64389	\N	\N	EFO	0	EFO	replicate	replicate
BFO:0000023	EFO:0000683	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0000683	"A role played by a a biological sample in the context of an experiment where the intent is that biological or technical variation is measured." []	204870	\N	\N	EFO	1	EFO	role	replicate
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000683	"A role played by a a biological sample in the context of an experiment where the intent is that biological or technical variation is measured." []	557951	\N	\N	EFO	2	EFO	material property	replicate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000683	"A role played by a a biological sample in the context of an experiment where the intent is that biological or technical variation is measured." []	1140268	\N	\N	EFO	3	EFO	experimental factor	replicate
EFO:0000684	\N	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000684	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	64390	\N	\N	EFO	0	EFO	respiratory system disease	respiratory system disease
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000684	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	204871	\N	\N	EFO	1	EFO	disease	respiratory system disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000684	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	557952	\N	\N	EFO	2	EFO	disposition	respiratory system disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000684	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	1140269	\N	\N	EFO	3	EFO	material property	respiratory system disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000684	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	2023282	\N	\N	EFO	4	EFO	experimental factor	respiratory system disease
EFO:0000685	\N	\N	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	EFO:0000685	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	64391	\N	\N	EFO	0	EFO	rheumatoid arthritis	rheumatoid arthritis
EFO:0005856	EFO:0000685	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:0000685	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	204872	\N	\N	EFO	1	EFO	arthritis	rheumatoid arthritis
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0000685	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	557953	\N	\N	EFO	2	EFO	autoimmune disease	rheumatoid arthritis
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0000685	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	557954	\N	\N	EFO	2	EFO	rheumatic disease	rheumatoid arthritis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000685	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	1140270	\N	\N	EFO	3	EFO	immune system disease	rheumatoid arthritis
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0000685	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	1140271	\N	\N	EFO	3	EFO	skeletal system disease	rheumatoid arthritis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000685	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	2023283	\N	\N	EFO	4	EFO	disease	rheumatoid arthritis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000685	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	2023284	\N	\N	EFO	4	EFO	disease	rheumatoid arthritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000685	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	3177213	\N	\N	EFO	5	EFO	disposition	rheumatoid arthritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000685	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	4387649	\N	\N	EFO	6	EFO	material property	rheumatoid arthritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000685	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	5408564	\N	\N	EFO	7	EFO	experimental factor	rheumatoid arthritis
EFO:0000686	\N	\N	"The probability that an event will occur generally with unfavorable outcome." []	EFO:0000686	"The probability that an event will occur generally with unfavorable outcome." []	64392	\N	\N	EFO	0	EFO	risk status	risk status
EFO:0001444	EFO:0000686	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000686	"The probability that an event will occur generally with unfavorable outcome." []	204873	\N	\N	EFO	1	EFO	measurement	risk status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000686	"The probability that an event will occur generally with unfavorable outcome." []	557955	\N	\N	EFO	2	EFO	information entity	risk status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000686	"The probability that an event will occur generally with unfavorable outcome." []	1140272	\N	\N	EFO	3	EFO	experimental factor	risk status
EFO:0000688	\N	\N	"A site from which a sample, i.e. a statistically representative of the whole, is extracted from the whole. e.g. a liver sample" []	EFO:0000688	"A site from which a sample, i.e. a statistically representative of the whole, is extracted from the whole. e.g. a liver sample" []	64393	\N	\N	EFO	0	EFO	sampling site	sampling site
BFO:0000029	EFO:0000688	\N	"A site is an entity which consists of a characteristic spatial shape in relation to some arrangement of other material entities." []	EFO:0000688	"A site from which a sample, i.e. a statistically representative of the whole, is extracted from the whole. e.g. a liver sample" []	204874	\N	\N	EFO	1	EFO	site	sampling site
EFO:0000001	BFO:0000029	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000688	"A site from which a sample, i.e. a statistically representative of the whole, is extracted from the whole. e.g. a liver sample" []	557956	\N	\N	EFO	2	EFO	experimental factor	sampling site
EFO:0000689	\N	\N	"" []	EFO:0000689	"" []	64394	\N	\N	EFO	0	EFO	sampling time	sampling time
EFO:0000719	EFO:0000689	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0000689	"" []	204875	\N	\N	EFO	1	EFO	temporal measurement	sampling time
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000689	"" []	557957	\N	\N	EFO	2	EFO	measurement	sampling time
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000689	"" []	1140273	\N	\N	EFO	3	EFO	information entity	sampling time
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000689	"" []	2023285	\N	\N	EFO	4	EFO	experimental factor	sampling time
EFO:0000691	\N	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000691	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	64395	\N	\N	EFO	0	EFO	sarcoma	sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000691	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	204876	\N	\N	EFO	1	EFO	cancer	sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000691	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	557958	\N	\N	EFO	2	EFO	neoplasm	sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000691	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	1140274	\N	\N	EFO	3	EFO	disease	sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000691	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	2023286	\N	\N	EFO	4	EFO	disposition	sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000691	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	3177214	\N	\N	EFO	5	EFO	material property	sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000691	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	4387650	\N	\N	EFO	6	EFO	experimental factor	sarcoma
EFO:0000692	\N	\N	"A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior." []	EFO:0000692	"A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior." []	64396	\N	\N	EFO	0	EFO	schizophrenia	schizophrenia
EFO:0000677	EFO:0000692	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0000692	"A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior." []	204877	\N	\N	EFO	1	EFO	mental or behavioural disorder	schizophrenia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0000692	"A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior." []	557959	\N	\N	EFO	2	EFO	brain disease	schizophrenia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000692	"A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior." []	1140275	\N	\N	EFO	3	EFO	nervous system disease	schizophrenia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000692	"A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior." []	2023287	\N	\N	EFO	4	EFO	disease	schizophrenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000692	"A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior." []	3177215	\N	\N	EFO	5	EFO	disposition	schizophrenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000692	"A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior." []	4387651	\N	\N	EFO	6	EFO	material property	schizophrenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000692	"A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior." []	5408565	\N	\N	EFO	7	EFO	experimental factor	schizophrenia
EFO:0000693	\N	\N	"A tumor of the peripheral nervous system composed of neoplastic Schwann cells.  The vast majority of schwannomas follow a benign clinical course.  Only rare cases associated with a malignant clinical course have been reported." []	EFO:0000693	"A tumor of the peripheral nervous system composed of neoplastic Schwann cells.  The vast majority of schwannomas follow a benign clinical course.  Only rare cases associated with a malignant clinical course have been reported." []	64397	\N	\N	EFO	0	EFO	schwannoma	schwannoma
EFO:0002431	EFO:0000693	\N	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	EFO:0000693	"A tumor of the peripheral nervous system composed of neoplastic Schwann cells.  The vast majority of schwannomas follow a benign clinical course.  Only rare cases associated with a malignant clinical course have been reported." []	204878	\N	\N	EFO	1	EFO	tumour of cranial and spinal nerves	schwannoma
EFO:0000311	EFO:0002431	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000693	"A tumor of the peripheral nervous system composed of neoplastic Schwann cells.  The vast majority of schwannomas follow a benign clinical course.  Only rare cases associated with a malignant clinical course have been reported." []	557960	\N	\N	EFO	2	EFO	cancer	schwannoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000693	"A tumor of the peripheral nervous system composed of neoplastic Schwann cells.  The vast majority of schwannomas follow a benign clinical course.  Only rare cases associated with a malignant clinical course have been reported." []	1140276	\N	\N	EFO	3	EFO	neoplasm	schwannoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000693	"A tumor of the peripheral nervous system composed of neoplastic Schwann cells.  The vast majority of schwannomas follow a benign clinical course.  Only rare cases associated with a malignant clinical course have been reported." []	2023288	\N	\N	EFO	4	EFO	disease	schwannoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000693	"A tumor of the peripheral nervous system composed of neoplastic Schwann cells.  The vast majority of schwannomas follow a benign clinical course.  Only rare cases associated with a malignant clinical course have been reported." []	3177216	\N	\N	EFO	5	EFO	disposition	schwannoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000693	"A tumor of the peripheral nervous system composed of neoplastic Schwann cells.  The vast majority of schwannomas follow a benign clinical course.  Only rare cases associated with a malignant clinical course have been reported." []	4387652	\N	\N	EFO	6	EFO	material property	schwannoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000693	"A tumor of the peripheral nervous system composed of neoplastic Schwann cells.  The vast majority of schwannomas follow a benign clinical course.  Only rare cases associated with a malignant clinical course have been reported." []	5408566	\N	\N	EFO	7	EFO	experimental factor	schwannoma
EFO:0000694	\N	\N	"Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." []	EFO:0000694	"Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." []	64398	\N	\N	EFO	0	EFO	severe acute respiratory syndrome	severe acute respiratory syndrome
EFO:0000684	EFO:0000694	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000694	"Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." []	204879	\N	\N	EFO	1	EFO	respiratory system disease	severe acute respiratory syndrome
EFO:0000763	EFO:0000694	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0000694	"Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." []	204880	\N	\N	EFO	1	EFO	viral disease	severe acute respiratory syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000694	"Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." []	557961	\N	\N	EFO	2	EFO	disease	severe acute respiratory syndrome
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000694	"Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." []	557962	\N	\N	EFO	2	EFO	infectious disease	severe acute respiratory syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000694	"Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." []	2023290	\N	\N	EFO	4	EFO	disposition	severe acute respiratory syndrome
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000694	"Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." []	1140278	\N	\N	EFO	3	EFO	disease	severe acute respiratory syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000694	"Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." []	2999247	\N	\N	EFO	5	EFO	material property	severe acute respiratory syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000694	"Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." []	4132556	\N	\N	EFO	6	EFO	experimental factor	severe acute respiratory syndrome
EFO:0000696	\N	\N	"A process whereby a stress state is applied parallel or tangential to a face of the material." []	EFO:0000696	"A process whereby a stress state is applied parallel or tangential to a face of the material." []	64399	\N	\N	EFO	0	EFO	shear stressing	shear stressing
EFO:0002694	EFO:0000696	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000696	"A process whereby a stress state is applied parallel or tangential to a face of the material." []	204881	\N	\N	EFO	1	EFO	experimental process	shear stressing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000696	"A process whereby a stress state is applied parallel or tangential to a face of the material." []	557963	\N	\N	EFO	2	EFO	planned process	shear stressing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000696	"A process whereby a stress state is applied parallel or tangential to a face of the material." []	1140279	\N	\N	EFO	3	EFO	process	shear stressing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000696	"A process whereby a stress state is applied parallel or tangential to a face of the material." []	2023291	\N	\N	EFO	4	EFO	experimental factor	shear stressing
EFO:0000698	\N	\N	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	EFO:0000698	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	64400	\N	\N	EFO	0	EFO	signet ring cell carcinoma	signet ring cell carcinoma
EFO:0000313	EFO:0000698	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000698	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	204882	\N	\N	EFO	1	EFO	carcinoma	signet ring cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000698	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	557964	\N	\N	EFO	2	EFO	cancer	signet ring cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000698	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	557965	\N	\N	EFO	2	EFO	epithelial neoplasm	signet ring cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000698	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	1140280	\N	\N	EFO	3	EFO	neoplasm	signet ring cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000698	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	1140281	\N	\N	EFO	3	EFO	neoplasm	signet ring cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000698	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	2023292	\N	\N	EFO	4	EFO	disease	signet ring cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000698	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	3177218	\N	\N	EFO	5	EFO	disposition	signet ring cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000698	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	4387653	\N	\N	EFO	6	EFO	material property	signet ring cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000698	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	5408567	\N	\N	EFO	7	EFO	experimental factor	signet ring cell carcinoma
EFO:0000699	\N	\N	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	64401	\N	\N	EFO	0	EFO	Sjogren syndrome	Sjogren syndrome
EFO:0000405	EFO:0000699	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	204883	\N	\N	EFO	1	EFO	digestive system disease	Sjogren syndrome
EFO:0000524	EFO:0000699	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	204884	\N	\N	EFO	1	EFO	head disease	Sjogren syndrome
EFO:0003966	EFO:0000699	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	204885	\N	\N	EFO	1	EFO	eye disease	Sjogren syndrome
EFO:0005140	EFO:0000699	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	204886	\N	\N	EFO	1	EFO	autoimmune disease	Sjogren syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	557966	\N	\N	EFO	2	EFO	disease	Sjogren syndrome
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	557967	\N	\N	EFO	2	EFO	disease	Sjogren syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	557968	\N	\N	EFO	2	EFO	disease	Sjogren syndrome
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	557969	\N	\N	EFO	2	EFO	immune system disease	Sjogren syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	2023294	\N	\N	EFO	4	EFO	disposition	Sjogren syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	1140283	\N	\N	EFO	3	EFO	disease	Sjogren syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	2999248	\N	\N	EFO	5	EFO	material property	Sjogren syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000699	"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis." []	4132557	\N	\N	EFO	6	EFO	experimental factor	Sjogren syndrome
EFO:0000700	\N	\N	"Cell coming from the intergument, organ that constitutes the external surface of the body. The intergument consists of the epidermis, dermis, and skin appendages." []	EFO:0000700	"Cell coming from the intergument, organ that constitutes the external surface of the body. The intergument consists of the epidermis, dermis, and skin appendages." []	64402	\N	\N	EFO	0	EFO	integumental cell	integumental cell
EFO:0000324	EFO:0000700	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0000700	"Cell coming from the intergument, organ that constitutes the external surface of the body. The intergument consists of the epidermis, dermis, and skin appendages." []	204887	\N	\N	EFO	1	EFO	cell type	integumental cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000700	"Cell coming from the intergument, organ that constitutes the external surface of the body. The intergument consists of the epidermis, dermis, and skin appendages." []	557970	\N	\N	EFO	2	EFO	material entity	integumental cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000700	"Cell coming from the intergument, organ that constitutes the external surface of the body. The intergument consists of the epidermis, dermis, and skin appendages." []	1140284	\N	\N	EFO	3	EFO	experimental factor	integumental cell
EFO:0000701	\N	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0000701	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	64403	\N	\N	EFO	0	EFO	skin disease	skin disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000701	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	204888	\N	\N	EFO	1	EFO	disease	skin disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000701	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	557971	\N	\N	EFO	2	EFO	disposition	skin disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000701	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	1140285	\N	\N	EFO	3	EFO	material property	skin disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000701	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	2023295	\N	\N	EFO	4	EFO	experimental factor	skin disease
EFO:0000702	\N	\N	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	64404	\N	\N	EFO	0	EFO	small cell lung carcinoma	small cell lung carcinoma
EFO:0001071	EFO:0000702	\N	"Tumors or cancer of the LUNG." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	204889	\N	\N	EFO	1	EFO	lung carcinoma	small cell lung carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	557972	\N	\N	EFO	2	EFO	carcinoma	small cell lung carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	557973	\N	\N	EFO	2	EFO	lung disease	small cell lung carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	557974	\N	\N	EFO	2	EFO	respiratory system neoplasm	small cell lung carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	1140286	\N	\N	EFO	3	EFO	cancer	small cell lung carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	1140287	\N	\N	EFO	3	EFO	epithelial neoplasm	small cell lung carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	1140288	\N	\N	EFO	3	EFO	respiratory system disease	small cell lung carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	1140289	\N	\N	EFO	3	EFO	neoplasm	small cell lung carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	1140290	\N	\N	EFO	3	EFO	respiratory system disease	small cell lung carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	2023296	\N	\N	EFO	4	EFO	neoplasm	small cell lung carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	2023297	\N	\N	EFO	4	EFO	neoplasm	small cell lung carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	2023298	\N	\N	EFO	4	EFO	disease	small cell lung carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	3177220	\N	\N	EFO	5	EFO	disease	small cell lung carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	4132558	\N	\N	EFO	6	EFO	disposition	small cell lung carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	5180910	\N	\N	EFO	7	EFO	material property	small cell lung carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000702	"An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)" []	5996566	\N	\N	EFO	8	EFO	experimental factor	small cell lung carcinoma
EFO:0000705	\N	\N	"A sarcoma that is composed of spindle cells with a rich vascular network." []	EFO:0000705	"A sarcoma that is composed of spindle cells with a rich vascular network." []	64405	\N	\N	EFO	0	EFO	spindle cell tumor	spindle cell tumor
EFO:0000691	EFO:0000705	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000705	"A sarcoma that is composed of spindle cells with a rich vascular network." []	204890	\N	\N	EFO	1	EFO	sarcoma	spindle cell tumor
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000705	"A sarcoma that is composed of spindle cells with a rich vascular network." []	557975	\N	\N	EFO	2	EFO	cancer	spindle cell tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000705	"A sarcoma that is composed of spindle cells with a rich vascular network." []	1140291	\N	\N	EFO	3	EFO	neoplasm	spindle cell tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000705	"A sarcoma that is composed of spindle cells with a rich vascular network." []	2023300	\N	\N	EFO	4	EFO	disease	spindle cell tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000705	"A sarcoma that is composed of spindle cells with a rich vascular network." []	3177222	\N	\N	EFO	5	EFO	disposition	spindle cell tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000705	"A sarcoma that is composed of spindle cells with a rich vascular network." []	4387655	\N	\N	EFO	6	EFO	material property	spindle cell tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000705	"A sarcoma that is composed of spindle cells with a rich vascular network." []	5408569	\N	\N	EFO	7	EFO	experimental factor	spindle cell tumor
EFO:0000706	\N	\N	"Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." []	EFO:0000706	"Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." []	64406	\N	\N	EFO	0	EFO	spondyloarthropathy	spondyloarthropathy
EFO:0000540	EFO:0000706	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000706	"Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." []	204891	\N	\N	EFO	1	EFO	immune system disease	spondyloarthropathy
EFO:0005755	EFO:0000706	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0000706	"Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." []	204892	\N	\N	EFO	1	EFO	rheumatic disease	spondyloarthropathy
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000706	"Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." []	557976	\N	\N	EFO	2	EFO	disease	spondyloarthropathy
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0000706	"Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." []	557977	\N	\N	EFO	2	EFO	skeletal system disease	spondyloarthropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000706	"Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." []	2023302	\N	\N	EFO	4	EFO	disposition	spondyloarthropathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000706	"Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." []	1140293	\N	\N	EFO	3	EFO	disease	spondyloarthropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000706	"Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." []	2999249	\N	\N	EFO	5	EFO	material property	spondyloarthropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000706	"Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." []	4132559	\N	\N	EFO	6	EFO	experimental factor	spondyloarthropathy
EFO:0000707	\N	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:0000707	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	64407	\N	\N	EFO	0	EFO	squamous cell carcinoma	squamous cell carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000707	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	204893	\N	\N	EFO	1	EFO	carcinoma	squamous cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000707	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	557978	\N	\N	EFO	2	EFO	cancer	squamous cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000707	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	557979	\N	\N	EFO	2	EFO	epithelial neoplasm	squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000707	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	1140294	\N	\N	EFO	3	EFO	neoplasm	squamous cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000707	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	1140295	\N	\N	EFO	3	EFO	neoplasm	squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000707	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	2023303	\N	\N	EFO	4	EFO	disease	squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000707	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	3177224	\N	\N	EFO	5	EFO	disposition	squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000707	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	4387656	\N	\N	EFO	6	EFO	material property	squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000707	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	5408570	\N	\N	EFO	7	EFO	experimental factor	squamous cell carcinoma
EFO:0000708	\N	\N	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	64408	\N	\N	EFO	0	EFO	squamous cell lung carcinoma	squamous cell lung carcinoma
EFO:0000707	EFO:0000708	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	204894	\N	\N	EFO	1	EFO	squamous cell carcinoma	squamous cell lung carcinoma
EFO:0001071	EFO:0000708	\N	"Tumors or cancer of the LUNG." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	204895	\N	\N	EFO	1	EFO	lung carcinoma	squamous cell lung carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	557980	\N	\N	EFO	2	EFO	carcinoma	squamous cell lung carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	557981	\N	\N	EFO	2	EFO	carcinoma	squamous cell lung carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	557982	\N	\N	EFO	2	EFO	lung disease	squamous cell lung carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	557983	\N	\N	EFO	2	EFO	respiratory system neoplasm	squamous cell lung carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	1140296	\N	\N	EFO	3	EFO	cancer	squamous cell lung carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	1140297	\N	\N	EFO	3	EFO	epithelial neoplasm	squamous cell lung carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	1140298	\N	\N	EFO	3	EFO	respiratory system disease	squamous cell lung carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	1140299	\N	\N	EFO	3	EFO	neoplasm	squamous cell lung carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	1140300	\N	\N	EFO	3	EFO	respiratory system disease	squamous cell lung carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	2023304	\N	\N	EFO	4	EFO	neoplasm	squamous cell lung carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	2023305	\N	\N	EFO	4	EFO	neoplasm	squamous cell lung carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	2023306	\N	\N	EFO	4	EFO	disease	squamous cell lung carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	3177225	\N	\N	EFO	5	EFO	disease	squamous cell lung carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	4132560	\N	\N	EFO	6	EFO	disposition	squamous cell lung carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	5180911	\N	\N	EFO	7	EFO	material property	squamous cell lung carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000708	"A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." []	5996567	\N	\N	EFO	8	EFO	experimental factor	squamous cell lung carcinoma
EFO:0000712	\N	\N	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	EFO:0000712	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	64409	\N	\N	EFO	0	EFO	stroke	stroke
EFO:0003763	EFO:0000712	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0000712	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	204896	\N	\N	EFO	1	EFO	cerebrovascular disorder	stroke
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0000712	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	557984	\N	\N	EFO	2	EFO	vascular disease	stroke
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000712	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	1140301	\N	\N	EFO	3	EFO	cardiovascular disease	stroke
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000712	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	2023308	\N	\N	EFO	4	EFO	disease	stroke
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000712	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	3177227	\N	\N	EFO	5	EFO	disposition	stroke
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000712	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	4387658	\N	\N	EFO	6	EFO	material property	stroke
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000712	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	5408572	\N	\N	EFO	7	EFO	experimental factor	stroke
EFO:0000713	\N	\N	"Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." []	EFO:0000713	"Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." []	64410	\N	\N	EFO	0	EFO	subarachnoid hemorrhage	subarachnoid hemorrhage
EFO:0003763	EFO:0000713	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0000713	"Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." []	204897	\N	\N	EFO	1	EFO	cerebrovascular disorder	subarachnoid hemorrhage
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0000713	"Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." []	557985	\N	\N	EFO	2	EFO	vascular disease	subarachnoid hemorrhage
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000713	"Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." []	1140302	\N	\N	EFO	3	EFO	cardiovascular disease	subarachnoid hemorrhage
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000713	"Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." []	2023309	\N	\N	EFO	4	EFO	disease	subarachnoid hemorrhage
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000713	"Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." []	3177228	\N	\N	EFO	5	EFO	disposition	subarachnoid hemorrhage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000713	"Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." []	4387659	\N	\N	EFO	6	EFO	material property	subarachnoid hemorrhage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000713	"Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." []	5408573	\N	\N	EFO	7	EFO	experimental factor	subarachnoid hemorrhage
EFO:0000714	\N	\N	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	EFO:0000714	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	64411	\N	\N	EFO	0	EFO	survival time	survival time
EFO:0004949	EFO:0000714	\N	"A temporal measurement related to disease progression" []	EFO:0000714	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	204898	\N	\N	EFO	1	EFO	clinical temporal measurement	survival time
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0000714	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	557986	\N	\N	EFO	2	EFO	temporal measurement	survival time
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000714	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	1140303	\N	\N	EFO	3	EFO	measurement	survival time
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000714	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	2023310	\N	\N	EFO	4	EFO	information entity	survival time
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000714	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	3177229	\N	\N	EFO	5	EFO	experimental factor	survival time
EFO:0000715	\N	\N	"The probabilty of continuance of life or existence especially under adverse conditions; Probably need a parent survival metric or similar" []	EFO:0000715	"The probabilty of continuance of life or existence especially under adverse conditions; Probably need a parent survival metric or similar" []	64412	\N	\N	EFO	0	EFO	survival probability	survival probability
BFO:0000016	EFO:0000715	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000715	"The probabilty of continuance of life or existence especially under adverse conditions; Probably need a parent survival metric or similar" []	204899	\N	\N	EFO	1	EFO	disposition	survival probability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000715	"The probabilty of continuance of life or existence especially under adverse conditions; Probably need a parent survival metric or similar" []	557987	\N	\N	EFO	2	EFO	material property	survival probability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000715	"The probabilty of continuance of life or existence especially under adverse conditions; Probably need a parent survival metric or similar" []	1140304	\N	\N	EFO	3	EFO	experimental factor	survival probability
EFO:0000717	\N	\N	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	64413	\N	\N	EFO	0	EFO	systemic scleroderma	systemic scleroderma
EFO:0000540	EFO:0000717	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	204900	\N	\N	EFO	1	EFO	immune system disease	systemic scleroderma
EFO:0000701	EFO:0000717	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	204901	\N	\N	EFO	1	EFO	skin disease	systemic scleroderma
EFO:1001993	EFO:0000717	\N	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	204902	\N	\N	EFO	1	EFO	scleroderma	systemic scleroderma
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	557988	\N	\N	EFO	2	EFO	disease	systemic scleroderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	557989	\N	\N	EFO	2	EFO	disease	systemic scleroderma
Orphanet:98702	EFO:1001993	\N	"" []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	557990	\N	\N	EFO	2	EFO	Connective tissue disease with eye involvement	systemic scleroderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	4387660	\N	\N	EFO	6	EFO	disposition	systemic scleroderma
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	1140306	\N	\N	EFO	3	EFO	connective tissue disease	systemic scleroderma
Orphanet:101435	Orphanet:98702	\N	"" []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	1140307	\N	\N	EFO	3	EFO	Rare genetic eye disease	systemic scleroderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	5028325	\N	\N	EFO	7	EFO	material property	systemic scleroderma
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	2023312	\N	\N	EFO	4	EFO	skeletal system disease	systemic scleroderma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	2023313	\N	\N	EFO	4	EFO	genetic disorder	systemic scleroderma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	2023314	\N	\N	EFO	4	EFO	eye disease	systemic scleroderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	5817350	\N	\N	EFO	8	EFO	experimental factor	systemic scleroderma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	3177231	\N	\N	EFO	5	EFO	disease	systemic scleroderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	3177232	\N	\N	EFO	5	EFO	disease	systemic scleroderma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000717	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	3177233	\N	\N	EFO	5	EFO	disease	systemic scleroderma
EFO:0000718	\N	\N	"The temperature that a material is exposed to." []	EFO:0000718	"The temperature that a material is exposed to." []	64414	\N	\N	EFO	0	EFO	exposure temperature	exposure temperature
EFO:0001444	EFO:0000718	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000718	"The temperature that a material is exposed to." []	204903	\N	\N	EFO	1	EFO	measurement	exposure temperature
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000718	"The temperature that a material is exposed to." []	557991	\N	\N	EFO	2	EFO	information entity	exposure temperature
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000718	"The temperature that a material is exposed to." []	1140308	\N	\N	EFO	3	EFO	experimental factor	exposure temperature
EFO:0000719	\N	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0000719	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	64415	\N	\N	EFO	0	EFO	temporal measurement	temporal measurement
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000719	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	204904	\N	\N	EFO	1	EFO	measurement	temporal measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000719	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	557992	\N	\N	EFO	2	EFO	information entity	temporal measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000719	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	1140309	\N	\N	EFO	3	EFO	experimental factor	temporal measurement
EFO:0000720	\N	\N	"The recorded value of the outcome of some test." []	EFO:0000720	"The recorded value of the outcome of some test." []	64416	\N	\N	EFO	0	EFO	test result	test result
IAO:0000030	EFO:0000720	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000720	"The recorded value of the outcome of some test." []	204905	\N	\N	EFO	1	EFO	information entity	test result
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000720	"The recorded value of the outcome of some test." []	557993	\N	\N	EFO	2	EFO	experimental factor	test result
EFO:0000721	\N	\N	"" []	EFO:0000721	"" []	64417	\N	\N	EFO	0	EFO	time	time
EFO:0000719	EFO:0000721	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0000721	"" []	204906	\N	\N	EFO	1	EFO	temporal measurement	time
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000721	"" []	557994	\N	\N	EFO	2	EFO	measurement	time
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000721	"" []	1140310	\N	\N	EFO	3	EFO	information entity	time
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000721	"" []	2023315	\N	\N	EFO	4	EFO	experimental factor	time
EFO:0000724	\N	\N	"Time point at which a sample or observation is made or taken from a biomaterial as measured from some reference point." []	EFO:0000724	"Time point at which a sample or observation is made or taken from a biomaterial as measured from some reference point." []	64418	\N	\N	EFO	0	EFO	timepoint	timepoint
EFO:0000719	EFO:0000724	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0000724	"Time point at which a sample or observation is made or taken from a biomaterial as measured from some reference point." []	204907	\N	\N	EFO	1	EFO	temporal measurement	timepoint
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0000724	"Time point at which a sample or observation is made or taken from a biomaterial as measured from some reference point." []	557995	\N	\N	EFO	2	EFO	measurement	timepoint
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0000724	"Time point at which a sample or observation is made or taken from a biomaterial as measured from some reference point." []	1140311	\N	\N	EFO	3	EFO	information entity	timepoint
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000724	"Time point at which a sample or observation is made or taken from a biomaterial as measured from some reference point." []	2023316	\N	\N	EFO	4	EFO	experimental factor	timepoint
EFO:0000726	\N	\N	"The process of bringing about genetic alteration of any cell or organism by a variety of means including recombinant DNA technology, viruses, chemical mutagens and X-rays." []	EFO:0000726	"The process of bringing about genetic alteration of any cell or organism by a variety of means including recombinant DNA technology, viruses, chemical mutagens and X-rays." []	64419	\N	\N	EFO	0	EFO	transfection	transfection
EFO:0002694	EFO:0000726	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000726	"The process of bringing about genetic alteration of any cell or organism by a variety of means including recombinant DNA technology, viruses, chemical mutagens and X-rays." []	204908	\N	\N	EFO	1	EFO	experimental process	transfection
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000726	"The process of bringing about genetic alteration of any cell or organism by a variety of means including recombinant DNA technology, viruses, chemical mutagens and X-rays." []	557996	\N	\N	EFO	2	EFO	planned process	transfection
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000726	"The process of bringing about genetic alteration of any cell or organism by a variety of means including recombinant DNA technology, viruses, chemical mutagens and X-rays." []	1140312	\N	\N	EFO	3	EFO	process	transfection
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000726	"The process of bringing about genetic alteration of any cell or organism by a variety of means including recombinant DNA technology, viruses, chemical mutagens and X-rays." []	2023317	\N	\N	EFO	4	EFO	experimental factor	transfection
EFO:0000727	\N	\N	"A process in which the act is intended to modify or alter some other material entity," []	EFO:0000727	"A process in which the act is intended to modify or alter some other material entity," []	64420	\N	\N	EFO	0	EFO	treatment	treatment
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000727	"A process in which the act is intended to modify or alter some other material entity," []	204909	\N	\N	EFO	1	EFO	experimental process	treatment
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000727	"A process in which the act is intended to modify or alter some other material entity," []	557997	\N	\N	EFO	2	EFO	planned process	treatment
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000727	"A process in which the act is intended to modify or alter some other material entity," []	1140313	\N	\N	EFO	3	EFO	process	treatment
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000727	"A process in which the act is intended to modify or alter some other material entity," []	2023318	\N	\N	EFO	4	EFO	experimental factor	treatment
EFO:0000729	\N	\N	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	EFO:0000729	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	64421	\N	\N	EFO	0	EFO	ulcerative colitis	ulcerative colitis
EFO:0003767	EFO:0000729	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:0000729	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	204910	\N	\N	EFO	1	EFO	inflammatory bowel disease	ulcerative colitis
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000729	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	557998	\N	\N	EFO	2	EFO	digestive system disease	ulcerative colitis
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0000729	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	557999	\N	\N	EFO	2	EFO	autoimmune disease	ulcerative colitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000729	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	1140314	\N	\N	EFO	3	EFO	disease	ulcerative colitis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000729	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	1140315	\N	\N	EFO	3	EFO	immune system disease	ulcerative colitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000729	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	3177235	\N	\N	EFO	5	EFO	disposition	ulcerative colitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000729	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	2023320	\N	\N	EFO	4	EFO	disease	ulcerative colitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000729	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	4132561	\N	\N	EFO	6	EFO	material property	ulcerative colitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000729	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	5180912	\N	\N	EFO	7	EFO	experimental factor	ulcerative colitis
EFO:0000730	\N	\N	"A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age." []	EFO:0000730	"A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age." []	64422	\N	\N	EFO	0	EFO	undifferentiated sarcoma	undifferentiated sarcoma
EFO:0000691	EFO:0000730	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000730	"A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age." []	204911	\N	\N	EFO	1	EFO	sarcoma	undifferentiated sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000730	"A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age." []	558000	\N	\N	EFO	2	EFO	cancer	undifferentiated sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000730	"A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age." []	1140316	\N	\N	EFO	3	EFO	neoplasm	undifferentiated sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000730	"A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age." []	2023321	\N	\N	EFO	4	EFO	disease	undifferentiated sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000730	"A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age." []	3177236	\N	\N	EFO	5	EFO	disposition	undifferentiated sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000730	"A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age." []	4387662	\N	\N	EFO	6	EFO	material property	undifferentiated sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000730	"A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age." []	5408574	\N	\N	EFO	7	EFO	experimental factor	undifferentiated sarcoma
EFO:0000731	\N	\N	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	EFO:0000731	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	64423	\N	\N	EFO	0	EFO	uterine fibroid	uterine fibroid
EFO:0003859	EFO:0000731	\N	"Tumors or cancer of the UTERUS." []	EFO:0000731	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	204912	\N	\N	EFO	1	EFO	uterine neoplasm	uterine fibroid
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:0000731	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	558001	\N	\N	EFO	2	EFO	reproductive system disease	uterine fibroid
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0000731	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	558002	\N	\N	EFO	2	EFO	urogenital neoplasm	uterine fibroid
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000731	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	1140317	\N	\N	EFO	3	EFO	disease	uterine fibroid
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000731	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	1140318	\N	\N	EFO	3	EFO	neoplasm	uterine fibroid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000731	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	3177238	\N	\N	EFO	5	EFO	disposition	uterine fibroid
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000731	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	2023323	\N	\N	EFO	4	EFO	disease	uterine fibroid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000731	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	4132562	\N	\N	EFO	6	EFO	material property	uterine fibroid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000731	"An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." []	5180913	\N	\N	EFO	7	EFO	experimental factor	uterine fibroid
EFO:0000732	\N	\N	"A carrier or inert medium used as a solvent (or diluent) in which some compound is formulated and or administered." []	EFO:0000732	"A carrier or inert medium used as a solvent (or diluent) in which some compound is formulated and or administered." []	64424	\N	\N	EFO	0	EFO	vehicle role	vehicle role
CHEBI:51086	EFO:0000732	\N	"A role played by the molecular entity or part thereof within a chemical context." []	EFO:0000732	"A carrier or inert medium used as a solvent (or diluent) in which some compound is formulated and or administered." []	204913	\N	\N	EFO	1	EFO	chemical role	vehicle role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0000732	"A carrier or inert medium used as a solvent (or diluent) in which some compound is formulated and or administered." []	558003	\N	\N	EFO	2	EFO	role	vehicle role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000732	"A carrier or inert medium used as a solvent (or diluent) in which some compound is formulated and or administered." []	1140319	\N	\N	EFO	3	EFO	material property	vehicle role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000732	"A carrier or inert medium used as a solvent (or diluent) in which some compound is formulated and or administered." []	2023324	\N	\N	EFO	4	EFO	experimental factor	vehicle role
EFO:0000734	\N	\N	"A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)" []	EFO:0000734	"A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)" []	64425	\N	\N	EFO	0	EFO	vitamin B12 deficiency	vitamin B12 deficiency
EFO:0005878	EFO:0000734	\N	"A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." []	EFO:0000734	"A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)" []	204914	\N	\N	EFO	1	EFO	vitamin deficiency	vitamin B12 deficiency
EFO:0000735	\N	\N	"The process of applying a solvent (e.g. water) or some solution (e.g. SSC/SDS) to a BioMaterial or an array to remove impurities or unwanted compounds." []	EFO:0000735	"The process of applying a solvent (e.g. water) or some solution (e.g. SSC/SDS) to a BioMaterial or an array to remove impurities or unwanted compounds." []	64426	\N	\N	EFO	0	EFO	washing	washing
EFO:0002694	EFO:0000735	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000735	"The process of applying a solvent (e.g. water) or some solution (e.g. SSC/SDS) to a BioMaterial or an array to remove impurities or unwanted compounds." []	204915	\N	\N	EFO	1	EFO	experimental process	washing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000735	"The process of applying a solvent (e.g. water) or some solution (e.g. SSC/SDS) to a BioMaterial or an array to remove impurities or unwanted compounds." []	558004	\N	\N	EFO	2	EFO	planned process	washing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000735	"The process of applying a solvent (e.g. water) or some solution (e.g. SSC/SDS) to a BioMaterial or an array to remove impurities or unwanted compounds." []	1140320	\N	\N	EFO	3	EFO	process	washing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000735	"The process of applying a solvent (e.g. water) or some solution (e.g. SSC/SDS) to a BioMaterial or an array to remove impurities or unwanted compounds." []	2023325	\N	\N	EFO	4	EFO	experimental factor	washing
EFO:0000736	\N	\N	"A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia.  It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma.  These tumors do not usually metastasize unless they undergo dedifferentiation." []	EFO:0000736	"A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia.  It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma.  These tumors do not usually metastasize unless they undergo dedifferentiation." []	64427	\N	\N	EFO	0	EFO	well-differentiated liposarcoma	well-differentiated liposarcoma
EFO:0000569	EFO:0000736	\N	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	EFO:0000736	"A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia.  It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma.  These tumors do not usually metastasize unless they undergo dedifferentiation." []	204916	\N	\N	EFO	1	EFO	liposarcoma	well-differentiated liposarcoma
EFO:0000691	EFO:0000569	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000736	"A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia.  It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma.  These tumors do not usually metastasize unless they undergo dedifferentiation." []	558005	\N	\N	EFO	2	EFO	sarcoma	well-differentiated liposarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000736	"A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia.  It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma.  These tumors do not usually metastasize unless they undergo dedifferentiation." []	1140321	\N	\N	EFO	3	EFO	cancer	well-differentiated liposarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000736	"A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia.  It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma.  These tumors do not usually metastasize unless they undergo dedifferentiation." []	2023326	\N	\N	EFO	4	EFO	neoplasm	well-differentiated liposarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000736	"A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia.  It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma.  These tumors do not usually metastasize unless they undergo dedifferentiation." []	3177239	\N	\N	EFO	5	EFO	disease	well-differentiated liposarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000736	"A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia.  It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma.  These tumors do not usually metastasize unless they undergo dedifferentiation." []	4387664	\N	\N	EFO	6	EFO	disposition	well-differentiated liposarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000736	"A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia.  It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma.  These tumors do not usually metastasize unless they undergo dedifferentiation." []	5408575	\N	\N	EFO	7	EFO	material property	well-differentiated liposarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000736	"A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia.  It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma.  These tumors do not usually metastasize unless they undergo dedifferentiation." []	6147424	\N	\N	EFO	8	EFO	experimental factor	well-differentiated liposarcoma
EFO:0000737	\N	\N	"Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" []	EFO:0000737	"Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" []	64428	\N	\N	EFO	0	EFO	well-differentiated sarcoma	well-differentiated sarcoma
EFO:0000691	EFO:0000737	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0000737	"Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" []	204917	\N	\N	EFO	1	EFO	sarcoma	well-differentiated sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000737	"Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" []	558006	\N	\N	EFO	2	EFO	cancer	well-differentiated sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000737	"Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" []	1140322	\N	\N	EFO	3	EFO	neoplasm	well-differentiated sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000737	"Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" []	2023327	\N	\N	EFO	4	EFO	disease	well-differentiated sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000737	"Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" []	3177240	\N	\N	EFO	5	EFO	disposition	well-differentiated sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000737	"Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" []	4387665	\N	\N	EFO	6	EFO	material property	well-differentiated sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000737	"Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" []	5408576	\N	\N	EFO	7	EFO	experimental factor	well-differentiated sarcoma
EFO:0000746	\N	\N	"An assay where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling" []	EFO:0000746	"An assay where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling" []	64429	\N	\N	EFO	0	EFO	proteomic profiling	proteomic profiling
EFO:0002694	EFO:0000746	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000746	"An assay where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling" []	204918	\N	\N	EFO	1	EFO	experimental process	proteomic profiling
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000746	"An assay where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling" []	558007	\N	\N	EFO	2	EFO	planned process	proteomic profiling
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000746	"An assay where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling" []	1140323	\N	\N	EFO	3	EFO	process	proteomic profiling
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000746	"An assay where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling" []	2023328	\N	\N	EFO	4	EFO	experimental factor	proteomic profiling
EFO:0000747	\N	\N	"An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution." []	EFO:0000747	"An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution." []	64430	\N	\N	EFO	0	EFO	antigen profiling	antigen profiling
EFO:0001458	EFO:0000747	\N	"An assay with input protein" []	EFO:0000747	"An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution." []	204919	\N	\N	EFO	1	EFO	protein assay	antigen profiling
EFO:0004120	EFO:0000747	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0000747	"An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution." []	204920	\N	\N	EFO	1	EFO	ArrayExpress experiment type	antigen profiling
EFO:0002772	EFO:0001458	\N	"" []	EFO:0000747	"An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution." []	558008	\N	\N	EFO	2	EFO	assay by molecule	antigen profiling
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000747	"An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution." []	558009	\N	\N	EFO	2	EFO	experimental process	antigen profiling
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0000747	"An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution." []	1140324	\N	\N	EFO	3	EFO	assay	antigen profiling
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000747	"An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution." []	3177241	\N	\N	EFO	5	EFO	planned process	antigen profiling
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000747	"An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution." []	2023329	\N	\N	EFO	4	EFO	experimental process	antigen profiling
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000747	"An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution." []	4066669	\N	\N	EFO	6	EFO	process	antigen profiling
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000747	"An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution." []	5059307	\N	\N	EFO	7	EFO	experimental factor	antigen profiling
EFO:0000748	\N	\N	"An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology." []	EFO:0000748	"An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology." []	64431	\N	\N	EFO	0	EFO	ChIP-Chip	ChIP-Chip
EFO:0002694	EFO:0000748	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000748	"An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology." []	204921	\N	\N	EFO	1	EFO	experimental process	ChIP-Chip
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000748	"An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology." []	558010	\N	\N	EFO	2	EFO	planned process	ChIP-Chip
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000748	"An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology." []	1140326	\N	\N	EFO	3	EFO	process	ChIP-Chip
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000748	"An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology." []	2023331	\N	\N	EFO	4	EFO	experimental factor	ChIP-Chip
EFO:0000749	\N	\N	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	64432	\N	\N	EFO	0	EFO	comparative genomic hybridization by array	comparative genomic hybridization by array
EFO:0001456	EFO:0000749	\N	"An assay with input DNA" []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	204922	\N	\N	EFO	1	EFO	DNA assay	comparative genomic hybridization by array
EFO:0002696	EFO:0000749	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	204923	\N	\N	EFO	1	EFO	assay by array	comparative genomic hybridization by array
EFO:0004108	EFO:0000749	\N	"Experiment type permitted in Atlas" []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	204924	\N	\N	EFO	1	EFO	Atlas experiment type	comparative genomic hybridization by array
EFO:0004120	EFO:0000749	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	204925	\N	\N	EFO	1	EFO	ArrayExpress experiment type	comparative genomic hybridization by array
EFO:0002772	EFO:0001456	\N	"" []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	558011	\N	\N	EFO	2	EFO	assay by molecule	comparative genomic hybridization by array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	558012	\N	\N	EFO	2	EFO	assay by instrument	comparative genomic hybridization by array
EFO:0002694	EFO:0004108	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	558013	\N	\N	EFO	2	EFO	experimental process	comparative genomic hybridization by array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	558014	\N	\N	EFO	2	EFO	experimental process	comparative genomic hybridization by array
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	1140327	\N	\N	EFO	3	EFO	assay	comparative genomic hybridization by array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	1140328	\N	\N	EFO	3	EFO	assay	comparative genomic hybridization by array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	3177243	\N	\N	EFO	5	EFO	planned process	comparative genomic hybridization by array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	2023332	\N	\N	EFO	4	EFO	experimental process	comparative genomic hybridization by array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	4066670	\N	\N	EFO	6	EFO	process	comparative genomic hybridization by array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000749	"An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria." []	5059308	\N	\N	EFO	7	EFO	experimental factor	comparative genomic hybridization by array
EFO:0000750	\N	\N	"An assay in which variation in a part of or the whole genome is analysed" []	EFO:0000750	"An assay in which variation in a part of or the whole genome is analysed" []	64433	\N	\N	EFO	0	EFO	genotyping	genotyping
EFO:0002694	EFO:0000750	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000750	"An assay in which variation in a part of or the whole genome is analysed" []	204926	\N	\N	EFO	1	EFO	experimental process	genotyping
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000750	"An assay in which variation in a part of or the whole genome is analysed" []	558015	\N	\N	EFO	2	EFO	planned process	genotyping
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000750	"An assay in which variation in a part of or the whole genome is analysed" []	1140330	\N	\N	EFO	3	EFO	process	genotyping
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000750	"An assay in which variation in a part of or the whole genome is analysed" []	2023334	\N	\N	EFO	4	EFO	experimental factor	genotyping
EFO:0000751	\N	\N	"An assay in which the methylation state is determined and is compared between samples." []	EFO:0000751	"An assay in which the methylation state is determined and is compared between samples." []	64434	\N	\N	EFO	0	EFO	methylation profiling	methylation profiling
EFO:0002694	EFO:0000751	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000751	"An assay in which the methylation state is determined and is compared between samples." []	204927	\N	\N	EFO	1	EFO	experimental process	methylation profiling
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000751	"An assay in which the methylation state is determined and is compared between samples." []	558016	\N	\N	EFO	2	EFO	planned process	methylation profiling
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000751	"An assay in which the methylation state is determined and is compared between samples." []	1140331	\N	\N	EFO	3	EFO	process	methylation profiling
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000751	"An assay in which the methylation state is determined and is compared between samples." []	2023335	\N	\N	EFO	4	EFO	experimental factor	methylation profiling
EFO:0000752	\N	\N	"An assay in which one or more metabolites are analysed." []	EFO:0000752	"An assay in which one or more metabolites are analysed." []	64435	\N	\N	EFO	0	EFO	metabolomic profiling	metabolomic profiling
EFO:0002772	EFO:0000752	\N	"" []	EFO:0000752	"An assay in which one or more metabolites are analysed." []	204928	\N	\N	EFO	1	EFO	assay by molecule	metabolomic profiling
EFO:0004120	EFO:0000752	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0000752	"An assay in which one or more metabolites are analysed." []	204929	\N	\N	EFO	1	EFO	ArrayExpress experiment type	metabolomic profiling
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0000752	"An assay in which one or more metabolites are analysed." []	558017	\N	\N	EFO	2	EFO	assay	metabolomic profiling
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000752	"An assay in which one or more metabolites are analysed." []	558018	\N	\N	EFO	2	EFO	experimental process	metabolomic profiling
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000752	"An assay in which one or more metabolites are analysed." []	1140332	\N	\N	EFO	3	EFO	experimental process	metabolomic profiling
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000752	"An assay in which one or more metabolites are analysed." []	2023336	\N	\N	EFO	4	EFO	planned process	metabolomic profiling
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000752	"An assay in which one or more metabolites are analysed." []	2999250	\N	\N	EFO	5	EFO	process	metabolomic profiling
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000752	"An assay in which one or more metabolites are analysed." []	4132563	\N	\N	EFO	6	EFO	experimental factor	metabolomic profiling
EFO:0000753	\N	\N	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	64436	\N	\N	EFO	0	EFO	microRNA profiling by array	microRNA profiling by array
EFO:0001457	EFO:0000753	\N	"An assay with input RNA" []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	204930	\N	\N	EFO	1	EFO	RNA assay	microRNA profiling by array
EFO:0002696	EFO:0000753	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	204931	\N	\N	EFO	1	EFO	assay by array	microRNA profiling by array
EFO:0004108	EFO:0000753	\N	"Experiment type permitted in Atlas" []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	204932	\N	\N	EFO	1	EFO	Atlas experiment type	microRNA profiling by array
EFO:0004120	EFO:0000753	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	204933	\N	\N	EFO	1	EFO	ArrayExpress experiment type	microRNA profiling by array
EFO:0002772	EFO:0001457	\N	"" []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	558019	\N	\N	EFO	2	EFO	assay by molecule	microRNA profiling by array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	558020	\N	\N	EFO	2	EFO	assay by instrument	microRNA profiling by array
EFO:0002694	EFO:0004108	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	558021	\N	\N	EFO	2	EFO	experimental process	microRNA profiling by array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	558022	\N	\N	EFO	2	EFO	experimental process	microRNA profiling by array
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	1140334	\N	\N	EFO	3	EFO	assay	microRNA profiling by array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	1140335	\N	\N	EFO	3	EFO	assay	microRNA profiling by array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	3177246	\N	\N	EFO	5	EFO	planned process	microRNA profiling by array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	2023338	\N	\N	EFO	4	EFO	experimental process	microRNA profiling by array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	4066671	\N	\N	EFO	6	EFO	process	microRNA profiling by array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000753	"An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome." []	5059309	\N	\N	EFO	7	EFO	experimental factor	microRNA profiling by array
EFO:0000756	\N	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	64437	\N	\N	EFO	0	EFO	melanoma	melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	204934	\N	\N	EFO	1	EFO	carcinoma	melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	204935	\N	\N	EFO	1	EFO	skin neoplasm	melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	558023	\N	\N	EFO	2	EFO	cancer	melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	558024	\N	\N	EFO	2	EFO	epithelial neoplasm	melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	558025	\N	\N	EFO	2	EFO	neoplasm	melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	558026	\N	\N	EFO	2	EFO	skin disease	melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	1140337	\N	\N	EFO	3	EFO	neoplasm	melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	1140338	\N	\N	EFO	3	EFO	neoplasm	melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	2023340	\N	\N	EFO	4	EFO	disease	melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	1140340	\N	\N	EFO	3	EFO	disease	melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	2999251	\N	\N	EFO	5	EFO	disposition	melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	4132564	\N	\N	EFO	6	EFO	material property	melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000756	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	5180914	\N	\N	EFO	7	EFO	experimental factor	melanoma
EFO:0000759	\N	\N	"A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." []	EFO:0000759	"A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." []	64438	\N	\N	EFO	0	EFO	lipoma	lipoma
EFO:0002422	EFO:0000759	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0000759	"A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." []	204936	\N	\N	EFO	1	EFO	benign neoplasm	lipoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000759	"A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." []	558027	\N	\N	EFO	2	EFO	neoplasm	lipoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000759	"A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." []	1140341	\N	\N	EFO	3	EFO	disease	lipoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000759	"A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." []	2023342	\N	\N	EFO	4	EFO	disposition	lipoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000759	"A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." []	3177249	\N	\N	EFO	5	EFO	material property	lipoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000759	"A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." []	4387667	\N	\N	EFO	6	EFO	experimental factor	lipoma
EFO:0000760	\N	\N	"Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." []	EFO:0000760	"Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." []	64439	\N	\N	EFO	0	EFO	malignant peripheral nerve sheath tumor	malignant peripheral nerve sheath tumor
EFO:0002431	EFO:0000760	\N	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	EFO:0000760	"Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." []	204937	\N	\N	EFO	1	EFO	tumour of cranial and spinal nerves	malignant peripheral nerve sheath tumor
EFO:0000311	EFO:0002431	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000760	"Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." []	558028	\N	\N	EFO	2	EFO	cancer	malignant peripheral nerve sheath tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000760	"Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." []	1140342	\N	\N	EFO	3	EFO	neoplasm	malignant peripheral nerve sheath tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000760	"Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." []	2023343	\N	\N	EFO	4	EFO	disease	malignant peripheral nerve sheath tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000760	"Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." []	3177250	\N	\N	EFO	5	EFO	disposition	malignant peripheral nerve sheath tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000760	"Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." []	4387668	\N	\N	EFO	6	EFO	material property	malignant peripheral nerve sheath tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000760	"Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." []	5408577	\N	\N	EFO	7	EFO	experimental factor	malignant peripheral nerve sheath tumor
EFO:0000762	\N	\N	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	64440	\N	\N	EFO	0	EFO	hepatocellular adenoma	hepatocellular adenoma
EFO:0000232	EFO:0000762	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	204938	\N	\N	EFO	1	EFO	adenoma	hepatocellular adenoma
EFO:1001513	EFO:0000762	\N	"Tumors or cancers of the LIVER." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	204939	\N	\N	EFO	1	EFO	liver neoplasm	hepatocellular adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	558029	\N	\N	EFO	2	EFO	benign neoplasm	hepatocellular adenoma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	558030	\N	\N	EFO	2	EFO	liver disease	hepatocellular adenoma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	558031	\N	\N	EFO	2	EFO	endocrine neoplasm	hepatocellular adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	1140343	\N	\N	EFO	3	EFO	neoplasm	hepatocellular adenoma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	1140344	\N	\N	EFO	3	EFO	digestive system disease	hepatocellular adenoma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	1140345	\N	\N	EFO	3	EFO	endocrine system disease	hepatocellular adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	1140346	\N	\N	EFO	3	EFO	neoplasm	hepatocellular adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	1140347	\N	\N	EFO	3	EFO	endocrine system disease	hepatocellular adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	2023344	\N	\N	EFO	4	EFO	disease	hepatocellular adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	2023345	\N	\N	EFO	4	EFO	disease	hepatocellular adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	2023346	\N	\N	EFO	4	EFO	disease	hepatocellular adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	3177251	\N	\N	EFO	5	EFO	disposition	hepatocellular adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	4387669	\N	\N	EFO	6	EFO	material property	hepatocellular adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000762	"A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." []	5408578	\N	\N	EFO	7	EFO	experimental factor	hepatocellular adenoma
EFO:0000763	\N	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0000763	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	64441	\N	\N	EFO	0	EFO	viral disease	viral disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000763	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	204940	\N	\N	EFO	1	EFO	infectious disease	viral disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000763	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	558032	\N	\N	EFO	2	EFO	disease	viral disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000763	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	1140348	\N	\N	EFO	3	EFO	disposition	viral disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000763	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	2023347	\N	\N	EFO	4	EFO	material property	viral disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000763	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	3177252	\N	\N	EFO	5	EFO	experimental factor	viral disease
EFO:0000764	\N	\N	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	EFO:0000764	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	64442	\N	\N	EFO	0	EFO	HIV infection	HIV infection
EFO:0000763	EFO:0000764	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0000764	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	204941	\N	\N	EFO	1	EFO	viral disease	HIV infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000764	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	558033	\N	\N	EFO	2	EFO	infectious disease	HIV infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000764	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	1140349	\N	\N	EFO	3	EFO	disease	HIV infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000764	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	2023348	\N	\N	EFO	4	EFO	disposition	HIV infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000764	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	3177253	\N	\N	EFO	5	EFO	material property	HIV infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000764	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	4387670	\N	\N	EFO	6	EFO	experimental factor	HIV infection
EFO:0000765	\N	\N	"An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse." []	EFO:0000765	"An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse." []	64443	\N	\N	EFO	0	EFO	AIDS	AIDS
EFO:0000764	EFO:0000765	\N	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	EFO:0000765	"An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse." []	204942	\N	\N	EFO	1	EFO	HIV infection	AIDS
EFO:0000763	EFO:0000764	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0000765	"An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse." []	558034	\N	\N	EFO	2	EFO	viral disease	AIDS
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000765	"An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse." []	1140350	\N	\N	EFO	3	EFO	infectious disease	AIDS
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000765	"An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse." []	2023349	\N	\N	EFO	4	EFO	disease	AIDS
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000765	"An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse." []	3177254	\N	\N	EFO	5	EFO	disposition	AIDS
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000765	"An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse." []	4387671	\N	\N	EFO	6	EFO	material property	AIDS
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000765	"An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse." []	5408579	\N	\N	EFO	7	EFO	experimental factor	AIDS
EFO:0000767	\N	\N	"A disease of the heart muscle or myocardium proper whose cause is unknown." []	EFO:0000767	"A disease of the heart muscle or myocardium proper whose cause is unknown." []	64444	\N	\N	EFO	0	EFO	idiopathic cardiomyopathy	idiopathic cardiomyopathy
EFO:0000318	EFO:0000767	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:0000767	"A disease of the heart muscle or myocardium proper whose cause is unknown." []	204943	\N	\N	EFO	1	EFO	cardiomyopathy	idiopathic cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0000767	"A disease of the heart muscle or myocardium proper whose cause is unknown." []	558035	\N	\N	EFO	2	EFO	heart disease	idiopathic cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0000767	"A disease of the heart muscle or myocardium proper whose cause is unknown." []	1140351	\N	\N	EFO	3	EFO	cardiovascular disease	idiopathic cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000767	"A disease of the heart muscle or myocardium proper whose cause is unknown." []	2023350	\N	\N	EFO	4	EFO	disease	idiopathic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000767	"A disease of the heart muscle or myocardium proper whose cause is unknown." []	3177255	\N	\N	EFO	5	EFO	disposition	idiopathic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000767	"A disease of the heart muscle or myocardium proper whose cause is unknown." []	4387672	\N	\N	EFO	6	EFO	material property	idiopathic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000767	"A disease of the heart muscle or myocardium proper whose cause is unknown." []	5408580	\N	\N	EFO	7	EFO	experimental factor	idiopathic cardiomyopathy
EFO:0000768	\N	\N	"Chronic and progressive fibrosis of the lung parenchyma of unknown cause." []	EFO:0000768	"Chronic and progressive fibrosis of the lung parenchyma of unknown cause." []	64445	\N	\N	EFO	0	EFO	idiopathic pulmonary fibrosis	idiopathic pulmonary fibrosis
EFO:0003818	EFO:0000768	\N	"Pathological processes involving any part of the LUNG." []	EFO:0000768	"Chronic and progressive fibrosis of the lung parenchyma of unknown cause." []	204944	\N	\N	EFO	1	EFO	lung disease	idiopathic pulmonary fibrosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000768	"Chronic and progressive fibrosis of the lung parenchyma of unknown cause." []	558036	\N	\N	EFO	2	EFO	respiratory system disease	idiopathic pulmonary fibrosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000768	"Chronic and progressive fibrosis of the lung parenchyma of unknown cause." []	1140352	\N	\N	EFO	3	EFO	disease	idiopathic pulmonary fibrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000768	"Chronic and progressive fibrosis of the lung parenchyma of unknown cause." []	2023351	\N	\N	EFO	4	EFO	disposition	idiopathic pulmonary fibrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000768	"Chronic and progressive fibrosis of the lung parenchyma of unknown cause." []	3177256	\N	\N	EFO	5	EFO	material property	idiopathic pulmonary fibrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000768	"Chronic and progressive fibrosis of the lung parenchyma of unknown cause." []	4387673	\N	\N	EFO	6	EFO	experimental factor	idiopathic pulmonary fibrosis
EFO:0000769	\N	\N	"Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY)." []	EFO:0000769	"Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY)." []	64446	\N	\N	EFO	0	EFO	Epstein-Barr virus infection	Epstein-Barr virus infection
EFO:0000763	EFO:0000769	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0000769	"Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY)." []	204945	\N	\N	EFO	1	EFO	viral disease	Epstein-Barr virus infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000769	"Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY)." []	558037	\N	\N	EFO	2	EFO	infectious disease	Epstein-Barr virus infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000769	"Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY)." []	1140353	\N	\N	EFO	3	EFO	disease	Epstein-Barr virus infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000769	"Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY)." []	2023352	\N	\N	EFO	4	EFO	disposition	Epstein-Barr virus infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000769	"Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY)." []	3177257	\N	\N	EFO	5	EFO	material property	Epstein-Barr virus infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000769	"Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY)." []	4387674	\N	\N	EFO	6	EFO	experimental factor	Epstein-Barr virus infection
EFO:0000770	\N	\N	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	EFO:0000770	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	64447	\N	\N	EFO	0	EFO	malignant pleural mesothelioma	malignant pleural mesothelioma
EFO:0000588	EFO:0000770	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:0000770	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	204946	\N	\N	EFO	1	EFO	mesothelioma	malignant pleural mesothelioma
EFO:0003853	EFO:0000770	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0000770	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	204947	\N	\N	EFO	1	EFO	respiratory system neoplasm	malignant pleural mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0000770	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	558038	\N	\N	EFO	2	EFO	cancer	malignant pleural mesothelioma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000770	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	558039	\N	\N	EFO	2	EFO	neoplasm	malignant pleural mesothelioma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0000770	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	558040	\N	\N	EFO	2	EFO	respiratory system disease	malignant pleural mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0000770	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	1140354	\N	\N	EFO	3	EFO	neoplasm	malignant pleural mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000770	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	2023353	\N	\N	EFO	4	EFO	disease	malignant pleural mesothelioma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000770	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	1140356	\N	\N	EFO	3	EFO	disease	malignant pleural mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000770	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	2999252	\N	\N	EFO	5	EFO	disposition	malignant pleural mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000770	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	4132565	\N	\N	EFO	6	EFO	material property	malignant pleural mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000770	"A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." []	5180915	\N	\N	EFO	7	EFO	experimental factor	malignant pleural mesothelioma
EFO:0000771	\N	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0000771	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	64448	\N	\N	EFO	0	EFO	bacterial disease	bacterial disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000771	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	204948	\N	\N	EFO	1	EFO	infectious disease	bacterial disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000771	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	558041	\N	\N	EFO	2	EFO	disease	bacterial disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000771	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	1140357	\N	\N	EFO	3	EFO	disposition	bacterial disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000771	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	2023355	\N	\N	EFO	4	EFO	material property	bacterial disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000771	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	3177259	\N	\N	EFO	5	EFO	experimental factor	bacterial disease
EFO:0000772	\N	\N	"Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." []	EFO:0000772	"Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." []	64449	\N	\N	EFO	0	EFO	pneumococcal infection	pneumococcal infection
EFO:0000771	EFO:0000772	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0000772	"Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." []	204949	\N	\N	EFO	1	EFO	bacterial disease	pneumococcal infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000772	"Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." []	558042	\N	\N	EFO	2	EFO	infectious disease	pneumococcal infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000772	"Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." []	1140358	\N	\N	EFO	3	EFO	disease	pneumococcal infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000772	"Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." []	2023356	\N	\N	EFO	4	EFO	disposition	pneumococcal infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000772	"Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." []	3177260	\N	\N	EFO	5	EFO	material property	pneumococcal infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000772	"Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." []	4387676	\N	\N	EFO	6	EFO	experimental factor	pneumococcal infection
EFO:0000773	\N	\N	"A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" []	EFO:0000773	"A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" []	64450	\N	\N	EFO	0	EFO	temporal lobe epilepsy	temporal lobe epilepsy
EFO:0004263	EFO:0000773	\N	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	EFO:0000773	"A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" []	204950	\N	\N	EFO	1	EFO	partial epilepsy	temporal lobe epilepsy
EFO:0000474	EFO:0004263	\N	"A disorder characterized by recurrent seizures" []	EFO:0000773	"A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" []	558043	\N	\N	EFO	2	EFO	epilepsy	temporal lobe epilepsy
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:0000773	"A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" []	1140359	\N	\N	EFO	3	EFO	brain disease	temporal lobe epilepsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0000773	"A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" []	2023357	\N	\N	EFO	4	EFO	nervous system disease	temporal lobe epilepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000773	"A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" []	3177261	\N	\N	EFO	5	EFO	disease	temporal lobe epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000773	"A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" []	4387677	\N	\N	EFO	6	EFO	disposition	temporal lobe epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000773	"A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" []	5408581	\N	\N	EFO	7	EFO	material property	temporal lobe epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000773	"A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" []	6147425	\N	\N	EFO	8	EFO	experimental factor	temporal lobe epilepsy
EFO:0000775	\N	\N	"A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." []	EFO:0000775	"A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." []	64451	\N	\N	EFO	0	EFO	Whipple's disease	Whipple's disease
EFO:0000405	EFO:0000775	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0000775	"A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." []	204951	\N	\N	EFO	1	EFO	digestive system disease	Whipple's disease
EFO:0000771	EFO:0000775	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0000775	"A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." []	204952	\N	\N	EFO	1	EFO	bacterial disease	Whipple's disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000775	"A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." []	558044	\N	\N	EFO	2	EFO	disease	Whipple's disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000775	"A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." []	558045	\N	\N	EFO	2	EFO	infectious disease	Whipple's disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000775	"A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." []	2023359	\N	\N	EFO	4	EFO	disposition	Whipple's disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000775	"A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." []	1140361	\N	\N	EFO	3	EFO	disease	Whipple's disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000775	"A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." []	2999253	\N	\N	EFO	5	EFO	material property	Whipple's disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000775	"A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." []	4132566	\N	\N	EFO	6	EFO	experimental factor	Whipple's disease
EFO:0000776	\N	\N	"Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." []	EFO:0000776	"Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." []	64452	\N	\N	EFO	0	EFO	Aeromonas hydrophila infection	Aeromonas hydrophila infection
EFO:0000771	EFO:0000776	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0000776	"Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." []	204953	\N	\N	EFO	1	EFO	bacterial disease	Aeromonas hydrophila infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000776	"Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." []	558046	\N	\N	EFO	2	EFO	infectious disease	Aeromonas hydrophila infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000776	"Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." []	1140362	\N	\N	EFO	3	EFO	disease	Aeromonas hydrophila infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000776	"Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." []	2023360	\N	\N	EFO	4	EFO	disposition	Aeromonas hydrophila infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000776	"Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." []	3177263	\N	\N	EFO	5	EFO	material property	Aeromonas hydrophila infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000776	"Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." []	4387678	\N	\N	EFO	6	EFO	experimental factor	Aeromonas hydrophila infection
EFO:0000777	\N	\N	"An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash" []	EFO:0000777	"An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash" []	64453	\N	\N	EFO	0	EFO	human granulocytic anaplasmosis	human granulocytic anaplasmosis
EFO:0000771	EFO:0000777	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0000777	"An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash" []	204954	\N	\N	EFO	1	EFO	bacterial disease	human granulocytic anaplasmosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000777	"An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash" []	558047	\N	\N	EFO	2	EFO	infectious disease	human granulocytic anaplasmosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000777	"An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash" []	1140363	\N	\N	EFO	3	EFO	disease	human granulocytic anaplasmosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000777	"An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash" []	2023361	\N	\N	EFO	4	EFO	disposition	human granulocytic anaplasmosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000777	"An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash" []	3177264	\N	\N	EFO	5	EFO	material property	human granulocytic anaplasmosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000777	"An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash" []	4387679	\N	\N	EFO	6	EFO	experimental factor	human granulocytic anaplasmosis
EFO:0000778	\N	\N	"A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath." []	EFO:0000778	"A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath." []	64454	\N	\N	EFO	0	EFO	anthrax infection	anthrax infection
EFO:0000771	EFO:0000778	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0000778	"A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath." []	204955	\N	\N	EFO	1	EFO	bacterial disease	anthrax infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000778	"A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath." []	558048	\N	\N	EFO	2	EFO	infectious disease	anthrax infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000778	"A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath." []	1140364	\N	\N	EFO	3	EFO	disease	anthrax infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000778	"A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath." []	2023362	\N	\N	EFO	4	EFO	disposition	anthrax infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000778	"A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath." []	3177265	\N	\N	EFO	5	EFO	material property	anthrax infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000778	"A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath." []	4387680	\N	\N	EFO	6	EFO	experimental factor	anthrax infection
EFO:0000779	\N	\N	"A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." []	EFO:0000779	"A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." []	64455	\N	\N	EFO	0	EFO	Drosophila C virus infection	Drosophila C virus infection
EFO:0000763	EFO:0000779	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0000779	"A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." []	204956	\N	\N	EFO	1	EFO	viral disease	Drosophila C virus infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000779	"A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." []	558049	\N	\N	EFO	2	EFO	infectious disease	Drosophila C virus infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000779	"A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." []	1140365	\N	\N	EFO	3	EFO	disease	Drosophila C virus infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000779	"A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." []	2023363	\N	\N	EFO	4	EFO	disposition	Drosophila C virus infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000779	"A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." []	3177266	\N	\N	EFO	5	EFO	material property	Drosophila C virus infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000779	"A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." []	4387681	\N	\N	EFO	6	EFO	experimental factor	Drosophila C virus infection
EFO:0000780	\N	\N	"A bacterial infection induced by Enterococcus faecalis which is  the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." []	EFO:0000780	"A bacterial infection induced by Enterococcus faecalis which is  the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." []	64456	\N	\N	EFO	0	EFO	Enterococcus faecalis infection	Enterococcus faecalis infection
EFO:0000771	EFO:0000780	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0000780	"A bacterial infection induced by Enterococcus faecalis which is  the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." []	204957	\N	\N	EFO	1	EFO	bacterial disease	Enterococcus faecalis infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000780	"A bacterial infection induced by Enterococcus faecalis which is  the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." []	558050	\N	\N	EFO	2	EFO	infectious disease	Enterococcus faecalis infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000780	"A bacterial infection induced by Enterococcus faecalis which is  the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." []	1140366	\N	\N	EFO	3	EFO	disease	Enterococcus faecalis infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000780	"A bacterial infection induced by Enterococcus faecalis which is  the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." []	2023364	\N	\N	EFO	4	EFO	disposition	Enterococcus faecalis infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000780	"A bacterial infection induced by Enterococcus faecalis which is  the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." []	3177267	\N	\N	EFO	5	EFO	material property	Enterococcus faecalis infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000780	"A bacterial infection induced by Enterococcus faecalis which is  the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." []	4387682	\N	\N	EFO	6	EFO	experimental factor	Enterococcus faecalis infection
EFO:0000781	\N	\N	"A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \\"bacterial soft rot\\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens  Fe acquisition, LPS integrity, multiple global regulatory systems)." []	EFO:0000781	"A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \\"bacterial soft rot\\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens  Fe acquisition, LPS integrity, multiple global regulatory systems)." []	64457	\N	\N	EFO	0	EFO	Pectobacterium carotovorum infection	Pectobacterium carotovorum infection
EFO:0000771	EFO:0000781	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0000781	"A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \\"bacterial soft rot\\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens  Fe acquisition, LPS integrity, multiple global regulatory systems)." []	204958	\N	\N	EFO	1	EFO	bacterial disease	Pectobacterium carotovorum infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000781	"A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \\"bacterial soft rot\\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens  Fe acquisition, LPS integrity, multiple global regulatory systems)." []	558051	\N	\N	EFO	2	EFO	infectious disease	Pectobacterium carotovorum infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000781	"A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \\"bacterial soft rot\\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens  Fe acquisition, LPS integrity, multiple global regulatory systems)." []	1140367	\N	\N	EFO	3	EFO	disease	Pectobacterium carotovorum infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000781	"A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \\"bacterial soft rot\\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens  Fe acquisition, LPS integrity, multiple global regulatory systems)." []	2023365	\N	\N	EFO	4	EFO	disposition	Pectobacterium carotovorum infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000781	"A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \\"bacterial soft rot\\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens  Fe acquisition, LPS integrity, multiple global regulatory systems)." []	3177268	\N	\N	EFO	5	EFO	material property	Pectobacterium carotovorum infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000781	"A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \\"bacterial soft rot\\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens  Fe acquisition, LPS integrity, multiple global regulatory systems)." []	4387683	\N	\N	EFO	6	EFO	experimental factor	Pectobacterium carotovorum infection
EFO:0000782	\N	\N	"\\"A virus infection caused by hibiscus chlorotic ringspot virus. Symptoms induced by HCRSV in naturally infected Hibiscus rosa-sinensis differ considerably; they vary depending on the tolerance of the cultivar and environmental conditions, although duration of infection, and possibly, virulence of the virus isolate also might affect symptom severity (Waterworth et al., 1976; Waterworth, 1980; Raju, 1985). In some cultivars HCRSV induces chlorotic spots in leaves, but in most it induces leaf mottling and/or chlorotic rings. Some cultivars develop no conspicuous symptoms, especially at high average ambient temperatures such as those in summer in Florida (Raju, 1985). Flowers remain symptomless.\\nLeaves of infected Abelmoschus manihot plants are usually chlorotic, and the chlorosis is more conspicuous when HCRSV occurs in complex with other viruses (AA Brunt and RS Phillips, Horticulture Research International, Wellesbourne, UK, personal communication, 1993).\\"" []	EFO:0000782	"\\"A virus infection caused by hibiscus chlorotic ringspot virus. Symptoms induced by HCRSV in naturally infected Hibiscus rosa-sinensis differ considerably; they vary depending on the tolerance of the cultivar and environmental conditions, although duration of infection, and possibly, virulence of the virus isolate also might affect symptom severity (Waterworth et al., 1976; Waterworth, 1980; Raju, 1985). In some cultivars HCRSV induces chlorotic spots in leaves, but in most it induces leaf mottling and/or chlorotic rings. Some cultivars develop no conspicuous symptoms, especially at high average ambient temperatures such as those in summer in Florida (Raju, 1985). Flowers remain symptomless.\\nLeaves of infected Abelmoschus manihot plants are usually chlorotic, and the chlorosis is more conspicuous when HCRSV occurs in complex with other viruses (AA Brunt and RS Phillips, Horticulture Research International, Wellesbourne, UK, personal communication, 1993).\\"" []	64458	\N	\N	EFO	0	EFO	Hibiscus chlorotic ringspot virus infection	Hibiscus chlorotic ringspot virus infection
EFO:0000763	EFO:0000782	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0000782	"\\"A virus infection caused by hibiscus chlorotic ringspot virus. Symptoms induced by HCRSV in naturally infected Hibiscus rosa-sinensis differ considerably; they vary depending on the tolerance of the cultivar and environmental conditions, although duration of infection, and possibly, virulence of the virus isolate also might affect symptom severity (Waterworth et al., 1976; Waterworth, 1980; Raju, 1985). In some cultivars HCRSV induces chlorotic spots in leaves, but in most it induces leaf mottling and/or chlorotic rings. Some cultivars develop no conspicuous symptoms, especially at high average ambient temperatures such as those in summer in Florida (Raju, 1985). Flowers remain symptomless.\\nLeaves of infected Abelmoschus manihot plants are usually chlorotic, and the chlorosis is more conspicuous when HCRSV occurs in complex with other viruses (AA Brunt and RS Phillips, Horticulture Research International, Wellesbourne, UK, personal communication, 1993).\\"" []	204959	\N	\N	EFO	1	EFO	viral disease	Hibiscus chlorotic ringspot virus infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0000782	"\\"A virus infection caused by hibiscus chlorotic ringspot virus. Symptoms induced by HCRSV in naturally infected Hibiscus rosa-sinensis differ considerably; they vary depending on the tolerance of the cultivar and environmental conditions, although duration of infection, and possibly, virulence of the virus isolate also might affect symptom severity (Waterworth et al., 1976; Waterworth, 1980; Raju, 1985). In some cultivars HCRSV induces chlorotic spots in leaves, but in most it induces leaf mottling and/or chlorotic rings. Some cultivars develop no conspicuous symptoms, especially at high average ambient temperatures such as those in summer in Florida (Raju, 1985). Flowers remain symptomless.\\nLeaves of infected Abelmoschus manihot plants are usually chlorotic, and the chlorosis is more conspicuous when HCRSV occurs in complex with other viruses (AA Brunt and RS Phillips, Horticulture Research International, Wellesbourne, UK, personal communication, 1993).\\"" []	558052	\N	\N	EFO	2	EFO	infectious disease	Hibiscus chlorotic ringspot virus infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000782	"\\"A virus infection caused by hibiscus chlorotic ringspot virus. Symptoms induced by HCRSV in naturally infected Hibiscus rosa-sinensis differ considerably; they vary depending on the tolerance of the cultivar and environmental conditions, although duration of infection, and possibly, virulence of the virus isolate also might affect symptom severity (Waterworth et al., 1976; Waterworth, 1980; Raju, 1985). In some cultivars HCRSV induces chlorotic spots in leaves, but in most it induces leaf mottling and/or chlorotic rings. Some cultivars develop no conspicuous symptoms, especially at high average ambient temperatures such as those in summer in Florida (Raju, 1985). Flowers remain symptomless.\\nLeaves of infected Abelmoschus manihot plants are usually chlorotic, and the chlorosis is more conspicuous when HCRSV occurs in complex with other viruses (AA Brunt and RS Phillips, Horticulture Research International, Wellesbourne, UK, personal communication, 1993).\\"" []	1140368	\N	\N	EFO	3	EFO	disease	Hibiscus chlorotic ringspot virus infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000782	"\\"A virus infection caused by hibiscus chlorotic ringspot virus. Symptoms induced by HCRSV in naturally infected Hibiscus rosa-sinensis differ considerably; they vary depending on the tolerance of the cultivar and environmental conditions, although duration of infection, and possibly, virulence of the virus isolate also might affect symptom severity (Waterworth et al., 1976; Waterworth, 1980; Raju, 1985). In some cultivars HCRSV induces chlorotic spots in leaves, but in most it induces leaf mottling and/or chlorotic rings. Some cultivars develop no conspicuous symptoms, especially at high average ambient temperatures such as those in summer in Florida (Raju, 1985). Flowers remain symptomless.\\nLeaves of infected Abelmoschus manihot plants are usually chlorotic, and the chlorosis is more conspicuous when HCRSV occurs in complex with other viruses (AA Brunt and RS Phillips, Horticulture Research International, Wellesbourne, UK, personal communication, 1993).\\"" []	2023366	\N	\N	EFO	4	EFO	disposition	Hibiscus chlorotic ringspot virus infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000782	"\\"A virus infection caused by hibiscus chlorotic ringspot virus. Symptoms induced by HCRSV in naturally infected Hibiscus rosa-sinensis differ considerably; they vary depending on the tolerance of the cultivar and environmental conditions, although duration of infection, and possibly, virulence of the virus isolate also might affect symptom severity (Waterworth et al., 1976; Waterworth, 1980; Raju, 1985). In some cultivars HCRSV induces chlorotic spots in leaves, but in most it induces leaf mottling and/or chlorotic rings. Some cultivars develop no conspicuous symptoms, especially at high average ambient temperatures such as those in summer in Florida (Raju, 1985). Flowers remain symptomless.\\nLeaves of infected Abelmoschus manihot plants are usually chlorotic, and the chlorosis is more conspicuous when HCRSV occurs in complex with other viruses (AA Brunt and RS Phillips, Horticulture Research International, Wellesbourne, UK, personal communication, 1993).\\"" []	3177269	\N	\N	EFO	5	EFO	material property	Hibiscus chlorotic ringspot virus infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000782	"\\"A virus infection caused by hibiscus chlorotic ringspot virus. Symptoms induced by HCRSV in naturally infected Hibiscus rosa-sinensis differ considerably; they vary depending on the tolerance of the cultivar and environmental conditions, although duration of infection, and possibly, virulence of the virus isolate also might affect symptom severity (Waterworth et al., 1976; Waterworth, 1980; Raju, 1985). In some cultivars HCRSV induces chlorotic spots in leaves, but in most it induces leaf mottling and/or chlorotic rings. Some cultivars develop no conspicuous symptoms, especially at high average ambient temperatures such as those in summer in Florida (Raju, 1985). Flowers remain symptomless.\\nLeaves of infected Abelmoschus manihot plants are usually chlorotic, and the chlorosis is more conspicuous when HCRSV occurs in complex with other viruses (AA Brunt and RS Phillips, Horticulture Research International, Wellesbourne, UK, personal communication, 1993).\\"" []	4387684	\N	\N	EFO	6	EFO	experimental factor	Hibiscus chlorotic ringspot virus infection
EFO:0000783	\N	\N	"Inflammation of a muscle or muscle tissue." []	EFO:0000783	"Inflammation of a muscle or muscle tissue." []	64459	\N	\N	EFO	0	EFO	myositis	myositis
EFO:0000540	EFO:0000783	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0000783	"Inflammation of a muscle or muscle tissue." []	204960	\N	\N	EFO	1	EFO	immune system disease	myositis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0000783	"Inflammation of a muscle or muscle tissue." []	558053	\N	\N	EFO	2	EFO	disease	myositis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0000783	"Inflammation of a muscle or muscle tissue." []	1140369	\N	\N	EFO	3	EFO	disposition	myositis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0000783	"Inflammation of a muscle or muscle tissue." []	2023367	\N	\N	EFO	4	EFO	material property	myositis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000783	"Inflammation of a muscle or muscle tissue." []	3177270	\N	\N	EFO	5	EFO	experimental factor	myositis
EFO:0000786	\N	\N	"" []	EFO:0000786	"" []	64460	\N	\N	EFO	0	EFO	anatomy basic component	anatomy basic component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000786	"" []	204961	\N	\N	EFO	1	EFO	organism part	anatomy basic component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000786	"" []	558054	\N	\N	EFO	2	EFO	material entity	anatomy basic component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000786	"" []	1140370	\N	\N	EFO	3	EFO	experimental factor	anatomy basic component
EFO:0000787	\N	\N	"" []	EFO:0000787	"" []	64461	\N	\N	EFO	0	EFO	animal component	animal component
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000787	"" []	204962	\N	\N	EFO	1	EFO	anatomy basic component	animal component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000787	"" []	558055	\N	\N	EFO	2	EFO	organism part	animal component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000787	"" []	1140371	\N	\N	EFO	3	EFO	material entity	animal component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000787	"" []	2023368	\N	\N	EFO	4	EFO	experimental factor	animal component
EFO:0000788	\N	\N	"" []	EFO:0000788	"" []	64462	\N	\N	EFO	0	EFO	fungal component	fungal component
EFO:0000786	EFO:0000788	\N	"" []	EFO:0000788	"" []	204963	\N	\N	EFO	1	EFO	anatomy basic component	fungal component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000788	"" []	558056	\N	\N	EFO	2	EFO	organism part	fungal component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000788	"" []	1140372	\N	\N	EFO	3	EFO	material entity	fungal component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000788	"" []	2023369	\N	\N	EFO	4	EFO	experimental factor	fungal component
EFO:0000789	\N	\N	"" []	EFO:0000789	"" []	64463	\N	\N	EFO	0	EFO	plant component	plant component
EFO:0000786	EFO:0000789	\N	"" []	EFO:0000789	"" []	204964	\N	\N	EFO	1	EFO	anatomy basic component	plant component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000789	"" []	558057	\N	\N	EFO	2	EFO	organism part	plant component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000789	"" []	1140373	\N	\N	EFO	3	EFO	material entity	plant component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000789	"" []	2023370	\N	\N	EFO	4	EFO	experimental factor	plant component
EFO:0000792	\N	\N	"The larval cranium exclusive of the dorsal apotome." []	EFO:0000792	"The larval cranium exclusive of the dorsal apotome." []	64464	\N	\N	EFO	0	EFO	craniofacial tissue	craniofacial tissue
EFO:0000787	EFO:0000792	\N	"" []	EFO:0000792	"The larval cranium exclusive of the dorsal apotome." []	204965	\N	\N	EFO	1	EFO	animal component	craniofacial tissue
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000792	"The larval cranium exclusive of the dorsal apotome." []	558058	\N	\N	EFO	2	EFO	anatomy basic component	craniofacial tissue
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000792	"The larval cranium exclusive of the dorsal apotome." []	1140374	\N	\N	EFO	3	EFO	organism part	craniofacial tissue
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000792	"The larval cranium exclusive of the dorsal apotome." []	2023371	\N	\N	EFO	4	EFO	material entity	craniofacial tissue
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000792	"The larval cranium exclusive of the dorsal apotome." []	3177271	\N	\N	EFO	5	EFO	experimental factor	craniofacial tissue
EFO:0000795	\N	\N	"Embryonic structure (body structure)" []	EFO:0000795	"Embryonic structure (body structure)" []	64465	\N	\N	EFO	0	EFO	animal developmental tissue	animal developmental tissue
EFO:0000787	EFO:0000795	\N	"" []	EFO:0000795	"Embryonic structure (body structure)" []	204966	\N	\N	EFO	1	EFO	animal component	animal developmental tissue
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000795	"Embryonic structure (body structure)" []	558059	\N	\N	EFO	2	EFO	anatomy basic component	animal developmental tissue
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000795	"Embryonic structure (body structure)" []	1140375	\N	\N	EFO	3	EFO	organism part	animal developmental tissue
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000795	"Embryonic structure (body structure)" []	2023372	\N	\N	EFO	4	EFO	material entity	animal developmental tissue
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000795	"Embryonic structure (body structure)" []	3177272	\N	\N	EFO	5	EFO	experimental factor	animal developmental tissue
EFO:0000808	\N	\N	"Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum." []	EFO:0000808	"Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum." []	64466	\N	\N	EFO	0	EFO	animal body part	animal body part
EFO:0000787	EFO:0000808	\N	"" []	EFO:0000808	"Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum." []	204967	\N	\N	EFO	1	EFO	animal component	animal body part
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000808	"Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum." []	558060	\N	\N	EFO	2	EFO	anatomy basic component	animal body part
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000808	"Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum." []	1140376	\N	\N	EFO	3	EFO	organism part	animal body part
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000808	"Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum." []	2023373	\N	\N	EFO	4	EFO	material entity	animal body part
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000808	"Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum." []	3177273	\N	\N	EFO	5	EFO	experimental factor	animal body part
EFO:0000811	\N	\N	"An adipose tissue associated with the amphibiian gonad" []	EFO:0000811	"An adipose tissue associated with the amphibiian gonad" []	64467	\N	\N	EFO	0	EFO	fat body sensu amphibia	fat body sensu amphibia
UBERON:0001013	\N	\N	"Connective tissue composed of adipocytes." [Wikipedia:Adipose_tissue]	EFO:0000811	"An adipose tissue associated with the amphibiian gonad" []	194436	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	adipose tissue	fat body sensu amphibia
EFO:0000884	\N	\N	"The walking appendages of each segment of the ventral adult external thorax." []	EFO:0000884	"The walking appendages of each segment of the ventral adult external thorax." []	64468	\N	\N	EFO	0	EFO	invertebrate limb	invertebrate limb
UBERON:0000026	\N	\N	"Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS]	EFO:0000884	"The walking appendages of each segment of the ventral adult external thorax." []	194437	\N	efo_slim,uberon_slim	EFO	0	EFO	appendage	invertebrate limb
EFO:0000889	\N	\N	"Visceral muscle of the adult." []	EFO:0000889	"Visceral muscle of the adult." []	64469	\N	\N	EFO	0	EFO	smooth muscle	smooth muscle
UBERON:0001015	\N	\N	"A body tissue consisting of long cells that contract when stimulated and produce motion." []	EFO:0000889	"Visceral muscle of the adult." []	194438	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	musculature	smooth muscle
EFO:0000890	\N	\N	"Any of a number of aggregations of neurons, glial cells and their processes, surrounded by a glial cell and connective tissue sheath (plural: ganglia)." []	EFO:0000890	"Any of a number of aggregations of neurons, glial cells and their processes, surrounded by a glial cell and connective tissue sheath (plural: ganglia)." []	64470	\N	\N	EFO	0	EFO	invertebrate ganglion	invertebrate ganglion
UBERON:0000045	\N	\N	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	EFO:0000890	"Any of a number of aggregations of neurons, glial cells and their processes, surrounded by a glial cell and connective tissue sheath (plural: ganglia)." []	194439	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	ganglion	invertebrate ganglion
EFO:0000897	\N	\N	"" []	EFO:0000897	"" []	64471	\N	\N	EFO	0	EFO	pharyngeal nervous system	pharyngeal nervous system
UBERON:0001017	\N	\N	"The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord[GO]. The part of the nervous system which in vertebrates consists of the brain and spinal cord, to which sensory impulses are transmitted and from which motor impulses pass out, and which supervises and coordinates the activity of the entire nervous system[XAO]. Neuraxis plus retina[INCF]." [FB:gg, ISBN:3110148986, NLM:central+nervous+system, Wikipedia:Central_nervous_system, ZFIN:curator]	EFO:0000897	"" []	194440	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	central nervous system	pharyngeal nervous system
EFO:0000938	\N	\N	"A sensillum with a long, unicellular, setiform outgrowth that is strongly chitinized." []	EFO:0000938	"A sensillum with a long, unicellular, setiform outgrowth that is strongly chitinized." []	64472	\N	\N	EFO	0	EFO	sensory bristle	sensory bristle
UBERON:0001032	\N	\N	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	EFO:0000938	"A sensillum with a long, unicellular, setiform outgrowth that is strongly chitinized." []	194441	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	sensory system	sensory bristle
EFO:0000949	\N	\N	"Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited." []	EFO:0000949	"Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited." []	64473	\N	\N	EFO	0	EFO	cartilage	cartilage
EFO:0003858	EFO:0000949	\N	"" []	EFO:0000949	"Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited." []	204968	\N	\N	EFO	1	EFO	skeleton structure	cartilage
EFO:0000787	EFO:0003858	\N	"" []	EFO:0000949	"Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited." []	558061	\N	\N	EFO	2	EFO	animal component	cartilage
EFO:0000786	EFO:0000787	\N	"" []	EFO:0000949	"Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited." []	1140377	\N	\N	EFO	3	EFO	anatomy basic component	cartilage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000949	"Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited." []	2023374	\N	\N	EFO	4	EFO	organism part	cartilage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000949	"Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited." []	3177274	\N	\N	EFO	5	EFO	material entity	cartilage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000949	"Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited." []	4387685	\N	\N	EFO	6	EFO	experimental factor	cartilage
EFO:0000988	\N	\N	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	EFO:0000988	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	64474	\N	\N	EFO	0	EFO	gametophyte	gametophyte
EFO:0000789	EFO:0000988	\N	"" []	EFO:0000988	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	204969	\N	\N	EFO	1	EFO	plant component	gametophyte
PO:0025131	EFO:0000988	\N	"An anatomical entity that is or was part of a plant." []	EFO:0000988	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	204970	\N	\N	EFO	1	EFO	plant anatomical entity	gametophyte
EFO:0000786	EFO:0000789	\N	"" []	EFO:0000988	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	558062	\N	\N	EFO	2	EFO	anatomy basic component	gametophyte
EFO:0000786	PO:0025131	\N	"" []	EFO:0000988	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	558063	\N	\N	EFO	2	EFO	anatomy basic component	gametophyte
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000988	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	1140378	\N	\N	EFO	3	EFO	organism part	gametophyte
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000988	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	2023375	\N	\N	EFO	4	EFO	material entity	gametophyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000988	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	3177275	\N	\N	EFO	5	EFO	experimental factor	gametophyte
EFO:0000989	\N	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	EFO:0000989	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	64475	\N	\N	EFO	0	EFO	root structure	root structure
EFO:0000789	EFO:0000989	\N	"" []	EFO:0000989	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	204971	\N	\N	EFO	1	EFO	plant component	root structure
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	EFO:0000989	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	204972	\N	\N	EFO	1	EFO	plant anatomical entity	root structure
EFO:0000786	EFO:0000789	\N	"" []	EFO:0000989	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	558064	\N	\N	EFO	2	EFO	anatomy basic component	root structure
EFO:0000786	PO:0025131	\N	"" []	EFO:0000989	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	558065	\N	\N	EFO	2	EFO	anatomy basic component	root structure
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000989	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	1140379	\N	\N	EFO	3	EFO	organism part	root structure
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000989	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	2023376	\N	\N	EFO	4	EFO	material entity	root structure
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000989	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	3177276	\N	\N	EFO	5	EFO	experimental factor	root structure
EFO:0000991	\N	\N	"A matured ovule containing an embryo and food supply and covered by a seed coat." []	EFO:0000991	"A matured ovule containing an embryo and food supply and covered by a seed coat." []	64476	\N	\N	EFO	0	EFO	seed structure	seed structure
EFO:0000789	EFO:0000991	\N	"" []	EFO:0000991	"A matured ovule containing an embryo and food supply and covered by a seed coat." []	204973	\N	\N	EFO	1	EFO	plant component	seed structure
PO:0025131	EFO:0000991	\N	"An anatomical entity that is or was part of a plant." []	EFO:0000991	"A matured ovule containing an embryo and food supply and covered by a seed coat." []	204974	\N	\N	EFO	1	EFO	plant anatomical entity	seed structure
EFO:0000786	EFO:0000789	\N	"" []	EFO:0000991	"A matured ovule containing an embryo and food supply and covered by a seed coat." []	558066	\N	\N	EFO	2	EFO	anatomy basic component	seed structure
EFO:0000786	PO:0025131	\N	"" []	EFO:0000991	"A matured ovule containing an embryo and food supply and covered by a seed coat." []	558067	\N	\N	EFO	2	EFO	anatomy basic component	seed structure
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000991	"A matured ovule containing an embryo and food supply and covered by a seed coat." []	1140380	\N	\N	EFO	3	EFO	organism part	seed structure
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000991	"A matured ovule containing an embryo and food supply and covered by a seed coat." []	2023377	\N	\N	EFO	4	EFO	material entity	seed structure
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000991	"A matured ovule containing an embryo and food supply and covered by a seed coat." []	3177277	\N	\N	EFO	5	EFO	experimental factor	seed structure
EFO:0000992	\N	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	EFO:0000992	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	64477	\N	\N	EFO	0	EFO	shoot	shoot
EFO:0000789	EFO:0000992	\N	"" []	EFO:0000992	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	204975	\N	\N	EFO	1	EFO	plant component	shoot
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	EFO:0000992	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	204976	\N	\N	EFO	1	EFO	plant anatomical entity	shoot
EFO:0000786	EFO:0000789	\N	"" []	EFO:0000992	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	558068	\N	\N	EFO	2	EFO	anatomy basic component	shoot
EFO:0000786	PO:0025131	\N	"" []	EFO:0000992	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	558069	\N	\N	EFO	2	EFO	anatomy basic component	shoot
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000992	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	1140381	\N	\N	EFO	3	EFO	organism part	shoot
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000992	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	2023378	\N	\N	EFO	4	EFO	material entity	shoot
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000992	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	3177278	\N	\N	EFO	5	EFO	experimental factor	shoot
EFO:0000994	\N	\N	"" []	EFO:0000994	"" []	64478	\N	\N	EFO	0	EFO	plant fluid	plant fluid
EFO:0000789	EFO:0000994	\N	"" []	EFO:0000994	"" []	204977	\N	\N	EFO	1	EFO	plant component	plant fluid
PO:0025131	EFO:0000994	\N	"An anatomical entity that is or was part of a plant." []	EFO:0000994	"" []	204978	\N	\N	EFO	1	EFO	plant anatomical entity	plant fluid
EFO:0000786	EFO:0000789	\N	"" []	EFO:0000994	"" []	558070	\N	\N	EFO	2	EFO	anatomy basic component	plant fluid
EFO:0000786	PO:0025131	\N	"" []	EFO:0000994	"" []	558071	\N	\N	EFO	2	EFO	anatomy basic component	plant fluid
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000994	"" []	1140382	\N	\N	EFO	3	EFO	organism part	plant fluid
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000994	"" []	2023379	\N	\N	EFO	4	EFO	material entity	plant fluid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000994	"" []	3177279	\N	\N	EFO	5	EFO	experimental factor	plant fluid
EFO:0000995	\N	\N	"" []	EFO:0000995	"" []	64479	\N	\N	EFO	0	EFO	gall tissue	gall tissue
EFO:0000789	EFO:0000995	\N	"" []	EFO:0000995	"" []	204979	\N	\N	EFO	1	EFO	plant component	gall tissue
PO:0025131	EFO:0000995	\N	"An anatomical entity that is or was part of a plant." []	EFO:0000995	"" []	204980	\N	\N	EFO	1	EFO	plant anatomical entity	gall tissue
EFO:0000786	EFO:0000789	\N	"" []	EFO:0000995	"" []	558072	\N	\N	EFO	2	EFO	anatomy basic component	gall tissue
EFO:0000786	PO:0025131	\N	"" []	EFO:0000995	"" []	558073	\N	\N	EFO	2	EFO	anatomy basic component	gall tissue
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000995	"" []	1140383	\N	\N	EFO	3	EFO	organism part	gall tissue
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000995	"" []	2023380	\N	\N	EFO	4	EFO	material entity	gall tissue
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000995	"" []	3177280	\N	\N	EFO	5	EFO	experimental factor	gall tissue
EFO:0000997	\N	\N	"" []	EFO:0000997	"" []	64480	\N	\N	EFO	0	EFO	storage organ	storage organ
EFO:0000789	EFO:0000997	\N	"" []	EFO:0000997	"" []	204981	\N	\N	EFO	1	EFO	plant component	storage organ
PO:0025131	EFO:0000997	\N	"An anatomical entity that is or was part of a plant." []	EFO:0000997	"" []	204982	\N	\N	EFO	1	EFO	plant anatomical entity	storage organ
EFO:0000786	EFO:0000789	\N	"" []	EFO:0000997	"" []	558074	\N	\N	EFO	2	EFO	anatomy basic component	storage organ
EFO:0000786	PO:0025131	\N	"" []	EFO:0000997	"" []	558075	\N	\N	EFO	2	EFO	anatomy basic component	storage organ
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000997	"" []	1140384	\N	\N	EFO	3	EFO	organism part	storage organ
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000997	"" []	2023381	\N	\N	EFO	4	EFO	material entity	storage organ
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000997	"" []	3177281	\N	\N	EFO	5	EFO	experimental factor	storage organ
EFO:0000998	\N	\N	"" []	EFO:0000998	"" []	64481	\N	\N	EFO	0	EFO	plant reproductive system structure	plant reproductive system structure
EFO:0000789	EFO:0000998	\N	"" []	EFO:0000998	"" []	204983	\N	\N	EFO	1	EFO	plant component	plant reproductive system structure
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	EFO:0000998	"" []	204984	\N	\N	EFO	1	EFO	plant anatomical entity	plant reproductive system structure
EFO:0000786	EFO:0000789	\N	"" []	EFO:0000998	"" []	558076	\N	\N	EFO	2	EFO	anatomy basic component	plant reproductive system structure
EFO:0000786	PO:0025131	\N	"" []	EFO:0000998	"" []	558077	\N	\N	EFO	2	EFO	anatomy basic component	plant reproductive system structure
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000998	"" []	1140385	\N	\N	EFO	3	EFO	organism part	plant reproductive system structure
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000998	"" []	2023382	\N	\N	EFO	4	EFO	material entity	plant reproductive system structure
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000998	"" []	3177282	\N	\N	EFO	5	EFO	experimental factor	plant reproductive system structure
EFO:0000999	\N	\N	"" []	EFO:0000999	"" []	64482	\N	\N	EFO	0	EFO	plant developmental tissue	plant developmental tissue
EFO:0000789	EFO:0000999	\N	"" []	EFO:0000999	"" []	204985	\N	\N	EFO	1	EFO	plant component	plant developmental tissue
PO:0025131	EFO:0000999	\N	"An anatomical entity that is or was part of a plant." []	EFO:0000999	"" []	204986	\N	\N	EFO	1	EFO	plant anatomical entity	plant developmental tissue
EFO:0000786	EFO:0000789	\N	"" []	EFO:0000999	"" []	558078	\N	\N	EFO	2	EFO	anatomy basic component	plant developmental tissue
EFO:0000786	PO:0025131	\N	"" []	EFO:0000999	"" []	558079	\N	\N	EFO	2	EFO	anatomy basic component	plant developmental tissue
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0000999	"" []	1140386	\N	\N	EFO	3	EFO	organism part	plant developmental tissue
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0000999	"" []	2023383	\N	\N	EFO	4	EFO	material entity	plant developmental tissue
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0000999	"" []	3177283	\N	\N	EFO	5	EFO	experimental factor	plant developmental tissue
EFO:0001004	\N	\N	"The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes." []	EFO:0001004	"The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes." []	64483	\N	\N	EFO	0	EFO	pollen tube	pollen tube
EFO:0000988	EFO:0001004	\N	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	EFO:0001004	"The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes." []	204987	\N	\N	EFO	1	EFO	gametophyte	pollen tube
EFO:0000789	EFO:0000988	\N	"" []	EFO:0001004	"The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes." []	558080	\N	\N	EFO	2	EFO	plant component	pollen tube
PO:0025131	EFO:0000988	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001004	"The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes." []	558081	\N	\N	EFO	2	EFO	plant anatomical entity	pollen tube
EFO:0000786	EFO:0000789	\N	"" []	EFO:0001004	"The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes." []	1140387	\N	\N	EFO	3	EFO	anatomy basic component	pollen tube
EFO:0000786	PO:0025131	\N	"" []	EFO:0001004	"The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes." []	1140388	\N	\N	EFO	3	EFO	anatomy basic component	pollen tube
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001004	"The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes." []	2023384	\N	\N	EFO	4	EFO	organism part	pollen tube
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001004	"The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes." []	3177284	\N	\N	EFO	5	EFO	material entity	pollen tube
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001004	"The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes." []	4387686	\N	\N	EFO	6	EFO	experimental factor	pollen tube
EFO:0001005	\N	\N	"A mature male germ cell that develops from a spermatid." []	EFO:0001005	"A mature male germ cell that develops from a spermatid." []	64484	\N	\N	EFO	0	EFO	plant sperm	plant sperm
EFO:0000988	EFO:0001005	\N	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	EFO:0001005	"A mature male germ cell that develops from a spermatid." []	204988	\N	\N	EFO	1	EFO	gametophyte	plant sperm
EFO:0000789	EFO:0000988	\N	"" []	EFO:0001005	"A mature male germ cell that develops from a spermatid." []	558082	\N	\N	EFO	2	EFO	plant component	plant sperm
PO:0025131	EFO:0000988	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001005	"A mature male germ cell that develops from a spermatid." []	558083	\N	\N	EFO	2	EFO	plant anatomical entity	plant sperm
EFO:0000786	EFO:0000789	\N	"" []	EFO:0001005	"A mature male germ cell that develops from a spermatid." []	1140389	\N	\N	EFO	3	EFO	anatomy basic component	plant sperm
EFO:0000786	PO:0025131	\N	"" []	EFO:0001005	"A mature male germ cell that develops from a spermatid." []	1140390	\N	\N	EFO	3	EFO	anatomy basic component	plant sperm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001005	"A mature male germ cell that develops from a spermatid." []	2023385	\N	\N	EFO	4	EFO	organism part	plant sperm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001005	"A mature male germ cell that develops from a spermatid." []	3177285	\N	\N	EFO	5	EFO	material entity	plant sperm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001005	"A mature male germ cell that develops from a spermatid." []	4387687	\N	\N	EFO	6	EFO	experimental factor	plant sperm
EFO:0001010	\N	\N	"" []	EFO:0001010	"" []	64485	\N	\N	EFO	0	EFO	lateral root meristem	lateral root meristem
EFO:0000989	EFO:0001010	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	EFO:0001010	"" []	204989	\N	\N	EFO	1	EFO	root structure	lateral root meristem
PO:0009013	EFO:0001010	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	EFO:0001010	"" []	204990	\N	\N	EFO	1	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	lateral root meristem
EFO:0000789	EFO:0000989	\N	"" []	EFO:0001010	"" []	558084	\N	\N	EFO	2	EFO	plant component	lateral root meristem
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001010	"" []	558085	\N	\N	EFO	2	EFO	plant anatomical entity	lateral root meristem
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	EFO:0001010	"" []	558086	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	lateral root meristem
EFO:0000786	EFO:0000789	\N	"" []	EFO:0001010	"" []	3177287	\N	\N	EFO	5	EFO	anatomy basic component	lateral root meristem
EFO:0000786	PO:0025131	\N	"" []	EFO:0001010	"" []	3177288	\N	\N	EFO	5	EFO	anatomy basic component	lateral root meristem
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	EFO:0001010	"" []	1140393	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	lateral root meristem
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001010	"" []	4066672	\N	\N	EFO	6	EFO	organism part	lateral root meristem
EFO:0000789	PO:0009011	\N	"" []	EFO:0001010	"" []	2023387	\N	\N	EFO	4	EFO	plant component	lateral root meristem
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001010	"" []	2023388	\N	\N	EFO	4	EFO	plant anatomical entity	lateral root meristem
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001010	"" []	5059310	\N	\N	EFO	7	EFO	material entity	lateral root meristem
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001010	"" []	5876521	\N	\N	EFO	8	EFO	experimental factor	lateral root meristem
EFO:0001018	\N	\N	"" []	EFO:0001018	"" []	64486	\N	\N	EFO	0	EFO	lateral shoot meristem	lateral shoot meristem
EFO:0000992	EFO:0001018	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	EFO:0001018	"" []	204991	\N	\N	EFO	1	EFO	shoot	lateral shoot meristem
PO:0009006	EFO:0001018	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	EFO:0001018	"" []	204992	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	lateral shoot meristem
PO:0009013	EFO:0001018	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	EFO:0001018	"" []	204993	\N	\N	EFO	1	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	lateral shoot meristem
EFO:0000789	EFO:0000992	\N	"" []	EFO:0001018	"" []	558087	\N	\N	EFO	2	EFO	plant component	lateral shoot meristem
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001018	"" []	558088	\N	\N	EFO	2	EFO	plant anatomical entity	lateral shoot meristem
EFO:0000789	PO:0009006	\N	"" []	EFO:0001018	"" []	558089	\N	\N	EFO	2	EFO	plant component	lateral shoot meristem
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001018	"" []	558090	\N	\N	EFO	2	EFO	plant anatomical entity	lateral shoot meristem
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	EFO:0001018	"" []	558091	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	lateral shoot meristem
EFO:0000786	EFO:0000789	\N	"" []	EFO:0001018	"" []	3177290	\N	\N	EFO	5	EFO	anatomy basic component	lateral shoot meristem
EFO:0000786	PO:0025131	\N	"" []	EFO:0001018	"" []	3177291	\N	\N	EFO	5	EFO	anatomy basic component	lateral shoot meristem
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	EFO:0001018	"" []	1140396	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	lateral shoot meristem
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001018	"" []	4066673	\N	\N	EFO	6	EFO	organism part	lateral shoot meristem
EFO:0000789	PO:0009011	\N	"" []	EFO:0001018	"" []	2023390	\N	\N	EFO	4	EFO	plant component	lateral shoot meristem
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001018	"" []	2023391	\N	\N	EFO	4	EFO	plant anatomical entity	lateral shoot meristem
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001018	"" []	5059311	\N	\N	EFO	7	EFO	material entity	lateral shoot meristem
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001018	"" []	5876522	\N	\N	EFO	8	EFO	experimental factor	lateral shoot meristem
EFO:0001030	\N	\N	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	64487	\N	\N	EFO	0	EFO	RNAi profiling by array	RNAi profiling by array
EFO:0001457	EFO:0001030	\N	"An assay with input RNA" []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	204994	\N	\N	EFO	1	EFO	RNA assay	RNAi profiling by array
EFO:0002696	EFO:0001030	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	204995	\N	\N	EFO	1	EFO	assay by array	RNAi profiling by array
EFO:0004108	EFO:0001030	\N	"Experiment type permitted in Atlas" []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	204996	\N	\N	EFO	1	EFO	Atlas experiment type	RNAi profiling by array
EFO:0004120	EFO:0001030	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	204997	\N	\N	EFO	1	EFO	ArrayExpress experiment type	RNAi profiling by array
EFO:0002772	EFO:0001457	\N	"" []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	558092	\N	\N	EFO	2	EFO	assay by molecule	RNAi profiling by array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	558093	\N	\N	EFO	2	EFO	assay by instrument	RNAi profiling by array
EFO:0002694	EFO:0004108	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	558094	\N	\N	EFO	2	EFO	experimental process	RNAi profiling by array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	558095	\N	\N	EFO	2	EFO	experimental process	RNAi profiling by array
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	1140397	\N	\N	EFO	3	EFO	assay	RNAi profiling by array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	1140398	\N	\N	EFO	3	EFO	assay	RNAi profiling by array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	3177292	\N	\N	EFO	5	EFO	planned process	RNAi profiling by array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	2023392	\N	\N	EFO	4	EFO	experimental process	RNAi profiling by array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	4066674	\N	\N	EFO	6	EFO	process	RNAi profiling by array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001030	"RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression." []	5059312	\N	\N	EFO	7	EFO	experimental factor	RNAi profiling by array
EFO:0001031	\N	\N	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	64488	\N	\N	EFO	0	EFO	tiling path by array	tiling path by array
EFO:0001456	EFO:0001031	\N	"An assay with input DNA" []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	204998	\N	\N	EFO	1	EFO	DNA assay	tiling path by array
EFO:0002696	EFO:0001031	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	204999	\N	\N	EFO	1	EFO	assay by array	tiling path by array
EFO:0004108	EFO:0001031	\N	"Experiment type permitted in Atlas" []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	205000	\N	\N	EFO	1	EFO	Atlas experiment type	tiling path by array
EFO:0004120	EFO:0001031	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	205001	\N	\N	EFO	1	EFO	ArrayExpress experiment type	tiling path by array
EFO:0002772	EFO:0001456	\N	"" []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	558096	\N	\N	EFO	2	EFO	assay by molecule	tiling path by array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	558097	\N	\N	EFO	2	EFO	assay by instrument	tiling path by array
EFO:0002694	EFO:0004108	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	558098	\N	\N	EFO	2	EFO	experimental process	tiling path by array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	558099	\N	\N	EFO	2	EFO	experimental process	tiling path by array
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	1140400	\N	\N	EFO	3	EFO	assay	tiling path by array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	1140401	\N	\N	EFO	3	EFO	assay	tiling path by array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	3177294	\N	\N	EFO	5	EFO	planned process	tiling path by array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	2023394	\N	\N	EFO	4	EFO	experimental process	tiling path by array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	4066675	\N	\N	EFO	6	EFO	process	tiling path by array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001031	"An assay  in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions." []	5059313	\N	\N	EFO	7	EFO	experimental factor	tiling path by array
EFO:0001032	\N	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0001032	"An assay in which the transcriptome of a biological sample is analysed." []	64489	\N	\N	EFO	0	EFO	transcription profiling	transcription profiling
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0001032	"An assay in which the transcriptome of a biological sample is analysed." []	205002	\N	\N	EFO	1	EFO	experimental process	transcription profiling
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0001032	"An assay in which the transcriptome of a biological sample is analysed." []	558100	\N	\N	EFO	2	EFO	planned process	transcription profiling
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001032	"An assay in which the transcriptome of a biological sample is analysed." []	1140403	\N	\N	EFO	3	EFO	process	transcription profiling
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001032	"An assay in which the transcriptome of a biological sample is analysed." []	2023396	\N	\N	EFO	4	EFO	experimental factor	transcription profiling
EFO:0001033	\N	\N	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	64490	\N	\N	EFO	0	EFO	translation profiling	translation profiling
EFO:0001457	EFO:0001033	\N	"An assay with input RNA" []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	205003	\N	\N	EFO	1	EFO	RNA assay	translation profiling
EFO:0002696	EFO:0001033	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	205004	\N	\N	EFO	1	EFO	assay by array	translation profiling
EFO:0004120	EFO:0001033	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	205005	\N	\N	EFO	1	EFO	ArrayExpress experiment type	translation profiling
EFO:0002772	EFO:0001457	\N	"" []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	558101	\N	\N	EFO	2	EFO	assay by molecule	translation profiling
EFO:0002773	EFO:0002696	\N	"" []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	558102	\N	\N	EFO	2	EFO	assay by instrument	translation profiling
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	558103	\N	\N	EFO	2	EFO	experimental process	translation profiling
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	1140404	\N	\N	EFO	3	EFO	assay	translation profiling
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	1140405	\N	\N	EFO	3	EFO	assay	translation profiling
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	3177296	\N	\N	EFO	5	EFO	planned process	translation profiling
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	2023397	\N	\N	EFO	4	EFO	experimental process	translation profiling
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	4066676	\N	\N	EFO	6	EFO	process	translation profiling
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001033	"An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation." []	5059314	\N	\N	EFO	7	EFO	experimental factor	translation profiling
EFO:0001037	\N	\N	"" []	EFO:0001037	"" []	64491	\N	\N	EFO	0	EFO	leaf vascular tissue	leaf vascular tissue
EFO:0001983	EFO:0001037	\N	"A leaf component is a plant component which is part of a leaf." []	EFO:0001037	"" []	205006	\N	\N	EFO	1	EFO	leaf component	leaf vascular tissue
PO:0009015	EFO:0001037	\N	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	EFO:0001037	"" []	205007	\N	\N	EFO	1	EFO	vascular tissue	leaf vascular tissue
EFO:0000789	EFO:0001983	\N	"" []	EFO:0001037	"" []	558104	\N	\N	EFO	2	EFO	plant component	leaf vascular tissue
PO:0025131	EFO:0001983	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001037	"" []	558105	\N	\N	EFO	2	EFO	plant anatomical entity	leaf vascular tissue
EFO:0000789	PO:0009015	\N	"" []	EFO:0001037	"" []	558106	\N	\N	EFO	2	EFO	plant component	leaf vascular tissue
PO:0025131	PO:0009015	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001037	"" []	558107	\N	\N	EFO	2	EFO	plant anatomical entity	leaf vascular tissue
EFO:0000786	EFO:0000789	\N	"" []	EFO:0001037	"" []	1140407	\N	\N	EFO	3	EFO	anatomy basic component	leaf vascular tissue
EFO:0000786	PO:0025131	\N	"" []	EFO:0001037	"" []	1140408	\N	\N	EFO	3	EFO	anatomy basic component	leaf vascular tissue
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001037	"" []	2023399	\N	\N	EFO	4	EFO	organism part	leaf vascular tissue
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001037	"" []	3177298	\N	\N	EFO	5	EFO	material entity	leaf vascular tissue
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001037	"" []	4387690	\N	\N	EFO	6	EFO	experimental factor	leaf vascular tissue
EFO:0001039	\N	\N	"" []	EFO:0001039	"" []	64492	\N	\N	EFO	0	EFO	seedhead	seedhead
EFO:0000992	EFO:0001039	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	EFO:0001039	"" []	205008	\N	\N	EFO	1	EFO	shoot	seedhead
PO:0009006	EFO:0001039	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	EFO:0001039	"" []	205009	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seedhead
EFO:0000789	EFO:0000992	\N	"" []	EFO:0001039	"" []	558108	\N	\N	EFO	2	EFO	plant component	seedhead
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001039	"" []	558109	\N	\N	EFO	2	EFO	plant anatomical entity	seedhead
EFO:0000789	PO:0009006	\N	"" []	EFO:0001039	"" []	558110	\N	\N	EFO	2	EFO	plant component	seedhead
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001039	"" []	558111	\N	\N	EFO	2	EFO	plant anatomical entity	seedhead
EFO:0000786	EFO:0000789	\N	"" []	EFO:0001039	"" []	1140409	\N	\N	EFO	3	EFO	anatomy basic component	seedhead
EFO:0000786	PO:0025131	\N	"" []	EFO:0001039	"" []	1140410	\N	\N	EFO	3	EFO	anatomy basic component	seedhead
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001039	"" []	2023400	\N	\N	EFO	4	EFO	organism part	seedhead
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001039	"" []	3177299	\N	\N	EFO	5	EFO	material entity	seedhead
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001039	"" []	4387691	\N	\N	EFO	6	EFO	experimental factor	seedhead
EFO:0001045	\N	\N	"The fluid between the cell wall and the plasma membrane" []	EFO:0001045	"The fluid between the cell wall and the plasma membrane" []	64493	\N	\N	EFO	0	EFO	apoplasm	apoplasm
EFO:0000994	EFO:0001045	\N	"" []	EFO:0001045	"The fluid between the cell wall and the plasma membrane" []	205010	\N	\N	EFO	1	EFO	plant fluid	apoplasm
EFO:0000789	EFO:0000994	\N	"" []	EFO:0001045	"The fluid between the cell wall and the plasma membrane" []	558112	\N	\N	EFO	2	EFO	plant component	apoplasm
PO:0025131	EFO:0000994	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001045	"The fluid between the cell wall and the plasma membrane" []	558113	\N	\N	EFO	2	EFO	plant anatomical entity	apoplasm
EFO:0000786	EFO:0000789	\N	"" []	EFO:0001045	"The fluid between the cell wall and the plasma membrane" []	1140411	\N	\N	EFO	3	EFO	anatomy basic component	apoplasm
EFO:0000786	PO:0025131	\N	"" []	EFO:0001045	"The fluid between the cell wall and the plasma membrane" []	1140412	\N	\N	EFO	3	EFO	anatomy basic component	apoplasm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001045	"The fluid between the cell wall and the plasma membrane" []	2023401	\N	\N	EFO	4	EFO	organism part	apoplasm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001045	"The fluid between the cell wall and the plasma membrane" []	3177300	\N	\N	EFO	5	EFO	material entity	apoplasm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001045	"The fluid between the cell wall and the plasma membrane" []	4387692	\N	\N	EFO	6	EFO	experimental factor	apoplasm
EFO:0001046	\N	\N	"A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey." []	EFO:0001046	"A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey." []	64494	\N	\N	EFO	0	EFO	nectar	nectar
EFO:0000994	EFO:0001046	\N	"" []	EFO:0001046	"A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey." []	205011	\N	\N	EFO	1	EFO	plant fluid	nectar
EFO:0000789	EFO:0000994	\N	"" []	EFO:0001046	"A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey." []	558114	\N	\N	EFO	2	EFO	plant component	nectar
PO:0025131	EFO:0000994	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001046	"A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey." []	558115	\N	\N	EFO	2	EFO	plant anatomical entity	nectar
EFO:0000786	EFO:0000789	\N	"" []	EFO:0001046	"A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey." []	1140413	\N	\N	EFO	3	EFO	anatomy basic component	nectar
EFO:0000786	PO:0025131	\N	"" []	EFO:0001046	"A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey." []	1140414	\N	\N	EFO	3	EFO	anatomy basic component	nectar
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001046	"A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey." []	2023402	\N	\N	EFO	4	EFO	organism part	nectar
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001046	"A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey." []	3177301	\N	\N	EFO	5	EFO	material entity	nectar
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001046	"A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey." []	4387693	\N	\N	EFO	6	EFO	experimental factor	nectar
EFO:0001047	\N	\N	"" []	EFO:0001047	"" []	64495	\N	\N	EFO	0	EFO	sap	sap
EFO:0000994	EFO:0001047	\N	"" []	EFO:0001047	"" []	205012	\N	\N	EFO	1	EFO	plant fluid	sap
EFO:0000789	EFO:0000994	\N	"" []	EFO:0001047	"" []	558116	\N	\N	EFO	2	EFO	plant component	sap
PO:0025131	EFO:0000994	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001047	"" []	558117	\N	\N	EFO	2	EFO	plant anatomical entity	sap
EFO:0000786	EFO:0000789	\N	"" []	EFO:0001047	"" []	1140415	\N	\N	EFO	3	EFO	anatomy basic component	sap
EFO:0000786	PO:0025131	\N	"" []	EFO:0001047	"" []	1140416	\N	\N	EFO	3	EFO	anatomy basic component	sap
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001047	"" []	2023403	\N	\N	EFO	4	EFO	organism part	sap
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001047	"" []	3177302	\N	\N	EFO	5	EFO	material entity	sap
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001047	"" []	4387694	\N	\N	EFO	6	EFO	experimental factor	sap
EFO:0001048	\N	\N	"A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves." []	EFO:0001048	"A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves." []	64496	\N	\N	EFO	0	EFO	bulb	bulb
EFO:0000997	EFO:0001048	\N	"" []	EFO:0001048	"A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves." []	205013	\N	\N	EFO	1	EFO	storage organ	bulb
EFO:0000789	EFO:0000997	\N	"" []	EFO:0001048	"A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves." []	558118	\N	\N	EFO	2	EFO	plant component	bulb
PO:0025131	EFO:0000997	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001048	"A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves." []	558119	\N	\N	EFO	2	EFO	plant anatomical entity	bulb
EFO:0000786	EFO:0000789	\N	"" []	EFO:0001048	"A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves." []	1140417	\N	\N	EFO	3	EFO	anatomy basic component	bulb
EFO:0000786	PO:0025131	\N	"" []	EFO:0001048	"A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves." []	1140418	\N	\N	EFO	3	EFO	anatomy basic component	bulb
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001048	"A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves." []	2023404	\N	\N	EFO	4	EFO	organism part	bulb
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001048	"A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves." []	3177303	\N	\N	EFO	5	EFO	material entity	bulb
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001048	"A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves." []	4387695	\N	\N	EFO	6	EFO	experimental factor	bulb
EFO:0001054	\N	\N	"A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." []	EFO:0001054	"A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." []	64497	\N	\N	EFO	0	EFO	leprosy	leprosy
EFO:0000771	EFO:0001054	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0001054	"A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." []	205014	\N	\N	EFO	1	EFO	bacterial disease	leprosy
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0001054	"A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." []	558120	\N	\N	EFO	2	EFO	infectious disease	leprosy
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001054	"A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." []	1140419	\N	\N	EFO	3	EFO	disease	leprosy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001054	"A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." []	2023405	\N	\N	EFO	4	EFO	disposition	leprosy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001054	"A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." []	3177304	\N	\N	EFO	5	EFO	material property	leprosy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001054	"A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." []	4387696	\N	\N	EFO	6	EFO	experimental factor	leprosy
EFO:0001055	\N	\N	"A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." []	EFO:0001055	"A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." []	64498	\N	\N	EFO	0	EFO	borderline leprosy	borderline leprosy
EFO:0001054	EFO:0001055	\N	"A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." []	EFO:0001055	"A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." []	205015	\N	\N	EFO	1	EFO	leprosy	borderline leprosy
EFO:0000771	EFO:0001054	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0001055	"A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." []	558121	\N	\N	EFO	2	EFO	bacterial disease	borderline leprosy
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0001055	"A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." []	1140420	\N	\N	EFO	3	EFO	infectious disease	borderline leprosy
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001055	"A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." []	2023406	\N	\N	EFO	4	EFO	disease	borderline leprosy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001055	"A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." []	3177305	\N	\N	EFO	5	EFO	disposition	borderline leprosy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001055	"A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." []	4387697	\N	\N	EFO	6	EFO	material property	borderline leprosy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001055	"A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." []	5408582	\N	\N	EFO	7	EFO	experimental factor	borderline leprosy
EFO:0001056	\N	\N	"A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." []	EFO:0001056	"A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." []	64499	\N	\N	EFO	0	EFO	tuberculoid leprosy	tuberculoid leprosy
EFO:0001054	EFO:0001056	\N	"A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." []	EFO:0001056	"A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." []	205016	\N	\N	EFO	1	EFO	leprosy	tuberculoid leprosy
EFO:0000771	EFO:0001054	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0001056	"A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." []	558122	\N	\N	EFO	2	EFO	bacterial disease	tuberculoid leprosy
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0001056	"A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." []	1140421	\N	\N	EFO	3	EFO	infectious disease	tuberculoid leprosy
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001056	"A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." []	2023407	\N	\N	EFO	4	EFO	disease	tuberculoid leprosy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001056	"A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." []	3177306	\N	\N	EFO	5	EFO	disposition	tuberculoid leprosy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001056	"A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." []	4387698	\N	\N	EFO	6	EFO	material property	tuberculoid leprosy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001056	"A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." []	5408583	\N	\N	EFO	7	EFO	experimental factor	tuberculoid leprosy
EFO:0001057	\N	\N	"A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." []	EFO:0001057	"A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." []	64500	\N	\N	EFO	0	EFO	lepromatous leprosy	lepromatous leprosy
EFO:0001054	EFO:0001057	\N	"A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." []	EFO:0001057	"A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." []	205017	\N	\N	EFO	1	EFO	leprosy	lepromatous leprosy
EFO:0000771	EFO:0001054	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0001057	"A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." []	558123	\N	\N	EFO	2	EFO	bacterial disease	lepromatous leprosy
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0001057	"A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." []	1140422	\N	\N	EFO	3	EFO	infectious disease	lepromatous leprosy
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001057	"A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." []	2023408	\N	\N	EFO	4	EFO	disease	lepromatous leprosy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001057	"A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." []	3177307	\N	\N	EFO	5	EFO	disposition	lepromatous leprosy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001057	"A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." []	4387699	\N	\N	EFO	6	EFO	material property	lepromatous leprosy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001057	"A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." []	5408584	\N	\N	EFO	7	EFO	experimental factor	lepromatous leprosy
EFO:0001058	\N	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0001058	"A sensory system disease is a disease which has as location the sensory system." []	64501	\N	\N	EFO	0	EFO	sensory system disease	sensory system disease
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0001058	"A sensory system disease is a disease which has as location the sensory system." []	205018	\N	\N	EFO	1	EFO	nervous system disease	sensory system disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001058	"A sensory system disease is a disease which has as location the sensory system." []	558124	\N	\N	EFO	2	EFO	disease	sensory system disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001058	"A sensory system disease is a disease which has as location the sensory system." []	1140423	\N	\N	EFO	3	EFO	disposition	sensory system disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001058	"A sensory system disease is a disease which has as location the sensory system." []	2023409	\N	\N	EFO	4	EFO	material property	sensory system disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001058	"A sensory system disease is a disease which has as location the sensory system." []	3177308	\N	\N	EFO	5	EFO	experimental factor	sensory system disease
EFO:0001059	\N	\N	"Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)" []	EFO:0001059	"Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)" []	64502	\N	\N	EFO	0	EFO	cataract	cataract
EFO:0001058	EFO:0001059	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0001059	"Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)" []	205019	\N	\N	EFO	1	EFO	sensory system disease	cataract
EFO:0003966	EFO:0001059	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0001059	"Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)" []	205020	\N	\N	EFO	1	EFO	eye disease	cataract
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0001059	"Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)" []	558125	\N	\N	EFO	2	EFO	nervous system disease	cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001059	"Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)" []	558126	\N	\N	EFO	2	EFO	disease	cataract
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001059	"Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)" []	1140424	\N	\N	EFO	3	EFO	disease	cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001059	"Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)" []	2023410	\N	\N	EFO	4	EFO	disposition	cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001059	"Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)" []	2999254	\N	\N	EFO	5	EFO	material property	cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001059	"Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)" []	4132567	\N	\N	EFO	6	EFO	experimental factor	cataract
EFO:0001060	\N	\N	"A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION." []	EFO:0001060	"A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION." []	64503	\N	\N	EFO	0	EFO	celiac disease	celiac disease
EFO:0000405	EFO:0001060	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0001060	"A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION." []	205021	\N	\N	EFO	1	EFO	digestive system disease	celiac disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001060	"A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION." []	558127	\N	\N	EFO	2	EFO	disease	celiac disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001060	"A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION." []	1140426	\N	\N	EFO	3	EFO	disposition	celiac disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001060	"A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION." []	2023412	\N	\N	EFO	4	EFO	material property	celiac disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001060	"A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION." []	3177310	\N	\N	EFO	5	EFO	experimental factor	celiac disease
EFO:0001061	\N	\N	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	64504	\N	\N	EFO	0	EFO	cervical carcinoma	cervical carcinoma
EFO:0000313	EFO:0001061	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	205022	\N	\N	EFO	1	EFO	carcinoma	cervical carcinoma
EFO:0000512	EFO:0001061	\N	"any diease of the reproductive system" []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	205023	\N	\N	EFO	1	EFO	reproductive system disease	cervical carcinoma
EFO:0003863	EFO:0001061	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	205024	\N	\N	EFO	1	EFO	urogenital neoplasm	cervical carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	558128	\N	\N	EFO	2	EFO	cancer	cervical carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	558129	\N	\N	EFO	2	EFO	epithelial neoplasm	cervical carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	558130	\N	\N	EFO	2	EFO	disease	cervical carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	558131	\N	\N	EFO	2	EFO	neoplasm	cervical carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	1140427	\N	\N	EFO	3	EFO	neoplasm	cervical carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	1140428	\N	\N	EFO	3	EFO	neoplasm	cervical carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	2999256	\N	\N	EFO	5	EFO	disposition	cervical carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	2023413	\N	\N	EFO	4	EFO	disease	cervical carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	4066677	\N	\N	EFO	6	EFO	material property	cervical carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001061	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	5059315	\N	\N	EFO	7	EFO	experimental factor	cervical carcinoma
EFO:0001062	\N	\N	"Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults." []	EFO:0001062	"Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults." []	64505	\N	\N	EFO	0	EFO	cytomegalovirus infection	cytomegalovirus infection
EFO:0000763	EFO:0001062	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0001062	"Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults." []	205025	\N	\N	EFO	1	EFO	viral disease	cytomegalovirus infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0001062	"Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults." []	558132	\N	\N	EFO	2	EFO	infectious disease	cytomegalovirus infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001062	"Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults." []	1140431	\N	\N	EFO	3	EFO	disease	cytomegalovirus infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001062	"Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults." []	2023416	\N	\N	EFO	4	EFO	disposition	cytomegalovirus infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001062	"Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults." []	3177312	\N	\N	EFO	5	EFO	material property	cytomegalovirus infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001062	"Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults." []	4387700	\N	\N	EFO	6	EFO	experimental factor	cytomegalovirus infection
EFO:0001063	\N	\N	"An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears." []	EFO:0001063	"An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears." []	64506	\N	\N	EFO	0	EFO	deafness	deafness
EFO:0004238	EFO:0001063	\N	"A general term for the complete or partial loss of the ability to hear from one or both ears." []	EFO:0001063	"An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears." []	205026	\N	\N	EFO	1	EFO	hearing loss	deafness
EFO:1001455	EFO:0004238	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:0001063	"An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears." []	558133	\N	\N	EFO	2	EFO	auditory system disease	deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0001063	"An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears." []	1140432	\N	\N	EFO	3	EFO	sensory system disease	deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0001063	"An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears." []	2023417	\N	\N	EFO	4	EFO	nervous system disease	deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001063	"An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears." []	3177313	\N	\N	EFO	5	EFO	disease	deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001063	"An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears." []	4387701	\N	\N	EFO	6	EFO	disposition	deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001063	"An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears." []	5408585	\N	\N	EFO	7	EFO	material property	deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001063	"An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears." []	6147426	\N	\N	EFO	8	EFO	experimental factor	deafness
EFO:0001064	\N	\N	"A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)" []	EFO:0001064	"A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)" []	64507	\N	\N	EFO	0	EFO	Down syndrome	Down syndrome
EFO:0000508	EFO:0001064	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0001064	"A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)" []	205027	\N	\N	EFO	1	EFO	genetic disorder	Down syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001064	"A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)" []	558134	\N	\N	EFO	2	EFO	disease	Down syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001064	"A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)" []	1140433	\N	\N	EFO	3	EFO	disposition	Down syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001064	"A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)" []	2023418	\N	\N	EFO	4	EFO	material property	Down syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001064	"A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)" []	3177314	\N	\N	EFO	5	EFO	experimental factor	Down syndrome
EFO:0001065	\N	\N	"The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." []	EFO:0001065	"The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." []	64508	\N	\N	EFO	0	EFO	endometriosis	endometriosis
EFO:0000512	EFO:0001065	\N	"any diease of the reproductive system" []	EFO:0001065	"The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." []	205028	\N	\N	EFO	1	EFO	reproductive system disease	endometriosis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001065	"The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." []	558135	\N	\N	EFO	2	EFO	disease	endometriosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001065	"The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." []	1140434	\N	\N	EFO	3	EFO	disposition	endometriosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001065	"The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." []	2023419	\N	\N	EFO	4	EFO	material property	endometriosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001065	"The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." []	3177315	\N	\N	EFO	5	EFO	experimental factor	endometriosis
EFO:0001066	\N	\N	"An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)" []	EFO:0001066	"An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)" []	64509	\N	\N	EFO	0	EFO	experimental autoimmune encephalomyelitis	experimental autoimmune encephalomyelitis
EFO:0001423	EFO:0001066	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:0001066	"An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)" []	205029	\N	\N	EFO	1	EFO	encephalomyelitis	experimental autoimmune encephalomyelitis
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:0001066	"An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)" []	558136	\N	\N	EFO	2	EFO	central nervous system infection	experimental autoimmune encephalomyelitis
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0001066	"An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)" []	1140435	\N	\N	EFO	3	EFO	nervous system disease	experimental autoimmune encephalomyelitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001066	"An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)" []	2023420	\N	\N	EFO	4	EFO	disease	experimental autoimmune encephalomyelitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001066	"An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)" []	3177316	\N	\N	EFO	5	EFO	disposition	experimental autoimmune encephalomyelitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001066	"An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)" []	4387702	\N	\N	EFO	6	EFO	material property	experimental autoimmune encephalomyelitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001066	"An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)" []	5408586	\N	\N	EFO	7	EFO	experimental factor	experimental autoimmune encephalomyelitis
EFO:0001067	\N	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0001067	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	64510	\N	\N	EFO	0	EFO	parasitic infection	parasitic infection
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0001067	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	205030	\N	\N	EFO	1	EFO	infectious disease	parasitic infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001067	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	558137	\N	\N	EFO	2	EFO	disease	parasitic infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001067	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	1140436	\N	\N	EFO	3	EFO	disposition	parasitic infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001067	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	2023421	\N	\N	EFO	4	EFO	material property	parasitic infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001067	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	3177317	\N	\N	EFO	5	EFO	experimental factor	parasitic infection
EFO:0001068	\N	\N	"Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." []	EFO:0001068	"Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." []	64511	\N	\N	EFO	0	EFO	malaria	malaria
EFO:0001067	EFO:0001068	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0001068	"Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." []	205031	\N	\N	EFO	1	EFO	parasitic infection	malaria
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0001068	"Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." []	558138	\N	\N	EFO	2	EFO	infectious disease	malaria
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001068	"Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." []	1140437	\N	\N	EFO	3	EFO	disease	malaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001068	"Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." []	2023422	\N	\N	EFO	4	EFO	disposition	malaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001068	"Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." []	3177318	\N	\N	EFO	5	EFO	material property	malaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001068	"Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." []	4387703	\N	\N	EFO	6	EFO	experimental factor	malaria
EFO:0001069	\N	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:0001069	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	64512	\N	\N	EFO	0	EFO	nutritional disorder	nutritional disorder
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0001069	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	205032	\N	\N	EFO	1	EFO	metabolic disease	nutritional disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001069	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	558139	\N	\N	EFO	2	EFO	disease	nutritional disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001069	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	1140438	\N	\N	EFO	3	EFO	disposition	nutritional disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001069	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	2023423	\N	\N	EFO	4	EFO	material property	nutritional disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001069	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	3177319	\N	\N	EFO	5	EFO	experimental factor	nutritional disorder
EFO:0001070	\N	\N	"A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)" []	EFO:0001070	"A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)" []	64513	\N	\N	EFO	0	EFO	folate deficiency	folate deficiency
EFO:0005878	EFO:0001070	\N	"A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." []	EFO:0001070	"A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)" []	205033	\N	\N	EFO	1	EFO	vitamin deficiency	folate deficiency
EFO:0001071	\N	\N	"Tumors or cancer of the LUNG." []	EFO:0001071	"Tumors or cancer of the LUNG." []	64514	\N	\N	EFO	0	EFO	lung carcinoma	lung carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0001071	"Tumors or cancer of the LUNG." []	205034	\N	\N	EFO	1	EFO	carcinoma	lung carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:0001071	"Tumors or cancer of the LUNG." []	205035	\N	\N	EFO	1	EFO	lung disease	lung carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0001071	"Tumors or cancer of the LUNG." []	205036	\N	\N	EFO	1	EFO	respiratory system neoplasm	lung carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0001071	"Tumors or cancer of the LUNG." []	558140	\N	\N	EFO	2	EFO	cancer	lung carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0001071	"Tumors or cancer of the LUNG." []	558141	\N	\N	EFO	2	EFO	epithelial neoplasm	lung carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0001071	"Tumors or cancer of the LUNG." []	558142	\N	\N	EFO	2	EFO	respiratory system disease	lung carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001071	"Tumors or cancer of the LUNG." []	558143	\N	\N	EFO	2	EFO	neoplasm	lung carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0001071	"Tumors or cancer of the LUNG." []	558144	\N	\N	EFO	2	EFO	respiratory system disease	lung carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001071	"Tumors or cancer of the LUNG." []	1140439	\N	\N	EFO	3	EFO	neoplasm	lung carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001071	"Tumors or cancer of the LUNG." []	1140440	\N	\N	EFO	3	EFO	neoplasm	lung carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001071	"Tumors or cancer of the LUNG." []	1140441	\N	\N	EFO	3	EFO	disease	lung carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001071	"Tumors or cancer of the LUNG." []	2023424	\N	\N	EFO	4	EFO	disease	lung carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001071	"Tumors or cancer of the LUNG." []	2999257	\N	\N	EFO	5	EFO	disposition	lung carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001071	"Tumors or cancer of the LUNG." []	4132569	\N	\N	EFO	6	EFO	material property	lung carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001071	"Tumors or cancer of the LUNG." []	5180916	\N	\N	EFO	7	EFO	experimental factor	lung carcinoma
EFO:0001072	\N	\N	"" []	EFO:0001072	"" []	64515	\N	\N	EFO	0	EFO	memory impairment	memory impairment
HP:0000707	\N	\N	"An abnormality of the nervous system." [HPO:probinson]	EFO:0001072	"" []	194442	\N	\N	EFO	0	EFO	Abnormality of the nervous system	memory impairment
EFO:0001073	\N	\N	"An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher." []	EFO:0001073	"An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher." []	64516	\N	\N	EFO	0	EFO	obesity	obesity
EFO:0000589	EFO:0001073	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0001073	"An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher." []	205037	\N	\N	EFO	1	EFO	metabolic disease	obesity
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001073	"An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher." []	558145	\N	\N	EFO	2	EFO	disease	obesity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001073	"An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher." []	1140443	\N	\N	EFO	3	EFO	disposition	obesity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001073	"An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher." []	2023426	\N	\N	EFO	4	EFO	material property	obesity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001073	"An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher." []	3177321	\N	\N	EFO	5	EFO	experimental factor	obesity
EFO:0001074	\N	\N	"The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." []	EFO:0001074	"The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." []	64517	\N	\N	EFO	0	EFO	morbid obesity	morbid obesity
EFO:0001073	EFO:0001074	\N	"An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher." []	EFO:0001074	"The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." []	205038	\N	\N	EFO	1	EFO	obesity	morbid obesity
EFO:0000589	EFO:0001073	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0001074	"The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." []	558146	\N	\N	EFO	2	EFO	metabolic disease	morbid obesity
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001074	"The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." []	1140444	\N	\N	EFO	3	EFO	disease	morbid obesity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001074	"The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." []	2023427	\N	\N	EFO	4	EFO	disposition	morbid obesity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001074	"The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." []	3177322	\N	\N	EFO	5	EFO	material property	morbid obesity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001074	"The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." []	4387705	\N	\N	EFO	6	EFO	experimental factor	morbid obesity
EFO:0001075	\N	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	64518	\N	\N	EFO	0	EFO	ovarian carcinoma	ovarian carcinoma
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	205039	\N	\N	EFO	1	EFO	carcinoma	ovarian carcinoma
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	205040	\N	\N	EFO	1	EFO	ovarian neoplasm	ovarian carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	558147	\N	\N	EFO	2	EFO	cancer	ovarian carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	558148	\N	\N	EFO	2	EFO	epithelial neoplasm	ovarian carcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	558149	\N	\N	EFO	2	EFO	urogenital neoplasm	ovarian carcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	558150	\N	\N	EFO	2	EFO	ovarian disease	ovarian carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	1140445	\N	\N	EFO	3	EFO	neoplasm	ovarian carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	1140446	\N	\N	EFO	3	EFO	neoplasm	ovarian carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	1140447	\N	\N	EFO	3	EFO	neoplasm	ovarian carcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	1140448	\N	\N	EFO	3	EFO	reproductive system disease	ovarian carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	2023428	\N	\N	EFO	4	EFO	disease	ovarian carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	2023429	\N	\N	EFO	4	EFO	disease	ovarian carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	3177323	\N	\N	EFO	5	EFO	disposition	ovarian carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	4387706	\N	\N	EFO	6	EFO	material property	ovarian carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001075	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	5408587	\N	\N	EFO	7	EFO	experimental factor	ovarian carcinoma
EFO:0001076	\N	\N	"Infections with bacteria of the genus PSEUDOMONAS." []	EFO:0001076	"Infections with bacteria of the genus PSEUDOMONAS." []	64519	\N	\N	EFO	0	EFO	Pseudomonas infection	Pseudomonas infection
EFO:0000771	EFO:0001076	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0001076	"Infections with bacteria of the genus PSEUDOMONAS." []	205041	\N	\N	EFO	1	EFO	bacterial disease	Pseudomonas infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0001076	"Infections with bacteria of the genus PSEUDOMONAS." []	558151	\N	\N	EFO	2	EFO	infectious disease	Pseudomonas infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001076	"Infections with bacteria of the genus PSEUDOMONAS." []	1140449	\N	\N	EFO	3	EFO	disease	Pseudomonas infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001076	"Infections with bacteria of the genus PSEUDOMONAS." []	2023430	\N	\N	EFO	4	EFO	disposition	Pseudomonas infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001076	"Infections with bacteria of the genus PSEUDOMONAS." []	3177324	\N	\N	EFO	5	EFO	material property	Pseudomonas infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001076	"Infections with bacteria of the genus PSEUDOMONAS." []	4387707	\N	\N	EFO	6	EFO	experimental factor	Pseudomonas infection
EFO:0001077	\N	\N	"A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." []	EFO:0001077	"A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." []	64520	\N	\N	EFO	0	EFO	Pseudomonas aeruginosa CF5 infection	Pseudomonas aeruginosa CF5 infection
EFO:0001076	EFO:0001077	\N	"Infections with bacteria of the genus PSEUDOMONAS." []	EFO:0001077	"A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." []	205042	\N	\N	EFO	1	EFO	Pseudomonas infection	Pseudomonas aeruginosa CF5 infection
EFO:0000771	EFO:0001076	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0001077	"A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." []	558152	\N	\N	EFO	2	EFO	bacterial disease	Pseudomonas aeruginosa CF5 infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0001077	"A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." []	1140450	\N	\N	EFO	3	EFO	infectious disease	Pseudomonas aeruginosa CF5 infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001077	"A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." []	2023431	\N	\N	EFO	4	EFO	disease	Pseudomonas aeruginosa CF5 infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001077	"A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." []	3177325	\N	\N	EFO	5	EFO	disposition	Pseudomonas aeruginosa CF5 infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001077	"A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." []	4387708	\N	\N	EFO	6	EFO	material property	Pseudomonas aeruginosa CF5 infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001077	"A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." []	5408588	\N	\N	EFO	7	EFO	experimental factor	Pseudomonas aeruginosa CF5 infection
EFO:0001078	\N	\N	"A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." []	EFO:0001078	"A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." []	64521	\N	\N	EFO	0	EFO	Pseudomonas aeruginosa PA14 infection	Pseudomonas aeruginosa PA14 infection
EFO:0001076	EFO:0001078	\N	"Infections with bacteria of the genus PSEUDOMONAS." []	EFO:0001078	"A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." []	205043	\N	\N	EFO	1	EFO	Pseudomonas infection	Pseudomonas aeruginosa PA14 infection
EFO:0000771	EFO:0001076	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0001078	"A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." []	558153	\N	\N	EFO	2	EFO	bacterial disease	Pseudomonas aeruginosa PA14 infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0001078	"A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." []	1140451	\N	\N	EFO	3	EFO	infectious disease	Pseudomonas aeruginosa PA14 infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001078	"A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." []	2023432	\N	\N	EFO	4	EFO	disease	Pseudomonas aeruginosa PA14 infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001078	"A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." []	3177326	\N	\N	EFO	5	EFO	disposition	Pseudomonas aeruginosa PA14 infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001078	"A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." []	4387709	\N	\N	EFO	6	EFO	material property	Pseudomonas aeruginosa PA14 infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001078	"A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." []	5408589	\N	\N	EFO	7	EFO	experimental factor	Pseudomonas aeruginosa PA14 infection
EFO:0001080	\N	\N	"A 267b1 ki ras is a cell line.\\nA 267b1 ki ras derives from a prostate." []	EFO:0001080	"A 267b1 ki ras is a cell line.\\nA 267b1 ki ras derives from a prostate." []	64522	\N	\N	EFO	0	EFO	267B1	267B1
EFO:0002891	EFO:0001080	\N	"Any cell line that is derived from the prostate." []	EFO:0001080	"A 267b1 ki ras is a cell line.\\nA 267b1 ki ras derives from a prostate." []	205044	\N	\N	EFO	1	EFO	prostate derived cell line	267B1
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001080	"A 267b1 ki ras is a cell line.\\nA 267b1 ki ras derives from a prostate." []	558154	\N	\N	EFO	2	EFO	cell line	267B1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001080	"A 267b1 ki ras is a cell line.\\nA 267b1 ki ras derives from a prostate." []	1140452	\N	\N	EFO	3	EFO	material entity	267B1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001080	"A 267b1 ki ras is a cell line.\\nA 267b1 ki ras derives from a prostate." []	2023433	\N	\N	EFO	4	EFO	experimental factor	267B1
EFO:0001081	\N	\N	"" []	EFO:0001081	"" []	64523	\N	\N	EFO	0	EFO	267B1 Ki-ras	267B1 Ki-ras
EFO:0002891	EFO:0001081	\N	"Any cell line that is derived from the prostate." []	EFO:0001081	"" []	205045	\N	\N	EFO	1	EFO	prostate derived cell line	267B1 Ki-ras
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001081	"" []	558155	\N	\N	EFO	2	EFO	cell line	267B1 Ki-ras
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001081	"" []	1140453	\N	\N	EFO	3	EFO	material entity	267B1 Ki-ras
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001081	"" []	2023434	\N	\N	EFO	4	EFO	experimental factor	267B1 Ki-ras
EFO:0001082	\N	\N	"" []	EFO:0001082	"" []	64524	\N	\N	EFO	0	EFO	293T	293T
EFO:0001643	EFO:0001082	\N	"" []	EFO:0001082	"" []	205046	\N	\N	EFO	1	EFO	kidney derived cell line	293T
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001082	"" []	558156	\N	\N	EFO	2	EFO	cell line	293T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001082	"" []	1140454	\N	\N	EFO	3	EFO	material entity	293T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001082	"" []	2023435	\N	\N	EFO	4	EFO	experimental factor	293T
EFO:0001083	\N	\N	"" []	EFO:0001083	"" []	64525	\N	\N	EFO	0	EFO	293TsiLL	293TsiLL
EFO:0001643	EFO:0001083	\N	"" []	EFO:0001083	"" []	205047	\N	\N	EFO	1	EFO	kidney derived cell line	293TsiLL
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001083	"" []	558157	\N	\N	EFO	2	EFO	cell line	293TsiLL
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001083	"" []	1140455	\N	\N	EFO	3	EFO	material entity	293TsiLL
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001083	"" []	2023436	\N	\N	EFO	4	EFO	experimental factor	293TsiLL
EFO:0001084	\N	\N	"" []	EFO:0001084	"" []	64526	\N	\N	EFO	0	EFO	3T3-L1	3T3-L1
EFO:0002887	EFO:0001084	\N	"Cell lines derived from mice." []	EFO:0001084	"" []	205048	\N	\N	EFO	1	EFO	mouse cell line	3T3-L1
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001084	"" []	558158	\N	\N	EFO	2	EFO	cell line	3T3-L1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001084	"" []	1140456	\N	\N	EFO	3	EFO	material entity	3T3-L1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001084	"" []	2023437	\N	\N	EFO	4	EFO	experimental factor	3T3-L1
EFO:0001085	\N	\N	"" []	EFO:0001085	"" []	64527	\N	\N	EFO	0	EFO	600MPE	600MPE
EFO:0002884	EFO:0001085	\N	"" []	EFO:0001085	"" []	205049	\N	\N	EFO	1	EFO	mammary gland cell line	600MPE
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001085	"" []	558159	\N	\N	EFO	2	EFO	cell line	600MPE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001085	"" []	1140457	\N	\N	EFO	3	EFO	material entity	600MPE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001085	"" []	2023438	\N	\N	EFO	4	EFO	experimental factor	600MPE
EFO:0001086	\N	\N	"" []	EFO:0001086	"" []	64528	\N	\N	EFO	0	EFO	A549	A549
EFO:0002888	EFO:0001086	\N	"" []	EFO:0001086	"" []	205050	\N	\N	EFO	1	EFO	Homo sapiens cell line	A549
EFO:0002934	EFO:0001086	\N	"" []	EFO:0001086	"" []	205051	\N	\N	EFO	1	EFO	lung cancer cell line	A549
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001086	"" []	558160	\N	\N	EFO	2	EFO	cell line	A549
EFO:0001639	EFO:0002934	\N	"" []	EFO:0001086	"" []	558161	\N	\N	EFO	2	EFO	cancer cell line	A549
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001086	"" []	2023440	\N	\N	EFO	4	EFO	material entity	A549
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001086	"" []	1140459	\N	\N	EFO	3	EFO	cell line	A549
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001086	"" []	2999258	\N	\N	EFO	5	EFO	experimental factor	A549
EFO:0001087	\N	\N	"" []	EFO:0001087	"" []	64529	\N	\N	EFO	0	EFO	AU565	AU565
EFO:0001641	EFO:0001087	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001087	"" []	205052	\N	\N	EFO	1	EFO	epithelial cell derived cell line	AU565
EFO:0002884	EFO:0001087	\N	"" []	EFO:0001087	"" []	205053	\N	\N	EFO	1	EFO	mammary gland cell line	AU565
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001087	"" []	558162	\N	\N	EFO	2	EFO	cell line	AU565
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001087	"" []	558163	\N	\N	EFO	2	EFO	cell line	AU565
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001087	"" []	1140460	\N	\N	EFO	3	EFO	material entity	AU565
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001087	"" []	2023441	\N	\N	EFO	4	EFO	experimental factor	AU565
EFO:0001089	\N	\N	"" []	EFO:0001089	"" []	64530	\N	\N	EFO	0	EFO	BEAS-2B	BEAS-2B
EFO:0001641	EFO:0001089	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001089	"" []	205054	\N	\N	EFO	1	EFO	epithelial cell derived cell line	BEAS-2B
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001089	"" []	558164	\N	\N	EFO	2	EFO	cell line	BEAS-2B
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001089	"" []	1140461	\N	\N	EFO	3	EFO	material entity	BEAS-2B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001089	"" []	2023442	\N	\N	EFO	4	EFO	experimental factor	BEAS-2B
EFO:0001090	\N	\N	"" []	EFO:0001090	"" []	64531	\N	\N	EFO	0	EFO	BJABK3	BJABK3
EFO:0001640	EFO:0001090	\N	"" []	EFO:0001090	"" []	205055	\N	\N	EFO	1	EFO	B cell derived cell line	BJABK3
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001090	"" []	558165	\N	\N	EFO	2	EFO	cell line	BJABK3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001090	"" []	1140462	\N	\N	EFO	3	EFO	material entity	BJABK3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001090	"" []	2023443	\N	\N	EFO	4	EFO	experimental factor	BJABK3
EFO:0001091	\N	\N	"" []	EFO:0001091	"" []	64532	\N	\N	EFO	0	EFO	BL41K3	BL41K3
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0001091	"" []	194443	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	BL41K3
EFO:0001092	\N	\N	"A BT20 is a cell line.\\nA BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell." []	EFO:0001092	"A BT20 is a cell line.\\nA BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell." []	64533	\N	\N	EFO	0	EFO	BT20	BT20
EFO:0001641	EFO:0001092	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001092	"A BT20 is a cell line.\\nA BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell." []	205056	\N	\N	EFO	1	EFO	epithelial cell derived cell line	BT20
EFO:0002885	EFO:0001092	\N	"" []	EFO:0001092	"A BT20 is a cell line.\\nA BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell." []	205057	\N	\N	EFO	1	EFO	breast cancer cell line	BT20
EFO:0002888	EFO:0001092	\N	"" []	EFO:0001092	"A BT20 is a cell line.\\nA BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell." []	205058	\N	\N	EFO	1	EFO	Homo sapiens cell line	BT20
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001092	"A BT20 is a cell line.\\nA BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell." []	558166	\N	\N	EFO	2	EFO	cell line	BT20
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001092	"A BT20 is a cell line.\\nA BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell." []	558167	\N	\N	EFO	2	EFO	cancer cell line	BT20
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001092	"A BT20 is a cell line.\\nA BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell." []	558168	\N	\N	EFO	2	EFO	cell line	BT20
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001092	"A BT20 is a cell line.\\nA BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell." []	2023445	\N	\N	EFO	4	EFO	material entity	BT20
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001092	"A BT20 is a cell line.\\nA BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell." []	1140464	\N	\N	EFO	3	EFO	cell line	BT20
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001092	"A BT20 is a cell line.\\nA BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell." []	2999259	\N	\N	EFO	5	EFO	experimental factor	BT20
EFO:0001093	\N	\N	"" []	EFO:0001093	"" []	64534	\N	\N	EFO	0	EFO	BT474	BT474
EFO:0001641	EFO:0001093	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001093	"" []	205059	\N	\N	EFO	1	EFO	epithelial cell derived cell line	BT474
EFO:0002885	EFO:0001093	\N	"" []	EFO:0001093	"" []	205060	\N	\N	EFO	1	EFO	breast cancer cell line	BT474
EFO:0002888	EFO:0001093	\N	"" []	EFO:0001093	"" []	205061	\N	\N	EFO	1	EFO	Homo sapiens cell line	BT474
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001093	"" []	558169	\N	\N	EFO	2	EFO	cell line	BT474
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001093	"" []	558170	\N	\N	EFO	2	EFO	cancer cell line	BT474
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001093	"" []	558171	\N	\N	EFO	2	EFO	cell line	BT474
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001093	"" []	2023447	\N	\N	EFO	4	EFO	material entity	BT474
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001093	"" []	1140466	\N	\N	EFO	3	EFO	cell line	BT474
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001093	"" []	2999260	\N	\N	EFO	5	EFO	experimental factor	BT474
EFO:0001095	\N	\N	"" []	EFO:0001095	"" []	64535	\N	\N	EFO	0	EFO	BT483	BT483
EFO:0001641	EFO:0001095	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001095	"" []	205062	\N	\N	EFO	1	EFO	epithelial cell derived cell line	BT483
EFO:0002885	EFO:0001095	\N	"" []	EFO:0001095	"" []	205063	\N	\N	EFO	1	EFO	breast cancer cell line	BT483
EFO:0002888	EFO:0001095	\N	"" []	EFO:0001095	"" []	205064	\N	\N	EFO	1	EFO	Homo sapiens cell line	BT483
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001095	"" []	558172	\N	\N	EFO	2	EFO	cell line	BT483
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001095	"" []	558173	\N	\N	EFO	2	EFO	cancer cell line	BT483
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001095	"" []	558174	\N	\N	EFO	2	EFO	cell line	BT483
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001095	"" []	2023449	\N	\N	EFO	4	EFO	material entity	BT483
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001095	"" []	1140468	\N	\N	EFO	3	EFO	cell line	BT483
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001095	"" []	2999261	\N	\N	EFO	5	EFO	experimental factor	BT483
EFO:0001096	\N	\N	"" []	EFO:0001096	"" []	64536	\N	\N	EFO	0	EFO	BT549	BT549
EFO:0001641	EFO:0001096	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001096	"" []	205065	\N	\N	EFO	1	EFO	epithelial cell derived cell line	BT549
EFO:0002885	EFO:0001096	\N	"" []	EFO:0001096	"" []	205066	\N	\N	EFO	1	EFO	breast cancer cell line	BT549
EFO:0002888	EFO:0001096	\N	"" []	EFO:0001096	"" []	205067	\N	\N	EFO	1	EFO	Homo sapiens cell line	BT549
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001096	"" []	558175	\N	\N	EFO	2	EFO	cell line	BT549
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001096	"" []	558176	\N	\N	EFO	2	EFO	cancer cell line	BT549
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001096	"" []	558177	\N	\N	EFO	2	EFO	cell line	BT549
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001096	"" []	2023451	\N	\N	EFO	4	EFO	material entity	BT549
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001096	"" []	1140470	\N	\N	EFO	3	EFO	cell line	BT549
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001096	"" []	2999262	\N	\N	EFO	5	EFO	experimental factor	BT549
EFO:0001098	\N	\N	"" []	EFO:0001098	"" []	64537	\N	\N	EFO	0	EFO	C2C12	C2C12
BTO:0000256	\N	\N	"Cell lines derived from myoblast cells" []	EFO:0001098	"" []	194444	\N	\N	EFO	0	EFO	myoblast cell line	C2C12
EFO:0002887	EFO:0001098	\N	"Cell lines derived from mice." []	EFO:0001098	"" []	205068	\N	\N	EFO	1	EFO	mouse cell line	C2C12
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001098	"" []	558178	\N	\N	EFO	2	EFO	cell line	C2C12
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001098	"" []	1140471	\N	\N	EFO	3	EFO	material entity	C2C12
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001098	"" []	2023452	\N	\N	EFO	4	EFO	experimental factor	C2C12
EFO:0001099	\N	\N	"" []	EFO:0001099	"" []	64538	\N	\N	EFO	0	EFO	Caco-2	Caco-2
BTO:0000797	\N	\N	"" []	EFO:0001099	"" []	194445	\N	\N	EFO	0	EFO	colonic cancer cell line	Caco-2
EFO:0001639	EFO:0001099	\N	"" []	EFO:0001099	"" []	205069	\N	\N	EFO	1	EFO	cancer cell line	Caco-2
EFO:0002926	EFO:0001099	\N	"" []	EFO:0001099	"" []	205070	\N	\N	EFO	1	EFO	ENCODE cell line	Caco-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001099	"" []	558179	\N	\N	EFO	2	EFO	cell line	Caco-2
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001099	"" []	558180	\N	\N	EFO	2	EFO	cell line	Caco-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001099	"" []	1140472	\N	\N	EFO	3	EFO	material entity	Caco-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001099	"" []	2023453	\N	\N	EFO	4	EFO	experimental factor	Caco-2
EFO:0001100	\N	\N	"" []	EFO:0001100	"" []	64539	\N	\N	EFO	0	EFO	CAMA1	CAMA1
EFO:0001641	EFO:0001100	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001100	"" []	205071	\N	\N	EFO	1	EFO	epithelial cell derived cell line	CAMA1
EFO:0002884	EFO:0001100	\N	"" []	EFO:0001100	"" []	205072	\N	\N	EFO	1	EFO	mammary gland cell line	CAMA1
EFO:0002885	EFO:0001100	\N	"" []	EFO:0001100	"" []	205073	\N	\N	EFO	1	EFO	breast cancer cell line	CAMA1
EFO:0002888	EFO:0001100	\N	"" []	EFO:0001100	"" []	205074	\N	\N	EFO	1	EFO	Homo sapiens cell line	CAMA1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001100	"" []	558181	\N	\N	EFO	2	EFO	cell line	CAMA1
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001100	"" []	558182	\N	\N	EFO	2	EFO	cell line	CAMA1
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001100	"" []	558183	\N	\N	EFO	2	EFO	cancer cell line	CAMA1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001100	"" []	558184	\N	\N	EFO	2	EFO	cell line	CAMA1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001100	"" []	2023455	\N	\N	EFO	4	EFO	material entity	CAMA1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001100	"" []	1140474	\N	\N	EFO	3	EFO	cell line	CAMA1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001100	"" []	2999263	\N	\N	EFO	5	EFO	experimental factor	CAMA1
EFO:0001101	\N	\N	"" []	EFO:0001101	"" []	64540	\N	\N	EFO	0	EFO	CC531	CC531
BTO:0000797	\N	\N	"" []	EFO:0001101	"" []	194446	\N	\N	EFO	0	EFO	colonic cancer cell line	CC531
EFO:0001639	EFO:0001101	\N	"" []	EFO:0001101	"" []	205075	\N	\N	EFO	1	EFO	cancer cell line	CC531
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001101	"" []	558185	\N	\N	EFO	2	EFO	cell line	CC531
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001101	"" []	1140475	\N	\N	EFO	3	EFO	material entity	CC531
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001101	"" []	2023456	\N	\N	EFO	4	EFO	experimental factor	CC531
EFO:0001102	\N	\N	"" []	EFO:0001102	"" []	64541	\N	\N	EFO	0	EFO	CFT-2	CFT-2
EFO:0001641	EFO:0001102	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001102	"" []	205076	\N	\N	EFO	1	EFO	epithelial cell derived cell line	CFT-2
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001102	"" []	558186	\N	\N	EFO	2	EFO	cell line	CFT-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001102	"" []	1140476	\N	\N	EFO	3	EFO	material entity	CFT-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001102	"" []	2023457	\N	\N	EFO	4	EFO	experimental factor	CFT-2
EFO:0001103	\N	\N	"" []	EFO:0001103	"" []	64542	\N	\N	EFO	0	EFO	CSBwt-rescued fibroblasts	CSBwt-rescued fibroblasts
EFO:0002009	EFO:0001103	\N	"" []	EFO:0001103	"" []	205077	\N	\N	EFO	1	EFO	fibroblast derived cell line	CSBwt-rescued fibroblasts
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001103	"" []	558187	\N	\N	EFO	2	EFO	cell line	CSBwt-rescued fibroblasts
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001103	"" []	1140477	\N	\N	EFO	3	EFO	material entity	CSBwt-rescued fibroblasts
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001103	"" []	2023458	\N	\N	EFO	4	EFO	experimental factor	CSBwt-rescued fibroblasts
EFO:0001107	\N	\N	"" []	EFO:0001107	"" []	64543	\N	\N	EFO	0	EFO	GM06985	GM06985
EFO:0001640	EFO:0001107	\N	"" []	EFO:0001107	"" []	205078	\N	\N	EFO	1	EFO	B cell derived cell line	GM06985
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001107	"" []	558188	\N	\N	EFO	2	EFO	cell line	GM06985
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001107	"" []	1140478	\N	\N	EFO	3	EFO	material entity	GM06985
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001107	"" []	2023459	\N	\N	EFO	4	EFO	experimental factor	GM06985
EFO:0001108	\N	\N	"" []	EFO:0001108	"" []	64544	\N	\N	EFO	0	EFO	GM06993	GM06993
EFO:0001640	EFO:0001108	\N	"" []	EFO:0001108	"" []	205079	\N	\N	EFO	1	EFO	B cell derived cell line	GM06993
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001108	"" []	558189	\N	\N	EFO	2	EFO	cell line	GM06993
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001108	"" []	1140479	\N	\N	EFO	3	EFO	material entity	GM06993
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001108	"" []	2023460	\N	\N	EFO	4	EFO	experimental factor	GM06993
EFO:0001109	\N	\N	"" []	EFO:0001109	"" []	64545	\N	\N	EFO	0	EFO	GM06994	GM06994
EFO:0001640	EFO:0001109	\N	"" []	EFO:0001109	"" []	205080	\N	\N	EFO	1	EFO	B cell derived cell line	GM06994
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001109	"" []	558190	\N	\N	EFO	2	EFO	cell line	GM06994
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001109	"" []	1140480	\N	\N	EFO	3	EFO	material entity	GM06994
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001109	"" []	2023461	\N	\N	EFO	4	EFO	experimental factor	GM06994
EFO:0001110	\N	\N	"" []	EFO:0001110	"" []	64546	\N	\N	EFO	0	EFO	GM07000	GM07000
EFO:0001640	EFO:0001110	\N	"" []	EFO:0001110	"" []	205081	\N	\N	EFO	1	EFO	B cell derived cell line	GM07000
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001110	"" []	558191	\N	\N	EFO	2	EFO	cell line	GM07000
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001110	"" []	1140481	\N	\N	EFO	3	EFO	material entity	GM07000
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001110	"" []	2023462	\N	\N	EFO	4	EFO	experimental factor	GM07000
EFO:0001111	\N	\N	"" []	EFO:0001111	"" []	64547	\N	\N	EFO	0	EFO	GM07022	GM07022
EFO:0001640	EFO:0001111	\N	"" []	EFO:0001111	"" []	205082	\N	\N	EFO	1	EFO	B cell derived cell line	GM07022
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001111	"" []	558192	\N	\N	EFO	2	EFO	cell line	GM07022
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001111	"" []	1140482	\N	\N	EFO	3	EFO	material entity	GM07022
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001111	"" []	2023463	\N	\N	EFO	4	EFO	experimental factor	GM07022
EFO:0001112	\N	\N	"" []	EFO:0001112	"" []	64548	\N	\N	EFO	0	EFO	GM07034	GM07034
EFO:0001640	EFO:0001112	\N	"" []	EFO:0001112	"" []	205083	\N	\N	EFO	1	EFO	B cell derived cell line	GM07034
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001112	"" []	558193	\N	\N	EFO	2	EFO	cell line	GM07034
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001112	"" []	1140483	\N	\N	EFO	3	EFO	material entity	GM07034
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001112	"" []	2023464	\N	\N	EFO	4	EFO	experimental factor	GM07034
EFO:0001113	\N	\N	"" []	EFO:0001113	"" []	64549	\N	\N	EFO	0	EFO	GM07055	GM07055
EFO:0001640	EFO:0001113	\N	"" []	EFO:0001113	"" []	205084	\N	\N	EFO	1	EFO	B cell derived cell line	GM07055
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001113	"" []	558194	\N	\N	EFO	2	EFO	cell line	GM07055
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001113	"" []	1140484	\N	\N	EFO	3	EFO	material entity	GM07055
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001113	"" []	2023465	\N	\N	EFO	4	EFO	experimental factor	GM07055
EFO:0001114	\N	\N	"" []	EFO:0001114	"" []	64550	\N	\N	EFO	0	EFO	GM07056	GM07056
EFO:0001640	EFO:0001114	\N	"" []	EFO:0001114	"" []	205085	\N	\N	EFO	1	EFO	B cell derived cell line	GM07056
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001114	"" []	558195	\N	\N	EFO	2	EFO	cell line	GM07056
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001114	"" []	1140485	\N	\N	EFO	3	EFO	material entity	GM07056
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001114	"" []	2023466	\N	\N	EFO	4	EFO	experimental factor	GM07056
EFO:0001115	\N	\N	"" []	EFO:0001115	"" []	64551	\N	\N	EFO	0	EFO	GM07345	GM07345
EFO:0001640	EFO:0001115	\N	"" []	EFO:0001115	"" []	205086	\N	\N	EFO	1	EFO	B cell derived cell line	GM07345
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001115	"" []	558196	\N	\N	EFO	2	EFO	cell line	GM07345
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001115	"" []	1140486	\N	\N	EFO	3	EFO	material entity	GM07345
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001115	"" []	2023467	\N	\N	EFO	4	EFO	experimental factor	GM07345
EFO:0001116	\N	\N	"" []	EFO:0001116	"" []	64552	\N	\N	EFO	0	EFO	GM07357	GM07357
EFO:0001640	EFO:0001116	\N	"" []	EFO:0001116	"" []	205087	\N	\N	EFO	1	EFO	B cell derived cell line	GM07357
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001116	"" []	558197	\N	\N	EFO	2	EFO	cell line	GM07357
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001116	"" []	1140487	\N	\N	EFO	3	EFO	material entity	GM07357
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001116	"" []	2023468	\N	\N	EFO	4	EFO	experimental factor	GM07357
EFO:0001117	\N	\N	"" []	EFO:0001117	"" []	64553	\N	\N	EFO	0	EFO	GM11829	GM11829
EFO:0001640	EFO:0001117	\N	"" []	EFO:0001117	"" []	205088	\N	\N	EFO	1	EFO	B cell derived cell line	GM11829
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001117	"" []	558198	\N	\N	EFO	2	EFO	cell line	GM11829
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001117	"" []	1140488	\N	\N	EFO	3	EFO	material entity	GM11829
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001117	"" []	2023469	\N	\N	EFO	4	EFO	experimental factor	GM11829
EFO:0001118	\N	\N	"" []	EFO:0001118	"" []	64554	\N	\N	EFO	0	EFO	GM11830	GM11830
EFO:0001640	EFO:0001118	\N	"" []	EFO:0001118	"" []	205089	\N	\N	EFO	1	EFO	B cell derived cell line	GM11830
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001118	"" []	558199	\N	\N	EFO	2	EFO	cell line	GM11830
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001118	"" []	1140489	\N	\N	EFO	3	EFO	material entity	GM11830
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001118	"" []	2023470	\N	\N	EFO	4	EFO	experimental factor	GM11830
EFO:0001119	\N	\N	"" []	EFO:0001119	"" []	64555	\N	\N	EFO	0	EFO	GM11831	GM11831
EFO:0001640	EFO:0001119	\N	"" []	EFO:0001119	"" []	205090	\N	\N	EFO	1	EFO	B cell derived cell line	GM11831
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001119	"" []	558200	\N	\N	EFO	2	EFO	cell line	GM11831
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001119	"" []	1140490	\N	\N	EFO	3	EFO	material entity	GM11831
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001119	"" []	2023471	\N	\N	EFO	4	EFO	experimental factor	GM11831
EFO:0001120	\N	\N	"" []	EFO:0001120	"" []	64556	\N	\N	EFO	0	EFO	GM11832	GM11832
EFO:0001640	EFO:0001120	\N	"" []	EFO:0001120	"" []	205091	\N	\N	EFO	1	EFO	B cell derived cell line	GM11832
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001120	"" []	558201	\N	\N	EFO	2	EFO	cell line	GM11832
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001120	"" []	1140491	\N	\N	EFO	3	EFO	material entity	GM11832
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001120	"" []	2023472	\N	\N	EFO	4	EFO	experimental factor	GM11832
EFO:0001121	\N	\N	"" []	EFO:0001121	"" []	64557	\N	\N	EFO	0	EFO	GM11839	GM11839
EFO:0001640	EFO:0001121	\N	"" []	EFO:0001121	"" []	205092	\N	\N	EFO	1	EFO	B cell derived cell line	GM11839
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001121	"" []	558202	\N	\N	EFO	2	EFO	cell line	GM11839
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001121	"" []	1140492	\N	\N	EFO	3	EFO	material entity	GM11839
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001121	"" []	2023473	\N	\N	EFO	4	EFO	experimental factor	GM11839
EFO:0001122	\N	\N	"" []	EFO:0001122	"" []	64558	\N	\N	EFO	0	EFO	GM11881	GM11881
EFO:0001640	EFO:0001122	\N	"" []	EFO:0001122	"" []	205093	\N	\N	EFO	1	EFO	B cell derived cell line	GM11881
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001122	"" []	558203	\N	\N	EFO	2	EFO	cell line	GM11881
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001122	"" []	1140493	\N	\N	EFO	3	EFO	material entity	GM11881
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001122	"" []	2023474	\N	\N	EFO	4	EFO	experimental factor	GM11881
EFO:0001123	\N	\N	"" []	EFO:0001123	"" []	64559	\N	\N	EFO	0	EFO	GM11882	GM11882
EFO:0001640	EFO:0001123	\N	"" []	EFO:0001123	"" []	205094	\N	\N	EFO	1	EFO	B cell derived cell line	GM11882
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001123	"" []	558204	\N	\N	EFO	2	EFO	cell line	GM11882
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001123	"" []	1140494	\N	\N	EFO	3	EFO	material entity	GM11882
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001123	"" []	2023475	\N	\N	EFO	4	EFO	experimental factor	GM11882
EFO:0001124	\N	\N	"" []	EFO:0001124	"" []	64560	\N	\N	EFO	0	EFO	GM11992	GM11992
EFO:0001640	EFO:0001124	\N	"" []	EFO:0001124	"" []	205095	\N	\N	EFO	1	EFO	B cell derived cell line	GM11992
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001124	"" []	558205	\N	\N	EFO	2	EFO	cell line	GM11992
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001124	"" []	1140495	\N	\N	EFO	3	EFO	material entity	GM11992
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001124	"" []	2023476	\N	\N	EFO	4	EFO	experimental factor	GM11992
EFO:0001125	\N	\N	"" []	EFO:0001125	"" []	64561	\N	\N	EFO	0	EFO	GM11993	GM11993
EFO:0001640	EFO:0001125	\N	"" []	EFO:0001125	"" []	205096	\N	\N	EFO	1	EFO	B cell derived cell line	GM11993
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001125	"" []	558206	\N	\N	EFO	2	EFO	cell line	GM11993
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001125	"" []	1140496	\N	\N	EFO	3	EFO	material entity	GM11993
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001125	"" []	2023477	\N	\N	EFO	4	EFO	experimental factor	GM11993
EFO:0001126	\N	\N	"" []	EFO:0001126	"" []	64562	\N	\N	EFO	0	EFO	GM11994	GM11994
EFO:0001640	EFO:0001126	\N	"" []	EFO:0001126	"" []	205097	\N	\N	EFO	1	EFO	B cell derived cell line	GM11994
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001126	"" []	558207	\N	\N	EFO	2	EFO	cell line	GM11994
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001126	"" []	1140497	\N	\N	EFO	3	EFO	material entity	GM11994
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001126	"" []	2023478	\N	\N	EFO	4	EFO	experimental factor	GM11994
EFO:0001127	\N	\N	"" []	EFO:0001127	"" []	64563	\N	\N	EFO	0	EFO	GM11995	GM11995
EFO:0001640	EFO:0001127	\N	"" []	EFO:0001127	"" []	205098	\N	\N	EFO	1	EFO	B cell derived cell line	GM11995
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001127	"" []	558208	\N	\N	EFO	2	EFO	cell line	GM11995
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001127	"" []	1140498	\N	\N	EFO	3	EFO	material entity	GM11995
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001127	"" []	2023479	\N	\N	EFO	4	EFO	experimental factor	GM11995
EFO:0001128	\N	\N	"" []	EFO:0001128	"" []	64564	\N	\N	EFO	0	EFO	GM12003	GM12003
EFO:0001640	EFO:0001128	\N	"" []	EFO:0001128	"" []	205099	\N	\N	EFO	1	EFO	B cell derived cell line	GM12003
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001128	"" []	558209	\N	\N	EFO	2	EFO	cell line	GM12003
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001128	"" []	1140499	\N	\N	EFO	3	EFO	material entity	GM12003
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001128	"" []	2023480	\N	\N	EFO	4	EFO	experimental factor	GM12003
EFO:0001129	\N	\N	"" []	EFO:0001129	"" []	64565	\N	\N	EFO	0	EFO	GM12004	GM12004
EFO:0001640	EFO:0001129	\N	"" []	EFO:0001129	"" []	205100	\N	\N	EFO	1	EFO	B cell derived cell line	GM12004
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001129	"" []	558210	\N	\N	EFO	2	EFO	cell line	GM12004
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001129	"" []	1140500	\N	\N	EFO	3	EFO	material entity	GM12004
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001129	"" []	2023481	\N	\N	EFO	4	EFO	experimental factor	GM12004
EFO:0001130	\N	\N	"" []	EFO:0001130	"" []	64566	\N	\N	EFO	0	EFO	GM12005	GM12005
EFO:0001640	EFO:0001130	\N	"" []	EFO:0001130	"" []	205101	\N	\N	EFO	1	EFO	B cell derived cell line	GM12005
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001130	"" []	558211	\N	\N	EFO	2	EFO	cell line	GM12005
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001130	"" []	1140501	\N	\N	EFO	3	EFO	material entity	GM12005
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001130	"" []	2023482	\N	\N	EFO	4	EFO	experimental factor	GM12005
EFO:0001131	\N	\N	"" []	EFO:0001131	"" []	64567	\N	\N	EFO	0	EFO	GM12006	GM12006
EFO:0001640	EFO:0001131	\N	"" []	EFO:0001131	"" []	205102	\N	\N	EFO	1	EFO	B cell derived cell line	GM12006
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001131	"" []	558212	\N	\N	EFO	2	EFO	cell line	GM12006
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001131	"" []	1140502	\N	\N	EFO	3	EFO	material entity	GM12006
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001131	"" []	2023483	\N	\N	EFO	4	EFO	experimental factor	GM12006
EFO:0001132	\N	\N	"" []	EFO:0001132	"" []	64568	\N	\N	EFO	0	EFO	GM12043	GM12043
EFO:0001640	EFO:0001132	\N	"" []	EFO:0001132	"" []	205103	\N	\N	EFO	1	EFO	B cell derived cell line	GM12043
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001132	"" []	558213	\N	\N	EFO	2	EFO	cell line	GM12043
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001132	"" []	1140503	\N	\N	EFO	3	EFO	material entity	GM12043
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001132	"" []	2023484	\N	\N	EFO	4	EFO	experimental factor	GM12043
EFO:0001133	\N	\N	"" []	EFO:0001133	"" []	64569	\N	\N	EFO	0	EFO	GM12044	GM12044
EFO:0001640	EFO:0001133	\N	"" []	EFO:0001133	"" []	205104	\N	\N	EFO	1	EFO	B cell derived cell line	GM12044
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001133	"" []	558214	\N	\N	EFO	2	EFO	cell line	GM12044
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001133	"" []	1140504	\N	\N	EFO	3	EFO	material entity	GM12044
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001133	"" []	2023485	\N	\N	EFO	4	EFO	experimental factor	GM12044
EFO:0001134	\N	\N	"" []	EFO:0001134	"" []	64570	\N	\N	EFO	0	EFO	GM12056	GM12056
EFO:0001640	EFO:0001134	\N	"" []	EFO:0001134	"" []	205105	\N	\N	EFO	1	EFO	B cell derived cell line	GM12056
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001134	"" []	558215	\N	\N	EFO	2	EFO	cell line	GM12056
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001134	"" []	1140505	\N	\N	EFO	3	EFO	material entity	GM12056
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001134	"" []	2023486	\N	\N	EFO	4	EFO	experimental factor	GM12056
EFO:0001135	\N	\N	"" []	EFO:0001135	"" []	64571	\N	\N	EFO	0	EFO	GM12057	GM12057
EFO:0001640	EFO:0001135	\N	"" []	EFO:0001135	"" []	205106	\N	\N	EFO	1	EFO	B cell derived cell line	GM12057
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001135	"" []	558216	\N	\N	EFO	2	EFO	cell line	GM12057
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001135	"" []	1140506	\N	\N	EFO	3	EFO	material entity	GM12057
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001135	"" []	2023487	\N	\N	EFO	4	EFO	experimental factor	GM12057
EFO:0001136	\N	\N	"" []	EFO:0001136	"" []	64572	\N	\N	EFO	0	EFO	GM12144	GM12144
EFO:0001640	EFO:0001136	\N	"" []	EFO:0001136	"" []	205107	\N	\N	EFO	1	EFO	B cell derived cell line	GM12144
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001136	"" []	558217	\N	\N	EFO	2	EFO	cell line	GM12144
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001136	"" []	1140507	\N	\N	EFO	3	EFO	material entity	GM12144
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001136	"" []	2023488	\N	\N	EFO	4	EFO	experimental factor	GM12144
EFO:0001137	\N	\N	"" []	EFO:0001137	"" []	64573	\N	\N	EFO	0	EFO	GM12145	GM12145
EFO:0001640	EFO:0001137	\N	"" []	EFO:0001137	"" []	205108	\N	\N	EFO	1	EFO	B cell derived cell line	GM12145
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001137	"" []	558218	\N	\N	EFO	2	EFO	cell line	GM12145
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001137	"" []	1140508	\N	\N	EFO	3	EFO	material entity	GM12145
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001137	"" []	2023489	\N	\N	EFO	4	EFO	experimental factor	GM12145
EFO:0001138	\N	\N	"" []	EFO:0001138	"" []	64574	\N	\N	EFO	0	EFO	GM12146	GM12146
EFO:0001640	EFO:0001138	\N	"" []	EFO:0001138	"" []	205109	\N	\N	EFO	1	EFO	B cell derived cell line	GM12146
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001138	"" []	558219	\N	\N	EFO	2	EFO	cell line	GM12146
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001138	"" []	1140509	\N	\N	EFO	3	EFO	material entity	GM12146
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001138	"" []	2023490	\N	\N	EFO	4	EFO	experimental factor	GM12146
EFO:0001139	\N	\N	"" []	EFO:0001139	"" []	64575	\N	\N	EFO	0	EFO	GM12154	GM12154
EFO:0001640	EFO:0001139	\N	"" []	EFO:0001139	"" []	205110	\N	\N	EFO	1	EFO	B cell derived cell line	GM12154
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001139	"" []	558220	\N	\N	EFO	2	EFO	cell line	GM12154
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001139	"" []	1140510	\N	\N	EFO	3	EFO	material entity	GM12154
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001139	"" []	2023491	\N	\N	EFO	4	EFO	experimental factor	GM12154
EFO:0001140	\N	\N	"" []	EFO:0001140	"" []	64576	\N	\N	EFO	0	EFO	GM12155	GM12155
EFO:0001640	EFO:0001140	\N	"" []	EFO:0001140	"" []	205111	\N	\N	EFO	1	EFO	B cell derived cell line	GM12155
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001140	"" []	558221	\N	\N	EFO	2	EFO	cell line	GM12155
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001140	"" []	1140511	\N	\N	EFO	3	EFO	material entity	GM12155
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001140	"" []	2023492	\N	\N	EFO	4	EFO	experimental factor	GM12155
EFO:0001141	\N	\N	"" []	EFO:0001141	"" []	64577	\N	\N	EFO	0	EFO	GM12156	GM12156
EFO:0001640	EFO:0001141	\N	"" []	EFO:0001141	"" []	205112	\N	\N	EFO	1	EFO	B cell derived cell line	GM12156
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001141	"" []	558222	\N	\N	EFO	2	EFO	cell line	GM12156
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001141	"" []	1140512	\N	\N	EFO	3	EFO	material entity	GM12156
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001141	"" []	2023493	\N	\N	EFO	4	EFO	experimental factor	GM12156
EFO:0001142	\N	\N	"" []	EFO:0001142	"" []	64578	\N	\N	EFO	0	EFO	GM12234	GM12234
EFO:0001640	EFO:0001142	\N	"" []	EFO:0001142	"" []	205113	\N	\N	EFO	1	EFO	B cell derived cell line	GM12234
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001142	"" []	558223	\N	\N	EFO	2	EFO	cell line	GM12234
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001142	"" []	1140513	\N	\N	EFO	3	EFO	material entity	GM12234
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001142	"" []	2023494	\N	\N	EFO	4	EFO	experimental factor	GM12234
EFO:0001143	\N	\N	"" []	EFO:0001143	"" []	64579	\N	\N	EFO	0	EFO	GM12236	GM12236
EFO:0001640	EFO:0001143	\N	"" []	EFO:0001143	"" []	205114	\N	\N	EFO	1	EFO	B cell derived cell line	GM12236
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001143	"" []	558224	\N	\N	EFO	2	EFO	cell line	GM12236
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001143	"" []	1140514	\N	\N	EFO	3	EFO	material entity	GM12236
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001143	"" []	2023495	\N	\N	EFO	4	EFO	experimental factor	GM12236
EFO:0001144	\N	\N	"" []	EFO:0001144	"" []	64580	\N	\N	EFO	0	EFO	GM12239	GM12239
EFO:0001640	EFO:0001144	\N	"" []	EFO:0001144	"" []	205115	\N	\N	EFO	1	EFO	B cell derived cell line	GM12239
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001144	"" []	558225	\N	\N	EFO	2	EFO	cell line	GM12239
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001144	"" []	1140515	\N	\N	EFO	3	EFO	material entity	GM12239
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001144	"" []	2023496	\N	\N	EFO	4	EFO	experimental factor	GM12239
EFO:0001145	\N	\N	"" []	EFO:0001145	"" []	64581	\N	\N	EFO	0	EFO	GM12248	GM12248
EFO:0001640	EFO:0001145	\N	"" []	EFO:0001145	"" []	205116	\N	\N	EFO	1	EFO	B cell derived cell line	GM12248
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001145	"" []	558226	\N	\N	EFO	2	EFO	cell line	GM12248
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001145	"" []	1140516	\N	\N	EFO	3	EFO	material entity	GM12248
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001145	"" []	2023497	\N	\N	EFO	4	EFO	experimental factor	GM12248
EFO:0001146	\N	\N	"" []	EFO:0001146	"" []	64582	\N	\N	EFO	0	EFO	GM12249	GM12249
EFO:0001640	EFO:0001146	\N	"" []	EFO:0001146	"" []	205117	\N	\N	EFO	1	EFO	B cell derived cell line	GM12249
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001146	"" []	558227	\N	\N	EFO	2	EFO	cell line	GM12249
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001146	"" []	1140517	\N	\N	EFO	3	EFO	material entity	GM12249
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001146	"" []	2023498	\N	\N	EFO	4	EFO	experimental factor	GM12249
EFO:0001147	\N	\N	"" []	EFO:0001147	"" []	64583	\N	\N	EFO	0	EFO	GM12716	GM12716
EFO:0001640	EFO:0001147	\N	"" []	EFO:0001147	"" []	205118	\N	\N	EFO	1	EFO	B cell derived cell line	GM12716
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001147	"" []	558228	\N	\N	EFO	2	EFO	cell line	GM12716
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001147	"" []	1140518	\N	\N	EFO	3	EFO	material entity	GM12716
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001147	"" []	2023499	\N	\N	EFO	4	EFO	experimental factor	GM12716
EFO:0001148	\N	\N	"" []	EFO:0001148	"" []	64584	\N	\N	EFO	0	EFO	GM12717	GM12717
EFO:0001640	EFO:0001148	\N	"" []	EFO:0001148	"" []	205119	\N	\N	EFO	1	EFO	B cell derived cell line	GM12717
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001148	"" []	558229	\N	\N	EFO	2	EFO	cell line	GM12717
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001148	"" []	1140519	\N	\N	EFO	3	EFO	material entity	GM12717
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001148	"" []	2023500	\N	\N	EFO	4	EFO	experimental factor	GM12717
EFO:0001149	\N	\N	"A lymphoblastoid cell line derived from CEPH/UTAH PEDIGREE 1444." []	EFO:0001149	"A lymphoblastoid cell line derived from CEPH/UTAH PEDIGREE 1444." []	64585	\N	\N	EFO	0	EFO	GM12750	GM12750
EFO:0002888	EFO:0001149	\N	"" []	EFO:0001149	"A lymphoblastoid cell line derived from CEPH/UTAH PEDIGREE 1444." []	205120	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12750
EFO:0002933	EFO:0001149	\N	"Cell lines used in experiments under the HapMap Project" []	EFO:0001149	"A lymphoblastoid cell line derived from CEPH/UTAH PEDIGREE 1444." []	205121	\N	\N	EFO	1	EFO	HapMap cell line	GM12750
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001149	"A lymphoblastoid cell line derived from CEPH/UTAH PEDIGREE 1444." []	558230	\N	\N	EFO	2	EFO	cell line	GM12750
EFO:0000322	EFO:0002933	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001149	"A lymphoblastoid cell line derived from CEPH/UTAH PEDIGREE 1444." []	558231	\N	\N	EFO	2	EFO	cell line	GM12750
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001149	"A lymphoblastoid cell line derived from CEPH/UTAH PEDIGREE 1444." []	1140520	\N	\N	EFO	3	EFO	material entity	GM12750
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001149	"A lymphoblastoid cell line derived from CEPH/UTAH PEDIGREE 1444." []	2023501	\N	\N	EFO	4	EFO	experimental factor	GM12750
EFO:0001150	\N	\N	"" []	EFO:0001150	"" []	64586	\N	\N	EFO	0	EFO	GM12751	GM12751
EFO:0001640	EFO:0001150	\N	"" []	EFO:0001150	"" []	205122	\N	\N	EFO	1	EFO	B cell derived cell line	GM12751
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001150	"" []	558232	\N	\N	EFO	2	EFO	cell line	GM12751
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001150	"" []	1140521	\N	\N	EFO	3	EFO	material entity	GM12751
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001150	"" []	2023502	\N	\N	EFO	4	EFO	experimental factor	GM12751
EFO:0001151	\N	\N	"" []	EFO:0001151	"" []	64587	\N	\N	EFO	0	EFO	GM12760	GM12760
EFO:0001640	EFO:0001151	\N	"" []	EFO:0001151	"" []	205123	\N	\N	EFO	1	EFO	B cell derived cell line	GM12760
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001151	"" []	558233	\N	\N	EFO	2	EFO	cell line	GM12760
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001151	"" []	1140522	\N	\N	EFO	3	EFO	material entity	GM12760
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001151	"" []	2023503	\N	\N	EFO	4	EFO	experimental factor	GM12760
EFO:0001152	\N	\N	"" []	EFO:0001152	"" []	64588	\N	\N	EFO	0	EFO	GM12761	GM12761
EFO:0001640	EFO:0001152	\N	"" []	EFO:0001152	"" []	205124	\N	\N	EFO	1	EFO	B cell derived cell line	GM12761
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001152	"" []	558234	\N	\N	EFO	2	EFO	cell line	GM12761
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001152	"" []	1140523	\N	\N	EFO	3	EFO	material entity	GM12761
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001152	"" []	2023504	\N	\N	EFO	4	EFO	experimental factor	GM12761
EFO:0001153	\N	\N	"" []	EFO:0001153	"" []	64589	\N	\N	EFO	0	EFO	GM12762	GM12762
EFO:0001640	EFO:0001153	\N	"" []	EFO:0001153	"" []	205125	\N	\N	EFO	1	EFO	B cell derived cell line	GM12762
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001153	"" []	558235	\N	\N	EFO	2	EFO	cell line	GM12762
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001153	"" []	1140524	\N	\N	EFO	3	EFO	material entity	GM12762
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001153	"" []	2023505	\N	\N	EFO	4	EFO	experimental factor	GM12762
EFO:0001154	\N	\N	"" []	EFO:0001154	"" []	64590	\N	\N	EFO	0	EFO	GM12763	GM12763
EFO:0001640	EFO:0001154	\N	"" []	EFO:0001154	"" []	205126	\N	\N	EFO	1	EFO	B cell derived cell line	GM12763
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001154	"" []	558236	\N	\N	EFO	2	EFO	cell line	GM12763
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001154	"" []	1140525	\N	\N	EFO	3	EFO	material entity	GM12763
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001154	"" []	2023506	\N	\N	EFO	4	EFO	experimental factor	GM12763
EFO:0001155	\N	\N	"" []	EFO:0001155	"" []	64591	\N	\N	EFO	0	EFO	GM12812	GM12812
EFO:0001640	EFO:0001155	\N	"" []	EFO:0001155	"" []	205127	\N	\N	EFO	1	EFO	B cell derived cell line	GM12812
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001155	"" []	558237	\N	\N	EFO	2	EFO	cell line	GM12812
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001155	"" []	1140526	\N	\N	EFO	3	EFO	material entity	GM12812
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001155	"" []	2023507	\N	\N	EFO	4	EFO	experimental factor	GM12812
EFO:0001156	\N	\N	"" []	EFO:0001156	"" []	64592	\N	\N	EFO	0	EFO	GM12813	GM12813
EFO:0001640	EFO:0001156	\N	"" []	EFO:0001156	"" []	205128	\N	\N	EFO	1	EFO	B cell derived cell line	GM12813
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001156	"" []	558238	\N	\N	EFO	2	EFO	cell line	GM12813
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001156	"" []	1140527	\N	\N	EFO	3	EFO	material entity	GM12813
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001156	"" []	2023508	\N	\N	EFO	4	EFO	experimental factor	GM12813
EFO:0001157	\N	\N	"" []	EFO:0001157	"" []	64593	\N	\N	EFO	0	EFO	GM12814	GM12814
EFO:0001640	EFO:0001157	\N	"" []	EFO:0001157	"" []	205129	\N	\N	EFO	1	EFO	B cell derived cell line	GM12814
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001157	"" []	558239	\N	\N	EFO	2	EFO	cell line	GM12814
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001157	"" []	1140528	\N	\N	EFO	3	EFO	material entity	GM12814
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001157	"" []	2023509	\N	\N	EFO	4	EFO	experimental factor	GM12814
EFO:0001158	\N	\N	"" []	EFO:0001158	"" []	64594	\N	\N	EFO	0	EFO	GM12815	GM12815
EFO:0001640	EFO:0001158	\N	"" []	EFO:0001158	"" []	205130	\N	\N	EFO	1	EFO	B cell derived cell line	GM12815
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001158	"" []	558240	\N	\N	EFO	2	EFO	cell line	GM12815
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001158	"" []	1140529	\N	\N	EFO	3	EFO	material entity	GM12815
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001158	"" []	2023510	\N	\N	EFO	4	EFO	experimental factor	GM12815
EFO:0001159	\N	\N	"" []	EFO:0001159	"" []	64595	\N	\N	EFO	0	EFO	GM12872	GM12872
EFO:0001640	EFO:0001159	\N	"" []	EFO:0001159	"" []	205131	\N	\N	EFO	1	EFO	B cell derived cell line	GM12872
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001159	"" []	558241	\N	\N	EFO	2	EFO	cell line	GM12872
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001159	"" []	1140530	\N	\N	EFO	3	EFO	material entity	GM12872
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001159	"" []	2023511	\N	\N	EFO	4	EFO	experimental factor	GM12872
EFO:0001160	\N	\N	"" []	EFO:0001160	"" []	64596	\N	\N	EFO	0	EFO	GM12873	GM12873
EFO:0001640	EFO:0001160	\N	"" []	EFO:0001160	"" []	205132	\N	\N	EFO	1	EFO	B cell derived cell line	GM12873
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001160	"" []	558242	\N	\N	EFO	2	EFO	cell line	GM12873
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001160	"" []	1140531	\N	\N	EFO	3	EFO	material entity	GM12873
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001160	"" []	2023512	\N	\N	EFO	4	EFO	experimental factor	GM12873
EFO:0001161	\N	\N	"" []	EFO:0001161	"" []	64597	\N	\N	EFO	0	EFO	GM12874	GM12874
EFO:0001640	EFO:0001161	\N	"" []	EFO:0001161	"" []	205133	\N	\N	EFO	1	EFO	B cell derived cell line	GM12874
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001161	"" []	558243	\N	\N	EFO	2	EFO	cell line	GM12874
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001161	"" []	1140532	\N	\N	EFO	3	EFO	material entity	GM12874
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001161	"" []	2023513	\N	\N	EFO	4	EFO	experimental factor	GM12874
EFO:0001162	\N	\N	"" []	EFO:0001162	"" []	64598	\N	\N	EFO	0	EFO	GM12875	GM12875
EFO:0001640	EFO:0001162	\N	"" []	EFO:0001162	"" []	205134	\N	\N	EFO	1	EFO	B cell derived cell line	GM12875
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001162	"" []	558244	\N	\N	EFO	2	EFO	cell line	GM12875
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001162	"" []	1140533	\N	\N	EFO	3	EFO	material entity	GM12875
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001162	"" []	2023514	\N	\N	EFO	4	EFO	experimental factor	GM12875
EFO:0001166	\N	\N	"" []	EFO:0001166	"" []	64599	\N	\N	EFO	0	EFO	H720	H720
EFO:0001641	EFO:0001166	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001166	"" []	205135	\N	\N	EFO	1	EFO	epithelial cell derived cell line	H720
EFO:0002934	EFO:0001166	\N	"" []	EFO:0001166	"" []	205136	\N	\N	EFO	1	EFO	lung cancer cell line	H720
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001166	"" []	558245	\N	\N	EFO	2	EFO	cell line	H720
EFO:0001639	EFO:0002934	\N	"" []	EFO:0001166	"" []	558246	\N	\N	EFO	2	EFO	cancer cell line	H720
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001166	"" []	2023516	\N	\N	EFO	4	EFO	material entity	H720
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001166	"" []	1140535	\N	\N	EFO	3	EFO	cell line	H720
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001166	"" []	2999264	\N	\N	EFO	5	EFO	experimental factor	H720
EFO:0001167	\N	\N	"" []	EFO:0001167	"" []	64600	\N	\N	EFO	0	EFO	HBL100	HBL100
EFO:0001641	EFO:0001167	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001167	"" []	205137	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HBL100
EFO:0002884	EFO:0001167	\N	"" []	EFO:0001167	"" []	205138	\N	\N	EFO	1	EFO	mammary gland cell line	HBL100
EFO:0002885	EFO:0001167	\N	"" []	EFO:0001167	"" []	205139	\N	\N	EFO	1	EFO	breast cancer cell line	HBL100
EFO:0002888	EFO:0001167	\N	"" []	EFO:0001167	"" []	205140	\N	\N	EFO	1	EFO	Homo sapiens cell line	HBL100
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001167	"" []	558247	\N	\N	EFO	2	EFO	cell line	HBL100
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001167	"" []	558248	\N	\N	EFO	2	EFO	cell line	HBL100
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001167	"" []	558249	\N	\N	EFO	2	EFO	cancer cell line	HBL100
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001167	"" []	558250	\N	\N	EFO	2	EFO	cell line	HBL100
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001167	"" []	2023518	\N	\N	EFO	4	EFO	material entity	HBL100
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001167	"" []	1140537	\N	\N	EFO	3	EFO	cell line	HBL100
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001167	"" []	2999265	\N	\N	EFO	5	EFO	experimental factor	HBL100
EFO:0001168	\N	\N	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	EFO:0001168	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	64601	\N	\N	EFO	0	EFO	HCC1007	HCC1007
EFO:0001641	EFO:0001168	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001168	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	205141	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1007
EFO:0002884	EFO:0001168	\N	"" []	EFO:0001168	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	205142	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1007
EFO:0002885	EFO:0001168	\N	"" []	EFO:0001168	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	205143	\N	\N	EFO	1	EFO	breast cancer cell line	HCC1007
EFO:0002888	EFO:0001168	\N	"" []	EFO:0001168	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	205144	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1007
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001168	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	558251	\N	\N	EFO	2	EFO	cell line	HCC1007
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001168	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	558252	\N	\N	EFO	2	EFO	cell line	HCC1007
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001168	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	558253	\N	\N	EFO	2	EFO	cancer cell line	HCC1007
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001168	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	558254	\N	\N	EFO	2	EFO	cell line	HCC1007
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001168	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	2023520	\N	\N	EFO	4	EFO	material entity	HCC1007
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001168	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	1140539	\N	\N	EFO	3	EFO	cell line	HCC1007
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001168	"A HCC1007 is a cell line.\\nA HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland." []	2999266	\N	\N	EFO	5	EFO	experimental factor	HCC1007
EFO:0001169	\N	\N	"" []	EFO:0001169	"" []	64602	\N	\N	EFO	0	EFO	HCC1143	HCC1143
EFO:0001641	EFO:0001169	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001169	"" []	205145	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1143
EFO:0002884	EFO:0001169	\N	"" []	EFO:0001169	"" []	205146	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1143
EFO:0002885	EFO:0001169	\N	"" []	EFO:0001169	"" []	205147	\N	\N	EFO	1	EFO	breast cancer cell line	HCC1143
EFO:0002888	EFO:0001169	\N	"" []	EFO:0001169	"" []	205148	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1143
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001169	"" []	558255	\N	\N	EFO	2	EFO	cell line	HCC1143
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001169	"" []	558256	\N	\N	EFO	2	EFO	cell line	HCC1143
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001169	"" []	558257	\N	\N	EFO	2	EFO	cancer cell line	HCC1143
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001169	"" []	558258	\N	\N	EFO	2	EFO	cell line	HCC1143
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001169	"" []	2023522	\N	\N	EFO	4	EFO	material entity	HCC1143
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001169	"" []	1140541	\N	\N	EFO	3	EFO	cell line	HCC1143
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001169	"" []	2999267	\N	\N	EFO	5	EFO	experimental factor	HCC1143
EFO:0001170	\N	\N	"" []	EFO:0001170	"" []	64603	\N	\N	EFO	0	EFO	HCC1187	HCC1187
EFO:0001641	EFO:0001170	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001170	"" []	205149	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1187
EFO:0002884	EFO:0001170	\N	"" []	EFO:0001170	"" []	205150	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1187
EFO:0002885	EFO:0001170	\N	"" []	EFO:0001170	"" []	205151	\N	\N	EFO	1	EFO	breast cancer cell line	HCC1187
EFO:0002888	EFO:0001170	\N	"" []	EFO:0001170	"" []	205152	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1187
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001170	"" []	558259	\N	\N	EFO	2	EFO	cell line	HCC1187
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001170	"" []	558260	\N	\N	EFO	2	EFO	cell line	HCC1187
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001170	"" []	558261	\N	\N	EFO	2	EFO	cancer cell line	HCC1187
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001170	"" []	558262	\N	\N	EFO	2	EFO	cell line	HCC1187
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001170	"" []	2023524	\N	\N	EFO	4	EFO	material entity	HCC1187
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001170	"" []	1140543	\N	\N	EFO	3	EFO	cell line	HCC1187
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001170	"" []	2999268	\N	\N	EFO	5	EFO	experimental factor	HCC1187
EFO:0001171	\N	\N	"" []	EFO:0001171	"" []	64604	\N	\N	EFO	0	EFO	HCC1428	HCC1428
EFO:0001641	EFO:0001171	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001171	"" []	205153	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1428
EFO:0002884	EFO:0001171	\N	"" []	EFO:0001171	"" []	205154	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1428
EFO:0002885	EFO:0001171	\N	"" []	EFO:0001171	"" []	205155	\N	\N	EFO	1	EFO	breast cancer cell line	HCC1428
EFO:0002888	EFO:0001171	\N	"" []	EFO:0001171	"" []	205156	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1428
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001171	"" []	558263	\N	\N	EFO	2	EFO	cell line	HCC1428
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001171	"" []	558264	\N	\N	EFO	2	EFO	cell line	HCC1428
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001171	"" []	558265	\N	\N	EFO	2	EFO	cancer cell line	HCC1428
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001171	"" []	558266	\N	\N	EFO	2	EFO	cell line	HCC1428
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001171	"" []	2023526	\N	\N	EFO	4	EFO	material entity	HCC1428
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001171	"" []	1140545	\N	\N	EFO	3	EFO	cell line	HCC1428
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001171	"" []	2999269	\N	\N	EFO	5	EFO	experimental factor	HCC1428
EFO:0001172	\N	\N	"" []	EFO:0001172	"" []	64605	\N	\N	EFO	0	EFO	HCC1500	HCC1500
EFO:0001641	EFO:0001172	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001172	"" []	205157	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1500
EFO:0002884	EFO:0001172	\N	"" []	EFO:0001172	"" []	205158	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1500
EFO:0002885	EFO:0001172	\N	"" []	EFO:0001172	"" []	205159	\N	\N	EFO	1	EFO	breast cancer cell line	HCC1500
EFO:0002888	EFO:0001172	\N	"" []	EFO:0001172	"" []	205160	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1500
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001172	"" []	558267	\N	\N	EFO	2	EFO	cell line	HCC1500
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001172	"" []	558268	\N	\N	EFO	2	EFO	cell line	HCC1500
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001172	"" []	558269	\N	\N	EFO	2	EFO	cancer cell line	HCC1500
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001172	"" []	558270	\N	\N	EFO	2	EFO	cell line	HCC1500
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001172	"" []	2023528	\N	\N	EFO	4	EFO	material entity	HCC1500
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001172	"" []	1140547	\N	\N	EFO	3	EFO	cell line	HCC1500
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001172	"" []	2999270	\N	\N	EFO	5	EFO	experimental factor	HCC1500
EFO:0001173	\N	\N	"" []	EFO:0001173	"" []	64606	\N	\N	EFO	0	EFO	HCC1569	HCC1569
EFO:0001641	EFO:0001173	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001173	"" []	205161	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1569
EFO:0002884	EFO:0001173	\N	"" []	EFO:0001173	"" []	205162	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1569
EFO:0002885	EFO:0001173	\N	"" []	EFO:0001173	"" []	205163	\N	\N	EFO	1	EFO	breast cancer cell line	HCC1569
EFO:0002888	EFO:0001173	\N	"" []	EFO:0001173	"" []	205164	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1569
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001173	"" []	558271	\N	\N	EFO	2	EFO	cell line	HCC1569
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001173	"" []	558272	\N	\N	EFO	2	EFO	cell line	HCC1569
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001173	"" []	558273	\N	\N	EFO	2	EFO	cancer cell line	HCC1569
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001173	"" []	558274	\N	\N	EFO	2	EFO	cell line	HCC1569
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001173	"" []	2023530	\N	\N	EFO	4	EFO	material entity	HCC1569
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001173	"" []	1140549	\N	\N	EFO	3	EFO	cell line	HCC1569
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001173	"" []	2999271	\N	\N	EFO	5	EFO	experimental factor	HCC1569
EFO:0001174	\N	\N	"" []	EFO:0001174	"" []	64607	\N	\N	EFO	0	EFO	HCC1937	HCC1937
EFO:0001641	EFO:0001174	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001174	"" []	205165	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1937
EFO:0002884	EFO:0001174	\N	"" []	EFO:0001174	"" []	205166	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1937
EFO:0002885	EFO:0001174	\N	"" []	EFO:0001174	"" []	205167	\N	\N	EFO	1	EFO	breast cancer cell line	HCC1937
EFO:0002888	EFO:0001174	\N	"" []	EFO:0001174	"" []	205168	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1937
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001174	"" []	558275	\N	\N	EFO	2	EFO	cell line	HCC1937
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001174	"" []	558276	\N	\N	EFO	2	EFO	cell line	HCC1937
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001174	"" []	558277	\N	\N	EFO	2	EFO	cancer cell line	HCC1937
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001174	"" []	558278	\N	\N	EFO	2	EFO	cell line	HCC1937
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001174	"" []	2023532	\N	\N	EFO	4	EFO	material entity	HCC1937
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001174	"" []	1140551	\N	\N	EFO	3	EFO	cell line	HCC1937
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001174	"" []	2999272	\N	\N	EFO	5	EFO	experimental factor	HCC1937
EFO:0001175	\N	\N	"" []	EFO:0001175	"" []	64608	\N	\N	EFO	0	EFO	HCC1954	HCC1954
EFO:0001641	EFO:0001175	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001175	"" []	205169	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1954
EFO:0002884	EFO:0001175	\N	"" []	EFO:0001175	"" []	205170	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1954
EFO:0002885	EFO:0001175	\N	"" []	EFO:0001175	"" []	205171	\N	\N	EFO	1	EFO	breast cancer cell line	HCC1954
EFO:0002888	EFO:0001175	\N	"" []	EFO:0001175	"" []	205172	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1954
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001175	"" []	558279	\N	\N	EFO	2	EFO	cell line	HCC1954
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001175	"" []	558280	\N	\N	EFO	2	EFO	cell line	HCC1954
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001175	"" []	558281	\N	\N	EFO	2	EFO	cancer cell line	HCC1954
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001175	"" []	558282	\N	\N	EFO	2	EFO	cell line	HCC1954
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001175	"" []	2023534	\N	\N	EFO	4	EFO	material entity	HCC1954
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001175	"" []	1140553	\N	\N	EFO	3	EFO	cell line	HCC1954
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001175	"" []	2999273	\N	\N	EFO	5	EFO	experimental factor	HCC1954
EFO:0001176	\N	\N	"" []	EFO:0001176	"" []	64609	\N	\N	EFO	0	EFO	HCC202	HCC202
EFO:0001641	EFO:0001176	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001176	"" []	205173	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC202
EFO:0002884	EFO:0001176	\N	"" []	EFO:0001176	"" []	205174	\N	\N	EFO	1	EFO	mammary gland cell line	HCC202
EFO:0002885	EFO:0001176	\N	"" []	EFO:0001176	"" []	205175	\N	\N	EFO	1	EFO	breast cancer cell line	HCC202
EFO:0002888	EFO:0001176	\N	"" []	EFO:0001176	"" []	205176	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC202
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001176	"" []	558283	\N	\N	EFO	2	EFO	cell line	HCC202
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001176	"" []	558284	\N	\N	EFO	2	EFO	cell line	HCC202
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001176	"" []	558285	\N	\N	EFO	2	EFO	cancer cell line	HCC202
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001176	"" []	558286	\N	\N	EFO	2	EFO	cell line	HCC202
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001176	"" []	2023536	\N	\N	EFO	4	EFO	material entity	HCC202
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001176	"" []	1140555	\N	\N	EFO	3	EFO	cell line	HCC202
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001176	"" []	2999274	\N	\N	EFO	5	EFO	experimental factor	HCC202
EFO:0001177	\N	\N	"" []	EFO:0001177	"" []	64610	\N	\N	EFO	0	EFO	HCC2157	HCC2157
EFO:0001641	EFO:0001177	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001177	"" []	205177	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC2157
EFO:0002884	EFO:0001177	\N	"" []	EFO:0001177	"" []	205178	\N	\N	EFO	1	EFO	mammary gland cell line	HCC2157
EFO:0002885	EFO:0001177	\N	"" []	EFO:0001177	"" []	205179	\N	\N	EFO	1	EFO	breast cancer cell line	HCC2157
EFO:0002888	EFO:0001177	\N	"" []	EFO:0001177	"" []	205180	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC2157
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001177	"" []	558287	\N	\N	EFO	2	EFO	cell line	HCC2157
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001177	"" []	558288	\N	\N	EFO	2	EFO	cell line	HCC2157
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001177	"" []	558289	\N	\N	EFO	2	EFO	cancer cell line	HCC2157
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001177	"" []	558290	\N	\N	EFO	2	EFO	cell line	HCC2157
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001177	"" []	2023538	\N	\N	EFO	4	EFO	material entity	HCC2157
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001177	"" []	1140557	\N	\N	EFO	3	EFO	cell line	HCC2157
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001177	"" []	2999275	\N	\N	EFO	5	EFO	experimental factor	HCC2157
EFO:0001178	\N	\N	"" []	EFO:0001178	"" []	64611	\N	\N	EFO	0	EFO	HCC2185	HCC2185
EFO:0001641	EFO:0001178	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001178	"" []	205181	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC2185
EFO:0002884	EFO:0001178	\N	"" []	EFO:0001178	"" []	205182	\N	\N	EFO	1	EFO	mammary gland cell line	HCC2185
EFO:0002885	EFO:0001178	\N	"" []	EFO:0001178	"" []	205183	\N	\N	EFO	1	EFO	breast cancer cell line	HCC2185
EFO:0002888	EFO:0001178	\N	"" []	EFO:0001178	"" []	205184	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC2185
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001178	"" []	558291	\N	\N	EFO	2	EFO	cell line	HCC2185
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001178	"" []	558292	\N	\N	EFO	2	EFO	cell line	HCC2185
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001178	"" []	558293	\N	\N	EFO	2	EFO	cancer cell line	HCC2185
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001178	"" []	558294	\N	\N	EFO	2	EFO	cell line	HCC2185
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001178	"" []	2023540	\N	\N	EFO	4	EFO	material entity	HCC2185
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001178	"" []	1140559	\N	\N	EFO	3	EFO	cell line	HCC2185
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001178	"" []	2999276	\N	\N	EFO	5	EFO	experimental factor	HCC2185
EFO:0001179	\N	\N	"" []	EFO:0001179	"" []	64612	\N	\N	EFO	0	EFO	HCC3153	HCC3153
EFO:0001641	EFO:0001179	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001179	"" []	205185	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC3153
EFO:0002884	EFO:0001179	\N	"" []	EFO:0001179	"" []	205186	\N	\N	EFO	1	EFO	mammary gland cell line	HCC3153
EFO:0002885	EFO:0001179	\N	"" []	EFO:0001179	"" []	205187	\N	\N	EFO	1	EFO	breast cancer cell line	HCC3153
EFO:0002888	EFO:0001179	\N	"" []	EFO:0001179	"" []	205188	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC3153
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001179	"" []	558295	\N	\N	EFO	2	EFO	cell line	HCC3153
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001179	"" []	558296	\N	\N	EFO	2	EFO	cell line	HCC3153
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001179	"" []	558297	\N	\N	EFO	2	EFO	cancer cell line	HCC3153
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001179	"" []	558298	\N	\N	EFO	2	EFO	cell line	HCC3153
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001179	"" []	2023542	\N	\N	EFO	4	EFO	material entity	HCC3153
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001179	"" []	1140561	\N	\N	EFO	3	EFO	cell line	HCC3153
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001179	"" []	2999277	\N	\N	EFO	5	EFO	experimental factor	HCC3153
EFO:0001180	\N	\N	"" []	EFO:0001180	"" []	64613	\N	\N	EFO	0	EFO	HCC38	HCC38
EFO:0001641	EFO:0001180	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001180	"" []	205189	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC38
EFO:0002884	EFO:0001180	\N	"" []	EFO:0001180	"" []	205190	\N	\N	EFO	1	EFO	mammary gland cell line	HCC38
EFO:0002885	EFO:0001180	\N	"" []	EFO:0001180	"" []	205191	\N	\N	EFO	1	EFO	breast cancer cell line	HCC38
EFO:0002888	EFO:0001180	\N	"" []	EFO:0001180	"" []	205192	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC38
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001180	"" []	558299	\N	\N	EFO	2	EFO	cell line	HCC38
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001180	"" []	558300	\N	\N	EFO	2	EFO	cell line	HCC38
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001180	"" []	558301	\N	\N	EFO	2	EFO	cancer cell line	HCC38
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001180	"" []	558302	\N	\N	EFO	2	EFO	cell line	HCC38
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001180	"" []	2023544	\N	\N	EFO	4	EFO	material entity	HCC38
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001180	"" []	1140563	\N	\N	EFO	3	EFO	cell line	HCC38
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001180	"" []	2999278	\N	\N	EFO	5	EFO	experimental factor	HCC38
EFO:0001181	\N	\N	"" []	EFO:0001181	"" []	64614	\N	\N	EFO	0	EFO	HCC70	HCC70
EFO:0001641	EFO:0001181	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001181	"" []	205193	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC70
EFO:0002884	EFO:0001181	\N	"" []	EFO:0001181	"" []	205194	\N	\N	EFO	1	EFO	mammary gland cell line	HCC70
EFO:0002885	EFO:0001181	\N	"" []	EFO:0001181	"" []	205195	\N	\N	EFO	1	EFO	breast cancer cell line	HCC70
EFO:0002888	EFO:0001181	\N	"" []	EFO:0001181	"" []	205196	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC70
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001181	"" []	558303	\N	\N	EFO	2	EFO	cell line	HCC70
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001181	"" []	558304	\N	\N	EFO	2	EFO	cell line	HCC70
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001181	"" []	558305	\N	\N	EFO	2	EFO	cancer cell line	HCC70
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001181	"" []	558306	\N	\N	EFO	2	EFO	cell line	HCC70
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001181	"" []	2023546	\N	\N	EFO	4	EFO	material entity	HCC70
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001181	"" []	1140565	\N	\N	EFO	3	EFO	cell line	HCC70
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001181	"" []	2999279	\N	\N	EFO	5	EFO	experimental factor	HCC70
EFO:0001182	\N	\N	"" []	EFO:0001182	"" []	64615	\N	\N	EFO	0	EFO	HEK293	HEK293
EFO:0001641	EFO:0001182	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001182	"" []	205197	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HEK293
EFO:0001643	EFO:0001182	\N	"" []	EFO:0001182	"" []	205198	\N	\N	EFO	1	EFO	kidney derived cell line	HEK293
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001182	"" []	558307	\N	\N	EFO	2	EFO	cell line	HEK293
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001182	"" []	558308	\N	\N	EFO	2	EFO	cell line	HEK293
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001182	"" []	1140566	\N	\N	EFO	3	EFO	material entity	HEK293
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001182	"" []	2023547	\N	\N	EFO	4	EFO	experimental factor	HEK293
EFO:0001183	\N	\N	"" []	EFO:0001183	"" []	64616	\N	\N	EFO	0	EFO	HEK-293H	HEK-293H
EFO:0001641	EFO:0001183	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001183	"" []	205199	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HEK-293H
EFO:0001643	EFO:0001183	\N	"" []	EFO:0001183	"" []	205200	\N	\N	EFO	1	EFO	kidney derived cell line	HEK-293H
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001183	"" []	558309	\N	\N	EFO	2	EFO	cell line	HEK-293H
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001183	"" []	558310	\N	\N	EFO	2	EFO	cell line	HEK-293H
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001183	"" []	1140567	\N	\N	EFO	3	EFO	material entity	HEK-293H
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001183	"" []	2023548	\N	\N	EFO	4	EFO	experimental factor	HEK-293H
EFO:0001184	\N	\N	"" []	EFO:0001184	"" []	64617	\N	\N	EFO	0	EFO	HEK293T	HEK293T
EFO:0001641	EFO:0001184	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001184	"" []	205201	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HEK293T
EFO:0001643	EFO:0001184	\N	"" []	EFO:0001184	"" []	205202	\N	\N	EFO	1	EFO	kidney derived cell line	HEK293T
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001184	"" []	558311	\N	\N	EFO	2	EFO	cell line	HEK293T
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001184	"" []	558312	\N	\N	EFO	2	EFO	cell line	HEK293T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001184	"" []	1140568	\N	\N	EFO	3	EFO	material entity	HEK293T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001184	"" []	2023549	\N	\N	EFO	4	EFO	experimental factor	HEK293T
EFO:0001185	\N	\N	"A HeLa is a cell line.\\nA HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from \\na Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix." []	EFO:0001185	"A HeLa is a cell line.\\nA HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from \\na Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix." []	64618	\N	\N	EFO	0	EFO	HeLa	HeLa
BTO:0001967	\N	\N	"" []	EFO:0001185	"A HeLa is a cell line.\\nA HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from \\na Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix." []	194447	\N	\N	EFO	0	EFO	cervical cancer cell line	HeLa
EFO:0001641	EFO:0001185	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001185	"A HeLa is a cell line.\\nA HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from \\na Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix." []	205203	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HeLa
EFO:0002888	EFO:0001185	\N	"" []	EFO:0001185	"A HeLa is a cell line.\\nA HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from \\na Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix." []	205204	\N	\N	EFO	1	EFO	Homo sapiens cell line	HeLa
EFO:0005218	EFO:0001185	\N	"A cell line which is used as a model for cervical carcinoma." []	EFO:0001185	"A HeLa is a cell line.\\nA HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from \\na Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix." []	205205	\N	\N	EFO	1	EFO	cervical carcinoma cell line	HeLa
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001185	"A HeLa is a cell line.\\nA HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from \\na Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix." []	558313	\N	\N	EFO	2	EFO	cell line	HeLa
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001185	"A HeLa is a cell line.\\nA HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from \\na Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix." []	558314	\N	\N	EFO	2	EFO	cell line	HeLa
EFO:0001639	EFO:0005218	\N	"" []	EFO:0001185	"A HeLa is a cell line.\\nA HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from \\na Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix." []	558315	\N	\N	EFO	2	EFO	cancer cell line	HeLa
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001185	"A HeLa is a cell line.\\nA HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from \\na Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix." []	2023551	\N	\N	EFO	4	EFO	material entity	HeLa
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001185	"A HeLa is a cell line.\\nA HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from \\na Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix." []	1140570	\N	\N	EFO	3	EFO	cell line	HeLa
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001185	"A HeLa is a cell line.\\nA HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from \\na Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix." []	2999280	\N	\N	EFO	5	EFO	experimental factor	HeLa
EFO:0001186	\N	\N	"" []	EFO:0001186	"" []	64619	\N	\N	EFO	0	EFO	HepaRG	HepaRG
EFO:0005216	EFO:0001186	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0001186	"" []	205206	\N	\N	EFO	1	EFO	hepatoma cell line	HepaRG
EFO:0001639	EFO:0005216	\N	"" []	EFO:0001186	"" []	558316	\N	\N	EFO	2	EFO	cancer cell line	HepaRG
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001186	"" []	1140571	\N	\N	EFO	3	EFO	cell line	HepaRG
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001186	"" []	2023552	\N	\N	EFO	4	EFO	material entity	HepaRG
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001186	"" []	3177327	\N	\N	EFO	5	EFO	experimental factor	HepaRG
EFO:0001187	\N	\N	"" []	EFO:0001187	"" []	64620	\N	\N	EFO	0	EFO	HepG2	HepG2
EFO:0001641	EFO:0001187	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001187	"" []	205207	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HepG2
EFO:0002888	EFO:0001187	\N	"" []	EFO:0001187	"" []	205208	\N	\N	EFO	1	EFO	Homo sapiens cell line	HepG2
EFO:0002926	EFO:0001187	\N	"" []	EFO:0001187	"" []	205209	\N	\N	EFO	1	EFO	ENCODE cell line	HepG2
EFO:0005216	EFO:0001187	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0001187	"" []	205210	\N	\N	EFO	1	EFO	hepatoma cell line	HepG2
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001187	"" []	558317	\N	\N	EFO	2	EFO	cell line	HepG2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001187	"" []	558318	\N	\N	EFO	2	EFO	cell line	HepG2
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001187	"" []	558319	\N	\N	EFO	2	EFO	cell line	HepG2
EFO:0001639	EFO:0005216	\N	"" []	EFO:0001187	"" []	558320	\N	\N	EFO	2	EFO	cancer cell line	HepG2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001187	"" []	2023554	\N	\N	EFO	4	EFO	material entity	HepG2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001187	"" []	1140573	\N	\N	EFO	3	EFO	cell line	HepG2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001187	"" []	2999281	\N	\N	EFO	5	EFO	experimental factor	HepG2
EFO:0001188	\N	\N	"" []	EFO:0001188	"" []	64621	\N	\N	EFO	0	EFO	HMEC	HMEC
EFO:0001641	EFO:0001188	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001188	"" []	205211	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HMEC
EFO:0002884	EFO:0001188	\N	"" []	EFO:0001188	"" []	205212	\N	\N	EFO	1	EFO	mammary gland cell line	HMEC
EFO:0002888	EFO:0001188	\N	"" []	EFO:0001188	"" []	205213	\N	\N	EFO	1	EFO	Homo sapiens cell line	HMEC
EFO:0002926	EFO:0001188	\N	"" []	EFO:0001188	"" []	205214	\N	\N	EFO	1	EFO	ENCODE cell line	HMEC
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001188	"" []	558321	\N	\N	EFO	2	EFO	cell line	HMEC
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001188	"" []	558322	\N	\N	EFO	2	EFO	cell line	HMEC
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001188	"" []	558323	\N	\N	EFO	2	EFO	cell line	HMEC
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001188	"" []	558324	\N	\N	EFO	2	EFO	cell line	HMEC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001188	"" []	1140574	\N	\N	EFO	3	EFO	material entity	HMEC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001188	"" []	2023555	\N	\N	EFO	4	EFO	experimental factor	HMEC
EFO:0001189	\N	\N	"" []	EFO:0001189	"" []	64622	\N	\N	EFO	0	EFO	HMEC S1	HMEC S1
EFO:0001641	EFO:0001189	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001189	"" []	205215	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HMEC S1
EFO:0002884	EFO:0001189	\N	"" []	EFO:0001189	"" []	205216	\N	\N	EFO	1	EFO	mammary gland cell line	HMEC S1
EFO:0002885	EFO:0001189	\N	"" []	EFO:0001189	"" []	205217	\N	\N	EFO	1	EFO	breast cancer cell line	HMEC S1
EFO:0002888	EFO:0001189	\N	"" []	EFO:0001189	"" []	205218	\N	\N	EFO	1	EFO	Homo sapiens cell line	HMEC S1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001189	"" []	558325	\N	\N	EFO	2	EFO	cell line	HMEC S1
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001189	"" []	558326	\N	\N	EFO	2	EFO	cell line	HMEC S1
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001189	"" []	558327	\N	\N	EFO	2	EFO	cancer cell line	HMEC S1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001189	"" []	558328	\N	\N	EFO	2	EFO	cell line	HMEC S1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001189	"" []	2023557	\N	\N	EFO	4	EFO	material entity	HMEC S1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001189	"" []	1140576	\N	\N	EFO	3	EFO	cell line	HMEC S1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001189	"" []	2999282	\N	\N	EFO	5	EFO	experimental factor	HMEC S1
EFO:0001190	\N	\N	"" []	EFO:0001190	"" []	64623	\N	\N	EFO	0	EFO	HMEC184	HMEC184
EFO:0001641	EFO:0001190	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001190	"" []	205219	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HMEC184
EFO:0002884	EFO:0001190	\N	"" []	EFO:0001190	"" []	205220	\N	\N	EFO	1	EFO	mammary gland cell line	HMEC184
EFO:0002885	EFO:0001190	\N	"" []	EFO:0001190	"" []	205221	\N	\N	EFO	1	EFO	breast cancer cell line	HMEC184
EFO:0002888	EFO:0001190	\N	"" []	EFO:0001190	"" []	205222	\N	\N	EFO	1	EFO	Homo sapiens cell line	HMEC184
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001190	"" []	558329	\N	\N	EFO	2	EFO	cell line	HMEC184
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001190	"" []	558330	\N	\N	EFO	2	EFO	cell line	HMEC184
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001190	"" []	558331	\N	\N	EFO	2	EFO	cancer cell line	HMEC184
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001190	"" []	558332	\N	\N	EFO	2	EFO	cell line	HMEC184
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001190	"" []	2023559	\N	\N	EFO	4	EFO	material entity	HMEC184
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001190	"" []	1140578	\N	\N	EFO	3	EFO	cell line	HMEC184
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001190	"" []	2999283	\N	\N	EFO	5	EFO	experimental factor	HMEC184
EFO:0001191	\N	\N	"" []	EFO:0001191	"" []	64624	\N	\N	EFO	0	EFO	HMT3522S1	HMT3522S1
EFO:0001641	EFO:0001191	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001191	"" []	205223	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HMT3522S1
EFO:0002885	EFO:0001191	\N	"" []	EFO:0001191	"" []	205224	\N	\N	EFO	1	EFO	breast cancer cell line	HMT3522S1
EFO:0002888	EFO:0001191	\N	"" []	EFO:0001191	"" []	205225	\N	\N	EFO	1	EFO	Homo sapiens cell line	HMT3522S1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001191	"" []	558333	\N	\N	EFO	2	EFO	cell line	HMT3522S1
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001191	"" []	558334	\N	\N	EFO	2	EFO	cancer cell line	HMT3522S1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001191	"" []	558335	\N	\N	EFO	2	EFO	cell line	HMT3522S1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001191	"" []	2023561	\N	\N	EFO	4	EFO	material entity	HMT3522S1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001191	"" []	1140580	\N	\N	EFO	3	EFO	cell line	HMT3522S1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001191	"" []	2999284	\N	\N	EFO	5	EFO	experimental factor	HMT3522S1
EFO:0001192	\N	\N	"" []	EFO:0001192	"" []	64625	\N	\N	EFO	0	EFO	HS578T	HS578T
EFO:0001641	EFO:0001192	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001192	"" []	205226	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HS578T
EFO:0002884	EFO:0001192	\N	"" []	EFO:0001192	"" []	205227	\N	\N	EFO	1	EFO	mammary gland cell line	HS578T
EFO:0002885	EFO:0001192	\N	"" []	EFO:0001192	"" []	205228	\N	\N	EFO	1	EFO	breast cancer cell line	HS578T
EFO:0002888	EFO:0001192	\N	"" []	EFO:0001192	"" []	205229	\N	\N	EFO	1	EFO	Homo sapiens cell line	HS578T
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001192	"" []	558336	\N	\N	EFO	2	EFO	cell line	HS578T
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001192	"" []	558337	\N	\N	EFO	2	EFO	cell line	HS578T
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001192	"" []	558338	\N	\N	EFO	2	EFO	cancer cell line	HS578T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001192	"" []	558339	\N	\N	EFO	2	EFO	cell line	HS578T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001192	"" []	2023563	\N	\N	EFO	4	EFO	material entity	HS578T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001192	"" []	1140582	\N	\N	EFO	3	EFO	cell line	HS578T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001192	"" []	2999285	\N	\N	EFO	5	EFO	experimental factor	HS578T
EFO:0001193	\N	\N	"" []	EFO:0001193	"" []	64626	\N	\N	EFO	0	EFO	HT-29	HT-29
BTO:0000797	\N	\N	"" []	EFO:0001193	"" []	194448	\N	\N	EFO	0	EFO	colonic cancer cell line	HT-29
BTO:0003250	\N	\N	"" []	EFO:0001193	"" []	194449	\N	\N	EFO	0	EFO	colonic epithelium cell line	HT-29
EFO:0001639	EFO:0001193	\N	"" []	EFO:0001193	"" []	205230	\N	\N	EFO	1	EFO	cancer cell line	HT-29
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001193	"" []	558340	\N	\N	EFO	2	EFO	cell line	HT-29
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001193	"" []	1140583	\N	\N	EFO	3	EFO	material entity	HT-29
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001193	"" []	2023564	\N	\N	EFO	4	EFO	experimental factor	HT-29
EFO:0001194	\N	\N	"" []	EFO:0001194	"" []	64627	\N	\N	EFO	0	EFO	IB3-1	IB3-1
EFO:0001641	EFO:0001194	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001194	"" []	205231	\N	\N	EFO	1	EFO	epithelial cell derived cell line	IB3-1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001194	"" []	558341	\N	\N	EFO	2	EFO	cell line	IB3-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001194	"" []	1140584	\N	\N	EFO	3	EFO	material entity	IB3-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001194	"" []	2023565	\N	\N	EFO	4	EFO	experimental factor	IB3-1
EFO:0001195	\N	\N	"An IMR 32 is a cell line.\\nAn IMR 32 is both something that is bearer of a neuroblastoma, and something that derives from a \\nneuroblast sensu vertebrata." []	EFO:0001195	"An IMR 32 is a cell line.\\nAn IMR 32 is both something that is bearer of a neuroblastoma, and something that derives from a \\nneuroblast sensu vertebrata." []	64628	\N	\N	EFO	0	EFO	IMR-32	IMR-32
EFO:0002886	EFO:0001195	\N	"Cell lines derived from stem cells." []	EFO:0001195	"An IMR 32 is a cell line.\\nAn IMR 32 is both something that is bearer of a neuroblastoma, and something that derives from a \\nneuroblast sensu vertebrata." []	205232	\N	\N	EFO	1	EFO	stem cell derived cell line	IMR-32
EFO:0002888	EFO:0001195	\N	"" []	EFO:0001195	"An IMR 32 is a cell line.\\nAn IMR 32 is both something that is bearer of a neuroblastoma, and something that derives from a \\nneuroblast sensu vertebrata." []	205233	\N	\N	EFO	1	EFO	Homo sapiens cell line	IMR-32
EFO:0005214	EFO:0001195	\N	"A cell line which is a model for neuroblastoma." []	EFO:0001195	"An IMR 32 is a cell line.\\nAn IMR 32 is both something that is bearer of a neuroblastoma, and something that derives from a \\nneuroblast sensu vertebrata." []	205234	\N	\N	EFO	1	EFO	neuroblastoma cell line	IMR-32
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001195	"An IMR 32 is a cell line.\\nAn IMR 32 is both something that is bearer of a neuroblastoma, and something that derives from a \\nneuroblast sensu vertebrata." []	558342	\N	\N	EFO	2	EFO	cell line	IMR-32
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001195	"An IMR 32 is a cell line.\\nAn IMR 32 is both something that is bearer of a neuroblastoma, and something that derives from a \\nneuroblast sensu vertebrata." []	558343	\N	\N	EFO	2	EFO	cell line	IMR-32
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001195	"An IMR 32 is a cell line.\\nAn IMR 32 is both something that is bearer of a neuroblastoma, and something that derives from a \\nneuroblast sensu vertebrata." []	558344	\N	\N	EFO	2	EFO	cell line	IMR-32
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001195	"An IMR 32 is a cell line.\\nAn IMR 32 is both something that is bearer of a neuroblastoma, and something that derives from a \\nneuroblast sensu vertebrata." []	1140585	\N	\N	EFO	3	EFO	material entity	IMR-32
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001195	"An IMR 32 is a cell line.\\nAn IMR 32 is both something that is bearer of a neuroblastoma, and something that derives from a \\nneuroblast sensu vertebrata." []	2023566	\N	\N	EFO	4	EFO	experimental factor	IMR-32
EFO:0001196	\N	\N	"Human Fetal Lung Fibroblast cell line" []	EFO:0001196	"Human Fetal Lung Fibroblast cell line" []	64629	\N	\N	EFO	0	EFO	IMR-90	IMR-90
EFO:0002009	EFO:0001196	\N	"" []	EFO:0001196	"Human Fetal Lung Fibroblast cell line" []	205235	\N	\N	EFO	1	EFO	fibroblast derived cell line	IMR-90
EFO:0002888	EFO:0001196	\N	"" []	EFO:0001196	"Human Fetal Lung Fibroblast cell line" []	205236	\N	\N	EFO	1	EFO	Homo sapiens cell line	IMR-90
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001196	"Human Fetal Lung Fibroblast cell line" []	558345	\N	\N	EFO	2	EFO	cell line	IMR-90
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001196	"Human Fetal Lung Fibroblast cell line" []	558346	\N	\N	EFO	2	EFO	cell line	IMR-90
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001196	"Human Fetal Lung Fibroblast cell line" []	1140586	\N	\N	EFO	3	EFO	material entity	IMR-90
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001196	"Human Fetal Lung Fibroblast cell line" []	2023567	\N	\N	EFO	4	EFO	experimental factor	IMR-90
EFO:0001197	\N	\N	"" []	EFO:0001197	"" []	64630	\N	\N	EFO	0	EFO	Kin-S49	Kin-S49
EFO:0002937	EFO:0001197	\N	"" []	EFO:0001197	"" []	205237	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	Kin-S49
EFO:0001639	EFO:0002937	\N	"" []	EFO:0001197	"" []	558347	\N	\N	EFO	2	EFO	cancer cell line	Kin-S49
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001197	"" []	1140587	\N	\N	EFO	3	EFO	cell line	Kin-S49
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001197	"" []	2023568	\N	\N	EFO	4	EFO	material entity	Kin-S49
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001197	"" []	3177328	\N	\N	EFO	5	EFO	experimental factor	Kin-S49
EFO:0001198	\N	\N	"" []	EFO:0001198	"" []	64631	\N	\N	EFO	0	EFO	L3055	L3055
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0001198	"" []	194450	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	L3055
EFO:0001199	\N	\N	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	EFO:0001199	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	64632	\N	\N	EFO	0	EFO	LY2	LY2
EFO:0001641	EFO:0001199	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001199	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	205238	\N	\N	EFO	1	EFO	epithelial cell derived cell line	LY2
EFO:0002884	EFO:0001199	\N	"" []	EFO:0001199	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	205239	\N	\N	EFO	1	EFO	mammary gland cell line	LY2
EFO:0002885	EFO:0001199	\N	"" []	EFO:0001199	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	205240	\N	\N	EFO	1	EFO	breast cancer cell line	LY2
EFO:0002888	EFO:0001199	\N	"" []	EFO:0001199	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	205241	\N	\N	EFO	1	EFO	Homo sapiens cell line	LY2
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001199	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	558348	\N	\N	EFO	2	EFO	cell line	LY2
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001199	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	558349	\N	\N	EFO	2	EFO	cell line	LY2
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001199	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	558350	\N	\N	EFO	2	EFO	cancer cell line	LY2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001199	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	558351	\N	\N	EFO	2	EFO	cell line	LY2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001199	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	2023570	\N	\N	EFO	4	EFO	material entity	LY2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001199	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	1140589	\N	\N	EFO	3	EFO	cell line	LY2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001199	"A LY2 is a cell line.\\nA LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an \\nepithelial cell, and something that derives from a mammary gland." []	2999286	\N	\N	EFO	5	EFO	experimental factor	LY2
EFO:0001200	\N	\N	"" []	EFO:0001200	"" []	64633	\N	\N	EFO	0	EFO	MCF 10A	MCF 10A
EFO:0001641	EFO:0001200	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001200	"" []	205242	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MCF 10A
EFO:0002884	EFO:0001200	\N	"" []	EFO:0001200	"" []	205243	\N	\N	EFO	1	EFO	mammary gland cell line	MCF 10A
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001200	"" []	558352	\N	\N	EFO	2	EFO	cell line	MCF 10A
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001200	"" []	558353	\N	\N	EFO	2	EFO	cell line	MCF 10A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001200	"" []	1140590	\N	\N	EFO	3	EFO	material entity	MCF 10A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001200	"" []	2023571	\N	\N	EFO	4	EFO	experimental factor	MCF 10A
EFO:0001202	\N	\N	"" []	EFO:0001202	"" []	64634	\N	\N	EFO	0	EFO	MCF12A	MCF12A
EFO:0001641	EFO:0001202	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001202	"" []	205244	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MCF12A
EFO:0002884	EFO:0001202	\N	"" []	EFO:0001202	"" []	205245	\N	\N	EFO	1	EFO	mammary gland cell line	MCF12A
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001202	"" []	558354	\N	\N	EFO	2	EFO	cell line	MCF12A
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001202	"" []	558355	\N	\N	EFO	2	EFO	cell line	MCF12A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001202	"" []	1140591	\N	\N	EFO	3	EFO	material entity	MCF12A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001202	"" []	2023572	\N	\N	EFO	4	EFO	experimental factor	MCF12A
EFO:0001203	\N	\N	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	64635	\N	\N	EFO	0	EFO	MCF-7	MCF-7
EFO:0001641	EFO:0001203	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	205246	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MCF-7
EFO:0002884	EFO:0001203	\N	"" []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	205247	\N	\N	EFO	1	EFO	mammary gland cell line	MCF-7
EFO:0002888	EFO:0001203	\N	"" []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	205248	\N	\N	EFO	1	EFO	Homo sapiens cell line	MCF-7
EFO:0002926	EFO:0001203	\N	"" []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	205249	\N	\N	EFO	1	EFO	ENCODE cell line	MCF-7
EFO:0005215	EFO:0001203	\N	"A cell line which is a model for breast adenocarcinoma." []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	205250	\N	\N	EFO	1	EFO	breast adenocarcinoma cell line	MCF-7
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	558356	\N	\N	EFO	2	EFO	cell line	MCF-7
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	558357	\N	\N	EFO	2	EFO	cell line	MCF-7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	558358	\N	\N	EFO	2	EFO	cell line	MCF-7
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	558359	\N	\N	EFO	2	EFO	cell line	MCF-7
EFO:0002885	EFO:0005215	\N	"" []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	558360	\N	\N	EFO	2	EFO	breast cancer cell line	MCF-7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	3177329	\N	\N	EFO	5	EFO	material entity	MCF-7
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	1140593	\N	\N	EFO	3	EFO	cancer cell line	MCF-7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	4066678	\N	\N	EFO	6	EFO	experimental factor	MCF-7
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001203	"Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes." []	2023574	\N	\N	EFO	4	EFO	cell line	MCF-7
EFO:0001205	\N	\N	"" []	EFO:0001205	"" []	64636	\N	\N	EFO	0	EFO	MDAMB134VI	MDAMB134VI
EFO:0001641	EFO:0001205	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001205	"" []	205251	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MDAMB134VI
EFO:0002884	EFO:0001205	\N	"" []	EFO:0001205	"" []	205252	\N	\N	EFO	1	EFO	mammary gland cell line	MDAMB134VI
EFO:0002885	EFO:0001205	\N	"" []	EFO:0001205	"" []	205253	\N	\N	EFO	1	EFO	breast cancer cell line	MDAMB134VI
EFO:0002888	EFO:0001205	\N	"" []	EFO:0001205	"" []	205254	\N	\N	EFO	1	EFO	Homo sapiens cell line	MDAMB134VI
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001205	"" []	558361	\N	\N	EFO	2	EFO	cell line	MDAMB134VI
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001205	"" []	558362	\N	\N	EFO	2	EFO	cell line	MDAMB134VI
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001205	"" []	558363	\N	\N	EFO	2	EFO	cancer cell line	MDAMB134VI
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001205	"" []	558364	\N	\N	EFO	2	EFO	cell line	MDAMB134VI
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001205	"" []	2023576	\N	\N	EFO	4	EFO	material entity	MDAMB134VI
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001205	"" []	1140595	\N	\N	EFO	3	EFO	cell line	MDAMB134VI
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001205	"" []	2999287	\N	\N	EFO	5	EFO	experimental factor	MDAMB134VI
EFO:0001206	\N	\N	"" []	EFO:0001206	"" []	64637	\N	\N	EFO	0	EFO	MDAMB157	MDAMB157
EFO:0001641	EFO:0001206	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001206	"" []	205255	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MDAMB157
EFO:0002884	EFO:0001206	\N	"" []	EFO:0001206	"" []	205256	\N	\N	EFO	1	EFO	mammary gland cell line	MDAMB157
EFO:0002885	EFO:0001206	\N	"" []	EFO:0001206	"" []	205257	\N	\N	EFO	1	EFO	breast cancer cell line	MDAMB157
EFO:0002888	EFO:0001206	\N	"" []	EFO:0001206	"" []	205258	\N	\N	EFO	1	EFO	Homo sapiens cell line	MDAMB157
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001206	"" []	558365	\N	\N	EFO	2	EFO	cell line	MDAMB157
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001206	"" []	558366	\N	\N	EFO	2	EFO	cell line	MDAMB157
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001206	"" []	558367	\N	\N	EFO	2	EFO	cancer cell line	MDAMB157
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001206	"" []	558368	\N	\N	EFO	2	EFO	cell line	MDAMB157
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001206	"" []	2023578	\N	\N	EFO	4	EFO	material entity	MDAMB157
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001206	"" []	1140597	\N	\N	EFO	3	EFO	cell line	MDAMB157
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001206	"" []	2999288	\N	\N	EFO	5	EFO	experimental factor	MDAMB157
EFO:0001208	\N	\N	"" []	EFO:0001208	"" []	64638	\N	\N	EFO	0	EFO	MDAMB175VII	MDAMB175VII
EFO:0001641	EFO:0001208	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001208	"" []	205259	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MDAMB175VII
EFO:0002884	EFO:0001208	\N	"" []	EFO:0001208	"" []	205260	\N	\N	EFO	1	EFO	mammary gland cell line	MDAMB175VII
EFO:0002885	EFO:0001208	\N	"" []	EFO:0001208	"" []	205261	\N	\N	EFO	1	EFO	breast cancer cell line	MDAMB175VII
EFO:0002888	EFO:0001208	\N	"" []	EFO:0001208	"" []	205262	\N	\N	EFO	1	EFO	Homo sapiens cell line	MDAMB175VII
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001208	"" []	558369	\N	\N	EFO	2	EFO	cell line	MDAMB175VII
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001208	"" []	558370	\N	\N	EFO	2	EFO	cell line	MDAMB175VII
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001208	"" []	558371	\N	\N	EFO	2	EFO	cancer cell line	MDAMB175VII
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001208	"" []	558372	\N	\N	EFO	2	EFO	cell line	MDAMB175VII
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001208	"" []	2023580	\N	\N	EFO	4	EFO	material entity	MDAMB175VII
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001208	"" []	1140599	\N	\N	EFO	3	EFO	cell line	MDAMB175VII
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001208	"" []	2999289	\N	\N	EFO	5	EFO	experimental factor	MDAMB175VII
EFO:0001209	\N	\N	"" []	EFO:0001209	"" []	64639	\N	\N	EFO	0	EFO	MDAMB231	MDAMB231
EFO:0001641	EFO:0001209	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001209	"" []	205263	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MDAMB231
EFO:0002884	EFO:0001209	\N	"" []	EFO:0001209	"" []	205264	\N	\N	EFO	1	EFO	mammary gland cell line	MDAMB231
EFO:0002885	EFO:0001209	\N	"" []	EFO:0001209	"" []	205265	\N	\N	EFO	1	EFO	breast cancer cell line	MDAMB231
EFO:0002888	EFO:0001209	\N	"" []	EFO:0001209	"" []	205266	\N	\N	EFO	1	EFO	Homo sapiens cell line	MDAMB231
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001209	"" []	558373	\N	\N	EFO	2	EFO	cell line	MDAMB231
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001209	"" []	558374	\N	\N	EFO	2	EFO	cell line	MDAMB231
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001209	"" []	558375	\N	\N	EFO	2	EFO	cancer cell line	MDAMB231
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001209	"" []	558376	\N	\N	EFO	2	EFO	cell line	MDAMB231
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001209	"" []	2023582	\N	\N	EFO	4	EFO	material entity	MDAMB231
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001209	"" []	1140601	\N	\N	EFO	3	EFO	cell line	MDAMB231
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001209	"" []	2999290	\N	\N	EFO	5	EFO	experimental factor	MDAMB231
EFO:0001211	\N	\N	"" []	EFO:0001211	"" []	64640	\N	\N	EFO	0	EFO	MDAMB361	MDAMB361
EFO:0001641	EFO:0001211	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001211	"" []	205267	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MDAMB361
EFO:0002884	EFO:0001211	\N	"" []	EFO:0001211	"" []	205268	\N	\N	EFO	1	EFO	mammary gland cell line	MDAMB361
EFO:0002885	EFO:0001211	\N	"" []	EFO:0001211	"" []	205269	\N	\N	EFO	1	EFO	breast cancer cell line	MDAMB361
EFO:0002888	EFO:0001211	\N	"" []	EFO:0001211	"" []	205270	\N	\N	EFO	1	EFO	Homo sapiens cell line	MDAMB361
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001211	"" []	558377	\N	\N	EFO	2	EFO	cell line	MDAMB361
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001211	"" []	558378	\N	\N	EFO	2	EFO	cell line	MDAMB361
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001211	"" []	558379	\N	\N	EFO	2	EFO	cancer cell line	MDAMB361
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001211	"" []	558380	\N	\N	EFO	2	EFO	cell line	MDAMB361
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001211	"" []	2023584	\N	\N	EFO	4	EFO	material entity	MDAMB361
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001211	"" []	1140603	\N	\N	EFO	3	EFO	cell line	MDAMB361
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001211	"" []	2999291	\N	\N	EFO	5	EFO	experimental factor	MDAMB361
EFO:0001212	\N	\N	"" []	EFO:0001212	"" []	64641	\N	\N	EFO	0	EFO	MDAMB415	MDAMB415
EFO:0001641	EFO:0001212	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001212	"" []	205271	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MDAMB415
EFO:0002884	EFO:0001212	\N	"" []	EFO:0001212	"" []	205272	\N	\N	EFO	1	EFO	mammary gland cell line	MDAMB415
EFO:0002885	EFO:0001212	\N	"" []	EFO:0001212	"" []	205273	\N	\N	EFO	1	EFO	breast cancer cell line	MDAMB415
EFO:0002888	EFO:0001212	\N	"" []	EFO:0001212	"" []	205274	\N	\N	EFO	1	EFO	Homo sapiens cell line	MDAMB415
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001212	"" []	558381	\N	\N	EFO	2	EFO	cell line	MDAMB415
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001212	"" []	558382	\N	\N	EFO	2	EFO	cell line	MDAMB415
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001212	"" []	558383	\N	\N	EFO	2	EFO	cancer cell line	MDAMB415
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001212	"" []	558384	\N	\N	EFO	2	EFO	cell line	MDAMB415
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001212	"" []	2023586	\N	\N	EFO	4	EFO	material entity	MDAMB415
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001212	"" []	1140605	\N	\N	EFO	3	EFO	cell line	MDAMB415
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001212	"" []	2999292	\N	\N	EFO	5	EFO	experimental factor	MDAMB415
EFO:0001213	\N	\N	"" []	EFO:0001213	"" []	64642	\N	\N	EFO	0	EFO	MDAMB435	MDAMB435
BTO:0000849	EFO:0001213	\N	"" []	EFO:0001213	"" []	205275	\N	\N	EFO	1	EFO	melanoma cell line	MDAMB435
EFO:0001641	EFO:0001213	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001213	"" []	205276	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MDAMB435
EFO:0001639	BTO:0000849	\N	"" []	EFO:0001213	"" []	558385	\N	\N	EFO	2	EFO	cancer cell line	MDAMB435
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001213	"" []	558386	\N	\N	EFO	2	EFO	cell line	MDAMB435
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001213	"" []	1140606	\N	\N	EFO	3	EFO	cell line	MDAMB435
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001213	"" []	2023587	\N	\N	EFO	4	EFO	material entity	MDAMB435
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001213	"" []	2999293	\N	\N	EFO	5	EFO	experimental factor	MDAMB435
EFO:0001214	\N	\N	"" []	EFO:0001214	"" []	64643	\N	\N	EFO	0	EFO	MDAMB436	MDAMB436
EFO:0001641	EFO:0001214	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001214	"" []	205277	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MDAMB436
EFO:0002884	EFO:0001214	\N	"" []	EFO:0001214	"" []	205278	\N	\N	EFO	1	EFO	mammary gland cell line	MDAMB436
EFO:0002885	EFO:0001214	\N	"" []	EFO:0001214	"" []	205279	\N	\N	EFO	1	EFO	breast cancer cell line	MDAMB436
EFO:0002888	EFO:0001214	\N	"" []	EFO:0001214	"" []	205280	\N	\N	EFO	1	EFO	Homo sapiens cell line	MDAMB436
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001214	"" []	558387	\N	\N	EFO	2	EFO	cell line	MDAMB436
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001214	"" []	558388	\N	\N	EFO	2	EFO	cell line	MDAMB436
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001214	"" []	558389	\N	\N	EFO	2	EFO	cancer cell line	MDAMB436
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001214	"" []	558390	\N	\N	EFO	2	EFO	cell line	MDAMB436
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001214	"" []	2023590	\N	\N	EFO	4	EFO	material entity	MDAMB436
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001214	"" []	1140609	\N	\N	EFO	3	EFO	cell line	MDAMB436
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001214	"" []	2999294	\N	\N	EFO	5	EFO	experimental factor	MDAMB436
EFO:0001215	\N	\N	"" []	EFO:0001215	"" []	64644	\N	\N	EFO	0	EFO	MDAMB453	MDAMB453
EFO:0001641	EFO:0001215	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001215	"" []	205281	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MDAMB453
EFO:0002884	EFO:0001215	\N	"" []	EFO:0001215	"" []	205282	\N	\N	EFO	1	EFO	mammary gland cell line	MDAMB453
EFO:0002885	EFO:0001215	\N	"" []	EFO:0001215	"" []	205283	\N	\N	EFO	1	EFO	breast cancer cell line	MDAMB453
EFO:0002888	EFO:0001215	\N	"" []	EFO:0001215	"" []	205284	\N	\N	EFO	1	EFO	Homo sapiens cell line	MDAMB453
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001215	"" []	558391	\N	\N	EFO	2	EFO	cell line	MDAMB453
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001215	"" []	558392	\N	\N	EFO	2	EFO	cell line	MDAMB453
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001215	"" []	558393	\N	\N	EFO	2	EFO	cancer cell line	MDAMB453
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001215	"" []	558394	\N	\N	EFO	2	EFO	cell line	MDAMB453
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001215	"" []	2023592	\N	\N	EFO	4	EFO	material entity	MDAMB453
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001215	"" []	1140611	\N	\N	EFO	3	EFO	cell line	MDAMB453
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001215	"" []	2999295	\N	\N	EFO	5	EFO	experimental factor	MDAMB453
EFO:0001216	\N	\N	"" []	EFO:0001216	"" []	64645	\N	\N	EFO	0	EFO	MDAMB468	MDAMB468
EFO:0001641	EFO:0001216	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001216	"" []	205285	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MDAMB468
EFO:0002884	EFO:0001216	\N	"" []	EFO:0001216	"" []	205286	\N	\N	EFO	1	EFO	mammary gland cell line	MDAMB468
EFO:0002885	EFO:0001216	\N	"" []	EFO:0001216	"" []	205287	\N	\N	EFO	1	EFO	breast cancer cell line	MDAMB468
EFO:0002888	EFO:0001216	\N	"" []	EFO:0001216	"" []	205288	\N	\N	EFO	1	EFO	Homo sapiens cell line	MDAMB468
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001216	"" []	558395	\N	\N	EFO	2	EFO	cell line	MDAMB468
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001216	"" []	558396	\N	\N	EFO	2	EFO	cell line	MDAMB468
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001216	"" []	558397	\N	\N	EFO	2	EFO	cancer cell line	MDAMB468
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001216	"" []	558398	\N	\N	EFO	2	EFO	cell line	MDAMB468
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001216	"" []	2023594	\N	\N	EFO	4	EFO	material entity	MDAMB468
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001216	"" []	1140613	\N	\N	EFO	3	EFO	cell line	MDAMB468
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001216	"" []	2999296	\N	\N	EFO	5	EFO	experimental factor	MDAMB468
EFO:0001218	\N	\N	"" []	EFO:0001218	"" []	64646	\N	\N	EFO	0	EFO	Met5A	Met5A
EFO:0001641	EFO:0001218	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001218	"" []	205289	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Met5A
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001218	"" []	558399	\N	\N	EFO	2	EFO	cell line	Met5A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001218	"" []	1140614	\N	\N	EFO	3	EFO	material entity	Met5A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001218	"" []	2023595	\N	\N	EFO	4	EFO	experimental factor	Met5A
EFO:0001219	\N	\N	"" []	EFO:0001219	"" []	64647	\N	\N	EFO	0	EFO	MM1	MM1
EFO:0001639	EFO:0001219	\N	"" []	EFO:0001219	"" []	205290	\N	\N	EFO	1	EFO	cancer cell line	MM1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001219	"" []	558400	\N	\N	EFO	2	EFO	cell line	MM1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001219	"" []	1140615	\N	\N	EFO	3	EFO	material entity	MM1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001219	"" []	2023596	\N	\N	EFO	4	EFO	experimental factor	MM1
EFO:0001220	\N	\N	"" []	EFO:0001220	"" []	64648	\N	\N	EFO	0	EFO	MOLT-4	MOLT-4
EFO:0001639	EFO:0001220	\N	"" []	EFO:0001220	"" []	205291	\N	\N	EFO	1	EFO	cancer cell line	MOLT-4
EFO:0002888	EFO:0001220	\N	"" []	EFO:0001220	"" []	205292	\N	\N	EFO	1	EFO	Homo sapiens cell line	MOLT-4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001220	"" []	558401	\N	\N	EFO	2	EFO	cell line	MOLT-4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001220	"" []	558402	\N	\N	EFO	2	EFO	cell line	MOLT-4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001220	"" []	1140616	\N	\N	EFO	3	EFO	material entity	MOLT-4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001220	"" []	2023597	\N	\N	EFO	4	EFO	experimental factor	MOLT-4
EFO:0001221	\N	\N	"A NCI H929 is a cell line.\\nA NCI H929 is all of the following: something that is bearer of a multiple myeloma, something that derives \\nfrom a B cell, and something that derives from a bone marrow." []	EFO:0001221	"A NCI H929 is a cell line.\\nA NCI H929 is all of the following: something that is bearer of a multiple myeloma, something that derives \\nfrom a B cell, and something that derives from a bone marrow." []	64649	\N	\N	EFO	0	EFO	NCI-H929	NCI-H929
EFO:0001639	EFO:0001221	\N	"" []	EFO:0001221	"A NCI H929 is a cell line.\\nA NCI H929 is all of the following: something that is bearer of a multiple myeloma, something that derives \\nfrom a B cell, and something that derives from a bone marrow." []	205293	\N	\N	EFO	1	EFO	cancer cell line	NCI-H929
EFO:0001640	EFO:0001221	\N	"" []	EFO:0001221	"A NCI H929 is a cell line.\\nA NCI H929 is all of the following: something that is bearer of a multiple myeloma, something that derives \\nfrom a B cell, and something that derives from a bone marrow." []	205294	\N	\N	EFO	1	EFO	B cell derived cell line	NCI-H929
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001221	"A NCI H929 is a cell line.\\nA NCI H929 is all of the following: something that is bearer of a multiple myeloma, something that derives \\nfrom a B cell, and something that derives from a bone marrow." []	558403	\N	\N	EFO	2	EFO	cell line	NCI-H929
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001221	"A NCI H929 is a cell line.\\nA NCI H929 is all of the following: something that is bearer of a multiple myeloma, something that derives \\nfrom a B cell, and something that derives from a bone marrow." []	558404	\N	\N	EFO	2	EFO	cell line	NCI-H929
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001221	"A NCI H929 is a cell line.\\nA NCI H929 is all of the following: something that is bearer of a multiple myeloma, something that derives \\nfrom a B cell, and something that derives from a bone marrow." []	1140617	\N	\N	EFO	3	EFO	material entity	NCI-H929
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001221	"A NCI H929 is a cell line.\\nA NCI H929 is all of the following: something that is bearer of a multiple myeloma, something that derives \\nfrom a B cell, and something that derives from a bone marrow." []	2023598	\N	\N	EFO	4	EFO	experimental factor	NCI-H929
EFO:0001222	\N	\N	"" []	EFO:0001222	"" []	64650	\N	\N	EFO	0	EFO	NIH3T3	NIH3T3
EFO:0002009	EFO:0001222	\N	"" []	EFO:0001222	"" []	205295	\N	\N	EFO	1	EFO	fibroblast derived cell line	NIH3T3
EFO:0002887	EFO:0001222	\N	"Cell lines derived from mice." []	EFO:0001222	"" []	205296	\N	\N	EFO	1	EFO	mouse cell line	NIH3T3
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001222	"" []	558405	\N	\N	EFO	2	EFO	cell line	NIH3T3
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001222	"" []	558406	\N	\N	EFO	2	EFO	cell line	NIH3T3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001222	"" []	1140618	\N	\N	EFO	3	EFO	material entity	NIH3T3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001222	"" []	2023599	\N	\N	EFO	4	EFO	experimental factor	NIH3T3
EFO:0001223	\N	\N	"" []	EFO:0001223	"" []	64651	\N	\N	EFO	0	EFO	NIH3T3-L1	NIH3T3-L1
EFO:0002009	EFO:0001223	\N	"" []	EFO:0001223	"" []	205297	\N	\N	EFO	1	EFO	fibroblast derived cell line	NIH3T3-L1
EFO:0002887	EFO:0001223	\N	"Cell lines derived from mice." []	EFO:0001223	"" []	205298	\N	\N	EFO	1	EFO	mouse cell line	NIH3T3-L1
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001223	"" []	558407	\N	\N	EFO	2	EFO	cell line	NIH3T3-L1
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001223	"" []	558408	\N	\N	EFO	2	EFO	cell line	NIH3T3-L1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001223	"" []	1140619	\N	\N	EFO	3	EFO	material entity	NIH3T3-L1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001223	"" []	2023600	\N	\N	EFO	4	EFO	experimental factor	NIH3T3-L1
EFO:0001224	\N	\N	"" []	EFO:0001224	"" []	64652	\N	\N	EFO	0	EFO	PAC2	PAC2
EFO:0002009	EFO:0001224	\N	"" []	EFO:0001224	"" []	205299	\N	\N	EFO	1	EFO	fibroblast derived cell line	PAC2
EFO:0002940	EFO:0001224	\N	"" []	EFO:0001224	"" []	205300	\N	\N	EFO	1	EFO	zebrafish cell line	PAC2
EFO:0003040	EFO:0001224	\N	"" []	EFO:0001224	"" []	205301	\N	\N	EFO	1	EFO	embryonic cell line	PAC2
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001224	"" []	558409	\N	\N	EFO	2	EFO	cell line	PAC2
EFO:0000322	EFO:0002940	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001224	"" []	558410	\N	\N	EFO	2	EFO	cell line	PAC2
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001224	"" []	558411	\N	\N	EFO	2	EFO	cell line	PAC2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001224	"" []	1140620	\N	\N	EFO	3	EFO	material entity	PAC2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001224	"" []	2023601	\N	\N	EFO	4	EFO	experimental factor	PAC2
EFO:0001225	\N	\N	"" []	EFO:0001225	"" []	64653	\N	\N	EFO	0	EFO	PC12	PC12
EFO:0002936	EFO:0001225	\N	"Cell lines derived from rats." []	EFO:0001225	"" []	205302	\N	\N	EFO	1	EFO	rat cell line	PC12
EFO:0000322	EFO:0002936	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001225	"" []	558412	\N	\N	EFO	2	EFO	cell line	PC12
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001225	"" []	1140621	\N	\N	EFO	3	EFO	material entity	PC12
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001225	"" []	2023602	\N	\N	EFO	4	EFO	experimental factor	PC12
EFO:0001226	\N	\N	"" []	EFO:0001226	"" []	64654	\N	\N	EFO	0	EFO	R18	R18
EFO:0001639	EFO:0001226	\N	"" []	EFO:0001226	"" []	205303	\N	\N	EFO	1	EFO	cancer cell line	R18
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001226	"" []	558413	\N	\N	EFO	2	EFO	cell line	R18
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001226	"" []	1140622	\N	\N	EFO	3	EFO	material entity	R18
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001226	"" []	2023603	\N	\N	EFO	4	EFO	experimental factor	R18
EFO:0001227	\N	\N	"" []	EFO:0001227	"" []	64655	\N	\N	EFO	0	EFO	R28	R28
EFO:0001639	EFO:0001227	\N	"" []	EFO:0001227	"" []	205304	\N	\N	EFO	1	EFO	cancer cell line	R28
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001227	"" []	558414	\N	\N	EFO	2	EFO	cell line	R28
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001227	"" []	1140623	\N	\N	EFO	3	EFO	material entity	R28
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001227	"" []	2023604	\N	\N	EFO	4	EFO	experimental factor	R28
EFO:0001228	\N	\N	"" []	EFO:0001228	"" []	64656	\N	\N	EFO	0	EFO	R43	R43
EFO:0001639	EFO:0001228	\N	"" []	EFO:0001228	"" []	205305	\N	\N	EFO	1	EFO	cancer cell line	R43
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001228	"" []	558415	\N	\N	EFO	2	EFO	cell line	R43
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001228	"" []	1140624	\N	\N	EFO	3	EFO	material entity	R43
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001228	"" []	2023605	\N	\N	EFO	4	EFO	experimental factor	R43
EFO:0001229	\N	\N	"" []	EFO:0001229	"" []	64657	\N	\N	EFO	0	EFO	R46	R46
EFO:0001639	EFO:0001229	\N	"" []	EFO:0001229	"" []	205306	\N	\N	EFO	1	EFO	cancer cell line	R46
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001229	"" []	558416	\N	\N	EFO	2	EFO	cell line	R46
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001229	"" []	1140625	\N	\N	EFO	3	EFO	material entity	R46
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001229	"" []	2023606	\N	\N	EFO	4	EFO	experimental factor	R46
EFO:0001230	\N	\N	"" []	EFO:0001230	"" []	64658	\N	\N	EFO	0	EFO	R8	R8
EFO:0001639	EFO:0001230	\N	"" []	EFO:0001230	"" []	205307	\N	\N	EFO	1	EFO	cancer cell line	R8
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001230	"" []	558417	\N	\N	EFO	2	EFO	cell line	R8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001230	"" []	1140626	\N	\N	EFO	3	EFO	material entity	R8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001230	"" []	2023607	\N	\N	EFO	4	EFO	experimental factor	R8
EFO:0001231	\N	\N	"" []	EFO:0001231	"" []	64659	\N	\N	EFO	0	EFO	RAW264.7	RAW264.7
BTO:0002278	\N	\N	"" []	EFO:0001231	"" []	194451	\N	\N	EFO	0	EFO	macrophage cell line	RAW264.7
EFO:0002887	EFO:0001231	\N	"Cell lines derived from mice." []	EFO:0001231	"" []	205308	\N	\N	EFO	1	EFO	mouse cell line	RAW264.7
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001231	"" []	558418	\N	\N	EFO	2	EFO	cell line	RAW264.7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001231	"" []	1140627	\N	\N	EFO	3	EFO	material entity	RAW264.7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001231	"" []	2023608	\N	\N	EFO	4	EFO	experimental factor	RAW264.7
EFO:0001232	\N	\N	"" []	EFO:0001232	"" []	64660	\N	\N	EFO	0	EFO	RKO	RKO
BTO:0000797	\N	\N	"" []	EFO:0001232	"" []	194452	\N	\N	EFO	0	EFO	colonic cancer cell line	RKO
BTO:0003250	\N	\N	"" []	EFO:0001232	"" []	194453	\N	\N	EFO	0	EFO	colonic epithelium cell line	RKO
EFO:0001639	EFO:0001232	\N	"" []	EFO:0001232	"" []	205309	\N	\N	EFO	1	EFO	cancer cell line	RKO
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001232	"" []	558419	\N	\N	EFO	2	EFO	cell line	RKO
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001232	"" []	1140628	\N	\N	EFO	3	EFO	material entity	RKO
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001232	"" []	2023609	\N	\N	EFO	4	EFO	experimental factor	RKO
EFO:0001233	\N	\N	"Insect - fruitfly (Drosophila melanogaster) cell line, established from the late embryo of a Drosophila melanogaster (fruitfly) in 1972; originally the cells were diploid with 5-10% XY, currently the cell line has only XX cells that are now 60-80% tetraploid." []	EFO:0001233	"Insect - fruitfly (Drosophila melanogaster) cell line, established from the late embryo of a Drosophila melanogaster (fruitfly) in 1972; originally the cells were diploid with 5-10% XY, currently the cell line has only XX cells that are now 60-80% tetraploid." []	64661	\N	\N	EFO	0	EFO	S2	S2
EFO:0002935	EFO:0001233	\N	"" []	EFO:0001233	"Insect - fruitfly (Drosophila melanogaster) cell line, established from the late embryo of a Drosophila melanogaster (fruitfly) in 1972; originally the cells were diploid with 5-10% XY, currently the cell line has only XX cells that are now 60-80% tetraploid." []	205310	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	S2
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001233	"Insect - fruitfly (Drosophila melanogaster) cell line, established from the late embryo of a Drosophila melanogaster (fruitfly) in 1972; originally the cells were diploid with 5-10% XY, currently the cell line has only XX cells that are now 60-80% tetraploid." []	558420	\N	\N	EFO	2	EFO	cell line	S2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001233	"Insect - fruitfly (Drosophila melanogaster) cell line, established from the late embryo of a Drosophila melanogaster (fruitfly) in 1972; originally the cells were diploid with 5-10% XY, currently the cell line has only XX cells that are now 60-80% tetraploid." []	1140629	\N	\N	EFO	3	EFO	material entity	S2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001233	"Insect - fruitfly (Drosophila melanogaster) cell line, established from the late embryo of a Drosophila melanogaster (fruitfly) in 1972; originally the cells were diploid with 5-10% XY, currently the cell line has only XX cells that are now 60-80% tetraploid." []	2023610	\N	\N	EFO	4	EFO	experimental factor	S2
EFO:0001234	\N	\N	"" []	EFO:0001234	"" []	64662	\N	\N	EFO	0	EFO	S49	S49
EFO:0002887	EFO:0001234	\N	"Cell lines derived from mice." []	EFO:0001234	"" []	205311	\N	\N	EFO	1	EFO	mouse cell line	S49
EFO:0002937	EFO:0001234	\N	"" []	EFO:0001234	"" []	205312	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	S49
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001234	"" []	558421	\N	\N	EFO	2	EFO	cell line	S49
EFO:0001639	EFO:0002937	\N	"" []	EFO:0001234	"" []	558422	\N	\N	EFO	2	EFO	cancer cell line	S49
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001234	"" []	2023612	\N	\N	EFO	4	EFO	material entity	S49
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001234	"" []	1140631	\N	\N	EFO	3	EFO	cell line	S49
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001234	"" []	2999297	\N	\N	EFO	5	EFO	experimental factor	S49
EFO:0001236	\N	\N	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	EFO:0001236	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	64663	\N	\N	EFO	0	EFO	SKBR3	SKBR3
EFO:0001641	EFO:0001236	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001236	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	205313	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SKBR3
EFO:0002884	EFO:0001236	\N	"" []	EFO:0001236	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	205314	\N	\N	EFO	1	EFO	mammary gland cell line	SKBR3
EFO:0002885	EFO:0001236	\N	"" []	EFO:0001236	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	205315	\N	\N	EFO	1	EFO	breast cancer cell line	SKBR3
EFO:0002888	EFO:0001236	\N	"" []	EFO:0001236	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	205316	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKBR3
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001236	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	558423	\N	\N	EFO	2	EFO	cell line	SKBR3
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001236	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	558424	\N	\N	EFO	2	EFO	cell line	SKBR3
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001236	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	558425	\N	\N	EFO	2	EFO	cancer cell line	SKBR3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001236	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	558426	\N	\N	EFO	2	EFO	cell line	SKBR3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001236	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	2023614	\N	\N	EFO	4	EFO	material entity	SKBR3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001236	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	1140633	\N	\N	EFO	3	EFO	cell line	SKBR3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001236	"A SKBR3 is a cell line.\\nA SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from \\nan epithelial cell, and something that derives from a mammary gland." []	2999298	\N	\N	EFO	5	EFO	experimental factor	SKBR3
EFO:0001237	\N	\N	"" []	EFO:0001237	"" []	64664	\N	\N	EFO	0	EFO	SKGT4	SKGT4
EFO:0001639	EFO:0001237	\N	"" []	EFO:0001237	"" []	205317	\N	\N	EFO	1	EFO	cancer cell line	SKGT4
EFO:0001641	EFO:0001237	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001237	"" []	205318	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SKGT4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001237	"" []	558427	\N	\N	EFO	2	EFO	cell line	SKGT4
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001237	"" []	558428	\N	\N	EFO	2	EFO	cell line	SKGT4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001237	"" []	1140634	\N	\N	EFO	3	EFO	material entity	SKGT4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001237	"" []	2023615	\N	\N	EFO	4	EFO	experimental factor	SKGT4
EFO:0001239	\N	\N	"" []	EFO:0001239	"" []	64665	\N	\N	EFO	0	EFO	SUM1315MO2	SUM1315MO2
EFO:0001641	EFO:0001239	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001239	"" []	205319	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SUM1315MO2
EFO:0002884	EFO:0001239	\N	"" []	EFO:0001239	"" []	205320	\N	\N	EFO	1	EFO	mammary gland cell line	SUM1315MO2
EFO:0002885	EFO:0001239	\N	"" []	EFO:0001239	"" []	205321	\N	\N	EFO	1	EFO	breast cancer cell line	SUM1315MO2
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001239	"" []	558429	\N	\N	EFO	2	EFO	cell line	SUM1315MO2
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001239	"" []	558430	\N	\N	EFO	2	EFO	cell line	SUM1315MO2
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001239	"" []	558431	\N	\N	EFO	2	EFO	cancer cell line	SUM1315MO2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001239	"" []	2023617	\N	\N	EFO	4	EFO	material entity	SUM1315MO2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001239	"" []	1140636	\N	\N	EFO	3	EFO	cell line	SUM1315MO2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001239	"" []	2999299	\N	\N	EFO	5	EFO	experimental factor	SUM1315MO2
EFO:0001240	\N	\N	"" []	EFO:0001240	"" []	64666	\N	\N	EFO	0	EFO	SUM149PT	SUM149PT
EFO:0001641	EFO:0001240	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001240	"" []	205322	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SUM149PT
EFO:0002884	EFO:0001240	\N	"" []	EFO:0001240	"" []	205323	\N	\N	EFO	1	EFO	mammary gland cell line	SUM149PT
EFO:0002885	EFO:0001240	\N	"" []	EFO:0001240	"" []	205324	\N	\N	EFO	1	EFO	breast cancer cell line	SUM149PT
EFO:0002888	EFO:0001240	\N	"" []	EFO:0001240	"" []	205325	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUM149PT
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001240	"" []	558432	\N	\N	EFO	2	EFO	cell line	SUM149PT
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001240	"" []	558433	\N	\N	EFO	2	EFO	cell line	SUM149PT
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001240	"" []	558434	\N	\N	EFO	2	EFO	cancer cell line	SUM149PT
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001240	"" []	558435	\N	\N	EFO	2	EFO	cell line	SUM149PT
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001240	"" []	2023619	\N	\N	EFO	4	EFO	material entity	SUM149PT
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001240	"" []	1140638	\N	\N	EFO	3	EFO	cell line	SUM149PT
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001240	"" []	2999300	\N	\N	EFO	5	EFO	experimental factor	SUM149PT
EFO:0001241	\N	\N	"" []	EFO:0001241	"" []	64667	\N	\N	EFO	0	EFO	SUM159PT	SUM159PT
EFO:0001641	EFO:0001241	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001241	"" []	205326	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SUM159PT
EFO:0002884	EFO:0001241	\N	"" []	EFO:0001241	"" []	205327	\N	\N	EFO	1	EFO	mammary gland cell line	SUM159PT
EFO:0002885	EFO:0001241	\N	"" []	EFO:0001241	"" []	205328	\N	\N	EFO	1	EFO	breast cancer cell line	SUM159PT
EFO:0002888	EFO:0001241	\N	"" []	EFO:0001241	"" []	205329	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUM159PT
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001241	"" []	558436	\N	\N	EFO	2	EFO	cell line	SUM159PT
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001241	"" []	558437	\N	\N	EFO	2	EFO	cell line	SUM159PT
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001241	"" []	558438	\N	\N	EFO	2	EFO	cancer cell line	SUM159PT
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001241	"" []	558439	\N	\N	EFO	2	EFO	cell line	SUM159PT
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001241	"" []	2023621	\N	\N	EFO	4	EFO	material entity	SUM159PT
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001241	"" []	1140640	\N	\N	EFO	3	EFO	cell line	SUM159PT
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001241	"" []	2999301	\N	\N	EFO	5	EFO	experimental factor	SUM159PT
EFO:0001242	\N	\N	"" []	EFO:0001242	"" []	64668	\N	\N	EFO	0	EFO	SUM185PE	SUM185PE
EFO:0001641	EFO:0001242	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001242	"" []	205330	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SUM185PE
EFO:0002884	EFO:0001242	\N	"" []	EFO:0001242	"" []	205331	\N	\N	EFO	1	EFO	mammary gland cell line	SUM185PE
EFO:0002885	EFO:0001242	\N	"" []	EFO:0001242	"" []	205332	\N	\N	EFO	1	EFO	breast cancer cell line	SUM185PE
EFO:0002888	EFO:0001242	\N	"" []	EFO:0001242	"" []	205333	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUM185PE
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001242	"" []	558440	\N	\N	EFO	2	EFO	cell line	SUM185PE
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001242	"" []	558441	\N	\N	EFO	2	EFO	cell line	SUM185PE
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001242	"" []	558442	\N	\N	EFO	2	EFO	cancer cell line	SUM185PE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001242	"" []	558443	\N	\N	EFO	2	EFO	cell line	SUM185PE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001242	"" []	2023623	\N	\N	EFO	4	EFO	material entity	SUM185PE
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001242	"" []	1140642	\N	\N	EFO	3	EFO	cell line	SUM185PE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001242	"" []	2999302	\N	\N	EFO	5	EFO	experimental factor	SUM185PE
EFO:0001243	\N	\N	"" []	EFO:0001243	"" []	64669	\N	\N	EFO	0	EFO	SUM190PT	SUM190PT
EFO:0001641	EFO:0001243	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001243	"" []	205334	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SUM190PT
EFO:0002884	EFO:0001243	\N	"" []	EFO:0001243	"" []	205335	\N	\N	EFO	1	EFO	mammary gland cell line	SUM190PT
EFO:0002885	EFO:0001243	\N	"" []	EFO:0001243	"" []	205336	\N	\N	EFO	1	EFO	breast cancer cell line	SUM190PT
EFO:0002888	EFO:0001243	\N	"" []	EFO:0001243	"" []	205337	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUM190PT
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001243	"" []	558444	\N	\N	EFO	2	EFO	cell line	SUM190PT
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001243	"" []	558445	\N	\N	EFO	2	EFO	cell line	SUM190PT
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001243	"" []	558446	\N	\N	EFO	2	EFO	cancer cell line	SUM190PT
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001243	"" []	558447	\N	\N	EFO	2	EFO	cell line	SUM190PT
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001243	"" []	2023625	\N	\N	EFO	4	EFO	material entity	SUM190PT
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001243	"" []	1140644	\N	\N	EFO	3	EFO	cell line	SUM190PT
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001243	"" []	2999303	\N	\N	EFO	5	EFO	experimental factor	SUM190PT
EFO:0001244	\N	\N	"" []	EFO:0001244	"" []	64670	\N	\N	EFO	0	EFO	SUM225CWN	SUM225CWN
EFO:0001641	EFO:0001244	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001244	"" []	205338	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SUM225CWN
EFO:0002884	EFO:0001244	\N	"" []	EFO:0001244	"" []	205339	\N	\N	EFO	1	EFO	mammary gland cell line	SUM225CWN
EFO:0002885	EFO:0001244	\N	"" []	EFO:0001244	"" []	205340	\N	\N	EFO	1	EFO	breast cancer cell line	SUM225CWN
EFO:0002888	EFO:0001244	\N	"" []	EFO:0001244	"" []	205341	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUM225CWN
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001244	"" []	558448	\N	\N	EFO	2	EFO	cell line	SUM225CWN
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001244	"" []	558449	\N	\N	EFO	2	EFO	cell line	SUM225CWN
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001244	"" []	558450	\N	\N	EFO	2	EFO	cancer cell line	SUM225CWN
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001244	"" []	558451	\N	\N	EFO	2	EFO	cell line	SUM225CWN
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001244	"" []	2023627	\N	\N	EFO	4	EFO	material entity	SUM225CWN
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001244	"" []	1140646	\N	\N	EFO	3	EFO	cell line	SUM225CWN
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001244	"" []	2999304	\N	\N	EFO	5	EFO	experimental factor	SUM225CWN
EFO:0001245	\N	\N	"" []	EFO:0001245	"" []	64671	\N	\N	EFO	0	EFO	SUM44PE	SUM44PE
EFO:0001641	EFO:0001245	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001245	"" []	205342	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SUM44PE
EFO:0002884	EFO:0001245	\N	"" []	EFO:0001245	"" []	205343	\N	\N	EFO	1	EFO	mammary gland cell line	SUM44PE
EFO:0002885	EFO:0001245	\N	"" []	EFO:0001245	"" []	205344	\N	\N	EFO	1	EFO	breast cancer cell line	SUM44PE
EFO:0002888	EFO:0001245	\N	"" []	EFO:0001245	"" []	205345	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUM44PE
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001245	"" []	558452	\N	\N	EFO	2	EFO	cell line	SUM44PE
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001245	"" []	558453	\N	\N	EFO	2	EFO	cell line	SUM44PE
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001245	"" []	558454	\N	\N	EFO	2	EFO	cancer cell line	SUM44PE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001245	"" []	558455	\N	\N	EFO	2	EFO	cell line	SUM44PE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001245	"" []	2023629	\N	\N	EFO	4	EFO	material entity	SUM44PE
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001245	"" []	1140648	\N	\N	EFO	3	EFO	cell line	SUM44PE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001245	"" []	2999305	\N	\N	EFO	5	EFO	experimental factor	SUM44PE
EFO:0001246	\N	\N	"" []	EFO:0001246	"" []	64672	\N	\N	EFO	0	EFO	SUM52PE	SUM52PE
EFO:0001641	EFO:0001246	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001246	"" []	205346	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SUM52PE
EFO:0002884	EFO:0001246	\N	"" []	EFO:0001246	"" []	205347	\N	\N	EFO	1	EFO	mammary gland cell line	SUM52PE
EFO:0002885	EFO:0001246	\N	"" []	EFO:0001246	"" []	205348	\N	\N	EFO	1	EFO	breast cancer cell line	SUM52PE
EFO:0002888	EFO:0001246	\N	"" []	EFO:0001246	"" []	205349	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUM52PE
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001246	"" []	558456	\N	\N	EFO	2	EFO	cell line	SUM52PE
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001246	"" []	558457	\N	\N	EFO	2	EFO	cell line	SUM52PE
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001246	"" []	558458	\N	\N	EFO	2	EFO	cancer cell line	SUM52PE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001246	"" []	558459	\N	\N	EFO	2	EFO	cell line	SUM52PE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001246	"" []	2023631	\N	\N	EFO	4	EFO	material entity	SUM52PE
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001246	"" []	1140650	\N	\N	EFO	3	EFO	cell line	SUM52PE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001246	"" []	2999306	\N	\N	EFO	5	EFO	experimental factor	SUM52PE
EFO:0001247	\N	\N	"" []	EFO:0001247	"" []	64673	\N	\N	EFO	0	EFO	T47D	T47D
EFO:0001641	EFO:0001247	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001247	"" []	205350	\N	\N	EFO	1	EFO	epithelial cell derived cell line	T47D
EFO:0002884	EFO:0001247	\N	"" []	EFO:0001247	"" []	205351	\N	\N	EFO	1	EFO	mammary gland cell line	T47D
EFO:0002885	EFO:0001247	\N	"" []	EFO:0001247	"" []	205352	\N	\N	EFO	1	EFO	breast cancer cell line	T47D
EFO:0002888	EFO:0001247	\N	"" []	EFO:0001247	"" []	205353	\N	\N	EFO	1	EFO	Homo sapiens cell line	T47D
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001247	"" []	558460	\N	\N	EFO	2	EFO	cell line	T47D
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001247	"" []	558461	\N	\N	EFO	2	EFO	cell line	T47D
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001247	"" []	558462	\N	\N	EFO	2	EFO	cancer cell line	T47D
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001247	"" []	558463	\N	\N	EFO	2	EFO	cell line	T47D
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001247	"" []	2023633	\N	\N	EFO	4	EFO	material entity	T47D
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001247	"" []	1140652	\N	\N	EFO	3	EFO	cell line	T47D
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001247	"" []	2999307	\N	\N	EFO	5	EFO	experimental factor	T47D
EFO:0001249	\N	\N	"A TERV is a cell line.\\nA TERV derives from a kidney." []	EFO:0001249	"A TERV is a cell line.\\nA TERV derives from a kidney." []	64674	\N	\N	EFO	0	EFO	TERV	TERV
EFO:0001643	EFO:0001249	\N	"" []	EFO:0001249	"A TERV is a cell line.\\nA TERV derives from a kidney." []	205354	\N	\N	EFO	1	EFO	kidney derived cell line	TERV
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001249	"A TERV is a cell line.\\nA TERV derives from a kidney." []	558464	\N	\N	EFO	2	EFO	cell line	TERV
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001249	"A TERV is a cell line.\\nA TERV derives from a kidney." []	1140653	\N	\N	EFO	3	EFO	material entity	TERV
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001249	"A TERV is a cell line.\\nA TERV derives from a kidney." []	2023634	\N	\N	EFO	4	EFO	experimental factor	TERV
EFO:0001250	\N	\N	"" []	EFO:0001250	"" []	64675	\N	\N	EFO	0	EFO	TERV-AntiSenseB56	TERV-AntiSenseB56
EFO:0001643	EFO:0001250	\N	"" []	EFO:0001250	"" []	205355	\N	\N	EFO	1	EFO	kidney derived cell line	TERV-AntiSenseB56
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001250	"" []	558465	\N	\N	EFO	2	EFO	cell line	TERV-AntiSenseB56
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001250	"" []	1140654	\N	\N	EFO	3	EFO	material entity	TERV-AntiSenseB56
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001250	"" []	2023635	\N	\N	EFO	4	EFO	experimental factor	TERV-AntiSenseB56
EFO:0001251	\N	\N	"" []	EFO:0001251	"" []	64676	\N	\N	EFO	0	EFO	TERV-ST	TERV-ST
EFO:0001643	EFO:0001251	\N	"" []	EFO:0001251	"" []	205356	\N	\N	EFO	1	EFO	kidney derived cell line	TERV-ST
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001251	"" []	558466	\N	\N	EFO	2	EFO	cell line	TERV-ST
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001251	"" []	1140655	\N	\N	EFO	3	EFO	material entity	TERV-ST
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001251	"" []	2023636	\N	\N	EFO	4	EFO	experimental factor	TERV-ST
EFO:0001252	\N	\N	"" []	EFO:0001252	"" []	64677	\N	\N	EFO	0	EFO	TERV-ST110	TERV-ST110
EFO:0001643	EFO:0001252	\N	"" []	EFO:0001252	"" []	205357	\N	\N	EFO	1	EFO	kidney derived cell line	TERV-ST110
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001252	"" []	558467	\N	\N	EFO	2	EFO	cell line	TERV-ST110
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001252	"" []	1140656	\N	\N	EFO	3	EFO	material entity	TERV-ST110
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001252	"" []	2023637	\N	\N	EFO	4	EFO	experimental factor	TERV-ST110
EFO:0001253	\N	\N	"" []	EFO:0001253	"" []	64678	\N	\N	EFO	0	EFO	THP-1	THP-1
EFO:0002888	EFO:0001253	\N	"" []	EFO:0001253	"" []	205358	\N	\N	EFO	1	EFO	Homo sapiens cell line	THP-1
EFO:0002937	EFO:0001253	\N	"" []	EFO:0001253	"" []	205359	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	THP-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001253	"" []	558468	\N	\N	EFO	2	EFO	cell line	THP-1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0001253	"" []	558469	\N	\N	EFO	2	EFO	cancer cell line	THP-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001253	"" []	2023639	\N	\N	EFO	4	EFO	material entity	THP-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001253	"" []	1140658	\N	\N	EFO	3	EFO	cell line	THP-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001253	"" []	2999308	\N	\N	EFO	5	EFO	experimental factor	THP-1
EFO:0001254	\N	\N	"" []	EFO:0001254	"" []	64679	\N	\N	EFO	0	EFO	U266	U266
EFO:0001639	EFO:0001254	\N	"" []	EFO:0001254	"" []	205360	\N	\N	EFO	1	EFO	cancer cell line	U266
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001254	"" []	558470	\N	\N	EFO	2	EFO	cell line	U266
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001254	"" []	1140659	\N	\N	EFO	3	EFO	material entity	U266
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001254	"" []	2023640	\N	\N	EFO	4	EFO	experimental factor	U266
EFO:0001255	\N	\N	"" []	EFO:0001255	"" []	64680	\N	\N	EFO	0	EFO	U373	U373
EFO:0001639	EFO:0001255	\N	"" []	EFO:0001255	"" []	205361	\N	\N	EFO	1	EFO	cancer cell line	U373
EFO:0001641	EFO:0001255	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001255	"" []	205362	\N	\N	EFO	1	EFO	epithelial cell derived cell line	U373
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001255	"" []	558471	\N	\N	EFO	2	EFO	cell line	U373
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001255	"" []	558472	\N	\N	EFO	2	EFO	cell line	U373
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001255	"" []	1140660	\N	\N	EFO	3	EFO	material entity	U373
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001255	"" []	2023641	\N	\N	EFO	4	EFO	experimental factor	U373
EFO:0001257	\N	\N	"" []	EFO:0001257	"" []	64681	\N	\N	EFO	0	EFO	U937	U937
EFO:0002888	EFO:0001257	\N	"" []	EFO:0001257	"" []	205363	\N	\N	EFO	1	EFO	Homo sapiens cell line	U937
EFO:0002937	EFO:0001257	\N	"" []	EFO:0001257	"" []	205364	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	U937
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001257	"" []	558473	\N	\N	EFO	2	EFO	cell line	U937
EFO:0001639	EFO:0002937	\N	"" []	EFO:0001257	"" []	558474	\N	\N	EFO	2	EFO	cancer cell line	U937
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001257	"" []	2023643	\N	\N	EFO	4	EFO	material entity	U937
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001257	"" []	1140662	\N	\N	EFO	3	EFO	cell line	U937
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001257	"" []	2999309	\N	\N	EFO	5	EFO	experimental factor	U937
EFO:0001258	\N	\N	"" []	EFO:0001258	"" []	64682	\N	\N	EFO	0	EFO	UACC812	UACC812
EFO:0001641	EFO:0001258	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001258	"" []	205365	\N	\N	EFO	1	EFO	epithelial cell derived cell line	UACC812
EFO:0002884	EFO:0001258	\N	"" []	EFO:0001258	"" []	205366	\N	\N	EFO	1	EFO	mammary gland cell line	UACC812
EFO:0002885	EFO:0001258	\N	"" []	EFO:0001258	"" []	205367	\N	\N	EFO	1	EFO	breast cancer cell line	UACC812
EFO:0002888	EFO:0001258	\N	"" []	EFO:0001258	"" []	205368	\N	\N	EFO	1	EFO	Homo sapiens cell line	UACC812
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001258	"" []	558475	\N	\N	EFO	2	EFO	cell line	UACC812
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001258	"" []	558476	\N	\N	EFO	2	EFO	cell line	UACC812
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001258	"" []	558477	\N	\N	EFO	2	EFO	cancer cell line	UACC812
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001258	"" []	558478	\N	\N	EFO	2	EFO	cell line	UACC812
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001258	"" []	2023645	\N	\N	EFO	4	EFO	material entity	UACC812
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001258	"" []	1140664	\N	\N	EFO	3	EFO	cell line	UACC812
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001258	"" []	2999310	\N	\N	EFO	5	EFO	experimental factor	UACC812
EFO:0001259	\N	\N	"" []	EFO:0001259	"" []	64683	\N	\N	EFO	0	EFO	UBOC1	UBOC1
EFO:0000322	EFO:0001259	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001259	"" []	205369	\N	\N	EFO	1	EFO	cell line	UBOC1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001259	"" []	558479	\N	\N	EFO	2	EFO	material entity	UBOC1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001259	"" []	1140665	\N	\N	EFO	3	EFO	experimental factor	UBOC1
EFO:0001260	\N	\N	"" []	EFO:0001260	"" []	64684	\N	\N	EFO	0	EFO	WI38	WI38
EFO:0002009	EFO:0001260	\N	"" []	EFO:0001260	"" []	205370	\N	\N	EFO	1	EFO	fibroblast derived cell line	WI38
EFO:0002888	EFO:0001260	\N	"" []	EFO:0001260	"" []	205371	\N	\N	EFO	1	EFO	Homo sapiens cell line	WI38
EFO:0002922	EFO:0001260	\N	"" []	EFO:0001260	"" []	205372	\N	\N	EFO	1	EFO	normal cell line	WI38
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001260	"" []	558480	\N	\N	EFO	2	EFO	cell line	WI38
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001260	"" []	558481	\N	\N	EFO	2	EFO	cell line	WI38
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001260	"" []	558482	\N	\N	EFO	2	EFO	cell line	WI38
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001260	"" []	1140666	\N	\N	EFO	3	EFO	material entity	WI38
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001260	"" []	2023646	\N	\N	EFO	4	EFO	experimental factor	WI38
EFO:0001261	\N	\N	"" []	EFO:0001261	"" []	64685	\N	\N	EFO	0	EFO	ZF4	ZF4
EFO:0002009	EFO:0001261	\N	"" []	EFO:0001261	"" []	205373	\N	\N	EFO	1	EFO	fibroblast derived cell line	ZF4
EFO:0002940	EFO:0001261	\N	"" []	EFO:0001261	"" []	205374	\N	\N	EFO	1	EFO	zebrafish cell line	ZF4
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001261	"" []	558483	\N	\N	EFO	2	EFO	cell line	ZF4
EFO:0000322	EFO:0002940	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001261	"" []	558484	\N	\N	EFO	2	EFO	cell line	ZF4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001261	"" []	1140667	\N	\N	EFO	3	EFO	material entity	ZF4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001261	"" []	2023647	\N	\N	EFO	4	EFO	experimental factor	ZF4
EFO:0001262	\N	\N	"" []	EFO:0001262	"" []	64686	\N	\N	EFO	0	EFO	ZR751	ZR751
EFO:0001641	EFO:0001262	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001262	"" []	205375	\N	\N	EFO	1	EFO	epithelial cell derived cell line	ZR751
EFO:0002884	EFO:0001262	\N	"" []	EFO:0001262	"" []	205376	\N	\N	EFO	1	EFO	mammary gland cell line	ZR751
EFO:0002885	EFO:0001262	\N	"" []	EFO:0001262	"" []	205377	\N	\N	EFO	1	EFO	breast cancer cell line	ZR751
EFO:0002888	EFO:0001262	\N	"" []	EFO:0001262	"" []	205378	\N	\N	EFO	1	EFO	Homo sapiens cell line	ZR751
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001262	"" []	558485	\N	\N	EFO	2	EFO	cell line	ZR751
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001262	"" []	558486	\N	\N	EFO	2	EFO	cell line	ZR751
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001262	"" []	558487	\N	\N	EFO	2	EFO	cancer cell line	ZR751
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001262	"" []	558488	\N	\N	EFO	2	EFO	cell line	ZR751
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001262	"" []	2023649	\N	\N	EFO	4	EFO	material entity	ZR751
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001262	"" []	1140669	\N	\N	EFO	3	EFO	cell line	ZR751
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001262	"" []	2999311	\N	\N	EFO	5	EFO	experimental factor	ZR751
EFO:0001263	\N	\N	"" []	EFO:0001263	"" []	64687	\N	\N	EFO	0	EFO	ZR7530	ZR7530
EFO:0001641	EFO:0001263	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001263	"" []	205379	\N	\N	EFO	1	EFO	epithelial cell derived cell line	ZR7530
EFO:0002884	EFO:0001263	\N	"" []	EFO:0001263	"" []	205380	\N	\N	EFO	1	EFO	mammary gland cell line	ZR7530
EFO:0002885	EFO:0001263	\N	"" []	EFO:0001263	"" []	205381	\N	\N	EFO	1	EFO	breast cancer cell line	ZR7530
EFO:0002888	EFO:0001263	\N	"" []	EFO:0001263	"" []	205382	\N	\N	EFO	1	EFO	Homo sapiens cell line	ZR7530
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001263	"" []	558489	\N	\N	EFO	2	EFO	cell line	ZR7530
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001263	"" []	558490	\N	\N	EFO	2	EFO	cell line	ZR7530
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001263	"" []	558491	\N	\N	EFO	2	EFO	cancer cell line	ZR7530
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001263	"" []	558492	\N	\N	EFO	2	EFO	cell line	ZR7530
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001263	"" []	2023651	\N	\N	EFO	4	EFO	material entity	ZR7530
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001263	"" []	1140671	\N	\N	EFO	3	EFO	cell line	ZR7530
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001263	"" []	2999312	\N	\N	EFO	5	EFO	experimental factor	ZR7530
EFO:0001264	\N	\N	"" []	EFO:0001264	"" []	64688	\N	\N	EFO	0	EFO	ZR75B	ZR75B
EFO:0001641	EFO:0001264	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001264	"" []	205383	\N	\N	EFO	1	EFO	epithelial cell derived cell line	ZR75B
EFO:0002884	EFO:0001264	\N	"" []	EFO:0001264	"" []	205384	\N	\N	EFO	1	EFO	mammary gland cell line	ZR75B
EFO:0002885	EFO:0001264	\N	"" []	EFO:0001264	"" []	205385	\N	\N	EFO	1	EFO	breast cancer cell line	ZR75B
EFO:0002888	EFO:0001264	\N	"" []	EFO:0001264	"" []	205386	\N	\N	EFO	1	EFO	Homo sapiens cell line	ZR75B
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001264	"" []	558493	\N	\N	EFO	2	EFO	cell line	ZR75B
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001264	"" []	558494	\N	\N	EFO	2	EFO	cell line	ZR75B
EFO:0001639	EFO:0002885	\N	"" []	EFO:0001264	"" []	558495	\N	\N	EFO	2	EFO	cancer cell line	ZR75B
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001264	"" []	558496	\N	\N	EFO	2	EFO	cell line	ZR75B
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001264	"" []	2023653	\N	\N	EFO	4	EFO	material entity	ZR75B
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001264	"" []	1140673	\N	\N	EFO	3	EFO	cell line	ZR75B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001264	"" []	2999313	\N	\N	EFO	5	EFO	experimental factor	ZR75B
EFO:0001268	\N	\N	"A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo." []	EFO:0001268	"A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo." []	64689	\N	\N	EFO	0	EFO	mating type	mating type
BFO:0000019	EFO:0001268	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001268	"A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo." []	205387	\N	\N	EFO	1	EFO	quality	mating type
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001268	"A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo." []	558497	\N	\N	EFO	2	EFO	material property	mating type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001268	"A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo." []	1140674	\N	\N	EFO	3	EFO	experimental factor	mating type
EFO:0001269	\N	\N	"A S. pombe mating type determined by the mat1-Mc and mat1-Mi on the mat1 locus." []	EFO:0001269	"A S. pombe mating type determined by the mat1-Mc and mat1-Mi on the mat1 locus." []	64690	\N	\N	EFO	0	EFO	mating type h minus	mating type h minus
EFO:0001268	EFO:0001269	\N	"A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo." []	EFO:0001269	"A S. pombe mating type determined by the mat1-Mc and mat1-Mi on the mat1 locus." []	205388	\N	\N	EFO	1	EFO	mating type	mating type h minus
BFO:0000019	EFO:0001268	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001269	"A S. pombe mating type determined by the mat1-Mc and mat1-Mi on the mat1 locus." []	558498	\N	\N	EFO	2	EFO	quality	mating type h minus
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001269	"A S. pombe mating type determined by the mat1-Mc and mat1-Mi on the mat1 locus." []	1140675	\N	\N	EFO	3	EFO	material property	mating type h minus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001269	"A S. pombe mating type determined by the mat1-Mc and mat1-Mi on the mat1 locus." []	2023654	\N	\N	EFO	4	EFO	experimental factor	mating type h minus
EFO:0001270	\N	\N	"A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids." []	EFO:0001270	"A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids." []	64691	\N	\N	EFO	0	EFO	mating type alpha	mating type alpha
EFO:0001268	EFO:0001270	\N	"A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo." []	EFO:0001270	"A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids." []	205389	\N	\N	EFO	1	EFO	mating type	mating type alpha
BFO:0000019	EFO:0001268	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001270	"A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids." []	558499	\N	\N	EFO	2	EFO	quality	mating type alpha
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001270	"A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids." []	1140676	\N	\N	EFO	3	EFO	material property	mating type alpha
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001270	"A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids." []	2023655	\N	\N	EFO	4	EFO	experimental factor	mating type alpha
EFO:0001271	\N	\N	"The total number of individuals inhabiting a particular region or area." []	EFO:0001271	"The total number of individuals inhabiting a particular region or area." []	64692	\N	\N	EFO	0	EFO	mixed sex population	mixed sex population
OBI:0000181	EFO:0001271	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0001271	"The total number of individuals inhabiting a particular region or area." []	205390	\N	\N	EFO	1	EFO	population	mixed sex population
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001271	"The total number of individuals inhabiting a particular region or area." []	558500	\N	\N	EFO	2	EFO	material entity	mixed sex population
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001271	"The total number of individuals inhabiting a particular region or area." []	1140677	\N	\N	EFO	3	EFO	experimental factor	mixed sex population
EFO:0001272	\N	\N	"A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth" []	EFO:0001272	"A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth" []	64693	\N	\N	EFO	0	EFO	adult	adult
EFO:0000399	EFO:0001272	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001272	"A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth" []	205391	\N	\N	EFO	1	EFO	developmental stage	adult
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001272	"A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth" []	558501	\N	\N	EFO	2	EFO	process	adult
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001272	"A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth" []	1140678	\N	\N	EFO	3	EFO	experimental factor	adult
EFO:0001273	\N	\N	"" []	EFO:0001273	"" []	64694	\N	\N	EFO	0	EFO	blastula 128-cell	blastula 128-cell
UBERON:0000108	\N	\N	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	EFO:0001273	"" []	194454	\N	efo_slim	EFO	0	EFO	blastula stage	blastula 128-cell
EFO:0001274	\N	\N	"" []	EFO:0001274	"" []	64695	\N	\N	EFO	0	EFO	blastula 1k-cell	blastula 1k-cell
UBERON:0000108	\N	\N	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	EFO:0001274	"" []	194455	\N	efo_slim	EFO	0	EFO	blastula stage	blastula 1k-cell
EFO:0001275	\N	\N	"A S. cerevisiae mating type cells that secrete a pheromone that in alpha haploids stimulates processes that lead to mating." []	EFO:0001275	"A S. cerevisiae mating type cells that secrete a pheromone that in alpha haploids stimulates processes that lead to mating." []	64696	\N	\N	EFO	0	EFO	mating type a	mating type a
EFO:0001268	EFO:0001275	\N	"A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo." []	EFO:0001275	"A S. cerevisiae mating type cells that secrete a pheromone that in alpha haploids stimulates processes that lead to mating." []	205392	\N	\N	EFO	1	EFO	mating type	mating type a
BFO:0000019	EFO:0001268	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001275	"A S. cerevisiae mating type cells that secrete a pheromone that in alpha haploids stimulates processes that lead to mating." []	558502	\N	\N	EFO	2	EFO	quality	mating type a
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001275	"A S. cerevisiae mating type cells that secrete a pheromone that in alpha haploids stimulates processes that lead to mating." []	1140679	\N	\N	EFO	3	EFO	material property	mating type a
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001275	"A S. cerevisiae mating type cells that secrete a pheromone that in alpha haploids stimulates processes that lead to mating." []	2023656	\N	\N	EFO	4	EFO	experimental factor	mating type a
EFO:0001276	\N	\N	"" []	EFO:0001276	"" []	64697	\N	\N	EFO	0	EFO	blastula 256-cell	blastula 256-cell
UBERON:0000108	\N	\N	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	EFO:0001276	"" []	194456	\N	efo_slim	EFO	0	EFO	blastula stage	blastula 256-cell
EFO:0001277	\N	\N	"" []	EFO:0001277	"" []	64698	\N	\N	EFO	0	EFO	blastula 30%-epiboly	blastula 30%-epiboly
UBERON:0000108	\N	\N	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	EFO:0001277	"" []	194457	\N	efo_slim	EFO	0	EFO	blastula stage	blastula 30%-epiboly
EFO:0001278	\N	\N	"" []	EFO:0001278	"" []	64699	\N	\N	EFO	0	EFO	blastula 512-cell	blastula 512-cell
UBERON:0000108	\N	\N	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	EFO:0001278	"" []	194458	\N	efo_slim	EFO	0	EFO	blastula stage	blastula 512-cell
EFO:0001279	\N	\N	"" []	EFO:0001279	"" []	64700	\N	\N	EFO	0	EFO	blastula dome	blastula dome
UBERON:0000108	\N	\N	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	EFO:0001279	"" []	194459	\N	efo_slim	EFO	0	EFO	blastula stage	blastula dome
EFO:0001280	\N	\N	"" []	EFO:0001280	"" []	64701	\N	\N	EFO	0	EFO	blastula high	blastula high
UBERON:0000108	\N	\N	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	EFO:0001280	"" []	194460	\N	efo_slim	EFO	0	EFO	blastula stage	blastula high
EFO:0001281	\N	\N	"" []	EFO:0001281	"" []	64702	\N	\N	EFO	0	EFO	blastula oblong	blastula oblong
UBERON:0000108	\N	\N	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	EFO:0001281	"" []	194461	\N	efo_slim	EFO	0	EFO	blastula stage	blastula oblong
EFO:0001283	\N	\N	"" []	EFO:0001283	"" []	64703	\N	\N	EFO	0	EFO	blastula sphere	blastula sphere
UBERON:0000108	\N	\N	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	EFO:0001283	"" []	194462	\N	efo_slim	EFO	0	EFO	blastula stage	blastula sphere
EFO:0001284	\N	\N	"" []	EFO:0001284	"" []	64704	\N	\N	EFO	0	EFO	cleavage 16-cell	cleavage 16-cell
UBERON:0000107	\N	\N	"The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula." [GO:0040016, Wikipedia:Cleavage_(embryo)]	EFO:0001284	"" []	194463	\N	efo_slim	EFO	0	EFO	cleavage stage	cleavage 16-cell
EFO:0001285	\N	\N	"" []	EFO:0001285	"" []	64705	\N	\N	EFO	0	EFO	cleavage 2-cell	cleavage 2-cell
UBERON:0000107	\N	\N	"The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula." [GO:0040016, Wikipedia:Cleavage_(embryo)]	EFO:0001285	"" []	194464	\N	efo_slim	EFO	0	EFO	cleavage stage	cleavage 2-cell
EFO:0001286	\N	\N	"" []	EFO:0001286	"" []	64706	\N	\N	EFO	0	EFO	cleavage 32-cell	cleavage 32-cell
UBERON:0000107	\N	\N	"The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula." [GO:0040016, Wikipedia:Cleavage_(embryo)]	EFO:0001286	"" []	194465	\N	efo_slim	EFO	0	EFO	cleavage stage	cleavage 32-cell
EFO:0001287	\N	\N	"" []	EFO:0001287	"" []	64707	\N	\N	EFO	0	EFO	cleavage 4-cell	cleavage 4-cell
UBERON:0000107	\N	\N	"The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula." [GO:0040016, Wikipedia:Cleavage_(embryo)]	EFO:0001287	"" []	194466	\N	efo_slim	EFO	0	EFO	cleavage stage	cleavage 4-cell
EFO:0001288	\N	\N	"" []	EFO:0001288	"" []	64708	\N	\N	EFO	0	EFO	cleavage 64-cell	cleavage 64-cell
UBERON:0000107	\N	\N	"The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula." [GO:0040016, Wikipedia:Cleavage_(embryo)]	EFO:0001288	"" []	194467	\N	efo_slim	EFO	0	EFO	cleavage stage	cleavage 64-cell
EFO:0001289	\N	\N	"" []	EFO:0001289	"" []	64709	\N	\N	EFO	0	EFO	cleavage 8-cell	cleavage 8-cell
UBERON:0000107	\N	\N	"The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula." [GO:0040016, Wikipedia:Cleavage_(embryo)]	EFO:0001289	"" []	194468	\N	efo_slim	EFO	0	EFO	cleavage stage	cleavage 8-cell
EFO:0001291	\N	\N	"" []	EFO:0001291	"" []	64710	\N	\N	EFO	0	EFO	gastrula 50%-epiboly	gastrula 50%-epiboly
UBERON:0000109	\N	\N	"A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." [GO:0007369]	EFO:0001291	"" []	194469	\N	efo_slim	EFO	0	EFO	gastrula stage	gastrula 50%-epiboly
EFO:0001292	\N	\N	"" []	EFO:0001292	"" []	64711	\N	\N	EFO	0	EFO	gastrula 75%-epiboly	gastrula 75%-epiboly
UBERON:0000109	\N	\N	"A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." [GO:0007369]	EFO:0001292	"" []	194470	\N	efo_slim	EFO	0	EFO	gastrula stage	gastrula 75%-epiboly
EFO:0001293	\N	\N	"" []	EFO:0001293	"" []	64712	\N	\N	EFO	0	EFO	gastrula 90%-epiboly	gastrula 90%-epiboly
UBERON:0000109	\N	\N	"A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." [GO:0007369]	EFO:0001293	"" []	194471	\N	efo_slim	EFO	0	EFO	gastrula stage	gastrula 90%-epiboly
EFO:0001294	\N	\N	"" []	EFO:0001294	"" []	64713	\N	\N	EFO	0	EFO	gastrula bud	gastrula bud
UBERON:0000109	\N	\N	"A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." [GO:0007369]	EFO:0001294	"" []	194472	\N	efo_slim	EFO	0	EFO	gastrula stage	gastrula bud
EFO:0001295	\N	\N	"" []	EFO:0001295	"" []	64714	\N	\N	EFO	0	EFO	gastrula germ-ring	gastrula germ-ring
UBERON:0000109	\N	\N	"A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." [GO:0007369]	EFO:0001295	"" []	194473	\N	efo_slim	EFO	0	EFO	gastrula stage	gastrula germ-ring
EFO:0001297	\N	\N	"" []	EFO:0001297	"" []	64715	\N	\N	EFO	0	EFO	gastrula shield	gastrula shield
UBERON:0000109	\N	\N	"A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." [GO:0007369]	EFO:0001297	"" []	194474	\N	efo_slim	EFO	0	EFO	gastrula stage	gastrula shield
EFO:0001298	\N	\N	"" []	EFO:0001298	"" []	64716	\N	\N	EFO	0	EFO	hatching stage	hatching stage
EFO:0000399	EFO:0001298	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001298	"" []	205393	\N	\N	EFO	1	EFO	developmental stage	hatching stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001298	"" []	558503	\N	\N	EFO	2	EFO	process	hatching stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001298	"" []	1140680	\N	\N	EFO	3	EFO	experimental factor	hatching stage
EFO:0001299	\N	\N	"" []	EFO:0001299	"" []	64717	\N	\N	EFO	0	EFO	hatching pec-fin	hatching pec-fin
EFO:0001298	EFO:0001299	\N	"" []	EFO:0001299	"" []	205394	\N	\N	EFO	1	EFO	hatching stage	hatching pec-fin
EFO:0000399	EFO:0001298	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001299	"" []	558504	\N	\N	EFO	2	EFO	developmental stage	hatching pec-fin
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001299	"" []	1140681	\N	\N	EFO	3	EFO	process	hatching pec-fin
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001299	"" []	2023657	\N	\N	EFO	4	EFO	experimental factor	hatching pec-fin
EFO:0001301	\N	\N	"" []	EFO:0001301	"" []	64718	\N	\N	EFO	0	EFO	juvenile days 30-44	juvenile days 30-44
UBERON:0000112	\N	\N	"" []	EFO:0001301	"" []	194475	\N	efo_slim	EFO	0	EFO	sexually immature stage	juvenile days 30-44
EFO:0001302	\N	\N	"" []	EFO:0001302	"" []	64719	\N	\N	EFO	0	EFO	juvenile days 45-89	juvenile days 45-89
UBERON:0000112	\N	\N	"" []	EFO:0001302	"" []	194476	\N	efo_slim	EFO	0	EFO	sexually immature stage	juvenile days 45-89
EFO:0001304	\N	\N	"" []	EFO:0001304	"" []	64720	\N	\N	EFO	0	EFO	larval day 4	larval day 4
EFO:0007695	EFO:0001304	\N	"Zebrafish have the ability to regenerate their fins, skin, heart, lateral line hair cells, and, during their larval stages, brain." []	EFO:0001304	"" []	205395	\N	\N	EFO	1	EFO	Danio rerio larval stage	larval day 4
EFO:0001305	\N	\N	"" []	EFO:0001305	"" []	64721	\N	\N	EFO	0	EFO	larval day 5	larval day 5
EFO:0007695	EFO:0001305	\N	"Zebrafish have the ability to regenerate their fins, skin, heart, lateral line hair cells, and, during their larval stages, brain." []	EFO:0001305	"" []	205396	\N	\N	EFO	1	EFO	Danio rerio larval stage	larval day 5
EFO:0001306	\N	\N	"" []	EFO:0001306	"" []	64722	\N	\N	EFO	0	EFO	larval day 6	larval day 6
EFO:0007695	EFO:0001306	\N	"Zebrafish have the ability to regenerate their fins, skin, heart, lateral line hair cells, and, during their larval stages, brain." []	EFO:0001306	"" []	205397	\N	\N	EFO	1	EFO	Danio rerio larval stage	larval day 6
EFO:0001307	\N	\N	"" []	EFO:0001307	"" []	64723	\N	\N	EFO	0	EFO	larval day 14-20	larval day 14-20
EFO:0007695	EFO:0001307	\N	"Zebrafish have the ability to regenerate their fins, skin, heart, lateral line hair cells, and, during their larval stages, brain." []	EFO:0001307	"" []	205398	\N	\N	EFO	1	EFO	Danio rerio larval stage	larval day 14-20
EFO:0001308	\N	\N	"" []	EFO:0001308	"" []	64724	\N	\N	EFO	0	EFO	larval day 21-29	larval day 21-29
EFO:0007695	EFO:0001308	\N	"Zebrafish have the ability to regenerate their fins, skin, heart, lateral line hair cells, and, during their larval stages, brain." []	EFO:0001308	"" []	205399	\N	\N	EFO	1	EFO	Danio rerio larval stage	larval day 21-29
EFO:0001309	\N	\N	"" []	EFO:0001309	"" []	64725	\N	\N	EFO	0	EFO	larval day 7-13	larval day 7-13
EFO:0007695	EFO:0001309	\N	"Zebrafish have the ability to regenerate their fins, skin, heart, lateral line hair cells, and, during their larval stages, brain." []	EFO:0001309	"" []	205400	\N	\N	EFO	1	EFO	Danio rerio larval stage	larval day 7-13
EFO:0001311	\N	\N	"" []	EFO:0001311	"" []	64726	\N	\N	EFO	0	EFO	pharyngula high-pec	pharyngula high-pec
UBERON:0004707	\N	\N	"A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities." [Wikipedia:Pharyngula]	EFO:0001311	"" []	194477	\N	efo_slim	EFO	0	EFO	pharyngula stage	pharyngula high-pec
EFO:0001312	\N	\N	"" []	EFO:0001312	"" []	64727	\N	\N	EFO	0	EFO	pharyngula prim-15	pharyngula prim-15
UBERON:0004707	\N	\N	"A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities." [Wikipedia:Pharyngula]	EFO:0001312	"" []	194478	\N	efo_slim	EFO	0	EFO	pharyngula stage	pharyngula prim-15
EFO:0001313	\N	\N	"" []	EFO:0001313	"" []	64728	\N	\N	EFO	0	EFO	pharyngula prim-25	pharyngula prim-25
UBERON:0004707	\N	\N	"A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities." [Wikipedia:Pharyngula]	EFO:0001313	"" []	194479	\N	efo_slim	EFO	0	EFO	pharyngula stage	pharyngula prim-25
EFO:0001314	\N	\N	"" []	EFO:0001314	"" []	64729	\N	\N	EFO	0	EFO	pharyngula prim-5	pharyngula prim-5
UBERON:0004707	\N	\N	"A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities." [Wikipedia:Pharyngula]	EFO:0001314	"" []	194480	\N	efo_slim	EFO	0	EFO	pharyngula stage	pharyngula prim-5
EFO:0001315	\N	\N	"" []	EFO:0001315	"" []	64730	\N	\N	EFO	0	EFO	segmentation stage	segmentation stage
EFO:0000399	EFO:0001315	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001315	"" []	205401	\N	\N	EFO	1	EFO	developmental stage	segmentation stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001315	"" []	558505	\N	\N	EFO	2	EFO	process	segmentation stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001315	"" []	1140682	\N	\N	EFO	3	EFO	experimental factor	segmentation stage
EFO:0001316	\N	\N	"" []	EFO:0001316	"" []	64731	\N	\N	EFO	0	EFO	segmentation 1-4 somites	segmentation 1-4 somites
EFO:0001315	EFO:0001316	\N	"" []	EFO:0001316	"" []	205402	\N	\N	EFO	1	EFO	segmentation stage	segmentation 1-4 somites
EFO:0000399	EFO:0001315	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001316	"" []	558506	\N	\N	EFO	2	EFO	developmental stage	segmentation 1-4 somites
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001316	"" []	1140683	\N	\N	EFO	3	EFO	process	segmentation 1-4 somites
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001316	"" []	2023658	\N	\N	EFO	4	EFO	experimental factor	segmentation 1-4 somites
EFO:0001317	\N	\N	"" []	EFO:0001317	"" []	64732	\N	\N	EFO	0	EFO	segmentation 5-9 somites	segmentation 5-9 somites
EFO:0001315	EFO:0001317	\N	"" []	EFO:0001317	"" []	205403	\N	\N	EFO	1	EFO	segmentation stage	segmentation 5-9 somites
EFO:0000399	EFO:0001315	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001317	"" []	558507	\N	\N	EFO	2	EFO	developmental stage	segmentation 5-9 somites
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001317	"" []	1140684	\N	\N	EFO	3	EFO	process	segmentation 5-9 somites
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001317	"" []	2023659	\N	\N	EFO	4	EFO	experimental factor	segmentation 5-9 somites
EFO:0001318	\N	\N	"" []	EFO:0001318	"" []	64733	\N	\N	EFO	0	EFO	segmentation 10-13 somites	segmentation 10-13 somites
EFO:0001315	EFO:0001318	\N	"" []	EFO:0001318	"" []	205404	\N	\N	EFO	1	EFO	segmentation stage	segmentation 10-13 somites
EFO:0000399	EFO:0001315	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001318	"" []	558508	\N	\N	EFO	2	EFO	developmental stage	segmentation 10-13 somites
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001318	"" []	1140685	\N	\N	EFO	3	EFO	process	segmentation 10-13 somites
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001318	"" []	2023660	\N	\N	EFO	4	EFO	experimental factor	segmentation 10-13 somites
EFO:0001319	\N	\N	"" []	EFO:0001319	"" []	64734	\N	\N	EFO	0	EFO	segmentation 14-19 somites	segmentation 14-19 somites
EFO:0001315	EFO:0001319	\N	"" []	EFO:0001319	"" []	205405	\N	\N	EFO	1	EFO	segmentation stage	segmentation 14-19 somites
EFO:0000399	EFO:0001315	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001319	"" []	558509	\N	\N	EFO	2	EFO	developmental stage	segmentation 14-19 somites
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001319	"" []	1140686	\N	\N	EFO	3	EFO	process	segmentation 14-19 somites
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001319	"" []	2023661	\N	\N	EFO	4	EFO	experimental factor	segmentation 14-19 somites
EFO:0001320	\N	\N	"" []	EFO:0001320	"" []	64735	\N	\N	EFO	0	EFO	segmentation 20-25 somites	segmentation 20-25 somites
EFO:0001315	EFO:0001320	\N	"" []	EFO:0001320	"" []	205406	\N	\N	EFO	1	EFO	segmentation stage	segmentation 20-25 somites
EFO:0000399	EFO:0001315	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001320	"" []	558510	\N	\N	EFO	2	EFO	developmental stage	segmentation 20-25 somites
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001320	"" []	1140687	\N	\N	EFO	3	EFO	process	segmentation 20-25 somites
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001320	"" []	2023662	\N	\N	EFO	4	EFO	experimental factor	segmentation 20-25 somites
EFO:0001321	\N	\N	"" []	EFO:0001321	"" []	64736	\N	\N	EFO	0	EFO	segmentation 26+ somites	segmentation 26+ somites
EFO:0001315	EFO:0001321	\N	"" []	EFO:0001321	"" []	205407	\N	\N	EFO	1	EFO	segmentation stage	segmentation 26+ somites
EFO:0000399	EFO:0001315	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001321	"" []	558511	\N	\N	EFO	2	EFO	developmental stage	segmentation 26+ somites
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001321	"" []	1140688	\N	\N	EFO	3	EFO	process	segmentation 26+ somites
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001321	"" []	2023663	\N	\N	EFO	4	EFO	experimental factor	segmentation 26+ somites
EFO:0001322	\N	\N	"Small but distinctive epithelial sac containing fluid, located midventrally posterior to the yolk cell or its extension, and transiently present during most of the segmentation period. Kupffer's vesicle has been compared to the mouse embryonic node." []	EFO:0001322	"Small but distinctive epithelial sac containing fluid, located midventrally posterior to the yolk cell or its extension, and transiently present during most of the segmentation period. Kupffer's vesicle has been compared to the mouse embryonic node." []	64737	\N	\N	EFO	0	EFO	fertilized egg stage	fertilized egg stage
EFO:0000399	EFO:0001322	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001322	"Small but distinctive epithelial sac containing fluid, located midventrally posterior to the yolk cell or its extension, and transiently present during most of the segmentation period. Kupffer's vesicle has been compared to the mouse embryonic node." []	205408	\N	\N	EFO	1	EFO	developmental stage	fertilized egg stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001322	"Small but distinctive epithelial sac containing fluid, located midventrally posterior to the yolk cell or its extension, and transiently present during most of the segmentation period. Kupffer's vesicle has been compared to the mouse embryonic node." []	558512	\N	\N	EFO	2	EFO	process	fertilized egg stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001322	"Small but distinctive epithelial sac containing fluid, located midventrally posterior to the yolk cell or its extension, and transiently present during most of the segmentation period. Kupffer's vesicle has been compared to the mouse embryonic node." []	1140689	\N	\N	EFO	3	EFO	experimental factor	fertilized egg stage
EFO:0001325	\N	\N	"" []	EFO:0001325	"" []	64738	\N	\N	EFO	0	EFO	Canton S	Canton S
NCBITaxon:7227	\N	\N	"" []	EFO:0001325	"" []	194481	\N	\N	EFO	0	EFO	Drosophila melanogaster	Canton S
EFO:0001326	\N	\N	"SALK_049497 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=4652085" []	EFO:0001326	"SALK_049497 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=4652085" []	64739	\N	\N	EFO	0	EFO	SALK_049497	SALK_049497
NCBITaxon:3702	\N	\N	"" []	EFO:0001326	"SALK_049497 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=4652085" []	194482	\N	\N	EFO	0	EFO	Arabidopsis thaliana	SALK_049497
EFO:0001327	\N	\N	"A/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000646.html" []	EFO:0001327	"A/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000646.html" []	64740	\N	\N	EFO	0	EFO	A/J	A/J
NCBITaxon:10090	\N	\N	"" []	EFO:0001327	"A/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000646.html" []	194483	\N	\N	EFO	0	EFO	Mus musculus	A/J
EFO:0001328	\N	\N	"B6.Cg-Tg(SOD1-G93A)1Gur/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/004435.html" []	EFO:0001328	"B6.Cg-Tg(SOD1-G93A)1Gur/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/004435.html" []	64741	\N	\N	EFO	0	EFO	B6.Cg-Tg(SOD1-G93A)1Gur/J	B6.Cg-Tg(SOD1-G93A)1Gur/J
NCBITaxon:10090	\N	\N	"" []	EFO:0001328	"B6.Cg-Tg(SOD1-G93A)1Gur/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/004435.html" []	194484	\N	\N	EFO	0	EFO	Mus musculus	B6.Cg-Tg(SOD1-G93A)1Gur/J
EFO:0001329	\N	\N	"C3H/HeJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000659.html" []	EFO:0001329	"C3H/HeJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000659.html" []	64742	\N	\N	EFO	0	EFO	C3H/HeJ	C3H/HeJ
NCBITaxon:10090	\N	\N	"" []	EFO:0001329	"C3H/HeJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000659.html" []	194485	\N	\N	EFO	0	EFO	Mus musculus	C3H/HeJ
EFO:0001331	\N	\N	"" []	EFO:0001331	"" []	64743	\N	\N	EFO	0	EFO	129P1/ReJ	129P1/ReJ
EFO:0000597	EFO:0001331	\N	"129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	EFO:0001331	"" []	205409	\N	\N	EFO	1	EFO	129 mouse strain	129P1/ReJ
EFO:0001332	\N	\N	"" []	EFO:0001332	"" []	64744	\N	\N	EFO	0	EFO	129S1/SvImJ	129S1/SvImJ
EFO:0000597	EFO:0001332	\N	"129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	EFO:0001332	"" []	205410	\N	\N	EFO	1	EFO	129 mouse strain	129S1/SvImJ
EFO:0001336	\N	\N	"CBA/CaJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000654.html" []	EFO:0001336	"CBA/CaJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000654.html" []	64745	\N	\N	EFO	0	EFO	CBA/CaJ	CBA/CaJ
NCBITaxon:10090	\N	\N	"" []	EFO:0001336	"CBA/CaJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000654.html" []	194486	\N	\N	EFO	0	EFO	Mus musculus	CBA/CaJ
EFO:0001337	\N	\N	"BDC2.5/NOD is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/004460.html" []	EFO:0001337	"BDC2.5/NOD is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/004460.html" []	64746	\N	\N	EFO	0	EFO	BDC2.5/NOD	BDC2.5/NOD
EFO:0002547	EFO:0001337	\N	"" []	EFO:0001337	"BDC2.5/NOD is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/004460.html" []	205411	\N	\N	EFO	1	EFO	NOD mouse	BDC2.5/NOD
EFO:0001338	\N	\N	"TBP-71Q-16 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/008216.html" []	EFO:0001338	"TBP-71Q-16 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/008216.html" []	64747	\N	\N	EFO	0	EFO	TBP-71Q-16	TBP-71Q-16
NCBITaxon:10090	\N	\N	"" []	EFO:0001338	"TBP-71Q-16 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/008216.html" []	194487	\N	\N	EFO	0	EFO	Mus musculus	TBP-71Q-16
EFO:0001339	\N	\N	"CB6F1 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/100007.html" []	EFO:0001339	"CB6F1 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/100007.html" []	64748	\N	\N	EFO	0	EFO	CB6F1	CB6F1
NCBITaxon:10090	\N	\N	"" []	EFO:0001339	"CB6F1 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/100007.html" []	194488	\N	\N	EFO	0	EFO	Mus musculus	CB6F1
EFO:0001340	\N	\N	"B6C3F1 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/100010.html" []	EFO:0001340	"B6C3F1 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/100010.html" []	64749	\N	\N	EFO	0	EFO	B6C3F1	B6C3F1
NCBITaxon:10090	\N	\N	"" []	EFO:0001340	"B6C3F1 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/100010.html" []	194489	\N	\N	EFO	0	EFO	Mus musculus	B6C3F1
EFO:0001341	\N	\N	"TBP-105Q is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/008075.html" []	EFO:0001341	"TBP-105Q is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/008075.html" []	64750	\N	\N	EFO	0	EFO	TBP-105Q	TBP-105Q
NCBITaxon:10090	\N	\N	"" []	EFO:0001341	"TBP-105Q is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/008075.html" []	194490	\N	\N	EFO	0	EFO	Mus musculus	TBP-105Q
EFO:0001342	\N	\N	"" []	EFO:0001342	"" []	64751	\N	\N	EFO	0	EFO	Wistar	Wistar
NCBITaxon:10116	\N	\N	"" []	EFO:0001342	"" []	194491	\N	\N	EFO	0	EFO	Rattus norvegicus	Wistar
EFO:0001343	\N	\N	"" []	EFO:0001343	"" []	64752	\N	\N	EFO	0	EFO	Wistar-Furth	Wistar-Furth
NCBITaxon:10116	\N	\N	"" []	EFO:0001343	"" []	194492	\N	\N	EFO	0	EFO	Rattus norvegicus	Wistar-Furth
EFO:0001344	\N	\N	"" []	EFO:0001344	"" []	64753	\N	\N	EFO	0	EFO	Copenhagen	Copenhagen
NCBITaxon:10116	\N	\N	"" []	EFO:0001344	"" []	194493	\N	\N	EFO	0	EFO	Rattus norvegicus	Copenhagen
EFO:0001345	\N	\N	"" []	EFO:0001345	"" []	64754	\N	\N	EFO	0	EFO	Wistar-Kyoto	Wistar-Kyoto
NCBITaxon:10116	\N	\N	"" []	EFO:0001345	"" []	194494	\N	\N	EFO	0	EFO	Rattus norvegicus	Wistar-Kyoto
EFO:0001346	\N	\N	"" []	EFO:0001346	"" []	64755	\N	\N	EFO	0	EFO	Syracuse High Avoidance	Syracuse High Avoidance
NCBITaxon:10116	\N	\N	"" []	EFO:0001346	"" []	194495	\N	\N	EFO	0	EFO	Rattus norvegicus	Syracuse High Avoidance
EFO:0001347	\N	\N	"" []	EFO:0001347	"" []	64756	\N	\N	EFO	0	EFO	Syracuse Low Avoidance	Syracuse Low Avoidance
NCBITaxon:10116	\N	\N	"" []	EFO:0001347	"" []	194496	\N	\N	EFO	0	EFO	Rattus norvegicus	Syracuse Low Avoidance
EFO:0001348	\N	\N	"" []	EFO:0001348	"" []	64757	\N	\N	EFO	0	EFO	Okamoto-Aoki	Okamoto-Aoki
NCBITaxon:10116	\N	\N	"" []	EFO:0001348	"" []	194497	\N	\N	EFO	0	EFO	Rattus norvegicus	Okamoto-Aoki
EFO:0001349	\N	\N	"" []	EFO:0001349	"" []	64758	\N	\N	EFO	0	EFO	Dahl salt-resistant	Dahl salt-resistant
NCBITaxon:10116	\N	\N	"" []	EFO:0001349	"" []	194498	\N	\N	EFO	0	EFO	Rattus norvegicus	Dahl salt-resistant
EFO:0001350	\N	\N	"" []	EFO:0001350	"" []	64759	\N	\N	EFO	0	EFO	Dahl salt-sensitive	Dahl salt-sensitive
NCBITaxon:10116	\N	\N	"" []	EFO:0001350	"" []	194499	\N	\N	EFO	0	EFO	Rattus norvegicus	Dahl salt-sensitive
EFO:0001351	\N	\N	"" []	EFO:0001351	"" []	64760	\N	\N	EFO	0	EFO	WKY	WKY
NCBITaxon:10116	\N	\N	"" []	EFO:0001351	"" []	194500	\N	\N	EFO	0	EFO	Rattus norvegicus	WKY
EFO:0001352	\N	\N	"" []	EFO:0001352	"" []	64761	\N	\N	EFO	0	EFO	Sprague Dawley	Sprague Dawley
NCBITaxon:10116	\N	\N	"" []	EFO:0001352	"" []	194501	\N	\N	EFO	0	EFO	Rattus norvegicus	Sprague Dawley
EFO:0001353	\N	\N	"" []	EFO:0001353	"" []	64762	\N	\N	EFO	0	EFO	Lewis	Lewis
NCBITaxon:10116	\N	\N	"" []	EFO:0001353	"" []	194502	\N	\N	EFO	0	EFO	Rattus norvegicus	Lewis
EFO:0001354	\N	\N	"SALK_037727 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=4640315" []	EFO:0001354	"SALK_037727 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=4640315" []	64763	\N	\N	EFO	0	EFO	SALK_037727	SALK_037727
NCBITaxon:3702	\N	\N	"" []	EFO:0001354	"SALK_037727 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=4640315" []	194503	\N	\N	EFO	0	EFO	Arabidopsis thaliana	SALK_037727
EFO:0001355	\N	\N	"" []	EFO:0001355	"" []	64764	\N	\N	EFO	0	EFO	infant	infant
EFO:0000399	EFO:0001355	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001355	"" []	205412	\N	\N	EFO	1	EFO	developmental stage	infant
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001355	"" []	558513	\N	\N	EFO	2	EFO	process	infant
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001355	"" []	1140690	\N	\N	EFO	3	EFO	experimental factor	infant
EFO:0001356	\N	\N	"Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists." []	EFO:0001356	"Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists." []	64765	\N	\N	EFO	0	EFO	familial amyotrophic lateral sclerosis	familial amyotrophic lateral sclerosis
EFO:0000253	EFO:0001356	\N	"An autosomal dominant inherited form of amyloidosis." []	EFO:0001356	"Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists." []	205413	\N	\N	EFO	1	EFO	amyotrophic lateral sclerosis	familial amyotrophic lateral sclerosis
EFO:0003782	EFO:0000253	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	EFO:0001356	"Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists." []	558514	\N	\N	EFO	2	EFO	motor neuron disease	familial amyotrophic lateral sclerosis
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:0001356	"Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists." []	1140691	\N	\N	EFO	3	EFO	neurodegenerative disease	familial amyotrophic lateral sclerosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0001356	"Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists." []	2023664	\N	\N	EFO	4	EFO	nervous system disease	familial amyotrophic lateral sclerosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001356	"Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists." []	3177330	\N	\N	EFO	5	EFO	disease	familial amyotrophic lateral sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001356	"Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists." []	4387710	\N	\N	EFO	6	EFO	disposition	familial amyotrophic lateral sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001356	"Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists." []	5408590	\N	\N	EFO	7	EFO	material property	familial amyotrophic lateral sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001356	"Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists." []	6147427	\N	\N	EFO	8	EFO	experimental factor	familial amyotrophic lateral sclerosis
EFO:0001357	\N	\N	"Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." []	EFO:0001357	"Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." []	64766	\N	\N	EFO	0	EFO	sporadic amyotrophic lateral sclerosis	sporadic amyotrophic lateral sclerosis
EFO:0000253	EFO:0001357	\N	"An autosomal dominant inherited form of amyloidosis." []	EFO:0001357	"Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." []	205414	\N	\N	EFO	1	EFO	amyotrophic lateral sclerosis	sporadic amyotrophic lateral sclerosis
EFO:0003782	EFO:0000253	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	EFO:0001357	"Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." []	558515	\N	\N	EFO	2	EFO	motor neuron disease	sporadic amyotrophic lateral sclerosis
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:0001357	"Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." []	1140692	\N	\N	EFO	3	EFO	neurodegenerative disease	sporadic amyotrophic lateral sclerosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0001357	"Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." []	2023665	\N	\N	EFO	4	EFO	nervous system disease	sporadic amyotrophic lateral sclerosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001357	"Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." []	3177331	\N	\N	EFO	5	EFO	disease	sporadic amyotrophic lateral sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001357	"Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." []	4387711	\N	\N	EFO	6	EFO	disposition	sporadic amyotrophic lateral sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001357	"Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." []	5408591	\N	\N	EFO	7	EFO	material property	sporadic amyotrophic lateral sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001357	"Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." []	6147428	\N	\N	EFO	8	EFO	experimental factor	sporadic amyotrophic lateral sclerosis
EFO:0001358	\N	\N	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." []	EFO:0001358	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." []	64767	\N	\N	EFO	0	EFO	post-traumatic stress disorder	post-traumatic stress disorder
EFO:0006788	EFO:0001358	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:0001358	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." []	205415	\N	\N	EFO	1	EFO	anxiety disorder	post-traumatic stress disorder
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0001358	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." []	558516	\N	\N	EFO	2	EFO	mental or behavioural disorder	post-traumatic stress disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0001358	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." []	1140693	\N	\N	EFO	3	EFO	brain disease	post-traumatic stress disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0001358	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." []	2023666	\N	\N	EFO	4	EFO	nervous system disease	post-traumatic stress disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001358	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." []	3177332	\N	\N	EFO	5	EFO	disease	post-traumatic stress disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001358	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." []	4387712	\N	\N	EFO	6	EFO	disposition	post-traumatic stress disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001358	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." []	5408592	\N	\N	EFO	7	EFO	material property	post-traumatic stress disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001358	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." []	6147429	\N	\N	EFO	8	EFO	experimental factor	post-traumatic stress disorder
EFO:0001359	\N	\N	"Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." []	EFO:0001359	"Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." []	64768	\N	\N	EFO	0	EFO	type I diabetes mellitus	type I diabetes mellitus
EFO:0000400	EFO:0001359	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	EFO:0001359	"Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." []	205416	\N	\N	EFO	1	EFO	diabetes mellitus	type I diabetes mellitus
EFO:0005140	EFO:0001359	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0001359	"Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." []	205417	\N	\N	EFO	1	EFO	autoimmune disease	type I diabetes mellitus
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0001359	"Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." []	558517	\N	\N	EFO	2	EFO	metabolic disease	type I diabetes mellitus
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0001359	"Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." []	558518	\N	\N	EFO	2	EFO	immune system disease	type I diabetes mellitus
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001359	"Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." []	1140694	\N	\N	EFO	3	EFO	disease	type I diabetes mellitus
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001359	"Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." []	1140695	\N	\N	EFO	3	EFO	disease	type I diabetes mellitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001359	"Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." []	2023667	\N	\N	EFO	4	EFO	disposition	type I diabetes mellitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001359	"Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." []	3177333	\N	\N	EFO	5	EFO	material property	type I diabetes mellitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001359	"Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence." []	4387713	\N	\N	EFO	6	EFO	experimental factor	type I diabetes mellitus
EFO:0001360	\N	\N	"A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." []	EFO:0001360	"A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." []	64769	\N	\N	EFO	0	EFO	type II diabetes mellitus	type II diabetes mellitus
EFO:0000400	EFO:0001360	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	EFO:0001360	"A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." []	205418	\N	\N	EFO	1	EFO	diabetes mellitus	type II diabetes mellitus
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0001360	"A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." []	558519	\N	\N	EFO	2	EFO	metabolic disease	type II diabetes mellitus
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001360	"A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." []	1140696	\N	\N	EFO	3	EFO	disease	type II diabetes mellitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001360	"A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." []	2023668	\N	\N	EFO	4	EFO	disposition	type II diabetes mellitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001360	"A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." []	3177334	\N	\N	EFO	5	EFO	material property	type II diabetes mellitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001360	"A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." []	4387714	\N	\N	EFO	6	EFO	experimental factor	type II diabetes mellitus
EFO:0001361	\N	\N	"Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." []	EFO:0001361	"Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." []	64770	\N	\N	EFO	0	EFO	pulmonary hypertension	pulmonary hypertension
EFO:0000537	EFO:0001361	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:0001361	"Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." []	205419	\N	\N	EFO	1	EFO	hypertension	pulmonary hypertension
EFO:0004264	EFO:0001361	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0001361	"Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." []	205420	\N	\N	EFO	1	EFO	vascular disease	pulmonary hypertension
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0001361	"Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." []	558520	\N	\N	EFO	2	EFO	cardiovascular disease	pulmonary hypertension
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0001361	"Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." []	558521	\N	\N	EFO	2	EFO	cardiovascular disease	pulmonary hypertension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001361	"Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." []	1140697	\N	\N	EFO	3	EFO	disease	pulmonary hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001361	"Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." []	2023669	\N	\N	EFO	4	EFO	disposition	pulmonary hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001361	"Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." []	3177335	\N	\N	EFO	5	EFO	material property	pulmonary hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001361	"Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." []	4387715	\N	\N	EFO	6	EFO	experimental factor	pulmonary hypertension
EFO:0001365	\N	\N	"Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." []	EFO:0001365	"Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." []	64771	\N	\N	EFO	0	EFO	age-related macular degeneration	age-related macular degeneration
EFO:0001058	EFO:0001365	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0001365	"Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." []	205421	\N	\N	EFO	1	EFO	sensory system disease	age-related macular degeneration
EFO:0003966	EFO:0001365	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0001365	"Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." []	205422	\N	\N	EFO	1	EFO	eye disease	age-related macular degeneration
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0001365	"Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." []	558522	\N	\N	EFO	2	EFO	nervous system disease	age-related macular degeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001365	"Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." []	558523	\N	\N	EFO	2	EFO	disease	age-related macular degeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001365	"Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." []	1140698	\N	\N	EFO	3	EFO	disease	age-related macular degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001365	"Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." []	2023670	\N	\N	EFO	4	EFO	disposition	age-related macular degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001365	"Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." []	2999314	\N	\N	EFO	5	EFO	material property	age-related macular degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001365	"Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." []	4132570	\N	\N	EFO	6	EFO	experimental factor	age-related macular degeneration
EFO:0001369	\N	\N	"The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins." []	EFO:0001369	"The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins." []	64772	\N	\N	EFO	0	EFO	vertebral column structure	vertebral column structure
UBERON:0002090	\N	\N	"The post-cranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]." [https://sourceforge.net/tracker/?func=detail&aid=2983975&group_id=76834&atid=974957, https://sourceforge.net/tracker/?func=detail&atid=1205376&aid=2983977&group_id=76834, ZFA:0000317]	EFO:0001369	"The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins." []	194504	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	postcranial axial skeleton	vertebral column structure
EFO:0001372	\N	\N	"An infant during the first month after birth." []	EFO:0001372	"An infant during the first month after birth." []	64773	\N	\N	EFO	0	EFO	neonate	neonate
EFO:0001355	EFO:0001372	\N	"" []	EFO:0001372	"An infant during the first month after birth." []	205423	\N	\N	EFO	1	EFO	infant	neonate
EFO:0000399	EFO:0001355	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0001372	"An infant during the first month after birth." []	558524	\N	\N	EFO	2	EFO	developmental stage	neonate
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001372	"An infant during the first month after birth." []	1140700	\N	\N	EFO	3	EFO	process	neonate
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001372	"An infant during the first month after birth." []	2023672	\N	\N	EFO	4	EFO	experimental factor	neonate
EFO:0001376	\N	\N	"A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11).  It can occur at any age, but mainly affects young adults, more commonly males.  Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee.  Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components).  Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes." []	EFO:0001376	"A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11).  It can occur at any age, but mainly affects young adults, more commonly males.  Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee.  Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components).  Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes." []	64774	\N	\N	EFO	0	EFO	synovial sarcoma	synovial sarcoma
EFO:0000691	EFO:0001376	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0001376	"A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11).  It can occur at any age, but mainly affects young adults, more commonly males.  Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee.  Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components).  Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes." []	205424	\N	\N	EFO	1	EFO	sarcoma	synovial sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0001376	"A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11).  It can occur at any age, but mainly affects young adults, more commonly males.  Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee.  Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components).  Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes." []	558525	\N	\N	EFO	2	EFO	cancer	synovial sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001376	"A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11).  It can occur at any age, but mainly affects young adults, more commonly males.  Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee.  Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components).  Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes." []	1140701	\N	\N	EFO	3	EFO	neoplasm	synovial sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001376	"A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11).  It can occur at any age, but mainly affects young adults, more commonly males.  Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee.  Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components).  Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes." []	2023673	\N	\N	EFO	4	EFO	disease	synovial sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001376	"A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11).  It can occur at any age, but mainly affects young adults, more commonly males.  Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee.  Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components).  Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes." []	3177337	\N	\N	EFO	5	EFO	disposition	synovial sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001376	"A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11).  It can occur at any age, but mainly affects young adults, more commonly males.  Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee.  Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components).  Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes." []	4387716	\N	\N	EFO	6	EFO	material property	synovial sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001376	"A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11).  It can occur at any age, but mainly affects young adults, more commonly males.  Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee.  Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components).  Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes." []	5408593	\N	\N	EFO	7	EFO	experimental factor	synovial sarcoma
EFO:0001378	\N	\N	"A myeloma that is located_in the plasma cells in bone marrow." []	EFO:0001378	"A myeloma that is located_in the plasma cells in bone marrow." []	64775	\N	\N	EFO	0	EFO	multiple myeloma	multiple myeloma
EFO:0000200	EFO:0001378	\N	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	EFO:0001378	"A myeloma that is located_in the plasma cells in bone marrow." []	205425	\N	\N	EFO	1	EFO	plasma cell neoplasm	multiple myeloma
EFO:0000096	EFO:0000200	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:0001378	"A myeloma that is located_in the plasma cells in bone marrow." []	558526	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	multiple myeloma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0001378	"A myeloma that is located_in the plasma cells in bone marrow." []	1140702	\N	\N	EFO	3	EFO	lymphoid neoplasm	multiple myeloma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0001378	"A myeloma that is located_in the plasma cells in bone marrow." []	2023674	\N	\N	EFO	4	EFO	cancer	multiple myeloma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0001378	"A myeloma that is located_in the plasma cells in bone marrow." []	2023675	\N	\N	EFO	4	EFO	hematological system disease	multiple myeloma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001378	"A myeloma that is located_in the plasma cells in bone marrow." []	3177338	\N	\N	EFO	5	EFO	neoplasm	multiple myeloma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001378	"A myeloma that is located_in the plasma cells in bone marrow." []	3177339	\N	\N	EFO	5	EFO	disease	multiple myeloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001378	"A myeloma that is located_in the plasma cells in bone marrow." []	4387717	\N	\N	EFO	6	EFO	disease	multiple myeloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001378	"A myeloma that is located_in the plasma cells in bone marrow." []	5408594	\N	\N	EFO	7	EFO	disposition	multiple myeloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001378	"A myeloma that is located_in the plasma cells in bone marrow." []	5996568	\N	\N	EFO	8	EFO	material property	multiple myeloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001378	"A myeloma that is located_in the plasma cells in bone marrow." []	6550361	\N	\N	EFO	9	EFO	experimental factor	multiple myeloma
EFO:0001379	\N	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0001379	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	64776	\N	\N	EFO	0	EFO	endocrine system disease	endocrine system disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001379	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	205426	\N	\N	EFO	1	EFO	disease	endocrine system disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001379	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	558527	\N	\N	EFO	2	EFO	disposition	endocrine system disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001379	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	1140703	\N	\N	EFO	3	EFO	material property	endocrine system disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001379	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	2023676	\N	\N	EFO	4	EFO	experimental factor	endocrine system disease
EFO:0001380	\N	\N	"Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions." []	EFO:0001380	"Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions." []	64777	\N	\N	EFO	0	EFO	hypopituitarism	hypopituitarism
EFO:0001379	EFO:0001380	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0001380	"Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions." []	205427	\N	\N	EFO	1	EFO	endocrine system disease	hypopituitarism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001380	"Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions." []	558528	\N	\N	EFO	2	EFO	disease	hypopituitarism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001380	"Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions." []	1140704	\N	\N	EFO	3	EFO	disposition	hypopituitarism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001380	"Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions." []	2023677	\N	\N	EFO	4	EFO	material property	hypopituitarism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001380	"Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions." []	3177340	\N	\N	EFO	5	EFO	experimental factor	hypopituitarism
EFO:0001382	\N	\N	"The process of sexual maturation mediated by the neuroendocrine system in mammals." []	EFO:0001382	"The process of sexual maturation mediated by the neuroendocrine system in mammals." []	64778	\N	\N	EFO	0	EFO	puberty	puberty
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	EFO:0001382	"The process of sexual maturation mediated by the neuroendocrine system in mammals." []	194505	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	puberty
EFO:0001404	\N	\N	"One of two or three twisted, curved tubules in each lobule of the testis in which spermatozoa develop." []	EFO:0001404	"One of two or three twisted, curved tubules in each lobule of the testis in which spermatozoa develop." []	64779	\N	\N	EFO	0	EFO	seminiferous tubules	seminiferous tubules
EFO:0000787	EFO:0001404	\N	"" []	EFO:0001404	"One of two or three twisted, curved tubules in each lobule of the testis in which spermatozoa develop." []	205428	\N	\N	EFO	1	EFO	animal component	seminiferous tubules
EFO:0000786	EFO:0000787	\N	"" []	EFO:0001404	"One of two or three twisted, curved tubules in each lobule of the testis in which spermatozoa develop." []	558529	\N	\N	EFO	2	EFO	anatomy basic component	seminiferous tubules
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001404	"One of two or three twisted, curved tubules in each lobule of the testis in which spermatozoa develop." []	1140705	\N	\N	EFO	3	EFO	organism part	seminiferous tubules
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001404	"One of two or three twisted, curved tubules in each lobule of the testis in which spermatozoa develop." []	2023678	\N	\N	EFO	4	EFO	material entity	seminiferous tubules
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001404	"One of two or three twisted, curved tubules in each lobule of the testis in which spermatozoa develop." []	3177341	\N	\N	EFO	5	EFO	experimental factor	seminiferous tubules
EFO:0001408	\N	\N	"" []	EFO:0001408	"" []	64780	\N	\N	EFO	0	EFO	cervical neck region	cervical neck region
EFO:0001369	EFO:0001408	\N	"The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins." []	EFO:0001408	"" []	205429	\N	\N	EFO	1	EFO	vertebral column structure	cervical neck region
EFO:0001414	\N	\N	"" []	EFO:0001414	"" []	64781	\N	\N	EFO	0	EFO	embryonic gonadal ridge	embryonic gonadal ridge
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	EFO:0001414	"" []	194506	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic gonadal ridge
EFO:0001416	\N	\N	"Tumors or cancer of the UTERINE CERVIX." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	64782	\N	\N	EFO	0	EFO	cervical adenocarcinoma	cervical adenocarcinoma
EFO:0000228	EFO:0001416	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	205430	\N	\N	EFO	1	EFO	adenocarcinoma	cervical adenocarcinoma
EFO:0000512	EFO:0001416	\N	"any diease of the reproductive system" []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	205431	\N	\N	EFO	1	EFO	reproductive system disease	cervical adenocarcinoma
EFO:0003863	EFO:0001416	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	205432	\N	\N	EFO	1	EFO	urogenital neoplasm	cervical adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	558530	\N	\N	EFO	2	EFO	carcinoma	cervical adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	558531	\N	\N	EFO	2	EFO	disease	cervical adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	558532	\N	\N	EFO	2	EFO	neoplasm	cervical adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	1140706	\N	\N	EFO	3	EFO	cancer	cervical adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	1140707	\N	\N	EFO	3	EFO	epithelial neoplasm	cervical adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	4066679	\N	\N	EFO	6	EFO	disposition	cervical adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	3177342	\N	\N	EFO	5	EFO	disease	cervical adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	2023679	\N	\N	EFO	4	EFO	neoplasm	cervical adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	2023680	\N	\N	EFO	4	EFO	neoplasm	cervical adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	5028326	\N	\N	EFO	7	EFO	material property	cervical adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001416	"Tumors or cancer of the UTERINE CERVIX." []	5817351	\N	\N	EFO	8	EFO	experimental factor	cervical adenocarcinoma
EFO:0001421	\N	\N	"Pathological processes of the LIVER." []	EFO:0001421	"Pathological processes of the LIVER." []	64783	\N	\N	EFO	0	EFO	liver disease	liver disease
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0001421	"Pathological processes of the LIVER." []	205433	\N	\N	EFO	1	EFO	digestive system disease	liver disease
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0001421	"Pathological processes of the LIVER." []	205434	\N	\N	EFO	1	EFO	endocrine system disease	liver disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001421	"Pathological processes of the LIVER." []	558533	\N	\N	EFO	2	EFO	disease	liver disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001421	"Pathological processes of the LIVER." []	558534	\N	\N	EFO	2	EFO	disease	liver disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001421	"Pathological processes of the LIVER." []	1140710	\N	\N	EFO	3	EFO	disposition	liver disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001421	"Pathological processes of the LIVER." []	2023683	\N	\N	EFO	4	EFO	material property	liver disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001421	"Pathological processes of the LIVER." []	3177344	\N	\N	EFO	5	EFO	experimental factor	liver disease
EFO:0001422	\N	\N	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	64784	\N	\N	EFO	0	EFO	cirrhosis of liver	cirrhosis of liver
EFO:0006890	EFO:0001422	\N	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	205435	\N	\N	EFO	1	EFO	fibrosis	cirrhosis of liver
EFO:1001513	EFO:0001422	\N	"Tumors or cancers of the LIVER." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	205436	\N	\N	EFO	1	EFO	liver neoplasm	cirrhosis of liver
EFO:0000616	EFO:0006890	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	558535	\N	\N	EFO	2	EFO	neoplasm	cirrhosis of liver
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	558536	\N	\N	EFO	2	EFO	liver disease	cirrhosis of liver
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	558537	\N	\N	EFO	2	EFO	endocrine neoplasm	cirrhosis of liver
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	2023687	\N	\N	EFO	4	EFO	disease	cirrhosis of liver
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	1140712	\N	\N	EFO	3	EFO	digestive system disease	cirrhosis of liver
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	1140713	\N	\N	EFO	3	EFO	endocrine system disease	cirrhosis of liver
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	1140714	\N	\N	EFO	3	EFO	neoplasm	cirrhosis of liver
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	1140715	\N	\N	EFO	3	EFO	endocrine system disease	cirrhosis of liver
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	2999316	\N	\N	EFO	5	EFO	disposition	cirrhosis of liver
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	2023685	\N	\N	EFO	4	EFO	disease	cirrhosis of liver
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	2023686	\N	\N	EFO	4	EFO	disease	cirrhosis of liver
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	4132572	\N	\N	EFO	6	EFO	material property	cirrhosis of liver
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001422	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	5180917	\N	\N	EFO	7	EFO	experimental factor	cirrhosis of liver
EFO:0001423	\N	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:0001423	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	64785	\N	\N	EFO	0	EFO	encephalomyelitis	encephalomyelitis
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:0001423	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	205437	\N	\N	EFO	1	EFO	central nervous system infection	encephalomyelitis
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0001423	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	558538	\N	\N	EFO	2	EFO	nervous system disease	encephalomyelitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001423	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	1140716	\N	\N	EFO	3	EFO	disease	encephalomyelitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001423	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	2023688	\N	\N	EFO	4	EFO	disposition	encephalomyelitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001423	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	3177346	\N	\N	EFO	5	EFO	material property	encephalomyelitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001423	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	4387720	\N	\N	EFO	6	EFO	experimental factor	encephalomyelitis
EFO:0001425	\N	\N	"Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause." []	EFO:0001425	"Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause." []	64786	\N	\N	EFO	0	EFO	ischemic cardiomyopathy	ischemic cardiomyopathy
EFO:0000318	EFO:0001425	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:0001425	"Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause." []	205438	\N	\N	EFO	1	EFO	cardiomyopathy	ischemic cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0001425	"Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause." []	558539	\N	\N	EFO	2	EFO	heart disease	ischemic cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0001425	"Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause." []	1140717	\N	\N	EFO	3	EFO	cardiovascular disease	ischemic cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001425	"Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause." []	2023689	\N	\N	EFO	4	EFO	disease	ischemic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001425	"Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause." []	3177347	\N	\N	EFO	5	EFO	disposition	ischemic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001425	"Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause." []	4387721	\N	\N	EFO	6	EFO	material property	ischemic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001425	"Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause." []	5408596	\N	\N	EFO	7	EFO	experimental factor	ischemic cardiomyopathy
EFO:0001426	\N	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001426	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	64787	\N	\N	EFO	0	EFO	study design	study design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001426	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	205439	\N	\N	EFO	1	EFO	protocol	study design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001426	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	558540	\N	\N	EFO	2	EFO	information entity	study design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001426	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	1140718	\N	\N	EFO	3	EFO	experimental factor	study design
EFO:0001427	\N	\N	"A case-control study design compares two groups of subjects: those with the disease or condition under study (cases) and a very similar group of subjects who do not have the disease or condition (controls)." []	EFO:0001427	"A case-control study design compares two groups of subjects: those with the disease or condition under study (cases) and a very similar group of subjects who do not have the disease or condition (controls)." []	64788	\N	\N	EFO	0	EFO	case control design	case control design
EFO:0004667	EFO:0001427	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001427	"A case-control study design compares two groups of subjects: those with the disease or condition under study (cases) and a very similar group of subjects who do not have the disease or condition (controls)." []	205440	\N	\N	EFO	1	EFO	biological variation design	case control design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001427	"A case-control study design compares two groups of subjects: those with the disease or condition under study (cases) and a very similar group of subjects who do not have the disease or condition (controls)." []	558541	\N	\N	EFO	2	EFO	study design	case control design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001427	"A case-control study design compares two groups of subjects: those with the disease or condition under study (cases) and a very similar group of subjects who do not have the disease or condition (controls)." []	1140719	\N	\N	EFO	3	EFO	protocol	case control design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001427	"A case-control study design compares two groups of subjects: those with the disease or condition under study (cases) and a very similar group of subjects who do not have the disease or condition (controls)." []	2023690	\N	\N	EFO	4	EFO	information entity	case control design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001427	"A case-control study design compares two groups of subjects: those with the disease or condition under study (cases) and a very similar group of subjects who do not have the disease or condition (controls)." []	3177348	\N	\N	EFO	5	EFO	experimental factor	case control design
EFO:0001428	\N	\N	"A study in which participants are examined at only a single time for characteristics of a disease." []	EFO:0001428	"A study in which participants are examined at only a single time for characteristics of a disease." []	64789	\N	\N	EFO	0	EFO	cross sectional design	cross sectional design
EFO:0004667	EFO:0001428	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001428	"A study in which participants are examined at only a single time for characteristics of a disease." []	205441	\N	\N	EFO	1	EFO	biological variation design	cross sectional design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001428	"A study in which participants are examined at only a single time for characteristics of a disease." []	558542	\N	\N	EFO	2	EFO	study design	cross sectional design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001428	"A study in which participants are examined at only a single time for characteristics of a disease." []	1140720	\N	\N	EFO	3	EFO	protocol	cross sectional design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001428	"A study in which participants are examined at only a single time for characteristics of a disease." []	2023691	\N	\N	EFO	4	EFO	information entity	cross sectional design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001428	"A study in which participants are examined at only a single time for characteristics of a disease." []	3177349	\N	\N	EFO	5	EFO	experimental factor	cross sectional design
EFO:0001429	\N	\N	"Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring." []	EFO:0001429	"Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring." []	64790	\N	\N	EFO	0	EFO	family based design	family based design
EFO:0004667	EFO:0001429	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001429	"Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring." []	205442	\N	\N	EFO	1	EFO	biological variation design	family based design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001429	"Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring." []	558543	\N	\N	EFO	2	EFO	study design	family based design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001429	"Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring." []	1140721	\N	\N	EFO	3	EFO	protocol	family based design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001429	"Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring." []	2023692	\N	\N	EFO	4	EFO	information entity	family based design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001429	"Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring." []	3177350	\N	\N	EFO	5	EFO	experimental factor	family based design
EFO:0001430	\N	\N	"Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment." []	EFO:0001430	"Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment." []	64791	\N	\N	EFO	0	EFO	population based design	population based design
EFO:0004667	EFO:0001430	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001430	"Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment." []	205443	\N	\N	EFO	1	EFO	biological variation design	population based design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001430	"Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment." []	558544	\N	\N	EFO	2	EFO	study design	population based design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001430	"Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment." []	1140722	\N	\N	EFO	3	EFO	protocol	population based design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001430	"Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment." []	2023693	\N	\N	EFO	4	EFO	information entity	population based design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001430	"Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment." []	3177351	\N	\N	EFO	5	EFO	experimental factor	population based design
EFO:0001431	\N	\N	"A twin study design is a study design in behavior genetics which aid the study of individual differences between genetically identical twins by highlighting the role of environmental and genetic causes on behavior." []	EFO:0001431	"A twin study design is a study design in behavior genetics which aid the study of individual differences between genetically identical twins by highlighting the role of environmental and genetic causes on behavior." []	64792	\N	\N	EFO	0	EFO	twin design	twin design
EFO:0001429	EFO:0001431	\N	"Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring." []	EFO:0001431	"A twin study design is a study design in behavior genetics which aid the study of individual differences between genetically identical twins by highlighting the role of environmental and genetic causes on behavior." []	205444	\N	\N	EFO	1	EFO	family based design	twin design
EFO:0004667	EFO:0001429	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001431	"A twin study design is a study design in behavior genetics which aid the study of individual differences between genetically identical twins by highlighting the role of environmental and genetic causes on behavior." []	558545	\N	\N	EFO	2	EFO	biological variation design	twin design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001431	"A twin study design is a study design in behavior genetics which aid the study of individual differences between genetically identical twins by highlighting the role of environmental and genetic causes on behavior." []	1140723	\N	\N	EFO	3	EFO	study design	twin design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001431	"A twin study design is a study design in behavior genetics which aid the study of individual differences between genetically identical twins by highlighting the role of environmental and genetic causes on behavior." []	2023694	\N	\N	EFO	4	EFO	protocol	twin design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001431	"A twin study design is a study design in behavior genetics which aid the study of individual differences between genetically identical twins by highlighting the role of environmental and genetic causes on behavior." []	3177352	\N	\N	EFO	5	EFO	information entity	twin design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001431	"A twin study design is a study design in behavior genetics which aid the study of individual differences between genetically identical twins by highlighting the role of environmental and genetic causes on behavior." []	4387722	\N	\N	EFO	6	EFO	experimental factor	twin design
EFO:0001444	\N	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0001444	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	64793	\N	\N	EFO	0	EFO	measurement	measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001444	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	205445	\N	\N	EFO	1	EFO	information entity	measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001444	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	558546	\N	\N	EFO	2	EFO	experimental factor	measurement
EFO:0001451	\N	\N	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	EFO:0001451	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	64794	\N	\N	EFO	0	EFO	instrument design	instrument design
IAO:0000030	EFO:0001451	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001451	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	205446	\N	\N	EFO	1	EFO	information entity	instrument design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001451	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	558547	\N	\N	EFO	2	EFO	experimental factor	instrument design
EFO:0001456	\N	\N	"An assay with input DNA" []	EFO:0001456	"An assay with input DNA" []	64795	\N	\N	EFO	0	EFO	DNA assay	DNA assay
EFO:0002772	EFO:0001456	\N	"" []	EFO:0001456	"An assay with input DNA" []	205447	\N	\N	EFO	1	EFO	assay by molecule	DNA assay
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0001456	"An assay with input DNA" []	558548	\N	\N	EFO	2	EFO	assay	DNA assay
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0001456	"An assay with input DNA" []	1140724	\N	\N	EFO	3	EFO	experimental process	DNA assay
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0001456	"An assay with input DNA" []	2023695	\N	\N	EFO	4	EFO	planned process	DNA assay
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001456	"An assay with input DNA" []	3177353	\N	\N	EFO	5	EFO	process	DNA assay
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001456	"An assay with input DNA" []	4387723	\N	\N	EFO	6	EFO	experimental factor	DNA assay
EFO:0001457	\N	\N	"An assay with input RNA" []	EFO:0001457	"An assay with input RNA" []	64796	\N	\N	EFO	0	EFO	RNA assay	RNA assay
EFO:0002772	EFO:0001457	\N	"" []	EFO:0001457	"An assay with input RNA" []	205448	\N	\N	EFO	1	EFO	assay by molecule	RNA assay
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0001457	"An assay with input RNA" []	558549	\N	\N	EFO	2	EFO	assay	RNA assay
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0001457	"An assay with input RNA" []	1140725	\N	\N	EFO	3	EFO	experimental process	RNA assay
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0001457	"An assay with input RNA" []	2023696	\N	\N	EFO	4	EFO	planned process	RNA assay
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001457	"An assay with input RNA" []	3177354	\N	\N	EFO	5	EFO	process	RNA assay
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001457	"An assay with input RNA" []	4387724	\N	\N	EFO	6	EFO	experimental factor	RNA assay
EFO:0001458	\N	\N	"An assay with input protein" []	EFO:0001458	"An assay with input protein" []	64797	\N	\N	EFO	0	EFO	protein assay	protein assay
EFO:0002772	EFO:0001458	\N	"" []	EFO:0001458	"An assay with input protein" []	205449	\N	\N	EFO	1	EFO	assay by molecule	protein assay
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0001458	"An assay with input protein" []	558550	\N	\N	EFO	2	EFO	assay	protein assay
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0001458	"An assay with input protein" []	1140726	\N	\N	EFO	3	EFO	experimental process	protein assay
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0001458	"An assay with input protein" []	2023697	\N	\N	EFO	4	EFO	planned process	protein assay
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0001458	"An assay with input protein" []	3177355	\N	\N	EFO	5	EFO	process	protein assay
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001458	"An assay with input protein" []	4387725	\N	\N	EFO	6	EFO	experimental factor	protein assay
EFO:0001460	\N	\N	"Uninfected class is a disposition in which the bearer is not known to be affected by a disease withtin the context of a study" []	EFO:0001460	"Uninfected class is a disposition in which the bearer is not known to be affected by a disease withtin the context of a study" []	64798	\N	\N	EFO	0	EFO	uninfected	uninfected
BFO:0000016	EFO:0001460	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001460	"Uninfected class is a disposition in which the bearer is not known to be affected by a disease withtin the context of a study" []	205450	\N	\N	EFO	1	EFO	disposition	uninfected
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001460	"Uninfected class is a disposition in which the bearer is not known to be affected by a disease withtin the context of a study" []	558551	\N	\N	EFO	2	EFO	material property	uninfected
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001460	"Uninfected class is a disposition in which the bearer is not known to be affected by a disease withtin the context of a study" []	1140727	\N	\N	EFO	3	EFO	experimental factor	uninfected
EFO:0001461	\N	\N	"The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another." []	EFO:0001461	"The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another." []	64799	\N	\N	EFO	0	EFO	control	control
BFO:0000023	EFO:0001461	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001461	"The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another." []	205451	\N	\N	EFO	1	EFO	role	control
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001461	"The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another." []	558552	\N	\N	EFO	2	EFO	material property	control
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001461	"The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another." []	1140728	\N	\N	EFO	3	EFO	experimental factor	control
EFO:0001639	\N	\N	"" []	EFO:0001639	"" []	64800	\N	\N	EFO	0	EFO	cancer cell line	cancer cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001639	"" []	205452	\N	\N	EFO	1	EFO	cell line	cancer cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001639	"" []	558553	\N	\N	EFO	2	EFO	material entity	cancer cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001639	"" []	1140729	\N	\N	EFO	3	EFO	experimental factor	cancer cell line
EFO:0001640	\N	\N	"" []	EFO:0001640	"" []	64801	\N	\N	EFO	0	EFO	B cell derived cell line	B cell derived cell line
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001640	"" []	205453	\N	\N	EFO	1	EFO	cell line	B cell derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001640	"" []	558554	\N	\N	EFO	2	EFO	material entity	B cell derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001640	"" []	1140730	\N	\N	EFO	3	EFO	experimental factor	B cell derived cell line
EFO:0001641	\N	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0001641	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	64802	\N	\N	EFO	0	EFO	epithelial cell derived cell line	epithelial cell derived cell line
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001641	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	205454	\N	\N	EFO	1	EFO	cell line	epithelial cell derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001641	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	558555	\N	\N	EFO	2	EFO	material entity	epithelial cell derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001641	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	1140731	\N	\N	EFO	3	EFO	experimental factor	epithelial cell derived cell line
EFO:0001642	\N	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0001642	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	64803	\N	\N	EFO	0	EFO	lymphoid neoplasm	lymphoid neoplasm
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0001642	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	205455	\N	\N	EFO	1	EFO	cancer	lymphoid neoplasm
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0001642	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	205456	\N	\N	EFO	1	EFO	hematological system disease	lymphoid neoplasm
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001642	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	558556	\N	\N	EFO	2	EFO	neoplasm	lymphoid neoplasm
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001642	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	558557	\N	\N	EFO	2	EFO	disease	lymphoid neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001642	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	1140732	\N	\N	EFO	3	EFO	disease	lymphoid neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001642	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	2023698	\N	\N	EFO	4	EFO	disposition	lymphoid neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001642	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	2999317	\N	\N	EFO	5	EFO	material property	lymphoid neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001642	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	4132573	\N	\N	EFO	6	EFO	experimental factor	lymphoid neoplasm
EFO:0001643	\N	\N	"" []	EFO:0001643	"" []	64804	\N	\N	EFO	0	EFO	kidney derived cell line	kidney derived cell line
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001643	"" []	205457	\N	\N	EFO	1	EFO	cell line	kidney derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001643	"" []	558558	\N	\N	EFO	2	EFO	material entity	kidney derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001643	"" []	1140734	\N	\N	EFO	3	EFO	experimental factor	kidney derived cell line
EFO:0001645	\N	\N	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	EFO:0001645	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	64805	\N	\N	EFO	0	EFO	coronary heart disease	coronary heart disease
EFO:0003777	EFO:0001645	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0001645	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	205458	\N	\N	EFO	1	EFO	heart disease	coronary heart disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0001645	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	558559	\N	\N	EFO	2	EFO	cardiovascular disease	coronary heart disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001645	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	1140735	\N	\N	EFO	3	EFO	disease	coronary heart disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001645	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	2023700	\N	\N	EFO	4	EFO	disposition	coronary heart disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001645	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	3177357	\N	\N	EFO	5	EFO	material property	coronary heart disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001645	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	4387726	\N	\N	EFO	6	EFO	experimental factor	coronary heart disease
EFO:0001646	\N	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001646	"An anatomical modifier is a quality which inheres in an organism part." []	64806	\N	\N	EFO	0	EFO	anatomical modifier	anatomical modifier
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001646	"An anatomical modifier is a quality which inheres in an organism part." []	205459	\N	\N	EFO	1	EFO	quality	anatomical modifier
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001646	"An anatomical modifier is a quality which inheres in an organism part." []	558560	\N	\N	EFO	2	EFO	material property	anatomical modifier
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001646	"An anatomical modifier is a quality which inheres in an organism part." []	1140736	\N	\N	EFO	3	EFO	experimental factor	anatomical modifier
EFO:0001647	\N	\N	"A tissue modifier is an anatomical modifier which describes some quality about a tissue." []	EFO:0001647	"A tissue modifier is an anatomical modifier which describes some quality about a tissue." []	64807	\N	\N	EFO	0	EFO	tissue modifier	tissue modifier
EFO:0001646	EFO:0001647	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001647	"A tissue modifier is an anatomical modifier which describes some quality about a tissue." []	205460	\N	\N	EFO	1	EFO	anatomical modifier	tissue modifier
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001647	"A tissue modifier is an anatomical modifier which describes some quality about a tissue." []	558561	\N	\N	EFO	2	EFO	quality	tissue modifier
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001647	"A tissue modifier is an anatomical modifier which describes some quality about a tissue." []	1140737	\N	\N	EFO	3	EFO	material property	tissue modifier
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001647	"A tissue modifier is an anatomical modifier which describes some quality about a tissue." []	2023701	\N	\N	EFO	4	EFO	experimental factor	tissue modifier
EFO:0001648	\N	\N	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	EFO:0001648	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	64808	\N	\N	EFO	0	EFO	geometric modifier	geometric modifier
EFO:0001646	EFO:0001648	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001648	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	205461	\N	\N	EFO	1	EFO	anatomical modifier	geometric modifier
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001648	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	558562	\N	\N	EFO	2	EFO	quality	geometric modifier
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001648	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	1140738	\N	\N	EFO	3	EFO	material property	geometric modifier
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001648	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	2023702	\N	\N	EFO	4	EFO	experimental factor	geometric modifier
EFO:0001650	\N	\N	"A placode is a tissue modifier describing the thickening of embryonic ectoderm from which a definitive structure develops. For example, the cranial placodes." []	EFO:0001650	"A placode is a tissue modifier describing the thickening of embryonic ectoderm from which a definitive structure develops. For example, the cranial placodes." []	64809	\N	\N	EFO	0	EFO	placode	placode
EFO:0001647	EFO:0001650	\N	"A tissue modifier is an anatomical modifier which describes some quality about a tissue." []	EFO:0001650	"A placode is a tissue modifier describing the thickening of embryonic ectoderm from which a definitive structure develops. For example, the cranial placodes." []	205462	\N	\N	EFO	1	EFO	tissue modifier	placode
EFO:0001646	EFO:0001647	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001650	"A placode is a tissue modifier describing the thickening of embryonic ectoderm from which a definitive structure develops. For example, the cranial placodes." []	558563	\N	\N	EFO	2	EFO	anatomical modifier	placode
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001650	"A placode is a tissue modifier describing the thickening of embryonic ectoderm from which a definitive structure develops. For example, the cranial placodes." []	1140739	\N	\N	EFO	3	EFO	quality	placode
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001650	"A placode is a tissue modifier describing the thickening of embryonic ectoderm from which a definitive structure develops. For example, the cranial placodes." []	2023703	\N	\N	EFO	4	EFO	material property	placode
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001650	"A placode is a tissue modifier describing the thickening of embryonic ectoderm from which a definitive structure develops. For example, the cranial placodes." []	3177358	\N	\N	EFO	5	EFO	experimental factor	placode
EFO:0001651	\N	\N	"A precursor is a tissue modifier describing a substance, cell, or cellular component from which another substance, cell, or cellular component is formed. For example, muscle precursor cell." []	EFO:0001651	"A precursor is a tissue modifier describing a substance, cell, or cellular component from which another substance, cell, or cellular component is formed. For example, muscle precursor cell." []	64810	\N	\N	EFO	0	EFO	precursor	precursor
EFO:0001647	EFO:0001651	\N	"A tissue modifier is an anatomical modifier which describes some quality about a tissue." []	EFO:0001651	"A precursor is a tissue modifier describing a substance, cell, or cellular component from which another substance, cell, or cellular component is formed. For example, muscle precursor cell." []	205463	\N	\N	EFO	1	EFO	tissue modifier	precursor
EFO:0001646	EFO:0001647	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001651	"A precursor is a tissue modifier describing a substance, cell, or cellular component from which another substance, cell, or cellular component is formed. For example, muscle precursor cell." []	558564	\N	\N	EFO	2	EFO	anatomical modifier	precursor
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001651	"A precursor is a tissue modifier describing a substance, cell, or cellular component from which another substance, cell, or cellular component is formed. For example, muscle precursor cell." []	1140740	\N	\N	EFO	3	EFO	quality	precursor
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001651	"A precursor is a tissue modifier describing a substance, cell, or cellular component from which another substance, cell, or cellular component is formed. For example, muscle precursor cell." []	2023704	\N	\N	EFO	4	EFO	material property	precursor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001651	"A precursor is a tissue modifier describing a substance, cell, or cellular component from which another substance, cell, or cellular component is formed. For example, muscle precursor cell." []	3177359	\N	\N	EFO	5	EFO	experimental factor	precursor
EFO:0001653	\N	\N	"Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical." []	EFO:0001653	"Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical." []	64811	\N	\N	EFO	0	EFO	apical	apical
EFO:0001648	EFO:0001653	\N	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	EFO:0001653	"Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical." []	205464	\N	\N	EFO	1	EFO	geometric modifier	apical
EFO:0001646	EFO:0001648	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001653	"Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical." []	558565	\N	\N	EFO	2	EFO	anatomical modifier	apical
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001653	"Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical." []	1140741	\N	\N	EFO	3	EFO	quality	apical
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001653	"Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical." []	2023705	\N	\N	EFO	4	EFO	material property	apical
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001653	"Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical." []	3177360	\N	\N	EFO	5	EFO	experimental factor	apical
EFO:0001654	\N	\N	"Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia." []	EFO:0001654	"Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia." []	64812	\N	\N	EFO	0	EFO	basal	basal
EFO:0001648	EFO:0001654	\N	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	EFO:0001654	"Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia." []	205465	\N	\N	EFO	1	EFO	geometric modifier	basal
EFO:0001646	EFO:0001648	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001654	"Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia." []	558566	\N	\N	EFO	2	EFO	anatomical modifier	basal
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001654	"Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia." []	1140742	\N	\N	EFO	3	EFO	quality	basal
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001654	"Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia." []	2023706	\N	\N	EFO	4	EFO	material property	basal
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001654	"Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia." []	3177361	\N	\N	EFO	5	EFO	experimental factor	basal
EFO:0001655	\N	\N	"Distal is a geometric modifier describing the point furthest from the point of attachment to the body or to some point of origin. For example, distal end of femur." []	EFO:0001655	"Distal is a geometric modifier describing the point furthest from the point of attachment to the body or to some point of origin. For example, distal end of femur." []	64813	\N	\N	EFO	0	EFO	distal	distal
EFO:0001648	EFO:0001655	\N	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	EFO:0001655	"Distal is a geometric modifier describing the point furthest from the point of attachment to the body or to some point of origin. For example, distal end of femur." []	205466	\N	\N	EFO	1	EFO	geometric modifier	distal
EFO:0001646	EFO:0001648	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001655	"Distal is a geometric modifier describing the point furthest from the point of attachment to the body or to some point of origin. For example, distal end of femur." []	558567	\N	\N	EFO	2	EFO	anatomical modifier	distal
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001655	"Distal is a geometric modifier describing the point furthest from the point of attachment to the body or to some point of origin. For example, distal end of femur." []	1140743	\N	\N	EFO	3	EFO	quality	distal
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001655	"Distal is a geometric modifier describing the point furthest from the point of attachment to the body or to some point of origin. For example, distal end of femur." []	2023707	\N	\N	EFO	4	EFO	material property	distal
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001655	"Distal is a geometric modifier describing the point furthest from the point of attachment to the body or to some point of origin. For example, distal end of femur." []	3177362	\N	\N	EFO	5	EFO	experimental factor	distal
EFO:0001656	\N	\N	"Dorsal is a geometric modifier describing parts of an organism relating to or situated near or on the back. For example, dorsal fin." []	EFO:0001656	"Dorsal is a geometric modifier describing parts of an organism relating to or situated near or on the back. For example, dorsal fin." []	64814	\N	\N	EFO	0	EFO	dorsal	dorsal
EFO:0001648	EFO:0001656	\N	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	EFO:0001656	"Dorsal is a geometric modifier describing parts of an organism relating to or situated near or on the back. For example, dorsal fin." []	205467	\N	\N	EFO	1	EFO	geometric modifier	dorsal
EFO:0001646	EFO:0001648	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001656	"Dorsal is a geometric modifier describing parts of an organism relating to or situated near or on the back. For example, dorsal fin." []	558568	\N	\N	EFO	2	EFO	anatomical modifier	dorsal
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001656	"Dorsal is a geometric modifier describing parts of an organism relating to or situated near or on the back. For example, dorsal fin." []	1140744	\N	\N	EFO	3	EFO	quality	dorsal
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001656	"Dorsal is a geometric modifier describing parts of an organism relating to or situated near or on the back. For example, dorsal fin." []	2023708	\N	\N	EFO	4	EFO	material property	dorsal
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001656	"Dorsal is a geometric modifier describing parts of an organism relating to or situated near or on the back. For example, dorsal fin." []	3177363	\N	\N	EFO	5	EFO	experimental factor	dorsal
EFO:0001657	\N	\N	"Lateral is a geometric modifier describing something which is of or pertaining to the side." []	EFO:0001657	"Lateral is a geometric modifier describing something which is of or pertaining to the side." []	64815	\N	\N	EFO	0	EFO	lateral	lateral
EFO:0001648	EFO:0001657	\N	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	EFO:0001657	"Lateral is a geometric modifier describing something which is of or pertaining to the side." []	205468	\N	\N	EFO	1	EFO	geometric modifier	lateral
EFO:0001646	EFO:0001648	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001657	"Lateral is a geometric modifier describing something which is of or pertaining to the side." []	558569	\N	\N	EFO	2	EFO	anatomical modifier	lateral
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001657	"Lateral is a geometric modifier describing something which is of or pertaining to the side." []	1140745	\N	\N	EFO	3	EFO	quality	lateral
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001657	"Lateral is a geometric modifier describing something which is of or pertaining to the side." []	2023709	\N	\N	EFO	4	EFO	material property	lateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001657	"Lateral is a geometric modifier describing something which is of or pertaining to the side." []	3177364	\N	\N	EFO	5	EFO	experimental factor	lateral
EFO:0001658	\N	\N	"Left is a geometric modifier describing something which is to the left of the median of an organism or organism part, for example left arm." []	EFO:0001658	"Left is a geometric modifier describing something which is to the left of the median of an organism or organism part, for example left arm." []	64816	\N	\N	EFO	0	EFO	left	left
EFO:0001648	EFO:0001658	\N	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	EFO:0001658	"Left is a geometric modifier describing something which is to the left of the median of an organism or organism part, for example left arm." []	205469	\N	\N	EFO	1	EFO	geometric modifier	left
EFO:0001646	EFO:0001648	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001658	"Left is a geometric modifier describing something which is to the left of the median of an organism or organism part, for example left arm." []	558570	\N	\N	EFO	2	EFO	anatomical modifier	left
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001658	"Left is a geometric modifier describing something which is to the left of the median of an organism or organism part, for example left arm." []	1140746	\N	\N	EFO	3	EFO	quality	left
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001658	"Left is a geometric modifier describing something which is to the left of the median of an organism or organism part, for example left arm." []	2023710	\N	\N	EFO	4	EFO	material property	left
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001658	"Left is a geometric modifier describing something which is to the left of the median of an organism or organism part, for example left arm." []	3177365	\N	\N	EFO	5	EFO	experimental factor	left
EFO:0001659	\N	\N	"Right is a geometric modifier describing something which is to the right of the median of an organism or organism part, for example right arm." []	EFO:0001659	"Right is a geometric modifier describing something which is to the right of the median of an organism or organism part, for example right arm." []	64817	\N	\N	EFO	0	EFO	right	right
EFO:0001648	EFO:0001659	\N	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	EFO:0001659	"Right is a geometric modifier describing something which is to the right of the median of an organism or organism part, for example right arm." []	205470	\N	\N	EFO	1	EFO	geometric modifier	right
EFO:0001646	EFO:0001648	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001659	"Right is a geometric modifier describing something which is to the right of the median of an organism or organism part, for example right arm." []	558571	\N	\N	EFO	2	EFO	anatomical modifier	right
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001659	"Right is a geometric modifier describing something which is to the right of the median of an organism or organism part, for example right arm." []	1140747	\N	\N	EFO	3	EFO	quality	right
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001659	"Right is a geometric modifier describing something which is to the right of the median of an organism or organism part, for example right arm." []	2023711	\N	\N	EFO	4	EFO	material property	right
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001659	"Right is a geometric modifier describing something which is to the right of the median of an organism or organism part, for example right arm." []	3177366	\N	\N	EFO	5	EFO	experimental factor	right
EFO:0001660	\N	\N	"Medial is a geometric modifier describing something which is pertaining to, in or toward the middle, for example medial meniscus." []	EFO:0001660	"Medial is a geometric modifier describing something which is pertaining to, in or toward the middle, for example medial meniscus." []	64818	\N	\N	EFO	0	EFO	medial	medial
EFO:0001648	EFO:0001660	\N	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	EFO:0001660	"Medial is a geometric modifier describing something which is pertaining to, in or toward the middle, for example medial meniscus." []	205471	\N	\N	EFO	1	EFO	geometric modifier	medial
EFO:0001646	EFO:0001648	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001660	"Medial is a geometric modifier describing something which is pertaining to, in or toward the middle, for example medial meniscus." []	558572	\N	\N	EFO	2	EFO	anatomical modifier	medial
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001660	"Medial is a geometric modifier describing something which is pertaining to, in or toward the middle, for example medial meniscus." []	1140748	\N	\N	EFO	3	EFO	quality	medial
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001660	"Medial is a geometric modifier describing something which is pertaining to, in or toward the middle, for example medial meniscus." []	2023712	\N	\N	EFO	4	EFO	material property	medial
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001660	"Medial is a geometric modifier describing something which is pertaining to, in or toward the middle, for example medial meniscus." []	3177367	\N	\N	EFO	5	EFO	experimental factor	medial
EFO:0001661	\N	\N	"Proximal is a geometric modifier describing the point at which an appendage joins the body or the point nearest to some point of origin, for example proximal tibia." []	EFO:0001661	"Proximal is a geometric modifier describing the point at which an appendage joins the body or the point nearest to some point of origin, for example proximal tibia." []	64819	\N	\N	EFO	0	EFO	proximal	proximal
EFO:0001648	EFO:0001661	\N	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	EFO:0001661	"Proximal is a geometric modifier describing the point at which an appendage joins the body or the point nearest to some point of origin, for example proximal tibia." []	205472	\N	\N	EFO	1	EFO	geometric modifier	proximal
EFO:0001646	EFO:0001648	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001661	"Proximal is a geometric modifier describing the point at which an appendage joins the body or the point nearest to some point of origin, for example proximal tibia." []	558573	\N	\N	EFO	2	EFO	anatomical modifier	proximal
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001661	"Proximal is a geometric modifier describing the point at which an appendage joins the body or the point nearest to some point of origin, for example proximal tibia." []	1140749	\N	\N	EFO	3	EFO	quality	proximal
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001661	"Proximal is a geometric modifier describing the point at which an appendage joins the body or the point nearest to some point of origin, for example proximal tibia." []	2023713	\N	\N	EFO	4	EFO	material property	proximal
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001661	"Proximal is a geometric modifier describing the point at which an appendage joins the body or the point nearest to some point of origin, for example proximal tibia." []	3177368	\N	\N	EFO	5	EFO	experimental factor	proximal
EFO:0001662	\N	\N	"Ventral is a geometric modifier describing parts pertaining to the front or anterior of any structure, for example ventral striatum." []	EFO:0001662	"Ventral is a geometric modifier describing parts pertaining to the front or anterior of any structure, for example ventral striatum." []	64820	\N	\N	EFO	0	EFO	ventral	ventral
EFO:0001648	EFO:0001662	\N	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	EFO:0001662	"Ventral is a geometric modifier describing parts pertaining to the front or anterior of any structure, for example ventral striatum." []	205473	\N	\N	EFO	1	EFO	geometric modifier	ventral
EFO:0001646	EFO:0001648	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001662	"Ventral is a geometric modifier describing parts pertaining to the front or anterior of any structure, for example ventral striatum." []	558574	\N	\N	EFO	2	EFO	anatomical modifier	ventral
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001662	"Ventral is a geometric modifier describing parts pertaining to the front or anterior of any structure, for example ventral striatum." []	1140750	\N	\N	EFO	3	EFO	quality	ventral
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001662	"Ventral is a geometric modifier describing parts pertaining to the front or anterior of any structure, for example ventral striatum." []	2023714	\N	\N	EFO	4	EFO	material property	ventral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001662	"Ventral is a geometric modifier describing parts pertaining to the front or anterior of any structure, for example ventral striatum." []	3177369	\N	\N	EFO	5	EFO	experimental factor	ventral
EFO:0001663	\N	\N	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	64821	\N	\N	EFO	0	EFO	prostate carcinoma	prostate carcinoma
EFO:0000313	EFO:0001663	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	205474	\N	\N	EFO	1	EFO	carcinoma	prostate carcinoma
EFO:0000512	EFO:0001663	\N	"any diease of the reproductive system" []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	205475	\N	\N	EFO	1	EFO	reproductive system disease	prostate carcinoma
EFO:0003863	EFO:0001663	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	205476	\N	\N	EFO	1	EFO	urogenital neoplasm	prostate carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	558575	\N	\N	EFO	2	EFO	cancer	prostate carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	558576	\N	\N	EFO	2	EFO	epithelial neoplasm	prostate carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	558577	\N	\N	EFO	2	EFO	disease	prostate carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	558578	\N	\N	EFO	2	EFO	neoplasm	prostate carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	1140751	\N	\N	EFO	3	EFO	neoplasm	prostate carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	1140752	\N	\N	EFO	3	EFO	neoplasm	prostate carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	2999319	\N	\N	EFO	5	EFO	disposition	prostate carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	2023715	\N	\N	EFO	4	EFO	disease	prostate carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	4066680	\N	\N	EFO	6	EFO	material property	prostate carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001663	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	5059316	\N	\N	EFO	7	EFO	experimental factor	prostate carcinoma
EFO:0001666	\N	\N	"protruding sac formed by dilation of the aorta" []	EFO:0001666	"protruding sac formed by dilation of the aorta" []	64822	\N	\N	EFO	0	EFO	aortic aneurysm	aortic aneurysm
EFO:0005775	EFO:0001666	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:0001666	"protruding sac formed by dilation of the aorta" []	205477	\N	\N	EFO	1	EFO	aortic disease	aortic aneurysm
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0001666	"protruding sac formed by dilation of the aorta" []	558579	\N	\N	EFO	2	EFO	vascular disease	aortic aneurysm
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0001666	"protruding sac formed by dilation of the aorta" []	1140755	\N	\N	EFO	3	EFO	cardiovascular disease	aortic aneurysm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001666	"protruding sac formed by dilation of the aorta" []	2023718	\N	\N	EFO	4	EFO	disease	aortic aneurysm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001666	"protruding sac formed by dilation of the aorta" []	3177371	\N	\N	EFO	5	EFO	disposition	aortic aneurysm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001666	"protruding sac formed by dilation of the aorta" []	4387727	\N	\N	EFO	6	EFO	material property	aortic aneurysm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001666	"protruding sac formed by dilation of the aorta" []	5408597	\N	\N	EFO	7	EFO	experimental factor	aortic aneurysm
EFO:0001667	\N	\N	"" []	EFO:0001667	"" []	64823	\N	\N	EFO	0	EFO	CEM/C1	CEM/C1
EFO:0001639	EFO:0001667	\N	"" []	EFO:0001667	"" []	205478	\N	\N	EFO	1	EFO	cancer cell line	CEM/C1
EFO:0002883	EFO:0001667	\N	"Cell lines that are part of the haemopoietic system." []	EFO:0001667	"" []	205479	\N	\N	EFO	1	EFO	haemopoietic system cell line	CEM/C1
EFO:0002888	EFO:0001667	\N	"" []	EFO:0001667	"" []	205480	\N	\N	EFO	1	EFO	Homo sapiens cell line	CEM/C1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001667	"" []	558580	\N	\N	EFO	2	EFO	cell line	CEM/C1
EFO:0000322	EFO:0002883	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001667	"" []	558581	\N	\N	EFO	2	EFO	cell line	CEM/C1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0001667	"" []	558582	\N	\N	EFO	2	EFO	cell line	CEM/C1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001667	"" []	1140756	\N	\N	EFO	3	EFO	material entity	CEM/C1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001667	"" []	2023719	\N	\N	EFO	4	EFO	experimental factor	CEM/C1
EFO:0001668	\N	\N	"A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." []	EFO:0001668	"A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." []	64824	\N	\N	EFO	0	EFO	human papilloma virus infection	human papilloma virus infection
EFO:0000763	EFO:0001668	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0001668	"A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." []	205481	\N	\N	EFO	1	EFO	viral disease	human papilloma virus infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0001668	"A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." []	558583	\N	\N	EFO	2	EFO	infectious disease	human papilloma virus infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001668	"A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." []	1140757	\N	\N	EFO	3	EFO	disease	human papilloma virus infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001668	"A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." []	2023720	\N	\N	EFO	4	EFO	disposition	human papilloma virus infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001668	"A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." []	3177372	\N	\N	EFO	5	EFO	material property	human papilloma virus infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001668	"A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." []	4387728	\N	\N	EFO	6	EFO	experimental factor	human papilloma virus infection
EFO:0001669	\N	\N	"An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system." []	EFO:0001669	"An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system." []	64825	\N	\N	EFO	0	EFO	influenza infection	influenza infection
EFO:0000544	EFO:0001669	\N	"The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism." []	EFO:0001669	"An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system." []	205482	\N	\N	EFO	1	EFO	infection	influenza infection
OBI:1110122	EFO:0000544	\N	"Abnormal, harmful processes caused by or associated with a disease" []	EFO:0001669	"An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system." []	558584	\N	\N	EFO	2	EFO	pathological process	influenza infection
EFO:0001674	\N	\N	"An inactive substance, treatment or procedure that is intended to provide baseline measurements for the experimental protocol of a clinical trial." []	EFO:0001674	"An inactive substance, treatment or procedure that is intended to provide baseline measurements for the experimental protocol of a clinical trial." []	64826	\N	\N	EFO	0	EFO	placebo	placebo
CHEBI:24432	EFO:0001674	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0001674	"An inactive substance, treatment or procedure that is intended to provide baseline measurements for the experimental protocol of a clinical trial." []	205483	\N	\N	EFO	1	EFO	biological role	placebo
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001674	"An inactive substance, treatment or procedure that is intended to provide baseline measurements for the experimental protocol of a clinical trial." []	558585	\N	\N	EFO	2	EFO	role	placebo
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001674	"An inactive substance, treatment or procedure that is intended to provide baseline measurements for the experimental protocol of a clinical trial." []	1140758	\N	\N	EFO	3	EFO	material property	placebo
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001674	"An inactive substance, treatment or procedure that is intended to provide baseline measurements for the experimental protocol of a clinical trial." []	2023721	\N	\N	EFO	4	EFO	experimental factor	placebo
EFO:0001675	\N	\N	"An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." []	EFO:0001675	"An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." []	64827	\N	\N	EFO	0	EFO	simian immunodeficiency virus infection	simian immunodeficiency virus infection
EFO:0000763	EFO:0001675	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0001675	"An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." []	205484	\N	\N	EFO	1	EFO	viral disease	simian immunodeficiency virus infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0001675	"An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." []	558586	\N	\N	EFO	2	EFO	infectious disease	simian immunodeficiency virus infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0001675	"An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." []	1140759	\N	\N	EFO	3	EFO	disease	simian immunodeficiency virus infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0001675	"An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." []	2023722	\N	\N	EFO	4	EFO	disposition	simian immunodeficiency virus infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001675	"An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." []	3177373	\N	\N	EFO	5	EFO	material property	simian immunodeficiency virus infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001675	"An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." []	4387729	\N	\N	EFO	6	EFO	experimental factor	simian immunodeficiency virus infection
EFO:0001695	\N	\N	"Size is a morphology quality which describes a material entity's physical magnitude." []	EFO:0001695	"Size is a morphology quality which describes a material entity's physical magnitude." []	64828	\N	\N	EFO	0	EFO	size	size
PATO:0000051	\N	\N	"A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure." [PATOC:GVG]	EFO:0001695	"Size is a morphology quality which describes a material entity's physical magnitude." []	194507	\N	attribute_slim	EFO	0	EFO	morphology	size
EFO:0001696	\N	\N	"An area is a size quality which describes the two dimensional extent of a material entity." []	EFO:0001696	"An area is a size quality which describes the two dimensional extent of a material entity." []	64829	\N	\N	EFO	0	EFO	area	area
EFO:0001695	EFO:0001696	\N	"Size is a morphology quality which describes a material entity's physical magnitude." []	EFO:0001696	"An area is a size quality which describes the two dimensional extent of a material entity." []	205485	\N	\N	EFO	1	EFO	size	area
EFO:0001702	\N	\N	"Temperature is a physical quality of the thermal energy of a system." []	EFO:0001702	"Temperature is a physical quality of the thermal energy of a system." []	64830	\N	\N	EFO	0	EFO	temperature	temperature
BFO:0000019	EFO:0001702	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001702	"Temperature is a physical quality of the thermal energy of a system." []	205486	\N	\N	EFO	1	EFO	quality	temperature
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001702	"Temperature is a physical quality of the thermal energy of a system." []	558587	\N	\N	EFO	2	EFO	material property	temperature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001702	"Temperature is a physical quality of the thermal energy of a system." []	1140760	\N	\N	EFO	3	EFO	experimental factor	temperature
EFO:0001703	\N	\N	"A dervied mass unit is a derived unit which is a measure of the the amount of matter/energy of a physical object, derived from the base unit for mass." []	EFO:0001703	"A dervied mass unit is a derived unit which is a measure of the the amount of matter/energy of a physical object, derived from the base unit for mass." []	64831	\N	\N	EFO	0	EFO	derived mass unit	derived mass unit
UO:0000046	EFO:0001703	\N	"A unit which is derived from base units." []	EFO:0001703	"A dervied mass unit is a derived unit which is a measure of the the amount of matter/energy of a physical object, derived from the base unit for mass." []	205487	\N	\N	EFO	1	EFO	derived unit	derived mass unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0001703	"A dervied mass unit is a derived unit which is a measure of the the amount of matter/energy of a physical object, derived from the base unit for mass." []	558588	\N	\N	EFO	2	EFO	unit	derived mass unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001703	"A dervied mass unit is a derived unit which is a measure of the the amount of matter/energy of a physical object, derived from the base unit for mass." []	1140761	\N	\N	EFO	3	EFO	information entity	derived mass unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001703	"A dervied mass unit is a derived unit which is a measure of the the amount of matter/energy of a physical object, derived from the base unit for mass." []	2023723	\N	\N	EFO	4	EFO	experimental factor	derived mass unit
EFO:0001715	\N	\N	"A volume is a size quality which describes the amount of 3-dimensional space an object occupies." []	EFO:0001715	"A volume is a size quality which describes the amount of 3-dimensional space an object occupies." []	64832	\N	\N	EFO	0	EFO	volume	volume
EFO:0001695	EFO:0001715	\N	"Size is a morphology quality which describes a material entity's physical magnitude." []	EFO:0001715	"A volume is a size quality which describes the amount of 3-dimensional space an object occupies." []	205488	\N	\N	EFO	1	EFO	size	volume
EFO:0001721	\N	\N	"A femtometer is a length unit which is equal to 1m x 10^-15." []	EFO:0001721	"A femtometer is a length unit which is equal to 1m x 10^-15." []	64833	\N	\N	EFO	0	EFO	femtometer	femtometer
UO:0000001	EFO:0001721	\N	"A unit which is a standard measure of the distance between two points." []	EFO:0001721	"A femtometer is a length unit which is equal to 1m x 10^-15." []	205489	\N	\N	EFO	1	EFO	length unit	femtometer
UO:0000045	UO:0000001	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	EFO:0001721	"A femtometer is a length unit which is equal to 1m x 10^-15." []	558589	\N	\N	EFO	2	EFO	base unit	femtometer
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0001721	"A femtometer is a length unit which is equal to 1m x 10^-15." []	1140762	\N	\N	EFO	3	EFO	unit	femtometer
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001721	"A femtometer is a length unit which is equal to 1m x 10^-15." []	2023724	\N	\N	EFO	4	EFO	information entity	femtometer
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001721	"A femtometer is a length unit which is equal to 1m x 10^-15." []	3177374	\N	\N	EFO	5	EFO	experimental factor	femtometer
EFO:0001728	\N	\N	"" []	EFO:0001728	"" []	64834	\N	\N	EFO	0	EFO	array manufacturer	array manufacturer
EFO:0002012	EFO:0001728	\N	"An organization role is a role which is borne by an organization." []	EFO:0001728	"" []	205490	\N	\N	EFO	1	EFO	organization role	array manufacturer
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001728	"" []	558590	\N	\N	EFO	2	EFO	role	array manufacturer
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001728	"" []	1140763	\N	\N	EFO	3	EFO	material property	array manufacturer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001728	"" []	2023725	\N	\N	EFO	4	EFO	experimental factor	array manufacturer
EFO:0001729	\N	\N	"" []	EFO:0001729	"" []	64835	\N	\N	EFO	0	EFO	biomaterial provider	biomaterial provider
EFO:0002012	EFO:0001729	\N	"An organization role is a role which is borne by an organization." []	EFO:0001729	"" []	205491	\N	\N	EFO	1	EFO	organization role	biomaterial provider
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001729	"" []	558591	\N	\N	EFO	2	EFO	role	biomaterial provider
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001729	"" []	1140764	\N	\N	EFO	3	EFO	material property	biomaterial provider
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001729	"" []	2023726	\N	\N	EFO	4	EFO	experimental factor	biomaterial provider
EFO:0001730	\N	\N	"" []	EFO:0001730	"" []	64836	\N	\N	EFO	0	EFO	biosequence provider	biosequence provider
EFO:0002012	EFO:0001730	\N	"An organization role is a role which is borne by an organization." []	EFO:0001730	"" []	205492	\N	\N	EFO	1	EFO	organization role	biosequence provider
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001730	"" []	558592	\N	\N	EFO	2	EFO	role	biosequence provider
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001730	"" []	1140765	\N	\N	EFO	3	EFO	material property	biosequence provider
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001730	"" []	2023727	\N	\N	EFO	4	EFO	experimental factor	biosequence provider
EFO:0001731	\N	\N	"" []	EFO:0001731	"" []	64837	\N	\N	EFO	0	EFO	consortium member	consortium member
EFO:0002012	EFO:0001731	\N	"An organization role is a role which is borne by an organization." []	EFO:0001731	"" []	205493	\N	\N	EFO	1	EFO	organization role	consortium member
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001731	"" []	558593	\N	\N	EFO	2	EFO	role	consortium member
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001731	"" []	1140766	\N	\N	EFO	3	EFO	material property	consortium member
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001731	"" []	2023728	\N	\N	EFO	4	EFO	experimental factor	consortium member
EFO:0001732	\N	\N	"" []	EFO:0001732	"" []	64838	\N	\N	EFO	0	EFO	consultant	consultant
EFO:0002012	EFO:0001732	\N	"An organization role is a role which is borne by an organization." []	EFO:0001732	"" []	205494	\N	\N	EFO	1	EFO	organization role	consultant
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001732	"" []	558594	\N	\N	EFO	2	EFO	role	consultant
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001732	"" []	1140767	\N	\N	EFO	3	EFO	material property	consultant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001732	"" []	2023729	\N	\N	EFO	4	EFO	experimental factor	consultant
EFO:0001733	\N	\N	"" []	EFO:0001733	"" []	64839	\N	\N	EFO	0	EFO	curator	curator
EFO:0002012	EFO:0001733	\N	"An organization role is a role which is borne by an organization." []	EFO:0001733	"" []	205495	\N	\N	EFO	1	EFO	organization role	curator
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001733	"" []	558595	\N	\N	EFO	2	EFO	role	curator
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001733	"" []	1140768	\N	\N	EFO	3	EFO	material property	curator
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001733	"" []	2023730	\N	\N	EFO	4	EFO	experimental factor	curator
EFO:0001734	\N	\N	"" []	EFO:0001734	"" []	64840	\N	\N	EFO	0	EFO	data analyst	data analyst
EFO:0002012	EFO:0001734	\N	"An organization role is a role which is borne by an organization." []	EFO:0001734	"" []	205496	\N	\N	EFO	1	EFO	organization role	data analyst
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001734	"" []	558596	\N	\N	EFO	2	EFO	role	data analyst
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001734	"" []	1140769	\N	\N	EFO	3	EFO	material property	data analyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001734	"" []	2023731	\N	\N	EFO	4	EFO	experimental factor	data analyst
EFO:0001735	\N	\N	"" []	EFO:0001735	"" []	64841	\N	\N	EFO	0	EFO	data coder	data coder
EFO:0002012	EFO:0001735	\N	"An organization role is a role which is borne by an organization." []	EFO:0001735	"" []	205497	\N	\N	EFO	1	EFO	organization role	data coder
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001735	"" []	558597	\N	\N	EFO	2	EFO	role	data coder
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001735	"" []	1140770	\N	\N	EFO	3	EFO	material property	data coder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001735	"" []	2023732	\N	\N	EFO	4	EFO	experimental factor	data coder
EFO:0001736	\N	\N	"" []	EFO:0001736	"" []	64842	\N	\N	EFO	0	EFO	funder	funder
EFO:0002012	EFO:0001736	\N	"An organization role is a role which is borne by an organization." []	EFO:0001736	"" []	205498	\N	\N	EFO	1	EFO	organization role	funder
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001736	"" []	558598	\N	\N	EFO	2	EFO	role	funder
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001736	"" []	1140771	\N	\N	EFO	3	EFO	material property	funder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001736	"" []	2023733	\N	\N	EFO	4	EFO	experimental factor	funder
EFO:0001737	\N	\N	"" []	EFO:0001737	"" []	64843	\N	\N	EFO	0	EFO	hardware manufacturer	hardware manufacturer
EFO:0002012	EFO:0001737	\N	"An organization role is a role which is borne by an organization." []	EFO:0001737	"" []	205499	\N	\N	EFO	1	EFO	organization role	hardware manufacturer
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001737	"" []	558599	\N	\N	EFO	2	EFO	role	hardware manufacturer
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001737	"" []	1140772	\N	\N	EFO	3	EFO	material property	hardware manufacturer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001737	"" []	2023734	\N	\N	EFO	4	EFO	experimental factor	hardware manufacturer
EFO:0001738	\N	\N	"" []	EFO:0001738	"" []	64844	\N	\N	EFO	0	EFO	institution	institution
EFO:0002012	EFO:0001738	\N	"An organization role is a role which is borne by an organization." []	EFO:0001738	"" []	205500	\N	\N	EFO	1	EFO	organization role	institution
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001738	"" []	558600	\N	\N	EFO	2	EFO	role	institution
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001738	"" []	1140773	\N	\N	EFO	3	EFO	material property	institution
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001738	"" []	2023735	\N	\N	EFO	4	EFO	experimental factor	institution
EFO:0001739	\N	\N	"" []	EFO:0001739	"" []	64845	\N	\N	EFO	0	EFO	investigator	investigator
EFO:0002012	EFO:0001739	\N	"An organization role is a role which is borne by an organization." []	EFO:0001739	"" []	205501	\N	\N	EFO	1	EFO	organization role	investigator
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001739	"" []	558601	\N	\N	EFO	2	EFO	role	investigator
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001739	"" []	1140774	\N	\N	EFO	3	EFO	material property	investigator
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001739	"" []	2023736	\N	\N	EFO	4	EFO	experimental factor	investigator
EFO:0001740	\N	\N	"" []	EFO:0001740	"" []	64846	\N	\N	EFO	0	EFO	software manufacturer	software manufacturer
EFO:0002012	EFO:0001740	\N	"An organization role is a role which is borne by an organization." []	EFO:0001740	"" []	205502	\N	\N	EFO	1	EFO	organization role	software manufacturer
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001740	"" []	558602	\N	\N	EFO	2	EFO	role	software manufacturer
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001740	"" []	1140775	\N	\N	EFO	3	EFO	material property	software manufacturer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001740	"" []	2023737	\N	\N	EFO	4	EFO	experimental factor	software manufacturer
EFO:0001741	\N	\N	"" []	EFO:0001741	"" []	64847	\N	\N	EFO	0	EFO	submitter	submitter
EFO:0002012	EFO:0001741	\N	"An organization role is a role which is borne by an organization." []	EFO:0001741	"" []	205503	\N	\N	EFO	1	EFO	organization role	submitter
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001741	"" []	558603	\N	\N	EFO	2	EFO	role	submitter
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001741	"" []	1140776	\N	\N	EFO	3	EFO	material property	submitter
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001741	"" []	2023738	\N	\N	EFO	4	EFO	experimental factor	submitter
EFO:0001742	\N	\N	"An information entity about the status of a publication describing the experiment." []	EFO:0001742	"An information entity about the status of a publication describing the experiment." []	64848	\N	\N	EFO	0	EFO	publication status	publication status
IAO:0000030	EFO:0001742	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001742	"An information entity about the status of a publication describing the experiment." []	205504	\N	\N	EFO	1	EFO	information entity	publication status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001742	"An information entity about the status of a publication describing the experiment." []	558604	\N	\N	EFO	2	EFO	experimental factor	publication status
EFO:0001743	\N	\N	"A design in which RNA from different cell components is examined." []	EFO:0001743	"A design in which RNA from different cell components is examined." []	64849	\N	\N	EFO	0	EFO	cell component comparison design	cell component comparison design
EFO:0004667	EFO:0001743	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001743	"A design in which RNA from different cell components is examined." []	205505	\N	\N	EFO	1	EFO	biological variation design	cell component comparison design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001743	"A design in which RNA from different cell components is examined." []	558605	\N	\N	EFO	2	EFO	study design	cell component comparison design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001743	"A design in which RNA from different cell components is examined." []	1140777	\N	\N	EFO	3	EFO	protocol	cell component comparison design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001743	"A design in which RNA from different cell components is examined." []	2023739	\N	\N	EFO	4	EFO	information entity	cell component comparison design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001743	"A design in which RNA from different cell components is examined." []	3177375	\N	\N	EFO	5	EFO	experimental factor	cell component comparison design
EFO:0001744	\N	\N	"A cell cycle design study design type is one that assays events that occurs in relation to the cell cycle, which is the period between the formation of a cell, by division of its mother cell and the time when the cell itself divides to form two daughter cells." []	EFO:0001744	"A cell cycle design study design type is one that assays events that occurs in relation to the cell cycle, which is the period between the formation of a cell, by division of its mother cell and the time when the cell itself divides to form two daughter cells." []	64850	\N	\N	EFO	0	EFO	cell cycle design	cell cycle design
EFO:0004667	EFO:0001744	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001744	"A cell cycle design study design type is one that assays events that occurs in relation to the cell cycle, which is the period between the formation of a cell, by division of its mother cell and the time when the cell itself divides to form two daughter cells." []	205506	\N	\N	EFO	1	EFO	biological variation design	cell cycle design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001744	"A cell cycle design study design type is one that assays events that occurs in relation to the cell cycle, which is the period between the formation of a cell, by division of its mother cell and the time when the cell itself divides to form two daughter cells." []	558606	\N	\N	EFO	2	EFO	study design	cell cycle design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001744	"A cell cycle design study design type is one that assays events that occurs in relation to the cell cycle, which is the period between the formation of a cell, by division of its mother cell and the time when the cell itself divides to form two daughter cells." []	1140778	\N	\N	EFO	3	EFO	protocol	cell cycle design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001744	"A cell cycle design study design type is one that assays events that occurs in relation to the cell cycle, which is the period between the formation of a cell, by division of its mother cell and the time when the cell itself divides to form two daughter cells." []	2023740	\N	\N	EFO	4	EFO	information entity	cell cycle design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001744	"A cell cycle design study design type is one that assays events that occurs in relation to the cell cycle, which is the period between the formation of a cell, by division of its mother cell and the time when the cell itself divides to form two daughter cells." []	3177376	\N	\N	EFO	5	EFO	experimental factor	cell cycle design
EFO:0001745	\N	\N	"A cell type study design experiment design type compares cells of different type for example different cell lines." []	EFO:0001745	"A cell type study design experiment design type compares cells of different type for example different cell lines." []	64851	\N	\N	EFO	0	EFO	cell type comparison design	cell type comparison design
EFO:0004667	EFO:0001745	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001745	"A cell type study design experiment design type compares cells of different type for example different cell lines." []	205507	\N	\N	EFO	1	EFO	biological variation design	cell type comparison design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001745	"A cell type study design experiment design type compares cells of different type for example different cell lines." []	558607	\N	\N	EFO	2	EFO	study design	cell type comparison design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001745	"A cell type study design experiment design type compares cells of different type for example different cell lines." []	1140779	\N	\N	EFO	3	EFO	protocol	cell type comparison design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001745	"A cell type study design experiment design type compares cells of different type for example different cell lines." []	2023741	\N	\N	EFO	4	EFO	information entity	cell type comparison design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001745	"A cell type study design experiment design type compares cells of different type for example different cell lines." []	3177377	\N	\N	EFO	5	EFO	experimental factor	cell type comparison design
EFO:0001746	\N	\N	"A development or differentiation study design type assays events associated with development or differentiation or moving through a life cycle. Development applies to organism(s) acquiring a mature state, and differentiation applies to cells acquiring specialized functions." []	EFO:0001746	"A development or differentiation study design type assays events associated with development or differentiation or moving through a life cycle. Development applies to organism(s) acquiring a mature state, and differentiation applies to cells acquiring specialized functions." []	64852	\N	\N	EFO	0	EFO	development or differentiation design	development or differentiation design
EFO:0004667	EFO:0001746	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001746	"A development or differentiation study design type assays events associated with development or differentiation or moving through a life cycle. Development applies to organism(s) acquiring a mature state, and differentiation applies to cells acquiring specialized functions." []	205508	\N	\N	EFO	1	EFO	biological variation design	development or differentiation design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001746	"A development or differentiation study design type assays events associated with development or differentiation or moving through a life cycle. Development applies to organism(s) acquiring a mature state, and differentiation applies to cells acquiring specialized functions." []	558608	\N	\N	EFO	2	EFO	study design	development or differentiation design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001746	"A development or differentiation study design type assays events associated with development or differentiation or moving through a life cycle. Development applies to organism(s) acquiring a mature state, and differentiation applies to cells acquiring specialized functions." []	1140780	\N	\N	EFO	3	EFO	protocol	development or differentiation design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001746	"A development or differentiation study design type assays events associated with development or differentiation or moving through a life cycle. Development applies to organism(s) acquiring a mature state, and differentiation applies to cells acquiring specialized functions." []	2023742	\N	\N	EFO	4	EFO	information entity	development or differentiation design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001746	"A development or differentiation study design type assays events associated with development or differentiation or moving through a life cycle. Development applies to organism(s) acquiring a mature state, and differentiation applies to cells acquiring specialized functions." []	3177378	\N	\N	EFO	5	EFO	experimental factor	development or differentiation design
EFO:0001747	\N	\N	"An imprinting study design type compares differences in genetic imprinting of maternally- and paternally-inherited chromosomes (e.g., due to in vivo differences in chemical modification and/or chromatin structure)." []	EFO:0001747	"An imprinting study design type compares differences in genetic imprinting of maternally- and paternally-inherited chromosomes (e.g., due to in vivo differences in chemical modification and/or chromatin structure)." []	64853	\N	\N	EFO	0	EFO	imprinting design	imprinting design
EFO:0004667	EFO:0001747	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001747	"An imprinting study design type compares differences in genetic imprinting of maternally- and paternally-inherited chromosomes (e.g., due to in vivo differences in chemical modification and/or chromatin structure)." []	205509	\N	\N	EFO	1	EFO	biological variation design	imprinting design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001747	"An imprinting study design type compares differences in genetic imprinting of maternally- and paternally-inherited chromosomes (e.g., due to in vivo differences in chemical modification and/or chromatin structure)." []	558609	\N	\N	EFO	2	EFO	study design	imprinting design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001747	"An imprinting study design type compares differences in genetic imprinting of maternally- and paternally-inherited chromosomes (e.g., due to in vivo differences in chemical modification and/or chromatin structure)." []	1140781	\N	\N	EFO	3	EFO	protocol	imprinting design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001747	"An imprinting study design type compares differences in genetic imprinting of maternally- and paternally-inherited chromosomes (e.g., due to in vivo differences in chemical modification and/or chromatin structure)." []	2023743	\N	\N	EFO	4	EFO	information entity	imprinting design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001747	"An imprinting study design type compares differences in genetic imprinting of maternally- and paternally-inherited chromosomes (e.g., due to in vivo differences in chemical modification and/or chromatin structure)." []	3177379	\N	\N	EFO	5	EFO	experimental factor	imprinting design
EFO:0001748	\N	\N	"A genotype study design type compares genotype, haplotype, or other individual genetic characteristics." []	EFO:0001748	"A genotype study design type compares genotype, haplotype, or other individual genetic characteristics." []	64854	\N	\N	EFO	0	EFO	genotype design	genotype design
EFO:0004667	EFO:0001748	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001748	"A genotype study design type compares genotype, haplotype, or other individual genetic characteristics." []	205510	\N	\N	EFO	1	EFO	biological variation design	genotype design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001748	"A genotype study design type compares genotype, haplotype, or other individual genetic characteristics." []	558610	\N	\N	EFO	2	EFO	study design	genotype design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001748	"A genotype study design type compares genotype, haplotype, or other individual genetic characteristics." []	1140782	\N	\N	EFO	3	EFO	protocol	genotype design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001748	"A genotype study design type compares genotype, haplotype, or other individual genetic characteristics." []	2023744	\N	\N	EFO	4	EFO	information entity	genotype design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001748	"A genotype study design type compares genotype, haplotype, or other individual genetic characteristics." []	3177380	\N	\N	EFO	5	EFO	experimental factor	genotype design
EFO:0001749	\N	\N	"An innate behaviour study design type in which the innate behavior of the organism is examined, e.g. path finding in bees." []	EFO:0001749	"An innate behaviour study design type in which the innate behavior of the organism is examined, e.g. path finding in bees." []	64855	\N	\N	EFO	0	EFO	innate behavior design	innate behavior design
EFO:0004667	EFO:0001749	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001749	"An innate behaviour study design type in which the innate behavior of the organism is examined, e.g. path finding in bees." []	205511	\N	\N	EFO	1	EFO	biological variation design	innate behavior design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001749	"An innate behaviour study design type in which the innate behavior of the organism is examined, e.g. path finding in bees." []	558611	\N	\N	EFO	2	EFO	study design	innate behavior design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001749	"An innate behaviour study design type in which the innate behavior of the organism is examined, e.g. path finding in bees." []	1140783	\N	\N	EFO	3	EFO	protocol	innate behavior design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001749	"An innate behaviour study design type in which the innate behavior of the organism is examined, e.g. path finding in bees." []	2023745	\N	\N	EFO	4	EFO	information entity	innate behavior design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001749	"An innate behaviour study design type in which the innate behavior of the organism is examined, e.g. path finding in bees." []	3177381	\N	\N	EFO	5	EFO	experimental factor	innate behavior design
EFO:0001750	\N	\N	"An organism part comparison study design type compares tissues, regions, organs within or between organisms." []	EFO:0001750	"An organism part comparison study design type compares tissues, regions, organs within or between organisms." []	64856	\N	\N	EFO	0	EFO	organism part comparison design	organism part comparison design
EFO:0004667	EFO:0001750	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001750	"An organism part comparison study design type compares tissues, regions, organs within or between organisms." []	205512	\N	\N	EFO	1	EFO	biological variation design	organism part comparison design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001750	"An organism part comparison study design type compares tissues, regions, organs within or between organisms." []	558612	\N	\N	EFO	2	EFO	study design	organism part comparison design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001750	"An organism part comparison study design type compares tissues, regions, organs within or between organisms." []	1140784	\N	\N	EFO	3	EFO	protocol	organism part comparison design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001750	"An organism part comparison study design type compares tissues, regions, organs within or between organisms." []	2023746	\N	\N	EFO	4	EFO	information entity	organism part comparison design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001750	"An organism part comparison study design type compares tissues, regions, organs within or between organisms." []	3177382	\N	\N	EFO	5	EFO	experimental factor	organism part comparison design
EFO:0001751	\N	\N	"A design that compares samples from live and dead organisms." []	EFO:0001751	"A design that compares samples from live and dead organisms." []	64857	\N	\N	EFO	0	EFO	organism status design	organism status design
EFO:0004667	EFO:0001751	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001751	"A design that compares samples from live and dead organisms." []	205513	\N	\N	EFO	1	EFO	biological variation design	organism status design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001751	"A design that compares samples from live and dead organisms." []	558613	\N	\N	EFO	2	EFO	study design	organism status design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001751	"A design that compares samples from live and dead organisms." []	1140785	\N	\N	EFO	3	EFO	protocol	organism status design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001751	"A design that compares samples from live and dead organisms." []	2023747	\N	\N	EFO	4	EFO	information entity	organism status design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001751	"A design that compares samples from live and dead organisms." []	3177383	\N	\N	EFO	5	EFO	experimental factor	organism status design
EFO:0001752	\N	\N	"A sex study design type assays differences associated with an organism's sex, gender or mating type." []	EFO:0001752	"A sex study design type assays differences associated with an organism's sex, gender or mating type." []	64858	\N	\N	EFO	0	EFO	sex design	sex design
EFO:0004667	EFO:0001752	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001752	"A sex study design type assays differences associated with an organism's sex, gender or mating type." []	205514	\N	\N	EFO	1	EFO	biological variation design	sex design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001752	"A sex study design type assays differences associated with an organism's sex, gender or mating type." []	558614	\N	\N	EFO	2	EFO	study design	sex design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001752	"A sex study design type assays differences associated with an organism's sex, gender or mating type." []	1140786	\N	\N	EFO	3	EFO	protocol	sex design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001752	"A sex study design type assays differences associated with an organism's sex, gender or mating type." []	2023748	\N	\N	EFO	4	EFO	information entity	sex design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001752	"A sex study design type assays differences associated with an organism's sex, gender or mating type." []	3177384	\N	\N	EFO	5	EFO	experimental factor	sex design
EFO:0001753	\N	\N	"A species study design type assays differences between distinct species." []	EFO:0001753	"A species study design type assays differences between distinct species." []	64859	\N	\N	EFO	0	EFO	species design	species design
EFO:0004667	EFO:0001753	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001753	"A species study design type assays differences between distinct species." []	205515	\N	\N	EFO	1	EFO	biological variation design	species design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001753	"A species study design type assays differences between distinct species." []	558615	\N	\N	EFO	2	EFO	study design	species design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001753	"A species study design type assays differences between distinct species." []	1140787	\N	\N	EFO	3	EFO	protocol	species design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001753	"A species study design type assays differences between distinct species." []	2023749	\N	\N	EFO	4	EFO	information entity	species design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001753	"A species study design type assays differences between distinct species." []	3177385	\N	\N	EFO	5	EFO	experimental factor	species design
EFO:0001754	\N	\N	"A strain or line study design type assays differences between multiple strains, cultivars, serovars, isolates, lines from organisms of a single species." []	EFO:0001754	"A strain or line study design type assays differences between multiple strains, cultivars, serovars, isolates, lines from organisms of a single species." []	64860	\N	\N	EFO	0	EFO	strain or line design	strain or line design
EFO:0004667	EFO:0001754	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001754	"A strain or line study design type assays differences between multiple strains, cultivars, serovars, isolates, lines from organisms of a single species." []	205516	\N	\N	EFO	1	EFO	biological variation design	strain or line design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001754	"A strain or line study design type assays differences between multiple strains, cultivars, serovars, isolates, lines from organisms of a single species." []	558616	\N	\N	EFO	2	EFO	study design	strain or line design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001754	"A strain or line study design type assays differences between multiple strains, cultivars, serovars, isolates, lines from organisms of a single species." []	1140788	\N	\N	EFO	3	EFO	protocol	strain or line design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001754	"A strain or line study design type assays differences between multiple strains, cultivars, serovars, isolates, lines from organisms of a single species." []	2023750	\N	\N	EFO	4	EFO	information entity	strain or line design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001754	"A strain or line study design type assays differences between multiple strains, cultivars, serovars, isolates, lines from organisms of a single species." []	3177386	\N	\N	EFO	5	EFO	experimental factor	strain or line design
EFO:0001755	\N	\N	"A compound treatment study design type is where the response to administration of a compound or chemical (including biological compounds such as hormones) is assayed." []	EFO:0001755	"A compound treatment study design type is where the response to administration of a compound or chemical (including biological compounds such as hormones) is assayed." []	64861	\N	\N	EFO	0	EFO	compound treatment design	compound treatment design
EFO:0004667	EFO:0001755	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001755	"A compound treatment study design type is where the response to administration of a compound or chemical (including biological compounds such as hormones) is assayed." []	205517	\N	\N	EFO	1	EFO	biological variation design	compound treatment design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001755	"A compound treatment study design type is where the response to administration of a compound or chemical (including biological compounds such as hormones) is assayed." []	558617	\N	\N	EFO	2	EFO	study design	compound treatment design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001755	"A compound treatment study design type is where the response to administration of a compound or chemical (including biological compounds such as hormones) is assayed." []	1140789	\N	\N	EFO	3	EFO	protocol	compound treatment design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001755	"A compound treatment study design type is where the response to administration of a compound or chemical (including biological compounds such as hormones) is assayed." []	2023751	\N	\N	EFO	4	EFO	information entity	compound treatment design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001755	"A compound treatment study design type is where the response to administration of a compound or chemical (including biological compounds such as hormones) is assayed." []	3177387	\N	\N	EFO	5	EFO	experimental factor	compound treatment design
EFO:0001756	\N	\N	"A disease state study design type in which the pathological condition of a part, organ, or system of an organism is studied. The etiology may be from infection, genetic defect, or environmental stress." []	EFO:0001756	"A disease state study design type in which the pathological condition of a part, organ, or system of an organism is studied. The etiology may be from infection, genetic defect, or environmental stress." []	64862	\N	\N	EFO	0	EFO	disease state design	disease state design
EFO:0004667	EFO:0001756	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001756	"A disease state study design type in which the pathological condition of a part, organ, or system of an organism is studied. The etiology may be from infection, genetic defect, or environmental stress." []	205518	\N	\N	EFO	1	EFO	biological variation design	disease state design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001756	"A disease state study design type in which the pathological condition of a part, organ, or system of an organism is studied. The etiology may be from infection, genetic defect, or environmental stress." []	558618	\N	\N	EFO	2	EFO	study design	disease state design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001756	"A disease state study design type in which the pathological condition of a part, organ, or system of an organism is studied. The etiology may be from infection, genetic defect, or environmental stress." []	1140790	\N	\N	EFO	3	EFO	protocol	disease state design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001756	"A disease state study design type in which the pathological condition of a part, organ, or system of an organism is studied. The etiology may be from infection, genetic defect, or environmental stress." []	2023752	\N	\N	EFO	4	EFO	information entity	disease state design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001756	"A disease state study design type in which the pathological condition of a part, organ, or system of an organism is studied. The etiology may be from infection, genetic defect, or environmental stress." []	3177388	\N	\N	EFO	5	EFO	experimental factor	disease state design
EFO:0001757	\N	\N	"A dose response study design type examines the relationship between the size of the administered dose and the extent of the response of the organism(s)." []	EFO:0001757	"A dose response study design type examines the relationship between the size of the administered dose and the extent of the response of the organism(s)." []	64863	\N	\N	EFO	0	EFO	dose response design	dose response design
EFO:0004667	EFO:0001757	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001757	"A dose response study design type examines the relationship between the size of the administered dose and the extent of the response of the organism(s)." []	205519	\N	\N	EFO	1	EFO	biological variation design	dose response design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001757	"A dose response study design type examines the relationship between the size of the administered dose and the extent of the response of the organism(s)." []	558619	\N	\N	EFO	2	EFO	study design	dose response design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001757	"A dose response study design type examines the relationship between the size of the administered dose and the extent of the response of the organism(s)." []	1140791	\N	\N	EFO	3	EFO	protocol	dose response design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001757	"A dose response study design type examines the relationship between the size of the administered dose and the extent of the response of the organism(s)." []	2023753	\N	\N	EFO	4	EFO	information entity	dose response design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001757	"A dose response study design type examines the relationship between the size of the administered dose and the extent of the response of the organism(s)." []	3177389	\N	\N	EFO	5	EFO	experimental factor	dose response design
EFO:0001758	\N	\N	"A genetic modification study design type is where an organism(s) has had genetic material removed, rearranged, mutagenized or added, such as knock out." []	EFO:0001758	"A genetic modification study design type is where an organism(s) has had genetic material removed, rearranged, mutagenized or added, such as knock out." []	64864	\N	\N	EFO	0	EFO	genetic modification design	genetic modification design
EFO:0004667	EFO:0001758	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001758	"A genetic modification study design type is where an organism(s) has had genetic material removed, rearranged, mutagenized or added, such as knock out." []	205520	\N	\N	EFO	1	EFO	biological variation design	genetic modification design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001758	"A genetic modification study design type is where an organism(s) has had genetic material removed, rearranged, mutagenized or added, such as knock out." []	558620	\N	\N	EFO	2	EFO	study design	genetic modification design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001758	"A genetic modification study design type is where an organism(s) has had genetic material removed, rearranged, mutagenized or added, such as knock out." []	1140792	\N	\N	EFO	3	EFO	protocol	genetic modification design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001758	"A genetic modification study design type is where an organism(s) has had genetic material removed, rearranged, mutagenized or added, such as knock out." []	2023754	\N	\N	EFO	4	EFO	information entity	genetic modification design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001758	"A genetic modification study design type is where an organism(s) has had genetic material removed, rearranged, mutagenized or added, such as knock out." []	3177390	\N	\N	EFO	5	EFO	experimental factor	genetic modification design
EFO:0001759	\N	\N	"A growth condition study design type is where some part of the growth condition is changed for the purposes of the experiment, examples of growth conditions changed are media, temperature, humidity, light, nutrients." []	EFO:0001759	"A growth condition study design type is where some part of the growth condition is changed for the purposes of the experiment, examples of growth conditions changed are media, temperature, humidity, light, nutrients." []	64865	\N	\N	EFO	0	EFO	growth condition design	growth condition design
EFO:0004667	EFO:0001759	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001759	"A growth condition study design type is where some part of the growth condition is changed for the purposes of the experiment, examples of growth conditions changed are media, temperature, humidity, light, nutrients." []	205521	\N	\N	EFO	1	EFO	biological variation design	growth condition design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001759	"A growth condition study design type is where some part of the growth condition is changed for the purposes of the experiment, examples of growth conditions changed are media, temperature, humidity, light, nutrients." []	558621	\N	\N	EFO	2	EFO	study design	growth condition design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001759	"A growth condition study design type is where some part of the growth condition is changed for the purposes of the experiment, examples of growth conditions changed are media, temperature, humidity, light, nutrients." []	1140793	\N	\N	EFO	3	EFO	protocol	growth condition design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001759	"A growth condition study design type is where some part of the growth condition is changed for the purposes of the experiment, examples of growth conditions changed are media, temperature, humidity, light, nutrients." []	2023755	\N	\N	EFO	4	EFO	information entity	growth condition design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001759	"A growth condition study design type is where some part of the growth condition is changed for the purposes of the experiment, examples of growth conditions changed are media, temperature, humidity, light, nutrients." []	3177391	\N	\N	EFO	5	EFO	experimental factor	growth condition design
EFO:0001760	\N	\N	"An injury study design type is where the response of an organism(s) to injury or damage is studied." []	EFO:0001760	"An injury study design type is where the response of an organism(s) to injury or damage is studied." []	64866	\N	\N	EFO	0	EFO	injury design	injury design
EFO:0004667	EFO:0001760	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001760	"An injury study design type is where the response of an organism(s) to injury or damage is studied." []	205522	\N	\N	EFO	1	EFO	biological variation design	injury design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001760	"An injury study design type is where the response of an organism(s) to injury or damage is studied." []	558622	\N	\N	EFO	2	EFO	study design	injury design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001760	"An injury study design type is where the response of an organism(s) to injury or damage is studied." []	1140794	\N	\N	EFO	3	EFO	protocol	injury design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001760	"An injury study design type is where the response of an organism(s) to injury or damage is studied." []	2023756	\N	\N	EFO	4	EFO	information entity	injury design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001760	"An injury study design type is where the response of an organism(s) to injury or damage is studied." []	3177392	\N	\N	EFO	5	EFO	experimental factor	injury design
EFO:0001761	\N	\N	"A pathogenicity study design type is where an infective agent such as a bacterium, virus, protozoan, fungus etc. infects a host organism(s) and the infective agent is assayed." []	EFO:0001761	"A pathogenicity study design type is where an infective agent such as a bacterium, virus, protozoan, fungus etc. infects a host organism(s) and the infective agent is assayed." []	64867	\N	\N	EFO	0	EFO	pathogenicity design	pathogenicity design
EFO:0004667	EFO:0001761	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001761	"A pathogenicity study design type is where an infective agent such as a bacterium, virus, protozoan, fungus etc. infects a host organism(s) and the infective agent is assayed." []	205523	\N	\N	EFO	1	EFO	biological variation design	pathogenicity design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001761	"A pathogenicity study design type is where an infective agent such as a bacterium, virus, protozoan, fungus etc. infects a host organism(s) and the infective agent is assayed." []	558623	\N	\N	EFO	2	EFO	study design	pathogenicity design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001761	"A pathogenicity study design type is where an infective agent such as a bacterium, virus, protozoan, fungus etc. infects a host organism(s) and the infective agent is assayed." []	1140795	\N	\N	EFO	3	EFO	protocol	pathogenicity design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001761	"A pathogenicity study design type is where an infective agent such as a bacterium, virus, protozoan, fungus etc. infects a host organism(s) and the infective agent is assayed." []	2023757	\N	\N	EFO	4	EFO	information entity	pathogenicity design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001761	"A pathogenicity study design type is where an infective agent such as a bacterium, virus, protozoan, fungus etc. infects a host organism(s) and the infective agent is assayed." []	3177393	\N	\N	EFO	5	EFO	experimental factor	pathogenicity design
EFO:0001762	\N	\N	"A stimulus or stress study design type is where the response of an organism(s) to the stress or stimulus is studied, e.g. osmotic stress, heat shock, radiation exposure, behavioral treatment etc." []	EFO:0001762	"A stimulus or stress study design type is where the response of an organism(s) to the stress or stimulus is studied, e.g. osmotic stress, heat shock, radiation exposure, behavioral treatment etc." []	64868	\N	\N	EFO	0	EFO	stimulus or stress design	stimulus or stress design
EFO:0004667	EFO:0001762	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001762	"A stimulus or stress study design type is where the response of an organism(s) to the stress or stimulus is studied, e.g. osmotic stress, heat shock, radiation exposure, behavioral treatment etc." []	205524	\N	\N	EFO	1	EFO	biological variation design	stimulus or stress design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001762	"A stimulus or stress study design type is where the response of an organism(s) to the stress or stimulus is studied, e.g. osmotic stress, heat shock, radiation exposure, behavioral treatment etc." []	558624	\N	\N	EFO	2	EFO	study design	stimulus or stress design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001762	"A stimulus or stress study design type is where the response of an organism(s) to the stress or stimulus is studied, e.g. osmotic stress, heat shock, radiation exposure, behavioral treatment etc." []	1140796	\N	\N	EFO	3	EFO	protocol	stimulus or stress design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001762	"A stimulus or stress study design type is where the response of an organism(s) to the stress or stimulus is studied, e.g. osmotic stress, heat shock, radiation exposure, behavioral treatment etc." []	2023758	\N	\N	EFO	4	EFO	information entity	stimulus or stress design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001762	"A stimulus or stress study design type is where the response of an organism(s) to the stress or stimulus is studied, e.g. osmotic stress, heat shock, radiation exposure, behavioral treatment etc." []	3177394	\N	\N	EFO	5	EFO	experimental factor	stimulus or stress design
EFO:0001763	\N	\N	"An all pairs study design type is where all labeled extracts are compared to every other labeled extract." []	EFO:0001763	"An all pairs study design type is where all labeled extracts are compared to every other labeled extract." []	64869	\N	\N	EFO	0	EFO	all pairs	all pairs
EFO:0004668	EFO:0001763	\N	"Methodological variation study design specific for array technology" []	EFO:0001763	"An all pairs study design type is where all labeled extracts are compared to every other labeled extract." []	205525	\N	\N	EFO	1	EFO	array specific design	all pairs
EFO:0004669	EFO:0004668	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001763	"An all pairs study design type is where all labeled extracts are compared to every other labeled extract." []	558625	\N	\N	EFO	2	EFO	methodological variation design	all pairs
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001763	"An all pairs study design type is where all labeled extracts are compared to every other labeled extract." []	1140797	\N	\N	EFO	3	EFO	study design	all pairs
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001763	"An all pairs study design type is where all labeled extracts are compared to every other labeled extract." []	2023759	\N	\N	EFO	4	EFO	protocol	all pairs
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001763	"An all pairs study design type is where all labeled extracts are compared to every other labeled extract." []	3177395	\N	\N	EFO	5	EFO	information entity	all pairs
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001763	"An all pairs study design type is where all labeled extracts are compared to every other labeled extract." []	4387730	\N	\N	EFO	6	EFO	experimental factor	all pairs
EFO:0001764	\N	\N	"An experiment in which the array platform is compared, e.g. Agilent versus Affy." []	EFO:0001764	"An experiment in which the array platform is compared, e.g. Agilent versus Affy." []	64870	\N	\N	EFO	0	EFO	array platform variation design	array platform variation design
EFO:0004668	EFO:0001764	\N	"Methodological variation study design specific for array technology" []	EFO:0001764	"An experiment in which the array platform is compared, e.g. Agilent versus Affy." []	205526	\N	\N	EFO	1	EFO	array specific design	array platform variation design
EFO:0004669	EFO:0004668	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001764	"An experiment in which the array platform is compared, e.g. Agilent versus Affy." []	558626	\N	\N	EFO	2	EFO	methodological variation design	array platform variation design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001764	"An experiment in which the array platform is compared, e.g. Agilent versus Affy." []	1140798	\N	\N	EFO	3	EFO	study design	array platform variation design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001764	"An experiment in which the array platform is compared, e.g. Agilent versus Affy." []	2023760	\N	\N	EFO	4	EFO	protocol	array platform variation design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001764	"An experiment in which the array platform is compared, e.g. Agilent versus Affy." []	3177396	\N	\N	EFO	5	EFO	information entity	array platform variation design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001764	"An experiment in which the array platform is compared, e.g. Agilent versus Affy." []	4387731	\N	\N	EFO	6	EFO	experimental factor	array platform variation design
EFO:0001765	\N	\N	"A dye swap study design type where the label orientations are reversed. exact synonym: flip dye, dye flip" []	EFO:0001765	"A dye swap study design type where the label orientations are reversed. exact synonym: flip dye, dye flip" []	64871	\N	\N	EFO	0	EFO	dye swap design	dye swap design
EFO:0004668	EFO:0001765	\N	"Methodological variation study design specific for array technology" []	EFO:0001765	"A dye swap study design type where the label orientations are reversed. exact synonym: flip dye, dye flip" []	205527	\N	\N	EFO	1	EFO	array specific design	dye swap design
EFO:0004669	EFO:0004668	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001765	"A dye swap study design type where the label orientations are reversed. exact synonym: flip dye, dye flip" []	558627	\N	\N	EFO	2	EFO	methodological variation design	dye swap design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001765	"A dye swap study design type where the label orientations are reversed. exact synonym: flip dye, dye flip" []	1140799	\N	\N	EFO	3	EFO	study design	dye swap design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001765	"A dye swap study design type where the label orientations are reversed. exact synonym: flip dye, dye flip" []	2023761	\N	\N	EFO	4	EFO	protocol	dye swap design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001765	"A dye swap study design type where the label orientations are reversed. exact synonym: flip dye, dye flip" []	3177397	\N	\N	EFO	5	EFO	information entity	dye swap design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001765	"A dye swap study design type where the label orientations are reversed. exact synonym: flip dye, dye flip" []	4387732	\N	\N	EFO	6	EFO	experimental factor	dye swap design
EFO:0001767	\N	\N	"A hardware variation study design type compares different types of hardware for performance, reproducibility, accuracy and precision." []	EFO:0001767	"A hardware variation study design type compares different types of hardware for performance, reproducibility, accuracy and precision." []	64872	\N	\N	EFO	0	EFO	hardware variation design	hardware variation design
EFO:0004669	EFO:0001767	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001767	"A hardware variation study design type compares different types of hardware for performance, reproducibility, accuracy and precision." []	205528	\N	\N	EFO	1	EFO	methodological variation design	hardware variation design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001767	"A hardware variation study design type compares different types of hardware for performance, reproducibility, accuracy and precision." []	558628	\N	\N	EFO	2	EFO	study design	hardware variation design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001767	"A hardware variation study design type compares different types of hardware for performance, reproducibility, accuracy and precision." []	1140800	\N	\N	EFO	3	EFO	protocol	hardware variation design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001767	"A hardware variation study design type compares different types of hardware for performance, reproducibility, accuracy and precision." []	2023762	\N	\N	EFO	4	EFO	information entity	hardware variation design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001767	"A hardware variation study design type compares different types of hardware for performance, reproducibility, accuracy and precision." []	3177398	\N	\N	EFO	5	EFO	experimental factor	hardware variation design
EFO:0001770	\N	\N	"A loop study design is where labeled extracts are compared in consecutive pairs. synonym: circular design." []	EFO:0001770	"A loop study design is where labeled extracts are compared in consecutive pairs. synonym: circular design." []	64873	\N	\N	EFO	0	EFO	loop design	loop design
EFO:0004668	EFO:0001770	\N	"Methodological variation study design specific for array technology" []	EFO:0001770	"A loop study design is where labeled extracts are compared in consecutive pairs. synonym: circular design." []	205529	\N	\N	EFO	1	EFO	array specific design	loop design
EFO:0004669	EFO:0004668	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001770	"A loop study design is where labeled extracts are compared in consecutive pairs. synonym: circular design." []	558629	\N	\N	EFO	2	EFO	methodological variation design	loop design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001770	"A loop study design is where labeled extracts are compared in consecutive pairs. synonym: circular design." []	1140801	\N	\N	EFO	3	EFO	study design	loop design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001770	"A loop study design is where labeled extracts are compared in consecutive pairs. synonym: circular design." []	2023763	\N	\N	EFO	4	EFO	protocol	loop design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001770	"A loop study design is where labeled extracts are compared in consecutive pairs. synonym: circular design." []	3177399	\N	\N	EFO	5	EFO	information entity	loop design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001770	"A loop study design is where labeled extracts are compared in consecutive pairs. synonym: circular design." []	4387733	\N	\N	EFO	6	EFO	experimental factor	loop design
EFO:0001771	\N	\N	"A normalization testing study design tests different normalization procedures." []	EFO:0001771	"A normalization testing study design tests different normalization procedures." []	64874	\N	\N	EFO	0	EFO	normalization testing design	normalization testing design
EFO:0004669	EFO:0001771	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001771	"A normalization testing study design tests different normalization procedures." []	205530	\N	\N	EFO	1	EFO	methodological variation design	normalization testing design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001771	"A normalization testing study design tests different normalization procedures." []	558630	\N	\N	EFO	2	EFO	study design	normalization testing design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001771	"A normalization testing study design tests different normalization procedures." []	1140802	\N	\N	EFO	3	EFO	protocol	normalization testing design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001771	"A normalization testing study design tests different normalization procedures." []	2023764	\N	\N	EFO	4	EFO	information entity	normalization testing design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001771	"A normalization testing study design tests different normalization procedures." []	3177400	\N	\N	EFO	5	EFO	experimental factor	normalization testing design
EFO:0001772	\N	\N	"An operator variation study design type assesses the operator performance and relation to data consistency and quality." []	EFO:0001772	"An operator variation study design type assesses the operator performance and relation to data consistency and quality." []	64875	\N	\N	EFO	0	EFO	operator variation design	operator variation design
EFO:0004669	EFO:0001772	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001772	"An operator variation study design type assesses the operator performance and relation to data consistency and quality." []	205531	\N	\N	EFO	1	EFO	methodological variation design	operator variation design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001772	"An operator variation study design type assesses the operator performance and relation to data consistency and quality." []	558631	\N	\N	EFO	2	EFO	study design	operator variation design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001772	"An operator variation study design type assesses the operator performance and relation to data consistency and quality." []	1140803	\N	\N	EFO	3	EFO	protocol	operator variation design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001772	"An operator variation study design type assesses the operator performance and relation to data consistency and quality." []	2023765	\N	\N	EFO	4	EFO	information entity	operator variation design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001772	"An operator variation study design type assesses the operator performance and relation to data consistency and quality." []	3177401	\N	\N	EFO	5	EFO	experimental factor	operator variation design
EFO:0001773	\N	\N	"An optimization study design type is where different protocols or protocol parameters are compared." []	EFO:0001773	"An optimization study design type is where different protocols or protocol parameters are compared." []	64876	\N	\N	EFO	0	EFO	optimization design	optimization design
EFO:0004669	EFO:0001773	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001773	"An optimization study design type is where different protocols or protocol parameters are compared." []	205532	\N	\N	EFO	1	EFO	methodological variation design	optimization design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001773	"An optimization study design type is where different protocols or protocol parameters are compared." []	558632	\N	\N	EFO	2	EFO	study design	optimization design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001773	"An optimization study design type is where different protocols or protocol parameters are compared." []	1140804	\N	\N	EFO	3	EFO	protocol	optimization design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001773	"An optimization study design type is where different protocols or protocol parameters are compared." []	2023766	\N	\N	EFO	4	EFO	information entity	optimization design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001773	"An optimization study design type is where different protocols or protocol parameters are compared." []	3177402	\N	\N	EFO	5	EFO	experimental factor	optimization design
EFO:0001774	\N	\N	"A quality control testing study design type is where some aspect of the experiment is quality controlled for the purposes of quality assurance." []	EFO:0001774	"A quality control testing study design type is where some aspect of the experiment is quality controlled for the purposes of quality assurance." []	64877	\N	\N	EFO	0	EFO	quality control testing design	quality control testing design
EFO:0004669	EFO:0001774	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001774	"A quality control testing study design type is where some aspect of the experiment is quality controlled for the purposes of quality assurance." []	205533	\N	\N	EFO	1	EFO	methodological variation design	quality control testing design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001774	"A quality control testing study design type is where some aspect of the experiment is quality controlled for the purposes of quality assurance." []	558633	\N	\N	EFO	2	EFO	study design	quality control testing design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001774	"A quality control testing study design type is where some aspect of the experiment is quality controlled for the purposes of quality assurance." []	1140805	\N	\N	EFO	3	EFO	protocol	quality control testing design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001774	"A quality control testing study design type is where some aspect of the experiment is quality controlled for the purposes of quality assurance." []	2023767	\N	\N	EFO	4	EFO	information entity	quality control testing design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001774	"A quality control testing study design type is where some aspect of the experiment is quality controlled for the purposes of quality assurance." []	3177403	\N	\N	EFO	5	EFO	experimental factor	quality control testing design
EFO:0001775	\N	\N	"A reference study design type is where all samples are compared to a common reference." []	EFO:0001775	"A reference study design type is where all samples are compared to a common reference." []	64878	\N	\N	EFO	0	EFO	reference design	reference design
EFO:0004669	EFO:0001775	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001775	"A reference study design type is where all samples are compared to a common reference." []	205534	\N	\N	EFO	1	EFO	methodological variation design	reference design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001775	"A reference study design type is where all samples are compared to a common reference." []	558634	\N	\N	EFO	2	EFO	study design	reference design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001775	"A reference study design type is where all samples are compared to a common reference." []	1140806	\N	\N	EFO	3	EFO	protocol	reference design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001775	"A reference study design type is where all samples are compared to a common reference." []	2023768	\N	\N	EFO	4	EFO	information entity	reference design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001775	"A reference study design type is where all samples are compared to a common reference." []	3177404	\N	\N	EFO	5	EFO	experimental factor	reference design
EFO:0001776	\N	\N	"A replicate study design type is where a series of replicates are performed to evaluate reproducibility or as a pilot study to determine the appropriate number of replicates for a subsequent experiments." []	EFO:0001776	"A replicate study design type is where a series of replicates are performed to evaluate reproducibility or as a pilot study to determine the appropriate number of replicates for a subsequent experiments." []	64879	\N	\N	EFO	0	EFO	replicate design	replicate design
EFO:0004669	EFO:0001776	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001776	"A replicate study design type is where a series of replicates are performed to evaluate reproducibility or as a pilot study to determine the appropriate number of replicates for a subsequent experiments." []	205535	\N	\N	EFO	1	EFO	methodological variation design	replicate design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001776	"A replicate study design type is where a series of replicates are performed to evaluate reproducibility or as a pilot study to determine the appropriate number of replicates for a subsequent experiments." []	558635	\N	\N	EFO	2	EFO	study design	replicate design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001776	"A replicate study design type is where a series of replicates are performed to evaluate reproducibility or as a pilot study to determine the appropriate number of replicates for a subsequent experiments." []	1140807	\N	\N	EFO	3	EFO	protocol	replicate design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001776	"A replicate study design type is where a series of replicates are performed to evaluate reproducibility or as a pilot study to determine the appropriate number of replicates for a subsequent experiments." []	2023769	\N	\N	EFO	4	EFO	information entity	replicate design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001776	"A replicate study design type is where a series of replicates are performed to evaluate reproducibility or as a pilot study to determine the appropriate number of replicates for a subsequent experiments." []	3177405	\N	\N	EFO	5	EFO	experimental factor	replicate design
EFO:0001777	\N	\N	"A self vs. self study design investigates variance and error estimates in the experimental system, and is where the same extract is compared." []	EFO:0001777	"A self vs. self study design investigates variance and error estimates in the experimental system, and is where the same extract is compared." []	64880	\N	\N	EFO	0	EFO	self vs self design	self vs self design
EFO:0004668	EFO:0001777	\N	"Methodological variation study design specific for array technology" []	EFO:0001777	"A self vs. self study design investigates variance and error estimates in the experimental system, and is where the same extract is compared." []	205536	\N	\N	EFO	1	EFO	array specific design	self vs self design
EFO:0004669	EFO:0004668	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001777	"A self vs. self study design investigates variance and error estimates in the experimental system, and is where the same extract is compared." []	558636	\N	\N	EFO	2	EFO	methodological variation design	self vs self design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001777	"A self vs. self study design investigates variance and error estimates in the experimental system, and is where the same extract is compared." []	1140808	\N	\N	EFO	3	EFO	study design	self vs self design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001777	"A self vs. self study design investigates variance and error estimates in the experimental system, and is where the same extract is compared." []	2023770	\N	\N	EFO	4	EFO	protocol	self vs self design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001777	"A self vs. self study design investigates variance and error estimates in the experimental system, and is where the same extract is compared." []	3177406	\N	\N	EFO	5	EFO	information entity	self vs self design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001777	"A self vs. self study design investigates variance and error estimates in the experimental system, and is where the same extract is compared." []	4387734	\N	\N	EFO	6	EFO	experimental factor	self vs self design
EFO:0001778	\N	\N	"A software variation study design type compares different types of software for performance, accuracy, precision and reproducibility." []	EFO:0001778	"A software variation study design type compares different types of software for performance, accuracy, precision and reproducibility." []	64881	\N	\N	EFO	0	EFO	software variation design	software variation design
EFO:0004669	EFO:0001778	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0001778	"A software variation study design type compares different types of software for performance, accuracy, precision and reproducibility." []	205537	\N	\N	EFO	1	EFO	methodological variation design	software variation design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001778	"A software variation study design type compares different types of software for performance, accuracy, precision and reproducibility." []	558637	\N	\N	EFO	2	EFO	study design	software variation design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001778	"A software variation study design type compares different types of software for performance, accuracy, precision and reproducibility." []	1140809	\N	\N	EFO	3	EFO	protocol	software variation design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001778	"A software variation study design type compares different types of software for performance, accuracy, precision and reproducibility." []	2023771	\N	\N	EFO	4	EFO	information entity	software variation design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001778	"A software variation study design type compares different types of software for performance, accuracy, precision and reproducibility." []	3177407	\N	\N	EFO	5	EFO	experimental factor	software variation design
EFO:0001779	\N	\N	"A time series study design type examines groups of assays that are related as part of a time series." []	EFO:0001779	"A time series study design type examines groups of assays that are related as part of a time series." []	64882	\N	\N	EFO	0	EFO	time series design	time series design
EFO:0004667	EFO:0001779	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001779	"A time series study design type examines groups of assays that are related as part of a time series." []	205538	\N	\N	EFO	1	EFO	biological variation design	time series design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001779	"A time series study design type examines groups of assays that are related as part of a time series." []	558638	\N	\N	EFO	2	EFO	study design	time series design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001779	"A time series study design type examines groups of assays that are related as part of a time series." []	1140810	\N	\N	EFO	3	EFO	protocol	time series design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001779	"A time series study design type examines groups of assays that are related as part of a time series." []	2023772	\N	\N	EFO	4	EFO	information entity	time series design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001779	"A time series study design type examines groups of assays that are related as part of a time series." []	3177408	\N	\N	EFO	5	EFO	experimental factor	time series design
EFO:0001780	\N	\N	"A clinical history study design type is where the organisms clinical history of diagnosis, treatments, e.g. vaccinations, surgery etc. is studied." []	EFO:0001780	"A clinical history study design type is where the organisms clinical history of diagnosis, treatments, e.g. vaccinations, surgery etc. is studied." []	64883	\N	\N	EFO	0	EFO	clinical history design	clinical history design
EFO:0004667	EFO:0001780	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001780	"A clinical history study design type is where the organisms clinical history of diagnosis, treatments, e.g. vaccinations, surgery etc. is studied." []	205539	\N	\N	EFO	1	EFO	biological variation design	clinical history design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001780	"A clinical history study design type is where the organisms clinical history of diagnosis, treatments, e.g. vaccinations, surgery etc. is studied." []	558639	\N	\N	EFO	2	EFO	study design	clinical history design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001780	"A clinical history study design type is where the organisms clinical history of diagnosis, treatments, e.g. vaccinations, surgery etc. is studied." []	1140811	\N	\N	EFO	3	EFO	protocol	clinical history design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001780	"A clinical history study design type is where the organisms clinical history of diagnosis, treatments, e.g. vaccinations, surgery etc. is studied." []	2023773	\N	\N	EFO	4	EFO	information entity	clinical history design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001780	"A clinical history study design type is where the organisms clinical history of diagnosis, treatments, e.g. vaccinations, surgery etc. is studied." []	3177409	\N	\N	EFO	5	EFO	experimental factor	clinical history design
EFO:0001783	\N	\N	"A RNA stability study design type examines the stability and/or decay of RNA transcripts." []	EFO:0001783	"A RNA stability study design type examines the stability and/or decay of RNA transcripts." []	64884	\N	\N	EFO	0	EFO	RNA stability design	RNA stability design
EFO:0004667	EFO:0001783	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0001783	"A RNA stability study design type examines the stability and/or decay of RNA transcripts." []	205540	\N	\N	EFO	1	EFO	biological variation design	RNA stability design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001783	"A RNA stability study design type examines the stability and/or decay of RNA transcripts." []	558640	\N	\N	EFO	2	EFO	study design	RNA stability design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001783	"A RNA stability study design type examines the stability and/or decay of RNA transcripts." []	1140812	\N	\N	EFO	3	EFO	protocol	RNA stability design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001783	"A RNA stability study design type examines the stability and/or decay of RNA transcripts." []	2023774	\N	\N	EFO	4	EFO	information entity	RNA stability design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001783	"A RNA stability study design type examines the stability and/or decay of RNA transcripts." []	3177410	\N	\N	EFO	5	EFO	experimental factor	RNA stability design
EFO:0001784	\N	\N	"A genotyping experiment design type classifies an individual or group of individuals on the basis of alleles, haplotypes, SNP's." []	EFO:0001784	"A genotyping experiment design type classifies an individual or group of individuals on the basis of alleles, haplotypes, SNP's." []	64885	\N	\N	EFO	0	EFO	genotyping design	genotyping design
EFO:0004665	EFO:0001784	\N	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	EFO:0001784	"A genotyping experiment design type classifies an individual or group of individuals on the basis of alleles, haplotypes, SNP's." []	205541	\N	\N	EFO	1	EFO	biomolecular annotation design	genotyping design
EFO:0001426	EFO:0004665	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001784	"A genotyping experiment design type classifies an individual or group of individuals on the basis of alleles, haplotypes, SNP's." []	558641	\N	\N	EFO	2	EFO	study design	genotyping design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001784	"A genotyping experiment design type classifies an individual or group of individuals on the basis of alleles, haplotypes, SNP's." []	1140813	\N	\N	EFO	3	EFO	protocol	genotyping design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001784	"A genotyping experiment design type classifies an individual or group of individuals on the basis of alleles, haplotypes, SNP's." []	2023775	\N	\N	EFO	4	EFO	information entity	genotyping design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001784	"A genotyping experiment design type classifies an individual or group of individuals on the basis of alleles, haplotypes, SNP's." []	3177411	\N	\N	EFO	5	EFO	experimental factor	genotyping design
EFO:0001785	\N	\N	"An operon identification experiment type is designed to identify locations and members of operons in a genome." []	EFO:0001785	"An operon identification experiment type is designed to identify locations and members of operons in a genome." []	64886	\N	\N	EFO	0	EFO	operon identification design	operon identification design
EFO:0004665	EFO:0001785	\N	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	EFO:0001785	"An operon identification experiment type is designed to identify locations and members of operons in a genome." []	205542	\N	\N	EFO	1	EFO	biomolecular annotation design	operon identification design
EFO:0001426	EFO:0004665	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001785	"An operon identification experiment type is designed to identify locations and members of operons in a genome." []	558642	\N	\N	EFO	2	EFO	study design	operon identification design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001785	"An operon identification experiment type is designed to identify locations and members of operons in a genome." []	1140814	\N	\N	EFO	3	EFO	protocol	operon identification design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001785	"An operon identification experiment type is designed to identify locations and members of operons in a genome." []	2023776	\N	\N	EFO	4	EFO	information entity	operon identification design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001785	"An operon identification experiment type is designed to identify locations and members of operons in a genome." []	3177412	\N	\N	EFO	5	EFO	experimental factor	operon identification design
EFO:0001786	\N	\N	"A secreted protein identification design type identifies transcripts associated with a secretory pathway during translation and is used to infer which proteins are secreted or membrane bound." []	EFO:0001786	"A secreted protein identification design type identifies transcripts associated with a secretory pathway during translation and is used to infer which proteins are secreted or membrane bound." []	64887	\N	\N	EFO	0	EFO	secreted protein identification design	secreted protein identification design
EFO:0004665	EFO:0001786	\N	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	EFO:0001786	"A secreted protein identification design type identifies transcripts associated with a secretory pathway during translation and is used to infer which proteins are secreted or membrane bound." []	205543	\N	\N	EFO	1	EFO	biomolecular annotation design	secreted protein identification design
EFO:0001426	EFO:0004665	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001786	"A secreted protein identification design type identifies transcripts associated with a secretory pathway during translation and is used to infer which proteins are secreted or membrane bound." []	558643	\N	\N	EFO	2	EFO	study design	secreted protein identification design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001786	"A secreted protein identification design type identifies transcripts associated with a secretory pathway during translation and is used to infer which proteins are secreted or membrane bound." []	1140815	\N	\N	EFO	3	EFO	protocol	secreted protein identification design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001786	"A secreted protein identification design type identifies transcripts associated with a secretory pathway during translation and is used to infer which proteins are secreted or membrane bound." []	2023777	\N	\N	EFO	4	EFO	information entity	secreted protein identification design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001786	"A secreted protein identification design type identifies transcripts associated with a secretory pathway during translation and is used to infer which proteins are secreted or membrane bound." []	3177413	\N	\N	EFO	5	EFO	experimental factor	secreted protein identification design
EFO:0001787	\N	\N	"A translational bias is an experiment design which characterizes the association of transcripts and translation machinery." []	EFO:0001787	"A translational bias is an experiment design which characterizes the association of transcripts and translation machinery." []	64888	\N	\N	EFO	0	EFO	translational bias design	translational bias design
EFO:0004665	EFO:0001787	\N	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	EFO:0001787	"A translational bias is an experiment design which characterizes the association of transcripts and translation machinery." []	205544	\N	\N	EFO	1	EFO	biomolecular annotation design	translational bias design
EFO:0001426	EFO:0004665	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0001787	"A translational bias is an experiment design which characterizes the association of transcripts and translation machinery." []	558644	\N	\N	EFO	2	EFO	study design	translational bias design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0001787	"A translational bias is an experiment design which characterizes the association of transcripts and translation machinery." []	1140816	\N	\N	EFO	3	EFO	protocol	translational bias design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001787	"A translational bias is an experiment design which characterizes the association of transcripts and translation machinery." []	2023778	\N	\N	EFO	4	EFO	information entity	translational bias design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001787	"A translational bias is an experiment design which characterizes the association of transcripts and translation machinery." []	3177414	\N	\N	EFO	5	EFO	experimental factor	translational bias design
EFO:0001794	\N	\N	"Publication submitted to a journal for publication." []	EFO:0001794	"Publication submitted to a journal for publication." []	64889	\N	\N	EFO	0	EFO	submitted	submitted
EFO:0001742	EFO:0001794	\N	"An information entity about the status of a publication describing the experiment." []	EFO:0001794	"Publication submitted to a journal for publication." []	205545	\N	\N	EFO	1	EFO	publication status	submitted
IAO:0000030	EFO:0001742	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001794	"Publication submitted to a journal for publication." []	558645	\N	\N	EFO	2	EFO	information entity	submitted
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001794	"Publication submitted to a journal for publication." []	1140817	\N	\N	EFO	3	EFO	experimental factor	submitted
EFO:0001795	\N	\N	"Publication in preparation before submitting to a journal." []	EFO:0001795	"Publication in preparation before submitting to a journal." []	64890	\N	\N	EFO	0	EFO	in preparation	in preparation
EFO:0001742	EFO:0001795	\N	"An information entity about the status of a publication describing the experiment." []	EFO:0001795	"Publication in preparation before submitting to a journal." []	205546	\N	\N	EFO	1	EFO	publication status	in preparation
IAO:0000030	EFO:0001742	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001795	"Publication in preparation before submitting to a journal." []	558646	\N	\N	EFO	2	EFO	information entity	in preparation
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001795	"Publication in preparation before submitting to a journal." []	1140818	\N	\N	EFO	3	EFO	experimental factor	in preparation
EFO:0001796	\N	\N	"Publication published in a journal." []	EFO:0001796	"Publication published in a journal." []	64891	\N	\N	EFO	0	EFO	published	published
EFO:0001742	EFO:0001796	\N	"An information entity about the status of a publication describing the experiment." []	EFO:0001796	"Publication published in a journal." []	205547	\N	\N	EFO	1	EFO	publication status	published
IAO:0000030	EFO:0001742	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0001796	"Publication published in a journal." []	558647	\N	\N	EFO	2	EFO	information entity	published
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001796	"Publication published in a journal." []	1140819	\N	\N	EFO	3	EFO	experimental factor	published
EFO:0001799	\N	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0001799	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	64892	\N	\N	EFO	0	EFO	ethnic group	ethnic group
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0001799	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	205548	\N	\N	EFO	1	EFO	population	ethnic group
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001799	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	558648	\N	\N	EFO	2	EFO	material entity	ethnic group
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001799	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	1140820	\N	\N	EFO	3	EFO	experimental factor	ethnic group
EFO:0001824	\N	\N	"" []	EFO:0001824	"" []	64893	\N	\N	EFO	0	EFO	hormone role	hormone role
CHEBI:24432	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0001824	"" []	205549	\N	\N	EFO	1	EFO	biological role	hormone role
CHEBI:51086	EFO:0001824	\N	"A role played by the molecular entity or part thereof within a chemical context." []	EFO:0001824	"" []	205550	\N	\N	EFO	1	EFO	chemical role	hormone role
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001824	"" []	558649	\N	\N	EFO	2	EFO	role	hormone role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001824	"" []	558650	\N	\N	EFO	2	EFO	role	hormone role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001824	"" []	1140821	\N	\N	EFO	3	EFO	material property	hormone role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001824	"" []	2023779	\N	\N	EFO	4	EFO	experimental factor	hormone role
EFO:0001899	\N	\N	"" []	EFO:0001899	"" []	64894	\N	\N	EFO	0	EFO	drug role	drug role
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	EFO:0001899	"" []	205551	\N	\N	EFO	1	EFO	chemical role	drug role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0001899	"" []	558651	\N	\N	EFO	2	EFO	role	drug role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001899	"" []	1140822	\N	\N	EFO	3	EFO	material property	drug role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001899	"" []	2023780	\N	\N	EFO	4	EFO	experimental factor	drug role
EFO:0001901	\N	\N	"Existing or growing in the air rather than in the ground or in water." []	EFO:0001901	"Existing or growing in the air rather than in the ground or in water." []	64895	\N	\N	EFO	0	EFO	aerial part	aerial part
EFO:0001647	EFO:0001901	\N	"A tissue modifier is an anatomical modifier which describes some quality about a tissue." []	EFO:0001901	"Existing or growing in the air rather than in the ground or in water." []	205552	\N	\N	EFO	1	EFO	tissue modifier	aerial part
EFO:0001646	EFO:0001647	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001901	"Existing or growing in the air rather than in the ground or in water." []	558652	\N	\N	EFO	2	EFO	anatomical modifier	aerial part
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001901	"Existing or growing in the air rather than in the ground or in water." []	1140823	\N	\N	EFO	3	EFO	quality	aerial part
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001901	"Existing or growing in the air rather than in the ground or in water." []	2023781	\N	\N	EFO	4	EFO	material property	aerial part
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001901	"Existing or growing in the air rather than in the ground or in water." []	3177415	\N	\N	EFO	5	EFO	experimental factor	aerial part
EFO:0001903	\N	\N	"" []	EFO:0001903	"" []	64896	\N	\N	EFO	0	EFO	nervous system developmental tissue	nervous system developmental tissue
EFO:0000795	EFO:0001903	\N	"Embryonic structure (body structure)" []	EFO:0001903	"" []	205553	\N	\N	EFO	1	EFO	animal developmental tissue	nervous system developmental tissue
EFO:0000787	EFO:0000795	\N	"" []	EFO:0001903	"" []	558653	\N	\N	EFO	2	EFO	animal component	nervous system developmental tissue
EFO:0000786	EFO:0000787	\N	"" []	EFO:0001903	"" []	1140824	\N	\N	EFO	3	EFO	anatomy basic component	nervous system developmental tissue
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001903	"" []	2023782	\N	\N	EFO	4	EFO	organism part	nervous system developmental tissue
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001903	"" []	3177416	\N	\N	EFO	5	EFO	material entity	nervous system developmental tissue
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001903	"" []	4387735	\N	\N	EFO	6	EFO	experimental factor	nervous system developmental tissue
EFO:0001907	\N	\N	"Dorsal skin is a skin found at the dorsal area of an animal." []	EFO:0001907	"Dorsal skin is a skin found at the dorsal area of an animal." []	64897	\N	\N	EFO	0	EFO	dorsal skin	dorsal skin
UBERON:0000014	EFO:0001907	\N	"The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers." []	EFO:0001907	"Dorsal skin is a skin found at the dorsal area of an animal." []	205554	\N	\N	EFO	1	EFO	zone of skin {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	dorsal skin
EFO:0000787	UBERON:0000014	\N	"" []	EFO:0001907	"Dorsal skin is a skin found at the dorsal area of an animal." []	558654	\N	\N	EFO	2	EFO	animal component	dorsal skin
EFO:0000786	EFO:0000787	\N	"" []	EFO:0001907	"Dorsal skin is a skin found at the dorsal area of an animal." []	1140825	\N	\N	EFO	3	EFO	anatomy basic component	dorsal skin
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001907	"Dorsal skin is a skin found at the dorsal area of an animal." []	2023783	\N	\N	EFO	4	EFO	organism part	dorsal skin
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001907	"Dorsal skin is a skin found at the dorsal area of an animal." []	3177417	\N	\N	EFO	5	EFO	material entity	dorsal skin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001907	"Dorsal skin is a skin found at the dorsal area of an animal." []	4387736	\N	\N	EFO	6	EFO	experimental factor	dorsal skin
EFO:0001908	\N	\N	"Caudal is a geometric modifier which indicates a position towards the tail." []	EFO:0001908	"Caudal is a geometric modifier which indicates a position towards the tail." []	64898	\N	\N	EFO	0	EFO	caudal	caudal
EFO:0001648	EFO:0001908	\N	"A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part." []	EFO:0001908	"Caudal is a geometric modifier which indicates a position towards the tail." []	205555	\N	\N	EFO	1	EFO	geometric modifier	caudal
EFO:0001646	EFO:0001648	\N	"An anatomical modifier is a quality which inheres in an organism part." []	EFO:0001908	"Caudal is a geometric modifier which indicates a position towards the tail." []	558655	\N	\N	EFO	2	EFO	anatomical modifier	caudal
BFO:0000019	EFO:0001646	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0001908	"Caudal is a geometric modifier which indicates a position towards the tail." []	1140826	\N	\N	EFO	3	EFO	quality	caudal
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0001908	"Caudal is a geometric modifier which indicates a position towards the tail." []	2023784	\N	\N	EFO	4	EFO	material property	caudal
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001908	"Caudal is a geometric modifier which indicates a position towards the tail." []	3177418	\N	\N	EFO	5	EFO	experimental factor	caudal
EFO:0001910	\N	\N	"A brain structure developmental tissue is a nervous system developmental tissue from which mature, fully developed brain structures will emerge during growth of an organism." []	EFO:0001910	"A brain structure developmental tissue is a nervous system developmental tissue from which mature, fully developed brain structures will emerge during growth of an organism." []	64899	\N	\N	EFO	0	EFO	brain structure developmental tissue	brain structure developmental tissue
EFO:0001903	EFO:0001910	\N	"" []	EFO:0001910	"A brain structure developmental tissue is a nervous system developmental tissue from which mature, fully developed brain structures will emerge during growth of an organism." []	205556	\N	\N	EFO	1	EFO	nervous system developmental tissue	brain structure developmental tissue
EFO:0000795	EFO:0001903	\N	"Embryonic structure (body structure)" []	EFO:0001910	"A brain structure developmental tissue is a nervous system developmental tissue from which mature, fully developed brain structures will emerge during growth of an organism." []	558656	\N	\N	EFO	2	EFO	animal developmental tissue	brain structure developmental tissue
EFO:0000787	EFO:0000795	\N	"" []	EFO:0001910	"A brain structure developmental tissue is a nervous system developmental tissue from which mature, fully developed brain structures will emerge during growth of an organism." []	1140827	\N	\N	EFO	3	EFO	animal component	brain structure developmental tissue
EFO:0000786	EFO:0000787	\N	"" []	EFO:0001910	"A brain structure developmental tissue is a nervous system developmental tissue from which mature, fully developed brain structures will emerge during growth of an organism." []	2023785	\N	\N	EFO	4	EFO	anatomy basic component	brain structure developmental tissue
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001910	"A brain structure developmental tissue is a nervous system developmental tissue from which mature, fully developed brain structures will emerge during growth of an organism." []	3177419	\N	\N	EFO	5	EFO	organism part	brain structure developmental tissue
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001910	"A brain structure developmental tissue is a nervous system developmental tissue from which mature, fully developed brain structures will emerge during growth of an organism." []	4387737	\N	\N	EFO	6	EFO	material entity	brain structure developmental tissue
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001910	"A brain structure developmental tissue is a nervous system developmental tissue from which mature, fully developed brain structures will emerge during growth of an organism." []	5408598	\N	\N	EFO	7	EFO	experimental factor	brain structure developmental tissue
EFO:0001941	\N	\N	"" []	EFO:0001941	"" []	64900	\N	\N	EFO	0	EFO	blood component	blood component
UBERON:0002390	EFO:0001941	\N	"Anatomical system that is involved in the production of hematopoietic cells. [ Haematopoiesis ] " []	EFO:0001941	"" []	205557	\N	\N	EFO	1	EFO	hematopoietic system	blood component
UBERON:0000467	UBERON:0002390	\N	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	EFO:0001941	"" []	558657	\N	\N	EFO	2	EFO	anatomical system	blood component
EFO:0000787	UBERON:0000467	\N	"" []	EFO:0001941	"" []	1140828	\N	\N	EFO	3	EFO	animal component	blood component
EFO:0000786	EFO:0000787	\N	"" []	EFO:0001941	"" []	2023786	\N	\N	EFO	4	EFO	anatomy basic component	blood component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001941	"" []	3177420	\N	\N	EFO	5	EFO	organism part	blood component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001941	"" []	4387738	\N	\N	EFO	6	EFO	material entity	blood component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001941	"" []	5408599	\N	\N	EFO	7	EFO	experimental factor	blood component
EFO:0001948	\N	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	EFO:0001948	"A shoot component is a plant component which is specifically part of a plant shoot." []	64901	\N	\N	EFO	0	EFO	shoot component	shoot component
EFO:0000789	EFO:0001948	\N	"" []	EFO:0001948	"A shoot component is a plant component which is specifically part of a plant shoot." []	205558	\N	\N	EFO	1	EFO	plant component	shoot component
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001948	"A shoot component is a plant component which is specifically part of a plant shoot." []	205559	\N	\N	EFO	1	EFO	plant anatomical entity	shoot component
EFO:0000786	EFO:0000789	\N	"" []	EFO:0001948	"A shoot component is a plant component which is specifically part of a plant shoot." []	558658	\N	\N	EFO	2	EFO	anatomy basic component	shoot component
EFO:0000786	PO:0025131	\N	"" []	EFO:0001948	"A shoot component is a plant component which is specifically part of a plant shoot." []	558659	\N	\N	EFO	2	EFO	anatomy basic component	shoot component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001948	"A shoot component is a plant component which is specifically part of a plant shoot." []	1140829	\N	\N	EFO	3	EFO	organism part	shoot component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001948	"A shoot component is a plant component which is specifically part of a plant shoot." []	2023787	\N	\N	EFO	4	EFO	material entity	shoot component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001948	"A shoot component is a plant component which is specifically part of a plant shoot." []	3177421	\N	\N	EFO	5	EFO	experimental factor	shoot component
EFO:0001954	\N	\N	"" []	EFO:0001954	"" []	64902	\N	\N	EFO	0	EFO	division of carotid artery	division of carotid artery
UBERON:0001637	\N	\N	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	EFO:0001954	"" []	194508	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	artery	division of carotid artery
EFO:0001955	\N	\N	"A heart component is an animal component that is part of some heart." []	EFO:0001955	"A heart component is an animal component that is part of some heart." []	64903	\N	\N	EFO	0	EFO	heart component	heart component
UBERON:0004535	\N	\N	"Anatomical system that has as its parts the heart and blood vessels." [BTO:0000088]	EFO:0001955	"A heart component is an animal component that is part of some heart." []	194509	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	cardiovascular system	heart component
EFO:0001958	\N	\N	"" []	EFO:0001958	"" []	64904	\N	\N	EFO	0	EFO	joint component	joint component
EFO:0003858	EFO:0001958	\N	"" []	EFO:0001958	"" []	205560	\N	\N	EFO	1	EFO	skeleton structure	joint component
EFO:0000787	EFO:0003858	\N	"" []	EFO:0001958	"" []	558660	\N	\N	EFO	2	EFO	animal component	joint component
EFO:0000786	EFO:0000787	\N	"" []	EFO:0001958	"" []	1140830	\N	\N	EFO	3	EFO	anatomy basic component	joint component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001958	"" []	2023788	\N	\N	EFO	4	EFO	organism part	joint component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001958	"" []	3177422	\N	\N	EFO	5	EFO	material entity	joint component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001958	"" []	4387739	\N	\N	EFO	6	EFO	experimental factor	joint component
EFO:0001967	\N	\N	"" []	EFO:0001967	"" []	64905	\N	\N	EFO	0	EFO	medial collateral ligament	medial collateral ligament
UBERON:0000211	\N	\N	"Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, VSAO:0000073]	EFO:0001967	"" []	194510	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	ligament	medial collateral ligament
EFO:0003858	EFO:0001967	\N	"" []	EFO:0001967	"" []	205561	\N	\N	EFO	1	EFO	skeleton structure	medial collateral ligament
EFO:0000787	EFO:0003858	\N	"" []	EFO:0001967	"" []	558661	\N	\N	EFO	2	EFO	animal component	medial collateral ligament
EFO:0000786	EFO:0000787	\N	"" []	EFO:0001967	"" []	1140831	\N	\N	EFO	3	EFO	anatomy basic component	medial collateral ligament
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001967	"" []	2023789	\N	\N	EFO	4	EFO	organism part	medial collateral ligament
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001967	"" []	3177423	\N	\N	EFO	5	EFO	material entity	medial collateral ligament
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001967	"" []	4387740	\N	\N	EFO	6	EFO	experimental factor	medial collateral ligament
EFO:0001983	\N	\N	"A leaf component is a plant component which is part of a leaf." []	EFO:0001983	"A leaf component is a plant component which is part of a leaf." []	64906	\N	\N	EFO	0	EFO	leaf component	leaf component
EFO:0000789	EFO:0001983	\N	"" []	EFO:0001983	"A leaf component is a plant component which is part of a leaf." []	205562	\N	\N	EFO	1	EFO	plant component	leaf component
PO:0025131	EFO:0001983	\N	"An anatomical entity that is or was part of a plant." []	EFO:0001983	"A leaf component is a plant component which is part of a leaf." []	205563	\N	\N	EFO	1	EFO	plant anatomical entity	leaf component
EFO:0000786	EFO:0000789	\N	"" []	EFO:0001983	"A leaf component is a plant component which is part of a leaf." []	558662	\N	\N	EFO	2	EFO	anatomy basic component	leaf component
EFO:0000786	PO:0025131	\N	"" []	EFO:0001983	"A leaf component is a plant component which is part of a leaf." []	558663	\N	\N	EFO	2	EFO	anatomy basic component	leaf component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0001983	"A leaf component is a plant component which is part of a leaf." []	1140832	\N	\N	EFO	3	EFO	organism part	leaf component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0001983	"A leaf component is a plant component which is part of a leaf." []	2023790	\N	\N	EFO	4	EFO	material entity	leaf component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0001983	"A leaf component is a plant component which is part of a leaf." []	3177424	\N	\N	EFO	5	EFO	experimental factor	leaf component
EFO:0001986	\N	\N	"A lung structuret is a respiratory system component which is part of a lung." []	EFO:0001986	"A lung structuret is a respiratory system component which is part of a lung." []	64907	\N	\N	EFO	0	EFO	lung structure	lung structure
UBERON:0001004	\N	\N	"Functional system which consists of structures involved in respiration." [Wikipedia:Respiratory_system]	EFO:0001986	"A lung structuret is a respiratory system component which is part of a lung." []	194511	\N	efo_slim,functional_classification,uberon_slim,vertebrate_core	EFO	0	EFO	respiratory system	lung structure
EFO:0002009	\N	\N	"" []	EFO:0002009	"" []	64908	\N	\N	EFO	0	EFO	fibroblast derived cell line	fibroblast derived cell line
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002009	"" []	205564	\N	\N	EFO	1	EFO	cell line	fibroblast derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002009	"" []	558664	\N	\N	EFO	2	EFO	material entity	fibroblast derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002009	"" []	1140833	\N	\N	EFO	3	EFO	experimental factor	fibroblast derived cell line
EFO:0002012	\N	\N	"An organization role is a role which is borne by an organization." []	EFO:0002012	"An organization role is a role which is borne by an organization." []	64909	\N	\N	EFO	0	EFO	organization role	organization role
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0002012	"An organization role is a role which is borne by an organization." []	205565	\N	\N	EFO	1	EFO	role	organization role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002012	"An organization role is a role which is borne by an organization." []	558665	\N	\N	EFO	2	EFO	material property	organization role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002012	"An organization role is a role which is borne by an organization." []	1140834	\N	\N	EFO	3	EFO	experimental factor	organization role
EFO:0002028	\N	\N	"A microarray wash station is an instrument used to wash or stain microarrays." []	EFO:0002028	"A microarray wash station is an instrument used to wash or stain microarrays." []	64910	\N	\N	EFO	0	EFO	microarray wash station	microarray wash station
EFO:0000548	EFO:0002028	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0002028	"A microarray wash station is an instrument used to wash or stain microarrays." []	205566	\N	\N	EFO	1	EFO	instrument	microarray wash station
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002028	"A microarray wash station is an instrument used to wash or stain microarrays." []	558666	\N	\N	EFO	2	EFO	material entity	microarray wash station
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002028	"A microarray wash station is an instrument used to wash or stain microarrays." []	1140835	\N	\N	EFO	3	EFO	experimental factor	microarray wash station
EFO:0002029	\N	\N	"" []	EFO:0002029	"" []	64911	\N	\N	EFO	0	EFO	software	software
IAO:0000030	EFO:0002029	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002029	"" []	205567	\N	\N	EFO	1	EFO	information entity	software
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002029	"" []	558667	\N	\N	EFO	2	EFO	experimental factor	software
EFO:0002032	\N	\N	"An Ara-C-resistant murine leukemia is a cell line.\\nA b117h, and a b140h are kinds of Ara-C-resistant murine leukemias." []	EFO:0002032	"An Ara-C-resistant murine leukemia is a cell line.\\nA b117h, and a b140h are kinds of Ara-C-resistant murine leukemias." []	64912	\N	\N	EFO	0	EFO	Ara-C-resistant murine leukemia	Ara-C-resistant murine leukemia
EFO:0002887	EFO:0002032	\N	"Cell lines derived from mice." []	EFO:0002032	"An Ara-C-resistant murine leukemia is a cell line.\\nA b117h, and a b140h are kinds of Ara-C-resistant murine leukemias." []	205568	\N	\N	EFO	1	EFO	mouse cell line	Ara-C-resistant murine leukemia
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002032	"An Ara-C-resistant murine leukemia is a cell line.\\nA b117h, and a b140h are kinds of Ara-C-resistant murine leukemias." []	558668	\N	\N	EFO	2	EFO	cell line	Ara-C-resistant murine leukemia
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002032	"An Ara-C-resistant murine leukemia is a cell line.\\nA b117h, and a b140h are kinds of Ara-C-resistant murine leukemias." []	1140836	\N	\N	EFO	3	EFO	material entity	Ara-C-resistant murine leukemia
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002032	"An Ara-C-resistant murine leukemia is a cell line.\\nA b117h, and a b140h are kinds of Ara-C-resistant murine leukemias." []	2023791	\N	\N	EFO	4	EFO	experimental factor	Ara-C-resistant murine leukemia
EFO:0002033	\N	\N	"" []	EFO:0002033	"" []	64913	\N	\N	EFO	0	EFO	Ara-C-sensitive parental cell line	Ara-C-sensitive parental cell line
EFO:0002887	EFO:0002033	\N	"Cell lines derived from mice." []	EFO:0002033	"" []	205569	\N	\N	EFO	1	EFO	mouse cell line	Ara-C-sensitive parental cell line
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002033	"" []	558669	\N	\N	EFO	2	EFO	cell line	Ara-C-sensitive parental cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002033	"" []	1140837	\N	\N	EFO	3	EFO	material entity	Ara-C-sensitive parental cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002033	"" []	2023792	\N	\N	EFO	4	EFO	experimental factor	Ara-C-sensitive parental cell line
EFO:0002034	\N	\N	"A GATA-1-null erythroblast is a cell line.\\nA g1e er4 is a GATA-1-null erythroblast." []	EFO:0002034	"A GATA-1-null erythroblast is a cell line.\\nA g1e er4 is a GATA-1-null erythroblast." []	64914	\N	\N	EFO	0	EFO	G1E	G1E
EFO:0002886	EFO:0002034	\N	"Cell lines derived from stem cells." []	EFO:0002034	"A GATA-1-null erythroblast is a cell line.\\nA g1e er4 is a GATA-1-null erythroblast." []	205570	\N	\N	EFO	1	EFO	stem cell derived cell line	G1E
EFO:0002887	EFO:0002034	\N	"Cell lines derived from mice." []	EFO:0002034	"A GATA-1-null erythroblast is a cell line.\\nA g1e er4 is a GATA-1-null erythroblast." []	205571	\N	\N	EFO	1	EFO	mouse cell line	G1E
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002034	"A GATA-1-null erythroblast is a cell line.\\nA g1e er4 is a GATA-1-null erythroblast." []	558670	\N	\N	EFO	2	EFO	cell line	G1E
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002034	"A GATA-1-null erythroblast is a cell line.\\nA g1e er4 is a GATA-1-null erythroblast." []	558671	\N	\N	EFO	2	EFO	cell line	G1E
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002034	"A GATA-1-null erythroblast is a cell line.\\nA g1e er4 is a GATA-1-null erythroblast." []	1140838	\N	\N	EFO	3	EFO	material entity	G1E
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002034	"A GATA-1-null erythroblast is a cell line.\\nA g1e er4 is a GATA-1-null erythroblast." []	2023793	\N	\N	EFO	4	EFO	experimental factor	G1E
EFO:0002035	\N	\N	"" []	EFO:0002035	"" []	64915	\N	\N	EFO	0	EFO	murine neuroblastoma cholinergic cell line	murine neuroblastoma cholinergic cell line
EFO:0002887	EFO:0002035	\N	"Cell lines derived from mice." []	EFO:0002035	"" []	205572	\N	\N	EFO	1	EFO	mouse cell line	murine neuroblastoma cholinergic cell line
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002035	"" []	558672	\N	\N	EFO	2	EFO	cell line	murine neuroblastoma cholinergic cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002035	"" []	1140839	\N	\N	EFO	3	EFO	material entity	murine neuroblastoma cholinergic cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002035	"" []	2023794	\N	\N	EFO	4	EFO	experimental factor	murine neuroblastoma cholinergic cell line
EFO:0002037	\N	\N	"" []	EFO:0002037	"" []	64916	\N	\N	EFO	0	EFO	4T1	4T1
EFO:0002885	EFO:0002037	\N	"" []	EFO:0002037	"" []	205573	\N	\N	EFO	1	EFO	breast cancer cell line	4T1
EFO:0002887	EFO:0002037	\N	"Cell lines derived from mice." []	EFO:0002037	"" []	205574	\N	\N	EFO	1	EFO	mouse cell line	4T1
EFO:0001639	EFO:0002885	\N	"" []	EFO:0002037	"" []	558673	\N	\N	EFO	2	EFO	cancer cell line	4T1
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002037	"" []	558674	\N	\N	EFO	2	EFO	cell line	4T1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002037	"" []	1140840	\N	\N	EFO	3	EFO	cell line	4T1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002037	"" []	2023795	\N	\N	EFO	4	EFO	material entity	4T1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002037	"" []	2999320	\N	\N	EFO	5	EFO	experimental factor	4T1
EFO:0002038	\N	\N	"" []	EFO:0002038	"" []	64917	\N	\N	EFO	0	EFO	66cl4	66cl4
EFO:0002885	EFO:0002038	\N	"" []	EFO:0002038	"" []	205575	\N	\N	EFO	1	EFO	breast cancer cell line	66cl4
EFO:0002887	EFO:0002038	\N	"Cell lines derived from mice." []	EFO:0002038	"" []	205576	\N	\N	EFO	1	EFO	mouse cell line	66cl4
EFO:0001639	EFO:0002885	\N	"" []	EFO:0002038	"" []	558675	\N	\N	EFO	2	EFO	cancer cell line	66cl4
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002038	"" []	558676	\N	\N	EFO	2	EFO	cell line	66cl4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002038	"" []	1140842	\N	\N	EFO	3	EFO	cell line	66cl4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002038	"" []	2023797	\N	\N	EFO	4	EFO	material entity	66cl4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002038	"" []	2999321	\N	\N	EFO	5	EFO	experimental factor	66cl4
EFO:0002039	\N	\N	"" []	EFO:0002039	"" []	64918	\N	\N	EFO	0	EFO	67NR	67NR
EFO:0002885	EFO:0002039	\N	"" []	EFO:0002039	"" []	205577	\N	\N	EFO	1	EFO	breast cancer cell line	67NR
EFO:0002887	EFO:0002039	\N	"Cell lines derived from mice." []	EFO:0002039	"" []	205578	\N	\N	EFO	1	EFO	mouse cell line	67NR
EFO:0001639	EFO:0002885	\N	"" []	EFO:0002039	"" []	558677	\N	\N	EFO	2	EFO	cancer cell line	67NR
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002039	"" []	558678	\N	\N	EFO	2	EFO	cell line	67NR
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002039	"" []	1140844	\N	\N	EFO	3	EFO	cell line	67NR
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002039	"" []	2023799	\N	\N	EFO	4	EFO	material entity	67NR
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002039	"" []	2999322	\N	\N	EFO	5	EFO	experimental factor	67NR
EFO:0002040	\N	\N	"A b117h is an ara c resistant murine leukemia." []	EFO:0002040	"A b117h is an ara c resistant murine leukemia." []	64919	\N	\N	EFO	0	EFO	B117H	B117H
EFO:0002032	EFO:0002040	\N	"An Ara-C-resistant murine leukemia is a cell line.\\nA b117h, and a b140h are kinds of Ara-C-resistant murine leukemias." []	EFO:0002040	"A b117h is an ara c resistant murine leukemia." []	205579	\N	\N	EFO	1	EFO	Ara-C-resistant murine leukemia	B117H
EFO:0002937	EFO:0002040	\N	"" []	EFO:0002040	"A b117h is an ara c resistant murine leukemia." []	205580	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	B117H
EFO:0002887	EFO:0002032	\N	"Cell lines derived from mice." []	EFO:0002040	"A b117h is an ara c resistant murine leukemia." []	558679	\N	\N	EFO	2	EFO	mouse cell line	B117H
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002040	"A b117h is an ara c resistant murine leukemia." []	558680	\N	\N	EFO	2	EFO	cancer cell line	B117H
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002040	"A b117h is an ara c resistant murine leukemia." []	1140846	\N	\N	EFO	3	EFO	cell line	B117H
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002040	"A b117h is an ara c resistant murine leukemia." []	1140847	\N	\N	EFO	3	EFO	cell line	B117H
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002040	"A b117h is an ara c resistant murine leukemia." []	2023801	\N	\N	EFO	4	EFO	material entity	B117H
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002040	"A b117h is an ara c resistant murine leukemia." []	3177425	\N	\N	EFO	5	EFO	experimental factor	B117H
EFO:0002041	\N	\N	"" []	EFO:0002041	"" []	64920	\N	\N	EFO	0	EFO	B117P	B117P
EFO:0002033	EFO:0002041	\N	"" []	EFO:0002041	"" []	205581	\N	\N	EFO	1	EFO	Ara-C-sensitive parental cell line	B117P
EFO:0002937	EFO:0002041	\N	"" []	EFO:0002041	"" []	205582	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	B117P
EFO:0002887	EFO:0002033	\N	"Cell lines derived from mice." []	EFO:0002041	"" []	558681	\N	\N	EFO	2	EFO	mouse cell line	B117P
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002041	"" []	558682	\N	\N	EFO	2	EFO	cancer cell line	B117P
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002041	"" []	1140848	\N	\N	EFO	3	EFO	cell line	B117P
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002041	"" []	1140849	\N	\N	EFO	3	EFO	cell line	B117P
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002041	"" []	2023802	\N	\N	EFO	4	EFO	material entity	B117P
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002041	"" []	3177426	\N	\N	EFO	5	EFO	experimental factor	B117P
EFO:0002042	\N	\N	"AB140H is an Ara-C-resistant murine leukemia." []	EFO:0002042	"AB140H is an Ara-C-resistant murine leukemia." []	64921	\N	\N	EFO	0	EFO	B140H	B140H
EFO:0002032	EFO:0002042	\N	"An Ara-C-resistant murine leukemia is a cell line.\\nA b117h, and a b140h are kinds of Ara-C-resistant murine leukemias." []	EFO:0002042	"AB140H is an Ara-C-resistant murine leukemia." []	205583	\N	\N	EFO	1	EFO	Ara-C-resistant murine leukemia	B140H
EFO:0002937	EFO:0002042	\N	"" []	EFO:0002042	"AB140H is an Ara-C-resistant murine leukemia." []	205584	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	B140H
EFO:0002887	EFO:0002032	\N	"Cell lines derived from mice." []	EFO:0002042	"AB140H is an Ara-C-resistant murine leukemia." []	558683	\N	\N	EFO	2	EFO	mouse cell line	B140H
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002042	"AB140H is an Ara-C-resistant murine leukemia." []	558684	\N	\N	EFO	2	EFO	cancer cell line	B140H
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002042	"AB140H is an Ara-C-resistant murine leukemia." []	1140850	\N	\N	EFO	3	EFO	cell line	B140H
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002042	"AB140H is an Ara-C-resistant murine leukemia." []	1140851	\N	\N	EFO	3	EFO	cell line	B140H
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002042	"AB140H is an Ara-C-resistant murine leukemia." []	2023803	\N	\N	EFO	4	EFO	material entity	B140H
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002042	"AB140H is an Ara-C-resistant murine leukemia." []	3177427	\N	\N	EFO	5	EFO	experimental factor	B140H
EFO:0002043	\N	\N	"" []	EFO:0002043	"" []	64922	\N	\N	EFO	0	EFO	B140P	B140P
EFO:0002033	EFO:0002043	\N	"" []	EFO:0002043	"" []	205585	\N	\N	EFO	1	EFO	Ara-C-sensitive parental cell line	B140P
EFO:0002937	EFO:0002043	\N	"" []	EFO:0002043	"" []	205586	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	B140P
EFO:0002887	EFO:0002033	\N	"Cell lines derived from mice." []	EFO:0002043	"" []	558685	\N	\N	EFO	2	EFO	mouse cell line	B140P
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002043	"" []	558686	\N	\N	EFO	2	EFO	cancer cell line	B140P
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002043	"" []	1140852	\N	\N	EFO	3	EFO	cell line	B140P
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002043	"" []	1140853	\N	\N	EFO	3	EFO	cell line	B140P
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002043	"" []	2023804	\N	\N	EFO	4	EFO	material entity	B140P
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002043	"" []	3177428	\N	\N	EFO	5	EFO	experimental factor	B140P
EFO:0002044	\N	\N	"" []	EFO:0002044	"" []	64923	\N	\N	EFO	0	EFO	BC-1	BC-1
EFO:0001639	EFO:0002044	\N	"" []	EFO:0002044	"" []	205587	\N	\N	EFO	1	EFO	cancer cell line	BC-1
EFO:0002883	EFO:0002044	\N	"Cell lines that are part of the haemopoietic system." []	EFO:0002044	"" []	205588	\N	\N	EFO	1	EFO	haemopoietic system cell line	BC-1
EFO:0002888	EFO:0002044	\N	"" []	EFO:0002044	"" []	205589	\N	\N	EFO	1	EFO	Homo sapiens cell line	BC-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002044	"" []	558687	\N	\N	EFO	2	EFO	cell line	BC-1
EFO:0000322	EFO:0002883	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002044	"" []	558688	\N	\N	EFO	2	EFO	cell line	BC-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002044	"" []	558689	\N	\N	EFO	2	EFO	cell line	BC-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002044	"" []	1140854	\N	\N	EFO	3	EFO	material entity	BC-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002044	"" []	2023805	\N	\N	EFO	4	EFO	experimental factor	BC-1
EFO:0002045	\N	\N	"" []	EFO:0002045	"" []	64924	\N	\N	EFO	0	EFO	BC-2	BC-2
EFO:0002888	EFO:0002045	\N	"" []	EFO:0002045	"" []	205590	\N	\N	EFO	1	EFO	Homo sapiens cell line	BC-2
EFO:0002937	EFO:0002045	\N	"" []	EFO:0002045	"" []	205591	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	BC-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002045	"" []	558690	\N	\N	EFO	2	EFO	cell line	BC-2
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002045	"" []	558691	\N	\N	EFO	2	EFO	cancer cell line	BC-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002045	"" []	2023807	\N	\N	EFO	4	EFO	material entity	BC-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002045	"" []	1140856	\N	\N	EFO	3	EFO	cell line	BC-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002045	"" []	2999323	\N	\N	EFO	5	EFO	experimental factor	BC-2
EFO:0002046	\N	\N	"" []	EFO:0002046	"" []	64925	\N	\N	EFO	0	EFO	BC-3	BC-3
EFO:0001639	EFO:0002046	\N	"" []	EFO:0002046	"" []	205592	\N	\N	EFO	1	EFO	cancer cell line	BC-3
EFO:0002888	EFO:0002046	\N	"" []	EFO:0002046	"" []	205593	\N	\N	EFO	1	EFO	Homo sapiens cell line	BC-3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002046	"" []	558692	\N	\N	EFO	2	EFO	cell line	BC-3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002046	"" []	558693	\N	\N	EFO	2	EFO	cell line	BC-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002046	"" []	1140857	\N	\N	EFO	3	EFO	material entity	BC-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002046	"" []	2023808	\N	\N	EFO	4	EFO	experimental factor	BC-3
EFO:0002047	\N	\N	"" []	EFO:0002047	"" []	64926	\N	\N	EFO	0	EFO	BC-5	BC-5
EFO:0002887	EFO:0002047	\N	"Cell lines derived from mice." []	EFO:0002047	"" []	205594	\N	\N	EFO	1	EFO	mouse cell line	BC-5
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002047	"" []	558694	\N	\N	EFO	2	EFO	cell line	BC-5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002047	"" []	1140858	\N	\N	EFO	3	EFO	material entity	BC-5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002047	"" []	2023809	\N	\N	EFO	4	EFO	experimental factor	BC-5
EFO:0002048	\N	\N	"" []	EFO:0002048	"" []	64927	\N	\N	EFO	0	EFO	BCBL-1	BCBL-1
EFO:0002888	EFO:0002048	\N	"" []	EFO:0002048	"" []	205595	\N	\N	EFO	1	EFO	Homo sapiens cell line	BCBL-1
EFO:0002937	EFO:0002048	\N	"" []	EFO:0002048	"" []	205596	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	BCBL-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002048	"" []	558695	\N	\N	EFO	2	EFO	cell line	BCBL-1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002048	"" []	558696	\N	\N	EFO	2	EFO	cancer cell line	BCBL-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002048	"" []	2023811	\N	\N	EFO	4	EFO	material entity	BCBL-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002048	"" []	1140860	\N	\N	EFO	3	EFO	cell line	BCBL-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002048	"" []	2999324	\N	\N	EFO	5	EFO	experimental factor	BCBL-1
EFO:0002049	\N	\N	"" []	EFO:0002049	"" []	64928	\N	\N	EFO	0	EFO	BCKN-1	BCKN-1
EFO:0002888	EFO:0002049	\N	"" []	EFO:0002049	"" []	205597	\N	\N	EFO	1	EFO	Homo sapiens cell line	BCKN-1
EFO:0002937	EFO:0002049	\N	"" []	EFO:0002049	"" []	205598	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	BCKN-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002049	"" []	558697	\N	\N	EFO	2	EFO	cell line	BCKN-1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002049	"" []	558698	\N	\N	EFO	2	EFO	cancer cell line	BCKN-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002049	"" []	2023813	\N	\N	EFO	4	EFO	material entity	BCKN-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002049	"" []	1140862	\N	\N	EFO	3	EFO	cell line	BCKN-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002049	"" []	2999325	\N	\N	EFO	5	EFO	experimental factor	BCKN-1
EFO:0002050	\N	\N	"" []	EFO:0002050	"" []	64929	\N	\N	EFO	0	EFO	BeWo	BeWo
EFO:0002888	EFO:0002050	\N	"" []	EFO:0002050	"" []	205599	\N	\N	EFO	1	EFO	Homo sapiens cell line	BeWo
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002050	"" []	558699	\N	\N	EFO	2	EFO	cell line	BeWo
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002050	"" []	1140863	\N	\N	EFO	3	EFO	material entity	BeWo
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002050	"" []	2023814	\N	\N	EFO	4	EFO	experimental factor	BeWo
EFO:0002051	\N	\N	"" []	EFO:0002051	"" []	64930	\N	\N	EFO	0	EFO	D4 glioblastoma derived primary cell line	D4 glioblastoma derived primary cell line
EFO:0001639	EFO:0002051	\N	"" []	EFO:0002051	"" []	205600	\N	\N	EFO	1	EFO	cancer cell line	D4 glioblastoma derived primary cell line
EFO:0002888	EFO:0002051	\N	"" []	EFO:0002051	"" []	205601	\N	\N	EFO	1	EFO	Homo sapiens cell line	D4 glioblastoma derived primary cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002051	"" []	558700	\N	\N	EFO	2	EFO	cell line	D4 glioblastoma derived primary cell line
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002051	"" []	558701	\N	\N	EFO	2	EFO	cell line	D4 glioblastoma derived primary cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002051	"" []	1140864	\N	\N	EFO	3	EFO	material entity	D4 glioblastoma derived primary cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002051	"" []	2023815	\N	\N	EFO	4	EFO	experimental factor	D4 glioblastoma derived primary cell line
EFO:0002052	\N	\N	"" []	EFO:0002052	"" []	64931	\N	\N	EFO	0	EFO	EcR-RKO/KLF4	EcR-RKO/KLF4
BTO:0000797	\N	\N	"" []	EFO:0002052	"" []	194512	\N	\N	EFO	0	EFO	colonic cancer cell line	EcR-RKO/KLF4
BTO:0003250	\N	\N	"" []	EFO:0002052	"" []	194513	\N	\N	EFO	0	EFO	colonic epithelium cell line	EcR-RKO/KLF4
EFO:0001639	EFO:0002052	\N	"" []	EFO:0002052	"" []	205602	\N	\N	EFO	1	EFO	cancer cell line	EcR-RKO/KLF4
EFO:0002888	EFO:0002052	\N	"" []	EFO:0002052	"" []	205603	\N	\N	EFO	1	EFO	Homo sapiens cell line	EcR-RKO/KLF4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002052	"" []	558702	\N	\N	EFO	2	EFO	cell line	EcR-RKO/KLF4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002052	"" []	558703	\N	\N	EFO	2	EFO	cell line	EcR-RKO/KLF4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002052	"" []	1140865	\N	\N	EFO	3	EFO	material entity	EcR-RKO/KLF4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002052	"" []	2023816	\N	\N	EFO	4	EFO	experimental factor	EcR-RKO/KLF4
EFO:0002053	\N	\N	"" []	EFO:0002053	"" []	64932	\N	\N	EFO	0	EFO	F9 mouse embryonal carcinoma cell line	F9 mouse embryonal carcinoma cell line
EFO:0001639	EFO:0002053	\N	"" []	EFO:0002053	"" []	205604	\N	\N	EFO	1	EFO	cancer cell line	F9 mouse embryonal carcinoma cell line
EFO:0002887	EFO:0002053	\N	"Cell lines derived from mice." []	EFO:0002053	"" []	205605	\N	\N	EFO	1	EFO	mouse cell line	F9 mouse embryonal carcinoma cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002053	"" []	558704	\N	\N	EFO	2	EFO	cell line	F9 mouse embryonal carcinoma cell line
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002053	"" []	558705	\N	\N	EFO	2	EFO	cell line	F9 mouse embryonal carcinoma cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002053	"" []	1140866	\N	\N	EFO	3	EFO	material entity	F9 mouse embryonal carcinoma cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002053	"" []	2023817	\N	\N	EFO	4	EFO	experimental factor	F9 mouse embryonal carcinoma cell line
EFO:0002054	\N	\N	"" []	EFO:0002054	"" []	64933	\N	\N	EFO	0	EFO	Fu97	Fu97
EFO:0001639	EFO:0002054	\N	"" []	EFO:0002054	"" []	205606	\N	\N	EFO	1	EFO	cancer cell line	Fu97
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002054	"" []	558706	\N	\N	EFO	2	EFO	cell line	Fu97
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002054	"" []	1140867	\N	\N	EFO	3	EFO	material entity	Fu97
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002054	"" []	2023818	\N	\N	EFO	4	EFO	experimental factor	Fu97
EFO:0002055	\N	\N	"A g1e er4 is a GATA-1-null erythroblast." []	EFO:0002055	"A g1e er4 is a GATA-1-null erythroblast." []	64934	\N	\N	EFO	0	EFO	G1E-ER4	G1E-ER4
EFO:0002034	EFO:0002055	\N	"A GATA-1-null erythroblast is a cell line.\\nA g1e er4 is a GATA-1-null erythroblast." []	EFO:0002055	"A g1e er4 is a GATA-1-null erythroblast." []	205607	\N	\N	EFO	1	EFO	G1E	G1E-ER4
EFO:0002886	EFO:0002034	\N	"Cell lines derived from stem cells." []	EFO:0002055	"A g1e er4 is a GATA-1-null erythroblast." []	558707	\N	\N	EFO	2	EFO	stem cell derived cell line	G1E-ER4
EFO:0002887	EFO:0002034	\N	"Cell lines derived from mice." []	EFO:0002055	"A g1e er4 is a GATA-1-null erythroblast." []	558708	\N	\N	EFO	2	EFO	mouse cell line	G1E-ER4
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002055	"A g1e er4 is a GATA-1-null erythroblast." []	1140868	\N	\N	EFO	3	EFO	cell line	G1E-ER4
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002055	"A g1e er4 is a GATA-1-null erythroblast." []	1140869	\N	\N	EFO	3	EFO	cell line	G1E-ER4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002055	"A g1e er4 is a GATA-1-null erythroblast." []	2023819	\N	\N	EFO	4	EFO	material entity	G1E-ER4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002055	"A g1e er4 is a GATA-1-null erythroblast." []	3177429	\N	\N	EFO	5	EFO	experimental factor	G1E-ER4
EFO:0002056	\N	\N	"" []	EFO:0002056	"" []	64935	\N	\N	EFO	0	EFO	HaCaT	HaCaT
EFO:0002009	EFO:0002056	\N	"" []	EFO:0002056	"" []	205608	\N	\N	EFO	1	EFO	fibroblast derived cell line	HaCaT
EFO:0002888	EFO:0002056	\N	"" []	EFO:0002056	"" []	205609	\N	\N	EFO	1	EFO	Homo sapiens cell line	HaCaT
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002056	"" []	558709	\N	\N	EFO	2	EFO	cell line	HaCaT
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002056	"" []	558710	\N	\N	EFO	2	EFO	cell line	HaCaT
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002056	"" []	1140870	\N	\N	EFO	3	EFO	material entity	HaCaT
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002056	"" []	2023820	\N	\N	EFO	4	EFO	experimental factor	HaCaT
EFO:0002057	\N	\N	"" []	EFO:0002057	"" []	64936	\N	\N	EFO	0	EFO	HCC1008	HCC1008
EFO:0001639	EFO:0002057	\N	"" []	EFO:0002057	"" []	205610	\N	\N	EFO	1	EFO	cancer cell line	HCC1008
EFO:0001641	EFO:0002057	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002057	"" []	205611	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1008
EFO:0002884	EFO:0002057	\N	"" []	EFO:0002057	"" []	205612	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1008
EFO:0002888	EFO:0002057	\N	"" []	EFO:0002057	"" []	205613	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1008
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002057	"" []	558711	\N	\N	EFO	2	EFO	cell line	HCC1008
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002057	"" []	558712	\N	\N	EFO	2	EFO	cell line	HCC1008
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002057	"" []	558713	\N	\N	EFO	2	EFO	cell line	HCC1008
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002057	"" []	558714	\N	\N	EFO	2	EFO	cell line	HCC1008
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002057	"" []	1140871	\N	\N	EFO	3	EFO	material entity	HCC1008
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002057	"" []	2023821	\N	\N	EFO	4	EFO	experimental factor	HCC1008
EFO:0002059	\N	\N	"" []	EFO:0002059	"" []	64937	\N	\N	EFO	0	EFO	HT1080	HT1080
EFO:0001639	EFO:0002059	\N	"" []	EFO:0002059	"" []	205614	\N	\N	EFO	1	EFO	cancer cell line	HT1080
EFO:0002888	EFO:0002059	\N	"" []	EFO:0002059	"" []	205615	\N	\N	EFO	1	EFO	Homo sapiens cell line	HT1080
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002059	"" []	558715	\N	\N	EFO	2	EFO	cell line	HT1080
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002059	"" []	558716	\N	\N	EFO	2	EFO	cell line	HT1080
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002059	"" []	1140872	\N	\N	EFO	3	EFO	material entity	HT1080
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002059	"" []	2023822	\N	\N	EFO	4	EFO	experimental factor	HT1080
EFO:0002060	\N	\N	"" []	EFO:0002060	"" []	64938	\N	\N	EFO	0	EFO	IBL4	IBL4
EFO:0002888	EFO:0002060	\N	"" []	EFO:0002060	"" []	205616	\N	\N	EFO	1	EFO	Homo sapiens cell line	IBL4
EFO:0002937	EFO:0002060	\N	"" []	EFO:0002060	"" []	205617	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	IBL4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002060	"" []	558717	\N	\N	EFO	2	EFO	cell line	IBL4
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002060	"" []	558718	\N	\N	EFO	2	EFO	cancer cell line	IBL4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002060	"" []	2023824	\N	\N	EFO	4	EFO	material entity	IBL4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002060	"" []	1140874	\N	\N	EFO	3	EFO	cell line	IBL4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002060	"" []	2999326	\N	\N	EFO	5	EFO	experimental factor	IBL4
EFO:0002061	\N	\N	"" []	EFO:0002061	"" []	64939	\N	\N	EFO	0	EFO	ITM	ITM
EFO:0002888	EFO:0002061	\N	"" []	EFO:0002061	"" []	205618	\N	\N	EFO	1	EFO	Homo sapiens cell line	ITM
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002061	"" []	558719	\N	\N	EFO	2	EFO	cell line	ITM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002061	"" []	1140875	\N	\N	EFO	3	EFO	material entity	ITM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002061	"" []	2023825	\N	\N	EFO	4	EFO	experimental factor	ITM
EFO:0002062	\N	\N	"" []	EFO:0002062	"" []	64940	\N	\N	EFO	0	EFO	ITM-E6E7	ITM-E6E7
EFO:0002888	EFO:0002062	\N	"" []	EFO:0002062	"" []	205619	\N	\N	EFO	1	EFO	Homo sapiens cell line	ITM-E6E7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002062	"" []	558720	\N	\N	EFO	2	EFO	cell line	ITM-E6E7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002062	"" []	1140876	\N	\N	EFO	3	EFO	material entity	ITM-E6E7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002062	"" []	2023826	\N	\N	EFO	4	EFO	experimental factor	ITM-E6E7
EFO:0002063	\N	\N	"" []	EFO:0002063	"" []	64941	\N	\N	EFO	0	EFO	ITM-E6E7-ST	ITM-E6E7-ST
EFO:0002888	EFO:0002063	\N	"" []	EFO:0002063	"" []	205620	\N	\N	EFO	1	EFO	Homo sapiens cell line	ITM-E6E7-ST
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002063	"" []	558721	\N	\N	EFO	2	EFO	cell line	ITM-E6E7-ST
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002063	"" []	1140877	\N	\N	EFO	3	EFO	material entity	ITM-E6E7-ST
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002063	"" []	2023827	\N	\N	EFO	4	EFO	experimental factor	ITM-E6E7-ST
EFO:0002064	\N	\N	"" []	EFO:0002064	"" []	64942	\N	\N	EFO	0	EFO	ITM-ST	ITM-ST
EFO:0002888	EFO:0002064	\N	"" []	EFO:0002064	"" []	205621	\N	\N	EFO	1	EFO	Homo sapiens cell line	ITM-ST
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002064	"" []	558722	\N	\N	EFO	2	EFO	cell line	ITM-ST
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002064	"" []	1140878	\N	\N	EFO	3	EFO	material entity	ITM-ST
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002064	"" []	2023828	\N	\N	EFO	4	EFO	experimental factor	ITM-ST
EFO:0002065	\N	\N	"" []	EFO:0002065	"" []	64943	\N	\N	EFO	0	EFO	ITV	ITV
EFO:0002009	EFO:0002065	\N	"" []	EFO:0002065	"" []	205622	\N	\N	EFO	1	EFO	fibroblast derived cell line	ITV
EFO:0002888	EFO:0002065	\N	"" []	EFO:0002065	"" []	205623	\N	\N	EFO	1	EFO	Homo sapiens cell line	ITV
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002065	"" []	558723	\N	\N	EFO	2	EFO	cell line	ITV
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002065	"" []	558724	\N	\N	EFO	2	EFO	cell line	ITV
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002065	"" []	1140879	\N	\N	EFO	3	EFO	material entity	ITV
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002065	"" []	2023829	\N	\N	EFO	4	EFO	experimental factor	ITV
EFO:0002066	\N	\N	"" []	EFO:0002066	"" []	64944	\N	\N	EFO	0	EFO	JEG3	JEG3
EFO:0002888	EFO:0002066	\N	"" []	EFO:0002066	"" []	205624	\N	\N	EFO	1	EFO	Homo sapiens cell line	JEG3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002066	"" []	558725	\N	\N	EFO	2	EFO	cell line	JEG3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002066	"" []	1140880	\N	\N	EFO	3	EFO	material entity	JEG3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002066	"" []	2023830	\N	\N	EFO	4	EFO	experimental factor	JEG3
EFO:0002067	\N	\N	"Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." []	EFO:0002067	"Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." []	64945	\N	\N	EFO	0	EFO	K562	K562
EFO:0002888	EFO:0002067	\N	"" []	EFO:0002067	"Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." []	205625	\N	\N	EFO	1	EFO	Homo sapiens cell line	K562
EFO:0002926	EFO:0002067	\N	"" []	EFO:0002067	"Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." []	205626	\N	\N	EFO	1	EFO	ENCODE cell line	K562
EFO:0005294	EFO:0002067	\N	"" []	EFO:0002067	"Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." []	205627	\N	\N	EFO	1	EFO	chronic myelogenous leukemia cell line	K562
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002067	"Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." []	558726	\N	\N	EFO	2	EFO	cell line	K562
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002067	"Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." []	558727	\N	\N	EFO	2	EFO	cell line	K562
EFO:0002937	EFO:0005294	\N	"" []	EFO:0002067	"Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." []	558728	\N	\N	EFO	2	EFO	lymphoma or leukaemia cell line	K562
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002067	"Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." []	3177430	\N	\N	EFO	5	EFO	material entity	K562
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002067	"Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." []	1140882	\N	\N	EFO	3	EFO	cancer cell line	K562
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002067	"Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." []	4066681	\N	\N	EFO	6	EFO	experimental factor	K562
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002067	"Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene." []	2023832	\N	\N	EFO	4	EFO	cell line	K562
EFO:0002068	\N	\N	"A Kc is a cell line.\\nA Kc derives from a drosophila melanogaster." []	EFO:0002068	"A Kc is a cell line.\\nA Kc derives from a drosophila melanogaster." []	64946	\N	\N	EFO	0	EFO	Kc	Kc
EFO:0002935	EFO:0002068	\N	"" []	EFO:0002068	"A Kc is a cell line.\\nA Kc derives from a drosophila melanogaster." []	205628	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	Kc
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002068	"A Kc is a cell line.\\nA Kc derives from a drosophila melanogaster." []	558729	\N	\N	EFO	2	EFO	cell line	Kc
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002068	"A Kc is a cell line.\\nA Kc derives from a drosophila melanogaster." []	1140883	\N	\N	EFO	3	EFO	material entity	Kc
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002068	"A Kc is a cell line.\\nA Kc derives from a drosophila melanogaster." []	2023833	\N	\N	EFO	4	EFO	experimental factor	Kc
EFO:0002069	\N	\N	"A KELLY is a cell line.\\nA KELLY is all of the following: something that is bearer of a neuroblastoma, something that derives from a Homo sapiens, and something that derives from a brain." []	EFO:0002069	"A KELLY is a cell line.\\nA KELLY is all of the following: something that is bearer of a neuroblastoma, something that derives from a Homo sapiens, and something that derives from a brain." []	64947	\N	\N	EFO	0	EFO	KELLY	KELLY
EFO:0002888	EFO:0002069	\N	"" []	EFO:0002069	"A KELLY is a cell line.\\nA KELLY is all of the following: something that is bearer of a neuroblastoma, something that derives from a Homo sapiens, and something that derives from a brain." []	205629	\N	\N	EFO	1	EFO	Homo sapiens cell line	KELLY
EFO:0005214	EFO:0002069	\N	"A cell line which is a model for neuroblastoma." []	EFO:0002069	"A KELLY is a cell line.\\nA KELLY is all of the following: something that is bearer of a neuroblastoma, something that derives from a Homo sapiens, and something that derives from a brain." []	205630	\N	\N	EFO	1	EFO	neuroblastoma cell line	KELLY
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002069	"A KELLY is a cell line.\\nA KELLY is all of the following: something that is bearer of a neuroblastoma, something that derives from a Homo sapiens, and something that derives from a brain." []	558730	\N	\N	EFO	2	EFO	cell line	KELLY
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002069	"A KELLY is a cell line.\\nA KELLY is all of the following: something that is bearer of a neuroblastoma, something that derives from a Homo sapiens, and something that derives from a brain." []	558731	\N	\N	EFO	2	EFO	cell line	KELLY
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002069	"A KELLY is a cell line.\\nA KELLY is all of the following: something that is bearer of a neuroblastoma, something that derives from a Homo sapiens, and something that derives from a brain." []	1140884	\N	\N	EFO	3	EFO	material entity	KELLY
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002069	"A KELLY is a cell line.\\nA KELLY is all of the following: something that is bearer of a neuroblastoma, something that derives from a Homo sapiens, and something that derives from a brain." []	2023834	\N	\N	EFO	4	EFO	experimental factor	KELLY
EFO:0002070	\N	\N	"A Lbeta T2 is a cell line.\\nA Lbeta T2 is both something that derives from a mus musculus, and something that derives from a pituitary." []	EFO:0002070	"A Lbeta T2 is a cell line.\\nA Lbeta T2 is both something that derives from a mus musculus, and something that derives from a pituitary." []	64948	\N	\N	EFO	0	EFO	LbetaT2	LbetaT2
EFO:0002887	EFO:0002070	\N	"Cell lines derived from mice." []	EFO:0002070	"A Lbeta T2 is a cell line.\\nA Lbeta T2 is both something that derives from a mus musculus, and something that derives from a pituitary." []	205631	\N	\N	EFO	1	EFO	mouse cell line	LbetaT2
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002070	"A Lbeta T2 is a cell line.\\nA Lbeta T2 is both something that derives from a mus musculus, and something that derives from a pituitary." []	558732	\N	\N	EFO	2	EFO	cell line	LbetaT2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002070	"A Lbeta T2 is a cell line.\\nA Lbeta T2 is both something that derives from a mus musculus, and something that derives from a pituitary." []	1140885	\N	\N	EFO	3	EFO	material entity	LbetaT2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002070	"A Lbeta T2 is a cell line.\\nA Lbeta T2 is both something that derives from a mus musculus, and something that derives from a pituitary." []	2023835	\N	\N	EFO	4	EFO	experimental factor	LbetaT2
EFO:0002071	\N	\N	"Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." []	EFO:0002071	"Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." []	64949	\N	\N	EFO	0	EFO	LNCAP	LNCAP
EFO:0001639	EFO:0002071	\N	"" []	EFO:0002071	"Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." []	205632	\N	\N	EFO	1	EFO	cancer cell line	LNCAP
EFO:0002888	EFO:0002071	\N	"" []	EFO:0002071	"Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." []	205633	\N	\N	EFO	1	EFO	Homo sapiens cell line	LNCAP
EFO:0002891	EFO:0002071	\N	"Any cell line that is derived from the prostate." []	EFO:0002071	"Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." []	205634	\N	\N	EFO	1	EFO	prostate derived cell line	LNCAP
EFO:0002926	EFO:0002071	\N	"" []	EFO:0002071	"Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." []	205635	\N	\N	EFO	1	EFO	ENCODE cell line	LNCAP
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002071	"Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." []	558733	\N	\N	EFO	2	EFO	cell line	LNCAP
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002071	"Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." []	558734	\N	\N	EFO	2	EFO	cell line	LNCAP
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002071	"Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." []	558735	\N	\N	EFO	2	EFO	cell line	LNCAP
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002071	"Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." []	558736	\N	\N	EFO	2	EFO	cell line	LNCAP
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002071	"Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." []	1140886	\N	\N	EFO	3	EFO	material entity	LNCAP
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002071	"Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive." []	2023836	\N	\N	EFO	4	EFO	experimental factor	LNCAP
EFO:0002072	\N	\N	"" []	EFO:0002072	"" []	64950	\N	\N	EFO	0	EFO	MCF-7aro	MCF-7aro
EFO:0002888	EFO:0002072	\N	"" []	EFO:0002072	"" []	205636	\N	\N	EFO	1	EFO	Homo sapiens cell line	MCF-7aro
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002072	"" []	558737	\N	\N	EFO	2	EFO	cell line	MCF-7aro
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002072	"" []	1140887	\N	\N	EFO	3	EFO	material entity	MCF-7aro
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002072	"" []	2023837	\N	\N	EFO	4	EFO	experimental factor	MCF-7aro
EFO:0002073	\N	\N	"" []	EFO:0002073	"" []	64951	\N	\N	EFO	0	EFO	mIMCD-3	mIMCD-3
EFO:0002887	EFO:0002073	\N	"Cell lines derived from mice." []	EFO:0002073	"" []	205637	\N	\N	EFO	1	EFO	mouse cell line	mIMCD-3
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002073	"" []	558738	\N	\N	EFO	2	EFO	cell line	mIMCD-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002073	"" []	1140888	\N	\N	EFO	3	EFO	material entity	mIMCD-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002073	"" []	2023838	\N	\N	EFO	4	EFO	experimental factor	mIMCD-3
EFO:0002074	\N	\N	"Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment." []	EFO:0002074	"Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment." []	64952	\N	\N	EFO	0	EFO	PC-3	PC-3
EFO:0002888	EFO:0002074	\N	"" []	EFO:0002074	"Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment." []	205638	\N	\N	EFO	1	EFO	Homo sapiens cell line	PC-3
EFO:0002891	EFO:0002074	\N	"Any cell line that is derived from the prostate." []	EFO:0002074	"Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment." []	205639	\N	\N	EFO	1	EFO	prostate derived cell line	PC-3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002074	"Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment." []	558739	\N	\N	EFO	2	EFO	cell line	PC-3
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002074	"Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment." []	558740	\N	\N	EFO	2	EFO	cell line	PC-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002074	"Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment." []	1140889	\N	\N	EFO	3	EFO	material entity	PC-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002074	"Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment." []	2023839	\N	\N	EFO	4	EFO	experimental factor	PC-3
EFO:0002075	\N	\N	"PEL-5 is a human primary effusion lymphoma cell line" []	EFO:0002075	"PEL-5 is a human primary effusion lymphoma cell line" []	64953	\N	\N	EFO	0	EFO	PEL-5	PEL-5
EFO:0002888	EFO:0002075	\N	"" []	EFO:0002075	"PEL-5 is a human primary effusion lymphoma cell line" []	205640	\N	\N	EFO	1	EFO	Homo sapiens cell line	PEL-5
EFO:0002937	EFO:0002075	\N	"" []	EFO:0002075	"PEL-5 is a human primary effusion lymphoma cell line" []	205641	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	PEL-5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002075	"PEL-5 is a human primary effusion lymphoma cell line" []	558741	\N	\N	EFO	2	EFO	cell line	PEL-5
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002075	"PEL-5 is a human primary effusion lymphoma cell line" []	558742	\N	\N	EFO	2	EFO	cancer cell line	PEL-5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002075	"PEL-5 is a human primary effusion lymphoma cell line" []	2023841	\N	\N	EFO	4	EFO	material entity	PEL-5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002075	"PEL-5 is a human primary effusion lymphoma cell line" []	1140891	\N	\N	EFO	3	EFO	cell line	PEL-5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002075	"PEL-5 is a human primary effusion lymphoma cell line" []	2999327	\N	\N	EFO	5	EFO	experimental factor	PEL-5
EFO:0002076	\N	\N	"R1 is a mouse embryonic stem cell line." []	EFO:0002076	"R1 is a mouse embryonic stem cell line." []	64954	\N	\N	EFO	0	EFO	R1	R1
EFO:0002887	EFO:0002076	\N	"Cell lines derived from mice." []	EFO:0002076	"R1 is a mouse embryonic stem cell line." []	205642	\N	\N	EFO	1	EFO	mouse cell line	R1
EFO:0003040	EFO:0002076	\N	"" []	EFO:0002076	"R1 is a mouse embryonic stem cell line." []	205643	\N	\N	EFO	1	EFO	embryonic cell line	R1
EFO:0005738	EFO:0002076	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0002076	"R1 is a mouse embryonic stem cell line." []	205644	\N	\N	EFO	1	EFO	ESC derived cell line	R1
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002076	"R1 is a mouse embryonic stem cell line." []	558743	\N	\N	EFO	2	EFO	cell line	R1
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002076	"R1 is a mouse embryonic stem cell line." []	558744	\N	\N	EFO	2	EFO	cell line	R1
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0002076	"R1 is a mouse embryonic stem cell line." []	558745	\N	\N	EFO	2	EFO	stem cell derived cell line	R1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002076	"R1 is a mouse embryonic stem cell line." []	2023843	\N	\N	EFO	4	EFO	material entity	R1
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002076	"R1 is a mouse embryonic stem cell line." []	1140893	\N	\N	EFO	3	EFO	cell line	R1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002076	"R1 is a mouse embryonic stem cell line." []	2999328	\N	\N	EFO	5	EFO	experimental factor	R1
EFO:0002077	\N	\N	"Ramos cell line is an EBV-negative, HLA class 1 positive B-lymphoblastoid cell line derived from a Burkitt lymphoma" []	EFO:0002077	"Ramos cell line is an EBV-negative, HLA class 1 positive B-lymphoblastoid cell line derived from a Burkitt lymphoma" []	64955	\N	\N	EFO	0	EFO	Ramos	Ramos
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002077	"Ramos cell line is an EBV-negative, HLA class 1 positive B-lymphoblastoid cell line derived from a Burkitt lymphoma" []	194514	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	Ramos
EFO:0002888	EFO:0002077	\N	"" []	EFO:0002077	"Ramos cell line is an EBV-negative, HLA class 1 positive B-lymphoblastoid cell line derived from a Burkitt lymphoma" []	205645	\N	\N	EFO	1	EFO	Homo sapiens cell line	Ramos
EFO:0005292	EFO:0002077	\N	"" []	EFO:0002077	"Ramos cell line is an EBV-negative, HLA class 1 positive B-lymphoblastoid cell line derived from a Burkitt lymphoma" []	205646	\N	\N	EFO	1	EFO	lymphoblastoid cell line	Ramos
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002077	"Ramos cell line is an EBV-negative, HLA class 1 positive B-lymphoblastoid cell line derived from a Burkitt lymphoma" []	558746	\N	\N	EFO	2	EFO	cell line	Ramos
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002077	"Ramos cell line is an EBV-negative, HLA class 1 positive B-lymphoblastoid cell line derived from a Burkitt lymphoma" []	558747	\N	\N	EFO	2	EFO	cell line	Ramos
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002077	"Ramos cell line is an EBV-negative, HLA class 1 positive B-lymphoblastoid cell line derived from a Burkitt lymphoma" []	1140894	\N	\N	EFO	3	EFO	material entity	Ramos
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002077	"Ramos cell line is an EBV-negative, HLA class 1 positive B-lymphoblastoid cell line derived from a Burkitt lymphoma" []	2023844	\N	\N	EFO	4	EFO	experimental factor	Ramos
EFO:0002078	\N	\N	"" []	EFO:0002078	"" []	64956	\N	\N	EFO	0	EFO	S1	S1
EFO:0002935	EFO:0002078	\N	"" []	EFO:0002078	"" []	205647	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	S1
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002078	"" []	558748	\N	\N	EFO	2	EFO	cell line	S1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002078	"" []	1140895	\N	\N	EFO	3	EFO	material entity	S1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002078	"" []	2023845	\N	\N	EFO	4	EFO	experimental factor	S1
EFO:0002079	\N	\N	"" []	EFO:0002079	"" []	64957	\N	\N	EFO	0	EFO	SK-MEL-2	SK-MEL-2
BTO:0000849	EFO:0002079	\N	"" []	EFO:0002079	"" []	205648	\N	\N	EFO	1	EFO	melanoma cell line	SK-MEL-2
EFO:0002888	EFO:0002079	\N	"" []	EFO:0002079	"" []	205649	\N	\N	EFO	1	EFO	Homo sapiens cell line	SK-MEL-2
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002079	"" []	558749	\N	\N	EFO	2	EFO	cancer cell line	SK-MEL-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002079	"" []	558750	\N	\N	EFO	2	EFO	cell line	SK-MEL-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002079	"" []	1140896	\N	\N	EFO	3	EFO	cell line	SK-MEL-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002079	"" []	2023846	\N	\N	EFO	4	EFO	material entity	SK-MEL-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002079	"" []	2999329	\N	\N	EFO	5	EFO	experimental factor	SK-MEL-2
EFO:0002081	\N	\N	"" []	EFO:0002081	"" []	64958	\N	\N	EFO	0	EFO	SN56.B5.G4	SN56.B5.G4
EFO:0002035	EFO:0002081	\N	"" []	EFO:0002081	"" []	205650	\N	\N	EFO	1	EFO	murine neuroblastoma cholinergic cell line	SN56.B5.G4
EFO:0005214	EFO:0002081	\N	"A cell line which is a model for neuroblastoma." []	EFO:0002081	"" []	205651	\N	\N	EFO	1	EFO	neuroblastoma cell line	SN56.B5.G4
EFO:0002887	EFO:0002035	\N	"Cell lines derived from mice." []	EFO:0002081	"" []	558751	\N	\N	EFO	2	EFO	mouse cell line	SN56.B5.G4
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002081	"" []	558752	\N	\N	EFO	2	EFO	cell line	SN56.B5.G4
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002081	"" []	1140898	\N	\N	EFO	3	EFO	cell line	SN56.B5.G4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002081	"" []	2023848	\N	\N	EFO	4	EFO	material entity	SN56.B5.G4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002081	"" []	2999330	\N	\N	EFO	5	EFO	experimental factor	SN56.B5.G4
EFO:0002083	\N	\N	"" []	EFO:0002083	"" []	64959	\N	\N	EFO	0	EFO	SW480	SW480
BTO:0000797	\N	\N	"" []	EFO:0002083	"" []	194515	\N	\N	EFO	0	EFO	colonic cancer cell line	SW480
EFO:0001639	EFO:0002083	\N	"" []	EFO:0002083	"" []	205652	\N	\N	EFO	1	EFO	cancer cell line	SW480
EFO:0002888	EFO:0002083	\N	"" []	EFO:0002083	"" []	205653	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW480
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002083	"" []	558753	\N	\N	EFO	2	EFO	cell line	SW480
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002083	"" []	558754	\N	\N	EFO	2	EFO	cell line	SW480
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002083	"" []	1140900	\N	\N	EFO	3	EFO	material entity	SW480
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002083	"" []	2023850	\N	\N	EFO	4	EFO	experimental factor	SW480
EFO:0002084	\N	\N	"" []	EFO:0002084	"" []	64960	\N	\N	EFO	0	EFO	T84	T84
BTO:0000797	\N	\N	"" []	EFO:0002084	"" []	194516	\N	\N	EFO	0	EFO	colonic cancer cell line	T84
EFO:0001639	EFO:0002084	\N	"" []	EFO:0002084	"" []	205654	\N	\N	EFO	1	EFO	cancer cell line	T84
EFO:0002888	EFO:0002084	\N	"" []	EFO:0002084	"" []	205655	\N	\N	EFO	1	EFO	Homo sapiens cell line	T84
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002084	"" []	558755	\N	\N	EFO	2	EFO	cell line	T84
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002084	"" []	558756	\N	\N	EFO	2	EFO	cell line	T84
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002084	"" []	1140901	\N	\N	EFO	3	EFO	material entity	T84
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002084	"" []	2023851	\N	\N	EFO	4	EFO	experimental factor	T84
EFO:0002085	\N	\N	"Human, Caucasian, glioblastoma cell line." []	EFO:0002085	"Human, Caucasian, glioblastoma cell line." []	64961	\N	\N	EFO	0	EFO	T98G	T98G
EFO:0001639	EFO:0002085	\N	"" []	EFO:0002085	"Human, Caucasian, glioblastoma cell line." []	205656	\N	\N	EFO	1	EFO	cancer cell line	T98G
EFO:0002888	EFO:0002085	\N	"" []	EFO:0002085	"Human, Caucasian, glioblastoma cell line." []	205657	\N	\N	EFO	1	EFO	Homo sapiens cell line	T98G
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002085	"Human, Caucasian, glioblastoma cell line." []	558757	\N	\N	EFO	2	EFO	cell line	T98G
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002085	"Human, Caucasian, glioblastoma cell line." []	558758	\N	\N	EFO	2	EFO	cell line	T98G
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002085	"Human, Caucasian, glioblastoma cell line." []	1140902	\N	\N	EFO	3	EFO	material entity	T98G
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002085	"Human, Caucasian, glioblastoma cell line." []	2023852	\N	\N	EFO	4	EFO	experimental factor	T98G
EFO:0002086	\N	\N	"TIVE is a human cell line." []	EFO:0002086	"TIVE is a human cell line." []	64962	\N	\N	EFO	0	EFO	TIVE	TIVE
EFO:0002888	EFO:0002086	\N	"" []	EFO:0002086	"TIVE is a human cell line." []	205658	\N	\N	EFO	1	EFO	Homo sapiens cell line	TIVE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002086	"TIVE is a human cell line." []	558759	\N	\N	EFO	2	EFO	cell line	TIVE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002086	"TIVE is a human cell line." []	1140903	\N	\N	EFO	3	EFO	material entity	TIVE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002086	"TIVE is a human cell line." []	2023853	\N	\N	EFO	4	EFO	experimental factor	TIVE
EFO:0002087	\N	\N	"" []	EFO:0002087	"" []	64963	\N	\N	EFO	0	EFO	fibrosarcoma	fibrosarcoma
EFO:0000691	EFO:0002087	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0002087	"" []	205659	\N	\N	EFO	1	EFO	sarcoma	fibrosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002087	"" []	558760	\N	\N	EFO	2	EFO	cancer	fibrosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002087	"" []	1140904	\N	\N	EFO	3	EFO	neoplasm	fibrosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002087	"" []	2023854	\N	\N	EFO	4	EFO	disease	fibrosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002087	"" []	3177431	\N	\N	EFO	5	EFO	disposition	fibrosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002087	"" []	4387741	\N	\N	EFO	6	EFO	material property	fibrosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002087	"" []	5408600	\N	\N	EFO	7	EFO	experimental factor	fibrosarcoma
EFO:0002090	\N	\N	"A technical replicate is a replicate role where the same BioSample is use e.g. the same pool of RNA used to assess technical (as opposed to biological) variation within an experiment." []	EFO:0002090	"A technical replicate is a replicate role where the same BioSample is use e.g. the same pool of RNA used to assess technical (as opposed to biological) variation within an experiment." []	64964	\N	\N	EFO	0	EFO	technical replicate	technical replicate
EFO:0000683	EFO:0002090	\N	"A role played by a a biological sample in the context of an experiment where the intent is that biological or technical variation is measured." []	EFO:0002090	"A technical replicate is a replicate role where the same BioSample is use e.g. the same pool of RNA used to assess technical (as opposed to biological) variation within an experiment." []	205660	\N	\N	EFO	1	EFO	replicate	technical replicate
EFO:0004107	EFO:0002090	\N	"Quality control type permitted in Atlas" []	EFO:0002090	"A technical replicate is a replicate role where the same BioSample is use e.g. the same pool of RNA used to assess technical (as opposed to biological) variation within an experiment." []	205661	\N	\N	EFO	1	EFO	Atlas Quality Control type	technical replicate
BFO:0000023	EFO:0000683	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0002090	"A technical replicate is a replicate role where the same BioSample is use e.g. the same pool of RNA used to assess technical (as opposed to biological) variation within an experiment." []	558761	\N	\N	EFO	2	EFO	role	technical replicate
BFO:0000023	EFO:0004107	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0002090	"A technical replicate is a replicate role where the same BioSample is use e.g. the same pool of RNA used to assess technical (as opposed to biological) variation within an experiment." []	558762	\N	\N	EFO	2	EFO	role	technical replicate
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002090	"A technical replicate is a replicate role where the same BioSample is use e.g. the same pool of RNA used to assess technical (as opposed to biological) variation within an experiment." []	1140905	\N	\N	EFO	3	EFO	material property	technical replicate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002090	"A technical replicate is a replicate role where the same BioSample is use e.g. the same pool of RNA used to assess technical (as opposed to biological) variation within an experiment." []	2023855	\N	\N	EFO	4	EFO	experimental factor	technical replicate
EFO:0002091	\N	\N	"A biological replicate is a replicate role that consists of independent biological replicates made from different individual biosamples." []	EFO:0002091	"A biological replicate is a replicate role that consists of independent biological replicates made from different individual biosamples." []	64965	\N	\N	EFO	0	EFO	biological replicate	biological replicate
EFO:0000683	EFO:0002091	\N	"A role played by a a biological sample in the context of an experiment where the intent is that biological or technical variation is measured." []	EFO:0002091	"A biological replicate is a replicate role that consists of independent biological replicates made from different individual biosamples." []	205662	\N	\N	EFO	1	EFO	replicate	biological replicate
EFO:0004107	EFO:0002091	\N	"Quality control type permitted in Atlas" []	EFO:0002091	"A biological replicate is a replicate role that consists of independent biological replicates made from different individual biosamples." []	205663	\N	\N	EFO	1	EFO	Atlas Quality Control type	biological replicate
BFO:0000023	EFO:0000683	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0002091	"A biological replicate is a replicate role that consists of independent biological replicates made from different individual biosamples." []	558763	\N	\N	EFO	2	EFO	role	biological replicate
BFO:0000023	EFO:0004107	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0002091	"A biological replicate is a replicate role that consists of independent biological replicates made from different individual biosamples." []	558764	\N	\N	EFO	2	EFO	role	biological replicate
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002091	"A biological replicate is a replicate role that consists of independent biological replicates made from different individual biosamples." []	1140906	\N	\N	EFO	3	EFO	material property	biological replicate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002091	"A biological replicate is a replicate role that consists of independent biological replicates made from different individual biosamples." []	2023856	\N	\N	EFO	4	EFO	experimental factor	biological replicate
EFO:0002092	\N	\N	"A dye swap replicate is a replicate role which is borne by one of a pair of replicate assays in which LabeledExtracts derived from the same BioMaterial used for both assays (e.g., a hybridization or a 2-D gel run) differ only in that the dyes used for labeling have been reversed, e.g., assay 1: A-Cy3 vs. B-Cy5, and assay 2: A-Cy5 vs. B-Cy3. The purpose of using dye-swap replicate pairs is to assess or remove dye-specific biases from the combined experimental results." []	EFO:0002092	"A dye swap replicate is a replicate role which is borne by one of a pair of replicate assays in which LabeledExtracts derived from the same BioMaterial used for both assays (e.g., a hybridization or a 2-D gel run) differ only in that the dyes used for labeling have been reversed, e.g., assay 1: A-Cy3 vs. B-Cy5, and assay 2: A-Cy5 vs. B-Cy3. The purpose of using dye-swap replicate pairs is to assess or remove dye-specific biases from the combined experimental results." []	64966	\N	\N	EFO	0	EFO	dye swap replicate	dye swap replicate
EFO:0000683	EFO:0002092	\N	"A role played by a a biological sample in the context of an experiment where the intent is that biological or technical variation is measured." []	EFO:0002092	"A dye swap replicate is a replicate role which is borne by one of a pair of replicate assays in which LabeledExtracts derived from the same BioMaterial used for both assays (e.g., a hybridization or a 2-D gel run) differ only in that the dyes used for labeling have been reversed, e.g., assay 1: A-Cy3 vs. B-Cy5, and assay 2: A-Cy5 vs. B-Cy3. The purpose of using dye-swap replicate pairs is to assess or remove dye-specific biases from the combined experimental results." []	205664	\N	\N	EFO	1	EFO	replicate	dye swap replicate
BFO:0000023	EFO:0000683	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0002092	"A dye swap replicate is a replicate role which is borne by one of a pair of replicate assays in which LabeledExtracts derived from the same BioMaterial used for both assays (e.g., a hybridization or a 2-D gel run) differ only in that the dyes used for labeling have been reversed, e.g., assay 1: A-Cy3 vs. B-Cy5, and assay 2: A-Cy5 vs. B-Cy3. The purpose of using dye-swap replicate pairs is to assess or remove dye-specific biases from the combined experimental results." []	558765	\N	\N	EFO	2	EFO	role	dye swap replicate
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002092	"A dye swap replicate is a replicate role which is borne by one of a pair of replicate assays in which LabeledExtracts derived from the same BioMaterial used for both assays (e.g., a hybridization or a 2-D gel run) differ only in that the dyes used for labeling have been reversed, e.g., assay 1: A-Cy3 vs. B-Cy5, and assay 2: A-Cy5 vs. B-Cy3. The purpose of using dye-swap replicate pairs is to assess or remove dye-specific biases from the combined experimental results." []	1140907	\N	\N	EFO	3	EFO	material property	dye swap replicate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002092	"A dye swap replicate is a replicate role which is borne by one of a pair of replicate assays in which LabeledExtracts derived from the same BioMaterial used for both assays (e.g., a hybridization or a 2-D gel run) differ only in that the dyes used for labeling have been reversed, e.g., assay 1: A-Cy3 vs. B-Cy5, and assay 2: A-Cy5 vs. B-Cy3. The purpose of using dye-swap replicate pairs is to assess or remove dye-specific biases from the combined experimental results." []	2023857	\N	\N	EFO	4	EFO	experimental factor	dye swap replicate
EFO:0002094	\N	\N	"" []	EFO:0002094	"" []	64967	\N	\N	EFO	0	EFO	1A2	1A2
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002094	"" []	194517	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	1A2
EFO:0002883	EFO:0002094	\N	"Cell lines that are part of the haemopoietic system." []	EFO:0002094	"" []	205665	\N	\N	EFO	1	EFO	haemopoietic system cell line	1A2
EFO:0002888	EFO:0002094	\N	"" []	EFO:0002094	"" []	205666	\N	\N	EFO	1	EFO	Homo sapiens cell line	1A2
EFO:0000322	EFO:0002883	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002094	"" []	558766	\N	\N	EFO	2	EFO	cell line	1A2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002094	"" []	558767	\N	\N	EFO	2	EFO	cell line	1A2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002094	"" []	1140908	\N	\N	EFO	3	EFO	material entity	1A2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002094	"" []	2023858	\N	\N	EFO	4	EFO	experimental factor	1A2
EFO:0002095	\N	\N	"A 22rv1 is a cell line.\\nA 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	EFO:0002095	"A 22rv1 is a cell line.\\nA 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	64968	\N	\N	EFO	0	EFO	22Rv1	22Rv1
EFO:0001639	EFO:0002095	\N	"" []	EFO:0002095	"A 22rv1 is a cell line.\\nA 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	205667	\N	\N	EFO	1	EFO	cancer cell line	22Rv1
EFO:0002888	EFO:0002095	\N	"" []	EFO:0002095	"A 22rv1 is a cell line.\\nA 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	205668	\N	\N	EFO	1	EFO	Homo sapiens cell line	22Rv1
EFO:0002891	EFO:0002095	\N	"Any cell line that is derived from the prostate." []	EFO:0002095	"A 22rv1 is a cell line.\\nA 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	205669	\N	\N	EFO	1	EFO	prostate derived cell line	22Rv1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002095	"A 22rv1 is a cell line.\\nA 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	558768	\N	\N	EFO	2	EFO	cell line	22Rv1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002095	"A 22rv1 is a cell line.\\nA 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	558769	\N	\N	EFO	2	EFO	cell line	22Rv1
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002095	"A 22rv1 is a cell line.\\nA 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	558770	\N	\N	EFO	2	EFO	cell line	22Rv1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002095	"A 22rv1 is a cell line.\\nA 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	1140909	\N	\N	EFO	3	EFO	material entity	22Rv1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002095	"A 22rv1 is a cell line.\\nA 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	2023859	\N	\N	EFO	4	EFO	experimental factor	22Rv1
EFO:0002096	\N	\N	"" []	EFO:0002096	"" []	64969	\N	\N	EFO	0	EFO	5637	5637
EFO:0001639	EFO:0002096	\N	"" []	EFO:0002096	"" []	205670	\N	\N	EFO	1	EFO	cancer cell line	5637
EFO:0002888	EFO:0002096	\N	"" []	EFO:0002096	"" []	205671	\N	\N	EFO	1	EFO	Homo sapiens cell line	5637
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002096	"" []	558771	\N	\N	EFO	2	EFO	cell line	5637
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002096	"" []	558772	\N	\N	EFO	2	EFO	cell line	5637
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002096	"" []	1140910	\N	\N	EFO	3	EFO	material entity	5637
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002096	"" []	2023860	\N	\N	EFO	4	EFO	experimental factor	5637
EFO:0002097	\N	\N	"" []	EFO:0002097	"" []	64970	\N	\N	EFO	0	EFO	639V	639V
EFO:0001639	EFO:0002097	\N	"" []	EFO:0002097	"" []	205672	\N	\N	EFO	1	EFO	cancer cell line	639V
EFO:0002888	EFO:0002097	\N	"" []	EFO:0002097	"" []	205673	\N	\N	EFO	1	EFO	Homo sapiens cell line	639V
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002097	"" []	558773	\N	\N	EFO	2	EFO	cell line	639V
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002097	"" []	558774	\N	\N	EFO	2	EFO	cell line	639V
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002097	"" []	1140911	\N	\N	EFO	3	EFO	material entity	639V
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002097	"" []	2023861	\N	\N	EFO	4	EFO	experimental factor	639V
EFO:0002098	\N	\N	"" []	EFO:0002098	"" []	64971	\N	\N	EFO	0	EFO	647V	647V
EFO:0001639	EFO:0002098	\N	"" []	EFO:0002098	"" []	205674	\N	\N	EFO	1	EFO	cancer cell line	647V
EFO:0002888	EFO:0002098	\N	"" []	EFO:0002098	"" []	205675	\N	\N	EFO	1	EFO	Homo sapiens cell line	647V
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002098	"" []	558775	\N	\N	EFO	2	EFO	cell line	647V
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002098	"" []	558776	\N	\N	EFO	2	EFO	cell line	647V
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002098	"" []	1140912	\N	\N	EFO	3	EFO	material entity	647V
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002098	"" []	2023862	\N	\N	EFO	4	EFO	experimental factor	647V
EFO:0002099	\N	\N	"" []	EFO:0002099	"" []	64972	\N	\N	EFO	0	EFO	769P	769P
EFO:0001639	EFO:0002099	\N	"" []	EFO:0002099	"" []	205676	\N	\N	EFO	1	EFO	cancer cell line	769P
EFO:0001643	EFO:0002099	\N	"" []	EFO:0002099	"" []	205677	\N	\N	EFO	1	EFO	kidney derived cell line	769P
EFO:0002888	EFO:0002099	\N	"" []	EFO:0002099	"" []	205678	\N	\N	EFO	1	EFO	Homo sapiens cell line	769P
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002099	"" []	558777	\N	\N	EFO	2	EFO	cell line	769P
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002099	"" []	558778	\N	\N	EFO	2	EFO	cell line	769P
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002099	"" []	558779	\N	\N	EFO	2	EFO	cell line	769P
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002099	"" []	1140913	\N	\N	EFO	3	EFO	material entity	769P
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002099	"" []	2023863	\N	\N	EFO	4	EFO	experimental factor	769P
EFO:0002100	\N	\N	"An a101d is a cell line.\\nAn a101d is all of the following: something that is bearer of a melanoma, something that derives from a homo sapiens, and something that derives from a skin." []	EFO:0002100	"An a101d is a cell line.\\nAn a101d is all of the following: something that is bearer of a melanoma, something that derives from a homo sapiens, and something that derives from a skin." []	64973	\N	\N	EFO	0	EFO	A101D	A101D
BTO:0000849	EFO:0002100	\N	"" []	EFO:0002100	"An a101d is a cell line.\\nAn a101d is all of the following: something that is bearer of a melanoma, something that derives from a homo sapiens, and something that derives from a skin." []	205679	\N	\N	EFO	1	EFO	melanoma cell line	A101D
EFO:0002888	EFO:0002100	\N	"" []	EFO:0002100	"An a101d is a cell line.\\nAn a101d is all of the following: something that is bearer of a melanoma, something that derives from a homo sapiens, and something that derives from a skin." []	205680	\N	\N	EFO	1	EFO	Homo sapiens cell line	A101D
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002100	"An a101d is a cell line.\\nAn a101d is all of the following: something that is bearer of a melanoma, something that derives from a homo sapiens, and something that derives from a skin." []	558780	\N	\N	EFO	2	EFO	cancer cell line	A101D
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002100	"An a101d is a cell line.\\nAn a101d is all of the following: something that is bearer of a melanoma, something that derives from a homo sapiens, and something that derives from a skin." []	558781	\N	\N	EFO	2	EFO	cell line	A101D
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002100	"An a101d is a cell line.\\nAn a101d is all of the following: something that is bearer of a melanoma, something that derives from a homo sapiens, and something that derives from a skin." []	1140914	\N	\N	EFO	3	EFO	cell line	A101D
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002100	"An a101d is a cell line.\\nAn a101d is all of the following: something that is bearer of a melanoma, something that derives from a homo sapiens, and something that derives from a skin." []	2023864	\N	\N	EFO	4	EFO	material entity	A101D
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002100	"An a101d is a cell line.\\nAn a101d is all of the following: something that is bearer of a melanoma, something that derives from a homo sapiens, and something that derives from a skin." []	2999331	\N	\N	EFO	5	EFO	experimental factor	A101D
EFO:0002101	\N	\N	"" []	EFO:0002101	"" []	64974	\N	\N	EFO	0	EFO	A172	A172
EFO:0001639	EFO:0002101	\N	"" []	EFO:0002101	"" []	205681	\N	\N	EFO	1	EFO	cancer cell line	A172
EFO:0002888	EFO:0002101	\N	"" []	EFO:0002101	"" []	205682	\N	\N	EFO	1	EFO	Homo sapiens cell line	A172
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002101	"" []	558782	\N	\N	EFO	2	EFO	cell line	A172
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002101	"" []	558783	\N	\N	EFO	2	EFO	cell line	A172
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002101	"" []	1140916	\N	\N	EFO	3	EFO	material entity	A172
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002101	"" []	2023866	\N	\N	EFO	4	EFO	experimental factor	A172
EFO:0002102	\N	\N	"" []	EFO:0002102	"" []	64975	\N	\N	EFO	0	EFO	A204	A204
EFO:0001639	EFO:0002102	\N	"" []	EFO:0002102	"" []	205683	\N	\N	EFO	1	EFO	cancer cell line	A204
EFO:0002888	EFO:0002102	\N	"" []	EFO:0002102	"" []	205684	\N	\N	EFO	1	EFO	Homo sapiens cell line	A204
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002102	"" []	558784	\N	\N	EFO	2	EFO	cell line	A204
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002102	"" []	558785	\N	\N	EFO	2	EFO	cell line	A204
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002102	"" []	1140917	\N	\N	EFO	3	EFO	material entity	A204
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002102	"" []	2023867	\N	\N	EFO	4	EFO	experimental factor	A204
EFO:0002103	\N	\N	"" []	EFO:0002103	"" []	64976	\N	\N	EFO	0	EFO	A375	A375
BTO:0000849	EFO:0002103	\N	"" []	EFO:0002103	"" []	205685	\N	\N	EFO	1	EFO	melanoma cell line	A375
EFO:0002888	EFO:0002103	\N	"" []	EFO:0002103	"" []	205686	\N	\N	EFO	1	EFO	Homo sapiens cell line	A375
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002103	"" []	558786	\N	\N	EFO	2	EFO	cancer cell line	A375
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002103	"" []	558787	\N	\N	EFO	2	EFO	cell line	A375
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002103	"" []	1140918	\N	\N	EFO	3	EFO	cell line	A375
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002103	"" []	2023868	\N	\N	EFO	4	EFO	material entity	A375
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002103	"" []	2999332	\N	\N	EFO	5	EFO	experimental factor	A375
EFO:0002104	\N	\N	"" []	EFO:0002104	"" []	64977	\N	\N	EFO	0	EFO	A427	A427
EFO:0002888	EFO:0002104	\N	"" []	EFO:0002104	"" []	205687	\N	\N	EFO	1	EFO	Homo sapiens cell line	A427
EFO:0002934	EFO:0002104	\N	"" []	EFO:0002104	"" []	205688	\N	\N	EFO	1	EFO	lung cancer cell line	A427
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002104	"" []	558788	\N	\N	EFO	2	EFO	cell line	A427
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002104	"" []	558789	\N	\N	EFO	2	EFO	cancer cell line	A427
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002104	"" []	2023871	\N	\N	EFO	4	EFO	material entity	A427
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002104	"" []	1140921	\N	\N	EFO	3	EFO	cell line	A427
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002104	"" []	2999333	\N	\N	EFO	5	EFO	experimental factor	A427
EFO:0002105	\N	\N	"" []	EFO:0002105	"" []	64978	\N	\N	EFO	0	EFO	A498	A498
EFO:0001639	EFO:0002105	\N	"" []	EFO:0002105	"" []	205689	\N	\N	EFO	1	EFO	cancer cell line	A498
EFO:0001643	EFO:0002105	\N	"" []	EFO:0002105	"" []	205690	\N	\N	EFO	1	EFO	kidney derived cell line	A498
EFO:0002888	EFO:0002105	\N	"" []	EFO:0002105	"" []	205691	\N	\N	EFO	1	EFO	Homo sapiens cell line	A498
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002105	"" []	558790	\N	\N	EFO	2	EFO	cell line	A498
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002105	"" []	558791	\N	\N	EFO	2	EFO	cell line	A498
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002105	"" []	558792	\N	\N	EFO	2	EFO	cell line	A498
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002105	"" []	1140922	\N	\N	EFO	3	EFO	material entity	A498
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002105	"" []	2023872	\N	\N	EFO	4	EFO	experimental factor	A498
EFO:0002106	\N	\N	"" []	EFO:0002106	"" []	64979	\N	\N	EFO	0	EFO	A673	A673
EFO:0001639	EFO:0002106	\N	"" []	EFO:0002106	"" []	205692	\N	\N	EFO	1	EFO	cancer cell line	A673
EFO:0002888	EFO:0002106	\N	"" []	EFO:0002106	"" []	205693	\N	\N	EFO	1	EFO	Homo sapiens cell line	A673
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002106	"" []	558793	\N	\N	EFO	2	EFO	cell line	A673
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002106	"" []	558794	\N	\N	EFO	2	EFO	cell line	A673
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002106	"" []	1140923	\N	\N	EFO	3	EFO	material entity	A673
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002106	"" []	2023873	\N	\N	EFO	4	EFO	experimental factor	A673
EFO:0002107	\N	\N	"" []	EFO:0002107	"" []	64980	\N	\N	EFO	0	EFO	A7	A7
BTO:0000849	EFO:0002107	\N	"" []	EFO:0002107	"" []	205694	\N	\N	EFO	1	EFO	melanoma cell line	A7
EFO:0002888	EFO:0002107	\N	"" []	EFO:0002107	"" []	205695	\N	\N	EFO	1	EFO	Homo sapiens cell line	A7
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002107	"" []	558795	\N	\N	EFO	2	EFO	cancer cell line	A7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002107	"" []	558796	\N	\N	EFO	2	EFO	cell line	A7
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002107	"" []	1140924	\N	\N	EFO	3	EFO	cell line	A7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002107	"" []	2023874	\N	\N	EFO	4	EFO	material entity	A7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002107	"" []	2999334	\N	\N	EFO	5	EFO	experimental factor	A7
EFO:0002108	\N	\N	"" []	EFO:0002108	"" []	64981	\N	\N	EFO	0	EFO	ACHN	ACHN
EFO:0001639	EFO:0002108	\N	"" []	EFO:0002108	"" []	205696	\N	\N	EFO	1	EFO	cancer cell line	ACHN
EFO:0001643	EFO:0002108	\N	"" []	EFO:0002108	"" []	205697	\N	\N	EFO	1	EFO	kidney derived cell line	ACHN
EFO:0002888	EFO:0002108	\N	"" []	EFO:0002108	"" []	205698	\N	\N	EFO	1	EFO	Homo sapiens cell line	ACHN
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002108	"" []	558797	\N	\N	EFO	2	EFO	cell line	ACHN
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002108	"" []	558798	\N	\N	EFO	2	EFO	cell line	ACHN
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002108	"" []	558799	\N	\N	EFO	2	EFO	cell line	ACHN
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002108	"" []	1140926	\N	\N	EFO	3	EFO	material entity	ACHN
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002108	"" []	2023876	\N	\N	EFO	4	EFO	experimental factor	ACHN
EFO:0002109	\N	\N	"" []	EFO:0002109	"" []	64982	\N	\N	EFO	0	EFO	AGS	AGS
EFO:0001639	EFO:0002109	\N	"" []	EFO:0002109	"" []	205699	\N	\N	EFO	1	EFO	cancer cell line	AGS
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002109	"" []	558800	\N	\N	EFO	2	EFO	cell line	AGS
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002109	"" []	1140927	\N	\N	EFO	3	EFO	material entity	AGS
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002109	"" []	2023877	\N	\N	EFO	4	EFO	experimental factor	AGS
EFO:0002110	\N	\N	"" []	EFO:0002110	"" []	64983	\N	\N	EFO	0	EFO	AN3CA	AN3CA
EFO:0001639	EFO:0002110	\N	"" []	EFO:0002110	"" []	205700	\N	\N	EFO	1	EFO	cancer cell line	AN3CA
EFO:0002888	EFO:0002110	\N	"" []	EFO:0002110	"" []	205701	\N	\N	EFO	1	EFO	Homo sapiens cell line	AN3CA
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002110	"" []	558801	\N	\N	EFO	2	EFO	cell line	AN3CA
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002110	"" []	558802	\N	\N	EFO	2	EFO	cell line	AN3CA
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002110	"" []	1140928	\N	\N	EFO	3	EFO	material entity	AN3CA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002110	"" []	2023878	\N	\N	EFO	4	EFO	experimental factor	AN3CA
EFO:0002111	\N	\N	"An arh77 is a cell line.\\nAn arh77 is both something that is bearer of a plasma cell neoplasm, and something that derives from a lymphatic system." []	EFO:0002111	"An arh77 is a cell line.\\nAn arh77 is both something that is bearer of a plasma cell neoplasm, and something that derives from a lymphatic system." []	64984	\N	\N	EFO	0	EFO	ARH77	ARH77
EFO:0001639	EFO:0002111	\N	"" []	EFO:0002111	"An arh77 is a cell line.\\nAn arh77 is both something that is bearer of a plasma cell neoplasm, and something that derives from a lymphatic system." []	205702	\N	\N	EFO	1	EFO	cancer cell line	ARH77
EFO:0002883	EFO:0002111	\N	"Cell lines that are part of the haemopoietic system." []	EFO:0002111	"An arh77 is a cell line.\\nAn arh77 is both something that is bearer of a plasma cell neoplasm, and something that derives from a lymphatic system." []	205703	\N	\N	EFO	1	EFO	haemopoietic system cell line	ARH77
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002111	"An arh77 is a cell line.\\nAn arh77 is both something that is bearer of a plasma cell neoplasm, and something that derives from a lymphatic system." []	558803	\N	\N	EFO	2	EFO	cell line	ARH77
EFO:0000322	EFO:0002883	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002111	"An arh77 is a cell line.\\nAn arh77 is both something that is bearer of a plasma cell neoplasm, and something that derives from a lymphatic system." []	558804	\N	\N	EFO	2	EFO	cell line	ARH77
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002111	"An arh77 is a cell line.\\nAn arh77 is both something that is bearer of a plasma cell neoplasm, and something that derives from a lymphatic system." []	1140929	\N	\N	EFO	3	EFO	material entity	ARH77
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002111	"An arh77 is a cell line.\\nAn arh77 is both something that is bearer of a plasma cell neoplasm, and something that derives from a lymphatic system." []	2023879	\N	\N	EFO	4	EFO	experimental factor	ARH77
EFO:0002112	\N	\N	"" []	EFO:0002112	"" []	64985	\N	\N	EFO	0	EFO	AsPC1	AsPC1
EFO:0001639	EFO:0002112	\N	"" []	EFO:0002112	"" []	205704	\N	\N	EFO	1	EFO	cancer cell line	AsPC1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002112	"" []	558805	\N	\N	EFO	2	EFO	cell line	AsPC1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002112	"" []	1140930	\N	\N	EFO	3	EFO	material entity	AsPC1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002112	"" []	2023880	\N	\N	EFO	4	EFO	experimental factor	AsPC1
EFO:0002113	\N	\N	"A BDCM is a cell line.\\nA BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system." []	EFO:0002113	"A BDCM is a cell line.\\nA BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system." []	64986	\N	\N	EFO	0	EFO	BDCM	BDCM
EFO:0002883	EFO:0002113	\N	"Cell lines that are part of the haemopoietic system." []	EFO:0002113	"A BDCM is a cell line.\\nA BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system." []	205705	\N	\N	EFO	1	EFO	haemopoietic system cell line	BDCM
EFO:0002888	EFO:0002113	\N	"" []	EFO:0002113	"A BDCM is a cell line.\\nA BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system." []	205706	\N	\N	EFO	1	EFO	Homo sapiens cell line	BDCM
EFO:0002937	EFO:0002113	\N	"" []	EFO:0002113	"A BDCM is a cell line.\\nA BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system." []	205707	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	BDCM
EFO:0000322	EFO:0002883	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002113	"A BDCM is a cell line.\\nA BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system." []	558806	\N	\N	EFO	2	EFO	cell line	BDCM
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002113	"A BDCM is a cell line.\\nA BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system." []	558807	\N	\N	EFO	2	EFO	cell line	BDCM
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002113	"A BDCM is a cell line.\\nA BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system." []	558808	\N	\N	EFO	2	EFO	cancer cell line	BDCM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002113	"A BDCM is a cell line.\\nA BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system." []	2023882	\N	\N	EFO	4	EFO	material entity	BDCM
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002113	"A BDCM is a cell line.\\nA BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system." []	1140932	\N	\N	EFO	3	EFO	cell line	BDCM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002113	"A BDCM is a cell line.\\nA BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system." []	2999335	\N	\N	EFO	5	EFO	experimental factor	BDCM
EFO:0002115	\N	\N	"" []	EFO:0002115	"" []	64987	\N	\N	EFO	0	EFO	BFTC905	BFTC905
EFO:0001639	EFO:0002115	\N	"" []	EFO:0002115	"" []	205708	\N	\N	EFO	1	EFO	cancer cell line	BFTC905
EFO:0002888	EFO:0002115	\N	"" []	EFO:0002115	"" []	205709	\N	\N	EFO	1	EFO	Homo sapiens cell line	BFTC905
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002115	"" []	558809	\N	\N	EFO	2	EFO	cell line	BFTC905
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002115	"" []	558810	\N	\N	EFO	2	EFO	cell line	BFTC905
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002115	"" []	1140933	\N	\N	EFO	3	EFO	material entity	BFTC905
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002115	"" []	2023883	\N	\N	EFO	4	EFO	experimental factor	BFTC905
EFO:0002116	\N	\N	"" []	EFO:0002116	"" []	64988	\N	\N	EFO	0	EFO	BHT101	BHT101
EFO:0001639	EFO:0002116	\N	"" []	EFO:0002116	"" []	205710	\N	\N	EFO	1	EFO	cancer cell line	BHT101
EFO:0002888	EFO:0002116	\N	"" []	EFO:0002116	"" []	205711	\N	\N	EFO	1	EFO	Homo sapiens cell line	BHT101
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002116	"" []	558811	\N	\N	EFO	2	EFO	cell line	BHT101
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002116	"" []	558812	\N	\N	EFO	2	EFO	cell line	BHT101
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002116	"" []	1140934	\N	\N	EFO	3	EFO	material entity	BHT101
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002116	"" []	2023884	\N	\N	EFO	4	EFO	experimental factor	BHT101
EFO:0002117	\N	\N	"A BM1604 is a cell line.\\nA BM1604 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	EFO:0002117	"A BM1604 is a cell line.\\nA BM1604 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	64989	\N	\N	EFO	0	EFO	BM1604	BM1604
EFO:0001639	EFO:0002117	\N	"" []	EFO:0002117	"A BM1604 is a cell line.\\nA BM1604 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	205712	\N	\N	EFO	1	EFO	cancer cell line	BM1604
EFO:0002888	EFO:0002117	\N	"" []	EFO:0002117	"A BM1604 is a cell line.\\nA BM1604 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	205713	\N	\N	EFO	1	EFO	Homo sapiens cell line	BM1604
EFO:0002891	EFO:0002117	\N	"Any cell line that is derived from the prostate." []	EFO:0002117	"A BM1604 is a cell line.\\nA BM1604 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	205714	\N	\N	EFO	1	EFO	prostate derived cell line	BM1604
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002117	"A BM1604 is a cell line.\\nA BM1604 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	558813	\N	\N	EFO	2	EFO	cell line	BM1604
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002117	"A BM1604 is a cell line.\\nA BM1604 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	558814	\N	\N	EFO	2	EFO	cell line	BM1604
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002117	"A BM1604 is a cell line.\\nA BM1604 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	558815	\N	\N	EFO	2	EFO	cell line	BM1604
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002117	"A BM1604 is a cell line.\\nA BM1604 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	1140935	\N	\N	EFO	3	EFO	material entity	BM1604
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002117	"A BM1604 is a cell line.\\nA BM1604 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate." []	2023885	\N	\N	EFO	4	EFO	experimental factor	BM1604
EFO:0002118	\N	\N	"" []	EFO:0002118	"" []	64990	\N	\N	EFO	0	EFO	BV173	BV173
EFO:0002883	EFO:0002118	\N	"Cell lines that are part of the haemopoietic system." []	EFO:0002118	"" []	205715	\N	\N	EFO	1	EFO	haemopoietic system cell line	BV173
EFO:0002888	EFO:0002118	\N	"" []	EFO:0002118	"" []	205716	\N	\N	EFO	1	EFO	Homo sapiens cell line	BV173
EFO:0005294	EFO:0002118	\N	"" []	EFO:0002118	"" []	205717	\N	\N	EFO	1	EFO	chronic myelogenous leukemia cell line	BV173
EFO:0000322	EFO:0002883	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002118	"" []	558816	\N	\N	EFO	2	EFO	cell line	BV173
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002118	"" []	558817	\N	\N	EFO	2	EFO	cell line	BV173
EFO:0002937	EFO:0005294	\N	"" []	EFO:0002118	"" []	558818	\N	\N	EFO	2	EFO	lymphoma or leukaemia cell line	BV173
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002118	"" []	3177432	\N	\N	EFO	5	EFO	material entity	BV173
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002118	"" []	1140937	\N	\N	EFO	3	EFO	cancer cell line	BV173
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002118	"" []	4066682	\N	\N	EFO	6	EFO	experimental factor	BV173
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002118	"" []	2023887	\N	\N	EFO	4	EFO	cell line	BV173
EFO:0002119	\N	\N	"" []	EFO:0002119	"" []	64991	\N	\N	EFO	0	EFO	C32TG	C32TG
BTO:0000849	EFO:0002119	\N	"" []	EFO:0002119	"" []	205718	\N	\N	EFO	1	EFO	melanoma cell line	C32TG
EFO:0002888	EFO:0002119	\N	"" []	EFO:0002119	"" []	205719	\N	\N	EFO	1	EFO	Homo sapiens cell line	C32TG
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002119	"" []	558819	\N	\N	EFO	2	EFO	cancer cell line	C32TG
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002119	"" []	558820	\N	\N	EFO	2	EFO	cell line	C32TG
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002119	"" []	1140938	\N	\N	EFO	3	EFO	cell line	C32TG
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002119	"" []	2023888	\N	\N	EFO	4	EFO	material entity	C32TG
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002119	"" []	2999336	\N	\N	EFO	5	EFO	experimental factor	C32TG
EFO:0002120	\N	\N	"" []	EFO:0002120	"" []	64992	\N	\N	EFO	0	EFO	C33A	C33A
BTO:0001967	\N	\N	"" []	EFO:0002120	"" []	194518	\N	\N	EFO	0	EFO	cervical cancer cell line	C33A
EFO:0002888	EFO:0002120	\N	"" []	EFO:0002120	"" []	205720	\N	\N	EFO	1	EFO	Homo sapiens cell line	C33A
EFO:0005218	EFO:0002120	\N	"A cell line which is used as a model for cervical carcinoma." []	EFO:0002120	"" []	205721	\N	\N	EFO	1	EFO	cervical carcinoma cell line	C33A
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002120	"" []	558821	\N	\N	EFO	2	EFO	cell line	C33A
EFO:0001639	EFO:0005218	\N	"" []	EFO:0002120	"" []	558822	\N	\N	EFO	2	EFO	cancer cell line	C33A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002120	"" []	2023891	\N	\N	EFO	4	EFO	material entity	C33A
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002120	"" []	1140941	\N	\N	EFO	3	EFO	cell line	C33A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002120	"" []	2999337	\N	\N	EFO	5	EFO	experimental factor	C33A
EFO:0002121	\N	\N	"" []	EFO:0002121	"" []	64993	\N	\N	EFO	0	EFO	C3A	C3A
EFO:0002888	EFO:0002121	\N	"" []	EFO:0002121	"" []	205722	\N	\N	EFO	1	EFO	Homo sapiens cell line	C3A
EFO:0005216	EFO:0002121	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0002121	"" []	205723	\N	\N	EFO	1	EFO	hepatoma cell line	C3A
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002121	"" []	558823	\N	\N	EFO	2	EFO	cell line	C3A
EFO:0001639	EFO:0005216	\N	"" []	EFO:0002121	"" []	558824	\N	\N	EFO	2	EFO	cancer cell line	C3A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002121	"" []	2023893	\N	\N	EFO	4	EFO	material entity	C3A
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002121	"" []	1140943	\N	\N	EFO	3	EFO	cell line	C3A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002121	"" []	2999338	\N	\N	EFO	5	EFO	experimental factor	C3A
EFO:0002122	\N	\N	"" []	EFO:0002122	"" []	64994	\N	\N	EFO	0	EFO	C4I	C4I
BTO:0001967	\N	\N	"" []	EFO:0002122	"" []	194519	\N	\N	EFO	0	EFO	cervical cancer cell line	C4I
EFO:0002888	EFO:0002122	\N	"" []	EFO:0002122	"" []	205724	\N	\N	EFO	1	EFO	Homo sapiens cell line	C4I
EFO:0005218	EFO:0002122	\N	"A cell line which is used as a model for cervical carcinoma." []	EFO:0002122	"" []	205725	\N	\N	EFO	1	EFO	cervical carcinoma cell line	C4I
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002122	"" []	558825	\N	\N	EFO	2	EFO	cell line	C4I
EFO:0001639	EFO:0005218	\N	"" []	EFO:0002122	"" []	558826	\N	\N	EFO	2	EFO	cancer cell line	C4I
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002122	"" []	2023895	\N	\N	EFO	4	EFO	material entity	C4I
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002122	"" []	1140945	\N	\N	EFO	3	EFO	cell line	C4I
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002122	"" []	2999339	\N	\N	EFO	5	EFO	experimental factor	C4I
EFO:0002123	\N	\N	"" []	EFO:0002123	"" []	64995	\N	\N	EFO	0	EFO	C4II	C4II
BTO:0001967	\N	\N	"" []	EFO:0002123	"" []	194520	\N	\N	EFO	0	EFO	cervical cancer cell line	C4II
EFO:0002888	EFO:0002123	\N	"" []	EFO:0002123	"" []	205726	\N	\N	EFO	1	EFO	Homo sapiens cell line	C4II
EFO:0005218	EFO:0002123	\N	"A cell line which is used as a model for cervical carcinoma." []	EFO:0002123	"" []	205727	\N	\N	EFO	1	EFO	cervical carcinoma cell line	C4II
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002123	"" []	558827	\N	\N	EFO	2	EFO	cell line	C4II
EFO:0001639	EFO:0005218	\N	"" []	EFO:0002123	"" []	558828	\N	\N	EFO	2	EFO	cancer cell line	C4II
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002123	"" []	2023897	\N	\N	EFO	4	EFO	material entity	C4II
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002123	"" []	1140947	\N	\N	EFO	3	EFO	cell line	C4II
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002123	"" []	2999340	\N	\N	EFO	5	EFO	experimental factor	C4II
EFO:0002124	\N	\N	"" []	EFO:0002124	"" []	64996	\N	\N	EFO	0	EFO	CA46	CA46
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002124	"" []	194521	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	CA46
EFO:0002883	EFO:0002124	\N	"Cell lines that are part of the haemopoietic system." []	EFO:0002124	"" []	205728	\N	\N	EFO	1	EFO	haemopoietic system cell line	CA46
EFO:0002888	EFO:0002124	\N	"" []	EFO:0002124	"" []	205729	\N	\N	EFO	1	EFO	Homo sapiens cell line	CA46
EFO:0000322	EFO:0002883	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002124	"" []	558829	\N	\N	EFO	2	EFO	cell line	CA46
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002124	"" []	558830	\N	\N	EFO	2	EFO	cell line	CA46
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002124	"" []	1140948	\N	\N	EFO	3	EFO	material entity	CA46
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002124	"" []	2023898	\N	\N	EFO	4	EFO	experimental factor	CA46
EFO:0002125	\N	\N	"" []	EFO:0002125	"" []	64997	\N	\N	EFO	0	EFO	CAL54	CAL54
EFO:0001639	EFO:0002125	\N	"" []	EFO:0002125	"" []	205730	\N	\N	EFO	1	EFO	cancer cell line	CAL54
EFO:0001643	EFO:0002125	\N	"" []	EFO:0002125	"" []	205731	\N	\N	EFO	1	EFO	kidney derived cell line	CAL54
EFO:0002888	EFO:0002125	\N	"" []	EFO:0002125	"" []	205732	\N	\N	EFO	1	EFO	Homo sapiens cell line	CAL54
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002125	"" []	558831	\N	\N	EFO	2	EFO	cell line	CAL54
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002125	"" []	558832	\N	\N	EFO	2	EFO	cell line	CAL54
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002125	"" []	558833	\N	\N	EFO	2	EFO	cell line	CAL54
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002125	"" []	1140949	\N	\N	EFO	3	EFO	material entity	CAL54
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002125	"" []	2023899	\N	\N	EFO	4	EFO	experimental factor	CAL54
EFO:0002126	\N	\N	"" []	EFO:0002126	"" []	64998	\N	\N	EFO	0	EFO	CAL62	CAL62
EFO:0001639	EFO:0002126	\N	"" []	EFO:0002126	"" []	205733	\N	\N	EFO	1	EFO	cancer cell line	CAL62
EFO:0002888	EFO:0002126	\N	"" []	EFO:0002126	"" []	205734	\N	\N	EFO	1	EFO	Homo sapiens cell line	CAL62
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002126	"" []	558834	\N	\N	EFO	2	EFO	cell line	CAL62
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002126	"" []	558835	\N	\N	EFO	2	EFO	cell line	CAL62
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002126	"" []	1140950	\N	\N	EFO	3	EFO	material entity	CAL62
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002126	"" []	2023900	\N	\N	EFO	4	EFO	experimental factor	CAL62
EFO:0002127	\N	\N	"" []	EFO:0002127	"" []	64999	\N	\N	EFO	0	EFO	CCFSTTG1	CCFSTTG1
EFO:0001639	EFO:0002127	\N	"" []	EFO:0002127	"" []	205735	\N	\N	EFO	1	EFO	cancer cell line	CCFSTTG1
EFO:0002888	EFO:0002127	\N	"" []	EFO:0002127	"" []	205736	\N	\N	EFO	1	EFO	Homo sapiens cell line	CCFSTTG1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002127	"" []	558836	\N	\N	EFO	2	EFO	cell line	CCFSTTG1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002127	"" []	558837	\N	\N	EFO	2	EFO	cell line	CCFSTTG1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002127	"" []	1140951	\N	\N	EFO	3	EFO	material entity	CCFSTTG1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002127	"" []	2023901	\N	\N	EFO	4	EFO	experimental factor	CCFSTTG1
EFO:0002128	\N	\N	"" []	EFO:0002128	"" []	65000	\N	\N	EFO	0	EFO	CCRFCEM	CCRFCEM
EFO:0001639	EFO:0002128	\N	"" []	EFO:0002128	"" []	205737	\N	\N	EFO	1	EFO	cancer cell line	CCRFCEM
EFO:0002883	EFO:0002128	\N	"Cell lines that are part of the haemopoietic system." []	EFO:0002128	"" []	205738	\N	\N	EFO	1	EFO	haemopoietic system cell line	CCRFCEM
EFO:0002888	EFO:0002128	\N	"" []	EFO:0002128	"" []	205739	\N	\N	EFO	1	EFO	Homo sapiens cell line	CCRFCEM
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002128	"" []	558838	\N	\N	EFO	2	EFO	cell line	CCRFCEM
EFO:0000322	EFO:0002883	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002128	"" []	558839	\N	\N	EFO	2	EFO	cell line	CCRFCEM
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002128	"" []	558840	\N	\N	EFO	2	EFO	cell line	CCRFCEM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002128	"" []	1140952	\N	\N	EFO	3	EFO	material entity	CCRFCEM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002128	"" []	2023902	\N	\N	EFO	4	EFO	experimental factor	CCRFCEM
EFO:0002130	\N	\N	"" []	EFO:0002130	"" []	65001	\N	\N	EFO	0	EFO	CESS	CESS
EFO:0002883	EFO:0002130	\N	"Cell lines that are part of the haemopoietic system." []	EFO:0002130	"" []	205740	\N	\N	EFO	1	EFO	haemopoietic system cell line	CESS
EFO:0002888	EFO:0002130	\N	"" []	EFO:0002130	"" []	205741	\N	\N	EFO	1	EFO	Homo sapiens cell line	CESS
EFO:0002937	EFO:0002130	\N	"" []	EFO:0002130	"" []	205742	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	CESS
EFO:0000322	EFO:0002883	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002130	"" []	558841	\N	\N	EFO	2	EFO	cell line	CESS
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002130	"" []	558842	\N	\N	EFO	2	EFO	cell line	CESS
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002130	"" []	558843	\N	\N	EFO	2	EFO	cancer cell line	CESS
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002130	"" []	2023904	\N	\N	EFO	4	EFO	material entity	CESS
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002130	"" []	1140954	\N	\N	EFO	3	EFO	cell line	CESS
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002130	"" []	2999341	\N	\N	EFO	5	EFO	experimental factor	CESS
EFO:0002131	\N	\N	"" []	EFO:0002131	"" []	65002	\N	\N	EFO	0	EFO	CGTHW1	CGTHW1
EFO:0001639	EFO:0002131	\N	"" []	EFO:0002131	"" []	205743	\N	\N	EFO	1	EFO	cancer cell line	CGTHW1
EFO:0002888	EFO:0002131	\N	"" []	EFO:0002131	"" []	205744	\N	\N	EFO	1	EFO	Homo sapiens cell line	CGTHW1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002131	"" []	558844	\N	\N	EFO	2	EFO	cell line	CGTHW1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002131	"" []	558845	\N	\N	EFO	2	EFO	cell line	CGTHW1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002131	"" []	1140955	\N	\N	EFO	3	EFO	material entity	CGTHW1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002131	"" []	2023905	\N	\N	EFO	4	EFO	experimental factor	CGTHW1
EFO:0002132	\N	\N	"" []	EFO:0002132	"" []	65003	\N	\N	EFO	0	EFO	CHL1	CHL1
BTO:0000849	EFO:0002132	\N	"" []	EFO:0002132	"" []	205745	\N	\N	EFO	1	EFO	melanoma cell line	CHL1
EFO:0002888	EFO:0002132	\N	"" []	EFO:0002132	"" []	205746	\N	\N	EFO	1	EFO	Homo sapiens cell line	CHL1
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002132	"" []	558846	\N	\N	EFO	2	EFO	cancer cell line	CHL1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002132	"" []	558847	\N	\N	EFO	2	EFO	cell line	CHL1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002132	"" []	1140956	\N	\N	EFO	3	EFO	cell line	CHL1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002132	"" []	2023906	\N	\N	EFO	4	EFO	material entity	CHL1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002132	"" []	2999342	\N	\N	EFO	5	EFO	experimental factor	CHL1
EFO:0002133	\N	\N	"" []	EFO:0002133	"" []	65004	\N	\N	EFO	0	EFO	CHP212	CHP212
EFO:0002888	EFO:0002133	\N	"" []	EFO:0002133	"" []	205747	\N	\N	EFO	1	EFO	Homo sapiens cell line	CHP212
EFO:0005214	EFO:0002133	\N	"A cell line which is a model for neuroblastoma." []	EFO:0002133	"" []	205748	\N	\N	EFO	1	EFO	neuroblastoma cell line	CHP212
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002133	"" []	558848	\N	\N	EFO	2	EFO	cell line	CHP212
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002133	"" []	558849	\N	\N	EFO	2	EFO	cell line	CHP212
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002133	"" []	1140958	\N	\N	EFO	3	EFO	material entity	CHP212
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002133	"" []	2023908	\N	\N	EFO	4	EFO	experimental factor	CHP212
EFO:0002134	\N	\N	"" []	EFO:0002134	"" []	65005	\N	\N	EFO	0	EFO	CMLT1	CMLT1
EFO:0002883	EFO:0002134	\N	"Cell lines that are part of the haemopoietic system." []	EFO:0002134	"" []	205749	\N	\N	EFO	1	EFO	haemopoietic system cell line	CMLT1
EFO:0002888	EFO:0002134	\N	"" []	EFO:0002134	"" []	205750	\N	\N	EFO	1	EFO	Homo sapiens cell line	CMLT1
EFO:0005294	EFO:0002134	\N	"" []	EFO:0002134	"" []	205751	\N	\N	EFO	1	EFO	chronic myelogenous leukemia cell line	CMLT1
EFO:0000322	EFO:0002883	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002134	"" []	558850	\N	\N	EFO	2	EFO	cell line	CMLT1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002134	"" []	558851	\N	\N	EFO	2	EFO	cell line	CMLT1
EFO:0002937	EFO:0005294	\N	"" []	EFO:0002134	"" []	558852	\N	\N	EFO	2	EFO	lymphoma or leukaemia cell line	CMLT1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002134	"" []	3177433	\N	\N	EFO	5	EFO	material entity	CMLT1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002134	"" []	1140960	\N	\N	EFO	3	EFO	cancer cell line	CMLT1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002134	"" []	4066683	\N	\N	EFO	6	EFO	experimental factor	CMLT1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002134	"" []	2023910	\N	\N	EFO	4	EFO	cell line	CMLT1
EFO:0002135	\N	\N	"" []	EFO:0002135	"" []	65006	\N	\N	EFO	0	EFO	COLO201	COLO201
BTO:0000797	\N	\N	"" []	EFO:0002135	"" []	194522	\N	\N	EFO	0	EFO	colonic cancer cell line	COLO201
EFO:0001639	EFO:0002135	\N	"" []	EFO:0002135	"" []	205752	\N	\N	EFO	1	EFO	cancer cell line	COLO201
EFO:0002888	EFO:0002135	\N	"" []	EFO:0002135	"" []	205753	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO201
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002135	"" []	558853	\N	\N	EFO	2	EFO	cell line	COLO201
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002135	"" []	558854	\N	\N	EFO	2	EFO	cell line	COLO201
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002135	"" []	1140961	\N	\N	EFO	3	EFO	material entity	COLO201
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002135	"" []	2023911	\N	\N	EFO	4	EFO	experimental factor	COLO201
EFO:0002136	\N	\N	"" []	EFO:0002136	"" []	65007	\N	\N	EFO	0	EFO	COLO320DM	COLO320DM
BTO:0000797	\N	\N	"" []	EFO:0002136	"" []	194523	\N	\N	EFO	0	EFO	colonic cancer cell line	COLO320DM
EFO:0001639	EFO:0002136	\N	"" []	EFO:0002136	"" []	205754	\N	\N	EFO	1	EFO	cancer cell line	COLO320DM
EFO:0002888	EFO:0002136	\N	"" []	EFO:0002136	"" []	205755	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO320DM
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002136	"" []	558855	\N	\N	EFO	2	EFO	cell line	COLO320DM
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002136	"" []	558856	\N	\N	EFO	2	EFO	cell line	COLO320DM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002136	"" []	1140962	\N	\N	EFO	3	EFO	material entity	COLO320DM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002136	"" []	2023912	\N	\N	EFO	4	EFO	experimental factor	COLO320DM
EFO:0002137	\N	\N	"" []	EFO:0002137	"" []	65008	\N	\N	EFO	0	EFO	COLO320HSR	COLO320HSR
BTO:0000797	\N	\N	"" []	EFO:0002137	"" []	194524	\N	\N	EFO	0	EFO	colonic cancer cell line	COLO320HSR
EFO:0001639	EFO:0002137	\N	"" []	EFO:0002137	"" []	205756	\N	\N	EFO	1	EFO	cancer cell line	COLO320HSR
EFO:0002888	EFO:0002137	\N	"" []	EFO:0002137	"" []	205757	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO320HSR
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002137	"" []	558857	\N	\N	EFO	2	EFO	cell line	COLO320HSR
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002137	"" []	558858	\N	\N	EFO	2	EFO	cell line	COLO320HSR
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002137	"" []	1140963	\N	\N	EFO	3	EFO	material entity	COLO320HSR
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002137	"" []	2023913	\N	\N	EFO	4	EFO	experimental factor	COLO320HSR
EFO:0002138	\N	\N	"" []	EFO:0002138	"" []	65009	\N	\N	EFO	0	EFO	COLO668	COLO668
EFO:0002888	EFO:0002138	\N	"" []	EFO:0002138	"" []	205758	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO668
EFO:0002934	EFO:0002138	\N	"" []	EFO:0002138	"" []	205759	\N	\N	EFO	1	EFO	lung cancer cell line	COLO668
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002138	"" []	558859	\N	\N	EFO	2	EFO	cell line	COLO668
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002138	"" []	558860	\N	\N	EFO	2	EFO	cancer cell line	COLO668
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002138	"" []	2023915	\N	\N	EFO	4	EFO	material entity	COLO668
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002138	"" []	1140965	\N	\N	EFO	3	EFO	cell line	COLO668
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002138	"" []	2999343	\N	\N	EFO	5	EFO	experimental factor	COLO668
EFO:0002139	\N	\N	"" []	EFO:0002139	"" []	65010	\N	\N	EFO	0	EFO	COLO704	COLO704
EFO:0002394	EFO:0002139	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0002139	"" []	205760	\N	\N	EFO	1	EFO	ovarian cancer cell lines	COLO704
EFO:0002888	EFO:0002139	\N	"" []	EFO:0002139	"" []	205761	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO704
EFO:0001639	EFO:0002394	\N	"" []	EFO:0002139	"" []	558861	\N	\N	EFO	2	EFO	cancer cell line	COLO704
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002139	"" []	558862	\N	\N	EFO	2	EFO	cell line	COLO704
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002139	"" []	1140966	\N	\N	EFO	3	EFO	cell line	COLO704
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002139	"" []	2023916	\N	\N	EFO	4	EFO	material entity	COLO704
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002139	"" []	2999344	\N	\N	EFO	5	EFO	experimental factor	COLO704
EFO:0002140	\N	\N	"" []	EFO:0002140	"" []	65011	\N	\N	EFO	0	EFO	COLO829	COLO829
BTO:0000849	EFO:0002140	\N	"" []	EFO:0002140	"" []	205762	\N	\N	EFO	1	EFO	melanoma cell line	COLO829
EFO:0002009	EFO:0002140	\N	"" []	EFO:0002140	"" []	205763	\N	\N	EFO	1	EFO	fibroblast derived cell line	COLO829
EFO:0002888	EFO:0002140	\N	"" []	EFO:0002140	"" []	205764	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO829
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002140	"" []	558863	\N	\N	EFO	2	EFO	cancer cell line	COLO829
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002140	"" []	558864	\N	\N	EFO	2	EFO	cell line	COLO829
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002140	"" []	558865	\N	\N	EFO	2	EFO	cell line	COLO829
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002140	"" []	1140968	\N	\N	EFO	3	EFO	cell line	COLO829
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002140	"" []	2023918	\N	\N	EFO	4	EFO	material entity	COLO829
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002140	"" []	2999345	\N	\N	EFO	5	EFO	experimental factor	COLO829
EFO:0002141	\N	\N	"" []	EFO:0002141	"" []	65012	\N	\N	EFO	0	EFO	CORL105	CORL105
EFO:0002888	EFO:0002141	\N	"" []	EFO:0002141	"" []	205765	\N	\N	EFO	1	EFO	Homo sapiens cell line	CORL105
EFO:0002934	EFO:0002141	\N	"" []	EFO:0002141	"" []	205766	\N	\N	EFO	1	EFO	lung cancer cell line	CORL105
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002141	"" []	558866	\N	\N	EFO	2	EFO	cell line	CORL105
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002141	"" []	558867	\N	\N	EFO	2	EFO	cancer cell line	CORL105
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002141	"" []	2023921	\N	\N	EFO	4	EFO	material entity	CORL105
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002141	"" []	1140971	\N	\N	EFO	3	EFO	cell line	CORL105
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002141	"" []	2999346	\N	\N	EFO	5	EFO	experimental factor	CORL105
EFO:0002142	\N	\N	"" []	EFO:0002142	"" []	65013	\N	\N	EFO	0	EFO	CORL23	CORL23
EFO:0002888	EFO:0002142	\N	"" []	EFO:0002142	"" []	205767	\N	\N	EFO	1	EFO	Homo sapiens cell line	CORL23
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002142	"" []	558868	\N	\N	EFO	2	EFO	cell line	CORL23
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002142	"" []	1140972	\N	\N	EFO	3	EFO	material entity	CORL23
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002142	"" []	2023922	\N	\N	EFO	4	EFO	experimental factor	CORL23
EFO:0002143	\N	\N	"" []	EFO:0002143	"" []	65014	\N	\N	EFO	0	EFO	CORL279	CORL279
EFO:0002888	EFO:0002143	\N	"" []	EFO:0002143	"" []	205768	\N	\N	EFO	1	EFO	Homo sapiens cell line	CORL279
EFO:0002934	EFO:0002143	\N	"" []	EFO:0002143	"" []	205769	\N	\N	EFO	1	EFO	lung cancer cell line	CORL279
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002143	"" []	558869	\N	\N	EFO	2	EFO	cell line	CORL279
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002143	"" []	558870	\N	\N	EFO	2	EFO	cancer cell line	CORL279
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002143	"" []	2023924	\N	\N	EFO	4	EFO	material entity	CORL279
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002143	"" []	1140974	\N	\N	EFO	3	EFO	cell line	CORL279
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002143	"" []	2999347	\N	\N	EFO	5	EFO	experimental factor	CORL279
EFO:0002144	\N	\N	"" []	EFO:0002144	"" []	65015	\N	\N	EFO	0	EFO	CORL88	CORL88
EFO:0002888	EFO:0002144	\N	"" []	EFO:0002144	"" []	205770	\N	\N	EFO	1	EFO	Homo sapiens cell line	CORL88
EFO:0002934	EFO:0002144	\N	"" []	EFO:0002144	"" []	205771	\N	\N	EFO	1	EFO	lung cancer cell line	CORL88
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002144	"" []	558871	\N	\N	EFO	2	EFO	cell line	CORL88
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002144	"" []	558872	\N	\N	EFO	2	EFO	cancer cell line	CORL88
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002144	"" []	2023926	\N	\N	EFO	4	EFO	material entity	CORL88
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002144	"" []	1140976	\N	\N	EFO	3	EFO	cell line	CORL88
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002144	"" []	2999348	\N	\N	EFO	5	EFO	experimental factor	CORL88
EFO:0002145	\N	\N	"" []	EFO:0002145	"" []	65016	\N	\N	EFO	0	EFO	CROAP2	CROAP2
EFO:0002888	EFO:0002145	\N	"" []	EFO:0002145	"" []	205772	\N	\N	EFO	1	EFO	Homo sapiens cell line	CROAP2
EFO:0002937	EFO:0002145	\N	"" []	EFO:0002145	"" []	205773	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	CROAP2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002145	"" []	558873	\N	\N	EFO	2	EFO	cell line	CROAP2
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002145	"" []	558874	\N	\N	EFO	2	EFO	cancer cell line	CROAP2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002145	"" []	2023928	\N	\N	EFO	4	EFO	material entity	CROAP2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002145	"" []	1140978	\N	\N	EFO	3	EFO	cell line	CROAP2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002145	"" []	2999349	\N	\N	EFO	5	EFO	experimental factor	CROAP2
EFO:0002146	\N	\N	"" []	EFO:0002146	"" []	65017	\N	\N	EFO	0	EFO	CROAP5	CROAP5
EFO:0002888	EFO:0002146	\N	"" []	EFO:0002146	"" []	205774	\N	\N	EFO	1	EFO	Homo sapiens cell line	CROAP5
EFO:0002937	EFO:0002146	\N	"" []	EFO:0002146	"" []	205775	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	CROAP5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002146	"" []	558875	\N	\N	EFO	2	EFO	cell line	CROAP5
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002146	"" []	558876	\N	\N	EFO	2	EFO	cancer cell line	CROAP5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002146	"" []	2023930	\N	\N	EFO	4	EFO	material entity	CROAP5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002146	"" []	1140980	\N	\N	EFO	3	EFO	cell line	CROAP5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002146	"" []	2999350	\N	\N	EFO	5	EFO	experimental factor	CROAP5
EFO:0002147	\N	\N	"" []	EFO:0002147	"" []	65018	\N	\N	EFO	0	EFO	CaHPV10	CaHPV10
EFO:0001639	EFO:0002147	\N	"" []	EFO:0002147	"" []	205776	\N	\N	EFO	1	EFO	cancer cell line	CaHPV10
EFO:0002888	EFO:0002147	\N	"" []	EFO:0002147	"" []	205777	\N	\N	EFO	1	EFO	Homo sapiens cell line	CaHPV10
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002147	"" []	558877	\N	\N	EFO	2	EFO	cell line	CaHPV10
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002147	"" []	558878	\N	\N	EFO	2	EFO	cell line	CaHPV10
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002147	"" []	1140981	\N	\N	EFO	3	EFO	material entity	CaHPV10
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002147	"" []	2023931	\N	\N	EFO	4	EFO	experimental factor	CaHPV10
EFO:0002148	\N	\N	"" []	EFO:0002148	"" []	65019	\N	\N	EFO	0	EFO	CaOv3	CaOv3
EFO:0002394	EFO:0002148	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0002148	"" []	205778	\N	\N	EFO	1	EFO	ovarian cancer cell lines	CaOv3
EFO:0002888	EFO:0002148	\N	"" []	EFO:0002148	"" []	205779	\N	\N	EFO	1	EFO	Homo sapiens cell line	CaOv3
EFO:0001639	EFO:0002394	\N	"" []	EFO:0002148	"" []	558879	\N	\N	EFO	2	EFO	cancer cell line	CaOv3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002148	"" []	558880	\N	\N	EFO	2	EFO	cell line	CaOv3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002148	"" []	1140982	\N	\N	EFO	3	EFO	cell line	CaOv3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002148	"" []	2023932	\N	\N	EFO	4	EFO	material entity	CaOv3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002148	"" []	2999351	\N	\N	EFO	5	EFO	experimental factor	CaOv3
EFO:0002149	\N	\N	"" []	EFO:0002149	"" []	65020	\N	\N	EFO	0	EFO	Caki1	Caki1
EFO:0001639	EFO:0002149	\N	"" []	EFO:0002149	"" []	205780	\N	\N	EFO	1	EFO	cancer cell line	Caki1
EFO:0001641	EFO:0002149	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002149	"" []	205781	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Caki1
EFO:0002888	EFO:0002149	\N	"" []	EFO:0002149	"" []	205782	\N	\N	EFO	1	EFO	Homo sapiens cell line	Caki1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002149	"" []	558881	\N	\N	EFO	2	EFO	cell line	Caki1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002149	"" []	558882	\N	\N	EFO	2	EFO	cell line	Caki1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002149	"" []	558883	\N	\N	EFO	2	EFO	cell line	Caki1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002149	"" []	1140984	\N	\N	EFO	3	EFO	material entity	Caki1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002149	"" []	2023934	\N	\N	EFO	4	EFO	experimental factor	Caki1
EFO:0002150	\N	\N	"" []	EFO:0002150	"" []	65021	\N	\N	EFO	0	EFO	Caki2	Caki2
EFO:0001639	EFO:0002150	\N	"" []	EFO:0002150	"" []	205783	\N	\N	EFO	1	EFO	cancer cell line	Caki2
EFO:0001641	EFO:0002150	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002150	"" []	205784	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Caki2
EFO:0002888	EFO:0002150	\N	"" []	EFO:0002150	"" []	205785	\N	\N	EFO	1	EFO	Homo sapiens cell line	Caki2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002150	"" []	558884	\N	\N	EFO	2	EFO	cell line	Caki2
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002150	"" []	558885	\N	\N	EFO	2	EFO	cell line	Caki2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002150	"" []	558886	\N	\N	EFO	2	EFO	cell line	Caki2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002150	"" []	1140985	\N	\N	EFO	3	EFO	material entity	Caki2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002150	"" []	2023935	\N	\N	EFO	4	EFO	experimental factor	Caki2
EFO:0002151	\N	\N	"" []	EFO:0002151	"" []	65022	\N	\N	EFO	0	EFO	Calu1	Calu1
EFO:0001641	EFO:0002151	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002151	"" []	205786	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Calu1
EFO:0002888	EFO:0002151	\N	"" []	EFO:0002151	"" []	205787	\N	\N	EFO	1	EFO	Homo sapiens cell line	Calu1
EFO:0002934	EFO:0002151	\N	"" []	EFO:0002151	"" []	205788	\N	\N	EFO	1	EFO	lung cancer cell line	Calu1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002151	"" []	558887	\N	\N	EFO	2	EFO	cell line	Calu1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002151	"" []	558888	\N	\N	EFO	2	EFO	cell line	Calu1
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002151	"" []	558889	\N	\N	EFO	2	EFO	cancer cell line	Calu1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002151	"" []	2023937	\N	\N	EFO	4	EFO	material entity	Calu1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002151	"" []	1140987	\N	\N	EFO	3	EFO	cell line	Calu1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002151	"" []	2999352	\N	\N	EFO	5	EFO	experimental factor	Calu1
EFO:0002152	\N	\N	"" []	EFO:0002152	"" []	65023	\N	\N	EFO	0	EFO	Calu6	Calu6
EFO:0001639	EFO:0002152	\N	"" []	EFO:0002152	"" []	205789	\N	\N	EFO	1	EFO	cancer cell line	Calu6
EFO:0002888	EFO:0002152	\N	"" []	EFO:0002152	"" []	205790	\N	\N	EFO	1	EFO	Homo sapiens cell line	Calu6
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002152	"" []	558890	\N	\N	EFO	2	EFO	cell line	Calu6
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002152	"" []	558891	\N	\N	EFO	2	EFO	cell line	Calu6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002152	"" []	1140988	\N	\N	EFO	3	EFO	material entity	Calu6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002152	"" []	2023938	\N	\N	EFO	4	EFO	experimental factor	Calu6
EFO:0002153	\N	\N	"" []	EFO:0002153	"" []	65024	\N	\N	EFO	0	EFO	Capan1	Capan1
EFO:0001639	EFO:0002153	\N	"" []	EFO:0002153	"" []	205791	\N	\N	EFO	1	EFO	cancer cell line	Capan1
EFO:0002888	EFO:0002153	\N	"" []	EFO:0002153	"" []	205792	\N	\N	EFO	1	EFO	Homo sapiens cell line	Capan1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002153	"" []	558892	\N	\N	EFO	2	EFO	cell line	Capan1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002153	"" []	558893	\N	\N	EFO	2	EFO	cell line	Capan1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002153	"" []	1140989	\N	\N	EFO	3	EFO	material entity	Capan1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002153	"" []	2023939	\N	\N	EFO	4	EFO	experimental factor	Capan1
EFO:0002154	\N	\N	"" []	EFO:0002154	"" []	65025	\N	\N	EFO	0	EFO	Capan2	Capan2
EFO:0001639	EFO:0002154	\N	"" []	EFO:0002154	"" []	205793	\N	\N	EFO	1	EFO	cancer cell line	Capan2
EFO:0002888	EFO:0002154	\N	"" []	EFO:0002154	"" []	205794	\N	\N	EFO	1	EFO	Homo sapiens cell line	Capan2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002154	"" []	558894	\N	\N	EFO	2	EFO	cell line	Capan2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002154	"" []	558895	\N	\N	EFO	2	EFO	cell line	Capan2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002154	"" []	1140990	\N	\N	EFO	3	EFO	material entity	Capan2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002154	"" []	2023940	\N	\N	EFO	4	EFO	experimental factor	Capan2
EFO:0002155	\N	\N	"" []	EFO:0002155	"" []	65026	\N	\N	EFO	0	EFO	ChaGoK1	ChaGoK1
EFO:0001639	EFO:0002155	\N	"" []	EFO:0002155	"" []	205795	\N	\N	EFO	1	EFO	cancer cell line	ChaGoK1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002155	"" []	558896	\N	\N	EFO	2	EFO	cell line	ChaGoK1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002155	"" []	1140991	\N	\N	EFO	3	EFO	material entity	ChaGoK1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002155	"" []	2023941	\N	\N	EFO	4	EFO	experimental factor	ChaGoK1
EFO:0002156	\N	\N	"" []	EFO:0002156	"" []	65027	\N	\N	EFO	0	EFO	D283Med	D283Med
EFO:0001639	EFO:0002156	\N	"" []	EFO:0002156	"" []	205796	\N	\N	EFO	1	EFO	cancer cell line	D283Med
EFO:0002888	EFO:0002156	\N	"" []	EFO:0002156	"" []	205797	\N	\N	EFO	1	EFO	Homo sapiens cell line	D283Med
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002156	"" []	558897	\N	\N	EFO	2	EFO	cell line	D283Med
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002156	"" []	558898	\N	\N	EFO	2	EFO	cell line	D283Med
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002156	"" []	1140992	\N	\N	EFO	3	EFO	material entity	D283Med
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002156	"" []	2023942	\N	\N	EFO	4	EFO	experimental factor	D283Med
EFO:0002157	\N	\N	"" []	EFO:0002157	"" []	65028	\N	\N	EFO	0	EFO	D341Med	D341Med
EFO:0001639	EFO:0002157	\N	"" []	EFO:0002157	"" []	205798	\N	\N	EFO	1	EFO	cancer cell line	D341Med
EFO:0002888	EFO:0002157	\N	"" []	EFO:0002157	"" []	205799	\N	\N	EFO	1	EFO	Homo sapiens cell line	D341Med
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002157	"" []	558899	\N	\N	EFO	2	EFO	cell line	D341Med
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002157	"" []	558900	\N	\N	EFO	2	EFO	cell line	D341Med
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002157	"" []	1140993	\N	\N	EFO	3	EFO	material entity	D341Med
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002157	"" []	2023943	\N	\N	EFO	4	EFO	experimental factor	D341Med
EFO:0002158	\N	\N	"" []	EFO:0002158	"" []	65029	\N	\N	EFO	0	EFO	DB	DB
EFO:0001639	EFO:0002158	\N	"" []	EFO:0002158	"" []	205800	\N	\N	EFO	1	EFO	cancer cell line	DB
EFO:0002888	EFO:0002158	\N	"" []	EFO:0002158	"" []	205801	\N	\N	EFO	1	EFO	Homo sapiens cell line	DB
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002158	"" []	558901	\N	\N	EFO	2	EFO	cell line	DB
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002158	"" []	558902	\N	\N	EFO	2	EFO	cell line	DB
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002158	"" []	1140994	\N	\N	EFO	3	EFO	material entity	DB
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002158	"" []	2023944	\N	\N	EFO	4	EFO	experimental factor	DB
EFO:0002159	\N	\N	"" []	EFO:0002159	"" []	65030	\N	\N	EFO	0	EFO	DBTRG05MG	DBTRG05MG
EFO:0001639	EFO:0002159	\N	"" []	EFO:0002159	"" []	205802	\N	\N	EFO	1	EFO	cancer cell line	DBTRG05MG
EFO:0002888	EFO:0002159	\N	"" []	EFO:0002159	"" []	205803	\N	\N	EFO	1	EFO	Homo sapiens cell line	DBTRG05MG
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002159	"" []	558903	\N	\N	EFO	2	EFO	cell line	DBTRG05MG
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002159	"" []	558904	\N	\N	EFO	2	EFO	cell line	DBTRG05MG
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002159	"" []	1140995	\N	\N	EFO	3	EFO	material entity	DBTRG05MG
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002159	"" []	2023945	\N	\N	EFO	4	EFO	experimental factor	DBTRG05MG
EFO:0002160	\N	\N	"" []	EFO:0002160	"" []	65031	\N	\N	EFO	0	EFO	DG75	DG75
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002160	"" []	194525	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	DG75
EFO:0002161	\N	\N	"" []	EFO:0002161	"" []	65032	\N	\N	EFO	0	EFO	DKMG	DKMG
EFO:0001639	EFO:0002161	\N	"" []	EFO:0002161	"" []	205804	\N	\N	EFO	1	EFO	cancer cell line	DKMG
EFO:0002888	EFO:0002161	\N	"" []	EFO:0002161	"" []	205805	\N	\N	EFO	1	EFO	Homo sapiens cell line	DKMG
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002161	"" []	558905	\N	\N	EFO	2	EFO	cell line	DKMG
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002161	"" []	558906	\N	\N	EFO	2	EFO	cell line	DKMG
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002161	"" []	1140996	\N	\N	EFO	3	EFO	material entity	DKMG
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002161	"" []	2023946	\N	\N	EFO	4	EFO	experimental factor	DKMG
EFO:0002162	\N	\N	"" []	EFO:0002162	"" []	65033	\N	\N	EFO	0	EFO	DMS114	DMS114
EFO:0002888	EFO:0002162	\N	"" []	EFO:0002162	"" []	205806	\N	\N	EFO	1	EFO	Homo sapiens cell line	DMS114
EFO:0002934	EFO:0002162	\N	"" []	EFO:0002162	"" []	205807	\N	\N	EFO	1	EFO	lung cancer cell line	DMS114
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002162	"" []	558907	\N	\N	EFO	2	EFO	cell line	DMS114
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002162	"" []	558908	\N	\N	EFO	2	EFO	cancer cell line	DMS114
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002162	"" []	2023948	\N	\N	EFO	4	EFO	material entity	DMS114
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002162	"" []	1140998	\N	\N	EFO	3	EFO	cell line	DMS114
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002162	"" []	2999353	\N	\N	EFO	5	EFO	experimental factor	DMS114
EFO:0002163	\N	\N	"" []	EFO:0002163	"" []	65034	\N	\N	EFO	0	EFO	DMS153	DMS153
EFO:0002888	EFO:0002163	\N	"" []	EFO:0002163	"" []	205808	\N	\N	EFO	1	EFO	Homo sapiens cell line	DMS153
EFO:0002934	EFO:0002163	\N	"" []	EFO:0002163	"" []	205809	\N	\N	EFO	1	EFO	lung cancer cell line	DMS153
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002163	"" []	558909	\N	\N	EFO	2	EFO	cell line	DMS153
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002163	"" []	558910	\N	\N	EFO	2	EFO	cancer cell line	DMS153
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002163	"" []	2023950	\N	\N	EFO	4	EFO	material entity	DMS153
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002163	"" []	1141000	\N	\N	EFO	3	EFO	cell line	DMS153
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002163	"" []	2999354	\N	\N	EFO	5	EFO	experimental factor	DMS153
EFO:0002164	\N	\N	"" []	EFO:0002164	"" []	65035	\N	\N	EFO	0	EFO	DMS273	DMS273
EFO:0002888	EFO:0002164	\N	"" []	EFO:0002164	"" []	205810	\N	\N	EFO	1	EFO	Homo sapiens cell line	DMS273
EFO:0002934	EFO:0002164	\N	"" []	EFO:0002164	"" []	205811	\N	\N	EFO	1	EFO	lung cancer cell line	DMS273
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002164	"" []	558911	\N	\N	EFO	2	EFO	cell line	DMS273
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002164	"" []	558912	\N	\N	EFO	2	EFO	cancer cell line	DMS273
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002164	"" []	2023952	\N	\N	EFO	4	EFO	material entity	DMS273
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002164	"" []	1141002	\N	\N	EFO	3	EFO	cell line	DMS273
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002164	"" []	2999355	\N	\N	EFO	5	EFO	experimental factor	DMS273
EFO:0002165	\N	\N	"" []	EFO:0002165	"" []	65036	\N	\N	EFO	0	EFO	DMS53	DMS53
EFO:0002888	EFO:0002165	\N	"" []	EFO:0002165	"" []	205812	\N	\N	EFO	1	EFO	Homo sapiens cell line	DMS53
EFO:0002934	EFO:0002165	\N	"" []	EFO:0002165	"" []	205813	\N	\N	EFO	1	EFO	lung cancer cell line	DMS53
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002165	"" []	558913	\N	\N	EFO	2	EFO	cell line	DMS53
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002165	"" []	558914	\N	\N	EFO	2	EFO	cancer cell line	DMS53
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002165	"" []	2023954	\N	\N	EFO	4	EFO	material entity	DMS53
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002165	"" []	1141004	\N	\N	EFO	3	EFO	cell line	DMS53
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002165	"" []	2999356	\N	\N	EFO	5	EFO	experimental factor	DMS53
EFO:0002166	\N	\N	"" []	EFO:0002166	"" []	65037	\N	\N	EFO	0	EFO	DMS79	DMS79
EFO:0002888	EFO:0002166	\N	"" []	EFO:0002166	"" []	205814	\N	\N	EFO	1	EFO	Homo sapiens cell line	DMS79
EFO:0002934	EFO:0002166	\N	"" []	EFO:0002166	"" []	205815	\N	\N	EFO	1	EFO	lung cancer cell line	DMS79
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002166	"" []	558915	\N	\N	EFO	2	EFO	cell line	DMS79
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002166	"" []	558916	\N	\N	EFO	2	EFO	cancer cell line	DMS79
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002166	"" []	2023956	\N	\N	EFO	4	EFO	material entity	DMS79
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002166	"" []	1141006	\N	\N	EFO	3	EFO	cell line	DMS79
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002166	"" []	2999357	\N	\N	EFO	5	EFO	experimental factor	DMS79
EFO:0002167	\N	\N	"" []	EFO:0002167	"" []	65038	\N	\N	EFO	0	EFO	DOHH2	DOHH2
EFO:0001640	EFO:0002167	\N	"" []	EFO:0002167	"" []	205816	\N	\N	EFO	1	EFO	B cell derived cell line	DOHH2
EFO:0002888	EFO:0002167	\N	"" []	EFO:0002167	"" []	205817	\N	\N	EFO	1	EFO	Homo sapiens cell line	DOHH2
EFO:0002937	EFO:0002167	\N	"" []	EFO:0002167	"" []	205818	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	DOHH2
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002167	"" []	558917	\N	\N	EFO	2	EFO	cell line	DOHH2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002167	"" []	558918	\N	\N	EFO	2	EFO	cell line	DOHH2
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002167	"" []	558919	\N	\N	EFO	2	EFO	cancer cell line	DOHH2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002167	"" []	2023958	\N	\N	EFO	4	EFO	material entity	DOHH2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002167	"" []	1141008	\N	\N	EFO	3	EFO	cell line	DOHH2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002167	"" []	2999358	\N	\N	EFO	5	EFO	experimental factor	DOHH2
EFO:0002168	\N	\N	"" []	EFO:0002168	"" []	65039	\N	\N	EFO	0	EFO	DU4475	DU4475
EFO:0002885	EFO:0002168	\N	"" []	EFO:0002168	"" []	205819	\N	\N	EFO	1	EFO	breast cancer cell line	DU4475
EFO:0002888	EFO:0002168	\N	"" []	EFO:0002168	"" []	205820	\N	\N	EFO	1	EFO	Homo sapiens cell line	DU4475
EFO:0001639	EFO:0002885	\N	"" []	EFO:0002168	"" []	558920	\N	\N	EFO	2	EFO	cancer cell line	DU4475
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002168	"" []	558921	\N	\N	EFO	2	EFO	cell line	DU4475
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002168	"" []	1141009	\N	\N	EFO	3	EFO	cell line	DU4475
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002168	"" []	2023959	\N	\N	EFO	4	EFO	material entity	DU4475
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002168	"" []	2999359	\N	\N	EFO	5	EFO	experimental factor	DU4475
EFO:0002169	\N	\N	"A Daudi Burkitt's lymphoma cell line is a cell line.\\nA Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymphoma." []	EFO:0002169	"A Daudi Burkitt's lymphoma cell line is a cell line.\\nA Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymphoma." []	65040	\N	\N	EFO	0	EFO	Daudi	Daudi
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002169	"A Daudi Burkitt's lymphoma cell line is a cell line.\\nA Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymphoma." []	194526	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	Daudi
EFO:0002170	\N	\N	"" []	EFO:0002170	"" []	65041	\N	\N	EFO	0	EFO	Detroit562	Detroit562
EFO:0002888	EFO:0002170	\N	"" []	EFO:0002170	"" []	205821	\N	\N	EFO	1	EFO	Homo sapiens cell line	Detroit562
EFO:0002937	EFO:0002170	\N	"" []	EFO:0002170	"" []	205822	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	Detroit562
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002170	"" []	558922	\N	\N	EFO	2	EFO	cell line	Detroit562
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002170	"" []	558923	\N	\N	EFO	2	EFO	cancer cell line	Detroit562
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002170	"" []	2023962	\N	\N	EFO	4	EFO	material entity	Detroit562
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002170	"" []	1141012	\N	\N	EFO	3	EFO	cell line	Detroit562
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002170	"" []	2999360	\N	\N	EFO	5	EFO	experimental factor	Detroit562
EFO:0002171	\N	\N	"" []	EFO:0002171	"" []	65042	\N	\N	EFO	0	EFO	DoTc2	DoTc2
BTO:0001967	\N	\N	"" []	EFO:0002171	"" []	194527	\N	\N	EFO	0	EFO	cervical cancer cell line	DoTc2
EFO:0002888	EFO:0002171	\N	"" []	EFO:0002171	"" []	205823	\N	\N	EFO	1	EFO	Homo sapiens cell line	DoTc2
EFO:0005218	EFO:0002171	\N	"A cell line which is used as a model for cervical carcinoma." []	EFO:0002171	"" []	205824	\N	\N	EFO	1	EFO	cervical carcinoma cell line	DoTc2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002171	"" []	558924	\N	\N	EFO	2	EFO	cell line	DoTc2
EFO:0001639	EFO:0005218	\N	"" []	EFO:0002171	"" []	558925	\N	\N	EFO	2	EFO	cancer cell line	DoTc2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002171	"" []	2023964	\N	\N	EFO	4	EFO	material entity	DoTc2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002171	"" []	1141014	\N	\N	EFO	3	EFO	cell line	DoTc2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002171	"" []	2999361	\N	\N	EFO	5	EFO	experimental factor	DoTc2
EFO:0002172	\N	\N	"" []	EFO:0002172	"" []	65043	\N	\N	EFO	0	EFO	EB1	EB1
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002172	"" []	194528	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	EB1
EFO:0002173	\N	\N	"" []	EFO:0002173	"" []	65044	\N	\N	EFO	0	EFO	EB2	EB2
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002173	"" []	194529	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	EB2
EFO:0002174	\N	\N	"" []	EFO:0002174	"" []	65045	\N	\N	EFO	0	EFO	EB3	EB3
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002174	"" []	194530	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	EB3
EFO:0002175	\N	\N	"" []	EFO:0002175	"" []	65046	\N	\N	EFO	0	EFO	EFM19	EFM19
EFO:0002885	EFO:0002175	\N	"" []	EFO:0002175	"" []	205825	\N	\N	EFO	1	EFO	breast cancer cell line	EFM19
EFO:0002888	EFO:0002175	\N	"" []	EFO:0002175	"" []	205826	\N	\N	EFO	1	EFO	Homo sapiens cell line	EFM19
EFO:0001639	EFO:0002885	\N	"" []	EFO:0002175	"" []	558926	\N	\N	EFO	2	EFO	cancer cell line	EFM19
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002175	"" []	558927	\N	\N	EFO	2	EFO	cell line	EFM19
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002175	"" []	1141015	\N	\N	EFO	3	EFO	cell line	EFM19
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002175	"" []	2023965	\N	\N	EFO	4	EFO	material entity	EFM19
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002175	"" []	2999362	\N	\N	EFO	5	EFO	experimental factor	EFM19
EFO:0002176	\N	\N	"" []	EFO:0002176	"" []	65047	\N	\N	EFO	0	EFO	EM2	EM2
EFO:0002888	EFO:0002176	\N	"" []	EFO:0002176	"" []	205827	\N	\N	EFO	1	EFO	Homo sapiens cell line	EM2
EFO:0005294	EFO:0002176	\N	"" []	EFO:0002176	"" []	205828	\N	\N	EFO	1	EFO	chronic myelogenous leukemia cell line	EM2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002176	"" []	558928	\N	\N	EFO	2	EFO	cell line	EM2
EFO:0002937	EFO:0005294	\N	"" []	EFO:0002176	"" []	558929	\N	\N	EFO	2	EFO	lymphoma or leukaemia cell line	EM2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002176	"" []	3177434	\N	\N	EFO	5	EFO	material entity	EM2
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002176	"" []	1141018	\N	\N	EFO	3	EFO	cancer cell line	EM2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002176	"" []	4066684	\N	\N	EFO	6	EFO	experimental factor	EM2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002176	"" []	2023968	\N	\N	EFO	4	EFO	cell line	EM2
EFO:0002177	\N	\N	"" []	EFO:0002177	"" []	65048	\N	\N	EFO	0	EFO	ES2	ES2
EFO:0002394	EFO:0002177	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0002177	"" []	205829	\N	\N	EFO	1	EFO	ovarian cancer cell lines	ES2
EFO:0002888	EFO:0002177	\N	"" []	EFO:0002177	"" []	205830	\N	\N	EFO	1	EFO	Homo sapiens cell line	ES2
EFO:0001639	EFO:0002394	\N	"" []	EFO:0002177	"" []	558930	\N	\N	EFO	2	EFO	cancer cell line	ES2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002177	"" []	558931	\N	\N	EFO	2	EFO	cell line	ES2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002177	"" []	1141019	\N	\N	EFO	3	EFO	cell line	ES2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002177	"" []	2023969	\N	\N	EFO	4	EFO	material entity	ES2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002177	"" []	2999363	\N	\N	EFO	5	EFO	experimental factor	ES2
EFO:0002178	\N	\N	"" []	EFO:0002178	"" []	65049	\N	\N	EFO	0	EFO	FaDu	FaDu
EFO:0001639	EFO:0002178	\N	"" []	EFO:0002178	"" []	205831	\N	\N	EFO	1	EFO	cancer cell line	FaDu
EFO:0002888	EFO:0002178	\N	"" []	EFO:0002178	"" []	205832	\N	\N	EFO	1	EFO	Homo sapiens cell line	FaDu
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002178	"" []	558932	\N	\N	EFO	2	EFO	cell line	FaDu
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002178	"" []	558933	\N	\N	EFO	2	EFO	cell line	FaDu
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002178	"" []	1141021	\N	\N	EFO	3	EFO	material entity	FaDu
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002178	"" []	2023971	\N	\N	EFO	4	EFO	experimental factor	FaDu
EFO:0002179	\N	\N	"A human cell line derived from a pediatric patient initially classified as Wilm's tumor, reclassified as deriving from a rhabdoid tumor of the kidney" []	EFO:0002179	"A human cell line derived from a pediatric patient initially classified as Wilm's tumor, reclassified as deriving from a rhabdoid tumor of the kidney" []	65050	\N	\N	EFO	0	EFO	G401	G401
EFO:0001643	EFO:0002179	\N	"" []	EFO:0002179	"A human cell line derived from a pediatric patient initially classified as Wilm's tumor, reclassified as deriving from a rhabdoid tumor of the kidney" []	205833	\N	\N	EFO	1	EFO	kidney derived cell line	G401
EFO:0002888	EFO:0002179	\N	"" []	EFO:0002179	"A human cell line derived from a pediatric patient initially classified as Wilm's tumor, reclassified as deriving from a rhabdoid tumor of the kidney" []	205834	\N	\N	EFO	1	EFO	Homo sapiens cell line	G401
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002179	"A human cell line derived from a pediatric patient initially classified as Wilm's tumor, reclassified as deriving from a rhabdoid tumor of the kidney" []	558934	\N	\N	EFO	2	EFO	cell line	G401
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002179	"A human cell line derived from a pediatric patient initially classified as Wilm's tumor, reclassified as deriving from a rhabdoid tumor of the kidney" []	558935	\N	\N	EFO	2	EFO	cell line	G401
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002179	"A human cell line derived from a pediatric patient initially classified as Wilm's tumor, reclassified as deriving from a rhabdoid tumor of the kidney" []	1141022	\N	\N	EFO	3	EFO	material entity	G401
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002179	"A human cell line derived from a pediatric patient initially classified as Wilm's tumor, reclassified as deriving from a rhabdoid tumor of the kidney" []	2023972	\N	\N	EFO	4	EFO	experimental factor	G401
EFO:0002180	\N	\N	"A human cell line derived from some renal leiomyeloblastoma" []	EFO:0002180	"A human cell line derived from some renal leiomyeloblastoma" []	65051	\N	\N	EFO	0	EFO	G402	G402
EFO:0001643	EFO:0002180	\N	"" []	EFO:0002180	"A human cell line derived from some renal leiomyeloblastoma" []	205835	\N	\N	EFO	1	EFO	kidney derived cell line	G402
EFO:0002888	EFO:0002180	\N	"" []	EFO:0002180	"A human cell line derived from some renal leiomyeloblastoma" []	205836	\N	\N	EFO	1	EFO	Homo sapiens cell line	G402
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002180	"A human cell line derived from some renal leiomyeloblastoma" []	558936	\N	\N	EFO	2	EFO	cell line	G402
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002180	"A human cell line derived from some renal leiomyeloblastoma" []	558937	\N	\N	EFO	2	EFO	cell line	G402
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002180	"A human cell line derived from some renal leiomyeloblastoma" []	1141023	\N	\N	EFO	3	EFO	material entity	G402
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002180	"A human cell line derived from some renal leiomyeloblastoma" []	2023973	\N	\N	EFO	4	EFO	experimental factor	G402
EFO:0002181	\N	\N	"" []	EFO:0002181	"" []	65052	\N	\N	EFO	0	EFO	GA10	GA10
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002181	"" []	194531	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	GA10
EFO:0002182	\N	\N	"A Giant Cell Tumor (GCT) cell line derived from a human fibrous histiocytoma  lung metastasis" []	EFO:0002182	"A Giant Cell Tumor (GCT) cell line derived from a human fibrous histiocytoma  lung metastasis" []	65053	\N	\N	EFO	0	EFO	GCT	GCT
EFO:0002888	EFO:0002182	\N	"" []	EFO:0002182	"A Giant Cell Tumor (GCT) cell line derived from a human fibrous histiocytoma  lung metastasis" []	205837	\N	\N	EFO	1	EFO	Homo sapiens cell line	GCT
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002182	"A Giant Cell Tumor (GCT) cell line derived from a human fibrous histiocytoma  lung metastasis" []	558938	\N	\N	EFO	2	EFO	cell line	GCT
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002182	"A Giant Cell Tumor (GCT) cell line derived from a human fibrous histiocytoma  lung metastasis" []	1141024	\N	\N	EFO	3	EFO	material entity	GCT
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002182	"A Giant Cell Tumor (GCT) cell line derived from a human fibrous histiocytoma  lung metastasis" []	2023974	\N	\N	EFO	4	EFO	experimental factor	GCT
EFO:0002183	\N	\N	"A cell line derived from a human patient with Philadelphia chromosome negative myeloproliferative disorder, after transformation to acute myelomonoblastic leukemia.http://www.ncbi.nlm.nih.gov/pubmed/6296552" []	EFO:0002183	"A cell line derived from a human patient with Philadelphia chromosome negative myeloproliferative disorder, after transformation to acute myelomonoblastic leukemia.http://www.ncbi.nlm.nih.gov/pubmed/6296552" []	65054	\N	\N	EFO	0	EFO	GDM1	GDM1
EFO:0002888	EFO:0002183	\N	"" []	EFO:0002183	"A cell line derived from a human patient with Philadelphia chromosome negative myeloproliferative disorder, after transformation to acute myelomonoblastic leukemia.http://www.ncbi.nlm.nih.gov/pubmed/6296552" []	205838	\N	\N	EFO	1	EFO	Homo sapiens cell line	GDM1
EFO:0002937	EFO:0002183	\N	"" []	EFO:0002183	"A cell line derived from a human patient with Philadelphia chromosome negative myeloproliferative disorder, after transformation to acute myelomonoblastic leukemia.http://www.ncbi.nlm.nih.gov/pubmed/6296552" []	205839	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	GDM1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002183	"A cell line derived from a human patient with Philadelphia chromosome negative myeloproliferative disorder, after transformation to acute myelomonoblastic leukemia.http://www.ncbi.nlm.nih.gov/pubmed/6296552" []	558939	\N	\N	EFO	2	EFO	cell line	GDM1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002183	"A cell line derived from a human patient with Philadelphia chromosome negative myeloproliferative disorder, after transformation to acute myelomonoblastic leukemia.http://www.ncbi.nlm.nih.gov/pubmed/6296552" []	558940	\N	\N	EFO	2	EFO	cancer cell line	GDM1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002183	"A cell line derived from a human patient with Philadelphia chromosome negative myeloproliferative disorder, after transformation to acute myelomonoblastic leukemia.http://www.ncbi.nlm.nih.gov/pubmed/6296552" []	2023976	\N	\N	EFO	4	EFO	material entity	GDM1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002183	"A cell line derived from a human patient with Philadelphia chromosome negative myeloproliferative disorder, after transformation to acute myelomonoblastic leukemia.http://www.ncbi.nlm.nih.gov/pubmed/6296552" []	1141026	\N	\N	EFO	3	EFO	cell line	GDM1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002183	"A cell line derived from a human patient with Philadelphia chromosome negative myeloproliferative disorder, after transformation to acute myelomonoblastic leukemia.http://www.ncbi.nlm.nih.gov/pubmed/6296552" []	2999364	\N	\N	EFO	5	EFO	experimental factor	GDM1
EFO:0002184	\N	\N	"" []	EFO:0002184	"" []	65055	\N	\N	EFO	0	EFO	H4	H4
EFO:0001641	EFO:0002184	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002184	"" []	205840	\N	\N	EFO	1	EFO	epithelial cell derived cell line	H4
EFO:0002888	EFO:0002184	\N	"" []	EFO:0002184	"" []	205841	\N	\N	EFO	1	EFO	Homo sapiens cell line	H4
EFO:0003040	EFO:0002184	\N	"" []	EFO:0002184	"" []	205842	\N	\N	EFO	1	EFO	embryonic cell line	H4
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002184	"" []	558941	\N	\N	EFO	2	EFO	cell line	H4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002184	"" []	558942	\N	\N	EFO	2	EFO	cell line	H4
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002184	"" []	558943	\N	\N	EFO	2	EFO	cell line	H4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002184	"" []	1141027	\N	\N	EFO	3	EFO	material entity	H4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002184	"" []	2023977	\N	\N	EFO	4	EFO	experimental factor	H4
EFO:0002185	\N	\N	"" []	EFO:0002185	"" []	65056	\N	\N	EFO	0	EFO	HCC1395	HCC1395
EFO:0001641	EFO:0002185	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002185	"" []	205843	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1395
EFO:0002884	EFO:0002185	\N	"" []	EFO:0002185	"" []	205844	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1395
EFO:0002885	EFO:0002185	\N	"" []	EFO:0002185	"" []	205845	\N	\N	EFO	1	EFO	breast cancer cell line	HCC1395
EFO:0002888	EFO:0002185	\N	"" []	EFO:0002185	"" []	205846	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1395
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002185	"" []	558944	\N	\N	EFO	2	EFO	cell line	HCC1395
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002185	"" []	558945	\N	\N	EFO	2	EFO	cell line	HCC1395
EFO:0001639	EFO:0002885	\N	"" []	EFO:0002185	"" []	558946	\N	\N	EFO	2	EFO	cancer cell line	HCC1395
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002185	"" []	558947	\N	\N	EFO	2	EFO	cell line	HCC1395
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002185	"" []	2023979	\N	\N	EFO	4	EFO	material entity	HCC1395
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002185	"" []	1141029	\N	\N	EFO	3	EFO	cell line	HCC1395
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002185	"" []	2999365	\N	\N	EFO	5	EFO	experimental factor	HCC1395
EFO:0002186	\N	\N	"" []	EFO:0002186	"" []	65057	\N	\N	EFO	0	EFO	HCC1599	HCC1599
EFO:0001641	EFO:0002186	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002186	"" []	205847	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1599
EFO:0002884	EFO:0002186	\N	"" []	EFO:0002186	"" []	205848	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1599
EFO:0002885	EFO:0002186	\N	"" []	EFO:0002186	"" []	205849	\N	\N	EFO	1	EFO	breast cancer cell line	HCC1599
EFO:0002888	EFO:0002186	\N	"" []	EFO:0002186	"" []	205850	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1599
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002186	"" []	558948	\N	\N	EFO	2	EFO	cell line	HCC1599
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002186	"" []	558949	\N	\N	EFO	2	EFO	cell line	HCC1599
EFO:0001639	EFO:0002885	\N	"" []	EFO:0002186	"" []	558950	\N	\N	EFO	2	EFO	cancer cell line	HCC1599
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002186	"" []	558951	\N	\N	EFO	2	EFO	cell line	HCC1599
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002186	"" []	2023981	\N	\N	EFO	4	EFO	material entity	HCC1599
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002186	"" []	1141031	\N	\N	EFO	3	EFO	cell line	HCC1599
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002186	"" []	2999366	\N	\N	EFO	5	EFO	experimental factor	HCC1599
EFO:0002187	\N	\N	"" []	EFO:0002187	"" []	65058	\N	\N	EFO	0	EFO	HCC2218	HCC2218
EFO:0001641	EFO:0002187	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002187	"" []	205851	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC2218
EFO:0002884	EFO:0002187	\N	"" []	EFO:0002187	"" []	205852	\N	\N	EFO	1	EFO	mammary gland cell line	HCC2218
EFO:0002885	EFO:0002187	\N	"" []	EFO:0002187	"" []	205853	\N	\N	EFO	1	EFO	breast cancer cell line	HCC2218
EFO:0002888	EFO:0002187	\N	"" []	EFO:0002187	"" []	205854	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC2218
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002187	"" []	558952	\N	\N	EFO	2	EFO	cell line	HCC2218
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002187	"" []	558953	\N	\N	EFO	2	EFO	cell line	HCC2218
EFO:0001639	EFO:0002885	\N	"" []	EFO:0002187	"" []	558954	\N	\N	EFO	2	EFO	cancer cell line	HCC2218
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002187	"" []	558955	\N	\N	EFO	2	EFO	cell line	HCC2218
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002187	"" []	2023983	\N	\N	EFO	4	EFO	material entity	HCC2218
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002187	"" []	1141033	\N	\N	EFO	3	EFO	cell line	HCC2218
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002187	"" []	2999367	\N	\N	EFO	5	EFO	experimental factor	HCC2218
EFO:0002188	\N	\N	"" []	EFO:0002188	"" []	65059	\N	\N	EFO	0	EFO	HCT15	HCT15
EFO:0002888	EFO:0002188	\N	"" []	EFO:0002188	"" []	205855	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCT15
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002188	"" []	558956	\N	\N	EFO	2	EFO	cell line	HCT15
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002188	"" []	1141034	\N	\N	EFO	3	EFO	material entity	HCT15
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002188	"" []	2023984	\N	\N	EFO	4	EFO	experimental factor	HCT15
EFO:0002189	\N	\N	"" []	EFO:0002189	"" []	65060	\N	\N	EFO	0	EFO	HCT8	HCT8
BTO:0000797	\N	\N	"" []	EFO:0002189	"" []	194532	\N	\N	EFO	0	EFO	colonic cancer cell line	HCT8
EFO:0001639	EFO:0002189	\N	"" []	EFO:0002189	"" []	205856	\N	\N	EFO	1	EFO	cancer cell line	HCT8
EFO:0001641	EFO:0002189	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002189	"" []	205857	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCT8
EFO:0002888	EFO:0002189	\N	"" []	EFO:0002189	"" []	205858	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCT8
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002189	"" []	558957	\N	\N	EFO	2	EFO	cell line	HCT8
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002189	"" []	558958	\N	\N	EFO	2	EFO	cell line	HCT8
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002189	"" []	558959	\N	\N	EFO	2	EFO	cell line	HCT8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002189	"" []	1141035	\N	\N	EFO	3	EFO	material entity	HCT8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002189	"" []	2023985	\N	\N	EFO	4	EFO	experimental factor	HCT8
EFO:0002190	\N	\N	"" []	EFO:0002190	"" []	65061	\N	\N	EFO	0	EFO	HDMYZ	HDMYZ
EFO:0002888	EFO:0002190	\N	"" []	EFO:0002190	"" []	205859	\N	\N	EFO	1	EFO	Homo sapiens cell line	HDMYZ
EFO:0002937	EFO:0002190	\N	"" []	EFO:0002190	"" []	205860	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	HDMYZ
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002190	"" []	558960	\N	\N	EFO	2	EFO	cell line	HDMYZ
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002190	"" []	558961	\N	\N	EFO	2	EFO	cancer cell line	HDMYZ
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002190	"" []	2023987	\N	\N	EFO	4	EFO	material entity	HDMYZ
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002190	"" []	1141037	\N	\N	EFO	3	EFO	cell line	HDMYZ
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002190	"" []	2999368	\N	\N	EFO	5	EFO	experimental factor	HDMYZ
EFO:0002191	\N	\N	"" []	EFO:0002191	"" []	65062	\N	\N	EFO	0	EFO	HEC1A	HEC1A
EFO:0001639	EFO:0002191	\N	"" []	EFO:0002191	"" []	205861	\N	\N	EFO	1	EFO	cancer cell line	HEC1A
EFO:0002888	EFO:0002191	\N	"" []	EFO:0002191	"" []	205862	\N	\N	EFO	1	EFO	Homo sapiens cell line	HEC1A
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002191	"" []	558962	\N	\N	EFO	2	EFO	cell line	HEC1A
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002191	"" []	558963	\N	\N	EFO	2	EFO	cell line	HEC1A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002191	"" []	1141038	\N	\N	EFO	3	EFO	material entity	HEC1A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002191	"" []	2023988	\N	\N	EFO	4	EFO	experimental factor	HEC1A
EFO:0002192	\N	\N	"" []	EFO:0002192	"" []	65063	\N	\N	EFO	0	EFO	HEC1B	HEC1B
EFO:0001639	EFO:0002192	\N	"" []	EFO:0002192	"" []	205863	\N	\N	EFO	1	EFO	cancer cell line	HEC1B
EFO:0002888	EFO:0002192	\N	"" []	EFO:0002192	"" []	205864	\N	\N	EFO	1	EFO	Homo sapiens cell line	HEC1B
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002192	"" []	558964	\N	\N	EFO	2	EFO	cell line	HEC1B
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002192	"" []	558965	\N	\N	EFO	2	EFO	cell line	HEC1B
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002192	"" []	1141039	\N	\N	EFO	3	EFO	material entity	HEC1B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002192	"" []	2023989	\N	\N	EFO	4	EFO	experimental factor	HEC1B
EFO:0002193	\N	\N	"" []	EFO:0002193	"" []	65064	\N	\N	EFO	0	EFO	HEL9217	HEL9217
EFO:0002888	EFO:0002193	\N	"" []	EFO:0002193	"" []	205865	\N	\N	EFO	1	EFO	Homo sapiens cell line	HEL9217
EFO:0002937	EFO:0002193	\N	"" []	EFO:0002193	"" []	205866	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	HEL9217
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002193	"" []	558966	\N	\N	EFO	2	EFO	cell line	HEL9217
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002193	"" []	558967	\N	\N	EFO	2	EFO	cancer cell line	HEL9217
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002193	"" []	2023991	\N	\N	EFO	4	EFO	material entity	HEL9217
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002193	"" []	1141041	\N	\N	EFO	3	EFO	cell line	HEL9217
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002193	"" []	2999369	\N	\N	EFO	5	EFO	experimental factor	HEL9217
EFO:0002194	\N	\N	"" []	EFO:0002194	"" []	65065	\N	\N	EFO	0	EFO	HH	HH
EFO:0002888	EFO:0002194	\N	"" []	EFO:0002194	"" []	205867	\N	\N	EFO	1	EFO	Homo sapiens cell line	HH
EFO:0002937	EFO:0002194	\N	"" []	EFO:0002194	"" []	205868	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	HH
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002194	"" []	558968	\N	\N	EFO	2	EFO	cell line	HH
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002194	"" []	558969	\N	\N	EFO	2	EFO	cancer cell line	HH
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002194	"" []	2023993	\N	\N	EFO	4	EFO	material entity	HH
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002194	"" []	1141043	\N	\N	EFO	3	EFO	cell line	HH
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002194	"" []	2999370	\N	\N	EFO	5	EFO	experimental factor	HH
EFO:0002195	\N	\N	"" []	EFO:0002195	"" []	65066	\N	\N	EFO	0	EFO	HMCB	HMCB
BTO:0000849	EFO:0002195	\N	"" []	EFO:0002195	"" []	205869	\N	\N	EFO	1	EFO	melanoma cell line	HMCB
EFO:0001641	EFO:0002195	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002195	"" []	205870	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HMCB
EFO:0002888	EFO:0002195	\N	"" []	EFO:0002195	"" []	205871	\N	\N	EFO	1	EFO	Homo sapiens cell line	HMCB
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002195	"" []	558970	\N	\N	EFO	2	EFO	cancer cell line	HMCB
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002195	"" []	558971	\N	\N	EFO	2	EFO	cell line	HMCB
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002195	"" []	558972	\N	\N	EFO	2	EFO	cell line	HMCB
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002195	"" []	1141044	\N	\N	EFO	3	EFO	cell line	HMCB
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002195	"" []	2023994	\N	\N	EFO	4	EFO	material entity	HMCB
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002195	"" []	2999371	\N	\N	EFO	5	EFO	experimental factor	HMCB
EFO:0002196	\N	\N	"" []	EFO:0002196	"" []	65067	\N	\N	EFO	0	EFO	HOS	HOS
EFO:0001639	EFO:0002196	\N	"" []	EFO:0002196	"" []	205872	\N	\N	EFO	1	EFO	cancer cell line	HOS
EFO:0002888	EFO:0002196	\N	"" []	EFO:0002196	"" []	205873	\N	\N	EFO	1	EFO	Homo sapiens cell line	HOS
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002196	"" []	558973	\N	\N	EFO	2	EFO	cell line	HOS
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002196	"" []	558974	\N	\N	EFO	2	EFO	cell line	HOS
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002196	"" []	1141046	\N	\N	EFO	3	EFO	material entity	HOS
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002196	"" []	2023996	\N	\N	EFO	4	EFO	experimental factor	HOS
EFO:0002197	\N	\N	"" []	EFO:0002197	"" []	65068	\N	\N	EFO	0	EFO	HPAC	HPAC
EFO:0001639	EFO:0002197	\N	"" []	EFO:0002197	"" []	205874	\N	\N	EFO	1	EFO	cancer cell line	HPAC
EFO:0002888	EFO:0002197	\N	"" []	EFO:0002197	"" []	205875	\N	\N	EFO	1	EFO	Homo sapiens cell line	HPAC
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002197	"" []	558975	\N	\N	EFO	2	EFO	cell line	HPAC
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002197	"" []	558976	\N	\N	EFO	2	EFO	cell line	HPAC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002197	"" []	1141047	\N	\N	EFO	3	EFO	material entity	HPAC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002197	"" []	2023997	\N	\N	EFO	4	EFO	experimental factor	HPAC
EFO:0002198	\N	\N	"" []	EFO:0002198	"" []	65069	\N	\N	EFO	0	EFO	HPAFII	HPAFII
EFO:0001639	EFO:0002198	\N	"" []	EFO:0002198	"" []	205876	\N	\N	EFO	1	EFO	cancer cell line	HPAFII
EFO:0002888	EFO:0002198	\N	"" []	EFO:0002198	"" []	205877	\N	\N	EFO	1	EFO	Homo sapiens cell line	HPAFII
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002198	"" []	558977	\N	\N	EFO	2	EFO	cell line	HPAFII
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002198	"" []	558978	\N	\N	EFO	2	EFO	cell line	HPAFII
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002198	"" []	1141048	\N	\N	EFO	3	EFO	material entity	HPAFII
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002198	"" []	2023998	\N	\N	EFO	4	EFO	experimental factor	HPAFII
EFO:0002199	\N	\N	"" []	EFO:0002199	"" []	65070	\N	\N	EFO	0	EFO	HSSultan	HSSultan
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002199	"" []	194533	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	HSSultan
EFO:0002888	EFO:0002199	\N	"" []	EFO:0002199	"" []	205878	\N	\N	EFO	1	EFO	Homo sapiens cell line	HSSultan
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002199	"" []	558979	\N	\N	EFO	2	EFO	cell line	HSSultan
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002199	"" []	1141049	\N	\N	EFO	3	EFO	material entity	HSSultan
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002199	"" []	2023999	\N	\N	EFO	4	EFO	experimental factor	HSSultan
EFO:0002200	\N	\N	"" []	EFO:0002200	"" []	65071	\N	\N	EFO	0	EFO	HT	HT
EFO:0002888	EFO:0002200	\N	"" []	EFO:0002200	"" []	205879	\N	\N	EFO	1	EFO	Homo sapiens cell line	HT
EFO:0002937	EFO:0002200	\N	"" []	EFO:0002200	"" []	205880	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	HT
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002200	"" []	558980	\N	\N	EFO	2	EFO	cell line	HT
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002200	"" []	558981	\N	\N	EFO	2	EFO	cancer cell line	HT
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002200	"" []	2024001	\N	\N	EFO	4	EFO	material entity	HT
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002200	"" []	1141051	\N	\N	EFO	3	EFO	cell line	HT
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002200	"" []	2999372	\N	\N	EFO	5	EFO	experimental factor	HT
EFO:0002202	\N	\N	"" []	EFO:0002202	"" []	65072	\N	\N	EFO	0	EFO	HT1197	HT1197
EFO:0001639	EFO:0002202	\N	"" []	EFO:0002202	"" []	205881	\N	\N	EFO	1	EFO	cancer cell line	HT1197
EFO:0002888	EFO:0002202	\N	"" []	EFO:0002202	"" []	205882	\N	\N	EFO	1	EFO	Homo sapiens cell line	HT1197
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002202	"" []	558982	\N	\N	EFO	2	EFO	cell line	HT1197
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002202	"" []	558983	\N	\N	EFO	2	EFO	cell line	HT1197
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002202	"" []	1141052	\N	\N	EFO	3	EFO	material entity	HT1197
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002202	"" []	2024002	\N	\N	EFO	4	EFO	experimental factor	HT1197
EFO:0002203	\N	\N	"" []	EFO:0002203	"" []	65073	\N	\N	EFO	0	EFO	HT1376	HT1376
EFO:0001639	EFO:0002203	\N	"" []	EFO:0002203	"" []	205883	\N	\N	EFO	1	EFO	cancer cell line	HT1376
EFO:0002888	EFO:0002203	\N	"" []	EFO:0002203	"" []	205884	\N	\N	EFO	1	EFO	Homo sapiens cell line	HT1376
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002203	"" []	558984	\N	\N	EFO	2	EFO	cell line	HT1376
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002203	"" []	558985	\N	\N	EFO	2	EFO	cell line	HT1376
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002203	"" []	1141053	\N	\N	EFO	3	EFO	material entity	HT1376
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002203	"" []	2024003	\N	\N	EFO	4	EFO	experimental factor	HT1376
EFO:0002204	\N	\N	"" []	EFO:0002204	"" []	65074	\N	\N	EFO	0	EFO	HT3	HT3
EFO:0002888	EFO:0002204	\N	"" []	EFO:0002204	"" []	205885	\N	\N	EFO	1	EFO	Homo sapiens cell line	HT3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002204	"" []	558986	\N	\N	EFO	2	EFO	cell line	HT3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002204	"" []	1141054	\N	\N	EFO	3	EFO	material entity	HT3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002204	"" []	2024004	\N	\N	EFO	4	EFO	experimental factor	HT3
EFO:0002205	\N	\N	"" []	EFO:0002205	"" []	65075	\N	\N	EFO	0	EFO	Hep3B	Hep3B
EFO:0001641	EFO:0002205	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002205	"" []	205886	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Hep3B
EFO:0002888	EFO:0002205	\N	"" []	EFO:0002205	"" []	205887	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hep3B
EFO:0005216	EFO:0002205	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0002205	"" []	205888	\N	\N	EFO	1	EFO	hepatoma cell line	Hep3B
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002205	"" []	558987	\N	\N	EFO	2	EFO	cell line	Hep3B
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002205	"" []	558988	\N	\N	EFO	2	EFO	cell line	Hep3B
EFO:0001639	EFO:0005216	\N	"" []	EFO:0002205	"" []	558989	\N	\N	EFO	2	EFO	cancer cell line	Hep3B
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002205	"" []	2024006	\N	\N	EFO	4	EFO	material entity	Hep3B
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002205	"" []	1141056	\N	\N	EFO	3	EFO	cell line	Hep3B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002205	"" []	2999373	\N	\N	EFO	5	EFO	experimental factor	Hep3B
EFO:0002207	\N	\N	"" []	EFO:0002207	"" []	65076	\N	\N	EFO	0	EFO	HuNS1	HuNS1
EFO:0001639	EFO:0002207	\N	"" []	EFO:0002207	"" []	205889	\N	\N	EFO	1	EFO	cancer cell line	HuNS1
EFO:0002888	EFO:0002207	\N	"" []	EFO:0002207	"" []	205890	\N	\N	EFO	1	EFO	Homo sapiens cell line	HuNS1
EFO:0005292	EFO:0002207	\N	"" []	EFO:0002207	"" []	205891	\N	\N	EFO	1	EFO	lymphoblastoid cell line	HuNS1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002207	"" []	558990	\N	\N	EFO	2	EFO	cell line	HuNS1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002207	"" []	558991	\N	\N	EFO	2	EFO	cell line	HuNS1
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002207	"" []	558992	\N	\N	EFO	2	EFO	cell line	HuNS1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002207	"" []	1141057	\N	\N	EFO	3	EFO	material entity	HuNS1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002207	"" []	2024007	\N	\N	EFO	4	EFO	experimental factor	HuNS1
EFO:0002208	\N	\N	"" []	EFO:0002208	"" []	65077	\N	\N	EFO	0	EFO	HuPT4	HuPT4
EFO:0001639	EFO:0002208	\N	"" []	EFO:0002208	"" []	205892	\N	\N	EFO	1	EFO	cancer cell line	HuPT4
EFO:0002888	EFO:0002208	\N	"" []	EFO:0002208	"" []	205893	\N	\N	EFO	1	EFO	Homo sapiens cell line	HuPT4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002208	"" []	558993	\N	\N	EFO	2	EFO	cell line	HuPT4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002208	"" []	558994	\N	\N	EFO	2	EFO	cell line	HuPT4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002208	"" []	1141058	\N	\N	EFO	3	EFO	material entity	HuPT4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002208	"" []	2024008	\N	\N	EFO	4	EFO	experimental factor	HuPT4
EFO:0002209	\N	\N	"" []	EFO:0002209	"" []	65078	\N	\N	EFO	0	EFO	HuT78	HuT78
EFO:0002888	EFO:0002209	\N	"" []	EFO:0002209	"" []	205894	\N	\N	EFO	1	EFO	Homo sapiens cell line	HuT78
EFO:0002937	EFO:0002209	\N	"" []	EFO:0002209	"" []	205895	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	HuT78
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002209	"" []	558995	\N	\N	EFO	2	EFO	cell line	HuT78
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002209	"" []	558996	\N	\N	EFO	2	EFO	cancer cell line	HuT78
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002209	"" []	2024010	\N	\N	EFO	4	EFO	material entity	HuT78
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002209	"" []	1141060	\N	\N	EFO	3	EFO	cell line	HuT78
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002209	"" []	2999374	\N	\N	EFO	5	EFO	experimental factor	HuT78
EFO:0002210	\N	\N	"" []	EFO:0002210	"" []	65079	\N	\N	EFO	0	EFO	J82	J82
EFO:0001639	EFO:0002210	\N	"" []	EFO:0002210	"" []	205896	\N	\N	EFO	1	EFO	cancer cell line	J82
EFO:0002888	EFO:0002210	\N	"" []	EFO:0002210	"" []	205897	\N	\N	EFO	1	EFO	Homo sapiens cell line	J82
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002210	"" []	558997	\N	\N	EFO	2	EFO	cell line	J82
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002210	"" []	558998	\N	\N	EFO	2	EFO	cell line	J82
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002210	"" []	1141061	\N	\N	EFO	3	EFO	material entity	J82
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002210	"" []	2024011	\N	\N	EFO	4	EFO	experimental factor	J82
EFO:0002211	\N	\N	"" []	EFO:0002211	"" []	65080	\N	\N	EFO	0	EFO	JAR	JAR
EFO:0002888	EFO:0002211	\N	"" []	EFO:0002211	"" []	205898	\N	\N	EFO	1	EFO	Homo sapiens cell line	JAR
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002211	"" []	558999	\N	\N	EFO	2	EFO	cell line	JAR
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002211	"" []	1141062	\N	\N	EFO	3	EFO	material entity	JAR
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002211	"" []	2024012	\N	\N	EFO	4	EFO	experimental factor	JAR
EFO:0002212	\N	\N	"" []	EFO:0002212	"" []	65081	\N	\N	EFO	0	EFO	JM1	JM1
EFO:0001639	EFO:0002212	\N	"" []	EFO:0002212	"" []	205899	\N	\N	EFO	1	EFO	cancer cell line	JM1
EFO:0002888	EFO:0002212	\N	"" []	EFO:0002212	"" []	205900	\N	\N	EFO	1	EFO	Homo sapiens cell line	JM1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002212	"" []	559000	\N	\N	EFO	2	EFO	cell line	JM1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002212	"" []	559001	\N	\N	EFO	2	EFO	cell line	JM1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002212	"" []	1141063	\N	\N	EFO	3	EFO	material entity	JM1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002212	"" []	2024013	\N	\N	EFO	4	EFO	experimental factor	JM1
EFO:0002213	\N	\N	"" []	EFO:0002213	"" []	65082	\N	\N	EFO	0	EFO	JRT3T35	JRT3T35
EFO:0001639	EFO:0002213	\N	"" []	EFO:0002213	"" []	205901	\N	\N	EFO	1	EFO	cancer cell line	JRT3T35
EFO:0002888	EFO:0002213	\N	"" []	EFO:0002213	"" []	205902	\N	\N	EFO	1	EFO	Homo sapiens cell line	JRT3T35
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002213	"" []	559002	\N	\N	EFO	2	EFO	cell line	JRT3T35
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002213	"" []	559003	\N	\N	EFO	2	EFO	cell line	JRT3T35
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002213	"" []	1141064	\N	\N	EFO	3	EFO	material entity	JRT3T35
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002213	"" []	2024014	\N	\N	EFO	4	EFO	experimental factor	JRT3T35
EFO:0002214	\N	\N	"" []	EFO:0002214	"" []	65083	\N	\N	EFO	0	EFO	JVM3	JVM3
EFO:0001639	EFO:0002214	\N	"" []	EFO:0002214	"" []	205903	\N	\N	EFO	1	EFO	cancer cell line	JVM3
EFO:0002888	EFO:0002214	\N	"" []	EFO:0002214	"" []	205904	\N	\N	EFO	1	EFO	Homo sapiens cell line	JVM3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002214	"" []	559004	\N	\N	EFO	2	EFO	cell line	JVM3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002214	"" []	559005	\N	\N	EFO	2	EFO	cell line	JVM3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002214	"" []	1141065	\N	\N	EFO	3	EFO	material entity	JVM3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002214	"" []	2024015	\N	\N	EFO	4	EFO	experimental factor	JVM3
EFO:0002215	\N	\N	"A Jiyoye is a cell line.\\nA Jiyoye is bearer of a Burkitt's lymphoma." []	EFO:0002215	"A Jiyoye is a cell line.\\nA Jiyoye is bearer of a Burkitt's lymphoma." []	65084	\N	\N	EFO	0	EFO	Jiyoye	Jiyoye
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002215	"A Jiyoye is a cell line.\\nA Jiyoye is bearer of a Burkitt's lymphoma." []	194534	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	Jiyoye
EFO:0002888	EFO:0002215	\N	"" []	EFO:0002215	"A Jiyoye is a cell line.\\nA Jiyoye is bearer of a Burkitt's lymphoma." []	205905	\N	\N	EFO	1	EFO	Homo sapiens cell line	Jiyoye
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002215	"A Jiyoye is a cell line.\\nA Jiyoye is bearer of a Burkitt's lymphoma." []	559006	\N	\N	EFO	2	EFO	cell line	Jiyoye
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002215	"A Jiyoye is a cell line.\\nA Jiyoye is bearer of a Burkitt's lymphoma." []	1141066	\N	\N	EFO	3	EFO	material entity	Jiyoye
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002215	"A Jiyoye is a cell line.\\nA Jiyoye is bearer of a Burkitt's lymphoma." []	2024016	\N	\N	EFO	4	EFO	experimental factor	Jiyoye
EFO:0002217	\N	\N	"" []	EFO:0002217	"" []	65085	\N	\N	EFO	0	EFO	KATOIII	KATOIII
EFO:0001639	EFO:0002217	\N	"" []	EFO:0002217	"" []	205906	\N	\N	EFO	1	EFO	cancer cell line	KATOIII
EFO:0002888	EFO:0002217	\N	"" []	EFO:0002217	"" []	205907	\N	\N	EFO	1	EFO	Homo sapiens cell line	KATOIII
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002217	"" []	559007	\N	\N	EFO	2	EFO	cell line	KATOIII
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002217	"" []	559008	\N	\N	EFO	2	EFO	cell line	KATOIII
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002217	"" []	1141067	\N	\N	EFO	3	EFO	material entity	KATOIII
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002217	"" []	2024017	\N	\N	EFO	4	EFO	experimental factor	KATOIII
EFO:0002218	\N	\N	"" []	EFO:0002218	"" []	65086	\N	\N	EFO	0	EFO	KG1	KG1
EFO:0002888	EFO:0002218	\N	"" []	EFO:0002218	"" []	205908	\N	\N	EFO	1	EFO	Homo sapiens cell line	KG1
EFO:0002937	EFO:0002218	\N	"" []	EFO:0002218	"" []	205909	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	KG1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002218	"" []	559009	\N	\N	EFO	2	EFO	cell line	KG1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002218	"" []	559010	\N	\N	EFO	2	EFO	cancer cell line	KG1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002218	"" []	2024019	\N	\N	EFO	4	EFO	material entity	KG1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002218	"" []	1141069	\N	\N	EFO	3	EFO	cell line	KG1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002218	"" []	2999375	\N	\N	EFO	5	EFO	experimental factor	KG1
EFO:0002219	\N	\N	"" []	EFO:0002219	"" []	65087	\N	\N	EFO	0	EFO	KHOS240S	KHOS240S
EFO:0001639	EFO:0002219	\N	"" []	EFO:0002219	"" []	205910	\N	\N	EFO	1	EFO	cancer cell line	KHOS240S
EFO:0002888	EFO:0002219	\N	"" []	EFO:0002219	"" []	205911	\N	\N	EFO	1	EFO	Homo sapiens cell line	KHOS240S
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002219	"" []	559011	\N	\N	EFO	2	EFO	cell line	KHOS240S
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002219	"" []	559012	\N	\N	EFO	2	EFO	cell line	KHOS240S
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002219	"" []	1141070	\N	\N	EFO	3	EFO	material entity	KHOS240S
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002219	"" []	2024020	\N	\N	EFO	4	EFO	experimental factor	KHOS240S
EFO:0002220	\N	\N	"" []	EFO:0002220	"" []	65088	\N	\N	EFO	0	EFO	KLE	KLE
EFO:0002888	EFO:0002220	\N	"" []	EFO:0002220	"" []	205912	\N	\N	EFO	1	EFO	Homo sapiens cell line	KLE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002220	"" []	559013	\N	\N	EFO	2	EFO	cell line	KLE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002220	"" []	1141071	\N	\N	EFO	3	EFO	material entity	KLE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002220	"" []	2024021	\N	\N	EFO	4	EFO	experimental factor	KLE
EFO:0002221	\N	\N	"" []	EFO:0002221	"" []	65089	\N	\N	EFO	0	EFO	KPL1	KPL1
EFO:0002884	EFO:0002221	\N	"" []	EFO:0002221	"" []	205913	\N	\N	EFO	1	EFO	mammary gland cell line	KPL1
EFO:0002885	EFO:0002221	\N	"" []	EFO:0002221	"" []	205914	\N	\N	EFO	1	EFO	breast cancer cell line	KPL1
EFO:0002888	EFO:0002221	\N	"" []	EFO:0002221	"" []	205915	\N	\N	EFO	1	EFO	Homo sapiens cell line	KPL1
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002221	"" []	559014	\N	\N	EFO	2	EFO	cell line	KPL1
EFO:0001639	EFO:0002885	\N	"" []	EFO:0002221	"" []	559015	\N	\N	EFO	2	EFO	cancer cell line	KPL1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002221	"" []	559016	\N	\N	EFO	2	EFO	cell line	KPL1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002221	"" []	2024023	\N	\N	EFO	4	EFO	material entity	KPL1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002221	"" []	1141073	\N	\N	EFO	3	EFO	cell line	KPL1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002221	"" []	2999376	\N	\N	EFO	5	EFO	experimental factor	KPL1
EFO:0002222	\N	\N	"" []	EFO:0002222	"" []	65090	\N	\N	EFO	0	EFO	KU812	KU812
EFO:0002888	EFO:0002222	\N	"" []	EFO:0002222	"" []	205916	\N	\N	EFO	1	EFO	Homo sapiens cell line	KU812
EFO:0005294	EFO:0002222	\N	"" []	EFO:0002222	"" []	205917	\N	\N	EFO	1	EFO	chronic myelogenous leukemia cell line	KU812
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002222	"" []	559017	\N	\N	EFO	2	EFO	cell line	KU812
EFO:0002937	EFO:0005294	\N	"" []	EFO:0002222	"" []	559018	\N	\N	EFO	2	EFO	lymphoma or leukaemia cell line	KU812
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002222	"" []	3177435	\N	\N	EFO	5	EFO	material entity	KU812
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002222	"" []	1141075	\N	\N	EFO	3	EFO	cancer cell line	KU812
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002222	"" []	4066685	\N	\N	EFO	6	EFO	experimental factor	KU812
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002222	"" []	2024025	\N	\N	EFO	4	EFO	cell line	KU812
EFO:0002223	\N	\N	"" []	EFO:0002223	"" []	65091	\N	\N	EFO	0	EFO	KYSE30	KYSE30
EFO:0001639	EFO:0002223	\N	"" []	EFO:0002223	"" []	205918	\N	\N	EFO	1	EFO	cancer cell line	KYSE30
EFO:0002888	EFO:0002223	\N	"" []	EFO:0002223	"" []	205919	\N	\N	EFO	1	EFO	Homo sapiens cell line	KYSE30
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002223	"" []	559019	\N	\N	EFO	2	EFO	cell line	KYSE30
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002223	"" []	559020	\N	\N	EFO	2	EFO	cell line	KYSE30
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002223	"" []	1141076	\N	\N	EFO	3	EFO	material entity	KYSE30
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002223	"" []	2024026	\N	\N	EFO	4	EFO	experimental factor	KYSE30
EFO:0002224	\N	\N	"" []	EFO:0002224	"" []	65092	\N	\N	EFO	0	EFO	Kasumi2	Kasumi2
EFO:0002888	EFO:0002224	\N	"" []	EFO:0002224	"" []	205920	\N	\N	EFO	1	EFO	Homo sapiens cell line	Kasumi2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002224	"" []	559021	\N	\N	EFO	2	EFO	cell line	Kasumi2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002224	"" []	1141077	\N	\N	EFO	3	EFO	material entity	Kasumi2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002224	"" []	2024027	\N	\N	EFO	4	EFO	experimental factor	Kasumi2
EFO:0002225	\N	\N	"" []	EFO:0002225	"" []	65093	\N	\N	EFO	0	EFO	L428	L428
EFO:0002888	EFO:0002225	\N	"" []	EFO:0002225	"" []	205921	\N	\N	EFO	1	EFO	Homo sapiens cell line	L428
EFO:0002937	EFO:0002225	\N	"" []	EFO:0002225	"" []	205922	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	L428
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002225	"" []	559022	\N	\N	EFO	2	EFO	cell line	L428
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002225	"" []	559023	\N	\N	EFO	2	EFO	cancer cell line	L428
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002225	"" []	2024029	\N	\N	EFO	4	EFO	material entity	L428
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002225	"" []	1141079	\N	\N	EFO	3	EFO	cell line	L428
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002225	"" []	2999377	\N	\N	EFO	5	EFO	experimental factor	L428
EFO:0002226	\N	\N	"" []	EFO:0002226	"" []	65094	\N	\N	EFO	0	EFO	LS1034	LS1034
BTO:0000797	\N	\N	"" []	EFO:0002226	"" []	194535	\N	\N	EFO	0	EFO	colonic cancer cell line	LS1034
EFO:0001639	EFO:0002226	\N	"" []	EFO:0002226	"" []	205923	\N	\N	EFO	1	EFO	cancer cell line	LS1034
EFO:0002888	EFO:0002226	\N	"" []	EFO:0002226	"" []	205924	\N	\N	EFO	1	EFO	Homo sapiens cell line	LS1034
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002226	"" []	559024	\N	\N	EFO	2	EFO	cell line	LS1034
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002226	"" []	559025	\N	\N	EFO	2	EFO	cell line	LS1034
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002226	"" []	1141080	\N	\N	EFO	3	EFO	material entity	LS1034
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002226	"" []	2024030	\N	\N	EFO	4	EFO	experimental factor	LS1034
EFO:0002227	\N	\N	"" []	EFO:0002227	"" []	65095	\N	\N	EFO	0	EFO	LS174T	LS174T
BTO:0000797	\N	\N	"" []	EFO:0002227	"" []	194536	\N	\N	EFO	0	EFO	colonic cancer cell line	LS174T
EFO:0001639	EFO:0002227	\N	"" []	EFO:0002227	"" []	205925	\N	\N	EFO	1	EFO	cancer cell line	LS174T
EFO:0002888	EFO:0002227	\N	"" []	EFO:0002227	"" []	205926	\N	\N	EFO	1	EFO	Homo sapiens cell line	LS174T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002227	"" []	559026	\N	\N	EFO	2	EFO	cell line	LS174T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002227	"" []	559027	\N	\N	EFO	2	EFO	cell line	LS174T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002227	"" []	1141081	\N	\N	EFO	3	EFO	material entity	LS174T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002227	"" []	2024031	\N	\N	EFO	4	EFO	experimental factor	LS174T
EFO:0002228	\N	\N	"" []	EFO:0002228	"" []	65096	\N	\N	EFO	0	EFO	MC116	MC116
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002228	"" []	194537	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	MC116
EFO:0002888	EFO:0002228	\N	"" []	EFO:0002228	"" []	205927	\N	\N	EFO	1	EFO	Homo sapiens cell line	MC116
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002228	"" []	559028	\N	\N	EFO	2	EFO	cell line	MC116
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002228	"" []	1141082	\N	\N	EFO	3	EFO	material entity	MC116
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002228	"" []	2024032	\N	\N	EFO	4	EFO	experimental factor	MC116
EFO:0002229	\N	\N	"" []	EFO:0002229	"" []	65097	\N	\N	EFO	0	EFO	MCCAR	MCCAR
EFO:0001639	EFO:0002229	\N	"" []	EFO:0002229	"" []	205928	\N	\N	EFO	1	EFO	cancer cell line	MCCAR
EFO:0002888	EFO:0002229	\N	"" []	EFO:0002229	"" []	205929	\N	\N	EFO	1	EFO	Homo sapiens cell line	MCCAR
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002229	"" []	559029	\N	\N	EFO	2	EFO	cell line	MCCAR
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002229	"" []	559030	\N	\N	EFO	2	EFO	cell line	MCCAR
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002229	"" []	1141083	\N	\N	EFO	3	EFO	material entity	MCCAR
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002229	"" []	2024033	\N	\N	EFO	4	EFO	experimental factor	MCCAR
EFO:0002230	\N	\N	"" []	EFO:0002230	"" []	65098	\N	\N	EFO	0	EFO	MCIXC	MCIXC
EFO:0002888	EFO:0002230	\N	"" []	EFO:0002230	"" []	205930	\N	\N	EFO	1	EFO	Homo sapiens cell line	MCIXC
EFO:0005214	EFO:0002230	\N	"A cell line which is a model for neuroblastoma." []	EFO:0002230	"" []	205931	\N	\N	EFO	1	EFO	neuroblastoma cell line	MCIXC
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002230	"" []	559031	\N	\N	EFO	2	EFO	cell line	MCIXC
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002230	"" []	559032	\N	\N	EFO	2	EFO	cell line	MCIXC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002230	"" []	1141084	\N	\N	EFO	3	EFO	material entity	MCIXC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002230	"" []	2024034	\N	\N	EFO	4	EFO	experimental factor	MCIXC
EFO:0002231	\N	\N	"" []	EFO:0002231	"" []	65099	\N	\N	EFO	0	EFO	MEC1	MEC1
EFO:0002888	EFO:0002231	\N	"" []	EFO:0002231	"" []	205932	\N	\N	EFO	1	EFO	Homo sapiens cell line	MEC1
EFO:0002937	EFO:0002231	\N	"" []	EFO:0002231	"" []	205933	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	MEC1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002231	"" []	559033	\N	\N	EFO	2	EFO	cell line	MEC1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002231	"" []	559034	\N	\N	EFO	2	EFO	cancer cell line	MEC1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002231	"" []	2024036	\N	\N	EFO	4	EFO	material entity	MEC1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002231	"" []	1141086	\N	\N	EFO	3	EFO	cell line	MEC1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002231	"" []	2999378	\N	\N	EFO	5	EFO	experimental factor	MEC1
EFO:0002232	\N	\N	"" []	EFO:0002232	"" []	65100	\N	\N	EFO	0	EFO	MEG01	MEG01
EFO:0002888	EFO:0002232	\N	"" []	EFO:0002232	"" []	205934	\N	\N	EFO	1	EFO	Homo sapiens cell line	MEG01
EFO:0005294	EFO:0002232	\N	"" []	EFO:0002232	"" []	205935	\N	\N	EFO	1	EFO	chronic myelogenous leukemia cell line	MEG01
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002232	"" []	559035	\N	\N	EFO	2	EFO	cell line	MEG01
EFO:0002937	EFO:0005294	\N	"" []	EFO:0002232	"" []	559036	\N	\N	EFO	2	EFO	lymphoma or leukaemia cell line	MEG01
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002232	"" []	3177436	\N	\N	EFO	5	EFO	material entity	MEG01
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002232	"" []	1141088	\N	\N	EFO	3	EFO	cancer cell line	MEG01
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002232	"" []	4066686	\N	\N	EFO	6	EFO	experimental factor	MEG01
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002232	"" []	2024038	\N	\N	EFO	4	EFO	cell line	MEG01
EFO:0002233	\N	\N	"" []	EFO:0002233	"" []	65101	\N	\N	EFO	0	EFO	MESSA	MESSA
BTO:0002488	\N	\N	"" []	EFO:0002233	"" []	194538	\N	\N	EFO	0	EFO	uterine leiomyosarcoma cell line	MESSA
EFO:0002888	EFO:0002233	\N	"" []	EFO:0002233	"" []	205936	\N	\N	EFO	1	EFO	Homo sapiens cell line	MESSA
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002233	"" []	559037	\N	\N	EFO	2	EFO	cell line	MESSA
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002233	"" []	1141089	\N	\N	EFO	3	EFO	material entity	MESSA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002233	"" []	2024039	\N	\N	EFO	4	EFO	experimental factor	MESSA
EFO:0002234	\N	\N	"" []	EFO:0002234	"" []	65102	\N	\N	EFO	0	EFO	MG63	MG63
EFO:0001639	EFO:0002234	\N	"" []	EFO:0002234	"" []	205937	\N	\N	EFO	1	EFO	cancer cell line	MG63
EFO:0002888	EFO:0002234	\N	"" []	EFO:0002234	"" []	205938	\N	\N	EFO	1	EFO	Homo sapiens cell line	MG63
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002234	"" []	559038	\N	\N	EFO	2	EFO	cell line	MG63
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002234	"" []	559039	\N	\N	EFO	2	EFO	cell line	MG63
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002234	"" []	1141090	\N	\N	EFO	3	EFO	material entity	MG63
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002234	"" []	2024040	\N	\N	EFO	4	EFO	experimental factor	MG63
EFO:0002235	\N	\N	"" []	EFO:0002235	"" []	65103	\N	\N	EFO	0	EFO	MHHPREB1	MHHPREB1
EFO:0001639	EFO:0002235	\N	"" []	EFO:0002235	"" []	205939	\N	\N	EFO	1	EFO	cancer cell line	MHHPREB1
EFO:0002888	EFO:0002235	\N	"" []	EFO:0002235	"" []	205940	\N	\N	EFO	1	EFO	Homo sapiens cell line	MHHPREB1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002235	"" []	559040	\N	\N	EFO	2	EFO	cell line	MHHPREB1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002235	"" []	559041	\N	\N	EFO	2	EFO	cell line	MHHPREB1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002235	"" []	1141091	\N	\N	EFO	3	EFO	material entity	MHHPREB1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002235	"" []	2024041	\N	\N	EFO	4	EFO	experimental factor	MHHPREB1
EFO:0002236	\N	\N	"" []	EFO:0002236	"" []	65104	\N	\N	EFO	0	EFO	MIA Paca-2	MIA Paca-2
EFO:0001639	EFO:0002236	\N	"" []	EFO:0002236	"" []	205941	\N	\N	EFO	1	EFO	cancer cell line	MIA Paca-2
EFO:0002888	EFO:0002236	\N	"" []	EFO:0002236	"" []	205942	\N	\N	EFO	1	EFO	Homo sapiens cell line	MIA Paca-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002236	"" []	559042	\N	\N	EFO	2	EFO	cell line	MIA Paca-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002236	"" []	559043	\N	\N	EFO	2	EFO	cell line	MIA Paca-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002236	"" []	1141092	\N	\N	EFO	3	EFO	material entity	MIA Paca-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002236	"" []	2024042	\N	\N	EFO	4	EFO	experimental factor	MIA Paca-2
EFO:0002237	\N	\N	"" []	EFO:0002237	"" []	65105	\N	\N	EFO	0	EFO	MJ	MJ
EFO:0001639	EFO:0002237	\N	"" []	EFO:0002237	"" []	205943	\N	\N	EFO	1	EFO	cancer cell line	MJ
EFO:0002888	EFO:0002237	\N	"" []	EFO:0002237	"" []	205944	\N	\N	EFO	1	EFO	Homo sapiens cell line	MJ
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002237	"" []	559044	\N	\N	EFO	2	EFO	cell line	MJ
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002237	"" []	559045	\N	\N	EFO	2	EFO	cell line	MJ
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002237	"" []	1141093	\N	\N	EFO	3	EFO	material entity	MJ
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002237	"" []	2024043	\N	\N	EFO	4	EFO	experimental factor	MJ
EFO:0002238	\N	\N	"" []	EFO:0002238	"" []	65106	\N	\N	EFO	0	EFO	ML2	ML2
EFO:0002888	EFO:0002238	\N	"" []	EFO:0002238	"" []	205945	\N	\N	EFO	1	EFO	Homo sapiens cell line	ML2
EFO:0002937	EFO:0002238	\N	"" []	EFO:0002238	"" []	205946	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	ML2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002238	"" []	559046	\N	\N	EFO	2	EFO	cell line	ML2
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002238	"" []	559047	\N	\N	EFO	2	EFO	cancer cell line	ML2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002238	"" []	2024045	\N	\N	EFO	4	EFO	material entity	ML2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002238	"" []	1141095	\N	\N	EFO	3	EFO	cell line	ML2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002238	"" []	2999379	\N	\N	EFO	5	EFO	experimental factor	ML2
EFO:0002239	\N	\N	"" []	EFO:0002239	"" []	65107	\N	\N	EFO	0	EFO	MOLT16	MOLT16
EFO:0001639	EFO:0002239	\N	"" []	EFO:0002239	"" []	205947	\N	\N	EFO	1	EFO	cancer cell line	MOLT16
EFO:0002888	EFO:0002239	\N	"" []	EFO:0002239	"" []	205948	\N	\N	EFO	1	EFO	Homo sapiens cell line	MOLT16
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002239	"" []	559048	\N	\N	EFO	2	EFO	cell line	MOLT16
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002239	"" []	559049	\N	\N	EFO	2	EFO	cell line	MOLT16
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002239	"" []	1141096	\N	\N	EFO	3	EFO	material entity	MOLT16
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002239	"" []	2024046	\N	\N	EFO	4	EFO	experimental factor	MOLT16
EFO:0002241	\N	\N	"" []	EFO:0002241	"" []	65108	\N	\N	EFO	0	EFO	MT3	MT3
EFO:0002884	EFO:0002241	\N	"" []	EFO:0002241	"" []	205949	\N	\N	EFO	1	EFO	mammary gland cell line	MT3
EFO:0002885	EFO:0002241	\N	"" []	EFO:0002241	"" []	205950	\N	\N	EFO	1	EFO	breast cancer cell line	MT3
EFO:0002888	EFO:0002241	\N	"" []	EFO:0002241	"" []	205951	\N	\N	EFO	1	EFO	Homo sapiens cell line	MT3
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002241	"" []	559050	\N	\N	EFO	2	EFO	cell line	MT3
EFO:0001639	EFO:0002885	\N	"" []	EFO:0002241	"" []	559051	\N	\N	EFO	2	EFO	cancer cell line	MT3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002241	"" []	559052	\N	\N	EFO	2	EFO	cell line	MT3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002241	"" []	2024048	\N	\N	EFO	4	EFO	material entity	MT3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002241	"" []	1141098	\N	\N	EFO	3	EFO	cell line	MT3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002241	"" []	2999380	\N	\N	EFO	5	EFO	experimental factor	MT3
EFO:0002242	\N	\N	"" []	EFO:0002242	"" []	65109	\N	\N	EFO	0	EFO	MV4II	MV4II
EFO:0002888	EFO:0002242	\N	"" []	EFO:0002242	"" []	205952	\N	\N	EFO	1	EFO	Homo sapiens cell line	MV4II
EFO:0002937	EFO:0002242	\N	"" []	EFO:0002242	"" []	205953	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	MV4II
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002242	"" []	559053	\N	\N	EFO	2	EFO	cell line	MV4II
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002242	"" []	559054	\N	\N	EFO	2	EFO	cancer cell line	MV4II
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002242	"" []	2024050	\N	\N	EFO	4	EFO	material entity	MV4II
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002242	"" []	1141100	\N	\N	EFO	3	EFO	cell line	MV4II
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002242	"" []	2999381	\N	\N	EFO	5	EFO	experimental factor	MV4II
EFO:0002243	\N	\N	"" []	EFO:0002243	"" []	65110	\N	\N	EFO	0	EFO	Malme3M	Malme3M
BTO:0000849	EFO:0002243	\N	"" []	EFO:0002243	"" []	205954	\N	\N	EFO	1	EFO	melanoma cell line	Malme3M
EFO:0002888	EFO:0002243	\N	"" []	EFO:0002243	"" []	205955	\N	\N	EFO	1	EFO	Homo sapiens cell line	Malme3M
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002243	"" []	559055	\N	\N	EFO	2	EFO	cancer cell line	Malme3M
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002243	"" []	559056	\N	\N	EFO	2	EFO	cell line	Malme3M
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002243	"" []	1141101	\N	\N	EFO	3	EFO	cell line	Malme3M
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002243	"" []	2024051	\N	\N	EFO	4	EFO	material entity	Malme3M
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002243	"" []	2999382	\N	\N	EFO	5	EFO	experimental factor	Malme3M
EFO:0002244	\N	\N	"" []	EFO:0002244	"" []	65111	\N	\N	EFO	0	EFO	NALM1	NALM1
EFO:0002888	EFO:0002244	\N	"" []	EFO:0002244	"" []	205956	\N	\N	EFO	1	EFO	Homo sapiens cell line	NALM1
EFO:0005294	EFO:0002244	\N	"" []	EFO:0002244	"" []	205957	\N	\N	EFO	1	EFO	chronic myelogenous leukemia cell line	NALM1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002244	"" []	559057	\N	\N	EFO	2	EFO	cell line	NALM1
EFO:0002937	EFO:0005294	\N	"" []	EFO:0002244	"" []	559058	\N	\N	EFO	2	EFO	lymphoma or leukaemia cell line	NALM1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002244	"" []	3177437	\N	\N	EFO	5	EFO	material entity	NALM1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002244	"" []	1141104	\N	\N	EFO	3	EFO	cancer cell line	NALM1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002244	"" []	4066687	\N	\N	EFO	6	EFO	experimental factor	NALM1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002244	"" []	2024054	\N	\N	EFO	4	EFO	cell line	NALM1
EFO:0002245	\N	\N	"" []	EFO:0002245	"" []	65112	\N	\N	EFO	0	EFO	NALM6	NALM6
EFO:0001639	EFO:0002245	\N	"" []	EFO:0002245	"" []	205958	\N	\N	EFO	1	EFO	cancer cell line	NALM6
EFO:0002888	EFO:0002245	\N	"" []	EFO:0002245	"" []	205959	\N	\N	EFO	1	EFO	Homo sapiens cell line	NALM6
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002245	"" []	559059	\N	\N	EFO	2	EFO	cell line	NALM6
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002245	"" []	559060	\N	\N	EFO	2	EFO	cell line	NALM6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002245	"" []	1141105	\N	\N	EFO	3	EFO	material entity	NALM6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002245	"" []	2024055	\N	\N	EFO	4	EFO	experimental factor	NALM6
EFO:0002246	\N	\N	"" []	EFO:0002246	"" []	65113	\N	\N	EFO	0	EFO	NAMALWA	NAMALWA
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002246	"" []	194539	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	NAMALWA
EFO:0002888	EFO:0002246	\N	"" []	EFO:0002246	"" []	205960	\N	\N	EFO	1	EFO	Homo sapiens cell line	NAMALWA
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002246	"" []	559061	\N	\N	EFO	2	EFO	cell line	NAMALWA
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002246	"" []	1141106	\N	\N	EFO	3	EFO	material entity	NAMALWA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002246	"" []	2024056	\N	\N	EFO	4	EFO	experimental factor	NAMALWA
EFO:0002247	\N	\N	"" []	EFO:0002247	"" []	65114	\N	\N	EFO	0	EFO	NC37	NC37
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002247	"" []	194540	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	NC37
EFO:0002248	\N	\N	"" []	EFO:0002248	"" []	65115	\N	\N	EFO	0	EFO	NCI-H1048	NCI-H1048
EFO:0002888	EFO:0002248	\N	"" []	EFO:0002248	"" []	205961	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1048
EFO:0002937	EFO:0002248	\N	"" []	EFO:0002248	"" []	205962	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	NCI-H1048
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002248	"" []	559062	\N	\N	EFO	2	EFO	cell line	NCI-H1048
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002248	"" []	559063	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1048
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002248	"" []	2024058	\N	\N	EFO	4	EFO	material entity	NCI-H1048
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002248	"" []	1141108	\N	\N	EFO	3	EFO	cell line	NCI-H1048
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002248	"" []	2999383	\N	\N	EFO	5	EFO	experimental factor	NCI-H1048
EFO:0002249	\N	\N	"" []	EFO:0002249	"" []	65116	\N	\N	EFO	0	EFO	NCI-H1092	NCI-H1092
EFO:0002888	EFO:0002249	\N	"" []	EFO:0002249	"" []	205963	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1092
EFO:0002934	EFO:0002249	\N	"" []	EFO:0002249	"" []	205964	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1092
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002249	"" []	559064	\N	\N	EFO	2	EFO	cell line	NCI-H1092
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002249	"" []	559065	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1092
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002249	"" []	2024060	\N	\N	EFO	4	EFO	material entity	NCI-H1092
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002249	"" []	1141110	\N	\N	EFO	3	EFO	cell line	NCI-H1092
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002249	"" []	2999384	\N	\N	EFO	5	EFO	experimental factor	NCI-H1092
EFO:0002250	\N	\N	"" []	EFO:0002250	"" []	65117	\N	\N	EFO	0	EFO	NCI-H1155	NCI-H1155
EFO:0002888	EFO:0002250	\N	"" []	EFO:0002250	"" []	205965	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1155
EFO:0002934	EFO:0002250	\N	"" []	EFO:0002250	"" []	205966	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1155
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002250	"" []	559066	\N	\N	EFO	2	EFO	cell line	NCI-H1155
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002250	"" []	559067	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1155
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002250	"" []	2024062	\N	\N	EFO	4	EFO	material entity	NCI-H1155
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002250	"" []	1141112	\N	\N	EFO	3	EFO	cell line	NCI-H1155
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002250	"" []	2999385	\N	\N	EFO	5	EFO	experimental factor	NCI-H1155
EFO:0002251	\N	\N	"" []	EFO:0002251	"" []	65118	\N	\N	EFO	0	EFO	NCI-H1355	NCI-H1355
EFO:0002888	EFO:0002251	\N	"" []	EFO:0002251	"" []	205967	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1355
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002251	"" []	559068	\N	\N	EFO	2	EFO	cell line	NCI-H1355
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002251	"" []	1141113	\N	\N	EFO	3	EFO	material entity	NCI-H1355
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002251	"" []	2024063	\N	\N	EFO	4	EFO	experimental factor	NCI-H1355
EFO:0002252	\N	\N	"" []	EFO:0002252	"" []	65119	\N	\N	EFO	0	EFO	NCI-H1395	NCI-H1395
EFO:0002888	EFO:0002252	\N	"" []	EFO:0002252	"" []	205968	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1395
EFO:0002934	EFO:0002252	\N	"" []	EFO:0002252	"" []	205969	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1395
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002252	"" []	559069	\N	\N	EFO	2	EFO	cell line	NCI-H1395
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002252	"" []	559070	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1395
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002252	"" []	2024065	\N	\N	EFO	4	EFO	material entity	NCI-H1395
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002252	"" []	1141115	\N	\N	EFO	3	EFO	cell line	NCI-H1395
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002252	"" []	2999386	\N	\N	EFO	5	EFO	experimental factor	NCI-H1395
EFO:0002253	\N	\N	"" []	EFO:0002253	"" []	65120	\N	\N	EFO	0	EFO	NCI-H1436	NCI-H1436
EFO:0002888	EFO:0002253	\N	"" []	EFO:0002253	"" []	205970	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1436
EFO:0002934	EFO:0002253	\N	"" []	EFO:0002253	"" []	205971	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1436
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002253	"" []	559071	\N	\N	EFO	2	EFO	cell line	NCI-H1436
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002253	"" []	559072	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1436
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002253	"" []	2024067	\N	\N	EFO	4	EFO	material entity	NCI-H1436
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002253	"" []	1141117	\N	\N	EFO	3	EFO	cell line	NCI-H1436
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002253	"" []	2999387	\N	\N	EFO	5	EFO	experimental factor	NCI-H1436
EFO:0002254	\N	\N	"" []	EFO:0002254	"" []	65121	\N	\N	EFO	0	EFO	NCI-H1437	NCI-H1437
EFO:0002888	EFO:0002254	\N	"" []	EFO:0002254	"" []	205972	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1437
EFO:0002934	EFO:0002254	\N	"" []	EFO:0002254	"" []	205973	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1437
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002254	"" []	559073	\N	\N	EFO	2	EFO	cell line	NCI-H1437
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002254	"" []	559074	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1437
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002254	"" []	2024069	\N	\N	EFO	4	EFO	material entity	NCI-H1437
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002254	"" []	1141119	\N	\N	EFO	3	EFO	cell line	NCI-H1437
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002254	"" []	2999388	\N	\N	EFO	5	EFO	experimental factor	NCI-H1437
EFO:0002255	\N	\N	"" []	EFO:0002255	"" []	65122	\N	\N	EFO	0	EFO	NCI-H1563	NCI-H1563
EFO:0002888	EFO:0002255	\N	"" []	EFO:0002255	"" []	205974	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1563
EFO:0002934	EFO:0002255	\N	"" []	EFO:0002255	"" []	205975	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1563
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002255	"" []	559075	\N	\N	EFO	2	EFO	cell line	NCI-H1563
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002255	"" []	559076	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1563
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002255	"" []	2024071	\N	\N	EFO	4	EFO	material entity	NCI-H1563
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002255	"" []	1141121	\N	\N	EFO	3	EFO	cell line	NCI-H1563
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002255	"" []	2999389	\N	\N	EFO	5	EFO	experimental factor	NCI-H1563
EFO:0002256	\N	\N	"" []	EFO:0002256	"" []	65123	\N	\N	EFO	0	EFO	NCI-H1573	NCI-H1573
EFO:0002888	EFO:0002256	\N	"" []	EFO:0002256	"" []	205976	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1573
EFO:0002934	EFO:0002256	\N	"" []	EFO:0002256	"" []	205977	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1573
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002256	"" []	559077	\N	\N	EFO	2	EFO	cell line	NCI-H1573
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002256	"" []	559078	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1573
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002256	"" []	2024073	\N	\N	EFO	4	EFO	material entity	NCI-H1573
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002256	"" []	1141123	\N	\N	EFO	3	EFO	cell line	NCI-H1573
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002256	"" []	2999390	\N	\N	EFO	5	EFO	experimental factor	NCI-H1573
EFO:0002257	\N	\N	"" []	EFO:0002257	"" []	65124	\N	\N	EFO	0	EFO	NCI-H1581	NCI-H1581
EFO:0002888	EFO:0002257	\N	"" []	EFO:0002257	"" []	205978	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1581
EFO:0002934	EFO:0002257	\N	"" []	EFO:0002257	"" []	205979	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1581
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002257	"" []	559079	\N	\N	EFO	2	EFO	cell line	NCI-H1581
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002257	"" []	559080	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1581
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002257	"" []	2024075	\N	\N	EFO	4	EFO	material entity	NCI-H1581
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002257	"" []	1141125	\N	\N	EFO	3	EFO	cell line	NCI-H1581
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002257	"" []	2999391	\N	\N	EFO	5	EFO	experimental factor	NCI-H1581
EFO:0002258	\N	\N	"" []	EFO:0002258	"" []	65125	\N	\N	EFO	0	EFO	NCI-H1618	NCI-H1618
EFO:0002888	EFO:0002258	\N	"" []	EFO:0002258	"" []	205980	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1618
EFO:0002934	EFO:0002258	\N	"" []	EFO:0002258	"" []	205981	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1618
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002258	"" []	559081	\N	\N	EFO	2	EFO	cell line	NCI-H1618
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002258	"" []	559082	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1618
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002258	"" []	2024077	\N	\N	EFO	4	EFO	material entity	NCI-H1618
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002258	"" []	1141127	\N	\N	EFO	3	EFO	cell line	NCI-H1618
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002258	"" []	2999392	\N	\N	EFO	5	EFO	experimental factor	NCI-H1618
EFO:0002259	\N	\N	"" []	EFO:0002259	"" []	65126	\N	\N	EFO	0	EFO	NCI-H1623	NCI-H1623
EFO:0002888	EFO:0002259	\N	"" []	EFO:0002259	"" []	205982	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1623
EFO:0002934	EFO:0002259	\N	"" []	EFO:0002259	"" []	205983	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1623
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002259	"" []	559083	\N	\N	EFO	2	EFO	cell line	NCI-H1623
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002259	"" []	559084	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1623
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002259	"" []	2024079	\N	\N	EFO	4	EFO	material entity	NCI-H1623
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002259	"" []	1141129	\N	\N	EFO	3	EFO	cell line	NCI-H1623
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002259	"" []	2999393	\N	\N	EFO	5	EFO	experimental factor	NCI-H1623
EFO:0002260	\N	\N	"" []	EFO:0002260	"" []	65127	\N	\N	EFO	0	EFO	NCI-H1650	NCI-H1650
EFO:0002888	EFO:0002260	\N	"" []	EFO:0002260	"" []	205984	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1650
EFO:0002934	EFO:0002260	\N	"" []	EFO:0002260	"" []	205985	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1650
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002260	"" []	559085	\N	\N	EFO	2	EFO	cell line	NCI-H1650
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002260	"" []	559086	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1650
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002260	"" []	2024081	\N	\N	EFO	4	EFO	material entity	NCI-H1650
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002260	"" []	1141131	\N	\N	EFO	3	EFO	cell line	NCI-H1650
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002260	"" []	2999394	\N	\N	EFO	5	EFO	experimental factor	NCI-H1650
EFO:0002261	\N	\N	"" []	EFO:0002261	"" []	65128	\N	\N	EFO	0	EFO	NCI-H1651	NCI-H1651
EFO:0002888	EFO:0002261	\N	"" []	EFO:0002261	"" []	205986	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1651
EFO:0002934	EFO:0002261	\N	"" []	EFO:0002261	"" []	205987	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1651
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002261	"" []	559087	\N	\N	EFO	2	EFO	cell line	NCI-H1651
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002261	"" []	559088	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1651
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002261	"" []	2024083	\N	\N	EFO	4	EFO	material entity	NCI-H1651
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002261	"" []	1141133	\N	\N	EFO	3	EFO	cell line	NCI-H1651
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002261	"" []	2999395	\N	\N	EFO	5	EFO	experimental factor	NCI-H1651
EFO:0002262	\N	\N	"" []	EFO:0002262	"" []	65129	\N	\N	EFO	0	EFO	NCI-H1666	NCI-H1666
EFO:0002888	EFO:0002262	\N	"" []	EFO:0002262	"" []	205988	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1666
EFO:0002934	EFO:0002262	\N	"" []	EFO:0002262	"" []	205989	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1666
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002262	"" []	559089	\N	\N	EFO	2	EFO	cell line	NCI-H1666
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002262	"" []	559090	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1666
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002262	"" []	2024085	\N	\N	EFO	4	EFO	material entity	NCI-H1666
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002262	"" []	1141135	\N	\N	EFO	3	EFO	cell line	NCI-H1666
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002262	"" []	2999396	\N	\N	EFO	5	EFO	experimental factor	NCI-H1666
EFO:0002263	\N	\N	"" []	EFO:0002263	"" []	65130	\N	\N	EFO	0	EFO	NCI-H1694	NCI-H1694
EFO:0002888	EFO:0002263	\N	"" []	EFO:0002263	"" []	205990	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1694
EFO:0002934	EFO:0002263	\N	"" []	EFO:0002263	"" []	205991	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1694
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002263	"" []	559091	\N	\N	EFO	2	EFO	cell line	NCI-H1694
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002263	"" []	559092	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1694
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002263	"" []	2024087	\N	\N	EFO	4	EFO	material entity	NCI-H1694
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002263	"" []	1141137	\N	\N	EFO	3	EFO	cell line	NCI-H1694
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002263	"" []	2999397	\N	\N	EFO	5	EFO	experimental factor	NCI-H1694
EFO:0002264	\N	\N	"" []	EFO:0002264	"" []	65131	\N	\N	EFO	0	EFO	NCI-H1703	NCI-H1703
EFO:0002888	EFO:0002264	\N	"" []	EFO:0002264	"" []	205992	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1703
EFO:0002934	EFO:0002264	\N	"" []	EFO:0002264	"" []	205993	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1703
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002264	"" []	559093	\N	\N	EFO	2	EFO	cell line	NCI-H1703
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002264	"" []	559094	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1703
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002264	"" []	2024089	\N	\N	EFO	4	EFO	material entity	NCI-H1703
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002264	"" []	1141139	\N	\N	EFO	3	EFO	cell line	NCI-H1703
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002264	"" []	2999398	\N	\N	EFO	5	EFO	experimental factor	NCI-H1703
EFO:0002265	\N	\N	"" []	EFO:0002265	"" []	65132	\N	\N	EFO	0	EFO	NCI-H1770	NCI-H1770
EFO:0002888	EFO:0002265	\N	"" []	EFO:0002265	"" []	205994	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1770
EFO:0002934	EFO:0002265	\N	"" []	EFO:0002265	"" []	205995	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1770
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002265	"" []	559095	\N	\N	EFO	2	EFO	cell line	NCI-H1770
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002265	"" []	559096	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1770
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002265	"" []	2024091	\N	\N	EFO	4	EFO	material entity	NCI-H1770
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002265	"" []	1141141	\N	\N	EFO	3	EFO	cell line	NCI-H1770
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002265	"" []	2999399	\N	\N	EFO	5	EFO	experimental factor	NCI-H1770
EFO:0002266	\N	\N	"" []	EFO:0002266	"" []	65133	\N	\N	EFO	0	EFO	NCI-H1792	NCI-H1792
EFO:0002888	EFO:0002266	\N	"" []	EFO:0002266	"" []	205996	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1792
EFO:0002934	EFO:0002266	\N	"" []	EFO:0002266	"" []	205997	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1792
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002266	"" []	559097	\N	\N	EFO	2	EFO	cell line	NCI-H1792
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002266	"" []	559098	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1792
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002266	"" []	2024093	\N	\N	EFO	4	EFO	material entity	NCI-H1792
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002266	"" []	1141143	\N	\N	EFO	3	EFO	cell line	NCI-H1792
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002266	"" []	2999400	\N	\N	EFO	5	EFO	experimental factor	NCI-H1792
EFO:0002267	\N	\N	"" []	EFO:0002267	"" []	65134	\N	\N	EFO	0	EFO	NCI-H1793	NCI-H1793
EFO:0002888	EFO:0002267	\N	"" []	EFO:0002267	"" []	205998	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1793
EFO:0002934	EFO:0002267	\N	"" []	EFO:0002267	"" []	205999	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1793
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002267	"" []	559099	\N	\N	EFO	2	EFO	cell line	NCI-H1793
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002267	"" []	559100	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1793
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002267	"" []	2024095	\N	\N	EFO	4	EFO	material entity	NCI-H1793
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002267	"" []	1141145	\N	\N	EFO	3	EFO	cell line	NCI-H1793
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002267	"" []	2999401	\N	\N	EFO	5	EFO	experimental factor	NCI-H1793
EFO:0002268	\N	\N	"" []	EFO:0002268	"" []	65135	\N	\N	EFO	0	EFO	NCI-H1838	NCI-H1838
EFO:0002888	EFO:0002268	\N	"" []	EFO:0002268	"" []	206000	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1838
EFO:0002934	EFO:0002268	\N	"" []	EFO:0002268	"" []	206001	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1838
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002268	"" []	559101	\N	\N	EFO	2	EFO	cell line	NCI-H1838
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002268	"" []	559102	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1838
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002268	"" []	2024097	\N	\N	EFO	4	EFO	material entity	NCI-H1838
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002268	"" []	1141147	\N	\N	EFO	3	EFO	cell line	NCI-H1838
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002268	"" []	2999402	\N	\N	EFO	5	EFO	experimental factor	NCI-H1838
EFO:0002269	\N	\N	"" []	EFO:0002269	"" []	65136	\N	\N	EFO	0	EFO	NCI-H187	NCI-H187
EFO:0002888	EFO:0002269	\N	"" []	EFO:0002269	"" []	206002	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H187
EFO:0002934	EFO:0002269	\N	"" []	EFO:0002269	"" []	206003	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H187
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002269	"" []	559103	\N	\N	EFO	2	EFO	cell line	NCI-H187
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002269	"" []	559104	\N	\N	EFO	2	EFO	cancer cell line	NCI-H187
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002269	"" []	2024099	\N	\N	EFO	4	EFO	material entity	NCI-H187
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002269	"" []	1141149	\N	\N	EFO	3	EFO	cell line	NCI-H187
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002269	"" []	2999403	\N	\N	EFO	5	EFO	experimental factor	NCI-H187
EFO:0002270	\N	\N	"" []	EFO:0002270	"" []	65137	\N	\N	EFO	0	EFO	NCI-H1930	NCI-H1930
EFO:0002888	EFO:0002270	\N	"" []	EFO:0002270	"" []	206004	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1930
EFO:0002934	EFO:0002270	\N	"" []	EFO:0002270	"" []	206005	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1930
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002270	"" []	559105	\N	\N	EFO	2	EFO	cell line	NCI-H1930
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002270	"" []	559106	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1930
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002270	"" []	2024101	\N	\N	EFO	4	EFO	material entity	NCI-H1930
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002270	"" []	1141151	\N	\N	EFO	3	EFO	cell line	NCI-H1930
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002270	"" []	2999404	\N	\N	EFO	5	EFO	experimental factor	NCI-H1930
EFO:0002271	\N	\N	"" []	EFO:0002271	"" []	65138	\N	\N	EFO	0	EFO	NCI-H1975	NCI-H1975
EFO:0002888	EFO:0002271	\N	"" []	EFO:0002271	"" []	206006	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1975
EFO:0002934	EFO:0002271	\N	"" []	EFO:0002271	"" []	206007	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1975
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002271	"" []	559107	\N	\N	EFO	2	EFO	cell line	NCI-H1975
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002271	"" []	559108	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1975
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002271	"" []	2024103	\N	\N	EFO	4	EFO	material entity	NCI-H1975
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002271	"" []	1141153	\N	\N	EFO	3	EFO	cell line	NCI-H1975
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002271	"" []	2999405	\N	\N	EFO	5	EFO	experimental factor	NCI-H1975
EFO:0002272	\N	\N	"" []	EFO:0002272	"" []	65139	\N	\N	EFO	0	EFO	NCI-H1993	NCI-H1993
EFO:0002888	EFO:0002272	\N	"" []	EFO:0002272	"" []	206008	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1993
EFO:0002934	EFO:0002272	\N	"" []	EFO:0002272	"" []	206009	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1993
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002272	"" []	559109	\N	\N	EFO	2	EFO	cell line	NCI-H1993
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002272	"" []	559110	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1993
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002272	"" []	2024105	\N	\N	EFO	4	EFO	material entity	NCI-H1993
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002272	"" []	1141155	\N	\N	EFO	3	EFO	cell line	NCI-H1993
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002272	"" []	2999406	\N	\N	EFO	5	EFO	experimental factor	NCI-H1993
EFO:0002273	\N	\N	"" []	EFO:0002273	"" []	65140	\N	\N	EFO	0	EFO	NCI-H2009	NCI-H2009
EFO:0002888	EFO:0002273	\N	"" []	EFO:0002273	"" []	206010	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2009
EFO:0002934	EFO:0002273	\N	"" []	EFO:0002273	"" []	206011	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2009
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002273	"" []	559111	\N	\N	EFO	2	EFO	cell line	NCI-H2009
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002273	"" []	559112	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2009
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002273	"" []	2024107	\N	\N	EFO	4	EFO	material entity	NCI-H2009
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002273	"" []	1141157	\N	\N	EFO	3	EFO	cell line	NCI-H2009
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002273	"" []	2999407	\N	\N	EFO	5	EFO	experimental factor	NCI-H2009
EFO:0002274	\N	\N	"" []	EFO:0002274	"" []	65141	\N	\N	EFO	0	EFO	NCI-H2030	NCI-H2030
EFO:0002888	EFO:0002274	\N	"" []	EFO:0002274	"" []	206012	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2030
EFO:0002934	EFO:0002274	\N	"" []	EFO:0002274	"" []	206013	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2030
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002274	"" []	559113	\N	\N	EFO	2	EFO	cell line	NCI-H2030
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002274	"" []	559114	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2030
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002274	"" []	2024109	\N	\N	EFO	4	EFO	material entity	NCI-H2030
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002274	"" []	1141159	\N	\N	EFO	3	EFO	cell line	NCI-H2030
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002274	"" []	2999408	\N	\N	EFO	5	EFO	experimental factor	NCI-H2030
EFO:0002275	\N	\N	"" []	EFO:0002275	"" []	65142	\N	\N	EFO	0	EFO	NCI-H2052	NCI-H2052
EFO:0001639	EFO:0002275	\N	"" []	EFO:0002275	"" []	206014	\N	\N	EFO	1	EFO	cancer cell line	NCI-H2052
EFO:0002888	EFO:0002275	\N	"" []	EFO:0002275	"" []	206015	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2052
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002275	"" []	559115	\N	\N	EFO	2	EFO	cell line	NCI-H2052
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002275	"" []	559116	\N	\N	EFO	2	EFO	cell line	NCI-H2052
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002275	"" []	1141160	\N	\N	EFO	3	EFO	material entity	NCI-H2052
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002275	"" []	2024110	\N	\N	EFO	4	EFO	experimental factor	NCI-H2052
EFO:0002276	\N	\N	"" []	EFO:0002276	"" []	65143	\N	\N	EFO	0	EFO	NCI-H2081	NCI-H2081
EFO:0002888	EFO:0002276	\N	"" []	EFO:0002276	"" []	206016	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2081
EFO:0002934	EFO:0002276	\N	"" []	EFO:0002276	"" []	206017	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2081
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002276	"" []	559117	\N	\N	EFO	2	EFO	cell line	NCI-H2081
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002276	"" []	559118	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2081
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002276	"" []	2024112	\N	\N	EFO	4	EFO	material entity	NCI-H2081
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002276	"" []	1141162	\N	\N	EFO	3	EFO	cell line	NCI-H2081
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002276	"" []	2999409	\N	\N	EFO	5	EFO	experimental factor	NCI-H2081
EFO:0002277	\N	\N	"" []	EFO:0002277	"" []	65144	\N	\N	EFO	0	EFO	NCI-H2087	NCI-H2087
EFO:0002888	EFO:0002277	\N	"" []	EFO:0002277	"" []	206018	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2087
EFO:0002934	EFO:0002277	\N	"" []	EFO:0002277	"" []	206019	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2087
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002277	"" []	559119	\N	\N	EFO	2	EFO	cell line	NCI-H2087
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002277	"" []	559120	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2087
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002277	"" []	2024114	\N	\N	EFO	4	EFO	material entity	NCI-H2087
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002277	"" []	1141164	\N	\N	EFO	3	EFO	cell line	NCI-H2087
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002277	"" []	2999410	\N	\N	EFO	5	EFO	experimental factor	NCI-H2087
EFO:0002278	\N	\N	"" []	EFO:0002278	"" []	65145	\N	\N	EFO	0	EFO	NCI-H2107	NCI-H2107
EFO:0002888	EFO:0002278	\N	"" []	EFO:0002278	"" []	206020	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2107
EFO:0002934	EFO:0002278	\N	"" []	EFO:0002278	"" []	206021	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2107
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002278	"" []	559121	\N	\N	EFO	2	EFO	cell line	NCI-H2107
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002278	"" []	559122	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2107
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002278	"" []	2024116	\N	\N	EFO	4	EFO	material entity	NCI-H2107
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002278	"" []	1141166	\N	\N	EFO	3	EFO	cell line	NCI-H2107
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002278	"" []	2999411	\N	\N	EFO	5	EFO	experimental factor	NCI-H2107
EFO:0002279	\N	\N	"" []	EFO:0002279	"" []	65146	\N	\N	EFO	0	EFO	NCI-H2122	NCI-H2122
EFO:0002888	EFO:0002279	\N	"" []	EFO:0002279	"" []	206022	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2122
EFO:0002934	EFO:0002279	\N	"" []	EFO:0002279	"" []	206023	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2122
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002279	"" []	559123	\N	\N	EFO	2	EFO	cell line	NCI-H2122
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002279	"" []	559124	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2122
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002279	"" []	2024118	\N	\N	EFO	4	EFO	material entity	NCI-H2122
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002279	"" []	1141168	\N	\N	EFO	3	EFO	cell line	NCI-H2122
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002279	"" []	2999412	\N	\N	EFO	5	EFO	experimental factor	NCI-H2122
EFO:0002280	\N	\N	"" []	EFO:0002280	"" []	65147	\N	\N	EFO	0	EFO	NCI-H2126	NCI-H2126
EFO:0002888	EFO:0002280	\N	"" []	EFO:0002280	"" []	206024	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2126
EFO:0002934	EFO:0002280	\N	"" []	EFO:0002280	"" []	206025	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2126
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002280	"" []	559125	\N	\N	EFO	2	EFO	cell line	NCI-H2126
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002280	"" []	559126	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2126
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002280	"" []	2024120	\N	\N	EFO	4	EFO	material entity	NCI-H2126
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002280	"" []	1141170	\N	\N	EFO	3	EFO	cell line	NCI-H2126
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002280	"" []	2999413	\N	\N	EFO	5	EFO	experimental factor	NCI-H2126
EFO:0002281	\N	\N	"" []	EFO:0002281	"" []	65148	\N	\N	EFO	0	EFO	NCI-H2170	NCI-H2170
EFO:0002888	EFO:0002281	\N	"" []	EFO:0002281	"" []	206026	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2170
EFO:0002934	EFO:0002281	\N	"" []	EFO:0002281	"" []	206027	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2170
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002281	"" []	559127	\N	\N	EFO	2	EFO	cell line	NCI-H2170
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002281	"" []	559128	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2170
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002281	"" []	2024122	\N	\N	EFO	4	EFO	material entity	NCI-H2170
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002281	"" []	1141172	\N	\N	EFO	3	EFO	cell line	NCI-H2170
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002281	"" []	2999414	\N	\N	EFO	5	EFO	experimental factor	NCI-H2170
EFO:0002282	\N	\N	"" []	EFO:0002282	"" []	65149	\N	\N	EFO	0	EFO	NCI-H2171	NCI-H2171
EFO:0002888	EFO:0002282	\N	"" []	EFO:0002282	"" []	206028	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2171
EFO:0002934	EFO:0002282	\N	"" []	EFO:0002282	"" []	206029	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2171
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002282	"" []	559129	\N	\N	EFO	2	EFO	cell line	NCI-H2171
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002282	"" []	559130	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2171
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002282	"" []	2024124	\N	\N	EFO	4	EFO	material entity	NCI-H2171
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002282	"" []	1141174	\N	\N	EFO	3	EFO	cell line	NCI-H2171
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002282	"" []	2999415	\N	\N	EFO	5	EFO	experimental factor	NCI-H2171
EFO:0002283	\N	\N	"" []	EFO:0002283	"" []	65150	\N	\N	EFO	0	EFO	NCI-H2195	NCI-H2195
EFO:0002888	EFO:0002283	\N	"" []	EFO:0002283	"" []	206030	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2195
EFO:0002934	EFO:0002283	\N	"" []	EFO:0002283	"" []	206031	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2195
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002283	"" []	559131	\N	\N	EFO	2	EFO	cell line	NCI-H2195
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002283	"" []	559132	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2195
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002283	"" []	2024126	\N	\N	EFO	4	EFO	material entity	NCI-H2195
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002283	"" []	1141176	\N	\N	EFO	3	EFO	cell line	NCI-H2195
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002283	"" []	2999416	\N	\N	EFO	5	EFO	experimental factor	NCI-H2195
EFO:0002284	\N	\N	"" []	EFO:0002284	"" []	65151	\N	\N	EFO	0	EFO	NCI-H2228	NCI-H2228
EFO:0002888	EFO:0002284	\N	"" []	EFO:0002284	"" []	206032	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2228
EFO:0002934	EFO:0002284	\N	"" []	EFO:0002284	"" []	206033	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2228
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002284	"" []	559133	\N	\N	EFO	2	EFO	cell line	NCI-H2228
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002284	"" []	559134	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2228
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002284	"" []	2024128	\N	\N	EFO	4	EFO	material entity	NCI-H2228
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002284	"" []	1141178	\N	\N	EFO	3	EFO	cell line	NCI-H2228
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002284	"" []	2999417	\N	\N	EFO	5	EFO	experimental factor	NCI-H2228
EFO:0002285	\N	\N	"" []	EFO:0002285	"" []	65152	\N	\N	EFO	0	EFO	NCI-H226	NCI-H226
EFO:0002888	EFO:0002285	\N	"" []	EFO:0002285	"" []	206034	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H226
EFO:0002934	EFO:0002285	\N	"" []	EFO:0002285	"" []	206035	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H226
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002285	"" []	559135	\N	\N	EFO	2	EFO	cell line	NCI-H226
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002285	"" []	559136	\N	\N	EFO	2	EFO	cancer cell line	NCI-H226
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002285	"" []	2024130	\N	\N	EFO	4	EFO	material entity	NCI-H226
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002285	"" []	1141180	\N	\N	EFO	3	EFO	cell line	NCI-H226
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002285	"" []	2999418	\N	\N	EFO	5	EFO	experimental factor	NCI-H226
EFO:0002286	\N	\N	"" []	EFO:0002286	"" []	65153	\N	\N	EFO	0	EFO	NCI-H23	NCI-H23
EFO:0002888	EFO:0002286	\N	"" []	EFO:0002286	"" []	206036	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H23
EFO:0002934	EFO:0002286	\N	"" []	EFO:0002286	"" []	206037	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H23
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002286	"" []	559137	\N	\N	EFO	2	EFO	cell line	NCI-H23
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002286	"" []	559138	\N	\N	EFO	2	EFO	cancer cell line	NCI-H23
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002286	"" []	2024132	\N	\N	EFO	4	EFO	material entity	NCI-H23
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002286	"" []	1141182	\N	\N	EFO	3	EFO	cell line	NCI-H23
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002286	"" []	2999419	\N	\N	EFO	5	EFO	experimental factor	NCI-H23
EFO:0002287	\N	\N	"" []	EFO:0002287	"" []	65154	\N	\N	EFO	0	EFO	NCI-H2347	NCI-H2347
EFO:0002888	EFO:0002287	\N	"" []	EFO:0002287	"" []	206038	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2347
EFO:0002934	EFO:0002287	\N	"" []	EFO:0002287	"" []	206039	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2347
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002287	"" []	559139	\N	\N	EFO	2	EFO	cell line	NCI-H2347
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002287	"" []	559140	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2347
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002287	"" []	2024134	\N	\N	EFO	4	EFO	material entity	NCI-H2347
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002287	"" []	1141184	\N	\N	EFO	3	EFO	cell line	NCI-H2347
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002287	"" []	2999420	\N	\N	EFO	5	EFO	experimental factor	NCI-H2347
EFO:0002288	\N	\N	"" []	EFO:0002288	"" []	65155	\N	\N	EFO	0	EFO	NCI-H2405	NCI-H2405
EFO:0002888	EFO:0002288	\N	"" []	EFO:0002288	"" []	206040	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2405
EFO:0002934	EFO:0002288	\N	"" []	EFO:0002288	"" []	206041	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2405
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002288	"" []	559141	\N	\N	EFO	2	EFO	cell line	NCI-H2405
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002288	"" []	559142	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2405
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002288	"" []	2024136	\N	\N	EFO	4	EFO	material entity	NCI-H2405
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002288	"" []	1141186	\N	\N	EFO	3	EFO	cell line	NCI-H2405
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002288	"" []	2999421	\N	\N	EFO	5	EFO	experimental factor	NCI-H2405
EFO:0002289	\N	\N	"" []	EFO:0002289	"" []	65156	\N	\N	EFO	0	EFO	NCI-H295R	NCI-H295R
EFO:0001639	EFO:0002289	\N	"" []	EFO:0002289	"" []	206042	\N	\N	EFO	1	EFO	cancer cell line	NCI-H295R
EFO:0002888	EFO:0002289	\N	"" []	EFO:0002289	"" []	206043	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H295R
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002289	"" []	559143	\N	\N	EFO	2	EFO	cell line	NCI-H295R
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002289	"" []	559144	\N	\N	EFO	2	EFO	cell line	NCI-H295R
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002289	"" []	1141187	\N	\N	EFO	3	EFO	material entity	NCI-H295R
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002289	"" []	2024137	\N	\N	EFO	4	EFO	experimental factor	NCI-H295R
EFO:0002291	\N	\N	"" []	EFO:0002291	"" []	65157	\N	\N	EFO	0	EFO	NCI-H358	NCI-H358
EFO:0002888	EFO:0002291	\N	"" []	EFO:0002291	"" []	206044	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H358
EFO:0002934	EFO:0002291	\N	"" []	EFO:0002291	"" []	206045	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H358
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002291	"" []	559145	\N	\N	EFO	2	EFO	cell line	NCI-H358
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002291	"" []	559146	\N	\N	EFO	2	EFO	cancer cell line	NCI-H358
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002291	"" []	2024139	\N	\N	EFO	4	EFO	material entity	NCI-H358
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002291	"" []	1141189	\N	\N	EFO	3	EFO	cell line	NCI-H358
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002291	"" []	2999422	\N	\N	EFO	5	EFO	experimental factor	NCI-H358
EFO:0002292	\N	\N	"" []	EFO:0002292	"" []	65158	\N	\N	EFO	0	EFO	NCI-H441	NCI-H441
EFO:0002888	EFO:0002292	\N	"" []	EFO:0002292	"" []	206046	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H441
EFO:0002934	EFO:0002292	\N	"" []	EFO:0002292	"" []	206047	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H441
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002292	"" []	559147	\N	\N	EFO	2	EFO	cell line	NCI-H441
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002292	"" []	559148	\N	\N	EFO	2	EFO	cancer cell line	NCI-H441
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002292	"" []	2024141	\N	\N	EFO	4	EFO	material entity	NCI-H441
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002292	"" []	1141191	\N	\N	EFO	3	EFO	cell line	NCI-H441
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002292	"" []	2999423	\N	\N	EFO	5	EFO	experimental factor	NCI-H441
EFO:0002293	\N	\N	"" []	EFO:0002293	"" []	65159	\N	\N	EFO	0	EFO	NCI-H446	NCI-H446
EFO:0002888	EFO:0002293	\N	"" []	EFO:0002293	"" []	206048	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H446
EFO:0002934	EFO:0002293	\N	"" []	EFO:0002293	"" []	206049	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H446
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002293	"" []	559149	\N	\N	EFO	2	EFO	cell line	NCI-H446
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002293	"" []	559150	\N	\N	EFO	2	EFO	cancer cell line	NCI-H446
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002293	"" []	2024143	\N	\N	EFO	4	EFO	material entity	NCI-H446
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002293	"" []	1141193	\N	\N	EFO	3	EFO	cell line	NCI-H446
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002293	"" []	2999424	\N	\N	EFO	5	EFO	experimental factor	NCI-H446
EFO:0002294	\N	\N	"" []	EFO:0002294	"" []	65160	\N	\N	EFO	0	EFO	NCI-H508	NCI-H508
BTO:0000797	\N	\N	"" []	EFO:0002294	"" []	194541	\N	\N	EFO	0	EFO	colonic cancer cell line	NCI-H508
EFO:0001639	EFO:0002294	\N	"" []	EFO:0002294	"" []	206050	\N	\N	EFO	1	EFO	cancer cell line	NCI-H508
EFO:0002888	EFO:0002294	\N	"" []	EFO:0002294	"" []	206051	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H508
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002294	"" []	559151	\N	\N	EFO	2	EFO	cell line	NCI-H508
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002294	"" []	559152	\N	\N	EFO	2	EFO	cell line	NCI-H508
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002294	"" []	1141194	\N	\N	EFO	3	EFO	material entity	NCI-H508
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002294	"" []	2024144	\N	\N	EFO	4	EFO	experimental factor	NCI-H508
EFO:0002295	\N	\N	"" []	EFO:0002295	"" []	65161	\N	\N	EFO	0	EFO	NCI-H522	NCI-H522
EFO:0002888	EFO:0002295	\N	"" []	EFO:0002295	"" []	206052	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H522
EFO:0002934	EFO:0002295	\N	"" []	EFO:0002295	"" []	206053	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H522
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002295	"" []	559153	\N	\N	EFO	2	EFO	cell line	NCI-H522
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002295	"" []	559154	\N	\N	EFO	2	EFO	cancer cell line	NCI-H522
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002295	"" []	2024146	\N	\N	EFO	4	EFO	material entity	NCI-H522
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002295	"" []	1141196	\N	\N	EFO	3	EFO	cell line	NCI-H522
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002295	"" []	2999425	\N	\N	EFO	5	EFO	experimental factor	NCI-H522
EFO:0002296	\N	\N	"" []	EFO:0002296	"" []	65162	\N	\N	EFO	0	EFO	NCI-H524	NCI-H524
EFO:0002888	EFO:0002296	\N	"" []	EFO:0002296	"" []	206054	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H524
EFO:0002934	EFO:0002296	\N	"" []	EFO:0002296	"" []	206055	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H524
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002296	"" []	559155	\N	\N	EFO	2	EFO	cell line	NCI-H524
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002296	"" []	559156	\N	\N	EFO	2	EFO	cancer cell line	NCI-H524
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002296	"" []	2024148	\N	\N	EFO	4	EFO	material entity	NCI-H524
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002296	"" []	1141198	\N	\N	EFO	3	EFO	cell line	NCI-H524
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002296	"" []	2999426	\N	\N	EFO	5	EFO	experimental factor	NCI-H524
EFO:0002297	\N	\N	"" []	EFO:0002297	"" []	65163	\N	\N	EFO	0	EFO	NCI-H630	NCI-H630
BTO:0000797	\N	\N	"" []	EFO:0002297	"" []	194542	\N	\N	EFO	0	EFO	colonic cancer cell line	NCI-H630
EFO:0001639	EFO:0002297	\N	"" []	EFO:0002297	"" []	206056	\N	\N	EFO	1	EFO	cancer cell line	NCI-H630
EFO:0002888	EFO:0002297	\N	"" []	EFO:0002297	"" []	206057	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H630
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002297	"" []	559157	\N	\N	EFO	2	EFO	cell line	NCI-H630
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002297	"" []	559158	\N	\N	EFO	2	EFO	cell line	NCI-H630
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002297	"" []	1141199	\N	\N	EFO	3	EFO	material entity	NCI-H630
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002297	"" []	2024149	\N	\N	EFO	4	EFO	experimental factor	NCI-H630
EFO:0002298	\N	\N	"" []	EFO:0002298	"" []	65164	\N	\N	EFO	0	EFO	NCI-H650	NCI-H650
EFO:0002888	EFO:0002298	\N	"" []	EFO:0002298	"" []	206058	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H650
EFO:0002934	EFO:0002298	\N	"" []	EFO:0002298	"" []	206059	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H650
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002298	"" []	559159	\N	\N	EFO	2	EFO	cell line	NCI-H650
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002298	"" []	559160	\N	\N	EFO	2	EFO	cancer cell line	NCI-H650
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002298	"" []	2024151	\N	\N	EFO	4	EFO	material entity	NCI-H650
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002298	"" []	1141201	\N	\N	EFO	3	EFO	cell line	NCI-H650
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002298	"" []	2999427	\N	\N	EFO	5	EFO	experimental factor	NCI-H650
EFO:0002299	\N	\N	"" []	EFO:0002299	"" []	65165	\N	\N	EFO	0	EFO	NCI-H661	NCI-H661
EFO:0002888	EFO:0002299	\N	"" []	EFO:0002299	"" []	206060	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H661
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002299	"" []	559161	\N	\N	EFO	2	EFO	cell line	NCI-H661
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002299	"" []	1141202	\N	\N	EFO	3	EFO	material entity	NCI-H661
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002299	"" []	2024152	\N	\N	EFO	4	EFO	experimental factor	NCI-H661
EFO:0002300	\N	\N	"Human Caucasian lung small cell carcinoma cell line." []	EFO:0002300	"Human Caucasian lung small cell carcinoma cell line." []	65166	\N	\N	EFO	0	EFO	NCI-H69	NCI-H69
EFO:0002888	EFO:0002300	\N	"" []	EFO:0002300	"Human Caucasian lung small cell carcinoma cell line." []	206061	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H69
EFO:0002934	EFO:0002300	\N	"" []	EFO:0002300	"Human Caucasian lung small cell carcinoma cell line." []	206062	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H69
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002300	"Human Caucasian lung small cell carcinoma cell line." []	559162	\N	\N	EFO	2	EFO	cell line	NCI-H69
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002300	"Human Caucasian lung small cell carcinoma cell line." []	559163	\N	\N	EFO	2	EFO	cancer cell line	NCI-H69
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002300	"Human Caucasian lung small cell carcinoma cell line." []	2024154	\N	\N	EFO	4	EFO	material entity	NCI-H69
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002300	"Human Caucasian lung small cell carcinoma cell line." []	1141204	\N	\N	EFO	3	EFO	cell line	NCI-H69
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002300	"Human Caucasian lung small cell carcinoma cell line." []	2999428	\N	\N	EFO	5	EFO	experimental factor	NCI-H69
EFO:0002301	\N	\N	"" []	EFO:0002301	"" []	65167	\N	\N	EFO	0	EFO	NCI-H716	NCI-H716
BTO:0000797	\N	\N	"" []	EFO:0002301	"" []	194543	\N	\N	EFO	0	EFO	colonic cancer cell line	NCI-H716
EFO:0001639	EFO:0002301	\N	"" []	EFO:0002301	"" []	206063	\N	\N	EFO	1	EFO	cancer cell line	NCI-H716
EFO:0002888	EFO:0002301	\N	"" []	EFO:0002301	"" []	206064	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H716
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002301	"" []	559164	\N	\N	EFO	2	EFO	cell line	NCI-H716
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002301	"" []	559165	\N	\N	EFO	2	EFO	cell line	NCI-H716
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002301	"" []	1141205	\N	\N	EFO	3	EFO	material entity	NCI-H716
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002301	"" []	2024155	\N	\N	EFO	4	EFO	experimental factor	NCI-H716
EFO:0002302	\N	\N	"" []	EFO:0002302	"" []	65168	\N	\N	EFO	0	EFO	NCI-H720	NCI-H720
EFO:0002888	EFO:0002302	\N	"" []	EFO:0002302	"" []	206065	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H720
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002302	"" []	559166	\N	\N	EFO	2	EFO	cell line	NCI-H720
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002302	"" []	1141206	\N	\N	EFO	3	EFO	material entity	NCI-H720
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002302	"" []	2024156	\N	\N	EFO	4	EFO	experimental factor	NCI-H720
EFO:0002303	\N	\N	"" []	EFO:0002303	"" []	65169	\N	\N	EFO	0	EFO	NCI-H747	NCI-H747
BTO:0000797	\N	\N	"" []	EFO:0002303	"" []	194544	\N	\N	EFO	0	EFO	colonic cancer cell line	NCI-H747
EFO:0001639	EFO:0002303	\N	"" []	EFO:0002303	"" []	206066	\N	\N	EFO	1	EFO	cancer cell line	NCI-H747
EFO:0002888	EFO:0002303	\N	"" []	EFO:0002303	"" []	206067	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H747
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002303	"" []	559167	\N	\N	EFO	2	EFO	cell line	NCI-H747
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002303	"" []	559168	\N	\N	EFO	2	EFO	cell line	NCI-H747
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002303	"" []	1141207	\N	\N	EFO	3	EFO	material entity	NCI-H747
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002303	"" []	2024157	\N	\N	EFO	4	EFO	experimental factor	NCI-H747
EFO:0002304	\N	\N	"" []	EFO:0002304	"" []	65170	\N	\N	EFO	0	EFO	NCI-H748	NCI-H748
EFO:0002888	EFO:0002304	\N	"" []	EFO:0002304	"" []	206068	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H748
EFO:0002934	EFO:0002304	\N	"" []	EFO:0002304	"" []	206069	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H748
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002304	"" []	559169	\N	\N	EFO	2	EFO	cell line	NCI-H748
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002304	"" []	559170	\N	\N	EFO	2	EFO	cancer cell line	NCI-H748
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002304	"" []	2024159	\N	\N	EFO	4	EFO	material entity	NCI-H748
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002304	"" []	1141209	\N	\N	EFO	3	EFO	cell line	NCI-H748
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002304	"" []	2999429	\N	\N	EFO	5	EFO	experimental factor	NCI-H748
EFO:0002305	\N	\N	"" []	EFO:0002305	"" []	65171	\N	\N	EFO	0	EFO	NCI-H810	NCI-H810
EFO:0002888	EFO:0002305	\N	"" []	EFO:0002305	"" []	206070	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H810
EFO:0002934	EFO:0002305	\N	"" []	EFO:0002305	"" []	206071	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H810
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002305	"" []	559171	\N	\N	EFO	2	EFO	cell line	NCI-H810
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002305	"" []	559172	\N	\N	EFO	2	EFO	cancer cell line	NCI-H810
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002305	"" []	2024161	\N	\N	EFO	4	EFO	material entity	NCI-H810
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002305	"" []	1141211	\N	\N	EFO	3	EFO	cell line	NCI-H810
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002305	"" []	2999430	\N	\N	EFO	5	EFO	experimental factor	NCI-H810
EFO:0002306	\N	\N	"" []	EFO:0002306	"" []	65172	\N	\N	EFO	0	EFO	NCI-H82	NCI-H82
EFO:0002888	EFO:0002306	\N	"" []	EFO:0002306	"" []	206072	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H82
EFO:0002934	EFO:0002306	\N	"" []	EFO:0002306	"" []	206073	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H82
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002306	"" []	559173	\N	\N	EFO	2	EFO	cell line	NCI-H82
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002306	"" []	559174	\N	\N	EFO	2	EFO	cancer cell line	NCI-H82
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002306	"" []	2024163	\N	\N	EFO	4	EFO	material entity	NCI-H82
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002306	"" []	1141213	\N	\N	EFO	3	EFO	cell line	NCI-H82
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002306	"" []	2999431	\N	\N	EFO	5	EFO	experimental factor	NCI-H82
EFO:0002307	\N	\N	"" []	EFO:0002307	"" []	65173	\N	\N	EFO	0	EFO	NCI-H838	NCI-H838
EFO:0002888	EFO:0002307	\N	"" []	EFO:0002307	"" []	206074	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H838
EFO:0002934	EFO:0002307	\N	"" []	EFO:0002307	"" []	206075	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H838
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002307	"" []	559175	\N	\N	EFO	2	EFO	cell line	NCI-H838
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002307	"" []	559176	\N	\N	EFO	2	EFO	cancer cell line	NCI-H838
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002307	"" []	2024165	\N	\N	EFO	4	EFO	material entity	NCI-H838
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002307	"" []	1141215	\N	\N	EFO	3	EFO	cell line	NCI-H838
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002307	"" []	2999432	\N	\N	EFO	5	EFO	experimental factor	NCI-H838
EFO:0002308	\N	\N	"" []	EFO:0002308	"" []	65174	\N	\N	EFO	0	EFO	OE19	OE19
EFO:0001639	EFO:0002308	\N	"" []	EFO:0002308	"" []	206076	\N	\N	EFO	1	EFO	cancer cell line	OE19
EFO:0002888	EFO:0002308	\N	"" []	EFO:0002308	"" []	206077	\N	\N	EFO	1	EFO	Homo sapiens cell line	OE19
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002308	"" []	559177	\N	\N	EFO	2	EFO	cell line	OE19
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002308	"" []	559178	\N	\N	EFO	2	EFO	cell line	OE19
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002308	"" []	1141216	\N	\N	EFO	3	EFO	material entity	OE19
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002308	"" []	2024166	\N	\N	EFO	4	EFO	experimental factor	OE19
EFO:0002309	\N	\N	"" []	EFO:0002309	"" []	65175	\N	\N	EFO	0	EFO	OE21	OE21
EFO:0001639	EFO:0002309	\N	"" []	EFO:0002309	"" []	206078	\N	\N	EFO	1	EFO	cancer cell line	OE21
EFO:0002888	EFO:0002309	\N	"" []	EFO:0002309	"" []	206079	\N	\N	EFO	1	EFO	Homo sapiens cell line	OE21
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002309	"" []	559179	\N	\N	EFO	2	EFO	cell line	OE21
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002309	"" []	559180	\N	\N	EFO	2	EFO	cell line	OE21
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002309	"" []	1141217	\N	\N	EFO	3	EFO	material entity	OE21
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002309	"" []	2024167	\N	\N	EFO	4	EFO	experimental factor	OE21
EFO:0002310	\N	\N	"" []	EFO:0002310	"" []	65176	\N	\N	EFO	0	EFO	OE33	OE33
EFO:0001639	EFO:0002310	\N	"" []	EFO:0002310	"" []	206080	\N	\N	EFO	1	EFO	cancer cell line	OE33
EFO:0002888	EFO:0002310	\N	"" []	EFO:0002310	"" []	206081	\N	\N	EFO	1	EFO	Homo sapiens cell line	OE33
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002310	"" []	559181	\N	\N	EFO	2	EFO	cell line	OE33
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002310	"" []	559182	\N	\N	EFO	2	EFO	cell line	OE33
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002310	"" []	1141218	\N	\N	EFO	3	EFO	material entity	OE33
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002310	"" []	2024168	\N	\N	EFO	4	EFO	experimental factor	OE33
EFO:0002311	\N	\N	"" []	EFO:0002311	"" []	65177	\N	\N	EFO	0	EFO	OV90	OV90
EFO:0002394	EFO:0002311	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0002311	"" []	206082	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OV90
EFO:0002888	EFO:0002311	\N	"" []	EFO:0002311	"" []	206083	\N	\N	EFO	1	EFO	Homo sapiens cell line	OV90
EFO:0001639	EFO:0002394	\N	"" []	EFO:0002311	"" []	559183	\N	\N	EFO	2	EFO	cancer cell line	OV90
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002311	"" []	559184	\N	\N	EFO	2	EFO	cell line	OV90
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002311	"" []	1141219	\N	\N	EFO	3	EFO	cell line	OV90
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002311	"" []	2024169	\N	\N	EFO	4	EFO	material entity	OV90
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002311	"" []	2999433	\N	\N	EFO	5	EFO	experimental factor	OV90
EFO:0002312	\N	\N	"" []	EFO:0002312	"" []	65178	\N	\N	EFO	0	EFO	P3HR1	P3HR1
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002312	"" []	194545	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	P3HR1
EFO:0002888	EFO:0002312	\N	"" []	EFO:0002312	"" []	206084	\N	\N	EFO	1	EFO	Homo sapiens cell line	P3HR1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002312	"" []	559185	\N	\N	EFO	2	EFO	cell line	P3HR1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002312	"" []	1141221	\N	\N	EFO	3	EFO	material entity	P3HR1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002312	"" []	2024171	\N	\N	EFO	4	EFO	experimental factor	P3HR1
EFO:0002313	\N	\N	"" []	EFO:0002313	"" []	65179	\N	\N	EFO	0	EFO	PLB985	PLB985
EFO:0002888	EFO:0002313	\N	"" []	EFO:0002313	"" []	206085	\N	\N	EFO	1	EFO	Homo sapiens cell line	PLB985
EFO:0002937	EFO:0002313	\N	"" []	EFO:0002313	"" []	206086	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	PLB985
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002313	"" []	559186	\N	\N	EFO	2	EFO	cell line	PLB985
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002313	"" []	559187	\N	\N	EFO	2	EFO	cancer cell line	PLB985
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002313	"" []	2024173	\N	\N	EFO	4	EFO	material entity	PLB985
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002313	"" []	1141223	\N	\N	EFO	3	EFO	cell line	PLB985
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002313	"" []	2999434	\N	\N	EFO	5	EFO	experimental factor	PLB985
EFO:0002314	\N	\N	"" []	EFO:0002314	"" []	65180	\N	\N	EFO	0	EFO	RCHACV	RCHACV
EFO:0001639	EFO:0002314	\N	"" []	EFO:0002314	"" []	206087	\N	\N	EFO	1	EFO	cancer cell line	RCHACV
EFO:0002888	EFO:0002314	\N	"" []	EFO:0002314	"" []	206088	\N	\N	EFO	1	EFO	Homo sapiens cell line	RCHACV
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002314	"" []	559188	\N	\N	EFO	2	EFO	cell line	RCHACV
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002314	"" []	559189	\N	\N	EFO	2	EFO	cell line	RCHACV
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002314	"" []	1141224	\N	\N	EFO	3	EFO	material entity	RCHACV
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002314	"" []	2024174	\N	\N	EFO	4	EFO	experimental factor	RCHACV
EFO:0002315	\N	\N	"" []	EFO:0002315	"" []	65181	\N	\N	EFO	0	EFO	RD	RD
EFO:0001639	EFO:0002315	\N	"" []	EFO:0002315	"" []	206089	\N	\N	EFO	1	EFO	cancer cell line	RD
EFO:0002888	EFO:0002315	\N	"" []	EFO:0002315	"" []	206090	\N	\N	EFO	1	EFO	Homo sapiens cell line	RD
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002315	"" []	559190	\N	\N	EFO	2	EFO	cell line	RD
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002315	"" []	559191	\N	\N	EFO	2	EFO	cell line	RD
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002315	"" []	1141225	\N	\N	EFO	3	EFO	material entity	RD
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002315	"" []	2024175	\N	\N	EFO	4	EFO	experimental factor	RD
EFO:0002316	\N	\N	"" []	EFO:0002316	"" []	65182	\N	\N	EFO	0	EFO	RDES	RDES
EFO:0001639	EFO:0002316	\N	"" []	EFO:0002316	"" []	206091	\N	\N	EFO	1	EFO	cancer cell line	RDES
EFO:0002888	EFO:0002316	\N	"" []	EFO:0002316	"" []	206092	\N	\N	EFO	1	EFO	Homo sapiens cell line	RDES
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002316	"" []	559192	\N	\N	EFO	2	EFO	cell line	RDES
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002316	"" []	559193	\N	\N	EFO	2	EFO	cell line	RDES
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002316	"" []	1141226	\N	\N	EFO	3	EFO	material entity	RDES
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002316	"" []	2024176	\N	\N	EFO	4	EFO	experimental factor	RDES
EFO:0002317	\N	\N	"" []	EFO:0002317	"" []	65183	\N	\N	EFO	0	EFO	REC1	REC1
EFO:0001639	EFO:0002317	\N	"" []	EFO:0002317	"" []	206093	\N	\N	EFO	1	EFO	cancer cell line	REC1
EFO:0002888	EFO:0002317	\N	"" []	EFO:0002317	"" []	206094	\N	\N	EFO	1	EFO	Homo sapiens cell line	REC1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002317	"" []	559194	\N	\N	EFO	2	EFO	cell line	REC1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002317	"" []	559195	\N	\N	EFO	2	EFO	cell line	REC1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002317	"" []	1141227	\N	\N	EFO	3	EFO	material entity	REC1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002317	"" []	2024177	\N	\N	EFO	4	EFO	experimental factor	REC1
EFO:0002318	\N	\N	"" []	EFO:0002318	"" []	65184	\N	\N	EFO	0	EFO	RKOE6	RKOE6
BTO:0000797	\N	\N	"" []	EFO:0002318	"" []	194546	\N	\N	EFO	0	EFO	colonic cancer cell line	RKOE6
EFO:0001639	EFO:0002318	\N	"" []	EFO:0002318	"" []	206095	\N	\N	EFO	1	EFO	cancer cell line	RKOE6
EFO:0002888	EFO:0002318	\N	"" []	EFO:0002318	"" []	206096	\N	\N	EFO	1	EFO	Homo sapiens cell line	RKOE6
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002318	"" []	559196	\N	\N	EFO	2	EFO	cell line	RKOE6
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002318	"" []	559197	\N	\N	EFO	2	EFO	cell line	RKOE6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002318	"" []	1141228	\N	\N	EFO	3	EFO	material entity	RKOE6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002318	"" []	2024178	\N	\N	EFO	4	EFO	experimental factor	RKOE6
EFO:0002319	\N	\N	"" []	EFO:0002319	"" []	65185	\N	\N	EFO	0	EFO	RL	RL
EFO:0002888	EFO:0002319	\N	"" []	EFO:0002319	"" []	206097	\N	\N	EFO	1	EFO	Homo sapiens cell line	RL
EFO:0002937	EFO:0002319	\N	"" []	EFO:0002319	"" []	206098	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	RL
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002319	"" []	559198	\N	\N	EFO	2	EFO	cell line	RL
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002319	"" []	559199	\N	\N	EFO	2	EFO	cancer cell line	RL
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002319	"" []	2024180	\N	\N	EFO	4	EFO	material entity	RL
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002319	"" []	1141230	\N	\N	EFO	3	EFO	cell line	RL
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002319	"" []	2999435	\N	\N	EFO	5	EFO	experimental factor	RL
EFO:0002320	\N	\N	"" []	EFO:0002320	"" []	65186	\N	\N	EFO	0	EFO	RL952	RL952
EFO:0001639	EFO:0002320	\N	"" []	EFO:0002320	"" []	206099	\N	\N	EFO	1	EFO	cancer cell line	RL952
EFO:0002888	EFO:0002320	\N	"" []	EFO:0002320	"" []	206100	\N	\N	EFO	1	EFO	Homo sapiens cell line	RL952
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002320	"" []	559200	\N	\N	EFO	2	EFO	cell line	RL952
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002320	"" []	559201	\N	\N	EFO	2	EFO	cell line	RL952
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002320	"" []	1141231	\N	\N	EFO	3	EFO	material entity	RL952
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002320	"" []	2024181	\N	\N	EFO	4	EFO	experimental factor	RL952
EFO:0002321	\N	\N	"" []	EFO:0002321	"" []	65187	\N	\N	EFO	0	EFO	RPMI6666	RPMI6666
EFO:0002888	EFO:0002321	\N	"" []	EFO:0002321	"" []	206101	\N	\N	EFO	1	EFO	Homo sapiens cell line	RPMI6666
EFO:0002937	EFO:0002321	\N	"" []	EFO:0002321	"" []	206102	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	RPMI6666
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002321	"" []	559202	\N	\N	EFO	2	EFO	cell line	RPMI6666
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002321	"" []	559203	\N	\N	EFO	2	EFO	cancer cell line	RPMI6666
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002321	"" []	2024183	\N	\N	EFO	4	EFO	material entity	RPMI6666
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002321	"" []	1141233	\N	\N	EFO	3	EFO	cell line	RPMI6666
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002321	"" []	2999436	\N	\N	EFO	5	EFO	experimental factor	RPMI6666
EFO:0002322	\N	\N	"" []	EFO:0002322	"" []	65188	\N	\N	EFO	0	EFO	RPMI8226	RPMI8226
EFO:0001639	EFO:0002322	\N	"" []	EFO:0002322	"" []	206103	\N	\N	EFO	1	EFO	cancer cell line	RPMI8226
EFO:0002888	EFO:0002322	\N	"" []	EFO:0002322	"" []	206104	\N	\N	EFO	1	EFO	Homo sapiens cell line	RPMI8226
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002322	"" []	559204	\N	\N	EFO	2	EFO	cell line	RPMI8226
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002322	"" []	559205	\N	\N	EFO	2	EFO	cell line	RPMI8226
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002322	"" []	1141234	\N	\N	EFO	3	EFO	material entity	RPMI8226
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002322	"" []	2024184	\N	\N	EFO	4	EFO	experimental factor	RPMI8226
EFO:0002323	\N	\N	"Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." []	EFO:0002323	"Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." []	65189	\N	\N	EFO	0	EFO	RWPE1	RWPE1
EFO:0001641	EFO:0002323	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002323	"Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." []	206105	\N	\N	EFO	1	EFO	epithelial cell derived cell line	RWPE1
EFO:0002888	EFO:0002323	\N	"" []	EFO:0002323	"Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." []	206106	\N	\N	EFO	1	EFO	Homo sapiens cell line	RWPE1
EFO:0002891	EFO:0002323	\N	"Any cell line that is derived from the prostate." []	EFO:0002323	"Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." []	206107	\N	\N	EFO	1	EFO	prostate derived cell line	RWPE1
EFO:0002922	EFO:0002323	\N	"" []	EFO:0002323	"Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." []	206108	\N	\N	EFO	1	EFO	normal cell line	RWPE1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002323	"Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." []	559206	\N	\N	EFO	2	EFO	cell line	RWPE1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002323	"Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." []	559207	\N	\N	EFO	2	EFO	cell line	RWPE1
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002323	"Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." []	559208	\N	\N	EFO	2	EFO	cell line	RWPE1
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002323	"Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." []	559209	\N	\N	EFO	2	EFO	cell line	RWPE1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002323	"Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." []	1141235	\N	\N	EFO	3	EFO	material entity	RWPE1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002323	"Epithelial cells derived from the peripheral zone of a histologically normal adult human prostate were transfected with a single copy of the human papilloma virus 18 (HPV-18) to establish the RWPE-1 (ATCC CRL-11609) cell line. [PMID:9214605]." []	2024185	\N	\N	EFO	4	EFO	experimental factor	RWPE1
EFO:0002324	\N	\N	"" []	EFO:0002324	"" []	65190	\N	\N	EFO	0	EFO	Raji	Raji
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002324	"" []	194547	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	Raji
EFO:0002888	EFO:0002324	\N	"" []	EFO:0002324	"" []	206109	\N	\N	EFO	1	EFO	Homo sapiens cell line	Raji
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002324	"" []	559210	\N	\N	EFO	2	EFO	cell line	Raji
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002324	"" []	1141236	\N	\N	EFO	3	EFO	material entity	Raji
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002324	"" []	2024186	\N	\N	EFO	4	EFO	experimental factor	Raji
EFO:0002325	\N	\N	"" []	EFO:0002325	"" []	65191	\N	\N	EFO	0	EFO	SCaBER	SCaBER
EFO:0001639	EFO:0002325	\N	"" []	EFO:0002325	"" []	206110	\N	\N	EFO	1	EFO	cancer cell line	SCaBER
EFO:0002888	EFO:0002325	\N	"" []	EFO:0002325	"" []	206111	\N	\N	EFO	1	EFO	Homo sapiens cell line	SCaBER
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002325	"" []	559211	\N	\N	EFO	2	EFO	cell line	SCaBER
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002325	"" []	559212	\N	\N	EFO	2	EFO	cell line	SCaBER
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002325	"" []	1141237	\N	\N	EFO	3	EFO	material entity	SCaBER
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002325	"" []	2024187	\N	\N	EFO	4	EFO	experimental factor	SCaBER
EFO:0002326	\N	\N	"" []	EFO:0002326	"" []	65192	\N	\N	EFO	0	EFO	SEM	SEM
EFO:0001639	EFO:0002326	\N	"" []	EFO:0002326	"" []	206112	\N	\N	EFO	1	EFO	cancer cell line	SEM
EFO:0002888	EFO:0002326	\N	"" []	EFO:0002326	"" []	206113	\N	\N	EFO	1	EFO	Homo sapiens cell line	SEM
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002326	"" []	559213	\N	\N	EFO	2	EFO	cell line	SEM
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002326	"" []	559214	\N	\N	EFO	2	EFO	cell line	SEM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002326	"" []	1141238	\N	\N	EFO	3	EFO	material entity	SEM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002326	"" []	2024188	\N	\N	EFO	4	EFO	experimental factor	SEM
EFO:0002327	\N	\N	"" []	EFO:0002327	"" []	65193	\N	\N	EFO	0	EFO	SH4	SH4
BTO:0000849	EFO:0002327	\N	"" []	EFO:0002327	"" []	206114	\N	\N	EFO	1	EFO	melanoma cell line	SH4
EFO:0002888	EFO:0002327	\N	"" []	EFO:0002327	"" []	206115	\N	\N	EFO	1	EFO	Homo sapiens cell line	SH4
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002327	"" []	559215	\N	\N	EFO	2	EFO	cancer cell line	SH4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002327	"" []	559216	\N	\N	EFO	2	EFO	cell line	SH4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002327	"" []	1141239	\N	\N	EFO	3	EFO	cell line	SH4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002327	"" []	2024189	\N	\N	EFO	4	EFO	material entity	SH4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002327	"" []	2999437	\N	\N	EFO	5	EFO	experimental factor	SH4
EFO:0002328	\N	\N	"" []	EFO:0002328	"" []	65194	\N	\N	EFO	0	EFO	SHP77	SHP77
EFO:0002888	EFO:0002328	\N	"" []	EFO:0002328	"" []	206116	\N	\N	EFO	1	EFO	Homo sapiens cell line	SHP77
EFO:0002934	EFO:0002328	\N	"" []	EFO:0002328	"" []	206117	\N	\N	EFO	1	EFO	lung cancer cell line	SHP77
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002328	"" []	559217	\N	\N	EFO	2	EFO	cell line	SHP77
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002328	"" []	559218	\N	\N	EFO	2	EFO	cancer cell line	SHP77
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002328	"" []	2024192	\N	\N	EFO	4	EFO	material entity	SHP77
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002328	"" []	1141242	\N	\N	EFO	3	EFO	cell line	SHP77
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002328	"" []	2999438	\N	\N	EFO	5	EFO	experimental factor	SHP77
EFO:0002329	\N	\N	"" []	EFO:0002329	"" []	65195	\N	\N	EFO	0	EFO	SJRH30	SJRH30
EFO:0001639	EFO:0002329	\N	"" []	EFO:0002329	"" []	206118	\N	\N	EFO	1	EFO	cancer cell line	SJRH30
EFO:0002888	EFO:0002329	\N	"" []	EFO:0002329	"" []	206119	\N	\N	EFO	1	EFO	Homo sapiens cell line	SJRH30
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002329	"" []	559219	\N	\N	EFO	2	EFO	cell line	SJRH30
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002329	"" []	559220	\N	\N	EFO	2	EFO	cell line	SJRH30
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002329	"" []	1141243	\N	\N	EFO	3	EFO	material entity	SJRH30
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002329	"" []	2024193	\N	\N	EFO	4	EFO	experimental factor	SJRH30
EFO:0002330	\N	\N	"" []	EFO:0002330	"" []	65196	\N	\N	EFO	0	EFO	SJSA1	SJSA1
EFO:0001639	EFO:0002330	\N	"" []	EFO:0002330	"" []	206120	\N	\N	EFO	1	EFO	cancer cell line	SJSA1
EFO:0002888	EFO:0002330	\N	"" []	EFO:0002330	"" []	206121	\N	\N	EFO	1	EFO	Homo sapiens cell line	SJSA1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002330	"" []	559221	\N	\N	EFO	2	EFO	cell line	SJSA1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002330	"" []	559222	\N	\N	EFO	2	EFO	cell line	SJSA1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002330	"" []	1141244	\N	\N	EFO	3	EFO	material entity	SJSA1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002330	"" []	2024194	\N	\N	EFO	4	EFO	experimental factor	SJSA1
EFO:0002331	\N	\N	"" []	EFO:0002331	"" []	65197	\N	\N	EFO	0	EFO	SKLMS1	SKLMS1
EFO:0001639	EFO:0002331	\N	"" []	EFO:0002331	"" []	206122	\N	\N	EFO	1	EFO	cancer cell line	SKLMS1
EFO:0002888	EFO:0002331	\N	"" []	EFO:0002331	"" []	206123	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKLMS1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002331	"" []	559223	\N	\N	EFO	2	EFO	cell line	SKLMS1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002331	"" []	559224	\N	\N	EFO	2	EFO	cell line	SKLMS1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002331	"" []	1141245	\N	\N	EFO	3	EFO	material entity	SKLMS1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002331	"" []	2024195	\N	\N	EFO	4	EFO	experimental factor	SKLMS1
EFO:0002332	\N	\N	"" []	EFO:0002332	"" []	65198	\N	\N	EFO	0	EFO	SKMEL1	SKMEL1
BTO:0000849	EFO:0002332	\N	"" []	EFO:0002332	"" []	206124	\N	\N	EFO	1	EFO	melanoma cell line	SKMEL1
EFO:0002888	EFO:0002332	\N	"" []	EFO:0002332	"" []	206125	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKMEL1
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002332	"" []	559225	\N	\N	EFO	2	EFO	cancer cell line	SKMEL1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002332	"" []	559226	\N	\N	EFO	2	EFO	cell line	SKMEL1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002332	"" []	1141246	\N	\N	EFO	3	EFO	cell line	SKMEL1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002332	"" []	2024196	\N	\N	EFO	4	EFO	material entity	SKMEL1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002332	"" []	2999439	\N	\N	EFO	5	EFO	experimental factor	SKMEL1
EFO:0002333	\N	\N	"" []	EFO:0002333	"" []	65199	\N	\N	EFO	0	EFO	SKMEL3	SKMEL3
BTO:0000849	EFO:0002333	\N	"" []	EFO:0002333	"" []	206126	\N	\N	EFO	1	EFO	melanoma cell line	SKMEL3
EFO:0002888	EFO:0002333	\N	"" []	EFO:0002333	"" []	206127	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKMEL3
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002333	"" []	559227	\N	\N	EFO	2	EFO	cancer cell line	SKMEL3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002333	"" []	559228	\N	\N	EFO	2	EFO	cell line	SKMEL3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002333	"" []	1141248	\N	\N	EFO	3	EFO	cell line	SKMEL3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002333	"" []	2024198	\N	\N	EFO	4	EFO	material entity	SKMEL3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002333	"" []	2999440	\N	\N	EFO	5	EFO	experimental factor	SKMEL3
EFO:0002334	\N	\N	"" []	EFO:0002334	"" []	65200	\N	\N	EFO	0	EFO	SKMES1	SKMES1
EFO:0001639	EFO:0002334	\N	"" []	EFO:0002334	"" []	206128	\N	\N	EFO	1	EFO	cancer cell line	SKMES1
EFO:0002888	EFO:0002334	\N	"" []	EFO:0002334	"" []	206129	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKMES1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002334	"" []	559229	\N	\N	EFO	2	EFO	cell line	SKMES1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002334	"" []	559230	\N	\N	EFO	2	EFO	cell line	SKMES1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002334	"" []	1141250	\N	\N	EFO	3	EFO	material entity	SKMES1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002334	"" []	2024200	\N	\N	EFO	4	EFO	experimental factor	SKMES1
EFO:0002337	\N	\N	"SKNEP1 is a human kidney cell line derived from a patient with Nephroblastoma." []	EFO:0002337	"SKNEP1 is a human kidney cell line derived from a patient with Nephroblastoma." []	65201	\N	\N	EFO	0	EFO	SKNEP1	SKNEP1
EFO:0001643	EFO:0002337	\N	"" []	EFO:0002337	"SKNEP1 is a human kidney cell line derived from a patient with Nephroblastoma." []	206130	\N	\N	EFO	1	EFO	kidney derived cell line	SKNEP1
EFO:0002888	EFO:0002337	\N	"" []	EFO:0002337	"SKNEP1 is a human kidney cell line derived from a patient with Nephroblastoma." []	206131	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKNEP1
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002337	"SKNEP1 is a human kidney cell line derived from a patient with Nephroblastoma." []	559231	\N	\N	EFO	2	EFO	cell line	SKNEP1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002337	"SKNEP1 is a human kidney cell line derived from a patient with Nephroblastoma." []	559232	\N	\N	EFO	2	EFO	cell line	SKNEP1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002337	"SKNEP1 is a human kidney cell line derived from a patient with Nephroblastoma." []	1141251	\N	\N	EFO	3	EFO	material entity	SKNEP1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002337	"SKNEP1 is a human kidney cell line derived from a patient with Nephroblastoma." []	2024201	\N	\N	EFO	4	EFO	experimental factor	SKNEP1
EFO:0002338	\N	\N	"" []	EFO:0002338	"" []	65202	\N	\N	EFO	0	EFO	SKNFI	SKNFI
EFO:0002888	EFO:0002338	\N	"" []	EFO:0002338	"" []	206132	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKNFI
EFO:0005214	EFO:0002338	\N	"A cell line which is a model for neuroblastoma." []	EFO:0002338	"" []	206133	\N	\N	EFO	1	EFO	neuroblastoma cell line	SKNFI
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002338	"" []	559233	\N	\N	EFO	2	EFO	cell line	SKNFI
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002338	"" []	559234	\N	\N	EFO	2	EFO	cell line	SKNFI
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002338	"" []	1141252	\N	\N	EFO	3	EFO	material entity	SKNFI
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002338	"" []	2024202	\N	\N	EFO	4	EFO	experimental factor	SKNFI
EFO:0002339	\N	\N	"" []	EFO:0002339	"" []	65203	\N	\N	EFO	0	EFO	SKO007	SKO007
EFO:0001639	EFO:0002339	\N	"" []	EFO:0002339	"" []	206134	\N	\N	EFO	1	EFO	cancer cell line	SKO007
EFO:0002888	EFO:0002339	\N	"" []	EFO:0002339	"" []	206135	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKO007
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002339	"" []	559235	\N	\N	EFO	2	EFO	cell line	SKO007
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002339	"" []	559236	\N	\N	EFO	2	EFO	cell line	SKO007
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002339	"" []	1141253	\N	\N	EFO	3	EFO	material entity	SKO007
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002339	"" []	2024203	\N	\N	EFO	4	EFO	experimental factor	SKO007
EFO:0002340	\N	\N	"" []	EFO:0002340	"" []	65204	\N	\N	EFO	0	EFO	SKOV3	SKOV3
EFO:0002394	EFO:0002340	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0002340	"" []	206136	\N	\N	EFO	1	EFO	ovarian cancer cell lines	SKOV3
EFO:0002888	EFO:0002340	\N	"" []	EFO:0002340	"" []	206137	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKOV3
EFO:0001639	EFO:0002394	\N	"" []	EFO:0002340	"" []	559237	\N	\N	EFO	2	EFO	cancer cell line	SKOV3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002340	"" []	559238	\N	\N	EFO	2	EFO	cell line	SKOV3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002340	"" []	1141254	\N	\N	EFO	3	EFO	cell line	SKOV3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002340	"" []	2024204	\N	\N	EFO	4	EFO	material entity	SKOV3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002340	"" []	2999441	\N	\N	EFO	5	EFO	experimental factor	SKOV3
EFO:0002341	\N	\N	"" []	EFO:0002341	"" []	65205	\N	\N	EFO	0	EFO	SKUT1	SKUT1
EFO:0001639	EFO:0002341	\N	"" []	EFO:0002341	"" []	206138	\N	\N	EFO	1	EFO	cancer cell line	SKUT1
EFO:0002888	EFO:0002341	\N	"" []	EFO:0002341	"" []	206139	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKUT1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002341	"" []	559239	\N	\N	EFO	2	EFO	cell line	SKUT1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002341	"" []	559240	\N	\N	EFO	2	EFO	cell line	SKUT1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002341	"" []	1141256	\N	\N	EFO	3	EFO	material entity	SKUT1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002341	"" []	2024206	\N	\N	EFO	4	EFO	experimental factor	SKUT1
EFO:0002342	\N	\N	"" []	EFO:0002342	"" []	65206	\N	\N	EFO	0	EFO	SNB19	SNB19
EFO:0001639	EFO:0002342	\N	"" []	EFO:0002342	"" []	206140	\N	\N	EFO	1	EFO	cancer cell line	SNB19
EFO:0002888	EFO:0002342	\N	"" []	EFO:0002342	"" []	206141	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNB19
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002342	"" []	559241	\N	\N	EFO	2	EFO	cell line	SNB19
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002342	"" []	559242	\N	\N	EFO	2	EFO	cell line	SNB19
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002342	"" []	1141257	\N	\N	EFO	3	EFO	material entity	SNB19
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002342	"" []	2024207	\N	\N	EFO	4	EFO	experimental factor	SNB19
EFO:0002343	\N	\N	"" []	EFO:0002343	"" []	65207	\N	\N	EFO	0	EFO	SNU1	SNU1
EFO:0001639	EFO:0002343	\N	"" []	EFO:0002343	"" []	206142	\N	\N	EFO	1	EFO	cancer cell line	SNU1
EFO:0002888	EFO:0002343	\N	"" []	EFO:0002343	"" []	206143	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002343	"" []	559243	\N	\N	EFO	2	EFO	cell line	SNU1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002343	"" []	559244	\N	\N	EFO	2	EFO	cell line	SNU1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002343	"" []	1141258	\N	\N	EFO	3	EFO	material entity	SNU1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002343	"" []	2024208	\N	\N	EFO	4	EFO	experimental factor	SNU1
EFO:0002344	\N	\N	"" []	EFO:0002344	"" []	65208	\N	\N	EFO	0	EFO	SNU16	SNU16
EFO:0001639	EFO:0002344	\N	"" []	EFO:0002344	"" []	206144	\N	\N	EFO	1	EFO	cancer cell line	SNU16
EFO:0002888	EFO:0002344	\N	"" []	EFO:0002344	"" []	206145	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU16
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002344	"" []	559245	\N	\N	EFO	2	EFO	cell line	SNU16
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002344	"" []	559246	\N	\N	EFO	2	EFO	cell line	SNU16
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002344	"" []	1141259	\N	\N	EFO	3	EFO	material entity	SNU16
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002344	"" []	2024209	\N	\N	EFO	4	EFO	experimental factor	SNU16
EFO:0002345	\N	\N	"" []	EFO:0002345	"" []	65209	\N	\N	EFO	0	EFO	SNU182	SNU182
EFO:0002888	EFO:0002345	\N	"" []	EFO:0002345	"" []	206146	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU182
EFO:0005216	EFO:0002345	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0002345	"" []	206147	\N	\N	EFO	1	EFO	hepatoma cell line	SNU182
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002345	"" []	559247	\N	\N	EFO	2	EFO	cell line	SNU182
EFO:0001639	EFO:0005216	\N	"" []	EFO:0002345	"" []	559248	\N	\N	EFO	2	EFO	cancer cell line	SNU182
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002345	"" []	2024211	\N	\N	EFO	4	EFO	material entity	SNU182
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002345	"" []	1141261	\N	\N	EFO	3	EFO	cell line	SNU182
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002345	"" []	2999442	\N	\N	EFO	5	EFO	experimental factor	SNU182
EFO:0002346	\N	\N	"" []	EFO:0002346	"" []	65210	\N	\N	EFO	0	EFO	SNU387	SNU387
EFO:0002888	EFO:0002346	\N	"" []	EFO:0002346	"" []	206148	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU387
EFO:0005216	EFO:0002346	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0002346	"" []	206149	\N	\N	EFO	1	EFO	hepatoma cell line	SNU387
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002346	"" []	559249	\N	\N	EFO	2	EFO	cell line	SNU387
EFO:0001639	EFO:0005216	\N	"" []	EFO:0002346	"" []	559250	\N	\N	EFO	2	EFO	cancer cell line	SNU387
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002346	"" []	2024213	\N	\N	EFO	4	EFO	material entity	SNU387
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002346	"" []	1141263	\N	\N	EFO	3	EFO	cell line	SNU387
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002346	"" []	2999443	\N	\N	EFO	5	EFO	experimental factor	SNU387
EFO:0002347	\N	\N	"" []	EFO:0002347	"" []	65211	\N	\N	EFO	0	EFO	SNU398	SNU398
EFO:0002888	EFO:0002347	\N	"" []	EFO:0002347	"" []	206150	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU398
EFO:0005216	EFO:0002347	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0002347	"" []	206151	\N	\N	EFO	1	EFO	hepatoma cell line	SNU398
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002347	"" []	559251	\N	\N	EFO	2	EFO	cell line	SNU398
EFO:0001639	EFO:0005216	\N	"" []	EFO:0002347	"" []	559252	\N	\N	EFO	2	EFO	cancer cell line	SNU398
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002347	"" []	2024215	\N	\N	EFO	4	EFO	material entity	SNU398
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002347	"" []	1141265	\N	\N	EFO	3	EFO	cell line	SNU398
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002347	"" []	2999444	\N	\N	EFO	5	EFO	experimental factor	SNU398
EFO:0002348	\N	\N	"" []	EFO:0002348	"" []	65212	\N	\N	EFO	0	EFO	SNU423	SNU423
EFO:0002888	EFO:0002348	\N	"" []	EFO:0002348	"" []	206152	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU423
EFO:0005216	EFO:0002348	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0002348	"" []	206153	\N	\N	EFO	1	EFO	hepatoma cell line	SNU423
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002348	"" []	559253	\N	\N	EFO	2	EFO	cell line	SNU423
EFO:0001639	EFO:0005216	\N	"" []	EFO:0002348	"" []	559254	\N	\N	EFO	2	EFO	cancer cell line	SNU423
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002348	"" []	2024217	\N	\N	EFO	4	EFO	material entity	SNU423
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002348	"" []	1141267	\N	\N	EFO	3	EFO	cell line	SNU423
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002348	"" []	2999445	\N	\N	EFO	5	EFO	experimental factor	SNU423
EFO:0002349	\N	\N	"" []	EFO:0002349	"" []	65213	\N	\N	EFO	0	EFO	SNU449	SNU449
EFO:0002888	EFO:0002349	\N	"" []	EFO:0002349	"" []	206154	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU449
EFO:0005216	EFO:0002349	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0002349	"" []	206155	\N	\N	EFO	1	EFO	hepatoma cell line	SNU449
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002349	"" []	559255	\N	\N	EFO	2	EFO	cell line	SNU449
EFO:0001639	EFO:0005216	\N	"" []	EFO:0002349	"" []	559256	\N	\N	EFO	2	EFO	cancer cell line	SNU449
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002349	"" []	2024219	\N	\N	EFO	4	EFO	material entity	SNU449
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002349	"" []	1141269	\N	\N	EFO	3	EFO	cell line	SNU449
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002349	"" []	2999446	\N	\N	EFO	5	EFO	experimental factor	SNU449
EFO:0002350	\N	\N	"" []	EFO:0002350	"" []	65214	\N	\N	EFO	0	EFO	SNU475	SNU475
EFO:0002888	EFO:0002350	\N	"" []	EFO:0002350	"" []	206156	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU475
EFO:0005216	EFO:0002350	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0002350	"" []	206157	\N	\N	EFO	1	EFO	hepatoma cell line	SNU475
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002350	"" []	559257	\N	\N	EFO	2	EFO	cell line	SNU475
EFO:0001639	EFO:0005216	\N	"" []	EFO:0002350	"" []	559258	\N	\N	EFO	2	EFO	cancer cell line	SNU475
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002350	"" []	2024221	\N	\N	EFO	4	EFO	material entity	SNU475
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002350	"" []	1141271	\N	\N	EFO	3	EFO	cell line	SNU475
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002350	"" []	2999447	\N	\N	EFO	5	EFO	experimental factor	SNU475
EFO:0002351	\N	\N	"" []	EFO:0002351	"" []	65215	\N	\N	EFO	0	EFO	SNU5	SNU5
EFO:0001639	EFO:0002351	\N	"" []	EFO:0002351	"" []	206158	\N	\N	EFO	1	EFO	cancer cell line	SNU5
EFO:0002888	EFO:0002351	\N	"" []	EFO:0002351	"" []	206159	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002351	"" []	559259	\N	\N	EFO	2	EFO	cell line	SNU5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002351	"" []	559260	\N	\N	EFO	2	EFO	cell line	SNU5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002351	"" []	1141272	\N	\N	EFO	3	EFO	material entity	SNU5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002351	"" []	2024222	\N	\N	EFO	4	EFO	experimental factor	SNU5
EFO:0002352	\N	\N	"" []	EFO:0002352	"" []	65216	\N	\N	EFO	0	EFO	SR	SR
EFO:0002888	EFO:0002352	\N	"" []	EFO:0002352	"" []	206160	\N	\N	EFO	1	EFO	Homo sapiens cell line	SR
EFO:0002937	EFO:0002352	\N	"" []	EFO:0002352	"" []	206161	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	SR
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002352	"" []	559261	\N	\N	EFO	2	EFO	cell line	SR
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002352	"" []	559262	\N	\N	EFO	2	EFO	cancer cell line	SR
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002352	"" []	2024224	\N	\N	EFO	4	EFO	material entity	SR
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002352	"" []	1141274	\N	\N	EFO	3	EFO	cell line	SR
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002352	"" []	2999448	\N	\N	EFO	5	EFO	experimental factor	SR
EFO:0002353	\N	\N	"" []	EFO:0002353	"" []	65217	\N	\N	EFO	0	EFO	ST486	ST486
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002353	"" []	194548	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	ST486
EFO:0002888	EFO:0002353	\N	"" []	EFO:0002353	"" []	206162	\N	\N	EFO	1	EFO	Homo sapiens cell line	ST486
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002353	"" []	559263	\N	\N	EFO	2	EFO	cell line	ST486
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002353	"" []	1141275	\N	\N	EFO	3	EFO	material entity	ST486
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002353	"" []	2024225	\N	\N	EFO	4	EFO	experimental factor	ST486
EFO:0002354	\N	\N	"" []	EFO:0002354	"" []	65218	\N	\N	EFO	0	EFO	SUDHL10	SUDHL10
EFO:0002888	EFO:0002354	\N	"" []	EFO:0002354	"" []	206163	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUDHL10
EFO:0002937	EFO:0002354	\N	"" []	EFO:0002354	"" []	206164	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	SUDHL10
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002354	"" []	559264	\N	\N	EFO	2	EFO	cell line	SUDHL10
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002354	"" []	559265	\N	\N	EFO	2	EFO	cancer cell line	SUDHL10
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002354	"" []	2024227	\N	\N	EFO	4	EFO	material entity	SUDHL10
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002354	"" []	1141277	\N	\N	EFO	3	EFO	cell line	SUDHL10
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002354	"" []	2999449	\N	\N	EFO	5	EFO	experimental factor	SUDHL10
EFO:0002355	\N	\N	"" []	EFO:0002355	"" []	65219	\N	\N	EFO	0	EFO	SUDHL16	SUDHL16
EFO:0001639	EFO:0002355	\N	"" []	EFO:0002355	"" []	206165	\N	\N	EFO	1	EFO	cancer cell line	SUDHL16
EFO:0002888	EFO:0002355	\N	"" []	EFO:0002355	"" []	206166	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUDHL16
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002355	"" []	559266	\N	\N	EFO	2	EFO	cell line	SUDHL16
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002355	"" []	559267	\N	\N	EFO	2	EFO	cell line	SUDHL16
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002355	"" []	1141278	\N	\N	EFO	3	EFO	material entity	SUDHL16
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002355	"" []	2024228	\N	\N	EFO	4	EFO	experimental factor	SUDHL16
EFO:0002356	\N	\N	"" []	EFO:0002356	"" []	65220	\N	\N	EFO	0	EFO	SUDHL5	SUDHL5
EFO:0001639	EFO:0002356	\N	"" []	EFO:0002356	"" []	206167	\N	\N	EFO	1	EFO	cancer cell line	SUDHL5
EFO:0002888	EFO:0002356	\N	"" []	EFO:0002356	"" []	206168	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUDHL5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002356	"" []	559268	\N	\N	EFO	2	EFO	cell line	SUDHL5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002356	"" []	559269	\N	\N	EFO	2	EFO	cell line	SUDHL5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002356	"" []	1141279	\N	\N	EFO	3	EFO	material entity	SUDHL5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002356	"" []	2024229	\N	\N	EFO	4	EFO	experimental factor	SUDHL5
EFO:0002357	\N	\N	"" []	EFO:0002357	"" []	65221	\N	\N	EFO	0	EFO	SUDHL6	SUDHL6
EFO:0002888	EFO:0002357	\N	"" []	EFO:0002357	"" []	206169	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUDHL6
EFO:0002937	EFO:0002357	\N	"" []	EFO:0002357	"" []	206170	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	SUDHL6
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002357	"" []	559270	\N	\N	EFO	2	EFO	cell line	SUDHL6
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002357	"" []	559271	\N	\N	EFO	2	EFO	cancer cell line	SUDHL6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002357	"" []	2024231	\N	\N	EFO	4	EFO	material entity	SUDHL6
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002357	"" []	1141281	\N	\N	EFO	3	EFO	cell line	SUDHL6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002357	"" []	2999450	\N	\N	EFO	5	EFO	experimental factor	SUDHL6
EFO:0002358	\N	\N	"" []	EFO:0002358	"" []	65222	\N	\N	EFO	0	EFO	SW1088	SW1088
EFO:0001639	EFO:0002358	\N	"" []	EFO:0002358	"" []	206171	\N	\N	EFO	1	EFO	cancer cell line	SW1088
EFO:0002888	EFO:0002358	\N	"" []	EFO:0002358	"" []	206172	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW1088
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002358	"" []	559272	\N	\N	EFO	2	EFO	cell line	SW1088
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002358	"" []	559273	\N	\N	EFO	2	EFO	cell line	SW1088
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002358	"" []	1141282	\N	\N	EFO	3	EFO	material entity	SW1088
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002358	"" []	2024232	\N	\N	EFO	4	EFO	experimental factor	SW1088
EFO:0002359	\N	\N	"" []	EFO:0002359	"" []	65223	\N	\N	EFO	0	EFO	SW1116	SW1116
BTO:0000797	\N	\N	"" []	EFO:0002359	"" []	194549	\N	\N	EFO	0	EFO	colonic cancer cell line	SW1116
EFO:0001639	EFO:0002359	\N	"" []	EFO:0002359	"" []	206173	\N	\N	EFO	1	EFO	cancer cell line	SW1116
EFO:0002888	EFO:0002359	\N	"" []	EFO:0002359	"" []	206174	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW1116
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002359	"" []	559274	\N	\N	EFO	2	EFO	cell line	SW1116
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002359	"" []	559275	\N	\N	EFO	2	EFO	cell line	SW1116
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002359	"" []	1141283	\N	\N	EFO	3	EFO	material entity	SW1116
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002359	"" []	2024233	\N	\N	EFO	4	EFO	experimental factor	SW1116
EFO:0002360	\N	\N	"" []	EFO:0002360	"" []	65224	\N	\N	EFO	0	EFO	SW1353	SW1353
EFO:0001639	EFO:0002360	\N	"" []	EFO:0002360	"" []	206175	\N	\N	EFO	1	EFO	cancer cell line	SW1353
EFO:0002888	EFO:0002360	\N	"" []	EFO:0002360	"" []	206176	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW1353
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002360	"" []	559276	\N	\N	EFO	2	EFO	cell line	SW1353
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002360	"" []	559277	\N	\N	EFO	2	EFO	cell line	SW1353
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002360	"" []	1141284	\N	\N	EFO	3	EFO	material entity	SW1353
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002360	"" []	2024234	\N	\N	EFO	4	EFO	experimental factor	SW1353
EFO:0002361	\N	\N	"" []	EFO:0002361	"" []	65225	\N	\N	EFO	0	EFO	SW1417	SW1417
BTO:0000797	\N	\N	"" []	EFO:0002361	"" []	194550	\N	\N	EFO	0	EFO	colonic cancer cell line	SW1417
EFO:0001639	EFO:0002361	\N	"" []	EFO:0002361	"" []	206177	\N	\N	EFO	1	EFO	cancer cell line	SW1417
EFO:0002888	EFO:0002361	\N	"" []	EFO:0002361	"" []	206178	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW1417
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002361	"" []	559278	\N	\N	EFO	2	EFO	cell line	SW1417
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002361	"" []	559279	\N	\N	EFO	2	EFO	cell line	SW1417
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002361	"" []	1141285	\N	\N	EFO	3	EFO	material entity	SW1417
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002361	"" []	2024235	\N	\N	EFO	4	EFO	experimental factor	SW1417
EFO:0002362	\N	\N	"" []	EFO:0002362	"" []	65226	\N	\N	EFO	0	EFO	SW1463	SW1463
BTO:0000797	\N	\N	"" []	EFO:0002362	"" []	194551	\N	\N	EFO	0	EFO	colonic cancer cell line	SW1463
EFO:0001639	EFO:0002362	\N	"" []	EFO:0002362	"" []	206179	\N	\N	EFO	1	EFO	cancer cell line	SW1463
EFO:0002888	EFO:0002362	\N	"" []	EFO:0002362	"" []	206180	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW1463
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002362	"" []	559280	\N	\N	EFO	2	EFO	cell line	SW1463
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002362	"" []	559281	\N	\N	EFO	2	EFO	cell line	SW1463
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002362	"" []	1141286	\N	\N	EFO	3	EFO	material entity	SW1463
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002362	"" []	2024236	\N	\N	EFO	4	EFO	experimental factor	SW1463
EFO:0002363	\N	\N	"" []	EFO:0002363	"" []	65227	\N	\N	EFO	0	EFO	SW1573	SW1573
EFO:0002888	EFO:0002363	\N	"" []	EFO:0002363	"" []	206181	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW1573
EFO:0002934	EFO:0002363	\N	"" []	EFO:0002363	"" []	206182	\N	\N	EFO	1	EFO	lung cancer cell line	SW1573
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002363	"" []	559282	\N	\N	EFO	2	EFO	cell line	SW1573
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002363	"" []	559283	\N	\N	EFO	2	EFO	cancer cell line	SW1573
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002363	"" []	2024238	\N	\N	EFO	4	EFO	material entity	SW1573
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002363	"" []	1141288	\N	\N	EFO	3	EFO	cell line	SW1573
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002363	"" []	2999451	\N	\N	EFO	5	EFO	experimental factor	SW1573
EFO:0002364	\N	\N	"" []	EFO:0002364	"" []	65228	\N	\N	EFO	0	EFO	SW1783	SW1783
EFO:0001639	EFO:0002364	\N	"" []	EFO:0002364	"" []	206183	\N	\N	EFO	1	EFO	cancer cell line	SW1783
EFO:0002888	EFO:0002364	\N	"" []	EFO:0002364	"" []	206184	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW1783
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002364	"" []	559284	\N	\N	EFO	2	EFO	cell line	SW1783
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002364	"" []	559285	\N	\N	EFO	2	EFO	cell line	SW1783
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002364	"" []	1141289	\N	\N	EFO	3	EFO	material entity	SW1783
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002364	"" []	2024239	\N	\N	EFO	4	EFO	experimental factor	SW1783
EFO:0002365	\N	\N	"" []	EFO:0002365	"" []	65229	\N	\N	EFO	0	EFO	SW1990	SW1990
EFO:0001639	EFO:0002365	\N	"" []	EFO:0002365	"" []	206185	\N	\N	EFO	1	EFO	cancer cell line	SW1990
EFO:0002888	EFO:0002365	\N	"" []	EFO:0002365	"" []	206186	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW1990
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002365	"" []	559286	\N	\N	EFO	2	EFO	cell line	SW1990
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002365	"" []	559287	\N	\N	EFO	2	EFO	cell line	SW1990
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002365	"" []	1141290	\N	\N	EFO	3	EFO	material entity	SW1990
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002365	"" []	2024240	\N	\N	EFO	4	EFO	experimental factor	SW1990
EFO:0002366	\N	\N	"" []	EFO:0002366	"" []	65230	\N	\N	EFO	0	EFO	SW403	SW403
BTO:0000797	\N	\N	"" []	EFO:0002366	"" []	194552	\N	\N	EFO	0	EFO	colonic cancer cell line	SW403
EFO:0001639	EFO:0002366	\N	"" []	EFO:0002366	"" []	206187	\N	\N	EFO	1	EFO	cancer cell line	SW403
EFO:0002888	EFO:0002366	\N	"" []	EFO:0002366	"" []	206188	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW403
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002366	"" []	559288	\N	\N	EFO	2	EFO	cell line	SW403
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002366	"" []	559289	\N	\N	EFO	2	EFO	cell line	SW403
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002366	"" []	1141291	\N	\N	EFO	3	EFO	material entity	SW403
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002366	"" []	2024241	\N	\N	EFO	4	EFO	experimental factor	SW403
EFO:0002367	\N	\N	"" []	EFO:0002367	"" []	65231	\N	\N	EFO	0	EFO	SW48	SW48
BTO:0000797	\N	\N	"" []	EFO:0002367	"" []	194553	\N	\N	EFO	0	EFO	colonic cancer cell line	SW48
EFO:0001639	EFO:0002367	\N	"" []	EFO:0002367	"" []	206189	\N	\N	EFO	1	EFO	cancer cell line	SW48
EFO:0002888	EFO:0002367	\N	"" []	EFO:0002367	"" []	206190	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW48
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002367	"" []	559290	\N	\N	EFO	2	EFO	cell line	SW48
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002367	"" []	559291	\N	\N	EFO	2	EFO	cell line	SW48
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002367	"" []	1141292	\N	\N	EFO	3	EFO	material entity	SW48
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002367	"" []	2024242	\N	\N	EFO	4	EFO	experimental factor	SW48
EFO:0002368	\N	\N	"" []	EFO:0002368	"" []	65232	\N	\N	EFO	0	EFO	SW620	SW620
BTO:0000797	\N	\N	"" []	EFO:0002368	"" []	194554	\N	\N	EFO	0	EFO	colonic cancer cell line	SW620
EFO:0001639	EFO:0002368	\N	"" []	EFO:0002368	"" []	206191	\N	\N	EFO	1	EFO	cancer cell line	SW620
EFO:0002888	EFO:0002368	\N	"" []	EFO:0002368	"" []	206192	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW620
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002368	"" []	559292	\N	\N	EFO	2	EFO	cell line	SW620
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002368	"" []	559293	\N	\N	EFO	2	EFO	cell line	SW620
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002368	"" []	1141293	\N	\N	EFO	3	EFO	material entity	SW620
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002368	"" []	2024243	\N	\N	EFO	4	EFO	experimental factor	SW620
EFO:0002369	\N	\N	"" []	EFO:0002369	"" []	65233	\N	\N	EFO	0	EFO	SW684	SW684
EFO:0001639	EFO:0002369	\N	"" []	EFO:0002369	"" []	206193	\N	\N	EFO	1	EFO	cancer cell line	SW684
EFO:0002888	EFO:0002369	\N	"" []	EFO:0002369	"" []	206194	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW684
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002369	"" []	559294	\N	\N	EFO	2	EFO	cell line	SW684
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002369	"" []	559295	\N	\N	EFO	2	EFO	cell line	SW684
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002369	"" []	1141294	\N	\N	EFO	3	EFO	material entity	SW684
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002369	"" []	2024244	\N	\N	EFO	4	EFO	experimental factor	SW684
EFO:0002370	\N	\N	"" []	EFO:0002370	"" []	65234	\N	\N	EFO	0	EFO	SW756	SW756
BTO:0001967	\N	\N	"" []	EFO:0002370	"" []	194555	\N	\N	EFO	0	EFO	cervical cancer cell line	SW756
EFO:0002888	EFO:0002370	\N	"" []	EFO:0002370	"" []	206195	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW756
EFO:0005218	EFO:0002370	\N	"A cell line which is used as a model for cervical carcinoma." []	EFO:0002370	"" []	206196	\N	\N	EFO	1	EFO	cervical carcinoma cell line	SW756
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002370	"" []	559296	\N	\N	EFO	2	EFO	cell line	SW756
EFO:0001639	EFO:0005218	\N	"" []	EFO:0002370	"" []	559297	\N	\N	EFO	2	EFO	cancer cell line	SW756
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002370	"" []	2024246	\N	\N	EFO	4	EFO	material entity	SW756
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002370	"" []	1141296	\N	\N	EFO	3	EFO	cell line	SW756
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002370	"" []	2999452	\N	\N	EFO	5	EFO	experimental factor	SW756
EFO:0002371	\N	\N	"" []	EFO:0002371	"" []	65235	\N	\N	EFO	0	EFO	SW780	SW780
EFO:0001639	EFO:0002371	\N	"" []	EFO:0002371	"" []	206197	\N	\N	EFO	1	EFO	cancer cell line	SW780
EFO:0002888	EFO:0002371	\N	"" []	EFO:0002371	"" []	206198	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW780
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002371	"" []	559298	\N	\N	EFO	2	EFO	cell line	SW780
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002371	"" []	559299	\N	\N	EFO	2	EFO	cell line	SW780
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002371	"" []	1141297	\N	\N	EFO	3	EFO	material entity	SW780
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002371	"" []	2024247	\N	\N	EFO	4	EFO	experimental factor	SW780
EFO:0002372	\N	\N	"" []	EFO:0002372	"" []	65236	\N	\N	EFO	0	EFO	SW837	SW837
BTO:0000797	\N	\N	"" []	EFO:0002372	"" []	194556	\N	\N	EFO	0	EFO	colonic cancer cell line	SW837
EFO:0001639	EFO:0002372	\N	"" []	EFO:0002372	"" []	206199	\N	\N	EFO	1	EFO	cancer cell line	SW837
EFO:0002888	EFO:0002372	\N	"" []	EFO:0002372	"" []	206200	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW837
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002372	"" []	559300	\N	\N	EFO	2	EFO	cell line	SW837
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002372	"" []	559301	\N	\N	EFO	2	EFO	cell line	SW837
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002372	"" []	1141298	\N	\N	EFO	3	EFO	material entity	SW837
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002372	"" []	2024248	\N	\N	EFO	4	EFO	experimental factor	SW837
EFO:0002373	\N	\N	"" []	EFO:0002373	"" []	65237	\N	\N	EFO	0	EFO	SW872	SW872
EFO:0001639	EFO:0002373	\N	"" []	EFO:0002373	"" []	206201	\N	\N	EFO	1	EFO	cancer cell line	SW872
EFO:0002888	EFO:0002373	\N	"" []	EFO:0002373	"" []	206202	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW872
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002373	"" []	559302	\N	\N	EFO	2	EFO	cell line	SW872
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002373	"" []	559303	\N	\N	EFO	2	EFO	cell line	SW872
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002373	"" []	1141299	\N	\N	EFO	3	EFO	material entity	SW872
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002373	"" []	2024249	\N	\N	EFO	4	EFO	experimental factor	SW872
EFO:0002374	\N	\N	"" []	EFO:0002374	"" []	65238	\N	\N	EFO	0	EFO	SW900	SW900
EFO:0002888	EFO:0002374	\N	"" []	EFO:0002374	"" []	206203	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW900
EFO:0002934	EFO:0002374	\N	"" []	EFO:0002374	"" []	206204	\N	\N	EFO	1	EFO	lung cancer cell line	SW900
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002374	"" []	559304	\N	\N	EFO	2	EFO	cell line	SW900
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002374	"" []	559305	\N	\N	EFO	2	EFO	cancer cell line	SW900
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002374	"" []	2024251	\N	\N	EFO	4	EFO	material entity	SW900
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002374	"" []	1141301	\N	\N	EFO	3	EFO	cell line	SW900
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002374	"" []	2999453	\N	\N	EFO	5	EFO	experimental factor	SW900
EFO:0002375	\N	\N	"" []	EFO:0002375	"" []	65239	\N	\N	EFO	0	EFO	SW948	SW948
BTO:0000797	\N	\N	"" []	EFO:0002375	"" []	194557	\N	\N	EFO	0	EFO	colonic cancer cell line	SW948
EFO:0001639	EFO:0002375	\N	"" []	EFO:0002375	"" []	206205	\N	\N	EFO	1	EFO	cancer cell line	SW948
EFO:0002888	EFO:0002375	\N	"" []	EFO:0002375	"" []	206206	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW948
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002375	"" []	559306	\N	\N	EFO	2	EFO	cell line	SW948
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002375	"" []	559307	\N	\N	EFO	2	EFO	cell line	SW948
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002375	"" []	1141302	\N	\N	EFO	3	EFO	material entity	SW948
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002375	"" []	2024252	\N	\N	EFO	4	EFO	experimental factor	SW948
EFO:0002376	\N	\N	"" []	EFO:0002376	"" []	65240	\N	\N	EFO	0	EFO	SW954	SW954
EFO:0001639	EFO:0002376	\N	"" []	EFO:0002376	"" []	206207	\N	\N	EFO	1	EFO	cancer cell line	SW954
EFO:0002888	EFO:0002376	\N	"" []	EFO:0002376	"" []	206208	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW954
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002376	"" []	559308	\N	\N	EFO	2	EFO	cell line	SW954
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002376	"" []	559309	\N	\N	EFO	2	EFO	cell line	SW954
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002376	"" []	1141303	\N	\N	EFO	3	EFO	material entity	SW954
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002376	"" []	2024253	\N	\N	EFO	4	EFO	experimental factor	SW954
EFO:0002377	\N	\N	"" []	EFO:0002377	"" []	65241	\N	\N	EFO	0	EFO	SW962	SW962
EFO:0001639	EFO:0002377	\N	"" []	EFO:0002377	"" []	206209	\N	\N	EFO	1	EFO	cancer cell line	SW962
EFO:0002888	EFO:0002377	\N	"" []	EFO:0002377	"" []	206210	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW962
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002377	"" []	559310	\N	\N	EFO	2	EFO	cell line	SW962
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002377	"" []	559311	\N	\N	EFO	2	EFO	cell line	SW962
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002377	"" []	1141304	\N	\N	EFO	3	EFO	material entity	SW962
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002377	"" []	2024254	\N	\N	EFO	4	EFO	experimental factor	SW962
EFO:0002378	\N	\N	"" []	EFO:0002378	"" []	65242	\N	\N	EFO	0	EFO	SW982	SW982
EFO:0001639	EFO:0002378	\N	"" []	EFO:0002378	"" []	206211	\N	\N	EFO	1	EFO	cancer cell line	SW982
EFO:0002888	EFO:0002378	\N	"" []	EFO:0002378	"" []	206212	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW982
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002378	"" []	559312	\N	\N	EFO	2	EFO	cell line	SW982
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002378	"" []	559313	\N	\N	EFO	2	EFO	cell line	SW982
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002378	"" []	1141305	\N	\N	EFO	3	EFO	material entity	SW982
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002378	"" []	2024255	\N	\N	EFO	4	EFO	experimental factor	SW982
EFO:0002379	\N	\N	"" []	EFO:0002379	"" []	65243	\N	\N	EFO	0	EFO	SiHa	SiHa
BTO:0001967	\N	\N	"" []	EFO:0002379	"" []	194558	\N	\N	EFO	0	EFO	cervical cancer cell line	SiHa
EFO:0002888	EFO:0002379	\N	"" []	EFO:0002379	"" []	206213	\N	\N	EFO	1	EFO	Homo sapiens cell line	SiHa
EFO:0005218	EFO:0002379	\N	"A cell line which is used as a model for cervical carcinoma." []	EFO:0002379	"" []	206214	\N	\N	EFO	1	EFO	cervical carcinoma cell line	SiHa
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002379	"" []	559314	\N	\N	EFO	2	EFO	cell line	SiHa
EFO:0001639	EFO:0005218	\N	"" []	EFO:0002379	"" []	559315	\N	\N	EFO	2	EFO	cancer cell line	SiHa
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002379	"" []	2024257	\N	\N	EFO	4	EFO	material entity	SiHa
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002379	"" []	1141307	\N	\N	EFO	3	EFO	cell line	SiHa
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002379	"" []	2999454	\N	\N	EFO	5	EFO	experimental factor	SiHa
EFO:0002380	\N	\N	"" []	EFO:0002380	"" []	65244	\N	\N	EFO	0	EFO	TANOUE	TANOUE
EFO:0001639	EFO:0002380	\N	"" []	EFO:0002380	"" []	206215	\N	\N	EFO	1	EFO	cancer cell line	TANOUE
EFO:0002888	EFO:0002380	\N	"" []	EFO:0002380	"" []	206216	\N	\N	EFO	1	EFO	Homo sapiens cell line	TANOUE
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002380	"" []	559316	\N	\N	EFO	2	EFO	cell line	TANOUE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002380	"" []	559317	\N	\N	EFO	2	EFO	cell line	TANOUE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002380	"" []	1141308	\N	\N	EFO	3	EFO	material entity	TANOUE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002380	"" []	2024258	\N	\N	EFO	4	EFO	experimental factor	TANOUE
EFO:0002382	\N	\N	"" []	EFO:0002382	"" []	65245	\N	\N	EFO	0	EFO	TT	TT
EFO:0001639	EFO:0002382	\N	"" []	EFO:0002382	"" []	206217	\N	\N	EFO	1	EFO	cancer cell line	TT
EFO:0002888	EFO:0002382	\N	"" []	EFO:0002382	"" []	206218	\N	\N	EFO	1	EFO	Homo sapiens cell line	TT
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002382	"" []	559318	\N	\N	EFO	2	EFO	cell line	TT
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002382	"" []	559319	\N	\N	EFO	2	EFO	cell line	TT
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002382	"" []	1141309	\N	\N	EFO	3	EFO	material entity	TT
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002382	"" []	2024259	\N	\N	EFO	4	EFO	experimental factor	TT
EFO:0002383	\N	\N	"" []	EFO:0002383	"" []	65246	\N	\N	EFO	0	EFO	Toledo	Toledo
EFO:0001639	EFO:0002383	\N	"" []	EFO:0002383	"" []	206219	\N	\N	EFO	1	EFO	cancer cell line	Toledo
EFO:0002888	EFO:0002383	\N	"" []	EFO:0002383	"" []	206220	\N	\N	EFO	1	EFO	Homo sapiens cell line	Toledo
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002383	"" []	559320	\N	\N	EFO	2	EFO	cell line	Toledo
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002383	"" []	559321	\N	\N	EFO	2	EFO	cell line	Toledo
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002383	"" []	1141310	\N	\N	EFO	3	EFO	material entity	Toledo
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002383	"" []	2024260	\N	\N	EFO	4	EFO	experimental factor	Toledo
EFO:0002385	\N	\N	"" []	EFO:0002385	"" []	65247	\N	\N	EFO	0	EFO	UACC893	UACC893
EFO:0002884	EFO:0002385	\N	"" []	EFO:0002385	"" []	206221	\N	\N	EFO	1	EFO	mammary gland cell line	UACC893
EFO:0002885	EFO:0002385	\N	"" []	EFO:0002385	"" []	206222	\N	\N	EFO	1	EFO	breast cancer cell line	UACC893
EFO:0002888	EFO:0002385	\N	"" []	EFO:0002385	"" []	206223	\N	\N	EFO	1	EFO	Homo sapiens cell line	UACC893
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002385	"" []	559322	\N	\N	EFO	2	EFO	cell line	UACC893
EFO:0001639	EFO:0002885	\N	"" []	EFO:0002385	"" []	559323	\N	\N	EFO	2	EFO	cancer cell line	UACC893
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002385	"" []	559324	\N	\N	EFO	2	EFO	cell line	UACC893
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002385	"" []	2024262	\N	\N	EFO	4	EFO	material entity	UACC893
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002385	"" []	1141312	\N	\N	EFO	3	EFO	cell line	UACC893
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002385	"" []	2999455	\N	\N	EFO	5	EFO	experimental factor	UACC893
EFO:0002386	\N	\N	"" []	EFO:0002386	"" []	65248	\N	\N	EFO	0	EFO	UMC11	UMC11
EFO:0002888	EFO:0002386	\N	"" []	EFO:0002386	"" []	206224	\N	\N	EFO	1	EFO	Homo sapiens cell line	UMC11
EFO:0002934	EFO:0002386	\N	"" []	EFO:0002386	"" []	206225	\N	\N	EFO	1	EFO	lung cancer cell line	UMC11
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002386	"" []	559325	\N	\N	EFO	2	EFO	cell line	UMC11
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002386	"" []	559326	\N	\N	EFO	2	EFO	cancer cell line	UMC11
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002386	"" []	2024264	\N	\N	EFO	4	EFO	material entity	UMC11
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002386	"" []	1141314	\N	\N	EFO	3	EFO	cell line	UMC11
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002386	"" []	2999456	\N	\N	EFO	5	EFO	experimental factor	UMC11
EFO:0002389	\N	\N	"" []	EFO:0002389	"" []	65249	\N	\N	EFO	0	EFO	WIDR	WIDR
BTO:0000797	\N	\N	"" []	EFO:0002389	"" []	194559	\N	\N	EFO	0	EFO	colonic cancer cell line	WIDR
EFO:0001639	EFO:0002389	\N	"" []	EFO:0002389	"" []	206226	\N	\N	EFO	1	EFO	cancer cell line	WIDR
EFO:0002888	EFO:0002389	\N	"" []	EFO:0002389	"" []	206227	\N	\N	EFO	1	EFO	Homo sapiens cell line	WIDR
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002389	"" []	559327	\N	\N	EFO	2	EFO	cell line	WIDR
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002389	"" []	559328	\N	\N	EFO	2	EFO	cell line	WIDR
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002389	"" []	1141315	\N	\N	EFO	3	EFO	material entity	WIDR
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002389	"" []	2024265	\N	\N	EFO	4	EFO	experimental factor	WIDR
EFO:0002390	\N	\N	"" []	EFO:0002390	"" []	65250	\N	\N	EFO	0	EFO	WM115	WM115
BTO:0000849	EFO:0002390	\N	"" []	EFO:0002390	"" []	206228	\N	\N	EFO	1	EFO	melanoma cell line	WM115
EFO:0002888	EFO:0002390	\N	"" []	EFO:0002390	"" []	206229	\N	\N	EFO	1	EFO	Homo sapiens cell line	WM115
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002390	"" []	559329	\N	\N	EFO	2	EFO	cancer cell line	WM115
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002390	"" []	559330	\N	\N	EFO	2	EFO	cell line	WM115
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002390	"" []	1141316	\N	\N	EFO	3	EFO	cell line	WM115
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002390	"" []	2024266	\N	\N	EFO	4	EFO	material entity	WM115
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002390	"" []	2999457	\N	\N	EFO	5	EFO	experimental factor	WM115
EFO:0002392	\N	\N	"" []	EFO:0002392	"" []	65251	\N	\N	EFO	0	EFO	Y79	Y79
EFO:0002888	EFO:0002392	\N	"" []	EFO:0002392	"" []	206230	\N	\N	EFO	1	EFO	Homo sapiens cell line	Y79
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002392	"" []	559331	\N	\N	EFO	2	EFO	cell line	Y79
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002392	"" []	1141318	\N	\N	EFO	3	EFO	material entity	Y79
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002392	"" []	2024268	\N	\N	EFO	4	EFO	experimental factor	Y79
EFO:0002394	\N	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0002394	"Cell lines derived from ovarian cancer tissue." []	65252	\N	\N	EFO	0	EFO	ovarian cancer cell lines	ovarian cancer cell lines
EFO:0001639	EFO:0002394	\N	"" []	EFO:0002394	"Cell lines derived from ovarian cancer tissue." []	206231	\N	\N	EFO	1	EFO	cancer cell line	ovarian cancer cell lines
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002394	"Cell lines derived from ovarian cancer tissue." []	559332	\N	\N	EFO	2	EFO	cell line	ovarian cancer cell lines
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002394	"Cell lines derived from ovarian cancer tissue." []	1141319	\N	\N	EFO	3	EFO	material entity	ovarian cancer cell lines
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002394	"Cell lines derived from ovarian cancer tissue." []	2024269	\N	\N	EFO	4	EFO	experimental factor	ovarian cancer cell lines
EFO:0002422	\N	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0002422	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	65253	\N	\N	EFO	0	EFO	benign neoplasm	benign neoplasm
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002422	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	206232	\N	\N	EFO	1	EFO	neoplasm	benign neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002422	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	559333	\N	\N	EFO	2	EFO	disease	benign neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002422	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	1141320	\N	\N	EFO	3	EFO	disposition	benign neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002422	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	2024270	\N	\N	EFO	4	EFO	material property	benign neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002422	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	3177438	\N	\N	EFO	5	EFO	experimental factor	benign neoplasm
EFO:0002423	\N	\N	"A rare, benign neoplasm arising from the bone." []	EFO:0002423	"A rare, benign neoplasm arising from the bone." []	65254	\N	\N	EFO	0	EFO	osteoma	osteoma
EFO:0002422	EFO:0002423	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0002423	"A rare, benign neoplasm arising from the bone." []	206233	\N	\N	EFO	1	EFO	benign neoplasm	osteoma
EFO:0003820	EFO:0002423	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:0002423	"A rare, benign neoplasm arising from the bone." []	206234	\N	\N	EFO	1	EFO	bone neoplasm	osteoma
EFO:0004260	EFO:0002423	\N	"Diseases of BONES." []	EFO:0002423	"A rare, benign neoplasm arising from the bone." []	206235	\N	\N	EFO	1	EFO	bone disease	osteoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002423	"A rare, benign neoplasm arising from the bone." []	559334	\N	\N	EFO	2	EFO	neoplasm	osteoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002423	"A rare, benign neoplasm arising from the bone." []	559335	\N	\N	EFO	2	EFO	neoplasm	osteoma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0002423	"A rare, benign neoplasm arising from the bone." []	559336	\N	\N	EFO	2	EFO	skeletal system disease	osteoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002423	"A rare, benign neoplasm arising from the bone." []	1141321	\N	\N	EFO	3	EFO	disease	osteoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002423	"A rare, benign neoplasm arising from the bone." []	1141322	\N	\N	EFO	3	EFO	disease	osteoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002423	"A rare, benign neoplasm arising from the bone." []	2024271	\N	\N	EFO	4	EFO	disposition	osteoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002423	"A rare, benign neoplasm arising from the bone." []	3177439	\N	\N	EFO	5	EFO	material property	osteoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002423	"A rare, benign neoplasm arising from the bone." []	4387742	\N	\N	EFO	6	EFO	experimental factor	osteoma
EFO:0002424	\N	\N	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	EFO:0002424	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	65255	\N	\N	EFO	0	EFO	fibroma	fibroma
EFO:0002422	EFO:0002424	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0002424	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	206236	\N	\N	EFO	1	EFO	benign neoplasm	fibroma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002424	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	559337	\N	\N	EFO	2	EFO	neoplasm	fibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002424	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	1141323	\N	\N	EFO	3	EFO	disease	fibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002424	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	2024272	\N	\N	EFO	4	EFO	disposition	fibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002424	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	3177440	\N	\N	EFO	5	EFO	material property	fibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002424	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	4387743	\N	\N	EFO	6	EFO	experimental factor	fibroma
EFO:0002425	\N	\N	"a neoplasm arising from immature B and T cells" []	EFO:0002425	"a neoplasm arising from immature B and T cells" []	65256	\N	\N	EFO	0	EFO	neoplasm of immature B and T cells	neoplasm of immature B and T cells
EFO:0001642	EFO:0002425	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0002425	"a neoplasm arising from immature B and T cells" []	206237	\N	\N	EFO	1	EFO	lymphoid neoplasm	neoplasm of immature B and T cells
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002425	"a neoplasm arising from immature B and T cells" []	559338	\N	\N	EFO	2	EFO	cancer	neoplasm of immature B and T cells
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0002425	"a neoplasm arising from immature B and T cells" []	559339	\N	\N	EFO	2	EFO	hematological system disease	neoplasm of immature B and T cells
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002425	"a neoplasm arising from immature B and T cells" []	1141324	\N	\N	EFO	3	EFO	neoplasm	neoplasm of immature B and T cells
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002425	"a neoplasm arising from immature B and T cells" []	1141325	\N	\N	EFO	3	EFO	disease	neoplasm of immature B and T cells
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002425	"a neoplasm arising from immature B and T cells" []	2024273	\N	\N	EFO	4	EFO	disease	neoplasm of immature B and T cells
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002425	"a neoplasm arising from immature B and T cells" []	3177441	\N	\N	EFO	5	EFO	disposition	neoplasm of immature B and T cells
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002425	"a neoplasm arising from immature B and T cells" []	4132575	\N	\N	EFO	6	EFO	material property	neoplasm of immature B and T cells
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002425	"a neoplasm arising from immature B and T cells" []	5180918	\N	\N	EFO	7	EFO	experimental factor	neoplasm of immature B and T cells
EFO:0002426	\N	\N	"a neoplasm arising from mature T-cells or natural killer cells" []	EFO:0002426	"a neoplasm arising from mature T-cells or natural killer cells" []	65257	\N	\N	EFO	0	EFO	neoplasm of mature T-cells or NK-cells	neoplasm of mature T-cells or NK-cells
EFO:0001642	EFO:0002426	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0002426	"a neoplasm arising from mature T-cells or natural killer cells" []	206238	\N	\N	EFO	1	EFO	lymphoid neoplasm	neoplasm of mature T-cells or NK-cells
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002426	"a neoplasm arising from mature T-cells or natural killer cells" []	559340	\N	\N	EFO	2	EFO	cancer	neoplasm of mature T-cells or NK-cells
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0002426	"a neoplasm arising from mature T-cells or natural killer cells" []	559341	\N	\N	EFO	2	EFO	hematological system disease	neoplasm of mature T-cells or NK-cells
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002426	"a neoplasm arising from mature T-cells or natural killer cells" []	1141326	\N	\N	EFO	3	EFO	neoplasm	neoplasm of mature T-cells or NK-cells
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002426	"a neoplasm arising from mature T-cells or natural killer cells" []	1141327	\N	\N	EFO	3	EFO	disease	neoplasm of mature T-cells or NK-cells
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002426	"a neoplasm arising from mature T-cells or natural killer cells" []	2024275	\N	\N	EFO	4	EFO	disease	neoplasm of mature T-cells or NK-cells
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002426	"a neoplasm arising from mature T-cells or natural killer cells" []	3177443	\N	\N	EFO	5	EFO	disposition	neoplasm of mature T-cells or NK-cells
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002426	"a neoplasm arising from mature T-cells or natural killer cells" []	4132576	\N	\N	EFO	6	EFO	material property	neoplasm of mature T-cells or NK-cells
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002426	"a neoplasm arising from mature T-cells or natural killer cells" []	5180919	\N	\N	EFO	7	EFO	experimental factor	neoplasm of mature T-cells or NK-cells
EFO:0002427	\N	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0002427	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	65258	\N	\N	EFO	0	EFO	myeloid neoplasm	myeloid neoplasm
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0002427	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	206239	\N	\N	EFO	1	EFO	lymphoid neoplasm	myeloid neoplasm
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002427	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	559342	\N	\N	EFO	2	EFO	cancer	myeloid neoplasm
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0002427	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	559343	\N	\N	EFO	2	EFO	hematological system disease	myeloid neoplasm
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002427	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	1141328	\N	\N	EFO	3	EFO	neoplasm	myeloid neoplasm
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002427	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	1141329	\N	\N	EFO	3	EFO	disease	myeloid neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002427	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	2024277	\N	\N	EFO	4	EFO	disease	myeloid neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002427	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	3177445	\N	\N	EFO	5	EFO	disposition	myeloid neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002427	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	4132577	\N	\N	EFO	6	EFO	material property	myeloid neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002427	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	5180920	\N	\N	EFO	7	EFO	experimental factor	myeloid neoplasm
EFO:0002428	\N	\N	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	EFO:0002428	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	65259	\N	\N	EFO	0	EFO	chronic myeloproliferative disorder	chronic myeloproliferative disorder
EFO:0002427	EFO:0002428	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0002428	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	206240	\N	\N	EFO	1	EFO	myeloid neoplasm	chronic myeloproliferative disorder
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0002428	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	559344	\N	\N	EFO	2	EFO	lymphoid neoplasm	chronic myeloproliferative disorder
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002428	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	1141330	\N	\N	EFO	3	EFO	cancer	chronic myeloproliferative disorder
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0002428	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	1141331	\N	\N	EFO	3	EFO	hematological system disease	chronic myeloproliferative disorder
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002428	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	2024279	\N	\N	EFO	4	EFO	neoplasm	chronic myeloproliferative disorder
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002428	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	2024280	\N	\N	EFO	4	EFO	disease	chronic myeloproliferative disorder
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002428	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	3177447	\N	\N	EFO	5	EFO	disease	chronic myeloproliferative disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002428	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	4387747	\N	\N	EFO	6	EFO	disposition	chronic myeloproliferative disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002428	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	5180921	\N	\N	EFO	7	EFO	material property	chronic myeloproliferative disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002428	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	5996569	\N	\N	EFO	8	EFO	experimental factor	chronic myeloproliferative disorder
EFO:0002429	\N	\N	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	65260	\N	\N	EFO	0	EFO	polycythemia vera	polycythemia vera
EFO:0002428	EFO:0002429	\N	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	206241	\N	\N	EFO	1	EFO	chronic myeloproliferative disorder	polycythemia vera
EFO:0005804	EFO:0002429	\N	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	206242	\N	\N	EFO	1	EFO	polycythemia	polycythemia vera
EFO:0002427	EFO:0002428	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	559345	\N	\N	EFO	2	EFO	myeloid neoplasm	polycythemia vera
EFO:0005803	EFO:0005804	\N	"Disorders of the blood and blood forming tissues." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	559346	\N	\N	EFO	2	EFO	hematological system disease	polycythemia vera
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	1141332	\N	\N	EFO	3	EFO	lymphoid neoplasm	polycythemia vera
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	3177450	\N	\N	EFO	5	EFO	disease	polycythemia vera
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	2024281	\N	\N	EFO	4	EFO	cancer	polycythemia vera
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	2024282	\N	\N	EFO	4	EFO	hematological system disease	polycythemia vera
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	5408602	\N	\N	EFO	7	EFO	disposition	polycythemia vera
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	3177449	\N	\N	EFO	5	EFO	neoplasm	polycythemia vera
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	5817352	\N	\N	EFO	8	EFO	material property	polycythemia vera
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	4387749	\N	\N	EFO	6	EFO	disease	polycythemia vera
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002429	"\\"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..\\n\\nThis is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.\\"" []	6409737	\N	\N	EFO	9	EFO	experimental factor	polycythemia vera
EFO:0002430	\N	\N	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	65261	\N	\N	EFO	0	EFO	primary myelofibrosis	primary myelofibrosis
EFO:0002428	EFO:0002430	\N	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	206243	\N	\N	EFO	1	EFO	chronic myeloproliferative disorder	primary myelofibrosis
EFO:0002461	EFO:0002430	\N	"Any disease which affects part of the skeletal system." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	206244	\N	\N	EFO	1	EFO	skeletal system disease	primary myelofibrosis
EFO:0006890	EFO:0002430	\N	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	206245	\N	\N	EFO	1	EFO	fibrosis	primary myelofibrosis
EFO:0002427	EFO:0002428	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	559347	\N	\N	EFO	2	EFO	myeloid neoplasm	primary myelofibrosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	559348	\N	\N	EFO	2	EFO	disease	primary myelofibrosis
EFO:0000616	EFO:0006890	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	559349	\N	\N	EFO	2	EFO	neoplasm	primary myelofibrosis
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	1141334	\N	\N	EFO	3	EFO	lymphoid neoplasm	primary myelofibrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	5028328	\N	\N	EFO	7	EFO	disposition	primary myelofibrosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	4387751	\N	\N	EFO	6	EFO	disease	primary myelofibrosis
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	2024284	\N	\N	EFO	4	EFO	cancer	primary myelofibrosis
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	2024285	\N	\N	EFO	4	EFO	hematological system disease	primary myelofibrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	5801808	\N	\N	EFO	8	EFO	material property	primary myelofibrosis
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	3177452	\N	\N	EFO	5	EFO	neoplasm	primary myelofibrosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	3177453	\N	\N	EFO	5	EFO	disease	primary myelofibrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002430	"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis." []	6378770	\N	\N	EFO	9	EFO	experimental factor	primary myelofibrosis
EFO:0002431	\N	\N	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	EFO:0002431	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	65262	\N	\N	EFO	0	EFO	tumour of cranial and spinal nerves	tumour of cranial and spinal nerves
EFO:0000311	EFO:0002431	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002431	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	206246	\N	\N	EFO	1	EFO	cancer	tumour of cranial and spinal nerves
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002431	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	559350	\N	\N	EFO	2	EFO	neoplasm	tumour of cranial and spinal nerves
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002431	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	1141337	\N	\N	EFO	3	EFO	disease	tumour of cranial and spinal nerves
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002431	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	2024288	\N	\N	EFO	4	EFO	disposition	tumour of cranial and spinal nerves
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002431	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	3177455	\N	\N	EFO	5	EFO	material property	tumour of cranial and spinal nerves
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002431	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	4387753	\N	\N	EFO	6	EFO	experimental factor	tumour of cranial and spinal nerves
EFO:0002433	\N	\N	"" []	EFO:0002433	"" []	65263	\N	\N	EFO	0	EFO	cumulus-oocyte complex	cumulus-oocyte complex
EFO:0002962	EFO:0002433	\N	"" []	EFO:0002433	"" []	206247	\N	\N	EFO	1	EFO	animal reproductive system cell	cumulus-oocyte complex
EFO:0002955	EFO:0002962	\N	"" []	EFO:0002433	"" []	559351	\N	\N	EFO	2	EFO	reproductive system cell	cumulus-oocyte complex
EFO:0000324	EFO:0002955	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002433	"" []	1141338	\N	\N	EFO	3	EFO	cell type	cumulus-oocyte complex
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002433	"" []	2024289	\N	\N	EFO	4	EFO	material entity	cumulus-oocyte complex
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002433	"" []	3177456	\N	\N	EFO	5	EFO	experimental factor	cumulus-oocyte complex
EFO:0002439	\N	\N	"" []	EFO:0002439	"" []	65264	\N	\N	EFO	0	EFO	mesophyll cell	mesophyll cell
EFO:0000324	EFO:0002439	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002439	"" []	206248	\N	\N	EFO	1	EFO	cell type	mesophyll cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002439	"" []	559352	\N	\N	EFO	2	EFO	material entity	mesophyll cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002439	"" []	1141339	\N	\N	EFO	3	EFO	experimental factor	mesophyll cell
EFO:0002451	\N	\N	"A convenient source of human endothelial cells are those that line the large vein in the umbilical cord which is usually discarded together with the placenta after childbirth. The cells can be removed as a fairly pure suspension by mild enzymatic treatment of the vein followed by some mechanical distraction and will grow relatively easily in culture, retaining their differentiated characteristics for several passages." []	EFO:0002451	"A convenient source of human endothelial cells are those that line the large vein in the umbilical cord which is usually discarded together with the placenta after childbirth. The cells can be removed as a fairly pure suspension by mild enzymatic treatment of the vein followed by some mechanical distraction and will grow relatively easily in culture, retaining their differentiated characteristics for several passages." []	65265	\N	\N	EFO	0	EFO	HUVEC cell	HUVEC cell
CL:0000115	EFO:0002451	\N	"The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart." []	EFO:0002451	"A convenient source of human endothelial cells are those that line the large vein in the umbilical cord which is usually discarded together with the placenta after childbirth. The cells can be removed as a fairly pure suspension by mild enzymatic treatment of the vein followed by some mechanical distraction and will grow relatively easily in culture, retaining their differentiated characteristics for several passages." []	206249	\N	\N	EFO	1	EFO	endothelial cell	HUVEC cell
EFO:0000324	CL:0000115	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002451	"A convenient source of human endothelial cells are those that line the large vein in the umbilical cord which is usually discarded together with the placenta after childbirth. The cells can be removed as a fairly pure suspension by mild enzymatic treatment of the vein followed by some mechanical distraction and will grow relatively easily in culture, retaining their differentiated characteristics for several passages." []	559353	\N	\N	EFO	2	EFO	cell type	HUVEC cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002451	"A convenient source of human endothelial cells are those that line the large vein in the umbilical cord which is usually discarded together with the placenta after childbirth. The cells can be removed as a fairly pure suspension by mild enzymatic treatment of the vein followed by some mechanical distraction and will grow relatively easily in culture, retaining their differentiated characteristics for several passages." []	1141340	\N	\N	EFO	3	EFO	material entity	HUVEC cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002451	"A convenient source of human endothelial cells are those that line the large vein in the umbilical cord which is usually discarded together with the placenta after childbirth. The cells can be removed as a fairly pure suspension by mild enzymatic treatment of the vein followed by some mechanical distraction and will grow relatively easily in culture, retaining their differentiated characteristics for several passages." []	2024290	\N	\N	EFO	4	EFO	experimental factor	HUVEC cell
EFO:0002460	\N	\N	"Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells." []	EFO:0002460	"Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells." []	65266	\N	\N	EFO	0	EFO	hypertrophy	hypertrophy
EFO:0000651	EFO:0002460	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0002460	"Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells." []	206250	\N	\N	EFO	1	EFO	phenotype	hypertrophy
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0002460	"Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells." []	559354	\N	\N	EFO	2	EFO	quality	hypertrophy
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002460	"Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells." []	1141341	\N	\N	EFO	3	EFO	material property	hypertrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002460	"Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells." []	2024291	\N	\N	EFO	4	EFO	experimental factor	hypertrophy
EFO:0002461	\N	\N	"Any disease which affects part of the skeletal system." []	EFO:0002461	"Any disease which affects part of the skeletal system." []	65267	\N	\N	EFO	0	EFO	skeletal system disease	skeletal system disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002461	"Any disease which affects part of the skeletal system." []	206251	\N	\N	EFO	1	EFO	disease	skeletal system disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002461	"Any disease which affects part of the skeletal system." []	559355	\N	\N	EFO	2	EFO	disposition	skeletal system disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002461	"Any disease which affects part of the skeletal system." []	1141342	\N	\N	EFO	3	EFO	material property	skeletal system disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002461	"Any disease which affects part of the skeletal system." []	2024292	\N	\N	EFO	4	EFO	experimental factor	skeletal system disease
EFO:0002462	\N	\N	"" []	EFO:0002462	"" []	65268	\N	\N	EFO	0	EFO	foetal structure	foetal structure
EFO:0000787	EFO:0002462	\N	"" []	EFO:0002462	"" []	206252	\N	\N	EFO	1	EFO	animal component	foetal structure
EFO:0000786	EFO:0000787	\N	"" []	EFO:0002462	"" []	559356	\N	\N	EFO	2	EFO	anatomy basic component	foetal structure
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0002462	"" []	1141343	\N	\N	EFO	3	EFO	organism part	foetal structure
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002462	"" []	2024293	\N	\N	EFO	4	EFO	material entity	foetal structure
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002462	"" []	3177457	\N	\N	EFO	5	EFO	experimental factor	foetal structure
EFO:0002473	\N	\N	"The area of the plant from where the stamen is shed." []	EFO:0002473	"The area of the plant from where the stamen is shed." []	65269	\N	\N	EFO	0	EFO	stamen abscission zone	stamen abscission zone
EFO:0000998	EFO:0002473	\N	"" []	EFO:0002473	"The area of the plant from where the stamen is shed." []	206253	\N	\N	EFO	1	EFO	plant reproductive system structure	stamen abscission zone
EFO:0000789	EFO:0000998	\N	"" []	EFO:0002473	"The area of the plant from where the stamen is shed." []	559357	\N	\N	EFO	2	EFO	plant component	stamen abscission zone
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	EFO:0002473	"The area of the plant from where the stamen is shed." []	559358	\N	\N	EFO	2	EFO	plant anatomical entity	stamen abscission zone
EFO:0000786	EFO:0000789	\N	"" []	EFO:0002473	"The area of the plant from where the stamen is shed." []	1141344	\N	\N	EFO	3	EFO	anatomy basic component	stamen abscission zone
EFO:0000786	PO:0025131	\N	"" []	EFO:0002473	"The area of the plant from where the stamen is shed." []	1141345	\N	\N	EFO	3	EFO	anatomy basic component	stamen abscission zone
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0002473	"The area of the plant from where the stamen is shed." []	2024294	\N	\N	EFO	4	EFO	organism part	stamen abscission zone
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002473	"The area of the plant from where the stamen is shed." []	3177458	\N	\N	EFO	5	EFO	material entity	stamen abscission zone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002473	"The area of the plant from where the stamen is shed." []	4387754	\N	\N	EFO	6	EFO	experimental factor	stamen abscission zone
EFO:0002496	\N	\N	"An actinic keratosis (ak-TIN-ik ker-uh-TOE-sis) is a rough, scaly patch on your skin that develops from years of exposure to the sun. It's most commonly found on your face, lips, ears, back of your hands, forearms, scalp or neck. Also known as solar keratosis, an actinic keratosis enlarges slowly and usually causes no signs or symptoms other than a patch or small spot on your skin. These lesions take years to develop, usually first appearing in older adults. A small percentage of actinic keratosis lesions can eventually become skin cancer. You can reduce your risk of actinic keratosis by minimizing your sun exposure and protecting your skin from ultraviolet (UV) rays." []	EFO:0002496	"An actinic keratosis (ak-TIN-ik ker-uh-TOE-sis) is a rough, scaly patch on your skin that develops from years of exposure to the sun. It's most commonly found on your face, lips, ears, back of your hands, forearms, scalp or neck. Also known as solar keratosis, an actinic keratosis enlarges slowly and usually causes no signs or symptoms other than a patch or small spot on your skin. These lesions take years to develop, usually first appearing in older adults. A small percentage of actinic keratosis lesions can eventually become skin cancer. You can reduce your risk of actinic keratosis by minimizing your sun exposure and protecting your skin from ultraviolet (UV) rays." []	65270	\N	\N	EFO	0	EFO	actinic keratosis	actinic keratosis
EFO:0000701	EFO:0002496	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0002496	"An actinic keratosis (ak-TIN-ik ker-uh-TOE-sis) is a rough, scaly patch on your skin that develops from years of exposure to the sun. It's most commonly found on your face, lips, ears, back of your hands, forearms, scalp or neck. Also known as solar keratosis, an actinic keratosis enlarges slowly and usually causes no signs or symptoms other than a patch or small spot on your skin. These lesions take years to develop, usually first appearing in older adults. A small percentage of actinic keratosis lesions can eventually become skin cancer. You can reduce your risk of actinic keratosis by minimizing your sun exposure and protecting your skin from ultraviolet (UV) rays." []	206254	\N	\N	EFO	1	EFO	skin disease	actinic keratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002496	"An actinic keratosis (ak-TIN-ik ker-uh-TOE-sis) is a rough, scaly patch on your skin that develops from years of exposure to the sun. It's most commonly found on your face, lips, ears, back of your hands, forearms, scalp or neck. Also known as solar keratosis, an actinic keratosis enlarges slowly and usually causes no signs or symptoms other than a patch or small spot on your skin. These lesions take years to develop, usually first appearing in older adults. A small percentage of actinic keratosis lesions can eventually become skin cancer. You can reduce your risk of actinic keratosis by minimizing your sun exposure and protecting your skin from ultraviolet (UV) rays." []	559359	\N	\N	EFO	2	EFO	disease	actinic keratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002496	"An actinic keratosis (ak-TIN-ik ker-uh-TOE-sis) is a rough, scaly patch on your skin that develops from years of exposure to the sun. It's most commonly found on your face, lips, ears, back of your hands, forearms, scalp or neck. Also known as solar keratosis, an actinic keratosis enlarges slowly and usually causes no signs or symptoms other than a patch or small spot on your skin. These lesions take years to develop, usually first appearing in older adults. A small percentage of actinic keratosis lesions can eventually become skin cancer. You can reduce your risk of actinic keratosis by minimizing your sun exposure and protecting your skin from ultraviolet (UV) rays." []	1141346	\N	\N	EFO	3	EFO	disposition	actinic keratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002496	"An actinic keratosis (ak-TIN-ik ker-uh-TOE-sis) is a rough, scaly patch on your skin that develops from years of exposure to the sun. It's most commonly found on your face, lips, ears, back of your hands, forearms, scalp or neck. Also known as solar keratosis, an actinic keratosis enlarges slowly and usually causes no signs or symptoms other than a patch or small spot on your skin. These lesions take years to develop, usually first appearing in older adults. A small percentage of actinic keratosis lesions can eventually become skin cancer. You can reduce your risk of actinic keratosis by minimizing your sun exposure and protecting your skin from ultraviolet (UV) rays." []	2024295	\N	\N	EFO	4	EFO	material property	actinic keratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002496	"An actinic keratosis (ak-TIN-ik ker-uh-TOE-sis) is a rough, scaly patch on your skin that develops from years of exposure to the sun. It's most commonly found on your face, lips, ears, back of your hands, forearms, scalp or neck. Also known as solar keratosis, an actinic keratosis enlarges slowly and usually causes no signs or symptoms other than a patch or small spot on your skin. These lesions take years to develop, usually first appearing in older adults. A small percentage of actinic keratosis lesions can eventually become skin cancer. You can reduce your risk of actinic keratosis by minimizing your sun exposure and protecting your skin from ultraviolet (UV) rays." []	3177459	\N	\N	EFO	5	EFO	experimental factor	actinic keratosis
EFO:0002497	\N	\N	"Acute hypotension is a sudden drop in your BP that may be life-threatening." []	EFO:0002497	"Acute hypotension is a sudden drop in your BP that may be life-threatening." []	65271	\N	\N	EFO	0	EFO	acute hypotension	acute hypotension
EFO:0005251	EFO:0002497	\N	"Blood pressure that is abnormally low." []	EFO:0002497	"Acute hypotension is a sudden drop in your BP that may be life-threatening." []	206255	\N	\N	EFO	1	EFO	hypotension	acute hypotension
EFO:0000319	EFO:0005251	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0002497	"Acute hypotension is a sudden drop in your BP that may be life-threatening." []	559360	\N	\N	EFO	2	EFO	cardiovascular disease	acute hypotension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002497	"Acute hypotension is a sudden drop in your BP that may be life-threatening." []	1141347	\N	\N	EFO	3	EFO	disease	acute hypotension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002497	"Acute hypotension is a sudden drop in your BP that may be life-threatening." []	2024296	\N	\N	EFO	4	EFO	disposition	acute hypotension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002497	"Acute hypotension is a sudden drop in your BP that may be life-threatening." []	3177460	\N	\N	EFO	5	EFO	material property	acute hypotension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002497	"Acute hypotension is a sudden drop in your BP that may be life-threatening." []	4387755	\N	\N	EFO	6	EFO	experimental factor	acute hypotension
EFO:0002498	\N	\N	"Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." []	EFO:0002498	"Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." []	65272	\N	\N	EFO	0	EFO	aggressive insulitis	aggressive insulitis
EFO:0000540	EFO:0002498	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0002498	"Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." []	206256	\N	\N	EFO	1	EFO	immune system disease	aggressive insulitis
EFO:0001379	EFO:0002498	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0002498	"Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." []	206257	\N	\N	EFO	1	EFO	endocrine system disease	aggressive insulitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002498	"Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." []	559361	\N	\N	EFO	2	EFO	disease	aggressive insulitis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002498	"Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." []	559362	\N	\N	EFO	2	EFO	disease	aggressive insulitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002498	"Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." []	1141348	\N	\N	EFO	3	EFO	disposition	aggressive insulitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002498	"Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." []	2024297	\N	\N	EFO	4	EFO	material property	aggressive insulitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002498	"Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." []	3177461	\N	\N	EFO	5	EFO	experimental factor	aggressive insulitis
EFO:0002499	\N	\N	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	65273	\N	\N	EFO	0	EFO	anaplastic astrocytoma	anaplastic astrocytoma
EFO:0000272	EFO:0002499	\N	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	206258	\N	\N	EFO	1	EFO	astrocytoma	anaplastic astrocytoma
EFO:0005543	EFO:0000272	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	559363	\N	\N	EFO	2	EFO	glioma	anaplastic astrocytoma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	1141349	\N	\N	EFO	3	EFO	central nervous system cancer	anaplastic astrocytoma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	1141350	\N	\N	EFO	3	EFO	brain neoplasm	anaplastic astrocytoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	2024298	\N	\N	EFO	4	EFO	cancer	anaplastic astrocytoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	2024299	\N	\N	EFO	4	EFO	nervous system disease	anaplastic astrocytoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	2024300	\N	\N	EFO	4	EFO	neoplasm	anaplastic astrocytoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	2024301	\N	\N	EFO	4	EFO	brain disease	anaplastic astrocytoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	3177462	\N	\N	EFO	5	EFO	neoplasm	anaplastic astrocytoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	4387758	\N	\N	EFO	6	EFO	disease	anaplastic astrocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	4387756	\N	\N	EFO	6	EFO	disease	anaplastic astrocytoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	3177465	\N	\N	EFO	5	EFO	nervous system disease	anaplastic astrocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	5180922	\N	\N	EFO	7	EFO	disposition	anaplastic astrocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	5996570	\N	\N	EFO	8	EFO	material property	anaplastic astrocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002499	"A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" []	6550362	\N	\N	EFO	9	EFO	experimental factor	anaplastic astrocytoma
EFO:0002500	\N	\N	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	65274	\N	\N	EFO	0	EFO	anaplastic oligoastrocytoma	anaplastic oligoastrocytoma
EFO:0000630	EFO:0002500	\N	"A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	206259	\N	\N	EFO	1	EFO	oligoastrocytoma	anaplastic oligoastrocytoma
EFO:0000272	EFO:0000630	\N	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	559364	\N	\N	EFO	2	EFO	astrocytoma	anaplastic oligoastrocytoma
EFO:0005543	EFO:0000272	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	1141351	\N	\N	EFO	3	EFO	glioma	anaplastic oligoastrocytoma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	2024302	\N	\N	EFO	4	EFO	central nervous system cancer	anaplastic oligoastrocytoma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	2024303	\N	\N	EFO	4	EFO	brain neoplasm	anaplastic oligoastrocytoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	3177466	\N	\N	EFO	5	EFO	cancer	anaplastic oligoastrocytoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	3177467	\N	\N	EFO	5	EFO	nervous system disease	anaplastic oligoastrocytoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	3177468	\N	\N	EFO	5	EFO	neoplasm	anaplastic oligoastrocytoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	3177469	\N	\N	EFO	5	EFO	brain disease	anaplastic oligoastrocytoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	4387759	\N	\N	EFO	6	EFO	neoplasm	anaplastic oligoastrocytoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	5408606	\N	\N	EFO	7	EFO	disease	anaplastic oligoastrocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	5408604	\N	\N	EFO	7	EFO	disease	anaplastic oligoastrocytoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	4387762	\N	\N	EFO	6	EFO	nervous system disease	anaplastic oligoastrocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	5996571	\N	\N	EFO	8	EFO	disposition	anaplastic oligoastrocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	6550363	\N	\N	EFO	9	EFO	material property	anaplastic oligoastrocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002500	"An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." []	6888973	\N	\N	EFO	10	EFO	experimental factor	anaplastic oligoastrocytoma
EFO:0002501	\N	\N	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	65275	\N	\N	EFO	0	EFO	anaplastic oligodendroglioma	anaplastic oligodendroglioma
EFO:0000632	EFO:0002501	\N	"A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)" []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	206260	\N	\N	EFO	1	EFO	oligodendroglioma	anaplastic oligodendroglioma
EFO:0005543	EFO:0000632	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	559365	\N	\N	EFO	2	EFO	glioma	anaplastic oligodendroglioma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	1141352	\N	\N	EFO	3	EFO	central nervous system cancer	anaplastic oligodendroglioma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	1141353	\N	\N	EFO	3	EFO	brain neoplasm	anaplastic oligodendroglioma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	2024304	\N	\N	EFO	4	EFO	cancer	anaplastic oligodendroglioma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	2024305	\N	\N	EFO	4	EFO	nervous system disease	anaplastic oligodendroglioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	2024306	\N	\N	EFO	4	EFO	neoplasm	anaplastic oligodendroglioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	2024307	\N	\N	EFO	4	EFO	brain disease	anaplastic oligodendroglioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	3177470	\N	\N	EFO	5	EFO	neoplasm	anaplastic oligodendroglioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	4387765	\N	\N	EFO	6	EFO	disease	anaplastic oligodendroglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	4387763	\N	\N	EFO	6	EFO	disease	anaplastic oligodendroglioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	3177473	\N	\N	EFO	5	EFO	nervous system disease	anaplastic oligodendroglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	5180923	\N	\N	EFO	7	EFO	disposition	anaplastic oligodendroglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	5996572	\N	\N	EFO	8	EFO	material property	anaplastic oligodendroglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002501	"A malignant neoplasm of the central nervous system arising from oligodendrocytes, exhibiting poor differentiation (anaplasia).   \\n\\nA WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." []	6550364	\N	\N	EFO	9	EFO	experimental factor	anaplastic oligodendroglioma
EFO:0002502	\N	\N	"a benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic ?-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." []	EFO:0002502	"a benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic ?-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." []	65276	\N	\N	EFO	0	EFO	benign insulitis	benign insulitis
EFO:0000540	EFO:0002502	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0002502	"a benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic ?-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." []	206261	\N	\N	EFO	1	EFO	immune system disease	benign insulitis
EFO:0001379	EFO:0002502	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0002502	"a benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic ?-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." []	206262	\N	\N	EFO	1	EFO	endocrine system disease	benign insulitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002502	"a benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic ?-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." []	559366	\N	\N	EFO	2	EFO	disease	benign insulitis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002502	"a benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic ?-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." []	559367	\N	\N	EFO	2	EFO	disease	benign insulitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002502	"a benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic ?-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." []	1141354	\N	\N	EFO	3	EFO	disposition	benign insulitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002502	"a benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic ?-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." []	2024308	\N	\N	EFO	4	EFO	material property	benign insulitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002502	"a benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic ?-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." []	3177474	\N	\N	EFO	5	EFO	experimental factor	benign insulitis
EFO:0002503	\N	\N	"an increase in size of the cardiac tissue, not due to increased cell number" []	EFO:0002503	"an increase in size of the cardiac tissue, not due to increased cell number" []	65277	\N	\N	EFO	0	EFO	cardiac hypertrophy	cardiac hypertrophy
EFO:0002460	EFO:0002503	\N	"Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells." []	EFO:0002503	"an increase in size of the cardiac tissue, not due to increased cell number" []	206263	\N	\N	EFO	1	EFO	hypertrophy	cardiac hypertrophy
EFO:0000651	EFO:0002460	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0002503	"an increase in size of the cardiac tissue, not due to increased cell number" []	559368	\N	\N	EFO	2	EFO	phenotype	cardiac hypertrophy
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0002503	"an increase in size of the cardiac tissue, not due to increased cell number" []	1141355	\N	\N	EFO	3	EFO	quality	cardiac hypertrophy
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002503	"an increase in size of the cardiac tissue, not due to increased cell number" []	2024309	\N	\N	EFO	4	EFO	material property	cardiac hypertrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002503	"an increase in size of the cardiac tissue, not due to increased cell number" []	3177475	\N	\N	EFO	5	EFO	experimental factor	cardiac hypertrophy
EFO:0002504	\N	\N	"A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." []	EFO:0002504	"A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." []	65278	\N	\N	EFO	0	EFO	serous cystadenoma	serous cystadenoma
EFO:0000232	EFO:0002504	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:0002504	"A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." []	206264	\N	\N	EFO	1	EFO	adenoma	serous cystadenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0002504	"A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." []	559369	\N	\N	EFO	2	EFO	benign neoplasm	serous cystadenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002504	"A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." []	1141356	\N	\N	EFO	3	EFO	neoplasm	serous cystadenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002504	"A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." []	2024310	\N	\N	EFO	4	EFO	disease	serous cystadenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002504	"A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." []	3177476	\N	\N	EFO	5	EFO	disposition	serous cystadenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002504	"A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." []	4387766	\N	\N	EFO	6	EFO	material property	serous cystadenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002504	"A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." []	5408608	\N	\N	EFO	7	EFO	experimental factor	serous cystadenoma
EFO:0002506	\N	\N	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	65279	\N	\N	EFO	0	EFO	osteoarthritis	osteoarthritis
EFO:0005802	EFO:0002506	\N	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	206265	\N	\N	EFO	1	EFO	cartilage disease	osteoarthritis
EFO:0005856	EFO:0002506	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	206266	\N	\N	EFO	1	EFO	arthritis	osteoarthritis
EFO:0002461	EFO:0005802	\N	"Any disease which affects part of the skeletal system." []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	559370	\N	\N	EFO	2	EFO	skeletal system disease	osteoarthritis
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	559371	\N	\N	EFO	2	EFO	autoimmune disease	osteoarthritis
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	559372	\N	\N	EFO	2	EFO	rheumatic disease	osteoarthritis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	2024313	\N	\N	EFO	4	EFO	disease	osteoarthritis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	1141358	\N	\N	EFO	3	EFO	immune system disease	osteoarthritis
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	1141359	\N	\N	EFO	3	EFO	skeletal system disease	osteoarthritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	2999459	\N	\N	EFO	5	EFO	disposition	osteoarthritis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	2024312	\N	\N	EFO	4	EFO	disease	osteoarthritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	4132579	\N	\N	EFO	6	EFO	material property	osteoarthritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002506	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	5180924	\N	\N	EFO	7	EFO	experimental factor	osteoarthritis
EFO:0002507	\N	\N	"A benign adenoma of ovary" []	EFO:0002507	"A benign adenoma of ovary" []	65280	\N	\N	EFO	0	EFO	ovarian adenoma benign	ovarian adenoma benign
EFO:0000232	EFO:0002507	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:0002507	"A benign adenoma of ovary" []	206267	\N	\N	EFO	1	EFO	adenoma	ovarian adenoma benign
EFO:0003893	EFO:0002507	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0002507	"A benign adenoma of ovary" []	206268	\N	\N	EFO	1	EFO	ovarian neoplasm	ovarian adenoma benign
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0002507	"A benign adenoma of ovary" []	559373	\N	\N	EFO	2	EFO	benign neoplasm	ovarian adenoma benign
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0002507	"A benign adenoma of ovary" []	559374	\N	\N	EFO	2	EFO	urogenital neoplasm	ovarian adenoma benign
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0002507	"A benign adenoma of ovary" []	559375	\N	\N	EFO	2	EFO	ovarian disease	ovarian adenoma benign
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002507	"A benign adenoma of ovary" []	1141360	\N	\N	EFO	3	EFO	neoplasm	ovarian adenoma benign
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002507	"A benign adenoma of ovary" []	1141361	\N	\N	EFO	3	EFO	neoplasm	ovarian adenoma benign
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0002507	"A benign adenoma of ovary" []	1141362	\N	\N	EFO	3	EFO	reproductive system disease	ovarian adenoma benign
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002507	"A benign adenoma of ovary" []	2024314	\N	\N	EFO	4	EFO	disease	ovarian adenoma benign
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002507	"A benign adenoma of ovary" []	2024315	\N	\N	EFO	4	EFO	disease	ovarian adenoma benign
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002507	"A benign adenoma of ovary" []	3177478	\N	\N	EFO	5	EFO	disposition	ovarian adenoma benign
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002507	"A benign adenoma of ovary" []	4387768	\N	\N	EFO	6	EFO	material property	ovarian adenoma benign
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002507	"A benign adenoma of ovary" []	5408609	\N	\N	EFO	7	EFO	experimental factor	ovarian adenoma benign
EFO:0002508	\N	\N	"A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)" []	EFO:0002508	"A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)" []	65281	\N	\N	EFO	0	EFO	Parkinson's disease	Parkinson's disease
EFO:0005772	EFO:0002508	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:0002508	"A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)" []	206269	\N	\N	EFO	1	EFO	neurodegenerative disease	Parkinson's disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0002508	"A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)" []	559376	\N	\N	EFO	2	EFO	nervous system disease	Parkinson's disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002508	"A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)" []	1141363	\N	\N	EFO	3	EFO	disease	Parkinson's disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002508	"A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)" []	2024316	\N	\N	EFO	4	EFO	disposition	Parkinson's disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002508	"A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)" []	3177479	\N	\N	EFO	5	EFO	material property	Parkinson's disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002508	"A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)" []	4387769	\N	\N	EFO	6	EFO	experimental factor	Parkinson's disease
EFO:0002509	\N	\N	"Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia)." []	EFO:0002509	"Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia)." []	65282	\N	\N	EFO	0	EFO	progressive external ophthalmoplegia	progressive external ophthalmoplegia
EFO:0001058	EFO:0002509	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0002509	"Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia)." []	206270	\N	\N	EFO	1	EFO	sensory system disease	progressive external ophthalmoplegia
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0002509	"Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia)." []	559377	\N	\N	EFO	2	EFO	nervous system disease	progressive external ophthalmoplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002509	"Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia)." []	1141364	\N	\N	EFO	3	EFO	disease	progressive external ophthalmoplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002509	"Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia)." []	2024317	\N	\N	EFO	4	EFO	disposition	progressive external ophthalmoplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002509	"Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia)." []	3177480	\N	\N	EFO	5	EFO	material property	progressive external ophthalmoplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002509	"Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia)." []	4387770	\N	\N	EFO	6	EFO	experimental factor	progressive external ophthalmoplegia
EFO:0002510	\N	\N	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	65283	\N	\N	EFO	0	EFO	serous cystadenofibroma	serous cystadenofibroma
EFO:0002424	EFO:0002510	\N	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	206271	\N	\N	EFO	1	EFO	fibroma	serous cystadenofibroma
EFO:0003893	EFO:0002510	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	206272	\N	\N	EFO	1	EFO	ovarian neoplasm	serous cystadenofibroma
EFO:0002422	EFO:0002424	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	559378	\N	\N	EFO	2	EFO	benign neoplasm	serous cystadenofibroma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	559379	\N	\N	EFO	2	EFO	urogenital neoplasm	serous cystadenofibroma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	559380	\N	\N	EFO	2	EFO	ovarian disease	serous cystadenofibroma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	1141365	\N	\N	EFO	3	EFO	neoplasm	serous cystadenofibroma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	1141366	\N	\N	EFO	3	EFO	neoplasm	serous cystadenofibroma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	1141367	\N	\N	EFO	3	EFO	reproductive system disease	serous cystadenofibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	2024318	\N	\N	EFO	4	EFO	disease	serous cystadenofibroma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	2024319	\N	\N	EFO	4	EFO	disease	serous cystadenofibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	3177481	\N	\N	EFO	5	EFO	disposition	serous cystadenofibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	4387771	\N	\N	EFO	6	EFO	material property	serous cystadenofibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002510	"A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." []	5408610	\N	\N	EFO	7	EFO	experimental factor	serous cystadenofibroma
EFO:0002511	\N	\N	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	65284	\N	\N	EFO	0	EFO	simple cystadenoma	simple cystadenoma
EFO:0000232	EFO:0002511	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	206273	\N	\N	EFO	1	EFO	adenoma	simple cystadenoma
EFO:0003893	EFO:0002511	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	206274	\N	\N	EFO	1	EFO	ovarian neoplasm	simple cystadenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	559381	\N	\N	EFO	2	EFO	benign neoplasm	simple cystadenoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	559382	\N	\N	EFO	2	EFO	urogenital neoplasm	simple cystadenoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	559383	\N	\N	EFO	2	EFO	ovarian disease	simple cystadenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	1141368	\N	\N	EFO	3	EFO	neoplasm	simple cystadenoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	1141369	\N	\N	EFO	3	EFO	neoplasm	simple cystadenoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	1141370	\N	\N	EFO	3	EFO	reproductive system disease	simple cystadenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	2024320	\N	\N	EFO	4	EFO	disease	simple cystadenoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	2024321	\N	\N	EFO	4	EFO	disease	simple cystadenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	3177482	\N	\N	EFO	5	EFO	disposition	simple cystadenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	4387772	\N	\N	EFO	6	EFO	material property	simple cystadenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002511	"A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." []	5408611	\N	\N	EFO	7	EFO	experimental factor	simple cystadenoma
EFO:0002517	\N	\N	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	65285	\N	\N	EFO	0	EFO	pancreatic ductal adenocarcinoma	pancreatic ductal adenocarcinoma
EFO:0000430	EFO:0002517	\N	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	206275	\N	\N	EFO	1	EFO	ductal adenocarcinoma	pancreatic ductal adenocarcinoma
EFO:0003860	EFO:0002517	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	206276	\N	\N	EFO	1	EFO	pancreatic neoplasm	pancreatic ductal adenocarcinoma
EFO:0000228	EFO:0000430	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	559384	\N	\N	EFO	2	EFO	adenocarcinoma	pancreatic ductal adenocarcinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	559385	\N	\N	EFO	2	EFO	endocrine neoplasm	pancreatic ductal adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	1141371	\N	\N	EFO	3	EFO	carcinoma	pancreatic ductal adenocarcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	1141372	\N	\N	EFO	3	EFO	neoplasm	pancreatic ductal adenocarcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	1141373	\N	\N	EFO	3	EFO	endocrine system disease	pancreatic ductal adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	2024322	\N	\N	EFO	4	EFO	cancer	pancreatic ductal adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	2024323	\N	\N	EFO	4	EFO	epithelial neoplasm	pancreatic ductal adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	4387773	\N	\N	EFO	6	EFO	disease	pancreatic ductal adenocarcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	2024325	\N	\N	EFO	4	EFO	disease	pancreatic ductal adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	3177483	\N	\N	EFO	5	EFO	neoplasm	pancreatic ductal adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	3177484	\N	\N	EFO	5	EFO	neoplasm	pancreatic ductal adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	5059318	\N	\N	EFO	7	EFO	disposition	pancreatic ductal adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	5876524	\N	\N	EFO	8	EFO	material property	pancreatic ductal adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002517	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	6469818	\N	\N	EFO	9	EFO	experimental factor	pancreatic ductal adenocarcinoma
EFO:0002518	\N	\N	"" []	EFO:0002518	"" []	65286	\N	\N	EFO	0	EFO	raphe magnus	raphe magnus
UBERON:0000955	\N	\N	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	EFO:0002518	"" []	194560	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	EFO	0	EFO	brain	raphe magnus
EFO:0002519	\N	\N	"" []	EFO:0002519	"" []	65287	\N	\N	EFO	0	EFO	vegetative apex	vegetative apex
EFO:0000789	EFO:0002519	\N	"" []	EFO:0002519	"" []	206277	\N	\N	EFO	1	EFO	plant component	vegetative apex
PO:0025131	EFO:0002519	\N	"An anatomical entity that is or was part of a plant." []	EFO:0002519	"" []	206278	\N	\N	EFO	1	EFO	plant anatomical entity	vegetative apex
EFO:0000786	EFO:0000789	\N	"" []	EFO:0002519	"" []	559386	\N	\N	EFO	2	EFO	anatomy basic component	vegetative apex
EFO:0000786	PO:0025131	\N	"" []	EFO:0002519	"" []	559387	\N	\N	EFO	2	EFO	anatomy basic component	vegetative apex
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0002519	"" []	1141374	\N	\N	EFO	3	EFO	organism part	vegetative apex
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002519	"" []	2024326	\N	\N	EFO	4	EFO	material entity	vegetative apex
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002519	"" []	3177486	\N	\N	EFO	5	EFO	experimental factor	vegetative apex
EFO:0002520	\N	\N	"" []	EFO:0002520	"" []	65288	\N	\N	EFO	0	EFO	neurointermediate lobe	neurointermediate lobe
UBERON:0000955	\N	\N	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	EFO:0002520	"" []	194561	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	EFO	0	EFO	brain	neurointermediate lobe
EFO:0002522	\N	\N	"" []	EFO:0002522	"" []	65289	\N	\N	EFO	0	EFO	BTBR mouse	BTBR mouse
NCBITaxon:10090	\N	\N	"" []	EFO:0002522	"" []	194562	\N	\N	EFO	0	EFO	Mus musculus	BTBR mouse
EFO:0002528	\N	\N	"" []	EFO:0002528	"" []	65290	\N	\N	EFO	0	EFO	substantia nigra and ventral tegmental area	substantia nigra and ventral tegmental area
UBERON:0002038	\N	\N	"Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons[FMA]." [FMA:67947, Wikipedia:Substantia_nigra]	EFO:0002528	"" []	194563	\N	efo_slim,uberon_slim	EFO	0	EFO	substantia nigra	substantia nigra and ventral tegmental area
EFO:0002529	\N	\N	"Pancreatic beta -cell line of rat origin." []	EFO:0002529	"Pancreatic beta -cell line of rat origin." []	65291	\N	\N	EFO	0	EFO	INS-1	INS-1
EFO:0002936	EFO:0002529	\N	"Cell lines derived from rats." []	EFO:0002529	"Pancreatic beta -cell line of rat origin." []	206279	\N	\N	EFO	1	EFO	rat cell line	INS-1
EFO:0000322	EFO:0002936	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002529	"Pancreatic beta -cell line of rat origin." []	559388	\N	\N	EFO	2	EFO	cell line	INS-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002529	"Pancreatic beta -cell line of rat origin." []	1141375	\N	\N	EFO	3	EFO	material entity	INS-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002529	"Pancreatic beta -cell line of rat origin." []	2024327	\N	\N	EFO	4	EFO	experimental factor	INS-1
EFO:0002534	\N	\N	"" []	EFO:0002534	"" []	65292	\N	\N	EFO	0	EFO	fetal blood cell	fetal blood cell
CL:0000081	EFO:0002534	\N	"A cell found predominately in the blood." []	EFO:0002534	"" []	206280	\N	\N	EFO	1	EFO	blood cell	fetal blood cell
CL:0000988	CL:0000081	\N	"A cell of a hematopoietic lineage." []	EFO:0002534	"" []	559389	\N	\N	EFO	2	EFO	hematopoietic cell	fetal blood cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002534	"" []	1141376	\N	\N	EFO	3	EFO	cell type	fetal blood cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002534	"" []	2024328	\N	\N	EFO	4	EFO	material entity	fetal blood cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002534	"" []	3177487	\N	\N	EFO	5	EFO	experimental factor	fetal blood cell
EFO:0002540	\N	\N	"" []	EFO:0002540	"" []	65293	\N	\N	EFO	0	EFO	nestin positive islet-derived progenitor cell	nestin positive islet-derived progenitor cell
EFO:0002966	EFO:0002540	\N	"" []	EFO:0002540	"" []	206281	\N	\N	EFO	1	EFO	pancreatic cell	nestin positive islet-derived progenitor cell
EFO:0000324	EFO:0002966	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002540	"" []	559390	\N	\N	EFO	2	EFO	cell type	nestin positive islet-derived progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002540	"" []	1141377	\N	\N	EFO	3	EFO	material entity	nestin positive islet-derived progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002540	"" []	2024329	\N	\N	EFO	4	EFO	experimental factor	nestin positive islet-derived progenitor cell
EFO:0002543	\N	\N	"" []	EFO:0002543	"" []	65294	\N	\N	EFO	0	EFO	mouse prenatal	mouse prenatal
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002543	"" []	206282	\N	\N	EFO	1	EFO	developmental stage	mouse prenatal
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002543	"" []	559391	\N	\N	EFO	2	EFO	process	mouse prenatal
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002543	"" []	1141378	\N	\N	EFO	3	EFO	experimental factor	mouse prenatal
EFO:0002544	\N	\N	"The distinct stages of the life cycle of a protozoon of the genus Plasmodium." []	EFO:0002544	"The distinct stages of the life cycle of a protozoon of the genus Plasmodium." []	65295	\N	\N	EFO	0	EFO	plasmodium parasite stage	plasmodium parasite stage
EFO:0000399	EFO:0002544	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002544	"The distinct stages of the life cycle of a protozoon of the genus Plasmodium." []	206283	\N	\N	EFO	1	EFO	developmental stage	plasmodium parasite stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002544	"The distinct stages of the life cycle of a protozoon of the genus Plasmodium." []	559392	\N	\N	EFO	2	EFO	process	plasmodium parasite stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002544	"The distinct stages of the life cycle of a protozoon of the genus Plasmodium." []	1141379	\N	\N	EFO	3	EFO	experimental factor	plasmodium parasite stage
EFO:0002546	\N	\N	"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose." []	EFO:0002546	"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose." []	65296	\N	\N	EFO	0	EFO	abnormal glucose tolerance	abnormal glucose tolerance
HP:0011014	\N	\N	"Abnormality of glucose homeostasis." [HPO:probinson]	EFO:0002546	"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose." []	194564	\N	\N	EFO	0	EFO	Abnormal glucose homeostasis	abnormal glucose tolerance
EFO:0002547	\N	\N	"" []	EFO:0002547	"" []	65297	\N	\N	EFO	0	EFO	NOD mouse	NOD mouse
NCBITaxon:10090	\N	\N	"" []	EFO:0002547	"" []	194565	\N	\N	EFO	0	EFO	Mus musculus	NOD mouse
EFO:0002557	\N	\N	"" []	EFO:0002557	"" []	65298	\N	\N	EFO	0	EFO	pancreatic mesenchyme	pancreatic mesenchyme
UBERON:6007435	EFO:0002557	\N	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	EFO:0002557	"" []	206284	\N	\N	EFO	1	EFO	endocrine system component	pancreatic mesenchyme
EFO:0000787	UBERON:6007435	\N	"" []	EFO:0002557	"" []	559393	\N	\N	EFO	2	EFO	animal component	pancreatic mesenchyme
EFO:0000786	EFO:0000787	\N	"" []	EFO:0002557	"" []	1141380	\N	\N	EFO	3	EFO	anatomy basic component	pancreatic mesenchyme
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0002557	"" []	2024330	\N	\N	EFO	4	EFO	organism part	pancreatic mesenchyme
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002557	"" []	3177488	\N	\N	EFO	5	EFO	material entity	pancreatic mesenchyme
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002557	"" []	4387775	\N	\N	EFO	6	EFO	experimental factor	pancreatic mesenchyme
EFO:0002560	\N	\N	"" []	EFO:0002560	"" []	65299	\N	\N	EFO	0	EFO	gastrula 80%-epiboly	gastrula 80%-epiboly
UBERON:0000109	\N	\N	"A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." [GO:0007369]	EFO:0002560	"" []	194566	\N	efo_slim	EFO	0	EFO	gastrula stage	gastrula 80%-epiboly
EFO:0002561	\N	\N	"" []	EFO:0002561	"" []	65300	\N	\N	EFO	0	EFO	embryonic day 8.25	embryonic day 8.25
EFO:0005857	EFO:0002561	\N	"An embryo stage for the mouse species." []	EFO:0002561	"" []	206285	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 8.25
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0002561	"" []	559394	\N	\N	EFO	2	EFO	embryo stage	embryonic day 8.25
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002561	"" []	1141381	\N	\N	EFO	3	EFO	developmental stage	embryonic day 8.25
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002561	"" []	2024331	\N	\N	EFO	4	EFO	process	embryonic day 8.25
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002561	"" []	3177489	\N	\N	EFO	5	EFO	experimental factor	embryonic day 8.25
EFO:0002562	\N	\N	"mouse embryo stage at age 11.5 days" []	EFO:0002562	"mouse embryo stage at age 11.5 days" []	65301	\N	\N	EFO	0	EFO	embryonic day 11.5	embryonic day 11.5
EFO:0005857	EFO:0002562	\N	"An embryo stage for the mouse species." []	EFO:0002562	"mouse embryo stage at age 11.5 days" []	206286	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 11.5
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0002562	"mouse embryo stage at age 11.5 days" []	559395	\N	\N	EFO	2	EFO	embryo stage	embryonic day 11.5
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002562	"mouse embryo stage at age 11.5 days" []	1141382	\N	\N	EFO	3	EFO	developmental stage	embryonic day 11.5
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002562	"mouse embryo stage at age 11.5 days" []	2024332	\N	\N	EFO	4	EFO	process	embryonic day 11.5
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002562	"mouse embryo stage at age 11.5 days" []	3177490	\N	\N	EFO	5	EFO	experimental factor	embryonic day 11.5
EFO:0002563	\N	\N	"mouse embryo stage at age 12.5 days" []	EFO:0002563	"mouse embryo stage at age 12.5 days" []	65302	\N	\N	EFO	0	EFO	embryonic day 12.5	embryonic day 12.5
EFO:0005857	EFO:0002563	\N	"An embryo stage for the mouse species." []	EFO:0002563	"mouse embryo stage at age 12.5 days" []	206287	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 12.5
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0002563	"mouse embryo stage at age 12.5 days" []	559396	\N	\N	EFO	2	EFO	embryo stage	embryonic day 12.5
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002563	"mouse embryo stage at age 12.5 days" []	1141383	\N	\N	EFO	3	EFO	developmental stage	embryonic day 12.5
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002563	"mouse embryo stage at age 12.5 days" []	2024333	\N	\N	EFO	4	EFO	process	embryonic day 12.5
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002563	"mouse embryo stage at age 12.5 days" []	3177491	\N	\N	EFO	5	EFO	experimental factor	embryonic day 12.5
EFO:0002564	\N	\N	"mouse embryo stage at age 13.5 days" []	EFO:0002564	"mouse embryo stage at age 13.5 days" []	65303	\N	\N	EFO	0	EFO	embryonic day 13.5	embryonic day 13.5
EFO:0005857	EFO:0002564	\N	"An embryo stage for the mouse species." []	EFO:0002564	"mouse embryo stage at age 13.5 days" []	206288	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 13.5
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0002564	"mouse embryo stage at age 13.5 days" []	559397	\N	\N	EFO	2	EFO	embryo stage	embryonic day 13.5
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002564	"mouse embryo stage at age 13.5 days" []	1141384	\N	\N	EFO	3	EFO	developmental stage	embryonic day 13.5
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002564	"mouse embryo stage at age 13.5 days" []	2024334	\N	\N	EFO	4	EFO	process	embryonic day 13.5
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002564	"mouse embryo stage at age 13.5 days" []	3177492	\N	\N	EFO	5	EFO	experimental factor	embryonic day 13.5
EFO:0002565	\N	\N	"mouse embryo stage at age 14.5 days" []	EFO:0002565	"mouse embryo stage at age 14.5 days" []	65304	\N	\N	EFO	0	EFO	embryonic day 14.5	embryonic day 14.5
EFO:0005857	EFO:0002565	\N	"An embryo stage for the mouse species." []	EFO:0002565	"mouse embryo stage at age 14.5 days" []	206289	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 14.5
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0002565	"mouse embryo stage at age 14.5 days" []	559398	\N	\N	EFO	2	EFO	embryo stage	embryonic day 14.5
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002565	"mouse embryo stage at age 14.5 days" []	1141385	\N	\N	EFO	3	EFO	developmental stage	embryonic day 14.5
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002565	"mouse embryo stage at age 14.5 days" []	2024335	\N	\N	EFO	4	EFO	process	embryonic day 14.5
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002565	"mouse embryo stage at age 14.5 days" []	3177493	\N	\N	EFO	5	EFO	experimental factor	embryonic day 14.5
EFO:0002566	\N	\N	"mouse embryo stage at age 15.5 days" []	EFO:0002566	"mouse embryo stage at age 15.5 days" []	65305	\N	\N	EFO	0	EFO	embryonic day 15.5	embryonic day 15.5
EFO:0005857	EFO:0002566	\N	"An embryo stage for the mouse species." []	EFO:0002566	"mouse embryo stage at age 15.5 days" []	206290	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 15.5
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0002566	"mouse embryo stage at age 15.5 days" []	559399	\N	\N	EFO	2	EFO	embryo stage	embryonic day 15.5
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002566	"mouse embryo stage at age 15.5 days" []	1141386	\N	\N	EFO	3	EFO	developmental stage	embryonic day 15.5
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002566	"mouse embryo stage at age 15.5 days" []	2024336	\N	\N	EFO	4	EFO	process	embryonic day 15.5
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002566	"mouse embryo stage at age 15.5 days" []	3177494	\N	\N	EFO	5	EFO	experimental factor	embryonic day 15.5
EFO:0002567	\N	\N	"mouse embryo stage at age 16.5 days" []	EFO:0002567	"mouse embryo stage at age 16.5 days" []	65306	\N	\N	EFO	0	EFO	embryonic day 16.5	embryonic day 16.5
EFO:0005857	EFO:0002567	\N	"An embryo stage for the mouse species." []	EFO:0002567	"mouse embryo stage at age 16.5 days" []	206291	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 16.5
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0002567	"mouse embryo stage at age 16.5 days" []	559400	\N	\N	EFO	2	EFO	embryo stage	embryonic day 16.5
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002567	"mouse embryo stage at age 16.5 days" []	1141387	\N	\N	EFO	3	EFO	developmental stage	embryonic day 16.5
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002567	"mouse embryo stage at age 16.5 days" []	2024337	\N	\N	EFO	4	EFO	process	embryonic day 16.5
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002567	"mouse embryo stage at age 16.5 days" []	3177495	\N	\N	EFO	5	EFO	experimental factor	embryonic day 16.5
EFO:0002568	\N	\N	"mouse embryo stage at age 17.5 days" []	EFO:0002568	"mouse embryo stage at age 17.5 days" []	65307	\N	\N	EFO	0	EFO	embryonic day 17.5	embryonic day 17.5
EFO:0005857	EFO:0002568	\N	"An embryo stage for the mouse species." []	EFO:0002568	"mouse embryo stage at age 17.5 days" []	206292	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 17.5
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0002568	"mouse embryo stage at age 17.5 days" []	559401	\N	\N	EFO	2	EFO	embryo stage	embryonic day 17.5
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002568	"mouse embryo stage at age 17.5 days" []	1141388	\N	\N	EFO	3	EFO	developmental stage	embryonic day 17.5
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002568	"mouse embryo stage at age 17.5 days" []	2024338	\N	\N	EFO	4	EFO	process	embryonic day 17.5
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002568	"mouse embryo stage at age 17.5 days" []	3177496	\N	\N	EFO	5	EFO	experimental factor	embryonic day 17.5
EFO:0002569	\N	\N	"mouse embryo stage at age 18 days" []	EFO:0002569	"mouse embryo stage at age 18 days" []	65308	\N	\N	EFO	0	EFO	embryonic day 18	embryonic day 18
EFO:0005857	EFO:0002569	\N	"An embryo stage for the mouse species." []	EFO:0002569	"mouse embryo stage at age 18 days" []	206293	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 18
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0002569	"mouse embryo stage at age 18 days" []	559402	\N	\N	EFO	2	EFO	embryo stage	embryonic day 18
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002569	"mouse embryo stage at age 18 days" []	1141389	\N	\N	EFO	3	EFO	developmental stage	embryonic day 18
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002569	"mouse embryo stage at age 18 days" []	2024339	\N	\N	EFO	4	EFO	process	embryonic day 18
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002569	"mouse embryo stage at age 18 days" []	3177497	\N	\N	EFO	5	EFO	experimental factor	embryonic day 18
EFO:0002570	\N	\N	"mouse embryo stage at age 18.5 days" []	EFO:0002570	"mouse embryo stage at age 18.5 days" []	65309	\N	\N	EFO	0	EFO	embryonic day 18.5	embryonic day 18.5
EFO:0005857	EFO:0002570	\N	"An embryo stage for the mouse species." []	EFO:0002570	"mouse embryo stage at age 18.5 days" []	206294	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 18.5
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0002570	"mouse embryo stage at age 18.5 days" []	559403	\N	\N	EFO	2	EFO	embryo stage	embryonic day 18.5
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002570	"mouse embryo stage at age 18.5 days" []	1141390	\N	\N	EFO	3	EFO	developmental stage	embryonic day 18.5
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002570	"mouse embryo stage at age 18.5 days" []	2024340	\N	\N	EFO	4	EFO	process	embryonic day 18.5
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002570	"mouse embryo stage at age 18.5 days" []	3177498	\N	\N	EFO	5	EFO	experimental factor	embryonic day 18.5
EFO:0002571	\N	\N	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	EFO:0002571	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	65310	\N	\N	EFO	0	EFO	medical procedure	medical procedure
EFO:0002694	EFO:0002571	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002571	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	206295	\N	\N	EFO	1	EFO	experimental process	medical procedure
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002571	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	559404	\N	\N	EFO	2	EFO	planned process	medical procedure
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002571	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	1141391	\N	\N	EFO	3	EFO	process	medical procedure
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002571	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	2024341	\N	\N	EFO	4	EFO	experimental factor	medical procedure
EFO:0002572	\N	\N	"" []	EFO:0002572	"" []	65311	\N	\N	EFO	0	EFO	large adipocyte	large adipocyte
CL:0000136	EFO:0002572	\N	"A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides." []	EFO:0002572	"" []	206296	\N	\N	EFO	1	EFO	fat cell	large adipocyte
EFO:0000324	CL:0000136	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002572	"" []	559405	\N	\N	EFO	2	EFO	cell type	large adipocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002572	"" []	1141392	\N	\N	EFO	3	EFO	material entity	large adipocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002572	"" []	2024342	\N	\N	EFO	4	EFO	experimental factor	large adipocyte
EFO:0002573	\N	\N	"" []	EFO:0002573	"" []	65312	\N	\N	EFO	0	EFO	small adipocyte	small adipocyte
CL:0000136	EFO:0002573	\N	"A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides." []	EFO:0002573	"" []	206297	\N	\N	EFO	1	EFO	fat cell	small adipocyte
EFO:0000324	CL:0000136	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002573	"" []	559406	\N	\N	EFO	2	EFO	cell type	small adipocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002573	"" []	1141393	\N	\N	EFO	3	EFO	material entity	small adipocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002573	"" []	2024343	\N	\N	EFO	4	EFO	experimental factor	small adipocyte
EFO:0002575	\N	\N	"" []	EFO:0002575	"" []	65313	\N	\N	EFO	0	EFO	esophageal endoderm	esophageal endoderm
UBERON:0000925	\N	\N	"Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut." [Wikipedia:Endoderm]	EFO:0002575	"" []	194567	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	endoderm	esophageal endoderm
EFO:0002576	\N	\N	"" []	EFO:0002576	"" []	65314	\N	\N	EFO	0	EFO	intestinal endoderm	intestinal endoderm
UBERON:0000925	\N	\N	"Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut." [Wikipedia:Endoderm]	EFO:0002576	"" []	194568	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	endoderm	intestinal endoderm
EFO:0002577	\N	\N	"" []	EFO:0002577	"" []	65315	\N	\N	EFO	0	EFO	liver endoderm	liver endoderm
UBERON:0000925	\N	\N	"Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut." [Wikipedia:Endoderm]	EFO:0002577	"" []	194569	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	endoderm	liver endoderm
EFO:0002578	\N	\N	"" []	EFO:0002578	"" []	65316	\N	\N	EFO	0	EFO	lung endoderm	lung endoderm
UBERON:0000925	\N	\N	"Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut." [Wikipedia:Endoderm]	EFO:0002578	"" []	194570	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	endoderm	lung endoderm
EFO:0002579	\N	\N	"" []	EFO:0002579	"" []	65317	\N	\N	EFO	0	EFO	pancreatic endoderm	pancreatic endoderm
UBERON:0000925	\N	\N	"Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut." [Wikipedia:Endoderm]	EFO:0002579	"" []	194571	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	endoderm	pancreatic endoderm
EFO:0002580	\N	\N	"" []	EFO:0002580	"" []	65318	\N	\N	EFO	0	EFO	stomach endoderm	stomach endoderm
UBERON:0000925	\N	\N	"Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut." [Wikipedia:Endoderm]	EFO:0002580	"" []	194572	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	endoderm	stomach endoderm
EFO:0002581	\N	\N	"Surgical removal of part or all of the pancreas." []	EFO:0002581	"Surgical removal of part or all of the pancreas." []	65319	\N	\N	EFO	0	EFO	pancreatectomy	pancreatectomy
EFO:0002571	EFO:0002581	\N	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	EFO:0002581	"Surgical removal of part or all of the pancreas." []	206298	\N	\N	EFO	1	EFO	medical procedure	pancreatectomy
EFO:0002694	EFO:0002571	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002581	"Surgical removal of part or all of the pancreas." []	559407	\N	\N	EFO	2	EFO	experimental process	pancreatectomy
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002581	"Surgical removal of part or all of the pancreas." []	1141394	\N	\N	EFO	3	EFO	planned process	pancreatectomy
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002581	"Surgical removal of part or all of the pancreas." []	2024344	\N	\N	EFO	4	EFO	process	pancreatectomy
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002581	"Surgical removal of part or all of the pancreas." []	3177499	\N	\N	EFO	5	EFO	experimental factor	pancreatectomy
EFO:0002582	\N	\N	"" []	EFO:0002582	"" []	65320	\N	\N	EFO	0	EFO	Theiler stage 11	Theiler stage 11
EFO:0002543	EFO:0002582	\N	"" []	EFO:0002582	"" []	206299	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 11
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002582	"" []	559408	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 11
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002582	"" []	1141395	\N	\N	EFO	3	EFO	process	Theiler stage 11
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002582	"" []	2024345	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 11
EFO:0002583	\N	\N	"" []	EFO:0002583	"" []	65321	\N	\N	EFO	0	EFO	Theiler stage 17	Theiler stage 17
EFO:0002543	EFO:0002583	\N	"" []	EFO:0002583	"" []	206300	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 17
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002583	"" []	559409	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 17
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002583	"" []	1141396	\N	\N	EFO	3	EFO	process	Theiler stage 17
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002583	"" []	2024346	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 17
EFO:0002584	\N	\N	"" []	EFO:0002584	"" []	65322	\N	\N	EFO	0	EFO	Theiler stage 21	Theiler stage 21
EFO:0002543	EFO:0002584	\N	"" []	EFO:0002584	"" []	206301	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 21
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002584	"" []	559410	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 21
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002584	"" []	1141397	\N	\N	EFO	3	EFO	process	Theiler stage 21
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002584	"" []	2024347	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 21
EFO:0002585	\N	\N	"" []	EFO:0002585	"" []	65323	\N	\N	EFO	0	EFO	Theiler stage 22	Theiler stage 22
EFO:0002543	EFO:0002585	\N	"" []	EFO:0002585	"" []	206302	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 22
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002585	"" []	559411	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 22
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002585	"" []	1141398	\N	\N	EFO	3	EFO	process	Theiler stage 22
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002585	"" []	2024348	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 22
EFO:0002586	\N	\N	"" []	EFO:0002586	"" []	65324	\N	\N	EFO	0	EFO	Theiler stage 24	Theiler stage 24
EFO:0002543	EFO:0002586	\N	"" []	EFO:0002586	"" []	206303	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 24
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002586	"" []	559412	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 24
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002586	"" []	1141399	\N	\N	EFO	3	EFO	process	Theiler stage 24
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002586	"" []	2024349	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 24
EFO:0002587	\N	\N	"" []	EFO:0002587	"" []	65325	\N	\N	EFO	0	EFO	Theiler stage 26	Theiler stage 26
EFO:0002543	EFO:0002587	\N	"" []	EFO:0002587	"" []	206304	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 26
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002587	"" []	559413	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 26
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002587	"" []	1141400	\N	\N	EFO	3	EFO	process	Theiler stage 26
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002587	"" []	2024350	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 26
EFO:0002588	\N	\N	"Theiler stage 28 is a mouse postnatal stage characterised by postnatal development after a mouse is newly born." []	EFO:0002588	"Theiler stage 28 is a mouse postnatal stage characterised by postnatal development after a mouse is newly born." []	65326	\N	\N	EFO	0	EFO	Theiler stage 28	Theiler stage 28
EFO:0004390	EFO:0002588	\N	"" []	EFO:0002588	"Theiler stage 28 is a mouse postnatal stage characterised by postnatal development after a mouse is newly born." []	206305	\N	\N	EFO	1	EFO	mouse postnatal	Theiler stage 28
EFO:0002948	EFO:0004390	\N	"The time period after birth." []	EFO:0002588	"Theiler stage 28 is a mouse postnatal stage characterised by postnatal development after a mouse is newly born." []	559414	\N	\N	EFO	2	EFO	postnatal	Theiler stage 28
EFO:0000399	EFO:0002948	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002588	"Theiler stage 28 is a mouse postnatal stage characterised by postnatal development after a mouse is newly born." []	1141401	\N	\N	EFO	3	EFO	developmental stage	Theiler stage 28
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002588	"Theiler stage 28 is a mouse postnatal stage characterised by postnatal development after a mouse is newly born." []	2024351	\N	\N	EFO	4	EFO	process	Theiler stage 28
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002588	"Theiler stage 28 is a mouse postnatal stage characterised by postnatal development after a mouse is newly born." []	3177500	\N	\N	EFO	5	EFO	experimental factor	Theiler stage 28
EFO:0002589	\N	\N	"A schizont produced in the liver of the vertebrate host." []	EFO:0002589	"A schizont produced in the liver of the vertebrate host." []	65327	\N	\N	EFO	0	EFO	hepatic schizont	hepatic schizont
EFO:0002544	EFO:0002589	\N	"The distinct stages of the life cycle of a protozoon of the genus Plasmodium." []	EFO:0002589	"A schizont produced in the liver of the vertebrate host." []	206306	\N	\N	EFO	1	EFO	plasmodium parasite stage	hepatic schizont
EFO:0000399	EFO:0002544	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002589	"A schizont produced in the liver of the vertebrate host." []	559415	\N	\N	EFO	2	EFO	developmental stage	hepatic schizont
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002589	"A schizont produced in the liver of the vertebrate host." []	1141402	\N	\N	EFO	3	EFO	process	hepatic schizont
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002589	"A schizont produced in the liver of the vertebrate host." []	2024352	\N	\N	EFO	4	EFO	experimental factor	hepatic schizont
EFO:0002590	\N	\N	"A developmental stage of the Plasmodium life cycle found within the erythrocyte, called such because of the shape observed." []	EFO:0002590	"A developmental stage of the Plasmodium life cycle found within the erythrocyte, called such because of the shape observed." []	65328	\N	\N	EFO	0	EFO	ring stage trophozoite	ring stage trophozoite
EFO:0002544	EFO:0002590	\N	"The distinct stages of the life cycle of a protozoon of the genus Plasmodium." []	EFO:0002590	"A developmental stage of the Plasmodium life cycle found within the erythrocyte, called such because of the shape observed." []	206307	\N	\N	EFO	1	EFO	plasmodium parasite stage	ring stage trophozoite
EFO:0000399	EFO:0002544	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002590	"A developmental stage of the Plasmodium life cycle found within the erythrocyte, called such because of the shape observed." []	559416	\N	\N	EFO	2	EFO	developmental stage	ring stage trophozoite
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002590	"A developmental stage of the Plasmodium life cycle found within the erythrocyte, called such because of the shape observed." []	1141403	\N	\N	EFO	3	EFO	process	ring stage trophozoite
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002590	"A developmental stage of the Plasmodium life cycle found within the erythrocyte, called such because of the shape observed." []	2024353	\N	\N	EFO	4	EFO	experimental factor	ring stage trophozoite
EFO:0002591	\N	\N	"The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites." []	EFO:0002591	"The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites." []	65329	\N	\N	EFO	0	EFO	erythrocytic schizont	erythrocytic schizont
EFO:0002544	EFO:0002591	\N	"The distinct stages of the life cycle of a protozoon of the genus Plasmodium." []	EFO:0002591	"The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites." []	206308	\N	\N	EFO	1	EFO	plasmodium parasite stage	erythrocytic schizont
EFO:0000399	EFO:0002544	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002591	"The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites." []	559417	\N	\N	EFO	2	EFO	developmental stage	erythrocytic schizont
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002591	"The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites." []	1141404	\N	\N	EFO	3	EFO	process	erythrocytic schizont
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002591	"The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites." []	2024354	\N	\N	EFO	4	EFO	experimental factor	erythrocytic schizont
EFO:0002592	\N	\N	"A developmental stage of the Plasmodium life cycle found within the erythrocyte." []	EFO:0002592	"A developmental stage of the Plasmodium life cycle found within the erythrocyte." []	65330	\N	\N	EFO	0	EFO	trophozoite	trophozoite
EFO:0002544	EFO:0002592	\N	"The distinct stages of the life cycle of a protozoon of the genus Plasmodium." []	EFO:0002592	"A developmental stage of the Plasmodium life cycle found within the erythrocyte." []	206309	\N	\N	EFO	1	EFO	plasmodium parasite stage	trophozoite
EFO:0000399	EFO:0002544	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002592	"A developmental stage of the Plasmodium life cycle found within the erythrocyte." []	559418	\N	\N	EFO	2	EFO	developmental stage	trophozoite
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002592	"A developmental stage of the Plasmodium life cycle found within the erythrocyte." []	1141405	\N	\N	EFO	3	EFO	process	trophozoite
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002592	"A developmental stage of the Plasmodium life cycle found within the erythrocyte." []	2024355	\N	\N	EFO	4	EFO	experimental factor	trophozoite
EFO:0002593	\N	\N	"" []	EFO:0002593	"" []	65331	\N	\N	EFO	0	EFO	distal renal artery	distal renal artery
UBERON:0001184	\N	\N	"One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates." [ISBN10:0073040584, Wikipedia:Renal_artery]	EFO:0002593	"" []	194573	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	renal artery	distal renal artery
EFO:0002594	\N	\N	"" []	EFO:0002594	"" []	65332	\N	\N	EFO	0	EFO	proximal renal artery	proximal renal artery
UBERON:0001184	\N	\N	"One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates." [ISBN10:0073040584, Wikipedia:Renal_artery]	EFO:0002594	"" []	194574	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	renal artery	proximal renal artery
EFO:0002605	\N	\N	"" []	EFO:0002605	"" []	65333	\N	\N	EFO	0	EFO	gene name	gene name
IAO:0000030	EFO:0002605	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002605	"" []	206310	\N	\N	EFO	1	EFO	information entity	gene name
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002605	"" []	559419	\N	\N	EFO	2	EFO	experimental factor	gene name
EFO:0002608	\N	\N	"A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." []	EFO:0002608	"A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." []	65334	\N	\N	EFO	0	EFO	AIDS dementia	AIDS dementia
HP:0000726	\N	\N	"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [HPO:probinson]	EFO:0002608	"A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." []	194575	\N	\N	EFO	0	EFO	Dementia	AIDS dementia
EFO:0007948	EFO:0002608	\N	"HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overall\\nprevalence of HAND is 3050% among unselected HIV-infected\\npersons." []	EFO:0002608	"A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." []	206311	\N	\N	EFO	1	EFO	HIV-associated neurocognitive disorder	AIDS dementia
EFO:0006843	EFO:0007948	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0002608	"A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." []	559420	\N	\N	EFO	2	EFO	infectious disease biomarker	AIDS dementia
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0002608	"A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." []	1141406	\N	\N	EFO	3	EFO	measurement	AIDS dementia
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002608	"A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." []	2024356	\N	\N	EFO	4	EFO	information entity	AIDS dementia
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002608	"A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." []	3177501	\N	\N	EFO	5	EFO	experimental factor	AIDS dementia
EFO:0002609	\N	\N	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	EFO:0002609	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	65335	\N	\N	EFO	0	EFO	chronic childhood arthritis	chronic childhood arthritis
EFO:0000685	EFO:0002609	\N	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	EFO:0002609	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	206312	\N	\N	EFO	1	EFO	rheumatoid arthritis	chronic childhood arthritis
EFO:0005856	EFO:0000685	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:0002609	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	559421	\N	\N	EFO	2	EFO	arthritis	chronic childhood arthritis
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0002609	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	1141407	\N	\N	EFO	3	EFO	autoimmune disease	chronic childhood arthritis
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0002609	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	1141408	\N	\N	EFO	3	EFO	rheumatic disease	chronic childhood arthritis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0002609	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	2024357	\N	\N	EFO	4	EFO	immune system disease	chronic childhood arthritis
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0002609	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	2024358	\N	\N	EFO	4	EFO	skeletal system disease	chronic childhood arthritis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002609	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	3177502	\N	\N	EFO	5	EFO	disease	chronic childhood arthritis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002609	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	3177503	\N	\N	EFO	5	EFO	disease	chronic childhood arthritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002609	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	4387776	\N	\N	EFO	6	EFO	disposition	chronic childhood arthritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002609	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	5408613	\N	\N	EFO	7	EFO	material property	chronic childhood arthritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002609	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	6147434	\N	\N	EFO	8	EFO	experimental factor	chronic childhood arthritis
EFO:0002610	\N	\N	"A drug dependence that is a psychological dependency on the regular use of cocaine." []	EFO:0002610	"A drug dependence that is a psychological dependency on the regular use of cocaine." []	65336	\N	\N	EFO	0	EFO	cocaine dependence	cocaine dependence
EFO:0003890	EFO:0002610	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0002610	"A drug dependence that is a psychological dependency on the regular use of cocaine." []	206313	\N	\N	EFO	1	EFO	drug dependence	cocaine dependence
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0002610	"A drug dependence that is a psychological dependency on the regular use of cocaine." []	559422	\N	\N	EFO	2	EFO	mental or behavioural disorder	cocaine dependence
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0002610	"A drug dependence that is a psychological dependency on the regular use of cocaine." []	1141409	\N	\N	EFO	3	EFO	brain disease	cocaine dependence
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0002610	"A drug dependence that is a psychological dependency on the regular use of cocaine." []	2024359	\N	\N	EFO	4	EFO	nervous system disease	cocaine dependence
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002610	"A drug dependence that is a psychological dependency on the regular use of cocaine." []	3177504	\N	\N	EFO	5	EFO	disease	cocaine dependence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002610	"A drug dependence that is a psychological dependency on the regular use of cocaine." []	4387777	\N	\N	EFO	6	EFO	disposition	cocaine dependence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002610	"A drug dependence that is a psychological dependency on the regular use of cocaine." []	5408614	\N	\N	EFO	7	EFO	material property	cocaine dependence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002610	"A drug dependence that is a psychological dependency on the regular use of cocaine." []	6147435	\N	\N	EFO	8	EFO	experimental factor	cocaine dependence
EFO:0002612	\N	\N	"A gammaherpesvirus that contributes to the development of Kaposi sarcoma." []	EFO:0002612	"A gammaherpesvirus that contributes to the development of Kaposi sarcoma." []	65337	\N	\N	EFO	0	EFO	human herpesvirus 8 infection	human herpesvirus 8 infection
EFO:0000763	EFO:0002612	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0002612	"A gammaherpesvirus that contributes to the development of Kaposi sarcoma." []	206314	\N	\N	EFO	1	EFO	viral disease	human herpesvirus 8 infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0002612	"A gammaherpesvirus that contributes to the development of Kaposi sarcoma." []	559423	\N	\N	EFO	2	EFO	infectious disease	human herpesvirus 8 infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002612	"A gammaherpesvirus that contributes to the development of Kaposi sarcoma." []	1141410	\N	\N	EFO	3	EFO	disease	human herpesvirus 8 infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002612	"A gammaherpesvirus that contributes to the development of Kaposi sarcoma." []	2024360	\N	\N	EFO	4	EFO	disposition	human herpesvirus 8 infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002612	"A gammaherpesvirus that contributes to the development of Kaposi sarcoma." []	3177505	\N	\N	EFO	5	EFO	material property	human herpesvirus 8 infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002612	"A gammaherpesvirus that contributes to the development of Kaposi sarcoma." []	4387778	\N	\N	EFO	6	EFO	experimental factor	human herpesvirus 8 infection
EFO:0002613	\N	\N	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	65338	\N	\N	EFO	0	EFO	iatrogenic Kaposi's sarcoma	iatrogenic Kaposi's sarcoma
EFO:0000558	EFO:0002613	\N	"A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV)." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	206315	\N	\N	EFO	1	EFO	Kaposi's sarcoma	iatrogenic Kaposi's sarcoma
EFO:0000691	EFO:0000558	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	559424	\N	\N	EFO	2	EFO	sarcoma	iatrogenic Kaposi's sarcoma
EFO:0004198	EFO:0000558	\N	"Tumors or cancer of the SKIN." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	559425	\N	\N	EFO	2	EFO	skin neoplasm	iatrogenic Kaposi's sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	1141411	\N	\N	EFO	3	EFO	cancer	iatrogenic Kaposi's sarcoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	1141412	\N	\N	EFO	3	EFO	neoplasm	iatrogenic Kaposi's sarcoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	1141413	\N	\N	EFO	3	EFO	skin disease	iatrogenic Kaposi's sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	2024361	\N	\N	EFO	4	EFO	neoplasm	iatrogenic Kaposi's sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	3177506	\N	\N	EFO	5	EFO	disease	iatrogenic Kaposi's sarcoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	2024363	\N	\N	EFO	4	EFO	disease	iatrogenic Kaposi's sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	4132580	\N	\N	EFO	6	EFO	disposition	iatrogenic Kaposi's sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	5180925	\N	\N	EFO	7	EFO	material property	iatrogenic Kaposi's sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002613	"A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." []	5996573	\N	\N	EFO	8	EFO	experimental factor	iatrogenic Kaposi's sarcoma
EFO:0002614	\N	\N	"diminished effectiveness of insulin in lowering plasma glucose levels" []	EFO:0002614	"diminished effectiveness of insulin in lowering plasma glucose levels" []	65339	\N	\N	EFO	0	EFO	insulin resistance	insulin resistance
HP:0001939	\N	\N	"" []	EFO:0002614	"diminished effectiveness of insulin in lowering plasma glucose levels" []	194576	\N	\N	EFO	0	EFO	Abnormality of metabolism/homeostasis	insulin resistance
EFO:0002615	\N	\N	"Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." []	EFO:0002615	"Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." []	65340	\N	\N	EFO	0	EFO	internal carotid artery stenosis	internal carotid artery stenosis
EFO:0003763	EFO:0002615	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0002615	"Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." []	206316	\N	\N	EFO	1	EFO	cerebrovascular disorder	internal carotid artery stenosis
EFO:0003781	EFO:0002615	\N	"Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." []	EFO:0002615	"Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." []	206317	\N	\N	EFO	1	EFO	carotid artery disease	internal carotid artery stenosis
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0002615	"Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." []	559426	\N	\N	EFO	2	EFO	vascular disease	internal carotid artery stenosis
EFO:0004264	EFO:0003781	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0002615	"Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." []	559427	\N	\N	EFO	2	EFO	vascular disease	internal carotid artery stenosis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0002615	"Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." []	1141414	\N	\N	EFO	3	EFO	cardiovascular disease	internal carotid artery stenosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002615	"Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." []	2024364	\N	\N	EFO	4	EFO	disease	internal carotid artery stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002615	"Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." []	3177508	\N	\N	EFO	5	EFO	disposition	internal carotid artery stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002615	"Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." []	4387780	\N	\N	EFO	6	EFO	material property	internal carotid artery stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002615	"Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." []	5408616	\N	\N	EFO	7	EFO	experimental factor	internal carotid artery stenosis
EFO:0002616	\N	\N	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	EFO:0002616	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	65341	\N	\N	EFO	0	EFO	macroglobulinemia	macroglobulinemia
EFO:0000200	EFO:0002616	\N	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	EFO:0002616	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	206318	\N	\N	EFO	1	EFO	plasma cell neoplasm	macroglobulinemia
EFO:0000096	EFO:0000200	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:0002616	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	559428	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	macroglobulinemia
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0002616	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	1141415	\N	\N	EFO	3	EFO	lymphoid neoplasm	macroglobulinemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002616	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	2024365	\N	\N	EFO	4	EFO	cancer	macroglobulinemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0002616	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	2024366	\N	\N	EFO	4	EFO	hematological system disease	macroglobulinemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002616	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	3177509	\N	\N	EFO	5	EFO	neoplasm	macroglobulinemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002616	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	3177510	\N	\N	EFO	5	EFO	disease	macroglobulinemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002616	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	4387781	\N	\N	EFO	6	EFO	disease	macroglobulinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002616	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	5408617	\N	\N	EFO	7	EFO	disposition	macroglobulinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002616	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	5996574	\N	\N	EFO	8	EFO	material property	macroglobulinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002616	"Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." []	6550365	\N	\N	EFO	9	EFO	experimental factor	macroglobulinemia
EFO:0002617	\N	\N	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	65342	\N	\N	EFO	0	EFO	metastatic melanoma	metastatic melanoma
EFO:0000756	EFO:0002617	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	206319	\N	\N	EFO	1	EFO	melanoma	metastatic melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	559429	\N	\N	EFO	2	EFO	carcinoma	metastatic melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	559430	\N	\N	EFO	2	EFO	skin neoplasm	metastatic melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	1141416	\N	\N	EFO	3	EFO	cancer	metastatic melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	1141417	\N	\N	EFO	3	EFO	epithelial neoplasm	metastatic melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	1141418	\N	\N	EFO	3	EFO	neoplasm	metastatic melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	1141419	\N	\N	EFO	3	EFO	skin disease	metastatic melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	2024367	\N	\N	EFO	4	EFO	neoplasm	metastatic melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	2024368	\N	\N	EFO	4	EFO	neoplasm	metastatic melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	3177511	\N	\N	EFO	5	EFO	disease	metastatic melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	2024370	\N	\N	EFO	4	EFO	disease	metastatic melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	4132581	\N	\N	EFO	6	EFO	disposition	metastatic melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	5180926	\N	\N	EFO	7	EFO	material property	metastatic melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002617	"A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	5996575	\N	\N	EFO	8	EFO	experimental factor	metastatic melanoma
EFO:0002618	\N	\N	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	65343	\N	\N	EFO	0	EFO	pancreatic carcinoma	pancreatic carcinoma
EFO:0000313	EFO:0002618	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	206320	\N	\N	EFO	1	EFO	carcinoma	pancreatic carcinoma
EFO:0003860	EFO:0002618	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	206321	\N	\N	EFO	1	EFO	pancreatic neoplasm	pancreatic carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	559431	\N	\N	EFO	2	EFO	cancer	pancreatic carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	559432	\N	\N	EFO	2	EFO	epithelial neoplasm	pancreatic carcinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	559433	\N	\N	EFO	2	EFO	endocrine neoplasm	pancreatic carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	1141420	\N	\N	EFO	3	EFO	neoplasm	pancreatic carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	1141421	\N	\N	EFO	3	EFO	neoplasm	pancreatic carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	1141422	\N	\N	EFO	3	EFO	neoplasm	pancreatic carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	1141423	\N	\N	EFO	3	EFO	endocrine system disease	pancreatic carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	2024371	\N	\N	EFO	4	EFO	disease	pancreatic carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	2024372	\N	\N	EFO	4	EFO	disease	pancreatic carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	3177513	\N	\N	EFO	5	EFO	disposition	pancreatic carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	4387784	\N	\N	EFO	6	EFO	material property	pancreatic carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002618	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	5408620	\N	\N	EFO	7	EFO	experimental factor	pancreatic carcinoma
EFO:0002621	\N	\N	"noninvasive prostate duct lesions that affect smaller caliber ducts" []	EFO:0002621	"noninvasive prostate duct lesions that affect smaller caliber ducts" []	65344	\N	\N	EFO	0	EFO	prostate intraepithelial neoplasia	prostate intraepithelial neoplasia
EFO:0000616	EFO:0002621	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002621	"noninvasive prostate duct lesions that affect smaller caliber ducts" []	206322	\N	\N	EFO	1	EFO	neoplasm	prostate intraepithelial neoplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002621	"noninvasive prostate duct lesions that affect smaller caliber ducts" []	559434	\N	\N	EFO	2	EFO	disease	prostate intraepithelial neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002621	"noninvasive prostate duct lesions that affect smaller caliber ducts" []	1141424	\N	\N	EFO	3	EFO	disposition	prostate intraepithelial neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002621	"noninvasive prostate duct lesions that affect smaller caliber ducts" []	2024373	\N	\N	EFO	4	EFO	material property	prostate intraepithelial neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002621	"noninvasive prostate duct lesions that affect smaller caliber ducts" []	3177514	\N	\N	EFO	5	EFO	experimental factor	prostate intraepithelial neoplasia
EFO:0002622	\N	\N	"A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." []	EFO:0002622	"A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." []	65345	\N	\N	EFO	0	EFO	rotavirus infection	rotavirus infection
EFO:0000405	EFO:0002622	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0002622	"A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." []	206323	\N	\N	EFO	1	EFO	digestive system disease	rotavirus infection
EFO:0000763	EFO:0002622	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0002622	"A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." []	206324	\N	\N	EFO	1	EFO	viral disease	rotavirus infection
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002622	"A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." []	559435	\N	\N	EFO	2	EFO	disease	rotavirus infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0002622	"A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." []	559436	\N	\N	EFO	2	EFO	infectious disease	rotavirus infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002622	"A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." []	2024375	\N	\N	EFO	4	EFO	disposition	rotavirus infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002622	"A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." []	1141426	\N	\N	EFO	3	EFO	disease	rotavirus infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002622	"A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." []	2999460	\N	\N	EFO	5	EFO	material property	rotavirus infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002622	"A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." []	4132582	\N	\N	EFO	6	EFO	experimental factor	rotavirus infection
EFO:0002623	\N	\N	"Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." []	EFO:0002623	"Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." []	65346	\N	\N	EFO	0	EFO	septic peritonitis	septic peritonitis
EFO:0000405	EFO:0002623	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0002623	"Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." []	206325	\N	\N	EFO	1	EFO	digestive system disease	septic peritonitis
EFO:0000771	EFO:0002623	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0002623	"Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." []	206326	\N	\N	EFO	1	EFO	bacterial disease	septic peritonitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002623	"Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." []	559437	\N	\N	EFO	2	EFO	disease	septic peritonitis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0002623	"Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." []	559438	\N	\N	EFO	2	EFO	infectious disease	septic peritonitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002623	"Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." []	2024377	\N	\N	EFO	4	EFO	disposition	septic peritonitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002623	"Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." []	1141428	\N	\N	EFO	3	EFO	disease	septic peritonitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002623	"Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." []	2999461	\N	\N	EFO	5	EFO	material property	septic peritonitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002623	"Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." []	4132583	\N	\N	EFO	6	EFO	experimental factor	septic peritonitis
EFO:0002625	\N	\N	"presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" []	EFO:0002625	"presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" []	65347	\N	\N	EFO	0	EFO	teratozoospermia	teratozoospermia
EFO:0000512	EFO:0002625	\N	"any diease of the reproductive system" []	EFO:0002625	"presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" []	206327	\N	\N	EFO	1	EFO	reproductive system disease	teratozoospermia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002625	"presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" []	559439	\N	\N	EFO	2	EFO	disease	teratozoospermia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002625	"presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" []	1141429	\N	\N	EFO	3	EFO	disposition	teratozoospermia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002625	"presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" []	2024378	\N	\N	EFO	4	EFO	material property	teratozoospermia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002625	"presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" []	3177517	\N	\N	EFO	5	EFO	experimental factor	teratozoospermia
EFO:0002626	\N	\N	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	EFO:0002626	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	65348	\N	\N	EFO	0	EFO	thymus neoplasm	thymus neoplasm
EFO:0003769	EFO:0002626	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0002626	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	206328	\N	\N	EFO	1	EFO	endocrine neoplasm	thymus neoplasm
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002626	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	559440	\N	\N	EFO	2	EFO	neoplasm	thymus neoplasm
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0002626	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	559441	\N	\N	EFO	2	EFO	endocrine system disease	thymus neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002626	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	1141430	\N	\N	EFO	3	EFO	disease	thymus neoplasm
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002626	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	1141431	\N	\N	EFO	3	EFO	disease	thymus neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002626	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	2024379	\N	\N	EFO	4	EFO	disposition	thymus neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002626	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	3177518	\N	\N	EFO	5	EFO	material property	thymus neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002626	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	4387785	\N	\N	EFO	6	EFO	experimental factor	thymus neoplasm
EFO:0002627	\N	\N	"High-grade intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar intraepithelial neoplasia, usual type and vulvar intraepithelial neoplasia, differentiated type." []	EFO:0002627	"High-grade intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar intraepithelial neoplasia, usual type and vulvar intraepithelial neoplasia, differentiated type." []	65349	\N	\N	EFO	0	EFO	vulvar intraepithelial neoplasia	vulvar intraepithelial neoplasia
EFO:0000512	EFO:0002627	\N	"any diease of the reproductive system" []	EFO:0002627	"High-grade intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar intraepithelial neoplasia, usual type and vulvar intraepithelial neoplasia, differentiated type." []	206329	\N	\N	EFO	1	EFO	reproductive system disease	vulvar intraepithelial neoplasia
EFO:0003863	EFO:0002627	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0002627	"High-grade intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar intraepithelial neoplasia, usual type and vulvar intraepithelial neoplasia, differentiated type." []	206330	\N	\N	EFO	1	EFO	urogenital neoplasm	vulvar intraepithelial neoplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002627	"High-grade intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar intraepithelial neoplasia, usual type and vulvar intraepithelial neoplasia, differentiated type." []	559442	\N	\N	EFO	2	EFO	disease	vulvar intraepithelial neoplasia
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002627	"High-grade intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar intraepithelial neoplasia, usual type and vulvar intraepithelial neoplasia, differentiated type." []	559443	\N	\N	EFO	2	EFO	neoplasm	vulvar intraepithelial neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002627	"High-grade intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar intraepithelial neoplasia, usual type and vulvar intraepithelial neoplasia, differentiated type." []	2024381	\N	\N	EFO	4	EFO	disposition	vulvar intraepithelial neoplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002627	"High-grade intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar intraepithelial neoplasia, usual type and vulvar intraepithelial neoplasia, differentiated type." []	1141433	\N	\N	EFO	3	EFO	disease	vulvar intraepithelial neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002627	"High-grade intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar intraepithelial neoplasia, usual type and vulvar intraepithelial neoplasia, differentiated type." []	2999462	\N	\N	EFO	5	EFO	material property	vulvar intraepithelial neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002627	"High-grade intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar intraepithelial neoplasia, usual type and vulvar intraepithelial neoplasia, differentiated type." []	4132584	\N	\N	EFO	6	EFO	experimental factor	vulvar intraepithelial neoplasia
EFO:0002628	\N	\N	"Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\\n\\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\\n\\nIt may occur in childbearing women of any age, but it is most common after age 30." []	EFO:0002628	"Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\\n\\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\\n\\nIt may occur in childbearing women of any age, but it is most common after age 30." []	65350	\N	\N	EFO	0	EFO	peripartum cardiomyopathy	peripartum cardiomyopathy
EFO:0000407	EFO:0002628	\N	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" []	EFO:0002628	"Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\\n\\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\\n\\nIt may occur in childbearing women of any age, but it is most common after age 30." []	206331	\N	\N	EFO	1	EFO	dilated cardiomyopathy	peripartum cardiomyopathy
EFO:0000318	EFO:0000407	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:0002628	"Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\\n\\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\\n\\nIt may occur in childbearing women of any age, but it is most common after age 30." []	559444	\N	\N	EFO	2	EFO	cardiomyopathy	peripartum cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0002628	"Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\\n\\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\\n\\nIt may occur in childbearing women of any age, but it is most common after age 30." []	1141434	\N	\N	EFO	3	EFO	heart disease	peripartum cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0002628	"Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\\n\\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\\n\\nIt may occur in childbearing women of any age, but it is most common after age 30." []	2024382	\N	\N	EFO	4	EFO	cardiovascular disease	peripartum cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002628	"Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\\n\\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\\n\\nIt may occur in childbearing women of any age, but it is most common after age 30." []	3177520	\N	\N	EFO	5	EFO	disease	peripartum cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002628	"Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\\n\\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\\n\\nIt may occur in childbearing women of any age, but it is most common after age 30." []	4387786	\N	\N	EFO	6	EFO	disposition	peripartum cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002628	"Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\\n\\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\\n\\nIt may occur in childbearing women of any age, but it is most common after age 30." []	5408621	\N	\N	EFO	7	EFO	material property	peripartum cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002628	"Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\\n\\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\\n\\nIt may occur in childbearing women of any age, but it is most common after age 30." []	6147437	\N	\N	EFO	8	EFO	experimental factor	peripartum cardiomyopathy
EFO:0002629	\N	\N	"Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C" []	EFO:0002629	"Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C" []	65351	\N	\N	EFO	0	EFO	viral cardiomyopathy	viral cardiomyopathy
EFO:0000407	EFO:0002629	\N	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" []	EFO:0002629	"Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C" []	206332	\N	\N	EFO	1	EFO	dilated cardiomyopathy	viral cardiomyopathy
EFO:0000318	EFO:0000407	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:0002629	"Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C" []	559445	\N	\N	EFO	2	EFO	cardiomyopathy	viral cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0002629	"Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C" []	1141435	\N	\N	EFO	3	EFO	heart disease	viral cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0002629	"Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C" []	2024383	\N	\N	EFO	4	EFO	cardiovascular disease	viral cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002629	"Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C" []	3177521	\N	\N	EFO	5	EFO	disease	viral cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002629	"Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C" []	4387787	\N	\N	EFO	6	EFO	disposition	viral cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002629	"Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C" []	5408622	\N	\N	EFO	7	EFO	material property	viral cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002629	"Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C" []	6147438	\N	\N	EFO	8	EFO	experimental factor	viral cardiomyopathy
EFO:0002630	\N	\N	"A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." []	EFO:0002630	"A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." []	65352	\N	\N	EFO	0	EFO	restrictive cardiomyopathy	restrictive cardiomyopathy
EFO:0000318	EFO:0002630	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:0002630	"A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." []	206333	\N	\N	EFO	1	EFO	cardiomyopathy	restrictive cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0002630	"A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." []	559446	\N	\N	EFO	2	EFO	heart disease	restrictive cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0002630	"A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." []	1141436	\N	\N	EFO	3	EFO	cardiovascular disease	restrictive cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002630	"A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." []	2024384	\N	\N	EFO	4	EFO	disease	restrictive cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002630	"A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." []	3177522	\N	\N	EFO	5	EFO	disposition	restrictive cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002630	"A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." []	4387788	\N	\N	EFO	6	EFO	material property	restrictive cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002630	"A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." []	5408623	\N	\N	EFO	7	EFO	experimental factor	restrictive cardiomyopathy
EFO:0002658	\N	\N	"" []	EFO:0002658	"" []	65353	\N	\N	EFO	0	EFO	protocol parameter	protocol parameter
IAO:0000030	EFO:0002658	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002658	"" []	206334	\N	\N	EFO	1	EFO	information entity	protocol parameter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002658	"" []	559447	\N	\N	EFO	2	EFO	experimental factor	protocol parameter
EFO:0002659	\N	\N	"" []	EFO:0002659	"" []	65354	\N	\N	EFO	0	EFO	MDCC-MSB1	MDCC-MSB1
EFO:0005292	EFO:0002659	\N	"" []	EFO:0002659	"" []	206335	\N	\N	EFO	1	EFO	lymphoblastoid cell line	MDCC-MSB1
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002659	"" []	559448	\N	\N	EFO	2	EFO	cell line	MDCC-MSB1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002659	"" []	1141437	\N	\N	EFO	3	EFO	material entity	MDCC-MSB1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002659	"" []	2024385	\N	\N	EFO	4	EFO	experimental factor	MDCC-MSB1
EFO:0002660	\N	\N	"A cell taken directly from a living organism, which is not immortalized." []	EFO:0002660	"A cell taken directly from a living organism, which is not immortalized." []	65355	\N	\N	EFO	0	EFO	primary cell	primary cell
EFO:0000323	EFO:0002660	\N	"An attribute of a cell e.g. CD8+" []	EFO:0002660	"A cell taken directly from a living organism, which is not immortalized." []	206336	\N	\N	EFO	1	EFO	cell property	primary cell
BFO:0000019	EFO:0000323	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0002660	"A cell taken directly from a living organism, which is not immortalized." []	559449	\N	\N	EFO	2	EFO	quality	primary cell
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002660	"A cell taken directly from a living organism, which is not immortalized." []	1141438	\N	\N	EFO	3	EFO	material property	primary cell
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002660	"A cell taken directly from a living organism, which is not immortalized." []	2024386	\N	\N	EFO	4	EFO	experimental factor	primary cell
EFO:0002661	\N	\N	"" []	EFO:0002661	"" []	65356	\N	\N	EFO	0	EFO	dendritic cell-derived intermediate cell	dendritic cell-derived intermediate cell
CL:0000988	EFO:0002661	\N	"A cell of a hematopoietic lineage." []	EFO:0002661	"" []	206337	\N	\N	EFO	1	EFO	hematopoietic cell	dendritic cell-derived intermediate cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002661	"" []	559450	\N	\N	EFO	2	EFO	cell type	dendritic cell-derived intermediate cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002661	"" []	1141439	\N	\N	EFO	3	EFO	material entity	dendritic cell-derived intermediate cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002661	"" []	2024387	\N	\N	EFO	4	EFO	experimental factor	dendritic cell-derived intermediate cell
EFO:0002662	\N	\N	"" []	EFO:0002662	"" []	65357	\N	\N	EFO	0	EFO	dendritic cell-derived osteoclast	dendritic cell-derived osteoclast
EFO:0002958	EFO:0002662	\N	"experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes." []	EFO:0002662	"" []	206338	\N	\N	EFO	1	EFO	experimental cell	dendritic cell-derived osteoclast
EFO:0000324	EFO:0002958	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002662	"" []	559451	\N	\N	EFO	2	EFO	cell type	dendritic cell-derived osteoclast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002662	"" []	1141440	\N	\N	EFO	3	EFO	material entity	dendritic cell-derived osteoclast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002662	"" []	2024388	\N	\N	EFO	4	EFO	experimental factor	dendritic cell-derived osteoclast
EFO:0002665	\N	\N	"" []	EFO:0002665	"" []	65358	\N	\N	EFO	0	EFO	monocyte-derived intermediate cell	monocyte-derived intermediate cell
CL:0000988	EFO:0002665	\N	"A cell of a hematopoietic lineage." []	EFO:0002665	"" []	206339	\N	\N	EFO	1	EFO	hematopoietic cell	monocyte-derived intermediate cell
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002665	"" []	559452	\N	\N	EFO	2	EFO	cell type	monocyte-derived intermediate cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002665	"" []	1141441	\N	\N	EFO	3	EFO	material entity	monocyte-derived intermediate cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002665	"" []	2024389	\N	\N	EFO	4	EFO	experimental factor	monocyte-derived intermediate cell
EFO:0002666	\N	\N	"" []	EFO:0002666	"" []	65359	\N	\N	EFO	0	EFO	monocyte-derived osteoclast	monocyte-derived osteoclast
EFO:0002958	EFO:0002666	\N	"experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes." []	EFO:0002666	"" []	206340	\N	\N	EFO	1	EFO	experimental cell	monocyte-derived osteoclast
EFO:0000324	EFO:0002958	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002666	"" []	559453	\N	\N	EFO	2	EFO	cell type	monocyte-derived osteoclast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002666	"" []	1141442	\N	\N	EFO	3	EFO	material entity	monocyte-derived osteoclast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002666	"" []	2024390	\N	\N	EFO	4	EFO	experimental factor	monocyte-derived osteoclast
EFO:0002669	\N	\N	"Etanercept (trade name Enbrel) is a drug that treats autoimmune diseases by interfering with tumor necrosis factor (TNF; a soluble inflammatory cytokine) by acting as a TNF inhibitor. Pfizer describes in a SEC filing that the drug is used to treat rheumatoid, juvenile rheumatoid and psoriatic arthritis, plaque psoriasis and ankylosing spondylitis. Sales reached record $3.3 billion in 2010.[1]\\nEtanercept is a fusion protein produced through expression of recombinant DNA. That is, it is a product of a DNA \\"construct\\" engineered to link the human gene for soluble TNF receptor 2 to the gene for the Fc component of human immunoglobulin G1 (IgG1). Expression of the construct produces a continuous protein \\"fusing\\" TNF receptor 2 to IgG1. Production of Etanercept is accomplished by the large-scale culturing of cells that have been \\"cloned\\" to express this recombinant DNA construct." []	EFO:0002669	"Etanercept (trade name Enbrel) is a drug that treats autoimmune diseases by interfering with tumor necrosis factor (TNF; a soluble inflammatory cytokine) by acting as a TNF inhibitor. Pfizer describes in a SEC filing that the drug is used to treat rheumatoid, juvenile rheumatoid and psoriatic arthritis, plaque psoriasis and ankylosing spondylitis. Sales reached record $3.3 billion in 2010.[1]\\nEtanercept is a fusion protein produced through expression of recombinant DNA. That is, it is a product of a DNA \\"construct\\" engineered to link the human gene for soluble TNF receptor 2 to the gene for the Fc component of human immunoglobulin G1 (IgG1). Expression of the construct produces a continuous protein \\"fusing\\" TNF receptor 2 to IgG1. Production of Etanercept is accomplished by the large-scale culturing of cells that have been \\"cloned\\" to express this recombinant DNA construct." []	65360	\N	\N	EFO	0	EFO	ENBREL	ENBREL
CHEBI:23888	EFO:0002669	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	EFO:0002669	"Etanercept (trade name Enbrel) is a drug that treats autoimmune diseases by interfering with tumor necrosis factor (TNF; a soluble inflammatory cytokine) by acting as a TNF inhibitor. Pfizer describes in a SEC filing that the drug is used to treat rheumatoid, juvenile rheumatoid and psoriatic arthritis, plaque psoriasis and ankylosing spondylitis. Sales reached record $3.3 billion in 2010.[1]\\nEtanercept is a fusion protein produced through expression of recombinant DNA. That is, it is a product of a DNA \\"construct\\" engineered to link the human gene for soluble TNF receptor 2 to the gene for the Fc component of human immunoglobulin G1 (IgG1). Expression of the construct produces a continuous protein \\"fusing\\" TNF receptor 2 to IgG1. Production of Etanercept is accomplished by the large-scale culturing of cells that have been \\"cloned\\" to express this recombinant DNA construct." []	206341	\N	\N	EFO	1	EFO	drug	ENBREL
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0002669	"Etanercept (trade name Enbrel) is a drug that treats autoimmune diseases by interfering with tumor necrosis factor (TNF; a soluble inflammatory cytokine) by acting as a TNF inhibitor. Pfizer describes in a SEC filing that the drug is used to treat rheumatoid, juvenile rheumatoid and psoriatic arthritis, plaque psoriasis and ankylosing spondylitis. Sales reached record $3.3 billion in 2010.[1]\\nEtanercept is a fusion protein produced through expression of recombinant DNA. That is, it is a product of a DNA \\"construct\\" engineered to link the human gene for soluble TNF receptor 2 to the gene for the Fc component of human immunoglobulin G1 (IgG1). Expression of the construct produces a continuous protein \\"fusing\\" TNF receptor 2 to IgG1. Production of Etanercept is accomplished by the large-scale culturing of cells that have been \\"cloned\\" to express this recombinant DNA construct." []	559454	\N	\N	EFO	2	EFO	chemical compound	ENBREL
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0002669	"Etanercept (trade name Enbrel) is a drug that treats autoimmune diseases by interfering with tumor necrosis factor (TNF; a soluble inflammatory cytokine) by acting as a TNF inhibitor. Pfizer describes in a SEC filing that the drug is used to treat rheumatoid, juvenile rheumatoid and psoriatic arthritis, plaque psoriasis and ankylosing spondylitis. Sales reached record $3.3 billion in 2010.[1]\\nEtanercept is a fusion protein produced through expression of recombinant DNA. That is, it is a product of a DNA \\"construct\\" engineered to link the human gene for soluble TNF receptor 2 to the gene for the Fc component of human immunoglobulin G1 (IgG1). Expression of the construct produces a continuous protein \\"fusing\\" TNF receptor 2 to IgG1. Production of Etanercept is accomplished by the large-scale culturing of cells that have been \\"cloned\\" to express this recombinant DNA construct." []	1141443	\N	\N	EFO	3	EFO	chemical entity	ENBREL
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002669	"Etanercept (trade name Enbrel) is a drug that treats autoimmune diseases by interfering with tumor necrosis factor (TNF; a soluble inflammatory cytokine) by acting as a TNF inhibitor. Pfizer describes in a SEC filing that the drug is used to treat rheumatoid, juvenile rheumatoid and psoriatic arthritis, plaque psoriasis and ankylosing spondylitis. Sales reached record $3.3 billion in 2010.[1]\\nEtanercept is a fusion protein produced through expression of recombinant DNA. That is, it is a product of a DNA \\"construct\\" engineered to link the human gene for soluble TNF receptor 2 to the gene for the Fc component of human immunoglobulin G1 (IgG1). Expression of the construct produces a continuous protein \\"fusing\\" TNF receptor 2 to IgG1. Production of Etanercept is accomplished by the large-scale culturing of cells that have been \\"cloned\\" to express this recombinant DNA construct." []	2024391	\N	\N	EFO	4	EFO	material entity	ENBREL
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002669	"Etanercept (trade name Enbrel) is a drug that treats autoimmune diseases by interfering with tumor necrosis factor (TNF; a soluble inflammatory cytokine) by acting as a TNF inhibitor. Pfizer describes in a SEC filing that the drug is used to treat rheumatoid, juvenile rheumatoid and psoriatic arthritis, plaque psoriasis and ankylosing spondylitis. Sales reached record $3.3 billion in 2010.[1]\\nEtanercept is a fusion protein produced through expression of recombinant DNA. That is, it is a product of a DNA \\"construct\\" engineered to link the human gene for soluble TNF receptor 2 to the gene for the Fc component of human immunoglobulin G1 (IgG1). Expression of the construct produces a continuous protein \\"fusing\\" TNF receptor 2 to IgG1. Production of Etanercept is accomplished by the large-scale culturing of cells that have been \\"cloned\\" to express this recombinant DNA construct." []	3177523	\N	\N	EFO	5	EFO	experimental factor	ENBREL
EFO:0002671	\N	\N	"CAS Number: 505-44-2\\nMolecular Weight: 163.26\\nMolecular Formula: C5H9NOS2\\nPurity: ?97%\\nForm: Liquid\\nPhysical Appearance: Light yellow liquid\\nSMILES: CS(=O)CCCN=C=S" []	EFO:0002671	"CAS Number: 505-44-2\\nMolecular Weight: 163.26\\nMolecular Formula: C5H9NOS2\\nPurity: ?97%\\nForm: Liquid\\nPhysical Appearance: Light yellow liquid\\nSMILES: CS(=O)CCCN=C=S" []	65361	\N	\N	EFO	0	EFO	iberin	iberin
CHEBI:37577	EFO:0002671	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0002671	"CAS Number: 505-44-2\\nMolecular Weight: 163.26\\nMolecular Formula: C5H9NOS2\\nPurity: ?97%\\nForm: Liquid\\nPhysical Appearance: Light yellow liquid\\nSMILES: CS(=O)CCCN=C=S" []	206342	\N	\N	EFO	1	EFO	chemical compound	iberin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0002671	"CAS Number: 505-44-2\\nMolecular Weight: 163.26\\nMolecular Formula: C5H9NOS2\\nPurity: ?97%\\nForm: Liquid\\nPhysical Appearance: Light yellow liquid\\nSMILES: CS(=O)CCCN=C=S" []	559455	\N	\N	EFO	2	EFO	chemical entity	iberin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002671	"CAS Number: 505-44-2\\nMolecular Weight: 163.26\\nMolecular Formula: C5H9NOS2\\nPurity: ?97%\\nForm: Liquid\\nPhysical Appearance: Light yellow liquid\\nSMILES: CS(=O)CCCN=C=S" []	1141444	\N	\N	EFO	3	EFO	material entity	iberin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002671	"CAS Number: 505-44-2\\nMolecular Weight: 163.26\\nMolecular Formula: C5H9NOS2\\nPurity: ?97%\\nForm: Liquid\\nPhysical Appearance: Light yellow liquid\\nSMILES: CS(=O)CCCN=C=S" []	2024392	\N	\N	EFO	4	EFO	experimental factor	iberin
EFO:0002673	\N	\N	"An antiprogestogen, also called an antiprogesterone or in the case of a synthetic agent, an antiprogestin, is a type of hormone antagonist in which that antagonizes or suppresses the actions of progesterone in the body, a sex hormone that plays a role in the menstrual cycle and pregnancy. Antiprogestogens may stop some cancer cells from growing and they are being studied in the treatment of breast cancer.\\nAn example of an antiprogestogen is mifepristone.[1][2" []	EFO:0002673	"An antiprogestogen, also called an antiprogesterone or in the case of a synthetic agent, an antiprogestin, is a type of hormone antagonist in which that antagonizes or suppresses the actions of progesterone in the body, a sex hormone that plays a role in the menstrual cycle and pregnancy. Antiprogestogens may stop some cancer cells from growing and they are being studied in the treatment of breast cancer.\\nAn example of an antiprogestogen is mifepristone.[1][2" []	65362	\N	\N	EFO	0	EFO	antiprogestin	antiprogestin
CHEBI:23888	EFO:0002673	\N	"Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." []	EFO:0002673	"An antiprogestogen, also called an antiprogesterone or in the case of a synthetic agent, an antiprogestin, is a type of hormone antagonist in which that antagonizes or suppresses the actions of progesterone in the body, a sex hormone that plays a role in the menstrual cycle and pregnancy. Antiprogestogens may stop some cancer cells from growing and they are being studied in the treatment of breast cancer.\\nAn example of an antiprogestogen is mifepristone.[1][2" []	206343	\N	\N	EFO	1	EFO	drug	antiprogestin
CHEBI:37577	CHEBI:23888	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0002673	"An antiprogestogen, also called an antiprogesterone or in the case of a synthetic agent, an antiprogestin, is a type of hormone antagonist in which that antagonizes or suppresses the actions of progesterone in the body, a sex hormone that plays a role in the menstrual cycle and pregnancy. Antiprogestogens may stop some cancer cells from growing and they are being studied in the treatment of breast cancer.\\nAn example of an antiprogestogen is mifepristone.[1][2" []	559456	\N	\N	EFO	2	EFO	chemical compound	antiprogestin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0002673	"An antiprogestogen, also called an antiprogesterone or in the case of a synthetic agent, an antiprogestin, is a type of hormone antagonist in which that antagonizes or suppresses the actions of progesterone in the body, a sex hormone that plays a role in the menstrual cycle and pregnancy. Antiprogestogens may stop some cancer cells from growing and they are being studied in the treatment of breast cancer.\\nAn example of an antiprogestogen is mifepristone.[1][2" []	1141445	\N	\N	EFO	3	EFO	chemical entity	antiprogestin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002673	"An antiprogestogen, also called an antiprogesterone or in the case of a synthetic agent, an antiprogestin, is a type of hormone antagonist in which that antagonizes or suppresses the actions of progesterone in the body, a sex hormone that plays a role in the menstrual cycle and pregnancy. Antiprogestogens may stop some cancer cells from growing and they are being studied in the treatment of breast cancer.\\nAn example of an antiprogestogen is mifepristone.[1][2" []	2024393	\N	\N	EFO	4	EFO	material entity	antiprogestin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002673	"An antiprogestogen, also called an antiprogesterone or in the case of a synthetic agent, an antiprogestin, is a type of hormone antagonist in which that antagonizes or suppresses the actions of progesterone in the body, a sex hormone that plays a role in the menstrual cycle and pregnancy. Antiprogestogens may stop some cancer cells from growing and they are being studied in the treatment of breast cancer.\\nAn example of an antiprogestogen is mifepristone.[1][2" []	3177524	\N	\N	EFO	5	EFO	experimental factor	antiprogestin
EFO:0002674	\N	\N	"" []	EFO:0002674	"" []	65363	\N	\N	EFO	0	EFO	ovalbumin	ovalbumin
CHEBI:37577	EFO:0002674	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0002674	"" []	206344	\N	\N	EFO	1	EFO	chemical compound	ovalbumin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0002674	"" []	559457	\N	\N	EFO	2	EFO	chemical entity	ovalbumin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002674	"" []	1141446	\N	\N	EFO	3	EFO	material entity	ovalbumin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002674	"" []	2024394	\N	\N	EFO	4	EFO	experimental factor	ovalbumin
EFO:0002677	\N	\N	"" []	EFO:0002677	"" []	65364	\N	\N	EFO	0	EFO	saline	saline
CHEBI:37577	EFO:0002677	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0002677	"" []	206345	\N	\N	EFO	1	EFO	chemical compound	saline
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0002677	"" []	559458	\N	\N	EFO	2	EFO	chemical entity	saline
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002677	"" []	1141447	\N	\N	EFO	3	EFO	material entity	saline
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002677	"" []	2024395	\N	\N	EFO	4	EFO	experimental factor	saline
EFO:0002678	\N	\N	"4-Hydroxy-TEMPO or TEMPOL, formally 4-hydroxy-2,2,6,6-tetramethylpiperidin-1-oxyl, is a heterocyclic compound. Like the related TEMPO, it is used as a catalyst and chemical oxidant. [edit]Pharmaceutical Applications\\n\\nLikely at least partially due to its superoxide dismutase activity, TEMPOL shows radioprotective, life-prolonging properties in animal models, suggesting its potential usefulness for treatment of human diseases.[1] It is currently being studied in human subjects for prevention of radiation-induced alopecia.[2]\\nThis nitroxide antioxidant or its derivatives are also undergoing prospective clinical studies in several clinical conditions. In addition to radioprotection, these include high blood pressure[3][4] and macular degeneration[5]. A published patent[6] claims other clinical uses for TEMPOL and related compounds. These include treatment of fibrocystic disease of breast, menstrual cramps and their associated symptoms, migraine, hemorrhoids, neuropathic pain, cyclic vomiting syndrome, and peridontitis. The patent also claims treatment of the symptoms of influenza, herpes zoster and herpes simplex.\\n[edit]References" []	EFO:0002678	"4-Hydroxy-TEMPO or TEMPOL, formally 4-hydroxy-2,2,6,6-tetramethylpiperidin-1-oxyl, is a heterocyclic compound. Like the related TEMPO, it is used as a catalyst and chemical oxidant. [edit]Pharmaceutical Applications\\n\\nLikely at least partially due to its superoxide dismutase activity, TEMPOL shows radioprotective, life-prolonging properties in animal models, suggesting its potential usefulness for treatment of human diseases.[1] It is currently being studied in human subjects for prevention of radiation-induced alopecia.[2]\\nThis nitroxide antioxidant or its derivatives are also undergoing prospective clinical studies in several clinical conditions. In addition to radioprotection, these include high blood pressure[3][4] and macular degeneration[5]. A published patent[6] claims other clinical uses for TEMPOL and related compounds. These include treatment of fibrocystic disease of breast, menstrual cramps and their associated symptoms, migraine, hemorrhoids, neuropathic pain, cyclic vomiting syndrome, and peridontitis. The patent also claims treatment of the symptoms of influenza, herpes zoster and herpes simplex.\\n[edit]References" []	65365	\N	\N	EFO	0	EFO	tempol	tempol
CHEBI:37577	EFO:0002678	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0002678	"4-Hydroxy-TEMPO or TEMPOL, formally 4-hydroxy-2,2,6,6-tetramethylpiperidin-1-oxyl, is a heterocyclic compound. Like the related TEMPO, it is used as a catalyst and chemical oxidant. [edit]Pharmaceutical Applications\\n\\nLikely at least partially due to its superoxide dismutase activity, TEMPOL shows radioprotective, life-prolonging properties in animal models, suggesting its potential usefulness for treatment of human diseases.[1] It is currently being studied in human subjects for prevention of radiation-induced alopecia.[2]\\nThis nitroxide antioxidant or its derivatives are also undergoing prospective clinical studies in several clinical conditions. In addition to radioprotection, these include high blood pressure[3][4] and macular degeneration[5]. A published patent[6] claims other clinical uses for TEMPOL and related compounds. These include treatment of fibrocystic disease of breast, menstrual cramps and their associated symptoms, migraine, hemorrhoids, neuropathic pain, cyclic vomiting syndrome, and peridontitis. The patent also claims treatment of the symptoms of influenza, herpes zoster and herpes simplex.\\n[edit]References" []	206346	\N	\N	EFO	1	EFO	chemical compound	tempol
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0002678	"4-Hydroxy-TEMPO or TEMPOL, formally 4-hydroxy-2,2,6,6-tetramethylpiperidin-1-oxyl, is a heterocyclic compound. Like the related TEMPO, it is used as a catalyst and chemical oxidant. [edit]Pharmaceutical Applications\\n\\nLikely at least partially due to its superoxide dismutase activity, TEMPOL shows radioprotective, life-prolonging properties in animal models, suggesting its potential usefulness for treatment of human diseases.[1] It is currently being studied in human subjects for prevention of radiation-induced alopecia.[2]\\nThis nitroxide antioxidant or its derivatives are also undergoing prospective clinical studies in several clinical conditions. In addition to radioprotection, these include high blood pressure[3][4] and macular degeneration[5]. A published patent[6] claims other clinical uses for TEMPOL and related compounds. These include treatment of fibrocystic disease of breast, menstrual cramps and their associated symptoms, migraine, hemorrhoids, neuropathic pain, cyclic vomiting syndrome, and peridontitis. The patent also claims treatment of the symptoms of influenza, herpes zoster and herpes simplex.\\n[edit]References" []	559459	\N	\N	EFO	2	EFO	chemical entity	tempol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002678	"4-Hydroxy-TEMPO or TEMPOL, formally 4-hydroxy-2,2,6,6-tetramethylpiperidin-1-oxyl, is a heterocyclic compound. Like the related TEMPO, it is used as a catalyst and chemical oxidant. [edit]Pharmaceutical Applications\\n\\nLikely at least partially due to its superoxide dismutase activity, TEMPOL shows radioprotective, life-prolonging properties in animal models, suggesting its potential usefulness for treatment of human diseases.[1] It is currently being studied in human subjects for prevention of radiation-induced alopecia.[2]\\nThis nitroxide antioxidant or its derivatives are also undergoing prospective clinical studies in several clinical conditions. In addition to radioprotection, these include high blood pressure[3][4] and macular degeneration[5]. A published patent[6] claims other clinical uses for TEMPOL and related compounds. These include treatment of fibrocystic disease of breast, menstrual cramps and their associated symptoms, migraine, hemorrhoids, neuropathic pain, cyclic vomiting syndrome, and peridontitis. The patent also claims treatment of the symptoms of influenza, herpes zoster and herpes simplex.\\n[edit]References" []	1141448	\N	\N	EFO	3	EFO	material entity	tempol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002678	"4-Hydroxy-TEMPO or TEMPOL, formally 4-hydroxy-2,2,6,6-tetramethylpiperidin-1-oxyl, is a heterocyclic compound. Like the related TEMPO, it is used as a catalyst and chemical oxidant. [edit]Pharmaceutical Applications\\n\\nLikely at least partially due to its superoxide dismutase activity, TEMPOL shows radioprotective, life-prolonging properties in animal models, suggesting its potential usefulness for treatment of human diseases.[1] It is currently being studied in human subjects for prevention of radiation-induced alopecia.[2]\\nThis nitroxide antioxidant or its derivatives are also undergoing prospective clinical studies in several clinical conditions. In addition to radioprotection, these include high blood pressure[3][4] and macular degeneration[5]. A published patent[6] claims other clinical uses for TEMPOL and related compounds. These include treatment of fibrocystic disease of breast, menstrual cramps and their associated symptoms, migraine, hemorrhoids, neuropathic pain, cyclic vomiting syndrome, and peridontitis. The patent also claims treatment of the symptoms of influenza, herpes zoster and herpes simplex.\\n[edit]References" []	2024396	\N	\N	EFO	4	EFO	experimental factor	tempol
EFO:0002679	\N	\N	"Urocortin is a protein that in humans is encoded by the UCN gene.[1][2][3] This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain, it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II.[3] Urocortin is a potent anorexigenic peptide of 40 amino acids that induces fed-like motor activity when administered centrally or peripherally in fasted animals. Urocortin belongs to the corticotropin-releasing factor (CRF) family that includes CRF, urotensin I, sauvagine, urocortin II and urocortin III. Urocortin is also a potent and long-lasting hypotensive agent and increases coronary blood flow." []	EFO:0002679	"Urocortin is a protein that in humans is encoded by the UCN gene.[1][2][3] This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain, it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II.[3] Urocortin is a potent anorexigenic peptide of 40 amino acids that induces fed-like motor activity when administered centrally or peripherally in fasted animals. Urocortin belongs to the corticotropin-releasing factor (CRF) family that includes CRF, urotensin I, sauvagine, urocortin II and urocortin III. Urocortin is also a potent and long-lasting hypotensive agent and increases coronary blood flow." []	65366	\N	\N	EFO	0	EFO	urocortin I	urocortin I
CHEBI:36080	EFO:0002679	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0002679	"Urocortin is a protein that in humans is encoded by the UCN gene.[1][2][3] This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain, it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II.[3] Urocortin is a potent anorexigenic peptide of 40 amino acids that induces fed-like motor activity when administered centrally or peripherally in fasted animals. Urocortin belongs to the corticotropin-releasing factor (CRF) family that includes CRF, urotensin I, sauvagine, urocortin II and urocortin III. Urocortin is also a potent and long-lasting hypotensive agent and increases coronary blood flow." []	206347	\N	\N	EFO	1	EFO	protein	urocortin I
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0002679	"Urocortin is a protein that in humans is encoded by the UCN gene.[1][2][3] This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain, it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II.[3] Urocortin is a potent anorexigenic peptide of 40 amino acids that induces fed-like motor activity when administered centrally or peripherally in fasted animals. Urocortin belongs to the corticotropin-releasing factor (CRF) family that includes CRF, urotensin I, sauvagine, urocortin II and urocortin III. Urocortin is also a potent and long-lasting hypotensive agent and increases coronary blood flow." []	559460	\N	\N	EFO	2	EFO	chemical compound	urocortin I
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0002679	"Urocortin is a protein that in humans is encoded by the UCN gene.[1][2][3] This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain, it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II.[3] Urocortin is a potent anorexigenic peptide of 40 amino acids that induces fed-like motor activity when administered centrally or peripherally in fasted animals. Urocortin belongs to the corticotropin-releasing factor (CRF) family that includes CRF, urotensin I, sauvagine, urocortin II and urocortin III. Urocortin is also a potent and long-lasting hypotensive agent and increases coronary blood flow." []	1141449	\N	\N	EFO	3	EFO	chemical entity	urocortin I
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002679	"Urocortin is a protein that in humans is encoded by the UCN gene.[1][2][3] This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain, it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II.[3] Urocortin is a potent anorexigenic peptide of 40 amino acids that induces fed-like motor activity when administered centrally or peripherally in fasted animals. Urocortin belongs to the corticotropin-releasing factor (CRF) family that includes CRF, urotensin I, sauvagine, urocortin II and urocortin III. Urocortin is also a potent and long-lasting hypotensive agent and increases coronary blood flow." []	2024397	\N	\N	EFO	4	EFO	material entity	urocortin I
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002679	"Urocortin is a protein that in humans is encoded by the UCN gene.[1][2][3] This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain, it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II.[3] Urocortin is a potent anorexigenic peptide of 40 amino acids that induces fed-like motor activity when administered centrally or peripherally in fasted animals. Urocortin belongs to the corticotropin-releasing factor (CRF) family that includes CRF, urotensin I, sauvagine, urocortin II and urocortin III. Urocortin is also a potent and long-lasting hypotensive agent and increases coronary blood flow." []	3177525	\N	\N	EFO	5	EFO	experimental factor	urocortin I
EFO:0002680	\N	\N	"Urocortin 2 (Ucn2) is an endogenous peptide in the corticotrophin-releasing factor (CRF) family.[1] Immunohistochemistry analysis of human myocytes has shown greater immunoreactivity of Ucn2 in myocytes of the failing heart compared to those of the healthy heart. Researchers suggest this is a result of an innate mechanism in which Ucn2 acts to improve function of the failing heart [2]. The pathophysiology of heart failure is often a consequence of improper calcium handling and relaxation resulting in a lower cardiac output, decreased blood flow and overall decreased heart function [3]. Infusion of Ucn2 in healthy humans has shown a dose dependent increase in cardiac output, heart rate and left ventricle ejection fraction and a decrease in systemic vascular resistance [4]. Ucn2 has been studied as potential treatment for individuals with heart failure." []	EFO:0002680	"Urocortin 2 (Ucn2) is an endogenous peptide in the corticotrophin-releasing factor (CRF) family.[1] Immunohistochemistry analysis of human myocytes has shown greater immunoreactivity of Ucn2 in myocytes of the failing heart compared to those of the healthy heart. Researchers suggest this is a result of an innate mechanism in which Ucn2 acts to improve function of the failing heart [2]. The pathophysiology of heart failure is often a consequence of improper calcium handling and relaxation resulting in a lower cardiac output, decreased blood flow and overall decreased heart function [3]. Infusion of Ucn2 in healthy humans has shown a dose dependent increase in cardiac output, heart rate and left ventricle ejection fraction and a decrease in systemic vascular resistance [4]. Ucn2 has been studied as potential treatment for individuals with heart failure." []	65367	\N	\N	EFO	0	EFO	urocortin II	urocortin II
CHEBI:36080	EFO:0002680	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0002680	"Urocortin 2 (Ucn2) is an endogenous peptide in the corticotrophin-releasing factor (CRF) family.[1] Immunohistochemistry analysis of human myocytes has shown greater immunoreactivity of Ucn2 in myocytes of the failing heart compared to those of the healthy heart. Researchers suggest this is a result of an innate mechanism in which Ucn2 acts to improve function of the failing heart [2]. The pathophysiology of heart failure is often a consequence of improper calcium handling and relaxation resulting in a lower cardiac output, decreased blood flow and overall decreased heart function [3]. Infusion of Ucn2 in healthy humans has shown a dose dependent increase in cardiac output, heart rate and left ventricle ejection fraction and a decrease in systemic vascular resistance [4]. Ucn2 has been studied as potential treatment for individuals with heart failure." []	206348	\N	\N	EFO	1	EFO	protein	urocortin II
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0002680	"Urocortin 2 (Ucn2) is an endogenous peptide in the corticotrophin-releasing factor (CRF) family.[1] Immunohistochemistry analysis of human myocytes has shown greater immunoreactivity of Ucn2 in myocytes of the failing heart compared to those of the healthy heart. Researchers suggest this is a result of an innate mechanism in which Ucn2 acts to improve function of the failing heart [2]. The pathophysiology of heart failure is often a consequence of improper calcium handling and relaxation resulting in a lower cardiac output, decreased blood flow and overall decreased heart function [3]. Infusion of Ucn2 in healthy humans has shown a dose dependent increase in cardiac output, heart rate and left ventricle ejection fraction and a decrease in systemic vascular resistance [4]. Ucn2 has been studied as potential treatment for individuals with heart failure." []	559461	\N	\N	EFO	2	EFO	chemical compound	urocortin II
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0002680	"Urocortin 2 (Ucn2) is an endogenous peptide in the corticotrophin-releasing factor (CRF) family.[1] Immunohistochemistry analysis of human myocytes has shown greater immunoreactivity of Ucn2 in myocytes of the failing heart compared to those of the healthy heart. Researchers suggest this is a result of an innate mechanism in which Ucn2 acts to improve function of the failing heart [2]. The pathophysiology of heart failure is often a consequence of improper calcium handling and relaxation resulting in a lower cardiac output, decreased blood flow and overall decreased heart function [3]. Infusion of Ucn2 in healthy humans has shown a dose dependent increase in cardiac output, heart rate and left ventricle ejection fraction and a decrease in systemic vascular resistance [4]. Ucn2 has been studied as potential treatment for individuals with heart failure." []	1141450	\N	\N	EFO	3	EFO	chemical entity	urocortin II
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002680	"Urocortin 2 (Ucn2) is an endogenous peptide in the corticotrophin-releasing factor (CRF) family.[1] Immunohistochemistry analysis of human myocytes has shown greater immunoreactivity of Ucn2 in myocytes of the failing heart compared to those of the healthy heart. Researchers suggest this is a result of an innate mechanism in which Ucn2 acts to improve function of the failing heart [2]. The pathophysiology of heart failure is often a consequence of improper calcium handling and relaxation resulting in a lower cardiac output, decreased blood flow and overall decreased heart function [3]. Infusion of Ucn2 in healthy humans has shown a dose dependent increase in cardiac output, heart rate and left ventricle ejection fraction and a decrease in systemic vascular resistance [4]. Ucn2 has been studied as potential treatment for individuals with heart failure." []	2024398	\N	\N	EFO	4	EFO	material entity	urocortin II
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002680	"Urocortin 2 (Ucn2) is an endogenous peptide in the corticotrophin-releasing factor (CRF) family.[1] Immunohistochemistry analysis of human myocytes has shown greater immunoreactivity of Ucn2 in myocytes of the failing heart compared to those of the healthy heart. Researchers suggest this is a result of an innate mechanism in which Ucn2 acts to improve function of the failing heart [2]. The pathophysiology of heart failure is often a consequence of improper calcium handling and relaxation resulting in a lower cardiac output, decreased blood flow and overall decreased heart function [3]. Infusion of Ucn2 in healthy humans has shown a dose dependent increase in cardiac output, heart rate and left ventricle ejection fraction and a decrease in systemic vascular resistance [4]. Ucn2 has been studied as potential treatment for individuals with heart failure." []	3177526	\N	\N	EFO	5	EFO	experimental factor	urocortin II
EFO:0002682	\N	\N	"" []	EFO:0002682	"" []	65368	\N	\N	EFO	0	EFO	third instar larva stage	third instar larva stage
EFO:0005651	EFO:0002682	\N	"" []	EFO:0002682	"" []	206349	\N	\N	EFO	1	EFO	drosophila developmental stage	third instar larva stage
EFO:0000399	EFO:0005651	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002682	"" []	559462	\N	\N	EFO	2	EFO	developmental stage	third instar larva stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002682	"" []	1141451	\N	\N	EFO	3	EFO	process	third instar larva stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002682	"" []	2024399	\N	\N	EFO	4	EFO	experimental factor	third instar larva stage
EFO:0002683	\N	\N	"" []	EFO:0002683	"" []	65369	\N	\N	EFO	0	EFO	floral transition	floral transition
EFO:0000399	EFO:0002683	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002683	"" []	206350	\N	\N	EFO	1	EFO	developmental stage	floral transition
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002683	"" []	559463	\N	\N	EFO	2	EFO	process	floral transition
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002683	"" []	1141452	\N	\N	EFO	3	EFO	experimental factor	floral transition
EFO:0002686	\N	\N	"Atopy is an exaggerated IgE-mediated immune response; all atopic disorders are type I hypersensitivity disorders. Not all allergic diseases are atopic.\\nSource: Merck Manual" []	EFO:0002686	"Atopy is an exaggerated IgE-mediated immune response; all atopic disorders are type I hypersensitivity disorders. Not all allergic diseases are atopic.\\nSource: Merck Manual" []	65370	\N	\N	EFO	0	EFO	atopy	atopy
EFO:0003785	EFO:0002686	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0002686	"Atopy is an exaggerated IgE-mediated immune response; all atopic disorders are type I hypersensitivity disorders. Not all allergic diseases are atopic.\\nSource: Merck Manual" []	206351	\N	\N	EFO	1	EFO	allergy	atopy
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0002686	"Atopy is an exaggerated IgE-mediated immune response; all atopic disorders are type I hypersensitivity disorders. Not all allergic diseases are atopic.\\nSource: Merck Manual" []	559464	\N	\N	EFO	2	EFO	immune system disease	atopy
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002686	"Atopy is an exaggerated IgE-mediated immune response; all atopic disorders are type I hypersensitivity disorders. Not all allergic diseases are atopic.\\nSource: Merck Manual" []	1141453	\N	\N	EFO	3	EFO	disease	atopy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002686	"Atopy is an exaggerated IgE-mediated immune response; all atopic disorders are type I hypersensitivity disorders. Not all allergic diseases are atopic.\\nSource: Merck Manual" []	2024400	\N	\N	EFO	4	EFO	disposition	atopy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002686	"Atopy is an exaggerated IgE-mediated immune response; all atopic disorders are type I hypersensitivity disorders. Not all allergic diseases are atopic.\\nSource: Merck Manual" []	3177527	\N	\N	EFO	5	EFO	material property	atopy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002686	"Atopy is an exaggerated IgE-mediated immune response; all atopic disorders are type I hypersensitivity disorders. Not all allergic diseases are atopic.\\nSource: Merck Manual" []	4387789	\N	\N	EFO	6	EFO	experimental factor	atopy
EFO:0002687	\N	\N	"Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations elicited by ischaemia and reperfusion (I/R). The inflammatory mediators released as a consequence of reperfusion also appear to activate endothelial cells in remote organs that are not exposed to the initial ischaemic insult. This distant response to I/R can result in leukocyte-dependent microvascular injury that is characteristic of the multiple organ dysfunction syndrome. Adaptational responses to I/R injury have been demonstrated that allow for protection of briefly ischaemic tissues against the harmful effects of subsequent, prolonged ischaemia, a phenomenon called ischaemic preconditioning." []	EFO:0002687	"Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations elicited by ischaemia and reperfusion (I/R). The inflammatory mediators released as a consequence of reperfusion also appear to activate endothelial cells in remote organs that are not exposed to the initial ischaemic insult. This distant response to I/R can result in leukocyte-dependent microvascular injury that is characteristic of the multiple organ dysfunction syndrome. Adaptational responses to I/R injury have been demonstrated that allow for protection of briefly ischaemic tissues against the harmful effects of subsequent, prolonged ischaemia, a phenomenon called ischaemic preconditioning." []	65371	\N	\N	EFO	0	EFO	ischemia reperfusion injury	ischemia reperfusion injury
EFO:0000318	EFO:0002687	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:0002687	"Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations elicited by ischaemia and reperfusion (I/R). The inflammatory mediators released as a consequence of reperfusion also appear to activate endothelial cells in remote organs that are not exposed to the initial ischaemic insult. This distant response to I/R can result in leukocyte-dependent microvascular injury that is characteristic of the multiple organ dysfunction syndrome. Adaptational responses to I/R injury have been demonstrated that allow for protection of briefly ischaemic tissues against the harmful effects of subsequent, prolonged ischaemia, a phenomenon called ischaemic preconditioning." []	206352	\N	\N	EFO	1	EFO	cardiomyopathy	ischemia reperfusion injury
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0002687	"Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations elicited by ischaemia and reperfusion (I/R). The inflammatory mediators released as a consequence of reperfusion also appear to activate endothelial cells in remote organs that are not exposed to the initial ischaemic insult. This distant response to I/R can result in leukocyte-dependent microvascular injury that is characteristic of the multiple organ dysfunction syndrome. Adaptational responses to I/R injury have been demonstrated that allow for protection of briefly ischaemic tissues against the harmful effects of subsequent, prolonged ischaemia, a phenomenon called ischaemic preconditioning." []	559465	\N	\N	EFO	2	EFO	heart disease	ischemia reperfusion injury
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0002687	"Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations elicited by ischaemia and reperfusion (I/R). The inflammatory mediators released as a consequence of reperfusion also appear to activate endothelial cells in remote organs that are not exposed to the initial ischaemic insult. This distant response to I/R can result in leukocyte-dependent microvascular injury that is characteristic of the multiple organ dysfunction syndrome. Adaptational responses to I/R injury have been demonstrated that allow for protection of briefly ischaemic tissues against the harmful effects of subsequent, prolonged ischaemia, a phenomenon called ischaemic preconditioning." []	1141454	\N	\N	EFO	3	EFO	cardiovascular disease	ischemia reperfusion injury
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002687	"Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations elicited by ischaemia and reperfusion (I/R). The inflammatory mediators released as a consequence of reperfusion also appear to activate endothelial cells in remote organs that are not exposed to the initial ischaemic insult. This distant response to I/R can result in leukocyte-dependent microvascular injury that is characteristic of the multiple organ dysfunction syndrome. Adaptational responses to I/R injury have been demonstrated that allow for protection of briefly ischaemic tissues against the harmful effects of subsequent, prolonged ischaemia, a phenomenon called ischaemic preconditioning." []	2024401	\N	\N	EFO	4	EFO	disease	ischemia reperfusion injury
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002687	"Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations elicited by ischaemia and reperfusion (I/R). The inflammatory mediators released as a consequence of reperfusion also appear to activate endothelial cells in remote organs that are not exposed to the initial ischaemic insult. This distant response to I/R can result in leukocyte-dependent microvascular injury that is characteristic of the multiple organ dysfunction syndrome. Adaptational responses to I/R injury have been demonstrated that allow for protection of briefly ischaemic tissues against the harmful effects of subsequent, prolonged ischaemia, a phenomenon called ischaemic preconditioning." []	3177528	\N	\N	EFO	5	EFO	disposition	ischemia reperfusion injury
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002687	"Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations elicited by ischaemia and reperfusion (I/R). The inflammatory mediators released as a consequence of reperfusion also appear to activate endothelial cells in remote organs that are not exposed to the initial ischaemic insult. This distant response to I/R can result in leukocyte-dependent microvascular injury that is characteristic of the multiple organ dysfunction syndrome. Adaptational responses to I/R injury have been demonstrated that allow for protection of briefly ischaemic tissues against the harmful effects of subsequent, prolonged ischaemia, a phenomenon called ischaemic preconditioning." []	4387790	\N	\N	EFO	6	EFO	material property	ischemia reperfusion injury
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002687	"Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations elicited by ischaemia and reperfusion (I/R). The inflammatory mediators released as a consequence of reperfusion also appear to activate endothelial cells in remote organs that are not exposed to the initial ischaemic insult. This distant response to I/R can result in leukocyte-dependent microvascular injury that is characteristic of the multiple organ dysfunction syndrome. Adaptational responses to I/R injury have been demonstrated that allow for protection of briefly ischaemic tissues against the harmful effects of subsequent, prolonged ischaemia, a phenomenon called ischaemic preconditioning." []	5408624	\N	\N	EFO	7	EFO	experimental factor	ischemia reperfusion injury
EFO:0002689	\N	\N	"An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies, including lupus anticoagulant (LAC), anticardiolipin (aCL) antibody, and anti-beta-2glycoprotein I antibody, directed against membrane anionic phospholipids.\\n" []	EFO:0002689	"An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies, including lupus anticoagulant (LAC), anticardiolipin (aCL) antibody, and anti-beta-2glycoprotein I antibody, directed against membrane anionic phospholipids.\\n" []	65372	\N	\N	EFO	0	EFO	antiphospholipid syndrome	antiphospholipid syndrome
EFO:0005140	EFO:0002689	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0002689	"An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies, including lupus anticoagulant (LAC), anticardiolipin (aCL) antibody, and anti-beta-2glycoprotein I antibody, directed against membrane anionic phospholipids.\\n" []	206353	\N	\N	EFO	1	EFO	autoimmune disease	antiphospholipid syndrome
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0002689	"An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies, including lupus anticoagulant (LAC), anticardiolipin (aCL) antibody, and anti-beta-2glycoprotein I antibody, directed against membrane anionic phospholipids.\\n" []	559466	\N	\N	EFO	2	EFO	immune system disease	antiphospholipid syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002689	"An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies, including lupus anticoagulant (LAC), anticardiolipin (aCL) antibody, and anti-beta-2glycoprotein I antibody, directed against membrane anionic phospholipids.\\n" []	1141455	\N	\N	EFO	3	EFO	disease	antiphospholipid syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002689	"An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies, including lupus anticoagulant (LAC), anticardiolipin (aCL) antibody, and anti-beta-2glycoprotein I antibody, directed against membrane anionic phospholipids.\\n" []	2024402	\N	\N	EFO	4	EFO	disposition	antiphospholipid syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002689	"An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies, including lupus anticoagulant (LAC), anticardiolipin (aCL) antibody, and anti-beta-2glycoprotein I antibody, directed against membrane anionic phospholipids.\\n" []	3177529	\N	\N	EFO	5	EFO	material property	antiphospholipid syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002689	"An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies, including lupus anticoagulant (LAC), anticardiolipin (aCL) antibody, and anti-beta-2glycoprotein I antibody, directed against membrane anionic phospholipids.\\n" []	4387791	\N	\N	EFO	6	EFO	experimental factor	antiphospholipid syndrome
EFO:0002690	\N	\N	"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []	EFO:0002690	"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []	65373	\N	\N	EFO	0	EFO	systemic lupus erythematosus	systemic lupus erythematosus
EFO:0005140	EFO:0002690	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0002690	"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []	206354	\N	\N	EFO	1	EFO	autoimmune disease	systemic lupus erythematosus
EFO:0005755	EFO:0002690	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0002690	"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []	206355	\N	\N	EFO	1	EFO	rheumatic disease	systemic lupus erythematosus
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0002690	"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []	559467	\N	\N	EFO	2	EFO	immune system disease	systemic lupus erythematosus
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0002690	"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []	559468	\N	\N	EFO	2	EFO	skeletal system disease	systemic lupus erythematosus
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002690	"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []	1141456	\N	\N	EFO	3	EFO	disease	systemic lupus erythematosus
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002690	"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []	1141457	\N	\N	EFO	3	EFO	disease	systemic lupus erythematosus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002690	"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []	2024403	\N	\N	EFO	4	EFO	disposition	systemic lupus erythematosus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002690	"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []	3177530	\N	\N	EFO	5	EFO	material property	systemic lupus erythematosus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002690	"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []	4387792	\N	\N	EFO	6	EFO	experimental factor	systemic lupus erythematosus
EFO:0002691	\N	\N	"" []	EFO:0002691	"" []	65374	\N	\N	EFO	0	EFO	retinal ganglion	retinal ganglion
UBERON:0000045	\N	\N	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	EFO:0002691	"" []	194577	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	ganglion	retinal ganglion
EFO:0002692	\N	\N	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	65375	\N	\N	EFO	0	EFO	ChIP-seq	ChIP-seq
EFO:0001456	EFO:0002692	\N	"An assay with input DNA" []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	206356	\N	\N	EFO	1	EFO	DNA assay	ChIP-seq
EFO:0005032	EFO:0002692	\N	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	206357	\N	\N	EFO	1	EFO	IP-seq	ChIP-seq
EFO:0002772	EFO:0001456	\N	"" []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	559469	\N	\N	EFO	2	EFO	assay by molecule	ChIP-seq
EFO:0002697	EFO:0005032	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	559470	\N	\N	EFO	2	EFO	assay by high throughput sequencer	ChIP-seq
EFO:0004120	EFO:0005032	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	559471	\N	\N	EFO	2	EFO	ArrayExpress experiment type	ChIP-seq
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	1141458	\N	\N	EFO	3	EFO	assay	ChIP-seq
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	1141459	\N	\N	EFO	3	EFO	assay by sequencer	ChIP-seq
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	1141460	\N	\N	EFO	3	EFO	experimental process	ChIP-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	4387793	\N	\N	EFO	6	EFO	experimental process	ChIP-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	2024405	\N	\N	EFO	4	EFO	assay by instrument	ChIP-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	5059319	\N	\N	EFO	7	EFO	planned process	ChIP-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	3177532	\N	\N	EFO	5	EFO	assay	ChIP-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	5817354	\N	\N	EFO	8	EFO	process	ChIP-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002692	"ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins." []	6409738	\N	\N	EFO	9	EFO	experimental factor	ChIP-seq
EFO:0002693	\N	\N	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	65376	\N	\N	EFO	0	EFO	DNA-seq	DNA-seq
EFO:0001456	EFO:0002693	\N	"An assay with input DNA" []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	206358	\N	\N	EFO	1	EFO	DNA assay	DNA-seq
EFO:0002770	EFO:0002693	\N	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	206359	\N	\N	EFO	1	EFO	transcription profiling by high throughput sequencing	DNA-seq
EFO:0002772	EFO:0001456	\N	"" []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	559472	\N	\N	EFO	2	EFO	assay by molecule	DNA-seq
EFO:0001032	EFO:0002770	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	559473	\N	\N	EFO	2	EFO	transcription profiling	DNA-seq
EFO:0001457	EFO:0002770	\N	"An assay with input RNA" []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	559474	\N	\N	EFO	2	EFO	RNA assay	DNA-seq
EFO:0002697	EFO:0002770	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	559475	\N	\N	EFO	2	EFO	assay by high throughput sequencer	DNA-seq
EFO:0004120	EFO:0002770	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	559476	\N	\N	EFO	2	EFO	ArrayExpress experiment type	DNA-seq
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	2024409	\N	\N	EFO	4	EFO	assay	DNA-seq
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	1141462	\N	\N	EFO	3	EFO	experimental process	DNA-seq
EFO:0002772	EFO:0001457	\N	"" []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	1141463	\N	\N	EFO	3	EFO	assay by molecule	DNA-seq
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	1141464	\N	\N	EFO	3	EFO	assay by sequencer	DNA-seq
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	1141465	\N	\N	EFO	3	EFO	experimental process	DNA-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	4387796	\N	\N	EFO	6	EFO	experimental process	DNA-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	5059320	\N	\N	EFO	7	EFO	planned process	DNA-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	2024410	\N	\N	EFO	4	EFO	assay by instrument	DNA-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	5817355	\N	\N	EFO	8	EFO	process	DNA-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	3177536	\N	\N	EFO	5	EFO	assay	DNA-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002693	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	6409739	\N	\N	EFO	9	EFO	experimental factor	DNA-seq
EFO:0002694	\N	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002694	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	65377	\N	\N	EFO	0	EFO	experimental process	experimental process
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002694	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	206360	\N	\N	EFO	1	EFO	planned process	experimental process
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002694	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	559477	\N	\N	EFO	2	EFO	process	experimental process
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002694	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	1141466	\N	\N	EFO	3	EFO	experimental factor	experimental process
EFO:0002696	\N	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0002696	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	65378	\N	\N	EFO	0	EFO	assay by array	assay by array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0002696	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	206361	\N	\N	EFO	1	EFO	assay by instrument	assay by array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002696	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	559478	\N	\N	EFO	2	EFO	assay	assay by array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002696	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	1141467	\N	\N	EFO	3	EFO	experimental process	assay by array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002696	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	2024411	\N	\N	EFO	4	EFO	planned process	assay by array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002696	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	3177537	\N	\N	EFO	5	EFO	process	assay by array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002696	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	4387797	\N	\N	EFO	6	EFO	experimental factor	assay by array
EFO:0002697	\N	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0002697	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	65379	\N	\N	EFO	0	EFO	assay by high throughput sequencer	assay by high throughput sequencer
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0002697	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	206362	\N	\N	EFO	1	EFO	assay by sequencer	assay by high throughput sequencer
EFO:0002773	EFO:0003740	\N	"" []	EFO:0002697	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	559479	\N	\N	EFO	2	EFO	assay by instrument	assay by high throughput sequencer
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002697	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	1141468	\N	\N	EFO	3	EFO	assay	assay by high throughput sequencer
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002697	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	2024412	\N	\N	EFO	4	EFO	experimental process	assay by high throughput sequencer
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002697	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	3177538	\N	\N	EFO	5	EFO	planned process	assay by high throughput sequencer
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002697	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	4387798	\N	\N	EFO	6	EFO	process	assay by high throughput sequencer
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002697	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	5408625	\N	\N	EFO	7	EFO	experimental factor	assay by high throughput sequencer
EFO:0002698	\N	\N	"An instrument which consists of nucleic acid or protein molecules bound to a substrate" []	EFO:0002698	"An instrument which consists of nucleic acid or protein molecules bound to a substrate" []	65380	\N	\N	EFO	0	EFO	array	array
EFO:0000548	EFO:0002698	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0002698	"An instrument which consists of nucleic acid or protein molecules bound to a substrate" []	206363	\N	\N	EFO	1	EFO	instrument	array
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002698	"An instrument which consists of nucleic acid or protein molecules bound to a substrate" []	559480	\N	\N	EFO	2	EFO	material entity	array
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002698	"An instrument which consists of nucleic acid or protein molecules bound to a substrate" []	1141469	\N	\N	EFO	3	EFO	experimental factor	array
EFO:0002699	\N	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0002699	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	65381	\N	\N	EFO	0	EFO	high throughput sequencer	high throughput sequencer
EFO:0003739	EFO:0002699	\N	"" []	EFO:0002699	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	206364	\N	\N	EFO	1	EFO	sequencer	high throughput sequencer
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0002699	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	559481	\N	\N	EFO	2	EFO	instrument	high throughput sequencer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002699	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	1141470	\N	\N	EFO	3	EFO	material entity	high throughput sequencer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002699	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	2024413	\N	\N	EFO	4	EFO	experimental factor	high throughput sequencer
EFO:0002701	\N	\N	"An array consisting of DNA probes bound to a substrate" []	EFO:0002701	"An array consisting of DNA probes bound to a substrate" []	65382	\N	\N	EFO	0	EFO	DNA array	DNA array
EFO:0002698	EFO:0002701	\N	"An instrument which consists of nucleic acid or protein molecules bound to a substrate" []	EFO:0002701	"An array consisting of DNA probes bound to a substrate" []	206365	\N	\N	EFO	1	EFO	array	DNA array
EFO:0000548	EFO:0002698	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0002701	"An array consisting of DNA probes bound to a substrate" []	559482	\N	\N	EFO	2	EFO	instrument	DNA array
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002701	"An array consisting of DNA probes bound to a substrate" []	1141471	\N	\N	EFO	3	EFO	material entity	DNA array
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002701	"An array consisting of DNA probes bound to a substrate" []	2024414	\N	\N	EFO	4	EFO	experimental factor	DNA array
EFO:0002702	\N	\N	"A protein array is an array which provides a multiplex approach to identify protein-protein interactions, to identify the substrates of protein kinases, to identify transcription factor protein-activation, or to identify the targets of biologically active small molecules. The array is a substrate (e.g. glass) on which different molecules of protein or specific DNA binding sequences (as capture probes for the proteins) have been affixed at separate locations in an ordered manner thus forming a microscopic array. The most common protein microarray is the antibody microarray, where antibodies are spotted onto the protein chip and are used as capture molecules to detect proteins from cell lysate solutions." []	EFO:0002702	"A protein array is an array which provides a multiplex approach to identify protein-protein interactions, to identify the substrates of protein kinases, to identify transcription factor protein-activation, or to identify the targets of biologically active small molecules. The array is a substrate (e.g. glass) on which different molecules of protein or specific DNA binding sequences (as capture probes for the proteins) have been affixed at separate locations in an ordered manner thus forming a microscopic array. The most common protein microarray is the antibody microarray, where antibodies are spotted onto the protein chip and are used as capture molecules to detect proteins from cell lysate solutions." []	65383	\N	\N	EFO	0	EFO	protein array	protein array
EFO:0002698	EFO:0002702	\N	"An instrument which consists of nucleic acid or protein molecules bound to a substrate" []	EFO:0002702	"A protein array is an array which provides a multiplex approach to identify protein-protein interactions, to identify the substrates of protein kinases, to identify transcription factor protein-activation, or to identify the targets of biologically active small molecules. The array is a substrate (e.g. glass) on which different molecules of protein or specific DNA binding sequences (as capture probes for the proteins) have been affixed at separate locations in an ordered manner thus forming a microscopic array. The most common protein microarray is the antibody microarray, where antibodies are spotted onto the protein chip and are used as capture molecules to detect proteins from cell lysate solutions." []	206366	\N	\N	EFO	1	EFO	array	protein array
EFO:0000548	EFO:0002698	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0002702	"A protein array is an array which provides a multiplex approach to identify protein-protein interactions, to identify the substrates of protein kinases, to identify transcription factor protein-activation, or to identify the targets of biologically active small molecules. The array is a substrate (e.g. glass) on which different molecules of protein or specific DNA binding sequences (as capture probes for the proteins) have been affixed at separate locations in an ordered manner thus forming a microscopic array. The most common protein microarray is the antibody microarray, where antibodies are spotted onto the protein chip and are used as capture molecules to detect proteins from cell lysate solutions." []	559483	\N	\N	EFO	2	EFO	instrument	protein array
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002702	"A protein array is an array which provides a multiplex approach to identify protein-protein interactions, to identify the substrates of protein kinases, to identify transcription factor protein-activation, or to identify the targets of biologically active small molecules. The array is a substrate (e.g. glass) on which different molecules of protein or specific DNA binding sequences (as capture probes for the proteins) have been affixed at separate locations in an ordered manner thus forming a microscopic array. The most common protein microarray is the antibody microarray, where antibodies are spotted onto the protein chip and are used as capture molecules to detect proteins from cell lysate solutions." []	1141472	\N	\N	EFO	3	EFO	material entity	protein array
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002702	"A protein array is an array which provides a multiplex approach to identify protein-protein interactions, to identify the substrates of protein kinases, to identify transcription factor protein-activation, or to identify the targets of biologically active small molecules. The array is a substrate (e.g. glass) on which different molecules of protein or specific DNA binding sequences (as capture probes for the proteins) have been affixed at separate locations in an ordered manner thus forming a microscopic array. The most common protein microarray is the antibody microarray, where antibodies are spotted onto the protein chip and are used as capture molecules to detect proteins from cell lysate solutions." []	2024415	\N	\N	EFO	4	EFO	experimental factor	protein array
EFO:0002703	\N	\N	"SNP array is a DNA array used to detect polymorphisms in DNA samples" []	EFO:0002703	"SNP array is a DNA array used to detect polymorphisms in DNA samples" []	65384	\N	\N	EFO	0	EFO	SNP array	SNP array
EFO:0002701	EFO:0002703	\N	"An array consisting of DNA probes bound to a substrate" []	EFO:0002703	"SNP array is a DNA array used to detect polymorphisms in DNA samples" []	206367	\N	\N	EFO	1	EFO	DNA array	SNP array
EFO:0002698	EFO:0002701	\N	"An instrument which consists of nucleic acid or protein molecules bound to a substrate" []	EFO:0002703	"SNP array is a DNA array used to detect polymorphisms in DNA samples" []	559484	\N	\N	EFO	2	EFO	array	SNP array
EFO:0000548	EFO:0002698	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0002703	"SNP array is a DNA array used to detect polymorphisms in DNA samples" []	1141473	\N	\N	EFO	3	EFO	instrument	SNP array
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002703	"SNP array is a DNA array used to detect polymorphisms in DNA samples" []	2024416	\N	\N	EFO	4	EFO	material entity	SNP array
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002703	"SNP array is a DNA array used to detect polymorphisms in DNA samples" []	3177539	\N	\N	EFO	5	EFO	experimental factor	SNP array
EFO:0002704	\N	\N	"A tiling array is an array which has short fragments of nucleic acid immobilized on a substrate. These are designed to cover the whole genome of the target species. Tiling arrays are used to determine genome binding in ChIP assays or to identify transcribed regions." []	EFO:0002704	"A tiling array is an array which has short fragments of nucleic acid immobilized on a substrate. These are designed to cover the whole genome of the target species. Tiling arrays are used to determine genome binding in ChIP assays or to identify transcribed regions." []	65385	\N	\N	EFO	0	EFO	tiling array	tiling array
EFO:0002701	EFO:0002704	\N	"An array consisting of DNA probes bound to a substrate" []	EFO:0002704	"A tiling array is an array which has short fragments of nucleic acid immobilized on a substrate. These are designed to cover the whole genome of the target species. Tiling arrays are used to determine genome binding in ChIP assays or to identify transcribed regions." []	206368	\N	\N	EFO	1	EFO	DNA array	tiling array
EFO:0002698	EFO:0002701	\N	"An instrument which consists of nucleic acid or protein molecules bound to a substrate" []	EFO:0002704	"A tiling array is an array which has short fragments of nucleic acid immobilized on a substrate. These are designed to cover the whole genome of the target species. Tiling arrays are used to determine genome binding in ChIP assays or to identify transcribed regions." []	559485	\N	\N	EFO	2	EFO	array	tiling array
EFO:0000548	EFO:0002698	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0002704	"A tiling array is an array which has short fragments of nucleic acid immobilized on a substrate. These are designed to cover the whole genome of the target species. Tiling arrays are used to determine genome binding in ChIP assays or to identify transcribed regions." []	1141474	\N	\N	EFO	3	EFO	instrument	tiling array
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002704	"A tiling array is an array which has short fragments of nucleic acid immobilized on a substrate. These are designed to cover the whole genome of the target species. Tiling arrays are used to determine genome binding in ChIP assays or to identify transcribed regions." []	2024417	\N	\N	EFO	4	EFO	material entity	tiling array
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002704	"A tiling array is an array which has short fragments of nucleic acid immobilized on a substrate. These are designed to cover the whole genome of the target species. Tiling arrays are used to determine genome binding in ChIP assays or to identify transcribed regions." []	3177540	\N	\N	EFO	5	EFO	experimental factor	tiling array
EFO:0002705	\N	\N	"" []	EFO:0002705	"" []	65386	\N	\N	EFO	0	EFO	HPL1B	HPL1B
EFO:0001641	EFO:0002705	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002705	"" []	206369	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HPL1B
EFO:0002888	EFO:0002705	\N	"" []	EFO:0002705	"" []	206370	\N	\N	EFO	1	EFO	Homo sapiens cell line	HPL1B
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002705	"" []	559486	\N	\N	EFO	2	EFO	cell line	HPL1B
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002705	"" []	559487	\N	\N	EFO	2	EFO	cell line	HPL1B
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002705	"" []	1141475	\N	\N	EFO	3	EFO	material entity	HPL1B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002705	"" []	2024418	\N	\N	EFO	4	EFO	experimental factor	HPL1B
EFO:0002706	\N	\N	"" []	EFO:0002706	"" []	65387	\N	\N	EFO	0	EFO	SM1	SM1
EFO:0002888	EFO:0002706	\N	"" []	EFO:0002706	"" []	206371	\N	\N	EFO	1	EFO	Homo sapiens cell line	SM1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002706	"" []	559488	\N	\N	EFO	2	EFO	cell line	SM1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002706	"" []	1141476	\N	\N	EFO	3	EFO	material entity	SM1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002706	"" []	2024419	\N	\N	EFO	4	EFO	experimental factor	SM1
EFO:0002707	\N	\N	"" []	EFO:0002707	"" []	65388	\N	\N	EFO	0	EFO	NT-1	NT-1
EFO:0002888	EFO:0002707	\N	"" []	EFO:0002707	"" []	206372	\N	\N	EFO	1	EFO	Homo sapiens cell line	NT-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002707	"" []	559489	\N	\N	EFO	2	EFO	cell line	NT-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002707	"" []	1141477	\N	\N	EFO	3	EFO	material entity	NT-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002707	"" []	2024420	\N	\N	EFO	4	EFO	experimental factor	NT-1
EFO:0002708	\N	\N	"A SCN2.2 is a cell line.\\nA SCN2.2 is both something that derives from a rattus norvegicus, and something that derives from a \\nsuprachiasmatic nucleus." []	EFO:0002708	"A SCN2.2 is a cell line.\\nA SCN2.2 is both something that derives from a rattus norvegicus, and something that derives from a \\nsuprachiasmatic nucleus." []	65389	\N	\N	EFO	0	EFO	SCN2.2	SCN2.2
EFO:0002936	EFO:0002708	\N	"Cell lines derived from rats." []	EFO:0002708	"A SCN2.2 is a cell line.\\nA SCN2.2 is both something that derives from a rattus norvegicus, and something that derives from a \\nsuprachiasmatic nucleus." []	206373	\N	\N	EFO	1	EFO	rat cell line	SCN2.2
EFO:0000322	EFO:0002936	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002708	"A SCN2.2 is a cell line.\\nA SCN2.2 is both something that derives from a rattus norvegicus, and something that derives from a \\nsuprachiasmatic nucleus." []	559490	\N	\N	EFO	2	EFO	cell line	SCN2.2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002708	"A SCN2.2 is a cell line.\\nA SCN2.2 is both something that derives from a rattus norvegicus, and something that derives from a \\nsuprachiasmatic nucleus." []	1141478	\N	\N	EFO	3	EFO	material entity	SCN2.2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002708	"A SCN2.2 is a cell line.\\nA SCN2.2 is both something that derives from a rattus norvegicus, and something that derives from a \\nsuprachiasmatic nucleus." []	2024421	\N	\N	EFO	4	EFO	experimental factor	SCN2.2
EFO:0002709	\N	\N	"Human pancreatic adenocarcinoma cell line, established from a 61 year old human female." []	EFO:0002709	"Human pancreatic adenocarcinoma cell line, established from a 61 year old human female." []	65390	\N	\N	EFO	0	EFO	BxPC-3	BxPC-3
EFO:0001639	EFO:0002709	\N	"" []	EFO:0002709	"Human pancreatic adenocarcinoma cell line, established from a 61 year old human female." []	206374	\N	\N	EFO	1	EFO	cancer cell line	BxPC-3
EFO:0002888	EFO:0002709	\N	"" []	EFO:0002709	"Human pancreatic adenocarcinoma cell line, established from a 61 year old human female." []	206375	\N	\N	EFO	1	EFO	Homo sapiens cell line	BxPC-3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002709	"Human pancreatic adenocarcinoma cell line, established from a 61 year old human female." []	559491	\N	\N	EFO	2	EFO	cell line	BxPC-3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002709	"Human pancreatic adenocarcinoma cell line, established from a 61 year old human female." []	559492	\N	\N	EFO	2	EFO	cell line	BxPC-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002709	"Human pancreatic adenocarcinoma cell line, established from a 61 year old human female." []	1141479	\N	\N	EFO	3	EFO	material entity	BxPC-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002709	"Human pancreatic adenocarcinoma cell line, established from a 61 year old human female." []	2024422	\N	\N	EFO	4	EFO	experimental factor	BxPC-3
EFO:0002710	\N	\N	"" []	EFO:0002710	"" []	65391	\N	\N	EFO	0	EFO	COLO357	COLO357
EFO:0001639	EFO:0002710	\N	"" []	EFO:0002710	"" []	206376	\N	\N	EFO	1	EFO	cancer cell line	COLO357
EFO:0002888	EFO:0002710	\N	"" []	EFO:0002710	"" []	206377	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO357
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002710	"" []	559493	\N	\N	EFO	2	EFO	cell line	COLO357
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002710	"" []	559494	\N	\N	EFO	2	EFO	cell line	COLO357
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002710	"" []	1141480	\N	\N	EFO	3	EFO	material entity	COLO357
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002710	"" []	2024423	\N	\N	EFO	4	EFO	experimental factor	COLO357
EFO:0002711	\N	\N	"" []	EFO:0002711	"" []	65392	\N	\N	EFO	0	EFO	F13	F13
EFO:0002888	EFO:0002711	\N	"" []	EFO:0002711	"" []	206378	\N	\N	EFO	1	EFO	Homo sapiens cell line	F13
EFO:0002922	EFO:0002711	\N	"" []	EFO:0002711	"" []	206379	\N	\N	EFO	1	EFO	normal cell line	F13
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002711	"" []	559495	\N	\N	EFO	2	EFO	cell line	F13
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002711	"" []	559496	\N	\N	EFO	2	EFO	cell line	F13
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002711	"" []	1141481	\N	\N	EFO	3	EFO	material entity	F13
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002711	"" []	2024424	\N	\N	EFO	4	EFO	experimental factor	F13
EFO:0002712	\N	\N	"A normal pancreas cell line." []	EFO:0002712	"A normal pancreas cell line." []	65393	\N	\N	EFO	0	EFO	KIF5	KIF5
EFO:0002009	EFO:0002712	\N	"" []	EFO:0002712	"A normal pancreas cell line." []	206380	\N	\N	EFO	1	EFO	fibroblast derived cell line	KIF5
EFO:0002888	EFO:0002712	\N	"" []	EFO:0002712	"A normal pancreas cell line." []	206381	\N	\N	EFO	1	EFO	Homo sapiens cell line	KIF5
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002712	"A normal pancreas cell line." []	559497	\N	\N	EFO	2	EFO	cell line	KIF5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002712	"A normal pancreas cell line." []	559498	\N	\N	EFO	2	EFO	cell line	KIF5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002712	"A normal pancreas cell line." []	1141482	\N	\N	EFO	3	EFO	material entity	KIF5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002712	"A normal pancreas cell line." []	2024425	\N	\N	EFO	4	EFO	experimental factor	KIF5
EFO:0002713	\N	\N	"" []	EFO:0002713	"" []	65394	\N	\N	EFO	0	EFO	Panc1	Panc1
EFO:0001639	EFO:0002713	\N	"" []	EFO:0002713	"" []	206382	\N	\N	EFO	1	EFO	cancer cell line	Panc1
EFO:0002888	EFO:0002713	\N	"" []	EFO:0002713	"" []	206383	\N	\N	EFO	1	EFO	Homo sapiens cell line	Panc1
EFO:0002926	EFO:0002713	\N	"" []	EFO:0002713	"" []	206384	\N	\N	EFO	1	EFO	ENCODE cell line	Panc1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002713	"" []	559499	\N	\N	EFO	2	EFO	cell line	Panc1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002713	"" []	559500	\N	\N	EFO	2	EFO	cell line	Panc1
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002713	"" []	559501	\N	\N	EFO	2	EFO	cell line	Panc1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002713	"" []	1141483	\N	\N	EFO	3	EFO	material entity	Panc1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002713	"" []	2024426	\N	\N	EFO	4	EFO	experimental factor	Panc1
EFO:0002714	\N	\N	"" []	EFO:0002714	"" []	65395	\N	\N	EFO	0	EFO	Panc89	Panc89
EFO:0001639	EFO:0002714	\N	"" []	EFO:0002714	"" []	206385	\N	\N	EFO	1	EFO	cancer cell line	Panc89
EFO:0002888	EFO:0002714	\N	"" []	EFO:0002714	"" []	206386	\N	\N	EFO	1	EFO	Homo sapiens cell line	Panc89
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002714	"" []	559502	\N	\N	EFO	2	EFO	cell line	Panc89
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002714	"" []	559503	\N	\N	EFO	2	EFO	cell line	Panc89
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002714	"" []	1141484	\N	\N	EFO	3	EFO	material entity	Panc89
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002714	"" []	2024427	\N	\N	EFO	4	EFO	experimental factor	Panc89
EFO:0002715	\N	\N	"" []	EFO:0002715	"" []	65396	\N	\N	EFO	0	EFO	PancTUI	PancTUI
EFO:0001639	EFO:0002715	\N	"" []	EFO:0002715	"" []	206387	\N	\N	EFO	1	EFO	cancer cell line	PancTUI
EFO:0002888	EFO:0002715	\N	"" []	EFO:0002715	"" []	206388	\N	\N	EFO	1	EFO	Homo sapiens cell line	PancTUI
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002715	"" []	559504	\N	\N	EFO	2	EFO	cell line	PancTUI
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002715	"" []	559505	\N	\N	EFO	2	EFO	cell line	PancTUI
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002715	"" []	1141485	\N	\N	EFO	3	EFO	material entity	PancTUI
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002715	"" []	2024428	\N	\N	EFO	4	EFO	experimental factor	PancTUI
EFO:0002716	\N	\N	"" []	EFO:0002716	"" []	65397	\N	\N	EFO	0	EFO	Pt45P1	Pt45P1
EFO:0001639	EFO:0002716	\N	"" []	EFO:0002716	"" []	206389	\N	\N	EFO	1	EFO	cancer cell line	Pt45P1
EFO:0002888	EFO:0002716	\N	"" []	EFO:0002716	"" []	206390	\N	\N	EFO	1	EFO	Homo sapiens cell line	Pt45P1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002716	"" []	559506	\N	\N	EFO	2	EFO	cell line	Pt45P1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002716	"" []	559507	\N	\N	EFO	2	EFO	cell line	Pt45P1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002716	"" []	1141486	\N	\N	EFO	3	EFO	material entity	Pt45P1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002716	"" []	2024429	\N	\N	EFO	4	EFO	experimental factor	Pt45P1
EFO:0002717	\N	\N	"" []	EFO:0002717	"" []	65398	\N	\N	EFO	0	EFO	SH-SY5Y	SH-SY5Y
EFO:0002888	EFO:0002717	\N	"" []	EFO:0002717	"" []	206391	\N	\N	EFO	1	EFO	Homo sapiens cell line	SH-SY5Y
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002717	"" []	559508	\N	\N	EFO	2	EFO	cell line	SH-SY5Y
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002717	"" []	1141487	\N	\N	EFO	3	EFO	material entity	SH-SY5Y
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002717	"" []	2024430	\N	\N	EFO	4	EFO	experimental factor	SH-SY5Y
EFO:0002718	\N	\N	"" []	EFO:0002718	"" []	65399	\N	\N	EFO	0	EFO	hatching long-pec	hatching long-pec
EFO:0001298	EFO:0002718	\N	"" []	EFO:0002718	"" []	206392	\N	\N	EFO	1	EFO	hatching stage	hatching long-pec
EFO:0000399	EFO:0001298	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002718	"" []	559509	\N	\N	EFO	2	EFO	developmental stage	hatching long-pec
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002718	"" []	1141488	\N	\N	EFO	3	EFO	process	hatching long-pec
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002718	"" []	2024431	\N	\N	EFO	4	EFO	experimental factor	hatching long-pec
EFO:0002719	\N	\N	"C. elegans second stage larva. At 25 Centigrade, it ranges 25.5-32.5 hours after fertilization, 11.5-18.5 hours after hatch." []	EFO:0002719	"C. elegans second stage larva. At 25 Centigrade, it ranges 25.5-32.5 hours after fertilization, 11.5-18.5 hours after hatch." []	65400	\N	\N	EFO	0	EFO	L2 larva	L2 larva
EFO:0007694	EFO:0002719	\N	"Under environmental conditions which are favourable for reproduction, hatched larvae develop through four stages or molts, designated as L1 to L4. When conditions are stressed as in food insufficiency, C. elegans can enter an alternative third larval stage called the dauer state. Dauer is German for permanent. Dauer larvae are stress-resistant; they are thin and their mouths are sealed and cannot take in food, and they can remain in this stage for a few months.[14] Hermaphrodites produce all their sperm in the L4 stage (150 sperm per gonadal arm) and then produce only oocytes. The sperm cells are stored in the same area of the gonad as the oocytes until the first oocyte pushes the sperm into the spermatheca (a chamber wherein the oocytes become fertilized by the sperm)." []	EFO:0002719	"C. elegans second stage larva. At 25 Centigrade, it ranges 25.5-32.5 hours after fertilization, 11.5-18.5 hours after hatch." []	206393	\N	\N	EFO	1	EFO	Caenorhabditis elegans larval stage	L2 larva
EFO:0002720	\N	\N	"C. elegans third stage larva. At 25 Centigrade, it ranges 32.5-40 hours after fertilization, 18.5-26 hours after hatch." []	EFO:0002720	"C. elegans third stage larva. At 25 Centigrade, it ranges 32.5-40 hours after fertilization, 18.5-26 hours after hatch." []	65401	\N	\N	EFO	0	EFO	L3 larva	L3 larva
EFO:0007694	EFO:0002720	\N	"Under environmental conditions which are favourable for reproduction, hatched larvae develop through four stages or molts, designated as L1 to L4. When conditions are stressed as in food insufficiency, C. elegans can enter an alternative third larval stage called the dauer state. Dauer is German for permanent. Dauer larvae are stress-resistant; they are thin and their mouths are sealed and cannot take in food, and they can remain in this stage for a few months.[14] Hermaphrodites produce all their sperm in the L4 stage (150 sperm per gonadal arm) and then produce only oocytes. The sperm cells are stored in the same area of the gonad as the oocytes until the first oocyte pushes the sperm into the spermatheca (a chamber wherein the oocytes become fertilized by the sperm)." []	EFO:0002720	"C. elegans third stage larva. At 25 Centigrade, it ranges 32.5-40 hours after fertilization, 18.5-26 hours after hatch." []	206394	\N	\N	EFO	1	EFO	Caenorhabditis elegans larval stage	L3 larva
EFO:0002721	\N	\N	"" []	EFO:0002721	"" []	65402	\N	\N	EFO	0	EFO	postmenopausal	postmenopausal
EFO:0001272	EFO:0002721	\N	"A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth" []	EFO:0002721	"" []	206395	\N	\N	EFO	1	EFO	adult	postmenopausal
EFO:0000399	EFO:0001272	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002721	"" []	559510	\N	\N	EFO	2	EFO	developmental stage	postmenopausal
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002721	"" []	1141489	\N	\N	EFO	3	EFO	process	postmenopausal
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002721	"" []	2024432	\N	\N	EFO	4	EFO	experimental factor	postmenopausal
EFO:0002739	\N	\N	"C57Bl/10 derived non-diabetic mouse strain expressing H2g7." []	EFO:0002739	"C57Bl/10 derived non-diabetic mouse strain expressing H2g7." []	65403	\N	\N	EFO	0	EFO	B10.NOD_H2g7	B10.NOD_H2g7
EFO:0002547	EFO:0002739	\N	"" []	EFO:0002739	"C57Bl/10 derived non-diabetic mouse strain expressing H2g7." []	206396	\N	\N	EFO	1	EFO	NOD mouse	B10.NOD_H2g7
EFO:0002740	\N	\N	"Nonobese diabetic (NOD) mouse strain which is homozygous for the scid mutation." []	EFO:0002740	"Nonobese diabetic (NOD) mouse strain which is homozygous for the scid mutation." []	65404	\N	\N	EFO	0	EFO	NOD.scid	NOD.scid
EFO:0002547	EFO:0002740	\N	"" []	EFO:0002740	"Nonobese diabetic (NOD) mouse strain which is homozygous for the scid mutation." []	206397	\N	\N	EFO	1	EFO	NOD mouse	NOD.scid
EFO:0002741	\N	\N	"C57Bl/10 derived non-diabetic mouse strain expressing H2g7 and Idd3" []	EFO:0002741	"C57Bl/10 derived non-diabetic mouse strain expressing H2g7 and Idd3" []	65405	\N	\N	EFO	0	EFO	B10.NOD_H2g7_Idd3	B10.NOD_H2g7_Idd3
EFO:0002547	EFO:0002741	\N	"" []	EFO:0002741	"C57Bl/10 derived non-diabetic mouse strain expressing H2g7 and Idd3" []	206398	\N	\N	EFO	1	EFO	NOD mouse	B10.NOD_H2g7_Idd3
EFO:0002742	\N	\N	"C57BL/6 congenically expressing H2g7 mouse strain." []	EFO:0002742	"C57BL/6 congenically expressing H2g7 mouse strain." []	65406	\N	\N	EFO	0	EFO	B6.H2_g7	B6.H2_g7
EFO:0000606	EFO:0002742	\N	"C57BL/6J is a mouse strain as described in Jackson Laboratory http://phenome.jax.org/db/q?rtn=strains/details&strainid=7" []	EFO:0002742	"C57BL/6 congenically expressing H2g7 mouse strain." []	206399	\N	\N	EFO	1	EFO	C57BL/6J	B6.H2_g7
EFO:0005181	EFO:0000606	\N	"An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology." []	EFO:0002742	"C57BL/6 congenically expressing H2g7 mouse strain." []	559511	\N	\N	EFO	2	EFO	C57BL	B6.H2_g7
EFO:0002743	\N	\N	"Severe Combined Immunodeficiency (SCID) mutant in C57BL6 genetic background mouse strain." []	EFO:0002743	"Severe Combined Immunodeficiency (SCID) mutant in C57BL6 genetic background mouse strain." []	65407	\N	\N	EFO	0	EFO	C57BL/6-scid	C57BL/6-scid
EFO:0000606	EFO:0002743	\N	"C57BL/6J is a mouse strain as described in Jackson Laboratory http://phenome.jax.org/db/q?rtn=strains/details&strainid=7" []	EFO:0002743	"Severe Combined Immunodeficiency (SCID) mutant in C57BL6 genetic background mouse strain." []	206400	\N	\N	EFO	1	EFO	C57BL/6J	C57BL/6-scid
EFO:0005181	EFO:0000606	\N	"An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology." []	EFO:0002743	"Severe Combined Immunodeficiency (SCID) mutant in C57BL6 genetic background mouse strain." []	559512	\N	\N	EFO	2	EFO	C57BL	C57BL/6-scid
EFO:0002744	\N	\N	"C57Bl/10 derived nonobese diabetic (NOD) mouse strain." []	EFO:0002744	"C57Bl/10 derived nonobese diabetic (NOD) mouse strain." []	65408	\N	\N	EFO	0	EFO	NOD.B10	NOD.B10
EFO:0002547	EFO:0002744	\N	"" []	EFO:0002744	"C57Bl/10 derived nonobese diabetic (NOD) mouse strain." []	206401	\N	\N	EFO	1	EFO	NOD mouse	NOD.B10
EFO:0002745	\N	\N	"C57Bl/6 derived nonobese diabetic (NOD) mouse strain." []	EFO:0002745	"C57Bl/6 derived nonobese diabetic (NOD) mouse strain." []	65409	\N	\N	EFO	0	EFO	NOD.B6	NOD.B6
EFO:0002547	EFO:0002745	\N	"" []	EFO:0002745	"C57Bl/6 derived nonobese diabetic (NOD) mouse strain." []	206402	\N	\N	EFO	1	EFO	NOD mouse	NOD.B6
EFO:0002746	\N	\N	"IR(lox/lox) transfection mouse strain maintained on a mixed (C57BL/6 x 129/Sv) genetic background." []	EFO:0002746	"IR(lox/lox) transfection mouse strain maintained on a mixed (C57BL/6 x 129/Sv) genetic background." []	65410	\N	\N	EFO	0	EFO	IR (lox/lox)	IR (lox/lox)
EFO:0000601	EFO:0002746	\N	"129xC57BL/6 is a substrain of the mouse strain 129 as described in article PUBMED ID 15015938" []	EFO:0002746	"IR(lox/lox) transfection mouse strain maintained on a mixed (C57BL/6 x 129/Sv) genetic background." []	206403	\N	\N	EFO	1	EFO	129xC57BL/6	IR (lox/lox)
EFO:0000597	EFO:0000601	\N	"129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml" []	EFO:0002746	"IR(lox/lox) transfection mouse strain maintained on a mixed (C57BL/6 x 129/Sv) genetic background." []	559513	\N	\N	EFO	2	EFO	129 mouse strain	IR (lox/lox)
EFO:0002747	\N	\N	"Mouse strain with deficiency of the leptin gene (ObOb)." []	EFO:0002747	"Mouse strain with deficiency of the leptin gene (ObOb)." []	65411	\N	\N	EFO	0	EFO	ObOb	ObOb
NCBITaxon:10090	\N	\N	"" []	EFO:0002747	"Mouse strain with deficiency of the leptin gene (ObOb)." []	194578	\N	\N	EFO	0	EFO	Mus musculus	ObOb
EFO:0002749	\N	\N	"Athero-protected regions of aorta." []	EFO:0002749	"Athero-protected regions of aorta." []	65412	\N	\N	EFO	0	EFO	undisturbed flow regions	undisturbed flow regions
UBERON:0000947	\N	\N	"Artery carrying blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation" [Wikipedia:Aorta]	EFO:0002749	"Athero-protected regions of aorta." []	194579	\N	efo_slim,grouping_class,uberon_slim	EFO	0	EFO	aorta	undisturbed flow regions
EFO:0002750	\N	\N	"Athero-susceptible regions of aorta." []	EFO:0002750	"Athero-susceptible regions of aorta." []	65413	\N	\N	EFO	0	EFO	disturbed flow regions	disturbed flow regions
UBERON:0000947	\N	\N	"Artery carrying blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation" [Wikipedia:Aorta]	EFO:0002750	"Athero-susceptible regions of aorta." []	194580	\N	efo_slim,grouping_class,uberon_slim	EFO	0	EFO	aorta	disturbed flow regions
EFO:0002751	\N	\N	"For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health." []	EFO:0002751	"For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health." []	65414	\N	\N	EFO	0	EFO	benign	benign
EFO:0000410	EFO:0002751	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0002751	"For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health." []	206404	\N	\N	EFO	1	EFO	disease staging	benign
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002751	"For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health." []	559514	\N	\N	EFO	2	EFO	disposition	benign
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002751	"For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health." []	1141490	\N	\N	EFO	3	EFO	material property	benign
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002751	"For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health." []	2024433	\N	\N	EFO	4	EFO	experimental factor	benign
EFO:0002752	\N	\N	"" []	EFO:0002752	"" []	65415	\N	\N	EFO	0	EFO	aggressive	aggressive
EFO:0000410	EFO:0002752	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0002752	"" []	206405	\N	\N	EFO	1	EFO	disease staging	aggressive
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002752	"" []	559515	\N	\N	EFO	2	EFO	disposition	aggressive
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002752	"" []	1141491	\N	\N	EFO	3	EFO	material property	aggressive
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002752	"" []	2024434	\N	\N	EFO	4	EFO	experimental factor	aggressive
EFO:0002755	\N	\N	"The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health." []	EFO:0002755	"The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health." []	65416	\N	\N	EFO	0	EFO	diet	diet
EFO:0000355	EFO:0002755	\N	"A clinical treatment is a treatment of some organism designed to have some clinical effect, for example the treatment of a disease E.g. radiotherapy" []	EFO:0002755	"The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health." []	206406	\N	\N	EFO	1	EFO	clinical treatment protocol	diet
EFO:0003969	EFO:0000355	\N	"A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome." []	EFO:0002755	"The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health." []	559516	\N	\N	EFO	2	EFO	treatment protocol	diet
OBI:0000272	EFO:0003969	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0002755	"The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health." []	1141492	\N	\N	EFO	3	EFO	protocol	diet
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002755	"The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health." []	2024435	\N	\N	EFO	4	EFO	information entity	diet
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002755	"The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health." []	3177541	\N	\N	EFO	5	EFO	experimental factor	diet
EFO:0002756	\N	\N	"Abstaining from food." []	EFO:0002756	"Abstaining from food." []	65417	\N	\N	EFO	0	EFO	fasting	fasting
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0002756	"Abstaining from food." []	194581	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	fasting
EFO:0002757	\N	\N	"" []	EFO:0002757	"" []	65418	\N	\N	EFO	0	EFO	high fat diet	high fat diet
EFO:0002755	EFO:0002757	\N	"The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health." []	EFO:0002757	"" []	206407	\N	\N	EFO	1	EFO	diet	high fat diet
EFO:0000355	EFO:0002755	\N	"A clinical treatment is a treatment of some organism designed to have some clinical effect, for example the treatment of a disease E.g. radiotherapy" []	EFO:0002757	"" []	559517	\N	\N	EFO	2	EFO	clinical treatment protocol	high fat diet
EFO:0003969	EFO:0000355	\N	"A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome." []	EFO:0002757	"" []	1141493	\N	\N	EFO	3	EFO	treatment protocol	high fat diet
OBI:0000272	EFO:0003969	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0002757	"" []	2024436	\N	\N	EFO	4	EFO	protocol	high fat diet
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002757	"" []	3177542	\N	\N	EFO	5	EFO	information entity	high fat diet
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002757	"" []	4387799	\N	\N	EFO	6	EFO	experimental factor	high fat diet
EFO:0002758	\N	\N	"" []	EFO:0002758	"" []	65419	\N	\N	EFO	0	EFO	low fat diet	low fat diet
EFO:0002755	EFO:0002758	\N	"The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health." []	EFO:0002758	"" []	206408	\N	\N	EFO	1	EFO	diet	low fat diet
EFO:0000355	EFO:0002755	\N	"A clinical treatment is a treatment of some organism designed to have some clinical effect, for example the treatment of a disease E.g. radiotherapy" []	EFO:0002758	"" []	559518	\N	\N	EFO	2	EFO	clinical treatment protocol	low fat diet
EFO:0003969	EFO:0000355	\N	"A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome." []	EFO:0002758	"" []	1141494	\N	\N	EFO	3	EFO	treatment protocol	low fat diet
OBI:0000272	EFO:0003969	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0002758	"" []	2024437	\N	\N	EFO	4	EFO	protocol	low fat diet
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002758	"" []	3177543	\N	\N	EFO	5	EFO	information entity	low fat diet
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002758	"" []	4387800	\N	\N	EFO	6	EFO	experimental factor	low fat diet
EFO:0002759	\N	\N	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	65420	\N	\N	EFO	0	EFO	methylation profiling by array	methylation profiling by array
EFO:0000751	EFO:0002759	\N	"An assay in which the methylation state is determined and is compared between samples." []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	206409	\N	\N	EFO	1	EFO	methylation profiling	methylation profiling by array
EFO:0001456	EFO:0002759	\N	"An assay with input DNA" []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	206410	\N	\N	EFO	1	EFO	DNA assay	methylation profiling by array
EFO:0002696	EFO:0002759	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	206411	\N	\N	EFO	1	EFO	assay by array	methylation profiling by array
EFO:0004108	EFO:0002759	\N	"Experiment type permitted in Atlas" []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	206412	\N	\N	EFO	1	EFO	Atlas experiment type	methylation profiling by array
EFO:0004120	EFO:0002759	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	206413	\N	\N	EFO	1	EFO	ArrayExpress experiment type	methylation profiling by array
EFO:0002694	EFO:0000751	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	559519	\N	\N	EFO	2	EFO	experimental process	methylation profiling by array
EFO:0002772	EFO:0001456	\N	"" []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	559520	\N	\N	EFO	2	EFO	assay by molecule	methylation profiling by array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	559521	\N	\N	EFO	2	EFO	assay by instrument	methylation profiling by array
EFO:0002694	EFO:0004108	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	559522	\N	\N	EFO	2	EFO	experimental process	methylation profiling by array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	559523	\N	\N	EFO	2	EFO	experimental process	methylation profiling by array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	3177545	\N	\N	EFO	5	EFO	planned process	methylation profiling by array
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	1141496	\N	\N	EFO	3	EFO	assay	methylation profiling by array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	1141497	\N	\N	EFO	3	EFO	assay	methylation profiling by array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	4066689	\N	\N	EFO	6	EFO	process	methylation profiling by array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	2024439	\N	\N	EFO	4	EFO	experimental process	methylation profiling by array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002759	"An assay in which the methylation state of DNA is determined and is compared between samples using array technology" []	5059322	\N	\N	EFO	7	EFO	experimental factor	methylation profiling by array
EFO:0002760	\N	\N	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	65421	\N	\N	EFO	0	EFO	ChIP-chip by array	ChIP-chip by array
EFO:0000748	EFO:0002760	\N	"An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology." []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	206414	\N	\N	EFO	1	EFO	ChIP-Chip	ChIP-chip by array
EFO:0001456	EFO:0002760	\N	"An assay with input DNA" []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	206415	\N	\N	EFO	1	EFO	DNA assay	ChIP-chip by array
EFO:0002696	EFO:0002760	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	206416	\N	\N	EFO	1	EFO	assay by array	ChIP-chip by array
EFO:0004108	EFO:0002760	\N	"Experiment type permitted in Atlas" []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	206417	\N	\N	EFO	1	EFO	Atlas experiment type	ChIP-chip by array
EFO:0004120	EFO:0002760	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	206418	\N	\N	EFO	1	EFO	ArrayExpress experiment type	ChIP-chip by array
EFO:0002694	EFO:0000748	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	559524	\N	\N	EFO	2	EFO	experimental process	ChIP-chip by array
EFO:0002772	EFO:0001456	\N	"" []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	559525	\N	\N	EFO	2	EFO	assay by molecule	ChIP-chip by array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	559526	\N	\N	EFO	2	EFO	assay by instrument	ChIP-chip by array
EFO:0002694	EFO:0004108	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	559527	\N	\N	EFO	2	EFO	experimental process	ChIP-chip by array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	559528	\N	\N	EFO	2	EFO	experimental process	ChIP-chip by array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	3177547	\N	\N	EFO	5	EFO	planned process	ChIP-chip by array
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	1141499	\N	\N	EFO	3	EFO	assay	ChIP-chip by array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	1141500	\N	\N	EFO	3	EFO	assay	ChIP-chip by array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	4066690	\N	\N	EFO	6	EFO	process	ChIP-chip by array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	2024441	\N	\N	EFO	4	EFO	experimental process	ChIP-chip by array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002760	"An assay  where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology" []	5059323	\N	\N	EFO	7	EFO	experimental factor	ChIP-chip by array
EFO:0002761	\N	\N	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	65422	\N	\N	EFO	0	EFO	methylation profiling by high throughput sequencing	methylation profiling by high throughput sequencing
EFO:0000751	EFO:0002761	\N	"An assay in which the methylation state is determined and is compared between samples." []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	206419	\N	\N	EFO	1	EFO	methylation profiling	methylation profiling by high throughput sequencing
EFO:0001456	EFO:0002761	\N	"An assay with input DNA" []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	206420	\N	\N	EFO	1	EFO	DNA assay	methylation profiling by high throughput sequencing
EFO:0002697	EFO:0002761	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	206421	\N	\N	EFO	1	EFO	assay by high throughput sequencer	methylation profiling by high throughput sequencing
EFO:0004120	EFO:0002761	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	206422	\N	\N	EFO	1	EFO	ArrayExpress experiment type	methylation profiling by high throughput sequencing
EFO:0002694	EFO:0000751	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	559529	\N	\N	EFO	2	EFO	experimental process	methylation profiling by high throughput sequencing
EFO:0002772	EFO:0001456	\N	"" []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	559530	\N	\N	EFO	2	EFO	assay by molecule	methylation profiling by high throughput sequencing
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	559531	\N	\N	EFO	2	EFO	assay by sequencer	methylation profiling by high throughput sequencing
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	559532	\N	\N	EFO	2	EFO	experimental process	methylation profiling by high throughput sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	4132588	\N	\N	EFO	6	EFO	planned process	methylation profiling by high throughput sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	1141502	\N	\N	EFO	3	EFO	assay	methylation profiling by high throughput sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	1141503	\N	\N	EFO	3	EFO	assay by instrument	methylation profiling by high throughput sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	5028329	\N	\N	EFO	7	EFO	process	methylation profiling by high throughput sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	3177550	\N	\N	EFO	5	EFO	experimental process	methylation profiling by high throughput sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	2024444	\N	\N	EFO	4	EFO	assay	methylation profiling by high throughput sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002761	"An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology" []	5817356	\N	\N	EFO	8	EFO	experimental factor	methylation profiling by high throughput sequencing
EFO:0002762	\N	\N	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	65423	\N	\N	EFO	0	EFO	ChIP-chip by tiling array	ChIP-chip by tiling array
EFO:0000748	EFO:0002762	\N	"An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology." []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	206423	\N	\N	EFO	1	EFO	ChIP-Chip	ChIP-chip by tiling array
EFO:0001456	EFO:0002762	\N	"An assay with input DNA" []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	206424	\N	\N	EFO	1	EFO	DNA assay	ChIP-chip by tiling array
EFO:0002696	EFO:0002762	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	206425	\N	\N	EFO	1	EFO	assay by array	ChIP-chip by tiling array
EFO:0004120	EFO:0002762	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	206426	\N	\N	EFO	1	EFO	ArrayExpress experiment type	ChIP-chip by tiling array
EFO:0002694	EFO:0000748	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	559533	\N	\N	EFO	2	EFO	experimental process	ChIP-chip by tiling array
EFO:0002772	EFO:0001456	\N	"" []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	559534	\N	\N	EFO	2	EFO	assay by molecule	ChIP-chip by tiling array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	559535	\N	\N	EFO	2	EFO	assay by instrument	ChIP-chip by tiling array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	559536	\N	\N	EFO	2	EFO	experimental process	ChIP-chip by tiling array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	3177552	\N	\N	EFO	5	EFO	planned process	ChIP-chip by tiling array
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	1141505	\N	\N	EFO	3	EFO	assay	ChIP-chip by tiling array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	1141506	\N	\N	EFO	3	EFO	assay	ChIP-chip by tiling array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	4066692	\N	\N	EFO	6	EFO	process	ChIP-chip by tiling array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	2024446	\N	\N	EFO	4	EFO	experimental process	ChIP-chip by tiling array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002762	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling  microarray technology" []	5059325	\N	\N	EFO	7	EFO	experimental factor	ChIP-chip by tiling array
EFO:0002764	\N	\N	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	65424	\N	\N	EFO	0	EFO	ChIP-chip by SNP array	ChIP-chip by SNP array
EFO:0000748	EFO:0002764	\N	"An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology." []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	206427	\N	\N	EFO	1	EFO	ChIP-Chip	ChIP-chip by SNP array
EFO:0001456	EFO:0002764	\N	"An assay with input DNA" []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	206428	\N	\N	EFO	1	EFO	DNA assay	ChIP-chip by SNP array
EFO:0002696	EFO:0002764	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	206429	\N	\N	EFO	1	EFO	assay by array	ChIP-chip by SNP array
EFO:0004120	EFO:0002764	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	206430	\N	\N	EFO	1	EFO	ArrayExpress experiment type	ChIP-chip by SNP array
EFO:0002694	EFO:0000748	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	559537	\N	\N	EFO	2	EFO	experimental process	ChIP-chip by SNP array
EFO:0002772	EFO:0001456	\N	"" []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	559538	\N	\N	EFO	2	EFO	assay by molecule	ChIP-chip by SNP array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	559539	\N	\N	EFO	2	EFO	assay by instrument	ChIP-chip by SNP array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	559540	\N	\N	EFO	2	EFO	experimental process	ChIP-chip by SNP array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	3177554	\N	\N	EFO	5	EFO	planned process	ChIP-chip by SNP array
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	1141508	\N	\N	EFO	3	EFO	assay	ChIP-chip by SNP array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	1141509	\N	\N	EFO	3	EFO	assay	ChIP-chip by SNP array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	4066693	\N	\N	EFO	6	EFO	process	ChIP-chip by SNP array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	2024448	\N	\N	EFO	4	EFO	experimental process	ChIP-chip by SNP array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002764	"An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology" []	5059326	\N	\N	EFO	7	EFO	experimental factor	ChIP-chip by SNP array
EFO:0002765	\N	\N	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	65425	\N	\N	EFO	0	EFO	proteomic profiling by array	proteomic profiling by array
EFO:0000746	EFO:0002765	\N	"An assay where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling" []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	206431	\N	\N	EFO	1	EFO	proteomic profiling	proteomic profiling by array
EFO:0001458	EFO:0002765	\N	"An assay with input protein" []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	206432	\N	\N	EFO	1	EFO	protein assay	proteomic profiling by array
EFO:0002696	EFO:0002765	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	206433	\N	\N	EFO	1	EFO	assay by array	proteomic profiling by array
EFO:0004120	EFO:0002765	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	206434	\N	\N	EFO	1	EFO	ArrayExpress experiment type	proteomic profiling by array
EFO:0002694	EFO:0000746	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	559541	\N	\N	EFO	2	EFO	experimental process	proteomic profiling by array
EFO:0002772	EFO:0001458	\N	"" []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	559542	\N	\N	EFO	2	EFO	assay by molecule	proteomic profiling by array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	559543	\N	\N	EFO	2	EFO	assay by instrument	proteomic profiling by array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	559544	\N	\N	EFO	2	EFO	experimental process	proteomic profiling by array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	3177556	\N	\N	EFO	5	EFO	planned process	proteomic profiling by array
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	1141511	\N	\N	EFO	3	EFO	assay	proteomic profiling by array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	1141512	\N	\N	EFO	3	EFO	assay	proteomic profiling by array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	4066694	\N	\N	EFO	6	EFO	process	proteomic profiling by array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	2024450	\N	\N	EFO	4	EFO	experimental process	proteomic profiling by array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002765	"An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology" []	5059327	\N	\N	EFO	7	EFO	experimental factor	proteomic profiling by array
EFO:0002766	\N	\N	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	65426	\N	\N	EFO	0	EFO	proteomic profiling by mass spectrometer	proteomic profiling by mass spectrometer
EFO:0000746	EFO:0002766	\N	"An assay where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling" []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	206435	\N	\N	EFO	1	EFO	proteomic profiling	proteomic profiling by mass spectrometer
EFO:0001458	EFO:0002766	\N	"An assay with input protein" []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	206436	\N	\N	EFO	1	EFO	protein assay	proteomic profiling by mass spectrometer
EFO:0002774	EFO:0002766	\N	"" []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	206437	\N	\N	EFO	1	EFO	assay by mass spectrometry	proteomic profiling by mass spectrometer
EFO:0004120	EFO:0002766	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	206438	\N	\N	EFO	1	EFO	ArrayExpress experiment type	proteomic profiling by mass spectrometer
EFO:0002694	EFO:0000746	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	559545	\N	\N	EFO	2	EFO	experimental process	proteomic profiling by mass spectrometer
EFO:0002772	EFO:0001458	\N	"" []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	559546	\N	\N	EFO	2	EFO	assay by molecule	proteomic profiling by mass spectrometer
EFO:0002773	EFO:0002774	\N	"" []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	559547	\N	\N	EFO	2	EFO	assay by instrument	proteomic profiling by mass spectrometer
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	559548	\N	\N	EFO	2	EFO	experimental process	proteomic profiling by mass spectrometer
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	3177558	\N	\N	EFO	5	EFO	planned process	proteomic profiling by mass spectrometer
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	1141514	\N	\N	EFO	3	EFO	assay	proteomic profiling by mass spectrometer
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	1141515	\N	\N	EFO	3	EFO	assay	proteomic profiling by mass spectrometer
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	4066695	\N	\N	EFO	6	EFO	process	proteomic profiling by mass spectrometer
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	2024452	\N	\N	EFO	4	EFO	experimental process	proteomic profiling by mass spectrometer
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002766	"An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry" []	5059328	\N	\N	EFO	7	EFO	experimental factor	proteomic profiling by mass spectrometer
EFO:0002767	\N	\N	"An assay in which an array is used detect polymorphisms in DNA samples" []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	65427	\N	\N	EFO	0	EFO	genotyping by array	genotyping by array
EFO:0000750	EFO:0002767	\N	"An assay in which variation in a part of or the whole genome is analysed" []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	206439	\N	\N	EFO	1	EFO	genotyping	genotyping by array
EFO:0001456	EFO:0002767	\N	"An assay with input DNA" []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	206440	\N	\N	EFO	1	EFO	DNA assay	genotyping by array
EFO:0002696	EFO:0002767	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	206441	\N	\N	EFO	1	EFO	assay by array	genotyping by array
EFO:0004120	EFO:0002767	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	206442	\N	\N	EFO	1	EFO	ArrayExpress experiment type	genotyping by array
EFO:0002694	EFO:0000750	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	559549	\N	\N	EFO	2	EFO	experimental process	genotyping by array
EFO:0002772	EFO:0001456	\N	"" []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	559550	\N	\N	EFO	2	EFO	assay by molecule	genotyping by array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	559551	\N	\N	EFO	2	EFO	assay by instrument	genotyping by array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	559552	\N	\N	EFO	2	EFO	experimental process	genotyping by array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	3177560	\N	\N	EFO	5	EFO	planned process	genotyping by array
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	1141517	\N	\N	EFO	3	EFO	assay	genotyping by array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	1141518	\N	\N	EFO	3	EFO	assay	genotyping by array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	4066696	\N	\N	EFO	6	EFO	process	genotyping by array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	2024454	\N	\N	EFO	4	EFO	experimental process	genotyping by array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002767	"An assay in which an array is used detect polymorphisms in DNA samples" []	5059329	\N	\N	EFO	7	EFO	experimental factor	genotyping by array
EFO:0002768	\N	\N	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	65428	\N	\N	EFO	0	EFO	transcription profiling by array	transcription profiling by array
EFO:0001032	EFO:0002768	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	206443	\N	\N	EFO	1	EFO	transcription profiling	transcription profiling by array
EFO:0001457	EFO:0002768	\N	"An assay with input RNA" []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	206444	\N	\N	EFO	1	EFO	RNA assay	transcription profiling by array
EFO:0002696	EFO:0002768	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	206445	\N	\N	EFO	1	EFO	assay by array	transcription profiling by array
EFO:0004108	EFO:0002768	\N	"Experiment type permitted in Atlas" []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	206446	\N	\N	EFO	1	EFO	Atlas experiment type	transcription profiling by array
EFO:0004120	EFO:0002768	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	206447	\N	\N	EFO	1	EFO	ArrayExpress experiment type	transcription profiling by array
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	559553	\N	\N	EFO	2	EFO	experimental process	transcription profiling by array
EFO:0002772	EFO:0001457	\N	"" []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	559554	\N	\N	EFO	2	EFO	assay by molecule	transcription profiling by array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	559555	\N	\N	EFO	2	EFO	assay by instrument	transcription profiling by array
EFO:0002694	EFO:0004108	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	559556	\N	\N	EFO	2	EFO	experimental process	transcription profiling by array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	559557	\N	\N	EFO	2	EFO	experimental process	transcription profiling by array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	3177562	\N	\N	EFO	5	EFO	planned process	transcription profiling by array
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	1141520	\N	\N	EFO	3	EFO	assay	transcription profiling by array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	1141521	\N	\N	EFO	3	EFO	assay	transcription profiling by array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	4066697	\N	\N	EFO	6	EFO	process	transcription profiling by array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	2024456	\N	\N	EFO	4	EFO	experimental process	transcription profiling by array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002768	"An assay in which  the transcriptome of a biological sample is analysed using array technology." []	5059330	\N	\N	EFO	7	EFO	experimental factor	transcription profiling by array
EFO:0002769	\N	\N	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	65429	\N	\N	EFO	0	EFO	transcription profiling by tiling array	transcription profiling by tiling array
EFO:0001032	EFO:0002769	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	206448	\N	\N	EFO	1	EFO	transcription profiling	transcription profiling by tiling array
EFO:0001457	EFO:0002769	\N	"An assay with input RNA" []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	206449	\N	\N	EFO	1	EFO	RNA assay	transcription profiling by tiling array
EFO:0002696	EFO:0002769	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	206450	\N	\N	EFO	1	EFO	assay by array	transcription profiling by tiling array
EFO:0004120	EFO:0002769	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	206451	\N	\N	EFO	1	EFO	ArrayExpress experiment type	transcription profiling by tiling array
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	559558	\N	\N	EFO	2	EFO	experimental process	transcription profiling by tiling array
EFO:0002772	EFO:0001457	\N	"" []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	559559	\N	\N	EFO	2	EFO	assay by molecule	transcription profiling by tiling array
EFO:0002773	EFO:0002696	\N	"" []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	559560	\N	\N	EFO	2	EFO	assay by instrument	transcription profiling by tiling array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	559561	\N	\N	EFO	2	EFO	experimental process	transcription profiling by tiling array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	3177564	\N	\N	EFO	5	EFO	planned process	transcription profiling by tiling array
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	1141523	\N	\N	EFO	3	EFO	assay	transcription profiling by tiling array
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	1141524	\N	\N	EFO	3	EFO	assay	transcription profiling by tiling array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	4066698	\N	\N	EFO	6	EFO	process	transcription profiling by tiling array
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	2024458	\N	\N	EFO	4	EFO	experimental process	transcription profiling by tiling array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002769	"An assay in which the transcriptome of a biological sample is analysed using a tiling path array." []	5059331	\N	\N	EFO	7	EFO	experimental factor	transcription profiling by tiling array
EFO:0002770	\N	\N	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	65430	\N	\N	EFO	0	EFO	transcription profiling by high throughput sequencing	transcription profiling by high throughput sequencing
EFO:0001032	EFO:0002770	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	206452	\N	\N	EFO	1	EFO	transcription profiling	transcription profiling by high throughput sequencing
EFO:0001457	EFO:0002770	\N	"An assay with input RNA" []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	206453	\N	\N	EFO	1	EFO	RNA assay	transcription profiling by high throughput sequencing
EFO:0002697	EFO:0002770	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	206454	\N	\N	EFO	1	EFO	assay by high throughput sequencer	transcription profiling by high throughput sequencing
EFO:0004120	EFO:0002770	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	206455	\N	\N	EFO	1	EFO	ArrayExpress experiment type	transcription profiling by high throughput sequencing
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	559562	\N	\N	EFO	2	EFO	experimental process	transcription profiling by high throughput sequencing
EFO:0002772	EFO:0001457	\N	"" []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	559563	\N	\N	EFO	2	EFO	assay by molecule	transcription profiling by high throughput sequencing
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	559564	\N	\N	EFO	2	EFO	assay by sequencer	transcription profiling by high throughput sequencing
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	559565	\N	\N	EFO	2	EFO	experimental process	transcription profiling by high throughput sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	4132589	\N	\N	EFO	6	EFO	planned process	transcription profiling by high throughput sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	1141526	\N	\N	EFO	3	EFO	assay	transcription profiling by high throughput sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	1141527	\N	\N	EFO	3	EFO	assay by instrument	transcription profiling by high throughput sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	5028330	\N	\N	EFO	7	EFO	process	transcription profiling by high throughput sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	3177567	\N	\N	EFO	5	EFO	experimental process	transcription profiling by high throughput sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	2024461	\N	\N	EFO	4	EFO	assay	transcription profiling by high throughput sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002770	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	5817357	\N	\N	EFO	8	EFO	experimental factor	transcription profiling by high throughput sequencing
EFO:0002771	\N	\N	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	65431	\N	\N	EFO	0	EFO	genotyping by high throughput sequencing	genotyping by high throughput sequencing
EFO:0000750	EFO:0002771	\N	"An assay in which variation in a part of or the whole genome is analysed" []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	206456	\N	\N	EFO	1	EFO	genotyping	genotyping by high throughput sequencing
EFO:0001456	EFO:0002771	\N	"An assay with input DNA" []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	206457	\N	\N	EFO	1	EFO	DNA assay	genotyping by high throughput sequencing
EFO:0002697	EFO:0002771	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	206458	\N	\N	EFO	1	EFO	assay by high throughput sequencer	genotyping by high throughput sequencing
EFO:0004120	EFO:0002771	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	206459	\N	\N	EFO	1	EFO	ArrayExpress experiment type	genotyping by high throughput sequencing
EFO:0002694	EFO:0000750	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	559566	\N	\N	EFO	2	EFO	experimental process	genotyping by high throughput sequencing
EFO:0002772	EFO:0001456	\N	"" []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	559567	\N	\N	EFO	2	EFO	assay by molecule	genotyping by high throughput sequencing
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	559568	\N	\N	EFO	2	EFO	assay by sequencer	genotyping by high throughput sequencing
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	559569	\N	\N	EFO	2	EFO	experimental process	genotyping by high throughput sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	4132590	\N	\N	EFO	6	EFO	planned process	genotyping by high throughput sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	1141529	\N	\N	EFO	3	EFO	assay	genotyping by high throughput sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	1141530	\N	\N	EFO	3	EFO	assay by instrument	genotyping by high throughput sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	5028331	\N	\N	EFO	7	EFO	process	genotyping by high throughput sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	3177570	\N	\N	EFO	5	EFO	experimental process	genotyping by high throughput sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	2024464	\N	\N	EFO	4	EFO	assay	genotyping by high throughput sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002771	"An assay in which high throughput sequencing is used to determine the genotype of a DNA sample" []	5817358	\N	\N	EFO	8	EFO	experimental factor	genotyping by high throughput sequencing
EFO:0002772	\N	\N	"" []	EFO:0002772	"" []	65432	\N	\N	EFO	0	EFO	assay by molecule	assay by molecule
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002772	"" []	206460	\N	\N	EFO	1	EFO	assay	assay by molecule
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002772	"" []	559570	\N	\N	EFO	2	EFO	experimental process	assay by molecule
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002772	"" []	1141531	\N	\N	EFO	3	EFO	planned process	assay by molecule
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002772	"" []	2024465	\N	\N	EFO	4	EFO	process	assay by molecule
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002772	"" []	3177571	\N	\N	EFO	5	EFO	experimental factor	assay by molecule
EFO:0002773	\N	\N	"" []	EFO:0002773	"" []	65433	\N	\N	EFO	0	EFO	assay by instrument	assay by instrument
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002773	"" []	206461	\N	\N	EFO	1	EFO	assay	assay by instrument
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002773	"" []	559571	\N	\N	EFO	2	EFO	experimental process	assay by instrument
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002773	"" []	1141532	\N	\N	EFO	3	EFO	planned process	assay by instrument
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002773	"" []	2024466	\N	\N	EFO	4	EFO	process	assay by instrument
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002773	"" []	3177572	\N	\N	EFO	5	EFO	experimental factor	assay by instrument
EFO:0002774	\N	\N	"" []	EFO:0002774	"" []	65434	\N	\N	EFO	0	EFO	assay by mass spectrometry	assay by mass spectrometry
EFO:0002773	EFO:0002774	\N	"" []	EFO:0002774	"" []	206462	\N	\N	EFO	1	EFO	assay by instrument	assay by mass spectrometry
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002774	"" []	559572	\N	\N	EFO	2	EFO	assay	assay by mass spectrometry
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002774	"" []	1141533	\N	\N	EFO	3	EFO	experimental process	assay by mass spectrometry
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002774	"" []	2024467	\N	\N	EFO	4	EFO	planned process	assay by mass spectrometry
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002774	"" []	3177573	\N	\N	EFO	5	EFO	process	assay by mass spectrometry
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002774	"" []	4387801	\N	\N	EFO	6	EFO	experimental factor	assay by mass spectrometry
EFO:0002775	\N	\N	"" []	EFO:0002775	"" []	65435	\N	\N	EFO	0	EFO	aorta smooth muscle	aorta smooth muscle
EFO:0000889	EFO:0002775	\N	"Visceral muscle of the adult." []	EFO:0002775	"" []	206463	\N	\N	EFO	1	EFO	smooth muscle	aorta smooth muscle
EFO:0002776	\N	\N	"H0287 is a cell line derived from normal lymphoblastoid cells" []	EFO:0002776	"H0287 is a cell line derived from normal lymphoblastoid cells" []	65436	\N	\N	EFO	0	EFO	H0287	H0287
EFO:0002922	EFO:0002776	\N	"" []	EFO:0002776	"H0287 is a cell line derived from normal lymphoblastoid cells" []	206464	\N	\N	EFO	1	EFO	normal cell line	H0287
EFO:0005292	EFO:0002776	\N	"" []	EFO:0002776	"H0287 is a cell line derived from normal lymphoblastoid cells" []	206465	\N	\N	EFO	1	EFO	lymphoblastoid cell line	H0287
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002776	"H0287 is a cell line derived from normal lymphoblastoid cells" []	559573	\N	\N	EFO	2	EFO	cell line	H0287
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002776	"H0287 is a cell line derived from normal lymphoblastoid cells" []	559574	\N	\N	EFO	2	EFO	cell line	H0287
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002776	"H0287 is a cell line derived from normal lymphoblastoid cells" []	1141534	\N	\N	EFO	3	EFO	material entity	H0287
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002776	"H0287 is a cell line derived from normal lymphoblastoid cells" []	2024468	\N	\N	EFO	4	EFO	experimental factor	H0287
EFO:0002777	\N	\N	"NHA is a cell line derived from normal (healthy) human astrocyte cells." []	EFO:0002777	"NHA is a cell line derived from normal (healthy) human astrocyte cells." []	65437	\N	\N	EFO	0	EFO	Normal Human Astrocytes	Normal Human Astrocytes
EFO:0002888	EFO:0002777	\N	"" []	EFO:0002777	"NHA is a cell line derived from normal (healthy) human astrocyte cells." []	206466	\N	\N	EFO	1	EFO	Homo sapiens cell line	Normal Human Astrocytes
EFO:0002922	EFO:0002777	\N	"" []	EFO:0002777	"NHA is a cell line derived from normal (healthy) human astrocyte cells." []	206467	\N	\N	EFO	1	EFO	normal cell line	Normal Human Astrocytes
EFO:0002926	EFO:0002777	\N	"" []	EFO:0002777	"NHA is a cell line derived from normal (healthy) human astrocyte cells." []	206468	\N	\N	EFO	1	EFO	ENCODE cell line	Normal Human Astrocytes
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002777	"NHA is a cell line derived from normal (healthy) human astrocyte cells." []	559575	\N	\N	EFO	2	EFO	cell line	Normal Human Astrocytes
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002777	"NHA is a cell line derived from normal (healthy) human astrocyte cells." []	559576	\N	\N	EFO	2	EFO	cell line	Normal Human Astrocytes
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002777	"NHA is a cell line derived from normal (healthy) human astrocyte cells." []	559577	\N	\N	EFO	2	EFO	cell line	Normal Human Astrocytes
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002777	"NHA is a cell line derived from normal (healthy) human astrocyte cells." []	1141535	\N	\N	EFO	3	EFO	material entity	Normal Human Astrocytes
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002777	"NHA is a cell line derived from normal (healthy) human astrocyte cells." []	2024469	\N	\N	EFO	4	EFO	experimental factor	Normal Human Astrocytes
EFO:0002778	\N	\N	"BG02ES is a cell line dervied from human embryonic stem cells." []	EFO:0002778	"BG02ES is a cell line dervied from human embryonic stem cells." []	65438	\N	\N	EFO	0	EFO	BG02ES	BG02ES
EFO:0002888	EFO:0002778	\N	"" []	EFO:0002778	"BG02ES is a cell line dervied from human embryonic stem cells." []	206469	\N	\N	EFO	1	EFO	Homo sapiens cell line	BG02ES
EFO:0002926	EFO:0002778	\N	"" []	EFO:0002778	"BG02ES is a cell line dervied from human embryonic stem cells." []	206470	\N	\N	EFO	1	EFO	ENCODE cell line	BG02ES
EFO:0003040	EFO:0002778	\N	"" []	EFO:0002778	"BG02ES is a cell line dervied from human embryonic stem cells." []	206471	\N	\N	EFO	1	EFO	embryonic cell line	BG02ES
EFO:0005738	EFO:0002778	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0002778	"BG02ES is a cell line dervied from human embryonic stem cells." []	206472	\N	\N	EFO	1	EFO	ESC derived cell line	BG02ES
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002778	"BG02ES is a cell line dervied from human embryonic stem cells." []	559578	\N	\N	EFO	2	EFO	cell line	BG02ES
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002778	"BG02ES is a cell line dervied from human embryonic stem cells." []	559579	\N	\N	EFO	2	EFO	cell line	BG02ES
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002778	"BG02ES is a cell line dervied from human embryonic stem cells." []	559580	\N	\N	EFO	2	EFO	cell line	BG02ES
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0002778	"BG02ES is a cell line dervied from human embryonic stem cells." []	559581	\N	\N	EFO	2	EFO	stem cell derived cell line	BG02ES
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002778	"BG02ES is a cell line dervied from human embryonic stem cells." []	2024471	\N	\N	EFO	4	EFO	material entity	BG02ES
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002778	"BG02ES is a cell line dervied from human embryonic stem cells." []	1141537	\N	\N	EFO	3	EFO	cell line	BG02ES
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002778	"BG02ES is a cell line dervied from human embryonic stem cells." []	2999464	\N	\N	EFO	5	EFO	experimental factor	BG02ES
EFO:0002779	\N	\N	"" []	EFO:0002779	"" []	65439	\N	\N	EFO	0	EFO	BJ	BJ
EFO:0002922	EFO:0002779	\N	"" []	EFO:0002779	"" []	206473	\N	\N	EFO	1	EFO	normal cell line	BJ
EFO:0002926	EFO:0002779	\N	"" []	EFO:0002779	"" []	206474	\N	\N	EFO	1	EFO	ENCODE cell line	BJ
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002779	"" []	559582	\N	\N	EFO	2	EFO	cell line	BJ
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002779	"" []	559583	\N	\N	EFO	2	EFO	cell line	BJ
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002779	"" []	1141538	\N	\N	EFO	3	EFO	material entity	BJ
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002779	"" []	2024472	\N	\N	EFO	4	EFO	experimental factor	BJ
EFO:0002781	\N	\N	"A chorion cell line is a cell line that is derived from the chorion." []	EFO:0002781	"A chorion cell line is a cell line that is derived from the chorion." []	65440	\N	\N	EFO	0	EFO	chorion cell line	chorion cell line
EFO:0000322	EFO:0002781	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002781	"A chorion cell line is a cell line that is derived from the chorion." []	206475	\N	\N	EFO	1	EFO	cell line	chorion cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002781	"A chorion cell line is a cell line that is derived from the chorion." []	559584	\N	\N	EFO	2	EFO	material entity	chorion cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002781	"A chorion cell line is a cell line that is derived from the chorion." []	1141539	\N	\N	EFO	3	EFO	experimental factor	chorion cell line
EFO:0002782	\N	\N	"Glioblastoma H54 is a cell line derived from" []	EFO:0002782	"Glioblastoma H54 is a cell line derived from" []	65441	\N	\N	EFO	0	EFO	glioblastoma H54	glioblastoma H54
EFO:0001639	EFO:0002782	\N	"" []	EFO:0002782	"Glioblastoma H54 is a cell line derived from" []	206476	\N	\N	EFO	1	EFO	cancer cell line	glioblastoma H54
EFO:0002888	EFO:0002782	\N	"" []	EFO:0002782	"Glioblastoma H54 is a cell line derived from" []	206477	\N	\N	EFO	1	EFO	Homo sapiens cell line	glioblastoma H54
EFO:0002926	EFO:0002782	\N	"" []	EFO:0002782	"Glioblastoma H54 is a cell line derived from" []	206478	\N	\N	EFO	1	EFO	ENCODE cell line	glioblastoma H54
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002782	"Glioblastoma H54 is a cell line derived from" []	559585	\N	\N	EFO	2	EFO	cell line	glioblastoma H54
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002782	"Glioblastoma H54 is a cell line derived from" []	559586	\N	\N	EFO	2	EFO	cell line	glioblastoma H54
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002782	"Glioblastoma H54 is a cell line derived from" []	559587	\N	\N	EFO	2	EFO	cell line	glioblastoma H54
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002782	"Glioblastoma H54 is a cell line derived from" []	1141540	\N	\N	EFO	3	EFO	material entity	glioblastoma H54
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002782	"Glioblastoma H54 is a cell line derived from" []	2024473	\N	\N	EFO	4	EFO	experimental factor	glioblastoma H54
EFO:0002783	\N	\N	"GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990." []	EFO:0002783	"GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990." []	65442	\N	\N	EFO	0	EFO	GM06990	GM06990
EFO:0002888	EFO:0002783	\N	"" []	EFO:0002783	"GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990." []	206479	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM06990
EFO:0002926	EFO:0002783	\N	"" []	EFO:0002783	"GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990." []	206480	\N	\N	EFO	1	EFO	ENCODE cell line	GM06990
EFO:0005292	EFO:0002783	\N	"" []	EFO:0002783	"GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990." []	206481	\N	\N	EFO	1	EFO	lymphoblastoid cell line	GM06990
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002783	"GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990." []	559588	\N	\N	EFO	2	EFO	cell line	GM06990
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002783	"GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990." []	559589	\N	\N	EFO	2	EFO	cell line	GM06990
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002783	"GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990." []	559590	\N	\N	EFO	2	EFO	cell line	GM06990
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002783	"GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990." []	1141541	\N	\N	EFO	3	EFO	material entity	GM06990
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002783	"GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990." []	2024474	\N	\N	EFO	4	EFO	experimental factor	GM06990
EFO:0002784	\N	\N	"" []	EFO:0002784	"" []	65443	\N	\N	EFO	0	EFO	GM12878	GM12878
EFO:0002888	EFO:0002784	\N	"" []	EFO:0002784	"" []	206482	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12878
EFO:0002926	EFO:0002784	\N	"" []	EFO:0002784	"" []	206483	\N	\N	EFO	1	EFO	ENCODE cell line	GM12878
EFO:0004902	EFO:0002784	\N	"" []	EFO:0002784	"" []	206484	\N	\N	EFO	1	EFO	European HapMap cell line	GM12878
EFO:0005292	EFO:0002784	\N	"" []	EFO:0002784	"" []	206485	\N	\N	EFO	1	EFO	lymphoblastoid cell line	GM12878
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002784	"" []	559591	\N	\N	EFO	2	EFO	cell line	GM12878
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002784	"" []	559592	\N	\N	EFO	2	EFO	cell line	GM12878
EFO:0002933	EFO:0004902	\N	"Cell lines used in experiments under the HapMap Project" []	EFO:0002784	"" []	559593	\N	\N	EFO	2	EFO	HapMap cell line	GM12878
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002784	"" []	559594	\N	\N	EFO	2	EFO	cell line	GM12878
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002784	"" []	2024476	\N	\N	EFO	4	EFO	material entity	GM12878
EFO:0000322	EFO:0002933	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002784	"" []	1141543	\N	\N	EFO	3	EFO	cell line	GM12878
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002784	"" []	2999465	\N	\N	EFO	5	EFO	experimental factor	GM12878
EFO:0002785	\N	\N	"" []	EFO:0002785	"" []	65444	\N	\N	EFO	0	EFO	GM12891	GM12891
EFO:0001640	EFO:0002785	\N	"" []	EFO:0002785	"" []	206486	\N	\N	EFO	1	EFO	B cell derived cell line	GM12891
EFO:0002888	EFO:0002785	\N	"" []	EFO:0002785	"" []	206487	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12891
EFO:0002926	EFO:0002785	\N	"" []	EFO:0002785	"" []	206488	\N	\N	EFO	1	EFO	ENCODE cell line	GM12891
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002785	"" []	559595	\N	\N	EFO	2	EFO	cell line	GM12891
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002785	"" []	559596	\N	\N	EFO	2	EFO	cell line	GM12891
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002785	"" []	559597	\N	\N	EFO	2	EFO	cell line	GM12891
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002785	"" []	1141544	\N	\N	EFO	3	EFO	material entity	GM12891
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002785	"" []	2024477	\N	\N	EFO	4	EFO	experimental factor	GM12891
EFO:0002786	\N	\N	"A GM12892 is a cell line.\\nA GM12892 is all of the following: something that has as quality a female, something that derives from Homo sapiens, and something that derives from a b cell." []	EFO:0002786	"A GM12892 is a cell line.\\nA GM12892 is all of the following: something that has as quality a female, something that derives from Homo sapiens, and something that derives from a b cell." []	65445	\N	\N	EFO	0	EFO	GM12892	GM12892
EFO:0001640	EFO:0002786	\N	"" []	EFO:0002786	"A GM12892 is a cell line.\\nA GM12892 is all of the following: something that has as quality a female, something that derives from Homo sapiens, and something that derives from a b cell." []	206489	\N	\N	EFO	1	EFO	B cell derived cell line	GM12892
EFO:0002888	EFO:0002786	\N	"" []	EFO:0002786	"A GM12892 is a cell line.\\nA GM12892 is all of the following: something that has as quality a female, something that derives from Homo sapiens, and something that derives from a b cell." []	206490	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12892
EFO:0002926	EFO:0002786	\N	"" []	EFO:0002786	"A GM12892 is a cell line.\\nA GM12892 is all of the following: something that has as quality a female, something that derives from Homo sapiens, and something that derives from a b cell." []	206491	\N	\N	EFO	1	EFO	ENCODE cell line	GM12892
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002786	"A GM12892 is a cell line.\\nA GM12892 is all of the following: something that has as quality a female, something that derives from Homo sapiens, and something that derives from a b cell." []	559598	\N	\N	EFO	2	EFO	cell line	GM12892
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002786	"A GM12892 is a cell line.\\nA GM12892 is all of the following: something that has as quality a female, something that derives from Homo sapiens, and something that derives from a b cell." []	559599	\N	\N	EFO	2	EFO	cell line	GM12892
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002786	"A GM12892 is a cell line.\\nA GM12892 is all of the following: something that has as quality a female, something that derives from Homo sapiens, and something that derives from a b cell." []	559600	\N	\N	EFO	2	EFO	cell line	GM12892
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002786	"A GM12892 is a cell line.\\nA GM12892 is all of the following: something that has as quality a female, something that derives from Homo sapiens, and something that derives from a b cell." []	1141545	\N	\N	EFO	3	EFO	material entity	GM12892
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002786	"A GM12892 is a cell line.\\nA GM12892 is all of the following: something that has as quality a female, something that derives from Homo sapiens, and something that derives from a b cell." []	2024478	\N	\N	EFO	4	EFO	experimental factor	GM12892
EFO:0002787	\N	\N	"A GM18507 is a cell line.\\nA GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast." []	EFO:0002787	"A GM18507 is a cell line.\\nA GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast." []	65446	\N	\N	EFO	0	EFO	GM18507	GM18507
EFO:0002888	EFO:0002787	\N	"" []	EFO:0002787	"A GM18507 is a cell line.\\nA GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast." []	206492	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM18507
EFO:0002926	EFO:0002787	\N	"" []	EFO:0002787	"A GM18507 is a cell line.\\nA GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast." []	206493	\N	\N	EFO	1	EFO	ENCODE cell line	GM18507
EFO:0002933	EFO:0002787	\N	"Cell lines used in experiments under the HapMap Project" []	EFO:0002787	"A GM18507 is a cell line.\\nA GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast." []	206494	\N	\N	EFO	1	EFO	HapMap cell line	GM18507
EFO:0005292	EFO:0002787	\N	"" []	EFO:0002787	"A GM18507 is a cell line.\\nA GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast." []	206495	\N	\N	EFO	1	EFO	lymphoblastoid cell line	GM18507
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002787	"A GM18507 is a cell line.\\nA GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast." []	559601	\N	\N	EFO	2	EFO	cell line	GM18507
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002787	"A GM18507 is a cell line.\\nA GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast." []	559602	\N	\N	EFO	2	EFO	cell line	GM18507
EFO:0000322	EFO:0002933	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002787	"A GM18507 is a cell line.\\nA GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast." []	559603	\N	\N	EFO	2	EFO	cell line	GM18507
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002787	"A GM18507 is a cell line.\\nA GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast." []	559604	\N	\N	EFO	2	EFO	cell line	GM18507
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002787	"A GM18507 is a cell line.\\nA GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast." []	1141546	\N	\N	EFO	3	EFO	material entity	GM18507
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002787	"A GM18507 is a cell line.\\nA GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast." []	2024479	\N	\N	EFO	4	EFO	experimental factor	GM18507
EFO:0002788	\N	\N	"A GM19238 is a cell line.\\nA GM19238 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	EFO:0002788	"A GM19238 is a cell line.\\nA GM19238 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	65447	\N	\N	EFO	0	EFO	GM19238	GM19238
EFO:0001640	EFO:0002788	\N	"" []	EFO:0002788	"A GM19238 is a cell line.\\nA GM19238 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	206496	\N	\N	EFO	1	EFO	B cell derived cell line	GM19238
EFO:0002888	EFO:0002788	\N	"" []	EFO:0002788	"A GM19238 is a cell line.\\nA GM19238 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	206497	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM19238
EFO:0002926	EFO:0002788	\N	"" []	EFO:0002788	"A GM19238 is a cell line.\\nA GM19238 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	206498	\N	\N	EFO	1	EFO	ENCODE cell line	GM19238
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002788	"A GM19238 is a cell line.\\nA GM19238 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	559605	\N	\N	EFO	2	EFO	cell line	GM19238
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002788	"A GM19238 is a cell line.\\nA GM19238 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	559606	\N	\N	EFO	2	EFO	cell line	GM19238
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002788	"A GM19238 is a cell line.\\nA GM19238 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	559607	\N	\N	EFO	2	EFO	cell line	GM19238
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002788	"A GM19238 is a cell line.\\nA GM19238 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	1141547	\N	\N	EFO	3	EFO	material entity	GM19238
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002788	"A GM19238 is a cell line.\\nA GM19238 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	2024480	\N	\N	EFO	4	EFO	experimental factor	GM19238
EFO:0002789	\N	\N	"A GM19239 is a cell line.\\nA GM19239 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a b cell." []	EFO:0002789	"A GM19239 is a cell line.\\nA GM19239 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a b cell." []	65448	\N	\N	EFO	0	EFO	GM19239	GM19239
EFO:0001640	EFO:0002789	\N	"" []	EFO:0002789	"A GM19239 is a cell line.\\nA GM19239 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a b cell." []	206499	\N	\N	EFO	1	EFO	B cell derived cell line	GM19239
EFO:0002888	EFO:0002789	\N	"" []	EFO:0002789	"A GM19239 is a cell line.\\nA GM19239 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a b cell." []	206500	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM19239
EFO:0002926	EFO:0002789	\N	"" []	EFO:0002789	"A GM19239 is a cell line.\\nA GM19239 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a b cell." []	206501	\N	\N	EFO	1	EFO	ENCODE cell line	GM19239
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002789	"A GM19239 is a cell line.\\nA GM19239 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a b cell." []	559608	\N	\N	EFO	2	EFO	cell line	GM19239
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002789	"A GM19239 is a cell line.\\nA GM19239 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a b cell." []	559609	\N	\N	EFO	2	EFO	cell line	GM19239
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002789	"A GM19239 is a cell line.\\nA GM19239 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a b cell." []	559610	\N	\N	EFO	2	EFO	cell line	GM19239
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002789	"A GM19239 is a cell line.\\nA GM19239 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a b cell." []	1141548	\N	\N	EFO	3	EFO	material entity	GM19239
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002789	"A GM19239 is a cell line.\\nA GM19239 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a b cell." []	2024481	\N	\N	EFO	4	EFO	experimental factor	GM19239
EFO:0002790	\N	\N	"A GM19240 is a cell line.\\nA GM19240 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	EFO:0002790	"A GM19240 is a cell line.\\nA GM19240 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	65449	\N	\N	EFO	0	EFO	GM19240	GM19240
EFO:0001640	EFO:0002790	\N	"" []	EFO:0002790	"A GM19240 is a cell line.\\nA GM19240 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	206502	\N	\N	EFO	1	EFO	B cell derived cell line	GM19240
EFO:0002888	EFO:0002790	\N	"" []	EFO:0002790	"A GM19240 is a cell line.\\nA GM19240 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	206503	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM19240
EFO:0002926	EFO:0002790	\N	"" []	EFO:0002790	"A GM19240 is a cell line.\\nA GM19240 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	206504	\N	\N	EFO	1	EFO	ENCODE cell line	GM19240
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002790	"A GM19240 is a cell line.\\nA GM19240 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	559611	\N	\N	EFO	2	EFO	cell line	GM19240
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002790	"A GM19240 is a cell line.\\nA GM19240 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	559612	\N	\N	EFO	2	EFO	cell line	GM19240
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002790	"A GM19240 is a cell line.\\nA GM19240 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	559613	\N	\N	EFO	2	EFO	cell line	GM19240
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002790	"A GM19240 is a cell line.\\nA GM19240 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	1141549	\N	\N	EFO	3	EFO	material entity	GM19240
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002790	"A GM19240 is a cell line.\\nA GM19240 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell." []	2024482	\N	\N	EFO	4	EFO	experimental factor	GM19240
EFO:0002791	\N	\N	"" []	EFO:0002791	"" []	65450	\N	\N	EFO	0	EFO	HeLa-S3	HeLa-S3
EFO:0002888	EFO:0002791	\N	"" []	EFO:0002791	"" []	206505	\N	\N	EFO	1	EFO	Homo sapiens cell line	HeLa-S3
EFO:0002926	EFO:0002791	\N	"" []	EFO:0002791	"" []	206506	\N	\N	EFO	1	EFO	ENCODE cell line	HeLa-S3
EFO:0005217	EFO:0002791	\N	"A cell line used as a model for cervical adenocarcinoma." []	EFO:0002791	"" []	206507	\N	\N	EFO	1	EFO	cervical adenocarcinoma cell line	HeLa-S3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002791	"" []	559614	\N	\N	EFO	2	EFO	cell line	HeLa-S3
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002791	"" []	559615	\N	\N	EFO	2	EFO	cell line	HeLa-S3
EFO:0001639	EFO:0005217	\N	"" []	EFO:0002791	"" []	559616	\N	\N	EFO	2	EFO	cancer cell line	HeLa-S3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002791	"" []	2024484	\N	\N	EFO	4	EFO	material entity	HeLa-S3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002791	"" []	1141551	\N	\N	EFO	3	EFO	cell line	HeLa-S3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002791	"" []	2999466	\N	\N	EFO	5	EFO	experimental factor	HeLa-S3
EFO:0002792	\N	\N	"A HGF is a cell line.\\nA HGF is all of the following: something that has as quality a normal, something that derives from a Homo \\nsapiens, and something that derives from a fibroblast." []	EFO:0002792	"A HGF is a cell line.\\nA HGF is all of the following: something that has as quality a normal, something that derives from a Homo \\nsapiens, and something that derives from a fibroblast." []	65451	\N	\N	EFO	0	EFO	HGF	HGF
EFO:0002009	EFO:0002792	\N	"" []	EFO:0002792	"A HGF is a cell line.\\nA HGF is all of the following: something that has as quality a normal, something that derives from a Homo \\nsapiens, and something that derives from a fibroblast." []	206508	\N	\N	EFO	1	EFO	fibroblast derived cell line	HGF
EFO:0002888	EFO:0002792	\N	"" []	EFO:0002792	"A HGF is a cell line.\\nA HGF is all of the following: something that has as quality a normal, something that derives from a Homo \\nsapiens, and something that derives from a fibroblast." []	206509	\N	\N	EFO	1	EFO	Homo sapiens cell line	HGF
EFO:0002922	EFO:0002792	\N	"" []	EFO:0002792	"A HGF is a cell line.\\nA HGF is all of the following: something that has as quality a normal, something that derives from a Homo \\nsapiens, and something that derives from a fibroblast." []	206510	\N	\N	EFO	1	EFO	normal cell line	HGF
EFO:0002926	EFO:0002792	\N	"" []	EFO:0002792	"A HGF is a cell line.\\nA HGF is all of the following: something that has as quality a normal, something that derives from a Homo \\nsapiens, and something that derives from a fibroblast." []	206511	\N	\N	EFO	1	EFO	ENCODE cell line	HGF
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002792	"A HGF is a cell line.\\nA HGF is all of the following: something that has as quality a normal, something that derives from a Homo \\nsapiens, and something that derives from a fibroblast." []	559617	\N	\N	EFO	2	EFO	cell line	HGF
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002792	"A HGF is a cell line.\\nA HGF is all of the following: something that has as quality a normal, something that derives from a Homo \\nsapiens, and something that derives from a fibroblast." []	559618	\N	\N	EFO	2	EFO	cell line	HGF
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002792	"A HGF is a cell line.\\nA HGF is all of the following: something that has as quality a normal, something that derives from a Homo \\nsapiens, and something that derives from a fibroblast." []	559619	\N	\N	EFO	2	EFO	cell line	HGF
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002792	"A HGF is a cell line.\\nA HGF is all of the following: something that has as quality a normal, something that derives from a Homo \\nsapiens, and something that derives from a fibroblast." []	559620	\N	\N	EFO	2	EFO	cell line	HGF
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002792	"A HGF is a cell line.\\nA HGF is all of the following: something that has as quality a normal, something that derives from a Homo \\nsapiens, and something that derives from a fibroblast." []	1141552	\N	\N	EFO	3	EFO	material entity	HGF
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002792	"A HGF is a cell line.\\nA HGF is all of the following: something that has as quality a normal, something that derives from a Homo \\nsapiens, and something that derives from a fibroblast." []	2024485	\N	\N	EFO	4	EFO	experimental factor	HGF
EFO:0002793	\N	\N	"Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." []	EFO:0002793	"Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." []	65452	\N	\N	EFO	0	EFO	HL-60	HL-60
EFO:0002888	EFO:0002793	\N	"" []	EFO:0002793	"Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." []	206512	\N	\N	EFO	1	EFO	Homo sapiens cell line	HL-60
EFO:0002926	EFO:0002793	\N	"" []	EFO:0002793	"Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." []	206513	\N	\N	EFO	1	EFO	ENCODE cell line	HL-60
EFO:0002937	EFO:0002793	\N	"" []	EFO:0002793	"Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." []	206514	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	HL-60
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002793	"Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." []	559621	\N	\N	EFO	2	EFO	cell line	HL-60
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002793	"Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." []	559622	\N	\N	EFO	2	EFO	cell line	HL-60
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002793	"Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." []	559623	\N	\N	EFO	2	EFO	cancer cell line	HL-60
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002793	"Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." []	2024487	\N	\N	EFO	4	EFO	material entity	HL-60
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002793	"Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." []	1141554	\N	\N	EFO	3	EFO	cell line	HL-60
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002793	"Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." []	2999467	\N	\N	EFO	5	EFO	experimental factor	HL-60
EFO:0002794	\N	\N	"" []	EFO:0002794	"" []	65453	\N	\N	EFO	0	EFO	HRE	HRE
EFO:0001641	EFO:0002794	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002794	"" []	206515	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HRE
EFO:0002888	EFO:0002794	\N	"" []	EFO:0002794	"" []	206516	\N	\N	EFO	1	EFO	Homo sapiens cell line	HRE
EFO:0002922	EFO:0002794	\N	"" []	EFO:0002794	"" []	206517	\N	\N	EFO	1	EFO	normal cell line	HRE
EFO:0002926	EFO:0002794	\N	"" []	EFO:0002794	"" []	206518	\N	\N	EFO	1	EFO	ENCODE cell line	HRE
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002794	"" []	559624	\N	\N	EFO	2	EFO	cell line	HRE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002794	"" []	559625	\N	\N	EFO	2	EFO	cell line	HRE
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002794	"" []	559626	\N	\N	EFO	2	EFO	cell line	HRE
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002794	"" []	559627	\N	\N	EFO	2	EFO	cell line	HRE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002794	"" []	1141555	\N	\N	EFO	3	EFO	material entity	HRE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002794	"" []	2024488	\N	\N	EFO	4	EFO	experimental factor	HRE
EFO:0002795	\N	\N	"" []	EFO:0002795	"" []	65454	\N	\N	EFO	0	EFO	HUVEC cell line	HUVEC cell line
EFO:0002888	EFO:0002795	\N	"" []	EFO:0002795	"" []	206519	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUVEC cell line
EFO:0002926	EFO:0002795	\N	"" []	EFO:0002795	"" []	206520	\N	\N	EFO	1	EFO	ENCODE cell line	HUVEC cell line
EFO:0005730	EFO:0002795	\N	"An endothelial cell derived cell line is defined as a cell line that derives from an endothelial cell." []	EFO:0002795	"" []	206521	\N	\N	EFO	1	EFO	endothelial cell derived cell line	HUVEC cell line
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002795	"" []	559628	\N	\N	EFO	2	EFO	cell line	HUVEC cell line
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002795	"" []	559629	\N	\N	EFO	2	EFO	cell line	HUVEC cell line
EFO:0000322	EFO:0005730	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002795	"" []	559630	\N	\N	EFO	2	EFO	cell line	HUVEC cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002795	"" []	1141556	\N	\N	EFO	3	EFO	material entity	HUVEC cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002795	"" []	2024489	\N	\N	EFO	4	EFO	experimental factor	HUVEC cell line
EFO:0002796	\N	\N	"Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." []	EFO:0002796	"Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." []	65455	\N	\N	EFO	0	EFO	Jurkat	Jurkat
EFO:0001639	EFO:0002796	\N	"" []	EFO:0002796	"Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." []	206522	\N	\N	EFO	1	EFO	cancer cell line	Jurkat
EFO:0002888	EFO:0002796	\N	"" []	EFO:0002796	"Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." []	206523	\N	\N	EFO	1	EFO	Homo sapiens cell line	Jurkat
EFO:0002926	EFO:0002796	\N	"" []	EFO:0002796	"Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." []	206524	\N	\N	EFO	1	EFO	ENCODE cell line	Jurkat
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002796	"Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." []	559631	\N	\N	EFO	2	EFO	cell line	Jurkat
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002796	"Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." []	559632	\N	\N	EFO	2	EFO	cell line	Jurkat
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002796	"Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." []	559633	\N	\N	EFO	2	EFO	cell line	Jurkat
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002796	"Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." []	1141557	\N	\N	EFO	3	EFO	material entity	Jurkat
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002796	"Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features." []	2024490	\N	\N	EFO	4	EFO	experimental factor	Jurkat
EFO:0002797	\N	\N	"LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." []	EFO:0002797	"LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." []	65456	\N	\N	EFO	0	EFO	LHSR	LHSR
EFO:0001641	EFO:0002797	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002797	"LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." []	206525	\N	\N	EFO	1	EFO	epithelial cell derived cell line	LHSR
EFO:0002888	EFO:0002797	\N	"" []	EFO:0002797	"LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." []	206526	\N	\N	EFO	1	EFO	Homo sapiens cell line	LHSR
EFO:0002891	EFO:0002797	\N	"Any cell line that is derived from the prostate." []	EFO:0002797	"LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." []	206527	\N	\N	EFO	1	EFO	prostate derived cell line	LHSR
EFO:0002926	EFO:0002797	\N	"" []	EFO:0002797	"LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." []	206528	\N	\N	EFO	1	EFO	ENCODE cell line	LHSR
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002797	"LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." []	559634	\N	\N	EFO	2	EFO	cell line	LHSR
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002797	"LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." []	559635	\N	\N	EFO	2	EFO	cell line	LHSR
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002797	"LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." []	559636	\N	\N	EFO	2	EFO	cell line	LHSR
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002797	"LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." []	559637	\N	\N	EFO	2	EFO	cell line	LHSR
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002797	"LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." []	1141558	\N	\N	EFO	3	EFO	material entity	LHSR
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002797	"LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells." []	2024491	\N	\N	EFO	4	EFO	experimental factor	LHSR
EFO:0002798	\N	\N	"" []	EFO:0002798	"" []	65457	\N	\N	EFO	0	EFO	NB4	NB4
EFO:0002926	EFO:0002798	\N	"" []	EFO:0002798	"" []	206529	\N	\N	EFO	1	EFO	ENCODE cell line	NB4
EFO:0002937	EFO:0002798	\N	"" []	EFO:0002798	"" []	206530	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	NB4
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002798	"" []	559638	\N	\N	EFO	2	EFO	cell line	NB4
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002798	"" []	559639	\N	\N	EFO	2	EFO	cancer cell line	NB4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002798	"" []	2024493	\N	\N	EFO	4	EFO	material entity	NB4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002798	"" []	1141560	\N	\N	EFO	3	EFO	cell line	NB4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002798	"" []	2999468	\N	\N	EFO	5	EFO	experimental factor	NB4
EFO:0002799	\N	\N	"" []	EFO:0002799	"" []	65458	\N	\N	EFO	0	EFO	NHEK	NHEK
EFO:0002926	EFO:0002799	\N	"" []	EFO:0002799	"" []	206531	\N	\N	EFO	1	EFO	ENCODE cell line	NHEK
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002799	"" []	559640	\N	\N	EFO	2	EFO	cell line	NHEK
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002799	"" []	1141561	\N	\N	EFO	3	EFO	material entity	NHEK
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002799	"" []	2024494	\N	\N	EFO	4	EFO	experimental factor	NHEK
EFO:0002800	\N	\N	"SAEC is a cell line derived from Small Airway Epithelial Cells" []	EFO:0002800	"SAEC is a cell line derived from Small Airway Epithelial Cells" []	65459	\N	\N	EFO	0	EFO	SAEC	SAEC
EFO:0001641	EFO:0002800	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002800	"SAEC is a cell line derived from Small Airway Epithelial Cells" []	206532	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SAEC
EFO:0002926	EFO:0002800	\N	"" []	EFO:0002800	"SAEC is a cell line derived from Small Airway Epithelial Cells" []	206533	\N	\N	EFO	1	EFO	ENCODE cell line	SAEC
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002800	"SAEC is a cell line derived from Small Airway Epithelial Cells" []	559641	\N	\N	EFO	2	EFO	cell line	SAEC
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002800	"SAEC is a cell line derived from Small Airway Epithelial Cells" []	559642	\N	\N	EFO	2	EFO	cell line	SAEC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002800	"SAEC is a cell line derived from Small Airway Epithelial Cells" []	1141562	\N	\N	EFO	3	EFO	material entity	SAEC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002800	"SAEC is a cell line derived from Small Airway Epithelial Cells" []	2024495	\N	\N	EFO	4	EFO	experimental factor	SAEC
EFO:0002801	\N	\N	"" []	EFO:0002801	"" []	65460	\N	\N	EFO	0	EFO	SKMC	SKMC
EFO:0002888	EFO:0002801	\N	"" []	EFO:0002801	"" []	206534	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKMC
EFO:0002926	EFO:0002801	\N	"" []	EFO:0002801	"" []	206535	\N	\N	EFO	1	EFO	ENCODE cell line	SKMC
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002801	"" []	559643	\N	\N	EFO	2	EFO	cell line	SKMC
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002801	"" []	559644	\N	\N	EFO	2	EFO	cell line	SKMC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002801	"" []	1141563	\N	\N	EFO	3	EFO	material entity	SKMC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002801	"" []	2024496	\N	\N	EFO	4	EFO	experimental factor	SKMC
EFO:0002802	\N	\N	"neuroblastoma cell line differentiated w/ retinoic acid" []	EFO:0002802	"neuroblastoma cell line differentiated w/ retinoic acid" []	65461	\N	\N	EFO	0	EFO	SK-N-SH_RA	SK-N-SH_RA
EFO:0002926	EFO:0002802	\N	"" []	EFO:0002802	"neuroblastoma cell line differentiated w/ retinoic acid" []	206536	\N	\N	EFO	1	EFO	ENCODE cell line	SK-N-SH_RA
EFO:0005214	EFO:0002802	\N	"A cell line which is a model for neuroblastoma." []	EFO:0002802	"neuroblastoma cell line differentiated w/ retinoic acid" []	206537	\N	\N	EFO	1	EFO	neuroblastoma cell line	SK-N-SH_RA
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002802	"neuroblastoma cell line differentiated w/ retinoic acid" []	559645	\N	\N	EFO	2	EFO	cell line	SK-N-SH_RA
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002802	"neuroblastoma cell line differentiated w/ retinoic acid" []	559646	\N	\N	EFO	2	EFO	cell line	SK-N-SH_RA
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002802	"neuroblastoma cell line differentiated w/ retinoic acid" []	1141564	\N	\N	EFO	3	EFO	material entity	SK-N-SH_RA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002802	"neuroblastoma cell line differentiated w/ retinoic acid" []	2024497	\N	\N	EFO	4	EFO	experimental factor	SK-N-SH_RA
EFO:0002803	\N	\N	"" []	EFO:0002803	"" []	65462	\N	\N	EFO	0	EFO	TH-1	TH-1
EFO:0002926	EFO:0002803	\N	"" []	EFO:0002803	"" []	206538	\N	\N	EFO	1	EFO	ENCODE cell line	TH-1
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002803	"" []	559647	\N	\N	EFO	2	EFO	cell line	TH-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002803	"" []	1141565	\N	\N	EFO	3	EFO	material entity	TH-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002803	"" []	2024498	\N	\N	EFO	4	EFO	experimental factor	TH-1
EFO:0002804	\N	\N	"" []	EFO:0002804	"" []	65463	\N	\N	EFO	0	EFO	TH-2	TH-2
EFO:0002926	EFO:0002804	\N	"" []	EFO:0002804	"" []	206539	\N	\N	EFO	1	EFO	ENCODE cell line	TH-2
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002804	"" []	559648	\N	\N	EFO	2	EFO	cell line	TH-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002804	"" []	1141566	\N	\N	EFO	3	EFO	material entity	TH-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002804	"" []	2024499	\N	\N	EFO	4	EFO	experimental factor	TH-2
EFO:0002807	\N	\N	"" []	EFO:0002807	"" []	65464	\N	\N	EFO	0	EFO	4470	4470
EFO:0002887	EFO:0002807	\N	"Cell lines derived from mice." []	EFO:0002807	"" []	206540	\N	\N	EFO	1	EFO	mouse cell line	4470
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002807	"" []	559649	\N	\N	EFO	2	EFO	cell line	4470
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002807	"" []	1141567	\N	\N	EFO	3	EFO	material entity	4470
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002807	"" []	2024500	\N	\N	EFO	4	EFO	experimental factor	4470
EFO:0002808	\N	\N	"" []	EFO:0002808	"" []	65465	\N	\N	EFO	0	EFO	4475	4475
EFO:0002887	EFO:0002808	\N	"Cell lines derived from mice." []	EFO:0002808	"" []	206541	\N	\N	EFO	1	EFO	mouse cell line	4475
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002808	"" []	559650	\N	\N	EFO	2	EFO	cell line	4475
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002808	"" []	1141568	\N	\N	EFO	3	EFO	material entity	4475
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002808	"" []	2024501	\N	\N	EFO	4	EFO	experimental factor	4475
EFO:0002809	\N	\N	"" []	EFO:0002809	"" []	65466	\N	\N	EFO	0	EFO	4483	4483
EFO:0002887	EFO:0002809	\N	"Cell lines derived from mice." []	EFO:0002809	"" []	206542	\N	\N	EFO	1	EFO	mouse cell line	4483
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002809	"" []	559651	\N	\N	EFO	2	EFO	cell line	4483
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002809	"" []	1141569	\N	\N	EFO	3	EFO	material entity	4483
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002809	"" []	2024502	\N	\N	EFO	4	EFO	experimental factor	4483
EFO:0002810	\N	\N	"A 1205 lu is a cell line.\\nA 1205 lu is both something that is bearer of a melanoma, and something that derives from a homo sapiens." []	EFO:0002810	"A 1205 lu is a cell line.\\nA 1205 lu is both something that is bearer of a melanoma, and something that derives from a homo sapiens." []	65467	\N	\N	EFO	0	EFO	1205-Lu	1205-Lu
BTO:0000849	EFO:0002810	\N	"" []	EFO:0002810	"A 1205 lu is a cell line.\\nA 1205 lu is both something that is bearer of a melanoma, and something that derives from a homo sapiens." []	206543	\N	\N	EFO	1	EFO	melanoma cell line	1205-Lu
EFO:0002888	EFO:0002810	\N	"" []	EFO:0002810	"A 1205 lu is a cell line.\\nA 1205 lu is both something that is bearer of a melanoma, and something that derives from a homo sapiens." []	206544	\N	\N	EFO	1	EFO	Homo sapiens cell line	1205-Lu
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002810	"A 1205 lu is a cell line.\\nA 1205 lu is both something that is bearer of a melanoma, and something that derives from a homo sapiens." []	559652	\N	\N	EFO	2	EFO	cancer cell line	1205-Lu
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002810	"A 1205 lu is a cell line.\\nA 1205 lu is both something that is bearer of a melanoma, and something that derives from a homo sapiens." []	559653	\N	\N	EFO	2	EFO	cell line	1205-Lu
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002810	"A 1205 lu is a cell line.\\nA 1205 lu is both something that is bearer of a melanoma, and something that derives from a homo sapiens." []	1141570	\N	\N	EFO	3	EFO	cell line	1205-Lu
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002810	"A 1205 lu is a cell line.\\nA 1205 lu is both something that is bearer of a melanoma, and something that derives from a homo sapiens." []	2024503	\N	\N	EFO	4	EFO	material entity	1205-Lu
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002810	"A 1205 lu is a cell line.\\nA 1205 lu is both something that is bearer of a melanoma, and something that derives from a homo sapiens." []	2999469	\N	\N	EFO	5	EFO	experimental factor	1205-Lu
EFO:0002811	\N	\N	"Preadipocyte cell line." []	EFO:0002811	"Preadipocyte cell line." []	65468	\N	\N	EFO	0	EFO	3T3-F442A	3T3-F442A
EFO:0002887	EFO:0002811	\N	"Cell lines derived from mice." []	EFO:0002811	"Preadipocyte cell line." []	206545	\N	\N	EFO	1	EFO	mouse cell line	3T3-F442A
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002811	"Preadipocyte cell line." []	559654	\N	\N	EFO	2	EFO	cell line	3T3-F442A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002811	"Preadipocyte cell line." []	1141572	\N	\N	EFO	3	EFO	material entity	3T3-F442A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002811	"Preadipocyte cell line." []	2024505	\N	\N	EFO	4	EFO	experimental factor	3T3-F442A
EFO:0002812	\N	\N	"An ab2.2 is a cell line.\\nAn ab2.2 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	EFO:0002812	"An ab2.2 is a cell line.\\nAn ab2.2 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	65469	\N	\N	EFO	0	EFO	AB2.2	AB2.2
EFO:0002887	EFO:0002812	\N	"Cell lines derived from mice." []	EFO:0002812	"An ab2.2 is a cell line.\\nAn ab2.2 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	206546	\N	\N	EFO	1	EFO	mouse cell line	AB2.2
EFO:0005738	EFO:0002812	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0002812	"An ab2.2 is a cell line.\\nAn ab2.2 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	206547	\N	\N	EFO	1	EFO	ESC derived cell line	AB2.2
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002812	"An ab2.2 is a cell line.\\nAn ab2.2 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	559655	\N	\N	EFO	2	EFO	cell line	AB2.2
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0002812	"An ab2.2 is a cell line.\\nAn ab2.2 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	559656	\N	\N	EFO	2	EFO	stem cell derived cell line	AB2.2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002812	"An ab2.2 is a cell line.\\nAn ab2.2 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	2024507	\N	\N	EFO	4	EFO	material entity	AB2.2
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002812	"An ab2.2 is a cell line.\\nAn ab2.2 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	1141574	\N	\N	EFO	3	EFO	cell line	AB2.2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002812	"An ab2.2 is a cell line.\\nAn ab2.2 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	2999470	\N	\N	EFO	5	EFO	experimental factor	AB2.2
EFO:0002813	\N	\N	"" []	EFO:0002813	"" []	65470	\N	\N	EFO	0	EFO	ABC-1	ABC-1
EFO:0002888	EFO:0002813	\N	"" []	EFO:0002813	"" []	206548	\N	\N	EFO	1	EFO	Homo sapiens cell line	ABC-1
EFO:0002934	EFO:0002813	\N	"" []	EFO:0002813	"" []	206549	\N	\N	EFO	1	EFO	lung cancer cell line	ABC-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002813	"" []	559657	\N	\N	EFO	2	EFO	cell line	ABC-1
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002813	"" []	559658	\N	\N	EFO	2	EFO	cancer cell line	ABC-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002813	"" []	2024509	\N	\N	EFO	4	EFO	material entity	ABC-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002813	"" []	1141576	\N	\N	EFO	3	EFO	cell line	ABC-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002813	"" []	2999471	\N	\N	EFO	5	EFO	experimental factor	ABC-1
EFO:0002814	\N	\N	"" []	EFO:0002814	"" []	65471	\N	\N	EFO	0	EFO	AZ-521	AZ-521
EFO:0001639	EFO:0002814	\N	"" []	EFO:0002814	"" []	206550	\N	\N	EFO	1	EFO	cancer cell line	AZ-521
EFO:0002888	EFO:0002814	\N	"" []	EFO:0002814	"" []	206551	\N	\N	EFO	1	EFO	Homo sapiens cell line	AZ-521
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002814	"" []	559659	\N	\N	EFO	2	EFO	cell line	AZ-521
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002814	"" []	559660	\N	\N	EFO	2	EFO	cell line	AZ-521
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002814	"" []	1141577	\N	\N	EFO	3	EFO	material entity	AZ-521
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002814	"" []	2024510	\N	\N	EFO	4	EFO	experimental factor	AZ-521
EFO:0002815	\N	\N	"The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line." []	EFO:0002815	"The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line." []	65472	\N	\N	EFO	0	EFO	BJAB	BJAB
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0002815	"The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line." []	194582	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	BJAB
EFO:0002888	EFO:0002815	\N	"" []	EFO:0002815	"The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line." []	206552	\N	\N	EFO	1	EFO	Homo sapiens cell line	BJAB
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002815	"The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line." []	559661	\N	\N	EFO	2	EFO	cell line	BJAB
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002815	"The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line." []	1141578	\N	\N	EFO	3	EFO	material entity	BJAB
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002815	"The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line." []	2024511	\N	\N	EFO	4	EFO	experimental factor	BJAB
EFO:0002816	\N	\N	"" []	EFO:0002816	"" []	65473	\N	\N	EFO	0	EFO	C3H10T1/2	C3H10T1/2
EFO:0002887	EFO:0002816	\N	"Cell lines derived from mice." []	EFO:0002816	"" []	206553	\N	\N	EFO	1	EFO	mouse cell line	C3H10T1/2
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002816	"" []	559662	\N	\N	EFO	2	EFO	cell line	C3H10T1/2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002816	"" []	1141579	\N	\N	EFO	3	EFO	material entity	C3H10T1/2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002816	"" []	2024512	\N	\N	EFO	4	EFO	experimental factor	C3H10T1/2
EFO:0002817	\N	\N	"" []	EFO:0002817	"" []	65474	\N	\N	EFO	0	EFO	Caco-2/TC7	Caco-2/TC7
EFO:0002888	EFO:0002817	\N	"" []	EFO:0002817	"" []	206554	\N	\N	EFO	1	EFO	Homo sapiens cell line	Caco-2/TC7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002817	"" []	559663	\N	\N	EFO	2	EFO	cell line	Caco-2/TC7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002817	"" []	1141580	\N	\N	EFO	3	EFO	material entity	Caco-2/TC7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002817	"" []	2024513	\N	\N	EFO	4	EFO	experimental factor	Caco-2/TC7
EFO:0002818	\N	\N	"A CADO ES1 is a cell line.\\nA CADO ES1 is both something that is bearer of a 39 s sarcoma, and something that derives from Homo sapiens." []	EFO:0002818	"A CADO ES1 is a cell line.\\nA CADO ES1 is both something that is bearer of a 39 s sarcoma, and something that derives from Homo sapiens." []	65475	\N	\N	EFO	0	EFO	CADO ES1	CADO ES1
EFO:0001639	EFO:0002818	\N	"" []	EFO:0002818	"A CADO ES1 is a cell line.\\nA CADO ES1 is both something that is bearer of a 39 s sarcoma, and something that derives from Homo sapiens." []	206555	\N	\N	EFO	1	EFO	cancer cell line	CADO ES1
EFO:0002888	EFO:0002818	\N	"" []	EFO:0002818	"A CADO ES1 is a cell line.\\nA CADO ES1 is both something that is bearer of a 39 s sarcoma, and something that derives from Homo sapiens." []	206556	\N	\N	EFO	1	EFO	Homo sapiens cell line	CADO ES1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002818	"A CADO ES1 is a cell line.\\nA CADO ES1 is both something that is bearer of a 39 s sarcoma, and something that derives from Homo sapiens." []	559664	\N	\N	EFO	2	EFO	cell line	CADO ES1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002818	"A CADO ES1 is a cell line.\\nA CADO ES1 is both something that is bearer of a 39 s sarcoma, and something that derives from Homo sapiens." []	559665	\N	\N	EFO	2	EFO	cell line	CADO ES1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002818	"A CADO ES1 is a cell line.\\nA CADO ES1 is both something that is bearer of a 39 s sarcoma, and something that derives from Homo sapiens." []	1141581	\N	\N	EFO	3	EFO	material entity	CADO ES1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002818	"A CADO ES1 is a cell line.\\nA CADO ES1 is both something that is bearer of a 39 s sarcoma, and something that derives from Homo sapiens." []	2024514	\N	\N	EFO	4	EFO	experimental factor	CADO ES1
EFO:0002819	\N	\N	"" []	EFO:0002819	"" []	65476	\N	\N	EFO	0	EFO	Calu3	Calu3
EFO:0002888	EFO:0002819	\N	"" []	EFO:0002819	"" []	206557	\N	\N	EFO	1	EFO	Homo sapiens cell line	Calu3
EFO:0002934	EFO:0002819	\N	"" []	EFO:0002819	"" []	206558	\N	\N	EFO	1	EFO	lung cancer cell line	Calu3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002819	"" []	559666	\N	\N	EFO	2	EFO	cell line	Calu3
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002819	"" []	559667	\N	\N	EFO	2	EFO	cancer cell line	Calu3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002819	"" []	2024516	\N	\N	EFO	4	EFO	material entity	Calu3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002819	"" []	1141583	\N	\N	EFO	3	EFO	cell line	Calu3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002819	"" []	2999472	\N	\N	EFO	5	EFO	experimental factor	Calu3
EFO:0002820	\N	\N	"A CM7-1 is a cell line.\\nA CM7-1 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	EFO:0002820	"A CM7-1 is a cell line.\\nA CM7-1 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	65477	\N	\N	EFO	0	EFO	CM7-1	CM7-1
EFO:0002887	EFO:0002820	\N	"Cell lines derived from mice." []	EFO:0002820	"A CM7-1 is a cell line.\\nA CM7-1 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	206559	\N	\N	EFO	1	EFO	mouse cell line	CM7-1
EFO:0005738	EFO:0002820	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0002820	"A CM7-1 is a cell line.\\nA CM7-1 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	206560	\N	\N	EFO	1	EFO	ESC derived cell line	CM7-1
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002820	"A CM7-1 is a cell line.\\nA CM7-1 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	559668	\N	\N	EFO	2	EFO	cell line	CM7-1
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0002820	"A CM7-1 is a cell line.\\nA CM7-1 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	559669	\N	\N	EFO	2	EFO	stem cell derived cell line	CM7-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002820	"A CM7-1 is a cell line.\\nA CM7-1 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	2024518	\N	\N	EFO	4	EFO	material entity	CM7-1
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002820	"A CM7-1 is a cell line.\\nA CM7-1 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	1141585	\N	\N	EFO	3	EFO	cell line	CM7-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002820	"A CM7-1 is a cell line.\\nA CM7-1 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell." []	2999473	\N	\N	EFO	5	EFO	experimental factor	CM7-1
EFO:0002821	\N	\N	"Mouse, C57BL/6, T-lymphocyte cell line." []	EFO:0002821	"Mouse, C57BL/6, T-lymphocyte cell line." []	65478	\N	\N	EFO	0	EFO	CTLL-2	CTLL-2
EFO:0002887	EFO:0002821	\N	"Cell lines derived from mice." []	EFO:0002821	"Mouse, C57BL/6, T-lymphocyte cell line." []	206561	\N	\N	EFO	1	EFO	mouse cell line	CTLL-2
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002821	"Mouse, C57BL/6, T-lymphocyte cell line." []	559670	\N	\N	EFO	2	EFO	cell line	CTLL-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002821	"Mouse, C57BL/6, T-lymphocyte cell line." []	1141586	\N	\N	EFO	3	EFO	material entity	CTLL-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002821	"Mouse, C57BL/6, T-lymphocyte cell line." []	2024519	\N	\N	EFO	4	EFO	experimental factor	CTLL-2
EFO:0002822	\N	\N	"" []	EFO:0002822	"" []	65479	\N	\N	EFO	0	EFO	D10.G4.1	D10.G4.1
EFO:0002887	EFO:0002822	\N	"Cell lines derived from mice." []	EFO:0002822	"" []	206562	\N	\N	EFO	1	EFO	mouse cell line	D10.G4.1
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002822	"" []	559671	\N	\N	EFO	2	EFO	cell line	D10.G4.1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002822	"" []	1141587	\N	\N	EFO	3	EFO	material entity	D10.G4.1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002822	"" []	2024520	\N	\N	EFO	4	EFO	experimental factor	D10.G4.1
EFO:0002824	\N	\N	"Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man." []	EFO:0002824	"Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man." []	65480	\N	\N	EFO	0	EFO	HCT116	HCT116
BTO:0000797	\N	\N	"" []	EFO:0002824	"Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man." []	194583	\N	\N	EFO	0	EFO	colonic cancer cell line	HCT116
EFO:0001639	EFO:0002824	\N	"" []	EFO:0002824	"Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man." []	206563	\N	\N	EFO	1	EFO	cancer cell line	HCT116
EFO:0002888	EFO:0002824	\N	"" []	EFO:0002824	"Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man." []	206564	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCT116
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002824	"Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man." []	559672	\N	\N	EFO	2	EFO	cell line	HCT116
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002824	"Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man." []	559673	\N	\N	EFO	2	EFO	cell line	HCT116
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002824	"Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man." []	1141588	\N	\N	EFO	3	EFO	material entity	HCT116
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002824	"Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man." []	2024521	\N	\N	EFO	4	EFO	experimental factor	HCT116
EFO:0002826	\N	\N	"The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor." []	EFO:0002826	"The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor." []	65481	\N	\N	EFO	0	EFO	KS-IMM	KS-IMM
EFO:0001639	EFO:0002826	\N	"" []	EFO:0002826	"The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor." []	206565	\N	\N	EFO	1	EFO	cancer cell line	KS-IMM
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002826	"The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor." []	559674	\N	\N	EFO	2	EFO	cell line	KS-IMM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002826	"The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor." []	1141589	\N	\N	EFO	3	EFO	material entity	KS-IMM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002826	"The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor." []	2024522	\N	\N	EFO	4	EFO	experimental factor	KS-IMM
EFO:0002827	\N	\N	"A LC-1F is a cell line.\\nA LC-1F is both something that is bearer of a squamous cell lung carcinoma, and something that derives from \\na Homo sapiens." []	EFO:0002827	"A LC-1F is a cell line.\\nA LC-1F is both something that is bearer of a squamous cell lung carcinoma, and something that derives from \\na Homo sapiens." []	65482	\N	\N	EFO	0	EFO	LC-1F	LC-1F
EFO:0002888	EFO:0002827	\N	"" []	EFO:0002827	"A LC-1F is a cell line.\\nA LC-1F is both something that is bearer of a squamous cell lung carcinoma, and something that derives from \\na Homo sapiens." []	206566	\N	\N	EFO	1	EFO	Homo sapiens cell line	LC-1F
EFO:0002934	EFO:0002827	\N	"" []	EFO:0002827	"A LC-1F is a cell line.\\nA LC-1F is both something that is bearer of a squamous cell lung carcinoma, and something that derives from \\na Homo sapiens." []	206567	\N	\N	EFO	1	EFO	lung cancer cell line	LC-1F
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002827	"A LC-1F is a cell line.\\nA LC-1F is both something that is bearer of a squamous cell lung carcinoma, and something that derives from \\na Homo sapiens." []	559675	\N	\N	EFO	2	EFO	cell line	LC-1F
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002827	"A LC-1F is a cell line.\\nA LC-1F is both something that is bearer of a squamous cell lung carcinoma, and something that derives from \\na Homo sapiens." []	559676	\N	\N	EFO	2	EFO	cancer cell line	LC-1F
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002827	"A LC-1F is a cell line.\\nA LC-1F is both something that is bearer of a squamous cell lung carcinoma, and something that derives from \\na Homo sapiens." []	2024524	\N	\N	EFO	4	EFO	material entity	LC-1F
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002827	"A LC-1F is a cell line.\\nA LC-1F is both something that is bearer of a squamous cell lung carcinoma, and something that derives from \\na Homo sapiens." []	1141591	\N	\N	EFO	3	EFO	cell line	LC-1F
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002827	"A LC-1F is a cell line.\\nA LC-1F is both something that is bearer of a squamous cell lung carcinoma, and something that derives from \\na Homo sapiens." []	2999474	\N	\N	EFO	5	EFO	experimental factor	LC-1F
EFO:0002828	\N	\N	"" []	EFO:0002828	"" []	65483	\N	\N	EFO	0	EFO	Lu135	Lu135
EFO:0002888	EFO:0002828	\N	"" []	EFO:0002828	"" []	206568	\N	\N	EFO	1	EFO	Homo sapiens cell line	Lu135
EFO:0002934	EFO:0002828	\N	"" []	EFO:0002828	"" []	206569	\N	\N	EFO	1	EFO	lung cancer cell line	Lu135
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002828	"" []	559677	\N	\N	EFO	2	EFO	cell line	Lu135
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002828	"" []	559678	\N	\N	EFO	2	EFO	cancer cell line	Lu135
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002828	"" []	2024526	\N	\N	EFO	4	EFO	material entity	Lu135
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002828	"" []	1141593	\N	\N	EFO	3	EFO	cell line	Lu135
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002828	"" []	2999475	\N	\N	EFO	5	EFO	experimental factor	Lu135
EFO:0002829	\N	\N	"The murine MIN6 cell line derived from in vivo immortalized insulin-secreting pancreatic beta cells." []	EFO:0002829	"The murine MIN6 cell line derived from in vivo immortalized insulin-secreting pancreatic beta cells." []	65484	\N	\N	EFO	0	EFO	MIN6	MIN6
EFO:0002887	EFO:0002829	\N	"Cell lines derived from mice." []	EFO:0002829	"The murine MIN6 cell line derived from in vivo immortalized insulin-secreting pancreatic beta cells." []	206570	\N	\N	EFO	1	EFO	mouse cell line	MIN6
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002829	"The murine MIN6 cell line derived from in vivo immortalized insulin-secreting pancreatic beta cells." []	559679	\N	\N	EFO	2	EFO	cell line	MIN6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002829	"The murine MIN6 cell line derived from in vivo immortalized insulin-secreting pancreatic beta cells." []	1141594	\N	\N	EFO	3	EFO	material entity	MIN6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002829	"The murine MIN6 cell line derived from in vivo immortalized insulin-secreting pancreatic beta cells." []	2024527	\N	\N	EFO	4	EFO	experimental factor	MIN6
EFO:0002830	\N	\N	"Human gastric adenosquamous carcinoma cell line." []	EFO:0002830	"Human gastric adenosquamous carcinoma cell line." []	65485	\N	\N	EFO	0	EFO	MKN1	MKN1
EFO:0001639	EFO:0002830	\N	"" []	EFO:0002830	"Human gastric adenosquamous carcinoma cell line." []	206571	\N	\N	EFO	1	EFO	cancer cell line	MKN1
EFO:0002888	EFO:0002830	\N	"" []	EFO:0002830	"Human gastric adenosquamous carcinoma cell line." []	206572	\N	\N	EFO	1	EFO	Homo sapiens cell line	MKN1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002830	"Human gastric adenosquamous carcinoma cell line." []	559680	\N	\N	EFO	2	EFO	cell line	MKN1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002830	"Human gastric adenosquamous carcinoma cell line." []	559681	\N	\N	EFO	2	EFO	cell line	MKN1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002830	"Human gastric adenosquamous carcinoma cell line." []	1141595	\N	\N	EFO	3	EFO	material entity	MKN1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002830	"Human gastric adenosquamous carcinoma cell line." []	2024528	\N	\N	EFO	4	EFO	experimental factor	MKN1
EFO:0002831	\N	\N	"Well differentiated human gastric adenocarcinoma cell line." []	EFO:0002831	"Well differentiated human gastric adenocarcinoma cell line." []	65486	\N	\N	EFO	0	EFO	MKN28	MKN28
EFO:0001639	EFO:0002831	\N	"" []	EFO:0002831	"Well differentiated human gastric adenocarcinoma cell line." []	206573	\N	\N	EFO	1	EFO	cancer cell line	MKN28
EFO:0002888	EFO:0002831	\N	"" []	EFO:0002831	"Well differentiated human gastric adenocarcinoma cell line." []	206574	\N	\N	EFO	1	EFO	Homo sapiens cell line	MKN28
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002831	"Well differentiated human gastric adenocarcinoma cell line." []	559682	\N	\N	EFO	2	EFO	cell line	MKN28
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002831	"Well differentiated human gastric adenocarcinoma cell line." []	559683	\N	\N	EFO	2	EFO	cell line	MKN28
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002831	"Well differentiated human gastric adenocarcinoma cell line." []	1141596	\N	\N	EFO	3	EFO	material entity	MKN28
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002831	"Well differentiated human gastric adenocarcinoma cell line." []	2024529	\N	\N	EFO	4	EFO	experimental factor	MKN28
EFO:0002832	\N	\N	"Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman." []	EFO:0002832	"Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman." []	65487	\N	\N	EFO	0	EFO	MKN45	MKN45
EFO:0001639	EFO:0002832	\N	"" []	EFO:0002832	"Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman." []	206575	\N	\N	EFO	1	EFO	cancer cell line	MKN45
EFO:0002888	EFO:0002832	\N	"" []	EFO:0002832	"Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman." []	206576	\N	\N	EFO	1	EFO	Homo sapiens cell line	MKN45
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002832	"Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman." []	559684	\N	\N	EFO	2	EFO	cell line	MKN45
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002832	"Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman." []	559685	\N	\N	EFO	2	EFO	cell line	MKN45
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002832	"Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman." []	1141597	\N	\N	EFO	3	EFO	material entity	MKN45
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002832	"Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman." []	2024530	\N	\N	EFO	4	EFO	experimental factor	MKN45
EFO:0002834	\N	\N	"Well differentiated human gastric adenocarcinoma cell line." []	EFO:0002834	"Well differentiated human gastric adenocarcinoma cell line." []	65488	\N	\N	EFO	0	EFO	MKN74	MKN74
EFO:0001639	EFO:0002834	\N	"" []	EFO:0002834	"Well differentiated human gastric adenocarcinoma cell line." []	206577	\N	\N	EFO	1	EFO	cancer cell line	MKN74
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002834	"Well differentiated human gastric adenocarcinoma cell line." []	559686	\N	\N	EFO	2	EFO	cell line	MKN74
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002834	"Well differentiated human gastric adenocarcinoma cell line." []	1141598	\N	\N	EFO	3	EFO	material entity	MKN74
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002834	"Well differentiated human gastric adenocarcinoma cell line." []	2024531	\N	\N	EFO	4	EFO	experimental factor	MKN74
EFO:0002835	\N	\N	"Homo sapiens (human) lung; fibroblast; normal cell line. The MRC-5 cell line was derived from normal lung tissue of a 14-week-old male fetus by J.P. Jacobs in September of 1966." []	EFO:0002835	"Homo sapiens (human) lung; fibroblast; normal cell line. The MRC-5 cell line was derived from normal lung tissue of a 14-week-old male fetus by J.P. Jacobs in September of 1966." []	65489	\N	\N	EFO	0	EFO	MRC5	MRC5
EFO:0002922	EFO:0002835	\N	"" []	EFO:0002835	"Homo sapiens (human) lung; fibroblast; normal cell line. The MRC-5 cell line was derived from normal lung tissue of a 14-week-old male fetus by J.P. Jacobs in September of 1966." []	206578	\N	\N	EFO	1	EFO	normal cell line	MRC5
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002835	"Homo sapiens (human) lung; fibroblast; normal cell line. The MRC-5 cell line was derived from normal lung tissue of a 14-week-old male fetus by J.P. Jacobs in September of 1966." []	559687	\N	\N	EFO	2	EFO	cell line	MRC5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002835	"Homo sapiens (human) lung; fibroblast; normal cell line. The MRC-5 cell line was derived from normal lung tissue of a 14-week-old male fetus by J.P. Jacobs in September of 1966." []	1141599	\N	\N	EFO	3	EFO	material entity	MRC5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002835	"Homo sapiens (human) lung; fibroblast; normal cell line. The MRC-5 cell line was derived from normal lung tissue of a 14-week-old male fetus by J.P. Jacobs in September of 1966." []	2024532	\N	\N	EFO	4	EFO	experimental factor	MRC5
EFO:0002836	\N	\N	"" []	EFO:0002836	"" []	65490	\N	\N	EFO	0	EFO	MS-1	MS-1
EFO:0002934	EFO:0002836	\N	"" []	EFO:0002836	"" []	206579	\N	\N	EFO	1	EFO	lung cancer cell line	MS-1
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002836	"" []	559688	\N	\N	EFO	2	EFO	cancer cell line	MS-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002836	"" []	1141600	\N	\N	EFO	3	EFO	cell line	MS-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002836	"" []	2024533	\N	\N	EFO	4	EFO	material entity	MS-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002836	"" []	3177574	\N	\N	EFO	5	EFO	experimental factor	MS-1
EFO:0002837	\N	\N	"" []	EFO:0002837	"" []	65491	\N	\N	EFO	0	EFO	MS428	MS428
EFO:0001639	EFO:0002837	\N	"" []	EFO:0002837	"" []	206580	\N	\N	EFO	1	EFO	cancer cell line	MS428
EFO:0002888	EFO:0002837	\N	"" []	EFO:0002837	"" []	206581	\N	\N	EFO	1	EFO	Homo sapiens cell line	MS428
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002837	"" []	559689	\N	\N	EFO	2	EFO	cell line	MS428
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002837	"" []	559690	\N	\N	EFO	2	EFO	cell line	MS428
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002837	"" []	1141601	\N	\N	EFO	3	EFO	material entity	MS428
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002837	"" []	2024534	\N	\N	EFO	4	EFO	experimental factor	MS428
EFO:0002838	\N	\N	"" []	EFO:0002838	"" []	65492	\N	\N	EFO	0	EFO	MS589	MS589
EFO:0001639	EFO:0002838	\N	"" []	EFO:0002838	"" []	206582	\N	\N	EFO	1	EFO	cancer cell line	MS589
EFO:0002888	EFO:0002838	\N	"" []	EFO:0002838	"" []	206583	\N	\N	EFO	1	EFO	Homo sapiens cell line	MS589
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002838	"" []	559691	\N	\N	EFO	2	EFO	cell line	MS589
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002838	"" []	559692	\N	\N	EFO	2	EFO	cell line	MS589
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002838	"" []	1141602	\N	\N	EFO	3	EFO	material entity	MS589
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002838	"" []	2024535	\N	\N	EFO	4	EFO	experimental factor	MS589
EFO:0002839	\N	\N	"Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy." []	EFO:0002839	"Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy." []	65493	\N	\N	EFO	0	EFO	MSTO-211H	MSTO-211H
EFO:0001639	EFO:0002839	\N	"" []	EFO:0002839	"Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy." []	206584	\N	\N	EFO	1	EFO	cancer cell line	MSTO-211H
EFO:0002888	EFO:0002839	\N	"" []	EFO:0002839	"Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy." []	206585	\N	\N	EFO	1	EFO	Homo sapiens cell line	MSTO-211H
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002839	"Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy." []	559693	\N	\N	EFO	2	EFO	cell line	MSTO-211H
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002839	"Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy." []	559694	\N	\N	EFO	2	EFO	cell line	MSTO-211H
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002839	"Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy." []	1141603	\N	\N	EFO	3	EFO	material entity	MSTO-211H
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002839	"Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy." []	2024536	\N	\N	EFO	4	EFO	experimental factor	MSTO-211H
EFO:0002840	\N	\N	"" []	EFO:0002840	"" []	65494	\N	\N	EFO	0	EFO	N231	N231
EFO:0002888	EFO:0002840	\N	"" []	EFO:0002840	"" []	206586	\N	\N	EFO	1	EFO	Homo sapiens cell line	N231
EFO:0002934	EFO:0002840	\N	"" []	EFO:0002840	"" []	206587	\N	\N	EFO	1	EFO	lung cancer cell line	N231
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002840	"" []	559695	\N	\N	EFO	2	EFO	cell line	N231
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002840	"" []	559696	\N	\N	EFO	2	EFO	cancer cell line	N231
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002840	"" []	2024538	\N	\N	EFO	4	EFO	material entity	N231
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002840	"" []	1141605	\N	\N	EFO	3	EFO	cell line	N231
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002840	"" []	2999476	\N	\N	EFO	5	EFO	experimental factor	N231
EFO:0002841	\N	\N	"" []	EFO:0002841	"" []	65495	\N	\N	EFO	0	EFO	NCI-N87	NCI-N87
EFO:0001639	EFO:0002841	\N	"" []	EFO:0002841	"" []	206588	\N	\N	EFO	1	EFO	cancer cell line	NCI-N87
EFO:0002888	EFO:0002841	\N	"" []	EFO:0002841	"" []	206589	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-N87
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002841	"" []	559697	\N	\N	EFO	2	EFO	cell line	NCI-N87
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002841	"" []	559698	\N	\N	EFO	2	EFO	cell line	NCI-N87
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002841	"" []	1141606	\N	\N	EFO	3	EFO	material entity	NCI-N87
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002841	"" []	2024539	\N	\N	EFO	4	EFO	experimental factor	NCI-N87
EFO:0002842	\N	\N	"" []	EFO:0002842	"" []	65496	\N	\N	EFO	0	EFO	PC-1	PC-1
EFO:0002888	EFO:0002842	\N	"" []	EFO:0002842	"" []	206590	\N	\N	EFO	1	EFO	Homo sapiens cell line	PC-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002842	"" []	559699	\N	\N	EFO	2	EFO	cell line	PC-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002842	"" []	1141607	\N	\N	EFO	3	EFO	material entity	PC-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002842	"" []	2024540	\N	\N	EFO	4	EFO	experimental factor	PC-1
EFO:0002843	\N	\N	"" []	EFO:0002843	"" []	65497	\N	\N	EFO	0	EFO	PC-10	PC-10
EFO:0002888	EFO:0002843	\N	"" []	EFO:0002843	"" []	206591	\N	\N	EFO	1	EFO	Homo sapiens cell line	PC-10
EFO:0002934	EFO:0002843	\N	"" []	EFO:0002843	"" []	206592	\N	\N	EFO	1	EFO	lung cancer cell line	PC-10
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002843	"" []	559700	\N	\N	EFO	2	EFO	cell line	PC-10
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002843	"" []	559701	\N	\N	EFO	2	EFO	cancer cell line	PC-10
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002843	"" []	2024542	\N	\N	EFO	4	EFO	material entity	PC-10
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002843	"" []	1141609	\N	\N	EFO	3	EFO	cell line	PC-10
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002843	"" []	2999477	\N	\N	EFO	5	EFO	experimental factor	PC-10
EFO:0002844	\N	\N	"" []	EFO:0002844	"" []	65498	\N	\N	EFO	0	EFO	PC-14	PC-14
EFO:0002888	EFO:0002844	\N	"" []	EFO:0002844	"" []	206593	\N	\N	EFO	1	EFO	Homo sapiens cell line	PC-14
EFO:0002934	EFO:0002844	\N	"" []	EFO:0002844	"" []	206594	\N	\N	EFO	1	EFO	lung cancer cell line	PC-14
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002844	"" []	559702	\N	\N	EFO	2	EFO	cell line	PC-14
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002844	"" []	559703	\N	\N	EFO	2	EFO	cancer cell line	PC-14
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002844	"" []	2024544	\N	\N	EFO	4	EFO	material entity	PC-14
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002844	"" []	1141611	\N	\N	EFO	3	EFO	cell line	PC-14
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002844	"" []	2999478	\N	\N	EFO	5	EFO	experimental factor	PC-14
EFO:0002845	\N	\N	"" []	EFO:0002845	"" []	65499	\N	\N	EFO	0	EFO	PC-6	PC-6
EFO:0002888	EFO:0002845	\N	"" []	EFO:0002845	"" []	206595	\N	\N	EFO	1	EFO	Homo sapiens cell line	PC-6
EFO:0002934	EFO:0002845	\N	"" []	EFO:0002845	"" []	206596	\N	\N	EFO	1	EFO	lung cancer cell line	PC-6
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002845	"" []	559704	\N	\N	EFO	2	EFO	cell line	PC-6
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002845	"" []	559705	\N	\N	EFO	2	EFO	cancer cell line	PC-6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002845	"" []	2024546	\N	\N	EFO	4	EFO	material entity	PC-6
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002845	"" []	1141613	\N	\N	EFO	3	EFO	cell line	PC-6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002845	"" []	2999479	\N	\N	EFO	5	EFO	experimental factor	PC-6
EFO:0002846	\N	\N	"" []	EFO:0002846	"" []	65500	\N	\N	EFO	0	EFO	PC-7	PC-7
EFO:0002888	EFO:0002846	\N	"" []	EFO:0002846	"" []	206597	\N	\N	EFO	1	EFO	Homo sapiens cell line	PC-7
EFO:0002934	EFO:0002846	\N	"" []	EFO:0002846	"" []	206598	\N	\N	EFO	1	EFO	lung cancer cell line	PC-7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002846	"" []	559706	\N	\N	EFO	2	EFO	cell line	PC-7
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002846	"" []	559707	\N	\N	EFO	2	EFO	cancer cell line	PC-7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002846	"" []	2024548	\N	\N	EFO	4	EFO	material entity	PC-7
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002846	"" []	1141615	\N	\N	EFO	3	EFO	cell line	PC-7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002846	"" []	2999480	\N	\N	EFO	5	EFO	experimental factor	PC-7
EFO:0002847	\N	\N	"" []	EFO:0002847	"" []	65501	\N	\N	EFO	0	EFO	PC-9	PC-9
EFO:0002888	EFO:0002847	\N	"" []	EFO:0002847	"" []	206599	\N	\N	EFO	1	EFO	Homo sapiens cell line	PC-9
EFO:0002934	EFO:0002847	\N	"" []	EFO:0002847	"" []	206600	\N	\N	EFO	1	EFO	lung cancer cell line	PC-9
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002847	"" []	559708	\N	\N	EFO	2	EFO	cell line	PC-9
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002847	"" []	559709	\N	\N	EFO	2	EFO	cancer cell line	PC-9
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002847	"" []	2024550	\N	\N	EFO	4	EFO	material entity	PC-9
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002847	"" []	1141617	\N	\N	EFO	3	EFO	cell line	PC-9
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002847	"" []	2999481	\N	\N	EFO	5	EFO	experimental factor	PC-9
EFO:0002848	\N	\N	"" []	EFO:0002848	"" []	65502	\N	\N	EFO	0	EFO	QG56	QG56
EFO:0002888	EFO:0002848	\N	"" []	EFO:0002848	"" []	206601	\N	\N	EFO	1	EFO	Homo sapiens cell line	QG56
EFO:0002934	EFO:0002848	\N	"" []	EFO:0002848	"" []	206602	\N	\N	EFO	1	EFO	lung cancer cell line	QG56
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002848	"" []	559710	\N	\N	EFO	2	EFO	cell line	QG56
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002848	"" []	559711	\N	\N	EFO	2	EFO	cancer cell line	QG56
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002848	"" []	2024552	\N	\N	EFO	4	EFO	material entity	QG56
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002848	"" []	1141619	\N	\N	EFO	3	EFO	cell line	QG56
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002848	"" []	2999482	\N	\N	EFO	5	EFO	experimental factor	QG56
EFO:0002849	\N	\N	"" []	EFO:0002849	"" []	65503	\N	\N	EFO	0	EFO	R11	R11
EFO:0001639	EFO:0002849	\N	"" []	EFO:0002849	"" []	206603	\N	\N	EFO	1	EFO	cancer cell line	R11
EFO:0002888	EFO:0002849	\N	"" []	EFO:0002849	"" []	206604	\N	\N	EFO	1	EFO	Homo sapiens cell line	R11
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002849	"" []	559712	\N	\N	EFO	2	EFO	cell line	R11
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002849	"" []	559713	\N	\N	EFO	2	EFO	cell line	R11
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002849	"" []	1141620	\N	\N	EFO	3	EFO	material entity	R11
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002849	"" []	2024553	\N	\N	EFO	4	EFO	experimental factor	R11
EFO:0002850	\N	\N	"" []	EFO:0002850	"" []	65504	\N	\N	EFO	0	EFO	RERF-LC-AI	RERF-LC-AI
EFO:0002888	EFO:0002850	\N	"" []	EFO:0002850	"" []	206605	\N	\N	EFO	1	EFO	Homo sapiens cell line	RERF-LC-AI
EFO:0002934	EFO:0002850	\N	"" []	EFO:0002850	"" []	206606	\N	\N	EFO	1	EFO	lung cancer cell line	RERF-LC-AI
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002850	"" []	559714	\N	\N	EFO	2	EFO	cell line	RERF-LC-AI
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002850	"" []	559715	\N	\N	EFO	2	EFO	cancer cell line	RERF-LC-AI
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002850	"" []	2024555	\N	\N	EFO	4	EFO	material entity	RERF-LC-AI
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002850	"" []	1141622	\N	\N	EFO	3	EFO	cell line	RERF-LC-AI
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002850	"" []	2999483	\N	\N	EFO	5	EFO	experimental factor	RERF-LC-AI
EFO:0002851	\N	\N	"" []	EFO:0002851	"" []	65505	\N	\N	EFO	0	EFO	RERF-LC-KJ	RERF-LC-KJ
EFO:0002888	EFO:0002851	\N	"" []	EFO:0002851	"" []	206607	\N	\N	EFO	1	EFO	Homo sapiens cell line	RERF-LC-KJ
EFO:0002934	EFO:0002851	\N	"" []	EFO:0002851	"" []	206608	\N	\N	EFO	1	EFO	lung cancer cell line	RERF-LC-KJ
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002851	"" []	559716	\N	\N	EFO	2	EFO	cell line	RERF-LC-KJ
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002851	"" []	559717	\N	\N	EFO	2	EFO	cancer cell line	RERF-LC-KJ
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002851	"" []	2024557	\N	\N	EFO	4	EFO	material entity	RERF-LC-KJ
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002851	"" []	1141624	\N	\N	EFO	3	EFO	cell line	RERF-LC-KJ
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002851	"" []	2999484	\N	\N	EFO	5	EFO	experimental factor	RERF-LC-KJ
EFO:0002852	\N	\N	"" []	EFO:0002852	"" []	65506	\N	\N	EFO	0	EFO	RERF-LC-MS	RERF-LC-MS
EFO:0002888	EFO:0002852	\N	"" []	EFO:0002852	"" []	206609	\N	\N	EFO	1	EFO	Homo sapiens cell line	RERF-LC-MS
EFO:0002934	EFO:0002852	\N	"" []	EFO:0002852	"" []	206610	\N	\N	EFO	1	EFO	lung cancer cell line	RERF-LC-MS
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002852	"" []	559718	\N	\N	EFO	2	EFO	cell line	RERF-LC-MS
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002852	"" []	559719	\N	\N	EFO	2	EFO	cancer cell line	RERF-LC-MS
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002852	"" []	2024559	\N	\N	EFO	4	EFO	material entity	RERF-LC-MS
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002852	"" []	1141626	\N	\N	EFO	3	EFO	cell line	RERF-LC-MS
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002852	"" []	2999485	\N	\N	EFO	5	EFO	experimental factor	RERF-LC-MS
EFO:0002853	\N	\N	"A RM 82 is a cell line.\\nA RM 82 is both something that is bearer of a 39 s sarcoma, and something that derives from a Homo \\nsapiens." []	EFO:0002853	"A RM 82 is a cell line.\\nA RM 82 is both something that is bearer of a 39 s sarcoma, and something that derives from a Homo \\nsapiens." []	65507	\N	\N	EFO	0	EFO	RM 82	RM 82
EFO:0001639	EFO:0002853	\N	"" []	EFO:0002853	"A RM 82 is a cell line.\\nA RM 82 is both something that is bearer of a 39 s sarcoma, and something that derives from a Homo \\nsapiens." []	206611	\N	\N	EFO	1	EFO	cancer cell line	RM 82
EFO:0002888	EFO:0002853	\N	"" []	EFO:0002853	"A RM 82 is a cell line.\\nA RM 82 is both something that is bearer of a 39 s sarcoma, and something that derives from a Homo \\nsapiens." []	206612	\N	\N	EFO	1	EFO	Homo sapiens cell line	RM 82
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002853	"A RM 82 is a cell line.\\nA RM 82 is both something that is bearer of a 39 s sarcoma, and something that derives from a Homo \\nsapiens." []	559720	\N	\N	EFO	2	EFO	cell line	RM 82
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002853	"A RM 82 is a cell line.\\nA RM 82 is both something that is bearer of a 39 s sarcoma, and something that derives from a Homo \\nsapiens." []	559721	\N	\N	EFO	2	EFO	cell line	RM 82
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002853	"A RM 82 is a cell line.\\nA RM 82 is both something that is bearer of a 39 s sarcoma, and something that derives from a Homo \\nsapiens." []	1141627	\N	\N	EFO	3	EFO	material entity	RM 82
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002853	"A RM 82 is a cell line.\\nA RM 82 is both something that is bearer of a 39 s sarcoma, and something that derives from a Homo \\nsapiens." []	2024560	\N	\N	EFO	4	EFO	experimental factor	RM 82
EFO:0002854	\N	\N	"A SBC-3 is a cell line.\\nA SBC-3 is both something that is bearer of a small cell lung carcinoma, and something that derives from a \\nHomo sapiens." []	EFO:0002854	"A SBC-3 is a cell line.\\nA SBC-3 is both something that is bearer of a small cell lung carcinoma, and something that derives from a \\nHomo sapiens." []	65508	\N	\N	EFO	0	EFO	SBC-3	SBC-3
EFO:0002888	EFO:0002854	\N	"" []	EFO:0002854	"A SBC-3 is a cell line.\\nA SBC-3 is both something that is bearer of a small cell lung carcinoma, and something that derives from a \\nHomo sapiens." []	206613	\N	\N	EFO	1	EFO	Homo sapiens cell line	SBC-3
EFO:0002934	EFO:0002854	\N	"" []	EFO:0002854	"A SBC-3 is a cell line.\\nA SBC-3 is both something that is bearer of a small cell lung carcinoma, and something that derives from a \\nHomo sapiens." []	206614	\N	\N	EFO	1	EFO	lung cancer cell line	SBC-3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002854	"A SBC-3 is a cell line.\\nA SBC-3 is both something that is bearer of a small cell lung carcinoma, and something that derives from a \\nHomo sapiens." []	559722	\N	\N	EFO	2	EFO	cell line	SBC-3
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002854	"A SBC-3 is a cell line.\\nA SBC-3 is both something that is bearer of a small cell lung carcinoma, and something that derives from a \\nHomo sapiens." []	559723	\N	\N	EFO	2	EFO	cancer cell line	SBC-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002854	"A SBC-3 is a cell line.\\nA SBC-3 is both something that is bearer of a small cell lung carcinoma, and something that derives from a \\nHomo sapiens." []	2024562	\N	\N	EFO	4	EFO	material entity	SBC-3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002854	"A SBC-3 is a cell line.\\nA SBC-3 is both something that is bearer of a small cell lung carcinoma, and something that derives from a \\nHomo sapiens." []	1141629	\N	\N	EFO	3	EFO	cell line	SBC-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002854	"A SBC-3 is a cell line.\\nA SBC-3 is both something that is bearer of a small cell lung carcinoma, and something that derives from a \\nHomo sapiens." []	2999486	\N	\N	EFO	5	EFO	experimental factor	SBC-3
EFO:0002855	\N	\N	"" []	EFO:0002855	"" []	65509	\N	\N	EFO	0	EFO	SBC-5	SBC-5
EFO:0002888	EFO:0002855	\N	"" []	EFO:0002855	"" []	206615	\N	\N	EFO	1	EFO	Homo sapiens cell line	SBC-5
EFO:0002934	EFO:0002855	\N	"" []	EFO:0002855	"" []	206616	\N	\N	EFO	1	EFO	lung cancer cell line	SBC-5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002855	"" []	559724	\N	\N	EFO	2	EFO	cell line	SBC-5
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002855	"" []	559725	\N	\N	EFO	2	EFO	cancer cell line	SBC-5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002855	"" []	2024564	\N	\N	EFO	4	EFO	material entity	SBC-5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002855	"" []	1141631	\N	\N	EFO	3	EFO	cell line	SBC-5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002855	"" []	2999487	\N	\N	EFO	5	EFO	experimental factor	SBC-5
EFO:0002856	\N	\N	"" []	EFO:0002856	"" []	65510	\N	\N	EFO	0	EFO	SCH	SCH
EFO:0001639	EFO:0002856	\N	"" []	EFO:0002856	"" []	206617	\N	\N	EFO	1	EFO	cancer cell line	SCH
EFO:0002888	EFO:0002856	\N	"" []	EFO:0002856	"" []	206618	\N	\N	EFO	1	EFO	Homo sapiens cell line	SCH
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002856	"" []	559726	\N	\N	EFO	2	EFO	cell line	SCH
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002856	"" []	559727	\N	\N	EFO	2	EFO	cell line	SCH
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002856	"" []	1141632	\N	\N	EFO	3	EFO	material entity	SCH
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002856	"" []	2024565	\N	\N	EFO	4	EFO	experimental factor	SCH
EFO:0002857	\N	\N	"" []	EFO:0002857	"" []	65511	\N	\N	EFO	0	EFO	SHEP-SF	SHEP-SF
EFO:0002888	EFO:0002857	\N	"" []	EFO:0002857	"" []	206619	\N	\N	EFO	1	EFO	Homo sapiens cell line	SHEP-SF
EFO:0005214	EFO:0002857	\N	"A cell line which is a model for neuroblastoma." []	EFO:0002857	"" []	206620	\N	\N	EFO	1	EFO	neuroblastoma cell line	SHEP-SF
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002857	"" []	559728	\N	\N	EFO	2	EFO	cell line	SHEP-SF
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002857	"" []	559729	\N	\N	EFO	2	EFO	cell line	SHEP-SF
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002857	"" []	1141633	\N	\N	EFO	3	EFO	material entity	SHEP-SF
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002857	"" []	2024566	\N	\N	EFO	4	EFO	experimental factor	SHEP-SF
EFO:0002858	\N	\N	"" []	EFO:0002858	"" []	65512	\N	\N	EFO	0	EFO	SK-ES-1	SK-ES-1
EFO:0001639	EFO:0002858	\N	"" []	EFO:0002858	"" []	206621	\N	\N	EFO	1	EFO	cancer cell line	SK-ES-1
EFO:0002888	EFO:0002858	\N	"" []	EFO:0002858	"" []	206622	\N	\N	EFO	1	EFO	Homo sapiens cell line	SK-ES-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002858	"" []	559730	\N	\N	EFO	2	EFO	cell line	SK-ES-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002858	"" []	559731	\N	\N	EFO	2	EFO	cell line	SK-ES-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002858	"" []	1141634	\N	\N	EFO	3	EFO	material entity	SK-ES-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002858	"" []	2024567	\N	\N	EFO	4	EFO	experimental factor	SK-ES-1
EFO:0002859	\N	\N	"" []	EFO:0002859	"" []	65513	\N	\N	EFO	0	EFO	SK-N-AS	SK-N-AS
EFO:0002888	EFO:0002859	\N	"" []	EFO:0002859	"" []	206623	\N	\N	EFO	1	EFO	Homo sapiens cell line	SK-N-AS
EFO:0005214	EFO:0002859	\N	"A cell line which is a model for neuroblastoma." []	EFO:0002859	"" []	206624	\N	\N	EFO	1	EFO	neuroblastoma cell line	SK-N-AS
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002859	"" []	559732	\N	\N	EFO	2	EFO	cell line	SK-N-AS
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002859	"" []	559733	\N	\N	EFO	2	EFO	cell line	SK-N-AS
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002859	"" []	1141635	\N	\N	EFO	3	EFO	material entity	SK-N-AS
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002859	"" []	2024568	\N	\N	EFO	4	EFO	experimental factor	SK-N-AS
EFO:0002860	\N	\N	"" []	EFO:0002860	"" []	65514	\N	\N	EFO	0	EFO	SK-N-MC	SK-N-MC
EFO:0001639	EFO:0002860	\N	"" []	EFO:0002860	"" []	206625	\N	\N	EFO	1	EFO	cancer cell line	SK-N-MC
EFO:0002888	EFO:0002860	\N	"" []	EFO:0002860	"" []	206626	\N	\N	EFO	1	EFO	Homo sapiens cell line	SK-N-MC
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002860	"" []	559734	\N	\N	EFO	2	EFO	cell line	SK-N-MC
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002860	"" []	559735	\N	\N	EFO	2	EFO	cell line	SK-N-MC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002860	"" []	1141636	\N	\N	EFO	3	EFO	material entity	SK-N-MC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002860	"" []	2024569	\N	\N	EFO	4	EFO	experimental factor	SK-N-MC
EFO:0002861	\N	\N	"" []	EFO:0002861	"" []	65515	\N	\N	EFO	0	EFO	SQ-5	SQ-5
EFO:0002888	EFO:0002861	\N	"" []	EFO:0002861	"" []	206627	\N	\N	EFO	1	EFO	Homo sapiens cell line	SQ-5
EFO:0002934	EFO:0002861	\N	"" []	EFO:0002861	"" []	206628	\N	\N	EFO	1	EFO	lung cancer cell line	SQ-5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002861	"" []	559736	\N	\N	EFO	2	EFO	cell line	SQ-5
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002861	"" []	559737	\N	\N	EFO	2	EFO	cancer cell line	SQ-5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002861	"" []	2024571	\N	\N	EFO	4	EFO	material entity	SQ-5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002861	"" []	1141638	\N	\N	EFO	3	EFO	cell line	SQ-5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002861	"" []	2999488	\N	\N	EFO	5	EFO	experimental factor	SQ-5
EFO:0002862	\N	\N	"" []	EFO:0002862	"" []	65516	\N	\N	EFO	0	EFO	STA-ET-1	STA-ET-1
EFO:0001639	EFO:0002862	\N	"" []	EFO:0002862	"" []	206629	\N	\N	EFO	1	EFO	cancer cell line	STA-ET-1
EFO:0002888	EFO:0002862	\N	"" []	EFO:0002862	"" []	206630	\N	\N	EFO	1	EFO	Homo sapiens cell line	STA-ET-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002862	"" []	559738	\N	\N	EFO	2	EFO	cell line	STA-ET-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002862	"" []	559739	\N	\N	EFO	2	EFO	cell line	STA-ET-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002862	"" []	1141639	\N	\N	EFO	3	EFO	material entity	STA-ET-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002862	"" []	2024572	\N	\N	EFO	4	EFO	experimental factor	STA-ET-1
EFO:0002863	\N	\N	"" []	EFO:0002863	"" []	65517	\N	\N	EFO	0	EFO	STA-ET-2.1	STA-ET-2.1
EFO:0001639	EFO:0002863	\N	"" []	EFO:0002863	"" []	206631	\N	\N	EFO	1	EFO	cancer cell line	STA-ET-2.1
EFO:0002888	EFO:0002863	\N	"" []	EFO:0002863	"" []	206632	\N	\N	EFO	1	EFO	Homo sapiens cell line	STA-ET-2.1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002863	"" []	559740	\N	\N	EFO	2	EFO	cell line	STA-ET-2.1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002863	"" []	559741	\N	\N	EFO	2	EFO	cell line	STA-ET-2.1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002863	"" []	1141640	\N	\N	EFO	3	EFO	material entity	STA-ET-2.1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002863	"" []	2024573	\N	\N	EFO	4	EFO	experimental factor	STA-ET-2.1
EFO:0002864	\N	\N	"" []	EFO:0002864	"" []	65518	\N	\N	EFO	0	EFO	T24	T24
EFO:0001639	EFO:0002864	\N	"" []	EFO:0002864	"" []	206633	\N	\N	EFO	1	EFO	cancer cell line	T24
EFO:0002888	EFO:0002864	\N	"" []	EFO:0002864	"" []	206634	\N	\N	EFO	1	EFO	Homo sapiens cell line	T24
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002864	"" []	559742	\N	\N	EFO	2	EFO	cell line	T24
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002864	"" []	559743	\N	\N	EFO	2	EFO	cell line	T24
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002864	"" []	1141641	\N	\N	EFO	3	EFO	material entity	T24
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002864	"" []	2024574	\N	\N	EFO	4	EFO	experimental factor	T24
EFO:0002865	\N	\N	"" []	EFO:0002865	"" []	65519	\N	\N	EFO	0	EFO	TC71	TC71
EFO:0001639	EFO:0002865	\N	"" []	EFO:0002865	"" []	206635	\N	\N	EFO	1	EFO	cancer cell line	TC71
EFO:0002888	EFO:0002865	\N	"" []	EFO:0002865	"" []	206636	\N	\N	EFO	1	EFO	Homo sapiens cell line	TC71
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002865	"" []	559744	\N	\N	EFO	2	EFO	cell line	TC71
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002865	"" []	559745	\N	\N	EFO	2	EFO	cell line	TC71
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002865	"" []	1141642	\N	\N	EFO	3	EFO	material entity	TC71
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002865	"" []	2024575	\N	\N	EFO	4	EFO	experimental factor	TC71
EFO:0002866	\N	\N	"" []	EFO:0002866	"" []	65520	\N	\N	EFO	0	EFO	TE85	TE85
EFO:0001639	EFO:0002866	\N	"" []	EFO:0002866	"" []	206637	\N	\N	EFO	1	EFO	cancer cell line	TE85
EFO:0002888	EFO:0002866	\N	"" []	EFO:0002866	"" []	206638	\N	\N	EFO	1	EFO	Homo sapiens cell line	TE85
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002866	"" []	559746	\N	\N	EFO	2	EFO	cell line	TE85
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002866	"" []	559747	\N	\N	EFO	2	EFO	cell line	TE85
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002866	"" []	1141643	\N	\N	EFO	3	EFO	material entity	TE85
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002866	"" []	2024576	\N	\N	EFO	4	EFO	experimental factor	TE85
EFO:0002867	\N	\N	"" []	EFO:0002867	"" []	65521	\N	\N	EFO	0	EFO	TMK1	TMK1
EFO:0001639	EFO:0002867	\N	"" []	EFO:0002867	"" []	206639	\N	\N	EFO	1	EFO	cancer cell line	TMK1
EFO:0002888	EFO:0002867	\N	"" []	EFO:0002867	"" []	206640	\N	\N	EFO	1	EFO	Homo sapiens cell line	TMK1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002867	"" []	559748	\N	\N	EFO	2	EFO	cell line	TMK1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002867	"" []	559749	\N	\N	EFO	2	EFO	cell line	TMK1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002867	"" []	1141644	\N	\N	EFO	3	EFO	material entity	TMK1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002867	"" []	2024577	\N	\N	EFO	4	EFO	experimental factor	TMK1
EFO:0002868	\N	\N	"" []	EFO:0002868	"" []	65522	\N	\N	EFO	0	EFO	TT3E	TT3E
EFO:0002887	EFO:0002868	\N	"Cell lines derived from mice." []	EFO:0002868	"" []	206641	\N	\N	EFO	1	EFO	mouse cell line	TT3E
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002868	"" []	559750	\N	\N	EFO	2	EFO	cell line	TT3E
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002868	"" []	1141645	\N	\N	EFO	3	EFO	material entity	TT3E
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002868	"" []	2024578	\N	\N	EFO	4	EFO	experimental factor	TT3E
EFO:0002869	\N	\N	"" []	EFO:0002869	"" []	65523	\N	\N	EFO	0	EFO	U2OS	U2OS
EFO:0001639	EFO:0002869	\N	"" []	EFO:0002869	"" []	206642	\N	\N	EFO	1	EFO	cancer cell line	U2OS
EFO:0002888	EFO:0002869	\N	"" []	EFO:0002869	"" []	206643	\N	\N	EFO	1	EFO	Homo sapiens cell line	U2OS
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002869	"" []	559751	\N	\N	EFO	2	EFO	cell line	U2OS
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002869	"" []	559752	\N	\N	EFO	2	EFO	cell line	U2OS
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002869	"" []	1141646	\N	\N	EFO	3	EFO	material entity	U2OS
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002869	"" []	2024579	\N	\N	EFO	4	EFO	experimental factor	U2OS
EFO:0002870	\N	\N	"" []	EFO:0002870	"" []	65524	\N	\N	EFO	0	EFO	VH-64	VH-64
EFO:0001639	EFO:0002870	\N	"" []	EFO:0002870	"" []	206644	\N	\N	EFO	1	EFO	cancer cell line	VH-64
EFO:0002888	EFO:0002870	\N	"" []	EFO:0002870	"" []	206645	\N	\N	EFO	1	EFO	Homo sapiens cell line	VH-64
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002870	"" []	559753	\N	\N	EFO	2	EFO	cell line	VH-64
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002870	"" []	559754	\N	\N	EFO	2	EFO	cell line	VH-64
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002870	"" []	1141647	\N	\N	EFO	3	EFO	material entity	VH-64
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002870	"" []	2024580	\N	\N	EFO	4	EFO	experimental factor	VH-64
EFO:0002871	\N	\N	"" []	EFO:0002871	"" []	65525	\N	\N	EFO	0	EFO	WB-F344	WB-F344
EFO:0001641	EFO:0002871	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0002871	"" []	206646	\N	\N	EFO	1	EFO	epithelial cell derived cell line	WB-F344
EFO:0002936	EFO:0002871	\N	"Cell lines derived from rats." []	EFO:0002871	"" []	206647	\N	\N	EFO	1	EFO	rat cell line	WB-F344
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002871	"" []	559755	\N	\N	EFO	2	EFO	cell line	WB-F344
EFO:0000322	EFO:0002936	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002871	"" []	559756	\N	\N	EFO	2	EFO	cell line	WB-F344
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002871	"" []	1141648	\N	\N	EFO	3	EFO	material entity	WB-F344
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002871	"" []	2024581	\N	\N	EFO	4	EFO	experimental factor	WB-F344
EFO:0002872	\N	\N	"" []	EFO:0002872	"" []	65526	\N	\N	EFO	0	EFO	WE-68	WE-68
EFO:0001639	EFO:0002872	\N	"" []	EFO:0002872	"" []	206648	\N	\N	EFO	1	EFO	cancer cell line	WE-68
EFO:0002888	EFO:0002872	\N	"" []	EFO:0002872	"" []	206649	\N	\N	EFO	1	EFO	Homo sapiens cell line	WE-68
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002872	"" []	559757	\N	\N	EFO	2	EFO	cell line	WE-68
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002872	"" []	559758	\N	\N	EFO	2	EFO	cell line	WE-68
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002872	"" []	1141649	\N	\N	EFO	3	EFO	material entity	WE-68
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002872	"" []	2024582	\N	\N	EFO	4	EFO	experimental factor	WE-68
EFO:0002873	\N	\N	"" []	EFO:0002873	"" []	65527	\N	\N	EFO	0	EFO	WM793	WM793
BTO:0000849	EFO:0002873	\N	"" []	EFO:0002873	"" []	206650	\N	\N	EFO	1	EFO	melanoma cell line	WM793
EFO:0002888	EFO:0002873	\N	"" []	EFO:0002873	"" []	206651	\N	\N	EFO	1	EFO	Homo sapiens cell line	WM793
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002873	"" []	559759	\N	\N	EFO	2	EFO	cancer cell line	WM793
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002873	"" []	559760	\N	\N	EFO	2	EFO	cell line	WM793
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002873	"" []	1141650	\N	\N	EFO	3	EFO	cell line	WM793
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002873	"" []	2024583	\N	\N	EFO	4	EFO	material entity	WM793
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002873	"" []	2999489	\N	\N	EFO	5	EFO	experimental factor	WM793
EFO:0002874	\N	\N	"" []	EFO:0002874	"" []	65528	\N	\N	EFO	0	EFO	WM793-P1N1	WM793-P1N1
BTO:0000849	EFO:0002874	\N	"" []	EFO:0002874	"" []	206652	\N	\N	EFO	1	EFO	melanoma cell line	WM793-P1N1
EFO:0002888	EFO:0002874	\N	"" []	EFO:0002874	"" []	206653	\N	\N	EFO	1	EFO	Homo sapiens cell line	WM793-P1N1
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002874	"" []	559761	\N	\N	EFO	2	EFO	cancer cell line	WM793-P1N1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002874	"" []	559762	\N	\N	EFO	2	EFO	cell line	WM793-P1N1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002874	"" []	1141652	\N	\N	EFO	3	EFO	cell line	WM793-P1N1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002874	"" []	2024585	\N	\N	EFO	4	EFO	material entity	WM793-P1N1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002874	"" []	2999490	\N	\N	EFO	5	EFO	experimental factor	WM793-P1N1
EFO:0002875	\N	\N	"" []	EFO:0002875	"" []	65529	\N	\N	EFO	0	EFO	WM793-P2N1	WM793-P2N1
BTO:0000849	EFO:0002875	\N	"" []	EFO:0002875	"" []	206654	\N	\N	EFO	1	EFO	melanoma cell line	WM793-P2N1
EFO:0002888	EFO:0002875	\N	"" []	EFO:0002875	"" []	206655	\N	\N	EFO	1	EFO	Homo sapiens cell line	WM793-P2N1
EFO:0001639	BTO:0000849	\N	"" []	EFO:0002875	"" []	559763	\N	\N	EFO	2	EFO	cancer cell line	WM793-P2N1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002875	"" []	559764	\N	\N	EFO	2	EFO	cell line	WM793-P2N1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002875	"" []	1141654	\N	\N	EFO	3	EFO	cell line	WM793-P2N1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002875	"" []	2024587	\N	\N	EFO	4	EFO	material entity	WM793-P2N1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002875	"" []	2999491	\N	\N	EFO	5	EFO	experimental factor	WM793-P2N1
EFO:0002876	\N	\N	"" []	EFO:0002876	"" []	65530	\N	\N	EFO	0	EFO	YCC1	YCC1
EFO:0001639	EFO:0002876	\N	"" []	EFO:0002876	"" []	206656	\N	\N	EFO	1	EFO	cancer cell line	YCC1
EFO:0002888	EFO:0002876	\N	"" []	EFO:0002876	"" []	206657	\N	\N	EFO	1	EFO	Homo sapiens cell line	YCC1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002876	"" []	559765	\N	\N	EFO	2	EFO	cell line	YCC1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002876	"" []	559766	\N	\N	EFO	2	EFO	cell line	YCC1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002876	"" []	1141656	\N	\N	EFO	3	EFO	material entity	YCC1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002876	"" []	2024589	\N	\N	EFO	4	EFO	experimental factor	YCC1
EFO:0002877	\N	\N	"" []	EFO:0002877	"" []	65531	\N	\N	EFO	0	EFO	YCC10	YCC10
EFO:0001639	EFO:0002877	\N	"" []	EFO:0002877	"" []	206658	\N	\N	EFO	1	EFO	cancer cell line	YCC10
EFO:0002888	EFO:0002877	\N	"" []	EFO:0002877	"" []	206659	\N	\N	EFO	1	EFO	Homo sapiens cell line	YCC10
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002877	"" []	559767	\N	\N	EFO	2	EFO	cell line	YCC10
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002877	"" []	559768	\N	\N	EFO	2	EFO	cell line	YCC10
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002877	"" []	1141657	\N	\N	EFO	3	EFO	material entity	YCC10
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002877	"" []	2024590	\N	\N	EFO	4	EFO	experimental factor	YCC10
EFO:0002878	\N	\N	"" []	EFO:0002878	"" []	65532	\N	\N	EFO	0	EFO	YCC11	YCC11
EFO:0001639	EFO:0002878	\N	"" []	EFO:0002878	"" []	206660	\N	\N	EFO	1	EFO	cancer cell line	YCC11
EFO:0002888	EFO:0002878	\N	"" []	EFO:0002878	"" []	206661	\N	\N	EFO	1	EFO	Homo sapiens cell line	YCC11
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002878	"" []	559769	\N	\N	EFO	2	EFO	cell line	YCC11
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002878	"" []	559770	\N	\N	EFO	2	EFO	cell line	YCC11
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002878	"" []	1141658	\N	\N	EFO	3	EFO	material entity	YCC11
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002878	"" []	2024591	\N	\N	EFO	4	EFO	experimental factor	YCC11
EFO:0002879	\N	\N	"" []	EFO:0002879	"" []	65533	\N	\N	EFO	0	EFO	YCC16	YCC16
EFO:0001639	EFO:0002879	\N	"" []	EFO:0002879	"" []	206662	\N	\N	EFO	1	EFO	cancer cell line	YCC16
EFO:0002888	EFO:0002879	\N	"" []	EFO:0002879	"" []	206663	\N	\N	EFO	1	EFO	Homo sapiens cell line	YCC16
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002879	"" []	559771	\N	\N	EFO	2	EFO	cell line	YCC16
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002879	"" []	559772	\N	\N	EFO	2	EFO	cell line	YCC16
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002879	"" []	1141659	\N	\N	EFO	3	EFO	material entity	YCC16
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002879	"" []	2024592	\N	\N	EFO	4	EFO	experimental factor	YCC16
EFO:0002880	\N	\N	"" []	EFO:0002880	"" []	65534	\N	\N	EFO	0	EFO	YCC3	YCC3
EFO:0001639	EFO:0002880	\N	"" []	EFO:0002880	"" []	206664	\N	\N	EFO	1	EFO	cancer cell line	YCC3
EFO:0002888	EFO:0002880	\N	"" []	EFO:0002880	"" []	206665	\N	\N	EFO	1	EFO	Homo sapiens cell line	YCC3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002880	"" []	559773	\N	\N	EFO	2	EFO	cell line	YCC3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002880	"" []	559774	\N	\N	EFO	2	EFO	cell line	YCC3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002880	"" []	1141660	\N	\N	EFO	3	EFO	material entity	YCC3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002880	"" []	2024593	\N	\N	EFO	4	EFO	experimental factor	YCC3
EFO:0002881	\N	\N	"" []	EFO:0002881	"" []	65535	\N	\N	EFO	0	EFO	YCC6	YCC6
EFO:0001639	EFO:0002881	\N	"" []	EFO:0002881	"" []	206666	\N	\N	EFO	1	EFO	cancer cell line	YCC6
EFO:0002888	EFO:0002881	\N	"" []	EFO:0002881	"" []	206667	\N	\N	EFO	1	EFO	Homo sapiens cell line	YCC6
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002881	"" []	559775	\N	\N	EFO	2	EFO	cell line	YCC6
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002881	"" []	559776	\N	\N	EFO	2	EFO	cell line	YCC6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002881	"" []	1141661	\N	\N	EFO	3	EFO	material entity	YCC6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002881	"" []	2024594	\N	\N	EFO	4	EFO	experimental factor	YCC6
EFO:0002882	\N	\N	"" []	EFO:0002882	"" []	65536	\N	\N	EFO	0	EFO	YCC7	YCC7
EFO:0001639	EFO:0002882	\N	"" []	EFO:0002882	"" []	206668	\N	\N	EFO	1	EFO	cancer cell line	YCC7
EFO:0002888	EFO:0002882	\N	"" []	EFO:0002882	"" []	206669	\N	\N	EFO	1	EFO	Homo sapiens cell line	YCC7
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002882	"" []	559777	\N	\N	EFO	2	EFO	cell line	YCC7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002882	"" []	559778	\N	\N	EFO	2	EFO	cell line	YCC7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002882	"" []	1141662	\N	\N	EFO	3	EFO	material entity	YCC7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002882	"" []	2024595	\N	\N	EFO	4	EFO	experimental factor	YCC7
EFO:0002883	\N	\N	"Cell lines that are part of the haemopoietic system." []	EFO:0002883	"Cell lines that are part of the haemopoietic system." []	65537	\N	\N	EFO	0	EFO	haemopoietic system cell line	haemopoietic system cell line
EFO:0000322	EFO:0002883	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002883	"Cell lines that are part of the haemopoietic system." []	206670	\N	\N	EFO	1	EFO	cell line	haemopoietic system cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002883	"Cell lines that are part of the haemopoietic system." []	559779	\N	\N	EFO	2	EFO	material entity	haemopoietic system cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002883	"Cell lines that are part of the haemopoietic system." []	1141663	\N	\N	EFO	3	EFO	experimental factor	haemopoietic system cell line
EFO:0002884	\N	\N	"" []	EFO:0002884	"" []	65538	\N	\N	EFO	0	EFO	mammary gland cell line	mammary gland cell line
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002884	"" []	206671	\N	\N	EFO	1	EFO	cell line	mammary gland cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002884	"" []	559780	\N	\N	EFO	2	EFO	material entity	mammary gland cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002884	"" []	1141664	\N	\N	EFO	3	EFO	experimental factor	mammary gland cell line
EFO:0002885	\N	\N	"" []	EFO:0002885	"" []	65539	\N	\N	EFO	0	EFO	breast cancer cell line	breast cancer cell line
EFO:0001639	EFO:0002885	\N	"" []	EFO:0002885	"" []	206672	\N	\N	EFO	1	EFO	cancer cell line	breast cancer cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002885	"" []	559781	\N	\N	EFO	2	EFO	cell line	breast cancer cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002885	"" []	1141665	\N	\N	EFO	3	EFO	material entity	breast cancer cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002885	"" []	2024596	\N	\N	EFO	4	EFO	experimental factor	breast cancer cell line
EFO:0002886	\N	\N	"Cell lines derived from stem cells." []	EFO:0002886	"Cell lines derived from stem cells." []	65540	\N	\N	EFO	0	EFO	stem cell derived cell line	stem cell derived cell line
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002886	"Cell lines derived from stem cells." []	206673	\N	\N	EFO	1	EFO	cell line	stem cell derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002886	"Cell lines derived from stem cells." []	559782	\N	\N	EFO	2	EFO	material entity	stem cell derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002886	"Cell lines derived from stem cells." []	1141666	\N	\N	EFO	3	EFO	experimental factor	stem cell derived cell line
EFO:0002887	\N	\N	"Cell lines derived from mice." []	EFO:0002887	"Cell lines derived from mice." []	65541	\N	\N	EFO	0	EFO	mouse cell line	mouse cell line
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002887	"Cell lines derived from mice." []	206674	\N	\N	EFO	1	EFO	cell line	mouse cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002887	"Cell lines derived from mice." []	559783	\N	\N	EFO	2	EFO	material entity	mouse cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002887	"Cell lines derived from mice." []	1141667	\N	\N	EFO	3	EFO	experimental factor	mouse cell line
EFO:0002888	\N	\N	"" []	EFO:0002888	"" []	65542	\N	\N	EFO	0	EFO	Homo sapiens cell line	Homo sapiens cell line
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002888	"" []	206675	\N	\N	EFO	1	EFO	cell line	Homo sapiens cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002888	"" []	559784	\N	\N	EFO	2	EFO	material entity	Homo sapiens cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002888	"" []	1141668	\N	\N	EFO	3	EFO	experimental factor	Homo sapiens cell line
EFO:0002890	\N	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	65543	\N	\N	EFO	0	EFO	renal carcinoma	renal carcinoma
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	206676	\N	\N	EFO	1	EFO	carcinoma	renal carcinoma
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	206677	\N	\N	EFO	1	EFO	kidney neoplasm	renal carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	559785	\N	\N	EFO	2	EFO	cancer	renal carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	559786	\N	\N	EFO	2	EFO	epithelial neoplasm	renal carcinoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	559787	\N	\N	EFO	2	EFO	kidney disease	renal carcinoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	559788	\N	\N	EFO	2	EFO	urogenital neoplasm	renal carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	1141669	\N	\N	EFO	3	EFO	neoplasm	renal carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	1141670	\N	\N	EFO	3	EFO	neoplasm	renal carcinoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	1141671	\N	\N	EFO	3	EFO	disease	renal carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	1141672	\N	\N	EFO	3	EFO	neoplasm	renal carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	2024597	\N	\N	EFO	4	EFO	disease	renal carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	3177575	\N	\N	EFO	5	EFO	disposition	renal carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	4132591	\N	\N	EFO	6	EFO	material property	renal carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002890	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	5180929	\N	\N	EFO	7	EFO	experimental factor	renal carcinoma
EFO:0002891	\N	\N	"Any cell line that is derived from the prostate." []	EFO:0002891	"Any cell line that is derived from the prostate." []	65544	\N	\N	EFO	0	EFO	prostate derived cell line	prostate derived cell line
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002891	"Any cell line that is derived from the prostate." []	206678	\N	\N	EFO	1	EFO	cell line	prostate derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002891	"Any cell line that is derived from the prostate." []	559789	\N	\N	EFO	2	EFO	material entity	prostate derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002891	"Any cell line that is derived from the prostate." []	1141673	\N	\N	EFO	3	EFO	experimental factor	prostate derived cell line
EFO:0002892	\N	\N	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	65545	\N	\N	EFO	0	EFO	thyroid carcinoma	thyroid carcinoma
EFO:0000313	EFO:0002892	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	206679	\N	\N	EFO	1	EFO	carcinoma	thyroid carcinoma
EFO:0003841	EFO:0002892	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	206680	\N	\N	EFO	1	EFO	thyroid neoplasm	thyroid carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	559790	\N	\N	EFO	2	EFO	cancer	thyroid carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	559791	\N	\N	EFO	2	EFO	epithelial neoplasm	thyroid carcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	559792	\N	\N	EFO	2	EFO	endocrine neoplasm	thyroid carcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	559793	\N	\N	EFO	2	EFO	thyroid disease	thyroid carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	1141674	\N	\N	EFO	3	EFO	neoplasm	thyroid carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	1141675	\N	\N	EFO	3	EFO	neoplasm	thyroid carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	1141676	\N	\N	EFO	3	EFO	neoplasm	thyroid carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	1141677	\N	\N	EFO	3	EFO	endocrine system disease	thyroid carcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	1141678	\N	\N	EFO	3	EFO	endocrine system disease	thyroid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	2024599	\N	\N	EFO	4	EFO	disease	thyroid carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	2024600	\N	\N	EFO	4	EFO	disease	thyroid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	3177577	\N	\N	EFO	5	EFO	disposition	thyroid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	4387803	\N	\N	EFO	6	EFO	material property	thyroid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002892	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	5408626	\N	\N	EFO	7	EFO	experimental factor	thyroid carcinoma
EFO:0002893	\N	\N	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	EFO:0002893	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	65546	\N	\N	EFO	0	EFO	choriocarcinoma	choriocarcinoma
EFO:0000514	EFO:0002893	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:0002893	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	206681	\N	\N	EFO	1	EFO	germ cell tumor	choriocarcinoma
EFO:0003859	EFO:0002893	\N	"Tumors or cancer of the UTERUS." []	EFO:0002893	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	206682	\N	\N	EFO	1	EFO	uterine neoplasm	choriocarcinoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002893	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	559794	\N	\N	EFO	2	EFO	neoplasm	choriocarcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:0002893	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	559795	\N	\N	EFO	2	EFO	reproductive system disease	choriocarcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0002893	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	559796	\N	\N	EFO	2	EFO	urogenital neoplasm	choriocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002893	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	2024602	\N	\N	EFO	4	EFO	disease	choriocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002893	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	1141680	\N	\N	EFO	3	EFO	disease	choriocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002893	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	1141681	\N	\N	EFO	3	EFO	neoplasm	choriocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002893	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	2999492	\N	\N	EFO	5	EFO	disposition	choriocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002893	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	4132592	\N	\N	EFO	6	EFO	material property	choriocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002893	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	5180930	\N	\N	EFO	7	EFO	experimental factor	choriocarcinoma
EFO:0002894	\N	\N	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	65547	\N	\N	EFO	0	EFO	amelanotic skin melanoma	amelanotic skin melanoma
EFO:0000756	EFO:0002894	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	206683	\N	\N	EFO	1	EFO	melanoma	amelanotic skin melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	559797	\N	\N	EFO	2	EFO	carcinoma	amelanotic skin melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	559798	\N	\N	EFO	2	EFO	skin neoplasm	amelanotic skin melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	1141682	\N	\N	EFO	3	EFO	cancer	amelanotic skin melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	1141683	\N	\N	EFO	3	EFO	epithelial neoplasm	amelanotic skin melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	1141684	\N	\N	EFO	3	EFO	neoplasm	amelanotic skin melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	1141685	\N	\N	EFO	3	EFO	skin disease	amelanotic skin melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	2024603	\N	\N	EFO	4	EFO	neoplasm	amelanotic skin melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	2024604	\N	\N	EFO	4	EFO	neoplasm	amelanotic skin melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	3177579	\N	\N	EFO	5	EFO	disease	amelanotic skin melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	2024606	\N	\N	EFO	4	EFO	disease	amelanotic skin melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	4132593	\N	\N	EFO	6	EFO	disposition	amelanotic skin melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	5180931	\N	\N	EFO	7	EFO	material property	amelanotic skin melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002894	"Amelanotic melanoma is a type of skin cancer in which the cells do not make melanin. They can be pink,red,purple or of normal skin color, hence difficult to recognise. It has an asymmetrical shape, and an irregular faintly pigmented border. Their atypical appearance leads to delay in diagnosis, the prognosis is poor and the rate of recurrence is high." []	5996576	\N	\N	EFO	8	EFO	experimental factor	amelanotic skin melanoma
EFO:0002895	\N	\N	"Well differentiated human gastric adenocarcinoma cell line." []	EFO:0002895	"Well differentiated human gastric adenocarcinoma cell line." []	65548	\N	\N	EFO	0	EFO	MKN7	MKN7
EFO:0001639	EFO:0002895	\N	"" []	EFO:0002895	"Well differentiated human gastric adenocarcinoma cell line." []	206684	\N	\N	EFO	1	EFO	cancer cell line	MKN7
EFO:0002888	EFO:0002895	\N	"" []	EFO:0002895	"Well differentiated human gastric adenocarcinoma cell line." []	206685	\N	\N	EFO	1	EFO	Homo sapiens cell line	MKN7
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002895	"Well differentiated human gastric adenocarcinoma cell line." []	559799	\N	\N	EFO	2	EFO	cell line	MKN7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002895	"Well differentiated human gastric adenocarcinoma cell line." []	559800	\N	\N	EFO	2	EFO	cell line	MKN7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002895	"Well differentiated human gastric adenocarcinoma cell line." []	1141686	\N	\N	EFO	3	EFO	material entity	MKN7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002895	"Well differentiated human gastric adenocarcinoma cell line." []	2024607	\N	\N	EFO	4	EFO	experimental factor	MKN7
EFO:0002896	\N	\N	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	65549	\N	\N	EFO	0	EFO	microRNA profiling by high throughput sequencing	microRNA profiling by high throughput sequencing
EFO:0003737	EFO:0002896	\N	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	206686	\N	\N	EFO	1	EFO	RNA-seq of non coding RNA	microRNA profiling by high throughput sequencing
EFO:0002770	EFO:0003737	\N	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	559801	\N	\N	EFO	2	EFO	transcription profiling by high throughput sequencing	microRNA profiling by high throughput sequencing
EFO:0001032	EFO:0002770	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	1141687	\N	\N	EFO	3	EFO	transcription profiling	microRNA profiling by high throughput sequencing
EFO:0001457	EFO:0002770	\N	"An assay with input RNA" []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	1141688	\N	\N	EFO	3	EFO	RNA assay	microRNA profiling by high throughput sequencing
EFO:0002697	EFO:0002770	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	1141689	\N	\N	EFO	3	EFO	assay by high throughput sequencer	microRNA profiling by high throughput sequencing
EFO:0004120	EFO:0002770	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	1141690	\N	\N	EFO	3	EFO	ArrayExpress experiment type	microRNA profiling by high throughput sequencing
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	2024608	\N	\N	EFO	4	EFO	experimental process	microRNA profiling by high throughput sequencing
EFO:0002772	EFO:0001457	\N	"" []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	2024609	\N	\N	EFO	4	EFO	assay by molecule	microRNA profiling by high throughput sequencing
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	2024610	\N	\N	EFO	4	EFO	assay by sequencer	microRNA profiling by high throughput sequencing
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	2024611	\N	\N	EFO	4	EFO	experimental process	microRNA profiling by high throughput sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	5996577	\N	\N	EFO	8	EFO	planned process	microRNA profiling by high throughput sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	3177582	\N	\N	EFO	5	EFO	assay	microRNA profiling by high throughput sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	3177583	\N	\N	EFO	5	EFO	assay by instrument	microRNA profiling by high throughput sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	6409740	\N	\N	EFO	9	EFO	process	microRNA profiling by high throughput sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	5408630	\N	\N	EFO	7	EFO	experimental process	microRNA profiling by high throughput sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	4387808	\N	\N	EFO	6	EFO	assay	microRNA profiling by high throughput sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002896	"An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome." []	6807626	\N	\N	EFO	10	EFO	experimental factor	microRNA profiling by high throughput sequencing
EFO:0002897	\N	\N	"" []	EFO:0002897	"" []	65550	\N	\N	EFO	0	EFO	gram per kilogram	gram per kilogram
UO:0000051	EFO:0002897	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0002897	"" []	206687	\N	\N	EFO	1	EFO	concentration unit	gram per kilogram
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0002897	"" []	559802	\N	\N	EFO	2	EFO	derived unit	gram per kilogram
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0002897	"" []	1141691	\N	\N	EFO	3	EFO	unit	gram per kilogram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002897	"" []	2024612	\N	\N	EFO	4	EFO	information entity	gram per kilogram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002897	"" []	3177584	\N	\N	EFO	5	EFO	experimental factor	gram per kilogram
EFO:0002898	\N	\N	"" []	EFO:0002898	"" []	65551	\N	\N	EFO	0	EFO	gram per meter squared	gram per meter squared
EFO:0001703	EFO:0002898	\N	"A dervied mass unit is a derived unit which is a measure of the the amount of matter/energy of a physical object, derived from the base unit for mass." []	EFO:0002898	"" []	206688	\N	\N	EFO	1	EFO	derived mass unit	gram per meter squared
UO:0000046	EFO:0001703	\N	"A unit which is derived from base units." []	EFO:0002898	"" []	559803	\N	\N	EFO	2	EFO	derived unit	gram per meter squared
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0002898	"" []	1141692	\N	\N	EFO	3	EFO	unit	gram per meter squared
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002898	"" []	2024613	\N	\N	EFO	4	EFO	information entity	gram per meter squared
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002898	"" []	3177585	\N	\N	EFO	5	EFO	experimental factor	gram per meter squared
EFO:0002899	\N	\N	"" []	EFO:0002899	"" []	65552	\N	\N	EFO	0	EFO	microgram per kilogram	microgram per kilogram
UO:0000051	EFO:0002899	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0002899	"" []	206689	\N	\N	EFO	1	EFO	concentration unit	microgram per kilogram
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0002899	"" []	559804	\N	\N	EFO	2	EFO	derived unit	microgram per kilogram
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0002899	"" []	1141693	\N	\N	EFO	3	EFO	unit	microgram per kilogram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002899	"" []	2024614	\N	\N	EFO	4	EFO	information entity	microgram per kilogram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002899	"" []	3177586	\N	\N	EFO	5	EFO	experimental factor	microgram per kilogram
EFO:0002900	\N	\N	"" []	EFO:0002900	"" []	65553	\N	\N	EFO	0	EFO	micromole per kilogram	micromole per kilogram
UO:0000055	EFO:0002900	\N	"A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." []	EFO:0002900	"" []	206690	\N	\N	EFO	1	EFO	molar mass unit	micromole per kilogram
UO:0000046	UO:0000055	\N	"A unit which is derived from base units." []	EFO:0002900	"" []	559805	\N	\N	EFO	2	EFO	derived unit	micromole per kilogram
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0002900	"" []	1141694	\N	\N	EFO	3	EFO	unit	micromole per kilogram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002900	"" []	2024615	\N	\N	EFO	4	EFO	information entity	micromole per kilogram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002900	"" []	3177587	\N	\N	EFO	5	EFO	experimental factor	micromole per kilogram
EFO:0002901	\N	\N	"" []	EFO:0002901	"" []	65554	\N	\N	EFO	0	EFO	micromole per liter	micromole per liter
UO:0000055	EFO:0002901	\N	"A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." []	EFO:0002901	"" []	206691	\N	\N	EFO	1	EFO	molar mass unit	micromole per liter
UO:0000061	EFO:0002901	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	EFO:0002901	"" []	206692	\N	\N	EFO	1	EFO	unit of molarity	micromole per liter
UO:0000046	UO:0000055	\N	"A unit which is derived from base units." []	EFO:0002901	"" []	559806	\N	\N	EFO	2	EFO	derived unit	micromole per liter
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0002901	"" []	559807	\N	\N	EFO	2	EFO	concentration unit	micromole per liter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0002901	"" []	2024617	\N	\N	EFO	4	EFO	unit	micromole per liter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0002901	"" []	1141696	\N	\N	EFO	3	EFO	derived unit	micromole per liter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002901	"" []	2999493	\N	\N	EFO	5	EFO	information entity	micromole per liter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002901	"" []	4132594	\N	\N	EFO	6	EFO	experimental factor	micromole per liter
EFO:0002902	\N	\N	"" []	EFO:0002902	"" []	65555	\N	\N	EFO	0	EFO	milligram per kilogram	milligram per kilogram
UO:0000061	EFO:0002902	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	EFO:0002902	"" []	206693	\N	\N	EFO	1	EFO	unit of molarity	milligram per kilogram
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0002902	"" []	559808	\N	\N	EFO	2	EFO	concentration unit	milligram per kilogram
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0002902	"" []	1141697	\N	\N	EFO	3	EFO	derived unit	milligram per kilogram
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0002902	"" []	2024618	\N	\N	EFO	4	EFO	unit	milligram per kilogram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002902	"" []	3177589	\N	\N	EFO	5	EFO	information entity	milligram per kilogram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002902	"" []	4387809	\N	\N	EFO	6	EFO	experimental factor	milligram per kilogram
EFO:0002904	\N	\N	"" []	EFO:0002904	"" []	65556	\N	\N	EFO	0	EFO	weight percent	weight percent
UO:0000187	EFO:0002904	\N	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	EFO:0002904	"" []	206694	\N	\N	EFO	1	EFO	percent	weight percent
UO:0000186	UO:0000187	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	EFO:0002904	"" []	559809	\N	\N	EFO	2	EFO	dimensionless unit	weight percent
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	EFO:0002904	"" []	1141698	\N	\N	EFO	3	EFO	derived unit	weight percent
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0002904	"" []	2024619	\N	\N	EFO	4	EFO	unit	weight percent
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002904	"" []	3177590	\N	\N	EFO	5	EFO	information entity	weight percent
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002904	"" []	4387810	\N	\N	EFO	6	EFO	experimental factor	weight percent
EFO:0002907	\N	\N	"A population growth assay is an assay that measures the multiplication or reproduction of cells, resulting in the rapid expansion of a cell population." []	EFO:0002907	"A population growth assay is an assay that measures the multiplication or reproduction of cells, resulting in the rapid expansion of a cell population." []	65557	\N	\N	EFO	0	EFO	population growth assay	population growth assay
OBI:0000070	EFO:0002907	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002907	"A population growth assay is an assay that measures the multiplication or reproduction of cells, resulting in the rapid expansion of a cell population." []	206695	\N	\N	EFO	1	EFO	assay	population growth assay
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002907	"A population growth assay is an assay that measures the multiplication or reproduction of cells, resulting in the rapid expansion of a cell population." []	559810	\N	\N	EFO	2	EFO	experimental process	population growth assay
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002907	"A population growth assay is an assay that measures the multiplication or reproduction of cells, resulting in the rapid expansion of a cell population." []	1141699	\N	\N	EFO	3	EFO	planned process	population growth assay
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002907	"A population growth assay is an assay that measures the multiplication or reproduction of cells, resulting in the rapid expansion of a cell population." []	2024620	\N	\N	EFO	4	EFO	process	population growth assay
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002907	"A population growth assay is an assay that measures the multiplication or reproduction of cells, resulting in the rapid expansion of a cell population." []	3177591	\N	\N	EFO	5	EFO	experimental factor	population growth assay
EFO:0002908	\N	\N	"A motility assay is an assay which measures the controlled movement of a population of cells." []	EFO:0002908	"A motility assay is an assay which measures the controlled movement of a population of cells." []	65558	\N	\N	EFO	0	EFO	motility assay	motility assay
OBI:0000070	EFO:0002908	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002908	"A motility assay is an assay which measures the controlled movement of a population of cells." []	206696	\N	\N	EFO	1	EFO	assay	motility assay
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002908	"A motility assay is an assay which measures the controlled movement of a population of cells." []	559811	\N	\N	EFO	2	EFO	experimental process	motility assay
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002908	"A motility assay is an assay which measures the controlled movement of a population of cells." []	1141700	\N	\N	EFO	3	EFO	planned process	motility assay
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002908	"A motility assay is an assay which measures the controlled movement of a population of cells." []	2024621	\N	\N	EFO	4	EFO	process	motility assay
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002908	"A motility assay is an assay which measures the controlled movement of a population of cells." []	3177592	\N	\N	EFO	5	EFO	experimental factor	motility assay
EFO:0002909	\N	\N	"A microscopy assay is an assay that provides images of molecules at various resolution depending on the technology used." []	EFO:0002909	"A microscopy assay is an assay that provides images of molecules at various resolution depending on the technology used." []	65559	\N	\N	EFO	0	EFO	microscopy assay	microscopy assay
OBI:0000070	EFO:0002909	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0002909	"A microscopy assay is an assay that provides images of molecules at various resolution depending on the technology used." []	206697	\N	\N	EFO	1	EFO	assay	microscopy assay
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002909	"A microscopy assay is an assay that provides images of molecules at various resolution depending on the technology used." []	559812	\N	\N	EFO	2	EFO	experimental process	microscopy assay
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002909	"A microscopy assay is an assay that provides images of molecules at various resolution depending on the technology used." []	1141701	\N	\N	EFO	3	EFO	planned process	microscopy assay
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002909	"A microscopy assay is an assay that provides images of molecules at various resolution depending on the technology used." []	2024622	\N	\N	EFO	4	EFO	process	microscopy assay
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002909	"A microscopy assay is an assay that provides images of molecules at various resolution depending on the technology used." []	3177593	\N	\N	EFO	5	EFO	experimental factor	microscopy assay
EFO:0002910	\N	\N	"ENCODE, full name the Encyclopedia Of DNA Elements, is a public research consortium which has the aim of identifying all functional elements in the human genome sequence." []	EFO:0002910	"ENCODE, full name the Encyclopedia Of DNA Elements, is a public research consortium which has the aim of identifying all functional elements in the human genome sequence." []	65560	\N	\N	EFO	0	EFO	ENCODE	ENCODE
OBI:0000245	EFO:0002910	\N	"An organization is a continuant entity which can play roles,  has members, and has a set of organization rules.  Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members." []	EFO:0002910	"ENCODE, full name the Encyclopedia Of DNA Elements, is a public research consortium which has the aim of identifying all functional elements in the human genome sequence." []	206698	\N	\N	EFO	1	EFO	organization	ENCODE
BFO:0000040	OBI:0000245	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002910	"ENCODE, full name the Encyclopedia Of DNA Elements, is a public research consortium which has the aim of identifying all functional elements in the human genome sequence." []	559813	\N	\N	EFO	2	EFO	material entity	ENCODE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002910	"ENCODE, full name the Encyclopedia Of DNA Elements, is a public research consortium which has the aim of identifying all functional elements in the human genome sequence." []	1141702	\N	\N	EFO	3	EFO	experimental factor	ENCODE
EFO:0002911	\N	\N	"The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals." []	EFO:0002911	"The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals." []	65561	\N	\N	EFO	0	EFO	The International HapMap Project	The International HapMap Project
OBI:0000245	EFO:0002911	\N	"An organization is a continuant entity which can play roles,  has members, and has a set of organization rules.  Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members." []	EFO:0002911	"The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals." []	206699	\N	\N	EFO	1	EFO	organization	The International HapMap Project
BFO:0000040	OBI:0000245	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002911	"The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals." []	559814	\N	\N	EFO	2	EFO	material entity	The International HapMap Project
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002911	"The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals." []	1141703	\N	\N	EFO	3	EFO	experimental factor	The International HapMap Project
EFO:0002912	\N	\N	"" []	EFO:0002912	"" []	65562	\N	\N	EFO	0	EFO	characterization of functional areas of human genome	characterization of functional areas of human genome
EFO:0002694	EFO:0002912	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002912	"" []	206700	\N	\N	EFO	1	EFO	experimental process	characterization of functional areas of human genome
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002912	"" []	559815	\N	\N	EFO	2	EFO	planned process	characterization of functional areas of human genome
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002912	"" []	1141704	\N	\N	EFO	3	EFO	process	characterization of functional areas of human genome
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002912	"" []	2024623	\N	\N	EFO	4	EFO	experimental factor	characterization of functional areas of human genome
EFO:0002913	\N	\N	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	65563	\N	\N	EFO	0	EFO	Cutaneous T-cell lymphoma	Cutaneous T-cell lymphoma
EFO:0004198	EFO:0002913	\N	"Tumors or cancer of the SKIN." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	206701	\N	\N	EFO	1	EFO	skin neoplasm	Cutaneous T-cell lymphoma
EFO:0005952	EFO:0002913	\N	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	206702	\N	\N	EFO	1	EFO	non-Hodgkins lymphoma	Cutaneous T-cell lymphoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	559816	\N	\N	EFO	2	EFO	neoplasm	Cutaneous T-cell lymphoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	559817	\N	\N	EFO	2	EFO	skin disease	Cutaneous T-cell lymphoma
EFO:0000574	EFO:0005952	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	559818	\N	\N	EFO	2	EFO	lymphoma	Cutaneous T-cell lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	4387812	\N	\N	EFO	6	EFO	disease	Cutaneous T-cell lymphoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	1141706	\N	\N	EFO	3	EFO	disease	Cutaneous T-cell lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	1141707	\N	\N	EFO	3	EFO	lymphoid neoplasm	Cutaneous T-cell lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	5028332	\N	\N	EFO	7	EFO	disposition	Cutaneous T-cell lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	2024625	\N	\N	EFO	4	EFO	cancer	Cutaneous T-cell lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	2024626	\N	\N	EFO	4	EFO	hematological system disease	Cutaneous T-cell lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	5817359	\N	\N	EFO	8	EFO	material property	Cutaneous T-cell lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	3177595	\N	\N	EFO	5	EFO	neoplasm	Cutaneous T-cell lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	3177596	\N	\N	EFO	5	EFO	disease	Cutaneous T-cell lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002913	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	6409741	\N	\N	EFO	9	EFO	experimental factor	Cutaneous T-cell lymphoma
EFO:0002914	\N	\N	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	65564	\N	\N	EFO	0	EFO	uterine sarcoma	uterine sarcoma
EFO:0000691	EFO:0002914	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	206703	\N	\N	EFO	1	EFO	sarcoma	uterine sarcoma
EFO:0003859	EFO:0002914	\N	"Tumors or cancer of the UTERUS." []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	206704	\N	\N	EFO	1	EFO	uterine neoplasm	uterine sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	559819	\N	\N	EFO	2	EFO	cancer	uterine sarcoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	559820	\N	\N	EFO	2	EFO	reproductive system disease	uterine sarcoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	559821	\N	\N	EFO	2	EFO	urogenital neoplasm	uterine sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	1141708	\N	\N	EFO	3	EFO	neoplasm	uterine sarcoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	1141709	\N	\N	EFO	3	EFO	disease	uterine sarcoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	1141710	\N	\N	EFO	3	EFO	neoplasm	uterine sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	2024627	\N	\N	EFO	4	EFO	disease	uterine sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	3177597	\N	\N	EFO	5	EFO	disposition	uterine sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	4132595	\N	\N	EFO	6	EFO	material property	uterine sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002914	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	5180932	\N	\N	EFO	7	EFO	experimental factor	uterine sarcoma
EFO:0002916	\N	\N	"Tumors or cancer of the ESOPHAGUS." []	EFO:0002916	"Tumors or cancer of the ESOPHAGUS." []	65565	\N	\N	EFO	0	EFO	esophageal carcinoma	esophageal carcinoma
EFO:0000313	EFO:0002916	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0002916	"Tumors or cancer of the ESOPHAGUS." []	206705	\N	\N	EFO	1	EFO	carcinoma	esophageal carcinoma
EFO:0000405	EFO:0002916	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0002916	"Tumors or cancer of the ESOPHAGUS." []	206706	\N	\N	EFO	1	EFO	digestive system disease	esophageal carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002916	"Tumors or cancer of the ESOPHAGUS." []	559822	\N	\N	EFO	2	EFO	cancer	esophageal carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0002916	"Tumors or cancer of the ESOPHAGUS." []	559823	\N	\N	EFO	2	EFO	epithelial neoplasm	esophageal carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002916	"Tumors or cancer of the ESOPHAGUS." []	559824	\N	\N	EFO	2	EFO	disease	esophageal carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002916	"Tumors or cancer of the ESOPHAGUS." []	1141711	\N	\N	EFO	3	EFO	neoplasm	esophageal carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002916	"Tumors or cancer of the ESOPHAGUS." []	1141712	\N	\N	EFO	3	EFO	neoplasm	esophageal carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002916	"Tumors or cancer of the ESOPHAGUS." []	3177599	\N	\N	EFO	5	EFO	disposition	esophageal carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002916	"Tumors or cancer of the ESOPHAGUS." []	2024629	\N	\N	EFO	4	EFO	disease	esophageal carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002916	"Tumors or cancer of the ESOPHAGUS." []	4066701	\N	\N	EFO	6	EFO	material property	esophageal carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002916	"Tumors or cancer of the ESOPHAGUS." []	5059335	\N	\N	EFO	7	EFO	experimental factor	esophageal carcinoma
EFO:0002917	\N	\N	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	65566	\N	\N	EFO	0	EFO	ovarian serous adenocarcinoma	ovarian serous adenocarcinoma
EFO:0003825	EFO:0002917	\N	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	206707	\N	\N	EFO	1	EFO	serous adenocarcinoma	ovarian serous adenocarcinoma
EFO:0003893	EFO:0002917	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	206708	\N	\N	EFO	1	EFO	ovarian neoplasm	ovarian serous adenocarcinoma
EFO:0000228	EFO:0003825	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	559825	\N	\N	EFO	2	EFO	adenocarcinoma	ovarian serous adenocarcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	559826	\N	\N	EFO	2	EFO	urogenital neoplasm	ovarian serous adenocarcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	559827	\N	\N	EFO	2	EFO	ovarian disease	ovarian serous adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	1141714	\N	\N	EFO	3	EFO	carcinoma	ovarian serous adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	1141715	\N	\N	EFO	3	EFO	neoplasm	ovarian serous adenocarcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	1141716	\N	\N	EFO	3	EFO	reproductive system disease	ovarian serous adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	2024631	\N	\N	EFO	4	EFO	cancer	ovarian serous adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	2024632	\N	\N	EFO	4	EFO	epithelial neoplasm	ovarian serous adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	4387815	\N	\N	EFO	6	EFO	disease	ovarian serous adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	2024634	\N	\N	EFO	4	EFO	disease	ovarian serous adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	3177601	\N	\N	EFO	5	EFO	neoplasm	ovarian serous adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	3177602	\N	\N	EFO	5	EFO	neoplasm	ovarian serous adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	5059336	\N	\N	EFO	7	EFO	disposition	ovarian serous adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	5876528	\N	\N	EFO	8	EFO	material property	ovarian serous adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002917	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	6469820	\N	\N	EFO	9	EFO	experimental factor	ovarian serous adenocarcinoma
EFO:0002918	\N	\N	"A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.\\n\\nA malignant mesenchymal neoplasm arising from skeletal muscle.\\n\\nCancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body." []	EFO:0002918	"A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.\\n\\nA malignant mesenchymal neoplasm arising from skeletal muscle.\\n\\nCancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body." []	65567	\N	\N	EFO	0	EFO	rhabdomyosarcoma	rhabdomyosarcoma
EFO:0000691	EFO:0002918	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0002918	"A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.\\n\\nA malignant mesenchymal neoplasm arising from skeletal muscle.\\n\\nCancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body." []	206709	\N	\N	EFO	1	EFO	sarcoma	rhabdomyosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002918	"A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.\\n\\nA malignant mesenchymal neoplasm arising from skeletal muscle.\\n\\nCancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body." []	559828	\N	\N	EFO	2	EFO	cancer	rhabdomyosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002918	"A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.\\n\\nA malignant mesenchymal neoplasm arising from skeletal muscle.\\n\\nCancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body." []	1141717	\N	\N	EFO	3	EFO	neoplasm	rhabdomyosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002918	"A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.\\n\\nA malignant mesenchymal neoplasm arising from skeletal muscle.\\n\\nCancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body." []	2024635	\N	\N	EFO	4	EFO	disease	rhabdomyosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002918	"A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.\\n\\nA malignant mesenchymal neoplasm arising from skeletal muscle.\\n\\nCancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body." []	3177604	\N	\N	EFO	5	EFO	disposition	rhabdomyosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002918	"A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.\\n\\nA malignant mesenchymal neoplasm arising from skeletal muscle.\\n\\nCancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body." []	4387817	\N	\N	EFO	6	EFO	material property	rhabdomyosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002918	"A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.\\n\\nA malignant mesenchymal neoplasm arising from skeletal muscle.\\n\\nCancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body." []	5408632	\N	\N	EFO	7	EFO	experimental factor	rhabdomyosarcoma
EFO:0002919	\N	\N	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	65568	\N	\N	EFO	0	EFO	uterine carcinoma	uterine carcinoma
EFO:0000313	EFO:0002919	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	206710	\N	\N	EFO	1	EFO	carcinoma	uterine carcinoma
EFO:0003859	EFO:0002919	\N	"Tumors or cancer of the UTERUS." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	206711	\N	\N	EFO	1	EFO	uterine neoplasm	uterine carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	559829	\N	\N	EFO	2	EFO	cancer	uterine carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	559830	\N	\N	EFO	2	EFO	epithelial neoplasm	uterine carcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	559831	\N	\N	EFO	2	EFO	reproductive system disease	uterine carcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	559832	\N	\N	EFO	2	EFO	urogenital neoplasm	uterine carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	1141718	\N	\N	EFO	3	EFO	neoplasm	uterine carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	1141719	\N	\N	EFO	3	EFO	neoplasm	uterine carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	1141720	\N	\N	EFO	3	EFO	disease	uterine carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	1141721	\N	\N	EFO	3	EFO	neoplasm	uterine carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	2024636	\N	\N	EFO	4	EFO	disease	uterine carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	3177605	\N	\N	EFO	5	EFO	disposition	uterine carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	4132596	\N	\N	EFO	6	EFO	material property	uterine carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002919	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	5180933	\N	\N	EFO	7	EFO	experimental factor	uterine carcinoma
EFO:0002920	\N	\N	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	EFO:0002920	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	65569	\N	\N	EFO	0	EFO	vulva sarcoma	vulva sarcoma
EFO:0000512	EFO:0002920	\N	"any diease of the reproductive system" []	EFO:0002920	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	206712	\N	\N	EFO	1	EFO	reproductive system disease	vulva sarcoma
EFO:0000691	EFO:0002920	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0002920	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	206713	\N	\N	EFO	1	EFO	sarcoma	vulva sarcoma
EFO:0003863	EFO:0002920	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0002920	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	206714	\N	\N	EFO	1	EFO	urogenital neoplasm	vulva sarcoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002920	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	559833	\N	\N	EFO	2	EFO	disease	vulva sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002920	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	559834	\N	\N	EFO	2	EFO	cancer	vulva sarcoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002920	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	559835	\N	\N	EFO	2	EFO	neoplasm	vulva sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002920	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	2999495	\N	\N	EFO	5	EFO	disposition	vulva sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002920	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	1141723	\N	\N	EFO	3	EFO	neoplasm	vulva sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002920	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	2024639	\N	\N	EFO	4	EFO	disease	vulva sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002920	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	4066702	\N	\N	EFO	6	EFO	material property	vulva sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002920	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	5059337	\N	\N	EFO	7	EFO	experimental factor	vulva sarcoma
EFO:0002921	\N	\N	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	65570	\N	\N	EFO	0	EFO	vulvar carcinoma	vulvar carcinoma
EFO:0000313	EFO:0002921	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	206715	\N	\N	EFO	1	EFO	carcinoma	vulvar carcinoma
EFO:0000512	EFO:0002921	\N	"any diease of the reproductive system" []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	206716	\N	\N	EFO	1	EFO	reproductive system disease	vulvar carcinoma
EFO:0003863	EFO:0002921	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	206717	\N	\N	EFO	1	EFO	urogenital neoplasm	vulvar carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	559836	\N	\N	EFO	2	EFO	cancer	vulvar carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	559837	\N	\N	EFO	2	EFO	epithelial neoplasm	vulvar carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	559838	\N	\N	EFO	2	EFO	disease	vulvar carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	559839	\N	\N	EFO	2	EFO	neoplasm	vulvar carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	1141725	\N	\N	EFO	3	EFO	neoplasm	vulvar carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	1141726	\N	\N	EFO	3	EFO	neoplasm	vulvar carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	2999497	\N	\N	EFO	5	EFO	disposition	vulvar carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	2024641	\N	\N	EFO	4	EFO	disease	vulvar carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	4066703	\N	\N	EFO	6	EFO	material property	vulvar carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002921	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	5059338	\N	\N	EFO	7	EFO	experimental factor	vulvar carcinoma
EFO:0002922	\N	\N	"" []	EFO:0002922	"" []	65571	\N	\N	EFO	0	EFO	normal cell line	normal cell line
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002922	"" []	206718	\N	\N	EFO	1	EFO	cell line	normal cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002922	"" []	559840	\N	\N	EFO	2	EFO	material entity	normal cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002922	"" []	1141729	\N	\N	EFO	3	EFO	experimental factor	normal cell line
EFO:0002924	\N	\N	"" []	EFO:0002924	"" []	65572	\N	\N	EFO	0	EFO	HapMap haplotype mapping	HapMap haplotype mapping
EFO:0002694	EFO:0002924	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002924	"" []	206719	\N	\N	EFO	1	EFO	experimental process	HapMap haplotype mapping
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002924	"" []	559841	\N	\N	EFO	2	EFO	planned process	HapMap haplotype mapping
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002924	"" []	1141730	\N	\N	EFO	3	EFO	process	HapMap haplotype mapping
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002924	"" []	2024644	\N	\N	EFO	4	EFO	experimental factor	HapMap haplotype mapping
EFO:0002925	\N	\N	"" []	EFO:0002925	"" []	65573	\N	\N	EFO	0	EFO	ENCODE functional genome mapping	ENCODE functional genome mapping
EFO:0002694	EFO:0002925	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002925	"" []	206720	\N	\N	EFO	1	EFO	experimental process	ENCODE functional genome mapping
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002925	"" []	559842	\N	\N	EFO	2	EFO	planned process	ENCODE functional genome mapping
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002925	"" []	1141731	\N	\N	EFO	3	EFO	process	ENCODE functional genome mapping
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002925	"" []	2024645	\N	\N	EFO	4	EFO	experimental factor	ENCODE functional genome mapping
EFO:0002926	\N	\N	"" []	EFO:0002926	"" []	65574	\N	\N	EFO	0	EFO	ENCODE cell line	ENCODE cell line
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002926	"" []	206721	\N	\N	EFO	1	EFO	cell line	ENCODE cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002926	"" []	559843	\N	\N	EFO	2	EFO	material entity	ENCODE cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002926	"" []	1141732	\N	\N	EFO	3	EFO	experimental factor	ENCODE cell line
EFO:0002927	\N	\N	"" []	EFO:0002927	"" []	65575	\N	\N	EFO	0	EFO	International Unit	International Unit
UO:0000000	EFO:0002927	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0002927	"" []	206722	\N	\N	EFO	1	EFO	unit	International Unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002927	"" []	559844	\N	\N	EFO	2	EFO	information entity	International Unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002927	"" []	1141733	\N	\N	EFO	3	EFO	experimental factor	International Unit
EFO:0002928	\N	\N	"A unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one milliliter of system volume." []	EFO:0002928	"A unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one milliliter of system volume." []	65576	\N	\N	EFO	0	EFO	International Unit per milliliter	International Unit per milliliter
UO:0000186	EFO:0002928	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	EFO:0002928	"A unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one milliliter of system volume." []	206723	\N	\N	EFO	1	EFO	dimensionless unit	International Unit per milliliter
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	EFO:0002928	"A unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one milliliter of system volume." []	559845	\N	\N	EFO	2	EFO	derived unit	International Unit per milliliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0002928	"A unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one milliliter of system volume." []	1141734	\N	\N	EFO	3	EFO	unit	International Unit per milliliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002928	"A unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one milliliter of system volume." []	2024646	\N	\N	EFO	4	EFO	information entity	International Unit per milliliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002928	"A unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one milliliter of system volume." []	3177609	\N	\N	EFO	5	EFO	experimental factor	International Unit per milliliter
EFO:0002929	\N	\N	"" []	EFO:0002929	"" []	65577	\N	\N	EFO	0	EFO	microgram per kilogram per day	microgram per kilogram per day
UO:0000186	EFO:0002929	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	EFO:0002929	"" []	206724	\N	\N	EFO	1	EFO	dimensionless unit	microgram per kilogram per day
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	EFO:0002929	"" []	559846	\N	\N	EFO	2	EFO	derived unit	microgram per kilogram per day
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0002929	"" []	1141735	\N	\N	EFO	3	EFO	unit	microgram per kilogram per day
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002929	"" []	2024647	\N	\N	EFO	4	EFO	information entity	microgram per kilogram per day
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002929	"" []	3177610	\N	\N	EFO	5	EFO	experimental factor	microgram per kilogram per day
EFO:0002930	\N	\N	"" []	EFO:0002930	"" []	65578	\N	\N	EFO	0	EFO	milligram per kilogram per day	milligram per kilogram per day
UO:0000186	EFO:0002930	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	EFO:0002930	"" []	206725	\N	\N	EFO	1	EFO	dimensionless unit	milligram per kilogram per day
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	EFO:0002930	"" []	559847	\N	\N	EFO	2	EFO	derived unit	milligram per kilogram per day
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0002930	"" []	1141736	\N	\N	EFO	3	EFO	unit	milligram per kilogram per day
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002930	"" []	2024648	\N	\N	EFO	4	EFO	information entity	milligram per kilogram per day
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002930	"" []	3177611	\N	\N	EFO	5	EFO	experimental factor	milligram per kilogram per day
EFO:0002931	\N	\N	"" []	EFO:0002931	"" []	65579	\N	\N	EFO	0	EFO	unit per kilogram	unit per kilogram
UO:0000186	EFO:0002931	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	EFO:0002931	"" []	206726	\N	\N	EFO	1	EFO	dimensionless unit	unit per kilogram
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	EFO:0002931	"" []	559848	\N	\N	EFO	2	EFO	derived unit	unit per kilogram
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0002931	"" []	1141737	\N	\N	EFO	3	EFO	unit	unit per kilogram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002931	"" []	2024649	\N	\N	EFO	4	EFO	information entity	unit per kilogram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002931	"" []	3177612	\N	\N	EFO	5	EFO	experimental factor	unit per kilogram
EFO:0002933	\N	\N	"Cell lines used in experiments under the HapMap Project" []	EFO:0002933	"Cell lines used in experiments under the HapMap Project" []	65580	\N	\N	EFO	0	EFO	HapMap cell line	HapMap cell line
EFO:0000322	EFO:0002933	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002933	"Cell lines used in experiments under the HapMap Project" []	206727	\N	\N	EFO	1	EFO	cell line	HapMap cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002933	"Cell lines used in experiments under the HapMap Project" []	559849	\N	\N	EFO	2	EFO	material entity	HapMap cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002933	"Cell lines used in experiments under the HapMap Project" []	1141738	\N	\N	EFO	3	EFO	experimental factor	HapMap cell line
EFO:0002934	\N	\N	"" []	EFO:0002934	"" []	65581	\N	\N	EFO	0	EFO	lung cancer cell line	lung cancer cell line
EFO:0001639	EFO:0002934	\N	"" []	EFO:0002934	"" []	206728	\N	\N	EFO	1	EFO	cancer cell line	lung cancer cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002934	"" []	559850	\N	\N	EFO	2	EFO	cell line	lung cancer cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002934	"" []	1141739	\N	\N	EFO	3	EFO	material entity	lung cancer cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002934	"" []	2024650	\N	\N	EFO	4	EFO	experimental factor	lung cancer cell line
EFO:0002935	\N	\N	"" []	EFO:0002935	"" []	65582	\N	\N	EFO	0	EFO	Drosophila melanogaster cell line	Drosophila melanogaster cell line
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002935	"" []	206729	\N	\N	EFO	1	EFO	cell line	Drosophila melanogaster cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002935	"" []	559851	\N	\N	EFO	2	EFO	material entity	Drosophila melanogaster cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002935	"" []	1141740	\N	\N	EFO	3	EFO	experimental factor	Drosophila melanogaster cell line
EFO:0002936	\N	\N	"Cell lines derived from rats." []	EFO:0002936	"Cell lines derived from rats." []	65583	\N	\N	EFO	0	EFO	rat cell line	rat cell line
EFO:0000322	EFO:0002936	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002936	"Cell lines derived from rats." []	206730	\N	\N	EFO	1	EFO	cell line	rat cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002936	"Cell lines derived from rats." []	559852	\N	\N	EFO	2	EFO	material entity	rat cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002936	"Cell lines derived from rats." []	1141741	\N	\N	EFO	3	EFO	experimental factor	rat cell line
EFO:0002937	\N	\N	"" []	EFO:0002937	"" []	65584	\N	\N	EFO	0	EFO	lymphoma or leukaemia cell line	lymphoma or leukaemia cell line
EFO:0001639	EFO:0002937	\N	"" []	EFO:0002937	"" []	206731	\N	\N	EFO	1	EFO	cancer cell line	lymphoma or leukaemia cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002937	"" []	559853	\N	\N	EFO	2	EFO	cell line	lymphoma or leukaemia cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002937	"" []	1141742	\N	\N	EFO	3	EFO	material entity	lymphoma or leukaemia cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002937	"" []	2024651	\N	\N	EFO	4	EFO	experimental factor	lymphoma or leukaemia cell line
EFO:0002938	\N	\N	"" []	EFO:0002938	"" []	65585	\N	\N	EFO	0	EFO	hypopharyngeal carcinoma	hypopharyngeal carcinoma
EFO:0000313	EFO:0002938	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0002938	"" []	206732	\N	\N	EFO	1	EFO	carcinoma	hypopharyngeal carcinoma
EFO:0000405	EFO:0002938	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0002938	"" []	206733	\N	\N	EFO	1	EFO	digestive system disease	hypopharyngeal carcinoma
EFO:0003853	EFO:0002938	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0002938	"" []	206734	\N	\N	EFO	1	EFO	respiratory system neoplasm	hypopharyngeal carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002938	"" []	559854	\N	\N	EFO	2	EFO	cancer	hypopharyngeal carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0002938	"" []	559855	\N	\N	EFO	2	EFO	epithelial neoplasm	hypopharyngeal carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002938	"" []	559856	\N	\N	EFO	2	EFO	disease	hypopharyngeal carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002938	"" []	559857	\N	\N	EFO	2	EFO	neoplasm	hypopharyngeal carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0002938	"" []	559858	\N	\N	EFO	2	EFO	respiratory system disease	hypopharyngeal carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002938	"" []	1141743	\N	\N	EFO	3	EFO	neoplasm	hypopharyngeal carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002938	"" []	1141744	\N	\N	EFO	3	EFO	neoplasm	hypopharyngeal carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002938	"" []	2999499	\N	\N	EFO	5	EFO	disposition	hypopharyngeal carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002938	"" []	2024652	\N	\N	EFO	4	EFO	disease	hypopharyngeal carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002938	"" []	1141747	\N	\N	EFO	3	EFO	disease	hypopharyngeal carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002938	"" []	4066704	\N	\N	EFO	6	EFO	material property	hypopharyngeal carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002938	"" []	5059339	\N	\N	EFO	7	EFO	experimental factor	hypopharyngeal carcinoma
EFO:0002939	\N	\N	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	65586	\N	\N	EFO	0	EFO	medulloblastoma	medulloblastoma
EFO:0000326	EFO:0002939	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	206735	\N	\N	EFO	1	EFO	central nervous system cancer	medulloblastoma
EFO:0003833	EFO:0002939	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	206736	\N	\N	EFO	1	EFO	brain neoplasm	medulloblastoma
EFO:0005784	EFO:0002939	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	206737	\N	\N	EFO	1	EFO	embryonal neoplasm	medulloblastoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	559859	\N	\N	EFO	2	EFO	cancer	medulloblastoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	559860	\N	\N	EFO	2	EFO	nervous system disease	medulloblastoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	559861	\N	\N	EFO	2	EFO	neoplasm	medulloblastoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	559862	\N	\N	EFO	2	EFO	brain disease	medulloblastoma
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	559863	\N	\N	EFO	2	EFO	neoplasm	medulloblastoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	1141748	\N	\N	EFO	3	EFO	neoplasm	medulloblastoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	2024657	\N	\N	EFO	4	EFO	disease	medulloblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	2024655	\N	\N	EFO	4	EFO	disease	medulloblastoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	1141751	\N	\N	EFO	3	EFO	nervous system disease	medulloblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	2999500	\N	\N	EFO	5	EFO	disposition	medulloblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	4132600	\N	\N	EFO	6	EFO	material property	medulloblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002939	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	5180934	\N	\N	EFO	7	EFO	experimental factor	medulloblastoma
EFO:0002940	\N	\N	"" []	EFO:0002940	"" []	65587	\N	\N	EFO	0	EFO	zebrafish cell line	zebrafish cell line
EFO:0000322	EFO:0002940	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002940	"" []	206738	\N	\N	EFO	1	EFO	cell line	zebrafish cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002940	"" []	559864	\N	\N	EFO	2	EFO	material entity	zebrafish cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002940	"" []	1141752	\N	\N	EFO	3	EFO	experimental factor	zebrafish cell line
EFO:0002941	\N	\N	"An assay in which the transcriptome of a biological sample is analysed by serial analysis of gene expression (SAGE)" []	EFO:0002941	"An assay in which the transcriptome of a biological sample is analysed by serial analysis of gene expression (SAGE)" []	65588	\N	\N	EFO	0	EFO	transcription profiling by SAGE	transcription profiling by SAGE
EFO:0001032	EFO:0002941	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0002941	"An assay in which the transcriptome of a biological sample is analysed by serial analysis of gene expression (SAGE)" []	206739	\N	\N	EFO	1	EFO	transcription profiling	transcription profiling by SAGE
EFO:0004120	EFO:0002941	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002941	"An assay in which the transcriptome of a biological sample is analysed by serial analysis of gene expression (SAGE)" []	206740	\N	\N	EFO	1	EFO	ArrayExpress experiment type	transcription profiling by SAGE
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002941	"An assay in which the transcriptome of a biological sample is analysed by serial analysis of gene expression (SAGE)" []	559865	\N	\N	EFO	2	EFO	experimental process	transcription profiling by SAGE
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002941	"An assay in which the transcriptome of a biological sample is analysed by serial analysis of gene expression (SAGE)" []	559866	\N	\N	EFO	2	EFO	experimental process	transcription profiling by SAGE
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002941	"An assay in which the transcriptome of a biological sample is analysed by serial analysis of gene expression (SAGE)" []	1141753	\N	\N	EFO	3	EFO	planned process	transcription profiling by SAGE
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002941	"An assay in which the transcriptome of a biological sample is analysed by serial analysis of gene expression (SAGE)" []	2024658	\N	\N	EFO	4	EFO	process	transcription profiling by SAGE
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002941	"An assay in which the transcriptome of a biological sample is analysed by serial analysis of gene expression (SAGE)" []	3177615	\N	\N	EFO	5	EFO	experimental factor	transcription profiling by SAGE
EFO:0002942	\N	\N	"An assay in which the transcriptome of a biological sample is analysed by Massively Parallel Signature Sequencing (MPSS)" []	EFO:0002942	"An assay in which the transcriptome of a biological sample is analysed by Massively Parallel Signature Sequencing (MPSS)" []	65589	\N	\N	EFO	0	EFO	transcription profiling by MPSS	transcription profiling by MPSS
EFO:0001032	EFO:0002942	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0002942	"An assay in which the transcriptome of a biological sample is analysed by Massively Parallel Signature Sequencing (MPSS)" []	206741	\N	\N	EFO	1	EFO	transcription profiling	transcription profiling by MPSS
EFO:0004120	EFO:0002942	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002942	"An assay in which the transcriptome of a biological sample is analysed by Massively Parallel Signature Sequencing (MPSS)" []	206742	\N	\N	EFO	1	EFO	ArrayExpress experiment type	transcription profiling by MPSS
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002942	"An assay in which the transcriptome of a biological sample is analysed by Massively Parallel Signature Sequencing (MPSS)" []	559867	\N	\N	EFO	2	EFO	experimental process	transcription profiling by MPSS
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002942	"An assay in which the transcriptome of a biological sample is analysed by Massively Parallel Signature Sequencing (MPSS)" []	559868	\N	\N	EFO	2	EFO	experimental process	transcription profiling by MPSS
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002942	"An assay in which the transcriptome of a biological sample is analysed by Massively Parallel Signature Sequencing (MPSS)" []	1141754	\N	\N	EFO	3	EFO	planned process	transcription profiling by MPSS
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002942	"An assay in which the transcriptome of a biological sample is analysed by Massively Parallel Signature Sequencing (MPSS)" []	2024659	\N	\N	EFO	4	EFO	process	transcription profiling by MPSS
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002942	"An assay in which the transcriptome of a biological sample is analysed by Massively Parallel Signature Sequencing (MPSS)" []	3177616	\N	\N	EFO	5	EFO	experimental factor	transcription profiling by MPSS
EFO:0002943	\N	\N	"An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	EFO:0002943	"An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	65590	\N	\N	EFO	0	EFO	transcription profiling by RT-PCR	transcription profiling by RT-PCR
EFO:0001032	EFO:0002943	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0002943	"An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	206743	\N	\N	EFO	1	EFO	transcription profiling	transcription profiling by RT-PCR
EFO:0004120	EFO:0002943	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0002943	"An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	206744	\N	\N	EFO	1	EFO	ArrayExpress experiment type	transcription profiling by RT-PCR
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002943	"An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	559869	\N	\N	EFO	2	EFO	experimental process	transcription profiling by RT-PCR
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0002943	"An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	559870	\N	\N	EFO	2	EFO	experimental process	transcription profiling by RT-PCR
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0002943	"An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	1141755	\N	\N	EFO	3	EFO	planned process	transcription profiling by RT-PCR
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002943	"An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	2024660	\N	\N	EFO	4	EFO	process	transcription profiling by RT-PCR
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002943	"An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	3177617	\N	\N	EFO	5	EFO	experimental factor	transcription profiling by RT-PCR
EFO:0002944	\N	\N	"A protocol description in which a material separation to recover the nucleic acid fraction of an input material is performed" []	EFO:0002944	"A protocol description in which a material separation to recover the nucleic acid fraction of an input material is performed" []	65591	\N	\N	EFO	0	EFO	nucleic acid extraction protocol	nucleic acid extraction protocol
EFO:0000490	EFO:0002944	\N	"The procedure used to obtain something from a mixture or compound by chemical or physical or mechanical means, e.g. DNA/RNA extraction" []	EFO:0002944	"A protocol description in which a material separation to recover the nucleic acid fraction of an input material is performed" []	206745	\N	\N	EFO	1	EFO	extraction protocol	nucleic acid extraction protocol
EFO:0003788	EFO:0002944	\N	"A gene expression protocol is a  protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing." []	EFO:0002944	"A protocol description in which a material separation to recover the nucleic acid fraction of an input material is performed" []	206746	\N	\N	EFO	1	EFO	gene expression protocol	nucleic acid extraction protocol
OBI:0000272	EFO:0000490	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0002944	"A protocol description in which a material separation to recover the nucleic acid fraction of an input material is performed" []	559871	\N	\N	EFO	2	EFO	protocol	nucleic acid extraction protocol
OBI:0000272	EFO:0003788	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0002944	"A protocol description in which a material separation to recover the nucleic acid fraction of an input material is performed" []	559872	\N	\N	EFO	2	EFO	protocol	nucleic acid extraction protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0002944	"A protocol description in which a material separation to recover the nucleic acid fraction of an input material is performed" []	1141756	\N	\N	EFO	3	EFO	information entity	nucleic acid extraction protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002944	"A protocol description in which a material separation to recover the nucleic acid fraction of an input material is performed" []	2024661	\N	\N	EFO	4	EFO	experimental factor	nucleic acid extraction protocol
EFO:0002945	\N	\N	"" []	EFO:0002945	"" []	65592	\N	\N	EFO	0	EFO	familial cardiomyopathy	familial cardiomyopathy
EFO:0000318	EFO:0002945	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:0002945	"" []	206747	\N	\N	EFO	1	EFO	cardiomyopathy	familial cardiomyopathy
EFO:0000508	EFO:0002945	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0002945	"" []	206748	\N	\N	EFO	1	EFO	genetic disorder	familial cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0002945	"" []	559873	\N	\N	EFO	2	EFO	heart disease	familial cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002945	"" []	559874	\N	\N	EFO	2	EFO	disease	familial cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0002945	"" []	1141757	\N	\N	EFO	3	EFO	cardiovascular disease	familial cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002945	"" []	3177618	\N	\N	EFO	5	EFO	disposition	familial cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002945	"" []	2024662	\N	\N	EFO	4	EFO	disease	familial cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002945	"" []	4066705	\N	\N	EFO	6	EFO	material property	familial cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002945	"" []	5059340	\N	\N	EFO	7	EFO	experimental factor	familial cardiomyopathy
EFO:0002947	\N	\N	"The quality of an organism that has successful reproduced." []	EFO:0002947	"The quality of an organism that has successful reproduced." []	65593	\N	\N	EFO	0	EFO	parous	parous
BFO:0000019	EFO:0002947	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0002947	"The quality of an organism that has successful reproduced." []	206749	\N	\N	EFO	1	EFO	quality	parous
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002947	"The quality of an organism that has successful reproduced." []	559875	\N	\N	EFO	2	EFO	material property	parous
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002947	"The quality of an organism that has successful reproduced." []	1141759	\N	\N	EFO	3	EFO	experimental factor	parous
EFO:0002948	\N	\N	"The time period after birth." []	EFO:0002948	"The time period after birth." []	65594	\N	\N	EFO	0	EFO	postnatal	postnatal
EFO:0000399	EFO:0002948	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0002948	"The time period after birth." []	206750	\N	\N	EFO	1	EFO	developmental stage	postnatal
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0002948	"The time period after birth." []	559876	\N	\N	EFO	2	EFO	process	postnatal
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002948	"The time period after birth." []	1141760	\N	\N	EFO	3	EFO	experimental factor	postnatal
EFO:0002950	\N	\N	"The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH." []	EFO:0002950	"The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH." []	65595	\N	\N	EFO	0	EFO	pregnancy	pregnancy
GO:0000003	\N	\N	"The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms." [GOC:go_curators, GOC:isa_complete, GOC:jl, ISBN:0198506732]	EFO:0002950	"The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH." []	194584	\N	goslim_agr,goslim_chembl,goslim_generic,goslim_pir,goslim_plant,gosubset_prok	EFO	0	EFO	reproduction	pregnancy
EFO:0002951	\N	\N	"The quality of an organism that has never been sexually active." []	EFO:0002951	"The quality of an organism that has never been sexually active." []	65596	\N	\N	EFO	0	EFO	virgin	virgin
BFO:0000019	EFO:0002951	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0002951	"The quality of an organism that has never been sexually active." []	206751	\N	\N	EFO	1	EFO	quality	virgin
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002951	"The quality of an organism that has never been sexually active." []	559877	\N	\N	EFO	2	EFO	material property	virgin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002951	"The quality of an organism that has never been sexually active." []	1141761	\N	\N	EFO	3	EFO	experimental factor	virgin
EFO:0002954	\N	\N	"A property of a cell which is no longer pluripotent" []	EFO:0002954	"A property of a cell which is no longer pluripotent" []	65597	\N	\N	EFO	0	EFO	differentiated	differentiated
EFO:0000323	EFO:0002954	\N	"An attribute of a cell e.g. CD8+" []	EFO:0002954	"A property of a cell which is no longer pluripotent" []	206752	\N	\N	EFO	1	EFO	cell property	differentiated
BFO:0000019	EFO:0000323	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0002954	"A property of a cell which is no longer pluripotent" []	559878	\N	\N	EFO	2	EFO	quality	differentiated
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002954	"A property of a cell which is no longer pluripotent" []	1141762	\N	\N	EFO	3	EFO	material property	differentiated
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002954	"A property of a cell which is no longer pluripotent" []	2024664	\N	\N	EFO	4	EFO	experimental factor	differentiated
EFO:0002955	\N	\N	"" []	EFO:0002955	"" []	65598	\N	\N	EFO	0	EFO	reproductive system cell	reproductive system cell
EFO:0000324	EFO:0002955	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002955	"" []	206753	\N	\N	EFO	1	EFO	cell type	reproductive system cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002955	"" []	559879	\N	\N	EFO	2	EFO	material entity	reproductive system cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002955	"" []	1141763	\N	\N	EFO	3	EFO	experimental factor	reproductive system cell
EFO:0002956	\N	\N	"" []	EFO:0002956	"" []	65599	\N	\N	EFO	0	EFO	musculo-skeletal system cell	musculo-skeletal system cell
EFO:0000324	EFO:0002956	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002956	"" []	206754	\N	\N	EFO	1	EFO	cell type	musculo-skeletal system cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002956	"" []	559880	\N	\N	EFO	2	EFO	material entity	musculo-skeletal system cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002956	"" []	1141764	\N	\N	EFO	3	EFO	experimental factor	musculo-skeletal system cell
EFO:0002957	\N	\N	"2102ep is an embryonal cell line" []	EFO:0002957	"2102ep is an embryonal cell line" []	65600	\N	\N	EFO	0	EFO	2102Ep	2102Ep
EFO:0001639	EFO:0002957	\N	"" []	EFO:0002957	"2102ep is an embryonal cell line" []	206755	\N	\N	EFO	1	EFO	cancer cell line	2102Ep
EFO:0002888	EFO:0002957	\N	"" []	EFO:0002957	"2102ep is an embryonal cell line" []	206756	\N	\N	EFO	1	EFO	Homo sapiens cell line	2102Ep
EFO:0003040	EFO:0002957	\N	"" []	EFO:0002957	"2102ep is an embryonal cell line" []	206757	\N	\N	EFO	1	EFO	embryonic cell line	2102Ep
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002957	"2102ep is an embryonal cell line" []	559881	\N	\N	EFO	2	EFO	cell line	2102Ep
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002957	"2102ep is an embryonal cell line" []	559882	\N	\N	EFO	2	EFO	cell line	2102Ep
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002957	"2102ep is an embryonal cell line" []	559883	\N	\N	EFO	2	EFO	cell line	2102Ep
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002957	"2102ep is an embryonal cell line" []	1141765	\N	\N	EFO	3	EFO	material entity	2102Ep
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002957	"2102ep is an embryonal cell line" []	2024665	\N	\N	EFO	4	EFO	experimental factor	2102Ep
EFO:0002958	\N	\N	"experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes." []	EFO:0002958	"experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes." []	65601	\N	\N	EFO	0	EFO	experimental cell	experimental cell
EFO:0000324	EFO:0002958	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002958	"experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes." []	206758	\N	\N	EFO	1	EFO	cell type	experimental cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002958	"experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes." []	559884	\N	\N	EFO	2	EFO	material entity	experimental cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002958	"experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes." []	1141766	\N	\N	EFO	3	EFO	experimental factor	experimental cell
EFO:0002959	\N	\N	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	EFO:0002959	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	65602	\N	\N	EFO	0	EFO	NTera2	NTera2
EFO:0001639	EFO:0002959	\N	"" []	EFO:0002959	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	206759	\N	\N	EFO	1	EFO	cancer cell line	NTera2
EFO:0002888	EFO:0002959	\N	"" []	EFO:0002959	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	206760	\N	\N	EFO	1	EFO	Homo sapiens cell line	NTera2
EFO:0003040	EFO:0002959	\N	"" []	EFO:0002959	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	206761	\N	\N	EFO	1	EFO	embryonic cell line	NTera2
EFO:0005738	EFO:0002959	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0002959	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	206762	\N	\N	EFO	1	EFO	ESC derived cell line	NTera2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002959	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	559885	\N	\N	EFO	2	EFO	cell line	NTera2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002959	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	559886	\N	\N	EFO	2	EFO	cell line	NTera2
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002959	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	559887	\N	\N	EFO	2	EFO	cell line	NTera2
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0002959	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	559888	\N	\N	EFO	2	EFO	stem cell derived cell line	NTera2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002959	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	2024667	\N	\N	EFO	4	EFO	material entity	NTera2
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002959	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	1141768	\N	\N	EFO	3	EFO	cell line	NTera2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002959	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation" []	2999501	\N	\N	EFO	5	EFO	experimental factor	NTera2
EFO:0002960	\N	\N	"A human embryonic stem cell line" []	EFO:0002960	"A human embryonic stem cell line" []	65603	\N	\N	EFO	0	EFO	BG03	BG03
EFO:0002888	EFO:0002960	\N	"" []	EFO:0002960	"A human embryonic stem cell line" []	206763	\N	\N	EFO	1	EFO	Homo sapiens cell line	BG03
EFO:0003040	EFO:0002960	\N	"" []	EFO:0002960	"A human embryonic stem cell line" []	206764	\N	\N	EFO	1	EFO	embryonic cell line	BG03
EFO:0005738	EFO:0002960	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0002960	"A human embryonic stem cell line" []	206765	\N	\N	EFO	1	EFO	ESC derived cell line	BG03
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002960	"A human embryonic stem cell line" []	559889	\N	\N	EFO	2	EFO	cell line	BG03
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002960	"A human embryonic stem cell line" []	559890	\N	\N	EFO	2	EFO	cell line	BG03
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0002960	"A human embryonic stem cell line" []	559891	\N	\N	EFO	2	EFO	stem cell derived cell line	BG03
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002960	"A human embryonic stem cell line" []	2024669	\N	\N	EFO	4	EFO	material entity	BG03
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002960	"A human embryonic stem cell line" []	1141770	\N	\N	EFO	3	EFO	cell line	BG03
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002960	"A human embryonic stem cell line" []	2999502	\N	\N	EFO	5	EFO	experimental factor	BG03
EFO:0002961	\N	\N	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells" []	EFO:0002961	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells" []	65604	\N	\N	EFO	0	EFO	NTera2 derived dopaminergic neuronal like cells	NTera2 derived dopaminergic neuronal like cells
EFO:0001639	EFO:0002961	\N	"" []	EFO:0002961	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells" []	206766	\N	\N	EFO	1	EFO	cancer cell line	NTera2 derived dopaminergic neuronal like cells
EFO:0002888	EFO:0002961	\N	"" []	EFO:0002961	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells" []	206767	\N	\N	EFO	1	EFO	Homo sapiens cell line	NTera2 derived dopaminergic neuronal like cells
EFO:0003040	EFO:0002961	\N	"" []	EFO:0002961	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells" []	206768	\N	\N	EFO	1	EFO	embryonic cell line	NTera2 derived dopaminergic neuronal like cells
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002961	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells" []	559892	\N	\N	EFO	2	EFO	cell line	NTera2 derived dopaminergic neuronal like cells
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002961	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells" []	559893	\N	\N	EFO	2	EFO	cell line	NTera2 derived dopaminergic neuronal like cells
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0002961	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells" []	559894	\N	\N	EFO	2	EFO	cell line	NTera2 derived dopaminergic neuronal like cells
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002961	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells" []	1141771	\N	\N	EFO	3	EFO	material entity	NTera2 derived dopaminergic neuronal like cells
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002961	"A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells" []	2024670	\N	\N	EFO	4	EFO	experimental factor	NTera2 derived dopaminergic neuronal like cells
EFO:0002962	\N	\N	"" []	EFO:0002962	"" []	65605	\N	\N	EFO	0	EFO	animal reproductive system cell	animal reproductive system cell
EFO:0002955	EFO:0002962	\N	"" []	EFO:0002962	"" []	206769	\N	\N	EFO	1	EFO	reproductive system cell	animal reproductive system cell
EFO:0000324	EFO:0002955	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002962	"" []	559895	\N	\N	EFO	2	EFO	cell type	animal reproductive system cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002962	"" []	1141772	\N	\N	EFO	3	EFO	material entity	animal reproductive system cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002962	"" []	2024671	\N	\N	EFO	4	EFO	experimental factor	animal reproductive system cell
EFO:0002963	\N	\N	"" []	EFO:0002963	"" []	65606	\N	\N	EFO	0	EFO	nervous system cell	nervous system cell
EFO:0000324	EFO:0002963	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002963	"" []	206770	\N	\N	EFO	1	EFO	cell type	nervous system cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002963	"" []	559896	\N	\N	EFO	2	EFO	material entity	nervous system cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002963	"" []	1141773	\N	\N	EFO	3	EFO	experimental factor	nervous system cell
EFO:0002966	\N	\N	"" []	EFO:0002966	"" []	65607	\N	\N	EFO	0	EFO	pancreatic cell	pancreatic cell
EFO:0000324	EFO:0002966	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002966	"" []	206771	\N	\N	EFO	1	EFO	cell type	pancreatic cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002966	"" []	559897	\N	\N	EFO	2	EFO	material entity	pancreatic cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002966	"" []	1141774	\N	\N	EFO	3	EFO	experimental factor	pancreatic cell
EFO:0002967	\N	\N	"A property of a cell which is able to differentiate into into one or more differentiated cell types" []	EFO:0002967	"A property of a cell which is able to differentiate into into one or more differentiated cell types" []	65608	\N	\N	EFO	0	EFO	pluripotent	pluripotent
EFO:0000323	EFO:0002967	\N	"An attribute of a cell e.g. CD8+" []	EFO:0002967	"A property of a cell which is able to differentiate into into one or more differentiated cell types" []	206772	\N	\N	EFO	1	EFO	cell property	pluripotent
BFO:0000019	EFO:0000323	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0002967	"A property of a cell which is able to differentiate into into one or more differentiated cell types" []	559898	\N	\N	EFO	2	EFO	quality	pluripotent
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002967	"A property of a cell which is able to differentiate into into one or more differentiated cell types" []	1141775	\N	\N	EFO	3	EFO	material property	pluripotent
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002967	"A property of a cell which is able to differentiate into into one or more differentiated cell types" []	2024672	\N	\N	EFO	4	EFO	experimental factor	pluripotent
EFO:0002968	\N	\N	"neural stem cells experimentally derived from ES cells" []	EFO:0002968	"neural stem cells experimentally derived from ES cells" []	65609	\N	\N	EFO	0	EFO	embryonic stem cell derived neuronal stem cell	embryonic stem cell derived neuronal stem cell
CL:0000034	EFO:0002968	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	EFO:0002968	"neural stem cells experimentally derived from ES cells" []	206773	\N	\N	EFO	1	EFO	stem cell	embryonic stem cell derived neuronal stem cell
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0002968	"neural stem cells experimentally derived from ES cells" []	559899	\N	\N	EFO	2	EFO	cell type	embryonic stem cell derived neuronal stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0002968	"neural stem cells experimentally derived from ES cells" []	1141776	\N	\N	EFO	3	EFO	material entity	embryonic stem cell derived neuronal stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002968	"neural stem cells experimentally derived from ES cells" []	2024673	\N	\N	EFO	4	EFO	experimental factor	embryonic stem cell derived neuronal stem cell
EFO:0002970	\N	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:0002970	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	65610	\N	\N	EFO	0	EFO	muscular disease	muscular disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:0002970	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	206774	\N	\N	EFO	1	EFO	skeletal system disease	muscular disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0002970	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	559900	\N	\N	EFO	2	EFO	disease	muscular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0002970	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	1141777	\N	\N	EFO	3	EFO	disposition	muscular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0002970	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	2024674	\N	\N	EFO	4	EFO	material property	muscular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0002970	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	3177620	\N	\N	EFO	5	EFO	experimental factor	muscular disease
EFO:0002971	\N	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002971	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	65611	\N	\N	EFO	0	EFO	ILSXISS#/Tej	ILSXISS#/Tej
NCBITaxon:10090	\N	\N	"" []	EFO:0002971	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	194585	\N	\N	EFO	0	EFO	Mus musculus	ILSXISS#/Tej
EFO:0002972	\N	\N	"" []	EFO:0002972	"" []	65612	\N	\N	EFO	0	EFO	ILSXISS3/TejJ	ILSXISS3/TejJ
EFO:0002971	EFO:0002972	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002972	"" []	206775	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS3/TejJ
EFO:0002973	\N	\N	"" []	EFO:0002973	"" []	65613	\N	\N	EFO	0	EFO	ILSXISS7/TejJ	ILSXISS7/TejJ
EFO:0002971	EFO:0002973	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002973	"" []	206776	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS7/TejJ
EFO:0002974	\N	\N	"" []	EFO:0002974	"" []	65614	\N	\N	EFO	0	EFO	ILSXISS13/TejJ	ILSXISS13/TejJ
EFO:0002971	EFO:0002974	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002974	"" []	206777	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS13/TejJ
EFO:0002975	\N	\N	"" []	EFO:0002975	"" []	65615	\N	\N	EFO	0	EFO	ILSXISS14/TejJ	ILSXISS14/TejJ
EFO:0002971	EFO:0002975	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002975	"" []	206778	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS14/TejJ
EFO:0002976	\N	\N	"" []	EFO:0002976	"" []	65616	\N	\N	EFO	0	EFO	ILSXISS16/TejJ	ILSXISS16/TejJ
EFO:0002971	EFO:0002976	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002976	"" []	206779	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS16/TejJ
EFO:0002977	\N	\N	"" []	EFO:0002977	"" []	65617	\N	\N	EFO	0	EFO	ILSXISS19/TejJ	ILSXISS19/TejJ
EFO:0002971	EFO:0002977	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002977	"" []	206780	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS19/TejJ
EFO:0002978	\N	\N	"" []	EFO:0002978	"" []	65618	\N	\N	EFO	0	EFO	ILSXISS22/TejJ	ILSXISS22/TejJ
EFO:0002971	EFO:0002978	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002978	"" []	206781	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS22/TejJ
EFO:0002979	\N	\N	"" []	EFO:0002979	"" []	65619	\N	\N	EFO	0	EFO	ILSXISS23/TejJ	ILSXISS23/TejJ
EFO:0002971	EFO:0002979	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002979	"" []	206782	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS23/TejJ
EFO:0002980	\N	\N	"" []	EFO:0002980	"" []	65620	\N	\N	EFO	0	EFO	ILSXISS24/TejJ	ILSXISS24/TejJ
EFO:0002971	EFO:0002980	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002980	"" []	206783	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS24/TejJ
EFO:0002981	\N	\N	"" []	EFO:0002981	"" []	65621	\N	\N	EFO	0	EFO	ILSXISS25/TejJ	ILSXISS25/TejJ
EFO:0002971	EFO:0002981	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002981	"" []	206784	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS25/TejJ
EFO:0002982	\N	\N	"" []	EFO:0002982	"" []	65622	\N	\N	EFO	0	EFO	ILSXISS26/TejJ	ILSXISS26/TejJ
EFO:0002971	EFO:0002982	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002982	"" []	206785	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS26/TejJ
EFO:0002983	\N	\N	"" []	EFO:0002983	"" []	65623	\N	\N	EFO	0	EFO	ILSXISS41/TejJ	ILSXISS41/TejJ
EFO:0002971	EFO:0002983	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002983	"" []	206786	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS41/TejJ
EFO:0002984	\N	\N	"" []	EFO:0002984	"" []	65624	\N	\N	EFO	0	EFO	ILSXISS48/TejJ	ILSXISS48/TejJ
EFO:0002971	EFO:0002984	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002984	"" []	206787	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS48/TejJ
EFO:0002985	\N	\N	"" []	EFO:0002985	"" []	65625	\N	\N	EFO	0	EFO	ILSXISS49/TejJ	ILSXISS49/TejJ
EFO:0002971	EFO:0002985	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002985	"" []	206788	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS49/TejJ
EFO:0002986	\N	\N	"" []	EFO:0002986	"" []	65626	\N	\N	EFO	0	EFO	ILSXISS50/TejJ	ILSXISS50/TejJ
EFO:0002971	EFO:0002986	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002986	"" []	206789	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS50/TejJ
EFO:0002987	\N	\N	"" []	EFO:0002987	"" []	65627	\N	\N	EFO	0	EFO	ILSXISS51/TejJ	ILSXISS51/TejJ
EFO:0002971	EFO:0002987	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002987	"" []	206790	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS51/TejJ
EFO:0002988	\N	\N	"" []	EFO:0002988	"" []	65628	\N	\N	EFO	0	EFO	ILSXISS52/TejJ	ILSXISS52/TejJ
EFO:0002971	EFO:0002988	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002988	"" []	206791	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS52/TejJ
EFO:0002989	\N	\N	"" []	EFO:0002989	"" []	65629	\N	\N	EFO	0	EFO	ILSXISS56/TejJ	ILSXISS56/TejJ
EFO:0002971	EFO:0002989	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002989	"" []	206792	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS56/TejJ
EFO:0002990	\N	\N	"" []	EFO:0002990	"" []	65630	\N	\N	EFO	0	EFO	ILSXISS62/TejJ	ILSXISS62/TejJ
EFO:0002971	EFO:0002990	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002990	"" []	206793	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS62/TejJ
EFO:0002991	\N	\N	"" []	EFO:0002991	"" []	65631	\N	\N	EFO	0	EFO	ILSXISS66/TejJ	ILSXISS66/TejJ
EFO:0002971	EFO:0002991	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002991	"" []	206794	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS66/TejJ
EFO:0002992	\N	\N	"" []	EFO:0002992	"" []	65632	\N	\N	EFO	0	EFO	ILSXISS79/TejJ	ILSXISS79/TejJ
EFO:0002971	EFO:0002992	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002992	"" []	206795	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS79/TejJ
EFO:0002993	\N	\N	"" []	EFO:0002993	"" []	65633	\N	\N	EFO	0	EFO	ILSXISS80/TejJ	ILSXISS80/TejJ
EFO:0002971	EFO:0002993	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002993	"" []	206796	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS80/TejJ
EFO:0002994	\N	\N	"" []	EFO:0002994	"" []	65634	\N	\N	EFO	0	EFO	ILSXISS84/TejJ	ILSXISS84/TejJ
EFO:0002971	EFO:0002994	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002994	"" []	206797	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS84/TejJ
EFO:0002995	\N	\N	"" []	EFO:0002995	"" []	65635	\N	\N	EFO	0	EFO	ILSXISS86/TejJ	ILSXISS86/TejJ
EFO:0002971	EFO:0002995	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002995	"" []	206798	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS86/TejJ
EFO:0002996	\N	\N	"" []	EFO:0002996	"" []	65636	\N	\N	EFO	0	EFO	ILSXISS89/TejJ	ILSXISS89/TejJ
EFO:0002971	EFO:0002996	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002996	"" []	206799	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS89/TejJ
EFO:0002997	\N	\N	"" []	EFO:0002997	"" []	65637	\N	\N	EFO	0	EFO	ILSXISS90/TejJ	ILSXISS90/TejJ
EFO:0002971	EFO:0002997	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002997	"" []	206800	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS90/TejJ
EFO:0002998	\N	\N	"" []	EFO:0002998	"" []	65638	\N	\N	EFO	0	EFO	ILSXISS92/TejJ	ILSXISS92/TejJ
EFO:0002971	EFO:0002998	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002998	"" []	206801	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS92/TejJ
EFO:0002999	\N	\N	"" []	EFO:0002999	"" []	65639	\N	\N	EFO	0	EFO	ILSXISS94/TejJ	ILSXISS94/TejJ
EFO:0002971	EFO:0002999	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0002999	"" []	206802	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS94/TejJ
EFO:0003000	\N	\N	"" []	EFO:0003000	"" []	65640	\N	\N	EFO	0	EFO	ILSXISS97/TejJ	ILSXISS97/TejJ
EFO:0002971	EFO:0003000	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003000	"" []	206803	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS97/TejJ
EFO:0003001	\N	\N	"" []	EFO:0003001	"" []	65641	\N	\N	EFO	0	EFO	ILSXISS98/TejJ	ILSXISS98/TejJ
EFO:0002971	EFO:0003001	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003001	"" []	206804	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS98/TejJ
EFO:0003002	\N	\N	"" []	EFO:0003002	"" []	65642	\N	\N	EFO	0	EFO	ILSXISS99/TejJ	ILSXISS99/TejJ
EFO:0002971	EFO:0003002	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003002	"" []	206805	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS99/TejJ
EFO:0003003	\N	\N	"" []	EFO:0003003	"" []	65643	\N	\N	EFO	0	EFO	ILSXISS100/TejJ	ILSXISS100/TejJ
EFO:0002971	EFO:0003003	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003003	"" []	206806	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS100/TejJ
EFO:0003004	\N	\N	"" []	EFO:0003004	"" []	65644	\N	\N	EFO	0	EFO	ILSXISS103/TejJ	ILSXISS103/TejJ
EFO:0002971	EFO:0003004	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003004	"" []	206807	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS103/TejJ
EFO:0003005	\N	\N	"" []	EFO:0003005	"" []	65645	\N	\N	EFO	0	EFO	ILSXISS107/TejJ	ILSXISS107/TejJ
EFO:0002971	EFO:0003005	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003005	"" []	206808	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS107/TejJ
EFO:0003006	\N	\N	"" []	EFO:0003006	"" []	65646	\N	\N	EFO	0	EFO	ILSXISS110/TejJ	ILSXISS110/TejJ
EFO:0002971	EFO:0003006	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003006	"" []	206809	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS110/TejJ
EFO:0003007	\N	\N	"" []	EFO:0003007	"" []	65647	\N	\N	EFO	0	EFO	ILSXISS112/TejJ	ILSXISS112/TejJ
EFO:0002971	EFO:0003007	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003007	"" []	206810	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS112/TejJ
EFO:0003008	\N	\N	"" []	EFO:0003008	"" []	65648	\N	\N	EFO	0	EFO	ILSXISS114/TejJ	ILSXISS114/TejJ
EFO:0002971	EFO:0003008	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003008	"" []	206811	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS114/TejJ
EFO:0003009	\N	\N	"" []	EFO:0003009	"" []	65649	\N	\N	EFO	0	EFO	ILSXISS115/TejJ	ILSXISS115/TejJ
EFO:0002971	EFO:0003009	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003009	"" []	206812	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS115/TejJ
EFO:0003010	\N	\N	"" []	EFO:0003010	"" []	65650	\N	\N	EFO	0	EFO	ILSXISS117/TejJ	ILSXISS117/TejJ
EFO:0002971	EFO:0003010	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003010	"" []	206813	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS117/TejJ
EFO:0003011	\N	\N	"" []	EFO:0003011	"" []	65651	\N	\N	EFO	0	EFO	ILSXISS122/TejJ	ILSXISS122/TejJ
EFO:0002971	EFO:0003011	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003011	"" []	206814	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS122/TejJ
EFO:0003012	\N	\N	"" []	EFO:0003012	"" []	65652	\N	\N	EFO	0	EFO	ILSXISS123/TejJ	ILSXISS123/TejJ
EFO:0002971	EFO:0003012	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003012	"" []	206815	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS123/TejJ
EFO:0003013	\N	\N	"" []	EFO:0003013	"" []	65653	\N	\N	EFO	0	EFO	Mus musculus subspecies	Mus musculus subspecies
NCBITaxon:10090	\N	\N	"" []	EFO:0003013	"" []	194586	\N	\N	EFO	0	EFO	Mus musculus	Mus musculus subspecies
EFO:0003014	\N	\N	"breast fibrocystic disease is a benign mammary displasia characterised by breast discomfort and 'lumpiness'" []	EFO:0003014	"breast fibrocystic disease is a benign mammary displasia characterised by breast discomfort and 'lumpiness'" []	65654	\N	\N	EFO	0	EFO	breast fibrocystic disease	breast fibrocystic disease
EFO:0003869	EFO:0003014	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:0003014	"breast fibrocystic disease is a benign mammary displasia characterised by breast discomfort and 'lumpiness'" []	206816	\N	\N	EFO	1	EFO	breast neoplasm	breast fibrocystic disease
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003014	"breast fibrocystic disease is a benign mammary displasia characterised by breast discomfort and 'lumpiness'" []	559901	\N	\N	EFO	2	EFO	neoplasm	breast fibrocystic disease
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003014	"breast fibrocystic disease is a benign mammary displasia characterised by breast discomfort and 'lumpiness'" []	1141778	\N	\N	EFO	3	EFO	disease	breast fibrocystic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003014	"breast fibrocystic disease is a benign mammary displasia characterised by breast discomfort and 'lumpiness'" []	2024675	\N	\N	EFO	4	EFO	disposition	breast fibrocystic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003014	"breast fibrocystic disease is a benign mammary displasia characterised by breast discomfort and 'lumpiness'" []	3177621	\N	\N	EFO	5	EFO	material property	breast fibrocystic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003014	"breast fibrocystic disease is a benign mammary displasia characterised by breast discomfort and 'lumpiness'" []	4387820	\N	\N	EFO	6	EFO	experimental factor	breast fibrocystic disease
EFO:0003015	\N	\N	"Agressive behaviour is the process of engaging on hostile, affective, or retaliatory aggression and instrumental, predatory, or goal-oriented aggression towards other individuals." []	EFO:0003015	"Agressive behaviour is the process of engaging on hostile, affective, or retaliatory aggression and instrumental, predatory, or goal-oriented aggression towards other individuals." []	65655	\N	\N	EFO	0	EFO	aggressive behavior	aggressive behavior
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0003015	"Agressive behaviour is the process of engaging on hostile, affective, or retaliatory aggression and instrumental, predatory, or goal-oriented aggression towards other individuals." []	194587	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	aggressive behavior
EFO:0003016	\N	\N	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	65656	\N	\N	EFO	0	EFO	collecting duct carcinoma	collecting duct carcinoma
EFO:0000681	EFO:0003016	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	206817	\N	\N	EFO	1	EFO	renal cell carcinoma	collecting duct carcinoma
EFO:0002890	EFO:0000681	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	559902	\N	\N	EFO	2	EFO	renal carcinoma	collecting duct carcinoma
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	1141779	\N	\N	EFO	3	EFO	carcinoma	collecting duct carcinoma
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	1141780	\N	\N	EFO	3	EFO	kidney neoplasm	collecting duct carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	2024676	\N	\N	EFO	4	EFO	cancer	collecting duct carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	2024677	\N	\N	EFO	4	EFO	epithelial neoplasm	collecting duct carcinoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	2024678	\N	\N	EFO	4	EFO	kidney disease	collecting duct carcinoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	2024679	\N	\N	EFO	4	EFO	urogenital neoplasm	collecting duct carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	3177622	\N	\N	EFO	5	EFO	neoplasm	collecting duct carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	3177623	\N	\N	EFO	5	EFO	neoplasm	collecting duct carcinoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	3177624	\N	\N	EFO	5	EFO	disease	collecting duct carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	3177625	\N	\N	EFO	5	EFO	neoplasm	collecting duct carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	4387821	\N	\N	EFO	6	EFO	disease	collecting duct carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	5408633	\N	\N	EFO	7	EFO	disposition	collecting duct carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	5996578	\N	\N	EFO	8	EFO	material property	collecting duct carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003016	"Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." []	6550366	\N	\N	EFO	9	EFO	experimental factor	collecting duct carcinoma
EFO:0003017	\N	\N	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	65657	\N	\N	EFO	0	EFO	transitional cell carcinoma of kidney	transitional cell carcinoma of kidney
EFO:0002890	EFO:0003017	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	206818	\N	\N	EFO	1	EFO	renal carcinoma	transitional cell carcinoma of kidney
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	559903	\N	\N	EFO	2	EFO	carcinoma	transitional cell carcinoma of kidney
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	559904	\N	\N	EFO	2	EFO	kidney neoplasm	transitional cell carcinoma of kidney
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	1141781	\N	\N	EFO	3	EFO	cancer	transitional cell carcinoma of kidney
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	1141782	\N	\N	EFO	3	EFO	epithelial neoplasm	transitional cell carcinoma of kidney
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	1141783	\N	\N	EFO	3	EFO	kidney disease	transitional cell carcinoma of kidney
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	1141784	\N	\N	EFO	3	EFO	urogenital neoplasm	transitional cell carcinoma of kidney
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	2024680	\N	\N	EFO	4	EFO	neoplasm	transitional cell carcinoma of kidney
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	2024681	\N	\N	EFO	4	EFO	neoplasm	transitional cell carcinoma of kidney
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	2024682	\N	\N	EFO	4	EFO	disease	transitional cell carcinoma of kidney
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	2024683	\N	\N	EFO	4	EFO	neoplasm	transitional cell carcinoma of kidney
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	3177626	\N	\N	EFO	5	EFO	disease	transitional cell carcinoma of kidney
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	4387823	\N	\N	EFO	6	EFO	disposition	transitional cell carcinoma of kidney
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	5180935	\N	\N	EFO	7	EFO	material property	transitional cell carcinoma of kidney
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003017	"Of every 100 cancers in the kidney, about 5 to 10 are transitional cell carcinomas (TCCs), also known as urothelial carcinomas.Transitional cell carcinomas dont start in the kidney itself, but in the lining of the renal pelvis (where the urine goes before it enters the ureter). This lining is made up of cells called transitional cells that look like the cells that line the ureters and bladder. Cancers that develop from these cells look like other urothelial carcinomas, such as bladder cancer, under the microscope. Like bladder cancer, these cancers are often linked to cigarette smoking and being exposed to certain cancer-causing chemicals in the workplace.\\n\\nPeople with TCC often have the same signs and symptoms as people with renal cell cancer ? blood in the urine and, sometimes, back pain.\\n\\nThese cancers are usually treated by surgically removing the whole kidney and the ureter, as well as the portion of the bladder where the ureter attaches. Smaller, less aggressive cancers can sometimes be treated with less surgery. Chemotherapy (chemo) is sometimes given before or after surgery, depending on how much cancer is found. The chemo given is the same as that used for bladder cancer. Its important to talk with your doctor to be aware of your options and the benefits and risks of each treatment. " []	5996579	\N	\N	EFO	8	EFO	experimental factor	transitional cell carcinoma of kidney
EFO:0003018	\N	\N	"" []	EFO:0003018	"" []	65658	\N	\N	EFO	0	EFO	ILSXISS28/TejJ	ILSXISS28/TejJ
EFO:0002971	EFO:0003018	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003018	"" []	206819	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS28/TejJ
EFO:0003019	\N	\N	"" []	EFO:0003019	"" []	65659	\N	\N	EFO	0	EFO	ILSXISS46/TejJ	ILSXISS46/TejJ
EFO:0002971	EFO:0003019	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003019	"" []	206820	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS46/TejJ
EFO:0003020	\N	\N	"" []	EFO:0003020	"" []	65660	\N	\N	EFO	0	EFO	ILSXISS60/TejJ	ILSXISS60/TejJ
EFO:0002971	EFO:0003020	\N	"The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight)." []	EFO:0003020	"" []	206821	\N	\N	EFO	1	EFO	ILSXISS#/Tej	ILSXISS60/TejJ
EFO:0003021	\N	\N	"" []	EFO:0003021	"" []	65661	\N	\N	EFO	0	EFO	interferon alpha	interferon alpha
EFO:0003786	EFO:0003021	\N	"" []	EFO:0003021	"" []	206822	\N	\N	EFO	1	EFO	cytokine	interferon alpha
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003021	"" []	559905	\N	\N	EFO	2	EFO	protein	interferon alpha
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003021	"" []	1141785	\N	\N	EFO	3	EFO	chemical compound	interferon alpha
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003021	"" []	2024684	\N	\N	EFO	4	EFO	chemical entity	interferon alpha
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003021	"" []	3177628	\N	\N	EFO	5	EFO	material entity	interferon alpha
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003021	"" []	4387825	\N	\N	EFO	6	EFO	experimental factor	interferon alpha
EFO:0003022	\N	\N	"" []	EFO:0003022	"" []	65662	\N	\N	EFO	0	EFO	interferon alpha 2a	interferon alpha 2a
EFO:0003786	EFO:0003022	\N	"" []	EFO:0003022	"" []	206823	\N	\N	EFO	1	EFO	cytokine	interferon alpha 2a
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003022	"" []	559906	\N	\N	EFO	2	EFO	protein	interferon alpha 2a
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003022	"" []	1141786	\N	\N	EFO	3	EFO	chemical compound	interferon alpha 2a
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003022	"" []	2024685	\N	\N	EFO	4	EFO	chemical entity	interferon alpha 2a
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003022	"" []	3177629	\N	\N	EFO	5	EFO	material entity	interferon alpha 2a
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003022	"" []	4387826	\N	\N	EFO	6	EFO	experimental factor	interferon alpha 2a
EFO:0003023	\N	\N	"" []	EFO:0003023	"" []	65663	\N	\N	EFO	0	EFO	interferon beta	interferon beta
EFO:0003786	EFO:0003023	\N	"" []	EFO:0003023	"" []	206824	\N	\N	EFO	1	EFO	cytokine	interferon beta
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003023	"" []	559907	\N	\N	EFO	2	EFO	protein	interferon beta
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003023	"" []	1141787	\N	\N	EFO	3	EFO	chemical compound	interferon beta
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003023	"" []	2024686	\N	\N	EFO	4	EFO	chemical entity	interferon beta
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003023	"" []	3177630	\N	\N	EFO	5	EFO	material entity	interferon beta
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003023	"" []	4387827	\N	\N	EFO	6	EFO	experimental factor	interferon beta
EFO:0003024	\N	\N	"" []	EFO:0003024	"" []	65664	\N	\N	EFO	0	EFO	interferon gamma	interferon gamma
EFO:0003786	EFO:0003024	\N	"" []	EFO:0003024	"" []	206825	\N	\N	EFO	1	EFO	cytokine	interferon gamma
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003024	"" []	559908	\N	\N	EFO	2	EFO	protein	interferon gamma
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003024	"" []	1141788	\N	\N	EFO	3	EFO	chemical compound	interferon gamma
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003024	"" []	2024687	\N	\N	EFO	4	EFO	chemical entity	interferon gamma
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003024	"" []	3177631	\N	\N	EFO	5	EFO	material entity	interferon gamma
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003024	"" []	4387828	\N	\N	EFO	6	EFO	experimental factor	interferon gamma
EFO:0003025	\N	\N	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	65665	\N	\N	EFO	0	EFO	acute megakaryoblastic leukaemia	acute megakaryoblastic leukaemia
EFO:0000222	EFO:0003025	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	206826	\N	\N	EFO	1	EFO	acute myeloid leukemia	acute megakaryoblastic leukaemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	559909	\N	\N	EFO	2	EFO	myeloid neoplasm	acute megakaryoblastic leukaemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	559910	\N	\N	EFO	2	EFO	Acute Leukemia	acute megakaryoblastic leukaemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	1141789	\N	\N	EFO	3	EFO	lymphoid neoplasm	acute megakaryoblastic leukaemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	1141790	\N	\N	EFO	3	EFO	leukemia	acute megakaryoblastic leukaemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	3177634	\N	\N	EFO	5	EFO	cancer	acute megakaryoblastic leukaemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	3177635	\N	\N	EFO	5	EFO	hematological system disease	acute megakaryoblastic leukaemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	2024690	\N	\N	EFO	4	EFO	lymphoid neoplasm	acute megakaryoblastic leukaemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	4132601	\N	\N	EFO	6	EFO	neoplasm	acute megakaryoblastic leukaemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	4132602	\N	\N	EFO	6	EFO	disease	acute megakaryoblastic leukaemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	5180936	\N	\N	EFO	7	EFO	disease	acute megakaryoblastic leukaemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	5996580	\N	\N	EFO	8	EFO	disposition	acute megakaryoblastic leukaemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	6469821	\N	\N	EFO	9	EFO	material property	acute megakaryoblastic leukaemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003025	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	6848217	\N	\N	EFO	10	EFO	experimental factor	acute megakaryoblastic leukaemia
EFO:0003026	\N	\N	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	65666	\N	\N	EFO	0	EFO	minimally differentiated acute myeloblastic leukemia	minimally differentiated acute myeloblastic leukemia
EFO:0000222	EFO:0003026	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	206827	\N	\N	EFO	1	EFO	acute myeloid leukemia	minimally differentiated acute myeloblastic leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	559911	\N	\N	EFO	2	EFO	myeloid neoplasm	minimally differentiated acute myeloblastic leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	559912	\N	\N	EFO	2	EFO	Acute Leukemia	minimally differentiated acute myeloblastic leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	1141791	\N	\N	EFO	3	EFO	lymphoid neoplasm	minimally differentiated acute myeloblastic leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	1141792	\N	\N	EFO	3	EFO	leukemia	minimally differentiated acute myeloblastic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	3177638	\N	\N	EFO	5	EFO	cancer	minimally differentiated acute myeloblastic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	3177639	\N	\N	EFO	5	EFO	hematological system disease	minimally differentiated acute myeloblastic leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	2024693	\N	\N	EFO	4	EFO	lymphoid neoplasm	minimally differentiated acute myeloblastic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	4132603	\N	\N	EFO	6	EFO	neoplasm	minimally differentiated acute myeloblastic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	4132604	\N	\N	EFO	6	EFO	disease	minimally differentiated acute myeloblastic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	5180938	\N	\N	EFO	7	EFO	disease	minimally differentiated acute myeloblastic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	5996582	\N	\N	EFO	8	EFO	disposition	minimally differentiated acute myeloblastic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	6469822	\N	\N	EFO	9	EFO	material property	minimally differentiated acute myeloblastic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003026	"An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.  The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies.  The patients present with anemia, neutropenia, and thrombocytopenia.  The prognosis is usually poor.  (WHO, 2001)" []	6848218	\N	\N	EFO	10	EFO	experimental factor	minimally differentiated acute myeloblastic leukemia
EFO:0003027	\N	\N	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	65667	\N	\N	EFO	0	EFO	acute myeloblastic leukemia without maturation	acute myeloblastic leukemia without maturation
EFO:0000222	EFO:0003027	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	206828	\N	\N	EFO	1	EFO	acute myeloid leukemia	acute myeloblastic leukemia without maturation
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	559913	\N	\N	EFO	2	EFO	myeloid neoplasm	acute myeloblastic leukemia without maturation
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	559914	\N	\N	EFO	2	EFO	Acute Leukemia	acute myeloblastic leukemia without maturation
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	1141793	\N	\N	EFO	3	EFO	lymphoid neoplasm	acute myeloblastic leukemia without maturation
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	1141794	\N	\N	EFO	3	EFO	leukemia	acute myeloblastic leukemia without maturation
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	3177642	\N	\N	EFO	5	EFO	cancer	acute myeloblastic leukemia without maturation
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	3177643	\N	\N	EFO	5	EFO	hematological system disease	acute myeloblastic leukemia without maturation
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	2024696	\N	\N	EFO	4	EFO	lymphoid neoplasm	acute myeloblastic leukemia without maturation
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	4132605	\N	\N	EFO	6	EFO	neoplasm	acute myeloblastic leukemia without maturation
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	4132606	\N	\N	EFO	6	EFO	disease	acute myeloblastic leukemia without maturation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	5180940	\N	\N	EFO	7	EFO	disease	acute myeloblastic leukemia without maturation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	5996584	\N	\N	EFO	8	EFO	disposition	acute myeloblastic leukemia without maturation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	6469823	\N	\N	EFO	9	EFO	material property	acute myeloblastic leukemia without maturation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003027	"An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils.  The patients present with anemia, neutropenia, and thrombocytopenia.  This type of AML usually follows an aggressive clinical course.  (WHO, 2001)" []	6848219	\N	\N	EFO	10	EFO	experimental factor	acute myeloblastic leukemia without maturation
EFO:0003028	\N	\N	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	65668	\N	\N	EFO	0	EFO	acute myeloblastic leukemia with maturation	acute myeloblastic leukemia with maturation
EFO:0000222	EFO:0003028	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	206829	\N	\N	EFO	1	EFO	acute myeloid leukemia	acute myeloblastic leukemia with maturation
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	559915	\N	\N	EFO	2	EFO	myeloid neoplasm	acute myeloblastic leukemia with maturation
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	559916	\N	\N	EFO	2	EFO	Acute Leukemia	acute myeloblastic leukemia with maturation
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	1141795	\N	\N	EFO	3	EFO	lymphoid neoplasm	acute myeloblastic leukemia with maturation
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	1141796	\N	\N	EFO	3	EFO	leukemia	acute myeloblastic leukemia with maturation
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	3177646	\N	\N	EFO	5	EFO	cancer	acute myeloblastic leukemia with maturation
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	3177647	\N	\N	EFO	5	EFO	hematological system disease	acute myeloblastic leukemia with maturation
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	2024699	\N	\N	EFO	4	EFO	lymphoid neoplasm	acute myeloblastic leukemia with maturation
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	4132607	\N	\N	EFO	6	EFO	neoplasm	acute myeloblastic leukemia with maturation
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	4132608	\N	\N	EFO	6	EFO	disease	acute myeloblastic leukemia with maturation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	5180942	\N	\N	EFO	7	EFO	disease	acute myeloblastic leukemia with maturation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	5996586	\N	\N	EFO	8	EFO	disposition	acute myeloblastic leukemia with maturation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	6469824	\N	\N	EFO	9	EFO	material property	acute myeloblastic leukemia with maturation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003028	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	6848220	\N	\N	EFO	10	EFO	experimental factor	acute myeloblastic leukemia with maturation
EFO:0003029	\N	\N	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	65669	\N	\N	EFO	0	EFO	acute basophilic leukemia	acute basophilic leukemia
EFO:0000222	EFO:0003029	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	206830	\N	\N	EFO	1	EFO	acute myeloid leukemia	acute basophilic leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	559917	\N	\N	EFO	2	EFO	myeloid neoplasm	acute basophilic leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	559918	\N	\N	EFO	2	EFO	Acute Leukemia	acute basophilic leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	1141797	\N	\N	EFO	3	EFO	lymphoid neoplasm	acute basophilic leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	1141798	\N	\N	EFO	3	EFO	leukemia	acute basophilic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	3177650	\N	\N	EFO	5	EFO	cancer	acute basophilic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	3177651	\N	\N	EFO	5	EFO	hematological system disease	acute basophilic leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	2024702	\N	\N	EFO	4	EFO	lymphoid neoplasm	acute basophilic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	4132609	\N	\N	EFO	6	EFO	neoplasm	acute basophilic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	4132610	\N	\N	EFO	6	EFO	disease	acute basophilic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	5180944	\N	\N	EFO	7	EFO	disease	acute basophilic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	5996588	\N	\N	EFO	8	EFO	disposition	acute basophilic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	6469825	\N	\N	EFO	9	EFO	material property	acute basophilic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003029	"An acute myeloid leukemia in which the immature cells differentiate towards basophils.  This is a rare leukemia.  The observed cases have been associated with a poor prognosis.  The term basophilic leukemia is used as a synonym for acute basophilic leukemia.  Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia.  (WHO, 2001)" []	6848221	\N	\N	EFO	10	EFO	experimental factor	acute basophilic leukemia
EFO:0003030	\N	\N	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	EFO:0003030	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	65670	\N	\N	EFO	0	EFO	abscess	abscess
EFO:0000771	EFO:0003030	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0003030	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	206831	\N	\N	EFO	1	EFO	bacterial disease	abscess
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0003030	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	559919	\N	\N	EFO	2	EFO	infectious disease	abscess
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003030	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	1141799	\N	\N	EFO	3	EFO	disease	abscess
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003030	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	2024703	\N	\N	EFO	4	EFO	disposition	abscess
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003030	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	3177652	\N	\N	EFO	5	EFO	material property	abscess
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003030	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	4387839	\N	\N	EFO	6	EFO	experimental factor	abscess
EFO:0003032	\N	\N	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	EFO:0003032	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	65671	\N	\N	EFO	0	EFO	anaplastic large cell lymphoma	anaplastic large cell lymphoma
EFO:0002426	EFO:0003032	\N	"a neoplasm arising from mature T-cells or natural killer cells" []	EFO:0003032	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	206832	\N	\N	EFO	1	EFO	neoplasm of mature T-cells or NK-cells	anaplastic large cell lymphoma
EFO:0001642	EFO:0002426	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003032	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	559920	\N	\N	EFO	2	EFO	lymphoid neoplasm	anaplastic large cell lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003032	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	1141800	\N	\N	EFO	3	EFO	cancer	anaplastic large cell lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0003032	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	1141801	\N	\N	EFO	3	EFO	hematological system disease	anaplastic large cell lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003032	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	2024704	\N	\N	EFO	4	EFO	neoplasm	anaplastic large cell lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003032	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	2024705	\N	\N	EFO	4	EFO	disease	anaplastic large cell lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003032	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	3177653	\N	\N	EFO	5	EFO	disease	anaplastic large cell lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003032	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	4387840	\N	\N	EFO	6	EFO	disposition	anaplastic large cell lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003032	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	5180946	\N	\N	EFO	7	EFO	material property	anaplastic large cell lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003032	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	5996590	\N	\N	EFO	8	EFO	experimental factor	anaplastic large cell lymphoma
EFO:0003033	\N	\N	"Bacteremia (also bacteraemia) is the presence of bacteria in the blood. Blood is normally a sterile environment, so the detection of bacteria in the blood (most commonly accomplished by blood cultures) is always abnormal. Bacteria can enter the bloodstream as a severe complication of infections (like pneumonia or meningitis), during surgery (especially when involving mucous membranes such as the gastrointestinal tract), or due to catheters and other foreign bodies entering the arteries or veins (including during intravenous drug abuse).\\n\\nBacteremia can have several consequences. The immune response to the bacteria can cause sepsis and septic shock, which has a relatively high mortality rate. Bacteria can also use the blood to spread to other parts of the body (which is called hematogenous spread), causing infections away from the original site of infection. Examples include endocarditis or osteomyelitis. Treatment is with antibiotics, and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected." []	EFO:0003033	"Bacteremia (also bacteraemia) is the presence of bacteria in the blood. Blood is normally a sterile environment, so the detection of bacteria in the blood (most commonly accomplished by blood cultures) is always abnormal. Bacteria can enter the bloodstream as a severe complication of infections (like pneumonia or meningitis), during surgery (especially when involving mucous membranes such as the gastrointestinal tract), or due to catheters and other foreign bodies entering the arteries or veins (including during intravenous drug abuse).\\n\\nBacteremia can have several consequences. The immune response to the bacteria can cause sepsis and septic shock, which has a relatively high mortality rate. Bacteria can also use the blood to spread to other parts of the body (which is called hematogenous spread), causing infections away from the original site of infection. Examples include endocarditis or osteomyelitis. Treatment is with antibiotics, and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected." []	65672	\N	\N	EFO	0	EFO	bacteriemia	bacteriemia
EFO:0000771	EFO:0003033	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0003033	"Bacteremia (also bacteraemia) is the presence of bacteria in the blood. Blood is normally a sterile environment, so the detection of bacteria in the blood (most commonly accomplished by blood cultures) is always abnormal. Bacteria can enter the bloodstream as a severe complication of infections (like pneumonia or meningitis), during surgery (especially when involving mucous membranes such as the gastrointestinal tract), or due to catheters and other foreign bodies entering the arteries or veins (including during intravenous drug abuse).\\n\\nBacteremia can have several consequences. The immune response to the bacteria can cause sepsis and septic shock, which has a relatively high mortality rate. Bacteria can also use the blood to spread to other parts of the body (which is called hematogenous spread), causing infections away from the original site of infection. Examples include endocarditis or osteomyelitis. Treatment is with antibiotics, and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected." []	206833	\N	\N	EFO	1	EFO	bacterial disease	bacteriemia
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0003033	"Bacteremia (also bacteraemia) is the presence of bacteria in the blood. Blood is normally a sterile environment, so the detection of bacteria in the blood (most commonly accomplished by blood cultures) is always abnormal. Bacteria can enter the bloodstream as a severe complication of infections (like pneumonia or meningitis), during surgery (especially when involving mucous membranes such as the gastrointestinal tract), or due to catheters and other foreign bodies entering the arteries or veins (including during intravenous drug abuse).\\n\\nBacteremia can have several consequences. The immune response to the bacteria can cause sepsis and septic shock, which has a relatively high mortality rate. Bacteria can also use the blood to spread to other parts of the body (which is called hematogenous spread), causing infections away from the original site of infection. Examples include endocarditis or osteomyelitis. Treatment is with antibiotics, and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected." []	559921	\N	\N	EFO	2	EFO	infectious disease	bacteriemia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003033	"Bacteremia (also bacteraemia) is the presence of bacteria in the blood. Blood is normally a sterile environment, so the detection of bacteria in the blood (most commonly accomplished by blood cultures) is always abnormal. Bacteria can enter the bloodstream as a severe complication of infections (like pneumonia or meningitis), during surgery (especially when involving mucous membranes such as the gastrointestinal tract), or due to catheters and other foreign bodies entering the arteries or veins (including during intravenous drug abuse).\\n\\nBacteremia can have several consequences. The immune response to the bacteria can cause sepsis and septic shock, which has a relatively high mortality rate. Bacteria can also use the blood to spread to other parts of the body (which is called hematogenous spread), causing infections away from the original site of infection. Examples include endocarditis or osteomyelitis. Treatment is with antibiotics, and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected." []	1141802	\N	\N	EFO	3	EFO	disease	bacteriemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003033	"Bacteremia (also bacteraemia) is the presence of bacteria in the blood. Blood is normally a sterile environment, so the detection of bacteria in the blood (most commonly accomplished by blood cultures) is always abnormal. Bacteria can enter the bloodstream as a severe complication of infections (like pneumonia or meningitis), during surgery (especially when involving mucous membranes such as the gastrointestinal tract), or due to catheters and other foreign bodies entering the arteries or veins (including during intravenous drug abuse).\\n\\nBacteremia can have several consequences. The immune response to the bacteria can cause sepsis and septic shock, which has a relatively high mortality rate. Bacteria can also use the blood to spread to other parts of the body (which is called hematogenous spread), causing infections away from the original site of infection. Examples include endocarditis or osteomyelitis. Treatment is with antibiotics, and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected." []	2024706	\N	\N	EFO	4	EFO	disposition	bacteriemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003033	"Bacteremia (also bacteraemia) is the presence of bacteria in the blood. Blood is normally a sterile environment, so the detection of bacteria in the blood (most commonly accomplished by blood cultures) is always abnormal. Bacteria can enter the bloodstream as a severe complication of infections (like pneumonia or meningitis), during surgery (especially when involving mucous membranes such as the gastrointestinal tract), or due to catheters and other foreign bodies entering the arteries or veins (including during intravenous drug abuse).\\n\\nBacteremia can have several consequences. The immune response to the bacteria can cause sepsis and septic shock, which has a relatively high mortality rate. Bacteria can also use the blood to spread to other parts of the body (which is called hematogenous spread), causing infections away from the original site of infection. Examples include endocarditis or osteomyelitis. Treatment is with antibiotics, and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected." []	3177655	\N	\N	EFO	5	EFO	material property	bacteriemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003033	"Bacteremia (also bacteraemia) is the presence of bacteria in the blood. Blood is normally a sterile environment, so the detection of bacteria in the blood (most commonly accomplished by blood cultures) is always abnormal. Bacteria can enter the bloodstream as a severe complication of infections (like pneumonia or meningitis), during surgery (especially when involving mucous membranes such as the gastrointestinal tract), or due to catheters and other foreign bodies entering the arteries or veins (including during intravenous drug abuse).\\n\\nBacteremia can have several consequences. The immune response to the bacteria can cause sepsis and septic shock, which has a relatively high mortality rate. Bacteria can also use the blood to spread to other parts of the body (which is called hematogenous spread), causing infections away from the original site of infection. Examples include endocarditis or osteomyelitis. Treatment is with antibiotics, and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected." []	4387842	\N	\N	EFO	6	EFO	experimental factor	bacteriemia
EFO:0003035	\N	\N	"Cellulitis is a bacterial infection involving the skin. It specifically affects the dermis and subcutaneous fat. Signs and symptoms include an area of redness which increases in size over a couple of days. The borders of the area of redness are generally not sharp and the skin may be swollen. While the redness often turns white when pressure is applied this is not always the case. The area of infection is usually painful. Lymphatic vessels may occasionally be involved and the person may have a fever and feel tired." []	EFO:0003035	"Cellulitis is a bacterial infection involving the skin. It specifically affects the dermis and subcutaneous fat. Signs and symptoms include an area of redness which increases in size over a couple of days. The borders of the area of redness are generally not sharp and the skin may be swollen. While the redness often turns white when pressure is applied this is not always the case. The area of infection is usually painful. Lymphatic vessels may occasionally be involved and the person may have a fever and feel tired." []	65673	\N	\N	EFO	0	EFO	cellulitis	cellulitis
EFO:0000701	EFO:0003035	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0003035	"Cellulitis is a bacterial infection involving the skin. It specifically affects the dermis and subcutaneous fat. Signs and symptoms include an area of redness which increases in size over a couple of days. The borders of the area of redness are generally not sharp and the skin may be swollen. While the redness often turns white when pressure is applied this is not always the case. The area of infection is usually painful. Lymphatic vessels may occasionally be involved and the person may have a fever and feel tired." []	206834	\N	\N	EFO	1	EFO	skin disease	cellulitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003035	"Cellulitis is a bacterial infection involving the skin. It specifically affects the dermis and subcutaneous fat. Signs and symptoms include an area of redness which increases in size over a couple of days. The borders of the area of redness are generally not sharp and the skin may be swollen. While the redness often turns white when pressure is applied this is not always the case. The area of infection is usually painful. Lymphatic vessels may occasionally be involved and the person may have a fever and feel tired." []	559922	\N	\N	EFO	2	EFO	disease	cellulitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003035	"Cellulitis is a bacterial infection involving the skin. It specifically affects the dermis and subcutaneous fat. Signs and symptoms include an area of redness which increases in size over a couple of days. The borders of the area of redness are generally not sharp and the skin may be swollen. While the redness often turns white when pressure is applied this is not always the case. The area of infection is usually painful. Lymphatic vessels may occasionally be involved and the person may have a fever and feel tired." []	1141803	\N	\N	EFO	3	EFO	disposition	cellulitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003035	"Cellulitis is a bacterial infection involving the skin. It specifically affects the dermis and subcutaneous fat. Signs and symptoms include an area of redness which increases in size over a couple of days. The borders of the area of redness are generally not sharp and the skin may be swollen. While the redness often turns white when pressure is applied this is not always the case. The area of infection is usually painful. Lymphatic vessels may occasionally be involved and the person may have a fever and feel tired." []	2024707	\N	\N	EFO	4	EFO	material property	cellulitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003035	"Cellulitis is a bacterial infection involving the skin. It specifically affects the dermis and subcutaneous fat. Signs and symptoms include an area of redness which increases in size over a couple of days. The borders of the area of redness are generally not sharp and the skin may be swollen. While the redness often turns white when pressure is applied this is not always the case. The area of infection is usually painful. Lymphatic vessels may occasionally be involved and the person may have a fever and feel tired." []	3177656	\N	\N	EFO	5	EFO	experimental factor	cellulitis
EFO:0003036	\N	\N	"A cell with empty-appearing cytoplasm when viewed with a light microscope." []	EFO:0003036	"A cell with empty-appearing cytoplasm when viewed with a light microscope." []	65674	\N	\N	EFO	0	EFO	clear cell	clear cell
EFO:0000324	EFO:0003036	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0003036	"A cell with empty-appearing cytoplasm when viewed with a light microscope." []	206835	\N	\N	EFO	1	EFO	cell type	clear cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003036	"A cell with empty-appearing cytoplasm when viewed with a light microscope." []	559923	\N	\N	EFO	2	EFO	material entity	clear cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003036	"A cell with empty-appearing cytoplasm when viewed with a light microscope." []	1141804	\N	\N	EFO	3	EFO	experimental factor	clear cell
EFO:0003037	\N	\N	"" []	EFO:0003037	"" []	65675	\N	\N	EFO	0	EFO	CMK	CMK
EFO:0002888	EFO:0003037	\N	"" []	EFO:0003037	"" []	206836	\N	\N	EFO	1	EFO	Homo sapiens cell line	CMK
EFO:0002937	EFO:0003037	\N	"" []	EFO:0003037	"" []	206837	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	CMK
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003037	"" []	559924	\N	\N	EFO	2	EFO	cell line	CMK
EFO:0001639	EFO:0002937	\N	"" []	EFO:0003037	"" []	559925	\N	\N	EFO	2	EFO	cancer cell line	CMK
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003037	"" []	2024709	\N	\N	EFO	4	EFO	material entity	CMK
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003037	"" []	1141806	\N	\N	EFO	3	EFO	cell line	CMK
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003037	"" []	2999503	\N	\N	EFO	5	EFO	experimental factor	CMK
EFO:0003039	\N	\N	"The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy." []	EFO:0003039	"The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy." []	65676	\N	\N	EFO	0	EFO	EAhy 926 cell	EAhy 926 cell
EFO:0002888	EFO:0003039	\N	"" []	EFO:0003039	"The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy." []	206838	\N	\N	EFO	1	EFO	Homo sapiens cell line	EAhy 926 cell
EFO:0002934	EFO:0003039	\N	"" []	EFO:0003039	"The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy." []	206839	\N	\N	EFO	1	EFO	lung cancer cell line	EAhy 926 cell
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003039	"The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy." []	559926	\N	\N	EFO	2	EFO	cell line	EAhy 926 cell
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003039	"The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy." []	559927	\N	\N	EFO	2	EFO	cancer cell line	EAhy 926 cell
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003039	"The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy." []	2024711	\N	\N	EFO	4	EFO	material entity	EAhy 926 cell
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003039	"The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy." []	1141808	\N	\N	EFO	3	EFO	cell line	EAhy 926 cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003039	"The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy." []	2999504	\N	\N	EFO	5	EFO	experimental factor	EAhy 926 cell
EFO:0003040	\N	\N	"" []	EFO:0003040	"" []	65677	\N	\N	EFO	0	EFO	embryonic cell line	embryonic cell line
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003040	"" []	206840	\N	\N	EFO	1	EFO	cell line	embryonic cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003040	"" []	559928	\N	\N	EFO	2	EFO	material entity	embryonic cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003040	"" []	1141809	\N	\N	EFO	3	EFO	experimental factor	embryonic cell line
EFO:0003042	\N	\N	"H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1" []	EFO:0003042	"H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1" []	65678	\N	\N	EFO	0	EFO	H1-hESC	H1-hESC
EFO:0002888	EFO:0003042	\N	"" []	EFO:0003042	"H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1" []	206841	\N	\N	EFO	1	EFO	Homo sapiens cell line	H1-hESC
EFO:0003040	EFO:0003042	\N	"" []	EFO:0003042	"H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1" []	206842	\N	\N	EFO	1	EFO	embryonic cell line	H1-hESC
EFO:0005738	EFO:0003042	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0003042	"H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1" []	206843	\N	\N	EFO	1	EFO	ESC derived cell line	H1-hESC
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003042	"H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1" []	559929	\N	\N	EFO	2	EFO	cell line	H1-hESC
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003042	"H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1" []	559930	\N	\N	EFO	2	EFO	cell line	H1-hESC
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0003042	"H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1" []	559931	\N	\N	EFO	2	EFO	stem cell derived cell line	H1-hESC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003042	"H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1" []	2024713	\N	\N	EFO	4	EFO	material entity	H1-hESC
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003042	"H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1" []	1141811	\N	\N	EFO	3	EFO	cell line	H1-hESC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003042	"H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1" []	2999505	\N	\N	EFO	5	EFO	experimental factor	H1-hESC
EFO:0003043	\N	\N	"" []	EFO:0003043	"" []	65679	\N	\N	EFO	0	EFO	NCI-H1299	NCI-H1299
EFO:0002888	EFO:0003043	\N	"" []	EFO:0003043	"" []	206844	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1299
EFO:0002934	EFO:0003043	\N	"" []	EFO:0003043	"" []	206845	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1299
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003043	"" []	559932	\N	\N	EFO	2	EFO	cell line	NCI-H1299
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003043	"" []	559933	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1299
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003043	"" []	2024715	\N	\N	EFO	4	EFO	material entity	NCI-H1299
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003043	"" []	1141813	\N	\N	EFO	3	EFO	cell line	NCI-H1299
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003043	"" []	2999506	\N	\N	EFO	5	EFO	experimental factor	NCI-H1299
EFO:0003044	\N	\N	"" []	EFO:0003044	"" []	65680	\N	\N	EFO	0	EFO	NCI-H460	NCI-H460
EFO:0002888	EFO:0003044	\N	"" []	EFO:0003044	"" []	206846	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H460
EFO:0002934	EFO:0003044	\N	"" []	EFO:0003044	"" []	206847	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H460
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003044	"" []	559934	\N	\N	EFO	2	EFO	cell line	NCI-H460
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003044	"" []	559935	\N	\N	EFO	2	EFO	cancer cell line	NCI-H460
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003044	"" []	2024717	\N	\N	EFO	4	EFO	material entity	NCI-H460
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003044	"" []	1141815	\N	\N	EFO	3	EFO	cell line	NCI-H460
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003044	"" []	2999507	\N	\N	EFO	5	EFO	experimental factor	NCI-H460
EFO:0003045	\N	\N	"" []	EFO:0003045	"" []	65681	\N	\N	EFO	0	EFO	H9	H9
EFO:0002888	EFO:0003045	\N	"" []	EFO:0003045	"" []	206848	\N	\N	EFO	1	EFO	Homo sapiens cell line	H9
EFO:0003040	EFO:0003045	\N	"" []	EFO:0003045	"" []	206849	\N	\N	EFO	1	EFO	embryonic cell line	H9
EFO:0005738	EFO:0003045	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0003045	"" []	206850	\N	\N	EFO	1	EFO	ESC derived cell line	H9
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003045	"" []	559936	\N	\N	EFO	2	EFO	cell line	H9
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003045	"" []	559937	\N	\N	EFO	2	EFO	cell line	H9
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0003045	"" []	559938	\N	\N	EFO	2	EFO	stem cell derived cell line	H9
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003045	"" []	2024719	\N	\N	EFO	4	EFO	material entity	H9
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003045	"" []	1141817	\N	\N	EFO	3	EFO	cell line	H9
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003045	"" []	2999508	\N	\N	EFO	5	EFO	experimental factor	H9
EFO:0003046	\N	\N	"A body response in rejection to a heart transplant. Your immune system will see your donor heart as a foreign object that's not supposed to be in your body. Your immune system will try to attack your donor heart. Although all people who receive a heart transplant receive immunosuppressants  medications that reduce the activity of the immune system  nearly 25 percent of heart transplant recipients still have some signs of rejection during the first year after transplantation." []	EFO:0003046	"A body response in rejection to a heart transplant. Your immune system will see your donor heart as a foreign object that's not supposed to be in your body. Your immune system will try to attack your donor heart. Although all people who receive a heart transplant receive immunosuppressants  medications that reduce the activity of the immune system  nearly 25 percent of heart transplant recipients still have some signs of rejection during the first year after transplantation." []	65682	\N	\N	EFO	0	EFO	heart transplant rejection	heart transplant rejection
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	EFO:0003046	"A body response in rejection to a heart transplant. Your immune system will see your donor heart as a foreign object that's not supposed to be in your body. Your immune system will try to attack your donor heart. Although all people who receive a heart transplant receive immunosuppressants  medications that reduce the activity of the immune system  nearly 25 percent of heart transplant recipients still have some signs of rejection during the first year after transplantation." []	194588	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	heart transplant rejection
EFO:0003047	\N	\N	"A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	EFO:0003047	"A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	65683	\N	\N	EFO	0	EFO	hepatitis C infection	hepatitis C infection
EFO:0004196	EFO:0003047	\N	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	EFO:0003047	"A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	206851	\N	\N	EFO	1	EFO	viral human hepatitis infection	hepatitis C infection
EFO:0000763	EFO:0004196	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0003047	"A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	559939	\N	\N	EFO	2	EFO	viral disease	hepatitis C infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0003047	"A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	1141818	\N	\N	EFO	3	EFO	infectious disease	hepatitis C infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003047	"A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	2024720	\N	\N	EFO	4	EFO	disease	hepatitis C infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003047	"A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	3177657	\N	\N	EFO	5	EFO	disposition	hepatitis C infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003047	"A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	4387843	\N	\N	EFO	6	EFO	material property	hepatitis C infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003047	"A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	5408642	\N	\N	EFO	7	EFO	experimental factor	hepatitis C infection
EFO:0003048	\N	\N	"" []	EFO:0003048	"" []	65684	\N	\N	EFO	0	EFO	HES2	HES2
EFO:0002888	EFO:0003048	\N	"" []	EFO:0003048	"" []	206852	\N	\N	EFO	1	EFO	Homo sapiens cell line	HES2
EFO:0003040	EFO:0003048	\N	"" []	EFO:0003048	"" []	206853	\N	\N	EFO	1	EFO	embryonic cell line	HES2
EFO:0005738	EFO:0003048	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0003048	"" []	206854	\N	\N	EFO	1	EFO	ESC derived cell line	HES2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003048	"" []	559940	\N	\N	EFO	2	EFO	cell line	HES2
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003048	"" []	559941	\N	\N	EFO	2	EFO	cell line	HES2
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0003048	"" []	559942	\N	\N	EFO	2	EFO	stem cell derived cell line	HES2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003048	"" []	2024722	\N	\N	EFO	4	EFO	material entity	HES2
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003048	"" []	1141820	\N	\N	EFO	3	EFO	cell line	HES2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003048	"" []	2999509	\N	\N	EFO	5	EFO	experimental factor	HES2
EFO:0003050	\N	\N	"A malignant epithelial neoplasm composed of large, atypical cells." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	65685	\N	\N	EFO	0	EFO	large cell lung carcinoma	large cell lung carcinoma
EFO:0001071	EFO:0003050	\N	"Tumors or cancer of the LUNG." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	206855	\N	\N	EFO	1	EFO	lung carcinoma	large cell lung carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	559943	\N	\N	EFO	2	EFO	carcinoma	large cell lung carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	559944	\N	\N	EFO	2	EFO	lung disease	large cell lung carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	559945	\N	\N	EFO	2	EFO	respiratory system neoplasm	large cell lung carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	1141821	\N	\N	EFO	3	EFO	cancer	large cell lung carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	1141822	\N	\N	EFO	3	EFO	epithelial neoplasm	large cell lung carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	1141823	\N	\N	EFO	3	EFO	respiratory system disease	large cell lung carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	1141824	\N	\N	EFO	3	EFO	neoplasm	large cell lung carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	1141825	\N	\N	EFO	3	EFO	respiratory system disease	large cell lung carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	2024723	\N	\N	EFO	4	EFO	neoplasm	large cell lung carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	2024724	\N	\N	EFO	4	EFO	neoplasm	large cell lung carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	2024725	\N	\N	EFO	4	EFO	disease	large cell lung carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	3177658	\N	\N	EFO	5	EFO	disease	large cell lung carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	4132611	\N	\N	EFO	6	EFO	disposition	large cell lung carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	5180947	\N	\N	EFO	7	EFO	material property	large cell lung carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003050	"A malignant epithelial neoplasm composed of large, atypical cells." []	5996591	\N	\N	EFO	8	EFO	experimental factor	large cell lung carcinoma
EFO:0003055	\N	\N	"" []	EFO:0003055	"" []	65686	\N	\N	EFO	0	EFO	LP1	LP1
EFO:0002888	EFO:0003055	\N	"" []	EFO:0003055	"" []	206856	\N	\N	EFO	1	EFO	Homo sapiens cell line	LP1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003055	"" []	559946	\N	\N	EFO	2	EFO	cell line	LP1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003055	"" []	1141826	\N	\N	EFO	3	EFO	material entity	LP1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003055	"" []	2024727	\N	\N	EFO	4	EFO	experimental factor	LP1
EFO:0003056	\N	\N	"The human melanoma cell line M14 has been established from surgically removed melanoma metastases." []	EFO:0003056	"The human melanoma cell line M14 has been established from surgically removed melanoma metastases." []	65687	\N	\N	EFO	0	EFO	M14	M14
BTO:0000849	EFO:0003056	\N	"" []	EFO:0003056	"The human melanoma cell line M14 has been established from surgically removed melanoma metastases." []	206857	\N	\N	EFO	1	EFO	melanoma cell line	M14
EFO:0002888	EFO:0003056	\N	"" []	EFO:0003056	"The human melanoma cell line M14 has been established from surgically removed melanoma metastases." []	206858	\N	\N	EFO	1	EFO	Homo sapiens cell line	M14
EFO:0001639	BTO:0000849	\N	"" []	EFO:0003056	"The human melanoma cell line M14 has been established from surgically removed melanoma metastases." []	559947	\N	\N	EFO	2	EFO	cancer cell line	M14
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003056	"The human melanoma cell line M14 has been established from surgically removed melanoma metastases." []	559948	\N	\N	EFO	2	EFO	cell line	M14
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003056	"The human melanoma cell line M14 has been established from surgically removed melanoma metastases." []	1141827	\N	\N	EFO	3	EFO	cell line	M14
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003056	"The human melanoma cell line M14 has been established from surgically removed melanoma metastases." []	2024728	\N	\N	EFO	4	EFO	material entity	M14
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003056	"The human melanoma cell line M14 has been established from surgically removed melanoma metastases." []	2999510	\N	\N	EFO	5	EFO	experimental factor	M14
EFO:0003060	\N	\N	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	65688	\N	\N	EFO	0	EFO	non-small cell lung carcinoma	non-small cell lung carcinoma
EFO:0001071	EFO:0003060	\N	"Tumors or cancer of the LUNG." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	206859	\N	\N	EFO	1	EFO	lung carcinoma	non-small cell lung carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	559949	\N	\N	EFO	2	EFO	carcinoma	non-small cell lung carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	559950	\N	\N	EFO	2	EFO	lung disease	non-small cell lung carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	559951	\N	\N	EFO	2	EFO	respiratory system neoplasm	non-small cell lung carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	1141829	\N	\N	EFO	3	EFO	cancer	non-small cell lung carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	1141830	\N	\N	EFO	3	EFO	epithelial neoplasm	non-small cell lung carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	1141831	\N	\N	EFO	3	EFO	respiratory system disease	non-small cell lung carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	1141832	\N	\N	EFO	3	EFO	neoplasm	non-small cell lung carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	1141833	\N	\N	EFO	3	EFO	respiratory system disease	non-small cell lung carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	2024730	\N	\N	EFO	4	EFO	neoplasm	non-small cell lung carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	2024731	\N	\N	EFO	4	EFO	neoplasm	non-small cell lung carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	2024732	\N	\N	EFO	4	EFO	disease	non-small cell lung carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	3177660	\N	\N	EFO	5	EFO	disease	non-small cell lung carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	4132612	\N	\N	EFO	6	EFO	disposition	non-small cell lung carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	5180948	\N	\N	EFO	7	EFO	material property	non-small cell lung carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003060	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	5996592	\N	\N	EFO	8	EFO	experimental factor	non-small cell lung carcinoma
EFO:0003061	\N	\N	"" []	EFO:0003061	"" []	65689	\N	\N	EFO	0	EFO	OVCAR3	OVCAR3
EFO:0002394	EFO:0003061	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0003061	"" []	206860	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVCAR3
EFO:0002888	EFO:0003061	\N	"" []	EFO:0003061	"" []	206861	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVCAR3
EFO:0001639	EFO:0002394	\N	"" []	EFO:0003061	"" []	559952	\N	\N	EFO	2	EFO	cancer cell line	OVCAR3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003061	"" []	559953	\N	\N	EFO	2	EFO	cell line	OVCAR3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003061	"" []	1141834	\N	\N	EFO	3	EFO	cell line	OVCAR3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003061	"" []	2024734	\N	\N	EFO	4	EFO	material entity	OVCAR3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003061	"" []	2999511	\N	\N	EFO	5	EFO	experimental factor	OVCAR3
EFO:0003063	\N	\N	"Polymyositis (PM)(\\"inflammation of many muscles\\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." []	EFO:0003063	"Polymyositis (PM)(\\"inflammation of many muscles\\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." []	65690	\N	\N	EFO	0	EFO	polymyositis	polymyositis
EFO:0000783	EFO:0003063	\N	"Inflammation of a muscle or muscle tissue." []	EFO:0003063	"Polymyositis (PM)(\\"inflammation of many muscles\\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." []	206862	\N	\N	EFO	1	EFO	myositis	polymyositis
EFO:0000540	EFO:0000783	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003063	"Polymyositis (PM)(\\"inflammation of many muscles\\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." []	559954	\N	\N	EFO	2	EFO	immune system disease	polymyositis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003063	"Polymyositis (PM)(\\"inflammation of many muscles\\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." []	1141836	\N	\N	EFO	3	EFO	disease	polymyositis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003063	"Polymyositis (PM)(\\"inflammation of many muscles\\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." []	2024736	\N	\N	EFO	4	EFO	disposition	polymyositis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003063	"Polymyositis (PM)(\\"inflammation of many muscles\\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." []	3177662	\N	\N	EFO	5	EFO	material property	polymyositis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003063	"Polymyositis (PM)(\\"inflammation of many muscles\\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." []	4387846	\N	\N	EFO	6	EFO	experimental factor	polymyositis
EFO:0003064	\N	\N	"" []	EFO:0003064	"" []	65691	\N	\N	EFO	0	EFO	primary cell line	primary cell line
EFO:0000322	EFO:0003064	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003064	"" []	206863	\N	\N	EFO	1	EFO	cell line	primary cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003064	"" []	559955	\N	\N	EFO	2	EFO	material entity	primary cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003064	"" []	1141837	\N	\N	EFO	3	EFO	experimental factor	primary cell line
EFO:0003067	\N	\N	"" []	EFO:0003067	"" []	65692	\N	\N	EFO	0	EFO	latissimus dorsi	latissimus dorsi
UBERON:0014892	EFO:0003067	\N	"A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles)." []	EFO:0003067	"" []	206864	\N	\N	EFO	1	EFO	skeletal muscle organ	latissimus dorsi
EFO:0003072	\N	\N	"" []	EFO:0003072	"" []	65693	\N	\N	EFO	0	EFO	SK-N-SH	SK-N-SH
EFO:0002888	EFO:0003072	\N	"" []	EFO:0003072	"" []	206865	\N	\N	EFO	1	EFO	Homo sapiens cell line	SK-N-SH
EFO:0005214	EFO:0003072	\N	"A cell line which is a model for neuroblastoma." []	EFO:0003072	"" []	206866	\N	\N	EFO	1	EFO	neuroblastoma cell line	SK-N-SH
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003072	"" []	559956	\N	\N	EFO	2	EFO	cell line	SK-N-SH
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003072	"" []	559957	\N	\N	EFO	2	EFO	cell line	SK-N-SH
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003072	"" []	1141838	\N	\N	EFO	3	EFO	material entity	SK-N-SH
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003072	"" []	2024737	\N	\N	EFO	4	EFO	experimental factor	SK-N-SH
EFO:0003073	\N	\N	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	65694	\N	\N	EFO	0	EFO	asymptomatic myeloma	asymptomatic myeloma
EFO:0001378	EFO:0003073	\N	"A myeloma that is located_in the plasma cells in bone marrow." []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	206867	\N	\N	EFO	1	EFO	multiple myeloma	asymptomatic myeloma
EFO:0000200	EFO:0001378	\N	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	559958	\N	\N	EFO	2	EFO	plasma cell neoplasm	asymptomatic myeloma
EFO:0000096	EFO:0000200	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	1141839	\N	\N	EFO	3	EFO	neoplasm of mature B-cells	asymptomatic myeloma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	2024738	\N	\N	EFO	4	EFO	lymphoid neoplasm	asymptomatic myeloma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	3177663	\N	\N	EFO	5	EFO	cancer	asymptomatic myeloma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	3177664	\N	\N	EFO	5	EFO	hematological system disease	asymptomatic myeloma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	4387847	\N	\N	EFO	6	EFO	neoplasm	asymptomatic myeloma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	4387848	\N	\N	EFO	6	EFO	disease	asymptomatic myeloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	5408645	\N	\N	EFO	7	EFO	disease	asymptomatic myeloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	6147445	\N	\N	EFO	8	EFO	disposition	asymptomatic myeloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	6550372	\N	\N	EFO	9	EFO	material property	asymptomatic myeloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003073	"A plasma cell myeloma lacking clinical manifestations and organ impairment." []	6888974	\N	\N	EFO	10	EFO	experimental factor	asymptomatic myeloma
EFO:0003074	\N	\N	"Mouse embryonic stem cell line" []	EFO:0003074	"Mouse embryonic stem cell line" []	65695	\N	\N	EFO	0	EFO	ES cell line	ES cell line
EFO:0002887	EFO:0003074	\N	"Cell lines derived from mice." []	EFO:0003074	"Mouse embryonic stem cell line" []	206868	\N	\N	EFO	1	EFO	mouse cell line	ES cell line
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003074	"Mouse embryonic stem cell line" []	559959	\N	\N	EFO	2	EFO	cell line	ES cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003074	"Mouse embryonic stem cell line" []	1141840	\N	\N	EFO	3	EFO	material entity	ES cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003074	"Mouse embryonic stem cell line" []	2024739	\N	\N	EFO	4	EFO	experimental factor	ES cell line
EFO:0003075	\N	\N	"A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. " []	EFO:0003075	"A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. " []	65696	\N	\N	EFO	0	EFO	xanthoma	xanthoma
EFO:0000589	EFO:0003075	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0003075	"A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. " []	206869	\N	\N	EFO	1	EFO	metabolic disease	xanthoma
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003075	"A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. " []	559960	\N	\N	EFO	2	EFO	disease	xanthoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003075	"A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. " []	1141841	\N	\N	EFO	3	EFO	disposition	xanthoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003075	"A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. " []	2024740	\N	\N	EFO	4	EFO	material property	xanthoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003075	"A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. " []	3177665	\N	\N	EFO	5	EFO	experimental factor	xanthoma
EFO:0003076	\N	\N	"An epithelial cell lining the thyroid follicle." []	EFO:0003076	"An epithelial cell lining the thyroid follicle." []	65697	\N	\N	EFO	0	EFO	thyrocyte	thyrocyte
CL:0000066	EFO:0003076	\N	"Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH)." []	EFO:0003076	"An epithelial cell lining the thyroid follicle." []	206870	\N	\N	EFO	1	EFO	epithelial cell	thyrocyte
EFO:0000324	CL:0000066	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0003076	"An epithelial cell lining the thyroid follicle." []	559961	\N	\N	EFO	2	EFO	cell type	thyrocyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003076	"An epithelial cell lining the thyroid follicle." []	1141842	\N	\N	EFO	3	EFO	material entity	thyrocyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003076	"An epithelial cell lining the thyroid follicle." []	2024741	\N	\N	EFO	4	EFO	experimental factor	thyrocyte
EFO:0003077	\N	\N	"A porelike structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates to the canal of Schlemm. (MeSH)" []	EFO:0003077	"A porelike structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates to the canal of Schlemm. (MeSH)" []	65698	\N	\N	EFO	0	EFO	trabecular meshwork	trabecular meshwork
UBERON:0000964	\N	\N	"transparent front part of the eye that covers the iris, pupil, and anterior chamber. Together with the lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power." [Wikipedia:Cornea]	EFO:0003077	"A porelike structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates to the canal of Schlemm. (MeSH)" []	194589	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	cornea	trabecular meshwork
EFO:0003081	\N	\N	"" []	EFO:0003081	"" []	65699	\N	\N	EFO	0	EFO	SK-MEL-28	SK-MEL-28
BTO:0000849	EFO:0003081	\N	"" []	EFO:0003081	"" []	206871	\N	\N	EFO	1	EFO	melanoma cell line	SK-MEL-28
EFO:0002888	EFO:0003081	\N	"" []	EFO:0003081	"" []	206872	\N	\N	EFO	1	EFO	Homo sapiens cell line	SK-MEL-28
EFO:0001639	BTO:0000849	\N	"" []	EFO:0003081	"" []	559962	\N	\N	EFO	2	EFO	cancer cell line	SK-MEL-28
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003081	"" []	559963	\N	\N	EFO	2	EFO	cell line	SK-MEL-28
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003081	"" []	1141843	\N	\N	EFO	3	EFO	cell line	SK-MEL-28
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003081	"" []	2024742	\N	\N	EFO	4	EFO	material entity	SK-MEL-28
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003081	"" []	2999512	\N	\N	EFO	5	EFO	experimental factor	SK-MEL-28
EFO:0003082	\N	\N	"" []	EFO:0003082	"" []	65700	\N	\N	EFO	0	EFO	COLO205	COLO205
BTO:0000797	\N	\N	"" []	EFO:0003082	"" []	194590	\N	\N	EFO	0	EFO	colonic cancer cell line	COLO205
EFO:0001639	EFO:0003082	\N	"" []	EFO:0003082	"" []	206873	\N	\N	EFO	1	EFO	cancer cell line	COLO205
EFO:0002888	EFO:0003082	\N	"" []	EFO:0003082	"" []	206874	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO205
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003082	"" []	559964	\N	\N	EFO	2	EFO	cell line	COLO205
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003082	"" []	559965	\N	\N	EFO	2	EFO	cell line	COLO205
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003082	"" []	1141845	\N	\N	EFO	3	EFO	material entity	COLO205
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003082	"" []	2024744	\N	\N	EFO	4	EFO	experimental factor	COLO205
EFO:0003083	\N	\N	"A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma.  It is the rarest liposarcoma variant and usually has an aggressive clinical course." []	EFO:0003083	"A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma.  It is the rarest liposarcoma variant and usually has an aggressive clinical course." []	65701	\N	\N	EFO	0	EFO	pleomorphic liposarcoma	pleomorphic liposarcoma
EFO:0000569	EFO:0003083	\N	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	EFO:0003083	"A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma.  It is the rarest liposarcoma variant and usually has an aggressive clinical course." []	206875	\N	\N	EFO	1	EFO	liposarcoma	pleomorphic liposarcoma
EFO:0000691	EFO:0000569	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0003083	"A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma.  It is the rarest liposarcoma variant and usually has an aggressive clinical course." []	559966	\N	\N	EFO	2	EFO	sarcoma	pleomorphic liposarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003083	"A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma.  It is the rarest liposarcoma variant and usually has an aggressive clinical course." []	1141846	\N	\N	EFO	3	EFO	cancer	pleomorphic liposarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003083	"A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma.  It is the rarest liposarcoma variant and usually has an aggressive clinical course." []	2024745	\N	\N	EFO	4	EFO	neoplasm	pleomorphic liposarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003083	"A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma.  It is the rarest liposarcoma variant and usually has an aggressive clinical course." []	3177666	\N	\N	EFO	5	EFO	disease	pleomorphic liposarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003083	"A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma.  It is the rarest liposarcoma variant and usually has an aggressive clinical course." []	4387849	\N	\N	EFO	6	EFO	disposition	pleomorphic liposarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003083	"A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma.  It is the rarest liposarcoma variant and usually has an aggressive clinical course." []	5408647	\N	\N	EFO	7	EFO	material property	pleomorphic liposarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003083	"A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma.  It is the rarest liposarcoma variant and usually has an aggressive clinical course." []	6147447	\N	\N	EFO	8	EFO	experimental factor	pleomorphic liposarcoma
EFO:0003084	\N	\N	"A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." []	EFO:0003084	"A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." []	65702	\N	\N	EFO	0	EFO	round cell liposarcoma	round cell liposarcoma
EFO:0000569	EFO:0003084	\N	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	EFO:0003084	"A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." []	206876	\N	\N	EFO	1	EFO	liposarcoma	round cell liposarcoma
EFO:0000691	EFO:0000569	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0003084	"A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." []	559967	\N	\N	EFO	2	EFO	sarcoma	round cell liposarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003084	"A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." []	1141847	\N	\N	EFO	3	EFO	cancer	round cell liposarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003084	"A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." []	2024746	\N	\N	EFO	4	EFO	neoplasm	round cell liposarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003084	"A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." []	3177667	\N	\N	EFO	5	EFO	disease	round cell liposarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003084	"A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." []	4387850	\N	\N	EFO	6	EFO	disposition	round cell liposarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003084	"A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." []	5408648	\N	\N	EFO	7	EFO	material property	round cell liposarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003084	"A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." []	6147448	\N	\N	EFO	8	EFO	experimental factor	round cell liposarcoma
EFO:0003085	\N	\N	"A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component.  The non-lipomatous component may be present in the primary lesion or at the site of metastasis." []	EFO:0003085	"A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component.  The non-lipomatous component may be present in the primary lesion or at the site of metastasis." []	65703	\N	\N	EFO	0	EFO	dedifferentiated liposarcoma	dedifferentiated liposarcoma
EFO:0000569	EFO:0003085	\N	"A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors." []	EFO:0003085	"A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component.  The non-lipomatous component may be present in the primary lesion or at the site of metastasis." []	206877	\N	\N	EFO	1	EFO	liposarcoma	dedifferentiated liposarcoma
EFO:0000691	EFO:0000569	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0003085	"A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component.  The non-lipomatous component may be present in the primary lesion or at the site of metastasis." []	559968	\N	\N	EFO	2	EFO	sarcoma	dedifferentiated liposarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003085	"A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component.  The non-lipomatous component may be present in the primary lesion or at the site of metastasis." []	1141848	\N	\N	EFO	3	EFO	cancer	dedifferentiated liposarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003085	"A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component.  The non-lipomatous component may be present in the primary lesion or at the site of metastasis." []	2024747	\N	\N	EFO	4	EFO	neoplasm	dedifferentiated liposarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003085	"A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component.  The non-lipomatous component may be present in the primary lesion or at the site of metastasis." []	3177668	\N	\N	EFO	5	EFO	disease	dedifferentiated liposarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003085	"A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component.  The non-lipomatous component may be present in the primary lesion or at the site of metastasis." []	4387851	\N	\N	EFO	6	EFO	disposition	dedifferentiated liposarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003085	"A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component.  The non-lipomatous component may be present in the primary lesion or at the site of metastasis." []	5408649	\N	\N	EFO	7	EFO	material property	dedifferentiated liposarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003085	"A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component.  The non-lipomatous component may be present in the primary lesion or at the site of metastasis." []	6147449	\N	\N	EFO	8	EFO	experimental factor	dedifferentiated liposarcoma
EFO:0003086	\N	\N	"A disease affecting the kidneys" []	EFO:0003086	"A disease affecting the kidneys" []	65704	\N	\N	EFO	0	EFO	kidney disease	kidney disease
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003086	"A disease affecting the kidneys" []	206878	\N	\N	EFO	1	EFO	disease	kidney disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003086	"A disease affecting the kidneys" []	559969	\N	\N	EFO	2	EFO	disposition	kidney disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003086	"A disease affecting the kidneys" []	1141849	\N	\N	EFO	3	EFO	material property	kidney disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003086	"A disease affecting the kidneys" []	2024748	\N	\N	EFO	4	EFO	experimental factor	kidney disease
EFO:0003093	\N	\N	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	65705	\N	\N	EFO	0	EFO	adrenocortical carcinoma	adrenocortical carcinoma
EFO:0000313	EFO:0003093	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	206879	\N	\N	EFO	1	EFO	carcinoma	adrenocortical carcinoma
EFO:0003769	EFO:0003093	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	206880	\N	\N	EFO	1	EFO	endocrine neoplasm	adrenocortical carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	559970	\N	\N	EFO	2	EFO	cancer	adrenocortical carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	559971	\N	\N	EFO	2	EFO	epithelial neoplasm	adrenocortical carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	559972	\N	\N	EFO	2	EFO	neoplasm	adrenocortical carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	559973	\N	\N	EFO	2	EFO	endocrine system disease	adrenocortical carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	1141850	\N	\N	EFO	3	EFO	neoplasm	adrenocortical carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	1141851	\N	\N	EFO	3	EFO	neoplasm	adrenocortical carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	2024749	\N	\N	EFO	4	EFO	disease	adrenocortical carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	1141853	\N	\N	EFO	3	EFO	disease	adrenocortical carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	2999513	\N	\N	EFO	5	EFO	disposition	adrenocortical carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	4132613	\N	\N	EFO	6	EFO	material property	adrenocortical carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003093	"An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland." []	5180949	\N	\N	EFO	7	EFO	experimental factor	adrenocortical carcinoma
EFO:0003094	\N	\N	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	65706	\N	\N	EFO	0	EFO	ganglioglioma	ganglioglioma
EFO:0005543	EFO:0003094	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	206881	\N	\N	EFO	1	EFO	glioma	ganglioglioma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	559974	\N	\N	EFO	2	EFO	central nervous system cancer	ganglioglioma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	559975	\N	\N	EFO	2	EFO	brain neoplasm	ganglioglioma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	1141854	\N	\N	EFO	3	EFO	cancer	ganglioglioma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	1141855	\N	\N	EFO	3	EFO	nervous system disease	ganglioglioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	1141856	\N	\N	EFO	3	EFO	neoplasm	ganglioglioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	1141857	\N	\N	EFO	3	EFO	brain disease	ganglioglioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	2024751	\N	\N	EFO	4	EFO	neoplasm	ganglioglioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	3177672	\N	\N	EFO	5	EFO	disease	ganglioglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	3177670	\N	\N	EFO	5	EFO	disease	ganglioglioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	2024754	\N	\N	EFO	4	EFO	nervous system disease	ganglioglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	4132614	\N	\N	EFO	6	EFO	disposition	ganglioglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	5180950	\N	\N	EFO	7	EFO	material property	ganglioglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003094	"A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. " []	5996593	\N	\N	EFO	8	EFO	experimental factor	ganglioglioma
EFO:0003095	\N	\N	"A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." []	EFO:0003095	"A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." []	65707	\N	\N	EFO	0	EFO	non-alcoholic fatty liver disease	non-alcoholic fatty liver disease
EFO:0001421	EFO:0003095	\N	"Pathological processes of the LIVER." []	EFO:0003095	"A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." []	206882	\N	\N	EFO	1	EFO	liver disease	non-alcoholic fatty liver disease
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003095	"A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." []	559976	\N	\N	EFO	2	EFO	digestive system disease	non-alcoholic fatty liver disease
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0003095	"A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." []	559977	\N	\N	EFO	2	EFO	endocrine system disease	non-alcoholic fatty liver disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003095	"A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." []	1141858	\N	\N	EFO	3	EFO	disease	non-alcoholic fatty liver disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003095	"A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." []	1141859	\N	\N	EFO	3	EFO	disease	non-alcoholic fatty liver disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003095	"A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." []	2024755	\N	\N	EFO	4	EFO	disposition	non-alcoholic fatty liver disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003095	"A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." []	3177673	\N	\N	EFO	5	EFO	material property	non-alcoholic fatty liver disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003095	"A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." []	4387854	\N	\N	EFO	6	EFO	experimental factor	non-alcoholic fatty liver disease
EFO:0003096	\N	\N	"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." []	EFO:0003096	"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." []	65708	\N	\N	EFO	0	EFO	Pick disease	Pick disease
EFO:0005774	EFO:0003096	\N	"A disease affecting the brain or part of the brain." []	EFO:0003096	"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." []	206883	\N	\N	EFO	1	EFO	brain disease	Pick disease
EFO:0005815	EFO:0003096	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	EFO:0003096	"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." []	206884	\N	\N	EFO	1	EFO	tauopathy	Pick disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003096	"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." []	559978	\N	\N	EFO	2	EFO	nervous system disease	Pick disease
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:0003096	"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." []	559979	\N	\N	EFO	2	EFO	neurodegenerative disease	Pick disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003096	"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." []	2024757	\N	\N	EFO	4	EFO	disease	Pick disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003096	"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." []	1141861	\N	\N	EFO	3	EFO	nervous system disease	Pick disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003096	"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." []	2999514	\N	\N	EFO	5	EFO	disposition	Pick disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003096	"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." []	4132615	\N	\N	EFO	6	EFO	material property	Pick disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003096	"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." []	5180951	\N	\N	EFO	7	EFO	experimental factor	Pick disease
EFO:0003097	\N	\N	"An accumulation of pus, usually in a body cavity" []	EFO:0003097	"An accumulation of pus, usually in a body cavity" []	65709	\N	\N	EFO	0	EFO	empyema	empyema
EFO:0000771	EFO:0003097	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0003097	"An accumulation of pus, usually in a body cavity" []	206885	\N	\N	EFO	1	EFO	bacterial disease	empyema
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0003097	"An accumulation of pus, usually in a body cavity" []	559980	\N	\N	EFO	2	EFO	infectious disease	empyema
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003097	"An accumulation of pus, usually in a body cavity" []	1141862	\N	\N	EFO	3	EFO	disease	empyema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003097	"An accumulation of pus, usually in a body cavity" []	2024758	\N	\N	EFO	4	EFO	disposition	empyema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003097	"An accumulation of pus, usually in a body cavity" []	3177675	\N	\N	EFO	5	EFO	material property	empyema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003097	"An accumulation of pus, usually in a body cavity" []	4387856	\N	\N	EFO	6	EFO	experimental factor	empyema
EFO:0003099	\N	\N	"Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland." []	EFO:0003099	"Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland." []	65710	\N	\N	EFO	0	EFO	Cushing syndrome	Cushing syndrome
EFO:0001379	EFO:0003099	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0003099	"Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland." []	206886	\N	\N	EFO	1	EFO	endocrine system disease	Cushing syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003099	"Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland." []	559981	\N	\N	EFO	2	EFO	disease	Cushing syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003099	"Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland." []	1141863	\N	\N	EFO	3	EFO	disposition	Cushing syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003099	"Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland." []	2024759	\N	\N	EFO	4	EFO	material property	Cushing syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003099	"Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland." []	3177676	\N	\N	EFO	5	EFO	experimental factor	Cushing syndrome
EFO:0003100	\N	\N	"A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." []	EFO:0003100	"A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." []	65711	\N	\N	EFO	0	EFO	peripheral neuropathy	peripheral neuropathy
EFO:0004149	EFO:0003100	\N	"A nervous system disease that is located in the nervous system." []	EFO:0003100	"A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." []	206887	\N	\N	EFO	1	EFO	neuropathy	peripheral neuropathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003100	"A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." []	559982	\N	\N	EFO	2	EFO	nervous system disease	peripheral neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003100	"A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." []	1141864	\N	\N	EFO	3	EFO	disease	peripheral neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003100	"A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." []	2024760	\N	\N	EFO	4	EFO	disposition	peripheral neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003100	"A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." []	3177677	\N	\N	EFO	5	EFO	material property	peripheral neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003100	"A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." []	4387857	\N	\N	EFO	6	EFO	experimental factor	peripheral neuropathy
EFO:0003101	\N	\N	"A malignant germ cell tumor arising from the testis.  It is believed that it is derived from the sexually undifferentiated embryonic gonad.  Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." []	EFO:0003101	"A malignant germ cell tumor arising from the testis.  It is believed that it is derived from the sexually undifferentiated embryonic gonad.  Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." []	65712	\N	\N	EFO	0	EFO	testicular seminoma	testicular seminoma
EFO:0000512	EFO:0003101	\N	"any diease of the reproductive system" []	EFO:0003101	"A malignant germ cell tumor arising from the testis.  It is believed that it is derived from the sexually undifferentiated embryonic gonad.  Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." []	206888	\N	\N	EFO	1	EFO	reproductive system disease	testicular seminoma
EFO:0000514	EFO:0003101	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:0003101	"A malignant germ cell tumor arising from the testis.  It is believed that it is derived from the sexually undifferentiated embryonic gonad.  Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." []	206889	\N	\N	EFO	1	EFO	germ cell tumor	testicular seminoma
EFO:0003863	EFO:0003101	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0003101	"A malignant germ cell tumor arising from the testis.  It is believed that it is derived from the sexually undifferentiated embryonic gonad.  Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." []	206890	\N	\N	EFO	1	EFO	urogenital neoplasm	testicular seminoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003101	"A malignant germ cell tumor arising from the testis.  It is believed that it is derived from the sexually undifferentiated embryonic gonad.  Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." []	559983	\N	\N	EFO	2	EFO	disease	testicular seminoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003101	"A malignant germ cell tumor arising from the testis.  It is believed that it is derived from the sexually undifferentiated embryonic gonad.  Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." []	559984	\N	\N	EFO	2	EFO	neoplasm	testicular seminoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003101	"A malignant germ cell tumor arising from the testis.  It is believed that it is derived from the sexually undifferentiated embryonic gonad.  Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." []	559985	\N	\N	EFO	2	EFO	neoplasm	testicular seminoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003101	"A malignant germ cell tumor arising from the testis.  It is believed that it is derived from the sexually undifferentiated embryonic gonad.  Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." []	2024762	\N	\N	EFO	4	EFO	disposition	testicular seminoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003101	"A malignant germ cell tumor arising from the testis.  It is believed that it is derived from the sexually undifferentiated embryonic gonad.  Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." []	1141866	\N	\N	EFO	3	EFO	disease	testicular seminoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003101	"A malignant germ cell tumor arising from the testis.  It is believed that it is derived from the sexually undifferentiated embryonic gonad.  Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." []	2999515	\N	\N	EFO	5	EFO	material property	testicular seminoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003101	"A malignant germ cell tumor arising from the testis.  It is believed that it is derived from the sexually undifferentiated embryonic gonad.  Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." []	4132616	\N	\N	EFO	6	EFO	experimental factor	testicular seminoma
EFO:0003102	\N	\N	"A bone inflammation disease that results_from infection located_in bone and located_in bone marrow." []	EFO:0003102	"A bone inflammation disease that results_from infection located_in bone and located_in bone marrow." []	65713	\N	\N	EFO	0	EFO	osteomyelitis	osteomyelitis
EFO:0000771	EFO:0003102	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0003102	"A bone inflammation disease that results_from infection located_in bone and located_in bone marrow." []	206891	\N	\N	EFO	1	EFO	bacterial disease	osteomyelitis
EFO:0004260	EFO:0003102	\N	"Diseases of BONES." []	EFO:0003102	"A bone inflammation disease that results_from infection located_in bone and located_in bone marrow." []	206892	\N	\N	EFO	1	EFO	bone disease	osteomyelitis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0003102	"A bone inflammation disease that results_from infection located_in bone and located_in bone marrow." []	559986	\N	\N	EFO	2	EFO	infectious disease	osteomyelitis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0003102	"A bone inflammation disease that results_from infection located_in bone and located_in bone marrow." []	559987	\N	\N	EFO	2	EFO	skeletal system disease	osteomyelitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003102	"A bone inflammation disease that results_from infection located_in bone and located_in bone marrow." []	1141867	\N	\N	EFO	3	EFO	disease	osteomyelitis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003102	"A bone inflammation disease that results_from infection located_in bone and located_in bone marrow." []	1141868	\N	\N	EFO	3	EFO	disease	osteomyelitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003102	"A bone inflammation disease that results_from infection located_in bone and located_in bone marrow." []	2024763	\N	\N	EFO	4	EFO	disposition	osteomyelitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003102	"A bone inflammation disease that results_from infection located_in bone and located_in bone marrow." []	3177679	\N	\N	EFO	5	EFO	material property	osteomyelitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003102	"A bone inflammation disease that results_from infection located_in bone and located_in bone marrow." []	4387858	\N	\N	EFO	6	EFO	experimental factor	osteomyelitis
EFO:0003103	\N	\N	"A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." []	EFO:0003103	"A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." []	65714	\N	\N	EFO	0	EFO	urinary tract infection	urinary tract infection
EFO:0000771	EFO:0003103	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0003103	"A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." []	206893	\N	\N	EFO	1	EFO	bacterial disease	urinary tract infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0003103	"A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." []	559988	\N	\N	EFO	2	EFO	infectious disease	urinary tract infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003103	"A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." []	1141869	\N	\N	EFO	3	EFO	disease	urinary tract infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003103	"A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." []	2024764	\N	\N	EFO	4	EFO	disposition	urinary tract infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003103	"A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." []	3177680	\N	\N	EFO	5	EFO	material property	urinary tract infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003103	"A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." []	4387859	\N	\N	EFO	6	EFO	experimental factor	urinary tract infection
EFO:0003104	\N	\N	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	EFO:0003104	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	65715	\N	\N	EFO	0	EFO	adrenocortical adenoma	adrenocortical adenoma
EFO:0000232	EFO:0003104	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:0003104	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	206894	\N	\N	EFO	1	EFO	adenoma	adrenocortical adenoma
EFO:0003769	EFO:0003104	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0003104	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	206895	\N	\N	EFO	1	EFO	endocrine neoplasm	adrenocortical adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0003104	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	559989	\N	\N	EFO	2	EFO	benign neoplasm	adrenocortical adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003104	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	559990	\N	\N	EFO	2	EFO	neoplasm	adrenocortical adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0003104	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	559991	\N	\N	EFO	2	EFO	endocrine system disease	adrenocortical adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003104	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	1141870	\N	\N	EFO	3	EFO	neoplasm	adrenocortical adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003104	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	2024765	\N	\N	EFO	4	EFO	disease	adrenocortical adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003104	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	1141872	\N	\N	EFO	3	EFO	disease	adrenocortical adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003104	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	2999516	\N	\N	EFO	5	EFO	disposition	adrenocortical adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003104	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	4132617	\N	\N	EFO	6	EFO	material property	adrenocortical adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003104	"Adrenocortical adenomas are benign tumors of the adrenal cortex." []	5180952	\N	\N	EFO	7	EFO	experimental factor	adrenocortical adenoma
EFO:0003105	\N	\N	"A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." []	EFO:0003105	"A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." []	65716	\N	\N	EFO	0	EFO	spina bifida	spina bifida
EFO:0000508	EFO:0003105	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0003105	"A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." []	206896	\N	\N	EFO	1	EFO	genetic disorder	spina bifida
EFO:0000618	EFO:0003105	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003105	"A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." []	206897	\N	\N	EFO	1	EFO	nervous system disease	spina bifida
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003105	"A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." []	559992	\N	\N	EFO	2	EFO	disease	spina bifida
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003105	"A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." []	559993	\N	\N	EFO	2	EFO	disease	spina bifida
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003105	"A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." []	1141873	\N	\N	EFO	3	EFO	disposition	spina bifida
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003105	"A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." []	2024767	\N	\N	EFO	4	EFO	material property	spina bifida
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003105	"A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." []	3177682	\N	\N	EFO	5	EFO	experimental factor	spina bifida
EFO:0003106	\N	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:0003106	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	65717	\N	\N	EFO	0	EFO	pneumonia	pneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:0003106	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	206898	\N	\N	EFO	1	EFO	lung disease	pneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:0003106	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	206899	\N	\N	EFO	1	EFO	infectious disease	pneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0003106	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	559994	\N	\N	EFO	2	EFO	respiratory system disease	pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003106	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	559995	\N	\N	EFO	2	EFO	disease	pneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003106	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	1141874	\N	\N	EFO	3	EFO	disease	pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003106	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	2024768	\N	\N	EFO	4	EFO	disposition	pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003106	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	2999517	\N	\N	EFO	5	EFO	material property	pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003106	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	4132618	\N	\N	EFO	6	EFO	experimental factor	pneumonia
EFO:0003108	\N	\N	"A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms." []	EFO:0003108	"A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms." []	65718	\N	\N	EFO	0	EFO	essential tremor	essential tremor
HP:0000707	\N	\N	"An abnormality of the nervous system." [HPO:probinson]	EFO:0003108	"A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms." []	194591	\N	\N	EFO	0	EFO	Abnormality of the nervous system	essential tremor
EFO:0003110	\N	\N	"Inflammatory process that involves the chorionic villi (villitis) of the placenta." []	EFO:0003110	"Inflammatory process that involves the chorionic villi (villitis) of the placenta." []	65719	\N	\N	EFO	0	EFO	villitis	villitis
EFO:0000512	EFO:0003110	\N	"any diease of the reproductive system" []	EFO:0003110	"Inflammatory process that involves the chorionic villi (villitis) of the placenta." []	206900	\N	\N	EFO	1	EFO	reproductive system disease	villitis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003110	"Inflammatory process that involves the chorionic villi (villitis) of the placenta." []	559996	\N	\N	EFO	2	EFO	disease	villitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003110	"Inflammatory process that involves the chorionic villi (villitis) of the placenta." []	1141876	\N	\N	EFO	3	EFO	disposition	villitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003110	"Inflammatory process that involves the chorionic villi (villitis) of the placenta." []	2024770	\N	\N	EFO	4	EFO	material property	villitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003110	"Inflammatory process that involves the chorionic villi (villitis) of the placenta." []	3177684	\N	\N	EFO	5	EFO	experimental factor	villitis
EFO:0003114	\N	\N	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	65720	\N	\N	EFO	0	EFO	pauciarticular juvenile rheumatoid arthritis	pauciarticular juvenile rheumatoid arthritis
EFO:0002609	EFO:0003114	\N	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	206901	\N	\N	EFO	1	EFO	chronic childhood arthritis	pauciarticular juvenile rheumatoid arthritis
EFO:0000685	EFO:0002609	\N	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	559997	\N	\N	EFO	2	EFO	rheumatoid arthritis	pauciarticular juvenile rheumatoid arthritis
EFO:0005856	EFO:0000685	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	1141877	\N	\N	EFO	3	EFO	arthritis	pauciarticular juvenile rheumatoid arthritis
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	2024771	\N	\N	EFO	4	EFO	autoimmune disease	pauciarticular juvenile rheumatoid arthritis
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	2024772	\N	\N	EFO	4	EFO	rheumatic disease	pauciarticular juvenile rheumatoid arthritis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	3177685	\N	\N	EFO	5	EFO	immune system disease	pauciarticular juvenile rheumatoid arthritis
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	3177686	\N	\N	EFO	5	EFO	skeletal system disease	pauciarticular juvenile rheumatoid arthritis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	4387861	\N	\N	EFO	6	EFO	disease	pauciarticular juvenile rheumatoid arthritis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	4387862	\N	\N	EFO	6	EFO	disease	pauciarticular juvenile rheumatoid arthritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	5408651	\N	\N	EFO	7	EFO	disposition	pauciarticular juvenile rheumatoid arthritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	6147450	\N	\N	EFO	8	EFO	material property	pauciarticular juvenile rheumatoid arthritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003114	"A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." []	6631854	\N	\N	EFO	9	EFO	experimental factor	pauciarticular juvenile rheumatoid arthritis
EFO:0003115	\N	\N	"" []	EFO:0003115	"" []	65721	\N	\N	EFO	0	EFO	EBC-1	EBC-1
EFO:0002888	EFO:0003115	\N	"" []	EFO:0003115	"" []	206902	\N	\N	EFO	1	EFO	Homo sapiens cell line	EBC-1
EFO:0002934	EFO:0003115	\N	"" []	EFO:0003115	"" []	206903	\N	\N	EFO	1	EFO	lung cancer cell line	EBC-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003115	"" []	559998	\N	\N	EFO	2	EFO	cell line	EBC-1
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003115	"" []	559999	\N	\N	EFO	2	EFO	cancer cell line	EBC-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003115	"" []	2024774	\N	\N	EFO	4	EFO	material entity	EBC-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003115	"" []	1141879	\N	\N	EFO	3	EFO	cell line	EBC-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003115	"" []	2999518	\N	\N	EFO	5	EFO	experimental factor	EBC-1
EFO:0003116	\N	\N	"" []	EFO:0003116	"" []	65722	\N	\N	EFO	0	EFO	NCI-H125	NCI-H125
EFO:0002888	EFO:0003116	\N	"" []	EFO:0003116	"" []	206904	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H125
EFO:0002934	EFO:0003116	\N	"" []	EFO:0003116	"" []	206905	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H125
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003116	"" []	560000	\N	\N	EFO	2	EFO	cell line	NCI-H125
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003116	"" []	560001	\N	\N	EFO	2	EFO	cancer cell line	NCI-H125
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003116	"" []	2024776	\N	\N	EFO	4	EFO	material entity	NCI-H125
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003116	"" []	1141881	\N	\N	EFO	3	EFO	cell line	NCI-H125
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003116	"" []	2999519	\N	\N	EFO	5	EFO	experimental factor	NCI-H125
EFO:0003117	\N	\N	"" []	EFO:0003117	"" []	65723	\N	\N	EFO	0	EFO	NCI-H1334	NCI-H1334
EFO:0002888	EFO:0003117	\N	"" []	EFO:0003117	"" []	206906	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1334
EFO:0002934	EFO:0003117	\N	"" []	EFO:0003117	"" []	206907	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1334
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003117	"" []	560002	\N	\N	EFO	2	EFO	cell line	NCI-H1334
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003117	"" []	560003	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1334
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003117	"" []	2024778	\N	\N	EFO	4	EFO	material entity	NCI-H1334
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003117	"" []	1141883	\N	\N	EFO	3	EFO	cell line	NCI-H1334
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003117	"" []	2999520	\N	\N	EFO	5	EFO	experimental factor	NCI-H1334
EFO:0003118	\N	\N	"" []	EFO:0003118	"" []	65724	\N	\N	EFO	0	EFO	NCI-H157	NCI-H157
EFO:0002888	EFO:0003118	\N	"" []	EFO:0003118	"" []	206908	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H157
EFO:0002934	EFO:0003118	\N	"" []	EFO:0003118	"" []	206909	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H157
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003118	"" []	560004	\N	\N	EFO	2	EFO	cell line	NCI-H157
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003118	"" []	560005	\N	\N	EFO	2	EFO	cancer cell line	NCI-H157
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003118	"" []	2024780	\N	\N	EFO	4	EFO	material entity	NCI-H157
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003118	"" []	1141885	\N	\N	EFO	3	EFO	cell line	NCI-H157
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003118	"" []	2999521	\N	\N	EFO	5	EFO	experimental factor	NCI-H157
EFO:0003119	\N	\N	"" []	EFO:0003119	"" []	65725	\N	\N	EFO	0	EFO	NCI-H1648	NCI-H1648
EFO:0002888	EFO:0003119	\N	"" []	EFO:0003119	"" []	206910	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1648
EFO:0002934	EFO:0003119	\N	"" []	EFO:0003119	"" []	206911	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1648
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003119	"" []	560006	\N	\N	EFO	2	EFO	cell line	NCI-H1648
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003119	"" []	560007	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1648
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003119	"" []	2024782	\N	\N	EFO	4	EFO	material entity	NCI-H1648
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003119	"" []	1141887	\N	\N	EFO	3	EFO	cell line	NCI-H1648
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003119	"" []	2999522	\N	\N	EFO	5	EFO	experimental factor	NCI-H1648
EFO:0003120	\N	\N	"" []	EFO:0003120	"" []	65726	\N	\N	EFO	0	EFO	NCI-H2279	NCI-H2279
EFO:0002888	EFO:0003120	\N	"" []	EFO:0003120	"" []	206912	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2279
EFO:0002934	EFO:0003120	\N	"" []	EFO:0003120	"" []	206913	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2279
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003120	"" []	560008	\N	\N	EFO	2	EFO	cell line	NCI-H2279
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003120	"" []	560009	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2279
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003120	"" []	2024784	\N	\N	EFO	4	EFO	material entity	NCI-H2279
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003120	"" []	1141889	\N	\N	EFO	3	EFO	cell line	NCI-H2279
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003120	"" []	2999523	\N	\N	EFO	5	EFO	experimental factor	NCI-H2279
EFO:0003121	\N	\N	"" []	EFO:0003121	"" []	65727	\N	\N	EFO	0	EFO	NCI-H2882	NCI-H2882
EFO:0002888	EFO:0003121	\N	"" []	EFO:0003121	"" []	206914	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2882
EFO:0002934	EFO:0003121	\N	"" []	EFO:0003121	"" []	206915	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2882
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003121	"" []	560010	\N	\N	EFO	2	EFO	cell line	NCI-H2882
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003121	"" []	560011	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2882
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003121	"" []	2024786	\N	\N	EFO	4	EFO	material entity	NCI-H2882
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003121	"" []	1141891	\N	\N	EFO	3	EFO	cell line	NCI-H2882
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003121	"" []	2999524	\N	\N	EFO	5	EFO	experimental factor	NCI-H2882
EFO:0003122	\N	\N	"" []	EFO:0003122	"" []	65728	\N	\N	EFO	0	EFO	NCI-H2287	NCI-H2287
EFO:0002888	EFO:0003122	\N	"" []	EFO:0003122	"" []	206916	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2287
EFO:0002934	EFO:0003122	\N	"" []	EFO:0003122	"" []	206917	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2287
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003122	"" []	560012	\N	\N	EFO	2	EFO	cell line	NCI-H2287
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003122	"" []	560013	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2287
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003122	"" []	2024788	\N	\N	EFO	4	EFO	material entity	NCI-H2287
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003122	"" []	1141893	\N	\N	EFO	3	EFO	cell line	NCI-H2287
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003122	"" []	2999525	\N	\N	EFO	5	EFO	experimental factor	NCI-H2287
EFO:0003123	\N	\N	"" []	EFO:0003123	"" []	65729	\N	\N	EFO	0	EFO	NCI-H3255	NCI-H3255
EFO:0002888	EFO:0003123	\N	"" []	EFO:0003123	"" []	206918	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H3255
EFO:0002934	EFO:0003123	\N	"" []	EFO:0003123	"" []	206919	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H3255
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003123	"" []	560014	\N	\N	EFO	2	EFO	cell line	NCI-H3255
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003123	"" []	560015	\N	\N	EFO	2	EFO	cancer cell line	NCI-H3255
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003123	"" []	2024790	\N	\N	EFO	4	EFO	material entity	NCI-H3255
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003123	"" []	1141895	\N	\N	EFO	3	EFO	cell line	NCI-H3255
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003123	"" []	2999526	\N	\N	EFO	5	EFO	experimental factor	NCI-H3255
EFO:0003124	\N	\N	"" []	EFO:0003124	"" []	65730	\N	\N	EFO	0	EFO	NCI-H520	NCI-H520
EFO:0001641	EFO:0003124	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0003124	"" []	206920	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H520
EFO:0002888	EFO:0003124	\N	"" []	EFO:0003124	"" []	206921	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H520
EFO:0002934	EFO:0003124	\N	"" []	EFO:0003124	"" []	206922	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H520
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003124	"" []	560016	\N	\N	EFO	2	EFO	cell line	NCI-H520
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003124	"" []	560017	\N	\N	EFO	2	EFO	cell line	NCI-H520
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003124	"" []	560018	\N	\N	EFO	2	EFO	cancer cell line	NCI-H520
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003124	"" []	2024792	\N	\N	EFO	4	EFO	material entity	NCI-H520
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003124	"" []	1141897	\N	\N	EFO	3	EFO	cell line	NCI-H520
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003124	"" []	2999527	\N	\N	EFO	5	EFO	experimental factor	NCI-H520
EFO:0003125	\N	\N	"" []	EFO:0003125	"" []	65731	\N	\N	EFO	0	EFO	NCI-H820	NCI-H820
EFO:0001641	EFO:0003125	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0003125	"" []	206923	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H820
EFO:0002888	EFO:0003125	\N	"" []	EFO:0003125	"" []	206924	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H820
EFO:0002934	EFO:0003125	\N	"" []	EFO:0003125	"" []	206925	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H820
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003125	"" []	560019	\N	\N	EFO	2	EFO	cell line	NCI-H820
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003125	"" []	560020	\N	\N	EFO	2	EFO	cell line	NCI-H820
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003125	"" []	560021	\N	\N	EFO	2	EFO	cancer cell line	NCI-H820
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003125	"" []	2024794	\N	\N	EFO	4	EFO	material entity	NCI-H820
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003125	"" []	1141899	\N	\N	EFO	3	EFO	cell line	NCI-H820
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003125	"" []	2999528	\N	\N	EFO	5	EFO	experimental factor	NCI-H820
EFO:0003126	\N	\N	"" []	EFO:0003126	"" []	65732	\N	\N	EFO	0	EFO	HCC1171	HCC1171
EFO:0002888	EFO:0003126	\N	"" []	EFO:0003126	"" []	206926	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1171
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003126	"" []	560022	\N	\N	EFO	2	EFO	cell line	HCC1171
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003126	"" []	1141900	\N	\N	EFO	3	EFO	material entity	HCC1171
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003126	"" []	2024795	\N	\N	EFO	4	EFO	experimental factor	HCC1171
EFO:0003127	\N	\N	"" []	EFO:0003127	"" []	65733	\N	\N	EFO	0	EFO	HCC1159	HCC1159
EFO:0002888	EFO:0003127	\N	"" []	EFO:0003127	"" []	206927	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1159
EFO:0002934	EFO:0003127	\N	"" []	EFO:0003127	"" []	206928	\N	\N	EFO	1	EFO	lung cancer cell line	HCC1159
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003127	"" []	560023	\N	\N	EFO	2	EFO	cell line	HCC1159
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003127	"" []	560024	\N	\N	EFO	2	EFO	cancer cell line	HCC1159
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003127	"" []	2024797	\N	\N	EFO	4	EFO	material entity	HCC1159
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003127	"" []	1141902	\N	\N	EFO	3	EFO	cell line	HCC1159
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003127	"" []	2999529	\N	\N	EFO	5	EFO	experimental factor	HCC1159
EFO:0003128	\N	\N	"" []	EFO:0003128	"" []	65734	\N	\N	EFO	0	EFO	HCC1359	HCC1359
EFO:0002888	EFO:0003128	\N	"" []	EFO:0003128	"" []	206929	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1359
EFO:0002934	EFO:0003128	\N	"" []	EFO:0003128	"" []	206930	\N	\N	EFO	1	EFO	lung cancer cell line	HCC1359
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003128	"" []	560025	\N	\N	EFO	2	EFO	cell line	HCC1359
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003128	"" []	560026	\N	\N	EFO	2	EFO	cancer cell line	HCC1359
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003128	"" []	2024799	\N	\N	EFO	4	EFO	material entity	HCC1359
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003128	"" []	1141904	\N	\N	EFO	3	EFO	cell line	HCC1359
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003128	"" []	2999530	\N	\N	EFO	5	EFO	experimental factor	HCC1359
EFO:0003129	\N	\N	"" []	EFO:0003129	"" []	65735	\N	\N	EFO	0	EFO	HCC15	HCC15
EFO:0002888	EFO:0003129	\N	"" []	EFO:0003129	"" []	206931	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC15
EFO:0002934	EFO:0003129	\N	"" []	EFO:0003129	"" []	206932	\N	\N	EFO	1	EFO	lung cancer cell line	HCC15
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003129	"" []	560027	\N	\N	EFO	2	EFO	cell line	HCC15
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003129	"" []	560028	\N	\N	EFO	2	EFO	cancer cell line	HCC15
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003129	"" []	2024801	\N	\N	EFO	4	EFO	material entity	HCC15
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003129	"" []	1141906	\N	\N	EFO	3	EFO	cell line	HCC15
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003129	"" []	2999531	\N	\N	EFO	5	EFO	experimental factor	HCC15
EFO:0003130	\N	\N	"" []	EFO:0003130	"" []	65736	\N	\N	EFO	0	EFO	HCC193	HCC193
EFO:0002888	EFO:0003130	\N	"" []	EFO:0003130	"" []	206933	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC193
EFO:0002934	EFO:0003130	\N	"" []	EFO:0003130	"" []	206934	\N	\N	EFO	1	EFO	lung cancer cell line	HCC193
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003130	"" []	560029	\N	\N	EFO	2	EFO	cell line	HCC193
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003130	"" []	560030	\N	\N	EFO	2	EFO	cancer cell line	HCC193
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003130	"" []	2024803	\N	\N	EFO	4	EFO	material entity	HCC193
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003130	"" []	1141908	\N	\N	EFO	3	EFO	cell line	HCC193
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003130	"" []	2999532	\N	\N	EFO	5	EFO	experimental factor	HCC193
EFO:0003131	\N	\N	"" []	EFO:0003131	"" []	65737	\N	\N	EFO	0	EFO	HCC366	HCC366
EFO:0002888	EFO:0003131	\N	"" []	EFO:0003131	"" []	206935	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC366
EFO:0002934	EFO:0003131	\N	"" []	EFO:0003131	"" []	206936	\N	\N	EFO	1	EFO	lung cancer cell line	HCC366
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003131	"" []	560031	\N	\N	EFO	2	EFO	cell line	HCC366
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003131	"" []	560032	\N	\N	EFO	2	EFO	cancer cell line	HCC366
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003131	"" []	2024805	\N	\N	EFO	4	EFO	material entity	HCC366
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003131	"" []	1141910	\N	\N	EFO	3	EFO	cell line	HCC366
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003131	"" []	2999533	\N	\N	EFO	5	EFO	experimental factor	HCC366
EFO:0003132	\N	\N	"" []	EFO:0003132	"" []	65738	\N	\N	EFO	0	EFO	HCC4006	HCC4006
EFO:0002888	EFO:0003132	\N	"" []	EFO:0003132	"" []	206937	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC4006
EFO:0002934	EFO:0003132	\N	"" []	EFO:0003132	"" []	206938	\N	\N	EFO	1	EFO	lung cancer cell line	HCC4006
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003132	"" []	560033	\N	\N	EFO	2	EFO	cell line	HCC4006
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003132	"" []	560034	\N	\N	EFO	2	EFO	cancer cell line	HCC4006
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003132	"" []	2024807	\N	\N	EFO	4	EFO	material entity	HCC4006
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003132	"" []	1141912	\N	\N	EFO	3	EFO	cell line	HCC4006
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003132	"" []	2999534	\N	\N	EFO	5	EFO	experimental factor	HCC4006
EFO:0003133	\N	\N	"" []	EFO:0003133	"" []	65739	\N	\N	EFO	0	EFO	HCC44	HCC44
EFO:0002888	EFO:0003133	\N	"" []	EFO:0003133	"" []	206939	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC44
EFO:0002934	EFO:0003133	\N	"" []	EFO:0003133	"" []	206940	\N	\N	EFO	1	EFO	lung cancer cell line	HCC44
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003133	"" []	560035	\N	\N	EFO	2	EFO	cell line	HCC44
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003133	"" []	560036	\N	\N	EFO	2	EFO	cancer cell line	HCC44
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003133	"" []	2024809	\N	\N	EFO	4	EFO	material entity	HCC44
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003133	"" []	1141914	\N	\N	EFO	3	EFO	cell line	HCC44
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003133	"" []	2999535	\N	\N	EFO	5	EFO	experimental factor	HCC44
EFO:0003134	\N	\N	"" []	EFO:0003134	"" []	65740	\N	\N	EFO	0	EFO	HCC461	HCC461
EFO:0002888	EFO:0003134	\N	"" []	EFO:0003134	"" []	206941	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC461
EFO:0002934	EFO:0003134	\N	"" []	EFO:0003134	"" []	206942	\N	\N	EFO	1	EFO	lung cancer cell line	HCC461
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003134	"" []	560037	\N	\N	EFO	2	EFO	cell line	HCC461
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003134	"" []	560038	\N	\N	EFO	2	EFO	cancer cell line	HCC461
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003134	"" []	2024811	\N	\N	EFO	4	EFO	material entity	HCC461
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003134	"" []	1141916	\N	\N	EFO	3	EFO	cell line	HCC461
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003134	"" []	2999536	\N	\N	EFO	5	EFO	experimental factor	HCC461
EFO:0003135	\N	\N	"" []	EFO:0003135	"" []	65741	\N	\N	EFO	0	EFO	HCC515	HCC515
EFO:0002888	EFO:0003135	\N	"" []	EFO:0003135	"" []	206943	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC515
EFO:0002934	EFO:0003135	\N	"" []	EFO:0003135	"" []	206944	\N	\N	EFO	1	EFO	lung cancer cell line	HCC515
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003135	"" []	560039	\N	\N	EFO	2	EFO	cell line	HCC515
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003135	"" []	560040	\N	\N	EFO	2	EFO	cancer cell line	HCC515
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003135	"" []	2024813	\N	\N	EFO	4	EFO	material entity	HCC515
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003135	"" []	1141918	\N	\N	EFO	3	EFO	cell line	HCC515
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003135	"" []	2999537	\N	\N	EFO	5	EFO	experimental factor	HCC515
EFO:0003136	\N	\N	"" []	EFO:0003136	"" []	65742	\N	\N	EFO	0	EFO	HCC78	HCC78
EFO:0002888	EFO:0003136	\N	"" []	EFO:0003136	"" []	206945	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC78
EFO:0002934	EFO:0003136	\N	"" []	EFO:0003136	"" []	206946	\N	\N	EFO	1	EFO	lung cancer cell line	HCC78
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003136	"" []	560041	\N	\N	EFO	2	EFO	cell line	HCC78
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003136	"" []	560042	\N	\N	EFO	2	EFO	cancer cell line	HCC78
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003136	"" []	2024815	\N	\N	EFO	4	EFO	material entity	HCC78
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003136	"" []	1141920	\N	\N	EFO	3	EFO	cell line	HCC78
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003136	"" []	2999538	\N	\N	EFO	5	EFO	experimental factor	HCC78
EFO:0003137	\N	\N	"" []	EFO:0003137	"" []	65743	\N	\N	EFO	0	EFO	HCC827	HCC827
EFO:0002888	EFO:0003137	\N	"" []	EFO:0003137	"" []	206947	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC827
EFO:0002934	EFO:0003137	\N	"" []	EFO:0003137	"" []	206948	\N	\N	EFO	1	EFO	lung cancer cell line	HCC827
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003137	"" []	560043	\N	\N	EFO	2	EFO	cell line	HCC827
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003137	"" []	560044	\N	\N	EFO	2	EFO	cancer cell line	HCC827
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003137	"" []	2024817	\N	\N	EFO	4	EFO	material entity	HCC827
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003137	"" []	1141922	\N	\N	EFO	3	EFO	cell line	HCC827
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003137	"" []	2999539	\N	\N	EFO	5	EFO	experimental factor	HCC827
EFO:0003138	\N	\N	"" []	EFO:0003138	"" []	65744	\N	\N	EFO	0	EFO	HCC95	HCC95
EFO:0002888	EFO:0003138	\N	"" []	EFO:0003138	"" []	206949	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC95
EFO:0002934	EFO:0003138	\N	"" []	EFO:0003138	"" []	206950	\N	\N	EFO	1	EFO	lung cancer cell line	HCC95
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003138	"" []	560045	\N	\N	EFO	2	EFO	cell line	HCC95
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003138	"" []	560046	\N	\N	EFO	2	EFO	cancer cell line	HCC95
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003138	"" []	2024819	\N	\N	EFO	4	EFO	material entity	HCC95
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003138	"" []	1141924	\N	\N	EFO	3	EFO	cell line	HCC95
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003138	"" []	2999540	\N	\N	EFO	5	EFO	experimental factor	HCC95
EFO:0003139	\N	\N	"" []	EFO:0003139	"" []	65745	\N	\N	EFO	0	EFO	HCjE	HCjE
EFO:0001641	EFO:0003139	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0003139	"" []	206951	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCjE
EFO:0002888	EFO:0003139	\N	"" []	EFO:0003139	"" []	206952	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCjE
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003139	"" []	560047	\N	\N	EFO	2	EFO	cell line	HCjE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003139	"" []	560048	\N	\N	EFO	2	EFO	cell line	HCjE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003139	"" []	1141925	\N	\N	EFO	3	EFO	material entity	HCjE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003139	"" []	2024820	\N	\N	EFO	4	EFO	experimental factor	HCjE
EFO:0003140	\N	\N	"" []	EFO:0003140	"" []	65746	\N	\N	EFO	0	EFO	LC2/AD	LC2/AD
EFO:0002888	EFO:0003140	\N	"" []	EFO:0003140	"" []	206953	\N	\N	EFO	1	EFO	Homo sapiens cell line	LC2/AD
EFO:0002934	EFO:0003140	\N	"" []	EFO:0003140	"" []	206954	\N	\N	EFO	1	EFO	lung cancer cell line	LC2/AD
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003140	"" []	560049	\N	\N	EFO	2	EFO	cell line	LC2/AD
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003140	"" []	560050	\N	\N	EFO	2	EFO	cancer cell line	LC2/AD
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003140	"" []	2024822	\N	\N	EFO	4	EFO	material entity	LC2/AD
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003140	"" []	1141927	\N	\N	EFO	3	EFO	cell line	LC2/AD
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003140	"" []	2999541	\N	\N	EFO	5	EFO	experimental factor	LC2/AD
EFO:0003141	\N	\N	"" []	EFO:0003141	"" []	65747	\N	\N	EFO	0	EFO	LK-2	LK-2
EFO:0002888	EFO:0003141	\N	"" []	EFO:0003141	"" []	206955	\N	\N	EFO	1	EFO	Homo sapiens cell line	LK-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003141	"" []	560051	\N	\N	EFO	2	EFO	cell line	LK-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003141	"" []	1141928	\N	\N	EFO	3	EFO	material entity	LK-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003141	"" []	2024823	\N	\N	EFO	4	EFO	experimental factor	LK-2
EFO:0003142	\N	\N	"" []	EFO:0003142	"" []	65748	\N	\N	EFO	0	EFO	Lu130	Lu130
EFO:0002888	EFO:0003142	\N	"" []	EFO:0003142	"" []	206956	\N	\N	EFO	1	EFO	Homo sapiens cell line	Lu130
EFO:0002934	EFO:0003142	\N	"" []	EFO:0003142	"" []	206957	\N	\N	EFO	1	EFO	lung cancer cell line	Lu130
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003142	"" []	560052	\N	\N	EFO	2	EFO	cell line	Lu130
EFO:0001639	EFO:0002934	\N	"" []	EFO:0003142	"" []	560053	\N	\N	EFO	2	EFO	cancer cell line	Lu130
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003142	"" []	2024825	\N	\N	EFO	4	EFO	material entity	Lu130
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003142	"" []	1141930	\N	\N	EFO	3	EFO	cell line	Lu130
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003142	"" []	2999542	\N	\N	EFO	5	EFO	experimental factor	Lu130
EFO:0003143	\N	\N	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	65749	\N	\N	EFO	0	EFO	CLIP-seq	CLIP-seq
EFO:0001457	EFO:0003143	\N	"An assay with input RNA" []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	206958	\N	\N	EFO	1	EFO	RNA assay	CLIP-seq
EFO:0005032	EFO:0003143	\N	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	206959	\N	\N	EFO	1	EFO	IP-seq	CLIP-seq
EFO:0002772	EFO:0001457	\N	"" []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	560054	\N	\N	EFO	2	EFO	assay by molecule	CLIP-seq
EFO:0002697	EFO:0005032	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	560055	\N	\N	EFO	2	EFO	assay by high throughput sequencer	CLIP-seq
EFO:0004120	EFO:0005032	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	560056	\N	\N	EFO	2	EFO	ArrayExpress experiment type	CLIP-seq
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	1141931	\N	\N	EFO	3	EFO	assay	CLIP-seq
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	1141932	\N	\N	EFO	3	EFO	assay by sequencer	CLIP-seq
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	1141933	\N	\N	EFO	3	EFO	experimental process	CLIP-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	4387863	\N	\N	EFO	6	EFO	experimental process	CLIP-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	2024827	\N	\N	EFO	4	EFO	assay by instrument	CLIP-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	5059341	\N	\N	EFO	7	EFO	planned process	CLIP-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	3177688	\N	\N	EFO	5	EFO	assay	CLIP-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	5817360	\N	\N	EFO	8	EFO	process	CLIP-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003143	"CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein." []	6409742	\N	\N	EFO	9	EFO	experimental factor	CLIP-seq
EFO:0003144	\N	\N	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	EFO:0003144	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	65750	\N	\N	EFO	0	EFO	heart failure	heart failure
EFO:0003777	EFO:0003144	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0003144	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	206960	\N	\N	EFO	1	EFO	heart disease	heart failure
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003144	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	560057	\N	\N	EFO	2	EFO	cardiovascular disease	heart failure
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003144	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	1141934	\N	\N	EFO	3	EFO	disease	heart failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003144	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	2024829	\N	\N	EFO	4	EFO	disposition	heart failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003144	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	3177690	\N	\N	EFO	5	EFO	material property	heart failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003144	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	4387865	\N	\N	EFO	6	EFO	experimental factor	heart failure
EFO:0003145	\N	\N	"High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." []	EFO:0003145	"High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." []	65751	\N	\N	EFO	0	EFO	high output heart failure	high output heart failure
EFO:0003144	EFO:0003145	\N	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	EFO:0003145	"High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." []	206961	\N	\N	EFO	1	EFO	heart failure	high output heart failure
EFO:0003777	EFO:0003144	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0003145	"High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." []	560058	\N	\N	EFO	2	EFO	heart disease	high output heart failure
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003145	"High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." []	1141935	\N	\N	EFO	3	EFO	cardiovascular disease	high output heart failure
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003145	"High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." []	2024830	\N	\N	EFO	4	EFO	disease	high output heart failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003145	"High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." []	3177691	\N	\N	EFO	5	EFO	disposition	high output heart failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003145	"High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." []	4387866	\N	\N	EFO	6	EFO	material property	high output heart failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003145	"High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." []	5408652	\N	\N	EFO	7	EFO	experimental factor	high output heart failure
EFO:0003146	\N	\N	"A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise etc" []	EFO:0003146	"A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise etc" []	65752	\N	\N	EFO	0	EFO	symptomatic heart failure	symptomatic heart failure
EFO:0003144	EFO:0003146	\N	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	EFO:0003146	"A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise etc" []	206962	\N	\N	EFO	1	EFO	heart failure	symptomatic heart failure
EFO:0003777	EFO:0003144	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0003146	"A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise etc" []	560059	\N	\N	EFO	2	EFO	heart disease	symptomatic heart failure
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003146	"A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise etc" []	1141936	\N	\N	EFO	3	EFO	cardiovascular disease	symptomatic heart failure
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003146	"A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise etc" []	2024831	\N	\N	EFO	4	EFO	disease	symptomatic heart failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003146	"A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise etc" []	3177692	\N	\N	EFO	5	EFO	disposition	symptomatic heart failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003146	"A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise etc" []	4387867	\N	\N	EFO	6	EFO	material property	symptomatic heart failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003146	"A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise etc" []	5408653	\N	\N	EFO	7	EFO	experimental factor	symptomatic heart failure
EFO:0003147	\N	\N	"Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." []	EFO:0003147	"Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." []	65753	\N	\N	EFO	0	EFO	mild heart failure	mild heart failure
EFO:0003146	EFO:0003147	\N	"A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise etc" []	EFO:0003147	"Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." []	206963	\N	\N	EFO	1	EFO	symptomatic heart failure	mild heart failure
EFO:0003144	EFO:0003146	\N	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	EFO:0003147	"Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." []	560060	\N	\N	EFO	2	EFO	heart failure	mild heart failure
EFO:0003777	EFO:0003144	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0003147	"Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." []	1141937	\N	\N	EFO	3	EFO	heart disease	mild heart failure
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003147	"Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." []	2024832	\N	\N	EFO	4	EFO	cardiovascular disease	mild heart failure
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003147	"Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." []	3177693	\N	\N	EFO	5	EFO	disease	mild heart failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003147	"Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." []	4387868	\N	\N	EFO	6	EFO	disposition	mild heart failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003147	"Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." []	5408654	\N	\N	EFO	7	EFO	material property	mild heart failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003147	"Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." []	6147451	\N	\N	EFO	8	EFO	experimental factor	mild heart failure
EFO:0003148	\N	\N	"Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20100 m). Patients with moderate heart failure are comfortable only at rest." []	EFO:0003148	"Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20100 m). Patients with moderate heart failure are comfortable only at rest." []	65754	\N	\N	EFO	0	EFO	moderate heart failure	moderate heart failure
EFO:0003146	EFO:0003148	\N	"A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise etc" []	EFO:0003148	"Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20100 m). Patients with moderate heart failure are comfortable only at rest." []	206964	\N	\N	EFO	1	EFO	symptomatic heart failure	moderate heart failure
EFO:0003144	EFO:0003146	\N	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	EFO:0003148	"Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20100 m). Patients with moderate heart failure are comfortable only at rest." []	560061	\N	\N	EFO	2	EFO	heart failure	moderate heart failure
EFO:0003777	EFO:0003144	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0003148	"Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20100 m). Patients with moderate heart failure are comfortable only at rest." []	1141938	\N	\N	EFO	3	EFO	heart disease	moderate heart failure
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003148	"Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20100 m). Patients with moderate heart failure are comfortable only at rest." []	2024833	\N	\N	EFO	4	EFO	cardiovascular disease	moderate heart failure
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003148	"Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20100 m). Patients with moderate heart failure are comfortable only at rest." []	3177694	\N	\N	EFO	5	EFO	disease	moderate heart failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003148	"Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20100 m). Patients with moderate heart failure are comfortable only at rest." []	4387869	\N	\N	EFO	6	EFO	disposition	moderate heart failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003148	"Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20100 m). Patients with moderate heart failure are comfortable only at rest." []	5408655	\N	\N	EFO	7	EFO	material property	moderate heart failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003148	"Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20100 m). Patients with moderate heart failure are comfortable only at rest." []	6147452	\N	\N	EFO	8	EFO	experimental factor	moderate heart failure
EFO:0003149	\N	\N	"Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." []	EFO:0003149	"Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." []	65755	\N	\N	EFO	0	EFO	advanced heart failure	advanced heart failure
EFO:0003146	EFO:0003149	\N	"A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise etc" []	EFO:0003149	"Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." []	206965	\N	\N	EFO	1	EFO	symptomatic heart failure	advanced heart failure
EFO:0003144	EFO:0003146	\N	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	EFO:0003149	"Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." []	560062	\N	\N	EFO	2	EFO	heart failure	advanced heart failure
EFO:0003777	EFO:0003144	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0003149	"Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." []	1141939	\N	\N	EFO	3	EFO	heart disease	advanced heart failure
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003149	"Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." []	2024834	\N	\N	EFO	4	EFO	cardiovascular disease	advanced heart failure
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003149	"Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." []	3177695	\N	\N	EFO	5	EFO	disease	advanced heart failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003149	"Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." []	4387870	\N	\N	EFO	6	EFO	disposition	advanced heart failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003149	"Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." []	5408656	\N	\N	EFO	7	EFO	material property	advanced heart failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003149	"Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." []	6147453	\N	\N	EFO	8	EFO	experimental factor	advanced heart failure
EFO:0003150	\N	\N	"A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described." []	EFO:0003150	"A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described." []	65756	\N	\N	EFO	0	EFO	African American	African American
EFO:0001799	EFO:0003150	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003150	"A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described." []	206966	\N	\N	EFO	1	EFO	ethnic group	African American
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003150	"A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described." []	560063	\N	\N	EFO	2	EFO	population	African American
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003150	"A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described." []	1141940	\N	\N	EFO	3	EFO	material entity	African American
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003150	"A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described." []	2024835	\N	\N	EFO	4	EFO	experimental factor	African American
EFO:0003151	\N	\N	"" []	EFO:0003151	"" []	65757	\N	\N	EFO	0	EFO	American	American
EFO:0001799	EFO:0003151	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003151	"" []	206967	\N	\N	EFO	1	EFO	ethnic group	American
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003151	"" []	560064	\N	\N	EFO	2	EFO	population	American
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003151	"" []	1141941	\N	\N	EFO	3	EFO	material entity	American
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003151	"" []	2024836	\N	\N	EFO	4	EFO	experimental factor	American
EFO:0003152	\N	\N	"Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam." []	EFO:0003152	"Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam." []	65758	\N	\N	EFO	0	EFO	Asian	Asian
EFO:0001799	EFO:0003152	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003152	"Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam." []	206968	\N	\N	EFO	1	EFO	ethnic group	Asian
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003152	"Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam." []	560065	\N	\N	EFO	2	EFO	population	Asian
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003152	"Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam." []	1141942	\N	\N	EFO	3	EFO	material entity	Asian
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003152	"Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam." []	2024837	\N	\N	EFO	4	EFO	experimental factor	Asian
EFO:0003153	\N	\N	"In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans." []	EFO:0003153	"In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans." []	65759	\N	\N	EFO	0	EFO	Asian Indian	Asian Indian
EFO:0001799	EFO:0003153	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003153	"In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans." []	206969	\N	\N	EFO	1	EFO	ethnic group	Asian Indian
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003153	"In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans." []	560066	\N	\N	EFO	2	EFO	population	Asian Indian
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003153	"In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans." []	1141943	\N	\N	EFO	3	EFO	material entity	Asian Indian
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003153	"In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans." []	2024838	\N	\N	EFO	4	EFO	experimental factor	Asian Indian
EFO:0003154	\N	\N	"Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified." []	EFO:0003154	"Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified." []	65760	\N	\N	EFO	0	EFO	Asian/Pacific Islander	Asian/Pacific Islander
EFO:0001799	EFO:0003154	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003154	"Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified." []	206970	\N	\N	EFO	1	EFO	ethnic group	Asian/Pacific Islander
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003154	"Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified." []	560067	\N	\N	EFO	2	EFO	population	Asian/Pacific Islander
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003154	"Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified." []	1141944	\N	\N	EFO	3	EFO	material entity	Asian/Pacific Islander
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003154	"Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified." []	2024839	\N	\N	EFO	4	EFO	experimental factor	Asian/Pacific Islander
EFO:0003155	\N	\N	"" []	EFO:0003155	"" []	65761	\N	\N	EFO	0	EFO	British	British
EFO:0001799	EFO:0003155	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003155	"" []	206971	\N	\N	EFO	1	EFO	ethnic group	British
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003155	"" []	560068	\N	\N	EFO	2	EFO	population	British
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003155	"" []	1141945	\N	\N	EFO	3	EFO	material entity	British
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003155	"" []	2024840	\N	\N	EFO	4	EFO	experimental factor	British
EFO:0003156	\N	\N	"Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White." []	EFO:0003156	"Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White." []	65762	\N	\N	EFO	0	EFO	Caucasian	Caucasian
EFO:0001799	EFO:0003156	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003156	"Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White." []	206972	\N	\N	EFO	1	EFO	ethnic group	Caucasian
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003156	"Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White." []	560069	\N	\N	EFO	2	EFO	population	Caucasian
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003156	"Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White." []	1141946	\N	\N	EFO	3	EFO	material entity	Caucasian
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003156	"Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White." []	2024841	\N	\N	EFO	4	EFO	experimental factor	Caucasian
EFO:0003157	\N	\N	"Denotes the inhabitants of China, a person from there, or their descendants elsewhere." []	EFO:0003157	"Denotes the inhabitants of China, a person from there, or their descendants elsewhere." []	65763	\N	\N	EFO	0	EFO	Chinese	Chinese
EFO:0001799	EFO:0003157	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003157	"Denotes the inhabitants of China, a person from there, or their descendants elsewhere." []	206973	\N	\N	EFO	1	EFO	ethnic group	Chinese
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003157	"Denotes the inhabitants of China, a person from there, or their descendants elsewhere." []	560070	\N	\N	EFO	2	EFO	population	Chinese
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003157	"Denotes the inhabitants of China, a person from there, or their descendants elsewhere." []	1141947	\N	\N	EFO	3	EFO	material entity	Chinese
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003157	"Denotes the inhabitants of China, a person from there, or their descendants elsewhere." []	2024842	\N	\N	EFO	4	EFO	experimental factor	Chinese
EFO:0003158	\N	\N	"" []	EFO:0003158	"" []	65764	\N	\N	EFO	0	EFO	Eastern Indian	Eastern Indian
EFO:0001799	EFO:0003158	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003158	"" []	206974	\N	\N	EFO	1	EFO	ethnic group	Eastern Indian
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003158	"" []	560071	\N	\N	EFO	2	EFO	population	Eastern Indian
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003158	"" []	1141948	\N	\N	EFO	3	EFO	material entity	Eastern Indian
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003158	"" []	2024843	\N	\N	EFO	4	EFO	experimental factor	Eastern Indian
EFO:0003159	\N	\N	"" []	EFO:0003159	"" []	65765	\N	\N	EFO	0	EFO	European-American	European-American
EFO:0001799	EFO:0003159	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003159	"" []	206975	\N	\N	EFO	1	EFO	ethnic group	European-American
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003159	"" []	560072	\N	\N	EFO	2	EFO	population	European-American
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003159	"" []	1141949	\N	\N	EFO	3	EFO	material entity	European-American
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003159	"" []	2024844	\N	\N	EFO	4	EFO	experimental factor	European-American
EFO:0003160	\N	\N	"Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere." []	EFO:0003160	"Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere." []	65766	\N	\N	EFO	0	EFO	Filipino	Filipino
EFO:0003152	EFO:0003160	\N	"Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam." []	EFO:0003160	"Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere." []	206976	\N	\N	EFO	1	EFO	Asian	Filipino
EFO:0001799	EFO:0003152	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003160	"Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere." []	560073	\N	\N	EFO	2	EFO	ethnic group	Filipino
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003160	"Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere." []	1141950	\N	\N	EFO	3	EFO	population	Filipino
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003160	"Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere." []	2024845	\N	\N	EFO	4	EFO	material entity	Filipino
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003160	"Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere." []	3177696	\N	\N	EFO	5	EFO	experimental factor	Filipino
EFO:0003161	\N	\N	"Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)" []	EFO:0003161	"Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)" []	65767	\N	\N	EFO	0	EFO	Han Chinese	Han Chinese
EFO:0003157	EFO:0003161	\N	"Denotes the inhabitants of China, a person from there, or their descendants elsewhere." []	EFO:0003161	"Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)" []	206977	\N	\N	EFO	1	EFO	Chinese	Han Chinese
EFO:0001799	EFO:0003157	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003161	"Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)" []	560074	\N	\N	EFO	2	EFO	ethnic group	Han Chinese
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003161	"Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)" []	1141951	\N	\N	EFO	3	EFO	population	Han Chinese
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003161	"Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)" []	2024846	\N	\N	EFO	4	EFO	material entity	Han Chinese
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003161	"Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)" []	3177697	\N	\N	EFO	5	EFO	experimental factor	Han Chinese
EFO:0003162	\N	\N	"Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere." []	EFO:0003162	"Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere." []	65768	\N	\N	EFO	0	EFO	Iranian	Iranian
EFO:0001799	EFO:0003162	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003162	"Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere." []	206978	\N	\N	EFO	1	EFO	ethnic group	Iranian
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003162	"Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere." []	560075	\N	\N	EFO	2	EFO	population	Iranian
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003162	"Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere." []	1141952	\N	\N	EFO	3	EFO	material entity	Iranian
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003162	"Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere." []	2024847	\N	\N	EFO	4	EFO	experimental factor	Iranian
EFO:0003163	\N	\N	"Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere." []	EFO:0003163	"Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere." []	65769	\N	\N	EFO	0	EFO	Irish	Irish
EFO:0001799	EFO:0003163	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003163	"Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere." []	206979	\N	\N	EFO	1	EFO	ethnic group	Irish
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003163	"Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere." []	560076	\N	\N	EFO	2	EFO	population	Irish
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003163	"Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere." []	1141953	\N	\N	EFO	3	EFO	material entity	Irish
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003163	"Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere." []	2024848	\N	\N	EFO	4	EFO	experimental factor	Irish
EFO:0003164	\N	\N	"Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere." []	EFO:0003164	"Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere." []	65770	\N	\N	EFO	0	EFO	Japanese	Japanese
EFO:0003152	EFO:0003164	\N	"Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam." []	EFO:0003164	"Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere." []	206980	\N	\N	EFO	1	EFO	Asian	Japanese
EFO:0001799	EFO:0003152	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003164	"Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere." []	560077	\N	\N	EFO	2	EFO	ethnic group	Japanese
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003164	"Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere." []	1141954	\N	\N	EFO	3	EFO	population	Japanese
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003164	"Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere." []	2024849	\N	\N	EFO	4	EFO	material entity	Japanese
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003164	"Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere." []	3177698	\N	\N	EFO	5	EFO	experimental factor	Japanese
EFO:0003165	\N	\N	"Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere." []	EFO:0003165	"Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere." []	65771	\N	\N	EFO	0	EFO	Korean	Korean
EFO:0003152	EFO:0003165	\N	"Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam." []	EFO:0003165	"Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere." []	206981	\N	\N	EFO	1	EFO	Asian	Korean
EFO:0001799	EFO:0003152	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003165	"Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere." []	560078	\N	\N	EFO	2	EFO	ethnic group	Korean
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003165	"Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere." []	1141955	\N	\N	EFO	3	EFO	population	Korean
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003165	"Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere." []	2024850	\N	\N	EFO	4	EFO	material entity	Korean
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003165	"Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere." []	3177699	\N	\N	EFO	5	EFO	experimental factor	Korean
EFO:0003166	\N	\N	"A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []	EFO:0003166	"A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []	65772	\N	\N	EFO	0	EFO	Latino	Latino
EFO:0001799	EFO:0003166	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003166	"A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []	206982	\N	\N	EFO	1	EFO	ethnic group	Latino
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003166	"A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []	560079	\N	\N	EFO	2	EFO	population	Latino
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003166	"A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []	1141956	\N	\N	EFO	3	EFO	material entity	Latino
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003166	"A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []	2024851	\N	\N	EFO	4	EFO	experimental factor	Latino
EFO:0003167	\N	\N	"" []	EFO:0003167	"" []	65773	\N	\N	EFO	0	EFO	Pima Indian	Pima Indian
EFO:0001799	EFO:0003167	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003167	"" []	206983	\N	\N	EFO	1	EFO	ethnic group	Pima Indian
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003167	"" []	560080	\N	\N	EFO	2	EFO	population	Pima Indian
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003167	"" []	1141957	\N	\N	EFO	3	EFO	material entity	Pima Indian
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003167	"" []	2024852	\N	\N	EFO	4	EFO	experimental factor	Pima Indian
EFO:0003168	\N	\N	"Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere." []	EFO:0003168	"Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere." []	65774	\N	\N	EFO	0	EFO	Hawaiian	Hawaiian
EFO:0001799	EFO:0003168	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003168	"Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere." []	206984	\N	\N	EFO	1	EFO	ethnic group	Hawaiian
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003168	"Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere." []	560081	\N	\N	EFO	2	EFO	population	Hawaiian
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003168	"Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere." []	1141958	\N	\N	EFO	3	EFO	material entity	Hawaiian
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003168	"Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere." []	2024853	\N	\N	EFO	4	EFO	experimental factor	Hawaiian
EFO:0003169	\N	\N	"A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []	EFO:0003169	"A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []	65775	\N	\N	EFO	0	EFO	Hispanic	Hispanic
EFO:0001799	EFO:0003169	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0003169	"A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []	206985	\N	\N	EFO	1	EFO	ethnic group	Hispanic
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0003169	"A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []	560082	\N	\N	EFO	2	EFO	population	Hispanic
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003169	"A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []	1141959	\N	\N	EFO	3	EFO	material entity	Hispanic
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003169	"A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []	2024854	\N	\N	EFO	4	EFO	experimental factor	Hispanic
EFO:0003172	\N	\N	"Pleiotrophin (PTN) also known as heparin-binding brain mitogen (HBBM) or heparin-binding growth factor 8 (HBGF-8) or neurite growth-promoting factor 1 (NEGF1) or heparin affinity regulatory peptide (HARP) or heparin binding growth associated molecule (HB-GAM) is a protein that in humans is encoded by the PTN gene.[1] Pleiotrophin is an 18-kDa growth factor that has a high affinity for heparin. It is structurally related to midkine and retinoic acid induced heparin-binding protein." []	EFO:0003172	"Pleiotrophin (PTN) also known as heparin-binding brain mitogen (HBBM) or heparin-binding growth factor 8 (HBGF-8) or neurite growth-promoting factor 1 (NEGF1) or heparin affinity regulatory peptide (HARP) or heparin binding growth associated molecule (HB-GAM) is a protein that in humans is encoded by the PTN gene.[1] Pleiotrophin is an 18-kDa growth factor that has a high affinity for heparin. It is structurally related to midkine and retinoic acid induced heparin-binding protein." []	65776	\N	\N	EFO	0	EFO	pleiotrophin	pleiotrophin
CHEBI:36080	EFO:0003172	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003172	"Pleiotrophin (PTN) also known as heparin-binding brain mitogen (HBBM) or heparin-binding growth factor 8 (HBGF-8) or neurite growth-promoting factor 1 (NEGF1) or heparin affinity regulatory peptide (HARP) or heparin binding growth associated molecule (HB-GAM) is a protein that in humans is encoded by the PTN gene.[1] Pleiotrophin is an 18-kDa growth factor that has a high affinity for heparin. It is structurally related to midkine and retinoic acid induced heparin-binding protein." []	206986	\N	\N	EFO	1	EFO	protein	pleiotrophin
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003172	"Pleiotrophin (PTN) also known as heparin-binding brain mitogen (HBBM) or heparin-binding growth factor 8 (HBGF-8) or neurite growth-promoting factor 1 (NEGF1) or heparin affinity regulatory peptide (HARP) or heparin binding growth associated molecule (HB-GAM) is a protein that in humans is encoded by the PTN gene.[1] Pleiotrophin is an 18-kDa growth factor that has a high affinity for heparin. It is structurally related to midkine and retinoic acid induced heparin-binding protein." []	560083	\N	\N	EFO	2	EFO	chemical compound	pleiotrophin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003172	"Pleiotrophin (PTN) also known as heparin-binding brain mitogen (HBBM) or heparin-binding growth factor 8 (HBGF-8) or neurite growth-promoting factor 1 (NEGF1) or heparin affinity regulatory peptide (HARP) or heparin binding growth associated molecule (HB-GAM) is a protein that in humans is encoded by the PTN gene.[1] Pleiotrophin is an 18-kDa growth factor that has a high affinity for heparin. It is structurally related to midkine and retinoic acid induced heparin-binding protein." []	1141960	\N	\N	EFO	3	EFO	chemical entity	pleiotrophin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003172	"Pleiotrophin (PTN) also known as heparin-binding brain mitogen (HBBM) or heparin-binding growth factor 8 (HBGF-8) or neurite growth-promoting factor 1 (NEGF1) or heparin affinity regulatory peptide (HARP) or heparin binding growth associated molecule (HB-GAM) is a protein that in humans is encoded by the PTN gene.[1] Pleiotrophin is an 18-kDa growth factor that has a high affinity for heparin. It is structurally related to midkine and retinoic acid induced heparin-binding protein." []	2024855	\N	\N	EFO	4	EFO	material entity	pleiotrophin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003172	"Pleiotrophin (PTN) also known as heparin-binding brain mitogen (HBBM) or heparin-binding growth factor 8 (HBGF-8) or neurite growth-promoting factor 1 (NEGF1) or heparin affinity regulatory peptide (HARP) or heparin binding growth associated molecule (HB-GAM) is a protein that in humans is encoded by the PTN gene.[1] Pleiotrophin is an 18-kDa growth factor that has a high affinity for heparin. It is structurally related to midkine and retinoic acid induced heparin-binding protein." []	3177700	\N	\N	EFO	5	EFO	experimental factor	pleiotrophin
EFO:0003183	\N	\N	"Thrombin is a \\"trypsin-like\\" serine protease protein that in humans is encoded by the F2 gene.[2][3] Prothrombin (coagulation factor II) is proteolytically cleaved to form thrombin in the coagulation cascade, which ultimately results in the stemming of blood loss. Thrombin in turn acts as a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions." []	EFO:0003183	"Thrombin is a \\"trypsin-like\\" serine protease protein that in humans is encoded by the F2 gene.[2][3] Prothrombin (coagulation factor II) is proteolytically cleaved to form thrombin in the coagulation cascade, which ultimately results in the stemming of blood loss. Thrombin in turn acts as a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions." []	65777	\N	\N	EFO	0	EFO	thrombin	thrombin
CHEBI:36080	EFO:0003183	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003183	"Thrombin is a \\"trypsin-like\\" serine protease protein that in humans is encoded by the F2 gene.[2][3] Prothrombin (coagulation factor II) is proteolytically cleaved to form thrombin in the coagulation cascade, which ultimately results in the stemming of blood loss. Thrombin in turn acts as a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions." []	206987	\N	\N	EFO	1	EFO	protein	thrombin
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003183	"Thrombin is a \\"trypsin-like\\" serine protease protein that in humans is encoded by the F2 gene.[2][3] Prothrombin (coagulation factor II) is proteolytically cleaved to form thrombin in the coagulation cascade, which ultimately results in the stemming of blood loss. Thrombin in turn acts as a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions." []	560084	\N	\N	EFO	2	EFO	chemical compound	thrombin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003183	"Thrombin is a \\"trypsin-like\\" serine protease protein that in humans is encoded by the F2 gene.[2][3] Prothrombin (coagulation factor II) is proteolytically cleaved to form thrombin in the coagulation cascade, which ultimately results in the stemming of blood loss. Thrombin in turn acts as a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions." []	1141961	\N	\N	EFO	3	EFO	chemical entity	thrombin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003183	"Thrombin is a \\"trypsin-like\\" serine protease protein that in humans is encoded by the F2 gene.[2][3] Prothrombin (coagulation factor II) is proteolytically cleaved to form thrombin in the coagulation cascade, which ultimately results in the stemming of blood loss. Thrombin in turn acts as a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions." []	2024856	\N	\N	EFO	4	EFO	material entity	thrombin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003183	"Thrombin is a \\"trypsin-like\\" serine protease protein that in humans is encoded by the F2 gene.[2][3] Prothrombin (coagulation factor II) is proteolytically cleaved to form thrombin in the coagulation cascade, which ultimately results in the stemming of blood loss. Thrombin in turn acts as a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions." []	3177701	\N	\N	EFO	5	EFO	experimental factor	thrombin
EFO:0003191	\N	\N	"" []	EFO:0003191	"" []	65778	\N	\N	EFO	0	EFO	ocimene	ocimene
CHEBI:36080	EFO:0003191	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003191	"" []	206988	\N	\N	EFO	1	EFO	protein	ocimene
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003191	"" []	560085	\N	\N	EFO	2	EFO	chemical compound	ocimene
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003191	"" []	1141962	\N	\N	EFO	3	EFO	chemical entity	ocimene
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003191	"" []	2024857	\N	\N	EFO	4	EFO	material entity	ocimene
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003191	"" []	3177702	\N	\N	EFO	5	EFO	experimental factor	ocimene
EFO:0003199	\N	\N	"" []	EFO:0003199	"" []	65779	\N	\N	EFO	0	EFO	leptin	leptin
CHEBI:24621	EFO:0003199	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	EFO:0003199	"" []	206989	\N	\N	EFO	1	EFO	hormone	leptin
CHEBI:36080	EFO:0003199	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003199	"" []	206990	\N	\N	EFO	1	EFO	protein	leptin
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003199	"" []	560086	\N	\N	EFO	2	EFO	chemical compound	leptin
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003199	"" []	560087	\N	\N	EFO	2	EFO	chemical compound	leptin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003199	"" []	1141963	\N	\N	EFO	3	EFO	chemical entity	leptin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003199	"" []	2024858	\N	\N	EFO	4	EFO	material entity	leptin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003199	"" []	3177703	\N	\N	EFO	5	EFO	experimental factor	leptin
EFO:0003200	\N	\N	"" []	EFO:0003200	"" []	65780	\N	\N	EFO	0	EFO	oncostatin M	oncostatin M
EFO:0004100	EFO:0003200	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003200	"" []	206991	\N	\N	EFO	1	EFO	interleukin	oncostatin M
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003200	"" []	560088	\N	\N	EFO	2	EFO	cytokine	oncostatin M
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003200	"" []	1141964	\N	\N	EFO	3	EFO	protein	oncostatin M
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003200	"" []	2024859	\N	\N	EFO	4	EFO	chemical compound	oncostatin M
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003200	"" []	3177704	\N	\N	EFO	5	EFO	chemical entity	oncostatin M
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003200	"" []	4387871	\N	\N	EFO	6	EFO	material entity	oncostatin M
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003200	"" []	5408657	\N	\N	EFO	7	EFO	experimental factor	oncostatin M
EFO:0003233	\N	\N	"Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/??r??r??p??.?t?n/, /??r??r??p??t?n/, or /??ri??r?-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow." []	EFO:0003233	"Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/??r??r??p??.?t?n/, /??r??r??p??t?n/, or /??ri??r?-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow." []	65781	\N	\N	EFO	0	EFO	erythropoietin	erythropoietin
CHEBI:17089	EFO:0003233	\N	"" []	EFO:0003233	"Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/??r??r??p??.?t?n/, /??r??r??p??t?n/, or /??ri??r?-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow." []	206992	\N	\N	EFO	1	EFO	glycoprotein	erythropoietin
CHEBI:24621	EFO:0003233	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	EFO:0003233	"Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/??r??r??p??.?t?n/, /??r??r??p??t?n/, or /??ri??r?-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow." []	206993	\N	\N	EFO	1	EFO	hormone	erythropoietin
CHEBI:36080	CHEBI:17089	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003233	"Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/??r??r??p??.?t?n/, /??r??r??p??t?n/, or /??ri??r?-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow." []	560089	\N	\N	EFO	2	EFO	protein	erythropoietin
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003233	"Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/??r??r??p??.?t?n/, /??r??r??p??t?n/, or /??ri??r?-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow." []	560090	\N	\N	EFO	2	EFO	chemical compound	erythropoietin
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003233	"Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/??r??r??p??.?t?n/, /??r??r??p??t?n/, or /??ri??r?-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow." []	1141965	\N	\N	EFO	3	EFO	chemical compound	erythropoietin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003233	"Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/??r??r??p??.?t?n/, /??r??r??p??t?n/, or /??ri??r?-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow." []	2024860	\N	\N	EFO	4	EFO	chemical entity	erythropoietin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003233	"Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/??r??r??p??.?t?n/, /??r??r??p??t?n/, or /??ri??r?-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow." []	2999543	\N	\N	EFO	5	EFO	material entity	erythropoietin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003233	"Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/??r??r??p??.?t?n/, /??r??r??p??t?n/, or /??ri??r?-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow." []	4132620	\N	\N	EFO	6	EFO	experimental factor	erythropoietin
EFO:0003234	\N	\N	"" []	EFO:0003234	"" []	65782	\N	\N	EFO	0	EFO	follicle stimulating hormone	follicle stimulating hormone
CHEBI:24621	EFO:0003234	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	EFO:0003234	"" []	206994	\N	\N	EFO	1	EFO	hormone	follicle stimulating hormone
CHEBI:36080	EFO:0003234	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003234	"" []	206995	\N	\N	EFO	1	EFO	protein	follicle stimulating hormone
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003234	"" []	560091	\N	\N	EFO	2	EFO	chemical compound	follicle stimulating hormone
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003234	"" []	560092	\N	\N	EFO	2	EFO	chemical compound	follicle stimulating hormone
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003234	"" []	1141967	\N	\N	EFO	3	EFO	chemical entity	follicle stimulating hormone
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003234	"" []	2024862	\N	\N	EFO	4	EFO	material entity	follicle stimulating hormone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003234	"" []	3177706	\N	\N	EFO	5	EFO	experimental factor	follicle stimulating hormone
EFO:0003236	\N	\N	"Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]" []	EFO:0003236	"Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]" []	65783	\N	\N	EFO	0	EFO	thrombopoietin	thrombopoietin
CHEBI:17089	EFO:0003236	\N	"" []	EFO:0003236	"Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]" []	206996	\N	\N	EFO	1	EFO	glycoprotein	thrombopoietin
CHEBI:24621	EFO:0003236	\N	"An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function." []	EFO:0003236	"Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]" []	206997	\N	\N	EFO	1	EFO	hormone	thrombopoietin
CHEBI:36080	CHEBI:17089	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003236	"Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]" []	560093	\N	\N	EFO	2	EFO	protein	thrombopoietin
CHEBI:37577	CHEBI:24621	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003236	"Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]" []	560094	\N	\N	EFO	2	EFO	chemical compound	thrombopoietin
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003236	"Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]" []	1141968	\N	\N	EFO	3	EFO	chemical compound	thrombopoietin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003236	"Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]" []	2024863	\N	\N	EFO	4	EFO	chemical entity	thrombopoietin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003236	"Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]" []	2999544	\N	\N	EFO	5	EFO	material entity	thrombopoietin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003236	"Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]" []	4132621	\N	\N	EFO	6	EFO	experimental factor	thrombopoietin
EFO:0003237	\N	\N	"" []	EFO:0003237	"" []	65784	\N	\N	EFO	0	EFO	chitin octamer	chitin octamer
CHEBI:37577	EFO:0003237	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003237	"" []	206998	\N	\N	EFO	1	EFO	chemical compound	chitin octamer
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003237	"" []	560095	\N	\N	EFO	2	EFO	chemical entity	chitin octamer
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003237	"" []	1141970	\N	\N	EFO	3	EFO	material entity	chitin octamer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003237	"" []	2024865	\N	\N	EFO	4	EFO	experimental factor	chitin octamer
EFO:0003241	\N	\N	"" []	EFO:0003241	"" []	65785	\N	\N	EFO	0	EFO	flagellin	flagellin
CHEBI:36080	EFO:0003241	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003241	"" []	206999	\N	\N	EFO	1	EFO	protein	flagellin
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003241	"" []	560096	\N	\N	EFO	2	EFO	chemical compound	flagellin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003241	"" []	1141971	\N	\N	EFO	3	EFO	chemical entity	flagellin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003241	"" []	2024866	\N	\N	EFO	4	EFO	material entity	flagellin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003241	"" []	3177708	\N	\N	EFO	5	EFO	experimental factor	flagellin
EFO:0003266	\N	\N	"Neuromedin U (or NmU) is a neuropeptide found in the brain of humans and other mammals, which has a number of diverse functions including contraction of smooth muscle, regulation of blood pressure, pain perception, appetite, bone growth, and hormone release. It was first isolated from the spinal cord in 1985, and named after its ability to cause smooth muscle contraction in the uterus." []	EFO:0003266	"Neuromedin U (or NmU) is a neuropeptide found in the brain of humans and other mammals, which has a number of diverse functions including contraction of smooth muscle, regulation of blood pressure, pain perception, appetite, bone growth, and hormone release. It was first isolated from the spinal cord in 1985, and named after its ability to cause smooth muscle contraction in the uterus." []	65786	\N	\N	EFO	0	EFO	neuromedin U	neuromedin U
CHEBI:36080	EFO:0003266	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003266	"Neuromedin U (or NmU) is a neuropeptide found in the brain of humans and other mammals, which has a number of diverse functions including contraction of smooth muscle, regulation of blood pressure, pain perception, appetite, bone growth, and hormone release. It was first isolated from the spinal cord in 1985, and named after its ability to cause smooth muscle contraction in the uterus." []	207000	\N	\N	EFO	1	EFO	protein	neuromedin U
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003266	"Neuromedin U (or NmU) is a neuropeptide found in the brain of humans and other mammals, which has a number of diverse functions including contraction of smooth muscle, regulation of blood pressure, pain perception, appetite, bone growth, and hormone release. It was first isolated from the spinal cord in 1985, and named after its ability to cause smooth muscle contraction in the uterus." []	560097	\N	\N	EFO	2	EFO	chemical compound	neuromedin U
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003266	"Neuromedin U (or NmU) is a neuropeptide found in the brain of humans and other mammals, which has a number of diverse functions including contraction of smooth muscle, regulation of blood pressure, pain perception, appetite, bone growth, and hormone release. It was first isolated from the spinal cord in 1985, and named after its ability to cause smooth muscle contraction in the uterus." []	1141972	\N	\N	EFO	3	EFO	chemical entity	neuromedin U
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003266	"Neuromedin U (or NmU) is a neuropeptide found in the brain of humans and other mammals, which has a number of diverse functions including contraction of smooth muscle, regulation of blood pressure, pain perception, appetite, bone growth, and hormone release. It was first isolated from the spinal cord in 1985, and named after its ability to cause smooth muscle contraction in the uterus." []	2024867	\N	\N	EFO	4	EFO	material entity	neuromedin U
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003266	"Neuromedin U (or NmU) is a neuropeptide found in the brain of humans and other mammals, which has a number of diverse functions including contraction of smooth muscle, regulation of blood pressure, pain perception, appetite, bone growth, and hormone release. It was first isolated from the spinal cord in 1985, and named after its ability to cause smooth muscle contraction in the uterus." []	3177709	\N	\N	EFO	5	EFO	experimental factor	neuromedin U
EFO:0003271	\N	\N	"Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-?) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well." []	EFO:0003271	"Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-?) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well." []	65787	\N	\N	EFO	0	EFO	tumor necrosis factor-alpha	tumor necrosis factor-alpha
EFO:0003786	EFO:0003271	\N	"" []	EFO:0003271	"Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-?) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well." []	207001	\N	\N	EFO	1	EFO	cytokine	tumor necrosis factor-alpha
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003271	"Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-?) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well." []	560098	\N	\N	EFO	2	EFO	protein	tumor necrosis factor-alpha
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003271	"Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-?) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well." []	1141973	\N	\N	EFO	3	EFO	chemical compound	tumor necrosis factor-alpha
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003271	"Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-?) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well." []	2024868	\N	\N	EFO	4	EFO	chemical entity	tumor necrosis factor-alpha
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003271	"Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-?) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well." []	3177710	\N	\N	EFO	5	EFO	material entity	tumor necrosis factor-alpha
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003271	"Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-?) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well." []	4387872	\N	\N	EFO	6	EFO	experimental factor	tumor necrosis factor-alpha
EFO:0003276	\N	\N	"Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and low in diabetes mellitus. VEGF's normal function is to create new blood vessels during embryonic development, new blood vessels after injury, muscle following exercise, and new vessels (collateral circulation) to bypass blocked vessels.\\nWhen VEGF is overexpressed, it can contribute to disease. Solid cancers cannot grow beyond a limited size without an adequate blood supply; cancers that can express VEGF are able to grow and metastasize. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body. Drugs such as bevacizumab can inhibit VEGF and control or slow those diseases.\\nVEGF is a sub-family of growth factors, to be specific, the platelet-derived growth factor family of cystine-knot growth factors. They are important signaling proteins involved in both vasculogenesis (the de novo formation of the embryonic circulatory system) and angiogenesis (the growth of blood vessels from pre-existing vasculature)." []	EFO:0003276	"Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and low in diabetes mellitus. VEGF's normal function is to create new blood vessels during embryonic development, new blood vessels after injury, muscle following exercise, and new vessels (collateral circulation) to bypass blocked vessels.\\nWhen VEGF is overexpressed, it can contribute to disease. Solid cancers cannot grow beyond a limited size without an adequate blood supply; cancers that can express VEGF are able to grow and metastasize. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body. Drugs such as bevacizumab can inhibit VEGF and control or slow those diseases.\\nVEGF is a sub-family of growth factors, to be specific, the platelet-derived growth factor family of cystine-knot growth factors. They are important signaling proteins involved in both vasculogenesis (the de novo formation of the embryonic circulatory system) and angiogenesis (the growth of blood vessels from pre-existing vasculature)." []	65788	\N	\N	EFO	0	EFO	vascular endothelial growth factor	vascular endothelial growth factor
CHEBI:36080	EFO:0003276	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003276	"Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and low in diabetes mellitus. VEGF's normal function is to create new blood vessels during embryonic development, new blood vessels after injury, muscle following exercise, and new vessels (collateral circulation) to bypass blocked vessels.\\nWhen VEGF is overexpressed, it can contribute to disease. Solid cancers cannot grow beyond a limited size without an adequate blood supply; cancers that can express VEGF are able to grow and metastasize. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body. Drugs such as bevacizumab can inhibit VEGF and control or slow those diseases.\\nVEGF is a sub-family of growth factors, to be specific, the platelet-derived growth factor family of cystine-knot growth factors. They are important signaling proteins involved in both vasculogenesis (the de novo formation of the embryonic circulatory system) and angiogenesis (the growth of blood vessels from pre-existing vasculature)." []	207002	\N	\N	EFO	1	EFO	protein	vascular endothelial growth factor
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003276	"Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and low in diabetes mellitus. VEGF's normal function is to create new blood vessels during embryonic development, new blood vessels after injury, muscle following exercise, and new vessels (collateral circulation) to bypass blocked vessels.\\nWhen VEGF is overexpressed, it can contribute to disease. Solid cancers cannot grow beyond a limited size without an adequate blood supply; cancers that can express VEGF are able to grow and metastasize. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body. Drugs such as bevacizumab can inhibit VEGF and control or slow those diseases.\\nVEGF is a sub-family of growth factors, to be specific, the platelet-derived growth factor family of cystine-knot growth factors. They are important signaling proteins involved in both vasculogenesis (the de novo formation of the embryonic circulatory system) and angiogenesis (the growth of blood vessels from pre-existing vasculature)." []	560099	\N	\N	EFO	2	EFO	chemical compound	vascular endothelial growth factor
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003276	"Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and low in diabetes mellitus. VEGF's normal function is to create new blood vessels during embryonic development, new blood vessels after injury, muscle following exercise, and new vessels (collateral circulation) to bypass blocked vessels.\\nWhen VEGF is overexpressed, it can contribute to disease. Solid cancers cannot grow beyond a limited size without an adequate blood supply; cancers that can express VEGF are able to grow and metastasize. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body. Drugs such as bevacizumab can inhibit VEGF and control or slow those diseases.\\nVEGF is a sub-family of growth factors, to be specific, the platelet-derived growth factor family of cystine-knot growth factors. They are important signaling proteins involved in both vasculogenesis (the de novo formation of the embryonic circulatory system) and angiogenesis (the growth of blood vessels from pre-existing vasculature)." []	1141974	\N	\N	EFO	3	EFO	chemical entity	vascular endothelial growth factor
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003276	"Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and low in diabetes mellitus. VEGF's normal function is to create new blood vessels during embryonic development, new blood vessels after injury, muscle following exercise, and new vessels (collateral circulation) to bypass blocked vessels.\\nWhen VEGF is overexpressed, it can contribute to disease. Solid cancers cannot grow beyond a limited size without an adequate blood supply; cancers that can express VEGF are able to grow and metastasize. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body. Drugs such as bevacizumab can inhibit VEGF and control or slow those diseases.\\nVEGF is a sub-family of growth factors, to be specific, the platelet-derived growth factor family of cystine-knot growth factors. They are important signaling proteins involved in both vasculogenesis (the de novo formation of the embryonic circulatory system) and angiogenesis (the growth of blood vessels from pre-existing vasculature)." []	2024869	\N	\N	EFO	4	EFO	material entity	vascular endothelial growth factor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003276	"Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and low in diabetes mellitus. VEGF's normal function is to create new blood vessels during embryonic development, new blood vessels after injury, muscle following exercise, and new vessels (collateral circulation) to bypass blocked vessels.\\nWhen VEGF is overexpressed, it can contribute to disease. Solid cancers cannot grow beyond a limited size without an adequate blood supply; cancers that can express VEGF are able to grow and metastasize. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body. Drugs such as bevacizumab can inhibit VEGF and control or slow those diseases.\\nVEGF is a sub-family of growth factors, to be specific, the platelet-derived growth factor family of cystine-knot growth factors. They are important signaling proteins involved in both vasculogenesis (the de novo formation of the embryonic circulatory system) and angiogenesis (the growth of blood vessels from pre-existing vasculature)." []	3177711	\N	\N	EFO	5	EFO	experimental factor	vascular endothelial growth factor
EFO:0003292	\N	\N	"" []	EFO:0003292	"" []	65789	\N	\N	EFO	0	EFO	interleukin-2 (Mus musculus)	interleukin-2 (Mus musculus)
EFO:0003792	EFO:0003292	\N	"" []	EFO:0003292	"" []	207003	\N	\N	EFO	1	EFO	interleukin (Mus musculus)	interleukin-2 (Mus musculus)
EFO:0004100	EFO:0003792	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003292	"" []	560100	\N	\N	EFO	2	EFO	interleukin	interleukin-2 (Mus musculus)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003292	"" []	1141975	\N	\N	EFO	3	EFO	cytokine	interleukin-2 (Mus musculus)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003292	"" []	2024870	\N	\N	EFO	4	EFO	protein	interleukin-2 (Mus musculus)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003292	"" []	3177712	\N	\N	EFO	5	EFO	chemical compound	interleukin-2 (Mus musculus)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003292	"" []	4387873	\N	\N	EFO	6	EFO	chemical entity	interleukin-2 (Mus musculus)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003292	"" []	5408658	\N	\N	EFO	7	EFO	material entity	interleukin-2 (Mus musculus)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003292	"" []	6147454	\N	\N	EFO	8	EFO	experimental factor	interleukin-2 (Mus musculus)
EFO:0003294	\N	\N	"" []	EFO:0003294	"" []	65790	\N	\N	EFO	0	EFO	listeriolysin	listeriolysin
CHEBI:36080	EFO:0003294	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003294	"" []	207004	\N	\N	EFO	1	EFO	protein	listeriolysin
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003294	"" []	560101	\N	\N	EFO	2	EFO	chemical compound	listeriolysin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003294	"" []	1141976	\N	\N	EFO	3	EFO	chemical entity	listeriolysin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003294	"" []	2024871	\N	\N	EFO	4	EFO	material entity	listeriolysin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003294	"" []	3177713	\N	\N	EFO	5	EFO	experimental factor	listeriolysin
EFO:0003296	\N	\N	"" []	EFO:0003296	"" []	65791	\N	\N	EFO	0	EFO	interleukin-4 (Homo sapiens)	interleukin-4 (Homo sapiens)
EFO:0003791	EFO:0003296	\N	"" []	EFO:0003296	"" []	207005	\N	\N	EFO	1	EFO	interleukin (Homo sapiens)	interleukin-4 (Homo sapiens)
EFO:0004100	EFO:0003791	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003296	"" []	560102	\N	\N	EFO	2	EFO	interleukin	interleukin-4 (Homo sapiens)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003296	"" []	1141977	\N	\N	EFO	3	EFO	cytokine	interleukin-4 (Homo sapiens)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003296	"" []	2024872	\N	\N	EFO	4	EFO	protein	interleukin-4 (Homo sapiens)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003296	"" []	3177714	\N	\N	EFO	5	EFO	chemical compound	interleukin-4 (Homo sapiens)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003296	"" []	4387874	\N	\N	EFO	6	EFO	chemical entity	interleukin-4 (Homo sapiens)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003296	"" []	5408659	\N	\N	EFO	7	EFO	material entity	interleukin-4 (Homo sapiens)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003296	"" []	6147455	\N	\N	EFO	8	EFO	experimental factor	interleukin-4 (Homo sapiens)
EFO:0003298	\N	\N	"" []	EFO:0003298	"" []	65792	\N	\N	EFO	0	EFO	epidermal growth factor	epidermal growth factor
CHEBI:36080	EFO:0003298	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003298	"" []	207006	\N	\N	EFO	1	EFO	protein	epidermal growth factor
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003298	"" []	560103	\N	\N	EFO	2	EFO	chemical compound	epidermal growth factor
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003298	"" []	1141978	\N	\N	EFO	3	EFO	chemical entity	epidermal growth factor
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003298	"" []	2024873	\N	\N	EFO	4	EFO	material entity	epidermal growth factor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003298	"" []	3177715	\N	\N	EFO	5	EFO	experimental factor	epidermal growth factor
EFO:0003303	\N	\N	"" []	EFO:0003303	"" []	65793	\N	\N	EFO	0	EFO	hepatocyte growth factor	hepatocyte growth factor
CHEBI:36080	EFO:0003303	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003303	"" []	207007	\N	\N	EFO	1	EFO	protein	hepatocyte growth factor
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003303	"" []	560104	\N	\N	EFO	2	EFO	chemical compound	hepatocyte growth factor
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003303	"" []	1141979	\N	\N	EFO	3	EFO	chemical entity	hepatocyte growth factor
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003303	"" []	2024874	\N	\N	EFO	4	EFO	material entity	hepatocyte growth factor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003303	"" []	3177716	\N	\N	EFO	5	EFO	experimental factor	hepatocyte growth factor
EFO:0003304	\N	\N	"" []	EFO:0003304	"" []	65794	\N	\N	EFO	0	EFO	anti-CD28	anti-CD28
CHEBI:36080	EFO:0003304	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003304	"" []	207008	\N	\N	EFO	1	EFO	protein	anti-CD28
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003304	"" []	560105	\N	\N	EFO	2	EFO	chemical compound	anti-CD28
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003304	"" []	1141980	\N	\N	EFO	3	EFO	chemical entity	anti-CD28
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003304	"" []	2024875	\N	\N	EFO	4	EFO	material entity	anti-CD28
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003304	"" []	3177717	\N	\N	EFO	5	EFO	experimental factor	anti-CD28
EFO:0003308	\N	\N	"Hereregulin b1 is a  signaling protein for ErbB2/ErbB4 receptor heterodimers on the cardiac muscle cells." []	EFO:0003308	"Hereregulin b1 is a  signaling protein for ErbB2/ErbB4 receptor heterodimers on the cardiac muscle cells." []	65795	\N	\N	EFO	0	EFO	heregulin B1	heregulin B1
CHEBI:36080	EFO:0003308	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003308	"Hereregulin b1 is a  signaling protein for ErbB2/ErbB4 receptor heterodimers on the cardiac muscle cells." []	207009	\N	\N	EFO	1	EFO	protein	heregulin B1
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003308	"Hereregulin b1 is a  signaling protein for ErbB2/ErbB4 receptor heterodimers on the cardiac muscle cells." []	560106	\N	\N	EFO	2	EFO	chemical compound	heregulin B1
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003308	"Hereregulin b1 is a  signaling protein for ErbB2/ErbB4 receptor heterodimers on the cardiac muscle cells." []	1141981	\N	\N	EFO	3	EFO	chemical entity	heregulin B1
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003308	"Hereregulin b1 is a  signaling protein for ErbB2/ErbB4 receptor heterodimers on the cardiac muscle cells." []	2024876	\N	\N	EFO	4	EFO	material entity	heregulin B1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003308	"Hereregulin b1 is a  signaling protein for ErbB2/ErbB4 receptor heterodimers on the cardiac muscle cells." []	3177718	\N	\N	EFO	5	EFO	experimental factor	heregulin B1
EFO:0003316	\N	\N	"" []	EFO:0003316	"" []	65796	\N	\N	EFO	0	EFO	basic fibroblast growth factor	basic fibroblast growth factor
CHEBI:36080	EFO:0003316	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003316	"" []	207010	\N	\N	EFO	1	EFO	protein	basic fibroblast growth factor
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003316	"" []	560107	\N	\N	EFO	2	EFO	chemical compound	basic fibroblast growth factor
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003316	"" []	1141982	\N	\N	EFO	3	EFO	chemical entity	basic fibroblast growth factor
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003316	"" []	2024877	\N	\N	EFO	4	EFO	material entity	basic fibroblast growth factor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003316	"" []	3177719	\N	\N	EFO	5	EFO	experimental factor	basic fibroblast growth factor
EFO:0003317	\N	\N	"" []	EFO:0003317	"" []	65797	\N	\N	EFO	0	EFO	anti-CD3	anti-CD3
CHEBI:36080	EFO:0003317	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003317	"" []	207011	\N	\N	EFO	1	EFO	protein	anti-CD3
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003317	"" []	560108	\N	\N	EFO	2	EFO	chemical compound	anti-CD3
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003317	"" []	1141983	\N	\N	EFO	3	EFO	chemical entity	anti-CD3
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003317	"" []	2024878	\N	\N	EFO	4	EFO	material entity	anti-CD3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003317	"" []	3177720	\N	\N	EFO	5	EFO	experimental factor	anti-CD3
EFO:0003331	\N	\N	"" []	EFO:0003331	"" []	65798	\N	\N	EFO	0	EFO	zebrafish component	zebrafish component
EFO:0000787	EFO:0003331	\N	"" []	EFO:0003331	"" []	207012	\N	\N	EFO	1	EFO	animal component	zebrafish component
EFO:0000786	EFO:0000787	\N	"" []	EFO:0003331	"" []	560109	\N	\N	EFO	2	EFO	anatomy basic component	zebrafish component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0003331	"" []	1141984	\N	\N	EFO	3	EFO	organism part	zebrafish component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003331	"" []	2024879	\N	\N	EFO	4	EFO	material entity	zebrafish component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003331	"" []	3177721	\N	\N	EFO	5	EFO	experimental factor	zebrafish component
EFO:0003332	\N	\N	"" []	EFO:0003332	"" []	65799	\N	\N	EFO	0	EFO	zebrafish embryonic structure	zebrafish embryonic structure
EFO:0003331	EFO:0003332	\N	"" []	EFO:0003332	"" []	207013	\N	\N	EFO	1	EFO	zebrafish component	zebrafish embryonic structure
EFO:0000787	EFO:0003331	\N	"" []	EFO:0003332	"" []	560110	\N	\N	EFO	2	EFO	animal component	zebrafish embryonic structure
EFO:0000786	EFO:0000787	\N	"" []	EFO:0003332	"" []	1141985	\N	\N	EFO	3	EFO	anatomy basic component	zebrafish embryonic structure
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0003332	"" []	2024880	\N	\N	EFO	4	EFO	organism part	zebrafish embryonic structure
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003332	"" []	3177722	\N	\N	EFO	5	EFO	material entity	zebrafish embryonic structure
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003332	"" []	4387875	\N	\N	EFO	6	EFO	experimental factor	zebrafish embryonic structure
EFO:0003333	\N	\N	"" []	EFO:0003333	"" []	65800	\N	\N	EFO	0	EFO	Drosophila developmental tissue	Drosophila developmental tissue
EFO:0003334	EFO:0003333	\N	"" []	EFO:0003333	"" []	207014	\N	\N	EFO	1	EFO	Drosophila component	Drosophila developmental tissue
EFO:0000787	EFO:0003334	\N	"" []	EFO:0003333	"" []	560111	\N	\N	EFO	2	EFO	animal component	Drosophila developmental tissue
EFO:0000786	EFO:0000787	\N	"" []	EFO:0003333	"" []	1141986	\N	\N	EFO	3	EFO	anatomy basic component	Drosophila developmental tissue
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0003333	"" []	2024881	\N	\N	EFO	4	EFO	organism part	Drosophila developmental tissue
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003333	"" []	3177723	\N	\N	EFO	5	EFO	material entity	Drosophila developmental tissue
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003333	"" []	4387876	\N	\N	EFO	6	EFO	experimental factor	Drosophila developmental tissue
EFO:0003334	\N	\N	"" []	EFO:0003334	"" []	65801	\N	\N	EFO	0	EFO	Drosophila component	Drosophila component
EFO:0000787	EFO:0003334	\N	"" []	EFO:0003334	"" []	207015	\N	\N	EFO	1	EFO	animal component	Drosophila component
EFO:0000786	EFO:0000787	\N	"" []	EFO:0003334	"" []	560112	\N	\N	EFO	2	EFO	anatomy basic component	Drosophila component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0003334	"" []	1141987	\N	\N	EFO	3	EFO	organism part	Drosophila component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003334	"" []	2024882	\N	\N	EFO	4	EFO	material entity	Drosophila component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003334	"" []	3177724	\N	\N	EFO	5	EFO	experimental factor	Drosophila component
EFO:0003335	\N	\N	"" []	EFO:0003335	"" []	65802	\N	\N	EFO	0	EFO	Drosophila embryonic structure	Drosophila embryonic structure
EFO:0003334	EFO:0003335	\N	"" []	EFO:0003335	"" []	207016	\N	\N	EFO	1	EFO	Drosophila component	Drosophila embryonic structure
EFO:0000787	EFO:0003334	\N	"" []	EFO:0003335	"" []	560113	\N	\N	EFO	2	EFO	animal component	Drosophila embryonic structure
EFO:0000786	EFO:0000787	\N	"" []	EFO:0003335	"" []	1141988	\N	\N	EFO	3	EFO	anatomy basic component	Drosophila embryonic structure
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0003335	"" []	2024883	\N	\N	EFO	4	EFO	organism part	Drosophila embryonic structure
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003335	"" []	3177725	\N	\N	EFO	5	EFO	material entity	Drosophila embryonic structure
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003335	"" []	4387877	\N	\N	EFO	6	EFO	experimental factor	Drosophila embryonic structure
EFO:0003370	\N	\N	"" []	EFO:0003370	"" []	65803	\N	\N	EFO	0	EFO	posterior midgut proper primordium	posterior midgut proper primordium
EFO:0003335	EFO:0003370	\N	"" []	EFO:0003370	"" []	207017	\N	\N	EFO	1	EFO	Drosophila embryonic structure	posterior midgut proper primordium
EFO:0003334	EFO:0003335	\N	"" []	EFO:0003370	"" []	560114	\N	\N	EFO	2	EFO	Drosophila component	posterior midgut proper primordium
EFO:0000787	EFO:0003334	\N	"" []	EFO:0003370	"" []	1141989	\N	\N	EFO	3	EFO	animal component	posterior midgut proper primordium
EFO:0000786	EFO:0000787	\N	"" []	EFO:0003370	"" []	2024884	\N	\N	EFO	4	EFO	anatomy basic component	posterior midgut proper primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0003370	"" []	3177726	\N	\N	EFO	5	EFO	organism part	posterior midgut proper primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003370	"" []	4387878	\N	\N	EFO	6	EFO	material entity	posterior midgut proper primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003370	"" []	5408660	\N	\N	EFO	7	EFO	experimental factor	posterior midgut proper primordium
EFO:0003397	\N	\N	"Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve." []	EFO:0003397	"Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve." []	65804	\N	\N	EFO	0	EFO	hypopharyngeal sense organ	hypopharyngeal sense organ
EFO:0003334	EFO:0003397	\N	"" []	EFO:0003397	"Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve." []	207018	\N	\N	EFO	1	EFO	Drosophila component	hypopharyngeal sense organ
EFO:0000787	EFO:0003334	\N	"" []	EFO:0003397	"Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve." []	560115	\N	\N	EFO	2	EFO	animal component	hypopharyngeal sense organ
EFO:0000786	EFO:0000787	\N	"" []	EFO:0003397	"Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve." []	1141990	\N	\N	EFO	3	EFO	anatomy basic component	hypopharyngeal sense organ
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0003397	"Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve." []	2024885	\N	\N	EFO	4	EFO	organism part	hypopharyngeal sense organ
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003397	"Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve." []	3177727	\N	\N	EFO	5	EFO	material entity	hypopharyngeal sense organ
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003397	"Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve." []	4387879	\N	\N	EFO	6	EFO	experimental factor	hypopharyngeal sense organ
EFO:0003410	\N	\N	"" []	EFO:0003410	"" []	65805	\N	\N	EFO	0	EFO	embryonic midgut interstitial cell	embryonic midgut interstitial cell
EFO:0003334	EFO:0003410	\N	"" []	EFO:0003410	"" []	207019	\N	\N	EFO	1	EFO	Drosophila component	embryonic midgut interstitial cell
EFO:0000787	EFO:0003334	\N	"" []	EFO:0003410	"" []	560116	\N	\N	EFO	2	EFO	animal component	embryonic midgut interstitial cell
EFO:0000786	EFO:0000787	\N	"" []	EFO:0003410	"" []	1141991	\N	\N	EFO	3	EFO	anatomy basic component	embryonic midgut interstitial cell
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0003410	"" []	2024886	\N	\N	EFO	4	EFO	organism part	embryonic midgut interstitial cell
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003410	"" []	3177728	\N	\N	EFO	5	EFO	material entity	embryonic midgut interstitial cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003410	"" []	4387880	\N	\N	EFO	6	EFO	experimental factor	embryonic midgut interstitial cell
EFO:0003737	\N	\N	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	65806	\N	\N	EFO	0	EFO	RNA-seq of non coding RNA	RNA-seq of non coding RNA
EFO:0002770	EFO:0003737	\N	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	207020	\N	\N	EFO	1	EFO	transcription profiling by high throughput sequencing	RNA-seq of non coding RNA
EFO:0001032	EFO:0002770	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	560117	\N	\N	EFO	2	EFO	transcription profiling	RNA-seq of non coding RNA
EFO:0001457	EFO:0002770	\N	"An assay with input RNA" []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	560118	\N	\N	EFO	2	EFO	RNA assay	RNA-seq of non coding RNA
EFO:0002697	EFO:0002770	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	560119	\N	\N	EFO	2	EFO	assay by high throughput sequencer	RNA-seq of non coding RNA
EFO:0004120	EFO:0002770	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	560120	\N	\N	EFO	2	EFO	ArrayExpress experiment type	RNA-seq of non coding RNA
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	1141992	\N	\N	EFO	3	EFO	experimental process	RNA-seq of non coding RNA
EFO:0002772	EFO:0001457	\N	"" []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	1141993	\N	\N	EFO	3	EFO	assay by molecule	RNA-seq of non coding RNA
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	1141994	\N	\N	EFO	3	EFO	assay by sequencer	RNA-seq of non coding RNA
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	1141995	\N	\N	EFO	3	EFO	experimental process	RNA-seq of non coding RNA
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	5180954	\N	\N	EFO	7	EFO	planned process	RNA-seq of non coding RNA
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	2024888	\N	\N	EFO	4	EFO	assay	RNA-seq of non coding RNA
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	2024889	\N	\N	EFO	4	EFO	assay by instrument	RNA-seq of non coding RNA
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	5817361	\N	\N	EFO	8	EFO	process	RNA-seq of non coding RNA
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	4387883	\N	\N	EFO	6	EFO	experimental process	RNA-seq of non coding RNA
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	3177731	\N	\N	EFO	5	EFO	assay	RNA-seq of non coding RNA
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003737	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	6409743	\N	\N	EFO	9	EFO	experimental factor	RNA-seq of non coding RNA
EFO:0003738	\N	\N	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	65807	\N	\N	EFO	0	EFO	RNA-seq of coding RNA	RNA-seq of coding RNA
EFO:0002770	EFO:0003738	\N	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	207021	\N	\N	EFO	1	EFO	transcription profiling by high throughput sequencing	RNA-seq of coding RNA
EFO:0001032	EFO:0002770	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	560121	\N	\N	EFO	2	EFO	transcription profiling	RNA-seq of coding RNA
EFO:0001457	EFO:0002770	\N	"An assay with input RNA" []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	560122	\N	\N	EFO	2	EFO	RNA assay	RNA-seq of coding RNA
EFO:0002697	EFO:0002770	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	560123	\N	\N	EFO	2	EFO	assay by high throughput sequencer	RNA-seq of coding RNA
EFO:0004120	EFO:0002770	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	560124	\N	\N	EFO	2	EFO	ArrayExpress experiment type	RNA-seq of coding RNA
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	1141996	\N	\N	EFO	3	EFO	experimental process	RNA-seq of coding RNA
EFO:0002772	EFO:0001457	\N	"" []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	1141997	\N	\N	EFO	3	EFO	assay by molecule	RNA-seq of coding RNA
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	1141998	\N	\N	EFO	3	EFO	assay by sequencer	RNA-seq of coding RNA
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	1141999	\N	\N	EFO	3	EFO	experimental process	RNA-seq of coding RNA
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	5180955	\N	\N	EFO	7	EFO	planned process	RNA-seq of coding RNA
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	2024891	\N	\N	EFO	4	EFO	assay	RNA-seq of coding RNA
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	2024892	\N	\N	EFO	4	EFO	assay by instrument	RNA-seq of coding RNA
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	5817362	\N	\N	EFO	8	EFO	process	RNA-seq of coding RNA
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	4387886	\N	\N	EFO	6	EFO	experimental process	RNA-seq of coding RNA
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	3177734	\N	\N	EFO	5	EFO	assay	RNA-seq of coding RNA
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003738	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	6409744	\N	\N	EFO	9	EFO	experimental factor	RNA-seq of coding RNA
EFO:0003739	\N	\N	"" []	EFO:0003739	"" []	65808	\N	\N	EFO	0	EFO	sequencer	sequencer
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0003739	"" []	207022	\N	\N	EFO	1	EFO	instrument	sequencer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003739	"" []	560125	\N	\N	EFO	2	EFO	material entity	sequencer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003739	"" []	1142000	\N	\N	EFO	3	EFO	experimental factor	sequencer
EFO:0003740	\N	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003740	"an assay that exploits a sequencer as the instrumebt to find the results" []	65809	\N	\N	EFO	0	EFO	assay by sequencer	assay by sequencer
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003740	"an assay that exploits a sequencer as the instrumebt to find the results" []	207023	\N	\N	EFO	1	EFO	assay by instrument	assay by sequencer
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003740	"an assay that exploits a sequencer as the instrumebt to find the results" []	560126	\N	\N	EFO	2	EFO	assay	assay by sequencer
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003740	"an assay that exploits a sequencer as the instrumebt to find the results" []	1142001	\N	\N	EFO	3	EFO	experimental process	assay by sequencer
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003740	"an assay that exploits a sequencer as the instrumebt to find the results" []	2024893	\N	\N	EFO	4	EFO	planned process	assay by sequencer
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003740	"an assay that exploits a sequencer as the instrumebt to find the results" []	3177735	\N	\N	EFO	5	EFO	process	assay by sequencer
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003740	"an assay that exploits a sequencer as the instrumebt to find the results" []	4387887	\N	\N	EFO	6	EFO	experimental factor	assay by sequencer
EFO:0003741	\N	\N	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	65810	\N	\N	EFO	0	EFO	pooled clone sequencing	pooled clone sequencing
EFO:0001456	EFO:0003741	\N	"An assay with input DNA" []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	207024	\N	\N	EFO	1	EFO	DNA assay	pooled clone sequencing
EFO:0002697	EFO:0003741	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	207025	\N	\N	EFO	1	EFO	assay by high throughput sequencer	pooled clone sequencing
EFO:0004102	EFO:0003741	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	207026	\N	\N	EFO	1	EFO	seq library strategy	pooled clone sequencing
EFO:0002772	EFO:0001456	\N	"" []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	560127	\N	\N	EFO	2	EFO	assay by molecule	pooled clone sequencing
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	560128	\N	\N	EFO	2	EFO	assay by sequencer	pooled clone sequencing
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	560129	\N	\N	EFO	2	EFO	assay	pooled clone sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	1142002	\N	\N	EFO	3	EFO	assay	pooled clone sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	1142003	\N	\N	EFO	3	EFO	assay by instrument	pooled clone sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	3177736	\N	\N	EFO	5	EFO	experimental process	pooled clone sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	2024895	\N	\N	EFO	4	EFO	assay	pooled clone sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	4066706	\N	\N	EFO	6	EFO	planned process	pooled clone sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	5059344	\N	\N	EFO	7	EFO	process	pooled clone sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003741	"An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology." []	5876531	\N	\N	EFO	8	EFO	experimental factor	pooled clone sequencing
EFO:0003742	\N	\N	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	65811	\N	\N	EFO	0	EFO	clone by clone sequencing	clone by clone sequencing
EFO:0001456	EFO:0003742	\N	"An assay with input DNA" []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	207027	\N	\N	EFO	1	EFO	DNA assay	clone by clone sequencing
EFO:0003740	EFO:0003742	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	207028	\N	\N	EFO	1	EFO	assay by sequencer	clone by clone sequencing
EFO:0004102	EFO:0003742	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	207029	\N	\N	EFO	1	EFO	seq library strategy	clone by clone sequencing
EFO:0002772	EFO:0001456	\N	"" []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	560130	\N	\N	EFO	2	EFO	assay by molecule	clone by clone sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	560131	\N	\N	EFO	2	EFO	assay by instrument	clone by clone sequencing
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	560132	\N	\N	EFO	2	EFO	assay	clone by clone sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	1142005	\N	\N	EFO	3	EFO	assay	clone by clone sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	1142006	\N	\N	EFO	3	EFO	assay	clone by clone sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	2024897	\N	\N	EFO	4	EFO	experimental process	clone by clone sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	2999546	\N	\N	EFO	5	EFO	planned process	clone by clone sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	4132623	\N	\N	EFO	6	EFO	process	clone by clone sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003742	"An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments." []	5180957	\N	\N	EFO	7	EFO	experimental factor	clone by clone sequencing
EFO:0003743	\N	\N	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	65812	\N	\N	EFO	0	EFO	clone end sequencing	clone end sequencing
EFO:0001456	EFO:0003743	\N	"An assay with input DNA" []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	207030	\N	\N	EFO	1	EFO	DNA assay	clone end sequencing
EFO:0003740	EFO:0003743	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	207031	\N	\N	EFO	1	EFO	assay by sequencer	clone end sequencing
EFO:0004102	EFO:0003743	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	207032	\N	\N	EFO	1	EFO	seq library strategy	clone end sequencing
EFO:0002772	EFO:0001456	\N	"" []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	560133	\N	\N	EFO	2	EFO	assay by molecule	clone end sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	560134	\N	\N	EFO	2	EFO	assay by instrument	clone end sequencing
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	560135	\N	\N	EFO	2	EFO	assay	clone end sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	1142008	\N	\N	EFO	3	EFO	assay	clone end sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	1142009	\N	\N	EFO	3	EFO	assay	clone end sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	2024899	\N	\N	EFO	4	EFO	experimental process	clone end sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	2999547	\N	\N	EFO	5	EFO	planned process	clone end sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	4132624	\N	\N	EFO	6	EFO	process	clone end sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003743	"An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced" []	5180958	\N	\N	EFO	7	EFO	experimental factor	clone end sequencing
EFO:0003744	\N	\N	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	65813	\N	\N	EFO	0	EFO	whole genome shotgun sequencing	whole genome shotgun sequencing
EFO:0001456	EFO:0003744	\N	"An assay with input DNA" []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	207033	\N	\N	EFO	1	EFO	DNA assay	whole genome shotgun sequencing
EFO:0003740	EFO:0003744	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	207034	\N	\N	EFO	1	EFO	assay by sequencer	whole genome shotgun sequencing
EFO:0004102	EFO:0003744	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	207035	\N	\N	EFO	1	EFO	seq library strategy	whole genome shotgun sequencing
EFO:0002772	EFO:0001456	\N	"" []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	560136	\N	\N	EFO	2	EFO	assay by molecule	whole genome shotgun sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	560137	\N	\N	EFO	2	EFO	assay by instrument	whole genome shotgun sequencing
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	560138	\N	\N	EFO	2	EFO	assay	whole genome shotgun sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	1142011	\N	\N	EFO	3	EFO	assay	whole genome shotgun sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	1142012	\N	\N	EFO	3	EFO	assay	whole genome shotgun sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	2024901	\N	\N	EFO	4	EFO	experimental process	whole genome shotgun sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	2999548	\N	\N	EFO	5	EFO	planned process	whole genome shotgun sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	4132625	\N	\N	EFO	6	EFO	process	whole genome shotgun sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003744	"An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced" []	5180959	\N	\N	EFO	7	EFO	experimental factor	whole genome shotgun sequencing
EFO:0003745	\N	\N	"An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." []	EFO:0003745	"An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." []	65814	\N	\N	EFO	0	EFO	random chromosome sequencing	random chromosome sequencing
EFO:0001456	EFO:0003745	\N	"An assay with input DNA" []	EFO:0003745	"An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." []	207036	\N	\N	EFO	1	EFO	DNA assay	random chromosome sequencing
EFO:0003740	EFO:0003745	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003745	"An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." []	207037	\N	\N	EFO	1	EFO	assay by sequencer	random chromosome sequencing
EFO:0002772	EFO:0001456	\N	"" []	EFO:0003745	"An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." []	560139	\N	\N	EFO	2	EFO	assay by molecule	random chromosome sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003745	"An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." []	560140	\N	\N	EFO	2	EFO	assay by instrument	random chromosome sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003745	"An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." []	1142014	\N	\N	EFO	3	EFO	assay	random chromosome sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003745	"An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." []	1142015	\N	\N	EFO	3	EFO	assay	random chromosome sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003745	"An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." []	2024903	\N	\N	EFO	4	EFO	experimental process	random chromosome sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003745	"An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." []	3177741	\N	\N	EFO	5	EFO	planned process	random chromosome sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003745	"An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." []	4387892	\N	\N	EFO	6	EFO	process	random chromosome sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003745	"An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome." []	5408661	\N	\N	EFO	7	EFO	experimental factor	random chromosome sequencing
EFO:0003746	\N	\N	"An assay in which DNA is the input molecule derived from exons is sequenced." []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	65815	\N	\N	EFO	0	EFO	random exon sequencing	random exon sequencing
EFO:0001456	EFO:0003746	\N	"An assay with input DNA" []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	207038	\N	\N	EFO	1	EFO	DNA assay	random exon sequencing
EFO:0003740	EFO:0003746	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	207039	\N	\N	EFO	1	EFO	assay by sequencer	random exon sequencing
EFO:0004102	EFO:0003746	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	207040	\N	\N	EFO	1	EFO	seq library strategy	random exon sequencing
EFO:0002772	EFO:0001456	\N	"" []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	560141	\N	\N	EFO	2	EFO	assay by molecule	random exon sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	560142	\N	\N	EFO	2	EFO	assay by instrument	random exon sequencing
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	560143	\N	\N	EFO	2	EFO	assay	random exon sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	1142016	\N	\N	EFO	3	EFO	assay	random exon sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	1142017	\N	\N	EFO	3	EFO	assay	random exon sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	2024904	\N	\N	EFO	4	EFO	experimental process	random exon sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	2999549	\N	\N	EFO	5	EFO	planned process	random exon sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	4132626	\N	\N	EFO	6	EFO	process	random exon sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003746	"An assay in which DNA is the input molecule derived from exons is sequenced." []	5180960	\N	\N	EFO	7	EFO	experimental factor	random exon sequencing
EFO:0003747	\N	\N	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	EFO:0003747	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	65816	\N	\N	EFO	0	EFO	amplicon sequencing	amplicon sequencing
EFO:0002772	EFO:0003747	\N	"" []	EFO:0003747	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	207041	\N	\N	EFO	1	EFO	assay by molecule	amplicon sequencing
EFO:0003740	EFO:0003747	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003747	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	207042	\N	\N	EFO	1	EFO	assay by sequencer	amplicon sequencing
EFO:0004102	EFO:0003747	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003747	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	207043	\N	\N	EFO	1	EFO	seq library strategy	amplicon sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003747	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	560144	\N	\N	EFO	2	EFO	assay	amplicon sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003747	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	560145	\N	\N	EFO	2	EFO	assay by instrument	amplicon sequencing
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003747	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	560146	\N	\N	EFO	2	EFO	assay	amplicon sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003747	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	2024907	\N	\N	EFO	4	EFO	experimental process	amplicon sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003747	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	1142020	\N	\N	EFO	3	EFO	assay	amplicon sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003747	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	2999550	\N	\N	EFO	5	EFO	planned process	amplicon sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003747	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	4132627	\N	\N	EFO	6	EFO	process	amplicon sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003747	"An assay in which a DNA or RNA input molecule amplified by PCR is sequenced." []	5180961	\N	\N	EFO	7	EFO	experimental factor	amplicon sequencing
EFO:0003748	\N	\N	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	65817	\N	\N	EFO	0	EFO	MRE-seq	MRE-seq
EFO:0001456	EFO:0003748	\N	"An assay with input DNA" []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	207044	\N	\N	EFO	1	EFO	DNA assay	MRE-seq
EFO:0003740	EFO:0003748	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	207045	\N	\N	EFO	1	EFO	assay by sequencer	MRE-seq
EFO:0004102	EFO:0003748	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	207046	\N	\N	EFO	1	EFO	seq library strategy	MRE-seq
EFO:0002772	EFO:0001456	\N	"" []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	560147	\N	\N	EFO	2	EFO	assay by molecule	MRE-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	560148	\N	\N	EFO	2	EFO	assay by instrument	MRE-seq
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	560149	\N	\N	EFO	2	EFO	assay	MRE-seq
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	1142021	\N	\N	EFO	3	EFO	assay	MRE-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	1142022	\N	\N	EFO	3	EFO	assay	MRE-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	2024908	\N	\N	EFO	4	EFO	experimental process	MRE-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	2999551	\N	\N	EFO	5	EFO	planned process	MRE-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	4132628	\N	\N	EFO	6	EFO	process	MRE-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003748	"An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing" []	5180962	\N	\N	EFO	7	EFO	experimental factor	MRE-seq
EFO:0003749	\N	\N	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	65818	\N	\N	EFO	0	EFO	MeDIP-seq	MeDIP-seq
EFO:0001456	EFO:0003749	\N	"An assay with input DNA" []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	207047	\N	\N	EFO	1	EFO	DNA assay	MeDIP-seq
EFO:0002697	EFO:0003749	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	207048	\N	\N	EFO	1	EFO	assay by high throughput sequencer	MeDIP-seq
EFO:0004102	EFO:0003749	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	207049	\N	\N	EFO	1	EFO	seq library strategy	MeDIP-seq
EFO:0002772	EFO:0001456	\N	"" []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	560150	\N	\N	EFO	2	EFO	assay by molecule	MeDIP-seq
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	560151	\N	\N	EFO	2	EFO	assay by sequencer	MeDIP-seq
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	560152	\N	\N	EFO	2	EFO	assay	MeDIP-seq
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	1142024	\N	\N	EFO	3	EFO	assay	MeDIP-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	1142025	\N	\N	EFO	3	EFO	assay by instrument	MeDIP-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	3177745	\N	\N	EFO	5	EFO	experimental process	MeDIP-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	2024911	\N	\N	EFO	4	EFO	assay	MeDIP-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	4066707	\N	\N	EFO	6	EFO	planned process	MeDIP-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	5059345	\N	\N	EFO	7	EFO	process	MeDIP-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003749	"An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology." []	5876532	\N	\N	EFO	8	EFO	experimental factor	MeDIP-seq
EFO:0003750	\N	\N	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	65819	\N	\N	EFO	0	EFO	MBD-seq	MBD-seq
EFO:0001456	EFO:0003750	\N	"An assay with input DNA" []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	207050	\N	\N	EFO	1	EFO	DNA assay	MBD-seq
EFO:0002697	EFO:0003750	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	207051	\N	\N	EFO	1	EFO	assay by high throughput sequencer	MBD-seq
EFO:0004102	EFO:0003750	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	207052	\N	\N	EFO	1	EFO	seq library strategy	MBD-seq
EFO:0002772	EFO:0001456	\N	"" []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	560153	\N	\N	EFO	2	EFO	assay by molecule	MBD-seq
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	560154	\N	\N	EFO	2	EFO	assay by sequencer	MBD-seq
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	560155	\N	\N	EFO	2	EFO	assay	MBD-seq
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	1142027	\N	\N	EFO	3	EFO	assay	MBD-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	1142028	\N	\N	EFO	3	EFO	assay by instrument	MBD-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	3177747	\N	\N	EFO	5	EFO	experimental process	MBD-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	2024914	\N	\N	EFO	4	EFO	assay	MBD-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	4066708	\N	\N	EFO	6	EFO	planned process	MBD-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	5059346	\N	\N	EFO	7	EFO	process	MBD-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003750	"An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing." []	5876533	\N	\N	EFO	8	EFO	experimental factor	MBD-seq
EFO:0003751	\N	\N	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	65820	\N	\N	EFO	0	EFO	MNase-seq	MNase-seq
EFO:0001456	EFO:0003751	\N	"An assay with input DNA" []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	207053	\N	\N	EFO	1	EFO	DNA assay	MNase-seq
EFO:0003740	EFO:0003751	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	207054	\N	\N	EFO	1	EFO	assay by sequencer	MNase-seq
EFO:0004102	EFO:0003751	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	207055	\N	\N	EFO	1	EFO	seq library strategy	MNase-seq
EFO:0002772	EFO:0001456	\N	"" []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	560156	\N	\N	EFO	2	EFO	assay by molecule	MNase-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	560157	\N	\N	EFO	2	EFO	assay by instrument	MNase-seq
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	560158	\N	\N	EFO	2	EFO	assay	MNase-seq
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	1142030	\N	\N	EFO	3	EFO	assay	MNase-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	1142031	\N	\N	EFO	3	EFO	assay	MNase-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	2024916	\N	\N	EFO	4	EFO	experimental process	MNase-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	2999554	\N	\N	EFO	5	EFO	planned process	MNase-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	4132631	\N	\N	EFO	6	EFO	process	MNase-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003751	"An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA." []	5180965	\N	\N	EFO	7	EFO	experimental factor	MNase-seq
EFO:0003752	\N	\N	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	65821	\N	\N	EFO	0	EFO	DNase-Hypersensitivity seq	DNase-Hypersensitivity seq
EFO:0001456	EFO:0003752	\N	"An assay with input DNA" []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	207056	\N	\N	EFO	1	EFO	DNA assay	DNase-Hypersensitivity seq
EFO:0003740	EFO:0003752	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	207057	\N	\N	EFO	1	EFO	assay by sequencer	DNase-Hypersensitivity seq
EFO:0004102	EFO:0003752	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	207058	\N	\N	EFO	1	EFO	seq library strategy	DNase-Hypersensitivity seq
EFO:0002772	EFO:0001456	\N	"" []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	560159	\N	\N	EFO	2	EFO	assay by molecule	DNase-Hypersensitivity seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	560160	\N	\N	EFO	2	EFO	assay by instrument	DNase-Hypersensitivity seq
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	560161	\N	\N	EFO	2	EFO	assay	DNase-Hypersensitivity seq
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	1142033	\N	\N	EFO	3	EFO	assay	DNase-Hypersensitivity seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	1142034	\N	\N	EFO	3	EFO	assay	DNase-Hypersensitivity seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	2024918	\N	\N	EFO	4	EFO	experimental process	DNase-Hypersensitivity seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	2999555	\N	\N	EFO	5	EFO	planned process	DNase-Hypersensitivity seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	4132632	\N	\N	EFO	6	EFO	process	DNase-Hypersensitivity seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003752	"An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements." []	5180966	\N	\N	EFO	7	EFO	experimental factor	DNase-Hypersensitivity seq
EFO:0003753	\N	\N	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	65822	\N	\N	EFO	0	EFO	Bisulfite-seq	Bisulfite-seq
EFO:0001456	EFO:0003753	\N	"An assay with input DNA" []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	207059	\N	\N	EFO	1	EFO	DNA assay	Bisulfite-seq
EFO:0003740	EFO:0003753	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	207060	\N	\N	EFO	1	EFO	assay by sequencer	Bisulfite-seq
EFO:0004102	EFO:0003753	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	207061	\N	\N	EFO	1	EFO	seq library strategy	Bisulfite-seq
EFO:0002772	EFO:0001456	\N	"" []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	560162	\N	\N	EFO	2	EFO	assay by molecule	Bisulfite-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	560163	\N	\N	EFO	2	EFO	assay by instrument	Bisulfite-seq
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	560164	\N	\N	EFO	2	EFO	assay	Bisulfite-seq
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	1142036	\N	\N	EFO	3	EFO	assay	Bisulfite-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	1142037	\N	\N	EFO	3	EFO	assay	Bisulfite-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	2024920	\N	\N	EFO	4	EFO	experimental process	Bisulfite-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	2999556	\N	\N	EFO	5	EFO	planned process	Bisulfite-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	4132633	\N	\N	EFO	6	EFO	process	Bisulfite-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003753	"An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status." []	5180967	\N	\N	EFO	7	EFO	experimental factor	Bisulfite-seq
EFO:0003754	\N	\N	"An assay in which RNA derived from an EST is sequenced" []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	65823	\N	\N	EFO	0	EFO	EST sequencing	EST sequencing
EFO:0001457	EFO:0003754	\N	"An assay with input RNA" []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	207062	\N	\N	EFO	1	EFO	RNA assay	EST sequencing
EFO:0003740	EFO:0003754	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	207063	\N	\N	EFO	1	EFO	assay by sequencer	EST sequencing
EFO:0004102	EFO:0003754	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	207064	\N	\N	EFO	1	EFO	seq library strategy	EST sequencing
EFO:0002772	EFO:0001457	\N	"" []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	560165	\N	\N	EFO	2	EFO	assay by molecule	EST sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	560166	\N	\N	EFO	2	EFO	assay by instrument	EST sequencing
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	560167	\N	\N	EFO	2	EFO	assay	EST sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	1142039	\N	\N	EFO	3	EFO	assay	EST sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	1142040	\N	\N	EFO	3	EFO	assay	EST sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	2024922	\N	\N	EFO	4	EFO	experimental process	EST sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	2999557	\N	\N	EFO	5	EFO	planned process	EST sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	4132634	\N	\N	EFO	6	EFO	process	EST sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003754	"An assay in which RNA derived from an EST is sequenced" []	5180968	\N	\N	EFO	7	EFO	experimental factor	EST sequencing
EFO:0003755	\N	\N	"An assay in which RNA derived from a full length cDNA template is sequenced" []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	65824	\N	\N	EFO	0	EFO	FL-cDNA	FL-cDNA
EFO:0001457	EFO:0003755	\N	"An assay with input RNA" []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	207065	\N	\N	EFO	1	EFO	RNA assay	FL-cDNA
EFO:0003740	EFO:0003755	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	207066	\N	\N	EFO	1	EFO	assay by sequencer	FL-cDNA
EFO:0004102	EFO:0003755	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	207067	\N	\N	EFO	1	EFO	seq library strategy	FL-cDNA
EFO:0002772	EFO:0001457	\N	"" []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	560168	\N	\N	EFO	2	EFO	assay by molecule	FL-cDNA
EFO:0002773	EFO:0003740	\N	"" []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	560169	\N	\N	EFO	2	EFO	assay by instrument	FL-cDNA
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	560170	\N	\N	EFO	2	EFO	assay	FL-cDNA
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	1142042	\N	\N	EFO	3	EFO	assay	FL-cDNA
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	1142043	\N	\N	EFO	3	EFO	assay	FL-cDNA
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	2024924	\N	\N	EFO	4	EFO	experimental process	FL-cDNA
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	2999558	\N	\N	EFO	5	EFO	planned process	FL-cDNA
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	4132635	\N	\N	EFO	6	EFO	process	FL-cDNA
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003755	"An assay in which RNA derived from a full length cDNA template is sequenced" []	5180969	\N	\N	EFO	7	EFO	experimental factor	FL-cDNA
EFO:0003756	\N	\N	"Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)" []	EFO:0003756	"Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)" []	65825	\N	\N	EFO	0	EFO	autism spectrum disorder	autism spectrum disorder
EFO:0000618	EFO:0003756	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003756	"Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)" []	207068	\N	\N	EFO	1	EFO	nervous system disease	autism spectrum disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003756	"Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)" []	560171	\N	\N	EFO	2	EFO	disease	autism spectrum disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003756	"Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)" []	1142045	\N	\N	EFO	3	EFO	disposition	autism spectrum disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003756	"Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)" []	2024926	\N	\N	EFO	4	EFO	material property	autism spectrum disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003756	"Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)" []	3177754	\N	\N	EFO	5	EFO	experimental factor	autism spectrum disorder
EFO:0003757	\N	\N	"An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." []	EFO:0003757	"An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." []	65826	\N	\N	EFO	0	EFO	Asperger syndrome	Asperger syndrome
EFO:0003756	EFO:0003757	\N	"Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)" []	EFO:0003757	"An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." []	207069	\N	\N	EFO	1	EFO	autism spectrum disorder	Asperger syndrome
EFO:0000618	EFO:0003756	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003757	"An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." []	560172	\N	\N	EFO	2	EFO	nervous system disease	Asperger syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003757	"An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." []	1142046	\N	\N	EFO	3	EFO	disease	Asperger syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003757	"An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." []	2024927	\N	\N	EFO	4	EFO	disposition	Asperger syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003757	"An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." []	3177755	\N	\N	EFO	5	EFO	material property	Asperger syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003757	"An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." []	4387903	\N	\N	EFO	6	EFO	experimental factor	Asperger syndrome
EFO:0003758	\N	\N	"An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old." []	EFO:0003758	"An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old." []	65827	\N	\N	EFO	0	EFO	autism	autism
EFO:0003756	EFO:0003758	\N	"Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)" []	EFO:0003758	"An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old." []	207070	\N	\N	EFO	1	EFO	autism spectrum disorder	autism
EFO:0000618	EFO:0003756	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003758	"An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old." []	560173	\N	\N	EFO	2	EFO	nervous system disease	autism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003758	"An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old." []	1142047	\N	\N	EFO	3	EFO	disease	autism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003758	"An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old." []	2024928	\N	\N	EFO	4	EFO	disposition	autism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003758	"An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old." []	3177756	\N	\N	EFO	5	EFO	material property	autism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003758	"An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old." []	4387904	\N	\N	EFO	6	EFO	experimental factor	autism
EFO:0003759	\N	\N	"An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." []	EFO:0003759	"An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." []	65828	\N	\N	EFO	0	EFO	pervasive developmental disorder - not otherwise specified	pervasive developmental disorder - not otherwise specified
EFO:0003756	EFO:0003759	\N	"Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)" []	EFO:0003759	"An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." []	207071	\N	\N	EFO	1	EFO	autism spectrum disorder	pervasive developmental disorder - not otherwise specified
EFO:0000618	EFO:0003756	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003759	"An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." []	560174	\N	\N	EFO	2	EFO	nervous system disease	pervasive developmental disorder - not otherwise specified
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003759	"An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." []	1142048	\N	\N	EFO	3	EFO	disease	pervasive developmental disorder - not otherwise specified
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003759	"An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." []	2024929	\N	\N	EFO	4	EFO	disposition	pervasive developmental disorder - not otherwise specified
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003759	"An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." []	3177757	\N	\N	EFO	5	EFO	material property	pervasive developmental disorder - not otherwise specified
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003759	"An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." []	4387905	\N	\N	EFO	6	EFO	experimental factor	pervasive developmental disorder - not otherwise specified
EFO:0003760	\N	\N	"Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement." []	EFO:0003760	"Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement." []	65829	\N	\N	EFO	0	EFO	central nervous system cyst	central nervous system cyst
EFO:0005774	EFO:0003760	\N	"A disease affecting the brain or part of the brain." []	EFO:0003760	"Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement." []	207072	\N	\N	EFO	1	EFO	brain disease	central nervous system cyst
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003760	"Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement." []	560175	\N	\N	EFO	2	EFO	nervous system disease	central nervous system cyst
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003760	"Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement." []	1142049	\N	\N	EFO	3	EFO	disease	central nervous system cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003760	"Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement." []	2024930	\N	\N	EFO	4	EFO	disposition	central nervous system cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003760	"Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement." []	3177758	\N	\N	EFO	5	EFO	material property	central nervous system cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003760	"Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement." []	4387906	\N	\N	EFO	6	EFO	experimental factor	central nervous system cyst
EFO:0003761	\N	\N	"A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." []	EFO:0003761	"A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." []	65830	\N	\N	EFO	0	EFO	unipolar depression	unipolar depression
EFO:0004247	EFO:0003761	\N	"Those disorders that have a disturbance in mood as their predominant feature." []	EFO:0003761	"A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." []	207073	\N	\N	EFO	1	EFO	mood disorder	unipolar depression
EFO:0000677	EFO:0004247	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0003761	"A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." []	560176	\N	\N	EFO	2	EFO	mental or behavioural disorder	unipolar depression
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0003761	"A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." []	1142050	\N	\N	EFO	3	EFO	brain disease	unipolar depression
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003761	"A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." []	2024931	\N	\N	EFO	4	EFO	nervous system disease	unipolar depression
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003761	"A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." []	3177759	\N	\N	EFO	5	EFO	disease	unipolar depression
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003761	"A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." []	4387907	\N	\N	EFO	6	EFO	disposition	unipolar depression
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003761	"A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." []	5408662	\N	\N	EFO	7	EFO	material property	unipolar depression
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003761	"A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." []	6147456	\N	\N	EFO	8	EFO	experimental factor	unipolar depression
EFO:0003762	\N	\N	"A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)" []	EFO:0003762	"A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)" []	65831	\N	\N	EFO	0	EFO	vitamin D deficiency	vitamin D deficiency
EFO:0005878	EFO:0003762	\N	"A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." []	EFO:0003762	"A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)" []	207074	\N	\N	EFO	1	EFO	vitamin deficiency	vitamin D deficiency
EFO:0003763	\N	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0003763	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	65832	\N	\N	EFO	0	EFO	cerebrovascular disorder	cerebrovascular disorder
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0003763	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	207075	\N	\N	EFO	1	EFO	vascular disease	cerebrovascular disorder
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003763	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	560177	\N	\N	EFO	2	EFO	cardiovascular disease	cerebrovascular disorder
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003763	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	1142051	\N	\N	EFO	3	EFO	disease	cerebrovascular disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003763	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	2024932	\N	\N	EFO	4	EFO	disposition	cerebrovascular disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003763	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	3177760	\N	\N	EFO	5	EFO	material property	cerebrovascular disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003763	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	4387908	\N	\N	EFO	6	EFO	experimental factor	cerebrovascular disorder
EFO:0003764	\N	\N	"Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)" []	EFO:0003764	"Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)" []	65833	\N	\N	EFO	0	EFO	transient ischemic attack	transient ischemic attack
EFO:0003763	EFO:0003764	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0003764	"Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)" []	207076	\N	\N	EFO	1	EFO	cerebrovascular disorder	transient ischemic attack
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0003764	"Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)" []	560178	\N	\N	EFO	2	EFO	vascular disease	transient ischemic attack
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003764	"Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)" []	1142052	\N	\N	EFO	3	EFO	cardiovascular disease	transient ischemic attack
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003764	"Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)" []	2024933	\N	\N	EFO	4	EFO	disease	transient ischemic attack
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003764	"Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)" []	3177761	\N	\N	EFO	5	EFO	disposition	transient ischemic attack
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003764	"Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)" []	4387909	\N	\N	EFO	6	EFO	material property	transient ischemic attack
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003764	"Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)" []	5408663	\N	\N	EFO	7	EFO	experimental factor	transient ischemic attack
EFO:0003765	\N	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0003765	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	65834	\N	\N	EFO	0	EFO	sign or symptom	sign or symptom
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003765	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	207077	\N	\N	EFO	1	EFO	phenotype	sign or symptom
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003765	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	560179	\N	\N	EFO	2	EFO	quality	sign or symptom
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003765	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	1142053	\N	\N	EFO	3	EFO	material property	sign or symptom
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003765	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	2024934	\N	\N	EFO	4	EFO	experimental factor	sign or symptom
EFO:0003766	\N	\N	"Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases." []	EFO:0003766	"Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases." []	65835	\N	\N	EFO	0	EFO	pain in abdomen	pain in abdomen
EFO:0003843	EFO:0003766	\N	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	EFO:0003766	"Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases." []	207078	\N	\N	EFO	1	EFO	pain	pain in abdomen
EFO:0003765	EFO:0003843	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0003766	"Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases." []	560180	\N	\N	EFO	2	EFO	sign or symptom	pain in abdomen
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003766	"Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases." []	1142054	\N	\N	EFO	3	EFO	phenotype	pain in abdomen
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003766	"Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases." []	2024935	\N	\N	EFO	4	EFO	quality	pain in abdomen
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003766	"Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases." []	3177762	\N	\N	EFO	5	EFO	material property	pain in abdomen
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003766	"Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases." []	4387910	\N	\N	EFO	6	EFO	experimental factor	pain in abdomen
EFO:0003767	\N	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:0003767	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	65836	\N	\N	EFO	0	EFO	inflammatory bowel disease	inflammatory bowel disease
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003767	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	207079	\N	\N	EFO	1	EFO	digestive system disease	inflammatory bowel disease
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0003767	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	207080	\N	\N	EFO	1	EFO	autoimmune disease	inflammatory bowel disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003767	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	560181	\N	\N	EFO	2	EFO	disease	inflammatory bowel disease
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003767	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	560182	\N	\N	EFO	2	EFO	immune system disease	inflammatory bowel disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003767	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	2024937	\N	\N	EFO	4	EFO	disposition	inflammatory bowel disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003767	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	1142056	\N	\N	EFO	3	EFO	disease	inflammatory bowel disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003767	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	2999559	\N	\N	EFO	5	EFO	material property	inflammatory bowel disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003767	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	4132636	\N	\N	EFO	6	EFO	experimental factor	inflammatory bowel disease
EFO:0003768	\N	\N	"Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." []	EFO:0003768	"Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." []	65837	\N	\N	EFO	0	EFO	nicotine dependence	nicotine dependence
EFO:0003890	EFO:0003768	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0003768	"Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." []	207081	\N	\N	EFO	1	EFO	drug dependence	nicotine dependence
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0003768	"Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." []	560183	\N	\N	EFO	2	EFO	mental or behavioural disorder	nicotine dependence
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0003768	"Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." []	1142057	\N	\N	EFO	3	EFO	brain disease	nicotine dependence
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003768	"Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." []	2024938	\N	\N	EFO	4	EFO	nervous system disease	nicotine dependence
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003768	"Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." []	3177764	\N	\N	EFO	5	EFO	disease	nicotine dependence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003768	"Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." []	4387911	\N	\N	EFO	6	EFO	disposition	nicotine dependence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003768	"Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." []	5408664	\N	\N	EFO	7	EFO	material property	nicotine dependence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003768	"Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." []	6147457	\N	\N	EFO	8	EFO	experimental factor	nicotine dependence
EFO:0003769	\N	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0003769	"Tumors or cancer of the ENDOCRINE GLANDS." []	65838	\N	\N	EFO	0	EFO	endocrine neoplasm	endocrine neoplasm
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003769	"Tumors or cancer of the ENDOCRINE GLANDS." []	207082	\N	\N	EFO	1	EFO	neoplasm	endocrine neoplasm
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0003769	"Tumors or cancer of the ENDOCRINE GLANDS." []	207083	\N	\N	EFO	1	EFO	endocrine system disease	endocrine neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003769	"Tumors or cancer of the ENDOCRINE GLANDS." []	560184	\N	\N	EFO	2	EFO	disease	endocrine neoplasm
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003769	"Tumors or cancer of the ENDOCRINE GLANDS." []	560185	\N	\N	EFO	2	EFO	disease	endocrine neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003769	"Tumors or cancer of the ENDOCRINE GLANDS." []	1142058	\N	\N	EFO	3	EFO	disposition	endocrine neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003769	"Tumors or cancer of the ENDOCRINE GLANDS." []	2024939	\N	\N	EFO	4	EFO	material property	endocrine neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003769	"Tumors or cancer of the ENDOCRINE GLANDS." []	3177765	\N	\N	EFO	5	EFO	experimental factor	endocrine neoplasm
EFO:0003770	\N	\N	"Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." []	EFO:0003770	"Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." []	65839	\N	\N	EFO	0	EFO	diabetic retinopathy	diabetic retinopathy
EFO:0000589	EFO:0003770	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0003770	"Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." []	207084	\N	\N	EFO	1	EFO	metabolic disease	diabetic retinopathy
EFO:0003839	EFO:0003770	\N	"Any disease or disorder of the retina." []	EFO:0003770	"Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." []	207085	\N	\N	EFO	1	EFO	retinopathy	diabetic retinopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003770	"Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." []	560186	\N	\N	EFO	2	EFO	disease	diabetic retinopathy
EFO:0000524	EFO:0003839	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0003770	"Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." []	560187	\N	\N	EFO	2	EFO	head disease	diabetic retinopathy
EFO:0003966	EFO:0003839	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0003770	"Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." []	560188	\N	\N	EFO	2	EFO	eye disease	diabetic retinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003770	"Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." []	2024941	\N	\N	EFO	4	EFO	disposition	diabetic retinopathy
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003770	"Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." []	1142060	\N	\N	EFO	3	EFO	disease	diabetic retinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003770	"Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." []	1142061	\N	\N	EFO	3	EFO	disease	diabetic retinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003770	"Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." []	2999560	\N	\N	EFO	5	EFO	material property	diabetic retinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003770	"Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." []	4132637	\N	\N	EFO	6	EFO	experimental factor	diabetic retinopathy
EFO:0003774	\N	\N	"Conditions with excess LIPIDS in the blood." []	EFO:0003774	"Conditions with excess LIPIDS in the blood." []	65840	\N	\N	EFO	0	EFO	hyperlipidemia	hyperlipidemia
HP:0003119	\N	\N	"An abnormality in the of lipid metabolism." [HPO:probinson]	EFO:0003774	"Conditions with excess LIPIDS in the blood." []	194592	\N	\N	EFO	0	EFO	Abnormality of lipid metabolism	hyperlipidemia
EFO:0003775	\N	\N	"Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share." []	EFO:0003775	"Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share." []	65841	\N	\N	EFO	0	EFO	Job's syndrome	Job's syndrome
EFO:0000540	EFO:0003775	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003775	"Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share." []	207086	\N	\N	EFO	1	EFO	immune system disease	Job's syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003775	"Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share." []	560189	\N	\N	EFO	2	EFO	disease	Job's syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003775	"Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share." []	1142062	\N	\N	EFO	3	EFO	disposition	Job's syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003775	"Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share." []	2024942	\N	\N	EFO	4	EFO	material property	Job's syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003775	"Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share." []	3177767	\N	\N	EFO	5	EFO	experimental factor	Job's syndrome
EFO:0003776	\N	\N	"Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion." []	EFO:0003776	"Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion." []	65842	\N	\N	EFO	0	EFO	coronary artery bypass	coronary artery bypass
EFO:0002571	EFO:0003776	\N	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	EFO:0003776	"Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion." []	207087	\N	\N	EFO	1	EFO	medical procedure	coronary artery bypass
EFO:0002694	EFO:0002571	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003776	"Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion." []	560190	\N	\N	EFO	2	EFO	experimental process	coronary artery bypass
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003776	"Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion." []	1142063	\N	\N	EFO	3	EFO	planned process	coronary artery bypass
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003776	"Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion." []	2024943	\N	\N	EFO	4	EFO	process	coronary artery bypass
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003776	"Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion." []	3177768	\N	\N	EFO	5	EFO	experimental factor	coronary artery bypass
EFO:0003777	\N	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0003777	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	65843	\N	\N	EFO	0	EFO	heart disease	heart disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003777	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	207088	\N	\N	EFO	1	EFO	cardiovascular disease	heart disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003777	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	560191	\N	\N	EFO	2	EFO	disease	heart disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003777	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	1142064	\N	\N	EFO	3	EFO	disposition	heart disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003777	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	2024944	\N	\N	EFO	4	EFO	material property	heart disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003777	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	3177769	\N	\N	EFO	5	EFO	experimental factor	heart disease
EFO:0003778	\N	\N	"A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor." []	EFO:0003778	"A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor." []	65844	\N	\N	EFO	0	EFO	psoriatic arthritis	psoriatic arthritis
EFO:0000540	EFO:0003778	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003778	"A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor." []	207089	\N	\N	EFO	1	EFO	immune system disease	psoriatic arthritis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003778	"A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor." []	560192	\N	\N	EFO	2	EFO	disease	psoriatic arthritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003778	"A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor." []	1142065	\N	\N	EFO	3	EFO	disposition	psoriatic arthritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003778	"A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor." []	2024945	\N	\N	EFO	4	EFO	material property	psoriatic arthritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003778	"A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor." []	3177770	\N	\N	EFO	5	EFO	experimental factor	psoriatic arthritis
EFO:0003779	\N	\N	" an autoimmune disease in which the thyroid gland is attacked by a variety of cell- and antibody-mediated immune processes, causing primary hypothyroidism. It was the first disease to be recognized as an autoimmune disease. It was first described by the Japanese specialist Hakaru Hashimoto in a paper published in Germany in 1912.\\n\\n" []	EFO:0003779	" an autoimmune disease in which the thyroid gland is attacked by a variety of cell- and antibody-mediated immune processes, causing primary hypothyroidism. It was the first disease to be recognized as an autoimmune disease. It was first described by the Japanese specialist Hakaru Hashimoto in a paper published in Germany in 1912.\\n\\n" []	65845	\N	\N	EFO	0	EFO	Hashimoto's thyroiditis	Hashimoto's thyroiditis
EFO:0006812	EFO:0003779	\N	"a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroids cells, thereby destroying it.\\n\\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." []	EFO:0003779	" an autoimmune disease in which the thyroid gland is attacked by a variety of cell- and antibody-mediated immune processes, causing primary hypothyroidism. It was the first disease to be recognized as an autoimmune disease. It was first described by the Japanese specialist Hakaru Hashimoto in a paper published in Germany in 1912.\\n\\n" []	207090	\N	\N	EFO	1	EFO	autoimmune thyroid disease	Hashimoto's thyroiditis
EFO:0005140	EFO:0006812	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0003779	" an autoimmune disease in which the thyroid gland is attacked by a variety of cell- and antibody-mediated immune processes, causing primary hypothyroidism. It was the first disease to be recognized as an autoimmune disease. It was first described by the Japanese specialist Hakaru Hashimoto in a paper published in Germany in 1912.\\n\\n" []	560193	\N	\N	EFO	2	EFO	autoimmune disease	Hashimoto's thyroiditis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003779	" an autoimmune disease in which the thyroid gland is attacked by a variety of cell- and antibody-mediated immune processes, causing primary hypothyroidism. It was the first disease to be recognized as an autoimmune disease. It was first described by the Japanese specialist Hakaru Hashimoto in a paper published in Germany in 1912.\\n\\n" []	1142066	\N	\N	EFO	3	EFO	immune system disease	Hashimoto's thyroiditis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003779	" an autoimmune disease in which the thyroid gland is attacked by a variety of cell- and antibody-mediated immune processes, causing primary hypothyroidism. It was the first disease to be recognized as an autoimmune disease. It was first described by the Japanese specialist Hakaru Hashimoto in a paper published in Germany in 1912.\\n\\n" []	2024946	\N	\N	EFO	4	EFO	disease	Hashimoto's thyroiditis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003779	" an autoimmune disease in which the thyroid gland is attacked by a variety of cell- and antibody-mediated immune processes, causing primary hypothyroidism. It was the first disease to be recognized as an autoimmune disease. It was first described by the Japanese specialist Hakaru Hashimoto in a paper published in Germany in 1912.\\n\\n" []	3177771	\N	\N	EFO	5	EFO	disposition	Hashimoto's thyroiditis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003779	" an autoimmune disease in which the thyroid gland is attacked by a variety of cell- and antibody-mediated immune processes, causing primary hypothyroidism. It was the first disease to be recognized as an autoimmune disease. It was first described by the Japanese specialist Hakaru Hashimoto in a paper published in Germany in 1912.\\n\\n" []	4387912	\N	\N	EFO	6	EFO	material property	Hashimoto's thyroiditis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003779	" an autoimmune disease in which the thyroid gland is attacked by a variety of cell- and antibody-mediated immune processes, causing primary hypothyroidism. It was the first disease to be recognized as an autoimmune disease. It was first described by the Japanese specialist Hakaru Hashimoto in a paper published in Germany in 1912.\\n\\n" []	5408665	\N	\N	EFO	7	EFO	experimental factor	Hashimoto's thyroiditis
EFO:0003780	\N	\N	"Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." []	EFO:0003780	"Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." []	65846	\N	\N	EFO	0	EFO	Behcet's syndrome	Behcet's syndrome
EFO:0004264	EFO:0003780	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0003780	"Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." []	207091	\N	\N	EFO	1	EFO	vascular disease	Behcet's syndrome
EFO:0005140	EFO:0003780	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0003780	"Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." []	207092	\N	\N	EFO	1	EFO	autoimmune disease	Behcet's syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003780	"Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." []	560194	\N	\N	EFO	2	EFO	cardiovascular disease	Behcet's syndrome
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003780	"Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." []	560195	\N	\N	EFO	2	EFO	immune system disease	Behcet's syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003780	"Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." []	1142067	\N	\N	EFO	3	EFO	disease	Behcet's syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003780	"Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." []	1142068	\N	\N	EFO	3	EFO	disease	Behcet's syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003780	"Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." []	2024947	\N	\N	EFO	4	EFO	disposition	Behcet's syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003780	"Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." []	3177772	\N	\N	EFO	5	EFO	material property	Behcet's syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003780	"Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well." []	4387913	\N	\N	EFO	6	EFO	experimental factor	Behcet's syndrome
EFO:0003781	\N	\N	"Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." []	EFO:0003781	"Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." []	65847	\N	\N	EFO	0	EFO	carotid artery disease	carotid artery disease
EFO:0004264	EFO:0003781	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0003781	"Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." []	207093	\N	\N	EFO	1	EFO	vascular disease	carotid artery disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003781	"Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." []	560196	\N	\N	EFO	2	EFO	cardiovascular disease	carotid artery disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003781	"Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." []	1142069	\N	\N	EFO	3	EFO	disease	carotid artery disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003781	"Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." []	2024948	\N	\N	EFO	4	EFO	disposition	carotid artery disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003781	"Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." []	3177773	\N	\N	EFO	5	EFO	material property	carotid artery disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003781	"Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." []	4387914	\N	\N	EFO	6	EFO	experimental factor	carotid artery disease
EFO:0003782	\N	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	EFO:0003782	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	65848	\N	\N	EFO	0	EFO	motor neuron disease	motor neuron disease
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:0003782	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	207094	\N	\N	EFO	1	EFO	neurodegenerative disease	motor neuron disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003782	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	560197	\N	\N	EFO	2	EFO	nervous system disease	motor neuron disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003782	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	1142070	\N	\N	EFO	3	EFO	disease	motor neuron disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003782	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	2024949	\N	\N	EFO	4	EFO	disposition	motor neuron disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003782	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	3177774	\N	\N	EFO	5	EFO	material property	motor neuron disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003782	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	4387915	\N	\N	EFO	6	EFO	experimental factor	motor neuron disease
EFO:0003783	\N	\N	"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" []	EFO:0003783	"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" []	65849	\N	\N	EFO	0	EFO	progressive bulbar palsy	progressive bulbar palsy
EFO:0003782	EFO:0003783	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	EFO:0003783	"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" []	207095	\N	\N	EFO	1	EFO	motor neuron disease	progressive bulbar palsy
EFO:1000631	EFO:0003783	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	EFO:0003783	"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" []	207096	\N	\N	EFO	1	EFO	palsy	progressive bulbar palsy
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:0003783	"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" []	560198	\N	\N	EFO	2	EFO	neurodegenerative disease	progressive bulbar palsy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003783	"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" []	560199	\N	\N	EFO	2	EFO	nervous system disease	progressive bulbar palsy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003783	"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" []	1142071	\N	\N	EFO	3	EFO	nervous system disease	progressive bulbar palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003783	"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" []	2024950	\N	\N	EFO	4	EFO	disease	progressive bulbar palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003783	"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" []	2999561	\N	\N	EFO	5	EFO	disposition	progressive bulbar palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003783	"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" []	4132638	\N	\N	EFO	6	EFO	material property	progressive bulbar palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003783	"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" []	5180970	\N	\N	EFO	7	EFO	experimental factor	progressive bulbar palsy
EFO:0003784	\N	\N	"Coloration of the skin." []	EFO:0003784	"Coloration of the skin." []	65850	\N	\N	EFO	0	EFO	skin pigmentation	skin pigmentation
EFO:0000651	EFO:0003784	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003784	"Coloration of the skin." []	207097	\N	\N	EFO	1	EFO	phenotype	skin pigmentation
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003784	"Coloration of the skin." []	560200	\N	\N	EFO	2	EFO	quality	skin pigmentation
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003784	"Coloration of the skin." []	1142073	\N	\N	EFO	3	EFO	material property	skin pigmentation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003784	"Coloration of the skin." []	2024952	\N	\N	EFO	4	EFO	experimental factor	skin pigmentation
EFO:0003785	\N	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0003785	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	65851	\N	\N	EFO	0	EFO	allergy	allergy
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003785	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	207098	\N	\N	EFO	1	EFO	immune system disease	allergy
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003785	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	560201	\N	\N	EFO	2	EFO	disease	allergy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003785	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	1142074	\N	\N	EFO	3	EFO	disposition	allergy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003785	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	2024953	\N	\N	EFO	4	EFO	material property	allergy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003785	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	3177776	\N	\N	EFO	5	EFO	experimental factor	allergy
EFO:0003786	\N	\N	"" []	EFO:0003786	"" []	65852	\N	\N	EFO	0	EFO	cytokine	cytokine
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003786	"" []	207099	\N	\N	EFO	1	EFO	protein	cytokine
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003786	"" []	560202	\N	\N	EFO	2	EFO	chemical compound	cytokine
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003786	"" []	1142075	\N	\N	EFO	3	EFO	chemical entity	cytokine
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003786	"" []	2024954	\N	\N	EFO	4	EFO	material entity	cytokine
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003786	"" []	3177777	\N	\N	EFO	5	EFO	experimental factor	cytokine
EFO:0003787	\N	\N	"" []	EFO:0003787	"" []	65853	\N	\N	EFO	0	EFO	cytokine role	cytokine role
CHEBI:24432	EFO:0003787	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0003787	"" []	207100	\N	\N	EFO	1	EFO	biological role	cytokine role
CHEBI:51086	EFO:0003787	\N	"A role played by the molecular entity or part thereof within a chemical context." []	EFO:0003787	"" []	207101	\N	\N	EFO	1	EFO	chemical role	cytokine role
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0003787	"" []	560203	\N	\N	EFO	2	EFO	role	cytokine role
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0003787	"" []	560204	\N	\N	EFO	2	EFO	role	cytokine role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003787	"" []	1142076	\N	\N	EFO	3	EFO	material property	cytokine role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003787	"" []	2024955	\N	\N	EFO	4	EFO	experimental factor	cytokine role
EFO:0003788	\N	\N	"A gene expression protocol is a  protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing." []	EFO:0003788	"A gene expression protocol is a  protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing." []	65854	\N	\N	EFO	0	EFO	gene expression protocol	gene expression protocol
OBI:0000272	EFO:0003788	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0003788	"A gene expression protocol is a  protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing." []	207102	\N	\N	EFO	1	EFO	protocol	gene expression protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003788	"A gene expression protocol is a  protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing." []	560205	\N	\N	EFO	2	EFO	information entity	gene expression protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003788	"A gene expression protocol is a  protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing." []	1142077	\N	\N	EFO	3	EFO	experimental factor	gene expression protocol
EFO:0003789	\N	\N	"A growth protocol is a protocol which provides instructions on the growth of a biological sample. E.g. the growth of a specific cell line or Drosophila culture" []	EFO:0003789	"A growth protocol is a protocol which provides instructions on the growth of a biological sample. E.g. the growth of a specific cell line or Drosophila culture" []	65855	\N	\N	EFO	0	EFO	growth protocol	growth protocol
OBI:0000272	EFO:0003789	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0003789	"A growth protocol is a protocol which provides instructions on the growth of a biological sample. E.g. the growth of a specific cell line or Drosophila culture" []	207103	\N	\N	EFO	1	EFO	protocol	growth protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003789	"A growth protocol is a protocol which provides instructions on the growth of a biological sample. E.g. the growth of a specific cell line or Drosophila culture" []	560206	\N	\N	EFO	2	EFO	information entity	growth protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003789	"A growth protocol is a protocol which provides instructions on the growth of a biological sample. E.g. the growth of a specific cell line or Drosophila culture" []	1142078	\N	\N	EFO	3	EFO	experimental factor	growth protocol
EFO:0003790	\N	\N	"A hybridization protocol is the set of instructions or plan for performing a nucleic acid hybridization on an microarray such as those provided by Affymetrix" []	EFO:0003790	"A hybridization protocol is the set of instructions or plan for performing a nucleic acid hybridization on an microarray such as those provided by Affymetrix" []	65856	\N	\N	EFO	0	EFO	hybridization protocol	hybridization protocol
OBI:0000272	EFO:0003790	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0003790	"A hybridization protocol is the set of instructions or plan for performing a nucleic acid hybridization on an microarray such as those provided by Affymetrix" []	207104	\N	\N	EFO	1	EFO	protocol	hybridization protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003790	"A hybridization protocol is the set of instructions or plan for performing a nucleic acid hybridization on an microarray such as those provided by Affymetrix" []	560207	\N	\N	EFO	2	EFO	information entity	hybridization protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003790	"A hybridization protocol is the set of instructions or plan for performing a nucleic acid hybridization on an microarray such as those provided by Affymetrix" []	1142079	\N	\N	EFO	3	EFO	experimental factor	hybridization protocol
EFO:0003791	\N	\N	"" []	EFO:0003791	"" []	65857	\N	\N	EFO	0	EFO	interleukin (Homo sapiens)	interleukin (Homo sapiens)
EFO:0004100	EFO:0003791	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003791	"" []	207105	\N	\N	EFO	1	EFO	interleukin	interleukin (Homo sapiens)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003791	"" []	560208	\N	\N	EFO	2	EFO	cytokine	interleukin (Homo sapiens)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003791	"" []	1142080	\N	\N	EFO	3	EFO	protein	interleukin (Homo sapiens)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003791	"" []	2024956	\N	\N	EFO	4	EFO	chemical compound	interleukin (Homo sapiens)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003791	"" []	3177778	\N	\N	EFO	5	EFO	chemical entity	interleukin (Homo sapiens)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003791	"" []	4387917	\N	\N	EFO	6	EFO	material entity	interleukin (Homo sapiens)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003791	"" []	5408666	\N	\N	EFO	7	EFO	experimental factor	interleukin (Homo sapiens)
EFO:0003792	\N	\N	"" []	EFO:0003792	"" []	65858	\N	\N	EFO	0	EFO	interleukin (Mus musculus)	interleukin (Mus musculus)
EFO:0004100	EFO:0003792	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003792	"" []	207106	\N	\N	EFO	1	EFO	interleukin	interleukin (Mus musculus)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003792	"" []	560209	\N	\N	EFO	2	EFO	cytokine	interleukin (Mus musculus)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003792	"" []	1142081	\N	\N	EFO	3	EFO	protein	interleukin (Mus musculus)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003792	"" []	2024957	\N	\N	EFO	4	EFO	chemical compound	interleukin (Mus musculus)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003792	"" []	3177779	\N	\N	EFO	5	EFO	chemical entity	interleukin (Mus musculus)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003792	"" []	4387918	\N	\N	EFO	6	EFO	material entity	interleukin (Mus musculus)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003792	"" []	5408667	\N	\N	EFO	7	EFO	experimental factor	interleukin (Mus musculus)
EFO:0003793	\N	\N	"" []	EFO:0003793	"" []	65859	\N	\N	EFO	0	EFO	interleukin (Rattus norvegicus)	interleukin (Rattus norvegicus)
EFO:0004100	EFO:0003793	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003793	"" []	207107	\N	\N	EFO	1	EFO	interleukin	interleukin (Rattus norvegicus)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003793	"" []	560210	\N	\N	EFO	2	EFO	cytokine	interleukin (Rattus norvegicus)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003793	"" []	1142082	\N	\N	EFO	3	EFO	protein	interleukin (Rattus norvegicus)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003793	"" []	2024958	\N	\N	EFO	4	EFO	chemical compound	interleukin (Rattus norvegicus)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003793	"" []	3177780	\N	\N	EFO	5	EFO	chemical entity	interleukin (Rattus norvegicus)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003793	"" []	4387919	\N	\N	EFO	6	EFO	material entity	interleukin (Rattus norvegicus)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003793	"" []	5408668	\N	\N	EFO	7	EFO	experimental factor	interleukin (Rattus norvegicus)
EFO:0003794	\N	\N	"" []	EFO:0003794	"" []	65860	\N	\N	EFO	0	EFO	interleukin-1 beta (Homo sapiens)	interleukin-1 beta (Homo sapiens)
EFO:0003791	EFO:0003794	\N	"" []	EFO:0003794	"" []	207108	\N	\N	EFO	1	EFO	interleukin (Homo sapiens)	interleukin-1 beta (Homo sapiens)
EFO:0004100	EFO:0003791	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003794	"" []	560211	\N	\N	EFO	2	EFO	interleukin	interleukin-1 beta (Homo sapiens)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003794	"" []	1142083	\N	\N	EFO	3	EFO	cytokine	interleukin-1 beta (Homo sapiens)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003794	"" []	2024959	\N	\N	EFO	4	EFO	protein	interleukin-1 beta (Homo sapiens)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003794	"" []	3177781	\N	\N	EFO	5	EFO	chemical compound	interleukin-1 beta (Homo sapiens)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003794	"" []	4387920	\N	\N	EFO	6	EFO	chemical entity	interleukin-1 beta (Homo sapiens)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003794	"" []	5408669	\N	\N	EFO	7	EFO	material entity	interleukin-1 beta (Homo sapiens)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003794	"" []	6147458	\N	\N	EFO	8	EFO	experimental factor	interleukin-1 beta (Homo sapiens)
EFO:0003795	\N	\N	"" []	EFO:0003795	"" []	65861	\N	\N	EFO	0	EFO	interleukin-1 beta (Mus musculus)	interleukin-1 beta (Mus musculus)
EFO:0003792	EFO:0003795	\N	"" []	EFO:0003795	"" []	207109	\N	\N	EFO	1	EFO	interleukin (Mus musculus)	interleukin-1 beta (Mus musculus)
EFO:0004100	EFO:0003792	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003795	"" []	560212	\N	\N	EFO	2	EFO	interleukin	interleukin-1 beta (Mus musculus)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003795	"" []	1142084	\N	\N	EFO	3	EFO	cytokine	interleukin-1 beta (Mus musculus)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003795	"" []	2024960	\N	\N	EFO	4	EFO	protein	interleukin-1 beta (Mus musculus)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003795	"" []	3177782	\N	\N	EFO	5	EFO	chemical compound	interleukin-1 beta (Mus musculus)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003795	"" []	4387921	\N	\N	EFO	6	EFO	chemical entity	interleukin-1 beta (Mus musculus)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003795	"" []	5408670	\N	\N	EFO	7	EFO	material entity	interleukin-1 beta (Mus musculus)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003795	"" []	6147459	\N	\N	EFO	8	EFO	experimental factor	interleukin-1 beta (Mus musculus)
EFO:0003796	\N	\N	"" []	EFO:0003796	"" []	65862	\N	\N	EFO	0	EFO	interleukin-1 beta (Rattus norvegicus)	interleukin-1 beta (Rattus norvegicus)
EFO:0003793	EFO:0003796	\N	"" []	EFO:0003796	"" []	207110	\N	\N	EFO	1	EFO	interleukin (Rattus norvegicus)	interleukin-1 beta (Rattus norvegicus)
EFO:0004100	EFO:0003793	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003796	"" []	560213	\N	\N	EFO	2	EFO	interleukin	interleukin-1 beta (Rattus norvegicus)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003796	"" []	1142085	\N	\N	EFO	3	EFO	cytokine	interleukin-1 beta (Rattus norvegicus)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003796	"" []	2024961	\N	\N	EFO	4	EFO	protein	interleukin-1 beta (Rattus norvegicus)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003796	"" []	3177783	\N	\N	EFO	5	EFO	chemical compound	interleukin-1 beta (Rattus norvegicus)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003796	"" []	4387922	\N	\N	EFO	6	EFO	chemical entity	interleukin-1 beta (Rattus norvegicus)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003796	"" []	5408671	\N	\N	EFO	7	EFO	material entity	interleukin-1 beta (Rattus norvegicus)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003796	"" []	6147460	\N	\N	EFO	8	EFO	experimental factor	interleukin-1 beta (Rattus norvegicus)
EFO:0003797	\N	\N	"" []	EFO:0003797	"" []	65863	\N	\N	EFO	0	EFO	interleukin-13 (Homo sapiens)	interleukin-13 (Homo sapiens)
EFO:0003791	EFO:0003797	\N	"" []	EFO:0003797	"" []	207111	\N	\N	EFO	1	EFO	interleukin (Homo sapiens)	interleukin-13 (Homo sapiens)
EFO:0004100	EFO:0003791	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003797	"" []	560214	\N	\N	EFO	2	EFO	interleukin	interleukin-13 (Homo sapiens)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003797	"" []	1142086	\N	\N	EFO	3	EFO	cytokine	interleukin-13 (Homo sapiens)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003797	"" []	2024962	\N	\N	EFO	4	EFO	protein	interleukin-13 (Homo sapiens)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003797	"" []	3177784	\N	\N	EFO	5	EFO	chemical compound	interleukin-13 (Homo sapiens)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003797	"" []	4387923	\N	\N	EFO	6	EFO	chemical entity	interleukin-13 (Homo sapiens)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003797	"" []	5408672	\N	\N	EFO	7	EFO	material entity	interleukin-13 (Homo sapiens)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003797	"" []	6147461	\N	\N	EFO	8	EFO	experimental factor	interleukin-13 (Homo sapiens)
EFO:0003798	\N	\N	"" []	EFO:0003798	"" []	65864	\N	\N	EFO	0	EFO	interleukin-13 (Mus musculus)	interleukin-13 (Mus musculus)
EFO:0003792	EFO:0003798	\N	"" []	EFO:0003798	"" []	207112	\N	\N	EFO	1	EFO	interleukin (Mus musculus)	interleukin-13 (Mus musculus)
EFO:0004100	EFO:0003792	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003798	"" []	560215	\N	\N	EFO	2	EFO	interleukin	interleukin-13 (Mus musculus)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003798	"" []	1142087	\N	\N	EFO	3	EFO	cytokine	interleukin-13 (Mus musculus)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003798	"" []	2024963	\N	\N	EFO	4	EFO	protein	interleukin-13 (Mus musculus)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003798	"" []	3177785	\N	\N	EFO	5	EFO	chemical compound	interleukin-13 (Mus musculus)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003798	"" []	4387924	\N	\N	EFO	6	EFO	chemical entity	interleukin-13 (Mus musculus)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003798	"" []	5408673	\N	\N	EFO	7	EFO	material entity	interleukin-13 (Mus musculus)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003798	"" []	6147462	\N	\N	EFO	8	EFO	experimental factor	interleukin-13 (Mus musculus)
EFO:0003799	\N	\N	"" []	EFO:0003799	"" []	65865	\N	\N	EFO	0	EFO	interleukin-14 (Mus musculus)	interleukin-14 (Mus musculus)
EFO:0003792	EFO:0003799	\N	"" []	EFO:0003799	"" []	207113	\N	\N	EFO	1	EFO	interleukin (Mus musculus)	interleukin-14 (Mus musculus)
EFO:0004100	EFO:0003792	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003799	"" []	560216	\N	\N	EFO	2	EFO	interleukin	interleukin-14 (Mus musculus)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003799	"" []	1142088	\N	\N	EFO	3	EFO	cytokine	interleukin-14 (Mus musculus)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003799	"" []	2024964	\N	\N	EFO	4	EFO	protein	interleukin-14 (Mus musculus)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003799	"" []	3177786	\N	\N	EFO	5	EFO	chemical compound	interleukin-14 (Mus musculus)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003799	"" []	4387925	\N	\N	EFO	6	EFO	chemical entity	interleukin-14 (Mus musculus)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003799	"" []	5408674	\N	\N	EFO	7	EFO	material entity	interleukin-14 (Mus musculus)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003799	"" []	6147463	\N	\N	EFO	8	EFO	experimental factor	interleukin-14 (Mus musculus)
EFO:0003800	\N	\N	"" []	EFO:0003800	"" []	65866	\N	\N	EFO	0	EFO	interleukin-17 (Mus musculus)	interleukin-17 (Mus musculus)
EFO:0003792	EFO:0003800	\N	"" []	EFO:0003800	"" []	207114	\N	\N	EFO	1	EFO	interleukin (Mus musculus)	interleukin-17 (Mus musculus)
EFO:0004100	EFO:0003792	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003800	"" []	560217	\N	\N	EFO	2	EFO	interleukin	interleukin-17 (Mus musculus)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003800	"" []	1142089	\N	\N	EFO	3	EFO	cytokine	interleukin-17 (Mus musculus)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003800	"" []	2024965	\N	\N	EFO	4	EFO	protein	interleukin-17 (Mus musculus)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003800	"" []	3177787	\N	\N	EFO	5	EFO	chemical compound	interleukin-17 (Mus musculus)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003800	"" []	4387926	\N	\N	EFO	6	EFO	chemical entity	interleukin-17 (Mus musculus)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003800	"" []	5408675	\N	\N	EFO	7	EFO	material entity	interleukin-17 (Mus musculus)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003800	"" []	6147464	\N	\N	EFO	8	EFO	experimental factor	interleukin-17 (Mus musculus)
EFO:0003801	\N	\N	"" []	EFO:0003801	"" []	65867	\N	\N	EFO	0	EFO	interleukin-19 (Homo sapiens)	interleukin-19 (Homo sapiens)
EFO:0003791	EFO:0003801	\N	"" []	EFO:0003801	"" []	207115	\N	\N	EFO	1	EFO	interleukin (Homo sapiens)	interleukin-19 (Homo sapiens)
EFO:0004100	EFO:0003791	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003801	"" []	560218	\N	\N	EFO	2	EFO	interleukin	interleukin-19 (Homo sapiens)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003801	"" []	1142090	\N	\N	EFO	3	EFO	cytokine	interleukin-19 (Homo sapiens)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003801	"" []	2024966	\N	\N	EFO	4	EFO	protein	interleukin-19 (Homo sapiens)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003801	"" []	3177788	\N	\N	EFO	5	EFO	chemical compound	interleukin-19 (Homo sapiens)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003801	"" []	4387927	\N	\N	EFO	6	EFO	chemical entity	interleukin-19 (Homo sapiens)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003801	"" []	5408676	\N	\N	EFO	7	EFO	material entity	interleukin-19 (Homo sapiens)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003801	"" []	6147465	\N	\N	EFO	8	EFO	experimental factor	interleukin-19 (Homo sapiens)
EFO:0003802	\N	\N	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	EFO:0003802	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	65868	\N	\N	EFO	0	EFO	refractory anemia	refractory anemia
EFO:0000198	EFO:0003802	\N	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	EFO:0003802	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	207116	\N	\N	EFO	1	EFO	myelodysplastic syndrome	refractory anemia
EFO:0002427	EFO:0000198	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0003802	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	560219	\N	\N	EFO	2	EFO	myeloid neoplasm	refractory anemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003802	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	1142091	\N	\N	EFO	3	EFO	lymphoid neoplasm	refractory anemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003802	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	2024967	\N	\N	EFO	4	EFO	cancer	refractory anemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0003802	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	2024968	\N	\N	EFO	4	EFO	hematological system disease	refractory anemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003802	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	3177789	\N	\N	EFO	5	EFO	neoplasm	refractory anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003802	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	3177790	\N	\N	EFO	5	EFO	disease	refractory anemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003802	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	4387928	\N	\N	EFO	6	EFO	disease	refractory anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003802	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	5408677	\N	\N	EFO	7	EFO	disposition	refractory anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003802	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	5996594	\N	\N	EFO	8	EFO	material property	refractory anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003802	"A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series.  Refractory anemia is uncommon.  It is primarily a disease of older adults.  The median survival exceeds 5 years.  (WHO, 2001)" []	6550373	\N	\N	EFO	9	EFO	experimental factor	refractory anemia
EFO:0003803	\N	\N	"" []	EFO:0003803	"" []	65869	\N	\N	EFO	0	EFO	interleukin-20 (Homo sapiens)	interleukin-20 (Homo sapiens)
EFO:0003791	EFO:0003803	\N	"" []	EFO:0003803	"" []	207117	\N	\N	EFO	1	EFO	interleukin (Homo sapiens)	interleukin-20 (Homo sapiens)
EFO:0004100	EFO:0003791	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003803	"" []	560220	\N	\N	EFO	2	EFO	interleukin	interleukin-20 (Homo sapiens)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003803	"" []	1142092	\N	\N	EFO	3	EFO	cytokine	interleukin-20 (Homo sapiens)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003803	"" []	2024969	\N	\N	EFO	4	EFO	protein	interleukin-20 (Homo sapiens)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003803	"" []	3177791	\N	\N	EFO	5	EFO	chemical compound	interleukin-20 (Homo sapiens)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003803	"" []	4387930	\N	\N	EFO	6	EFO	chemical entity	interleukin-20 (Homo sapiens)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003803	"" []	5408679	\N	\N	EFO	7	EFO	material entity	interleukin-20 (Homo sapiens)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003803	"" []	6147467	\N	\N	EFO	8	EFO	experimental factor	interleukin-20 (Homo sapiens)
EFO:0003804	\N	\N	"" []	EFO:0003804	"" []	65870	\N	\N	EFO	0	EFO	interleukin-21 (Mus musculus)	interleukin-21 (Mus musculus)
EFO:0003792	EFO:0003804	\N	"" []	EFO:0003804	"" []	207118	\N	\N	EFO	1	EFO	interleukin (Mus musculus)	interleukin-21 (Mus musculus)
EFO:0004100	EFO:0003792	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003804	"" []	560221	\N	\N	EFO	2	EFO	interleukin	interleukin-21 (Mus musculus)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003804	"" []	1142093	\N	\N	EFO	3	EFO	cytokine	interleukin-21 (Mus musculus)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003804	"" []	2024970	\N	\N	EFO	4	EFO	protein	interleukin-21 (Mus musculus)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003804	"" []	3177792	\N	\N	EFO	5	EFO	chemical compound	interleukin-21 (Mus musculus)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003804	"" []	4387931	\N	\N	EFO	6	EFO	chemical entity	interleukin-21 (Mus musculus)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003804	"" []	5408680	\N	\N	EFO	7	EFO	material entity	interleukin-21 (Mus musculus)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003804	"" []	6147468	\N	\N	EFO	8	EFO	experimental factor	interleukin-21 (Mus musculus)
EFO:0003805	\N	\N	"" []	EFO:0003805	"" []	65871	\N	\N	EFO	0	EFO	interleukin-24 (Homo sapiens)	interleukin-24 (Homo sapiens)
EFO:0003791	EFO:0003805	\N	"" []	EFO:0003805	"" []	207119	\N	\N	EFO	1	EFO	interleukin (Homo sapiens)	interleukin-24 (Homo sapiens)
EFO:0004100	EFO:0003791	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003805	"" []	560222	\N	\N	EFO	2	EFO	interleukin	interleukin-24 (Homo sapiens)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003805	"" []	1142094	\N	\N	EFO	3	EFO	cytokine	interleukin-24 (Homo sapiens)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003805	"" []	2024971	\N	\N	EFO	4	EFO	protein	interleukin-24 (Homo sapiens)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003805	"" []	3177793	\N	\N	EFO	5	EFO	chemical compound	interleukin-24 (Homo sapiens)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003805	"" []	4387932	\N	\N	EFO	6	EFO	chemical entity	interleukin-24 (Homo sapiens)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003805	"" []	5408681	\N	\N	EFO	7	EFO	material entity	interleukin-24 (Homo sapiens)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003805	"" []	6147469	\N	\N	EFO	8	EFO	experimental factor	interleukin-24 (Homo sapiens)
EFO:0003806	\N	\N	"" []	EFO:0003806	"" []	65872	\N	\N	EFO	0	EFO	interleukin-26 (Homo sapiens)	interleukin-26 (Homo sapiens)
EFO:0003791	EFO:0003806	\N	"" []	EFO:0003806	"" []	207120	\N	\N	EFO	1	EFO	interleukin (Homo sapiens)	interleukin-26 (Homo sapiens)
EFO:0004100	EFO:0003791	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003806	"" []	560223	\N	\N	EFO	2	EFO	interleukin	interleukin-26 (Homo sapiens)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003806	"" []	1142095	\N	\N	EFO	3	EFO	cytokine	interleukin-26 (Homo sapiens)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003806	"" []	2024972	\N	\N	EFO	4	EFO	protein	interleukin-26 (Homo sapiens)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003806	"" []	3177794	\N	\N	EFO	5	EFO	chemical compound	interleukin-26 (Homo sapiens)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003806	"" []	4387933	\N	\N	EFO	6	EFO	chemical entity	interleukin-26 (Homo sapiens)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003806	"" []	5408682	\N	\N	EFO	7	EFO	material entity	interleukin-26 (Homo sapiens)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003806	"" []	6147470	\N	\N	EFO	8	EFO	experimental factor	interleukin-26 (Homo sapiens)
EFO:0003807	\N	\N	"" []	EFO:0003807	"" []	65873	\N	\N	EFO	0	EFO	interleukin-33 (Rattus norvegicus)	interleukin-33 (Rattus norvegicus)
EFO:0003793	EFO:0003807	\N	"" []	EFO:0003807	"" []	207121	\N	\N	EFO	1	EFO	interleukin (Rattus norvegicus)	interleukin-33 (Rattus norvegicus)
EFO:0004100	EFO:0003793	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003807	"" []	560224	\N	\N	EFO	2	EFO	interleukin	interleukin-33 (Rattus norvegicus)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003807	"" []	1142096	\N	\N	EFO	3	EFO	cytokine	interleukin-33 (Rattus norvegicus)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003807	"" []	2024973	\N	\N	EFO	4	EFO	protein	interleukin-33 (Rattus norvegicus)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003807	"" []	3177795	\N	\N	EFO	5	EFO	chemical compound	interleukin-33 (Rattus norvegicus)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003807	"" []	4387934	\N	\N	EFO	6	EFO	chemical entity	interleukin-33 (Rattus norvegicus)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003807	"" []	5408683	\N	\N	EFO	7	EFO	material entity	interleukin-33 (Rattus norvegicus)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003807	"" []	6147471	\N	\N	EFO	8	EFO	experimental factor	interleukin-33 (Rattus norvegicus)
EFO:0003808	\N	\N	"A labelling protocol is a set of instructions or plan which is realised" []	EFO:0003808	"A labelling protocol is a set of instructions or plan which is realised" []	65874	\N	\N	EFO	0	EFO	labelling protocol	labelling protocol
OBI:0000272	EFO:0003808	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0003808	"A labelling protocol is a set of instructions or plan which is realised" []	207122	\N	\N	EFO	1	EFO	protocol	labelling protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003808	"A labelling protocol is a set of instructions or plan which is realised" []	560225	\N	\N	EFO	2	EFO	information entity	labelling protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003808	"A labelling protocol is a set of instructions or plan which is realised" []	1142097	\N	\N	EFO	3	EFO	experimental factor	labelling protocol
EFO:0003809	\N	\N	"A sample treatment protocol is a protocol used in a biological experiment and defines instructions on how a sample should be treated in a given experimental scenario." []	EFO:0003809	"A sample treatment protocol is a protocol used in a biological experiment and defines instructions on how a sample should be treated in a given experimental scenario." []	65875	\N	\N	EFO	0	EFO	sample treatment protocol	sample treatment protocol
EFO:0003969	EFO:0003809	\N	"A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome." []	EFO:0003809	"A sample treatment protocol is a protocol used in a biological experiment and defines instructions on how a sample should be treated in a given experimental scenario." []	207123	\N	\N	EFO	1	EFO	treatment protocol	sample treatment protocol
OBI:0000272	EFO:0003969	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0003809	"A sample treatment protocol is a protocol used in a biological experiment and defines instructions on how a sample should be treated in a given experimental scenario." []	560226	\N	\N	EFO	2	EFO	protocol	sample treatment protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003809	"A sample treatment protocol is a protocol used in a biological experiment and defines instructions on how a sample should be treated in a given experimental scenario." []	1142098	\N	\N	EFO	3	EFO	information entity	sample treatment protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003809	"A sample treatment protocol is a protocol used in a biological experiment and defines instructions on how a sample should be treated in a given experimental scenario." []	2024974	\N	\N	EFO	4	EFO	experimental factor	sample treatment protocol
EFO:0003810	\N	\N	"" []	EFO:0003810	"" []	65876	\N	\N	EFO	0	EFO	interleukin-22 (Homo sapiens)	interleukin-22 (Homo sapiens)
EFO:0003791	EFO:0003810	\N	"" []	EFO:0003810	"" []	207124	\N	\N	EFO	1	EFO	interleukin (Homo sapiens)	interleukin-22 (Homo sapiens)
EFO:0004100	EFO:0003791	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0003810	"" []	560227	\N	\N	EFO	2	EFO	interleukin	interleukin-22 (Homo sapiens)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0003810	"" []	1142099	\N	\N	EFO	3	EFO	cytokine	interleukin-22 (Homo sapiens)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003810	"" []	2024975	\N	\N	EFO	4	EFO	protein	interleukin-22 (Homo sapiens)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003810	"" []	3177796	\N	\N	EFO	5	EFO	chemical compound	interleukin-22 (Homo sapiens)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003810	"" []	4387935	\N	\N	EFO	6	EFO	chemical entity	interleukin-22 (Homo sapiens)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003810	"" []	5408684	\N	\N	EFO	7	EFO	material entity	interleukin-22 (Homo sapiens)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003810	"" []	6147472	\N	\N	EFO	8	EFO	experimental factor	interleukin-22 (Homo sapiens)
EFO:0003811	\N	\N	"Refractory anemia with excess blasts I and II." []	EFO:0003811	"Refractory anemia with excess blasts I and II." []	65877	\N	\N	EFO	0	EFO	refractory anemia with excess blasts	refractory anemia with excess blasts
EFO:0000198	EFO:0003811	\N	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	EFO:0003811	"Refractory anemia with excess blasts I and II." []	207125	\N	\N	EFO	1	EFO	myelodysplastic syndrome	refractory anemia with excess blasts
EFO:0002427	EFO:0000198	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0003811	"Refractory anemia with excess blasts I and II." []	560228	\N	\N	EFO	2	EFO	myeloid neoplasm	refractory anemia with excess blasts
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003811	"Refractory anemia with excess blasts I and II." []	1142100	\N	\N	EFO	3	EFO	lymphoid neoplasm	refractory anemia with excess blasts
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003811	"Refractory anemia with excess blasts I and II." []	2024976	\N	\N	EFO	4	EFO	cancer	refractory anemia with excess blasts
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0003811	"Refractory anemia with excess blasts I and II." []	2024977	\N	\N	EFO	4	EFO	hematological system disease	refractory anemia with excess blasts
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003811	"Refractory anemia with excess blasts I and II." []	3177797	\N	\N	EFO	5	EFO	neoplasm	refractory anemia with excess blasts
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003811	"Refractory anemia with excess blasts I and II." []	3177798	\N	\N	EFO	5	EFO	disease	refractory anemia with excess blasts
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003811	"Refractory anemia with excess blasts I and II." []	4387936	\N	\N	EFO	6	EFO	disease	refractory anemia with excess blasts
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003811	"Refractory anemia with excess blasts I and II." []	5408685	\N	\N	EFO	7	EFO	disposition	refractory anemia with excess blasts
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003811	"Refractory anemia with excess blasts I and II." []	5996595	\N	\N	EFO	8	EFO	material property	refractory anemia with excess blasts
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003811	"Refractory anemia with excess blasts I and II." []	6550374	\N	\N	EFO	9	EFO	experimental factor	refractory anemia with excess blasts
EFO:0003812	\N	\N	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	EFO:0003812	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	65878	\N	\N	EFO	0	EFO	refractory anemia with ringed sideroblasts	refractory anemia with ringed sideroblasts
EFO:0000198	EFO:0003812	\N	"Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells." []	EFO:0003812	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	207126	\N	\N	EFO	1	EFO	myelodysplastic syndrome	refractory anemia with ringed sideroblasts
EFO:0002427	EFO:0000198	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:0003812	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	560229	\N	\N	EFO	2	EFO	myeloid neoplasm	refractory anemia with ringed sideroblasts
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0003812	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	1142101	\N	\N	EFO	3	EFO	lymphoid neoplasm	refractory anemia with ringed sideroblasts
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003812	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	2024978	\N	\N	EFO	4	EFO	cancer	refractory anemia with ringed sideroblasts
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0003812	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	2024979	\N	\N	EFO	4	EFO	hematological system disease	refractory anemia with ringed sideroblasts
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003812	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	3177799	\N	\N	EFO	5	EFO	neoplasm	refractory anemia with ringed sideroblasts
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003812	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	3177800	\N	\N	EFO	5	EFO	disease	refractory anemia with ringed sideroblasts
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003812	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	4387938	\N	\N	EFO	6	EFO	disease	refractory anemia with ringed sideroblasts
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003812	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	5408687	\N	\N	EFO	7	EFO	disposition	refractory anemia with ringed sideroblasts
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003812	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	5996596	\N	\N	EFO	8	EFO	material property	refractory anemia with ringed sideroblasts
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003812	"A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.  The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain.  It occurs primarily in older individuals.  The median survival exceeds 5 years.  (WHO, 2001)" []	6550375	\N	\N	EFO	9	EFO	experimental factor	refractory anemia with ringed sideroblasts
EFO:0003813	\N	\N	"A protocol description in which input nucleic acid material is labeled." []	EFO:0003813	"A protocol description in which input nucleic acid material is labeled." []	65879	\N	\N	EFO	0	EFO	nucleic acid labeling protocol	nucleic acid labeling protocol
EFO:0003788	EFO:0003813	\N	"A gene expression protocol is a  protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing." []	EFO:0003813	"A protocol description in which input nucleic acid material is labeled." []	207127	\N	\N	EFO	1	EFO	gene expression protocol	nucleic acid labeling protocol
EFO:0003808	EFO:0003813	\N	"A labelling protocol is a set of instructions or plan which is realised" []	EFO:0003813	"A protocol description in which input nucleic acid material is labeled." []	207128	\N	\N	EFO	1	EFO	labelling protocol	nucleic acid labeling protocol
OBI:0000272	EFO:0003788	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0003813	"A protocol description in which input nucleic acid material is labeled." []	560230	\N	\N	EFO	2	EFO	protocol	nucleic acid labeling protocol
OBI:0000272	EFO:0003808	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0003813	"A protocol description in which input nucleic acid material is labeled." []	560231	\N	\N	EFO	2	EFO	protocol	nucleic acid labeling protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003813	"A protocol description in which input nucleic acid material is labeled." []	1142102	\N	\N	EFO	3	EFO	information entity	nucleic acid labeling protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003813	"A protocol description in which input nucleic acid material is labeled." []	2024980	\N	\N	EFO	4	EFO	experimental factor	nucleic acid labeling protocol
EFO:0003814	\N	\N	"A protocol describing an image acquisition process that generates an image and features extracted in numerical form from an array." []	EFO:0003814	"A protocol describing an image acquisition process that generates an image and features extracted in numerical form from an array." []	65880	\N	\N	EFO	0	EFO	array scanning and feature extraction protocol	array scanning and feature extraction protocol
EFO:0003788	EFO:0003814	\N	"A gene expression protocol is a  protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing." []	EFO:0003814	"A protocol describing an image acquisition process that generates an image and features extracted in numerical form from an array." []	207129	\N	\N	EFO	1	EFO	gene expression protocol	array scanning and feature extraction protocol
OBI:0000272	EFO:0003788	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0003814	"A protocol describing an image acquisition process that generates an image and features extracted in numerical form from an array." []	560232	\N	\N	EFO	2	EFO	protocol	array scanning and feature extraction protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003814	"A protocol describing an image acquisition process that generates an image and features extracted in numerical form from an array." []	1142103	\N	\N	EFO	3	EFO	information entity	array scanning and feature extraction protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003814	"A protocol describing an image acquisition process that generates an image and features extracted in numerical form from an array." []	2024981	\N	\N	EFO	4	EFO	experimental factor	array scanning and feature extraction protocol
EFO:0003815	\N	\N	"A protocol describing the hybridisation of the target nucleic acid sample to a fixed probe on the array." []	EFO:0003815	"A protocol describing the hybridisation of the target nucleic acid sample to a fixed probe on the array." []	65881	\N	\N	EFO	0	EFO	nucleic acid hybridization to array protocol	nucleic acid hybridization to array protocol
EFO:0003788	EFO:0003815	\N	"A gene expression protocol is a  protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing." []	EFO:0003815	"A protocol describing the hybridisation of the target nucleic acid sample to a fixed probe on the array." []	207130	\N	\N	EFO	1	EFO	gene expression protocol	nucleic acid hybridization to array protocol
EFO:0003790	EFO:0003815	\N	"A hybridization protocol is the set of instructions or plan for performing a nucleic acid hybridization on an microarray such as those provided by Affymetrix" []	EFO:0003815	"A protocol describing the hybridisation of the target nucleic acid sample to a fixed probe on the array." []	207131	\N	\N	EFO	1	EFO	hybridization protocol	nucleic acid hybridization to array protocol
OBI:0000272	EFO:0003788	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0003815	"A protocol describing the hybridisation of the target nucleic acid sample to a fixed probe on the array." []	560233	\N	\N	EFO	2	EFO	protocol	nucleic acid hybridization to array protocol
OBI:0000272	EFO:0003790	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0003815	"A protocol describing the hybridisation of the target nucleic acid sample to a fixed probe on the array." []	560234	\N	\N	EFO	2	EFO	protocol	nucleic acid hybridization to array protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003815	"A protocol describing the hybridisation of the target nucleic acid sample to a fixed probe on the array." []	1142104	\N	\N	EFO	3	EFO	information entity	nucleic acid hybridization to array protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003815	"A protocol describing the hybridisation of the target nucleic acid sample to a fixed probe on the array." []	2024982	\N	\N	EFO	4	EFO	experimental factor	nucleic acid hybridization to array protocol
EFO:0003816	\N	\N	"A protocol describing a data transformation in which data transformation has the objective normalization." []	EFO:0003816	"A protocol describing a data transformation in which data transformation has the objective normalization." []	65882	\N	\N	EFO	0	EFO	normalization data transformation protocol	normalization data transformation protocol
EFO:0003788	EFO:0003816	\N	"A gene expression protocol is a  protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing." []	EFO:0003816	"A protocol describing a data transformation in which data transformation has the objective normalization." []	207132	\N	\N	EFO	1	EFO	gene expression protocol	normalization data transformation protocol
OBI:0000272	EFO:0003788	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0003816	"A protocol describing a data transformation in which data transformation has the objective normalization." []	560235	\N	\N	EFO	2	EFO	protocol	normalization data transformation protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003816	"A protocol describing a data transformation in which data transformation has the objective normalization." []	1142105	\N	\N	EFO	3	EFO	information entity	normalization data transformation protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003816	"A protocol describing a data transformation in which data transformation has the objective normalization." []	2024983	\N	\N	EFO	4	EFO	experimental factor	normalization data transformation protocol
EFO:0003817	\N	\N	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	EFO:0003817	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	65883	\N	\N	EFO	0	EFO	laryngeal neoplasm	laryngeal neoplasm
EFO:0003853	EFO:0003817	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0003817	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	207133	\N	\N	EFO	1	EFO	respiratory system neoplasm	laryngeal neoplasm
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003817	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	560236	\N	\N	EFO	2	EFO	neoplasm	laryngeal neoplasm
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0003817	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	560237	\N	\N	EFO	2	EFO	respiratory system disease	laryngeal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003817	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	1142106	\N	\N	EFO	3	EFO	disease	laryngeal neoplasm
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003817	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	1142107	\N	\N	EFO	3	EFO	disease	laryngeal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003817	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	2024984	\N	\N	EFO	4	EFO	disposition	laryngeal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003817	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	3177801	\N	\N	EFO	5	EFO	material property	laryngeal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003817	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	4387940	\N	\N	EFO	6	EFO	experimental factor	laryngeal neoplasm
EFO:0003818	\N	\N	"Pathological processes involving any part of the LUNG." []	EFO:0003818	"Pathological processes involving any part of the LUNG." []	65884	\N	\N	EFO	0	EFO	lung disease	lung disease
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0003818	"Pathological processes involving any part of the LUNG." []	207134	\N	\N	EFO	1	EFO	respiratory system disease	lung disease
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003818	"Pathological processes involving any part of the LUNG." []	560238	\N	\N	EFO	2	EFO	disease	lung disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003818	"Pathological processes involving any part of the LUNG." []	1142108	\N	\N	EFO	3	EFO	disposition	lung disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003818	"Pathological processes involving any part of the LUNG." []	2024985	\N	\N	EFO	4	EFO	material property	lung disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003818	"Pathological processes involving any part of the LUNG." []	3177802	\N	\N	EFO	5	EFO	experimental factor	lung disease
EFO:0003819	\N	\N	"Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification." []	EFO:0003819	"Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification." []	65885	\N	\N	EFO	0	EFO	dental caries	dental caries
EFO:0000524	EFO:0003819	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0003819	"Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification." []	207135	\N	\N	EFO	1	EFO	head disease	dental caries
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003819	"Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification." []	560239	\N	\N	EFO	2	EFO	disease	dental caries
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003819	"Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification." []	1142109	\N	\N	EFO	3	EFO	disposition	dental caries
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003819	"Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification." []	2024986	\N	\N	EFO	4	EFO	material property	dental caries
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003819	"Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification." []	3177803	\N	\N	EFO	5	EFO	experimental factor	dental caries
EFO:0003820	\N	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:0003820	"Tumors or cancer located in bone tissue or specific BONES." []	65886	\N	\N	EFO	0	EFO	bone neoplasm	bone neoplasm
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003820	"Tumors or cancer located in bone tissue or specific BONES." []	207136	\N	\N	EFO	1	EFO	neoplasm	bone neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003820	"Tumors or cancer located in bone tissue or specific BONES." []	560240	\N	\N	EFO	2	EFO	disease	bone neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003820	"Tumors or cancer located in bone tissue or specific BONES." []	1142110	\N	\N	EFO	3	EFO	disposition	bone neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003820	"Tumors or cancer located in bone tissue or specific BONES." []	2024987	\N	\N	EFO	4	EFO	material property	bone neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003820	"Tumors or cancer located in bone tissue or specific BONES." []	3177804	\N	\N	EFO	5	EFO	experimental factor	bone neoplasm
EFO:0003821	\N	\N	"A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" []	EFO:0003821	"A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" []	65887	\N	\N	EFO	0	EFO	migraine disorder	migraine disorder
EFO:0005774	EFO:0003821	\N	"A disease affecting the brain or part of the brain." []	EFO:0003821	"A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" []	207137	\N	\N	EFO	1	EFO	brain disease	migraine disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003821	"A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" []	560241	\N	\N	EFO	2	EFO	nervous system disease	migraine disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003821	"A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" []	1142111	\N	\N	EFO	3	EFO	disease	migraine disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003821	"A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" []	2024988	\N	\N	EFO	4	EFO	disposition	migraine disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003821	"A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" []	3177805	\N	\N	EFO	5	EFO	material property	migraine disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003821	"A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" []	4387941	\N	\N	EFO	6	EFO	experimental factor	migraine disorder
EFO:0003822	\N	\N	"The presence of an increased amount of blood in a part or organ; engorgement." []	EFO:0003822	"The presence of an increased amount of blood in a part or organ; engorgement." []	65888	\N	\N	EFO	0	EFO	hyperemia	hyperemia
EFO:0003765	EFO:0003822	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0003822	"The presence of an increased amount of blood in a part or organ; engorgement." []	207138	\N	\N	EFO	1	EFO	sign or symptom	hyperemia
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003822	"The presence of an increased amount of blood in a part or organ; engorgement." []	560242	\N	\N	EFO	2	EFO	phenotype	hyperemia
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003822	"The presence of an increased amount of blood in a part or organ; engorgement." []	1142112	\N	\N	EFO	3	EFO	quality	hyperemia
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003822	"The presence of an increased amount of blood in a part or organ; engorgement." []	2024989	\N	\N	EFO	4	EFO	material property	hyperemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003822	"The presence of an increased amount of blood in a part or organ; engorgement." []	3177806	\N	\N	EFO	5	EFO	experimental factor	hyperemia
EFO:0003824	\N	\N	"Tumors or cancer of the EYE." []	EFO:0003824	"Tumors or cancer of the EYE." []	65889	\N	\N	EFO	0	EFO	eye neoplasm	eye neoplasm
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003824	"Tumors or cancer of the EYE." []	207139	\N	\N	EFO	1	EFO	neoplasm	eye neoplasm
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0003824	"Tumors or cancer of the EYE." []	207140	\N	\N	EFO	1	EFO	eye disease	eye neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003824	"Tumors or cancer of the EYE." []	560243	\N	\N	EFO	2	EFO	disease	eye neoplasm
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003824	"Tumors or cancer of the EYE." []	560244	\N	\N	EFO	2	EFO	disease	eye neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003824	"Tumors or cancer of the EYE." []	1142113	\N	\N	EFO	3	EFO	disposition	eye neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003824	"Tumors or cancer of the EYE." []	2024990	\N	\N	EFO	4	EFO	material property	eye neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003824	"Tumors or cancer of the EYE." []	3177807	\N	\N	EFO	5	EFO	experimental factor	eye neoplasm
EFO:0003825	\N	\N	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	EFO:0003825	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	65890	\N	\N	EFO	0	EFO	serous adenocarcinoma	serous adenocarcinoma
EFO:0000228	EFO:0003825	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0003825	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	207141	\N	\N	EFO	1	EFO	adenocarcinoma	serous adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0003825	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	560245	\N	\N	EFO	2	EFO	carcinoma	serous adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003825	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	1142114	\N	\N	EFO	3	EFO	cancer	serous adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0003825	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	1142115	\N	\N	EFO	3	EFO	epithelial neoplasm	serous adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003825	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	2024991	\N	\N	EFO	4	EFO	neoplasm	serous adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003825	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	2024992	\N	\N	EFO	4	EFO	neoplasm	serous adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003825	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	3177808	\N	\N	EFO	5	EFO	disease	serous adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003825	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	4387942	\N	\N	EFO	6	EFO	disposition	serous adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003825	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	5408689	\N	\N	EFO	7	EFO	material property	serous adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003825	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	6147475	\N	\N	EFO	8	EFO	experimental factor	serous adenocarcinoma
EFO:0003826	\N	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:0003826	"Tumors or cancer of the SALIVARY GLANDS." []	65891	\N	\N	EFO	0	EFO	salivary gland neoplasm	salivary gland neoplasm
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003826	"Tumors or cancer of the SALIVARY GLANDS." []	207142	\N	\N	EFO	1	EFO	digestive system disease	salivary gland neoplasm
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0003826	"Tumors or cancer of the SALIVARY GLANDS." []	207143	\N	\N	EFO	1	EFO	head and neck neoplasia	salivary gland neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003826	"Tumors or cancer of the SALIVARY GLANDS." []	560246	\N	\N	EFO	2	EFO	disease	salivary gland neoplasm
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0003826	"Tumors or cancer of the SALIVARY GLANDS." []	560247	\N	\N	EFO	2	EFO	head disease	salivary gland neoplasm
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003826	"Tumors or cancer of the SALIVARY GLANDS." []	560248	\N	\N	EFO	2	EFO	neoplasm	salivary gland neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003826	"Tumors or cancer of the SALIVARY GLANDS." []	2024994	\N	\N	EFO	4	EFO	disposition	salivary gland neoplasm
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003826	"Tumors or cancer of the SALIVARY GLANDS." []	1142117	\N	\N	EFO	3	EFO	disease	salivary gland neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003826	"Tumors or cancer of the SALIVARY GLANDS." []	1142118	\N	\N	EFO	3	EFO	disease	salivary gland neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003826	"Tumors or cancer of the SALIVARY GLANDS." []	2999562	\N	\N	EFO	5	EFO	material property	salivary gland neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003826	"Tumors or cancer of the SALIVARY GLANDS." []	4132639	\N	\N	EFO	6	EFO	experimental factor	salivary gland neoplasm
EFO:0003827	\N	\N	"Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS." []	EFO:0003827	"Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS." []	65892	\N	\N	EFO	0	EFO	pulmonary embolism	pulmonary embolism
EFO:0004264	EFO:0003827	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0003827	"Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS." []	207144	\N	\N	EFO	1	EFO	vascular disease	pulmonary embolism
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003827	"Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS." []	560249	\N	\N	EFO	2	EFO	cardiovascular disease	pulmonary embolism
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003827	"Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS." []	1142119	\N	\N	EFO	3	EFO	disease	pulmonary embolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003827	"Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS." []	2024995	\N	\N	EFO	4	EFO	disposition	pulmonary embolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003827	"Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS." []	3177810	\N	\N	EFO	5	EFO	material property	pulmonary embolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003827	"Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS." []	4387943	\N	\N	EFO	6	EFO	experimental factor	pulmonary embolism
EFO:0003828	\N	\N	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	EFO:0003828	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	65893	\N	\N	EFO	0	EFO	spinal cord neoplasm	spinal cord neoplasm
EFO:0000616	EFO:0003828	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003828	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	207145	\N	\N	EFO	1	EFO	neoplasm	spinal cord neoplasm
EFO:0000618	EFO:0003828	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003828	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	207146	\N	\N	EFO	1	EFO	nervous system disease	spinal cord neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003828	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	560250	\N	\N	EFO	2	EFO	disease	spinal cord neoplasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003828	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	560251	\N	\N	EFO	2	EFO	disease	spinal cord neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003828	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	1142120	\N	\N	EFO	3	EFO	disposition	spinal cord neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003828	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	2024996	\N	\N	EFO	4	EFO	material property	spinal cord neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003828	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	3177811	\N	\N	EFO	5	EFO	experimental factor	spinal cord neoplasm
EFO:0003829	\N	\N	"Disorders related to or resulting from abuse or mis-use of alcohol." []	EFO:0003829	"Disorders related to or resulting from abuse or mis-use of alcohol." []	65894	\N	\N	EFO	0	EFO	alcohol dependence	alcohol dependence
EFO:0003890	EFO:0003829	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0003829	"Disorders related to or resulting from abuse or mis-use of alcohol." []	207147	\N	\N	EFO	1	EFO	drug dependence	alcohol dependence
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0003829	"Disorders related to or resulting from abuse or mis-use of alcohol." []	560252	\N	\N	EFO	2	EFO	mental or behavioural disorder	alcohol dependence
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0003829	"Disorders related to or resulting from abuse or mis-use of alcohol." []	1142121	\N	\N	EFO	3	EFO	brain disease	alcohol dependence
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003829	"Disorders related to or resulting from abuse or mis-use of alcohol." []	2024997	\N	\N	EFO	4	EFO	nervous system disease	alcohol dependence
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003829	"Disorders related to or resulting from abuse or mis-use of alcohol." []	3177812	\N	\N	EFO	5	EFO	disease	alcohol dependence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003829	"Disorders related to or resulting from abuse or mis-use of alcohol." []	4387944	\N	\N	EFO	6	EFO	disposition	alcohol dependence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003829	"Disorders related to or resulting from abuse or mis-use of alcohol." []	5408690	\N	\N	EFO	7	EFO	material property	alcohol dependence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003829	"Disorders related to or resulting from abuse or mis-use of alcohol." []	6147476	\N	\N	EFO	8	EFO	experimental factor	alcohol dependence
EFO:0003830	\N	\N	"Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." []	EFO:0003830	"Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." []	65895	\N	\N	EFO	0	EFO	prostatitis	prostatitis
EFO:0000512	EFO:0003830	\N	"any diease of the reproductive system" []	EFO:0003830	"Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." []	207148	\N	\N	EFO	1	EFO	reproductive system disease	prostatitis
EFO:0000771	EFO:0003830	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0003830	"Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." []	207149	\N	\N	EFO	1	EFO	bacterial disease	prostatitis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003830	"Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." []	560253	\N	\N	EFO	2	EFO	disease	prostatitis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0003830	"Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." []	560254	\N	\N	EFO	2	EFO	infectious disease	prostatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003830	"Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." []	2024999	\N	\N	EFO	4	EFO	disposition	prostatitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003830	"Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." []	1142123	\N	\N	EFO	3	EFO	disease	prostatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003830	"Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." []	2999563	\N	\N	EFO	5	EFO	material property	prostatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003830	"Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." []	4132640	\N	\N	EFO	6	EFO	experimental factor	prostatitis
EFO:0003832	\N	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:0003832	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	65896	\N	\N	EFO	0	EFO	gallbladder disease	gallbladder disease
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003832	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	207150	\N	\N	EFO	1	EFO	digestive system disease	gallbladder disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003832	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	560255	\N	\N	EFO	2	EFO	disease	gallbladder disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003832	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	1142124	\N	\N	EFO	3	EFO	disposition	gallbladder disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003832	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	2025000	\N	\N	EFO	4	EFO	material property	gallbladder disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003832	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	3177814	\N	\N	EFO	5	EFO	experimental factor	gallbladder disease
EFO:0003833	\N	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0003833	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	65897	\N	\N	EFO	0	EFO	brain neoplasm	brain neoplasm
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003833	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	207151	\N	\N	EFO	1	EFO	neoplasm	brain neoplasm
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0003833	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	207152	\N	\N	EFO	1	EFO	brain disease	brain neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003833	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	560256	\N	\N	EFO	2	EFO	disease	brain neoplasm
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003833	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	560257	\N	\N	EFO	2	EFO	nervous system disease	brain neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003833	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	2025002	\N	\N	EFO	4	EFO	disposition	brain neoplasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003833	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	1142126	\N	\N	EFO	3	EFO	disease	brain neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003833	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	2999564	\N	\N	EFO	5	EFO	material property	brain neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003833	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	4132641	\N	\N	EFO	6	EFO	experimental factor	brain neoplasm
EFO:0003834	\N	\N	"A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)." []	EFO:0003834	"A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)." []	65898	\N	\N	EFO	0	EFO	cutaneous lupus erythematosus	cutaneous lupus erythematosus
EFO:0000701	EFO:0003834	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0003834	"A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)." []	207153	\N	\N	EFO	1	EFO	skin disease	cutaneous lupus erythematosus
EFO:0005140	EFO:0003834	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0003834	"A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)." []	207154	\N	\N	EFO	1	EFO	autoimmune disease	cutaneous lupus erythematosus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003834	"A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)." []	560258	\N	\N	EFO	2	EFO	disease	cutaneous lupus erythematosus
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003834	"A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)." []	560259	\N	\N	EFO	2	EFO	immune system disease	cutaneous lupus erythematosus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003834	"A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)." []	2025004	\N	\N	EFO	4	EFO	disposition	cutaneous lupus erythematosus
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003834	"A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)." []	1142128	\N	\N	EFO	3	EFO	disease	cutaneous lupus erythematosus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003834	"A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)." []	2999565	\N	\N	EFO	5	EFO	material property	cutaneous lupus erythematosus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003834	"A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)." []	4132642	\N	\N	EFO	6	EFO	experimental factor	cutaneous lupus erythematosus
EFO:0003835	\N	\N	"Tumors or cancer of the ANAL CANAL." []	EFO:0003835	"Tumors or cancer of the ANAL CANAL." []	65899	\N	\N	EFO	0	EFO	anal neoplasm	anal neoplasm
EFO:0000616	EFO:0003835	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003835	"Tumors or cancer of the ANAL CANAL." []	207155	\N	\N	EFO	1	EFO	neoplasm	anal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003835	"Tumors or cancer of the ANAL CANAL." []	560260	\N	\N	EFO	2	EFO	disease	anal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003835	"Tumors or cancer of the ANAL CANAL." []	1142129	\N	\N	EFO	3	EFO	disposition	anal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003835	"Tumors or cancer of the ANAL CANAL." []	2025005	\N	\N	EFO	4	EFO	material property	anal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003835	"Tumors or cancer of the ANAL CANAL." []	3177817	\N	\N	EFO	5	EFO	experimental factor	anal neoplasm
EFO:0003836	\N	\N	"Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes." []	EFO:0003836	"Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes." []	65900	\N	\N	EFO	0	EFO	lipoprotein	lipoprotein
CHEBI:36080	EFO:0003836	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003836	"Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes." []	207156	\N	\N	EFO	1	EFO	protein	lipoprotein
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003836	"Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes." []	560261	\N	\N	EFO	2	EFO	chemical compound	lipoprotein
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003836	"Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes." []	1142130	\N	\N	EFO	3	EFO	chemical entity	lipoprotein
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003836	"Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes." []	2025006	\N	\N	EFO	4	EFO	material entity	lipoprotein
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003836	"Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes." []	3177818	\N	\N	EFO	5	EFO	experimental factor	lipoprotein
EFO:0003837	\N	\N	"Process by which organic tissue becomes hardened by the physiologic deposit of calcium salts." []	EFO:0003837	"Process by which organic tissue becomes hardened by the physiologic deposit of calcium salts." []	65901	\N	\N	EFO	0	EFO	calcification	calcification
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	EFO:0003837	"Process by which organic tissue becomes hardened by the physiologic deposit of calcium salts." []	194593	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	calcification
EFO:0003839	\N	\N	"Any disease or disorder of the retina." []	EFO:0003839	"Any disease or disorder of the retina." []	65902	\N	\N	EFO	0	EFO	retinopathy	retinopathy
EFO:0000524	EFO:0003839	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0003839	"Any disease or disorder of the retina." []	207157	\N	\N	EFO	1	EFO	head disease	retinopathy
EFO:0003966	EFO:0003839	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0003839	"Any disease or disorder of the retina." []	207158	\N	\N	EFO	1	EFO	eye disease	retinopathy
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003839	"Any disease or disorder of the retina." []	560262	\N	\N	EFO	2	EFO	disease	retinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003839	"Any disease or disorder of the retina." []	560263	\N	\N	EFO	2	EFO	disease	retinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003839	"Any disease or disorder of the retina." []	1142131	\N	\N	EFO	3	EFO	disposition	retinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003839	"Any disease or disorder of the retina." []	2025007	\N	\N	EFO	4	EFO	material property	retinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003839	"Any disease or disorder of the retina." []	3177819	\N	\N	EFO	5	EFO	experimental factor	retinopathy
EFO:0003840	\N	\N	"A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	EFO:0003840	"A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	65903	\N	\N	EFO	0	EFO	chronic progressive multiple sclerosis	chronic progressive multiple sclerosis
EFO:0003885	EFO:0003840	\N	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	EFO:0003840	"A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	207159	\N	\N	EFO	1	EFO	multiple sclerosis	chronic progressive multiple sclerosis
EFO:0005140	EFO:0003885	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0003840	"A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	560264	\N	\N	EFO	2	EFO	autoimmune disease	chronic progressive multiple sclerosis
EFO:0005774	EFO:0003885	\N	"A disease affecting the brain or part of the brain." []	EFO:0003840	"A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	560265	\N	\N	EFO	2	EFO	brain disease	chronic progressive multiple sclerosis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003840	"A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	1142132	\N	\N	EFO	3	EFO	immune system disease	chronic progressive multiple sclerosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003840	"A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	1142133	\N	\N	EFO	3	EFO	nervous system disease	chronic progressive multiple sclerosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003840	"A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	2025008	\N	\N	EFO	4	EFO	disease	chronic progressive multiple sclerosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003840	"A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	2025009	\N	\N	EFO	4	EFO	disease	chronic progressive multiple sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003840	"A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	3177820	\N	\N	EFO	5	EFO	disposition	chronic progressive multiple sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003840	"A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	4387945	\N	\N	EFO	6	EFO	material property	chronic progressive multiple sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003840	"A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	5408691	\N	\N	EFO	7	EFO	experimental factor	chronic progressive multiple sclerosis
EFO:0003841	\N	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:0003841	"A benign or malignant neoplasm affecting the thyroid gland." []	65904	\N	\N	EFO	0	EFO	thyroid neoplasm	thyroid neoplasm
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0003841	"A benign or malignant neoplasm affecting the thyroid gland." []	207160	\N	\N	EFO	1	EFO	endocrine neoplasm	thyroid neoplasm
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:0003841	"A benign or malignant neoplasm affecting the thyroid gland." []	207161	\N	\N	EFO	1	EFO	thyroid disease	thyroid neoplasm
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003841	"A benign or malignant neoplasm affecting the thyroid gland." []	560266	\N	\N	EFO	2	EFO	neoplasm	thyroid neoplasm
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0003841	"A benign or malignant neoplasm affecting the thyroid gland." []	560267	\N	\N	EFO	2	EFO	endocrine system disease	thyroid neoplasm
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0003841	"A benign or malignant neoplasm affecting the thyroid gland." []	560268	\N	\N	EFO	2	EFO	endocrine system disease	thyroid neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003841	"A benign or malignant neoplasm affecting the thyroid gland." []	1142134	\N	\N	EFO	3	EFO	disease	thyroid neoplasm
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003841	"A benign or malignant neoplasm affecting the thyroid gland." []	1142135	\N	\N	EFO	3	EFO	disease	thyroid neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003841	"A benign or malignant neoplasm affecting the thyroid gland." []	2025010	\N	\N	EFO	4	EFO	disposition	thyroid neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003841	"A benign or malignant neoplasm affecting the thyroid gland." []	3177821	\N	\N	EFO	5	EFO	material property	thyroid neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003841	"A benign or malignant neoplasm affecting the thyroid gland." []	4387946	\N	\N	EFO	6	EFO	experimental factor	thyroid neoplasm
EFO:0003843	\N	\N	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	EFO:0003843	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	65905	\N	\N	EFO	0	EFO	pain	pain
EFO:0003765	EFO:0003843	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0003843	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	207162	\N	\N	EFO	1	EFO	sign or symptom	pain
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003843	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	560269	\N	\N	EFO	2	EFO	phenotype	pain
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003843	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	1142136	\N	\N	EFO	3	EFO	quality	pain
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003843	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	2025011	\N	\N	EFO	4	EFO	material property	pain
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003843	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	3177822	\N	\N	EFO	5	EFO	experimental factor	pain
EFO:0003844	\N	\N	"Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." []	EFO:0003844	"Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." []	65906	\N	\N	EFO	0	EFO	ureteral neoplasm	ureteral neoplasm
EFO:0003863	EFO:0003844	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0003844	"Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." []	207163	\N	\N	EFO	1	EFO	urogenital neoplasm	ureteral neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003844	"Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." []	560270	\N	\N	EFO	2	EFO	neoplasm	ureteral neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003844	"Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." []	1142137	\N	\N	EFO	3	EFO	disease	ureteral neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003844	"Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." []	2025012	\N	\N	EFO	4	EFO	disposition	ureteral neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003844	"Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." []	3177823	\N	\N	EFO	5	EFO	material property	ureteral neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003844	"Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." []	4387947	\N	\N	EFO	6	EFO	experimental factor	ureteral neoplasm
EFO:0003845	\N	\N	"Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE." []	EFO:0003845	"Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE." []	65907	\N	\N	EFO	0	EFO	kidney stone	kidney stone
EFO:0003086	EFO:0003845	\N	"A disease affecting the kidneys" []	EFO:0003845	"Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE." []	207164	\N	\N	EFO	1	EFO	kidney disease	kidney stone
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003845	"Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE." []	560271	\N	\N	EFO	2	EFO	disease	kidney stone
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003845	"Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE." []	1142138	\N	\N	EFO	3	EFO	disposition	kidney stone
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003845	"Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE." []	2025013	\N	\N	EFO	4	EFO	material property	kidney stone
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003845	"Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE." []	3177824	\N	\N	EFO	5	EFO	experimental factor	kidney stone
EFO:0003846	\N	\N	"Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males." []	EFO:0003846	"Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males." []	65908	\N	\N	EFO	0	EFO	urethral neoplasm	urethral neoplasm
EFO:0000616	EFO:0003846	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003846	"Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males." []	207165	\N	\N	EFO	1	EFO	neoplasm	urethral neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003846	"Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males." []	560272	\N	\N	EFO	2	EFO	disease	urethral neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003846	"Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males." []	1142139	\N	\N	EFO	3	EFO	disposition	urethral neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003846	"Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males." []	2025014	\N	\N	EFO	4	EFO	material property	urethral neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003846	"Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males." []	3177825	\N	\N	EFO	5	EFO	experimental factor	urethral neoplasm
EFO:0003847	\N	\N	"Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)" []	EFO:0003847	"Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)" []	65909	\N	\N	EFO	0	EFO	mental retardation	mental retardation
HP:0000707	\N	\N	"An abnormality of the nervous system." [HPO:probinson]	EFO:0003847	"Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)" []	194594	\N	\N	EFO	0	EFO	Abnormality of the nervous system	mental retardation
EFO:0003849	\N	\N	"Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA." []	EFO:0003849	"Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA." []	65910	\N	\N	EFO	0	EFO	palatal neoplasm	palatal neoplasm
EFO:0000616	EFO:0003849	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003849	"Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA." []	207166	\N	\N	EFO	1	EFO	neoplasm	palatal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003849	"Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA." []	560273	\N	\N	EFO	2	EFO	disease	palatal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003849	"Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA." []	1142140	\N	\N	EFO	3	EFO	disposition	palatal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003849	"Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA." []	2025015	\N	\N	EFO	4	EFO	material property	palatal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003849	"Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA." []	3177826	\N	\N	EFO	5	EFO	experimental factor	palatal neoplasm
EFO:0003850	\N	\N	"Tumors or cancer of the ADRENAL GLANDS." []	EFO:0003850	"Tumors or cancer of the ADRENAL GLANDS." []	65911	\N	\N	EFO	0	EFO	adrenal gland neoplasm	adrenal gland neoplasm
EFO:0000616	EFO:0003850	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003850	"Tumors or cancer of the ADRENAL GLANDS." []	207167	\N	\N	EFO	1	EFO	neoplasm	adrenal gland neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003850	"Tumors or cancer of the ADRENAL GLANDS." []	560274	\N	\N	EFO	2	EFO	disease	adrenal gland neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003850	"Tumors or cancer of the ADRENAL GLANDS." []	1142141	\N	\N	EFO	3	EFO	disposition	adrenal gland neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003850	"Tumors or cancer of the ADRENAL GLANDS." []	2025016	\N	\N	EFO	4	EFO	material property	adrenal gland neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003850	"Tumors or cancer of the ADRENAL GLANDS." []	3177827	\N	\N	EFO	5	EFO	experimental factor	adrenal gland neoplasm
EFO:0003851	\N	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:0003851	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	65912	\N	\N	EFO	0	EFO	meningeal neoplasm	meningeal neoplasm
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0003851	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	207168	\N	\N	EFO	1	EFO	brain neoplasm	meningeal neoplasm
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003851	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	560275	\N	\N	EFO	2	EFO	neoplasm	meningeal neoplasm
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0003851	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	560276	\N	\N	EFO	2	EFO	brain disease	meningeal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003851	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	1142142	\N	\N	EFO	3	EFO	disease	meningeal neoplasm
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003851	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	1142143	\N	\N	EFO	3	EFO	nervous system disease	meningeal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003851	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	3177829	\N	\N	EFO	5	EFO	disposition	meningeal neoplasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003851	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	2025018	\N	\N	EFO	4	EFO	disease	meningeal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003851	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	4132643	\N	\N	EFO	6	EFO	material property	meningeal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003851	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	5180971	\N	\N	EFO	7	EFO	experimental factor	meningeal neoplasm
EFO:0003852	\N	\N	"Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" []	EFO:0003852	"Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" []	65913	\N	\N	EFO	0	EFO	developmental disability	developmental disability
EFO:0000618	EFO:0003852	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003852	"Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" []	207169	\N	\N	EFO	1	EFO	nervous system disease	developmental disability
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003852	"Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" []	560277	\N	\N	EFO	2	EFO	disease	developmental disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003852	"Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" []	1142144	\N	\N	EFO	3	EFO	disposition	developmental disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003852	"Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" []	2025019	\N	\N	EFO	4	EFO	material property	developmental disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003852	"Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" []	3177830	\N	\N	EFO	5	EFO	experimental factor	developmental disability
EFO:0003853	\N	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0003853	"A tumor (abnormal growth of tissue) of the respiratory system." []	65914	\N	\N	EFO	0	EFO	respiratory system neoplasm	respiratory system neoplasm
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003853	"A tumor (abnormal growth of tissue) of the respiratory system." []	207170	\N	\N	EFO	1	EFO	neoplasm	respiratory system neoplasm
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0003853	"A tumor (abnormal growth of tissue) of the respiratory system." []	207171	\N	\N	EFO	1	EFO	respiratory system disease	respiratory system neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003853	"A tumor (abnormal growth of tissue) of the respiratory system." []	560278	\N	\N	EFO	2	EFO	disease	respiratory system neoplasm
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003853	"A tumor (abnormal growth of tissue) of the respiratory system." []	560279	\N	\N	EFO	2	EFO	disease	respiratory system neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003853	"A tumor (abnormal growth of tissue) of the respiratory system." []	1142145	\N	\N	EFO	3	EFO	disposition	respiratory system neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003853	"A tumor (abnormal growth of tissue) of the respiratory system." []	2025020	\N	\N	EFO	4	EFO	material property	respiratory system neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003853	"A tumor (abnormal growth of tissue) of the respiratory system." []	3177831	\N	\N	EFO	5	EFO	experimental factor	respiratory system neoplasm
EFO:0003854	\N	\N	"Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." []	EFO:0003854	"Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." []	65915	\N	\N	EFO	0	EFO	postmenopausal osteoporosis	postmenopausal osteoporosis
EFO:0003882	EFO:0003854	\N	"Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis." []	EFO:0003854	"Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." []	207172	\N	\N	EFO	1	EFO	osteoporosis	postmenopausal osteoporosis
EFO:0004260	EFO:0003882	\N	"Diseases of BONES." []	EFO:0003854	"Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." []	560280	\N	\N	EFO	2	EFO	bone disease	postmenopausal osteoporosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0003854	"Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." []	1142146	\N	\N	EFO	3	EFO	skeletal system disease	postmenopausal osteoporosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003854	"Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." []	2025021	\N	\N	EFO	4	EFO	disease	postmenopausal osteoporosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003854	"Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." []	3177832	\N	\N	EFO	5	EFO	disposition	postmenopausal osteoporosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003854	"Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." []	4387949	\N	\N	EFO	6	EFO	material property	postmenopausal osteoporosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003854	"Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." []	5408692	\N	\N	EFO	7	EFO	experimental factor	postmenopausal osteoporosis
EFO:0003855	\N	\N	"Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." []	EFO:0003855	"Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." []	65916	\N	\N	EFO	0	EFO	intestinal polyp	intestinal polyp
EFO:0000405	EFO:0003855	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003855	"Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." []	207173	\N	\N	EFO	1	EFO	digestive system disease	intestinal polyp
EFO:0000662	EFO:0003855	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:0003855	"Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." []	207174	\N	\N	EFO	1	EFO	polyp	intestinal polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003855	"Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." []	560281	\N	\N	EFO	2	EFO	disease	intestinal polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003855	"Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." []	560282	\N	\N	EFO	2	EFO	neoplasm	intestinal polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003855	"Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." []	2025023	\N	\N	EFO	4	EFO	disposition	intestinal polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003855	"Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." []	1142148	\N	\N	EFO	3	EFO	disease	intestinal polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003855	"Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." []	2999566	\N	\N	EFO	5	EFO	material property	intestinal polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003855	"Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." []	4132644	\N	\N	EFO	6	EFO	experimental factor	intestinal polyp
EFO:0003856	\N	\N	"The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures." []	EFO:0003856	"The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures." []	65917	\N	\N	EFO	0	EFO	dissection	dissection
EFO:0002571	EFO:0003856	\N	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	EFO:0003856	"The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures." []	207175	\N	\N	EFO	1	EFO	medical procedure	dissection
EFO:0002694	EFO:0002571	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003856	"The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures." []	560283	\N	\N	EFO	2	EFO	experimental process	dissection
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003856	"The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures." []	1142149	\N	\N	EFO	3	EFO	planned process	dissection
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003856	"The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures." []	2025024	\N	\N	EFO	4	EFO	process	dissection
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003856	"The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures." []	3177834	\N	\N	EFO	5	EFO	experimental factor	dissection
EFO:0003857	\N	\N	"Persistent flexure or contracture of a joint. (Dorland, 27th ed)" []	EFO:0003857	"Persistent flexure or contracture of a joint. (Dorland, 27th ed)" []	65918	\N	\N	EFO	0	EFO	arthrogryposis	arthrogryposis
EFO:0004280	EFO:0003857	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	EFO:0003857	"Persistent flexure or contracture of a joint. (Dorland, 27th ed)" []	207176	\N	\N	EFO	1	EFO	movement disorder	arthrogryposis
EFO:0005755	EFO:0003857	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0003857	"Persistent flexure or contracture of a joint. (Dorland, 27th ed)" []	207177	\N	\N	EFO	1	EFO	rheumatic disease	arthrogryposis
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003857	"Persistent flexure or contracture of a joint. (Dorland, 27th ed)" []	560284	\N	\N	EFO	2	EFO	nervous system disease	arthrogryposis
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0003857	"Persistent flexure or contracture of a joint. (Dorland, 27th ed)" []	560285	\N	\N	EFO	2	EFO	skeletal system disease	arthrogryposis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003857	"Persistent flexure or contracture of a joint. (Dorland, 27th ed)" []	1142150	\N	\N	EFO	3	EFO	disease	arthrogryposis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003857	"Persistent flexure or contracture of a joint. (Dorland, 27th ed)" []	1142151	\N	\N	EFO	3	EFO	disease	arthrogryposis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003857	"Persistent flexure or contracture of a joint. (Dorland, 27th ed)" []	2025025	\N	\N	EFO	4	EFO	disposition	arthrogryposis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003857	"Persistent flexure or contracture of a joint. (Dorland, 27th ed)" []	3177835	\N	\N	EFO	5	EFO	material property	arthrogryposis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003857	"Persistent flexure or contracture of a joint. (Dorland, 27th ed)" []	4387950	\N	\N	EFO	6	EFO	experimental factor	arthrogryposis
EFO:0003858	\N	\N	"" []	EFO:0003858	"" []	65919	\N	\N	EFO	0	EFO	skeleton structure	skeleton structure
EFO:0000787	EFO:0003858	\N	"" []	EFO:0003858	"" []	207178	\N	\N	EFO	1	EFO	animal component	skeleton structure
EFO:0000786	EFO:0000787	\N	"" []	EFO:0003858	"" []	560286	\N	\N	EFO	2	EFO	anatomy basic component	skeleton structure
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0003858	"" []	1142152	\N	\N	EFO	3	EFO	organism part	skeleton structure
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003858	"" []	2025026	\N	\N	EFO	4	EFO	material entity	skeleton structure
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003858	"" []	3177836	\N	\N	EFO	5	EFO	experimental factor	skeleton structure
EFO:0003859	\N	\N	"Tumors or cancer of the UTERUS." []	EFO:0003859	"Tumors or cancer of the UTERUS." []	65920	\N	\N	EFO	0	EFO	uterine neoplasm	uterine neoplasm
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:0003859	"Tumors or cancer of the UTERUS." []	207179	\N	\N	EFO	1	EFO	reproductive system disease	uterine neoplasm
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0003859	"Tumors or cancer of the UTERUS." []	207180	\N	\N	EFO	1	EFO	urogenital neoplasm	uterine neoplasm
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003859	"Tumors or cancer of the UTERUS." []	560287	\N	\N	EFO	2	EFO	disease	uterine neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003859	"Tumors or cancer of the UTERUS." []	560288	\N	\N	EFO	2	EFO	neoplasm	uterine neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003859	"Tumors or cancer of the UTERUS." []	2025028	\N	\N	EFO	4	EFO	disposition	uterine neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003859	"Tumors or cancer of the UTERUS." []	1142154	\N	\N	EFO	3	EFO	disease	uterine neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003859	"Tumors or cancer of the UTERUS." []	2999567	\N	\N	EFO	5	EFO	material property	uterine neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003859	"Tumors or cancer of the UTERUS." []	4132645	\N	\N	EFO	6	EFO	experimental factor	uterine neoplasm
EFO:0003860	\N	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:0003860	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	65921	\N	\N	EFO	0	EFO	pancreatic neoplasm	pancreatic neoplasm
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0003860	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	207181	\N	\N	EFO	1	EFO	endocrine neoplasm	pancreatic neoplasm
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003860	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	560289	\N	\N	EFO	2	EFO	neoplasm	pancreatic neoplasm
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0003860	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	560290	\N	\N	EFO	2	EFO	endocrine system disease	pancreatic neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003860	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	1142155	\N	\N	EFO	3	EFO	disease	pancreatic neoplasm
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003860	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	1142156	\N	\N	EFO	3	EFO	disease	pancreatic neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003860	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	2025029	\N	\N	EFO	4	EFO	disposition	pancreatic neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003860	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	3177838	\N	\N	EFO	5	EFO	material property	pancreatic neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003860	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	4387951	\N	\N	EFO	6	EFO	experimental factor	pancreatic neoplasm
EFO:0003861	\N	\N	"" []	EFO:0003861	"" []	65922	\N	\N	EFO	0	EFO	pancreactic component	pancreactic component
EFO:0000787	EFO:0003861	\N	"" []	EFO:0003861	"" []	207182	\N	\N	EFO	1	EFO	animal component	pancreactic component
EFO:0000786	EFO:0000787	\N	"" []	EFO:0003861	"" []	560291	\N	\N	EFO	2	EFO	anatomy basic component	pancreactic component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0003861	"" []	1142157	\N	\N	EFO	3	EFO	organism part	pancreactic component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003861	"" []	2025030	\N	\N	EFO	4	EFO	material entity	pancreactic component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003861	"" []	3177839	\N	\N	EFO	5	EFO	experimental factor	pancreactic component
EFO:0003863	\N	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0003863	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	65923	\N	\N	EFO	0	EFO	urogenital neoplasm	urogenital neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003863	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	207183	\N	\N	EFO	1	EFO	neoplasm	urogenital neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003863	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	560292	\N	\N	EFO	2	EFO	disease	urogenital neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003863	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	1142158	\N	\N	EFO	3	EFO	disposition	urogenital neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003863	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	2025031	\N	\N	EFO	4	EFO	material property	urogenital neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003863	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	3177840	\N	\N	EFO	5	EFO	experimental factor	urogenital neoplasm
EFO:0003865	\N	\N	"Tumors or cancers of the KIDNEY." []	EFO:0003865	"Tumors or cancers of the KIDNEY." []	65924	\N	\N	EFO	0	EFO	kidney neoplasm	kidney neoplasm
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0003865	"Tumors or cancers of the KIDNEY." []	207184	\N	\N	EFO	1	EFO	kidney disease	kidney neoplasm
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0003865	"Tumors or cancers of the KIDNEY." []	207185	\N	\N	EFO	1	EFO	urogenital neoplasm	kidney neoplasm
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003865	"Tumors or cancers of the KIDNEY." []	560293	\N	\N	EFO	2	EFO	disease	kidney neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003865	"Tumors or cancers of the KIDNEY." []	560294	\N	\N	EFO	2	EFO	neoplasm	kidney neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003865	"Tumors or cancers of the KIDNEY." []	2025033	\N	\N	EFO	4	EFO	disposition	kidney neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003865	"Tumors or cancers of the KIDNEY." []	1142160	\N	\N	EFO	3	EFO	disease	kidney neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003865	"Tumors or cancers of the KIDNEY." []	2999568	\N	\N	EFO	5	EFO	material property	kidney neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003865	"Tumors or cancers of the KIDNEY." []	4132646	\N	\N	EFO	6	EFO	experimental factor	kidney neoplasm
EFO:0003866	\N	\N	"Tumors or cancer of the PARANASAL SINUSES." []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	65925	\N	\N	EFO	0	EFO	paranasal sinus neoplasm	paranasal sinus neoplasm
EFO:0003853	EFO:0003866	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	207186	\N	\N	EFO	1	EFO	respiratory system neoplasm	paranasal sinus neoplasm
EFO:0005950	EFO:0003866	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	207187	\N	\N	EFO	1	EFO	head and neck neoplasia	paranasal sinus neoplasm
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	560295	\N	\N	EFO	2	EFO	neoplasm	paranasal sinus neoplasm
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	560296	\N	\N	EFO	2	EFO	respiratory system disease	paranasal sinus neoplasm
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	560297	\N	\N	EFO	2	EFO	head disease	paranasal sinus neoplasm
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	560298	\N	\N	EFO	2	EFO	neoplasm	paranasal sinus neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	1142161	\N	\N	EFO	3	EFO	disease	paranasal sinus neoplasm
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	1142162	\N	\N	EFO	3	EFO	disease	paranasal sinus neoplasm
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	1142163	\N	\N	EFO	3	EFO	disease	paranasal sinus neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	2025034	\N	\N	EFO	4	EFO	disposition	paranasal sinus neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	3177842	\N	\N	EFO	5	EFO	material property	paranasal sinus neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003866	"Tumors or cancer of the PARANASAL SINUSES." []	4387952	\N	\N	EFO	6	EFO	experimental factor	paranasal sinus neoplasm
EFO:0003867	\N	\N	"Necrosis or disintegration of skeletal muscle often followed by myoglobinuria." []	EFO:0003867	"Necrosis or disintegration of skeletal muscle often followed by myoglobinuria." []	65926	\N	\N	EFO	0	EFO	rhabdomyolysis	rhabdomyolysis
EFO:0002970	EFO:0003867	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:0003867	"Necrosis or disintegration of skeletal muscle often followed by myoglobinuria." []	207188	\N	\N	EFO	1	EFO	muscular disease	rhabdomyolysis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:0003867	"Necrosis or disintegration of skeletal muscle often followed by myoglobinuria." []	560299	\N	\N	EFO	2	EFO	skeletal system disease	rhabdomyolysis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003867	"Necrosis or disintegration of skeletal muscle often followed by myoglobinuria." []	1142164	\N	\N	EFO	3	EFO	disease	rhabdomyolysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003867	"Necrosis or disintegration of skeletal muscle often followed by myoglobinuria." []	2025035	\N	\N	EFO	4	EFO	disposition	rhabdomyolysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003867	"Necrosis or disintegration of skeletal muscle often followed by myoglobinuria." []	3177843	\N	\N	EFO	5	EFO	material property	rhabdomyolysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003867	"Necrosis or disintegration of skeletal muscle often followed by myoglobinuria." []	4387953	\N	\N	EFO	6	EFO	experimental factor	rhabdomyolysis
EFO:0003868	\N	\N	"Tumors or cancer of the MOUTH." []	EFO:0003868	"Tumors or cancer of the MOUTH." []	65927	\N	\N	EFO	0	EFO	mouth neoplasm	mouth neoplasm
EFO:0005950	EFO:0003868	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0003868	"Tumors or cancer of the MOUTH." []	207189	\N	\N	EFO	1	EFO	head and neck neoplasia	mouth neoplasm
EFO:1001047	EFO:0003868	\N	"Any disease of the oral cavity" []	EFO:0003868	"Tumors or cancer of the MOUTH." []	207190	\N	\N	EFO	1	EFO	mouth disease	mouth neoplasm
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0003868	"Tumors or cancer of the MOUTH." []	560300	\N	\N	EFO	2	EFO	head disease	mouth neoplasm
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003868	"Tumors or cancer of the MOUTH." []	560301	\N	\N	EFO	2	EFO	neoplasm	mouth neoplasm
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003868	"Tumors or cancer of the MOUTH." []	560302	\N	\N	EFO	2	EFO	digestive system disease	mouth neoplasm
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0003868	"Tumors or cancer of the MOUTH." []	560303	\N	\N	EFO	2	EFO	head disease	mouth neoplasm
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003868	"Tumors or cancer of the MOUTH." []	1142165	\N	\N	EFO	3	EFO	disease	mouth neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003868	"Tumors or cancer of the MOUTH." []	1142166	\N	\N	EFO	3	EFO	disease	mouth neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003868	"Tumors or cancer of the MOUTH." []	1142167	\N	\N	EFO	3	EFO	disease	mouth neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003868	"Tumors or cancer of the MOUTH." []	2025036	\N	\N	EFO	4	EFO	disposition	mouth neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003868	"Tumors or cancer of the MOUTH." []	3177844	\N	\N	EFO	5	EFO	material property	mouth neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003868	"Tumors or cancer of the MOUTH." []	4387954	\N	\N	EFO	6	EFO	experimental factor	mouth neoplasm
EFO:0003869	\N	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:0003869	"Abnormal growth located in the breast or mammory gland." []	65928	\N	\N	EFO	0	EFO	breast neoplasm	breast neoplasm
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003869	"Abnormal growth located in the breast or mammory gland." []	207191	\N	\N	EFO	1	EFO	neoplasm	breast neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003869	"Abnormal growth located in the breast or mammory gland." []	560304	\N	\N	EFO	2	EFO	disease	breast neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003869	"Abnormal growth located in the breast or mammory gland." []	1142168	\N	\N	EFO	3	EFO	disposition	breast neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003869	"Abnormal growth located in the breast or mammory gland." []	2025037	\N	\N	EFO	4	EFO	material property	breast neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003869	"Abnormal growth located in the breast or mammory gland." []	3177845	\N	\N	EFO	5	EFO	experimental factor	breast neoplasm
EFO:0003870	\N	\N	"Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation." []	EFO:0003870	"Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation." []	65929	\N	\N	EFO	0	EFO	brain aneurysm	brain aneurysm
EFO:0003763	EFO:0003870	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0003870	"Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation." []	207192	\N	\N	EFO	1	EFO	cerebrovascular disorder	brain aneurysm
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0003870	"Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation." []	560305	\N	\N	EFO	2	EFO	vascular disease	brain aneurysm
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003870	"Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation." []	1142169	\N	\N	EFO	3	EFO	cardiovascular disease	brain aneurysm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003870	"Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation." []	2025038	\N	\N	EFO	4	EFO	disease	brain aneurysm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003870	"Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation." []	3177846	\N	\N	EFO	5	EFO	disposition	brain aneurysm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003870	"Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation." []	4387955	\N	\N	EFO	6	EFO	material property	brain aneurysm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003870	"Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation." []	5408693	\N	\N	EFO	7	EFO	experimental factor	brain aneurysm
EFO:0003871	\N	\N	"Tumors or cancer of the TONGUE." []	EFO:0003871	"Tumors or cancer of the TONGUE." []	65930	\N	\N	EFO	0	EFO	tongue neoplasm	tongue neoplasm
EFO:0005950	EFO:0003871	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0003871	"Tumors or cancer of the TONGUE." []	207193	\N	\N	EFO	1	EFO	head and neck neoplasia	tongue neoplasm
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0003871	"Tumors or cancer of the TONGUE." []	560306	\N	\N	EFO	2	EFO	head disease	tongue neoplasm
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003871	"Tumors or cancer of the TONGUE." []	560307	\N	\N	EFO	2	EFO	neoplasm	tongue neoplasm
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003871	"Tumors or cancer of the TONGUE." []	1142170	\N	\N	EFO	3	EFO	disease	tongue neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003871	"Tumors or cancer of the TONGUE." []	1142171	\N	\N	EFO	3	EFO	disease	tongue neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003871	"Tumors or cancer of the TONGUE." []	2025039	\N	\N	EFO	4	EFO	disposition	tongue neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003871	"Tumors or cancer of the TONGUE." []	3177847	\N	\N	EFO	5	EFO	material property	tongue neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003871	"Tumors or cancer of the TONGUE." []	4387956	\N	\N	EFO	6	EFO	experimental factor	tongue neoplasm
EFO:0003872	\N	\N	"Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." []	EFO:0003872	"Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." []	65931	\N	\N	EFO	0	EFO	colitis	colitis
EFO:0000405	EFO:0003872	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003872	"Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." []	207194	\N	\N	EFO	1	EFO	digestive system disease	colitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003872	"Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." []	560308	\N	\N	EFO	2	EFO	disease	colitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003872	"Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." []	1142172	\N	\N	EFO	3	EFO	disposition	colitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003872	"Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." []	2025040	\N	\N	EFO	4	EFO	material property	colitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003872	"Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." []	3177848	\N	\N	EFO	5	EFO	experimental factor	colitis
EFO:0003873	\N	\N	"" []	EFO:0003873	"" []	65932	\N	\N	EFO	0	EFO	parotid neoplasm	parotid neoplasm
EFO:0000405	EFO:0003873	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003873	"" []	207195	\N	\N	EFO	1	EFO	digestive system disease	parotid neoplasm
EFO:0005950	EFO:0003873	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0003873	"" []	207196	\N	\N	EFO	1	EFO	head and neck neoplasia	parotid neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003873	"" []	560309	\N	\N	EFO	2	EFO	disease	parotid neoplasm
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0003873	"" []	560310	\N	\N	EFO	2	EFO	head disease	parotid neoplasm
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003873	"" []	560311	\N	\N	EFO	2	EFO	neoplasm	parotid neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003873	"" []	2025042	\N	\N	EFO	4	EFO	disposition	parotid neoplasm
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003873	"" []	1142174	\N	\N	EFO	3	EFO	disease	parotid neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003873	"" []	1142175	\N	\N	EFO	3	EFO	disease	parotid neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003873	"" []	2999569	\N	\N	EFO	5	EFO	material property	parotid neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003873	"" []	4132647	\N	\N	EFO	6	EFO	experimental factor	parotid neoplasm
EFO:0003874	\N	\N	"A condition in which one or more of the arches of the foot have flattened out." []	EFO:0003874	"A condition in which one or more of the arches of the foot have flattened out." []	65933	\N	\N	EFO	0	EFO	flatfoot	flatfoot
EFO:0002461	EFO:0003874	\N	"Any disease which affects part of the skeletal system." []	EFO:0003874	"A condition in which one or more of the arches of the foot have flattened out." []	207197	\N	\N	EFO	1	EFO	skeletal system disease	flatfoot
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003874	"A condition in which one or more of the arches of the foot have flattened out." []	560312	\N	\N	EFO	2	EFO	disease	flatfoot
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003874	"A condition in which one or more of the arches of the foot have flattened out." []	1142176	\N	\N	EFO	3	EFO	disposition	flatfoot
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003874	"A condition in which one or more of the arches of the foot have flattened out." []	2025043	\N	\N	EFO	4	EFO	material property	flatfoot
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003874	"A condition in which one or more of the arches of the foot have flattened out." []	3177850	\N	\N	EFO	5	EFO	experimental factor	flatfoot
EFO:0003875	\N	\N	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	EFO:0003875	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	65934	\N	\N	EFO	0	EFO	peripheral vascular disease	peripheral vascular disease
EFO:0004264	EFO:0003875	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0003875	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	207198	\N	\N	EFO	1	EFO	vascular disease	peripheral vascular disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003875	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	560313	\N	\N	EFO	2	EFO	cardiovascular disease	peripheral vascular disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003875	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	1142177	\N	\N	EFO	3	EFO	disease	peripheral vascular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003875	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	2025044	\N	\N	EFO	4	EFO	disposition	peripheral vascular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003875	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	3177851	\N	\N	EFO	5	EFO	material property	peripheral vascular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003875	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	4387957	\N	\N	EFO	6	EFO	experimental factor	peripheral vascular disease
EFO:0003876	\N	\N	"A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE." []	EFO:0003876	"A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE." []	65935	\N	\N	EFO	0	EFO	intermittent vascular claudication	intermittent vascular claudication
EFO:0003875	EFO:0003876	\N	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	EFO:0003876	"A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE." []	207199	\N	\N	EFO	1	EFO	peripheral vascular disease	intermittent vascular claudication
EFO:0004264	EFO:0003875	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0003876	"A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE." []	560314	\N	\N	EFO	2	EFO	vascular disease	intermittent vascular claudication
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003876	"A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE." []	1142178	\N	\N	EFO	3	EFO	cardiovascular disease	intermittent vascular claudication
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003876	"A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE." []	2025045	\N	\N	EFO	4	EFO	disease	intermittent vascular claudication
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003876	"A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE." []	3177852	\N	\N	EFO	5	EFO	disposition	intermittent vascular claudication
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003876	"A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE." []	4387958	\N	\N	EFO	6	EFO	material property	intermittent vascular claudication
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003876	"A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE." []	5408694	\N	\N	EFO	7	EFO	experimental factor	intermittent vascular claudication
EFO:0003877	\N	\N	"Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types." []	EFO:0003877	"Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types." []	65936	\N	\N	EFO	0	EFO	sleep apnea	sleep apnea
EFO:0000684	EFO:0003877	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0003877	"Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types." []	207200	\N	\N	EFO	1	EFO	respiratory system disease	sleep apnea
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003877	"Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types." []	560315	\N	\N	EFO	2	EFO	disease	sleep apnea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003877	"Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types." []	1142179	\N	\N	EFO	3	EFO	disposition	sleep apnea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003877	"Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types." []	2025046	\N	\N	EFO	4	EFO	material property	sleep apnea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003877	"Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types." []	3177853	\N	\N	EFO	5	EFO	experimental factor	sleep apnea
EFO:0003878	\N	\N	"Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." []	EFO:0003878	"Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." []	65937	\N	\N	EFO	0	EFO	urethritis	urethritis
EFO:0000771	EFO:0003878	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0003878	"Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." []	207201	\N	\N	EFO	1	EFO	bacterial disease	urethritis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0003878	"Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." []	560316	\N	\N	EFO	2	EFO	infectious disease	urethritis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003878	"Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." []	1142180	\N	\N	EFO	3	EFO	disease	urethritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003878	"Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." []	2025047	\N	\N	EFO	4	EFO	disposition	urethritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003878	"Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." []	3177854	\N	\N	EFO	5	EFO	material property	urethritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003878	"Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." []	4387959	\N	\N	EFO	6	EFO	experimental factor	urethritis
EFO:0003880	\N	\N	"Tumors or cancer of the APPENDIX." []	EFO:0003880	"Tumors or cancer of the APPENDIX." []	65938	\N	\N	EFO	0	EFO	appendiceal neoplasm	appendiceal neoplasm
EFO:0004288	EFO:0003880	\N	"Tumors or cancer of the COLON." []	EFO:0003880	"Tumors or cancer of the APPENDIX." []	207202	\N	\N	EFO	1	EFO	colonic neoplasm	appendiceal neoplasm
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003880	"Tumors or cancer of the APPENDIX." []	560317	\N	\N	EFO	2	EFO	digestive system disease	appendiceal neoplasm
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003880	"Tumors or cancer of the APPENDIX." []	560318	\N	\N	EFO	2	EFO	neoplasm	appendiceal neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003880	"Tumors or cancer of the APPENDIX." []	1142181	\N	\N	EFO	3	EFO	disease	appendiceal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003880	"Tumors or cancer of the APPENDIX." []	1142182	\N	\N	EFO	3	EFO	disease	appendiceal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003880	"Tumors or cancer of the APPENDIX." []	2025048	\N	\N	EFO	4	EFO	disposition	appendiceal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003880	"Tumors or cancer of the APPENDIX." []	3177855	\N	\N	EFO	5	EFO	material property	appendiceal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003880	"Tumors or cancer of the APPENDIX." []	4387960	\N	\N	EFO	6	EFO	experimental factor	appendiceal neoplasm
EFO:0003881	\N	\N	"Excision of the uterus." []	EFO:0003881	"Excision of the uterus." []	65939	\N	\N	EFO	0	EFO	hysterectomy	hysterectomy
EFO:0002571	EFO:0003881	\N	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	EFO:0003881	"Excision of the uterus." []	207203	\N	\N	EFO	1	EFO	medical procedure	hysterectomy
EFO:0002694	EFO:0002571	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003881	"Excision of the uterus." []	560319	\N	\N	EFO	2	EFO	experimental process	hysterectomy
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003881	"Excision of the uterus." []	1142183	\N	\N	EFO	3	EFO	planned process	hysterectomy
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003881	"Excision of the uterus." []	2025049	\N	\N	EFO	4	EFO	process	hysterectomy
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003881	"Excision of the uterus." []	3177856	\N	\N	EFO	5	EFO	experimental factor	hysterectomy
EFO:0003882	\N	\N	"Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis." []	EFO:0003882	"Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis." []	65940	\N	\N	EFO	0	EFO	osteoporosis	osteoporosis
EFO:0004260	EFO:0003882	\N	"Diseases of BONES." []	EFO:0003882	"Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis." []	207204	\N	\N	EFO	1	EFO	bone disease	osteoporosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0003882	"Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis." []	560320	\N	\N	EFO	2	EFO	skeletal system disease	osteoporosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003882	"Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis." []	1142184	\N	\N	EFO	3	EFO	disease	osteoporosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003882	"Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis." []	2025050	\N	\N	EFO	4	EFO	disposition	osteoporosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003882	"Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis." []	3177857	\N	\N	EFO	5	EFO	material property	osteoporosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003882	"Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis." []	4387961	\N	\N	EFO	6	EFO	experimental factor	osteoporosis
EFO:0003884	\N	\N	"The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION." []	EFO:0003884	"The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION." []	65941	\N	\N	EFO	0	EFO	chronic kidney disease	chronic kidney disease
EFO:0003086	EFO:0003884	\N	"A disease affecting the kidneys" []	EFO:0003884	"The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION." []	207205	\N	\N	EFO	1	EFO	kidney disease	chronic kidney disease
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003884	"The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION." []	560321	\N	\N	EFO	2	EFO	disease	chronic kidney disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003884	"The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION." []	1142185	\N	\N	EFO	3	EFO	disposition	chronic kidney disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003884	"The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION." []	2025051	\N	\N	EFO	4	EFO	material property	chronic kidney disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003884	"The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION." []	3177858	\N	\N	EFO	5	EFO	experimental factor	chronic kidney disease
EFO:0003885	\N	\N	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	EFO:0003885	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	65942	\N	\N	EFO	0	EFO	multiple sclerosis	multiple sclerosis
EFO:0005140	EFO:0003885	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0003885	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	207206	\N	\N	EFO	1	EFO	autoimmune disease	multiple sclerosis
EFO:0005774	EFO:0003885	\N	"A disease affecting the brain or part of the brain." []	EFO:0003885	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	207207	\N	\N	EFO	1	EFO	brain disease	multiple sclerosis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003885	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	560322	\N	\N	EFO	2	EFO	immune system disease	multiple sclerosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003885	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	560323	\N	\N	EFO	2	EFO	nervous system disease	multiple sclerosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003885	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	1142186	\N	\N	EFO	3	EFO	disease	multiple sclerosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003885	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	1142187	\N	\N	EFO	3	EFO	disease	multiple sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003885	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	2025052	\N	\N	EFO	4	EFO	disposition	multiple sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003885	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	3177859	\N	\N	EFO	5	EFO	material property	multiple sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003885	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	4387962	\N	\N	EFO	6	EFO	experimental factor	multiple sclerosis
EFO:0003888	\N	\N	"A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)" []	EFO:0003888	"A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)" []	65943	\N	\N	EFO	0	EFO	attention deficit hyperactivity disorder	attention deficit hyperactivity disorder
EFO:0000677	EFO:0003888	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0003888	"A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)" []	207208	\N	\N	EFO	1	EFO	mental or behavioural disorder	attention deficit hyperactivity disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0003888	"A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)" []	560324	\N	\N	EFO	2	EFO	brain disease	attention deficit hyperactivity disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003888	"A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)" []	1142188	\N	\N	EFO	3	EFO	nervous system disease	attention deficit hyperactivity disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003888	"A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)" []	2025053	\N	\N	EFO	4	EFO	disease	attention deficit hyperactivity disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003888	"A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)" []	3177860	\N	\N	EFO	5	EFO	disposition	attention deficit hyperactivity disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003888	"A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)" []	4387963	\N	\N	EFO	6	EFO	material property	attention deficit hyperactivity disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003888	"A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)" []	5408695	\N	\N	EFO	7	EFO	experimental factor	attention deficit hyperactivity disorder
EFO:0003889	\N	\N	"Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot." []	EFO:0003889	"Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot." []	65944	\N	\N	EFO	0	EFO	functional laterality	functional laterality
HP:0000707	\N	\N	"An abnormality of the nervous system." [HPO:probinson]	EFO:0003889	"Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot." []	194595	\N	\N	EFO	0	EFO	Abnormality of the nervous system	functional laterality
EFO:0003890	\N	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0003890	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	65945	\N	\N	EFO	0	EFO	drug dependence	drug dependence
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0003890	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	207209	\N	\N	EFO	1	EFO	mental or behavioural disorder	drug dependence
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0003890	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	560325	\N	\N	EFO	2	EFO	brain disease	drug dependence
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003890	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	1142189	\N	\N	EFO	3	EFO	nervous system disease	drug dependence
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003890	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	2025054	\N	\N	EFO	4	EFO	disease	drug dependence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003890	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	3177861	\N	\N	EFO	5	EFO	disposition	drug dependence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003890	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	4387964	\N	\N	EFO	6	EFO	material property	drug dependence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003890	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	5408696	\N	\N	EFO	7	EFO	experimental factor	drug dependence
EFO:0003891	\N	\N	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	65946	\N	\N	EFO	0	EFO	biliary tract neoplasm	biliary tract neoplasm
EFO:1001513	EFO:0003891	\N	"Tumors or cancers of the LIVER." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	207210	\N	\N	EFO	1	EFO	liver neoplasm	biliary tract neoplasm
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	560326	\N	\N	EFO	2	EFO	liver disease	biliary tract neoplasm
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	560327	\N	\N	EFO	2	EFO	endocrine neoplasm	biliary tract neoplasm
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	1142190	\N	\N	EFO	3	EFO	digestive system disease	biliary tract neoplasm
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	1142191	\N	\N	EFO	3	EFO	endocrine system disease	biliary tract neoplasm
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	1142192	\N	\N	EFO	3	EFO	neoplasm	biliary tract neoplasm
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	1142193	\N	\N	EFO	3	EFO	endocrine system disease	biliary tract neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	2025055	\N	\N	EFO	4	EFO	disease	biliary tract neoplasm
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	2025056	\N	\N	EFO	4	EFO	disease	biliary tract neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	2025057	\N	\N	EFO	4	EFO	disease	biliary tract neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	3177862	\N	\N	EFO	5	EFO	disposition	biliary tract neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	4387965	\N	\N	EFO	6	EFO	material property	biliary tract neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003891	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	5408697	\N	\N	EFO	7	EFO	experimental factor	biliary tract neoplasm
EFO:0003892	\N	\N	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	EFO:0003892	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	65947	\N	\N	EFO	0	EFO	pulmonary function measurement	pulmonary function measurement
EFO:0001444	EFO:0003892	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0003892	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	207211	\N	\N	EFO	1	EFO	measurement	pulmonary function measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003892	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	560328	\N	\N	EFO	2	EFO	information entity	pulmonary function measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003892	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	1142194	\N	\N	EFO	3	EFO	experimental factor	pulmonary function measurement
EFO:0003893	\N	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0003893	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	65948	\N	\N	EFO	0	EFO	ovarian neoplasm	ovarian neoplasm
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0003893	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	207212	\N	\N	EFO	1	EFO	urogenital neoplasm	ovarian neoplasm
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0003893	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	207213	\N	\N	EFO	1	EFO	ovarian disease	ovarian neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003893	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	560329	\N	\N	EFO	2	EFO	neoplasm	ovarian neoplasm
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0003893	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	560330	\N	\N	EFO	2	EFO	reproductive system disease	ovarian neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003893	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	1142195	\N	\N	EFO	3	EFO	disease	ovarian neoplasm
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003893	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	1142196	\N	\N	EFO	3	EFO	disease	ovarian neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003893	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	2025058	\N	\N	EFO	4	EFO	disposition	ovarian neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003893	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	3177863	\N	\N	EFO	5	EFO	material property	ovarian neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003893	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	4387966	\N	\N	EFO	6	EFO	experimental factor	ovarian neoplasm
EFO:0003894	\N	\N	"A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors." []	EFO:0003894	"A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors." []	65949	\N	\N	EFO	0	EFO	acne	acne
EFO:1000636	EFO:0003894	\N	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	EFO:0003894	"A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors." []	207214	\N	\N	EFO	1	EFO	inflammatory skin disease	acne
EFO:0000701	EFO:1000636	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0003894	"A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors." []	560331	\N	\N	EFO	2	EFO	skin disease	acne
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003894	"A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors." []	1142197	\N	\N	EFO	3	EFO	disease	acne
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003894	"A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors." []	2025059	\N	\N	EFO	4	EFO	disposition	acne
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003894	"A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors." []	3177864	\N	\N	EFO	5	EFO	material property	acne
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003894	"A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors." []	4387967	\N	\N	EFO	6	EFO	experimental factor	acne
EFO:0003895	\N	\N	"Bleeding from the nose." []	EFO:0003895	"Bleeding from the nose." []	65950	\N	\N	EFO	0	EFO	epistaxis	epistaxis
EFO:0000319	EFO:0003895	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003895	"Bleeding from the nose." []	207215	\N	\N	EFO	1	EFO	cardiovascular disease	epistaxis
EFO:0000524	EFO:0003895	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0003895	"Bleeding from the nose." []	207216	\N	\N	EFO	1	EFO	head disease	epistaxis
EFO:0000684	EFO:0003895	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0003895	"Bleeding from the nose." []	207217	\N	\N	EFO	1	EFO	respiratory system disease	epistaxis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003895	"Bleeding from the nose." []	560332	\N	\N	EFO	2	EFO	disease	epistaxis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003895	"Bleeding from the nose." []	560333	\N	\N	EFO	2	EFO	disease	epistaxis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003895	"Bleeding from the nose." []	560334	\N	\N	EFO	2	EFO	disease	epistaxis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003895	"Bleeding from the nose." []	1142198	\N	\N	EFO	3	EFO	disposition	epistaxis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003895	"Bleeding from the nose." []	2025060	\N	\N	EFO	4	EFO	material property	epistaxis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003895	"Bleeding from the nose." []	3177865	\N	\N	EFO	5	EFO	experimental factor	epistaxis
EFO:0003896	\N	\N	"Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality." []	EFO:0003896	"Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality." []	65951	\N	\N	EFO	0	EFO	left ventricular hypertrophy	left ventricular hypertrophy
EFO:0002503	EFO:0003896	\N	"an increase in size of the cardiac tissue, not due to increased cell number" []	EFO:0003896	"Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality." []	207218	\N	\N	EFO	1	EFO	cardiac hypertrophy	left ventricular hypertrophy
EFO:0002460	EFO:0002503	\N	"Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells." []	EFO:0003896	"Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality." []	560335	\N	\N	EFO	2	EFO	hypertrophy	left ventricular hypertrophy
EFO:0000651	EFO:0002460	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003896	"Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality." []	1142199	\N	\N	EFO	3	EFO	phenotype	left ventricular hypertrophy
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003896	"Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality." []	2025061	\N	\N	EFO	4	EFO	quality	left ventricular hypertrophy
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003896	"Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality." []	3177866	\N	\N	EFO	5	EFO	material property	left ventricular hypertrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003896	"Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality." []	4387968	\N	\N	EFO	6	EFO	experimental factor	left ventricular hypertrophy
EFO:0003897	\N	\N	"Tumors or cancer of the STOMACH." []	EFO:0003897	"Tumors or cancer of the STOMACH." []	65952	\N	\N	EFO	0	EFO	stomach neoplasm	stomach neoplasm
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003897	"Tumors or cancer of the STOMACH." []	207219	\N	\N	EFO	1	EFO	digestive system disease	stomach neoplasm
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003897	"Tumors or cancer of the STOMACH." []	207220	\N	\N	EFO	1	EFO	neoplasm	stomach neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003897	"Tumors or cancer of the STOMACH." []	560336	\N	\N	EFO	2	EFO	disease	stomach neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003897	"Tumors or cancer of the STOMACH." []	560337	\N	\N	EFO	2	EFO	disease	stomach neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003897	"Tumors or cancer of the STOMACH." []	1142200	\N	\N	EFO	3	EFO	disposition	stomach neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003897	"Tumors or cancer of the STOMACH." []	2025062	\N	\N	EFO	4	EFO	material property	stomach neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003897	"Tumors or cancer of the STOMACH." []	3177867	\N	\N	EFO	5	EFO	experimental factor	stomach neoplasm
EFO:0003898	\N	\N	"A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions." []	EFO:0003898	"A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions." []	65953	\N	\N	EFO	0	EFO	ankylosing spondylitis	ankylosing spondylitis
EFO:0000706	EFO:0003898	\N	"Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." []	EFO:0003898	"A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions." []	207221	\N	\N	EFO	1	EFO	spondyloarthropathy	ankylosing spondylitis
EFO:0000540	EFO:0000706	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003898	"A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions." []	560338	\N	\N	EFO	2	EFO	immune system disease	ankylosing spondylitis
EFO:0005755	EFO:0000706	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0003898	"A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions." []	560339	\N	\N	EFO	2	EFO	rheumatic disease	ankylosing spondylitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003898	"A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions." []	1142201	\N	\N	EFO	3	EFO	disease	ankylosing spondylitis
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0003898	"A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions." []	1142202	\N	\N	EFO	3	EFO	skeletal system disease	ankylosing spondylitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003898	"A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions." []	3177869	\N	\N	EFO	5	EFO	disposition	ankylosing spondylitis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003898	"A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions." []	2025064	\N	\N	EFO	4	EFO	disease	ankylosing spondylitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003898	"A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions." []	4132648	\N	\N	EFO	6	EFO	material property	ankylosing spondylitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003898	"A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions." []	5180972	\N	\N	EFO	7	EFO	experimental factor	ankylosing spondylitis
EFO:0003899	\N	\N	"Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." []	EFO:0003899	"Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." []	65954	\N	\N	EFO	0	EFO	contracture	contracture
EFO:0002970	EFO:0003899	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:0003899	"Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." []	207222	\N	\N	EFO	1	EFO	muscular disease	contracture
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:0003899	"Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." []	560340	\N	\N	EFO	2	EFO	skeletal system disease	contracture
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003899	"Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." []	1142203	\N	\N	EFO	3	EFO	disease	contracture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003899	"Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." []	2025065	\N	\N	EFO	4	EFO	disposition	contracture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003899	"Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." []	3177870	\N	\N	EFO	5	EFO	material property	contracture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003899	"Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." []	4387970	\N	\N	EFO	6	EFO	experimental factor	contracture
EFO:0003900	\N	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	EFO:0003900	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	65955	\N	\N	EFO	0	EFO	ciliopathy	ciliopathy
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0003900	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	207223	\N	\N	EFO	1	EFO	genetic disorder	ciliopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003900	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	560341	\N	\N	EFO	2	EFO	disease	ciliopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003900	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	1142204	\N	\N	EFO	3	EFO	disposition	ciliopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003900	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	2025066	\N	\N	EFO	4	EFO	material property	ciliopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003900	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	3177871	\N	\N	EFO	5	EFO	experimental factor	ciliopathy
EFO:0003901	\N	\N	"Painful URINATION. It is often associated with infections of the lower URINARY TRACT." []	EFO:0003901	"Painful URINATION. It is often associated with infections of the lower URINARY TRACT." []	65956	\N	\N	EFO	0	EFO	dysuria	dysuria
EFO:0003765	EFO:0003901	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0003901	"Painful URINATION. It is often associated with infections of the lower URINARY TRACT." []	207224	\N	\N	EFO	1	EFO	sign or symptom	dysuria
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003901	"Painful URINATION. It is often associated with infections of the lower URINARY TRACT." []	560342	\N	\N	EFO	2	EFO	phenotype	dysuria
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003901	"Painful URINATION. It is often associated with infections of the lower URINARY TRACT." []	1142205	\N	\N	EFO	3	EFO	quality	dysuria
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003901	"Painful URINATION. It is often associated with infections of the lower URINARY TRACT." []	2025067	\N	\N	EFO	4	EFO	material property	dysuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003901	"Painful URINATION. It is often associated with infections of the lower URINARY TRACT." []	3177872	\N	\N	EFO	5	EFO	experimental factor	dysuria
EFO:0003902	\N	\N	"Broken bones in the vertebral column." []	EFO:0003902	"Broken bones in the vertebral column." []	65957	\N	\N	EFO	0	EFO	spinal fracture	spinal fracture
EFO:0003931	EFO:0003902	\N	"Breaks in bones." []	EFO:0003902	"Broken bones in the vertebral column." []	207225	\N	\N	EFO	1	EFO	bone fracture	spinal fracture
EFO:0004260	EFO:0003931	\N	"Diseases of BONES." []	EFO:0003902	"Broken bones in the vertebral column." []	560343	\N	\N	EFO	2	EFO	bone disease	spinal fracture
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0003902	"Broken bones in the vertebral column." []	1142206	\N	\N	EFO	3	EFO	skeletal system disease	spinal fracture
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003902	"Broken bones in the vertebral column." []	2025068	\N	\N	EFO	4	EFO	disease	spinal fracture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003902	"Broken bones in the vertebral column." []	3177873	\N	\N	EFO	5	EFO	disposition	spinal fracture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003902	"Broken bones in the vertebral column." []	4387971	\N	\N	EFO	6	EFO	material property	spinal fracture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003902	"Broken bones in the vertebral column." []	5408698	\N	\N	EFO	7	EFO	experimental factor	spinal fracture
EFO:0003906	\N	\N	"Surgical insertion of synthetic material to repair injured or diseased heart valves." []	EFO:0003906	"Surgical insertion of synthetic material to repair injured or diseased heart valves." []	65958	\N	\N	EFO	0	EFO	heart valve prosthesis	heart valve prosthesis
EFO:0002571	EFO:0003906	\N	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	EFO:0003906	"Surgical insertion of synthetic material to repair injured or diseased heart valves." []	207226	\N	\N	EFO	1	EFO	medical procedure	heart valve prosthesis
EFO:0002694	EFO:0002571	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003906	"Surgical insertion of synthetic material to repair injured or diseased heart valves." []	560344	\N	\N	EFO	2	EFO	experimental process	heart valve prosthesis
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003906	"Surgical insertion of synthetic material to repair injured or diseased heart valves." []	1142207	\N	\N	EFO	3	EFO	planned process	heart valve prosthesis
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003906	"Surgical insertion of synthetic material to repair injured or diseased heart valves." []	2025069	\N	\N	EFO	4	EFO	process	heart valve prosthesis
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003906	"Surgical insertion of synthetic material to repair injured or diseased heart valves." []	3177874	\N	\N	EFO	5	EFO	experimental factor	heart valve prosthesis
EFO:0003907	\N	\N	"The formation or presence of a blood clot (THROMBUS) within a deep vein in the lower extremity" []	EFO:0003907	"The formation or presence of a blood clot (THROMBUS) within a deep vein in the lower extremity" []	65959	\N	\N	EFO	0	EFO	deep vein thrombosis	deep vein thrombosis
HP:0004936	\N	\N	"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow." [HPO:probinson]	EFO:0003907	"The formation or presence of a blood clot (THROMBUS) within a deep vein in the lower extremity" []	194596	\N	\N	EFO	0	EFO	Venous thrombosis	deep vein thrombosis
EFO:0003911	\N	\N	"Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." []	EFO:0003911	"Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." []	65960	\N	\N	EFO	0	EFO	atrial flutter	atrial flutter
EFO:0005308	EFO:0003911	\N	"A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" []	EFO:0003911	"Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." []	207227	\N	\N	EFO	1	EFO	atrial tachycardia	atrial flutter
EFO:0004269	EFO:0005308	\N	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	EFO:0003911	"Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." []	560345	\N	\N	EFO	2	EFO	cardiac arrhythmia	atrial flutter
EFO:0003777	EFO:0004269	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0003911	"Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." []	1142208	\N	\N	EFO	3	EFO	heart disease	atrial flutter
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003911	"Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." []	2025070	\N	\N	EFO	4	EFO	cardiovascular disease	atrial flutter
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003911	"Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." []	3177875	\N	\N	EFO	5	EFO	disease	atrial flutter
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003911	"Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." []	4387972	\N	\N	EFO	6	EFO	disposition	atrial flutter
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003911	"Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." []	5408699	\N	\N	EFO	7	EFO	material property	atrial flutter
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003911	"Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." []	6147477	\N	\N	EFO	8	EFO	experimental factor	atrial flutter
EFO:0003912	\N	\N	"Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE." []	EFO:0003912	"Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE." []	65961	\N	\N	EFO	0	EFO	ankle brachial index	ankle brachial index
EFO:0005278	EFO:0003912	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0003912	"Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE." []	207228	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	ankle brachial index
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0003912	"Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE." []	560346	\N	\N	EFO	2	EFO	cardiovascular measurement	ankle brachial index
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0003912	"Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE." []	1142209	\N	\N	EFO	3	EFO	measurement	ankle brachial index
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003912	"Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE." []	2025071	\N	\N	EFO	4	EFO	information entity	ankle brachial index
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003912	"Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE." []	3177876	\N	\N	EFO	5	EFO	experimental factor	ankle brachial index
EFO:0003913	\N	\N	"The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION." []	EFO:0003913	"The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION." []	65962	\N	\N	EFO	0	EFO	angina pectoris	angina pectoris
HP:0001626	\N	\N	"Any abnormality of the cardiovascular system." [HPO:probinson]	EFO:0003913	"The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION." []	194597	\N	\N	EFO	0	EFO	Abnormality of the cardiovascular system	angina pectoris
EFO:0003914	\N	\N	"A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." []	EFO:0003914	"A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." []	65963	\N	\N	EFO	0	EFO	atherosclerosis	atherosclerosis
EFO:0004264	EFO:0003914	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0003914	"A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." []	207229	\N	\N	EFO	1	EFO	vascular disease	atherosclerosis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0003914	"A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." []	560347	\N	\N	EFO	2	EFO	cardiovascular disease	atherosclerosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003914	"A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." []	1142210	\N	\N	EFO	3	EFO	disease	atherosclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003914	"A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." []	2025072	\N	\N	EFO	4	EFO	disposition	atherosclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003914	"A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." []	3177877	\N	\N	EFO	5	EFO	material property	atherosclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003914	"A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." []	4387973	\N	\N	EFO	6	EFO	experimental factor	atherosclerosis
EFO:0003917	\N	\N	"CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)." []	EFO:0003917	"CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)." []	65964	\N	\N	EFO	0	EFO	premature birth	premature birth
EFO:0000651	EFO:0003917	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003917	"CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)." []	207230	\N	\N	EFO	1	EFO	phenotype	premature birth
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003917	"CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)." []	560348	\N	\N	EFO	2	EFO	quality	premature birth
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003917	"CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)." []	1142211	\N	\N	EFO	3	EFO	material property	premature birth
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003917	"CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)." []	2025073	\N	\N	EFO	4	EFO	experimental factor	premature birth
EFO:0003918	\N	\N	"A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)" []	EFO:0003918	"A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)" []	65965	\N	\N	EFO	0	EFO	obstructive sleep apnea	obstructive sleep apnea
EFO:0003877	EFO:0003918	\N	"Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types." []	EFO:0003918	"A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)" []	207231	\N	\N	EFO	1	EFO	sleep apnea	obstructive sleep apnea
EFO:0000684	EFO:0003877	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0003918	"A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)" []	560349	\N	\N	EFO	2	EFO	respiratory system disease	obstructive sleep apnea
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003918	"A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)" []	1142212	\N	\N	EFO	3	EFO	disease	obstructive sleep apnea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003918	"A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)" []	2025074	\N	\N	EFO	4	EFO	disposition	obstructive sleep apnea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003918	"A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)" []	3177878	\N	\N	EFO	5	EFO	material property	obstructive sleep apnea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003918	"A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)" []	4387974	\N	\N	EFO	6	EFO	experimental factor	obstructive sleep apnea
EFO:0003919	\N	\N	"Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury." []	EFO:0003919	"Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury." []	65966	\N	\N	EFO	0	EFO	risk factor	risk factor
BFO:0000016	EFO:0003919	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003919	"Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury." []	207232	\N	\N	EFO	1	EFO	disposition	risk factor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003919	"Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury." []	560350	\N	\N	EFO	2	EFO	material property	risk factor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003919	"Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury." []	1142213	\N	\N	EFO	3	EFO	experimental factor	risk factor
EFO:0003921	\N	\N	"Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)." []	EFO:0003921	"Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)." []	65967	\N	\N	EFO	0	EFO	pouchitis	pouchitis
EFO:0000405	EFO:0003921	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003921	"Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)." []	207233	\N	\N	EFO	1	EFO	digestive system disease	pouchitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003921	"Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)." []	560351	\N	\N	EFO	2	EFO	disease	pouchitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003921	"Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)." []	1142214	\N	\N	EFO	3	EFO	disposition	pouchitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003921	"Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)." []	2025075	\N	\N	EFO	4	EFO	material property	pouchitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003921	"Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)." []	3177879	\N	\N	EFO	5	EFO	experimental factor	pouchitis
EFO:0003922	\N	\N	"The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age." []	EFO:0003922	"The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age." []	65968	\N	\N	EFO	0	EFO	menopause	menopause
EFO:0003765	EFO:0003922	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0003922	"The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age." []	207234	\N	\N	EFO	1	EFO	sign or symptom	menopause
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003922	"The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age." []	560352	\N	\N	EFO	2	EFO	phenotype	menopause
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003922	"The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age." []	1142215	\N	\N	EFO	3	EFO	quality	menopause
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003922	"The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age." []	2025076	\N	\N	EFO	4	EFO	material property	menopause
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003922	"The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age." []	3177880	\N	\N	EFO	5	EFO	experimental factor	menopause
EFO:0003923	\N	\N	"The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS." []	EFO:0003923	"The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS." []	65969	\N	\N	EFO	0	EFO	bone density	bone density
EFO:0004516	EFO:0003923	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0003923	"The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS." []	207235	\N	\N	EFO	1	EFO	bone fracture related measurement	bone density
EFO:0004512	EFO:0004516	\N	"" []	EFO:0003923	"The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS." []	560353	\N	\N	EFO	2	EFO	bone measurement	bone density
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0003923	"The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS." []	1142216	\N	\N	EFO	3	EFO	measurement	bone density
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003923	"The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS." []	2025077	\N	\N	EFO	4	EFO	information entity	bone density
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003923	"The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS." []	3177881	\N	\N	EFO	5	EFO	experimental factor	bone density
EFO:0003924	\N	\N	"Color of hair or fur." []	EFO:0003924	"Color of hair or fur." []	65970	\N	\N	EFO	0	EFO	hair color	hair color
EFO:0005038	EFO:0003924	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0003924	"Color of hair or fur." []	207236	\N	\N	EFO	1	EFO	hair morphology	hair color
EFO:0000651	EFO:0005038	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003924	"Color of hair or fur." []	560354	\N	\N	EFO	2	EFO	phenotype	hair color
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003924	"Color of hair or fur." []	1142217	\N	\N	EFO	3	EFO	quality	hair color
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003924	"Color of hair or fur." []	2025078	\N	\N	EFO	4	EFO	material property	hair color
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003924	"Color of hair or fur." []	3177882	\N	\N	EFO	5	EFO	experimental factor	hair color
EFO:0003925	\N	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0003925	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	65971	\N	\N	EFO	0	EFO	cognition	cognition
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0003925	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	207237	\N	\N	EFO	1	EFO	mental process	cognition
EFO:0003926	\N	\N	"Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury." []	EFO:0003926	"Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury." []	65972	\N	\N	EFO	0	EFO	neuropsychological test	neuropsychological test
EFO:0006848	EFO:0003926	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0003926	"Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury." []	207238	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	neuropsychological test
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0003926	"Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury." []	560355	\N	\N	EFO	2	EFO	measurement	neuropsychological test
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003926	"Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury." []	1142218	\N	\N	EFO	3	EFO	information entity	neuropsychological test
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003926	"Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury." []	2025079	\N	\N	EFO	4	EFO	experimental factor	neuropsychological test
EFO:0003928	\N	\N	"ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT." []	EFO:0003928	"ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT." []	65973	\N	\N	EFO	0	EFO	necrotizing enterocolitis	necrotizing enterocolitis
EFO:1001481	EFO:0003928	\N	"Enterocolitis or coloenteritis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or  most frequently  by significant losses of water and minerals, the consequence of diarrhea and vomiting." []	EFO:0003928	"ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT." []	207239	\N	\N	EFO	1	EFO	enterocolitis	necrotizing enterocolitis
EFO:0000405	EFO:1001481	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003928	"ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT." []	560356	\N	\N	EFO	2	EFO	digestive system disease	necrotizing enterocolitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003928	"ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT." []	1142219	\N	\N	EFO	3	EFO	disease	necrotizing enterocolitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003928	"ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT." []	2025080	\N	\N	EFO	4	EFO	disposition	necrotizing enterocolitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003928	"ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT." []	3177883	\N	\N	EFO	5	EFO	material property	necrotizing enterocolitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003928	"ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT." []	4387975	\N	\N	EFO	6	EFO	experimental factor	necrotizing enterocolitis
EFO:0003929	\N	\N	"The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	EFO:0003929	"The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	65974	\N	\N	EFO	0	EFO	relapsing-remitting multiple sclerosis	relapsing-remitting multiple sclerosis
EFO:0003885	EFO:0003929	\N	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	EFO:0003929	"The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	207240	\N	\N	EFO	1	EFO	multiple sclerosis	relapsing-remitting multiple sclerosis
EFO:0005140	EFO:0003885	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0003929	"The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	560357	\N	\N	EFO	2	EFO	autoimmune disease	relapsing-remitting multiple sclerosis
EFO:0005774	EFO:0003885	\N	"A disease affecting the brain or part of the brain." []	EFO:0003929	"The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	560358	\N	\N	EFO	2	EFO	brain disease	relapsing-remitting multiple sclerosis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003929	"The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	1142220	\N	\N	EFO	3	EFO	immune system disease	relapsing-remitting multiple sclerosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0003929	"The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	1142221	\N	\N	EFO	3	EFO	nervous system disease	relapsing-remitting multiple sclerosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003929	"The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	2025081	\N	\N	EFO	4	EFO	disease	relapsing-remitting multiple sclerosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003929	"The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	2025082	\N	\N	EFO	4	EFO	disease	relapsing-remitting multiple sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003929	"The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	3177884	\N	\N	EFO	5	EFO	disposition	relapsing-remitting multiple sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003929	"The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	4387976	\N	\N	EFO	6	EFO	material property	relapsing-remitting multiple sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003929	"The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" []	5408700	\N	\N	EFO	7	EFO	experimental factor	relapsing-remitting multiple sclerosis
EFO:0003930	\N	\N	"The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION." []	EFO:0003930	"The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION." []	65975	\N	\N	EFO	0	EFO	menarche	menarche
EFO:0003765	EFO:0003930	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0003930	"The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION." []	207241	\N	\N	EFO	1	EFO	sign or symptom	menarche
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003930	"The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION." []	560359	\N	\N	EFO	2	EFO	phenotype	menarche
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003930	"The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION." []	1142222	\N	\N	EFO	3	EFO	quality	menarche
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003930	"The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION." []	2025083	\N	\N	EFO	4	EFO	material property	menarche
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003930	"The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION." []	3177885	\N	\N	EFO	5	EFO	experimental factor	menarche
EFO:0003931	\N	\N	"Breaks in bones." []	EFO:0003931	"Breaks in bones." []	65976	\N	\N	EFO	0	EFO	bone fracture	bone fracture
EFO:0004260	EFO:0003931	\N	"Diseases of BONES." []	EFO:0003931	"Breaks in bones." []	207242	\N	\N	EFO	1	EFO	bone disease	bone fracture
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0003931	"Breaks in bones." []	560360	\N	\N	EFO	2	EFO	skeletal system disease	bone fracture
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003931	"Breaks in bones." []	1142223	\N	\N	EFO	3	EFO	disease	bone fracture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003931	"Breaks in bones." []	2025084	\N	\N	EFO	4	EFO	disposition	bone fracture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003931	"Breaks in bones." []	3177886	\N	\N	EFO	5	EFO	material property	bone fracture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003931	"Breaks in bones." []	4387977	\N	\N	EFO	6	EFO	experimental factor	bone fracture
EFO:0003932	\N	\N	"Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli." []	EFO:0003932	"Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli." []	65977	\N	\N	EFO	0	EFO	bacterial vaginosis	bacterial vaginosis
EFO:0000512	EFO:0003932	\N	"any diease of the reproductive system" []	EFO:0003932	"Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli." []	207243	\N	\N	EFO	1	EFO	reproductive system disease	bacterial vaginosis
EFO:0000771	EFO:0003932	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0003932	"Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli." []	207244	\N	\N	EFO	1	EFO	bacterial disease	bacterial vaginosis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003932	"Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli." []	560361	\N	\N	EFO	2	EFO	disease	bacterial vaginosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0003932	"Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli." []	560362	\N	\N	EFO	2	EFO	infectious disease	bacterial vaginosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003932	"Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli." []	2025086	\N	\N	EFO	4	EFO	disposition	bacterial vaginosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003932	"Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli." []	1142225	\N	\N	EFO	3	EFO	disease	bacterial vaginosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003932	"Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli." []	2999570	\N	\N	EFO	5	EFO	material property	bacterial vaginosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003932	"Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli." []	4132649	\N	\N	EFO	6	EFO	experimental factor	bacterial vaginosis
EFO:0003935	\N	\N	"The state wherein the person is well adjusted." []	EFO:0003935	"The state wherein the person is well adjusted." []	65978	\N	\N	EFO	0	EFO	mental health	mental health
BFO:0000016	EFO:0003935	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003935	"The state wherein the person is well adjusted." []	207245	\N	\N	EFO	1	EFO	disposition	mental health
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003935	"The state wherein the person is well adjusted." []	560363	\N	\N	EFO	2	EFO	material property	mental health
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003935	"The state wherein the person is well adjusted." []	1142226	\N	\N	EFO	3	EFO	experimental factor	mental health
EFO:0003938	\N	\N	"A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)" []	EFO:0003938	"A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)" []	65979	\N	\N	EFO	0	EFO	aphthous ulcer	aphthous ulcer
EFO:1001047	EFO:0003938	\N	"Any disease of the oral cavity" []	EFO:0003938	"A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)" []	207246	\N	\N	EFO	1	EFO	mouth disease	aphthous ulcer
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003938	"A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)" []	560364	\N	\N	EFO	2	EFO	digestive system disease	aphthous ulcer
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0003938	"A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)" []	560365	\N	\N	EFO	2	EFO	head disease	aphthous ulcer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003938	"A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)" []	1142227	\N	\N	EFO	3	EFO	disease	aphthous ulcer
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003938	"A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)" []	1142228	\N	\N	EFO	3	EFO	disease	aphthous ulcer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003938	"A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)" []	2025087	\N	\N	EFO	4	EFO	disposition	aphthous ulcer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003938	"A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)" []	3177888	\N	\N	EFO	5	EFO	material property	aphthous ulcer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003938	"A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)" []	4387978	\N	\N	EFO	6	EFO	experimental factor	aphthous ulcer
EFO:0003939	\N	\N	"Total number of calories taken in daily whether ingested or by parenteral routes." []	EFO:0003939	"Total number of calories taken in daily whether ingested or by parenteral routes." []	65980	\N	\N	EFO	0	EFO	energy intake	energy intake
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	EFO:0003939	"Total number of calories taken in daily whether ingested or by parenteral routes." []	194598	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	energy intake
EFO:0003940	\N	\N	"The physical activity of a human or an animal as a behavioral phenomenon." []	EFO:0003940	"The physical activity of a human or an animal as a behavioral phenomenon." []	65981	\N	\N	EFO	0	EFO	physical activity	physical activity
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	EFO:0003940	"The physical activity of a human or an animal as a behavioral phenomenon." []	194599	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	physical activity
EFO:0003941	\N	\N	"http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin" []	EFO:0003941	"http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin" []	65982	\N	\N	EFO	0	EFO	sex hormone-binding globulin	sex hormone-binding globulin
CHEBI:17089	EFO:0003941	\N	"" []	EFO:0003941	"http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin" []	207247	\N	\N	EFO	1	EFO	glycoprotein	sex hormone-binding globulin
CHEBI:36080	CHEBI:17089	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0003941	"http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin" []	560366	\N	\N	EFO	2	EFO	protein	sex hormone-binding globulin
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0003941	"http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin" []	1142229	\N	\N	EFO	3	EFO	chemical compound	sex hormone-binding globulin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0003941	"http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin" []	2025088	\N	\N	EFO	4	EFO	chemical entity	sex hormone-binding globulin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003941	"http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin" []	3177889	\N	\N	EFO	5	EFO	material entity	sex hormone-binding globulin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003941	"http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin" []	4387979	\N	\N	EFO	6	EFO	experimental factor	sex hormone-binding globulin
EFO:0003942	\N	\N	"Transplantation between animals of different species." []	EFO:0003942	"Transplantation between animals of different species." []	65983	\N	\N	EFO	0	EFO	Xenograft	Xenograft
EFO:0002571	EFO:0003942	\N	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	EFO:0003942	"Transplantation between animals of different species." []	207248	\N	\N	EFO	1	EFO	medical procedure	Xenograft
EFO:0002694	EFO:0002571	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003942	"Transplantation between animals of different species." []	560367	\N	\N	EFO	2	EFO	experimental process	Xenograft
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003942	"Transplantation between animals of different species." []	1142230	\N	\N	EFO	3	EFO	planned process	Xenograft
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003942	"Transplantation between animals of different species." []	2025089	\N	\N	EFO	4	EFO	process	Xenograft
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003942	"Transplantation between animals of different species." []	3177890	\N	\N	EFO	5	EFO	experimental factor	Xenograft
EFO:0003943	\N	\N	"A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." []	EFO:0003943	"A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." []	65984	\N	\N	EFO	0	EFO	humerus fracture	humerus fracture
EFO:0003931	EFO:0003943	\N	"Breaks in bones." []	EFO:0003943	"A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." []	207249	\N	\N	EFO	1	EFO	bone fracture	humerus fracture
EFO:0004260	EFO:0003931	\N	"Diseases of BONES." []	EFO:0003943	"A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." []	560368	\N	\N	EFO	2	EFO	bone disease	humerus fracture
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0003943	"A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." []	1142231	\N	\N	EFO	3	EFO	skeletal system disease	humerus fracture
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003943	"A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." []	2025090	\N	\N	EFO	4	EFO	disease	humerus fracture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003943	"A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." []	3177891	\N	\N	EFO	5	EFO	disposition	humerus fracture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003943	"A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." []	4387980	\N	\N	EFO	6	EFO	material property	humerus fracture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003943	"A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." []	5408701	\N	\N	EFO	7	EFO	experimental factor	humerus fracture
EFO:0003944	\N	\N	"Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." []	EFO:0003944	"Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." []	65985	\N	\N	EFO	0	EFO	tibia fracture	tibia fracture
EFO:0003931	EFO:0003944	\N	"Breaks in bones." []	EFO:0003944	"Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." []	207250	\N	\N	EFO	1	EFO	bone fracture	tibia fracture
EFO:0004260	EFO:0003931	\N	"Diseases of BONES." []	EFO:0003944	"Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." []	560369	\N	\N	EFO	2	EFO	bone disease	tibia fracture
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0003944	"Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." []	1142232	\N	\N	EFO	3	EFO	skeletal system disease	tibia fracture
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003944	"Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." []	2025091	\N	\N	EFO	4	EFO	disease	tibia fracture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003944	"Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." []	3177892	\N	\N	EFO	5	EFO	disposition	tibia fracture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003944	"Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." []	4387981	\N	\N	EFO	6	EFO	material property	tibia fracture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003944	"Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." []	5408702	\N	\N	EFO	7	EFO	experimental factor	tibia fracture
EFO:0003946	\N	\N	"Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain." []	EFO:0003946	"Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain." []	65986	\N	\N	EFO	0	EFO	Fuchs' endothelial dystrophy	Fuchs' endothelial dystrophy
EFO:0000524	EFO:0003946	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0003946	"Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain." []	207251	\N	\N	EFO	1	EFO	head disease	Fuchs' endothelial dystrophy
EFO:0003966	EFO:0003946	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0003946	"Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain." []	207252	\N	\N	EFO	1	EFO	eye disease	Fuchs' endothelial dystrophy
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003946	"Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain." []	560370	\N	\N	EFO	2	EFO	disease	Fuchs' endothelial dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003946	"Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain." []	560371	\N	\N	EFO	2	EFO	disease	Fuchs' endothelial dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003946	"Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain." []	1142233	\N	\N	EFO	3	EFO	disposition	Fuchs' endothelial dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003946	"Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain." []	2025092	\N	\N	EFO	4	EFO	material property	Fuchs' endothelial dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003946	"Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain." []	3177893	\N	\N	EFO	5	EFO	experimental factor	Fuchs' endothelial dystrophy
EFO:0003947	\N	\N	"Behavior-response patterns that characterize the individual." []	EFO:0003947	"Behavior-response patterns that characterize the individual." []	65987	\N	\N	EFO	0	EFO	personality	personality
BFO:0000019	EFO:0003947	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003947	"Behavior-response patterns that characterize the individual." []	207253	\N	\N	EFO	1	EFO	quality	personality
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003947	"Behavior-response patterns that characterize the individual." []	560372	\N	\N	EFO	2	EFO	material property	personality
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003947	"Behavior-response patterns that characterize the individual." []	1142234	\N	\N	EFO	3	EFO	experimental factor	personality
EFO:0003948	\N	\N	"Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER." []	EFO:0003948	"Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER." []	65988	\N	\N	EFO	0	EFO	gastroesophageal reflux disease	gastroesophageal reflux disease
EFO:0000405	EFO:0003948	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0003948	"Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER." []	207254	\N	\N	EFO	1	EFO	digestive system disease	gastroesophageal reflux disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003948	"Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER." []	560373	\N	\N	EFO	2	EFO	disease	gastroesophageal reflux disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003948	"Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER." []	1142235	\N	\N	EFO	3	EFO	disposition	gastroesophageal reflux disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003948	"Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER." []	2025093	\N	\N	EFO	4	EFO	material property	gastroesophageal reflux disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003948	"Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER." []	3177894	\N	\N	EFO	5	EFO	experimental factor	gastroesophageal reflux disease
EFO:0003949	\N	\N	"Color of the iris." []	EFO:0003949	"Color of the iris." []	65989	\N	\N	EFO	0	EFO	eye color	eye color
EFO:0000651	EFO:0003949	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003949	"Color of the iris." []	207255	\N	\N	EFO	1	EFO	phenotype	eye color
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003949	"Color of the iris." []	560374	\N	\N	EFO	2	EFO	quality	eye color
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003949	"Color of the iris." []	1142236	\N	\N	EFO	3	EFO	material property	eye color
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003949	"Color of the iris." []	2025094	\N	\N	EFO	4	EFO	experimental factor	eye color
EFO:0003950	\N	\N	"Fractures of the larger bone of the forearm." []	EFO:0003950	"Fractures of the larger bone of the forearm." []	65990	\N	\N	EFO	0	EFO	ulna fracture	ulna fracture
EFO:0003931	EFO:0003950	\N	"Breaks in bones." []	EFO:0003950	"Fractures of the larger bone of the forearm." []	207256	\N	\N	EFO	1	EFO	bone fracture	ulna fracture
EFO:0004260	EFO:0003931	\N	"Diseases of BONES." []	EFO:0003950	"Fractures of the larger bone of the forearm." []	560375	\N	\N	EFO	2	EFO	bone disease	ulna fracture
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0003950	"Fractures of the larger bone of the forearm." []	1142237	\N	\N	EFO	3	EFO	skeletal system disease	ulna fracture
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003950	"Fractures of the larger bone of the forearm." []	2025095	\N	\N	EFO	4	EFO	disease	ulna fracture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003950	"Fractures of the larger bone of the forearm." []	3177895	\N	\N	EFO	5	EFO	disposition	ulna fracture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003950	"Fractures of the larger bone of the forearm." []	4387982	\N	\N	EFO	6	EFO	material property	ulna fracture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003950	"Fractures of the larger bone of the forearm." []	5408703	\N	\N	EFO	7	EFO	experimental factor	ulna fracture
EFO:0003951	\N	\N	"Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply." []	EFO:0003951	"Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply." []	65991	\N	\N	EFO	0	EFO	percutaneous transluminal coronary angioplasty	percutaneous transluminal coronary angioplasty
EFO:0002571	EFO:0003951	\N	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	EFO:0003951	"Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply." []	207257	\N	\N	EFO	1	EFO	medical procedure	percutaneous transluminal coronary angioplasty
EFO:0002694	EFO:0002571	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003951	"Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply." []	560376	\N	\N	EFO	2	EFO	experimental process	percutaneous transluminal coronary angioplasty
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003951	"Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply." []	1142238	\N	\N	EFO	3	EFO	planned process	percutaneous transluminal coronary angioplasty
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003951	"Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply." []	2025096	\N	\N	EFO	4	EFO	process	percutaneous transluminal coronary angioplasty
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003951	"Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply." []	3177896	\N	\N	EFO	5	EFO	experimental factor	percutaneous transluminal coronary angioplasty
EFO:0003952	\N	\N	"Fever in which the etiology cannot be ascertained." []	EFO:0003952	"Fever in which the etiology cannot be ascertained." []	65992	\N	\N	EFO	0	EFO	fever of unknown origin	fever of unknown origin
EFO:0003765	EFO:0003952	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0003952	"Fever in which the etiology cannot be ascertained." []	207258	\N	\N	EFO	1	EFO	sign or symptom	fever of unknown origin
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003952	"Fever in which the etiology cannot be ascertained." []	560377	\N	\N	EFO	2	EFO	phenotype	fever of unknown origin
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003952	"Fever in which the etiology cannot be ascertained." []	1142239	\N	\N	EFO	3	EFO	quality	fever of unknown origin
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003952	"Fever in which the etiology cannot be ascertained." []	2025097	\N	\N	EFO	4	EFO	material property	fever of unknown origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003952	"Fever in which the etiology cannot be ascertained." []	3177897	\N	\N	EFO	5	EFO	experimental factor	fever of unknown origin
EFO:0003953	\N	\N	"Excision of the prepuce of the penis (FORESKIN) or part of it." []	EFO:0003953	"Excision of the prepuce of the penis (FORESKIN) or part of it." []	65993	\N	\N	EFO	0	EFO	circumcision	circumcision
EFO:0002571	EFO:0003953	\N	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	EFO:0003953	"Excision of the prepuce of the penis (FORESKIN) or part of it." []	207259	\N	\N	EFO	1	EFO	medical procedure	circumcision
EFO:0002694	EFO:0002571	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003953	"Excision of the prepuce of the penis (FORESKIN) or part of it." []	560378	\N	\N	EFO	2	EFO	experimental process	circumcision
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003953	"Excision of the prepuce of the penis (FORESKIN) or part of it." []	1142240	\N	\N	EFO	3	EFO	planned process	circumcision
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003953	"Excision of the prepuce of the penis (FORESKIN) or part of it." []	2025098	\N	\N	EFO	4	EFO	process	circumcision
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003953	"Excision of the prepuce of the penis (FORESKIN) or part of it." []	3177898	\N	\N	EFO	5	EFO	experimental factor	circumcision
EFO:0003955	\N	\N	"Bacterial diseases transmitted or propagated by sexual conduct." []	EFO:0003955	"Bacterial diseases transmitted or propagated by sexual conduct." []	65994	\N	\N	EFO	0	EFO	bacterial sexually transmitted disease	bacterial sexually transmitted disease
EFO:0000512	EFO:0003955	\N	"any diease of the reproductive system" []	EFO:0003955	"Bacterial diseases transmitted or propagated by sexual conduct." []	207260	\N	\N	EFO	1	EFO	reproductive system disease	bacterial sexually transmitted disease
EFO:0000771	EFO:0003955	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0003955	"Bacterial diseases transmitted or propagated by sexual conduct." []	207261	\N	\N	EFO	1	EFO	bacterial disease	bacterial sexually transmitted disease
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003955	"Bacterial diseases transmitted or propagated by sexual conduct." []	560379	\N	\N	EFO	2	EFO	disease	bacterial sexually transmitted disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0003955	"Bacterial diseases transmitted or propagated by sexual conduct." []	560380	\N	\N	EFO	2	EFO	infectious disease	bacterial sexually transmitted disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003955	"Bacterial diseases transmitted or propagated by sexual conduct." []	2025100	\N	\N	EFO	4	EFO	disposition	bacterial sexually transmitted disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003955	"Bacterial diseases transmitted or propagated by sexual conduct." []	1142242	\N	\N	EFO	3	EFO	disease	bacterial sexually transmitted disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003955	"Bacterial diseases transmitted or propagated by sexual conduct." []	2999571	\N	\N	EFO	5	EFO	material property	bacterial sexually transmitted disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003955	"Bacterial diseases transmitted or propagated by sexual conduct." []	4132650	\N	\N	EFO	6	EFO	experimental factor	bacterial sexually transmitted disease
EFO:0003956	\N	\N	"Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS." []	EFO:0003956	"Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS." []	65995	\N	\N	EFO	0	EFO	seasonal allergic rhinitis	seasonal allergic rhinitis
EFO:0005854	EFO:0003956	\N	"Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." []	EFO:0003956	"Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS." []	207262	\N	\N	EFO	1	EFO	allergic rhinitis	seasonal allergic rhinitis
EFO:0003785	EFO:0005854	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0003956	"Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS." []	560381	\N	\N	EFO	2	EFO	allergy	seasonal allergic rhinitis
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0003956	"Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS." []	1142243	\N	\N	EFO	3	EFO	immune system disease	seasonal allergic rhinitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003956	"Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS." []	2025101	\N	\N	EFO	4	EFO	disease	seasonal allergic rhinitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003956	"Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS." []	3177900	\N	\N	EFO	5	EFO	disposition	seasonal allergic rhinitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003956	"Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS." []	4387983	\N	\N	EFO	6	EFO	material property	seasonal allergic rhinitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003956	"Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS." []	5408704	\N	\N	EFO	7	EFO	experimental factor	seasonal allergic rhinitis
EFO:0003957	\N	\N	"Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." []	EFO:0003957	"Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." []	65996	\N	\N	EFO	0	EFO	radius fracture	radius fracture
EFO:0003931	EFO:0003957	\N	"Breaks in bones." []	EFO:0003957	"Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." []	207263	\N	\N	EFO	1	EFO	bone fracture	radius fracture
EFO:0004260	EFO:0003931	\N	"Diseases of BONES." []	EFO:0003957	"Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." []	560382	\N	\N	EFO	2	EFO	bone disease	radius fracture
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0003957	"Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." []	1142244	\N	\N	EFO	3	EFO	skeletal system disease	radius fracture
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003957	"Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." []	2025102	\N	\N	EFO	4	EFO	disease	radius fracture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003957	"Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." []	3177901	\N	\N	EFO	5	EFO	disposition	radius fracture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003957	"Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." []	4387984	\N	\N	EFO	6	EFO	material property	radius fracture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003957	"Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." []	5408705	\N	\N	EFO	7	EFO	experimental factor	radius fracture
EFO:0003958	\N	\N	"An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight." []	EFO:0003958	"An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight." []	65997	\N	\N	EFO	0	EFO	sunburn	sunburn
EFO:0000701	EFO:0003958	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0003958	"An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight." []	207264	\N	\N	EFO	1	EFO	skin disease	sunburn
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003958	"An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight." []	560383	\N	\N	EFO	2	EFO	disease	sunburn
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003958	"An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight." []	1142245	\N	\N	EFO	3	EFO	disposition	sunburn
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003958	"An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight." []	2025103	\N	\N	EFO	4	EFO	material property	sunburn
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003958	"An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight." []	3177902	\N	\N	EFO	5	EFO	experimental factor	sunburn
EFO:0003959	\N	\N	"Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region." []	EFO:0003959	"Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region." []	65998	\N	\N	EFO	0	EFO	cleft lip	cleft lip
HP:0000202	\N	\N	"The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [HPO:probinson]	EFO:0003959	"Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region." []	194600	\N	\N	EFO	0	EFO	Oral cleft	cleft lip
EFO:0003960	\N	\N	"A computed tomography scan (CT scan) is the output of an imaging technology which produces a 3D iimage of the subject." []	EFO:0003960	"A computed tomography scan (CT scan) is the output of an imaging technology which produces a 3D iimage of the subject." []	65999	\N	\N	EFO	0	EFO	computed tomography	computed tomography
EFO:0001444	EFO:0003960	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0003960	"A computed tomography scan (CT scan) is the output of an imaging technology which produces a 3D iimage of the subject." []	207265	\N	\N	EFO	1	EFO	measurement	computed tomography
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003960	"A computed tomography scan (CT scan) is the output of an imaging technology which produces a 3D iimage of the subject." []	560384	\N	\N	EFO	2	EFO	information entity	computed tomography
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003960	"A computed tomography scan (CT scan) is the output of an imaging technology which produces a 3D iimage of the subject." []	1142246	\N	\N	EFO	3	EFO	experimental factor	computed tomography
EFO:0003961	\N	\N	"Therapeutic use of hormones to alleviate the effects of hormone deficiency." []	EFO:0003961	"Therapeutic use of hormones to alleviate the effects of hormone deficiency." []	66000	\N	\N	EFO	0	EFO	hormone replacement therapy	hormone replacement therapy
EFO:0000727	EFO:0003961	\N	"A process in which the act is intended to modify or alter some other material entity," []	EFO:0003961	"Therapeutic use of hormones to alleviate the effects of hormone deficiency." []	207266	\N	\N	EFO	1	EFO	treatment	hormone replacement therapy
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0003961	"Therapeutic use of hormones to alleviate the effects of hormone deficiency." []	560385	\N	\N	EFO	2	EFO	experimental process	hormone replacement therapy
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0003961	"Therapeutic use of hormones to alleviate the effects of hormone deficiency." []	1142247	\N	\N	EFO	3	EFO	planned process	hormone replacement therapy
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0003961	"Therapeutic use of hormones to alleviate the effects of hormone deficiency." []	2025104	\N	\N	EFO	4	EFO	process	hormone replacement therapy
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003961	"Therapeutic use of hormones to alleviate the effects of hormone deficiency." []	3177903	\N	\N	EFO	5	EFO	experimental factor	hormone replacement therapy
EFO:0003962	\N	\N	"Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return." []	EFO:0003962	"Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return." []	66001	\N	\N	EFO	0	EFO	pulsed doppler echocardiography	pulsed doppler echocardiography
EFO:0004311	EFO:0003962	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0003962	"Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return." []	207267	\N	\N	EFO	1	EFO	heart function measurement	pulsed doppler echocardiography
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0003962	"Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return." []	560386	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	pulsed doppler echocardiography
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0003962	"Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return." []	1142248	\N	\N	EFO	3	EFO	cardiovascular measurement	pulsed doppler echocardiography
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0003962	"Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return." []	2025105	\N	\N	EFO	4	EFO	measurement	pulsed doppler echocardiography
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003962	"Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return." []	3177904	\N	\N	EFO	5	EFO	information entity	pulsed doppler echocardiography
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003962	"Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return." []	4387985	\N	\N	EFO	6	EFO	experimental factor	pulsed doppler echocardiography
EFO:0003963	\N	\N	"Disorders of increased melanin pigmentation that develop without preceding inflammatory disease." []	EFO:0003963	"Disorders of increased melanin pigmentation that develop without preceding inflammatory disease." []	66002	\N	\N	EFO	0	EFO	freckles	freckles
EFO:0003784	EFO:0003963	\N	"Coloration of the skin." []	EFO:0003963	"Disorders of increased melanin pigmentation that develop without preceding inflammatory disease." []	207268	\N	\N	EFO	1	EFO	skin pigmentation	freckles
EFO:0000651	EFO:0003784	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0003963	"Disorders of increased melanin pigmentation that develop without preceding inflammatory disease." []	560387	\N	\N	EFO	2	EFO	phenotype	freckles
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0003963	"Disorders of increased melanin pigmentation that develop without preceding inflammatory disease." []	1142249	\N	\N	EFO	3	EFO	quality	freckles
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003963	"Disorders of increased melanin pigmentation that develop without preceding inflammatory disease." []	2025106	\N	\N	EFO	4	EFO	material property	freckles
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003963	"Disorders of increased melanin pigmentation that develop without preceding inflammatory disease." []	3177905	\N	\N	EFO	5	EFO	experimental factor	freckles
EFO:0003964	\N	\N	"Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." []	EFO:0003964	"Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." []	66003	\N	\N	EFO	0	EFO	hip fracture	hip fracture
EFO:0003931	EFO:0003964	\N	"Breaks in bones." []	EFO:0003964	"Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." []	207269	\N	\N	EFO	1	EFO	bone fracture	hip fracture
EFO:0004260	EFO:0003931	\N	"Diseases of BONES." []	EFO:0003964	"Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." []	560388	\N	\N	EFO	2	EFO	bone disease	hip fracture
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0003964	"Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." []	1142250	\N	\N	EFO	3	EFO	skeletal system disease	hip fracture
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003964	"Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." []	2025107	\N	\N	EFO	4	EFO	disease	hip fracture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003964	"Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." []	3177906	\N	\N	EFO	5	EFO	disposition	hip fracture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003964	"Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." []	4387986	\N	\N	EFO	6	EFO	material property	hip fracture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003964	"Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." []	5408706	\N	\N	EFO	7	EFO	experimental factor	hip fracture
EFO:0003965	\N	\N	"An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age." []	EFO:0003965	"An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age." []	66004	\N	\N	EFO	0	EFO	very low birth weight infant	very low birth weight infant
EFO:0004344	EFO:0003965	\N	"The mass or quantity of heaviness of an individual atBIRTH. It is expressed by units of pounds or kilograms." []	EFO:0003965	"An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age." []	207270	\N	\N	EFO	1	EFO	birth weight	very low birth weight infant
EFO:0004338	EFO:0004344	\N	"The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." []	EFO:0003965	"An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age." []	560389	\N	\N	EFO	2	EFO	body weight	very low birth weight infant
EFO:0004324	EFO:0004338	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0003965	"An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age." []	1142251	\N	\N	EFO	3	EFO	body weights and measures	very low birth weight infant
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0003965	"An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age." []	2025108	\N	\N	EFO	4	EFO	anthropometric measurement	very low birth weight infant
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0003965	"An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age." []	3177907	\N	\N	EFO	5	EFO	measurement	very low birth weight infant
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003965	"An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age." []	4387987	\N	\N	EFO	6	EFO	information entity	very low birth weight infant
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003965	"An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age." []	5408707	\N	\N	EFO	7	EFO	experimental factor	very low birth weight infant
EFO:0003966	\N	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0003966	"An eye and adnexa disease that is located in the eye." []	66005	\N	\N	EFO	0	EFO	eye disease	eye disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003966	"An eye and adnexa disease that is located in the eye." []	207271	\N	\N	EFO	1	EFO	disease	eye disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003966	"An eye and adnexa disease that is located in the eye." []	560390	\N	\N	EFO	2	EFO	disposition	eye disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003966	"An eye and adnexa disease that is located in the eye." []	1142252	\N	\N	EFO	3	EFO	material property	eye disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003966	"An eye and adnexa disease that is located in the eye." []	2025109	\N	\N	EFO	4	EFO	experimental factor	eye disease
EFO:0003967	\N	\N	"A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." []	EFO:0003967	"A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." []	66006	\N	\N	EFO	0	EFO	vascular sarcoma	vascular sarcoma
EFO:0000691	EFO:0003967	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0003967	"A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." []	207272	\N	\N	EFO	1	EFO	sarcoma	vascular sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003967	"A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." []	560391	\N	\N	EFO	2	EFO	cancer	vascular sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003967	"A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." []	1142253	\N	\N	EFO	3	EFO	neoplasm	vascular sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003967	"A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." []	2025110	\N	\N	EFO	4	EFO	disease	vascular sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003967	"A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." []	3177908	\N	\N	EFO	5	EFO	disposition	vascular sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003967	"A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." []	4387988	\N	\N	EFO	6	EFO	material property	vascular sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003967	"A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." []	5408708	\N	\N	EFO	7	EFO	experimental factor	vascular sarcoma
EFO:0003968	\N	\N	"A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." []	EFO:0003968	"A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." []	66007	\N	\N	EFO	0	EFO	angiosarcoma	angiosarcoma
EFO:0003967	EFO:0003968	\N	"A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." []	EFO:0003968	"A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." []	207273	\N	\N	EFO	1	EFO	vascular sarcoma	angiosarcoma
EFO:0000691	EFO:0003967	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0003968	"A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." []	560392	\N	\N	EFO	2	EFO	sarcoma	angiosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0003968	"A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." []	1142254	\N	\N	EFO	3	EFO	cancer	angiosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0003968	"A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." []	2025111	\N	\N	EFO	4	EFO	neoplasm	angiosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0003968	"A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." []	3177909	\N	\N	EFO	5	EFO	disease	angiosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0003968	"A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." []	4387989	\N	\N	EFO	6	EFO	disposition	angiosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0003968	"A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." []	5408709	\N	\N	EFO	7	EFO	material property	angiosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003968	"A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." []	6147478	\N	\N	EFO	8	EFO	experimental factor	angiosarcoma
EFO:0003969	\N	\N	"A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome." []	EFO:0003969	"A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome." []	66008	\N	\N	EFO	0	EFO	treatment protocol	treatment protocol
OBI:0000272	EFO:0003969	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0003969	"A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome." []	207274	\N	\N	EFO	1	EFO	protocol	treatment protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0003969	"A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome." []	560393	\N	\N	EFO	2	EFO	information entity	treatment protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003969	"A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome." []	1142255	\N	\N	EFO	3	EFO	experimental factor	treatment protocol
EFO:0003970	\N	\N	"" []	EFO:0003970	"" []	66009	\N	\N	EFO	0	EFO	mouse erythroleukemia cell	mouse erythroleukemia cell
EFO:0000324	EFO:0003970	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0003970	"" []	207275	\N	\N	EFO	1	EFO	cell type	mouse erythroleukemia cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003970	"" []	560394	\N	\N	EFO	2	EFO	material entity	mouse erythroleukemia cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003970	"" []	1142256	\N	\N	EFO	3	EFO	experimental factor	mouse erythroleukemia cell
EFO:0003971	\N	\N	"" []	EFO:0003971	"" []	66010	\N	\N	EFO	0	EFO	MEL cell line	MEL cell line
EFO:0002887	EFO:0003971	\N	"Cell lines derived from mice." []	EFO:0003971	"" []	207276	\N	\N	EFO	1	EFO	mouse cell line	MEL cell line
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003971	"" []	560395	\N	\N	EFO	2	EFO	cell line	MEL cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003971	"" []	1142257	\N	\N	EFO	3	EFO	material entity	MEL cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003971	"" []	2025112	\N	\N	EFO	4	EFO	experimental factor	MEL cell line
EFO:0003972	\N	\N	"A mouse embryonic stem cell hybrid cell line" []	EFO:0003972	"A mouse embryonic stem cell hybrid cell line" []	66011	\N	\N	EFO	0	EFO	ESHyb	ESHyb
EFO:0002887	EFO:0003972	\N	"Cell lines derived from mice." []	EFO:0003972	"A mouse embryonic stem cell hybrid cell line" []	207277	\N	\N	EFO	1	EFO	mouse cell line	ESHyb
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0003972	"A mouse embryonic stem cell hybrid cell line" []	560396	\N	\N	EFO	2	EFO	cell line	ESHyb
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0003972	"A mouse embryonic stem cell hybrid cell line" []	1142258	\N	\N	EFO	3	EFO	material entity	ESHyb
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0003972	"A mouse embryonic stem cell hybrid cell line" []	2025113	\N	\N	EFO	4	EFO	experimental factor	ESHyb
EFO:0004000	\N	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0004000	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	66012	\N	\N	EFO	0	EFO	Mus musculus strain type	Mus musculus strain type
NCBITaxon:10090	\N	\N	"" []	EFO:0004000	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	194601	\N	\N	EFO	0	EFO	Mus musculus	Mus musculus strain type
EFO:0004001	\N	\N	"A mouse strain type whereby the strain is propagated by random mating within the stock. No genes are introduced from outside the stock from generation to generation." []	EFO:0004001	"A mouse strain type whereby the strain is propagated by random mating within the stock. No genes are introduced from outside the stock from generation to generation." []	66013	\N	\N	EFO	0	EFO	closed colony random bred strain	closed colony random bred strain
EFO:0004000	EFO:0004001	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0004001	"A mouse strain type whereby the strain is propagated by random mating within the stock. No genes are introduced from outside the stock from generation to generation." []	207278	\N	\N	EFO	1	EFO	Mus musculus strain type	closed colony random bred strain
EFO:0004002	\N	\N	"A coisogentic strain is a strain that differs from its progenitor inbred strain at only one locus. A coisogenic strain arises when a mutation occurs in an inbred strain." []	EFO:0004002	"A coisogentic strain is a strain that differs from its progenitor inbred strain at only one locus. A coisogenic strain arises when a mutation occurs in an inbred strain." []	66014	\N	\N	EFO	0	EFO	coisogenic strain	coisogenic strain
EFO:0004005	EFO:0004002	\N	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	EFO:0004002	"A coisogentic strain is a strain that differs from its progenitor inbred strain at only one locus. A coisogenic strain arises when a mutation occurs in an inbred strain." []	207279	\N	\N	EFO	1	EFO	inbred Mus musculus strain	coisogenic strain
EFO:0004000	EFO:0004005	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0004002	"A coisogentic strain is a strain that differs from its progenitor inbred strain at only one locus. A coisogenic strain arises when a mutation occurs in an inbred strain." []	560397	\N	\N	EFO	2	EFO	Mus musculus strain type	coisogenic strain
EFO:0004003	\N	\N	"A congenic strain is an  inbred strain that contains a small genetic region (ideally a single gene) from another strain, but which is otherwise identical to the original inbred strain. Congenic strains are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific locus from the donor strain. For example, CBACa.C3-KitW-x/J is an inbred strain of CBA/Ca background onto which the KitW-x allele from C3H/HeJ has been placed." []	EFO:0004003	"A congenic strain is an  inbred strain that contains a small genetic region (ideally a single gene) from another strain, but which is otherwise identical to the original inbred strain. Congenic strains are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific locus from the donor strain. For example, CBACa.C3-KitW-x/J is an inbred strain of CBA/Ca background onto which the KitW-x allele from C3H/HeJ has been placed." []	66015	\N	\N	EFO	0	EFO	congenic strain	congenic strain
EFO:0004005	EFO:0004003	\N	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	EFO:0004003	"A congenic strain is an  inbred strain that contains a small genetic region (ideally a single gene) from another strain, but which is otherwise identical to the original inbred strain. Congenic strains are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific locus from the donor strain. For example, CBACa.C3-KitW-x/J is an inbred strain of CBA/Ca background onto which the KitW-x allele from C3H/HeJ has been placed." []	207280	\N	\N	EFO	1	EFO	inbred Mus musculus strain	congenic strain
EFO:0004000	EFO:0004005	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0004003	"A congenic strain is an  inbred strain that contains a small genetic region (ideally a single gene) from another strain, but which is otherwise identical to the original inbred strain. Congenic strains are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific locus from the donor strain. For example, CBACa.C3-KitW-x/J is an inbred strain of CBA/Ca background onto which the KitW-x allele from C3H/HeJ has been placed." []	560398	\N	\N	EFO	2	EFO	Mus musculus strain type	congenic strain
EFO:0004004	\N	\N	"An inbred strain that contains a single entire chromosome from another strain. Consomic (or Chromosome Substitution Strains) are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific whole chromosome from the donor strain. For example, C57BL/6J-Chr 4A/NaJ is a consomic strain in which the Chromosome 4 from the A/J strain has been placed on a C57BL/6J background." []	EFO:0004004	"An inbred strain that contains a single entire chromosome from another strain. Consomic (or Chromosome Substitution Strains) are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific whole chromosome from the donor strain. For example, C57BL/6J-Chr 4A/NaJ is a consomic strain in which the Chromosome 4 from the A/J strain has been placed on a C57BL/6J background." []	66016	\N	\N	EFO	0	EFO	consomic strain	consomic strain
EFO:0004005	EFO:0004004	\N	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	EFO:0004004	"An inbred strain that contains a single entire chromosome from another strain. Consomic (or Chromosome Substitution Strains) are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific whole chromosome from the donor strain. For example, C57BL/6J-Chr 4A/NaJ is a consomic strain in which the Chromosome 4 from the A/J strain has been placed on a C57BL/6J background." []	207281	\N	\N	EFO	1	EFO	inbred Mus musculus strain	consomic strain
EFO:0004000	EFO:0004005	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0004004	"An inbred strain that contains a single entire chromosome from another strain. Consomic (or Chromosome Substitution Strains) are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific whole chromosome from the donor strain. For example, C57BL/6J-Chr 4A/NaJ is a consomic strain in which the Chromosome 4 from the A/J strain has been placed on a C57BL/6J background." []	560399	\N	\N	EFO	2	EFO	Mus musculus strain type	consomic strain
EFO:0004005	\N	\N	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	EFO:0004005	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	66017	\N	\N	EFO	0	EFO	inbred Mus musculus strain	inbred Mus musculus strain
EFO:0004000	EFO:0004005	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0004005	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	207282	\N	\N	EFO	1	EFO	Mus musculus strain type	inbred Mus musculus strain
EFO:0004006	\N	\N	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	EFO:0004006	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	66018	\N	\N	EFO	0	EFO	mutant strain	mutant strain
EFO:0004005	EFO:0004006	\N	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	EFO:0004006	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	207283	\N	\N	EFO	1	EFO	inbred Mus musculus strain	mutant strain
EFO:0004000	EFO:0004005	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0004006	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	560400	\N	\N	EFO	2	EFO	Mus musculus strain type	mutant strain
EFO:0004007	\N	\N	"Strains formed by crossing two inbred strains, followed by a few backcrosses to one of the parental strains, with subsequent inbreeding without selection." []	EFO:0004007	"Strains formed by crossing two inbred strains, followed by a few backcrosses to one of the parental strains, with subsequent inbreeding without selection." []	66019	\N	\N	EFO	0	EFO	recombinant congenic strain	recombinant congenic strain
EFO:0004003	EFO:0004007	\N	"A congenic strain is an  inbred strain that contains a small genetic region (ideally a single gene) from another strain, but which is otherwise identical to the original inbred strain. Congenic strains are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific locus from the donor strain. For example, CBACa.C3-KitW-x/J is an inbred strain of CBA/Ca background onto which the KitW-x allele from C3H/HeJ has been placed." []	EFO:0004007	"Strains formed by crossing two inbred strains, followed by a few backcrosses to one of the parental strains, with subsequent inbreeding without selection." []	207284	\N	\N	EFO	1	EFO	congenic strain	recombinant congenic strain
EFO:0004005	EFO:0004003	\N	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	EFO:0004007	"Strains formed by crossing two inbred strains, followed by a few backcrosses to one of the parental strains, with subsequent inbreeding without selection." []	560401	\N	\N	EFO	2	EFO	inbred Mus musculus strain	recombinant congenic strain
EFO:0004000	EFO:0004005	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0004007	"Strains formed by crossing two inbred strains, followed by a few backcrosses to one of the parental strains, with subsequent inbreeding without selection." []	1142259	\N	\N	EFO	3	EFO	Mus musculus strain type	recombinant congenic strain
EFO:0004008	\N	\N	"An Inbred strain created by crossing two different inbred strains, followed by brother x sister matings for at least 20 generations. A panel of recombinant inbred strains derived from a cross between the same original parental strains can be used to establish linkage between any marker that is polymorphic between the parental strains and other polymorphic markers that have been typed in each strain in the panel." []	EFO:0004008	"An Inbred strain created by crossing two different inbred strains, followed by brother x sister matings for at least 20 generations. A panel of recombinant inbred strains derived from a cross between the same original parental strains can be used to establish linkage between any marker that is polymorphic between the parental strains and other polymorphic markers that have been typed in each strain in the panel." []	66020	\N	\N	EFO	0	EFO	recombinant inbred strain	recombinant inbred strain
EFO:0004005	EFO:0004008	\N	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	EFO:0004008	"An Inbred strain created by crossing two different inbred strains, followed by brother x sister matings for at least 20 generations. A panel of recombinant inbred strains derived from a cross between the same original parental strains can be used to establish linkage between any marker that is polymorphic between the parental strains and other polymorphic markers that have been typed in each strain in the panel." []	207285	\N	\N	EFO	1	EFO	inbred Mus musculus strain	recombinant inbred strain
EFO:0004000	EFO:0004005	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0004008	"An Inbred strain created by crossing two different inbred strains, followed by brother x sister matings for at least 20 generations. A panel of recombinant inbred strains derived from a cross between the same original parental strains can be used to establish linkage between any marker that is polymorphic between the parental strains and other polymorphic markers that have been typed in each strain in the panel." []	560402	\N	\N	EFO	2	EFO	Mus musculus strain type	recombinant inbred strain
EFO:0004009	\N	\N	"An inbred strain that is kept in forced heterozygosity for one or more loci. For example, the SM/J strain segregates for an agouti allele and animals are either Aw/a (white bellied agouti) or a/a (black) in color." []	EFO:0004009	"An inbred strain that is kept in forced heterozygosity for one or more loci. For example, the SM/J strain segregates for an agouti allele and animals are either Aw/a (white bellied agouti) or a/a (black) in color." []	66021	\N	\N	EFO	0	EFO	segregating inbred strain	segregating inbred strain
EFO:0004005	EFO:0004009	\N	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	EFO:0004009	"An inbred strain that is kept in forced heterozygosity for one or more loci. For example, the SM/J strain segregates for an agouti allele and animals are either Aw/a (white bellied agouti) or a/a (black) in color." []	207286	\N	\N	EFO	1	EFO	inbred Mus musculus strain	segregating inbred strain
EFO:0004000	EFO:0004005	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0004009	"An inbred strain that is kept in forced heterozygosity for one or more loci. For example, the SM/J strain segregates for an agouti allele and animals are either Aw/a (white bellied agouti) or a/a (black) in color." []	560403	\N	\N	EFO	2	EFO	Mus musculus strain type	segregating inbred strain
EFO:0004010	\N	\N	"Strains formed by brother x sister matings or other inbreeding schemes from mice originally caught in the wild." []	EFO:0004010	"Strains formed by brother x sister matings or other inbreeding schemes from mice originally caught in the wild." []	66022	\N	\N	EFO	0	EFO	wild-derived inbred strain	wild-derived inbred strain
EFO:0004005	EFO:0004010	\N	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	EFO:0004010	"Strains formed by brother x sister matings or other inbreeding schemes from mice originally caught in the wild." []	207287	\N	\N	EFO	1	EFO	inbred Mus musculus strain	wild-derived inbred strain
EFO:0004000	EFO:0004005	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0004010	"Strains formed by brother x sister matings or other inbreeding schemes from mice originally caught in the wild." []	560404	\N	\N	EFO	2	EFO	Mus musculus strain type	wild-derived inbred strain
EFO:0004011	\N	\N	"A congenic strain in which the donor allele transferred to the host strain background is a major histocompatibility gene." []	EFO:0004011	"A congenic strain in which the donor allele transferred to the host strain background is a major histocompatibility gene." []	66023	\N	\N	EFO	0	EFO	major histocompatibility congenic strain	major histocompatibility congenic strain
EFO:0004003	EFO:0004011	\N	"A congenic strain is an  inbred strain that contains a small genetic region (ideally a single gene) from another strain, but which is otherwise identical to the original inbred strain. Congenic strains are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific locus from the donor strain. For example, CBACa.C3-KitW-x/J is an inbred strain of CBA/Ca background onto which the KitW-x allele from C3H/HeJ has been placed." []	EFO:0004011	"A congenic strain in which the donor allele transferred to the host strain background is a major histocompatibility gene." []	207288	\N	\N	EFO	1	EFO	congenic strain	major histocompatibility congenic strain
EFO:0004005	EFO:0004003	\N	"An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation." []	EFO:0004011	"A congenic strain in which the donor allele transferred to the host strain background is a major histocompatibility gene." []	560405	\N	\N	EFO	2	EFO	inbred Mus musculus strain	major histocompatibility congenic strain
EFO:0004000	EFO:0004005	\N	"A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain" []	EFO:0004011	"A congenic strain in which the donor allele transferred to the host strain background is a major histocompatibility gene." []	1142260	\N	\N	EFO	3	EFO	Mus musculus strain type	major histocompatibility congenic strain
EFO:0004012	\N	\N	"" []	EFO:0004012	"" []	66024	\N	\N	EFO	0	EFO	mating type F	mating type F
EFO:0001268	EFO:0004012	\N	"A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo." []	EFO:0004012	"" []	207289	\N	\N	EFO	1	EFO	mating type	mating type F
BFO:0000019	EFO:0001268	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004012	"" []	560406	\N	\N	EFO	2	EFO	quality	mating type F
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004012	"" []	1142261	\N	\N	EFO	3	EFO	material property	mating type F
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004012	"" []	2025114	\N	\N	EFO	4	EFO	experimental factor	mating type F
EFO:0004013	\N	\N	"A reciprocal translocation in which no genetic material is gained or lost in the resulting fusion chromosomes" []	EFO:0004013	"A reciprocal translocation in which no genetic material is gained or lost in the resulting fusion chromosomes" []	66025	\N	\N	EFO	0	EFO	balanced reciprocal translocation	balanced reciprocal translocation
EFO:0004024	EFO:0004013	\N	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" []	EFO:0004013	"A reciprocal translocation in which no genetic material is gained or lost in the resulting fusion chromosomes" []	207290	\N	\N	EFO	1	EFO	translocation	balanced reciprocal translocation
EFO:0000336	EFO:0004024	\N	"An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." []	EFO:0004013	"A reciprocal translocation in which no genetic material is gained or lost in the resulting fusion chromosomes" []	560407	\N	\N	EFO	2	EFO	chromosomal aberration	balanced reciprocal translocation
EFO:0000510	EFO:0000336	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004013	"A reciprocal translocation in which no genetic material is gained or lost in the resulting fusion chromosomes" []	1142262	\N	\N	EFO	3	EFO	genetic modification	balanced reciprocal translocation
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004013	"A reciprocal translocation in which no genetic material is gained or lost in the resulting fusion chromosomes" []	2025115	\N	\N	EFO	4	EFO	experimental process	balanced reciprocal translocation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004013	"A reciprocal translocation in which no genetic material is gained or lost in the resulting fusion chromosomes" []	3177910	\N	\N	EFO	5	EFO	planned process	balanced reciprocal translocation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004013	"A reciprocal translocation in which no genetic material is gained or lost in the resulting fusion chromosomes" []	4387990	\N	\N	EFO	6	EFO	process	balanced reciprocal translocation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004013	"A reciprocal translocation in which no genetic material is gained or lost in the resulting fusion chromosomes" []	5408710	\N	\N	EFO	7	EFO	experimental factor	balanced reciprocal translocation
EFO:0004014	\N	\N	"" []	EFO:0004014	"" []	66026	\N	\N	EFO	0	EFO	deletion	deletion
EFO:0000510	EFO:0004014	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004014	"" []	207291	\N	\N	EFO	1	EFO	genetic modification	deletion
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004014	"" []	560408	\N	\N	EFO	2	EFO	experimental process	deletion
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004014	"" []	1142263	\N	\N	EFO	3	EFO	planned process	deletion
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004014	"" []	2025116	\N	\N	EFO	4	EFO	process	deletion
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004014	"" []	3177911	\N	\N	EFO	5	EFO	experimental factor	deletion
EFO:0004015	\N	\N	"A genetic modification in which part of the genome is duplicated" []	EFO:0004015	"A genetic modification in which part of the genome is duplicated" []	66027	\N	\N	EFO	0	EFO	duplication	duplication
EFO:0000510	EFO:0004015	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004015	"A genetic modification in which part of the genome is duplicated" []	207292	\N	\N	EFO	1	EFO	genetic modification	duplication
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004015	"A genetic modification in which part of the genome is duplicated" []	560409	\N	\N	EFO	2	EFO	experimental process	duplication
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004015	"A genetic modification in which part of the genome is duplicated" []	1142264	\N	\N	EFO	3	EFO	planned process	duplication
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004015	"A genetic modification in which part of the genome is duplicated" []	2025117	\N	\N	EFO	4	EFO	process	duplication
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004015	"A genetic modification in which part of the genome is duplicated" []	3177912	\N	\N	EFO	5	EFO	experimental factor	duplication
EFO:0004016	\N	\N	"" []	EFO:0004016	"" []	66028	\N	\N	EFO	0	EFO	insertion	insertion
EFO:0000510	EFO:0004016	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004016	"" []	207293	\N	\N	EFO	1	EFO	genetic modification	insertion
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004016	"" []	560410	\N	\N	EFO	2	EFO	experimental process	insertion
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004016	"" []	1142265	\N	\N	EFO	3	EFO	planned process	insertion
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004016	"" []	2025118	\N	\N	EFO	4	EFO	process	insertion
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004016	"" []	3177913	\N	\N	EFO	5	EFO	experimental factor	insertion
EFO:0004017	\N	\N	"" []	EFO:0004017	"" []	66029	\N	\N	EFO	0	EFO	inversion	inversion
EFO:0000510	EFO:0004017	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004017	"" []	207294	\N	\N	EFO	1	EFO	genetic modification	inversion
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004017	"" []	560411	\N	\N	EFO	2	EFO	experimental process	inversion
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004017	"" []	1142266	\N	\N	EFO	3	EFO	planned process	inversion
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004017	"" []	2025119	\N	\N	EFO	4	EFO	process	inversion
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004017	"" []	3177914	\N	\N	EFO	5	EFO	experimental factor	inversion
EFO:0004018	\N	\N	"A genetic modification which has arisn by a spontaneous mutation in an individual" []	EFO:0004018	"A genetic modification which has arisn by a spontaneous mutation in an individual" []	66030	\N	\N	EFO	0	EFO	spontaneous mutation	spontaneous mutation
EFO:0000510	EFO:0004018	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004018	"A genetic modification which has arisn by a spontaneous mutation in an individual" []	207295	\N	\N	EFO	1	EFO	genetic modification	spontaneous mutation
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004018	"A genetic modification which has arisn by a spontaneous mutation in an individual" []	560412	\N	\N	EFO	2	EFO	experimental process	spontaneous mutation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004018	"A genetic modification which has arisn by a spontaneous mutation in an individual" []	1142267	\N	\N	EFO	3	EFO	planned process	spontaneous mutation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004018	"A genetic modification which has arisn by a spontaneous mutation in an individual" []	2025120	\N	\N	EFO	4	EFO	process	spontaneous mutation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004018	"A genetic modification which has arisn by a spontaneous mutation in an individual" []	3177915	\N	\N	EFO	5	EFO	experimental factor	spontaneous mutation
EFO:0004019	\N	\N	"A genetic modification in which a targeted mutation has been introduced into the genome of an individual" []	EFO:0004019	"A genetic modification in which a targeted mutation has been introduced into the genome of an individual" []	66031	\N	\N	EFO	0	EFO	targeted mutation	targeted mutation
EFO:0000510	EFO:0004019	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004019	"A genetic modification in which a targeted mutation has been introduced into the genome of an individual" []	207296	\N	\N	EFO	1	EFO	genetic modification	targeted mutation
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004019	"A genetic modification in which a targeted mutation has been introduced into the genome of an individual" []	560413	\N	\N	EFO	2	EFO	experimental process	targeted mutation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004019	"A genetic modification in which a targeted mutation has been introduced into the genome of an individual" []	1142268	\N	\N	EFO	3	EFO	planned process	targeted mutation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004019	"A genetic modification in which a targeted mutation has been introduced into the genome of an individual" []	2025121	\N	\N	EFO	4	EFO	process	targeted mutation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004019	"A genetic modification in which a targeted mutation has been introduced into the genome of an individual" []	3177916	\N	\N	EFO	5	EFO	experimental factor	targeted mutation
EFO:0004020	\N	\N	"A genetic modification in which a transgene has been inserted into an individual" []	EFO:0004020	"A genetic modification in which a transgene has been inserted into an individual" []	66032	\N	\N	EFO	0	EFO	transgenic	transgenic
EFO:0000510	EFO:0004020	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004020	"A genetic modification in which a transgene has been inserted into an individual" []	207297	\N	\N	EFO	1	EFO	genetic modification	transgenic
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004020	"A genetic modification in which a transgene has been inserted into an individual" []	560414	\N	\N	EFO	2	EFO	experimental process	transgenic
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004020	"A genetic modification in which a transgene has been inserted into an individual" []	1142269	\N	\N	EFO	3	EFO	planned process	transgenic
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004020	"A genetic modification in which a transgene has been inserted into an individual" []	2025122	\N	\N	EFO	4	EFO	process	transgenic
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004020	"A genetic modification in which a transgene has been inserted into an individual" []	3177917	\N	\N	EFO	5	EFO	experimental factor	transgenic
EFO:0004021	\N	\N	"A genetic modification introduced into an individual as the result of transposase activity" []	EFO:0004021	"A genetic modification introduced into an individual as the result of transposase activity" []	66033	\N	\N	EFO	0	EFO	transposition	transposition
EFO:0000510	EFO:0004021	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004021	"A genetic modification introduced into an individual as the result of transposase activity" []	207298	\N	\N	EFO	1	EFO	genetic modification	transposition
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004021	"A genetic modification introduced into an individual as the result of transposase activity" []	560415	\N	\N	EFO	2	EFO	experimental process	transposition
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004021	"A genetic modification introduced into an individual as the result of transposase activity" []	1142270	\N	\N	EFO	3	EFO	planned process	transposition
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004021	"A genetic modification introduced into an individual as the result of transposase activity" []	2025123	\N	\N	EFO	4	EFO	process	transposition
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004021	"A genetic modification introduced into an individual as the result of transposase activity" []	3177918	\N	\N	EFO	5	EFO	experimental factor	transposition
EFO:0004022	\N	\N	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired in such a way that the resulting chromosomes each contain material from the other chromosome (a reciprocal translocation)." []	EFO:0004022	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired in such a way that the resulting chromosomes each contain material from the other chromosome (a reciprocal translocation)." []	66034	\N	\N	EFO	0	EFO	reciprocal translocation	reciprocal translocation
EFO:0004024	EFO:0004022	\N	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" []	EFO:0004022	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired in such a way that the resulting chromosomes each contain material from the other chromosome (a reciprocal translocation)." []	207299	\N	\N	EFO	1	EFO	translocation	reciprocal translocation
EFO:0000336	EFO:0004024	\N	"An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." []	EFO:0004022	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired in such a way that the resulting chromosomes each contain material from the other chromosome (a reciprocal translocation)." []	560416	\N	\N	EFO	2	EFO	chromosomal aberration	reciprocal translocation
EFO:0000510	EFO:0000336	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004022	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired in such a way that the resulting chromosomes each contain material from the other chromosome (a reciprocal translocation)." []	1142271	\N	\N	EFO	3	EFO	genetic modification	reciprocal translocation
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004022	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired in such a way that the resulting chromosomes each contain material from the other chromosome (a reciprocal translocation)." []	2025124	\N	\N	EFO	4	EFO	experimental process	reciprocal translocation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004022	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired in such a way that the resulting chromosomes each contain material from the other chromosome (a reciprocal translocation)." []	3177919	\N	\N	EFO	5	EFO	planned process	reciprocal translocation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004022	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired in such a way that the resulting chromosomes each contain material from the other chromosome (a reciprocal translocation)." []	4387991	\N	\N	EFO	6	EFO	process	reciprocal translocation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004022	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired in such a way that the resulting chromosomes each contain material from the other chromosome (a reciprocal translocation)." []	5408711	\N	\N	EFO	7	EFO	experimental factor	reciprocal translocation
EFO:0004023	\N	\N	"A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also" []	EFO:0004023	"A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also" []	66035	\N	\N	EFO	0	EFO	Roberstonian translocation	Roberstonian translocation
EFO:0004024	EFO:0004023	\N	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" []	EFO:0004023	"A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also" []	207300	\N	\N	EFO	1	EFO	translocation	Roberstonian translocation
EFO:0000336	EFO:0004024	\N	"An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." []	EFO:0004023	"A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also" []	560417	\N	\N	EFO	2	EFO	chromosomal aberration	Roberstonian translocation
EFO:0000510	EFO:0000336	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004023	"A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also" []	1142272	\N	\N	EFO	3	EFO	genetic modification	Roberstonian translocation
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004023	"A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also" []	2025125	\N	\N	EFO	4	EFO	experimental process	Roberstonian translocation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004023	"A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also" []	3177920	\N	\N	EFO	5	EFO	planned process	Roberstonian translocation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004023	"A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also" []	4387992	\N	\N	EFO	6	EFO	process	Roberstonian translocation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004023	"A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also" []	5408712	\N	\N	EFO	7	EFO	experimental factor	Roberstonian translocation
EFO:0004024	\N	\N	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" []	EFO:0004024	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" []	66036	\N	\N	EFO	0	EFO	translocation	translocation
EFO:0000336	EFO:0004024	\N	"An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material." []	EFO:0004024	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" []	207301	\N	\N	EFO	1	EFO	chromosomal aberration	translocation
EFO:0000510	EFO:0000336	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004024	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" []	560418	\N	\N	EFO	2	EFO	genetic modification	translocation
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004024	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" []	1142273	\N	\N	EFO	3	EFO	experimental process	translocation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004024	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" []	2025126	\N	\N	EFO	4	EFO	planned process	translocation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004024	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" []	3177921	\N	\N	EFO	5	EFO	process	translocation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004024	"A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired" []	4387993	\N	\N	EFO	6	EFO	experimental factor	translocation
EFO:0004025	\N	\N	"C. elegans Daf-d, weak heterochronic phenotypes in seam, somatic gonad, intestine. Class III allele." []	EFO:0004025	"C. elegans Daf-d, weak heterochronic phenotypes in seam, somatic gonad, intestine. Class III allele." []	66037	\N	\N	EFO	0	EFO	AA86	AA86
NCBITaxon:6239	\N	\N	"" []	EFO:0004025	"C. elegans Daf-d, weak heterochronic phenotypes in seam, somatic gonad, intestine. Class III allele." []	194602	\N	\N	EFO	0	EFO	Caenorhabditis elegans	AA86
EFO:0004026	\N	\N	"C. elegans Daf-c, gonadal Mig, weak heterochronic phenotypes in intestine and seam. Class VI allele." []	EFO:0004026	"C. elegans Daf-c, gonadal Mig, weak heterochronic phenotypes in intestine and seam. Class VI allele." []	66038	\N	\N	EFO	0	EFO	AA87	AA87
NCBITaxon:6239	\N	\N	"" []	EFO:0004026	"C. elegans Daf-c, gonadal Mig, weak heterochronic phenotypes in intestine and seam. Class VI allele." []	194603	\N	\N	EFO	0	EFO	Caenorhabditis elegans	AA87
EFO:0004027	\N	\N	"C. elegans daf-c. Gonald Mig. Weak heterochronic phenotypes in intestine. Class VI allele." []	EFO:0004027	"C. elegans daf-c. Gonald Mig. Weak heterochronic phenotypes in intestine. Class VI allele." []	66039	\N	\N	EFO	0	EFO	AA89	AA89
NCBITaxon:6239	\N	\N	"" []	EFO:0004027	"C. elegans daf-c. Gonald Mig. Weak heterochronic phenotypes in intestine. Class VI allele." []	194604	\N	\N	EFO	0	EFO	Caenorhabditis elegans	AA89
EFO:0004028	\N	\N	"C. elegans wild isolate var Bristol. Generation time is about 3 days. Brood size is about 350. Also CGC reference 257. Isolated from mushroom compost near Bristol, England by L.N. Staniland. Cultured by W.L. Nicholas, identified to genus by Gunther Osche and species by Victor Nigon; subsequently cultured by C.E. Dougherty. Given to Sydney Brenner ca. 1966. Subcultured by Don Riddle in 1973. Caenorhabditis elegans wild isolate. DR subclone of CB original (Tc1 pattern I)." []	EFO:0004028	"C. elegans wild isolate var Bristol. Generation time is about 3 days. Brood size is about 350. Also CGC reference 257. Isolated from mushroom compost near Bristol, England by L.N. Staniland. Cultured by W.L. Nicholas, identified to genus by Gunther Osche and species by Victor Nigon; subsequently cultured by C.E. Dougherty. Given to Sydney Brenner ca. 1966. Subcultured by Don Riddle in 1973. Caenorhabditis elegans wild isolate. DR subclone of CB original (Tc1 pattern I)." []	66040	\N	\N	EFO	0	EFO	N2	N2
NCBITaxon:6239	\N	\N	"" []	EFO:0004028	"C. elegans wild isolate var Bristol. Generation time is about 3 days. Brood size is about 350. Also CGC reference 257. Isolated from mushroom compost near Bristol, England by L.N. Staniland. Cultured by W.L. Nicholas, identified to genus by Gunther Osche and species by Victor Nigon; subsequently cultured by C.E. Dougherty. Given to Sydney Brenner ca. 1966. Subcultured by Don Riddle in 1973. Caenorhabditis elegans wild isolate. DR subclone of CB original (Tc1 pattern I)." []	194605	\N	\N	EFO	0	EFO	Caenorhabditis elegans	N2
EFO:0004029	\N	\N	"Drosophila simulans isofemale line; siI haplotype; originally collected from Honolulu, Hawaii in 1998" []	EFO:0004029	"Drosophila simulans isofemale line; siI haplotype; originally collected from Honolulu, Hawaii in 1998" []	66041	\N	\N	EFO	0	EFO	Drosophila simulans HW09	Drosophila simulans HW09
NCBITaxon:7240	\N	\N	"" []	EFO:0004029	"Drosophila simulans isofemale line; siI haplotype; originally collected from Honolulu, Hawaii in 1998" []	194606	\N	\N	EFO	0	EFO	Drosophila simulans	Drosophila simulans HW09
EFO:0004030	\N	\N	"A genetic modification induced by insertion of a nucleic acid construct containing a reporter gene sequence downstream of a splice acceptor site that is capable of integrating into random chromosomal locations Integration of the gene trap into an intron allows the expression of a new mRNA containing one or more upstream exons followed by the reporter gene. The reporter gene is therefore expressed in the same cells and developmental stages as the gene into which the gene trap has inserted." []	EFO:0004030	"A genetic modification induced by insertion of a nucleic acid construct containing a reporter gene sequence downstream of a splice acceptor site that is capable of integrating into random chromosomal locations Integration of the gene trap into an intron allows the expression of a new mRNA containing one or more upstream exons followed by the reporter gene. The reporter gene is therefore expressed in the same cells and developmental stages as the gene into which the gene trap has inserted." []	66042	\N	\N	EFO	0	EFO	gene trap	gene trap
EFO:0000510	EFO:0004030	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004030	"A genetic modification induced by insertion of a nucleic acid construct containing a reporter gene sequence downstream of a splice acceptor site that is capable of integrating into random chromosomal locations Integration of the gene trap into an intron allows the expression of a new mRNA containing one or more upstream exons followed by the reporter gene. The reporter gene is therefore expressed in the same cells and developmental stages as the gene into which the gene trap has inserted." []	207302	\N	\N	EFO	1	EFO	genetic modification	gene trap
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004030	"A genetic modification induced by insertion of a nucleic acid construct containing a reporter gene sequence downstream of a splice acceptor site that is capable of integrating into random chromosomal locations Integration of the gene trap into an intron allows the expression of a new mRNA containing one or more upstream exons followed by the reporter gene. The reporter gene is therefore expressed in the same cells and developmental stages as the gene into which the gene trap has inserted." []	560419	\N	\N	EFO	2	EFO	experimental process	gene trap
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004030	"A genetic modification induced by insertion of a nucleic acid construct containing a reporter gene sequence downstream of a splice acceptor site that is capable of integrating into random chromosomal locations Integration of the gene trap into an intron allows the expression of a new mRNA containing one or more upstream exons followed by the reporter gene. The reporter gene is therefore expressed in the same cells and developmental stages as the gene into which the gene trap has inserted." []	1142274	\N	\N	EFO	3	EFO	planned process	gene trap
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004030	"A genetic modification induced by insertion of a nucleic acid construct containing a reporter gene sequence downstream of a splice acceptor site that is capable of integrating into random chromosomal locations Integration of the gene trap into an intron allows the expression of a new mRNA containing one or more upstream exons followed by the reporter gene. The reporter gene is therefore expressed in the same cells and developmental stages as the gene into which the gene trap has inserted." []	2025127	\N	\N	EFO	4	EFO	process	gene trap
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004030	"A genetic modification induced by insertion of a nucleic acid construct containing a reporter gene sequence downstream of a splice acceptor site that is capable of integrating into random chromosomal locations Integration of the gene trap into an intron allows the expression of a new mRNA containing one or more upstream exons followed by the reporter gene. The reporter gene is therefore expressed in the same cells and developmental stages as the gene into which the gene trap has inserted." []	3177922	\N	\N	EFO	5	EFO	experimental factor	gene trap
EFO:0004031	\N	\N	"Crosophila simulans isofemale line; siI haplotype; originally collected from Noumea, New Caledonia in 1991" []	EFO:0004031	"Crosophila simulans isofemale line; siI haplotype; originally collected from Noumea, New Caledonia in 1991" []	66043	\N	\N	EFO	0	EFO	Drosophila simulans NC48	Drosophila simulans NC48
NCBITaxon:7240	\N	\N	"" []	EFO:0004031	"Crosophila simulans isofemale line; siI haplotype; originally collected from Noumea, New Caledonia in 1991" []	194607	\N	\N	EFO	0	EFO	Drosophila simulans	Drosophila simulans NC48
EFO:0004032	\N	\N	"Drosophila simulans isofemale line, siII haplotype; originally collected from Ansirabe, Madagascar in 1998" []	EFO:0004032	"Drosophila simulans isofemale line, siII haplotype; originally collected from Ansirabe, Madagascar in 1998" []	66044	\N	\N	EFO	0	EFO	Drosophile simulans MD106	Drosophile simulans MD106
NCBITaxon:7240	\N	\N	"" []	EFO:0004032	"Drosophila simulans isofemale line, siII haplotype; originally collected from Ansirabe, Madagascar in 1998" []	194608	\N	\N	EFO	0	EFO	Drosophila simulans	Drosophile simulans MD106
EFO:0004033	\N	\N	"" []	EFO:0004033	"" []	66045	\N	\N	EFO	0	EFO	experiment accession	experiment accession
IAO:0000030	EFO:0004033	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004033	"" []	207303	\N	\N	EFO	1	EFO	information entity	experiment accession
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004033	"" []	560420	\N	\N	EFO	2	EFO	experimental factor	experiment accession
EFO:0004034	\N	\N	"" []	EFO:0004034	"" []	66046	\N	\N	EFO	0	EFO	discretized differential expression	discretized differential expression
IAO:0000030	EFO:0004034	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004034	"" []	207304	\N	\N	EFO	1	EFO	information entity	discretized differential expression
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004034	"" []	560421	\N	\N	EFO	2	EFO	experimental factor	discretized differential expression
EFO:0004035	\N	\N	"" []	EFO:0004035	"" []	66047	\N	\N	EFO	0	EFO	mating type F minus	mating type F minus
EFO:0001268	EFO:0004035	\N	"A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo." []	EFO:0004035	"" []	207305	\N	\N	EFO	1	EFO	mating type	mating type F minus
BFO:0000019	EFO:0001268	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004035	"" []	560422	\N	\N	EFO	2	EFO	quality	mating type F minus
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004035	"" []	1142275	\N	\N	EFO	3	EFO	material property	mating type F minus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004035	"" []	2025128	\N	\N	EFO	4	EFO	experimental factor	mating type F minus
EFO:0004036	\N	\N	"" []	EFO:0004036	"" []	66048	\N	\N	EFO	0	EFO	mating type h plus	mating type h plus
EFO:0001268	EFO:0004036	\N	"A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo." []	EFO:0004036	"" []	207306	\N	\N	EFO	1	EFO	mating type	mating type h plus
BFO:0000019	EFO:0001268	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004036	"" []	560423	\N	\N	EFO	2	EFO	quality	mating type h plus
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004036	"" []	1142276	\N	\N	EFO	3	EFO	material property	mating type h plus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004036	"" []	2025129	\N	\N	EFO	4	EFO	experimental factor	mating type h plus
EFO:0004037	\N	\N	"Mouse embryonic fibroblast cell line" []	EFO:0004037	"Mouse embryonic fibroblast cell line" []	66049	\N	\N	EFO	0	EFO	MEF cell line	MEF cell line
EFO:0002009	EFO:0004037	\N	"" []	EFO:0004037	"Mouse embryonic fibroblast cell line" []	207307	\N	\N	EFO	1	EFO	fibroblast derived cell line	MEF cell line
EFO:0002887	EFO:0004037	\N	"Cell lines derived from mice." []	EFO:0004037	"Mouse embryonic fibroblast cell line" []	207308	\N	\N	EFO	1	EFO	mouse cell line	MEF cell line
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0004037	"Mouse embryonic fibroblast cell line" []	560424	\N	\N	EFO	2	EFO	cell line	MEF cell line
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0004037	"Mouse embryonic fibroblast cell line" []	560425	\N	\N	EFO	2	EFO	cell line	MEF cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004037	"Mouse embryonic fibroblast cell line" []	1142277	\N	\N	EFO	3	EFO	material entity	MEF cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004037	"Mouse embryonic fibroblast cell line" []	2025130	\N	\N	EFO	4	EFO	experimental factor	MEF cell line
EFO:0004038	\N	\N	"mouse embryonic stem cell" []	EFO:0004038	"mouse embryonic stem cell" []	66050	\N	\N	EFO	0	EFO	mouse embryonic stem cell	mouse embryonic stem cell
CL:0002321	EFO:0004038	\N	"A cell of the embryo." []	EFO:0004038	"mouse embryonic stem cell" []	207309	\N	\N	EFO	1	EFO	embryonic cell	mouse embryonic stem cell
EFO:0000324	CL:0002321	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0004038	"mouse embryonic stem cell" []	560426	\N	\N	EFO	2	EFO	cell type	mouse embryonic stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004038	"mouse embryonic stem cell" []	1142278	\N	\N	EFO	3	EFO	material entity	mouse embryonic stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004038	"mouse embryonic stem cell" []	2025131	\N	\N	EFO	4	EFO	experimental factor	mouse embryonic stem cell
EFO:0004039	\N	\N	"" []	EFO:0004039	"" []	66051	\N	\N	EFO	0	EFO	mouse neural progenitor cell	mouse neural progenitor cell
EFO:0000324	EFO:0004039	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0004039	"" []	207310	\N	\N	EFO	1	EFO	cell type	mouse neural progenitor cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004039	"" []	560427	\N	\N	EFO	2	EFO	material entity	mouse neural progenitor cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004039	"" []	1142279	\N	\N	EFO	3	EFO	experimental factor	mouse neural progenitor cell
EFO:0004040	\N	\N	"Mouse embryonic fibroblast cell" []	EFO:0004040	"Mouse embryonic fibroblast cell" []	66052	\N	\N	EFO	0	EFO	mouse embryonic fibroblast cell	mouse embryonic fibroblast cell
CL:0000057	EFO:0004040	\N	"A large, flat, oval cell found in connective tissue and responsible for the formation of fibers." []	EFO:0004040	"Mouse embryonic fibroblast cell" []	207311	\N	\N	EFO	1	EFO	fibroblast	mouse embryonic fibroblast cell
EFO:0000324	CL:0000057	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0004040	"Mouse embryonic fibroblast cell" []	560428	\N	\N	EFO	2	EFO	cell type	mouse embryonic fibroblast cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004040	"Mouse embryonic fibroblast cell" []	1142280	\N	\N	EFO	3	EFO	material entity	mouse embryonic fibroblast cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004040	"Mouse embryonic fibroblast cell" []	2025132	\N	\N	EFO	4	EFO	experimental factor	mouse embryonic fibroblast cell
EFO:0004041	\N	\N	"Mouse Neural Progenitor cell line" []	EFO:0004041	"Mouse Neural Progenitor cell line" []	66053	\N	\N	EFO	0	EFO	NPC	NPC
EFO:0002887	EFO:0004041	\N	"Cell lines derived from mice." []	EFO:0004041	"Mouse Neural Progenitor cell line" []	207312	\N	\N	EFO	1	EFO	mouse cell line	NPC
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0004041	"Mouse Neural Progenitor cell line" []	560429	\N	\N	EFO	2	EFO	cell line	NPC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004041	"Mouse Neural Progenitor cell line" []	1142281	\N	\N	EFO	3	EFO	material entity	NPC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004041	"Mouse Neural Progenitor cell line" []	2025133	\N	\N	EFO	4	EFO	experimental factor	NPC
EFO:0004042	\N	\N	"Strain of C. elegans described with phenotypes such as; increased social feeding, foraging behavior variant, carbon dioxide response variant, bordering" []	EFO:0004042	"Strain of C. elegans described with phenotypes such as; increased social feeding, foraging behavior variant, carbon dioxide response variant, bordering" []	66054	\N	\N	EFO	0	EFO	AB1	AB1
NCBITaxon:6239	\N	\N	"" []	EFO:0004042	"Strain of C. elegans described with phenotypes such as; increased social feeding, foraging behavior variant, carbon dioxide response variant, bordering" []	194609	\N	\N	EFO	0	EFO	Caenorhabditis elegans	AB1
EFO:0004043	\N	\N	"Strain of C. elegans" []	EFO:0004043	"Strain of C. elegans" []	66055	\N	\N	EFO	0	EFO	AB2	AB2
NCBITaxon:6239	\N	\N	"" []	EFO:0004043	"Strain of C. elegans" []	194610	\N	\N	EFO	0	EFO	Caenorhabditis elegans	AB2
EFO:0004044	\N	\N	"Strain of C. elegans described as small, recessive, abnormal bursae, males abnormal with M-MATING-NO SUCCESS." []	EFO:0004044	"Strain of C. elegans described as small, recessive, abnormal bursae, males abnormal with M-MATING-NO SUCCESS." []	66056	\N	\N	EFO	0	EFO	CB30	CB30
NCBITaxon:6239	\N	\N	"" []	EFO:0004044	"Strain of C. elegans described as small, recessive, abnormal bursae, males abnormal with M-MATING-NO SUCCESS." []	194611	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB30
EFO:0004045	\N	\N	"Strain of C. elegans" []	EFO:0004045	"Strain of C. elegans" []	66057	\N	\N	EFO	0	EFO	CB88	CB88
NCBITaxon:6239	\N	\N	"" []	EFO:0004045	"Strain of C. elegans" []	194612	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB88
EFO:0004046	\N	\N	"C. elegans strain described as \\"Small Dpy\\"" []	EFO:0004046	"C. elegans strain described as \\"Small Dpy\\"" []	66058	\N	\N	EFO	0	EFO	CB128	CB128
NCBITaxon:6239	\N	\N	"" []	EFO:0004046	"C. elegans strain described as \\"Small Dpy\\"" []	194613	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB128
EFO:0004047	\N	\N	"Strain of C. elegans described as \\"Semi-dominant Dpy. Mapping marker standard. M-MATING++ 1-10%WT.\\"" []	EFO:0004047	"Strain of C. elegans described as \\"Semi-dominant Dpy. Mapping marker standard. M-MATING++ 1-10%WT.\\"" []	66059	\N	\N	EFO	0	EFO	CB184	CB184
NCBITaxon:6239	\N	\N	"" []	EFO:0004047	"Strain of C. elegans described as \\"Semi-dominant Dpy. Mapping marker standard. M-MATING++ 1-10%WT.\\"" []	194614	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB184
EFO:0004048	\N	\N	"C. elegans strain described with phenotypes \\"Long. Abnormal bursae. Epistatic to Small. Recessive. M-MATING-NO SUCCESS.\\"" []	EFO:0004048	"C. elegans strain described with phenotypes \\"Long. Abnormal bursae. Epistatic to Small. Recessive. M-MATING-NO SUCCESS.\\"" []	66060	\N	\N	EFO	0	EFO	CB185	CB185
NCBITaxon:6239	\N	\N	"" []	EFO:0004048	"C. elegans strain described with phenotypes \\"Long. Abnormal bursae. Epistatic to Small. Recessive. M-MATING-NO SUCCESS.\\"" []	194615	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB185
EFO:0004049	\N	\N	"Strain of C. elegans described with phenotypes \\"Small. Recessive. Males abnormal-abnormal spicules. M-MATING-NO SUCCESS.\\"" []	EFO:0004049	"Strain of C. elegans described with phenotypes \\"Small. Recessive. Males abnormal-abnormal spicules. M-MATING-NO SUCCESS.\\"" []	66061	\N	\N	EFO	0	EFO	CB491	CB491
NCBITaxon:6239	\N	\N	"" []	EFO:0004049	"Strain of C. elegans described with phenotypes \\"Small. Recessive. Males abnormal-abnormal spicules. M-MATING-NO SUCCESS.\\"" []	194616	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB491
EFO:0004050	\N	\N	"Strain of C. elegans described as \\"Long. Mapping marker standard. M-MATING++++ >30%WT.\\"" []	EFO:0004050	"Strain of C. elegans described as \\"Long. Mapping marker standard. M-MATING++++ >30%WT.\\"" []	66062	\N	\N	EFO	0	EFO	CB678	CB678
NCBITaxon:6239	\N	\N	"" []	EFO:0004050	"Strain of C. elegans described as \\"Long. Mapping marker standard. M-MATING++++ >30%WT.\\"" []	194617	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB678
EFO:0004051	\N	\N	"C. elegans strain described with phenotypes; solitary feeding increased, foraging behavior variant." []	EFO:0004051	"C. elegans strain described with phenotypes; solitary feeding increased, foraging behavior variant." []	66063	\N	\N	EFO	0	EFO	CB4555	CB4555
NCBITaxon:6239	\N	\N	"" []	EFO:0004051	"C. elegans strain described with phenotypes; solitary feeding increased, foraging behavior variant." []	194618	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB4555
EFO:0004052	\N	\N	"C. elegans strain with phenotypes; social feeding increased, foraging behavior variant, carbon dioxide response variant, bordering." []	EFO:0004052	"C. elegans strain with phenotypes; social feeding increased, foraging behavior variant, carbon dioxide response variant, bordering." []	66064	\N	\N	EFO	0	EFO	CB4853	CB4853
NCBITaxon:6239	\N	\N	"" []	EFO:0004052	"C. elegans strain with phenotypes; social feeding increased, foraging behavior variant, carbon dioxide response variant, bordering." []	194619	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB4853
EFO:0004053	\N	\N	"C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering." []	EFO:0004053	"C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering." []	66065	\N	\N	EFO	0	EFO	CB4854	CB4854
NCBITaxon:6239	\N	\N	"" []	EFO:0004053	"C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering." []	194620	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB4854
EFO:0004054	\N	\N	"C. elegans strain with phenotypes; social feeding increased, foraging behavior variant, bordering." []	EFO:0004054	"C. elegans strain with phenotypes; social feeding increased, foraging behavior variant, bordering." []	66066	\N	\N	EFO	0	EFO	CB4855	CB4855
NCBITaxon:6239	\N	\N	"" []	EFO:0004054	"C. elegans strain with phenotypes; social feeding increased, foraging behavior variant, bordering." []	194621	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB4855
EFO:0004055	\N	\N	"C. elegans strain with phenotypes; social feeding increased, cryophilic, pathogen susceptibility increased (Esp), biofilm absent head (Bah), carbon dioxide response variant, pathogen load variant" []	EFO:0004055	"C. elegans strain with phenotypes; social feeding increased, cryophilic, pathogen susceptibility increased (Esp), biofilm absent head (Bah), carbon dioxide response variant, pathogen load variant" []	66067	\N	\N	EFO	0	EFO	CB4856	CB4856
NCBITaxon:6239	\N	\N	"" []	EFO:0004055	"C. elegans strain with phenotypes; social feeding increased, cryophilic, pathogen susceptibility increased (Esp), biofilm absent head (Bah), carbon dioxide response variant, pathogen load variant" []	194622	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB4856
EFO:0004056	\N	\N	"C. elegans strain described with phenotypes; solitary feeding increased, foraging behavior variant, bordering." []	EFO:0004056	"C. elegans strain described with phenotypes; solitary feeding increased, foraging behavior variant, bordering." []	66068	\N	\N	EFO	0	EFO	CB4857	CB4857
NCBITaxon:6239	\N	\N	"" []	EFO:0004056	"C. elegans strain described with phenotypes; solitary feeding increased, foraging behavior variant, bordering." []	194623	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB4857
EFO:0004057	\N	\N	"C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering" []	EFO:0004057	"C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering" []	66069	\N	\N	EFO	0	EFO	CB4932	CB4932
NCBITaxon:6239	\N	\N	"" []	EFO:0004057	"C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering" []	194624	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB4932
EFO:0004058	\N	\N	"C. elegans strain described as \\"long\\"." []	EFO:0004058	"C. elegans strain described as \\"long\\"." []	66070	\N	\N	EFO	0	EFO	MT3847	MT3847
NCBITaxon:6239	\N	\N	"" []	EFO:0004058	"C. elegans strain described as \\"long\\"." []	194625	\N	\N	EFO	0	EFO	Caenorhabditis elegans	MT3847
EFO:0004059	\N	\N	"C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering." []	EFO:0004059	"C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering." []	66071	\N	\N	EFO	0	EFO	RC301	RC301
NCBITaxon:6239	\N	\N	"" []	EFO:0004059	"C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering." []	194626	\N	\N	EFO	0	EFO	Caenorhabditis elegans	RC301
EFO:0004060	\N	\N	"C. elegans strain with phenotypes; solitary feeding increased, foraging behavior variant." []	EFO:0004060	"C. elegans strain with phenotypes; solitary feeding increased, foraging behavior variant." []	66072	\N	\N	EFO	0	EFO	TR389	TR389
NCBITaxon:6239	\N	\N	"" []	EFO:0004060	"C. elegans strain with phenotypes; solitary feeding increased, foraging behavior variant." []	194627	\N	\N	EFO	0	EFO	Caenorhabditis elegans	TR389
EFO:0004061	\N	\N	"C. elegans strain with phenotypes; solitary feeding increased, foraging behavior variant." []	EFO:0004061	"C. elegans strain with phenotypes; solitary feeding increased, foraging behavior variant." []	66073	\N	\N	EFO	0	EFO	TR403	TR403
NCBITaxon:6239	\N	\N	"" []	EFO:0004061	"C. elegans strain with phenotypes; solitary feeding increased, foraging behavior variant." []	194628	\N	\N	EFO	0	EFO	Caenorhabditis elegans	TR403
EFO:0004062	\N	\N	"C. elegans strian. Additional remarks include \\"Homozygous rrf-3 deletion allele. Increased sensitivity to RNAi when compared to WT animals. Deletion sequence (deletion in lower case letters, flanking undeleted sequence in capital letters): TGCACATATTctacagaatt ------- --------tacccgattaAATGGACAATT (from Plasterk Lab 11/05).\\"" []	EFO:0004062	"C. elegans strian. Additional remarks include \\"Homozygous rrf-3 deletion allele. Increased sensitivity to RNAi when compared to WT animals. Deletion sequence (deletion in lower case letters, flanking undeleted sequence in capital letters): TGCACATATTctacagaatt ------- --------tacccgattaAATGGACAATT (from Plasterk Lab 11/05).\\"" []	66074	\N	\N	EFO	0	EFO	NL2099	NL2099
NCBITaxon:6239	\N	\N	"" []	EFO:0004062	"C. elegans strian. Additional remarks include \\"Homozygous rrf-3 deletion allele. Increased sensitivity to RNAi when compared to WT animals. Deletion sequence (deletion in lower case letters, flanking undeleted sequence in capital letters): TGCACATATTctacagaatt ------- --------tacccgattaAATGGACAATT (from Plasterk Lab 11/05).\\"" []	194629	\N	\N	EFO	0	EFO	Caenorhabditis elegans	NL2099
EFO:0004063	\N	\N	"Strain of C. briggsae described with phenotypes; biofilm absent head (Bah), carbon dioxide response variant, mate finding defective" []	EFO:0004063	"Strain of C. briggsae described with phenotypes; biofilm absent head (Bah), carbon dioxide response variant, mate finding defective" []	66075	\N	\N	EFO	0	EFO	AF16	AF16
NCBITaxon:6238	\N	\N	"" []	EFO:0004063	"Strain of C. briggsae described with phenotypes; biofilm absent head (Bah), carbon dioxide response variant, mate finding defective" []	194630	\N	\N	EFO	0	EFO	Caenorhabditis briggsae	AF16
EFO:0004064	\N	\N	"Strain of C. briggsae defined as having biofilm absent head (Bah)." []	EFO:0004064	"Strain of C. briggsae defined as having biofilm absent head (Bah)." []	66076	\N	\N	EFO	0	EFO	VT847	VT847
NCBITaxon:6238	\N	\N	"" []	EFO:0004064	"Strain of C. briggsae defined as having biofilm absent head (Bah)." []	194631	\N	\N	EFO	0	EFO	Caenorhabditis briggsae	VT847
EFO:0004065	\N	\N	"Strain of C. briggsae" []	EFO:0004065	"Strain of C. briggsae" []	66077	\N	\N	EFO	0	EFO	HK104	HK104
NCBITaxon:6238	\N	\N	"" []	EFO:0004065	"Strain of C. briggsae" []	194632	\N	\N	EFO	0	EFO	Caenorhabditis briggsae	HK104
EFO:0004066	\N	\N	"Strain of C. remanei described as having biofilm absent head (Bah)." []	EFO:0004066	"Strain of C. remanei described as having biofilm absent head (Bah)." []	66078	\N	\N	EFO	0	EFO	EM464	EM464
NCBITaxon:31234	\N	\N	"" []	EFO:0004066	"Strain of C. remanei described as having biofilm absent head (Bah)." []	194633	\N	\N	EFO	0	EFO	Caenorhabditis remanei	EM464
EFO:0004067	\N	\N	"Strain of R. remanei" []	EFO:0004067	"Strain of R. remanei" []	66079	\N	\N	EFO	0	EFO	SB146	SB146
NCBITaxon:446304	EFO:0004067	\N	"" []	EFO:0004067	"Strain of R. remanei" []	207313	\N	\N	EFO	1	EFO	Rhabditis remanei	SB146
NCBITaxon:55887	NCBITaxon:446304	\N	"" []	EFO:0004067	"Strain of R. remanei" []	560430	\N	\N	EFO	2	EFO	Rhabditinae	SB146
NCBITaxon:2759	NCBITaxon:55887	\N	"" []	EFO:0004067	"Strain of R. remanei" []	1142282	\N	\N	EFO	3	EFO	Eukaryota	SB146
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	EFO:0004067	"Strain of R. remanei" []	2025134	\N	\N	EFO	4	EFO	organism	SB146
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004067	"Strain of R. remanei" []	3177923	\N	\N	EFO	5	EFO	material entity	SB146
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004067	"Strain of R. remanei" []	4387994	\N	\N	EFO	6	EFO	experimental factor	SB146
EFO:0004068	\N	\N	"Strain of O dolichura, collected by a Belgian expedition to the Galapagos archipelago." []	EFO:0004068	"Strain of O dolichura, collected by a Belgian expedition to the Galapagos archipelago." []	66080	\N	\N	EFO	0	EFO	DF5033	DF5033
NCBITaxon:473156	EFO:0004068	\N	"" []	EFO:0004068	"Strain of O dolichura, collected by a Belgian expedition to the Galapagos archipelago." []	207314	\N	\N	EFO	1	EFO	Oscheius dolichura	DF5033
NCBITaxon:55887	NCBITaxon:473156	\N	"" []	EFO:0004068	"Strain of O dolichura, collected by a Belgian expedition to the Galapagos archipelago." []	560431	\N	\N	EFO	2	EFO	Rhabditinae	DF5033
NCBITaxon:2759	NCBITaxon:55887	\N	"" []	EFO:0004068	"Strain of O dolichura, collected by a Belgian expedition to the Galapagos archipelago." []	1142283	\N	\N	EFO	3	EFO	Eukaryota	DF5033
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	EFO:0004068	"Strain of O dolichura, collected by a Belgian expedition to the Galapagos archipelago." []	2025135	\N	\N	EFO	4	EFO	organism	DF5033
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004068	"Strain of O dolichura, collected by a Belgian expedition to the Galapagos archipelago." []	3177924	\N	\N	EFO	5	EFO	material entity	DF5033
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004068	"Strain of O dolichura, collected by a Belgian expedition to the Galapagos archipelago." []	4387995	\N	\N	EFO	6	EFO	experimental factor	DF5033
EFO:0004069	\N	\N	"Strain of O. dolichuroides, Isolated by W. Sudhaus in April 1978 from decaying matter in a hole in a tree in Malindi, Kenya." []	EFO:0004069	"Strain of O. dolichuroides, Isolated by W. Sudhaus in April 1978 from decaying matter in a hole in a tree in Malindi, Kenya." []	66081	\N	\N	EFO	0	EFO	DF5018	DF5018
NCBITaxon:96645	EFO:0004069	\N	"" []	EFO:0004069	"Strain of O. dolichuroides, Isolated by W. Sudhaus in April 1978 from decaying matter in a hole in a tree in Malindi, Kenya." []	207315	\N	\N	EFO	1	EFO	Oscheius dolichuroides	DF5018
NCBITaxon:55887	NCBITaxon:96645	\N	"" []	EFO:0004069	"Strain of O. dolichuroides, Isolated by W. Sudhaus in April 1978 from decaying matter in a hole in a tree in Malindi, Kenya." []	560432	\N	\N	EFO	2	EFO	Rhabditinae	DF5018
NCBITaxon:2759	NCBITaxon:55887	\N	"" []	EFO:0004069	"Strain of O. dolichuroides, Isolated by W. Sudhaus in April 1978 from decaying matter in a hole in a tree in Malindi, Kenya." []	1142284	\N	\N	EFO	3	EFO	Eukaryota	DF5018
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	EFO:0004069	"Strain of O. dolichuroides, Isolated by W. Sudhaus in April 1978 from decaying matter in a hole in a tree in Malindi, Kenya." []	2025136	\N	\N	EFO	4	EFO	organism	DF5018
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004069	"Strain of O. dolichuroides, Isolated by W. Sudhaus in April 1978 from decaying matter in a hole in a tree in Malindi, Kenya." []	3177925	\N	\N	EFO	5	EFO	material entity	DF5018
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004069	"Strain of O. dolichuroides, Isolated by W. Sudhaus in April 1978 from decaying matter in a hole in a tree in Malindi, Kenya." []	4387996	\N	\N	EFO	6	EFO	experimental factor	DF5018
EFO:0004070	\N	\N	"Strain of O. myriophila, isolated by D. Fitch in June 1990 from soil in Scott Emmons' compost heap in the Fort Greene section of Brooklyn, NY. A second strain, DF5038, was isolated from the same location one year later from the head and ventral segments of a male pill bug (Armadillidium vulgare). Hermaphroditic. Males are easily isolated by heat shocking L4 or early adult hermaphrodites at 30C for 6-12 hrs. Grows well at 6-25C on OP50. Dauer larvae accumulate under starved or overcrowded conditions. Freezes easily using C. elegans protocols with 90% viability. Previously called Rhabditis sp. See also WBPaper00003418." []	EFO:0004070	"Strain of O. myriophila, isolated by D. Fitch in June 1990 from soil in Scott Emmons' compost heap in the Fort Greene section of Brooklyn, NY. A second strain, DF5038, was isolated from the same location one year later from the head and ventral segments of a male pill bug (Armadillidium vulgare). Hermaphroditic. Males are easily isolated by heat shocking L4 or early adult hermaphrodites at 30C for 6-12 hrs. Grows well at 6-25C on OP50. Dauer larvae accumulate under starved or overcrowded conditions. Freezes easily using C. elegans protocols with 90% viability. Previously called Rhabditis sp. See also WBPaper00003418." []	66082	\N	\N	EFO	0	EFO	EM435	EM435
NCBITaxon:281680	EFO:0004070	\N	"" []	EFO:0004070	"Strain of O. myriophila, isolated by D. Fitch in June 1990 from soil in Scott Emmons' compost heap in the Fort Greene section of Brooklyn, NY. A second strain, DF5038, was isolated from the same location one year later from the head and ventral segments of a male pill bug (Armadillidium vulgare). Hermaphroditic. Males are easily isolated by heat shocking L4 or early adult hermaphrodites at 30C for 6-12 hrs. Grows well at 6-25C on OP50. Dauer larvae accumulate under starved or overcrowded conditions. Freezes easily using C. elegans protocols with 90% viability. Previously called Rhabditis sp. See also WBPaper00003418." []	207316	\N	\N	EFO	1	EFO	Oscheius myriophila	EM435
NCBITaxon:55887	NCBITaxon:281680	\N	"" []	EFO:0004070	"Strain of O. myriophila, isolated by D. Fitch in June 1990 from soil in Scott Emmons' compost heap in the Fort Greene section of Brooklyn, NY. A second strain, DF5038, was isolated from the same location one year later from the head and ventral segments of a male pill bug (Armadillidium vulgare). Hermaphroditic. Males are easily isolated by heat shocking L4 or early adult hermaphrodites at 30C for 6-12 hrs. Grows well at 6-25C on OP50. Dauer larvae accumulate under starved or overcrowded conditions. Freezes easily using C. elegans protocols with 90% viability. Previously called Rhabditis sp. See also WBPaper00003418." []	560433	\N	\N	EFO	2	EFO	Rhabditinae	EM435
NCBITaxon:2759	NCBITaxon:55887	\N	"" []	EFO:0004070	"Strain of O. myriophila, isolated by D. Fitch in June 1990 from soil in Scott Emmons' compost heap in the Fort Greene section of Brooklyn, NY. A second strain, DF5038, was isolated from the same location one year later from the head and ventral segments of a male pill bug (Armadillidium vulgare). Hermaphroditic. Males are easily isolated by heat shocking L4 or early adult hermaphrodites at 30C for 6-12 hrs. Grows well at 6-25C on OP50. Dauer larvae accumulate under starved or overcrowded conditions. Freezes easily using C. elegans protocols with 90% viability. Previously called Rhabditis sp. See also WBPaper00003418." []	1142285	\N	\N	EFO	3	EFO	Eukaryota	EM435
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	EFO:0004070	"Strain of O. myriophila, isolated by D. Fitch in June 1990 from soil in Scott Emmons' compost heap in the Fort Greene section of Brooklyn, NY. A second strain, DF5038, was isolated from the same location one year later from the head and ventral segments of a male pill bug (Armadillidium vulgare). Hermaphroditic. Males are easily isolated by heat shocking L4 or early adult hermaphrodites at 30C for 6-12 hrs. Grows well at 6-25C on OP50. Dauer larvae accumulate under starved or overcrowded conditions. Freezes easily using C. elegans protocols with 90% viability. Previously called Rhabditis sp. See also WBPaper00003418." []	2025137	\N	\N	EFO	4	EFO	organism	EM435
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004070	"Strain of O. myriophila, isolated by D. Fitch in June 1990 from soil in Scott Emmons' compost heap in the Fort Greene section of Brooklyn, NY. A second strain, DF5038, was isolated from the same location one year later from the head and ventral segments of a male pill bug (Armadillidium vulgare). Hermaphroditic. Males are easily isolated by heat shocking L4 or early adult hermaphrodites at 30C for 6-12 hrs. Grows well at 6-25C on OP50. Dauer larvae accumulate under starved or overcrowded conditions. Freezes easily using C. elegans protocols with 90% viability. Previously called Rhabditis sp. See also WBPaper00003418." []	3177926	\N	\N	EFO	5	EFO	material entity	EM435
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004070	"Strain of O. myriophila, isolated by D. Fitch in June 1990 from soil in Scott Emmons' compost heap in the Fort Greene section of Brooklyn, NY. A second strain, DF5038, was isolated from the same location one year later from the head and ventral segments of a male pill bug (Armadillidium vulgare). Hermaphroditic. Males are easily isolated by heat shocking L4 or early adult hermaphrodites at 30C for 6-12 hrs. Grows well at 6-25C on OP50. Dauer larvae accumulate under starved or overcrowded conditions. Freezes easily using C. elegans protocols with 90% viability. Previously called Rhabditis sp. See also WBPaper00003418." []	4387997	\N	\N	EFO	6	EFO	experimental factor	EM435
EFO:0004071	\N	\N	"Strain of O. tipulae, isolated in 1991 by Carlos E. Winter in soil samples taken at the University of Sao Paulo in Brazil. Hermaphrodite strain. Adults are 1.5mm. The life cycle is a little longer than C. elegans at 22C. Each lays about 300 eggs in the three days following the moult from L4 to adult. Eggs are laid just after being fertilized resulting sometimes in plates with many eggs (much more than C. elegans). See Comp. Biochem. Physiol 103B: 189, 1992. See Nematology 2(1): 89-98, 2000. Can be grown and maintained on NGM. L1s easily frozen and stored in liquid nitrogen." []	EFO:0004071	"Strain of O. tipulae, isolated in 1991 by Carlos E. Winter in soil samples taken at the University of Sao Paulo in Brazil. Hermaphrodite strain. Adults are 1.5mm. The life cycle is a little longer than C. elegans at 22C. Each lays about 300 eggs in the three days following the moult from L4 to adult. Eggs are laid just after being fertilized resulting sometimes in plates with many eggs (much more than C. elegans). See Comp. Biochem. Physiol 103B: 189, 1992. See Nematology 2(1): 89-98, 2000. Can be grown and maintained on NGM. L1s easily frozen and stored in liquid nitrogen." []	66083	\N	\N	EFO	0	EFO	CEW1	CEW1
NCBITaxon:141969	EFO:0004071	\N	"" []	EFO:0004071	"Strain of O. tipulae, isolated in 1991 by Carlos E. Winter in soil samples taken at the University of Sao Paulo in Brazil. Hermaphrodite strain. Adults are 1.5mm. The life cycle is a little longer than C. elegans at 22C. Each lays about 300 eggs in the three days following the moult from L4 to adult. Eggs are laid just after being fertilized resulting sometimes in plates with many eggs (much more than C. elegans). See Comp. Biochem. Physiol 103B: 189, 1992. See Nematology 2(1): 89-98, 2000. Can be grown and maintained on NGM. L1s easily frozen and stored in liquid nitrogen." []	207317	\N	\N	EFO	1	EFO	Oscheius tipulae	CEW1
NCBITaxon:55887	NCBITaxon:141969	\N	"" []	EFO:0004071	"Strain of O. tipulae, isolated in 1991 by Carlos E. Winter in soil samples taken at the University of Sao Paulo in Brazil. Hermaphrodite strain. Adults are 1.5mm. The life cycle is a little longer than C. elegans at 22C. Each lays about 300 eggs in the three days following the moult from L4 to adult. Eggs are laid just after being fertilized resulting sometimes in plates with many eggs (much more than C. elegans). See Comp. Biochem. Physiol 103B: 189, 1992. See Nematology 2(1): 89-98, 2000. Can be grown and maintained on NGM. L1s easily frozen and stored in liquid nitrogen." []	560434	\N	\N	EFO	2	EFO	Rhabditinae	CEW1
NCBITaxon:2759	NCBITaxon:55887	\N	"" []	EFO:0004071	"Strain of O. tipulae, isolated in 1991 by Carlos E. Winter in soil samples taken at the University of Sao Paulo in Brazil. Hermaphrodite strain. Adults are 1.5mm. The life cycle is a little longer than C. elegans at 22C. Each lays about 300 eggs in the three days following the moult from L4 to adult. Eggs are laid just after being fertilized resulting sometimes in plates with many eggs (much more than C. elegans). See Comp. Biochem. Physiol 103B: 189, 1992. See Nematology 2(1): 89-98, 2000. Can be grown and maintained on NGM. L1s easily frozen and stored in liquid nitrogen." []	1142286	\N	\N	EFO	3	EFO	Eukaryota	CEW1
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	EFO:0004071	"Strain of O. tipulae, isolated in 1991 by Carlos E. Winter in soil samples taken at the University of Sao Paulo in Brazil. Hermaphrodite strain. Adults are 1.5mm. The life cycle is a little longer than C. elegans at 22C. Each lays about 300 eggs in the three days following the moult from L4 to adult. Eggs are laid just after being fertilized resulting sometimes in plates with many eggs (much more than C. elegans). See Comp. Biochem. Physiol 103B: 189, 1992. See Nematology 2(1): 89-98, 2000. Can be grown and maintained on NGM. L1s easily frozen and stored in liquid nitrogen." []	2025138	\N	\N	EFO	4	EFO	organism	CEW1
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004071	"Strain of O. tipulae, isolated in 1991 by Carlos E. Winter in soil samples taken at the University of Sao Paulo in Brazil. Hermaphrodite strain. Adults are 1.5mm. The life cycle is a little longer than C. elegans at 22C. Each lays about 300 eggs in the three days following the moult from L4 to adult. Eggs are laid just after being fertilized resulting sometimes in plates with many eggs (much more than C. elegans). See Comp. Biochem. Physiol 103B: 189, 1992. See Nematology 2(1): 89-98, 2000. Can be grown and maintained on NGM. L1s easily frozen and stored in liquid nitrogen." []	3177927	\N	\N	EFO	5	EFO	material entity	CEW1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004071	"Strain of O. tipulae, isolated in 1991 by Carlos E. Winter in soil samples taken at the University of Sao Paulo in Brazil. Hermaphrodite strain. Adults are 1.5mm. The life cycle is a little longer than C. elegans at 22C. Each lays about 300 eggs in the three days following the moult from L4 to adult. Eggs are laid just after being fertilized resulting sometimes in plates with many eggs (much more than C. elegans). See Comp. Biochem. Physiol 103B: 189, 1992. See Nematology 2(1): 89-98, 2000. Can be grown and maintained on NGM. L1s easily frozen and stored in liquid nitrogen." []	4387998	\N	\N	EFO	6	EFO	experimental factor	CEW1
EFO:0004072	\N	\N	"Strain of C. elegans." []	EFO:0004072	"Strain of C. elegans." []	66084	\N	\N	EFO	0	EFO	AA120	AA120
NCBITaxon:6239	\N	\N	"" []	EFO:0004072	"Strain of C. elegans." []	194634	\N	\N	EFO	0	EFO	Caenorhabditis elegans	AA120
EFO:0004073	\N	\N	"Strain of C. elegans, remarked as a \\"twitcher\\"." []	EFO:0004073	"Strain of C. elegans, remarked as a \\"twitcher\\"." []	66085	\N	\N	EFO	0	EFO	CB66	CB66
NCBITaxon:6239	\N	\N	"" []	EFO:0004073	"Strain of C. elegans, remarked as a \\"twitcher\\"." []	194635	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB66
EFO:0004074	\N	\N	"Strain of C. elegans, remarked as uncoordinated and may contain a weak daf-2 mutation (sa875)." []	EFO:0004074	"Strain of C. elegans, remarked as uncoordinated and may contain a weak daf-2 mutation (sa875)." []	66086	\N	\N	EFO	0	EFO	CB120	CB120
NCBITaxon:6239	\N	\N	"" []	EFO:0004074	"Strain of C. elegans, remarked as uncoordinated and may contain a weak daf-2 mutation (sa875)." []	194636	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB120
EFO:0004075	\N	\N	"" []	EFO:0004075	"" []	66087	\N	\N	EFO	0	EFO	CB155	CB155
NCBITaxon:6239	\N	\N	"" []	EFO:0004075	"" []	194637	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB155
EFO:0004076	\N	\N	"Strain of C. elegans, remarked as Coiler Unc, severe, recessive." []	EFO:0004076	"Strain of C. elegans, remarked as Coiler Unc, severe, recessive." []	66088	\N	\N	EFO	0	EFO	CB189	CB189
NCBITaxon:6239	\N	\N	"" []	EFO:0004076	"Strain of C. elegans, remarked as Coiler Unc, severe, recessive." []	194638	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB189
EFO:0004077	\N	\N	"Strain of C. elegans, remarked as growth slow, Unc and small, revertible." []	EFO:0004077	"Strain of C. elegans, remarked as growth slow, Unc and small, revertible." []	66089	\N	\N	EFO	0	EFO	CB205	CB205
NCBITaxon:6239	\N	\N	"" []	EFO:0004077	"Strain of C. elegans, remarked as growth slow, Unc and small, revertible." []	194639	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB205
EFO:0004078	\N	\N	"Strain of C. elegans Levamisole resistant, recessive, Kinky Unc." []	EFO:0004078	"Strain of C. elegans Levamisole resistant, recessive, Kinky Unc." []	66090	\N	\N	EFO	0	EFO	CB306	CB306
NCBITaxon:6239	\N	\N	"" []	EFO:0004078	"Strain of C. elegans Levamisole resistant, recessive, Kinky Unc." []	194640	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB306
EFO:0004079	\N	\N	"Strain of C. elegans, remarked as temperature sensitive dauer constitutive, maintan at 15C, 100% dauers at 25C. 15% dauer formation at 20C. Long-lived." []	EFO:0004079	"Strain of C. elegans, remarked as temperature sensitive dauer constitutive, maintan at 15C, 100% dauers at 25C. 15% dauer formation at 20C. Long-lived." []	66091	\N	\N	EFO	0	EFO	CB1370	CB1370
NCBITaxon:6239	\N	\N	"" []	EFO:0004079	"Strain of C. elegans, remarked as temperature sensitive dauer constitutive, maintan at 15C, 100% dauers at 25C. 15% dauer formation at 20C. Long-lived." []	194641	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB1370
EFO:0004080	\N	\N	"C. elegans strain remarked as defective dauer formation. Hermaphrodites accumulate oocytes. Males mate poorly." []	EFO:0004080	"C. elegans strain remarked as defective dauer formation. Hermaphrodites accumulate oocytes. Males mate poorly." []	66092	\N	\N	EFO	0	EFO	DR20	DR20
NCBITaxon:6239	\N	\N	"" []	EFO:0004080	"C. elegans strain remarked as defective dauer formation. Hermaphrodites accumulate oocytes. Males mate poorly." []	194642	\N	\N	EFO	0	EFO	Caenorhabditis elegans	DR20
EFO:0004081	\N	\N	"Strain of C. elegans, described as Dauer defective-leaky. Somewhat small. Suppresses daf-2." []	EFO:0004081	"Strain of C. elegans, described as Dauer defective-leaky. Somewhat small. Suppresses daf-2." []	66093	\N	\N	EFO	0	EFO	DR26	DR26
NCBITaxon:6239	\N	\N	"" []	EFO:0004081	"Strain of C. elegans, described as Dauer defective-leaky. Somewhat small. Suppresses daf-2." []	194643	\N	\N	EFO	0	EFO	Caenorhabditis elegans	DR26
EFO:0004082	\N	\N	"C. elegans, described as temperature sensitive dauer constitutive. 100% dauers at 25C. Dauer recovery poor at 15C. Maternal effect. Egg retainer." []	EFO:0004082	"C. elegans, described as temperature sensitive dauer constitutive. 100% dauers at 25C. Dauer recovery poor at 15C. Maternal effect. Egg retainer." []	66094	\N	\N	EFO	0	EFO	DR40	DR40
NCBITaxon:6239	\N	\N	"" []	EFO:0004082	"C. elegans, described as temperature sensitive dauer constitutive. 100% dauers at 25C. Dauer recovery poor at 15C. Maternal effect. Egg retainer." []	194644	\N	\N	EFO	0	EFO	Caenorhabditis elegans	DR40
EFO:0004083	\N	\N	"C. elegans strain, described as temperature sensitive, leaky at 25C. Dauers recover poorly at 15C. Dauers escape plates. Recessive. Chemotaxis defective (Na+)" []	EFO:0004083	"C. elegans strain, described as temperature sensitive, leaky at 25C. Dauers recover poorly at 15C. Dauers escape plates. Recessive. Chemotaxis defective (Na+)" []	66095	\N	\N	EFO	0	EFO	DR47	DR47
NCBITaxon:6239	\N	\N	"" []	EFO:0004083	"C. elegans strain, described as temperature sensitive, leaky at 25C. Dauers recover poorly at 15C. Dauers escape plates. Recessive. Chemotaxis defective (Na+)" []	194645	\N	\N	EFO	0	EFO	Caenorhabditis elegans	DR47
EFO:0004084	\N	\N	"C. elegans strain, described as temperature-sensitive dauer-consitutive, long-lived, intrinsically thermotolerant. Adults slightly shorter than adults of other daf-2 alleles. Up to 6% of L1s arrest at 25.5C. Makes nearly 100% dauers at 25C, 0% dauers at 15C. Good recovery of dauers at 15C." []	EFO:0004084	"C. elegans strain, described as temperature-sensitive dauer-consitutive, long-lived, intrinsically thermotolerant. Adults slightly shorter than adults of other daf-2 alleles. Up to 6% of L1s arrest at 25.5C. Makes nearly 100% dauers at 25C, 0% dauers at 15C. Good recovery of dauers at 15C." []	66096	\N	\N	EFO	0	EFO	DR1564	DR1564
NCBITaxon:6239	\N	\N	"" []	EFO:0004084	"C. elegans strain, described as temperature-sensitive dauer-consitutive, long-lived, intrinsically thermotolerant. Adults slightly shorter than adults of other daf-2 alleles. Up to 6% of L1s arrest at 25.5C. Makes nearly 100% dauers at 25C, 0% dauers at 15C. Good recovery of dauers at 15C." []	194646	\N	\N	EFO	0	EFO	Caenorhabditis elegans	DR1564
EFO:0004085	\N	\N	"Strain of C. elegans, described as Class 1 allele of daf-2. Temperature sensitive Daf-c. Adults are long-lived (Age) and exhibit extrinsic thermotolerance (Itt)." []	EFO:0004085	"Strain of C. elegans, described as Class 1 allele of daf-2. Temperature sensitive Daf-c. Adults are long-lived (Age) and exhibit extrinsic thermotolerance (Itt)." []	66097	\N	\N	EFO	0	EFO	DR1567	DR1567
NCBITaxon:6239	\N	\N	"" []	EFO:0004085	"Strain of C. elegans, described as Class 1 allele of daf-2. Temperature sensitive Daf-c. Adults are long-lived (Age) and exhibit extrinsic thermotolerance (Itt)." []	194647	\N	\N	EFO	0	EFO	Caenorhabditis elegans	DR1567
EFO:0004086	\N	\N	"Strain of C. elegans, described as Class 1 allele of daf-2. Temperature sensitive Daf-c. Adults are long-lived (Age) and exhibit extrinsic thermotolerance (Itt)." []	EFO:0004086	"Strain of C. elegans, described as Class 1 allele of daf-2. Temperature sensitive Daf-c. Adults are long-lived (Age) and exhibit extrinsic thermotolerance (Itt)." []	66098	\N	\N	EFO	0	EFO	DR1572	DR1572
NCBITaxon:6239	\N	\N	"" []	EFO:0004086	"Strain of C. elegans, described as Class 1 allele of daf-2. Temperature sensitive Daf-c. Adults are long-lived (Age) and exhibit extrinsic thermotolerance (Itt)." []	194648	\N	\N	EFO	0	EFO	Caenorhabditis elegans	DR1572
EFO:0004087	\N	\N	"" []	EFO:0004087	"" []	66099	\N	\N	EFO	0	EFO	GR1307	GR1307
NCBITaxon:6239	\N	\N	"" []	EFO:0004087	"" []	194649	\N	\N	EFO	0	EFO	Caenorhabditis elegans	GR1307
EFO:0004088	\N	\N	"C. elegans strain described as Daf-c at 27C. Weakly Egl and Clumpy." []	EFO:0004088	"C. elegans strain described as Daf-c at 27C. Weakly Egl and Clumpy." []	66100	\N	\N	EFO	0	EFO	JT709	JT709
NCBITaxon:6239	\N	\N	"" []	EFO:0004088	"C. elegans strain described as Daf-c at 27C. Weakly Egl and Clumpy." []	194650	\N	\N	EFO	0	EFO	Caenorhabditis elegans	JT709
EFO:0004089	\N	\N	"C. elegans strain. Remarks include: the embryos from homozygous mutant mothers display defects in the unequal cell divisions of P2 and P3, defects in partitioning of germ granules during these divisions, and defects in formation of the germ-line precursor cell P4. The embryos that lack P4 develop into sterile adults. These defects are incompletely expressed and sensitive to temperature. Homozygous mothers produce about 10% sterile progeny at 16C and 70% sterile progeny at 25C. The temperature sensitive period is early in embryogenesis, from fertilization to about the 28-cell stage." []	EFO:0004089	"C. elegans strain. Remarks include: the embryos from homozygous mutant mothers display defects in the unequal cell divisions of P2 and P3, defects in partitioning of germ granules during these divisions, and defects in formation of the germ-line precursor cell P4. The embryos that lack P4 develop into sterile adults. These defects are incompletely expressed and sensitive to temperature. Homozygous mothers produce about 10% sterile progeny at 16C and 70% sterile progeny at 25C. The temperature sensitive period is early in embryogenesis, from fertilization to about the 28-cell stage." []	66101	\N	\N	EFO	0	EFO	SS149	SS149
NCBITaxon:6239	\N	\N	"" []	EFO:0004089	"C. elegans strain. Remarks include: the embryos from homozygous mutant mothers display defects in the unequal cell divisions of P2 and P3, defects in partitioning of germ granules during these divisions, and defects in formation of the germ-line precursor cell P4. The embryos that lack P4 develop into sterile adults. These defects are incompletely expressed and sensitive to temperature. Homozygous mothers produce about 10% sterile progeny at 16C and 70% sterile progeny at 25C. The temperature sensitive period is early in embryogenesis, from fertilization to about the 28-cell stage." []	194651	\N	\N	EFO	0	EFO	Caenorhabditis elegans	SS149
EFO:0004090	\N	\N	"C. elegans strain, described as having slow development and behavior." []	EFO:0004090	"C. elegans strain, described as having slow development and behavior." []	66102	\N	\N	EFO	0	EFO	MQ887	MQ887
NCBITaxon:6239	\N	\N	"" []	EFO:0004090	"C. elegans strain, described as having slow development and behavior." []	194652	\N	\N	EFO	0	EFO	Caenorhabditis elegans	MQ887
EFO:0004091	\N	\N	"C. elegans strain, described as Methylviologen (paraquat) sensitive, oxygen sensitive and having a short life span." []	EFO:0004091	"C. elegans strain, described as Methylviologen (paraquat) sensitive, oxygen sensitive and having a short life span." []	66103	\N	\N	EFO	0	EFO	TK22	TK22
NCBITaxon:6239	\N	\N	"" []	EFO:0004091	"C. elegans strain, described as Methylviologen (paraquat) sensitive, oxygen sensitive and having a short life span." []	194653	\N	\N	EFO	0	EFO	Caenorhabditis elegans	TK22
EFO:0004092	\N	\N	"C. elegans strain, described as Superficially wild type. This strain was provided by the C. elegans Reverse Genetics Core Facility at UBC, which is part of the International C. elegans Gene Knockout Consortium" []	EFO:0004092	"C. elegans strain, described as Superficially wild type. This strain was provided by the C. elegans Reverse Genetics Core Facility at UBC, which is part of the International C. elegans Gene Knockout Consortium" []	66104	\N	\N	EFO	0	EFO	VC199	VC199
NCBITaxon:6239	\N	\N	"" []	EFO:0004092	"C. elegans strain, described as Superficially wild type. This strain was provided by the C. elegans Reverse Genetics Core Facility at UBC, which is part of the International C. elegans Gene Knockout Consortium" []	194654	\N	\N	EFO	0	EFO	Caenorhabditis elegans	VC199
EFO:0004093	\N	\N	"Strain of C. elegans." []	EFO:0004093	"Strain of C. elegans." []	66105	\N	\N	EFO	0	EFO	CB4858	CB4858
NCBITaxon:6239	\N	\N	"" []	EFO:0004093	"Strain of C. elegans." []	194655	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB4858
EFO:0004094	\N	\N	"An image prodcued as the result of a scan, such as a medical scanner or array scanner." []	EFO:0004094	"An image prodcued as the result of a scan, such as a medical scanner or array scanner." []	66106	\N	\N	EFO	0	EFO	scanned image	scanned image
IAO:0000101	EFO:0004094	\N	"An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface." []	EFO:0004094	"An image prodcued as the result of a scan, such as a medical scanner or array scanner." []	207318	\N	\N	EFO	1	EFO	image	scanned image
IAO:0000030	IAO:0000101	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004094	"An image prodcued as the result of a scan, such as a medical scanner or array scanner." []	560435	\N	\N	EFO	2	EFO	information entity	scanned image
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004094	"An image prodcued as the result of a scan, such as a medical scanner or array scanner." []	1142287	\N	\N	EFO	3	EFO	experimental factor	scanned image
EFO:0004095	\N	\N	"A file stored for use on a computer containing data." []	EFO:0004095	"A file stored for use on a computer containing data." []	66107	\N	\N	EFO	0	EFO	data file	data file
IAO:0000030	EFO:0004095	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004095	"A file stored for use on a computer containing data." []	207319	\N	\N	EFO	1	EFO	information entity	data file
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004095	"A file stored for use on a computer containing data." []	560436	\N	\N	EFO	2	EFO	experimental factor	data file
EFO:0004096	\N	\N	"A data file containing array data which has been processed in some way using a data transformation." []	EFO:0004096	"A data file containing array data which has been processed in some way using a data transformation." []	66108	\N	\N	EFO	0	EFO	processed array data file	processed array data file
EFO:0004098	EFO:0004096	\N	"A data file which contains data produced as the result of running an array." []	EFO:0004096	"A data file containing array data which has been processed in some way using a data transformation." []	207320	\N	\N	EFO	1	EFO	array data file	processed array data file
EFO:0004095	EFO:0004098	\N	"A file stored for use on a computer containing data." []	EFO:0004096	"A data file containing array data which has been processed in some way using a data transformation." []	560437	\N	\N	EFO	2	EFO	data file	processed array data file
IAO:0000030	EFO:0004095	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004096	"A data file containing array data which has been processed in some way using a data transformation." []	1142288	\N	\N	EFO	3	EFO	information entity	processed array data file
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004096	"A data file containing array data which has been processed in some way using a data transformation." []	2025139	\N	\N	EFO	4	EFO	experimental factor	processed array data file
EFO:0004097	\N	\N	"An array data file which has been transformed into a matrix format as defined by MAGE-TAB specification." []	EFO:0004097	"An array data file which has been transformed into a matrix format as defined by MAGE-TAB specification." []	66109	\N	\N	EFO	0	EFO	MAGE-TAB array data matrix file	MAGE-TAB array data matrix file
EFO:0004098	EFO:0004097	\N	"A data file which contains data produced as the result of running an array." []	EFO:0004097	"An array data file which has been transformed into a matrix format as defined by MAGE-TAB specification." []	207321	\N	\N	EFO	1	EFO	array data file	MAGE-TAB array data matrix file
EFO:0004095	EFO:0004098	\N	"A file stored for use on a computer containing data." []	EFO:0004097	"An array data file which has been transformed into a matrix format as defined by MAGE-TAB specification." []	560438	\N	\N	EFO	2	EFO	data file	MAGE-TAB array data matrix file
IAO:0000030	EFO:0004095	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004097	"An array data file which has been transformed into a matrix format as defined by MAGE-TAB specification." []	1142289	\N	\N	EFO	3	EFO	information entity	MAGE-TAB array data matrix file
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004097	"An array data file which has been transformed into a matrix format as defined by MAGE-TAB specification." []	2025140	\N	\N	EFO	4	EFO	experimental factor	MAGE-TAB array data matrix file
EFO:0004098	\N	\N	"A data file which contains data produced as the result of running an array." []	EFO:0004098	"A data file which contains data produced as the result of running an array." []	66110	\N	\N	EFO	0	EFO	array data file	array data file
EFO:0004095	EFO:0004098	\N	"A file stored for use on a computer containing data." []	EFO:0004098	"A data file which contains data produced as the result of running an array." []	207322	\N	\N	EFO	1	EFO	data file	array data file
IAO:0000030	EFO:0004095	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004098	"A data file which contains data produced as the result of running an array." []	560439	\N	\N	EFO	2	EFO	information entity	array data file
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004098	"A data file which contains data produced as the result of running an array." []	1142290	\N	\N	EFO	3	EFO	experimental factor	array data file
EFO:0004099	\N	\N	"AMAGE-TAB array data matrix file which has been transformed using some data processing/transformation method." []	EFO:0004099	"AMAGE-TAB array data matrix file which has been transformed using some data processing/transformation method." []	66111	\N	\N	EFO	0	EFO	derived MAGE-TAB array data matrix file	derived MAGE-TAB array data matrix file
EFO:0004097	EFO:0004099	\N	"An array data file which has been transformed into a matrix format as defined by MAGE-TAB specification." []	EFO:0004099	"AMAGE-TAB array data matrix file which has been transformed using some data processing/transformation method." []	207323	\N	\N	EFO	1	EFO	MAGE-TAB array data matrix file	derived MAGE-TAB array data matrix file
EFO:0004098	EFO:0004097	\N	"A data file which contains data produced as the result of running an array." []	EFO:0004099	"AMAGE-TAB array data matrix file which has been transformed using some data processing/transformation method." []	560440	\N	\N	EFO	2	EFO	array data file	derived MAGE-TAB array data matrix file
EFO:0004095	EFO:0004098	\N	"A file stored for use on a computer containing data." []	EFO:0004099	"AMAGE-TAB array data matrix file which has been transformed using some data processing/transformation method." []	1142291	\N	\N	EFO	3	EFO	data file	derived MAGE-TAB array data matrix file
IAO:0000030	EFO:0004095	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004099	"AMAGE-TAB array data matrix file which has been transformed using some data processing/transformation method." []	2025141	\N	\N	EFO	4	EFO	information entity	derived MAGE-TAB array data matrix file
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004099	"AMAGE-TAB array data matrix file which has been transformed using some data processing/transformation method." []	3177928	\N	\N	EFO	5	EFO	experimental factor	derived MAGE-TAB array data matrix file
EFO:0004100	\N	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0004100	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	66112	\N	\N	EFO	0	EFO	interleukin	interleukin
EFO:0003786	EFO:0004100	\N	"" []	EFO:0004100	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	207324	\N	\N	EFO	1	EFO	cytokine	interleukin
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0004100	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	560441	\N	\N	EFO	2	EFO	protein	interleukin
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0004100	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	1142292	\N	\N	EFO	3	EFO	chemical compound	interleukin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0004100	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	2025142	\N	\N	EFO	4	EFO	chemical entity	interleukin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004100	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	3177929	\N	\N	EFO	5	EFO	material entity	interleukin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004100	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	4387999	\N	\N	EFO	6	EFO	experimental factor	interleukin
EFO:0004101	\N	\N	"Type of factor that can be used in the Atlas database" []	EFO:0004101	"Type of factor that can be used in the Atlas database" []	66113	\N	\N	EFO	0	EFO	validation type	validation type
IAO:0000030	EFO:0004101	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004101	"Type of factor that can be used in the Atlas database" []	207325	\N	\N	EFO	1	EFO	information entity	validation type
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004101	"Type of factor that can be used in the Atlas database" []	560442	\N	\N	EFO	2	EFO	experimental factor	validation type
EFO:0004102	\N	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0004102	"Sequencing library strategy permitted in Atlas" []	66114	\N	\N	EFO	0	EFO	seq library strategy	seq library strategy
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004102	"Sequencing library strategy permitted in Atlas" []	207326	\N	\N	EFO	1	EFO	assay	seq library strategy
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004102	"Sequencing library strategy permitted in Atlas" []	560443	\N	\N	EFO	2	EFO	experimental process	seq library strategy
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004102	"Sequencing library strategy permitted in Atlas" []	1142293	\N	\N	EFO	3	EFO	planned process	seq library strategy
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004102	"Sequencing library strategy permitted in Atlas" []	2025143	\N	\N	EFO	4	EFO	process	seq library strategy
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004102	"Sequencing library strategy permitted in Atlas" []	3177930	\N	\N	EFO	5	EFO	experimental factor	seq library strategy
EFO:0004103	\N	\N	"Sequencing file type permitted in Atlas" []	EFO:0004103	"Sequencing file type permitted in Atlas" []	66115	\N	\N	EFO	0	EFO	seq file type	seq file type
IAO:0000098	EFO:0004103	\N	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	EFO:0004103	"Sequencing file type permitted in Atlas" []	207327	\N	\N	EFO	1	EFO	data format specification	seq file type
IAO:0000030	IAO:0000098	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004103	"Sequencing file type permitted in Atlas" []	560444	\N	\N	EFO	2	EFO	information entity	seq file type
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004103	"Sequencing file type permitted in Atlas" []	1142294	\N	\N	EFO	3	EFO	experimental factor	seq file type
EFO:0004104	\N	\N	"Sequencing library source permitted in Atlas" []	EFO:0004104	"Sequencing library source permitted in Atlas" []	66116	\N	\N	EFO	0	EFO	seq library source	seq library source
EFO:0004101	EFO:0004104	\N	"Type of factor that can be used in the Atlas database" []	EFO:0004104	"Sequencing library source permitted in Atlas" []	207328	\N	\N	EFO	1	EFO	validation type	seq library source
IAO:0000030	EFO:0004101	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004104	"Sequencing library source permitted in Atlas" []	560445	\N	\N	EFO	2	EFO	information entity	seq library source
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004104	"Sequencing library source permitted in Atlas" []	1142295	\N	\N	EFO	3	EFO	experimental factor	seq library source
EFO:0004105	\N	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004105	"Sequencing library selection permitted in Atlas" []	66117	\N	\N	EFO	0	EFO	seq library selection	seq library selection
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004105	"Sequencing library selection permitted in Atlas" []	207329	\N	\N	EFO	1	EFO	experimental process	seq library selection
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004105	"Sequencing library selection permitted in Atlas" []	560446	\N	\N	EFO	2	EFO	planned process	seq library selection
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004105	"Sequencing library selection permitted in Atlas" []	1142296	\N	\N	EFO	3	EFO	process	seq library selection
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004105	"Sequencing library selection permitted in Atlas" []	2025144	\N	\N	EFO	4	EFO	experimental factor	seq library selection
EFO:0004106	\N	\N	"Sequencing instrument model included in Atlas" []	EFO:0004106	"Sequencing instrument model included in Atlas" []	66118	\N	\N	EFO	0	EFO	seq instrument model	seq instrument model
EFO:0000548	EFO:0004106	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004106	"Sequencing instrument model included in Atlas" []	207330	\N	\N	EFO	1	EFO	instrument	seq instrument model
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004106	"Sequencing instrument model included in Atlas" []	560447	\N	\N	EFO	2	EFO	material entity	seq instrument model
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004106	"Sequencing instrument model included in Atlas" []	1142297	\N	\N	EFO	3	EFO	experimental factor	seq instrument model
EFO:0004107	\N	\N	"Quality control type permitted in Atlas" []	EFO:0004107	"Quality control type permitted in Atlas" []	66119	\N	\N	EFO	0	EFO	Atlas Quality Control type	Atlas Quality Control type
BFO:0000023	EFO:0004107	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0004107	"Quality control type permitted in Atlas" []	207331	\N	\N	EFO	1	EFO	role	Atlas Quality Control type
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004107	"Quality control type permitted in Atlas" []	560448	\N	\N	EFO	2	EFO	material property	Atlas Quality Control type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004107	"Quality control type permitted in Atlas" []	1142298	\N	\N	EFO	3	EFO	experimental factor	Atlas Quality Control type
EFO:0004108	\N	\N	"Experiment type permitted in Atlas" []	EFO:0004108	"Experiment type permitted in Atlas" []	66120	\N	\N	EFO	0	EFO	Atlas experiment type	Atlas experiment type
EFO:0002694	EFO:0004108	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004108	"Experiment type permitted in Atlas" []	207332	\N	\N	EFO	1	EFO	experimental process	Atlas experiment type
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004108	"Experiment type permitted in Atlas" []	560449	\N	\N	EFO	2	EFO	planned process	Atlas experiment type
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004108	"Experiment type permitted in Atlas" []	1142299	\N	\N	EFO	3	EFO	process	Atlas experiment type
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004108	"Experiment type permitted in Atlas" []	2025145	\N	\N	EFO	4	EFO	experimental factor	Atlas experiment type
EFO:0004110	\N	\N	"Flag to mark any term permitted in Atlas" []	EFO:0004110	"Flag to mark any term permitted in Atlas" []	66121	\N	\N	EFO	0	EFO	validation flag	validation flag
IAO:0000030	EFO:0004110	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004110	"Flag to mark any term permitted in Atlas" []	207333	\N	\N	EFO	1	EFO	information entity	validation flag
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004110	"Flag to mark any term permitted in Atlas" []	560450	\N	\N	EFO	2	EFO	experimental factor	validation flag
EFO:0004111	\N	\N	"Flag for Atlas sequencing file types" []	EFO:0004111	"Flag for Atlas sequencing file types" []	66122	\N	\N	EFO	0	EFO	seq file type flag	seq file type flag
EFO:0004110	EFO:0004111	\N	"Flag to mark any term permitted in Atlas" []	EFO:0004111	"Flag for Atlas sequencing file types" []	207334	\N	\N	EFO	1	EFO	validation flag	seq file type flag
IAO:0000030	EFO:0004110	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004111	"Flag for Atlas sequencing file types" []	560451	\N	\N	EFO	2	EFO	information entity	seq file type flag
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004111	"Flag for Atlas sequencing file types" []	1142300	\N	\N	EFO	3	EFO	experimental factor	seq file type flag
EFO:0004112	\N	\N	"Flag for Atlas sequencing library strategies" []	EFO:0004112	"Flag for Atlas sequencing library strategies" []	66123	\N	\N	EFO	0	EFO	seq library strategy flag	seq library strategy flag
EFO:0004110	EFO:0004112	\N	"Flag to mark any term permitted in Atlas" []	EFO:0004112	"Flag for Atlas sequencing library strategies" []	207335	\N	\N	EFO	1	EFO	validation flag	seq library strategy flag
IAO:0000030	EFO:0004110	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004112	"Flag for Atlas sequencing library strategies" []	560452	\N	\N	EFO	2	EFO	information entity	seq library strategy flag
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004112	"Flag for Atlas sequencing library strategies" []	1142301	\N	\N	EFO	3	EFO	experimental factor	seq library strategy flag
EFO:0004113	\N	\N	"Flag for Atlas sequencing library sources" []	EFO:0004113	"Flag for Atlas sequencing library sources" []	66124	\N	\N	EFO	0	EFO	seq library source flag	seq library source flag
EFO:0004110	EFO:0004113	\N	"Flag to mark any term permitted in Atlas" []	EFO:0004113	"Flag for Atlas sequencing library sources" []	207336	\N	\N	EFO	1	EFO	validation flag	seq library source flag
IAO:0000030	EFO:0004110	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004113	"Flag for Atlas sequencing library sources" []	560453	\N	\N	EFO	2	EFO	information entity	seq library source flag
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004113	"Flag for Atlas sequencing library sources" []	1142302	\N	\N	EFO	3	EFO	experimental factor	seq library source flag
EFO:0004114	\N	\N	"Flag for Atlas sequencing library selections" []	EFO:0004114	"Flag for Atlas sequencing library selections" []	66125	\N	\N	EFO	0	EFO	seq library selection flag	seq library selection flag
EFO:0004110	EFO:0004114	\N	"Flag to mark any term permitted in Atlas" []	EFO:0004114	"Flag for Atlas sequencing library selections" []	207337	\N	\N	EFO	1	EFO	validation flag	seq library selection flag
IAO:0000030	EFO:0004110	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004114	"Flag for Atlas sequencing library selections" []	560454	\N	\N	EFO	2	EFO	information entity	seq library selection flag
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004114	"Flag for Atlas sequencing library selections" []	1142303	\N	\N	EFO	3	EFO	experimental factor	seq library selection flag
EFO:0004115	\N	\N	"Flag for Atlas sequencing instrument models" []	EFO:0004115	"Flag for Atlas sequencing instrument models" []	66126	\N	\N	EFO	0	EFO	seq instrument model flag	seq instrument model flag
EFO:0004110	EFO:0004115	\N	"Flag to mark any term permitted in Atlas" []	EFO:0004115	"Flag for Atlas sequencing instrument models" []	207338	\N	\N	EFO	1	EFO	validation flag	seq instrument model flag
IAO:0000030	EFO:0004110	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004115	"Flag for Atlas sequencing instrument models" []	560455	\N	\N	EFO	2	EFO	information entity	seq instrument model flag
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004115	"Flag for Atlas sequencing instrument models" []	1142304	\N	\N	EFO	3	EFO	experimental factor	seq instrument model flag
EFO:0004116	\N	\N	"Flag for Atlas quality control types" []	EFO:0004116	"Flag for Atlas quality control types" []	66127	\N	\N	EFO	0	EFO	QC type flag	QC type flag
EFO:0004110	EFO:0004116	\N	"Flag to mark any term permitted in Atlas" []	EFO:0004116	"Flag for Atlas quality control types" []	207339	\N	\N	EFO	1	EFO	validation flag	QC type flag
IAO:0000030	EFO:0004110	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004116	"Flag for Atlas quality control types" []	560456	\N	\N	EFO	2	EFO	information entity	QC type flag
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004116	"Flag for Atlas quality control types" []	1142305	\N	\N	EFO	3	EFO	experimental factor	QC type flag
EFO:0004117	\N	\N	"Flag for Atlas experiment types" []	EFO:0004117	"Flag for Atlas experiment types" []	66128	\N	\N	EFO	0	EFO	Atlas experiment type flag	Atlas experiment type flag
EFO:0004110	EFO:0004117	\N	"Flag to mark any term permitted in Atlas" []	EFO:0004117	"Flag for Atlas experiment types" []	207340	\N	\N	EFO	1	EFO	validation flag	Atlas experiment type flag
IAO:0000030	EFO:0004110	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004117	"Flag for Atlas experiment types" []	560457	\N	\N	EFO	2	EFO	information entity	Atlas experiment type flag
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004117	"Flag for Atlas experiment types" []	1142306	\N	\N	EFO	3	EFO	experimental factor	Atlas experiment type flag
EFO:0004118	\N	\N	"Flag for Atlas factor types" []	EFO:0004118	"Flag for Atlas factor types" []	66129	\N	\N	EFO	0	EFO	factor type flag	factor type flag
EFO:0004110	EFO:0004118	\N	"Flag to mark any term permitted in Atlas" []	EFO:0004118	"Flag for Atlas factor types" []	207341	\N	\N	EFO	1	EFO	validation flag	factor type flag
IAO:0000030	EFO:0004110	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004118	"Flag for Atlas factor types" []	560458	\N	\N	EFO	2	EFO	information entity	factor type flag
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004118	"Flag for Atlas factor types" []	1142307	\N	\N	EFO	3	EFO	experimental factor	factor type flag
EFO:0004119	\N	\N	"Flag for ArrayExpres experiment types" []	EFO:0004119	"Flag for ArrayExpres experiment types" []	66130	\N	\N	EFO	0	EFO	AE experiment type flag	AE experiment type flag
EFO:0004110	EFO:0004119	\N	"Flag to mark any term permitted in Atlas" []	EFO:0004119	"Flag for ArrayExpres experiment types" []	207342	\N	\N	EFO	1	EFO	validation flag	AE experiment type flag
IAO:0000030	EFO:0004110	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004119	"Flag for ArrayExpres experiment types" []	560459	\N	\N	EFO	2	EFO	information entity	AE experiment type flag
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004119	"Flag for ArrayExpres experiment types" []	1142308	\N	\N	EFO	3	EFO	experimental factor	AE experiment type flag
EFO:0004120	\N	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0004120	"Experiment type permitted specifically in ArrayExpress" []	66131	\N	\N	EFO	0	EFO	ArrayExpress experiment type	ArrayExpress experiment type
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004120	"Experiment type permitted specifically in ArrayExpress" []	207343	\N	\N	EFO	1	EFO	experimental process	ArrayExpress experiment type
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004120	"Experiment type permitted specifically in ArrayExpress" []	560460	\N	\N	EFO	2	EFO	planned process	ArrayExpress experiment type
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004120	"Experiment type permitted specifically in ArrayExpress" []	1142309	\N	\N	EFO	3	EFO	process	ArrayExpress experiment type
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004120	"Experiment type permitted specifically in ArrayExpress" []	2025146	\N	\N	EFO	4	EFO	experimental factor	ArrayExpress experiment type
EFO:0004123	\N	\N	"A synostosis that results in craniosynostosis and syndactyly." []	EFO:0004123	"A synostosis that results in craniosynostosis and syndactyly." []	66132	\N	\N	EFO	0	EFO	acrocephalosyndactylia	acrocephalosyndactylia
EFO:0002461	EFO:0004123	\N	"Any disease which affects part of the skeletal system." []	EFO:0004123	"A synostosis that results in craniosynostosis and syndactyly." []	207344	\N	\N	EFO	1	EFO	skeletal system disease	acrocephalosyndactylia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004123	"A synostosis that results in craniosynostosis and syndactyly." []	560461	\N	\N	EFO	2	EFO	disease	acrocephalosyndactylia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004123	"A synostosis that results in craniosynostosis and syndactyly." []	1142310	\N	\N	EFO	3	EFO	disposition	acrocephalosyndactylia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004123	"A synostosis that results in craniosynostosis and syndactyly." []	2025147	\N	\N	EFO	4	EFO	material property	acrocephalosyndactylia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004123	"A synostosis that results in craniosynostosis and syndactyly." []	3177931	\N	\N	EFO	5	EFO	experimental factor	acrocephalosyndactylia
EFO:0004124	\N	\N	"Darier's disease is anautosomaldominantdisorder discovered by FrenchdermatologistFerdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containingpus. The crusty patches are also known as keratoticpapules, keratosis follicularis or dyskeratosis follicularis." []	EFO:0004124	"Darier's disease is anautosomaldominantdisorder discovered by FrenchdermatologistFerdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containingpus. The crusty patches are also known as keratoticpapules, keratosis follicularis or dyskeratosis follicularis." []	66133	\N	\N	EFO	0	EFO	Darier's disease	Darier's disease
EFO:0000701	EFO:0004124	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0004124	"Darier's disease is anautosomaldominantdisorder discovered by FrenchdermatologistFerdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containingpus. The crusty patches are also known as keratoticpapules, keratosis follicularis or dyskeratosis follicularis." []	207345	\N	\N	EFO	1	EFO	skin disease	Darier's disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004124	"Darier's disease is anautosomaldominantdisorder discovered by FrenchdermatologistFerdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containingpus. The crusty patches are also known as keratoticpapules, keratosis follicularis or dyskeratosis follicularis." []	560462	\N	\N	EFO	2	EFO	disease	Darier's disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004124	"Darier's disease is anautosomaldominantdisorder discovered by FrenchdermatologistFerdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containingpus. The crusty patches are also known as keratoticpapules, keratosis follicularis or dyskeratosis follicularis." []	1142311	\N	\N	EFO	3	EFO	disposition	Darier's disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004124	"Darier's disease is anautosomaldominantdisorder discovered by FrenchdermatologistFerdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containingpus. The crusty patches are also known as keratoticpapules, keratosis follicularis or dyskeratosis follicularis." []	2025148	\N	\N	EFO	4	EFO	material property	Darier's disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004124	"Darier's disease is anautosomaldominantdisorder discovered by FrenchdermatologistFerdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containingpus. The crusty patches are also known as keratoticpapules, keratosis follicularis or dyskeratosis follicularis." []	3177932	\N	\N	EFO	5	EFO	experimental factor	Darier's disease
EFO:0004125	\N	\N	"Mild forms of the disease are the most common, consisting solely of skin rashes that flare-up under certain conditions such as high humidity, high stress or tight-fitting clothes. Even in mild forms, short stature combined with poorly formed fingernails containing vertical striations are diagnostic." []	EFO:0004125	"Mild forms of the disease are the most common, consisting solely of skin rashes that flare-up under certain conditions such as high humidity, high stress or tight-fitting clothes. Even in mild forms, short stature combined with poorly formed fingernails containing vertical striations are diagnostic." []	66134	\N	\N	EFO	0	EFO	growth hormone-secreting pituitary adenoma	growth hormone-secreting pituitary adenoma
EFO:0000508	EFO:0004125	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0004125	"Mild forms of the disease are the most common, consisting solely of skin rashes that flare-up under certain conditions such as high humidity, high stress or tight-fitting clothes. Even in mild forms, short stature combined with poorly formed fingernails containing vertical striations are diagnostic." []	207346	\N	\N	EFO	1	EFO	genetic disorder	growth hormone-secreting pituitary adenoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004125	"Mild forms of the disease are the most common, consisting solely of skin rashes that flare-up under certain conditions such as high humidity, high stress or tight-fitting clothes. Even in mild forms, short stature combined with poorly formed fingernails containing vertical striations are diagnostic." []	560463	\N	\N	EFO	2	EFO	disease	growth hormone-secreting pituitary adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004125	"Mild forms of the disease are the most common, consisting solely of skin rashes that flare-up under certain conditions such as high humidity, high stress or tight-fitting clothes. Even in mild forms, short stature combined with poorly formed fingernails containing vertical striations are diagnostic." []	1142312	\N	\N	EFO	3	EFO	disposition	growth hormone-secreting pituitary adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004125	"Mild forms of the disease are the most common, consisting solely of skin rashes that flare-up under certain conditions such as high humidity, high stress or tight-fitting clothes. Even in mild forms, short stature combined with poorly formed fingernails containing vertical striations are diagnostic." []	2025149	\N	\N	EFO	4	EFO	material property	growth hormone-secreting pituitary adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004125	"Mild forms of the disease are the most common, consisting solely of skin rashes that flare-up under certain conditions such as high humidity, high stress or tight-fitting clothes. Even in mild forms, short stature combined with poorly formed fingernails containing vertical striations are diagnostic." []	3177933	\N	\N	EFO	5	EFO	experimental factor	growth hormone-secreting pituitary adenoma
EFO:0004126	\N	\N	"A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon." []	EFO:0004126	"A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon." []	66135	\N	\N	EFO	0	EFO	Adie syndrome	Adie syndrome
EFO:0001058	EFO:0004126	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0004126	"A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon." []	207347	\N	\N	EFO	1	EFO	sensory system disease	Adie syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004126	"A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon." []	560464	\N	\N	EFO	2	EFO	nervous system disease	Adie syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004126	"A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon." []	1142313	\N	\N	EFO	3	EFO	disease	Adie syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004126	"A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon." []	2025150	\N	\N	EFO	4	EFO	disposition	Adie syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004126	"A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon." []	3177934	\N	\N	EFO	5	EFO	material property	Adie syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004126	"A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon." []	4388000	\N	\N	EFO	6	EFO	experimental factor	Adie syndrome
EFO:0004127	\N	\N	"Abnormally elevated THYROXINE level in the BLOOD." []	EFO:0004127	"Abnormally elevated THYROXINE level in the BLOOD." []	66136	\N	\N	EFO	0	EFO	hyperthyroxinemia	hyperthyroxinemia
EFO:0001379	EFO:0004127	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0004127	"Abnormally elevated THYROXINE level in the BLOOD." []	207348	\N	\N	EFO	1	EFO	endocrine system disease	hyperthyroxinemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004127	"Abnormally elevated THYROXINE level in the BLOOD." []	560465	\N	\N	EFO	2	EFO	disease	hyperthyroxinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004127	"Abnormally elevated THYROXINE level in the BLOOD." []	1142314	\N	\N	EFO	3	EFO	disposition	hyperthyroxinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004127	"Abnormally elevated THYROXINE level in the BLOOD." []	2025151	\N	\N	EFO	4	EFO	material property	hyperthyroxinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004127	"Abnormally elevated THYROXINE level in the BLOOD." []	3177935	\N	\N	EFO	5	EFO	experimental factor	hyperthyroxinemia
EFO:0004128	\N	\N	"A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE." []	EFO:0004128	"A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE." []	66137	\N	\N	EFO	0	EFO	hereditary nephritis	hereditary nephritis
EFO:0003086	EFO:0004128	\N	"A disease affecting the kidneys" []	EFO:0004128	"A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE." []	207349	\N	\N	EFO	1	EFO	kidney disease	hereditary nephritis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004128	"A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE." []	560466	\N	\N	EFO	2	EFO	disease	hereditary nephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004128	"A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE." []	1142315	\N	\N	EFO	3	EFO	disposition	hereditary nephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004128	"A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE." []	2025152	\N	\N	EFO	4	EFO	material property	hereditary nephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004128	"A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE." []	3177936	\N	\N	EFO	5	EFO	experimental factor	hereditary nephritis
EFO:0004129	\N	\N	"The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves." []	EFO:0004129	"The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves." []	66138	\N	\N	EFO	0	EFO	familial amyloid neuropathy	familial amyloid neuropathy
EFO:0003100	EFO:0004129	\N	"A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." []	EFO:0004129	"The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves." []	207350	\N	\N	EFO	1	EFO	peripheral neuropathy	familial amyloid neuropathy
EFO:0004149	EFO:0003100	\N	"A nervous system disease that is located in the nervous system." []	EFO:0004129	"The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves." []	560467	\N	\N	EFO	2	EFO	neuropathy	familial amyloid neuropathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004129	"The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves." []	1142316	\N	\N	EFO	3	EFO	nervous system disease	familial amyloid neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004129	"The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves." []	2025153	\N	\N	EFO	4	EFO	disease	familial amyloid neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004129	"The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves." []	3177937	\N	\N	EFO	5	EFO	disposition	familial amyloid neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004129	"The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves." []	4388001	\N	\N	EFO	6	EFO	material property	familial amyloid neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004129	"The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves." []	5408713	\N	\N	EFO	7	EFO	experimental factor	familial amyloid neuropathy
EFO:0004134	\N	\N	"The physical size of a tumor." []	EFO:0004134	"The physical size of a tumor." []	66139	\N	\N	EFO	0	EFO	tumor size	tumor size
EFO:0001444	EFO:0004134	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004134	"The physical size of a tumor." []	207351	\N	\N	EFO	1	EFO	measurement	tumor size
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004134	"The physical size of a tumor." []	560468	\N	\N	EFO	2	EFO	information entity	tumor size
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004134	"The physical size of a tumor." []	1142317	\N	\N	EFO	3	EFO	experimental factor	tumor size
EFO:0004138	\N	\N	"A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles" []	EFO:0004138	"A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles" []	66140	\N	\N	EFO	0	EFO	bundle branch block	bundle branch block
EFO:0005137	EFO:0004138	\N	"A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" []	EFO:0004138	"A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles" []	207352	\N	\N	EFO	1	EFO	conduction system disorder	bundle branch block
EFO:0003777	EFO:0005137	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0004138	"A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles" []	560469	\N	\N	EFO	2	EFO	heart disease	bundle branch block
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004138	"A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles" []	1142318	\N	\N	EFO	3	EFO	cardiovascular disease	bundle branch block
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004138	"A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles" []	2025154	\N	\N	EFO	4	EFO	disease	bundle branch block
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004138	"A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles" []	3177938	\N	\N	EFO	5	EFO	disposition	bundle branch block
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004138	"A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles" []	4388002	\N	\N	EFO	6	EFO	material property	bundle branch block
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004138	"A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles" []	5408714	\N	\N	EFO	7	EFO	experimental factor	bundle branch block
EFO:0004142	\N	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:0004142	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	66141	\N	\N	EFO	0	EFO	colorectal neoplasm	colorectal neoplasm
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004142	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	207353	\N	\N	EFO	1	EFO	neoplasm	colorectal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004142	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	560470	\N	\N	EFO	2	EFO	disease	colorectal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004142	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	1142319	\N	\N	EFO	3	EFO	disposition	colorectal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004142	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	2025155	\N	\N	EFO	4	EFO	material property	colorectal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004142	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	3177939	\N	\N	EFO	5	EFO	experimental factor	colorectal neoplasm
EFO:0004143	\N	\N	"Carpal Tunnel Syndrome (CTS) is an entrapment idiopathic median neuropathy, causing paresthesia, pain, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel." []	EFO:0004143	"Carpal Tunnel Syndrome (CTS) is an entrapment idiopathic median neuropathy, causing paresthesia, pain, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel." []	66142	\N	\N	EFO	0	EFO	carpal tunnel syndrome	carpal tunnel syndrome
EFO:0000618	EFO:0004143	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004143	"Carpal Tunnel Syndrome (CTS) is an entrapment idiopathic median neuropathy, causing paresthesia, pain, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel." []	207354	\N	\N	EFO	1	EFO	nervous system disease	carpal tunnel syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004143	"Carpal Tunnel Syndrome (CTS) is an entrapment idiopathic median neuropathy, causing paresthesia, pain, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel." []	560471	\N	\N	EFO	2	EFO	disease	carpal tunnel syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004143	"Carpal Tunnel Syndrome (CTS) is an entrapment idiopathic median neuropathy, causing paresthesia, pain, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel." []	1142320	\N	\N	EFO	3	EFO	disposition	carpal tunnel syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004143	"Carpal Tunnel Syndrome (CTS) is an entrapment idiopathic median neuropathy, causing paresthesia, pain, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel." []	2025156	\N	\N	EFO	4	EFO	material property	carpal tunnel syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004143	"Carpal Tunnel Syndrome (CTS) is an entrapment idiopathic median neuropathy, causing paresthesia, pain, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel." []	3177940	\N	\N	EFO	5	EFO	experimental factor	carpal tunnel syndrome
EFO:0004144	\N	\N	"Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene." []	EFO:0004144	"Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene." []	66143	\N	\N	EFO	0	EFO	acatalasia	acatalasia
EFO:0000589	EFO:0004144	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0004144	"Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene." []	207355	\N	\N	EFO	1	EFO	metabolic disease	acatalasia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004144	"Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene." []	560472	\N	\N	EFO	2	EFO	disease	acatalasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004144	"Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene." []	1142321	\N	\N	EFO	3	EFO	disposition	acatalasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004144	"Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene." []	2025157	\N	\N	EFO	4	EFO	material property	acatalasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004144	"Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene." []	3177941	\N	\N	EFO	5	EFO	experimental factor	acatalasia
EFO:0004145	\N	\N	"A muscular disease in which the muscle fibers do not function resulting in muscular weakness." []	EFO:0004145	"A muscular disease in which the muscle fibers do not function resulting in muscular weakness." []	66144	\N	\N	EFO	0	EFO	myopathy	myopathy
EFO:0002970	EFO:0004145	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:0004145	"A muscular disease in which the muscle fibers do not function resulting in muscular weakness." []	207356	\N	\N	EFO	1	EFO	muscular disease	myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:0004145	"A muscular disease in which the muscle fibers do not function resulting in muscular weakness." []	560473	\N	\N	EFO	2	EFO	skeletal system disease	myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004145	"A muscular disease in which the muscle fibers do not function resulting in muscular weakness." []	1142322	\N	\N	EFO	3	EFO	disease	myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004145	"A muscular disease in which the muscle fibers do not function resulting in muscular weakness." []	2025158	\N	\N	EFO	4	EFO	disposition	myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004145	"A muscular disease in which the muscle fibers do not function resulting in muscular weakness." []	3177942	\N	\N	EFO	5	EFO	material property	myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004145	"A muscular disease in which the muscle fibers do not function resulting in muscular weakness." []	4388003	\N	\N	EFO	6	EFO	experimental factor	myopathy
EFO:0004149	\N	\N	"A nervous system disease that is located in the nervous system." []	EFO:0004149	"A nervous system disease that is located in the nervous system." []	66145	\N	\N	EFO	0	EFO	neuropathy	neuropathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004149	"A nervous system disease that is located in the nervous system." []	207357	\N	\N	EFO	1	EFO	nervous system disease	neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004149	"A nervous system disease that is located in the nervous system." []	560474	\N	\N	EFO	2	EFO	disease	neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004149	"A nervous system disease that is located in the nervous system." []	1142323	\N	\N	EFO	3	EFO	disposition	neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004149	"A nervous system disease that is located in the nervous system." []	2025159	\N	\N	EFO	4	EFO	material property	neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004149	"A nervous system disease that is located in the nervous system." []	3177943	\N	\N	EFO	5	EFO	experimental factor	neuropathy
EFO:0004152	\N	\N	"Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next." []	EFO:0004152	"Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next." []	66146	\N	\N	EFO	0	EFO	chorea	chorea
EFO:0000618	EFO:0004152	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004152	"Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next." []	207358	\N	\N	EFO	1	EFO	nervous system disease	chorea
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004152	"Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next." []	560475	\N	\N	EFO	2	EFO	disease	chorea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004152	"Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next." []	1142324	\N	\N	EFO	3	EFO	disposition	chorea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004152	"Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next." []	2025160	\N	\N	EFO	4	EFO	material property	chorea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004152	"Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next." []	3177944	\N	\N	EFO	5	EFO	experimental factor	chorea
EFO:0004154	\N	\N	"Sequence Read file forma is a generic format for DNA sequence data capable of storing data generated by any DNA sequencing technology." []	EFO:0004154	"Sequence Read file forma is a generic format for DNA sequence data capable of storing data generated by any DNA sequencing technology." []	66147	\N	\N	EFO	0	EFO	Sequence Read Format (SRF)	Sequence Read Format (SRF)
EFO:0004103	EFO:0004154	\N	"Sequencing file type permitted in Atlas" []	EFO:0004154	"Sequence Read file forma is a generic format for DNA sequence data capable of storing data generated by any DNA sequencing technology." []	207359	\N	\N	EFO	1	EFO	seq file type	Sequence Read Format (SRF)
IAO:0000098	EFO:0004103	\N	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	EFO:0004154	"Sequence Read file forma is a generic format for DNA sequence data capable of storing data generated by any DNA sequencing technology." []	560476	\N	\N	EFO	2	EFO	data format specification	Sequence Read Format (SRF)
IAO:0000030	IAO:0000098	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004154	"Sequence Read file forma is a generic format for DNA sequence data capable of storing data generated by any DNA sequencing technology." []	1142325	\N	\N	EFO	3	EFO	information entity	Sequence Read Format (SRF)
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004154	"Sequence Read file forma is a generic format for DNA sequence data capable of storing data generated by any DNA sequencing technology." []	2025161	\N	\N	EFO	4	EFO	experimental factor	Sequence Read Format (SRF)
EFO:0004155	\N	\N	"FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores." []	EFO:0004155	"FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores." []	66148	\N	\N	EFO	0	EFO	FASTQ format	FASTQ format
EFO:0004103	EFO:0004155	\N	"Sequencing file type permitted in Atlas" []	EFO:0004155	"FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores." []	207360	\N	\N	EFO	1	EFO	seq file type	FASTQ format
IAO:0000098	EFO:0004103	\N	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	EFO:0004155	"FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores." []	560477	\N	\N	EFO	2	EFO	data format specification	FASTQ format
IAO:0000030	IAO:0000098	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004155	"FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores." []	1142326	\N	\N	EFO	3	EFO	information entity	FASTQ format
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004155	"FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores." []	2025162	\N	\N	EFO	4	EFO	experimental factor	FASTQ format
EFO:0004156	\N	\N	"Standard flowgram format (SFF) is a binary file format used to encode results of pyrosequencing from the 454 Life Sciences platform for high-throughput sequencing." []	EFO:0004156	"Standard flowgram format (SFF) is a binary file format used to encode results of pyrosequencing from the 454 Life Sciences platform for high-throughput sequencing." []	66149	\N	\N	EFO	0	EFO	Standard Flowgram Format (SFF)	Standard Flowgram Format (SFF)
EFO:0004103	EFO:0004156	\N	"Sequencing file type permitted in Atlas" []	EFO:0004156	"Standard flowgram format (SFF) is a binary file format used to encode results of pyrosequencing from the 454 Life Sciences platform for high-throughput sequencing." []	207361	\N	\N	EFO	1	EFO	seq file type	Standard Flowgram Format (SFF)
IAO:0000098	EFO:0004103	\N	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	EFO:0004156	"Standard flowgram format (SFF) is a binary file format used to encode results of pyrosequencing from the 454 Life Sciences platform for high-throughput sequencing." []	560478	\N	\N	EFO	2	EFO	data format specification	Standard Flowgram Format (SFF)
IAO:0000030	IAO:0000098	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004156	"Standard flowgram format (SFF) is a binary file format used to encode results of pyrosequencing from the 454 Life Sciences platform for high-throughput sequencing." []	1142327	\N	\N	EFO	3	EFO	information entity	Standard Flowgram Format (SFF)
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004156	"Standard flowgram format (SFF) is a binary file format used to encode results of pyrosequencing from the 454 Life Sciences platform for high-throughput sequencing." []	2025163	\N	\N	EFO	4	EFO	experimental factor	Standard Flowgram Format (SFF)
EFO:0004157	\N	\N	"BAM is the compressed binary version of the Sequence Alignment/Map (SAM) format" []	EFO:0004157	"BAM is the compressed binary version of the Sequence Alignment/Map (SAM) format" []	66150	\N	\N	EFO	0	EFO	BAM format	BAM format
EFO:0004103	EFO:0004157	\N	"Sequencing file type permitted in Atlas" []	EFO:0004157	"BAM is the compressed binary version of the Sequence Alignment/Map (SAM) format" []	207362	\N	\N	EFO	1	EFO	seq file type	BAM format
IAO:0000098	EFO:0004103	\N	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	EFO:0004157	"BAM is the compressed binary version of the Sequence Alignment/Map (SAM) format" []	560479	\N	\N	EFO	2	EFO	data format specification	BAM format
IAO:0000030	IAO:0000098	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004157	"BAM is the compressed binary version of the Sequence Alignment/Map (SAM) format" []	1142328	\N	\N	EFO	3	EFO	information entity	BAM format
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004157	"BAM is the compressed binary version of the Sequence Alignment/Map (SAM) format" []	2025164	\N	\N	EFO	4	EFO	experimental factor	BAM format
EFO:0004158	\N	\N	"" []	EFO:0004158	"" []	66151	\N	\N	EFO	0	EFO	random RNA-Seq across whole transcriptome	random RNA-Seq across whole transcriptome
EFO:0002770	EFO:0004158	\N	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	EFO:0004158	"" []	207363	\N	\N	EFO	1	EFO	transcription profiling by high throughput sequencing	random RNA-Seq across whole transcriptome
EFO:0004102	EFO:0004158	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0004158	"" []	207364	\N	\N	EFO	1	EFO	seq library strategy	random RNA-Seq across whole transcriptome
EFO:0001032	EFO:0002770	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0004158	"" []	560480	\N	\N	EFO	2	EFO	transcription profiling	random RNA-Seq across whole transcriptome
EFO:0001457	EFO:0002770	\N	"An assay with input RNA" []	EFO:0004158	"" []	560481	\N	\N	EFO	2	EFO	RNA assay	random RNA-Seq across whole transcriptome
EFO:0002697	EFO:0002770	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0004158	"" []	560482	\N	\N	EFO	2	EFO	assay by high throughput sequencer	random RNA-Seq across whole transcriptome
EFO:0004120	EFO:0002770	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0004158	"" []	560483	\N	\N	EFO	2	EFO	ArrayExpress experiment type	random RNA-Seq across whole transcriptome
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004158	"" []	560484	\N	\N	EFO	2	EFO	assay	random RNA-Seq across whole transcriptome
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004158	"" []	1142329	\N	\N	EFO	3	EFO	experimental process	random RNA-Seq across whole transcriptome
EFO:0002772	EFO:0001457	\N	"" []	EFO:0004158	"" []	1142330	\N	\N	EFO	3	EFO	assay by molecule	random RNA-Seq across whole transcriptome
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0004158	"" []	1142331	\N	\N	EFO	3	EFO	assay by sequencer	random RNA-Seq across whole transcriptome
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004158	"" []	1142332	\N	\N	EFO	3	EFO	experimental process	random RNA-Seq across whole transcriptome
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004158	"" []	4388005	\N	\N	EFO	6	EFO	experimental process	random RNA-Seq across whole transcriptome
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004158	"" []	5028333	\N	\N	EFO	7	EFO	planned process	random RNA-Seq across whole transcriptome
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004158	"" []	2025166	\N	\N	EFO	4	EFO	assay	random RNA-Seq across whole transcriptome
EFO:0002773	EFO:0003740	\N	"" []	EFO:0004158	"" []	2025167	\N	\N	EFO	4	EFO	assay by instrument	random RNA-Seq across whole transcriptome
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004158	"" []	5817363	\N	\N	EFO	8	EFO	process	random RNA-Seq across whole transcriptome
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004158	"" []	3177947	\N	\N	EFO	5	EFO	assay	random RNA-Seq across whole transcriptome
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004158	"" []	6409745	\N	\N	EFO	9	EFO	experimental factor	random RNA-Seq across whole transcriptome
EFO:0004159	\N	\N	"" []	EFO:0004159	"" []	66152	\N	\N	EFO	0	EFO	SOLiD native csfasta format	SOLiD native csfasta format
EFO:0004103	EFO:0004159	\N	"Sequencing file type permitted in Atlas" []	EFO:0004159	"" []	207365	\N	\N	EFO	1	EFO	seq file type	SOLiD native csfasta format
IAO:0000098	EFO:0004103	\N	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	EFO:0004159	"" []	560485	\N	\N	EFO	2	EFO	data format specification	SOLiD native csfasta format
IAO:0000030	IAO:0000098	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004159	"" []	1142334	\N	\N	EFO	3	EFO	information entity	SOLiD native csfasta format
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004159	"" []	2025168	\N	\N	EFO	4	EFO	experimental factor	SOLiD native csfasta format
EFO:0004160	\N	\N	"" []	EFO:0004160	"" []	66153	\N	\N	EFO	0	EFO	whole chromosome random sequencing	whole chromosome random sequencing
EFO:0002770	EFO:0004160	\N	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	EFO:0004160	"" []	207366	\N	\N	EFO	1	EFO	transcription profiling by high throughput sequencing	whole chromosome random sequencing
EFO:0004102	EFO:0004160	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0004160	"" []	207367	\N	\N	EFO	1	EFO	seq library strategy	whole chromosome random sequencing
EFO:0001032	EFO:0002770	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0004160	"" []	560486	\N	\N	EFO	2	EFO	transcription profiling	whole chromosome random sequencing
EFO:0001457	EFO:0002770	\N	"An assay with input RNA" []	EFO:0004160	"" []	560487	\N	\N	EFO	2	EFO	RNA assay	whole chromosome random sequencing
EFO:0002697	EFO:0002770	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0004160	"" []	560488	\N	\N	EFO	2	EFO	assay by high throughput sequencer	whole chromosome random sequencing
EFO:0004120	EFO:0002770	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0004160	"" []	560489	\N	\N	EFO	2	EFO	ArrayExpress experiment type	whole chromosome random sequencing
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004160	"" []	560490	\N	\N	EFO	2	EFO	assay	whole chromosome random sequencing
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004160	"" []	1142335	\N	\N	EFO	3	EFO	experimental process	whole chromosome random sequencing
EFO:0002772	EFO:0001457	\N	"" []	EFO:0004160	"" []	1142336	\N	\N	EFO	3	EFO	assay by molecule	whole chromosome random sequencing
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0004160	"" []	1142337	\N	\N	EFO	3	EFO	assay by sequencer	whole chromosome random sequencing
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004160	"" []	1142338	\N	\N	EFO	3	EFO	experimental process	whole chromosome random sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004160	"" []	4388007	\N	\N	EFO	6	EFO	experimental process	whole chromosome random sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004160	"" []	5028334	\N	\N	EFO	7	EFO	planned process	whole chromosome random sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004160	"" []	2025170	\N	\N	EFO	4	EFO	assay	whole chromosome random sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0004160	"" []	2025171	\N	\N	EFO	4	EFO	assay by instrument	whole chromosome random sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004160	"" []	5817364	\N	\N	EFO	8	EFO	process	whole chromosome random sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004160	"" []	3177950	\N	\N	EFO	5	EFO	assay	whole chromosome random sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004160	"" []	6409746	\N	\N	EFO	9	EFO	experimental factor	whole chromosome random sequencing
EFO:0004161	\N	\N	"A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage" []	EFO:0004161	"A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage" []	66154	\N	\N	EFO	0	EFO	finishing sequencing assay	finishing sequencing assay
EFO:0003740	EFO:0004161	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0004161	"A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage" []	207368	\N	\N	EFO	1	EFO	assay by sequencer	finishing sequencing assay
EFO:0004102	EFO:0004161	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0004161	"A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage" []	207369	\N	\N	EFO	1	EFO	seq library strategy	finishing sequencing assay
EFO:0002773	EFO:0003740	\N	"" []	EFO:0004161	"A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage" []	560491	\N	\N	EFO	2	EFO	assay by instrument	finishing sequencing assay
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004161	"A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage" []	560492	\N	\N	EFO	2	EFO	assay	finishing sequencing assay
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004161	"A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage" []	1142340	\N	\N	EFO	3	EFO	assay	finishing sequencing assay
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004161	"A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage" []	2025172	\N	\N	EFO	4	EFO	experimental process	finishing sequencing assay
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004161	"A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage" []	2999572	\N	\N	EFO	5	EFO	planned process	finishing sequencing assay
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004161	"A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage" []	4132651	\N	\N	EFO	6	EFO	process	finishing sequencing assay
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004161	"A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage" []	5180973	\N	\N	EFO	7	EFO	experimental factor	finishing sequencing assay
EFO:0004162	\N	\N	"" []	EFO:0004162	"" []	66155	\N	\N	EFO	0	EFO	CTS (Concatenated Tag Sequencing)	CTS (Concatenated Tag Sequencing)
EFO:0003740	EFO:0004162	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0004162	"" []	207370	\N	\N	EFO	1	EFO	assay by sequencer	CTS (Concatenated Tag Sequencing)
EFO:0004102	EFO:0004162	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0004162	"" []	207371	\N	\N	EFO	1	EFO	seq library strategy	CTS (Concatenated Tag Sequencing)
EFO:0002773	EFO:0003740	\N	"" []	EFO:0004162	"" []	560493	\N	\N	EFO	2	EFO	assay by instrument	CTS (Concatenated Tag Sequencing)
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004162	"" []	560494	\N	\N	EFO	2	EFO	assay	CTS (Concatenated Tag Sequencing)
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004162	"" []	1142342	\N	\N	EFO	3	EFO	assay	CTS (Concatenated Tag Sequencing)
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004162	"" []	2025174	\N	\N	EFO	4	EFO	experimental process	CTS (Concatenated Tag Sequencing)
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004162	"" []	2999573	\N	\N	EFO	5	EFO	planned process	CTS (Concatenated Tag Sequencing)
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004162	"" []	4132652	\N	\N	EFO	6	EFO	process	CTS (Concatenated Tag Sequencing)
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004162	"" []	5180974	\N	\N	EFO	7	EFO	experimental factor	CTS (Concatenated Tag Sequencing)
EFO:0004163	\N	\N	"" []	EFO:0004163	"" []	66156	\N	\N	EFO	0	EFO	SOLiD native qual format	SOLiD native qual format
EFO:0004103	EFO:0004163	\N	"Sequencing file type permitted in Atlas" []	EFO:0004163	"" []	207372	\N	\N	EFO	1	EFO	seq file type	SOLiD native qual format
IAO:0000098	EFO:0004103	\N	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	EFO:0004163	"" []	560495	\N	\N	EFO	2	EFO	data format specification	SOLiD native qual format
IAO:0000030	IAO:0000098	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004163	"" []	1142344	\N	\N	EFO	3	EFO	information entity	SOLiD native qual format
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004163	"" []	2025176	\N	\N	EFO	4	EFO	experimental factor	SOLiD native qual format
EFO:0004164	\N	\N	"" []	EFO:0004164	"" []	66157	\N	\N	EFO	0	EFO	Illumina native qseq format	Illumina native qseq format
EFO:0004103	EFO:0004164	\N	"Sequencing file type permitted in Atlas" []	EFO:0004164	"" []	207373	\N	\N	EFO	1	EFO	seq file type	Illumina native qseq format
IAO:0000098	EFO:0004103	\N	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	EFO:0004164	"" []	560496	\N	\N	EFO	2	EFO	data format specification	Illumina native qseq format
IAO:0000030	IAO:0000098	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004164	"" []	1142345	\N	\N	EFO	3	EFO	information entity	Illumina native qseq format
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004164	"" []	2025177	\N	\N	EFO	4	EFO	experimental factor	Illumina native qseq format
EFO:0004165	\N	\N	"" []	EFO:0004165	"" []	66158	\N	\N	EFO	0	EFO	Illumina native scarf format	Illumina native scarf format
EFO:0004103	EFO:0004165	\N	"Sequencing file type permitted in Atlas" []	EFO:0004165	"" []	207374	\N	\N	EFO	1	EFO	seq file type	Illumina native scarf format
IAO:0000098	EFO:0004103	\N	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	EFO:0004165	"" []	560497	\N	\N	EFO	2	EFO	data format specification	Illumina native scarf format
IAO:0000030	IAO:0000098	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004165	"" []	1142346	\N	\N	EFO	3	EFO	information entity	Illumina native scarf format
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004165	"" []	2025178	\N	\N	EFO	4	EFO	experimental factor	Illumina native scarf format
EFO:0004166	\N	\N	"" []	EFO:0004166	"" []	66159	\N	\N	EFO	0	EFO	Illumina native fastq format	Illumina native fastq format
EFO:0004103	EFO:0004166	\N	"Sequencing file type permitted in Atlas" []	EFO:0004166	"" []	207375	\N	\N	EFO	1	EFO	seq file type	Illumina native fastq format
IAO:0000098	EFO:0004103	\N	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	EFO:0004166	"" []	560498	\N	\N	EFO	2	EFO	data format specification	Illumina native fastq format
IAO:0000030	IAO:0000098	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004166	"" []	1142347	\N	\N	EFO	3	EFO	information entity	Illumina native fastq format
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004166	"" []	2025179	\N	\N	EFO	4	EFO	experimental factor	Illumina native fastq format
EFO:0004167	\N	\N	"RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers." []	EFO:0004167	"RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers." []	66160	\N	\N	EFO	0	EFO	RAPD	RAPD
EFO:0004105	EFO:0004167	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004167	"RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers." []	207376	\N	\N	EFO	1	EFO	seq library selection	RAPD
EFO:0004184	EFO:0004167	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004167	"RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers." []	207377	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	RAPD
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004167	"RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers." []	560499	\N	\N	EFO	2	EFO	experimental process	RAPD
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004167	"RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers." []	560500	\N	\N	EFO	2	EFO	protocol	RAPD
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004167	"RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers." []	1142348	\N	\N	EFO	3	EFO	planned process	RAPD
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004167	"RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers." []	1142349	\N	\N	EFO	3	EFO	information entity	RAPD
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004167	"RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers." []	2025180	\N	\N	EFO	4	EFO	process	RAPD
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004167	"RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers." []	2025181	\N	\N	EFO	4	EFO	experimental factor	RAPD
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004167	"RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers." []	3177953	\N	\N	EFO	5	EFO	experimental factor	RAPD
EFO:0004168	\N	\N	"" []	EFO:0004168	"" []	66161	\N	\N	EFO	0	EFO	hypomethylated partial restriction digest	hypomethylated partial restriction digest
EFO:0004105	EFO:0004168	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004168	"" []	207378	\N	\N	EFO	1	EFO	seq library selection	hypomethylated partial restriction digest
EFO:0004184	EFO:0004168	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004168	"" []	207379	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	hypomethylated partial restriction digest
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004168	"" []	560501	\N	\N	EFO	2	EFO	experimental process	hypomethylated partial restriction digest
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004168	"" []	560502	\N	\N	EFO	2	EFO	protocol	hypomethylated partial restriction digest
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004168	"" []	1142350	\N	\N	EFO	3	EFO	planned process	hypomethylated partial restriction digest
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004168	"" []	1142351	\N	\N	EFO	3	EFO	information entity	hypomethylated partial restriction digest
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004168	"" []	2025182	\N	\N	EFO	4	EFO	process	hypomethylated partial restriction digest
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004168	"" []	2025183	\N	\N	EFO	4	EFO	experimental factor	hypomethylated partial restriction digest
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004168	"" []	3177954	\N	\N	EFO	5	EFO	experimental factor	hypomethylated partial restriction digest
EFO:0004169	\N	\N	"Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome" []	EFO:0004169	"Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome" []	66162	\N	\N	EFO	0	EFO	methyl filtration	methyl filtration
EFO:0004105	EFO:0004169	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004169	"Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome" []	207380	\N	\N	EFO	1	EFO	seq library selection	methyl filtration
EFO:0004184	EFO:0004169	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004169	"Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome" []	207381	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	methyl filtration
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004169	"Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome" []	560503	\N	\N	EFO	2	EFO	experimental process	methyl filtration
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004169	"Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome" []	560504	\N	\N	EFO	2	EFO	protocol	methyl filtration
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004169	"Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome" []	1142352	\N	\N	EFO	3	EFO	planned process	methyl filtration
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004169	"Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome" []	1142353	\N	\N	EFO	3	EFO	information entity	methyl filtration
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004169	"Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome" []	2025184	\N	\N	EFO	4	EFO	process	methyl filtration
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004169	"Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome" []	2025185	\N	\N	EFO	4	EFO	experimental factor	methyl filtration
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004169	"Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome" []	3177955	\N	\N	EFO	5	EFO	experimental factor	methyl filtration
EFO:0004170	\N	\N	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	EFO:0004170	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	66163	\N	\N	EFO	0	EFO	nucleic acid sequencing protocol	nucleic acid sequencing protocol
EFO:0004105	EFO:0004170	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004170	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	207382	\N	\N	EFO	1	EFO	seq library selection	nucleic acid sequencing protocol
OBI:0000272	EFO:0004170	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004170	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	207383	\N	\N	EFO	1	EFO	protocol	nucleic acid sequencing protocol
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004170	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	560505	\N	\N	EFO	2	EFO	experimental process	nucleic acid sequencing protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004170	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	560506	\N	\N	EFO	2	EFO	information entity	nucleic acid sequencing protocol
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004170	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	1142354	\N	\N	EFO	3	EFO	planned process	nucleic acid sequencing protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004170	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	1142355	\N	\N	EFO	3	EFO	experimental factor	nucleic acid sequencing protocol
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004170	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	2025186	\N	\N	EFO	4	EFO	process	nucleic acid sequencing protocol
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004170	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	3177956	\N	\N	EFO	5	EFO	experimental factor	nucleic acid sequencing protocol
EFO:0004171	\N	\N	"A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other." []	EFO:0004171	"A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other." []	66164	\N	\N	EFO	0	EFO	cot filtration for single or low copy genomic DNA	cot filtration for single or low copy genomic DNA
EFO:0004170	EFO:0004171	\N	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	EFO:0004171	"A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other." []	207384	\N	\N	EFO	1	EFO	nucleic acid sequencing protocol	cot filtration for single or low copy genomic DNA
EFO:0004105	EFO:0004170	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004171	"A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other." []	560507	\N	\N	EFO	2	EFO	seq library selection	cot filtration for single or low copy genomic DNA
OBI:0000272	EFO:0004170	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004171	"A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other." []	560508	\N	\N	EFO	2	EFO	protocol	cot filtration for single or low copy genomic DNA
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004171	"A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other." []	1142356	\N	\N	EFO	3	EFO	experimental process	cot filtration for single or low copy genomic DNA
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004171	"A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other." []	1142357	\N	\N	EFO	3	EFO	information entity	cot filtration for single or low copy genomic DNA
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004171	"A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other." []	2025187	\N	\N	EFO	4	EFO	planned process	cot filtration for single or low copy genomic DNA
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004171	"A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other." []	2025188	\N	\N	EFO	4	EFO	experimental factor	cot filtration for single or low copy genomic DNA
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004171	"A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other." []	3177957	\N	\N	EFO	5	EFO	process	cot filtration for single or low copy genomic DNA
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004171	"A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other." []	4388010	\N	\N	EFO	6	EFO	experimental factor	cot filtration for single or low copy genomic DNA
EFO:0004172	\N	\N	"A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other." []	EFO:0004172	"A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other." []	66165	\N	\N	EFO	0	EFO	cot filtration for moderately repetitive genomic DNA	cot filtration for moderately repetitive genomic DNA
EFO:0004170	EFO:0004172	\N	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	EFO:0004172	"A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other." []	207385	\N	\N	EFO	1	EFO	nucleic acid sequencing protocol	cot filtration for moderately repetitive genomic DNA
EFO:0004105	EFO:0004170	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004172	"A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other." []	560509	\N	\N	EFO	2	EFO	seq library selection	cot filtration for moderately repetitive genomic DNA
OBI:0000272	EFO:0004170	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004172	"A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other." []	560510	\N	\N	EFO	2	EFO	protocol	cot filtration for moderately repetitive genomic DNA
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004172	"A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other." []	1142358	\N	\N	EFO	3	EFO	experimental process	cot filtration for moderately repetitive genomic DNA
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004172	"A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other." []	1142359	\N	\N	EFO	3	EFO	information entity	cot filtration for moderately repetitive genomic DNA
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004172	"A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other." []	2025189	\N	\N	EFO	4	EFO	planned process	cot filtration for moderately repetitive genomic DNA
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004172	"A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other." []	2025190	\N	\N	EFO	4	EFO	experimental factor	cot filtration for moderately repetitive genomic DNA
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004172	"A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other." []	3177958	\N	\N	EFO	5	EFO	process	cot filtration for moderately repetitive genomic DNA
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004172	"A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other." []	4388011	\N	\N	EFO	6	EFO	experimental factor	cot filtration for moderately repetitive genomic DNA
EFO:0004173	\N	\N	"" []	EFO:0004173	"" []	66166	\N	\N	EFO	0	EFO	cot filtration for highly repetitive genomic DNA	cot filtration for highly repetitive genomic DNA
EFO:0004170	EFO:0004173	\N	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	EFO:0004173	"" []	207386	\N	\N	EFO	1	EFO	nucleic acid sequencing protocol	cot filtration for highly repetitive genomic DNA
EFO:0004105	EFO:0004170	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004173	"" []	560511	\N	\N	EFO	2	EFO	seq library selection	cot filtration for highly repetitive genomic DNA
OBI:0000272	EFO:0004170	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004173	"" []	560512	\N	\N	EFO	2	EFO	protocol	cot filtration for highly repetitive genomic DNA
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004173	"" []	1142360	\N	\N	EFO	3	EFO	experimental process	cot filtration for highly repetitive genomic DNA
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004173	"" []	1142361	\N	\N	EFO	3	EFO	information entity	cot filtration for highly repetitive genomic DNA
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004173	"" []	2025191	\N	\N	EFO	4	EFO	planned process	cot filtration for highly repetitive genomic DNA
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004173	"" []	2025192	\N	\N	EFO	4	EFO	experimental factor	cot filtration for highly repetitive genomic DNA
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004173	"" []	3177959	\N	\N	EFO	5	EFO	process	cot filtration for highly repetitive genomic DNA
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004173	"" []	4388012	\N	\N	EFO	6	EFO	experimental factor	cot filtration for highly repetitive genomic DNA
EFO:0004174	\N	\N	"" []	EFO:0004174	"" []	66167	\N	\N	EFO	0	EFO	cot filtration for theoretical single copy genomic DNA	cot filtration for theoretical single copy genomic DNA
EFO:0004170	EFO:0004174	\N	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	EFO:0004174	"" []	207387	\N	\N	EFO	1	EFO	nucleic acid sequencing protocol	cot filtration for theoretical single copy genomic DNA
EFO:0004105	EFO:0004170	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004174	"" []	560513	\N	\N	EFO	2	EFO	seq library selection	cot filtration for theoretical single copy genomic DNA
OBI:0000272	EFO:0004170	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004174	"" []	560514	\N	\N	EFO	2	EFO	protocol	cot filtration for theoretical single copy genomic DNA
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004174	"" []	1142362	\N	\N	EFO	3	EFO	experimental process	cot filtration for theoretical single copy genomic DNA
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004174	"" []	1142363	\N	\N	EFO	3	EFO	information entity	cot filtration for theoretical single copy genomic DNA
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004174	"" []	2025193	\N	\N	EFO	4	EFO	planned process	cot filtration for theoretical single copy genomic DNA
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004174	"" []	2025194	\N	\N	EFO	4	EFO	experimental factor	cot filtration for theoretical single copy genomic DNA
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004174	"" []	3177960	\N	\N	EFO	5	EFO	process	cot filtration for theoretical single copy genomic DNA
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004174	"" []	4388013	\N	\N	EFO	6	EFO	experimental factor	cot filtration for theoretical single copy genomic DNA
EFO:0004175	\N	\N	"Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions." []	EFO:0004175	"Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions." []	66168	\N	\N	EFO	0	EFO	Methylation Spanning Linker Library (MSLL) processing	Methylation Spanning Linker Library (MSLL) processing
EFO:0004105	EFO:0004175	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004175	"Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions." []	207388	\N	\N	EFO	1	EFO	seq library selection	Methylation Spanning Linker Library (MSLL) processing
EFO:0004184	EFO:0004175	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004175	"Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions." []	207389	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	Methylation Spanning Linker Library (MSLL) processing
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004175	"Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions." []	560515	\N	\N	EFO	2	EFO	experimental process	Methylation Spanning Linker Library (MSLL) processing
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004175	"Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions." []	560516	\N	\N	EFO	2	EFO	protocol	Methylation Spanning Linker Library (MSLL) processing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004175	"Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions." []	1142364	\N	\N	EFO	3	EFO	planned process	Methylation Spanning Linker Library (MSLL) processing
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004175	"Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions." []	1142365	\N	\N	EFO	3	EFO	information entity	Methylation Spanning Linker Library (MSLL) processing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004175	"Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions." []	2025195	\N	\N	EFO	4	EFO	process	Methylation Spanning Linker Library (MSLL) processing
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004175	"Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions." []	2025196	\N	\N	EFO	4	EFO	experimental factor	Methylation Spanning Linker Library (MSLL) processing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004175	"Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions." []	3177961	\N	\N	EFO	5	EFO	experimental factor	Methylation Spanning Linker Library (MSLL) processing
EFO:0004176	\N	\N	"Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells." []	EFO:0004176	"Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells." []	66169	\N	\N	EFO	0	EFO	ChIP	ChIP
EFO:0004105	EFO:0004176	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004176	"Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells." []	207390	\N	\N	EFO	1	EFO	seq library selection	ChIP
EFO:0004184	EFO:0004176	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004176	"Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells." []	207391	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	ChIP
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004176	"Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells." []	560517	\N	\N	EFO	2	EFO	experimental process	ChIP
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004176	"Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells." []	560518	\N	\N	EFO	2	EFO	protocol	ChIP
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004176	"Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells." []	1142366	\N	\N	EFO	3	EFO	planned process	ChIP
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004176	"Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells." []	1142367	\N	\N	EFO	3	EFO	information entity	ChIP
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004176	"Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells." []	2025197	\N	\N	EFO	4	EFO	process	ChIP
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004176	"Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells." []	2025198	\N	\N	EFO	4	EFO	experimental factor	ChIP
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004176	"Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells." []	3177962	\N	\N	EFO	5	EFO	experimental factor	ChIP
EFO:0004177	\N	\N	"Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." []	EFO:0004177	"Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." []	66170	\N	\N	EFO	0	EFO	Micrococcal Nuclease digestion	Micrococcal Nuclease digestion
EFO:0004186	EFO:0004177	\N	"Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." []	EFO:0004177	"Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." []	207392	\N	\N	EFO	1	EFO	Deoxyribonuclease digestion	Micrococcal Nuclease digestion
EFO:0004105	EFO:0004186	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004177	"Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." []	560519	\N	\N	EFO	2	EFO	seq library selection	Micrococcal Nuclease digestion
EFO:0004184	EFO:0004186	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004177	"Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." []	560520	\N	\N	EFO	2	EFO	nucleic acid library construction protocol	Micrococcal Nuclease digestion
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004177	"Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." []	1142368	\N	\N	EFO	3	EFO	experimental process	Micrococcal Nuclease digestion
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004177	"Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." []	1142369	\N	\N	EFO	3	EFO	protocol	Micrococcal Nuclease digestion
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004177	"Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." []	2025199	\N	\N	EFO	4	EFO	planned process	Micrococcal Nuclease digestion
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004177	"Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." []	2025200	\N	\N	EFO	4	EFO	information entity	Micrococcal Nuclease digestion
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004177	"Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." []	3177963	\N	\N	EFO	5	EFO	process	Micrococcal Nuclease digestion
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004177	"Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." []	3177964	\N	\N	EFO	5	EFO	experimental factor	Micrococcal Nuclease digestion
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004177	"Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA." []	4388014	\N	\N	EFO	6	EFO	experimental factor	Micrococcal Nuclease digestion
EFO:0004178	\N	\N	"An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling." []	EFO:0004178	"An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling." []	66171	\N	\N	EFO	0	EFO	reduced representation preparation	reduced representation preparation
EFO:0004105	EFO:0004178	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004178	"An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling." []	207393	\N	\N	EFO	1	EFO	seq library selection	reduced representation preparation
EFO:0004184	EFO:0004178	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004178	"An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling." []	207394	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	reduced representation preparation
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004178	"An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling." []	560521	\N	\N	EFO	2	EFO	experimental process	reduced representation preparation
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004178	"An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling." []	560522	\N	\N	EFO	2	EFO	protocol	reduced representation preparation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004178	"An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling." []	1142370	\N	\N	EFO	3	EFO	planned process	reduced representation preparation
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004178	"An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling." []	1142371	\N	\N	EFO	3	EFO	information entity	reduced representation preparation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004178	"An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling." []	2025201	\N	\N	EFO	4	EFO	process	reduced representation preparation
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004178	"An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling." []	2025202	\N	\N	EFO	4	EFO	experimental factor	reduced representation preparation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004178	"An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling." []	3177965	\N	\N	EFO	5	EFO	experimental factor	reduced representation preparation
EFO:0004179	\N	\N	"A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction." []	EFO:0004179	"A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction." []	66172	\N	\N	EFO	0	EFO	restriction digest	restriction digest
EFO:0004105	EFO:0004179	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004179	"A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction." []	207395	\N	\N	EFO	1	EFO	seq library selection	restriction digest
EFO:0004184	EFO:0004179	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004179	"A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction." []	207396	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	restriction digest
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004179	"A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction." []	560523	\N	\N	EFO	2	EFO	experimental process	restriction digest
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004179	"A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction." []	560524	\N	\N	EFO	2	EFO	protocol	restriction digest
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004179	"A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction." []	1142372	\N	\N	EFO	3	EFO	planned process	restriction digest
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004179	"A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction." []	1142373	\N	\N	EFO	3	EFO	information entity	restriction digest
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004179	"A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction." []	2025203	\N	\N	EFO	4	EFO	process	restriction digest
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004179	"A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction." []	2025204	\N	\N	EFO	4	EFO	experimental factor	restriction digest
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004179	"A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction." []	3177966	\N	\N	EFO	5	EFO	experimental factor	restriction digest
EFO:0004180	\N	\N	"An experimental process for selecting DNA which uses 5-methylcytidine antibody." []	EFO:0004180	"An experimental process for selecting DNA which uses 5-methylcytidine antibody." []	66173	\N	\N	EFO	0	EFO	DNA selection through 5-methylcytidine antibody	DNA selection through 5-methylcytidine antibody
EFO:0004105	EFO:0004180	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004180	"An experimental process for selecting DNA which uses 5-methylcytidine antibody." []	207397	\N	\N	EFO	1	EFO	seq library selection	DNA selection through 5-methylcytidine antibody
EFO:0004184	EFO:0004180	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004180	"An experimental process for selecting DNA which uses 5-methylcytidine antibody." []	207398	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	DNA selection through 5-methylcytidine antibody
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004180	"An experimental process for selecting DNA which uses 5-methylcytidine antibody." []	560525	\N	\N	EFO	2	EFO	experimental process	DNA selection through 5-methylcytidine antibody
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004180	"An experimental process for selecting DNA which uses 5-methylcytidine antibody." []	560526	\N	\N	EFO	2	EFO	protocol	DNA selection through 5-methylcytidine antibody
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004180	"An experimental process for selecting DNA which uses 5-methylcytidine antibody." []	1142374	\N	\N	EFO	3	EFO	planned process	DNA selection through 5-methylcytidine antibody
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004180	"An experimental process for selecting DNA which uses 5-methylcytidine antibody." []	1142375	\N	\N	EFO	3	EFO	information entity	DNA selection through 5-methylcytidine antibody
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004180	"An experimental process for selecting DNA which uses 5-methylcytidine antibody." []	2025205	\N	\N	EFO	4	EFO	process	DNA selection through 5-methylcytidine antibody
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004180	"An experimental process for selecting DNA which uses 5-methylcytidine antibody." []	2025206	\N	\N	EFO	4	EFO	experimental factor	DNA selection through 5-methylcytidine antibody
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004180	"An experimental process for selecting DNA which uses 5-methylcytidine antibody." []	3177967	\N	\N	EFO	5	EFO	experimental factor	DNA selection through 5-methylcytidine antibody
EFO:0004181	\N	\N	"Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5? ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP)." []	EFO:0004181	"Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5? ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP)." []	66174	\N	\N	EFO	0	EFO	cap analysis gene expression	cap analysis gene expression
EFO:0004105	EFO:0004181	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004181	"Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5? ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP)." []	207399	\N	\N	EFO	1	EFO	seq library selection	cap analysis gene expression
EFO:0004184	EFO:0004181	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004181	"Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5? ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP)." []	207400	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	cap analysis gene expression
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004181	"Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5? ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP)." []	560527	\N	\N	EFO	2	EFO	experimental process	cap analysis gene expression
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004181	"Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5? ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP)." []	560528	\N	\N	EFO	2	EFO	protocol	cap analysis gene expression
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004181	"Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5? ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP)." []	1142376	\N	\N	EFO	3	EFO	planned process	cap analysis gene expression
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004181	"Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5? ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP)." []	1142377	\N	\N	EFO	3	EFO	information entity	cap analysis gene expression
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004181	"Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5? ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP)." []	2025207	\N	\N	EFO	4	EFO	process	cap analysis gene expression
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004181	"Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5? ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP)." []	2025208	\N	\N	EFO	4	EFO	experimental factor	cap analysis gene expression
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004181	"Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5? ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP)." []	3177968	\N	\N	EFO	5	EFO	experimental factor	cap analysis gene expression
EFO:0004182	\N	\N	"Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced." []	EFO:0004182	"Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced." []	66175	\N	\N	EFO	0	EFO	Rapid Amplification of cDNA Ends	Rapid Amplification of cDNA Ends
EFO:0004105	EFO:0004182	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004182	"Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced." []	207401	\N	\N	EFO	1	EFO	seq library selection	Rapid Amplification of cDNA Ends
EFO:0004184	EFO:0004182	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004182	"Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced." []	207402	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	Rapid Amplification of cDNA Ends
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004182	"Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced." []	560529	\N	\N	EFO	2	EFO	experimental process	Rapid Amplification of cDNA Ends
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004182	"Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced." []	560530	\N	\N	EFO	2	EFO	protocol	Rapid Amplification of cDNA Ends
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004182	"Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced." []	1142378	\N	\N	EFO	3	EFO	planned process	Rapid Amplification of cDNA Ends
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004182	"Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced." []	1142379	\N	\N	EFO	3	EFO	information entity	Rapid Amplification of cDNA Ends
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004182	"Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced." []	2025209	\N	\N	EFO	4	EFO	process	Rapid Amplification of cDNA Ends
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004182	"Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced." []	2025210	\N	\N	EFO	4	EFO	experimental factor	Rapid Amplification of cDNA Ends
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004182	"Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced." []	3177969	\N	\N	EFO	5	EFO	experimental factor	Rapid Amplification of cDNA Ends
EFO:0004183	\N	\N	"Size fractionation is a process of selecting targets based on their size." []	EFO:0004183	"Size fractionation is a process of selecting targets based on their size." []	66176	\N	\N	EFO	0	EFO	size fractionation	size fractionation
EFO:0004105	EFO:0004183	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004183	"Size fractionation is a process of selecting targets based on their size." []	207403	\N	\N	EFO	1	EFO	seq library selection	size fractionation
EFO:0004184	EFO:0004183	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004183	"Size fractionation is a process of selecting targets based on their size." []	207404	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	size fractionation
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004183	"Size fractionation is a process of selecting targets based on their size." []	560531	\N	\N	EFO	2	EFO	experimental process	size fractionation
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004183	"Size fractionation is a process of selecting targets based on their size." []	560532	\N	\N	EFO	2	EFO	protocol	size fractionation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004183	"Size fractionation is a process of selecting targets based on their size." []	1142380	\N	\N	EFO	3	EFO	planned process	size fractionation
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004183	"Size fractionation is a process of selecting targets based on their size." []	1142381	\N	\N	EFO	3	EFO	information entity	size fractionation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004183	"Size fractionation is a process of selecting targets based on their size." []	2025211	\N	\N	EFO	4	EFO	process	size fractionation
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004183	"Size fractionation is a process of selecting targets based on their size." []	2025212	\N	\N	EFO	4	EFO	experimental factor	size fractionation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004183	"Size fractionation is a process of selecting targets based on their size." []	3177970	\N	\N	EFO	5	EFO	experimental factor	size fractionation
EFO:0004184	\N	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004184	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	66177	\N	\N	EFO	0	EFO	nucleic acid library construction protocol	nucleic acid library construction protocol
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004184	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	207405	\N	\N	EFO	1	EFO	protocol	nucleic acid library construction protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004184	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	560533	\N	\N	EFO	2	EFO	information entity	nucleic acid library construction protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004184	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	1142382	\N	\N	EFO	3	EFO	experimental factor	nucleic acid library construction protocol
EFO:0004185	\N	\N	"The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular.\\n\\nMethylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers.\\n\\nTo evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement  (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 17651774)." []	EFO:0004185	"The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular.\\n\\nMethylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers.\\n\\nTo evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement  (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 17651774)." []	66178	\N	\N	EFO	0	EFO	enrichment of methylated DNA	enrichment of methylated DNA
EFO:0004105	EFO:0004185	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004185	"The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular.\\n\\nMethylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers.\\n\\nTo evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement  (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 17651774)." []	207406	\N	\N	EFO	1	EFO	seq library selection	enrichment of methylated DNA
EFO:0004184	EFO:0004185	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004185	"The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular.\\n\\nMethylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers.\\n\\nTo evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement  (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 17651774)." []	207407	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	enrichment of methylated DNA
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004185	"The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular.\\n\\nMethylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers.\\n\\nTo evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement  (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 17651774)." []	560534	\N	\N	EFO	2	EFO	experimental process	enrichment of methylated DNA
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004185	"The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular.\\n\\nMethylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers.\\n\\nTo evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement  (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 17651774)." []	560535	\N	\N	EFO	2	EFO	protocol	enrichment of methylated DNA
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004185	"The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular.\\n\\nMethylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers.\\n\\nTo evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement  (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 17651774)." []	1142383	\N	\N	EFO	3	EFO	planned process	enrichment of methylated DNA
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004185	"The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular.\\n\\nMethylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers.\\n\\nTo evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement  (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 17651774)." []	1142384	\N	\N	EFO	3	EFO	information entity	enrichment of methylated DNA
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004185	"The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular.\\n\\nMethylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers.\\n\\nTo evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement  (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 17651774)." []	2025213	\N	\N	EFO	4	EFO	process	enrichment of methylated DNA
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004185	"The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular.\\n\\nMethylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers.\\n\\nTo evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement  (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 17651774)." []	2025214	\N	\N	EFO	4	EFO	experimental factor	enrichment of methylated DNA
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004185	"The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular.\\n\\nMethylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers.\\n\\nTo evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement  (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 17651774)." []	3177971	\N	\N	EFO	5	EFO	experimental factor	enrichment of methylated DNA
EFO:0004186	\N	\N	"Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." []	EFO:0004186	"Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." []	66179	\N	\N	EFO	0	EFO	Deoxyribonuclease digestion	Deoxyribonuclease digestion
EFO:0004105	EFO:0004186	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004186	"Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." []	207408	\N	\N	EFO	1	EFO	seq library selection	Deoxyribonuclease digestion
EFO:0004184	EFO:0004186	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004186	"Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." []	207409	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	Deoxyribonuclease digestion
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004186	"Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." []	560536	\N	\N	EFO	2	EFO	experimental process	Deoxyribonuclease digestion
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004186	"Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." []	560537	\N	\N	EFO	2	EFO	protocol	Deoxyribonuclease digestion
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004186	"Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." []	1142385	\N	\N	EFO	3	EFO	planned process	Deoxyribonuclease digestion
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004186	"Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." []	1142386	\N	\N	EFO	3	EFO	information entity	Deoxyribonuclease digestion
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004186	"Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." []	2025215	\N	\N	EFO	4	EFO	process	Deoxyribonuclease digestion
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004186	"Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." []	2025216	\N	\N	EFO	4	EFO	experimental factor	Deoxyribonuclease digestion
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004186	"Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA." []	3177972	\N	\N	EFO	5	EFO	experimental factor	Deoxyribonuclease digestion
EFO:0004187	\N	\N	"cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase." []	EFO:0004187	"cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase." []	66180	\N	\N	EFO	0	EFO	cDNA library construction	cDNA library construction
EFO:0004105	EFO:0004187	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004187	"cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase." []	207410	\N	\N	EFO	1	EFO	seq library selection	cDNA library construction
EFO:0004184	EFO:0004187	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004187	"cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase." []	207411	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	cDNA library construction
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004187	"cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase." []	560538	\N	\N	EFO	2	EFO	experimental process	cDNA library construction
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004187	"cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase." []	560539	\N	\N	EFO	2	EFO	protocol	cDNA library construction
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004187	"cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase." []	1142387	\N	\N	EFO	3	EFO	planned process	cDNA library construction
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004187	"cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase." []	1142388	\N	\N	EFO	3	EFO	information entity	cDNA library construction
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004187	"cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase." []	2025217	\N	\N	EFO	4	EFO	process	cDNA library construction
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004187	"cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase." []	2025218	\N	\N	EFO	4	EFO	experimental factor	cDNA library construction
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004187	"cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase." []	3177973	\N	\N	EFO	5	EFO	experimental factor	cDNA library construction
EFO:0004188	\N	\N	"The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution." []	EFO:0004188	"The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution." []	66181	\N	\N	EFO	0	EFO	hybrid selection of targets	hybrid selection of targets
EFO:0004105	EFO:0004188	\N	"Sequencing library selection permitted in Atlas" []	EFO:0004188	"The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution." []	207412	\N	\N	EFO	1	EFO	seq library selection	hybrid selection of targets
EFO:0004184	EFO:0004188	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004188	"The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution." []	207413	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	hybrid selection of targets
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004188	"The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution." []	560540	\N	\N	EFO	2	EFO	experimental process	hybrid selection of targets
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004188	"The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution." []	560541	\N	\N	EFO	2	EFO	protocol	hybrid selection of targets
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004188	"The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution." []	1142389	\N	\N	EFO	3	EFO	planned process	hybrid selection of targets
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004188	"The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution." []	1142390	\N	\N	EFO	3	EFO	information entity	hybrid selection of targets
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004188	"The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution." []	2025219	\N	\N	EFO	4	EFO	process	hybrid selection of targets
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004188	"The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution." []	2025220	\N	\N	EFO	4	EFO	experimental factor	hybrid selection of targets
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004188	"The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution." []	3177974	\N	\N	EFO	5	EFO	experimental factor	hybrid selection of targets
EFO:0004189	\N	\N	"DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range.\\n \\nFor instance, physical shearing can be done by probe sonication and nebulization." []	EFO:0004189	"DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range.\\n \\nFor instance, physical shearing can be done by probe sonication and nebulization." []	66182	\N	\N	EFO	0	EFO	DNA shearing	DNA shearing
EFO:0002694	EFO:0004189	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004189	"DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range.\\n \\nFor instance, physical shearing can be done by probe sonication and nebulization." []	207414	\N	\N	EFO	1	EFO	experimental process	DNA shearing
EFO:0004184	EFO:0004189	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0004189	"DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range.\\n \\nFor instance, physical shearing can be done by probe sonication and nebulization." []	207415	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	DNA shearing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004189	"DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range.\\n \\nFor instance, physical shearing can be done by probe sonication and nebulization." []	560542	\N	\N	EFO	2	EFO	planned process	DNA shearing
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004189	"DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range.\\n \\nFor instance, physical shearing can be done by probe sonication and nebulization." []	560543	\N	\N	EFO	2	EFO	protocol	DNA shearing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004189	"DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range.\\n \\nFor instance, physical shearing can be done by probe sonication and nebulization." []	1142391	\N	\N	EFO	3	EFO	process	DNA shearing
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004189	"DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range.\\n \\nFor instance, physical shearing can be done by probe sonication and nebulization." []	1142392	\N	\N	EFO	3	EFO	information entity	DNA shearing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004189	"DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range.\\n \\nFor instance, physical shearing can be done by probe sonication and nebulization." []	2025221	\N	\N	EFO	4	EFO	experimental factor	DNA shearing
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004189	"DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range.\\n \\nFor instance, physical shearing can be done by probe sonication and nebulization." []	2025222	\N	\N	EFO	4	EFO	experimental factor	DNA shearing
EFO:0004190	\N	\N	"Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." []	EFO:0004190	"Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." []	66183	\N	\N	EFO	0	EFO	open-angle glaucoma	open-angle glaucoma
EFO:0000516	EFO:0004190	\N	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	EFO:0004190	"Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." []	207416	\N	\N	EFO	1	EFO	glaucoma	open-angle glaucoma
EFO:0001058	EFO:0000516	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0004190	"Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." []	560544	\N	\N	EFO	2	EFO	sensory system disease	open-angle glaucoma
EFO:0003966	EFO:0000516	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0004190	"Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." []	560545	\N	\N	EFO	2	EFO	eye disease	open-angle glaucoma
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004190	"Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." []	1142393	\N	\N	EFO	3	EFO	nervous system disease	open-angle glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004190	"Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." []	1142394	\N	\N	EFO	3	EFO	disease	open-angle glaucoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004190	"Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." []	2025223	\N	\N	EFO	4	EFO	disease	open-angle glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004190	"Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." []	3177975	\N	\N	EFO	5	EFO	disposition	open-angle glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004190	"Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." []	4132653	\N	\N	EFO	6	EFO	material property	open-angle glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004190	"Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." []	5180975	\N	\N	EFO	7	EFO	experimental factor	open-angle glaucoma
EFO:0004191	\N	\N	"" []	EFO:0004191	"" []	66184	\N	\N	EFO	0	EFO	androgenetic alopecia	androgenetic alopecia
Orphanet:79364	EFO:0004191	\N	"" []	EFO:0004191	"" []	207417	\N	\N	EFO	1	EFO	Alopecia	androgenetic alopecia
Orphanet:183450	Orphanet:79364	\N	"" []	EFO:0004191	"" []	560546	\N	\N	EFO	2	EFO	Genetic hair anomaly	androgenetic alopecia
Orphanet:183447	Orphanet:183450	\N	"" []	EFO:0004191	"" []	1142395	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	androgenetic alopecia
Orphanet:68346	Orphanet:183447	\N	"" []	EFO:0004191	"" []	2025225	\N	\N	EFO	4	EFO	Rare genetic skin disease	androgenetic alopecia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0004191	"" []	3177977	\N	\N	EFO	5	EFO	genetic disorder	androgenetic alopecia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0004191	"" []	3177978	\N	\N	EFO	5	EFO	skin disease	androgenetic alopecia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004191	"" []	4388016	\N	\N	EFO	6	EFO	disease	androgenetic alopecia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004191	"" []	4388017	\N	\N	EFO	6	EFO	disease	androgenetic alopecia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004191	"" []	5408715	\N	\N	EFO	7	EFO	disposition	androgenetic alopecia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004191	"" []	6147479	\N	\N	EFO	8	EFO	material property	androgenetic alopecia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004191	"" []	6631855	\N	\N	EFO	9	EFO	experimental factor	androgenetic alopecia
EFO:0004192	\N	\N	"A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed)." []	EFO:0004192	"A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed)." []	66185	\N	\N	EFO	0	EFO	alopecia areata	alopecia areata
EFO:0000701	EFO:0004192	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0004192	"A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed)." []	207418	\N	\N	EFO	1	EFO	skin disease	alopecia areata
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004192	"A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed)." []	560547	\N	\N	EFO	2	EFO	disease	alopecia areata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004192	"A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed)." []	1142396	\N	\N	EFO	3	EFO	disposition	alopecia areata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004192	"A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed)." []	2025226	\N	\N	EFO	4	EFO	material property	alopecia areata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004192	"A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed)." []	3177979	\N	\N	EFO	5	EFO	experimental factor	alopecia areata
EFO:0004193	\N	\N	"A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)." []	EFO:0004193	"A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)." []	66186	\N	\N	EFO	0	EFO	basal cell carcinoma	basal cell carcinoma
EFO:0000313	EFO:0004193	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0004193	"A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)." []	207419	\N	\N	EFO	1	EFO	carcinoma	basal cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0004193	"A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)." []	560548	\N	\N	EFO	2	EFO	cancer	basal cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0004193	"A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)." []	560549	\N	\N	EFO	2	EFO	epithelial neoplasm	basal cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004193	"A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)." []	1142397	\N	\N	EFO	3	EFO	neoplasm	basal cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004193	"A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)." []	1142398	\N	\N	EFO	3	EFO	neoplasm	basal cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004193	"A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)." []	2025227	\N	\N	EFO	4	EFO	disease	basal cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004193	"A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)." []	3177980	\N	\N	EFO	5	EFO	disposition	basal cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004193	"A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)." []	4388018	\N	\N	EFO	6	EFO	material property	basal cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004193	"A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)." []	5408716	\N	\N	EFO	7	EFO	experimental factor	basal cell carcinoma
EFO:0004194	\N	\N	"A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease." []	EFO:0004194	"A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease." []	66187	\N	\N	EFO	0	EFO	IGA glomerulonephritis	IGA glomerulonephritis
EFO:0003086	EFO:0004194	\N	"A disease affecting the kidneys" []	EFO:0004194	"A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease." []	207420	\N	\N	EFO	1	EFO	kidney disease	IGA glomerulonephritis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004194	"A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease." []	560550	\N	\N	EFO	2	EFO	disease	IGA glomerulonephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004194	"A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease." []	1142399	\N	\N	EFO	3	EFO	disposition	IGA glomerulonephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004194	"A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease." []	2025228	\N	\N	EFO	4	EFO	material property	IGA glomerulonephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004194	"A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease." []	3177981	\N	\N	EFO	5	EFO	experimental factor	IGA glomerulonephritis
EFO:0004195	\N	\N	"Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol." []	EFO:0004195	"Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol." []	66188	\N	\N	EFO	0	EFO	LDL cholesterol	LDL cholesterol
CHEBI:16113	EFO:0004195	\N	"The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils." []	EFO:0004195	"Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol." []	207421	\N	\N	EFO	1	EFO	cholesterol	LDL cholesterol
EFO:0003836	CHEBI:16113	\N	"Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes." []	EFO:0004195	"Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol." []	560551	\N	\N	EFO	2	EFO	lipoprotein	LDL cholesterol
CHEBI:36080	EFO:0003836	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0004195	"Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol." []	1142400	\N	\N	EFO	3	EFO	protein	LDL cholesterol
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0004195	"Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol." []	2025229	\N	\N	EFO	4	EFO	chemical compound	LDL cholesterol
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0004195	"Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol." []	3177982	\N	\N	EFO	5	EFO	chemical entity	LDL cholesterol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004195	"Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol." []	4388019	\N	\N	EFO	6	EFO	material entity	LDL cholesterol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004195	"Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol." []	5408717	\N	\N	EFO	7	EFO	experimental factor	LDL cholesterol
EFO:0004196	\N	\N	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	EFO:0004196	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	66189	\N	\N	EFO	0	EFO	viral human hepatitis infection	viral human hepatitis infection
EFO:0000763	EFO:0004196	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0004196	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	207422	\N	\N	EFO	1	EFO	viral disease	viral human hepatitis infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0004196	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	560552	\N	\N	EFO	2	EFO	infectious disease	viral human hepatitis infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004196	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	1142401	\N	\N	EFO	3	EFO	disease	viral human hepatitis infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004196	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	2025230	\N	\N	EFO	4	EFO	disposition	viral human hepatitis infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004196	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	3177983	\N	\N	EFO	5	EFO	material property	viral human hepatitis infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004196	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	4388020	\N	\N	EFO	6	EFO	experimental factor	viral human hepatitis infection
EFO:0004197	\N	\N	"INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	EFO:0004197	"INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	66190	\N	\N	EFO	0	EFO	hepatitis B infection	hepatitis B infection
EFO:0004196	EFO:0004197	\N	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	EFO:0004197	"INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	207423	\N	\N	EFO	1	EFO	viral human hepatitis infection	hepatitis B infection
EFO:0000763	EFO:0004196	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0004197	"INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	560553	\N	\N	EFO	2	EFO	viral disease	hepatitis B infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0004197	"INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	1142402	\N	\N	EFO	3	EFO	infectious disease	hepatitis B infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004197	"INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	2025231	\N	\N	EFO	4	EFO	disease	hepatitis B infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004197	"INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	3177984	\N	\N	EFO	5	EFO	disposition	hepatitis B infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004197	"INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	4388021	\N	\N	EFO	6	EFO	material property	hepatitis B infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004197	"INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	5408718	\N	\N	EFO	7	EFO	experimental factor	hepatitis B infection
EFO:0004198	\N	\N	"Tumors or cancer of the SKIN." []	EFO:0004198	"Tumors or cancer of the SKIN." []	66191	\N	\N	EFO	0	EFO	skin neoplasm	skin neoplasm
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004198	"Tumors or cancer of the SKIN." []	207424	\N	\N	EFO	1	EFO	neoplasm	skin neoplasm
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0004198	"Tumors or cancer of the SKIN." []	207425	\N	\N	EFO	1	EFO	skin disease	skin neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004198	"Tumors or cancer of the SKIN." []	560554	\N	\N	EFO	2	EFO	disease	skin neoplasm
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004198	"Tumors or cancer of the SKIN." []	560555	\N	\N	EFO	2	EFO	disease	skin neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004198	"Tumors or cancer of the SKIN." []	1142403	\N	\N	EFO	3	EFO	disposition	skin neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004198	"Tumors or cancer of the SKIN." []	2025232	\N	\N	EFO	4	EFO	material property	skin neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004198	"Tumors or cancer of the SKIN." []	3177985	\N	\N	EFO	5	EFO	experimental factor	skin neoplasm
EFO:0004199	\N	\N	"Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" []	EFO:0004199	"Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" []	66192	\N	\N	EFO	0	EFO	dysplastic nevus	dysplastic nevus
EFO:0004198	EFO:0004199	\N	"Tumors or cancer of the SKIN." []	EFO:0004199	"Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" []	207426	\N	\N	EFO	1	EFO	skin neoplasm	dysplastic nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004199	"Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" []	560556	\N	\N	EFO	2	EFO	neoplasm	dysplastic nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0004199	"Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" []	560557	\N	\N	EFO	2	EFO	skin disease	dysplastic nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004199	"Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" []	1142404	\N	\N	EFO	3	EFO	disease	dysplastic nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004199	"Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" []	1142405	\N	\N	EFO	3	EFO	disease	dysplastic nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004199	"Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" []	2025233	\N	\N	EFO	4	EFO	disposition	dysplastic nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004199	"Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" []	3177986	\N	\N	EFO	5	EFO	material property	dysplastic nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004199	"Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" []	4388022	\N	\N	EFO	6	EFO	experimental factor	dysplastic nevus
EFO:0004200	\N	\N	"A DNA sequencer developed by Illumina." []	EFO:0004200	"A DNA sequencer developed by Illumina." []	66193	\N	\N	EFO	0	EFO	Illumina Genome Analyzer	Illumina Genome Analyzer
EFO:0002699	EFO:0004200	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004200	"A DNA sequencer developed by Illumina." []	207427	\N	\N	EFO	1	EFO	high throughput sequencer	Illumina Genome Analyzer
OBI:0400103	EFO:0004200	\N	"A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences." []	EFO:0004200	"A DNA sequencer developed by Illumina." []	207428	\N	\N	EFO	1	EFO	DNA sequencer	Illumina Genome Analyzer
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004200	"A DNA sequencer developed by Illumina." []	560558	\N	\N	EFO	2	EFO	sequencer	Illumina Genome Analyzer
EFO:0003739	OBI:0400103	\N	"" []	EFO:0004200	"A DNA sequencer developed by Illumina." []	560559	\N	\N	EFO	2	EFO	sequencer	Illumina Genome Analyzer
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004200	"A DNA sequencer developed by Illumina." []	1142406	\N	\N	EFO	3	EFO	instrument	Illumina Genome Analyzer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004200	"A DNA sequencer developed by Illumina." []	2025234	\N	\N	EFO	4	EFO	material entity	Illumina Genome Analyzer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004200	"A DNA sequencer developed by Illumina." []	3177987	\N	\N	EFO	5	EFO	experimental factor	Illumina Genome Analyzer
EFO:0004201	\N	\N	"A DNA sequencer developed by Illumina." []	EFO:0004201	"A DNA sequencer developed by Illumina." []	66194	\N	\N	EFO	0	EFO	Illumina Genome Analyzer II	Illumina Genome Analyzer II
EFO:0002699	EFO:0004201	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004201	"A DNA sequencer developed by Illumina." []	207429	\N	\N	EFO	1	EFO	high throughput sequencer	Illumina Genome Analyzer II
OBI:0400103	EFO:0004201	\N	"A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences." []	EFO:0004201	"A DNA sequencer developed by Illumina." []	207430	\N	\N	EFO	1	EFO	DNA sequencer	Illumina Genome Analyzer II
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004201	"A DNA sequencer developed by Illumina." []	560560	\N	\N	EFO	2	EFO	sequencer	Illumina Genome Analyzer II
EFO:0003739	OBI:0400103	\N	"" []	EFO:0004201	"A DNA sequencer developed by Illumina." []	560561	\N	\N	EFO	2	EFO	sequencer	Illumina Genome Analyzer II
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004201	"A DNA sequencer developed by Illumina." []	1142407	\N	\N	EFO	3	EFO	instrument	Illumina Genome Analyzer II
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004201	"A DNA sequencer developed by Illumina." []	2025235	\N	\N	EFO	4	EFO	material entity	Illumina Genome Analyzer II
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004201	"A DNA sequencer developed by Illumina." []	3177988	\N	\N	EFO	5	EFO	experimental factor	Illumina Genome Analyzer II
EFO:0004202	\N	\N	"A DNA sequencer developed by Illumina." []	EFO:0004202	"A DNA sequencer developed by Illumina." []	66195	\N	\N	EFO	0	EFO	Illumina Genome Analyzer IIx	Illumina Genome Analyzer IIx
EFO:0002699	EFO:0004202	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004202	"A DNA sequencer developed by Illumina." []	207431	\N	\N	EFO	1	EFO	high throughput sequencer	Illumina Genome Analyzer IIx
OBI:0400103	EFO:0004202	\N	"A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences." []	EFO:0004202	"A DNA sequencer developed by Illumina." []	207432	\N	\N	EFO	1	EFO	DNA sequencer	Illumina Genome Analyzer IIx
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004202	"A DNA sequencer developed by Illumina." []	560562	\N	\N	EFO	2	EFO	sequencer	Illumina Genome Analyzer IIx
EFO:0003739	OBI:0400103	\N	"" []	EFO:0004202	"A DNA sequencer developed by Illumina." []	560563	\N	\N	EFO	2	EFO	sequencer	Illumina Genome Analyzer IIx
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004202	"A DNA sequencer developed by Illumina." []	1142408	\N	\N	EFO	3	EFO	instrument	Illumina Genome Analyzer IIx
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004202	"A DNA sequencer developed by Illumina." []	2025236	\N	\N	EFO	4	EFO	material entity	Illumina Genome Analyzer IIx
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004202	"A DNA sequencer developed by Illumina." []	3177989	\N	\N	EFO	5	EFO	experimental factor	Illumina Genome Analyzer IIx
EFO:0004203	\N	\N	"" []	EFO:0004203	"" []	66196	\N	\N	EFO	0	EFO	Illumina HiSeq 2000	Illumina HiSeq 2000
EFO:0002699	EFO:0004203	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004203	"" []	207433	\N	\N	EFO	1	EFO	high throughput sequencer	Illumina HiSeq 2000
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004203	"" []	560564	\N	\N	EFO	2	EFO	sequencer	Illumina HiSeq 2000
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004203	"" []	1142409	\N	\N	EFO	3	EFO	instrument	Illumina HiSeq 2000
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004203	"" []	2025237	\N	\N	EFO	4	EFO	material entity	Illumina HiSeq 2000
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004203	"" []	3177990	\N	\N	EFO	5	EFO	experimental factor	Illumina HiSeq 2000
EFO:0004204	\N	\N	"" []	EFO:0004204	"" []	66197	\N	\N	EFO	0	EFO	Illumina HiSeq 1000	Illumina HiSeq 1000
EFO:0002699	EFO:0004204	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004204	"" []	207434	\N	\N	EFO	1	EFO	high throughput sequencer	Illumina HiSeq 1000
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004204	"" []	560565	\N	\N	EFO	2	EFO	sequencer	Illumina HiSeq 1000
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004204	"" []	1142410	\N	\N	EFO	3	EFO	instrument	Illumina HiSeq 1000
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004204	"" []	2025238	\N	\N	EFO	4	EFO	material entity	Illumina HiSeq 1000
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004204	"" []	3177991	\N	\N	EFO	5	EFO	experimental factor	Illumina HiSeq 1000
EFO:0004205	\N	\N	"" []	EFO:0004205	"" []	66198	\N	\N	EFO	0	EFO	Illumina MiSeq	Illumina MiSeq
EFO:0002699	EFO:0004205	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004205	"" []	207435	\N	\N	EFO	1	EFO	high throughput sequencer	Illumina MiSeq
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004205	"" []	560566	\N	\N	EFO	2	EFO	sequencer	Illumina MiSeq
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004205	"" []	1142411	\N	\N	EFO	3	EFO	instrument	Illumina MiSeq
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004205	"" []	2025239	\N	\N	EFO	4	EFO	material entity	Illumina MiSeq
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004205	"" []	3177992	\N	\N	EFO	5	EFO	experimental factor	Illumina MiSeq
EFO:0004206	\N	\N	"The 454 GS 20 is a GS20 high-throughput sequencing machine developed by 454 Life Sciences." []	EFO:0004206	"The 454 GS 20 is a GS20 high-throughput sequencing machine developed by 454 Life Sciences." []	66199	\N	\N	EFO	0	EFO	454 GS 20 sequencer	454 GS 20 sequencer
EFO:0002699	EFO:0004206	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004206	"The 454 GS 20 is a GS20 high-throughput sequencing machine developed by 454 Life Sciences." []	207436	\N	\N	EFO	1	EFO	high throughput sequencer	454 GS 20 sequencer
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004206	"The 454 GS 20 is a GS20 high-throughput sequencing machine developed by 454 Life Sciences." []	560567	\N	\N	EFO	2	EFO	sequencer	454 GS 20 sequencer
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004206	"The 454 GS 20 is a GS20 high-throughput sequencing machine developed by 454 Life Sciences." []	1142412	\N	\N	EFO	3	EFO	instrument	454 GS 20 sequencer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004206	"The 454 GS 20 is a GS20 high-throughput sequencing machine developed by 454 Life Sciences." []	2025240	\N	\N	EFO	4	EFO	material entity	454 GS 20 sequencer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004206	"The 454 GS 20 is a GS20 high-throughput sequencing machine developed by 454 Life Sciences." []	3177993	\N	\N	EFO	5	EFO	experimental factor	454 GS 20 sequencer
EFO:0004207	\N	\N	"Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS." []	EFO:0004207	"Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS." []	66200	\N	\N	EFO	0	EFO	pathological myopia	pathological myopia
HP:0000545	\N	\N	"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson]	EFO:0004207	"Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS." []	194656	\N	hposlim_core	EFO	0	EFO	Myopia	pathological myopia
EFO:0004208	\N	\N	"A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached." []	EFO:0004208	"A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached." []	66201	\N	\N	EFO	0	EFO	Vitiligo	Vitiligo
EFO:0000701	EFO:0004208	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0004208	"A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached." []	207437	\N	\N	EFO	1	EFO	skin disease	Vitiligo
EFO:0005140	EFO:0004208	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0004208	"A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached." []	207438	\N	\N	EFO	1	EFO	autoimmune disease	Vitiligo
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004208	"A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached." []	560568	\N	\N	EFO	2	EFO	disease	Vitiligo
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004208	"A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached." []	560569	\N	\N	EFO	2	EFO	immune system disease	Vitiligo
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004208	"A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached." []	2025242	\N	\N	EFO	4	EFO	disposition	Vitiligo
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004208	"A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached." []	1142414	\N	\N	EFO	3	EFO	disease	Vitiligo
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004208	"A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached." []	2999574	\N	\N	EFO	5	EFO	material property	Vitiligo
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004208	"A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached." []	4132654	\N	\N	EFO	6	EFO	experimental factor	Vitiligo
EFO:0004209	\N	\N	"A birth defect due to malformation of theURETHRAin which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of thePENISor on thePERINEUM. In the female, the malformed urethral opening is in theVAGINA." []	EFO:0004209	"A birth defect due to malformation of theURETHRAin which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of thePENISor on thePERINEUM. In the female, the malformed urethral opening is in theVAGINA." []	66202	\N	\N	EFO	0	EFO	hypospadias	hypospadias
EFO:0000512	EFO:0004209	\N	"any diease of the reproductive system" []	EFO:0004209	"A birth defect due to malformation of theURETHRAin which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of thePENISor on thePERINEUM. In the female, the malformed urethral opening is in theVAGINA." []	207439	\N	\N	EFO	1	EFO	reproductive system disease	hypospadias
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004209	"A birth defect due to malformation of theURETHRAin which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of thePENISor on thePERINEUM. In the female, the malformed urethral opening is in theVAGINA." []	560570	\N	\N	EFO	2	EFO	disease	hypospadias
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004209	"A birth defect due to malformation of theURETHRAin which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of thePENISor on thePERINEUM. In the female, the malformed urethral opening is in theVAGINA." []	1142415	\N	\N	EFO	3	EFO	disposition	hypospadias
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004209	"A birth defect due to malformation of theURETHRAin which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of thePENISor on thePERINEUM. In the female, the malformed urethral opening is in theVAGINA." []	2025243	\N	\N	EFO	4	EFO	material property	hypospadias
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004209	"A birth defect due to malformation of theURETHRAin which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of thePENISor on thePERINEUM. In the female, the malformed urethral opening is in theVAGINA." []	3177995	\N	\N	EFO	5	EFO	experimental factor	hypospadias
EFO:0004210	\N	\N	"Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin." []	EFO:0004210	"Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin." []	66203	\N	\N	EFO	0	EFO	gallstones	gallstones
EFO:0003832	EFO:0004210	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:0004210	"Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin." []	207440	\N	\N	EFO	1	EFO	gallbladder disease	gallstones
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0004210	"Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin." []	560571	\N	\N	EFO	2	EFO	digestive system disease	gallstones
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004210	"Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin." []	1142416	\N	\N	EFO	3	EFO	disease	gallstones
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004210	"Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin." []	2025244	\N	\N	EFO	4	EFO	disposition	gallstones
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004210	"Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin." []	3177996	\N	\N	EFO	5	EFO	material property	gallstones
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004210	"Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin." []	4388023	\N	\N	EFO	6	EFO	experimental factor	gallstones
EFO:0004211	\N	\N	"A condition of elevated levels of TRIGLYCERIDES in the blood." []	EFO:0004211	"A condition of elevated levels of TRIGLYCERIDES in the blood." []	66204	\N	\N	EFO	0	EFO	Hypertriglyceridemia	Hypertriglyceridemia
EFO:0000589	EFO:0004211	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0004211	"A condition of elevated levels of TRIGLYCERIDES in the blood." []	207441	\N	\N	EFO	1	EFO	metabolic disease	Hypertriglyceridemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004211	"A condition of elevated levels of TRIGLYCERIDES in the blood." []	560572	\N	\N	EFO	2	EFO	disease	Hypertriglyceridemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004211	"A condition of elevated levels of TRIGLYCERIDES in the blood." []	1142417	\N	\N	EFO	3	EFO	disposition	Hypertriglyceridemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004211	"A condition of elevated levels of TRIGLYCERIDES in the blood." []	2025245	\N	\N	EFO	4	EFO	material property	Hypertriglyceridemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004211	"A condition of elevated levels of TRIGLYCERIDES in the blood." []	3177997	\N	\N	EFO	5	EFO	experimental factor	Hypertriglyceridemia
EFO:0004212	\N	\N	"A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues." []	EFO:0004212	"A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues." []	66205	\N	\N	EFO	0	EFO	Keloid	Keloid
EFO:0000701	EFO:0004212	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0004212	"A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues." []	207442	\N	\N	EFO	1	EFO	skin disease	Keloid
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004212	"A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues." []	560573	\N	\N	EFO	2	EFO	disease	Keloid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004212	"A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues." []	1142418	\N	\N	EFO	3	EFO	disposition	Keloid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004212	"A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues." []	2025246	\N	\N	EFO	4	EFO	material property	Keloid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004212	"A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues." []	3177998	\N	\N	EFO	5	EFO	experimental factor	Keloid
EFO:0004213	\N	\N	"Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs." []	EFO:0004213	"Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs." []	66206	\N	\N	EFO	0	EFO	otosclerosis	otosclerosis
EFO:0001058	EFO:0004213	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0004213	"Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs." []	207443	\N	\N	EFO	1	EFO	sensory system disease	otosclerosis
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004213	"Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs." []	560574	\N	\N	EFO	2	EFO	nervous system disease	otosclerosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004213	"Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs." []	1142419	\N	\N	EFO	3	EFO	disease	otosclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004213	"Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs." []	2025247	\N	\N	EFO	4	EFO	disposition	otosclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004213	"Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs." []	3177999	\N	\N	EFO	5	EFO	material property	otosclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004213	"Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs." []	4388024	\N	\N	EFO	6	EFO	experimental factor	otosclerosis
EFO:0004214	\N	\N	"An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm." []	EFO:0004214	"An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm." []	66207	\N	\N	EFO	0	EFO	Abdominal Aortic Aneurysm	Abdominal Aortic Aneurysm
EFO:0001666	EFO:0004214	\N	"protruding sac formed by dilation of the aorta" []	EFO:0004214	"An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm." []	207444	\N	\N	EFO	1	EFO	aortic aneurysm	Abdominal Aortic Aneurysm
EFO:0005775	EFO:0001666	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:0004214	"An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm." []	560575	\N	\N	EFO	2	EFO	aortic disease	Abdominal Aortic Aneurysm
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0004214	"An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm." []	1142420	\N	\N	EFO	3	EFO	vascular disease	Abdominal Aortic Aneurysm
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004214	"An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm." []	2025248	\N	\N	EFO	4	EFO	cardiovascular disease	Abdominal Aortic Aneurysm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004214	"An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm." []	3178000	\N	\N	EFO	5	EFO	disease	Abdominal Aortic Aneurysm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004214	"An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm." []	4388025	\N	\N	EFO	6	EFO	disposition	Abdominal Aortic Aneurysm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004214	"An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm." []	5408719	\N	\N	EFO	7	EFO	material property	Abdominal Aortic Aneurysm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004214	"An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm." []	6147480	\N	\N	EFO	8	EFO	experimental factor	Abdominal Aortic Aneurysm
EFO:0004215	\N	\N	"An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)." []	EFO:0004215	"An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)." []	66208	\N	\N	EFO	0	EFO	anorexia nervosa	anorexia nervosa
EFO:0005203	EFO:0004215	\N	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	EFO:0004215	"An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)." []	207445	\N	\N	EFO	1	EFO	eating disorder	anorexia nervosa
EFO:0000677	EFO:0005203	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004215	"An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)." []	560576	\N	\N	EFO	2	EFO	mental or behavioural disorder	anorexia nervosa
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004215	"An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)." []	1142421	\N	\N	EFO	3	EFO	brain disease	anorexia nervosa
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004215	"An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)." []	2025249	\N	\N	EFO	4	EFO	nervous system disease	anorexia nervosa
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004215	"An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)." []	3178001	\N	\N	EFO	5	EFO	disease	anorexia nervosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004215	"An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)." []	4388026	\N	\N	EFO	6	EFO	disposition	anorexia nervosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004215	"An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)." []	5408720	\N	\N	EFO	7	EFO	material property	anorexia nervosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004215	"An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)." []	6147481	\N	\N	EFO	8	EFO	experimental factor	anorexia nervosa
EFO:0004216	\N	\N	"A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994)." []	EFO:0004216	"A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994)." []	66209	\N	\N	EFO	0	EFO	conduct disorder	conduct disorder
EFO:0000677	EFO:0004216	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004216	"A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994)." []	207446	\N	\N	EFO	1	EFO	mental or behavioural disorder	conduct disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004216	"A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994)." []	560577	\N	\N	EFO	2	EFO	brain disease	conduct disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004216	"A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994)." []	1142422	\N	\N	EFO	3	EFO	nervous system disease	conduct disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004216	"A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994)." []	2025250	\N	\N	EFO	4	EFO	disease	conduct disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004216	"A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994)." []	3178002	\N	\N	EFO	5	EFO	disposition	conduct disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004216	"A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994)." []	4388027	\N	\N	EFO	6	EFO	material property	conduct disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004216	"A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994)." []	5408721	\N	\N	EFO	7	EFO	experimental factor	conduct disorder
EFO:0004218	\N	\N	"The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." []	EFO:0004218	"The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." []	66210	\N	\N	EFO	0	EFO	marijuana dependence	marijuana dependence
EFO:0007191	EFO:0004218	\N	"A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." []	EFO:0004218	"The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." []	207447	\N	\N	EFO	1	EFO	cannabis dependence	marijuana dependence
EFO:0003890	EFO:0007191	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0004218	"The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." []	560578	\N	\N	EFO	2	EFO	drug dependence	marijuana dependence
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004218	"The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." []	1142423	\N	\N	EFO	3	EFO	mental or behavioural disorder	marijuana dependence
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004218	"The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." []	2025251	\N	\N	EFO	4	EFO	brain disease	marijuana dependence
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004218	"The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." []	3178003	\N	\N	EFO	5	EFO	nervous system disease	marijuana dependence
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004218	"The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." []	4388028	\N	\N	EFO	6	EFO	disease	marijuana dependence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004218	"The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." []	5408722	\N	\N	EFO	7	EFO	disposition	marijuana dependence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004218	"The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." []	6147482	\N	\N	EFO	8	EFO	material property	marijuana dependence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004218	"The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." []	6631856	\N	\N	EFO	9	EFO	experimental factor	marijuana dependence
EFO:0004219	\N	\N	"A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes." []	EFO:0004219	"A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes." []	66211	\N	\N	EFO	0	EFO	CD8-Positive T-Lymphocytes	CD8-Positive T-Lymphocytes
CL:0000815	EFO:0004219	\N	"A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release." []	EFO:0004219	"A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes." []	207448	\N	\N	EFO	1	EFO	regulatory T cell	CD8-Positive T-Lymphocytes
CL:0002419	CL:0000815	\N	"" []	EFO:0004219	"A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes." []	560579	\N	\N	EFO	2	EFO	mature T cell	CD8-Positive T-Lymphocytes
CL:0000084	CL:0002419	\N	"A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." []	EFO:0004219	"A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes." []	1142424	\N	\N	EFO	3	EFO	T cell	CD8-Positive T-Lymphocytes
CL:0000542	CL:0000084	\N	"Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood." []	EFO:0004219	"A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes." []	2025252	\N	\N	EFO	4	EFO	lymphocyte	CD8-Positive T-Lymphocytes
CL:0000738	CL:0000542	\N	"Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils." []	EFO:0004219	"A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes." []	3178004	\N	\N	EFO	5	EFO	leukocyte	CD8-Positive T-Lymphocytes
CL:0000988	CL:0000738	\N	"A cell of a hematopoietic lineage." []	EFO:0004219	"A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes." []	4388029	\N	\N	EFO	6	EFO	hematopoietic cell	CD8-Positive T-Lymphocytes
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0004219	"A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes." []	5408723	\N	\N	EFO	7	EFO	cell type	CD8-Positive T-Lymphocytes
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004219	"A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes." []	6147483	\N	\N	EFO	8	EFO	material entity	CD8-Positive T-Lymphocytes
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004219	"A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes." []	6631857	\N	\N	EFO	9	EFO	experimental factor	CD8-Positive T-Lymphocytes
EFO:0004220	\N	\N	"INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." []	EFO:0004220	"INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." []	66212	\N	\N	EFO	0	EFO	Chronic Hepatitis C infection	Chronic Hepatitis C infection
EFO:0003047	EFO:0004220	\N	"A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	EFO:0004220	"INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." []	207449	\N	\N	EFO	1	EFO	hepatitis C infection	Chronic Hepatitis C infection
EFO:0004196	EFO:0003047	\N	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	EFO:0004220	"INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." []	560580	\N	\N	EFO	2	EFO	viral human hepatitis infection	Chronic Hepatitis C infection
EFO:0000763	EFO:0004196	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0004220	"INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." []	1142425	\N	\N	EFO	3	EFO	viral disease	Chronic Hepatitis C infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0004220	"INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." []	2025253	\N	\N	EFO	4	EFO	infectious disease	Chronic Hepatitis C infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004220	"INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." []	3178005	\N	\N	EFO	5	EFO	disease	Chronic Hepatitis C infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004220	"INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." []	4388030	\N	\N	EFO	6	EFO	disposition	Chronic Hepatitis C infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004220	"INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." []	5408724	\N	\N	EFO	7	EFO	material property	Chronic Hepatitis C infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004220	"INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." []	6147484	\N	\N	EFO	8	EFO	experimental factor	Chronic Hepatitis C infection
EFO:0004224	\N	\N	"Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." []	EFO:0004224	"Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." []	66213	\N	\N	EFO	0	EFO	Coronary Restenosis	Coronary Restenosis
EFO:0001645	EFO:0004224	\N	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	EFO:0004224	"Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." []	207450	\N	\N	EFO	1	EFO	coronary heart disease	Coronary Restenosis
EFO:0003777	EFO:0001645	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0004224	"Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." []	560581	\N	\N	EFO	2	EFO	heart disease	Coronary Restenosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004224	"Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." []	1142426	\N	\N	EFO	3	EFO	cardiovascular disease	Coronary Restenosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004224	"Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." []	2025254	\N	\N	EFO	4	EFO	disease	Coronary Restenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004224	"Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." []	3178006	\N	\N	EFO	5	EFO	disposition	Coronary Restenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004224	"Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." []	4388031	\N	\N	EFO	6	EFO	material property	Coronary Restenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004224	"Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." []	5408725	\N	\N	EFO	7	EFO	experimental factor	Coronary Restenosis
EFO:0004225	\N	\N	"Spasm of the large- or medium-sized coronary arteries." []	EFO:0004225	"Spasm of the large- or medium-sized coronary arteries." []	66214	\N	\N	EFO	0	EFO	Coronary Vasospasm	Coronary Vasospasm
EFO:0001645	EFO:0004225	\N	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	EFO:0004225	"Spasm of the large- or medium-sized coronary arteries." []	207451	\N	\N	EFO	1	EFO	coronary heart disease	Coronary Vasospasm
EFO:0003777	EFO:0001645	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0004225	"Spasm of the large- or medium-sized coronary arteries." []	560582	\N	\N	EFO	2	EFO	heart disease	Coronary Vasospasm
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004225	"Spasm of the large- or medium-sized coronary arteries." []	1142427	\N	\N	EFO	3	EFO	cardiovascular disease	Coronary Vasospasm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004225	"Spasm of the large- or medium-sized coronary arteries." []	2025255	\N	\N	EFO	4	EFO	disease	Coronary Vasospasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004225	"Spasm of the large- or medium-sized coronary arteries." []	3178007	\N	\N	EFO	5	EFO	disposition	Coronary Vasospasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004225	"Spasm of the large- or medium-sized coronary arteries." []	4388032	\N	\N	EFO	6	EFO	material property	Coronary Vasospasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004225	"Spasm of the large- or medium-sized coronary arteries." []	5408726	\N	\N	EFO	7	EFO	experimental factor	Coronary Vasospasm
EFO:0004226	\N	\N	"A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))." []	EFO:0004226	"A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))." []	66215	\N	\N	EFO	0	EFO	Creutzfeldt Jacob Disease	Creutzfeldt Jacob Disease
EFO:0004720	EFO:0004226	\N	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	EFO:0004226	"A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))." []	207452	\N	\N	EFO	1	EFO	prion disease	Creutzfeldt Jacob Disease
EFO:0000618	EFO:0004720	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004226	"A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))." []	560583	\N	\N	EFO	2	EFO	nervous system disease	Creutzfeldt Jacob Disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004226	"A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))." []	1142428	\N	\N	EFO	3	EFO	disease	Creutzfeldt Jacob Disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004226	"A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))." []	2025256	\N	\N	EFO	4	EFO	disposition	Creutzfeldt Jacob Disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004226	"A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))." []	3178008	\N	\N	EFO	5	EFO	material property	Creutzfeldt Jacob Disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004226	"A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))." []	4388033	\N	\N	EFO	6	EFO	experimental factor	Creutzfeldt Jacob Disease
EFO:0004227	\N	\N	"A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome." []	EFO:0004227	"A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome." []	66216	\N	\N	EFO	0	EFO	Dengue Hemorrhagic Fever	Dengue Hemorrhagic Fever
EFO:0005547	EFO:0004227	\N	"A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding." []	EFO:0004227	"A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome." []	207453	\N	\N	EFO	1	EFO	dengue disease	Dengue Hemorrhagic Fever
EFO:0000763	EFO:0005547	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0004227	"A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome." []	560584	\N	\N	EFO	2	EFO	viral disease	Dengue Hemorrhagic Fever
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0004227	"A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome." []	1142429	\N	\N	EFO	3	EFO	infectious disease	Dengue Hemorrhagic Fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004227	"A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome." []	2025257	\N	\N	EFO	4	EFO	disease	Dengue Hemorrhagic Fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004227	"A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome." []	3178009	\N	\N	EFO	5	EFO	disposition	Dengue Hemorrhagic Fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004227	"A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome." []	4388034	\N	\N	EFO	6	EFO	material property	Dengue Hemorrhagic Fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004227	"A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome." []	5408727	\N	\N	EFO	7	EFO	experimental factor	Dengue Hemorrhagic Fever
EFO:0004228	\N	\N	"A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment." []	EFO:0004228	"A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment." []	66217	\N	\N	EFO	0	EFO	drug-induced liver injury	drug-induced liver injury
EFO:0001421	EFO:0004228	\N	"Pathological processes of the LIVER." []	EFO:0004228	"A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment." []	207454	\N	\N	EFO	1	EFO	liver disease	drug-induced liver injury
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0004228	"A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment." []	560585	\N	\N	EFO	2	EFO	digestive system disease	drug-induced liver injury
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0004228	"A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment." []	560586	\N	\N	EFO	2	EFO	endocrine system disease	drug-induced liver injury
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004228	"A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment." []	1142430	\N	\N	EFO	3	EFO	disease	drug-induced liver injury
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004228	"A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment." []	1142431	\N	\N	EFO	3	EFO	disease	drug-induced liver injury
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004228	"A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment." []	2025258	\N	\N	EFO	4	EFO	disposition	drug-induced liver injury
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004228	"A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment." []	3178010	\N	\N	EFO	5	EFO	material property	drug-induced liver injury
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004228	"A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment." []	4388035	\N	\N	EFO	6	EFO	experimental factor	drug-induced liver injury
EFO:0004229	\N	\N	"A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." []	EFO:0004229	"A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." []	66218	\N	\N	EFO	0	EFO	Dupuytren Contracture	Dupuytren Contracture
EFO:0003899	EFO:0004229	\N	"Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." []	EFO:0004229	"A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." []	207455	\N	\N	EFO	1	EFO	contracture	Dupuytren Contracture
EFO:0002970	EFO:0003899	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:0004229	"A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." []	560587	\N	\N	EFO	2	EFO	muscular disease	Dupuytren Contracture
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:0004229	"A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." []	1142432	\N	\N	EFO	3	EFO	skeletal system disease	Dupuytren Contracture
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004229	"A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." []	2025259	\N	\N	EFO	4	EFO	disease	Dupuytren Contracture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004229	"A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." []	3178011	\N	\N	EFO	5	EFO	disposition	Dupuytren Contracture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004229	"A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." []	4388036	\N	\N	EFO	6	EFO	material property	Dupuytren Contracture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004229	"A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." []	5408728	\N	\N	EFO	7	EFO	experimental factor	Dupuytren Contracture
EFO:0004230	\N	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:0004230	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	66219	\N	\N	EFO	0	EFO	endometrial neoplasm	endometrial neoplasm
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:0004230	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	207456	\N	\N	EFO	1	EFO	uterine neoplasm	endometrial neoplasm
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:0004230	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	560588	\N	\N	EFO	2	EFO	reproductive system disease	endometrial neoplasm
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0004230	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	560589	\N	\N	EFO	2	EFO	urogenital neoplasm	endometrial neoplasm
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004230	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	1142433	\N	\N	EFO	3	EFO	disease	endometrial neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004230	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	1142434	\N	\N	EFO	3	EFO	neoplasm	endometrial neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004230	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	3178013	\N	\N	EFO	5	EFO	disposition	endometrial neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004230	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	2025261	\N	\N	EFO	4	EFO	disease	endometrial neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004230	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	4132655	\N	\N	EFO	6	EFO	material property	endometrial neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004230	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	5180976	\N	\N	EFO	7	EFO	experimental factor	endometrial neoplasm
EFO:0004232	\N	\N	"Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens." []	EFO:0004232	"Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens." []	66220	\N	\N	EFO	0	EFO	eosinophilic esophagitis	eosinophilic esophagitis
EFO:0000405	EFO:0004232	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0004232	"Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens." []	207457	\N	\N	EFO	1	EFO	digestive system disease	eosinophilic esophagitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004232	"Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens." []	560590	\N	\N	EFO	2	EFO	disease	eosinophilic esophagitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004232	"Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens." []	1142435	\N	\N	EFO	3	EFO	disposition	eosinophilic esophagitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004232	"Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens." []	2025262	\N	\N	EFO	4	EFO	material property	eosinophilic esophagitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004232	"Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens." []	3178014	\N	\N	EFO	5	EFO	experimental factor	eosinophilic esophagitis
EFO:0004233	\N	\N	"decrease in no. of leukocytes" []	EFO:0004233	"decrease in no. of leukocytes" []	66221	\N	\N	EFO	0	EFO	leukopenia	leukopenia
HP:0001871	\N	\N	"An abnormality of the hematopoietic system." [HPO:probinson]	EFO:0004233	"decrease in no. of leukocytes" []	194657	\N	\N	EFO	0	EFO	Abnormality of blood and blood-forming tissues	leukopenia
EFO:0004234	\N	\N	"The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction." []	EFO:0004234	"The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction." []	66222	\N	\N	EFO	0	EFO	erectile dysfunction	erectile dysfunction
EFO:0000512	EFO:0004234	\N	"any diease of the reproductive system" []	EFO:0004234	"The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction." []	207458	\N	\N	EFO	1	EFO	reproductive system disease	erectile dysfunction
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004234	"The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction." []	560591	\N	\N	EFO	2	EFO	disease	erectile dysfunction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004234	"The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction." []	1142436	\N	\N	EFO	3	EFO	disposition	erectile dysfunction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004234	"The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction." []	2025263	\N	\N	EFO	4	EFO	material property	erectile dysfunction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004234	"The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction." []	3178015	\N	\N	EFO	5	EFO	experimental factor	erectile dysfunction
EFO:0004235	\N	\N	"The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)" []	EFO:0004235	"The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)" []	66223	\N	\N	EFO	0	EFO	exfoliation syndrome	exfoliation syndrome
EFO:0003966	EFO:0004235	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0004235	"The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)" []	207459	\N	\N	EFO	1	EFO	eye disease	exfoliation syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004235	"The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)" []	560592	\N	\N	EFO	2	EFO	disease	exfoliation syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004235	"The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)" []	1142437	\N	\N	EFO	3	EFO	disposition	exfoliation syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004235	"The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)" []	2025264	\N	\N	EFO	4	EFO	material property	exfoliation syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004235	"The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)" []	3178016	\N	\N	EFO	5	EFO	experimental factor	exfoliation syndrome
EFO:0004236	\N	\N	"A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE." []	EFO:0004236	"A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE." []	66224	\N	\N	EFO	0	EFO	focal segmental glomerulosclerosis	focal segmental glomerulosclerosis
EFO:0003086	EFO:0004236	\N	"A disease affecting the kidneys" []	EFO:0004236	"A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE." []	207460	\N	\N	EFO	1	EFO	kidney disease	focal segmental glomerulosclerosis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004236	"A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE." []	560593	\N	\N	EFO	2	EFO	disease	focal segmental glomerulosclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004236	"A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE." []	1142438	\N	\N	EFO	3	EFO	disposition	focal segmental glomerulosclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004236	"A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE." []	2025265	\N	\N	EFO	4	EFO	material property	focal segmental glomerulosclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004236	"A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE." []	3178017	\N	\N	EFO	5	EFO	experimental factor	focal segmental glomerulosclerosis
EFO:0004237	\N	\N	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	EFO:0004237	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	66225	\N	\N	EFO	0	EFO	Graves disease	Graves disease
EFO:0005809	EFO:0004237	\N	"Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." []	EFO:0004237	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	207461	\N	\N	EFO	1	EFO	type II hypersensitivity reaction disease	Graves disease
EFO:0006812	EFO:0004237	\N	"a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroids cells, thereby destroying it.\\n\\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." []	EFO:0004237	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	207462	\N	\N	EFO	1	EFO	autoimmune thyroid disease	Graves disease
EFO:1002003	EFO:0005809	\N	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	EFO:0004237	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	560594	\N	\N	EFO	2	EFO	hypersensitivity reaction disease	Graves disease
EFO:0005140	EFO:0006812	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0004237	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	560595	\N	\N	EFO	2	EFO	autoimmune disease	Graves disease
EFO:0000540	EFO:1002003	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004237	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	1142439	\N	\N	EFO	3	EFO	immune system disease	Graves disease
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004237	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	1142440	\N	\N	EFO	3	EFO	immune system disease	Graves disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004237	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	2025266	\N	\N	EFO	4	EFO	disease	Graves disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004237	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	3178018	\N	\N	EFO	5	EFO	disposition	Graves disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004237	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	4388038	\N	\N	EFO	6	EFO	material property	Graves disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004237	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	5408729	\N	\N	EFO	7	EFO	experimental factor	Graves disease
EFO:0004238	\N	\N	"A general term for the complete or partial loss of the ability to hear from one or both ears." []	EFO:0004238	"A general term for the complete or partial loss of the ability to hear from one or both ears." []	66226	\N	\N	EFO	0	EFO	hearing loss	hearing loss
EFO:1001455	EFO:0004238	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:0004238	"A general term for the complete or partial loss of the ability to hear from one or both ears." []	207463	\N	\N	EFO	1	EFO	auditory system disease	hearing loss
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0004238	"A general term for the complete or partial loss of the ability to hear from one or both ears." []	560596	\N	\N	EFO	2	EFO	sensory system disease	hearing loss
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004238	"A general term for the complete or partial loss of the ability to hear from one or both ears." []	1142441	\N	\N	EFO	3	EFO	nervous system disease	hearing loss
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004238	"A general term for the complete or partial loss of the ability to hear from one or both ears." []	2025267	\N	\N	EFO	4	EFO	disease	hearing loss
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004238	"A general term for the complete or partial loss of the ability to hear from one or both ears." []	3178019	\N	\N	EFO	5	EFO	disposition	hearing loss
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004238	"A general term for the complete or partial loss of the ability to hear from one or both ears." []	4388039	\N	\N	EFO	6	EFO	material property	hearing loss
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004238	"A general term for the complete or partial loss of the ability to hear from one or both ears." []	5408730	\N	\N	EFO	7	EFO	experimental factor	hearing loss
EFO:0004239	\N	\N	"INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	EFO:0004239	"INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	66227	\N	\N	EFO	0	EFO	chronic hepatitis B infection	chronic hepatitis B infection
EFO:0004197	EFO:0004239	\N	"INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	EFO:0004239	"INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	207464	\N	\N	EFO	1	EFO	hepatitis B infection	chronic hepatitis B infection
EFO:0004196	EFO:0004197	\N	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	EFO:0004239	"INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	560597	\N	\N	EFO	2	EFO	viral human hepatitis infection	chronic hepatitis B infection
EFO:0000763	EFO:0004196	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0004239	"INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	1142442	\N	\N	EFO	3	EFO	viral disease	chronic hepatitis B infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0004239	"INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	2025268	\N	\N	EFO	4	EFO	infectious disease	chronic hepatitis B infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004239	"INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	3178020	\N	\N	EFO	5	EFO	disease	chronic hepatitis B infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004239	"INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	4388040	\N	\N	EFO	6	EFO	disposition	chronic hepatitis B infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004239	"INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	5408731	\N	\N	EFO	7	EFO	material property	chronic hepatitis B infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004239	"INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." []	6147485	\N	\N	EFO	8	EFO	experimental factor	chronic hepatitis B infection
EFO:0004240	\N	\N	"Strong dependence, both physiological and emotional, upon heroin." []	EFO:0004240	"Strong dependence, both physiological and emotional, upon heroin." []	66228	\N	\N	EFO	0	EFO	heroin dependence	heroin dependence
EFO:0005611	EFO:0004240	\N	"Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" []	EFO:0004240	"Strong dependence, both physiological and emotional, upon heroin." []	207465	\N	\N	EFO	1	EFO	opioid dependence	heroin dependence
EFO:0003890	EFO:0005611	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0004240	"Strong dependence, both physiological and emotional, upon heroin." []	560598	\N	\N	EFO	2	EFO	drug dependence	heroin dependence
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004240	"Strong dependence, both physiological and emotional, upon heroin." []	1142443	\N	\N	EFO	3	EFO	mental or behavioural disorder	heroin dependence
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004240	"Strong dependence, both physiological and emotional, upon heroin." []	2025269	\N	\N	EFO	4	EFO	brain disease	heroin dependence
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004240	"Strong dependence, both physiological and emotional, upon heroin." []	3178021	\N	\N	EFO	5	EFO	nervous system disease	heroin dependence
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004240	"Strong dependence, both physiological and emotional, upon heroin." []	4388041	\N	\N	EFO	6	EFO	disease	heroin dependence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004240	"Strong dependence, both physiological and emotional, upon heroin." []	5408732	\N	\N	EFO	7	EFO	disposition	heroin dependence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004240	"Strong dependence, both physiological and emotional, upon heroin." []	6147486	\N	\N	EFO	8	EFO	material property	heroin dependence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004240	"Strong dependence, both physiological and emotional, upon heroin." []	6631858	\N	\N	EFO	9	EFO	experimental factor	heroin dependence
EFO:0004242	\N	\N	"An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension." []	EFO:0004242	"An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension." []	66229	\N	\N	EFO	0	EFO	obsessive-compulsive disorder	obsessive-compulsive disorder
EFO:0000677	EFO:0004242	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004242	"An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension." []	207466	\N	\N	EFO	1	EFO	mental or behavioural disorder	obsessive-compulsive disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004242	"An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension." []	560599	\N	\N	EFO	2	EFO	brain disease	obsessive-compulsive disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004242	"An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension." []	1142444	\N	\N	EFO	3	EFO	nervous system disease	obsessive-compulsive disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004242	"An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension." []	2025270	\N	\N	EFO	4	EFO	disease	obsessive-compulsive disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004242	"An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension." []	3178022	\N	\N	EFO	5	EFO	disposition	obsessive-compulsive disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004242	"An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension." []	4388042	\N	\N	EFO	6	EFO	material property	obsessive-compulsive disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004242	"An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension." []	5408733	\N	\N	EFO	7	EFO	experimental factor	obsessive-compulsive disorder
EFO:0004243	\N	\N	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	EFO:0004243	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	66230	\N	\N	EFO	0	EFO	carcinoid tumor	carcinoid tumor
EFO:0000616	EFO:0004243	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004243	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	207467	\N	\N	EFO	1	EFO	neoplasm	carcinoid tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004243	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	560600	\N	\N	EFO	2	EFO	disease	carcinoid tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004243	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	1142445	\N	\N	EFO	3	EFO	disposition	carcinoid tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004243	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	2025271	\N	\N	EFO	4	EFO	material property	carcinoid tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004243	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	3178023	\N	\N	EFO	5	EFO	experimental factor	carcinoid tumor
EFO:0004244	\N	\N	"A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." []	EFO:0004244	"A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." []	66231	\N	\N	EFO	0	EFO	interstitial lung disease	interstitial lung disease
EFO:0003818	EFO:0004244	\N	"Pathological processes involving any part of the LUNG." []	EFO:0004244	"A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." []	207468	\N	\N	EFO	1	EFO	lung disease	interstitial lung disease
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0004244	"A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." []	560601	\N	\N	EFO	2	EFO	respiratory system disease	interstitial lung disease
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004244	"A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." []	1142446	\N	\N	EFO	3	EFO	disease	interstitial lung disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004244	"A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." []	2025272	\N	\N	EFO	4	EFO	disposition	interstitial lung disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004244	"A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." []	3178024	\N	\N	EFO	5	EFO	material property	interstitial lung disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004244	"A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." []	4388043	\N	\N	EFO	6	EFO	experimental factor	interstitial lung disease
EFO:0004246	\N	\N	"An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities." []	EFO:0004246	"An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities." []	66232	\N	\N	EFO	0	EFO	mucocutaneous lymph node syndrome	mucocutaneous lymph node syndrome
EFO:0000540	EFO:0004246	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004246	"An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities." []	207469	\N	\N	EFO	1	EFO	immune system disease	mucocutaneous lymph node syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004246	"An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities." []	560602	\N	\N	EFO	2	EFO	disease	mucocutaneous lymph node syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004246	"An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities." []	1142447	\N	\N	EFO	3	EFO	disposition	mucocutaneous lymph node syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004246	"An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities." []	2025273	\N	\N	EFO	4	EFO	material property	mucocutaneous lymph node syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004246	"An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities." []	3178025	\N	\N	EFO	5	EFO	experimental factor	mucocutaneous lymph node syndrome
EFO:0004247	\N	\N	"Those disorders that have a disturbance in mood as their predominant feature." []	EFO:0004247	"Those disorders that have a disturbance in mood as their predominant feature." []	66233	\N	\N	EFO	0	EFO	mood disorder	mood disorder
EFO:0000677	EFO:0004247	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004247	"Those disorders that have a disturbance in mood as their predominant feature." []	207470	\N	\N	EFO	1	EFO	mental or behavioural disorder	mood disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004247	"Those disorders that have a disturbance in mood as their predominant feature." []	560603	\N	\N	EFO	2	EFO	brain disease	mood disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004247	"Those disorders that have a disturbance in mood as their predominant feature." []	1142448	\N	\N	EFO	3	EFO	nervous system disease	mood disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004247	"Those disorders that have a disturbance in mood as their predominant feature." []	2025274	\N	\N	EFO	4	EFO	disease	mood disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004247	"Those disorders that have a disturbance in mood as their predominant feature." []	3178026	\N	\N	EFO	5	EFO	disposition	mood disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004247	"Those disorders that have a disturbance in mood as their predominant feature." []	4388044	\N	\N	EFO	6	EFO	material property	mood disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004247	"Those disorders that have a disturbance in mood as their predominant feature." []	5408734	\N	\N	EFO	7	EFO	experimental factor	mood disorder
EFO:0004248	\N	\N	"The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." []	EFO:0004248	"The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." []	66234	\N	\N	EFO	0	EFO	male infertility	male infertility
EFO:0000545	EFO:0004248	\N	"Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility." []	EFO:0004248	"The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." []	207471	\N	\N	EFO	1	EFO	infertility	male infertility
EFO:0002625	EFO:0004248	\N	"presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" []	EFO:0004248	"The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." []	207472	\N	\N	EFO	1	EFO	teratozoospermia	male infertility
EFO:0000512	EFO:0000545	\N	"any diease of the reproductive system" []	EFO:0004248	"The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." []	560604	\N	\N	EFO	2	EFO	reproductive system disease	male infertility
EFO:0000512	EFO:0002625	\N	"any diease of the reproductive system" []	EFO:0004248	"The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." []	560605	\N	\N	EFO	2	EFO	reproductive system disease	male infertility
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004248	"The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." []	1142449	\N	\N	EFO	3	EFO	disease	male infertility
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004248	"The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." []	2025275	\N	\N	EFO	4	EFO	disposition	male infertility
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004248	"The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." []	3178027	\N	\N	EFO	5	EFO	material property	male infertility
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004248	"The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." []	4388045	\N	\N	EFO	6	EFO	experimental factor	male infertility
EFO:0004249	\N	\N	"Infections with bacteria of the species NEISSERIA MENINGITIDIS." []	EFO:0004249	"Infections with bacteria of the species NEISSERIA MENINGITIDIS." []	66235	\N	\N	EFO	0	EFO	meningococcal infection	meningococcal infection
EFO:0000771	EFO:0004249	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0004249	"Infections with bacteria of the species NEISSERIA MENINGITIDIS." []	207473	\N	\N	EFO	1	EFO	bacterial disease	meningococcal infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0004249	"Infections with bacteria of the species NEISSERIA MENINGITIDIS." []	560606	\N	\N	EFO	2	EFO	infectious disease	meningococcal infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004249	"Infections with bacteria of the species NEISSERIA MENINGITIDIS." []	1142450	\N	\N	EFO	3	EFO	disease	meningococcal infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004249	"Infections with bacteria of the species NEISSERIA MENINGITIDIS." []	2025276	\N	\N	EFO	4	EFO	disposition	meningococcal infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004249	"Infections with bacteria of the species NEISSERIA MENINGITIDIS." []	3178028	\N	\N	EFO	5	EFO	material property	meningococcal infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004249	"Infections with bacteria of the species NEISSERIA MENINGITIDIS." []	4388046	\N	\N	EFO	6	EFO	experimental factor	meningococcal infection
EFO:0004251	\N	\N	"Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE." []	EFO:0004251	"Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE." []	66236	\N	\N	EFO	0	EFO	myeloproliferative disorder	myeloproliferative disorder
EFO:0000616	EFO:0004251	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004251	"Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE." []	207474	\N	\N	EFO	1	EFO	neoplasm	myeloproliferative disorder
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004251	"Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE." []	560607	\N	\N	EFO	2	EFO	disease	myeloproliferative disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004251	"Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE." []	1142451	\N	\N	EFO	3	EFO	disposition	myeloproliferative disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004251	"Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE." []	2025277	\N	\N	EFO	4	EFO	material property	myeloproliferative disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004251	"Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE." []	3178029	\N	\N	EFO	5	EFO	experimental factor	myeloproliferative disorder
EFO:0004252	\N	\N	"Tumors or cancer of the NASOPHARYNX." []	EFO:0004252	"Tumors or cancer of the NASOPHARYNX." []	66237	\N	\N	EFO	0	EFO	nasopharyngeal neoplasm	nasopharyngeal neoplasm
EFO:0000616	EFO:0004252	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004252	"Tumors or cancer of the NASOPHARYNX." []	207475	\N	\N	EFO	1	EFO	neoplasm	nasopharyngeal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004252	"Tumors or cancer of the NASOPHARYNX." []	560608	\N	\N	EFO	2	EFO	disease	nasopharyngeal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004252	"Tumors or cancer of the NASOPHARYNX." []	1142452	\N	\N	EFO	3	EFO	disposition	nasopharyngeal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004252	"Tumors or cancer of the NASOPHARYNX." []	2025278	\N	\N	EFO	4	EFO	material property	nasopharyngeal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004252	"Tumors or cancer of the NASOPHARYNX." []	3178030	\N	\N	EFO	5	EFO	experimental factor	nasopharyngeal neoplasm
EFO:0004253	\N	\N	"Formation of stones in the KIDNEY." []	EFO:0004253	"Formation of stones in the KIDNEY." []	66238	\N	\N	EFO	0	EFO	nephrolithiasis	nephrolithiasis
EFO:0003086	EFO:0004253	\N	"A disease affecting the kidneys" []	EFO:0004253	"Formation of stones in the KIDNEY." []	207476	\N	\N	EFO	1	EFO	kidney disease	nephrolithiasis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004253	"Formation of stones in the KIDNEY." []	560609	\N	\N	EFO	2	EFO	disease	nephrolithiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004253	"Formation of stones in the KIDNEY." []	1142453	\N	\N	EFO	3	EFO	disposition	nephrolithiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004253	"Formation of stones in the KIDNEY." []	2025279	\N	\N	EFO	4	EFO	material property	nephrolithiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004253	"Formation of stones in the KIDNEY." []	3178031	\N	\N	EFO	5	EFO	experimental factor	nephrolithiasis
EFO:0004254	\N	\N	"A type of glomerulonephritis that is characterized by the accumulation of immune deposits ( COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane." []	EFO:0004254	"A type of glomerulonephritis that is characterized by the accumulation of immune deposits ( COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane." []	66239	\N	\N	EFO	0	EFO	membranous glomerulonephritis	membranous glomerulonephritis
EFO:0003086	EFO:0004254	\N	"A disease affecting the kidneys" []	EFO:0004254	"A type of glomerulonephritis that is characterized by the accumulation of immune deposits ( COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane." []	207477	\N	\N	EFO	1	EFO	kidney disease	membranous glomerulonephritis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004254	"A type of glomerulonephritis that is characterized by the accumulation of immune deposits ( COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane." []	560610	\N	\N	EFO	2	EFO	disease	membranous glomerulonephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004254	"A type of glomerulonephritis that is characterized by the accumulation of immune deposits ( COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane." []	1142454	\N	\N	EFO	3	EFO	disposition	membranous glomerulonephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004254	"A type of glomerulonephritis that is characterized by the accumulation of immune deposits ( COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane." []	2025280	\N	\N	EFO	4	EFO	material property	membranous glomerulonephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004254	"A type of glomerulonephritis that is characterized by the accumulation of immune deposits ( COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane." []	3178032	\N	\N	EFO	5	EFO	experimental factor	membranous glomerulonephritis
EFO:0004255	\N	\N	"A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction." []	EFO:0004255	"A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction." []	66240	\N	\N	EFO	0	EFO	nephrotic syndrome	nephrotic syndrome
EFO:0003086	EFO:0004255	\N	"A disease affecting the kidneys" []	EFO:0004255	"A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction." []	207478	\N	\N	EFO	1	EFO	kidney disease	nephrotic syndrome
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004255	"A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction." []	560611	\N	\N	EFO	2	EFO	disease	nephrotic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004255	"A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction." []	1142455	\N	\N	EFO	3	EFO	disposition	nephrotic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004255	"A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction." []	2025281	\N	\N	EFO	4	EFO	material property	nephrotic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004255	"A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction." []	3178033	\N	\N	EFO	5	EFO	experimental factor	nephrotic syndrome
EFO:0004256	\N	\N	"A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." []	EFO:0004256	"A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." []	66241	\N	\N	EFO	0	EFO	neuromyelitis optica	neuromyelitis optica
EFO:0003885	EFO:0004256	\N	"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)" []	EFO:0004256	"A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." []	207479	\N	\N	EFO	1	EFO	multiple sclerosis	neuromyelitis optica
EFO:0005140	EFO:0003885	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0004256	"A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." []	560612	\N	\N	EFO	2	EFO	autoimmune disease	neuromyelitis optica
EFO:0005774	EFO:0003885	\N	"A disease affecting the brain or part of the brain." []	EFO:0004256	"A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." []	560613	\N	\N	EFO	2	EFO	brain disease	neuromyelitis optica
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004256	"A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." []	1142456	\N	\N	EFO	3	EFO	immune system disease	neuromyelitis optica
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004256	"A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." []	1142457	\N	\N	EFO	3	EFO	nervous system disease	neuromyelitis optica
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004256	"A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." []	2025282	\N	\N	EFO	4	EFO	disease	neuromyelitis optica
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004256	"A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." []	2025283	\N	\N	EFO	4	EFO	disease	neuromyelitis optica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004256	"A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." []	3178034	\N	\N	EFO	5	EFO	disposition	neuromyelitis optica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004256	"A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." []	4388047	\N	\N	EFO	6	EFO	material property	neuromyelitis optica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004256	"A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387)." []	5408735	\N	\N	EFO	7	EFO	experimental factor	neuromyelitis optica
EFO:0004257	\N	\N	"Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment." []	EFO:0004257	"Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment." []	66242	\N	\N	EFO	0	EFO	neurotic disorder	neurotic disorder
EFO:0000677	EFO:0004257	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004257	"Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment." []	207480	\N	\N	EFO	1	EFO	mental or behavioural disorder	neurotic disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004257	"Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment." []	560614	\N	\N	EFO	2	EFO	brain disease	neurotic disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004257	"Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment." []	1142458	\N	\N	EFO	3	EFO	nervous system disease	neurotic disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004257	"Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment." []	2025284	\N	\N	EFO	4	EFO	disease	neurotic disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004257	"Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment." []	3178035	\N	\N	EFO	5	EFO	disposition	neurotic disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004257	"Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment." []	4388048	\N	\N	EFO	6	EFO	material property	neurotic disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004257	"Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment." []	5408736	\N	\N	EFO	7	EFO	experimental factor	neurotic disorder
EFO:0004259	\N	\N	"Death of a bone or part of a bone, either atraumatic or posttraumatic." []	EFO:0004259	"Death of a bone or part of a bone, either atraumatic or posttraumatic." []	66243	\N	\N	EFO	0	EFO	osteonecrosis	osteonecrosis
EFO:0004260	EFO:0004259	\N	"Diseases of BONES." []	EFO:0004259	"Death of a bone or part of a bone, either atraumatic or posttraumatic." []	207481	\N	\N	EFO	1	EFO	bone disease	osteonecrosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0004259	"Death of a bone or part of a bone, either atraumatic or posttraumatic." []	560615	\N	\N	EFO	2	EFO	skeletal system disease	osteonecrosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004259	"Death of a bone or part of a bone, either atraumatic or posttraumatic." []	1142459	\N	\N	EFO	3	EFO	disease	osteonecrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004259	"Death of a bone or part of a bone, either atraumatic or posttraumatic." []	2025285	\N	\N	EFO	4	EFO	disposition	osteonecrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004259	"Death of a bone or part of a bone, either atraumatic or posttraumatic." []	3178036	\N	\N	EFO	5	EFO	material property	osteonecrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004259	"Death of a bone or part of a bone, either atraumatic or posttraumatic." []	4388049	\N	\N	EFO	6	EFO	experimental factor	osteonecrosis
EFO:0004260	\N	\N	"Diseases of BONES." []	EFO:0004260	"Diseases of BONES." []	66244	\N	\N	EFO	0	EFO	bone disease	bone disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0004260	"Diseases of BONES." []	207482	\N	\N	EFO	1	EFO	skeletal system disease	bone disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004260	"Diseases of BONES." []	560616	\N	\N	EFO	2	EFO	disease	bone disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004260	"Diseases of BONES." []	1142460	\N	\N	EFO	3	EFO	disposition	bone disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004260	"Diseases of BONES." []	2025286	\N	\N	EFO	4	EFO	material property	bone disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004260	"Diseases of BONES." []	3178037	\N	\N	EFO	5	EFO	experimental factor	bone disease
EFO:0004261	\N	\N	"A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry." []	EFO:0004261	"A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry." []	66245	\N	\N	EFO	0	EFO	osteitis deformans	osteitis deformans
EFO:0004260	EFO:0004261	\N	"Diseases of BONES." []	EFO:0004261	"A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry." []	207483	\N	\N	EFO	1	EFO	bone disease	osteitis deformans
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0004261	"A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry." []	560617	\N	\N	EFO	2	EFO	skeletal system disease	osteitis deformans
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004261	"A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry." []	1142461	\N	\N	EFO	3	EFO	disease	osteitis deformans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004261	"A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry." []	2025287	\N	\N	EFO	4	EFO	disposition	osteitis deformans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004261	"A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry." []	3178038	\N	\N	EFO	5	EFO	material property	osteitis deformans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004261	"A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry." []	4388050	\N	\N	EFO	6	EFO	experimental factor	osteitis deformans
EFO:0004262	\N	\N	"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." []	EFO:0004262	"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." []	66246	\N	\N	EFO	0	EFO	panic disorder	panic disorder
EFO:0006788	EFO:0004262	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:0004262	"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." []	207484	\N	\N	EFO	1	EFO	anxiety disorder	panic disorder
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004262	"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." []	560618	\N	\N	EFO	2	EFO	mental or behavioural disorder	panic disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004262	"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." []	1142462	\N	\N	EFO	3	EFO	brain disease	panic disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004262	"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." []	2025288	\N	\N	EFO	4	EFO	nervous system disease	panic disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004262	"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." []	3178039	\N	\N	EFO	5	EFO	disease	panic disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004262	"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." []	4388051	\N	\N	EFO	6	EFO	disposition	panic disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004262	"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." []	5408737	\N	\N	EFO	7	EFO	material property	panic disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004262	"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." []	6147487	\N	\N	EFO	8	EFO	experimental factor	panic disorder
EFO:0004263	\N	\N	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	EFO:0004263	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	66247	\N	\N	EFO	0	EFO	partial epilepsy	partial epilepsy
EFO:0000474	EFO:0004263	\N	"A disorder characterized by recurrent seizures" []	EFO:0004263	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	207485	\N	\N	EFO	1	EFO	epilepsy	partial epilepsy
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:0004263	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	560619	\N	\N	EFO	2	EFO	brain disease	partial epilepsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004263	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	1142463	\N	\N	EFO	3	EFO	nervous system disease	partial epilepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004263	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	2025289	\N	\N	EFO	4	EFO	disease	partial epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004263	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	3178040	\N	\N	EFO	5	EFO	disposition	partial epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004263	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	4388052	\N	\N	EFO	6	EFO	material property	partial epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004263	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	5408738	\N	\N	EFO	7	EFO	experimental factor	partial epilepsy
EFO:0004264	\N	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0004264	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	66248	\N	\N	EFO	0	EFO	vascular disease	vascular disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004264	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	207486	\N	\N	EFO	1	EFO	cardiovascular disease	vascular disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004264	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	560620	\N	\N	EFO	2	EFO	disease	vascular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004264	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	1142464	\N	\N	EFO	3	EFO	disposition	vascular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004264	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	2025290	\N	\N	EFO	4	EFO	material property	vascular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004264	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	3178041	\N	\N	EFO	5	EFO	experimental factor	vascular disease
EFO:0004265	\N	\N	"Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less." []	EFO:0004265	"Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less." []	66249	\N	\N	EFO	0	EFO	peripheral arterial disease	peripheral arterial disease
EFO:0003875	EFO:0004265	\N	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	EFO:0004265	"Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less." []	207487	\N	\N	EFO	1	EFO	peripheral vascular disease	peripheral arterial disease
EFO:0004264	EFO:0003875	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0004265	"Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less." []	560621	\N	\N	EFO	2	EFO	vascular disease	peripheral arterial disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004265	"Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less." []	1142465	\N	\N	EFO	3	EFO	cardiovascular disease	peripheral arterial disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004265	"Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less." []	2025291	\N	\N	EFO	4	EFO	disease	peripheral arterial disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004265	"Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less." []	3178042	\N	\N	EFO	5	EFO	disposition	peripheral arterial disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004265	"Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less." []	4388053	\N	\N	EFO	6	EFO	material property	peripheral arterial disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004265	"Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less." []	5408739	\N	\N	EFO	7	EFO	experimental factor	peripheral arterial disease
EFO:0004266	\N	\N	"Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections." []	EFO:0004266	"Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections." []	66250	\N	\N	EFO	0	EFO	primary ovarian insufficiency	primary ovarian insufficiency
EFO:0001379	EFO:0004266	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0004266	"Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections." []	207488	\N	\N	EFO	1	EFO	endocrine system disease	primary ovarian insufficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004266	"Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections." []	560622	\N	\N	EFO	2	EFO	disease	primary ovarian insufficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004266	"Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections." []	1142466	\N	\N	EFO	3	EFO	disposition	primary ovarian insufficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004266	"Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections." []	2025292	\N	\N	EFO	4	EFO	material property	primary ovarian insufficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004266	"Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections." []	3178043	\N	\N	EFO	5	EFO	experimental factor	primary ovarian insufficiency
EFO:0004267	\N	\N	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	66251	\N	\N	EFO	0	EFO	biliary liver cirrhosis	biliary liver cirrhosis
EFO:0001422	EFO:0004267	\N	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	207489	\N	\N	EFO	1	EFO	cirrhosis of liver	biliary liver cirrhosis
EFO:0006890	EFO:0001422	\N	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	560623	\N	\N	EFO	2	EFO	fibrosis	biliary liver cirrhosis
EFO:1001513	EFO:0001422	\N	"Tumors or cancers of the LIVER." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	560624	\N	\N	EFO	2	EFO	liver neoplasm	biliary liver cirrhosis
EFO:0000616	EFO:0006890	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	1142467	\N	\N	EFO	3	EFO	neoplasm	biliary liver cirrhosis
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	1142468	\N	\N	EFO	3	EFO	liver disease	biliary liver cirrhosis
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	1142469	\N	\N	EFO	3	EFO	endocrine neoplasm	biliary liver cirrhosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	3178047	\N	\N	EFO	5	EFO	disease	biliary liver cirrhosis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	2025294	\N	\N	EFO	4	EFO	digestive system disease	biliary liver cirrhosis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	2025295	\N	\N	EFO	4	EFO	endocrine system disease	biliary liver cirrhosis
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	2025296	\N	\N	EFO	4	EFO	neoplasm	biliary liver cirrhosis
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	2025297	\N	\N	EFO	4	EFO	endocrine system disease	biliary liver cirrhosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	4132656	\N	\N	EFO	6	EFO	disposition	biliary liver cirrhosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	3178045	\N	\N	EFO	5	EFO	disease	biliary liver cirrhosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	3178046	\N	\N	EFO	5	EFO	disease	biliary liver cirrhosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	5180977	\N	\N	EFO	7	EFO	material property	biliary liver cirrhosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004267	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	5996597	\N	\N	EFO	8	EFO	experimental factor	biliary liver cirrhosis
EFO:0004268	\N	\N	"Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS." []	EFO:0004268	"Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS." []	66252	\N	\N	EFO	0	EFO	sclerosing cholangitis	sclerosing cholangitis
EFO:0000405	EFO:0004268	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0004268	"Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS." []	207490	\N	\N	EFO	1	EFO	digestive system disease	sclerosing cholangitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004268	"Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS." []	560625	\N	\N	EFO	2	EFO	disease	sclerosing cholangitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004268	"Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS." []	1142470	\N	\N	EFO	3	EFO	disposition	sclerosing cholangitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004268	"Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS." []	2025298	\N	\N	EFO	4	EFO	material property	sclerosing cholangitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004268	"Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS." []	3178048	\N	\N	EFO	5	EFO	experimental factor	sclerosing cholangitis
EFO:0004269	\N	\N	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	EFO:0004269	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	66253	\N	\N	EFO	0	EFO	cardiac arrhythmia	cardiac arrhythmia
EFO:0003777	EFO:0004269	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0004269	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	207491	\N	\N	EFO	1	EFO	heart disease	cardiac arrhythmia
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004269	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	560626	\N	\N	EFO	2	EFO	cardiovascular disease	cardiac arrhythmia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004269	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	1142471	\N	\N	EFO	3	EFO	disease	cardiac arrhythmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004269	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	2025299	\N	\N	EFO	4	EFO	disposition	cardiac arrhythmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004269	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	3178049	\N	\N	EFO	5	EFO	material property	cardiac arrhythmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004269	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	4388055	\N	\N	EFO	6	EFO	experimental factor	cardiac arrhythmia
EFO:0004270	\N	\N	"A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. This condition may be associated with UREMIA; DIABETES MELLITUS; and rheumatoid arthritis. Restless Legs Syndrome differs from NOCTURNAL MYOCLONUS SYNDROME in that in the latter condition the individual does not report adverse sensory stimuli and it is primarily a sleep-associated movement disorder. (Adams et al., Principles of Neurology, 6th ed, p387; Schweiz Rundsch Med Prax 1997 Apr 30;86(18):732-736)." []	EFO:0004270	"A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. This condition may be associated with UREMIA; DIABETES MELLITUS; and rheumatoid arthritis. Restless Legs Syndrome differs from NOCTURNAL MYOCLONUS SYNDROME in that in the latter condition the individual does not report adverse sensory stimuli and it is primarily a sleep-associated movement disorder. (Adams et al., Principles of Neurology, 6th ed, p387; Schweiz Rundsch Med Prax 1997 Apr 30;86(18):732-736)." []	66254	\N	\N	EFO	0	EFO	restless legs syndrome	restless legs syndrome
EFO:0000618	EFO:0004270	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004270	"A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. This condition may be associated with UREMIA; DIABETES MELLITUS; and rheumatoid arthritis. Restless Legs Syndrome differs from NOCTURNAL MYOCLONUS SYNDROME in that in the latter condition the individual does not report adverse sensory stimuli and it is primarily a sleep-associated movement disorder. (Adams et al., Principles of Neurology, 6th ed, p387; Schweiz Rundsch Med Prax 1997 Apr 30;86(18):732-736)." []	207492	\N	\N	EFO	1	EFO	nervous system disease	restless legs syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004270	"A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. This condition may be associated with UREMIA; DIABETES MELLITUS; and rheumatoid arthritis. Restless Legs Syndrome differs from NOCTURNAL MYOCLONUS SYNDROME in that in the latter condition the individual does not report adverse sensory stimuli and it is primarily a sleep-associated movement disorder. (Adams et al., Principles of Neurology, 6th ed, p387; Schweiz Rundsch Med Prax 1997 Apr 30;86(18):732-736)." []	560627	\N	\N	EFO	2	EFO	disease	restless legs syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004270	"A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. This condition may be associated with UREMIA; DIABETES MELLITUS; and rheumatoid arthritis. Restless Legs Syndrome differs from NOCTURNAL MYOCLONUS SYNDROME in that in the latter condition the individual does not report adverse sensory stimuli and it is primarily a sleep-associated movement disorder. (Adams et al., Principles of Neurology, 6th ed, p387; Schweiz Rundsch Med Prax 1997 Apr 30;86(18):732-736)." []	1142472	\N	\N	EFO	3	EFO	disposition	restless legs syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004270	"A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. This condition may be associated with UREMIA; DIABETES MELLITUS; and rheumatoid arthritis. Restless Legs Syndrome differs from NOCTURNAL MYOCLONUS SYNDROME in that in the latter condition the individual does not report adverse sensory stimuli and it is primarily a sleep-associated movement disorder. (Adams et al., Principles of Neurology, 6th ed, p387; Schweiz Rundsch Med Prax 1997 Apr 30;86(18):732-736)." []	2025300	\N	\N	EFO	4	EFO	material property	restless legs syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004270	"A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. This condition may be associated with UREMIA; DIABETES MELLITUS; and rheumatoid arthritis. Restless Legs Syndrome differs from NOCTURNAL MYOCLONUS SYNDROME in that in the latter condition the individual does not report adverse sensory stimuli and it is primarily a sleep-associated movement disorder. (Adams et al., Principles of Neurology, 6th ed, p387; Schweiz Rundsch Med Prax 1997 Apr 30;86(18):732-736)." []	3178050	\N	\N	EFO	5	EFO	experimental factor	restless legs syndrome
EFO:0004272	\N	\N	"A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin." []	EFO:0004272	"A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin." []	66255	\N	\N	EFO	0	EFO	anemia	anemia
HP:0001871	\N	\N	"An abnormality of the hematopoietic system." [HPO:probinson]	EFO:0004272	"A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin." []	194658	\N	\N	EFO	0	EFO	Abnormality of blood and blood-forming tissues	anemia
EFO:0004273	\N	\N	"An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)" []	EFO:0004273	"An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)" []	66256	\N	\N	EFO	0	EFO	scoliosis	scoliosis
EFO:0002461	EFO:0004273	\N	"Any disease which affects part of the skeletal system." []	EFO:0004273	"An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)" []	207493	\N	\N	EFO	1	EFO	skeletal system disease	scoliosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004273	"An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)" []	560628	\N	\N	EFO	2	EFO	disease	scoliosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004273	"An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)" []	1142473	\N	\N	EFO	3	EFO	disposition	scoliosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004273	"An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)" []	2025301	\N	\N	EFO	4	EFO	material property	scoliosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004273	"An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)" []	3178051	\N	\N	EFO	5	EFO	experimental factor	scoliosis
EFO:0004274	\N	\N	"metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout his partly genetic." []	EFO:0004274	"metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout his partly genetic." []	66257	\N	\N	EFO	0	EFO	gout	gout
EFO:0005856	EFO:0004274	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:0004274	"metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout his partly genetic." []	207494	\N	\N	EFO	1	EFO	arthritis	gout
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0004274	"metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout his partly genetic." []	560629	\N	\N	EFO	2	EFO	autoimmune disease	gout
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0004274	"metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout his partly genetic." []	560630	\N	\N	EFO	2	EFO	rheumatic disease	gout
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004274	"metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout his partly genetic." []	1142474	\N	\N	EFO	3	EFO	immune system disease	gout
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0004274	"metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout his partly genetic." []	1142475	\N	\N	EFO	3	EFO	skeletal system disease	gout
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004274	"metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout his partly genetic." []	2025302	\N	\N	EFO	4	EFO	disease	gout
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004274	"metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout his partly genetic." []	2025303	\N	\N	EFO	4	EFO	disease	gout
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004274	"metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout his partly genetic." []	3178052	\N	\N	EFO	5	EFO	disposition	gout
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004274	"metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout his partly genetic." []	4388056	\N	\N	EFO	6	EFO	material property	gout
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004274	"metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout his partly genetic." []	5408741	\N	\N	EFO	7	EFO	experimental factor	gout
EFO:0004276	\N	\N	"A variant of bullous erythema multiforme. It ranges from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic disorder. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis, and sometimes blindness. The cause of the disease is unknown." []	EFO:0004276	"A variant of bullous erythema multiforme. It ranges from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic disorder. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis, and sometimes blindness. The cause of the disease is unknown." []	66258	\N	\N	EFO	0	EFO	Stevens-Johnson syndrome	Stevens-Johnson syndrome
EFO:0006346	EFO:0004276	\N	"Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis." []	EFO:0004276	"A variant of bullous erythema multiforme. It ranges from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic disorder. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis, and sometimes blindness. The cause of the disease is unknown." []	207495	\N	\N	EFO	1	EFO	severe cutaneous adverse reaction	Stevens-Johnson syndrome
EFO:0000701	EFO:0006346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0004276	"A variant of bullous erythema multiforme. It ranges from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic disorder. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis, and sometimes blindness. The cause of the disease is unknown." []	560631	\N	\N	EFO	2	EFO	skin disease	Stevens-Johnson syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004276	"A variant of bullous erythema multiforme. It ranges from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic disorder. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis, and sometimes blindness. The cause of the disease is unknown." []	1142476	\N	\N	EFO	3	EFO	disease	Stevens-Johnson syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004276	"A variant of bullous erythema multiforme. It ranges from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic disorder. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis, and sometimes blindness. The cause of the disease is unknown." []	2025304	\N	\N	EFO	4	EFO	disposition	Stevens-Johnson syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004276	"A variant of bullous erythema multiforme. It ranges from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic disorder. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis, and sometimes blindness. The cause of the disease is unknown." []	3178053	\N	\N	EFO	5	EFO	material property	Stevens-Johnson syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004276	"A variant of bullous erythema multiforme. It ranges from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic disorder. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis, and sometimes blindness. The cause of the disease is unknown." []	4388057	\N	\N	EFO	6	EFO	experimental factor	Stevens-Johnson syndrome
EFO:0004277	\N	\N	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	EFO:0004277	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	66259	\N	\N	EFO	0	EFO	brain infarction	brain infarction
EFO:0003763	EFO:0004277	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0004277	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	207496	\N	\N	EFO	1	EFO	cerebrovascular disorder	brain infarction
EFO:0005774	EFO:0004277	\N	"A disease affecting the brain or part of the brain." []	EFO:0004277	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	207497	\N	\N	EFO	1	EFO	brain disease	brain infarction
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0004277	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	560632	\N	\N	EFO	2	EFO	vascular disease	brain infarction
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004277	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	560633	\N	\N	EFO	2	EFO	nervous system disease	brain infarction
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004277	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	1142477	\N	\N	EFO	3	EFO	cardiovascular disease	brain infarction
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004277	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	1142478	\N	\N	EFO	3	EFO	disease	brain infarction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004277	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	2025305	\N	\N	EFO	4	EFO	disease	brain infarction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004277	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	3178054	\N	\N	EFO	5	EFO	disposition	brain infarction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004277	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	4132657	\N	\N	EFO	6	EFO	material property	brain infarction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004277	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	5180978	\N	\N	EFO	7	EFO	experimental factor	brain infarction
EFO:0004278	\N	\N	"Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)" []	EFO:0004278	"Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)" []	66260	\N	\N	EFO	0	EFO	sudden cardiac arrest	sudden cardiac arrest
EFO:0004269	EFO:0004278	\N	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	EFO:0004278	"Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)" []	207498	\N	\N	EFO	1	EFO	cardiac arrhythmia	sudden cardiac arrest
EFO:0003777	EFO:0004269	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0004278	"Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)" []	560634	\N	\N	EFO	2	EFO	heart disease	sudden cardiac arrest
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004278	"Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)" []	1142479	\N	\N	EFO	3	EFO	cardiovascular disease	sudden cardiac arrest
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004278	"Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)" []	2025307	\N	\N	EFO	4	EFO	disease	sudden cardiac arrest
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004278	"Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)" []	3178056	\N	\N	EFO	5	EFO	disposition	sudden cardiac arrest
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004278	"Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)" []	4388059	\N	\N	EFO	6	EFO	material property	sudden cardiac arrest
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004278	"Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)" []	5408742	\N	\N	EFO	7	EFO	experimental factor	sudden cardiac arrest
EFO:0004279	\N	\N	"An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors." []	EFO:0004279	"An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors." []	66261	\N	\N	EFO	0	EFO	suntan	suntan
EFO:0003784	EFO:0004279	\N	"Coloration of the skin." []	EFO:0004279	"An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors." []	207499	\N	\N	EFO	1	EFO	skin pigmentation	suntan
EFO:0000651	EFO:0003784	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0004279	"An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors." []	560635	\N	\N	EFO	2	EFO	phenotype	suntan
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004279	"An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors." []	1142480	\N	\N	EFO	3	EFO	quality	suntan
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004279	"An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors." []	2025308	\N	\N	EFO	4	EFO	material property	suntan
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004279	"An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors." []	3178057	\N	\N	EFO	5	EFO	experimental factor	suntan
EFO:0004280	\N	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	EFO:0004280	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	66262	\N	\N	EFO	0	EFO	movement disorder	movement disorder
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004280	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	207500	\N	\N	EFO	1	EFO	nervous system disease	movement disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004280	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	560636	\N	\N	EFO	2	EFO	disease	movement disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004280	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	1142481	\N	\N	EFO	3	EFO	disposition	movement disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004280	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	2025309	\N	\N	EFO	4	EFO	material property	movement disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004280	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	3178058	\N	\N	EFO	5	EFO	experimental factor	movement disorder
EFO:0004281	\N	\N	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	EFO:0004281	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	66263	\N	\N	EFO	0	EFO	testicular neoplasm	testicular neoplasm
EFO:0003863	EFO:0004281	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0004281	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	207501	\N	\N	EFO	1	EFO	urogenital neoplasm	testicular neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004281	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	560637	\N	\N	EFO	2	EFO	neoplasm	testicular neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004281	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	1142482	\N	\N	EFO	3	EFO	disease	testicular neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004281	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	2025310	\N	\N	EFO	4	EFO	disposition	testicular neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004281	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	3178059	\N	\N	EFO	5	EFO	material property	testicular neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004281	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	4388060	\N	\N	EFO	6	EFO	experimental factor	testicular neoplasm
EFO:0004282	\N	\N	"An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm." []	EFO:0004282	"An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm." []	66264	\N	\N	EFO	0	EFO	thoracic aortic aneurysm	thoracic aortic aneurysm
EFO:0001666	EFO:0004282	\N	"protruding sac formed by dilation of the aorta" []	EFO:0004282	"An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm." []	207502	\N	\N	EFO	1	EFO	aortic aneurysm	thoracic aortic aneurysm
EFO:0005775	EFO:0001666	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:0004282	"An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm." []	560638	\N	\N	EFO	2	EFO	aortic disease	thoracic aortic aneurysm
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0004282	"An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm." []	1142483	\N	\N	EFO	3	EFO	vascular disease	thoracic aortic aneurysm
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004282	"An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm." []	2025311	\N	\N	EFO	4	EFO	cardiovascular disease	thoracic aortic aneurysm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004282	"An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm." []	3178060	\N	\N	EFO	5	EFO	disease	thoracic aortic aneurysm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004282	"An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm." []	4388061	\N	\N	EFO	6	EFO	disposition	thoracic aortic aneurysm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004282	"An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm." []	5408743	\N	\N	EFO	7	EFO	material property	thoracic aortic aneurysm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004282	"An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm." []	6147488	\N	\N	EFO	8	EFO	experimental factor	thoracic aortic aneurysm
EFO:0004283	\N	\N	"Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." []	EFO:0004283	"Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." []	66265	\N	\N	EFO	0	EFO	goiter	goiter
EFO:0001379	EFO:0004283	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0004283	"Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." []	207503	\N	\N	EFO	1	EFO	endocrine system disease	goiter
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004283	"Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." []	560639	\N	\N	EFO	2	EFO	disease	goiter
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004283	"Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." []	1142484	\N	\N	EFO	3	EFO	disposition	goiter
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004283	"Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." []	2025312	\N	\N	EFO	4	EFO	material property	goiter
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004283	"Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." []	3178061	\N	\N	EFO	5	EFO	experimental factor	goiter
EFO:0004284	\N	\N	"Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" []	EFO:0004284	"Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" []	66266	\N	\N	EFO	0	EFO	upper aerodigestive tract neoplasm	upper aerodigestive tract neoplasm
EFO:0000405	EFO:0004284	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0004284	"Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" []	207504	\N	\N	EFO	1	EFO	digestive system disease	upper aerodigestive tract neoplasm
EFO:0000616	EFO:0004284	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004284	"Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" []	207505	\N	\N	EFO	1	EFO	neoplasm	upper aerodigestive tract neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004284	"Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" []	560640	\N	\N	EFO	2	EFO	disease	upper aerodigestive tract neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004284	"Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" []	560641	\N	\N	EFO	2	EFO	disease	upper aerodigestive tract neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004284	"Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" []	1142485	\N	\N	EFO	3	EFO	disposition	upper aerodigestive tract neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004284	"Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" []	2025313	\N	\N	EFO	4	EFO	material property	upper aerodigestive tract neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004284	"Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" []	3178062	\N	\N	EFO	5	EFO	experimental factor	upper aerodigestive tract neoplasm
EFO:0004285	\N	\N	"The presence of albumin in the urine, an indicator of KIDNEY DISEASES." []	EFO:0004285	"The presence of albumin in the urine, an indicator of KIDNEY DISEASES." []	66267	\N	\N	EFO	0	EFO	albuminuria	albuminuria
HP:0000093	\N	\N	"Increased levels of protein in the urine." [HPO:probinson]	EFO:0004285	"The presence of albumin in the urine, an indicator of KIDNEY DISEASES." []	194659	\N	\N	EFO	0	EFO	Proteinuria	albuminuria
EFO:0004286	\N	\N	"Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream." []	EFO:0004286	"Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream." []	66268	\N	\N	EFO	0	EFO	venous thromboembolism	venous thromboembolism
EFO:0004264	EFO:0004286	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0004286	"Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream." []	207506	\N	\N	EFO	1	EFO	vascular disease	venous thromboembolism
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004286	"Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream." []	560642	\N	\N	EFO	2	EFO	cardiovascular disease	venous thromboembolism
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004286	"Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream." []	1142486	\N	\N	EFO	3	EFO	disease	venous thromboembolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004286	"Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream." []	2025314	\N	\N	EFO	4	EFO	disposition	venous thromboembolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004286	"Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream." []	3178063	\N	\N	EFO	5	EFO	material property	venous thromboembolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004286	"Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream." []	4388062	\N	\N	EFO	6	EFO	experimental factor	venous thromboembolism
EFO:0004287	\N	\N	"A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST." []	EFO:0004287	"A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST." []	66269	\N	\N	EFO	0	EFO	ventricular fibrillation	ventricular fibrillation
EFO:0004269	EFO:0004287	\N	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	EFO:0004287	"A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST." []	207507	\N	\N	EFO	1	EFO	cardiac arrhythmia	ventricular fibrillation
EFO:0003777	EFO:0004269	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0004287	"A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST." []	560643	\N	\N	EFO	2	EFO	heart disease	ventricular fibrillation
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004287	"A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST." []	1142487	\N	\N	EFO	3	EFO	cardiovascular disease	ventricular fibrillation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004287	"A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST." []	2025315	\N	\N	EFO	4	EFO	disease	ventricular fibrillation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004287	"A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST." []	3178064	\N	\N	EFO	5	EFO	disposition	ventricular fibrillation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004287	"A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST." []	4388063	\N	\N	EFO	6	EFO	material property	ventricular fibrillation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004287	"A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST." []	5408744	\N	\N	EFO	7	EFO	experimental factor	ventricular fibrillation
EFO:0004288	\N	\N	"Tumors or cancer of the COLON." []	EFO:0004288	"Tumors or cancer of the COLON." []	66270	\N	\N	EFO	0	EFO	colonic neoplasm	colonic neoplasm
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0004288	"Tumors or cancer of the COLON." []	207508	\N	\N	EFO	1	EFO	digestive system disease	colonic neoplasm
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004288	"Tumors or cancer of the COLON." []	207509	\N	\N	EFO	1	EFO	neoplasm	colonic neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004288	"Tumors or cancer of the COLON." []	560644	\N	\N	EFO	2	EFO	disease	colonic neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004288	"Tumors or cancer of the COLON." []	560645	\N	\N	EFO	2	EFO	disease	colonic neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004288	"Tumors or cancer of the COLON." []	1142488	\N	\N	EFO	3	EFO	disposition	colonic neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004288	"Tumors or cancer of the COLON." []	2025316	\N	\N	EFO	4	EFO	material property	colonic neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004288	"Tumors or cancer of the COLON." []	3178065	\N	\N	EFO	5	EFO	experimental factor	colonic neoplasm
EFO:0004289	\N	\N	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	EFO:0004289	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	66271	\N	\N	EFO	0	EFO	lymphoid leukemia	lymphoid leukemia
EFO:0000565	EFO:0004289	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0004289	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	207510	\N	\N	EFO	1	EFO	leukemia	lymphoid leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0004289	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	560646	\N	\N	EFO	2	EFO	lymphoid neoplasm	lymphoid leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0004289	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	1142489	\N	\N	EFO	3	EFO	cancer	lymphoid leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0004289	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	1142490	\N	\N	EFO	3	EFO	hematological system disease	lymphoid leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004289	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	2025317	\N	\N	EFO	4	EFO	neoplasm	lymphoid leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004289	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	2025318	\N	\N	EFO	4	EFO	disease	lymphoid leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004289	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	3178066	\N	\N	EFO	5	EFO	disease	lymphoid leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004289	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	4388064	\N	\N	EFO	6	EFO	disposition	lymphoid leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004289	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	5180979	\N	\N	EFO	7	EFO	material property	lymphoid leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004289	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	5996598	\N	\N	EFO	8	EFO	experimental factor	lymphoid leukemia
EFO:0004291	\N	\N	"Orthopedic appliances used to support, align, or hold parts of the body in correct position. (Dorland, 28th ed)." []	EFO:0004291	"Orthopedic appliances used to support, align, or hold parts of the body in correct position. (Dorland, 28th ed)." []	66272	\N	\N	EFO	0	EFO	braces	braces
EFO:0000548	EFO:0004291	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004291	"Orthopedic appliances used to support, align, or hold parts of the body in correct position. (Dorland, 28th ed)." []	207511	\N	\N	EFO	1	EFO	instrument	braces
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004291	"Orthopedic appliances used to support, align, or hold parts of the body in correct position. (Dorland, 28th ed)." []	560647	\N	\N	EFO	2	EFO	material entity	braces
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004291	"Orthopedic appliances used to support, align, or hold parts of the body in correct position. (Dorland, 28th ed)." []	1142491	\N	\N	EFO	3	EFO	experimental factor	braces
EFO:0004292	\N	\N	"Vaccination is: a process' that involves in adding vaccine into a host (e.g., human, mouse) in vivo with the intend to invoke a protective immune response." []	EFO:0004292	"Vaccination is: a process' that involves in adding vaccine into a host (e.g., human, mouse) in vivo with the intend to invoke a protective immune response." []	66273	\N	\N	EFO	0	EFO	vaccination	vaccination
EFO:0004542	EFO:0004292	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004292	"Vaccination is: a process' that involves in adding vaccine into a host (e.g., human, mouse) in vivo with the intend to invoke a protective immune response." []	207512	\N	\N	EFO	1	EFO	planned process	vaccination
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004292	"Vaccination is: a process' that involves in adding vaccine into a host (e.g., human, mouse) in vivo with the intend to invoke a protective immune response." []	560648	\N	\N	EFO	2	EFO	process	vaccination
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004292	"Vaccination is: a process' that involves in adding vaccine into a host (e.g., human, mouse) in vivo with the intend to invoke a protective immune response." []	1142492	\N	\N	EFO	3	EFO	experimental factor	vaccination
EFO:0004293	\N	\N	"Production of new arrangements ofDNAby various mechanisms such as assortment and segregation,CROSSING OVER;GENE CONVERSION;GENETIC TRANSFORMATION;GENETIC CONJUGATION;GENETIC TRANSDUCTION; or mixed infection of viruses." []	EFO:0004293	"Production of new arrangements ofDNAby various mechanisms such as assortment and segregation,CROSSING OVER;GENE CONVERSION;GENETIC TRANSFORMATION;GENETIC CONJUGATION;GENETIC TRANSDUCTION; or mixed infection of viruses." []	66274	\N	\N	EFO	0	EFO	recombination	recombination
EFO:0000510	EFO:0004293	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004293	"Production of new arrangements ofDNAby various mechanisms such as assortment and segregation,CROSSING OVER;GENE CONVERSION;GENETIC TRANSFORMATION;GENETIC CONJUGATION;GENETIC TRANSDUCTION; or mixed infection of viruses." []	207513	\N	\N	EFO	1	EFO	genetic modification	recombination
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004293	"Production of new arrangements ofDNAby various mechanisms such as assortment and segregation,CROSSING OVER;GENE CONVERSION;GENETIC TRANSFORMATION;GENETIC CONJUGATION;GENETIC TRANSDUCTION; or mixed infection of viruses." []	560649	\N	\N	EFO	2	EFO	experimental process	recombination
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004293	"Production of new arrangements ofDNAby various mechanisms such as assortment and segregation,CROSSING OVER;GENE CONVERSION;GENETIC TRANSFORMATION;GENETIC CONJUGATION;GENETIC TRANSDUCTION; or mixed infection of viruses." []	1142493	\N	\N	EFO	3	EFO	planned process	recombination
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004293	"Production of new arrangements ofDNAby various mechanisms such as assortment and segregation,CROSSING OVER;GENE CONVERSION;GENETIC TRANSFORMATION;GENETIC CONJUGATION;GENETIC TRANSDUCTION; or mixed infection of viruses." []	2025319	\N	\N	EFO	4	EFO	process	recombination
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004293	"Production of new arrangements ofDNAby various mechanisms such as assortment and segregation,CROSSING OVER;GENE CONVERSION;GENETIC TRANSFORMATION;GENETIC CONJUGATION;GENETIC TRANSDUCTION; or mixed infection of viruses." []	3178068	\N	\N	EFO	5	EFO	experimental factor	recombination
EFO:0004294	\N	\N	"The hemodynamic and electrophysiological action of theLEFT ATRIUM." []	EFO:0004294	"The hemodynamic and electrophysiological action of theLEFT ATRIUM." []	66275	\N	\N	EFO	0	EFO	left atrial function	left atrial function
BFO:0000034	EFO:0004294	\N	"A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for.  For example," []	EFO:0004294	"The hemodynamic and electrophysiological action of theLEFT ATRIUM." []	207514	\N	\N	EFO	1	EFO	function	left atrial function
BFO:0000020	BFO:0000034	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004294	"The hemodynamic and electrophysiological action of theLEFT ATRIUM." []	560650	\N	\N	EFO	2	EFO	material property	left atrial function
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004294	"The hemodynamic and electrophysiological action of theLEFT ATRIUM." []	1142494	\N	\N	EFO	3	EFO	experimental factor	left atrial function
EFO:0004295	\N	\N	"The hemodynamic and electrophysiological action of the leftHEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance." []	EFO:0004295	"The hemodynamic and electrophysiological action of the leftHEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance." []	66276	\N	\N	EFO	0	EFO	left ventricular function	left ventricular function
BFO:0000034	EFO:0004295	\N	"A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for.  For example," []	EFO:0004295	"The hemodynamic and electrophysiological action of the leftHEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance." []	207515	\N	\N	EFO	1	EFO	function	left ventricular function
BFO:0000020	BFO:0000034	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004295	"The hemodynamic and electrophysiological action of the leftHEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance." []	560651	\N	\N	EFO	2	EFO	material property	left ventricular function
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004295	"The hemodynamic and electrophysiological action of the leftHEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance." []	1142495	\N	\N	EFO	3	EFO	experimental factor	left ventricular function
EFO:0004296	\N	\N	"Physiological activity and functions of the highly vascular thyroid gland, such as producing the thyroid hormones which are concerned in regulating the metabolic rate of the body." []	EFO:0004296	"Physiological activity and functions of the highly vascular thyroid gland, such as producing the thyroid hormones which are concerned in regulating the metabolic rate of the body." []	66277	\N	\N	EFO	0	EFO	thyroid function	thyroid function
BFO:0000034	EFO:0004296	\N	"A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for.  For example," []	EFO:0004296	"Physiological activity and functions of the highly vascular thyroid gland, such as producing the thyroid hormones which are concerned in regulating the metabolic rate of the body." []	207516	\N	\N	EFO	1	EFO	function	thyroid function
BFO:0000020	BFO:0000034	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004296	"Physiological activity and functions of the highly vascular thyroid gland, such as producing the thyroid hormones which are concerned in regulating the metabolic rate of the body." []	560652	\N	\N	EFO	2	EFO	material property	thyroid function
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004296	"Physiological activity and functions of the highly vascular thyroid gland, such as producing the thyroid hormones which are concerned in regulating the metabolic rate of the body." []	1142496	\N	\N	EFO	3	EFO	experimental factor	thyroid function
EFO:0004297	\N	\N	"A clinical laboratory measurement is a measurement of some entity e.g. erythrocyte count or metabolite panel which is used in the process of clinical diagnosis in human patients" []	EFO:0004297	"A clinical laboratory measurement is a measurement of some entity e.g. erythrocyte count or metabolite panel which is used in the process of clinical diagnosis in human patients" []	66278	\N	\N	EFO	0	EFO	clinical laboratory measurement	clinical laboratory measurement
EFO:0001444	EFO:0004297	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004297	"A clinical laboratory measurement is a measurement of some entity e.g. erythrocyte count or metabolite panel which is used in the process of clinical diagnosis in human patients" []	207517	\N	\N	EFO	1	EFO	measurement	clinical laboratory measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004297	"A clinical laboratory measurement is a measurement of some entity e.g. erythrocyte count or metabolite panel which is used in the process of clinical diagnosis in human patients" []	560653	\N	\N	EFO	2	EFO	information entity	clinical laboratory measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004297	"A clinical laboratory measurement is a measurement of some entity e.g. erythrocyte count or metabolite panel which is used in the process of clinical diagnosis in human patients" []	1142497	\N	\N	EFO	3	EFO	experimental factor	clinical laboratory measurement
EFO:0004298	\N	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004298	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	66279	\N	\N	EFO	0	EFO	cardiovascular measurement	cardiovascular measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004298	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	207518	\N	\N	EFO	1	EFO	measurement	cardiovascular measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004298	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	560654	\N	\N	EFO	2	EFO	information entity	cardiovascular measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004298	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	1142498	\N	\N	EFO	3	EFO	experimental factor	cardiovascular measurement
EFO:0004299	\N	\N	"Based on known statistical data, the number of years which any person of a given age may reasonably be expected to live." []	EFO:0004299	"Based on known statistical data, the number of years which any person of a given age may reasonably be expected to live." []	66280	\N	\N	EFO	0	EFO	life expectancy	life expectancy
EFO:0000719	EFO:0004299	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004299	"Based on known statistical data, the number of years which any person of a given age may reasonably be expected to live." []	207519	\N	\N	EFO	1	EFO	temporal measurement	life expectancy
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004299	"Based on known statistical data, the number of years which any person of a given age may reasonably be expected to live." []	560655	\N	\N	EFO	2	EFO	measurement	life expectancy
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004299	"Based on known statistical data, the number of years which any person of a given age may reasonably be expected to live." []	1142499	\N	\N	EFO	3	EFO	information entity	life expectancy
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004299	"Based on known statistical data, the number of years which any person of a given age may reasonably be expected to live." []	2025320	\N	\N	EFO	4	EFO	experimental factor	life expectancy
EFO:0004300	\N	\N	"The  length of time of an organism's life." []	EFO:0004300	"The  length of time of an organism's life." []	66281	\N	\N	EFO	0	EFO	longevity	longevity
EFO:0000719	EFO:0004300	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004300	"The  length of time of an organism's life." []	207520	\N	\N	EFO	1	EFO	temporal measurement	longevity
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004300	"The  length of time of an organism's life." []	560656	\N	\N	EFO	2	EFO	measurement	longevity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004300	"The  length of time of an organism's life." []	1142500	\N	\N	EFO	3	EFO	information entity	longevity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004300	"The  length of time of an organism's life." []	2025321	\N	\N	EFO	4	EFO	experimental factor	longevity
EFO:0004301	\N	\N	"The internal resistance of theBLOODto shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such asSICKLE CELL ANEMIAand POLYCYTHEMIA." []	EFO:0004301	"The internal resistance of theBLOODto shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such asSICKLE CELL ANEMIAand POLYCYTHEMIA." []	66282	\N	\N	EFO	0	EFO	blood viscosity	blood viscosity
EFO:0004503	EFO:0004301	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004301	"The internal resistance of theBLOODto shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such asSICKLE CELL ANEMIAand POLYCYTHEMIA." []	207521	\N	\N	EFO	1	EFO	hematological measurement	blood viscosity
EFO:0004872	EFO:0004301	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004301	"The internal resistance of theBLOODto shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such asSICKLE CELL ANEMIAand POLYCYTHEMIA." []	207522	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	blood viscosity
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004301	"The internal resistance of theBLOODto shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such asSICKLE CELL ANEMIAand POLYCYTHEMIA." []	560657	\N	\N	EFO	2	EFO	measurement	blood viscosity
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004301	"The internal resistance of theBLOODto shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such asSICKLE CELL ANEMIAand POLYCYTHEMIA." []	560658	\N	\N	EFO	2	EFO	measurement	blood viscosity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004301	"The internal resistance of theBLOODto shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such asSICKLE CELL ANEMIAand POLYCYTHEMIA." []	1142501	\N	\N	EFO	3	EFO	information entity	blood viscosity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004301	"The internal resistance of theBLOODto shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such asSICKLE CELL ANEMIAand POLYCYTHEMIA." []	2025322	\N	\N	EFO	4	EFO	experimental factor	blood viscosity
EFO:0004302	\N	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004302	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	66283	\N	\N	EFO	0	EFO	anthropometric measurement	anthropometric measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004302	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	207523	\N	\N	EFO	1	EFO	measurement	anthropometric measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004302	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	560659	\N	\N	EFO	2	EFO	information entity	anthropometric measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004302	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	1142502	\N	\N	EFO	3	EFO	experimental factor	anthropometric measurement
EFO:0004303	\N	\N	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	EFO:0004303	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	66284	\N	\N	EFO	0	EFO	vital signs	vital signs
EFO:0001444	EFO:0004303	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004303	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	207524	\N	\N	EFO	1	EFO	measurement	vital signs
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004303	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	560660	\N	\N	EFO	2	EFO	information entity	vital signs
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004303	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	1142503	\N	\N	EFO	3	EFO	experimental factor	vital signs
EFO:0004304	\N	\N	"Measurement of rate of settling of erythrocytes in anticoagulated blood." []	EFO:0004304	"Measurement of rate of settling of erythrocytes in anticoagulated blood." []	66285	\N	\N	EFO	0	EFO	blood sedimentation	blood sedimentation
EFO:0004503	EFO:0004304	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004304	"Measurement of rate of settling of erythrocytes in anticoagulated blood." []	207525	\N	\N	EFO	1	EFO	hematological measurement	blood sedimentation
EFO:0004872	EFO:0004304	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004304	"Measurement of rate of settling of erythrocytes in anticoagulated blood." []	207526	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	blood sedimentation
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004304	"Measurement of rate of settling of erythrocytes in anticoagulated blood." []	560661	\N	\N	EFO	2	EFO	measurement	blood sedimentation
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004304	"Measurement of rate of settling of erythrocytes in anticoagulated blood." []	560662	\N	\N	EFO	2	EFO	measurement	blood sedimentation
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004304	"Measurement of rate of settling of erythrocytes in anticoagulated blood." []	1142504	\N	\N	EFO	3	EFO	information entity	blood sedimentation
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004304	"Measurement of rate of settling of erythrocytes in anticoagulated blood." []	2025323	\N	\N	EFO	4	EFO	experimental factor	blood sedimentation
EFO:0004305	\N	\N	"The number of red blood cellsper unit volume in a sample of venous blood." []	EFO:0004305	"The number of red blood cellsper unit volume in a sample of venous blood." []	66286	\N	\N	EFO	0	EFO	erythrocyte count	erythrocyte count
EFO:0004306	EFO:0004305	\N	"ERYTHROCYTEsize andHEMOGLOBINcontent or concentration, usually derived fromERYTHROCYTE COUNT;BLOODhemoglobin concentration; andHEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC)." []	EFO:0004305	"The number of red blood cellsper unit volume in a sample of venous blood." []	207527	\N	\N	EFO	1	EFO	erythrocyte indices	erythrocyte count
EFO:0005047	EFO:0004306	\N	"Is a quantification of some aspect of erythrocyte function, quanity, or composition." []	EFO:0004305	"The number of red blood cellsper unit volume in a sample of venous blood." []	560663	\N	\N	EFO	2	EFO	erythrocyte measurement	erythrocyte count
EFO:0004503	EFO:0005047	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004305	"The number of red blood cellsper unit volume in a sample of venous blood." []	1142505	\N	\N	EFO	3	EFO	hematological measurement	erythrocyte count
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004305	"The number of red blood cellsper unit volume in a sample of venous blood." []	2025324	\N	\N	EFO	4	EFO	measurement	erythrocyte count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004305	"The number of red blood cellsper unit volume in a sample of venous blood." []	3178069	\N	\N	EFO	5	EFO	information entity	erythrocyte count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004305	"The number of red blood cellsper unit volume in a sample of venous blood." []	4388066	\N	\N	EFO	6	EFO	experimental factor	erythrocyte count
EFO:0004306	\N	\N	"ERYTHROCYTEsize andHEMOGLOBINcontent or concentration, usually derived fromERYTHROCYTE COUNT;BLOODhemoglobin concentration; andHEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC)." []	EFO:0004306	"ERYTHROCYTEsize andHEMOGLOBINcontent or concentration, usually derived fromERYTHROCYTE COUNT;BLOODhemoglobin concentration; andHEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC)." []	66287	\N	\N	EFO	0	EFO	erythrocyte indices	erythrocyte indices
EFO:0005047	EFO:0004306	\N	"Is a quantification of some aspect of erythrocyte function, quanity, or composition." []	EFO:0004306	"ERYTHROCYTEsize andHEMOGLOBINcontent or concentration, usually derived fromERYTHROCYTE COUNT;BLOODhemoglobin concentration; andHEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC)." []	207528	\N	\N	EFO	1	EFO	erythrocyte measurement	erythrocyte indices
EFO:0004503	EFO:0005047	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004306	"ERYTHROCYTEsize andHEMOGLOBINcontent or concentration, usually derived fromERYTHROCYTE COUNT;BLOODhemoglobin concentration; andHEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC)." []	560664	\N	\N	EFO	2	EFO	hematological measurement	erythrocyte indices
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004306	"ERYTHROCYTEsize andHEMOGLOBINcontent or concentration, usually derived fromERYTHROCYTE COUNT;BLOODhemoglobin concentration; andHEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC)." []	1142506	\N	\N	EFO	3	EFO	measurement	erythrocyte indices
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004306	"ERYTHROCYTEsize andHEMOGLOBINcontent or concentration, usually derived fromERYTHROCYTE COUNT;BLOODhemoglobin concentration; andHEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC)." []	2025325	\N	\N	EFO	4	EFO	information entity	erythrocyte indices
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004306	"ERYTHROCYTEsize andHEMOGLOBINcontent or concentration, usually derived fromERYTHROCYTE COUNT;BLOODhemoglobin concentration; andHEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC)." []	3178070	\N	\N	EFO	5	EFO	experimental factor	erythrocyte indices
EFO:0004307	\N	\N	"A test to determine the ability of an individual to maintain homeostatisofblood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg)." []	EFO:0004307	"A test to determine the ability of an individual to maintain homeostatisofblood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg)." []	66288	\N	\N	EFO	0	EFO	glucose tolerance test	glucose tolerance test
EFO:0004468	EFO:0004307	\N	"Is any quantification of glucose." []	EFO:0004307	"A test to determine the ability of an individual to maintain homeostatisofblood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg)." []	207529	\N	\N	EFO	1	EFO	glucose measurement	glucose tolerance test
EFO:0006842	EFO:0004468	\N	"" []	EFO:0004307	"A test to determine the ability of an individual to maintain homeostatisofblood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg)." []	560665	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	glucose tolerance test
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004307	"A test to determine the ability of an individual to maintain homeostatisofblood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg)." []	1142507	\N	\N	EFO	3	EFO	measurement	glucose tolerance test
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004307	"A test to determine the ability of an individual to maintain homeostatisofblood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg)." []	2025326	\N	\N	EFO	4	EFO	information entity	glucose tolerance test
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004307	"A test to determine the ability of an individual to maintain homeostatisofblood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg)." []	3178071	\N	\N	EFO	5	EFO	experimental factor	glucose tolerance test
EFO:0004308	\N	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0004308	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	66289	\N	\N	EFO	0	EFO	leukocyte count	leukocyte count
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004308	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	207530	\N	\N	EFO	1	EFO	hematological measurement	leukocyte count
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004308	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	560666	\N	\N	EFO	2	EFO	measurement	leukocyte count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004308	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	1142508	\N	\N	EFO	3	EFO	information entity	leukocyte count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004308	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	2025327	\N	\N	EFO	4	EFO	experimental factor	leukocyte count
EFO:0004309	\N	\N	"The number of PLATELETS per unit volume in a sample of venous BLOOD." []	EFO:0004309	"The number of PLATELETS per unit volume in a sample of venous BLOOD." []	66290	\N	\N	EFO	0	EFO	platelet count	platelet count
EFO:0005036	EFO:0004309	\N	"A measurement quantifying some platelet" []	EFO:0004309	"The number of PLATELETS per unit volume in a sample of venous BLOOD." []	207531	\N	\N	EFO	1	EFO	platelet measurement	platelet count
EFO:0004503	EFO:0005036	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004309	"The number of PLATELETS per unit volume in a sample of venous BLOOD." []	560667	\N	\N	EFO	2	EFO	hematological measurement	platelet count
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004309	"The number of PLATELETS per unit volume in a sample of venous BLOOD." []	1142509	\N	\N	EFO	3	EFO	measurement	platelet count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004309	"The number of PLATELETS per unit volume in a sample of venous BLOOD." []	2025328	\N	\N	EFO	4	EFO	information entity	platelet count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004309	"The number of PLATELETS per unit volume in a sample of venous BLOOD." []	3178072	\N	\N	EFO	5	EFO	experimental factor	platelet count
EFO:0004310	\N	\N	"The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy." []	EFO:0004310	"The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy." []	66291	\N	\N	EFO	0	EFO	partial thromboplastin time	partial thromboplastin time
EFO:0004503	EFO:0004310	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004310	"The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy." []	207532	\N	\N	EFO	1	EFO	hematological measurement	partial thromboplastin time
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004310	"The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy." []	560668	\N	\N	EFO	2	EFO	measurement	partial thromboplastin time
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004310	"The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy." []	1142510	\N	\N	EFO	3	EFO	information entity	partial thromboplastin time
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004310	"The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy." []	2025329	\N	\N	EFO	4	EFO	experimental factor	partial thromboplastin time
EFO:0004311	\N	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0004311	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	66292	\N	\N	EFO	0	EFO	heart function measurement	heart function measurement
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004311	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	207533	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	heart function measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004311	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	560669	\N	\N	EFO	2	EFO	cardiovascular measurement	heart function measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004311	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	1142511	\N	\N	EFO	3	EFO	measurement	heart function measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004311	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	2025330	\N	\N	EFO	4	EFO	information entity	heart function measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004311	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	3178073	\N	\N	EFO	5	EFO	experimental factor	heart function measurement
EFO:0004312	\N	\N	"The volume of air that is exhaled by a maximal expiration following a maximal inspiration." []	EFO:0004312	"The volume of air that is exhaled by a maximal expiration following a maximal inspiration." []	66293	\N	\N	EFO	0	EFO	vital capacity	vital capacity
EFO:0003892	EFO:0004312	\N	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	EFO:0004312	"The volume of air that is exhaled by a maximal expiration following a maximal inspiration." []	207534	\N	\N	EFO	1	EFO	pulmonary function measurement	vital capacity
EFO:0001444	EFO:0003892	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004312	"The volume of air that is exhaled by a maximal expiration following a maximal inspiration." []	560670	\N	\N	EFO	2	EFO	measurement	vital capacity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004312	"The volume of air that is exhaled by a maximal expiration following a maximal inspiration." []	1142512	\N	\N	EFO	3	EFO	information entity	vital capacity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004312	"The volume of air that is exhaled by a maximal expiration following a maximal inspiration." []	2025331	\N	\N	EFO	4	EFO	experimental factor	vital capacity
EFO:0004313	\N	\N	"Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%." []	EFO:0004313	"Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%." []	66294	\N	\N	EFO	0	EFO	maximal midexpiratory flow rate	maximal midexpiratory flow rate
EFO:0003892	EFO:0004313	\N	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	EFO:0004313	"Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%." []	207535	\N	\N	EFO	1	EFO	pulmonary function measurement	maximal midexpiratory flow rate
EFO:0006841	EFO:0004313	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0004313	"Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%." []	207536	\N	\N	EFO	1	EFO	respiratory disease biomarker	maximal midexpiratory flow rate
EFO:0001444	EFO:0003892	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004313	"Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%." []	560671	\N	\N	EFO	2	EFO	measurement	maximal midexpiratory flow rate
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004313	"Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%." []	560672	\N	\N	EFO	2	EFO	measurement	maximal midexpiratory flow rate
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004313	"Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%." []	1142513	\N	\N	EFO	3	EFO	information entity	maximal midexpiratory flow rate
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004313	"Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%." []	2025332	\N	\N	EFO	4	EFO	experimental factor	maximal midexpiratory flow rate
EFO:0004314	\N	\N	"Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity." []	EFO:0004314	"Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity." []	66295	\N	\N	EFO	0	EFO	forced expiratory volume	forced expiratory volume
EFO:0003892	EFO:0004314	\N	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	EFO:0004314	"Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity." []	207537	\N	\N	EFO	1	EFO	pulmonary function measurement	forced expiratory volume
EFO:0006841	EFO:0004314	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0004314	"Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity." []	207538	\N	\N	EFO	1	EFO	respiratory disease biomarker	forced expiratory volume
EFO:0001444	EFO:0003892	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004314	"Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity." []	560673	\N	\N	EFO	2	EFO	measurement	forced expiratory volume
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004314	"Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity." []	560674	\N	\N	EFO	2	EFO	measurement	forced expiratory volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004314	"Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity." []	1142514	\N	\N	EFO	3	EFO	information entity	forced expiratory volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004314	"Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity." []	2025333	\N	\N	EFO	4	EFO	experimental factor	forced expiratory volume
EFO:0004315	\N	\N	"Behaviors associated with the ingesting of water and other liquids; includes rhythmic patterns of drinking (time intervals - onset and duration), frequency and satiety." []	EFO:0004315	"Behaviors associated with the ingesting of water and other liquids; includes rhythmic patterns of drinking (time intervals - onset and duration), frequency and satiety." []	66296	\N	\N	EFO	0	EFO	drinking behavior	drinking behavior
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0004315	"Behaviors associated with the ingesting of water and other liquids; includes rhythmic patterns of drinking (time intervals - onset and duration), frequency and satiety." []	194660	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	drinking behavior
EFO:0004316	\N	\N	"The tendency to explore or investigate a novel environment. It is considered a motivation not clearly distinguishable from curiosity." []	EFO:0004316	"The tendency to explore or investigate a novel environment. It is considered a motivation not clearly distinguishable from curiosity." []	66297	\N	\N	EFO	0	EFO	exploratory behavior	exploratory behavior
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0004316	"The tendency to explore or investigate a novel environment. It is considered a motivation not clearly distinguishable from curiosity." []	194661	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	exploratory behavior
EFO:0004317	\N	\N	"A state in which attention is largely directed outward from the self." []	EFO:0004317	"A state in which attention is largely directed outward from the self." []	66298	\N	\N	EFO	0	EFO	extraversion	extraversion
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0004317	"A state in which attention is largely directed outward from the self." []	194662	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	extraversion
EFO:0004318	\N	\N	"Inhaling and exhaling the smoke of tobacco or something similar to tobacco." []	EFO:0004318	"Inhaling and exhaling the smoke of tobacco or something similar to tobacco." []	66299	\N	\N	EFO	0	EFO	smoking behavior	smoking behavior
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0004318	"Inhaling and exhaling the smoke of tobacco or something similar to tobacco." []	194663	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	smoking behavior
EFO:0004319	\N	\N	"Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke." []	EFO:0004319	"Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke." []	66300	\N	\N	EFO	0	EFO	smoking cessation	smoking cessation
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0004319	"Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke." []	194664	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	smoking cessation
EFO:0004320	\N	\N	"A risk factor for suicide attempts and completions, it is the most common of all suicidal behavior, but only a minority of ideators engage in overt self-harm." []	EFO:0004320	"A risk factor for suicide attempts and completions, it is the most common of all suicidal behavior, but only a minority of ideators engage in overt self-harm." []	66301	\N	\N	EFO	0	EFO	suicidal ideation	suicidal ideation
EFO:0007623	EFO:0004320	\N	"Any behaviour related to suicide, including suicide ideation and self-harm" []	EFO:0004320	"A risk factor for suicide attempts and completions, it is the most common of all suicidal behavior, but only a minority of ideators engage in overt self-harm." []	207539	\N	\N	EFO	1	EFO	suicide behaviour	suicidal ideation
EFO:0004321	\N	\N	"The unsuccessful attempt to kill oneself." []	EFO:0004321	"The unsuccessful attempt to kill oneself." []	66302	\N	\N	EFO	0	EFO	attempted suicide	attempted suicide
EFO:0007623	EFO:0004321	\N	"Any behaviour related to suicide, including suicide ideation and self-harm" []	EFO:0004321	"The unsuccessful attempt to kill oneself." []	207540	\N	\N	EFO	1	EFO	suicide behaviour	attempted suicide
EFO:0004323	\N	\N	"Conceptual functions or thinking in all its forms." []	EFO:0004323	"Conceptual functions or thinking in all its forms." []	66303	\N	\N	EFO	0	EFO	mental process	mental process
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	EFO:0004323	"Conceptual functions or thinking in all its forms." []	194665	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	mental process
EFO:0004324	\N	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004324	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	66304	\N	\N	EFO	0	EFO	body weights and measures	body weights and measures
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004324	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	207541	\N	\N	EFO	1	EFO	anthropometric measurement	body weights and measures
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004324	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	560675	\N	\N	EFO	2	EFO	measurement	body weights and measures
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004324	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	1142515	\N	\N	EFO	3	EFO	information entity	body weights and measures
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004324	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	2025334	\N	\N	EFO	4	EFO	experimental factor	body weights and measures
EFO:0004325	\N	\N	"PRESSUREof theBLOODon theARTERIESand otherBLOOD VESSELS." []	EFO:0004325	"PRESSUREof theBLOODon theARTERIESand otherBLOOD VESSELS." []	66305	\N	\N	EFO	0	EFO	blood pressure	blood pressure
EFO:0004303	EFO:0004325	\N	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	EFO:0004325	"PRESSUREof theBLOODon theARTERIESand otherBLOOD VESSELS." []	207542	\N	\N	EFO	1	EFO	vital signs	blood pressure
EFO:0001444	EFO:0004303	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004325	"PRESSUREof theBLOODon theARTERIESand otherBLOOD VESSELS." []	560676	\N	\N	EFO	2	EFO	measurement	blood pressure
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004325	"PRESSUREof theBLOODon theARTERIESand otherBLOOD VESSELS." []	1142516	\N	\N	EFO	3	EFO	information entity	blood pressure
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004325	"PRESSUREof theBLOODon theARTERIESand otherBLOOD VESSELS." []	2025335	\N	\N	EFO	4	EFO	experimental factor	blood pressure
EFO:0004326	\N	\N	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	EFO:0004326	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	66306	\N	\N	EFO	0	EFO	heart rate	heart rate
EFO:0004303	EFO:0004326	\N	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	EFO:0004326	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	207543	\N	\N	EFO	1	EFO	vital signs	heart rate
EFO:0004311	EFO:0004326	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0004326	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	207544	\N	\N	EFO	1	EFO	heart function measurement	heart rate
EFO:0001444	EFO:0004303	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004326	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	560677	\N	\N	EFO	2	EFO	measurement	heart rate
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004326	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	560678	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	heart rate
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004326	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	3178074	\N	\N	EFO	5	EFO	information entity	heart rate
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004326	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	1142518	\N	\N	EFO	3	EFO	cardiovascular measurement	heart rate
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004326	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	4066711	\N	\N	EFO	6	EFO	experimental factor	heart rate
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004326	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	2025337	\N	\N	EFO	4	EFO	measurement	heart rate
EFO:0004327	\N	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0004327	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	66307	\N	\N	EFO	0	EFO	electrocardiography	electrocardiography
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0004327	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	207545	\N	\N	EFO	1	EFO	heart function measurement	electrocardiography
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004327	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	560679	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	electrocardiography
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004327	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	1142519	\N	\N	EFO	3	EFO	cardiovascular measurement	electrocardiography
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004327	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	2025338	\N	\N	EFO	4	EFO	measurement	electrocardiography
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004327	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	3178075	\N	\N	EFO	5	EFO	information entity	electrocardiography
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004327	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	4388067	\N	\N	EFO	6	EFO	experimental factor	electrocardiography
EFO:0004328	\N	\N	"Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate." []	EFO:0004328	"Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate." []	66308	\N	\N	EFO	0	EFO	exercise test	exercise test
EFO:0004311	EFO:0004328	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0004328	"Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate." []	207546	\N	\N	EFO	1	EFO	heart function measurement	exercise test
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004328	"Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate." []	560680	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	exercise test
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004328	"Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate." []	1142520	\N	\N	EFO	3	EFO	cardiovascular measurement	exercise test
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004328	"Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate." []	2025339	\N	\N	EFO	4	EFO	measurement	exercise test
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004328	"Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate." []	3178076	\N	\N	EFO	5	EFO	information entity	exercise test
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004328	"Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate." []	4388068	\N	\N	EFO	6	EFO	experimental factor	exercise test
EFO:0004329	\N	\N	"Behaviors associated with the ingesting of alcoholic beverages, including social drinking." []	EFO:0004329	"Behaviors associated with the ingesting of alcoholic beverages, including social drinking." []	66309	\N	\N	EFO	0	EFO	alcohol drinking	alcohol drinking
EFO:0004315	EFO:0004329	\N	"Behaviors associated with the ingesting of water and other liquids; includes rhythmic patterns of drinking (time intervals - onset and duration), frequency and satiety." []	EFO:0004329	"Behaviors associated with the ingesting of alcoholic beverages, including social drinking." []	207547	\N	\N	EFO	1	EFO	drinking behavior	alcohol drinking
EFO:0004330	\N	\N	"Behaviors associated with the ingesting of coffee" []	EFO:0004330	"Behaviors associated with the ingesting of coffee" []	66310	\N	\N	EFO	0	EFO	coffee consumption	coffee consumption
EFO:0004315	EFO:0004330	\N	"Behaviors associated with the ingesting of water and other liquids; includes rhythmic patterns of drinking (time intervals - onset and duration), frequency and satiety." []	EFO:0004330	"Behaviors associated with the ingesting of coffee" []	207548	\N	\N	EFO	1	EFO	drinking behavior	coffee consumption
EFO:0004333	\N	\N	"Type of declarative memory, consisting of personal memory in contrast to general knowledge." []	EFO:0004333	"Type of declarative memory, consisting of personal memory in contrast to general knowledge." []	66311	\N	\N	EFO	0	EFO	episodic memory	episodic memory
EFO:0004323	EFO:0004333	\N	"Conceptual functions or thinking in all its forms." []	EFO:0004333	"Type of declarative memory, consisting of personal memory in contrast to general knowledge." []	207549	\N	\N	EFO	1	EFO	mental process	episodic memory
EFO:0004334	\N	\N	"Knowing or understanding without conscious use of reasoning. (Thesaurus of ERIC Descriptors, 1994)" []	EFO:0004334	"Knowing or understanding without conscious use of reasoning. (Thesaurus of ERIC Descriptors, 1994)" []	66312	\N	\N	EFO	0	EFO	intuition	intuition
EFO:0003925	EFO:0004334	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0004334	"Knowing or understanding without conscious use of reasoning. (Thesaurus of ERIC Descriptors, 1994)" []	207550	\N	\N	EFO	1	EFO	cognition	intuition
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0004334	"Knowing or understanding without conscious use of reasoning. (Thesaurus of ERIC Descriptors, 1994)" []	560681	\N	\N	EFO	2	EFO	mental process	intuition
EFO:0004335	\N	\N	"Remembrance of information for a few seconds to hours." []	EFO:0004335	"Remembrance of information for a few seconds to hours." []	66313	\N	\N	EFO	0	EFO	short-term memory	short-term memory
EFO:0004323	EFO:0004335	\N	"Conceptual functions or thinking in all its forms." []	EFO:0004335	"Remembrance of information for a few seconds to hours." []	207551	\N	\N	EFO	1	EFO	mental process	short-term memory
EFO:0004336	\N	\N	"The process whereby an utterance is decoded into a representation in terms of linguistic units (sequences of phonetic segments which combine to form lexical and grammatical morphemes)." []	EFO:0004336	"The process whereby an utterance is decoded into a representation in terms of linguistic units (sequences of phonetic segments which combine to form lexical and grammatical morphemes)." []	66314	\N	\N	EFO	0	EFO	speech perception	speech perception
EFO:0003925	EFO:0004336	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0004336	"The process whereby an utterance is decoded into a representation in terms of linguistic units (sequences of phonetic segments which combine to form lexical and grammatical morphemes)." []	207552	\N	\N	EFO	1	EFO	cognition	speech perception
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0004336	"The process whereby an utterance is decoded into a representation in terms of linguistic units (sequences of phonetic segments which combine to form lexical and grammatical morphemes)." []	560682	\N	\N	EFO	2	EFO	mental process	speech perception
EFO:0004337	\N	\N	"The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions." []	EFO:0004337	"The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions." []	66315	\N	\N	EFO	0	EFO	intelligence	intelligence
EFO:0003925	EFO:0004337	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0004337	"The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions." []	207553	\N	\N	EFO	1	EFO	cognition	intelligence
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0004337	"The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions." []	560683	\N	\N	EFO	2	EFO	mental process	intelligence
EFO:0004338	\N	\N	"The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." []	EFO:0004338	"The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." []	66316	\N	\N	EFO	0	EFO	body weight	body weight
EFO:0004324	EFO:0004338	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004338	"The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." []	207554	\N	\N	EFO	1	EFO	body weights and measures	body weight
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004338	"The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." []	560684	\N	\N	EFO	2	EFO	anthropometric measurement	body weight
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004338	"The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." []	1142521	\N	\N	EFO	3	EFO	measurement	body weight
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004338	"The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." []	2025340	\N	\N	EFO	4	EFO	information entity	body weight
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004338	"The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." []	3178077	\N	\N	EFO	5	EFO	experimental factor	body weight
EFO:0004339	\N	\N	"The distance from the sole to the crown of the head with body standing on a flat surface and fully extended." []	EFO:0004339	"The distance from the sole to the crown of the head with body standing on a flat surface and fully extended." []	66317	\N	\N	EFO	0	EFO	body height	body height
EFO:0004324	EFO:0004339	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004339	"The distance from the sole to the crown of the head with body standing on a flat surface and fully extended." []	207555	\N	\N	EFO	1	EFO	body weights and measures	body height
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004339	"The distance from the sole to the crown of the head with body standing on a flat surface and fully extended." []	560685	\N	\N	EFO	2	EFO	anthropometric measurement	body height
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004339	"The distance from the sole to the crown of the head with body standing on a flat surface and fully extended." []	1142522	\N	\N	EFO	3	EFO	measurement	body height
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004339	"The distance from the sole to the crown of the head with body standing on a flat surface and fully extended." []	2025341	\N	\N	EFO	4	EFO	information entity	body height
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004339	"The distance from the sole to the crown of the head with body standing on a flat surface and fully extended." []	3178078	\N	\N	EFO	5	EFO	experimental factor	body height
EFO:0004340	\N	\N	"An indicator of body density as determined by the relationship of BODY WEIGHTtoBODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" []	EFO:0004340	"An indicator of body density as determined by the relationship of BODY WEIGHTtoBODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" []	66318	\N	\N	EFO	0	EFO	body mass index	body mass index
EFO:0004324	EFO:0004340	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004340	"An indicator of body density as determined by the relationship of BODY WEIGHTtoBODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" []	207556	\N	\N	EFO	1	EFO	body weights and measures	body mass index
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004340	"An indicator of body density as determined by the relationship of BODY WEIGHTtoBODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" []	560686	\N	\N	EFO	2	EFO	anthropometric measurement	body mass index
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004340	"An indicator of body density as determined by the relationship of BODY WEIGHTtoBODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" []	1142523	\N	\N	EFO	3	EFO	measurement	body mass index
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004340	"An indicator of body density as determined by the relationship of BODY WEIGHTtoBODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" []	2025342	\N	\N	EFO	4	EFO	information entity	body mass index
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004340	"An indicator of body density as determined by the relationship of BODY WEIGHTtoBODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" []	3178079	\N	\N	EFO	5	EFO	experimental factor	body mass index
EFO:0004341	\N	\N	"Deposits ofADIPOSE TISSUEthroughout the body. The pattern of fat deposits in the body regions is an indicator of health status. ExcessABDOMINAL FATincreases health risks more than excess fat around the hips or thighs, therefore,WAIST-HIP RATIOis often used to determine health risks." []	EFO:0004341	"Deposits ofADIPOSE TISSUEthroughout the body. The pattern of fat deposits in the body regions is an indicator of health status. ExcessABDOMINAL FATincreases health risks more than excess fat around the hips or thighs, therefore,WAIST-HIP RATIOis often used to determine health risks." []	66319	\N	\N	EFO	0	EFO	body fat distribution	body fat distribution
EFO:0005106	EFO:0004341	\N	"measurement of the percentages of fat, bone and muscle in human bodies" []	EFO:0004341	"Deposits ofADIPOSE TISSUEthroughout the body. The pattern of fat deposits in the body regions is an indicator of health status. ExcessABDOMINAL FATincreases health risks more than excess fat around the hips or thighs, therefore,WAIST-HIP RATIOis often used to determine health risks." []	207557	\N	\N	EFO	1	EFO	body composition measurement	body fat distribution
EFO:0004324	EFO:0005106	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004341	"Deposits ofADIPOSE TISSUEthroughout the body. The pattern of fat deposits in the body regions is an indicator of health status. ExcessABDOMINAL FATincreases health risks more than excess fat around the hips or thighs, therefore,WAIST-HIP RATIOis often used to determine health risks." []	560687	\N	\N	EFO	2	EFO	body weights and measures	body fat distribution
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004341	"Deposits ofADIPOSE TISSUEthroughout the body. The pattern of fat deposits in the body regions is an indicator of health status. ExcessABDOMINAL FATincreases health risks more than excess fat around the hips or thighs, therefore,WAIST-HIP RATIOis often used to determine health risks." []	1142524	\N	\N	EFO	3	EFO	anthropometric measurement	body fat distribution
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004341	"Deposits ofADIPOSE TISSUEthroughout the body. The pattern of fat deposits in the body regions is an indicator of health status. ExcessABDOMINAL FATincreases health risks more than excess fat around the hips or thighs, therefore,WAIST-HIP RATIOis often used to determine health risks." []	2025343	\N	\N	EFO	4	EFO	measurement	body fat distribution
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004341	"Deposits ofADIPOSE TISSUEthroughout the body. The pattern of fat deposits in the body regions is an indicator of health status. ExcessABDOMINAL FATincreases health risks more than excess fat around the hips or thighs, therefore,WAIST-HIP RATIOis often used to determine health risks." []	3178080	\N	\N	EFO	5	EFO	information entity	body fat distribution
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004341	"Deposits ofADIPOSE TISSUEthroughout the body. The pattern of fat deposits in the body regions is an indicator of health status. ExcessABDOMINAL FATincreases health risks more than excess fat around the hips or thighs, therefore,WAIST-HIP RATIOis often used to determine health risks." []	4388069	\N	\N	EFO	6	EFO	experimental factor	body fat distribution
EFO:0004342	\N	\N	"The measurement around the body at the level of theABDOMENand just above the hip bone. The measurement is usually taken immediately after exhalation." []	EFO:0004342	"The measurement around the body at the level of theABDOMENand just above the hip bone. The measurement is usually taken immediately after exhalation." []	66320	\N	\N	EFO	0	EFO	waist circumference	waist circumference
EFO:0004324	EFO:0004342	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004342	"The measurement around the body at the level of theABDOMENand just above the hip bone. The measurement is usually taken immediately after exhalation." []	207558	\N	\N	EFO	1	EFO	body weights and measures	waist circumference
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004342	"The measurement around the body at the level of theABDOMENand just above the hip bone. The measurement is usually taken immediately after exhalation." []	560688	\N	\N	EFO	2	EFO	anthropometric measurement	waist circumference
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004342	"The measurement around the body at the level of theABDOMENand just above the hip bone. The measurement is usually taken immediately after exhalation." []	1142525	\N	\N	EFO	3	EFO	measurement	waist circumference
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004342	"The measurement around the body at the level of theABDOMENand just above the hip bone. The measurement is usually taken immediately after exhalation." []	2025344	\N	\N	EFO	4	EFO	information entity	waist circumference
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004342	"The measurement around the body at the level of theABDOMENand just above the hip bone. The measurement is usually taken immediately after exhalation." []	3178081	\N	\N	EFO	5	EFO	experimental factor	waist circumference
EFO:0004343	\N	\N	"The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered \\"at risk\\" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)" []	EFO:0004343	"The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered \\"at risk\\" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)" []	66321	\N	\N	EFO	0	EFO	waist-hip ratio	waist-hip ratio
EFO:0007861	EFO:0004343	\N	"quantification of the ratio between two body measures, eg waist-hip ratio" []	EFO:0004343	"The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered \\"at risk\\" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)" []	207559	\N	\N	EFO	1	EFO	body ratio measurement	waist-hip ratio
EFO:0004324	EFO:0007861	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004343	"The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered \\"at risk\\" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)" []	560689	\N	\N	EFO	2	EFO	body weights and measures	waist-hip ratio
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004343	"The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered \\"at risk\\" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)" []	1142526	\N	\N	EFO	3	EFO	anthropometric measurement	waist-hip ratio
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004343	"The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered \\"at risk\\" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)" []	2025345	\N	\N	EFO	4	EFO	measurement	waist-hip ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004343	"The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered \\"at risk\\" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)" []	3178082	\N	\N	EFO	5	EFO	information entity	waist-hip ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004343	"The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered \\"at risk\\" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)" []	4388070	\N	\N	EFO	6	EFO	experimental factor	waist-hip ratio
EFO:0004344	\N	\N	"The mass or quantity of heaviness of an individual atBIRTH. It is expressed by units of pounds or kilograms." []	EFO:0004344	"The mass or quantity of heaviness of an individual atBIRTH. It is expressed by units of pounds or kilograms." []	66322	\N	\N	EFO	0	EFO	birth weight	birth weight
EFO:0004338	EFO:0004344	\N	"The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." []	EFO:0004344	"The mass or quantity of heaviness of an individual atBIRTH. It is expressed by units of pounds or kilograms." []	207560	\N	\N	EFO	1	EFO	body weight	birth weight
EFO:0004324	EFO:0004338	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004344	"The mass or quantity of heaviness of an individual atBIRTH. It is expressed by units of pounds or kilograms." []	560690	\N	\N	EFO	2	EFO	body weights and measures	birth weight
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004344	"The mass or quantity of heaviness of an individual atBIRTH. It is expressed by units of pounds or kilograms." []	1142527	\N	\N	EFO	3	EFO	anthropometric measurement	birth weight
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004344	"The mass or quantity of heaviness of an individual atBIRTH. It is expressed by units of pounds or kilograms." []	2025346	\N	\N	EFO	4	EFO	measurement	birth weight
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004344	"The mass or quantity of heaviness of an individual atBIRTH. It is expressed by units of pounds or kilograms." []	3178083	\N	\N	EFO	5	EFO	information entity	birth weight
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004344	"The mass or quantity of heaviness of an individual atBIRTH. It is expressed by units of pounds or kilograms." []	4388071	\N	\N	EFO	6	EFO	experimental factor	birth weight
EFO:0004345	\N	\N	"The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty." []	EFO:0004345	"The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty." []	66323	\N	\N	EFO	0	EFO	corneal topography	corneal topography
EFO:0004731	EFO:0004345	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0004345	"The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty." []	207561	\N	\N	EFO	1	EFO	eye measurement	corneal topography
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004345	"The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty." []	560691	\N	\N	EFO	2	EFO	measurement	corneal topography
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004345	"The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty." []	1142528	\N	\N	EFO	3	EFO	information entity	corneal topography
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004345	"The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty." []	2025347	\N	\N	EFO	4	EFO	experimental factor	corneal topography
EFO:0004346	\N	\N	"Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan" []	EFO:0004346	"Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan" []	66324	\N	\N	EFO	0	EFO	neuroimaging measurement	neuroimaging measurement
EFO:0001444	EFO:0004346	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004346	"Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan" []	207562	\N	\N	EFO	1	EFO	measurement	neuroimaging measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004346	"Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan" []	560692	\N	\N	EFO	2	EFO	information entity	neuroimaging measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004346	"Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan" []	1142529	\N	\N	EFO	3	EFO	experimental factor	neuroimaging measurement
EFO:0004347	\N	\N	"The observable, measurable, and often pathological activity of an organism that portrays its inability to overcome a habit resulting in an insatiable craving for a substance or for performing certain acts. The addictive behavior includes the emotional and physical overdependence on the object of habit in increasing amount or frequency." []	EFO:0004347	"The observable, measurable, and often pathological activity of an organism that portrays its inability to overcome a habit resulting in an insatiable craving for a substance or for performing certain acts. The addictive behavior includes the emotional and physical overdependence on the object of habit in increasing amount or frequency." []	66325	\N	\N	EFO	0	EFO	addictive behaviour	addictive behaviour
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0004347	"The observable, measurable, and often pathological activity of an organism that portrays its inability to overcome a habit resulting in an insatiable craving for a substance or for performing certain acts. The addictive behavior includes the emotional and physical overdependence on the object of habit in increasing amount or frequency." []	194666	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	addictive behaviour
EFO:0004348	\N	\N	"The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value." []	EFO:0004348	"The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value." []	66326	\N	\N	EFO	0	EFO	hematocrit	hematocrit
EFO:0004503	EFO:0004348	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004348	"The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value." []	207563	\N	\N	EFO	1	EFO	hematological measurement	hematocrit
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004348	"The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value." []	560693	\N	\N	EFO	2	EFO	measurement	hematocrit
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004348	"The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value." []	1142530	\N	\N	EFO	3	EFO	information entity	hematocrit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004348	"The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value." []	2025348	\N	\N	EFO	4	EFO	experimental factor	hematocrit
EFO:0004350	\N	\N	"Thinking that is coherent and logical, using knowledge to evaluate the truth value of a proposition." []	EFO:0004350	"Thinking that is coherent and logical, using knowledge to evaluate the truth value of a proposition." []	66327	\N	\N	EFO	0	EFO	reasoning	reasoning
EFO:0003925	EFO:0004350	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0004350	"Thinking that is coherent and logical, using knowledge to evaluate the truth value of a proposition." []	207564	\N	\N	EFO	1	EFO	cognition	reasoning
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0004350	"Thinking that is coherent and logical, using knowledge to evaluate the truth value of a proposition." []	560694	\N	\N	EFO	2	EFO	mental process	reasoning
EFO:0004351	\N	\N	"quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest" []	EFO:0004351	"quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest" []	66328	\N	\N	EFO	0	EFO	resting heart rate	resting heart rate
EFO:0004326	EFO:0004351	\N	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	EFO:0004351	"quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest" []	207565	\N	\N	EFO	1	EFO	heart rate	resting heart rate
EFO:0004303	EFO:0004326	\N	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	EFO:0004351	"quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest" []	560695	\N	\N	EFO	2	EFO	vital signs	resting heart rate
EFO:0004311	EFO:0004326	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0004351	"quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest" []	560696	\N	\N	EFO	2	EFO	heart function measurement	resting heart rate
EFO:0001444	EFO:0004303	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004351	"quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest" []	1142531	\N	\N	EFO	3	EFO	measurement	resting heart rate
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004351	"quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest" []	1142532	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	resting heart rate
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004351	"quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest" []	4388072	\N	\N	EFO	6	EFO	information entity	resting heart rate
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004351	"quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest" []	2025350	\N	\N	EFO	4	EFO	cardiovascular measurement	resting heart rate
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004351	"quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest" []	5059349	\N	\N	EFO	7	EFO	experimental factor	resting heart rate
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004351	"quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest" []	3178085	\N	\N	EFO	5	EFO	measurement	resting heart rate
EFO:0004352	\N	\N	"Is the quantification of the number of deaths is a population." []	EFO:0004352	"Is the quantification of the number of deaths is a population." []	66329	\N	\N	EFO	0	EFO	mortality	mortality
EFO:0004557	EFO:0004352	\N	"Is the quantification of some measureable quality of a population e.g. birth rate." []	EFO:0004352	"Is the quantification of the number of deaths is a population." []	207566	\N	\N	EFO	1	EFO	population measurement	mortality
EFO:0001444	EFO:0004557	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004352	"Is the quantification of the number of deaths is a population." []	560697	\N	\N	EFO	2	EFO	measurement	mortality
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004352	"Is the quantification of the number of deaths is a population." []	1142533	\N	\N	EFO	3	EFO	information entity	mortality
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004352	"Is the quantification of the number of deaths is a population." []	2025351	\N	\N	EFO	4	EFO	experimental factor	mortality
EFO:0004354	\N	\N	"The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding." []	EFO:0004354	"The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding." []	66330	\N	\N	EFO	0	EFO	circadian rhythm	circadian rhythm
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	EFO:0004354	"The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding." []	194667	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	circadian rhythm
EFO:0004357	\N	\N	"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." []	EFO:0004357	"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." []	66331	\N	\N	EFO	0	EFO	electroencephalogram measurement	electroencephalogram measurement
EFO:0004464	EFO:0004357	\N	"" []	EFO:0004357	"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." []	207567	\N	\N	EFO	1	EFO	brain measurement	electroencephalogram measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004357	"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." []	560698	\N	\N	EFO	2	EFO	measurement	electroencephalogram measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004357	"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." []	1142534	\N	\N	EFO	3	EFO	information entity	electroencephalogram measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004357	"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." []	2025352	\N	\N	EFO	4	EFO	experimental factor	electroencephalogram measurement
EFO:0004358	\N	\N	"The measurement of wave-like oscillations of electric potential between parts of the brain recorded by EEG that are the result of a specific stimulus" []	EFO:0004358	"The measurement of wave-like oscillations of electric potential between parts of the brain recorded by EEG that are the result of a specific stimulus" []	66332	\N	\N	EFO	0	EFO	event-related brain oscillation	event-related brain oscillation
EFO:0004357	EFO:0004358	\N	"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." []	EFO:0004358	"The measurement of wave-like oscillations of electric potential between parts of the brain recorded by EEG that are the result of a specific stimulus" []	207568	\N	\N	EFO	1	EFO	electroencephalogram measurement	event-related brain oscillation
EFO:0004464	EFO:0004357	\N	"" []	EFO:0004358	"The measurement of wave-like oscillations of electric potential between parts of the brain recorded by EEG that are the result of a specific stimulus" []	560699	\N	\N	EFO	2	EFO	brain measurement	event-related brain oscillation
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004358	"The measurement of wave-like oscillations of electric potential between parts of the brain recorded by EEG that are the result of a specific stimulus" []	1142535	\N	\N	EFO	3	EFO	measurement	event-related brain oscillation
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004358	"The measurement of wave-like oscillations of electric potential between parts of the brain recorded by EEG that are the result of a specific stimulus" []	2025353	\N	\N	EFO	4	EFO	information entity	event-related brain oscillation
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004358	"The measurement of wave-like oscillations of electric potential between parts of the brain recorded by EEG that are the result of a specific stimulus" []	3178086	\N	\N	EFO	5	EFO	experimental factor	event-related brain oscillation
EFO:0004359	\N	\N	"A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs." []	EFO:0004359	"A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs." []	66333	\N	\N	EFO	0	EFO	telomere	telomere
BFO:0000040	EFO:0004359	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004359	"A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs." []	207569	\N	\N	EFO	1	EFO	material entity	telomere
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004359	"A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs." []	560700	\N	\N	EFO	2	EFO	experimental factor	telomere
EFO:0004362	\N	\N	"The coordination of a sensory or ideational (cognitive) process and a motor activity." []	EFO:0004362	"The coordination of a sensory or ideational (cognitive) process and a motor activity." []	66334	\N	\N	EFO	0	EFO	psychomotor performance	psychomotor performance
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	EFO:0004362	"The coordination of a sensory or ideational (cognitive) process and a motor activity." []	194668	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	psychomotor performance
EFO:0004363	\N	\N	"time taken to analyse or transform input information in order to produce information as output" []	EFO:0004363	"time taken to analyse or transform input information in order to produce information as output" []	66335	\N	\N	EFO	0	EFO	information processing speed	information processing speed
EFO:0003925	EFO:0004363	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0004363	"time taken to analyse or transform input information in order to produce information as output" []	207570	\N	\N	EFO	1	EFO	cognition	information processing speed
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0004363	"time taken to analyse or transform input information in order to produce information as output" []	560701	\N	\N	EFO	2	EFO	mental process	information processing speed
EFO:0004364	\N	\N	"Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information." []	EFO:0004364	"Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information." []	66336	\N	\N	EFO	0	EFO	neurobehavioral manifestations	neurobehavioral manifestations
HP:0000708	\N	\N	"An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson]	EFO:0004364	"Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information." []	194669	\N	\N	EFO	0	EFO	Behavioral abnormality	neurobehavioral manifestations
EFO:0004365	\N	\N	"The characteristics in behavior that a certain person has." []	EFO:0004365	"The characteristics in behavior that a certain person has." []	66337	\N	\N	EFO	0	EFO	personality trait	personality trait
BFO:0000019	EFO:0004365	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004365	"The characteristics in behavior that a certain person has." []	207571	\N	\N	EFO	1	EFO	quality	personality trait
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004365	"The characteristics in behavior that a certain person has." []	560702	\N	\N	EFO	2	EFO	material property	personality trait
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004365	"The characteristics in behavior that a certain person has." []	1142536	\N	\N	EFO	3	EFO	experimental factor	personality trait
EFO:0004366	\N	\N	"A personality trait rendering the individual acceptable in social or interpersonal relations. It is related to social acceptance, social approval, popularity, social status, leadership qualities, or any quality making him a socially desirable companion." []	EFO:0004366	"A personality trait rendering the individual acceptable in social or interpersonal relations. It is related to social acceptance, social approval, popularity, social status, leadership qualities, or any quality making him a socially desirable companion." []	66338	\N	\N	EFO	0	EFO	social desirability	social desirability
EFO:0004365	EFO:0004366	\N	"The characteristics in behavior that a certain person has." []	EFO:0004366	"A personality trait rendering the individual acceptable in social or interpersonal relations. It is related to social acceptance, social approval, popularity, social status, leadership qualities, or any quality making him a socially desirable companion." []	207572	\N	\N	EFO	1	EFO	personality trait	social desirability
BFO:0000019	EFO:0004365	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004366	"A personality trait rendering the individual acceptable in social or interpersonal relations. It is related to social acceptance, social approval, popularity, social status, leadership qualities, or any quality making him a socially desirable companion." []	560703	\N	\N	EFO	2	EFO	quality	social desirability
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004366	"A personality trait rendering the individual acceptable in social or interpersonal relations. It is related to social acceptance, social approval, popularity, social status, leadership qualities, or any quality making him a socially desirable companion." []	1142537	\N	\N	EFO	3	EFO	material property	social desirability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004366	"A personality trait rendering the individual acceptable in social or interpersonal relations. It is related to social acceptance, social approval, popularity, social status, leadership qualities, or any quality making him a socially desirable companion." []	2025354	\N	\N	EFO	4	EFO	experimental factor	social desirability
EFO:0004367	\N	\N	"" []	EFO:0004367	"" []	66339	\N	\N	EFO	0	EFO	induces sterile inflammation	induces sterile inflammation
CHEBI:24432	EFO:0004367	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0004367	"" []	207573	\N	\N	EFO	1	EFO	biological role	induces sterile inflammation
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0004367	"" []	560704	\N	\N	EFO	2	EFO	role	induces sterile inflammation
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004367	"" []	1142538	\N	\N	EFO	3	EFO	material property	induces sterile inflammation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004367	"" []	2025355	\N	\N	EFO	4	EFO	experimental factor	induces sterile inflammation
EFO:0004368	\N	\N	"" []	EFO:0004368	"" []	66340	\N	\N	EFO	0	EFO	Number of molecules	Number of molecules
UO:0000000	EFO:0004368	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004368	"" []	207574	\N	\N	EFO	1	EFO	unit	Number of molecules
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004368	"" []	560705	\N	\N	EFO	2	EFO	information entity	Number of molecules
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004368	"" []	1142539	\N	\N	EFO	3	EFO	experimental factor	Number of molecules
EFO:0004370	\N	\N	"" []	EFO:0004370	"" []	66341	\N	\N	EFO	0	EFO	microgram per square centimeter	microgram per square centimeter
UO:0000051	EFO:0004370	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0004370	"" []	207575	\N	\N	EFO	1	EFO	concentration unit	microgram per square centimeter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0004370	"" []	560706	\N	\N	EFO	2	EFO	derived unit	microgram per square centimeter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004370	"" []	1142540	\N	\N	EFO	3	EFO	unit	microgram per square centimeter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004370	"" []	2025356	\N	\N	EFO	4	EFO	information entity	microgram per square centimeter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004370	"" []	3178087	\N	\N	EFO	5	EFO	experimental factor	microgram per square centimeter
EFO:0004371	\N	\N	"" []	EFO:0004371	"" []	66342	\N	\N	EFO	0	EFO	gram per kilogram per day	gram per kilogram per day
UO:0000051	EFO:0004371	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0004371	"" []	207576	\N	\N	EFO	1	EFO	concentration unit	gram per kilogram per day
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0004371	"" []	560707	\N	\N	EFO	2	EFO	derived unit	gram per kilogram per day
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004371	"" []	1142541	\N	\N	EFO	3	EFO	unit	gram per kilogram per day
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004371	"" []	2025357	\N	\N	EFO	4	EFO	information entity	gram per kilogram per day
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004371	"" []	3178088	\N	\N	EFO	5	EFO	experimental factor	gram per kilogram per day
EFO:0004373	\N	\N	"" []	EFO:0004373	"" []	66343	\N	\N	EFO	0	EFO	milligram per square meter	milligram per square meter
UO:0000051	EFO:0004373	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0004373	"" []	207577	\N	\N	EFO	1	EFO	concentration unit	milligram per square meter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0004373	"" []	560708	\N	\N	EFO	2	EFO	derived unit	milligram per square meter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004373	"" []	1142542	\N	\N	EFO	3	EFO	unit	milligram per square meter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004373	"" []	2025358	\N	\N	EFO	4	EFO	information entity	milligram per square meter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004373	"" []	3178089	\N	\N	EFO	5	EFO	experimental factor	milligram per square meter
EFO:0004374	\N	\N	"" []	EFO:0004374	"" []	66344	\N	\N	EFO	0	EFO	milligram per deciliter	milligram per deciliter
UO:0000051	EFO:0004374	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0004374	"" []	207578	\N	\N	EFO	1	EFO	concentration unit	milligram per deciliter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0004374	"" []	560709	\N	\N	EFO	2	EFO	derived unit	milligram per deciliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004374	"" []	1142543	\N	\N	EFO	3	EFO	unit	milligram per deciliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004374	"" []	2025359	\N	\N	EFO	4	EFO	information entity	milligram per deciliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004374	"" []	3178090	\N	\N	EFO	5	EFO	experimental factor	milligram per deciliter
EFO:0004378	\N	\N	"" []	EFO:0004378	"" []	66345	\N	\N	EFO	0	EFO	microgram per day	microgram per day
UO:0000051	EFO:0004378	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0004378	"" []	207579	\N	\N	EFO	1	EFO	concentration unit	microgram per day
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0004378	"" []	560710	\N	\N	EFO	2	EFO	derived unit	microgram per day
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004378	"" []	1142544	\N	\N	EFO	3	EFO	unit	microgram per day
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004378	"" []	2025360	\N	\N	EFO	4	EFO	information entity	microgram per day
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004378	"" []	3178091	\N	\N	EFO	5	EFO	experimental factor	microgram per day
EFO:0004379	\N	\N	"" []	EFO:0004379	"" []	66346	\N	\N	EFO	0	EFO	milli-International Unit per milliliter	milli-International Unit per milliliter
UO:0000000	EFO:0004379	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004379	"" []	207580	\N	\N	EFO	1	EFO	unit	milli-International Unit per milliliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004379	"" []	560711	\N	\N	EFO	2	EFO	information entity	milli-International Unit per milliliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004379	"" []	1142545	\N	\N	EFO	3	EFO	experimental factor	milli-International Unit per milliliter
EFO:0004381	\N	\N	"" []	EFO:0004381	"" []	66347	\N	\N	EFO	0	EFO	mole per liter	mole per liter
UO:0000055	EFO:0004381	\N	"A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." []	EFO:0004381	"" []	207581	\N	\N	EFO	1	EFO	molar mass unit	mole per liter
UO:0000046	UO:0000055	\N	"A unit which is derived from base units." []	EFO:0004381	"" []	560712	\N	\N	EFO	2	EFO	derived unit	mole per liter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004381	"" []	1142546	\N	\N	EFO	3	EFO	unit	mole per liter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004381	"" []	2025361	\N	\N	EFO	4	EFO	information entity	mole per liter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004381	"" []	3178092	\N	\N	EFO	5	EFO	experimental factor	mole per liter
EFO:0004382	\N	\N	"" []	EFO:0004382	"" []	66348	\N	\N	EFO	0	EFO	nanogram per liter	nanogram per liter
UO:0000051	EFO:0004382	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0004382	"" []	207582	\N	\N	EFO	1	EFO	concentration unit	nanogram per liter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0004382	"" []	560713	\N	\N	EFO	2	EFO	derived unit	nanogram per liter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004382	"" []	1142547	\N	\N	EFO	3	EFO	unit	nanogram per liter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004382	"" []	2025362	\N	\N	EFO	4	EFO	information entity	nanogram per liter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004382	"" []	3178093	\N	\N	EFO	5	EFO	experimental factor	nanogram per liter
EFO:0004383	\N	\N	"" []	EFO:0004383	"" []	66349	\N	\N	EFO	0	EFO	nanogram per microliter	nanogram per microliter
UO:0000051	EFO:0004383	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0004383	"" []	207583	\N	\N	EFO	1	EFO	concentration unit	nanogram per microliter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0004383	"" []	560714	\N	\N	EFO	2	EFO	derived unit	nanogram per microliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004383	"" []	1142548	\N	\N	EFO	3	EFO	unit	nanogram per microliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004383	"" []	2025363	\N	\N	EFO	4	EFO	information entity	nanogram per microliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004383	"" []	3178094	\N	\N	EFO	5	EFO	experimental factor	nanogram per microliter
EFO:0004384	\N	\N	"" []	EFO:0004384	"" []	66350	\N	\N	EFO	0	EFO	weight percent by volume	weight percent by volume
UO:0000051	EFO:0004384	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0004384	"" []	207584	\N	\N	EFO	1	EFO	concentration unit	weight percent by volume
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0004384	"" []	560715	\N	\N	EFO	2	EFO	derived unit	weight percent by volume
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004384	"" []	1142549	\N	\N	EFO	3	EFO	unit	weight percent by volume
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004384	"" []	2025364	\N	\N	EFO	4	EFO	information entity	weight percent by volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004384	"" []	3178095	\N	\N	EFO	5	EFO	experimental factor	weight percent by volume
EFO:0004385	\N	\N	"" []	EFO:0004385	"" []	66351	\N	\N	EFO	0	EFO	picogram per milliliter	picogram per milliliter
UO:0000051	EFO:0004385	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0004385	"" []	207585	\N	\N	EFO	1	EFO	concentration unit	picogram per milliliter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0004385	"" []	560716	\N	\N	EFO	2	EFO	derived unit	picogram per milliliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004385	"" []	1142550	\N	\N	EFO	3	EFO	unit	picogram per milliliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004385	"" []	2025365	\N	\N	EFO	4	EFO	information entity	picogram per milliliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004385	"" []	3178096	\N	\N	EFO	5	EFO	experimental factor	picogram per milliliter
EFO:0004386	\N	\N	"" []	EFO:0004386	"" []	66352	\N	\N	EFO	0	EFO	total particulate matter per liter	total particulate matter per liter
UO:0000051	EFO:0004386	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0004386	"" []	207586	\N	\N	EFO	1	EFO	concentration unit	total particulate matter per liter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0004386	"" []	560717	\N	\N	EFO	2	EFO	derived unit	total particulate matter per liter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004386	"" []	1142551	\N	\N	EFO	3	EFO	unit	total particulate matter per liter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004386	"" []	2025366	\N	\N	EFO	4	EFO	information entity	total particulate matter per liter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004386	"" []	3178097	\N	\N	EFO	5	EFO	experimental factor	total particulate matter per liter
EFO:0004387	\N	\N	"" []	EFO:0004387	"" []	66353	\N	\N	EFO	0	EFO	inch	inch
UO:0000001	EFO:0004387	\N	"A unit which is a standard measure of the distance between two points." []	EFO:0004387	"" []	207587	\N	\N	EFO	1	EFO	length unit	inch
UO:0000045	UO:0000001	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	EFO:0004387	"" []	560718	\N	\N	EFO	2	EFO	base unit	inch
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004387	"" []	1142552	\N	\N	EFO	3	EFO	unit	inch
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004387	"" []	2025367	\N	\N	EFO	4	EFO	information entity	inch
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004387	"" []	3178098	\N	\N	EFO	5	EFO	experimental factor	inch
EFO:0004388	\N	\N	"" []	EFO:0004388	"" []	66354	\N	\N	EFO	0	EFO	picomole per 10^6 cells	picomole per 10^6 cells
UO:0000051	EFO:0004388	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0004388	"" []	207588	\N	\N	EFO	1	EFO	concentration unit	picomole per 10^6 cells
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0004388	"" []	560719	\N	\N	EFO	2	EFO	derived unit	picomole per 10^6 cells
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004388	"" []	1142553	\N	\N	EFO	3	EFO	unit	picomole per 10^6 cells
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004388	"" []	2025368	\N	\N	EFO	4	EFO	information entity	picomole per 10^6 cells
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004388	"" []	3178099	\N	\N	EFO	5	EFO	experimental factor	picomole per 10^6 cells
EFO:0004389	\N	\N	"Human chordoma cell line" []	EFO:0004389	"Human chordoma cell line" []	66355	\N	\N	EFO	0	EFO	UCH-1	UCH-1
EFO:0002888	EFO:0004389	\N	"" []	EFO:0004389	"Human chordoma cell line" []	207589	\N	\N	EFO	1	EFO	Homo sapiens cell line	UCH-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0004389	"Human chordoma cell line" []	560720	\N	\N	EFO	2	EFO	cell line	UCH-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004389	"Human chordoma cell line" []	1142554	\N	\N	EFO	3	EFO	material entity	UCH-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004389	"Human chordoma cell line" []	2025369	\N	\N	EFO	4	EFO	experimental factor	UCH-1
EFO:0004390	\N	\N	"" []	EFO:0004390	"" []	66356	\N	\N	EFO	0	EFO	mouse postnatal	mouse postnatal
EFO:0002948	EFO:0004390	\N	"The time period after birth." []	EFO:0004390	"" []	207590	\N	\N	EFO	1	EFO	postnatal	mouse postnatal
EFO:0000399	EFO:0002948	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004390	"" []	560721	\N	\N	EFO	2	EFO	developmental stage	mouse postnatal
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004390	"" []	1142555	\N	\N	EFO	3	EFO	process	mouse postnatal
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004390	"" []	2025370	\N	\N	EFO	4	EFO	experimental factor	mouse postnatal
EFO:0004391	\N	\N	"Theiler stage 27 is a newborn mouse." []	EFO:0004391	"Theiler stage 27 is a newborn mouse." []	66357	\N	\N	EFO	0	EFO	Theiler stage 27	Theiler stage 27
EFO:0004390	EFO:0004391	\N	"" []	EFO:0004391	"Theiler stage 27 is a newborn mouse." []	207591	\N	\N	EFO	1	EFO	mouse postnatal	Theiler stage 27
EFO:0002948	EFO:0004390	\N	"The time period after birth." []	EFO:0004391	"Theiler stage 27 is a newborn mouse." []	560722	\N	\N	EFO	2	EFO	postnatal	Theiler stage 27
EFO:0000399	EFO:0002948	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004391	"Theiler stage 27 is a newborn mouse." []	1142556	\N	\N	EFO	3	EFO	developmental stage	Theiler stage 27
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004391	"Theiler stage 27 is a newborn mouse." []	2025371	\N	\N	EFO	4	EFO	process	Theiler stage 27
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004391	"Theiler stage 27 is a newborn mouse." []	3178100	\N	\N	EFO	5	EFO	experimental factor	Theiler stage 27
EFO:0004393	\N	\N	"" []	EFO:0004393	"" []	66358	\N	\N	EFO	0	EFO	Theiler stage 1	Theiler stage 1
EFO:0002543	EFO:0004393	\N	"" []	EFO:0004393	"" []	207592	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 1
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004393	"" []	560723	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 1
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004393	"" []	1142557	\N	\N	EFO	3	EFO	process	Theiler stage 1
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004393	"" []	2025372	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 1
EFO:0004394	\N	\N	"" []	EFO:0004394	"" []	66359	\N	\N	EFO	0	EFO	Theiler stage 2	Theiler stage 2
EFO:0002543	EFO:0004394	\N	"" []	EFO:0004394	"" []	207593	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 2
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004394	"" []	560724	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 2
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004394	"" []	1142558	\N	\N	EFO	3	EFO	process	Theiler stage 2
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004394	"" []	2025373	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 2
EFO:0004395	\N	\N	"" []	EFO:0004395	"" []	66360	\N	\N	EFO	0	EFO	Theiler stage 3	Theiler stage 3
EFO:0002543	EFO:0004395	\N	"" []	EFO:0004395	"" []	207594	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 3
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004395	"" []	560725	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 3
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004395	"" []	1142559	\N	\N	EFO	3	EFO	process	Theiler stage 3
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004395	"" []	2025374	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 3
EFO:0004396	\N	\N	"" []	EFO:0004396	"" []	66361	\N	\N	EFO	0	EFO	Theiler stage 4	Theiler stage 4
EFO:0002543	EFO:0004396	\N	"" []	EFO:0004396	"" []	207595	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 4
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004396	"" []	560726	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 4
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004396	"" []	1142560	\N	\N	EFO	3	EFO	process	Theiler stage 4
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004396	"" []	2025375	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 4
EFO:0004397	\N	\N	"" []	EFO:0004397	"" []	66362	\N	\N	EFO	0	EFO	Theiler stage 5	Theiler stage 5
EFO:0002543	EFO:0004397	\N	"" []	EFO:0004397	"" []	207596	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 5
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004397	"" []	560727	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 5
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004397	"" []	1142561	\N	\N	EFO	3	EFO	process	Theiler stage 5
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004397	"" []	2025376	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 5
EFO:0004398	\N	\N	"" []	EFO:0004398	"" []	66363	\N	\N	EFO	0	EFO	Theiler stage 6	Theiler stage 6
EFO:0002543	EFO:0004398	\N	"" []	EFO:0004398	"" []	207597	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 6
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004398	"" []	560728	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 6
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004398	"" []	1142562	\N	\N	EFO	3	EFO	process	Theiler stage 6
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004398	"" []	2025377	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 6
EFO:0004399	\N	\N	"" []	EFO:0004399	"" []	66364	\N	\N	EFO	0	EFO	Theiler stage 7	Theiler stage 7
EFO:0002543	EFO:0004399	\N	"" []	EFO:0004399	"" []	207598	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 7
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004399	"" []	560729	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 7
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004399	"" []	1142563	\N	\N	EFO	3	EFO	process	Theiler stage 7
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004399	"" []	2025378	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 7
EFO:0004400	\N	\N	"" []	EFO:0004400	"" []	66365	\N	\N	EFO	0	EFO	Theiler stage 8	Theiler stage 8
EFO:0002543	EFO:0004400	\N	"" []	EFO:0004400	"" []	207599	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 8
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004400	"" []	560730	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 8
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004400	"" []	1142564	\N	\N	EFO	3	EFO	process	Theiler stage 8
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004400	"" []	2025379	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 8
EFO:0004401	\N	\N	"" []	EFO:0004401	"" []	66366	\N	\N	EFO	0	EFO	Theiler stage 9	Theiler stage 9
EFO:0002543	EFO:0004401	\N	"" []	EFO:0004401	"" []	207600	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 9
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004401	"" []	560731	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 9
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004401	"" []	1142565	\N	\N	EFO	3	EFO	process	Theiler stage 9
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004401	"" []	2025380	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 9
EFO:0004402	\N	\N	"" []	EFO:0004402	"" []	66367	\N	\N	EFO	0	EFO	Theiler stage 10	Theiler stage 10
EFO:0002543	EFO:0004402	\N	"" []	EFO:0004402	"" []	207601	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 10
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004402	"" []	560732	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 10
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004402	"" []	1142566	\N	\N	EFO	3	EFO	process	Theiler stage 10
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004402	"" []	2025381	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 10
EFO:0004403	\N	\N	"" []	EFO:0004403	"" []	66368	\N	\N	EFO	0	EFO	Theiler stage 12	Theiler stage 12
EFO:0002543	EFO:0004403	\N	"" []	EFO:0004403	"" []	207602	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 12
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004403	"" []	560733	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 12
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004403	"" []	1142567	\N	\N	EFO	3	EFO	process	Theiler stage 12
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004403	"" []	2025382	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 12
EFO:0004404	\N	\N	"" []	EFO:0004404	"" []	66369	\N	\N	EFO	0	EFO	Theiler stage 13	Theiler stage 13
EFO:0002543	EFO:0004404	\N	"" []	EFO:0004404	"" []	207603	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 13
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004404	"" []	560734	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 13
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004404	"" []	1142568	\N	\N	EFO	3	EFO	process	Theiler stage 13
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004404	"" []	2025383	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 13
EFO:0004405	\N	\N	"" []	EFO:0004405	"" []	66370	\N	\N	EFO	0	EFO	Theiler stage 14	Theiler stage 14
EFO:0002543	EFO:0004405	\N	"" []	EFO:0004405	"" []	207604	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 14
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004405	"" []	560735	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 14
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004405	"" []	1142569	\N	\N	EFO	3	EFO	process	Theiler stage 14
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004405	"" []	2025384	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 14
EFO:0004406	\N	\N	"" []	EFO:0004406	"" []	66371	\N	\N	EFO	0	EFO	Theiler stage 15	Theiler stage 15
EFO:0002543	EFO:0004406	\N	"" []	EFO:0004406	"" []	207605	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 15
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004406	"" []	560736	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 15
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004406	"" []	1142570	\N	\N	EFO	3	EFO	process	Theiler stage 15
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004406	"" []	2025385	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 15
EFO:0004407	\N	\N	"" []	EFO:0004407	"" []	66372	\N	\N	EFO	0	EFO	Theiler stage 16	Theiler stage 16
EFO:0002543	EFO:0004407	\N	"" []	EFO:0004407	"" []	207606	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 16
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004407	"" []	560737	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 16
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004407	"" []	1142571	\N	\N	EFO	3	EFO	process	Theiler stage 16
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004407	"" []	2025386	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 16
EFO:0004408	\N	\N	"" []	EFO:0004408	"" []	66373	\N	\N	EFO	0	EFO	Theiler stage 18	Theiler stage 18
EFO:0002543	EFO:0004408	\N	"" []	EFO:0004408	"" []	207607	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 18
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004408	"" []	560738	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 18
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004408	"" []	1142572	\N	\N	EFO	3	EFO	process	Theiler stage 18
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004408	"" []	2025387	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 18
EFO:0004409	\N	\N	"" []	EFO:0004409	"" []	66374	\N	\N	EFO	0	EFO	Theiler stage 19	Theiler stage 19
EFO:0002543	EFO:0004409	\N	"" []	EFO:0004409	"" []	207608	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 19
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004409	"" []	560739	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 19
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004409	"" []	1142573	\N	\N	EFO	3	EFO	process	Theiler stage 19
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004409	"" []	2025388	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 19
EFO:0004410	\N	\N	"" []	EFO:0004410	"" []	66375	\N	\N	EFO	0	EFO	Theiler stage 20	Theiler stage 20
EFO:0002543	EFO:0004410	\N	"" []	EFO:0004410	"" []	207609	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 20
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004410	"" []	560740	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 20
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004410	"" []	1142574	\N	\N	EFO	3	EFO	process	Theiler stage 20
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004410	"" []	2025389	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 20
EFO:0004411	\N	\N	"" []	EFO:0004411	"" []	66376	\N	\N	EFO	0	EFO	Theiler stage 23	Theiler stage 23
EFO:0002543	EFO:0004411	\N	"" []	EFO:0004411	"" []	207610	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 23
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004411	"" []	560741	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 23
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004411	"" []	1142575	\N	\N	EFO	3	EFO	process	Theiler stage 23
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004411	"" []	2025390	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 23
EFO:0004412	\N	\N	"" []	EFO:0004412	"" []	66377	\N	\N	EFO	0	EFO	Theiler stage 25	Theiler stage 25
EFO:0002543	EFO:0004412	\N	"" []	EFO:0004412	"" []	207611	\N	\N	EFO	1	EFO	mouse prenatal	Theiler stage 25
EFO:0000399	EFO:0002543	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0004412	"" []	560742	\N	\N	EFO	2	EFO	developmental stage	Theiler stage 25
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004412	"" []	1142576	\N	\N	EFO	3	EFO	process	Theiler stage 25
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004412	"" []	2025391	\N	\N	EFO	4	EFO	experimental factor	Theiler stage 25
EFO:0004413	\N	\N	"" []	EFO:0004413	"" []	66378	\N	\N	EFO	0	EFO	microliter per liter	microliter per liter
UO:0000051	EFO:0004413	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0004413	"" []	207612	\N	\N	EFO	1	EFO	concentration unit	microliter per liter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0004413	"" []	560743	\N	\N	EFO	2	EFO	derived unit	microliter per liter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004413	"" []	1142577	\N	\N	EFO	3	EFO	unit	microliter per liter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004413	"" []	2025392	\N	\N	EFO	4	EFO	information entity	microliter per liter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004413	"" []	3178101	\N	\N	EFO	5	EFO	experimental factor	microliter per liter
EFO:0004414	\N	\N	"" []	EFO:0004414	"" []	66379	\N	\N	EFO	0	EFO	joule per square meter	joule per square meter
UO:0000007	EFO:0004414	\N	"A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." []	EFO:0004414	"" []	207613	\N	\N	EFO	1	EFO	luminous intensity unit	joule per square meter
UO:0000045	UO:0000007	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	EFO:0004414	"" []	560744	\N	\N	EFO	2	EFO	base unit	joule per square meter
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004414	"" []	1142578	\N	\N	EFO	3	EFO	unit	joule per square meter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004414	"" []	2025393	\N	\N	EFO	4	EFO	information entity	joule per square meter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004414	"" []	3178102	\N	\N	EFO	5	EFO	experimental factor	joule per square meter
EFO:0004415	\N	\N	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	EFO:0004415	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	66380	\N	\N	EFO	0	EFO	ionic salt	ionic salt
CHEBI:37577	EFO:0004415	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0004415	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	207614	\N	\N	EFO	1	EFO	chemical compound	ionic salt
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0004415	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	560745	\N	\N	EFO	2	EFO	chemical entity	ionic salt
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004415	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	1142579	\N	\N	EFO	3	EFO	material entity	ionic salt
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004415	"An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base." []	2025394	\N	\N	EFO	4	EFO	experimental factor	ionic salt
EFO:0004416	\N	\N	"" []	EFO:0004416	"" []	66381	\N	\N	EFO	0	EFO	acid	acid
CHEBI:37577	EFO:0004416	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0004416	"" []	207615	\N	\N	EFO	1	EFO	chemical compound	acid
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0004416	"" []	560746	\N	\N	EFO	2	EFO	chemical entity	acid
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004416	"" []	1142580	\N	\N	EFO	3	EFO	material entity	acid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004416	"" []	2025395	\N	\N	EFO	4	EFO	experimental factor	acid
EFO:0004417	\N	\N	"" []	EFO:0004417	"" []	66382	\N	\N	EFO	0	EFO	amide	amide
CHEBI:37577	EFO:0004417	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0004417	"" []	207616	\N	\N	EFO	1	EFO	chemical compound	amide
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0004417	"" []	560747	\N	\N	EFO	2	EFO	chemical entity	amide
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004417	"" []	1142581	\N	\N	EFO	3	EFO	material entity	amide
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004417	"" []	2025396	\N	\N	EFO	4	EFO	experimental factor	amide
EFO:0004418	\N	\N	"A unit which measures substance that passes through or onto a given area per unit of time." []	EFO:0004418	"A unit which measures substance that passes through or onto a given area per unit of time." []	66383	\N	\N	EFO	0	EFO	unit of flow rate	unit of flow rate
UO:0000046	EFO:0004418	\N	"A unit which is derived from base units." []	EFO:0004418	"A unit which measures substance that passes through or onto a given area per unit of time." []	207617	\N	\N	EFO	1	EFO	derived unit	unit of flow rate
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004418	"A unit which measures substance that passes through or onto a given area per unit of time." []	560748	\N	\N	EFO	2	EFO	unit	unit of flow rate
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004418	"A unit which measures substance that passes through or onto a given area per unit of time." []	1142582	\N	\N	EFO	3	EFO	information entity	unit of flow rate
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004418	"A unit which measures substance that passes through or onto a given area per unit of time." []	2025397	\N	\N	EFO	4	EFO	experimental factor	unit of flow rate
EFO:0004419	\N	\N	"A unit of mass flow rate equivalent to the rate at which one thousandth of a gram of matter crosses a given surface or is delivered to a given object or space over a period of time equal to twenty four hours. Milligram per twenty four hours is also a dose administration rate unit equal to the rate at which one thousandth of a gram of a product is administered per unit of time equal to twenty four hours." []	EFO:0004419	"A unit of mass flow rate equivalent to the rate at which one thousandth of a gram of matter crosses a given surface or is delivered to a given object or space over a period of time equal to twenty four hours. Milligram per twenty four hours is also a dose administration rate unit equal to the rate at which one thousandth of a gram of a product is administered per unit of time equal to twenty four hours." []	66384	\N	\N	EFO	0	EFO	milligram per day	milligram per day
EFO:0004418	EFO:0004419	\N	"A unit which measures substance that passes through or onto a given area per unit of time." []	EFO:0004419	"A unit of mass flow rate equivalent to the rate at which one thousandth of a gram of matter crosses a given surface or is delivered to a given object or space over a period of time equal to twenty four hours. Milligram per twenty four hours is also a dose administration rate unit equal to the rate at which one thousandth of a gram of a product is administered per unit of time equal to twenty four hours." []	207618	\N	\N	EFO	1	EFO	unit of flow rate	milligram per day
UO:0000046	EFO:0004418	\N	"A unit which is derived from base units." []	EFO:0004419	"A unit of mass flow rate equivalent to the rate at which one thousandth of a gram of matter crosses a given surface or is delivered to a given object or space over a period of time equal to twenty four hours. Milligram per twenty four hours is also a dose administration rate unit equal to the rate at which one thousandth of a gram of a product is administered per unit of time equal to twenty four hours." []	560749	\N	\N	EFO	2	EFO	derived unit	milligram per day
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004419	"A unit of mass flow rate equivalent to the rate at which one thousandth of a gram of matter crosses a given surface or is delivered to a given object or space over a period of time equal to twenty four hours. Milligram per twenty four hours is also a dose administration rate unit equal to the rate at which one thousandth of a gram of a product is administered per unit of time equal to twenty four hours." []	1142583	\N	\N	EFO	3	EFO	unit	milligram per day
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004419	"A unit of mass flow rate equivalent to the rate at which one thousandth of a gram of matter crosses a given surface or is delivered to a given object or space over a period of time equal to twenty four hours. Milligram per twenty four hours is also a dose administration rate unit equal to the rate at which one thousandth of a gram of a product is administered per unit of time equal to twenty four hours." []	2025398	\N	\N	EFO	4	EFO	information entity	milligram per day
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004419	"A unit of mass flow rate equivalent to the rate at which one thousandth of a gram of matter crosses a given surface or is delivered to a given object or space over a period of time equal to twenty four hours. Milligram per twenty four hours is also a dose administration rate unit equal to the rate at which one thousandth of a gram of a product is administered per unit of time equal to twenty four hours." []	3178103	\N	\N	EFO	5	EFO	experimental factor	milligram per day
EFO:0004420	\N	\N	"A genome is the full genetic content of an organism, contained in either DNA or RNA (such as for viruses)." []	EFO:0004420	"A genome is the full genetic content of an organism, contained in either DNA or RNA (such as for viruses)." []	66385	\N	\N	EFO	0	EFO	genome	genome
BFO:0000040	EFO:0004420	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004420	"A genome is the full genetic content of an organism, contained in either DNA or RNA (such as for viruses)." []	207619	\N	\N	EFO	1	EFO	material entity	genome
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004420	"A genome is the full genetic content of an organism, contained in either DNA or RNA (such as for viruses)." []	560750	\N	\N	EFO	2	EFO	experimental factor	genome
EFO:0004421	\N	\N	"The transcriptome is the set of all RNA molecules, including mRNA, rRNA, tRNA, and other non-coding RNA produced in one or a population of cells." []	EFO:0004421	"The transcriptome is the set of all RNA molecules, including mRNA, rRNA, tRNA, and other non-coding RNA produced in one or a population of cells." []	66386	\N	\N	EFO	0	EFO	transcriptome	transcriptome
BFO:0000040	EFO:0004421	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004421	"The transcriptome is the set of all RNA molecules, including mRNA, rRNA, tRNA, and other non-coding RNA produced in one or a population of cells." []	207620	\N	\N	EFO	1	EFO	material entity	transcriptome
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004421	"The transcriptome is the set of all RNA molecules, including mRNA, rRNA, tRNA, and other non-coding RNA produced in one or a population of cells." []	560751	\N	\N	EFO	2	EFO	experimental factor	transcriptome
EFO:0004422	\N	\N	"The exome is the part of the genome formed by the complete content of exons, coding portions of genes in the genome that are expressed." []	EFO:0004422	"The exome is the part of the genome formed by the complete content of exons, coding portions of genes in the genome that are expressed." []	66387	\N	\N	EFO	0	EFO	exome	exome
BFO:0000040	EFO:0004422	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004422	"The exome is the part of the genome formed by the complete content of exons, coding portions of genes in the genome that are expressed." []	207621	\N	\N	EFO	1	EFO	material entity	exome
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004422	"The exome is the part of the genome formed by the complete content of exons, coding portions of genes in the genome that are expressed." []	560752	\N	\N	EFO	2	EFO	experimental factor	exome
EFO:0004423	\N	\N	"An exon is a nucleic acid sequence that is represented in the mature form of an RNA molecule either after portions of a precursor RNA (introns) have been removed by cis-splicing or when two or more precursor RNA molecules have been ligated by trans-splicing." []	EFO:0004423	"An exon is a nucleic acid sequence that is represented in the mature form of an RNA molecule either after portions of a precursor RNA (introns) have been removed by cis-splicing or when two or more precursor RNA molecules have been ligated by trans-splicing." []	66388	\N	\N	EFO	0	EFO	exon	exon
BFO:0000040	EFO:0004423	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004423	"An exon is a nucleic acid sequence that is represented in the mature form of an RNA molecule either after portions of a precursor RNA (introns) have been removed by cis-splicing or when two or more precursor RNA molecules have been ligated by trans-splicing." []	207622	\N	\N	EFO	1	EFO	material entity	exon
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004423	"An exon is a nucleic acid sequence that is represented in the mature form of an RNA molecule either after portions of a precursor RNA (introns) have been removed by cis-splicing or when two or more precursor RNA molecules have been ligated by trans-splicing." []	560753	\N	\N	EFO	2	EFO	experimental factor	exon
EFO:0004424	\N	\N	"" []	EFO:0004424	"" []	66389	\N	\N	EFO	0	EFO	family relationship	family relationship
BFO:0000016	EFO:0004424	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004424	"" []	207623	\N	\N	EFO	1	EFO	disposition	family relationship
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004424	"" []	560754	\N	\N	EFO	2	EFO	material property	family relationship
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004424	"" []	1142584	\N	\N	EFO	3	EFO	experimental factor	family relationship
EFO:0004425	\N	\N	"The first time point measured at the start of some process." []	EFO:0004425	"The first time point measured at the start of some process." []	66390	\N	\N	EFO	0	EFO	initial time point	initial time point
EFO:0000724	EFO:0004425	\N	"Time point at which a sample or observation is made or taken from a biomaterial as measured from some reference point." []	EFO:0004425	"The first time point measured at the start of some process." []	207624	\N	\N	EFO	1	EFO	timepoint	initial time point
EFO:0000719	EFO:0000724	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004425	"The first time point measured at the start of some process." []	560755	\N	\N	EFO	2	EFO	temporal measurement	initial time point
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004425	"The first time point measured at the start of some process." []	1142585	\N	\N	EFO	3	EFO	measurement	initial time point
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004425	"The first time point measured at the start of some process." []	2025399	\N	\N	EFO	4	EFO	information entity	initial time point
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004425	"The first time point measured at the start of some process." []	3178104	\N	\N	EFO	5	EFO	experimental factor	initial time point
EFO:0004426	\N	\N	"A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell." []	EFO:0004426	"A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell." []	66391	\N	\N	EFO	0	EFO	karyotype	karyotype
BFO:0000019	EFO:0004426	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004426	"A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell." []	207625	\N	\N	EFO	1	EFO	quality	karyotype
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004426	"A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell." []	560756	\N	\N	EFO	2	EFO	material property	karyotype
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004426	"A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell." []	1142586	\N	\N	EFO	3	EFO	experimental factor	karyotype
EFO:0004427	\N	\N	"" []	EFO:0004427	"" []	66392	\N	\N	EFO	0	EFO	joule per square centimeter	joule per square centimeter
UO:0000007	EFO:0004427	\N	"A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." []	EFO:0004427	"" []	207626	\N	\N	EFO	1	EFO	luminous intensity unit	joule per square centimeter
UO:0000045	UO:0000007	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	EFO:0004427	"" []	560757	\N	\N	EFO	2	EFO	base unit	joule per square centimeter
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0004427	"" []	1142587	\N	\N	EFO	3	EFO	unit	joule per square centimeter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004427	"" []	2025400	\N	\N	EFO	4	EFO	information entity	joule per square centimeter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004427	"" []	3178105	\N	\N	EFO	5	EFO	experimental factor	joule per square centimeter
EFO:0004428	\N	\N	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	66393	\N	\N	EFO	0	EFO	FAIRE-seq	FAIRE-seq
EFO:0001456	EFO:0004428	\N	"An assay with input DNA" []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	207627	\N	\N	EFO	1	EFO	DNA assay	FAIRE-seq
EFO:0003740	EFO:0004428	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	207628	\N	\N	EFO	1	EFO	assay by sequencer	FAIRE-seq
EFO:0004102	EFO:0004428	\N	"Sequencing library strategy permitted in Atlas" []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	207629	\N	\N	EFO	1	EFO	seq library strategy	FAIRE-seq
EFO:0002772	EFO:0001456	\N	"" []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	560758	\N	\N	EFO	2	EFO	assay by molecule	FAIRE-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	560759	\N	\N	EFO	2	EFO	assay by instrument	FAIRE-seq
OBI:0000070	EFO:0004102	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	560760	\N	\N	EFO	2	EFO	assay	FAIRE-seq
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	1142588	\N	\N	EFO	3	EFO	assay	FAIRE-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	1142589	\N	\N	EFO	3	EFO	assay	FAIRE-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	2025401	\N	\N	EFO	4	EFO	experimental process	FAIRE-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	2999575	\N	\N	EFO	5	EFO	planned process	FAIRE-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	4132658	\N	\N	EFO	6	EFO	process	FAIRE-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004428	"FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna." []	5180980	\N	\N	EFO	7	EFO	experimental factor	FAIRE-seq
EFO:0004429	\N	\N	"Property of an organism which indicates that the organism's parents were genetically related (potentially for several generations). Inbreeding results in closer homozygosity." []	EFO:0004429	"Property of an organism which indicates that the organism's parents were genetically related (potentially for several generations). Inbreeding results in closer homozygosity." []	66394	\N	\N	EFO	0	EFO	inbred	inbred
BFO:0000019	EFO:0004429	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004429	"Property of an organism which indicates that the organism's parents were genetically related (potentially for several generations). Inbreeding results in closer homozygosity." []	207630	\N	\N	EFO	1	EFO	quality	inbred
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004429	"Property of an organism which indicates that the organism's parents were genetically related (potentially for several generations). Inbreeding results in closer homozygosity." []	560761	\N	\N	EFO	2	EFO	material property	inbred
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004429	"Property of an organism which indicates that the organism's parents were genetically related (potentially for several generations). Inbreeding results in closer homozygosity." []	1142591	\N	\N	EFO	3	EFO	experimental factor	inbred
EFO:0004430	\N	\N	"Propety of an organism which indicates that the organism's parents are not closely related (e.g. family members)." []	EFO:0004430	"Propety of an organism which indicates that the organism's parents are not closely related (e.g. family members)." []	66395	\N	\N	EFO	0	EFO	outbred	outbred
BFO:0000019	EFO:0004430	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004430	"Propety of an organism which indicates that the organism's parents are not closely related (e.g. family members)." []	207631	\N	\N	EFO	1	EFO	quality	outbred
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004430	"Propety of an organism which indicates that the organism's parents are not closely related (e.g. family members)." []	560762	\N	\N	EFO	2	EFO	material property	outbred
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004430	"Propety of an organism which indicates that the organism's parents are not closely related (e.g. family members)." []	1142592	\N	\N	EFO	3	EFO	experimental factor	outbred
EFO:0004431	\N	\N	"The 454 GS is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	EFO:0004431	"The 454 GS is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	66396	\N	\N	EFO	0	EFO	454 GS sequencer	454 GS sequencer
EFO:0002699	EFO:0004431	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004431	"The 454 GS is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	207632	\N	\N	EFO	1	EFO	high throughput sequencer	454 GS sequencer
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004431	"The 454 GS is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	560763	\N	\N	EFO	2	EFO	sequencer	454 GS sequencer
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004431	"The 454 GS is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	1142593	\N	\N	EFO	3	EFO	instrument	454 GS sequencer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004431	"The 454 GS is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	2025403	\N	\N	EFO	4	EFO	material entity	454 GS sequencer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004431	"The 454 GS is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	3178107	\N	\N	EFO	5	EFO	experimental factor	454 GS sequencer
EFO:0004432	\N	\N	"" []	EFO:0004432	"" []	66397	\N	\N	EFO	0	EFO	454 GS FLX sequencer	454 GS FLX sequencer
EFO:0002699	EFO:0004432	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004432	"" []	207633	\N	\N	EFO	1	EFO	high throughput sequencer	454 GS FLX sequencer
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004432	"" []	560764	\N	\N	EFO	2	EFO	sequencer	454 GS FLX sequencer
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004432	"" []	1142594	\N	\N	EFO	3	EFO	instrument	454 GS FLX sequencer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004432	"" []	2025404	\N	\N	EFO	4	EFO	material entity	454 GS FLX sequencer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004432	"" []	3178108	\N	\N	EFO	5	EFO	experimental factor	454 GS FLX sequencer
EFO:0004433	\N	\N	"The 454 GS FLX Titanium sequencer is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	EFO:0004433	"The 454 GS FLX Titanium sequencer is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	66398	\N	\N	EFO	0	EFO	454 GS FLX Titanium sequencer	454 GS FLX Titanium sequencer
EFO:0002699	EFO:0004433	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004433	"The 454 GS FLX Titanium sequencer is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	207634	\N	\N	EFO	1	EFO	high throughput sequencer	454 GS FLX Titanium sequencer
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004433	"The 454 GS FLX Titanium sequencer is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	560765	\N	\N	EFO	2	EFO	sequencer	454 GS FLX Titanium sequencer
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004433	"The 454 GS FLX Titanium sequencer is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	1142595	\N	\N	EFO	3	EFO	instrument	454 GS FLX Titanium sequencer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004433	"The 454 GS FLX Titanium sequencer is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	2025405	\N	\N	EFO	4	EFO	material entity	454 GS FLX Titanium sequencer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004433	"The 454 GS FLX Titanium sequencer is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	3178109	\N	\N	EFO	5	EFO	experimental factor	454 GS FLX Titanium sequencer
EFO:0004434	\N	\N	"The 454 GS Junior is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	EFO:0004434	"The 454 GS Junior is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	66399	\N	\N	EFO	0	EFO	454 GS Junior sequencer	454 GS Junior sequencer
EFO:0002699	EFO:0004434	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004434	"The 454 GS Junior is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	207635	\N	\N	EFO	1	EFO	high throughput sequencer	454 GS Junior sequencer
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004434	"The 454 GS Junior is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	560766	\N	\N	EFO	2	EFO	sequencer	454 GS Junior sequencer
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004434	"The 454 GS Junior is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	1142596	\N	\N	EFO	3	EFO	instrument	454 GS Junior sequencer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004434	"The 454 GS Junior is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	2025406	\N	\N	EFO	4	EFO	material entity	454 GS Junior sequencer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004434	"The 454 GS Junior is a GS high-throughput sequencing machine developed by 454 Life Sciences." []	3178110	\N	\N	EFO	5	EFO	experimental factor	454 GS Junior sequencer
EFO:0004435	\N	\N	"" []	EFO:0004435	"" []	66400	\N	\N	EFO	0	EFO	AB SOLiD System	AB SOLiD System
EFO:0002699	EFO:0004435	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004435	"" []	207636	\N	\N	EFO	1	EFO	high throughput sequencer	AB SOLiD System
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004435	"" []	560767	\N	\N	EFO	2	EFO	sequencer	AB SOLiD System
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004435	"" []	1142597	\N	\N	EFO	3	EFO	instrument	AB SOLiD System
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004435	"" []	2025407	\N	\N	EFO	4	EFO	material entity	AB SOLiD System
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004435	"" []	3178111	\N	\N	EFO	5	EFO	experimental factor	AB SOLiD System
EFO:0004436	\N	\N	"" []	EFO:0004436	"" []	66401	\N	\N	EFO	0	EFO	AB SOLiD 5500xl	AB SOLiD 5500xl
EFO:0002699	EFO:0004436	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004436	"" []	207637	\N	\N	EFO	1	EFO	high throughput sequencer	AB SOLiD 5500xl
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004436	"" []	560768	\N	\N	EFO	2	EFO	sequencer	AB SOLiD 5500xl
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004436	"" []	1142598	\N	\N	EFO	3	EFO	instrument	AB SOLiD 5500xl
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004436	"" []	2025408	\N	\N	EFO	4	EFO	material entity	AB SOLiD 5500xl
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004436	"" []	3178112	\N	\N	EFO	5	EFO	experimental factor	AB SOLiD 5500xl
EFO:0004437	\N	\N	"" []	EFO:0004437	"" []	66402	\N	\N	EFO	0	EFO	AB SOLiD PI System	AB SOLiD PI System
EFO:0002699	EFO:0004437	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004437	"" []	207638	\N	\N	EFO	1	EFO	high throughput sequencer	AB SOLiD PI System
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004437	"" []	560769	\N	\N	EFO	2	EFO	sequencer	AB SOLiD PI System
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004437	"" []	1142599	\N	\N	EFO	3	EFO	instrument	AB SOLiD PI System
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004437	"" []	2025409	\N	\N	EFO	4	EFO	material entity	AB SOLiD PI System
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004437	"" []	3178113	\N	\N	EFO	5	EFO	experimental factor	AB SOLiD PI System
EFO:0004438	\N	\N	"" []	EFO:0004438	"" []	66403	\N	\N	EFO	0	EFO	AB SOLiD 4 System	AB SOLiD 4 System
EFO:0002699	EFO:0004438	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004438	"" []	207639	\N	\N	EFO	1	EFO	high throughput sequencer	AB SOLiD 4 System
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004438	"" []	560770	\N	\N	EFO	2	EFO	sequencer	AB SOLiD 4 System
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004438	"" []	1142600	\N	\N	EFO	3	EFO	instrument	AB SOLiD 4 System
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004438	"" []	2025410	\N	\N	EFO	4	EFO	material entity	AB SOLiD 4 System
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004438	"" []	3178114	\N	\N	EFO	5	EFO	experimental factor	AB SOLiD 4 System
EFO:0004439	\N	\N	"" []	EFO:0004439	"" []	66404	\N	\N	EFO	0	EFO	AB SOLiD System 3.0	AB SOLiD System 3.0
EFO:0002699	EFO:0004439	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004439	"" []	207640	\N	\N	EFO	1	EFO	high throughput sequencer	AB SOLiD System 3.0
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004439	"" []	560771	\N	\N	EFO	2	EFO	sequencer	AB SOLiD System 3.0
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004439	"" []	1142601	\N	\N	EFO	3	EFO	instrument	AB SOLiD System 3.0
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004439	"" []	2025411	\N	\N	EFO	4	EFO	material entity	AB SOLiD System 3.0
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004439	"" []	3178115	\N	\N	EFO	5	EFO	experimental factor	AB SOLiD System 3.0
EFO:0004440	\N	\N	"" []	EFO:0004440	"" []	66405	\N	\N	EFO	0	EFO	AB SOLiD 5500	AB SOLiD 5500
EFO:0002699	EFO:0004440	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004440	"" []	207641	\N	\N	EFO	1	EFO	high throughput sequencer	AB SOLiD 5500
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004440	"" []	560772	\N	\N	EFO	2	EFO	sequencer	AB SOLiD 5500
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004440	"" []	1142602	\N	\N	EFO	3	EFO	instrument	AB SOLiD 5500
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004440	"" []	2025412	\N	\N	EFO	4	EFO	material entity	AB SOLiD 5500
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004440	"" []	3178116	\N	\N	EFO	5	EFO	experimental factor	AB SOLiD 5500
EFO:0004441	\N	\N	"" []	EFO:0004441	"" []	66406	\N	\N	EFO	0	EFO	AB SOLiD 4hq System	AB SOLiD 4hq System
EFO:0002699	EFO:0004441	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004441	"" []	207642	\N	\N	EFO	1	EFO	high throughput sequencer	AB SOLiD 4hq System
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004441	"" []	560773	\N	\N	EFO	2	EFO	sequencer	AB SOLiD 4hq System
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004441	"" []	1142603	\N	\N	EFO	3	EFO	instrument	AB SOLiD 4hq System
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004441	"" []	2025413	\N	\N	EFO	4	EFO	material entity	AB SOLiD 4hq System
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004441	"" []	3178117	\N	\N	EFO	5	EFO	experimental factor	AB SOLiD 4hq System
EFO:0004442	\N	\N	"" []	EFO:0004442	"" []	66407	\N	\N	EFO	0	EFO	AB SOLiD System 2.0	AB SOLiD System 2.0
EFO:0002699	EFO:0004442	\N	"Is an instrument is which supports massively parallel sequencing of nucleic acids" []	EFO:0004442	"" []	207643	\N	\N	EFO	1	EFO	high throughput sequencer	AB SOLiD System 2.0
EFO:0003739	EFO:0002699	\N	"" []	EFO:0004442	"" []	560774	\N	\N	EFO	2	EFO	sequencer	AB SOLiD System 2.0
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004442	"" []	1142604	\N	\N	EFO	3	EFO	instrument	AB SOLiD System 2.0
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004442	"" []	2025414	\N	\N	EFO	4	EFO	material entity	AB SOLiD System 2.0
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004442	"" []	3178118	\N	\N	EFO	5	EFO	experimental factor	AB SOLiD System 2.0
EFO:0004443	\N	\N	"An organization which has supplied material to another individual or organization, such as to be used in a biomedical investigation." []	EFO:0004443	"An organization which has supplied material to another individual or organization, such as to be used in a biomedical investigation." []	66408	\N	\N	EFO	0	EFO	material supplier	material supplier
OBI:0000245	EFO:0004443	\N	"An organization is a continuant entity which can play roles,  has members, and has a set of organization rules.  Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members." []	EFO:0004443	"An organization which has supplied material to another individual or organization, such as to be used in a biomedical investigation." []	207644	\N	\N	EFO	1	EFO	organization	material supplier
BFO:0000040	OBI:0000245	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004443	"An organization which has supplied material to another individual or organization, such as to be used in a biomedical investigation." []	560775	\N	\N	EFO	2	EFO	material entity	material supplier
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004443	"An organization which has supplied material to another individual or organization, such as to be used in a biomedical investigation." []	1142605	\N	\N	EFO	3	EFO	experimental factor	material supplier
EFO:0004444	\N	\N	"Information concerning the envinonrment a material entity has been exposed to, such as an organism from a lake." []	EFO:0004444	"Information concerning the envinonrment a material entity has been exposed to, such as an organism from a lake." []	66409	\N	\N	EFO	0	EFO	environmental history	environmental history
IAO:0000030	EFO:0004444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004444	"Information concerning the envinonrment a material entity has been exposed to, such as an organism from a lake." []	207645	\N	\N	EFO	1	EFO	information entity	environmental history
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004444	"Information concerning the envinonrment a material entity has been exposed to, such as an organism from a lake." []	560776	\N	\N	EFO	2	EFO	experimental factor	environmental history
EFO:0004445	\N	\N	"A cohort is a collection of material entities grouped together based on some common property of interest, such as age or disease stage." []	EFO:0004445	"A cohort is a collection of material entities grouped together based on some common property of interest, such as age or disease stage." []	66410	\N	\N	EFO	0	EFO	cohort	cohort
OBI:0000181	EFO:0004445	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0004445	"A cohort is a collection of material entities grouped together based on some common property of interest, such as age or disease stage." []	207646	\N	\N	EFO	1	EFO	population	cohort
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004445	"A cohort is a collection of material entities grouped together based on some common property of interest, such as age or disease stage." []	560777	\N	\N	EFO	2	EFO	material entity	cohort
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004445	"A cohort is a collection of material entities grouped together based on some common property of interest, such as age or disease stage." []	1142606	\N	\N	EFO	3	EFO	experimental factor	cohort
EFO:0004446	\N	\N	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	EFO:0004446	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	66411	\N	\N	EFO	0	EFO	biological macromolecule	biological macromolecule
BFO:0000040	EFO:0004446	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004446	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	207647	\N	\N	EFO	1	EFO	material entity	biological macromolecule
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004446	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	560778	\N	\N	EFO	2	EFO	experimental factor	biological macromolecule
EFO:0004447	\N	\N	"The role of a material which has been reviewed under peer review for quality control purposes." []	EFO:0004447	"The role of a material which has been reviewed under peer review for quality control purposes." []	66412	\N	\N	EFO	0	EFO	peer review quality control role	peer review quality control role
EFO:0002012	EFO:0004447	\N	"An organization role is a role which is borne by an organization." []	EFO:0004447	"The role of a material which has been reviewed under peer review for quality control purposes." []	207648	\N	\N	EFO	1	EFO	organization role	peer review quality control role
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0004447	"The role of a material which has been reviewed under peer review for quality control purposes." []	560779	\N	\N	EFO	2	EFO	role	peer review quality control role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004447	"The role of a material which has been reviewed under peer review for quality control purposes." []	1142607	\N	\N	EFO	3	EFO	material property	peer review quality control role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004447	"The role of a material which has been reviewed under peer review for quality control purposes." []	2025415	\N	\N	EFO	4	EFO	experimental factor	peer review quality control role
EFO:0004455	\N	\N	"Cot filtration is an experimental process that uses DNA renaturation kinetics (i.e. Cot analysis) to separate repetitive DNA sequences that dominate many eukaryotic genomes from low-copy sequences which are more gene rich." []	EFO:0004455	"Cot filtration is an experimental process that uses DNA renaturation kinetics (i.e. Cot analysis) to separate repetitive DNA sequences that dominate many eukaryotic genomes from low-copy sequences which are more gene rich." []	66413	\N	\N	EFO	0	EFO	cot filtration	cot filtration
EFO:0002694	EFO:0004455	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004455	"Cot filtration is an experimental process that uses DNA renaturation kinetics (i.e. Cot analysis) to separate repetitive DNA sequences that dominate many eukaryotic genomes from low-copy sequences which are more gene rich." []	207649	\N	\N	EFO	1	EFO	experimental process	cot filtration
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004455	"Cot filtration is an experimental process that uses DNA renaturation kinetics (i.e. Cot analysis) to separate repetitive DNA sequences that dominate many eukaryotic genomes from low-copy sequences which are more gene rich." []	560780	\N	\N	EFO	2	EFO	planned process	cot filtration
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004455	"Cot filtration is an experimental process that uses DNA renaturation kinetics (i.e. Cot analysis) to separate repetitive DNA sequences that dominate many eukaryotic genomes from low-copy sequences which are more gene rich." []	1142608	\N	\N	EFO	3	EFO	process	cot filtration
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004455	"Cot filtration is an experimental process that uses DNA renaturation kinetics (i.e. Cot analysis) to separate repetitive DNA sequences that dominate many eukaryotic genomes from low-copy sequences which are more gene rich." []	2025416	\N	\N	EFO	4	EFO	experimental factor	cot filtration
EFO:0004456	\N	\N	"" []	EFO:0004456	"" []	66414	\N	\N	EFO	0	EFO	reduce cholesterol levels	reduce cholesterol levels
EFO:0001899	EFO:0004456	\N	"" []	EFO:0004456	"" []	207650	\N	\N	EFO	1	EFO	drug role	reduce cholesterol levels
CHEBI:51086	EFO:0001899	\N	"A role played by the molecular entity or part thereof within a chemical context." []	EFO:0004456	"" []	560781	\N	\N	EFO	2	EFO	chemical role	reduce cholesterol levels
BFO:0000023	CHEBI:51086	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0004456	"" []	1142609	\N	\N	EFO	3	EFO	role	reduce cholesterol levels
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004456	"" []	2025417	\N	\N	EFO	4	EFO	material property	reduce cholesterol levels
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004456	"" []	3178119	\N	\N	EFO	5	EFO	experimental factor	reduce cholesterol levels
EFO:0004457	\N	\N	"Any chemical, biological or physical agents that increase the risk of neoplasms in humans or animals. Carcinogens include natural or synthesized compounds, certain viruses, and various sources of radiation. A carcinogen may directly alter the genetic material of cells (genotoxic), thereby initiating or promoting the process of malignant transformation; it also may induce cancers by mechanisms that do not involve a direct alteration of cellular genetic material (non-genotoxic). (NCI04)" []	EFO:0004457	"Any chemical, biological or physical agents that increase the risk of neoplasms in humans or animals. Carcinogens include natural or synthesized compounds, certain viruses, and various sources of radiation. A carcinogen may directly alter the genetic material of cells (genotoxic), thereby initiating or promoting the process of malignant transformation; it also may induce cancers by mechanisms that do not involve a direct alteration of cellular genetic material (non-genotoxic). (NCI04)" []	66415	\N	\N	EFO	0	EFO	carcinogen role	carcinogen role
BFO:0000023	EFO:0004457	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0004457	"Any chemical, biological or physical agents that increase the risk of neoplasms in humans or animals. Carcinogens include natural or synthesized compounds, certain viruses, and various sources of radiation. A carcinogen may directly alter the genetic material of cells (genotoxic), thereby initiating or promoting the process of malignant transformation; it also may induce cancers by mechanisms that do not involve a direct alteration of cellular genetic material (non-genotoxic). (NCI04)" []	207651	\N	\N	EFO	1	EFO	role	carcinogen role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004457	"Any chemical, biological or physical agents that increase the risk of neoplasms in humans or animals. Carcinogens include natural or synthesized compounds, certain viruses, and various sources of radiation. A carcinogen may directly alter the genetic material of cells (genotoxic), thereby initiating or promoting the process of malignant transformation; it also may induce cancers by mechanisms that do not involve a direct alteration of cellular genetic material (non-genotoxic). (NCI04)" []	560782	\N	\N	EFO	2	EFO	material property	carcinogen role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004457	"Any chemical, biological or physical agents that increase the risk of neoplasms in humans or animals. Carcinogens include natural or synthesized compounds, certain viruses, and various sources of radiation. A carcinogen may directly alter the genetic material of cells (genotoxic), thereby initiating or promoting the process of malignant transformation; it also may induce cancers by mechanisms that do not involve a direct alteration of cellular genetic material (non-genotoxic). (NCI04)" []	1142610	\N	\N	EFO	3	EFO	experimental factor	carcinogen role
EFO:0004458	\N	\N	"C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood.  Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers." []	EFO:0004458	"C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood.  Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers." []	66416	\N	\N	EFO	0	EFO	C-reactive protein measurement	C-reactive protein measurement
EFO:0004747	EFO:0004458	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004458	"C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood.  Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers." []	207652	\N	\N	EFO	1	EFO	protein measurement	C-reactive protein measurement
EFO:0004872	EFO:0004458	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004458	"C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood.  Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers." []	207653	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	C-reactive protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004458	"C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood.  Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers." []	560783	\N	\N	EFO	2	EFO	measurement	C-reactive protein measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004458	"C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood.  Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers." []	560784	\N	\N	EFO	2	EFO	measurement	C-reactive protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004458	"C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood.  Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers." []	1142611	\N	\N	EFO	3	EFO	information entity	C-reactive protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004458	"C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood.  Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers." []	2025418	\N	\N	EFO	4	EFO	experimental factor	C-reactive protein measurement
EFO:0004459	\N	\N	"A ferritin measurement a is measurement of ferritin level  in serum as an indicator of iron metabolism" []	EFO:0004459	"A ferritin measurement a is measurement of ferritin level  in serum as an indicator of iron metabolism" []	66417	\N	\N	EFO	0	EFO	ferritin measurement	ferritin measurement
EFO:0004461	EFO:0004459	\N	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	EFO:0004459	"A ferritin measurement a is measurement of ferritin level  in serum as an indicator of iron metabolism" []	207654	\N	\N	EFO	1	EFO	iron biomarker measurement	ferritin measurement
EFO:0001444	EFO:0004461	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004459	"A ferritin measurement a is measurement of ferritin level  in serum as an indicator of iron metabolism" []	560785	\N	\N	EFO	2	EFO	measurement	ferritin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004459	"A ferritin measurement a is measurement of ferritin level  in serum as an indicator of iron metabolism" []	1142612	\N	\N	EFO	3	EFO	information entity	ferritin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004459	"A ferritin measurement a is measurement of ferritin level  in serum as an indicator of iron metabolism" []	2025419	\N	\N	EFO	4	EFO	experimental factor	ferritin measurement
EFO:0004460	\N	\N	"A soluble transferrin receptor measurement  (sTfR) is a measure of the level of the Soluble transferrin receptor protein in blood as a measure of iron metabolism." []	EFO:0004460	"A soluble transferrin receptor measurement  (sTfR) is a measure of the level of the Soluble transferrin receptor protein in blood as a measure of iron metabolism." []	66418	\N	\N	EFO	0	EFO	soluble transferrin receptor measurement	soluble transferrin receptor measurement
EFO:0004461	EFO:0004460	\N	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	EFO:0004460	"A soluble transferrin receptor measurement  (sTfR) is a measure of the level of the Soluble transferrin receptor protein in blood as a measure of iron metabolism." []	207655	\N	\N	EFO	1	EFO	iron biomarker measurement	soluble transferrin receptor measurement
EFO:0004747	EFO:0004460	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004460	"A soluble transferrin receptor measurement  (sTfR) is a measure of the level of the Soluble transferrin receptor protein in blood as a measure of iron metabolism." []	207656	\N	\N	EFO	1	EFO	protein measurement	soluble transferrin receptor measurement
EFO:0001444	EFO:0004461	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004460	"A soluble transferrin receptor measurement  (sTfR) is a measure of the level of the Soluble transferrin receptor protein in blood as a measure of iron metabolism." []	560786	\N	\N	EFO	2	EFO	measurement	soluble transferrin receptor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004460	"A soluble transferrin receptor measurement  (sTfR) is a measure of the level of the Soluble transferrin receptor protein in blood as a measure of iron metabolism." []	560787	\N	\N	EFO	2	EFO	measurement	soluble transferrin receptor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004460	"A soluble transferrin receptor measurement  (sTfR) is a measure of the level of the Soluble transferrin receptor protein in blood as a measure of iron metabolism." []	1142613	\N	\N	EFO	3	EFO	information entity	soluble transferrin receptor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004460	"A soluble transferrin receptor measurement  (sTfR) is a measure of the level of the Soluble transferrin receptor protein in blood as a measure of iron metabolism." []	2025420	\N	\N	EFO	4	EFO	experimental factor	soluble transferrin receptor measurement
EFO:0004461	\N	\N	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	EFO:0004461	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	66419	\N	\N	EFO	0	EFO	iron biomarker measurement	iron biomarker measurement
EFO:0001444	EFO:0004461	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004461	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	207657	\N	\N	EFO	1	EFO	measurement	iron biomarker measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004461	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	560788	\N	\N	EFO	2	EFO	information entity	iron biomarker measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004461	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	1142614	\N	\N	EFO	3	EFO	experimental factor	iron biomarker measurement
EFO:0004462	\N	\N	"A PR interval is an  electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle" []	EFO:0004462	"A PR interval is an  electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle" []	66420	\N	\N	EFO	0	EFO	PR interval	PR interval
EFO:0004327	EFO:0004462	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0004462	"A PR interval is an  electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle" []	207658	\N	\N	EFO	1	EFO	electrocardiography	PR interval
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0004462	"A PR interval is an  electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle" []	560789	\N	\N	EFO	2	EFO	heart function measurement	PR interval
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004462	"A PR interval is an  electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle" []	1142615	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	PR interval
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004462	"A PR interval is an  electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle" []	2025421	\N	\N	EFO	4	EFO	cardiovascular measurement	PR interval
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004462	"A PR interval is an  electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle" []	3178120	\N	\N	EFO	5	EFO	measurement	PR interval
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004462	"A PR interval is an  electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle" []	4388074	\N	\N	EFO	6	EFO	information entity	PR interval
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004462	"A PR interval is an  electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle" []	5408746	\N	\N	EFO	7	EFO	experimental factor	PR interval
EFO:0004463	\N	\N	"angiotensin converting ezyme activity level" []	EFO:0004463	"angiotensin converting ezyme activity level" []	66421	\N	\N	EFO	0	EFO	angiotensin converting enzyme activity measurement	angiotensin converting enzyme activity measurement
EFO:0004747	EFO:0004463	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004463	"angiotensin converting ezyme activity level" []	207659	\N	\N	EFO	1	EFO	protein measurement	angiotensin converting enzyme activity measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004463	"angiotensin converting ezyme activity level" []	560790	\N	\N	EFO	2	EFO	measurement	angiotensin converting enzyme activity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004463	"angiotensin converting ezyme activity level" []	1142616	\N	\N	EFO	3	EFO	information entity	angiotensin converting enzyme activity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004463	"angiotensin converting ezyme activity level" []	2025422	\N	\N	EFO	4	EFO	experimental factor	angiotensin converting enzyme activity measurement
EFO:0004464	\N	\N	"" []	EFO:0004464	"" []	66422	\N	\N	EFO	0	EFO	brain measurement	brain measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004464	"" []	207660	\N	\N	EFO	1	EFO	measurement	brain measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004464	"" []	560791	\N	\N	EFO	2	EFO	information entity	brain measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004464	"" []	1142617	\N	\N	EFO	3	EFO	experimental factor	brain measurement
EFO:0004465	\N	\N	"An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating." []	EFO:0004465	"An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating." []	66423	\N	\N	EFO	0	EFO	fasting blood glucose measurement	fasting blood glucose measurement
EFO:0004468	EFO:0004465	\N	"Is any quantification of glucose." []	EFO:0004465	"An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating." []	207661	\N	\N	EFO	1	EFO	glucose measurement	fasting blood glucose measurement
EFO:0006842	EFO:0004468	\N	"" []	EFO:0004465	"An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating." []	560792	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	fasting blood glucose measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004465	"An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating." []	1142618	\N	\N	EFO	3	EFO	measurement	fasting blood glucose measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004465	"An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating." []	2025423	\N	\N	EFO	4	EFO	information entity	fasting blood glucose measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004465	"An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating." []	3178121	\N	\N	EFO	5	EFO	experimental factor	fasting blood glucose measurement
EFO:0004466	\N	\N	"A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" []	EFO:0004466	"A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" []	66424	\N	\N	EFO	0	EFO	fasting blood insulin measurement	fasting blood insulin measurement
EFO:0004467	EFO:0004466	\N	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	EFO:0004466	"A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" []	207662	\N	\N	EFO	1	EFO	insulin measurement	fasting blood insulin measurement
EFO:0004730	EFO:0004467	\N	"" []	EFO:0004466	"A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" []	560793	\N	\N	EFO	2	EFO	hormone measurement	fasting blood insulin measurement
EFO:0004747	EFO:0004467	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004466	"A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" []	560794	\N	\N	EFO	2	EFO	protein measurement	fasting blood insulin measurement
EFO:0006842	EFO:0004467	\N	"" []	EFO:0004466	"A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" []	560795	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	fasting blood insulin measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004466	"A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" []	1142619	\N	\N	EFO	3	EFO	measurement	fasting blood insulin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004466	"A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" []	1142620	\N	\N	EFO	3	EFO	measurement	fasting blood insulin measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004466	"A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" []	1142621	\N	\N	EFO	3	EFO	measurement	fasting blood insulin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004466	"A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" []	2025424	\N	\N	EFO	4	EFO	information entity	fasting blood insulin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004466	"A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" []	3178122	\N	\N	EFO	5	EFO	experimental factor	fasting blood insulin measurement
EFO:0004467	\N	\N	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	EFO:0004467	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	66425	\N	\N	EFO	0	EFO	insulin measurement	insulin measurement
EFO:0004730	EFO:0004467	\N	"" []	EFO:0004467	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	207663	\N	\N	EFO	1	EFO	hormone measurement	insulin measurement
EFO:0004747	EFO:0004467	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004467	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	207664	\N	\N	EFO	1	EFO	protein measurement	insulin measurement
EFO:0006842	EFO:0004467	\N	"" []	EFO:0004467	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	207665	\N	\N	EFO	1	EFO	diabetes mellitus biomarker	insulin measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004467	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	560796	\N	\N	EFO	2	EFO	measurement	insulin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004467	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	560797	\N	\N	EFO	2	EFO	measurement	insulin measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004467	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	560798	\N	\N	EFO	2	EFO	measurement	insulin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004467	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	1142622	\N	\N	EFO	3	EFO	information entity	insulin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004467	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	2025425	\N	\N	EFO	4	EFO	experimental factor	insulin measurement
EFO:0004468	\N	\N	"Is any quantification of glucose." []	EFO:0004468	"Is any quantification of glucose." []	66426	\N	\N	EFO	0	EFO	glucose measurement	glucose measurement
EFO:0006842	EFO:0004468	\N	"" []	EFO:0004468	"Is any quantification of glucose." []	207666	\N	\N	EFO	1	EFO	diabetes mellitus biomarker	glucose measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004468	"Is any quantification of glucose." []	560799	\N	\N	EFO	2	EFO	measurement	glucose measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004468	"Is any quantification of glucose." []	1142623	\N	\N	EFO	3	EFO	information entity	glucose measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004468	"Is any quantification of glucose." []	2025426	\N	\N	EFO	4	EFO	experimental factor	glucose measurement
EFO:0004469	\N	\N	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	EFO:0004469	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	66427	\N	\N	EFO	0	EFO	HOMA-B	HOMA-B
EFO:0004467	EFO:0004469	\N	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	EFO:0004469	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	207667	\N	\N	EFO	1	EFO	insulin measurement	HOMA-B
EFO:0004468	EFO:0004469	\N	"Is any quantification of glucose." []	EFO:0004469	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	207668	\N	\N	EFO	1	EFO	glucose measurement	HOMA-B
EFO:0004730	EFO:0004467	\N	"" []	EFO:0004469	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	560800	\N	\N	EFO	2	EFO	hormone measurement	HOMA-B
EFO:0004747	EFO:0004467	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004469	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	560801	\N	\N	EFO	2	EFO	protein measurement	HOMA-B
EFO:0006842	EFO:0004467	\N	"" []	EFO:0004469	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	560802	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	HOMA-B
EFO:0006842	EFO:0004468	\N	"" []	EFO:0004469	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	560803	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	HOMA-B
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004469	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	1142624	\N	\N	EFO	3	EFO	measurement	HOMA-B
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004469	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	1142625	\N	\N	EFO	3	EFO	measurement	HOMA-B
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004469	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	1142626	\N	\N	EFO	3	EFO	measurement	HOMA-B
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004469	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	2025427	\N	\N	EFO	4	EFO	information entity	HOMA-B
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004469	"The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function." []	3178123	\N	\N	EFO	5	EFO	experimental factor	HOMA-B
EFO:0004471	\N	\N	"An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test." []	EFO:0004471	"An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test." []	66428	\N	\N	EFO	0	EFO	insulin sensitivity measurement	insulin sensitivity measurement
EFO:0004467	EFO:0004471	\N	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	EFO:0004471	"An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test." []	207669	\N	\N	EFO	1	EFO	insulin measurement	insulin sensitivity measurement
EFO:0004730	EFO:0004467	\N	"" []	EFO:0004471	"An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test." []	560804	\N	\N	EFO	2	EFO	hormone measurement	insulin sensitivity measurement
EFO:0004747	EFO:0004467	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004471	"An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test." []	560805	\N	\N	EFO	2	EFO	protein measurement	insulin sensitivity measurement
EFO:0006842	EFO:0004467	\N	"" []	EFO:0004471	"An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test." []	560806	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	insulin sensitivity measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004471	"An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test." []	1142627	\N	\N	EFO	3	EFO	measurement	insulin sensitivity measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004471	"An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test." []	1142628	\N	\N	EFO	3	EFO	measurement	insulin sensitivity measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004471	"An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test." []	1142629	\N	\N	EFO	3	EFO	measurement	insulin sensitivity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004471	"An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test." []	2025428	\N	\N	EFO	4	EFO	information entity	insulin sensitivity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004471	"An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test." []	3178124	\N	\N	EFO	5	EFO	experimental factor	insulin sensitivity measurement
EFO:0004472	\N	\N	"C57BL/6 is a mouse strain as described in Jackson Laboratory strain index" []	EFO:0004472	"C57BL/6 is a mouse strain as described in Jackson Laboratory strain index" []	66429	\N	\N	EFO	0	EFO	C57BL/6	C57BL/6
EFO:0005181	EFO:0004472	\N	"An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology." []	EFO:0004472	"C57BL/6 is a mouse strain as described in Jackson Laboratory strain index" []	207670	\N	\N	EFO	1	EFO	C57BL	C57BL/6
EFO:0004500	\N	\N	"" []	EFO:0004500	"" []	66430	\N	\N	EFO	0	EFO	radiation induced mutation	radiation induced mutation
EFO:0005315	EFO:0004500	\N	"A genetic transformation that the modification of the genetic material (either coding or non-coding) of an organism is caused by mutagenic compounds or irradiation" []	EFO:0004500	"" []	207671	\N	\N	EFO	1	EFO	induced mutation	radiation induced mutation
EFO:0000510	EFO:0005315	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004500	"" []	560807	\N	\N	EFO	2	EFO	genetic modification	radiation induced mutation
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004500	"" []	1142630	\N	\N	EFO	3	EFO	experimental process	radiation induced mutation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004500	"" []	2025429	\N	\N	EFO	4	EFO	planned process	radiation induced mutation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004500	"" []	3178125	\N	\N	EFO	5	EFO	process	radiation induced mutation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004500	"" []	4388075	\N	\N	EFO	6	EFO	experimental factor	radiation induced mutation
EFO:0004501	\N	\N	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	EFO:0004501	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	66431	\N	\N	EFO	0	EFO	HOMA-IR	HOMA-IR
EFO:0004467	EFO:0004501	\N	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	EFO:0004501	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	207672	\N	\N	EFO	1	EFO	insulin measurement	HOMA-IR
EFO:0004468	EFO:0004501	\N	"Is any quantification of glucose." []	EFO:0004501	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	207673	\N	\N	EFO	1	EFO	glucose measurement	HOMA-IR
EFO:0004730	EFO:0004467	\N	"" []	EFO:0004501	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	560808	\N	\N	EFO	2	EFO	hormone measurement	HOMA-IR
EFO:0004747	EFO:0004467	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004501	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	560809	\N	\N	EFO	2	EFO	protein measurement	HOMA-IR
EFO:0006842	EFO:0004467	\N	"" []	EFO:0004501	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	560810	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	HOMA-IR
EFO:0006842	EFO:0004468	\N	"" []	EFO:0004501	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	560811	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	HOMA-IR
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004501	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	1142631	\N	\N	EFO	3	EFO	measurement	HOMA-IR
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004501	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	1142632	\N	\N	EFO	3	EFO	measurement	HOMA-IR
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004501	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	1142633	\N	\N	EFO	3	EFO	measurement	HOMA-IR
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004501	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	2025430	\N	\N	EFO	4	EFO	information entity	HOMA-IR
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004501	"The HOMA-IR measurement employs the homeostatic model assessment (HOMA)  to quantify insulin resistance." []	3178126	\N	\N	EFO	5	EFO	experimental factor	HOMA-IR
EFO:0004502	\N	\N	"Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Low circulating adiponectin concentrations (hypoadiponectinemia; <4 ?g/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), sleep apnea, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer). Hyperadiponectinemia is associated with cardiac, renal and pulmonary diseases." []	EFO:0004502	"Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Low circulating adiponectin concentrations (hypoadiponectinemia; <4 ?g/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), sleep apnea, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer). Hyperadiponectinemia is associated with cardiac, renal and pulmonary diseases." []	66432	\N	\N	EFO	0	EFO	adiponectin measurement	adiponectin measurement
EFO:0004730	EFO:0004502	\N	"" []	EFO:0004502	"Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Low circulating adiponectin concentrations (hypoadiponectinemia; <4 ?g/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), sleep apnea, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer). Hyperadiponectinemia is associated with cardiac, renal and pulmonary diseases." []	207674	\N	\N	EFO	1	EFO	hormone measurement	adiponectin measurement
EFO:0004747	EFO:0004502	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004502	"Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Low circulating adiponectin concentrations (hypoadiponectinemia; <4 ?g/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), sleep apnea, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer). Hyperadiponectinemia is associated with cardiac, renal and pulmonary diseases." []	207675	\N	\N	EFO	1	EFO	protein measurement	adiponectin measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004502	"Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Low circulating adiponectin concentrations (hypoadiponectinemia; <4 ?g/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), sleep apnea, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer). Hyperadiponectinemia is associated with cardiac, renal and pulmonary diseases." []	560812	\N	\N	EFO	2	EFO	measurement	adiponectin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004502	"Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Low circulating adiponectin concentrations (hypoadiponectinemia; <4 ?g/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), sleep apnea, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer). Hyperadiponectinemia is associated with cardiac, renal and pulmonary diseases." []	560813	\N	\N	EFO	2	EFO	measurement	adiponectin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004502	"Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Low circulating adiponectin concentrations (hypoadiponectinemia; <4 ?g/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), sleep apnea, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer). Hyperadiponectinemia is associated with cardiac, renal and pulmonary diseases." []	1142634	\N	\N	EFO	3	EFO	information entity	adiponectin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004502	"Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Low circulating adiponectin concentrations (hypoadiponectinemia; <4 ?g/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), sleep apnea, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer). Hyperadiponectinemia is associated with cardiac, renal and pulmonary diseases." []	2025431	\N	\N	EFO	4	EFO	experimental factor	adiponectin measurement
EFO:0004503	\N	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004503	"A measurement quantifying some blood cell, or component." []	66433	\N	\N	EFO	0	EFO	hematological measurement	hematological measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004503	"A measurement quantifying some blood cell, or component." []	207676	\N	\N	EFO	1	EFO	measurement	hematological measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004503	"A measurement quantifying some blood cell, or component." []	560814	\N	\N	EFO	2	EFO	information entity	hematological measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004503	"A measurement quantifying some blood cell, or component." []	1142635	\N	\N	EFO	3	EFO	experimental factor	hematological measurement
EFO:0004504	\N	\N	"A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism." []	EFO:0004504	"A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism." []	66434	\N	\N	EFO	0	EFO	serum hepcidin measurement	serum hepcidin measurement
EFO:0004461	EFO:0004504	\N	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	EFO:0004504	"A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism." []	207677	\N	\N	EFO	1	EFO	iron biomarker measurement	serum hepcidin measurement
EFO:0004730	EFO:0004504	\N	"" []	EFO:0004504	"A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism." []	207678	\N	\N	EFO	1	EFO	hormone measurement	serum hepcidin measurement
EFO:0001444	EFO:0004461	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004504	"A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism." []	560815	\N	\N	EFO	2	EFO	measurement	serum hepcidin measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004504	"A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism." []	560816	\N	\N	EFO	2	EFO	measurement	serum hepcidin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004504	"A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism." []	1142636	\N	\N	EFO	3	EFO	information entity	serum hepcidin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004504	"A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism." []	2025432	\N	\N	EFO	4	EFO	experimental factor	serum hepcidin measurement
EFO:0004505	\N	\N	"A measurement of telomere length measures the number of TTAGGG repeats at the end of the chromosome. As cell division proceeds telomeres shorten, telomere length is measure of cellular aging." []	EFO:0004505	"A measurement of telomere length measures the number of TTAGGG repeats at the end of the chromosome. As cell division proceeds telomeres shorten, telomere length is measure of cellular aging." []	66435	\N	\N	EFO	0	EFO	telomere length	telomere length
EFO:0004554	EFO:0004505	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0004505	"A measurement of telomere length measures the number of TTAGGG repeats at the end of the chromosome. As cell division proceeds telomeres shorten, telomere length is measure of cellular aging." []	207679	\N	\N	EFO	1	EFO	genomic measurement	telomere length
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004505	"A measurement of telomere length measures the number of TTAGGG repeats at the end of the chromosome. As cell division proceeds telomeres shorten, telomere length is measure of cellular aging." []	560817	\N	\N	EFO	2	EFO	measurement	telomere length
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004505	"A measurement of telomere length measures the number of TTAGGG repeats at the end of the chromosome. As cell division proceeds telomeres shorten, telomere length is measure of cellular aging." []	1142637	\N	\N	EFO	3	EFO	information entity	telomere length
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004505	"A measurement of telomere length measures the number of TTAGGG repeats at the end of the chromosome. As cell division proceeds telomeres shorten, telomere length is measure of cellular aging." []	2025433	\N	\N	EFO	4	EFO	experimental factor	telomere length
EFO:0004506	\N	\N	"A monocyte early outgrowth colony forming unit measurement is the result of a cell culture assay in which monocytes are plated on fibronectin plates and morphology and growth assessed in an assay which correlates circulating cells and vascular function. The output of the assay is a measure of how many colonies were formed, at what point and their morphology." []	EFO:0004506	"A monocyte early outgrowth colony forming unit measurement is the result of a cell culture assay in which monocytes are plated on fibronectin plates and morphology and growth assessed in an assay which correlates circulating cells and vascular function. The output of the assay is a measure of how many colonies were formed, at what point and their morphology." []	66436	\N	\N	EFO	0	EFO	monocyte early outgrowth colony forming unit	monocyte early outgrowth colony forming unit
EFO:0001444	EFO:0004506	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004506	"A monocyte early outgrowth colony forming unit measurement is the result of a cell culture assay in which monocytes are plated on fibronectin plates and morphology and growth assessed in an assay which correlates circulating cells and vascular function. The output of the assay is a measure of how many colonies were formed, at what point and their morphology." []	207680	\N	\N	EFO	1	EFO	measurement	monocyte early outgrowth colony forming unit
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004506	"A monocyte early outgrowth colony forming unit measurement is the result of a cell culture assay in which monocytes are plated on fibronectin plates and morphology and growth assessed in an assay which correlates circulating cells and vascular function. The output of the assay is a measure of how many colonies were formed, at what point and their morphology." []	560818	\N	\N	EFO	2	EFO	information entity	monocyte early outgrowth colony forming unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004506	"A monocyte early outgrowth colony forming unit measurement is the result of a cell culture assay in which monocytes are plated on fibronectin plates and morphology and growth assessed in an assay which correlates circulating cells and vascular function. The output of the assay is a measure of how many colonies were formed, at what point and their morphology." []	1142638	\N	\N	EFO	3	EFO	experimental factor	monocyte early outgrowth colony forming unit
EFO:0004507	\N	\N	"A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis." []	EFO:0004507	"A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis." []	66437	\N	\N	EFO	0	EFO	D dimer measurement	D dimer measurement
EFO:0004747	EFO:0004507	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004507	"A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis." []	207681	\N	\N	EFO	1	EFO	protein measurement	D dimer measurement
EFO:0005278	EFO:0004507	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004507	"A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis." []	207682	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	D dimer measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004507	"A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis." []	560819	\N	\N	EFO	2	EFO	measurement	D dimer measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004507	"A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis." []	560820	\N	\N	EFO	2	EFO	cardiovascular measurement	D dimer measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004507	"A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis." []	2025435	\N	\N	EFO	4	EFO	information entity	D dimer measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004507	"A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis." []	1142640	\N	\N	EFO	3	EFO	measurement	D dimer measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004507	"A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis." []	2999576	\N	\N	EFO	5	EFO	experimental factor	D dimer measurement
EFO:0004508	\N	\N	"Spine bone size is a measurement of the dimensions of the spine." []	EFO:0004508	"Spine bone size is a measurement of the dimensions of the spine." []	66438	\N	\N	EFO	0	EFO	spine bone size	spine bone size
EFO:0004512	EFO:0004508	\N	"" []	EFO:0004508	"Spine bone size is a measurement of the dimensions of the spine." []	207683	\N	\N	EFO	1	EFO	bone measurement	spine bone size
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004508	"Spine bone size is a measurement of the dimensions of the spine." []	560821	\N	\N	EFO	2	EFO	measurement	spine bone size
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004508	"Spine bone size is a measurement of the dimensions of the spine." []	1142641	\N	\N	EFO	3	EFO	information entity	spine bone size
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004508	"Spine bone size is a measurement of the dimensions of the spine." []	2025436	\N	\N	EFO	4	EFO	experimental factor	spine bone size
EFO:0004509	\N	\N	"Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia." []	EFO:0004509	"Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia." []	66439	\N	\N	EFO	0	EFO	hemoglobin measurement	hemoglobin measurement
EFO:0004503	EFO:0004509	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004509	"Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia." []	207684	\N	\N	EFO	1	EFO	hematological measurement	hemoglobin measurement
EFO:0004747	EFO:0004509	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004509	"Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia." []	207685	\N	\N	EFO	1	EFO	protein measurement	hemoglobin measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004509	"Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia." []	560822	\N	\N	EFO	2	EFO	measurement	hemoglobin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004509	"Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia." []	560823	\N	\N	EFO	2	EFO	measurement	hemoglobin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004509	"Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia." []	1142642	\N	\N	EFO	3	EFO	information entity	hemoglobin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004509	"Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia." []	2025437	\N	\N	EFO	4	EFO	experimental factor	hemoglobin measurement
EFO:0004510	\N	\N	"HPV seropositivity is the result of a measurement of circulating human papilloma virus specific antibodies used in the diagnosis of HPV infection." []	EFO:0004510	"HPV seropositivity is the result of a measurement of circulating human papilloma virus specific antibodies used in the diagnosis of HPV infection." []	66440	\N	\N	EFO	0	EFO	HPV seropositivity	HPV seropositivity
EFO:0006843	EFO:0004510	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0004510	"HPV seropositivity is the result of a measurement of circulating human papilloma virus specific antibodies used in the diagnosis of HPV infection." []	207686	\N	\N	EFO	1	EFO	infectious disease biomarker	HPV seropositivity
EFO:0007034	EFO:0004510	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0004510	"HPV seropositivity is the result of a measurement of circulating human papilloma virus specific antibodies used in the diagnosis of HPV infection." []	207687	\N	\N	EFO	1	EFO	seropositivity measurement	HPV seropositivity
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004510	"HPV seropositivity is the result of a measurement of circulating human papilloma virus specific antibodies used in the diagnosis of HPV infection." []	560824	\N	\N	EFO	2	EFO	measurement	HPV seropositivity
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004510	"HPV seropositivity is the result of a measurement of circulating human papilloma virus specific antibodies used in the diagnosis of HPV infection." []	560825	\N	\N	EFO	2	EFO	measurement	HPV seropositivity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004510	"HPV seropositivity is the result of a measurement of circulating human papilloma virus specific antibodies used in the diagnosis of HPV infection." []	1142643	\N	\N	EFO	3	EFO	information entity	HPV seropositivity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004510	"HPV seropositivity is the result of a measurement of circulating human papilloma virus specific antibodies used in the diagnosis of HPV infection." []	2025438	\N	\N	EFO	4	EFO	experimental factor	HPV seropositivity
EFO:0004511	\N	\N	"Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture." []	EFO:0004511	"Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture." []	66441	\N	\N	EFO	0	EFO	femoral neck bone geometry	femoral neck bone geometry
EFO:0004513	EFO:0004511	\N	"Bone geometry is the measure of the dimensions of some bone. Bone geometry is used as a predictive indicator of fracture risk." []	EFO:0004511	"Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture." []	207688	\N	\N	EFO	1	EFO	bone geometry	femoral neck bone geometry
EFO:0004302	EFO:0004513	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004511	"Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture." []	560826	\N	\N	EFO	2	EFO	anthropometric measurement	femoral neck bone geometry
EFO:0004516	EFO:0004513	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0004511	"Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture." []	560827	\N	\N	EFO	2	EFO	bone fracture related measurement	femoral neck bone geometry
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004511	"Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture." []	1142644	\N	\N	EFO	3	EFO	measurement	femoral neck bone geometry
EFO:0004512	EFO:0004516	\N	"" []	EFO:0004511	"Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture." []	1142645	\N	\N	EFO	3	EFO	bone measurement	femoral neck bone geometry
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004511	"Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture." []	3178128	\N	\N	EFO	5	EFO	information entity	femoral neck bone geometry
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004511	"Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture." []	2025440	\N	\N	EFO	4	EFO	measurement	femoral neck bone geometry
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004511	"Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture." []	4132659	\N	\N	EFO	6	EFO	experimental factor	femoral neck bone geometry
EFO:0004512	\N	\N	"" []	EFO:0004512	"" []	66442	\N	\N	EFO	0	EFO	bone measurement	bone measurement
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004512	"" []	207689	\N	\N	EFO	1	EFO	measurement	bone measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004512	"" []	560828	\N	\N	EFO	2	EFO	information entity	bone measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004512	"" []	1142646	\N	\N	EFO	3	EFO	experimental factor	bone measurement
EFO:0004513	\N	\N	"Bone geometry is the measure of the dimensions of some bone. Bone geometry is used as a predictive indicator of fracture risk." []	EFO:0004513	"Bone geometry is the measure of the dimensions of some bone. Bone geometry is used as a predictive indicator of fracture risk." []	66443	\N	\N	EFO	0	EFO	bone geometry	bone geometry
EFO:0004302	EFO:0004513	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004513	"Bone geometry is the measure of the dimensions of some bone. Bone geometry is used as a predictive indicator of fracture risk." []	207690	\N	\N	EFO	1	EFO	anthropometric measurement	bone geometry
EFO:0004516	EFO:0004513	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0004513	"Bone geometry is the measure of the dimensions of some bone. Bone geometry is used as a predictive indicator of fracture risk." []	207691	\N	\N	EFO	1	EFO	bone fracture related measurement	bone geometry
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004513	"Bone geometry is the measure of the dimensions of some bone. Bone geometry is used as a predictive indicator of fracture risk." []	560829	\N	\N	EFO	2	EFO	measurement	bone geometry
EFO:0004512	EFO:0004516	\N	"" []	EFO:0004513	"Bone geometry is the measure of the dimensions of some bone. Bone geometry is used as a predictive indicator of fracture risk." []	560830	\N	\N	EFO	2	EFO	bone measurement	bone geometry
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004513	"Bone geometry is the measure of the dimensions of some bone. Bone geometry is used as a predictive indicator of fracture risk." []	2025442	\N	\N	EFO	4	EFO	information entity	bone geometry
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004513	"Bone geometry is the measure of the dimensions of some bone. Bone geometry is used as a predictive indicator of fracture risk." []	1142648	\N	\N	EFO	3	EFO	measurement	bone geometry
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004513	"Bone geometry is the measure of the dimensions of some bone. Bone geometry is used as a predictive indicator of fracture risk." []	2999577	\N	\N	EFO	5	EFO	experimental factor	bone geometry
EFO:0004514	\N	\N	"A bone quantitative ultrasound measurement is the output of a an ultrasound process in which bones are assayed using ultrasound and information about bone density, cortical thickness, elasticity and microarchitecture may be returned." []	EFO:0004514	"A bone quantitative ultrasound measurement is the output of a an ultrasound process in which bones are assayed using ultrasound and information about bone density, cortical thickness, elasticity and microarchitecture may be returned." []	66444	\N	\N	EFO	0	EFO	bone quantitative ultrasound measurement	bone quantitative ultrasound measurement
EFO:0004516	EFO:0004514	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0004514	"A bone quantitative ultrasound measurement is the output of a an ultrasound process in which bones are assayed using ultrasound and information about bone density, cortical thickness, elasticity and microarchitecture may be returned." []	207692	\N	\N	EFO	1	EFO	bone fracture related measurement	bone quantitative ultrasound measurement
EFO:0004512	EFO:0004516	\N	"" []	EFO:0004514	"A bone quantitative ultrasound measurement is the output of a an ultrasound process in which bones are assayed using ultrasound and information about bone density, cortical thickness, elasticity and microarchitecture may be returned." []	560831	\N	\N	EFO	2	EFO	bone measurement	bone quantitative ultrasound measurement
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004514	"A bone quantitative ultrasound measurement is the output of a an ultrasound process in which bones are assayed using ultrasound and information about bone density, cortical thickness, elasticity and microarchitecture may be returned." []	1142649	\N	\N	EFO	3	EFO	measurement	bone quantitative ultrasound measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004514	"A bone quantitative ultrasound measurement is the output of a an ultrasound process in which bones are assayed using ultrasound and information about bone density, cortical thickness, elasticity and microarchitecture may be returned." []	2025443	\N	\N	EFO	4	EFO	information entity	bone quantitative ultrasound measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004514	"A bone quantitative ultrasound measurement is the output of a an ultrasound process in which bones are assayed using ultrasound and information about bone density, cortical thickness, elasticity and microarchitecture may be returned." []	3178129	\N	\N	EFO	5	EFO	experimental factor	bone quantitative ultrasound measurement
EFO:0004515	\N	\N	"A muscle mass measurement is the quantification of the mass of a muscle e.g. skeletal muscle for an individual." []	EFO:0004515	"A muscle mass measurement is the quantification of the mass of a muscle e.g. skeletal muscle for an individual." []	66445	\N	\N	EFO	0	EFO	muscle measurement	muscle measurement
EFO:0004302	EFO:0004515	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004515	"A muscle mass measurement is the quantification of the mass of a muscle e.g. skeletal muscle for an individual." []	207693	\N	\N	EFO	1	EFO	anthropometric measurement	muscle measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004515	"A muscle mass measurement is the quantification of the mass of a muscle e.g. skeletal muscle for an individual." []	560832	\N	\N	EFO	2	EFO	measurement	muscle measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004515	"A muscle mass measurement is the quantification of the mass of a muscle e.g. skeletal muscle for an individual." []	1142650	\N	\N	EFO	3	EFO	information entity	muscle measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004515	"A muscle mass measurement is the quantification of the mass of a muscle e.g. skeletal muscle for an individual." []	2025444	\N	\N	EFO	4	EFO	experimental factor	muscle measurement
EFO:0004516	\N	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0004516	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	66446	\N	\N	EFO	0	EFO	bone fracture related measurement	bone fracture related measurement
EFO:0004512	EFO:0004516	\N	"" []	EFO:0004516	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	207694	\N	\N	EFO	1	EFO	bone measurement	bone fracture related measurement
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004516	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	560833	\N	\N	EFO	2	EFO	measurement	bone fracture related measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004516	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	1142651	\N	\N	EFO	3	EFO	information entity	bone fracture related measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004516	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	2025445	\N	\N	EFO	4	EFO	experimental factor	bone fracture related measurement
EFO:0004517	\N	\N	"An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality" []	EFO:0004517	"An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality" []	66447	\N	\N	EFO	0	EFO	arterial stiffness measurement	arterial stiffness measurement
EFO:0005278	EFO:0004517	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004517	"An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality" []	207695	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	arterial stiffness measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004517	"An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality" []	560834	\N	\N	EFO	2	EFO	cardiovascular measurement	arterial stiffness measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004517	"An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality" []	1142652	\N	\N	EFO	3	EFO	measurement	arterial stiffness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004517	"An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality" []	2025446	\N	\N	EFO	4	EFO	information entity	arterial stiffness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004517	"An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality" []	3178130	\N	\N	EFO	5	EFO	experimental factor	arterial stiffness measurement
EFO:0004518	\N	\N	"A serum creatinine measurement is a measure of the metabolite creatinine performed in the serum, and is used in assessment of kidney function." []	EFO:0004518	"A serum creatinine measurement is a measure of the metabolite creatinine performed in the serum, and is used in assessment of kidney function." []	66448	\N	\N	EFO	0	EFO	serum creatinine measurement	serum creatinine measurement
EFO:0004725	EFO:0004518	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0004518	"A serum creatinine measurement is a measure of the metabolite creatinine performed in the serum, and is used in assessment of kidney function." []	207696	\N	\N	EFO	1	EFO	metabolite measurement	serum creatinine measurement
EFO:0004742	EFO:0004518	\N	"Is a quantification of some renal system biomarker" []	EFO:0004518	"A serum creatinine measurement is a measure of the metabolite creatinine performed in the serum, and is used in assessment of kidney function." []	207697	\N	\N	EFO	1	EFO	renal system measurement	serum creatinine measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004518	"A serum creatinine measurement is a measure of the metabolite creatinine performed in the serum, and is used in assessment of kidney function." []	560835	\N	\N	EFO	2	EFO	measurement	serum creatinine measurement
EFO:0001444	EFO:0004742	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004518	"A serum creatinine measurement is a measure of the metabolite creatinine performed in the serum, and is used in assessment of kidney function." []	560836	\N	\N	EFO	2	EFO	measurement	serum creatinine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004518	"A serum creatinine measurement is a measure of the metabolite creatinine performed in the serum, and is used in assessment of kidney function." []	1142653	\N	\N	EFO	3	EFO	information entity	serum creatinine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004518	"A serum creatinine measurement is a measure of the metabolite creatinine performed in the serum, and is used in assessment of kidney function." []	2025447	\N	\N	EFO	4	EFO	experimental factor	serum creatinine measurement
EFO:0004519	\N	\N	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	EFO:0004519	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	66449	\N	\N	EFO	0	EFO	soluble P-selectin measurement	soluble P-selectin measurement
EFO:0004522	EFO:0004519	\N	"A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events." []	EFO:0004519	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	207698	\N	\N	EFO	1	EFO	adhesion molecule measurement	soluble P-selectin measurement
EFO:0004747	EFO:0004519	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004519	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	207699	\N	\N	EFO	1	EFO	protein measurement	soluble P-selectin measurement
EFO:0004872	EFO:0004519	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004519	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	207700	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	soluble P-selectin measurement
EFO:0005278	EFO:0004519	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004519	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	207701	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	soluble P-selectin measurement
EFO:0001444	EFO:0004522	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004519	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	560837	\N	\N	EFO	2	EFO	measurement	soluble P-selectin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004519	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	560838	\N	\N	EFO	2	EFO	measurement	soluble P-selectin measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004519	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	560839	\N	\N	EFO	2	EFO	measurement	soluble P-selectin measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004519	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	560840	\N	\N	EFO	2	EFO	cardiovascular measurement	soluble P-selectin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004519	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	2025449	\N	\N	EFO	4	EFO	information entity	soluble P-selectin measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004519	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	1142655	\N	\N	EFO	3	EFO	measurement	soluble P-selectin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004519	"The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:\\nCD62 antigen-like family member P\\nGranule membrane protein 140\\nGMP-140\\nLeukocyte-endothelial cell adhesion molecule 3\\nLECAM3\\nPlatelet activation dependent granule-external membrane protein\\nPADGEM" []	2999578	\N	\N	EFO	5	EFO	experimental factor	soluble P-selectin measurement
EFO:0004520	\N	\N	"A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events." []	EFO:0004520	"A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events." []	66450	\N	\N	EFO	0	EFO	ICAM-1 measurement	ICAM-1 measurement
EFO:0004522	EFO:0004520	\N	"A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events." []	EFO:0004520	"A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events." []	207702	\N	\N	EFO	1	EFO	adhesion molecule measurement	ICAM-1 measurement
EFO:0004747	EFO:0004520	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004520	"A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events." []	207703	\N	\N	EFO	1	EFO	protein measurement	ICAM-1 measurement
EFO:0005278	EFO:0004520	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004520	"A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events." []	207704	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	ICAM-1 measurement
EFO:0001444	EFO:0004522	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004520	"A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events." []	560841	\N	\N	EFO	2	EFO	measurement	ICAM-1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004520	"A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events." []	560842	\N	\N	EFO	2	EFO	measurement	ICAM-1 measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004520	"A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events." []	560843	\N	\N	EFO	2	EFO	cardiovascular measurement	ICAM-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004520	"A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events." []	2025451	\N	\N	EFO	4	EFO	information entity	ICAM-1 measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004520	"A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events." []	1142657	\N	\N	EFO	3	EFO	measurement	ICAM-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004520	"A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events." []	2999579	\N	\N	EFO	5	EFO	experimental factor	ICAM-1 measurement
EFO:0004521	\N	\N	"A biological macromolecule that has an adhesion disposition." []	EFO:0004521	"A biological macromolecule that has an adhesion disposition." []	66451	\N	\N	EFO	0	EFO	adhesion factor	adhesion factor
EFO:0004446	EFO:0004521	\N	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	EFO:0004521	"A biological macromolecule that has an adhesion disposition." []	207705	\N	\N	EFO	1	EFO	biological macromolecule	adhesion factor
BFO:0000040	EFO:0004446	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004521	"A biological macromolecule that has an adhesion disposition." []	560844	\N	\N	EFO	2	EFO	material entity	adhesion factor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004521	"A biological macromolecule that has an adhesion disposition." []	1142658	\N	\N	EFO	3	EFO	experimental factor	adhesion factor
EFO:0004522	\N	\N	"A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events." []	EFO:0004522	"A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events." []	66452	\N	\N	EFO	0	EFO	adhesion molecule measurement	adhesion molecule measurement
EFO:0001444	EFO:0004522	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004522	"A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events." []	207706	\N	\N	EFO	1	EFO	measurement	adhesion molecule measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004522	"A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events." []	560845	\N	\N	EFO	2	EFO	information entity	adhesion molecule measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004522	"A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events." []	1142659	\N	\N	EFO	3	EFO	experimental factor	adhesion molecule measurement
EFO:0004526	\N	\N	"A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample." []	EFO:0004526	"A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample." []	66453	\N	\N	EFO	0	EFO	mean corpuscular volume	mean corpuscular volume
EFO:0004306	EFO:0004526	\N	"ERYTHROCYTEsize andHEMOGLOBINcontent or concentration, usually derived fromERYTHROCYTE COUNT;BLOODhemoglobin concentration; andHEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC)." []	EFO:0004526	"A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample." []	207707	\N	\N	EFO	1	EFO	erythrocyte indices	mean corpuscular volume
EFO:0005047	EFO:0004306	\N	"Is a quantification of some aspect of erythrocyte function, quanity, or composition." []	EFO:0004526	"A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample." []	560846	\N	\N	EFO	2	EFO	erythrocyte measurement	mean corpuscular volume
EFO:0004503	EFO:0005047	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004526	"A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample." []	1142660	\N	\N	EFO	3	EFO	hematological measurement	mean corpuscular volume
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004526	"A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample." []	2025452	\N	\N	EFO	4	EFO	measurement	mean corpuscular volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004526	"A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample." []	3178131	\N	\N	EFO	5	EFO	information entity	mean corpuscular volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004526	"A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample." []	4388076	\N	\N	EFO	6	EFO	experimental factor	mean corpuscular volume
EFO:0004527	\N	\N	"The MCH is  the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count" []	EFO:0004527	"The MCH is  the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count" []	66454	\N	\N	EFO	0	EFO	mean corpuscular hemoglobin	mean corpuscular hemoglobin
EFO:0004306	EFO:0004527	\N	"ERYTHROCYTEsize andHEMOGLOBINcontent or concentration, usually derived fromERYTHROCYTE COUNT;BLOODhemoglobin concentration; andHEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC)." []	EFO:0004527	"The MCH is  the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count" []	207708	\N	\N	EFO	1	EFO	erythrocyte indices	mean corpuscular hemoglobin
EFO:0005047	EFO:0004306	\N	"Is a quantification of some aspect of erythrocyte function, quanity, or composition." []	EFO:0004527	"The MCH is  the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count" []	560847	\N	\N	EFO	2	EFO	erythrocyte measurement	mean corpuscular hemoglobin
EFO:0004503	EFO:0005047	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004527	"The MCH is  the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count" []	1142661	\N	\N	EFO	3	EFO	hematological measurement	mean corpuscular hemoglobin
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004527	"The MCH is  the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count" []	2025453	\N	\N	EFO	4	EFO	measurement	mean corpuscular hemoglobin
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004527	"The MCH is  the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count" []	3178132	\N	\N	EFO	5	EFO	information entity	mean corpuscular hemoglobin
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004527	"The MCH is  the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count" []	4388077	\N	\N	EFO	6	EFO	experimental factor	mean corpuscular hemoglobin
EFO:0004528	\N	\N	"The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell" []	EFO:0004528	"The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell" []	66455	\N	\N	EFO	0	EFO	mean corpuscular hemoglobin concentration	mean corpuscular hemoglobin concentration
EFO:0004306	EFO:0004528	\N	"ERYTHROCYTEsize andHEMOGLOBINcontent or concentration, usually derived fromERYTHROCYTE COUNT;BLOODhemoglobin concentration; andHEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC)." []	EFO:0004528	"The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell" []	207709	\N	\N	EFO	1	EFO	erythrocyte indices	mean corpuscular hemoglobin concentration
EFO:0005047	EFO:0004306	\N	"Is a quantification of some aspect of erythrocyte function, quanity, or composition." []	EFO:0004528	"The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell" []	560848	\N	\N	EFO	2	EFO	erythrocyte measurement	mean corpuscular hemoglobin concentration
EFO:0004503	EFO:0005047	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004528	"The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell" []	1142662	\N	\N	EFO	3	EFO	hematological measurement	mean corpuscular hemoglobin concentration
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004528	"The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell" []	2025454	\N	\N	EFO	4	EFO	measurement	mean corpuscular hemoglobin concentration
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004528	"The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell" []	3178133	\N	\N	EFO	5	EFO	information entity	mean corpuscular hemoglobin concentration
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004528	"The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell" []	4388078	\N	\N	EFO	6	EFO	experimental factor	mean corpuscular hemoglobin concentration
EFO:0004529	\N	\N	"A measure of circulating lipid" []	EFO:0004529	"A measure of circulating lipid" []	66456	\N	\N	EFO	0	EFO	lipid measurement	lipid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0004529	"A measure of circulating lipid" []	207710	\N	\N	EFO	1	EFO	lipid or lipoprotein measurement	lipid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004529	"A measure of circulating lipid" []	560849	\N	\N	EFO	2	EFO	measurement	lipid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004529	"A measure of circulating lipid" []	1142663	\N	\N	EFO	3	EFO	information entity	lipid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004529	"A measure of circulating lipid" []	2025455	\N	\N	EFO	4	EFO	experimental factor	lipid measurement
EFO:0004530	\N	\N	"A triglyceride  measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease." []	EFO:0004530	"A triglyceride  measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease." []	66457	\N	\N	EFO	0	EFO	triglyceride measurement	triglyceride measurement
EFO:0004529	EFO:0004530	\N	"A measure of circulating lipid" []	EFO:0004530	"A triglyceride  measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease." []	207711	\N	\N	EFO	1	EFO	lipid measurement	triglyceride measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0004530	"A triglyceride  measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease." []	560850	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	triglyceride measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004530	"A triglyceride  measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease." []	1142664	\N	\N	EFO	3	EFO	measurement	triglyceride measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004530	"A triglyceride  measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease." []	2025456	\N	\N	EFO	4	EFO	information entity	triglyceride measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004530	"A triglyceride  measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease." []	3178134	\N	\N	EFO	5	EFO	experimental factor	triglyceride measurement
EFO:0004531	\N	\N	"A urate measurement is the quantification of some urate in body fluid" []	EFO:0004531	"A urate measurement is the quantification of some urate in body fluid" []	66458	\N	\N	EFO	0	EFO	urate measurement	urate measurement
EFO:0001444	EFO:0004531	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004531	"A urate measurement is the quantification of some urate in body fluid" []	207712	\N	\N	EFO	1	EFO	measurement	urate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004531	"A urate measurement is the quantification of some urate in body fluid" []	560851	\N	\N	EFO	2	EFO	information entity	urate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004531	"A urate measurement is the quantification of some urate in body fluid" []	1142665	\N	\N	EFO	3	EFO	experimental factor	urate measurement
EFO:0004532	\N	\N	"Serum gamma-glutamyl transferase level measurement is the quantification of gamma-glutamyl transferase in blood. Gamma-glutamyl transferase is used as a marker for liver/bile duct problems and alcohol abuse." []	EFO:0004532	"Serum gamma-glutamyl transferase level measurement is the quantification of gamma-glutamyl transferase in blood. Gamma-glutamyl transferase is used as a marker for liver/bile duct problems and alcohol abuse." []	66459	\N	\N	EFO	0	EFO	serum gamma-glutamyl transferase measurement	serum gamma-glutamyl transferase measurement
EFO:0004582	EFO:0004532	\N	"A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." []	EFO:0004532	"Serum gamma-glutamyl transferase level measurement is the quantification of gamma-glutamyl transferase in blood. Gamma-glutamyl transferase is used as a marker for liver/bile duct problems and alcohol abuse." []	207713	\N	\N	EFO	1	EFO	liver enzyme measurement	serum gamma-glutamyl transferase measurement
EFO:0001444	EFO:0004582	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004532	"Serum gamma-glutamyl transferase level measurement is the quantification of gamma-glutamyl transferase in blood. Gamma-glutamyl transferase is used as a marker for liver/bile duct problems and alcohol abuse." []	560852	\N	\N	EFO	2	EFO	measurement	serum gamma-glutamyl transferase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004532	"Serum gamma-glutamyl transferase level measurement is the quantification of gamma-glutamyl transferase in blood. Gamma-glutamyl transferase is used as a marker for liver/bile duct problems and alcohol abuse." []	1142666	\N	\N	EFO	3	EFO	information entity	serum gamma-glutamyl transferase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004532	"Serum gamma-glutamyl transferase level measurement is the quantification of gamma-glutamyl transferase in blood. Gamma-glutamyl transferase is used as a marker for liver/bile duct problems and alcohol abuse." []	2025457	\N	\N	EFO	4	EFO	experimental factor	serum gamma-glutamyl transferase measurement
EFO:0004533	\N	\N	"Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease." []	EFO:0004533	"Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease." []	66460	\N	\N	EFO	0	EFO	alkaline phosphatase measurement	alkaline phosphatase measurement
EFO:0004512	EFO:0004533	\N	"" []	EFO:0004533	"Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease." []	207714	\N	\N	EFO	1	EFO	bone measurement	alkaline phosphatase measurement
EFO:0004582	EFO:0004533	\N	"A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." []	EFO:0004533	"Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease." []	207715	\N	\N	EFO	1	EFO	liver enzyme measurement	alkaline phosphatase measurement
EFO:0004747	EFO:0004533	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004533	"Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease." []	207716	\N	\N	EFO	1	EFO	protein measurement	alkaline phosphatase measurement
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004533	"Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease." []	560853	\N	\N	EFO	2	EFO	measurement	alkaline phosphatase measurement
EFO:0001444	EFO:0004582	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004533	"Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease." []	560854	\N	\N	EFO	2	EFO	measurement	alkaline phosphatase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004533	"Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease." []	560855	\N	\N	EFO	2	EFO	measurement	alkaline phosphatase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004533	"Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease." []	1142667	\N	\N	EFO	3	EFO	information entity	alkaline phosphatase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004533	"Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease." []	2025458	\N	\N	EFO	4	EFO	experimental factor	alkaline phosphatase measurement
EFO:0004534	\N	\N	"A creatine kinase measurement is a quantification of creatine kinase in blood. Creatine kinase is a marker for tissue damage and  is assayed in blood tests as a marker of myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and in acute renal failure." []	EFO:0004534	"A creatine kinase measurement is a quantification of creatine kinase in blood. Creatine kinase is a marker for tissue damage and  is assayed in blood tests as a marker of myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and in acute renal failure." []	66461	\N	\N	EFO	0	EFO	creatine kinase measurement	creatine kinase measurement
EFO:0004298	EFO:0004534	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004534	"A creatine kinase measurement is a quantification of creatine kinase in blood. Creatine kinase is a marker for tissue damage and  is assayed in blood tests as a marker of myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and in acute renal failure." []	207717	\N	\N	EFO	1	EFO	cardiovascular measurement	creatine kinase measurement
EFO:0004747	EFO:0004534	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004534	"A creatine kinase measurement is a quantification of creatine kinase in blood. Creatine kinase is a marker for tissue damage and  is assayed in blood tests as a marker of myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and in acute renal failure." []	207718	\N	\N	EFO	1	EFO	protein measurement	creatine kinase measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004534	"A creatine kinase measurement is a quantification of creatine kinase in blood. Creatine kinase is a marker for tissue damage and  is assayed in blood tests as a marker of myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and in acute renal failure." []	560856	\N	\N	EFO	2	EFO	measurement	creatine kinase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004534	"A creatine kinase measurement is a quantification of creatine kinase in blood. Creatine kinase is a marker for tissue damage and  is assayed in blood tests as a marker of myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and in acute renal failure." []	560857	\N	\N	EFO	2	EFO	measurement	creatine kinase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004534	"A creatine kinase measurement is a quantification of creatine kinase in blood. Creatine kinase is a marker for tissue damage and  is assayed in blood tests as a marker of myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and in acute renal failure." []	1142668	\N	\N	EFO	3	EFO	information entity	creatine kinase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004534	"A creatine kinase measurement is a quantification of creatine kinase in blood. Creatine kinase is a marker for tissue damage and  is assayed in blood tests as a marker of myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and in acute renal failure." []	2025459	\N	\N	EFO	4	EFO	experimental factor	creatine kinase measurement
EFO:0004535	\N	\N	"An albumin measurement is a quantification of albumin in blood. Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca2+, Na+, K+, fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc. Low levels of albumin in the blood may indicate liver disease." []	EFO:0004535	"An albumin measurement is a quantification of albumin in blood. Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca2+, Na+, K+, fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc. Low levels of albumin in the blood may indicate liver disease." []	66462	\N	\N	EFO	0	EFO	serum albumin measurement	serum albumin measurement
EFO:0004747	EFO:0004535	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004535	"An albumin measurement is a quantification of albumin in blood. Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca2+, Na+, K+, fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc. Low levels of albumin in the blood may indicate liver disease." []	207719	\N	\N	EFO	1	EFO	protein measurement	serum albumin measurement
EFO:0006845	EFO:0004535	\N	"The quantification of biomarkers used in the diagnosis or management of liver disease" []	EFO:0004535	"An albumin measurement is a quantification of albumin in blood. Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca2+, Na+, K+, fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc. Low levels of albumin in the blood may indicate liver disease." []	207720	\N	\N	EFO	1	EFO	liver disease biomarker	serum albumin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004535	"An albumin measurement is a quantification of albumin in blood. Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca2+, Na+, K+, fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc. Low levels of albumin in the blood may indicate liver disease." []	560858	\N	\N	EFO	2	EFO	measurement	serum albumin measurement
EFO:0001444	EFO:0006845	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004535	"An albumin measurement is a quantification of albumin in blood. Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca2+, Na+, K+, fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc. Low levels of albumin in the blood may indicate liver disease." []	560859	\N	\N	EFO	2	EFO	measurement	serum albumin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004535	"An albumin measurement is a quantification of albumin in blood. Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca2+, Na+, K+, fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc. Low levels of albumin in the blood may indicate liver disease." []	1142669	\N	\N	EFO	3	EFO	information entity	serum albumin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004535	"An albumin measurement is a quantification of albumin in blood. Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca2+, Na+, K+, fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc. Low levels of albumin in the blood may indicate liver disease." []	2025460	\N	\N	EFO	4	EFO	experimental factor	serum albumin measurement
EFO:0004536	\N	\N	"A total blood protein measurement is a quantification of protein in a blood sample. It is used as a marker for disease and nutrition. It is performed in the liquid portion of blood and typically measures albumin and globulin." []	EFO:0004536	"A total blood protein measurement is a quantification of protein in a blood sample. It is used as a marker for disease and nutrition. It is performed in the liquid portion of blood and typically measures albumin and globulin." []	66463	\N	\N	EFO	0	EFO	total blood protein measurement	total blood protein measurement
EFO:0004503	EFO:0004536	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004536	"A total blood protein measurement is a quantification of protein in a blood sample. It is used as a marker for disease and nutrition. It is performed in the liquid portion of blood and typically measures albumin and globulin." []	207721	\N	\N	EFO	1	EFO	hematological measurement	total blood protein measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004536	"A total blood protein measurement is a quantification of protein in a blood sample. It is used as a marker for disease and nutrition. It is performed in the liquid portion of blood and typically measures albumin and globulin." []	560860	\N	\N	EFO	2	EFO	measurement	total blood protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004536	"A total blood protein measurement is a quantification of protein in a blood sample. It is used as a marker for disease and nutrition. It is performed in the liquid portion of blood and typically measures albumin and globulin." []	1142670	\N	\N	EFO	3	EFO	information entity	total blood protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004536	"A total blood protein measurement is a quantification of protein in a blood sample. It is used as a marker for disease and nutrition. It is performed in the liquid portion of blood and typically measures albumin and globulin." []	2025461	\N	\N	EFO	4	EFO	experimental factor	total blood protein measurement
EFO:0004537	\N	\N	"A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." []	EFO:0004537	"A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." []	66464	\N	\N	EFO	0	EFO	neonatal systemic lupus erthematosus	neonatal systemic lupus erthematosus
EFO:0002690	EFO:0004537	\N	"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []	EFO:0004537	"A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." []	207722	\N	\N	EFO	1	EFO	systemic lupus erythematosus	neonatal systemic lupus erthematosus
EFO:0005140	EFO:0002690	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0004537	"A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." []	560861	\N	\N	EFO	2	EFO	autoimmune disease	neonatal systemic lupus erthematosus
EFO:0005755	EFO:0002690	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0004537	"A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." []	560862	\N	\N	EFO	2	EFO	rheumatic disease	neonatal systemic lupus erthematosus
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004537	"A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." []	1142671	\N	\N	EFO	3	EFO	immune system disease	neonatal systemic lupus erthematosus
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0004537	"A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." []	1142672	\N	\N	EFO	3	EFO	skeletal system disease	neonatal systemic lupus erthematosus
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004537	"A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." []	2025462	\N	\N	EFO	4	EFO	disease	neonatal systemic lupus erthematosus
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004537	"A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." []	2025463	\N	\N	EFO	4	EFO	disease	neonatal systemic lupus erthematosus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004537	"A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." []	3178135	\N	\N	EFO	5	EFO	disposition	neonatal systemic lupus erthematosus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004537	"A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." []	4388079	\N	\N	EFO	6	EFO	material property	neonatal systemic lupus erthematosus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004537	"A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." []	5408747	\N	\N	EFO	7	EFO	experimental factor	neonatal systemic lupus erthematosus
EFO:0004540	\N	\N	"A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" []	EFO:0004540	"A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" []	66465	\N	\N	EFO	0	EFO	chronic fatigue syndrome	chronic fatigue syndrome
EFO:0000677	EFO:0004540	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004540	"A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" []	207723	\N	\N	EFO	1	EFO	mental or behavioural disorder	chronic fatigue syndrome
EFO:0002970	EFO:0004540	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:0004540	"A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" []	207724	\N	\N	EFO	1	EFO	muscular disease	chronic fatigue syndrome
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004540	"A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" []	560863	\N	\N	EFO	2	EFO	brain disease	chronic fatigue syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:0004540	"A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" []	560864	\N	\N	EFO	2	EFO	skeletal system disease	chronic fatigue syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004540	"A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" []	1142673	\N	\N	EFO	3	EFO	nervous system disease	chronic fatigue syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004540	"A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" []	1142674	\N	\N	EFO	3	EFO	disease	chronic fatigue syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004540	"A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" []	2025464	\N	\N	EFO	4	EFO	disease	chronic fatigue syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004540	"A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" []	3178136	\N	\N	EFO	5	EFO	disposition	chronic fatigue syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004540	"A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" []	4132660	\N	\N	EFO	6	EFO	material property	chronic fatigue syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004540	"A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)" []	5180981	\N	\N	EFO	7	EFO	experimental factor	chronic fatigue syndrome
EFO:0004541	\N	\N	"An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months." []	EFO:0004541	"An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months." []	66466	\N	\N	EFO	0	EFO	A1C measurement	A1C measurement
EFO:0004468	EFO:0004541	\N	"Is any quantification of glucose." []	EFO:0004541	"An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months." []	207725	\N	\N	EFO	1	EFO	glucose measurement	A1C measurement
EFO:0004555	EFO:0004541	\N	"Is the quantification of some glycoprotein." []	EFO:0004541	"An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months." []	207726	\N	\N	EFO	1	EFO	glycoprotein measurement	A1C measurement
EFO:0006842	EFO:0004468	\N	"" []	EFO:0004541	"An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months." []	560865	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	A1C measurement
EFO:0004747	EFO:0004555	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004541	"An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months." []	560866	\N	\N	EFO	2	EFO	protein measurement	A1C measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004541	"An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months." []	1142675	\N	\N	EFO	3	EFO	measurement	A1C measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004541	"An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months." []	1142676	\N	\N	EFO	3	EFO	measurement	A1C measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004541	"An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months." []	2025466	\N	\N	EFO	4	EFO	information entity	A1C measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004541	"An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months." []	3178138	\N	\N	EFO	5	EFO	experimental factor	A1C measurement
EFO:0004542	\N	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004542	"A processual entity that realizes a plan which is the concretization of a plan specification." []	66467	\N	\N	EFO	0	EFO	planned process	planned process
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004542	"A processual entity that realizes a plan which is the concretization of a plan specification." []	207727	\N	\N	EFO	1	EFO	process	planned process
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004542	"A processual entity that realizes a plan which is the concretization of a plan specification." []	560867	\N	\N	EFO	2	EFO	experimental factor	planned process
EFO:0004550	\N	\N	"Is the quantification of amygdala response to stimulus using MRI. The amygdala is implicated in many mental and behavioual disorders." []	EFO:0004550	"Is the quantification of amygdala response to stimulus using MRI. The amygdala is implicated in many mental and behavioual disorders." []	66468	\N	\N	EFO	0	EFO	amygdala reactivity measurement	amygdala reactivity measurement
EFO:0006848	EFO:0004550	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0004550	"Is the quantification of amygdala response to stimulus using MRI. The amygdala is implicated in many mental and behavioual disorders." []	207728	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	amygdala reactivity measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004550	"Is the quantification of amygdala response to stimulus using MRI. The amygdala is implicated in many mental and behavioual disorders." []	560868	\N	\N	EFO	2	EFO	measurement	amygdala reactivity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004550	"Is the quantification of amygdala response to stimulus using MRI. The amygdala is implicated in many mental and behavioual disorders." []	1142677	\N	\N	EFO	3	EFO	information entity	amygdala reactivity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004550	"Is the quantification of amygdala response to stimulus using MRI. The amygdala is implicated in many mental and behavioual disorders." []	2025467	\N	\N	EFO	4	EFO	experimental factor	amygdala reactivity measurement
EFO:0004554	\N	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0004554	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	66469	\N	\N	EFO	0	EFO	genomic measurement	genomic measurement
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004554	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	207729	\N	\N	EFO	1	EFO	measurement	genomic measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004554	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	560869	\N	\N	EFO	2	EFO	information entity	genomic measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004554	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	1142678	\N	\N	EFO	3	EFO	experimental factor	genomic measurement
EFO:0004555	\N	\N	"Is the quantification of some glycoprotein." []	EFO:0004555	"Is the quantification of some glycoprotein." []	66470	\N	\N	EFO	0	EFO	glycoprotein measurement	glycoprotein measurement
EFO:0004747	EFO:0004555	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004555	"Is the quantification of some glycoprotein." []	207730	\N	\N	EFO	1	EFO	protein measurement	glycoprotein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004555	"Is the quantification of some glycoprotein." []	560870	\N	\N	EFO	2	EFO	measurement	glycoprotein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004555	"Is the quantification of some glycoprotein." []	1142679	\N	\N	EFO	3	EFO	information entity	glycoprotein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004555	"Is the quantification of some glycoprotein." []	2025468	\N	\N	EFO	4	EFO	experimental factor	glycoprotein measurement
EFO:0004556	\N	\N	"Is the quantification of some antibody" []	EFO:0004556	"Is the quantification of some antibody" []	66471	\N	\N	EFO	0	EFO	antibody measurement	antibody measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004556	"Is the quantification of some antibody" []	207731	\N	\N	EFO	1	EFO	measurement	antibody measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004556	"Is the quantification of some antibody" []	560871	\N	\N	EFO	2	EFO	information entity	antibody measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004556	"Is the quantification of some antibody" []	1142680	\N	\N	EFO	3	EFO	experimental factor	antibody measurement
EFO:0004557	\N	\N	"Is the quantification of some measureable quality of a population e.g. birth rate." []	EFO:0004557	"Is the quantification of some measureable quality of a population e.g. birth rate." []	66472	\N	\N	EFO	0	EFO	population measurement	population measurement
EFO:0001444	EFO:0004557	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004557	"Is the quantification of some measureable quality of a population e.g. birth rate." []	207732	\N	\N	EFO	1	EFO	measurement	population measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004557	"Is the quantification of some measureable quality of a population e.g. birth rate." []	560872	\N	\N	EFO	2	EFO	information entity	population measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004557	"Is the quantification of some measureable quality of a population e.g. birth rate." []	1142681	\N	\N	EFO	3	EFO	experimental factor	population measurement
EFO:0004561	\N	\N	"Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity." []	EFO:0004561	"Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity." []	66473	\N	\N	EFO	0	EFO	African	African
EFO:0001799	EFO:0004561	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0004561	"Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity." []	207733	\N	\N	EFO	1	EFO	ethnic group	African
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0004561	"Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity." []	560873	\N	\N	EFO	2	EFO	population	African
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004561	"Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity." []	1142682	\N	\N	EFO	3	EFO	material entity	African
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004561	"Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity." []	2025469	\N	\N	EFO	4	EFO	experimental factor	African
EFO:0004562	\N	\N	"Cryptorchidism (derived from the Greek ???????, kryptos, meaning hidden and ?????, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle." []	EFO:0004562	"Cryptorchidism (derived from the Greek ???????, kryptos, meaning hidden and ?????, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle." []	66474	\N	\N	EFO	0	EFO	cryptorchidism	cryptorchidism
EFO:0000512	EFO:0004562	\N	"any diease of the reproductive system" []	EFO:0004562	"Cryptorchidism (derived from the Greek ???????, kryptos, meaning hidden and ?????, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle." []	207734	\N	\N	EFO	1	EFO	reproductive system disease	cryptorchidism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004562	"Cryptorchidism (derived from the Greek ???????, kryptos, meaning hidden and ?????, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle." []	560874	\N	\N	EFO	2	EFO	disease	cryptorchidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004562	"Cryptorchidism (derived from the Greek ???????, kryptos, meaning hidden and ?????, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle." []	1142683	\N	\N	EFO	3	EFO	disposition	cryptorchidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004562	"Cryptorchidism (derived from the Greek ???????, kryptos, meaning hidden and ?????, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle." []	2025470	\N	\N	EFO	4	EFO	material property	cryptorchidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004562	"Cryptorchidism (derived from the Greek ???????, kryptos, meaning hidden and ?????, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle." []	3178139	\N	\N	EFO	5	EFO	experimental factor	cryptorchidism
EFO:0004563	\N	\N	"A Saccharomyces cerevisiae commercially available strain used in pseudohyphal growth studies.\\nGranek and Magwene, PLoS Genet. 2010 Jan 22;6(1):e1000823, established that certain lineages of the Sigma1278B background contain a nonsense mutation in RIM15, a G-to-T transversion at position 1216 that converts a Gly codon to an opal stop codon. This rim15 mutation interacts epistatically with mutations in certain other genes to affect colony morphology." []	EFO:0004563	"A Saccharomyces cerevisiae commercially available strain used in pseudohyphal growth studies.\\nGranek and Magwene, PLoS Genet. 2010 Jan 22;6(1):e1000823, established that certain lineages of the Sigma1278B background contain a nonsense mutation in RIM15, a G-to-T transversion at position 1216 that converts a Gly codon to an opal stop codon. This rim15 mutation interacts epistatically with mutations in certain other genes to affect colony morphology." []	66475	\N	\N	EFO	0	EFO	Sigma 1278b	Sigma 1278b
NCBITaxon:4932	\N	\N	"" []	EFO:0004563	"A Saccharomyces cerevisiae commercially available strain used in pseudohyphal growth studies.\\nGranek and Magwene, PLoS Genet. 2010 Jan 22;6(1):e1000823, established that certain lineages of the Sigma1278B background contain a nonsense mutation in RIM15, a G-to-T transversion at position 1216 that converts a Gly codon to an opal stop codon. This rim15 mutation interacts epistatically with mutations in certain other genes to affect colony morphology." []	194670	\N	\N	EFO	0	EFO	Saccharomyces cerevisiae	Sigma 1278b
EFO:0004565	\N	\N	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	EFO:0004565	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	66476	\N	\N	EFO	0	EFO	serum IgG measurement	serum IgG measurement
EFO:0004556	EFO:0004565	\N	"Is the quantification of some antibody" []	EFO:0004565	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	207735	\N	\N	EFO	1	EFO	antibody measurement	serum IgG measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004565	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	560875	\N	\N	EFO	2	EFO	measurement	serum IgG measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004565	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	1142684	\N	\N	EFO	3	EFO	information entity	serum IgG measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004565	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	2025471	\N	\N	EFO	4	EFO	experimental factor	serum IgG measurement
EFO:0004566	\N	\N	"The process of increasing the mass of an organism over time." []	EFO:0004566	"The process of increasing the mass of an organism over time." []	66477	\N	\N	EFO	0	EFO	body weight gain	body weight gain
HP:0004323	\N	\N	"An abnormal increase or decrease of weight or an abnormal distribution of mass in the body." [HPO:probinson]	EFO:0004566	"The process of increasing the mass of an organism over time." []	194671	\N	\N	EFO	0	EFO	Abnormality of body weight	body weight gain
EFO:0004567	\N	\N	"The process of increasing body mass during treatment with an antipsychotic drug. http://ajp.psychiatryonline.org/article.aspx?articleid=173781" []	EFO:0004567	"The process of increasing body mass during treatment with an antipsychotic drug. http://ajp.psychiatryonline.org/article.aspx?articleid=173781" []	66478	\N	\N	EFO	0	EFO	antipsychotic drug related weight gain	antipsychotic drug related weight gain
EFO:0004566	EFO:0004567	\N	"The process of increasing the mass of an organism over time." []	EFO:0004567	"The process of increasing body mass during treatment with an antipsychotic drug. http://ajp.psychiatryonline.org/article.aspx?articleid=173781" []	207736	\N	\N	EFO	1	EFO	body weight gain	antipsychotic drug related weight gain
EFO:0004568	\N	\N	"The measurement of the non-albumin portion of blood protein (globulin) in serum" []	EFO:0004568	"The measurement of the non-albumin portion of blood protein (globulin) in serum" []	66479	\N	\N	EFO	0	EFO	serum non-albumin protein measurement	serum non-albumin protein measurement
EFO:0004747	EFO:0004568	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004568	"The measurement of the non-albumin portion of blood protein (globulin) in serum" []	207737	\N	\N	EFO	1	EFO	protein measurement	serum non-albumin protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004568	"The measurement of the non-albumin portion of blood protein (globulin) in serum" []	560876	\N	\N	EFO	2	EFO	measurement	serum non-albumin protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004568	"The measurement of the non-albumin portion of blood protein (globulin) in serum" []	1142685	\N	\N	EFO	3	EFO	information entity	serum non-albumin protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004568	"The measurement of the non-albumin portion of blood protein (globulin) in serum" []	2025472	\N	\N	EFO	4	EFO	experimental factor	serum non-albumin protein measurement
EFO:0004569	\N	\N	"A serotonin transported measurement is the quantification of serotonin transporter. Serotonin transporter regulates the levels of extracellular serotonin. The 5-HTT levels in brain can be measured using PET." []	EFO:0004569	"A serotonin transported measurement is the quantification of serotonin transporter. Serotonin transporter regulates the levels of extracellular serotonin. The 5-HTT levels in brain can be measured using PET." []	66480	\N	\N	EFO	0	EFO	brain serotonin transporter measurement	brain serotonin transporter measurement
EFO:0006848	EFO:0004569	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0004569	"A serotonin transported measurement is the quantification of serotonin transporter. Serotonin transporter regulates the levels of extracellular serotonin. The 5-HTT levels in brain can be measured using PET." []	207738	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	brain serotonin transporter measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004569	"A serotonin transported measurement is the quantification of serotonin transporter. Serotonin transporter regulates the levels of extracellular serotonin. The 5-HTT levels in brain can be measured using PET." []	560877	\N	\N	EFO	2	EFO	measurement	brain serotonin transporter measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004569	"A serotonin transported measurement is the quantification of serotonin transporter. Serotonin transporter regulates the levels of extracellular serotonin. The 5-HTT levels in brain can be measured using PET." []	1142686	\N	\N	EFO	3	EFO	information entity	brain serotonin transporter measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004569	"A serotonin transported measurement is the quantification of serotonin transporter. Serotonin transporter regulates the levels of extracellular serotonin. The 5-HTT levels in brain can be measured using PET." []	2025473	\N	\N	EFO	4	EFO	experimental factor	brain serotonin transporter measurement
EFO:0004570	\N	\N	"A bilirubin measurement is a quantification of bilirubin typically measured in serum." []	EFO:0004570	"A bilirubin measurement is a quantification of bilirubin typically measured in serum." []	66481	\N	\N	EFO	0	EFO	bilirubin measurement	bilirubin measurement
EFO:0006845	EFO:0004570	\N	"The quantification of biomarkers used in the diagnosis or management of liver disease" []	EFO:0004570	"A bilirubin measurement is a quantification of bilirubin typically measured in serum." []	207739	\N	\N	EFO	1	EFO	liver disease biomarker	bilirubin measurement
EFO:0001444	EFO:0006845	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004570	"A bilirubin measurement is a quantification of bilirubin typically measured in serum." []	560878	\N	\N	EFO	2	EFO	measurement	bilirubin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004570	"A bilirubin measurement is a quantification of bilirubin typically measured in serum." []	1142687	\N	\N	EFO	3	EFO	information entity	bilirubin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004570	"A bilirubin measurement is a quantification of bilirubin typically measured in serum." []	2025474	\N	\N	EFO	4	EFO	experimental factor	bilirubin measurement
EFO:0004571	\N	\N	"A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans." []	EFO:0004571	"A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans." []	66482	\N	\N	EFO	0	EFO	butyrylcholinesterase measurement	butyrylcholinesterase measurement
EFO:0004582	EFO:0004571	\N	"A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." []	EFO:0004571	"A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans." []	207740	\N	\N	EFO	1	EFO	liver enzyme measurement	butyrylcholinesterase measurement
EFO:0004747	EFO:0004571	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004571	"A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans." []	207741	\N	\N	EFO	1	EFO	protein measurement	butyrylcholinesterase measurement
EFO:0001444	EFO:0004582	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004571	"A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans." []	560879	\N	\N	EFO	2	EFO	measurement	butyrylcholinesterase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004571	"A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans." []	560880	\N	\N	EFO	2	EFO	measurement	butyrylcholinesterase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004571	"A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans." []	1142688	\N	\N	EFO	3	EFO	information entity	butyrylcholinesterase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004571	"A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans." []	2025475	\N	\N	EFO	4	EFO	experimental factor	butyrylcholinesterase measurement
EFO:0004572	\N	\N	"A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion).\\nBuil et al, 2010 propose that C4BP may be a susceptibility locus for venous thrombosis based on GWAS and gene expression studies. " []	EFO:0004572	"A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion).\\nBuil et al, 2010 propose that C4BP may be a susceptibility locus for venous thrombosis based on GWAS and gene expression studies. " []	66483	\N	\N	EFO	0	EFO	C4BP measurement	C4BP measurement
EFO:0004555	EFO:0004572	\N	"Is the quantification of some glycoprotein." []	EFO:0004572	"A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion).\\nBuil et al, 2010 propose that C4BP may be a susceptibility locus for venous thrombosis based on GWAS and gene expression studies. " []	207742	\N	\N	EFO	1	EFO	glycoprotein measurement	C4BP measurement
EFO:0005278	EFO:0004572	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004572	"A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion).\\nBuil et al, 2010 propose that C4BP may be a susceptibility locus for venous thrombosis based on GWAS and gene expression studies. " []	207743	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	C4BP measurement
EFO:0004747	EFO:0004555	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004572	"A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion).\\nBuil et al, 2010 propose that C4BP may be a susceptibility locus for venous thrombosis based on GWAS and gene expression studies. " []	560881	\N	\N	EFO	2	EFO	protein measurement	C4BP measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004572	"A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion).\\nBuil et al, 2010 propose that C4BP may be a susceptibility locus for venous thrombosis based on GWAS and gene expression studies. " []	560882	\N	\N	EFO	2	EFO	cardiovascular measurement	C4BP measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004572	"A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion).\\nBuil et al, 2010 propose that C4BP may be a susceptibility locus for venous thrombosis based on GWAS and gene expression studies. " []	1142689	\N	\N	EFO	3	EFO	measurement	C4BP measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004572	"A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion).\\nBuil et al, 2010 propose that C4BP may be a susceptibility locus for venous thrombosis based on GWAS and gene expression studies. " []	1142690	\N	\N	EFO	3	EFO	measurement	C4BP measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004572	"A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion).\\nBuil et al, 2010 propose that C4BP may be a susceptibility locus for venous thrombosis based on GWAS and gene expression studies. " []	2025476	\N	\N	EFO	4	EFO	information entity	C4BP measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004572	"A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion).\\nBuil et al, 2010 propose that C4BP may be a susceptibility locus for venous thrombosis based on GWAS and gene expression studies. " []	3178140	\N	\N	EFO	5	EFO	experimental factor	C4BP measurement
EFO:0004573	\N	\N	"A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880)" []	EFO:0004573	"A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880)" []	66484	\N	\N	EFO	0	EFO	chemerin measurement	chemerin measurement
EFO:0004730	EFO:0004573	\N	"" []	EFO:0004573	"A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880)" []	207744	\N	\N	EFO	1	EFO	hormone measurement	chemerin measurement
EFO:0005278	EFO:0004573	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004573	"A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880)" []	207745	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	chemerin measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004573	"A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880)" []	560883	\N	\N	EFO	2	EFO	measurement	chemerin measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004573	"A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880)" []	560884	\N	\N	EFO	2	EFO	cardiovascular measurement	chemerin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004573	"A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880)" []	2025478	\N	\N	EFO	4	EFO	information entity	chemerin measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004573	"A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880)" []	1142692	\N	\N	EFO	3	EFO	measurement	chemerin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004573	"A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880)" []	2999580	\N	\N	EFO	5	EFO	experimental factor	chemerin measurement
EFO:0004574	\N	\N	"A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL." []	EFO:0004574	"A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL." []	66485	\N	\N	EFO	0	EFO	total cholesterol measurement	total cholesterol measurement
EFO:0004732	EFO:0004574	\N	"Is the quantification of some lipoprotein" []	EFO:0004574	"A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL." []	207746	\N	\N	EFO	1	EFO	lipoprotein measurement	total cholesterol measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004574	"A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL." []	560885	\N	\N	EFO	2	EFO	protein measurement	total cholesterol measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0004574	"A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL." []	560886	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	total cholesterol measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004574	"A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL." []	1142693	\N	\N	EFO	3	EFO	measurement	total cholesterol measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004574	"A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL." []	1142694	\N	\N	EFO	3	EFO	measurement	total cholesterol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004574	"A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL." []	2025479	\N	\N	EFO	4	EFO	information entity	total cholesterol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004574	"A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL." []	3178141	\N	\N	EFO	5	EFO	experimental factor	total cholesterol measurement
EFO:0004575	\N	\N	"An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." []	EFO:0004575	"An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." []	66486	\N	\N	EFO	0	EFO	e-selectin measurement	e-selectin measurement
EFO:0004522	EFO:0004575	\N	"A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events." []	EFO:0004575	"An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." []	207747	\N	\N	EFO	1	EFO	adhesion molecule measurement	e-selectin measurement
EFO:0004747	EFO:0004575	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004575	"An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." []	207748	\N	\N	EFO	1	EFO	protein measurement	e-selectin measurement
EFO:0004872	EFO:0004575	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004575	"An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." []	207749	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	e-selectin measurement
EFO:0005127	EFO:0004575	\N	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	EFO:0004575	"An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." []	207750	\N	\N	EFO	1	EFO	cancer biomarker measurement	e-selectin measurement
EFO:0001444	EFO:0004522	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004575	"An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." []	560887	\N	\N	EFO	2	EFO	measurement	e-selectin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004575	"An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." []	560888	\N	\N	EFO	2	EFO	measurement	e-selectin measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004575	"An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." []	560889	\N	\N	EFO	2	EFO	measurement	e-selectin measurement
EFO:0001444	EFO:0005127	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004575	"An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." []	560890	\N	\N	EFO	2	EFO	measurement	e-selectin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004575	"An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." []	1142695	\N	\N	EFO	3	EFO	information entity	e-selectin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004575	"An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker." []	2025480	\N	\N	EFO	4	EFO	experimental factor	e-selectin measurement
EFO:0004576	\N	\N	"A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease." []	EFO:0004576	"A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease." []	66487	\N	\N	EFO	0	EFO	fetal hemoglobin measurement	fetal hemoglobin measurement
EFO:0004509	EFO:0004576	\N	"Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia." []	EFO:0004576	"A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease." []	207751	\N	\N	EFO	1	EFO	hemoglobin measurement	fetal hemoglobin measurement
EFO:0004503	EFO:0004509	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004576	"A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease." []	560891	\N	\N	EFO	2	EFO	hematological measurement	fetal hemoglobin measurement
EFO:0004747	EFO:0004509	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004576	"A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease." []	560892	\N	\N	EFO	2	EFO	protein measurement	fetal hemoglobin measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004576	"A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease." []	1142696	\N	\N	EFO	3	EFO	measurement	fetal hemoglobin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004576	"A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease." []	1142697	\N	\N	EFO	3	EFO	measurement	fetal hemoglobin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004576	"A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease." []	2025481	\N	\N	EFO	4	EFO	information entity	fetal hemoglobin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004576	"A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease." []	3178142	\N	\N	EFO	5	EFO	experimental factor	fetal hemoglobin measurement
EFO:0004577	\N	\N	"The infant head circumference is the measurement of the diameter of the head and is a routine measure made during human development as a broad indicator of child development. It can be used as a proxy for brain development" []	EFO:0004577	"The infant head circumference is the measurement of the diameter of the head and is a routine measure made during human development as a broad indicator of child development. It can be used as a proxy for brain development" []	66488	\N	\N	EFO	0	EFO	infant head circumference	infant head circumference
EFO:0005114	EFO:0004577	\N	"A circumferential measurement of the head at the widest point, which is traditionally above the eyebrow" []	EFO:0004577	"The infant head circumference is the measurement of the diameter of the head and is a routine measure made during human development as a broad indicator of child development. It can be used as a proxy for brain development" []	207752	\N	\N	EFO	1	EFO	head circumference	infant head circumference
EFO:0004324	EFO:0005114	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004577	"The infant head circumference is the measurement of the diameter of the head and is a routine measure made during human development as a broad indicator of child development. It can be used as a proxy for brain development" []	560893	\N	\N	EFO	2	EFO	body weights and measures	infant head circumference
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004577	"The infant head circumference is the measurement of the diameter of the head and is a routine measure made during human development as a broad indicator of child development. It can be used as a proxy for brain development" []	1142698	\N	\N	EFO	3	EFO	anthropometric measurement	infant head circumference
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004577	"The infant head circumference is the measurement of the diameter of the head and is a routine measure made during human development as a broad indicator of child development. It can be used as a proxy for brain development" []	2025482	\N	\N	EFO	4	EFO	measurement	infant head circumference
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004577	"The infant head circumference is the measurement of the diameter of the head and is a routine measure made during human development as a broad indicator of child development. It can be used as a proxy for brain development" []	3178143	\N	\N	EFO	5	EFO	information entity	infant head circumference
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004577	"The infant head circumference is the measurement of the diameter of the head and is a routine measure made during human development as a broad indicator of child development. It can be used as a proxy for brain development" []	4388081	\N	\N	EFO	6	EFO	experimental factor	infant head circumference
EFO:0004578	\N	\N	"A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of  B12 and/or folate deficiency, and as part of a cardiac risk assessment." []	EFO:0004578	"A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of  B12 and/or folate deficiency, and as part of a cardiac risk assessment." []	66489	\N	\N	EFO	0	EFO	homocysteine measurement	homocysteine measurement
EFO:0004298	EFO:0004578	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004578	"A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of  B12 and/or folate deficiency, and as part of a cardiac risk assessment." []	207753	\N	\N	EFO	1	EFO	cardiovascular measurement	homocysteine measurement
EFO:0005134	EFO:0004578	\N	"quantification of some amino acid in a biological assay" []	EFO:0004578	"A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of  B12 and/or folate deficiency, and as part of a cardiac risk assessment." []	207754	\N	\N	EFO	1	EFO	amino acid measurement	homocysteine measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004578	"A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of  B12 and/or folate deficiency, and as part of a cardiac risk assessment." []	560894	\N	\N	EFO	2	EFO	measurement	homocysteine measurement
EFO:0001444	EFO:0005134	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004578	"A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of  B12 and/or folate deficiency, and as part of a cardiac risk assessment." []	560895	\N	\N	EFO	2	EFO	measurement	homocysteine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004578	"A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of  B12 and/or folate deficiency, and as part of a cardiac risk assessment." []	1142699	\N	\N	EFO	3	EFO	information entity	homocysteine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004578	"A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of  B12 and/or folate deficiency, and as part of a cardiac risk assessment." []	2025483	\N	\N	EFO	4	EFO	experimental factor	homocysteine measurement
EFO:0004579	\N	\N	"A serum immunoglobulin E measurement is the measurement of the IgE antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum. IgE's main function is immunity to parasites such as parasitic worms and it plays an essential role in the allergy disorder, and is especially associated with type I hypersensitivity." []	EFO:0004579	"A serum immunoglobulin E measurement is the measurement of the IgE antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum. IgE's main function is immunity to parasites such as parasitic worms and it plays an essential role in the allergy disorder, and is especially associated with type I hypersensitivity." []	66490	\N	\N	EFO	0	EFO	serum IgE measurement	serum IgE measurement
EFO:0004556	EFO:0004579	\N	"Is the quantification of some antibody" []	EFO:0004579	"A serum immunoglobulin E measurement is the measurement of the IgE antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum. IgE's main function is immunity to parasites such as parasitic worms and it plays an essential role in the allergy disorder, and is especially associated with type I hypersensitivity." []	207755	\N	\N	EFO	1	EFO	antibody measurement	serum IgE measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004579	"A serum immunoglobulin E measurement is the measurement of the IgE antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum. IgE's main function is immunity to parasites such as parasitic worms and it plays an essential role in the allergy disorder, and is especially associated with type I hypersensitivity." []	560896	\N	\N	EFO	2	EFO	measurement	serum IgE measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004579	"A serum immunoglobulin E measurement is the measurement of the IgE antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum. IgE's main function is immunity to parasites such as parasitic worms and it plays an essential role in the allergy disorder, and is especially associated with type I hypersensitivity." []	1142700	\N	\N	EFO	3	EFO	information entity	serum IgE measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004579	"A serum immunoglobulin E measurement is the measurement of the IgE antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum. IgE's main function is immunity to parasites such as parasitic worms and it plays an essential role in the allergy disorder, and is especially associated with type I hypersensitivity." []	2025484	\N	\N	EFO	4	EFO	experimental factor	serum IgE measurement
EFO:0004580	\N	\N	"Interleukin-18 (IL18, also known as interferon-gamma inducing factor) is a protein which in humans is encoded by the IL18 gene.[1][2] The protein encoded by this gene is a proinflammatory cytokine." []	EFO:0004580	"Interleukin-18 (IL18, also known as interferon-gamma inducing factor) is a protein which in humans is encoded by the IL18 gene.[1][2] The protein encoded by this gene is a proinflammatory cytokine." []	66491	\N	\N	EFO	0	EFO	interleukin 18 (Homo sapiens)	interleukin 18 (Homo sapiens)
EFO:0004100	EFO:0004580	\N	"An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses." []	EFO:0004580	"Interleukin-18 (IL18, also known as interferon-gamma inducing factor) is a protein which in humans is encoded by the IL18 gene.[1][2] The protein encoded by this gene is a proinflammatory cytokine." []	207756	\N	\N	EFO	1	EFO	interleukin	interleukin 18 (Homo sapiens)
EFO:0003786	EFO:0004100	\N	"" []	EFO:0004580	"Interleukin-18 (IL18, also known as interferon-gamma inducing factor) is a protein which in humans is encoded by the IL18 gene.[1][2] The protein encoded by this gene is a proinflammatory cytokine." []	560897	\N	\N	EFO	2	EFO	cytokine	interleukin 18 (Homo sapiens)
CHEBI:36080	EFO:0003786	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0004580	"Interleukin-18 (IL18, also known as interferon-gamma inducing factor) is a protein which in humans is encoded by the IL18 gene.[1][2] The protein encoded by this gene is a proinflammatory cytokine." []	1142701	\N	\N	EFO	3	EFO	protein	interleukin 18 (Homo sapiens)
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0004580	"Interleukin-18 (IL18, also known as interferon-gamma inducing factor) is a protein which in humans is encoded by the IL18 gene.[1][2] The protein encoded by this gene is a proinflammatory cytokine." []	2025485	\N	\N	EFO	4	EFO	chemical compound	interleukin 18 (Homo sapiens)
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0004580	"Interleukin-18 (IL18, also known as interferon-gamma inducing factor) is a protein which in humans is encoded by the IL18 gene.[1][2] The protein encoded by this gene is a proinflammatory cytokine." []	3178144	\N	\N	EFO	5	EFO	chemical entity	interleukin 18 (Homo sapiens)
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004580	"Interleukin-18 (IL18, also known as interferon-gamma inducing factor) is a protein which in humans is encoded by the IL18 gene.[1][2] The protein encoded by this gene is a proinflammatory cytokine." []	4388082	\N	\N	EFO	6	EFO	material entity	interleukin 18 (Homo sapiens)
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004580	"Interleukin-18 (IL18, also known as interferon-gamma inducing factor) is a protein which in humans is encoded by the IL18 gene.[1][2] The protein encoded by this gene is a proinflammatory cytokine." []	5408748	\N	\N	EFO	7	EFO	experimental factor	interleukin 18 (Homo sapiens)
EFO:0004581	\N	\N	"An IL-18 measurement is the quantification of IL-18, typically in blood." []	EFO:0004581	"An IL-18 measurement is the quantification of IL-18, typically in blood." []	66492	\N	\N	EFO	0	EFO	interleukin 18 measurement	interleukin 18 measurement
EFO:0004872	EFO:0004581	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004581	"An IL-18 measurement is the quantification of IL-18, typically in blood." []	207757	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	interleukin 18 measurement
EFO:0004873	EFO:0004581	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004581	"An IL-18 measurement is the quantification of IL-18, typically in blood." []	207758	\N	\N	EFO	1	EFO	cytokine measurement	interleukin 18 measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004581	"An IL-18 measurement is the quantification of IL-18, typically in blood." []	560898	\N	\N	EFO	2	EFO	measurement	interleukin 18 measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004581	"An IL-18 measurement is the quantification of IL-18, typically in blood." []	560899	\N	\N	EFO	2	EFO	protein measurement	interleukin 18 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004581	"An IL-18 measurement is the quantification of IL-18, typically in blood." []	2025487	\N	\N	EFO	4	EFO	information entity	interleukin 18 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004581	"An IL-18 measurement is the quantification of IL-18, typically in blood." []	1142703	\N	\N	EFO	3	EFO	measurement	interleukin 18 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004581	"An IL-18 measurement is the quantification of IL-18, typically in blood." []	2999581	\N	\N	EFO	5	EFO	experimental factor	interleukin 18 measurement
EFO:0004582	\N	\N	"A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." []	EFO:0004582	"A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." []	66493	\N	\N	EFO	0	EFO	liver enzyme measurement	liver enzyme measurement
EFO:0001444	EFO:0004582	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004582	"A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." []	207759	\N	\N	EFO	1	EFO	measurement	liver enzyme measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004582	"A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." []	560900	\N	\N	EFO	2	EFO	information entity	liver enzyme measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004582	"A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." []	1142704	\N	\N	EFO	3	EFO	experimental factor	liver enzyme measurement
EFO:0004584	\N	\N	"A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood" []	EFO:0004584	"A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood" []	66494	\N	\N	EFO	0	EFO	mean platelet volume	mean platelet volume
EFO:0005036	EFO:0004584	\N	"A measurement quantifying some platelet" []	EFO:0004584	"A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood" []	207760	\N	\N	EFO	1	EFO	platelet measurement	mean platelet volume
EFO:0006846	EFO:0004584	\N	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	EFO:0004584	"A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood" []	207761	\N	\N	EFO	1	EFO	autoimmune disease biomarker	mean platelet volume
EFO:0004503	EFO:0005036	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004584	"A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood" []	560901	\N	\N	EFO	2	EFO	hematological measurement	mean platelet volume
EFO:0001444	EFO:0006846	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004584	"A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood" []	560902	\N	\N	EFO	2	EFO	measurement	mean platelet volume
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004584	"A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood" []	1142705	\N	\N	EFO	3	EFO	measurement	mean platelet volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004584	"A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood" []	2025488	\N	\N	EFO	4	EFO	information entity	mean platelet volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004584	"A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood" []	2999582	\N	\N	EFO	5	EFO	experimental factor	mean platelet volume
EFO:0004585	\N	\N	"A quantification of the naphthyl-keratin adduct levels. naphthyl-keratin adduct is used as a marker for exposure to the xenobiotic napthalene." []	EFO:0004585	"A quantification of the naphthyl-keratin adduct levels. naphthyl-keratin adduct is used as a marker for exposure to the xenobiotic napthalene." []	66495	\N	\N	EFO	0	EFO	naphthyl-keratin adduct measurement	naphthyl-keratin adduct measurement
EFO:0001444	EFO:0004585	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004585	"A quantification of the naphthyl-keratin adduct levels. naphthyl-keratin adduct is used as a marker for exposure to the xenobiotic napthalene." []	207762	\N	\N	EFO	1	EFO	measurement	naphthyl-keratin adduct measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004585	"A quantification of the naphthyl-keratin adduct levels. naphthyl-keratin adduct is used as a marker for exposure to the xenobiotic napthalene." []	560903	\N	\N	EFO	2	EFO	information entity	naphthyl-keratin adduct measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004585	"A quantification of the naphthyl-keratin adduct levels. naphthyl-keratin adduct is used as a marker for exposure to the xenobiotic napthalene." []	1142707	\N	\N	EFO	3	EFO	experimental factor	naphthyl-keratin adduct measurement
EFO:0004586	\N	\N	"A complete blood cell count quantifies specific blood components. " []	EFO:0004586	"A complete blood cell count quantifies specific blood components. " []	66496	\N	\N	EFO	0	EFO	complete blood cell count	complete blood cell count
EFO:0004503	EFO:0004586	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004586	"A complete blood cell count quantifies specific blood components. " []	207763	\N	\N	EFO	1	EFO	hematological measurement	complete blood cell count
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004586	"A complete blood cell count quantifies specific blood components. " []	560904	\N	\N	EFO	2	EFO	measurement	complete blood cell count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004586	"A complete blood cell count quantifies specific blood components. " []	1142708	\N	\N	EFO	3	EFO	information entity	complete blood cell count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004586	"A complete blood cell count quantifies specific blood components. " []	2025490	\N	\N	EFO	4	EFO	experimental factor	complete blood cell count
EFO:0004587	\N	\N	"A quantification of lymphocytes in blood." []	EFO:0004587	"A quantification of lymphocytes in blood." []	66497	\N	\N	EFO	0	EFO	lymphocyte count	lymphocyte count
EFO:0004308	EFO:0004587	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0004587	"A quantification of lymphocytes in blood." []	207764	\N	\N	EFO	1	EFO	leukocyte count	lymphocyte count
EFO:0006843	EFO:0004587	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0004587	"A quantification of lymphocytes in blood." []	207765	\N	\N	EFO	1	EFO	infectious disease biomarker	lymphocyte count
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004587	"A quantification of lymphocytes in blood." []	560905	\N	\N	EFO	2	EFO	hematological measurement	lymphocyte count
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004587	"A quantification of lymphocytes in blood." []	560906	\N	\N	EFO	2	EFO	measurement	lymphocyte count
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004587	"A quantification of lymphocytes in blood." []	1142709	\N	\N	EFO	3	EFO	measurement	lymphocyte count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004587	"A quantification of lymphocytes in blood." []	2025491	\N	\N	EFO	4	EFO	information entity	lymphocyte count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004587	"A quantification of lymphocytes in blood." []	2999583	\N	\N	EFO	5	EFO	experimental factor	lymphocyte count
EFO:0004589	\N	\N	"bachial circumference (BC) is a measurement of the diameter of the upper arm and  can be used as an indicator of muscle mass and fat tissue." []	EFO:0004589	"bachial circumference (BC) is a measurement of the diameter of the upper arm and  can be used as an indicator of muscle mass and fat tissue." []	66498	\N	\N	EFO	0	EFO	brachial circumference	brachial circumference
EFO:0004324	EFO:0004589	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004589	"bachial circumference (BC) is a measurement of the diameter of the upper arm and  can be used as an indicator of muscle mass and fat tissue." []	207766	\N	\N	EFO	1	EFO	body weights and measures	brachial circumference
EFO:0004515	EFO:0004589	\N	"A muscle mass measurement is the quantification of the mass of a muscle e.g. skeletal muscle for an individual." []	EFO:0004589	"bachial circumference (BC) is a measurement of the diameter of the upper arm and  can be used as an indicator of muscle mass and fat tissue." []	207767	\N	\N	EFO	1	EFO	muscle measurement	brachial circumference
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004589	"bachial circumference (BC) is a measurement of the diameter of the upper arm and  can be used as an indicator of muscle mass and fat tissue." []	560907	\N	\N	EFO	2	EFO	anthropometric measurement	brachial circumference
EFO:0004302	EFO:0004515	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004589	"bachial circumference (BC) is a measurement of the diameter of the upper arm and  can be used as an indicator of muscle mass and fat tissue." []	560908	\N	\N	EFO	2	EFO	anthropometric measurement	brachial circumference
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004589	"bachial circumference (BC) is a measurement of the diameter of the upper arm and  can be used as an indicator of muscle mass and fat tissue." []	1142711	\N	\N	EFO	3	EFO	measurement	brachial circumference
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004589	"bachial circumference (BC) is a measurement of the diameter of the upper arm and  can be used as an indicator of muscle mass and fat tissue." []	2025493	\N	\N	EFO	4	EFO	information entity	brachial circumference
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004589	"bachial circumference (BC) is a measurement of the diameter of the upper arm and  can be used as an indicator of muscle mass and fat tissue." []	3178145	\N	\N	EFO	5	EFO	experimental factor	brachial circumference
EFO:0004591	\N	\N	"Asthma that starts in childhood." []	EFO:0004591	"Asthma that starts in childhood." []	66499	\N	\N	EFO	0	EFO	childhood onset asthma	childhood onset asthma
EFO:0000270	EFO:0004591	\N	"Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." []	EFO:0004591	"Asthma that starts in childhood." []	207768	\N	\N	EFO	1	EFO	asthma	childhood onset asthma
EFO:1002018	EFO:0000270	\N	"a respiratory system disease that has its manifestation in the bronchus" []	EFO:0004591	"Asthma that starts in childhood." []	560909	\N	\N	EFO	2	EFO	bronchial disease	childhood onset asthma
EFO:0000684	EFO:1002018	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0004591	"Asthma that starts in childhood." []	1142712	\N	\N	EFO	3	EFO	respiratory system disease	childhood onset asthma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004591	"Asthma that starts in childhood." []	2025494	\N	\N	EFO	4	EFO	disease	childhood onset asthma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004591	"Asthma that starts in childhood." []	3178146	\N	\N	EFO	5	EFO	disposition	childhood onset asthma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004591	"Asthma that starts in childhood." []	4388083	\N	\N	EFO	6	EFO	material property	childhood onset asthma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004591	"Asthma that starts in childhood." []	5408749	\N	\N	EFO	7	EFO	experimental factor	childhood onset asthma
EFO:0004593	\N	\N	"Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy (especially during third trimester). Gestational diabetes is caused when the body of a pregnant woman does not secrete enough insulin required during pregnancy, leading to increased blood sugar levels." []	EFO:0004593	"Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy (especially during third trimester). Gestational diabetes is caused when the body of a pregnant woman does not secrete enough insulin required during pregnancy, leading to increased blood sugar levels." []	66500	\N	\N	EFO	0	EFO	gestational diabetes	gestational diabetes
EFO:0000400	EFO:0004593	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	EFO:0004593	"Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy (especially during third trimester). Gestational diabetes is caused when the body of a pregnant woman does not secrete enough insulin required during pregnancy, leading to increased blood sugar levels." []	207769	\N	\N	EFO	1	EFO	diabetes mellitus	gestational diabetes
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0004593	"Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy (especially during third trimester). Gestational diabetes is caused when the body of a pregnant woman does not secrete enough insulin required during pregnancy, leading to increased blood sugar levels." []	560910	\N	\N	EFO	2	EFO	metabolic disease	gestational diabetes
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004593	"Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy (especially during third trimester). Gestational diabetes is caused when the body of a pregnant woman does not secrete enough insulin required during pregnancy, leading to increased blood sugar levels." []	1142713	\N	\N	EFO	3	EFO	disease	gestational diabetes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004593	"Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy (especially during third trimester). Gestational diabetes is caused when the body of a pregnant woman does not secrete enough insulin required during pregnancy, leading to increased blood sugar levels." []	2025495	\N	\N	EFO	4	EFO	disposition	gestational diabetes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004593	"Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy (especially during third trimester). Gestational diabetes is caused when the body of a pregnant woman does not secrete enough insulin required during pregnancy, leading to increased blood sugar levels." []	3178147	\N	\N	EFO	5	EFO	material property	gestational diabetes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004593	"Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy (especially during third trimester). Gestational diabetes is caused when the body of a pregnant woman does not secrete enough insulin required during pregnancy, leading to increased blood sugar levels." []	4388084	\N	\N	EFO	6	EFO	experimental factor	gestational diabetes
EFO:0004594	\N	\N	"An eosinophilic esophagitis that starts in childhood." []	EFO:0004594	"An eosinophilic esophagitis that starts in childhood." []	66501	\N	\N	EFO	0	EFO	childhood eosinophilic esophagitis	childhood eosinophilic esophagitis
EFO:0004232	EFO:0004594	\N	"Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens." []	EFO:0004594	"An eosinophilic esophagitis that starts in childhood." []	207770	\N	\N	EFO	1	EFO	eosinophilic esophagitis	childhood eosinophilic esophagitis
EFO:0000405	EFO:0004232	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0004594	"An eosinophilic esophagitis that starts in childhood." []	560911	\N	\N	EFO	2	EFO	digestive system disease	childhood eosinophilic esophagitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004594	"An eosinophilic esophagitis that starts in childhood." []	1142714	\N	\N	EFO	3	EFO	disease	childhood eosinophilic esophagitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004594	"An eosinophilic esophagitis that starts in childhood." []	2025496	\N	\N	EFO	4	EFO	disposition	childhood eosinophilic esophagitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004594	"An eosinophilic esophagitis that starts in childhood." []	3178148	\N	\N	EFO	5	EFO	material property	childhood eosinophilic esophagitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004594	"An eosinophilic esophagitis that starts in childhood." []	4388085	\N	\N	EFO	6	EFO	experimental factor	childhood eosinophilic esophagitis
EFO:0004595	\N	\N	"The process of transmission of HIV infection from mother to child during pregnancy, birth or breastfeeding." []	EFO:0004595	"The process of transmission of HIV infection from mother to child during pregnancy, birth or breastfeeding." []	66502	\N	\N	EFO	0	EFO	HIV mother to child transmission	HIV mother to child transmission
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	EFO:0004595	"The process of transmission of HIV infection from mother to child during pregnancy, birth or breastfeeding." []	194672	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	HIV mother to child transmission
EFO:0004596	\N	\N	"Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" []	EFO:0004596	"Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" []	66503	\N	\N	EFO	0	EFO	diabetes mellitus type 2 associated cataract	diabetes mellitus type 2 associated cataract
EFO:0001059	EFO:0004596	\N	"Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)" []	EFO:0004596	"Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" []	207771	\N	\N	EFO	1	EFO	cataract	diabetes mellitus type 2 associated cataract
EFO:0001058	EFO:0001059	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0004596	"Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" []	560912	\N	\N	EFO	2	EFO	sensory system disease	diabetes mellitus type 2 associated cataract
EFO:0003966	EFO:0001059	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0004596	"Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" []	560913	\N	\N	EFO	2	EFO	eye disease	diabetes mellitus type 2 associated cataract
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004596	"Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" []	1142715	\N	\N	EFO	3	EFO	nervous system disease	diabetes mellitus type 2 associated cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004596	"Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" []	1142716	\N	\N	EFO	3	EFO	disease	diabetes mellitus type 2 associated cataract
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004596	"Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" []	2025497	\N	\N	EFO	4	EFO	disease	diabetes mellitus type 2 associated cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004596	"Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" []	3178149	\N	\N	EFO	5	EFO	disposition	diabetes mellitus type 2 associated cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004596	"Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" []	4132661	\N	\N	EFO	6	EFO	material property	diabetes mellitus type 2 associated cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004596	"Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" []	5180982	\N	\N	EFO	7	EFO	experimental factor	diabetes mellitus type 2 associated cataract
EFO:0004597	\N	\N	"Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition which is classified as a Transmissible Spongiform Encephalopathy (TSE) because of its ability to be transmitted and the characteristic spongy degeneration of the brain that it causes. vCJD was first described in the United Kingdom in March 1996 and has been linked with exposure to a TSE of cattle called Bovine Spongiform Encephalopathy (BSE), also known as Classical BSE1, which was first reported in the United Kingdom in 1986." []	EFO:0004597	"Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition which is classified as a Transmissible Spongiform Encephalopathy (TSE) because of its ability to be transmitted and the characteristic spongy degeneration of the brain that it causes. vCJD was first described in the United Kingdom in March 1996 and has been linked with exposure to a TSE of cattle called Bovine Spongiform Encephalopathy (BSE), also known as Classical BSE1, which was first reported in the United Kingdom in 1986." []	66504	\N	\N	EFO	0	EFO	variant Creutzfeld Jacob disease	variant Creutzfeld Jacob disease
EFO:0004226	EFO:0004597	\N	"A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))." []	EFO:0004597	"Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition which is classified as a Transmissible Spongiform Encephalopathy (TSE) because of its ability to be transmitted and the characteristic spongy degeneration of the brain that it causes. vCJD was first described in the United Kingdom in March 1996 and has been linked with exposure to a TSE of cattle called Bovine Spongiform Encephalopathy (BSE), also known as Classical BSE1, which was first reported in the United Kingdom in 1986." []	207772	\N	\N	EFO	1	EFO	Creutzfeldt Jacob Disease	variant Creutzfeld Jacob disease
EFO:0004720	EFO:0004226	\N	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	EFO:0004597	"Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition which is classified as a Transmissible Spongiform Encephalopathy (TSE) because of its ability to be transmitted and the characteristic spongy degeneration of the brain that it causes. vCJD was first described in the United Kingdom in March 1996 and has been linked with exposure to a TSE of cattle called Bovine Spongiform Encephalopathy (BSE), also known as Classical BSE1, which was first reported in the United Kingdom in 1986." []	560914	\N	\N	EFO	2	EFO	prion disease	variant Creutzfeld Jacob disease
EFO:0000618	EFO:0004720	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004597	"Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition which is classified as a Transmissible Spongiform Encephalopathy (TSE) because of its ability to be transmitted and the characteristic spongy degeneration of the brain that it causes. vCJD was first described in the United Kingdom in March 1996 and has been linked with exposure to a TSE of cattle called Bovine Spongiform Encephalopathy (BSE), also known as Classical BSE1, which was first reported in the United Kingdom in 1986." []	1142717	\N	\N	EFO	3	EFO	nervous system disease	variant Creutzfeld Jacob disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004597	"Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition which is classified as a Transmissible Spongiform Encephalopathy (TSE) because of its ability to be transmitted and the characteristic spongy degeneration of the brain that it causes. vCJD was first described in the United Kingdom in March 1996 and has been linked with exposure to a TSE of cattle called Bovine Spongiform Encephalopathy (BSE), also known as Classical BSE1, which was first reported in the United Kingdom in 1986." []	2025499	\N	\N	EFO	4	EFO	disease	variant Creutzfeld Jacob disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004597	"Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition which is classified as a Transmissible Spongiform Encephalopathy (TSE) because of its ability to be transmitted and the characteristic spongy degeneration of the brain that it causes. vCJD was first described in the United Kingdom in March 1996 and has been linked with exposure to a TSE of cattle called Bovine Spongiform Encephalopathy (BSE), also known as Classical BSE1, which was first reported in the United Kingdom in 1986." []	3178151	\N	\N	EFO	5	EFO	disposition	variant Creutzfeld Jacob disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004597	"Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition which is classified as a Transmissible Spongiform Encephalopathy (TSE) because of its ability to be transmitted and the characteristic spongy degeneration of the brain that it causes. vCJD was first described in the United Kingdom in March 1996 and has been linked with exposure to a TSE of cattle called Bovine Spongiform Encephalopathy (BSE), also known as Classical BSE1, which was first reported in the United Kingdom in 1986." []	4388087	\N	\N	EFO	6	EFO	material property	variant Creutzfeld Jacob disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004597	"Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition which is classified as a Transmissible Spongiform Encephalopathy (TSE) because of its ability to be transmitted and the characteristic spongy degeneration of the brain that it causes. vCJD was first described in the United Kingdom in March 1996 and has been linked with exposure to a TSE of cattle called Bovine Spongiform Encephalopathy (BSE), also known as Classical BSE1, which was first reported in the United Kingdom in 1986." []	5408750	\N	\N	EFO	7	EFO	experimental factor	variant Creutzfeld Jacob disease
EFO:0004599	\N	\N	"Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." []	EFO:0004599	"Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." []	66505	\N	\N	EFO	0	EFO	acute graft vs. host disease	acute graft vs. host disease
EFO:0000540	EFO:0004599	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004599	"Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." []	207773	\N	\N	EFO	1	EFO	immune system disease	acute graft vs. host disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004599	"Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." []	560915	\N	\N	EFO	2	EFO	disease	acute graft vs. host disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004599	"Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." []	1142718	\N	\N	EFO	3	EFO	disposition	acute graft vs. host disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004599	"Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." []	2025500	\N	\N	EFO	4	EFO	material property	acute graft vs. host disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004599	"Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." []	3178152	\N	\N	EFO	5	EFO	experimental factor	acute graft vs. host disease
EFO:0004600	\N	\N	"Genomic data is data about the genomes of an organism." []	EFO:0004600	"Genomic data is data about the genomes of an organism." []	66506	\N	\N	EFO	0	EFO	genomic data	genomic data
IAO:0000100	EFO:0004600	\N	"A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit." []	EFO:0004600	"Genomic data is data about the genomes of an organism." []	207774	\N	\N	EFO	1	EFO	data set	genomic data
IAO:0000030	IAO:0000100	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004600	"Genomic data is data about the genomes of an organism." []	560916	\N	\N	EFO	2	EFO	information entity	genomic data
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004600	"Genomic data is data about the genomes of an organism." []	1142719	\N	\N	EFO	3	EFO	experimental factor	genomic data
EFO:0004601	\N	\N	"Transcriptomic data is data about RNA transcribed by a cell, cells or organism. This includes mRNA, tRNA and cDNA." []	EFO:0004601	"Transcriptomic data is data about RNA transcribed by a cell, cells or organism. This includes mRNA, tRNA and cDNA." []	66507	\N	\N	EFO	0	EFO	transcriptomic data	transcriptomic data
IAO:0000100	EFO:0004601	\N	"A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit." []	EFO:0004601	"Transcriptomic data is data about RNA transcribed by a cell, cells or organism. This includes mRNA, tRNA and cDNA." []	207775	\N	\N	EFO	1	EFO	data set	transcriptomic data
IAO:0000030	IAO:0000100	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004601	"Transcriptomic data is data about RNA transcribed by a cell, cells or organism. This includes mRNA, tRNA and cDNA." []	560917	\N	\N	EFO	2	EFO	information entity	transcriptomic data
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004601	"Transcriptomic data is data about RNA transcribed by a cell, cells or organism. This includes mRNA, tRNA and cDNA." []	1142720	\N	\N	EFO	3	EFO	experimental factor	transcriptomic data
EFO:0004602	\N	\N	"Metagenomic data is data about the genomes of a sample or samples containing mixed material such as from genetic material recovered directly from environmental samples." []	EFO:0004602	"Metagenomic data is data about the genomes of a sample or samples containing mixed material such as from genetic material recovered directly from environmental samples." []	66508	\N	\N	EFO	0	EFO	metagenomic data	metagenomic data
IAO:0000100	EFO:0004602	\N	"A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit." []	EFO:0004602	"Metagenomic data is data about the genomes of a sample or samples containing mixed material such as from genetic material recovered directly from environmental samples." []	207776	\N	\N	EFO	1	EFO	data set	metagenomic data
IAO:0000030	IAO:0000100	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004602	"Metagenomic data is data about the genomes of a sample or samples containing mixed material such as from genetic material recovered directly from environmental samples." []	560918	\N	\N	EFO	2	EFO	information entity	metagenomic data
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004602	"Metagenomic data is data about the genomes of a sample or samples containing mixed material such as from genetic material recovered directly from environmental samples." []	1142721	\N	\N	EFO	3	EFO	experimental factor	metagenomic data
EFO:0004603	\N	\N	"Metatranscriptomic data is data about transcriptomic data from groups of organisms." []	EFO:0004603	"Metatranscriptomic data is data about transcriptomic data from groups of organisms." []	66509	\N	\N	EFO	0	EFO	metatranscriptomic data	metatranscriptomic data
IAO:0000100	EFO:0004603	\N	"A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit." []	EFO:0004603	"Metatranscriptomic data is data about transcriptomic data from groups of organisms." []	207777	\N	\N	EFO	1	EFO	data set	metatranscriptomic data
IAO:0000030	IAO:0000100	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004603	"Metatranscriptomic data is data about transcriptomic data from groups of organisms." []	560919	\N	\N	EFO	2	EFO	information entity	metatranscriptomic data
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004603	"Metatranscriptomic data is data about transcriptomic data from groups of organisms." []	1142722	\N	\N	EFO	3	EFO	experimental factor	metatranscriptomic data
EFO:0004604	\N	\N	"Synthetic DNA data is data about DNA that has been artificially created without initial template DNA such as from naturally occuring genomic sequences in an organism." []	EFO:0004604	"Synthetic DNA data is data about DNA that has been artificially created without initial template DNA such as from naturally occuring genomic sequences in an organism." []	66510	\N	\N	EFO	0	EFO	synthetic DNA data	synthetic DNA data
IAO:0000100	EFO:0004604	\N	"A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit." []	EFO:0004604	"Synthetic DNA data is data about DNA that has been artificially created without initial template DNA such as from naturally occuring genomic sequences in an organism." []	207778	\N	\N	EFO	1	EFO	data set	synthetic DNA data
IAO:0000030	IAO:0000100	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004604	"Synthetic DNA data is data about DNA that has been artificially created without initial template DNA such as from naturally occuring genomic sequences in an organism." []	560920	\N	\N	EFO	2	EFO	information entity	synthetic DNA data
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004604	"Synthetic DNA data is data about DNA that has been artificially created without initial template DNA such as from naturally occuring genomic sequences in an organism." []	1142723	\N	\N	EFO	3	EFO	experimental factor	synthetic DNA data
EFO:0004605	\N	\N	"Viral RNA data is data about a virus which stores its genetic information in RNA." []	EFO:0004605	"Viral RNA data is data about a virus which stores its genetic information in RNA." []	66511	\N	\N	EFO	0	EFO	viral RNA data	viral RNA data
IAO:0000100	EFO:0004605	\N	"A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit." []	EFO:0004605	"Viral RNA data is data about a virus which stores its genetic information in RNA." []	207779	\N	\N	EFO	1	EFO	data set	viral RNA data
IAO:0000030	IAO:0000100	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004605	"Viral RNA data is data about a virus which stores its genetic information in RNA." []	560921	\N	\N	EFO	2	EFO	information entity	viral RNA data
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004605	"Viral RNA data is data about a virus which stores its genetic information in RNA." []	1142724	\N	\N	EFO	3	EFO	experimental factor	viral RNA data
EFO:0004606	\N	\N	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	EFO:0004606	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	66512	\N	\N	EFO	0	EFO	gallbladder neoplasm	gallbladder neoplasm
EFO:0000616	EFO:0004606	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004606	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	207780	\N	\N	EFO	1	EFO	neoplasm	gallbladder neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004606	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	560922	\N	\N	EFO	2	EFO	disease	gallbladder neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004606	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	1142725	\N	\N	EFO	3	EFO	disposition	gallbladder neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004606	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	2025501	\N	\N	EFO	4	EFO	material property	gallbladder neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004606	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	3178153	\N	\N	EFO	5	EFO	experimental factor	gallbladder neoplasm
EFO:0004607	\N	\N	"A peptic ulcer arising in the small intestine." []	EFO:0004607	"A peptic ulcer arising in the small intestine." []	66513	\N	\N	EFO	0	EFO	duodenal ulcer	duodenal ulcer
EFO:0000405	EFO:0004607	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0004607	"A peptic ulcer arising in the small intestine." []	207781	\N	\N	EFO	1	EFO	digestive system disease	duodenal ulcer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004607	"A peptic ulcer arising in the small intestine." []	560923	\N	\N	EFO	2	EFO	disease	duodenal ulcer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004607	"A peptic ulcer arising in the small intestine." []	1142726	\N	\N	EFO	3	EFO	disposition	duodenal ulcer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004607	"A peptic ulcer arising in the small intestine." []	2025502	\N	\N	EFO	4	EFO	material property	duodenal ulcer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004607	"A peptic ulcer arising in the small intestine." []	3178154	\N	\N	EFO	5	EFO	experimental factor	duodenal ulcer
EFO:0004608	\N	\N	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	66514	\N	\N	EFO	0	EFO	cystic fibrosis associated meconium ileum	cystic fibrosis associated meconium ileum
EFO:0000405	EFO:0004608	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	207782	\N	\N	EFO	1	EFO	digestive system disease	cystic fibrosis associated meconium ileum
Orphanet:586	EFO:0004608	\N	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	207783	\N	\N	EFO	1	EFO	Cystic fibrosis	cystic fibrosis associated meconium ileum
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	560924	\N	\N	EFO	2	EFO	disease	cystic fibrosis associated meconium ileum
Orphanet:156610	Orphanet:586	\N	"" []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	560925	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	cystic fibrosis associated meconium ileum
Orphanet:165661	Orphanet:586	\N	"" []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	560926	\N	\N	EFO	2	EFO	Genetic pancreatic disease	cystic fibrosis associated meconium ileum
Orphanet:400003	Orphanet:586	\N	"" []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	560927	\N	\N	EFO	2	EFO	Rare genetic disorder with obstructive azoospermia	cystic fibrosis associated meconium ileum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	5817366	\N	\N	EFO	8	EFO	disposition	cystic fibrosis associated meconium ileum
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	1142728	\N	\N	EFO	3	EFO	genetic disorder	cystic fibrosis associated meconium ileum
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	1142729	\N	\N	EFO	3	EFO	respiratory system disease	cystic fibrosis associated meconium ileum
EFO:0001379	Orphanet:165661	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	1142730	\N	\N	EFO	3	EFO	endocrine system disease	cystic fibrosis associated meconium ileum
Orphanet:165652	Orphanet:165661	\N	"" []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	1142731	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	cystic fibrosis associated meconium ileum
Orphanet:399998	Orphanet:400003	\N	"" []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	1142732	\N	\N	EFO	3	EFO	Male infertility due to obstructive azoospermia of genetic origin	cystic fibrosis associated meconium ileum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	6370805	\N	\N	EFO	9	EFO	material property	cystic fibrosis associated meconium ileum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	5408751	\N	\N	EFO	7	EFO	disease	cystic fibrosis associated meconium ileum
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	2025505	\N	\N	EFO	4	EFO	disease	cystic fibrosis associated meconium ileum
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	2025506	\N	\N	EFO	4	EFO	disease	cystic fibrosis associated meconium ileum
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	2025507	\N	\N	EFO	4	EFO	genetic disorder	cystic fibrosis associated meconium ileum
Orphanet:399980	Orphanet:399998	\N	"" []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	2025508	\N	\N	EFO	4	EFO	Rare genetic male infertility	cystic fibrosis associated meconium ileum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	6762343	\N	\N	EFO	10	EFO	experimental factor	cystic fibrosis associated meconium ileum
Orphanet:275742	Orphanet:399980	\N	"" []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	3178158	\N	\N	EFO	5	EFO	Genetic infertility	cystic fibrosis associated meconium ileum
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	4388088	\N	\N	EFO	6	EFO	genetic disorder	cystic fibrosis associated meconium ileum
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	4388089	\N	\N	EFO	6	EFO	reproductive system disease	cystic fibrosis associated meconium ileum
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004608	"Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosisThe presence of meconium ileus is not related to the severity of the cystic fibrosis." []	5408752	\N	\N	EFO	7	EFO	disease	cystic fibrosis associated meconium ileum
EFO:0004609	\N	\N	"Schizophrenia which does not respond to commonly used treatments." []	EFO:0004609	"Schizophrenia which does not respond to commonly used treatments." []	66515	\N	\N	EFO	0	EFO	treatment refractory schizophrenia	treatment refractory schizophrenia
EFO:0000692	EFO:0004609	\N	"A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior." []	EFO:0004609	"Schizophrenia which does not respond to commonly used treatments." []	207784	\N	\N	EFO	1	EFO	schizophrenia	treatment refractory schizophrenia
EFO:0000677	EFO:0000692	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004609	"Schizophrenia which does not respond to commonly used treatments." []	560928	\N	\N	EFO	2	EFO	mental or behavioural disorder	treatment refractory schizophrenia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004609	"Schizophrenia which does not respond to commonly used treatments." []	1142733	\N	\N	EFO	3	EFO	brain disease	treatment refractory schizophrenia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004609	"Schizophrenia which does not respond to commonly used treatments." []	2025509	\N	\N	EFO	4	EFO	nervous system disease	treatment refractory schizophrenia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004609	"Schizophrenia which does not respond to commonly used treatments." []	3178159	\N	\N	EFO	5	EFO	disease	treatment refractory schizophrenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004609	"Schizophrenia which does not respond to commonly used treatments." []	4388090	\N	\N	EFO	6	EFO	disposition	treatment refractory schizophrenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004609	"Schizophrenia which does not respond to commonly used treatments." []	5408753	\N	\N	EFO	7	EFO	material property	treatment refractory schizophrenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004609	"Schizophrenia which does not respond to commonly used treatments." []	6147489	\N	\N	EFO	8	EFO	experimental factor	treatment refractory schizophrenia
EFO:0004610	\N	\N	"Acute lung injury(ALI) is a diffuse heterogeneouslunginjury characterized byhypoxemia, non cardiogenicpulmonary edema, lowlung complianceand widespreadcapillaryleakage. ALI is caused by any stimulus of local or systemicinflammation, principallysepsis." []	EFO:0004610	"Acute lung injury(ALI) is a diffuse heterogeneouslunginjury characterized byhypoxemia, non cardiogenicpulmonary edema, lowlung complianceand widespreadcapillaryleakage. ALI is caused by any stimulus of local or systemicinflammation, principallysepsis." []	66516	\N	\N	EFO	0	EFO	acute lung injury	acute lung injury
EFO:0003818	EFO:0004610	\N	"Pathological processes involving any part of the LUNG." []	EFO:0004610	"Acute lung injury(ALI) is a diffuse heterogeneouslunginjury characterized byhypoxemia, non cardiogenicpulmonary edema, lowlung complianceand widespreadcapillaryleakage. ALI is caused by any stimulus of local or systemicinflammation, principallysepsis." []	207785	\N	\N	EFO	1	EFO	lung disease	acute lung injury
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0004610	"Acute lung injury(ALI) is a diffuse heterogeneouslunginjury characterized byhypoxemia, non cardiogenicpulmonary edema, lowlung complianceand widespreadcapillaryleakage. ALI is caused by any stimulus of local or systemicinflammation, principallysepsis." []	560929	\N	\N	EFO	2	EFO	respiratory system disease	acute lung injury
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004610	"Acute lung injury(ALI) is a diffuse heterogeneouslunginjury characterized byhypoxemia, non cardiogenicpulmonary edema, lowlung complianceand widespreadcapillaryleakage. ALI is caused by any stimulus of local or systemicinflammation, principallysepsis." []	1142734	\N	\N	EFO	3	EFO	disease	acute lung injury
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004610	"Acute lung injury(ALI) is a diffuse heterogeneouslunginjury characterized byhypoxemia, non cardiogenicpulmonary edema, lowlung complianceand widespreadcapillaryleakage. ALI is caused by any stimulus of local or systemicinflammation, principallysepsis." []	2025510	\N	\N	EFO	4	EFO	disposition	acute lung injury
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004610	"Acute lung injury(ALI) is a diffuse heterogeneouslunginjury characterized byhypoxemia, non cardiogenicpulmonary edema, lowlung complianceand widespreadcapillaryleakage. ALI is caused by any stimulus of local or systemicinflammation, principallysepsis." []	3178160	\N	\N	EFO	5	EFO	material property	acute lung injury
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004610	"Acute lung injury(ALI) is a diffuse heterogeneouslunginjury characterized byhypoxemia, non cardiogenicpulmonary edema, lowlung complianceand widespreadcapillaryleakage. ALI is caused by any stimulus of local or systemicinflammation, principallysepsis." []	4388091	\N	\N	EFO	6	EFO	experimental factor	acute lung injury
EFO:0004611	\N	\N	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	66517	\N	\N	EFO	0	EFO	low density lipoprotein cholesterol measurement	low density lipoprotein cholesterol measurement
EFO:0004529	EFO:0004611	\N	"A measure of circulating lipid" []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	207786	\N	\N	EFO	1	EFO	lipid measurement	low density lipoprotein cholesterol measurement
EFO:0004732	EFO:0004611	\N	"Is the quantification of some lipoprotein" []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	207787	\N	\N	EFO	1	EFO	lipoprotein measurement	low density lipoprotein cholesterol measurement
EFO:0005278	EFO:0004611	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	207788	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	low density lipoprotein cholesterol measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	560930	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	low density lipoprotein cholesterol measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	560931	\N	\N	EFO	2	EFO	protein measurement	low density lipoprotein cholesterol measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	560932	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	low density lipoprotein cholesterol measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	560933	\N	\N	EFO	2	EFO	cardiovascular measurement	low density lipoprotein cholesterol measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	1142735	\N	\N	EFO	3	EFO	measurement	low density lipoprotein cholesterol measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	1142736	\N	\N	EFO	3	EFO	measurement	low density lipoprotein cholesterol measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	1142737	\N	\N	EFO	3	EFO	measurement	low density lipoprotein cholesterol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	2025511	\N	\N	EFO	4	EFO	information entity	low density lipoprotein cholesterol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004611	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	3178161	\N	\N	EFO	5	EFO	experimental factor	low density lipoprotein cholesterol measurement
EFO:0004612	\N	\N	"The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." []	EFO:0004612	"The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." []	66518	\N	\N	EFO	0	EFO	high density lipoprotein cholesterol measurement	high density lipoprotein cholesterol measurement
EFO:0004529	EFO:0004612	\N	"A measure of circulating lipid" []	EFO:0004612	"The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." []	207789	\N	\N	EFO	1	EFO	lipid measurement	high density lipoprotein cholesterol measurement
EFO:0004732	EFO:0004612	\N	"Is the quantification of some lipoprotein" []	EFO:0004612	"The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." []	207790	\N	\N	EFO	1	EFO	lipoprotein measurement	high density lipoprotein cholesterol measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0004612	"The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." []	560934	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	high density lipoprotein cholesterol measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004612	"The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." []	560935	\N	\N	EFO	2	EFO	protein measurement	high density lipoprotein cholesterol measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0004612	"The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." []	560936	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	high density lipoprotein cholesterol measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004612	"The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." []	1142738	\N	\N	EFO	3	EFO	measurement	high density lipoprotein cholesterol measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004612	"The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." []	1142739	\N	\N	EFO	3	EFO	measurement	high density lipoprotein cholesterol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004612	"The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." []	2025512	\N	\N	EFO	4	EFO	information entity	high density lipoprotein cholesterol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004612	"The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." []	3178162	\N	\N	EFO	5	EFO	experimental factor	high density lipoprotein cholesterol measurement
EFO:0004614	\N	\N	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	66519	\N	\N	EFO	0	EFO	apolipoprotein A 1 measurement	apolipoprotein A 1 measurement
EFO:0004732	EFO:0004614	\N	"Is the quantification of some lipoprotein" []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	207791	\N	\N	EFO	1	EFO	lipoprotein measurement	apolipoprotein A 1 measurement
EFO:0004872	EFO:0004614	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	207792	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	apolipoprotein A 1 measurement
EFO:0005278	EFO:0004614	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	207793	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	apolipoprotein A 1 measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	560937	\N	\N	EFO	2	EFO	protein measurement	apolipoprotein A 1 measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	560938	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	apolipoprotein A 1 measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	560939	\N	\N	EFO	2	EFO	measurement	apolipoprotein A 1 measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	560940	\N	\N	EFO	2	EFO	cardiovascular measurement	apolipoprotein A 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	1142740	\N	\N	EFO	3	EFO	measurement	apolipoprotein A 1 measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	1142741	\N	\N	EFO	3	EFO	measurement	apolipoprotein A 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	2025513	\N	\N	EFO	4	EFO	information entity	apolipoprotein A 1 measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	1142743	\N	\N	EFO	3	EFO	measurement	apolipoprotein A 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004614	"Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and  is the major protein component of high density lipoprotein (HDL) in plasma.   It is is implicated as a risk factor for atherosclerotic diseases such ascoronary heart diseaseandstroke." []	2999584	\N	\N	EFO	5	EFO	experimental factor	apolipoprotein A 1 measurement
EFO:0004615	\N	\N	"The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71." []	EFO:0004615	"The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71." []	66520	\N	\N	EFO	0	EFO	apolipoprotein B measurement	apolipoprotein B measurement
EFO:0004732	EFO:0004615	\N	"Is the quantification of some lipoprotein" []	EFO:0004615	"The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71." []	207794	\N	\N	EFO	1	EFO	lipoprotein measurement	apolipoprotein B measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004615	"The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71." []	560941	\N	\N	EFO	2	EFO	protein measurement	apolipoprotein B measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0004615	"The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71." []	560942	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	apolipoprotein B measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004615	"The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71." []	1142744	\N	\N	EFO	3	EFO	measurement	apolipoprotein B measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004615	"The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71." []	1142745	\N	\N	EFO	3	EFO	measurement	apolipoprotein B measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004615	"The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71." []	2025515	\N	\N	EFO	4	EFO	information entity	apolipoprotein B measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004615	"The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71." []	3178163	\N	\N	EFO	5	EFO	experimental factor	apolipoprotein B measurement
EFO:0004616	\N	\N	"Knee osteoarthritis is a degenerative disease of the knee joint" []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	66521	\N	\N	EFO	0	EFO	osteoarthritis, knee	osteoarthritis, knee
EFO:0002506	EFO:0004616	\N	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	207795	\N	\N	EFO	1	EFO	osteoarthritis	osteoarthritis, knee
EFO:0005802	EFO:0002506	\N	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	560943	\N	\N	EFO	2	EFO	cartilage disease	osteoarthritis, knee
EFO:0005856	EFO:0002506	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	560944	\N	\N	EFO	2	EFO	arthritis	osteoarthritis, knee
EFO:0002461	EFO:0005802	\N	"Any disease which affects part of the skeletal system." []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	1142746	\N	\N	EFO	3	EFO	skeletal system disease	osteoarthritis, knee
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	1142747	\N	\N	EFO	3	EFO	autoimmune disease	osteoarthritis, knee
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	1142748	\N	\N	EFO	3	EFO	rheumatic disease	osteoarthritis, knee
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	3178166	\N	\N	EFO	5	EFO	disease	osteoarthritis, knee
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	2025517	\N	\N	EFO	4	EFO	immune system disease	osteoarthritis, knee
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	2025518	\N	\N	EFO	4	EFO	skeletal system disease	osteoarthritis, knee
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	4132663	\N	\N	EFO	6	EFO	disposition	osteoarthritis, knee
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	3178165	\N	\N	EFO	5	EFO	disease	osteoarthritis, knee
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	5180983	\N	\N	EFO	7	EFO	material property	osteoarthritis, knee
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004616	"Knee osteoarthritis is a degenerative disease of the knee joint" []	5996599	\N	\N	EFO	8	EFO	experimental factor	osteoarthritis, knee
EFO:0004617	\N	\N	"is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease." []	EFO:0004617	"is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease." []	66522	\N	\N	EFO	0	EFO	cystatin C measurement	cystatin C measurement
EFO:0004742	EFO:0004617	\N	"Is a quantification of some renal system biomarker" []	EFO:0004617	"is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease." []	207796	\N	\N	EFO	1	EFO	renal system measurement	cystatin C measurement
EFO:0004747	EFO:0004617	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004617	"is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease." []	207797	\N	\N	EFO	1	EFO	protein measurement	cystatin C measurement
EFO:0001444	EFO:0004742	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004617	"is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease." []	560945	\N	\N	EFO	2	EFO	measurement	cystatin C measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004617	"is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease." []	560946	\N	\N	EFO	2	EFO	measurement	cystatin C measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004617	"is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease." []	1142749	\N	\N	EFO	3	EFO	information entity	cystatin C measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004617	"is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease." []	2025519	\N	\N	EFO	4	EFO	experimental factor	cystatin C measurement
EFO:0004618	\N	\N	"is a quantification of Vitamin K or Phylloquinone, apolycyclicaromaticketone, based on 2-methyl-1,4-naphthoquinone, with a 3-phytylsubstituent. It is a fat-soluble vitamin that is stable to air and moisture but decomposes in sunlight. It is found naturally in a wide variety of green plants, particularly leaves, since it functions as an electron acceptor duringphotosynthesis, forming part of the electron transport chain ofPhotosystem I." []	EFO:0004618	"is a quantification of Vitamin K or Phylloquinone, apolycyclicaromaticketone, based on 2-methyl-1,4-naphthoquinone, with a 3-phytylsubstituent. It is a fat-soluble vitamin that is stable to air and moisture but decomposes in sunlight. It is found naturally in a wide variety of green plants, particularly leaves, since it functions as an electron acceptor duringphotosynthesis, forming part of the electron transport chain ofPhotosystem I." []	66523	\N	\N	EFO	0	EFO	vitamin K measurement	vitamin K measurement
EFO:0004729	EFO:0004618	\N	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	EFO:0004618	"is a quantification of Vitamin K or Phylloquinone, apolycyclicaromaticketone, based on 2-methyl-1,4-naphthoquinone, with a 3-phytylsubstituent. It is a fat-soluble vitamin that is stable to air and moisture but decomposes in sunlight. It is found naturally in a wide variety of green plants, particularly leaves, since it functions as an electron acceptor duringphotosynthesis, forming part of the electron transport chain ofPhotosystem I." []	207798	\N	\N	EFO	1	EFO	vitamin measurement	vitamin K measurement
EFO:0001444	EFO:0004729	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004618	"is a quantification of Vitamin K or Phylloquinone, apolycyclicaromaticketone, based on 2-methyl-1,4-naphthoquinone, with a 3-phytylsubstituent. It is a fat-soluble vitamin that is stable to air and moisture but decomposes in sunlight. It is found naturally in a wide variety of green plants, particularly leaves, since it functions as an electron acceptor duringphotosynthesis, forming part of the electron transport chain ofPhotosystem I." []	560947	\N	\N	EFO	2	EFO	measurement	vitamin K measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004618	"is a quantification of Vitamin K or Phylloquinone, apolycyclicaromaticketone, based on 2-methyl-1,4-naphthoquinone, with a 3-phytylsubstituent. It is a fat-soluble vitamin that is stable to air and moisture but decomposes in sunlight. It is found naturally in a wide variety of green plants, particularly leaves, since it functions as an electron acceptor duringphotosynthesis, forming part of the electron transport chain ofPhotosystem I." []	1142750	\N	\N	EFO	3	EFO	information entity	vitamin K measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004618	"is a quantification of Vitamin K or Phylloquinone, apolycyclicaromaticketone, based on 2-methyl-1,4-naphthoquinone, with a 3-phytylsubstituent. It is a fat-soluble vitamin that is stable to air and moisture but decomposes in sunlight. It is found naturally in a wide variety of green plants, particularly leaves, since it functions as an electron acceptor duringphotosynthesis, forming part of the electron transport chain ofPhotosystem I." []	2025520	\N	\N	EFO	4	EFO	experimental factor	vitamin K measurement
EFO:0004619	\N	\N	"Is a quantification of factor VII in serum,  (formerly known as proconvertin) is one of the proteins that causes blood to clot in the coagulation cascade. It is an enzyme (EC 3.4.21.21) of the serine protease class. Abnormal measurements of factor VII may be associated with congenital deficiency of factor VII, disseminated intravascular coagulation (DIC), fat malabsorption, liver disease (such as cirrhosis). Vitamin K deficiency, Warfarin (Coumadin) use." []	EFO:0004619	"Is a quantification of factor VII in serum,  (formerly known as proconvertin) is one of the proteins that causes blood to clot in the coagulation cascade. It is an enzyme (EC 3.4.21.21) of the serine protease class. Abnormal measurements of factor VII may be associated with congenital deficiency of factor VII, disseminated intravascular coagulation (DIC), fat malabsorption, liver disease (such as cirrhosis). Vitamin K deficiency, Warfarin (Coumadin) use." []	66524	\N	\N	EFO	0	EFO	factor VII measurement	factor VII measurement
EFO:0004634	EFO:0004619	\N	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	EFO:0004619	"Is a quantification of factor VII in serum,  (formerly known as proconvertin) is one of the proteins that causes blood to clot in the coagulation cascade. It is an enzyme (EC 3.4.21.21) of the serine protease class. Abnormal measurements of factor VII may be associated with congenital deficiency of factor VII, disseminated intravascular coagulation (DIC), fat malabsorption, liver disease (such as cirrhosis). Vitamin K deficiency, Warfarin (Coumadin) use." []	207799	\N	\N	EFO	1	EFO	coagulation factor measurement	factor VII measurement
EFO:0004747	EFO:0004619	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004619	"Is a quantification of factor VII in serum,  (formerly known as proconvertin) is one of the proteins that causes blood to clot in the coagulation cascade. It is an enzyme (EC 3.4.21.21) of the serine protease class. Abnormal measurements of factor VII may be associated with congenital deficiency of factor VII, disseminated intravascular coagulation (DIC), fat malabsorption, liver disease (such as cirrhosis). Vitamin K deficiency, Warfarin (Coumadin) use." []	207800	\N	\N	EFO	1	EFO	protein measurement	factor VII measurement
EFO:0001444	EFO:0004634	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004619	"Is a quantification of factor VII in serum,  (formerly known as proconvertin) is one of the proteins that causes blood to clot in the coagulation cascade. It is an enzyme (EC 3.4.21.21) of the serine protease class. Abnormal measurements of factor VII may be associated with congenital deficiency of factor VII, disseminated intravascular coagulation (DIC), fat malabsorption, liver disease (such as cirrhosis). Vitamin K deficiency, Warfarin (Coumadin) use." []	560948	\N	\N	EFO	2	EFO	measurement	factor VII measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004619	"Is a quantification of factor VII in serum,  (formerly known as proconvertin) is one of the proteins that causes blood to clot in the coagulation cascade. It is an enzyme (EC 3.4.21.21) of the serine protease class. Abnormal measurements of factor VII may be associated with congenital deficiency of factor VII, disseminated intravascular coagulation (DIC), fat malabsorption, liver disease (such as cirrhosis). Vitamin K deficiency, Warfarin (Coumadin) use." []	560949	\N	\N	EFO	2	EFO	measurement	factor VII measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004619	"Is a quantification of factor VII in serum,  (formerly known as proconvertin) is one of the proteins that causes blood to clot in the coagulation cascade. It is an enzyme (EC 3.4.21.21) of the serine protease class. Abnormal measurements of factor VII may be associated with congenital deficiency of factor VII, disseminated intravascular coagulation (DIC), fat malabsorption, liver disease (such as cirrhosis). Vitamin K deficiency, Warfarin (Coumadin) use." []	1142751	\N	\N	EFO	3	EFO	information entity	factor VII measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004619	"Is a quantification of factor VII in serum,  (formerly known as proconvertin) is one of the proteins that causes blood to clot in the coagulation cascade. It is an enzyme (EC 3.4.21.21) of the serine protease class. Abnormal measurements of factor VII may be associated with congenital deficiency of factor VII, disseminated intravascular coagulation (DIC), fat malabsorption, liver disease (such as cirrhosis). Vitamin K deficiency, Warfarin (Coumadin) use." []	2025521	\N	\N	EFO	4	EFO	experimental factor	factor VII measurement
EFO:0004620	\N	\N	"is a quantification of Vitamin B12,vitamin B12orvitamin B-12, is a water-solublevitaminwith a key role in the normal functioning of thebrainandnervous system, and for the formation ofblood. It is one of the eightB vitamins. It is normally involved in themetabolismof everycellof the human body, especially affectingDNAsynthesis and regulation, but alsofatty acidsynthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis." []	EFO:0004620	"is a quantification of Vitamin B12,vitamin B12orvitamin B-12, is a water-solublevitaminwith a key role in the normal functioning of thebrainandnervous system, and for the formation ofblood. It is one of the eightB vitamins. It is normally involved in themetabolismof everycellof the human body, especially affectingDNAsynthesis and regulation, but alsofatty acidsynthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis." []	66525	\N	\N	EFO	0	EFO	vitamin B12 measurement	vitamin B12 measurement
EFO:0004843	EFO:0004620	\N	"Is a quantification of any or all of the B vitamins" []	EFO:0004620	"is a quantification of Vitamin B12,vitamin B12orvitamin B-12, is a water-solublevitaminwith a key role in the normal functioning of thebrainandnervous system, and for the formation ofblood. It is one of the eightB vitamins. It is normally involved in themetabolismof everycellof the human body, especially affectingDNAsynthesis and regulation, but alsofatty acidsynthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis." []	207801	\N	\N	EFO	1	EFO	vitamin B measurement	vitamin B12 measurement
EFO:0004729	EFO:0004843	\N	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	EFO:0004620	"is a quantification of Vitamin B12,vitamin B12orvitamin B-12, is a water-solublevitaminwith a key role in the normal functioning of thebrainandnervous system, and for the formation ofblood. It is one of the eightB vitamins. It is normally involved in themetabolismof everycellof the human body, especially affectingDNAsynthesis and regulation, but alsofatty acidsynthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis." []	560950	\N	\N	EFO	2	EFO	vitamin measurement	vitamin B12 measurement
EFO:0001444	EFO:0004729	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004620	"is a quantification of Vitamin B12,vitamin B12orvitamin B-12, is a water-solublevitaminwith a key role in the normal functioning of thebrainandnervous system, and for the formation ofblood. It is one of the eightB vitamins. It is normally involved in themetabolismof everycellof the human body, especially affectingDNAsynthesis and regulation, but alsofatty acidsynthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis." []	1142752	\N	\N	EFO	3	EFO	measurement	vitamin B12 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004620	"is a quantification of Vitamin B12,vitamin B12orvitamin B-12, is a water-solublevitaminwith a key role in the normal functioning of thebrainandnervous system, and for the formation ofblood. It is one of the eightB vitamins. It is normally involved in themetabolismof everycellof the human body, especially affectingDNAsynthesis and regulation, but alsofatty acidsynthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis." []	2025522	\N	\N	EFO	4	EFO	information entity	vitamin B12 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004620	"is a quantification of Vitamin B12,vitamin B12orvitamin B-12, is a water-solublevitaminwith a key role in the normal functioning of thebrainandnervous system, and for the formation ofblood. It is one of the eightB vitamins. It is normally involved in themetabolismof everycellof the human body, especially affectingDNAsynthesis and regulation, but alsofatty acidsynthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis." []	3178167	\N	\N	EFO	5	EFO	experimental factor	vitamin B12 measurement
EFO:0004621	\N	\N	"is a quantification of Vitamin B6 a water soluble vitamin" []	EFO:0004621	"is a quantification of Vitamin B6 a water soluble vitamin" []	66526	\N	\N	EFO	0	EFO	vitamin B6 measurement	vitamin B6 measurement
EFO:0004843	EFO:0004621	\N	"Is a quantification of any or all of the B vitamins" []	EFO:0004621	"is a quantification of Vitamin B6 a water soluble vitamin" []	207802	\N	\N	EFO	1	EFO	vitamin B measurement	vitamin B6 measurement
EFO:0004729	EFO:0004843	\N	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	EFO:0004621	"is a quantification of Vitamin B6 a water soluble vitamin" []	560951	\N	\N	EFO	2	EFO	vitamin measurement	vitamin B6 measurement
EFO:0001444	EFO:0004729	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004621	"is a quantification of Vitamin B6 a water soluble vitamin" []	1142753	\N	\N	EFO	3	EFO	measurement	vitamin B6 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004621	"is a quantification of Vitamin B6 a water soluble vitamin" []	2025523	\N	\N	EFO	4	EFO	information entity	vitamin B6 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004621	"is a quantification of Vitamin B6 a water soluble vitamin" []	3178168	\N	\N	EFO	5	EFO	experimental factor	vitamin B6 measurement
EFO:0004622	\N	\N	"Is a quantification of sphingolipids - molecules playing a role in signal transmission." []	EFO:0004622	"Is a quantification of sphingolipids - molecules playing a role in signal transmission." []	66527	\N	\N	EFO	0	EFO	sphingolipid measurement	sphingolipid measurement
EFO:0004529	EFO:0004622	\N	"A measure of circulating lipid" []	EFO:0004622	"Is a quantification of sphingolipids - molecules playing a role in signal transmission." []	207803	\N	\N	EFO	1	EFO	lipid measurement	sphingolipid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0004622	"Is a quantification of sphingolipids - molecules playing a role in signal transmission." []	560952	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	sphingolipid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004622	"Is a quantification of sphingolipids - molecules playing a role in signal transmission." []	1142754	\N	\N	EFO	3	EFO	measurement	sphingolipid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004622	"Is a quantification of sphingolipids - molecules playing a role in signal transmission." []	2025524	\N	\N	EFO	4	EFO	information entity	sphingolipid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004622	"Is a quantification of sphingolipids - molecules playing a role in signal transmission." []	3178169	\N	\N	EFO	5	EFO	experimental factor	sphingolipid measurement
EFO:0004623	\N	\N	"is a quantification of circulating fibrinogen  (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation." []	EFO:0004623	"is a quantification of circulating fibrinogen  (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation." []	66528	\N	\N	EFO	0	EFO	fibrinogen measurement	fibrinogen measurement
EFO:0004503	EFO:0004623	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004623	"is a quantification of circulating fibrinogen  (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation." []	207804	\N	\N	EFO	1	EFO	hematological measurement	fibrinogen measurement
EFO:0004634	EFO:0004623	\N	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	EFO:0004623	"is a quantification of circulating fibrinogen  (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation." []	207805	\N	\N	EFO	1	EFO	coagulation factor measurement	fibrinogen measurement
EFO:0004747	EFO:0004623	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004623	"is a quantification of circulating fibrinogen  (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation." []	207806	\N	\N	EFO	1	EFO	protein measurement	fibrinogen measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004623	"is a quantification of circulating fibrinogen  (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation." []	560953	\N	\N	EFO	2	EFO	measurement	fibrinogen measurement
EFO:0001444	EFO:0004634	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004623	"is a quantification of circulating fibrinogen  (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation." []	560954	\N	\N	EFO	2	EFO	measurement	fibrinogen measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004623	"is a quantification of circulating fibrinogen  (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation." []	560955	\N	\N	EFO	2	EFO	measurement	fibrinogen measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004623	"is a quantification of circulating fibrinogen  (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation." []	1142755	\N	\N	EFO	3	EFO	information entity	fibrinogen measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004623	"is a quantification of circulating fibrinogen  (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation." []	2025525	\N	\N	EFO	4	EFO	experimental factor	fibrinogen measurement
EFO:0004624	\N	\N	"A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer." []	EFO:0004624	"A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer." []	66529	\N	\N	EFO	0	EFO	prostate specific antigen measurement	prostate specific antigen measurement
EFO:0005127	EFO:0004624	\N	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	EFO:0004624	"A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer." []	207807	\N	\N	EFO	1	EFO	cancer biomarker measurement	prostate specific antigen measurement
EFO:0001444	EFO:0005127	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004624	"A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer." []	560956	\N	\N	EFO	2	EFO	measurement	prostate specific antigen measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004624	"A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer." []	1142756	\N	\N	EFO	3	EFO	information entity	prostate specific antigen measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004624	"A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer." []	2025526	\N	\N	EFO	4	EFO	experimental factor	prostate specific antigen measurement
EFO:0004625	\N	\N	"A progranulin measurement is a quantification of progranulin, typically in blood. Progranulins are secreted glycosylated peptides implicated in frontotemporal disease, and low levels of progranulin are a risk factor for frontotemporal disease" []	EFO:0004625	"A progranulin measurement is a quantification of progranulin, typically in blood. Progranulins are secreted glycosylated peptides implicated in frontotemporal disease, and low levels of progranulin are a risk factor for frontotemporal disease" []	66530	\N	\N	EFO	0	EFO	progranulin measurement	progranulin measurement
EFO:0001444	EFO:0004625	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004625	"A progranulin measurement is a quantification of progranulin, typically in blood. Progranulins are secreted glycosylated peptides implicated in frontotemporal disease, and low levels of progranulin are a risk factor for frontotemporal disease" []	207808	\N	\N	EFO	1	EFO	measurement	progranulin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004625	"A progranulin measurement is a quantification of progranulin, typically in blood. Progranulins are secreted glycosylated peptides implicated in frontotemporal disease, and low levels of progranulin are a risk factor for frontotemporal disease" []	560957	\N	\N	EFO	2	EFO	information entity	progranulin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004625	"A progranulin measurement is a quantification of progranulin, typically in blood. Progranulins are secreted glycosylated peptides implicated in frontotemporal disease, and low levels of progranulin are a risk factor for frontotemporal disease" []	1142757	\N	\N	EFO	3	EFO	experimental factor	progranulin measurement
EFO:0004626	\N	\N	"Is the quantification of IGFBP-3, a member of  the insulin-like growth factor-binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. Decreased  IIGFBP3 protein levels are used as a biomarker for prostate cancer progression." []	EFO:0004626	"Is the quantification of IGFBP-3, a member of  the insulin-like growth factor-binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. Decreased  IIGFBP3 protein levels are used as a biomarker for prostate cancer progression." []	66531	\N	\N	EFO	0	EFO	IGFBP-3 measurement	IGFBP-3 measurement
EFO:0004747	EFO:0004626	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004626	"Is the quantification of IGFBP-3, a member of  the insulin-like growth factor-binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. Decreased  IIGFBP3 protein levels are used as a biomarker for prostate cancer progression." []	207809	\N	\N	EFO	1	EFO	protein measurement	IGFBP-3 measurement
EFO:0005127	EFO:0004626	\N	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	EFO:0004626	"Is the quantification of IGFBP-3, a member of  the insulin-like growth factor-binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. Decreased  IIGFBP3 protein levels are used as a biomarker for prostate cancer progression." []	207810	\N	\N	EFO	1	EFO	cancer biomarker measurement	IGFBP-3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004626	"Is the quantification of IGFBP-3, a member of  the insulin-like growth factor-binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. Decreased  IIGFBP3 protein levels are used as a biomarker for prostate cancer progression." []	560958	\N	\N	EFO	2	EFO	measurement	IGFBP-3 measurement
EFO:0001444	EFO:0005127	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004626	"Is the quantification of IGFBP-3, a member of  the insulin-like growth factor-binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. Decreased  IIGFBP3 protein levels are used as a biomarker for prostate cancer progression." []	560959	\N	\N	EFO	2	EFO	measurement	IGFBP-3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004626	"Is the quantification of IGFBP-3, a member of  the insulin-like growth factor-binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. Decreased  IIGFBP3 protein levels are used as a biomarker for prostate cancer progression." []	1142758	\N	\N	EFO	3	EFO	information entity	IGFBP-3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004626	"Is the quantification of IGFBP-3, a member of  the insulin-like growth factor-binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. Decreased  IIGFBP3 protein levels are used as a biomarker for prostate cancer progression." []	2025527	\N	\N	EFO	4	EFO	experimental factor	IGFBP-3 measurement
EFO:0004627	\N	\N	"Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers." []	EFO:0004627	"Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers." []	66532	\N	\N	EFO	0	EFO	IGF-1 measurement	IGF-1 measurement
EFO:0004730	EFO:0004627	\N	"" []	EFO:0004627	"Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers." []	207811	\N	\N	EFO	1	EFO	hormone measurement	IGF-1 measurement
EFO:0004747	EFO:0004627	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004627	"Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers." []	207812	\N	\N	EFO	1	EFO	protein measurement	IGF-1 measurement
EFO:0005127	EFO:0004627	\N	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	EFO:0004627	"Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers." []	207813	\N	\N	EFO	1	EFO	cancer biomarker measurement	IGF-1 measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004627	"Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers." []	560960	\N	\N	EFO	2	EFO	measurement	IGF-1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004627	"Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers." []	560961	\N	\N	EFO	2	EFO	measurement	IGF-1 measurement
EFO:0001444	EFO:0005127	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004627	"Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers." []	560962	\N	\N	EFO	2	EFO	measurement	IGF-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004627	"Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers." []	1142759	\N	\N	EFO	3	EFO	information entity	IGF-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004627	"Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers." []	2025528	\N	\N	EFO	4	EFO	experimental factor	IGF-1 measurement
EFO:0004628	\N	\N	"Is a quantification of any of the insulin like growth factors" []	EFO:0004628	"Is a quantification of any of the insulin like growth factors" []	66533	\N	\N	EFO	0	EFO	insulin like growth factor measurement	insulin like growth factor measurement
EFO:0001444	EFO:0004628	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004628	"Is a quantification of any of the insulin like growth factors" []	207814	\N	\N	EFO	1	EFO	measurement	insulin like growth factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004628	"Is a quantification of any of the insulin like growth factors" []	560963	\N	\N	EFO	2	EFO	information entity	insulin like growth factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004628	"Is a quantification of any of the insulin like growth factors" []	1142760	\N	\N	EFO	3	EFO	experimental factor	insulin like growth factor measurement
EFO:0004629	\N	\N	"Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis." []	EFO:0004629	"Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis." []	66534	\N	\N	EFO	0	EFO	von Willebrand factor measurement	von Willebrand factor measurement
EFO:0004503	EFO:0004629	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004629	"Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis." []	207815	\N	\N	EFO	1	EFO	hematological measurement	von Willebrand factor measurement
EFO:0004634	EFO:0004629	\N	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	EFO:0004629	"Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis." []	207816	\N	\N	EFO	1	EFO	coagulation factor measurement	von Willebrand factor measurement
EFO:0004747	EFO:0004629	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004629	"Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis." []	207817	\N	\N	EFO	1	EFO	protein measurement	von Willebrand factor measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004629	"Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis." []	560964	\N	\N	EFO	2	EFO	measurement	von Willebrand factor measurement
EFO:0001444	EFO:0004634	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004629	"Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis." []	560965	\N	\N	EFO	2	EFO	measurement	von Willebrand factor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004629	"Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis." []	560966	\N	\N	EFO	2	EFO	measurement	von Willebrand factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004629	"Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis." []	1142761	\N	\N	EFO	3	EFO	information entity	von Willebrand factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004629	"Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis." []	2025529	\N	\N	EFO	4	EFO	experimental factor	von Willebrand factor measurement
EFO:0004630	\N	\N	"Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A." []	EFO:0004630	"Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A." []	66535	\N	\N	EFO	0	EFO	factor VIII measurement	factor VIII measurement
EFO:0004503	EFO:0004630	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004630	"Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A." []	207818	\N	\N	EFO	1	EFO	hematological measurement	factor VIII measurement
EFO:0004634	EFO:0004630	\N	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	EFO:0004630	"Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A." []	207819	\N	\N	EFO	1	EFO	coagulation factor measurement	factor VIII measurement
EFO:0004747	EFO:0004630	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004630	"Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A." []	207820	\N	\N	EFO	1	EFO	protein measurement	factor VIII measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004630	"Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A." []	560967	\N	\N	EFO	2	EFO	measurement	factor VIII measurement
EFO:0001444	EFO:0004634	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004630	"Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A." []	560968	\N	\N	EFO	2	EFO	measurement	factor VIII measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004630	"Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A." []	560969	\N	\N	EFO	2	EFO	measurement	factor VIII measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004630	"Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A." []	1142762	\N	\N	EFO	3	EFO	information entity	factor VIII measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004630	"Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A." []	2025530	\N	\N	EFO	4	EFO	experimental factor	factor VIII measurement
EFO:0004631	\N	\N	"A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH).\\n25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood." []	EFO:0004631	"A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH).\\n25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood." []	66536	\N	\N	EFO	0	EFO	vitamin D measurement	vitamin D measurement
EFO:0004729	EFO:0004631	\N	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	EFO:0004631	"A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH).\\n25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood." []	207821	\N	\N	EFO	1	EFO	vitamin measurement	vitamin D measurement
EFO:0001444	EFO:0004729	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004631	"A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH).\\n25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood." []	560970	\N	\N	EFO	2	EFO	measurement	vitamin D measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004631	"A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH).\\n25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood." []	1142763	\N	\N	EFO	3	EFO	information entity	vitamin D measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004631	"A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH).\\n25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood." []	2025531	\N	\N	EFO	4	EFO	experimental factor	vitamin D measurement
EFO:0004632	\N	\N	"A nevus count is the quantification of nevi on the skin." []	EFO:0004632	"A nevus count is the quantification of nevi on the skin." []	66537	\N	\N	EFO	0	EFO	nevus count	nevus count
EFO:0001444	EFO:0004632	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004632	"A nevus count is the quantification of nevi on the skin." []	207822	\N	\N	EFO	1	EFO	measurement	nevus count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004632	"A nevus count is the quantification of nevi on the skin." []	560971	\N	\N	EFO	2	EFO	information entity	nevus count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004632	"A nevus count is the quantification of nevi on the skin." []	1142764	\N	\N	EFO	3	EFO	experimental factor	nevus count
EFO:0004633	\N	\N	"Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals." []	EFO:0004633	"Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals." []	66538	\N	\N	EFO	0	EFO	protein C measurement	protein C measurement
EFO:0004503	EFO:0004633	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004633	"Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals." []	207823	\N	\N	EFO	1	EFO	hematological measurement	protein C measurement
EFO:0004634	EFO:0004633	\N	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	EFO:0004633	"Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals." []	207824	\N	\N	EFO	1	EFO	coagulation factor measurement	protein C measurement
EFO:0004813	EFO:0004633	\N	"Is a quantification of any of the alpha globulin class of proteins, typically in serum." []	EFO:0004633	"Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals." []	207825	\N	\N	EFO	1	EFO	alpha globulin measurement	protein C measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004633	"Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals." []	560972	\N	\N	EFO	2	EFO	measurement	protein C measurement
EFO:0001444	EFO:0004634	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004633	"Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals." []	560973	\N	\N	EFO	2	EFO	measurement	protein C measurement
EFO:0004747	EFO:0004813	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004633	"Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals." []	560974	\N	\N	EFO	2	EFO	protein measurement	protein C measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004633	"Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals." []	2025533	\N	\N	EFO	4	EFO	information entity	protein C measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004633	"Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals." []	1142766	\N	\N	EFO	3	EFO	measurement	protein C measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004633	"Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals." []	2999585	\N	\N	EFO	5	EFO	experimental factor	protein C measurement
EFO:0004634	\N	\N	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	EFO:0004634	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	66539	\N	\N	EFO	0	EFO	coagulation factor measurement	coagulation factor measurement
EFO:0001444	EFO:0004634	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004634	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	207826	\N	\N	EFO	1	EFO	measurement	coagulation factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004634	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	560975	\N	\N	EFO	2	EFO	information entity	coagulation factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004634	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	1142767	\N	\N	EFO	3	EFO	experimental factor	coagulation factor measurement
EFO:0004635	\N	\N	"is a quantification of circulating soluble leptin receptor levels, these are inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor. Variations in the leptin receptor gene are reported to be associated with obesity." []	EFO:0004635	"is a quantification of circulating soluble leptin receptor levels, these are inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor. Variations in the leptin receptor gene are reported to be associated with obesity." []	66540	\N	\N	EFO	0	EFO	leptin receptor measurement	leptin receptor measurement
EFO:0004730	EFO:0004635	\N	"" []	EFO:0004635	"is a quantification of circulating soluble leptin receptor levels, these are inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor. Variations in the leptin receptor gene are reported to be associated with obesity." []	207827	\N	\N	EFO	1	EFO	hormone measurement	leptin receptor measurement
EFO:0004747	EFO:0004635	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004635	"is a quantification of circulating soluble leptin receptor levels, these are inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor. Variations in the leptin receptor gene are reported to be associated with obesity." []	207828	\N	\N	EFO	1	EFO	protein measurement	leptin receptor measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004635	"is a quantification of circulating soluble leptin receptor levels, these are inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor. Variations in the leptin receptor gene are reported to be associated with obesity." []	560976	\N	\N	EFO	2	EFO	measurement	leptin receptor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004635	"is a quantification of circulating soluble leptin receptor levels, these are inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor. Variations in the leptin receptor gene are reported to be associated with obesity." []	560977	\N	\N	EFO	2	EFO	measurement	leptin receptor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004635	"is a quantification of circulating soluble leptin receptor levels, these are inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor. Variations in the leptin receptor gene are reported to be associated with obesity." []	1142768	\N	\N	EFO	3	EFO	information entity	leptin receptor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004635	"is a quantification of circulating soluble leptin receptor levels, these are inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor. Variations in the leptin receptor gene are reported to be associated with obesity." []	2025534	\N	\N	EFO	4	EFO	experimental factor	leptin receptor measurement
EFO:0004637	\N	\N	"is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis." []	EFO:0004637	"is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis." []	66541	\N	\N	EFO	0	EFO	protein S measurement	protein S measurement
EFO:0004503	EFO:0004637	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004637	"is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis." []	207829	\N	\N	EFO	1	EFO	hematological measurement	protein S measurement
EFO:0004634	EFO:0004637	\N	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	EFO:0004637	"is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis." []	207830	\N	\N	EFO	1	EFO	coagulation factor measurement	protein S measurement
EFO:0004747	EFO:0004637	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004637	"is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis." []	207831	\N	\N	EFO	1	EFO	protein measurement	protein S measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004637	"is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis." []	560978	\N	\N	EFO	2	EFO	measurement	protein S measurement
EFO:0001444	EFO:0004634	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004637	"is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis." []	560979	\N	\N	EFO	2	EFO	measurement	protein S measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004637	"is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis." []	560980	\N	\N	EFO	2	EFO	measurement	protein S measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004637	"is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis." []	1142769	\N	\N	EFO	3	EFO	information entity	protein S measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004637	"is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis." []	2025535	\N	\N	EFO	4	EFO	experimental factor	protein S measurement
EFO:0004639	\N	\N	"Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies." []	EFO:0004639	"Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies." []	66542	\N	\N	EFO	0	EFO	phospholipid measurement	phospholipid measurement
EFO:0004529	EFO:0004639	\N	"A measure of circulating lipid" []	EFO:0004639	"Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies." []	207832	\N	\N	EFO	1	EFO	lipid measurement	phospholipid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0004639	"Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies." []	560981	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	phospholipid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004639	"Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies." []	1142770	\N	\N	EFO	3	EFO	measurement	phospholipid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004639	"Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies." []	2025536	\N	\N	EFO	4	EFO	information entity	phospholipid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004639	"Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies." []	3178170	\N	\N	EFO	5	EFO	experimental factor	phospholipid measurement
EFO:0004640	\N	\N	"" []	EFO:0004640	"" []	66543	\N	\N	EFO	0	EFO	haptoglobin measurement	haptoglobin measurement
EFO:0004503	EFO:0004640	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004640	"" []	207833	\N	\N	EFO	1	EFO	hematological measurement	haptoglobin measurement
EFO:0004813	EFO:0004640	\N	"Is a quantification of any of the alpha globulin class of proteins, typically in serum." []	EFO:0004640	"" []	207834	\N	\N	EFO	1	EFO	alpha globulin measurement	haptoglobin measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004640	"" []	560982	\N	\N	EFO	2	EFO	measurement	haptoglobin measurement
EFO:0004747	EFO:0004813	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004640	"" []	560983	\N	\N	EFO	2	EFO	protein measurement	haptoglobin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004640	"" []	2025538	\N	\N	EFO	4	EFO	information entity	haptoglobin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004640	"" []	1142772	\N	\N	EFO	3	EFO	measurement	haptoglobin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004640	"" []	2999586	\N	\N	EFO	5	EFO	experimental factor	haptoglobin measurement
EFO:0004641	\N	\N	"White matter integrity is a measure of brain white matter using brain imaging and quantification techniques. White matter integrity is used as a measure of CNS function." []	EFO:0004641	"White matter integrity is a measure of brain white matter using brain imaging and quantification techniques. White matter integrity is used as a measure of CNS function." []	66544	\N	\N	EFO	0	EFO	white matter integrity	white matter integrity
EFO:0004464	EFO:0004641	\N	"" []	EFO:0004641	"White matter integrity is a measure of brain white matter using brain imaging and quantification techniques. White matter integrity is used as a measure of CNS function." []	207835	\N	\N	EFO	1	EFO	brain measurement	white matter integrity
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004641	"White matter integrity is a measure of brain white matter using brain imaging and quantification techniques. White matter integrity is used as a measure of CNS function." []	560984	\N	\N	EFO	2	EFO	measurement	white matter integrity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004641	"White matter integrity is a measure of brain white matter using brain imaging and quantification techniques. White matter integrity is used as a measure of CNS function." []	1142773	\N	\N	EFO	3	EFO	information entity	white matter integrity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004641	"White matter integrity is a measure of brain white matter using brain imaging and quantification techniques. White matter integrity is used as a measure of CNS function." []	2025539	\N	\N	EFO	4	EFO	experimental factor	white matter integrity
EFO:0004642	\N	\N	"iI a quantification of secreted cortisol, typically in the blood. Some studies report increased cortisol in depressive patients." []	EFO:0004642	"iI a quantification of secreted cortisol, typically in the blood. Some studies report increased cortisol in depressive patients." []	66545	\N	\N	EFO	0	EFO	cortisol secretion measurement	cortisol secretion measurement
EFO:0004730	EFO:0004642	\N	"" []	EFO:0004642	"iI a quantification of secreted cortisol, typically in the blood. Some studies report increased cortisol in depressive patients." []	207836	\N	\N	EFO	1	EFO	hormone measurement	cortisol secretion measurement
EFO:0006848	EFO:0004642	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0004642	"iI a quantification of secreted cortisol, typically in the blood. Some studies report increased cortisol in depressive patients." []	207837	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	cortisol secretion measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004642	"iI a quantification of secreted cortisol, typically in the blood. Some studies report increased cortisol in depressive patients." []	560985	\N	\N	EFO	2	EFO	measurement	cortisol secretion measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004642	"iI a quantification of secreted cortisol, typically in the blood. Some studies report increased cortisol in depressive patients." []	560986	\N	\N	EFO	2	EFO	measurement	cortisol secretion measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004642	"iI a quantification of secreted cortisol, typically in the blood. Some studies report increased cortisol in depressive patients." []	1142774	\N	\N	EFO	3	EFO	information entity	cortisol secretion measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004642	"iI a quantification of secreted cortisol, typically in the blood. Some studies report increased cortisol in depressive patients." []	2025540	\N	\N	EFO	4	EFO	experimental factor	cortisol secretion measurement
EFO:0004644	\N	\N	"Is a measurement of the T-peak to T-end (TPE) interval on an electrocardiogram, is a measure of myocardial dispersion of repolarization and is associated with an increased risk of ventricular arrhythmias." []	EFO:0004644	"Is a measurement of the T-peak to T-end (TPE) interval on an electrocardiogram, is a measure of myocardial dispersion of repolarization and is associated with an increased risk of ventricular arrhythmias." []	66546	\N	\N	EFO	0	EFO	TPE interval measurement	TPE interval measurement
EFO:0005278	EFO:0004644	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004644	"Is a measurement of the T-peak to T-end (TPE) interval on an electrocardiogram, is a measure of myocardial dispersion of repolarization and is associated with an increased risk of ventricular arrhythmias." []	207838	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	TPE interval measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004644	"Is a measurement of the T-peak to T-end (TPE) interval on an electrocardiogram, is a measure of myocardial dispersion of repolarization and is associated with an increased risk of ventricular arrhythmias." []	560987	\N	\N	EFO	2	EFO	cardiovascular measurement	TPE interval measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004644	"Is a measurement of the T-peak to T-end (TPE) interval on an electrocardiogram, is a measure of myocardial dispersion of repolarization and is associated with an increased risk of ventricular arrhythmias." []	1142775	\N	\N	EFO	3	EFO	measurement	TPE interval measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004644	"Is a measurement of the T-peak to T-end (TPE) interval on an electrocardiogram, is a measure of myocardial dispersion of repolarization and is associated with an increased risk of ventricular arrhythmias." []	2025541	\N	\N	EFO	4	EFO	information entity	TPE interval measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004644	"Is a measurement of the T-peak to T-end (TPE) interval on an electrocardiogram, is a measure of myocardial dispersion of repolarization and is associated with an increased risk of ventricular arrhythmias." []	3178171	\N	\N	EFO	5	EFO	experimental factor	TPE interval measurement
EFO:0004645	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vaccine. A vaccine is a preparationcontaining substances with antigenic properties administered to activate the immune system, thereby inducing an immune response." []	EFO:0004645	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vaccine. A vaccine is a preparationcontaining substances with antigenic properties administered to activate the immune system, thereby inducing an immune response." []	66547	\N	\N	EFO	0	EFO	response to vaccine	response to vaccine
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0004645	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vaccine. A vaccine is a preparationcontaining substances with antigenic properties administered to activate the immune system, thereby inducing an immune response." []	194673	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to vaccine
EFO:0004647	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platinum based chemotherapy stimulus." []	EFO:0004647	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platinum based chemotherapy stimulus." []	66548	\N	\N	EFO	0	EFO	response to platinum based chemotherapy	response to platinum based chemotherapy
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0004647	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platinum based chemotherapy stimulus." []	194674	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to platinum based chemotherapy
EFO:0004653	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a TNF antagonist." []	EFO:0004653	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a TNF antagonist." []	66549	\N	\N	EFO	0	EFO	response to TNF antagonist	response to TNF antagonist
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0004653	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a TNF antagonist." []	194675	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to TNF antagonist
EFO:0004663	\N	\N	"A processed genotype data file is a data file which stores information about genotypeswhich has been processed by some form of analysis method, for example normalization or noise reduction." []	EFO:0004663	"A processed genotype data file is a data file which stores information about genotypeswhich has been processed by some form of analysis method, for example normalization or noise reduction." []	66550	\N	\N	EFO	0	EFO	processed genotype data file	processed genotype data file
EFO:0004095	EFO:0004663	\N	"A file stored for use on a computer containing data." []	EFO:0004663	"A processed genotype data file is a data file which stores information about genotypeswhich has been processed by some form of analysis method, for example normalization or noise reduction." []	207839	\N	\N	EFO	1	EFO	data file	processed genotype data file
IAO:0000030	EFO:0004095	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004663	"A processed genotype data file is a data file which stores information about genotypeswhich has been processed by some form of analysis method, for example normalization or noise reduction." []	560988	\N	\N	EFO	2	EFO	information entity	processed genotype data file
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004663	"A processed genotype data file is a data file which stores information about genotypeswhich has been processed by some form of analysis method, for example normalization or noise reduction." []	1142776	\N	\N	EFO	3	EFO	experimental factor	processed genotype data file
EFO:0004664	\N	\N	"A binding site identification design type investigates protein binding sites on nucleic acids. Non-exact synonym: ChIP, chromatin immunoprecipitation, chromatin IP." []	EFO:0004664	"A binding site identification design type investigates protein binding sites on nucleic acids. Non-exact synonym: ChIP, chromatin immunoprecipitation, chromatin IP." []	66551	\N	\N	EFO	0	EFO	binding site identification design	binding site identification design
EFO:0004665	EFO:0004664	\N	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	EFO:0004664	"A binding site identification design type investigates protein binding sites on nucleic acids. Non-exact synonym: ChIP, chromatin immunoprecipitation, chromatin IP." []	207840	\N	\N	EFO	1	EFO	biomolecular annotation design	binding site identification design
EFO:0001426	EFO:0004665	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0004664	"A binding site identification design type investigates protein binding sites on nucleic acids. Non-exact synonym: ChIP, chromatin immunoprecipitation, chromatin IP." []	560989	\N	\N	EFO	2	EFO	study design	binding site identification design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004664	"A binding site identification design type investigates protein binding sites on nucleic acids. Non-exact synonym: ChIP, chromatin immunoprecipitation, chromatin IP." []	1142777	\N	\N	EFO	3	EFO	protocol	binding site identification design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004664	"A binding site identification design type investigates protein binding sites on nucleic acids. Non-exact synonym: ChIP, chromatin immunoprecipitation, chromatin IP." []	2025542	\N	\N	EFO	4	EFO	information entity	binding site identification design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004664	"A binding site identification design type investigates protein binding sites on nucleic acids. Non-exact synonym: ChIP, chromatin immunoprecipitation, chromatin IP." []	3178172	\N	\N	EFO	5	EFO	experimental factor	binding site identification design
EFO:0004665	\N	\N	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	EFO:0004665	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	66552	\N	\N	EFO	0	EFO	biomolecular annotation design	biomolecular annotation design
EFO:0001426	EFO:0004665	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0004665	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	207841	\N	\N	EFO	1	EFO	study design	biomolecular annotation design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004665	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	560990	\N	\N	EFO	2	EFO	protocol	biomolecular annotation design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004665	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	1142778	\N	\N	EFO	3	EFO	information entity	biomolecular annotation design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004665	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	2025543	\N	\N	EFO	4	EFO	experimental factor	biomolecular annotation design
EFO:0004666	\N	\N	"A cellular modification design type is where a modification of the transcriptome, proteome (not genome) is made, for example RNAi, antibody targeting." []	EFO:0004666	"A cellular modification design type is where a modification of the transcriptome, proteome (not genome) is made, for example RNAi, antibody targeting." []	66553	\N	\N	EFO	0	EFO	cellular modification design	cellular modification design
EFO:0004667	EFO:0004666	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0004666	"A cellular modification design type is where a modification of the transcriptome, proteome (not genome) is made, for example RNAi, antibody targeting." []	207842	\N	\N	EFO	1	EFO	biological variation design	cellular modification design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0004666	"A cellular modification design type is where a modification of the transcriptome, proteome (not genome) is made, for example RNAi, antibody targeting." []	560991	\N	\N	EFO	2	EFO	study design	cellular modification design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004666	"A cellular modification design type is where a modification of the transcriptome, proteome (not genome) is made, for example RNAi, antibody targeting." []	1142779	\N	\N	EFO	3	EFO	protocol	cellular modification design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004666	"A cellular modification design type is where a modification of the transcriptome, proteome (not genome) is made, for example RNAi, antibody targeting." []	2025544	\N	\N	EFO	4	EFO	information entity	cellular modification design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004666	"A cellular modification design type is where a modification of the transcriptome, proteome (not genome) is made, for example RNAi, antibody targeting." []	3178173	\N	\N	EFO	5	EFO	experimental factor	cellular modification design
EFO:0004667	\N	\N	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	EFO:0004667	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	66554	\N	\N	EFO	0	EFO	biological variation design	biological variation design
EFO:0001426	EFO:0004667	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0004667	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	207843	\N	\N	EFO	1	EFO	study design	biological variation design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004667	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	560992	\N	\N	EFO	2	EFO	protocol	biological variation design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004667	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	1142780	\N	\N	EFO	3	EFO	information entity	biological variation design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004667	"A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s)." []	2025545	\N	\N	EFO	4	EFO	experimental factor	biological variation design
EFO:0004668	\N	\N	"Methodological variation study design specific for array technology" []	EFO:0004668	"Methodological variation study design specific for array technology" []	66555	\N	\N	EFO	0	EFO	array specific design	array specific design
EFO:0004669	EFO:0004668	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0004668	"Methodological variation study design specific for array technology" []	207844	\N	\N	EFO	1	EFO	methodological variation design	array specific design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0004668	"Methodological variation study design specific for array technology" []	560993	\N	\N	EFO	2	EFO	study design	array specific design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004668	"Methodological variation study design specific for array technology" []	1142781	\N	\N	EFO	3	EFO	protocol	array specific design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004668	"Methodological variation study design specific for array technology" []	2025546	\N	\N	EFO	4	EFO	information entity	array specific design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004668	"Methodological variation study design specific for array technology" []	3178174	\N	\N	EFO	5	EFO	experimental factor	array specific design
EFO:0004669	\N	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	EFO:0004669	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	66556	\N	\N	EFO	0	EFO	methodological variation design	methodological variation design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0004669	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	207845	\N	\N	EFO	1	EFO	study design	methodological variation design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004669	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	560994	\N	\N	EFO	2	EFO	protocol	methodological variation design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004669	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	1142782	\N	\N	EFO	3	EFO	information entity	methodological variation design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004669	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	2025547	\N	\N	EFO	4	EFO	experimental factor	methodological variation design
EFO:0004670	\N	\N	"Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease" []	EFO:0004670	"Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease" []	66557	\N	\N	EFO	0	EFO	beta-amyloid 1-42 measurement	beta-amyloid 1-42 measurement
EFO:0004747	EFO:0004670	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004670	"Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease" []	207846	\N	\N	EFO	1	EFO	protein measurement	beta-amyloid 1-42 measurement
EFO:0006514	EFO:0004670	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0004670	"Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease" []	207847	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	beta-amyloid 1-42 measurement
EFO:0006794	EFO:0004670	\N	"A cerebrospinal fluid biomarker measurement is a quantification in cerebrospinal fluid of some molecule e.g. protein or metabolite that acts as a biomarker for some disease, eg Alzheimer's disease" []	EFO:0004670	"Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease" []	207848	\N	\N	EFO	1	EFO	cerebrospinal fluid biomarker measurement	beta-amyloid 1-42 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004670	"Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease" []	560995	\N	\N	EFO	2	EFO	measurement	beta-amyloid 1-42 measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004670	"Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease" []	560996	\N	\N	EFO	2	EFO	measurement	beta-amyloid 1-42 measurement
EFO:0001444	EFO:0006794	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004670	"Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease" []	560997	\N	\N	EFO	2	EFO	measurement	beta-amyloid 1-42 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004670	"Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease" []	1142783	\N	\N	EFO	3	EFO	information entity	beta-amyloid 1-42 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004670	"Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease" []	2025548	\N	\N	EFO	4	EFO	experimental factor	beta-amyloid 1-42 measurement
EFO:0004682	\N	\N	"The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle" []	EFO:0004682	"The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle" []	66558	\N	\N	EFO	0	EFO	QT interval	QT interval
EFO:0000719	EFO:0004682	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004682	"The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle" []	207849	\N	\N	EFO	1	EFO	temporal measurement	QT interval
EFO:0004327	EFO:0004682	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0004682	"The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle" []	207850	\N	\N	EFO	1	EFO	electrocardiography	QT interval
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004682	"The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle" []	560998	\N	\N	EFO	2	EFO	measurement	QT interval
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0004682	"The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle" []	560999	\N	\N	EFO	2	EFO	heart function measurement	QT interval
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004682	"The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle" []	4388093	\N	\N	EFO	6	EFO	information entity	QT interval
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004682	"The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle" []	1142785	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	QT interval
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004682	"The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle" []	5028336	\N	\N	EFO	7	EFO	experimental factor	QT interval
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004682	"The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle" []	2025550	\N	\N	EFO	4	EFO	cardiovascular measurement	QT interval
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004682	"The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle" []	3178175	\N	\N	EFO	5	EFO	measurement	QT interval
EFO:0004683	\N	\N	"A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." []	EFO:0004683	"A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." []	66559	\N	\N	EFO	0	EFO	wet macular degeneration	wet macular degeneration
EFO:0001365	EFO:0004683	\N	"Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." []	EFO:0004683	"A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." []	207851	\N	\N	EFO	1	EFO	age-related macular degeneration	wet macular degeneration
EFO:0001058	EFO:0001365	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0004683	"A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." []	561000	\N	\N	EFO	2	EFO	sensory system disease	wet macular degeneration
EFO:0003966	EFO:0001365	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0004683	"A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." []	561001	\N	\N	EFO	2	EFO	eye disease	wet macular degeneration
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004683	"A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." []	1142786	\N	\N	EFO	3	EFO	nervous system disease	wet macular degeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004683	"A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." []	1142787	\N	\N	EFO	3	EFO	disease	wet macular degeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004683	"A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." []	2025551	\N	\N	EFO	4	EFO	disease	wet macular degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004683	"A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." []	3178176	\N	\N	EFO	5	EFO	disposition	wet macular degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004683	"A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." []	4132664	\N	\N	EFO	6	EFO	material property	wet macular degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004683	"A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." []	5180984	\N	\N	EFO	7	EFO	experimental factor	wet macular degeneration
EFO:0004684	\N	\N	"Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample." []	EFO:0004684	"Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample." []	66560	\N	\N	EFO	0	EFO	tumor necrosis factor-alpha measurement	tumor necrosis factor-alpha measurement
EFO:0004872	EFO:0004684	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004684	"Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample." []	207852	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	tumor necrosis factor-alpha measurement
EFO:0004873	EFO:0004684	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004684	"Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample." []	207853	\N	\N	EFO	1	EFO	cytokine measurement	tumor necrosis factor-alpha measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004684	"Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample." []	561002	\N	\N	EFO	2	EFO	measurement	tumor necrosis factor-alpha measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004684	"Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample." []	561003	\N	\N	EFO	2	EFO	protein measurement	tumor necrosis factor-alpha measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004684	"Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample." []	2025554	\N	\N	EFO	4	EFO	information entity	tumor necrosis factor-alpha measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004684	"Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample." []	1142789	\N	\N	EFO	3	EFO	measurement	tumor necrosis factor-alpha measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004684	"Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample." []	2999587	\N	\N	EFO	5	EFO	experimental factor	tumor necrosis factor-alpha measurement
EFO:0004685	\N	\N	"Measurements of the hip." []	EFO:0004685	"Measurements of the hip." []	66561	\N	\N	EFO	0	EFO	hip geometry	hip geometry
EFO:0004324	EFO:0004685	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004685	"Measurements of the hip." []	207854	\N	\N	EFO	1	EFO	body weights and measures	hip geometry
EFO:0004512	EFO:0004685	\N	"" []	EFO:0004685	"Measurements of the hip." []	207855	\N	\N	EFO	1	EFO	bone measurement	hip geometry
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004685	"Measurements of the hip." []	561004	\N	\N	EFO	2	EFO	anthropometric measurement	hip geometry
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004685	"Measurements of the hip." []	561005	\N	\N	EFO	2	EFO	measurement	hip geometry
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004685	"Measurements of the hip." []	1142790	\N	\N	EFO	3	EFO	measurement	hip geometry
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004685	"Measurements of the hip." []	2025555	\N	\N	EFO	4	EFO	information entity	hip geometry
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004685	"Measurements of the hip." []	2999588	\N	\N	EFO	5	EFO	experimental factor	hip geometry
EFO:0004686	\N	\N	"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." []	EFO:0004686	"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." []	66562	\N	\N	EFO	0	EFO	non-compaction cardiomyopathy	non-compaction cardiomyopathy
EFO:0000318	EFO:0004686	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:0004686	"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." []	207856	\N	\N	EFO	1	EFO	cardiomyopathy	non-compaction cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0004686	"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." []	561006	\N	\N	EFO	2	EFO	heart disease	non-compaction cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004686	"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." []	1142792	\N	\N	EFO	3	EFO	cardiovascular disease	non-compaction cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004686	"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." []	2025557	\N	\N	EFO	4	EFO	disease	non-compaction cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004686	"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." []	3178178	\N	\N	EFO	5	EFO	disposition	non-compaction cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004686	"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." []	4388095	\N	\N	EFO	6	EFO	material property	non-compaction cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004686	"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." []	5408755	\N	\N	EFO	7	EFO	experimental factor	non-compaction cardiomyopathy
EFO:0004694	\N	\N	"Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation." []	EFO:0004694	"Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation." []	66563	\N	\N	EFO	0	EFO	factor XI measurement	factor XI measurement
EFO:0004503	EFO:0004694	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004694	"Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation." []	207857	\N	\N	EFO	1	EFO	hematological measurement	factor XI measurement
EFO:0004634	EFO:0004694	\N	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	EFO:0004694	"Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation." []	207858	\N	\N	EFO	1	EFO	coagulation factor measurement	factor XI measurement
EFO:0004747	EFO:0004694	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004694	"Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation." []	207859	\N	\N	EFO	1	EFO	protein measurement	factor XI measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004694	"Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation." []	561007	\N	\N	EFO	2	EFO	measurement	factor XI measurement
EFO:0001444	EFO:0004634	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004694	"Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation." []	561008	\N	\N	EFO	2	EFO	measurement	factor XI measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004694	"Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation." []	561009	\N	\N	EFO	2	EFO	measurement	factor XI measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004694	"Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation." []	1142793	\N	\N	EFO	3	EFO	information entity	factor XI measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004694	"Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation." []	2025558	\N	\N	EFO	4	EFO	experimental factor	factor XI measurement
EFO:0004695	\N	\N	"Is a quantification of intraocular pressure. Increased intraocular pressure is a heritable risk factor for primary open angle glaucoma." []	EFO:0004695	"Is a quantification of intraocular pressure. Increased intraocular pressure is a heritable risk factor for primary open angle glaucoma." []	66564	\N	\N	EFO	0	EFO	intraocular pressure measurement	intraocular pressure measurement
EFO:0004731	EFO:0004695	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0004695	"Is a quantification of intraocular pressure. Increased intraocular pressure is a heritable risk factor for primary open angle glaucoma." []	207860	\N	\N	EFO	1	EFO	eye measurement	intraocular pressure measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004695	"Is a quantification of intraocular pressure. Increased intraocular pressure is a heritable risk factor for primary open angle glaucoma." []	561010	\N	\N	EFO	2	EFO	measurement	intraocular pressure measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004695	"Is a quantification of intraocular pressure. Increased intraocular pressure is a heritable risk factor for primary open angle glaucoma." []	1142794	\N	\N	EFO	3	EFO	information entity	intraocular pressure measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004695	"Is a quantification of intraocular pressure. Increased intraocular pressure is a heritable risk factor for primary open angle glaucoma." []	2025559	\N	\N	EFO	4	EFO	experimental factor	intraocular pressure measurement
EFO:0004696	\N	\N	"Is a quantification of sex hormone binding globulin. In men the test is used in when investigating testosterone deficiency.  The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SGBG may be implicated in breast cancer etiology." []	EFO:0004696	"Is a quantification of sex hormone binding globulin. In men the test is used in when investigating testosterone deficiency.  The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SGBG may be implicated in breast cancer etiology." []	66565	\N	\N	EFO	0	EFO	sex hormone globulin binding measurement	sex hormone globulin binding measurement
EFO:0004555	EFO:0004696	\N	"Is the quantification of some glycoprotein." []	EFO:0004696	"Is a quantification of sex hormone binding globulin. In men the test is used in when investigating testosterone deficiency.  The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SGBG may be implicated in breast cancer etiology." []	207861	\N	\N	EFO	1	EFO	glycoprotein measurement	sex hormone globulin binding measurement
EFO:0004730	EFO:0004696	\N	"" []	EFO:0004696	"Is a quantification of sex hormone binding globulin. In men the test is used in when investigating testosterone deficiency.  The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SGBG may be implicated in breast cancer etiology." []	207862	\N	\N	EFO	1	EFO	hormone measurement	sex hormone globulin binding measurement
EFO:0004747	EFO:0004555	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004696	"Is a quantification of sex hormone binding globulin. In men the test is used in when investigating testosterone deficiency.  The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SGBG may be implicated in breast cancer etiology." []	561011	\N	\N	EFO	2	EFO	protein measurement	sex hormone globulin binding measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004696	"Is a quantification of sex hormone binding globulin. In men the test is used in when investigating testosterone deficiency.  The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SGBG may be implicated in breast cancer etiology." []	561012	\N	\N	EFO	2	EFO	measurement	sex hormone globulin binding measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004696	"Is a quantification of sex hormone binding globulin. In men the test is used in when investigating testosterone deficiency.  The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SGBG may be implicated in breast cancer etiology." []	1142795	\N	\N	EFO	3	EFO	measurement	sex hormone globulin binding measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004696	"Is a quantification of sex hormone binding globulin. In men the test is used in when investigating testosterone deficiency.  The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SGBG may be implicated in breast cancer etiology." []	2025560	\N	\N	EFO	4	EFO	information entity	sex hormone globulin binding measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004696	"Is a quantification of sex hormone binding globulin. In men the test is used in when investigating testosterone deficiency.  The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SGBG may be implicated in breast cancer etiology." []	2999589	\N	\N	EFO	5	EFO	experimental factor	sex hormone globulin binding measurement
EFO:0004697	\N	\N	"Is a quantification of circulating estradiol a circulating steriod sex hormone." []	EFO:0004697	"Is a quantification of circulating estradiol a circulating steriod sex hormone." []	66566	\N	\N	EFO	0	EFO	estradiol measurement	estradiol measurement
EFO:0004730	EFO:0004697	\N	"" []	EFO:0004697	"Is a quantification of circulating estradiol a circulating steriod sex hormone." []	207863	\N	\N	EFO	1	EFO	hormone measurement	estradiol measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004697	"Is a quantification of circulating estradiol a circulating steriod sex hormone." []	561013	\N	\N	EFO	2	EFO	measurement	estradiol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004697	"Is a quantification of circulating estradiol a circulating steriod sex hormone." []	1142797	\N	\N	EFO	3	EFO	information entity	estradiol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004697	"Is a quantification of circulating estradiol a circulating steriod sex hormone." []	2025562	\N	\N	EFO	4	EFO	experimental factor	estradiol measurement
EFO:0004698	\N	\N	"Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition" []	EFO:0004698	"Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition" []	66567	\N	\N	EFO	0	EFO	insomnia	insomnia
EFO:0000677	EFO:0004698	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004698	"Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition" []	207864	\N	\N	EFO	1	EFO	mental or behavioural disorder	insomnia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004698	"Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition" []	561014	\N	\N	EFO	2	EFO	brain disease	insomnia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004698	"Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition" []	1142798	\N	\N	EFO	3	EFO	nervous system disease	insomnia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004698	"Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition" []	2025563	\N	\N	EFO	4	EFO	disease	insomnia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004698	"Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition" []	3178179	\N	\N	EFO	5	EFO	disposition	insomnia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004698	"Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition" []	4388096	\N	\N	EFO	6	EFO	material property	insomnia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004698	"Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition" []	5408756	\N	\N	EFO	7	EFO	experimental factor	insomnia
EFO:0004699	\N	\N	"An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money." []	EFO:0004699	"An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money." []	66568	\N	\N	EFO	0	EFO	gambling behaviour	gambling behaviour
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0004699	"An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money." []	194676	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	gambling behaviour
EFO:0004701	\N	\N	"A drug dependence that is a psychological dependency on the regular use of metamphetamine." []	EFO:0004701	"A drug dependence that is a psychological dependency on the regular use of metamphetamine." []	66569	\N	\N	EFO	0	EFO	metamphetamine dependence	metamphetamine dependence
EFO:0003890	EFO:0004701	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0004701	"A drug dependence that is a psychological dependency on the regular use of metamphetamine." []	207865	\N	\N	EFO	1	EFO	drug dependence	metamphetamine dependence
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004701	"A drug dependence that is a psychological dependency on the regular use of metamphetamine." []	561015	\N	\N	EFO	2	EFO	mental or behavioural disorder	metamphetamine dependence
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004701	"A drug dependence that is a psychological dependency on the regular use of metamphetamine." []	1142799	\N	\N	EFO	3	EFO	brain disease	metamphetamine dependence
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004701	"A drug dependence that is a psychological dependency on the regular use of metamphetamine." []	2025564	\N	\N	EFO	4	EFO	nervous system disease	metamphetamine dependence
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004701	"A drug dependence that is a psychological dependency on the regular use of metamphetamine." []	3178180	\N	\N	EFO	5	EFO	disease	metamphetamine dependence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004701	"A drug dependence that is a psychological dependency on the regular use of metamphetamine." []	4388097	\N	\N	EFO	6	EFO	disposition	metamphetamine dependence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004701	"A drug dependence that is a psychological dependency on the regular use of metamphetamine." []	5408757	\N	\N	EFO	7	EFO	material property	metamphetamine dependence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004701	"A drug dependence that is a psychological dependency on the regular use of metamphetamine." []	6147490	\N	\N	EFO	8	EFO	experimental factor	metamphetamine dependence
EFO:0004703	\N	\N	"The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual" []	EFO:0004703	"The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual" []	66570	\N	\N	EFO	0	EFO	age at menarche	age at menarche
EFO:0000246	EFO:0004703	\N	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	EFO:0004703	"The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual" []	207866	\N	\N	EFO	1	EFO	age	age at menarche
EFO:0000719	EFO:0000246	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004703	"The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual" []	561016	\N	\N	EFO	2	EFO	temporal measurement	age at menarche
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004703	"The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual" []	1142800	\N	\N	EFO	3	EFO	measurement	age at menarche
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004703	"The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual" []	2025565	\N	\N	EFO	4	EFO	information entity	age at menarche
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004703	"The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual" []	3178181	\N	\N	EFO	5	EFO	experimental factor	age at menarche
EFO:0004704	\N	\N	"The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual" []	EFO:0004704	"The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual" []	66571	\N	\N	EFO	0	EFO	age at menopause	age at menopause
EFO:0000246	EFO:0004704	\N	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	EFO:0004704	"The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual" []	207867	\N	\N	EFO	1	EFO	age	age at menopause
EFO:0000719	EFO:0000246	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004704	"The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual" []	561017	\N	\N	EFO	2	EFO	temporal measurement	age at menopause
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004704	"The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual" []	1142801	\N	\N	EFO	3	EFO	measurement	age at menopause
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004704	"The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual" []	2025566	\N	\N	EFO	4	EFO	information entity	age at menopause
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004704	"The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual" []	3178182	\N	\N	EFO	5	EFO	experimental factor	age at menopause
EFO:0004705	\N	\N	"A deficiency of thyroid hormone." []	EFO:0004705	"A deficiency of thyroid hormone." []	66572	\N	\N	EFO	0	EFO	hypothyroidism	hypothyroidism
EFO:1000627	EFO:0004705	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:0004705	"A deficiency of thyroid hormone." []	207868	\N	\N	EFO	1	EFO	thyroid disease	hypothyroidism
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0004705	"A deficiency of thyroid hormone." []	561018	\N	\N	EFO	2	EFO	endocrine system disease	hypothyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004705	"A deficiency of thyroid hormone." []	1142802	\N	\N	EFO	3	EFO	disease	hypothyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004705	"A deficiency of thyroid hormone." []	2025567	\N	\N	EFO	4	EFO	disposition	hypothyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004705	"A deficiency of thyroid hormone." []	3178183	\N	\N	EFO	5	EFO	material property	hypothyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004705	"A deficiency of thyroid hormone." []	4388098	\N	\N	EFO	6	EFO	experimental factor	hypothyroidism
EFO:0004707	\N	\N	"This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition." []	EFO:0004707	"This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition." []	66573	\N	\N	EFO	0	EFO	infantile hypertrophic pyloric stenosis	infantile hypertrophic pyloric stenosis
EFO:0000405	EFO:0004707	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0004707	"This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition." []	207869	\N	\N	EFO	1	EFO	digestive system disease	infantile hypertrophic pyloric stenosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004707	"This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition." []	561019	\N	\N	EFO	2	EFO	disease	infantile hypertrophic pyloric stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004707	"This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition." []	1142803	\N	\N	EFO	3	EFO	disposition	infantile hypertrophic pyloric stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004707	"This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition." []	2025568	\N	\N	EFO	4	EFO	material property	infantile hypertrophic pyloric stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004707	"This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition." []	3178184	\N	\N	EFO	5	EFO	experimental factor	infantile hypertrophic pyloric stenosis
EFO:0004708	\N	\N	"A distinct, highly heritable Hodgkin lymphoma subtype." []	EFO:0004708	"A distinct, highly heritable Hodgkin lymphoma subtype." []	66574	\N	\N	EFO	0	EFO	nodular sclerosis Hodgkin lymphoma	nodular sclerosis Hodgkin lymphoma
EFO:0000183	EFO:0004708	\N	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	EFO:0004708	"A distinct, highly heritable Hodgkin lymphoma subtype." []	207870	\N	\N	EFO	1	EFO	Hodgkins lymphoma	nodular sclerosis Hodgkin lymphoma
EFO:0000574	EFO:0000183	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:0004708	"A distinct, highly heritable Hodgkin lymphoma subtype." []	561020	\N	\N	EFO	2	EFO	lymphoma	nodular sclerosis Hodgkin lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0004708	"A distinct, highly heritable Hodgkin lymphoma subtype." []	1142804	\N	\N	EFO	3	EFO	lymphoid neoplasm	nodular sclerosis Hodgkin lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0004708	"A distinct, highly heritable Hodgkin lymphoma subtype." []	2025569	\N	\N	EFO	4	EFO	cancer	nodular sclerosis Hodgkin lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0004708	"A distinct, highly heritable Hodgkin lymphoma subtype." []	2025570	\N	\N	EFO	4	EFO	hematological system disease	nodular sclerosis Hodgkin lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004708	"A distinct, highly heritable Hodgkin lymphoma subtype." []	3178185	\N	\N	EFO	5	EFO	neoplasm	nodular sclerosis Hodgkin lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004708	"A distinct, highly heritable Hodgkin lymphoma subtype." []	3178186	\N	\N	EFO	5	EFO	disease	nodular sclerosis Hodgkin lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004708	"A distinct, highly heritable Hodgkin lymphoma subtype." []	4388099	\N	\N	EFO	6	EFO	disease	nodular sclerosis Hodgkin lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004708	"A distinct, highly heritable Hodgkin lymphoma subtype." []	5408758	\N	\N	EFO	7	EFO	disposition	nodular sclerosis Hodgkin lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004708	"A distinct, highly heritable Hodgkin lymphoma subtype." []	5996600	\N	\N	EFO	8	EFO	material property	nodular sclerosis Hodgkin lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004708	"A distinct, highly heritable Hodgkin lymphoma subtype." []	6550376	\N	\N	EFO	9	EFO	experimental factor	nodular sclerosis Hodgkin lymphoma
EFO:0004710	\N	\N	"Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines." []	EFO:0004710	"Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines." []	66575	\N	\N	EFO	0	EFO	pelvic organ prolapse	pelvic organ prolapse
EFO:0000512	EFO:0004710	\N	"any diease of the reproductive system" []	EFO:0004710	"Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines." []	207871	\N	\N	EFO	1	EFO	reproductive system disease	pelvic organ prolapse
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004710	"Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines." []	561021	\N	\N	EFO	2	EFO	disease	pelvic organ prolapse
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004710	"Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines." []	1142805	\N	\N	EFO	3	EFO	disposition	pelvic organ prolapse
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004710	"Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines." []	2025571	\N	\N	EFO	4	EFO	material property	pelvic organ prolapse
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004710	"Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines." []	3178187	\N	\N	EFO	5	EFO	experimental factor	pelvic organ prolapse
EFO:0004711	\N	\N	"Elephantiasis is a  result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the hosts immune response, and the numerous opportunistic infections and disorders that arise." []	EFO:0004711	"Elephantiasis is a  result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the hosts immune response, and the numerous opportunistic infections and disorders that arise." []	66576	\N	\N	EFO	0	EFO	elephantiasis	elephantiasis
EFO:0000540	EFO:0004711	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004711	"Elephantiasis is a  result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the hosts immune response, and the numerous opportunistic infections and disorders that arise." []	207872	\N	\N	EFO	1	EFO	immune system disease	elephantiasis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004711	"Elephantiasis is a  result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the hosts immune response, and the numerous opportunistic infections and disorders that arise." []	561022	\N	\N	EFO	2	EFO	disease	elephantiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004711	"Elephantiasis is a  result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the hosts immune response, and the numerous opportunistic infections and disorders that arise." []	1142806	\N	\N	EFO	3	EFO	disposition	elephantiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004711	"Elephantiasis is a  result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the hosts immune response, and the numerous opportunistic infections and disorders that arise." []	2025572	\N	\N	EFO	4	EFO	material property	elephantiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004711	"Elephantiasis is a  result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the hosts immune response, and the numerous opportunistic infections and disorders that arise." []	3178188	\N	\N	EFO	5	EFO	experimental factor	elephantiasis
EFO:0004712	\N	\N	"A form of elephantiasis in which no parasitic infection is detected." []	EFO:0004712	"A form of elephantiasis in which no parasitic infection is detected." []	66577	\N	\N	EFO	0	EFO	podoconiosis	podoconiosis
EFO:0004711	EFO:0004712	\N	"Elephantiasis is a  result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the hosts immune response, and the numerous opportunistic infections and disorders that arise." []	EFO:0004712	"A form of elephantiasis in which no parasitic infection is detected." []	207873	\N	\N	EFO	1	EFO	elephantiasis	podoconiosis
EFO:0000540	EFO:0004711	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004712	"A form of elephantiasis in which no parasitic infection is detected." []	561023	\N	\N	EFO	2	EFO	immune system disease	podoconiosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004712	"A form of elephantiasis in which no parasitic infection is detected." []	1142807	\N	\N	EFO	3	EFO	disease	podoconiosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004712	"A form of elephantiasis in which no parasitic infection is detected." []	2025573	\N	\N	EFO	4	EFO	disposition	podoconiosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004712	"A form of elephantiasis in which no parasitic infection is detected." []	3178189	\N	\N	EFO	5	EFO	material property	podoconiosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004712	"A form of elephantiasis in which no parasitic infection is detected." []	4388101	\N	\N	EFO	6	EFO	experimental factor	podoconiosis
EFO:0004713	\N	\N	"" []	EFO:0004713	"" []	66578	\N	\N	EFO	0	EFO	FEV/FEC ratio	FEV/FEC ratio
EFO:0003892	EFO:0004713	\N	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	EFO:0004713	"" []	207874	\N	\N	EFO	1	EFO	pulmonary function measurement	FEV/FEC ratio
EFO:0006841	EFO:0004713	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0004713	"" []	207875	\N	\N	EFO	1	EFO	respiratory disease biomarker	FEV/FEC ratio
EFO:0001444	EFO:0003892	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004713	"" []	561024	\N	\N	EFO	2	EFO	measurement	FEV/FEC ratio
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004713	"" []	561025	\N	\N	EFO	2	EFO	measurement	FEV/FEC ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004713	"" []	1142808	\N	\N	EFO	3	EFO	information entity	FEV/FEC ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004713	"" []	2025574	\N	\N	EFO	4	EFO	experimental factor	FEV/FEC ratio
EFO:0004714	\N	\N	"Disturbances in sexual desire and the psychophysiologic changes that characterize the sexual response cycle and cause marked distress and interpersonal difficulty." []	EFO:0004714	"Disturbances in sexual desire and the psychophysiologic changes that characterize the sexual response cycle and cause marked distress and interpersonal difficulty." []	66579	\N	\N	EFO	0	EFO	sexual dysfunction	sexual dysfunction
HP:0000708	\N	\N	"An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson]	EFO:0004714	"Disturbances in sexual desire and the psychophysiologic changes that characterize the sexual response cycle and cause marked distress and interpersonal difficulty." []	194677	\N	\N	EFO	0	EFO	Behavioral abnormality	sexual dysfunction
EFO:0004715	\N	\N	"An infarct detected by MRI and not determined to be clinically significant" []	EFO:0004715	"An infarct detected by MRI and not determined to be clinically significant" []	66580	\N	\N	EFO	0	EFO	MRI defined brain infarct	MRI defined brain infarct
EFO:0004277	EFO:0004715	\N	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	EFO:0004715	"An infarct detected by MRI and not determined to be clinically significant" []	207876	\N	\N	EFO	1	EFO	brain infarction	MRI defined brain infarct
EFO:0003763	EFO:0004277	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0004715	"An infarct detected by MRI and not determined to be clinically significant" []	561026	\N	\N	EFO	2	EFO	cerebrovascular disorder	MRI defined brain infarct
EFO:0005774	EFO:0004277	\N	"A disease affecting the brain or part of the brain." []	EFO:0004715	"An infarct detected by MRI and not determined to be clinically significant" []	561027	\N	\N	EFO	2	EFO	brain disease	MRI defined brain infarct
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0004715	"An infarct detected by MRI and not determined to be clinically significant" []	1142809	\N	\N	EFO	3	EFO	vascular disease	MRI defined brain infarct
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004715	"An infarct detected by MRI and not determined to be clinically significant" []	1142810	\N	\N	EFO	3	EFO	nervous system disease	MRI defined brain infarct
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004715	"An infarct detected by MRI and not determined to be clinically significant" []	2025575	\N	\N	EFO	4	EFO	cardiovascular disease	MRI defined brain infarct
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004715	"An infarct detected by MRI and not determined to be clinically significant" []	2025576	\N	\N	EFO	4	EFO	disease	MRI defined brain infarct
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004715	"An infarct detected by MRI and not determined to be clinically significant" []	3178190	\N	\N	EFO	5	EFO	disease	MRI defined brain infarct
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004715	"An infarct detected by MRI and not determined to be clinically significant" []	4388102	\N	\N	EFO	6	EFO	disposition	MRI defined brain infarct
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004715	"An infarct detected by MRI and not determined to be clinically significant" []	5180985	\N	\N	EFO	7	EFO	material property	MRI defined brain infarct
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004715	"An infarct detected by MRI and not determined to be clinically significant" []	5996601	\N	\N	EFO	8	EFO	experimental factor	MRI defined brain infarct
EFO:0004718	\N	\N	"An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)" []	EFO:0004718	"An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)" []	66581	\N	\N	EFO	0	EFO	vascular dementia	vascular dementia
EFO:0000618	EFO:0004718	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004718	"An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)" []	207877	\N	\N	EFO	1	EFO	nervous system disease	vascular dementia
EFO:0003763	EFO:0004718	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0004718	"An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)" []	207878	\N	\N	EFO	1	EFO	cerebrovascular disorder	vascular dementia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004718	"An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)" []	561028	\N	\N	EFO	2	EFO	disease	vascular dementia
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0004718	"An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)" []	561029	\N	\N	EFO	2	EFO	vascular disease	vascular dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004718	"An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)" []	3178193	\N	\N	EFO	5	EFO	disposition	vascular dementia
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004718	"An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)" []	1142812	\N	\N	EFO	3	EFO	cardiovascular disease	vascular dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004718	"An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)" []	4066713	\N	\N	EFO	6	EFO	material property	vascular dementia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004718	"An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)" []	2025578	\N	\N	EFO	4	EFO	disease	vascular dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004718	"An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)" []	5059351	\N	\N	EFO	7	EFO	experimental factor	vascular dementia
EFO:0004719	\N	\N	"An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes." []	EFO:0004719	"An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes." []	66582	\N	\N	EFO	0	EFO	pemphigus vulgaris	pemphigus vulgaris
EFO:0005140	EFO:0004719	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0004719	"An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes." []	207879	\N	\N	EFO	1	EFO	autoimmune disease	pemphigus vulgaris
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004719	"An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes." []	561030	\N	\N	EFO	2	EFO	immune system disease	pemphigus vulgaris
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004719	"An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes." []	1142813	\N	\N	EFO	3	EFO	disease	pemphigus vulgaris
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004719	"An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes." []	2025579	\N	\N	EFO	4	EFO	disposition	pemphigus vulgaris
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004719	"An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes." []	3178194	\N	\N	EFO	5	EFO	material property	pemphigus vulgaris
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004719	"An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes." []	4388104	\N	\N	EFO	6	EFO	experimental factor	pemphigus vulgaris
EFO:0004720	\N	\N	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	EFO:0004720	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	66583	\N	\N	EFO	0	EFO	prion disease	prion disease
EFO:0000618	EFO:0004720	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004720	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	207880	\N	\N	EFO	1	EFO	nervous system disease	prion disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004720	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	561031	\N	\N	EFO	2	EFO	disease	prion disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004720	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	1142814	\N	\N	EFO	3	EFO	disposition	prion disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004720	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	2025580	\N	\N	EFO	4	EFO	material property	prion disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004720	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	3178195	\N	\N	EFO	5	EFO	experimental factor	prion disease
EFO:0004723	\N	\N	"Calcification of the coronary artery, used as a measure of coronary atherosclerosis, a risk factor for myocardial infarction." []	EFO:0004723	"Calcification of the coronary artery, used as a measure of coronary atherosclerosis, a risk factor for myocardial infarction." []	66584	\N	\N	EFO	0	EFO	coronary artery calcification	coronary artery calcification
HP:0001626	\N	\N	"Any abnormality of the cardiovascular system." [HPO:probinson]	EFO:0004723	"Calcification of the coronary artery, used as a measure of coronary atherosclerosis, a risk factor for myocardial infarction." []	194678	\N	\N	EFO	0	EFO	Abnormality of the cardiovascular system	coronary artery calcification
EFO:0004724	\N	\N	"Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events." []	EFO:0004724	"Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events." []	66585	\N	\N	EFO	0	EFO	carotid-femoral pulse wave velocity	carotid-femoral pulse wave velocity
EFO:0005278	EFO:0004724	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004724	"Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events." []	207881	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	carotid-femoral pulse wave velocity
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004724	"Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events." []	561032	\N	\N	EFO	2	EFO	cardiovascular measurement	carotid-femoral pulse wave velocity
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004724	"Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events." []	1142815	\N	\N	EFO	3	EFO	measurement	carotid-femoral pulse wave velocity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004724	"Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events." []	2025581	\N	\N	EFO	4	EFO	information entity	carotid-femoral pulse wave velocity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004724	"Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events." []	3178196	\N	\N	EFO	5	EFO	experimental factor	carotid-femoral pulse wave velocity
EFO:0004725	\N	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0004725	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	66586	\N	\N	EFO	0	EFO	metabolite measurement	metabolite measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004725	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	207882	\N	\N	EFO	1	EFO	measurement	metabolite measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004725	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	561033	\N	\N	EFO	2	EFO	information entity	metabolite measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004725	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	1142816	\N	\N	EFO	3	EFO	experimental factor	metabolite measurement
EFO:0004727	\N	\N	"Any intermediate or product resulting from metabolism." []	EFO:0004727	"Any intermediate or product resulting from metabolism." []	66587	\N	\N	EFO	0	EFO	metabolite	metabolite
CHEBI:37577	EFO:0004727	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0004727	"Any intermediate or product resulting from metabolism." []	207883	\N	\N	EFO	1	EFO	chemical compound	metabolite
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0004727	"Any intermediate or product resulting from metabolism." []	561034	\N	\N	EFO	2	EFO	chemical entity	metabolite
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004727	"Any intermediate or product resulting from metabolism." []	1142817	\N	\N	EFO	3	EFO	material entity	metabolite
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004727	"Any intermediate or product resulting from metabolism." []	2025582	\N	\N	EFO	4	EFO	experimental factor	metabolite
EFO:0004728	\N	\N	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	EFO:0004728	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	66588	\N	\N	EFO	0	EFO	serum amyloid A protein measurement	serum amyloid A protein measurement
EFO:0004732	EFO:0004728	\N	"Is the quantification of some lipoprotein" []	EFO:0004728	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	207884	\N	\N	EFO	1	EFO	lipoprotein measurement	serum amyloid A protein measurement
EFO:0004813	EFO:0004728	\N	"Is a quantification of any of the alpha globulin class of proteins, typically in serum." []	EFO:0004728	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	207885	\N	\N	EFO	1	EFO	alpha globulin measurement	serum amyloid A protein measurement
EFO:0004872	EFO:0004728	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004728	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	207886	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	serum amyloid A protein measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004728	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	561035	\N	\N	EFO	2	EFO	protein measurement	serum amyloid A protein measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0004728	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	561036	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	serum amyloid A protein measurement
EFO:0004747	EFO:0004813	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004728	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	561037	\N	\N	EFO	2	EFO	protein measurement	serum amyloid A protein measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004728	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	561038	\N	\N	EFO	2	EFO	measurement	serum amyloid A protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004728	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	1142818	\N	\N	EFO	3	EFO	measurement	serum amyloid A protein measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004728	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	1142819	\N	\N	EFO	3	EFO	measurement	serum amyloid A protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004728	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	2025583	\N	\N	EFO	4	EFO	information entity	serum amyloid A protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004728	"Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs)." []	2999590	\N	\N	EFO	5	EFO	experimental factor	serum amyloid A protein measurement
EFO:0004729	\N	\N	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	EFO:0004729	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	66589	\N	\N	EFO	0	EFO	vitamin measurement	vitamin measurement
EFO:0001444	EFO:0004729	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004729	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	207887	\N	\N	EFO	1	EFO	measurement	vitamin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004729	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	561039	\N	\N	EFO	2	EFO	information entity	vitamin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004729	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	1142821	\N	\N	EFO	3	EFO	experimental factor	vitamin measurement
EFO:0004730	\N	\N	"" []	EFO:0004730	"" []	66590	\N	\N	EFO	0	EFO	hormone measurement	hormone measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004730	"" []	207888	\N	\N	EFO	1	EFO	measurement	hormone measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004730	"" []	561040	\N	\N	EFO	2	EFO	information entity	hormone measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004730	"" []	1142822	\N	\N	EFO	3	EFO	experimental factor	hormone measurement
EFO:0004731	\N	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0004731	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	66591	\N	\N	EFO	0	EFO	eye measurement	eye measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004731	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	207889	\N	\N	EFO	1	EFO	measurement	eye measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004731	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	561041	\N	\N	EFO	2	EFO	information entity	eye measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004731	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	1142823	\N	\N	EFO	3	EFO	experimental factor	eye measurement
EFO:0004732	\N	\N	"Is the quantification of some lipoprotein" []	EFO:0004732	"Is the quantification of some lipoprotein" []	66592	\N	\N	EFO	0	EFO	lipoprotein measurement	lipoprotein measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004732	"Is the quantification of some lipoprotein" []	207890	\N	\N	EFO	1	EFO	protein measurement	lipoprotein measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0004732	"Is the quantification of some lipoprotein" []	207891	\N	\N	EFO	1	EFO	lipid or lipoprotein measurement	lipoprotein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004732	"Is the quantification of some lipoprotein" []	561042	\N	\N	EFO	2	EFO	measurement	lipoprotein measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004732	"Is the quantification of some lipoprotein" []	561043	\N	\N	EFO	2	EFO	measurement	lipoprotein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004732	"Is the quantification of some lipoprotein" []	1142824	\N	\N	EFO	3	EFO	information entity	lipoprotein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004732	"Is the quantification of some lipoprotein" []	2025585	\N	\N	EFO	4	EFO	experimental factor	lipoprotein measurement
EFO:0004733	\N	\N	"Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis." []	EFO:0004733	"Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis." []	66593	\N	\N	EFO	0	EFO	anti-cyclic citrullinated peptide antibody measurement	anti-cyclic citrullinated peptide antibody measurement
EFO:0004556	EFO:0004733	\N	"Is the quantification of some antibody" []	EFO:0004733	"Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis." []	207892	\N	\N	EFO	1	EFO	antibody measurement	anti-cyclic citrullinated peptide antibody measurement
EFO:0004747	EFO:0004733	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004733	"Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis." []	207893	\N	\N	EFO	1	EFO	protein measurement	anti-cyclic citrullinated peptide antibody measurement
EFO:0006846	EFO:0004733	\N	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	EFO:0004733	"Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis." []	207894	\N	\N	EFO	1	EFO	autoimmune disease biomarker	anti-cyclic citrullinated peptide antibody measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004733	"Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis." []	561044	\N	\N	EFO	2	EFO	measurement	anti-cyclic citrullinated peptide antibody measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004733	"Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis." []	561045	\N	\N	EFO	2	EFO	measurement	anti-cyclic citrullinated peptide antibody measurement
EFO:0001444	EFO:0006846	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004733	"Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis." []	561046	\N	\N	EFO	2	EFO	measurement	anti-cyclic citrullinated peptide antibody measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004733	"Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis." []	1142825	\N	\N	EFO	3	EFO	information entity	anti-cyclic citrullinated peptide antibody measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004733	"Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis." []	2025586	\N	\N	EFO	4	EFO	experimental factor	anti-cyclic citrullinated peptide antibody measurement
EFO:0004735	\N	\N	"Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function." []	EFO:0004735	"Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function." []	66594	\N	\N	EFO	0	EFO	serum alanine aminotransferase measurement	serum alanine aminotransferase measurement
EFO:0004582	EFO:0004735	\N	"A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." []	EFO:0004735	"Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function." []	207895	\N	\N	EFO	1	EFO	liver enzyme measurement	serum alanine aminotransferase measurement
EFO:0004747	EFO:0004735	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004735	"Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function." []	207896	\N	\N	EFO	1	EFO	protein measurement	serum alanine aminotransferase measurement
EFO:0006845	EFO:0004735	\N	"The quantification of biomarkers used in the diagnosis or management of liver disease" []	EFO:0004735	"Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function." []	207897	\N	\N	EFO	1	EFO	liver disease biomarker	serum alanine aminotransferase measurement
EFO:0001444	EFO:0004582	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004735	"Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function." []	561047	\N	\N	EFO	2	EFO	measurement	serum alanine aminotransferase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004735	"Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function." []	561048	\N	\N	EFO	2	EFO	measurement	serum alanine aminotransferase measurement
EFO:0001444	EFO:0006845	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004735	"Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function." []	561049	\N	\N	EFO	2	EFO	measurement	serum alanine aminotransferase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004735	"Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function." []	1142826	\N	\N	EFO	3	EFO	information entity	serum alanine aminotransferase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004735	"Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function." []	2025587	\N	\N	EFO	4	EFO	experimental factor	serum alanine aminotransferase measurement
EFO:0004736	\N	\N	"Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function." []	EFO:0004736	"Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function." []	66595	\N	\N	EFO	0	EFO	aspartate aminotransferase measurement	aspartate aminotransferase measurement
EFO:0004582	EFO:0004736	\N	"A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." []	EFO:0004736	"Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function." []	207898	\N	\N	EFO	1	EFO	liver enzyme measurement	aspartate aminotransferase measurement
EFO:0004747	EFO:0004736	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004736	"Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function." []	207899	\N	\N	EFO	1	EFO	protein measurement	aspartate aminotransferase measurement
EFO:0006845	EFO:0004736	\N	"The quantification of biomarkers used in the diagnosis or management of liver disease" []	EFO:0004736	"Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function." []	207900	\N	\N	EFO	1	EFO	liver disease biomarker	aspartate aminotransferase measurement
EFO:0001444	EFO:0004582	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004736	"Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function." []	561050	\N	\N	EFO	2	EFO	measurement	aspartate aminotransferase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004736	"Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function." []	561051	\N	\N	EFO	2	EFO	measurement	aspartate aminotransferase measurement
EFO:0001444	EFO:0006845	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004736	"Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function." []	561052	\N	\N	EFO	2	EFO	measurement	aspartate aminotransferase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004736	"Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function." []	1142827	\N	\N	EFO	3	EFO	information entity	aspartate aminotransferase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004736	"Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function." []	2025588	\N	\N	EFO	4	EFO	experimental factor	aspartate aminotransferase measurement
EFO:0004737	\N	\N	"Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations." []	EFO:0004737	"Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations." []	66596	\N	\N	EFO	0	EFO	carotenoid measurement	carotenoid measurement
EFO:0001444	EFO:0004737	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004737	"Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations." []	207901	\N	\N	EFO	1	EFO	measurement	carotenoid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004737	"Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations." []	561053	\N	\N	EFO	2	EFO	information entity	carotenoid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004737	"Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations." []	1142828	\N	\N	EFO	3	EFO	experimental factor	carotenoid measurement
EFO:0004738	\N	\N	"Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that  tocotrienols also have vitamin E function)." []	EFO:0004738	"Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that  tocotrienols also have vitamin E function)." []	66597	\N	\N	EFO	0	EFO	tocopherol measurement	tocopherol measurement
EFO:0004867	EFO:0004738	\N	"Is a quantification of vitamin E." []	EFO:0004738	"Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that  tocotrienols also have vitamin E function)." []	207902	\N	\N	EFO	1	EFO	vitamin E measurement	tocopherol measurement
EFO:0004729	EFO:0004867	\N	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	EFO:0004738	"Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that  tocotrienols also have vitamin E function)." []	561054	\N	\N	EFO	2	EFO	vitamin measurement	tocopherol measurement
EFO:0001444	EFO:0004729	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004738	"Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that  tocotrienols also have vitamin E function)." []	1142829	\N	\N	EFO	3	EFO	measurement	tocopherol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004738	"Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that  tocotrienols also have vitamin E function)." []	2025589	\N	\N	EFO	4	EFO	information entity	tocopherol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004738	"Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that  tocotrienols also have vitamin E function)." []	3178197	\N	\N	EFO	5	EFO	experimental factor	tocopherol measurement
EFO:0004739	\N	\N	"Is a quantification of circulating cell free DNA measured in blood used as an indicator of cell death and as an indicator of disease, for example some tumour types release this." []	EFO:0004739	"Is a quantification of circulating cell free DNA measured in blood used as an indicator of cell death and as an indicator of disease, for example some tumour types release this." []	66598	\N	\N	EFO	0	EFO	circulating cell free DNA measurement	circulating cell free DNA measurement
EFO:0005127	EFO:0004739	\N	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	EFO:0004739	"Is a quantification of circulating cell free DNA measured in blood used as an indicator of cell death and as an indicator of disease, for example some tumour types release this." []	207903	\N	\N	EFO	1	EFO	cancer biomarker measurement	circulating cell free DNA measurement
EFO:0001444	EFO:0005127	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004739	"Is a quantification of circulating cell free DNA measured in blood used as an indicator of cell death and as an indicator of disease, for example some tumour types release this." []	561055	\N	\N	EFO	2	EFO	measurement	circulating cell free DNA measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004739	"Is a quantification of circulating cell free DNA measured in blood used as an indicator of cell death and as an indicator of disease, for example some tumour types release this." []	1142830	\N	\N	EFO	3	EFO	information entity	circulating cell free DNA measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004739	"Is a quantification of circulating cell free DNA measured in blood used as an indicator of cell death and as an indicator of disease, for example some tumour types release this." []	2025590	\N	\N	EFO	4	EFO	experimental factor	circulating cell free DNA measurement
EFO:0004741	\N	\N	"Is a quantification of blood urea nitrogen used in the measure of renal function." []	EFO:0004741	"Is a quantification of blood urea nitrogen used in the measure of renal function." []	66599	\N	\N	EFO	0	EFO	blood urea nitrogen measurement	blood urea nitrogen measurement
EFO:0004742	EFO:0004741	\N	"Is a quantification of some renal system biomarker" []	EFO:0004741	"Is a quantification of blood urea nitrogen used in the measure of renal function." []	207904	\N	\N	EFO	1	EFO	renal system measurement	blood urea nitrogen measurement
EFO:0001444	EFO:0004742	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004741	"Is a quantification of blood urea nitrogen used in the measure of renal function." []	561056	\N	\N	EFO	2	EFO	measurement	blood urea nitrogen measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004741	"Is a quantification of blood urea nitrogen used in the measure of renal function." []	1142831	\N	\N	EFO	3	EFO	information entity	blood urea nitrogen measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004741	"Is a quantification of blood urea nitrogen used in the measure of renal function." []	2025591	\N	\N	EFO	4	EFO	experimental factor	blood urea nitrogen measurement
EFO:0004742	\N	\N	"Is a quantification of some renal system biomarker" []	EFO:0004742	"Is a quantification of some renal system biomarker" []	66600	\N	\N	EFO	0	EFO	renal system measurement	renal system measurement
EFO:0001444	EFO:0004742	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004742	"Is a quantification of some renal system biomarker" []	207905	\N	\N	EFO	1	EFO	measurement	renal system measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004742	"Is a quantification of some renal system biomarker" []	561057	\N	\N	EFO	2	EFO	information entity	renal system measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004742	"Is a quantification of some renal system biomarker" []	1142832	\N	\N	EFO	3	EFO	experimental factor	renal system measurement
EFO:0004743	\N	\N	"Any measurable or observable characteristic related to the shape, structure, color or pattern of the region of the body that includes the front part of the head from the chin to the top of the forehead, where the mouth, eyes, nose, and other features are located." []	EFO:0004743	"Any measurable or observable characteristic related to the shape, structure, color or pattern of the region of the body that includes the front part of the head from the chin to the top of the forehead, where the mouth, eyes, nose, and other features are located." []	66601	\N	\N	EFO	0	EFO	facial morphology	facial morphology
EFO:0000651	EFO:0004743	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0004743	"Any measurable or observable characteristic related to the shape, structure, color or pattern of the region of the body that includes the front part of the head from the chin to the top of the forehead, where the mouth, eyes, nose, and other features are located." []	207906	\N	\N	EFO	1	EFO	phenotype	facial morphology
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004743	"Any measurable or observable characteristic related to the shape, structure, color or pattern of the region of the body that includes the front part of the head from the chin to the top of the forehead, where the mouth, eyes, nose, and other features are located." []	561058	\N	\N	EFO	2	EFO	quality	facial morphology
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004743	"Any measurable or observable characteristic related to the shape, structure, color or pattern of the region of the body that includes the front part of the head from the chin to the top of the forehead, where the mouth, eyes, nose, and other features are located." []	1142833	\N	\N	EFO	3	EFO	material property	facial morphology
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004743	"Any measurable or observable characteristic related to the shape, structure, color or pattern of the region of the body that includes the front part of the head from the chin to the top of the forehead, where the mouth, eyes, nose, and other features are located." []	2025592	\N	\N	EFO	4	EFO	experimental factor	facial morphology
EFO:0004744	\N	\N	"Is a quantification of matrix metalloproteinases, Collectively, they are capable of degrading all kinds of extracellular matrix proteins, but also can process a number of bioactive molecules. They are known to be involved in the cleavage of cell surface receptors, the release of apoptotic ligands (such as the FAS ligand), and chemokine/cytokine in/activation.[3] MMPs are also thought to play a major role on cell behaviors such as cell proliferation, migration (adhesion/dispersion), differentiation, angiogenesis, apoptosis, and host defense." []	EFO:0004744	"Is a quantification of matrix metalloproteinases, Collectively, they are capable of degrading all kinds of extracellular matrix proteins, but also can process a number of bioactive molecules. They are known to be involved in the cleavage of cell surface receptors, the release of apoptotic ligands (such as the FAS ligand), and chemokine/cytokine in/activation.[3] MMPs are also thought to play a major role on cell behaviors such as cell proliferation, migration (adhesion/dispersion), differentiation, angiogenesis, apoptosis, and host defense." []	66602	\N	\N	EFO	0	EFO	matrix metalloproteinase measurement	matrix metalloproteinase measurement
EFO:0004747	EFO:0004744	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004744	"Is a quantification of matrix metalloproteinases, Collectively, they are capable of degrading all kinds of extracellular matrix proteins, but also can process a number of bioactive molecules. They are known to be involved in the cleavage of cell surface receptors, the release of apoptotic ligands (such as the FAS ligand), and chemokine/cytokine in/activation.[3] MMPs are also thought to play a major role on cell behaviors such as cell proliferation, migration (adhesion/dispersion), differentiation, angiogenesis, apoptosis, and host defense." []	207907	\N	\N	EFO	1	EFO	protein measurement	matrix metalloproteinase measurement
EFO:0006514	EFO:0004744	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0004744	"Is a quantification of matrix metalloproteinases, Collectively, they are capable of degrading all kinds of extracellular matrix proteins, but also can process a number of bioactive molecules. They are known to be involved in the cleavage of cell surface receptors, the release of apoptotic ligands (such as the FAS ligand), and chemokine/cytokine in/activation.[3] MMPs are also thought to play a major role on cell behaviors such as cell proliferation, migration (adhesion/dispersion), differentiation, angiogenesis, apoptosis, and host defense." []	207908	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	matrix metalloproteinase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004744	"Is a quantification of matrix metalloproteinases, Collectively, they are capable of degrading all kinds of extracellular matrix proteins, but also can process a number of bioactive molecules. They are known to be involved in the cleavage of cell surface receptors, the release of apoptotic ligands (such as the FAS ligand), and chemokine/cytokine in/activation.[3] MMPs are also thought to play a major role on cell behaviors such as cell proliferation, migration (adhesion/dispersion), differentiation, angiogenesis, apoptosis, and host defense." []	561059	\N	\N	EFO	2	EFO	measurement	matrix metalloproteinase measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004744	"Is a quantification of matrix metalloproteinases, Collectively, they are capable of degrading all kinds of extracellular matrix proteins, but also can process a number of bioactive molecules. They are known to be involved in the cleavage of cell surface receptors, the release of apoptotic ligands (such as the FAS ligand), and chemokine/cytokine in/activation.[3] MMPs are also thought to play a major role on cell behaviors such as cell proliferation, migration (adhesion/dispersion), differentiation, angiogenesis, apoptosis, and host defense." []	561060	\N	\N	EFO	2	EFO	measurement	matrix metalloproteinase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004744	"Is a quantification of matrix metalloproteinases, Collectively, they are capable of degrading all kinds of extracellular matrix proteins, but also can process a number of bioactive molecules. They are known to be involved in the cleavage of cell surface receptors, the release of apoptotic ligands (such as the FAS ligand), and chemokine/cytokine in/activation.[3] MMPs are also thought to play a major role on cell behaviors such as cell proliferation, migration (adhesion/dispersion), differentiation, angiogenesis, apoptosis, and host defense." []	1142834	\N	\N	EFO	3	EFO	information entity	matrix metalloproteinase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004744	"Is a quantification of matrix metalloproteinases, Collectively, they are capable of degrading all kinds of extracellular matrix proteins, but also can process a number of bioactive molecules. They are known to be involved in the cleavage of cell surface receptors, the release of apoptotic ligands (such as the FAS ligand), and chemokine/cytokine in/activation.[3] MMPs are also thought to play a major role on cell behaviors such as cell proliferation, migration (adhesion/dispersion), differentiation, angiogenesis, apoptosis, and host defense." []	2025593	\N	\N	EFO	4	EFO	experimental factor	matrix metalloproteinase measurement
EFO:0004745	\N	\N	"Is a quantification of NT-proBNP (N-terminal prohormone of brain natriuretic peptide) which is associated with acute congestive heart failure." []	EFO:0004745	"Is a quantification of NT-proBNP (N-terminal prohormone of brain natriuretic peptide) which is associated with acute congestive heart failure." []	66603	\N	\N	EFO	0	EFO	NT-proBNP measurement	NT-proBNP measurement
EFO:0004747	EFO:0004745	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004745	"Is a quantification of NT-proBNP (N-terminal prohormone of brain natriuretic peptide) which is associated with acute congestive heart failure." []	207909	\N	\N	EFO	1	EFO	protein measurement	NT-proBNP measurement
EFO:0005278	EFO:0004745	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004745	"Is a quantification of NT-proBNP (N-terminal prohormone of brain natriuretic peptide) which is associated with acute congestive heart failure." []	207910	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	NT-proBNP measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004745	"Is a quantification of NT-proBNP (N-terminal prohormone of brain natriuretic peptide) which is associated with acute congestive heart failure." []	561061	\N	\N	EFO	2	EFO	measurement	NT-proBNP measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004745	"Is a quantification of NT-proBNP (N-terminal prohormone of brain natriuretic peptide) which is associated with acute congestive heart failure." []	561062	\N	\N	EFO	2	EFO	cardiovascular measurement	NT-proBNP measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004745	"Is a quantification of NT-proBNP (N-terminal prohormone of brain natriuretic peptide) which is associated with acute congestive heart failure." []	2025595	\N	\N	EFO	4	EFO	information entity	NT-proBNP measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004745	"Is a quantification of NT-proBNP (N-terminal prohormone of brain natriuretic peptide) which is associated with acute congestive heart failure." []	1142836	\N	\N	EFO	3	EFO	measurement	NT-proBNP measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004745	"Is a quantification of NT-proBNP (N-terminal prohormone of brain natriuretic peptide) which is associated with acute congestive heart failure." []	2999591	\N	\N	EFO	5	EFO	experimental factor	NT-proBNP measurement
EFO:0004746	\N	\N	"Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." []	EFO:0004746	"Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." []	66604	\N	\N	EFO	0	EFO	lipoprotein-associated phospholipase A(2) measurement	lipoprotein-associated phospholipase A(2) measurement
EFO:0004732	EFO:0004746	\N	"Is the quantification of some lipoprotein" []	EFO:0004746	"Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." []	207911	\N	\N	EFO	1	EFO	lipoprotein measurement	lipoprotein-associated phospholipase A(2) measurement
EFO:0005278	EFO:0004746	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004746	"Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." []	207912	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	lipoprotein-associated phospholipase A(2) measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004746	"Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." []	561063	\N	\N	EFO	2	EFO	protein measurement	lipoprotein-associated phospholipase A(2) measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0004746	"Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." []	561064	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	lipoprotein-associated phospholipase A(2) measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004746	"Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." []	561065	\N	\N	EFO	2	EFO	cardiovascular measurement	lipoprotein-associated phospholipase A(2) measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004746	"Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." []	1142837	\N	\N	EFO	3	EFO	measurement	lipoprotein-associated phospholipase A(2) measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004746	"Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." []	1142838	\N	\N	EFO	3	EFO	measurement	lipoprotein-associated phospholipase A(2) measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004746	"Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." []	1142839	\N	\N	EFO	3	EFO	measurement	lipoprotein-associated phospholipase A(2) measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004746	"Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." []	2025596	\N	\N	EFO	4	EFO	information entity	lipoprotein-associated phospholipase A(2) measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004746	"Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker." []	3178198	\N	\N	EFO	5	EFO	experimental factor	lipoprotein-associated phospholipase A(2) measurement
EFO:0004747	\N	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004747	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	66605	\N	\N	EFO	0	EFO	protein measurement	protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004747	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	207913	\N	\N	EFO	1	EFO	measurement	protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004747	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	561066	\N	\N	EFO	2	EFO	information entity	protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004747	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	1142840	\N	\N	EFO	3	EFO	experimental factor	protein measurement
EFO:0004748	\N	\N	"Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid." []	EFO:0004748	"Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid." []	66606	\N	\N	EFO	0	EFO	thyroid stimulating hormone measurement	thyroid stimulating hormone measurement
EFO:0004730	EFO:0004748	\N	"" []	EFO:0004748	"Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid." []	207914	\N	\N	EFO	1	EFO	hormone measurement	thyroid stimulating hormone measurement
EFO:0004747	EFO:0004748	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004748	"Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid." []	207915	\N	\N	EFO	1	EFO	protein measurement	thyroid stimulating hormone measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004748	"Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid." []	561067	\N	\N	EFO	2	EFO	measurement	thyroid stimulating hormone measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004748	"Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid." []	561068	\N	\N	EFO	2	EFO	measurement	thyroid stimulating hormone measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004748	"Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid." []	1142841	\N	\N	EFO	3	EFO	information entity	thyroid stimulating hormone measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004748	"Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid." []	2025597	\N	\N	EFO	4	EFO	experimental factor	thyroid stimulating hormone measurement
EFO:0004749	\N	\N	"Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation. Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis.\\nCCL2 is reported to be associated with Alzheimer's disease e.g. http://www.ncbi.nlm.nih.gov/pubmed/22303443 and http://europepmc.org/abstract/MED/25340798" []	EFO:0004749	"Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation. Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis.\\nCCL2 is reported to be associated with Alzheimer's disease e.g. http://www.ncbi.nlm.nih.gov/pubmed/22303443 and http://europepmc.org/abstract/MED/25340798" []	66607	\N	\N	EFO	0	EFO	CCL2 measurement	CCL2 measurement
EFO:0004873	EFO:0004749	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004749	"Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation. Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis.\\nCCL2 is reported to be associated with Alzheimer's disease e.g. http://www.ncbi.nlm.nih.gov/pubmed/22303443 and http://europepmc.org/abstract/MED/25340798" []	207916	\N	\N	EFO	1	EFO	cytokine measurement	CCL2 measurement
EFO:0006514	EFO:0004749	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0004749	"Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation. Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis.\\nCCL2 is reported to be associated with Alzheimer's disease e.g. http://www.ncbi.nlm.nih.gov/pubmed/22303443 and http://europepmc.org/abstract/MED/25340798" []	207917	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	CCL2 measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004749	"Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation. Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis.\\nCCL2 is reported to be associated with Alzheimer's disease e.g. http://www.ncbi.nlm.nih.gov/pubmed/22303443 and http://europepmc.org/abstract/MED/25340798" []	561069	\N	\N	EFO	2	EFO	protein measurement	CCL2 measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004749	"Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation. Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis.\\nCCL2 is reported to be associated with Alzheimer's disease e.g. http://www.ncbi.nlm.nih.gov/pubmed/22303443 and http://europepmc.org/abstract/MED/25340798" []	561070	\N	\N	EFO	2	EFO	measurement	CCL2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004749	"Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation. Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis.\\nCCL2 is reported to be associated with Alzheimer's disease e.g. http://www.ncbi.nlm.nih.gov/pubmed/22303443 and http://europepmc.org/abstract/MED/25340798" []	1142842	\N	\N	EFO	3	EFO	measurement	CCL2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004749	"Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation. Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis.\\nCCL2 is reported to be associated with Alzheimer's disease e.g. http://www.ncbi.nlm.nih.gov/pubmed/22303443 and http://europepmc.org/abstract/MED/25340798" []	2025598	\N	\N	EFO	4	EFO	information entity	CCL2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004749	"Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation. Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis.\\nCCL2 is reported to be associated with Alzheimer's disease e.g. http://www.ncbi.nlm.nih.gov/pubmed/22303443 and http://europepmc.org/abstract/MED/25340798" []	2999592	\N	\N	EFO	5	EFO	experimental factor	CCL2 measurement
EFO:0004750	\N	\N	"Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells." []	EFO:0004750	"Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells." []	66608	\N	\N	EFO	0	EFO	interleukin 10 measurement	interleukin 10 measurement
EFO:0004872	EFO:0004750	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004750	"Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells." []	207918	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	interleukin 10 measurement
EFO:0004873	EFO:0004750	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004750	"Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells." []	207919	\N	\N	EFO	1	EFO	cytokine measurement	interleukin 10 measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004750	"Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells." []	561071	\N	\N	EFO	2	EFO	measurement	interleukin 10 measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004750	"Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells." []	561072	\N	\N	EFO	2	EFO	protein measurement	interleukin 10 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004750	"Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells." []	2025601	\N	\N	EFO	4	EFO	information entity	interleukin 10 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004750	"Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells." []	1142845	\N	\N	EFO	3	EFO	measurement	interleukin 10 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004750	"Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells." []	2999593	\N	\N	EFO	5	EFO	experimental factor	interleukin 10 measurement
EFO:0004751	\N	\N	"Is the quantification of Chemokine (C-C motif) ligand 4, involved in response to infection and inflammation,  chemoattractant for natural killer cells, monocytes and a variety of other immune cells." []	EFO:0004751	"Is the quantification of Chemokine (C-C motif) ligand 4, involved in response to infection and inflammation,  chemoattractant for natural killer cells, monocytes and a variety of other immune cells." []	66609	\N	\N	EFO	0	EFO	CCL4 measurement	CCL4 measurement
EFO:0004873	EFO:0004751	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004751	"Is the quantification of Chemokine (C-C motif) ligand 4, involved in response to infection and inflammation,  chemoattractant for natural killer cells, monocytes and a variety of other immune cells." []	207920	\N	\N	EFO	1	EFO	cytokine measurement	CCL4 measurement
EFO:0006514	EFO:0004751	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0004751	"Is the quantification of Chemokine (C-C motif) ligand 4, involved in response to infection and inflammation,  chemoattractant for natural killer cells, monocytes and a variety of other immune cells." []	207921	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	CCL4 measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004751	"Is the quantification of Chemokine (C-C motif) ligand 4, involved in response to infection and inflammation,  chemoattractant for natural killer cells, monocytes and a variety of other immune cells." []	561073	\N	\N	EFO	2	EFO	protein measurement	CCL4 measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004751	"Is the quantification of Chemokine (C-C motif) ligand 4, involved in response to infection and inflammation,  chemoattractant for natural killer cells, monocytes and a variety of other immune cells." []	561074	\N	\N	EFO	2	EFO	measurement	CCL4 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004751	"Is the quantification of Chemokine (C-C motif) ligand 4, involved in response to infection and inflammation,  chemoattractant for natural killer cells, monocytes and a variety of other immune cells." []	1142846	\N	\N	EFO	3	EFO	measurement	CCL4 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004751	"Is the quantification of Chemokine (C-C motif) ligand 4, involved in response to infection and inflammation,  chemoattractant for natural killer cells, monocytes and a variety of other immune cells." []	2025602	\N	\N	EFO	4	EFO	information entity	CCL4 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004751	"Is the quantification of Chemokine (C-C motif) ligand 4, involved in response to infection and inflammation,  chemoattractant for natural killer cells, monocytes and a variety of other immune cells." []	2999594	\N	\N	EFO	5	EFO	experimental factor	CCL4 measurement
EFO:0004752	\N	\N	"Is the quantification of parathyroid hormone, typically in blood. The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH) (RefSeq), High level s of parathyroid hormone are also used in the diagnostics for hypo and hyper calcemia, primary and secondary hyper parathyroidism. Low values are used in the diagnostics of hypoparathyroidism." []	EFO:0004752	"Is the quantification of parathyroid hormone, typically in blood. The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH) (RefSeq), High level s of parathyroid hormone are also used in the diagnostics for hypo and hyper calcemia, primary and secondary hyper parathyroidism. Low values are used in the diagnostics of hypoparathyroidism." []	66610	\N	\N	EFO	0	EFO	parathyroid hormone measurement	parathyroid hormone measurement
EFO:0004730	EFO:0004752	\N	"" []	EFO:0004752	"Is the quantification of parathyroid hormone, typically in blood. The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH) (RefSeq), High level s of parathyroid hormone are also used in the diagnostics for hypo and hyper calcemia, primary and secondary hyper parathyroidism. Low values are used in the diagnostics of hypoparathyroidism." []	207922	\N	\N	EFO	1	EFO	hormone measurement	parathyroid hormone measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004752	"Is the quantification of parathyroid hormone, typically in blood. The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH) (RefSeq), High level s of parathyroid hormone are also used in the diagnostics for hypo and hyper calcemia, primary and secondary hyper parathyroidism. Low values are used in the diagnostics of hypoparathyroidism." []	561075	\N	\N	EFO	2	EFO	measurement	parathyroid hormone measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004752	"Is the quantification of parathyroid hormone, typically in blood. The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH) (RefSeq), High level s of parathyroid hormone are also used in the diagnostics for hypo and hyper calcemia, primary and secondary hyper parathyroidism. Low values are used in the diagnostics of hypoparathyroidism." []	1142848	\N	\N	EFO	3	EFO	information entity	parathyroid hormone measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004752	"Is the quantification of parathyroid hormone, typically in blood. The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH) (RefSeq), High level s of parathyroid hormone are also used in the diagnostics for hypo and hyper calcemia, primary and secondary hyper parathyroidism. Low values are used in the diagnostics of hypoparathyroidism." []	2025604	\N	\N	EFO	4	EFO	experimental factor	parathyroid hormone measurement
EFO:0004753	\N	\N	"Is a quantification of interleukin 12. Interleukin 12 (IL-12) is an interleukin that is naturally produced by dendritic cells, macrophages and human B-lymphoblastoid cells (NC-37) in response to antigenic stimulation." []	EFO:0004753	"Is a quantification of interleukin 12. Interleukin 12 (IL-12) is an interleukin that is naturally produced by dendritic cells, macrophages and human B-lymphoblastoid cells (NC-37) in response to antigenic stimulation." []	66611	\N	\N	EFO	0	EFO	interleukin 12 measurement	interleukin 12 measurement
EFO:0004873	EFO:0004753	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004753	"Is a quantification of interleukin 12. Interleukin 12 (IL-12) is an interleukin that is naturally produced by dendritic cells, macrophages and human B-lymphoblastoid cells (NC-37) in response to antigenic stimulation." []	207923	\N	\N	EFO	1	EFO	cytokine measurement	interleukin 12 measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004753	"Is a quantification of interleukin 12. Interleukin 12 (IL-12) is an interleukin that is naturally produced by dendritic cells, macrophages and human B-lymphoblastoid cells (NC-37) in response to antigenic stimulation." []	561076	\N	\N	EFO	2	EFO	protein measurement	interleukin 12 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004753	"Is a quantification of interleukin 12. Interleukin 12 (IL-12) is an interleukin that is naturally produced by dendritic cells, macrophages and human B-lymphoblastoid cells (NC-37) in response to antigenic stimulation." []	1142849	\N	\N	EFO	3	EFO	measurement	interleukin 12 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004753	"Is a quantification of interleukin 12. Interleukin 12 (IL-12) is an interleukin that is naturally produced by dendritic cells, macrophages and human B-lymphoblastoid cells (NC-37) in response to antigenic stimulation." []	2025605	\N	\N	EFO	4	EFO	information entity	interleukin 12 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004753	"Is a quantification of interleukin 12. Interleukin 12 (IL-12) is an interleukin that is naturally produced by dendritic cells, macrophages and human B-lymphoblastoid cells (NC-37) in response to antigenic stimulation." []	3178199	\N	\N	EFO	5	EFO	experimental factor	interleukin 12 measurement
EFO:0004754	\N	\N	"Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure" []	EFO:0004754	"Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure" []	66612	\N	\N	EFO	0	EFO	interleukin 1 receptor antagonist measurement	interleukin 1 receptor antagonist measurement
EFO:0004872	EFO:0004754	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004754	"Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure" []	207924	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	interleukin 1 receptor antagonist measurement
EFO:0004873	EFO:0004754	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004754	"Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure" []	207925	\N	\N	EFO	1	EFO	cytokine measurement	interleukin 1 receptor antagonist measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004754	"Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure" []	561077	\N	\N	EFO	2	EFO	measurement	interleukin 1 receptor antagonist measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004754	"Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure" []	561078	\N	\N	EFO	2	EFO	protein measurement	interleukin 1 receptor antagonist measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004754	"Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure" []	2025607	\N	\N	EFO	4	EFO	information entity	interleukin 1 receptor antagonist measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004754	"Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure" []	1142851	\N	\N	EFO	3	EFO	measurement	interleukin 1 receptor antagonist measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004754	"Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure" []	2999595	\N	\N	EFO	5	EFO	experimental factor	interleukin 1 receptor antagonist measurement
EFO:0004760	\N	\N	"Is a quantification of total tau protein, a biomarker for Alzheimer's disease." []	EFO:0004760	"Is a quantification of total tau protein, a biomarker for Alzheimer's disease." []	66613	\N	\N	EFO	0	EFO	t-tau measurement	t-tau measurement
EFO:0004747	EFO:0004760	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004760	"Is a quantification of total tau protein, a biomarker for Alzheimer's disease." []	207926	\N	\N	EFO	1	EFO	protein measurement	t-tau measurement
EFO:0006514	EFO:0004760	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0004760	"Is a quantification of total tau protein, a biomarker for Alzheimer's disease." []	207927	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	t-tau measurement
EFO:0006794	EFO:0004760	\N	"A cerebrospinal fluid biomarker measurement is a quantification in cerebrospinal fluid of some molecule e.g. protein or metabolite that acts as a biomarker for some disease, eg Alzheimer's disease" []	EFO:0004760	"Is a quantification of total tau protein, a biomarker for Alzheimer's disease." []	207928	\N	\N	EFO	1	EFO	cerebrospinal fluid biomarker measurement	t-tau measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004760	"Is a quantification of total tau protein, a biomarker for Alzheimer's disease." []	561079	\N	\N	EFO	2	EFO	measurement	t-tau measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004760	"Is a quantification of total tau protein, a biomarker for Alzheimer's disease." []	561080	\N	\N	EFO	2	EFO	measurement	t-tau measurement
EFO:0001444	EFO:0006794	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004760	"Is a quantification of total tau protein, a biomarker for Alzheimer's disease." []	561081	\N	\N	EFO	2	EFO	measurement	t-tau measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004760	"Is a quantification of total tau protein, a biomarker for Alzheimer's disease." []	1142852	\N	\N	EFO	3	EFO	information entity	t-tau measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004760	"Is a quantification of total tau protein, a biomarker for Alzheimer's disease." []	2025608	\N	\N	EFO	4	EFO	experimental factor	t-tau measurement
EFO:0004761	\N	\N	"Is a quantification of uric acid, typically in blood. Uric acid is associated with gout, insulin resistance and cardivascular disease." []	EFO:0004761	"Is a quantification of uric acid, typically in blood. Uric acid is associated with gout, insulin resistance and cardivascular disease." []	66614	\N	\N	EFO	0	EFO	uric acid measurement	uric acid measurement
EFO:0004298	EFO:0004761	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004761	"Is a quantification of uric acid, typically in blood. Uric acid is associated with gout, insulin resistance and cardivascular disease." []	207929	\N	\N	EFO	1	EFO	cardiovascular measurement	uric acid measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004761	"Is a quantification of uric acid, typically in blood. Uric acid is associated with gout, insulin resistance and cardivascular disease." []	561082	\N	\N	EFO	2	EFO	measurement	uric acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004761	"Is a quantification of uric acid, typically in blood. Uric acid is associated with gout, insulin resistance and cardivascular disease." []	1142853	\N	\N	EFO	3	EFO	information entity	uric acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004761	"Is a quantification of uric acid, typically in blood. Uric acid is associated with gout, insulin resistance and cardivascular disease." []	2025609	\N	\N	EFO	4	EFO	experimental factor	uric acid measurement
EFO:0004762	\N	\N	"Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." []	EFO:0004762	"Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." []	66615	\N	\N	EFO	0	EFO	vascular endothelial growth factor measurement	vascular endothelial growth factor measurement
EFO:0005127	EFO:0004762	\N	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	EFO:0004762	"Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." []	207930	\N	\N	EFO	1	EFO	cancer biomarker measurement	vascular endothelial growth factor measurement
EFO:0006900	EFO:0004762	\N	"quantification of some circulating endothelial growth factor in blood" []	EFO:0004762	"Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." []	207931	\N	\N	EFO	1	EFO	endothelial growth factor measurement	vascular endothelial growth factor measurement
EFO:0001444	EFO:0005127	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004762	"Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." []	561083	\N	\N	EFO	2	EFO	measurement	vascular endothelial growth factor measurement
EFO:0004747	EFO:0006900	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004762	"Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." []	561084	\N	\N	EFO	2	EFO	protein measurement	vascular endothelial growth factor measurement
EFO:0005278	EFO:0006900	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004762	"Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." []	561085	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	vascular endothelial growth factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004762	"Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." []	3178200	\N	\N	EFO	5	EFO	information entity	vascular endothelial growth factor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004762	"Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." []	1142855	\N	\N	EFO	3	EFO	measurement	vascular endothelial growth factor measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004762	"Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." []	1142856	\N	\N	EFO	3	EFO	cardiovascular measurement	vascular endothelial growth factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004762	"Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." []	4066714	\N	\N	EFO	6	EFO	experimental factor	vascular endothelial growth factor measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004762	"Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer." []	2025612	\N	\N	EFO	4	EFO	measurement	vascular endothelial growth factor measurement
EFO:0004763	\N	\N	"Is a quantification of phosphorylated tau protein, used as a biomarker for Alzheimer's disease." []	EFO:0004763	"Is a quantification of phosphorylated tau protein, used as a biomarker for Alzheimer's disease." []	66616	\N	\N	EFO	0	EFO	p-tau measurement	p-tau measurement
EFO:0004747	EFO:0004763	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004763	"Is a quantification of phosphorylated tau protein, used as a biomarker for Alzheimer's disease." []	207932	\N	\N	EFO	1	EFO	protein measurement	p-tau measurement
EFO:0006514	EFO:0004763	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0004763	"Is a quantification of phosphorylated tau protein, used as a biomarker for Alzheimer's disease." []	207933	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	p-tau measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004763	"Is a quantification of phosphorylated tau protein, used as a biomarker for Alzheimer's disease." []	561086	\N	\N	EFO	2	EFO	measurement	p-tau measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004763	"Is a quantification of phosphorylated tau protein, used as a biomarker for Alzheimer's disease." []	561087	\N	\N	EFO	2	EFO	measurement	p-tau measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004763	"Is a quantification of phosphorylated tau protein, used as a biomarker for Alzheimer's disease." []	1142857	\N	\N	EFO	3	EFO	information entity	p-tau measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004763	"Is a quantification of phosphorylated tau protein, used as a biomarker for Alzheimer's disease." []	2025613	\N	\N	EFO	4	EFO	experimental factor	p-tau measurement
EFO:0004764	\N	\N	"Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." []	EFO:0004764	"Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." []	66617	\N	\N	EFO	0	EFO	adipose tissue measurement	adipose tissue measurement
EFO:0004302	EFO:0004764	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004764	"Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." []	207934	\N	\N	EFO	1	EFO	anthropometric measurement	adipose tissue measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004764	"Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." []	561088	\N	\N	EFO	2	EFO	measurement	adipose tissue measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004764	"Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." []	1142858	\N	\N	EFO	3	EFO	information entity	adipose tissue measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004764	"Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." []	2025614	\N	\N	EFO	4	EFO	experimental factor	adipose tissue measurement
EFO:0004765	\N	\N	"Is a quantification of a particular location of adipose tissue." []	EFO:0004765	"Is a quantification of a particular location of adipose tissue." []	66618	\N	\N	EFO	0	EFO	visceral adipose tissue measurement	visceral adipose tissue measurement
EFO:0004764	EFO:0004765	\N	"Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." []	EFO:0004765	"Is a quantification of a particular location of adipose tissue." []	207935	\N	\N	EFO	1	EFO	adipose tissue measurement	visceral adipose tissue measurement
EFO:0004302	EFO:0004764	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004765	"Is a quantification of a particular location of adipose tissue." []	561089	\N	\N	EFO	2	EFO	anthropometric measurement	visceral adipose tissue measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004765	"Is a quantification of a particular location of adipose tissue." []	1142859	\N	\N	EFO	3	EFO	measurement	visceral adipose tissue measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004765	"Is a quantification of a particular location of adipose tissue." []	2025615	\N	\N	EFO	4	EFO	information entity	visceral adipose tissue measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004765	"Is a quantification of a particular location of adipose tissue." []	3178201	\N	\N	EFO	5	EFO	experimental factor	visceral adipose tissue measurement
EFO:0004766	\N	\N	"Is a quantification of adipose tissue located beneath the skin." []	EFO:0004766	"Is a quantification of adipose tissue located beneath the skin." []	66619	\N	\N	EFO	0	EFO	subcutaneous adipose tissue measurement	subcutaneous adipose tissue measurement
EFO:0004764	EFO:0004766	\N	"Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." []	EFO:0004766	"Is a quantification of adipose tissue located beneath the skin." []	207936	\N	\N	EFO	1	EFO	adipose tissue measurement	subcutaneous adipose tissue measurement
EFO:0004302	EFO:0004764	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004766	"Is a quantification of adipose tissue located beneath the skin." []	561090	\N	\N	EFO	2	EFO	anthropometric measurement	subcutaneous adipose tissue measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004766	"Is a quantification of adipose tissue located beneath the skin." []	1142860	\N	\N	EFO	3	EFO	measurement	subcutaneous adipose tissue measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004766	"Is a quantification of adipose tissue located beneath the skin." []	2025616	\N	\N	EFO	4	EFO	information entity	subcutaneous adipose tissue measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004766	"Is a quantification of adipose tissue located beneath the skin." []	3178202	\N	\N	EFO	5	EFO	experimental factor	subcutaneous adipose tissue measurement
EFO:0004767	\N	\N	"Is a quantification of visceral to subcutaneous adipose tissue." []	EFO:0004767	"Is a quantification of visceral to subcutaneous adipose tissue." []	66620	\N	\N	EFO	0	EFO	visceral:subcutaneous adipose tissue ratio	visceral:subcutaneous adipose tissue ratio
EFO:0004764	EFO:0004767	\N	"Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." []	EFO:0004767	"Is a quantification of visceral to subcutaneous adipose tissue." []	207937	\N	\N	EFO	1	EFO	adipose tissue measurement	visceral:subcutaneous adipose tissue ratio
EFO:0004302	EFO:0004764	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004767	"Is a quantification of visceral to subcutaneous adipose tissue." []	561091	\N	\N	EFO	2	EFO	anthropometric measurement	visceral:subcutaneous adipose tissue ratio
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004767	"Is a quantification of visceral to subcutaneous adipose tissue." []	1142861	\N	\N	EFO	3	EFO	measurement	visceral:subcutaneous adipose tissue ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004767	"Is a quantification of visceral to subcutaneous adipose tissue." []	2025617	\N	\N	EFO	4	EFO	information entity	visceral:subcutaneous adipose tissue ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004767	"Is a quantification of visceral to subcutaneous adipose tissue." []	3178203	\N	\N	EFO	5	EFO	experimental factor	visceral:subcutaneous adipose tissue ratio
EFO:0004768	\N	\N	"Is a quantification of follicle stimulating hormone. ollicle-stimulating hormone (FSH) is a hormone found in humans and other animals. It is synthesized and secreted by gonadotrophs of the anterior pituitary gland. FSH regulates the development, growth, pubertal maturation, and reproductive processes of the body. FSH and luteinizing hormone (LH) act synergistically in reproduction. Specifically, an increase in FSH secretion by the anterior pituitary causes ovulation. FSH measurements are used as a biomarker of oocyte reserve." []	EFO:0004768	"Is a quantification of follicle stimulating hormone. ollicle-stimulating hormone (FSH) is a hormone found in humans and other animals. It is synthesized and secreted by gonadotrophs of the anterior pituitary gland. FSH regulates the development, growth, pubertal maturation, and reproductive processes of the body. FSH and luteinizing hormone (LH) act synergistically in reproduction. Specifically, an increase in FSH secretion by the anterior pituitary causes ovulation. FSH measurements are used as a biomarker of oocyte reserve." []	66621	\N	\N	EFO	0	EFO	follicle stimulating hormone measurement	follicle stimulating hormone measurement
EFO:0004730	EFO:0004768	\N	"" []	EFO:0004768	"Is a quantification of follicle stimulating hormone. ollicle-stimulating hormone (FSH) is a hormone found in humans and other animals. It is synthesized and secreted by gonadotrophs of the anterior pituitary gland. FSH regulates the development, growth, pubertal maturation, and reproductive processes of the body. FSH and luteinizing hormone (LH) act synergistically in reproduction. Specifically, an increase in FSH secretion by the anterior pituitary causes ovulation. FSH measurements are used as a biomarker of oocyte reserve." []	207938	\N	\N	EFO	1	EFO	hormone measurement	follicle stimulating hormone measurement
EFO:0004747	EFO:0004768	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004768	"Is a quantification of follicle stimulating hormone. ollicle-stimulating hormone (FSH) is a hormone found in humans and other animals. It is synthesized and secreted by gonadotrophs of the anterior pituitary gland. FSH regulates the development, growth, pubertal maturation, and reproductive processes of the body. FSH and luteinizing hormone (LH) act synergistically in reproduction. Specifically, an increase in FSH secretion by the anterior pituitary causes ovulation. FSH measurements are used as a biomarker of oocyte reserve." []	207939	\N	\N	EFO	1	EFO	protein measurement	follicle stimulating hormone measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004768	"Is a quantification of follicle stimulating hormone. ollicle-stimulating hormone (FSH) is a hormone found in humans and other animals. It is synthesized and secreted by gonadotrophs of the anterior pituitary gland. FSH regulates the development, growth, pubertal maturation, and reproductive processes of the body. FSH and luteinizing hormone (LH) act synergistically in reproduction. Specifically, an increase in FSH secretion by the anterior pituitary causes ovulation. FSH measurements are used as a biomarker of oocyte reserve." []	561092	\N	\N	EFO	2	EFO	measurement	follicle stimulating hormone measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004768	"Is a quantification of follicle stimulating hormone. ollicle-stimulating hormone (FSH) is a hormone found in humans and other animals. It is synthesized and secreted by gonadotrophs of the anterior pituitary gland. FSH regulates the development, growth, pubertal maturation, and reproductive processes of the body. FSH and luteinizing hormone (LH) act synergistically in reproduction. Specifically, an increase in FSH secretion by the anterior pituitary causes ovulation. FSH measurements are used as a biomarker of oocyte reserve." []	561093	\N	\N	EFO	2	EFO	measurement	follicle stimulating hormone measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004768	"Is a quantification of follicle stimulating hormone. ollicle-stimulating hormone (FSH) is a hormone found in humans and other animals. It is synthesized and secreted by gonadotrophs of the anterior pituitary gland. FSH regulates the development, growth, pubertal maturation, and reproductive processes of the body. FSH and luteinizing hormone (LH) act synergistically in reproduction. Specifically, an increase in FSH secretion by the anterior pituitary causes ovulation. FSH measurements are used as a biomarker of oocyte reserve." []	1142862	\N	\N	EFO	3	EFO	information entity	follicle stimulating hormone measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004768	"Is a quantification of follicle stimulating hormone. ollicle-stimulating hormone (FSH) is a hormone found in humans and other animals. It is synthesized and secreted by gonadotrophs of the anterior pituitary gland. FSH regulates the development, growth, pubertal maturation, and reproductive processes of the body. FSH and luteinizing hormone (LH) act synergistically in reproduction. Specifically, an increase in FSH secretion by the anterior pituitary causes ovulation. FSH measurements are used as a biomarker of oocyte reserve." []	2025618	\N	\N	EFO	4	EFO	experimental factor	follicle stimulating hormone measurement
EFO:0004769	\N	\N	"Is a quantification of anti_Mullerian hormone, and is used as a biomarker of ovarian reserve. The AMH is  produced by the granulosa cells of the early developing antral follicles.  These  are the immature eggs that wake up from their dormant state and develop into mature eggs.  As the number of oocytes decline, the number of  small antral follicles decline in number and  the serum Anti-Mullerian hormone level falls." []	EFO:0004769	"Is a quantification of anti_Mullerian hormone, and is used as a biomarker of ovarian reserve. The AMH is  produced by the granulosa cells of the early developing antral follicles.  These  are the immature eggs that wake up from their dormant state and develop into mature eggs.  As the number of oocytes decline, the number of  small antral follicles decline in number and  the serum Anti-Mullerian hormone level falls." []	66622	\N	\N	EFO	0	EFO	anti-Mullerian hormone measurement	anti-Mullerian hormone measurement
EFO:0004730	EFO:0004769	\N	"" []	EFO:0004769	"Is a quantification of anti_Mullerian hormone, and is used as a biomarker of ovarian reserve. The AMH is  produced by the granulosa cells of the early developing antral follicles.  These  are the immature eggs that wake up from their dormant state and develop into mature eggs.  As the number of oocytes decline, the number of  small antral follicles decline in number and  the serum Anti-Mullerian hormone level falls." []	207940	\N	\N	EFO	1	EFO	hormone measurement	anti-Mullerian hormone measurement
EFO:0004747	EFO:0004769	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004769	"Is a quantification of anti_Mullerian hormone, and is used as a biomarker of ovarian reserve. The AMH is  produced by the granulosa cells of the early developing antral follicles.  These  are the immature eggs that wake up from their dormant state and develop into mature eggs.  As the number of oocytes decline, the number of  small antral follicles decline in number and  the serum Anti-Mullerian hormone level falls." []	207941	\N	\N	EFO	1	EFO	protein measurement	anti-Mullerian hormone measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004769	"Is a quantification of anti_Mullerian hormone, and is used as a biomarker of ovarian reserve. The AMH is  produced by the granulosa cells of the early developing antral follicles.  These  are the immature eggs that wake up from their dormant state and develop into mature eggs.  As the number of oocytes decline, the number of  small antral follicles decline in number and  the serum Anti-Mullerian hormone level falls." []	561094	\N	\N	EFO	2	EFO	measurement	anti-Mullerian hormone measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004769	"Is a quantification of anti_Mullerian hormone, and is used as a biomarker of ovarian reserve. The AMH is  produced by the granulosa cells of the early developing antral follicles.  These  are the immature eggs that wake up from their dormant state and develop into mature eggs.  As the number of oocytes decline, the number of  small antral follicles decline in number and  the serum Anti-Mullerian hormone level falls." []	561095	\N	\N	EFO	2	EFO	measurement	anti-Mullerian hormone measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004769	"Is a quantification of anti_Mullerian hormone, and is used as a biomarker of ovarian reserve. The AMH is  produced by the granulosa cells of the early developing antral follicles.  These  are the immature eggs that wake up from their dormant state and develop into mature eggs.  As the number of oocytes decline, the number of  small antral follicles decline in number and  the serum Anti-Mullerian hormone level falls." []	1142863	\N	\N	EFO	3	EFO	information entity	anti-Mullerian hormone measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004769	"Is a quantification of anti_Mullerian hormone, and is used as a biomarker of ovarian reserve. The AMH is  produced by the granulosa cells of the early developing antral follicles.  These  are the immature eggs that wake up from their dormant state and develop into mature eggs.  As the number of oocytes decline, the number of  small antral follicles decline in number and  the serum Anti-Mullerian hormone level falls." []	2025619	\N	\N	EFO	4	EFO	experimental factor	anti-Mullerian hormone measurement
EFO:0004770	\N	\N	"Ovarian reserve is a term that is used to determine the capacity of the ovary to provide oocytes that are capable of fertilization resulting in a healthy and successful pregnancy. Ovarian reserve is correlated with levels of FSH and anti-Mullerian hormones." []	EFO:0004770	"Ovarian reserve is a term that is used to determine the capacity of the ovary to provide oocytes that are capable of fertilization resulting in a healthy and successful pregnancy. Ovarian reserve is correlated with levels of FSH and anti-Mullerian hormones." []	66623	\N	\N	EFO	0	EFO	ovarian reserve	ovarian reserve
EFO:0001444	EFO:0004770	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004770	"Ovarian reserve is a term that is used to determine the capacity of the ovary to provide oocytes that are capable of fertilization resulting in a healthy and successful pregnancy. Ovarian reserve is correlated with levels of FSH and anti-Mullerian hormones." []	207942	\N	\N	EFO	1	EFO	measurement	ovarian reserve
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004770	"Ovarian reserve is a term that is used to determine the capacity of the ovary to provide oocytes that are capable of fertilization resulting in a healthy and successful pregnancy. Ovarian reserve is correlated with levels of FSH and anti-Mullerian hormones." []	561096	\N	\N	EFO	2	EFO	information entity	ovarian reserve
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004770	"Ovarian reserve is a term that is used to determine the capacity of the ovary to provide oocytes that are capable of fertilization resulting in a healthy and successful pregnancy. Ovarian reserve is correlated with levels of FSH and anti-Mullerian hormones." []	1142864	\N	\N	EFO	3	EFO	experimental factor	ovarian reserve
EFO:0004771	\N	\N	"quantification of the surface area of the visual cortex. The visual cortex is located in the occipital lobe at the back of the brain. It is variable and heritable, and is correlated with visual acuity and visual perception." []	EFO:0004771	"quantification of the surface area of the visual cortex. The visual cortex is located in the occipital lobe at the back of the brain. It is variable and heritable, and is correlated with visual acuity and visual perception." []	66624	\N	\N	EFO	0	EFO	visual cortical surface area measurement	visual cortical surface area measurement
EFO:0004464	EFO:0004771	\N	"" []	EFO:0004771	"quantification of the surface area of the visual cortex. The visual cortex is located in the occipital lobe at the back of the brain. It is variable and heritable, and is correlated with visual acuity and visual perception." []	207943	\N	\N	EFO	1	EFO	brain measurement	visual cortical surface area measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004771	"quantification of the surface area of the visual cortex. The visual cortex is located in the occipital lobe at the back of the brain. It is variable and heritable, and is correlated with visual acuity and visual perception." []	561097	\N	\N	EFO	2	EFO	measurement	visual cortical surface area measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004771	"quantification of the surface area of the visual cortex. The visual cortex is located in the occipital lobe at the back of the brain. It is variable and heritable, and is correlated with visual acuity and visual perception." []	1142865	\N	\N	EFO	3	EFO	information entity	visual cortical surface area measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004771	"quantification of the surface area of the visual cortex. The visual cortex is located in the occipital lobe at the back of the brain. It is variable and heritable, and is correlated with visual acuity and visual perception." []	2025620	\N	\N	EFO	4	EFO	experimental factor	visual cortical surface area measurement
EFO:0004772	\N	\N	"A form of hypertension with early onset relative to normal range for a given population." []	EFO:0004772	"A form of hypertension with early onset relative to normal range for a given population." []	66625	\N	\N	EFO	0	EFO	early onset hypertension	early onset hypertension
EFO:0000537	EFO:0004772	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:0004772	"A form of hypertension with early onset relative to normal range for a given population." []	207944	\N	\N	EFO	1	EFO	hypertension	early onset hypertension
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004772	"A form of hypertension with early onset relative to normal range for a given population." []	561098	\N	\N	EFO	2	EFO	cardiovascular disease	early onset hypertension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004772	"A form of hypertension with early onset relative to normal range for a given population." []	1142866	\N	\N	EFO	3	EFO	disease	early onset hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004772	"A form of hypertension with early onset relative to normal range for a given population." []	2025621	\N	\N	EFO	4	EFO	disposition	early onset hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004772	"A form of hypertension with early onset relative to normal range for a given population." []	3178204	\N	\N	EFO	5	EFO	material property	early onset hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004772	"A form of hypertension with early onset relative to normal range for a given population." []	4388105	\N	\N	EFO	6	EFO	experimental factor	early onset hypertension
EFO:0004774	\N	\N	"Mastication of tobacco, correlated with an increased risk of oral cancers." []	EFO:0004774	"Mastication of tobacco, correlated with an increased risk of oral cancers." []	66626	\N	\N	EFO	0	EFO	chewing tobacco behavior	chewing tobacco behavior
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0004774	"Mastication of tobacco, correlated with an increased risk of oral cancers." []	194679	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	chewing tobacco behavior
EFO:0004775	\N	\N	"An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure." []	EFO:0004775	"An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure." []	66627	\N	\N	EFO	0	EFO	toxic epidermal necrolysis	toxic epidermal necrolysis
EFO:0006346	EFO:0004775	\N	"Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis." []	EFO:0004775	"An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure." []	207945	\N	\N	EFO	1	EFO	severe cutaneous adverse reaction	toxic epidermal necrolysis
EFO:0000701	EFO:0006346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0004775	"An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure." []	561099	\N	\N	EFO	2	EFO	skin disease	toxic epidermal necrolysis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004775	"An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure." []	1142867	\N	\N	EFO	3	EFO	disease	toxic epidermal necrolysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004775	"An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure." []	2025622	\N	\N	EFO	4	EFO	disposition	toxic epidermal necrolysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004775	"An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure." []	3178205	\N	\N	EFO	5	EFO	material property	toxic epidermal necrolysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004775	"An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure." []	4388106	\N	\N	EFO	6	EFO	experimental factor	toxic epidermal necrolysis
EFO:0004776	\N	\N	"A drug dependence that is the physiological result of being addicted to alcohol and nicotine." []	EFO:0004776	"A drug dependence that is the physiological result of being addicted to alcohol and nicotine." []	66628	\N	\N	EFO	0	EFO	alcohol and nicotine codependence	alcohol and nicotine codependence
EFO:0003890	EFO:0004776	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0004776	"A drug dependence that is the physiological result of being addicted to alcohol and nicotine." []	207946	\N	\N	EFO	1	EFO	drug dependence	alcohol and nicotine codependence
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004776	"A drug dependence that is the physiological result of being addicted to alcohol and nicotine." []	561100	\N	\N	EFO	2	EFO	mental or behavioural disorder	alcohol and nicotine codependence
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004776	"A drug dependence that is the physiological result of being addicted to alcohol and nicotine." []	1142868	\N	\N	EFO	3	EFO	brain disease	alcohol and nicotine codependence
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004776	"A drug dependence that is the physiological result of being addicted to alcohol and nicotine." []	2025623	\N	\N	EFO	4	EFO	nervous system disease	alcohol and nicotine codependence
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004776	"A drug dependence that is the physiological result of being addicted to alcohol and nicotine." []	3178206	\N	\N	EFO	5	EFO	disease	alcohol and nicotine codependence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004776	"A drug dependence that is the physiological result of being addicted to alcohol and nicotine." []	4388107	\N	\N	EFO	6	EFO	disposition	alcohol and nicotine codependence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004776	"A drug dependence that is the physiological result of being addicted to alcohol and nicotine." []	5408761	\N	\N	EFO	7	EFO	material property	alcohol and nicotine codependence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004776	"A drug dependence that is the physiological result of being addicted to alcohol and nicotine." []	6147492	\N	\N	EFO	8	EFO	experimental factor	alcohol and nicotine codependence
EFO:0004777	\N	\N	"" []	EFO:0004777	"" []	66629	\N	\N	EFO	0	EFO	alcohol withdrawal	alcohol withdrawal
EFO:0003890	EFO:0004777	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0004777	"" []	207947	\N	\N	EFO	1	EFO	drug dependence	alcohol withdrawal
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0004777	"" []	561101	\N	\N	EFO	2	EFO	mental or behavioural disorder	alcohol withdrawal
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0004777	"" []	1142869	\N	\N	EFO	3	EFO	brain disease	alcohol withdrawal
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004777	"" []	2025624	\N	\N	EFO	4	EFO	nervous system disease	alcohol withdrawal
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004777	"" []	3178207	\N	\N	EFO	5	EFO	disease	alcohol withdrawal
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004777	"" []	4388108	\N	\N	EFO	6	EFO	disposition	alcohol withdrawal
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004777	"" []	5408762	\N	\N	EFO	7	EFO	material property	alcohol withdrawal
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004777	"" []	6147493	\N	\N	EFO	8	EFO	experimental factor	alcohol withdrawal
EFO:0004778	\N	\N	"The process of questioning an individual, usually by means of a survey to determine general health." []	EFO:0004778	"The process of questioning an individual, usually by means of a survey to determine general health." []	66630	\N	\N	EFO	0	EFO	self rated health	self rated health
EFO:0004542	EFO:0004778	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004778	"The process of questioning an individual, usually by means of a survey to determine general health." []	207948	\N	\N	EFO	1	EFO	planned process	self rated health
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004778	"The process of questioning an individual, usually by means of a survey to determine general health." []	561102	\N	\N	EFO	2	EFO	process	self rated health
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004778	"The process of questioning an individual, usually by means of a survey to determine general health." []	1142870	\N	\N	EFO	3	EFO	experimental factor	self rated health
EFO:0004779	\N	\N	"The CHAOS (Confusion, Hubbub and Order) scale is a questionnaire filled out by parents that is designed to assess the level of confusion and disorganization in the childs home environment." []	EFO:0004779	"The CHAOS (Confusion, Hubbub and Order) scale is a questionnaire filled out by parents that is designed to assess the level of confusion and disorganization in the childs home environment." []	66631	\N	\N	EFO	0	EFO	CHAOS measure	CHAOS measure
EFO:0006848	EFO:0004779	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0004779	"The CHAOS (Confusion, Hubbub and Order) scale is a questionnaire filled out by parents that is designed to assess the level of confusion and disorganization in the childs home environment." []	207949	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	CHAOS measure
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004779	"The CHAOS (Confusion, Hubbub and Order) scale is a questionnaire filled out by parents that is designed to assess the level of confusion and disorganization in the childs home environment." []	561103	\N	\N	EFO	2	EFO	measurement	CHAOS measure
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004779	"The CHAOS (Confusion, Hubbub and Order) scale is a questionnaire filled out by parents that is designed to assess the level of confusion and disorganization in the childs home environment." []	1142871	\N	\N	EFO	3	EFO	information entity	CHAOS measure
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004779	"The CHAOS (Confusion, Hubbub and Order) scale is a questionnaire filled out by parents that is designed to assess the level of confusion and disorganization in the childs home environment." []	2025625	\N	\N	EFO	4	EFO	experimental factor	CHAOS measure
EFO:0004780	\N	\N	"" []	EFO:0004780	"" []	66632	\N	\N	EFO	0	EFO	DSM-IV-based social scale	DSM-IV-based social scale
EFO:0006848	EFO:0004780	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0004780	"" []	207950	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	DSM-IV-based social scale
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004780	"" []	561104	\N	\N	EFO	2	EFO	measurement	DSM-IV-based social scale
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004780	"" []	1142872	\N	\N	EFO	3	EFO	information entity	DSM-IV-based social scale
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004780	"" []	2025626	\N	\N	EFO	4	EFO	experimental factor	DSM-IV-based social scale
EFO:0004781	\N	\N	"A measure of non social behaviour used in behavioral studies to examine autistic like traits." []	EFO:0004781	"A measure of non social behaviour used in behavioral studies to examine autistic like traits." []	66633	\N	\N	EFO	0	EFO	DSM-IV-based  non-social scale	DSM-IV-based  non-social scale
EFO:0006848	EFO:0004781	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0004781	"A measure of non social behaviour used in behavioral studies to examine autistic like traits." []	207951	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	DSM-IV-based  non-social scale
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004781	"A measure of non social behaviour used in behavioral studies to examine autistic like traits." []	561105	\N	\N	EFO	2	EFO	measurement	DSM-IV-based  non-social scale
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004781	"A measure of non social behaviour used in behavioral studies to examine autistic like traits." []	1142873	\N	\N	EFO	3	EFO	information entity	DSM-IV-based  non-social scale
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004781	"A measure of non social behaviour used in behavioral studies to examine autistic like traits." []	2025627	\N	\N	EFO	4	EFO	experimental factor	DSM-IV-based  non-social scale
EFO:0004782	\N	\N	"Measurements used to quantify, or assess individual or population  behaviour or disorderd behaviours, e.g. by adminsistration of a questionaire." []	EFO:0004782	"Measurements used to quantify, or assess individual or population  behaviour or disorderd behaviours, e.g. by adminsistration of a questionaire." []	66634	\N	\N	EFO	0	EFO	behavior or behavioral disorder measurement	behavior or behavioral disorder measurement
EFO:0001444	EFO:0004782	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004782	"Measurements used to quantify, or assess individual or population  behaviour or disorderd behaviours, e.g. by adminsistration of a questionaire." []	207952	\N	\N	EFO	1	EFO	measurement	behavior or behavioral disorder measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004782	"Measurements used to quantify, or assess individual or population  behaviour or disorderd behaviours, e.g. by adminsistration of a questionaire." []	561106	\N	\N	EFO	2	EFO	information entity	behavior or behavioral disorder measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004782	"Measurements used to quantify, or assess individual or population  behaviour or disorderd behaviours, e.g. by adminsistration of a questionaire." []	1142874	\N	\N	EFO	3	EFO	experimental factor	behavior or behavioral disorder measurement
EFO:0004783	\N	\N	"Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Autoquestionnaire (TEMPS-A). The TEMPS-A is designed to assess lifelong, milder aspects of bipolar symptomatology and defines five temperaments: hyperthymic, dysthymic, cyclothymic, irritable, and anxious." []	EFO:0004783	"Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Autoquestionnaire (TEMPS-A). The TEMPS-A is designed to assess lifelong, milder aspects of bipolar symptomatology and defines five temperaments: hyperthymic, dysthymic, cyclothymic, irritable, and anxious." []	66635	\N	\N	EFO	0	EFO	TEMPS-A questionnaire	TEMPS-A questionnaire
EFO:0006848	EFO:0004783	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0004783	"Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Autoquestionnaire (TEMPS-A). The TEMPS-A is designed to assess lifelong, milder aspects of bipolar symptomatology and defines five temperaments: hyperthymic, dysthymic, cyclothymic, irritable, and anxious." []	207953	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	TEMPS-A questionnaire
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004783	"Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Autoquestionnaire (TEMPS-A). The TEMPS-A is designed to assess lifelong, milder aspects of bipolar symptomatology and defines five temperaments: hyperthymic, dysthymic, cyclothymic, irritable, and anxious." []	561107	\N	\N	EFO	2	EFO	measurement	TEMPS-A questionnaire
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004783	"Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Autoquestionnaire (TEMPS-A). The TEMPS-A is designed to assess lifelong, milder aspects of bipolar symptomatology and defines five temperaments: hyperthymic, dysthymic, cyclothymic, irritable, and anxious." []	1142875	\N	\N	EFO	3	EFO	information entity	TEMPS-A questionnaire
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004783	"Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Autoquestionnaire (TEMPS-A). The TEMPS-A is designed to assess lifelong, milder aspects of bipolar symptomatology and defines five temperaments: hyperthymic, dysthymic, cyclothymic, irritable, and anxious." []	2025628	\N	\N	EFO	4	EFO	experimental factor	TEMPS-A questionnaire
EFO:0004784	\N	\N	"A measure of educational progress reported using a questionnaire based approach, often used as a proxy for cognitive performance as the two are correlated." []	EFO:0004784	"A measure of educational progress reported using a questionnaire based approach, often used as a proxy for cognitive performance as the two are correlated." []	66636	\N	\N	EFO	0	EFO	self reported educational attainment	self reported educational attainment
EFO:0001444	EFO:0004784	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004784	"A measure of educational progress reported using a questionnaire based approach, often used as a proxy for cognitive performance as the two are correlated." []	207954	\N	\N	EFO	1	EFO	measurement	self reported educational attainment
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004784	"A measure of educational progress reported using a questionnaire based approach, often used as a proxy for cognitive performance as the two are correlated." []	561108	\N	\N	EFO	2	EFO	information entity	self reported educational attainment
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004784	"A measure of educational progress reported using a questionnaire based approach, often used as a proxy for cognitive performance as the two are correlated." []	1142876	\N	\N	EFO	3	EFO	experimental factor	self reported educational attainment
EFO:0004785	\N	\N	"The South Texas Assessment of Neurocognition (STAN) is a 90-min primarily computerized battery of standard and experimental neuropsychological tests. The STAN combines software developed for psychological experimentation (E-Prime) and database software (Microsoft ACCESS) with a user interface developed in visual basic to provide a fully automated testing environment which logs subject information, administers tests in a pre-defined order and databases subject performance at the completion of each test." []	EFO:0004785	"The South Texas Assessment of Neurocognition (STAN) is a 90-min primarily computerized battery of standard and experimental neuropsychological tests. The STAN combines software developed for psychological experimentation (E-Prime) and database software (Microsoft ACCESS) with a user interface developed in visual basic to provide a fully automated testing environment which logs subject information, administers tests in a pre-defined order and databases subject performance at the completion of each test." []	66637	\N	\N	EFO	0	EFO	South Texas Assessment of Neurocognition	South Texas Assessment of Neurocognition
EFO:0006848	EFO:0004785	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0004785	"The South Texas Assessment of Neurocognition (STAN) is a 90-min primarily computerized battery of standard and experimental neuropsychological tests. The STAN combines software developed for psychological experimentation (E-Prime) and database software (Microsoft ACCESS) with a user interface developed in visual basic to provide a fully automated testing environment which logs subject information, administers tests in a pre-defined order and databases subject performance at the completion of each test." []	207955	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	South Texas Assessment of Neurocognition
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004785	"The South Texas Assessment of Neurocognition (STAN) is a 90-min primarily computerized battery of standard and experimental neuropsychological tests. The STAN combines software developed for psychological experimentation (E-Prime) and database software (Microsoft ACCESS) with a user interface developed in visual basic to provide a fully automated testing environment which logs subject information, administers tests in a pre-defined order and databases subject performance at the completion of each test." []	561109	\N	\N	EFO	2	EFO	measurement	South Texas Assessment of Neurocognition
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004785	"The South Texas Assessment of Neurocognition (STAN) is a 90-min primarily computerized battery of standard and experimental neuropsychological tests. The STAN combines software developed for psychological experimentation (E-Prime) and database software (Microsoft ACCESS) with a user interface developed in visual basic to provide a fully automated testing environment which logs subject information, administers tests in a pre-defined order and databases subject performance at the completion of each test." []	1142877	\N	\N	EFO	3	EFO	information entity	South Texas Assessment of Neurocognition
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004785	"The South Texas Assessment of Neurocognition (STAN) is a 90-min primarily computerized battery of standard and experimental neuropsychological tests. The STAN combines software developed for psychological experimentation (E-Prime) and database software (Microsoft ACCESS) with a user interface developed in visual basic to provide a fully automated testing environment which logs subject information, administers tests in a pre-defined order and databases subject performance at the completion of each test." []	2025629	\N	\N	EFO	4	EFO	experimental factor	South Texas Assessment of Neurocognition
EFO:0004786	\N	\N	"The Mini-international neuropsychiatric interview is a short structured clinical interview which enables researchers to make diagnoses of psychiatric disorders according to DSM-IV (Diagnostic and Statistical Manual of Mental Disorders) or ICD-10. The administration time of the interview is approximately 15 minutes and was designed for epidemiological studies and multicenter clinical trials." []	EFO:0004786	"The Mini-international neuropsychiatric interview is a short structured clinical interview which enables researchers to make diagnoses of psychiatric disorders according to DSM-IV (Diagnostic and Statistical Manual of Mental Disorders) or ICD-10. The administration time of the interview is approximately 15 minutes and was designed for epidemiological studies and multicenter clinical trials." []	66638	\N	\N	EFO	0	EFO	Mini-International Neuropsychiatric Interview	Mini-International Neuropsychiatric Interview
EFO:0006848	EFO:0004786	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0004786	"The Mini-international neuropsychiatric interview is a short structured clinical interview which enables researchers to make diagnoses of psychiatric disorders according to DSM-IV (Diagnostic and Statistical Manual of Mental Disorders) or ICD-10. The administration time of the interview is approximately 15 minutes and was designed for epidemiological studies and multicenter clinical trials." []	207956	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	Mini-International Neuropsychiatric Interview
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004786	"The Mini-international neuropsychiatric interview is a short structured clinical interview which enables researchers to make diagnoses of psychiatric disorders according to DSM-IV (Diagnostic and Statistical Manual of Mental Disorders) or ICD-10. The administration time of the interview is approximately 15 minutes and was designed for epidemiological studies and multicenter clinical trials." []	561110	\N	\N	EFO	2	EFO	measurement	Mini-International Neuropsychiatric Interview
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004786	"The Mini-international neuropsychiatric interview is a short structured clinical interview which enables researchers to make diagnoses of psychiatric disorders according to DSM-IV (Diagnostic and Statistical Manual of Mental Disorders) or ICD-10. The administration time of the interview is approximately 15 minutes and was designed for epidemiological studies and multicenter clinical trials." []	1142878	\N	\N	EFO	3	EFO	information entity	Mini-International Neuropsychiatric Interview
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004786	"The Mini-international neuropsychiatric interview is a short structured clinical interview which enables researchers to make diagnoses of psychiatric disorders according to DSM-IV (Diagnostic and Statistical Manual of Mental Disorders) or ICD-10. The administration time of the interview is approximately 15 minutes and was designed for epidemiological studies and multicenter clinical trials." []	2025630	\N	\N	EFO	4	EFO	experimental factor	Mini-International Neuropsychiatric Interview
EFO:0004789	\N	\N	"Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. \\nANF  is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue). Increased levels of ANP are associated with heart failure." []	EFO:0004789	"Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. \\nANF  is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue). Increased levels of ANP are associated with heart failure." []	66639	\N	\N	EFO	0	EFO	atrial natriuretic factor measurement	atrial natriuretic factor measurement
EFO:0004730	EFO:0004789	\N	"" []	EFO:0004789	"Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. \\nANF  is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue). Increased levels of ANP are associated with heart failure." []	207957	\N	\N	EFO	1	EFO	hormone measurement	atrial natriuretic factor measurement
EFO:0005278	EFO:0004789	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004789	"Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. \\nANF  is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue). Increased levels of ANP are associated with heart failure." []	207958	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	atrial natriuretic factor measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004789	"Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. \\nANF  is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue). Increased levels of ANP are associated with heart failure." []	561111	\N	\N	EFO	2	EFO	measurement	atrial natriuretic factor measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004789	"Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. \\nANF  is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue). Increased levels of ANP are associated with heart failure." []	561112	\N	\N	EFO	2	EFO	cardiovascular measurement	atrial natriuretic factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004789	"Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. \\nANF  is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue). Increased levels of ANP are associated with heart failure." []	2025632	\N	\N	EFO	4	EFO	information entity	atrial natriuretic factor measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004789	"Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. \\nANF  is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue). Increased levels of ANP are associated with heart failure." []	1142880	\N	\N	EFO	3	EFO	measurement	atrial natriuretic factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004789	"Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. \\nANF  is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue). Increased levels of ANP are associated with heart failure." []	2999597	\N	\N	EFO	5	EFO	experimental factor	atrial natriuretic factor measurement
EFO:0004790	\N	\N	"Is a quantification of CD40 ligand,  primarily expressed on activated CD4+ T lymphocytes. Protein function - mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL-4. Involved in immunoglobulin class switching.1 Publication\\nRelease of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and an matrix metalloproteinases (MMP) inhibitor-sensitive pathway." []	EFO:0004790	"Is a quantification of CD40 ligand,  primarily expressed on activated CD4+ T lymphocytes. Protein function - mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL-4. Involved in immunoglobulin class switching.1 Publication\\nRelease of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and an matrix metalloproteinases (MMP) inhibitor-sensitive pathway." []	66640	\N	\N	EFO	0	EFO	CD40 ligand measurement	CD40 ligand measurement
EFO:0004872	EFO:0004790	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004790	"Is a quantification of CD40 ligand,  primarily expressed on activated CD4+ T lymphocytes. Protein function - mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL-4. Involved in immunoglobulin class switching.1 Publication\\nRelease of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and an matrix metalloproteinases (MMP) inhibitor-sensitive pathway." []	207959	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	CD40 ligand measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004790	"Is a quantification of CD40 ligand,  primarily expressed on activated CD4+ T lymphocytes. Protein function - mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL-4. Involved in immunoglobulin class switching.1 Publication\\nRelease of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and an matrix metalloproteinases (MMP) inhibitor-sensitive pathway." []	561113	\N	\N	EFO	2	EFO	measurement	CD40 ligand measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004790	"Is a quantification of CD40 ligand,  primarily expressed on activated CD4+ T lymphocytes. Protein function - mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL-4. Involved in immunoglobulin class switching.1 Publication\\nRelease of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and an matrix metalloproteinases (MMP) inhibitor-sensitive pathway." []	1142881	\N	\N	EFO	3	EFO	information entity	CD40 ligand measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004790	"Is a quantification of CD40 ligand,  primarily expressed on activated CD4+ T lymphocytes. Protein function - mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL-4. Involved in immunoglobulin class switching.1 Publication\\nRelease of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and an matrix metalloproteinases (MMP) inhibitor-sensitive pathway." []	2025633	\N	\N	EFO	4	EFO	experimental factor	CD40 ligand measurement
EFO:0004791	\N	\N	"Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration." []	EFO:0004791	"Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration." []	66641	\N	\N	EFO	0	EFO	tissue plasminogen activator measurement	tissue plasminogen activator measurement
EFO:0004747	EFO:0004791	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004791	"Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration." []	207960	\N	\N	EFO	1	EFO	protein measurement	tissue plasminogen activator measurement
EFO:0005278	EFO:0004791	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004791	"Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration." []	207961	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	tissue plasminogen activator measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004791	"Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration." []	561114	\N	\N	EFO	2	EFO	measurement	tissue plasminogen activator measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004791	"Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration." []	561115	\N	\N	EFO	2	EFO	cardiovascular measurement	tissue plasminogen activator measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004791	"Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration." []	2025635	\N	\N	EFO	4	EFO	information entity	tissue plasminogen activator measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004791	"Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration." []	1142883	\N	\N	EFO	3	EFO	measurement	tissue plasminogen activator measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004791	"Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration." []	2999598	\N	\N	EFO	5	EFO	experimental factor	tissue plasminogen activator measurement
EFO:0004792	\N	\N	"Is a quantification of plasminogen activator inhibitor 1 a serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis" []	EFO:0004792	"Is a quantification of plasminogen activator inhibitor 1 a serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis" []	66642	\N	\N	EFO	0	EFO	plasminogen activator inhibitor 1 measurement	plasminogen activator inhibitor 1 measurement
EFO:0004747	EFO:0004792	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004792	"Is a quantification of plasminogen activator inhibitor 1 a serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis" []	207962	\N	\N	EFO	1	EFO	protein measurement	plasminogen activator inhibitor 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004792	"Is a quantification of plasminogen activator inhibitor 1 a serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis" []	561116	\N	\N	EFO	2	EFO	measurement	plasminogen activator inhibitor 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004792	"Is a quantification of plasminogen activator inhibitor 1 a serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis" []	1142884	\N	\N	EFO	3	EFO	information entity	plasminogen activator inhibitor 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004792	"Is a quantification of plasminogen activator inhibitor 1 a serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis" []	2025636	\N	\N	EFO	4	EFO	experimental factor	plasminogen activator inhibitor 1 measurement
EFO:0004795	\N	\N	"The response of human skin to sun exposure." []	EFO:0004795	"The response of human skin to sun exposure." []	66643	\N	\N	EFO	0	EFO	skin sensitivity to sun	skin sensitivity to sun
EFO:1000752	EFO:0004795	\N	"Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." []	EFO:0004795	"The response of human skin to sun exposure." []	207963	\N	\N	EFO	1	EFO	photosensitivity disease	skin sensitivity to sun
EFO:0000701	EFO:1000752	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0004795	"The response of human skin to sun exposure." []	561117	\N	\N	EFO	2	EFO	skin disease	skin sensitivity to sun
EFO:0003785	EFO:1000752	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0004795	"The response of human skin to sun exposure." []	561118	\N	\N	EFO	2	EFO	allergy	skin sensitivity to sun
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004795	"The response of human skin to sun exposure." []	1142885	\N	\N	EFO	3	EFO	disease	skin sensitivity to sun
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004795	"The response of human skin to sun exposure." []	1142886	\N	\N	EFO	3	EFO	immune system disease	skin sensitivity to sun
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004795	"The response of human skin to sun exposure." []	3178209	\N	\N	EFO	5	EFO	disposition	skin sensitivity to sun
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004795	"The response of human skin to sun exposure." []	2025638	\N	\N	EFO	4	EFO	disease	skin sensitivity to sun
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004795	"The response of human skin to sun exposure." []	4132665	\N	\N	EFO	6	EFO	material property	skin sensitivity to sun
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004795	"The response of human skin to sun exposure." []	5180986	\N	\N	EFO	7	EFO	experimental factor	skin sensitivity to sun
EFO:0004798	\N	\N	"A quantification of a genomic variation that increases or decreases the copy number of a given region." []	EFO:0004798	"A quantification of a genomic variation that increases or decreases the copy number of a given region." []	66644	\N	\N	EFO	0	EFO	copy number variation	copy number variation
EFO:0004554	EFO:0004798	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0004798	"A quantification of a genomic variation that increases or decreases the copy number of a given region." []	207964	\N	\N	EFO	1	EFO	genomic measurement	copy number variation
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004798	"A quantification of a genomic variation that increases or decreases the copy number of a given region." []	561119	\N	\N	EFO	2	EFO	measurement	copy number variation
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004798	"A quantification of a genomic variation that increases or decreases the copy number of a given region." []	1142887	\N	\N	EFO	3	EFO	information entity	copy number variation
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004798	"A quantification of a genomic variation that increases or decreases the copy number of a given region." []	2025639	\N	\N	EFO	4	EFO	experimental factor	copy number variation
EFO:0004799	\N	\N	"Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." []	EFO:0004799	"Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." []	66645	\N	\N	EFO	0	EFO	cholelithiasis	cholelithiasis
EFO:0003832	EFO:0004799	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:0004799	"Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." []	207965	\N	\N	EFO	1	EFO	gallbladder disease	cholelithiasis
EFO:1000018	EFO:0004799	\N	"A disorder affecting the urinary bladder" []	EFO:0004799	"Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." []	207966	\N	\N	EFO	1	EFO	bladder disease	cholelithiasis
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0004799	"Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." []	561120	\N	\N	EFO	2	EFO	digestive system disease	cholelithiasis
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004799	"Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." []	561121	\N	\N	EFO	2	EFO	disease	cholelithiasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004799	"Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." []	1142888	\N	\N	EFO	3	EFO	disease	cholelithiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004799	"Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." []	2025640	\N	\N	EFO	4	EFO	disposition	cholelithiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004799	"Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." []	2999599	\N	\N	EFO	5	EFO	material property	cholelithiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004799	"Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." []	4132666	\N	\N	EFO	6	EFO	experimental factor	cholelithiasis
EFO:0004800	\N	\N	"Is a quantification of frontal theta event related oscillations, determined by target processing in an oddball paradigm." []	EFO:0004800	"Is a quantification of frontal theta event related oscillations, determined by target processing in an oddball paradigm." []	66646	\N	\N	EFO	0	EFO	frontal theta oscillation measurement	frontal theta oscillation measurement
EFO:0001444	EFO:0004800	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004800	"Is a quantification of frontal theta event related oscillations, determined by target processing in an oddball paradigm." []	207967	\N	\N	EFO	1	EFO	measurement	frontal theta oscillation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004800	"Is a quantification of frontal theta event related oscillations, determined by target processing in an oddball paradigm." []	561122	\N	\N	EFO	2	EFO	information entity	frontal theta oscillation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004800	"Is a quantification of frontal theta event related oscillations, determined by target processing in an oddball paradigm." []	1142890	\N	\N	EFO	3	EFO	experimental factor	frontal theta oscillation measurement
EFO:0004802	\N	\N	"Is a quantification of family size, also used as a measure of male fertility." []	EFO:0004802	"Is a quantification of family size, also used as a measure of male fertility." []	66647	\N	\N	EFO	0	EFO	family size	family size
EFO:0001444	EFO:0004802	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004802	"Is a quantification of family size, also used as a measure of male fertility." []	207968	\N	\N	EFO	1	EFO	measurement	family size
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004802	"Is a quantification of family size, also used as a measure of male fertility." []	561123	\N	\N	EFO	2	EFO	information entity	family size
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004802	"Is a quantification of family size, also used as a measure of male fertility." []	1142891	\N	\N	EFO	3	EFO	experimental factor	family size
EFO:0004803	\N	\N	"A fertility quality of inhering in a male by virtue of the bearer's disposition to initiate, sustain, or support reproduction." []	EFO:0004803	"A fertility quality of inhering in a male by virtue of the bearer's disposition to initiate, sustain, or support reproduction." []	66648	\N	\N	EFO	0	EFO	male fertility	male fertility
EFO:0000651	EFO:0004803	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0004803	"A fertility quality of inhering in a male by virtue of the bearer's disposition to initiate, sustain, or support reproduction." []	207969	\N	\N	EFO	1	EFO	phenotype	male fertility
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004803	"A fertility quality of inhering in a male by virtue of the bearer's disposition to initiate, sustain, or support reproduction." []	561124	\N	\N	EFO	2	EFO	quality	male fertility
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004803	"A fertility quality of inhering in a male by virtue of the bearer's disposition to initiate, sustain, or support reproduction." []	1142892	\N	\N	EFO	3	EFO	material property	male fertility
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004803	"A fertility quality of inhering in a male by virtue of the bearer's disposition to initiate, sustain, or support reproduction." []	2025642	\N	\N	EFO	4	EFO	experimental factor	male fertility
EFO:0004804	\N	\N	"Is a quantification of birth rate, te ratio of live births in an area to the population of that area, expressed per 1000 people in the population per year. Also used as a measure of male fertility" []	EFO:0004804	"Is a quantification of birth rate, te ratio of live births in an area to the population of that area, expressed per 1000 people in the population per year. Also used as a measure of male fertility" []	66649	\N	\N	EFO	0	EFO	birth rate	birth rate
EFO:0001444	EFO:0004804	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004804	"Is a quantification of birth rate, te ratio of live births in an area to the population of that area, expressed per 1000 people in the population per year. Also used as a measure of male fertility" []	207970	\N	\N	EFO	1	EFO	measurement	birth rate
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004804	"Is a quantification of birth rate, te ratio of live births in an area to the population of that area, expressed per 1000 people in the population per year. Also used as a measure of male fertility" []	561125	\N	\N	EFO	2	EFO	information entity	birth rate
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004804	"Is a quantification of birth rate, te ratio of live births in an area to the population of that area, expressed per 1000 people in the population per year. Also used as a measure of male fertility" []	1142893	\N	\N	EFO	3	EFO	experimental factor	birth rate
EFO:0004805	\N	\N	"Formal thought disorder (FTD), or disorganized speech, is one of the central signs of schizophrenia" []	EFO:0004805	"Formal thought disorder (FTD), or disorganized speech, is one of the central signs of schizophrenia" []	66650	\N	\N	EFO	0	EFO	formal thought disorder	formal thought disorder
HP:0000708	\N	\N	"An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson]	EFO:0004805	"Formal thought disorder (FTD), or disorganized speech, is one of the central signs of schizophrenia" []	194680	\N	\N	EFO	0	EFO	Behavioral abnormality	formal thought disorder
EFO:0004806	\N	\N	"Is a quantification of some asbestos exposure," []	EFO:0004806	"Is a quantification of some asbestos exposure," []	66651	\N	\N	EFO	0	EFO	asbestos exposure measurement	asbestos exposure measurement
EFO:0006841	EFO:0004806	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0004806	"Is a quantification of some asbestos exposure," []	207971	\N	\N	EFO	1	EFO	respiratory disease biomarker	asbestos exposure measurement
EFO:0008360	EFO:0004806	\N	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	EFO:0004806	"Is a quantification of some asbestos exposure," []	207972	\N	\N	EFO	1	EFO	environmental exposure measurement	asbestos exposure measurement
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004806	"Is a quantification of some asbestos exposure," []	561126	\N	\N	EFO	2	EFO	measurement	asbestos exposure measurement
EFO:0001444	EFO:0008360	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004806	"Is a quantification of some asbestos exposure," []	561127	\N	\N	EFO	2	EFO	measurement	asbestos exposure measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004806	"Is a quantification of some asbestos exposure," []	1142894	\N	\N	EFO	3	EFO	information entity	asbestos exposure measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004806	"Is a quantification of some asbestos exposure," []	2025643	\N	\N	EFO	4	EFO	experimental factor	asbestos exposure measurement
EFO:0004807	\N	\N	"Is a quantification of sleep time in humans where average sleep time was less than five hours." []	EFO:0004807	"Is a quantification of sleep time in humans where average sleep time was less than five hours." []	66652	\N	\N	EFO	0	EFO	short sleep	short sleep
EFO:0000719	EFO:0004807	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004807	"Is a quantification of sleep time in humans where average sleep time was less than five hours." []	207973	\N	\N	EFO	1	EFO	temporal measurement	short sleep
EFO:0004870	EFO:0004807	\N	"Is a quantification of some sleep parameter." []	EFO:0004807	"Is a quantification of sleep time in humans where average sleep time was less than five hours." []	207974	\N	\N	EFO	1	EFO	sleep measurement	short sleep
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004807	"Is a quantification of sleep time in humans where average sleep time was less than five hours." []	561128	\N	\N	EFO	2	EFO	measurement	short sleep
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004807	"Is a quantification of sleep time in humans where average sleep time was less than five hours." []	561129	\N	\N	EFO	2	EFO	measurement	short sleep
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004807	"Is a quantification of sleep time in humans where average sleep time was less than five hours." []	1142895	\N	\N	EFO	3	EFO	information entity	short sleep
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004807	"Is a quantification of sleep time in humans where average sleep time was less than five hours." []	2025644	\N	\N	EFO	4	EFO	experimental factor	short sleep
EFO:0004808	\N	\N	"Is a quantification of L lactate dehydrodgenase, typically measured in serum, used as a marker of tissue breakdown as LDH is abundant in red blood cells and can function as a marker for hemolysis" []	EFO:0004808	"Is a quantification of L lactate dehydrodgenase, typically measured in serum, used as a marker of tissue breakdown as LDH is abundant in red blood cells and can function as a marker for hemolysis" []	66653	\N	\N	EFO	0	EFO	L lactate dehydrogenase measurement	L lactate dehydrogenase measurement
EFO:0004503	EFO:0004808	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004808	"Is a quantification of L lactate dehydrodgenase, typically measured in serum, used as a marker of tissue breakdown as LDH is abundant in red blood cells and can function as a marker for hemolysis" []	207975	\N	\N	EFO	1	EFO	hematological measurement	L lactate dehydrogenase measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004808	"Is a quantification of L lactate dehydrodgenase, typically measured in serum, used as a marker of tissue breakdown as LDH is abundant in red blood cells and can function as a marker for hemolysis" []	561130	\N	\N	EFO	2	EFO	measurement	L lactate dehydrogenase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004808	"Is a quantification of L lactate dehydrodgenase, typically measured in serum, used as a marker of tissue breakdown as LDH is abundant in red blood cells and can function as a marker for hemolysis" []	1142896	\N	\N	EFO	3	EFO	information entity	L lactate dehydrogenase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004808	"Is a quantification of L lactate dehydrodgenase, typically measured in serum, used as a marker of tissue breakdown as LDH is abundant in red blood cells and can function as a marker for hemolysis" []	2025645	\N	\N	EFO	4	EFO	experimental factor	L lactate dehydrogenase measurement
EFO:0004809	\N	\N	"Is a quantification of Fructose-Bisphosphate Aldolase,is an enzyme catalyzing a reversible reaction that splits the aldol, fructose 1,6-bisphosphate, into the triose phosphates dihydroxyacetone phosphate (DHAP) and glyceraldehyde 3-phosphate (GAP)." []	EFO:0004809	"Is a quantification of Fructose-Bisphosphate Aldolase,is an enzyme catalyzing a reversible reaction that splits the aldol, fructose 1,6-bisphosphate, into the triose phosphates dihydroxyacetone phosphate (DHAP) and glyceraldehyde 3-phosphate (GAP)." []	66654	\N	\N	EFO	0	EFO	fructose-bisphosphate aldolase measurement	fructose-bisphosphate aldolase measurement
EFO:0001444	EFO:0004809	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004809	"Is a quantification of Fructose-Bisphosphate Aldolase,is an enzyme catalyzing a reversible reaction that splits the aldol, fructose 1,6-bisphosphate, into the triose phosphates dihydroxyacetone phosphate (DHAP) and glyceraldehyde 3-phosphate (GAP)." []	207976	\N	\N	EFO	1	EFO	measurement	fructose-bisphosphate aldolase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004809	"Is a quantification of Fructose-Bisphosphate Aldolase,is an enzyme catalyzing a reversible reaction that splits the aldol, fructose 1,6-bisphosphate, into the triose phosphates dihydroxyacetone phosphate (DHAP) and glyceraldehyde 3-phosphate (GAP)." []	561131	\N	\N	EFO	2	EFO	information entity	fructose-bisphosphate aldolase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004809	"Is a quantification of Fructose-Bisphosphate Aldolase,is an enzyme catalyzing a reversible reaction that splits the aldol, fructose 1,6-bisphosphate, into the triose phosphates dihydroxyacetone phosphate (DHAP) and glyceraldehyde 3-phosphate (GAP)." []	1142897	\N	\N	EFO	3	EFO	experimental factor	fructose-bisphosphate aldolase measurement
EFO:0004810	\N	\N	"Is a quantification of interleukin-6, a  pro-inflammatory and anti-inflammatory cytokine." []	EFO:0004810	"Is a quantification of interleukin-6, a  pro-inflammatory and anti-inflammatory cytokine." []	66655	\N	\N	EFO	0	EFO	interleukin-6 measurement	interleukin-6 measurement
EFO:0004872	EFO:0004810	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004810	"Is a quantification of interleukin-6, a  pro-inflammatory and anti-inflammatory cytokine." []	207977	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	interleukin-6 measurement
EFO:0004873	EFO:0004810	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004810	"Is a quantification of interleukin-6, a  pro-inflammatory and anti-inflammatory cytokine." []	207978	\N	\N	EFO	1	EFO	cytokine measurement	interleukin-6 measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004810	"Is a quantification of interleukin-6, a  pro-inflammatory and anti-inflammatory cytokine." []	561132	\N	\N	EFO	2	EFO	measurement	interleukin-6 measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004810	"Is a quantification of interleukin-6, a  pro-inflammatory and anti-inflammatory cytokine." []	561133	\N	\N	EFO	2	EFO	protein measurement	interleukin-6 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004810	"Is a quantification of interleukin-6, a  pro-inflammatory and anti-inflammatory cytokine." []	2025647	\N	\N	EFO	4	EFO	information entity	interleukin-6 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004810	"Is a quantification of interleukin-6, a  pro-inflammatory and anti-inflammatory cytokine." []	1142899	\N	\N	EFO	3	EFO	measurement	interleukin-6 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004810	"Is a quantification of interleukin-6, a  pro-inflammatory and anti-inflammatory cytokine." []	2999600	\N	\N	EFO	5	EFO	experimental factor	interleukin-6 measurement
EFO:0004811	\N	\N	"Is a quantification of interleukin-8, is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies. IL-8 is secreted and is an important mediator of the immune reaction in the innate immune system response." []	EFO:0004811	"Is a quantification of interleukin-8, is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies. IL-8 is secreted and is an important mediator of the immune reaction in the innate immune system response." []	66656	\N	\N	EFO	0	EFO	interleukin-8 measurement	interleukin-8 measurement
EFO:0004872	EFO:0004811	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004811	"Is a quantification of interleukin-8, is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies. IL-8 is secreted and is an important mediator of the immune reaction in the innate immune system response." []	207979	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	interleukin-8 measurement
EFO:0004873	EFO:0004811	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004811	"Is a quantification of interleukin-8, is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies. IL-8 is secreted and is an important mediator of the immune reaction in the innate immune system response." []	207980	\N	\N	EFO	1	EFO	cytokine measurement	interleukin-8 measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004811	"Is a quantification of interleukin-8, is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies. IL-8 is secreted and is an important mediator of the immune reaction in the innate immune system response." []	561134	\N	\N	EFO	2	EFO	measurement	interleukin-8 measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004811	"Is a quantification of interleukin-8, is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies. IL-8 is secreted and is an important mediator of the immune reaction in the innate immune system response." []	561135	\N	\N	EFO	2	EFO	protein measurement	interleukin-8 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004811	"Is a quantification of interleukin-8, is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies. IL-8 is secreted and is an important mediator of the immune reaction in the innate immune system response." []	2025649	\N	\N	EFO	4	EFO	information entity	interleukin-8 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004811	"Is a quantification of interleukin-8, is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies. IL-8 is secreted and is an important mediator of the immune reaction in the innate immune system response." []	1142901	\N	\N	EFO	3	EFO	measurement	interleukin-8 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004811	"Is a quantification of interleukin-8, is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies. IL-8 is secreted and is an important mediator of the immune reaction in the innate immune system response." []	2999601	\N	\N	EFO	5	EFO	experimental factor	interleukin-8 measurement
EFO:0004812	\N	\N	"Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response." []	EFO:0004812	"Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response." []	66657	\N	\N	EFO	0	EFO	interleukin-1 beta measurement	interleukin-1 beta measurement
EFO:0004872	EFO:0004812	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004812	"Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response." []	207981	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	interleukin-1 beta measurement
EFO:0004873	EFO:0004812	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004812	"Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response." []	207982	\N	\N	EFO	1	EFO	cytokine measurement	interleukin-1 beta measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004812	"Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response." []	561136	\N	\N	EFO	2	EFO	measurement	interleukin-1 beta measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004812	"Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response." []	561137	\N	\N	EFO	2	EFO	protein measurement	interleukin-1 beta measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004812	"Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response." []	2025651	\N	\N	EFO	4	EFO	information entity	interleukin-1 beta measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004812	"Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response." []	1142903	\N	\N	EFO	3	EFO	measurement	interleukin-1 beta measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004812	"Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response." []	2999602	\N	\N	EFO	5	EFO	experimental factor	interleukin-1 beta measurement
EFO:0004813	\N	\N	"Is a quantification of any of the alpha globulin class of proteins, typically in serum." []	EFO:0004813	"Is a quantification of any of the alpha globulin class of proteins, typically in serum." []	66658	\N	\N	EFO	0	EFO	alpha globulin measurement	alpha globulin measurement
EFO:0004747	EFO:0004813	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004813	"Is a quantification of any of the alpha globulin class of proteins, typically in serum." []	207983	\N	\N	EFO	1	EFO	protein measurement	alpha globulin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004813	"Is a quantification of any of the alpha globulin class of proteins, typically in serum." []	561138	\N	\N	EFO	2	EFO	measurement	alpha globulin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004813	"Is a quantification of any of the alpha globulin class of proteins, typically in serum." []	1142904	\N	\N	EFO	3	EFO	information entity	alpha globulin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004813	"Is a quantification of any of the alpha globulin class of proteins, typically in serum." []	2025652	\N	\N	EFO	4	EFO	experimental factor	alpha globulin measurement
EFO:0004814	\N	\N	"Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis. Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation." []	EFO:0004814	"Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis. Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation." []	66659	\N	\N	EFO	0	EFO	interleukin-6 receptor measurement	interleukin-6 receptor measurement
EFO:0004872	EFO:0004814	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004814	"Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis. Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation." []	207984	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	interleukin-6 receptor measurement
EFO:0004873	EFO:0004814	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004814	"Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis. Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation." []	207985	\N	\N	EFO	1	EFO	cytokine measurement	interleukin-6 receptor measurement
EFO:0006514	EFO:0004814	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0004814	"Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis. Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation." []	207986	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	interleukin-6 receptor measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004814	"Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis. Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation." []	561139	\N	\N	EFO	2	EFO	measurement	interleukin-6 receptor measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004814	"Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis. Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation." []	561140	\N	\N	EFO	2	EFO	protein measurement	interleukin-6 receptor measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004814	"Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis. Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation." []	561141	\N	\N	EFO	2	EFO	measurement	interleukin-6 receptor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004814	"Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis. Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation." []	2025654	\N	\N	EFO	4	EFO	information entity	interleukin-6 receptor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004814	"Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis. Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation." []	1142906	\N	\N	EFO	3	EFO	measurement	interleukin-6 receptor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004814	"Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis. Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation." []	2999603	\N	\N	EFO	5	EFO	experimental factor	interleukin-6 receptor measurement
EFO:0004815	\N	\N	"Is a quantification of alphamacroglobulins 1 and/or 2, glycoproteins with a molecular weight of approximately 620,000 to 680,000. Precipitation by electrophoresis is in the alpha region. They include alpha 1-macroglobulins and alpha 2-macroglobulins. These proteins exhibit trypsin-, chymotrypsin-, thrombin-, and plasmin-binding activity and function as hormonal transporters. Chronic kidney disease can result in the leakage of alphamacroglobulins into the blood." []	EFO:0004815	"Is a quantification of alphamacroglobulins 1 and/or 2, glycoproteins with a molecular weight of approximately 620,000 to 680,000. Precipitation by electrophoresis is in the alpha region. They include alpha 1-macroglobulins and alpha 2-macroglobulins. These proteins exhibit trypsin-, chymotrypsin-, thrombin-, and plasmin-binding activity and function as hormonal transporters. Chronic kidney disease can result in the leakage of alphamacroglobulins into the blood." []	66660	\N	\N	EFO	0	EFO	alpha macroglobulin measurement	alpha macroglobulin measurement
EFO:0004742	EFO:0004815	\N	"Is a quantification of some renal system biomarker" []	EFO:0004815	"Is a quantification of alphamacroglobulins 1 and/or 2, glycoproteins with a molecular weight of approximately 620,000 to 680,000. Precipitation by electrophoresis is in the alpha region. They include alpha 1-macroglobulins and alpha 2-macroglobulins. These proteins exhibit trypsin-, chymotrypsin-, thrombin-, and plasmin-binding activity and function as hormonal transporters. Chronic kidney disease can result in the leakage of alphamacroglobulins into the blood." []	207987	\N	\N	EFO	1	EFO	renal system measurement	alpha macroglobulin measurement
EFO:0001444	EFO:0004742	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004815	"Is a quantification of alphamacroglobulins 1 and/or 2, glycoproteins with a molecular weight of approximately 620,000 to 680,000. Precipitation by electrophoresis is in the alpha region. They include alpha 1-macroglobulins and alpha 2-macroglobulins. These proteins exhibit trypsin-, chymotrypsin-, thrombin-, and plasmin-binding activity and function as hormonal transporters. Chronic kidney disease can result in the leakage of alphamacroglobulins into the blood." []	561142	\N	\N	EFO	2	EFO	measurement	alpha macroglobulin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004815	"Is a quantification of alphamacroglobulins 1 and/or 2, glycoproteins with a molecular weight of approximately 620,000 to 680,000. Precipitation by electrophoresis is in the alpha region. They include alpha 1-macroglobulins and alpha 2-macroglobulins. These proteins exhibit trypsin-, chymotrypsin-, thrombin-, and plasmin-binding activity and function as hormonal transporters. Chronic kidney disease can result in the leakage of alphamacroglobulins into the blood." []	1142907	\N	\N	EFO	3	EFO	information entity	alpha macroglobulin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004815	"Is a quantification of alphamacroglobulins 1 and/or 2, glycoproteins with a molecular weight of approximately 620,000 to 680,000. Precipitation by electrophoresis is in the alpha region. They include alpha 1-macroglobulins and alpha 2-macroglobulins. These proteins exhibit trypsin-, chymotrypsin-, thrombin-, and plasmin-binding activity and function as hormonal transporters. Chronic kidney disease can result in the leakage of alphamacroglobulins into the blood." []	2025655	\N	\N	EFO	4	EFO	experimental factor	alpha macroglobulin measurement
EFO:0004818	\N	\N	"Is a quantification of any of the TF1b isoforms, TGF-beta acts as an antiproliferative factor in normal epithelial cells and at early stages of oncogenesis." []	EFO:0004818	"Is a quantification of any of the TF1b isoforms, TGF-beta acts as an antiproliferative factor in normal epithelial cells and at early stages of oncogenesis." []	66661	\N	\N	EFO	0	EFO	transforming growth factor beta measurement	transforming growth factor beta measurement
EFO:0004872	EFO:0004818	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004818	"Is a quantification of any of the TF1b isoforms, TGF-beta acts as an antiproliferative factor in normal epithelial cells and at early stages of oncogenesis." []	207988	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	transforming growth factor beta measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004818	"Is a quantification of any of the TF1b isoforms, TGF-beta acts as an antiproliferative factor in normal epithelial cells and at early stages of oncogenesis." []	561143	\N	\N	EFO	2	EFO	measurement	transforming growth factor beta measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004818	"Is a quantification of any of the TF1b isoforms, TGF-beta acts as an antiproliferative factor in normal epithelial cells and at early stages of oncogenesis." []	1142908	\N	\N	EFO	3	EFO	information entity	transforming growth factor beta measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004818	"Is a quantification of any of the TF1b isoforms, TGF-beta acts as an antiproliferative factor in normal epithelial cells and at early stages of oncogenesis." []	2025656	\N	\N	EFO	4	EFO	experimental factor	transforming growth factor beta measurement
EFO:0004819	\N	\N	"Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies" []	EFO:0004819	"Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies" []	66662	\N	\N	EFO	0	EFO	resistin measurement	resistin measurement
EFO:0004873	EFO:0004819	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004819	"Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies" []	207989	\N	\N	EFO	1	EFO	cytokine measurement	resistin measurement
EFO:0006842	EFO:0004819	\N	"" []	EFO:0004819	"Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies" []	207990	\N	\N	EFO	1	EFO	diabetes mellitus biomarker	resistin measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004819	"Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies" []	561144	\N	\N	EFO	2	EFO	protein measurement	resistin measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004819	"Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies" []	561145	\N	\N	EFO	2	EFO	measurement	resistin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004819	"Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies" []	1142909	\N	\N	EFO	3	EFO	measurement	resistin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004819	"Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies" []	2025657	\N	\N	EFO	4	EFO	information entity	resistin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004819	"Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies" []	2999604	\N	\N	EFO	5	EFO	experimental factor	resistin measurement
EFO:0004820	\N	\N	"The number of males per 100 females, usually counted for live births but sometimes applied at a later life stage" []	EFO:0004820	"The number of males per 100 females, usually counted for live births but sometimes applied at a later life stage" []	66663	\N	\N	EFO	0	EFO	sex ratio	sex ratio
EFO:0004557	EFO:0004820	\N	"Is the quantification of some measureable quality of a population e.g. birth rate." []	EFO:0004820	"The number of males per 100 females, usually counted for live births but sometimes applied at a later life stage" []	207991	\N	\N	EFO	1	EFO	population measurement	sex ratio
EFO:0001444	EFO:0004557	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004820	"The number of males per 100 females, usually counted for live births but sometimes applied at a later life stage" []	561146	\N	\N	EFO	2	EFO	measurement	sex ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004820	"The number of males per 100 females, usually counted for live births but sometimes applied at a later life stage" []	1142911	\N	\N	EFO	3	EFO	information entity	sex ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004820	"The number of males per 100 females, usually counted for live births but sometimes applied at a later life stage" []	2025659	\N	\N	EFO	4	EFO	experimental factor	sex ratio
EFO:0004823	\N	\N	"The perception of facial expression" []	EFO:0004823	"The perception of facial expression" []	66664	\N	\N	EFO	0	EFO	perception of facial expression	perception of facial expression
EFO:0003925	EFO:0004823	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0004823	"The perception of facial expression" []	207992	\N	\N	EFO	1	EFO	cognition	perception of facial expression
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0004823	"The perception of facial expression" []	561147	\N	\N	EFO	2	EFO	mental process	perception of facial expression
EFO:0004825	\N	\N	"An inventory for personality traits devised by Cloninger et al. Traits scored include:\\nNovelty Seeking (NS)\\nHarm Avoidance (HA)\\nReward Dependence (RD)\\nPersistence (PS)\\nSelf-Directedness (SD)\\nCooperativeness (CO)\\nSelf-Transcendence (ST)" []	EFO:0004825	"An inventory for personality traits devised by Cloninger et al. Traits scored include:\\nNovelty Seeking (NS)\\nHarm Avoidance (HA)\\nReward Dependence (RD)\\nPersistence (PS)\\nSelf-Directedness (SD)\\nCooperativeness (CO)\\nSelf-Transcendence (ST)" []	66665	\N	\N	EFO	0	EFO	temperament and character inventory	temperament and character inventory
EFO:0001444	EFO:0004825	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004825	"An inventory for personality traits devised by Cloninger et al. Traits scored include:\\nNovelty Seeking (NS)\\nHarm Avoidance (HA)\\nReward Dependence (RD)\\nPersistence (PS)\\nSelf-Directedness (SD)\\nCooperativeness (CO)\\nSelf-Transcendence (ST)" []	207993	\N	\N	EFO	1	EFO	measurement	temperament and character inventory
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004825	"An inventory for personality traits devised by Cloninger et al. Traits scored include:\\nNovelty Seeking (NS)\\nHarm Avoidance (HA)\\nReward Dependence (RD)\\nPersistence (PS)\\nSelf-Directedness (SD)\\nCooperativeness (CO)\\nSelf-Transcendence (ST)" []	561148	\N	\N	EFO	2	EFO	information entity	temperament and character inventory
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004825	"An inventory for personality traits devised by Cloninger et al. Traits scored include:\\nNovelty Seeking (NS)\\nHarm Avoidance (HA)\\nReward Dependence (RD)\\nPersistence (PS)\\nSelf-Directedness (SD)\\nCooperativeness (CO)\\nSelf-Transcendence (ST)" []	1142912	\N	\N	EFO	3	EFO	experimental factor	temperament and character inventory
EFO:0004826	\N	\N	"Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." []	EFO:0004826	"Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." []	66666	\N	\N	EFO	0	EFO	anti-neutrophil antibody associated vasculitis	anti-neutrophil antibody associated vasculitis
EFO:0005140	EFO:0004826	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0004826	"Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." []	207994	\N	\N	EFO	1	EFO	autoimmune disease	anti-neutrophil antibody associated vasculitis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004826	"Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." []	561149	\N	\N	EFO	2	EFO	immune system disease	anti-neutrophil antibody associated vasculitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004826	"Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." []	1142913	\N	\N	EFO	3	EFO	disease	anti-neutrophil antibody associated vasculitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004826	"Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." []	2025660	\N	\N	EFO	4	EFO	disposition	anti-neutrophil antibody associated vasculitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004826	"Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." []	3178211	\N	\N	EFO	5	EFO	material property	anti-neutrophil antibody associated vasculitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004826	"Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." []	4388110	\N	\N	EFO	6	EFO	experimental factor	anti-neutrophil antibody associated vasculitis
EFO:0004827	\N	\N	"Human economic and social preferences determined by application of a survey or questionnaire." []	EFO:0004827	"Human economic and social preferences determined by application of a survey or questionnaire." []	66667	\N	\N	EFO	0	EFO	economic and social preference	economic and social preference
BFO:0000019	EFO:0004827	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004827	"Human economic and social preferences determined by application of a survey or questionnaire." []	207995	\N	\N	EFO	1	EFO	quality	economic and social preference
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004827	"Human economic and social preferences determined by application of a survey or questionnaire." []	561150	\N	\N	EFO	2	EFO	material property	economic and social preference
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004827	"Human economic and social preferences determined by application of a survey or questionnaire." []	1142914	\N	\N	EFO	3	EFO	experimental factor	economic and social preference
EFO:0004828	\N	\N	"The genetic variation of individuals in a population." []	EFO:0004828	"The genetic variation of individuals in a population." []	66668	\N	\N	EFO	0	EFO	genetic variation	genetic variation
EFO:0004554	EFO:0004828	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0004828	"The genetic variation of individuals in a population." []	207996	\N	\N	EFO	1	EFO	genomic measurement	genetic variation
EFO:0004557	EFO:0004828	\N	"Is the quantification of some measureable quality of a population e.g. birth rate." []	EFO:0004828	"The genetic variation of individuals in a population." []	207997	\N	\N	EFO	1	EFO	population measurement	genetic variation
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004828	"The genetic variation of individuals in a population." []	561151	\N	\N	EFO	2	EFO	measurement	genetic variation
EFO:0001444	EFO:0004557	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004828	"The genetic variation of individuals in a population." []	561152	\N	\N	EFO	2	EFO	measurement	genetic variation
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004828	"The genetic variation of individuals in a population." []	1142915	\N	\N	EFO	3	EFO	information entity	genetic variation
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004828	"The genetic variation of individuals in a population." []	2025661	\N	\N	EFO	4	EFO	experimental factor	genetic variation
EFO:0004829	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an irinotecan stimulus. Irinotecan prevents DNA from unwinding by inhibition of topoisomerase 1. In chemical terms, it is a semisynthetic analogue of the natural alkaloid camptothecin\\nts main use is in colon cancer, in particular, in combination with other chemotherapy agents. This includes the regimen FOLFIRI, which consists of infusional 5-fluorouracil, leucovorin, and irinotecan." []	EFO:0004829	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an irinotecan stimulus. Irinotecan prevents DNA from unwinding by inhibition of topoisomerase 1. In chemical terms, it is a semisynthetic analogue of the natural alkaloid camptothecin\\nts main use is in colon cancer, in particular, in combination with other chemotherapy agents. This includes the regimen FOLFIRI, which consists of infusional 5-fluorouracil, leucovorin, and irinotecan." []	66669	\N	\N	EFO	0	EFO	response to irinotecan	response to irinotecan
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0004829	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an irinotecan stimulus. Irinotecan prevents DNA from unwinding by inhibition of topoisomerase 1. In chemical terms, it is a semisynthetic analogue of the natural alkaloid camptothecin\\nts main use is in colon cancer, in particular, in combination with other chemotherapy agents. This includes the regimen FOLFIRI, which consists of infusional 5-fluorouracil, leucovorin, and irinotecan." []	194681	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to irinotecan
EFO:0004830	\N	\N	"The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders" []	EFO:0004830	"The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders" []	66670	\N	\N	EFO	0	EFO	caudate nucleus volume	caudate nucleus volume
EFO:0006514	EFO:0004830	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0004830	"The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders" []	207998	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	caudate nucleus volume
EFO:0006930	EFO:0004830	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0004830	"The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders" []	207999	\N	\N	EFO	1	EFO	brain volume measurement	caudate nucleus volume
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004830	"The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders" []	561153	\N	\N	EFO	2	EFO	measurement	caudate nucleus volume
EFO:0004464	EFO:0006930	\N	"" []	EFO:0004830	"The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders" []	561154	\N	\N	EFO	2	EFO	brain measurement	caudate nucleus volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004830	"The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders" []	2025663	\N	\N	EFO	4	EFO	information entity	caudate nucleus volume
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004830	"The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders" []	1142917	\N	\N	EFO	3	EFO	measurement	caudate nucleus volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004830	"The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders" []	2999605	\N	\N	EFO	5	EFO	experimental factor	caudate nucleus volume
EFO:0004831	\N	\N	"A RR interval is an  electrocardiography measurement  - R wave to R wave interval (RR interval) and is the inverse of the heart rate." []	EFO:0004831	"A RR interval is an  electrocardiography measurement  - R wave to R wave interval (RR interval) and is the inverse of the heart rate." []	66671	\N	\N	EFO	0	EFO	RR interval	RR interval
EFO:0004327	EFO:0004831	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0004831	"A RR interval is an  electrocardiography measurement  - R wave to R wave interval (RR interval) and is the inverse of the heart rate." []	208000	\N	\N	EFO	1	EFO	electrocardiography	RR interval
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0004831	"A RR interval is an  electrocardiography measurement  - R wave to R wave interval (RR interval) and is the inverse of the heart rate." []	561155	\N	\N	EFO	2	EFO	heart function measurement	RR interval
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004831	"A RR interval is an  electrocardiography measurement  - R wave to R wave interval (RR interval) and is the inverse of the heart rate." []	1142918	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	RR interval
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004831	"A RR interval is an  electrocardiography measurement  - R wave to R wave interval (RR interval) and is the inverse of the heart rate." []	2025664	\N	\N	EFO	4	EFO	cardiovascular measurement	RR interval
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004831	"A RR interval is an  electrocardiography measurement  - R wave to R wave interval (RR interval) and is the inverse of the heart rate." []	3178212	\N	\N	EFO	5	EFO	measurement	RR interval
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004831	"A RR interval is an  electrocardiography measurement  - R wave to R wave interval (RR interval) and is the inverse of the heart rate." []	4388111	\N	\N	EFO	6	EFO	information entity	RR interval
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004831	"A RR interval is an  electrocardiography measurement  - R wave to R wave interval (RR interval) and is the inverse of the heart rate." []	5408763	\N	\N	EFO	7	EFO	experimental factor	RR interval
EFO:0004832	\N	\N	"Is a quantification of the optic disk size" []	EFO:0004832	"Is a quantification of the optic disk size" []	66672	\N	\N	EFO	0	EFO	optic disc size measurement	optic disc size measurement
EFO:0006936	EFO:0004832	\N	"optic nerve head measurement" []	EFO:0004832	"Is a quantification of the optic disk size" []	208001	\N	\N	EFO	1	EFO	optic disc measurement	optic disc size measurement
EFO:0001444	EFO:0006936	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004832	"Is a quantification of the optic disk size" []	561156	\N	\N	EFO	2	EFO	measurement	optic disc size measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004832	"Is a quantification of the optic disk size" []	1142919	\N	\N	EFO	3	EFO	information entity	optic disc size measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004832	"Is a quantification of the optic disk size" []	2025665	\N	\N	EFO	4	EFO	experimental factor	optic disc size measurement
EFO:0004833	\N	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0004833	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	66673	\N	\N	EFO	0	EFO	neutrophil count	neutrophil count
EFO:0007987	EFO:0004833	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0004833	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	208002	\N	\N	EFO	1	EFO	granulocyte count	neutrophil count
EFO:0007988	EFO:0007987	\N	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0004833	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	561157	\N	\N	EFO	2	EFO	myeloid white cell count	neutrophil count
EFO:0004308	EFO:0007988	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0004833	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	1142920	\N	\N	EFO	3	EFO	leukocyte count	neutrophil count
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004833	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	2025666	\N	\N	EFO	4	EFO	hematological measurement	neutrophil count
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004833	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	3178213	\N	\N	EFO	5	EFO	measurement	neutrophil count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004833	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	4388112	\N	\N	EFO	6	EFO	information entity	neutrophil count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004833	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	5408764	\N	\N	EFO	7	EFO	experimental factor	neutrophil count
EFO:0004838	\N	\N	"Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation." []	EFO:0004838	"Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation." []	66674	\N	\N	EFO	0	EFO	calcium measurement	calcium measurement
EFO:0001444	EFO:0004838	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004838	"Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation." []	208003	\N	\N	EFO	1	EFO	measurement	calcium measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004838	"Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation." []	561158	\N	\N	EFO	2	EFO	information entity	calcium measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004838	"Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation." []	1142921	\N	\N	EFO	3	EFO	experimental factor	calcium measurement
EFO:0004839	\N	\N	"Is the ratio of CD4 vs. CD8 lymphocytes, abormal ratios may reflect an infection such as HIV and the measurement may be used as an indicator of disease progression." []	EFO:0004839	"Is the ratio of CD4 vs. CD8 lymphocytes, abormal ratios may reflect an infection such as HIV and the measurement may be used as an indicator of disease progression." []	66675	\N	\N	EFO	0	EFO	CD4:CD8 lymphocyte ratio	CD4:CD8 lymphocyte ratio
EFO:0004872	EFO:0004839	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004839	"Is the ratio of CD4 vs. CD8 lymphocytes, abormal ratios may reflect an infection such as HIV and the measurement may be used as an indicator of disease progression." []	208004	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	CD4:CD8 lymphocyte ratio
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004839	"Is the ratio of CD4 vs. CD8 lymphocytes, abormal ratios may reflect an infection such as HIV and the measurement may be used as an indicator of disease progression." []	561159	\N	\N	EFO	2	EFO	measurement	CD4:CD8 lymphocyte ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004839	"Is the ratio of CD4 vs. CD8 lymphocytes, abormal ratios may reflect an infection such as HIV and the measurement may be used as an indicator of disease progression." []	1142922	\N	\N	EFO	3	EFO	information entity	CD4:CD8 lymphocyte ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004839	"Is the ratio of CD4 vs. CD8 lymphocytes, abormal ratios may reflect an infection such as HIV and the measurement may be used as an indicator of disease progression." []	2025667	\N	\N	EFO	4	EFO	experimental factor	CD4:CD8 lymphocyte ratio
EFO:0004840	\N	\N	"Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease and other neurological conditions" []	EFO:0004840	"Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease and other neurological conditions" []	66676	\N	\N	EFO	0	EFO	cortical thickness	cortical thickness
EFO:0004464	EFO:0004840	\N	"" []	EFO:0004840	"Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease and other neurological conditions" []	208005	\N	\N	EFO	1	EFO	brain measurement	cortical thickness
EFO:0006514	EFO:0004840	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0004840	"Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease and other neurological conditions" []	208006	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	cortical thickness
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004840	"Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease and other neurological conditions" []	561160	\N	\N	EFO	2	EFO	measurement	cortical thickness
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004840	"Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease and other neurological conditions" []	561161	\N	\N	EFO	2	EFO	measurement	cortical thickness
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004840	"Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease and other neurological conditions" []	1142923	\N	\N	EFO	3	EFO	information entity	cortical thickness
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004840	"Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease and other neurological conditions" []	2025668	\N	\N	EFO	4	EFO	experimental factor	cortical thickness
EFO:0004841	\N	\N	"Is the ratio of 2D:4D used a a marker for prenatal androgen exposure." []	EFO:0004841	"Is the ratio of 2D:4D used a a marker for prenatal androgen exposure." []	66677	\N	\N	EFO	0	EFO	digit length ratio	digit length ratio
EFO:0007861	EFO:0004841	\N	"quantification of the ratio between two body measures, eg waist-hip ratio" []	EFO:0004841	"Is the ratio of 2D:4D used a a marker for prenatal androgen exposure." []	208007	\N	\N	EFO	1	EFO	body ratio measurement	digit length ratio
EFO:0004324	EFO:0007861	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004841	"Is the ratio of 2D:4D used a a marker for prenatal androgen exposure." []	561162	\N	\N	EFO	2	EFO	body weights and measures	digit length ratio
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004841	"Is the ratio of 2D:4D used a a marker for prenatal androgen exposure." []	1142924	\N	\N	EFO	3	EFO	anthropometric measurement	digit length ratio
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004841	"Is the ratio of 2D:4D used a a marker for prenatal androgen exposure." []	2025669	\N	\N	EFO	4	EFO	measurement	digit length ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004841	"Is the ratio of 2D:4D used a a marker for prenatal androgen exposure." []	3178214	\N	\N	EFO	5	EFO	information entity	digit length ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004841	"Is the ratio of 2D:4D used a a marker for prenatal androgen exposure." []	4388113	\N	\N	EFO	6	EFO	experimental factor	digit length ratio
EFO:0004842	\N	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0004842	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	66678	\N	\N	EFO	0	EFO	eosinophil count	eosinophil count
EFO:0007987	EFO:0004842	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0004842	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	208008	\N	\N	EFO	1	EFO	granulocyte count	eosinophil count
EFO:0007988	EFO:0007987	\N	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0004842	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	561163	\N	\N	EFO	2	EFO	myeloid white cell count	eosinophil count
EFO:0004308	EFO:0007988	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0004842	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	1142925	\N	\N	EFO	3	EFO	leukocyte count	eosinophil count
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004842	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	2025670	\N	\N	EFO	4	EFO	hematological measurement	eosinophil count
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004842	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	3178215	\N	\N	EFO	5	EFO	measurement	eosinophil count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004842	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	4388114	\N	\N	EFO	6	EFO	information entity	eosinophil count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004842	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	5408765	\N	\N	EFO	7	EFO	experimental factor	eosinophil count
EFO:0004843	\N	\N	"Is a quantification of any or all of the B vitamins" []	EFO:0004843	"Is a quantification of any or all of the B vitamins" []	66679	\N	\N	EFO	0	EFO	vitamin B measurement	vitamin B measurement
EFO:0004729	EFO:0004843	\N	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	EFO:0004843	"Is a quantification of any or all of the B vitamins" []	208009	\N	\N	EFO	1	EFO	vitamin measurement	vitamin B measurement
EFO:0001444	EFO:0004729	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004843	"Is a quantification of any or all of the B vitamins" []	561164	\N	\N	EFO	2	EFO	measurement	vitamin B measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004843	"Is a quantification of any or all of the B vitamins" []	1142926	\N	\N	EFO	3	EFO	information entity	vitamin B measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004843	"Is a quantification of any or all of the B vitamins" []	2025671	\N	\N	EFO	4	EFO	experimental factor	vitamin B measurement
EFO:0004844	\N	\N	"Is a quantification of the size of a human hip bone." []	EFO:0004844	"Is a quantification of the size of a human hip bone." []	66680	\N	\N	EFO	0	EFO	hip bone size	hip bone size
EFO:0004324	EFO:0004844	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004844	"Is a quantification of the size of a human hip bone." []	208010	\N	\N	EFO	1	EFO	body weights and measures	hip bone size
EFO:0004512	EFO:0004844	\N	"" []	EFO:0004844	"Is a quantification of the size of a human hip bone." []	208011	\N	\N	EFO	1	EFO	bone measurement	hip bone size
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004844	"Is a quantification of the size of a human hip bone." []	561165	\N	\N	EFO	2	EFO	anthropometric measurement	hip bone size
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004844	"Is a quantification of the size of a human hip bone." []	561166	\N	\N	EFO	2	EFO	measurement	hip bone size
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004844	"Is a quantification of the size of a human hip bone." []	1142927	\N	\N	EFO	3	EFO	measurement	hip bone size
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004844	"Is a quantification of the size of a human hip bone." []	2025672	\N	\N	EFO	4	EFO	information entity	hip bone size
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004844	"Is a quantification of the size of a human hip bone." []	2999606	\N	\N	EFO	5	EFO	experimental factor	hip bone size
EFO:0004845	\N	\N	"Is a quantification of magnesium in serum." []	EFO:0004845	"Is a quantification of magnesium in serum." []	66681	\N	\N	EFO	0	EFO	magnesium measurement	magnesium measurement
EFO:0001444	EFO:0004845	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004845	"Is a quantification of magnesium in serum." []	208012	\N	\N	EFO	1	EFO	measurement	magnesium measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004845	"Is a quantification of magnesium in serum." []	561167	\N	\N	EFO	2	EFO	information entity	magnesium measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004845	"Is a quantification of magnesium in serum." []	1142929	\N	\N	EFO	3	EFO	experimental factor	magnesium measurement
EFO:0004846	\N	\N	"Is the quantification of circulating serotonin (5HT), a monoamine neurotransmitter" []	EFO:0004846	"Is the quantification of circulating serotonin (5HT), a monoamine neurotransmitter" []	66682	\N	\N	EFO	0	EFO	serotonin measurement	serotonin measurement
EFO:0006848	EFO:0004846	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0004846	"Is the quantification of circulating serotonin (5HT), a monoamine neurotransmitter" []	208013	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	serotonin measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004846	"Is the quantification of circulating serotonin (5HT), a monoamine neurotransmitter" []	561168	\N	\N	EFO	2	EFO	measurement	serotonin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004846	"Is the quantification of circulating serotonin (5HT), a monoamine neurotransmitter" []	1142930	\N	\N	EFO	3	EFO	information entity	serotonin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004846	"Is the quantification of circulating serotonin (5HT), a monoamine neurotransmitter" []	2025674	\N	\N	EFO	4	EFO	experimental factor	serotonin measurement
EFO:0004847	\N	\N	"The age at which some process, or disease started in a human individual." []	EFO:0004847	"The age at which some process, or disease started in a human individual." []	66683	\N	\N	EFO	0	EFO	age at onset	age at onset
EFO:0000246	EFO:0004847	\N	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	EFO:0004847	"The age at which some process, or disease started in a human individual." []	208014	\N	\N	EFO	1	EFO	age	age at onset
EFO:0000719	EFO:0000246	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004847	"The age at which some process, or disease started in a human individual." []	561169	\N	\N	EFO	2	EFO	temporal measurement	age at onset
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004847	"The age at which some process, or disease started in a human individual." []	1142931	\N	\N	EFO	3	EFO	measurement	age at onset
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004847	"The age at which some process, or disease started in a human individual." []	2025675	\N	\N	EFO	4	EFO	information entity	age at onset
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004847	"The age at which some process, or disease started in a human individual." []	3178216	\N	\N	EFO	5	EFO	experimental factor	age at onset
EFO:0004857	\N	\N	"Is the quantification of any vitamin A compound." []	EFO:0004857	"Is the quantification of any vitamin A compound." []	66684	\N	\N	EFO	0	EFO	vitamin A measurement	vitamin A measurement
EFO:0004729	EFO:0004857	\N	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	EFO:0004857	"Is the quantification of any vitamin A compound." []	208015	\N	\N	EFO	1	EFO	vitamin measurement	vitamin A measurement
EFO:0001444	EFO:0004729	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004857	"Is the quantification of any vitamin A compound." []	561170	\N	\N	EFO	2	EFO	measurement	vitamin A measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004857	"Is the quantification of any vitamin A compound." []	1142932	\N	\N	EFO	3	EFO	information entity	vitamin A measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004857	"Is the quantification of any vitamin A compound." []	2025676	\N	\N	EFO	4	EFO	experimental factor	vitamin A measurement
EFO:0004859	\N	\N	"Calcification of the abdominal aortic artery, used as an indicator of sub clinical athrosclerosis" []	EFO:0004859	"Calcification of the abdominal aortic artery, used as an indicator of sub clinical athrosclerosis" []	66685	\N	\N	EFO	0	EFO	abdominal aortic artery calcification	abdominal aortic artery calcification
HP:0001626	\N	\N	"Any abnormality of the cardiovascular system." [HPO:probinson]	EFO:0004859	"Calcification of the abdominal aortic artery, used as an indicator of sub clinical athrosclerosis" []	194682	\N	\N	EFO	0	EFO	Abnormality of the cardiovascular system	abdominal aortic artery calcification
EFO:0004860	\N	\N	"Is a quantification of the common carotid intimal medial thickness." []	EFO:0004860	"Is a quantification of the common carotid intimal medial thickness." []	66686	\N	\N	EFO	0	EFO	common carotid intimal medial thickness	common carotid intimal medial thickness
EFO:0005278	EFO:0004860	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004860	"Is a quantification of the common carotid intimal medial thickness." []	208016	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	common carotid intimal medial thickness
EFO:0007117	EFO:0004860	\N	"quantification of the thickness of tunica intima and tunica media, the innermost two layers of the wall of the carotid artery, usually by carotid ultrasound" []	EFO:0004860	"Is a quantification of the common carotid intimal medial thickness." []	208017	\N	\N	EFO	1	EFO	carotid artery intima media thickness	common carotid intimal medial thickness
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004860	"Is a quantification of the common carotid intimal medial thickness." []	561171	\N	\N	EFO	2	EFO	cardiovascular measurement	common carotid intimal medial thickness
EFO:0007717	EFO:0007117	\N	"Quantification of some aspect of the carotid artery geometry" []	EFO:0004860	"Is a quantification of the common carotid intimal medial thickness." []	561172	\N	\N	EFO	2	EFO	carotid artery geometry measurement	common carotid intimal medial thickness
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004860	"Is a quantification of the common carotid intimal medial thickness." []	1142933	\N	\N	EFO	3	EFO	measurement	common carotid intimal medial thickness
EFO:0007716	EFO:0007717	\N	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	EFO:0004860	"Is a quantification of the common carotid intimal medial thickness." []	1142934	\N	\N	EFO	3	EFO	carotid artery measurement	common carotid intimal medial thickness
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004860	"Is a quantification of the common carotid intimal medial thickness." []	3178218	\N	\N	EFO	5	EFO	information entity	common carotid intimal medial thickness
EFO:0001444	EFO:0007716	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004860	"Is a quantification of the common carotid intimal medial thickness." []	2025678	\N	\N	EFO	4	EFO	measurement	common carotid intimal medial thickness
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004860	"Is a quantification of the common carotid intimal medial thickness." []	4132667	\N	\N	EFO	6	EFO	experimental factor	common carotid intimal medial thickness
EFO:0004861	\N	\N	"Is the quantification of serum phosphorus used in the diagnosis of hyper or hypophosphatemia, and used in the diagnosis of disease." []	EFO:0004861	"Is the quantification of serum phosphorus used in the diagnosis of hyper or hypophosphatemia, and used in the diagnosis of disease." []	66687	\N	\N	EFO	0	EFO	phosphorus measurement	phosphorus measurement
EFO:0001444	EFO:0004861	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004861	"Is the quantification of serum phosphorus used in the diagnosis of hyper or hypophosphatemia, and used in the diagnosis of disease." []	208018	\N	\N	EFO	1	EFO	measurement	phosphorus measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004861	"Is the quantification of serum phosphorus used in the diagnosis of hyper or hypophosphatemia, and used in the diagnosis of disease." []	561173	\N	\N	EFO	2	EFO	information entity	phosphorus measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004861	"Is the quantification of serum phosphorus used in the diagnosis of hyper or hypophosphatemia, and used in the diagnosis of disease." []	1142935	\N	\N	EFO	3	EFO	experimental factor	phosphorus measurement
EFO:0004862	\N	\N	"Is the quantification of phytosterol, plant derived cholesterol like compounds." []	EFO:0004862	"Is the quantification of phytosterol, plant derived cholesterol like compounds." []	66688	\N	\N	EFO	0	EFO	phytosterol measurement	phytosterol measurement
EFO:0001444	EFO:0004862	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004862	"Is the quantification of phytosterol, plant derived cholesterol like compounds." []	208019	\N	\N	EFO	1	EFO	measurement	phytosterol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004862	"Is the quantification of phytosterol, plant derived cholesterol like compounds." []	561174	\N	\N	EFO	2	EFO	information entity	phytosterol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004862	"Is the quantification of phytosterol, plant derived cholesterol like compounds." []	1142936	\N	\N	EFO	3	EFO	experimental factor	phytosterol measurement
EFO:0004863	\N	\N	"Is the genome wide recombination rate." []	EFO:0004863	"Is the genome wide recombination rate." []	66689	\N	\N	EFO	0	EFO	recombination rate	recombination rate
EFO:0005919	EFO:0004863	\N	"quantification of any recombination-related factor, such as hotspot usage, African enchrichment and recombination rate" []	EFO:0004863	"Is the genome wide recombination rate." []	208020	\N	\N	EFO	1	EFO	recombination measurement	recombination rate
EFO:0004554	EFO:0005919	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0004863	"Is the genome wide recombination rate." []	561175	\N	\N	EFO	2	EFO	genomic measurement	recombination rate
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004863	"Is the genome wide recombination rate." []	1142937	\N	\N	EFO	3	EFO	measurement	recombination rate
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004863	"Is the genome wide recombination rate." []	2025679	\N	\N	EFO	4	EFO	information entity	recombination rate
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004863	"Is the genome wide recombination rate." []	3178219	\N	\N	EFO	5	EFO	experimental factor	recombination rate
EFO:0004864	\N	\N	"Is the quantification of adipose tissue located in the renal sinus(es), correlated with chronic kidney disease and obesity." []	EFO:0004864	"Is the quantification of adipose tissue located in the renal sinus(es), correlated with chronic kidney disease and obesity." []	66690	\N	\N	EFO	0	EFO	renal sinus adipose tissue measurement	renal sinus adipose tissue measurement
EFO:0004742	EFO:0004864	\N	"Is a quantification of some renal system biomarker" []	EFO:0004864	"Is the quantification of adipose tissue located in the renal sinus(es), correlated with chronic kidney disease and obesity." []	208021	\N	\N	EFO	1	EFO	renal system measurement	renal sinus adipose tissue measurement
EFO:0004764	EFO:0004864	\N	"Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." []	EFO:0004864	"Is the quantification of adipose tissue located in the renal sinus(es), correlated with chronic kidney disease and obesity." []	208022	\N	\N	EFO	1	EFO	adipose tissue measurement	renal sinus adipose tissue measurement
EFO:0001444	EFO:0004742	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004864	"Is the quantification of adipose tissue located in the renal sinus(es), correlated with chronic kidney disease and obesity." []	561176	\N	\N	EFO	2	EFO	measurement	renal sinus adipose tissue measurement
EFO:0004302	EFO:0004764	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004864	"Is the quantification of adipose tissue located in the renal sinus(es), correlated with chronic kidney disease and obesity." []	561177	\N	\N	EFO	2	EFO	anthropometric measurement	renal sinus adipose tissue measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004864	"Is the quantification of adipose tissue located in the renal sinus(es), correlated with chronic kidney disease and obesity." []	2025681	\N	\N	EFO	4	EFO	information entity	renal sinus adipose tissue measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004864	"Is the quantification of adipose tissue located in the renal sinus(es), correlated with chronic kidney disease and obesity." []	1142939	\N	\N	EFO	3	EFO	measurement	renal sinus adipose tissue measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004864	"Is the quantification of adipose tissue located in the renal sinus(es), correlated with chronic kidney disease and obesity." []	2999607	\N	\N	EFO	5	EFO	experimental factor	renal sinus adipose tissue measurement
EFO:0004865	\N	\N	"Is a quantification of the volume of the thyroid." []	EFO:0004865	"Is a quantification of the volume of the thyroid." []	66691	\N	\N	EFO	0	EFO	thyroid volume	thyroid volume
EFO:0001444	EFO:0004865	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004865	"Is a quantification of the volume of the thyroid." []	208023	\N	\N	EFO	1	EFO	measurement	thyroid volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004865	"Is a quantification of the volume of the thyroid." []	561178	\N	\N	EFO	2	EFO	information entity	thyroid volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004865	"Is a quantification of the volume of the thyroid." []	1142940	\N	\N	EFO	3	EFO	experimental factor	thyroid volume
EFO:0004866	\N	\N	"Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein.  e.g. anti-islet autoantibodies." []	EFO:0004866	"Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein.  e.g. anti-islet autoantibodies." []	66692	\N	\N	EFO	0	EFO	autoantibody measurement	autoantibody measurement
EFO:0004556	EFO:0004866	\N	"Is the quantification of some antibody" []	EFO:0004866	"Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein.  e.g. anti-islet autoantibodies." []	208024	\N	\N	EFO	1	EFO	antibody measurement	autoantibody measurement
EFO:0006846	EFO:0004866	\N	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	EFO:0004866	"Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein.  e.g. anti-islet autoantibodies." []	208025	\N	\N	EFO	1	EFO	autoimmune disease biomarker	autoantibody measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004866	"Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein.  e.g. anti-islet autoantibodies." []	561179	\N	\N	EFO	2	EFO	measurement	autoantibody measurement
EFO:0001444	EFO:0006846	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004866	"Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein.  e.g. anti-islet autoantibodies." []	561180	\N	\N	EFO	2	EFO	measurement	autoantibody measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004866	"Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein.  e.g. anti-islet autoantibodies." []	1142941	\N	\N	EFO	3	EFO	information entity	autoantibody measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004866	"Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein.  e.g. anti-islet autoantibodies." []	2025682	\N	\N	EFO	4	EFO	experimental factor	autoantibody measurement
EFO:0004867	\N	\N	"Is a quantification of vitamin E." []	EFO:0004867	"Is a quantification of vitamin E." []	66693	\N	\N	EFO	0	EFO	vitamin E measurement	vitamin E measurement
EFO:0004729	EFO:0004867	\N	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	EFO:0004867	"Is a quantification of vitamin E." []	208026	\N	\N	EFO	1	EFO	vitamin measurement	vitamin E measurement
EFO:0001444	EFO:0004729	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004867	"Is a quantification of vitamin E." []	561181	\N	\N	EFO	2	EFO	measurement	vitamin E measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004867	"Is a quantification of vitamin E." []	1142942	\N	\N	EFO	3	EFO	information entity	vitamin E measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004867	"Is a quantification of vitamin E." []	2025683	\N	\N	EFO	4	EFO	experimental factor	vitamin E measurement
EFO:0004868	\N	\N	"Is a quantification of brain volume using magnetic resonance imaging." []	EFO:0004868	"Is a quantification of brain volume using magnetic resonance imaging." []	66694	\N	\N	EFO	0	EFO	volumetric brain MRI	volumetric brain MRI
EFO:0006930	EFO:0004868	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0004868	"Is a quantification of brain volume using magnetic resonance imaging." []	208027	\N	\N	EFO	1	EFO	brain volume measurement	volumetric brain MRI
EFO:0004464	EFO:0006930	\N	"" []	EFO:0004868	"Is a quantification of brain volume using magnetic resonance imaging." []	561182	\N	\N	EFO	2	EFO	brain measurement	volumetric brain MRI
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004868	"Is a quantification of brain volume using magnetic resonance imaging." []	1142943	\N	\N	EFO	3	EFO	measurement	volumetric brain MRI
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004868	"Is a quantification of brain volume using magnetic resonance imaging." []	2025684	\N	\N	EFO	4	EFO	information entity	volumetric brain MRI
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004868	"Is a quantification of brain volume using magnetic resonance imaging." []	3178220	\N	\N	EFO	5	EFO	experimental factor	volumetric brain MRI
EFO:0004869	\N	\N	"Is a quantification of the secreted glycoprotein YKL-40  (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." []	EFO:0004869	"Is a quantification of the secreted glycoprotein YKL-40  (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." []	66695	\N	\N	EFO	0	EFO	YKL40 measurement	YKL40 measurement
EFO:0004555	EFO:0004869	\N	"Is the quantification of some glycoprotein." []	EFO:0004869	"Is a quantification of the secreted glycoprotein YKL-40  (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." []	208028	\N	\N	EFO	1	EFO	glycoprotein measurement	YKL40 measurement
EFO:0004872	EFO:0004869	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004869	"Is a quantification of the secreted glycoprotein YKL-40  (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." []	208029	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	YKL40 measurement
EFO:0004873	EFO:0004869	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004869	"Is a quantification of the secreted glycoprotein YKL-40  (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." []	208030	\N	\N	EFO	1	EFO	cytokine measurement	YKL40 measurement
EFO:0004747	EFO:0004555	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004869	"Is a quantification of the secreted glycoprotein YKL-40  (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." []	561183	\N	\N	EFO	2	EFO	protein measurement	YKL40 measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004869	"Is a quantification of the secreted glycoprotein YKL-40  (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." []	561184	\N	\N	EFO	2	EFO	measurement	YKL40 measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004869	"Is a quantification of the secreted glycoprotein YKL-40  (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." []	561185	\N	\N	EFO	2	EFO	protein measurement	YKL40 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004869	"Is a quantification of the secreted glycoprotein YKL-40  (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." []	1142944	\N	\N	EFO	3	EFO	measurement	YKL40 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004869	"Is a quantification of the secreted glycoprotein YKL-40  (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." []	2025685	\N	\N	EFO	4	EFO	information entity	YKL40 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004869	"Is a quantification of the secreted glycoprotein YKL-40  (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression." []	2999608	\N	\N	EFO	5	EFO	experimental factor	YKL40 measurement
EFO:0004870	\N	\N	"Is a quantification of some sleep parameter." []	EFO:0004870	"Is a quantification of some sleep parameter." []	66696	\N	\N	EFO	0	EFO	sleep measurement	sleep measurement
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004870	"Is a quantification of some sleep parameter." []	208031	\N	\N	EFO	1	EFO	measurement	sleep measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004870	"Is a quantification of some sleep parameter." []	561186	\N	\N	EFO	2	EFO	information entity	sleep measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004870	"Is a quantification of some sleep parameter." []	1142946	\N	\N	EFO	3	EFO	experimental factor	sleep measurement
EFO:0004872	\N	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0004872	"Is a quantification of any molecule involved in the process of inflammatory response." []	66697	\N	\N	EFO	0	EFO	inflammatory biomarker measurement	inflammatory biomarker measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004872	"Is a quantification of any molecule involved in the process of inflammatory response." []	208032	\N	\N	EFO	1	EFO	measurement	inflammatory biomarker measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004872	"Is a quantification of any molecule involved in the process of inflammatory response." []	561187	\N	\N	EFO	2	EFO	information entity	inflammatory biomarker measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004872	"Is a quantification of any molecule involved in the process of inflammatory response." []	1142947	\N	\N	EFO	3	EFO	experimental factor	inflammatory biomarker measurement
EFO:0004873	\N	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0004873	"Is a quantification of some cytokine, secreted cell signalling molecules." []	66698	\N	\N	EFO	0	EFO	cytokine measurement	cytokine measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004873	"Is a quantification of some cytokine, secreted cell signalling molecules." []	208033	\N	\N	EFO	1	EFO	protein measurement	cytokine measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004873	"Is a quantification of some cytokine, secreted cell signalling molecules." []	561188	\N	\N	EFO	2	EFO	measurement	cytokine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004873	"Is a quantification of some cytokine, secreted cell signalling molecules." []	1142948	\N	\N	EFO	3	EFO	information entity	cytokine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004873	"Is a quantification of some cytokine, secreted cell signalling molecules." []	2025687	\N	\N	EFO	4	EFO	experimental factor	cytokine measurement
EFO:0004874	\N	\N	"Is a quantification of a subject's activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. Memory performance is typically assessed by some clinical memory test and is used in the diagnosis of diseases such as Alzheimer's disease." []	EFO:0004874	"Is a quantification of a subject's activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. Memory performance is typically assessed by some clinical memory test and is used in the diagnosis of diseases such as Alzheimer's disease." []	66699	\N	\N	EFO	0	EFO	memory performance	memory performance
EFO:0006848	EFO:0004874	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0004874	"Is a quantification of a subject's activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. Memory performance is typically assessed by some clinical memory test and is used in the diagnosis of diseases such as Alzheimer's disease." []	208034	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	memory performance
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004874	"Is a quantification of a subject's activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. Memory performance is typically assessed by some clinical memory test and is used in the diagnosis of diseases such as Alzheimer's disease." []	561189	\N	\N	EFO	2	EFO	measurement	memory performance
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004874	"Is a quantification of a subject's activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. Memory performance is typically assessed by some clinical memory test and is used in the diagnosis of diseases such as Alzheimer's disease." []	1142949	\N	\N	EFO	3	EFO	information entity	memory performance
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004874	"Is a quantification of a subject's activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. Memory performance is typically assessed by some clinical memory test and is used in the diagnosis of diseases such as Alzheimer's disease." []	2025688	\N	\N	EFO	4	EFO	experimental factor	memory performance
EFO:0004875	\N	\N	"Is the mental process necessary to acquire knowledge or skill in the measurement, properties, and relationships of quantities and sets, using numbers and symbols (mathematics)" []	EFO:0004875	"Is the mental process necessary to acquire knowledge or skill in the measurement, properties, and relationships of quantities and sets, using numbers and symbols (mathematics)" []	66700	\N	\N	EFO	0	EFO	mathematical ability	mathematical ability
EFO:0003925	EFO:0004875	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0004875	"Is the mental process necessary to acquire knowledge or skill in the measurement, properties, and relationships of quantities and sets, using numbers and symbols (mathematics)" []	208035	\N	\N	EFO	1	EFO	cognition	mathematical ability
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0004875	"Is the mental process necessary to acquire knowledge or skill in the measurement, properties, and relationships of quantities and sets, using numbers and symbols (mathematics)" []	561190	\N	\N	EFO	2	EFO	mental process	mathematical ability
EFO:0004880	\N	\N	"Is the quantification of arsenic urine." []	EFO:0004880	"Is the quantification of arsenic urine." []	66701	\N	\N	EFO	0	EFO	urinary arsenic measurement	urinary arsenic measurement
EFO:0001444	EFO:0004880	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004880	"Is the quantification of arsenic urine." []	208036	\N	\N	EFO	1	EFO	measurement	urinary arsenic measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004880	"Is the quantification of arsenic urine." []	561191	\N	\N	EFO	2	EFO	information entity	urinary arsenic measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004880	"Is the quantification of arsenic urine." []	1142950	\N	\N	EFO	3	EFO	experimental factor	urinary arsenic measurement
EFO:0004881	\N	\N	"Is an allergy to asaparaginase. Asparaginase is an enzyme isolated from the bacterium Escherichia coli or the bacterium Erwinia carotovora with antileukemic activity" []	EFO:0004881	"Is an allergy to asaparaginase. Asparaginase is an enzyme isolated from the bacterium Escherichia coli or the bacterium Erwinia carotovora with antileukemic activity" []	66702	\N	\N	EFO	0	EFO	asparaginase hypersensitivity	asparaginase hypersensitivity
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0004881	"Is an allergy to asaparaginase. Asparaginase is an enzyme isolated from the bacterium Escherichia coli or the bacterium Erwinia carotovora with antileukemic activity" []	194683	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	asparaginase hypersensitivity
EFO:0004884	\N	\N	"Is a quantification of some aspect of breast size" []	EFO:0004884	"Is a quantification of some aspect of breast size" []	66703	\N	\N	EFO	0	EFO	breast size	breast size
EFO:0004324	EFO:0004884	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0004884	"Is a quantification of some aspect of breast size" []	208037	\N	\N	EFO	1	EFO	body weights and measures	breast size
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004884	"Is a quantification of some aspect of breast size" []	561192	\N	\N	EFO	2	EFO	anthropometric measurement	breast size
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004884	"Is a quantification of some aspect of breast size" []	1142951	\N	\N	EFO	3	EFO	measurement	breast size
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004884	"Is a quantification of some aspect of breast size" []	2025689	\N	\N	EFO	4	EFO	information entity	breast size
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004884	"Is a quantification of some aspect of breast size" []	3178221	\N	\N	EFO	5	EFO	experimental factor	breast size
EFO:0004885	\N	\N	"Early repolarization pattern (ERP) is a common ECG variant, characterized by J point elevation manifested either as terminal QRS slurring (the transition from the QRS segment to the ST segment) or notching (a positive deflection inscribed on terminal QRS complex) associated with concave upward ST-segment elevation and prominent T waves in at least two contiguous leads." []	EFO:0004885	"Early repolarization pattern (ERP) is a common ECG variant, characterized by J point elevation manifested either as terminal QRS slurring (the transition from the QRS segment to the ST segment) or notching (a positive deflection inscribed on terminal QRS complex) associated with concave upward ST-segment elevation and prominent T waves in at least two contiguous leads." []	66704	\N	\N	EFO	0	EFO	early cardiac repolarization measurement	early cardiac repolarization measurement
EFO:0004298	EFO:0004885	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004885	"Early repolarization pattern (ERP) is a common ECG variant, characterized by J point elevation manifested either as terminal QRS slurring (the transition from the QRS segment to the ST segment) or notching (a positive deflection inscribed on terminal QRS complex) associated with concave upward ST-segment elevation and prominent T waves in at least two contiguous leads." []	208038	\N	\N	EFO	1	EFO	cardiovascular measurement	early cardiac repolarization measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004885	"Early repolarization pattern (ERP) is a common ECG variant, characterized by J point elevation manifested either as terminal QRS slurring (the transition from the QRS segment to the ST segment) or notching (a positive deflection inscribed on terminal QRS complex) associated with concave upward ST-segment elevation and prominent T waves in at least two contiguous leads." []	561193	\N	\N	EFO	2	EFO	measurement	early cardiac repolarization measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004885	"Early repolarization pattern (ERP) is a common ECG variant, characterized by J point elevation manifested either as terminal QRS slurring (the transition from the QRS segment to the ST segment) or notching (a positive deflection inscribed on terminal QRS complex) associated with concave upward ST-segment elevation and prominent T waves in at least two contiguous leads." []	1142952	\N	\N	EFO	3	EFO	information entity	early cardiac repolarization measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004885	"Early repolarization pattern (ERP) is a common ECG variant, characterized by J point elevation manifested either as terminal QRS slurring (the transition from the QRS segment to the ST segment) or notching (a positive deflection inscribed on terminal QRS complex) associated with concave upward ST-segment elevation and prominent T waves in at least two contiguous leads." []	2025690	\N	\N	EFO	4	EFO	experimental factor	early cardiac repolarization measurement
EFO:0004886	\N	\N	"Is a quantification of intracranial volume." []	EFO:0004886	"Is a quantification of intracranial volume." []	66705	\N	\N	EFO	0	EFO	intracranial volume measurement	intracranial volume measurement
EFO:0006930	EFO:0004886	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0004886	"Is a quantification of intracranial volume." []	208039	\N	\N	EFO	1	EFO	brain volume measurement	intracranial volume measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0004886	"Is a quantification of intracranial volume." []	561194	\N	\N	EFO	2	EFO	brain measurement	intracranial volume measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004886	"Is a quantification of intracranial volume." []	1142953	\N	\N	EFO	3	EFO	measurement	intracranial volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004886	"Is a quantification of intracranial volume." []	2025691	\N	\N	EFO	4	EFO	information entity	intracranial volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004886	"Is a quantification of intracranial volume." []	3178222	\N	\N	EFO	5	EFO	experimental factor	intracranial volume measurement
EFO:0004887	\N	\N	"Is the quantification of is the maximum capacity of an individual's body to transport and use oxygen during incremental exercise, and is used as an indicator of physical fitness" []	EFO:0004887	"Is the quantification of is the maximum capacity of an individual's body to transport and use oxygen during incremental exercise, and is used as an indicator of physical fitness" []	66706	\N	\N	EFO	0	EFO	maximal oxygen uptake measurement	maximal oxygen uptake measurement
EFO:0003892	EFO:0004887	\N	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	EFO:0004887	"Is the quantification of is the maximum capacity of an individual's body to transport and use oxygen during incremental exercise, and is used as an indicator of physical fitness" []	208040	\N	\N	EFO	1	EFO	pulmonary function measurement	maximal oxygen uptake measurement
EFO:0001444	EFO:0003892	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004887	"Is the quantification of is the maximum capacity of an individual's body to transport and use oxygen during incremental exercise, and is used as an indicator of physical fitness" []	561195	\N	\N	EFO	2	EFO	measurement	maximal oxygen uptake measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004887	"Is the quantification of is the maximum capacity of an individual's body to transport and use oxygen during incremental exercise, and is used as an indicator of physical fitness" []	1142954	\N	\N	EFO	3	EFO	information entity	maximal oxygen uptake measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004887	"Is the quantification of is the maximum capacity of an individual's body to transport and use oxygen during incremental exercise, and is used as an indicator of physical fitness" []	2025692	\N	\N	EFO	4	EFO	experimental factor	maximal oxygen uptake measurement
EFO:0004888	\N	\N	"Emesis and queasiness occurring after anesthesia." []	EFO:0004888	"Emesis and queasiness occurring after anesthesia." []	66707	\N	\N	EFO	0	EFO	post operative nausea and vomiting	post operative nausea and vomiting
HP:0002017	\N	\N	"" []	EFO:0004888	"Emesis and queasiness occurring after anesthesia." []	194684	\N	\N	EFO	0	EFO	Nausea and vomiting	post operative nausea and vomiting
EFO:0005323	EFO:0004888	\N	"clinical manifestation that occurs as a result of a surgical intervention" []	EFO:0004888	"Emesis and queasiness occurring after anesthesia." []	208041	\N	\N	EFO	1	EFO	post-operative sign or symptom	post operative nausea and vomiting
EFO:0003765	EFO:0005323	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0004888	"Emesis and queasiness occurring after anesthesia." []	561196	\N	\N	EFO	2	EFO	sign or symptom	post operative nausea and vomiting
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0004888	"Emesis and queasiness occurring after anesthesia." []	1142955	\N	\N	EFO	3	EFO	phenotype	post operative nausea and vomiting
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0004888	"Emesis and queasiness occurring after anesthesia." []	2025693	\N	\N	EFO	4	EFO	quality	post operative nausea and vomiting
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004888	"Emesis and queasiness occurring after anesthesia." []	3178223	\N	\N	EFO	5	EFO	material property	post operative nausea and vomiting
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004888	"Emesis and queasiness occurring after anesthesia." []	4388115	\N	\N	EFO	6	EFO	experimental factor	post operative nausea and vomiting
EFO:0004889	\N	\N	"Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." []	EFO:0004889	"Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." []	66708	\N	\N	EFO	0	EFO	postoperative ventricular dysfunction	postoperative ventricular dysfunction
EFO:0000378	EFO:0004889	\N	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	EFO:0004889	"Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." []	208042	\N	\N	EFO	1	EFO	coronary artery disease	postoperative ventricular dysfunction
EFO:0001645	EFO:0000378	\N	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	EFO:0004889	"Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." []	561197	\N	\N	EFO	2	EFO	coronary heart disease	postoperative ventricular dysfunction
EFO:0003777	EFO:0001645	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0004889	"Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." []	1142956	\N	\N	EFO	3	EFO	heart disease	postoperative ventricular dysfunction
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0004889	"Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." []	2025694	\N	\N	EFO	4	EFO	cardiovascular disease	postoperative ventricular dysfunction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004889	"Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." []	3178224	\N	\N	EFO	5	EFO	disease	postoperative ventricular dysfunction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004889	"Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." []	4388116	\N	\N	EFO	6	EFO	disposition	postoperative ventricular dysfunction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004889	"Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." []	5408766	\N	\N	EFO	7	EFO	material property	postoperative ventricular dysfunction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004889	"Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." []	6147494	\N	\N	EFO	8	EFO	experimental factor	postoperative ventricular dysfunction
EFO:0004890	\N	\N	"" []	EFO:0004890	"" []	66709	\N	\N	EFO	0	EFO	anti-social behavior	anti-social behavior
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0004890	"" []	194685	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	anti-social behavior
EFO:0004891	\N	\N	"Consistent lack of empathy" []	EFO:0004891	"Consistent lack of empathy" []	66710	\N	\N	EFO	0	EFO	callous character	callous character
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0004891	"Consistent lack of empathy" []	194686	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	callous character
EFO:0004892	\N	\N	"Sasang constitutional medicine (SCM) is a unique form of traditional Korean medicine that divides human beings into four constitutional types (Tae-Yang: TY, Tae-Eum: TE, So-Yang: SY, and So-Eum: SE), which differ in inherited characteristics, such as external appearance, personality traits, susceptibility to particular diseases, drug responses, and equilibrium among internal organ functions." []	EFO:0004892	"Sasang constitutional medicine (SCM) is a unique form of traditional Korean medicine that divides human beings into four constitutional types (Tae-Yang: TY, Tae-Eum: TE, So-Yang: SY, and So-Eum: SE), which differ in inherited characteristics, such as external appearance, personality traits, susceptibility to particular diseases, drug responses, and equilibrium among internal organ functions." []	66711	\N	\N	EFO	0	EFO	Sasang constitutional medicine	Sasang constitutional medicine
EFO:0004542	EFO:0004892	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004892	"Sasang constitutional medicine (SCM) is a unique form of traditional Korean medicine that divides human beings into four constitutional types (Tae-Yang: TY, Tae-Eum: TE, So-Yang: SY, and So-Eum: SE), which differ in inherited characteristics, such as external appearance, personality traits, susceptibility to particular diseases, drug responses, and equilibrium among internal organ functions." []	208043	\N	\N	EFO	1	EFO	planned process	Sasang constitutional medicine
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004892	"Sasang constitutional medicine (SCM) is a unique form of traditional Korean medicine that divides human beings into four constitutional types (Tae-Yang: TY, Tae-Eum: TE, So-Yang: SY, and So-Eum: SE), which differ in inherited characteristics, such as external appearance, personality traits, susceptibility to particular diseases, drug responses, and equilibrium among internal organ functions." []	561198	\N	\N	EFO	2	EFO	process	Sasang constitutional medicine
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004892	"Sasang constitutional medicine (SCM) is a unique form of traditional Korean medicine that divides human beings into four constitutional types (Tae-Yang: TY, Tae-Eum: TE, So-Yang: SY, and So-Eum: SE), which differ in inherited characteristics, such as external appearance, personality traits, susceptibility to particular diseases, drug responses, and equilibrium among internal organ functions." []	1142957	\N	\N	EFO	3	EFO	experimental factor	Sasang constitutional medicine
EFO:0004893	\N	\N	"A syndrome comprising  testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." []	EFO:0004893	"A syndrome comprising  testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." []	66712	\N	\N	EFO	0	EFO	testicular dysgenesis syndrome	testicular dysgenesis syndrome
EFO:0000512	EFO:0004893	\N	"any diease of the reproductive system" []	EFO:0004893	"A syndrome comprising  testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." []	208044	\N	\N	EFO	1	EFO	reproductive system disease	testicular dysgenesis syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004893	"A syndrome comprising  testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." []	561199	\N	\N	EFO	2	EFO	disease	testicular dysgenesis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004893	"A syndrome comprising  testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." []	1142958	\N	\N	EFO	3	EFO	disposition	testicular dysgenesis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004893	"A syndrome comprising  testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." []	2025695	\N	\N	EFO	4	EFO	material property	testicular dysgenesis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004893	"A syndrome comprising  testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." []	3178225	\N	\N	EFO	5	EFO	experimental factor	testicular dysgenesis syndrome
EFO:0004895	\N	\N	"A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)" []	EFO:0004895	"A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)" []	66713	\N	\N	EFO	0	EFO	Tourette syndrome	Tourette syndrome
EFO:0000618	EFO:0004895	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004895	"A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)" []	208045	\N	\N	EFO	1	EFO	nervous system disease	Tourette syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004895	"A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)" []	561200	\N	\N	EFO	2	EFO	disease	Tourette syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004895	"A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)" []	1142959	\N	\N	EFO	3	EFO	disposition	Tourette syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004895	"A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)" []	2025696	\N	\N	EFO	4	EFO	material property	Tourette syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004895	"A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)" []	3178226	\N	\N	EFO	5	EFO	experimental factor	Tourette syndrome
EFO:0004900	\N	\N	"The Yoruba people are one of the largest ethnic groups in West Africa." []	EFO:0004900	"The Yoruba people are one of the largest ethnic groups in West Africa." []	66714	\N	\N	EFO	0	EFO	Yoruba	Yoruba
EFO:0004561	EFO:0004900	\N	"Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity." []	EFO:0004900	"The Yoruba people are one of the largest ethnic groups in West Africa." []	208046	\N	\N	EFO	1	EFO	African	Yoruba
EFO:0001799	EFO:0004561	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0004900	"The Yoruba people are one of the largest ethnic groups in West Africa." []	561201	\N	\N	EFO	2	EFO	ethnic group	Yoruba
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0004900	"The Yoruba people are one of the largest ethnic groups in West Africa." []	1142960	\N	\N	EFO	3	EFO	population	Yoruba
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004900	"The Yoruba people are one of the largest ethnic groups in West Africa." []	2025697	\N	\N	EFO	4	EFO	material entity	Yoruba
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004900	"The Yoruba people are one of the largest ethnic groups in West Africa." []	3178227	\N	\N	EFO	5	EFO	experimental factor	Yoruba
EFO:0004901	\N	\N	"Population of northern and western European ancestry." []	EFO:0004901	"Population of northern and western European ancestry." []	66715	\N	\N	EFO	0	EFO	Northern and Western European	Northern and Western European
EFO:0001799	EFO:0004901	\N	"An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait." []	EFO:0004901	"Population of northern and western European ancestry." []	208047	\N	\N	EFO	1	EFO	ethnic group	Northern and Western European
OBI:0000181	EFO:0001799	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0004901	"Population of northern and western European ancestry." []	561202	\N	\N	EFO	2	EFO	population	Northern and Western European
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004901	"Population of northern and western European ancestry." []	1142961	\N	\N	EFO	3	EFO	material entity	Northern and Western European
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004901	"Population of northern and western European ancestry." []	2025698	\N	\N	EFO	4	EFO	experimental factor	Northern and Western European
EFO:0004902	\N	\N	"" []	EFO:0004902	"" []	66716	\N	\N	EFO	0	EFO	European HapMap cell line	European HapMap cell line
EFO:0002933	EFO:0004902	\N	"Cell lines used in experiments under the HapMap Project" []	EFO:0004902	"" []	208048	\N	\N	EFO	1	EFO	HapMap cell line	European HapMap cell line
EFO:0000322	EFO:0002933	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0004902	"" []	561203	\N	\N	EFO	2	EFO	cell line	European HapMap cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004902	"" []	1142962	\N	\N	EFO	3	EFO	material entity	European HapMap cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004902	"" []	2025699	\N	\N	EFO	4	EFO	experimental factor	European HapMap cell line
EFO:0004903	\N	\N	"The probe which is used in an assay such as an array for detecting sequence or gene expression levels." []	EFO:0004903	"The probe which is used in an assay such as an array for detecting sequence or gene expression levels." []	66717	\N	\N	EFO	0	EFO	probe design element	probe design element
EFO:0000548	EFO:0004903	\N	"An instrument is a device which provides a mechanical or electronic function." []	EFO:0004903	"The probe which is used in an assay such as an array for detecting sequence or gene expression levels." []	208049	\N	\N	EFO	1	EFO	instrument	probe design element
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004903	"The probe which is used in an assay such as an array for detecting sequence or gene expression levels." []	561204	\N	\N	EFO	2	EFO	material entity	probe design element
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004903	"The probe which is used in an assay such as an array for detecting sequence or gene expression levels." []	1142963	\N	\N	EFO	3	EFO	experimental factor	probe design element
EFO:0004905	\N	\N	"Induced pluripotent stem cells (iPS cells or iPSCs) are a type of pluripotent stem cell artificially derived from a non-pluripotent cell. Various methods exist to revert cells to pluripotency such as reprogramming mediated through a mature metaphase II oocyte as in somatic cell nuclear transfer." []	EFO:0004905	"Induced pluripotent stem cells (iPS cells or iPSCs) are a type of pluripotent stem cell artificially derived from a non-pluripotent cell. Various methods exist to revert cells to pluripotency such as reprogramming mediated through a mature metaphase II oocyte as in somatic cell nuclear transfer." []	66718	\N	\N	EFO	0	EFO	induced pluripotent stem cell	induced pluripotent stem cell
CL:0002248	\N	\N	"A pluripotent stem cell has the ability to form cells from all three germ layers (ectoderm, mesoderm, and endoderm). However, unlike totipotent stem cells, they cell can not generate all the cells of the whole organism such as placenta." []	EFO:0004905	"Induced pluripotent stem cells (iPS cells or iPSCs) are a type of pluripotent stem cell artificially derived from a non-pluripotent cell. Various methods exist to revert cells to pluripotency such as reprogramming mediated through a mature metaphase II oocyte as in somatic cell nuclear transfer." []	194687	\N	\N	EFO	0	EFO	pluripotent stem cell	induced pluripotent stem cell
EFO:0002958	EFO:0004905	\N	"experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes." []	EFO:0004905	"Induced pluripotent stem cells (iPS cells or iPSCs) are a type of pluripotent stem cell artificially derived from a non-pluripotent cell. Various methods exist to revert cells to pluripotency such as reprogramming mediated through a mature metaphase II oocyte as in somatic cell nuclear transfer." []	208050	\N	\N	EFO	1	EFO	experimental cell	induced pluripotent stem cell
EFO:0000324	EFO:0002958	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0004905	"Induced pluripotent stem cells (iPS cells or iPSCs) are a type of pluripotent stem cell artificially derived from a non-pluripotent cell. Various methods exist to revert cells to pluripotency such as reprogramming mediated through a mature metaphase II oocyte as in somatic cell nuclear transfer." []	561205	\N	\N	EFO	2	EFO	cell type	induced pluripotent stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004905	"Induced pluripotent stem cells (iPS cells or iPSCs) are a type of pluripotent stem cell artificially derived from a non-pluripotent cell. Various methods exist to revert cells to pluripotency such as reprogramming mediated through a mature metaphase II oocyte as in somatic cell nuclear transfer." []	1142964	\N	\N	EFO	3	EFO	material entity	induced pluripotent stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004905	"Induced pluripotent stem cells (iPS cells or iPSCs) are a type of pluripotent stem cell artificially derived from a non-pluripotent cell. Various methods exist to revert cells to pluripotency such as reprogramming mediated through a mature metaphase II oocyte as in somatic cell nuclear transfer." []	2025700	\N	\N	EFO	4	EFO	experimental factor	induced pluripotent stem cell
EFO:0004906	\N	\N	"A type of carcinoma which has spread to lymph nodes from some other primary cancer site." []	EFO:0004906	"A type of carcinoma which has spread to lymph nodes from some other primary cancer site." []	66719	\N	\N	EFO	0	EFO	metastasis to lymph node	metastasis to lymph node
EFO:0000313	EFO:0004906	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0004906	"A type of carcinoma which has spread to lymph nodes from some other primary cancer site." []	208051	\N	\N	EFO	1	EFO	carcinoma	metastasis to lymph node
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0004906	"A type of carcinoma which has spread to lymph nodes from some other primary cancer site." []	561206	\N	\N	EFO	2	EFO	cancer	metastasis to lymph node
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0004906	"A type of carcinoma which has spread to lymph nodes from some other primary cancer site." []	561207	\N	\N	EFO	2	EFO	epithelial neoplasm	metastasis to lymph node
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004906	"A type of carcinoma which has spread to lymph nodes from some other primary cancer site." []	1142965	\N	\N	EFO	3	EFO	neoplasm	metastasis to lymph node
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004906	"A type of carcinoma which has spread to lymph nodes from some other primary cancer site." []	1142966	\N	\N	EFO	3	EFO	neoplasm	metastasis to lymph node
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004906	"A type of carcinoma which has spread to lymph nodes from some other primary cancer site." []	2025701	\N	\N	EFO	4	EFO	disease	metastasis to lymph node
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004906	"A type of carcinoma which has spread to lymph nodes from some other primary cancer site." []	3178228	\N	\N	EFO	5	EFO	disposition	metastasis to lymph node
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004906	"A type of carcinoma which has spread to lymph nodes from some other primary cancer site." []	4388117	\N	\N	EFO	6	EFO	material property	metastasis to lymph node
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004906	"A type of carcinoma which has spread to lymph nodes from some other primary cancer site." []	5408767	\N	\N	EFO	7	EFO	experimental factor	metastasis to lymph node
EFO:0004908	\N	\N	"is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone.Testosterone measurement is used in the diagnosis of \\nprecocious or delayed puberty, infertility (in men and women), ovarian tumours, adrenal tumours and pituitary disorders.\\n" []	EFO:0004908	"is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone.Testosterone measurement is used in the diagnosis of \\nprecocious or delayed puberty, infertility (in men and women), ovarian tumours, adrenal tumours and pituitary disorders.\\n" []	66720	\N	\N	EFO	0	EFO	testosterone measurement	testosterone measurement
EFO:0004730	EFO:0004908	\N	"" []	EFO:0004908	"is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone.Testosterone measurement is used in the diagnosis of \\nprecocious or delayed puberty, infertility (in men and women), ovarian tumours, adrenal tumours and pituitary disorders.\\n" []	208052	\N	\N	EFO	1	EFO	hormone measurement	testosterone measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004908	"is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone.Testosterone measurement is used in the diagnosis of \\nprecocious or delayed puberty, infertility (in men and women), ovarian tumours, adrenal tumours and pituitary disorders.\\n" []	561208	\N	\N	EFO	2	EFO	measurement	testosterone measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004908	"is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone.Testosterone measurement is used in the diagnosis of \\nprecocious or delayed puberty, infertility (in men and women), ovarian tumours, adrenal tumours and pituitary disorders.\\n" []	1142967	\N	\N	EFO	3	EFO	information entity	testosterone measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004908	"is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone.Testosterone measurement is used in the diagnosis of \\nprecocious or delayed puberty, infertility (in men and women), ovarian tumours, adrenal tumours and pituitary disorders.\\n" []	2025702	\N	\N	EFO	4	EFO	experimental factor	testosterone measurement
EFO:0004909	\N	\N	"is a quantification of dihydrotestosterone (DHT), typically in serum. Dihydrotestosterone is a steroid hormone, a small percentage of testosterone is reduced to DHT which has a greater affinity for  androgen receptors." []	EFO:0004909	"is a quantification of dihydrotestosterone (DHT), typically in serum. Dihydrotestosterone is a steroid hormone, a small percentage of testosterone is reduced to DHT which has a greater affinity for  androgen receptors." []	66721	\N	\N	EFO	0	EFO	dihydrotestosterone measurement	dihydrotestosterone measurement
EFO:0004730	EFO:0004909	\N	"" []	EFO:0004909	"is a quantification of dihydrotestosterone (DHT), typically in serum. Dihydrotestosterone is a steroid hormone, a small percentage of testosterone is reduced to DHT which has a greater affinity for  androgen receptors." []	208053	\N	\N	EFO	1	EFO	hormone measurement	dihydrotestosterone measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004909	"is a quantification of dihydrotestosterone (DHT), typically in serum. Dihydrotestosterone is a steroid hormone, a small percentage of testosterone is reduced to DHT which has a greater affinity for  androgen receptors." []	561209	\N	\N	EFO	2	EFO	measurement	dihydrotestosterone measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004909	"is a quantification of dihydrotestosterone (DHT), typically in serum. Dihydrotestosterone is a steroid hormone, a small percentage of testosterone is reduced to DHT which has a greater affinity for  androgen receptors." []	1142968	\N	\N	EFO	3	EFO	information entity	dihydrotestosterone measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004909	"is a quantification of dihydrotestosterone (DHT), typically in serum. Dihydrotestosterone is a steroid hormone, a small percentage of testosterone is reduced to DHT which has a greater affinity for  androgen receptors." []	2025703	\N	\N	EFO	4	EFO	experimental factor	dihydrotestosterone measurement
EFO:0004910	\N	\N	"is a quantification of cytochrome P450 3A4 activity. CP4503A4 is a heme-thiolate monooxygenases induced in response to drugs, pesticides and carcinogens (Uniprot definition)." []	EFO:0004910	"is a quantification of cytochrome P450 3A4 activity. CP4503A4 is a heme-thiolate monooxygenases induced in response to drugs, pesticides and carcinogens (Uniprot definition)." []	66722	\N	\N	EFO	0	EFO	CYP3A4 activity	CYP3A4 activity
EFO:0004582	EFO:0004910	\N	"A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function." []	EFO:0004910	"is a quantification of cytochrome P450 3A4 activity. CP4503A4 is a heme-thiolate monooxygenases induced in response to drugs, pesticides and carcinogens (Uniprot definition)." []	208054	\N	\N	EFO	1	EFO	liver enzyme measurement	CYP3A4 activity
EFO:0001444	EFO:0004582	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004910	"is a quantification of cytochrome P450 3A4 activity. CP4503A4 is a heme-thiolate monooxygenases induced in response to drugs, pesticides and carcinogens (Uniprot definition)." []	561210	\N	\N	EFO	2	EFO	measurement	CYP3A4 activity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004910	"is a quantification of cytochrome P450 3A4 activity. CP4503A4 is a heme-thiolate monooxygenases induced in response to drugs, pesticides and carcinogens (Uniprot definition)." []	1142969	\N	\N	EFO	3	EFO	information entity	CYP3A4 activity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004910	"is a quantification of cytochrome P450 3A4 activity. CP4503A4 is a heme-thiolate monooxygenases induced in response to drugs, pesticides and carcinogens (Uniprot definition)." []	2025704	\N	\N	EFO	4	EFO	experimental factor	CYP3A4 activity
EFO:0004911	\N	\N	"Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)" []	EFO:0004911	"Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)" []	66723	\N	\N	EFO	0	EFO	familial hypercholesterolemia	familial hypercholesterolemia
EFO:0000508	EFO:0004911	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0004911	"Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)" []	208055	\N	\N	EFO	1	EFO	genetic disorder	familial hypercholesterolemia
EFO:0000589	EFO:0004911	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0004911	"Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)" []	208056	\N	\N	EFO	1	EFO	metabolic disease	familial hypercholesterolemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004911	"Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)" []	561211	\N	\N	EFO	2	EFO	disease	familial hypercholesterolemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004911	"Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)" []	561212	\N	\N	EFO	2	EFO	disease	familial hypercholesterolemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004911	"Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)" []	1142970	\N	\N	EFO	3	EFO	disposition	familial hypercholesterolemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004911	"Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)" []	2025705	\N	\N	EFO	4	EFO	material property	familial hypercholesterolemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004911	"Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM)" []	3178229	\N	\N	EFO	5	EFO	experimental factor	familial hypercholesterolemia
EFO:0004912	\N	\N	"Is a quantification of immunoglobulin A, an antibody with a role in mucosal immunity. Reduced levels of IgA may indicate a congenital deficiency and increased levels may indicate multiple myeloma." []	EFO:0004912	"Is a quantification of immunoglobulin A, an antibody with a role in mucosal immunity. Reduced levels of IgA may indicate a congenital deficiency and increased levels may indicate multiple myeloma." []	66724	\N	\N	EFO	0	EFO	serum IgA measurement	serum IgA measurement
EFO:0004556	EFO:0004912	\N	"Is the quantification of some antibody" []	EFO:0004912	"Is a quantification of immunoglobulin A, an antibody with a role in mucosal immunity. Reduced levels of IgA may indicate a congenital deficiency and increased levels may indicate multiple myeloma." []	208057	\N	\N	EFO	1	EFO	antibody measurement	serum IgA measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004912	"Is a quantification of immunoglobulin A, an antibody with a role in mucosal immunity. Reduced levels of IgA may indicate a congenital deficiency and increased levels may indicate multiple myeloma." []	561213	\N	\N	EFO	2	EFO	measurement	serum IgA measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004912	"Is a quantification of immunoglobulin A, an antibody with a role in mucosal immunity. Reduced levels of IgA may indicate a congenital deficiency and increased levels may indicate multiple myeloma." []	1142971	\N	\N	EFO	3	EFO	information entity	serum IgA measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004912	"Is a quantification of immunoglobulin A, an antibody with a role in mucosal immunity. Reduced levels of IgA may indicate a congenital deficiency and increased levels may indicate multiple myeloma." []	2025706	\N	\N	EFO	4	EFO	experimental factor	serum IgA measurement
EFO:0004913	\N	\N	"Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinsons disease, schizophrenia, and ADH." []	EFO:0004913	"Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinsons disease, schizophrenia, and ADH." []	66725	\N	\N	EFO	0	EFO	lentiform nucleus measurement	lentiform nucleus measurement
EFO:0006848	EFO:0004913	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0004913	"Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinsons disease, schizophrenia, and ADH." []	208058	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	lentiform nucleus measurement
EFO:0006930	EFO:0004913	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0004913	"Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinsons disease, schizophrenia, and ADH." []	208059	\N	\N	EFO	1	EFO	brain volume measurement	lentiform nucleus measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004913	"Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinsons disease, schizophrenia, and ADH." []	561214	\N	\N	EFO	2	EFO	measurement	lentiform nucleus measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0004913	"Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinsons disease, schizophrenia, and ADH." []	561215	\N	\N	EFO	2	EFO	brain measurement	lentiform nucleus measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004913	"Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinsons disease, schizophrenia, and ADH." []	2025708	\N	\N	EFO	4	EFO	information entity	lentiform nucleus measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004913	"Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinsons disease, schizophrenia, and ADH." []	1142973	\N	\N	EFO	3	EFO	measurement	lentiform nucleus measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004913	"Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinsons disease, schizophrenia, and ADH." []	2999609	\N	\N	EFO	5	EFO	experimental factor	lentiform nucleus measurement
EFO:0004914	\N	\N	"Is a quantification of the ability of humans to process different facial expressions, measured by MRI." []	EFO:0004914	"Is a quantification of the ability of humans to process different facial expressions, measured by MRI." []	66726	\N	\N	EFO	0	EFO	facial neural processing	facial neural processing
EFO:0001444	EFO:0004914	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004914	"Is a quantification of the ability of humans to process different facial expressions, measured by MRI." []	208060	\N	\N	EFO	1	EFO	measurement	facial neural processing
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004914	"Is a quantification of the ability of humans to process different facial expressions, measured by MRI." []	561216	\N	\N	EFO	2	EFO	information entity	facial neural processing
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004914	"Is a quantification of the ability of humans to process different facial expressions, measured by MRI." []	1142974	\N	\N	EFO	3	EFO	experimental factor	facial neural processing
EFO:0004915	\N	\N	"Is a quantification of vaspin, commonly termed Serpin A12 (visceral adipose tissue-derived serine protease inhibitor) , typically in serum an adipokine which may modulate insulin activity in white adipose tissue (Uniprot)." []	EFO:0004915	"Is a quantification of vaspin, commonly termed Serpin A12 (visceral adipose tissue-derived serine protease inhibitor) , typically in serum an adipokine which may modulate insulin activity in white adipose tissue (Uniprot)." []	66727	\N	\N	EFO	0	EFO	vaspin measurement	vaspin measurement
EFO:0001444	EFO:0004915	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004915	"Is a quantification of vaspin, commonly termed Serpin A12 (visceral adipose tissue-derived serine protease inhibitor) , typically in serum an adipokine which may modulate insulin activity in white adipose tissue (Uniprot)." []	208061	\N	\N	EFO	1	EFO	measurement	vaspin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004915	"Is a quantification of vaspin, commonly termed Serpin A12 (visceral adipose tissue-derived serine protease inhibitor) , typically in serum an adipokine which may modulate insulin activity in white adipose tissue (Uniprot)." []	561217	\N	\N	EFO	2	EFO	information entity	vaspin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004915	"Is a quantification of vaspin, commonly termed Serpin A12 (visceral adipose tissue-derived serine protease inhibitor) , typically in serum an adipokine which may modulate insulin activity in white adipose tissue (Uniprot)." []	1142975	\N	\N	EFO	3	EFO	experimental factor	vaspin measurement
EFO:0004917	\N	\N	"Is a protocol which provides instructions on the alignment of sequencing reads to reference genome" []	EFO:0004917	"Is a protocol which provides instructions on the alignment of sequencing reads to reference genome" []	66728	\N	\N	EFO	0	EFO	high throughput sequence alignment protocol	high throughput sequence alignment protocol
EFO:0003788	EFO:0004917	\N	"A gene expression protocol is a  protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing." []	EFO:0004917	"Is a protocol which provides instructions on the alignment of sequencing reads to reference genome" []	208062	\N	\N	EFO	1	EFO	gene expression protocol	high throughput sequence alignment protocol
OBI:0000272	EFO:0003788	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0004917	"Is a protocol which provides instructions on the alignment of sequencing reads to reference genome" []	561218	\N	\N	EFO	2	EFO	protocol	high throughput sequence alignment protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004917	"Is a protocol which provides instructions on the alignment of sequencing reads to reference genome" []	1142976	\N	\N	EFO	3	EFO	information entity	high throughput sequence alignment protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004917	"Is a protocol which provides instructions on the alignment of sequencing reads to reference genome" []	2025709	\N	\N	EFO	4	EFO	experimental factor	high throughput sequence alignment protocol
EFO:0004918	\N	\N	"The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer." []	EFO:0004918	"The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer." []	66729	\N	\N	EFO	0	EFO	age at diagnosis	age at diagnosis
EFO:0004949	EFO:0004918	\N	"A temporal measurement related to disease progression" []	EFO:0004918	"The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer." []	208063	\N	\N	EFO	1	EFO	clinical temporal measurement	age at diagnosis
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004918	"The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer." []	561219	\N	\N	EFO	2	EFO	temporal measurement	age at diagnosis
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004918	"The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer." []	1142977	\N	\N	EFO	3	EFO	measurement	age at diagnosis
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004918	"The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer." []	2025710	\N	\N	EFO	4	EFO	information entity	age at diagnosis
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004918	"The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer." []	3178230	\N	\N	EFO	5	EFO	experimental factor	age at diagnosis
EFO:0004919	\N	\N	"The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population." []	EFO:0004919	"The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population." []	66730	\N	\N	EFO	0	EFO	metastasis free survival	metastasis free survival
EFO:0000482	EFO:0004919	\N	"Is the survival of a subject (or group of subjects) measured from the date of diagnosis until  locoregional or systemic recurrence,  second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." []	EFO:0004919	"The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population." []	208064	\N	\N	EFO	1	EFO	event free survival time	metastasis free survival
EFO:0000714	EFO:0000482	\N	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	EFO:0004919	"The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population." []	561220	\N	\N	EFO	2	EFO	survival time	metastasis free survival
EFO:0004949	EFO:0000714	\N	"A temporal measurement related to disease progression" []	EFO:0004919	"The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population." []	1142978	\N	\N	EFO	3	EFO	clinical temporal measurement	metastasis free survival
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004919	"The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population." []	2025711	\N	\N	EFO	4	EFO	temporal measurement	metastasis free survival
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004919	"The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population." []	3178231	\N	\N	EFO	5	EFO	measurement	metastasis free survival
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004919	"The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population." []	4388118	\N	\N	EFO	6	EFO	information entity	metastasis free survival
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004919	"The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population." []	5408768	\N	\N	EFO	7	EFO	experimental factor	metastasis free survival
EFO:0004920	\N	\N	"Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease." []	EFO:0004920	"Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease." []	66731	\N	\N	EFO	0	EFO	progression free survival	progression free survival
EFO:0000409	EFO:0004920	\N	"A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease." []	EFO:0004920	"Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease." []	208065	\N	\N	EFO	1	EFO	disease free survival	progression free survival
EFO:0000482	EFO:0000409	\N	"Is the survival of a subject (or group of subjects) measured from the date of diagnosis until  locoregional or systemic recurrence,  second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause." []	EFO:0004920	"Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease." []	561221	\N	\N	EFO	2	EFO	event free survival time	progression free survival
EFO:0000714	EFO:0000482	\N	"Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease." []	EFO:0004920	"Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease." []	1142979	\N	\N	EFO	3	EFO	survival time	progression free survival
EFO:0004949	EFO:0000714	\N	"A temporal measurement related to disease progression" []	EFO:0004920	"Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease." []	2025712	\N	\N	EFO	4	EFO	clinical temporal measurement	progression free survival
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004920	"Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease." []	3178232	\N	\N	EFO	5	EFO	temporal measurement	progression free survival
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004920	"Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease." []	4388119	\N	\N	EFO	6	EFO	measurement	progression free survival
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004920	"Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease." []	5408769	\N	\N	EFO	7	EFO	information entity	progression free survival
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004920	"Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease." []	6147495	\N	\N	EFO	8	EFO	experimental factor	progression free survival
EFO:0004921	\N	\N	"Apparently health human non-fetal tissue." []	EFO:0004921	"Apparently health human non-fetal tissue." []	66732	\N	\N	EFO	0	EFO	GM00038	GM00038
EFO:0002009	EFO:0004921	\N	"" []	EFO:0004921	"Apparently health human non-fetal tissue." []	208066	\N	\N	EFO	1	EFO	fibroblast derived cell line	GM00038
EFO:0002888	EFO:0004921	\N	"" []	EFO:0004921	"Apparently health human non-fetal tissue." []	208067	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM00038
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0004921	"Apparently health human non-fetal tissue." []	561222	\N	\N	EFO	2	EFO	cell line	GM00038
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0004921	"Apparently health human non-fetal tissue." []	561223	\N	\N	EFO	2	EFO	cell line	GM00038
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004921	"Apparently health human non-fetal tissue." []	1142980	\N	\N	EFO	3	EFO	material entity	GM00038
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004921	"Apparently health human non-fetal tissue." []	2025713	\N	\N	EFO	4	EFO	experimental factor	GM00038
EFO:0004922	\N	\N	"ATAXIA-TELANGIECTASIA; AT" []	EFO:0004922	"ATAXIA-TELANGIECTASIA; AT" []	66733	\N	\N	EFO	0	EFO	GM00719	GM00719
EFO:0001640	EFO:0004922	\N	"" []	EFO:0004922	"ATAXIA-TELANGIECTASIA; AT" []	208068	\N	\N	EFO	1	EFO	B cell derived cell line	GM00719
EFO:0002888	EFO:0004922	\N	"" []	EFO:0004922	"ATAXIA-TELANGIECTASIA; AT" []	208069	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM00719
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0004922	"ATAXIA-TELANGIECTASIA; AT" []	561224	\N	\N	EFO	2	EFO	cell line	GM00719
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0004922	"ATAXIA-TELANGIECTASIA; AT" []	561225	\N	\N	EFO	2	EFO	cell line	GM00719
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004922	"ATAXIA-TELANGIECTASIA; AT" []	1142981	\N	\N	EFO	3	EFO	material entity	GM00719
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004922	"ATAXIA-TELANGIECTASIA; AT" []	2025714	\N	\N	EFO	4	EFO	experimental factor	GM00719
EFO:0004923	\N	\N	"Any vein not in the chest or abdomen." []	EFO:0004923	"Any vein not in the chest or abdomen." []	66734	\N	\N	EFO	0	EFO	peripheral vein	peripheral vein
UBERON:0001638	\N	\N	"Any of the tubular branching vessels that carry blood from the capillaries toward the heart." [Wikipedia:Vein]	EFO:0004923	"Any vein not in the chest or abdomen." []	194688	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	vein	peripheral vein
EFO:0004925	\N	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004925	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	66735	\N	\N	EFO	0	EFO	tumor stage	tumor stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004925	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	208070	\N	\N	EFO	1	EFO	disease staging	tumor stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004925	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	561226	\N	\N	EFO	2	EFO	disposition	tumor stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004925	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	1142982	\N	\N	EFO	3	EFO	material property	tumor stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004925	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	2025715	\N	\N	EFO	4	EFO	experimental factor	tumor stage
EFO:0004926	\N	\N	"" []	EFO:0004926	"" []	66736	\N	\N	EFO	0	EFO	M stage	M stage
EFO:0004925	EFO:0004926	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004926	"" []	208071	\N	\N	EFO	1	EFO	tumor stage	M stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004926	"" []	561227	\N	\N	EFO	2	EFO	disease staging	M stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004926	"" []	1142983	\N	\N	EFO	3	EFO	disposition	M stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004926	"" []	2025716	\N	\N	EFO	4	EFO	material property	M stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004926	"" []	3178233	\N	\N	EFO	5	EFO	experimental factor	M stage
EFO:0004927	\N	\N	"regional lymph node stage" []	EFO:0004927	"regional lymph node stage" []	66737	\N	\N	EFO	0	EFO	N stage	N stage
EFO:0004925	EFO:0004927	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004927	"regional lymph node stage" []	208072	\N	\N	EFO	1	EFO	tumor stage	N stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004927	"regional lymph node stage" []	561228	\N	\N	EFO	2	EFO	disease staging	N stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004927	"regional lymph node stage" []	1142984	\N	\N	EFO	3	EFO	disposition	N stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004927	"regional lymph node stage" []	2025717	\N	\N	EFO	4	EFO	material property	N stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004927	"regional lymph node stage" []	3178234	\N	\N	EFO	5	EFO	experimental factor	N stage
EFO:0004928	\N	\N	"primary tumor staging" []	EFO:0004928	"primary tumor staging" []	66738	\N	\N	EFO	0	EFO	T stage	T stage
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004928	"primary tumor staging" []	208073	\N	\N	EFO	1	EFO	tumor stage	T stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004928	"primary tumor staging" []	561229	\N	\N	EFO	2	EFO	disease staging	T stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004928	"primary tumor staging" []	1142985	\N	\N	EFO	3	EFO	disposition	T stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004928	"primary tumor staging" []	2025718	\N	\N	EFO	4	EFO	material property	T stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004928	"primary tumor staging" []	3178235	\N	\N	EFO	5	EFO	experimental factor	T stage
EFO:0004929	\N	\N	"" []	EFO:0004929	"" []	66739	\N	\N	EFO	0	EFO	M0 distant metastasis stage	M0 distant metastasis stage
EFO:0004926	EFO:0004929	\N	"" []	EFO:0004929	"" []	208074	\N	\N	EFO	1	EFO	M stage	M0 distant metastasis stage
EFO:0004925	EFO:0004926	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004929	"" []	561230	\N	\N	EFO	2	EFO	tumor stage	M0 distant metastasis stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004929	"" []	1142986	\N	\N	EFO	3	EFO	disease staging	M0 distant metastasis stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004929	"" []	2025719	\N	\N	EFO	4	EFO	disposition	M0 distant metastasis stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004929	"" []	3178236	\N	\N	EFO	5	EFO	material property	M0 distant metastasis stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004929	"" []	4388120	\N	\N	EFO	6	EFO	experimental factor	M0 distant metastasis stage
EFO:0004930	\N	\N	"" []	EFO:0004930	"" []	66740	\N	\N	EFO	0	EFO	M1 distant metastasis stage	M1 distant metastasis stage
EFO:0004926	EFO:0004930	\N	"" []	EFO:0004930	"" []	208075	\N	\N	EFO	1	EFO	M stage	M1 distant metastasis stage
EFO:0004925	EFO:0004926	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004930	"" []	561231	\N	\N	EFO	2	EFO	tumor stage	M1 distant metastasis stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004930	"" []	1142987	\N	\N	EFO	3	EFO	disease staging	M1 distant metastasis stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004930	"" []	2025720	\N	\N	EFO	4	EFO	disposition	M1 distant metastasis stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004930	"" []	3178237	\N	\N	EFO	5	EFO	material property	M1 distant metastasis stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004930	"" []	4388121	\N	\N	EFO	6	EFO	experimental factor	M1 distant metastasis stage
EFO:0004931	\N	\N	"" []	EFO:0004931	"" []	66741	\N	\N	EFO	0	EFO	MX distant metastasis stage	MX distant metastasis stage
EFO:0004926	EFO:0004931	\N	"" []	EFO:0004931	"" []	208076	\N	\N	EFO	1	EFO	M stage	MX distant metastasis stage
EFO:0004925	EFO:0004926	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004931	"" []	561232	\N	\N	EFO	2	EFO	tumor stage	MX distant metastasis stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004931	"" []	1142988	\N	\N	EFO	3	EFO	disease staging	MX distant metastasis stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004931	"" []	2025721	\N	\N	EFO	4	EFO	disposition	MX distant metastasis stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004931	"" []	3178238	\N	\N	EFO	5	EFO	material property	MX distant metastasis stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004931	"" []	4388122	\N	\N	EFO	6	EFO	experimental factor	MX distant metastasis stage
EFO:0004932	\N	\N	"" []	EFO:0004932	"" []	66742	\N	\N	EFO	0	EFO	N0 lymph node stage	N0 lymph node stage
EFO:0004927	EFO:0004932	\N	"regional lymph node stage" []	EFO:0004932	"" []	208077	\N	\N	EFO	1	EFO	N stage	N0 lymph node stage
EFO:0004925	EFO:0004927	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004932	"" []	561233	\N	\N	EFO	2	EFO	tumor stage	N0 lymph node stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004932	"" []	1142989	\N	\N	EFO	3	EFO	disease staging	N0 lymph node stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004932	"" []	2025722	\N	\N	EFO	4	EFO	disposition	N0 lymph node stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004932	"" []	3178239	\N	\N	EFO	5	EFO	material property	N0 lymph node stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004932	"" []	4388123	\N	\N	EFO	6	EFO	experimental factor	N0 lymph node stage
EFO:0004933	\N	\N	"" []	EFO:0004933	"" []	66743	\N	\N	EFO	0	EFO	N1 lymph node stage	N1 lymph node stage
EFO:0004927	EFO:0004933	\N	"regional lymph node stage" []	EFO:0004933	"" []	208078	\N	\N	EFO	1	EFO	N stage	N1 lymph node stage
EFO:0004925	EFO:0004927	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004933	"" []	561234	\N	\N	EFO	2	EFO	tumor stage	N1 lymph node stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004933	"" []	1142990	\N	\N	EFO	3	EFO	disease staging	N1 lymph node stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004933	"" []	2025723	\N	\N	EFO	4	EFO	disposition	N1 lymph node stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004933	"" []	3178240	\N	\N	EFO	5	EFO	material property	N1 lymph node stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004933	"" []	4388124	\N	\N	EFO	6	EFO	experimental factor	N1 lymph node stage
EFO:0004934	\N	\N	"" []	EFO:0004934	"" []	66744	\N	\N	EFO	0	EFO	N2 lymph node stage	N2 lymph node stage
EFO:0004927	EFO:0004934	\N	"regional lymph node stage" []	EFO:0004934	"" []	208079	\N	\N	EFO	1	EFO	N stage	N2 lymph node stage
EFO:0004925	EFO:0004927	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004934	"" []	561235	\N	\N	EFO	2	EFO	tumor stage	N2 lymph node stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004934	"" []	1142991	\N	\N	EFO	3	EFO	disease staging	N2 lymph node stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004934	"" []	2025724	\N	\N	EFO	4	EFO	disposition	N2 lymph node stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004934	"" []	3178241	\N	\N	EFO	5	EFO	material property	N2 lymph node stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004934	"" []	4388125	\N	\N	EFO	6	EFO	experimental factor	N2 lymph node stage
EFO:0004935	\N	\N	"" []	EFO:0004935	"" []	66745	\N	\N	EFO	0	EFO	N3 lymph node stage	N3 lymph node stage
EFO:0004927	EFO:0004935	\N	"regional lymph node stage" []	EFO:0004935	"" []	208080	\N	\N	EFO	1	EFO	N stage	N3 lymph node stage
EFO:0004925	EFO:0004927	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004935	"" []	561236	\N	\N	EFO	2	EFO	tumor stage	N3 lymph node stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004935	"" []	1142992	\N	\N	EFO	3	EFO	disease staging	N3 lymph node stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004935	"" []	2025725	\N	\N	EFO	4	EFO	disposition	N3 lymph node stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004935	"" []	3178242	\N	\N	EFO	5	EFO	material property	N3 lymph node stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004935	"" []	4388126	\N	\N	EFO	6	EFO	experimental factor	N3 lymph node stage
EFO:0004936	\N	\N	"" []	EFO:0004936	"" []	66746	\N	\N	EFO	0	EFO	NX lymph node stage	NX lymph node stage
EFO:0004927	EFO:0004936	\N	"regional lymph node stage" []	EFO:0004936	"" []	208081	\N	\N	EFO	1	EFO	N stage	NX lymph node stage
EFO:0004925	EFO:0004927	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004936	"" []	561237	\N	\N	EFO	2	EFO	tumor stage	NX lymph node stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004936	"" []	1142993	\N	\N	EFO	3	EFO	disease staging	NX lymph node stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004936	"" []	2025726	\N	\N	EFO	4	EFO	disposition	NX lymph node stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004936	"" []	3178243	\N	\N	EFO	5	EFO	material property	NX lymph node stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004936	"" []	4388127	\N	\N	EFO	6	EFO	experimental factor	NX lymph node stage
EFO:0004937	\N	\N	"" []	EFO:0004937	"" []	66747	\N	\N	EFO	0	EFO	T0 stage	T0 stage
EFO:0004928	EFO:0004937	\N	"primary tumor staging" []	EFO:0004937	"" []	208082	\N	\N	EFO	1	EFO	T stage	T0 stage
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004937	"" []	561238	\N	\N	EFO	2	EFO	tumor stage	T0 stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004937	"" []	1142994	\N	\N	EFO	3	EFO	disease staging	T0 stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004937	"" []	2025727	\N	\N	EFO	4	EFO	disposition	T0 stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004937	"" []	3178244	\N	\N	EFO	5	EFO	material property	T0 stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004937	"" []	4388128	\N	\N	EFO	6	EFO	experimental factor	T0 stage
EFO:0004938	\N	\N	"" []	EFO:0004938	"" []	66748	\N	\N	EFO	0	EFO	T1 tumor stage	T1 tumor stage
EFO:0004928	EFO:0004938	\N	"primary tumor staging" []	EFO:0004938	"" []	208083	\N	\N	EFO	1	EFO	T stage	T1 tumor stage
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004938	"" []	561239	\N	\N	EFO	2	EFO	tumor stage	T1 tumor stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004938	"" []	1142995	\N	\N	EFO	3	EFO	disease staging	T1 tumor stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004938	"" []	2025728	\N	\N	EFO	4	EFO	disposition	T1 tumor stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004938	"" []	3178245	\N	\N	EFO	5	EFO	material property	T1 tumor stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004938	"" []	4388129	\N	\N	EFO	6	EFO	experimental factor	T1 tumor stage
EFO:0004939	\N	\N	"" []	EFO:0004939	"" []	66749	\N	\N	EFO	0	EFO	T2 tumor stage	T2 tumor stage
EFO:0004928	EFO:0004939	\N	"primary tumor staging" []	EFO:0004939	"" []	208084	\N	\N	EFO	1	EFO	T stage	T2 tumor stage
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004939	"" []	561240	\N	\N	EFO	2	EFO	tumor stage	T2 tumor stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004939	"" []	1142996	\N	\N	EFO	3	EFO	disease staging	T2 tumor stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004939	"" []	2025729	\N	\N	EFO	4	EFO	disposition	T2 tumor stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004939	"" []	3178246	\N	\N	EFO	5	EFO	material property	T2 tumor stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004939	"" []	4388130	\N	\N	EFO	6	EFO	experimental factor	T2 tumor stage
EFO:0004940	\N	\N	"" []	EFO:0004940	"" []	66750	\N	\N	EFO	0	EFO	T3 tumor stage	T3 tumor stage
EFO:0004928	EFO:0004940	\N	"primary tumor staging" []	EFO:0004940	"" []	208085	\N	\N	EFO	1	EFO	T stage	T3 tumor stage
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004940	"" []	561241	\N	\N	EFO	2	EFO	tumor stage	T3 tumor stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004940	"" []	1142997	\N	\N	EFO	3	EFO	disease staging	T3 tumor stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004940	"" []	2025730	\N	\N	EFO	4	EFO	disposition	T3 tumor stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004940	"" []	3178247	\N	\N	EFO	5	EFO	material property	T3 tumor stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004940	"" []	4388131	\N	\N	EFO	6	EFO	experimental factor	T3 tumor stage
EFO:0004941	\N	\N	"" []	EFO:0004941	"" []	66751	\N	\N	EFO	0	EFO	T3a tumor stage	T3a tumor stage
EFO:0004940	EFO:0004941	\N	"" []	EFO:0004941	"" []	208086	\N	\N	EFO	1	EFO	T3 tumor stage	T3a tumor stage
EFO:0004928	EFO:0004940	\N	"primary tumor staging" []	EFO:0004941	"" []	561242	\N	\N	EFO	2	EFO	T stage	T3a tumor stage
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004941	"" []	1142998	\N	\N	EFO	3	EFO	tumor stage	T3a tumor stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004941	"" []	2025731	\N	\N	EFO	4	EFO	disease staging	T3a tumor stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004941	"" []	3178248	\N	\N	EFO	5	EFO	disposition	T3a tumor stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004941	"" []	4388132	\N	\N	EFO	6	EFO	material property	T3a tumor stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004941	"" []	5408770	\N	\N	EFO	7	EFO	experimental factor	T3a tumor stage
EFO:0004942	\N	\N	"" []	EFO:0004942	"" []	66752	\N	\N	EFO	0	EFO	T3b tumor stage	T3b tumor stage
EFO:0004940	EFO:0004942	\N	"" []	EFO:0004942	"" []	208087	\N	\N	EFO	1	EFO	T3 tumor stage	T3b tumor stage
EFO:0004928	EFO:0004940	\N	"primary tumor staging" []	EFO:0004942	"" []	561243	\N	\N	EFO	2	EFO	T stage	T3b tumor stage
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004942	"" []	1142999	\N	\N	EFO	3	EFO	tumor stage	T3b tumor stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004942	"" []	2025732	\N	\N	EFO	4	EFO	disease staging	T3b tumor stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004942	"" []	3178249	\N	\N	EFO	5	EFO	disposition	T3b tumor stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004942	"" []	4388133	\N	\N	EFO	6	EFO	material property	T3b tumor stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004942	"" []	5408771	\N	\N	EFO	7	EFO	experimental factor	T3b tumor stage
EFO:0004943	\N	\N	"" []	EFO:0004943	"" []	66753	\N	\N	EFO	0	EFO	T3c tumor stage	T3c tumor stage
EFO:0004940	EFO:0004943	\N	"" []	EFO:0004943	"" []	208088	\N	\N	EFO	1	EFO	T3 tumor stage	T3c tumor stage
EFO:0004928	EFO:0004940	\N	"primary tumor staging" []	EFO:0004943	"" []	561244	\N	\N	EFO	2	EFO	T stage	T3c tumor stage
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004943	"" []	1143000	\N	\N	EFO	3	EFO	tumor stage	T3c tumor stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004943	"" []	2025733	\N	\N	EFO	4	EFO	disease staging	T3c tumor stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004943	"" []	3178250	\N	\N	EFO	5	EFO	disposition	T3c tumor stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004943	"" []	4388134	\N	\N	EFO	6	EFO	material property	T3c tumor stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004943	"" []	5408772	\N	\N	EFO	7	EFO	experimental factor	T3c tumor stage
EFO:0004944	\N	\N	"" []	EFO:0004944	"" []	66754	\N	\N	EFO	0	EFO	T4 tumor stage	T4 tumor stage
EFO:0004928	EFO:0004944	\N	"primary tumor staging" []	EFO:0004944	"" []	208089	\N	\N	EFO	1	EFO	T stage	T4 tumor stage
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004944	"" []	561245	\N	\N	EFO	2	EFO	tumor stage	T4 tumor stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004944	"" []	1143001	\N	\N	EFO	3	EFO	disease staging	T4 tumor stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004944	"" []	2025734	\N	\N	EFO	4	EFO	disposition	T4 tumor stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004944	"" []	3178251	\N	\N	EFO	5	EFO	material property	T4 tumor stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004944	"" []	4388135	\N	\N	EFO	6	EFO	experimental factor	T4 tumor stage
EFO:0004945	\N	\N	"" []	EFO:0004945	"" []	66755	\N	\N	EFO	0	EFO	T4a tumor stage	T4a tumor stage
EFO:0004944	EFO:0004945	\N	"" []	EFO:0004945	"" []	208090	\N	\N	EFO	1	EFO	T4 tumor stage	T4a tumor stage
EFO:0004928	EFO:0004944	\N	"primary tumor staging" []	EFO:0004945	"" []	561246	\N	\N	EFO	2	EFO	T stage	T4a tumor stage
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004945	"" []	1143002	\N	\N	EFO	3	EFO	tumor stage	T4a tumor stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004945	"" []	2025735	\N	\N	EFO	4	EFO	disease staging	T4a tumor stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004945	"" []	3178252	\N	\N	EFO	5	EFO	disposition	T4a tumor stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004945	"" []	4388136	\N	\N	EFO	6	EFO	material property	T4a tumor stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004945	"" []	5408773	\N	\N	EFO	7	EFO	experimental factor	T4a tumor stage
EFO:0004946	\N	\N	"" []	EFO:0004946	"" []	66756	\N	\N	EFO	0	EFO	T4b tumor stage	T4b tumor stage
EFO:0004944	EFO:0004946	\N	"" []	EFO:0004946	"" []	208091	\N	\N	EFO	1	EFO	T4 tumor stage	T4b tumor stage
EFO:0004928	EFO:0004944	\N	"primary tumor staging" []	EFO:0004946	"" []	561247	\N	\N	EFO	2	EFO	T stage	T4b tumor stage
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004946	"" []	1143003	\N	\N	EFO	3	EFO	tumor stage	T4b tumor stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004946	"" []	2025736	\N	\N	EFO	4	EFO	disease staging	T4b tumor stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004946	"" []	3178253	\N	\N	EFO	5	EFO	disposition	T4b tumor stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004946	"" []	4388137	\N	\N	EFO	6	EFO	material property	T4b tumor stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004946	"" []	5408774	\N	\N	EFO	7	EFO	experimental factor	T4b tumor stage
EFO:0004947	\N	\N	"Carcinoma in situ (CIS; abnormal cells are present but have not spread to neighboring tissue; although not cancer, CIS may become cancer and is sometimes called preinvasive cancer)" []	EFO:0004947	"Carcinoma in situ (CIS; abnormal cells are present but have not spread to neighboring tissue; although not cancer, CIS may become cancer and is sometimes called preinvasive cancer)" []	66757	\N	\N	EFO	0	EFO	Tis	Tis
EFO:0004928	EFO:0004947	\N	"primary tumor staging" []	EFO:0004947	"Carcinoma in situ (CIS; abnormal cells are present but have not spread to neighboring tissue; although not cancer, CIS may become cancer and is sometimes called preinvasive cancer)" []	208092	\N	\N	EFO	1	EFO	T stage	Tis
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004947	"Carcinoma in situ (CIS; abnormal cells are present but have not spread to neighboring tissue; although not cancer, CIS may become cancer and is sometimes called preinvasive cancer)" []	561248	\N	\N	EFO	2	EFO	tumor stage	Tis
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004947	"Carcinoma in situ (CIS; abnormal cells are present but have not spread to neighboring tissue; although not cancer, CIS may become cancer and is sometimes called preinvasive cancer)" []	1143004	\N	\N	EFO	3	EFO	disease staging	Tis
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004947	"Carcinoma in situ (CIS; abnormal cells are present but have not spread to neighboring tissue; although not cancer, CIS may become cancer and is sometimes called preinvasive cancer)" []	2025737	\N	\N	EFO	4	EFO	disposition	Tis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004947	"Carcinoma in situ (CIS; abnormal cells are present but have not spread to neighboring tissue; although not cancer, CIS may become cancer and is sometimes called preinvasive cancer)" []	3178254	\N	\N	EFO	5	EFO	material property	Tis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004947	"Carcinoma in situ (CIS; abnormal cells are present but have not spread to neighboring tissue; although not cancer, CIS may become cancer and is sometimes called preinvasive cancer)" []	4388138	\N	\N	EFO	6	EFO	experimental factor	Tis
EFO:0004948	\N	\N	"A stage in which the tumor cannot be evaluated" []	EFO:0004948	"A stage in which the tumor cannot be evaluated" []	66758	\N	\N	EFO	0	EFO	TX	TX
EFO:0004941	EFO:0004948	\N	"" []	EFO:0004948	"A stage in which the tumor cannot be evaluated" []	208093	\N	\N	EFO	1	EFO	T3a tumor stage	TX
EFO:0004940	EFO:0004941	\N	"" []	EFO:0004948	"A stage in which the tumor cannot be evaluated" []	561249	\N	\N	EFO	2	EFO	T3 tumor stage	TX
EFO:0004928	EFO:0004940	\N	"primary tumor staging" []	EFO:0004948	"A stage in which the tumor cannot be evaluated" []	1143005	\N	\N	EFO	3	EFO	T stage	TX
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0004948	"A stage in which the tumor cannot be evaluated" []	2025738	\N	\N	EFO	4	EFO	tumor stage	TX
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004948	"A stage in which the tumor cannot be evaluated" []	3178255	\N	\N	EFO	5	EFO	disease staging	TX
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004948	"A stage in which the tumor cannot be evaluated" []	4388139	\N	\N	EFO	6	EFO	disposition	TX
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004948	"A stage in which the tumor cannot be evaluated" []	5408775	\N	\N	EFO	7	EFO	material property	TX
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004948	"A stage in which the tumor cannot be evaluated" []	6147496	\N	\N	EFO	8	EFO	experimental factor	TX
EFO:0004949	\N	\N	"A temporal measurement related to disease progression" []	EFO:0004949	"A temporal measurement related to disease progression" []	66759	\N	\N	EFO	0	EFO	clinical temporal measurement	clinical temporal measurement
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004949	"A temporal measurement related to disease progression" []	208094	\N	\N	EFO	1	EFO	temporal measurement	clinical temporal measurement
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004949	"A temporal measurement related to disease progression" []	561250	\N	\N	EFO	2	EFO	measurement	clinical temporal measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004949	"A temporal measurement related to disease progression" []	1143006	\N	\N	EFO	3	EFO	information entity	clinical temporal measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004949	"A temporal measurement related to disease progression" []	2025739	\N	\N	EFO	4	EFO	experimental factor	clinical temporal measurement
EFO:0004950	\N	\N	"The point in time at which an individual was born." []	EFO:0004950	"The point in time at which an individual was born." []	66760	\N	\N	EFO	0	EFO	date of birth	date of birth
EFO:0000724	EFO:0004950	\N	"Time point at which a sample or observation is made or taken from a biomaterial as measured from some reference point." []	EFO:0004950	"The point in time at which an individual was born." []	208095	\N	\N	EFO	1	EFO	timepoint	date of birth
EFO:0000719	EFO:0000724	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004950	"The point in time at which an individual was born." []	561251	\N	\N	EFO	2	EFO	temporal measurement	date of birth
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004950	"The point in time at which an individual was born." []	1143007	\N	\N	EFO	3	EFO	measurement	date of birth
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004950	"The point in time at which an individual was born." []	2025740	\N	\N	EFO	4	EFO	information entity	date of birth
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004950	"The point in time at which an individual was born." []	3178256	\N	\N	EFO	5	EFO	experimental factor	date of birth
EFO:0004951	\N	\N	"A clinical temporal measurement indicating that the subject is alive at the end of the clinical investigation." []	EFO:0004951	"A clinical temporal measurement indicating that the subject is alive at the end of the clinical investigation." []	66761	\N	\N	EFO	0	EFO	alive at endpoint	alive at endpoint
EFO:0004949	EFO:0004951	\N	"A temporal measurement related to disease progression" []	EFO:0004951	"A clinical temporal measurement indicating that the subject is alive at the end of the clinical investigation." []	208096	\N	\N	EFO	1	EFO	clinical temporal measurement	alive at endpoint
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004951	"A clinical temporal measurement indicating that the subject is alive at the end of the clinical investigation." []	561252	\N	\N	EFO	2	EFO	temporal measurement	alive at endpoint
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004951	"A clinical temporal measurement indicating that the subject is alive at the end of the clinical investigation." []	1143008	\N	\N	EFO	3	EFO	measurement	alive at endpoint
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004951	"A clinical temporal measurement indicating that the subject is alive at the end of the clinical investigation." []	2025741	\N	\N	EFO	4	EFO	information entity	alive at endpoint
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004951	"A clinical temporal measurement indicating that the subject is alive at the end of the clinical investigation." []	3178257	\N	\N	EFO	5	EFO	experimental factor	alive at endpoint
EFO:0004952	\N	\N	"The recurrence of a disease after treatment" []	EFO:0004952	"The recurrence of a disease after treatment" []	66762	\N	\N	EFO	0	EFO	disease recurrence	disease recurrence
EFO:0004949	EFO:0004952	\N	"A temporal measurement related to disease progression" []	EFO:0004952	"The recurrence of a disease after treatment" []	208097	\N	\N	EFO	1	EFO	clinical temporal measurement	disease recurrence
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004952	"The recurrence of a disease after treatment" []	561253	\N	\N	EFO	2	EFO	temporal measurement	disease recurrence
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004952	"The recurrence of a disease after treatment" []	1143009	\N	\N	EFO	3	EFO	measurement	disease recurrence
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004952	"The recurrence of a disease after treatment" []	2025742	\N	\N	EFO	4	EFO	information entity	disease recurrence
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004952	"The recurrence of a disease after treatment" []	3178258	\N	\N	EFO	5	EFO	experimental factor	disease recurrence
EFO:0004953	\N	\N	"The point at which a clinical diagnosis is made." []	EFO:0004953	"The point at which a clinical diagnosis is made." []	66763	\N	\N	EFO	0	EFO	date of diagnosis	date of diagnosis
EFO:0000724	EFO:0004953	\N	"Time point at which a sample or observation is made or taken from a biomaterial as measured from some reference point." []	EFO:0004953	"The point at which a clinical diagnosis is made." []	208098	\N	\N	EFO	1	EFO	timepoint	date of diagnosis
EFO:0004949	EFO:0004953	\N	"A temporal measurement related to disease progression" []	EFO:0004953	"The point at which a clinical diagnosis is made." []	208099	\N	\N	EFO	1	EFO	clinical temporal measurement	date of diagnosis
EFO:0000719	EFO:0000724	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004953	"The point at which a clinical diagnosis is made." []	561254	\N	\N	EFO	2	EFO	temporal measurement	date of diagnosis
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0004953	"The point at which a clinical diagnosis is made." []	561255	\N	\N	EFO	2	EFO	temporal measurement	date of diagnosis
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004953	"The point at which a clinical diagnosis is made." []	1143010	\N	\N	EFO	3	EFO	measurement	date of diagnosis
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004953	"The point at which a clinical diagnosis is made." []	2025743	\N	\N	EFO	4	EFO	information entity	date of diagnosis
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004953	"The point at which a clinical diagnosis is made." []	3178259	\N	\N	EFO	5	EFO	experimental factor	date of diagnosis
EFO:0004954	\N	\N	"Staging information for melanoma." []	EFO:0004954	"Staging information for melanoma." []	66764	\N	\N	EFO	0	EFO	melanoma staging	melanoma staging
EFO:0000410	EFO:0004954	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004954	"Staging information for melanoma." []	208100	\N	\N	EFO	1	EFO	disease staging	melanoma staging
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004954	"Staging information for melanoma." []	561256	\N	\N	EFO	2	EFO	disposition	melanoma staging
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004954	"Staging information for melanoma." []	1143011	\N	\N	EFO	3	EFO	material property	melanoma staging
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004954	"Staging information for melanoma." []	2025744	\N	\N	EFO	4	EFO	experimental factor	melanoma staging
EFO:0004955	\N	\N	"The measurement in millimeters of the vertical thickness of primary cutaneous melanoma. Breslow thickness is measured from the granular layer of the epidermis, or the ulcer base (if ulcerated), to the deepest tumor cells. It is used in staging of melanoma. (NCI)" []	EFO:0004955	"The measurement in millimeters of the vertical thickness of primary cutaneous melanoma. Breslow thickness is measured from the granular layer of the epidermis, or the ulcer base (if ulcerated), to the deepest tumor cells. It is used in staging of melanoma. (NCI)" []	66765	\N	\N	EFO	0	EFO	Breslow thickness	Breslow thickness
EFO:0001444	EFO:0004955	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004955	"The measurement in millimeters of the vertical thickness of primary cutaneous melanoma. Breslow thickness is measured from the granular layer of the epidermis, or the ulcer base (if ulcerated), to the deepest tumor cells. It is used in staging of melanoma. (NCI)" []	208101	\N	\N	EFO	1	EFO	measurement	Breslow thickness
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004955	"The measurement in millimeters of the vertical thickness of primary cutaneous melanoma. Breslow thickness is measured from the granular layer of the epidermis, or the ulcer base (if ulcerated), to the deepest tumor cells. It is used in staging of melanoma. (NCI)" []	561257	\N	\N	EFO	2	EFO	information entity	Breslow thickness
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004955	"The measurement in millimeters of the vertical thickness of primary cutaneous melanoma. Breslow thickness is measured from the granular layer of the epidermis, or the ulcer base (if ulcerated), to the deepest tumor cells. It is used in staging of melanoma. (NCI)" []	1143012	\N	\N	EFO	3	EFO	experimental factor	Breslow thickness
EFO:0004956	\N	\N	"A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" []	EFO:0004956	"A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" []	66766	\N	\N	EFO	0	EFO	Clark level	Clark level
EFO:0004954	EFO:0004956	\N	"Staging information for melanoma." []	EFO:0004956	"A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" []	208102	\N	\N	EFO	1	EFO	melanoma staging	Clark level
EFO:0000410	EFO:0004954	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004956	"A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" []	561258	\N	\N	EFO	2	EFO	disease staging	Clark level
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004956	"A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" []	1143013	\N	\N	EFO	3	EFO	disposition	Clark level
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004956	"A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" []	2025745	\N	\N	EFO	4	EFO	material property	Clark level
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004956	"A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" []	3178260	\N	\N	EFO	5	EFO	experimental factor	Clark level
EFO:0004957	\N	\N	"A morphologic finding indicating that the cutaneous melanoma is confined to the epidermis and does not invade the dermis." []	EFO:0004957	"A morphologic finding indicating that the cutaneous melanoma is confined to the epidermis and does not invade the dermis." []	66767	\N	\N	EFO	0	EFO	Clark level I	Clark level I
EFO:0004956	EFO:0004957	\N	"A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" []	EFO:0004957	"A morphologic finding indicating that the cutaneous melanoma is confined to the epidermis and does not invade the dermis." []	208103	\N	\N	EFO	1	EFO	Clark level	Clark level I
EFO:0004954	EFO:0004956	\N	"Staging information for melanoma." []	EFO:0004957	"A morphologic finding indicating that the cutaneous melanoma is confined to the epidermis and does not invade the dermis." []	561259	\N	\N	EFO	2	EFO	melanoma staging	Clark level I
EFO:0000410	EFO:0004954	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004957	"A morphologic finding indicating that the cutaneous melanoma is confined to the epidermis and does not invade the dermis." []	1143014	\N	\N	EFO	3	EFO	disease staging	Clark level I
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004957	"A morphologic finding indicating that the cutaneous melanoma is confined to the epidermis and does not invade the dermis." []	2025746	\N	\N	EFO	4	EFO	disposition	Clark level I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004957	"A morphologic finding indicating that the cutaneous melanoma is confined to the epidermis and does not invade the dermis." []	3178261	\N	\N	EFO	5	EFO	material property	Clark level I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004957	"A morphologic finding indicating that the cutaneous melanoma is confined to the epidermis and does not invade the dermis." []	4388140	\N	\N	EFO	6	EFO	experimental factor	Clark level I
EFO:0004958	\N	\N	"A morphologic finding indicating that the cutaneous melanoma has invaded part of the papillary dermis but the malignant cellular infiltrate has not reached the papillary-reticular dermis interface." []	EFO:0004958	"A morphologic finding indicating that the cutaneous melanoma has invaded part of the papillary dermis but the malignant cellular infiltrate has not reached the papillary-reticular dermis interface." []	66768	\N	\N	EFO	0	EFO	Clark level II	Clark level II
EFO:0004956	EFO:0004958	\N	"A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" []	EFO:0004958	"A morphologic finding indicating that the cutaneous melanoma has invaded part of the papillary dermis but the malignant cellular infiltrate has not reached the papillary-reticular dermis interface." []	208104	\N	\N	EFO	1	EFO	Clark level	Clark level II
EFO:0004954	EFO:0004956	\N	"Staging information for melanoma." []	EFO:0004958	"A morphologic finding indicating that the cutaneous melanoma has invaded part of the papillary dermis but the malignant cellular infiltrate has not reached the papillary-reticular dermis interface." []	561260	\N	\N	EFO	2	EFO	melanoma staging	Clark level II
EFO:0000410	EFO:0004954	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004958	"A morphologic finding indicating that the cutaneous melanoma has invaded part of the papillary dermis but the malignant cellular infiltrate has not reached the papillary-reticular dermis interface." []	1143015	\N	\N	EFO	3	EFO	disease staging	Clark level II
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004958	"A morphologic finding indicating that the cutaneous melanoma has invaded part of the papillary dermis but the malignant cellular infiltrate has not reached the papillary-reticular dermis interface." []	2025747	\N	\N	EFO	4	EFO	disposition	Clark level II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004958	"A morphologic finding indicating that the cutaneous melanoma has invaded part of the papillary dermis but the malignant cellular infiltrate has not reached the papillary-reticular dermis interface." []	3178262	\N	\N	EFO	5	EFO	material property	Clark level II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004958	"A morphologic finding indicating that the cutaneous melanoma has invaded part of the papillary dermis but the malignant cellular infiltrate has not reached the papillary-reticular dermis interface." []	4388141	\N	\N	EFO	6	EFO	experimental factor	Clark level II
EFO:0004959	\N	\N	"A morphologic finding indicating that the cutaneous melanoma has invaded the entire thickness of the papillary dermis but the malignant cellular infiltrate does not extend into the reticular dermis." []	EFO:0004959	"A morphologic finding indicating that the cutaneous melanoma has invaded the entire thickness of the papillary dermis but the malignant cellular infiltrate does not extend into the reticular dermis." []	66769	\N	\N	EFO	0	EFO	Clark level III	Clark level III
EFO:0004956	EFO:0004959	\N	"A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" []	EFO:0004959	"A morphologic finding indicating that the cutaneous melanoma has invaded the entire thickness of the papillary dermis but the malignant cellular infiltrate does not extend into the reticular dermis." []	208105	\N	\N	EFO	1	EFO	Clark level	Clark level III
EFO:0004954	EFO:0004956	\N	"Staging information for melanoma." []	EFO:0004959	"A morphologic finding indicating that the cutaneous melanoma has invaded the entire thickness of the papillary dermis but the malignant cellular infiltrate does not extend into the reticular dermis." []	561261	\N	\N	EFO	2	EFO	melanoma staging	Clark level III
EFO:0000410	EFO:0004954	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004959	"A morphologic finding indicating that the cutaneous melanoma has invaded the entire thickness of the papillary dermis but the malignant cellular infiltrate does not extend into the reticular dermis." []	1143016	\N	\N	EFO	3	EFO	disease staging	Clark level III
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004959	"A morphologic finding indicating that the cutaneous melanoma has invaded the entire thickness of the papillary dermis but the malignant cellular infiltrate does not extend into the reticular dermis." []	2025748	\N	\N	EFO	4	EFO	disposition	Clark level III
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004959	"A morphologic finding indicating that the cutaneous melanoma has invaded the entire thickness of the papillary dermis but the malignant cellular infiltrate does not extend into the reticular dermis." []	3178263	\N	\N	EFO	5	EFO	material property	Clark level III
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004959	"A morphologic finding indicating that the cutaneous melanoma has invaded the entire thickness of the papillary dermis but the malignant cellular infiltrate does not extend into the reticular dermis." []	4388142	\N	\N	EFO	6	EFO	experimental factor	Clark level III
EFO:0004960	\N	\N	"A morphologic finding indicating that the cutaneous melanoma has invaded the reticular dermis" []	EFO:0004960	"A morphologic finding indicating that the cutaneous melanoma has invaded the reticular dermis" []	66770	\N	\N	EFO	0	EFO	Clark level IV	Clark level IV
EFO:0004956	EFO:0004960	\N	"A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" []	EFO:0004960	"A morphologic finding indicating that the cutaneous melanoma has invaded the reticular dermis" []	208106	\N	\N	EFO	1	EFO	Clark level	Clark level IV
EFO:0004954	EFO:0004956	\N	"Staging information for melanoma." []	EFO:0004960	"A morphologic finding indicating that the cutaneous melanoma has invaded the reticular dermis" []	561262	\N	\N	EFO	2	EFO	melanoma staging	Clark level IV
EFO:0000410	EFO:0004954	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004960	"A morphologic finding indicating that the cutaneous melanoma has invaded the reticular dermis" []	1143017	\N	\N	EFO	3	EFO	disease staging	Clark level IV
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004960	"A morphologic finding indicating that the cutaneous melanoma has invaded the reticular dermis" []	2025749	\N	\N	EFO	4	EFO	disposition	Clark level IV
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004960	"A morphologic finding indicating that the cutaneous melanoma has invaded the reticular dermis" []	3178264	\N	\N	EFO	5	EFO	material property	Clark level IV
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004960	"A morphologic finding indicating that the cutaneous melanoma has invaded the reticular dermis" []	4388143	\N	\N	EFO	6	EFO	experimental factor	Clark level IV
EFO:0004961	\N	\N	"A morphologic finding indicating that the cutaneous melanoma has invaded the subcutaneous tissue." []	EFO:0004961	"A morphologic finding indicating that the cutaneous melanoma has invaded the subcutaneous tissue." []	66771	\N	\N	EFO	0	EFO	Clark level V	Clark level V
EFO:0004956	EFO:0004961	\N	"A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS" []	EFO:0004961	"A morphologic finding indicating that the cutaneous melanoma has invaded the subcutaneous tissue." []	208107	\N	\N	EFO	1	EFO	Clark level	Clark level V
EFO:0004954	EFO:0004956	\N	"Staging information for melanoma." []	EFO:0004961	"A morphologic finding indicating that the cutaneous melanoma has invaded the subcutaneous tissue." []	561263	\N	\N	EFO	2	EFO	melanoma staging	Clark level V
EFO:0000410	EFO:0004954	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0004961	"A morphologic finding indicating that the cutaneous melanoma has invaded the subcutaneous tissue." []	1143018	\N	\N	EFO	3	EFO	disease staging	Clark level V
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004961	"A morphologic finding indicating that the cutaneous melanoma has invaded the subcutaneous tissue." []	2025750	\N	\N	EFO	4	EFO	disposition	Clark level V
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004961	"A morphologic finding indicating that the cutaneous melanoma has invaded the subcutaneous tissue." []	3178265	\N	\N	EFO	5	EFO	material property	Clark level V
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004961	"A morphologic finding indicating that the cutaneous melanoma has invaded the subcutaneous tissue." []	4388144	\N	\N	EFO	6	EFO	experimental factor	Clark level V
EFO:0004963	\N	\N	"a genetic transformation that involves the insertion of a protein coding cDNA sequence at a particular locus in an organism's chromosome. Typically, this is done in mice since the technology for this process is more refined, and because mouse embryonic stem cells are easily manipulated. The difference between knock-in technology and transgenic technology is that a knock-in involves a gene inserted into a specific locus, and is a \\"targeted\\" insertion." []	EFO:0004963	"a genetic transformation that involves the insertion of a protein coding cDNA sequence at a particular locus in an organism's chromosome. Typically, this is done in mice since the technology for this process is more refined, and because mouse embryonic stem cells are easily manipulated. The difference between knock-in technology and transgenic technology is that a knock-in involves a gene inserted into a specific locus, and is a \\"targeted\\" insertion." []	66772	\N	\N	EFO	0	EFO	gene knock in	gene knock in
EFO:0000510	EFO:0004963	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0004963	"a genetic transformation that involves the insertion of a protein coding cDNA sequence at a particular locus in an organism's chromosome. Typically, this is done in mice since the technology for this process is more refined, and because mouse embryonic stem cells are easily manipulated. The difference between knock-in technology and transgenic technology is that a knock-in involves a gene inserted into a specific locus, and is a \\"targeted\\" insertion." []	208108	\N	\N	EFO	1	EFO	genetic modification	gene knock in
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0004963	"a genetic transformation that involves the insertion of a protein coding cDNA sequence at a particular locus in an organism's chromosome. Typically, this is done in mice since the technology for this process is more refined, and because mouse embryonic stem cells are easily manipulated. The difference between knock-in technology and transgenic technology is that a knock-in involves a gene inserted into a specific locus, and is a \\"targeted\\" insertion." []	561264	\N	\N	EFO	2	EFO	experimental process	gene knock in
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0004963	"a genetic transformation that involves the insertion of a protein coding cDNA sequence at a particular locus in an organism's chromosome. Typically, this is done in mice since the technology for this process is more refined, and because mouse embryonic stem cells are easily manipulated. The difference between knock-in technology and transgenic technology is that a knock-in involves a gene inserted into a specific locus, and is a \\"targeted\\" insertion." []	1143019	\N	\N	EFO	3	EFO	planned process	gene knock in
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0004963	"a genetic transformation that involves the insertion of a protein coding cDNA sequence at a particular locus in an organism's chromosome. Typically, this is done in mice since the technology for this process is more refined, and because mouse embryonic stem cells are easily manipulated. The difference between knock-in technology and transgenic technology is that a knock-in involves a gene inserted into a specific locus, and is a \\"targeted\\" insertion." []	2025751	\N	\N	EFO	4	EFO	process	gene knock in
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004963	"a genetic transformation that involves the insertion of a protein coding cDNA sequence at a particular locus in an organism's chromosome. Typically, this is done in mice since the technology for this process is more refined, and because mouse embryonic stem cells are easily manipulated. The difference between knock-in technology and transgenic technology is that a knock-in involves a gene inserted into a specific locus, and is a \\"targeted\\" insertion." []	3178266	\N	\N	EFO	5	EFO	experimental factor	gene knock in
EFO:0004964	\N	\N	"A RNA extract that is the output of an extraction process in which total RNA from either whole cells or from specific cellular compartment(s)/organelle(s) are isolated from a specimenA RNA extract that is the output of an extraction process in which total celluar and organelle RNA molecules are isolated from a specimen." []	EFO:0004964	"A RNA extract that is the output of an extraction process in which total RNA from either whole cells or from specific cellular compartment(s)/organelle(s) are isolated from a specimenA RNA extract that is the output of an extraction process in which total celluar and organelle RNA molecules are isolated from a specimen." []	66773	\N	\N	EFO	0	EFO	total RNA	total RNA
CHEBI:33697	EFO:0004964	\N	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	EFO:0004964	"A RNA extract that is the output of an extraction process in which total RNA from either whole cells or from specific cellular compartment(s)/organelle(s) are isolated from a specimenA RNA extract that is the output of an extraction process in which total celluar and organelle RNA molecules are isolated from a specimen." []	208109	\N	\N	EFO	1	EFO	RNA	total RNA
CHEBI:37577	CHEBI:33697	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0004964	"A RNA extract that is the output of an extraction process in which total RNA from either whole cells or from specific cellular compartment(s)/organelle(s) are isolated from a specimenA RNA extract that is the output of an extraction process in which total celluar and organelle RNA molecules are isolated from a specimen." []	561265	\N	\N	EFO	2	EFO	chemical compound	total RNA
EFO:0004446	CHEBI:33697	\N	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	EFO:0004964	"A RNA extract that is the output of an extraction process in which total RNA from either whole cells or from specific cellular compartment(s)/organelle(s) are isolated from a specimenA RNA extract that is the output of an extraction process in which total celluar and organelle RNA molecules are isolated from a specimen." []	561266	\N	\N	EFO	2	EFO	biological macromolecule	total RNA
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0004964	"A RNA extract that is the output of an extraction process in which total RNA from either whole cells or from specific cellular compartment(s)/organelle(s) are isolated from a specimenA RNA extract that is the output of an extraction process in which total celluar and organelle RNA molecules are isolated from a specimen." []	1143020	\N	\N	EFO	3	EFO	chemical entity	total RNA
BFO:0000040	EFO:0004446	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004964	"A RNA extract that is the output of an extraction process in which total RNA from either whole cells or from specific cellular compartment(s)/organelle(s) are isolated from a specimenA RNA extract that is the output of an extraction process in which total celluar and organelle RNA molecules are isolated from a specimen." []	1143021	\N	\N	EFO	3	EFO	material entity	total RNA
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004964	"A RNA extract that is the output of an extraction process in which total RNA from either whole cells or from specific cellular compartment(s)/organelle(s) are isolated from a specimenA RNA extract that is the output of an extraction process in which total celluar and organelle RNA molecules are isolated from a specimen." []	2025752	\N	\N	EFO	4	EFO	material entity	total RNA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004964	"A RNA extract that is the output of an extraction process in which total RNA from either whole cells or from specific cellular compartment(s)/organelle(s) are isolated from a specimenA RNA extract that is the output of an extraction process in which total celluar and organelle RNA molecules are isolated from a specimen." []	3178267	\N	\N	EFO	5	EFO	experimental factor	total RNA
EFO:0004967	\N	\N	"" []	EFO:0004967	"" []	66774	\N	\N	EFO	0	EFO	Alexa Fluor 647	Alexa Fluor 647
CHEBI:37577	EFO:0004967	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0004967	"" []	208110	\N	\N	EFO	1	EFO	chemical compound	Alexa Fluor 647
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0004967	"" []	561267	\N	\N	EFO	2	EFO	chemical entity	Alexa Fluor 647
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004967	"" []	1143022	\N	\N	EFO	3	EFO	material entity	Alexa Fluor 647
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004967	"" []	2025754	\N	\N	EFO	4	EFO	experimental factor	Alexa Fluor 647
EFO:0004968	\N	\N	"" []	EFO:0004968	"" []	66775	\N	\N	EFO	0	EFO	Alexa Fluor 555	Alexa Fluor 555
CHEBI:37577	EFO:0004968	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0004968	"" []	208111	\N	\N	EFO	1	EFO	chemical compound	Alexa Fluor 555
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0004968	"" []	561268	\N	\N	EFO	2	EFO	chemical entity	Alexa Fluor 555
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004968	"" []	1143023	\N	\N	EFO	3	EFO	material entity	Alexa Fluor 555
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004968	"" []	2025755	\N	\N	EFO	4	EFO	experimental factor	Alexa Fluor 555
EFO:0004972	\N	\N	"The total sum of the genetic information of an organism's somatic cells" []	EFO:0004972	"The total sum of the genetic information of an organism's somatic cells" []	66776	\N	\N	EFO	0	EFO	somatic genotype	somatic genotype
EFO:0000513	EFO:0004972	\N	"The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment." []	EFO:0004972	"The total sum of the genetic information of an organism's somatic cells" []	208112	\N	\N	EFO	1	EFO	genotype	somatic genotype
EFO:0004554	EFO:0000513	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0004972	"The total sum of the genetic information of an organism's somatic cells" []	561269	\N	\N	EFO	2	EFO	genomic measurement	somatic genotype
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004972	"The total sum of the genetic information of an organism's somatic cells" []	1143024	\N	\N	EFO	3	EFO	measurement	somatic genotype
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004972	"The total sum of the genetic information of an organism's somatic cells" []	2025756	\N	\N	EFO	4	EFO	information entity	somatic genotype
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004972	"The total sum of the genetic information of an organism's somatic cells" []	3178268	\N	\N	EFO	5	EFO	experimental factor	somatic genotype
EFO:0004973	\N	\N	"The total sum of the genetic information of an organism's germline" []	EFO:0004973	"The total sum of the genetic information of an organism's germline" []	66777	\N	\N	EFO	0	EFO	germline genotype	germline genotype
EFO:0000513	EFO:0004973	\N	"The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment." []	EFO:0004973	"The total sum of the genetic information of an organism's germline" []	208113	\N	\N	EFO	1	EFO	genotype	germline genotype
EFO:0004554	EFO:0000513	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0004973	"The total sum of the genetic information of an organism's germline" []	561270	\N	\N	EFO	2	EFO	genomic measurement	germline genotype
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004973	"The total sum of the genetic information of an organism's germline" []	1143025	\N	\N	EFO	3	EFO	measurement	germline genotype
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004973	"The total sum of the genetic information of an organism's germline" []	2025757	\N	\N	EFO	4	EFO	information entity	germline genotype
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004973	"The total sum of the genetic information of an organism's germline" []	3178269	\N	\N	EFO	5	EFO	experimental factor	germline genotype
EFO:0004979	\N	\N	"Compressive strength index (CSI) is a predictive measure for hip fracture risk that integrates multiple parameters including hip BMD, femur neck area, and weight." []	EFO:0004979	"Compressive strength index (CSI) is a predictive measure for hip fracture risk that integrates multiple parameters including hip BMD, femur neck area, and weight." []	66778	\N	\N	EFO	0	EFO	comprehensive strength index	comprehensive strength index
EFO:0004302	EFO:0004979	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004979	"Compressive strength index (CSI) is a predictive measure for hip fracture risk that integrates multiple parameters including hip BMD, femur neck area, and weight." []	208114	\N	\N	EFO	1	EFO	anthropometric measurement	comprehensive strength index
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004979	"Compressive strength index (CSI) is a predictive measure for hip fracture risk that integrates multiple parameters including hip BMD, femur neck area, and weight." []	561271	\N	\N	EFO	2	EFO	measurement	comprehensive strength index
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004979	"Compressive strength index (CSI) is a predictive measure for hip fracture risk that integrates multiple parameters including hip BMD, femur neck area, and weight." []	1143026	\N	\N	EFO	3	EFO	information entity	comprehensive strength index
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004979	"Compressive strength index (CSI) is a predictive measure for hip fracture risk that integrates multiple parameters including hip BMD, femur neck area, and weight." []	2025758	\N	\N	EFO	4	EFO	experimental factor	comprehensive strength index
EFO:0004980	\N	\N	"Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture." []	EFO:0004980	"Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture." []	66779	\N	\N	EFO	0	EFO	appendicular lean mass	appendicular lean mass
EFO:0004302	EFO:0004980	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004980	"Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture." []	208115	\N	\N	EFO	1	EFO	anthropometric measurement	appendicular lean mass
EFO:0004516	EFO:0004980	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0004980	"Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture." []	208116	\N	\N	EFO	1	EFO	bone fracture related measurement	appendicular lean mass
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004980	"Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture." []	561272	\N	\N	EFO	2	EFO	measurement	appendicular lean mass
EFO:0004512	EFO:0004516	\N	"" []	EFO:0004980	"Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture." []	561273	\N	\N	EFO	2	EFO	bone measurement	appendicular lean mass
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004980	"Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture." []	2025760	\N	\N	EFO	4	EFO	information entity	appendicular lean mass
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004980	"Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture." []	1143028	\N	\N	EFO	3	EFO	measurement	appendicular lean mass
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004980	"Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture." []	2999610	\N	\N	EFO	5	EFO	experimental factor	appendicular lean mass
EFO:0004981	\N	\N	"The peridontal microbiome is a  collection of collectivity of microorganisms isolated from human gum." []	EFO:0004981	"The peridontal microbiome is a  collection of collectivity of microorganisms isolated from human gum." []	66780	\N	\N	EFO	0	EFO	peridontal microbiome	peridontal microbiome
EFO:0004982	EFO:0004981	\N	"A collection or collectivity of microorganisms." []	EFO:0004981	"The peridontal microbiome is a  collection of collectivity of microorganisms isolated from human gum." []	208117	\N	\N	EFO	1	EFO	microbiome	peridontal microbiome
OBI:0000181	EFO:0004982	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0004981	"The peridontal microbiome is a  collection of collectivity of microorganisms isolated from human gum." []	561274	\N	\N	EFO	2	EFO	population	peridontal microbiome
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004981	"The peridontal microbiome is a  collection of collectivity of microorganisms isolated from human gum." []	1143029	\N	\N	EFO	3	EFO	material entity	peridontal microbiome
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004981	"The peridontal microbiome is a  collection of collectivity of microorganisms isolated from human gum." []	2025761	\N	\N	EFO	4	EFO	experimental factor	peridontal microbiome
EFO:0004982	\N	\N	"A collection or collectivity of microorganisms." []	EFO:0004982	"A collection or collectivity of microorganisms." []	66781	\N	\N	EFO	0	EFO	microbiome	microbiome
OBI:0000181	EFO:0004982	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0004982	"A collection or collectivity of microorganisms." []	208118	\N	\N	EFO	1	EFO	population	microbiome
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004982	"A collection or collectivity of microorganisms." []	561275	\N	\N	EFO	2	EFO	material entity	microbiome
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004982	"A collection or collectivity of microorganisms." []	1143030	\N	\N	EFO	3	EFO	experimental factor	microbiome
EFO:0004983	\N	\N	"Complement C3 measurement is a quantification of the C3 glycoprotein typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	EFO:0004983	"Complement C3 measurement is a quantification of the C3 glycoprotein typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	66782	\N	\N	EFO	0	EFO	complement C3 measurement	complement C3 measurement
EFO:0004555	EFO:0004983	\N	"Is the quantification of some glycoprotein." []	EFO:0004983	"Complement C3 measurement is a quantification of the C3 glycoprotein typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	208119	\N	\N	EFO	1	EFO	glycoprotein measurement	complement C3 measurement
EFO:0006846	EFO:0004983	\N	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	EFO:0004983	"Complement C3 measurement is a quantification of the C3 glycoprotein typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	208120	\N	\N	EFO	1	EFO	autoimmune disease biomarker	complement C3 measurement
EFO:0004747	EFO:0004555	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004983	"Complement C3 measurement is a quantification of the C3 glycoprotein typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	561276	\N	\N	EFO	2	EFO	protein measurement	complement C3 measurement
EFO:0001444	EFO:0006846	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004983	"Complement C3 measurement is a quantification of the C3 glycoprotein typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	561277	\N	\N	EFO	2	EFO	measurement	complement C3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004983	"Complement C3 measurement is a quantification of the C3 glycoprotein typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	1143031	\N	\N	EFO	3	EFO	measurement	complement C3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004983	"Complement C3 measurement is a quantification of the C3 glycoprotein typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	2025762	\N	\N	EFO	4	EFO	information entity	complement C3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004983	"Complement C3 measurement is a quantification of the C3 glycoprotein typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	2999611	\N	\N	EFO	5	EFO	experimental factor	complement C3 measurement
EFO:0004984	\N	\N	"Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	EFO:0004984	"Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	66783	\N	\N	EFO	0	EFO	complement C4 measurement	complement C4 measurement
EFO:0004555	EFO:0004984	\N	"Is the quantification of some glycoprotein." []	EFO:0004984	"Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	208121	\N	\N	EFO	1	EFO	glycoprotein measurement	complement C4 measurement
EFO:0006846	EFO:0004984	\N	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	EFO:0004984	"Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	208122	\N	\N	EFO	1	EFO	autoimmune disease biomarker	complement C4 measurement
EFO:0004747	EFO:0004555	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0004984	"Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	561278	\N	\N	EFO	2	EFO	protein measurement	complement C4 measurement
EFO:0001444	EFO:0006846	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004984	"Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	561279	\N	\N	EFO	2	EFO	measurement	complement C4 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004984	"Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	1143033	\N	\N	EFO	3	EFO	measurement	complement C4 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004984	"Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	2025764	\N	\N	EFO	4	EFO	information entity	complement C4 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004984	"Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes." []	2999612	\N	\N	EFO	5	EFO	experimental factor	complement C4 measurement
EFO:0004985	\N	\N	"A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels  of platelet reactivity are reported to be associated with cardiovascular events." []	EFO:0004985	"A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels  of platelet reactivity are reported to be associated with cardiovascular events." []	66784	\N	\N	EFO	0	EFO	platelet reactivity measurement	platelet reactivity measurement
EFO:0005036	EFO:0004985	\N	"A measurement quantifying some platelet" []	EFO:0004985	"A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels  of platelet reactivity are reported to be associated with cardiovascular events." []	208123	\N	\N	EFO	1	EFO	platelet measurement	platelet reactivity measurement
EFO:0005278	EFO:0004985	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0004985	"A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels  of platelet reactivity are reported to be associated with cardiovascular events." []	208124	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	platelet reactivity measurement
EFO:0004503	EFO:0005036	\N	"A measurement quantifying some blood cell, or component." []	EFO:0004985	"A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels  of platelet reactivity are reported to be associated with cardiovascular events." []	561280	\N	\N	EFO	2	EFO	hematological measurement	platelet reactivity measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0004985	"A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels  of platelet reactivity are reported to be associated with cardiovascular events." []	561281	\N	\N	EFO	2	EFO	cardiovascular measurement	platelet reactivity measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004985	"A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels  of platelet reactivity are reported to be associated with cardiovascular events." []	1143035	\N	\N	EFO	3	EFO	measurement	platelet reactivity measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004985	"A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels  of platelet reactivity are reported to be associated with cardiovascular events." []	1143036	\N	\N	EFO	3	EFO	measurement	platelet reactivity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004985	"A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels  of platelet reactivity are reported to be associated with cardiovascular events." []	2025766	\N	\N	EFO	4	EFO	information entity	platelet reactivity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004985	"A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels  of platelet reactivity are reported to be associated with cardiovascular events." []	3178270	\N	\N	EFO	5	EFO	experimental factor	platelet reactivity measurement
EFO:0004986	\N	\N	"Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." []	EFO:0004986	"Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." []	66785	\N	\N	EFO	0	EFO	embryonal carcinoma	embryonal carcinoma
EFO:0000313	EFO:0004986	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0004986	"Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." []	208125	\N	\N	EFO	1	EFO	carcinoma	embryonal carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0004986	"Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." []	561282	\N	\N	EFO	2	EFO	cancer	embryonal carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0004986	"Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." []	561283	\N	\N	EFO	2	EFO	epithelial neoplasm	embryonal carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004986	"Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." []	1143037	\N	\N	EFO	3	EFO	neoplasm	embryonal carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0004986	"Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." []	1143038	\N	\N	EFO	3	EFO	neoplasm	embryonal carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004986	"Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." []	2025767	\N	\N	EFO	4	EFO	disease	embryonal carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004986	"Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." []	3178271	\N	\N	EFO	5	EFO	disposition	embryonal carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004986	"Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." []	4388145	\N	\N	EFO	6	EFO	material property	embryonal carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004986	"Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." []	5408776	\N	\N	EFO	7	EFO	experimental factor	embryonal carcinoma
EFO:0004987	\N	\N	"A cell which bears embryonal carcinoma." []	EFO:0004987	"A cell which bears embryonal carcinoma." []	66786	\N	\N	EFO	0	EFO	embryonal carcinoma cell	embryonal carcinoma cell
CL:0002321	EFO:0004987	\N	"A cell of the embryo." []	EFO:0004987	"A cell which bears embryonal carcinoma." []	208126	\N	\N	EFO	1	EFO	embryonic cell	embryonal carcinoma cell
EFO:0005934	EFO:0004987	\N	"" []	EFO:0004987	"A cell which bears embryonal carcinoma." []	208127	\N	\N	EFO	1	EFO	disease cell type	embryonal carcinoma cell
EFO:0000324	CL:0002321	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0004987	"A cell which bears embryonal carcinoma." []	561284	\N	\N	EFO	2	EFO	cell type	embryonal carcinoma cell
EFO:0000324	EFO:0005934	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0004987	"A cell which bears embryonal carcinoma." []	561285	\N	\N	EFO	2	EFO	cell type	embryonal carcinoma cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004987	"A cell which bears embryonal carcinoma." []	1143039	\N	\N	EFO	3	EFO	material entity	embryonal carcinoma cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004987	"A cell which bears embryonal carcinoma." []	2025768	\N	\N	EFO	4	EFO	experimental factor	embryonal carcinoma cell
EFO:0004990	\N	\N	"J1 is an embryonic cell line." []	EFO:0004990	"J1 is an embryonic cell line." []	66787	\N	\N	EFO	0	EFO	J1	J1
EFO:0003040	EFO:0004990	\N	"" []	EFO:0004990	"J1 is an embryonic cell line." []	208128	\N	\N	EFO	1	EFO	embryonic cell line	J1
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0004990	"J1 is an embryonic cell line." []	561286	\N	\N	EFO	2	EFO	cell line	J1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0004990	"J1 is an embryonic cell line." []	1143040	\N	\N	EFO	3	EFO	material entity	J1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004990	"J1 is an embryonic cell line." []	2025769	\N	\N	EFO	4	EFO	experimental factor	J1
EFO:0004991	\N	\N	"A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)" []	EFO:0004991	"A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)" []	66788	\N	\N	EFO	0	EFO	Myasthenia gravis	Myasthenia gravis
EFO:0005140	EFO:0004991	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0004991	"A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)" []	208129	\N	\N	EFO	1	EFO	autoimmune disease	Myasthenia gravis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0004991	"A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)" []	561287	\N	\N	EFO	2	EFO	immune system disease	Myasthenia gravis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004991	"A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)" []	1143041	\N	\N	EFO	3	EFO	disease	Myasthenia gravis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004991	"A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)" []	2025770	\N	\N	EFO	4	EFO	disposition	Myasthenia gravis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004991	"A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)" []	3178272	\N	\N	EFO	5	EFO	material property	Myasthenia gravis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004991	"A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)" []	4388146	\N	\N	EFO	6	EFO	experimental factor	Myasthenia gravis
EFO:0004992	\N	\N	"An acute or chronic inflammatory process affecting the middle ear." []	EFO:0004992	"An acute or chronic inflammatory process affecting the middle ear." []	66789	\N	\N	EFO	0	EFO	Otitis media	Otitis media
EFO:0000524	EFO:0004992	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0004992	"An acute or chronic inflammatory process affecting the middle ear." []	208130	\N	\N	EFO	1	EFO	head disease	Otitis media
EFO:1001455	EFO:0004992	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:0004992	"An acute or chronic inflammatory process affecting the middle ear." []	208131	\N	\N	EFO	1	EFO	auditory system disease	Otitis media
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004992	"An acute or chronic inflammatory process affecting the middle ear." []	561288	\N	\N	EFO	2	EFO	disease	Otitis media
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0004992	"An acute or chronic inflammatory process affecting the middle ear." []	561289	\N	\N	EFO	2	EFO	sensory system disease	Otitis media
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004992	"An acute or chronic inflammatory process affecting the middle ear." []	3178274	\N	\N	EFO	5	EFO	disposition	Otitis media
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0004992	"An acute or chronic inflammatory process affecting the middle ear." []	1143043	\N	\N	EFO	3	EFO	nervous system disease	Otitis media
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004992	"An acute or chronic inflammatory process affecting the middle ear." []	4066715	\N	\N	EFO	6	EFO	material property	Otitis media
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004992	"An acute or chronic inflammatory process affecting the middle ear." []	2025772	\N	\N	EFO	4	EFO	disease	Otitis media
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004992	"An acute or chronic inflammatory process affecting the middle ear." []	5059352	\N	\N	EFO	7	EFO	experimental factor	Otitis media
EFO:0004993	\N	\N	"Is a quantification of immunoglobulin M, an antibody produced by B cells. IgM measurements are useful for detecting or monitoring of monoclonal gammopathies and immune deficiencies." []	EFO:0004993	"Is a quantification of immunoglobulin M, an antibody produced by B cells. IgM measurements are useful for detecting or monitoring of monoclonal gammopathies and immune deficiencies." []	66790	\N	\N	EFO	0	EFO	serum IgM measurement	serum IgM measurement
EFO:0001444	EFO:0004993	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004993	"Is a quantification of immunoglobulin M, an antibody produced by B cells. IgM measurements are useful for detecting or monitoring of monoclonal gammopathies and immune deficiencies." []	208132	\N	\N	EFO	1	EFO	measurement	serum IgM measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004993	"Is a quantification of immunoglobulin M, an antibody produced by B cells. IgM measurements are useful for detecting or monitoring of monoclonal gammopathies and immune deficiencies." []	561290	\N	\N	EFO	2	EFO	information entity	serum IgM measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004993	"Is a quantification of immunoglobulin M, an antibody produced by B cells. IgM measurements are useful for detecting or monitoring of monoclonal gammopathies and immune deficiencies." []	1143044	\N	\N	EFO	3	EFO	experimental factor	serum IgM measurement
EFO:0004994	\N	\N	"lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine." []	EFO:0004994	"lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine." []	66791	\N	\N	EFO	0	EFO	lumbar disc degeneration	lumbar disc degeneration
EFO:0002461	EFO:0004994	\N	"Any disease which affects part of the skeletal system." []	EFO:0004994	"lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine." []	208133	\N	\N	EFO	1	EFO	skeletal system disease	lumbar disc degeneration
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004994	"lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine." []	561291	\N	\N	EFO	2	EFO	disease	lumbar disc degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004994	"lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine." []	1143045	\N	\N	EFO	3	EFO	disposition	lumbar disc degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004994	"lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine." []	2025773	\N	\N	EFO	4	EFO	material property	lumbar disc degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004994	"lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine." []	3178275	\N	\N	EFO	5	EFO	experimental factor	lumbar disc degeneration
EFO:0004995	\N	\N	"The weight of all organs and tissue in an individual less the weight of the individual's body fat." []	EFO:0004995	"The weight of all organs and tissue in an individual less the weight of the individual's body fat." []	66792	\N	\N	EFO	0	EFO	lean body mass	lean body mass
EFO:0004302	EFO:0004995	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0004995	"The weight of all organs and tissue in an individual less the weight of the individual's body fat." []	208134	\N	\N	EFO	1	EFO	anthropometric measurement	lean body mass
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004995	"The weight of all organs and tissue in an individual less the weight of the individual's body fat." []	561292	\N	\N	EFO	2	EFO	measurement	lean body mass
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004995	"The weight of all organs and tissue in an individual less the weight of the individual's body fat." []	1143046	\N	\N	EFO	3	EFO	information entity	lean body mass
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004995	"The weight of all organs and tissue in an individual less the weight of the individual's body fat." []	2025774	\N	\N	EFO	4	EFO	experimental factor	lean body mass
EFO:0004996	\N	\N	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy." []	EFO:0004996	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy." []	66793	\N	\N	EFO	0	EFO	type 1 diabetes nephropathy	type 1 diabetes nephropathy
EFO:0000401	EFO:0004996	\N	"Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." []	EFO:0004996	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy." []	208135	\N	\N	EFO	1	EFO	diabetic nephropathy	type 1 diabetes nephropathy
EFO:0000589	EFO:0000401	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0004996	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy." []	561293	\N	\N	EFO	2	EFO	metabolic disease	type 1 diabetes nephropathy
EFO:0003086	EFO:0000401	\N	"A disease affecting the kidneys" []	EFO:0004996	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy." []	561294	\N	\N	EFO	2	EFO	kidney disease	type 1 diabetes nephropathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004996	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy." []	1143047	\N	\N	EFO	3	EFO	disease	type 1 diabetes nephropathy
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004996	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy." []	1143048	\N	\N	EFO	3	EFO	disease	type 1 diabetes nephropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004996	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy." []	2025775	\N	\N	EFO	4	EFO	disposition	type 1 diabetes nephropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004996	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy." []	3178276	\N	\N	EFO	5	EFO	material property	type 1 diabetes nephropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004996	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy." []	4388147	\N	\N	EFO	6	EFO	experimental factor	type 1 diabetes nephropathy
EFO:0004997	\N	\N	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long?term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking." []	EFO:0004997	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long?term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking." []	66794	\N	\N	EFO	0	EFO	type 2 diabetes nephropathy	type 2 diabetes nephropathy
EFO:0000401	EFO:0004997	\N	"Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." []	EFO:0004997	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long?term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking." []	208136	\N	\N	EFO	1	EFO	diabetic nephropathy	type 2 diabetes nephropathy
EFO:0000589	EFO:0000401	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0004997	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long?term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking." []	561295	\N	\N	EFO	2	EFO	metabolic disease	type 2 diabetes nephropathy
EFO:0003086	EFO:0000401	\N	"A disease affecting the kidneys" []	EFO:0004997	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long?term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking." []	561296	\N	\N	EFO	2	EFO	kidney disease	type 2 diabetes nephropathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004997	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long?term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking." []	1143049	\N	\N	EFO	3	EFO	disease	type 2 diabetes nephropathy
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0004997	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long?term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking." []	1143050	\N	\N	EFO	3	EFO	disease	type 2 diabetes nephropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0004997	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long?term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking." []	2025776	\N	\N	EFO	4	EFO	disposition	type 2 diabetes nephropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0004997	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long?term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking." []	3178277	\N	\N	EFO	5	EFO	material property	type 2 diabetes nephropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004997	"Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long?term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking." []	4388148	\N	\N	EFO	6	EFO	experimental factor	type 2 diabetes nephropathy
EFO:0004998	\N	\N	"The quantification of some carbohydrate, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	EFO:0004998	"The quantification of some carbohydrate, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	66795	\N	\N	EFO	0	EFO	carbohydrate measurement	carbohydrate measurement
EFO:0001444	EFO:0004998	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004998	"The quantification of some carbohydrate, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	208137	\N	\N	EFO	1	EFO	measurement	carbohydrate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004998	"The quantification of some carbohydrate, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	561297	\N	\N	EFO	2	EFO	information entity	carbohydrate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004998	"The quantification of some carbohydrate, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	1143051	\N	\N	EFO	3	EFO	experimental factor	carbohydrate measurement
EFO:0004999	\N	\N	"The quantification of N-glycans in a plasma sample." []	EFO:0004999	"The quantification of N-glycans in a plasma sample." []	66796	\N	\N	EFO	0	EFO	N-glycan measurement	N-glycan measurement
EFO:0004998	EFO:0004999	\N	"The quantification of some carbohydrate, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	EFO:0004999	"The quantification of N-glycans in a plasma sample." []	208138	\N	\N	EFO	1	EFO	carbohydrate measurement	N-glycan measurement
EFO:0001444	EFO:0004998	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0004999	"The quantification of N-glycans in a plasma sample." []	561298	\N	\N	EFO	2	EFO	measurement	N-glycan measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0004999	"The quantification of N-glycans in a plasma sample." []	1143052	\N	\N	EFO	3	EFO	information entity	N-glycan measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0004999	"The quantification of N-glycans in a plasma sample." []	2025777	\N	\N	EFO	4	EFO	experimental factor	N-glycan measurement
EFO:0005000	\N	\N	"Quantification of leptin, a hormone made by adipocytes with a role in the regulation of energy balance. " []	EFO:0005000	"Quantification of leptin, a hormone made by adipocytes with a role in the regulation of energy balance. " []	66797	\N	\N	EFO	0	EFO	leptin measurement	leptin measurement
EFO:0004730	EFO:0005000	\N	"" []	EFO:0005000	"Quantification of leptin, a hormone made by adipocytes with a role in the regulation of energy balance. " []	208139	\N	\N	EFO	1	EFO	hormone measurement	leptin measurement
EFO:0004747	EFO:0005000	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005000	"Quantification of leptin, a hormone made by adipocytes with a role in the regulation of energy balance. " []	208140	\N	\N	EFO	1	EFO	protein measurement	leptin measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005000	"Quantification of leptin, a hormone made by adipocytes with a role in the regulation of energy balance. " []	561299	\N	\N	EFO	2	EFO	measurement	leptin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005000	"Quantification of leptin, a hormone made by adipocytes with a role in the regulation of energy balance. " []	561300	\N	\N	EFO	2	EFO	measurement	leptin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005000	"Quantification of leptin, a hormone made by adipocytes with a role in the regulation of energy balance. " []	1143053	\N	\N	EFO	3	EFO	information entity	leptin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005000	"Quantification of leptin, a hormone made by adipocytes with a role in the regulation of energy balance. " []	2025778	\N	\N	EFO	4	EFO	experimental factor	leptin measurement
EFO:0005001	\N	\N	"The quantification of some phenylalanine, typically obtained from an individual with the intention of using the measurement in some diagnostic process. For example in the diagnosis of phenylkenonuria (PKU)" []	EFO:0005001	"The quantification of some phenylalanine, typically obtained from an individual with the intention of using the measurement in some diagnostic process. For example in the diagnosis of phenylkenonuria (PKU)" []	66798	\N	\N	EFO	0	EFO	phenylalanine measurement	phenylalanine measurement
EFO:0005134	EFO:0005001	\N	"quantification of some amino acid in a biological assay" []	EFO:0005001	"The quantification of some phenylalanine, typically obtained from an individual with the intention of using the measurement in some diagnostic process. For example in the diagnosis of phenylkenonuria (PKU)" []	208141	\N	\N	EFO	1	EFO	amino acid measurement	phenylalanine measurement
EFO:0001444	EFO:0005134	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005001	"The quantification of some phenylalanine, typically obtained from an individual with the intention of using the measurement in some diagnostic process. For example in the diagnosis of phenylkenonuria (PKU)" []	561301	\N	\N	EFO	2	EFO	measurement	phenylalanine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005001	"The quantification of some phenylalanine, typically obtained from an individual with the intention of using the measurement in some diagnostic process. For example in the diagnosis of phenylkenonuria (PKU)" []	1143054	\N	\N	EFO	3	EFO	information entity	phenylalanine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005001	"The quantification of some phenylalanine, typically obtained from an individual with the intention of using the measurement in some diagnostic process. For example in the diagnosis of phenylkenonuria (PKU)" []	2025779	\N	\N	EFO	4	EFO	experimental factor	phenylalanine measurement
EFO:0005002	\N	\N	"The quantification of some lysine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	EFO:0005002	"The quantification of some lysine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	66799	\N	\N	EFO	0	EFO	lysine measurement	lysine measurement
EFO:0005134	EFO:0005002	\N	"quantification of some amino acid in a biological assay" []	EFO:0005002	"The quantification of some lysine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	208142	\N	\N	EFO	1	EFO	amino acid measurement	lysine measurement
EFO:0001444	EFO:0005134	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005002	"The quantification of some lysine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	561302	\N	\N	EFO	2	EFO	measurement	lysine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005002	"The quantification of some lysine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	1143055	\N	\N	EFO	3	EFO	information entity	lysine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005002	"The quantification of some lysine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	2025780	\N	\N	EFO	4	EFO	experimental factor	lysine measurement
EFO:0005016	\N	\N	"454 sequencing is a DNA sequencing using 454 technology from Roche,  which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." []	EFO:0005016	"454 sequencing is a DNA sequencing using 454 technology from Roche,  which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." []	66800	\N	\N	EFO	0	EFO	454 Sequencing	454 Sequencing
EFO:0001456	EFO:0005016	\N	"An assay with input DNA" []	EFO:0005016	"454 sequencing is a DNA sequencing using 454 technology from Roche,  which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." []	208143	\N	\N	EFO	1	EFO	DNA assay	454 Sequencing
EFO:0003740	EFO:0005016	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0005016	"454 sequencing is a DNA sequencing using 454 technology from Roche,  which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." []	208144	\N	\N	EFO	1	EFO	assay by sequencer	454 Sequencing
EFO:0002772	EFO:0001456	\N	"" []	EFO:0005016	"454 sequencing is a DNA sequencing using 454 technology from Roche,  which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." []	561303	\N	\N	EFO	2	EFO	assay by molecule	454 Sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0005016	"454 sequencing is a DNA sequencing using 454 technology from Roche,  which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." []	561304	\N	\N	EFO	2	EFO	assay by instrument	454 Sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005016	"454 sequencing is a DNA sequencing using 454 technology from Roche,  which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." []	1143056	\N	\N	EFO	3	EFO	assay	454 Sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005016	"454 sequencing is a DNA sequencing using 454 technology from Roche,  which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." []	1143057	\N	\N	EFO	3	EFO	assay	454 Sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005016	"454 sequencing is a DNA sequencing using 454 technology from Roche,  which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." []	2025781	\N	\N	EFO	4	EFO	experimental process	454 Sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005016	"454 sequencing is a DNA sequencing using 454 technology from Roche,  which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." []	3178278	\N	\N	EFO	5	EFO	planned process	454 Sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005016	"454 sequencing is a DNA sequencing using 454 technology from Roche,  which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." []	4388149	\N	\N	EFO	6	EFO	process	454 Sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005016	"454 sequencing is a DNA sequencing using 454 technology from Roche,  which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin." []	5408777	\N	\N	EFO	7	EFO	experimental factor	454 Sequencing
EFO:0005017	\N	\N	"A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3 end are purified." []	EFO:0005017	"A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3 end are purified." []	66801	\N	\N	EFO	0	EFO	non polyA RNA	non polyA RNA
CHEBI:33697	EFO:0005017	\N	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	EFO:0005017	"A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3 end are purified." []	208145	\N	\N	EFO	1	EFO	RNA	non polyA RNA
CHEBI:37577	CHEBI:33697	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0005017	"A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3 end are purified." []	561305	\N	\N	EFO	2	EFO	chemical compound	non polyA RNA
EFO:0004446	CHEBI:33697	\N	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	EFO:0005017	"A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3 end are purified." []	561306	\N	\N	EFO	2	EFO	biological macromolecule	non polyA RNA
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0005017	"A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3 end are purified." []	1143058	\N	\N	EFO	3	EFO	chemical entity	non polyA RNA
BFO:0000040	EFO:0004446	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005017	"A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3 end are purified." []	1143059	\N	\N	EFO	3	EFO	material entity	non polyA RNA
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005017	"A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3 end are purified." []	2025782	\N	\N	EFO	4	EFO	material entity	non polyA RNA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005017	"A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3 end are purified." []	3178279	\N	\N	EFO	5	EFO	experimental factor	non polyA RNA
EFO:0005018	\N	\N	"A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	EFO:0005018	"A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	66802	\N	\N	EFO	0	EFO	long non poly RNA	long non poly RNA
EFO:0005017	EFO:0005018	\N	"A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3 end are purified." []	EFO:0005018	"A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	208146	\N	\N	EFO	1	EFO	non polyA RNA	long non poly RNA
CHEBI:33697	EFO:0005017	\N	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	EFO:0005018	"A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	561307	\N	\N	EFO	2	EFO	RNA	long non poly RNA
CHEBI:37577	CHEBI:33697	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0005018	"A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	1143060	\N	\N	EFO	3	EFO	chemical compound	long non poly RNA
EFO:0004446	CHEBI:33697	\N	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	EFO:0005018	"A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	1143061	\N	\N	EFO	3	EFO	biological macromolecule	long non poly RNA
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0005018	"A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	2025784	\N	\N	EFO	4	EFO	chemical entity	long non poly RNA
BFO:0000040	EFO:0004446	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005018	"A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	2025785	\N	\N	EFO	4	EFO	material entity	long non poly RNA
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005018	"A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	3178280	\N	\N	EFO	5	EFO	material entity	long non poly RNA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005018	"A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	4388150	\N	\N	EFO	6	EFO	experimental factor	long non poly RNA
EFO:0005019	\N	\N	"A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	EFO:0005019	"A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	66803	\N	\N	EFO	0	EFO	long poly A RNA	long poly A RNA
OBI:0000869	EFO:0005019	\N	"A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3 end are purified." []	EFO:0005019	"A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	208147	\N	\N	EFO	1	EFO	polyA RNA	long poly A RNA
CHEBI:33697	OBI:0000869	\N	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	EFO:0005019	"A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	561308	\N	\N	EFO	2	EFO	RNA	long poly A RNA
CHEBI:37577	CHEBI:33697	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0005019	"A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	1143062	\N	\N	EFO	3	EFO	chemical compound	long poly A RNA
EFO:0004446	CHEBI:33697	\N	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	EFO:0005019	"A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	1143063	\N	\N	EFO	3	EFO	biological macromolecule	long poly A RNA
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0005019	"A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	2025786	\N	\N	EFO	4	EFO	chemical entity	long poly A RNA
BFO:0000040	EFO:0004446	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005019	"A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	2025787	\N	\N	EFO	4	EFO	material entity	long poly A RNA
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005019	"A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	3178282	\N	\N	EFO	5	EFO	material entity	long poly A RNA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005019	"A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16)" []	4388151	\N	\N	EFO	6	EFO	experimental factor	long poly A RNA
EFO:0005020	\N	\N	"The latitude at which a sample was obtained. For example a sea water sample." []	EFO:0005020	"The latitude at which a sample was obtained. For example a sea water sample." []	66804	\N	\N	EFO	0	EFO	collection latitude	collection latitude
OBI:0001620	EFO:0005020	\N	"A measurement that is the measure of the latitude coordinate of a site." []	EFO:0005020	"The latitude at which a sample was obtained. For example a sea water sample." []	208148	\N	\N	EFO	1	EFO	latitude	collection latitude
EFO:0001444	OBI:0001620	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005020	"The latitude at which a sample was obtained. For example a sea water sample." []	561309	\N	\N	EFO	2	EFO	measurement	collection latitude
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005020	"The latitude at which a sample was obtained. For example a sea water sample." []	1143064	\N	\N	EFO	3	EFO	information entity	collection latitude
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005020	"The latitude at which a sample was obtained. For example a sea water sample." []	2025788	\N	\N	EFO	4	EFO	experimental factor	collection latitude
EFO:0005021	\N	\N	"The longitude at which a sample was obtained. For example a sea water sample." []	EFO:0005021	"The longitude at which a sample was obtained. For example a sea water sample." []	66805	\N	\N	EFO	0	EFO	collection longitude	collection longitude
OBI:0001621	EFO:0005021	\N	"A measurement that is the measure of the longitude coordinate of a site." []	EFO:0005021	"The longitude at which a sample was obtained. For example a sea water sample." []	208149	\N	\N	EFO	1	EFO	longitude	collection longitude
EFO:0001444	OBI:0001621	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005021	"The longitude at which a sample was obtained. For example a sea water sample." []	561310	\N	\N	EFO	2	EFO	measurement	collection longitude
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005021	"The longitude at which a sample was obtained. For example a sea water sample." []	1143065	\N	\N	EFO	3	EFO	information entity	collection longitude
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005021	"The longitude at which a sample was obtained. For example a sea water sample." []	2025789	\N	\N	EFO	4	EFO	experimental factor	collection longitude
EFO:0005023	\N	\N	"A adult mesenchymal stem cell derived from adipose tisssue" []	EFO:0005023	"A adult mesenchymal stem cell derived from adipose tisssue" []	66806	\N	\N	EFO	0	EFO	adipose tissue derived mesenchymal stem cell	adipose tissue derived mesenchymal stem cell
EFO:0000586	EFO:0005023	\N	"" []	EFO:0005023	"A adult mesenchymal stem cell derived from adipose tisssue" []	208150	\N	\N	EFO	1	EFO	mesenchymal stem cell	adipose tissue derived mesenchymal stem cell
CL:0000034	EFO:0000586	\N	"A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." []	EFO:0005023	"A adult mesenchymal stem cell derived from adipose tisssue" []	561311	\N	\N	EFO	2	EFO	stem cell	adipose tissue derived mesenchymal stem cell
EFO:0000324	CL:0000034	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0005023	"A adult mesenchymal stem cell derived from adipose tisssue" []	1143066	\N	\N	EFO	3	EFO	cell type	adipose tissue derived mesenchymal stem cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005023	"A adult mesenchymal stem cell derived from adipose tisssue" []	2025790	\N	\N	EFO	4	EFO	material entity	adipose tissue derived mesenchymal stem cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005023	"A adult mesenchymal stem cell derived from adipose tisssue" []	3178284	\N	\N	EFO	5	EFO	experimental factor	adipose tissue derived mesenchymal stem cell
EFO:0005024	\N	\N	"A pericyte derived from the placenta." []	EFO:0005024	"A pericyte derived from the placenta." []	66807	\N	\N	EFO	0	EFO	placental pericyte	placental pericyte
CL:0000669	EFO:0005024	\N	"An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells." []	EFO:0005024	"A pericyte derived from the placenta." []	208151	\N	\N	EFO	1	EFO	pericyte	placental pericyte
CL:0000988	CL:0000669	\N	"A cell of a hematopoietic lineage." []	EFO:0005024	"A pericyte derived from the placenta." []	561312	\N	\N	EFO	2	EFO	hematopoietic cell	placental pericyte
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0005024	"A pericyte derived from the placenta." []	1143067	\N	\N	EFO	3	EFO	cell type	placental pericyte
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005024	"A pericyte derived from the placenta." []	2025791	\N	\N	EFO	4	EFO	material entity	placental pericyte
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005024	"A pericyte derived from the placenta." []	3178285	\N	\N	EFO	5	EFO	experimental factor	placental pericyte
EFO:0005027	\N	\N	"Anti-Bcl11a Antibody is used as B-cell lymphoma/leukemia 11A antibody\\nSpecies: Human, Vertebrates\\nGene: BCL11A ENSG00000119866" []	EFO:0005027	"Anti-Bcl11a Antibody is used as B-cell lymphoma/leukemia 11A antibody\\nSpecies: Human, Vertebrates\\nGene: BCL11A ENSG00000119866" []	66808	\N	\N	EFO	0	EFO	anti-Bcl11a	anti-Bcl11a
EFO:0000541	EFO:0005027	\N	"The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." []	EFO:0005027	"Anti-Bcl11a Antibody is used as B-cell lymphoma/leukemia 11A antibody\\nSpecies: Human, Vertebrates\\nGene: BCL11A ENSG00000119866" []	208152	\N	\N	EFO	1	EFO	immunoprecipitate	anti-Bcl11a
CHEBI:37577	EFO:0000541	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0005027	"Anti-Bcl11a Antibody is used as B-cell lymphoma/leukemia 11A antibody\\nSpecies: Human, Vertebrates\\nGene: BCL11A ENSG00000119866" []	561313	\N	\N	EFO	2	EFO	chemical compound	anti-Bcl11a
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0005027	"Anti-Bcl11a Antibody is used as B-cell lymphoma/leukemia 11A antibody\\nSpecies: Human, Vertebrates\\nGene: BCL11A ENSG00000119866" []	1143068	\N	\N	EFO	3	EFO	chemical entity	anti-Bcl11a
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005027	"Anti-Bcl11a Antibody is used as B-cell lymphoma/leukemia 11A antibody\\nSpecies: Human, Vertebrates\\nGene: BCL11A ENSG00000119866" []	2025792	\N	\N	EFO	4	EFO	material entity	anti-Bcl11a
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005027	"Anti-Bcl11a Antibody is used as B-cell lymphoma/leukemia 11A antibody\\nSpecies: Human, Vertebrates\\nGene: BCL11A ENSG00000119866" []	3178286	\N	\N	EFO	5	EFO	experimental factor	anti-Bcl11a
EFO:0005028	\N	\N	"Anti-trimethyl-Histone H3 (Lys27) Antibody\\nSpecies: Human, Mouse\\nGene: HIST3H3 ENSG00000168148" []	EFO:0005028	"Anti-trimethyl-Histone H3 (Lys27) Antibody\\nSpecies: Human, Mouse\\nGene: HIST3H3 ENSG00000168148" []	66809	\N	\N	EFO	0	EFO	anti-H3K27-3Me	anti-H3K27-3Me
EFO:0000541	EFO:0005028	\N	"The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." []	EFO:0005028	"Anti-trimethyl-Histone H3 (Lys27) Antibody\\nSpecies: Human, Mouse\\nGene: HIST3H3 ENSG00000168148" []	208153	\N	\N	EFO	1	EFO	immunoprecipitate	anti-H3K27-3Me
CHEBI:37577	EFO:0000541	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0005028	"Anti-trimethyl-Histone H3 (Lys27) Antibody\\nSpecies: Human, Mouse\\nGene: HIST3H3 ENSG00000168148" []	561314	\N	\N	EFO	2	EFO	chemical compound	anti-H3K27-3Me
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0005028	"Anti-trimethyl-Histone H3 (Lys27) Antibody\\nSpecies: Human, Mouse\\nGene: HIST3H3 ENSG00000168148" []	1143069	\N	\N	EFO	3	EFO	chemical entity	anti-H3K27-3Me
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005028	"Anti-trimethyl-Histone H3 (Lys27) Antibody\\nSpecies: Human, Mouse\\nGene: HIST3H3 ENSG00000168148" []	2025793	\N	\N	EFO	4	EFO	material entity	anti-H3K27-3Me
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005028	"Anti-trimethyl-Histone H3 (Lys27) Antibody\\nSpecies: Human, Mouse\\nGene: HIST3H3 ENSG00000168148" []	3178287	\N	\N	EFO	5	EFO	experimental factor	anti-H3K27-3Me
EFO:0005029	\N	\N	"Anti-trimethyl-Histone H3 (Lys4) Antibody\\nSpecies: Human, Vertebrates\\nGene: HIST3H3 ENSG00000168148" []	EFO:0005029	"Anti-trimethyl-Histone H3 (Lys4) Antibody\\nSpecies: Human, Vertebrates\\nGene: HIST3H3 ENSG00000168148" []	66810	\N	\N	EFO	0	EFO	anti-H3k4-3Me	anti-H3k4-3Me
EFO:0000541	EFO:0005029	\N	"The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." []	EFO:0005029	"Anti-trimethyl-Histone H3 (Lys4) Antibody\\nSpecies: Human, Vertebrates\\nGene: HIST3H3 ENSG00000168148" []	208154	\N	\N	EFO	1	EFO	immunoprecipitate	anti-H3k4-3Me
CHEBI:37577	EFO:0000541	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0005029	"Anti-trimethyl-Histone H3 (Lys4) Antibody\\nSpecies: Human, Vertebrates\\nGene: HIST3H3 ENSG00000168148" []	561315	\N	\N	EFO	2	EFO	chemical compound	anti-H3k4-3Me
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0005029	"Anti-trimethyl-Histone H3 (Lys4) Antibody\\nSpecies: Human, Vertebrates\\nGene: HIST3H3 ENSG00000168148" []	1143070	\N	\N	EFO	3	EFO	chemical entity	anti-H3k4-3Me
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005029	"Anti-trimethyl-Histone H3 (Lys4) Antibody\\nSpecies: Human, Vertebrates\\nGene: HIST3H3 ENSG00000168148" []	2025794	\N	\N	EFO	4	EFO	material entity	anti-H3k4-3Me
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005029	"Anti-trimethyl-Histone H3 (Lys4) Antibody\\nSpecies: Human, Vertebrates\\nGene: HIST3H3 ENSG00000168148" []	3178288	\N	\N	EFO	5	EFO	experimental factor	anti-H3k4-3Me
EFO:0005030	\N	\N	"Anti-IgG Antibody. Immunoglobulin G antibodies are available in different forms on the market. General features: activate mammalian complements, bind to protein A or protein G." []	EFO:0005030	"Anti-IgG Antibody. Immunoglobulin G antibodies are available in different forms on the market. General features: activate mammalian complements, bind to protein A or protein G." []	66811	\N	\N	EFO	0	EFO	anti-IgG	anti-IgG
EFO:0000541	EFO:0005030	\N	"The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." []	EFO:0005030	"Anti-IgG Antibody. Immunoglobulin G antibodies are available in different forms on the market. General features: activate mammalian complements, bind to protein A or protein G." []	208155	\N	\N	EFO	1	EFO	immunoprecipitate	anti-IgG
CHEBI:37577	EFO:0000541	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0005030	"Anti-IgG Antibody. Immunoglobulin G antibodies are available in different forms on the market. General features: activate mammalian complements, bind to protein A or protein G." []	561316	\N	\N	EFO	2	EFO	chemical compound	anti-IgG
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0005030	"Anti-IgG Antibody. Immunoglobulin G antibodies are available in different forms on the market. General features: activate mammalian complements, bind to protein A or protein G." []	1143071	\N	\N	EFO	3	EFO	chemical entity	anti-IgG
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005030	"Anti-IgG Antibody. Immunoglobulin G antibodies are available in different forms on the market. General features: activate mammalian complements, bind to protein A or protein G." []	2025795	\N	\N	EFO	4	EFO	material entity	anti-IgG
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005030	"Anti-IgG Antibody. Immunoglobulin G antibodies are available in different forms on the market. General features: activate mammalian complements, bind to protein A or protein G." []	3178289	\N	\N	EFO	5	EFO	experimental factor	anti-IgG
EFO:0005031	\N	\N	"Label for the immunoprecipitate when control assays are used for ChIP-seq experiments.  Means that non-ChIP genomic DNA has been used to identify and adjust for sequencing biases." []	EFO:0005031	"Label for the immunoprecipitate when control assays are used for ChIP-seq experiments.  Means that non-ChIP genomic DNA has been used to identify and adjust for sequencing biases." []	66812	\N	\N	EFO	0	EFO	input DNA	input DNA
EFO:0000541	EFO:0005031	\N	"The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." []	EFO:0005031	"Label for the immunoprecipitate when control assays are used for ChIP-seq experiments.  Means that non-ChIP genomic DNA has been used to identify and adjust for sequencing biases." []	208156	\N	\N	EFO	1	EFO	immunoprecipitate	input DNA
CHEBI:37577	EFO:0000541	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0005031	"Label for the immunoprecipitate when control assays are used for ChIP-seq experiments.  Means that non-ChIP genomic DNA has been used to identify and adjust for sequencing biases." []	561317	\N	\N	EFO	2	EFO	chemical compound	input DNA
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0005031	"Label for the immunoprecipitate when control assays are used for ChIP-seq experiments.  Means that non-ChIP genomic DNA has been used to identify and adjust for sequencing biases." []	1143072	\N	\N	EFO	3	EFO	chemical entity	input DNA
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005031	"Label for the immunoprecipitate when control assays are used for ChIP-seq experiments.  Means that non-ChIP genomic DNA has been used to identify and adjust for sequencing biases." []	2025796	\N	\N	EFO	4	EFO	material entity	input DNA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005031	"Label for the immunoprecipitate when control assays are used for ChIP-seq experiments.  Means that non-ChIP genomic DNA has been used to identify and adjust for sequencing biases." []	3178290	\N	\N	EFO	5	EFO	experimental factor	input DNA
EFO:0005032	\N	\N	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	EFO:0005032	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	66813	\N	\N	EFO	0	EFO	IP-seq	IP-seq
EFO:0002697	EFO:0005032	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0005032	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	208157	\N	\N	EFO	1	EFO	assay by high throughput sequencer	IP-seq
EFO:0004120	EFO:0005032	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0005032	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	208158	\N	\N	EFO	1	EFO	ArrayExpress experiment type	IP-seq
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0005032	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	561318	\N	\N	EFO	2	EFO	assay by sequencer	IP-seq
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005032	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	561319	\N	\N	EFO	2	EFO	experimental process	IP-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0005032	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	1143073	\N	\N	EFO	3	EFO	assay by instrument	IP-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005032	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	4388152	\N	\N	EFO	6	EFO	planned process	IP-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005032	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	2025797	\N	\N	EFO	4	EFO	assay	IP-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005032	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	5028337	\N	\N	EFO	7	EFO	process	IP-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005032	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	3178291	\N	\N	EFO	5	EFO	experimental process	IP-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005032	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	5817367	\N	\N	EFO	8	EFO	experimental factor	IP-seq
EFO:0005033	\N	\N	"RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest.\\nBy isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR." []	EFO:0005033	"RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest.\\nBy isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR." []	66814	\N	\N	EFO	0	EFO	RIP	RIP
EFO:0002694	EFO:0005033	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005033	"RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest.\\nBy isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR." []	208159	\N	\N	EFO	1	EFO	experimental process	RIP
EFO:0004184	EFO:0005033	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	EFO:0005033	"RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest.\\nBy isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR." []	208160	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	RIP
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005033	"RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest.\\nBy isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR." []	561320	\N	\N	EFO	2	EFO	planned process	RIP
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005033	"RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest.\\nBy isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR." []	561321	\N	\N	EFO	2	EFO	protocol	RIP
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005033	"RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest.\\nBy isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR." []	1143075	\N	\N	EFO	3	EFO	process	RIP
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005033	"RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest.\\nBy isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR." []	1143076	\N	\N	EFO	3	EFO	information entity	RIP
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005033	"RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest.\\nBy isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR." []	2025799	\N	\N	EFO	4	EFO	experimental factor	RIP
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005033	"RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest.\\nBy isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR." []	2025800	\N	\N	EFO	4	EFO	experimental factor	RIP
EFO:0005034	\N	\N	"Anti-CTCF antibody\\nSpecies: Human, Mouse, Rat, Primate, Canine (depends on vendor)\\nGene: CTCF ENSG00000102974" []	EFO:0005034	"Anti-CTCF antibody\\nSpecies: Human, Mouse, Rat, Primate, Canine (depends on vendor)\\nGene: CTCF ENSG00000102974" []	66815	\N	\N	EFO	0	EFO	anti-CTCF	anti-CTCF
EFO:0000541	EFO:0005034	\N	"The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation." []	EFO:0005034	"Anti-CTCF antibody\\nSpecies: Human, Mouse, Rat, Primate, Canine (depends on vendor)\\nGene: CTCF ENSG00000102974" []	208161	\N	\N	EFO	1	EFO	immunoprecipitate	anti-CTCF
CHEBI:37577	EFO:0000541	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0005034	"Anti-CTCF antibody\\nSpecies: Human, Mouse, Rat, Primate, Canine (depends on vendor)\\nGene: CTCF ENSG00000102974" []	561322	\N	\N	EFO	2	EFO	chemical compound	anti-CTCF
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0005034	"Anti-CTCF antibody\\nSpecies: Human, Mouse, Rat, Primate, Canine (depends on vendor)\\nGene: CTCF ENSG00000102974" []	1143077	\N	\N	EFO	3	EFO	chemical entity	anti-CTCF
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005034	"Anti-CTCF antibody\\nSpecies: Human, Mouse, Rat, Primate, Canine (depends on vendor)\\nGene: CTCF ENSG00000102974" []	2025801	\N	\N	EFO	4	EFO	material entity	anti-CTCF
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005034	"Anti-CTCF antibody\\nSpecies: Human, Mouse, Rat, Primate, Canine (depends on vendor)\\nGene: CTCF ENSG00000102974" []	3178293	\N	\N	EFO	5	EFO	experimental factor	anti-CTCF
EFO:0005035	\N	\N	"Measurement of the volume of the hippocampus" []	EFO:0005035	"Measurement of the volume of the hippocampus" []	66816	\N	\N	EFO	0	EFO	hippocampal volume	hippocampal volume
EFO:0006848	EFO:0005035	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0005035	"Measurement of the volume of the hippocampus" []	208162	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	hippocampal volume
EFO:0006930	EFO:0005035	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0005035	"Measurement of the volume of the hippocampus" []	208163	\N	\N	EFO	1	EFO	brain volume measurement	hippocampal volume
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005035	"Measurement of the volume of the hippocampus" []	561323	\N	\N	EFO	2	EFO	measurement	hippocampal volume
EFO:0004464	EFO:0006930	\N	"" []	EFO:0005035	"Measurement of the volume of the hippocampus" []	561324	\N	\N	EFO	2	EFO	brain measurement	hippocampal volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005035	"Measurement of the volume of the hippocampus" []	2025803	\N	\N	EFO	4	EFO	information entity	hippocampal volume
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005035	"Measurement of the volume of the hippocampus" []	1143079	\N	\N	EFO	3	EFO	measurement	hippocampal volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005035	"Measurement of the volume of the hippocampus" []	2999613	\N	\N	EFO	5	EFO	experimental factor	hippocampal volume
EFO:0005036	\N	\N	"A measurement quantifying some platelet" []	EFO:0005036	"A measurement quantifying some platelet" []	66817	\N	\N	EFO	0	EFO	platelet measurement	platelet measurement
EFO:0004503	EFO:0005036	\N	"A measurement quantifying some blood cell, or component." []	EFO:0005036	"A measurement quantifying some platelet" []	208164	\N	\N	EFO	1	EFO	hematological measurement	platelet measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005036	"A measurement quantifying some platelet" []	561325	\N	\N	EFO	2	EFO	measurement	platelet measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005036	"A measurement quantifying some platelet" []	1143080	\N	\N	EFO	3	EFO	information entity	platelet measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005036	"A measurement quantifying some platelet" []	2025804	\N	\N	EFO	4	EFO	experimental factor	platelet measurement
EFO:0005037	\N	\N	"The aortic root size is the size of the part of the ascending aorta beginning at the aortic annulus and extending to the sinotubular junction" []	EFO:0005037	"The aortic root size is the size of the part of the ascending aorta beginning at the aortic annulus and extending to the sinotubular junction" []	66818	\N	\N	EFO	0	EFO	aortic root size	aortic root size
EFO:0005278	EFO:0005037	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005037	"The aortic root size is the size of the part of the ascending aorta beginning at the aortic annulus and extending to the sinotubular junction" []	208165	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	aortic root size
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005037	"The aortic root size is the size of the part of the ascending aorta beginning at the aortic annulus and extending to the sinotubular junction" []	561326	\N	\N	EFO	2	EFO	cardiovascular measurement	aortic root size
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005037	"The aortic root size is the size of the part of the ascending aorta beginning at the aortic annulus and extending to the sinotubular junction" []	1143081	\N	\N	EFO	3	EFO	measurement	aortic root size
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005037	"The aortic root size is the size of the part of the ascending aorta beginning at the aortic annulus and extending to the sinotubular junction" []	2025805	\N	\N	EFO	4	EFO	information entity	aortic root size
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005037	"The aortic root size is the size of the part of the ascending aorta beginning at the aortic annulus and extending to the sinotubular junction" []	3178294	\N	\N	EFO	5	EFO	experimental factor	aortic root size
EFO:0005038	\N	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0005038	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	66819	\N	\N	EFO	0	EFO	hair morphology	hair morphology
EFO:0000651	EFO:0005038	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0005038	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	208166	\N	\N	EFO	1	EFO	phenotype	hair morphology
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0005038	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	561327	\N	\N	EFO	2	EFO	quality	hair morphology
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005038	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	1143082	\N	\N	EFO	3	EFO	material property	hair morphology
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005038	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	2025806	\N	\N	EFO	4	EFO	experimental factor	hair morphology
EFO:0005039	\N	\N	"Atrophy of the hippocampus as a result of some external stress or disease" []	EFO:0005039	"Atrophy of the hippocampus as a result of some external stress or disease" []	66820	\N	\N	EFO	0	EFO	hippocampal atrophy	hippocampal atrophy
EFO:0005774	EFO:0005039	\N	"A disease affecting the brain or part of the brain." []	EFO:0005039	"Atrophy of the hippocampus as a result of some external stress or disease" []	208167	\N	\N	EFO	1	EFO	brain disease	hippocampal atrophy
EFO:1000096	EFO:0005039	\N	"Any weakening or degeneration, especially through lack of use." []	EFO:0005039	"Atrophy of the hippocampus as a result of some external stress or disease" []	208168	\N	\N	EFO	1	EFO	Atrophy	hippocampal atrophy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005039	"Atrophy of the hippocampus as a result of some external stress or disease" []	561328	\N	\N	EFO	2	EFO	nervous system disease	hippocampal atrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005039	"Atrophy of the hippocampus as a result of some external stress or disease" []	1143083	\N	\N	EFO	3	EFO	disease	hippocampal atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005039	"Atrophy of the hippocampus as a result of some external stress or disease" []	2025807	\N	\N	EFO	4	EFO	disposition	hippocampal atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005039	"Atrophy of the hippocampus as a result of some external stress or disease" []	3178295	\N	\N	EFO	5	EFO	material property	hippocampal atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005039	"Atrophy of the hippocampus as a result of some external stress or disease" []	4388153	\N	\N	EFO	6	EFO	experimental factor	hippocampal atrophy
EFO:0005043	\N	\N	"Is a quantification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction." []	EFO:0005043	"Is a quantification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction." []	66821	\N	\N	EFO	0	EFO	cardiac troponin T measurement	cardiac troponin T measurement
EFO:0004311	EFO:0005043	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0005043	"Is a quantification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction." []	208169	\N	\N	EFO	1	EFO	heart function measurement	cardiac troponin T measurement
EFO:0004747	EFO:0005043	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005043	"Is a quantification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction." []	208170	\N	\N	EFO	1	EFO	protein measurement	cardiac troponin T measurement
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005043	"Is a quantification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction." []	561329	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	cardiac troponin T measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005043	"Is a quantification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction." []	561330	\N	\N	EFO	2	EFO	measurement	cardiac troponin T measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005043	"Is a quantification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction." []	1143084	\N	\N	EFO	3	EFO	cardiovascular measurement	cardiac troponin T measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005043	"Is a quantification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction." []	3178296	\N	\N	EFO	5	EFO	information entity	cardiac troponin T measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005043	"Is a quantification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction." []	2025808	\N	\N	EFO	4	EFO	measurement	cardiac troponin T measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005043	"Is a quantification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction." []	4066716	\N	\N	EFO	6	EFO	experimental factor	cardiac troponin T measurement
EFO:0005044	\N	\N	"Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." []	EFO:0005044	"Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." []	66822	\N	\N	EFO	0	EFO	Leishmaniasis	Leishmaniasis
EFO:0001067	EFO:0005044	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0005044	"Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." []	208171	\N	\N	EFO	1	EFO	parasitic infection	Leishmaniasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005044	"Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." []	561331	\N	\N	EFO	2	EFO	infectious disease	Leishmaniasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005044	"Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." []	1143086	\N	\N	EFO	3	EFO	disease	Leishmaniasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005044	"Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." []	2025810	\N	\N	EFO	4	EFO	disposition	Leishmaniasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005044	"Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." []	3178297	\N	\N	EFO	5	EFO	material property	Leishmaniasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005044	"Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." []	4388154	\N	\N	EFO	6	EFO	experimental factor	Leishmaniasis
EFO:0005045	\N	\N	"Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease." []	EFO:0005045	"Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease." []	66823	\N	\N	EFO	0	EFO	visceral Leishmaniasis	visceral Leishmaniasis
EFO:0005044	EFO:0005045	\N	"Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." []	EFO:0005045	"Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease." []	208172	\N	\N	EFO	1	EFO	Leishmaniasis	visceral Leishmaniasis
EFO:0001067	EFO:0005044	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0005045	"Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease." []	561332	\N	\N	EFO	2	EFO	parasitic infection	visceral Leishmaniasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005045	"Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease." []	1143087	\N	\N	EFO	3	EFO	infectious disease	visceral Leishmaniasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005045	"Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease." []	2025811	\N	\N	EFO	4	EFO	disease	visceral Leishmaniasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005045	"Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease." []	3178298	\N	\N	EFO	5	EFO	disposition	visceral Leishmaniasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005045	"Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease." []	4388155	\N	\N	EFO	6	EFO	material property	visceral Leishmaniasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005045	"Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease." []	5408778	\N	\N	EFO	7	EFO	experimental factor	visceral Leishmaniasis
EFO:0005046	\N	\N	"Is a parasitic infection of  the skin caused by the Leishmania protozoan parasite" []	EFO:0005046	"Is a parasitic infection of  the skin caused by the Leishmania protozoan parasite" []	66824	\N	\N	EFO	0	EFO	cutaneous Leishmaniasis	cutaneous Leishmaniasis
EFO:0005044	EFO:0005046	\N	"Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." []	EFO:0005046	"Is a parasitic infection of  the skin caused by the Leishmania protozoan parasite" []	208173	\N	\N	EFO	1	EFO	Leishmaniasis	cutaneous Leishmaniasis
EFO:0001067	EFO:0005044	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0005046	"Is a parasitic infection of  the skin caused by the Leishmania protozoan parasite" []	561333	\N	\N	EFO	2	EFO	parasitic infection	cutaneous Leishmaniasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005046	"Is a parasitic infection of  the skin caused by the Leishmania protozoan parasite" []	1143088	\N	\N	EFO	3	EFO	infectious disease	cutaneous Leishmaniasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005046	"Is a parasitic infection of  the skin caused by the Leishmania protozoan parasite" []	2025812	\N	\N	EFO	4	EFO	disease	cutaneous Leishmaniasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005046	"Is a parasitic infection of  the skin caused by the Leishmania protozoan parasite" []	3178299	\N	\N	EFO	5	EFO	disposition	cutaneous Leishmaniasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005046	"Is a parasitic infection of  the skin caused by the Leishmania protozoan parasite" []	4388156	\N	\N	EFO	6	EFO	material property	cutaneous Leishmaniasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005046	"Is a parasitic infection of  the skin caused by the Leishmania protozoan parasite" []	5408779	\N	\N	EFO	7	EFO	experimental factor	cutaneous Leishmaniasis
EFO:0005047	\N	\N	"Is a quantification of some aspect of erythrocyte function, quanity, or composition." []	EFO:0005047	"Is a quantification of some aspect of erythrocyte function, quanity, or composition." []	66825	\N	\N	EFO	0	EFO	erythrocyte measurement	erythrocyte measurement
EFO:0004503	EFO:0005047	\N	"A measurement quantifying some blood cell, or component." []	EFO:0005047	"Is a quantification of some aspect of erythrocyte function, quanity, or composition." []	208174	\N	\N	EFO	1	EFO	hematological measurement	erythrocyte measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005047	"Is a quantification of some aspect of erythrocyte function, quanity, or composition." []	561334	\N	\N	EFO	2	EFO	measurement	erythrocyte measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005047	"Is a quantification of some aspect of erythrocyte function, quanity, or composition." []	1143089	\N	\N	EFO	3	EFO	information entity	erythrocyte measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005047	"Is a quantification of some aspect of erythrocyte function, quanity, or composition." []	2025813	\N	\N	EFO	4	EFO	experimental factor	erythrocyte measurement
EFO:0005051	\N	\N	"The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol." []	EFO:0005051	"The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol." []	66826	\N	\N	EFO	0	EFO	454 GS 20 standard manufacturer's protocol	454 GS 20 standard manufacturer's protocol
EFO:0004170	EFO:0005051	\N	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	EFO:0005051	"The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol." []	208175	\N	\N	EFO	1	EFO	nucleic acid sequencing protocol	454 GS 20 standard manufacturer's protocol
EFO:0004105	EFO:0004170	\N	"Sequencing library selection permitted in Atlas" []	EFO:0005051	"The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol." []	561335	\N	\N	EFO	2	EFO	seq library selection	454 GS 20 standard manufacturer's protocol
OBI:0000272	EFO:0004170	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005051	"The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol." []	561336	\N	\N	EFO	2	EFO	protocol	454 GS 20 standard manufacturer's protocol
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005051	"The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol." []	1143090	\N	\N	EFO	3	EFO	experimental process	454 GS 20 standard manufacturer's protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005051	"The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol." []	1143091	\N	\N	EFO	3	EFO	information entity	454 GS 20 standard manufacturer's protocol
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005051	"The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol." []	2025814	\N	\N	EFO	4	EFO	planned process	454 GS 20 standard manufacturer's protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005051	"The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol." []	2025815	\N	\N	EFO	4	EFO	experimental factor	454 GS 20 standard manufacturer's protocol
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005051	"The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol." []	3178300	\N	\N	EFO	5	EFO	process	454 GS 20 standard manufacturer's protocol
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005051	"The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol." []	4388157	\N	\N	EFO	6	EFO	experimental factor	454 GS 20 standard manufacturer's protocol
EFO:0005052	\N	\N	"" []	EFO:0005052	"" []	66827	\N	\N	EFO	0	EFO	nervous system measurement	nervous system measurement
EFO:0001444	EFO:0005052	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005052	"" []	208176	\N	\N	EFO	1	EFO	measurement	nervous system measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005052	"" []	561337	\N	\N	EFO	2	EFO	information entity	nervous system measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005052	"" []	1143092	\N	\N	EFO	3	EFO	experimental factor	nervous system measurement
EFO:0005053	\N	\N	"Is a quantification of the internal carotid intimal medial thickness." []	EFO:0005053	"Is a quantification of the internal carotid intimal medial thickness." []	66828	\N	\N	EFO	0	EFO	internal carotid intimal medial thickness	internal carotid intimal medial thickness
EFO:0005278	EFO:0005053	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005053	"Is a quantification of the internal carotid intimal medial thickness." []	208177	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	internal carotid intimal medial thickness
EFO:0007117	EFO:0005053	\N	"quantification of the thickness of tunica intima and tunica media, the innermost two layers of the wall of the carotid artery, usually by carotid ultrasound" []	EFO:0005053	"Is a quantification of the internal carotid intimal medial thickness." []	208178	\N	\N	EFO	1	EFO	carotid artery intima media thickness	internal carotid intimal medial thickness
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005053	"Is a quantification of the internal carotid intimal medial thickness." []	561338	\N	\N	EFO	2	EFO	cardiovascular measurement	internal carotid intimal medial thickness
EFO:0007717	EFO:0007117	\N	"Quantification of some aspect of the carotid artery geometry" []	EFO:0005053	"Is a quantification of the internal carotid intimal medial thickness." []	561339	\N	\N	EFO	2	EFO	carotid artery geometry measurement	internal carotid intimal medial thickness
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005053	"Is a quantification of the internal carotid intimal medial thickness." []	1143093	\N	\N	EFO	3	EFO	measurement	internal carotid intimal medial thickness
EFO:0007716	EFO:0007717	\N	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	EFO:0005053	"Is a quantification of the internal carotid intimal medial thickness." []	1143094	\N	\N	EFO	3	EFO	carotid artery measurement	internal carotid intimal medial thickness
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005053	"Is a quantification of the internal carotid intimal medial thickness." []	3178302	\N	\N	EFO	5	EFO	information entity	internal carotid intimal medial thickness
EFO:0001444	EFO:0007716	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005053	"Is a quantification of the internal carotid intimal medial thickness." []	2025817	\N	\N	EFO	4	EFO	measurement	internal carotid intimal medial thickness
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005053	"Is a quantification of the internal carotid intimal medial thickness." []	4132668	\N	\N	EFO	6	EFO	experimental factor	internal carotid intimal medial thickness
EFO:0005054	\N	\N	"A QRS complex is a combination of the three electrocardiographical measurements of the Q, R and S waves in the heart's electrical cycle. It corresponds to the depolarization of the right and left ventricles of the human heart. The QRS complex can be further classified into a set of parameters, including QRS duration, QRS amplitude and ventricular activation time (VAT)." []	EFO:0005054	"A QRS complex is a combination of the three electrocardiographical measurements of the Q, R and S waves in the heart's electrical cycle. It corresponds to the depolarization of the right and left ventricles of the human heart. The QRS complex can be further classified into a set of parameters, including QRS duration, QRS amplitude and ventricular activation time (VAT)." []	66829	\N	\N	EFO	0	EFO	QRS complex	QRS complex
EFO:0004327	EFO:0005054	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0005054	"A QRS complex is a combination of the three electrocardiographical measurements of the Q, R and S waves in the heart's electrical cycle. It corresponds to the depolarization of the right and left ventricles of the human heart. The QRS complex can be further classified into a set of parameters, including QRS duration, QRS amplitude and ventricular activation time (VAT)." []	208179	\N	\N	EFO	1	EFO	electrocardiography	QRS complex
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0005054	"A QRS complex is a combination of the three electrocardiographical measurements of the Q, R and S waves in the heart's electrical cycle. It corresponds to the depolarization of the right and left ventricles of the human heart. The QRS complex can be further classified into a set of parameters, including QRS duration, QRS amplitude and ventricular activation time (VAT)." []	561340	\N	\N	EFO	2	EFO	heart function measurement	QRS complex
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005054	"A QRS complex is a combination of the three electrocardiographical measurements of the Q, R and S waves in the heart's electrical cycle. It corresponds to the depolarization of the right and left ventricles of the human heart. The QRS complex can be further classified into a set of parameters, including QRS duration, QRS amplitude and ventricular activation time (VAT)." []	1143095	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	QRS complex
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005054	"A QRS complex is a combination of the three electrocardiographical measurements of the Q, R and S waves in the heart's electrical cycle. It corresponds to the depolarization of the right and left ventricles of the human heart. The QRS complex can be further classified into a set of parameters, including QRS duration, QRS amplitude and ventricular activation time (VAT)." []	2025818	\N	\N	EFO	4	EFO	cardiovascular measurement	QRS complex
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005054	"A QRS complex is a combination of the three electrocardiographical measurements of the Q, R and S waves in the heart's electrical cycle. It corresponds to the depolarization of the right and left ventricles of the human heart. The QRS complex can be further classified into a set of parameters, including QRS duration, QRS amplitude and ventricular activation time (VAT)." []	3178303	\N	\N	EFO	5	EFO	measurement	QRS complex
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005054	"A QRS complex is a combination of the three electrocardiographical measurements of the Q, R and S waves in the heart's electrical cycle. It corresponds to the depolarization of the right and left ventricles of the human heart. The QRS complex can be further classified into a set of parameters, including QRS duration, QRS amplitude and ventricular activation time (VAT)." []	4388158	\N	\N	EFO	6	EFO	information entity	QRS complex
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005054	"A QRS complex is a combination of the three electrocardiographical measurements of the Q, R and S waves in the heart's electrical cycle. It corresponds to the depolarization of the right and left ventricles of the human heart. The QRS complex can be further classified into a set of parameters, including QRS duration, QRS amplitude and ventricular activation time (VAT)." []	5408780	\N	\N	EFO	7	EFO	experimental factor	QRS complex
EFO:0005055	\N	\N	"QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle" []	EFO:0005055	"QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle" []	66830	\N	\N	EFO	0	EFO	QRS duration	QRS duration
EFO:0000719	EFO:0005055	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0005055	"QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle" []	208180	\N	\N	EFO	1	EFO	temporal measurement	QRS duration
EFO:0004327	EFO:0005055	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0005055	"QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle" []	208181	\N	\N	EFO	1	EFO	electrocardiography	QRS duration
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005055	"QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle" []	561341	\N	\N	EFO	2	EFO	measurement	QRS duration
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0005055	"QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle" []	561342	\N	\N	EFO	2	EFO	heart function measurement	QRS duration
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005055	"QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle" []	4388159	\N	\N	EFO	6	EFO	information entity	QRS duration
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005055	"QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle" []	1143097	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	QRS duration
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005055	"QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle" []	5028338	\N	\N	EFO	7	EFO	experimental factor	QRS duration
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005055	"QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle" []	2025820	\N	\N	EFO	4	EFO	cardiovascular measurement	QRS duration
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005055	"QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle" []	3178304	\N	\N	EFO	5	EFO	measurement	QRS duration
EFO:0005056	\N	\N	"The age at which death occurs." []	EFO:0005056	"The age at which death occurs." []	66831	\N	\N	EFO	0	EFO	age at death	age at death
EFO:0000246	EFO:0005056	\N	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	EFO:0005056	"The age at which death occurs." []	208182	\N	\N	EFO	1	EFO	age	age at death
EFO:0000719	EFO:0000246	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0005056	"The age at which death occurs." []	561343	\N	\N	EFO	2	EFO	temporal measurement	age at death
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005056	"The age at which death occurs." []	1143098	\N	\N	EFO	3	EFO	measurement	age at death
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005056	"The age at which death occurs." []	2025821	\N	\N	EFO	4	EFO	information entity	age at death
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005056	"The age at which death occurs." []	3178305	\N	\N	EFO	5	EFO	experimental factor	age at death
EFO:0005057	\N	\N	"The determination of the amount of myoglobin present in a sample, usually blood" []	EFO:0005057	"The determination of the amount of myoglobin present in a sample, usually blood" []	66832	\N	\N	EFO	0	EFO	myoglobin measurement	myoglobin measurement
EFO:0001444	EFO:0005057	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005057	"The determination of the amount of myoglobin present in a sample, usually blood" []	208183	\N	\N	EFO	1	EFO	measurement	myoglobin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005057	"The determination of the amount of myoglobin present in a sample, usually blood" []	561344	\N	\N	EFO	2	EFO	information entity	myoglobin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005057	"The determination of the amount of myoglobin present in a sample, usually blood" []	1143099	\N	\N	EFO	3	EFO	experimental factor	myoglobin measurement
EFO:0005058	\N	\N	"The quantification of some tyrosine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	EFO:0005058	"The quantification of some tyrosine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	66833	\N	\N	EFO	0	EFO	tyrosine measurement	tyrosine measurement
EFO:0001444	EFO:0005058	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005058	"The quantification of some tyrosine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	208184	\N	\N	EFO	1	EFO	measurement	tyrosine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005058	"The quantification of some tyrosine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	561345	\N	\N	EFO	2	EFO	information entity	tyrosine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005058	"The quantification of some tyrosine, typically obtained from an individual with the intention of using the measurement in some diagnostic process." []	1143100	\N	\N	EFO	3	EFO	experimental factor	tyrosine measurement
EFO:0005059	\N	\N	"The quantification of some acylcarnitine, typically obtained from the blood of an individual with the intention of using the measurement in some diagnostic process. The test is used in the diagnosis of iherited fatty acid metabolic disorders. " []	EFO:0005059	"The quantification of some acylcarnitine, typically obtained from the blood of an individual with the intention of using the measurement in some diagnostic process. The test is used in the diagnosis of iherited fatty acid metabolic disorders. " []	66834	\N	\N	EFO	0	EFO	acylcarnitine measurement	acylcarnitine measurement
EFO:0004725	EFO:0005059	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0005059	"The quantification of some acylcarnitine, typically obtained from the blood of an individual with the intention of using the measurement in some diagnostic process. The test is used in the diagnosis of iherited fatty acid metabolic disorders. " []	208185	\N	\N	EFO	1	EFO	metabolite measurement	acylcarnitine measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005059	"The quantification of some acylcarnitine, typically obtained from the blood of an individual with the intention of using the measurement in some diagnostic process. The test is used in the diagnosis of iherited fatty acid metabolic disorders. " []	561346	\N	\N	EFO	2	EFO	measurement	acylcarnitine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005059	"The quantification of some acylcarnitine, typically obtained from the blood of an individual with the intention of using the measurement in some diagnostic process. The test is used in the diagnosis of iherited fatty acid metabolic disorders. " []	1143101	\N	\N	EFO	3	EFO	information entity	acylcarnitine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005059	"The quantification of some acylcarnitine, typically obtained from the blood of an individual with the intention of using the measurement in some diagnostic process. The test is used in the diagnosis of iherited fatty acid metabolic disorders. " []	2025822	\N	\N	EFO	4	EFO	experimental factor	acylcarnitine measurement
EFO:0005060	\N	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005060	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	66835	\N	\N	EFO	0	EFO	instrument part	instrument part
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005060	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	208186	\N	\N	EFO	1	EFO	material entity	instrument part
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005060	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	561347	\N	\N	EFO	2	EFO	experimental factor	instrument part
EFO:0005061	\N	\N	"A substrate is the surface on which material, such as an organism, is grown or attached." []	EFO:0005061	"A substrate is the surface on which material, such as an organism, is grown or attached." []	66836	\N	\N	EFO	0	EFO	substrate	substrate
EFO:0005060	EFO:0005061	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005061	"A substrate is the surface on which material, such as an organism, is grown or attached." []	208187	\N	\N	EFO	1	EFO	instrument part	substrate
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005061	"A substrate is the surface on which material, such as an organism, is grown or attached." []	561348	\N	\N	EFO	2	EFO	material entity	substrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005061	"A substrate is the surface on which material, such as an organism, is grown or attached." []	1143102	\N	\N	EFO	3	EFO	experimental factor	substrate
EFO:0005062	\N	\N	"A subtrate made of glass." []	EFO:0005062	"A subtrate made of glass." []	66837	\N	\N	EFO	0	EFO	glass substrate	glass substrate
EFO:0005061	EFO:0005062	\N	"A substrate is the surface on which material, such as an organism, is grown or attached." []	EFO:0005062	"A subtrate made of glass." []	208188	\N	\N	EFO	1	EFO	substrate	glass substrate
EFO:0005060	EFO:0005061	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005062	"A subtrate made of glass." []	561349	\N	\N	EFO	2	EFO	instrument part	glass substrate
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005062	"A subtrate made of glass." []	1143103	\N	\N	EFO	3	EFO	material entity	glass substrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005062	"A subtrate made of glass." []	2025823	\N	\N	EFO	4	EFO	experimental factor	glass substrate
EFO:0005063	\N	\N	"A substrate made on a nylon membrane." []	EFO:0005063	"A substrate made on a nylon membrane." []	66838	\N	\N	EFO	0	EFO	nylon substrate	nylon substrate
EFO:0005061	EFO:0005063	\N	"A substrate is the surface on which material, such as an organism, is grown or attached." []	EFO:0005063	"A substrate made on a nylon membrane." []	208189	\N	\N	EFO	1	EFO	substrate	nylon substrate
EFO:0005060	EFO:0005061	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005063	"A substrate made on a nylon membrane." []	561350	\N	\N	EFO	2	EFO	instrument part	nylon substrate
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005063	"A substrate made on a nylon membrane." []	1143104	\N	\N	EFO	3	EFO	material entity	nylon substrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005063	"A substrate made on a nylon membrane." []	2025824	\N	\N	EFO	4	EFO	experimental factor	nylon substrate
EFO:0005064	\N	\N	"A substrate made of nitrocellulose." []	EFO:0005064	"A substrate made of nitrocellulose." []	66839	\N	\N	EFO	0	EFO	nitrocellulose substrate	nitrocellulose substrate
EFO:0005061	EFO:0005064	\N	"A substrate is the surface on which material, such as an organism, is grown or attached." []	EFO:0005064	"A substrate made of nitrocellulose." []	208190	\N	\N	EFO	1	EFO	substrate	nitrocellulose substrate
EFO:0005060	EFO:0005061	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005064	"A substrate made of nitrocellulose." []	561351	\N	\N	EFO	2	EFO	instrument part	nitrocellulose substrate
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005064	"A substrate made of nitrocellulose." []	1143105	\N	\N	EFO	3	EFO	material entity	nitrocellulose substrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005064	"A substrate made of nitrocellulose." []	2025825	\N	\N	EFO	4	EFO	experimental factor	nitrocellulose substrate
EFO:0005065	\N	\N	"Substrate made of silicon." []	EFO:0005065	"Substrate made of silicon." []	66840	\N	\N	EFO	0	EFO	silicon substrate	silicon substrate
EFO:0005061	EFO:0005065	\N	"A substrate is the surface on which material, such as an organism, is grown or attached." []	EFO:0005065	"Substrate made of silicon." []	208191	\N	\N	EFO	1	EFO	substrate	silicon substrate
EFO:0005060	EFO:0005061	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005065	"Substrate made of silicon." []	561352	\N	\N	EFO	2	EFO	instrument part	silicon substrate
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005065	"Substrate made of silicon." []	1143106	\N	\N	EFO	3	EFO	material entity	silicon substrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005065	"Substrate made of silicon." []	2025826	\N	\N	EFO	4	EFO	experimental factor	silicon substrate
EFO:0005066	\N	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0005066	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	66841	\N	\N	EFO	0	EFO	collection of material	collection of material
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005066	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	208192	\N	\N	EFO	1	EFO	material entity	collection of material
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005066	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	561353	\N	\N	EFO	2	EFO	experimental factor	collection of material
EFO:0005067	\N	\N	"A block or batch is an experimental unit arrangement into a group which is similar to one another. Typically, a blocking factor is a source of variability that is not of primary interest to the experimenter. An example of a blocking factor might be the sex of a patient; by blocking on sex, this source of variability is controlled for, thus leading to greater accuracy." []	EFO:0005067	"A block or batch is an experimental unit arrangement into a group which is similar to one another. Typically, a blocking factor is a source of variability that is not of primary interest to the experimenter. An example of a blocking factor might be the sex of a patient; by blocking on sex, this source of variability is controlled for, thus leading to greater accuracy." []	66842	\N	\N	EFO	0	EFO	block	block
EFO:0005066	EFO:0005067	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0005067	"A block or batch is an experimental unit arrangement into a group which is similar to one another. Typically, a blocking factor is a source of variability that is not of primary interest to the experimenter. An example of a blocking factor might be the sex of a patient; by blocking on sex, this source of variability is controlled for, thus leading to greater accuracy." []	208193	\N	\N	EFO	1	EFO	collection of material	block
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005067	"A block or batch is an experimental unit arrangement into a group which is similar to one another. Typically, a blocking factor is a source of variability that is not of primary interest to the experimenter. An example of a blocking factor might be the sex of a patient; by blocking on sex, this source of variability is controlled for, thus leading to greater accuracy." []	561354	\N	\N	EFO	2	EFO	material entity	block
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005067	"A block or batch is an experimental unit arrangement into a group which is similar to one another. Typically, a blocking factor is a source of variability that is not of primary interest to the experimenter. An example of a blocking factor might be the sex of a patient; by blocking on sex, this source of variability is controlled for, thus leading to greater accuracy." []	1143107	\N	\N	EFO	3	EFO	experimental factor	block
EFO:0005069	\N	\N	"The surface used to coat the array substrate." []	EFO:0005069	"The surface used to coat the array substrate." []	66843	\N	\N	EFO	0	EFO	array surface coating	array surface coating
EFO:0005060	EFO:0005069	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005069	"The surface used to coat the array substrate." []	208194	\N	\N	EFO	1	EFO	instrument part	array surface coating
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005069	"The surface used to coat the array substrate." []	561355	\N	\N	EFO	2	EFO	material entity	array surface coating
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005069	"The surface used to coat the array substrate." []	1143108	\N	\N	EFO	3	EFO	experimental factor	array surface coating
EFO:0005070	\N	\N	"An array substrate coating formed using aminosilane." []	EFO:0005070	"An array substrate coating formed using aminosilane." []	66844	\N	\N	EFO	0	EFO	aminosilane substrate coating	aminosilane substrate coating
EFO:0005069	EFO:0005070	\N	"The surface used to coat the array substrate." []	EFO:0005070	"An array substrate coating formed using aminosilane." []	208195	\N	\N	EFO	1	EFO	array surface coating	aminosilane substrate coating
EFO:0005060	EFO:0005069	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005070	"An array substrate coating formed using aminosilane." []	561356	\N	\N	EFO	2	EFO	instrument part	aminosilane substrate coating
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005070	"An array substrate coating formed using aminosilane." []	1143109	\N	\N	EFO	3	EFO	material entity	aminosilane substrate coating
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005070	"An array substrate coating formed using aminosilane." []	2025827	\N	\N	EFO	4	EFO	experimental factor	aminosilane substrate coating
EFO:0005071	\N	\N	"An array substrate coating formed using polylysine." []	EFO:0005071	"An array substrate coating formed using polylysine." []	66845	\N	\N	EFO	0	EFO	polylysine substrate coating	polylysine substrate coating
EFO:0005069	EFO:0005071	\N	"The surface used to coat the array substrate." []	EFO:0005071	"An array substrate coating formed using polylysine." []	208196	\N	\N	EFO	1	EFO	array surface coating	polylysine substrate coating
EFO:0005060	EFO:0005069	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005071	"An array substrate coating formed using polylysine." []	561357	\N	\N	EFO	2	EFO	instrument part	polylysine substrate coating
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005071	"An array substrate coating formed using polylysine." []	1143110	\N	\N	EFO	3	EFO	material entity	polylysine substrate coating
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005071	"An array substrate coating formed using polylysine." []	2025828	\N	\N	EFO	4	EFO	experimental factor	polylysine substrate coating
EFO:0005072	\N	\N	"A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." []	EFO:0005072	"A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." []	66846	\N	\N	EFO	0	EFO	array reporter	array reporter
EFO:0005060	EFO:0005072	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005072	"A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." []	208197	\N	\N	EFO	1	EFO	instrument part	array reporter
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005072	"A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." []	561358	\N	\N	EFO	2	EFO	material entity	array reporter
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005072	"A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." []	1143111	\N	\N	EFO	3	EFO	experimental factor	array reporter
EFO:0005073	\N	\N	"A type of reporter which is created using in situ methods." []	EFO:0005073	"A type of reporter which is created using in situ methods." []	66847	\N	\N	EFO	0	EFO	in situ oligo	in situ oligo
EFO:0005072	EFO:0005073	\N	"A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." []	EFO:0005073	"A type of reporter which is created using in situ methods." []	208198	\N	\N	EFO	1	EFO	array reporter	in situ oligo
EFO:0005060	EFO:0005072	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005073	"A type of reporter which is created using in situ methods." []	561359	\N	\N	EFO	2	EFO	instrument part	in situ oligo
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005073	"A type of reporter which is created using in situ methods." []	1143112	\N	\N	EFO	3	EFO	material entity	in situ oligo
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005073	"A type of reporter which is created using in situ methods." []	2025829	\N	\N	EFO	4	EFO	experimental factor	in situ oligo
EFO:0005074	\N	\N	"Type of array reporter which is formed from antibodies being spotted directly on to the array surface." []	EFO:0005074	"Type of array reporter which is formed from antibodies being spotted directly on to the array surface." []	66848	\N	\N	EFO	0	EFO	spotted antibody reporter	spotted antibody reporter
EFO:0005077	EFO:0005074	\N	"Type of array reporter which is formed from proteins being spotted directly on to the array surface." []	EFO:0005074	"Type of array reporter which is formed from antibodies being spotted directly on to the array surface." []	208199	\N	\N	EFO	1	EFO	spotted protein reporter	spotted antibody reporter
EFO:0005072	EFO:0005077	\N	"A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." []	EFO:0005074	"Type of array reporter which is formed from antibodies being spotted directly on to the array surface." []	561360	\N	\N	EFO	2	EFO	array reporter	spotted antibody reporter
EFO:0005060	EFO:0005072	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005074	"Type of array reporter which is formed from antibodies being spotted directly on to the array surface." []	1143113	\N	\N	EFO	3	EFO	instrument part	spotted antibody reporter
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005074	"Type of array reporter which is formed from antibodies being spotted directly on to the array surface." []	2025830	\N	\N	EFO	4	EFO	material entity	spotted antibody reporter
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005074	"Type of array reporter which is formed from antibodies being spotted directly on to the array surface." []	3178306	\N	\N	EFO	5	EFO	experimental factor	spotted antibody reporter
EFO:0005075	\N	\N	"Type of array reporter formed from colonies (such as bacteria) are spotted directly on to the array surface." []	EFO:0005075	"Type of array reporter formed from colonies (such as bacteria) are spotted directly on to the array surface." []	66849	\N	\N	EFO	0	EFO	spotted colony reporter	spotted colony reporter
EFO:0005072	EFO:0005075	\N	"A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." []	EFO:0005075	"Type of array reporter formed from colonies (such as bacteria) are spotted directly on to the array surface." []	208200	\N	\N	EFO	1	EFO	array reporter	spotted colony reporter
EFO:0005060	EFO:0005072	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005075	"Type of array reporter formed from colonies (such as bacteria) are spotted directly on to the array surface." []	561361	\N	\N	EFO	2	EFO	instrument part	spotted colony reporter
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005075	"Type of array reporter formed from colonies (such as bacteria) are spotted directly on to the array surface." []	1143114	\N	\N	EFO	3	EFO	material entity	spotted colony reporter
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005075	"Type of array reporter formed from colonies (such as bacteria) are spotted directly on to the array surface." []	2025831	\N	\N	EFO	4	EFO	experimental factor	spotted colony reporter
EFO:0005076	\N	\N	"An array reporter formed from directly spotting double stranded DNA on to the array surface." []	EFO:0005076	"An array reporter formed from directly spotting double stranded DNA on to the array surface." []	66850	\N	\N	EFO	0	EFO	spotted double stranded DNA reporter	spotted double stranded DNA reporter
EFO:0005072	EFO:0005076	\N	"A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." []	EFO:0005076	"An array reporter formed from directly spotting double stranded DNA on to the array surface." []	208201	\N	\N	EFO	1	EFO	array reporter	spotted double stranded DNA reporter
EFO:0005060	EFO:0005072	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005076	"An array reporter formed from directly spotting double stranded DNA on to the array surface." []	561362	\N	\N	EFO	2	EFO	instrument part	spotted double stranded DNA reporter
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005076	"An array reporter formed from directly spotting double stranded DNA on to the array surface." []	1143115	\N	\N	EFO	3	EFO	material entity	spotted double stranded DNA reporter
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005076	"An array reporter formed from directly spotting double stranded DNA on to the array surface." []	2025832	\N	\N	EFO	4	EFO	experimental factor	spotted double stranded DNA reporter
EFO:0005077	\N	\N	"Type of array reporter which is formed from proteins being spotted directly on to the array surface." []	EFO:0005077	"Type of array reporter which is formed from proteins being spotted directly on to the array surface." []	66851	\N	\N	EFO	0	EFO	spotted protein reporter	spotted protein reporter
EFO:0005072	EFO:0005077	\N	"A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." []	EFO:0005077	"Type of array reporter which is formed from proteins being spotted directly on to the array surface." []	208202	\N	\N	EFO	1	EFO	array reporter	spotted protein reporter
EFO:0005060	EFO:0005072	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005077	"Type of array reporter which is formed from proteins being spotted directly on to the array surface." []	561363	\N	\N	EFO	2	EFO	instrument part	spotted protein reporter
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005077	"Type of array reporter which is formed from proteins being spotted directly on to the array surface." []	1143116	\N	\N	EFO	3	EFO	material entity	spotted protein reporter
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005077	"Type of array reporter which is formed from proteins being spotted directly on to the array surface." []	2025833	\N	\N	EFO	4	EFO	experimental factor	spotted protein reporter
EFO:0005078	\N	\N	"An array reporter created by directly spotting a single stranded DNA PCR product on to the array surface." []	EFO:0005078	"An array reporter created by directly spotting a single stranded DNA PCR product on to the array surface." []	66852	\N	\N	EFO	0	EFO	spotted single stranded DNA PCR amplicon reporter	spotted single stranded DNA PCR amplicon reporter
EFO:0005072	EFO:0005078	\N	"A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." []	EFO:0005078	"An array reporter created by directly spotting a single stranded DNA PCR product on to the array surface." []	208203	\N	\N	EFO	1	EFO	array reporter	spotted single stranded DNA PCR amplicon reporter
EFO:0005060	EFO:0005072	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005078	"An array reporter created by directly spotting a single stranded DNA PCR product on to the array surface." []	561364	\N	\N	EFO	2	EFO	instrument part	spotted single stranded DNA PCR amplicon reporter
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005078	"An array reporter created by directly spotting a single stranded DNA PCR product on to the array surface." []	1143117	\N	\N	EFO	3	EFO	material entity	spotted single stranded DNA PCR amplicon reporter
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005078	"An array reporter created by directly spotting a single stranded DNA PCR product on to the array surface." []	2025834	\N	\N	EFO	4	EFO	experimental factor	spotted single stranded DNA PCR amplicon reporter
EFO:0005079	\N	\N	"An array reporter created by directly spotting single stranded oligonucleotides on to the array surface." []	EFO:0005079	"An array reporter created by directly spotting single stranded oligonucleotides on to the array surface." []	66853	\N	\N	EFO	0	EFO	spotted single stranded oligo reporter	spotted single stranded oligo reporter
EFO:0005072	EFO:0005079	\N	"A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified." []	EFO:0005079	"An array reporter created by directly spotting single stranded oligonucleotides on to the array surface." []	208204	\N	\N	EFO	1	EFO	array reporter	spotted single stranded oligo reporter
EFO:0005060	EFO:0005072	\N	"Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments." []	EFO:0005079	"An array reporter created by directly spotting single stranded oligonucleotides on to the array surface." []	561365	\N	\N	EFO	2	EFO	instrument part	spotted single stranded oligo reporter
BFO:0000040	EFO:0005060	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005079	"An array reporter created by directly spotting single stranded oligonucleotides on to the array surface." []	1143118	\N	\N	EFO	3	EFO	material entity	spotted single stranded oligo reporter
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005079	"An array reporter created by directly spotting single stranded oligonucleotides on to the array surface." []	2025835	\N	\N	EFO	4	EFO	experimental factor	spotted single stranded oligo reporter
EFO:0005080	\N	\N	"Quantification of the pneumoprotein CC16 or clara cell secreted protein . CC16 plays an important protective role in the respiratory tract against oxidative stress and inflammatory response. CC16 is used peripheral lung marker for assessing the cellular integrity or the permeability of the lung epithelium and serum CC16 is increased serum in acute or chronic lung disorders characterized by an increased airways permeability." []	EFO:0005080	"Quantification of the pneumoprotein CC16 or clara cell secreted protein . CC16 plays an important protective role in the respiratory tract against oxidative stress and inflammatory response. CC16 is used peripheral lung marker for assessing the cellular integrity or the permeability of the lung epithelium and serum CC16 is increased serum in acute or chronic lung disorders characterized by an increased airways permeability." []	66854	\N	\N	EFO	0	EFO	CC16 measurement	CC16 measurement
EFO:0006841	EFO:0005080	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0005080	"Quantification of the pneumoprotein CC16 or clara cell secreted protein . CC16 plays an important protective role in the respiratory tract against oxidative stress and inflammatory response. CC16 is used peripheral lung marker for assessing the cellular integrity or the permeability of the lung epithelium and serum CC16 is increased serum in acute or chronic lung disorders characterized by an increased airways permeability." []	208205	\N	\N	EFO	1	EFO	respiratory disease biomarker	CC16 measurement
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005080	"Quantification of the pneumoprotein CC16 or clara cell secreted protein . CC16 plays an important protective role in the respiratory tract against oxidative stress and inflammatory response. CC16 is used peripheral lung marker for assessing the cellular integrity or the permeability of the lung epithelium and serum CC16 is increased serum in acute or chronic lung disorders characterized by an increased airways permeability." []	561366	\N	\N	EFO	2	EFO	measurement	CC16 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005080	"Quantification of the pneumoprotein CC16 or clara cell secreted protein . CC16 plays an important protective role in the respiratory tract against oxidative stress and inflammatory response. CC16 is used peripheral lung marker for assessing the cellular integrity or the permeability of the lung epithelium and serum CC16 is increased serum in acute or chronic lung disorders characterized by an increased airways permeability." []	1143119	\N	\N	EFO	3	EFO	information entity	CC16 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005080	"Quantification of the pneumoprotein CC16 or clara cell secreted protein . CC16 plays an important protective role in the respiratory tract against oxidative stress and inflammatory response. CC16 is used peripheral lung marker for assessing the cellular integrity or the permeability of the lung epithelium and serum CC16 is increased serum in acute or chronic lung disorders characterized by an increased airways permeability." []	2025836	\N	\N	EFO	4	EFO	experimental factor	CC16 measurement
EFO:0005081	\N	\N	"quantification of the pneumoprotein surfactant protein D. This protein is an innate immune protein and plays a role in pulmonary host defence and the modulation of allergic responses.  Several human lung diseases are characterized by decreased levels of bronchoalveolar SP-D." []	EFO:0005081	"quantification of the pneumoprotein surfactant protein D. This protein is an innate immune protein and plays a role in pulmonary host defence and the modulation of allergic responses.  Several human lung diseases are characterized by decreased levels of bronchoalveolar SP-D." []	66855	\N	\N	EFO	0	EFO	surfactant protein D measurement	surfactant protein D measurement
EFO:0006841	EFO:0005081	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0005081	"quantification of the pneumoprotein surfactant protein D. This protein is an innate immune protein and plays a role in pulmonary host defence and the modulation of allergic responses.  Several human lung diseases are characterized by decreased levels of bronchoalveolar SP-D." []	208206	\N	\N	EFO	1	EFO	respiratory disease biomarker	surfactant protein D measurement
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005081	"quantification of the pneumoprotein surfactant protein D. This protein is an innate immune protein and plays a role in pulmonary host defence and the modulation of allergic responses.  Several human lung diseases are characterized by decreased levels of bronchoalveolar SP-D." []	561367	\N	\N	EFO	2	EFO	measurement	surfactant protein D measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005081	"quantification of the pneumoprotein surfactant protein D. This protein is an innate immune protein and plays a role in pulmonary host defence and the modulation of allergic responses.  Several human lung diseases are characterized by decreased levels of bronchoalveolar SP-D." []	1143120	\N	\N	EFO	3	EFO	information entity	surfactant protein D measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005081	"quantification of the pneumoprotein surfactant protein D. This protein is an innate immune protein and plays a role in pulmonary host defence and the modulation of allergic responses.  Several human lung diseases are characterized by decreased levels of bronchoalveolar SP-D." []	2025837	\N	\N	EFO	4	EFO	experimental factor	surfactant protein D measurement
EFO:0005082	\N	\N	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol." []	EFO:0005082	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol." []	66856	\N	\N	EFO	0	EFO	Illumina Genome Analyzer standard manufacturer's protocol	Illumina Genome Analyzer standard manufacturer's protocol
EFO:0004170	EFO:0005082	\N	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	EFO:0005082	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol." []	208207	\N	\N	EFO	1	EFO	nucleic acid sequencing protocol	Illumina Genome Analyzer standard manufacturer's protocol
EFO:0004105	EFO:0004170	\N	"Sequencing library selection permitted in Atlas" []	EFO:0005082	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol." []	561368	\N	\N	EFO	2	EFO	seq library selection	Illumina Genome Analyzer standard manufacturer's protocol
OBI:0000272	EFO:0004170	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005082	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol." []	561369	\N	\N	EFO	2	EFO	protocol	Illumina Genome Analyzer standard manufacturer's protocol
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005082	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol." []	1143121	\N	\N	EFO	3	EFO	experimental process	Illumina Genome Analyzer standard manufacturer's protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005082	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol." []	1143122	\N	\N	EFO	3	EFO	information entity	Illumina Genome Analyzer standard manufacturer's protocol
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005082	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol." []	2025838	\N	\N	EFO	4	EFO	planned process	Illumina Genome Analyzer standard manufacturer's protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005082	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol." []	2025839	\N	\N	EFO	4	EFO	experimental factor	Illumina Genome Analyzer standard manufacturer's protocol
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005082	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol." []	3178307	\N	\N	EFO	5	EFO	process	Illumina Genome Analyzer standard manufacturer's protocol
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005082	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol." []	4388160	\N	\N	EFO	6	EFO	experimental factor	Illumina Genome Analyzer standard manufacturer's protocol
EFO:0005083	\N	\N	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol." []	EFO:0005083	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol." []	66857	\N	\N	EFO	0	EFO	Illumina Genome Analyzer II standard manufacturer's protocol	Illumina Genome Analyzer II standard manufacturer's protocol
EFO:0004170	EFO:0005083	\N	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	EFO:0005083	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol." []	208208	\N	\N	EFO	1	EFO	nucleic acid sequencing protocol	Illumina Genome Analyzer II standard manufacturer's protocol
EFO:0004105	EFO:0004170	\N	"Sequencing library selection permitted in Atlas" []	EFO:0005083	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol." []	561370	\N	\N	EFO	2	EFO	seq library selection	Illumina Genome Analyzer II standard manufacturer's protocol
OBI:0000272	EFO:0004170	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005083	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol." []	561371	\N	\N	EFO	2	EFO	protocol	Illumina Genome Analyzer II standard manufacturer's protocol
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005083	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol." []	1143123	\N	\N	EFO	3	EFO	experimental process	Illumina Genome Analyzer II standard manufacturer's protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005083	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol." []	1143124	\N	\N	EFO	3	EFO	information entity	Illumina Genome Analyzer II standard manufacturer's protocol
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005083	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol." []	2025840	\N	\N	EFO	4	EFO	planned process	Illumina Genome Analyzer II standard manufacturer's protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005083	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol." []	2025841	\N	\N	EFO	4	EFO	experimental factor	Illumina Genome Analyzer II standard manufacturer's protocol
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005083	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol." []	3178308	\N	\N	EFO	5	EFO	process	Illumina Genome Analyzer II standard manufacturer's protocol
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005083	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol." []	4388161	\N	\N	EFO	6	EFO	experimental factor	Illumina Genome Analyzer II standard manufacturer's protocol
EFO:0005084	\N	\N	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol." []	EFO:0005084	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol." []	66858	\N	\N	EFO	0	EFO	Illumina Genome Analyzer IIx standard manufacturer's protocol	Illumina Genome Analyzer IIx standard manufacturer's protocol
EFO:0004170	EFO:0005084	\N	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	EFO:0005084	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol." []	208209	\N	\N	EFO	1	EFO	nucleic acid sequencing protocol	Illumina Genome Analyzer IIx standard manufacturer's protocol
EFO:0004105	EFO:0004170	\N	"Sequencing library selection permitted in Atlas" []	EFO:0005084	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol." []	561372	\N	\N	EFO	2	EFO	seq library selection	Illumina Genome Analyzer IIx standard manufacturer's protocol
OBI:0000272	EFO:0004170	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005084	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol." []	561373	\N	\N	EFO	2	EFO	protocol	Illumina Genome Analyzer IIx standard manufacturer's protocol
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005084	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol." []	1143125	\N	\N	EFO	3	EFO	experimental process	Illumina Genome Analyzer IIx standard manufacturer's protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005084	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol." []	1143126	\N	\N	EFO	3	EFO	information entity	Illumina Genome Analyzer IIx standard manufacturer's protocol
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005084	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol." []	2025842	\N	\N	EFO	4	EFO	planned process	Illumina Genome Analyzer IIx standard manufacturer's protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005084	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol." []	2025843	\N	\N	EFO	4	EFO	experimental factor	Illumina Genome Analyzer IIx standard manufacturer's protocol
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005084	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol." []	3178309	\N	\N	EFO	5	EFO	process	Illumina Genome Analyzer IIx standard manufacturer's protocol
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005084	"The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol." []	4388162	\N	\N	EFO	6	EFO	experimental factor	Illumina Genome Analyzer IIx standard manufacturer's protocol
EFO:0005085	\N	\N	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol." []	EFO:0005085	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol." []	66859	\N	\N	EFO	0	EFO	Illumina HiSeq 1000 standard manufacturer's protocol	Illumina HiSeq 1000 standard manufacturer's protocol
EFO:0004170	EFO:0005085	\N	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	EFO:0005085	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol." []	208210	\N	\N	EFO	1	EFO	nucleic acid sequencing protocol	Illumina HiSeq 1000 standard manufacturer's protocol
EFO:0004105	EFO:0004170	\N	"Sequencing library selection permitted in Atlas" []	EFO:0005085	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol." []	561374	\N	\N	EFO	2	EFO	seq library selection	Illumina HiSeq 1000 standard manufacturer's protocol
OBI:0000272	EFO:0004170	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005085	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol." []	561375	\N	\N	EFO	2	EFO	protocol	Illumina HiSeq 1000 standard manufacturer's protocol
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005085	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol." []	1143127	\N	\N	EFO	3	EFO	experimental process	Illumina HiSeq 1000 standard manufacturer's protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005085	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol." []	1143128	\N	\N	EFO	3	EFO	information entity	Illumina HiSeq 1000 standard manufacturer's protocol
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005085	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol." []	2025844	\N	\N	EFO	4	EFO	planned process	Illumina HiSeq 1000 standard manufacturer's protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005085	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol." []	2025845	\N	\N	EFO	4	EFO	experimental factor	Illumina HiSeq 1000 standard manufacturer's protocol
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005085	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol." []	3178310	\N	\N	EFO	5	EFO	process	Illumina HiSeq 1000 standard manufacturer's protocol
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005085	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol." []	4388163	\N	\N	EFO	6	EFO	experimental factor	Illumina HiSeq 1000 standard manufacturer's protocol
EFO:0005086	\N	\N	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol." []	EFO:0005086	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol." []	66860	\N	\N	EFO	0	EFO	Illumina HiSeq 2000 standard manufacturer's protocol	Illumina HiSeq 2000 standard manufacturer's protocol
EFO:0004170	EFO:0005086	\N	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	EFO:0005086	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol." []	208211	\N	\N	EFO	1	EFO	nucleic acid sequencing protocol	Illumina HiSeq 2000 standard manufacturer's protocol
EFO:0004105	EFO:0004170	\N	"Sequencing library selection permitted in Atlas" []	EFO:0005086	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol." []	561376	\N	\N	EFO	2	EFO	seq library selection	Illumina HiSeq 2000 standard manufacturer's protocol
OBI:0000272	EFO:0004170	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005086	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol." []	561377	\N	\N	EFO	2	EFO	protocol	Illumina HiSeq 2000 standard manufacturer's protocol
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005086	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol." []	1143129	\N	\N	EFO	3	EFO	experimental process	Illumina HiSeq 2000 standard manufacturer's protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005086	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol." []	1143130	\N	\N	EFO	3	EFO	information entity	Illumina HiSeq 2000 standard manufacturer's protocol
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005086	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol." []	2025846	\N	\N	EFO	4	EFO	planned process	Illumina HiSeq 2000 standard manufacturer's protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005086	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol." []	2025847	\N	\N	EFO	4	EFO	experimental factor	Illumina HiSeq 2000 standard manufacturer's protocol
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005086	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol." []	3178311	\N	\N	EFO	5	EFO	process	Illumina HiSeq 2000 standard manufacturer's protocol
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005086	"The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol." []	4388164	\N	\N	EFO	6	EFO	experimental factor	Illumina HiSeq 2000 standard manufacturer's protocol
EFO:0005087	\N	\N	"The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol." []	EFO:0005087	"The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol." []	66861	\N	\N	EFO	0	EFO	Illumina MiSeq standard manufacturer's protocol	Illumina MiSeq standard manufacturer's protocol
EFO:0004170	EFO:0005087	\N	"A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample" []	EFO:0005087	"The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol." []	208212	\N	\N	EFO	1	EFO	nucleic acid sequencing protocol	Illumina MiSeq standard manufacturer's protocol
EFO:0004105	EFO:0004170	\N	"Sequencing library selection permitted in Atlas" []	EFO:0005087	"The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol." []	561378	\N	\N	EFO	2	EFO	seq library selection	Illumina MiSeq standard manufacturer's protocol
OBI:0000272	EFO:0004170	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005087	"The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol." []	561379	\N	\N	EFO	2	EFO	protocol	Illumina MiSeq standard manufacturer's protocol
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005087	"The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol." []	1143131	\N	\N	EFO	3	EFO	experimental process	Illumina MiSeq standard manufacturer's protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005087	"The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol." []	1143132	\N	\N	EFO	3	EFO	information entity	Illumina MiSeq standard manufacturer's protocol
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005087	"The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol." []	2025848	\N	\N	EFO	4	EFO	planned process	Illumina MiSeq standard manufacturer's protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005087	"The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol." []	2025849	\N	\N	EFO	4	EFO	experimental factor	Illumina MiSeq standard manufacturer's protocol
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005087	"The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol." []	3178312	\N	\N	EFO	5	EFO	process	Illumina MiSeq standard manufacturer's protocol
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005087	"The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol." []	4388165	\N	\N	EFO	6	EFO	experimental factor	Illumina MiSeq standard manufacturer's protocol
EFO:0005088	\N	\N	"A carcinoma affecting the testis." []	EFO:0005088	"A carcinoma affecting the testis." []	66862	\N	\N	EFO	0	EFO	testicular carcinoma	testicular carcinoma
EFO:0000313	EFO:0005088	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005088	"A carcinoma affecting the testis." []	208213	\N	\N	EFO	1	EFO	carcinoma	testicular carcinoma
EFO:0000512	EFO:0005088	\N	"any diease of the reproductive system" []	EFO:0005088	"A carcinoma affecting the testis." []	208214	\N	\N	EFO	1	EFO	reproductive system disease	testicular carcinoma
EFO:0003863	EFO:0005088	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0005088	"A carcinoma affecting the testis." []	208215	\N	\N	EFO	1	EFO	urogenital neoplasm	testicular carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005088	"A carcinoma affecting the testis." []	561380	\N	\N	EFO	2	EFO	cancer	testicular carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005088	"A carcinoma affecting the testis." []	561381	\N	\N	EFO	2	EFO	epithelial neoplasm	testicular carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005088	"A carcinoma affecting the testis." []	561382	\N	\N	EFO	2	EFO	disease	testicular carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005088	"A carcinoma affecting the testis." []	561383	\N	\N	EFO	2	EFO	neoplasm	testicular carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005088	"A carcinoma affecting the testis." []	1143133	\N	\N	EFO	3	EFO	neoplasm	testicular carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005088	"A carcinoma affecting the testis." []	1143134	\N	\N	EFO	3	EFO	neoplasm	testicular carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005088	"A carcinoma affecting the testis." []	2999615	\N	\N	EFO	5	EFO	disposition	testicular carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005088	"A carcinoma affecting the testis." []	2025850	\N	\N	EFO	4	EFO	disease	testicular carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005088	"A carcinoma affecting the testis." []	4066717	\N	\N	EFO	6	EFO	material property	testicular carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005088	"A carcinoma affecting the testis." []	5059353	\N	\N	EFO	7	EFO	experimental factor	testicular carcinoma
EFO:0005089	\N	\N	"quantification of the total volume of the brain" []	EFO:0005089	"quantification of the total volume of the brain" []	66863	\N	\N	EFO	0	EFO	whole-brain volume	whole-brain volume
EFO:0006930	EFO:0005089	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0005089	"quantification of the total volume of the brain" []	208216	\N	\N	EFO	1	EFO	brain volume measurement	whole-brain volume
EFO:0004464	EFO:0006930	\N	"" []	EFO:0005089	"quantification of the total volume of the brain" []	561384	\N	\N	EFO	2	EFO	brain measurement	whole-brain volume
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005089	"quantification of the total volume of the brain" []	1143137	\N	\N	EFO	3	EFO	measurement	whole-brain volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005089	"quantification of the total volume of the brain" []	2025853	\N	\N	EFO	4	EFO	information entity	whole-brain volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005089	"quantification of the total volume of the brain" []	3178314	\N	\N	EFO	5	EFO	experimental factor	whole-brain volume
EFO:0005090	\N	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0005090	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	66864	\N	\N	EFO	0	EFO	basophil count	basophil count
EFO:0004872	EFO:0005090	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0005090	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	208217	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	basophil count
EFO:0007987	EFO:0005090	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0005090	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	208218	\N	\N	EFO	1	EFO	granulocyte count	basophil count
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005090	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	561385	\N	\N	EFO	2	EFO	measurement	basophil count
EFO:0007988	EFO:0007987	\N	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0005090	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	561386	\N	\N	EFO	2	EFO	myeloid white cell count	basophil count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005090	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	4388166	\N	\N	EFO	6	EFO	information entity	basophil count
EFO:0004308	EFO:0007988	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0005090	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	1143139	\N	\N	EFO	3	EFO	leukocyte count	basophil count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005090	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	5028339	\N	\N	EFO	7	EFO	experimental factor	basophil count
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0005090	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	2025855	\N	\N	EFO	4	EFO	hematological measurement	basophil count
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005090	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	3178315	\N	\N	EFO	5	EFO	measurement	basophil count
EFO:0005091	\N	\N	"quantification of monocytes in the blood" []	EFO:0005091	"quantification of monocytes in the blood" []	66865	\N	\N	EFO	0	EFO	monocyte count	monocyte count
EFO:0004308	EFO:0005091	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0005091	"quantification of monocytes in the blood" []	208219	\N	\N	EFO	1	EFO	leukocyte count	monocyte count
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0005091	"quantification of monocytes in the blood" []	561387	\N	\N	EFO	2	EFO	hematological measurement	monocyte count
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005091	"quantification of monocytes in the blood" []	1143140	\N	\N	EFO	3	EFO	measurement	monocyte count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005091	"quantification of monocytes in the blood" []	2025856	\N	\N	EFO	4	EFO	information entity	monocyte count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005091	"quantification of monocytes in the blood" []	3178316	\N	\N	EFO	5	EFO	experimental factor	monocyte count
EFO:0005092	\N	\N	"quantification of the volume of the entorhinal cortex" []	EFO:0005092	"quantification of the volume of the entorhinal cortex" []	66866	\N	\N	EFO	0	EFO	entorhinal cortical volume	entorhinal cortical volume
EFO:0006930	EFO:0005092	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0005092	"quantification of the volume of the entorhinal cortex" []	208220	\N	\N	EFO	1	EFO	brain volume measurement	entorhinal cortical volume
EFO:0004464	EFO:0006930	\N	"" []	EFO:0005092	"quantification of the volume of the entorhinal cortex" []	561388	\N	\N	EFO	2	EFO	brain measurement	entorhinal cortical volume
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005092	"quantification of the volume of the entorhinal cortex" []	1143141	\N	\N	EFO	3	EFO	measurement	entorhinal cortical volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005092	"quantification of the volume of the entorhinal cortex" []	2025857	\N	\N	EFO	4	EFO	information entity	entorhinal cortical volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005092	"quantification of the volume of the entorhinal cortex" []	3178317	\N	\N	EFO	5	EFO	experimental factor	entorhinal cortical volume
EFO:0005093	\N	\N	"circumferential measurement of the largest part of the hip" []	EFO:0005093	"circumferential measurement of the largest part of the hip" []	66867	\N	\N	EFO	0	EFO	hip circumference	hip circumference
EFO:0004324	EFO:0005093	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0005093	"circumferential measurement of the largest part of the hip" []	208221	\N	\N	EFO	1	EFO	body weights and measures	hip circumference
EFO:0004512	EFO:0005093	\N	"" []	EFO:0005093	"circumferential measurement of the largest part of the hip" []	208222	\N	\N	EFO	1	EFO	bone measurement	hip circumference
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0005093	"circumferential measurement of the largest part of the hip" []	561389	\N	\N	EFO	2	EFO	anthropometric measurement	hip circumference
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005093	"circumferential measurement of the largest part of the hip" []	561390	\N	\N	EFO	2	EFO	measurement	hip circumference
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005093	"circumferential measurement of the largest part of the hip" []	1143142	\N	\N	EFO	3	EFO	measurement	hip circumference
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005093	"circumferential measurement of the largest part of the hip" []	2025858	\N	\N	EFO	4	EFO	information entity	hip circumference
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005093	"circumferential measurement of the largest part of the hip" []	2999616	\N	\N	EFO	5	EFO	experimental factor	hip circumference
EFO:0005094	\N	\N	"measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria." []	EFO:0005094	"measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria." []	66868	\N	\N	EFO	0	EFO	P wave duration	P wave duration
EFO:0004327	EFO:0005094	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0005094	"measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria." []	208223	\N	\N	EFO	1	EFO	electrocardiography	P wave duration
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0005094	"measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria." []	561391	\N	\N	EFO	2	EFO	heart function measurement	P wave duration
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005094	"measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria." []	1143144	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	P wave duration
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005094	"measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria." []	2025860	\N	\N	EFO	4	EFO	cardiovascular measurement	P wave duration
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005094	"measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria." []	3178318	\N	\N	EFO	5	EFO	measurement	P wave duration
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005094	"measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria." []	4388167	\N	\N	EFO	6	EFO	information entity	P wave duration
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005094	"measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria." []	5408781	\N	\N	EFO	7	EFO	experimental factor	P wave duration
EFO:0005095	\N	\N	"measurement of the interval from the offset of the P wave to the onset of the QRS wave complex" []	EFO:0005095	"measurement of the interval from the offset of the P wave to the onset of the QRS wave complex" []	66869	\N	\N	EFO	0	EFO	PR segment	PR segment
EFO:0004327	EFO:0005095	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0005095	"measurement of the interval from the offset of the P wave to the onset of the QRS wave complex" []	208224	\N	\N	EFO	1	EFO	electrocardiography	PR segment
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0005095	"measurement of the interval from the offset of the P wave to the onset of the QRS wave complex" []	561392	\N	\N	EFO	2	EFO	heart function measurement	PR segment
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005095	"measurement of the interval from the offset of the P wave to the onset of the QRS wave complex" []	1143145	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	PR segment
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005095	"measurement of the interval from the offset of the P wave to the onset of the QRS wave complex" []	2025861	\N	\N	EFO	4	EFO	cardiovascular measurement	PR segment
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005095	"measurement of the interval from the offset of the P wave to the onset of the QRS wave complex" []	3178319	\N	\N	EFO	5	EFO	measurement	PR segment
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005095	"measurement of the interval from the offset of the P wave to the onset of the QRS wave complex" []	4388168	\N	\N	EFO	6	EFO	information entity	PR segment
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005095	"measurement of the interval from the offset of the P wave to the onset of the QRS wave complex" []	5408782	\N	\N	EFO	7	EFO	experimental factor	PR segment
EFO:0005105	\N	\N	"quantification of some lipid or lipoprotein" []	EFO:0005105	"quantification of some lipid or lipoprotein" []	66870	\N	\N	EFO	0	EFO	lipid or lipoprotein measurement	lipid or lipoprotein measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005105	"quantification of some lipid or lipoprotein" []	208225	\N	\N	EFO	1	EFO	measurement	lipid or lipoprotein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005105	"quantification of some lipid or lipoprotein" []	561393	\N	\N	EFO	2	EFO	information entity	lipid or lipoprotein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005105	"quantification of some lipid or lipoprotein" []	1143146	\N	\N	EFO	3	EFO	experimental factor	lipid or lipoprotein measurement
EFO:0005106	\N	\N	"measurement of the percentages of fat, bone and muscle in human bodies" []	EFO:0005106	"measurement of the percentages of fat, bone and muscle in human bodies" []	66871	\N	\N	EFO	0	EFO	body composition measurement	body composition measurement
EFO:0004324	EFO:0005106	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0005106	"measurement of the percentages of fat, bone and muscle in human bodies" []	208226	\N	\N	EFO	1	EFO	body weights and measures	body composition measurement
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0005106	"measurement of the percentages of fat, bone and muscle in human bodies" []	561394	\N	\N	EFO	2	EFO	anthropometric measurement	body composition measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005106	"measurement of the percentages of fat, bone and muscle in human bodies" []	1143147	\N	\N	EFO	3	EFO	measurement	body composition measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005106	"measurement of the percentages of fat, bone and muscle in human bodies" []	2025862	\N	\N	EFO	4	EFO	information entity	body composition measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005106	"measurement of the percentages of fat, bone and muscle in human bodies" []	3178320	\N	\N	EFO	5	EFO	experimental factor	body composition measurement
EFO:0005108	\N	\N	"Distance between the tips of the longest fingers with the arms maximally outstretched laterally." []	EFO:0005108	"Distance between the tips of the longest fingers with the arms maximally outstretched laterally." []	66872	\N	\N	EFO	0	EFO	arm span	arm span
EFO:0004324	EFO:0005108	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0005108	"Distance between the tips of the longest fingers with the arms maximally outstretched laterally." []	208227	\N	\N	EFO	1	EFO	body weights and measures	arm span
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0005108	"Distance between the tips of the longest fingers with the arms maximally outstretched laterally." []	561395	\N	\N	EFO	2	EFO	anthropometric measurement	arm span
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005108	"Distance between the tips of the longest fingers with the arms maximally outstretched laterally." []	1143148	\N	\N	EFO	3	EFO	measurement	arm span
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005108	"Distance between the tips of the longest fingers with the arms maximally outstretched laterally." []	2025863	\N	\N	EFO	4	EFO	information entity	arm span
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005108	"Distance between the tips of the longest fingers with the arms maximally outstretched laterally." []	3178321	\N	\N	EFO	5	EFO	experimental factor	arm span
EFO:0005109	\N	\N	"energy expenditure is generally considered to be the sum of internal heat produced and external work through physical activity" []	EFO:0005109	"energy expenditure is generally considered to be the sum of internal heat produced and external work through physical activity" []	66873	\N	\N	EFO	0	EFO	energy expenditure	energy expenditure
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	EFO:0005109	"energy expenditure is generally considered to be the sum of internal heat produced and external work through physical activity" []	194689	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	energy expenditure
EFO:0005110	\N	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0005110	"The determination of the amount of fatty acids present in a sample." []	66874	\N	\N	EFO	0	EFO	fatty acid measurement	fatty acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0005110	"The determination of the amount of fatty acids present in a sample." []	208228	\N	\N	EFO	1	EFO	lipid measurement	fatty acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0005110	"The determination of the amount of fatty acids present in a sample." []	561396	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	fatty acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005110	"The determination of the amount of fatty acids present in a sample." []	1143149	\N	\N	EFO	3	EFO	measurement	fatty acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005110	"The determination of the amount of fatty acids present in a sample." []	2025864	\N	\N	EFO	4	EFO	information entity	fatty acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005110	"The determination of the amount of fatty acids present in a sample." []	3178322	\N	\N	EFO	5	EFO	experimental factor	fatty acid measurement
EFO:0005111	\N	\N	"A measurement of the folic acid in a biological sample" []	EFO:0005111	"A measurement of the folic acid in a biological sample" []	66875	\N	\N	EFO	0	EFO	folic acid measurement	folic acid measurement
EFO:0001444	EFO:0005111	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005111	"A measurement of the folic acid in a biological sample" []	208229	\N	\N	EFO	1	EFO	measurement	folic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005111	"A measurement of the folic acid in a biological sample" []	561397	\N	\N	EFO	2	EFO	information entity	folic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005111	"A measurement of the folic acid in a biological sample" []	1143150	\N	\N	EFO	3	EFO	experimental factor	folic acid measurement
EFO:0005112	\N	\N	"The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization." []	EFO:0005112	"The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization." []	66876	\N	\N	EFO	0	EFO	gestational age	gestational age
EFO:0000246	EFO:0005112	\N	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	EFO:0005112	"The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization." []	208230	\N	\N	EFO	1	EFO	age	gestational age
EFO:0000719	EFO:0000246	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0005112	"The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization." []	561398	\N	\N	EFO	2	EFO	temporal measurement	gestational age
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005112	"The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization." []	1143151	\N	\N	EFO	3	EFO	measurement	gestational age
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005112	"The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization." []	2025865	\N	\N	EFO	4	EFO	information entity	gestational age
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005112	"The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization." []	3178323	\N	\N	EFO	5	EFO	experimental factor	gestational age
EFO:0005114	\N	\N	"A circumferential measurement of the head at the widest point, which is traditionally above the eyebrow" []	EFO:0005114	"A circumferential measurement of the head at the widest point, which is traditionally above the eyebrow" []	66877	\N	\N	EFO	0	EFO	head circumference	head circumference
EFO:0004324	EFO:0005114	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0005114	"A circumferential measurement of the head at the widest point, which is traditionally above the eyebrow" []	208231	\N	\N	EFO	1	EFO	body weights and measures	head circumference
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0005114	"A circumferential measurement of the head at the widest point, which is traditionally above the eyebrow" []	561399	\N	\N	EFO	2	EFO	anthropometric measurement	head circumference
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005114	"A circumferential measurement of the head at the widest point, which is traditionally above the eyebrow" []	1143152	\N	\N	EFO	3	EFO	measurement	head circumference
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005114	"A circumferential measurement of the head at the widest point, which is traditionally above the eyebrow" []	2025866	\N	\N	EFO	4	EFO	information entity	head circumference
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005114	"A circumferential measurement of the head at the widest point, which is traditionally above the eyebrow" []	3178324	\N	\N	EFO	5	EFO	experimental factor	head circumference
EFO:0005115	\N	\N	"a quantification of metabolic rate" []	EFO:0005115	"a quantification of metabolic rate" []	66878	\N	\N	EFO	0	EFO	metabolic rate measurement	metabolic rate measurement
EFO:0001444	EFO:0005115	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005115	"a quantification of metabolic rate" []	208232	\N	\N	EFO	1	EFO	measurement	metabolic rate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005115	"a quantification of metabolic rate" []	561400	\N	\N	EFO	2	EFO	information entity	metabolic rate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005115	"a quantification of metabolic rate" []	1143153	\N	\N	EFO	3	EFO	experimental factor	metabolic rate measurement
EFO:0005116	\N	\N	"quantification of some metabolite in urine" []	EFO:0005116	"quantification of some metabolite in urine" []	66879	\N	\N	EFO	0	EFO	urinary metabolite measurement	urinary metabolite measurement
EFO:0004725	EFO:0005116	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0005116	"quantification of some metabolite in urine" []	208233	\N	\N	EFO	1	EFO	metabolite measurement	urinary metabolite measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005116	"quantification of some metabolite in urine" []	561401	\N	\N	EFO	2	EFO	measurement	urinary metabolite measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005116	"quantification of some metabolite in urine" []	1143154	\N	\N	EFO	3	EFO	information entity	urinary metabolite measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005116	"quantification of some metabolite in urine" []	2025867	\N	\N	EFO	4	EFO	experimental factor	urinary metabolite measurement
EFO:0005117	\N	\N	"Is the quantification of Chemokine (C-C motif) ligand 5. \\nCCL5 is a Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).\\n" []	EFO:0005117	"Is the quantification of Chemokine (C-C motif) ligand 5. \\nCCL5 is a Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).\\n" []	66880	\N	\N	EFO	0	EFO	CCL5 measurement	CCL5 measurement
EFO:0004872	EFO:0005117	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0005117	"Is the quantification of Chemokine (C-C motif) ligand 5. \\nCCL5 is a Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).\\n" []	208234	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	CCL5 measurement
EFO:0004873	EFO:0005117	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0005117	"Is the quantification of Chemokine (C-C motif) ligand 5. \\nCCL5 is a Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).\\n" []	208235	\N	\N	EFO	1	EFO	cytokine measurement	CCL5 measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005117	"Is the quantification of Chemokine (C-C motif) ligand 5. \\nCCL5 is a Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).\\n" []	561402	\N	\N	EFO	2	EFO	measurement	CCL5 measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005117	"Is the quantification of Chemokine (C-C motif) ligand 5. \\nCCL5 is a Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).\\n" []	561403	\N	\N	EFO	2	EFO	protein measurement	CCL5 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005117	"Is the quantification of Chemokine (C-C motif) ligand 5. \\nCCL5 is a Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).\\n" []	2025869	\N	\N	EFO	4	EFO	information entity	CCL5 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005117	"Is the quantification of Chemokine (C-C motif) ligand 5. \\nCCL5 is a Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).\\n" []	1143156	\N	\N	EFO	3	EFO	measurement	CCL5 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005117	"Is the quantification of Chemokine (C-C motif) ligand 5. \\nCCL5 is a Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).\\n" []	2999617	\N	\N	EFO	5	EFO	experimental factor	CCL5 measurement
EFO:0005118	\N	\N	"IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Promotes cell migration." []	EFO:0005118	"IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Promotes cell migration." []	66881	\N	\N	EFO	0	EFO	IGFBP-1 measurement	IGFBP-1 measurement
EFO:0001444	EFO:0005118	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005118	"IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Promotes cell migration." []	208236	\N	\N	EFO	1	EFO	measurement	IGFBP-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005118	"IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Promotes cell migration." []	561404	\N	\N	EFO	2	EFO	information entity	IGFBP-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005118	"IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Promotes cell migration." []	1143157	\N	\N	EFO	3	EFO	experimental factor	IGFBP-1 measurement
EFO:0005119	\N	\N	"quantification of some antioxidant in a biological sample" []	EFO:0005119	"quantification of some antioxidant in a biological sample" []	66882	\N	\N	EFO	0	EFO	antioxidant measurement	antioxidant measurement
EFO:0001444	EFO:0005119	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005119	"quantification of some antioxidant in a biological sample" []	208237	\N	\N	EFO	1	EFO	measurement	antioxidant measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005119	"quantification of some antioxidant in a biological sample" []	561405	\N	\N	EFO	2	EFO	information entity	antioxidant measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005119	"quantification of some antioxidant in a biological sample" []	1143158	\N	\N	EFO	3	EFO	experimental factor	antioxidant measurement
EFO:0005121	\N	\N	"a specimen which is the output of some freeze drying process applied with the aim of perserving the specimen" []	EFO:0005121	"a specimen which is the output of some freeze drying process applied with the aim of perserving the specimen" []	66883	\N	\N	EFO	0	EFO	freeze dried specimen	freeze dried specimen
OBI:0100051	EFO:0005121	\N	"A material which is obtained and stored for potential use during an investigation." []	EFO:0005121	"a specimen which is the output of some freeze drying process applied with the aim of perserving the specimen" []	208238	\N	\N	EFO	1	EFO	specimen	freeze dried specimen
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005121	"a specimen which is the output of some freeze drying process applied with the aim of perserving the specimen" []	561406	\N	\N	EFO	2	EFO	material entity	freeze dried specimen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005121	"a specimen which is the output of some freeze drying process applied with the aim of perserving the specimen" []	1143159	\N	\N	EFO	3	EFO	experimental factor	freeze dried specimen
EFO:0005125	\N	\N	"a specimen which has been treated with RNAlater, with the aim of preserving specimen RNA prior to extraction" []	EFO:0005125	"a specimen which has been treated with RNAlater, with the aim of preserving specimen RNA prior to extraction" []	66884	\N	\N	EFO	0	EFO	RNAlater specimen	RNAlater specimen
OBI:0100051	EFO:0005125	\N	"A material which is obtained and stored for potential use during an investigation." []	EFO:0005125	"a specimen which has been treated with RNAlater, with the aim of preserving specimen RNA prior to extraction" []	208239	\N	\N	EFO	1	EFO	specimen	RNAlater specimen
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005125	"a specimen which has been treated with RNAlater, with the aim of preserving specimen RNA prior to extraction" []	561407	\N	\N	EFO	2	EFO	material entity	RNAlater specimen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005125	"a specimen which has been treated with RNAlater, with the aim of preserving specimen RNA prior to extraction" []	1143160	\N	\N	EFO	3	EFO	experimental factor	RNAlater specimen
EFO:0005126	\N	\N	"quantification of the activity of enzymes from the arylesterase family. Low measurements have been associated with cardiovascular risk - http://europepmc.org/abstract/MED/22982463" []	EFO:0005126	"quantification of the activity of enzymes from the arylesterase family. Low measurements have been associated with cardiovascular risk - http://europepmc.org/abstract/MED/22982463" []	66885	\N	\N	EFO	0	EFO	arylesterase enzyme measurement	arylesterase enzyme measurement
EFO:0004747	EFO:0005126	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005126	"quantification of the activity of enzymes from the arylesterase family. Low measurements have been associated with cardiovascular risk - http://europepmc.org/abstract/MED/22982463" []	208240	\N	\N	EFO	1	EFO	protein measurement	arylesterase enzyme measurement
EFO:0005278	EFO:0005126	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005126	"quantification of the activity of enzymes from the arylesterase family. Low measurements have been associated with cardiovascular risk - http://europepmc.org/abstract/MED/22982463" []	208241	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	arylesterase enzyme measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005126	"quantification of the activity of enzymes from the arylesterase family. Low measurements have been associated with cardiovascular risk - http://europepmc.org/abstract/MED/22982463" []	561408	\N	\N	EFO	2	EFO	measurement	arylesterase enzyme measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005126	"quantification of the activity of enzymes from the arylesterase family. Low measurements have been associated with cardiovascular risk - http://europepmc.org/abstract/MED/22982463" []	561409	\N	\N	EFO	2	EFO	cardiovascular measurement	arylesterase enzyme measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005126	"quantification of the activity of enzymes from the arylesterase family. Low measurements have been associated with cardiovascular risk - http://europepmc.org/abstract/MED/22982463" []	2025871	\N	\N	EFO	4	EFO	information entity	arylesterase enzyme measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005126	"quantification of the activity of enzymes from the arylesterase family. Low measurements have been associated with cardiovascular risk - http://europepmc.org/abstract/MED/22982463" []	1143162	\N	\N	EFO	3	EFO	measurement	arylesterase enzyme measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005126	"quantification of the activity of enzymes from the arylesterase family. Low measurements have been associated with cardiovascular risk - http://europepmc.org/abstract/MED/22982463" []	2999618	\N	\N	EFO	5	EFO	experimental factor	arylesterase enzyme measurement
EFO:0005127	\N	\N	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	EFO:0005127	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	66886	\N	\N	EFO	0	EFO	cancer biomarker measurement	cancer biomarker measurement
EFO:0001444	EFO:0005127	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005127	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	208242	\N	\N	EFO	1	EFO	measurement	cancer biomarker measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005127	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	561410	\N	\N	EFO	2	EFO	information entity	cancer biomarker measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005127	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	1143163	\N	\N	EFO	3	EFO	experimental factor	cancer biomarker measurement
EFO:0005128	\N	\N	"quantification of the ratio of the protein albumin to globulin in the blood serum" []	EFO:0005128	"quantification of the ratio of the protein albumin to globulin in the blood serum" []	66887	\N	\N	EFO	0	EFO	albumin:globulin ratio measurement	albumin:globulin ratio measurement
EFO:0004503	EFO:0005128	\N	"A measurement quantifying some blood cell, or component." []	EFO:0005128	"quantification of the ratio of the protein albumin to globulin in the blood serum" []	208243	\N	\N	EFO	1	EFO	hematological measurement	albumin:globulin ratio measurement
EFO:0004747	EFO:0005128	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005128	"quantification of the ratio of the protein albumin to globulin in the blood serum" []	208244	\N	\N	EFO	1	EFO	protein measurement	albumin:globulin ratio measurement
EFO:0006845	EFO:0005128	\N	"The quantification of biomarkers used in the diagnosis or management of liver disease" []	EFO:0005128	"quantification of the ratio of the protein albumin to globulin in the blood serum" []	208245	\N	\N	EFO	1	EFO	liver disease biomarker	albumin:globulin ratio measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005128	"quantification of the ratio of the protein albumin to globulin in the blood serum" []	561411	\N	\N	EFO	2	EFO	measurement	albumin:globulin ratio measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005128	"quantification of the ratio of the protein albumin to globulin in the blood serum" []	561412	\N	\N	EFO	2	EFO	measurement	albumin:globulin ratio measurement
EFO:0001444	EFO:0006845	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005128	"quantification of the ratio of the protein albumin to globulin in the blood serum" []	561413	\N	\N	EFO	2	EFO	measurement	albumin:globulin ratio measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005128	"quantification of the ratio of the protein albumin to globulin in the blood serum" []	1143164	\N	\N	EFO	3	EFO	information entity	albumin:globulin ratio measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005128	"quantification of the ratio of the protein albumin to globulin in the blood serum" []	2025872	\N	\N	EFO	4	EFO	experimental factor	albumin:globulin ratio measurement
EFO:0005129	\N	\N	"liver injury resulting from hepatitis C infection" []	EFO:0005129	"liver injury resulting from hepatitis C infection" []	66888	\N	\N	EFO	0	EFO	hepatitis C induced liver cirrhosis	hepatitis C induced liver cirrhosis
EFO:0001421	EFO:0005129	\N	"Pathological processes of the LIVER." []	EFO:0005129	"liver injury resulting from hepatitis C infection" []	208246	\N	\N	EFO	1	EFO	liver disease	hepatitis C induced liver cirrhosis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005129	"liver injury resulting from hepatitis C infection" []	561414	\N	\N	EFO	2	EFO	digestive system disease	hepatitis C induced liver cirrhosis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0005129	"liver injury resulting from hepatitis C infection" []	561415	\N	\N	EFO	2	EFO	endocrine system disease	hepatitis C induced liver cirrhosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005129	"liver injury resulting from hepatitis C infection" []	1143165	\N	\N	EFO	3	EFO	disease	hepatitis C induced liver cirrhosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005129	"liver injury resulting from hepatitis C infection" []	1143166	\N	\N	EFO	3	EFO	disease	hepatitis C induced liver cirrhosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005129	"liver injury resulting from hepatitis C infection" []	2025873	\N	\N	EFO	4	EFO	disposition	hepatitis C induced liver cirrhosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005129	"liver injury resulting from hepatitis C infection" []	3178325	\N	\N	EFO	5	EFO	material property	hepatitis C induced liver cirrhosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005129	"liver injury resulting from hepatitis C infection" []	4388169	\N	\N	EFO	6	EFO	experimental factor	hepatitis C induced liver cirrhosis
EFO:0005130	\N	\N	"quantification of the thyroid hormone thyroxine (T4) in the blood, usually as an indicator of thyroid function" []	EFO:0005130	"quantification of the thyroid hormone thyroxine (T4) in the blood, usually as an indicator of thyroid function" []	66889	\N	\N	EFO	0	EFO	thyroxine measurement	thyroxine measurement
EFO:0004730	EFO:0005130	\N	"" []	EFO:0005130	"quantification of the thyroid hormone thyroxine (T4) in the blood, usually as an indicator of thyroid function" []	208247	\N	\N	EFO	1	EFO	hormone measurement	thyroxine measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005130	"quantification of the thyroid hormone thyroxine (T4) in the blood, usually as an indicator of thyroid function" []	561416	\N	\N	EFO	2	EFO	measurement	thyroxine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005130	"quantification of the thyroid hormone thyroxine (T4) in the blood, usually as an indicator of thyroid function" []	1143167	\N	\N	EFO	3	EFO	information entity	thyroxine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005130	"quantification of the thyroid hormone thyroxine (T4) in the blood, usually as an indicator of thyroid function" []	2025874	\N	\N	EFO	4	EFO	experimental factor	thyroxine measurement
EFO:0005131	\N	\N	"quantification of homovanillic acid in cerebrospinal fluid" []	EFO:0005131	"quantification of homovanillic acid in cerebrospinal fluid" []	66890	\N	\N	EFO	0	EFO	HVA measurement	HVA measurement
EFO:0006848	EFO:0005131	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0005131	"quantification of homovanillic acid in cerebrospinal fluid" []	208248	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	HVA measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005131	"quantification of homovanillic acid in cerebrospinal fluid" []	561417	\N	\N	EFO	2	EFO	measurement	HVA measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005131	"quantification of homovanillic acid in cerebrospinal fluid" []	1143168	\N	\N	EFO	3	EFO	information entity	HVA measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005131	"quantification of homovanillic acid in cerebrospinal fluid" []	2025875	\N	\N	EFO	4	EFO	experimental factor	HVA measurement
EFO:0005132	\N	\N	"quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid or urine. 5-HIAA is a metabolite of serotonin.\\n This measurement is performed during diagnosis of serotonin secreting neuroendocrine tumours. \\nLow levels of 5-HIAA in the cerebrospinal fluid have been associated with aggressive behavior and suicide by violent means, correlating with diminished serotonin levels.\\nElevated serotonin (hyperserotonemia) is one of the most common biological findings in autism[3] and 5-HIAA may be elevated in patients with autistic spectrum disorders." []	EFO:0005132	"quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid or urine. 5-HIAA is a metabolite of serotonin.\\n This measurement is performed during diagnosis of serotonin secreting neuroendocrine tumours. \\nLow levels of 5-HIAA in the cerebrospinal fluid have been associated with aggressive behavior and suicide by violent means, correlating with diminished serotonin levels.\\nElevated serotonin (hyperserotonemia) is one of the most common biological findings in autism[3] and 5-HIAA may be elevated in patients with autistic spectrum disorders." []	66891	\N	\N	EFO	0	EFO	5-HIAA measurement	5-HIAA measurement
EFO:0004725	EFO:0005132	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0005132	"quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid or urine. 5-HIAA is a metabolite of serotonin.\\n This measurement is performed during diagnosis of serotonin secreting neuroendocrine tumours. \\nLow levels of 5-HIAA in the cerebrospinal fluid have been associated with aggressive behavior and suicide by violent means, correlating with diminished serotonin levels.\\nElevated serotonin (hyperserotonemia) is one of the most common biological findings in autism[3] and 5-HIAA may be elevated in patients with autistic spectrum disorders." []	208249	\N	\N	EFO	1	EFO	metabolite measurement	5-HIAA measurement
EFO:0005127	EFO:0005132	\N	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	EFO:0005132	"quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid or urine. 5-HIAA is a metabolite of serotonin.\\n This measurement is performed during diagnosis of serotonin secreting neuroendocrine tumours. \\nLow levels of 5-HIAA in the cerebrospinal fluid have been associated with aggressive behavior and suicide by violent means, correlating with diminished serotonin levels.\\nElevated serotonin (hyperserotonemia) is one of the most common biological findings in autism[3] and 5-HIAA may be elevated in patients with autistic spectrum disorders." []	208250	\N	\N	EFO	1	EFO	cancer biomarker measurement	5-HIAA measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005132	"quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid or urine. 5-HIAA is a metabolite of serotonin.\\n This measurement is performed during diagnosis of serotonin secreting neuroendocrine tumours. \\nLow levels of 5-HIAA in the cerebrospinal fluid have been associated with aggressive behavior and suicide by violent means, correlating with diminished serotonin levels.\\nElevated serotonin (hyperserotonemia) is one of the most common biological findings in autism[3] and 5-HIAA may be elevated in patients with autistic spectrum disorders." []	561418	\N	\N	EFO	2	EFO	measurement	5-HIAA measurement
EFO:0001444	EFO:0005127	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005132	"quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid or urine. 5-HIAA is a metabolite of serotonin.\\n This measurement is performed during diagnosis of serotonin secreting neuroendocrine tumours. \\nLow levels of 5-HIAA in the cerebrospinal fluid have been associated with aggressive behavior and suicide by violent means, correlating with diminished serotonin levels.\\nElevated serotonin (hyperserotonemia) is one of the most common biological findings in autism[3] and 5-HIAA may be elevated in patients with autistic spectrum disorders." []	561419	\N	\N	EFO	2	EFO	measurement	5-HIAA measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005132	"quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid or urine. 5-HIAA is a metabolite of serotonin.\\n This measurement is performed during diagnosis of serotonin secreting neuroendocrine tumours. \\nLow levels of 5-HIAA in the cerebrospinal fluid have been associated with aggressive behavior and suicide by violent means, correlating with diminished serotonin levels.\\nElevated serotonin (hyperserotonemia) is one of the most common biological findings in autism[3] and 5-HIAA may be elevated in patients with autistic spectrum disorders." []	1143169	\N	\N	EFO	3	EFO	information entity	5-HIAA measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005132	"quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid or urine. 5-HIAA is a metabolite of serotonin.\\n This measurement is performed during diagnosis of serotonin secreting neuroendocrine tumours. \\nLow levels of 5-HIAA in the cerebrospinal fluid have been associated with aggressive behavior and suicide by violent means, correlating with diminished serotonin levels.\\nElevated serotonin (hyperserotonemia) is one of the most common biological findings in autism[3] and 5-HIAA may be elevated in patients with autistic spectrum disorders." []	2025876	\N	\N	EFO	4	EFO	experimental factor	5-HIAA measurement
EFO:0005133	\N	\N	"quantification of 3-methoxy-4-hydroxyphenylglycol in measured in urine, plasma or cerebrospinal fluid. MHPG is reported to be associated with neuropsychiatric disorders." []	EFO:0005133	"quantification of 3-methoxy-4-hydroxyphenylglycol in measured in urine, plasma or cerebrospinal fluid. MHPG is reported to be associated with neuropsychiatric disorders." []	66892	\N	\N	EFO	0	EFO	MHPG measurement	MHPG measurement
EFO:0006848	EFO:0005133	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0005133	"quantification of 3-methoxy-4-hydroxyphenylglycol in measured in urine, plasma or cerebrospinal fluid. MHPG is reported to be associated with neuropsychiatric disorders." []	208251	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	MHPG measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005133	"quantification of 3-methoxy-4-hydroxyphenylglycol in measured in urine, plasma or cerebrospinal fluid. MHPG is reported to be associated with neuropsychiatric disorders." []	561420	\N	\N	EFO	2	EFO	measurement	MHPG measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005133	"quantification of 3-methoxy-4-hydroxyphenylglycol in measured in urine, plasma or cerebrospinal fluid. MHPG is reported to be associated with neuropsychiatric disorders." []	1143170	\N	\N	EFO	3	EFO	information entity	MHPG measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005133	"quantification of 3-methoxy-4-hydroxyphenylglycol in measured in urine, plasma or cerebrospinal fluid. MHPG is reported to be associated with neuropsychiatric disorders." []	2025877	\N	\N	EFO	4	EFO	experimental factor	MHPG measurement
EFO:0005134	\N	\N	"quantification of some amino acid in a biological assay" []	EFO:0005134	"quantification of some amino acid in a biological assay" []	66893	\N	\N	EFO	0	EFO	amino acid measurement	amino acid measurement
EFO:0001444	EFO:0005134	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005134	"quantification of some amino acid in a biological assay" []	208252	\N	\N	EFO	1	EFO	measurement	amino acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005134	"quantification of some amino acid in a biological assay" []	561421	\N	\N	EFO	2	EFO	information entity	amino acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005134	"quantification of some amino acid in a biological assay" []	1143171	\N	\N	EFO	3	EFO	experimental factor	amino acid measurement
EFO:0005135	\N	\N	"A population of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics." []	EFO:0005135	"A population of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics." []	66894	\N	\N	EFO	0	EFO	strain	strain
OBI:0000181	EFO:0005135	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0005135	"A population of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics." []	208253	\N	\N	EFO	1	EFO	population	strain
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005135	"A population of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics." []	561422	\N	\N	EFO	2	EFO	material entity	strain
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005135	"A population of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics." []	1143172	\N	\N	EFO	3	EFO	experimental factor	strain
EFO:0005136	\N	\N	"A cultivated plant variety selected and given a name because it has desirable characteristics that distinguish it from otherwise similar plants of the same species." []	EFO:0005136	"A cultivated plant variety selected and given a name because it has desirable characteristics that distinguish it from otherwise similar plants of the same species." []	66895	\N	\N	EFO	0	EFO	cultivar	cultivar
OBI:0000181	EFO:0005136	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0005136	"A cultivated plant variety selected and given a name because it has desirable characteristics that distinguish it from otherwise similar plants of the same species." []	208254	\N	\N	EFO	1	EFO	population	cultivar
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005136	"A cultivated plant variety selected and given a name because it has desirable characteristics that distinguish it from otherwise similar plants of the same species." []	561423	\N	\N	EFO	2	EFO	material entity	cultivar
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005136	"A cultivated plant variety selected and given a name because it has desirable characteristics that distinguish it from otherwise similar plants of the same species." []	1143173	\N	\N	EFO	3	EFO	experimental factor	cultivar
EFO:0005137	\N	\N	"A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" []	EFO:0005137	"A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" []	66896	\N	\N	EFO	0	EFO	conduction system disorder	conduction system disorder
EFO:0003777	EFO:0005137	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005137	"A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" []	208255	\N	\N	EFO	1	EFO	heart disease	conduction system disorder
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005137	"A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" []	561424	\N	\N	EFO	2	EFO	cardiovascular disease	conduction system disorder
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005137	"A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" []	1143174	\N	\N	EFO	3	EFO	disease	conduction system disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005137	"A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" []	2025878	\N	\N	EFO	4	EFO	disposition	conduction system disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005137	"A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" []	3178326	\N	\N	EFO	5	EFO	material property	conduction system disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005137	"A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" []	4388170	\N	\N	EFO	6	EFO	experimental factor	conduction system disorder
EFO:0005138	\N	\N	"A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome." []	EFO:0005138	"A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome." []	66897	\N	\N	EFO	0	EFO	acquired long QT syndrome	acquired long QT syndrome
EFO:0005137	EFO:0005138	\N	"A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" []	EFO:0005138	"A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome." []	208256	\N	\N	EFO	1	EFO	conduction system disorder	acquired long QT syndrome
EFO:0003777	EFO:0005137	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005138	"A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome." []	561425	\N	\N	EFO	2	EFO	heart disease	acquired long QT syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005138	"A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome." []	1143175	\N	\N	EFO	3	EFO	cardiovascular disease	acquired long QT syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005138	"A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome." []	2025879	\N	\N	EFO	4	EFO	disease	acquired long QT syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005138	"A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome." []	3178327	\N	\N	EFO	5	EFO	disposition	acquired long QT syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005138	"A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome." []	4388171	\N	\N	EFO	6	EFO	material property	acquired long QT syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005138	"A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome." []	5408783	\N	\N	EFO	7	EFO	experimental factor	acquired long QT syndrome
EFO:0005139	\N	\N	"Quantification of some ceruloplasmin in the blood. Ceruloplasmin is a copper containing enzyme synthesized in tge liver that plays a role in iron metabolism and Copper ion transport. It is measured in combination with copper tests in the diagnosis of Wilson's disease. Ceruloplasmin is a copper containing enzyme that plays a role in iron metabolism measured in combination with copper tests in the diagnosis of Wilson's disease." []	EFO:0005139	"Quantification of some ceruloplasmin in the blood. Ceruloplasmin is a copper containing enzyme synthesized in tge liver that plays a role in iron metabolism and Copper ion transport. It is measured in combination with copper tests in the diagnosis of Wilson's disease. Ceruloplasmin is a copper containing enzyme that plays a role in iron metabolism measured in combination with copper tests in the diagnosis of Wilson's disease." []	66898	\N	\N	EFO	0	EFO	serum ceruloplasmin measurement	serum ceruloplasmin measurement
EFO:0004747	EFO:0005139	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005139	"Quantification of some ceruloplasmin in the blood. Ceruloplasmin is a copper containing enzyme synthesized in tge liver that plays a role in iron metabolism and Copper ion transport. It is measured in combination with copper tests in the diagnosis of Wilson's disease. Ceruloplasmin is a copper containing enzyme that plays a role in iron metabolism measured in combination with copper tests in the diagnosis of Wilson's disease." []	208257	\N	\N	EFO	1	EFO	protein measurement	serum ceruloplasmin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005139	"Quantification of some ceruloplasmin in the blood. Ceruloplasmin is a copper containing enzyme synthesized in tge liver that plays a role in iron metabolism and Copper ion transport. It is measured in combination with copper tests in the diagnosis of Wilson's disease. Ceruloplasmin is a copper containing enzyme that plays a role in iron metabolism measured in combination with copper tests in the diagnosis of Wilson's disease." []	561426	\N	\N	EFO	2	EFO	measurement	serum ceruloplasmin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005139	"Quantification of some ceruloplasmin in the blood. Ceruloplasmin is a copper containing enzyme synthesized in tge liver that plays a role in iron metabolism and Copper ion transport. It is measured in combination with copper tests in the diagnosis of Wilson's disease. Ceruloplasmin is a copper containing enzyme that plays a role in iron metabolism measured in combination with copper tests in the diagnosis of Wilson's disease." []	1143176	\N	\N	EFO	3	EFO	information entity	serum ceruloplasmin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005139	"Quantification of some ceruloplasmin in the blood. Ceruloplasmin is a copper containing enzyme synthesized in tge liver that plays a role in iron metabolism and Copper ion transport. It is measured in combination with copper tests in the diagnosis of Wilson's disease. Ceruloplasmin is a copper containing enzyme that plays a role in iron metabolism measured in combination with copper tests in the diagnosis of Wilson's disease." []	2025880	\N	\N	EFO	4	EFO	experimental factor	serum ceruloplasmin measurement
EFO:0005140	\N	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005140	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	66899	\N	\N	EFO	0	EFO	autoimmune disease	autoimmune disease
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005140	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	208258	\N	\N	EFO	1	EFO	immune system disease	autoimmune disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005140	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	561427	\N	\N	EFO	2	EFO	disease	autoimmune disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005140	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	1143177	\N	\N	EFO	3	EFO	disposition	autoimmune disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005140	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	2025881	\N	\N	EFO	4	EFO	material property	autoimmune disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005140	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	3178328	\N	\N	EFO	5	EFO	experimental factor	autoimmune disease
EFO:0005147	\N	\N	"The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative." []	EFO:0005147	"The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative." []	66900	\N	\N	EFO	0	EFO	Columbia ecotype	Columbia ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0005147	"The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative." []	194690	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Columbia ecotype
EFO:0005148	\N	\N	"Col-0 is an Arabidopsis ecotype and a direct descendant of Col-1 donated via AIS." []	EFO:0005148	"Col-0 is an Arabidopsis ecotype and a direct descendant of Col-1 donated via AIS." []	66901	\N	\N	EFO	0	EFO	Col-0	Col-0
EFO:0005147	EFO:0005148	\N	"The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative." []	EFO:0005148	"Col-0 is an Arabidopsis ecotype and a direct descendant of Col-1 donated via AIS." []	208259	\N	\N	EFO	1	EFO	Columbia ecotype	Col-0
EFO:0005149	\N	\N	"Col-1 is an Arabidopsis ecotype and the original AIS donation of Columbia (isolate 5-13) from George Redei." []	EFO:0005149	"Col-1 is an Arabidopsis ecotype and the original AIS donation of Columbia (isolate 5-13) from George Redei." []	66902	\N	\N	EFO	0	EFO	Col-1	Col-1
EFO:0005147	EFO:0005149	\N	"The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative." []	EFO:0005149	"Col-1 is an Arabidopsis ecotype and the original AIS donation of Columbia (isolate 5-13) from George Redei." []	208260	\N	\N	EFO	1	EFO	Columbia ecotype	Col-1
EFO:0005150	\N	\N	"Col-2 is an Arabidopsis ecotype and is a line that has been single seed selected from Col-1 and propagated through 5 generations of single seed descent by Shauna Somerville." []	EFO:0005150	"Col-2 is an Arabidopsis ecotype and is a line that has been single seed selected from Col-1 and propagated through 5 generations of single seed descent by Shauna Somerville." []	66903	\N	\N	EFO	0	EFO	Col-2	Col-2
EFO:0005147	EFO:0005150	\N	"The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative." []	EFO:0005150	"Col-2 is an Arabidopsis ecotype and is a line that has been single seed selected from Col-1 and propagated through 5 generations of single seed descent by Shauna Somerville." []	208261	\N	\N	EFO	1	EFO	Columbia ecotype	Col-2
EFO:0005151	\N	\N	"Col-3 is an Arabidopsis ecotype and a line that Elliot Meyerowitz used for the RFLP mapping data and has shown polymorphisms in the hands of Chris Somerville to Col-2. It is also one of the female parents used by Jim Beynon, Eric Holub and Ian Crute for the generation of their RI population (the other being glabrous Col-5)." []	EFO:0005151	"Col-3 is an Arabidopsis ecotype and a line that Elliot Meyerowitz used for the RFLP mapping data and has shown polymorphisms in the hands of Chris Somerville to Col-2. It is also one of the female parents used by Jim Beynon, Eric Holub and Ian Crute for the generation of their RI population (the other being glabrous Col-5)." []	66904	\N	\N	EFO	0	EFO	Col-3	Col-3
EFO:0005147	EFO:0005151	\N	"The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative." []	EFO:0005151	"Col-3 is an Arabidopsis ecotype and a line that Elliot Meyerowitz used for the RFLP mapping data and has shown polymorphisms in the hands of Chris Somerville to Col-2. It is also one of the female parents used by Jim Beynon, Eric Holub and Ian Crute for the generation of their RI population (the other being glabrous Col-5)." []	208262	\N	\N	EFO	1	EFO	Columbia ecotype	Col-3
EFO:0005152	\N	\N	"Col-4 is an Arabidopsis ecotype and is the line used as the parental for the recombinant inbred population of Caroline Dean." []	EFO:0005152	"Col-4 is an Arabidopsis ecotype and is the line used as the parental for the recombinant inbred population of Caroline Dean." []	66905	\N	\N	EFO	0	EFO	Col-4	Col-4
EFO:0005147	EFO:0005152	\N	"The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative." []	EFO:0005152	"Col-4 is an Arabidopsis ecotype and is the line used as the parental for the recombinant inbred population of Caroline Dean." []	208263	\N	\N	EFO	1	EFO	Columbia ecotype	Col-4
EFO:0005153	\N	\N	"Col-5 is an Arabidopsis ecotype and the glabrous (gl1-1) Columbia line used by Jim Beynon, Eric Holub and Ian Crute as one of the female parents (the other being Col-3) for the generation of their RI population." []	EFO:0005153	"Col-5 is an Arabidopsis ecotype and the glabrous (gl1-1) Columbia line used by Jim Beynon, Eric Holub and Ian Crute as one of the female parents (the other being Col-3) for the generation of their RI population." []	66906	\N	\N	EFO	0	EFO	Col-5	Col-5
EFO:0005147	EFO:0005153	\N	"The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative." []	EFO:0005153	"Col-5 is an Arabidopsis ecotype and the glabrous (gl1-1) Columbia line used by Jim Beynon, Eric Holub and Ian Crute as one of the female parents (the other being Col-3) for the generation of their RI population." []	208264	\N	\N	EFO	1	EFO	Columbia ecotype	Col-5
EFO:0005154	\N	\N	"Landsberg erecta ecotype is an Arabidopsis thaliana ecotype. It was originally selected by Rdei from within a Landsberg population on which he had performed some X-ray mutagenesis experiments." []	EFO:0005154	"Landsberg erecta ecotype is an Arabidopsis thaliana ecotype. It was originally selected by Rdei from within a Landsberg population on which he had performed some X-ray mutagenesis experiments." []	66907	\N	\N	EFO	0	EFO	Landsberg ecotype	Landsberg ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0005154	"Landsberg erecta ecotype is an Arabidopsis thaliana ecotype. It was originally selected by Rdei from within a Landsberg population on which he had performed some X-ray mutagenesis experiments." []	194691	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Landsberg ecotype
EFO:0005155	\N	\N	"Ler-1 is an Arabidopsis ecotype." []	EFO:0005155	"Ler-1 is an Arabidopsis ecotype." []	66908	\N	\N	EFO	0	EFO	Ler-1	Ler-1
EFO:0005154	EFO:0005155	\N	"Landsberg erecta ecotype is an Arabidopsis thaliana ecotype. It was originally selected by Rdei from within a Landsberg population on which he had performed some X-ray mutagenesis experiments." []	EFO:0005155	"Ler-1 is an Arabidopsis ecotype." []	208265	\N	\N	EFO	1	EFO	Landsberg ecotype	Ler-1
EFO:0005156	\N	\N	"Wassilewskija is an Arabidopsis ecotype." []	EFO:0005156	"Wassilewskija is an Arabidopsis ecotype." []	66909	\N	\N	EFO	0	EFO	Wassilewskija ecotype	Wassilewskija ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0005156	"Wassilewskija is an Arabidopsis ecotype." []	194692	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Wassilewskija ecotype
EFO:0005157	\N	\N	"Ws-1 is an Arabidopsis ecotype." []	EFO:0005157	"Ws-1 is an Arabidopsis ecotype." []	66910	\N	\N	EFO	0	EFO	Ws-1	Ws-1
EFO:0005156	EFO:0005157	\N	"Wassilewskija is an Arabidopsis ecotype." []	EFO:0005157	"Ws-1 is an Arabidopsis ecotype." []	208266	\N	\N	EFO	1	EFO	Wassilewskija ecotype	Ws-1
EFO:0005158	\N	\N	"Ws-2 is an Arabidopsis ecotype." []	EFO:0005158	"Ws-2 is an Arabidopsis ecotype." []	66911	\N	\N	EFO	0	EFO	Ws-2	Ws-2
EFO:0005156	EFO:0005158	\N	"Wassilewskija is an Arabidopsis ecotype." []	EFO:0005158	"Ws-2 is an Arabidopsis ecotype." []	208267	\N	\N	EFO	1	EFO	Wassilewskija ecotype	Ws-2
EFO:0005159	\N	\N	"Ws-3 is an Arabidopsis ecotype." []	EFO:0005159	"Ws-3 is an Arabidopsis ecotype." []	66912	\N	\N	EFO	0	EFO	Ws-3	Ws-3
EFO:0005156	EFO:0005159	\N	"Wassilewskija is an Arabidopsis ecotype." []	EFO:0005159	"Ws-3 is an Arabidopsis ecotype." []	208268	\N	\N	EFO	1	EFO	Wassilewskija ecotype	Ws-3
EFO:0005160	\N	\N	"Umkirch is an Arabidopsis ecotype." []	EFO:0005160	"Umkirch is an Arabidopsis ecotype." []	66913	\N	\N	EFO	0	EFO	Umkirch ecotype	Umkirch ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0005160	"Umkirch is an Arabidopsis ecotype." []	194693	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Umkirch ecotype
EFO:0005161	\N	\N	"Uk-1 is an Arabidopsis ecotype." []	EFO:0005161	"Uk-1 is an Arabidopsis ecotype." []	66914	\N	\N	EFO	0	EFO	Uk-1	Uk-1
EFO:0005160	EFO:0005161	\N	"Umkirch is an Arabidopsis ecotype." []	EFO:0005161	"Uk-1 is an Arabidopsis ecotype." []	208269	\N	\N	EFO	1	EFO	Umkirch ecotype	Uk-1
EFO:0005162	\N	\N	"Uk-2 is an Arabidopsis ecotype" []	EFO:0005162	"Uk-2 is an Arabidopsis ecotype" []	66915	\N	\N	EFO	0	EFO	Uk-2	Uk-2
EFO:0005160	EFO:0005162	\N	"Umkirch is an Arabidopsis ecotype." []	EFO:0005162	"Uk-2 is an Arabidopsis ecotype" []	208270	\N	\N	EFO	1	EFO	Umkirch ecotype	Uk-2
EFO:0005163	\N	\N	"Uk-3 is an Arabidopsis ecotype." []	EFO:0005163	"Uk-3 is an Arabidopsis ecotype." []	66916	\N	\N	EFO	0	EFO	Uk-3	Uk-3
EFO:0005160	EFO:0005163	\N	"Umkirch is an Arabidopsis ecotype." []	EFO:0005163	"Uk-3 is an Arabidopsis ecotype." []	208271	\N	\N	EFO	1	EFO	Umkirch ecotype	Uk-3
EFO:0005164	\N	\N	"Calver is an Arabidopsis ecotype." []	EFO:0005164	"Calver is an Arabidopsis ecotype." []	66917	\N	\N	EFO	0	EFO	Calver ecotype	Calver ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0005164	"Calver is an Arabidopsis ecotype." []	194694	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Calver ecotype
EFO:0005165	\N	\N	"Cal-0 is an Arabidopsis ecotype." []	EFO:0005165	"Cal-0 is an Arabidopsis ecotype." []	66918	\N	\N	EFO	0	EFO	Cal-0	Cal-0
EFO:0005164	EFO:0005165	\N	"Calver is an Arabidopsis ecotype." []	EFO:0005165	"Cal-0 is an Arabidopsis ecotype." []	208272	\N	\N	EFO	1	EFO	Calver ecotype	Cal-0
EFO:0005166	\N	\N	"Blanes is an Arabidopsis ecotype." []	EFO:0005166	"Blanes is an Arabidopsis ecotype." []	66919	\N	\N	EFO	0	EFO	Blanes ecotype	Blanes ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0005166	"Blanes is an Arabidopsis ecotype." []	194695	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Blanes ecotype
EFO:0005167	\N	\N	"Bla-1 is an Arabidopsis ecotype." []	EFO:0005167	"Bla-1 is an Arabidopsis ecotype." []	66920	\N	\N	EFO	0	EFO	Bla-1	Bla-1
EFO:0005166	EFO:0005167	\N	"Blanes is an Arabidopsis ecotype." []	EFO:0005167	"Bla-1 is an Arabidopsis ecotype." []	208273	\N	\N	EFO	1	EFO	Blanes ecotype	Bla-1
EFO:0005168	\N	\N	"" []	EFO:0005168	"" []	66921	\N	\N	EFO	0	EFO	wild type genotype	wild type genotype
EFO:0000513	EFO:0005168	\N	"The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment." []	EFO:0005168	"" []	208274	\N	\N	EFO	1	EFO	genotype	wild type genotype
EFO:0004554	EFO:0000513	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0005168	"" []	561428	\N	\N	EFO	2	EFO	genomic measurement	wild type genotype
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005168	"" []	1143178	\N	\N	EFO	3	EFO	measurement	wild type genotype
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005168	"" []	2025882	\N	\N	EFO	4	EFO	information entity	wild type genotype
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005168	"" []	3178329	\N	\N	EFO	5	EFO	experimental factor	wild type genotype
EFO:0005169	\N	\N	"Burren is an Arabidopsis ecotype." []	EFO:0005169	"Burren is an Arabidopsis ecotype." []	66922	\N	\N	EFO	0	EFO	Burren ecotype	Burren ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0005169	"Burren is an Arabidopsis ecotype." []	194696	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Burren ecotype
EFO:0005170	\N	\N	"Bur-0 is an Arabidopsis ecotype." []	EFO:0005170	"Bur-0 is an Arabidopsis ecotype." []	66923	\N	\N	EFO	0	EFO	Bur-0	Bur-0
EFO:0005169	EFO:0005170	\N	"Burren is an Arabidopsis ecotype." []	EFO:0005170	"Bur-0 is an Arabidopsis ecotype." []	208275	\N	\N	EFO	1	EFO	Burren ecotype	Bur-0
EFO:0005171	\N	\N	"Bologna is an Arabidopsis ecotype." []	EFO:0005171	"Bologna is an Arabidopsis ecotype." []	66924	\N	\N	EFO	0	EFO	Bologna ecotype	Bologna ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0005171	"Bologna is an Arabidopsis ecotype." []	194697	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Bologna ecotype
EFO:0005172	\N	\N	"Bl-0 is an Arabidopsis ecotype." []	EFO:0005172	"Bl-0 is an Arabidopsis ecotype." []	66925	\N	\N	EFO	0	EFO	Bl-0	Bl-0
EFO:0005171	EFO:0005172	\N	"Bologna is an Arabidopsis ecotype." []	EFO:0005172	"Bl-0 is an Arabidopsis ecotype." []	208276	\N	\N	EFO	1	EFO	Bologna ecotype	Bl-0
EFO:0005173	\N	\N	"Bl-1 is an Arabidopsis ecotype." []	EFO:0005173	"Bl-1 is an Arabidopsis ecotype." []	66926	\N	\N	EFO	0	EFO	Bl-1	Bl-1
EFO:0005171	EFO:0005173	\N	"Bologna is an Arabidopsis ecotype." []	EFO:0005173	"Bl-1 is an Arabidopsis ecotype." []	208277	\N	\N	EFO	1	EFO	Bologna ecotype	Bl-1
EFO:0005174	\N	\N	"Bayreuth is an Arabidopsis ecotype." []	EFO:0005174	"Bayreuth is an Arabidopsis ecotype." []	66927	\N	\N	EFO	0	EFO	Bayreuth ecotype	Bayreuth ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0005174	"Bayreuth is an Arabidopsis ecotype." []	194698	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Bayreuth ecotype
EFO:0005175	\N	\N	"Bay-0 is an Arabidopsis ecotype." []	EFO:0005175	"Bay-0 is an Arabidopsis ecotype." []	66928	\N	\N	EFO	0	EFO	Bay-0	Bay-0
EFO:0005174	EFO:0005175	\N	"Bayreuth is an Arabidopsis ecotype." []	EFO:0005175	"Bay-0 is an Arabidopsis ecotype." []	208278	\N	\N	EFO	1	EFO	Bayreuth ecotype	Bay-0
EFO:0005176	\N	\N	"Coimbra is an Arabidopsis ecotype." []	EFO:0005176	"Coimbra is an Arabidopsis ecotype." []	66929	\N	\N	EFO	0	EFO	Coimbra ecotype	Coimbra ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0005176	"Coimbra is an Arabidopsis ecotype." []	194699	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Coimbra ecotype
EFO:0005177	\N	\N	"Co-1 is an Arabidopsis ecotype." []	EFO:0005177	"Co-1 is an Arabidopsis ecotype." []	66930	\N	\N	EFO	0	EFO	Co-1	Co-1
EFO:0005176	EFO:0005177	\N	"Coimbra is an Arabidopsis ecotype." []	EFO:0005177	"Co-1 is an Arabidopsis ecotype." []	208279	\N	\N	EFO	1	EFO	Coimbra ecotype	Co-1
EFO:0005178	\N	\N	"San Eleno is an Arabidopsis ecotype." []	EFO:0005178	"San Eleno is an Arabidopsis ecotype." []	66931	\N	\N	EFO	0	EFO	San Eleno ecotype	San Eleno ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0005178	"San Eleno is an Arabidopsis ecotype." []	194700	\N	\N	EFO	0	EFO	Arabidopsis thaliana	San Eleno ecotype
EFO:0005179	\N	\N	"Se-0 is an Arabidopsis ecotype" []	EFO:0005179	"Se-0 is an Arabidopsis ecotype" []	66932	\N	\N	EFO	0	EFO	Se-0	Se-0
EFO:0005178	EFO:0005179	\N	"San Eleno is an Arabidopsis ecotype." []	EFO:0005179	"Se-0 is an Arabidopsis ecotype" []	208280	\N	\N	EFO	1	EFO	San Eleno ecotype	Se-0
EFO:0005180	\N	\N	"The original group of Swiss mice that served as progenitors of this stock consisted of two male and seven female albino mice derived from a non-inbred stock in the laboratory of Dr. de Coulon, Centre Anticancereux Romand, Lausanne, Switzerland." []	EFO:0005180	"The original group of Swiss mice that served as progenitors of this stock consisted of two male and seven female albino mice derived from a non-inbred stock in the laboratory of Dr. de Coulon, Centre Anticancereux Romand, Lausanne, Switzerland." []	66933	\N	\N	EFO	0	EFO	CD1 mus strain	CD1 mus strain
NCBITaxon:10090	\N	\N	"" []	EFO:0005180	"The original group of Swiss mice that served as progenitors of this stock consisted of two male and seven female albino mice derived from a non-inbred stock in the laboratory of Dr. de Coulon, Centre Anticancereux Romand, Lausanne, Switzerland." []	194701	\N	\N	EFO	0	EFO	Mus musculus	CD1 mus strain
EFO:0005181	\N	\N	"An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology." []	EFO:0005181	"An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology." []	66934	\N	\N	EFO	0	EFO	C57BL	C57BL
NCBITaxon:10090	\N	\N	"" []	EFO:0005181	"An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology." []	194702	\N	\N	EFO	0	EFO	Mus musculus	C57BL
EFO:0005182	\N	\N	"N'Dama are a breed of cattle from West Africa, of the Bos taurus-type. Other names for them include Boenca or Boyenca (Guinea-Bissau), Fouta Jallon, Fouta Longhorn, Fouta Malinke, Futa, Malinke, Mandingo (Liberia), N'Dama Petite (Senegal). Originating in the Guinea highlands they are also found in southern Senegal, Guinea-Bissau, Gambia, Mali, Cte d'Ivoire, Liberia, Nigeria and Sierra Leone. They are trypanotolerant, allowing them to be kept in tsetse fly infested areas. They also show superior resistance to ticks and the diseases they carry and to Haemonchus contortus stomach worms." []	EFO:0005182	"N'Dama are a breed of cattle from West Africa, of the Bos taurus-type. Other names for them include Boenca or Boyenca (Guinea-Bissau), Fouta Jallon, Fouta Longhorn, Fouta Malinke, Futa, Malinke, Mandingo (Liberia), N'Dama Petite (Senegal). Originating in the Guinea highlands they are also found in southern Senegal, Guinea-Bissau, Gambia, Mali, Cte d'Ivoire, Liberia, Nigeria and Sierra Leone. They are trypanotolerant, allowing them to be kept in tsetse fly infested areas. They also show superior resistance to ticks and the diseases they carry and to Haemonchus contortus stomach worms." []	66935	\N	\N	EFO	0	EFO	N'Dama	N'Dama
NCBITaxon:9913	\N	\N	"" []	EFO:0005182	"N'Dama are a breed of cattle from West Africa, of the Bos taurus-type. Other names for them include Boenca or Boyenca (Guinea-Bissau), Fouta Jallon, Fouta Longhorn, Fouta Malinke, Futa, Malinke, Mandingo (Liberia), N'Dama Petite (Senegal). Originating in the Guinea highlands they are also found in southern Senegal, Guinea-Bissau, Gambia, Mali, Cte d'Ivoire, Liberia, Nigeria and Sierra Leone. They are trypanotolerant, allowing them to be kept in tsetse fly infested areas. They also show superior resistance to ticks and the diseases they carry and to Haemonchus contortus stomach worms." []	194703	\N	\N	EFO	0	EFO	Bos taurus	N'Dama
EFO:0005183	\N	\N	"Boran cattle are a popular Zebu beef breed in eastern Africa." []	EFO:0005183	"Boran cattle are a popular Zebu beef breed in eastern Africa." []	66936	\N	\N	EFO	0	EFO	Boran cattle	Boran cattle
NCBITaxon:9913	\N	\N	"" []	EFO:0005183	"Boran cattle are a popular Zebu beef breed in eastern Africa." []	194704	\N	\N	EFO	0	EFO	Bos taurus	Boran cattle
EFO:0005184	\N	\N	"Inbred Strain TJL Mating System: Sibling x Sibling (Female x Male) Species: laboratory mouse H2 Haplotype: d Generation: F219p (14-DEC-06) Appearance: dilute brown Related Genotype: a/a Tyrp1b/Tyrp1b Myo5ad/Myo5ad Important Note This strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss that is already severe by 3 months of age. Strain Description DBA/2J is a widely used inbred strain that is valuable in a wide number of research areas including cardiovascular biology, neurobiology, and sensorineural research." []	EFO:0005184	"Inbred Strain TJL Mating System: Sibling x Sibling (Female x Male) Species: laboratory mouse H2 Haplotype: d Generation: F219p (14-DEC-06) Appearance: dilute brown Related Genotype: a/a Tyrp1b/Tyrp1b Myo5ad/Myo5ad Important Note This strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss that is already severe by 3 months of age. Strain Description DBA/2J is a widely used inbred strain that is valuable in a wide number of research areas including cardiovascular biology, neurobiology, and sensorineural research." []	66937	\N	\N	EFO	0	EFO	DBA/2J	DBA/2J
NCBITaxon:10090	\N	\N	"" []	EFO:0005184	"Inbred Strain TJL Mating System: Sibling x Sibling (Female x Male) Species: laboratory mouse H2 Haplotype: d Generation: F219p (14-DEC-06) Appearance: dilute brown Related Genotype: a/a Tyrp1b/Tyrp1b Myo5ad/Myo5ad Important Note This strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss that is already severe by 3 months of age. Strain Description DBA/2J is a widely used inbred strain that is valuable in a wide number of research areas including cardiovascular biology, neurobiology, and sensorineural research." []	194705	\N	\N	EFO	0	EFO	Mus musculus	DBA/2J
EFO:0005185	\N	\N	"The terminal ileum is the most distal part of the small intestine. It connects to the cecum, the pouch between the small and the large intestine, via the ileocecal valve." []	EFO:0005185	"The terminal ileum is the most distal part of the small intestine. It connects to the cecum, the pouch between the small and the large intestine, via the ileocecal valve." []	66938	\N	\N	EFO	0	EFO	terminal ileum	terminal ileum
EFO:0000787	EFO:0005185	\N	"" []	EFO:0005185	"The terminal ileum is the most distal part of the small intestine. It connects to the cecum, the pouch between the small and the large intestine, via the ileocecal valve." []	208281	\N	\N	EFO	1	EFO	animal component	terminal ileum
EFO:0000786	EFO:0000787	\N	"" []	EFO:0005185	"The terminal ileum is the most distal part of the small intestine. It connects to the cecum, the pouch between the small and the large intestine, via the ileocecal valve." []	561429	\N	\N	EFO	2	EFO	anatomy basic component	terminal ileum
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0005185	"The terminal ileum is the most distal part of the small intestine. It connects to the cecum, the pouch between the small and the large intestine, via the ileocecal valve." []	1143179	\N	\N	EFO	3	EFO	organism part	terminal ileum
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005185	"The terminal ileum is the most distal part of the small intestine. It connects to the cecum, the pouch between the small and the large intestine, via the ileocecal valve." []	2025883	\N	\N	EFO	4	EFO	material entity	terminal ileum
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005185	"The terminal ileum is the most distal part of the small intestine. It connects to the cecum, the pouch between the small and the large intestine, via the ileocecal valve." []	3178330	\N	\N	EFO	5	EFO	experimental factor	terminal ileum
EFO:0005186	\N	\N	"The fundus of the uterus is the top portion, opposite from the cervix.\\nFundal height, measured from the top of the pubic bone, is routinely measured in pregnancy to determine growth rates." []	EFO:0005186	"The fundus of the uterus is the top portion, opposite from the cervix.\\nFundal height, measured from the top of the pubic bone, is routinely measured in pregnancy to determine growth rates." []	66939	\N	\N	EFO	0	EFO	uterus fundus	uterus fundus
EFO:0000787	EFO:0005186	\N	"" []	EFO:0005186	"The fundus of the uterus is the top portion, opposite from the cervix.\\nFundal height, measured from the top of the pubic bone, is routinely measured in pregnancy to determine growth rates." []	208282	\N	\N	EFO	1	EFO	animal component	uterus fundus
EFO:0000786	EFO:0000787	\N	"" []	EFO:0005186	"The fundus of the uterus is the top portion, opposite from the cervix.\\nFundal height, measured from the top of the pubic bone, is routinely measured in pregnancy to determine growth rates." []	561430	\N	\N	EFO	2	EFO	anatomy basic component	uterus fundus
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0005186	"The fundus of the uterus is the top portion, opposite from the cervix.\\nFundal height, measured from the top of the pubic bone, is routinely measured in pregnancy to determine growth rates." []	1143180	\N	\N	EFO	3	EFO	organism part	uterus fundus
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005186	"The fundus of the uterus is the top portion, opposite from the cervix.\\nFundal height, measured from the top of the pubic bone, is routinely measured in pregnancy to determine growth rates." []	2025884	\N	\N	EFO	4	EFO	material entity	uterus fundus
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005186	"The fundus of the uterus is the top portion, opposite from the cervix.\\nFundal height, measured from the top of the pubic bone, is routinely measured in pregnancy to determine growth rates." []	3178331	\N	\N	EFO	5	EFO	experimental factor	uterus fundus
EFO:0005187	\N	\N	"A measurement of the connecting peptide, or C-peptide -  a short 31-amino-acid polypeptide that connects insulin's A-chain to its B-chain in the proinsulin molecule. C-peptide measurements may be made for clinical diagnostics.\\n\\nAs a means of distinguishing type 1 diabetes from type 2 diabetes or Maturity onset diabetes of the young (MODY).\\n\\nTo determine how much of their own natural insulin a person is producing as C-peptide is secreted in equimolar amounts to insulin. \\n\\nC-peptide may be used for determining the possibility of gastrinomas associated with Multiple Endocrine Neoplasm syndromes.\\n\\nC-peptide levels may be checked in women with Polycystic Ovarian Syndrome (PCOS) to help determine degree of insulin resistance" []	EFO:0005187	"A measurement of the connecting peptide, or C-peptide -  a short 31-amino-acid polypeptide that connects insulin's A-chain to its B-chain in the proinsulin molecule. C-peptide measurements may be made for clinical diagnostics.\\n\\nAs a means of distinguishing type 1 diabetes from type 2 diabetes or Maturity onset diabetes of the young (MODY).\\n\\nTo determine how much of their own natural insulin a person is producing as C-peptide is secreted in equimolar amounts to insulin. \\n\\nC-peptide may be used for determining the possibility of gastrinomas associated with Multiple Endocrine Neoplasm syndromes.\\n\\nC-peptide levels may be checked in women with Polycystic Ovarian Syndrome (PCOS) to help determine degree of insulin resistance" []	66940	\N	\N	EFO	0	EFO	C-peptide measurement	C-peptide measurement
EFO:0005127	EFO:0005187	\N	"cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and ? fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient" []	EFO:0005187	"A measurement of the connecting peptide, or C-peptide -  a short 31-amino-acid polypeptide that connects insulin's A-chain to its B-chain in the proinsulin molecule. C-peptide measurements may be made for clinical diagnostics.\\n\\nAs a means of distinguishing type 1 diabetes from type 2 diabetes or Maturity onset diabetes of the young (MODY).\\n\\nTo determine how much of their own natural insulin a person is producing as C-peptide is secreted in equimolar amounts to insulin. \\n\\nC-peptide may be used for determining the possibility of gastrinomas associated with Multiple Endocrine Neoplasm syndromes.\\n\\nC-peptide levels may be checked in women with Polycystic Ovarian Syndrome (PCOS) to help determine degree of insulin resistance" []	208283	\N	\N	EFO	1	EFO	cancer biomarker measurement	C-peptide measurement
EFO:0001444	EFO:0005127	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005187	"A measurement of the connecting peptide, or C-peptide -  a short 31-amino-acid polypeptide that connects insulin's A-chain to its B-chain in the proinsulin molecule. C-peptide measurements may be made for clinical diagnostics.\\n\\nAs a means of distinguishing type 1 diabetes from type 2 diabetes or Maturity onset diabetes of the young (MODY).\\n\\nTo determine how much of their own natural insulin a person is producing as C-peptide is secreted in equimolar amounts to insulin. \\n\\nC-peptide may be used for determining the possibility of gastrinomas associated with Multiple Endocrine Neoplasm syndromes.\\n\\nC-peptide levels may be checked in women with Polycystic Ovarian Syndrome (PCOS) to help determine degree of insulin resistance" []	561431	\N	\N	EFO	2	EFO	measurement	C-peptide measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005187	"A measurement of the connecting peptide, or C-peptide -  a short 31-amino-acid polypeptide that connects insulin's A-chain to its B-chain in the proinsulin molecule. C-peptide measurements may be made for clinical diagnostics.\\n\\nAs a means of distinguishing type 1 diabetes from type 2 diabetes or Maturity onset diabetes of the young (MODY).\\n\\nTo determine how much of their own natural insulin a person is producing as C-peptide is secreted in equimolar amounts to insulin. \\n\\nC-peptide may be used for determining the possibility of gastrinomas associated with Multiple Endocrine Neoplasm syndromes.\\n\\nC-peptide levels may be checked in women with Polycystic Ovarian Syndrome (PCOS) to help determine degree of insulin resistance" []	1143181	\N	\N	EFO	3	EFO	information entity	C-peptide measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005187	"A measurement of the connecting peptide, or C-peptide -  a short 31-amino-acid polypeptide that connects insulin's A-chain to its B-chain in the proinsulin molecule. C-peptide measurements may be made for clinical diagnostics.\\n\\nAs a means of distinguishing type 1 diabetes from type 2 diabetes or Maturity onset diabetes of the young (MODY).\\n\\nTo determine how much of their own natural insulin a person is producing as C-peptide is secreted in equimolar amounts to insulin. \\n\\nC-peptide may be used for determining the possibility of gastrinomas associated with Multiple Endocrine Neoplasm syndromes.\\n\\nC-peptide levels may be checked in women with Polycystic Ovarian Syndrome (PCOS) to help determine degree of insulin resistance" []	2025885	\N	\N	EFO	4	EFO	experimental factor	C-peptide measurement
EFO:0005188	\N	\N	"A quantification of C-C motif chemokine 11, also known as Eotaxin, \\nEosinophil chemotactic protein and \\nSmall-inducible cytokine A11.\\n In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3" []	EFO:0005188	"A quantification of C-C motif chemokine 11, also known as Eotaxin, \\nEosinophil chemotactic protein and \\nSmall-inducible cytokine A11.\\n In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3" []	66941	\N	\N	EFO	0	EFO	CCL11 measurement	CCL11 measurement
EFO:0004872	EFO:0005188	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0005188	"A quantification of C-C motif chemokine 11, also known as Eotaxin, \\nEosinophil chemotactic protein and \\nSmall-inducible cytokine A11.\\n In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3" []	208284	\N	\N	EFO	1	EFO	inflammatory biomarker measurement	CCL11 measurement
EFO:0004873	EFO:0005188	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0005188	"A quantification of C-C motif chemokine 11, also known as Eotaxin, \\nEosinophil chemotactic protein and \\nSmall-inducible cytokine A11.\\n In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3" []	208285	\N	\N	EFO	1	EFO	cytokine measurement	CCL11 measurement
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005188	"A quantification of C-C motif chemokine 11, also known as Eotaxin, \\nEosinophil chemotactic protein and \\nSmall-inducible cytokine A11.\\n In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3" []	561432	\N	\N	EFO	2	EFO	measurement	CCL11 measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005188	"A quantification of C-C motif chemokine 11, also known as Eotaxin, \\nEosinophil chemotactic protein and \\nSmall-inducible cytokine A11.\\n In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3" []	561433	\N	\N	EFO	2	EFO	protein measurement	CCL11 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005188	"A quantification of C-C motif chemokine 11, also known as Eotaxin, \\nEosinophil chemotactic protein and \\nSmall-inducible cytokine A11.\\n In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3" []	2025887	\N	\N	EFO	4	EFO	information entity	CCL11 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005188	"A quantification of C-C motif chemokine 11, also known as Eotaxin, \\nEosinophil chemotactic protein and \\nSmall-inducible cytokine A11.\\n In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3" []	1143183	\N	\N	EFO	3	EFO	measurement	CCL11 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005188	"A quantification of C-C motif chemokine 11, also known as Eotaxin, \\nEosinophil chemotactic protein and \\nSmall-inducible cytokine A11.\\n In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3" []	2999619	\N	\N	EFO	5	EFO	experimental factor	CCL11 measurement
EFO:0005189	\N	\N	"The respiratory quotient (or RQ or respiratory coefficient), is a dimensionless number used in calculations of basal metabolic rate (BMR) when estimated from carbon dioxide production. Such measurements, like measurements of oxygen uptake, are forms of indirect calorimetry." []	EFO:0005189	"The respiratory quotient (or RQ or respiratory coefficient), is a dimensionless number used in calculations of basal metabolic rate (BMR) when estimated from carbon dioxide production. Such measurements, like measurements of oxygen uptake, are forms of indirect calorimetry." []	66942	\N	\N	EFO	0	EFO	respiratory quotient	respiratory quotient
EFO:0005115	EFO:0005189	\N	"a quantification of metabolic rate" []	EFO:0005189	"The respiratory quotient (or RQ or respiratory coefficient), is a dimensionless number used in calculations of basal metabolic rate (BMR) when estimated from carbon dioxide production. Such measurements, like measurements of oxygen uptake, are forms of indirect calorimetry." []	208286	\N	\N	EFO	1	EFO	metabolic rate measurement	respiratory quotient
EFO:0001444	EFO:0005115	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005189	"The respiratory quotient (or RQ or respiratory coefficient), is a dimensionless number used in calculations of basal metabolic rate (BMR) when estimated from carbon dioxide production. Such measurements, like measurements of oxygen uptake, are forms of indirect calorimetry." []	561434	\N	\N	EFO	2	EFO	measurement	respiratory quotient
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005189	"The respiratory quotient (or RQ or respiratory coefficient), is a dimensionless number used in calculations of basal metabolic rate (BMR) when estimated from carbon dioxide production. Such measurements, like measurements of oxygen uptake, are forms of indirect calorimetry." []	1143184	\N	\N	EFO	3	EFO	information entity	respiratory quotient
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005189	"The respiratory quotient (or RQ or respiratory coefficient), is a dimensionless number used in calculations of basal metabolic rate (BMR) when estimated from carbon dioxide production. Such measurements, like measurements of oxygen uptake, are forms of indirect calorimetry." []	2025888	\N	\N	EFO	4	EFO	experimental factor	respiratory quotient
EFO:0005190	\N	\N	"" []	EFO:0005190	"" []	66943	\N	\N	EFO	0	EFO	urinary nitrogen measurement	urinary nitrogen measurement
EFO:0001444	EFO:0005190	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005190	"" []	208287	\N	\N	EFO	1	EFO	measurement	urinary nitrogen measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005190	"" []	561435	\N	\N	EFO	2	EFO	information entity	urinary nitrogen measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005190	"" []	1143185	\N	\N	EFO	3	EFO	experimental factor	urinary nitrogen measurement
EFO:0005191	\N	\N	"A quantification of the waist-height WHtR - a measurement of body fat distribution. " []	EFO:0005191	"A quantification of the waist-height WHtR - a measurement of body fat distribution. " []	66944	\N	\N	EFO	0	EFO	waist height ratio	waist height ratio
EFO:0007861	EFO:0005191	\N	"quantification of the ratio between two body measures, eg waist-hip ratio" []	EFO:0005191	"A quantification of the waist-height WHtR - a measurement of body fat distribution. " []	208288	\N	\N	EFO	1	EFO	body ratio measurement	waist height ratio
EFO:0004324	EFO:0007861	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0005191	"A quantification of the waist-height WHtR - a measurement of body fat distribution. " []	561436	\N	\N	EFO	2	EFO	body weights and measures	waist height ratio
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0005191	"A quantification of the waist-height WHtR - a measurement of body fat distribution. " []	1143186	\N	\N	EFO	3	EFO	anthropometric measurement	waist height ratio
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005191	"A quantification of the waist-height WHtR - a measurement of body fat distribution. " []	2025889	\N	\N	EFO	4	EFO	measurement	waist height ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005191	"A quantification of the waist-height WHtR - a measurement of body fat distribution. " []	3178332	\N	\N	EFO	5	EFO	information entity	waist height ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005191	"A quantification of the waist-height WHtR - a measurement of body fat distribution. " []	4388172	\N	\N	EFO	6	EFO	experimental factor	waist height ratio
EFO:0005192	\N	\N	"measure of the variation of red blood cell (RBC) volume" []	EFO:0005192	"measure of the variation of red blood cell (RBC) volume" []	66945	\N	\N	EFO	0	EFO	red blood cell distribution width	red blood cell distribution width
EFO:0004503	EFO:0005192	\N	"A measurement quantifying some blood cell, or component." []	EFO:0005192	"measure of the variation of red blood cell (RBC) volume" []	208289	\N	\N	EFO	1	EFO	hematological measurement	red blood cell distribution width
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005192	"measure of the variation of red blood cell (RBC) volume" []	561437	\N	\N	EFO	2	EFO	measurement	red blood cell distribution width
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005192	"measure of the variation of red blood cell (RBC) volume" []	1143187	\N	\N	EFO	3	EFO	information entity	red blood cell distribution width
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005192	"measure of the variation of red blood cell (RBC) volume" []	2025890	\N	\N	EFO	4	EFO	experimental factor	red blood cell distribution width
EFO:0005193	\N	\N	"quantification of N-linked IgG glycans in a serum sample" []	EFO:0005193	"quantification of N-linked IgG glycans in a serum sample" []	66946	\N	\N	EFO	0	EFO	serum IgG glycosylation measurement	serum IgG glycosylation measurement
EFO:0004565	EFO:0005193	\N	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	EFO:0005193	"quantification of N-linked IgG glycans in a serum sample" []	208290	\N	\N	EFO	1	EFO	serum IgG measurement	serum IgG glycosylation measurement
EFO:0004556	EFO:0004565	\N	"Is the quantification of some antibody" []	EFO:0005193	"quantification of N-linked IgG glycans in a serum sample" []	561438	\N	\N	EFO	2	EFO	antibody measurement	serum IgG glycosylation measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005193	"quantification of N-linked IgG glycans in a serum sample" []	1143188	\N	\N	EFO	3	EFO	measurement	serum IgG glycosylation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005193	"quantification of N-linked IgG glycans in a serum sample" []	2025891	\N	\N	EFO	4	EFO	information entity	serum IgG glycosylation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005193	"quantification of N-linked IgG glycans in a serum sample" []	3178333	\N	\N	EFO	5	EFO	experimental factor	serum IgG glycosylation measurement
EFO:0005194	\N	\N	"quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease" []	EFO:0005194	"quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease" []	66947	\N	\N	EFO	0	EFO	amyloid-beta measurement	amyloid-beta measurement
EFO:0004747	EFO:0005194	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005194	"quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease" []	208291	\N	\N	EFO	1	EFO	protein measurement	amyloid-beta measurement
EFO:0006514	EFO:0005194	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0005194	"quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease" []	208292	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	amyloid-beta measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005194	"quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease" []	561439	\N	\N	EFO	2	EFO	measurement	amyloid-beta measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005194	"quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease" []	561440	\N	\N	EFO	2	EFO	measurement	amyloid-beta measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005194	"quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease" []	1143189	\N	\N	EFO	3	EFO	information entity	amyloid-beta measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005194	"quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease" []	2025892	\N	\N	EFO	4	EFO	experimental factor	amyloid-beta measurement
EFO:0005195	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholinesterase inhbitor stimulus." []	EFO:0005195	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholinesterase inhbitor stimulus." []	66948	\N	\N	EFO	0	EFO	response to cholinesterase inhibitor	response to cholinesterase inhibitor
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0005195	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholinesterase inhbitor stimulus." []	194706	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to cholinesterase inhibitor
EFO:0005196	\N	\N	"quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease" []	EFO:0005196	"quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease" []	66949	\N	\N	EFO	0	EFO	vasoactive peptide measurement	vasoactive peptide measurement
EFO:0005278	EFO:0005196	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005196	"quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease" []	208293	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	vasoactive peptide measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005196	"quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease" []	561441	\N	\N	EFO	2	EFO	cardiovascular measurement	vasoactive peptide measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005196	"quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease" []	1143190	\N	\N	EFO	3	EFO	measurement	vasoactive peptide measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005196	"quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease" []	2025893	\N	\N	EFO	4	EFO	information entity	vasoactive peptide measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005196	"quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease" []	3178334	\N	\N	EFO	5	EFO	experimental factor	vasoactive peptide measurement
EFO:0005197	\N	\N	"A quantification of the MHC component beta-2 microglobulin, typically in a blood sample. Used as progostic indicator in multiple myeloma, and diseases associated with increased cell turnover. Levels are also elevated in several benign conditions such as chronic inflammation, liver disease, renal dysfunction, some acute viral infections, and a number of malignancies, especially hematologic malignancies associated with the B-lymphocyte lineage." []	EFO:0005197	"A quantification of the MHC component beta-2 microglobulin, typically in a blood sample. Used as progostic indicator in multiple myeloma, and diseases associated with increased cell turnover. Levels are also elevated in several benign conditions such as chronic inflammation, liver disease, renal dysfunction, some acute viral infections, and a number of malignancies, especially hematologic malignancies associated with the B-lymphocyte lineage." []	66950	\N	\N	EFO	0	EFO	beta-2 microglobulin measurement	beta-2 microglobulin measurement
EFO:0004747	EFO:0005197	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005197	"A quantification of the MHC component beta-2 microglobulin, typically in a blood sample. Used as progostic indicator in multiple myeloma, and diseases associated with increased cell turnover. Levels are also elevated in several benign conditions such as chronic inflammation, liver disease, renal dysfunction, some acute viral infections, and a number of malignancies, especially hematologic malignancies associated with the B-lymphocyte lineage." []	208294	\N	\N	EFO	1	EFO	protein measurement	beta-2 microglobulin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005197	"A quantification of the MHC component beta-2 microglobulin, typically in a blood sample. Used as progostic indicator in multiple myeloma, and diseases associated with increased cell turnover. Levels are also elevated in several benign conditions such as chronic inflammation, liver disease, renal dysfunction, some acute viral infections, and a number of malignancies, especially hematologic malignancies associated with the B-lymphocyte lineage." []	561442	\N	\N	EFO	2	EFO	measurement	beta-2 microglobulin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005197	"A quantification of the MHC component beta-2 microglobulin, typically in a blood sample. Used as progostic indicator in multiple myeloma, and diseases associated with increased cell turnover. Levels are also elevated in several benign conditions such as chronic inflammation, liver disease, renal dysfunction, some acute viral infections, and a number of malignancies, especially hematologic malignancies associated with the B-lymphocyte lineage." []	1143191	\N	\N	EFO	3	EFO	information entity	beta-2 microglobulin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005197	"A quantification of the MHC component beta-2 microglobulin, typically in a blood sample. Used as progostic indicator in multiple myeloma, and diseases associated with increased cell turnover. Levels are also elevated in several benign conditions such as chronic inflammation, liver disease, renal dysfunction, some acute viral infections, and a number of malignancies, especially hematologic malignancies associated with the B-lymphocyte lineage." []	2025894	\N	\N	EFO	4	EFO	experimental factor	beta-2 microglobulin measurement
EFO:0005198	\N	\N	"" []	EFO:0005198	"" []	66951	\N	\N	EFO	0	EFO	transplant outcome measurement	transplant outcome measurement
EFO:0001444	EFO:0005198	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005198	"" []	208295	\N	\N	EFO	1	EFO	measurement	transplant outcome measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005198	"" []	561443	\N	\N	EFO	2	EFO	information entity	transplant outcome measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005198	"" []	1143192	\N	\N	EFO	3	EFO	experimental factor	transplant outcome measurement
EFO:0005199	\N	\N	"quantification of the outcome of a kidney transplant" []	EFO:0005199	"quantification of the outcome of a kidney transplant" []	66952	\N	\N	EFO	0	EFO	renal transplant outcome measurement	renal transplant outcome measurement
EFO:0005198	EFO:0005199	\N	"" []	EFO:0005199	"quantification of the outcome of a kidney transplant" []	208296	\N	\N	EFO	1	EFO	transplant outcome measurement	renal transplant outcome measurement
EFO:0001444	EFO:0005198	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005199	"quantification of the outcome of a kidney transplant" []	561444	\N	\N	EFO	2	EFO	measurement	renal transplant outcome measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005199	"quantification of the outcome of a kidney transplant" []	1143193	\N	\N	EFO	3	EFO	information entity	renal transplant outcome measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005199	"quantification of the outcome of a kidney transplant" []	2025895	\N	\N	EFO	4	EFO	experimental factor	renal transplant outcome measurement
EFO:0005200	\N	\N	"Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- ? 2 glycoprotein I antibodies (anti- ? 2GPI).They can be an indicator of antiphospholipid syndrome" []	EFO:0005200	"Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- ? 2 glycoprotein I antibodies (anti- ? 2GPI).They can be an indicator of antiphospholipid syndrome" []	66953	\N	\N	EFO	0	EFO	antiphospholipid antibody measurement	antiphospholipid antibody measurement
EFO:0004556	EFO:0005200	\N	"Is the quantification of some antibody" []	EFO:0005200	"Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- ? 2 glycoprotein I antibodies (anti- ? 2GPI).They can be an indicator of antiphospholipid syndrome" []	208297	\N	\N	EFO	1	EFO	antibody measurement	antiphospholipid antibody measurement
EFO:0006846	EFO:0005200	\N	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	EFO:0005200	"Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- ? 2 glycoprotein I antibodies (anti- ? 2GPI).They can be an indicator of antiphospholipid syndrome" []	208298	\N	\N	EFO	1	EFO	autoimmune disease biomarker	antiphospholipid antibody measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005200	"Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- ? 2 glycoprotein I antibodies (anti- ? 2GPI).They can be an indicator of antiphospholipid syndrome" []	561445	\N	\N	EFO	2	EFO	measurement	antiphospholipid antibody measurement
EFO:0001444	EFO:0006846	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005200	"Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- ? 2 glycoprotein I antibodies (anti- ? 2GPI).They can be an indicator of antiphospholipid syndrome" []	561446	\N	\N	EFO	2	EFO	measurement	antiphospholipid antibody measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005200	"Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- ? 2 glycoprotein I antibodies (anti- ? 2GPI).They can be an indicator of antiphospholipid syndrome" []	1143194	\N	\N	EFO	3	EFO	information entity	antiphospholipid antibody measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005200	"Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- ? 2 glycoprotein I antibodies (anti- ? 2GPI).They can be an indicator of antiphospholipid syndrome" []	2025896	\N	\N	EFO	4	EFO	experimental factor	antiphospholipid antibody measurement
EFO:0005201	\N	\N	"growth is measured as the difference in body height between two time points" []	EFO:0005201	"growth is measured as the difference in body height between two time points" []	66954	\N	\N	EFO	0	EFO	height growth measurement	height growth measurement
EFO:0004324	EFO:0005201	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0005201	"growth is measured as the difference in body height between two time points" []	208299	\N	\N	EFO	1	EFO	body weights and measures	height growth measurement
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0005201	"growth is measured as the difference in body height between two time points" []	561447	\N	\N	EFO	2	EFO	anthropometric measurement	height growth measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005201	"growth is measured as the difference in body height between two time points" []	1143195	\N	\N	EFO	3	EFO	measurement	height growth measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005201	"growth is measured as the difference in body height between two time points" []	2025897	\N	\N	EFO	4	EFO	information entity	height growth measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005201	"growth is measured as the difference in body height between two time points" []	3178335	\N	\N	EFO	5	EFO	experimental factor	height growth measurement
EFO:0005202	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrochlorothiazide stimulus. " []	EFO:0005202	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrochlorothiazide stimulus. " []	66955	\N	\N	EFO	0	EFO	response to hydrochlorothiazide	response to hydrochlorothiazide
EFO:0007981	EFO:0005202	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thiazide stimulus. Thiazides are a class of diuretics used primarily to treat hypertension and edema." []	EFO:0005202	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrochlorothiazide stimulus. " []	208300	\N	\N	EFO	1	EFO	response to thiazide	response to hydrochlorothiazide
EFO:0005405	EFO:0007981	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antihypertensive drug." []	EFO:0005202	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrochlorothiazide stimulus. " []	561448	\N	\N	EFO	2	EFO	response to antihypertensive drug	response to hydrochlorothiazide
EFO:0005203	\N	\N	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	EFO:0005203	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	66956	\N	\N	EFO	0	EFO	eating disorder	eating disorder
EFO:0000677	EFO:0005203	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005203	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	208301	\N	\N	EFO	1	EFO	mental or behavioural disorder	eating disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005203	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	561449	\N	\N	EFO	2	EFO	brain disease	eating disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005203	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	1143196	\N	\N	EFO	3	EFO	nervous system disease	eating disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005203	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	2025898	\N	\N	EFO	4	EFO	disease	eating disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005203	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	3178336	\N	\N	EFO	5	EFO	disposition	eating disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005203	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	4388173	\N	\N	EFO	6	EFO	material property	eating disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005203	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	5408784	\N	\N	EFO	7	EFO	experimental factor	eating disorder
EFO:0005204	\N	\N	"An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING." []	EFO:0005204	"An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING." []	66957	\N	\N	EFO	0	EFO	bulimia nervosa	bulimia nervosa
EFO:0005203	EFO:0005204	\N	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	EFO:0005204	"An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING." []	208302	\N	\N	EFO	1	EFO	eating disorder	bulimia nervosa
EFO:0000677	EFO:0005203	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005204	"An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING." []	561450	\N	\N	EFO	2	EFO	mental or behavioural disorder	bulimia nervosa
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005204	"An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING." []	1143197	\N	\N	EFO	3	EFO	brain disease	bulimia nervosa
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005204	"An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING." []	2025899	\N	\N	EFO	4	EFO	nervous system disease	bulimia nervosa
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005204	"An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING." []	3178337	\N	\N	EFO	5	EFO	disease	bulimia nervosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005204	"An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING." []	4388174	\N	\N	EFO	6	EFO	disposition	bulimia nervosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005204	"An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING." []	5408785	\N	\N	EFO	7	EFO	material property	bulimia nervosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005204	"An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING." []	6147497	\N	\N	EFO	8	EFO	experimental factor	bulimia nervosa
EFO:0005205	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with dabigatran etexilate, an anticoagulant from the class of direct thrombin inhibitors. Dabigatran is used to prevent strokes in patients with atrial fibrillations due to causes other than heart valve disease, and at least one additional risk factor for stroke,and to prevent the formation of blood clots in the veins in adults who have had an operation to replace a hip or knee." []	EFO:0005205	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with dabigatran etexilate, an anticoagulant from the class of direct thrombin inhibitors. Dabigatran is used to prevent strokes in patients with atrial fibrillations due to causes other than heart valve disease, and at least one additional risk factor for stroke,and to prevent the formation of blood clots in the veins in adults who have had an operation to replace a hip or knee." []	66958	\N	\N	EFO	0	EFO	response to dabigatran etexilate	response to dabigatran etexilate
GO:0061476	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anticoagulant stimulus." [GOC:dph]	EFO:0005205	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with dabigatran etexilate, an anticoagulant from the class of direct thrombin inhibitors. Dabigatran is used to prevent strokes in patients with atrial fibrillations due to causes other than heart valve disease, and at least one additional risk factor for stroke,and to prevent the formation of blood clots in the veins in adults who have had an operation to replace a hip or knee." []	194707	\N	\N	EFO	0	EFO	response to anticoagulant	response to dabigatran etexilate
EFO:0005206	\N	\N	"detection or quantification of bands of immunoglobulins in blood serum or cerebrospinal fluid, usually as an indicator of central nervous system disorders such as multiple sclerosis, Lyme disease, systemic lupus erythematosus or neurosarcoidosis" []	EFO:0005206	"detection or quantification of bands of immunoglobulins in blood serum or cerebrospinal fluid, usually as an indicator of central nervous system disorders such as multiple sclerosis, Lyme disease, systemic lupus erythematosus or neurosarcoidosis" []	66959	\N	\N	EFO	0	EFO	oligoclonal band measurement	oligoclonal band measurement
EFO:0001444	EFO:0005206	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005206	"detection or quantification of bands of immunoglobulins in blood serum or cerebrospinal fluid, usually as an indicator of central nervous system disorders such as multiple sclerosis, Lyme disease, systemic lupus erythematosus or neurosarcoidosis" []	208303	\N	\N	EFO	1	EFO	measurement	oligoclonal band measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005206	"detection or quantification of bands of immunoglobulins in blood serum or cerebrospinal fluid, usually as an indicator of central nervous system disorders such as multiple sclerosis, Lyme disease, systemic lupus erythematosus or neurosarcoidosis" []	561451	\N	\N	EFO	2	EFO	information entity	oligoclonal band measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005206	"detection or quantification of bands of immunoglobulins in blood serum or cerebrospinal fluid, usually as an indicator of central nervous system disorders such as multiple sclerosis, Lyme disease, systemic lupus erythematosus or neurosarcoidosis" []	1143198	\N	\N	EFO	3	EFO	experimental factor	oligoclonal band measurement
EFO:0005207	\N	\N	"any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" []	EFO:0005207	"any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" []	66960	\N	\N	EFO	0	EFO	congenital heart disease	congenital heart disease
EFO:0003777	EFO:0005207	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005207	"any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" []	208304	\N	\N	EFO	1	EFO	heart disease	congenital heart disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005207	"any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" []	561452	\N	\N	EFO	2	EFO	cardiovascular disease	congenital heart disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005207	"any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" []	1143199	\N	\N	EFO	3	EFO	disease	congenital heart disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005207	"any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" []	2025900	\N	\N	EFO	4	EFO	disposition	congenital heart disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005207	"any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" []	3178338	\N	\N	EFO	5	EFO	material property	congenital heart disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005207	"any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" []	4388175	\N	\N	EFO	6	EFO	experimental factor	congenital heart disease
EFO:0005208	\N	\N	"measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test" []	EFO:0005208	"measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test" []	66961	\N	\N	EFO	0	EFO	glomerular filtration rate	glomerular filtration rate
EFO:0004742	EFO:0005208	\N	"Is a quantification of some renal system biomarker" []	EFO:0005208	"measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test" []	208305	\N	\N	EFO	1	EFO	renal system measurement	glomerular filtration rate
EFO:0001444	EFO:0004742	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005208	"measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test" []	561453	\N	\N	EFO	2	EFO	measurement	glomerular filtration rate
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005208	"measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test" []	1143200	\N	\N	EFO	3	EFO	information entity	glomerular filtration rate
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005208	"measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test" []	2025901	\N	\N	EFO	4	EFO	experimental factor	glomerular filtration rate
EFO:0005210	\N	\N	"quantification of the pattern of links between distinct units within a nervous system through neuroimaging techniques such a MRI" []	EFO:0005210	"quantification of the pattern of links between distinct units within a nervous system through neuroimaging techniques such a MRI" []	66962	\N	\N	EFO	0	EFO	brain connectivity measurement	brain connectivity measurement
EFO:0004346	EFO:0005210	\N	"Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan" []	EFO:0005210	"quantification of the pattern of links between distinct units within a nervous system through neuroimaging techniques such a MRI" []	208306	\N	\N	EFO	1	EFO	neuroimaging measurement	brain connectivity measurement
EFO:0001444	EFO:0004346	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005210	"quantification of the pattern of links between distinct units within a nervous system through neuroimaging techniques such a MRI" []	561454	\N	\N	EFO	2	EFO	measurement	brain connectivity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005210	"quantification of the pattern of links between distinct units within a nervous system through neuroimaging techniques such a MRI" []	1143201	\N	\N	EFO	3	EFO	information entity	brain connectivity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005210	"quantification of the pattern of links between distinct units within a nervous system through neuroimaging techniques such a MRI" []	2025902	\N	\N	EFO	4	EFO	experimental factor	brain connectivity measurement
EFO:0005211	\N	\N	"quantification of the rate of hydrolysis of aspirin in blood as an indicator of the therapeutic effectiveness of aspirin" []	EFO:0005211	"quantification of the rate of hydrolysis of aspirin in blood as an indicator of the therapeutic effectiveness of aspirin" []	66963	\N	\N	EFO	0	EFO	aspirin hydrolysis measurement	aspirin hydrolysis measurement
EFO:0001444	EFO:0005211	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005211	"quantification of the rate of hydrolysis of aspirin in blood as an indicator of the therapeutic effectiveness of aspirin" []	208307	\N	\N	EFO	1	EFO	measurement	aspirin hydrolysis measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005211	"quantification of the rate of hydrolysis of aspirin in blood as an indicator of the therapeutic effectiveness of aspirin" []	561455	\N	\N	EFO	2	EFO	information entity	aspirin hydrolysis measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005211	"quantification of the rate of hydrolysis of aspirin in blood as an indicator of the therapeutic effectiveness of aspirin" []	1143202	\N	\N	EFO	3	EFO	experimental factor	aspirin hydrolysis measurement
EFO:0005212	\N	\N	"The standard atmosphere is an international reference pressure defined as 101325 Pa and formerly used as a unit of pressure." []	EFO:0005212	"The standard atmosphere is an international reference pressure defined as 101325 Pa and formerly used as a unit of pressure." []	66964	\N	\N	EFO	0	EFO	atmosphere unit	atmosphere unit
UO:0000109	EFO:0005212	\N	"A unit which is a standard measure of the force applied to a given area." []	EFO:0005212	"The standard atmosphere is an international reference pressure defined as 101325 Pa and formerly used as a unit of pressure." []	208308	\N	\N	EFO	1	EFO	pressure unit	atmosphere unit
UO:0000046	UO:0000109	\N	"A unit which is derived from base units." []	EFO:0005212	"The standard atmosphere is an international reference pressure defined as 101325 Pa and formerly used as a unit of pressure." []	561456	\N	\N	EFO	2	EFO	derived unit	atmosphere unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0005212	"The standard atmosphere is an international reference pressure defined as 101325 Pa and formerly used as a unit of pressure." []	1143203	\N	\N	EFO	3	EFO	unit	atmosphere unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005212	"The standard atmosphere is an international reference pressure defined as 101325 Pa and formerly used as a unit of pressure." []	2025903	\N	\N	EFO	4	EFO	information entity	atmosphere unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005212	"The standard atmosphere is an international reference pressure defined as 101325 Pa and formerly used as a unit of pressure." []	3178339	\N	\N	EFO	5	EFO	experimental factor	atmosphere unit
EFO:0005213	\N	\N	"A measure of the corneal thickness (CCT). This can be measured by contact e.g. ultrasound, confocal microscpy or non contact methods e.g. biometry. Reduced central corneal thickness is used as an indicator for glaucoma." []	EFO:0005213	"A measure of the corneal thickness (CCT). This can be measured by contact e.g. ultrasound, confocal microscpy or non contact methods e.g. biometry. Reduced central corneal thickness is used as an indicator for glaucoma." []	66965	\N	\N	EFO	0	EFO	central corneal thickness	central corneal thickness
EFO:0004731	EFO:0005213	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0005213	"A measure of the corneal thickness (CCT). This can be measured by contact e.g. ultrasound, confocal microscpy or non contact methods e.g. biometry. Reduced central corneal thickness is used as an indicator for glaucoma." []	208309	\N	\N	EFO	1	EFO	eye measurement	central corneal thickness
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005213	"A measure of the corneal thickness (CCT). This can be measured by contact e.g. ultrasound, confocal microscpy or non contact methods e.g. biometry. Reduced central corneal thickness is used as an indicator for glaucoma." []	561457	\N	\N	EFO	2	EFO	measurement	central corneal thickness
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005213	"A measure of the corneal thickness (CCT). This can be measured by contact e.g. ultrasound, confocal microscpy or non contact methods e.g. biometry. Reduced central corneal thickness is used as an indicator for glaucoma." []	1143204	\N	\N	EFO	3	EFO	information entity	central corneal thickness
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005213	"A measure of the corneal thickness (CCT). This can be measured by contact e.g. ultrasound, confocal microscpy or non contact methods e.g. biometry. Reduced central corneal thickness is used as an indicator for glaucoma." []	2025904	\N	\N	EFO	4	EFO	experimental factor	central corneal thickness
EFO:0005214	\N	\N	"A cell line which is a model for neuroblastoma." []	EFO:0005214	"A cell line which is a model for neuroblastoma." []	66966	\N	\N	EFO	0	EFO	neuroblastoma cell line	neuroblastoma cell line
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005214	"A cell line which is a model for neuroblastoma." []	208310	\N	\N	EFO	1	EFO	cell line	neuroblastoma cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005214	"A cell line which is a model for neuroblastoma." []	561458	\N	\N	EFO	2	EFO	material entity	neuroblastoma cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005214	"A cell line which is a model for neuroblastoma." []	1143205	\N	\N	EFO	3	EFO	experimental factor	neuroblastoma cell line
EFO:0005215	\N	\N	"A cell line which is a model for breast adenocarcinoma." []	EFO:0005215	"A cell line which is a model for breast adenocarcinoma." []	66967	\N	\N	EFO	0	EFO	breast adenocarcinoma cell line	breast adenocarcinoma cell line
EFO:0002885	EFO:0005215	\N	"" []	EFO:0005215	"A cell line which is a model for breast adenocarcinoma." []	208311	\N	\N	EFO	1	EFO	breast cancer cell line	breast adenocarcinoma cell line
EFO:0001639	EFO:0002885	\N	"" []	EFO:0005215	"A cell line which is a model for breast adenocarcinoma." []	561459	\N	\N	EFO	2	EFO	cancer cell line	breast adenocarcinoma cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005215	"A cell line which is a model for breast adenocarcinoma." []	1143206	\N	\N	EFO	3	EFO	cell line	breast adenocarcinoma cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005215	"A cell line which is a model for breast adenocarcinoma." []	2025905	\N	\N	EFO	4	EFO	material entity	breast adenocarcinoma cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005215	"A cell line which is a model for breast adenocarcinoma." []	3178340	\N	\N	EFO	5	EFO	experimental factor	breast adenocarcinoma cell line
EFO:0005216	\N	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0005216	"A cell line used as model for hepatocellular carcinoma." []	66968	\N	\N	EFO	0	EFO	hepatoma cell line	hepatoma cell line
EFO:0001639	EFO:0005216	\N	"" []	EFO:0005216	"A cell line used as model for hepatocellular carcinoma." []	208312	\N	\N	EFO	1	EFO	cancer cell line	hepatoma cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005216	"A cell line used as model for hepatocellular carcinoma." []	561460	\N	\N	EFO	2	EFO	cell line	hepatoma cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005216	"A cell line used as model for hepatocellular carcinoma." []	1143207	\N	\N	EFO	3	EFO	material entity	hepatoma cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005216	"A cell line used as model for hepatocellular carcinoma." []	2025906	\N	\N	EFO	4	EFO	experimental factor	hepatoma cell line
EFO:0005217	\N	\N	"A cell line used as a model for cervical adenocarcinoma." []	EFO:0005217	"A cell line used as a model for cervical adenocarcinoma." []	66969	\N	\N	EFO	0	EFO	cervical adenocarcinoma cell line	cervical adenocarcinoma cell line
EFO:0001639	EFO:0005217	\N	"" []	EFO:0005217	"A cell line used as a model for cervical adenocarcinoma." []	208313	\N	\N	EFO	1	EFO	cancer cell line	cervical adenocarcinoma cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005217	"A cell line used as a model for cervical adenocarcinoma." []	561461	\N	\N	EFO	2	EFO	cell line	cervical adenocarcinoma cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005217	"A cell line used as a model for cervical adenocarcinoma." []	1143208	\N	\N	EFO	3	EFO	material entity	cervical adenocarcinoma cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005217	"A cell line used as a model for cervical adenocarcinoma." []	2025907	\N	\N	EFO	4	EFO	experimental factor	cervical adenocarcinoma cell line
EFO:0005218	\N	\N	"A cell line which is used as a model for cervical carcinoma." []	EFO:0005218	"A cell line which is used as a model for cervical carcinoma." []	66970	\N	\N	EFO	0	EFO	cervical carcinoma cell line	cervical carcinoma cell line
EFO:0001639	EFO:0005218	\N	"" []	EFO:0005218	"A cell line which is used as a model for cervical carcinoma." []	208314	\N	\N	EFO	1	EFO	cancer cell line	cervical carcinoma cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005218	"A cell line which is used as a model for cervical carcinoma." []	561462	\N	\N	EFO	2	EFO	cell line	cervical carcinoma cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005218	"A cell line which is used as a model for cervical carcinoma." []	1143209	\N	\N	EFO	3	EFO	material entity	cervical carcinoma cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005218	"A cell line which is used as a model for cervical carcinoma." []	2025908	\N	\N	EFO	4	EFO	experimental factor	cervical carcinoma cell line
EFO:0005219	\N	\N	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	66971	\N	\N	EFO	0	EFO	TraDIS sequencing	TraDIS sequencing
EFO:0001456	EFO:0005219	\N	"An assay with input DNA" []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	208315	\N	\N	EFO	1	EFO	DNA assay	TraDIS sequencing
EFO:0002697	EFO:0005219	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	208316	\N	\N	EFO	1	EFO	assay by high throughput sequencer	TraDIS sequencing
EFO:0004120	EFO:0005219	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	208317	\N	\N	EFO	1	EFO	ArrayExpress experiment type	TraDIS sequencing
EFO:0002772	EFO:0001456	\N	"" []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	561463	\N	\N	EFO	2	EFO	assay by molecule	TraDIS sequencing
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	561464	\N	\N	EFO	2	EFO	assay by sequencer	TraDIS sequencing
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	561465	\N	\N	EFO	2	EFO	experimental process	TraDIS sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	1143210	\N	\N	EFO	3	EFO	assay	TraDIS sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	1143211	\N	\N	EFO	3	EFO	assay by instrument	TraDIS sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	4132670	\N	\N	EFO	6	EFO	planned process	TraDIS sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	3178342	\N	\N	EFO	5	EFO	experimental process	TraDIS sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	2025910	\N	\N	EFO	4	EFO	assay	TraDIS sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	5028340	\N	\N	EFO	7	EFO	process	TraDIS sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005219	"Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants." []	5817368	\N	\N	EFO	8	EFO	experimental factor	TraDIS sequencing
EFO:0005220	\N	\N	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	66972	\N	\N	EFO	0	EFO	pulmonary neuroendocrine tumor	pulmonary neuroendocrine tumor
EFO:0001071	EFO:0005220	\N	"Tumors or cancer of the LUNG." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	208318	\N	\N	EFO	1	EFO	lung carcinoma	pulmonary neuroendocrine tumor
EFO:1001901	EFO:0005220	\N	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	208319	\N	\N	EFO	1	EFO	neuroendocrine neoplasm	pulmonary neuroendocrine tumor
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	561466	\N	\N	EFO	2	EFO	carcinoma	pulmonary neuroendocrine tumor
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	561467	\N	\N	EFO	2	EFO	lung disease	pulmonary neuroendocrine tumor
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	561468	\N	\N	EFO	2	EFO	respiratory system neoplasm	pulmonary neuroendocrine tumor
EFO:0003769	EFO:1001901	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	561469	\N	\N	EFO	2	EFO	endocrine neoplasm	pulmonary neuroendocrine tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	1143213	\N	\N	EFO	3	EFO	cancer	pulmonary neuroendocrine tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	1143214	\N	\N	EFO	3	EFO	epithelial neoplasm	pulmonary neuroendocrine tumor
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	1143215	\N	\N	EFO	3	EFO	respiratory system disease	pulmonary neuroendocrine tumor
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	1143216	\N	\N	EFO	3	EFO	neoplasm	pulmonary neuroendocrine tumor
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	1143217	\N	\N	EFO	3	EFO	respiratory system disease	pulmonary neuroendocrine tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	1143218	\N	\N	EFO	3	EFO	neoplasm	pulmonary neuroendocrine tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	1143219	\N	\N	EFO	3	EFO	endocrine system disease	pulmonary neuroendocrine tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	2025912	\N	\N	EFO	4	EFO	neoplasm	pulmonary neuroendocrine tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	2025913	\N	\N	EFO	4	EFO	neoplasm	pulmonary neuroendocrine tumor
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	2025914	\N	\N	EFO	4	EFO	disease	pulmonary neuroendocrine tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	3178344	\N	\N	EFO	5	EFO	disease	pulmonary neuroendocrine tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	2025916	\N	\N	EFO	4	EFO	disease	pulmonary neuroendocrine tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	4132671	\N	\N	EFO	6	EFO	disposition	pulmonary neuroendocrine tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	5180987	\N	\N	EFO	7	EFO	material property	pulmonary neuroendocrine tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005220	"A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." []	5996602	\N	\N	EFO	8	EFO	experimental factor	pulmonary neuroendocrine tumor
EFO:0005221	\N	\N	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	EFO:0005221	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	66973	\N	\N	EFO	0	EFO	cholangiocarcinoma	cholangiocarcinoma
EFO:0000313	EFO:0005221	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005221	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	208320	\N	\N	EFO	1	EFO	carcinoma	cholangiocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005221	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	561470	\N	\N	EFO	2	EFO	cancer	cholangiocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005221	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	561471	\N	\N	EFO	2	EFO	epithelial neoplasm	cholangiocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005221	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	1143220	\N	\N	EFO	3	EFO	neoplasm	cholangiocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005221	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	1143221	\N	\N	EFO	3	EFO	neoplasm	cholangiocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005221	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	2025917	\N	\N	EFO	4	EFO	disease	cholangiocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005221	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	3178346	\N	\N	EFO	5	EFO	disposition	cholangiocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005221	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	4388177	\N	\N	EFO	6	EFO	material property	cholangiocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005221	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	5408787	\N	\N	EFO	7	EFO	experimental factor	cholangiocarcinoma
EFO:0005222	\N	\N	"An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." []	EFO:0005222	"An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." []	66974	\N	\N	EFO	0	EFO	avian influenza	avian influenza
EFO:0007328	EFO:0005222	\N	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	EFO:0005222	"An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." []	208321	\N	\N	EFO	1	EFO	influenza	avian influenza
EFO:0000684	EFO:0007328	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0005222	"An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." []	561472	\N	\N	EFO	2	EFO	respiratory system disease	avian influenza
EFO:0000763	EFO:0007328	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0005222	"An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." []	561473	\N	\N	EFO	2	EFO	viral disease	avian influenza
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005222	"An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." []	1143222	\N	\N	EFO	3	EFO	disease	avian influenza
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005222	"An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." []	1143223	\N	\N	EFO	3	EFO	infectious disease	avian influenza
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005222	"An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." []	3178348	\N	\N	EFO	5	EFO	disposition	avian influenza
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005222	"An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." []	2025919	\N	\N	EFO	4	EFO	disease	avian influenza
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005222	"An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." []	4132672	\N	\N	EFO	6	EFO	material property	avian influenza
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005222	"An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." []	5180988	\N	\N	EFO	7	EFO	experimental factor	avian influenza
EFO:0005223	\N	\N	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." []	EFO:0005223	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." []	66975	\N	\N	EFO	0	EFO	acute stress reaction	acute stress reaction
EFO:0006788	EFO:0005223	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:0005223	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." []	208322	\N	\N	EFO	1	EFO	anxiety disorder	acute stress reaction
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005223	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." []	561474	\N	\N	EFO	2	EFO	mental or behavioural disorder	acute stress reaction
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005223	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." []	1143224	\N	\N	EFO	3	EFO	brain disease	acute stress reaction
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005223	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." []	2025920	\N	\N	EFO	4	EFO	nervous system disease	acute stress reaction
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005223	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." []	3178349	\N	\N	EFO	5	EFO	disease	acute stress reaction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005223	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." []	4388179	\N	\N	EFO	6	EFO	disposition	acute stress reaction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005223	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." []	5408788	\N	\N	EFO	7	EFO	material property	acute stress reaction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005223	"An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." []	6147498	\N	\N	EFO	8	EFO	experimental factor	acute stress reaction
EFO:0005224	\N	\N	" bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." []	EFO:0005224	" bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." []	66976	\N	\N	EFO	0	EFO	Q fever	Q fever
EFO:0000771	EFO:0005224	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0005224	" bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." []	208323	\N	\N	EFO	1	EFO	bacterial disease	Q fever
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005224	" bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." []	561475	\N	\N	EFO	2	EFO	infectious disease	Q fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005224	" bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." []	1143225	\N	\N	EFO	3	EFO	disease	Q fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005224	" bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." []	2025921	\N	\N	EFO	4	EFO	disposition	Q fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005224	" bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." []	3178350	\N	\N	EFO	5	EFO	material property	Q fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005224	" bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." []	4388180	\N	\N	EFO	6	EFO	experimental factor	Q fever
EFO:0005225	\N	\N	"A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." []	EFO:0005225	"A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." []	66977	\N	\N	EFO	0	EFO	human african trypanosomiasis	human african trypanosomiasis
DOID:10113	EFO:0005225	\N	"A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." []	EFO:0005225	"A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." []	208324	\N	\N	EFO	1	EFO	trypanosomiasis	human african trypanosomiasis
EFO:0001067	DOID:10113	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0005225	"A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." []	561476	\N	\N	EFO	2	EFO	parasitic infection	human african trypanosomiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005225	"A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." []	1143226	\N	\N	EFO	3	EFO	infectious disease	human african trypanosomiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005225	"A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." []	2025922	\N	\N	EFO	4	EFO	disease	human african trypanosomiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005225	"A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." []	3178351	\N	\N	EFO	5	EFO	disposition	human african trypanosomiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005225	"A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." []	4388181	\N	\N	EFO	6	EFO	material property	human african trypanosomiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005225	"A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." []	5408789	\N	\N	EFO	7	EFO	experimental factor	human african trypanosomiasis
EFO:0005226	\N	\N	"An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." []	EFO:0005226	"An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." []	66978	\N	\N	EFO	0	EFO	swine influenza	swine influenza
EFO:0007328	EFO:0005226	\N	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	EFO:0005226	"An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." []	208325	\N	\N	EFO	1	EFO	influenza	swine influenza
EFO:0000684	EFO:0007328	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0005226	"An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." []	561477	\N	\N	EFO	2	EFO	respiratory system disease	swine influenza
EFO:0000763	EFO:0007328	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0005226	"An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." []	561478	\N	\N	EFO	2	EFO	viral disease	swine influenza
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005226	"An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." []	1143227	\N	\N	EFO	3	EFO	disease	swine influenza
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005226	"An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." []	1143228	\N	\N	EFO	3	EFO	infectious disease	swine influenza
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005226	"An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." []	3178353	\N	\N	EFO	5	EFO	disposition	swine influenza
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005226	"An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." []	2025924	\N	\N	EFO	4	EFO	disease	swine influenza
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005226	"An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." []	4132673	\N	\N	EFO	6	EFO	material property	swine influenza
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005226	"An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." []	5180989	\N	\N	EFO	7	EFO	experimental factor	swine influenza
EFO:0005227	\N	\N	"GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." []	EFO:0005227	"GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." []	66979	\N	\N	EFO	0	EFO	GRO-seq	GRO-seq
EFO:0001457	EFO:0005227	\N	"An assay with input RNA" []	EFO:0005227	"GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." []	208326	\N	\N	EFO	1	EFO	RNA assay	GRO-seq
EFO:0003740	EFO:0005227	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0005227	"GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." []	208327	\N	\N	EFO	1	EFO	assay by sequencer	GRO-seq
EFO:0002772	EFO:0001457	\N	"" []	EFO:0005227	"GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." []	561479	\N	\N	EFO	2	EFO	assay by molecule	GRO-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0005227	"GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." []	561480	\N	\N	EFO	2	EFO	assay by instrument	GRO-seq
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005227	"GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." []	1143229	\N	\N	EFO	3	EFO	assay	GRO-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005227	"GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." []	1143230	\N	\N	EFO	3	EFO	assay	GRO-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005227	"GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." []	2025925	\N	\N	EFO	4	EFO	experimental process	GRO-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005227	"GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." []	3178354	\N	\N	EFO	5	EFO	planned process	GRO-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005227	"GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." []	4388183	\N	\N	EFO	6	EFO	process	GRO-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005227	"GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." []	5408790	\N	\N	EFO	7	EFO	experimental factor	GRO-seq
EFO:0005228	\N	\N	"A plant population is a grouping of plants consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0005228	"A plant population is a grouping of plants consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	66980	\N	\N	EFO	0	EFO	plant population	plant population
OBI:0000181	EFO:0005228	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0005228	"A plant population is a grouping of plants consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	208328	\N	\N	EFO	1	EFO	population	plant population
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005228	"A plant population is a grouping of plants consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	561481	\N	\N	EFO	2	EFO	material entity	plant population
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005228	"A plant population is a grouping of plants consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	1143231	\N	\N	EFO	3	EFO	experimental factor	plant population
EFO:0005229	\N	\N	"reading is the complex cognitive process of decoding symbols in order to construct or derive meaning" []	EFO:0005229	"reading is the complex cognitive process of decoding symbols in order to construct or derive meaning" []	66981	\N	\N	EFO	0	EFO	reading	reading
EFO:0003925	EFO:0005229	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0005229	"reading is the complex cognitive process of decoding symbols in order to construct or derive meaning" []	208329	\N	\N	EFO	1	EFO	cognition	reading
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0005229	"reading is the complex cognitive process of decoding symbols in order to construct or derive meaning" []	561482	\N	\N	EFO	2	EFO	mental process	reading
EFO:0005230	\N	\N	"Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus." []	EFO:0005230	"Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus." []	66982	\N	\N	EFO	0	EFO	anxiety	anxiety
HP:0000708	\N	\N	"An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson]	EFO:0005230	"Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus." []	194708	\N	\N	EFO	0	EFO	Behavioral abnormality	anxiety
EFO:0005231	\N	\N	"An established epithelial cell line derived from an adenocarcinoma of human endometrial lining." []	EFO:0005231	"An established epithelial cell line derived from an adenocarcinoma of human endometrial lining." []	66983	\N	\N	EFO	0	EFO	ECC-1	ECC-1
EFO:0001639	EFO:0005231	\N	"" []	EFO:0005231	"An established epithelial cell line derived from an adenocarcinoma of human endometrial lining." []	208330	\N	\N	EFO	1	EFO	cancer cell line	ECC-1
EFO:0001641	EFO:0005231	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005231	"An established epithelial cell line derived from an adenocarcinoma of human endometrial lining." []	208331	\N	\N	EFO	1	EFO	epithelial cell derived cell line	ECC-1
EFO:0002888	EFO:0005231	\N	"" []	EFO:0005231	"An established epithelial cell line derived from an adenocarcinoma of human endometrial lining." []	208332	\N	\N	EFO	1	EFO	Homo sapiens cell line	ECC-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005231	"An established epithelial cell line derived from an adenocarcinoma of human endometrial lining." []	561483	\N	\N	EFO	2	EFO	cell line	ECC-1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005231	"An established epithelial cell line derived from an adenocarcinoma of human endometrial lining." []	561484	\N	\N	EFO	2	EFO	cell line	ECC-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005231	"An established epithelial cell line derived from an adenocarcinoma of human endometrial lining." []	561485	\N	\N	EFO	2	EFO	cell line	ECC-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005231	"An established epithelial cell line derived from an adenocarcinoma of human endometrial lining." []	1143232	\N	\N	EFO	3	EFO	material entity	ECC-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005231	"An established epithelial cell line derived from an adenocarcinoma of human endometrial lining." []	2025926	\N	\N	EFO	4	EFO	experimental factor	ECC-1
EFO:0005232	\N	\N	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	66984	\N	\N	EFO	0	EFO	endometrium adenocarcinoma	endometrium adenocarcinoma
EFO:0000228	EFO:0005232	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	208333	\N	\N	EFO	1	EFO	adenocarcinoma	endometrium adenocarcinoma
EFO:1001512	EFO:0005232	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	208334	\N	\N	EFO	1	EFO	endometrial carcinoma	endometrium adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	561486	\N	\N	EFO	2	EFO	carcinoma	endometrium adenocarcinoma
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	561487	\N	\N	EFO	2	EFO	carcinoma	endometrium adenocarcinoma
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	561488	\N	\N	EFO	2	EFO	endometrial neoplasm	endometrium adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	1143233	\N	\N	EFO	3	EFO	cancer	endometrium adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	1143234	\N	\N	EFO	3	EFO	epithelial neoplasm	endometrium adenocarcinoma
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	1143235	\N	\N	EFO	3	EFO	uterine neoplasm	endometrium adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	2025927	\N	\N	EFO	4	EFO	neoplasm	endometrium adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	2025928	\N	\N	EFO	4	EFO	neoplasm	endometrium adenocarcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	2025929	\N	\N	EFO	4	EFO	reproductive system disease	endometrium adenocarcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	2025930	\N	\N	EFO	4	EFO	urogenital neoplasm	endometrium adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	4388185	\N	\N	EFO	6	EFO	disease	endometrium adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	3178356	\N	\N	EFO	5	EFO	disease	endometrium adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	3178357	\N	\N	EFO	5	EFO	neoplasm	endometrium adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	5180990	\N	\N	EFO	7	EFO	disposition	endometrium adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	5996603	\N	\N	EFO	8	EFO	material property	endometrium adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005232	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	6550377	\N	\N	EFO	9	EFO	experimental factor	endometrium adenocarcinoma
EFO:0005233	\N	\N	"The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." []	EFO:0005233	"The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." []	66985	\N	\N	EFO	0	EFO	CH12.LX	CH12.LX
EFO:0001640	EFO:0005233	\N	"" []	EFO:0005233	"The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." []	208335	\N	\N	EFO	1	EFO	B cell derived cell line	CH12.LX
EFO:0002887	EFO:0005233	\N	"Cell lines derived from mice." []	EFO:0005233	"The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." []	208336	\N	\N	EFO	1	EFO	mouse cell line	CH12.LX
EFO:0002937	EFO:0005233	\N	"" []	EFO:0005233	"The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." []	208337	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	CH12.LX
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005233	"The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." []	561489	\N	\N	EFO	2	EFO	cell line	CH12.LX
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005233	"The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." []	561490	\N	\N	EFO	2	EFO	cell line	CH12.LX
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005233	"The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." []	561491	\N	\N	EFO	2	EFO	cancer cell line	CH12.LX
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005233	"The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." []	2025932	\N	\N	EFO	4	EFO	material entity	CH12.LX
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005233	"The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." []	1143237	\N	\N	EFO	3	EFO	cell line	CH12.LX
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005233	"The CH12.LX B cell line derived from the murine CH12 B cell lymphoma." []	2999620	\N	\N	EFO	5	EFO	experimental factor	CH12.LX
EFO:0005234	\N	\N	"Neuroectodermal cell line derived from a cerebral brain tumor." []	EFO:0005234	"Neuroectodermal cell line derived from a cerebral brain tumor." []	66986	\N	\N	EFO	0	EFO	PFSK-1	PFSK-1
EFO:0002009	EFO:0005234	\N	"" []	EFO:0005234	"Neuroectodermal cell line derived from a cerebral brain tumor." []	208338	\N	\N	EFO	1	EFO	fibroblast derived cell line	PFSK-1
EFO:0002888	EFO:0005234	\N	"" []	EFO:0005234	"Neuroectodermal cell line derived from a cerebral brain tumor." []	208339	\N	\N	EFO	1	EFO	Homo sapiens cell line	PFSK-1
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005234	"Neuroectodermal cell line derived from a cerebral brain tumor." []	561492	\N	\N	EFO	2	EFO	cell line	PFSK-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005234	"Neuroectodermal cell line derived from a cerebral brain tumor." []	561493	\N	\N	EFO	2	EFO	cell line	PFSK-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005234	"Neuroectodermal cell line derived from a cerebral brain tumor." []	1143238	\N	\N	EFO	3	EFO	material entity	PFSK-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005234	"Neuroectodermal cell line derived from a cerebral brain tumor." []	2025933	\N	\N	EFO	4	EFO	experimental factor	PFSK-1
EFO:0005235	\N	\N	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	EFO:0005235	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	66987	\N	\N	EFO	0	EFO	primitive neuroectodermal tumor	primitive neuroectodermal tumor
EFO:0003833	EFO:0005235	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0005235	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	208340	\N	\N	EFO	1	EFO	brain neoplasm	primitive neuroectodermal tumor
EFO:0005784	EFO:0005235	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:0005235	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	208341	\N	\N	EFO	1	EFO	embryonal neoplasm	primitive neuroectodermal tumor
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005235	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	561494	\N	\N	EFO	2	EFO	neoplasm	primitive neuroectodermal tumor
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0005235	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	561495	\N	\N	EFO	2	EFO	brain disease	primitive neuroectodermal tumor
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005235	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	561496	\N	\N	EFO	2	EFO	neoplasm	primitive neuroectodermal tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005235	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	1143239	\N	\N	EFO	3	EFO	disease	primitive neuroectodermal tumor
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005235	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	1143240	\N	\N	EFO	3	EFO	nervous system disease	primitive neuroectodermal tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005235	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	3178359	\N	\N	EFO	5	EFO	disposition	primitive neuroectodermal tumor
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005235	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	2025935	\N	\N	EFO	4	EFO	disease	primitive neuroectodermal tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005235	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	4132674	\N	\N	EFO	6	EFO	material property	primitive neuroectodermal tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005235	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	5180991	\N	\N	EFO	7	EFO	experimental factor	primitive neuroectodermal tumor
EFO:0005236	\N	\N	" The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung" []	EFO:0005236	" The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung" []	66988	\N	\N	EFO	0	EFO	NT2/D1	NT2/D1
EFO:0001639	EFO:0005236	\N	"" []	EFO:0005236	" The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung" []	208342	\N	\N	EFO	1	EFO	cancer cell line	NT2/D1
EFO:0001641	EFO:0005236	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005236	" The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung" []	208343	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NT2/D1
EFO:0002888	EFO:0005236	\N	"" []	EFO:0005236	" The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung" []	208344	\N	\N	EFO	1	EFO	Homo sapiens cell line	NT2/D1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005236	" The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung" []	561497	\N	\N	EFO	2	EFO	cell line	NT2/D1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005236	" The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung" []	561498	\N	\N	EFO	2	EFO	cell line	NT2/D1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005236	" The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung" []	561499	\N	\N	EFO	2	EFO	cell line	NT2/D1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005236	" The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung" []	1143241	\N	\N	EFO	3	EFO	material entity	NT2/D1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005236	" The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung" []	2025936	\N	\N	EFO	4	EFO	experimental factor	NT2/D1
EFO:0005237	\N	\N	"A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma." []	EFO:0005237	"A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma." []	66989	\N	\N	EFO	0	EFO	U-87 MG	U-87 MG
EFO:0001639	EFO:0005237	\N	"" []	EFO:0005237	"A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma." []	208345	\N	\N	EFO	1	EFO	cancer cell line	U-87 MG
EFO:0001641	EFO:0005237	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005237	"A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma." []	208346	\N	\N	EFO	1	EFO	epithelial cell derived cell line	U-87 MG
EFO:0002888	EFO:0005237	\N	"" []	EFO:0005237	"A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma." []	208347	\N	\N	EFO	1	EFO	Homo sapiens cell line	U-87 MG
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005237	"A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma." []	561500	\N	\N	EFO	2	EFO	cell line	U-87 MG
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005237	"A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma." []	561501	\N	\N	EFO	2	EFO	cell line	U-87 MG
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005237	"A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma." []	561502	\N	\N	EFO	2	EFO	cell line	U-87 MG
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005237	"A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma." []	1143242	\N	\N	EFO	3	EFO	material entity	U-87 MG
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005237	"A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma." []	2025937	\N	\N	EFO	4	EFO	experimental factor	U-87 MG
EFO:0005238	\N	\N	"A breed is a specific group of domestic animals or plants having homogeneous appearance, homogeneous behavior, and other characteristics that distinguish it from other animals or plants of the same species and that were arrived at through selective breeding." []	EFO:0005238	"A breed is a specific group of domestic animals or plants having homogeneous appearance, homogeneous behavior, and other characteristics that distinguish it from other animals or plants of the same species and that were arrived at through selective breeding." []	66990	\N	\N	EFO	0	EFO	breed	breed
OBI:0000181	EFO:0005238	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0005238	"A breed is a specific group of domestic animals or plants having homogeneous appearance, homogeneous behavior, and other characteristics that distinguish it from other animals or plants of the same species and that were arrived at through selective breeding." []	208348	\N	\N	EFO	1	EFO	population	breed
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005238	"A breed is a specific group of domestic animals or plants having homogeneous appearance, homogeneous behavior, and other characteristics that distinguish it from other animals or plants of the same species and that were arrived at through selective breeding." []	561503	\N	\N	EFO	2	EFO	material entity	breed
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005238	"A breed is a specific group of domestic animals or plants having homogeneous appearance, homogeneous behavior, and other characteristics that distinguish it from other animals or plants of the same species and that were arrived at through selective breeding." []	1143243	\N	\N	EFO	3	EFO	experimental factor	breed
EFO:0005239	\N	\N	"calcification of the aortic valve" []	EFO:0005239	"calcification of the aortic valve" []	66991	\N	\N	EFO	0	EFO	aortic valve calcification	aortic valve calcification
EFO:0003777	EFO:0005239	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005239	"calcification of the aortic valve" []	208349	\N	\N	EFO	1	EFO	heart disease	aortic valve calcification
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005239	"calcification of the aortic valve" []	561504	\N	\N	EFO	2	EFO	cardiovascular disease	aortic valve calcification
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005239	"calcification of the aortic valve" []	1143244	\N	\N	EFO	3	EFO	disease	aortic valve calcification
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005239	"calcification of the aortic valve" []	2025938	\N	\N	EFO	4	EFO	disposition	aortic valve calcification
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005239	"calcification of the aortic valve" []	3178360	\N	\N	EFO	5	EFO	material property	aortic valve calcification
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005239	"calcification of the aortic valve" []	4388187	\N	\N	EFO	6	EFO	experimental factor	aortic valve calcification
EFO:0005240	\N	\N	"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." []	EFO:0005240	"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." []	66992	\N	\N	EFO	0	EFO	rhegmatogenous retinal detachment	rhegmatogenous retinal detachment
EFO:0005773	EFO:0005240	\N	"Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." []	EFO:0005240	"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." []	208350	\N	\N	EFO	1	EFO	retinal detachment	rhegmatogenous retinal detachment
EFO:0003839	EFO:0005773	\N	"Any disease or disorder of the retina." []	EFO:0005240	"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." []	561505	\N	\N	EFO	2	EFO	retinopathy	rhegmatogenous retinal detachment
EFO:0000524	EFO:0003839	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0005240	"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." []	1143245	\N	\N	EFO	3	EFO	head disease	rhegmatogenous retinal detachment
EFO:0003966	EFO:0003839	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0005240	"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." []	1143246	\N	\N	EFO	3	EFO	eye disease	rhegmatogenous retinal detachment
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005240	"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." []	2025939	\N	\N	EFO	4	EFO	disease	rhegmatogenous retinal detachment
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005240	"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." []	2025940	\N	\N	EFO	4	EFO	disease	rhegmatogenous retinal detachment
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005240	"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." []	3178361	\N	\N	EFO	5	EFO	disposition	rhegmatogenous retinal detachment
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005240	"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." []	4388188	\N	\N	EFO	6	EFO	material property	rhegmatogenous retinal detachment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005240	"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." []	5408792	\N	\N	EFO	7	EFO	experimental factor	rhegmatogenous retinal detachment
EFO:0005241	\N	\N	"quantification of an individual's occupation, both in terms of employment vs unemployment and in terms of nature of employment, eg self-employment" []	EFO:0005241	"quantification of an individual's occupation, both in terms of employment vs unemployment and in terms of nature of employment, eg self-employment" []	66993	\N	\N	EFO	0	EFO	employment status	employment status
EFO:0001444	EFO:0005241	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005241	"quantification of an individual's occupation, both in terms of employment vs unemployment and in terms of nature of employment, eg self-employment" []	208351	\N	\N	EFO	1	EFO	measurement	employment status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005241	"quantification of an individual's occupation, both in terms of employment vs unemployment and in terms of nature of employment, eg self-employment" []	561506	\N	\N	EFO	2	EFO	information entity	employment status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005241	"quantification of an individual's occupation, both in terms of employment vs unemployment and in terms of nature of employment, eg self-employment" []	1143247	\N	\N	EFO	3	EFO	experimental factor	employment status
EFO:0005242	\N	\N	"abnormal mental state resulting from an abuse of methamphetamine" []	EFO:0005242	"abnormal mental state resulting from an abuse of methamphetamine" []	66994	\N	\N	EFO	0	EFO	methamphetamine-induced psychosis	methamphetamine-induced psychosis
EFO:0000677	EFO:0005242	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005242	"abnormal mental state resulting from an abuse of methamphetamine" []	208352	\N	\N	EFO	1	EFO	mental or behavioural disorder	methamphetamine-induced psychosis
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005242	"abnormal mental state resulting from an abuse of methamphetamine" []	561507	\N	\N	EFO	2	EFO	brain disease	methamphetamine-induced psychosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005242	"abnormal mental state resulting from an abuse of methamphetamine" []	1143248	\N	\N	EFO	3	EFO	nervous system disease	methamphetamine-induced psychosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005242	"abnormal mental state resulting from an abuse of methamphetamine" []	2025941	\N	\N	EFO	4	EFO	disease	methamphetamine-induced psychosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005242	"abnormal mental state resulting from an abuse of methamphetamine" []	3178362	\N	\N	EFO	5	EFO	disposition	methamphetamine-induced psychosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005242	"abnormal mental state resulting from an abuse of methamphetamine" []	4388189	\N	\N	EFO	6	EFO	material property	methamphetamine-induced psychosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005242	"abnormal mental state resulting from an abuse of methamphetamine" []	5408793	\N	\N	EFO	7	EFO	experimental factor	methamphetamine-induced psychosis
EFO:0005243	\N	\N	"quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease" []	EFO:0005243	"quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease" []	66995	\N	\N	EFO	0	EFO	myeloperoxidase measurement	myeloperoxidase measurement
EFO:0004747	EFO:0005243	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005243	"quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease" []	208353	\N	\N	EFO	1	EFO	protein measurement	myeloperoxidase measurement
EFO:0005278	EFO:0005243	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005243	"quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease" []	208354	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	myeloperoxidase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005243	"quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease" []	561508	\N	\N	EFO	2	EFO	measurement	myeloperoxidase measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005243	"quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease" []	561509	\N	\N	EFO	2	EFO	cardiovascular measurement	myeloperoxidase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005243	"quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease" []	2025943	\N	\N	EFO	4	EFO	information entity	myeloperoxidase measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005243	"quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease" []	1143250	\N	\N	EFO	3	EFO	measurement	myeloperoxidase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005243	"quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease" []	2999621	\N	\N	EFO	5	EFO	experimental factor	myeloperoxidase measurement
EFO:0005244	\N	\N	"any of a group of similar operations that first divides the stomach into a small upper pouch and a much larger lower \\"remnant\\" pouch and then re-arranges the small intestine to connect to bot" []	EFO:0005244	"any of a group of similar operations that first divides the stomach into a small upper pouch and a much larger lower \\"remnant\\" pouch and then re-arranges the small intestine to connect to bot" []	66996	\N	\N	EFO	0	EFO	gastric bypass	gastric bypass
EFO:0002571	EFO:0005244	\N	"An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects." []	EFO:0005244	"any of a group of similar operations that first divides the stomach into a small upper pouch and a much larger lower \\"remnant\\" pouch and then re-arranges the small intestine to connect to bot" []	208355	\N	\N	EFO	1	EFO	medical procedure	gastric bypass
EFO:0002694	EFO:0002571	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005244	"any of a group of similar operations that first divides the stomach into a small upper pouch and a much larger lower \\"remnant\\" pouch and then re-arranges the small intestine to connect to bot" []	561510	\N	\N	EFO	2	EFO	experimental process	gastric bypass
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005244	"any of a group of similar operations that first divides the stomach into a small upper pouch and a much larger lower \\"remnant\\" pouch and then re-arranges the small intestine to connect to bot" []	1143251	\N	\N	EFO	3	EFO	planned process	gastric bypass
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005244	"any of a group of similar operations that first divides the stomach into a small upper pouch and a much larger lower \\"remnant\\" pouch and then re-arranges the small intestine to connect to bot" []	2025944	\N	\N	EFO	4	EFO	process	gastric bypass
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005244	"any of a group of similar operations that first divides the stomach into a small upper pouch and a much larger lower \\"remnant\\" pouch and then re-arranges the small intestine to connect to bot" []	3178363	\N	\N	EFO	5	EFO	experimental factor	gastric bypass
EFO:0005245	\N	\N	"the process of decreasing the mass of an organsim over time" []	EFO:0005245	"the process of decreasing the mass of an organsim over time" []	66997	\N	\N	EFO	0	EFO	body weight loss	body weight loss
HP:0004323	\N	\N	"An abnormal increase or decrease of weight or an abnormal distribution of mass in the body." [HPO:probinson]	EFO:0005245	"the process of decreasing the mass of an organsim over time" []	194709	\N	\N	EFO	0	EFO	Abnormality of body weight	body weight loss
EFO:0005246	\N	\N	"a large group of disorders characterized by excessive daytime sleepiness" []	EFO:0005246	"a large group of disorders characterized by excessive daytime sleepiness" []	66998	\N	\N	EFO	0	EFO	hypersomnia	hypersomnia
EFO:0000618	EFO:0005246	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005246	"a large group of disorders characterized by excessive daytime sleepiness" []	208356	\N	\N	EFO	1	EFO	nervous system disease	hypersomnia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005246	"a large group of disorders characterized by excessive daytime sleepiness" []	561511	\N	\N	EFO	2	EFO	disease	hypersomnia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005246	"a large group of disorders characterized by excessive daytime sleepiness" []	1143252	\N	\N	EFO	3	EFO	disposition	hypersomnia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005246	"a large group of disorders characterized by excessive daytime sleepiness" []	2025945	\N	\N	EFO	4	EFO	material property	hypersomnia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005246	"a large group of disorders characterized by excessive daytime sleepiness" []	3178364	\N	\N	EFO	5	EFO	experimental factor	hypersomnia
EFO:0005247	\N	\N	"measurement of the IgG antibody isotype produced by plasma cells in response to a Heliobacter pylori infection" []	EFO:0005247	"measurement of the IgG antibody isotype produced by plasma cells in response to a Heliobacter pylori infection" []	66999	\N	\N	EFO	0	EFO	anti-Heliobacter pylori serum IgG measurement	anti-Heliobacter pylori serum IgG measurement
EFO:0004565	EFO:0005247	\N	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	EFO:0005247	"measurement of the IgG antibody isotype produced by plasma cells in response to a Heliobacter pylori infection" []	208357	\N	\N	EFO	1	EFO	serum IgG measurement	anti-Heliobacter pylori serum IgG measurement
EFO:0004556	EFO:0004565	\N	"Is the quantification of some antibody" []	EFO:0005247	"measurement of the IgG antibody isotype produced by plasma cells in response to a Heliobacter pylori infection" []	561512	\N	\N	EFO	2	EFO	antibody measurement	anti-Heliobacter pylori serum IgG measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005247	"measurement of the IgG antibody isotype produced by plasma cells in response to a Heliobacter pylori infection" []	1143253	\N	\N	EFO	3	EFO	measurement	anti-Heliobacter pylori serum IgG measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005247	"measurement of the IgG antibody isotype produced by plasma cells in response to a Heliobacter pylori infection" []	2025946	\N	\N	EFO	4	EFO	information entity	anti-Heliobacter pylori serum IgG measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005247	"measurement of the IgG antibody isotype produced by plasma cells in response to a Heliobacter pylori infection" []	3178365	\N	\N	EFO	5	EFO	experimental factor	anti-Heliobacter pylori serum IgG measurement
EFO:0005250	\N	\N	"The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." []	EFO:0005250	"The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." []	67000	\N	\N	EFO	0	EFO	occupation-related stress disorder	occupation-related stress disorder
EFO:0000677	EFO:0005250	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005250	"The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." []	208358	\N	\N	EFO	1	EFO	mental or behavioural disorder	occupation-related stress disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005250	"The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." []	561513	\N	\N	EFO	2	EFO	brain disease	occupation-related stress disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005250	"The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." []	1143254	\N	\N	EFO	3	EFO	nervous system disease	occupation-related stress disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005250	"The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." []	2025947	\N	\N	EFO	4	EFO	disease	occupation-related stress disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005250	"The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." []	3178366	\N	\N	EFO	5	EFO	disposition	occupation-related stress disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005250	"The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." []	4388190	\N	\N	EFO	6	EFO	material property	occupation-related stress disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005250	"The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." []	5408794	\N	\N	EFO	7	EFO	experimental factor	occupation-related stress disorder
EFO:0005251	\N	\N	"Blood pressure that is abnormally low." []	EFO:0005251	"Blood pressure that is abnormally low." []	67001	\N	\N	EFO	0	EFO	hypotension	hypotension
EFO:0000319	EFO:0005251	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005251	"Blood pressure that is abnormally low." []	208359	\N	\N	EFO	1	EFO	cardiovascular disease	hypotension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005251	"Blood pressure that is abnormally low." []	561514	\N	\N	EFO	2	EFO	disease	hypotension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005251	"Blood pressure that is abnormally low." []	1143255	\N	\N	EFO	3	EFO	disposition	hypotension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005251	"Blood pressure that is abnormally low." []	2025948	\N	\N	EFO	4	EFO	material property	hypotension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005251	"Blood pressure that is abnormally low." []	3178367	\N	\N	EFO	5	EFO	experimental factor	hypotension
EFO:0005252	\N	\N	"Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." []	EFO:0005252	"Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." []	67002	\N	\N	EFO	0	EFO	orthostatic hypotension	orthostatic hypotension
EFO:0005251	EFO:0005252	\N	"Blood pressure that is abnormally low." []	EFO:0005252	"Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." []	208360	\N	\N	EFO	1	EFO	hypotension	orthostatic hypotension
EFO:0000319	EFO:0005251	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005252	"Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." []	561515	\N	\N	EFO	2	EFO	cardiovascular disease	orthostatic hypotension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005252	"Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." []	1143256	\N	\N	EFO	3	EFO	disease	orthostatic hypotension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005252	"Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." []	2025949	\N	\N	EFO	4	EFO	disposition	orthostatic hypotension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005252	"Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." []	3178368	\N	\N	EFO	5	EFO	material property	orthostatic hypotension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005252	"Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." []	4388191	\N	\N	EFO	6	EFO	experimental factor	orthostatic hypotension
EFO:0005253	\N	\N	"drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines " []	EFO:0005253	"drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines " []	67003	\N	\N	EFO	0	EFO	postprandial hypotension	postprandial hypotension
EFO:0005251	EFO:0005253	\N	"Blood pressure that is abnormally low." []	EFO:0005253	"drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines " []	208361	\N	\N	EFO	1	EFO	hypotension	postprandial hypotension
EFO:0000319	EFO:0005251	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005253	"drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines " []	561516	\N	\N	EFO	2	EFO	cardiovascular disease	postprandial hypotension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005253	"drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines " []	1143257	\N	\N	EFO	3	EFO	disease	postprandial hypotension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005253	"drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines " []	2025950	\N	\N	EFO	4	EFO	disposition	postprandial hypotension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005253	"drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines " []	3178369	\N	\N	EFO	5	EFO	material property	postprandial hypotension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005253	"drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines " []	4388192	\N	\N	EFO	6	EFO	experimental factor	postprandial hypotension
EFO:0005254	\N	\N	"Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" []	EFO:0005254	"Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" []	67004	\N	\N	EFO	0	EFO	neurally mediated hypotension	neurally mediated hypotension
EFO:0005251	EFO:0005254	\N	"Blood pressure that is abnormally low." []	EFO:0005254	"Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" []	208362	\N	\N	EFO	1	EFO	hypotension	neurally mediated hypotension
EFO:0000319	EFO:0005251	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005254	"Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" []	561517	\N	\N	EFO	2	EFO	cardiovascular disease	neurally mediated hypotension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005254	"Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" []	1143258	\N	\N	EFO	3	EFO	disease	neurally mediated hypotension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005254	"Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" []	2025951	\N	\N	EFO	4	EFO	disposition	neurally mediated hypotension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005254	"Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" []	3178370	\N	\N	EFO	5	EFO	material property	neurally mediated hypotension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005254	"Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" []	4388193	\N	\N	EFO	6	EFO	experimental factor	neurally mediated hypotension
EFO:0005257	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anthracycline-based chemotherapy stimulus." []	EFO:0005257	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anthracycline-based chemotherapy stimulus." []	67005	\N	\N	EFO	0	EFO	response to anthracycline-based chemotherapy	response to anthracycline-based chemotherapy
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0005257	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anthracycline-based chemotherapy stimulus." []	194710	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to anthracycline-based chemotherapy
EFO:0005260	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antimicrotubule agent stimulus." []	EFO:0005260	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antimicrotubule agent stimulus." []	67006	\N	\N	EFO	0	EFO	response to antimicrotubule agent	response to antimicrotubule agent
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0005260	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antimicrotubule agent stimulus." []	194711	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to antimicrotubule agent
EFO:0005262	\N	\N	"degenerative calcification of the mitral valve ring, often used as a marker of severe coronary artery disease " []	EFO:0005262	"degenerative calcification of the mitral valve ring, often used as a marker of severe coronary artery disease " []	67007	\N	\N	EFO	0	EFO	mitral annular calcification	mitral annular calcification
HP:0001626	\N	\N	"Any abnormality of the cardiovascular system." [HPO:probinson]	EFO:0005262	"degenerative calcification of the mitral valve ring, often used as a marker of severe coronary artery disease " []	194712	\N	\N	EFO	0	EFO	Abnormality of the cardiovascular system	mitral annular calcification
EFO:0005263	\N	\N	"TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer." []	EFO:0005263	"TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer." []	67008	\N	\N	EFO	0	EFO	TOV-112D	TOV-112D
EFO:0001639	EFO:0005263	\N	"" []	EFO:0005263	"TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer." []	208363	\N	\N	EFO	1	EFO	cancer cell line	TOV-112D
EFO:0001641	EFO:0005263	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005263	"TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer." []	208364	\N	\N	EFO	1	EFO	epithelial cell derived cell line	TOV-112D
EFO:0002888	EFO:0005263	\N	"" []	EFO:0005263	"TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer." []	208365	\N	\N	EFO	1	EFO	Homo sapiens cell line	TOV-112D
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005263	"TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer." []	561518	\N	\N	EFO	2	EFO	cell line	TOV-112D
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005263	"TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer." []	561519	\N	\N	EFO	2	EFO	cell line	TOV-112D
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005263	"TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer." []	561520	\N	\N	EFO	2	EFO	cell line	TOV-112D
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005263	"TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer." []	1143259	\N	\N	EFO	3	EFO	material entity	TOV-112D
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005263	"TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer." []	2025952	\N	\N	EFO	4	EFO	experimental factor	TOV-112D
EFO:0005264	\N	\N	"The ectocervical Ect1/E6E7 (ATCC CRL-2614) and endocervical End1/E6E7 (ATCC CRL-2615) cell lines were established in 1996 from normal epithelial tissue taken from a premenopausal woman undergoing hysterectomy for endometriosis." []	EFO:0005264	"The ectocervical Ect1/E6E7 (ATCC CRL-2614) and endocervical End1/E6E7 (ATCC CRL-2615) cell lines were established in 1996 from normal epithelial tissue taken from a premenopausal woman undergoing hysterectomy for endometriosis." []	67009	\N	\N	EFO	0	EFO	Ect1	Ect1
EFO:0001641	EFO:0005264	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005264	"The ectocervical Ect1/E6E7 (ATCC CRL-2614) and endocervical End1/E6E7 (ATCC CRL-2615) cell lines were established in 1996 from normal epithelial tissue taken from a premenopausal woman undergoing hysterectomy for endometriosis." []	208366	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Ect1
EFO:0002888	EFO:0005264	\N	"" []	EFO:0005264	"The ectocervical Ect1/E6E7 (ATCC CRL-2614) and endocervical End1/E6E7 (ATCC CRL-2615) cell lines were established in 1996 from normal epithelial tissue taken from a premenopausal woman undergoing hysterectomy for endometriosis." []	208367	\N	\N	EFO	1	EFO	Homo sapiens cell line	Ect1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005264	"The ectocervical Ect1/E6E7 (ATCC CRL-2614) and endocervical End1/E6E7 (ATCC CRL-2615) cell lines were established in 1996 from normal epithelial tissue taken from a premenopausal woman undergoing hysterectomy for endometriosis." []	561521	\N	\N	EFO	2	EFO	cell line	Ect1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005264	"The ectocervical Ect1/E6E7 (ATCC CRL-2614) and endocervical End1/E6E7 (ATCC CRL-2615) cell lines were established in 1996 from normal epithelial tissue taken from a premenopausal woman undergoing hysterectomy for endometriosis." []	561522	\N	\N	EFO	2	EFO	cell line	Ect1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005264	"The ectocervical Ect1/E6E7 (ATCC CRL-2614) and endocervical End1/E6E7 (ATCC CRL-2615) cell lines were established in 1996 from normal epithelial tissue taken from a premenopausal woman undergoing hysterectomy for endometriosis." []	1143260	\N	\N	EFO	3	EFO	material entity	Ect1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005264	"The ectocervical Ect1/E6E7 (ATCC CRL-2614) and endocervical End1/E6E7 (ATCC CRL-2615) cell lines were established in 1996 from normal epithelial tissue taken from a premenopausal woman undergoing hysterectomy for endometriosis." []	2025953	\N	\N	EFO	4	EFO	experimental factor	Ect1
EFO:0005265	\N	\N	"MOLT-3 is a male human malignant T-lymphoblastic cell line." []	EFO:0005265	"MOLT-3 is a male human malignant T-lymphoblastic cell line." []	67010	\N	\N	EFO	0	EFO	MOLT-3	MOLT-3
EFO:0001639	EFO:0005265	\N	"" []	EFO:0005265	"MOLT-3 is a male human malignant T-lymphoblastic cell line." []	208368	\N	\N	EFO	1	EFO	cancer cell line	MOLT-3
EFO:0002888	EFO:0005265	\N	"" []	EFO:0005265	"MOLT-3 is a male human malignant T-lymphoblastic cell line." []	208369	\N	\N	EFO	1	EFO	Homo sapiens cell line	MOLT-3
EFO:0005292	EFO:0005265	\N	"" []	EFO:0005265	"MOLT-3 is a male human malignant T-lymphoblastic cell line." []	208370	\N	\N	EFO	1	EFO	lymphoblastoid cell line	MOLT-3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005265	"MOLT-3 is a male human malignant T-lymphoblastic cell line." []	561523	\N	\N	EFO	2	EFO	cell line	MOLT-3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005265	"MOLT-3 is a male human malignant T-lymphoblastic cell line." []	561524	\N	\N	EFO	2	EFO	cell line	MOLT-3
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005265	"MOLT-3 is a male human malignant T-lymphoblastic cell line." []	561525	\N	\N	EFO	2	EFO	cell line	MOLT-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005265	"MOLT-3 is a male human malignant T-lymphoblastic cell line." []	1143261	\N	\N	EFO	3	EFO	material entity	MOLT-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005265	"MOLT-3 is a male human malignant T-lymphoblastic cell line." []	2025954	\N	\N	EFO	4	EFO	experimental factor	MOLT-3
EFO:0005266	\N	\N	"quantification of selenium in blood" []	EFO:0005266	"quantification of selenium in blood" []	67011	\N	\N	EFO	0	EFO	serum selenium measurement	serum selenium measurement
EFO:0006331	EFO:0005266	\N	"quantification of selenium in a sample" []	EFO:0005266	"quantification of selenium in blood" []	208371	\N	\N	EFO	1	EFO	selenium measurement	serum selenium measurement
EFO:0001444	EFO:0006331	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005266	"quantification of selenium in blood" []	561526	\N	\N	EFO	2	EFO	measurement	serum selenium measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005266	"quantification of selenium in blood" []	1143262	\N	\N	EFO	3	EFO	information entity	serum selenium measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005266	"quantification of selenium in blood" []	2025955	\N	\N	EFO	4	EFO	experimental factor	serum selenium measurement
EFO:0005267	\N	\N	"quantification of copper in blood used in the diagnosis of Wilson's disease (in combination with ceruloplasmin measurement) or copper deficiences. Low levels may indicate Wilson's disease, high levels may indicate liver disease." []	EFO:0005267	"quantification of copper in blood used in the diagnosis of Wilson's disease (in combination with ceruloplasmin measurement) or copper deficiences. Low levels may indicate Wilson's disease, high levels may indicate liver disease." []	67012	\N	\N	EFO	0	EFO	serum copper measurement	serum copper measurement
EFO:0001444	EFO:0005267	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005267	"quantification of copper in blood used in the diagnosis of Wilson's disease (in combination with ceruloplasmin measurement) or copper deficiences. Low levels may indicate Wilson's disease, high levels may indicate liver disease." []	208372	\N	\N	EFO	1	EFO	measurement	serum copper measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005267	"quantification of copper in blood used in the diagnosis of Wilson's disease (in combination with ceruloplasmin measurement) or copper deficiences. Low levels may indicate Wilson's disease, high levels may indicate liver disease." []	561527	\N	\N	EFO	2	EFO	information entity	serum copper measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005267	"quantification of copper in blood used in the diagnosis of Wilson's disease (in combination with ceruloplasmin measurement) or copper deficiences. Low levels may indicate Wilson's disease, high levels may indicate liver disease." []	1143263	\N	\N	EFO	3	EFO	experimental factor	serum copper measurement
EFO:0005268	\N	\N	"quantification of zinc in blood" []	EFO:0005268	"quantification of zinc in blood" []	67013	\N	\N	EFO	0	EFO	serum zinc measurement	serum zinc measurement
EFO:0001444	EFO:0005268	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005268	"quantification of zinc in blood" []	208373	\N	\N	EFO	1	EFO	measurement	serum zinc measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005268	"quantification of zinc in blood" []	561528	\N	\N	EFO	2	EFO	information entity	serum zinc measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005268	"quantification of zinc in blood" []	1143264	\N	\N	EFO	3	EFO	experimental factor	serum zinc measurement
EFO:0005269	\N	\N	"any structural anomly of the heart that is present from birth" []	EFO:0005269	"any structural anomly of the heart that is present from birth" []	67014	\N	\N	EFO	0	EFO	congenital heart malformation	congenital heart malformation
EFO:0000508	EFO:0005269	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0005269	"any structural anomly of the heart that is present from birth" []	208374	\N	\N	EFO	1	EFO	genetic disorder	congenital heart malformation
EFO:0005207	EFO:0005269	\N	"any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" []	EFO:0005269	"any structural anomly of the heart that is present from birth" []	208375	\N	\N	EFO	1	EFO	congenital heart disease	congenital heart malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005269	"any structural anomly of the heart that is present from birth" []	561529	\N	\N	EFO	2	EFO	disease	congenital heart malformation
EFO:0003777	EFO:0005207	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005269	"any structural anomly of the heart that is present from birth" []	561530	\N	\N	EFO	2	EFO	heart disease	congenital heart malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005269	"any structural anomly of the heart that is present from birth" []	3178372	\N	\N	EFO	5	EFO	disposition	congenital heart malformation
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005269	"any structural anomly of the heart that is present from birth" []	1143266	\N	\N	EFO	3	EFO	cardiovascular disease	congenital heart malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005269	"any structural anomly of the heart that is present from birth" []	4066719	\N	\N	EFO	6	EFO	material property	congenital heart malformation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005269	"any structural anomly of the heart that is present from birth" []	2025957	\N	\N	EFO	4	EFO	disease	congenital heart malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005269	"any structural anomly of the heart that is present from birth" []	5059355	\N	\N	EFO	7	EFO	experimental factor	congenital heart malformation
EFO:0005271	\N	\N	"duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab" []	EFO:0005271	"duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab" []	67015	\N	\N	EFO	0	EFO	sleep duration	sleep duration
EFO:0004870	EFO:0005271	\N	"Is a quantification of some sleep parameter." []	EFO:0005271	"duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab" []	208376	\N	\N	EFO	1	EFO	sleep measurement	sleep duration
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005271	"duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab" []	561531	\N	\N	EFO	2	EFO	measurement	sleep duration
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005271	"duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab" []	1143267	\N	\N	EFO	3	EFO	information entity	sleep duration
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005271	"duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab" []	2025958	\N	\N	EFO	4	EFO	experimental factor	sleep duration
EFO:0005272	\N	\N	"quantification of some aspect of sleep quality, such as number of awakenings during a sleep interval or time taken to get to sleep. Sleep quality can be evaluated either through self-reporting, observation in a sleep lab or using a sleep monitoring device" []	EFO:0005272	"quantification of some aspect of sleep quality, such as number of awakenings during a sleep interval or time taken to get to sleep. Sleep quality can be evaluated either through self-reporting, observation in a sleep lab or using a sleep monitoring device" []	67016	\N	\N	EFO	0	EFO	sleep quality	sleep quality
EFO:0004870	EFO:0005272	\N	"Is a quantification of some sleep parameter." []	EFO:0005272	"quantification of some aspect of sleep quality, such as number of awakenings during a sleep interval or time taken to get to sleep. Sleep quality can be evaluated either through self-reporting, observation in a sleep lab or using a sleep monitoring device" []	208377	\N	\N	EFO	1	EFO	sleep measurement	sleep quality
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005272	"quantification of some aspect of sleep quality, such as number of awakenings during a sleep interval or time taken to get to sleep. Sleep quality can be evaluated either through self-reporting, observation in a sleep lab or using a sleep monitoring device" []	561532	\N	\N	EFO	2	EFO	measurement	sleep quality
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005272	"quantification of some aspect of sleep quality, such as number of awakenings during a sleep interval or time taken to get to sleep. Sleep quality can be evaluated either through self-reporting, observation in a sleep lab or using a sleep monitoring device" []	1143268	\N	\N	EFO	3	EFO	information entity	sleep quality
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005272	"quantification of some aspect of sleep quality, such as number of awakenings during a sleep interval or time taken to get to sleep. Sleep quality can be evaluated either through self-reporting, observation in a sleep lab or using a sleep monitoring device" []	2025959	\N	\N	EFO	4	EFO	experimental factor	sleep quality
EFO:0005273	\N	\N	"self-reported assessment of how difficult an individual is to wake" []	EFO:0005273	"self-reported assessment of how difficult an individual is to wake" []	67017	\N	\N	EFO	0	EFO	sleep depth	sleep depth
EFO:0004870	EFO:0005273	\N	"Is a quantification of some sleep parameter." []	EFO:0005273	"self-reported assessment of how difficult an individual is to wake" []	208378	\N	\N	EFO	1	EFO	sleep measurement	sleep depth
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005273	"self-reported assessment of how difficult an individual is to wake" []	561533	\N	\N	EFO	2	EFO	measurement	sleep depth
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005273	"self-reported assessment of how difficult an individual is to wake" []	1143269	\N	\N	EFO	3	EFO	information entity	sleep depth
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005273	"self-reported assessment of how difficult an individual is to wake" []	2025960	\N	\N	EFO	4	EFO	experimental factor	sleep depth
EFO:0005274	\N	\N	"measurement of the time at which sleep begins" []	EFO:0005274	"measurement of the time at which sleep begins" []	67018	\N	\N	EFO	0	EFO	sleep time	sleep time
EFO:0004870	EFO:0005274	\N	"Is a quantification of some sleep parameter." []	EFO:0005274	"measurement of the time at which sleep begins" []	208379	\N	\N	EFO	1	EFO	sleep measurement	sleep time
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005274	"measurement of the time at which sleep begins" []	561534	\N	\N	EFO	2	EFO	measurement	sleep time
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005274	"measurement of the time at which sleep begins" []	1143270	\N	\N	EFO	3	EFO	information entity	sleep time
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005274	"measurement of the time at which sleep begins" []	2025961	\N	\N	EFO	4	EFO	experimental factor	sleep time
EFO:0005275	\N	\N	"the quantification of dihydroxy docosatrienoic acid, a metabolite significantly associated with increased risk of heart failure" []	EFO:0005275	"the quantification of dihydroxy docosatrienoic acid, a metabolite significantly associated with increased risk of heart failure" []	67019	\N	\N	EFO	0	EFO	dihydroxy docosatrienoic acid measurement	dihydroxy docosatrienoic acid measurement
EFO:0004725	EFO:0005275	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0005275	"the quantification of dihydroxy docosatrienoic acid, a metabolite significantly associated with increased risk of heart failure" []	208380	\N	\N	EFO	1	EFO	metabolite measurement	dihydroxy docosatrienoic acid measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005275	"the quantification of dihydroxy docosatrienoic acid, a metabolite significantly associated with increased risk of heart failure" []	561535	\N	\N	EFO	2	EFO	measurement	dihydroxy docosatrienoic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005275	"the quantification of dihydroxy docosatrienoic acid, a metabolite significantly associated with increased risk of heart failure" []	1143271	\N	\N	EFO	3	EFO	information entity	dihydroxy docosatrienoic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005275	"the quantification of dihydroxy docosatrienoic acid, a metabolite significantly associated with increased risk of heart failure" []	2025962	\N	\N	EFO	4	EFO	experimental factor	dihydroxy docosatrienoic acid measurement
EFO:0005276	\N	\N	"the quantification of hydroxy-leucine, a metabolite significantly associated with increased risk of heart failure" []	EFO:0005276	"the quantification of hydroxy-leucine, a metabolite significantly associated with increased risk of heart failure" []	67020	\N	\N	EFO	0	EFO	hydroxy-leucine measurement	hydroxy-leucine measurement
EFO:0004725	EFO:0005276	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0005276	"the quantification of hydroxy-leucine, a metabolite significantly associated with increased risk of heart failure" []	208381	\N	\N	EFO	1	EFO	metabolite measurement	hydroxy-leucine measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005276	"the quantification of hydroxy-leucine, a metabolite significantly associated with increased risk of heart failure" []	561536	\N	\N	EFO	2	EFO	measurement	hydroxy-leucine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005276	"the quantification of hydroxy-leucine, a metabolite significantly associated with increased risk of heart failure" []	1143272	\N	\N	EFO	3	EFO	information entity	hydroxy-leucine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005276	"the quantification of hydroxy-leucine, a metabolite significantly associated with increased risk of heart failure" []	2025963	\N	\N	EFO	4	EFO	experimental factor	hydroxy-leucine measurement
EFO:0005278	\N	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005278	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	67021	\N	\N	EFO	0	EFO	cardiovascular disease biomarker measurement	cardiovascular disease biomarker measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005278	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	208382	\N	\N	EFO	1	EFO	cardiovascular measurement	cardiovascular disease biomarker measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005278	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	561537	\N	\N	EFO	2	EFO	measurement	cardiovascular disease biomarker measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005278	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	1143273	\N	\N	EFO	3	EFO	information entity	cardiovascular disease biomarker measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005278	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	2025964	\N	\N	EFO	4	EFO	experimental factor	cardiovascular disease biomarker measurement
EFO:0005279	\N	\N	"A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia." []	EFO:0005279	"A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia." []	67022	\N	\N	EFO	0	EFO	temporomandibular joint disorder	temporomandibular joint disorder
EFO:0000524	EFO:0005279	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0005279	"A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia." []	208383	\N	\N	EFO	1	EFO	head disease	temporomandibular joint disorder
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005279	"A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia." []	561538	\N	\N	EFO	2	EFO	disease	temporomandibular joint disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005279	"A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia." []	1143274	\N	\N	EFO	3	EFO	disposition	temporomandibular joint disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005279	"A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia." []	2025965	\N	\N	EFO	4	EFO	material property	temporomandibular joint disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005279	"A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia." []	3178373	\N	\N	EFO	5	EFO	experimental factor	temporomandibular joint disorder
EFO:0005280	\N	\N	"amount of time, usually recorded in minutes, between going to bed and falling asleep" []	EFO:0005280	"amount of time, usually recorded in minutes, between going to bed and falling asleep" []	67023	\N	\N	EFO	0	EFO	sleep latency	sleep latency
EFO:0004870	EFO:0005280	\N	"Is a quantification of some sleep parameter." []	EFO:0005280	"amount of time, usually recorded in minutes, between going to bed and falling asleep" []	208384	\N	\N	EFO	1	EFO	sleep measurement	sleep latency
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005280	"amount of time, usually recorded in minutes, between going to bed and falling asleep" []	561539	\N	\N	EFO	2	EFO	measurement	sleep latency
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005280	"amount of time, usually recorded in minutes, between going to bed and falling asleep" []	1143275	\N	\N	EFO	3	EFO	information entity	sleep latency
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005280	"amount of time, usually recorded in minutes, between going to bed and falling asleep" []	2025966	\N	\N	EFO	4	EFO	experimental factor	sleep latency
EFO:0005282	\N	\N	"Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." []	EFO:0005282	"Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." []	67024	\N	\N	EFO	0	EFO	HS-5	HS-5
EFO:0002888	EFO:0005282	\N	"" []	EFO:0005282	"Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." []	208385	\N	\N	EFO	1	EFO	Homo sapiens cell line	HS-5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005282	"Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." []	561540	\N	\N	EFO	2	EFO	cell line	HS-5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005282	"Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." []	1143276	\N	\N	EFO	3	EFO	material entity	HS-5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005282	"Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." []	2025967	\N	\N	EFO	4	EFO	experimental factor	HS-5
EFO:0005283	\N	\N	"Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." []	EFO:0005283	"Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." []	67025	\N	\N	EFO	0	EFO	HS-27A	HS-27A
EFO:0002888	EFO:0005283	\N	"" []	EFO:0005283	"Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." []	208386	\N	\N	EFO	1	EFO	Homo sapiens cell line	HS-27A
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005283	"Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." []	561541	\N	\N	EFO	2	EFO	cell line	HS-27A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005283	"Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." []	1143277	\N	\N	EFO	3	EFO	material entity	HS-27A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005283	"Established from human bone marrow stromal cells transformed by HPV-16 E6/E7." []	2025968	\N	\N	EFO	4	EFO	experimental factor	HS-27A
EFO:0005284	\N	\N	"Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]" []	EFO:0005284	"Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]" []	67026	\N	\N	EFO	0	EFO	L-1210	L-1210
EFO:0002887	EFO:0005284	\N	"Cell lines derived from mice." []	EFO:0005284	"Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]" []	208387	\N	\N	EFO	1	EFO	mouse cell line	L-1210
EFO:0002937	EFO:0005284	\N	"" []	EFO:0005284	"Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]" []	208388	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	L-1210
EFO:0005292	EFO:0005284	\N	"" []	EFO:0005284	"Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]" []	208389	\N	\N	EFO	1	EFO	lymphoblastoid cell line	L-1210
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005284	"Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]" []	561542	\N	\N	EFO	2	EFO	cell line	L-1210
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005284	"Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]" []	561543	\N	\N	EFO	2	EFO	cancer cell line	L-1210
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005284	"Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]" []	561544	\N	\N	EFO	2	EFO	cell line	L-1210
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005284	"Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]" []	2025970	\N	\N	EFO	4	EFO	material entity	L-1210
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005284	"Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]" []	1143279	\N	\N	EFO	3	EFO	cell line	L-1210
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005284	"Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702]" []	2999622	\N	\N	EFO	5	EFO	experimental factor	L-1210
EFO:0005285	\N	\N	"Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]" []	EFO:0005285	"Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]" []	67027	\N	\N	EFO	0	EFO	A20	A20
EFO:0001639	EFO:0005285	\N	"" []	EFO:0005285	"Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]" []	208390	\N	\N	EFO	1	EFO	cancer cell line	A20
EFO:0001640	EFO:0005285	\N	"" []	EFO:0005285	"Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]" []	208391	\N	\N	EFO	1	EFO	B cell derived cell line	A20
EFO:0002887	EFO:0005285	\N	"Cell lines derived from mice." []	EFO:0005285	"Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]" []	208392	\N	\N	EFO	1	EFO	mouse cell line	A20
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005285	"Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]" []	561545	\N	\N	EFO	2	EFO	cell line	A20
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005285	"Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]" []	561546	\N	\N	EFO	2	EFO	cell line	A20
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005285	"Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]" []	561547	\N	\N	EFO	2	EFO	cell line	A20
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005285	"Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]" []	1143280	\N	\N	EFO	3	EFO	material entity	A20
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005285	"Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]" []	2025971	\N	\N	EFO	4	EFO	experimental factor	A20
EFO:0005286	\N	\N	"Albino inbred mus musculus strain." []	EFO:0005286	"Albino inbred mus musculus strain." []	67028	\N	\N	EFO	0	EFO	BALB/cAnN	BALB/cAnN
NCBITaxon:10090	\N	\N	"" []	EFO:0005286	"Albino inbred mus musculus strain." []	194713	\N	\N	EFO	0	EFO	Mus musculus	BALB/cAnN
EFO:0005287	\N	\N	"A malignant tumor in the reticulum connective tissue." []	EFO:0005287	"A malignant tumor in the reticulum connective tissue." []	67029	\N	\N	EFO	0	EFO	reticulum cell sarcoma	reticulum cell sarcoma
EFO:0000691	EFO:0005287	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0005287	"A malignant tumor in the reticulum connective tissue." []	208393	\N	\N	EFO	1	EFO	sarcoma	reticulum cell sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005287	"A malignant tumor in the reticulum connective tissue." []	561548	\N	\N	EFO	2	EFO	cancer	reticulum cell sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005287	"A malignant tumor in the reticulum connective tissue." []	1143281	\N	\N	EFO	3	EFO	neoplasm	reticulum cell sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005287	"A malignant tumor in the reticulum connective tissue." []	2025972	\N	\N	EFO	4	EFO	disease	reticulum cell sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005287	"A malignant tumor in the reticulum connective tissue." []	3178374	\N	\N	EFO	5	EFO	disposition	reticulum cell sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005287	"A malignant tumor in the reticulum connective tissue." []	4388194	\N	\N	EFO	6	EFO	material property	reticulum cell sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005287	"A malignant tumor in the reticulum connective tissue." []	5408795	\N	\N	EFO	7	EFO	experimental factor	reticulum cell sarcoma
EFO:0005288	\N	\N	"Type of epithelial lung cancer arising from glandular origin." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	67030	\N	\N	EFO	0	EFO	non-small cell lung adenocarcinoma	non-small cell lung adenocarcinoma
EFO:0000228	EFO:0005288	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	208394	\N	\N	EFO	1	EFO	adenocarcinoma	non-small cell lung adenocarcinoma
EFO:0003060	EFO:0005288	\N	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	208395	\N	\N	EFO	1	EFO	non-small cell lung carcinoma	non-small cell lung adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	561549	\N	\N	EFO	2	EFO	carcinoma	non-small cell lung adenocarcinoma
EFO:0001071	EFO:0003060	\N	"Tumors or cancer of the LUNG." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	561550	\N	\N	EFO	2	EFO	lung carcinoma	non-small cell lung adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	2025975	\N	\N	EFO	4	EFO	cancer	non-small cell lung adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	2025976	\N	\N	EFO	4	EFO	epithelial neoplasm	non-small cell lung adenocarcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	1143284	\N	\N	EFO	3	EFO	carcinoma	non-small cell lung adenocarcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	1143285	\N	\N	EFO	3	EFO	lung disease	non-small cell lung adenocarcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	1143286	\N	\N	EFO	3	EFO	respiratory system neoplasm	non-small cell lung adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	2999623	\N	\N	EFO	5	EFO	neoplasm	non-small cell lung adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	2999624	\N	\N	EFO	5	EFO	neoplasm	non-small cell lung adenocarcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	2025977	\N	\N	EFO	4	EFO	respiratory system disease	non-small cell lung adenocarcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	2025978	\N	\N	EFO	4	EFO	neoplasm	non-small cell lung adenocarcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	2025979	\N	\N	EFO	4	EFO	respiratory system disease	non-small cell lung adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	4132675	\N	\N	EFO	6	EFO	disease	non-small cell lung adenocarcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	3178376	\N	\N	EFO	5	EFO	disease	non-small cell lung adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	5180992	\N	\N	EFO	7	EFO	disposition	non-small cell lung adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	5996604	\N	\N	EFO	8	EFO	material property	non-small cell lung adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005288	"Type of epithelial lung cancer arising from glandular origin." []	6550378	\N	\N	EFO	9	EFO	experimental factor	non-small cell lung adenocarcinoma
EFO:0005289	\N	\N	"The mural granulosa cells form during antral folliculogenesis, process in which a single antral cavity is formed, separating two functionally distinct granulosa cell populations. The mural granulosa cells line the wall of the follicle and are critical for steroidogenesis and ovulation." []	EFO:0005289	"The mural granulosa cells form during antral folliculogenesis, process in which a single antral cavity is formed, separating two functionally distinct granulosa cell populations. The mural granulosa cells line the wall of the follicle and are critical for steroidogenesis and ovulation." []	67031	\N	\N	EFO	0	EFO	mural granulosa cell	mural granulosa cell
CL:0000501	EFO:0005289	\N	"A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." []	EFO:0005289	"The mural granulosa cells form during antral folliculogenesis, process in which a single antral cavity is formed, separating two functionally distinct granulosa cell populations. The mural granulosa cells line the wall of the follicle and are critical for steroidogenesis and ovulation." []	208396	\N	\N	EFO	1	EFO	granulosa cell	mural granulosa cell
EFO:0002962	CL:0000501	\N	"" []	EFO:0005289	"The mural granulosa cells form during antral folliculogenesis, process in which a single antral cavity is formed, separating two functionally distinct granulosa cell populations. The mural granulosa cells line the wall of the follicle and are critical for steroidogenesis and ovulation." []	561551	\N	\N	EFO	2	EFO	animal reproductive system cell	mural granulosa cell
EFO:0002955	EFO:0002962	\N	"" []	EFO:0005289	"The mural granulosa cells form during antral folliculogenesis, process in which a single antral cavity is formed, separating two functionally distinct granulosa cell populations. The mural granulosa cells line the wall of the follicle and are critical for steroidogenesis and ovulation." []	1143287	\N	\N	EFO	3	EFO	reproductive system cell	mural granulosa cell
EFO:0000324	EFO:0002955	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0005289	"The mural granulosa cells form during antral folliculogenesis, process in which a single antral cavity is formed, separating two functionally distinct granulosa cell populations. The mural granulosa cells line the wall of the follicle and are critical for steroidogenesis and ovulation." []	2025980	\N	\N	EFO	4	EFO	cell type	mural granulosa cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005289	"The mural granulosa cells form during antral folliculogenesis, process in which a single antral cavity is formed, separating two functionally distinct granulosa cell populations. The mural granulosa cells line the wall of the follicle and are critical for steroidogenesis and ovulation." []	3178377	\N	\N	EFO	5	EFO	material entity	mural granulosa cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005289	"The mural granulosa cells form during antral folliculogenesis, process in which a single antral cavity is formed, separating two functionally distinct granulosa cell populations. The mural granulosa cells line the wall of the follicle and are critical for steroidogenesis and ovulation." []	4388196	\N	\N	EFO	6	EFO	experimental factor	mural granulosa cell
EFO:0005290	\N	\N	"" []	EFO:0005290	"" []	67032	\N	\N	EFO	0	EFO	Brown Norway	Brown Norway
NCBITaxon:10116	\N	\N	"" []	EFO:0005290	"" []	194714	\N	\N	EFO	0	EFO	Rattus norvegicus	Brown Norway
EFO:0005291	\N	\N	"" []	EFO:0005291	"" []	67033	\N	\N	EFO	0	EFO	Dark agouti	Dark agouti
NCBITaxon:10116	\N	\N	"" []	EFO:0005291	"" []	194715	\N	\N	EFO	0	EFO	Rattus norvegicus	Dark agouti
EFO:0005292	\N	\N	"" []	EFO:0005292	"" []	67034	\N	\N	EFO	0	EFO	lymphoblastoid cell line	lymphoblastoid cell line
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005292	"" []	208397	\N	\N	EFO	1	EFO	cell line	lymphoblastoid cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005292	"" []	561552	\N	\N	EFO	2	EFO	material entity	lymphoblastoid cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005292	"" []	1143288	\N	\N	EFO	3	EFO	experimental factor	lymphoblastoid cell line
EFO:0005293	\N	\N	"" []	EFO:0005293	"" []	67035	\N	\N	EFO	0	EFO	B-lymphoblast	B-lymphoblast
EFO:0000572	EFO:0005293	\N	"Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes." []	EFO:0005293	"" []	208398	\N	\N	EFO	1	EFO	lymphoblast	B-lymphoblast
CL:0000988	EFO:0000572	\N	"A cell of a hematopoietic lineage." []	EFO:0005293	"" []	561553	\N	\N	EFO	2	EFO	hematopoietic cell	B-lymphoblast
EFO:0000324	CL:0000988	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0005293	"" []	1143289	\N	\N	EFO	3	EFO	cell type	B-lymphoblast
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005293	"" []	2025981	\N	\N	EFO	4	EFO	material entity	B-lymphoblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005293	"" []	3178378	\N	\N	EFO	5	EFO	experimental factor	B-lymphoblast
EFO:0005294	\N	\N	"" []	EFO:0005294	"" []	67036	\N	\N	EFO	0	EFO	chronic myelogenous leukemia cell line	chronic myelogenous leukemia cell line
EFO:0002937	EFO:0005294	\N	"" []	EFO:0005294	"" []	208399	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	chronic myelogenous leukemia cell line
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005294	"" []	561554	\N	\N	EFO	2	EFO	cancer cell line	chronic myelogenous leukemia cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005294	"" []	1143290	\N	\N	EFO	3	EFO	cell line	chronic myelogenous leukemia cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005294	"" []	2025982	\N	\N	EFO	4	EFO	material entity	chronic myelogenous leukemia cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005294	"" []	3178379	\N	\N	EFO	5	EFO	experimental factor	chronic myelogenous leukemia cell line
EFO:0005295	\N	\N	"A type of `migraine` in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." []	EFO:0005295	"A type of `migraine` in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." []	67037	\N	\N	EFO	0	EFO	migraine with aura	migraine with aura
EFO:0003821	EFO:0005295	\N	"A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" []	EFO:0005295	"A type of `migraine` in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." []	208400	\N	\N	EFO	1	EFO	migraine disorder	migraine with aura
EFO:0005774	EFO:0003821	\N	"A disease affecting the brain or part of the brain." []	EFO:0005295	"A type of `migraine` in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." []	561555	\N	\N	EFO	2	EFO	brain disease	migraine with aura
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005295	"A type of `migraine` in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." []	1143291	\N	\N	EFO	3	EFO	nervous system disease	migraine with aura
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005295	"A type of `migraine` in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." []	2025983	\N	\N	EFO	4	EFO	disease	migraine with aura
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005295	"A type of `migraine` in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." []	3178380	\N	\N	EFO	5	EFO	disposition	migraine with aura
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005295	"A type of `migraine` in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." []	4388197	\N	\N	EFO	6	EFO	material property	migraine with aura
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005295	"A type of `migraine` in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." []	5408797	\N	\N	EFO	7	EFO	experimental factor	migraine with aura
EFO:0005296	\N	\N	"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis." []	EFO:0005296	"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis." []	67038	\N	\N	EFO	0	EFO	migraine without aura	migraine without aura
EFO:0003821	EFO:0005296	\N	"A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" []	EFO:0005296	"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis." []	208401	\N	\N	EFO	1	EFO	migraine disorder	migraine without aura
EFO:0005774	EFO:0003821	\N	"A disease affecting the brain or part of the brain." []	EFO:0005296	"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis." []	561556	\N	\N	EFO	2	EFO	brain disease	migraine without aura
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005296	"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis." []	1143292	\N	\N	EFO	3	EFO	nervous system disease	migraine without aura
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005296	"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis." []	2025984	\N	\N	EFO	4	EFO	disease	migraine without aura
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005296	"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis." []	3178381	\N	\N	EFO	5	EFO	disposition	migraine without aura
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005296	"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis." []	4388198	\N	\N	EFO	6	EFO	material property	migraine without aura
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005296	"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis." []	5408798	\N	\N	EFO	7	EFO	experimental factor	migraine without aura
EFO:0005297	\N	\N	"A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis." []	EFO:0005297	"A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis." []	67039	\N	\N	EFO	0	EFO	Wegener's granulomatosis	Wegener's granulomatosis
EFO:0005140	EFO:0005297	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005297	"A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis." []	208402	\N	\N	EFO	1	EFO	autoimmune disease	Wegener's granulomatosis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005297	"A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis." []	561557	\N	\N	EFO	2	EFO	immune system disease	Wegener's granulomatosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005297	"A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis." []	1143293	\N	\N	EFO	3	EFO	disease	Wegener's granulomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005297	"A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis." []	2025985	\N	\N	EFO	4	EFO	disposition	Wegener's granulomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005297	"A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis." []	3178382	\N	\N	EFO	5	EFO	material property	Wegener's granulomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005297	"A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis." []	4388199	\N	\N	EFO	6	EFO	experimental factor	Wegener's granulomatosis
EFO:0005298	\N	\N	"quantification of allergic sensitization status, for example through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	EFO:0005298	"quantification of allergic sensitization status, for example through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	67040	\N	\N	EFO	0	EFO	allergic sensitization measurement	allergic sensitization measurement
EFO:0007008	EFO:0005298	\N	"quantification of some aspect of an allergy, for example whether an allergy is present or its severity. Allergies are commonly quantified through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	EFO:0005298	"quantification of allergic sensitization status, for example through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	208403	\N	\N	EFO	1	EFO	allergy measurement	allergic sensitization measurement
EFO:0001444	EFO:0007008	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005298	"quantification of allergic sensitization status, for example through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	561558	\N	\N	EFO	2	EFO	measurement	allergic sensitization measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005298	"quantification of allergic sensitization status, for example through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	1143294	\N	\N	EFO	3	EFO	information entity	allergic sensitization measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005298	"quantification of allergic sensitization status, for example through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	2025986	\N	\N	EFO	4	EFO	experimental factor	allergic sensitization measurement
EFO:0005299	\N	\N	"non-word reading is the complex cognitive process of decoding symbols in order to derive that they do not form meaningful words" []	EFO:0005299	"non-word reading is the complex cognitive process of decoding symbols in order to derive that they do not form meaningful words" []	67041	\N	\N	EFO	0	EFO	non-word reading	non-word reading
EFO:0005229	EFO:0005299	\N	"reading is the complex cognitive process of decoding symbols in order to construct or derive meaning" []	EFO:0005299	"non-word reading is the complex cognitive process of decoding symbols in order to derive that they do not form meaningful words" []	208404	\N	\N	EFO	1	EFO	reading	non-word reading
EFO:0003925	EFO:0005229	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0005299	"non-word reading is the complex cognitive process of decoding symbols in order to derive that they do not form meaningful words" []	561559	\N	\N	EFO	2	EFO	cognition	non-word reading
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0005299	"non-word reading is the complex cognitive process of decoding symbols in order to derive that they do not form meaningful words" []	1143295	\N	\N	EFO	3	EFO	mental process	non-word reading
EFO:0005300	\N	\N	"word reading is the complex cognitive process of decoding symbols in order to construct or derive meaningful words" []	EFO:0005300	"word reading is the complex cognitive process of decoding symbols in order to construct or derive meaningful words" []	67042	\N	\N	EFO	0	EFO	word reading	word reading
EFO:0005229	EFO:0005300	\N	"reading is the complex cognitive process of decoding symbols in order to construct or derive meaning" []	EFO:0005300	"word reading is the complex cognitive process of decoding symbols in order to construct or derive meaningful words" []	208405	\N	\N	EFO	1	EFO	reading	word reading
EFO:0003925	EFO:0005229	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0005300	"word reading is the complex cognitive process of decoding symbols in order to construct or derive meaningful words" []	561560	\N	\N	EFO	2	EFO	cognition	word reading
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0005300	"word reading is the complex cognitive process of decoding symbols in order to construct or derive meaningful words" []	1143296	\N	\N	EFO	3	EFO	mental process	word reading
EFO:0005301	\N	\N	"reading and spelling ability refers to the complex cognitive processes involved in assembling and decoding symbols in order to construct or derive words" []	EFO:0005301	"reading and spelling ability refers to the complex cognitive processes involved in assembling and decoding symbols in order to construct or derive words" []	67043	\N	\N	EFO	0	EFO	reading and spelling ability	reading and spelling ability
EFO:0005229	EFO:0005301	\N	"reading is the complex cognitive process of decoding symbols in order to construct or derive meaning" []	EFO:0005301	"reading and spelling ability refers to the complex cognitive processes involved in assembling and decoding symbols in order to construct or derive words" []	208406	\N	\N	EFO	1	EFO	reading	reading and spelling ability
EFO:0003925	EFO:0005229	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0005301	"reading and spelling ability refers to the complex cognitive processes involved in assembling and decoding symbols in order to construct or derive words" []	561561	\N	\N	EFO	2	EFO	cognition	reading and spelling ability
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0005301	"reading and spelling ability refers to the complex cognitive processes involved in assembling and decoding symbols in order to construct or derive words" []	1143297	\N	\N	EFO	3	EFO	mental process	reading and spelling ability
EFO:0005302	\N	\N	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	67044	\N	\N	EFO	0	EFO	ChIP-exo	ChIP-exo
EFO:0001456	EFO:0005302	\N	"An assay with input DNA" []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	208407	\N	\N	EFO	1	EFO	DNA assay	ChIP-exo
EFO:0005032	EFO:0005302	\N	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	208408	\N	\N	EFO	1	EFO	IP-seq	ChIP-exo
EFO:0002772	EFO:0001456	\N	"" []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	561562	\N	\N	EFO	2	EFO	assay by molecule	ChIP-exo
EFO:0002697	EFO:0005032	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	561563	\N	\N	EFO	2	EFO	assay by high throughput sequencer	ChIP-exo
EFO:0004120	EFO:0005032	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	561564	\N	\N	EFO	2	EFO	ArrayExpress experiment type	ChIP-exo
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	1143298	\N	\N	EFO	3	EFO	assay	ChIP-exo
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	1143299	\N	\N	EFO	3	EFO	assay by sequencer	ChIP-exo
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	1143300	\N	\N	EFO	3	EFO	experimental process	ChIP-exo
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	4388200	\N	\N	EFO	6	EFO	experimental process	ChIP-exo
EFO:0002773	EFO:0003740	\N	"" []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	2025988	\N	\N	EFO	4	EFO	assay by instrument	ChIP-exo
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	5059356	\N	\N	EFO	7	EFO	planned process	ChIP-exo
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	3178384	\N	\N	EFO	5	EFO	assay	ChIP-exo
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	5817369	\N	\N	EFO	8	EFO	process	ChIP-exo
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005302	"ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair." []	6409747	\N	\N	EFO	9	EFO	experimental factor	ChIP-exo
EFO:0005303	\N	\N	"Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene." []	EFO:0005303	"Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene." []	67045	\N	\N	EFO	0	EFO	sudden infant death syndrome	sudden infant death syndrome
EFO:0000408	EFO:0005303	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005303	"Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene." []	208409	\N	\N	EFO	1	EFO	disease	sudden infant death syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005303	"Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene." []	561565	\N	\N	EFO	2	EFO	disposition	sudden infant death syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005303	"Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene." []	1143301	\N	\N	EFO	3	EFO	material property	sudden infant death syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005303	"Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene." []	2025990	\N	\N	EFO	4	EFO	experimental factor	sudden infant death syndrome
EFO:0005304	\N	\N	"atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted" []	EFO:0005304	"atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted" []	67046	\N	\N	EFO	0	EFO	atrial conduction disease	atrial conduction disease
EFO:0005137	EFO:0005304	\N	"A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" []	EFO:0005304	"atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted" []	208410	\N	\N	EFO	1	EFO	conduction system disorder	atrial conduction disease
EFO:0003777	EFO:0005137	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005304	"atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted" []	561566	\N	\N	EFO	2	EFO	heart disease	atrial conduction disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005304	"atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted" []	1143302	\N	\N	EFO	3	EFO	cardiovascular disease	atrial conduction disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005304	"atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted" []	2025991	\N	\N	EFO	4	EFO	disease	atrial conduction disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005304	"atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted" []	3178386	\N	\N	EFO	5	EFO	disposition	atrial conduction disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005304	"atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted" []	4388202	\N	\N	EFO	6	EFO	material property	atrial conduction disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005304	"atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted" []	5408799	\N	\N	EFO	7	EFO	experimental factor	atrial conduction disease
EFO:0005305	\N	\N	"atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted" []	EFO:0005305	"atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted" []	67047	\N	\N	EFO	0	EFO	atrioventricular node disease	atrioventricular node disease
EFO:0005137	EFO:0005305	\N	"A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block" []	EFO:0005305	"atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted" []	208411	\N	\N	EFO	1	EFO	conduction system disorder	atrioventricular node disease
EFO:0003777	EFO:0005137	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005305	"atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted" []	561567	\N	\N	EFO	2	EFO	heart disease	atrioventricular node disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005305	"atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted" []	1143303	\N	\N	EFO	3	EFO	cardiovascular disease	atrioventricular node disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005305	"atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted" []	2025992	\N	\N	EFO	4	EFO	disease	atrioventricular node disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005305	"atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted" []	3178387	\N	\N	EFO	5	EFO	disposition	atrioventricular node disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005305	"atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted" []	4388203	\N	\N	EFO	6	EFO	material property	atrioventricular node disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005305	"atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted" []	5408800	\N	\N	EFO	7	EFO	experimental factor	atrioventricular node disease
EFO:0005306	\N	\N	"A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" []	EFO:0005306	"A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" []	67048	\N	\N	EFO	0	EFO	ventricular tachycardia	ventricular tachycardia
EFO:0004269	EFO:0005306	\N	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	EFO:0005306	"A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" []	208412	\N	\N	EFO	1	EFO	cardiac arrhythmia	ventricular tachycardia
EFO:0003777	EFO:0004269	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005306	"A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" []	561568	\N	\N	EFO	2	EFO	heart disease	ventricular tachycardia
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005306	"A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" []	1143304	\N	\N	EFO	3	EFO	cardiovascular disease	ventricular tachycardia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005306	"A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" []	2025993	\N	\N	EFO	4	EFO	disease	ventricular tachycardia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005306	"A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" []	3178388	\N	\N	EFO	5	EFO	disposition	ventricular tachycardia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005306	"A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" []	4388204	\N	\N	EFO	6	EFO	material property	ventricular tachycardia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005306	"A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" []	5408801	\N	\N	EFO	7	EFO	experimental factor	ventricular tachycardia
EFO:0005307	\N	\N	"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." []	EFO:0005307	"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." []	67049	\N	\N	EFO	0	EFO	torsades de pointes	torsades de pointes
EFO:0005306	EFO:0005307	\N	"A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" []	EFO:0005307	"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." []	208413	\N	\N	EFO	1	EFO	ventricular tachycardia	torsades de pointes
EFO:0004269	EFO:0005306	\N	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	EFO:0005307	"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." []	561569	\N	\N	EFO	2	EFO	cardiac arrhythmia	torsades de pointes
EFO:0003777	EFO:0004269	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005307	"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." []	1143305	\N	\N	EFO	3	EFO	heart disease	torsades de pointes
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005307	"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." []	2025994	\N	\N	EFO	4	EFO	cardiovascular disease	torsades de pointes
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005307	"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." []	3178389	\N	\N	EFO	5	EFO	disease	torsades de pointes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005307	"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." []	4388205	\N	\N	EFO	6	EFO	disposition	torsades de pointes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005307	"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." []	5408802	\N	\N	EFO	7	EFO	material property	torsades de pointes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005307	"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." []	6147501	\N	\N	EFO	8	EFO	experimental factor	torsades de pointes
EFO:0005308	\N	\N	"A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" []	EFO:0005308	"A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" []	67050	\N	\N	EFO	0	EFO	atrial tachycardia	atrial tachycardia
EFO:0004269	EFO:0005308	\N	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	EFO:0005308	"A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" []	208414	\N	\N	EFO	1	EFO	cardiac arrhythmia	atrial tachycardia
EFO:0003777	EFO:0004269	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005308	"A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" []	561570	\N	\N	EFO	2	EFO	heart disease	atrial tachycardia
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005308	"A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" []	1143306	\N	\N	EFO	3	EFO	cardiovascular disease	atrial tachycardia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005308	"A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" []	2025995	\N	\N	EFO	4	EFO	disease	atrial tachycardia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005308	"A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" []	3178390	\N	\N	EFO	5	EFO	disposition	atrial tachycardia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005308	"A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" []	4388206	\N	\N	EFO	6	EFO	material property	atrial tachycardia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005308	"A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" []	5408803	\N	\N	EFO	7	EFO	experimental factor	atrial tachycardia
EFO:0005309	\N	\N	"Ta stage is a bladder carcinoma stage characterised by non-invasive papillary carcinoma, sometimes called superficial bladder carcinoma. These are early stage cancers that are found only in the lining of the innermost layer of bladder and are considered one of the more treatable forms of bladder cancer." []	EFO:0005309	"Ta stage is a bladder carcinoma stage characterised by non-invasive papillary carcinoma, sometimes called superficial bladder carcinoma. These are early stage cancers that are found only in the lining of the innermost layer of bladder and are considered one of the more treatable forms of bladder cancer." []	67051	\N	\N	EFO	0	EFO	Ta stage	Ta stage
EFO:0004928	EFO:0005309	\N	"primary tumor staging" []	EFO:0005309	"Ta stage is a bladder carcinoma stage characterised by non-invasive papillary carcinoma, sometimes called superficial bladder carcinoma. These are early stage cancers that are found only in the lining of the innermost layer of bladder and are considered one of the more treatable forms of bladder cancer." []	208415	\N	\N	EFO	1	EFO	T stage	Ta stage
EFO:0004925	EFO:0004928	\N	"Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another)." []	EFO:0005309	"Ta stage is a bladder carcinoma stage characterised by non-invasive papillary carcinoma, sometimes called superficial bladder carcinoma. These are early stage cancers that are found only in the lining of the innermost layer of bladder and are considered one of the more treatable forms of bladder cancer." []	561571	\N	\N	EFO	2	EFO	tumor stage	Ta stage
EFO:0000410	EFO:0004925	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0005309	"Ta stage is a bladder carcinoma stage characterised by non-invasive papillary carcinoma, sometimes called superficial bladder carcinoma. These are early stage cancers that are found only in the lining of the innermost layer of bladder and are considered one of the more treatable forms of bladder cancer." []	1143307	\N	\N	EFO	3	EFO	disease staging	Ta stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005309	"Ta stage is a bladder carcinoma stage characterised by non-invasive papillary carcinoma, sometimes called superficial bladder carcinoma. These are early stage cancers that are found only in the lining of the innermost layer of bladder and are considered one of the more treatable forms of bladder cancer." []	2025996	\N	\N	EFO	4	EFO	disposition	Ta stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005309	"Ta stage is a bladder carcinoma stage characterised by non-invasive papillary carcinoma, sometimes called superficial bladder carcinoma. These are early stage cancers that are found only in the lining of the innermost layer of bladder and are considered one of the more treatable forms of bladder cancer." []	3178391	\N	\N	EFO	5	EFO	material property	Ta stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005309	"Ta stage is a bladder carcinoma stage characterised by non-invasive papillary carcinoma, sometimes called superficial bladder carcinoma. These are early stage cancers that are found only in the lining of the innermost layer of bladder and are considered one of the more treatable forms of bladder cancer." []	4388207	\N	\N	EFO	6	EFO	experimental factor	Ta stage
EFO:0005310	\N	\N	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	EFO:0005310	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	67052	\N	\N	EFO	0	EFO	RIP-seq	RIP-seq
EFO:0005032	EFO:0005310	\N	"IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes.\\nAs an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process." []	EFO:0005310	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	208416	\N	\N	EFO	1	EFO	IP-seq	RIP-seq
EFO:0002697	EFO:0005032	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0005310	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	561572	\N	\N	EFO	2	EFO	assay by high throughput sequencer	RIP-seq
EFO:0004120	EFO:0005032	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0005310	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	561573	\N	\N	EFO	2	EFO	ArrayExpress experiment type	RIP-seq
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0005310	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	1143308	\N	\N	EFO	3	EFO	assay by sequencer	RIP-seq
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005310	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	1143309	\N	\N	EFO	3	EFO	experimental process	RIP-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0005310	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	2025997	\N	\N	EFO	4	EFO	assay by instrument	RIP-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005310	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	5408804	\N	\N	EFO	7	EFO	planned process	RIP-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005310	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	3178392	\N	\N	EFO	5	EFO	assay	RIP-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005310	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	5817370	\N	\N	EFO	8	EFO	process	RIP-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005310	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	4388208	\N	\N	EFO	6	EFO	experimental process	RIP-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005310	"A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation." []	6409748	\N	\N	EFO	9	EFO	experimental factor	RIP-seq
EFO:0005313	\N	\N	"" []	EFO:0005313	"" []	67053	\N	\N	EFO	0	EFO	picomole per microliter	picomole per microliter
UO:0000051	EFO:0005313	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0005313	"" []	208417	\N	\N	EFO	1	EFO	concentration unit	picomole per microliter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0005313	"" []	561574	\N	\N	EFO	2	EFO	derived unit	picomole per microliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0005313	"" []	1143310	\N	\N	EFO	3	EFO	unit	picomole per microliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005313	"" []	2025999	\N	\N	EFO	4	EFO	information entity	picomole per microliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005313	"" []	3178394	\N	\N	EFO	5	EFO	experimental factor	picomole per microliter
EFO:0005314	\N	\N	"" []	EFO:0005314	"" []	67054	\N	\N	EFO	0	EFO	femtomole per nanogram	femtomole per nanogram
UO:0000051	EFO:0005314	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0005314	"" []	208418	\N	\N	EFO	1	EFO	concentration unit	femtomole per nanogram
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0005314	"" []	561575	\N	\N	EFO	2	EFO	derived unit	femtomole per nanogram
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0005314	"" []	1143311	\N	\N	EFO	3	EFO	unit	femtomole per nanogram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005314	"" []	2026000	\N	\N	EFO	4	EFO	information entity	femtomole per nanogram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005314	"" []	3178395	\N	\N	EFO	5	EFO	experimental factor	femtomole per nanogram
EFO:0005315	\N	\N	"A genetic transformation that the modification of the genetic material (either coding or non-coding) of an organism is caused by mutagenic compounds or irradiation" []	EFO:0005315	"A genetic transformation that the modification of the genetic material (either coding or non-coding) of an organism is caused by mutagenic compounds or irradiation" []	67055	\N	\N	EFO	0	EFO	induced mutation	induced mutation
EFO:0000510	EFO:0005315	\N	"A genetic modification of the genome of  an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection." []	EFO:0005315	"A genetic transformation that the modification of the genetic material (either coding or non-coding) of an organism is caused by mutagenic compounds or irradiation" []	208419	\N	\N	EFO	1	EFO	genetic modification	induced mutation
EFO:0002694	EFO:0000510	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005315	"A genetic transformation that the modification of the genetic material (either coding or non-coding) of an organism is caused by mutagenic compounds or irradiation" []	561576	\N	\N	EFO	2	EFO	experimental process	induced mutation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005315	"A genetic transformation that the modification of the genetic material (either coding or non-coding) of an organism is caused by mutagenic compounds or irradiation" []	1143312	\N	\N	EFO	3	EFO	planned process	induced mutation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005315	"A genetic transformation that the modification of the genetic material (either coding or non-coding) of an organism is caused by mutagenic compounds or irradiation" []	2026001	\N	\N	EFO	4	EFO	process	induced mutation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005315	"A genetic transformation that the modification of the genetic material (either coding or non-coding) of an organism is caused by mutagenic compounds or irradiation" []	3178396	\N	\N	EFO	5	EFO	experimental factor	induced mutation
EFO:0005316	\N	\N	"Physical combination of several instances of like material, eg RNA extracted from samples or dishes of cell cultures into one big aliquot of cells." []	EFO:0005316	"Physical combination of several instances of like material, eg RNA extracted from samples or dishes of cell cultures into one big aliquot of cells." []	67056	\N	\N	EFO	0	EFO	sample pooling	sample pooling
EFO:0002694	EFO:0005316	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005316	"Physical combination of several instances of like material, eg RNA extracted from samples or dishes of cell cultures into one big aliquot of cells." []	208420	\N	\N	EFO	1	EFO	experimental process	sample pooling
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005316	"Physical combination of several instances of like material, eg RNA extracted from samples or dishes of cell cultures into one big aliquot of cells." []	561577	\N	\N	EFO	2	EFO	planned process	sample pooling
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005316	"Physical combination of several instances of like material, eg RNA extracted from samples or dishes of cell cultures into one big aliquot of cells." []	1143313	\N	\N	EFO	3	EFO	process	sample pooling
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005316	"Physical combination of several instances of like material, eg RNA extracted from samples or dishes of cell cultures into one big aliquot of cells." []	2026002	\N	\N	EFO	4	EFO	experimental factor	sample pooling
EFO:0005318	\N	\N	"quantification of the distance between the anterior surface of the cornea and the fovea, usually measured by A-scan ultrasonography or optical coherence biometry" []	EFO:0005318	"quantification of the distance between the anterior surface of the cornea and the fovea, usually measured by A-scan ultrasonography or optical coherence biometry" []	67057	\N	\N	EFO	0	EFO	axial length measurement	axial length measurement
EFO:0004731	EFO:0005318	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0005318	"quantification of the distance between the anterior surface of the cornea and the fovea, usually measured by A-scan ultrasonography or optical coherence biometry" []	208421	\N	\N	EFO	1	EFO	eye measurement	axial length measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005318	"quantification of the distance between the anterior surface of the cornea and the fovea, usually measured by A-scan ultrasonography or optical coherence biometry" []	561578	\N	\N	EFO	2	EFO	measurement	axial length measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005318	"quantification of the distance between the anterior surface of the cornea and the fovea, usually measured by A-scan ultrasonography or optical coherence biometry" []	1143314	\N	\N	EFO	3	EFO	information entity	axial length measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005318	"quantification of the distance between the anterior surface of the cornea and the fovea, usually measured by A-scan ultrasonography or optical coherence biometry" []	2026003	\N	\N	EFO	4	EFO	experimental factor	axial length measurement
EFO:0005319	\N	\N	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	EFO:0005319	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	67058	\N	\N	EFO	0	EFO	contact dermatitis	contact dermatitis
EFO:0003785	EFO:0005319	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0005319	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	208422	\N	\N	EFO	1	EFO	allergy	contact dermatitis
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005319	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	561579	\N	\N	EFO	2	EFO	immune system disease	contact dermatitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005319	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	1143315	\N	\N	EFO	3	EFO	disease	contact dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005319	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	2026004	\N	\N	EFO	4	EFO	disposition	contact dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005319	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	3178397	\N	\N	EFO	5	EFO	material property	contact dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005319	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	4388210	\N	\N	EFO	6	EFO	experimental factor	contact dermatitis
EFO:0005320	\N	\N	"a form of allergic contact dermatitis that results from exposure to nickel" []	EFO:0005320	"a form of allergic contact dermatitis that results from exposure to nickel" []	67059	\N	\N	EFO	0	EFO	contact dermatitis due to nickel	contact dermatitis due to nickel
EFO:0005319	EFO:0005320	\N	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	EFO:0005320	"a form of allergic contact dermatitis that results from exposure to nickel" []	208423	\N	\N	EFO	1	EFO	contact dermatitis	contact dermatitis due to nickel
EFO:0003785	EFO:0005319	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0005320	"a form of allergic contact dermatitis that results from exposure to nickel" []	561580	\N	\N	EFO	2	EFO	allergy	contact dermatitis due to nickel
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005320	"a form of allergic contact dermatitis that results from exposure to nickel" []	1143316	\N	\N	EFO	3	EFO	immune system disease	contact dermatitis due to nickel
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005320	"a form of allergic contact dermatitis that results from exposure to nickel" []	2026005	\N	\N	EFO	4	EFO	disease	contact dermatitis due to nickel
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005320	"a form of allergic contact dermatitis that results from exposure to nickel" []	3178398	\N	\N	EFO	5	EFO	disposition	contact dermatitis due to nickel
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005320	"a form of allergic contact dermatitis that results from exposure to nickel" []	4388211	\N	\N	EFO	6	EFO	material property	contact dermatitis due to nickel
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005320	"a form of allergic contact dermatitis that results from exposure to nickel" []	5408805	\N	\N	EFO	7	EFO	experimental factor	contact dermatitis due to nickel
EFO:0005321	\N	\N	"a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors" []	EFO:0005321	"a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors" []	67060	\N	\N	EFO	0	EFO	molar-incisor hypomineralization	molar-incisor hypomineralization
EFO:0000524	EFO:0005321	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0005321	"a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors" []	208424	\N	\N	EFO	1	EFO	head disease	molar-incisor hypomineralization
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005321	"a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors" []	561581	\N	\N	EFO	2	EFO	disease	molar-incisor hypomineralization
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005321	"a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors" []	1143317	\N	\N	EFO	3	EFO	disposition	molar-incisor hypomineralization
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005321	"a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors" []	2026006	\N	\N	EFO	4	EFO	material property	molar-incisor hypomineralization
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005321	"a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors" []	3178399	\N	\N	EFO	5	EFO	experimental factor	molar-incisor hypomineralization
EFO:0005322	\N	\N	"bavioural manifestation including low levels of empathy, absence of guilt and emotional unresponsiveness" []	EFO:0005322	"bavioural manifestation including low levels of empathy, absence of guilt and emotional unresponsiveness" []	67061	\N	\N	EFO	0	EFO	callous-unemotional behaviour	callous-unemotional behaviour
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0005322	"bavioural manifestation including low levels of empathy, absence of guilt and emotional unresponsiveness" []	194716	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	callous-unemotional behaviour
EFO:0005323	\N	\N	"clinical manifestation that occurs as a result of a surgical intervention" []	EFO:0005323	"clinical manifestation that occurs as a result of a surgical intervention" []	67062	\N	\N	EFO	0	EFO	post-operative sign or symptom	post-operative sign or symptom
EFO:0003765	EFO:0005323	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0005323	"clinical manifestation that occurs as a result of a surgical intervention" []	208425	\N	\N	EFO	1	EFO	sign or symptom	post-operative sign or symptom
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0005323	"clinical manifestation that occurs as a result of a surgical intervention" []	561582	\N	\N	EFO	2	EFO	phenotype	post-operative sign or symptom
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0005323	"clinical manifestation that occurs as a result of a surgical intervention" []	1143318	\N	\N	EFO	3	EFO	quality	post-operative sign or symptom
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005323	"clinical manifestation that occurs as a result of a surgical intervention" []	2026007	\N	\N	EFO	4	EFO	material property	post-operative sign or symptom
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005323	"clinical manifestation that occurs as a result of a surgical intervention" []	3178400	\N	\N	EFO	5	EFO	experimental factor	post-operative sign or symptom
EFO:0005324	\N	\N	"sensory disturbance, such as hypoesthesia or dysesthesia, that occurs as a result of a surgical intervention, possibly but not necessarily due to a nerve injury" []	EFO:0005324	"sensory disturbance, such as hypoesthesia or dysesthesia, that occurs as a result of a surgical intervention, possibly but not necessarily due to a nerve injury" []	67063	\N	\N	EFO	0	EFO	post-operative sensory disturbance	post-operative sensory disturbance
EFO:0005323	EFO:0005324	\N	"clinical manifestation that occurs as a result of a surgical intervention" []	EFO:0005324	"sensory disturbance, such as hypoesthesia or dysesthesia, that occurs as a result of a surgical intervention, possibly but not necessarily due to a nerve injury" []	208426	\N	\N	EFO	1	EFO	post-operative sign or symptom	post-operative sensory disturbance
EFO:0003765	EFO:0005323	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0005324	"sensory disturbance, such as hypoesthesia or dysesthesia, that occurs as a result of a surgical intervention, possibly but not necessarily due to a nerve injury" []	561583	\N	\N	EFO	2	EFO	sign or symptom	post-operative sensory disturbance
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0005324	"sensory disturbance, such as hypoesthesia or dysesthesia, that occurs as a result of a surgical intervention, possibly but not necessarily due to a nerve injury" []	1143319	\N	\N	EFO	3	EFO	phenotype	post-operative sensory disturbance
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0005324	"sensory disturbance, such as hypoesthesia or dysesthesia, that occurs as a result of a surgical intervention, possibly but not necessarily due to a nerve injury" []	2026008	\N	\N	EFO	4	EFO	quality	post-operative sensory disturbance
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005324	"sensory disturbance, such as hypoesthesia or dysesthesia, that occurs as a result of a surgical intervention, possibly but not necessarily due to a nerve injury" []	3178401	\N	\N	EFO	5	EFO	material property	post-operative sensory disturbance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005324	"sensory disturbance, such as hypoesthesia or dysesthesia, that occurs as a result of a surgical intervention, possibly but not necessarily due to a nerve injury" []	4388212	\N	\N	EFO	6	EFO	experimental factor	post-operative sensory disturbance
EFO:0005325	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antiotensin-converting enzyme inhibitor." []	EFO:0005325	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antiotensin-converting enzyme inhibitor." []	67064	\N	\N	EFO	0	EFO	response to angiotensin-converting enzyme inhibitor	response to angiotensin-converting enzyme inhibitor
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0005325	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antiotensin-converting enzyme inhibitor." []	194717	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to angiotensin-converting enzyme inhibitor
EFO:0005332	\N	\N	"" []	EFO:0005332	"" []	67065	\N	\N	EFO	0	EFO	GM18505	GM18505
EFO:0001640	EFO:0005332	\N	"" []	EFO:0005332	"" []	208427	\N	\N	EFO	1	EFO	B cell derived cell line	GM18505
EFO:0002888	EFO:0005332	\N	"" []	EFO:0005332	"" []	208428	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM18505
EFO:0002926	EFO:0005332	\N	"" []	EFO:0005332	"" []	208429	\N	\N	EFO	1	EFO	ENCODE cell line	GM18505
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005332	"" []	561584	\N	\N	EFO	2	EFO	cell line	GM18505
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005332	"" []	561585	\N	\N	EFO	2	EFO	cell line	GM18505
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005332	"" []	561586	\N	\N	EFO	2	EFO	cell line	GM18505
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005332	"" []	1143320	\N	\N	EFO	3	EFO	material entity	GM18505
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005332	"" []	2026009	\N	\N	EFO	4	EFO	experimental factor	GM18505
EFO:0005333	\N	\N	"" []	EFO:0005333	"" []	67066	\N	\N	EFO	0	EFO	GM08714	GM08714
EFO:0001640	EFO:0005333	\N	"" []	EFO:0005333	"" []	208430	\N	\N	EFO	1	EFO	B cell derived cell line	GM08714
EFO:0002888	EFO:0005333	\N	"" []	EFO:0005333	"" []	208431	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM08714
EFO:0002926	EFO:0005333	\N	"" []	EFO:0005333	"" []	208432	\N	\N	EFO	1	EFO	ENCODE cell line	GM08714
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005333	"" []	561587	\N	\N	EFO	2	EFO	cell line	GM08714
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005333	"" []	561588	\N	\N	EFO	2	EFO	cell line	GM08714
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005333	"" []	561589	\N	\N	EFO	2	EFO	cell line	GM08714
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005333	"" []	1143321	\N	\N	EFO	3	EFO	material entity	GM08714
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005333	"" []	2026010	\N	\N	EFO	4	EFO	experimental factor	GM08714
EFO:0005334	\N	\N	"" []	EFO:0005334	"" []	67067	\N	\N	EFO	0	EFO	GM10248	GM10248
EFO:0001640	EFO:0005334	\N	"" []	EFO:0005334	"" []	208433	\N	\N	EFO	1	EFO	B cell derived cell line	GM10248
EFO:0002888	EFO:0005334	\N	"" []	EFO:0005334	"" []	208434	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM10248
EFO:0002926	EFO:0005334	\N	"" []	EFO:0005334	"" []	208435	\N	\N	EFO	1	EFO	ENCODE cell line	GM10248
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005334	"" []	561590	\N	\N	EFO	2	EFO	cell line	GM10248
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005334	"" []	561591	\N	\N	EFO	2	EFO	cell line	GM10248
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005334	"" []	561592	\N	\N	EFO	2	EFO	cell line	GM10248
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005334	"" []	1143322	\N	\N	EFO	3	EFO	material entity	GM10248
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005334	"" []	2026011	\N	\N	EFO	4	EFO	experimental factor	GM10248
EFO:0005335	\N	\N	"" []	EFO:0005335	"" []	67068	\N	\N	EFO	0	EFO	GM10266	GM10266
EFO:0001640	EFO:0005335	\N	"" []	EFO:0005335	"" []	208436	\N	\N	EFO	1	EFO	B cell derived cell line	GM10266
EFO:0002888	EFO:0005335	\N	"" []	EFO:0005335	"" []	208437	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM10266
EFO:0002926	EFO:0005335	\N	"" []	EFO:0005335	"" []	208438	\N	\N	EFO	1	EFO	ENCODE cell line	GM10266
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005335	"" []	561593	\N	\N	EFO	2	EFO	cell line	GM10266
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005335	"" []	561594	\N	\N	EFO	2	EFO	cell line	GM10266
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005335	"" []	561595	\N	\N	EFO	2	EFO	cell line	GM10266
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005335	"" []	1143323	\N	\N	EFO	3	EFO	material entity	GM10266
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005335	"" []	2026012	\N	\N	EFO	4	EFO	experimental factor	GM10266
EFO:0005336	\N	\N	"" []	EFO:0005336	"" []	67069	\N	\N	EFO	0	EFO	GM10847	GM10847
EFO:0001640	EFO:0005336	\N	"" []	EFO:0005336	"" []	208439	\N	\N	EFO	1	EFO	B cell derived cell line	GM10847
EFO:0002888	EFO:0005336	\N	"" []	EFO:0005336	"" []	208440	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM10847
EFO:0002926	EFO:0005336	\N	"" []	EFO:0005336	"" []	208441	\N	\N	EFO	1	EFO	ENCODE cell line	GM10847
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005336	"" []	561596	\N	\N	EFO	2	EFO	cell line	GM10847
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005336	"" []	561597	\N	\N	EFO	2	EFO	cell line	GM10847
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005336	"" []	561598	\N	\N	EFO	2	EFO	cell line	GM10847
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005336	"" []	1143324	\N	\N	EFO	3	EFO	material entity	GM10847
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005336	"" []	2026013	\N	\N	EFO	4	EFO	experimental factor	GM10847
EFO:0005337	\N	\N	"" []	EFO:0005337	"" []	67070	\N	\N	EFO	0	EFO	GM12864	GM12864
EFO:0001640	EFO:0005337	\N	"" []	EFO:0005337	"" []	208442	\N	\N	EFO	1	EFO	B cell derived cell line	GM12864
EFO:0002888	EFO:0005337	\N	"" []	EFO:0005337	"" []	208443	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12864
EFO:0002926	EFO:0005337	\N	"" []	EFO:0005337	"" []	208444	\N	\N	EFO	1	EFO	ENCODE cell line	GM12864
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005337	"" []	561599	\N	\N	EFO	2	EFO	cell line	GM12864
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005337	"" []	561600	\N	\N	EFO	2	EFO	cell line	GM12864
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005337	"" []	561601	\N	\N	EFO	2	EFO	cell line	GM12864
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005337	"" []	1143325	\N	\N	EFO	3	EFO	material entity	GM12864
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005337	"" []	2026014	\N	\N	EFO	4	EFO	experimental factor	GM12864
EFO:0005338	\N	\N	"" []	EFO:0005338	"" []	67071	\N	\N	EFO	0	EFO	GM12865	GM12865
EFO:0001640	EFO:0005338	\N	"" []	EFO:0005338	"" []	208445	\N	\N	EFO	1	EFO	B cell derived cell line	GM12865
EFO:0002888	EFO:0005338	\N	"" []	EFO:0005338	"" []	208446	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12865
EFO:0002926	EFO:0005338	\N	"" []	EFO:0005338	"" []	208447	\N	\N	EFO	1	EFO	ENCODE cell line	GM12865
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005338	"" []	561602	\N	\N	EFO	2	EFO	cell line	GM12865
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005338	"" []	561603	\N	\N	EFO	2	EFO	cell line	GM12865
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005338	"" []	561604	\N	\N	EFO	2	EFO	cell line	GM12865
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005338	"" []	1143326	\N	\N	EFO	3	EFO	material entity	GM12865
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005338	"" []	2026015	\N	\N	EFO	4	EFO	experimental factor	GM12865
EFO:0005339	\N	\N	"" []	EFO:0005339	"" []	67072	\N	\N	EFO	0	EFO	GM12866	GM12866
EFO:0001640	EFO:0005339	\N	"" []	EFO:0005339	"" []	208448	\N	\N	EFO	1	EFO	B cell derived cell line	GM12866
EFO:0002888	EFO:0005339	\N	"" []	EFO:0005339	"" []	208449	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12866
EFO:0002926	EFO:0005339	\N	"" []	EFO:0005339	"" []	208450	\N	\N	EFO	1	EFO	ENCODE cell line	GM12866
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005339	"" []	561605	\N	\N	EFO	2	EFO	cell line	GM12866
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005339	"" []	561606	\N	\N	EFO	2	EFO	cell line	GM12866
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005339	"" []	561607	\N	\N	EFO	2	EFO	cell line	GM12866
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005339	"" []	1143327	\N	\N	EFO	3	EFO	material entity	GM12866
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005339	"" []	2026016	\N	\N	EFO	4	EFO	experimental factor	GM12866
EFO:0005340	\N	\N	"" []	EFO:0005340	"" []	67073	\N	\N	EFO	0	EFO	GM12867	GM12867
EFO:0001640	EFO:0005340	\N	"" []	EFO:0005340	"" []	208451	\N	\N	EFO	1	EFO	B cell derived cell line	GM12867
EFO:0002888	EFO:0005340	\N	"" []	EFO:0005340	"" []	208452	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12867
EFO:0002926	EFO:0005340	\N	"" []	EFO:0005340	"" []	208453	\N	\N	EFO	1	EFO	ENCODE cell line	GM12867
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005340	"" []	561608	\N	\N	EFO	2	EFO	cell line	GM12867
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005340	"" []	561609	\N	\N	EFO	2	EFO	cell line	GM12867
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005340	"" []	561610	\N	\N	EFO	2	EFO	cell line	GM12867
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005340	"" []	1143328	\N	\N	EFO	3	EFO	material entity	GM12867
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005340	"" []	2026017	\N	\N	EFO	4	EFO	experimental factor	GM12867
EFO:0005341	\N	\N	"" []	EFO:0005341	"" []	67074	\N	\N	EFO	0	EFO	GM12868	GM12868
EFO:0001640	EFO:0005341	\N	"" []	EFO:0005341	"" []	208454	\N	\N	EFO	1	EFO	B cell derived cell line	GM12868
EFO:0002888	EFO:0005341	\N	"" []	EFO:0005341	"" []	208455	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12868
EFO:0002926	EFO:0005341	\N	"" []	EFO:0005341	"" []	208456	\N	\N	EFO	1	EFO	ENCODE cell line	GM12868
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005341	"" []	561611	\N	\N	EFO	2	EFO	cell line	GM12868
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005341	"" []	561612	\N	\N	EFO	2	EFO	cell line	GM12868
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005341	"" []	561613	\N	\N	EFO	2	EFO	cell line	GM12868
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005341	"" []	1143329	\N	\N	EFO	3	EFO	material entity	GM12868
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005341	"" []	2026018	\N	\N	EFO	4	EFO	experimental factor	GM12868
EFO:0005342	\N	\N	"" []	EFO:0005342	"" []	67075	\N	\N	EFO	0	EFO	GM12869	GM12869
EFO:0001640	EFO:0005342	\N	"" []	EFO:0005342	"" []	208457	\N	\N	EFO	1	EFO	B cell derived cell line	GM12869
EFO:0002888	EFO:0005342	\N	"" []	EFO:0005342	"" []	208458	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12869
EFO:0002926	EFO:0005342	\N	"" []	EFO:0005342	"" []	208459	\N	\N	EFO	1	EFO	ENCODE cell line	GM12869
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005342	"" []	561614	\N	\N	EFO	2	EFO	cell line	GM12869
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005342	"" []	561615	\N	\N	EFO	2	EFO	cell line	GM12869
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005342	"" []	561616	\N	\N	EFO	2	EFO	cell line	GM12869
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005342	"" []	1143330	\N	\N	EFO	3	EFO	material entity	GM12869
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005342	"" []	2026019	\N	\N	EFO	4	EFO	experimental factor	GM12869
EFO:0005343	\N	\N	"" []	EFO:0005343	"" []	67076	\N	\N	EFO	0	EFO	GM12870	GM12870
EFO:0001640	EFO:0005343	\N	"" []	EFO:0005343	"" []	208460	\N	\N	EFO	1	EFO	B cell derived cell line	GM12870
EFO:0002888	EFO:0005343	\N	"" []	EFO:0005343	"" []	208461	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12870
EFO:0002926	EFO:0005343	\N	"" []	EFO:0005343	"" []	208462	\N	\N	EFO	1	EFO	ENCODE cell line	GM12870
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005343	"" []	561617	\N	\N	EFO	2	EFO	cell line	GM12870
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005343	"" []	561618	\N	\N	EFO	2	EFO	cell line	GM12870
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005343	"" []	561619	\N	\N	EFO	2	EFO	cell line	GM12870
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005343	"" []	1143331	\N	\N	EFO	3	EFO	material entity	GM12870
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005343	"" []	2026020	\N	\N	EFO	4	EFO	experimental factor	GM12870
EFO:0005344	\N	\N	"" []	EFO:0005344	"" []	67077	\N	\N	EFO	0	EFO	GM12871	GM12871
EFO:0001640	EFO:0005344	\N	"" []	EFO:0005344	"" []	208463	\N	\N	EFO	1	EFO	B cell derived cell line	GM12871
EFO:0002888	EFO:0005344	\N	"" []	EFO:0005344	"" []	208464	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12871
EFO:0002926	EFO:0005344	\N	"" []	EFO:0005344	"" []	208465	\N	\N	EFO	1	EFO	ENCODE cell line	GM12871
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005344	"" []	561620	\N	\N	EFO	2	EFO	cell line	GM12871
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005344	"" []	561621	\N	\N	EFO	2	EFO	cell line	GM12871
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005344	"" []	561622	\N	\N	EFO	2	EFO	cell line	GM12871
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005344	"" []	1143332	\N	\N	EFO	3	EFO	material entity	GM12871
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005344	"" []	2026021	\N	\N	EFO	4	EFO	experimental factor	GM12871
EFO:0005345	\N	\N	"" []	EFO:0005345	"" []	67078	\N	\N	EFO	0	EFO	GM13976	GM13976
EFO:0001640	EFO:0005345	\N	"" []	EFO:0005345	"" []	208466	\N	\N	EFO	1	EFO	B cell derived cell line	GM13976
EFO:0002888	EFO:0005345	\N	"" []	EFO:0005345	"" []	208467	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM13976
EFO:0002926	EFO:0005345	\N	"" []	EFO:0005345	"" []	208468	\N	\N	EFO	1	EFO	ENCODE cell line	GM13976
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005345	"" []	561623	\N	\N	EFO	2	EFO	cell line	GM13976
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005345	"" []	561624	\N	\N	EFO	2	EFO	cell line	GM13976
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005345	"" []	561625	\N	\N	EFO	2	EFO	cell line	GM13976
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005345	"" []	1143333	\N	\N	EFO	3	EFO	material entity	GM13976
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005345	"" []	2026022	\N	\N	EFO	4	EFO	experimental factor	GM13976
EFO:0005346	\N	\N	"" []	EFO:0005346	"" []	67079	\N	\N	EFO	0	EFO	GM13977	GM13977
EFO:0001640	EFO:0005346	\N	"" []	EFO:0005346	"" []	208469	\N	\N	EFO	1	EFO	B cell derived cell line	GM13977
EFO:0002888	EFO:0005346	\N	"" []	EFO:0005346	"" []	208470	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM13977
EFO:0002926	EFO:0005346	\N	"" []	EFO:0005346	"" []	208471	\N	\N	EFO	1	EFO	ENCODE cell line	GM13977
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005346	"" []	561626	\N	\N	EFO	2	EFO	cell line	GM13977
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005346	"" []	561627	\N	\N	EFO	2	EFO	cell line	GM13977
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005346	"" []	561628	\N	\N	EFO	2	EFO	cell line	GM13977
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005346	"" []	1143334	\N	\N	EFO	3	EFO	material entity	GM13977
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005346	"" []	2026023	\N	\N	EFO	4	EFO	experimental factor	GM13977
EFO:0005347	\N	\N	"" []	EFO:0005347	"" []	67080	\N	\N	EFO	0	EFO	GM15510	GM15510
EFO:0001640	EFO:0005347	\N	"" []	EFO:0005347	"" []	208472	\N	\N	EFO	1	EFO	B cell derived cell line	GM15510
EFO:0002888	EFO:0005347	\N	"" []	EFO:0005347	"" []	208473	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15510
EFO:0002926	EFO:0005347	\N	"" []	EFO:0005347	"" []	208474	\N	\N	EFO	1	EFO	ENCODE cell line	GM15510
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005347	"" []	561629	\N	\N	EFO	2	EFO	cell line	GM15510
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005347	"" []	561630	\N	\N	EFO	2	EFO	cell line	GM15510
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005347	"" []	561631	\N	\N	EFO	2	EFO	cell line	GM15510
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005347	"" []	1143335	\N	\N	EFO	3	EFO	material entity	GM15510
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005347	"" []	2026024	\N	\N	EFO	4	EFO	experimental factor	GM15510
EFO:0005348	\N	\N	"" []	EFO:0005348	"" []	67081	\N	\N	EFO	0	EFO	GM18526	GM18526
EFO:0001640	EFO:0005348	\N	"" []	EFO:0005348	"" []	208475	\N	\N	EFO	1	EFO	B cell derived cell line	GM18526
EFO:0002888	EFO:0005348	\N	"" []	EFO:0005348	"" []	208476	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM18526
EFO:0002926	EFO:0005348	\N	"" []	EFO:0005348	"" []	208477	\N	\N	EFO	1	EFO	ENCODE cell line	GM18526
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005348	"" []	561632	\N	\N	EFO	2	EFO	cell line	GM18526
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005348	"" []	561633	\N	\N	EFO	2	EFO	cell line	GM18526
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005348	"" []	561634	\N	\N	EFO	2	EFO	cell line	GM18526
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005348	"" []	1143336	\N	\N	EFO	3	EFO	material entity	GM18526
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005348	"" []	2026025	\N	\N	EFO	4	EFO	experimental factor	GM18526
EFO:0005349	\N	\N	"" []	EFO:0005349	"" []	67082	\N	\N	EFO	0	EFO	GM18951	GM18951
EFO:0001640	EFO:0005349	\N	"" []	EFO:0005349	"" []	208478	\N	\N	EFO	1	EFO	B cell derived cell line	GM18951
EFO:0002888	EFO:0005349	\N	"" []	EFO:0005349	"" []	208479	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM18951
EFO:0002926	EFO:0005349	\N	"" []	EFO:0005349	"" []	208480	\N	\N	EFO	1	EFO	ENCODE cell line	GM18951
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005349	"" []	561635	\N	\N	EFO	2	EFO	cell line	GM18951
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005349	"" []	561636	\N	\N	EFO	2	EFO	cell line	GM18951
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005349	"" []	561637	\N	\N	EFO	2	EFO	cell line	GM18951
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005349	"" []	1143337	\N	\N	EFO	3	EFO	material entity	GM18951
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005349	"" []	2026026	\N	\N	EFO	4	EFO	experimental factor	GM18951
EFO:0005350	\N	\N	"" []	EFO:0005350	"" []	67083	\N	\N	EFO	0	EFO	GM19099	GM19099
EFO:0001640	EFO:0005350	\N	"" []	EFO:0005350	"" []	208481	\N	\N	EFO	1	EFO	B cell derived cell line	GM19099
EFO:0002888	EFO:0005350	\N	"" []	EFO:0005350	"" []	208482	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM19099
EFO:0002926	EFO:0005350	\N	"" []	EFO:0005350	"" []	208483	\N	\N	EFO	1	EFO	ENCODE cell line	GM19099
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005350	"" []	561638	\N	\N	EFO	2	EFO	cell line	GM19099
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005350	"" []	561639	\N	\N	EFO	2	EFO	cell line	GM19099
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005350	"" []	561640	\N	\N	EFO	2	EFO	cell line	GM19099
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005350	"" []	1143338	\N	\N	EFO	3	EFO	material entity	GM19099
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005350	"" []	2026027	\N	\N	EFO	4	EFO	experimental factor	GM19099
EFO:0005351	\N	\N	"" []	EFO:0005351	"" []	67084	\N	\N	EFO	0	EFO	GM19193	GM19193
EFO:0001640	EFO:0005351	\N	"" []	EFO:0005351	"" []	208484	\N	\N	EFO	1	EFO	B cell derived cell line	GM19193
EFO:0002888	EFO:0005351	\N	"" []	EFO:0005351	"" []	208485	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM19193
EFO:0002926	EFO:0005351	\N	"" []	EFO:0005351	"" []	208486	\N	\N	EFO	1	EFO	ENCODE cell line	GM19193
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005351	"" []	561641	\N	\N	EFO	2	EFO	cell line	GM19193
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005351	"" []	561642	\N	\N	EFO	2	EFO	cell line	GM19193
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005351	"" []	561643	\N	\N	EFO	2	EFO	cell line	GM19193
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005351	"" []	1143339	\N	\N	EFO	3	EFO	material entity	GM19193
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005351	"" []	2026028	\N	\N	EFO	4	EFO	experimental factor	GM19193
EFO:0005352	\N	\N	"" []	EFO:0005352	"" []	67085	\N	\N	EFO	0	EFO	GM20000	GM20000
EFO:0001640	EFO:0005352	\N	"" []	EFO:0005352	"" []	208487	\N	\N	EFO	1	EFO	B cell derived cell line	GM20000
EFO:0002888	EFO:0005352	\N	"" []	EFO:0005352	"" []	208488	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM20000
EFO:0002926	EFO:0005352	\N	"" []	EFO:0005352	"" []	208489	\N	\N	EFO	1	EFO	ENCODE cell line	GM20000
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005352	"" []	561644	\N	\N	EFO	2	EFO	cell line	GM20000
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005352	"" []	561645	\N	\N	EFO	2	EFO	cell line	GM20000
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005352	"" []	561646	\N	\N	EFO	2	EFO	cell line	GM20000
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005352	"" []	1143340	\N	\N	EFO	3	EFO	material entity	GM20000
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005352	"" []	2026029	\N	\N	EFO	4	EFO	experimental factor	GM20000
EFO:0005353	\N	\N	"" []	EFO:0005353	"" []	67086	\N	\N	EFO	0	EFO	GM12801	GM12801
EFO:0001640	EFO:0005353	\N	"" []	EFO:0005353	"" []	208490	\N	\N	EFO	1	EFO	B cell derived cell line	GM12801
EFO:0002888	EFO:0005353	\N	"" []	EFO:0005353	"" []	208491	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM12801
EFO:0002926	EFO:0005353	\N	"" []	EFO:0005353	"" []	208492	\N	\N	EFO	1	EFO	ENCODE cell line	GM12801
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005353	"" []	561647	\N	\N	EFO	2	EFO	cell line	GM12801
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005353	"" []	561648	\N	\N	EFO	2	EFO	cell line	GM12801
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005353	"" []	561649	\N	\N	EFO	2	EFO	cell line	GM12801
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005353	"" []	1143341	\N	\N	EFO	3	EFO	material entity	GM12801
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005353	"" []	2026030	\N	\N	EFO	4	EFO	experimental factor	GM12801
EFO:0005354	\N	\N	"" []	EFO:0005354	"" []	67087	\N	\N	EFO	0	EFO	milligram per kilogram body weight	milligram per kilogram body weight
UO:0000051	EFO:0005354	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0005354	"" []	208493	\N	\N	EFO	1	EFO	concentration unit	milligram per kilogram body weight
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0005354	"" []	561650	\N	\N	EFO	2	EFO	derived unit	milligram per kilogram body weight
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0005354	"" []	1143342	\N	\N	EFO	3	EFO	unit	milligram per kilogram body weight
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005354	"" []	2026031	\N	\N	EFO	4	EFO	information entity	milligram per kilogram body weight
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005354	"" []	3178402	\N	\N	EFO	5	EFO	experimental factor	milligram per kilogram body weight
EFO:0005355	\N	\N	"A human embryonic stem cell line" []	EFO:0005355	"A human embryonic stem cell line" []	67088	\N	\N	EFO	0	EFO	HUES1	HUES1
EFO:0002888	EFO:0005355	\N	"" []	EFO:0005355	"A human embryonic stem cell line" []	208494	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES1
EFO:0003040	EFO:0005355	\N	"" []	EFO:0005355	"A human embryonic stem cell line" []	208495	\N	\N	EFO	1	EFO	embryonic cell line	HUES1
EFO:0005738	EFO:0005355	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0005355	"A human embryonic stem cell line" []	208496	\N	\N	EFO	1	EFO	ESC derived cell line	HUES1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005355	"A human embryonic stem cell line" []	561651	\N	\N	EFO	2	EFO	cell line	HUES1
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005355	"A human embryonic stem cell line" []	561652	\N	\N	EFO	2	EFO	cell line	HUES1
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0005355	"A human embryonic stem cell line" []	561653	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005355	"A human embryonic stem cell line" []	2026033	\N	\N	EFO	4	EFO	material entity	HUES1
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005355	"A human embryonic stem cell line" []	1143344	\N	\N	EFO	3	EFO	cell line	HUES1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005355	"A human embryonic stem cell line" []	2999625	\N	\N	EFO	5	EFO	experimental factor	HUES1
EFO:0005356	\N	\N	"" []	EFO:0005356	"" []	67089	\N	\N	EFO	0	EFO	CAL120	CAL120
EFO:0002885	EFO:0005356	\N	"" []	EFO:0005356	"" []	208497	\N	\N	EFO	1	EFO	breast cancer cell line	CAL120
EFO:0002888	EFO:0005356	\N	"" []	EFO:0005356	"" []	208498	\N	\N	EFO	1	EFO	Homo sapiens cell line	CAL120
EFO:0001639	EFO:0002885	\N	"" []	EFO:0005356	"" []	561654	\N	\N	EFO	2	EFO	cancer cell line	CAL120
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005356	"" []	561655	\N	\N	EFO	2	EFO	cell line	CAL120
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005356	"" []	1143345	\N	\N	EFO	3	EFO	cell line	CAL120
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005356	"" []	2026034	\N	\N	EFO	4	EFO	material entity	CAL120
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005356	"" []	2999626	\N	\N	EFO	5	EFO	experimental factor	CAL120
EFO:0005357	\N	\N	"" []	EFO:0005357	"" []	67090	\N	\N	EFO	0	EFO	CAL148	CAL148
EFO:0002885	EFO:0005357	\N	"" []	EFO:0005357	"" []	208499	\N	\N	EFO	1	EFO	breast cancer cell line	CAL148
EFO:0002888	EFO:0005357	\N	"" []	EFO:0005357	"" []	208500	\N	\N	EFO	1	EFO	Homo sapiens cell line	CAL148
EFO:0001639	EFO:0002885	\N	"" []	EFO:0005357	"" []	561656	\N	\N	EFO	2	EFO	cancer cell line	CAL148
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005357	"" []	561657	\N	\N	EFO	2	EFO	cell line	CAL148
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005357	"" []	1143347	\N	\N	EFO	3	EFO	cell line	CAL148
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005357	"" []	2026036	\N	\N	EFO	4	EFO	material entity	CAL148
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005357	"" []	2999627	\N	\N	EFO	5	EFO	experimental factor	CAL148
EFO:0005358	\N	\N	"" []	EFO:0005358	"" []	67091	\N	\N	EFO	0	EFO	CAL51	CAL51
EFO:0002885	EFO:0005358	\N	"" []	EFO:0005358	"" []	208501	\N	\N	EFO	1	EFO	breast cancer cell line	CAL51
EFO:0002888	EFO:0005358	\N	"" []	EFO:0005358	"" []	208502	\N	\N	EFO	1	EFO	Homo sapiens cell line	CAL51
EFO:0001639	EFO:0002885	\N	"" []	EFO:0005358	"" []	561658	\N	\N	EFO	2	EFO	cancer cell line	CAL51
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005358	"" []	561659	\N	\N	EFO	2	EFO	cell line	CAL51
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005358	"" []	1143349	\N	\N	EFO	3	EFO	cell line	CAL51
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005358	"" []	2026038	\N	\N	EFO	4	EFO	material entity	CAL51
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005358	"" []	2999628	\N	\N	EFO	5	EFO	experimental factor	CAL51
EFO:0005359	\N	\N	"" []	EFO:0005359	"" []	67092	\N	\N	EFO	0	EFO	CAL851	CAL851
EFO:0002885	EFO:0005359	\N	"" []	EFO:0005359	"" []	208503	\N	\N	EFO	1	EFO	breast cancer cell line	CAL851
EFO:0002888	EFO:0005359	\N	"" []	EFO:0005359	"" []	208504	\N	\N	EFO	1	EFO	Homo sapiens cell line	CAL851
EFO:0001639	EFO:0002885	\N	"" []	EFO:0005359	"" []	561660	\N	\N	EFO	2	EFO	cancer cell line	CAL851
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005359	"" []	561661	\N	\N	EFO	2	EFO	cell line	CAL851
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005359	"" []	1143351	\N	\N	EFO	3	EFO	cell line	CAL851
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005359	"" []	2026040	\N	\N	EFO	4	EFO	material entity	CAL851
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005359	"" []	2999629	\N	\N	EFO	5	EFO	experimental factor	CAL851
EFO:0005360	\N	\N	"" []	EFO:0005360	"" []	67093	\N	\N	EFO	0	EFO	CCD-11Lu	CCD-11Lu
EFO:0002009	EFO:0005360	\N	"" []	EFO:0005360	"" []	208505	\N	\N	EFO	1	EFO	fibroblast derived cell line	CCD-11Lu
EFO:0002888	EFO:0005360	\N	"" []	EFO:0005360	"" []	208506	\N	\N	EFO	1	EFO	Homo sapiens cell line	CCD-11Lu
EFO:0002922	EFO:0005360	\N	"" []	EFO:0005360	"" []	208507	\N	\N	EFO	1	EFO	normal cell line	CCD-11Lu
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005360	"" []	561662	\N	\N	EFO	2	EFO	cell line	CCD-11Lu
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005360	"" []	561663	\N	\N	EFO	2	EFO	cell line	CCD-11Lu
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005360	"" []	561664	\N	\N	EFO	2	EFO	cell line	CCD-11Lu
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005360	"" []	1143353	\N	\N	EFO	3	EFO	material entity	CCD-11Lu
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005360	"" []	2026042	\N	\N	EFO	4	EFO	experimental factor	CCD-11Lu
EFO:0005361	\N	\N	"" []	EFO:0005361	"" []	67094	\N	\N	EFO	0	EFO	CCD-13Lu	CCD-13Lu
EFO:0002009	EFO:0005361	\N	"" []	EFO:0005361	"" []	208508	\N	\N	EFO	1	EFO	fibroblast derived cell line	CCD-13Lu
EFO:0002888	EFO:0005361	\N	"" []	EFO:0005361	"" []	208509	\N	\N	EFO	1	EFO	Homo sapiens cell line	CCD-13Lu
EFO:0002922	EFO:0005361	\N	"" []	EFO:0005361	"" []	208510	\N	\N	EFO	1	EFO	normal cell line	CCD-13Lu
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005361	"" []	561665	\N	\N	EFO	2	EFO	cell line	CCD-13Lu
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005361	"" []	561666	\N	\N	EFO	2	EFO	cell line	CCD-13Lu
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005361	"" []	561667	\N	\N	EFO	2	EFO	cell line	CCD-13Lu
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005361	"" []	1143354	\N	\N	EFO	3	EFO	material entity	CCD-13Lu
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005361	"" []	2026043	\N	\N	EFO	4	EFO	experimental factor	CCD-13Lu
EFO:0005362	\N	\N	"" []	EFO:0005362	"" []	67095	\N	\N	EFO	0	EFO	CCD-16Lu	CCD-16Lu
EFO:0002009	EFO:0005362	\N	"" []	EFO:0005362	"" []	208511	\N	\N	EFO	1	EFO	fibroblast derived cell line	CCD-16Lu
EFO:0002888	EFO:0005362	\N	"" []	EFO:0005362	"" []	208512	\N	\N	EFO	1	EFO	Homo sapiens cell line	CCD-16Lu
EFO:0002922	EFO:0005362	\N	"" []	EFO:0005362	"" []	208513	\N	\N	EFO	1	EFO	normal cell line	CCD-16Lu
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005362	"" []	561668	\N	\N	EFO	2	EFO	cell line	CCD-16Lu
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005362	"" []	561669	\N	\N	EFO	2	EFO	cell line	CCD-16Lu
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005362	"" []	561670	\N	\N	EFO	2	EFO	cell line	CCD-16Lu
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005362	"" []	1143355	\N	\N	EFO	3	EFO	material entity	CCD-16Lu
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005362	"" []	2026044	\N	\N	EFO	4	EFO	experimental factor	CCD-16Lu
EFO:0005363	\N	\N	"" []	EFO:0005363	"" []	67096	\N	\N	EFO	0	EFO	CCD-19Lu	CCD-19Lu
EFO:0002009	EFO:0005363	\N	"" []	EFO:0005363	"" []	208514	\N	\N	EFO	1	EFO	fibroblast derived cell line	CCD-19Lu
EFO:0002888	EFO:0005363	\N	"" []	EFO:0005363	"" []	208515	\N	\N	EFO	1	EFO	Homo sapiens cell line	CCD-19Lu
EFO:0002922	EFO:0005363	\N	"" []	EFO:0005363	"" []	208516	\N	\N	EFO	1	EFO	normal cell line	CCD-19Lu
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005363	"" []	561671	\N	\N	EFO	2	EFO	cell line	CCD-19Lu
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005363	"" []	561672	\N	\N	EFO	2	EFO	cell line	CCD-19Lu
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005363	"" []	561673	\N	\N	EFO	2	EFO	cell line	CCD-19Lu
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005363	"" []	1143356	\N	\N	EFO	3	EFO	material entity	CCD-19Lu
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005363	"" []	2026045	\N	\N	EFO	4	EFO	experimental factor	CCD-19Lu
EFO:0005364	\N	\N	"" []	EFO:0005364	"" []	67097	\N	\N	EFO	0	EFO	CCD-25Lu	CCD-25Lu
EFO:0002009	EFO:0005364	\N	"" []	EFO:0005364	"" []	208517	\N	\N	EFO	1	EFO	fibroblast derived cell line	CCD-25Lu
EFO:0002888	EFO:0005364	\N	"" []	EFO:0005364	"" []	208518	\N	\N	EFO	1	EFO	Homo sapiens cell line	CCD-25Lu
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005364	"" []	561674	\N	\N	EFO	2	EFO	cell line	CCD-25Lu
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005364	"" []	561675	\N	\N	EFO	2	EFO	cell line	CCD-25Lu
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005364	"" []	1143357	\N	\N	EFO	3	EFO	material entity	CCD-25Lu
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005364	"" []	2026046	\N	\N	EFO	4	EFO	experimental factor	CCD-25Lu
EFO:0005365	\N	\N	"" []	EFO:0005365	"" []	67098	\N	\N	EFO	0	EFO	CCD-29Lu	CCD-29Lu
EFO:0002009	EFO:0005365	\N	"" []	EFO:0005365	"" []	208519	\N	\N	EFO	1	EFO	fibroblast derived cell line	CCD-29Lu
EFO:0002888	EFO:0005365	\N	"" []	EFO:0005365	"" []	208520	\N	\N	EFO	1	EFO	Homo sapiens cell line	CCD-29Lu
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005365	"" []	561676	\N	\N	EFO	2	EFO	cell line	CCD-29Lu
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005365	"" []	561677	\N	\N	EFO	2	EFO	cell line	CCD-29Lu
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005365	"" []	1143358	\N	\N	EFO	3	EFO	material entity	CCD-29Lu
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005365	"" []	2026047	\N	\N	EFO	4	EFO	experimental factor	CCD-29Lu
EFO:0005366	\N	\N	"" []	EFO:0005366	"" []	67099	\N	\N	EFO	0	EFO	CCD-33Lu	CCD-33Lu
EFO:0002009	EFO:0005366	\N	"" []	EFO:0005366	"" []	208521	\N	\N	EFO	1	EFO	fibroblast derived cell line	CCD-33Lu
EFO:0002888	EFO:0005366	\N	"" []	EFO:0005366	"" []	208522	\N	\N	EFO	1	EFO	Homo sapiens cell line	CCD-33Lu
EFO:0002922	EFO:0005366	\N	"" []	EFO:0005366	"" []	208523	\N	\N	EFO	1	EFO	normal cell line	CCD-33Lu
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005366	"" []	561678	\N	\N	EFO	2	EFO	cell line	CCD-33Lu
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005366	"" []	561679	\N	\N	EFO	2	EFO	cell line	CCD-33Lu
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005366	"" []	561680	\N	\N	EFO	2	EFO	cell line	CCD-33Lu
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005366	"" []	1143359	\N	\N	EFO	3	EFO	material entity	CCD-33Lu
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005366	"" []	2026048	\N	\N	EFO	4	EFO	experimental factor	CCD-33Lu
EFO:0005367	\N	\N	"" []	EFO:0005367	"" []	67100	\N	\N	EFO	0	EFO	CCD-8Lu	CCD-8Lu
EFO:0002009	EFO:0005367	\N	"" []	EFO:0005367	"" []	208524	\N	\N	EFO	1	EFO	fibroblast derived cell line	CCD-8Lu
EFO:0002888	EFO:0005367	\N	"" []	EFO:0005367	"" []	208525	\N	\N	EFO	1	EFO	Homo sapiens cell line	CCD-8Lu
EFO:0002922	EFO:0005367	\N	"" []	EFO:0005367	"" []	208526	\N	\N	EFO	1	EFO	normal cell line	CCD-8Lu
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005367	"" []	561681	\N	\N	EFO	2	EFO	cell line	CCD-8Lu
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005367	"" []	561682	\N	\N	EFO	2	EFO	cell line	CCD-8Lu
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005367	"" []	561683	\N	\N	EFO	2	EFO	cell line	CCD-8Lu
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005367	"" []	1143360	\N	\N	EFO	3	EFO	material entity	CCD-8Lu
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005367	"" []	2026049	\N	\N	EFO	4	EFO	experimental factor	CCD-8Lu
EFO:0005368	\N	\N	"" []	EFO:0005368	"" []	67101	\N	\N	EFO	0	EFO	HFL1	HFL1
EFO:0002009	EFO:0005368	\N	"" []	EFO:0005368	"" []	208527	\N	\N	EFO	1	EFO	fibroblast derived cell line	HFL1
EFO:0002888	EFO:0005368	\N	"" []	EFO:0005368	"" []	208528	\N	\N	EFO	1	EFO	Homo sapiens cell line	HFL1
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005368	"" []	561684	\N	\N	EFO	2	EFO	cell line	HFL1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005368	"" []	561685	\N	\N	EFO	2	EFO	cell line	HFL1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005368	"" []	1143361	\N	\N	EFO	3	EFO	material entity	HFL1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005368	"" []	2026050	\N	\N	EFO	4	EFO	experimental factor	HFL1
EFO:0005369	\N	\N	"" []	EFO:0005369	"" []	67102	\N	\N	EFO	0	EFO	Granta-519	Granta-519
EFO:0001640	EFO:0005369	\N	"" []	EFO:0005369	"" []	208529	\N	\N	EFO	1	EFO	B cell derived cell line	Granta-519
EFO:0002888	EFO:0005369	\N	"" []	EFO:0005369	"" []	208530	\N	\N	EFO	1	EFO	Homo sapiens cell line	Granta-519
EFO:0002937	EFO:0005369	\N	"" []	EFO:0005369	"" []	208531	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	Granta-519
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005369	"" []	561686	\N	\N	EFO	2	EFO	cell line	Granta-519
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005369	"" []	561687	\N	\N	EFO	2	EFO	cell line	Granta-519
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005369	"" []	561688	\N	\N	EFO	2	EFO	cancer cell line	Granta-519
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005369	"" []	2026052	\N	\N	EFO	4	EFO	material entity	Granta-519
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005369	"" []	1143363	\N	\N	EFO	3	EFO	cell line	Granta-519
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005369	"" []	2999630	\N	\N	EFO	5	EFO	experimental factor	Granta-519
EFO:0005370	\N	\N	"" []	EFO:0005370	"" []	67103	\N	\N	EFO	0	EFO	HCC2998	HCC2998
BTO:0003250	\N	\N	"" []	EFO:0005370	"" []	194718	\N	\N	EFO	0	EFO	colonic epithelium cell line	HCC2998
EFO:0001639	EFO:0005370	\N	"" []	EFO:0005370	"" []	208532	\N	\N	EFO	1	EFO	cancer cell line	HCC2998
EFO:0002888	EFO:0005370	\N	"" []	EFO:0005370	"" []	208533	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC2998
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005370	"" []	561689	\N	\N	EFO	2	EFO	cell line	HCC2998
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005370	"" []	561690	\N	\N	EFO	2	EFO	cell line	HCC2998
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005370	"" []	1143364	\N	\N	EFO	3	EFO	material entity	HCC2998
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005370	"" []	2026053	\N	\N	EFO	4	EFO	experimental factor	HCC2998
EFO:0005371	\N	\N	"" []	EFO:0005371	"" []	67104	\N	\N	EFO	0	EFO	HCC1195	HCC1195
EFO:0001639	EFO:0005371	\N	"" []	EFO:0005371	"" []	208534	\N	\N	EFO	1	EFO	cancer cell line	HCC1195
EFO:0002888	EFO:0005371	\N	"" []	EFO:0005371	"" []	208535	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1195
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005371	"" []	561691	\N	\N	EFO	2	EFO	cell line	HCC1195
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005371	"" []	561692	\N	\N	EFO	2	EFO	cell line	HCC1195
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005371	"" []	1143365	\N	\N	EFO	3	EFO	material entity	HCC1195
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005371	"" []	2026054	\N	\N	EFO	4	EFO	experimental factor	HCC1195
EFO:0005372	\N	\N	"" []	EFO:0005372	"" []	67105	\N	\N	EFO	0	EFO	HCC1419	HCC1419
EFO:0001639	EFO:0005372	\N	"" []	EFO:0005372	"" []	208536	\N	\N	EFO	1	EFO	cancer cell line	HCC1419
EFO:0001641	EFO:0005372	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005372	"" []	208537	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1419
EFO:0002884	EFO:0005372	\N	"" []	EFO:0005372	"" []	208538	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1419
EFO:0002888	EFO:0005372	\N	"" []	EFO:0005372	"" []	208539	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1419
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005372	"" []	561693	\N	\N	EFO	2	EFO	cell line	HCC1419
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005372	"" []	561694	\N	\N	EFO	2	EFO	cell line	HCC1419
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005372	"" []	561695	\N	\N	EFO	2	EFO	cell line	HCC1419
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005372	"" []	561696	\N	\N	EFO	2	EFO	cell line	HCC1419
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005372	"" []	1143366	\N	\N	EFO	3	EFO	material entity	HCC1419
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005372	"" []	2026055	\N	\N	EFO	4	EFO	experimental factor	HCC1419
EFO:0005373	\N	\N	"" []	EFO:0005373	"" []	67106	\N	\N	EFO	0	EFO	HCC1806	HCC1806
EFO:0001639	EFO:0005373	\N	"" []	EFO:0005373	"" []	208540	\N	\N	EFO	1	EFO	cancer cell line	HCC1806
EFO:0001641	EFO:0005373	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005373	"" []	208541	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC1806
EFO:0002884	EFO:0005373	\N	"" []	EFO:0005373	"" []	208542	\N	\N	EFO	1	EFO	mammary gland cell line	HCC1806
EFO:0002888	EFO:0005373	\N	"" []	EFO:0005373	"" []	208543	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC1806
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005373	"" []	561697	\N	\N	EFO	2	EFO	cell line	HCC1806
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005373	"" []	561698	\N	\N	EFO	2	EFO	cell line	HCC1806
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005373	"" []	561699	\N	\N	EFO	2	EFO	cell line	HCC1806
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005373	"" []	561700	\N	\N	EFO	2	EFO	cell line	HCC1806
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005373	"" []	1143367	\N	\N	EFO	3	EFO	material entity	HCC1806
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005373	"" []	2026056	\N	\N	EFO	4	EFO	experimental factor	HCC1806
EFO:0005374	\N	\N	"" []	EFO:0005374	"" []	67107	\N	\N	EFO	0	EFO	HCC227	HCC227
EFO:0001639	EFO:0005374	\N	"" []	EFO:0005374	"" []	208544	\N	\N	EFO	1	EFO	cancer cell line	HCC227
EFO:0002888	EFO:0005374	\N	"" []	EFO:0005374	"" []	208545	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC227
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005374	"" []	561701	\N	\N	EFO	2	EFO	cell line	HCC227
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005374	"" []	561702	\N	\N	EFO	2	EFO	cell line	HCC227
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005374	"" []	1143368	\N	\N	EFO	3	EFO	material entity	HCC227
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005374	"" []	2026057	\N	\N	EFO	4	EFO	experimental factor	HCC227
EFO:0005375	\N	\N	"" []	EFO:0005375	"" []	67108	\N	\N	EFO	0	EFO	HCC2935	HCC2935
EFO:0001639	EFO:0005375	\N	"" []	EFO:0005375	"" []	208546	\N	\N	EFO	1	EFO	cancer cell line	HCC2935
EFO:0001641	EFO:0005375	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005375	"" []	208547	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HCC2935
EFO:0002888	EFO:0005375	\N	"" []	EFO:0005375	"" []	208548	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCC2935
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005375	"" []	561703	\N	\N	EFO	2	EFO	cell line	HCC2935
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005375	"" []	561704	\N	\N	EFO	2	EFO	cell line	HCC2935
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005375	"" []	561705	\N	\N	EFO	2	EFO	cell line	HCC2935
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005375	"" []	1143369	\N	\N	EFO	3	EFO	material entity	HCC2935
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005375	"" []	2026058	\N	\N	EFO	4	EFO	experimental factor	HCC2935
EFO:0005376	\N	\N	"" []	EFO:0005376	"" []	67109	\N	\N	EFO	0	EFO	UACC-257	UACC-257
BTO:0000849	EFO:0005376	\N	"" []	EFO:0005376	"" []	208549	\N	\N	EFO	1	EFO	melanoma cell line	UACC-257
EFO:0001639	BTO:0000849	\N	"" []	EFO:0005376	"" []	561706	\N	\N	EFO	2	EFO	cancer cell line	UACC-257
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005376	"" []	1143370	\N	\N	EFO	3	EFO	cell line	UACC-257
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005376	"" []	2026059	\N	\N	EFO	4	EFO	material entity	UACC-257
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005376	"" []	3178403	\N	\N	EFO	5	EFO	experimental factor	UACC-257
EFO:0005377	\N	\N	"" []	EFO:0005377	"" []	67110	\N	\N	EFO	0	EFO	UACC-62	UACC-62
BTO:0000849	EFO:0005377	\N	"" []	EFO:0005377	"" []	208550	\N	\N	EFO	1	EFO	melanoma cell line	UACC-62
EFO:0001639	BTO:0000849	\N	"" []	EFO:0005377	"" []	561707	\N	\N	EFO	2	EFO	cancer cell line	UACC-62
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005377	"" []	1143371	\N	\N	EFO	3	EFO	cell line	UACC-62
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005377	"" []	2026060	\N	\N	EFO	4	EFO	material entity	UACC-62
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005377	"" []	3178404	\N	\N	EFO	5	EFO	experimental factor	UACC-62
EFO:0005382	\N	\N	"" []	EFO:0005382	"" []	67111	\N	\N	EFO	0	EFO	HepG3	HepG3
EFO:0001641	EFO:0005382	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005382	"" []	208551	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HepG3
EFO:0002888	EFO:0005382	\N	"" []	EFO:0005382	"" []	208552	\N	\N	EFO	1	EFO	Homo sapiens cell line	HepG3
EFO:0005216	EFO:0005382	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0005382	"" []	208553	\N	\N	EFO	1	EFO	hepatoma cell line	HepG3
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005382	"" []	561708	\N	\N	EFO	2	EFO	cell line	HepG3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005382	"" []	561709	\N	\N	EFO	2	EFO	cell line	HepG3
EFO:0001639	EFO:0005216	\N	"" []	EFO:0005382	"" []	561710	\N	\N	EFO	2	EFO	cancer cell line	HepG3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005382	"" []	2026062	\N	\N	EFO	4	EFO	material entity	HepG3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005382	"" []	1143373	\N	\N	EFO	3	EFO	cell line	HepG3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005382	"" []	2999631	\N	\N	EFO	5	EFO	experimental factor	HepG3
EFO:0005383	\N	\N	"" []	EFO:0005383	"" []	67112	\N	\N	EFO	0	EFO	HMEC1	HMEC1
EFO:0001641	EFO:0005383	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005383	"" []	208554	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HMEC1
EFO:0002884	EFO:0005383	\N	"" []	EFO:0005383	"" []	208555	\N	\N	EFO	1	EFO	mammary gland cell line	HMEC1
EFO:0002888	EFO:0005383	\N	"" []	EFO:0005383	"" []	208556	\N	\N	EFO	1	EFO	Homo sapiens cell line	HMEC1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005383	"" []	561711	\N	\N	EFO	2	EFO	cell line	HMEC1
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005383	"" []	561712	\N	\N	EFO	2	EFO	cell line	HMEC1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005383	"" []	561713	\N	\N	EFO	2	EFO	cell line	HMEC1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005383	"" []	1143374	\N	\N	EFO	3	EFO	material entity	HMEC1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005383	"" []	2026063	\N	\N	EFO	4	EFO	experimental factor	HMEC1
EFO:0005384	\N	\N	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." []	EFO:0005384	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." []	67113	\N	\N	EFO	0	EFO	HuH-7	HuH-7
EFO:0001641	EFO:0005384	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005384	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." []	208557	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HuH-7
EFO:0002888	EFO:0005384	\N	"" []	EFO:0005384	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." []	208558	\N	\N	EFO	1	EFO	Homo sapiens cell line	HuH-7
EFO:0005216	EFO:0005384	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0005384	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." []	208559	\N	\N	EFO	1	EFO	hepatoma cell line	HuH-7
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005384	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." []	561714	\N	\N	EFO	2	EFO	cell line	HuH-7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005384	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." []	561715	\N	\N	EFO	2	EFO	cell line	HuH-7
EFO:0001639	EFO:0005216	\N	"" []	EFO:0005384	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." []	561716	\N	\N	EFO	2	EFO	cancer cell line	HuH-7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005384	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." []	2026065	\N	\N	EFO	4	EFO	material entity	HuH-7
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005384	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." []	1143376	\N	\N	EFO	3	EFO	cell line	HuH-7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005384	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." []	2999632	\N	\N	EFO	5	EFO	experimental factor	HuH-7
EFO:0005385	\N	\N	"" []	EFO:0005385	"" []	67114	\N	\N	EFO	0	EFO	IGROV-1	IGROV-1
EFO:0002394	EFO:0005385	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0005385	"" []	208560	\N	\N	EFO	1	EFO	ovarian cancer cell lines	IGROV-1
EFO:0002888	EFO:0005385	\N	"" []	EFO:0005385	"" []	208561	\N	\N	EFO	1	EFO	Homo sapiens cell line	IGROV-1
EFO:0001639	EFO:0002394	\N	"" []	EFO:0005385	"" []	561717	\N	\N	EFO	2	EFO	cancer cell line	IGROV-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005385	"" []	561718	\N	\N	EFO	2	EFO	cell line	IGROV-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005385	"" []	1143377	\N	\N	EFO	3	EFO	cell line	IGROV-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005385	"" []	2026066	\N	\N	EFO	4	EFO	material entity	IGROV-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005385	"" []	2999633	\N	\N	EFO	5	EFO	experimental factor	IGROV-1
EFO:0005386	\N	\N	"" []	EFO:0005386	"" []	67115	\N	\N	EFO	0	EFO	INA-6	INA-6
EFO:0002937	EFO:0005386	\N	"" []	EFO:0005386	"" []	208562	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	INA-6
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005386	"" []	561719	\N	\N	EFO	2	EFO	cancer cell line	INA-6
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005386	"" []	1143379	\N	\N	EFO	3	EFO	cell line	INA-6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005386	"" []	2026068	\N	\N	EFO	4	EFO	material entity	INA-6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005386	"" []	3178405	\N	\N	EFO	5	EFO	experimental factor	INA-6
EFO:0005387	\N	\N	"" []	EFO:0005387	"" []	67116	\N	\N	EFO	0	EFO	JeKo-1	JeKo-1
EFO:0002888	EFO:0005387	\N	"" []	EFO:0005387	"" []	208563	\N	\N	EFO	1	EFO	Homo sapiens cell line	JeKo-1
EFO:0002937	EFO:0005387	\N	"" []	EFO:0005387	"" []	208564	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	JeKo-1
EFO:0005292	EFO:0005387	\N	"" []	EFO:0005387	"" []	208565	\N	\N	EFO	1	EFO	lymphoblastoid cell line	JeKo-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005387	"" []	561720	\N	\N	EFO	2	EFO	cell line	JeKo-1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005387	"" []	561721	\N	\N	EFO	2	EFO	cancer cell line	JeKo-1
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005387	"" []	561722	\N	\N	EFO	2	EFO	cell line	JeKo-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005387	"" []	2026070	\N	\N	EFO	4	EFO	material entity	JeKo-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005387	"" []	1143381	\N	\N	EFO	3	EFO	cell line	JeKo-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005387	"" []	2999634	\N	\N	EFO	5	EFO	experimental factor	JeKo-1
EFO:0005388	\N	\N	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	EFO:0005388	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	67117	\N	\N	EFO	0	EFO	JIMT-1	JIMT-1
EFO:0001641	EFO:0005388	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005388	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	208566	\N	\N	EFO	1	EFO	epithelial cell derived cell line	JIMT-1
EFO:0002884	EFO:0005388	\N	"" []	EFO:0005388	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	208567	\N	\N	EFO	1	EFO	mammary gland cell line	JIMT-1
EFO:0002885	EFO:0005388	\N	"" []	EFO:0005388	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	208568	\N	\N	EFO	1	EFO	breast cancer cell line	JIMT-1
EFO:0002888	EFO:0005388	\N	"" []	EFO:0005388	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	208569	\N	\N	EFO	1	EFO	Homo sapiens cell line	JIMT-1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005388	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	561723	\N	\N	EFO	2	EFO	cell line	JIMT-1
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005388	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	561724	\N	\N	EFO	2	EFO	cell line	JIMT-1
EFO:0001639	EFO:0002885	\N	"" []	EFO:0005388	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	561725	\N	\N	EFO	2	EFO	cancer cell line	JIMT-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005388	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	561726	\N	\N	EFO	2	EFO	cell line	JIMT-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005388	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	2026072	\N	\N	EFO	4	EFO	material entity	JIMT-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005388	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	1143383	\N	\N	EFO	3	EFO	cell line	JIMT-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005388	"Source : Pleural effusion, Ductal breast cancer (grade 3 invasive, T2N1M0)\\nKaryotype : Highly rearranged hyperdiploid karyotype with 6% polyploidy\\nCarry an amplified HER-2 oncogene and to be insensitive to HER-2-inhibiting drugs" []	2999635	\N	\N	EFO	5	EFO	experimental factor	JIMT-1
EFO:0005389	\N	\N	"" []	EFO:0005389	"" []	67118	\N	\N	EFO	0	EFO	KARPAS 231	KARPAS 231
EFO:0001639	EFO:0005389	\N	"" []	EFO:0005389	"" []	208570	\N	\N	EFO	1	EFO	cancer cell line	KARPAS 231
EFO:0002888	EFO:0005389	\N	"" []	EFO:0005389	"" []	208571	\N	\N	EFO	1	EFO	Homo sapiens cell line	KARPAS 231
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005389	"" []	561727	\N	\N	EFO	2	EFO	cell line	KARPAS 231
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005389	"" []	561728	\N	\N	EFO	2	EFO	cell line	KARPAS 231
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005389	"" []	1143384	\N	\N	EFO	3	EFO	material entity	KARPAS 231
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005389	"" []	2026073	\N	\N	EFO	4	EFO	experimental factor	KARPAS 231
EFO:0005390	\N	\N	"" []	EFO:0005390	"" []	67119	\N	\N	EFO	0	EFO	KARPAS 299	KARPAS 299
EFO:0002888	EFO:0005390	\N	"" []	EFO:0005390	"" []	208572	\N	\N	EFO	1	EFO	Homo sapiens cell line	KARPAS 299
EFO:0002937	EFO:0005390	\N	"" []	EFO:0005390	"" []	208573	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	KARPAS 299
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005390	"" []	561729	\N	\N	EFO	2	EFO	cell line	KARPAS 299
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005390	"" []	561730	\N	\N	EFO	2	EFO	cancer cell line	KARPAS 299
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005390	"" []	2026075	\N	\N	EFO	4	EFO	material entity	KARPAS 299
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005390	"" []	1143386	\N	\N	EFO	3	EFO	cell line	KARPAS 299
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005390	"" []	2999636	\N	\N	EFO	5	EFO	experimental factor	KARPAS 299
EFO:0005391	\N	\N	"" []	EFO:0005391	"" []	67120	\N	\N	EFO	0	EFO	LA-N-1	LA-N-1
EFO:0002888	EFO:0005391	\N	"" []	EFO:0005391	"" []	208574	\N	\N	EFO	1	EFO	Homo sapiens cell line	LA-N-1
EFO:0005214	EFO:0005391	\N	"A cell line which is a model for neuroblastoma." []	EFO:0005391	"" []	208575	\N	\N	EFO	1	EFO	neuroblastoma cell line	LA-N-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005391	"" []	561731	\N	\N	EFO	2	EFO	cell line	LA-N-1
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005391	"" []	561732	\N	\N	EFO	2	EFO	cell line	LA-N-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005391	"" []	1143387	\N	\N	EFO	3	EFO	material entity	LA-N-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005391	"" []	2026076	\N	\N	EFO	4	EFO	experimental factor	LA-N-1
EFO:0005392	\N	\N	"" []	EFO:0005392	"" []	67121	\N	\N	EFO	0	EFO	LAPC-4	LAPC-4
EFO:0001639	EFO:0005392	\N	"" []	EFO:0005392	"" []	208576	\N	\N	EFO	1	EFO	cancer cell line	LAPC-4
EFO:0002888	EFO:0005392	\N	"" []	EFO:0005392	"" []	208577	\N	\N	EFO	1	EFO	Homo sapiens cell line	LAPC-4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005392	"" []	561733	\N	\N	EFO	2	EFO	cell line	LAPC-4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005392	"" []	561734	\N	\N	EFO	2	EFO	cell line	LAPC-4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005392	"" []	1143388	\N	\N	EFO	3	EFO	material entity	LAPC-4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005392	"" []	2026077	\N	\N	EFO	4	EFO	experimental factor	LAPC-4
EFO:0005393	\N	\N	"" []	EFO:0005393	"" []	67122	\N	\N	EFO	0	EFO	LAPC-9	LAPC-9
EFO:0002888	EFO:0005393	\N	"" []	EFO:0005393	"" []	208578	\N	\N	EFO	1	EFO	Homo sapiens cell line	LAPC-9
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005393	"" []	561735	\N	\N	EFO	2	EFO	cell line	LAPC-9
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005393	"" []	1143389	\N	\N	EFO	3	EFO	material entity	LAPC-9
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005393	"" []	2026078	\N	\N	EFO	4	EFO	experimental factor	LAPC-9
EFO:0005394	\N	\N	"" []	EFO:0005394	"" []	67123	\N	\N	EFO	0	EFO	MLO-Y4	MLO-Y4
EFO:0002887	EFO:0005394	\N	"Cell lines derived from mice." []	EFO:0005394	"" []	208579	\N	\N	EFO	1	EFO	mouse cell line	MLO-Y4
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005394	"" []	561736	\N	\N	EFO	2	EFO	cell line	MLO-Y4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005394	"" []	1143390	\N	\N	EFO	3	EFO	material entity	MLO-Y4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005394	"" []	2026079	\N	\N	EFO	4	EFO	experimental factor	MLO-Y4
EFO:0005395	\N	\N	"" []	EFO:0005395	"" []	67124	\N	\N	EFO	0	EFO	MUTZ-3	MUTZ-3
EFO:0001641	EFO:0005395	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005395	"" []	208580	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MUTZ-3
EFO:0002884	EFO:0005395	\N	"" []	EFO:0005395	"" []	208581	\N	\N	EFO	1	EFO	mammary gland cell line	MUTZ-3
EFO:0002888	EFO:0005395	\N	"" []	EFO:0005395	"" []	208582	\N	\N	EFO	1	EFO	Homo sapiens cell line	MUTZ-3
EFO:0002937	EFO:0005395	\N	"" []	EFO:0005395	"" []	208583	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	MUTZ-3
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005395	"" []	561737	\N	\N	EFO	2	EFO	cell line	MUTZ-3
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005395	"" []	561738	\N	\N	EFO	2	EFO	cell line	MUTZ-3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005395	"" []	561739	\N	\N	EFO	2	EFO	cell line	MUTZ-3
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005395	"" []	561740	\N	\N	EFO	2	EFO	cancer cell line	MUTZ-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005395	"" []	2026081	\N	\N	EFO	4	EFO	material entity	MUTZ-3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005395	"" []	1143392	\N	\N	EFO	3	EFO	cell line	MUTZ-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005395	"" []	2999637	\N	\N	EFO	5	EFO	experimental factor	MUTZ-3
EFO:0005396	\N	\N	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	67125	\N	\N	EFO	0	EFO	exome sequencing	exome sequencing
EFO:0002770	EFO:0005396	\N	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	208584	\N	\N	EFO	1	EFO	transcription profiling by high throughput sequencing	exome sequencing
EFO:0001032	EFO:0002770	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	561741	\N	\N	EFO	2	EFO	transcription profiling	exome sequencing
EFO:0001457	EFO:0002770	\N	"An assay with input RNA" []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	561742	\N	\N	EFO	2	EFO	RNA assay	exome sequencing
EFO:0002697	EFO:0002770	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	561743	\N	\N	EFO	2	EFO	assay by high throughput sequencer	exome sequencing
EFO:0004120	EFO:0002770	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	561744	\N	\N	EFO	2	EFO	ArrayExpress experiment type	exome sequencing
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	1143393	\N	\N	EFO	3	EFO	experimental process	exome sequencing
EFO:0002772	EFO:0001457	\N	"" []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	1143394	\N	\N	EFO	3	EFO	assay by molecule	exome sequencing
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	1143395	\N	\N	EFO	3	EFO	assay by sequencer	exome sequencing
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	1143396	\N	\N	EFO	3	EFO	experimental process	exome sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	5180994	\N	\N	EFO	7	EFO	planned process	exome sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	2026083	\N	\N	EFO	4	EFO	assay	exome sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	2026084	\N	\N	EFO	4	EFO	assay by instrument	exome sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	5817371	\N	\N	EFO	8	EFO	process	exome sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	4388215	\N	\N	EFO	6	EFO	experimental process	exome sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	3178408	\N	\N	EFO	5	EFO	assay	exome sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005396	"Transcription profiling sequencing process in which targeted exome regions of the genome are sequenced." []	6409749	\N	\N	EFO	9	EFO	experimental factor	exome sequencing
EFO:0005397	\N	\N	"An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." []	EFO:0005397	"An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." []	67126	\N	\N	EFO	0	EFO	high content analysis of cells	high content analysis of cells
EFO:0002694	EFO:0005397	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005397	"An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." []	208585	\N	\N	EFO	1	EFO	experimental process	high content analysis of cells
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005397	"An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." []	561745	\N	\N	EFO	2	EFO	planned process	high content analysis of cells
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005397	"An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." []	1143397	\N	\N	EFO	3	EFO	process	high content analysis of cells
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005397	"An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." []	2026085	\N	\N	EFO	4	EFO	experimental factor	high content analysis of cells
EFO:0005398	\N	\N	"An image analysis technique to characterise the molecular content of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	EFO:0005398	"An image analysis technique to characterise the molecular content of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	67127	\N	\N	EFO	0	EFO	high content analysis of cells by molecular content	high content analysis of cells by molecular content
EFO:0005397	EFO:0005398	\N	"An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." []	EFO:0005398	"An image analysis technique to characterise the molecular content of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	208586	\N	\N	EFO	1	EFO	high content analysis of cells	high content analysis of cells by molecular content
EFO:0002694	EFO:0005397	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005398	"An image analysis technique to characterise the molecular content of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	561746	\N	\N	EFO	2	EFO	experimental process	high content analysis of cells by molecular content
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005398	"An image analysis technique to characterise the molecular content of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	1143398	\N	\N	EFO	3	EFO	planned process	high content analysis of cells by molecular content
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005398	"An image analysis technique to characterise the molecular content of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	2026086	\N	\N	EFO	4	EFO	process	high content analysis of cells by molecular content
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005398	"An image analysis technique to characterise the molecular content of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	3178409	\N	\N	EFO	5	EFO	experimental factor	high content analysis of cells by molecular content
EFO:0005399	\N	\N	"An image analysis technique to characterise the morphological and physical  properties of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	EFO:0005399	"An image analysis technique to characterise the morphological and physical  properties of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	67128	\N	\N	EFO	0	EFO	high content analysis of cells by morphological and physical properties	high content analysis of cells by morphological and physical properties
EFO:0005397	EFO:0005399	\N	"An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." []	EFO:0005399	"An image analysis technique to characterise the morphological and physical  properties of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	208587	\N	\N	EFO	1	EFO	high content analysis of cells	high content analysis of cells by morphological and physical properties
EFO:0002694	EFO:0005397	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005399	"An image analysis technique to characterise the morphological and physical  properties of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	561747	\N	\N	EFO	2	EFO	experimental process	high content analysis of cells by morphological and physical properties
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005399	"An image analysis technique to characterise the morphological and physical  properties of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	1143399	\N	\N	EFO	3	EFO	planned process	high content analysis of cells by morphological and physical properties
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005399	"An image analysis technique to characterise the morphological and physical  properties of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	2026087	\N	\N	EFO	4	EFO	process	high content analysis of cells by morphological and physical properties
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005399	"An image analysis technique to characterise the morphological and physical  properties of cells by combining automated microscopy, robotic handling, and quantitative image analysis." []	3178410	\N	\N	EFO	5	EFO	experimental factor	high content analysis of cells by morphological and physical properties
EFO:0005400	\N	\N	"hair loss as a result of chemotherapy treatment" []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	67129	\N	\N	EFO	0	EFO	chemotherapy-induced alopecia	chemotherapy-induced alopecia
EFO:0000524	EFO:0005400	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	208588	\N	\N	EFO	1	EFO	head disease	chemotherapy-induced alopecia
Orphanet:79364	EFO:0005400	\N	"" []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	208589	\N	\N	EFO	1	EFO	Alopecia	chemotherapy-induced alopecia
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	561748	\N	\N	EFO	2	EFO	disease	chemotherapy-induced alopecia
Orphanet:183450	Orphanet:79364	\N	"" []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	561749	\N	\N	EFO	2	EFO	Genetic hair anomaly	chemotherapy-induced alopecia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	5408806	\N	\N	EFO	7	EFO	disposition	chemotherapy-induced alopecia
Orphanet:183447	Orphanet:183450	\N	"" []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	1143401	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	chemotherapy-induced alopecia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	5801809	\N	\N	EFO	8	EFO	material property	chemotherapy-induced alopecia
Orphanet:68346	Orphanet:183447	\N	"" []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	2026089	\N	\N	EFO	4	EFO	Rare genetic skin disease	chemotherapy-induced alopecia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	6378771	\N	\N	EFO	9	EFO	experimental factor	chemotherapy-induced alopecia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	3178412	\N	\N	EFO	5	EFO	genetic disorder	chemotherapy-induced alopecia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	3178413	\N	\N	EFO	5	EFO	skin disease	chemotherapy-induced alopecia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	4388216	\N	\N	EFO	6	EFO	disease	chemotherapy-induced alopecia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005400	"hair loss as a result of chemotherapy treatment" []	4388217	\N	\N	EFO	6	EFO	disease	chemotherapy-induced alopecia
EFO:0005401	\N	\N	"physiological response of an organism, eg in terms of blood pressure, to being fed a diet high in sodium" []	EFO:0005401	"physiological response of an organism, eg in terms of blood pressure, to being fed a diet high in sodium" []	67130	\N	\N	EFO	0	EFO	response to high sodium diet	response to high sodium diet
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0005401	"physiological response of an organism, eg in terms of blood pressure, to being fed a diet high in sodium" []	194719	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to high sodium diet
EFO:0005402	\N	\N	"physiological response of an organism, eg in terms of blood pressure, to being fed a diet low in sodium" []	EFO:0005402	"physiological response of an organism, eg in terms of blood pressure, to being fed a diet low in sodium" []	67131	\N	\N	EFO	0	EFO	response to low sodium diet	response to low sodium diet
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0005402	"physiological response of an organism, eg in terms of blood pressure, to being fed a diet low in sodium" []	194720	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to low sodium diet
EFO:0005403	\N	\N	"physiological response of an organism to being given potassium as a dietary supplement" []	EFO:0005403	"physiological response of an organism to being given potassium as a dietary supplement" []	67132	\N	\N	EFO	0	EFO	response to dietary potassium supplementation	response to dietary potassium supplementation
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0005403	"physiological response of an organism to being given potassium as a dietary supplement" []	194721	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to dietary potassium supplementation
EFO:0005404	\N	\N	"physiological response, in terms of blood pressure, heart rate or pain, to a cardiovascular test performed by immersing the hand into ice water, usually for one minute " []	EFO:0005404	"physiological response, in terms of blood pressure, heart rate or pain, to a cardiovascular test performed by immersing the hand into ice water, usually for one minute " []	67133	\N	\N	EFO	0	EFO	response to cold pressor test	response to cold pressor test
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0005404	"physiological response, in terms of blood pressure, heart rate or pain, to a cardiovascular test performed by immersing the hand into ice water, usually for one minute " []	194722	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to cold pressor test
EFO:0005405	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antihypertensive drug." []	EFO:0005405	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antihypertensive drug." []	67134	\N	\N	EFO	0	EFO	response to antihypertensive drug	response to antihypertensive drug
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0005405	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antihypertensive drug." []	194723	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to antihypertensive drug
EFO:0005406	\N	\N	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	EFO:0005406	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	67135	\N	\N	EFO	0	EFO	colorectal adenoma	colorectal adenoma
EFO:0000405	EFO:0005406	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005406	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	208590	\N	\N	EFO	1	EFO	digestive system disease	colorectal adenoma
EFO:0004142	EFO:0005406	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:0005406	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	208591	\N	\N	EFO	1	EFO	colorectal neoplasm	colorectal adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005406	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	561750	\N	\N	EFO	2	EFO	disease	colorectal adenoma
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005406	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	561751	\N	\N	EFO	2	EFO	neoplasm	colorectal adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005406	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	2026091	\N	\N	EFO	4	EFO	disposition	colorectal adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005406	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	1143403	\N	\N	EFO	3	EFO	disease	colorectal adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005406	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	2999638	\N	\N	EFO	5	EFO	material property	colorectal adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005406	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	4132677	\N	\N	EFO	6	EFO	experimental factor	colorectal adenoma
EFO:0005407	\N	\N	"A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." []	EFO:0005407	"A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." []	67136	\N	\N	EFO	0	EFO	psychosis	psychosis
EFO:0000677	EFO:0005407	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005407	"A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." []	208592	\N	\N	EFO	1	EFO	mental or behavioural disorder	psychosis
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005407	"A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." []	561752	\N	\N	EFO	2	EFO	brain disease	psychosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005407	"A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." []	1143404	\N	\N	EFO	3	EFO	nervous system disease	psychosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005407	"A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." []	2026092	\N	\N	EFO	4	EFO	disease	psychosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005407	"A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." []	3178415	\N	\N	EFO	5	EFO	disposition	psychosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005407	"A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." []	4388218	\N	\N	EFO	6	EFO	material property	psychosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005407	"A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." []	5408807	\N	\N	EFO	7	EFO	experimental factor	psychosis
EFO:0005408	\N	\N	"the quantification of pyroglutamine, a metabolite significantly associated with increased risk of heart failure" []	EFO:0005408	"the quantification of pyroglutamine, a metabolite significantly associated with increased risk of heart failure" []	67137	\N	\N	EFO	0	EFO	pyroglutamine measurement	pyroglutamine measurement
EFO:0004725	EFO:0005408	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0005408	"the quantification of pyroglutamine, a metabolite significantly associated with increased risk of heart failure" []	208593	\N	\N	EFO	1	EFO	metabolite measurement	pyroglutamine measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005408	"the quantification of pyroglutamine, a metabolite significantly associated with increased risk of heart failure" []	561753	\N	\N	EFO	2	EFO	measurement	pyroglutamine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005408	"the quantification of pyroglutamine, a metabolite significantly associated with increased risk of heart failure" []	1143405	\N	\N	EFO	3	EFO	information entity	pyroglutamine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005408	"the quantification of pyroglutamine, a metabolite significantly associated with increased risk of heart failure" []	2026093	\N	\N	EFO	4	EFO	experimental factor	pyroglutamine measurement
EFO:0005409	\N	\N	"The weight of the individual's body fat." []	EFO:0005409	"The weight of the individual's body fat." []	67138	\N	\N	EFO	0	EFO	fat body mass	fat body mass
EFO:0004302	EFO:0005409	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0005409	"The weight of the individual's body fat." []	208594	\N	\N	EFO	1	EFO	anthropometric measurement	fat body mass
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005409	"The weight of the individual's body fat." []	561754	\N	\N	EFO	2	EFO	measurement	fat body mass
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005409	"The weight of the individual's body fat." []	1143406	\N	\N	EFO	3	EFO	information entity	fat body mass
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005409	"The weight of the individual's body fat." []	2026094	\N	\N	EFO	4	EFO	experimental factor	fat body mass
EFO:0005410	\N	\N	"Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth)." []	EFO:0005410	"Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth)." []	67139	\N	\N	EFO	0	EFO	tooth agenesis	tooth agenesis
EFO:0000524	EFO:0005410	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0005410	"Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth)." []	208595	\N	\N	EFO	1	EFO	head disease	tooth agenesis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005410	"Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth)." []	561755	\N	\N	EFO	2	EFO	disease	tooth agenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005410	"Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth)." []	1143407	\N	\N	EFO	3	EFO	disposition	tooth agenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005410	"Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth)." []	2026095	\N	\N	EFO	4	EFO	material property	tooth agenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005410	"Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth)." []	3178416	\N	\N	EFO	5	EFO	experimental factor	tooth agenesis
EFO:0005411	\N	\N	"A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." []	EFO:0005411	"A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." []	67140	\N	\N	EFO	0	EFO	schizoaffective disorder	schizoaffective disorder
EFO:0000677	EFO:0005411	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005411	"A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." []	208596	\N	\N	EFO	1	EFO	mental or behavioural disorder	schizoaffective disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005411	"A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." []	561756	\N	\N	EFO	2	EFO	brain disease	schizoaffective disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005411	"A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." []	1143408	\N	\N	EFO	3	EFO	nervous system disease	schizoaffective disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005411	"A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." []	2026096	\N	\N	EFO	4	EFO	disease	schizoaffective disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005411	"A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." []	3178417	\N	\N	EFO	5	EFO	disposition	schizoaffective disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005411	"A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." []	4388219	\N	\N	EFO	6	EFO	material property	schizoaffective disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005411	"A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." []	5408808	\N	\N	EFO	7	EFO	experimental factor	schizoaffective disorder
EFO:0005412	\N	\N	"quantification of the effect of persistent interference in daily life activities and role performance by psychiatric conditions or related symptoms, usually established through a combination of medical assessments and questionnaires " []	EFO:0005412	"quantification of the effect of persistent interference in daily life activities and role performance by psychiatric conditions or related symptoms, usually established through a combination of medical assessments and questionnaires " []	67141	\N	\N	EFO	0	EFO	functional impairment measurement	functional impairment measurement
EFO:0006848	EFO:0005412	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0005412	"quantification of the effect of persistent interference in daily life activities and role performance by psychiatric conditions or related symptoms, usually established through a combination of medical assessments and questionnaires " []	208597	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	functional impairment measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005412	"quantification of the effect of persistent interference in daily life activities and role performance by psychiatric conditions or related symptoms, usually established through a combination of medical assessments and questionnaires " []	561757	\N	\N	EFO	2	EFO	measurement	functional impairment measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005412	"quantification of the effect of persistent interference in daily life activities and role performance by psychiatric conditions or related symptoms, usually established through a combination of medical assessments and questionnaires " []	1143409	\N	\N	EFO	3	EFO	information entity	functional impairment measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005412	"quantification of the effect of persistent interference in daily life activities and role performance by psychiatric conditions or related symptoms, usually established through a combination of medical assessments and questionnaires " []	2026097	\N	\N	EFO	4	EFO	experimental factor	functional impairment measurement
EFO:0005413	\N	\N	"quantification of the level of joint damage, eg through radiological analysis" []	EFO:0005413	"quantification of the level of joint damage, eg through radiological analysis" []	67142	\N	\N	EFO	0	EFO	joint damage measurement	joint damage measurement
EFO:0001444	EFO:0005413	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005413	"quantification of the level of joint damage, eg through radiological analysis" []	208598	\N	\N	EFO	1	EFO	measurement	joint damage measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005413	"quantification of the level of joint damage, eg through radiological analysis" []	561758	\N	\N	EFO	2	EFO	information entity	joint damage measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005413	"quantification of the level of joint damage, eg through radiological analysis" []	1143410	\N	\N	EFO	3	EFO	experimental factor	joint damage measurement
EFO:0005414	\N	\N	"one of the primary characteristics of asthma, characterised by easily triggered increased airway smooth muscle contractility" []	EFO:0005414	"one of the primary characteristics of asthma, characterised by easily triggered increased airway smooth muscle contractility" []	67143	\N	\N	EFO	0	EFO	airway hyperresponsiveness	airway hyperresponsiveness
HP:0002086	\N	\N	"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles." [HPO:probinson]	EFO:0005414	"one of the primary characteristics of asthma, characterised by easily triggered increased airway smooth muscle contractility" []	194724	\N	\N	EFO	0	EFO	Abnormality of the respiratory system	airway hyperresponsiveness
EFO:0005415	\N	\N	"quantification of the protease inhibitor alpha-1-antitrypsin in the blood.  The test is used in the diagnosis of early onset emphysema and liver disease." []	EFO:0005415	"quantification of the protease inhibitor alpha-1-antitrypsin in the blood.  The test is used in the diagnosis of early onset emphysema and liver disease." []	67144	\N	\N	EFO	0	EFO	serum alpha-1-antitrypsin measurement	serum alpha-1-antitrypsin measurement
EFO:0004813	EFO:0005415	\N	"Is a quantification of any of the alpha globulin class of proteins, typically in serum." []	EFO:0005415	"quantification of the protease inhibitor alpha-1-antitrypsin in the blood.  The test is used in the diagnosis of early onset emphysema and liver disease." []	208599	\N	\N	EFO	1	EFO	alpha globulin measurement	serum alpha-1-antitrypsin measurement
EFO:0004747	EFO:0004813	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005415	"quantification of the protease inhibitor alpha-1-antitrypsin in the blood.  The test is used in the diagnosis of early onset emphysema and liver disease." []	561759	\N	\N	EFO	2	EFO	protein measurement	serum alpha-1-antitrypsin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005415	"quantification of the protease inhibitor alpha-1-antitrypsin in the blood.  The test is used in the diagnosis of early onset emphysema and liver disease." []	1143411	\N	\N	EFO	3	EFO	measurement	serum alpha-1-antitrypsin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005415	"quantification of the protease inhibitor alpha-1-antitrypsin in the blood.  The test is used in the diagnosis of early onset emphysema and liver disease." []	2026098	\N	\N	EFO	4	EFO	information entity	serum alpha-1-antitrypsin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005415	"quantification of the protease inhibitor alpha-1-antitrypsin in the blood.  The test is used in the diagnosis of early onset emphysema and liver disease." []	3178418	\N	\N	EFO	5	EFO	experimental factor	serum alpha-1-antitrypsin measurement
EFO:0005416	\N	\N	"A soluble ST2 measurement is the quantification of the ST2 protein, also known as Interleukin-1 receptor-like 1 or IL1RL1. The protein  ST2 levels are associated with adverse cardiovascular events." []	EFO:0005416	"A soluble ST2 measurement is the quantification of the ST2 protein, also known as Interleukin-1 receptor-like 1 or IL1RL1. The protein  ST2 levels are associated with adverse cardiovascular events." []	67145	\N	\N	EFO	0	EFO	serum ST2 measurement	serum ST2 measurement
EFO:0004747	EFO:0005416	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005416	"A soluble ST2 measurement is the quantification of the ST2 protein, also known as Interleukin-1 receptor-like 1 or IL1RL1. The protein  ST2 levels are associated with adverse cardiovascular events." []	208600	\N	\N	EFO	1	EFO	protein measurement	serum ST2 measurement
EFO:0005278	EFO:0005416	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005416	"A soluble ST2 measurement is the quantification of the ST2 protein, also known as Interleukin-1 receptor-like 1 or IL1RL1. The protein  ST2 levels are associated with adverse cardiovascular events." []	208601	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	serum ST2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005416	"A soluble ST2 measurement is the quantification of the ST2 protein, also known as Interleukin-1 receptor-like 1 or IL1RL1. The protein  ST2 levels are associated with adverse cardiovascular events." []	561760	\N	\N	EFO	2	EFO	measurement	serum ST2 measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005416	"A soluble ST2 measurement is the quantification of the ST2 protein, also known as Interleukin-1 receptor-like 1 or IL1RL1. The protein  ST2 levels are associated with adverse cardiovascular events." []	561761	\N	\N	EFO	2	EFO	cardiovascular measurement	serum ST2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005416	"A soluble ST2 measurement is the quantification of the ST2 protein, also known as Interleukin-1 receptor-like 1 or IL1RL1. The protein  ST2 levels are associated with adverse cardiovascular events." []	2026100	\N	\N	EFO	4	EFO	information entity	serum ST2 measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005416	"A soluble ST2 measurement is the quantification of the ST2 protein, also known as Interleukin-1 receptor-like 1 or IL1RL1. The protein  ST2 levels are associated with adverse cardiovascular events." []	1143413	\N	\N	EFO	3	EFO	measurement	serum ST2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005416	"A soluble ST2 measurement is the quantification of the ST2 protein, also known as Interleukin-1 receptor-like 1 or IL1RL1. The protein  ST2 levels are associated with adverse cardiovascular events." []	2999639	\N	\N	EFO	5	EFO	experimental factor	serum ST2 measurement
EFO:0005417	\N	\N	"response to treatment with an inhibitor of mTOR (mammalian Target Of Rapamycin), such as everolimus or rapamycin" []	EFO:0005417	"response to treatment with an inhibitor of mTOR (mammalian Target Of Rapamycin), such as everolimus or rapamycin" []	67146	\N	\N	EFO	0	EFO	response to mTOR inhibitor	response to mTOR inhibitor
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0005417	"response to treatment with an inhibitor of mTOR (mammalian Target Of Rapamycin), such as everolimus or rapamycin" []	194725	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to mTOR inhibitor
EFO:0005418	\N	\N	"quantification of symmetric or asymmetric dimethylarginine in the blood" []	EFO:0005418	"quantification of symmetric or asymmetric dimethylarginine in the blood" []	67147	\N	\N	EFO	0	EFO	serum dimethylarginine measurement	serum dimethylarginine measurement
EFO:0001444	EFO:0005418	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005418	"quantification of symmetric or asymmetric dimethylarginine in the blood" []	208602	\N	\N	EFO	1	EFO	measurement	serum dimethylarginine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005418	"quantification of symmetric or asymmetric dimethylarginine in the blood" []	561762	\N	\N	EFO	2	EFO	information entity	serum dimethylarginine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005418	"quantification of symmetric or asymmetric dimethylarginine in the blood" []	1143414	\N	\N	EFO	3	EFO	experimental factor	serum dimethylarginine measurement
EFO:0005419	\N	\N	"quantificiation of ability to detect sharp boundaries (stimuli) and to detect slight changes in luminance at regions without distinct contours. Psychophysical measurements of this visual function are used to evaluate visual acuity and to detect eye disease." []	EFO:0005419	"quantificiation of ability to detect sharp boundaries (stimuli) and to detect slight changes in luminance at regions without distinct contours. Psychophysical measurements of this visual function are used to evaluate visual acuity and to detect eye disease." []	67148	\N	\N	EFO	0	EFO	contrast sensitivity measurement	contrast sensitivity measurement
EFO:0004731	EFO:0005419	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0005419	"quantificiation of ability to detect sharp boundaries (stimuli) and to detect slight changes in luminance at regions without distinct contours. Psychophysical measurements of this visual function are used to evaluate visual acuity and to detect eye disease." []	208603	\N	\N	EFO	1	EFO	eye measurement	contrast sensitivity measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005419	"quantificiation of ability to detect sharp boundaries (stimuli) and to detect slight changes in luminance at regions without distinct contours. Psychophysical measurements of this visual function are used to evaluate visual acuity and to detect eye disease." []	561763	\N	\N	EFO	2	EFO	measurement	contrast sensitivity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005419	"quantificiation of ability to detect sharp boundaries (stimuli) and to detect slight changes in luminance at regions without distinct contours. Psychophysical measurements of this visual function are used to evaluate visual acuity and to detect eye disease." []	1143415	\N	\N	EFO	3	EFO	information entity	contrast sensitivity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005419	"quantificiation of ability to detect sharp boundaries (stimuli) and to detect slight changes in luminance at regions without distinct contours. Psychophysical measurements of this visual function are used to evaluate visual acuity and to detect eye disease." []	2026101	\N	\N	EFO	4	EFO	experimental factor	contrast sensitivity measurement
EFO:0005420	\N	\N	"quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." []	EFO:0005420	"quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." []	67149	\N	\N	EFO	0	EFO	grey matter volume measurement	grey matter volume measurement
EFO:0006848	EFO:0005420	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0005420	"quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." []	208604	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	grey matter volume measurement
EFO:0006930	EFO:0005420	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0005420	"quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." []	208605	\N	\N	EFO	1	EFO	brain volume measurement	grey matter volume measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005420	"quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." []	561764	\N	\N	EFO	2	EFO	measurement	grey matter volume measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0005420	"quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." []	561765	\N	\N	EFO	2	EFO	brain measurement	grey matter volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005420	"quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." []	2026103	\N	\N	EFO	4	EFO	information entity	grey matter volume measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005420	"quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." []	1143417	\N	\N	EFO	3	EFO	measurement	grey matter volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005420	"quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." []	2999640	\N	\N	EFO	5	EFO	experimental factor	grey matter volume measurement
EFO:0005421	\N	\N	"quantification of the amino acid derivate homoarginine in the blood. Low levels are associated with cardiovascular disease risk and for stroke in patients undergoing coronoary angiograpahy and decreased kidney function" []	EFO:0005421	"quantification of the amino acid derivate homoarginine in the blood. Low levels are associated with cardiovascular disease risk and for stroke in patients undergoing coronoary angiograpahy and decreased kidney function" []	67150	\N	\N	EFO	0	EFO	serum homoarginine measurement	serum homoarginine measurement
EFO:0001444	EFO:0005421	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005421	"quantification of the amino acid derivate homoarginine in the blood. Low levels are associated with cardiovascular disease risk and for stroke in patients undergoing coronoary angiograpahy and decreased kidney function" []	208606	\N	\N	EFO	1	EFO	measurement	serum homoarginine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005421	"quantification of the amino acid derivate homoarginine in the blood. Low levels are associated with cardiovascular disease risk and for stroke in patients undergoing coronoary angiograpahy and decreased kidney function" []	561766	\N	\N	EFO	2	EFO	information entity	serum homoarginine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005421	"quantification of the amino acid derivate homoarginine in the blood. Low levels are associated with cardiovascular disease risk and for stroke in patients undergoing coronoary angiograpahy and decreased kidney function" []	1143418	\N	\N	EFO	3	EFO	experimental factor	serum homoarginine measurement
EFO:0005422	\N	\N	"The gradual irreversible changes in structure of skin that occur as a result of the passage of time.. In humans, skin aging can be precipitated as a result of weather and sun exposure, and expresses through the appearance of wrinkles and localised changes in skin pigmentation" []	EFO:0005422	"The gradual irreversible changes in structure of skin that occur as a result of the passage of time.. In humans, skin aging can be precipitated as a result of weather and sun exposure, and expresses through the appearance of wrinkles and localised changes in skin pigmentation" []	67151	\N	\N	EFO	0	EFO	skin aging	skin aging
GO:0007568	\N	\N	"A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700)." [GOC:PO_curators]	EFO:0005422	"The gradual irreversible changes in structure of skin that occur as a result of the passage of time.. In humans, skin aging can be precipitated as a result of weather and sun exposure, and expresses through the appearance of wrinkles and localised changes in skin pigmentation" []	194726	\N	goslim_chembl,goslim_generic	EFO	0	EFO	aging	skin aging
EFO:0005423	\N	\N	"A scoliosis with no known cause arising in adolescent." []	EFO:0005423	"A scoliosis with no known cause arising in adolescent." []	67152	\N	\N	EFO	0	EFO	adolescent idiopathic scoliosis	adolescent idiopathic scoliosis
EFO:0004273	EFO:0005423	\N	"An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)" []	EFO:0005423	"A scoliosis with no known cause arising in adolescent." []	208607	\N	\N	EFO	1	EFO	scoliosis	adolescent idiopathic scoliosis
EFO:0002461	EFO:0004273	\N	"Any disease which affects part of the skeletal system." []	EFO:0005423	"A scoliosis with no known cause arising in adolescent." []	561767	\N	\N	EFO	2	EFO	skeletal system disease	adolescent idiopathic scoliosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005423	"A scoliosis with no known cause arising in adolescent." []	1143419	\N	\N	EFO	3	EFO	disease	adolescent idiopathic scoliosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005423	"A scoliosis with no known cause arising in adolescent." []	2026104	\N	\N	EFO	4	EFO	disposition	adolescent idiopathic scoliosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005423	"A scoliosis with no known cause arising in adolescent." []	3178419	\N	\N	EFO	5	EFO	material property	adolescent idiopathic scoliosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005423	"A scoliosis with no known cause arising in adolescent." []	4388220	\N	\N	EFO	6	EFO	experimental factor	adolescent idiopathic scoliosis
EFO:0005424	\N	\N	"A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." []	EFO:0005424	"A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." []	67153	\N	\N	EFO	0	EFO	dyslexia	dyslexia
EFO:0000677	EFO:0005424	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005424	"A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." []	208608	\N	\N	EFO	1	EFO	mental or behavioural disorder	dyslexia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005424	"A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." []	561768	\N	\N	EFO	2	EFO	brain disease	dyslexia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005424	"A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." []	1143420	\N	\N	EFO	3	EFO	nervous system disease	dyslexia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005424	"A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." []	2026105	\N	\N	EFO	4	EFO	disease	dyslexia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005424	"A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." []	3178420	\N	\N	EFO	5	EFO	disposition	dyslexia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005424	"A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." []	4388221	\N	\N	EFO	6	EFO	material property	dyslexia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005424	"A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." []	5408809	\N	\N	EFO	7	EFO	experimental factor	dyslexia
EFO:0005425	\N	\N	"A communication disorder that involves the processing of linguistic information." []	EFO:0005425	"A communication disorder that involves the processing of linguistic information." []	67154	\N	\N	EFO	0	EFO	language impairment	language impairment
EFO:0000677	EFO:0005425	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005425	"A communication disorder that involves the processing of linguistic information." []	208609	\N	\N	EFO	1	EFO	mental or behavioural disorder	language impairment
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005425	"A communication disorder that involves the processing of linguistic information." []	561769	\N	\N	EFO	2	EFO	brain disease	language impairment
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005425	"A communication disorder that involves the processing of linguistic information." []	1143421	\N	\N	EFO	3	EFO	nervous system disease	language impairment
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005425	"A communication disorder that involves the processing of linguistic information." []	2026106	\N	\N	EFO	4	EFO	disease	language impairment
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005425	"A communication disorder that involves the processing of linguistic information." []	3178421	\N	\N	EFO	5	EFO	disposition	language impairment
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005425	"A communication disorder that involves the processing of linguistic information." []	4388222	\N	\N	EFO	6	EFO	material property	language impairment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005425	"A communication disorder that involves the processing of linguistic information." []	5408810	\N	\N	EFO	7	EFO	experimental factor	language impairment
EFO:0005426	\N	\N	"Symptom associated with autism spectrum disorder such as impairment in verbal and nonverbal communication, social interactions, and/or imaginative play." []	EFO:0005426	"Symptom associated with autism spectrum disorder such as impairment in verbal and nonverbal communication, social interactions, and/or imaginative play." []	67155	\N	\N	EFO	0	EFO	autism spectrum disorder symptom	autism spectrum disorder symptom
HP:0000708	\N	\N	"An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson]	EFO:0005426	"Symptom associated with autism spectrum disorder such as impairment in verbal and nonverbal communication, social interactions, and/or imaginative play." []	194727	\N	\N	EFO	0	EFO	Behavioral abnormality	autism spectrum disorder symptom
EFO:0005427	\N	\N	"Significant problems using verbal and nonverbal communication for social purposes, leading to impairments in their ability to effectively communicate, participate socially, maintain social relationships, or otherwise perform academically or occupationally." []	EFO:0005427	"Significant problems using verbal and nonverbal communication for social purposes, leading to impairments in their ability to effectively communicate, participate socially, maintain social relationships, or otherwise perform academically or occupationally." []	67156	\N	\N	EFO	0	EFO	social communication impairment	social communication impairment
EFO:0005426	EFO:0005427	\N	"Symptom associated with autism spectrum disorder such as impairment in verbal and nonverbal communication, social interactions, and/or imaginative play." []	EFO:0005427	"Significant problems using verbal and nonverbal communication for social purposes, leading to impairments in their ability to effectively communicate, participate socially, maintain social relationships, or otherwise perform academically or occupationally." []	208610	\N	\N	EFO	1	EFO	autism spectrum disorder symptom	social communication impairment
EFO:0005429	\N	\N	"Symptom associated with borderline personality disorder such as unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior" []	EFO:0005429	"Symptom associated with borderline personality disorder such as unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior" []	67157	\N	\N	EFO	0	EFO	borderline personality disorder symptom	borderline personality disorder symptom
EFO:0003765	EFO:0005429	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0005429	"Symptom associated with borderline personality disorder such as unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior" []	208611	\N	\N	EFO	1	EFO	sign or symptom	borderline personality disorder symptom
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0005429	"Symptom associated with borderline personality disorder such as unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior" []	561770	\N	\N	EFO	2	EFO	phenotype	borderline personality disorder symptom
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0005429	"Symptom associated with borderline personality disorder such as unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior" []	1143422	\N	\N	EFO	3	EFO	quality	borderline personality disorder symptom
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005429	"Symptom associated with borderline personality disorder such as unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior" []	2026107	\N	\N	EFO	4	EFO	material property	borderline personality disorder symptom
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005429	"Symptom associated with borderline personality disorder such as unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior" []	3178422	\N	\N	EFO	5	EFO	experimental factor	borderline personality disorder symptom
EFO:0005430	\N	\N	"" []	EFO:0005430	"" []	67158	\N	\N	EFO	0	EFO	nicotine use	nicotine use
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0005430	"" []	194728	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	nicotine use
EFO:0005431	\N	\N	"The consumption of illegal drug such as heroine. Note that some drug like cannabis are illegal in some countries but legal in others." []	EFO:0005431	"The consumption of illegal drug such as heroine. Note that some drug like cannabis are illegal in some countries but legal in others." []	67159	\N	\N	EFO	0	EFO	illegal drug consumption	illegal drug consumption
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0005431	"The consumption of illegal drug such as heroine. Note that some drug like cannabis are illegal in some countries but legal in others." []	194729	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	illegal drug consumption
EFO:0005432	\N	\N	"A disinhibited behaviour non-substance related as opposed to disinhibited behaviour due to alcohol consumption for example." []	EFO:0005432	"A disinhibited behaviour non-substance related as opposed to disinhibited behaviour due to alcohol consumption for example." []	67160	\N	\N	EFO	0	EFO	non-substance related disinhibited behaviour	non-substance related disinhibited behaviour
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0005432	"A disinhibited behaviour non-substance related as opposed to disinhibited behaviour due to alcohol consumption for example." []	194730	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	non-substance related disinhibited behaviour
EFO:0005433	\N	\N	"An array design in which a reporter on an array associated with a BioSequence that has a context dependent predicted signal. e.g. a yeast reporter on a human array, is a control biosequence expected to be of low signal if no spikes are used. If spikes are used, the signal is expected to be high." []	EFO:0005433	"An array design in which a reporter on an array associated with a BioSequence that has a context dependent predicted signal. e.g. a yeast reporter on a human array, is a control biosequence expected to be of low signal if no spikes are used. If spikes are used, the signal is expected to be high." []	67161	\N	\N	EFO	0	EFO	array control biosequence	array control biosequence
EFO:0005440	EFO:0005433	\N	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	EFO:0005433	"An array design in which a reporter on an array associated with a BioSequence that has a context dependent predicted signal. e.g. a yeast reporter on a human array, is a control biosequence expected to be of low signal if no spikes are used. If spikes are used, the signal is expected to be high." []	208612	\N	\N	EFO	1	EFO	array control design	array control biosequence
EFO:0000269	EFO:0005440	\N	"An instrument design which describes the design of the array." []	EFO:0005433	"An array design in which a reporter on an array associated with a BioSequence that has a context dependent predicted signal. e.g. a yeast reporter on a human array, is a control biosequence expected to be of low signal if no spikes are used. If spikes are used, the signal is expected to be high." []	561771	\N	\N	EFO	2	EFO	array design	array control biosequence
EFO:0001451	EFO:0000269	\N	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	EFO:0005433	"An array design in which a reporter on an array associated with a BioSequence that has a context dependent predicted signal. e.g. a yeast reporter on a human array, is a control biosequence expected to be of low signal if no spikes are used. If spikes are used, the signal is expected to be high." []	1143423	\N	\N	EFO	3	EFO	instrument design	array control biosequence
IAO:0000030	EFO:0001451	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005433	"An array design in which a reporter on an array associated with a BioSequence that has a context dependent predicted signal. e.g. a yeast reporter on a human array, is a control biosequence expected to be of low signal if no spikes are used. If spikes are used, the signal is expected to be high." []	2026108	\N	\N	EFO	4	EFO	information entity	array control biosequence
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005433	"An array design in which a reporter on an array associated with a BioSequence that has a context dependent predicted signal. e.g. a yeast reporter on a human array, is a control biosequence expected to be of low signal if no spikes are used. If spikes are used, the signal is expected to be high." []	3178423	\N	\N	EFO	5	EFO	experimental factor	array control biosequence
EFO:0005434	\N	\N	"An array design in which an array contains a reporter where only buffer was deposited on the array, acting as a control." []	EFO:0005434	"An array design in which an array contains a reporter where only buffer was deposited on the array, acting as a control." []	67162	\N	\N	EFO	0	EFO	array control buffer	array control buffer
EFO:0005440	EFO:0005434	\N	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	EFO:0005434	"An array design in which an array contains a reporter where only buffer was deposited on the array, acting as a control." []	208613	\N	\N	EFO	1	EFO	array control design	array control buffer
EFO:0000269	EFO:0005440	\N	"An instrument design which describes the design of the array." []	EFO:0005434	"An array design in which an array contains a reporter where only buffer was deposited on the array, acting as a control." []	561772	\N	\N	EFO	2	EFO	array design	array control buffer
EFO:0001451	EFO:0000269	\N	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	EFO:0005434	"An array design in which an array contains a reporter where only buffer was deposited on the array, acting as a control." []	1143424	\N	\N	EFO	3	EFO	instrument design	array control buffer
IAO:0000030	EFO:0001451	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005434	"An array design in which an array contains a reporter where only buffer was deposited on the array, acting as a control." []	2026109	\N	\N	EFO	4	EFO	information entity	array control buffer
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005434	"An array design in which an array contains a reporter where only buffer was deposited on the array, acting as a control." []	3178424	\N	\N	EFO	5	EFO	experimental factor	array control buffer
EFO:0005435	\N	\N	"An array design in which a reporter on an array has no material or buffer was deposited on the array." []	EFO:0005435	"An array design in which a reporter on an array has no material or buffer was deposited on the array." []	67163	\N	\N	EFO	0	EFO	array control empty	array control empty
EFO:0005440	EFO:0005435	\N	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	EFO:0005435	"An array design in which a reporter on an array has no material or buffer was deposited on the array." []	208614	\N	\N	EFO	1	EFO	array control design	array control empty
EFO:0000269	EFO:0005440	\N	"An instrument design which describes the design of the array." []	EFO:0005435	"An array design in which a reporter on an array has no material or buffer was deposited on the array." []	561773	\N	\N	EFO	2	EFO	array design	array control empty
EFO:0001451	EFO:0000269	\N	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	EFO:0005435	"An array design in which a reporter on an array has no material or buffer was deposited on the array." []	1143425	\N	\N	EFO	3	EFO	instrument design	array control empty
IAO:0000030	EFO:0001451	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005435	"An array design in which a reporter on an array has no material or buffer was deposited on the array." []	2026110	\N	\N	EFO	4	EFO	information entity	array control empty
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005435	"An array design in which a reporter on an array has no material or buffer was deposited on the array." []	3178425	\N	\N	EFO	5	EFO	experimental factor	array control empty
EFO:0005436	\N	\N	"An array design in which a reporter has genomic DNA deposited on it; the genomic DNA may be fragmented, e.g. salmon sperm DNA, Cot1DNA." []	EFO:0005436	"An array design in which a reporter has genomic DNA deposited on it; the genomic DNA may be fragmented, e.g. salmon sperm DNA, Cot1DNA." []	67164	\N	\N	EFO	0	EFO	array control genomic DNA	array control genomic DNA
EFO:0005440	EFO:0005436	\N	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	EFO:0005436	"An array design in which a reporter has genomic DNA deposited on it; the genomic DNA may be fragmented, e.g. salmon sperm DNA, Cot1DNA." []	208615	\N	\N	EFO	1	EFO	array control design	array control genomic DNA
EFO:0000269	EFO:0005440	\N	"An instrument design which describes the design of the array." []	EFO:0005436	"An array design in which a reporter has genomic DNA deposited on it; the genomic DNA may be fragmented, e.g. salmon sperm DNA, Cot1DNA." []	561774	\N	\N	EFO	2	EFO	array design	array control genomic DNA
EFO:0001451	EFO:0000269	\N	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	EFO:0005436	"An array design in which a reporter has genomic DNA deposited on it; the genomic DNA may be fragmented, e.g. salmon sperm DNA, Cot1DNA." []	1143426	\N	\N	EFO	3	EFO	instrument design	array control genomic DNA
IAO:0000030	EFO:0001451	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005436	"An array design in which a reporter has genomic DNA deposited on it; the genomic DNA may be fragmented, e.g. salmon sperm DNA, Cot1DNA." []	2026111	\N	\N	EFO	4	EFO	information entity	array control genomic DNA
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005436	"An array design in which a reporter has genomic DNA deposited on it; the genomic DNA may be fragmented, e.g. salmon sperm DNA, Cot1DNA." []	3178426	\N	\N	EFO	5	EFO	experimental factor	array control genomic DNA
EFO:0005437	\N	\N	"An array design in which a reporter is included that could be used to determine the quality and general performance of the labeled extract. An example is a pool of BioSequences representing widely-expressed genes (i.e., housekeeping genes)." []	EFO:0005437	"An array design in which a reporter is included that could be used to determine the quality and general performance of the labeled extract. An example is a pool of BioSequences representing widely-expressed genes (i.e., housekeeping genes)." []	67165	\N	\N	EFO	0	EFO	array control hybridization quality	array control hybridization quality
EFO:0005440	EFO:0005437	\N	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	EFO:0005437	"An array design in which a reporter is included that could be used to determine the quality and general performance of the labeled extract. An example is a pool of BioSequences representing widely-expressed genes (i.e., housekeeping genes)." []	208616	\N	\N	EFO	1	EFO	array control design	array control hybridization quality
EFO:0000269	EFO:0005440	\N	"An instrument design which describes the design of the array." []	EFO:0005437	"An array design in which a reporter is included that could be used to determine the quality and general performance of the labeled extract. An example is a pool of BioSequences representing widely-expressed genes (i.e., housekeeping genes)." []	561775	\N	\N	EFO	2	EFO	array design	array control hybridization quality
EFO:0001451	EFO:0000269	\N	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	EFO:0005437	"An array design in which a reporter is included that could be used to determine the quality and general performance of the labeled extract. An example is a pool of BioSequences representing widely-expressed genes (i.e., housekeeping genes)." []	1143427	\N	\N	EFO	3	EFO	instrument design	array control hybridization quality
IAO:0000030	EFO:0001451	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005437	"An array design in which a reporter is included that could be used to determine the quality and general performance of the labeled extract. An example is a pool of BioSequences representing widely-expressed genes (i.e., housekeeping genes)." []	2026112	\N	\N	EFO	4	EFO	information entity	array control hybridization quality
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005437	"An array design in which a reporter is included that could be used to determine the quality and general performance of the labeled extract. An example is a pool of BioSequences representing widely-expressed genes (i.e., housekeeping genes)." []	3178427	\N	\N	EFO	5	EFO	experimental factor	array control hybridization quality
EFO:0005438	\N	\N	"An array design in which a reporter is used as a control where some label has been deposited. This includes fluor and radioactively labeled oligos and fluors alone." []	EFO:0005438	"An array design in which a reporter is used as a control where some label has been deposited. This includes fluor and radioactively labeled oligos and fluors alone." []	67166	\N	\N	EFO	0	EFO	array control label	array control label
EFO:0005440	EFO:0005438	\N	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	EFO:0005438	"An array design in which a reporter is used as a control where some label has been deposited. This includes fluor and radioactively labeled oligos and fluors alone." []	208617	\N	\N	EFO	1	EFO	array control design	array control label
EFO:0000269	EFO:0005440	\N	"An instrument design which describes the design of the array." []	EFO:0005438	"An array design in which a reporter is used as a control where some label has been deposited. This includes fluor and radioactively labeled oligos and fluors alone." []	561776	\N	\N	EFO	2	EFO	array design	array control label
EFO:0001451	EFO:0000269	\N	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	EFO:0005438	"An array design in which a reporter is used as a control where some label has been deposited. This includes fluor and radioactively labeled oligos and fluors alone." []	1143428	\N	\N	EFO	3	EFO	instrument design	array control label
IAO:0000030	EFO:0001451	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005438	"An array design in which a reporter is used as a control where some label has been deposited. This includes fluor and radioactively labeled oligos and fluors alone." []	2026113	\N	\N	EFO	4	EFO	information entity	array control label
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005438	"An array design in which a reporter is used as a control where some label has been deposited. This includes fluor and radioactively labeled oligos and fluors alone." []	3178428	\N	\N	EFO	5	EFO	experimental factor	array control label
EFO:0005439	\N	\N	"An array design in which a Reporter is included on an array of whose BioSequence is of known length used as a methodological control for hybridization efficiency.\\n" []	EFO:0005439	"An array design in which a Reporter is included on an array of whose BioSequence is of known length used as a methodological control for hybridization efficiency.\\n" []	67167	\N	\N	EFO	0	EFO	array control reporter size	array control reporter size
EFO:0005440	EFO:0005439	\N	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	EFO:0005439	"An array design in which a Reporter is included on an array of whose BioSequence is of known length used as a methodological control for hybridization efficiency.\\n" []	208618	\N	\N	EFO	1	EFO	array control design	array control reporter size
EFO:0000269	EFO:0005440	\N	"An instrument design which describes the design of the array." []	EFO:0005439	"An array design in which a Reporter is included on an array of whose BioSequence is of known length used as a methodological control for hybridization efficiency.\\n" []	561777	\N	\N	EFO	2	EFO	array design	array control reporter size
EFO:0001451	EFO:0000269	\N	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	EFO:0005439	"An array design in which a Reporter is included on an array of whose BioSequence is of known length used as a methodological control for hybridization efficiency.\\n" []	1143429	\N	\N	EFO	3	EFO	instrument design	array control reporter size
IAO:0000030	EFO:0001451	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005439	"An array design in which a Reporter is included on an array of whose BioSequence is of known length used as a methodological control for hybridization efficiency.\\n" []	2026114	\N	\N	EFO	4	EFO	information entity	array control reporter size
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005439	"An array design in which a Reporter is included on an array of whose BioSequence is of known length used as a methodological control for hybridization efficiency.\\n" []	3178429	\N	\N	EFO	5	EFO	experimental factor	array control reporter size
EFO:0005440	\N	\N	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	EFO:0005440	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	67168	\N	\N	EFO	0	EFO	array control design	array control design
EFO:0000269	EFO:0005440	\N	"An instrument design which describes the design of the array." []	EFO:0005440	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	208619	\N	\N	EFO	1	EFO	array design	array control design
EFO:0001451	EFO:0000269	\N	"An instrument design is information in the form of a specification that describes the setup and design of an instrument." []	EFO:0005440	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	561778	\N	\N	EFO	2	EFO	instrument design	array control design
IAO:0000030	EFO:0001451	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005440	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	1143430	\N	\N	EFO	3	EFO	information entity	array control design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005440	"An array design in which a reporter is used a control for reasons such as quality or result verifcation. " []	2026115	\N	\N	EFO	4	EFO	experimental factor	array control design
EFO:0005441	\N	\N	"" []	EFO:0005441	"" []	67169	\N	\N	EFO	0	EFO	DU 145	DU 145
EFO:0001639	EFO:0005441	\N	"" []	EFO:0005441	"" []	208620	\N	\N	EFO	1	EFO	cancer cell line	DU 145
EFO:0001641	EFO:0005441	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005441	"" []	208621	\N	\N	EFO	1	EFO	epithelial cell derived cell line	DU 145
EFO:0002888	EFO:0005441	\N	"" []	EFO:0005441	"" []	208622	\N	\N	EFO	1	EFO	Homo sapiens cell line	DU 145
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005441	"" []	561779	\N	\N	EFO	2	EFO	cell line	DU 145
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005441	"" []	561780	\N	\N	EFO	2	EFO	cell line	DU 145
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005441	"" []	561781	\N	\N	EFO	2	EFO	cell line	DU 145
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005441	"" []	1143431	\N	\N	EFO	3	EFO	material entity	DU 145
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005441	"" []	2026116	\N	\N	EFO	4	EFO	experimental factor	DU 145
EFO:0005442	\N	\N	"" []	EFO:0005442	"" []	67170	\N	\N	EFO	0	EFO	OVCAR4	OVCAR4
EFO:0002394	EFO:0005442	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0005442	"" []	208623	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVCAR4
EFO:0002888	EFO:0005442	\N	"" []	EFO:0005442	"" []	208624	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVCAR4
EFO:0001639	EFO:0002394	\N	"" []	EFO:0005442	"" []	561782	\N	\N	EFO	2	EFO	cancer cell line	OVCAR4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005442	"" []	561783	\N	\N	EFO	2	EFO	cell line	OVCAR4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005442	"" []	1143432	\N	\N	EFO	3	EFO	cell line	OVCAR4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005442	"" []	2026117	\N	\N	EFO	4	EFO	material entity	OVCAR4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005442	"" []	2999641	\N	\N	EFO	5	EFO	experimental factor	OVCAR4
EFO:0005443	\N	\N	"" []	EFO:0005443	"" []	67171	\N	\N	EFO	0	EFO	OVCAR5	OVCAR5
EFO:0002394	EFO:0005443	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0005443	"" []	208625	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVCAR5
EFO:0002888	EFO:0005443	\N	"" []	EFO:0005443	"" []	208626	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVCAR5
EFO:0001639	EFO:0002394	\N	"" []	EFO:0005443	"" []	561784	\N	\N	EFO	2	EFO	cancer cell line	OVCAR5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005443	"" []	561785	\N	\N	EFO	2	EFO	cell line	OVCAR5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005443	"" []	1143434	\N	\N	EFO	3	EFO	cell line	OVCAR5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005443	"" []	2026119	\N	\N	EFO	4	EFO	material entity	OVCAR5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005443	"" []	2999642	\N	\N	EFO	5	EFO	experimental factor	OVCAR5
EFO:0005444	\N	\N	"" []	EFO:0005444	"" []	67172	\N	\N	EFO	0	EFO	OVCAR8	OVCAR8
EFO:0002394	EFO:0005444	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0005444	"" []	208627	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVCAR8
EFO:0002888	EFO:0005444	\N	"" []	EFO:0005444	"" []	208628	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVCAR8
EFO:0001639	EFO:0002394	\N	"" []	EFO:0005444	"" []	561786	\N	\N	EFO	2	EFO	cancer cell line	OVCAR8
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005444	"" []	561787	\N	\N	EFO	2	EFO	cell line	OVCAR8
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005444	"" []	1143436	\N	\N	EFO	3	EFO	cell line	OVCAR8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005444	"" []	2026121	\N	\N	EFO	4	EFO	material entity	OVCAR8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005444	"" []	2999643	\N	\N	EFO	5	EFO	experimental factor	OVCAR8
EFO:0005445	\N	\N	"PEO1 is an adherent cell line derived from a malignant effusion from the peritoneal ascites of a patient with a poorly differentiated serous adenocarcinoma. The patient previously received cisplatin, 5-fluorouracil and chlorambucil treatment. PEO1 is tumourigenic in immunologically-deprived CBA mice. PEO1 exhibits good growth in semi-solid medium (agar). PEO1 is from the same patient as the PEO4 and PEO6 cell lines (Sigma Catalogue numbers 10032309 & 10032310).This cell line is one of nine from the PE ovarian adenocarcinoma panel (derived from 4 patients at varying stages of ovarian cancer, isolated from various malignant sites, and at various treatment stages) available at ECACC which provides a model system for research into the mechanism of oestrogen action on ovarian adenocarcinoma tumour cells, and for the study of efficacy and toxicity of oestrogen protagonists. (Sigma-Aldrich catalog number 10032308)" []	EFO:0005445	"PEO1 is an adherent cell line derived from a malignant effusion from the peritoneal ascites of a patient with a poorly differentiated serous adenocarcinoma. The patient previously received cisplatin, 5-fluorouracil and chlorambucil treatment. PEO1 is tumourigenic in immunologically-deprived CBA mice. PEO1 exhibits good growth in semi-solid medium (agar). PEO1 is from the same patient as the PEO4 and PEO6 cell lines (Sigma Catalogue numbers 10032309 & 10032310).This cell line is one of nine from the PE ovarian adenocarcinoma panel (derived from 4 patients at varying stages of ovarian cancer, isolated from various malignant sites, and at various treatment stages) available at ECACC which provides a model system for research into the mechanism of oestrogen action on ovarian adenocarcinoma tumour cells, and for the study of efficacy and toxicity of oestrogen protagonists. (Sigma-Aldrich catalog number 10032308)" []	67173	\N	\N	EFO	0	EFO	PEO1	PEO1
EFO:0002394	EFO:0005445	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0005445	"PEO1 is an adherent cell line derived from a malignant effusion from the peritoneal ascites of a patient with a poorly differentiated serous adenocarcinoma. The patient previously received cisplatin, 5-fluorouracil and chlorambucil treatment. PEO1 is tumourigenic in immunologically-deprived CBA mice. PEO1 exhibits good growth in semi-solid medium (agar). PEO1 is from the same patient as the PEO4 and PEO6 cell lines (Sigma Catalogue numbers 10032309 & 10032310).This cell line is one of nine from the PE ovarian adenocarcinoma panel (derived from 4 patients at varying stages of ovarian cancer, isolated from various malignant sites, and at various treatment stages) available at ECACC which provides a model system for research into the mechanism of oestrogen action on ovarian adenocarcinoma tumour cells, and for the study of efficacy and toxicity of oestrogen protagonists. (Sigma-Aldrich catalog number 10032308)" []	208629	\N	\N	EFO	1	EFO	ovarian cancer cell lines	PEO1
EFO:0002888	EFO:0005445	\N	"" []	EFO:0005445	"PEO1 is an adherent cell line derived from a malignant effusion from the peritoneal ascites of a patient with a poorly differentiated serous adenocarcinoma. The patient previously received cisplatin, 5-fluorouracil and chlorambucil treatment. PEO1 is tumourigenic in immunologically-deprived CBA mice. PEO1 exhibits good growth in semi-solid medium (agar). PEO1 is from the same patient as the PEO4 and PEO6 cell lines (Sigma Catalogue numbers 10032309 & 10032310).This cell line is one of nine from the PE ovarian adenocarcinoma panel (derived from 4 patients at varying stages of ovarian cancer, isolated from various malignant sites, and at various treatment stages) available at ECACC which provides a model system for research into the mechanism of oestrogen action on ovarian adenocarcinoma tumour cells, and for the study of efficacy and toxicity of oestrogen protagonists. (Sigma-Aldrich catalog number 10032308)" []	208630	\N	\N	EFO	1	EFO	Homo sapiens cell line	PEO1
EFO:0001639	EFO:0002394	\N	"" []	EFO:0005445	"PEO1 is an adherent cell line derived from a malignant effusion from the peritoneal ascites of a patient with a poorly differentiated serous adenocarcinoma. The patient previously received cisplatin, 5-fluorouracil and chlorambucil treatment. PEO1 is tumourigenic in immunologically-deprived CBA mice. PEO1 exhibits good growth in semi-solid medium (agar). PEO1 is from the same patient as the PEO4 and PEO6 cell lines (Sigma Catalogue numbers 10032309 & 10032310).This cell line is one of nine from the PE ovarian adenocarcinoma panel (derived from 4 patients at varying stages of ovarian cancer, isolated from various malignant sites, and at various treatment stages) available at ECACC which provides a model system for research into the mechanism of oestrogen action on ovarian adenocarcinoma tumour cells, and for the study of efficacy and toxicity of oestrogen protagonists. (Sigma-Aldrich catalog number 10032308)" []	561788	\N	\N	EFO	2	EFO	cancer cell line	PEO1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005445	"PEO1 is an adherent cell line derived from a malignant effusion from the peritoneal ascites of a patient with a poorly differentiated serous adenocarcinoma. The patient previously received cisplatin, 5-fluorouracil and chlorambucil treatment. PEO1 is tumourigenic in immunologically-deprived CBA mice. PEO1 exhibits good growth in semi-solid medium (agar). PEO1 is from the same patient as the PEO4 and PEO6 cell lines (Sigma Catalogue numbers 10032309 & 10032310).This cell line is one of nine from the PE ovarian adenocarcinoma panel (derived from 4 patients at varying stages of ovarian cancer, isolated from various malignant sites, and at various treatment stages) available at ECACC which provides a model system for research into the mechanism of oestrogen action on ovarian adenocarcinoma tumour cells, and for the study of efficacy and toxicity of oestrogen protagonists. (Sigma-Aldrich catalog number 10032308)" []	561789	\N	\N	EFO	2	EFO	cell line	PEO1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005445	"PEO1 is an adherent cell line derived from a malignant effusion from the peritoneal ascites of a patient with a poorly differentiated serous adenocarcinoma. The patient previously received cisplatin, 5-fluorouracil and chlorambucil treatment. PEO1 is tumourigenic in immunologically-deprived CBA mice. PEO1 exhibits good growth in semi-solid medium (agar). PEO1 is from the same patient as the PEO4 and PEO6 cell lines (Sigma Catalogue numbers 10032309 & 10032310).This cell line is one of nine from the PE ovarian adenocarcinoma panel (derived from 4 patients at varying stages of ovarian cancer, isolated from various malignant sites, and at various treatment stages) available at ECACC which provides a model system for research into the mechanism of oestrogen action on ovarian adenocarcinoma tumour cells, and for the study of efficacy and toxicity of oestrogen protagonists. (Sigma-Aldrich catalog number 10032308)" []	1143438	\N	\N	EFO	3	EFO	cell line	PEO1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005445	"PEO1 is an adherent cell line derived from a malignant effusion from the peritoneal ascites of a patient with a poorly differentiated serous adenocarcinoma. The patient previously received cisplatin, 5-fluorouracil and chlorambucil treatment. PEO1 is tumourigenic in immunologically-deprived CBA mice. PEO1 exhibits good growth in semi-solid medium (agar). PEO1 is from the same patient as the PEO4 and PEO6 cell lines (Sigma Catalogue numbers 10032309 & 10032310).This cell line is one of nine from the PE ovarian adenocarcinoma panel (derived from 4 patients at varying stages of ovarian cancer, isolated from various malignant sites, and at various treatment stages) available at ECACC which provides a model system for research into the mechanism of oestrogen action on ovarian adenocarcinoma tumour cells, and for the study of efficacy and toxicity of oestrogen protagonists. (Sigma-Aldrich catalog number 10032308)" []	2026123	\N	\N	EFO	4	EFO	material entity	PEO1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005445	"PEO1 is an adherent cell line derived from a malignant effusion from the peritoneal ascites of a patient with a poorly differentiated serous adenocarcinoma. The patient previously received cisplatin, 5-fluorouracil and chlorambucil treatment. PEO1 is tumourigenic in immunologically-deprived CBA mice. PEO1 exhibits good growth in semi-solid medium (agar). PEO1 is from the same patient as the PEO4 and PEO6 cell lines (Sigma Catalogue numbers 10032309 & 10032310).This cell line is one of nine from the PE ovarian adenocarcinoma panel (derived from 4 patients at varying stages of ovarian cancer, isolated from various malignant sites, and at various treatment stages) available at ECACC which provides a model system for research into the mechanism of oestrogen action on ovarian adenocarcinoma tumour cells, and for the study of efficacy and toxicity of oestrogen protagonists. (Sigma-Aldrich catalog number 10032308)" []	2999644	\N	\N	EFO	5	EFO	experimental factor	PEO1
EFO:0005446	\N	\N	"" []	EFO:0005446	"" []	67174	\N	\N	EFO	0	EFO	PEO14	PEO14
EFO:0002394	EFO:0005446	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0005446	"" []	208631	\N	\N	EFO	1	EFO	ovarian cancer cell lines	PEO14
EFO:0002888	EFO:0005446	\N	"" []	EFO:0005446	"" []	208632	\N	\N	EFO	1	EFO	Homo sapiens cell line	PEO14
EFO:0001639	EFO:0002394	\N	"" []	EFO:0005446	"" []	561790	\N	\N	EFO	2	EFO	cancer cell line	PEO14
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005446	"" []	561791	\N	\N	EFO	2	EFO	cell line	PEO14
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005446	"" []	1143440	\N	\N	EFO	3	EFO	cell line	PEO14
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005446	"" []	2026125	\N	\N	EFO	4	EFO	material entity	PEO14
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005446	"" []	2999645	\N	\N	EFO	5	EFO	experimental factor	PEO14
EFO:0005447	\N	\N	"" []	EFO:0005447	"" []	67175	\N	\N	EFO	0	EFO	PEO23	PEO23
EFO:0002394	EFO:0005447	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0005447	"" []	208633	\N	\N	EFO	1	EFO	ovarian cancer cell lines	PEO23
EFO:0002888	EFO:0005447	\N	"" []	EFO:0005447	"" []	208634	\N	\N	EFO	1	EFO	Homo sapiens cell line	PEO23
EFO:0001639	EFO:0002394	\N	"" []	EFO:0005447	"" []	561792	\N	\N	EFO	2	EFO	cancer cell line	PEO23
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005447	"" []	561793	\N	\N	EFO	2	EFO	cell line	PEO23
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005447	"" []	1143442	\N	\N	EFO	3	EFO	cell line	PEO23
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005447	"" []	2026127	\N	\N	EFO	4	EFO	material entity	PEO23
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005447	"" []	2999646	\N	\N	EFO	5	EFO	experimental factor	PEO23
EFO:0005448	\N	\N	"" []	EFO:0005448	"" []	67176	\N	\N	EFO	0	EFO	PEO4	PEO4
EFO:0002394	EFO:0005448	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0005448	"" []	208635	\N	\N	EFO	1	EFO	ovarian cancer cell lines	PEO4
EFO:0002888	EFO:0005448	\N	"" []	EFO:0005448	"" []	208636	\N	\N	EFO	1	EFO	Homo sapiens cell line	PEO4
EFO:0001639	EFO:0002394	\N	"" []	EFO:0005448	"" []	561794	\N	\N	EFO	2	EFO	cancer cell line	PEO4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005448	"" []	561795	\N	\N	EFO	2	EFO	cell line	PEO4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005448	"" []	1143444	\N	\N	EFO	3	EFO	cell line	PEO4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005448	"" []	2026129	\N	\N	EFO	4	EFO	material entity	PEO4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005448	"" []	2999647	\N	\N	EFO	5	EFO	experimental factor	PEO4
EFO:0005449	\N	\N	"" []	EFO:0005449	"" []	67177	\N	\N	EFO	0	EFO	PEO6	PEO6
EFO:0002394	EFO:0005449	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0005449	"" []	208637	\N	\N	EFO	1	EFO	ovarian cancer cell lines	PEO6
EFO:0002888	EFO:0005449	\N	"" []	EFO:0005449	"" []	208638	\N	\N	EFO	1	EFO	Homo sapiens cell line	PEO6
EFO:0001639	EFO:0002394	\N	"" []	EFO:0005449	"" []	561796	\N	\N	EFO	2	EFO	cancer cell line	PEO6
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005449	"" []	561797	\N	\N	EFO	2	EFO	cell line	PEO6
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005449	"" []	1143446	\N	\N	EFO	3	EFO	cell line	PEO6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005449	"" []	2026131	\N	\N	EFO	4	EFO	material entity	PEO6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005449	"" []	2999648	\N	\N	EFO	5	EFO	experimental factor	PEO6
EFO:0005450	\N	\N	"" []	EFO:0005450	"" []	67178	\N	\N	EFO	0	EFO	SF126	SF126
EFO:0001639	EFO:0005450	\N	"" []	EFO:0005450	"" []	208639	\N	\N	EFO	1	EFO	cancer cell line	SF126
EFO:0002888	EFO:0005450	\N	"" []	EFO:0005450	"" []	208640	\N	\N	EFO	1	EFO	Homo sapiens cell line	SF126
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005450	"" []	561798	\N	\N	EFO	2	EFO	cell line	SF126
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005450	"" []	561799	\N	\N	EFO	2	EFO	cell line	SF126
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005450	"" []	1143448	\N	\N	EFO	3	EFO	material entity	SF126
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005450	"" []	2026133	\N	\N	EFO	4	EFO	experimental factor	SF126
EFO:0005451	\N	\N	"" []	EFO:0005451	"" []	67179	\N	\N	EFO	0	EFO	SF268	SF268
EFO:0001639	EFO:0005451	\N	"" []	EFO:0005451	"" []	208641	\N	\N	EFO	1	EFO	cancer cell line	SF268
EFO:0002888	EFO:0005451	\N	"" []	EFO:0005451	"" []	208642	\N	\N	EFO	1	EFO	Homo sapiens cell line	SF268
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005451	"" []	561800	\N	\N	EFO	2	EFO	cell line	SF268
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005451	"" []	561801	\N	\N	EFO	2	EFO	cell line	SF268
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005451	"" []	1143449	\N	\N	EFO	3	EFO	material entity	SF268
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005451	"" []	2026134	\N	\N	EFO	4	EFO	experimental factor	SF268
EFO:0005452	\N	\N	"" []	EFO:0005452	"" []	67180	\N	\N	EFO	0	EFO	SF295	SF295
EFO:0001639	EFO:0005452	\N	"" []	EFO:0005452	"" []	208643	\N	\N	EFO	1	EFO	cancer cell line	SF295
EFO:0002888	EFO:0005452	\N	"" []	EFO:0005452	"" []	208644	\N	\N	EFO	1	EFO	Homo sapiens cell line	SF295
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005452	"" []	561802	\N	\N	EFO	2	EFO	cell line	SF295
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005452	"" []	561803	\N	\N	EFO	2	EFO	cell line	SF295
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005452	"" []	1143450	\N	\N	EFO	3	EFO	material entity	SF295
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005452	"" []	2026135	\N	\N	EFO	4	EFO	experimental factor	SF295
EFO:0005453	\N	\N	"" []	EFO:0005453	"" []	67181	\N	\N	EFO	0	EFO	SF539	SF539
EFO:0001639	EFO:0005453	\N	"" []	EFO:0005453	"" []	208645	\N	\N	EFO	1	EFO	cancer cell line	SF539
EFO:0002888	EFO:0005453	\N	"" []	EFO:0005453	"" []	208646	\N	\N	EFO	1	EFO	Homo sapiens cell line	SF539
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005453	"" []	561804	\N	\N	EFO	2	EFO	cell line	SF539
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005453	"" []	561805	\N	\N	EFO	2	EFO	cell line	SF539
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005453	"" []	1143451	\N	\N	EFO	3	EFO	material entity	SF539
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005453	"" []	2026136	\N	\N	EFO	4	EFO	experimental factor	SF539
EFO:0005454	\N	\N	"" []	EFO:0005454	"" []	67182	\N	\N	EFO	0	EFO	SHEF-1	SHEF-1
EFO:0002888	EFO:0005454	\N	"" []	EFO:0005454	"" []	208647	\N	\N	EFO	1	EFO	Homo sapiens cell line	SHEF-1
EFO:0003040	EFO:0005454	\N	"" []	EFO:0005454	"" []	208648	\N	\N	EFO	1	EFO	embryonic cell line	SHEF-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005454	"" []	561806	\N	\N	EFO	2	EFO	cell line	SHEF-1
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005454	"" []	561807	\N	\N	EFO	2	EFO	cell line	SHEF-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005454	"" []	1143452	\N	\N	EFO	3	EFO	material entity	SHEF-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005454	"" []	2026137	\N	\N	EFO	4	EFO	experimental factor	SHEF-1
EFO:0005455	\N	\N	"" []	EFO:0005455	"" []	67183	\N	\N	EFO	0	EFO	SHEF-3	SHEF-3
EFO:0002888	EFO:0005455	\N	"" []	EFO:0005455	"" []	208649	\N	\N	EFO	1	EFO	Homo sapiens cell line	SHEF-3
EFO:0003040	EFO:0005455	\N	"" []	EFO:0005455	"" []	208650	\N	\N	EFO	1	EFO	embryonic cell line	SHEF-3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005455	"" []	561808	\N	\N	EFO	2	EFO	cell line	SHEF-3
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005455	"" []	561809	\N	\N	EFO	2	EFO	cell line	SHEF-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005455	"" []	1143453	\N	\N	EFO	3	EFO	material entity	SHEF-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005455	"" []	2026138	\N	\N	EFO	4	EFO	experimental factor	SHEF-3
EFO:0005456	\N	\N	"" []	EFO:0005456	"" []	67184	\N	\N	EFO	0	EFO	SHEP-2	SHEP-2
EFO:0002888	EFO:0005456	\N	"" []	EFO:0005456	"" []	208651	\N	\N	EFO	1	EFO	Homo sapiens cell line	SHEP-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005456	"" []	561810	\N	\N	EFO	2	EFO	cell line	SHEP-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005456	"" []	1143454	\N	\N	EFO	3	EFO	material entity	SHEP-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005456	"" []	2026139	\N	\N	EFO	4	EFO	experimental factor	SHEP-2
EFO:0005457	\N	\N	"" []	EFO:0005457	"" []	67185	\N	\N	EFO	0	EFO	SK-MM-1	SK-MM-1
EFO:0002888	EFO:0005457	\N	"" []	EFO:0005457	"" []	208652	\N	\N	EFO	1	EFO	Homo sapiens cell line	SK-MM-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005457	"" []	561811	\N	\N	EFO	2	EFO	cell line	SK-MM-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005457	"" []	1143455	\N	\N	EFO	3	EFO	material entity	SK-MM-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005457	"" []	2026140	\N	\N	EFO	4	EFO	experimental factor	SK-MM-1
EFO:0005458	\N	\N	"" []	EFO:0005458	"" []	67186	\N	\N	EFO	0	EFO	SK-MM-2	SK-MM-2
EFO:0001639	EFO:0005458	\N	"" []	EFO:0005458	"" []	208653	\N	\N	EFO	1	EFO	cancer cell line	SK-MM-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005458	"" []	561812	\N	\N	EFO	2	EFO	cell line	SK-MM-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005458	"" []	1143456	\N	\N	EFO	3	EFO	material entity	SK-MM-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005458	"" []	2026141	\N	\N	EFO	4	EFO	experimental factor	SK-MM-2
EFO:0005460	\N	\N	"" []	EFO:0005460	"" []	67187	\N	\N	EFO	0	EFO	SKI-DCLC	SKI-DCLC
EFO:0002888	EFO:0005460	\N	"" []	EFO:0005460	"" []	208654	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKI-DCLC
EFO:0002937	EFO:0005460	\N	"" []	EFO:0005460	"" []	208655	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	SKI-DCLC
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005460	"" []	561813	\N	\N	EFO	2	EFO	cell line	SKI-DCLC
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005460	"" []	561814	\N	\N	EFO	2	EFO	cancer cell line	SKI-DCLC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005460	"" []	2026143	\N	\N	EFO	4	EFO	material entity	SKI-DCLC
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005460	"" []	1143458	\N	\N	EFO	3	EFO	cell line	SKI-DCLC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005460	"" []	2999649	\N	\N	EFO	5	EFO	experimental factor	SKI-DCLC
EFO:0005461	\N	\N	"" []	EFO:0005461	"" []	67188	\N	\N	EFO	0	EFO	SUDHL1	SUDHL1
EFO:0001639	EFO:0005461	\N	"" []	EFO:0005461	"" []	208656	\N	\N	EFO	1	EFO	cancer cell line	SUDHL1
EFO:0002888	EFO:0005461	\N	"" []	EFO:0005461	"" []	208657	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUDHL1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005461	"" []	561815	\N	\N	EFO	2	EFO	cell line	SUDHL1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005461	"" []	561816	\N	\N	EFO	2	EFO	cell line	SUDHL1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005461	"" []	1143459	\N	\N	EFO	3	EFO	material entity	SUDHL1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005461	"" []	2026144	\N	\N	EFO	4	EFO	experimental factor	SUDHL1
EFO:0005462	\N	\N	"" []	EFO:0005462	"" []	67189	\N	\N	EFO	0	EFO	SW527	SW527
EFO:0001641	EFO:0005462	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005462	"" []	208658	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SW527
EFO:0002888	EFO:0005462	\N	"" []	EFO:0005462	"" []	208659	\N	\N	EFO	1	EFO	Homo sapiens cell line	SW527
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005462	"" []	561817	\N	\N	EFO	2	EFO	cell line	SW527
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005462	"" []	561818	\N	\N	EFO	2	EFO	cell line	SW527
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005462	"" []	1143460	\N	\N	EFO	3	EFO	material entity	SW527
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005462	"" []	2026145	\N	\N	EFO	4	EFO	experimental factor	SW527
EFO:0005475	\N	\N	"" []	EFO:0005475	"" []	67190	\N	\N	EFO	0	EFO	BL-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	BL-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BTO:0000164	\N	\N	"Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved." []	EFO:0005475	"" []	194731	\N	\N	EFO	0	EFO	Burkitt lymphoma cell	BL-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	EFO:0005475	\N	"" []	EFO:0005475	"" []	208660	\N	\N	EFO	1	EFO	Homo sapiens cell line	BL-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005475	"" []	561819	\N	\N	EFO	2	EFO	cell line	BL-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005475	"" []	1143461	\N	\N	EFO	3	EFO	material entity	BL-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005475	"" []	2026146	\N	\N	EFO	4	EFO	experimental factor	BL-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005476	\N	\N	"" []	EFO:0005476	"" []	67191	\N	\N	EFO	0	EFO	JVM-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	JVM-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	EFO:0005476	\N	"" []	EFO:0005476	"" []	208661	\N	\N	EFO	1	EFO	Homo sapiens cell line	JVM-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002937	EFO:0005476	\N	"" []	EFO:0005476	"" []	208662	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	JVM-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005292	EFO:0005476	\N	"" []	EFO:0005476	"" []	208663	\N	\N	EFO	1	EFO	lymphoblastoid cell line	JVM-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005476	"" []	561820	\N	\N	EFO	2	EFO	cell line	JVM-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005476	"" []	561821	\N	\N	EFO	2	EFO	cancer cell line	JVM-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005476	"" []	561822	\N	\N	EFO	2	EFO	cell line	JVM-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005476	"" []	2026148	\N	\N	EFO	4	EFO	material entity	JVM-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005476	"" []	1143463	\N	\N	EFO	3	EFO	cell line	JVM-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005476	"" []	2999650	\N	\N	EFO	5	EFO	experimental factor	JVM-2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005479	\N	\N	"" []	EFO:0005479	"" []	67192	\N	\N	EFO	0	EFO	Z-138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	Z-138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002888	EFO:0005479	\N	"" []	EFO:0005479	"" []	208664	\N	\N	EFO	1	EFO	Homo sapiens cell line	Z-138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002937	EFO:0005479	\N	"" []	EFO:0005479	"" []	208665	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	Z-138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005292	EFO:0005479	\N	"" []	EFO:0005479	"" []	208666	\N	\N	EFO	1	EFO	lymphoblastoid cell line	Z-138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005479	"" []	561823	\N	\N	EFO	2	EFO	cell line	Z-138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005479	"" []	561824	\N	\N	EFO	2	EFO	cancer cell line	Z-138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005479	"" []	561825	\N	\N	EFO	2	EFO	cell line	Z-138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005479	"" []	2026150	\N	\N	EFO	4	EFO	material entity	Z-138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005479	"" []	1143465	\N	\N	EFO	3	EFO	cell line	Z-138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005479	"" []	2999651	\N	\N	EFO	5	EFO	experimental factor	Z-138 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005480	\N	\N	"This is a mouse suspension cell line derived from MEL cells by stable transfection with a GATA-1-ER fusion protein construct as described by Choe et al., 2003 (Cancer Res 63, 63636369, 2003).  These cells can be terminally differentiated into mature erythroid cells with ?-estradiol treatment, while GATA-1 alone can induce MEL cells to differentiate and to lose their tumorigenic properties. [PMID: 14559825]" []	EFO:0005480	"This is a mouse suspension cell line derived from MEL cells by stable transfection with a GATA-1-ER fusion protein construct as described by Choe et al., 2003 (Cancer Res 63, 63636369, 2003).  These cells can be terminally differentiated into mature erythroid cells with ?-estradiol treatment, while GATA-1 alone can induce MEL cells to differentiate and to lose their tumorigenic properties. [PMID: 14559825]" []	67193	\N	\N	EFO	0	EFO	MEL-GATA-1-ER {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	MEL-GATA-1-ER {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002887	EFO:0005480	\N	"Cell lines derived from mice." []	EFO:0005480	"This is a mouse suspension cell line derived from MEL cells by stable transfection with a GATA-1-ER fusion protein construct as described by Choe et al., 2003 (Cancer Res 63, 63636369, 2003).  These cells can be terminally differentiated into mature erythroid cells with ?-estradiol treatment, while GATA-1 alone can induce MEL cells to differentiate and to lose their tumorigenic properties. [PMID: 14559825]" []	208667	\N	\N	EFO	1	EFO	mouse cell line	MEL-GATA-1-ER {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005480	"This is a mouse suspension cell line derived from MEL cells by stable transfection with a GATA-1-ER fusion protein construct as described by Choe et al., 2003 (Cancer Res 63, 63636369, 2003).  These cells can be terminally differentiated into mature erythroid cells with ?-estradiol treatment, while GATA-1 alone can induce MEL cells to differentiate and to lose their tumorigenic properties. [PMID: 14559825]" []	561826	\N	\N	EFO	2	EFO	cell line	MEL-GATA-1-ER {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005480	"This is a mouse suspension cell line derived from MEL cells by stable transfection with a GATA-1-ER fusion protein construct as described by Choe et al., 2003 (Cancer Res 63, 63636369, 2003).  These cells can be terminally differentiated into mature erythroid cells with ?-estradiol treatment, while GATA-1 alone can induce MEL cells to differentiate and to lose their tumorigenic properties. [PMID: 14559825]" []	1143466	\N	\N	EFO	3	EFO	material entity	MEL-GATA-1-ER {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005480	"This is a mouse suspension cell line derived from MEL cells by stable transfection with a GATA-1-ER fusion protein construct as described by Choe et al., 2003 (Cancer Res 63, 63636369, 2003).  These cells can be terminally differentiated into mature erythroid cells with ?-estradiol treatment, while GATA-1 alone can induce MEL cells to differentiate and to lose their tumorigenic properties. [PMID: 14559825]" []	2026151	\N	\N	EFO	4	EFO	experimental factor	MEL-GATA-1-ER {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005481	\N	\N	"Mouse Embryonic Kidney Fibroblast.  As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line." []	EFO:0005481	"Mouse Embryonic Kidney Fibroblast.  As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line." []	67194	\N	\N	EFO	0	EFO	Patski {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	Patski {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0001643	EFO:0005481	\N	"" []	EFO:0005481	"Mouse Embryonic Kidney Fibroblast.  As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line." []	208668	\N	\N	EFO	1	EFO	kidney derived cell line	Patski {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002009	EFO:0005481	\N	"" []	EFO:0005481	"Mouse Embryonic Kidney Fibroblast.  As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line." []	208669	\N	\N	EFO	1	EFO	fibroblast derived cell line	Patski {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002887	EFO:0005481	\N	"Cell lines derived from mice." []	EFO:0005481	"Mouse Embryonic Kidney Fibroblast.  As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line." []	208670	\N	\N	EFO	1	EFO	mouse cell line	Patski {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005481	"Mouse Embryonic Kidney Fibroblast.  As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line." []	561827	\N	\N	EFO	2	EFO	cell line	Patski {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005481	"Mouse Embryonic Kidney Fibroblast.  As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line." []	561828	\N	\N	EFO	2	EFO	cell line	Patski {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005481	"Mouse Embryonic Kidney Fibroblast.  As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line." []	561829	\N	\N	EFO	2	EFO	cell line	Patski {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005481	"Mouse Embryonic Kidney Fibroblast.  As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line." []	1143467	\N	\N	EFO	3	EFO	material entity	Patski {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005481	"Mouse Embryonic Kidney Fibroblast.  As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line." []	2026152	\N	\N	EFO	4	EFO	experimental factor	Patski {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005482	\N	\N	"Mouse hematopoietic suspension cell line positive for CD34.  The cells have a diploid complement of chromosomes, are non-tumorigenic and bipotential (can be induced to differentiate in vivo into two distinct haematopoietic lineages), and which in appropriate circumstances protect mice from potentially lethal radiation. [PMID: 763330]" []	EFO:0005482	"Mouse hematopoietic suspension cell line positive for CD34.  The cells have a diploid complement of chromosomes, are non-tumorigenic and bipotential (can be induced to differentiate in vivo into two distinct haematopoietic lineages), and which in appropriate circumstances protect mice from potentially lethal radiation. [PMID: 763330]" []	67195	\N	\N	EFO	0	EFO	416B {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	416B {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002887	EFO:0005482	\N	"Cell lines derived from mice." []	EFO:0005482	"Mouse hematopoietic suspension cell line positive for CD34.  The cells have a diploid complement of chromosomes, are non-tumorigenic and bipotential (can be induced to differentiate in vivo into two distinct haematopoietic lineages), and which in appropriate circumstances protect mice from potentially lethal radiation. [PMID: 763330]" []	208671	\N	\N	EFO	1	EFO	mouse cell line	416B {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005482	"Mouse hematopoietic suspension cell line positive for CD34.  The cells have a diploid complement of chromosomes, are non-tumorigenic and bipotential (can be induced to differentiate in vivo into two distinct haematopoietic lineages), and which in appropriate circumstances protect mice from potentially lethal radiation. [PMID: 763330]" []	561830	\N	\N	EFO	2	EFO	cell line	416B {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005482	"Mouse hematopoietic suspension cell line positive for CD34.  The cells have a diploid complement of chromosomes, are non-tumorigenic and bipotential (can be induced to differentiate in vivo into two distinct haematopoietic lineages), and which in appropriate circumstances protect mice from potentially lethal radiation. [PMID: 763330]" []	1143468	\N	\N	EFO	3	EFO	material entity	416B {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005482	"Mouse hematopoietic suspension cell line positive for CD34.  The cells have a diploid complement of chromosomes, are non-tumorigenic and bipotential (can be induced to differentiate in vivo into two distinct haematopoietic lineages), and which in appropriate circumstances protect mice from potentially lethal radiation. [PMID: 763330]" []	2026153	\N	\N	EFO	4	EFO	experimental factor	416B {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005483	\N	\N	"An embryonic cell line isolated from C57BL/6 mouse strain.  Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras." []	EFO:0005483	"An embryonic cell line isolated from C57BL/6 mouse strain.  Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras." []	67196	\N	\N	EFO	0	EFO	ES-Bruce4 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	ES-Bruce4 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002887	EFO:0005483	\N	"Cell lines derived from mice." []	EFO:0005483	"An embryonic cell line isolated from C57BL/6 mouse strain.  Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras." []	208672	\N	\N	EFO	1	EFO	mouse cell line	ES-Bruce4 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0003040	EFO:0005483	\N	"" []	EFO:0005483	"An embryonic cell line isolated from C57BL/6 mouse strain.  Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras." []	208673	\N	\N	EFO	1	EFO	embryonic cell line	ES-Bruce4 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005738	EFO:0005483	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0005483	"An embryonic cell line isolated from C57BL/6 mouse strain.  Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras." []	208674	\N	\N	EFO	1	EFO	ESC derived cell line	ES-Bruce4 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005483	"An embryonic cell line isolated from C57BL/6 mouse strain.  Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras." []	561831	\N	\N	EFO	2	EFO	cell line	ES-Bruce4 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005483	"An embryonic cell line isolated from C57BL/6 mouse strain.  Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras." []	561832	\N	\N	EFO	2	EFO	cell line	ES-Bruce4 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0005483	"An embryonic cell line isolated from C57BL/6 mouse strain.  Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras." []	561833	\N	\N	EFO	2	EFO	stem cell derived cell line	ES-Bruce4 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005483	"An embryonic cell line isolated from C57BL/6 mouse strain.  Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras." []	2026155	\N	\N	EFO	4	EFO	material entity	ES-Bruce4 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005483	"An embryonic cell line isolated from C57BL/6 mouse strain.  Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras." []	1143470	\N	\N	EFO	3	EFO	cell line	ES-Bruce4 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005483	"An embryonic cell line isolated from C57BL/6 mouse strain.  Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras." []	2999652	\N	\N	EFO	5	EFO	experimental factor	ES-Bruce4 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005484	\N	\N	"46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter.  Cells were isolated from the 129a mouse strain. [PMID: 12524553]" []	EFO:0005484	"46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter.  Cells were isolated from the 129a mouse strain. [PMID: 12524553]" []	67197	\N	\N	EFO	0	EFO	46C {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	46C {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002887	EFO:0005484	\N	"Cell lines derived from mice." []	EFO:0005484	"46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter.  Cells were isolated from the 129a mouse strain. [PMID: 12524553]" []	208675	\N	\N	EFO	1	EFO	mouse cell line	46C {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0003040	EFO:0005484	\N	"" []	EFO:0005484	"46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter.  Cells were isolated from the 129a mouse strain. [PMID: 12524553]" []	208676	\N	\N	EFO	1	EFO	embryonic cell line	46C {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005484	"46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter.  Cells were isolated from the 129a mouse strain. [PMID: 12524553]" []	561834	\N	\N	EFO	2	EFO	cell line	46C {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005484	"46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter.  Cells were isolated from the 129a mouse strain. [PMID: 12524553]" []	561835	\N	\N	EFO	2	EFO	cell line	46C {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005484	"46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter.  Cells were isolated from the 129a mouse strain. [PMID: 12524553]" []	1143471	\N	\N	EFO	3	EFO	material entity	46C {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005484	"46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter.  Cells were isolated from the 129a mouse strain. [PMID: 12524553]" []	2026156	\N	\N	EFO	4	EFO	experimental factor	46C {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005485	\N	\N	"ES-cells isolated from C57BL/6xCBA" []	EFO:0005485	"ES-cells isolated from C57BL/6xCBA" []	67198	\N	\N	EFO	0	EFO	TT2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	TT2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002887	EFO:0005485	\N	"Cell lines derived from mice." []	EFO:0005485	"ES-cells isolated from C57BL/6xCBA" []	208677	\N	\N	EFO	1	EFO	mouse cell line	TT2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0003040	EFO:0005485	\N	"" []	EFO:0005485	"ES-cells isolated from C57BL/6xCBA" []	208678	\N	\N	EFO	1	EFO	embryonic cell line	TT2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005738	EFO:0005485	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0005485	"ES-cells isolated from C57BL/6xCBA" []	208679	\N	\N	EFO	1	EFO	ESC derived cell line	TT2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005485	"ES-cells isolated from C57BL/6xCBA" []	561836	\N	\N	EFO	2	EFO	cell line	TT2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005485	"ES-cells isolated from C57BL/6xCBA" []	561837	\N	\N	EFO	2	EFO	cell line	TT2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0005485	"ES-cells isolated from C57BL/6xCBA" []	561838	\N	\N	EFO	2	EFO	stem cell derived cell line	TT2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005485	"ES-cells isolated from C57BL/6xCBA" []	2026158	\N	\N	EFO	4	EFO	material entity	TT2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005485	"ES-cells isolated from C57BL/6xCBA" []	1143473	\N	\N	EFO	3	EFO	cell line	TT2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005485	"ES-cells isolated from C57BL/6xCBA" []	2999653	\N	\N	EFO	5	EFO	experimental factor	TT2 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005486	\N	\N	"Fetal myoblast Desmin+" []	EFO:0005486	"Fetal myoblast Desmin+" []	67199	\N	\N	EFO	0	EFO	J185a {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}	J185a {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BTO:0000256	\N	\N	"Cell lines derived from myoblast cells" []	EFO:0005486	"Fetal myoblast Desmin+" []	194732	\N	\N	EFO	0	EFO	myoblast cell line	J185a {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0002887	EFO:0005486	\N	"Cell lines derived from mice." []	EFO:0005486	"Fetal myoblast Desmin+" []	208680	\N	\N	EFO	1	EFO	mouse cell line	J185a {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0003040	EFO:0005486	\N	"" []	EFO:0005486	"Fetal myoblast Desmin+" []	208681	\N	\N	EFO	1	EFO	embryonic cell line	J185a {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005486	"Fetal myoblast Desmin+" []	561839	\N	\N	EFO	2	EFO	cell line	J185a {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005486	"Fetal myoblast Desmin+" []	561840	\N	\N	EFO	2	EFO	cell line	J185a {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005486	"Fetal myoblast Desmin+" []	1143474	\N	\N	EFO	3	EFO	material entity	J185a {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005486	"Fetal myoblast Desmin+" []	2026159	\N	\N	EFO	4	EFO	experimental factor	J185a {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
EFO:0005487	\N	\N	"" []	EFO:0005487	"" []	67200	\N	\N	EFO	0	EFO	DZ685	DZ685
NCBITaxon:6239	\N	\N	"" []	EFO:0005487	"" []	194733	\N	\N	EFO	0	EFO	Caenorhabditis elegans	DZ685
EFO:0005488	\N	\N	"" []	EFO:0005488	"" []	67201	\N	\N	EFO	0	EFO	NW1229	NW1229
NCBITaxon:6239	\N	\N	"" []	EFO:0005488	"" []	194734	\N	\N	EFO	0	EFO	Caenorhabditis elegans	NW1229
EFO:0005489	\N	\N	"" []	EFO:0005489	"" []	67202	\N	\N	EFO	0	EFO	LX837	LX837
NCBITaxon:6239	\N	\N	"" []	EFO:0005489	"" []	194735	\N	\N	EFO	0	EFO	Caenorhabditis elegans	LX837
EFO:0005490	\N	\N	"" []	EFO:0005490	"" []	67203	\N	\N	EFO	0	EFO	BA671	BA671
NCBITaxon:6239	\N	\N	"" []	EFO:0005490	"" []	194736	\N	\N	EFO	0	EFO	Caenorhabditis elegans	BA671
EFO:0005491	\N	\N	"" []	EFO:0005491	"" []	67204	\N	\N	EFO	0	EFO	CB1489	CB1489
NCBITaxon:6239	\N	\N	"" []	EFO:0005491	"" []	194737	\N	\N	EFO	0	EFO	Caenorhabditis elegans	CB1489
EFO:0005492	\N	\N	"" []	EFO:0005492	"" []	67205	\N	\N	EFO	0	EFO	JK1107	JK1107
NCBITaxon:6239	\N	\N	"" []	EFO:0005492	"" []	194738	\N	\N	EFO	0	EFO	Caenorhabditis elegans	JK1107
EFO:0005493	\N	\N	"" []	EFO:0005493	"" []	67206	\N	\N	EFO	0	EFO	MT10430	MT10430
NCBITaxon:6239	\N	\N	"" []	EFO:0005493	"" []	194739	\N	\N	EFO	0	EFO	Caenorhabditis elegans	MT10430
EFO:0005495	\N	\N	"Neuron class of two pharyngeal neurosecretory-motor neurons." []	EFO:0005495	"Neuron class of two pharyngeal neurosecretory-motor neurons." []	67207	\N	\N	EFO	0	EFO	NSM	NSM
CL:0000165	EFO:0005495	\N	"Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. In this way they bring about and integration between the nervous system and the endocrine system, a process known as neuroendocrine integration. An example of a neuroendocrine cell is the cell of the adrenal medulla (innermost part of the adrenal gland) which releases adrenalin to the blood. The adrenal medullary cells are controlled by the sympathetic division of the autonomic nervous system. These cells are modified postganglionic neurons. Autonomic nerve fibers lead directly to them from the central nervous system. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood. Some of these these factors, release at the median eminence, control the secretion of pituitary hormones, while others (the hormones oxytocin and vasopressin) are released directly to the peripheral circulation." []	EFO:0005495	"Neuron class of two pharyngeal neurosecretory-motor neurons." []	208682	\N	\N	EFO	1	EFO	neuroendocrine cell	NSM
EFO:0000324	CL:0000165	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0005495	"Neuron class of two pharyngeal neurosecretory-motor neurons." []	561841	\N	\N	EFO	2	EFO	cell type	NSM
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005495	"Neuron class of two pharyngeal neurosecretory-motor neurons." []	1143475	\N	\N	EFO	3	EFO	material entity	NSM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005495	"Neuron class of two pharyngeal neurosecretory-motor neurons." []	2026160	\N	\N	EFO	4	EFO	experimental factor	NSM
EFO:0005496	\N	\N	"" []	EFO:0005496	"" []	67208	\N	\N	EFO	0	EFO	Caenorhabditis component	Caenorhabditis component
EFO:0000787	EFO:0005496	\N	"" []	EFO:0005496	"" []	208683	\N	\N	EFO	1	EFO	animal component	Caenorhabditis component
EFO:0000786	EFO:0000787	\N	"" []	EFO:0005496	"" []	561842	\N	\N	EFO	2	EFO	anatomy basic component	Caenorhabditis component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0005496	"" []	1143476	\N	\N	EFO	3	EFO	organism part	Caenorhabditis component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005496	"" []	2026161	\N	\N	EFO	4	EFO	material entity	Caenorhabditis component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005496	"" []	3178430	\N	\N	EFO	5	EFO	experimental factor	Caenorhabditis component
EFO:0005497	\N	\N	"type of cells that make up muscle layers in the pharynx in worms such as C. elegans" []	EFO:0005497	"type of cells that make up muscle layers in the pharynx in worms such as C. elegans" []	67209	\N	\N	EFO	0	EFO	pharyngeal muscle cell	pharyngeal muscle cell
CL:0000187	EFO:0005497	\N	"Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH)." []	EFO:0005497	"type of cells that make up muscle layers in the pharynx in worms such as C. elegans" []	208684	\N	\N	EFO	1	EFO	muscle cell	pharyngeal muscle cell
EFO:0002956	CL:0000187	\N	"" []	EFO:0005497	"type of cells that make up muscle layers in the pharynx in worms such as C. elegans" []	561843	\N	\N	EFO	2	EFO	musculo-skeletal system cell	pharyngeal muscle cell
EFO:0000324	EFO:0002956	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0005497	"type of cells that make up muscle layers in the pharynx in worms such as C. elegans" []	1143477	\N	\N	EFO	3	EFO	cell type	pharyngeal muscle cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005497	"type of cells that make up muscle layers in the pharynx in worms such as C. elegans" []	2026162	\N	\N	EFO	4	EFO	material entity	pharyngeal muscle cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005497	"type of cells that make up muscle layers in the pharynx in worms such as C. elegans" []	3178431	\N	\N	EFO	5	EFO	experimental factor	pharyngeal muscle cell
EFO:0005498	\N	\N	"C. elegans at 20 Centigrade: 0-24 hours after L4-adult molt" []	EFO:0005498	"C. elegans at 20 Centigrade: 0-24 hours after L4-adult molt" []	67210	\N	\N	EFO	0	EFO	newly molted young adult hermaphrodite	newly molted young adult hermaphrodite
EFO:0001272	EFO:0005498	\N	"A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth" []	EFO:0005498	"C. elegans at 20 Centigrade: 0-24 hours after L4-adult molt" []	208685	\N	\N	EFO	1	EFO	adult	newly molted young adult hermaphrodite
EFO:0000399	EFO:0001272	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005498	"C. elegans at 20 Centigrade: 0-24 hours after L4-adult molt" []	561844	\N	\N	EFO	2	EFO	developmental stage	newly molted young adult hermaphrodite
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005498	"C. elegans at 20 Centigrade: 0-24 hours after L4-adult molt" []	1143478	\N	\N	EFO	3	EFO	process	newly molted young adult hermaphrodite
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005498	"C. elegans at 20 Centigrade: 0-24 hours after L4-adult molt" []	2026163	\N	\N	EFO	4	EFO	experimental factor	newly molted young adult hermaphrodite
EFO:0005499	\N	\N	"C. elegans 520-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The shape of embryo is elongated and tripple fold. A stage between 2-fold embryo and fully-elongated embryo. Also called pretzel embryo or pretzel stage. " []	EFO:0005499	"C. elegans 520-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The shape of embryo is elongated and tripple fold. A stage between 2-fold embryo and fully-elongated embryo. Also called pretzel embryo or pretzel stage. " []	67211	\N	\N	EFO	0	EFO	3-fold embryo Ce	3-fold embryo Ce
EFO:0005858	EFO:0005499	\N	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	EFO:0005499	"C. elegans 520-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The shape of embryo is elongated and tripple fold. A stage between 2-fold embryo and fully-elongated embryo. Also called pretzel embryo or pretzel stage. " []	208686	\N	\N	EFO	1	EFO	C. elegans embryo stage	3-fold embryo Ce
EFO:0007725	EFO:0005858	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005499	"C. elegans 520-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The shape of embryo is elongated and tripple fold. A stage between 2-fold embryo and fully-elongated embryo. Also called pretzel embryo or pretzel stage. " []	561845	\N	\N	EFO	2	EFO	embryo stage	3-fold embryo Ce
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005499	"C. elegans 520-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The shape of embryo is elongated and tripple fold. A stage between 2-fold embryo and fully-elongated embryo. Also called pretzel embryo or pretzel stage. " []	1143479	\N	\N	EFO	3	EFO	developmental stage	3-fold embryo Ce
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005499	"C. elegans 520-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The shape of embryo is elongated and tripple fold. A stage between 2-fold embryo and fully-elongated embryo. Also called pretzel embryo or pretzel stage. " []	2026164	\N	\N	EFO	4	EFO	process	3-fold embryo Ce
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005499	"C. elegans 520-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The shape of embryo is elongated and tripple fold. A stage between 2-fold embryo and fully-elongated embryo. Also called pretzel embryo or pretzel stage. " []	3178432	\N	\N	EFO	5	EFO	experimental factor	3-fold embryo Ce
EFO:0005500	\N	\N	"C. elegans 20-40min after first cleavage at 20 Centigrade. Contains 4 cells." []	EFO:0005500	"C. elegans 20-40min after first cleavage at 20 Centigrade. Contains 4 cells." []	67212	\N	\N	EFO	0	EFO	4-cell embryo Ce	4-cell embryo Ce
EFO:0005858	EFO:0005500	\N	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	EFO:0005500	"C. elegans 20-40min after first cleavage at 20 Centigrade. Contains 4 cells." []	208687	\N	\N	EFO	1	EFO	C. elegans embryo stage	4-cell embryo Ce
EFO:0007725	EFO:0005858	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005500	"C. elegans 20-40min after first cleavage at 20 Centigrade. Contains 4 cells." []	561846	\N	\N	EFO	2	EFO	embryo stage	4-cell embryo Ce
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005500	"C. elegans 20-40min after first cleavage at 20 Centigrade. Contains 4 cells." []	1143480	\N	\N	EFO	3	EFO	developmental stage	4-cell embryo Ce
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005500	"C. elegans 20-40min after first cleavage at 20 Centigrade. Contains 4 cells." []	2026165	\N	\N	EFO	4	EFO	process	4-cell embryo Ce
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005500	"C. elegans 20-40min after first cleavage at 20 Centigrade. Contains 4 cells." []	3178433	\N	\N	EFO	5	EFO	experimental factor	4-cell embryo Ce
EFO:0005501	\N	\N	"C. elegans 0-350min after first cleavage at 20 Centigrade. Proliferate from 1 cell to 560 cells. From start of first cleavage till cleavage is over." []	EFO:0005501	"C. elegans 0-350min after first cleavage at 20 Centigrade. Proliferate from 1 cell to 560 cells. From start of first cleavage till cleavage is over." []	67213	\N	\N	EFO	0	EFO	proliferating embryo Ce	proliferating embryo Ce
EFO:0005858	EFO:0005501	\N	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	EFO:0005501	"C. elegans 0-350min after first cleavage at 20 Centigrade. Proliferate from 1 cell to 560 cells. From start of first cleavage till cleavage is over." []	208688	\N	\N	EFO	1	EFO	C. elegans embryo stage	proliferating embryo Ce
EFO:0007725	EFO:0005858	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005501	"C. elegans 0-350min after first cleavage at 20 Centigrade. Proliferate from 1 cell to 560 cells. From start of first cleavage till cleavage is over." []	561847	\N	\N	EFO	2	EFO	embryo stage	proliferating embryo Ce
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005501	"C. elegans 0-350min after first cleavage at 20 Centigrade. Proliferate from 1 cell to 560 cells. From start of first cleavage till cleavage is over." []	1143481	\N	\N	EFO	3	EFO	developmental stage	proliferating embryo Ce
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005501	"C. elegans 0-350min after first cleavage at 20 Centigrade. Proliferate from 1 cell to 560 cells. From start of first cleavage till cleavage is over." []	2026166	\N	\N	EFO	4	EFO	process	proliferating embryo Ce
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005501	"C. elegans 0-350min after first cleavage at 20 Centigrade. Proliferate from 1 cell to 560 cells. From start of first cleavage till cleavage is over." []	3178434	\N	\N	EFO	5	EFO	experimental factor	proliferating embryo Ce
EFO:0005502	\N	\N	"C. elegans 210-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage before the fast cleavage of cells finishes." []	EFO:0005502	"C. elegans 210-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage before the fast cleavage of cells finishes." []	67214	\N	\N	EFO	0	EFO	late cleavage stage embryo Ce	late cleavage stage embryo Ce
EFO:0005501	EFO:0005502	\N	"C. elegans 0-350min after first cleavage at 20 Centigrade. Proliferate from 1 cell to 560 cells. From start of first cleavage till cleavage is over." []	EFO:0005502	"C. elegans 210-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage before the fast cleavage of cells finishes." []	208689	\N	\N	EFO	1	EFO	proliferating embryo Ce	late cleavage stage embryo Ce
EFO:0005858	EFO:0005501	\N	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	EFO:0005502	"C. elegans 210-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage before the fast cleavage of cells finishes." []	561848	\N	\N	EFO	2	EFO	C. elegans embryo stage	late cleavage stage embryo Ce
EFO:0007725	EFO:0005858	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005502	"C. elegans 210-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage before the fast cleavage of cells finishes." []	1143482	\N	\N	EFO	3	EFO	embryo stage	late cleavage stage embryo Ce
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005502	"C. elegans 210-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage before the fast cleavage of cells finishes." []	2026167	\N	\N	EFO	4	EFO	developmental stage	late cleavage stage embryo Ce
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005502	"C. elegans 210-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage before the fast cleavage of cells finishes." []	3178435	\N	\N	EFO	5	EFO	process	late cleavage stage embryo Ce
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005502	"C. elegans 210-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage before the fast cleavage of cells finishes." []	4388223	\N	\N	EFO	6	EFO	experimental factor	late cleavage stage embryo Ce
EFO:0005503	\N	\N	"C. elegans 100-290min after first cleavage at 20 Centigrade. Proliferate from 28 cells to 421 cells. Referring to the whole period of gastrulation." []	EFO:0005503	"C. elegans 100-290min after first cleavage at 20 Centigrade. Proliferate from 28 cells to 421 cells. Referring to the whole period of gastrulation." []	67215	\N	\N	EFO	0	EFO	gastrulating embryo Ce	gastrulating embryo Ce
EFO:0005501	EFO:0005503	\N	"C. elegans 0-350min after first cleavage at 20 Centigrade. Proliferate from 1 cell to 560 cells. From start of first cleavage till cleavage is over." []	EFO:0005503	"C. elegans 100-290min after first cleavage at 20 Centigrade. Proliferate from 28 cells to 421 cells. Referring to the whole period of gastrulation." []	208690	\N	\N	EFO	1	EFO	proliferating embryo Ce	gastrulating embryo Ce
EFO:0005858	EFO:0005501	\N	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	EFO:0005503	"C. elegans 100-290min after first cleavage at 20 Centigrade. Proliferate from 28 cells to 421 cells. Referring to the whole period of gastrulation." []	561849	\N	\N	EFO	2	EFO	C. elegans embryo stage	gastrulating embryo Ce
EFO:0007725	EFO:0005858	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005503	"C. elegans 100-290min after first cleavage at 20 Centigrade. Proliferate from 28 cells to 421 cells. Referring to the whole period of gastrulation." []	1143483	\N	\N	EFO	3	EFO	embryo stage	gastrulating embryo Ce
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005503	"C. elegans 100-290min after first cleavage at 20 Centigrade. Proliferate from 28 cells to 421 cells. Referring to the whole period of gastrulation." []	2026168	\N	\N	EFO	4	EFO	developmental stage	gastrulating embryo Ce
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005503	"C. elegans 100-290min after first cleavage at 20 Centigrade. Proliferate from 28 cells to 421 cells. Referring to the whole period of gastrulation." []	3178436	\N	\N	EFO	5	EFO	process	gastrulating embryo Ce
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005503	"C. elegans 100-290min after first cleavage at 20 Centigrade. Proliferate from 28 cells to 421 cells. Referring to the whole period of gastrulation." []	4388224	\N	\N	EFO	6	EFO	experimental factor	gastrulating embryo Ce
EFO:0005504	\N	\N	"C. elegans 620-800min(hatch) after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. A stage after elongation is over. The last stage of embryogenesis. Also called pre-hatched embryo, late embryo or morphogenetic embryo." []	EFO:0005504	"C. elegans 620-800min(hatch) after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. A stage after elongation is over. The last stage of embryogenesis. Also called pre-hatched embryo, late embryo or morphogenetic embryo." []	67216	\N	\N	EFO	0	EFO	fully-elongated embryo Ce	fully-elongated embryo Ce
EFO:0005858	EFO:0005504	\N	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	EFO:0005504	"C. elegans 620-800min(hatch) after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. A stage after elongation is over. The last stage of embryogenesis. Also called pre-hatched embryo, late embryo or morphogenetic embryo." []	208691	\N	\N	EFO	1	EFO	C. elegans embryo stage	fully-elongated embryo Ce
EFO:0007725	EFO:0005858	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005504	"C. elegans 620-800min(hatch) after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. A stage after elongation is over. The last stage of embryogenesis. Also called pre-hatched embryo, late embryo or morphogenetic embryo." []	561850	\N	\N	EFO	2	EFO	embryo stage	fully-elongated embryo Ce
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005504	"C. elegans 620-800min(hatch) after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. A stage after elongation is over. The last stage of embryogenesis. Also called pre-hatched embryo, late embryo or morphogenetic embryo." []	1143484	\N	\N	EFO	3	EFO	developmental stage	fully-elongated embryo Ce
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005504	"C. elegans 620-800min(hatch) after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. A stage after elongation is over. The last stage of embryogenesis. Also called pre-hatched embryo, late embryo or morphogenetic embryo." []	2026169	\N	\N	EFO	4	EFO	process	fully-elongated embryo Ce
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005504	"C. elegans 620-800min(hatch) after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. A stage after elongation is over. The last stage of embryogenesis. Also called pre-hatched embryo, late embryo or morphogenetic embryo." []	3178437	\N	\N	EFO	5	EFO	experimental factor	fully-elongated embryo Ce
EFO:0005505	\N	\N	"C. elegans 290-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage when embryo just finished gastulation and is enclosing." []	EFO:0005505	"C. elegans 290-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage when embryo just finished gastulation and is enclosing." []	67217	\N	\N	EFO	0	EFO	enclosing embryo Ce	enclosing embryo Ce
EFO:0005502	EFO:0005505	\N	"C. elegans 210-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage before the fast cleavage of cells finishes." []	EFO:0005505	"C. elegans 290-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage when embryo just finished gastulation and is enclosing." []	208692	\N	\N	EFO	1	EFO	late cleavage stage embryo Ce	enclosing embryo Ce
EFO:0005501	EFO:0005502	\N	"C. elegans 0-350min after first cleavage at 20 Centigrade. Proliferate from 1 cell to 560 cells. From start of first cleavage till cleavage is over." []	EFO:0005505	"C. elegans 290-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage when embryo just finished gastulation and is enclosing." []	561851	\N	\N	EFO	2	EFO	proliferating embryo Ce	enclosing embryo Ce
EFO:0005858	EFO:0005501	\N	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	EFO:0005505	"C. elegans 290-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage when embryo just finished gastulation and is enclosing." []	1143485	\N	\N	EFO	3	EFO	C. elegans embryo stage	enclosing embryo Ce
EFO:0007725	EFO:0005858	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005505	"C. elegans 290-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage when embryo just finished gastulation and is enclosing." []	2026170	\N	\N	EFO	4	EFO	embryo stage	enclosing embryo Ce
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005505	"C. elegans 290-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage when embryo just finished gastulation and is enclosing." []	3178438	\N	\N	EFO	5	EFO	developmental stage	enclosing embryo Ce
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005505	"C. elegans 290-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage when embryo just finished gastulation and is enclosing." []	4388225	\N	\N	EFO	6	EFO	process	enclosing embryo Ce
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005505	"C. elegans 290-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage when embryo just finished gastulation and is enclosing." []	5408811	\N	\N	EFO	7	EFO	experimental factor	enclosing embryo Ce
EFO:0005506	\N	\N	"C. elegans 350-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The stage that embryo starts elongation till elongation is over." []	EFO:0005506	"C. elegans 350-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The stage that embryo starts elongation till elongation is over." []	67218	\N	\N	EFO	0	EFO	elongating embryo Ce	elongating embryo Ce
EFO:0005858	EFO:0005506	\N	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	EFO:0005506	"C. elegans 350-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The stage that embryo starts elongation till elongation is over." []	208693	\N	\N	EFO	1	EFO	C. elegans embryo stage	elongating embryo Ce
EFO:0007725	EFO:0005858	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005506	"C. elegans 350-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The stage that embryo starts elongation till elongation is over." []	561852	\N	\N	EFO	2	EFO	embryo stage	elongating embryo Ce
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005506	"C. elegans 350-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The stage that embryo starts elongation till elongation is over." []	1143486	\N	\N	EFO	3	EFO	developmental stage	elongating embryo Ce
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005506	"C. elegans 350-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The stage that embryo starts elongation till elongation is over." []	2026171	\N	\N	EFO	4	EFO	process	elongating embryo Ce
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005506	"C. elegans 350-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The stage that embryo starts elongation till elongation is over." []	3178439	\N	\N	EFO	5	EFO	experimental factor	elongating embryo Ce
EFO:0005507	\N	\N	"C. elegans third stage larva specialized for dispersal and long term survival." []	EFO:0005507	"C. elegans third stage larva specialized for dispersal and long term survival." []	67219	\N	\N	EFO	0	EFO	dauer larva	dauer larva
EFO:0007694	EFO:0005507	\N	"Under environmental conditions which are favourable for reproduction, hatched larvae develop through four stages or molts, designated as L1 to L4. When conditions are stressed as in food insufficiency, C. elegans can enter an alternative third larval stage called the dauer state. Dauer is German for permanent. Dauer larvae are stress-resistant; they are thin and their mouths are sealed and cannot take in food, and they can remain in this stage for a few months.[14] Hermaphrodites produce all their sperm in the L4 stage (150 sperm per gonadal arm) and then produce only oocytes. The sperm cells are stored in the same area of the gonad as the oocytes until the first oocyte pushes the sperm into the spermatheca (a chamber wherein the oocytes become fertilized by the sperm)." []	EFO:0005507	"C. elegans third stage larva specialized for dispersal and long term survival." []	208694	\N	\N	EFO	1	EFO	Caenorhabditis elegans larval stage	dauer larva
EFO:0005508	\N	\N	"C. elegans first stage larva. At 25 Centigrade, it ranges 14-25.5 hours after fertilization, 0-11.5 hours after hatch." []	EFO:0005508	"C. elegans first stage larva. At 25 Centigrade, it ranges 14-25.5 hours after fertilization, 0-11.5 hours after hatch." []	67220	\N	\N	EFO	0	EFO	L1 larva	L1 larva
EFO:0007694	EFO:0005508	\N	"Under environmental conditions which are favourable for reproduction, hatched larvae develop through four stages or molts, designated as L1 to L4. When conditions are stressed as in food insufficiency, C. elegans can enter an alternative third larval stage called the dauer state. Dauer is German for permanent. Dauer larvae are stress-resistant; they are thin and their mouths are sealed and cannot take in food, and they can remain in this stage for a few months.[14] Hermaphrodites produce all their sperm in the L4 stage (150 sperm per gonadal arm) and then produce only oocytes. The sperm cells are stored in the same area of the gonad as the oocytes until the first oocyte pushes the sperm into the spermatheca (a chamber wherein the oocytes become fertilized by the sperm)." []	EFO:0005508	"C. elegans first stage larva. At 25 Centigrade, it ranges 14-25.5 hours after fertilization, 0-11.5 hours after hatch." []	208695	\N	\N	EFO	1	EFO	Caenorhabditis elegans larval stage	L1 larva
EFO:0005509	\N	\N	"C. elegans fourth stage larva. At 25 Centigrade, it ranges 40-49.5 hours after fertilization, 26-35.5 hours after hatch." []	EFO:0005509	"C. elegans fourth stage larva. At 25 Centigrade, it ranges 40-49.5 hours after fertilization, 26-35.5 hours after hatch." []	67221	\N	\N	EFO	0	EFO	L4 larva	L4 larva
EFO:0007694	EFO:0005509	\N	"Under environmental conditions which are favourable for reproduction, hatched larvae develop through four stages or molts, designated as L1 to L4. When conditions are stressed as in food insufficiency, C. elegans can enter an alternative third larval stage called the dauer state. Dauer is German for permanent. Dauer larvae are stress-resistant; they are thin and their mouths are sealed and cannot take in food, and they can remain in this stage for a few months.[14] Hermaphrodites produce all their sperm in the L4 stage (150 sperm per gonadal arm) and then produce only oocytes. The sperm cells are stored in the same area of the gonad as the oocytes until the first oocyte pushes the sperm into the spermatheca (a chamber wherein the oocytes become fertilized by the sperm)." []	EFO:0005509	"C. elegans fourth stage larva. At 25 Centigrade, it ranges 40-49.5 hours after fertilization, 26-35.5 hours after hatch." []	208696	\N	\N	EFO	1	EFO	Caenorhabditis elegans larval stage	L4 larva
EFO:0005510	\N	\N	"C. elegans stage when the larval shifts from L2d larva to dauer larva. It includes the synthesis of new cuticle, cease of phrayngeal pumping during a lethargus stage, and the shed off of old cuticle. " []	EFO:0005510	"C. elegans stage when the larval shifts from L2d larva to dauer larva. It includes the synthesis of new cuticle, cease of phrayngeal pumping during a lethargus stage, and the shed off of old cuticle. " []	67222	\N	\N	EFO	0	EFO	L2d-dauer molt	L2d-dauer molt
EFO:0007694	EFO:0005510	\N	"Under environmental conditions which are favourable for reproduction, hatched larvae develop through four stages or molts, designated as L1 to L4. When conditions are stressed as in food insufficiency, C. elegans can enter an alternative third larval stage called the dauer state. Dauer is German for permanent. Dauer larvae are stress-resistant; they are thin and their mouths are sealed and cannot take in food, and they can remain in this stage for a few months.[14] Hermaphrodites produce all their sperm in the L4 stage (150 sperm per gonadal arm) and then produce only oocytes. The sperm cells are stored in the same area of the gonad as the oocytes until the first oocyte pushes the sperm into the spermatheca (a chamber wherein the oocytes become fertilized by the sperm)." []	EFO:0005510	"C. elegans stage when the larval shifts from L2d larva to dauer larva. It includes the synthesis of new cuticle, cease of phrayngeal pumping during a lethargus stage, and the shed off of old cuticle. " []	208697	\N	\N	EFO	1	EFO	Caenorhabditis elegans larval stage	L2d-dauer molt
EFO:0005511	\N	\N	"C. elegans stage right after a larva recovered from dauer but has not started transformation to L4 larva yet." []	EFO:0005511	"C. elegans stage right after a larva recovered from dauer but has not started transformation to L4 larva yet." []	67223	\N	\N	EFO	0	EFO	post dauer stage	post dauer stage
EFO:0007694	EFO:0005511	\N	"Under environmental conditions which are favourable for reproduction, hatched larvae develop through four stages or molts, designated as L1 to L4. When conditions are stressed as in food insufficiency, C. elegans can enter an alternative third larval stage called the dauer state. Dauer is German for permanent. Dauer larvae are stress-resistant; they are thin and their mouths are sealed and cannot take in food, and they can remain in this stage for a few months.[14] Hermaphrodites produce all their sperm in the L4 stage (150 sperm per gonadal arm) and then produce only oocytes. The sperm cells are stored in the same area of the gonad as the oocytes until the first oocyte pushes the sperm into the spermatheca (a chamber wherein the oocytes become fertilized by the sperm)." []	EFO:0005511	"C. elegans stage right after a larva recovered from dauer but has not started transformation to L4 larva yet." []	208698	\N	\N	EFO	1	EFO	Caenorhabditis elegans larval stage	post dauer stage
EFO:0005512	\N	\N	"quantification of the level of estrogen receptors in a tumor" []	EFO:0005512	"quantification of the level of estrogen receptors in a tumor" []	67224	\N	\N	EFO	0	EFO	estrogen receptor status	estrogen receptor status
EFO:0001444	EFO:0005512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005512	"quantification of the level of estrogen receptors in a tumor" []	208699	\N	\N	EFO	1	EFO	measurement	estrogen receptor status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005512	"quantification of the level of estrogen receptors in a tumor" []	561853	\N	\N	EFO	2	EFO	information entity	estrogen receptor status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005512	"quantification of the level of estrogen receptors in a tumor" []	1143487	\N	\N	EFO	3	EFO	experimental factor	estrogen receptor status
EFO:0005513	\N	\N	"quantification of  progesterone receptors in breast cancer. PR status is used in the classification of breast cancers." []	EFO:0005513	"quantification of  progesterone receptors in breast cancer. PR status is used in the classification of breast cancers." []	67225	\N	\N	EFO	0	EFO	progesterone receptor status	progesterone receptor status
EFO:0001444	EFO:0005513	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005513	"quantification of  progesterone receptors in breast cancer. PR status is used in the classification of breast cancers." []	208700	\N	\N	EFO	1	EFO	measurement	progesterone receptor status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005513	"quantification of  progesterone receptors in breast cancer. PR status is used in the classification of breast cancers." []	561854	\N	\N	EFO	2	EFO	information entity	progesterone receptor status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005513	"quantification of  progesterone receptors in breast cancer. PR status is used in the classification of breast cancers." []	1143488	\N	\N	EFO	3	EFO	experimental factor	progesterone receptor status
EFO:0005514	\N	\N	"quantification of the level of human epidermal growth factor receptor 2 (HER2) in a tumor. Amplification or overexpression of the HER2 oncogene plays a role in the development and progression of some breast cancers. " []	EFO:0005514	"quantification of the level of human epidermal growth factor receptor 2 (HER2) in a tumor. Amplification or overexpression of the HER2 oncogene plays a role in the development and progression of some breast cancers. " []	67226	\N	\N	EFO	0	EFO	HER2 status	HER2 status
EFO:0001444	EFO:0005514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005514	"quantification of the level of human epidermal growth factor receptor 2 (HER2) in a tumor. Amplification or overexpression of the HER2 oncogene plays a role in the development and progression of some breast cancers. " []	208701	\N	\N	EFO	1	EFO	measurement	HER2 status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005514	"quantification of the level of human epidermal growth factor receptor 2 (HER2) in a tumor. Amplification or overexpression of the HER2 oncogene plays a role in the development and progression of some breast cancers. " []	561855	\N	\N	EFO	2	EFO	information entity	HER2 status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005514	"quantification of the level of human epidermal growth factor receptor 2 (HER2) in a tumor. Amplification or overexpression of the HER2 oncogene plays a role in the development and progression of some breast cancers. " []	1143489	\N	\N	EFO	3	EFO	experimental factor	HER2 status
EFO:0005517	\N	\N	"RIP-Chip refers to the immunoprecipitation of RNPs from cell extracts and the subsequent microarray analysis of associated RNA molecules." []	EFO:0005517	"RIP-Chip refers to the immunoprecipitation of RNPs from cell extracts and the subsequent microarray analysis of associated RNA molecules." []	67227	\N	\N	EFO	0	EFO	RIP-Chip by array	RIP-Chip by array
EFO:0004108	EFO:0005517	\N	"Experiment type permitted in Atlas" []	EFO:0005517	"RIP-Chip refers to the immunoprecipitation of RNPs from cell extracts and the subsequent microarray analysis of associated RNA molecules." []	208702	\N	\N	EFO	1	EFO	Atlas experiment type	RIP-Chip by array
EFO:0004120	EFO:0005517	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0005517	"RIP-Chip refers to the immunoprecipitation of RNPs from cell extracts and the subsequent microarray analysis of associated RNA molecules." []	208703	\N	\N	EFO	1	EFO	ArrayExpress experiment type	RIP-Chip by array
EFO:0002694	EFO:0004108	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005517	"RIP-Chip refers to the immunoprecipitation of RNPs from cell extracts and the subsequent microarray analysis of associated RNA molecules." []	561856	\N	\N	EFO	2	EFO	experimental process	RIP-Chip by array
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005517	"RIP-Chip refers to the immunoprecipitation of RNPs from cell extracts and the subsequent microarray analysis of associated RNA molecules." []	561857	\N	\N	EFO	2	EFO	experimental process	RIP-Chip by array
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005517	"RIP-Chip refers to the immunoprecipitation of RNPs from cell extracts and the subsequent microarray analysis of associated RNA molecules." []	1143490	\N	\N	EFO	3	EFO	planned process	RIP-Chip by array
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005517	"RIP-Chip refers to the immunoprecipitation of RNPs from cell extracts and the subsequent microarray analysis of associated RNA molecules." []	2026172	\N	\N	EFO	4	EFO	process	RIP-Chip by array
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005517	"RIP-Chip refers to the immunoprecipitation of RNPs from cell extracts and the subsequent microarray analysis of associated RNA molecules." []	3178440	\N	\N	EFO	5	EFO	experimental factor	RIP-Chip by array
EFO:0005518	\N	\N	"Describes the procedure whereby biological samples for an experiment are sourced." []	EFO:0005518	"Describes the procedure whereby biological samples for an experiment are sourced." []	67228	\N	\N	EFO	0	EFO	sample collection protocol	sample collection protocol
OBI:0000272	EFO:0005518	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005518	"Describes the procedure whereby biological samples for an experiment are sourced." []	208704	\N	\N	EFO	1	EFO	protocol	sample collection protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005518	"Describes the procedure whereby biological samples for an experiment are sourced." []	561858	\N	\N	EFO	2	EFO	information entity	sample collection protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005518	"Describes the procedure whereby biological samples for an experiment are sourced." []	1143491	\N	\N	EFO	3	EFO	experimental factor	sample collection protocol
EFO:0005519	\N	\N	"Describes the procedure which dissects biological materials into anatomical sub-components, e.g. specific organs or tissues." []	EFO:0005519	"Describes the procedure which dissects biological materials into anatomical sub-components, e.g. specific organs or tissues." []	67229	\N	\N	EFO	0	EFO	dissection protocol	dissection protocol
OBI:0000272	EFO:0005519	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005519	"Describes the procedure which dissects biological materials into anatomical sub-components, e.g. specific organs or tissues." []	208705	\N	\N	EFO	1	EFO	protocol	dissection protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005519	"Describes the procedure which dissects biological materials into anatomical sub-components, e.g. specific organs or tissues." []	561859	\N	\N	EFO	2	EFO	information entity	dissection protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005519	"Describes the procedure which dissects biological materials into anatomical sub-components, e.g. specific organs or tissues." []	1143492	\N	\N	EFO	3	EFO	experimental factor	dissection protocol
EFO:0005520	\N	\N	"Describes the conversion of samples (e.g. RNA samples) to another form (e.g. complementary DNA) with no prior dedicated extraction step of the former form, and no labeling of the converted product with chemical tags or dyes during the process. Other examples of such conversions are bisulphite conversion for DNA methylation analysis, various RNA modifications prior to immunoprecipitation." []	EFO:0005520	"Describes the conversion of samples (e.g. RNA samples) to another form (e.g. complementary DNA) with no prior dedicated extraction step of the former form, and no labeling of the converted product with chemical tags or dyes during the process. Other examples of such conversions are bisulphite conversion for DNA methylation analysis, various RNA modifications prior to immunoprecipitation." []	67230	\N	\N	EFO	0	EFO	conversion protocol	conversion protocol
OBI:0000272	EFO:0005520	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005520	"Describes the conversion of samples (e.g. RNA samples) to another form (e.g. complementary DNA) with no prior dedicated extraction step of the former form, and no labeling of the converted product with chemical tags or dyes during the process. Other examples of such conversions are bisulphite conversion for DNA methylation analysis, various RNA modifications prior to immunoprecipitation." []	208706	\N	\N	EFO	1	EFO	protocol	conversion protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005520	"Describes the conversion of samples (e.g. RNA samples) to another form (e.g. complementary DNA) with no prior dedicated extraction step of the former form, and no labeling of the converted product with chemical tags or dyes during the process. Other examples of such conversions are bisulphite conversion for DNA methylation analysis, various RNA modifications prior to immunoprecipitation." []	561860	\N	\N	EFO	2	EFO	information entity	conversion protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005520	"Describes the conversion of samples (e.g. RNA samples) to another form (e.g. complementary DNA) with no prior dedicated extraction step of the former form, and no labeling of the converted product with chemical tags or dyes during the process. Other examples of such conversions are bisulphite conversion for DNA methylation analysis, various RNA modifications prior to immunoprecipitation." []	1143493	\N	\N	EFO	3	EFO	experimental factor	conversion protocol
EFO:0005521	\N	\N	"The technology type or platform of the reporters on the array." []	EFO:0005521	"The technology type or platform of the reporters on the array." []	67231	\N	\N	EFO	0	EFO	technology type	technology type
IAO:0000030	EFO:0005521	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005521	"The technology type or platform of the reporters on the array." []	208707	\N	\N	EFO	1	EFO	information entity	technology type
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005521	"The technology type or platform of the reporters on the array." []	561861	\N	\N	EFO	2	EFO	experimental factor	technology type
EFO:0005522	\N	\N	"Controlled terms for descriptors of types of array substrates." []	EFO:0005522	"Controlled terms for descriptors of types of array substrates." []	67232	\N	\N	EFO	0	EFO	substrate type	substrate type
IAO:0000030	EFO:0005522	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005522	"Controlled terms for descriptors of types of array substrates." []	208708	\N	\N	EFO	1	EFO	information entity	substrate type
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005522	"Controlled terms for descriptors of types of array substrates." []	561862	\N	\N	EFO	2	EFO	experimental factor	substrate type
EFO:0005523	\N	\N	"Controlled terms for descriptors for coating of the substrate." []	EFO:0005523	"Controlled terms for descriptors for coating of the substrate." []	67233	\N	\N	EFO	0	EFO	surface type	surface type
IAO:0000030	EFO:0005523	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005523	"Controlled terms for descriptors for coating of the substrate." []	208709	\N	\N	EFO	1	EFO	information entity	surface type
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005523	"Controlled terms for descriptors for coating of the substrate." []	561863	\N	\N	EFO	2	EFO	experimental factor	surface type
EFO:0005524	\N	\N	"stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" []	EFO:0005524	"stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" []	67234	\N	\N	EFO	0	EFO	large artery stroke	large artery stroke
EFO:0000712	EFO:0005524	\N	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	EFO:0005524	"stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" []	208710	\N	\N	EFO	1	EFO	stroke	large artery stroke
EFO:0003763	EFO:0000712	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0005524	"stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" []	561864	\N	\N	EFO	2	EFO	cerebrovascular disorder	large artery stroke
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0005524	"stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" []	1143494	\N	\N	EFO	3	EFO	vascular disease	large artery stroke
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005524	"stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" []	2026173	\N	\N	EFO	4	EFO	cardiovascular disease	large artery stroke
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005524	"stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" []	3178441	\N	\N	EFO	5	EFO	disease	large artery stroke
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005524	"stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" []	4388226	\N	\N	EFO	6	EFO	disposition	large artery stroke
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005524	"stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" []	5408812	\N	\N	EFO	7	EFO	material property	large artery stroke
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005524	"stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" []	6147502	\N	\N	EFO	8	EFO	experimental factor	large artery stroke
EFO:0005526	\N	\N	"physiological response of an organism, eg in terms of flushing, to consuming alcohol" []	EFO:0005526	"physiological response of an organism, eg in terms of flushing, to consuming alcohol" []	67235	\N	\N	EFO	0	EFO	response to alcohol	response to alcohol
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0005526	"physiological response of an organism, eg in terms of flushing, to consuming alcohol" []	194740	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to alcohol
EFO:0005527	\N	\N	"quantification of the volumetric fraction of blood pumped out of the left and right ventricle with each heartbeat or cardiac cycle" []	EFO:0005527	"quantification of the volumetric fraction of blood pumped out of the left and right ventricle with each heartbeat or cardiac cycle" []	67236	\N	\N	EFO	0	EFO	ejection fraction measurement	ejection fraction measurement
EFO:0005278	EFO:0005527	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005527	"quantification of the volumetric fraction of blood pumped out of the left and right ventricle with each heartbeat or cardiac cycle" []	208711	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	ejection fraction measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005527	"quantification of the volumetric fraction of blood pumped out of the left and right ventricle with each heartbeat or cardiac cycle" []	561865	\N	\N	EFO	2	EFO	cardiovascular measurement	ejection fraction measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005527	"quantification of the volumetric fraction of blood pumped out of the left and right ventricle with each heartbeat or cardiac cycle" []	1143495	\N	\N	EFO	3	EFO	measurement	ejection fraction measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005527	"quantification of the volumetric fraction of blood pumped out of the left and right ventricle with each heartbeat or cardiac cycle" []	2026174	\N	\N	EFO	4	EFO	information entity	ejection fraction measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005527	"quantification of the volumetric fraction of blood pumped out of the left and right ventricle with each heartbeat or cardiac cycle" []	3178442	\N	\N	EFO	5	EFO	experimental factor	ejection fraction measurement
EFO:0005528	\N	\N	"quantification of the content of parasites in the blood, used as a measurement of parasite load in the organism and an indication of the degree of an active parasitic infection" []	EFO:0005528	"quantification of the content of parasites in the blood, used as a measurement of parasite load in the organism and an indication of the degree of an active parasitic infection" []	67237	\N	\N	EFO	0	EFO	parasitemia measurement	parasitemia measurement
EFO:0006843	EFO:0005528	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0005528	"quantification of the content of parasites in the blood, used as a measurement of parasite load in the organism and an indication of the degree of an active parasitic infection" []	208712	\N	\N	EFO	1	EFO	infectious disease biomarker	parasitemia measurement
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005528	"quantification of the content of parasites in the blood, used as a measurement of parasite load in the organism and an indication of the degree of an active parasitic infection" []	561866	\N	\N	EFO	2	EFO	measurement	parasitemia measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005528	"quantification of the content of parasites in the blood, used as a measurement of parasite load in the organism and an indication of the degree of an active parasitic infection" []	1143496	\N	\N	EFO	3	EFO	information entity	parasitemia measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005528	"quantification of the content of parasites in the blood, used as a measurement of parasite load in the organism and an indication of the degree of an active parasitic infection" []	2026175	\N	\N	EFO	4	EFO	experimental factor	parasitemia measurement
EFO:0005529	\N	\N	"a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi" []	EFO:0005529	"a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi" []	67238	\N	\N	EFO	0	EFO	Chagas cardiomyopathy	Chagas cardiomyopathy
EFO:0000318	EFO:0005529	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:0005529	"a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi" []	208713	\N	\N	EFO	1	EFO	cardiomyopathy	Chagas cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005529	"a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi" []	561867	\N	\N	EFO	2	EFO	heart disease	Chagas cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005529	"a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi" []	1143497	\N	\N	EFO	3	EFO	cardiovascular disease	Chagas cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005529	"a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi" []	2026176	\N	\N	EFO	4	EFO	disease	Chagas cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005529	"a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi" []	3178443	\N	\N	EFO	5	EFO	disposition	Chagas cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005529	"a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi" []	4388227	\N	\N	EFO	6	EFO	material property	Chagas cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005529	"a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi" []	5408813	\N	\N	EFO	7	EFO	experimental factor	Chagas cardiomyopathy
EFO:0005530	\N	\N	"Trypanosoma cruzi seropositivity is the result of a measurement of circulating T. cruzi specific antibodies " []	EFO:0005530	"Trypanosoma cruzi seropositivity is the result of a measurement of circulating T. cruzi specific antibodies " []	67239	\N	\N	EFO	0	EFO	Trypanosoma cruzi seropositivity	Trypanosoma cruzi seropositivity
EFO:0006843	EFO:0005530	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0005530	"Trypanosoma cruzi seropositivity is the result of a measurement of circulating T. cruzi specific antibodies " []	208714	\N	\N	EFO	1	EFO	infectious disease biomarker	Trypanosoma cruzi seropositivity
EFO:0007034	EFO:0005530	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0005530	"Trypanosoma cruzi seropositivity is the result of a measurement of circulating T. cruzi specific antibodies " []	208715	\N	\N	EFO	1	EFO	seropositivity measurement	Trypanosoma cruzi seropositivity
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005530	"Trypanosoma cruzi seropositivity is the result of a measurement of circulating T. cruzi specific antibodies " []	561868	\N	\N	EFO	2	EFO	measurement	Trypanosoma cruzi seropositivity
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005530	"Trypanosoma cruzi seropositivity is the result of a measurement of circulating T. cruzi specific antibodies " []	561869	\N	\N	EFO	2	EFO	measurement	Trypanosoma cruzi seropositivity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005530	"Trypanosoma cruzi seropositivity is the result of a measurement of circulating T. cruzi specific antibodies " []	1143498	\N	\N	EFO	3	EFO	information entity	Trypanosoma cruzi seropositivity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005530	"Trypanosoma cruzi seropositivity is the result of a measurement of circulating T. cruzi specific antibodies " []	2026177	\N	\N	EFO	4	EFO	experimental factor	Trypanosoma cruzi seropositivity
EFO:0005531	\N	\N	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	EFO:0005531	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	67240	\N	\N	EFO	0	EFO	urticaria	urticaria
EFO:0000701	EFO:0005531	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0005531	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	208716	\N	\N	EFO	1	EFO	skin disease	urticaria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005531	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	561870	\N	\N	EFO	2	EFO	disease	urticaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005531	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	1143499	\N	\N	EFO	3	EFO	disposition	urticaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005531	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	2026178	\N	\N	EFO	4	EFO	material property	urticaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005531	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	3178444	\N	\N	EFO	5	EFO	experimental factor	urticaria
EFO:0005532	\N	\N	"condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis" []	EFO:0005532	"condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis" []	67241	\N	\N	EFO	0	EFO	angioedema	angioedema
EFO:0000701	EFO:0005532	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0005532	"condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis" []	208717	\N	\N	EFO	1	EFO	skin disease	angioedema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005532	"condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis" []	561871	\N	\N	EFO	2	EFO	disease	angioedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005532	"condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis" []	1143500	\N	\N	EFO	3	EFO	disposition	angioedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005532	"condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis" []	2026179	\N	\N	EFO	4	EFO	material property	angioedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005532	"condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis" []	3178445	\N	\N	EFO	5	EFO	experimental factor	angioedema
EFO:0005533	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a non-steroidal anti-inflammatory." []	EFO:0005533	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a non-steroidal anti-inflammatory." []	67242	\N	\N	EFO	0	EFO	response to non-steroidal anti-inflammatory	response to non-steroidal anti-inflammatory
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0005533	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a non-steroidal anti-inflammatory." []	194741	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to non-steroidal anti-inflammatory
EFO:0005534	\N	\N	"anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" []	EFO:0005534	"anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" []	67243	\N	\N	EFO	0	EFO	delayed encephalopathy after acute carbon monoxide poisoning	delayed encephalopathy after acute carbon monoxide poisoning
EFO:0005774	EFO:0005534	\N	"A disease affecting the brain or part of the brain." []	EFO:0005534	"anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" []	208718	\N	\N	EFO	1	EFO	brain disease	delayed encephalopathy after acute carbon monoxide poisoning
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005534	"anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" []	561872	\N	\N	EFO	2	EFO	nervous system disease	delayed encephalopathy after acute carbon monoxide poisoning
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005534	"anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" []	1143501	\N	\N	EFO	3	EFO	disease	delayed encephalopathy after acute carbon monoxide poisoning
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005534	"anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" []	2026180	\N	\N	EFO	4	EFO	disposition	delayed encephalopathy after acute carbon monoxide poisoning
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005534	"anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" []	3178446	\N	\N	EFO	5	EFO	material property	delayed encephalopathy after acute carbon monoxide poisoning
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005534	"anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" []	4388228	\N	\N	EFO	6	EFO	experimental factor	delayed encephalopathy after acute carbon monoxide poisoning
EFO:0005535	\N	\N	"A vial is a unique aliquot of biological material e.g. iPSC " []	EFO:0005535	"A vial is a unique aliquot of biological material e.g. iPSC " []	67244	\N	\N	EFO	0	EFO	specimen vial	specimen vial
OBI:0100051	EFO:0005535	\N	"A material which is obtained and stored for potential use during an investigation." []	EFO:0005535	"A vial is a unique aliquot of biological material e.g. iPSC " []	208719	\N	\N	EFO	1	EFO	specimen	specimen vial
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005535	"A vial is a unique aliquot of biological material e.g. iPSC " []	561873	\N	\N	EFO	2	EFO	material entity	specimen vial
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005535	"A vial is a unique aliquot of biological material e.g. iPSC " []	1143502	\N	\N	EFO	3	EFO	experimental factor	specimen vial
EFO:0005536	\N	\N	"Quantification of the fraction of nitric oxide in the total exhalation volume, used as a non-invasive biomarker of eosinophilic airway inflammation. Higher Feno values are associated with childhood asthma symptoms, exacerbations, physician-diagnosed asthma and atopy." []	EFO:0005536	"Quantification of the fraction of nitric oxide in the total exhalation volume, used as a non-invasive biomarker of eosinophilic airway inflammation. Higher Feno values are associated with childhood asthma symptoms, exacerbations, physician-diagnosed asthma and atopy." []	67245	\N	\N	EFO	0	EFO	nitric oxide exhalation measurement	nitric oxide exhalation measurement
EFO:0001444	EFO:0005536	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005536	"Quantification of the fraction of nitric oxide in the total exhalation volume, used as a non-invasive biomarker of eosinophilic airway inflammation. Higher Feno values are associated with childhood asthma symptoms, exacerbations, physician-diagnosed asthma and atopy." []	208720	\N	\N	EFO	1	EFO	measurement	nitric oxide exhalation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005536	"Quantification of the fraction of nitric oxide in the total exhalation volume, used as a non-invasive biomarker of eosinophilic airway inflammation. Higher Feno values are associated with childhood asthma symptoms, exacerbations, physician-diagnosed asthma and atopy." []	561874	\N	\N	EFO	2	EFO	information entity	nitric oxide exhalation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005536	"Quantification of the fraction of nitric oxide in the total exhalation volume, used as a non-invasive biomarker of eosinophilic airway inflammation. Higher Feno values are associated with childhood asthma symptoms, exacerbations, physician-diagnosed asthma and atopy." []	1143503	\N	\N	EFO	3	EFO	experimental factor	nitric oxide exhalation measurement
EFO:0005537	\N	\N	"an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative" []	EFO:0005537	"an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative" []	67246	\N	\N	EFO	0	EFO	triple-negative breast cancer	triple-negative breast cancer
EFO:0000305	EFO:0005537	\N	"Tumors or cancer of the human BREAST." []	EFO:0005537	"an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative" []	208721	\N	\N	EFO	1	EFO	breast carcinoma	triple-negative breast cancer
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005537	"an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative" []	561875	\N	\N	EFO	2	EFO	carcinoma	triple-negative breast cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005537	"an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative" []	1143504	\N	\N	EFO	3	EFO	cancer	triple-negative breast cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005537	"an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative" []	1143505	\N	\N	EFO	3	EFO	epithelial neoplasm	triple-negative breast cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005537	"an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative" []	2026181	\N	\N	EFO	4	EFO	neoplasm	triple-negative breast cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005537	"an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative" []	2026182	\N	\N	EFO	4	EFO	neoplasm	triple-negative breast cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005537	"an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative" []	3178447	\N	\N	EFO	5	EFO	disease	triple-negative breast cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005537	"an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative" []	4388229	\N	\N	EFO	6	EFO	disposition	triple-negative breast cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005537	"an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative" []	5408814	\N	\N	EFO	7	EFO	material property	triple-negative breast cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005537	"an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative" []	6147503	\N	\N	EFO	8	EFO	experimental factor	triple-negative breast cancer
EFO:0005538	\N	\N	"quantification of the capacity of a given individual to generate thrombin, measured in plasma and shown to associate with thrombotic disorders" []	EFO:0005538	"quantification of the capacity of a given individual to generate thrombin, measured in plasma and shown to associate with thrombotic disorders" []	67247	\N	\N	EFO	0	EFO	thrombin generation potential measurement	thrombin generation potential measurement
EFO:0001444	EFO:0005538	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005538	"quantification of the capacity of a given individual to generate thrombin, measured in plasma and shown to associate with thrombotic disorders" []	208722	\N	\N	EFO	1	EFO	measurement	thrombin generation potential measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005538	"quantification of the capacity of a given individual to generate thrombin, measured in plasma and shown to associate with thrombotic disorders" []	561876	\N	\N	EFO	2	EFO	information entity	thrombin generation potential measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005538	"quantification of the capacity of a given individual to generate thrombin, measured in plasma and shown to associate with thrombotic disorders" []	1143506	\N	\N	EFO	3	EFO	experimental factor	thrombin generation potential measurement
EFO:0005539	\N	\N	"An endocrine system disease that is located_in the adrenal gland." []	EFO:0005539	"An endocrine system disease that is located_in the adrenal gland." []	67248	\N	\N	EFO	0	EFO	adrenal gland disease	adrenal gland disease
EFO:0001379	EFO:0005539	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0005539	"An endocrine system disease that is located_in the adrenal gland." []	208723	\N	\N	EFO	1	EFO	endocrine system disease	adrenal gland disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005539	"An endocrine system disease that is located_in the adrenal gland." []	561877	\N	\N	EFO	2	EFO	disease	adrenal gland disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005539	"An endocrine system disease that is located_in the adrenal gland." []	1143507	\N	\N	EFO	3	EFO	disposition	adrenal gland disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005539	"An endocrine system disease that is located_in the adrenal gland." []	2026183	\N	\N	EFO	4	EFO	material property	adrenal gland disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005539	"An endocrine system disease that is located_in the adrenal gland." []	3178448	\N	\N	EFO	5	EFO	experimental factor	adrenal gland disease
EFO:0005540	\N	\N	"A carcinoma that starts in the bile duct." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	67249	\N	\N	EFO	0	EFO	bile duct carcinoma	bile duct carcinoma
EFO:0000313	EFO:0005540	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	208724	\N	\N	EFO	1	EFO	carcinoma	bile duct carcinoma
EFO:1001513	EFO:0005540	\N	"Tumors or cancers of the LIVER." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	208725	\N	\N	EFO	1	EFO	liver neoplasm	bile duct carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	561878	\N	\N	EFO	2	EFO	cancer	bile duct carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005540	"A carcinoma that starts in the bile duct." []	561879	\N	\N	EFO	2	EFO	epithelial neoplasm	bile duct carcinoma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	561880	\N	\N	EFO	2	EFO	liver disease	bile duct carcinoma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	561881	\N	\N	EFO	2	EFO	endocrine neoplasm	bile duct carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	1143508	\N	\N	EFO	3	EFO	neoplasm	bile duct carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	1143509	\N	\N	EFO	3	EFO	neoplasm	bile duct carcinoma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	1143510	\N	\N	EFO	3	EFO	digestive system disease	bile duct carcinoma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	1143511	\N	\N	EFO	3	EFO	endocrine system disease	bile duct carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	1143512	\N	\N	EFO	3	EFO	neoplasm	bile duct carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	1143513	\N	\N	EFO	3	EFO	endocrine system disease	bile duct carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	2026184	\N	\N	EFO	4	EFO	disease	bile duct carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	2026185	\N	\N	EFO	4	EFO	disease	bile duct carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	2026186	\N	\N	EFO	4	EFO	disease	bile duct carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	3178449	\N	\N	EFO	5	EFO	disposition	bile duct carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	4388230	\N	\N	EFO	6	EFO	material property	bile duct carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005540	"A carcinoma that starts in the bile duct." []	5408815	\N	\N	EFO	7	EFO	experimental factor	bile duct carcinoma
EFO:0005541	\N	\N	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	EFO:0005541	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	67250	\N	\N	EFO	0	EFO	bone development disease	bone development disease
EFO:0004260	EFO:0005541	\N	"Diseases of BONES." []	EFO:0005541	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	208726	\N	\N	EFO	1	EFO	bone disease	bone development disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0005541	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	561882	\N	\N	EFO	2	EFO	skeletal system disease	bone development disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005541	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	1143514	\N	\N	EFO	3	EFO	disease	bone development disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005541	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	2026187	\N	\N	EFO	4	EFO	disposition	bone development disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005541	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	3178450	\N	\N	EFO	5	EFO	material property	bone development disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005541	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	4388231	\N	\N	EFO	6	EFO	experimental factor	bone development disease
EFO:0005542	\N	\N	"A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F." []	EFO:0005542	"A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F." []	67251	\N	\N	EFO	0	EFO	botulism	botulism
EFO:0000771	EFO:0005542	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0005542	"A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F." []	208727	\N	\N	EFO	1	EFO	bacterial disease	botulism
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005542	"A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F." []	561883	\N	\N	EFO	2	EFO	infectious disease	botulism
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005542	"A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F." []	1143515	\N	\N	EFO	3	EFO	disease	botulism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005542	"A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F." []	2026188	\N	\N	EFO	4	EFO	disposition	botulism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005542	"A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F." []	3178451	\N	\N	EFO	5	EFO	material property	botulism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005542	"A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F." []	4388232	\N	\N	EFO	6	EFO	experimental factor	botulism
EFO:0005543	\N	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	67252	\N	\N	EFO	0	EFO	glioma	glioma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	208728	\N	\N	EFO	1	EFO	central nervous system cancer	glioma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	208729	\N	\N	EFO	1	EFO	brain neoplasm	glioma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	561884	\N	\N	EFO	2	EFO	cancer	glioma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	561885	\N	\N	EFO	2	EFO	nervous system disease	glioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	561886	\N	\N	EFO	2	EFO	neoplasm	glioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	561887	\N	\N	EFO	2	EFO	brain disease	glioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	1143516	\N	\N	EFO	3	EFO	neoplasm	glioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	2026191	\N	\N	EFO	4	EFO	disease	glioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	2026189	\N	\N	EFO	4	EFO	disease	glioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	1143519	\N	\N	EFO	3	EFO	nervous system disease	glioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	2999654	\N	\N	EFO	5	EFO	disposition	glioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	4132678	\N	\N	EFO	6	EFO	material property	glioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005543	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	5180995	\N	\N	EFO	7	EFO	experimental factor	glioma
EFO:0005545	\N	\N	"A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." []	EFO:0005545	"A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." []	67253	\N	\N	EFO	0	EFO	congenital disorder of glycosylation type I	congenital disorder of glycosylation type I
Orphanet:137	EFO:0005545	\N	"" []	EFO:0005545	"A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." []	208730	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation	congenital disorder of glycosylation type I
Orphanet:68367	Orphanet:137	\N	"" []	EFO:0005545	"A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." []	561888	\N	\N	EFO	2	EFO	Inborn errors of metabolism	congenital disorder of glycosylation type I
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0005545	"A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." []	1143520	\N	\N	EFO	3	EFO	genetic disorder	congenital disorder of glycosylation type I
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0005545	"A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." []	1143521	\N	\N	EFO	3	EFO	metabolic disease	congenital disorder of glycosylation type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005545	"A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." []	2026192	\N	\N	EFO	4	EFO	disease	congenital disorder of glycosylation type I
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005545	"A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." []	2026193	\N	\N	EFO	4	EFO	disease	congenital disorder of glycosylation type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005545	"A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." []	3178453	\N	\N	EFO	5	EFO	disposition	congenital disorder of glycosylation type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005545	"A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." []	4388234	\N	\N	EFO	6	EFO	material property	congenital disorder of glycosylation type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005545	"A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." []	5408816	\N	\N	EFO	7	EFO	experimental factor	congenital disorder of glycosylation type I
EFO:0005546	\N	\N	"A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." []	EFO:0005546	"A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." []	67254	\N	\N	EFO	0	EFO	congenital disorder of glycosylation type II	congenital disorder of glycosylation type II
Orphanet:137	EFO:0005546	\N	"" []	EFO:0005546	"A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." []	208731	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation	congenital disorder of glycosylation type II
Orphanet:68367	Orphanet:137	\N	"" []	EFO:0005546	"A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." []	561889	\N	\N	EFO	2	EFO	Inborn errors of metabolism	congenital disorder of glycosylation type II
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0005546	"A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." []	1143522	\N	\N	EFO	3	EFO	genetic disorder	congenital disorder of glycosylation type II
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0005546	"A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." []	1143523	\N	\N	EFO	3	EFO	metabolic disease	congenital disorder of glycosylation type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005546	"A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." []	2026194	\N	\N	EFO	4	EFO	disease	congenital disorder of glycosylation type II
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005546	"A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." []	2026195	\N	\N	EFO	4	EFO	disease	congenital disorder of glycosylation type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005546	"A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." []	3178454	\N	\N	EFO	5	EFO	disposition	congenital disorder of glycosylation type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005546	"A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." []	4388235	\N	\N	EFO	6	EFO	material property	congenital disorder of glycosylation type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005546	"A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." []	5408817	\N	\N	EFO	7	EFO	experimental factor	congenital disorder of glycosylation type II
EFO:0005547	\N	\N	"A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding." []	EFO:0005547	"A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding." []	67255	\N	\N	EFO	0	EFO	dengue disease	dengue disease
EFO:0000763	EFO:0005547	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0005547	"A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding." []	208732	\N	\N	EFO	1	EFO	viral disease	dengue disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005547	"A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding." []	561890	\N	\N	EFO	2	EFO	infectious disease	dengue disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005547	"A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding." []	1143524	\N	\N	EFO	3	EFO	disease	dengue disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005547	"A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding." []	2026196	\N	\N	EFO	4	EFO	disposition	dengue disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005547	"A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding." []	3178455	\N	\N	EFO	5	EFO	material property	dengue disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005547	"A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding." []	4388236	\N	\N	EFO	6	EFO	experimental factor	dengue disease
EFO:0005548	\N	\N	"A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development." []	EFO:0005548	"A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development." []	67256	\N	\N	EFO	0	EFO	developmental disorder of mental health	developmental disorder of mental health
EFO:0000677	EFO:0005548	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005548	"A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development." []	208733	\N	\N	EFO	1	EFO	mental or behavioural disorder	developmental disorder of mental health
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005548	"A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development." []	561891	\N	\N	EFO	2	EFO	brain disease	developmental disorder of mental health
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005548	"A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development." []	1143525	\N	\N	EFO	3	EFO	nervous system disease	developmental disorder of mental health
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005548	"A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development." []	2026197	\N	\N	EFO	4	EFO	disease	developmental disorder of mental health
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005548	"A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development." []	3178456	\N	\N	EFO	5	EFO	disposition	developmental disorder of mental health
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005548	"A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development." []	4388237	\N	\N	EFO	6	EFO	material property	developmental disorder of mental health
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005548	"A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development." []	5408818	\N	\N	EFO	7	EFO	experimental factor	developmental disorder of mental health
EFO:0005549	\N	\N	"A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." []	EFO:0005549	"A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." []	67257	\N	\N	EFO	0	EFO	diphtheria	diphtheria
EFO:0000771	EFO:0005549	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0005549	"A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." []	208734	\N	\N	EFO	1	EFO	bacterial disease	diphtheria
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005549	"A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." []	561892	\N	\N	EFO	2	EFO	infectious disease	diphtheria
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005549	"A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." []	1143526	\N	\N	EFO	3	EFO	disease	diphtheria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005549	"A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." []	2026198	\N	\N	EFO	4	EFO	disposition	diphtheria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005549	"A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." []	3178457	\N	\N	EFO	5	EFO	material property	diphtheria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005549	"A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." []	4388238	\N	\N	EFO	6	EFO	experimental factor	diphtheria
EFO:0005551	\N	\N	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	EFO:0005551	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	67258	\N	\N	EFO	0	EFO	dysembryoplastic neuroepithelial tumor	dysembryoplastic neuroepithelial tumor
EFO:0002422	EFO:0005551	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0005551	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	208735	\N	\N	EFO	1	EFO	benign neoplasm	dysembryoplastic neuroepithelial tumor
EFO:0003833	EFO:0005551	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0005551	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	208736	\N	\N	EFO	1	EFO	brain neoplasm	dysembryoplastic neuroepithelial tumor
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005551	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	561893	\N	\N	EFO	2	EFO	neoplasm	dysembryoplastic neuroepithelial tumor
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005551	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	561894	\N	\N	EFO	2	EFO	neoplasm	dysembryoplastic neuroepithelial tumor
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0005551	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	561895	\N	\N	EFO	2	EFO	brain disease	dysembryoplastic neuroepithelial tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005551	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	1143527	\N	\N	EFO	3	EFO	disease	dysembryoplastic neuroepithelial tumor
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005551	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	1143528	\N	\N	EFO	3	EFO	nervous system disease	dysembryoplastic neuroepithelial tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005551	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	3178459	\N	\N	EFO	5	EFO	disposition	dysembryoplastic neuroepithelial tumor
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005551	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	2026200	\N	\N	EFO	4	EFO	disease	dysembryoplastic neuroepithelial tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005551	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	4132679	\N	\N	EFO	6	EFO	material property	dysembryoplastic neuroepithelial tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005551	"A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface." []	5180996	\N	\N	EFO	7	EFO	experimental factor	dysembryoplastic neuroepithelial tumor
EFO:0005553	\N	\N	"An cancer with eccrine differentiation arising from the sweat glands." []	EFO:0005553	"An cancer with eccrine differentiation arising from the sweat glands." []	67259	\N	\N	EFO	0	EFO	eccrine sweat gland cancer	eccrine sweat gland cancer
EFO:0000311	EFO:0005553	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005553	"An cancer with eccrine differentiation arising from the sweat glands." []	208737	\N	\N	EFO	1	EFO	cancer	eccrine sweat gland cancer
EFO:0004198	EFO:0005553	\N	"Tumors or cancer of the SKIN." []	EFO:0005553	"An cancer with eccrine differentiation arising from the sweat glands." []	208738	\N	\N	EFO	1	EFO	skin neoplasm	eccrine sweat gland cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005553	"An cancer with eccrine differentiation arising from the sweat glands." []	561896	\N	\N	EFO	2	EFO	neoplasm	eccrine sweat gland cancer
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005553	"An cancer with eccrine differentiation arising from the sweat glands." []	561897	\N	\N	EFO	2	EFO	neoplasm	eccrine sweat gland cancer
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0005553	"An cancer with eccrine differentiation arising from the sweat glands." []	561898	\N	\N	EFO	2	EFO	skin disease	eccrine sweat gland cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005553	"An cancer with eccrine differentiation arising from the sweat glands." []	1143529	\N	\N	EFO	3	EFO	disease	eccrine sweat gland cancer
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005553	"An cancer with eccrine differentiation arising from the sweat glands." []	1143530	\N	\N	EFO	3	EFO	disease	eccrine sweat gland cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005553	"An cancer with eccrine differentiation arising from the sweat glands." []	2026201	\N	\N	EFO	4	EFO	disposition	eccrine sweat gland cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005553	"An cancer with eccrine differentiation arising from the sweat glands." []	3178460	\N	\N	EFO	5	EFO	material property	eccrine sweat gland cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005553	"An cancer with eccrine differentiation arising from the sweat glands." []	4388240	\N	\N	EFO	6	EFO	experimental factor	eccrine sweat gland cancer
EFO:0005555	\N	\N	"A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells." []	EFO:0005555	"A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells." []	67260	\N	\N	EFO	0	EFO	gamma chain deficiency	gamma chain deficiency
EFO:0000540	EFO:0005555	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005555	"A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells." []	208739	\N	\N	EFO	1	EFO	immune system disease	gamma chain deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005555	"A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells." []	561899	\N	\N	EFO	2	EFO	disease	gamma chain deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005555	"A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells." []	1143531	\N	\N	EFO	3	EFO	disposition	gamma chain deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005555	"A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells." []	2026202	\N	\N	EFO	4	EFO	material property	gamma chain deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005555	"A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells." []	3178461	\N	\N	EFO	5	EFO	experimental factor	gamma chain deficiency
EFO:0005556	\N	\N	"A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." []	EFO:0005556	"A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." []	67261	\N	\N	EFO	0	EFO	Gilbert syndrome	Gilbert syndrome
EFO:0000589	EFO:0005556	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0005556	"A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." []	208740	\N	\N	EFO	1	EFO	metabolic disease	Gilbert syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005556	"A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." []	561900	\N	\N	EFO	2	EFO	disease	Gilbert syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005556	"A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." []	1143532	\N	\N	EFO	3	EFO	disposition	Gilbert syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005556	"A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." []	2026203	\N	\N	EFO	4	EFO	material property	Gilbert syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005556	"A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." []	3178462	\N	\N	EFO	5	EFO	experimental factor	Gilbert syndrome
EFO:0005557	\N	\N	"A primary or metastatic malignant neoplasm that affects the gums." []	EFO:0005557	"A primary or metastatic malignant neoplasm that affects the gums." []	67262	\N	\N	EFO	0	EFO	gum cancer	gum cancer
EFO:0000311	EFO:0005557	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005557	"A primary or metastatic malignant neoplasm that affects the gums." []	208741	\N	\N	EFO	1	EFO	cancer	gum cancer
EFO:0005950	EFO:0005557	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0005557	"A primary or metastatic malignant neoplasm that affects the gums." []	208742	\N	\N	EFO	1	EFO	head and neck neoplasia	gum cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005557	"A primary or metastatic malignant neoplasm that affects the gums." []	561901	\N	\N	EFO	2	EFO	neoplasm	gum cancer
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0005557	"A primary or metastatic malignant neoplasm that affects the gums." []	561902	\N	\N	EFO	2	EFO	head disease	gum cancer
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005557	"A primary or metastatic malignant neoplasm that affects the gums." []	561903	\N	\N	EFO	2	EFO	neoplasm	gum cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005557	"A primary or metastatic malignant neoplasm that affects the gums." []	1143533	\N	\N	EFO	3	EFO	disease	gum cancer
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005557	"A primary or metastatic malignant neoplasm that affects the gums." []	1143534	\N	\N	EFO	3	EFO	disease	gum cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005557	"A primary or metastatic malignant neoplasm that affects the gums." []	2026204	\N	\N	EFO	4	EFO	disposition	gum cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005557	"A primary or metastatic malignant neoplasm that affects the gums." []	3178463	\N	\N	EFO	5	EFO	material property	gum cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005557	"A primary or metastatic malignant neoplasm that affects the gums." []	4388241	\N	\N	EFO	6	EFO	experimental factor	gum cancer
EFO:0005558	\N	\N	"Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies." []	EFO:0005558	"Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies." []	67263	\N	\N	EFO	0	EFO	hemolytic anemia	hemolytic anemia
EFO:0004272	EFO:0005558	\N	"A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin." []	EFO:0005558	"Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies." []	208743	\N	\N	EFO	1	EFO	anemia	hemolytic anemia
EFO:0005560	\N	\N	"An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth." []	EFO:0005560	"An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth." []	67264	\N	\N	EFO	0	EFO	hereditary multiple exostoses	hereditary multiple exostoses
EFO:0004260	EFO:0005560	\N	"Diseases of BONES." []	EFO:0005560	"An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth." []	208744	\N	\N	EFO	1	EFO	bone disease	hereditary multiple exostoses
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0005560	"An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth." []	561904	\N	\N	EFO	2	EFO	skeletal system disease	hereditary multiple exostoses
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005560	"An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth." []	1143535	\N	\N	EFO	3	EFO	disease	hereditary multiple exostoses
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005560	"An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth." []	2026205	\N	\N	EFO	4	EFO	disposition	hereditary multiple exostoses
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005560	"An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth." []	3178464	\N	\N	EFO	5	EFO	material property	hereditary multiple exostoses
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005560	"An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth." []	4388242	\N	\N	EFO	6	EFO	experimental factor	hereditary multiple exostoses
EFO:0005561	\N	\N	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	EFO:0005561	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	67265	\N	\N	EFO	0	EFO	histiocytoma	histiocytoma
EFO:0000691	EFO:0005561	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0005561	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	208745	\N	\N	EFO	1	EFO	sarcoma	histiocytoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005561	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	561905	\N	\N	EFO	2	EFO	cancer	histiocytoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005561	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	1143536	\N	\N	EFO	3	EFO	neoplasm	histiocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005561	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	2026206	\N	\N	EFO	4	EFO	disease	histiocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005561	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	3178465	\N	\N	EFO	5	EFO	disposition	histiocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005561	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	4388243	\N	\N	EFO	6	EFO	material property	histiocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005561	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	5408819	\N	\N	EFO	7	EFO	experimental factor	histiocytoma
EFO:0005562	\N	\N	"Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." []	EFO:0005562	"Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." []	67266	\N	\N	EFO	0	EFO	hydronephrosis	hydronephrosis
EFO:0003086	EFO:0005562	\N	"A disease affecting the kidneys" []	EFO:0005562	"Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." []	208746	\N	\N	EFO	1	EFO	kidney disease	hydronephrosis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005562	"Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." []	561906	\N	\N	EFO	2	EFO	disease	hydronephrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005562	"Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." []	1143537	\N	\N	EFO	3	EFO	disposition	hydronephrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005562	"Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." []	2026207	\N	\N	EFO	4	EFO	material property	hydronephrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005562	"Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." []	3178466	\N	\N	EFO	5	EFO	experimental factor	hydronephrosis
EFO:0005565	\N	\N	"Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." []	EFO:0005565	"Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." []	67267	\N	\N	EFO	0	EFO	janus kinase-3 deficiency	janus kinase-3 deficiency
EFO:0000540	EFO:0005565	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005565	"Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." []	208747	\N	\N	EFO	1	EFO	immune system disease	janus kinase-3 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005565	"Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." []	561907	\N	\N	EFO	2	EFO	disease	janus kinase-3 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005565	"Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." []	1143538	\N	\N	EFO	3	EFO	disposition	janus kinase-3 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005565	"Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." []	2026208	\N	\N	EFO	4	EFO	material property	janus kinase-3 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005565	"Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." []	3178467	\N	\N	EFO	5	EFO	experimental factor	janus kinase-3 deficiency
EFO:0005567	\N	\N	"An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." []	EFO:0005567	"An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." []	67268	\N	\N	EFO	0	EFO	malignant peritoneal mesothelioma	malignant peritoneal mesothelioma
EFO:0000588	EFO:0005567	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:0005567	"An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." []	208748	\N	\N	EFO	1	EFO	mesothelioma	malignant peritoneal mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005567	"An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." []	561908	\N	\N	EFO	2	EFO	cancer	malignant peritoneal mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005567	"An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." []	1143539	\N	\N	EFO	3	EFO	neoplasm	malignant peritoneal mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005567	"An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." []	2026209	\N	\N	EFO	4	EFO	disease	malignant peritoneal mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005567	"An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." []	3178468	\N	\N	EFO	5	EFO	disposition	malignant peritoneal mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005567	"An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." []	4388244	\N	\N	EFO	6	EFO	material property	malignant peritoneal mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005567	"An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." []	5408820	\N	\N	EFO	7	EFO	experimental factor	malignant peritoneal mesothelioma
EFO:0005568	\N	\N	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	EFO:0005568	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	67269	\N	\N	EFO	0	EFO	methylmalonic aciduria and homocystinuria type cblE	methylmalonic aciduria and homocystinuria type cblE
EFO:0000508	EFO:0005568	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0005568	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	208749	\N	\N	EFO	1	EFO	genetic disorder	methylmalonic aciduria and homocystinuria type cblE
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005568	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	561909	\N	\N	EFO	2	EFO	disease	methylmalonic aciduria and homocystinuria type cblE
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005568	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	1143540	\N	\N	EFO	3	EFO	disposition	methylmalonic aciduria and homocystinuria type cblE
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005568	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	2026210	\N	\N	EFO	4	EFO	material property	methylmalonic aciduria and homocystinuria type cblE
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005568	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	3178469	\N	\N	EFO	5	EFO	experimental factor	methylmalonic aciduria and homocystinuria type cblE
EFO:0005569	\N	\N	"An eye disease where one or both eyeballs are abnormally small." []	EFO:0005569	"An eye disease where one or both eyeballs are abnormally small." []	67270	\N	\N	EFO	0	EFO	microphthalmia	microphthalmia
EFO:0003966	EFO:0005569	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0005569	"An eye disease where one or both eyeballs are abnormally small." []	208750	\N	\N	EFO	1	EFO	eye disease	microphthalmia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005569	"An eye disease where one or both eyeballs are abnormally small." []	561910	\N	\N	EFO	2	EFO	disease	microphthalmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005569	"An eye disease where one or both eyeballs are abnormally small." []	1143541	\N	\N	EFO	3	EFO	disposition	microphthalmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005569	"An eye disease where one or both eyeballs are abnormally small." []	2026211	\N	\N	EFO	4	EFO	material property	microphthalmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005569	"An eye disease where one or both eyeballs are abnormally small." []	3178470	\N	\N	EFO	5	EFO	experimental factor	microphthalmia
EFO:0005570	\N	\N	"A gastrointestinal system cancer that is located_in the oral cavity." []	EFO:0005570	"A gastrointestinal system cancer that is located_in the oral cavity." []	67271	\N	\N	EFO	0	EFO	oral cavity cancer	oral cavity cancer
EFO:0000311	EFO:0005570	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005570	"A gastrointestinal system cancer that is located_in the oral cavity." []	208751	\N	\N	EFO	1	EFO	cancer	oral cavity cancer
EFO:0005950	EFO:0005570	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0005570	"A gastrointestinal system cancer that is located_in the oral cavity." []	208752	\N	\N	EFO	1	EFO	head and neck neoplasia	oral cavity cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005570	"A gastrointestinal system cancer that is located_in the oral cavity." []	561911	\N	\N	EFO	2	EFO	neoplasm	oral cavity cancer
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0005570	"A gastrointestinal system cancer that is located_in the oral cavity." []	561912	\N	\N	EFO	2	EFO	head disease	oral cavity cancer
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005570	"A gastrointestinal system cancer that is located_in the oral cavity." []	561913	\N	\N	EFO	2	EFO	neoplasm	oral cavity cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005570	"A gastrointestinal system cancer that is located_in the oral cavity." []	1143542	\N	\N	EFO	3	EFO	disease	oral cavity cancer
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005570	"A gastrointestinal system cancer that is located_in the oral cavity." []	1143543	\N	\N	EFO	3	EFO	disease	oral cavity cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005570	"A gastrointestinal system cancer that is located_in the oral cavity." []	2026212	\N	\N	EFO	4	EFO	disposition	oral cavity cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005570	"A gastrointestinal system cancer that is located_in the oral cavity." []	3178471	\N	\N	EFO	5	EFO	material property	oral cavity cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005570	"A gastrointestinal system cancer that is located_in the oral cavity." []	4388245	\N	\N	EFO	6	EFO	experimental factor	oral cavity cancer
EFO:0005571	\N	\N	"A bone development disease that results_in defective development of cartilage or bone." []	EFO:0005571	"A bone development disease that results_in defective development of cartilage or bone." []	67272	\N	\N	EFO	0	EFO	osteochondrodysplasia	osteochondrodysplasia
EFO:0005541	EFO:0005571	\N	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	EFO:0005571	"A bone development disease that results_in defective development of cartilage or bone." []	208753	\N	\N	EFO	1	EFO	bone development disease	osteochondrodysplasia
EFO:0004260	EFO:0005541	\N	"Diseases of BONES." []	EFO:0005571	"A bone development disease that results_in defective development of cartilage or bone." []	561914	\N	\N	EFO	2	EFO	bone disease	osteochondrodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0005571	"A bone development disease that results_in defective development of cartilage or bone." []	1143544	\N	\N	EFO	3	EFO	skeletal system disease	osteochondrodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005571	"A bone development disease that results_in defective development of cartilage or bone." []	2026213	\N	\N	EFO	4	EFO	disease	osteochondrodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005571	"A bone development disease that results_in defective development of cartilage or bone." []	3178472	\N	\N	EFO	5	EFO	disposition	osteochondrodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005571	"A bone development disease that results_in defective development of cartilage or bone." []	4388246	\N	\N	EFO	6	EFO	material property	osteochondrodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005571	"A bone development disease that results_in defective development of cartilage or bone." []	5408821	\N	\N	EFO	7	EFO	experimental factor	osteochondrodysplasia
EFO:0005576	\N	\N	"Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells or caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa." []	EFO:0005576	"Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells or caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa." []	67273	\N	\N	EFO	0	EFO	pernicious anemia	pernicious anemia
EFO:0000319	EFO:0005576	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005576	"Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells or caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa." []	208754	\N	\N	EFO	1	EFO	cardiovascular disease	pernicious anemia
EFO:0001069	EFO:0005576	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:0005576	"Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells or caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa." []	208755	\N	\N	EFO	1	EFO	nutritional disorder	pernicious anemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005576	"Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells or caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa." []	561915	\N	\N	EFO	2	EFO	disease	pernicious anemia
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0005576	"Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells or caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa." []	561916	\N	\N	EFO	2	EFO	metabolic disease	pernicious anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005576	"Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells or caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa." []	2026215	\N	\N	EFO	4	EFO	disposition	pernicious anemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005576	"Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells or caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa." []	1143546	\N	\N	EFO	3	EFO	disease	pernicious anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005576	"Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells or caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa." []	2999655	\N	\N	EFO	5	EFO	material property	pernicious anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005576	"Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells or caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa." []	4132680	\N	\N	EFO	6	EFO	experimental factor	pernicious anemia
EFO:0005577	\N	\N	"A primary or metastatic malignant neoplasm that affects the pharynx." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	67274	\N	\N	EFO	0	EFO	pharynx cancer	pharynx cancer
EFO:0000311	EFO:0005577	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	208756	\N	\N	EFO	1	EFO	cancer	pharynx cancer
EFO:0000405	EFO:0005577	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	208757	\N	\N	EFO	1	EFO	digestive system disease	pharynx cancer
EFO:0003853	EFO:0005577	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	208758	\N	\N	EFO	1	EFO	respiratory system neoplasm	pharynx cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	561917	\N	\N	EFO	2	EFO	neoplasm	pharynx cancer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	561918	\N	\N	EFO	2	EFO	disease	pharynx cancer
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	561919	\N	\N	EFO	2	EFO	neoplasm	pharynx cancer
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	561920	\N	\N	EFO	2	EFO	respiratory system disease	pharynx cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	1143547	\N	\N	EFO	3	EFO	disease	pharynx cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	2026216	\N	\N	EFO	4	EFO	disposition	pharynx cancer
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	1143549	\N	\N	EFO	3	EFO	disease	pharynx cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	2999656	\N	\N	EFO	5	EFO	material property	pharynx cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005577	"A primary or metastatic malignant neoplasm that affects the pharynx." []	4132681	\N	\N	EFO	6	EFO	experimental factor	pharynx cancer
EFO:0005578	\N	\N	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	67275	\N	\N	EFO	0	EFO	pituitary cancer	pituitary cancer
EFO:0003769	EFO:0005578	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	208759	\N	\N	EFO	1	EFO	endocrine neoplasm	pituitary cancer
EFO:0003833	EFO:0005578	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	208760	\N	\N	EFO	1	EFO	brain neoplasm	pituitary cancer
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	561921	\N	\N	EFO	2	EFO	neoplasm	pituitary cancer
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	561922	\N	\N	EFO	2	EFO	endocrine system disease	pituitary cancer
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	561923	\N	\N	EFO	2	EFO	neoplasm	pituitary cancer
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	561924	\N	\N	EFO	2	EFO	brain disease	pituitary cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	1143550	\N	\N	EFO	3	EFO	disease	pituitary cancer
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	1143551	\N	\N	EFO	3	EFO	disease	pituitary cancer
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	1143552	\N	\N	EFO	3	EFO	nervous system disease	pituitary cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	3178476	\N	\N	EFO	5	EFO	disposition	pituitary cancer
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	2026219	\N	\N	EFO	4	EFO	disease	pituitary cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	4132682	\N	\N	EFO	6	EFO	material property	pituitary cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005578	"An endocrine gland cancer located_in the pituitary gland located at the base of the brain." []	5180997	\N	\N	EFO	7	EFO	experimental factor	pituitary cancer
EFO:0005579	\N	\N	"Condition in which an organism is born with primary sex characteristics of one sex but develops thesecondary sex characteristics that are different from what would be expected on the basis of thegonadaltissue (ovaryortestis)." []	EFO:0005579	"Condition in which an organism is born with primary sex characteristics of one sex but develops thesecondary sex characteristics that are different from what would be expected on the basis of thegonadaltissue (ovaryortestis)." []	67276	\N	\N	EFO	0	EFO	pseudohermaphroditism	pseudohermaphroditism
EFO:0000512	EFO:0005579	\N	"any diease of the reproductive system" []	EFO:0005579	"Condition in which an organism is born with primary sex characteristics of one sex but develops thesecondary sex characteristics that are different from what would be expected on the basis of thegonadaltissue (ovaryortestis)." []	208761	\N	\N	EFO	1	EFO	reproductive system disease	pseudohermaphroditism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005579	"Condition in which an organism is born with primary sex characteristics of one sex but develops thesecondary sex characteristics that are different from what would be expected on the basis of thegonadaltissue (ovaryortestis)." []	561925	\N	\N	EFO	2	EFO	disease	pseudohermaphroditism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005579	"Condition in which an organism is born with primary sex characteristics of one sex but develops thesecondary sex characteristics that are different from what would be expected on the basis of thegonadaltissue (ovaryortestis)." []	1143553	\N	\N	EFO	3	EFO	disposition	pseudohermaphroditism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005579	"Condition in which an organism is born with primary sex characteristics of one sex but develops thesecondary sex characteristics that are different from what would be expected on the basis of thegonadaltissue (ovaryortestis)." []	2026220	\N	\N	EFO	4	EFO	material property	pseudohermaphroditism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005579	"Condition in which an organism is born with primary sex characteristics of one sex but develops thesecondary sex characteristics that are different from what would be expected on the basis of thegonadaltissue (ovaryortestis)." []	3178477	\N	\N	EFO	5	EFO	experimental factor	pseudohermaphroditism
EFO:0005580	\N	\N	"Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." []	EFO:0005580	"Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." []	67277	\N	\N	EFO	0	EFO	red color blindness	red color blindness
Orphanet:98658	EFO:0005580	\N	"" []	EFO:0005580	"Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." []	208762	\N	\N	EFO	1	EFO	Color-vision disease	red color blindness
Orphanet:98657	Orphanet:98658	\N	"" []	EFO:0005580	"Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." []	561926	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	red color blindness
Orphanet:101435	Orphanet:98657	\N	"" []	EFO:0005580	"Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." []	1143554	\N	\N	EFO	3	EFO	Rare genetic eye disease	red color blindness
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0005580	"Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." []	2026221	\N	\N	EFO	4	EFO	genetic disorder	red color blindness
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0005580	"Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." []	2026222	\N	\N	EFO	4	EFO	eye disease	red color blindness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005580	"Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." []	3178478	\N	\N	EFO	5	EFO	disease	red color blindness
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005580	"Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." []	3178479	\N	\N	EFO	5	EFO	disease	red color blindness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005580	"Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." []	4388248	\N	\N	EFO	6	EFO	disposition	red color blindness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005580	"Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." []	5408822	\N	\N	EFO	7	EFO	material property	red color blindness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005580	"Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." []	6147504	\N	\N	EFO	8	EFO	experimental factor	red color blindness
EFO:0005581	\N	\N	"Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." []	EFO:0005581	"Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." []	67278	\N	\N	EFO	0	EFO	red-green color blindness	red-green color blindness
Orphanet:98658	EFO:0005581	\N	"" []	EFO:0005581	"Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." []	208763	\N	\N	EFO	1	EFO	Color-vision disease	red-green color blindness
Orphanet:98657	Orphanet:98658	\N	"" []	EFO:0005581	"Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." []	561927	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	red-green color blindness
Orphanet:101435	Orphanet:98657	\N	"" []	EFO:0005581	"Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." []	1143555	\N	\N	EFO	3	EFO	Rare genetic eye disease	red-green color blindness
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0005581	"Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." []	2026223	\N	\N	EFO	4	EFO	genetic disorder	red-green color blindness
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0005581	"Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." []	2026224	\N	\N	EFO	4	EFO	eye disease	red-green color blindness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005581	"Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." []	3178480	\N	\N	EFO	5	EFO	disease	red-green color blindness
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005581	"Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." []	3178481	\N	\N	EFO	5	EFO	disease	red-green color blindness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005581	"Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." []	4388249	\N	\N	EFO	6	EFO	disposition	red-green color blindness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005581	"Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." []	5408823	\N	\N	EFO	7	EFO	material property	red-green color blindness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005581	"Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." []	6147505	\N	\N	EFO	8	EFO	experimental factor	red-green color blindness
EFO:0005582	\N	\N	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	67279	\N	\N	EFO	0	EFO	renal pelvis carcinoma	renal pelvis carcinoma
EFO:0002890	EFO:0005582	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	208764	\N	\N	EFO	1	EFO	renal carcinoma	renal pelvis carcinoma
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	561928	\N	\N	EFO	2	EFO	carcinoma	renal pelvis carcinoma
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	561929	\N	\N	EFO	2	EFO	kidney neoplasm	renal pelvis carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	1143556	\N	\N	EFO	3	EFO	cancer	renal pelvis carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	1143557	\N	\N	EFO	3	EFO	epithelial neoplasm	renal pelvis carcinoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	1143558	\N	\N	EFO	3	EFO	kidney disease	renal pelvis carcinoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	1143559	\N	\N	EFO	3	EFO	urogenital neoplasm	renal pelvis carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	2026225	\N	\N	EFO	4	EFO	neoplasm	renal pelvis carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	2026226	\N	\N	EFO	4	EFO	neoplasm	renal pelvis carcinoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	2026227	\N	\N	EFO	4	EFO	disease	renal pelvis carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	2026228	\N	\N	EFO	4	EFO	neoplasm	renal pelvis carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	3178482	\N	\N	EFO	5	EFO	disease	renal pelvis carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	4388250	\N	\N	EFO	6	EFO	disposition	renal pelvis carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	5180998	\N	\N	EFO	7	EFO	material property	renal pelvis carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005582	"A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." []	5996605	\N	\N	EFO	8	EFO	experimental factor	renal pelvis carcinoma
EFO:0005583	\N	\N	"A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone." []	EFO:0005583	"A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone." []	67280	\N	\N	EFO	0	EFO	rickets	rickets
EFO:0004260	EFO:0005583	\N	"Diseases of BONES." []	EFO:0005583	"A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone." []	208765	\N	\N	EFO	1	EFO	bone disease	rickets
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0005583	"A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone." []	561930	\N	\N	EFO	2	EFO	skeletal system disease	rickets
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005583	"A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone." []	1143560	\N	\N	EFO	3	EFO	disease	rickets
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005583	"A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone." []	2026229	\N	\N	EFO	4	EFO	disposition	rickets
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005583	"A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone." []	3178484	\N	\N	EFO	5	EFO	material property	rickets
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005583	"A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone." []	4388252	\N	\N	EFO	6	EFO	experimental factor	rickets
EFO:0005584	\N	\N	"seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \\"barnacles of old age\\".\\n\\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \\"pasted on\\" appearance." []	EFO:0005584	"seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \\"barnacles of old age\\".\\n\\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \\"pasted on\\" appearance." []	67281	\N	\N	EFO	0	EFO	seborrheic keratosis	seborrheic keratosis
EFO:0000701	EFO:0005584	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0005584	"seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \\"barnacles of old age\\".\\n\\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \\"pasted on\\" appearance." []	208766	\N	\N	EFO	1	EFO	skin disease	seborrheic keratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005584	"seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \\"barnacles of old age\\".\\n\\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \\"pasted on\\" appearance." []	561931	\N	\N	EFO	2	EFO	disease	seborrheic keratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005584	"seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \\"barnacles of old age\\".\\n\\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \\"pasted on\\" appearance." []	1143561	\N	\N	EFO	3	EFO	disposition	seborrheic keratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005584	"seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \\"barnacles of old age\\".\\n\\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \\"pasted on\\" appearance." []	2026230	\N	\N	EFO	4	EFO	material property	seborrheic keratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005584	"seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \\"barnacles of old age\\".\\n\\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \\"pasted on\\" appearance." []	3178485	\N	\N	EFO	5	EFO	experimental factor	seborrheic keratosis
EFO:0005585	\N	\N	"A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." []	EFO:0005585	"A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." []	67282	\N	\N	EFO	0	EFO	shigellosis	shigellosis
EFO:0000771	EFO:0005585	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0005585	"A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." []	208767	\N	\N	EFO	1	EFO	bacterial disease	shigellosis
EFO:1001869	EFO:0005585	\N	"Dysentery is a type of gastroenteritis that results in diarrhea with blood. Other symptoms may include fever, abdominal pain,[3] and a feeling of incomplete defecation.\\n\\nIt is caused by a number of types of infection such as bacteria, viruses, parasitic worms, or protozoa. The mechanism is an inflammatory disorder of the intestine, especially of the colon." []	EFO:0005585	"A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." []	208768	\N	\N	EFO	1	EFO	dysentery	shigellosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005585	"A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." []	561932	\N	\N	EFO	2	EFO	infectious disease	shigellosis
EFO:0000405	EFO:1001869	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005585	"A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." []	561933	\N	\N	EFO	2	EFO	digestive system disease	shigellosis
EFO:0005741	EFO:1001869	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005585	"A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." []	561934	\N	\N	EFO	2	EFO	infectious disease	shigellosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005585	"A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." []	1143562	\N	\N	EFO	3	EFO	disease	shigellosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005585	"A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." []	1143563	\N	\N	EFO	3	EFO	disease	shigellosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005585	"A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." []	2026231	\N	\N	EFO	4	EFO	disposition	shigellosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005585	"A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." []	3178486	\N	\N	EFO	5	EFO	material property	shigellosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005585	"A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." []	4388253	\N	\N	EFO	6	EFO	experimental factor	shigellosis
EFO:0005588	\N	\N	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	EFO:0005588	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	67283	\N	\N	EFO	0	EFO	small intestine carcinoma	small intestine carcinoma
EFO:0000313	EFO:0005588	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005588	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	208769	\N	\N	EFO	1	EFO	carcinoma	small intestine carcinoma
EFO:0000405	EFO:0005588	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005588	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	208770	\N	\N	EFO	1	EFO	digestive system disease	small intestine carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005588	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	561935	\N	\N	EFO	2	EFO	cancer	small intestine carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005588	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	561936	\N	\N	EFO	2	EFO	epithelial neoplasm	small intestine carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005588	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	561937	\N	\N	EFO	2	EFO	disease	small intestine carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005588	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	1143564	\N	\N	EFO	3	EFO	neoplasm	small intestine carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005588	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	1143565	\N	\N	EFO	3	EFO	neoplasm	small intestine carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005588	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	3178487	\N	\N	EFO	5	EFO	disposition	small intestine carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005588	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	2026232	\N	\N	EFO	4	EFO	disease	small intestine carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005588	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	4066720	\N	\N	EFO	6	EFO	material property	small intestine carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005588	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	5059358	\N	\N	EFO	7	EFO	experimental factor	small intestine carcinoma
EFO:0005590	\N	\N	"A lipid metabolism disorder that involves defects in steroid metabolism." []	EFO:0005590	"A lipid metabolism disorder that involves defects in steroid metabolism." []	67284	\N	\N	EFO	0	EFO	steroid inherited metabolic disorder	steroid inherited metabolic disorder
EFO:0000589	EFO:0005590	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0005590	"A lipid metabolism disorder that involves defects in steroid metabolism." []	208771	\N	\N	EFO	1	EFO	metabolic disease	steroid inherited metabolic disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005590	"A lipid metabolism disorder that involves defects in steroid metabolism." []	561938	\N	\N	EFO	2	EFO	disease	steroid inherited metabolic disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005590	"A lipid metabolism disorder that involves defects in steroid metabolism." []	1143567	\N	\N	EFO	3	EFO	disposition	steroid inherited metabolic disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005590	"A lipid metabolism disorder that involves defects in steroid metabolism." []	2026234	\N	\N	EFO	4	EFO	material property	steroid inherited metabolic disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005590	"A lipid metabolism disorder that involves defects in steroid metabolism." []	3178489	\N	\N	EFO	5	EFO	experimental factor	steroid inherited metabolic disorder
EFO:0005591	\N	\N	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	67285	\N	\N	EFO	0	EFO	sweat gland carcinoma	sweat gland carcinoma
EFO:0000313	EFO:0005591	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	208772	\N	\N	EFO	1	EFO	carcinoma	sweat gland carcinoma
EFO:0004198	EFO:0005591	\N	"Tumors or cancer of the SKIN." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	208773	\N	\N	EFO	1	EFO	skin neoplasm	sweat gland carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	561939	\N	\N	EFO	2	EFO	cancer	sweat gland carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	561940	\N	\N	EFO	2	EFO	epithelial neoplasm	sweat gland carcinoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	561941	\N	\N	EFO	2	EFO	neoplasm	sweat gland carcinoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	561942	\N	\N	EFO	2	EFO	skin disease	sweat gland carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	1143568	\N	\N	EFO	3	EFO	neoplasm	sweat gland carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	1143569	\N	\N	EFO	3	EFO	neoplasm	sweat gland carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	2026235	\N	\N	EFO	4	EFO	disease	sweat gland carcinoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	1143571	\N	\N	EFO	3	EFO	disease	sweat gland carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	2999657	\N	\N	EFO	5	EFO	disposition	sweat gland carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	4132683	\N	\N	EFO	6	EFO	material property	sweat gland carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005591	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	5180999	\N	\N	EFO	7	EFO	experimental factor	sweat gland carcinoma
EFO:0005592	\N	\N	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	EFO:0005592	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	67286	\N	\N	EFO	0	EFO	T-cell leukemia	T-cell leukemia
EFO:0004289	EFO:0005592	\N	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	EFO:0005592	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	208774	\N	\N	EFO	1	EFO	lymphoid leukemia	T-cell leukemia
EFO:0000565	EFO:0004289	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0005592	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	561943	\N	\N	EFO	2	EFO	leukemia	T-cell leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0005592	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	1143572	\N	\N	EFO	3	EFO	lymphoid neoplasm	T-cell leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005592	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	2026237	\N	\N	EFO	4	EFO	cancer	T-cell leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0005592	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	2026238	\N	\N	EFO	4	EFO	hematological system disease	T-cell leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005592	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	3178491	\N	\N	EFO	5	EFO	neoplasm	T-cell leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005592	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	3178492	\N	\N	EFO	5	EFO	disease	T-cell leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005592	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	4388255	\N	\N	EFO	6	EFO	disease	T-cell leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005592	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	5408825	\N	\N	EFO	7	EFO	disposition	T-cell leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005592	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	5996606	\N	\N	EFO	8	EFO	material property	T-cell leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005592	"A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" []	6550379	\N	\N	EFO	9	EFO	experimental factor	T-cell leukemia
EFO:0005593	\N	\N	"A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." []	EFO:0005593	"A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." []	67287	\N	\N	EFO	0	EFO	tetanus	tetanus
EFO:0000771	EFO:0005593	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0005593	"A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." []	208775	\N	\N	EFO	1	EFO	bacterial disease	tetanus
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005593	"A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." []	561944	\N	\N	EFO	2	EFO	infectious disease	tetanus
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005593	"A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." []	1143573	\N	\N	EFO	3	EFO	disease	tetanus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005593	"A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." []	2026239	\N	\N	EFO	4	EFO	disposition	tetanus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005593	"A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." []	3178493	\N	\N	EFO	5	EFO	material property	tetanus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005593	"A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." []	4388257	\N	\N	EFO	6	EFO	experimental factor	tetanus
EFO:0005595	\N	\N	"Toxic encephalopathy is adegenerativeneurologic disorder caused by exposure to toxic substances like organic solvents. Exposure to toxic substances can lead to a variety of symptoms, characterized by an altered mental status, memory loss, and visual problems. Toxic encephalopathy can be caused by various chemicals, some of which are commonly used in everyday life. Toxic encephalopathy can permanently damage the brain and currently, treatment is mainly just for the symptoms." []	EFO:0005595	"Toxic encephalopathy is adegenerativeneurologic disorder caused by exposure to toxic substances like organic solvents. Exposure to toxic substances can lead to a variety of symptoms, characterized by an altered mental status, memory loss, and visual problems. Toxic encephalopathy can be caused by various chemicals, some of which are commonly used in everyday life. Toxic encephalopathy can permanently damage the brain and currently, treatment is mainly just for the symptoms." []	67288	\N	\N	EFO	0	EFO	toxic encephalopathy	toxic encephalopathy
EFO:0000618	EFO:0005595	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005595	"Toxic encephalopathy is adegenerativeneurologic disorder caused by exposure to toxic substances like organic solvents. Exposure to toxic substances can lead to a variety of symptoms, characterized by an altered mental status, memory loss, and visual problems. Toxic encephalopathy can be caused by various chemicals, some of which are commonly used in everyday life. Toxic encephalopathy can permanently damage the brain and currently, treatment is mainly just for the symptoms." []	208776	\N	\N	EFO	1	EFO	nervous system disease	toxic encephalopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005595	"Toxic encephalopathy is adegenerativeneurologic disorder caused by exposure to toxic substances like organic solvents. Exposure to toxic substances can lead to a variety of symptoms, characterized by an altered mental status, memory loss, and visual problems. Toxic encephalopathy can be caused by various chemicals, some of which are commonly used in everyday life. Toxic encephalopathy can permanently damage the brain and currently, treatment is mainly just for the symptoms." []	561945	\N	\N	EFO	2	EFO	disease	toxic encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005595	"Toxic encephalopathy is adegenerativeneurologic disorder caused by exposure to toxic substances like organic solvents. Exposure to toxic substances can lead to a variety of symptoms, characterized by an altered mental status, memory loss, and visual problems. Toxic encephalopathy can be caused by various chemicals, some of which are commonly used in everyday life. Toxic encephalopathy can permanently damage the brain and currently, treatment is mainly just for the symptoms." []	1143574	\N	\N	EFO	3	EFO	disposition	toxic encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005595	"Toxic encephalopathy is adegenerativeneurologic disorder caused by exposure to toxic substances like organic solvents. Exposure to toxic substances can lead to a variety of symptoms, characterized by an altered mental status, memory loss, and visual problems. Toxic encephalopathy can be caused by various chemicals, some of which are commonly used in everyday life. Toxic encephalopathy can permanently damage the brain and currently, treatment is mainly just for the symptoms." []	2026240	\N	\N	EFO	4	EFO	material property	toxic encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005595	"Toxic encephalopathy is adegenerativeneurologic disorder caused by exposure to toxic substances like organic solvents. Exposure to toxic substances can lead to a variety of symptoms, characterized by an altered mental status, memory loss, and visual problems. Toxic encephalopathy can be caused by various chemicals, some of which are commonly used in everyday life. Toxic encephalopathy can permanently damage the brain and currently, treatment is mainly just for the symptoms." []	3178494	\N	\N	EFO	5	EFO	experimental factor	toxic encephalopathy
EFO:0005596	\N	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	EFO:0005596	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	67289	\N	\N	EFO	0	EFO	vitamin metabolic disorder	vitamin metabolic disorder
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0005596	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	208777	\N	\N	EFO	1	EFO	metabolic disease	vitamin metabolic disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005596	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	561946	\N	\N	EFO	2	EFO	disease	vitamin metabolic disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005596	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	1143575	\N	\N	EFO	3	EFO	disposition	vitamin metabolic disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005596	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	2026241	\N	\N	EFO	4	EFO	material property	vitamin metabolic disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005596	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	3178495	\N	\N	EFO	5	EFO	experimental factor	vitamin metabolic disorder
EFO:0005597	\N	\N	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	EFO:0005597	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	67290	\N	\N	EFO	0	EFO	methylmalonic aciduria and homocystinuria type cblG	methylmalonic aciduria and homocystinuria type cblG
EFO:0000508	EFO:0005597	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0005597	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	208778	\N	\N	EFO	1	EFO	genetic disorder	methylmalonic aciduria and homocystinuria type cblG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005597	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	561947	\N	\N	EFO	2	EFO	disease	methylmalonic aciduria and homocystinuria type cblG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005597	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	1143576	\N	\N	EFO	3	EFO	disposition	methylmalonic aciduria and homocystinuria type cblG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005597	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	2026242	\N	\N	EFO	4	EFO	material property	methylmalonic aciduria and homocystinuria type cblG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005597	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures." []	3178496	\N	\N	EFO	5	EFO	experimental factor	methylmalonic aciduria and homocystinuria type cblG
EFO:0005600	\N	\N	"A fatty streak is the first grossly visible (visible to the naked eye) lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages located beneath[ambiguous] the inner, endothelial layer of an artery. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. It is the precursor lesion of atheromas that may become atheromatous plaques" []	EFO:0005600	"A fatty streak is the first grossly visible (visible to the naked eye) lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages located beneath[ambiguous] the inner, endothelial layer of an artery. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. It is the precursor lesion of atheromas that may become atheromatous plaques" []	67291	\N	\N	EFO	0	EFO	abdominal aortic fatty streak	abdominal aortic fatty streak
HP:0001679	\N	\N	"An abnormality of the aorta." [HPO:probinson, PMID:24910511]	EFO:0005600	"A fatty streak is the first grossly visible (visible to the naked eye) lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages located beneath[ambiguous] the inner, endothelial layer of an artery. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. It is the precursor lesion of atheromas that may become atheromatous plaques" []	194742	\N	\N	EFO	0	EFO	Abnormal aortic morphology	abdominal aortic fatty streak
EFO:0005601	\N	\N	"An atherosclerotic abnormality of the abdominal aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions." []	EFO:0005601	"An atherosclerotic abnormality of the abdominal aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions." []	67292	\N	\N	EFO	0	EFO	abdominal aortic raised atherosclerotic lesion	abdominal aortic raised atherosclerotic lesion
HP:0001679	\N	\N	"An abnormality of the aorta." [HPO:probinson, PMID:24910511]	EFO:0005601	"An atherosclerotic abnormality of the abdominal aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions." []	194743	\N	\N	EFO	0	EFO	Abnormal aortic morphology	abdominal aortic raised atherosclerotic lesion
EFO:0005602	\N	\N	"" []	EFO:0005602	"" []	67293	\N	\N	EFO	0	EFO	age at alcohol diagnosis	age at alcohol diagnosis
EFO:0004918	EFO:0005602	\N	"The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer." []	EFO:0005602	"" []	208779	\N	\N	EFO	1	EFO	age at diagnosis	age at alcohol diagnosis
EFO:0004949	EFO:0004918	\N	"A temporal measurement related to disease progression" []	EFO:0005602	"" []	561948	\N	\N	EFO	2	EFO	clinical temporal measurement	age at alcohol diagnosis
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0005602	"" []	1143577	\N	\N	EFO	3	EFO	temporal measurement	age at alcohol diagnosis
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005602	"" []	2026243	\N	\N	EFO	4	EFO	measurement	age at alcohol diagnosis
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005602	"" []	3178497	\N	\N	EFO	5	EFO	information entity	age at alcohol diagnosis
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005602	"" []	4388258	\N	\N	EFO	6	EFO	experimental factor	age at alcohol diagnosis
EFO:0005603	\N	\N	"" []	EFO:0005603	"" []	67294	\N	\N	EFO	0	EFO	age at breast cancer diagnosis	age at breast cancer diagnosis
EFO:0004918	EFO:0005603	\N	"The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer." []	EFO:0005603	"" []	208780	\N	\N	EFO	1	EFO	age at diagnosis	age at breast cancer diagnosis
EFO:0004949	EFO:0004918	\N	"A temporal measurement related to disease progression" []	EFO:0005603	"" []	561949	\N	\N	EFO	2	EFO	clinical temporal measurement	age at breast cancer diagnosis
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0005603	"" []	1143578	\N	\N	EFO	3	EFO	temporal measurement	age at breast cancer diagnosis
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005603	"" []	2026244	\N	\N	EFO	4	EFO	measurement	age at breast cancer diagnosis
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005603	"" []	3178498	\N	\N	EFO	5	EFO	information entity	age at breast cancer diagnosis
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005603	"" []	4388259	\N	\N	EFO	6	EFO	experimental factor	age at breast cancer diagnosis
EFO:0005606	\N	\N	"A reported family history of breast cancer in one or more family members." []	EFO:0005606	"A reported family history of breast cancer in one or more family members." []	67295	\N	\N	EFO	0	EFO	family history of breast cancer	family history of breast cancer
EFO:0000493	EFO:0005606	\N	"Family history is a form of clinicaly history specifically about relevant aspects of genetic preconditions or family member's clinical history." []	EFO:0005606	"A reported family history of breast cancer in one or more family members." []	208781	\N	\N	EFO	1	EFO	family history	family history of breast cancer
EFO:0000352	EFO:0000493	\N	"Is an information entity about the material's (i.e., the patient's) medical record as background information relevant to the experiment." []	EFO:0005606	"A reported family history of breast cancer in one or more family members." []	561950	\N	\N	EFO	2	EFO	clinical history	family history of breast cancer
IAO:0000030	EFO:0000352	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005606	"A reported family history of breast cancer in one or more family members." []	1143579	\N	\N	EFO	3	EFO	information entity	family history of breast cancer
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005606	"A reported family history of breast cancer in one or more family members." []	2026245	\N	\N	EFO	4	EFO	experimental factor	family history of breast cancer
EFO:0005607	\N	\N	"A staging of breast cancer for example by the American Joint Committee on Cancer, stage 7, or other coding system." []	EFO:0005607	"A staging of breast cancer for example by the American Joint Committee on Cancer, stage 7, or other coding system." []	67296	\N	\N	EFO	0	EFO	breast cancer stage	breast cancer stage
EFO:0000410	EFO:0005607	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0005607	"A staging of breast cancer for example by the American Joint Committee on Cancer, stage 7, or other coding system." []	208782	\N	\N	EFO	1	EFO	disease staging	breast cancer stage
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005607	"A staging of breast cancer for example by the American Joint Committee on Cancer, stage 7, or other coding system." []	561951	\N	\N	EFO	2	EFO	disposition	breast cancer stage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005607	"A staging of breast cancer for example by the American Joint Committee on Cancer, stage 7, or other coding system." []	1143580	\N	\N	EFO	3	EFO	material property	breast cancer stage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005607	"A staging of breast cancer for example by the American Joint Committee on Cancer, stage 7, or other coding system." []	2026246	\N	\N	EFO	4	EFO	experimental factor	breast cancer stage
EFO:0005608	\N	\N	"A measure of cortical opacity used in the diagnosis of cataract." []	EFO:0005608	"A measure of cortical opacity used in the diagnosis of cataract." []	67297	\N	\N	EFO	0	EFO	cortical opacity measurement	cortical opacity measurement
EFO:0004731	EFO:0005608	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0005608	"A measure of cortical opacity used in the diagnosis of cataract." []	208783	\N	\N	EFO	1	EFO	eye measurement	cortical opacity measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005608	"A measure of cortical opacity used in the diagnosis of cataract." []	561952	\N	\N	EFO	2	EFO	measurement	cortical opacity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005608	"A measure of cortical opacity used in the diagnosis of cataract." []	1143581	\N	\N	EFO	3	EFO	information entity	cortical opacity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005608	"A measure of cortical opacity used in the diagnosis of cataract." []	2026247	\N	\N	EFO	4	EFO	experimental factor	cortical opacity measurement
EFO:0005611	\N	\N	"Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" []	EFO:0005611	"Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" []	67298	\N	\N	EFO	0	EFO	opioid dependence	opioid dependence
EFO:0003890	EFO:0005611	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0005611	"Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" []	208784	\N	\N	EFO	1	EFO	drug dependence	opioid dependence
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005611	"Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" []	561953	\N	\N	EFO	2	EFO	mental or behavioural disorder	opioid dependence
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005611	"Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" []	1143582	\N	\N	EFO	3	EFO	brain disease	opioid dependence
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005611	"Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" []	2026248	\N	\N	EFO	4	EFO	nervous system disease	opioid dependence
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005611	"Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" []	3178499	\N	\N	EFO	5	EFO	disease	opioid dependence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005611	"Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" []	4388260	\N	\N	EFO	6	EFO	disposition	opioid dependence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005611	"Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" []	5408827	\N	\N	EFO	7	EFO	material property	opioid dependence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005611	"Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" []	6147507	\N	\N	EFO	8	EFO	experimental factor	opioid dependence
EFO:0005612	\N	\N	"Strong dependence, both physiological and emotional, upon morphine." []	EFO:0005612	"Strong dependence, both physiological and emotional, upon morphine." []	67299	\N	\N	EFO	0	EFO	morphine dependence	morphine dependence
EFO:0005611	EFO:0005612	\N	"Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium" []	EFO:0005612	"Strong dependence, both physiological and emotional, upon morphine." []	208785	\N	\N	EFO	1	EFO	opioid dependence	morphine dependence
EFO:0003890	EFO:0005611	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0005612	"Strong dependence, both physiological and emotional, upon morphine." []	561954	\N	\N	EFO	2	EFO	drug dependence	morphine dependence
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005612	"Strong dependence, both physiological and emotional, upon morphine." []	1143583	\N	\N	EFO	3	EFO	mental or behavioural disorder	morphine dependence
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005612	"Strong dependence, both physiological and emotional, upon morphine." []	2026249	\N	\N	EFO	4	EFO	brain disease	morphine dependence
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005612	"Strong dependence, both physiological and emotional, upon morphine." []	3178500	\N	\N	EFO	5	EFO	nervous system disease	morphine dependence
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005612	"Strong dependence, both physiological and emotional, upon morphine." []	4388261	\N	\N	EFO	6	EFO	disease	morphine dependence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005612	"Strong dependence, both physiological and emotional, upon morphine." []	5408828	\N	\N	EFO	7	EFO	disposition	morphine dependence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005612	"Strong dependence, both physiological and emotional, upon morphine." []	6147508	\N	\N	EFO	8	EFO	material property	morphine dependence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005612	"Strong dependence, both physiological and emotional, upon morphine." []	6631859	\N	\N	EFO	9	EFO	experimental factor	morphine dependence
EFO:0005615	\N	\N	"A classification of prostate cancer stage e.g. Gleason grade finding" []	EFO:0005615	"A classification of prostate cancer stage e.g. Gleason grade finding" []	67300	\N	\N	EFO	0	EFO	prostate cancer staging	prostate cancer staging
EFO:0000410	EFO:0005615	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0005615	"A classification of prostate cancer stage e.g. Gleason grade finding" []	208786	\N	\N	EFO	1	EFO	disease staging	prostate cancer staging
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005615	"A classification of prostate cancer stage e.g. Gleason grade finding" []	561955	\N	\N	EFO	2	EFO	disposition	prostate cancer staging
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005615	"A classification of prostate cancer stage e.g. Gleason grade finding" []	1143584	\N	\N	EFO	3	EFO	material property	prostate cancer staging
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005615	"A classification of prostate cancer stage e.g. Gleason grade finding" []	2026250	\N	\N	EFO	4	EFO	experimental factor	prostate cancer staging
EFO:0005616	\N	\N	"coronary artery raised lesion" []	EFO:0005616	"coronary artery raised lesion" []	67301	\N	\N	EFO	0	EFO	coronary artery raised atherosclerotic lesion	coronary artery raised atherosclerotic lesion
HP:0001626	\N	\N	"Any abnormality of the cardiovascular system." [HPO:probinson]	EFO:0005616	"coronary artery raised lesion" []	194744	\N	\N	EFO	0	EFO	Abnormality of the cardiovascular system	coronary artery raised atherosclerotic lesion
EFO:0005617	\N	\N	"A fatty streak is the first grossly visible (visible to the naked eye) lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages located beneath[ambiguous] the inner, endothelial layer of an artery. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. It is the precursor lesion of atheromas that may become atheromatous plaques" []	EFO:0005617	"A fatty streak is the first grossly visible (visible to the naked eye) lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages located beneath[ambiguous] the inner, endothelial layer of an artery. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. It is the precursor lesion of atheromas that may become atheromatous plaques" []	67302	\N	\N	EFO	0	EFO	thoracic aortic fatty streak	thoracic aortic fatty streak
HP:0001679	\N	\N	"An abnormality of the aorta." [HPO:probinson, PMID:24910511]	EFO:0005617	"A fatty streak is the first grossly visible (visible to the naked eye) lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages located beneath[ambiguous] the inner, endothelial layer of an artery. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. It is the precursor lesion of atheromas that may become atheromatous plaques" []	194745	\N	\N	EFO	0	EFO	Abnormal aortic morphology	thoracic aortic fatty streak
EFO:0005618	\N	\N	"An atherosclerotic abnormality of the thoracic aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions." []	EFO:0005618	"An atherosclerotic abnormality of the thoracic aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions." []	67303	\N	\N	EFO	0	EFO	thoracic aortic raised atherosclerotic lesion	thoracic aortic raised atherosclerotic lesion
HP:0001679	\N	\N	"An abnormality of the aorta." [HPO:probinson, PMID:24910511]	EFO:0005618	"An atherosclerotic abnormality of the thoracic aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions." []	194746	\N	\N	EFO	0	EFO	Abnormal aortic morphology	thoracic aortic raised atherosclerotic lesion
EFO:0005620	\N	\N	"" []	EFO:0005620	"" []	67304	\N	\N	EFO	0	EFO	lung adenocarcinoma grade	lung adenocarcinoma grade
OBI:0600002	EFO:0005620	\N	"Determination of the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus." []	EFO:0005620	"" []	208787	\N	\N	EFO	1	EFO	tumor grading	lung adenocarcinoma grade
EFO:0000410	OBI:0600002	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0005620	"" []	561956	\N	\N	EFO	2	EFO	disease staging	lung adenocarcinoma grade
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005620	"" []	1143585	\N	\N	EFO	3	EFO	disposition	lung adenocarcinoma grade
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005620	"" []	2026251	\N	\N	EFO	4	EFO	material property	lung adenocarcinoma grade
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005620	"" []	3178501	\N	\N	EFO	5	EFO	experimental factor	lung adenocarcinoma grade
EFO:0005622	\N	\N	"Crohn's colitis is a type of Crohn's disease that affects the large intestine." []	EFO:0005622	"Crohn's colitis is a type of Crohn's disease that affects the large intestine." []	67305	\N	\N	EFO	0	EFO	Crohn's colitis	Crohn's colitis
EFO:0000384	EFO:0005622	\N	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	EFO:0005622	"Crohn's colitis is a type of Crohn's disease that affects the large intestine." []	208788	\N	\N	EFO	1	EFO	Crohn's disease	Crohn's colitis
EFO:0003767	EFO:0000384	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:0005622	"Crohn's colitis is a type of Crohn's disease that affects the large intestine." []	561957	\N	\N	EFO	2	EFO	inflammatory bowel disease	Crohn's colitis
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005622	"Crohn's colitis is a type of Crohn's disease that affects the large intestine." []	1143586	\N	\N	EFO	3	EFO	digestive system disease	Crohn's colitis
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005622	"Crohn's colitis is a type of Crohn's disease that affects the large intestine." []	1143587	\N	\N	EFO	3	EFO	autoimmune disease	Crohn's colitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005622	"Crohn's colitis is a type of Crohn's disease that affects the large intestine." []	2026252	\N	\N	EFO	4	EFO	disease	Crohn's colitis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005622	"Crohn's colitis is a type of Crohn's disease that affects the large intestine." []	2026253	\N	\N	EFO	4	EFO	immune system disease	Crohn's colitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005622	"Crohn's colitis is a type of Crohn's disease that affects the large intestine." []	4388263	\N	\N	EFO	6	EFO	disposition	Crohn's colitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005622	"Crohn's colitis is a type of Crohn's disease that affects the large intestine." []	3178503	\N	\N	EFO	5	EFO	disease	Crohn's colitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005622	"Crohn's colitis is a type of Crohn's disease that affects the large intestine." []	5181000	\N	\N	EFO	7	EFO	material property	Crohn's colitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005622	"Crohn's colitis is a type of Crohn's disease that affects the large intestine." []	5996607	\N	\N	EFO	8	EFO	experimental factor	Crohn's colitis
EFO:0005623	\N	\N	"Particular variety of ulcerative colitis where only the left half of the colon is inflamed." []	EFO:0005623	"Particular variety of ulcerative colitis where only the left half of the colon is inflamed." []	67306	\N	\N	EFO	0	EFO	distal colitis	distal colitis
EFO:0000729	EFO:0005623	\N	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	EFO:0005623	"Particular variety of ulcerative colitis where only the left half of the colon is inflamed." []	208789	\N	\N	EFO	1	EFO	ulcerative colitis	distal colitis
EFO:0003767	EFO:0000729	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:0005623	"Particular variety of ulcerative colitis where only the left half of the colon is inflamed." []	561958	\N	\N	EFO	2	EFO	inflammatory bowel disease	distal colitis
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005623	"Particular variety of ulcerative colitis where only the left half of the colon is inflamed." []	1143588	\N	\N	EFO	3	EFO	digestive system disease	distal colitis
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005623	"Particular variety of ulcerative colitis where only the left half of the colon is inflamed." []	1143589	\N	\N	EFO	3	EFO	autoimmune disease	distal colitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005623	"Particular variety of ulcerative colitis where only the left half of the colon is inflamed." []	2026254	\N	\N	EFO	4	EFO	disease	distal colitis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005623	"Particular variety of ulcerative colitis where only the left half of the colon is inflamed." []	2026255	\N	\N	EFO	4	EFO	immune system disease	distal colitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005623	"Particular variety of ulcerative colitis where only the left half of the colon is inflamed." []	4388265	\N	\N	EFO	6	EFO	disposition	distal colitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005623	"Particular variety of ulcerative colitis where only the left half of the colon is inflamed." []	3178505	\N	\N	EFO	5	EFO	disease	distal colitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005623	"Particular variety of ulcerative colitis where only the left half of the colon is inflamed." []	5181001	\N	\N	EFO	7	EFO	material property	distal colitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005623	"Particular variety of ulcerative colitis where only the left half of the colon is inflamed." []	5996608	\N	\N	EFO	8	EFO	experimental factor	distal colitis
EFO:0005624	\N	\N	"Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " []	EFO:0005624	"Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " []	67307	\N	\N	EFO	0	EFO	ileocolitis	ileocolitis
EFO:0000384	EFO:0005624	\N	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	EFO:0005624	"Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " []	208790	\N	\N	EFO	1	EFO	Crohn's disease	ileocolitis
EFO:0003767	EFO:0000384	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:0005624	"Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " []	561959	\N	\N	EFO	2	EFO	inflammatory bowel disease	ileocolitis
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005624	"Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " []	1143590	\N	\N	EFO	3	EFO	digestive system disease	ileocolitis
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005624	"Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " []	1143591	\N	\N	EFO	3	EFO	autoimmune disease	ileocolitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005624	"Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " []	2026256	\N	\N	EFO	4	EFO	disease	ileocolitis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005624	"Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " []	2026257	\N	\N	EFO	4	EFO	immune system disease	ileocolitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005624	"Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " []	4388267	\N	\N	EFO	6	EFO	disposition	ileocolitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005624	"Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " []	3178507	\N	\N	EFO	5	EFO	disease	ileocolitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005624	"Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " []	5181002	\N	\N	EFO	7	EFO	material property	ileocolitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005624	"Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. " []	5996609	\N	\N	EFO	8	EFO	experimental factor	ileocolitis
EFO:0005625	\N	\N	"Crohn's disease affecting the mouth." []	EFO:0005625	"Crohn's disease affecting the mouth." []	67308	\N	\N	EFO	0	EFO	oral Crohn's disease	oral Crohn's disease
EFO:0000384	EFO:0005625	\N	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	EFO:0005625	"Crohn's disease affecting the mouth." []	208791	\N	\N	EFO	1	EFO	Crohn's disease	oral Crohn's disease
EFO:1001047	EFO:0005625	\N	"Any disease of the oral cavity" []	EFO:0005625	"Crohn's disease affecting the mouth." []	208792	\N	\N	EFO	1	EFO	mouth disease	oral Crohn's disease
EFO:0003767	EFO:0000384	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:0005625	"Crohn's disease affecting the mouth." []	561960	\N	\N	EFO	2	EFO	inflammatory bowel disease	oral Crohn's disease
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005625	"Crohn's disease affecting the mouth." []	561961	\N	\N	EFO	2	EFO	digestive system disease	oral Crohn's disease
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0005625	"Crohn's disease affecting the mouth." []	561962	\N	\N	EFO	2	EFO	head disease	oral Crohn's disease
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005625	"Crohn's disease affecting the mouth." []	1143592	\N	\N	EFO	3	EFO	digestive system disease	oral Crohn's disease
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005625	"Crohn's disease affecting the mouth." []	1143593	\N	\N	EFO	3	EFO	autoimmune disease	oral Crohn's disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005625	"Crohn's disease affecting the mouth." []	2026258	\N	\N	EFO	4	EFO	disease	oral Crohn's disease
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005625	"Crohn's disease affecting the mouth." []	1143595	\N	\N	EFO	3	EFO	disease	oral Crohn's disease
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005625	"Crohn's disease affecting the mouth." []	2026259	\N	\N	EFO	4	EFO	immune system disease	oral Crohn's disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005625	"Crohn's disease affecting the mouth." []	4388268	\N	\N	EFO	6	EFO	disposition	oral Crohn's disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005625	"Crohn's disease affecting the mouth." []	3178508	\N	\N	EFO	5	EFO	disease	oral Crohn's disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005625	"Crohn's disease affecting the mouth." []	5059359	\N	\N	EFO	7	EFO	material property	oral Crohn's disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005625	"Crohn's disease affecting the mouth." []	5876537	\N	\N	EFO	8	EFO	experimental factor	oral Crohn's disease
EFO:0005626	\N	\N	"Pancolitis is a severe form of ulcerative colitis." []	EFO:0005626	"Pancolitis is a severe form of ulcerative colitis." []	67309	\N	\N	EFO	0	EFO	pancolitis	pancolitis
EFO:0000729	EFO:0005626	\N	"Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN." []	EFO:0005626	"Pancolitis is a severe form of ulcerative colitis." []	208793	\N	\N	EFO	1	EFO	ulcerative colitis	pancolitis
EFO:0003767	EFO:0000729	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:0005626	"Pancolitis is a severe form of ulcerative colitis." []	561963	\N	\N	EFO	2	EFO	inflammatory bowel disease	pancolitis
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005626	"Pancolitis is a severe form of ulcerative colitis." []	1143596	\N	\N	EFO	3	EFO	digestive system disease	pancolitis
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005626	"Pancolitis is a severe form of ulcerative colitis." []	1143597	\N	\N	EFO	3	EFO	autoimmune disease	pancolitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005626	"Pancolitis is a severe form of ulcerative colitis." []	2026261	\N	\N	EFO	4	EFO	disease	pancolitis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005626	"Pancolitis is a severe form of ulcerative colitis." []	2026262	\N	\N	EFO	4	EFO	immune system disease	pancolitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005626	"Pancolitis is a severe form of ulcerative colitis." []	4388271	\N	\N	EFO	6	EFO	disposition	pancolitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005626	"Pancolitis is a severe form of ulcerative colitis." []	3178511	\N	\N	EFO	5	EFO	disease	pancolitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005626	"Pancolitis is a severe form of ulcerative colitis." []	5181004	\N	\N	EFO	7	EFO	material property	pancolitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005626	"Pancolitis is a severe form of ulcerative colitis." []	5996610	\N	\N	EFO	8	EFO	experimental factor	pancolitis
EFO:0005627	\N	\N	"Perianal Crohn's disease is a type of Crohn's disease affecting the anus." []	EFO:0005627	"Perianal Crohn's disease is a type of Crohn's disease affecting the anus." []	67310	\N	\N	EFO	0	EFO	perianal Crohn's disease	perianal Crohn's disease
EFO:0000384	EFO:0005627	\N	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	EFO:0005627	"Perianal Crohn's disease is a type of Crohn's disease affecting the anus." []	208794	\N	\N	EFO	1	EFO	Crohn's disease	perianal Crohn's disease
EFO:0003767	EFO:0000384	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:0005627	"Perianal Crohn's disease is a type of Crohn's disease affecting the anus." []	561964	\N	\N	EFO	2	EFO	inflammatory bowel disease	perianal Crohn's disease
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005627	"Perianal Crohn's disease is a type of Crohn's disease affecting the anus." []	1143598	\N	\N	EFO	3	EFO	digestive system disease	perianal Crohn's disease
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005627	"Perianal Crohn's disease is a type of Crohn's disease affecting the anus." []	1143599	\N	\N	EFO	3	EFO	autoimmune disease	perianal Crohn's disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005627	"Perianal Crohn's disease is a type of Crohn's disease affecting the anus." []	2026263	\N	\N	EFO	4	EFO	disease	perianal Crohn's disease
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005627	"Perianal Crohn's disease is a type of Crohn's disease affecting the anus." []	2026264	\N	\N	EFO	4	EFO	immune system disease	perianal Crohn's disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005627	"Perianal Crohn's disease is a type of Crohn's disease affecting the anus." []	4388273	\N	\N	EFO	6	EFO	disposition	perianal Crohn's disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005627	"Perianal Crohn's disease is a type of Crohn's disease affecting the anus." []	3178513	\N	\N	EFO	5	EFO	disease	perianal Crohn's disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005627	"Perianal Crohn's disease is a type of Crohn's disease affecting the anus." []	5181005	\N	\N	EFO	7	EFO	material property	perianal Crohn's disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005627	"Perianal Crohn's disease is a type of Crohn's disease affecting the anus." []	5996611	\N	\N	EFO	8	EFO	experimental factor	perianal Crohn's disease
EFO:0005628	\N	\N	"Proctitis is an inflammation of the rectum." []	EFO:0005628	"Proctitis is an inflammation of the rectum." []	67311	\N	\N	EFO	0	EFO	proctitis	proctitis
EFO:0003767	EFO:0005628	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:0005628	"Proctitis is an inflammation of the rectum." []	208795	\N	\N	EFO	1	EFO	inflammatory bowel disease	proctitis
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005628	"Proctitis is an inflammation of the rectum." []	561965	\N	\N	EFO	2	EFO	digestive system disease	proctitis
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005628	"Proctitis is an inflammation of the rectum." []	561966	\N	\N	EFO	2	EFO	autoimmune disease	proctitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005628	"Proctitis is an inflammation of the rectum." []	1143600	\N	\N	EFO	3	EFO	disease	proctitis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005628	"Proctitis is an inflammation of the rectum." []	1143601	\N	\N	EFO	3	EFO	immune system disease	proctitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005628	"Proctitis is an inflammation of the rectum." []	3178515	\N	\N	EFO	5	EFO	disposition	proctitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005628	"Proctitis is an inflammation of the rectum." []	2026266	\N	\N	EFO	4	EFO	disease	proctitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005628	"Proctitis is an inflammation of the rectum." []	4132685	\N	\N	EFO	6	EFO	material property	proctitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005628	"Proctitis is an inflammation of the rectum." []	5181006	\N	\N	EFO	7	EFO	experimental factor	proctitis
EFO:0005629	\N	\N	"Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." []	EFO:0005629	"Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." []	67312	\N	\N	EFO	0	EFO	small bowel Crohn's disease	small bowel Crohn's disease
EFO:0000384	EFO:0005629	\N	"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients." []	EFO:0005629	"Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." []	208796	\N	\N	EFO	1	EFO	Crohn's disease	small bowel Crohn's disease
EFO:0003767	EFO:0000384	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:0005629	"Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." []	561967	\N	\N	EFO	2	EFO	inflammatory bowel disease	small bowel Crohn's disease
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005629	"Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." []	1143602	\N	\N	EFO	3	EFO	digestive system disease	small bowel Crohn's disease
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005629	"Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." []	1143603	\N	\N	EFO	3	EFO	autoimmune disease	small bowel Crohn's disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005629	"Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." []	2026267	\N	\N	EFO	4	EFO	disease	small bowel Crohn's disease
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005629	"Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." []	2026268	\N	\N	EFO	4	EFO	immune system disease	small bowel Crohn's disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005629	"Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." []	4388276	\N	\N	EFO	6	EFO	disposition	small bowel Crohn's disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005629	"Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." []	3178517	\N	\N	EFO	5	EFO	disease	small bowel Crohn's disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005629	"Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." []	5181007	\N	\N	EFO	7	EFO	material property	small bowel Crohn's disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005629	"Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine." []	5996612	\N	\N	EFO	8	EFO	experimental factor	small bowel Crohn's disease
EFO:0005630	\N	\N	"CEL data file format describes the format used in a CEL file for storing the results of the intensity calculations on the pixel values of a DAT file. This includes an intensity value, standard deviation of the intensity, the number of pixels used to calculate the intensity value, a flag to indicate an outlier as calculated by the algorithm and a user defined flag indicating the feature should be excluded from future analysis. The file stores the previously stated data for each feature on the probe array." []	EFO:0005630	"CEL data file format describes the format used in a CEL file for storing the results of the intensity calculations on the pixel values of a DAT file. This includes an intensity value, standard deviation of the intensity, the number of pixels used to calculate the intensity value, a flag to indicate an outlier as calculated by the algorithm and a user defined flag indicating the feature should be excluded from future analysis. The file stores the previously stated data for each feature on the probe array." []	67313	\N	\N	EFO	0	EFO	CEL data file format	CEL data file format
EFO:0004103	EFO:0005630	\N	"Sequencing file type permitted in Atlas" []	EFO:0005630	"CEL data file format describes the format used in a CEL file for storing the results of the intensity calculations on the pixel values of a DAT file. This includes an intensity value, standard deviation of the intensity, the number of pixels used to calculate the intensity value, a flag to indicate an outlier as calculated by the algorithm and a user defined flag indicating the feature should be excluded from future analysis. The file stores the previously stated data for each feature on the probe array." []	208797	\N	\N	EFO	1	EFO	seq file type	CEL data file format
IAO:0000098	EFO:0004103	\N	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	EFO:0005630	"CEL data file format describes the format used in a CEL file for storing the results of the intensity calculations on the pixel values of a DAT file. This includes an intensity value, standard deviation of the intensity, the number of pixels used to calculate the intensity value, a flag to indicate an outlier as calculated by the algorithm and a user defined flag indicating the feature should be excluded from future analysis. The file stores the previously stated data for each feature on the probe array." []	561968	\N	\N	EFO	2	EFO	data format specification	CEL data file format
IAO:0000030	IAO:0000098	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005630	"CEL data file format describes the format used in a CEL file for storing the results of the intensity calculations on the pixel values of a DAT file. This includes an intensity value, standard deviation of the intensity, the number of pixels used to calculate the intensity value, a flag to indicate an outlier as calculated by the algorithm and a user defined flag indicating the feature should be excluded from future analysis. The file stores the previously stated data for each feature on the probe array." []	1143604	\N	\N	EFO	3	EFO	information entity	CEL data file format
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005630	"CEL data file format describes the format used in a CEL file for storing the results of the intensity calculations on the pixel values of a DAT file. This includes an intensity value, standard deviation of the intensity, the number of pixels used to calculate the intensity value, a flag to indicate an outlier as calculated by the algorithm and a user defined flag indicating the feature should be excluded from future analysis. The file stores the previously stated data for each feature on the probe array." []	2026269	\N	\N	EFO	4	EFO	experimental factor	CEL data file format
EFO:0005631	\N	\N	"An adenocarcinoma of the rectum. " []	EFO:0005631	"An adenocarcinoma of the rectum. " []	67314	\N	\N	EFO	0	EFO	rectal adenocarcinoma	rectal adenocarcinoma
EFO:0000228	EFO:0005631	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0005631	"An adenocarcinoma of the rectum. " []	208798	\N	\N	EFO	1	EFO	adenocarcinoma	rectal adenocarcinoma
EFO:0000405	EFO:0005631	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005631	"An adenocarcinoma of the rectum. " []	208799	\N	\N	EFO	1	EFO	digestive system disease	rectal adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005631	"An adenocarcinoma of the rectum. " []	561969	\N	\N	EFO	2	EFO	carcinoma	rectal adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005631	"An adenocarcinoma of the rectum. " []	561970	\N	\N	EFO	2	EFO	disease	rectal adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005631	"An adenocarcinoma of the rectum. " []	1143605	\N	\N	EFO	3	EFO	cancer	rectal adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005631	"An adenocarcinoma of the rectum. " []	1143606	\N	\N	EFO	3	EFO	epithelial neoplasm	rectal adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005631	"An adenocarcinoma of the rectum. " []	4388277	\N	\N	EFO	6	EFO	disposition	rectal adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005631	"An adenocarcinoma of the rectum. " []	2026270	\N	\N	EFO	4	EFO	neoplasm	rectal adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005631	"An adenocarcinoma of the rectum. " []	2026271	\N	\N	EFO	4	EFO	neoplasm	rectal adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005631	"An adenocarcinoma of the rectum. " []	5028341	\N	\N	EFO	7	EFO	material property	rectal adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005631	"An adenocarcinoma of the rectum. " []	3178518	\N	\N	EFO	5	EFO	disease	rectal adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005631	"An adenocarcinoma of the rectum. " []	5817372	\N	\N	EFO	8	EFO	experimental factor	rectal adenocarcinoma
EFO:0005632	\N	\N	"The presence of necrosis affecting the intestine." []	EFO:0005632	"The presence of necrosis affecting the intestine." []	67315	\N	\N	EFO	0	EFO	intestinal necrosis	intestinal necrosis
HP:0011024	\N	\N	"An abnormality of the gastrointestinal tract." [HPO:probinson]	EFO:0005632	"The presence of necrosis affecting the intestine." []	194747	\N	\N	EFO	0	EFO	Abnormality of the gastrointestinal tract	intestinal necrosis
EFO:0005633	\N	\N	"Classification of drugs affecting the alimentary tract and metabolism." []	EFO:0005633	"Classification of drugs affecting the alimentary tract and metabolism." []	67316	\N	\N	EFO	0	EFO	ATC Code A Alimentary tract and metabolism	ATC Code A Alimentary tract and metabolism
EFO:0005634	EFO:0005633	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005633	"Classification of drugs affecting the alimentary tract and metabolism." []	208800	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code A Alimentary tract and metabolism
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005633	"Classification of drugs affecting the alimentary tract and metabolism." []	561971	\N	\N	EFO	2	EFO	information entity	ATC Code A Alimentary tract and metabolism
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005633	"Classification of drugs affecting the alimentary tract and metabolism." []	1143608	\N	\N	EFO	3	EFO	experimental factor	ATC Code A Alimentary tract and metabolism
EFO:0005634	\N	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005634	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	67317	\N	\N	EFO	0	EFO	ATC Classification System	ATC Classification System
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005634	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	208801	\N	\N	EFO	1	EFO	information entity	ATC Classification System
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005634	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	561972	\N	\N	EFO	2	EFO	experimental factor	ATC Classification System
EFO:0005635	\N	\N	"Classification of drugs affecting the blood and blood forming organs of the body." []	EFO:0005635	"Classification of drugs affecting the blood and blood forming organs of the body." []	67318	\N	\N	EFO	0	EFO	ATC Code B Blood and blood forming organs	ATC Code B Blood and blood forming organs
EFO:0005634	EFO:0005635	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005635	"Classification of drugs affecting the blood and blood forming organs of the body." []	208802	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code B Blood and blood forming organs
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005635	"Classification of drugs affecting the blood and blood forming organs of the body." []	561973	\N	\N	EFO	2	EFO	information entity	ATC Code B Blood and blood forming organs
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005635	"Classification of drugs affecting the blood and blood forming organs of the body." []	1143609	\N	\N	EFO	3	EFO	experimental factor	ATC Code B Blood and blood forming organs
EFO:0005636	\N	\N	"Classification of drugs affecting the cardiovascular system." []	EFO:0005636	"Classification of drugs affecting the cardiovascular system." []	67319	\N	\N	EFO	0	EFO	ATC Code C Cardiovascular system	ATC Code C Cardiovascular system
EFO:0005634	EFO:0005636	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005636	"Classification of drugs affecting the cardiovascular system." []	208803	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code C Cardiovascular system
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005636	"Classification of drugs affecting the cardiovascular system." []	561974	\N	\N	EFO	2	EFO	information entity	ATC Code C Cardiovascular system
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005636	"Classification of drugs affecting the cardiovascular system." []	1143610	\N	\N	EFO	3	EFO	experimental factor	ATC Code C Cardiovascular system
EFO:0005637	\N	\N	"Classification of drugs affecting skin, hair and nails." []	EFO:0005637	"Classification of drugs affecting skin, hair and nails." []	67320	\N	\N	EFO	0	EFO	ATC Code D Dermatologicals	ATC Code D Dermatologicals
EFO:0005634	EFO:0005637	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005637	"Classification of drugs affecting skin, hair and nails." []	208804	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code D Dermatologicals
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005637	"Classification of drugs affecting skin, hair and nails." []	561975	\N	\N	EFO	2	EFO	information entity	ATC Code D Dermatologicals
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005637	"Classification of drugs affecting skin, hair and nails." []	1143611	\N	\N	EFO	3	EFO	experimental factor	ATC Code D Dermatologicals
EFO:0005638	\N	\N	"" []	EFO:0005638	"" []	67321	\N	\N	EFO	0	EFO	ATC Code G Genito-urinary system and sex hormones	ATC Code G Genito-urinary system and sex hormones
EFO:0004730	EFO:0005638	\N	"" []	EFO:0005638	"" []	208805	\N	\N	EFO	1	EFO	hormone measurement	ATC Code G Genito-urinary system and sex hormones
EFO:0005634	EFO:0005638	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005638	"" []	208806	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code G Genito-urinary system and sex hormones
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005638	"" []	561976	\N	\N	EFO	2	EFO	measurement	ATC Code G Genito-urinary system and sex hormones
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005638	"" []	561977	\N	\N	EFO	2	EFO	information entity	ATC Code G Genito-urinary system and sex hormones
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005638	"" []	1143612	\N	\N	EFO	3	EFO	information entity	ATC Code G Genito-urinary system and sex hormones
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005638	"" []	2026273	\N	\N	EFO	4	EFO	experimental factor	ATC Code G Genito-urinary system and sex hormones
EFO:0005639	\N	\N	"Classification of drugs affecting hormones expect for sexual hormones and insulin." []	EFO:0005639	"Classification of drugs affecting hormones expect for sexual hormones and insulin." []	67322	\N	\N	EFO	0	EFO	ATC Code H Systemic hormonal preparations, excluding sex hormones and insulins	ATC Code H Systemic hormonal preparations, excluding sex hormones and insulins
EFO:0005634	EFO:0005639	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005639	"Classification of drugs affecting hormones expect for sexual hormones and insulin." []	208807	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code H Systemic hormonal preparations, excluding sex hormones and insulins
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005639	"Classification of drugs affecting hormones expect for sexual hormones and insulin." []	561978	\N	\N	EFO	2	EFO	information entity	ATC Code H Systemic hormonal preparations, excluding sex hormones and insulins
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005639	"Classification of drugs affecting hormones expect for sexual hormones and insulin." []	1143614	\N	\N	EFO	3	EFO	experimental factor	ATC Code H Systemic hormonal preparations, excluding sex hormones and insulins
EFO:0005640	\N	\N	"" []	EFO:0005640	"" []	67323	\N	\N	EFO	0	EFO	ATC Code J Antiinfectives for systemic use	ATC Code J Antiinfectives for systemic use
EFO:0005634	EFO:0005640	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005640	"" []	208808	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code J Antiinfectives for systemic use
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005640	"" []	561979	\N	\N	EFO	2	EFO	information entity	ATC Code J Antiinfectives for systemic use
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005640	"" []	1143615	\N	\N	EFO	3	EFO	experimental factor	ATC Code J Antiinfectives for systemic use
EFO:0005641	\N	\N	"Classification of drugs comprising preparations used in the treatment of malignant neoplastic diseases, and immunomodulating agents." []	EFO:0005641	"Classification of drugs comprising preparations used in the treatment of malignant neoplastic diseases, and immunomodulating agents." []	67324	\N	\N	EFO	0	EFO	ATC Code L Antineoplastic and immunomodulating agents	ATC Code L Antineoplastic and immunomodulating agents
EFO:0005634	EFO:0005641	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005641	"Classification of drugs comprising preparations used in the treatment of malignant neoplastic diseases, and immunomodulating agents." []	208809	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code L Antineoplastic and immunomodulating agents
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005641	"Classification of drugs comprising preparations used in the treatment of malignant neoplastic diseases, and immunomodulating agents." []	561980	\N	\N	EFO	2	EFO	information entity	ATC Code L Antineoplastic and immunomodulating agents
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005641	"Classification of drugs comprising preparations used in the treatment of malignant neoplastic diseases, and immunomodulating agents." []	1143616	\N	\N	EFO	3	EFO	experimental factor	ATC Code L Antineoplastic and immunomodulating agents
EFO:0005642	\N	\N	"Classification of drugs affecting musculo-sketal system." []	EFO:0005642	"Classification of drugs affecting musculo-sketal system." []	67325	\N	\N	EFO	0	EFO	ATC Code M Musculo-skeletal system	ATC Code M Musculo-skeletal system
EFO:0005634	EFO:0005642	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005642	"Classification of drugs affecting musculo-sketal system." []	208810	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code M Musculo-skeletal system
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005642	"Classification of drugs affecting musculo-sketal system." []	561981	\N	\N	EFO	2	EFO	information entity	ATC Code M Musculo-skeletal system
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005642	"Classification of drugs affecting musculo-sketal system." []	1143617	\N	\N	EFO	3	EFO	experimental factor	ATC Code M Musculo-skeletal system
EFO:0005643	\N	\N	"Classification of drugs affecting the nervous system such as anesthetics." []	EFO:0005643	"Classification of drugs affecting the nervous system such as anesthetics." []	67326	\N	\N	EFO	0	EFO	ATC Code N Nervous system	ATC Code N Nervous system
EFO:0005634	EFO:0005643	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005643	"Classification of drugs affecting the nervous system such as anesthetics." []	208811	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code N Nervous system
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005643	"Classification of drugs affecting the nervous system such as anesthetics." []	561982	\N	\N	EFO	2	EFO	information entity	ATC Code N Nervous system
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005643	"Classification of drugs affecting the nervous system such as anesthetics." []	1143618	\N	\N	EFO	3	EFO	experimental factor	ATC Code N Nervous system
EFO:0005644	\N	\N	"" []	EFO:0005644	"" []	67327	\N	\N	EFO	0	EFO	ATC Code P Antiparasitic products, insecticides and repellents	ATC Code P Antiparasitic products, insecticides and repellents
EFO:0005634	EFO:0005644	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005644	"" []	208812	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code P Antiparasitic products, insecticides and repellents
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005644	"" []	561983	\N	\N	EFO	2	EFO	information entity	ATC Code P Antiparasitic products, insecticides and repellents
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005644	"" []	1143619	\N	\N	EFO	3	EFO	experimental factor	ATC Code P Antiparasitic products, insecticides and repellents
EFO:0005645	\N	\N	"Classification of drugs affecting the respiratory system." []	EFO:0005645	"Classification of drugs affecting the respiratory system." []	67328	\N	\N	EFO	0	EFO	ATC Code R Respiratory system	ATC Code R Respiratory system
EFO:0003892	EFO:0005645	\N	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	EFO:0005645	"Classification of drugs affecting the respiratory system." []	208813	\N	\N	EFO	1	EFO	pulmonary function measurement	ATC Code R Respiratory system
EFO:0005634	EFO:0005645	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005645	"Classification of drugs affecting the respiratory system." []	208814	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code R Respiratory system
EFO:0001444	EFO:0003892	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005645	"Classification of drugs affecting the respiratory system." []	561984	\N	\N	EFO	2	EFO	measurement	ATC Code R Respiratory system
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005645	"Classification of drugs affecting the respiratory system." []	561985	\N	\N	EFO	2	EFO	information entity	ATC Code R Respiratory system
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005645	"Classification of drugs affecting the respiratory system." []	1143620	\N	\N	EFO	3	EFO	information entity	ATC Code R Respiratory system
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005645	"Classification of drugs affecting the respiratory system." []	2026274	\N	\N	EFO	4	EFO	experimental factor	ATC Code R Respiratory system
EFO:0005646	\N	\N	"Classification of drugs affecting the sensory organs." []	EFO:0005646	"Classification of drugs affecting the sensory organs." []	67329	\N	\N	EFO	0	EFO	ATC Code S Sensory organs	ATC Code S Sensory organs
EFO:0005634	EFO:0005646	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005646	"Classification of drugs affecting the sensory organs." []	208815	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code S Sensory organs
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005646	"Classification of drugs affecting the sensory organs." []	561986	\N	\N	EFO	2	EFO	information entity	ATC Code S Sensory organs
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005646	"Classification of drugs affecting the sensory organs." []	1143622	\N	\N	EFO	3	EFO	experimental factor	ATC Code S Sensory organs
EFO:0005647	\N	\N	"classification of drugs not specified elsewhere" []	EFO:0005647	"classification of drugs not specified elsewhere" []	67330	\N	\N	EFO	0	EFO	ATC Code V Various	ATC Code V Various
EFO:0005634	EFO:0005647	\N	"The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." []	EFO:0005647	"classification of drugs not specified elsewhere" []	208816	\N	\N	EFO	1	EFO	ATC Classification System	ATC Code V Various
IAO:0000030	EFO:0005634	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005647	"classification of drugs not specified elsewhere" []	561987	\N	\N	EFO	2	EFO	information entity	ATC Code V Various
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005647	"classification of drugs not specified elsewhere" []	1143623	\N	\N	EFO	3	EFO	experimental factor	ATC Code V Various
EFO:0005648	\N	\N	"This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells." []	EFO:0005648	"This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells." []	67331	\N	\N	EFO	0	EFO	1182-4H	1182-4H
EFO:0002926	EFO:0005648	\N	"" []	EFO:0005648	"This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells." []	208817	\N	\N	EFO	1	EFO	ENCODE cell line	1182-4H
EFO:0002935	EFO:0005648	\N	"" []	EFO:0005648	"This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells." []	208818	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	1182-4H
EFO:0003040	EFO:0005648	\N	"" []	EFO:0005648	"This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells." []	208819	\N	\N	EFO	1	EFO	embryonic cell line	1182-4H
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005648	"This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells." []	561988	\N	\N	EFO	2	EFO	cell line	1182-4H
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005648	"This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells." []	561989	\N	\N	EFO	2	EFO	cell line	1182-4H
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005648	"This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells." []	561990	\N	\N	EFO	2	EFO	cell line	1182-4H
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005648	"This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells." []	1143624	\N	\N	EFO	3	EFO	material entity	1182-4H
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005648	"This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells." []	2026275	\N	\N	EFO	4	EFO	experimental factor	1182-4H
EFO:0005649	\N	\N	"A bone structure disease that involves a defect in the lumbar vertebral column." []	EFO:0005649	"A bone structure disease that involves a defect in the lumbar vertebral column." []	67332	\N	\N	EFO	0	EFO	spondylolysis	spondylolysis
EFO:0004260	EFO:0005649	\N	"Diseases of BONES." []	EFO:0005649	"A bone structure disease that involves a defect in the lumbar vertebral column." []	208820	\N	\N	EFO	1	EFO	bone disease	spondylolysis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0005649	"A bone structure disease that involves a defect in the lumbar vertebral column." []	561991	\N	\N	EFO	2	EFO	skeletal system disease	spondylolysis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005649	"A bone structure disease that involves a defect in the lumbar vertebral column." []	1143625	\N	\N	EFO	3	EFO	disease	spondylolysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005649	"A bone structure disease that involves a defect in the lumbar vertebral column." []	2026276	\N	\N	EFO	4	EFO	disposition	spondylolysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005649	"A bone structure disease that involves a defect in the lumbar vertebral column." []	3178520	\N	\N	EFO	5	EFO	material property	spondylolysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005649	"A bone structure disease that involves a defect in the lumbar vertebral column." []	4388278	\N	\N	EFO	6	EFO	experimental factor	spondylolysis
EFO:0005650	\N	\N	"Cells are from the ventral leg imaginal disc of the third instar larval stage. Transcriptome analysis suggests similarity to cells in the tibia or femur region of a leg disc (Cherbas et al., 2011)." []	EFO:0005650	"Cells are from the ventral leg imaginal disc of the third instar larval stage. Transcriptome analysis suggests similarity to cells in the tibia or femur region of a leg disc (Cherbas et al., 2011)." []	67333	\N	\N	EFO	0	EFO	CME-L1	CME-L1
EFO:0002926	EFO:0005650	\N	"" []	EFO:0005650	"Cells are from the ventral leg imaginal disc of the third instar larval stage. Transcriptome analysis suggests similarity to cells in the tibia or femur region of a leg disc (Cherbas et al., 2011)." []	208821	\N	\N	EFO	1	EFO	ENCODE cell line	CME-L1
EFO:0002935	EFO:0005650	\N	"" []	EFO:0005650	"Cells are from the ventral leg imaginal disc of the third instar larval stage. Transcriptome analysis suggests similarity to cells in the tibia or femur region of a leg disc (Cherbas et al., 2011)." []	208822	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	CME-L1
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005650	"Cells are from the ventral leg imaginal disc of the third instar larval stage. Transcriptome analysis suggests similarity to cells in the tibia or femur region of a leg disc (Cherbas et al., 2011)." []	561992	\N	\N	EFO	2	EFO	cell line	CME-L1
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005650	"Cells are from the ventral leg imaginal disc of the third instar larval stage. Transcriptome analysis suggests similarity to cells in the tibia or femur region of a leg disc (Cherbas et al., 2011)." []	561993	\N	\N	EFO	2	EFO	cell line	CME-L1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005650	"Cells are from the ventral leg imaginal disc of the third instar larval stage. Transcriptome analysis suggests similarity to cells in the tibia or femur region of a leg disc (Cherbas et al., 2011)." []	1143626	\N	\N	EFO	3	EFO	material entity	CME-L1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005650	"Cells are from the ventral leg imaginal disc of the third instar larval stage. Transcriptome analysis suggests similarity to cells in the tibia or femur region of a leg disc (Cherbas et al., 2011)." []	2026277	\N	\N	EFO	4	EFO	experimental factor	CME-L1
EFO:0005651	\N	\N	"" []	EFO:0005651	"" []	67334	\N	\N	EFO	0	EFO	drosophila developmental stage	drosophila developmental stage
EFO:0000399	EFO:0005651	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005651	"" []	208823	\N	\N	EFO	1	EFO	developmental stage	drosophila developmental stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005651	"" []	561994	\N	\N	EFO	2	EFO	process	drosophila developmental stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005651	"" []	1143627	\N	\N	EFO	3	EFO	experimental factor	drosophila developmental stage
EFO:0005653	\N	\N	"quantification of some metabolite in serum" []	EFO:0005653	"quantification of some metabolite in serum" []	67335	\N	\N	EFO	0	EFO	serum metabolite measurement	serum metabolite measurement
EFO:0004725	EFO:0005653	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0005653	"quantification of some metabolite in serum" []	208824	\N	\N	EFO	1	EFO	metabolite measurement	serum metabolite measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005653	"quantification of some metabolite in serum" []	561995	\N	\N	EFO	2	EFO	measurement	serum metabolite measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005653	"quantification of some metabolite in serum" []	1143628	\N	\N	EFO	3	EFO	information entity	serum metabolite measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005653	"quantification of some metabolite in serum" []	2026278	\N	\N	EFO	4	EFO	experimental factor	serum metabolite measurement
EFO:0005654	\N	\N	"quantification of the speed at which sound travels through bone as an indicator of the physical and structural properties of the bone" []	EFO:0005654	"quantification of the speed at which sound travels through bone as an indicator of the physical and structural properties of the bone" []	67336	\N	\N	EFO	0	EFO	velocity of sound measurement	velocity of sound measurement
EFO:0004516	EFO:0005654	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0005654	"quantification of the speed at which sound travels through bone as an indicator of the physical and structural properties of the bone" []	208825	\N	\N	EFO	1	EFO	bone fracture related measurement	velocity of sound measurement
EFO:0004512	EFO:0004516	\N	"" []	EFO:0005654	"quantification of the speed at which sound travels through bone as an indicator of the physical and structural properties of the bone" []	561996	\N	\N	EFO	2	EFO	bone measurement	velocity of sound measurement
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005654	"quantification of the speed at which sound travels through bone as an indicator of the physical and structural properties of the bone" []	1143629	\N	\N	EFO	3	EFO	measurement	velocity of sound measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005654	"quantification of the speed at which sound travels through bone as an indicator of the physical and structural properties of the bone" []	2026279	\N	\N	EFO	4	EFO	information entity	velocity of sound measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005654	"quantification of the speed at which sound travels through bone as an indicator of the physical and structural properties of the bone" []	3178521	\N	\N	EFO	5	EFO	experimental factor	velocity of sound measurement
EFO:0005655	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytosine arabinoside stimulus. Cytosine arabinoside is a cytidine analogue used as a drug in the treatment of various carcinomas." []	EFO:0005655	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytosine arabinoside stimulus. Cytosine arabinoside is a cytidine analogue used as a drug in the treatment of various carcinomas." []	67337	\N	\N	EFO	0	EFO	response to cytosine arabinoside	response to cytosine arabinoside
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0005655	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytosine arabinoside stimulus. Cytosine arabinoside is a cytidine analogue used as a drug in the treatment of various carcinomas." []	194748	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to cytosine arabinoside
EFO:0005657	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a protease inhibitor, a class of antiviral drugs" []	EFO:0005657	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a protease inhibitor, a class of antiviral drugs" []	67338	\N	\N	EFO	0	EFO	response to protease inhibitor	response to protease inhibitor
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0005657	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a protease inhibitor, a class of antiviral drugs" []	194749	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to protease inhibitor
EFO:0005658	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a selective serotonin reuptake inhibitor stimulus, a mood-stimulating drug." []	EFO:0005658	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a selective serotonin reuptake inhibitor stimulus, a mood-stimulating drug." []	67339	\N	\N	EFO	0	EFO	response to selective serotonin reuptake inhibitor	response to selective serotonin reuptake inhibitor
GO:0036276	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antidepressant stimulus, a mood-stimulating drug." [CHEBI:35469, GOC:hp]	EFO:0005658	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a selective serotonin reuptake inhibitor stimulus, a mood-stimulating drug." []	194750	\N	gocheck_do_not_manually_annotate	EFO	0	EFO	response to antidepressant	response to selective serotonin reuptake inhibitor
EFO:0005659	\N	\N	"Is the quantification of Beta-amyloid 1-40 in plasma, typically used as a biomarker for Alzheimer's Disease" []	EFO:0005659	"Is the quantification of Beta-amyloid 1-40 in plasma, typically used as a biomarker for Alzheimer's Disease" []	67340	\N	\N	EFO	0	EFO	plasma beta-amyloid 1-40 measurement	plasma beta-amyloid 1-40 measurement
EFO:0006514	EFO:0005659	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0005659	"Is the quantification of Beta-amyloid 1-40 in plasma, typically used as a biomarker for Alzheimer's Disease" []	208826	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	plasma beta-amyloid 1-40 measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005659	"Is the quantification of Beta-amyloid 1-40 in plasma, typically used as a biomarker for Alzheimer's Disease" []	561997	\N	\N	EFO	2	EFO	measurement	plasma beta-amyloid 1-40 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005659	"Is the quantification of Beta-amyloid 1-40 in plasma, typically used as a biomarker for Alzheimer's Disease" []	1143630	\N	\N	EFO	3	EFO	information entity	plasma beta-amyloid 1-40 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005659	"Is the quantification of Beta-amyloid 1-40 in plasma, typically used as a biomarker for Alzheimer's Disease" []	2026280	\N	\N	EFO	4	EFO	experimental factor	plasma beta-amyloid 1-40 measurement
EFO:0005660	\N	\N	"Is the quantification of Beta-amyloid 1-42 in plasma, typically used as a biomarker for Alzheimer's Disease" []	EFO:0005660	"Is the quantification of Beta-amyloid 1-42 in plasma, typically used as a biomarker for Alzheimer's Disease" []	67341	\N	\N	EFO	0	EFO	plasma beta-amyloid 1-42 measurement	plasma beta-amyloid 1-42 measurement
EFO:0006514	EFO:0005660	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0005660	"Is the quantification of Beta-amyloid 1-42 in plasma, typically used as a biomarker for Alzheimer's Disease" []	208827	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	plasma beta-amyloid 1-42 measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005660	"Is the quantification of Beta-amyloid 1-42 in plasma, typically used as a biomarker for Alzheimer's Disease" []	561998	\N	\N	EFO	2	EFO	measurement	plasma beta-amyloid 1-42 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005660	"Is the quantification of Beta-amyloid 1-42 in plasma, typically used as a biomarker for Alzheimer's Disease" []	1143631	\N	\N	EFO	3	EFO	information entity	plasma beta-amyloid 1-42 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005660	"Is the quantification of Beta-amyloid 1-42 in plasma, typically used as a biomarker for Alzheimer's Disease" []	2026281	\N	\N	EFO	4	EFO	experimental factor	plasma beta-amyloid 1-42 measurement
EFO:0005661	\N	\N	"The CBCL is a widely used checklist of between 100 and 120 questions (depending on target age group) for identifying problem behaviour in children." []	EFO:0005661	"The CBCL is a widely used checklist of between 100 and 120 questions (depending on target age group) for identifying problem behaviour in children." []	67342	\N	\N	EFO	0	EFO	Child Behaviour Checklist assessment	Child Behaviour Checklist assessment
EFO:0006848	EFO:0005661	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0005661	"The CBCL is a widely used checklist of between 100 and 120 questions (depending on target age group) for identifying problem behaviour in children." []	208828	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	Child Behaviour Checklist assessment
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005661	"The CBCL is a widely used checklist of between 100 and 120 questions (depending on target age group) for identifying problem behaviour in children." []	561999	\N	\N	EFO	2	EFO	measurement	Child Behaviour Checklist assessment
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005661	"The CBCL is a widely used checklist of between 100 and 120 questions (depending on target age group) for identifying problem behaviour in children." []	1143632	\N	\N	EFO	3	EFO	information entity	Child Behaviour Checklist assessment
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005661	"The CBCL is a widely used checklist of between 100 and 120 questions (depending on target age group) for identifying problem behaviour in children." []	2026282	\N	\N	EFO	4	EFO	experimental factor	Child Behaviour Checklist assessment
EFO:0005663	\N	\N	"quantification of the glycoprotein uromodulin in urine" []	EFO:0005663	"quantification of the glycoprotein uromodulin in urine" []	67343	\N	\N	EFO	0	EFO	urinary uromodulin measurement	urinary uromodulin measurement
EFO:0005116	EFO:0005663	\N	"quantification of some metabolite in urine" []	EFO:0005663	"quantification of the glycoprotein uromodulin in urine" []	208829	\N	\N	EFO	1	EFO	urinary metabolite measurement	urinary uromodulin measurement
EFO:0004725	EFO:0005116	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0005663	"quantification of the glycoprotein uromodulin in urine" []	562000	\N	\N	EFO	2	EFO	metabolite measurement	urinary uromodulin measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005663	"quantification of the glycoprotein uromodulin in urine" []	1143633	\N	\N	EFO	3	EFO	measurement	urinary uromodulin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005663	"quantification of the glycoprotein uromodulin in urine" []	2026283	\N	\N	EFO	4	EFO	information entity	urinary uromodulin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005663	"quantification of the glycoprotein uromodulin in urine" []	3178522	\N	\N	EFO	5	EFO	experimental factor	urinary uromodulin measurement
EFO:0005664	\N	\N	"quantification of some metabolite in blood" []	EFO:0005664	"quantification of some metabolite in blood" []	67344	\N	\N	EFO	0	EFO	blood metabolite measurement	blood metabolite measurement
EFO:0004725	EFO:0005664	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0005664	"quantification of some metabolite in blood" []	208830	\N	\N	EFO	1	EFO	metabolite measurement	blood metabolite measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005664	"quantification of some metabolite in blood" []	562001	\N	\N	EFO	2	EFO	measurement	blood metabolite measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005664	"quantification of some metabolite in blood" []	1143634	\N	\N	EFO	3	EFO	information entity	blood metabolite measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005664	"quantification of some metabolite in blood" []	2026284	\N	\N	EFO	4	EFO	experimental factor	blood metabolite measurement
EFO:0005665	\N	\N	"quantification of white matter hyperintensity, usually measured by MRI" []	EFO:0005665	"quantification of white matter hyperintensity, usually measured by MRI" []	67345	\N	\N	EFO	0	EFO	white matter hyperintensity measurement	white matter hyperintensity measurement
EFO:0004464	EFO:0005665	\N	"" []	EFO:0005665	"quantification of white matter hyperintensity, usually measured by MRI" []	208831	\N	\N	EFO	1	EFO	brain measurement	white matter hyperintensity measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005665	"quantification of white matter hyperintensity, usually measured by MRI" []	562002	\N	\N	EFO	2	EFO	measurement	white matter hyperintensity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005665	"quantification of white matter hyperintensity, usually measured by MRI" []	1143635	\N	\N	EFO	3	EFO	information entity	white matter hyperintensity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005665	"quantification of white matter hyperintensity, usually measured by MRI" []	2026285	\N	\N	EFO	4	EFO	experimental factor	white matter hyperintensity measurement
EFO:0005666	\N	\N	"quantification of the antibodies to the enzyme thyroid peroxidase in blood, usually as an indicator for autoimmune thyroid disease" []	EFO:0005666	"quantification of the antibodies to the enzyme thyroid peroxidase in blood, usually as an indicator for autoimmune thyroid disease" []	67346	\N	\N	EFO	0	EFO	thyroid peroxidase antibody measurement	thyroid peroxidase antibody measurement
EFO:0004556	EFO:0005666	\N	"Is the quantification of some antibody" []	EFO:0005666	"quantification of the antibodies to the enzyme thyroid peroxidase in blood, usually as an indicator for autoimmune thyroid disease" []	208832	\N	\N	EFO	1	EFO	antibody measurement	thyroid peroxidase antibody measurement
EFO:0006846	EFO:0005666	\N	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	EFO:0005666	"quantification of the antibodies to the enzyme thyroid peroxidase in blood, usually as an indicator for autoimmune thyroid disease" []	208833	\N	\N	EFO	1	EFO	autoimmune disease biomarker	thyroid peroxidase antibody measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005666	"quantification of the antibodies to the enzyme thyroid peroxidase in blood, usually as an indicator for autoimmune thyroid disease" []	562003	\N	\N	EFO	2	EFO	measurement	thyroid peroxidase antibody measurement
EFO:0001444	EFO:0006846	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005666	"quantification of the antibodies to the enzyme thyroid peroxidase in blood, usually as an indicator for autoimmune thyroid disease" []	562004	\N	\N	EFO	2	EFO	measurement	thyroid peroxidase antibody measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005666	"quantification of the antibodies to the enzyme thyroid peroxidase in blood, usually as an indicator for autoimmune thyroid disease" []	1143636	\N	\N	EFO	3	EFO	information entity	thyroid peroxidase antibody measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005666	"quantification of the antibodies to the enzyme thyroid peroxidase in blood, usually as an indicator for autoimmune thyroid disease" []	2026286	\N	\N	EFO	4	EFO	experimental factor	thyroid peroxidase antibody measurement
EFO:0005667	\N	\N	"quantification of the amount of albumin excreted in urine, measured as an indicator for kidney malfunctions such as diabetic nephropathy" []	EFO:0005667	"quantification of the amount of albumin excreted in urine, measured as an indicator for kidney malfunctions such as diabetic nephropathy" []	67347	\N	\N	EFO	0	EFO	urinary albumin excretion rate	urinary albumin excretion rate
EFO:0005116	EFO:0005667	\N	"quantification of some metabolite in urine" []	EFO:0005667	"quantification of the amount of albumin excreted in urine, measured as an indicator for kidney malfunctions such as diabetic nephropathy" []	208834	\N	\N	EFO	1	EFO	urinary metabolite measurement	urinary albumin excretion rate
EFO:0004725	EFO:0005116	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0005667	"quantification of the amount of albumin excreted in urine, measured as an indicator for kidney malfunctions such as diabetic nephropathy" []	562005	\N	\N	EFO	2	EFO	metabolite measurement	urinary albumin excretion rate
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005667	"quantification of the amount of albumin excreted in urine, measured as an indicator for kidney malfunctions such as diabetic nephropathy" []	1143637	\N	\N	EFO	3	EFO	measurement	urinary albumin excretion rate
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005667	"quantification of the amount of albumin excreted in urine, measured as an indicator for kidney malfunctions such as diabetic nephropathy" []	2026287	\N	\N	EFO	4	EFO	information entity	urinary albumin excretion rate
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005667	"quantification of the amount of albumin excreted in urine, measured as an indicator for kidney malfunctions such as diabetic nephropathy" []	3178523	\N	\N	EFO	5	EFO	experimental factor	urinary albumin excretion rate
EFO:0005668	\N	\N	"quantification of the depth of the anterior chamber of the eye as an indicator for eye disease such as primary angle closure glaucoma" []	EFO:0005668	"quantification of the depth of the anterior chamber of the eye as an indicator for eye disease such as primary angle closure glaucoma" []	67348	\N	\N	EFO	0	EFO	anterior chamber depth measurement	anterior chamber depth measurement
EFO:0004731	EFO:0005668	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0005668	"quantification of the depth of the anterior chamber of the eye as an indicator for eye disease such as primary angle closure glaucoma" []	208835	\N	\N	EFO	1	EFO	eye measurement	anterior chamber depth measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005668	"quantification of the depth of the anterior chamber of the eye as an indicator for eye disease such as primary angle closure glaucoma" []	562006	\N	\N	EFO	2	EFO	measurement	anterior chamber depth measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005668	"quantification of the depth of the anterior chamber of the eye as an indicator for eye disease such as primary angle closure glaucoma" []	1143638	\N	\N	EFO	3	EFO	information entity	anterior chamber depth measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005668	"quantification of the depth of the anterior chamber of the eye as an indicator for eye disease such as primary angle closure glaucoma" []	2026288	\N	\N	EFO	4	EFO	experimental factor	anterior chamber depth measurement
EFO:0005669	\N	\N	"stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain" []	EFO:0005669	"stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain" []	67349	\N	\N	EFO	0	EFO	intracerebral hemorrhage	intracerebral hemorrhage
EFO:0000551	EFO:0005669	\N	"Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." []	EFO:0005669	"stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain" []	208836	\N	\N	EFO	1	EFO	intracranial hemorrhage NOS	intracerebral hemorrhage
EFO:0003763	EFO:0000551	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0005669	"stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain" []	562007	\N	\N	EFO	2	EFO	cerebrovascular disorder	intracerebral hemorrhage
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0005669	"stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain" []	1143639	\N	\N	EFO	3	EFO	vascular disease	intracerebral hemorrhage
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005669	"stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain" []	2026289	\N	\N	EFO	4	EFO	cardiovascular disease	intracerebral hemorrhage
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005669	"stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain" []	3178524	\N	\N	EFO	5	EFO	disease	intracerebral hemorrhage
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005669	"stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain" []	4388279	\N	\N	EFO	6	EFO	disposition	intracerebral hemorrhage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005669	"stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain" []	5408835	\N	\N	EFO	7	EFO	material property	intracerebral hemorrhage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005669	"stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain" []	6147509	\N	\N	EFO	8	EFO	experimental factor	intracerebral hemorrhage
EFO:0005670	\N	\N	"initation of the habit of smoking, the inhaling and exhaling of tobacco smoke." []	EFO:0005670	"initation of the habit of smoking, the inhaling and exhaling of tobacco smoke." []	67350	\N	\N	EFO	0	EFO	smoking initiation	smoking initiation
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0005670	"initation of the habit of smoking, the inhaling and exhaling of tobacco smoke." []	194751	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	smoking initiation
EFO:0005671	\N	\N	"the quantification of some smoking or smoking-related behaviour, usually self-reported via a questionnaire" []	EFO:0005671	"the quantification of some smoking or smoking-related behaviour, usually self-reported via a questionnaire" []	67351	\N	\N	EFO	0	EFO	smoking behaviour measurement	smoking behaviour measurement
EFO:0001444	EFO:0005671	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005671	"the quantification of some smoking or smoking-related behaviour, usually self-reported via a questionnaire" []	208837	\N	\N	EFO	1	EFO	measurement	smoking behaviour measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005671	"the quantification of some smoking or smoking-related behaviour, usually self-reported via a questionnaire" []	562008	\N	\N	EFO	2	EFO	information entity	smoking behaviour measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005671	"the quantification of some smoking or smoking-related behaviour, usually self-reported via a questionnaire" []	1143640	\N	\N	EFO	3	EFO	experimental factor	smoking behaviour measurement
EFO:0005672	\N	\N	"A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." []	EFO:0005672	"A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." []	67352	\N	\N	EFO	0	EFO	acute coronary syndrome	acute coronary syndrome
EFO:0003777	EFO:0005672	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005672	"A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." []	208838	\N	\N	EFO	1	EFO	heart disease	acute coronary syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005672	"A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." []	562009	\N	\N	EFO	2	EFO	cardiovascular disease	acute coronary syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005672	"A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." []	1143641	\N	\N	EFO	3	EFO	disease	acute coronary syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005672	"A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." []	2026290	\N	\N	EFO	4	EFO	disposition	acute coronary syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005672	"A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." []	3178525	\N	\N	EFO	5	EFO	material property	acute coronary syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005672	"A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." []	4388280	\N	\N	EFO	6	EFO	experimental factor	acute coronary syndrome
EFO:0005673	\N	\N	"" []	EFO:0005673	"" []	67353	\N	\N	EFO	0	EFO	chronic mucus hypersecretion	chronic mucus hypersecretion
EFO:0003765	EFO:0005673	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0005673	"" []	208839	\N	\N	EFO	1	EFO	sign or symptom	chronic mucus hypersecretion
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0005673	"" []	562010	\N	\N	EFO	2	EFO	phenotype	chronic mucus hypersecretion
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0005673	"" []	1143642	\N	\N	EFO	3	EFO	quality	chronic mucus hypersecretion
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005673	"" []	2026291	\N	\N	EFO	4	EFO	material property	chronic mucus hypersecretion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005673	"" []	3178526	\N	\N	EFO	5	EFO	experimental factor	chronic mucus hypersecretion
EFO:0005674	\N	\N	"quantification of the microstructre of the white matter of the brain" []	EFO:0005674	"quantification of the microstructre of the white matter of the brain" []	67354	\N	\N	EFO	0	EFO	white matter microstructure measurement	white matter microstructure measurement
EFO:0004464	EFO:0005674	\N	"" []	EFO:0005674	"quantification of the microstructre of the white matter of the brain" []	208840	\N	\N	EFO	1	EFO	brain measurement	white matter microstructure measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005674	"quantification of the microstructre of the white matter of the brain" []	562011	\N	\N	EFO	2	EFO	measurement	white matter microstructure measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005674	"quantification of the microstructre of the white matter of the brain" []	1143643	\N	\N	EFO	3	EFO	information entity	white matter microstructure measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005674	"quantification of the microstructre of the white matter of the brain" []	2026292	\N	\N	EFO	4	EFO	experimental factor	white matter microstructure measurement
EFO:0005675	\N	\N	"the quantification of vitamin D-binding protein in blood as a biomarker for vitamin D-related diseases such as osteoporosis, arthritis, cardiovascular disease and cancer" []	EFO:0005675	"the quantification of vitamin D-binding protein in blood as a biomarker for vitamin D-related diseases such as osteoporosis, arthritis, cardiovascular disease and cancer" []	67355	\N	\N	EFO	0	EFO	vitamin D-binding protein measurement	vitamin D-binding protein measurement
EFO:0004747	EFO:0005675	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005675	"the quantification of vitamin D-binding protein in blood as a biomarker for vitamin D-related diseases such as osteoporosis, arthritis, cardiovascular disease and cancer" []	208841	\N	\N	EFO	1	EFO	protein measurement	vitamin D-binding protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005675	"the quantification of vitamin D-binding protein in blood as a biomarker for vitamin D-related diseases such as osteoporosis, arthritis, cardiovascular disease and cancer" []	562012	\N	\N	EFO	2	EFO	measurement	vitamin D-binding protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005675	"the quantification of vitamin D-binding protein in blood as a biomarker for vitamin D-related diseases such as osteoporosis, arthritis, cardiovascular disease and cancer" []	1143644	\N	\N	EFO	3	EFO	information entity	vitamin D-binding protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005675	"the quantification of vitamin D-binding protein in blood as a biomarker for vitamin D-related diseases such as osteoporosis, arthritis, cardiovascular disease and cancer" []	2026293	\N	\N	EFO	4	EFO	experimental factor	vitamin D-binding protein measurement
EFO:0005676	\N	\N	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	EFO:0005676	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	67356	\N	\N	EFO	0	EFO	Autoimmune Hepatitis	Autoimmune Hepatitis
EFO:0001421	EFO:0005676	\N	"Pathological processes of the LIVER." []	EFO:0005676	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	208842	\N	\N	EFO	1	EFO	liver disease	Autoimmune Hepatitis
EFO:0005140	EFO:0005676	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005676	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	208843	\N	\N	EFO	1	EFO	autoimmune disease	Autoimmune Hepatitis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005676	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	562013	\N	\N	EFO	2	EFO	digestive system disease	Autoimmune Hepatitis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0005676	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	562014	\N	\N	EFO	2	EFO	endocrine system disease	Autoimmune Hepatitis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005676	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	562015	\N	\N	EFO	2	EFO	immune system disease	Autoimmune Hepatitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005676	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	1143645	\N	\N	EFO	3	EFO	disease	Autoimmune Hepatitis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005676	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	1143646	\N	\N	EFO	3	EFO	disease	Autoimmune Hepatitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005676	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	1143647	\N	\N	EFO	3	EFO	disease	Autoimmune Hepatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005676	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	2026294	\N	\N	EFO	4	EFO	disposition	Autoimmune Hepatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005676	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	3178527	\N	\N	EFO	5	EFO	material property	Autoimmune Hepatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005676	"Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." []	4388281	\N	\N	EFO	6	EFO	experimental factor	Autoimmune Hepatitis
EFO:0005677	\N	\N	"quantification of the onset of puberty in human males and females through a series of proxy measurements such as genital enlargement (males) or breast development (females). These characteristics are assessed based on pre-defined scales either through self-reporting or through assessment by a medical professional." []	EFO:0005677	"quantification of the onset of puberty in human males and females through a series of proxy measurements such as genital enlargement (males) or breast development (females). These characteristics are assessed based on pre-defined scales either through self-reporting or through assessment by a medical professional." []	67357	\N	\N	EFO	0	EFO	puberty onset measurement	puberty onset measurement
EFO:0001444	EFO:0005677	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005677	"quantification of the onset of puberty in human males and females through a series of proxy measurements such as genital enlargement (males) or breast development (females). These characteristics are assessed based on pre-defined scales either through self-reporting or through assessment by a medical professional." []	208844	\N	\N	EFO	1	EFO	measurement	puberty onset measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005677	"quantification of the onset of puberty in human males and females through a series of proxy measurements such as genital enlargement (males) or breast development (females). These characteristics are assessed based on pre-defined scales either through self-reporting or through assessment by a medical professional." []	562016	\N	\N	EFO	2	EFO	information entity	puberty onset measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005677	"quantification of the onset of puberty in human males and females through a series of proxy measurements such as genital enlargement (males) or breast development (females). These characteristics are assessed based on pre-defined scales either through self-reporting or through assessment by a medical professional." []	1143648	\N	\N	EFO	3	EFO	experimental factor	puberty onset measurement
EFO:0005678	\N	\N	"age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" []	EFO:0005678	"age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" []	67358	\N	\N	EFO	0	EFO	hippocampal sclerosis of aging	hippocampal sclerosis of aging
EFO:0000618	EFO:0005678	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005678	"age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" []	208845	\N	\N	EFO	1	EFO	nervous system disease	hippocampal sclerosis of aging
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005678	"age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" []	562017	\N	\N	EFO	2	EFO	disease	hippocampal sclerosis of aging
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005678	"age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" []	1143649	\N	\N	EFO	3	EFO	disposition	hippocampal sclerosis of aging
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005678	"age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" []	2026295	\N	\N	EFO	4	EFO	material property	hippocampal sclerosis of aging
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005678	"age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" []	3178528	\N	\N	EFO	5	EFO	experimental factor	hippocampal sclerosis of aging
EFO:0005680	\N	\N	"The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample." []	EFO:0005680	"The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample." []	67359	\N	\N	EFO	0	EFO	omega-6 polyunsaturated fatty acid measurement	omega-6 polyunsaturated fatty acid measurement
EFO:0005110	EFO:0005680	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0005680	"The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample." []	208846	\N	\N	EFO	1	EFO	fatty acid measurement	omega-6 polyunsaturated fatty acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0005680	"The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample." []	562018	\N	\N	EFO	2	EFO	lipid measurement	omega-6 polyunsaturated fatty acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0005680	"The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample." []	1143650	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	omega-6 polyunsaturated fatty acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005680	"The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample." []	2026296	\N	\N	EFO	4	EFO	measurement	omega-6 polyunsaturated fatty acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005680	"The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample." []	3178529	\N	\N	EFO	5	EFO	information entity	omega-6 polyunsaturated fatty acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005680	"The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample." []	4388282	\N	\N	EFO	6	EFO	experimental factor	omega-6 polyunsaturated fatty acid measurement
EFO:0005681	\N	\N	"Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria." []	EFO:0005681	"Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria." []	67360	\N	\N	EFO	0	EFO	Staphylococcus aureus infection	Staphylococcus aureus infection
EFO:0000771	EFO:0005681	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0005681	"Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria." []	208847	\N	\N	EFO	1	EFO	bacterial disease	Staphylococcus aureus infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005681	"Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria." []	562019	\N	\N	EFO	2	EFO	infectious disease	Staphylococcus aureus infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005681	"Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria." []	1143651	\N	\N	EFO	3	EFO	disease	Staphylococcus aureus infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005681	"Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria." []	2026297	\N	\N	EFO	4	EFO	disposition	Staphylococcus aureus infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005681	"Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria." []	3178530	\N	\N	EFO	5	EFO	material property	Staphylococcus aureus infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005681	"Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria." []	4388283	\N	\N	EFO	6	EFO	experimental factor	Staphylococcus aureus infection
EFO:0005682	\N	\N	"quantification of the relative amount of oxygen that is dissolved or carried in a given medium" []	EFO:0005682	"quantification of the relative amount of oxygen that is dissolved or carried in a given medium" []	67361	\N	\N	EFO	0	EFO	oxygen saturation measurement	oxygen saturation measurement
EFO:0003892	EFO:0005682	\N	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	EFO:0005682	"quantification of the relative amount of oxygen that is dissolved or carried in a given medium" []	208848	\N	\N	EFO	1	EFO	pulmonary function measurement	oxygen saturation measurement
EFO:0001444	EFO:0003892	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005682	"quantification of the relative amount of oxygen that is dissolved or carried in a given medium" []	562020	\N	\N	EFO	2	EFO	measurement	oxygen saturation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005682	"quantification of the relative amount of oxygen that is dissolved or carried in a given medium" []	1143652	\N	\N	EFO	3	EFO	information entity	oxygen saturation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005682	"quantification of the relative amount of oxygen that is dissolved or carried in a given medium" []	2026298	\N	\N	EFO	4	EFO	experimental factor	oxygen saturation measurement
EFO:0005684	\N	\N	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	67362	\N	\N	EFO	0	EFO	RNA-seq of coding RNA from single cells	RNA-seq of coding RNA from single cells
EFO:0003738	EFO:0005684	\N	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance" []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	208849	\N	\N	EFO	1	EFO	RNA-seq of coding RNA	RNA-seq of coding RNA from single cells
EFO:0002770	EFO:0003738	\N	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	562021	\N	\N	EFO	2	EFO	transcription profiling by high throughput sequencing	RNA-seq of coding RNA from single cells
EFO:0001032	EFO:0002770	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	1143653	\N	\N	EFO	3	EFO	transcription profiling	RNA-seq of coding RNA from single cells
EFO:0001457	EFO:0002770	\N	"An assay with input RNA" []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	1143654	\N	\N	EFO	3	EFO	RNA assay	RNA-seq of coding RNA from single cells
EFO:0002697	EFO:0002770	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	1143655	\N	\N	EFO	3	EFO	assay by high throughput sequencer	RNA-seq of coding RNA from single cells
EFO:0004120	EFO:0002770	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	1143656	\N	\N	EFO	3	EFO	ArrayExpress experiment type	RNA-seq of coding RNA from single cells
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	2026299	\N	\N	EFO	4	EFO	experimental process	RNA-seq of coding RNA from single cells
EFO:0002772	EFO:0001457	\N	"" []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	2026300	\N	\N	EFO	4	EFO	assay by molecule	RNA-seq of coding RNA from single cells
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	2026301	\N	\N	EFO	4	EFO	assay by sequencer	RNA-seq of coding RNA from single cells
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	2026302	\N	\N	EFO	4	EFO	experimental process	RNA-seq of coding RNA from single cells
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	5996613	\N	\N	EFO	8	EFO	planned process	RNA-seq of coding RNA from single cells
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	3178532	\N	\N	EFO	5	EFO	assay	RNA-seq of coding RNA from single cells
EFO:0002773	EFO:0003740	\N	"" []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	3178533	\N	\N	EFO	5	EFO	assay by instrument	RNA-seq of coding RNA from single cells
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	6409750	\N	\N	EFO	9	EFO	process	RNA-seq of coding RNA from single cells
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	5408838	\N	\N	EFO	7	EFO	experimental process	RNA-seq of coding RNA from single cells
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	4388286	\N	\N	EFO	6	EFO	assay	RNA-seq of coding RNA from single cells
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005684	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	6807627	\N	\N	EFO	10	EFO	experimental factor	RNA-seq of coding RNA from single cells
EFO:0005685	\N	\N	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	67363	\N	\N	EFO	0	EFO	RNA-seq of non coding RNA from single cells	RNA-seq of non coding RNA from single cells
EFO:0003737	EFO:0005685	\N	"An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance" []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	208850	\N	\N	EFO	1	EFO	RNA-seq of non coding RNA	RNA-seq of non coding RNA from single cells
EFO:0002770	EFO:0003737	\N	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	562022	\N	\N	EFO	2	EFO	transcription profiling by high throughput sequencing	RNA-seq of non coding RNA from single cells
EFO:0001032	EFO:0002770	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	1143657	\N	\N	EFO	3	EFO	transcription profiling	RNA-seq of non coding RNA from single cells
EFO:0001457	EFO:0002770	\N	"An assay with input RNA" []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	1143658	\N	\N	EFO	3	EFO	RNA assay	RNA-seq of non coding RNA from single cells
EFO:0002697	EFO:0002770	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	1143659	\N	\N	EFO	3	EFO	assay by high throughput sequencer	RNA-seq of non coding RNA from single cells
EFO:0004120	EFO:0002770	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	1143660	\N	\N	EFO	3	EFO	ArrayExpress experiment type	RNA-seq of non coding RNA from single cells
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	2026303	\N	\N	EFO	4	EFO	experimental process	RNA-seq of non coding RNA from single cells
EFO:0002772	EFO:0001457	\N	"" []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	2026304	\N	\N	EFO	4	EFO	assay by molecule	RNA-seq of non coding RNA from single cells
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	2026305	\N	\N	EFO	4	EFO	assay by sequencer	RNA-seq of non coding RNA from single cells
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	2026306	\N	\N	EFO	4	EFO	experimental process	RNA-seq of non coding RNA from single cells
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	5996614	\N	\N	EFO	8	EFO	planned process	RNA-seq of non coding RNA from single cells
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	3178535	\N	\N	EFO	5	EFO	assay	RNA-seq of non coding RNA from single cells
EFO:0002773	EFO:0003740	\N	"" []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	3178536	\N	\N	EFO	5	EFO	assay by instrument	RNA-seq of non coding RNA from single cells
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	6409751	\N	\N	EFO	9	EFO	process	RNA-seq of non coding RNA from single cells
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	5408841	\N	\N	EFO	7	EFO	experimental process	RNA-seq of non coding RNA from single cells
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	4388289	\N	\N	EFO	6	EFO	assay	RNA-seq of non coding RNA from single cells
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005685	"An assay in which sequencing technology (e.g. Illumina) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance in individual cells instead of a population of cells." []	6807628	\N	\N	EFO	10	EFO	experimental factor	RNA-seq of non coding RNA from single cells
EFO:0005686	\N	\N	"Receptive language means the ability to understand or comprehend language heard or read" []	EFO:0005686	"Receptive language means the ability to understand or comprehend language heard or read" []	67364	\N	\N	EFO	0	EFO	receptive language perception	receptive language perception
EFO:0003925	EFO:0005686	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0005686	"Receptive language means the ability to understand or comprehend language heard or read" []	208851	\N	\N	EFO	1	EFO	cognition	receptive language perception
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0005686	"Receptive language means the ability to understand or comprehend language heard or read" []	562023	\N	\N	EFO	2	EFO	mental process	receptive language perception
EFO:0005687	\N	\N	"A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." []	EFO:0005687	"A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." []	67365	\N	\N	EFO	0	EFO	fibromyalgia	fibromyalgia
EFO:0002970	EFO:0005687	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:0005687	"A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." []	208852	\N	\N	EFO	1	EFO	muscular disease	fibromyalgia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:0005687	"A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." []	562024	\N	\N	EFO	2	EFO	skeletal system disease	fibromyalgia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005687	"A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." []	1143661	\N	\N	EFO	3	EFO	disease	fibromyalgia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005687	"A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." []	2026307	\N	\N	EFO	4	EFO	disposition	fibromyalgia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005687	"A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." []	3178537	\N	\N	EFO	5	EFO	material property	fibromyalgia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005687	"A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." []	4388290	\N	\N	EFO	6	EFO	experimental factor	fibromyalgia
EFO:0005688	\N	\N	"non-high-density lipoprotein cholesterol (NHDL), calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol, quantifies almost all potentially atherogenic apolipoprotein B containing lipoproteins encompassing cholesterol bound to low-density lipoproteins (LDL), very low-density lipoproteins, intermediate-density lipoproteins, lipoprotein(a), chylomicrons, and chylomicron remnants" []	EFO:0005688	"non-high-density lipoprotein cholesterol (NHDL), calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol, quantifies almost all potentially atherogenic apolipoprotein B containing lipoproteins encompassing cholesterol bound to low-density lipoproteins (LDL), very low-density lipoproteins, intermediate-density lipoproteins, lipoprotein(a), chylomicrons, and chylomicron remnants" []	67366	\N	\N	EFO	0	EFO	NHDL cholesterol	NHDL cholesterol
CHEBI:16113	EFO:0005688	\N	"The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils." []	EFO:0005688	"non-high-density lipoprotein cholesterol (NHDL), calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol, quantifies almost all potentially atherogenic apolipoprotein B containing lipoproteins encompassing cholesterol bound to low-density lipoproteins (LDL), very low-density lipoproteins, intermediate-density lipoproteins, lipoprotein(a), chylomicrons, and chylomicron remnants" []	208853	\N	\N	EFO	1	EFO	cholesterol	NHDL cholesterol
EFO:0003836	CHEBI:16113	\N	"Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes." []	EFO:0005688	"non-high-density lipoprotein cholesterol (NHDL), calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol, quantifies almost all potentially atherogenic apolipoprotein B containing lipoproteins encompassing cholesterol bound to low-density lipoproteins (LDL), very low-density lipoproteins, intermediate-density lipoproteins, lipoprotein(a), chylomicrons, and chylomicron remnants" []	562025	\N	\N	EFO	2	EFO	lipoprotein	NHDL cholesterol
CHEBI:36080	EFO:0003836	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0005688	"non-high-density lipoprotein cholesterol (NHDL), calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol, quantifies almost all potentially atherogenic apolipoprotein B containing lipoproteins encompassing cholesterol bound to low-density lipoproteins (LDL), very low-density lipoproteins, intermediate-density lipoproteins, lipoprotein(a), chylomicrons, and chylomicron remnants" []	1143662	\N	\N	EFO	3	EFO	protein	NHDL cholesterol
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0005688	"non-high-density lipoprotein cholesterol (NHDL), calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol, quantifies almost all potentially atherogenic apolipoprotein B containing lipoproteins encompassing cholesterol bound to low-density lipoproteins (LDL), very low-density lipoproteins, intermediate-density lipoproteins, lipoprotein(a), chylomicrons, and chylomicron remnants" []	2026308	\N	\N	EFO	4	EFO	chemical compound	NHDL cholesterol
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0005688	"non-high-density lipoprotein cholesterol (NHDL), calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol, quantifies almost all potentially atherogenic apolipoprotein B containing lipoproteins encompassing cholesterol bound to low-density lipoproteins (LDL), very low-density lipoproteins, intermediate-density lipoproteins, lipoprotein(a), chylomicrons, and chylomicron remnants" []	3178538	\N	\N	EFO	5	EFO	chemical entity	NHDL cholesterol
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005688	"non-high-density lipoprotein cholesterol (NHDL), calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol, quantifies almost all potentially atherogenic apolipoprotein B containing lipoproteins encompassing cholesterol bound to low-density lipoproteins (LDL), very low-density lipoproteins, intermediate-density lipoproteins, lipoprotein(a), chylomicrons, and chylomicron remnants" []	4388291	\N	\N	EFO	6	EFO	material entity	NHDL cholesterol
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005688	"non-high-density lipoprotein cholesterol (NHDL), calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol, quantifies almost all potentially atherogenic apolipoprotein B containing lipoproteins encompassing cholesterol bound to low-density lipoproteins (LDL), very low-density lipoproteins, intermediate-density lipoproteins, lipoprotein(a), chylomicrons, and chylomicron remnants" []	5408842	\N	\N	EFO	7	EFO	experimental factor	NHDL cholesterol
EFO:0005689	\N	\N	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	67367	\N	\N	EFO	0	EFO	non-high density lipoprotein cholesterol measurement	non-high density lipoprotein cholesterol measurement
EFO:0004529	EFO:0005689	\N	"A measure of circulating lipid" []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	208854	\N	\N	EFO	1	EFO	lipid measurement	non-high density lipoprotein cholesterol measurement
EFO:0004732	EFO:0005689	\N	"Is the quantification of some lipoprotein" []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	208855	\N	\N	EFO	1	EFO	lipoprotein measurement	non-high density lipoprotein cholesterol measurement
EFO:0005278	EFO:0005689	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	208856	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	non-high density lipoprotein cholesterol measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	562026	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	non-high density lipoprotein cholesterol measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	562027	\N	\N	EFO	2	EFO	protein measurement	non-high density lipoprotein cholesterol measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	562028	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	non-high density lipoprotein cholesterol measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	562029	\N	\N	EFO	2	EFO	cardiovascular measurement	non-high density lipoprotein cholesterol measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	1143663	\N	\N	EFO	3	EFO	measurement	non-high density lipoprotein cholesterol measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	1143664	\N	\N	EFO	3	EFO	measurement	non-high density lipoprotein cholesterol measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	1143665	\N	\N	EFO	3	EFO	measurement	non-high density lipoprotein cholesterol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	2026309	\N	\N	EFO	4	EFO	information entity	non-high density lipoprotein cholesterol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005689	"The quantification of NHDL cholesterol in blood, calculated by subtracting the amount of cholesterol in the HDL fraction from total cholesterol and used as an indicator for cardiovascular disease risk" []	3178539	\N	\N	EFO	5	EFO	experimental factor	non-high density lipoprotein cholesterol measurement
EFO:0005690	\N	\N	"" []	EFO:0005690	"" []	67368	\N	\N	EFO	0	EFO	musical aptitude	musical aptitude
EFO:0003925	EFO:0005690	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0005690	"" []	208857	\N	\N	EFO	1	EFO	cognition	musical aptitude
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0005690	"" []	562030	\N	\N	EFO	2	EFO	mental process	musical aptitude
EFO:0005691	\N	\N	"The quantification in blood of trimethylamine N-oxide, a product of gut microbiome and hepatic-mediated metabolism of dietary choline and L-carnitine" []	EFO:0005691	"The quantification in blood of trimethylamine N-oxide, a product of gut microbiome and hepatic-mediated metabolism of dietary choline and L-carnitine" []	67369	\N	\N	EFO	0	EFO	plasma trimethylamine N-oxide measurement	plasma trimethylamine N-oxide measurement
EFO:0001444	EFO:0005691	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005691	"The quantification in blood of trimethylamine N-oxide, a product of gut microbiome and hepatic-mediated metabolism of dietary choline and L-carnitine" []	208858	\N	\N	EFO	1	EFO	measurement	plasma trimethylamine N-oxide measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005691	"The quantification in blood of trimethylamine N-oxide, a product of gut microbiome and hepatic-mediated metabolism of dietary choline and L-carnitine" []	562031	\N	\N	EFO	2	EFO	information entity	plasma trimethylamine N-oxide measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005691	"The quantification in blood of trimethylamine N-oxide, a product of gut microbiome and hepatic-mediated metabolism of dietary choline and L-carnitine" []	1143666	\N	\N	EFO	3	EFO	experimental factor	plasma trimethylamine N-oxide measurement
EFO:0005692	\N	\N	"transposable element identification design type aims to discover non-reference transposable element (TE) insertions from whole genome sequencing data." []	EFO:0005692	"transposable element identification design type aims to discover non-reference transposable element (TE) insertions from whole genome sequencing data." []	67370	\N	\N	EFO	0	EFO	transposable element identification design	transposable element identification design
EFO:0004665	EFO:0005692	\N	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	EFO:0005692	"transposable element identification design type aims to discover non-reference transposable element (TE) insertions from whole genome sequencing data." []	208859	\N	\N	EFO	1	EFO	biomolecular annotation design	transposable element identification design
EFO:0001426	EFO:0004665	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0005692	"transposable element identification design type aims to discover non-reference transposable element (TE) insertions from whole genome sequencing data." []	562032	\N	\N	EFO	2	EFO	study design	transposable element identification design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005692	"transposable element identification design type aims to discover non-reference transposable element (TE) insertions from whole genome sequencing data." []	1143667	\N	\N	EFO	3	EFO	protocol	transposable element identification design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005692	"transposable element identification design type aims to discover non-reference transposable element (TE) insertions from whole genome sequencing data." []	2026310	\N	\N	EFO	4	EFO	information entity	transposable element identification design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005692	"transposable element identification design type aims to discover non-reference transposable element (TE) insertions from whole genome sequencing data." []	3178540	\N	\N	EFO	5	EFO	experimental factor	transposable element identification design
EFO:0005693	\N	\N	"mobile element identification design type aims to discover the mobile element (ME) insertions from whole genome sequencing data. The methodology may include the translation of read-pair and split-read mapping signals to detect ME insertions (MEIs)." []	EFO:0005693	"mobile element identification design type aims to discover the mobile element (ME) insertions from whole genome sequencing data. The methodology may include the translation of read-pair and split-read mapping signals to detect ME insertions (MEIs)." []	67371	\N	\N	EFO	0	EFO	mobile element identification design	mobile element identification design
EFO:0004665	EFO:0005693	\N	"Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping." []	EFO:0005693	"mobile element identification design type aims to discover the mobile element (ME) insertions from whole genome sequencing data. The methodology may include the translation of read-pair and split-read mapping signals to detect ME insertions (MEIs)." []	208860	\N	\N	EFO	1	EFO	biomolecular annotation design	mobile element identification design
EFO:0001426	EFO:0004665	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	EFO:0005693	"mobile element identification design type aims to discover the mobile element (ME) insertions from whole genome sequencing data. The methodology may include the translation of read-pair and split-read mapping signals to detect ME insertions (MEIs)." []	562033	\N	\N	EFO	2	EFO	study design	mobile element identification design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0005693	"mobile element identification design type aims to discover the mobile element (ME) insertions from whole genome sequencing data. The methodology may include the translation of read-pair and split-read mapping signals to detect ME insertions (MEIs)." []	1143668	\N	\N	EFO	3	EFO	protocol	mobile element identification design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005693	"mobile element identification design type aims to discover the mobile element (ME) insertions from whole genome sequencing data. The methodology may include the translation of read-pair and split-read mapping signals to detect ME insertions (MEIs)." []	2026311	\N	\N	EFO	4	EFO	information entity	mobile element identification design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005693	"mobile element identification design type aims to discover the mobile element (ME) insertions from whole genome sequencing data. The methodology may include the translation of read-pair and split-read mapping signals to detect ME insertions (MEIs)." []	3178541	\N	\N	EFO	5	EFO	experimental factor	mobile element identification design
EFO:0005694	\N	\N	"KMS-11 cell line was derived from four patients with multiple myeloma. These cells represent a later stage of B-cell differentiation, and shows characteristics of plasma cells by secreting surface kappa chain immunoglobulins." []	EFO:0005694	"KMS-11 cell line was derived from four patients with multiple myeloma. These cells represent a later stage of B-cell differentiation, and shows characteristics of plasma cells by secreting surface kappa chain immunoglobulins." []	67372	\N	\N	EFO	0	EFO	KMS-11	KMS-11
EFO:0002883	EFO:0005694	\N	"Cell lines that are part of the haemopoietic system." []	EFO:0005694	"KMS-11 cell line was derived from four patients with multiple myeloma. These cells represent a later stage of B-cell differentiation, and shows characteristics of plasma cells by secreting surface kappa chain immunoglobulins." []	208861	\N	\N	EFO	1	EFO	haemopoietic system cell line	KMS-11
EFO:0002888	EFO:0005694	\N	"" []	EFO:0005694	"KMS-11 cell line was derived from four patients with multiple myeloma. These cells represent a later stage of B-cell differentiation, and shows characteristics of plasma cells by secreting surface kappa chain immunoglobulins." []	208862	\N	\N	EFO	1	EFO	Homo sapiens cell line	KMS-11
EFO:0005292	EFO:0005694	\N	"" []	EFO:0005694	"KMS-11 cell line was derived from four patients with multiple myeloma. These cells represent a later stage of B-cell differentiation, and shows characteristics of plasma cells by secreting surface kappa chain immunoglobulins." []	208863	\N	\N	EFO	1	EFO	lymphoblastoid cell line	KMS-11
EFO:0000322	EFO:0002883	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005694	"KMS-11 cell line was derived from four patients with multiple myeloma. These cells represent a later stage of B-cell differentiation, and shows characteristics of plasma cells by secreting surface kappa chain immunoglobulins." []	562034	\N	\N	EFO	2	EFO	cell line	KMS-11
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005694	"KMS-11 cell line was derived from four patients with multiple myeloma. These cells represent a later stage of B-cell differentiation, and shows characteristics of plasma cells by secreting surface kappa chain immunoglobulins." []	562035	\N	\N	EFO	2	EFO	cell line	KMS-11
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005694	"KMS-11 cell line was derived from four patients with multiple myeloma. These cells represent a later stage of B-cell differentiation, and shows characteristics of plasma cells by secreting surface kappa chain immunoglobulins." []	562036	\N	\N	EFO	2	EFO	cell line	KMS-11
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005694	"KMS-11 cell line was derived from four patients with multiple myeloma. These cells represent a later stage of B-cell differentiation, and shows characteristics of plasma cells by secreting surface kappa chain immunoglobulins." []	1143669	\N	\N	EFO	3	EFO	material entity	KMS-11
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005694	"KMS-11 cell line was derived from four patients with multiple myeloma. These cells represent a later stage of B-cell differentiation, and shows characteristics of plasma cells by secreting surface kappa chain immunoglobulins." []	2026312	\N	\N	EFO	4	EFO	experimental factor	KMS-11
EFO:0005696	\N	\N	"Medulloblastoma (aka D721), surgical resection from a patient with medulloblastoma as described by Darrell Bigner (1997)" []	EFO:0005696	"Medulloblastoma (aka D721), surgical resection from a patient with medulloblastoma as described by Darrell Bigner (1997)" []	67373	\N	\N	EFO	0	EFO	D721Med	D721Med
EFO:0001639	EFO:0005696	\N	"" []	EFO:0005696	"Medulloblastoma (aka D721), surgical resection from a patient with medulloblastoma as described by Darrell Bigner (1997)" []	208864	\N	\N	EFO	1	EFO	cancer cell line	D721Med
EFO:0002888	EFO:0005696	\N	"" []	EFO:0005696	"Medulloblastoma (aka D721), surgical resection from a patient with medulloblastoma as described by Darrell Bigner (1997)" []	208865	\N	\N	EFO	1	EFO	Homo sapiens cell line	D721Med
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005696	"Medulloblastoma (aka D721), surgical resection from a patient with medulloblastoma as described by Darrell Bigner (1997)" []	562037	\N	\N	EFO	2	EFO	cell line	D721Med
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005696	"Medulloblastoma (aka D721), surgical resection from a patient with medulloblastoma as described by Darrell Bigner (1997)" []	562038	\N	\N	EFO	2	EFO	cell line	D721Med
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005696	"Medulloblastoma (aka D721), surgical resection from a patient with medulloblastoma as described by Darrell Bigner (1997)" []	1143670	\N	\N	EFO	3	EFO	material entity	D721Med
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005696	"Medulloblastoma (aka D721), surgical resection from a patient with medulloblastoma as described by Darrell Bigner (1997)" []	2026313	\N	\N	EFO	4	EFO	experimental factor	D721Med
EFO:0005697	\N	\N	"M059J cells were isolated from a tumor specimen taken from a 33 year old male with untreated malignant glioblastoma. The cells were isolated concurrently from the same tumor specimen as M059K (see CRL-2365)." []	EFO:0005697	"M059J cells were isolated from a tumor specimen taken from a 33 year old male with untreated malignant glioblastoma. The cells were isolated concurrently from the same tumor specimen as M059K (see CRL-2365)." []	67374	\N	\N	EFO	0	EFO	M059J	M059J
EFO:0001639	EFO:0005697	\N	"" []	EFO:0005697	"M059J cells were isolated from a tumor specimen taken from a 33 year old male with untreated malignant glioblastoma. The cells were isolated concurrently from the same tumor specimen as M059K (see CRL-2365)." []	208866	\N	\N	EFO	1	EFO	cancer cell line	M059J
EFO:0002888	EFO:0005697	\N	"" []	EFO:0005697	"M059J cells were isolated from a tumor specimen taken from a 33 year old male with untreated malignant glioblastoma. The cells were isolated concurrently from the same tumor specimen as M059K (see CRL-2365)." []	208867	\N	\N	EFO	1	EFO	Homo sapiens cell line	M059J
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005697	"M059J cells were isolated from a tumor specimen taken from a 33 year old male with untreated malignant glioblastoma. The cells were isolated concurrently from the same tumor specimen as M059K (see CRL-2365)." []	562039	\N	\N	EFO	2	EFO	cell line	M059J
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005697	"M059J cells were isolated from a tumor specimen taken from a 33 year old male with untreated malignant glioblastoma. The cells were isolated concurrently from the same tumor specimen as M059K (see CRL-2365)." []	562040	\N	\N	EFO	2	EFO	cell line	M059J
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005697	"M059J cells were isolated from a tumor specimen taken from a 33 year old male with untreated malignant glioblastoma. The cells were isolated concurrently from the same tumor specimen as M059K (see CRL-2365)." []	1143671	\N	\N	EFO	3	EFO	material entity	M059J
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005697	"M059J cells were isolated from a tumor specimen taken from a 33 year old male with untreated malignant glioblastoma. The cells were isolated concurrently from the same tumor specimen as M059K (see CRL-2365)." []	2026314	\N	\N	EFO	4	EFO	experimental factor	M059J
EFO:0005698	\N	\N	"The Daoy cell line was established in 1985 by P. F Jacobsen of the Royal Perth Hospital in Western Australia. The line was derived from biopsy material taken from a tumor in the posterior fossa of a 4 year old boy." []	EFO:0005698	"The Daoy cell line was established in 1985 by P. F Jacobsen of the Royal Perth Hospital in Western Australia. The line was derived from biopsy material taken from a tumor in the posterior fossa of a 4 year old boy." []	67375	\N	\N	EFO	0	EFO	Daoy	Daoy
EFO:0001639	EFO:0005698	\N	"" []	EFO:0005698	"The Daoy cell line was established in 1985 by P. F Jacobsen of the Royal Perth Hospital in Western Australia. The line was derived from biopsy material taken from a tumor in the posterior fossa of a 4 year old boy." []	208868	\N	\N	EFO	1	EFO	cancer cell line	Daoy
EFO:0002888	EFO:0005698	\N	"" []	EFO:0005698	"The Daoy cell line was established in 1985 by P. F Jacobsen of the Royal Perth Hospital in Western Australia. The line was derived from biopsy material taken from a tumor in the posterior fossa of a 4 year old boy." []	208869	\N	\N	EFO	1	EFO	Homo sapiens cell line	Daoy
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005698	"The Daoy cell line was established in 1985 by P. F Jacobsen of the Royal Perth Hospital in Western Australia. The line was derived from biopsy material taken from a tumor in the posterior fossa of a 4 year old boy." []	562041	\N	\N	EFO	2	EFO	cell line	Daoy
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005698	"The Daoy cell line was established in 1985 by P. F Jacobsen of the Royal Perth Hospital in Western Australia. The line was derived from biopsy material taken from a tumor in the posterior fossa of a 4 year old boy." []	562042	\N	\N	EFO	2	EFO	cell line	Daoy
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005698	"The Daoy cell line was established in 1985 by P. F Jacobsen of the Royal Perth Hospital in Western Australia. The line was derived from biopsy material taken from a tumor in the posterior fossa of a 4 year old boy." []	1143672	\N	\N	EFO	3	EFO	material entity	Daoy
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005698	"The Daoy cell line was established in 1985 by P. F Jacobsen of the Royal Perth Hospital in Western Australia. The line was derived from biopsy material taken from a tumor in the posterior fossa of a 4 year old boy." []	2026315	\N	\N	EFO	4	EFO	experimental factor	Daoy
EFO:0005699	\N	\N	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	67376	\N	\N	EFO	0	EFO	desmoplastic medulloblastoma	desmoplastic medulloblastoma
EFO:0002939	EFO:0005699	\N	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	208870	\N	\N	EFO	1	EFO	medulloblastoma	desmoplastic medulloblastoma
EFO:0000326	EFO:0002939	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	562043	\N	\N	EFO	2	EFO	central nervous system cancer	desmoplastic medulloblastoma
EFO:0003833	EFO:0002939	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	562044	\N	\N	EFO	2	EFO	brain neoplasm	desmoplastic medulloblastoma
EFO:0005784	EFO:0002939	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	562045	\N	\N	EFO	2	EFO	embryonal neoplasm	desmoplastic medulloblastoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	1143673	\N	\N	EFO	3	EFO	cancer	desmoplastic medulloblastoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	1143674	\N	\N	EFO	3	EFO	nervous system disease	desmoplastic medulloblastoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	1143675	\N	\N	EFO	3	EFO	neoplasm	desmoplastic medulloblastoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	1143676	\N	\N	EFO	3	EFO	brain disease	desmoplastic medulloblastoma
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	1143677	\N	\N	EFO	3	EFO	neoplasm	desmoplastic medulloblastoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	2026316	\N	\N	EFO	4	EFO	neoplasm	desmoplastic medulloblastoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	3178544	\N	\N	EFO	5	EFO	disease	desmoplastic medulloblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	3178542	\N	\N	EFO	5	EFO	disease	desmoplastic medulloblastoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	2026319	\N	\N	EFO	4	EFO	nervous system disease	desmoplastic medulloblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	4132686	\N	\N	EFO	6	EFO	disposition	desmoplastic medulloblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	5181008	\N	\N	EFO	7	EFO	material property	desmoplastic medulloblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005699	"The desmoplastic variant of medulloblastoma is a highly malignant primary brain tumor and is typically seen in adolescents or young adults and tends to favor one of the cerebellar hemispheres." []	5996615	\N	\N	EFO	8	EFO	experimental factor	desmoplastic medulloblastoma
EFO:0005700	\N	\N	"This is an adherent cell line derived from a hepatic rhabdoid tumor. Hepatic rhabdoid tumors are extremely rare. This cell line has a large deletion on 22q, which indicates numerous genes in addition to SNF5 are deleted." []	EFO:0005700	"This is an adherent cell line derived from a hepatic rhabdoid tumor. Hepatic rhabdoid tumors are extremely rare. This cell line has a large deletion on 22q, which indicates numerous genes in addition to SNF5 are deleted." []	67377	\N	\N	EFO	0	EFO	TTC549	TTC549
EFO:0001641	EFO:0005700	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005700	"This is an adherent cell line derived from a hepatic rhabdoid tumor. Hepatic rhabdoid tumors are extremely rare. This cell line has a large deletion on 22q, which indicates numerous genes in addition to SNF5 are deleted." []	208871	\N	\N	EFO	1	EFO	epithelial cell derived cell line	TTC549
EFO:0002888	EFO:0005700	\N	"" []	EFO:0005700	"This is an adherent cell line derived from a hepatic rhabdoid tumor. Hepatic rhabdoid tumors are extremely rare. This cell line has a large deletion on 22q, which indicates numerous genes in addition to SNF5 are deleted." []	208872	\N	\N	EFO	1	EFO	Homo sapiens cell line	TTC549
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005700	"This is an adherent cell line derived from a hepatic rhabdoid tumor. Hepatic rhabdoid tumors are extremely rare. This cell line has a large deletion on 22q, which indicates numerous genes in addition to SNF5 are deleted." []	562046	\N	\N	EFO	2	EFO	cell line	TTC549
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005700	"This is an adherent cell line derived from a hepatic rhabdoid tumor. Hepatic rhabdoid tumors are extremely rare. This cell line has a large deletion on 22q, which indicates numerous genes in addition to SNF5 are deleted." []	562047	\N	\N	EFO	2	EFO	cell line	TTC549
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005700	"This is an adherent cell line derived from a hepatic rhabdoid tumor. Hepatic rhabdoid tumors are extremely rare. This cell line has a large deletion on 22q, which indicates numerous genes in addition to SNF5 are deleted." []	1143678	\N	\N	EFO	3	EFO	material entity	TTC549
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005700	"This is an adherent cell line derived from a hepatic rhabdoid tumor. Hepatic rhabdoid tumors are extremely rare. This cell line has a large deletion on 22q, which indicates numerous genes in addition to SNF5 are deleted." []	2026320	\N	\N	EFO	4	EFO	experimental factor	TTC549
EFO:0005701	\N	\N	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	EFO:0005701	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	67378	\N	\N	EFO	0	EFO	malignant rhabdoid tumour	malignant rhabdoid tumour
EFO:0003865	EFO:0005701	\N	"Tumors or cancers of the KIDNEY." []	EFO:0005701	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	208873	\N	\N	EFO	1	EFO	kidney neoplasm	malignant rhabdoid tumour
EFO:0005784	EFO:0005701	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:0005701	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	208874	\N	\N	EFO	1	EFO	embryonal neoplasm	malignant rhabdoid tumour
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0005701	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	562048	\N	\N	EFO	2	EFO	kidney disease	malignant rhabdoid tumour
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0005701	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	562049	\N	\N	EFO	2	EFO	urogenital neoplasm	malignant rhabdoid tumour
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005701	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	562050	\N	\N	EFO	2	EFO	neoplasm	malignant rhabdoid tumour
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005701	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	1143679	\N	\N	EFO	3	EFO	disease	malignant rhabdoid tumour
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005701	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	1143680	\N	\N	EFO	3	EFO	neoplasm	malignant rhabdoid tumour
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005701	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	2026322	\N	\N	EFO	4	EFO	disease	malignant rhabdoid tumour
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005701	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	2999659	\N	\N	EFO	5	EFO	disposition	malignant rhabdoid tumour
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005701	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	4132687	\N	\N	EFO	6	EFO	material property	malignant rhabdoid tumour
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005701	"Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children." []	5181009	\N	\N	EFO	7	EFO	experimental factor	malignant rhabdoid tumour
EFO:0005702	\N	\N	"A malignant rhabdoid tumor diploid cell population cloned from the A204 ATCC cell line. [PMID: 16897758]" []	EFO:0005702	"A malignant rhabdoid tumor diploid cell population cloned from the A204 ATCC cell line. [PMID: 16897758]" []	67379	\N	\N	EFO	0	EFO	A204.1	A204.1
EFO:0001639	EFO:0005702	\N	"" []	EFO:0005702	"A malignant rhabdoid tumor diploid cell population cloned from the A204 ATCC cell line. [PMID: 16897758]" []	208875	\N	\N	EFO	1	EFO	cancer cell line	A204.1
EFO:0001641	EFO:0005702	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005702	"A malignant rhabdoid tumor diploid cell population cloned from the A204 ATCC cell line. [PMID: 16897758]" []	208876	\N	\N	EFO	1	EFO	epithelial cell derived cell line	A204.1
EFO:0002888	EFO:0005702	\N	"" []	EFO:0005702	"A malignant rhabdoid tumor diploid cell population cloned from the A204 ATCC cell line. [PMID: 16897758]" []	208877	\N	\N	EFO	1	EFO	Homo sapiens cell line	A204.1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005702	"A malignant rhabdoid tumor diploid cell population cloned from the A204 ATCC cell line. [PMID: 16897758]" []	562051	\N	\N	EFO	2	EFO	cell line	A204.1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005702	"A malignant rhabdoid tumor diploid cell population cloned from the A204 ATCC cell line. [PMID: 16897758]" []	562052	\N	\N	EFO	2	EFO	cell line	A204.1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005702	"A malignant rhabdoid tumor diploid cell population cloned from the A204 ATCC cell line. [PMID: 16897758]" []	562053	\N	\N	EFO	2	EFO	cell line	A204.1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005702	"A malignant rhabdoid tumor diploid cell population cloned from the A204 ATCC cell line. [PMID: 16897758]" []	1143682	\N	\N	EFO	3	EFO	material entity	A204.1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005702	"A malignant rhabdoid tumor diploid cell population cloned from the A204 ATCC cell line. [PMID: 16897758]" []	2026323	\N	\N	EFO	4	EFO	experimental factor	A204.1
EFO:0005703	\N	\N	"This is an adherent cell line that represents the prototypical renal rhabdoid tumor [PMID: 16897758]. G401.6 is a diploid, 6-thioguanine-resistant clonal variant of the G401 cell line isolated by Weissman et al., Science, 236:175-180 (1986). The parental cell line, G401, can be ordered from the ATCC (CRL1441)." []	EFO:0005703	"This is an adherent cell line that represents the prototypical renal rhabdoid tumor [PMID: 16897758]. G401.6 is a diploid, 6-thioguanine-resistant clonal variant of the G401 cell line isolated by Weissman et al., Science, 236:175-180 (1986). The parental cell line, G401, can be ordered from the ATCC (CRL1441)." []	67380	\N	\N	EFO	0	EFO	G401.6	G401.6
EFO:0001641	EFO:0005703	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005703	"This is an adherent cell line that represents the prototypical renal rhabdoid tumor [PMID: 16897758]. G401.6 is a diploid, 6-thioguanine-resistant clonal variant of the G401 cell line isolated by Weissman et al., Science, 236:175-180 (1986). The parental cell line, G401, can be ordered from the ATCC (CRL1441)." []	208878	\N	\N	EFO	1	EFO	epithelial cell derived cell line	G401.6
EFO:0001643	EFO:0005703	\N	"" []	EFO:0005703	"This is an adherent cell line that represents the prototypical renal rhabdoid tumor [PMID: 16897758]. G401.6 is a diploid, 6-thioguanine-resistant clonal variant of the G401 cell line isolated by Weissman et al., Science, 236:175-180 (1986). The parental cell line, G401, can be ordered from the ATCC (CRL1441)." []	208879	\N	\N	EFO	1	EFO	kidney derived cell line	G401.6
EFO:0002888	EFO:0005703	\N	"" []	EFO:0005703	"This is an adherent cell line that represents the prototypical renal rhabdoid tumor [PMID: 16897758]. G401.6 is a diploid, 6-thioguanine-resistant clonal variant of the G401 cell line isolated by Weissman et al., Science, 236:175-180 (1986). The parental cell line, G401, can be ordered from the ATCC (CRL1441)." []	208880	\N	\N	EFO	1	EFO	Homo sapiens cell line	G401.6
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005703	"This is an adherent cell line that represents the prototypical renal rhabdoid tumor [PMID: 16897758]. G401.6 is a diploid, 6-thioguanine-resistant clonal variant of the G401 cell line isolated by Weissman et al., Science, 236:175-180 (1986). The parental cell line, G401, can be ordered from the ATCC (CRL1441)." []	562054	\N	\N	EFO	2	EFO	cell line	G401.6
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005703	"This is an adherent cell line that represents the prototypical renal rhabdoid tumor [PMID: 16897758]. G401.6 is a diploid, 6-thioguanine-resistant clonal variant of the G401 cell line isolated by Weissman et al., Science, 236:175-180 (1986). The parental cell line, G401, can be ordered from the ATCC (CRL1441)." []	562055	\N	\N	EFO	2	EFO	cell line	G401.6
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005703	"This is an adherent cell line that represents the prototypical renal rhabdoid tumor [PMID: 16897758]. G401.6 is a diploid, 6-thioguanine-resistant clonal variant of the G401 cell line isolated by Weissman et al., Science, 236:175-180 (1986). The parental cell line, G401, can be ordered from the ATCC (CRL1441)." []	562056	\N	\N	EFO	2	EFO	cell line	G401.6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005703	"This is an adherent cell line that represents the prototypical renal rhabdoid tumor [PMID: 16897758]. G401.6 is a diploid, 6-thioguanine-resistant clonal variant of the G401 cell line isolated by Weissman et al., Science, 236:175-180 (1986). The parental cell line, G401, can be ordered from the ATCC (CRL1441)." []	1143683	\N	\N	EFO	3	EFO	material entity	G401.6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005703	"This is an adherent cell line that represents the prototypical renal rhabdoid tumor [PMID: 16897758]. G401.6 is a diploid, 6-thioguanine-resistant clonal variant of the G401 cell line isolated by Weissman et al., Science, 236:175-180 (1986). The parental cell line, G401, can be ordered from the ATCC (CRL1441)." []	2026324	\N	\N	EFO	4	EFO	experimental factor	G401.6
EFO:0005704	\N	\N	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers. HuH7.5 developed from HuH7." []	EFO:0005704	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers. HuH7.5 developed from HuH7." []	67381	\N	\N	EFO	0	EFO	HuH-7.5	HuH-7.5
EFO:0001641	EFO:0005704	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005704	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers. HuH7.5 developed from HuH7." []	208881	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HuH-7.5
EFO:0002888	EFO:0005704	\N	"" []	EFO:0005704	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers. HuH7.5 developed from HuH7." []	208882	\N	\N	EFO	1	EFO	Homo sapiens cell line	HuH-7.5
EFO:0005216	EFO:0005704	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0005704	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers. HuH7.5 developed from HuH7." []	208883	\N	\N	EFO	1	EFO	hepatoma cell line	HuH-7.5
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005704	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers. HuH7.5 developed from HuH7." []	562057	\N	\N	EFO	2	EFO	cell line	HuH-7.5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005704	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers. HuH7.5 developed from HuH7." []	562058	\N	\N	EFO	2	EFO	cell line	HuH-7.5
EFO:0001639	EFO:0005216	\N	"" []	EFO:0005704	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers. HuH7.5 developed from HuH7." []	562059	\N	\N	EFO	2	EFO	cancer cell line	HuH-7.5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005704	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers. HuH7.5 developed from HuH7." []	2026326	\N	\N	EFO	4	EFO	material entity	HuH-7.5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005704	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers. HuH7.5 developed from HuH7." []	1143685	\N	\N	EFO	3	EFO	cell line	HuH-7.5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005704	"HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers. HuH7.5 developed from HuH7." []	2999660	\N	\N	EFO	5	EFO	experimental factor	HuH-7.5
EFO:0005705	\N	\N	"Nasal biopsies were collected from volunteer donors as an outpatient procedure as described (Feron et al., 1998). This was done by a registered otolaryngologist via an endoscopic procedure to ensure biopsy samples were taken from the superior, posterior region of the nasal septum close to the cribriform plate. Pieces of olfactory mucosa were obtained which contain stem cells in the olfactory epithelium. The stem cell population derived from human olfactory mucosa has been described as ecto-mesenchymal (Delorme et al., 2010) because it has characteristics of both neural and mesenchymal stem cells, suggesting a neural crest origin." []	EFO:0005705	"Nasal biopsies were collected from volunteer donors as an outpatient procedure as described (Feron et al., 1998). This was done by a registered otolaryngologist via an endoscopic procedure to ensure biopsy samples were taken from the superior, posterior region of the nasal septum close to the cribriform plate. Pieces of olfactory mucosa were obtained which contain stem cells in the olfactory epithelium. The stem cell population derived from human olfactory mucosa has been described as ecto-mesenchymal (Delorme et al., 2010) because it has characteristics of both neural and mesenchymal stem cells, suggesting a neural crest origin." []	67382	\N	\N	EFO	0	EFO	olfactory neurosphere cell line	olfactory neurosphere cell line
EFO:0001641	EFO:0005705	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005705	"Nasal biopsies were collected from volunteer donors as an outpatient procedure as described (Feron et al., 1998). This was done by a registered otolaryngologist via an endoscopic procedure to ensure biopsy samples were taken from the superior, posterior region of the nasal septum close to the cribriform plate. Pieces of olfactory mucosa were obtained which contain stem cells in the olfactory epithelium. The stem cell population derived from human olfactory mucosa has been described as ecto-mesenchymal (Delorme et al., 2010) because it has characteristics of both neural and mesenchymal stem cells, suggesting a neural crest origin." []	208884	\N	\N	EFO	1	EFO	epithelial cell derived cell line	olfactory neurosphere cell line
EFO:0002888	EFO:0005705	\N	"" []	EFO:0005705	"Nasal biopsies were collected from volunteer donors as an outpatient procedure as described (Feron et al., 1998). This was done by a registered otolaryngologist via an endoscopic procedure to ensure biopsy samples were taken from the superior, posterior region of the nasal septum close to the cribriform plate. Pieces of olfactory mucosa were obtained which contain stem cells in the olfactory epithelium. The stem cell population derived from human olfactory mucosa has been described as ecto-mesenchymal (Delorme et al., 2010) because it has characteristics of both neural and mesenchymal stem cells, suggesting a neural crest origin." []	208885	\N	\N	EFO	1	EFO	Homo sapiens cell line	olfactory neurosphere cell line
EFO:0002922	EFO:0005705	\N	"" []	EFO:0005705	"Nasal biopsies were collected from volunteer donors as an outpatient procedure as described (Feron et al., 1998). This was done by a registered otolaryngologist via an endoscopic procedure to ensure biopsy samples were taken from the superior, posterior region of the nasal septum close to the cribriform plate. Pieces of olfactory mucosa were obtained which contain stem cells in the olfactory epithelium. The stem cell population derived from human olfactory mucosa has been described as ecto-mesenchymal (Delorme et al., 2010) because it has characteristics of both neural and mesenchymal stem cells, suggesting a neural crest origin." []	208886	\N	\N	EFO	1	EFO	normal cell line	olfactory neurosphere cell line
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005705	"Nasal biopsies were collected from volunteer donors as an outpatient procedure as described (Feron et al., 1998). This was done by a registered otolaryngologist via an endoscopic procedure to ensure biopsy samples were taken from the superior, posterior region of the nasal septum close to the cribriform plate. Pieces of olfactory mucosa were obtained which contain stem cells in the olfactory epithelium. The stem cell population derived from human olfactory mucosa has been described as ecto-mesenchymal (Delorme et al., 2010) because it has characteristics of both neural and mesenchymal stem cells, suggesting a neural crest origin." []	562060	\N	\N	EFO	2	EFO	cell line	olfactory neurosphere cell line
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005705	"Nasal biopsies were collected from volunteer donors as an outpatient procedure as described (Feron et al., 1998). This was done by a registered otolaryngologist via an endoscopic procedure to ensure biopsy samples were taken from the superior, posterior region of the nasal septum close to the cribriform plate. Pieces of olfactory mucosa were obtained which contain stem cells in the olfactory epithelium. The stem cell population derived from human olfactory mucosa has been described as ecto-mesenchymal (Delorme et al., 2010) because it has characteristics of both neural and mesenchymal stem cells, suggesting a neural crest origin." []	562061	\N	\N	EFO	2	EFO	cell line	olfactory neurosphere cell line
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005705	"Nasal biopsies were collected from volunteer donors as an outpatient procedure as described (Feron et al., 1998). This was done by a registered otolaryngologist via an endoscopic procedure to ensure biopsy samples were taken from the superior, posterior region of the nasal septum close to the cribriform plate. Pieces of olfactory mucosa were obtained which contain stem cells in the olfactory epithelium. The stem cell population derived from human olfactory mucosa has been described as ecto-mesenchymal (Delorme et al., 2010) because it has characteristics of both neural and mesenchymal stem cells, suggesting a neural crest origin." []	562062	\N	\N	EFO	2	EFO	cell line	olfactory neurosphere cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005705	"Nasal biopsies were collected from volunteer donors as an outpatient procedure as described (Feron et al., 1998). This was done by a registered otolaryngologist via an endoscopic procedure to ensure biopsy samples were taken from the superior, posterior region of the nasal septum close to the cribriform plate. Pieces of olfactory mucosa were obtained which contain stem cells in the olfactory epithelium. The stem cell population derived from human olfactory mucosa has been described as ecto-mesenchymal (Delorme et al., 2010) because it has characteristics of both neural and mesenchymal stem cells, suggesting a neural crest origin." []	1143686	\N	\N	EFO	3	EFO	material entity	olfactory neurosphere cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005705	"Nasal biopsies were collected from volunteer donors as an outpatient procedure as described (Feron et al., 1998). This was done by a registered otolaryngologist via an endoscopic procedure to ensure biopsy samples were taken from the superior, posterior region of the nasal septum close to the cribriform plate. Pieces of olfactory mucosa were obtained which contain stem cells in the olfactory epithelium. The stem cell population derived from human olfactory mucosa has been described as ecto-mesenchymal (Delorme et al., 2010) because it has characteristics of both neural and mesenchymal stem cells, suggesting a neural crest origin." []	2026327	\N	\N	EFO	4	EFO	experimental factor	olfactory neurosphere cell line
EFO:0005706	\N	\N	"This cell line was from a melanoma metastasis tumor taken from the subcutaneous shoulder of an individual. Cell line was derived by Dr. Yardena Samuels (samuelsy" []	EFO:0005706	"This cell line was from a melanoma metastasis tumor taken from the subcutaneous shoulder of an individual. Cell line was derived by Dr. Yardena Samuels (samuelsy" []	67383	\N	\N	EFO	0	EFO	Mel-2183	Mel-2183
BTO:0000849	EFO:0005706	\N	"" []	EFO:0005706	"This cell line was from a melanoma metastasis tumor taken from the subcutaneous shoulder of an individual. Cell line was derived by Dr. Yardena Samuels (samuelsy" []	208887	\N	\N	EFO	1	EFO	melanoma cell line	Mel-2183
EFO:0001641	EFO:0005706	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005706	"This cell line was from a melanoma metastasis tumor taken from the subcutaneous shoulder of an individual. Cell line was derived by Dr. Yardena Samuels (samuelsy" []	208888	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Mel-2183
EFO:0002888	EFO:0005706	\N	"" []	EFO:0005706	"This cell line was from a melanoma metastasis tumor taken from the subcutaneous shoulder of an individual. Cell line was derived by Dr. Yardena Samuels (samuelsy" []	208889	\N	\N	EFO	1	EFO	Homo sapiens cell line	Mel-2183
EFO:0001639	BTO:0000849	\N	"" []	EFO:0005706	"This cell line was from a melanoma metastasis tumor taken from the subcutaneous shoulder of an individual. Cell line was derived by Dr. Yardena Samuels (samuelsy" []	562063	\N	\N	EFO	2	EFO	cancer cell line	Mel-2183
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005706	"This cell line was from a melanoma metastasis tumor taken from the subcutaneous shoulder of an individual. Cell line was derived by Dr. Yardena Samuels (samuelsy" []	562064	\N	\N	EFO	2	EFO	cell line	Mel-2183
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005706	"This cell line was from a melanoma metastasis tumor taken from the subcutaneous shoulder of an individual. Cell line was derived by Dr. Yardena Samuels (samuelsy" []	562065	\N	\N	EFO	2	EFO	cell line	Mel-2183
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005706	"This cell line was from a melanoma metastasis tumor taken from the subcutaneous shoulder of an individual. Cell line was derived by Dr. Yardena Samuels (samuelsy" []	1143687	\N	\N	EFO	3	EFO	cell line	Mel-2183
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005706	"This cell line was from a melanoma metastasis tumor taken from the subcutaneous shoulder of an individual. Cell line was derived by Dr. Yardena Samuels (samuelsy" []	2026328	\N	\N	EFO	4	EFO	material entity	Mel-2183
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005706	"This cell line was from a melanoma metastasis tumor taken from the subcutaneous shoulder of an individual. Cell line was derived by Dr. Yardena Samuels (samuelsy" []	2999661	\N	\N	EFO	5	EFO	experimental factor	Mel-2183
EFO:0005707	\N	\N	"This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." []	EFO:0005707	"This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." []	67384	\N	\N	EFO	0	EFO	786-0	786-0
EFO:0001639	EFO:0005707	\N	"" []	EFO:0005707	"This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." []	208890	\N	\N	EFO	1	EFO	cancer cell line	786-0
EFO:0001641	EFO:0005707	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005707	"This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." []	208891	\N	\N	EFO	1	EFO	epithelial cell derived cell line	786-0
EFO:0001643	EFO:0005707	\N	"" []	EFO:0005707	"This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." []	208892	\N	\N	EFO	1	EFO	kidney derived cell line	786-0
EFO:0002888	EFO:0005707	\N	"" []	EFO:0005707	"This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." []	208893	\N	\N	EFO	1	EFO	Homo sapiens cell line	786-0
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005707	"This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." []	562066	\N	\N	EFO	2	EFO	cell line	786-0
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005707	"This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." []	562067	\N	\N	EFO	2	EFO	cell line	786-0
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005707	"This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." []	562068	\N	\N	EFO	2	EFO	cell line	786-0
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005707	"This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." []	562069	\N	\N	EFO	2	EFO	cell line	786-0
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005707	"This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." []	1143689	\N	\N	EFO	3	EFO	material entity	786-0
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005707	"This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors." []	2026330	\N	\N	EFO	4	EFO	experimental factor	786-0
EFO:0005708	\N	\N	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	67385	\N	\N	EFO	0	EFO	renal cell adenocarcinoma	renal cell adenocarcinoma
EFO:0000228	EFO:0005708	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	208894	\N	\N	EFO	1	EFO	adenocarcinoma	renal cell adenocarcinoma
EFO:0002890	EFO:0005708	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	208895	\N	\N	EFO	1	EFO	renal carcinoma	renal cell adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	562070	\N	\N	EFO	2	EFO	carcinoma	renal cell adenocarcinoma
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	562071	\N	\N	EFO	2	EFO	carcinoma	renal cell adenocarcinoma
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	562072	\N	\N	EFO	2	EFO	kidney neoplasm	renal cell adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	1143690	\N	\N	EFO	3	EFO	cancer	renal cell adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	1143691	\N	\N	EFO	3	EFO	epithelial neoplasm	renal cell adenocarcinoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	1143692	\N	\N	EFO	3	EFO	kidney disease	renal cell adenocarcinoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	1143693	\N	\N	EFO	3	EFO	urogenital neoplasm	renal cell adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	2026331	\N	\N	EFO	4	EFO	neoplasm	renal cell adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	2026332	\N	\N	EFO	4	EFO	neoplasm	renal cell adenocarcinoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	2026333	\N	\N	EFO	4	EFO	disease	renal cell adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	2026334	\N	\N	EFO	4	EFO	neoplasm	renal cell adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	3178546	\N	\N	EFO	5	EFO	disease	renal cell adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	4388294	\N	\N	EFO	6	EFO	disposition	renal cell adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	5181010	\N	\N	EFO	7	EFO	material property	renal cell adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005708	"A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." []	5996616	\N	\N	EFO	8	EFO	experimental factor	renal cell adenocarcinoma
EFO:0005709	\N	\N	"First trimester human trophoblast cells established by immortalizing a physiologic extravillous trophoblast cell via transfection with a plasmid containing the simian virus 40 large T antigen (SV40) (see Graham et al., 1993). Cells are a thin layer of ectoderm that forms the wall of many mammalian blastulas and functions in the nutrition and implantation of the embryo." []	EFO:0005709	"First trimester human trophoblast cells established by immortalizing a physiologic extravillous trophoblast cell via transfection with a plasmid containing the simian virus 40 large T antigen (SV40) (see Graham et al., 1993). Cells are a thin layer of ectoderm that forms the wall of many mammalian blastulas and functions in the nutrition and implantation of the embryo." []	67386	\N	\N	EFO	0	EFO	HTR8/SVneo	HTR8/SVneo
EFO:0002888	EFO:0005709	\N	"" []	EFO:0005709	"First trimester human trophoblast cells established by immortalizing a physiologic extravillous trophoblast cell via transfection with a plasmid containing the simian virus 40 large T antigen (SV40) (see Graham et al., 1993). Cells are a thin layer of ectoderm that forms the wall of many mammalian blastulas and functions in the nutrition and implantation of the embryo." []	208896	\N	\N	EFO	1	EFO	Homo sapiens cell line	HTR8/SVneo
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005709	"First trimester human trophoblast cells established by immortalizing a physiologic extravillous trophoblast cell via transfection with a plasmid containing the simian virus 40 large T antigen (SV40) (see Graham et al., 1993). Cells are a thin layer of ectoderm that forms the wall of many mammalian blastulas and functions in the nutrition and implantation of the embryo." []	562073	\N	\N	EFO	2	EFO	cell line	HTR8/SVneo
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005709	"First trimester human trophoblast cells established by immortalizing a physiologic extravillous trophoblast cell via transfection with a plasmid containing the simian virus 40 large T antigen (SV40) (see Graham et al., 1993). Cells are a thin layer of ectoderm that forms the wall of many mammalian blastulas and functions in the nutrition and implantation of the embryo." []	1143694	\N	\N	EFO	3	EFO	material entity	HTR8/SVneo
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005709	"First trimester human trophoblast cells established by immortalizing a physiologic extravillous trophoblast cell via transfection with a plasmid containing the simian virus 40 large T antigen (SV40) (see Graham et al., 1993). Cells are a thin layer of ectoderm that forms the wall of many mammalian blastulas and functions in the nutrition and implantation of the embryo." []	2026335	\N	\N	EFO	4	EFO	experimental factor	HTR8/SVneo
EFO:0005710	\N	\N	"This is an adherent cell line. HFF-Myc are human foreskin fibroblasts containing a virally integrated vector expressing the canine cMyc gene. Cells were received from Dr. Beverly Torok-Storb, Fred Hutchison Cancer Research Center, Seattle, WA." []	EFO:0005710	"This is an adherent cell line. HFF-Myc are human foreskin fibroblasts containing a virally integrated vector expressing the canine cMyc gene. Cells were received from Dr. Beverly Torok-Storb, Fred Hutchison Cancer Research Center, Seattle, WA." []	67387	\N	\N	EFO	0	EFO	HFF-Myc	HFF-Myc
EFO:0000322	EFO:0005710	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005710	"This is an adherent cell line. HFF-Myc are human foreskin fibroblasts containing a virally integrated vector expressing the canine cMyc gene. Cells were received from Dr. Beverly Torok-Storb, Fred Hutchison Cancer Research Center, Seattle, WA." []	208897	\N	\N	EFO	1	EFO	cell line	HFF-Myc
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005710	"This is an adherent cell line. HFF-Myc are human foreskin fibroblasts containing a virally integrated vector expressing the canine cMyc gene. Cells were received from Dr. Beverly Torok-Storb, Fred Hutchison Cancer Research Center, Seattle, WA." []	562074	\N	\N	EFO	2	EFO	material entity	HFF-Myc
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005710	"This is an adherent cell line. HFF-Myc are human foreskin fibroblasts containing a virally integrated vector expressing the canine cMyc gene. Cells were received from Dr. Beverly Torok-Storb, Fred Hutchison Cancer Research Center, Seattle, WA." []	1143695	\N	\N	EFO	3	EFO	experimental factor	HFF-Myc
EFO:0005711	\N	\N	"Normal benign adult human pancreatic duct cells immortalized with E6E7 gene of HPV-16. HPDE6-E6E7 cells demonstrated a near normal genotype and phenotype of pancreatic duct epithelial cells. [PMC1861644]" []	EFO:0005711	"Normal benign adult human pancreatic duct cells immortalized with E6E7 gene of HPV-16. HPDE6-E6E7 cells demonstrated a near normal genotype and phenotype of pancreatic duct epithelial cells. [PMC1861644]" []	67388	\N	\N	EFO	0	EFO	HPDE6-E6E7	HPDE6-E6E7
EFO:0001641	EFO:0005711	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005711	"Normal benign adult human pancreatic duct cells immortalized with E6E7 gene of HPV-16. HPDE6-E6E7 cells demonstrated a near normal genotype and phenotype of pancreatic duct epithelial cells. [PMC1861644]" []	208898	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HPDE6-E6E7
EFO:0002888	EFO:0005711	\N	"" []	EFO:0005711	"Normal benign adult human pancreatic duct cells immortalized with E6E7 gene of HPV-16. HPDE6-E6E7 cells demonstrated a near normal genotype and phenotype of pancreatic duct epithelial cells. [PMC1861644]" []	208899	\N	\N	EFO	1	EFO	Homo sapiens cell line	HPDE6-E6E7
EFO:0002922	EFO:0005711	\N	"" []	EFO:0005711	"Normal benign adult human pancreatic duct cells immortalized with E6E7 gene of HPV-16. HPDE6-E6E7 cells demonstrated a near normal genotype and phenotype of pancreatic duct epithelial cells. [PMC1861644]" []	208900	\N	\N	EFO	1	EFO	normal cell line	HPDE6-E6E7
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005711	"Normal benign adult human pancreatic duct cells immortalized with E6E7 gene of HPV-16. HPDE6-E6E7 cells demonstrated a near normal genotype and phenotype of pancreatic duct epithelial cells. [PMC1861644]" []	562075	\N	\N	EFO	2	EFO	cell line	HPDE6-E6E7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005711	"Normal benign adult human pancreatic duct cells immortalized with E6E7 gene of HPV-16. HPDE6-E6E7 cells demonstrated a near normal genotype and phenotype of pancreatic duct epithelial cells. [PMC1861644]" []	562076	\N	\N	EFO	2	EFO	cell line	HPDE6-E6E7
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005711	"Normal benign adult human pancreatic duct cells immortalized with E6E7 gene of HPV-16. HPDE6-E6E7 cells demonstrated a near normal genotype and phenotype of pancreatic duct epithelial cells. [PMC1861644]" []	562077	\N	\N	EFO	2	EFO	cell line	HPDE6-E6E7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005711	"Normal benign adult human pancreatic duct cells immortalized with E6E7 gene of HPV-16. HPDE6-E6E7 cells demonstrated a near normal genotype and phenotype of pancreatic duct epithelial cells. [PMC1861644]" []	1143696	\N	\N	EFO	3	EFO	material entity	HPDE6-E6E7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005711	"Normal benign adult human pancreatic duct cells immortalized with E6E7 gene of HPV-16. HPDE6-E6E7 cells demonstrated a near normal genotype and phenotype of pancreatic duct epithelial cells. [PMC1861644]" []	2026336	\N	\N	EFO	4	EFO	experimental factor	HPDE6-E6E7
EFO:0005712	\N	\N	"Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." []	EFO:0005712	"Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." []	67389	\N	\N	EFO	0	EFO	RPMI-7951	RPMI-7951
BTO:0000849	EFO:0005712	\N	"" []	EFO:0005712	"Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." []	208901	\N	\N	EFO	1	EFO	melanoma cell line	RPMI-7951
EFO:0001641	EFO:0005712	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005712	"Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." []	208902	\N	\N	EFO	1	EFO	epithelial cell derived cell line	RPMI-7951
EFO:0002888	EFO:0005712	\N	"" []	EFO:0005712	"Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." []	208903	\N	\N	EFO	1	EFO	Homo sapiens cell line	RPMI-7951
EFO:0001639	BTO:0000849	\N	"" []	EFO:0005712	"Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." []	562078	\N	\N	EFO	2	EFO	cancer cell line	RPMI-7951
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005712	"Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." []	562079	\N	\N	EFO	2	EFO	cell line	RPMI-7951
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005712	"Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." []	562080	\N	\N	EFO	2	EFO	cell line	RPMI-7951
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005712	"Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." []	1143697	\N	\N	EFO	3	EFO	cell line	RPMI-7951
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005712	"Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." []	2026337	\N	\N	EFO	4	EFO	material entity	RPMI-7951
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005712	"Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." []	2999662	\N	\N	EFO	5	EFO	experimental factor	RPMI-7951
EFO:0005713	\N	\N	"Human pancreas adenocarcinoma (PA-TU-8988T), \\"established in 1985 from the liver metastasis of a primary pancreatic adenocarcinoma from a 64-year-old woman; sister cell line of PA-TU-8988S\\" - DSMZ." []	EFO:0005713	"Human pancreas adenocarcinoma (PA-TU-8988T), \\"established in 1985 from the liver metastasis of a primary pancreatic adenocarcinoma from a 64-year-old woman; sister cell line of PA-TU-8988S\\" - DSMZ." []	67390	\N	\N	EFO	0	EFO	8988T	8988T
EFO:0001639	EFO:0005713	\N	"" []	EFO:0005713	"Human pancreas adenocarcinoma (PA-TU-8988T), \\"established in 1985 from the liver metastasis of a primary pancreatic adenocarcinoma from a 64-year-old woman; sister cell line of PA-TU-8988S\\" - DSMZ." []	208904	\N	\N	EFO	1	EFO	cancer cell line	8988T
EFO:0002888	EFO:0005713	\N	"" []	EFO:0005713	"Human pancreas adenocarcinoma (PA-TU-8988T), \\"established in 1985 from the liver metastasis of a primary pancreatic adenocarcinoma from a 64-year-old woman; sister cell line of PA-TU-8988S\\" - DSMZ." []	208905	\N	\N	EFO	1	EFO	Homo sapiens cell line	8988T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005713	"Human pancreas adenocarcinoma (PA-TU-8988T), \\"established in 1985 from the liver metastasis of a primary pancreatic adenocarcinoma from a 64-year-old woman; sister cell line of PA-TU-8988S\\" - DSMZ." []	562081	\N	\N	EFO	2	EFO	cell line	8988T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005713	"Human pancreas adenocarcinoma (PA-TU-8988T), \\"established in 1985 from the liver metastasis of a primary pancreatic adenocarcinoma from a 64-year-old woman; sister cell line of PA-TU-8988S\\" - DSMZ." []	562082	\N	\N	EFO	2	EFO	cell line	8988T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005713	"Human pancreas adenocarcinoma (PA-TU-8988T), \\"established in 1985 from the liver metastasis of a primary pancreatic adenocarcinoma from a 64-year-old woman; sister cell line of PA-TU-8988S\\" - DSMZ." []	1143699	\N	\N	EFO	3	EFO	material entity	8988T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005713	"Human pancreas adenocarcinoma (PA-TU-8988T), \\"established in 1985 from the liver metastasis of a primary pancreatic adenocarcinoma from a 64-year-old woman; sister cell line of PA-TU-8988S\\" - DSMZ." []	2026339	\N	\N	EFO	4	EFO	experimental factor	8988T
EFO:0005714	\N	\N	"Skeletal myoblasts derived from satellite cells from the pectoralis major muscle of a 41 year old caucasian heart transplant donor, immortalized with lox-hygro-hTERT (LH), and Cdk4-neo (CN), Zhu et al. (2007) in Aging Cell, vol. 6, pp 515-523. M2 is an extremely well-differentiating subclone of LHCN (thus \\"LHCN-M2\\")." []	EFO:0005714	"Skeletal myoblasts derived from satellite cells from the pectoralis major muscle of a 41 year old caucasian heart transplant donor, immortalized with lox-hygro-hTERT (LH), and Cdk4-neo (CN), Zhu et al. (2007) in Aging Cell, vol. 6, pp 515-523. M2 is an extremely well-differentiating subclone of LHCN (thus \\"LHCN-M2\\")." []	67391	\N	\N	EFO	0	EFO	LHCN-M2	LHCN-M2
BTO:0000256	\N	\N	"Cell lines derived from myoblast cells" []	EFO:0005714	"Skeletal myoblasts derived from satellite cells from the pectoralis major muscle of a 41 year old caucasian heart transplant donor, immortalized with lox-hygro-hTERT (LH), and Cdk4-neo (CN), Zhu et al. (2007) in Aging Cell, vol. 6, pp 515-523. M2 is an extremely well-differentiating subclone of LHCN (thus \\"LHCN-M2\\")." []	194752	\N	\N	EFO	0	EFO	myoblast cell line	LHCN-M2
EFO:0002888	EFO:0005714	\N	"" []	EFO:0005714	"Skeletal myoblasts derived from satellite cells from the pectoralis major muscle of a 41 year old caucasian heart transplant donor, immortalized with lox-hygro-hTERT (LH), and Cdk4-neo (CN), Zhu et al. (2007) in Aging Cell, vol. 6, pp 515-523. M2 is an extremely well-differentiating subclone of LHCN (thus \\"LHCN-M2\\")." []	208906	\N	\N	EFO	1	EFO	Homo sapiens cell line	LHCN-M2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005714	"Skeletal myoblasts derived from satellite cells from the pectoralis major muscle of a 41 year old caucasian heart transplant donor, immortalized with lox-hygro-hTERT (LH), and Cdk4-neo (CN), Zhu et al. (2007) in Aging Cell, vol. 6, pp 515-523. M2 is an extremely well-differentiating subclone of LHCN (thus \\"LHCN-M2\\")." []	562083	\N	\N	EFO	2	EFO	cell line	LHCN-M2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005714	"Skeletal myoblasts derived from satellite cells from the pectoralis major muscle of a 41 year old caucasian heart transplant donor, immortalized with lox-hygro-hTERT (LH), and Cdk4-neo (CN), Zhu et al. (2007) in Aging Cell, vol. 6, pp 515-523. M2 is an extremely well-differentiating subclone of LHCN (thus \\"LHCN-M2\\")." []	1143700	\N	\N	EFO	3	EFO	material entity	LHCN-M2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005714	"Skeletal myoblasts derived from satellite cells from the pectoralis major muscle of a 41 year old caucasian heart transplant donor, immortalized with lox-hygro-hTERT (LH), and Cdk4-neo (CN), Zhu et al. (2007) in Aging Cell, vol. 6, pp 515-523. M2 is an extremely well-differentiating subclone of LHCN (thus \\"LHCN-M2\\")." []	2026340	\N	\N	EFO	4	EFO	experimental factor	LHCN-M2
EFO:0005715	\N	\N	"The WERI-Rb-1 line is one of two human retinoblastoma cell lines established in 1974 by R.M. McFall and T.W. Sery. This is a near diploid line. The modal chromosome number is 47 occurring at 38%, and the rate of polyploidy is 9%. Cells are grape-like clusters of round cells in suspension." []	EFO:0005715	"The WERI-Rb-1 line is one of two human retinoblastoma cell lines established in 1974 by R.M. McFall and T.W. Sery. This is a near diploid line. The modal chromosome number is 47 occurring at 38%, and the rate of polyploidy is 9%. Cells are grape-like clusters of round cells in suspension." []	67392	\N	\N	EFO	0	EFO	WERI-Rb-1	WERI-Rb-1
EFO:0001639	EFO:0005715	\N	"" []	EFO:0005715	"The WERI-Rb-1 line is one of two human retinoblastoma cell lines established in 1974 by R.M. McFall and T.W. Sery. This is a near diploid line. The modal chromosome number is 47 occurring at 38%, and the rate of polyploidy is 9%. Cells are grape-like clusters of round cells in suspension." []	208907	\N	\N	EFO	1	EFO	cancer cell line	WERI-Rb-1
EFO:0002888	EFO:0005715	\N	"" []	EFO:0005715	"The WERI-Rb-1 line is one of two human retinoblastoma cell lines established in 1974 by R.M. McFall and T.W. Sery. This is a near diploid line. The modal chromosome number is 47 occurring at 38%, and the rate of polyploidy is 9%. Cells are grape-like clusters of round cells in suspension." []	208908	\N	\N	EFO	1	EFO	Homo sapiens cell line	WERI-Rb-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005715	"The WERI-Rb-1 line is one of two human retinoblastoma cell lines established in 1974 by R.M. McFall and T.W. Sery. This is a near diploid line. The modal chromosome number is 47 occurring at 38%, and the rate of polyploidy is 9%. Cells are grape-like clusters of round cells in suspension." []	562084	\N	\N	EFO	2	EFO	cell line	WERI-Rb-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005715	"The WERI-Rb-1 line is one of two human retinoblastoma cell lines established in 1974 by R.M. McFall and T.W. Sery. This is a near diploid line. The modal chromosome number is 47 occurring at 38%, and the rate of polyploidy is 9%. Cells are grape-like clusters of round cells in suspension." []	562085	\N	\N	EFO	2	EFO	cell line	WERI-Rb-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005715	"The WERI-Rb-1 line is one of two human retinoblastoma cell lines established in 1974 by R.M. McFall and T.W. Sery. This is a near diploid line. The modal chromosome number is 47 occurring at 38%, and the rate of polyploidy is 9%. Cells are grape-like clusters of round cells in suspension." []	1143701	\N	\N	EFO	3	EFO	material entity	WERI-Rb-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005715	"The WERI-Rb-1 line is one of two human retinoblastoma cell lines established in 1974 by R.M. McFall and T.W. Sery. This is a near diploid line. The modal chromosome number is 47 occurring at 38%, and the rate of polyploidy is 9%. Cells are grape-like clusters of round cells in suspension." []	2026341	\N	\N	EFO	4	EFO	experimental factor	WERI-Rb-1
EFO:0005716	\N	\N	"Malignant neoplasm of retina." []	EFO:0005716	"Malignant neoplasm of retina." []	67393	\N	\N	EFO	0	EFO	retinal cancer	retinal cancer
EFO:0000326	EFO:0005716	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0005716	"Malignant neoplasm of retina." []	208909	\N	\N	EFO	1	EFO	central nervous system cancer	retinal cancer
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005716	"Malignant neoplasm of retina." []	562086	\N	\N	EFO	2	EFO	cancer	retinal cancer
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005716	"Malignant neoplasm of retina." []	562087	\N	\N	EFO	2	EFO	nervous system disease	retinal cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005716	"Malignant neoplasm of retina." []	1143702	\N	\N	EFO	3	EFO	neoplasm	retinal cancer
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005716	"Malignant neoplasm of retina." []	1143703	\N	\N	EFO	3	EFO	disease	retinal cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005716	"Malignant neoplasm of retina." []	2026342	\N	\N	EFO	4	EFO	disease	retinal cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005716	"Malignant neoplasm of retina." []	3178548	\N	\N	EFO	5	EFO	disposition	retinal cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005716	"Malignant neoplasm of retina." []	4132688	\N	\N	EFO	6	EFO	material property	retinal cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005716	"Malignant neoplasm of retina." []	5181011	\N	\N	EFO	7	EFO	experimental factor	retinal cancer
EFO:0005717	\N	\N	"A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. OMIM mapping confirmed by DO. [LS]." []	EFO:0005717	"A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. OMIM mapping confirmed by DO. [LS]." []	67394	\N	\N	EFO	0	EFO	retinoblastoma (nonhereditary)	retinoblastoma (nonhereditary)
EFO:0005716	EFO:0005717	\N	"Malignant neoplasm of retina." []	EFO:0005717	"A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. OMIM mapping confirmed by DO. [LS]." []	208910	\N	\N	EFO	1	EFO	retinal cancer	retinoblastoma (nonhereditary)
EFO:0000326	EFO:0005716	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0005717	"A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. OMIM mapping confirmed by DO. [LS]." []	562088	\N	\N	EFO	2	EFO	central nervous system cancer	retinoblastoma (nonhereditary)
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005717	"A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. OMIM mapping confirmed by DO. [LS]." []	1143704	\N	\N	EFO	3	EFO	cancer	retinoblastoma (nonhereditary)
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005717	"A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. OMIM mapping confirmed by DO. [LS]." []	1143705	\N	\N	EFO	3	EFO	nervous system disease	retinoblastoma (nonhereditary)
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005717	"A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. OMIM mapping confirmed by DO. [LS]." []	2026344	\N	\N	EFO	4	EFO	neoplasm	retinoblastoma (nonhereditary)
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005717	"A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. OMIM mapping confirmed by DO. [LS]." []	2026345	\N	\N	EFO	4	EFO	disease	retinoblastoma (nonhereditary)
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005717	"A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. OMIM mapping confirmed by DO. [LS]." []	3178550	\N	\N	EFO	5	EFO	disease	retinoblastoma (nonhereditary)
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005717	"A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. OMIM mapping confirmed by DO. [LS]." []	4388297	\N	\N	EFO	6	EFO	disposition	retinoblastoma (nonhereditary)
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005717	"A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. OMIM mapping confirmed by DO. [LS]." []	5181012	\N	\N	EFO	7	EFO	material property	retinoblastoma (nonhereditary)
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005717	"A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. OMIM mapping confirmed by DO. [LS]." []	5996617	\N	\N	EFO	8	EFO	experimental factor	retinoblastoma (nonhereditary)
EFO:0005718	\N	\N	"\\"The cell line Ishikawa was established from an endometrial adenocarcinoma of a 39 year old woman. Cells can be commercially obtained from Sigma (99040201-1VL). However, it should be noted that the original source of these cells (M. Nashide, Japan) can spontaneously lose the progesterone and \\nestrogen receptor. For details, see Nishida M., The Ishikawa cells from birth to the \\npresent. Hum Cell. 2002 Sep;15(3):104-17.\\"" []	EFO:0005718	"\\"The cell line Ishikawa was established from an endometrial adenocarcinoma of a 39 year old woman. Cells can be commercially obtained from Sigma (99040201-1VL). However, it should be noted that the original source of these cells (M. Nashide, Japan) can spontaneously lose the progesterone and \\nestrogen receptor. For details, see Nishida M., The Ishikawa cells from birth to the \\npresent. Hum Cell. 2002 Sep;15(3):104-17.\\"" []	67395	\N	\N	EFO	0	EFO	Ishikawa	Ishikawa
EFO:0001639	EFO:0005718	\N	"" []	EFO:0005718	"\\"The cell line Ishikawa was established from an endometrial adenocarcinoma of a 39 year old woman. Cells can be commercially obtained from Sigma (99040201-1VL). However, it should be noted that the original source of these cells (M. Nashide, Japan) can spontaneously lose the progesterone and \\nestrogen receptor. For details, see Nishida M., The Ishikawa cells from birth to the \\npresent. Hum Cell. 2002 Sep;15(3):104-17.\\"" []	208911	\N	\N	EFO	1	EFO	cancer cell line	Ishikawa
EFO:0002888	EFO:0005718	\N	"" []	EFO:0005718	"\\"The cell line Ishikawa was established from an endometrial adenocarcinoma of a 39 year old woman. Cells can be commercially obtained from Sigma (99040201-1VL). However, it should be noted that the original source of these cells (M. Nashide, Japan) can spontaneously lose the progesterone and \\nestrogen receptor. For details, see Nishida M., The Ishikawa cells from birth to the \\npresent. Hum Cell. 2002 Sep;15(3):104-17.\\"" []	208912	\N	\N	EFO	1	EFO	Homo sapiens cell line	Ishikawa
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005718	"\\"The cell line Ishikawa was established from an endometrial adenocarcinoma of a 39 year old woman. Cells can be commercially obtained from Sigma (99040201-1VL). However, it should be noted that the original source of these cells (M. Nashide, Japan) can spontaneously lose the progesterone and \\nestrogen receptor. For details, see Nishida M., The Ishikawa cells from birth to the \\npresent. Hum Cell. 2002 Sep;15(3):104-17.\\"" []	562089	\N	\N	EFO	2	EFO	cell line	Ishikawa
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005718	"\\"The cell line Ishikawa was established from an endometrial adenocarcinoma of a 39 year old woman. Cells can be commercially obtained from Sigma (99040201-1VL). However, it should be noted that the original source of these cells (M. Nashide, Japan) can spontaneously lose the progesterone and \\nestrogen receptor. For details, see Nishida M., The Ishikawa cells from birth to the \\npresent. Hum Cell. 2002 Sep;15(3):104-17.\\"" []	562090	\N	\N	EFO	2	EFO	cell line	Ishikawa
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005718	"\\"The cell line Ishikawa was established from an endometrial adenocarcinoma of a 39 year old woman. Cells can be commercially obtained from Sigma (99040201-1VL). However, it should be noted that the original source of these cells (M. Nashide, Japan) can spontaneously lose the progesterone and \\nestrogen receptor. For details, see Nishida M., The Ishikawa cells from birth to the \\npresent. Hum Cell. 2002 Sep;15(3):104-17.\\"" []	1143706	\N	\N	EFO	3	EFO	material entity	Ishikawa
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005718	"\\"The cell line Ishikawa was established from an endometrial adenocarcinoma of a 39 year old woman. Cells can be commercially obtained from Sigma (99040201-1VL). However, it should be noted that the original source of these cells (M. Nashide, Japan) can spontaneously lose the progesterone and \\nestrogen receptor. For details, see Nishida M., The Ishikawa cells from birth to the \\npresent. Hum Cell. 2002 Sep;15(3):104-17.\\"" []	2026346	\N	\N	EFO	4	EFO	experimental factor	Ishikawa
EFO:0005719	\N	\N	"Established from a pleural effusion of 73 year-old woman diagnosed with B-cell non-Hodgkin lymphoma (intra-abdominal, diffuse large cell lymphoma, refractory, terminal). Cells are available from Dr Abraham Karpas, Department of Haematology, University of Cambridge, and are round and polygonal, growing in suspension. [PMID: 2297573]" []	EFO:0005719	"Established from a pleural effusion of 73 year-old woman diagnosed with B-cell non-Hodgkin lymphoma (intra-abdominal, diffuse large cell lymphoma, refractory, terminal). Cells are available from Dr Abraham Karpas, Department of Haematology, University of Cambridge, and are round and polygonal, growing in suspension. [PMID: 2297573]" []	67396	\N	\N	EFO	0	EFO	Karpas 422	Karpas 422
EFO:0001640	EFO:0005719	\N	"" []	EFO:0005719	"Established from a pleural effusion of 73 year-old woman diagnosed with B-cell non-Hodgkin lymphoma (intra-abdominal, diffuse large cell lymphoma, refractory, terminal). Cells are available from Dr Abraham Karpas, Department of Haematology, University of Cambridge, and are round and polygonal, growing in suspension. [PMID: 2297573]" []	208913	\N	\N	EFO	1	EFO	B cell derived cell line	Karpas 422
EFO:0002888	EFO:0005719	\N	"" []	EFO:0005719	"Established from a pleural effusion of 73 year-old woman diagnosed with B-cell non-Hodgkin lymphoma (intra-abdominal, diffuse large cell lymphoma, refractory, terminal). Cells are available from Dr Abraham Karpas, Department of Haematology, University of Cambridge, and are round and polygonal, growing in suspension. [PMID: 2297573]" []	208914	\N	\N	EFO	1	EFO	Homo sapiens cell line	Karpas 422
EFO:0002937	EFO:0005719	\N	"" []	EFO:0005719	"Established from a pleural effusion of 73 year-old woman diagnosed with B-cell non-Hodgkin lymphoma (intra-abdominal, diffuse large cell lymphoma, refractory, terminal). Cells are available from Dr Abraham Karpas, Department of Haematology, University of Cambridge, and are round and polygonal, growing in suspension. [PMID: 2297573]" []	208915	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	Karpas 422
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005719	"Established from a pleural effusion of 73 year-old woman diagnosed with B-cell non-Hodgkin lymphoma (intra-abdominal, diffuse large cell lymphoma, refractory, terminal). Cells are available from Dr Abraham Karpas, Department of Haematology, University of Cambridge, and are round and polygonal, growing in suspension. [PMID: 2297573]" []	562091	\N	\N	EFO	2	EFO	cell line	Karpas 422
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005719	"Established from a pleural effusion of 73 year-old woman diagnosed with B-cell non-Hodgkin lymphoma (intra-abdominal, diffuse large cell lymphoma, refractory, terminal). Cells are available from Dr Abraham Karpas, Department of Haematology, University of Cambridge, and are round and polygonal, growing in suspension. [PMID: 2297573]" []	562092	\N	\N	EFO	2	EFO	cell line	Karpas 422
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005719	"Established from a pleural effusion of 73 year-old woman diagnosed with B-cell non-Hodgkin lymphoma (intra-abdominal, diffuse large cell lymphoma, refractory, terminal). Cells are available from Dr Abraham Karpas, Department of Haematology, University of Cambridge, and are round and polygonal, growing in suspension. [PMID: 2297573]" []	562093	\N	\N	EFO	2	EFO	cancer cell line	Karpas 422
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005719	"Established from a pleural effusion of 73 year-old woman diagnosed with B-cell non-Hodgkin lymphoma (intra-abdominal, diffuse large cell lymphoma, refractory, terminal). Cells are available from Dr Abraham Karpas, Department of Haematology, University of Cambridge, and are round and polygonal, growing in suspension. [PMID: 2297573]" []	2026348	\N	\N	EFO	4	EFO	material entity	Karpas 422
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005719	"Established from a pleural effusion of 73 year-old woman diagnosed with B-cell non-Hodgkin lymphoma (intra-abdominal, diffuse large cell lymphoma, refractory, terminal). Cells are available from Dr Abraham Karpas, Department of Haematology, University of Cambridge, and are round and polygonal, growing in suspension. [PMID: 2297573]" []	1143708	\N	\N	EFO	3	EFO	cell line	Karpas 422
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005719	"Established from a pleural effusion of 73 year-old woman diagnosed with B-cell non-Hodgkin lymphoma (intra-abdominal, diffuse large cell lymphoma, refractory, terminal). Cells are available from Dr Abraham Karpas, Department of Haematology, University of Cambridge, and are round and polygonal, growing in suspension. [PMID: 2297573]" []	2999663	\N	\N	EFO	5	EFO	experimental factor	Karpas 422
EFO:0005720	\N	\N	"This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" []	EFO:0005720	"This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" []	67397	\N	\N	EFO	0	EFO	SK-MEL-5	SK-MEL-5
BTO:0000849	EFO:0005720	\N	"" []	EFO:0005720	"This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" []	208916	\N	\N	EFO	1	EFO	melanoma cell line	SK-MEL-5
EFO:0001641	EFO:0005720	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005720	"This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" []	208917	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SK-MEL-5
EFO:0002888	EFO:0005720	\N	"" []	EFO:0005720	"This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" []	208918	\N	\N	EFO	1	EFO	Homo sapiens cell line	SK-MEL-5
EFO:0001639	BTO:0000849	\N	"" []	EFO:0005720	"This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" []	562094	\N	\N	EFO	2	EFO	cancer cell line	SK-MEL-5
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005720	"This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" []	562095	\N	\N	EFO	2	EFO	cell line	SK-MEL-5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005720	"This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" []	562096	\N	\N	EFO	2	EFO	cell line	SK-MEL-5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005720	"This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" []	1143709	\N	\N	EFO	3	EFO	cell line	SK-MEL-5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005720	"This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" []	2026349	\N	\N	EFO	4	EFO	material entity	SK-MEL-5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005720	"This melanoma cell line was derived from a metastatic axillary node of the skin of a 24 year old female. It is a hyperpentaploid human cell line with the modal chromosome number of 120, occurring in 9% of cells. [PMID: 1067619]" []	2999664	\N	\N	EFO	5	EFO	experimental factor	SK-MEL-5
EFO:0005721	\N	\N	"SK-N-DZ is a neuroblastoma cell line derived in 1978 from a bone marrow metastasis from a child with poorly differentiated embryonal neuroblastoma." []	EFO:0005721	"SK-N-DZ is a neuroblastoma cell line derived in 1978 from a bone marrow metastasis from a child with poorly differentiated embryonal neuroblastoma." []	67398	\N	\N	EFO	0	EFO	SK-N-DZ	SK-N-DZ
EFO:0002886	EFO:0005721	\N	"Cell lines derived from stem cells." []	EFO:0005721	"SK-N-DZ is a neuroblastoma cell line derived in 1978 from a bone marrow metastasis from a child with poorly differentiated embryonal neuroblastoma." []	208919	\N	\N	EFO	1	EFO	stem cell derived cell line	SK-N-DZ
EFO:0002888	EFO:0005721	\N	"" []	EFO:0005721	"SK-N-DZ is a neuroblastoma cell line derived in 1978 from a bone marrow metastasis from a child with poorly differentiated embryonal neuroblastoma." []	208920	\N	\N	EFO	1	EFO	Homo sapiens cell line	SK-N-DZ
EFO:0005214	EFO:0005721	\N	"A cell line which is a model for neuroblastoma." []	EFO:0005721	"SK-N-DZ is a neuroblastoma cell line derived in 1978 from a bone marrow metastasis from a child with poorly differentiated embryonal neuroblastoma." []	208921	\N	\N	EFO	1	EFO	neuroblastoma cell line	SK-N-DZ
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005721	"SK-N-DZ is a neuroblastoma cell line derived in 1978 from a bone marrow metastasis from a child with poorly differentiated embryonal neuroblastoma." []	562097	\N	\N	EFO	2	EFO	cell line	SK-N-DZ
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005721	"SK-N-DZ is a neuroblastoma cell line derived in 1978 from a bone marrow metastasis from a child with poorly differentiated embryonal neuroblastoma." []	562098	\N	\N	EFO	2	EFO	cell line	SK-N-DZ
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005721	"SK-N-DZ is a neuroblastoma cell line derived in 1978 from a bone marrow metastasis from a child with poorly differentiated embryonal neuroblastoma." []	562099	\N	\N	EFO	2	EFO	cell line	SK-N-DZ
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005721	"SK-N-DZ is a neuroblastoma cell line derived in 1978 from a bone marrow metastasis from a child with poorly differentiated embryonal neuroblastoma." []	1143711	\N	\N	EFO	3	EFO	material entity	SK-N-DZ
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005721	"SK-N-DZ is a neuroblastoma cell line derived in 1978 from a bone marrow metastasis from a child with poorly differentiated embryonal neuroblastoma." []	2026351	\N	\N	EFO	4	EFO	experimental factor	SK-N-DZ
EFO:0005722	\N	\N	"The line was established from cells from the bone marrow of a child with rhabdomyosarcoma. Derived from a metastatic site of the bone marrow. The cells show ultrastructural elements of primitive skeletal muscle differentiation." []	EFO:0005722	"The line was established from cells from the bone marrow of a child with rhabdomyosarcoma. Derived from a metastatic site of the bone marrow. The cells show ultrastructural elements of primitive skeletal muscle differentiation." []	67399	\N	\N	EFO	0	EFO	SJCRH30	SJCRH30
EFO:0001639	EFO:0005722	\N	"" []	EFO:0005722	"The line was established from cells from the bone marrow of a child with rhabdomyosarcoma. Derived from a metastatic site of the bone marrow. The cells show ultrastructural elements of primitive skeletal muscle differentiation." []	208922	\N	\N	EFO	1	EFO	cancer cell line	SJCRH30
EFO:0002009	EFO:0005722	\N	"" []	EFO:0005722	"The line was established from cells from the bone marrow of a child with rhabdomyosarcoma. Derived from a metastatic site of the bone marrow. The cells show ultrastructural elements of primitive skeletal muscle differentiation." []	208923	\N	\N	EFO	1	EFO	fibroblast derived cell line	SJCRH30
EFO:0002888	EFO:0005722	\N	"" []	EFO:0005722	"The line was established from cells from the bone marrow of a child with rhabdomyosarcoma. Derived from a metastatic site of the bone marrow. The cells show ultrastructural elements of primitive skeletal muscle differentiation." []	208924	\N	\N	EFO	1	EFO	Homo sapiens cell line	SJCRH30
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005722	"The line was established from cells from the bone marrow of a child with rhabdomyosarcoma. Derived from a metastatic site of the bone marrow. The cells show ultrastructural elements of primitive skeletal muscle differentiation." []	562100	\N	\N	EFO	2	EFO	cell line	SJCRH30
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005722	"The line was established from cells from the bone marrow of a child with rhabdomyosarcoma. Derived from a metastatic site of the bone marrow. The cells show ultrastructural elements of primitive skeletal muscle differentiation." []	562101	\N	\N	EFO	2	EFO	cell line	SJCRH30
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005722	"The line was established from cells from the bone marrow of a child with rhabdomyosarcoma. Derived from a metastatic site of the bone marrow. The cells show ultrastructural elements of primitive skeletal muscle differentiation." []	562102	\N	\N	EFO	2	EFO	cell line	SJCRH30
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005722	"The line was established from cells from the bone marrow of a child with rhabdomyosarcoma. Derived from a metastatic site of the bone marrow. The cells show ultrastructural elements of primitive skeletal muscle differentiation." []	1143712	\N	\N	EFO	3	EFO	material entity	SJCRH30
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005722	"The line was established from cells from the bone marrow of a child with rhabdomyosarcoma. Derived from a metastatic site of the bone marrow. The cells show ultrastructural elements of primitive skeletal muscle differentiation." []	2026352	\N	\N	EFO	4	EFO	experimental factor	SJCRH30
EFO:0005723	\N	\N	"Fibroblasts taken from a skin punch of the arm" []	EFO:0005723	"Fibroblasts taken from a skin punch of the arm" []	67400	\N	\N	EFO	0	EFO	GM23248	GM23248
EFO:0002009	EFO:0005723	\N	"" []	EFO:0005723	"Fibroblasts taken from a skin punch of the arm" []	208925	\N	\N	EFO	1	EFO	fibroblast derived cell line	GM23248
EFO:0002888	EFO:0005723	\N	"" []	EFO:0005723	"Fibroblasts taken from a skin punch of the arm" []	208926	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM23248
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005723	"Fibroblasts taken from a skin punch of the arm" []	562103	\N	\N	EFO	2	EFO	cell line	GM23248
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005723	"Fibroblasts taken from a skin punch of the arm" []	562104	\N	\N	EFO	2	EFO	cell line	GM23248
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005723	"Fibroblasts taken from a skin punch of the arm" []	1143713	\N	\N	EFO	3	EFO	material entity	GM23248
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005723	"Fibroblasts taken from a skin punch of the arm" []	2026353	\N	\N	EFO	4	EFO	experimental factor	GM23248
EFO:0005724	\N	\N	"MM.1S is a B lymphoblast cell line derived in 1986. The parent cell line, MM.1, was established from peripheral blood of a multiple myeloma patient who had become resistant to steroid-based therapy. provide critical information about disease progression and the development of drug resistance. This cell line represents a valuable tool for elucidating the mechanisms of action of glucocorticoids and the development of new therapeutics. [PMID: 2926241]" []	EFO:0005724	"MM.1S is a B lymphoblast cell line derived in 1986. The parent cell line, MM.1, was established from peripheral blood of a multiple myeloma patient who had become resistant to steroid-based therapy. provide critical information about disease progression and the development of drug resistance. This cell line represents a valuable tool for elucidating the mechanisms of action of glucocorticoids and the development of new therapeutics. [PMID: 2926241]" []	67401	\N	\N	EFO	0	EFO	MM.1S	MM.1S
EFO:0001639	EFO:0005724	\N	"" []	EFO:0005724	"MM.1S is a B lymphoblast cell line derived in 1986. The parent cell line, MM.1, was established from peripheral blood of a multiple myeloma patient who had become resistant to steroid-based therapy. provide critical information about disease progression and the development of drug resistance. This cell line represents a valuable tool for elucidating the mechanisms of action of glucocorticoids and the development of new therapeutics. [PMID: 2926241]" []	208927	\N	\N	EFO	1	EFO	cancer cell line	MM.1S
EFO:0002888	EFO:0005724	\N	"" []	EFO:0005724	"MM.1S is a B lymphoblast cell line derived in 1986. The parent cell line, MM.1, was established from peripheral blood of a multiple myeloma patient who had become resistant to steroid-based therapy. provide critical information about disease progression and the development of drug resistance. This cell line represents a valuable tool for elucidating the mechanisms of action of glucocorticoids and the development of new therapeutics. [PMID: 2926241]" []	208928	\N	\N	EFO	1	EFO	Homo sapiens cell line	MM.1S
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005724	"MM.1S is a B lymphoblast cell line derived in 1986. The parent cell line, MM.1, was established from peripheral blood of a multiple myeloma patient who had become resistant to steroid-based therapy. provide critical information about disease progression and the development of drug resistance. This cell line represents a valuable tool for elucidating the mechanisms of action of glucocorticoids and the development of new therapeutics. [PMID: 2926241]" []	562105	\N	\N	EFO	2	EFO	cell line	MM.1S
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005724	"MM.1S is a B lymphoblast cell line derived in 1986. The parent cell line, MM.1, was established from peripheral blood of a multiple myeloma patient who had become resistant to steroid-based therapy. provide critical information about disease progression and the development of drug resistance. This cell line represents a valuable tool for elucidating the mechanisms of action of glucocorticoids and the development of new therapeutics. [PMID: 2926241]" []	562106	\N	\N	EFO	2	EFO	cell line	MM.1S
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005724	"MM.1S is a B lymphoblast cell line derived in 1986. The parent cell line, MM.1, was established from peripheral blood of a multiple myeloma patient who had become resistant to steroid-based therapy. provide critical information about disease progression and the development of drug resistance. This cell line represents a valuable tool for elucidating the mechanisms of action of glucocorticoids and the development of new therapeutics. [PMID: 2926241]" []	1143714	\N	\N	EFO	3	EFO	material entity	MM.1S
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005724	"MM.1S is a B lymphoblast cell line derived in 1986. The parent cell line, MM.1, was established from peripheral blood of a multiple myeloma patient who had become resistant to steroid-based therapy. provide critical information about disease progression and the development of drug resistance. This cell line represents a valuable tool for elucidating the mechanisms of action of glucocorticoids and the development of new therapeutics. [PMID: 2926241]" []	2026354	\N	\N	EFO	4	EFO	experimental factor	MM.1S
EFO:0005725	\N	\N	"BE(2)-C is a clone of the SK-N-BE(2) neuroblastoma cell line (ATCC CRL-2271) that was established in November of 1972 from a bone marrow biopsy taken from child with disseminated neuroblastoma after repeated courses of chemotherapy and radiotherapy. The cells grow as clusters of flattened neuroblastic cells with occasional fine cell processes (neurites). Unlike the parent line, they generally do not detach and float." []	EFO:0005725	"BE(2)-C is a clone of the SK-N-BE(2) neuroblastoma cell line (ATCC CRL-2271) that was established in November of 1972 from a bone marrow biopsy taken from child with disseminated neuroblastoma after repeated courses of chemotherapy and radiotherapy. The cells grow as clusters of flattened neuroblastic cells with occasional fine cell processes (neurites). Unlike the parent line, they generally do not detach and float." []	67402	\N	\N	EFO	0	EFO	BE(2)-C	BE(2)-C
EFO:0002886	EFO:0005725	\N	"Cell lines derived from stem cells." []	EFO:0005725	"BE(2)-C is a clone of the SK-N-BE(2) neuroblastoma cell line (ATCC CRL-2271) that was established in November of 1972 from a bone marrow biopsy taken from child with disseminated neuroblastoma after repeated courses of chemotherapy and radiotherapy. The cells grow as clusters of flattened neuroblastic cells with occasional fine cell processes (neurites). Unlike the parent line, they generally do not detach and float." []	208929	\N	\N	EFO	1	EFO	stem cell derived cell line	BE(2)-C
EFO:0002888	EFO:0005725	\N	"" []	EFO:0005725	"BE(2)-C is a clone of the SK-N-BE(2) neuroblastoma cell line (ATCC CRL-2271) that was established in November of 1972 from a bone marrow biopsy taken from child with disseminated neuroblastoma after repeated courses of chemotherapy and radiotherapy. The cells grow as clusters of flattened neuroblastic cells with occasional fine cell processes (neurites). Unlike the parent line, they generally do not detach and float." []	208930	\N	\N	EFO	1	EFO	Homo sapiens cell line	BE(2)-C
EFO:0005214	EFO:0005725	\N	"A cell line which is a model for neuroblastoma." []	EFO:0005725	"BE(2)-C is a clone of the SK-N-BE(2) neuroblastoma cell line (ATCC CRL-2271) that was established in November of 1972 from a bone marrow biopsy taken from child with disseminated neuroblastoma after repeated courses of chemotherapy and radiotherapy. The cells grow as clusters of flattened neuroblastic cells with occasional fine cell processes (neurites). Unlike the parent line, they generally do not detach and float." []	208931	\N	\N	EFO	1	EFO	neuroblastoma cell line	BE(2)-C
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005725	"BE(2)-C is a clone of the SK-N-BE(2) neuroblastoma cell line (ATCC CRL-2271) that was established in November of 1972 from a bone marrow biopsy taken from child with disseminated neuroblastoma after repeated courses of chemotherapy and radiotherapy. The cells grow as clusters of flattened neuroblastic cells with occasional fine cell processes (neurites). Unlike the parent line, they generally do not detach and float." []	562107	\N	\N	EFO	2	EFO	cell line	BE(2)-C
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005725	"BE(2)-C is a clone of the SK-N-BE(2) neuroblastoma cell line (ATCC CRL-2271) that was established in November of 1972 from a bone marrow biopsy taken from child with disseminated neuroblastoma after repeated courses of chemotherapy and radiotherapy. The cells grow as clusters of flattened neuroblastic cells with occasional fine cell processes (neurites). Unlike the parent line, they generally do not detach and float." []	562108	\N	\N	EFO	2	EFO	cell line	BE(2)-C
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005725	"BE(2)-C is a clone of the SK-N-BE(2) neuroblastoma cell line (ATCC CRL-2271) that was established in November of 1972 from a bone marrow biopsy taken from child with disseminated neuroblastoma after repeated courses of chemotherapy and radiotherapy. The cells grow as clusters of flattened neuroblastic cells with occasional fine cell processes (neurites). Unlike the parent line, they generally do not detach and float." []	562109	\N	\N	EFO	2	EFO	cell line	BE(2)-C
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005725	"BE(2)-C is a clone of the SK-N-BE(2) neuroblastoma cell line (ATCC CRL-2271) that was established in November of 1972 from a bone marrow biopsy taken from child with disseminated neuroblastoma after repeated courses of chemotherapy and radiotherapy. The cells grow as clusters of flattened neuroblastic cells with occasional fine cell processes (neurites). Unlike the parent line, they generally do not detach and float." []	1143715	\N	\N	EFO	3	EFO	material entity	BE(2)-C
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005725	"BE(2)-C is a clone of the SK-N-BE(2) neuroblastoma cell line (ATCC CRL-2271) that was established in November of 1972 from a bone marrow biopsy taken from child with disseminated neuroblastoma after repeated courses of chemotherapy and radiotherapy. The cells grow as clusters of flattened neuroblastic cells with occasional fine cell processes (neurites). Unlike the parent line, they generally do not detach and float." []	2026355	\N	\N	EFO	4	EFO	experimental factor	BE(2)-C
EFO:0005726	\N	\N	"LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." []	EFO:0005726	"LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." []	67403	\N	\N	EFO	0	EFO	LNCaP clone FGC	LNCaP clone FGC
EFO:0001639	EFO:0005726	\N	"" []	EFO:0005726	"LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." []	208932	\N	\N	EFO	1	EFO	cancer cell line	LNCaP clone FGC
EFO:0001641	EFO:0005726	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005726	"LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." []	208933	\N	\N	EFO	1	EFO	epithelial cell derived cell line	LNCaP clone FGC
EFO:0002888	EFO:0005726	\N	"" []	EFO:0005726	"LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." []	208934	\N	\N	EFO	1	EFO	Homo sapiens cell line	LNCaP clone FGC
EFO:0002891	EFO:0005726	\N	"Any cell line that is derived from the prostate." []	EFO:0005726	"LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." []	208935	\N	\N	EFO	1	EFO	prostate derived cell line	LNCaP clone FGC
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005726	"LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." []	562110	\N	\N	EFO	2	EFO	cell line	LNCaP clone FGC
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005726	"LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." []	562111	\N	\N	EFO	2	EFO	cell line	LNCaP clone FGC
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005726	"LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." []	562112	\N	\N	EFO	2	EFO	cell line	LNCaP clone FGC
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005726	"LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." []	562113	\N	\N	EFO	2	EFO	cell line	LNCaP clone FGC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005726	"LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." []	1143716	\N	\N	EFO	3	EFO	material entity	LNCaP clone FGC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005726	"LNCaP clone FGC was isolated in 1977 by J.S. Horoszewicz, et al., from a needle aspiration biopsy of the left supraclavicular lymph node of a 50-year-old Caucasian male (blood type B+) with confirmed diagnosis of metastatic prostate carcinoma. This is a hypotetraploid human cell line. The modal chromosome number was 84, occurring in 22% of cells. However, cells with chromosome counts of 86 (20%) and 87 (18%) also occurred at high frequencies. These cells are responsive to 5-alpha-dihydrotestosterone (growth modulation and acid phosphatase production)." []	2026356	\N	\N	EFO	4	EFO	experimental factor	LNCaP clone FGC
EFO:0005728	\N	\N	"A bronchial epithelial cell derived cell line is defined as something that derives from an airway epithelial cell" []	EFO:0005728	"A bronchial epithelial cell derived cell line is defined as something that derives from an airway epithelial cell" []	67404	\N	\N	EFO	0	EFO	bronchial epithelial cell derived cell line	bronchial epithelial cell derived cell line
EFO:0001641	EFO:0005728	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0005728	"A bronchial epithelial cell derived cell line is defined as something that derives from an airway epithelial cell" []	208936	\N	\N	EFO	1	EFO	epithelial cell derived cell line	bronchial epithelial cell derived cell line
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005728	"A bronchial epithelial cell derived cell line is defined as something that derives from an airway epithelial cell" []	562114	\N	\N	EFO	2	EFO	cell line	bronchial epithelial cell derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005728	"A bronchial epithelial cell derived cell line is defined as something that derives from an airway epithelial cell" []	1143717	\N	\N	EFO	3	EFO	material entity	bronchial epithelial cell derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005728	"A bronchial epithelial cell derived cell line is defined as something that derives from an airway epithelial cell" []	2026357	\N	\N	EFO	4	EFO	experimental factor	bronchial epithelial cell derived cell line
EFO:0005730	\N	\N	"An endothelial cell derived cell line is defined as a cell line that derives from an endothelial cell." []	EFO:0005730	"An endothelial cell derived cell line is defined as a cell line that derives from an endothelial cell." []	67405	\N	\N	EFO	0	EFO	endothelial cell derived cell line	endothelial cell derived cell line
EFO:0000322	EFO:0005730	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005730	"An endothelial cell derived cell line is defined as a cell line that derives from an endothelial cell." []	208937	\N	\N	EFO	1	EFO	cell line	endothelial cell derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005730	"An endothelial cell derived cell line is defined as a cell line that derives from an endothelial cell." []	562115	\N	\N	EFO	2	EFO	material entity	endothelial cell derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005730	"An endothelial cell derived cell line is defined as a cell line that derives from an endothelial cell." []	1143718	\N	\N	EFO	3	EFO	experimental factor	endothelial cell derived cell line
EFO:0005731	\N	\N	"A cardiac myocyte cell derived cell line is defined as a cell lineage that derives from cardiac myocyte cell" []	EFO:0005731	"A cardiac myocyte cell derived cell line is defined as a cell lineage that derives from cardiac myocyte cell" []	67406	\N	\N	EFO	0	EFO	cardiac myocyte cell derived cell line	cardiac myocyte cell derived cell line
EFO:0005734	EFO:0005731	\N	"" []	EFO:0005731	"A cardiac myocyte cell derived cell line is defined as a cell lineage that derives from cardiac myocyte cell" []	208938	\N	\N	EFO	1	EFO	muscle cell derived cell line	cardiac myocyte cell derived cell line
EFO:0000322	EFO:0005734	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005731	"A cardiac myocyte cell derived cell line is defined as a cell lineage that derives from cardiac myocyte cell" []	562116	\N	\N	EFO	2	EFO	cell line	cardiac myocyte cell derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005731	"A cardiac myocyte cell derived cell line is defined as a cell lineage that derives from cardiac myocyte cell" []	1143719	\N	\N	EFO	3	EFO	material entity	cardiac myocyte cell derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005731	"A cardiac myocyte cell derived cell line is defined as a cell lineage that derives from cardiac myocyte cell" []	2026358	\N	\N	EFO	4	EFO	experimental factor	cardiac myocyte cell derived cell line
EFO:0005734	\N	\N	"" []	EFO:0005734	"" []	67407	\N	\N	EFO	0	EFO	muscle cell derived cell line	muscle cell derived cell line
EFO:0000322	EFO:0005734	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005734	"" []	208939	\N	\N	EFO	1	EFO	cell line	muscle cell derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005734	"" []	562117	\N	\N	EFO	2	EFO	material entity	muscle cell derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005734	"" []	1143720	\N	\N	EFO	3	EFO	experimental factor	muscle cell derived cell line
EFO:0005735	\N	\N	"A cell line that derives from smooth muscle cell" []	EFO:0005735	"A cell line that derives from smooth muscle cell" []	67408	\N	\N	EFO	0	EFO	smooth muscle cell derived cell line	smooth muscle cell derived cell line
EFO:0005734	EFO:0005735	\N	"" []	EFO:0005735	"A cell line that derives from smooth muscle cell" []	208940	\N	\N	EFO	1	EFO	muscle cell derived cell line	smooth muscle cell derived cell line
EFO:0000322	EFO:0005734	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005735	"A cell line that derives from smooth muscle cell" []	562118	\N	\N	EFO	2	EFO	cell line	smooth muscle cell derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005735	"A cell line that derives from smooth muscle cell" []	1143721	\N	\N	EFO	3	EFO	material entity	smooth muscle cell derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005735	"A cell line that derives from smooth muscle cell" []	2026359	\N	\N	EFO	4	EFO	experimental factor	smooth muscle cell derived cell line
EFO:0005736	\N	\N	"A cell line that derives from bronchial smooth muscle cell" []	EFO:0005736	"A cell line that derives from bronchial smooth muscle cell" []	67409	\N	\N	EFO	0	EFO	bronchial smooth muscle cell derived cell line	bronchial smooth muscle cell derived cell line
EFO:0005735	EFO:0005736	\N	"A cell line that derives from smooth muscle cell" []	EFO:0005736	"A cell line that derives from bronchial smooth muscle cell" []	208941	\N	\N	EFO	1	EFO	smooth muscle cell derived cell line	bronchial smooth muscle cell derived cell line
EFO:0005734	EFO:0005735	\N	"" []	EFO:0005736	"A cell line that derives from bronchial smooth muscle cell" []	562119	\N	\N	EFO	2	EFO	muscle cell derived cell line	bronchial smooth muscle cell derived cell line
EFO:0000322	EFO:0005734	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005736	"A cell line that derives from bronchial smooth muscle cell" []	1143722	\N	\N	EFO	3	EFO	cell line	bronchial smooth muscle cell derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005736	"A cell line that derives from bronchial smooth muscle cell" []	2026360	\N	\N	EFO	4	EFO	material entity	bronchial smooth muscle cell derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005736	"A cell line that derives from bronchial smooth muscle cell" []	3178552	\N	\N	EFO	5	EFO	experimental factor	bronchial smooth muscle cell derived cell line
EFO:0005738	\N	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0005738	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	67410	\N	\N	EFO	0	EFO	ESC derived cell line	ESC derived cell line
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0005738	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	208942	\N	\N	EFO	1	EFO	stem cell derived cell line	ESC derived cell line
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005738	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	562120	\N	\N	EFO	2	EFO	cell line	ESC derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005738	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	1143723	\N	\N	EFO	3	EFO	material entity	ESC derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005738	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	2026361	\N	\N	EFO	4	EFO	experimental factor	ESC derived cell line
EFO:0005740	\N	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0005740	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	67411	\N	\N	EFO	0	EFO	iPSC derived cell line	iPSC derived cell line
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0005740	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	208943	\N	\N	EFO	1	EFO	stem cell derived cell line	iPSC derived cell line
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005740	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	562121	\N	\N	EFO	2	EFO	cell line	iPSC derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005740	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	1143724	\N	\N	EFO	3	EFO	material entity	iPSC derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005740	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	2026362	\N	\N	EFO	4	EFO	experimental factor	iPSC derived cell line
EFO:0005741	\N	\N	"A disease whose physical basis is an infectious agent" []	EFO:0005741	"A disease whose physical basis is an infectious agent" []	67412	\N	\N	EFO	0	EFO	infectious disease	infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005741	"A disease whose physical basis is an infectious agent" []	208944	\N	\N	EFO	1	EFO	disease	infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005741	"A disease whose physical basis is an infectious agent" []	562122	\N	\N	EFO	2	EFO	disposition	infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005741	"A disease whose physical basis is an infectious agent" []	1143725	\N	\N	EFO	3	EFO	material property	infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005741	"A disease whose physical basis is an infectious agent" []	2026363	\N	\N	EFO	4	EFO	experimental factor	infectious disease
EFO:0005742	\N	\N	"" []	EFO:0005742	"" []	67413	\N	\N	EFO	0	EFO	lung fibroblast derived cell line	lung fibroblast derived cell line
EFO:0002009	EFO:0005742	\N	"" []	EFO:0005742	"" []	208945	\N	\N	EFO	1	EFO	fibroblast derived cell line	lung fibroblast derived cell line
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005742	"" []	562123	\N	\N	EFO	2	EFO	cell line	lung fibroblast derived cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005742	"" []	1143726	\N	\N	EFO	3	EFO	material entity	lung fibroblast derived cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005742	"" []	2026364	\N	\N	EFO	4	EFO	experimental factor	lung fibroblast derived cell line
EFO:0005743	\N	\N	"This cell line was cloned from CME W1 in the Milner lab. The line was derived from L3 dorsal mesothoracic disc (Currie et al., 1988). Transcriptome analysis suggests similarity to cells along the A/P boundary of the wing blade primordium, possibly at the D/V boundary (Cherbas et al., 2011). The sex is male, based on roX expression - (L. Cherbas)." []	EFO:0005743	"This cell line was cloned from CME W1 in the Milner lab. The line was derived from L3 dorsal mesothoracic disc (Currie et al., 1988). Transcriptome analysis suggests similarity to cells along the A/P boundary of the wing blade primordium, possibly at the D/V boundary (Cherbas et al., 2011). The sex is male, based on roX expression - (L. Cherbas)." []	67414	\N	\N	EFO	0	EFO	CME-W1-Cl.8+	CME-W1-Cl.8+
EFO:0002926	EFO:0005743	\N	"" []	EFO:0005743	"This cell line was cloned from CME W1 in the Milner lab. The line was derived from L3 dorsal mesothoracic disc (Currie et al., 1988). Transcriptome analysis suggests similarity to cells along the A/P boundary of the wing blade primordium, possibly at the D/V boundary (Cherbas et al., 2011). The sex is male, based on roX expression - (L. Cherbas)." []	208946	\N	\N	EFO	1	EFO	ENCODE cell line	CME-W1-Cl.8+
EFO:0002935	EFO:0005743	\N	"" []	EFO:0005743	"This cell line was cloned from CME W1 in the Milner lab. The line was derived from L3 dorsal mesothoracic disc (Currie et al., 1988). Transcriptome analysis suggests similarity to cells along the A/P boundary of the wing blade primordium, possibly at the D/V boundary (Cherbas et al., 2011). The sex is male, based on roX expression - (L. Cherbas)." []	208947	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	CME-W1-Cl.8+
EFO:0003040	EFO:0005743	\N	"" []	EFO:0005743	"This cell line was cloned from CME W1 in the Milner lab. The line was derived from L3 dorsal mesothoracic disc (Currie et al., 1988). Transcriptome analysis suggests similarity to cells along the A/P boundary of the wing blade primordium, possibly at the D/V boundary (Cherbas et al., 2011). The sex is male, based on roX expression - (L. Cherbas)." []	208948	\N	\N	EFO	1	EFO	embryonic cell line	CME-W1-Cl.8+
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005743	"This cell line was cloned from CME W1 in the Milner lab. The line was derived from L3 dorsal mesothoracic disc (Currie et al., 1988). Transcriptome analysis suggests similarity to cells along the A/P boundary of the wing blade primordium, possibly at the D/V boundary (Cherbas et al., 2011). The sex is male, based on roX expression - (L. Cherbas)." []	562124	\N	\N	EFO	2	EFO	cell line	CME-W1-Cl.8+
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005743	"This cell line was cloned from CME W1 in the Milner lab. The line was derived from L3 dorsal mesothoracic disc (Currie et al., 1988). Transcriptome analysis suggests similarity to cells along the A/P boundary of the wing blade primordium, possibly at the D/V boundary (Cherbas et al., 2011). The sex is male, based on roX expression - (L. Cherbas)." []	562125	\N	\N	EFO	2	EFO	cell line	CME-W1-Cl.8+
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005743	"This cell line was cloned from CME W1 in the Milner lab. The line was derived from L3 dorsal mesothoracic disc (Currie et al., 1988). Transcriptome analysis suggests similarity to cells along the A/P boundary of the wing blade primordium, possibly at the D/V boundary (Cherbas et al., 2011). The sex is male, based on roX expression - (L. Cherbas)." []	562126	\N	\N	EFO	2	EFO	cell line	CME-W1-Cl.8+
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005743	"This cell line was cloned from CME W1 in the Milner lab. The line was derived from L3 dorsal mesothoracic disc (Currie et al., 1988). Transcriptome analysis suggests similarity to cells along the A/P boundary of the wing blade primordium, possibly at the D/V boundary (Cherbas et al., 2011). The sex is male, based on roX expression - (L. Cherbas)." []	1143727	\N	\N	EFO	3	EFO	material entity	CME-W1-Cl.8+
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005743	"This cell line was cloned from CME W1 in the Milner lab. The line was derived from L3 dorsal mesothoracic disc (Currie et al., 1988). Transcriptome analysis suggests similarity to cells along the A/P boundary of the wing blade primordium, possibly at the D/V boundary (Cherbas et al., 2011). The sex is male, based on roX expression - (L. Cherbas)." []	2026365	\N	\N	EFO	4	EFO	experimental factor	CME-W1-Cl.8+
EFO:0005744	\N	\N	"The line was made from L3 prothoracic leg discs in the Milner lab (Currie et al., 1988)." []	EFO:0005744	"The line was made from L3 prothoracic leg discs in the Milner lab (Currie et al., 1988)." []	67415	\N	\N	EFO	0	EFO	CME-W2	CME-W2
EFO:0002926	EFO:0005744	\N	"" []	EFO:0005744	"The line was made from L3 prothoracic leg discs in the Milner lab (Currie et al., 1988)." []	208949	\N	\N	EFO	1	EFO	ENCODE cell line	CME-W2
EFO:0002935	EFO:0005744	\N	"" []	EFO:0005744	"The line was made from L3 prothoracic leg discs in the Milner lab (Currie et al., 1988)." []	208950	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	CME-W2
EFO:0003040	EFO:0005744	\N	"" []	EFO:0005744	"The line was made from L3 prothoracic leg discs in the Milner lab (Currie et al., 1988)." []	208951	\N	\N	EFO	1	EFO	embryonic cell line	CME-W2
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005744	"The line was made from L3 prothoracic leg discs in the Milner lab (Currie et al., 1988)." []	562127	\N	\N	EFO	2	EFO	cell line	CME-W2
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005744	"The line was made from L3 prothoracic leg discs in the Milner lab (Currie et al., 1988)." []	562128	\N	\N	EFO	2	EFO	cell line	CME-W2
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005744	"The line was made from L3 prothoracic leg discs in the Milner lab (Currie et al., 1988)." []	562129	\N	\N	EFO	2	EFO	cell line	CME-W2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005744	"The line was made from L3 prothoracic leg discs in the Milner lab (Currie et al., 1988)." []	1143728	\N	\N	EFO	3	EFO	material entity	CME-W2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005744	"The line was made from L3 prothoracic leg discs in the Milner lab (Currie et al., 1988)." []	2026366	\N	\N	EFO	4	EFO	experimental factor	CME-W2
EFO:0005745	\N	\N	"This stable cell line is a mix of female germ-line stem cells/ovarian somatic sheet, which contains both germ-line and somatic cells." []	EFO:0005745	"This stable cell line is a mix of female germ-line stem cells/ovarian somatic sheet, which contains both germ-line and somatic cells." []	67416	\N	\N	EFO	0	EFO	fGS/OSS	fGS/OSS
EFO:0002926	EFO:0005745	\N	"" []	EFO:0005745	"This stable cell line is a mix of female germ-line stem cells/ovarian somatic sheet, which contains both germ-line and somatic cells." []	208952	\N	\N	EFO	1	EFO	ENCODE cell line	fGS/OSS
EFO:0002935	EFO:0005745	\N	"" []	EFO:0005745	"This stable cell line is a mix of female germ-line stem cells/ovarian somatic sheet, which contains both germ-line and somatic cells." []	208953	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	fGS/OSS
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005745	"This stable cell line is a mix of female germ-line stem cells/ovarian somatic sheet, which contains both germ-line and somatic cells." []	562130	\N	\N	EFO	2	EFO	cell line	fGS/OSS
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005745	"This stable cell line is a mix of female germ-line stem cells/ovarian somatic sheet, which contains both germ-line and somatic cells." []	562131	\N	\N	EFO	2	EFO	cell line	fGS/OSS
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005745	"This stable cell line is a mix of female germ-line stem cells/ovarian somatic sheet, which contains both germ-line and somatic cells." []	1143729	\N	\N	EFO	3	EFO	material entity	fGS/OSS
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005745	"This stable cell line is a mix of female germ-line stem cells/ovarian somatic sheet, which contains both germ-line and somatic cells." []	2026367	\N	\N	EFO	4	EFO	experimental factor	fGS/OSS
EFO:0005746	\N	\N	"Cells are made by W. Gehring from 6-10 hr embryos of cross y w f x In(3LR)C269, e mwh" []	EFO:0005746	"Cells are made by W. Gehring from 6-10 hr embryos of cross y w f x In(3LR)C269, e mwh" []	67417	\N	\N	EFO	0	EFO	G2	G2
EFO:0002926	EFO:0005746	\N	"" []	EFO:0005746	"Cells are made by W. Gehring from 6-10 hr embryos of cross y w f x In(3LR)C269, e mwh" []	208954	\N	\N	EFO	1	EFO	ENCODE cell line	G2
EFO:0002935	EFO:0005746	\N	"" []	EFO:0005746	"Cells are made by W. Gehring from 6-10 hr embryos of cross y w f x In(3LR)C269, e mwh" []	208955	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	G2
EFO:0003040	EFO:0005746	\N	"" []	EFO:0005746	"Cells are made by W. Gehring from 6-10 hr embryos of cross y w f x In(3LR)C269, e mwh" []	208956	\N	\N	EFO	1	EFO	embryonic cell line	G2
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005746	"Cells are made by W. Gehring from 6-10 hr embryos of cross y w f x In(3LR)C269, e mwh" []	562132	\N	\N	EFO	2	EFO	cell line	G2
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005746	"Cells are made by W. Gehring from 6-10 hr embryos of cross y w f x In(3LR)C269, e mwh" []	562133	\N	\N	EFO	2	EFO	cell line	G2
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005746	"Cells are made by W. Gehring from 6-10 hr embryos of cross y w f x In(3LR)C269, e mwh" []	562134	\N	\N	EFO	2	EFO	cell line	G2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005746	"Cells are made by W. Gehring from 6-10 hr embryos of cross y w f x In(3LR)C269, e mwh" []	1143730	\N	\N	EFO	3	EFO	material entity	G2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005746	"Cells are made by W. Gehring from 6-10 hr embryos of cross y w f x In(3LR)C269, e mwh" []	2026368	\N	\N	EFO	4	EFO	experimental factor	G2
EFO:0005747	\N	\N	"Cells are of embryonic line made by Mosna and Dolfini. GM2 line was characterized by XO cells showing two new telocentric chromosomes while an autosome of the II pair was missing (Mosna and Dolfini, 1972). XO Drosophila are sterile males (http://www.ncbi.nlm.nih.gov/books/NBK10025/)." []	EFO:0005747	"Cells are of embryonic line made by Mosna and Dolfini. GM2 line was characterized by XO cells showing two new telocentric chromosomes while an autosome of the II pair was missing (Mosna and Dolfini, 1972). XO Drosophila are sterile males (http://www.ncbi.nlm.nih.gov/books/NBK10025/)." []	67418	\N	\N	EFO	0	EFO	GM2	GM2
EFO:0002926	EFO:0005747	\N	"" []	EFO:0005747	"Cells are of embryonic line made by Mosna and Dolfini. GM2 line was characterized by XO cells showing two new telocentric chromosomes while an autosome of the II pair was missing (Mosna and Dolfini, 1972). XO Drosophila are sterile males (http://www.ncbi.nlm.nih.gov/books/NBK10025/)." []	208957	\N	\N	EFO	1	EFO	ENCODE cell line	GM2
EFO:0002935	EFO:0005747	\N	"" []	EFO:0005747	"Cells are of embryonic line made by Mosna and Dolfini. GM2 line was characterized by XO cells showing two new telocentric chromosomes while an autosome of the II pair was missing (Mosna and Dolfini, 1972). XO Drosophila are sterile males (http://www.ncbi.nlm.nih.gov/books/NBK10025/)." []	208958	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	GM2
EFO:0003040	EFO:0005747	\N	"" []	EFO:0005747	"Cells are of embryonic line made by Mosna and Dolfini. GM2 line was characterized by XO cells showing two new telocentric chromosomes while an autosome of the II pair was missing (Mosna and Dolfini, 1972). XO Drosophila are sterile males (http://www.ncbi.nlm.nih.gov/books/NBK10025/)." []	208959	\N	\N	EFO	1	EFO	embryonic cell line	GM2
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005747	"Cells are of embryonic line made by Mosna and Dolfini. GM2 line was characterized by XO cells showing two new telocentric chromosomes while an autosome of the II pair was missing (Mosna and Dolfini, 1972). XO Drosophila are sterile males (http://www.ncbi.nlm.nih.gov/books/NBK10025/)." []	562135	\N	\N	EFO	2	EFO	cell line	GM2
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005747	"Cells are of embryonic line made by Mosna and Dolfini. GM2 line was characterized by XO cells showing two new telocentric chromosomes while an autosome of the II pair was missing (Mosna and Dolfini, 1972). XO Drosophila are sterile males (http://www.ncbi.nlm.nih.gov/books/NBK10025/)." []	562136	\N	\N	EFO	2	EFO	cell line	GM2
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005747	"Cells are of embryonic line made by Mosna and Dolfini. GM2 line was characterized by XO cells showing two new telocentric chromosomes while an autosome of the II pair was missing (Mosna and Dolfini, 1972). XO Drosophila are sterile males (http://www.ncbi.nlm.nih.gov/books/NBK10025/)." []	562137	\N	\N	EFO	2	EFO	cell line	GM2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005747	"Cells are of embryonic line made by Mosna and Dolfini. GM2 line was characterized by XO cells showing two new telocentric chromosomes while an autosome of the II pair was missing (Mosna and Dolfini, 1972). XO Drosophila are sterile males (http://www.ncbi.nlm.nih.gov/books/NBK10025/)." []	1143731	\N	\N	EFO	3	EFO	material entity	GM2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005747	"Cells are of embryonic line made by Mosna and Dolfini. GM2 line was characterized by XO cells showing two new telocentric chromosomes while an autosome of the II pair was missing (Mosna and Dolfini, 1972). XO Drosophila are sterile males (http://www.ncbi.nlm.nih.gov/books/NBK10025/)." []	2026369	\N	\N	EFO	4	EFO	experimental factor	GM2
EFO:0005751	\N	\N	"" []	EFO:0005751	"" []	67419	\N	\N	EFO	0	EFO	eye allergy	eye allergy
EFO:0003785	EFO:0005751	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0005751	"" []	208960	\N	\N	EFO	1	EFO	allergy	eye allergy
EFO:0003966	EFO:0005751	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0005751	"" []	208961	\N	\N	EFO	1	EFO	eye disease	eye allergy
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005751	"" []	562138	\N	\N	EFO	2	EFO	immune system disease	eye allergy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005751	"" []	562139	\N	\N	EFO	2	EFO	disease	eye allergy
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005751	"" []	1143732	\N	\N	EFO	3	EFO	disease	eye allergy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005751	"" []	2026370	\N	\N	EFO	4	EFO	disposition	eye allergy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005751	"" []	2999665	\N	\N	EFO	5	EFO	material property	eye allergy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005751	"" []	4132689	\N	\N	EFO	6	EFO	experimental factor	eye allergy
EFO:0005752	\N	\N	"an inflammation in the eye(s)" []	EFO:0005752	"an inflammation in the eye(s)" []	67420	\N	\N	EFO	0	EFO	eye inflammation	eye inflammation
MP:0001845	EFO:0005752	\N	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	EFO:0005752	"an inflammation in the eye(s)" []	208962	\N	\N	EFO	1	EFO	inflammation	eye inflammation
EFO:0005753	\N	\N	"a disease that occurs in the vasculature of the eye" []	EFO:0005753	"a disease that occurs in the vasculature of the eye" []	67421	\N	\N	EFO	0	EFO	ocular vascular disease	ocular vascular disease
EFO:0000319	EFO:0005753	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005753	"a disease that occurs in the vasculature of the eye" []	208963	\N	\N	EFO	1	EFO	cardiovascular disease	ocular vascular disease
EFO:0003966	EFO:0005753	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0005753	"a disease that occurs in the vasculature of the eye" []	208964	\N	\N	EFO	1	EFO	eye disease	ocular vascular disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005753	"a disease that occurs in the vasculature of the eye" []	562140	\N	\N	EFO	2	EFO	disease	ocular vascular disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005753	"a disease that occurs in the vasculature of the eye" []	562141	\N	\N	EFO	2	EFO	disease	ocular vascular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005753	"a disease that occurs in the vasculature of the eye" []	1143734	\N	\N	EFO	3	EFO	disposition	ocular vascular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005753	"a disease that occurs in the vasculature of the eye" []	2026372	\N	\N	EFO	4	EFO	material property	ocular vascular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005753	"a disease that occurs in the vasculature of the eye" []	3178554	\N	\N	EFO	5	EFO	experimental factor	ocular vascular disease
EFO:0005754	\N	\N	"a disease that occurs in the parathyroid" []	EFO:0005754	"a disease that occurs in the parathyroid" []	67422	\N	\N	EFO	0	EFO	parathyroid disease	parathyroid disease
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	EFO:0005754	"a disease that occurs in the parathyroid" []	208965	\N	\N	EFO	1	EFO	calcium metabolic disease	parathyroid disease
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0005754	"a disease that occurs in the parathyroid" []	562142	\N	\N	EFO	2	EFO	metabolic disease	parathyroid disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005754	"a disease that occurs in the parathyroid" []	1143735	\N	\N	EFO	3	EFO	disease	parathyroid disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005754	"a disease that occurs in the parathyroid" []	2026373	\N	\N	EFO	4	EFO	disposition	parathyroid disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005754	"a disease that occurs in the parathyroid" []	3178555	\N	\N	EFO	5	EFO	material property	parathyroid disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005754	"a disease that occurs in the parathyroid" []	4388299	\N	\N	EFO	6	EFO	experimental factor	parathyroid disease
EFO:0005755	\N	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0005755	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	67423	\N	\N	EFO	0	EFO	rheumatic disease	rheumatic disease
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0005755	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	208966	\N	\N	EFO	1	EFO	skeletal system disease	rheumatic disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005755	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	562143	\N	\N	EFO	2	EFO	disease	rheumatic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005755	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	1143736	\N	\N	EFO	3	EFO	disposition	rheumatic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005755	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	2026374	\N	\N	EFO	4	EFO	material property	rheumatic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005755	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	3178556	\N	\N	EFO	5	EFO	experimental factor	rheumatic disease
EFO:0005756	\N	\N	"an injury to the skin caused by a cut, blow, or other impact." []	EFO:0005756	"an injury to the skin caused by a cut, blow, or other impact." []	67424	\N	\N	EFO	0	EFO	skin wound	skin wound
EFO:0003765	EFO:0005756	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0005756	"an injury to the skin caused by a cut, blow, or other impact." []	208967	\N	\N	EFO	1	EFO	sign or symptom	skin wound
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0005756	"an injury to the skin caused by a cut, blow, or other impact." []	562144	\N	\N	EFO	2	EFO	phenotype	skin wound
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0005756	"an injury to the skin caused by a cut, blow, or other impact." []	1143737	\N	\N	EFO	3	EFO	quality	skin wound
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005756	"an injury to the skin caused by a cut, blow, or other impact." []	2026375	\N	\N	EFO	4	EFO	material property	skin wound
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005756	"an injury to the skin caused by a cut, blow, or other impact." []	3178557	\N	\N	EFO	5	EFO	experimental factor	skin wound
EFO:0005757	\N	\N	"local accumulation of fluid, plasma proteins, and leukocytes in the vagina" []	EFO:0005757	"local accumulation of fluid, plasma proteins, and leukocytes in the vagina" []	67425	\N	\N	EFO	0	EFO	vaginal inflammation	vaginal inflammation
MP:0001845	EFO:0005757	\N	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	EFO:0005757	"local accumulation of fluid, plasma proteins, and leukocytes in the vagina" []	208968	\N	\N	EFO	1	EFO	inflammation	vaginal inflammation
EFO:0005758	\N	\N	"Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." []	EFO:0005758	"Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." []	67426	\N	\N	EFO	0	EFO	cycloplegia	cycloplegia
EFO:0003966	EFO:0005758	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0005758	"Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." []	208969	\N	\N	EFO	1	EFO	eye disease	cycloplegia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005758	"Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." []	562145	\N	\N	EFO	2	EFO	disease	cycloplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005758	"Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." []	1143738	\N	\N	EFO	3	EFO	disposition	cycloplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005758	"Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." []	2026376	\N	\N	EFO	4	EFO	material property	cycloplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005758	"Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." []	3178558	\N	\N	EFO	5	EFO	experimental factor	cycloplegia
EFO:0005760	\N	\N	"Quantification of carcinoembryonic antigen in serum. Carcinoembryonic antigen is a cancer-specific antigen associated with both tumors and the developing fetus. The main use of this antigen is as a tumor marker, especially with respect to intestinal cancers. Production of the antigen ceases shortly before birth, but may reappear in people who develop certain types of cancer." []	EFO:0005760	"Quantification of carcinoembryonic antigen in serum. Carcinoembryonic antigen is a cancer-specific antigen associated with both tumors and the developing fetus. The main use of this antigen is as a tumor marker, especially with respect to intestinal cancers. Production of the antigen ceases shortly before birth, but may reappear in people who develop certain types of cancer." []	67427	\N	\N	EFO	0	EFO	serum carcinoembryonic antigen measurement	serum carcinoembryonic antigen measurement
EFO:0001444	EFO:0005760	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005760	"Quantification of carcinoembryonic antigen in serum. Carcinoembryonic antigen is a cancer-specific antigen associated with both tumors and the developing fetus. The main use of this antigen is as a tumor marker, especially with respect to intestinal cancers. Production of the antigen ceases shortly before birth, but may reappear in people who develop certain types of cancer." []	208970	\N	\N	EFO	1	EFO	measurement	serum carcinoembryonic antigen measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005760	"Quantification of carcinoembryonic antigen in serum. Carcinoembryonic antigen is a cancer-specific antigen associated with both tumors and the developing fetus. The main use of this antigen is as a tumor marker, especially with respect to intestinal cancers. Production of the antigen ceases shortly before birth, but may reappear in people who develop certain types of cancer." []	562146	\N	\N	EFO	2	EFO	information entity	serum carcinoembryonic antigen measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005760	"Quantification of carcinoembryonic antigen in serum. Carcinoembryonic antigen is a cancer-specific antigen associated with both tumors and the developing fetus. The main use of this antigen is as a tumor marker, especially with respect to intestinal cancers. Production of the antigen ceases shortly before birth, but may reappear in people who develop certain types of cancer." []	1143739	\N	\N	EFO	3	EFO	experimental factor	serum carcinoembryonic antigen measurement
EFO:0005761	\N	\N	"Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982)." []	EFO:0005761	"Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982)." []	67428	\N	\N	EFO	0	EFO	lupus nephritis	lupus nephritis
EFO:0003086	EFO:0005761	\N	"A disease affecting the kidneys" []	EFO:0005761	"Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982)." []	208971	\N	\N	EFO	1	EFO	kidney disease	lupus nephritis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005761	"Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982)." []	562147	\N	\N	EFO	2	EFO	disease	lupus nephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005761	"Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982)." []	1143740	\N	\N	EFO	3	EFO	disposition	lupus nephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005761	"Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982)." []	2026377	\N	\N	EFO	4	EFO	material property	lupus nephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005761	"Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982)." []	3178559	\N	\N	EFO	5	EFO	experimental factor	lupus nephritis
EFO:0005762	\N	\N	"Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury." []	EFO:0005762	"Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury." []	67429	\N	\N	EFO	0	EFO	neuropathic pain	neuropathic pain
EFO:0003843	EFO:0005762	\N	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	EFO:0005762	"Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury." []	208972	\N	\N	EFO	1	EFO	pain	neuropathic pain
EFO:0003765	EFO:0003843	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0005762	"Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury." []	562148	\N	\N	EFO	2	EFO	sign or symptom	neuropathic pain
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0005762	"Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury." []	1143741	\N	\N	EFO	3	EFO	phenotype	neuropathic pain
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0005762	"Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury." []	2026378	\N	\N	EFO	4	EFO	quality	neuropathic pain
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005762	"Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury." []	3178560	\N	\N	EFO	5	EFO	material property	neuropathic pain
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005762	"Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury." []	4388300	\N	\N	EFO	6	EFO	experimental factor	neuropathic pain
EFO:0005763	\N	\N	"quantification of the difference between systolic blood pressure and diastolic blood pressure. Higher PP is associated with left ventricle hypertrophy and the increased intimal thickness of the carotid artery, which represent early target organ damage in cardiovascular diseases" []	EFO:0005763	"quantification of the difference between systolic blood pressure and diastolic blood pressure. Higher PP is associated with left ventricle hypertrophy and the increased intimal thickness of the carotid artery, which represent early target organ damage in cardiovascular diseases" []	67430	\N	\N	EFO	0	EFO	pulse pressure measurement	pulse pressure measurement
EFO:0005278	EFO:0005763	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005763	"quantification of the difference between systolic blood pressure and diastolic blood pressure. Higher PP is associated with left ventricle hypertrophy and the increased intimal thickness of the carotid artery, which represent early target organ damage in cardiovascular diseases" []	208973	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	pulse pressure measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005763	"quantification of the difference between systolic blood pressure and diastolic blood pressure. Higher PP is associated with left ventricle hypertrophy and the increased intimal thickness of the carotid artery, which represent early target organ damage in cardiovascular diseases" []	562149	\N	\N	EFO	2	EFO	cardiovascular measurement	pulse pressure measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005763	"quantification of the difference between systolic blood pressure and diastolic blood pressure. Higher PP is associated with left ventricle hypertrophy and the increased intimal thickness of the carotid artery, which represent early target organ damage in cardiovascular diseases" []	1143742	\N	\N	EFO	3	EFO	measurement	pulse pressure measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005763	"quantification of the difference between systolic blood pressure and diastolic blood pressure. Higher PP is associated with left ventricle hypertrophy and the increased intimal thickness of the carotid artery, which represent early target organ damage in cardiovascular diseases" []	2026379	\N	\N	EFO	4	EFO	information entity	pulse pressure measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005763	"quantification of the difference between systolic blood pressure and diastolic blood pressure. Higher PP is associated with left ventricle hypertrophy and the increased intimal thickness of the carotid artery, which represent early target organ damage in cardiovascular diseases" []	3178561	\N	\N	EFO	5	EFO	experimental factor	pulse pressure measurement
EFO:0005766	\N	\N	"quantification of the level of fluorescence of the skin, measured by spectromemeter and used as a non-invasive marker of advanced glycation end product (AGE) accumulation. Skin fluorescence (SF) is a non-invasive marker of AGEs and is associated with the long-term complications of diabetes. SF increases with age and is also greater among individuals with diabetes" []	EFO:0005766	"quantification of the level of fluorescence of the skin, measured by spectromemeter and used as a non-invasive marker of advanced glycation end product (AGE) accumulation. Skin fluorescence (SF) is a non-invasive marker of AGEs and is associated with the long-term complications of diabetes. SF increases with age and is also greater among individuals with diabetes" []	67431	\N	\N	EFO	0	EFO	skin fluorescence measurement	skin fluorescence measurement
EFO:0006842	EFO:0005766	\N	"" []	EFO:0005766	"quantification of the level of fluorescence of the skin, measured by spectromemeter and used as a non-invasive marker of advanced glycation end product (AGE) accumulation. Skin fluorescence (SF) is a non-invasive marker of AGEs and is associated with the long-term complications of diabetes. SF increases with age and is also greater among individuals with diabetes" []	208974	\N	\N	EFO	1	EFO	diabetes mellitus biomarker	skin fluorescence measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005766	"quantification of the level of fluorescence of the skin, measured by spectromemeter and used as a non-invasive marker of advanced glycation end product (AGE) accumulation. Skin fluorescence (SF) is a non-invasive marker of AGEs and is associated with the long-term complications of diabetes. SF increases with age and is also greater among individuals with diabetes" []	562150	\N	\N	EFO	2	EFO	measurement	skin fluorescence measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005766	"quantification of the level of fluorescence of the skin, measured by spectromemeter and used as a non-invasive marker of advanced glycation end product (AGE) accumulation. Skin fluorescence (SF) is a non-invasive marker of AGEs and is associated with the long-term complications of diabetes. SF increases with age and is also greater among individuals with diabetes" []	1143743	\N	\N	EFO	3	EFO	information entity	skin fluorescence measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005766	"quantification of the level of fluorescence of the skin, measured by spectromemeter and used as a non-invasive marker of advanced glycation end product (AGE) accumulation. Skin fluorescence (SF) is a non-invasive marker of AGEs and is associated with the long-term complications of diabetes. SF increases with age and is also greater among individuals with diabetes" []	2026380	\N	\N	EFO	4	EFO	experimental factor	skin fluorescence measurement
EFO:0005767	\N	\N	"quantification of rheumatoid factors, antibodies in the serum of individuals with rheumatoid arthritis that react with antigenic determinants or immunoglobulins that enhance agglutination of suspended particles coated with pooled human gamma -globulin. Rheumatoid factors also occur in other autoimmune and certain infectious diseases." []	EFO:0005767	"quantification of rheumatoid factors, antibodies in the serum of individuals with rheumatoid arthritis that react with antigenic determinants or immunoglobulins that enhance agglutination of suspended particles coated with pooled human gamma -globulin. Rheumatoid factors also occur in other autoimmune and certain infectious diseases." []	67432	\N	\N	EFO	0	EFO	rheumatoid factor measurement	rheumatoid factor measurement
EFO:0004556	EFO:0005767	\N	"Is the quantification of some antibody" []	EFO:0005767	"quantification of rheumatoid factors, antibodies in the serum of individuals with rheumatoid arthritis that react with antigenic determinants or immunoglobulins that enhance agglutination of suspended particles coated with pooled human gamma -globulin. Rheumatoid factors also occur in other autoimmune and certain infectious diseases." []	208975	\N	\N	EFO	1	EFO	antibody measurement	rheumatoid factor measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005767	"quantification of rheumatoid factors, antibodies in the serum of individuals with rheumatoid arthritis that react with antigenic determinants or immunoglobulins that enhance agglutination of suspended particles coated with pooled human gamma -globulin. Rheumatoid factors also occur in other autoimmune and certain infectious diseases." []	562151	\N	\N	EFO	2	EFO	measurement	rheumatoid factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005767	"quantification of rheumatoid factors, antibodies in the serum of individuals with rheumatoid arthritis that react with antigenic determinants or immunoglobulins that enhance agglutination of suspended particles coated with pooled human gamma -globulin. Rheumatoid factors also occur in other autoimmune and certain infectious diseases." []	1143744	\N	\N	EFO	3	EFO	information entity	rheumatoid factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005767	"quantification of rheumatoid factors, antibodies in the serum of individuals with rheumatoid arthritis that react with antigenic determinants or immunoglobulins that enhance agglutination of suspended particles coated with pooled human gamma -globulin. Rheumatoid factors also occur in other autoimmune and certain infectious diseases." []	2026381	\N	\N	EFO	4	EFO	experimental factor	rheumatoid factor measurement
EFO:0005768	\N	\N	"physiological response to treatment with rate control medication such as B blockers, calcium channel antagonists or digitalis" []	EFO:0005768	"physiological response to treatment with rate control medication such as B blockers, calcium channel antagonists or digitalis" []	67433	\N	\N	EFO	0	EFO	response to rate control therapy	response to rate control therapy
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0005768	"physiological response to treatment with rate control medication such as B blockers, calcium channel antagonists or digitalis" []	194753	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to rate control therapy
EFO:0005769	\N	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	EFO:0005769	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	67434	\N	\N	EFO	0	EFO	calcium metabolic disease	calcium metabolic disease
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0005769	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	208976	\N	\N	EFO	1	EFO	metabolic disease	calcium metabolic disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005769	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	562152	\N	\N	EFO	2	EFO	disease	calcium metabolic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005769	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	1143745	\N	\N	EFO	3	EFO	disposition	calcium metabolic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005769	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	2026382	\N	\N	EFO	4	EFO	material property	calcium metabolic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005769	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	3178562	\N	\N	EFO	5	EFO	experimental factor	calcium metabolic disease
EFO:0005771	\N	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0005771	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	67435	\N	\N	EFO	0	EFO	ovarian disease	ovarian disease
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0005771	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	208977	\N	\N	EFO	1	EFO	reproductive system disease	ovarian disease
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005771	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	562153	\N	\N	EFO	2	EFO	disease	ovarian disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005771	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	1143746	\N	\N	EFO	3	EFO	disposition	ovarian disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005771	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	2026383	\N	\N	EFO	4	EFO	material property	ovarian disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005771	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	3178563	\N	\N	EFO	5	EFO	experimental factor	ovarian disease
EFO:0005772	\N	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:0005772	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	67436	\N	\N	EFO	0	EFO	neurodegenerative disease	neurodegenerative disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005772	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	208978	\N	\N	EFO	1	EFO	nervous system disease	neurodegenerative disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005772	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	562154	\N	\N	EFO	2	EFO	disease	neurodegenerative disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005772	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	1143747	\N	\N	EFO	3	EFO	disposition	neurodegenerative disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005772	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	2026384	\N	\N	EFO	4	EFO	material property	neurodegenerative disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005772	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	3178564	\N	\N	EFO	5	EFO	experimental factor	neurodegenerative disease
EFO:0005773	\N	\N	"Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." []	EFO:0005773	"Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." []	67437	\N	\N	EFO	0	EFO	retinal detachment	retinal detachment
EFO:0003839	EFO:0005773	\N	"Any disease or disorder of the retina." []	EFO:0005773	"Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." []	208979	\N	\N	EFO	1	EFO	retinopathy	retinal detachment
EFO:0000524	EFO:0003839	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0005773	"Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." []	562155	\N	\N	EFO	2	EFO	head disease	retinal detachment
EFO:0003966	EFO:0003839	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0005773	"Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." []	562156	\N	\N	EFO	2	EFO	eye disease	retinal detachment
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005773	"Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." []	1143748	\N	\N	EFO	3	EFO	disease	retinal detachment
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005773	"Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." []	1143749	\N	\N	EFO	3	EFO	disease	retinal detachment
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005773	"Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." []	2026385	\N	\N	EFO	4	EFO	disposition	retinal detachment
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005773	"Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." []	3178565	\N	\N	EFO	5	EFO	material property	retinal detachment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005773	"Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness." []	4388301	\N	\N	EFO	6	EFO	experimental factor	retinal detachment
EFO:0005774	\N	\N	"A disease affecting the brain or part of the brain." []	EFO:0005774	"A disease affecting the brain or part of the brain." []	67438	\N	\N	EFO	0	EFO	brain disease	brain disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005774	"A disease affecting the brain or part of the brain." []	208980	\N	\N	EFO	1	EFO	nervous system disease	brain disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005774	"A disease affecting the brain or part of the brain." []	562157	\N	\N	EFO	2	EFO	disease	brain disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005774	"A disease affecting the brain or part of the brain." []	1143750	\N	\N	EFO	3	EFO	disposition	brain disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005774	"A disease affecting the brain or part of the brain." []	2026386	\N	\N	EFO	4	EFO	material property	brain disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005774	"A disease affecting the brain or part of the brain." []	3178566	\N	\N	EFO	5	EFO	experimental factor	brain disease
EFO:0005775	\N	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:0005775	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	67439	\N	\N	EFO	0	EFO	aortic disease	aortic disease
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0005775	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	208981	\N	\N	EFO	1	EFO	vascular disease	aortic disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005775	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	562158	\N	\N	EFO	2	EFO	cardiovascular disease	aortic disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005775	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	1143751	\N	\N	EFO	3	EFO	disease	aortic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005775	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	2026387	\N	\N	EFO	4	EFO	disposition	aortic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005775	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	3178567	\N	\N	EFO	5	EFO	material property	aortic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005775	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	4388302	\N	\N	EFO	6	EFO	experimental factor	aortic disease
EFO:0005782	\N	\N	"Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." []	EFO:0005782	"Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." []	67440	\N	\N	EFO	0	EFO	age-related hearing impairment	age-related hearing impairment
EFO:0004238	EFO:0005782	\N	"A general term for the complete or partial loss of the ability to hear from one or both ears." []	EFO:0005782	"Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." []	208982	\N	\N	EFO	1	EFO	hearing loss	age-related hearing impairment
EFO:1001455	EFO:0004238	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:0005782	"Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." []	562159	\N	\N	EFO	2	EFO	auditory system disease	age-related hearing impairment
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0005782	"Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." []	1143752	\N	\N	EFO	3	EFO	sensory system disease	age-related hearing impairment
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005782	"Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." []	2026388	\N	\N	EFO	4	EFO	nervous system disease	age-related hearing impairment
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005782	"Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." []	3178568	\N	\N	EFO	5	EFO	disease	age-related hearing impairment
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005782	"Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." []	4388303	\N	\N	EFO	6	EFO	disposition	age-related hearing impairment
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005782	"Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." []	5408846	\N	\N	EFO	7	EFO	material property	age-related hearing impairment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005782	"Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." []	6147510	\N	\N	EFO	8	EFO	experimental factor	age-related hearing impairment
EFO:0005783	\N	\N	"NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called NUT-variant." []	EFO:0005783	"NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called NUT-variant." []	67441	\N	\N	EFO	0	EFO	NUT midline carcinoma	NUT midline carcinoma
EFO:0000313	EFO:0005783	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005783	"NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called NUT-variant." []	208983	\N	\N	EFO	1	EFO	carcinoma	NUT midline carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005783	"NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called NUT-variant." []	562160	\N	\N	EFO	2	EFO	cancer	NUT midline carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005783	"NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called NUT-variant." []	562161	\N	\N	EFO	2	EFO	epithelial neoplasm	NUT midline carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005783	"NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called NUT-variant." []	1143753	\N	\N	EFO	3	EFO	neoplasm	NUT midline carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005783	"NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called NUT-variant." []	1143754	\N	\N	EFO	3	EFO	neoplasm	NUT midline carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005783	"NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called NUT-variant." []	2026389	\N	\N	EFO	4	EFO	disease	NUT midline carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005783	"NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called NUT-variant." []	3178569	\N	\N	EFO	5	EFO	disposition	NUT midline carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005783	"NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called NUT-variant." []	4388304	\N	\N	EFO	6	EFO	material property	NUT midline carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005783	"NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called NUT-variant." []	5408847	\N	\N	EFO	7	EFO	experimental factor	NUT midline carcinoma
EFO:0005784	\N	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:0005784	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	67442	\N	\N	EFO	0	EFO	embryonal neoplasm	embryonal neoplasm
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005784	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	208984	\N	\N	EFO	1	EFO	neoplasm	embryonal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005784	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	562162	\N	\N	EFO	2	EFO	disease	embryonal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005784	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	1143755	\N	\N	EFO	3	EFO	disposition	embryonal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005784	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	2026390	\N	\N	EFO	4	EFO	material property	embryonal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005784	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	3178570	\N	\N	EFO	5	EFO	experimental factor	embryonal neoplasm
EFO:0005785	\N	\N	"A malignant neoplasm composed of undifferentiated cells." []	EFO:0005785	"A malignant neoplasm composed of undifferentiated cells." []	67443	\N	\N	EFO	0	EFO	blastoma	blastoma
EFO:0005784	EFO:0005785	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:0005785	"A malignant neoplasm composed of undifferentiated cells." []	208985	\N	\N	EFO	1	EFO	embryonal neoplasm	blastoma
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005785	"A malignant neoplasm composed of undifferentiated cells." []	562163	\N	\N	EFO	2	EFO	neoplasm	blastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005785	"A malignant neoplasm composed of undifferentiated cells." []	1143756	\N	\N	EFO	3	EFO	disease	blastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005785	"A malignant neoplasm composed of undifferentiated cells." []	2026391	\N	\N	EFO	4	EFO	disposition	blastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005785	"A malignant neoplasm composed of undifferentiated cells." []	3178571	\N	\N	EFO	5	EFO	material property	blastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005785	"A malignant neoplasm composed of undifferentiated cells." []	4388305	\N	\N	EFO	6	EFO	experimental factor	blastoma
EFO:0005793	\N	\N	"30% of flowers to be produced have opened" []	EFO:0005793	"30% of flowers to be produced have opened" []	67444	\N	\N	EFO	0	EFO	FL.01 1/4 of flowers open stage	FL.01 1/4 of flowers open stage
PO:0007016	EFO:0005793	\N	"The stage at which any flower(s) on the plant are open." []	EFO:0005793	"30% of flowers to be produced have opened" []	208986	\N	\N	EFO	1	EFO	whole plant flowering stage	FL.01 1/4 of flowers open stage
PO:0028002	PO:0007016	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	EFO:0005793	"30% of flowers to be produced have opened" []	562164	\N	\N	EFO	2	EFO	sporophyte development stage	FL.01 1/4 of flowers open stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	EFO:0005793	"30% of flowers to be produced have opened" []	1143757	\N	\N	EFO	3	EFO	plant structure development stage	FL.01 1/4 of flowers open stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005793	"30% of flowers to be produced have opened" []	2026392	\N	\N	EFO	4	EFO	developmental stage	FL.01 1/4 of flowers open stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005793	"30% of flowers to be produced have opened" []	3178572	\N	\N	EFO	5	EFO	process	FL.01 1/4 of flowers open stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005793	"30% of flowers to be produced have opened" []	4388306	\N	\N	EFO	6	EFO	experimental factor	FL.01 1/4 of flowers open stage
EFO:0005799	\N	\N	"A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." []	EFO:0005799	"A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." []	67445	\N	\N	EFO	0	EFO	neonatal abstinence syndrome	neonatal abstinence syndrome
EFO:0005800	EFO:0005799	\N	"A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." []	EFO:0005799	"A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." []	208987	\N	\N	EFO	1	EFO	substance withdrawal syndrome	neonatal abstinence syndrome
EFO:0000677	EFO:0005800	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005799	"A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." []	562165	\N	\N	EFO	2	EFO	mental or behavioural disorder	neonatal abstinence syndrome
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005799	"A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." []	1143758	\N	\N	EFO	3	EFO	brain disease	neonatal abstinence syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005799	"A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." []	2026393	\N	\N	EFO	4	EFO	nervous system disease	neonatal abstinence syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005799	"A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." []	3178573	\N	\N	EFO	5	EFO	disease	neonatal abstinence syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005799	"A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." []	4388307	\N	\N	EFO	6	EFO	disposition	neonatal abstinence syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005799	"A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." []	5408848	\N	\N	EFO	7	EFO	material property	neonatal abstinence syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005799	"A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." []	6147511	\N	\N	EFO	8	EFO	experimental factor	neonatal abstinence syndrome
EFO:0005800	\N	\N	"A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." []	EFO:0005800	"A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." []	67446	\N	\N	EFO	0	EFO	substance withdrawal syndrome	substance withdrawal syndrome
EFO:0000677	EFO:0005800	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005800	"A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." []	208988	\N	\N	EFO	1	EFO	mental or behavioural disorder	substance withdrawal syndrome
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005800	"A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." []	562166	\N	\N	EFO	2	EFO	brain disease	substance withdrawal syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005800	"A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." []	1143759	\N	\N	EFO	3	EFO	nervous system disease	substance withdrawal syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005800	"A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." []	2026394	\N	\N	EFO	4	EFO	disease	substance withdrawal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005800	"A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." []	3178574	\N	\N	EFO	5	EFO	disposition	substance withdrawal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005800	"A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." []	4388308	\N	\N	EFO	6	EFO	material property	substance withdrawal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005800	"A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." []	5408849	\N	\N	EFO	7	EFO	experimental factor	substance withdrawal syndrome
EFO:0005801	\N	\N	"A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream." []	EFO:0005801	"A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream." []	67447	\N	\N	EFO	0	EFO	cholesterol embolism	cholesterol embolism
EFO:0004264	EFO:0005801	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0005801	"A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream." []	208989	\N	\N	EFO	1	EFO	vascular disease	cholesterol embolism
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005801	"A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream." []	562167	\N	\N	EFO	2	EFO	cardiovascular disease	cholesterol embolism
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005801	"A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream." []	1143760	\N	\N	EFO	3	EFO	disease	cholesterol embolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005801	"A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream." []	2026395	\N	\N	EFO	4	EFO	disposition	cholesterol embolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005801	"A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream." []	3178575	\N	\N	EFO	5	EFO	material property	cholesterol embolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005801	"A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream." []	4388309	\N	\N	EFO	6	EFO	experimental factor	cholesterol embolism
EFO:0005802	\N	\N	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	EFO:0005802	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	67448	\N	\N	EFO	0	EFO	cartilage disease	cartilage disease
EFO:0002461	EFO:0005802	\N	"Any disease which affects part of the skeletal system." []	EFO:0005802	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	208990	\N	\N	EFO	1	EFO	skeletal system disease	cartilage disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005802	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	562168	\N	\N	EFO	2	EFO	disease	cartilage disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005802	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	1143761	\N	\N	EFO	3	EFO	disposition	cartilage disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005802	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	2026396	\N	\N	EFO	4	EFO	material property	cartilage disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005802	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	3178576	\N	\N	EFO	5	EFO	experimental factor	cartilage disease
EFO:0005803	\N	\N	"Disorders of the blood and blood forming tissues." []	EFO:0005803	"Disorders of the blood and blood forming tissues." []	67449	\N	\N	EFO	0	EFO	hematological system disease	hematological system disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005803	"Disorders of the blood and blood forming tissues." []	208991	\N	\N	EFO	1	EFO	disease	hematological system disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005803	"Disorders of the blood and blood forming tissues." []	562169	\N	\N	EFO	2	EFO	disposition	hematological system disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005803	"Disorders of the blood and blood forming tissues." []	1143762	\N	\N	EFO	3	EFO	material property	hematological system disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005803	"Disorders of the blood and blood forming tissues." []	2026397	\N	\N	EFO	4	EFO	experimental factor	hematological system disease
EFO:0005804	\N	\N	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	EFO:0005804	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	67450	\N	\N	EFO	0	EFO	polycythemia	polycythemia
EFO:0005803	EFO:0005804	\N	"Disorders of the blood and blood forming tissues." []	EFO:0005804	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	208992	\N	\N	EFO	1	EFO	hematological system disease	polycythemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005804	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	562170	\N	\N	EFO	2	EFO	disease	polycythemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005804	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	1143763	\N	\N	EFO	3	EFO	disposition	polycythemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005804	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	2026398	\N	\N	EFO	4	EFO	material property	polycythemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005804	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	3178577	\N	\N	EFO	5	EFO	experimental factor	polycythemia
EFO:0005805	\N	\N	"polycythemia due to hypoxia istypically caused by is usually due to increased erythropoietin due to low blood oxygen level, for example in cases of COPD, chronic heart disease or pulmonary hypertension" []	EFO:0005805	"polycythemia due to hypoxia istypically caused by is usually due to increased erythropoietin due to low blood oxygen level, for example in cases of COPD, chronic heart disease or pulmonary hypertension" []	67451	\N	\N	EFO	0	EFO	polycythemia due to hypoxia	polycythemia due to hypoxia
EFO:0005804	EFO:0005805	\N	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	EFO:0005805	"polycythemia due to hypoxia istypically caused by is usually due to increased erythropoietin due to low blood oxygen level, for example in cases of COPD, chronic heart disease or pulmonary hypertension" []	208993	\N	\N	EFO	1	EFO	polycythemia	polycythemia due to hypoxia
EFO:0005803	EFO:0005804	\N	"Disorders of the blood and blood forming tissues." []	EFO:0005805	"polycythemia due to hypoxia istypically caused by is usually due to increased erythropoietin due to low blood oxygen level, for example in cases of COPD, chronic heart disease or pulmonary hypertension" []	562171	\N	\N	EFO	2	EFO	hematological system disease	polycythemia due to hypoxia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005805	"polycythemia due to hypoxia istypically caused by is usually due to increased erythropoietin due to low blood oxygen level, for example in cases of COPD, chronic heart disease or pulmonary hypertension" []	1143764	\N	\N	EFO	3	EFO	disease	polycythemia due to hypoxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005805	"polycythemia due to hypoxia istypically caused by is usually due to increased erythropoietin due to low blood oxygen level, for example in cases of COPD, chronic heart disease or pulmonary hypertension" []	2026399	\N	\N	EFO	4	EFO	disposition	polycythemia due to hypoxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005805	"polycythemia due to hypoxia istypically caused by is usually due to increased erythropoietin due to low blood oxygen level, for example in cases of COPD, chronic heart disease or pulmonary hypertension" []	3178578	\N	\N	EFO	5	EFO	material property	polycythemia due to hypoxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005805	"polycythemia due to hypoxia istypically caused by is usually due to increased erythropoietin due to low blood oxygen level, for example in cases of COPD, chronic heart disease or pulmonary hypertension" []	4388310	\N	\N	EFO	6	EFO	experimental factor	polycythemia due to hypoxia
EFO:0005809	\N	\N	"Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." []	EFO:0005809	"Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." []	67452	\N	\N	EFO	0	EFO	type II hypersensitivity reaction disease	type II hypersensitivity reaction disease
EFO:1002003	EFO:0005809	\N	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	EFO:0005809	"Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." []	208994	\N	\N	EFO	1	EFO	hypersensitivity reaction disease	type II hypersensitivity reaction disease
EFO:0000540	EFO:1002003	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005809	"Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." []	562172	\N	\N	EFO	2	EFO	immune system disease	type II hypersensitivity reaction disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005809	"Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." []	1143765	\N	\N	EFO	3	EFO	disease	type II hypersensitivity reaction disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005809	"Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." []	2026400	\N	\N	EFO	4	EFO	disposition	type II hypersensitivity reaction disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005809	"Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." []	3178579	\N	\N	EFO	5	EFO	material property	type II hypersensitivity reaction disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005809	"Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." []	4388311	\N	\N	EFO	6	EFO	experimental factor	type II hypersensitivity reaction disease
EFO:0005815	\N	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	EFO:0005815	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	67453	\N	\N	EFO	0	EFO	tauopathy	tauopathy
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:0005815	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	208995	\N	\N	EFO	1	EFO	neurodegenerative disease	tauopathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005815	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	562173	\N	\N	EFO	2	EFO	nervous system disease	tauopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005815	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	1143766	\N	\N	EFO	3	EFO	disease	tauopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005815	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	2026401	\N	\N	EFO	4	EFO	disposition	tauopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005815	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	3178580	\N	\N	EFO	5	EFO	material property	tauopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005815	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	4388312	\N	\N	EFO	6	EFO	experimental factor	tauopathy
EFO:0005816	\N	\N	"" []	EFO:0005816	"" []	67454	\N	\N	EFO	0	EFO	microtubule-associated protein tau	microtubule-associated protein tau
CHEBI:36080	EFO:0005816	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	EFO:0005816	"" []	208996	\N	\N	EFO	1	EFO	protein	microtubule-associated protein tau
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0005816	"" []	562174	\N	\N	EFO	2	EFO	chemical compound	microtubule-associated protein tau
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0005816	"" []	1143767	\N	\N	EFO	3	EFO	chemical entity	microtubule-associated protein tau
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005816	"" []	2026402	\N	\N	EFO	4	EFO	material entity	microtubule-associated protein tau
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005816	"" []	3178581	\N	\N	EFO	5	EFO	experimental factor	microtubule-associated protein tau
EFO:0005819	\N	\N	"Kc line established from 6-12 hr embryos of cross se x e. Clone 167 isolated in Goldschmitt-Clermont laboratory. Selected for growth in high-pH medium by Bourouis and Jarry. Restored to normal medium in Cherbas laboratory. Karytopye information revealed XO-haplo-IV pseudodiploid (Cherbas lab, unpublished). Cells have e/se genotype and are female, by criterion of dsx splicing (Lynch and Maniatis, 1996). Transcriptome analysis suggests plasmatocyte-like properties for Kc167 cells (Cherbas et al., 2011)" []	EFO:0005819	"Kc line established from 6-12 hr embryos of cross se x e. Clone 167 isolated in Goldschmitt-Clermont laboratory. Selected for growth in high-pH medium by Bourouis and Jarry. Restored to normal medium in Cherbas laboratory. Karytopye information revealed XO-haplo-IV pseudodiploid (Cherbas lab, unpublished). Cells have e/se genotype and are female, by criterion of dsx splicing (Lynch and Maniatis, 1996). Transcriptome analysis suggests plasmatocyte-like properties for Kc167 cells (Cherbas et al., 2011)" []	67455	\N	\N	EFO	0	EFO	Kc167	Kc167
EFO:0002926	EFO:0005819	\N	"" []	EFO:0005819	"Kc line established from 6-12 hr embryos of cross se x e. Clone 167 isolated in Goldschmitt-Clermont laboratory. Selected for growth in high-pH medium by Bourouis and Jarry. Restored to normal medium in Cherbas laboratory. Karytopye information revealed XO-haplo-IV pseudodiploid (Cherbas lab, unpublished). Cells have e/se genotype and are female, by criterion of dsx splicing (Lynch and Maniatis, 1996). Transcriptome analysis suggests plasmatocyte-like properties for Kc167 cells (Cherbas et al., 2011)" []	208997	\N	\N	EFO	1	EFO	ENCODE cell line	Kc167
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005819	"Kc line established from 6-12 hr embryos of cross se x e. Clone 167 isolated in Goldschmitt-Clermont laboratory. Selected for growth in high-pH medium by Bourouis and Jarry. Restored to normal medium in Cherbas laboratory. Karytopye information revealed XO-haplo-IV pseudodiploid (Cherbas lab, unpublished). Cells have e/se genotype and are female, by criterion of dsx splicing (Lynch and Maniatis, 1996). Transcriptome analysis suggests plasmatocyte-like properties for Kc167 cells (Cherbas et al., 2011)" []	562175	\N	\N	EFO	2	EFO	cell line	Kc167
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005819	"Kc line established from 6-12 hr embryos of cross se x e. Clone 167 isolated in Goldschmitt-Clermont laboratory. Selected for growth in high-pH medium by Bourouis and Jarry. Restored to normal medium in Cherbas laboratory. Karytopye information revealed XO-haplo-IV pseudodiploid (Cherbas lab, unpublished). Cells have e/se genotype and are female, by criterion of dsx splicing (Lynch and Maniatis, 1996). Transcriptome analysis suggests plasmatocyte-like properties for Kc167 cells (Cherbas et al., 2011)" []	1143768	\N	\N	EFO	3	EFO	material entity	Kc167
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005819	"Kc line established from 6-12 hr embryos of cross se x e. Clone 167 isolated in Goldschmitt-Clermont laboratory. Selected for growth in high-pH medium by Bourouis and Jarry. Restored to normal medium in Cherbas laboratory. Karytopye information revealed XO-haplo-IV pseudodiploid (Cherbas lab, unpublished). Cells have e/se genotype and are female, by criterion of dsx splicing (Lynch and Maniatis, 1996). Transcriptome analysis suggests plasmatocyte-like properties for Kc167 cells (Cherbas et al., 2011)" []	2026403	\N	\N	EFO	4	EFO	experimental factor	Kc167
EFO:0005820	\N	\N	"A tumorous blood cell line made from flies homozygous for the malignant blood neoplasm mutation l(2)mbn (Gateff, 1980)." []	EFO:0005820	"A tumorous blood cell line made from flies homozygous for the malignant blood neoplasm mutation l(2)mbn (Gateff, 1980)." []	67456	\N	\N	EFO	0	EFO	mbn2	mbn2
EFO:0002926	EFO:0005820	\N	"" []	EFO:0005820	"A tumorous blood cell line made from flies homozygous for the malignant blood neoplasm mutation l(2)mbn (Gateff, 1980)." []	208998	\N	\N	EFO	1	EFO	ENCODE cell line	mbn2
EFO:0002935	EFO:0005820	\N	"" []	EFO:0005820	"A tumorous blood cell line made from flies homozygous for the malignant blood neoplasm mutation l(2)mbn (Gateff, 1980)." []	208999	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	mbn2
EFO:0003040	EFO:0005820	\N	"" []	EFO:0005820	"A tumorous blood cell line made from flies homozygous for the malignant blood neoplasm mutation l(2)mbn (Gateff, 1980)." []	209000	\N	\N	EFO	1	EFO	embryonic cell line	mbn2
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005820	"A tumorous blood cell line made from flies homozygous for the malignant blood neoplasm mutation l(2)mbn (Gateff, 1980)." []	562176	\N	\N	EFO	2	EFO	cell line	mbn2
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005820	"A tumorous blood cell line made from flies homozygous for the malignant blood neoplasm mutation l(2)mbn (Gateff, 1980)." []	562177	\N	\N	EFO	2	EFO	cell line	mbn2
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005820	"A tumorous blood cell line made from flies homozygous for the malignant blood neoplasm mutation l(2)mbn (Gateff, 1980)." []	562178	\N	\N	EFO	2	EFO	cell line	mbn2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005820	"A tumorous blood cell line made from flies homozygous for the malignant blood neoplasm mutation l(2)mbn (Gateff, 1980)." []	1143769	\N	\N	EFO	3	EFO	material entity	mbn2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005820	"A tumorous blood cell line made from flies homozygous for the malignant blood neoplasm mutation l(2)mbn (Gateff, 1980)." []	2026404	\N	\N	EFO	4	EFO	experimental factor	mbn2
EFO:0005821	\N	\N	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).). Cells were cloned from their parent line ML-DmBG1 in the Miyake lab." []	EFO:0005821	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).). Cells were cloned from their parent line ML-DmBG1 in the Miyake lab." []	67457	\N	\N	EFO	0	EFO	ML-DmBG1-c1	ML-DmBG1-c1
EFO:0002926	EFO:0005821	\N	"" []	EFO:0005821	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).). Cells were cloned from their parent line ML-DmBG1 in the Miyake lab." []	209001	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmBG1-c1
EFO:0002935	EFO:0005821	\N	"" []	EFO:0005821	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).). Cells were cloned from their parent line ML-DmBG1 in the Miyake lab." []	209002	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmBG1-c1
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005821	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).). Cells were cloned from their parent line ML-DmBG1 in the Miyake lab." []	562179	\N	\N	EFO	2	EFO	cell line	ML-DmBG1-c1
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005821	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).). Cells were cloned from their parent line ML-DmBG1 in the Miyake lab." []	562180	\N	\N	EFO	2	EFO	cell line	ML-DmBG1-c1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005821	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).). Cells were cloned from their parent line ML-DmBG1 in the Miyake lab." []	1143770	\N	\N	EFO	3	EFO	material entity	ML-DmBG1-c1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005821	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).). Cells were cloned from their parent line ML-DmBG1 in the Miyake lab." []	2026405	\N	\N	EFO	4	EFO	experimental factor	ML-DmBG1-c1
EFO:0005822	\N	\N	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).) and was cloned from their parent line ML-DmBG2 in the Miyake lab. Cells are male, by criterion of roX1 and roX2 expression (DGRC unpublished). They express acetylcholine, substance P, proctolin, and somatostatin, and stains with anti-HRP (Ui-Tei et al., 1994, 1995)." []	EFO:0005822	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).) and was cloned from their parent line ML-DmBG2 in the Miyake lab. Cells are male, by criterion of roX1 and roX2 expression (DGRC unpublished). They express acetylcholine, substance P, proctolin, and somatostatin, and stains with anti-HRP (Ui-Tei et al., 1994, 1995)." []	67458	\N	\N	EFO	0	EFO	ML-DmBG2-c2	ML-DmBG2-c2
EFO:0002926	EFO:0005822	\N	"" []	EFO:0005822	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).) and was cloned from their parent line ML-DmBG2 in the Miyake lab. Cells are male, by criterion of roX1 and roX2 expression (DGRC unpublished). They express acetylcholine, substance P, proctolin, and somatostatin, and stains with anti-HRP (Ui-Tei et al., 1994, 1995)." []	209003	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmBG2-c2
EFO:0002935	EFO:0005822	\N	"" []	EFO:0005822	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).) and was cloned from their parent line ML-DmBG2 in the Miyake lab. Cells are male, by criterion of roX1 and roX2 expression (DGRC unpublished). They express acetylcholine, substance P, proctolin, and somatostatin, and stains with anti-HRP (Ui-Tei et al., 1994, 1995)." []	209004	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmBG2-c2
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005822	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).) and was cloned from their parent line ML-DmBG2 in the Miyake lab. Cells are male, by criterion of roX1 and roX2 expression (DGRC unpublished). They express acetylcholine, substance P, proctolin, and somatostatin, and stains with anti-HRP (Ui-Tei et al., 1994, 1995)." []	562181	\N	\N	EFO	2	EFO	cell line	ML-DmBG2-c2
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005822	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).) and was cloned from their parent line ML-DmBG2 in the Miyake lab. Cells are male, by criterion of roX1 and roX2 expression (DGRC unpublished). They express acetylcholine, substance P, proctolin, and somatostatin, and stains with anti-HRP (Ui-Tei et al., 1994, 1995)." []	562182	\N	\N	EFO	2	EFO	cell line	ML-DmBG2-c2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005822	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).) and was cloned from their parent line ML-DmBG2 in the Miyake lab. Cells are male, by criterion of roX1 and roX2 expression (DGRC unpublished). They express acetylcholine, substance P, proctolin, and somatostatin, and stains with anti-HRP (Ui-Tei et al., 1994, 1995)." []	1143771	\N	\N	EFO	3	EFO	material entity	ML-DmBG2-c2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005822	"This cell line was made from the L3 (y v f mal) central nervous system (Ui et al., 1994).) and was cloned from their parent line ML-DmBG2 in the Miyake lab. Cells are male, by criterion of roX1 and roX2 expression (DGRC unpublished). They express acetylcholine, substance P, proctolin, and somatostatin, and stains with anti-HRP (Ui-Tei et al., 1994, 1995)." []	2026406	\N	\N	EFO	4	EFO	experimental factor	ML-DmBG2-c2
EFO:0005823	\N	\N	"ML-DmBG3-c2 cells were made from the brain ventral ganglion of late L3 (y v f mal). Cloned from their parent line ML-DMBG3 in the Miyake lab." []	EFO:0005823	"ML-DmBG3-c2 cells were made from the brain ventral ganglion of late L3 (y v f mal). Cloned from their parent line ML-DMBG3 in the Miyake lab." []	67459	\N	\N	EFO	0	EFO	ML-DmBG3-c2	ML-DmBG3-c2
EFO:0002926	EFO:0005823	\N	"" []	EFO:0005823	"ML-DmBG3-c2 cells were made from the brain ventral ganglion of late L3 (y v f mal). Cloned from their parent line ML-DMBG3 in the Miyake lab." []	209005	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmBG3-c2
EFO:0002935	EFO:0005823	\N	"" []	EFO:0005823	"ML-DmBG3-c2 cells were made from the brain ventral ganglion of late L3 (y v f mal). Cloned from their parent line ML-DMBG3 in the Miyake lab." []	209006	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmBG3-c2
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005823	"ML-DmBG3-c2 cells were made from the brain ventral ganglion of late L3 (y v f mal). Cloned from their parent line ML-DMBG3 in the Miyake lab." []	562183	\N	\N	EFO	2	EFO	cell line	ML-DmBG3-c2
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005823	"ML-DmBG3-c2 cells were made from the brain ventral ganglion of late L3 (y v f mal). Cloned from their parent line ML-DMBG3 in the Miyake lab." []	562184	\N	\N	EFO	2	EFO	cell line	ML-DmBG3-c2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005823	"ML-DmBG3-c2 cells were made from the brain ventral ganglion of late L3 (y v f mal). Cloned from their parent line ML-DMBG3 in the Miyake lab." []	1143772	\N	\N	EFO	3	EFO	material entity	ML-DmBG3-c2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005823	"ML-DmBG3-c2 cells were made from the brain ventral ganglion of late L3 (y v f mal). Cloned from their parent line ML-DMBG3 in the Miyake lab." []	2026407	\N	\N	EFO	4	EFO	experimental factor	ML-DmBG3-c2
EFO:0005824	\N	\N	"These cells are from the third instar larval stage, made from eye-antenna discs of late L3 (y v f mal) in the Miyake lab." []	EFO:0005824	"These cells are from the third instar larval stage, made from eye-antenna discs of late L3 (y v f mal) in the Miyake lab." []	67460	\N	\N	EFO	0	EFO	ML-DmD11	ML-DmD11
EFO:0002926	EFO:0005824	\N	"" []	EFO:0005824	"These cells are from the third instar larval stage, made from eye-antenna discs of late L3 (y v f mal) in the Miyake lab." []	209007	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmD11
EFO:0002935	EFO:0005824	\N	"" []	EFO:0005824	"These cells are from the third instar larval stage, made from eye-antenna discs of late L3 (y v f mal) in the Miyake lab." []	209008	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmD11
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005824	"These cells are from the third instar larval stage, made from eye-antenna discs of late L3 (y v f mal) in the Miyake lab." []	562185	\N	\N	EFO	2	EFO	cell line	ML-DmD11
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005824	"These cells are from the third instar larval stage, made from eye-antenna discs of late L3 (y v f mal) in the Miyake lab." []	562186	\N	\N	EFO	2	EFO	cell line	ML-DmD11
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005824	"These cells are from the third instar larval stage, made from eye-antenna discs of late L3 (y v f mal) in the Miyake lab." []	1143773	\N	\N	EFO	3	EFO	material entity	ML-DmD11
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005824	"These cells are from the third instar larval stage, made from eye-antenna discs of late L3 (y v f mal) in the Miyake lab." []	2026408	\N	\N	EFO	4	EFO	experimental factor	ML-DmD11
EFO:0005825	\N	\N	"The line was derived from L3 wing discs (Ui et al., 1987). Transcriptome analysis suggests similarity to cells in the notal region, but not to adepithelial cells (Cherbas et al., 2011). Cells are also female, by criterion of Rox expression." []	EFO:0005825	"The line was derived from L3 wing discs (Ui et al., 1987). Transcriptome analysis suggests similarity to cells in the notal region, but not to adepithelial cells (Cherbas et al., 2011). Cells are also female, by criterion of Rox expression." []	67461	\N	\N	EFO	0	EFO	ML-DmD16-c3	ML-DmD16-c3
EFO:0002926	EFO:0005825	\N	"" []	EFO:0005825	"The line was derived from L3 wing discs (Ui et al., 1987). Transcriptome analysis suggests similarity to cells in the notal region, but not to adepithelial cells (Cherbas et al., 2011). Cells are also female, by criterion of Rox expression." []	209009	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmD16-c3
EFO:0002935	EFO:0005825	\N	"" []	EFO:0005825	"The line was derived from L3 wing discs (Ui et al., 1987). Transcriptome analysis suggests similarity to cells in the notal region, but not to adepithelial cells (Cherbas et al., 2011). Cells are also female, by criterion of Rox expression." []	209010	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmD16-c3
EFO:0003040	EFO:0005825	\N	"" []	EFO:0005825	"The line was derived from L3 wing discs (Ui et al., 1987). Transcriptome analysis suggests similarity to cells in the notal region, but not to adepithelial cells (Cherbas et al., 2011). Cells are also female, by criterion of Rox expression." []	209011	\N	\N	EFO	1	EFO	embryonic cell line	ML-DmD16-c3
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005825	"The line was derived from L3 wing discs (Ui et al., 1987). Transcriptome analysis suggests similarity to cells in the notal region, but not to adepithelial cells (Cherbas et al., 2011). Cells are also female, by criterion of Rox expression." []	562187	\N	\N	EFO	2	EFO	cell line	ML-DmD16-c3
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005825	"The line was derived from L3 wing discs (Ui et al., 1987). Transcriptome analysis suggests similarity to cells in the notal region, but not to adepithelial cells (Cherbas et al., 2011). Cells are also female, by criterion of Rox expression." []	562188	\N	\N	EFO	2	EFO	cell line	ML-DmD16-c3
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005825	"The line was derived from L3 wing discs (Ui et al., 1987). Transcriptome analysis suggests similarity to cells in the notal region, but not to adepithelial cells (Cherbas et al., 2011). Cells are also female, by criterion of Rox expression." []	562189	\N	\N	EFO	2	EFO	cell line	ML-DmD16-c3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005825	"The line was derived from L3 wing discs (Ui et al., 1987). Transcriptome analysis suggests similarity to cells in the notal region, but not to adepithelial cells (Cherbas et al., 2011). Cells are also female, by criterion of Rox expression." []	1143774	\N	\N	EFO	3	EFO	material entity	ML-DmD16-c3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005825	"The line was derived from L3 wing discs (Ui et al., 1987). Transcriptome analysis suggests similarity to cells in the notal region, but not to adepithelial cells (Cherbas et al., 2011). Cells are also female, by criterion of Rox expression." []	2026409	\N	\N	EFO	4	EFO	experimental factor	ML-DmD16-c3
EFO:0005826	\N	\N	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal metathoracic discs. Originated from the Miyake lab and cloned from its parent ML-DMD17 cell line." []	EFO:0005826	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal metathoracic discs. Originated from the Miyake lab and cloned from its parent ML-DMD17 cell line." []	67462	\N	\N	EFO	0	EFO	ML-DmD17-c3	ML-DmD17-c3
EFO:0002926	EFO:0005826	\N	"" []	EFO:0005826	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal metathoracic discs. Originated from the Miyake lab and cloned from its parent ML-DMD17 cell line." []	209012	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmD17-c3
EFO:0002935	EFO:0005826	\N	"" []	EFO:0005826	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal metathoracic discs. Originated from the Miyake lab and cloned from its parent ML-DMD17 cell line." []	209013	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmD17-c3
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005826	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal metathoracic discs. Originated from the Miyake lab and cloned from its parent ML-DMD17 cell line." []	562190	\N	\N	EFO	2	EFO	cell line	ML-DmD17-c3
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005826	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal metathoracic discs. Originated from the Miyake lab and cloned from its parent ML-DMD17 cell line." []	562191	\N	\N	EFO	2	EFO	cell line	ML-DmD17-c3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005826	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal metathoracic discs. Originated from the Miyake lab and cloned from its parent ML-DMD17 cell line." []	1143775	\N	\N	EFO	3	EFO	material entity	ML-DmD17-c3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005826	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal metathoracic discs. Originated from the Miyake lab and cloned from its parent ML-DMD17 cell line." []	2026410	\N	\N	EFO	4	EFO	experimental factor	ML-DmD17-c3
EFO:0005827	\N	\N	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	EFO:0005827	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	67463	\N	\N	EFO	0	EFO	ML-DmD20-c2	ML-DmD20-c2
EFO:0002926	EFO:0005827	\N	"" []	EFO:0005827	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	209014	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmD20-c2
EFO:0002935	EFO:0005827	\N	"" []	EFO:0005827	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	209015	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmD20-c2
EFO:0003040	EFO:0005827	\N	"" []	EFO:0005827	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	209016	\N	\N	EFO	1	EFO	embryonic cell line	ML-DmD20-c2
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005827	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	562192	\N	\N	EFO	2	EFO	cell line	ML-DmD20-c2
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005827	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	562193	\N	\N	EFO	2	EFO	cell line	ML-DmD20-c2
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005827	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	562194	\N	\N	EFO	2	EFO	cell line	ML-DmD20-c2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005827	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	1143776	\N	\N	EFO	3	EFO	material entity	ML-DmD20-c2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005827	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	2026411	\N	\N	EFO	4	EFO	experimental factor	ML-DmD20-c2
EFO:0005828	\N	\N	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	EFO:0005828	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	67464	\N	\N	EFO	0	EFO	ML-DmD20-c5	ML-DmD20-c5
EFO:0002926	EFO:0005828	\N	"" []	EFO:0005828	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	209017	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmD20-c5
EFO:0002935	EFO:0005828	\N	"" []	EFO:0005828	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	209018	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmD20-c5
EFO:0003040	EFO:0005828	\N	"" []	EFO:0005828	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	209019	\N	\N	EFO	1	EFO	embryonic cell line	ML-DmD20-c5
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005828	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	562195	\N	\N	EFO	2	EFO	cell line	ML-DmD20-c5
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005828	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	562196	\N	\N	EFO	2	EFO	cell line	ML-DmD20-c5
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005828	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	562197	\N	\N	EFO	2	EFO	cell line	ML-DmD20-c5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005828	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	1143777	\N	\N	EFO	3	EFO	material entity	ML-DmD20-c5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005828	"This cell line was derived from the third instar larval stage (y v f mal) of antennal discs. Originated from the Miyake lab and cloned from its parent ML-DMD20 cell line. Cells are male, by criterion of roX expression." []	2026412	\N	\N	EFO	4	EFO	experimental factor	ML-DmD20-c5
EFO:0005829	\N	\N	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. The cells originated from the Miyake lab, and are male by criterion of roX expression (DGRC, unpublished)." []	EFO:0005829	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. The cells originated from the Miyake lab, and are male by criterion of roX expression (DGRC, unpublished)." []	67465	\N	\N	EFO	0	EFO	ML-DmD21	ML-DmD21
EFO:0002926	EFO:0005829	\N	"" []	EFO:0005829	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. The cells originated from the Miyake lab, and are male by criterion of roX expression (DGRC, unpublished)." []	209020	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmD21
EFO:0002935	EFO:0005829	\N	"" []	EFO:0005829	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. The cells originated from the Miyake lab, and are male by criterion of roX expression (DGRC, unpublished)." []	209021	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmD21
EFO:0003040	EFO:0005829	\N	"" []	EFO:0005829	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. The cells originated from the Miyake lab, and are male by criterion of roX expression (DGRC, unpublished)." []	209022	\N	\N	EFO	1	EFO	embryonic cell line	ML-DmD21
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005829	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. The cells originated from the Miyake lab, and are male by criterion of roX expression (DGRC, unpublished)." []	562198	\N	\N	EFO	2	EFO	cell line	ML-DmD21
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005829	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. The cells originated from the Miyake lab, and are male by criterion of roX expression (DGRC, unpublished)." []	562199	\N	\N	EFO	2	EFO	cell line	ML-DmD21
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005829	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. The cells originated from the Miyake lab, and are male by criterion of roX expression (DGRC, unpublished)." []	562200	\N	\N	EFO	2	EFO	cell line	ML-DmD21
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005829	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. The cells originated from the Miyake lab, and are male by criterion of roX expression (DGRC, unpublished)." []	1143778	\N	\N	EFO	3	EFO	material entity	ML-DmD21
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005829	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. The cells originated from the Miyake lab, and are male by criterion of roX expression (DGRC, unpublished)." []	2026413	\N	\N	EFO	4	EFO	experimental factor	ML-DmD21
EFO:0005830	\N	\N	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	EFO:0005830	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	67466	\N	\N	EFO	0	EFO	ML-DmD32	ML-DmD32
EFO:0002926	EFO:0005830	\N	"" []	EFO:0005830	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	209023	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmD32
EFO:0002935	EFO:0005830	\N	"" []	EFO:0005830	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	209024	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmD32
EFO:0003040	EFO:0005830	\N	"" []	EFO:0005830	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	209025	\N	\N	EFO	1	EFO	embryonic cell line	ML-DmD32
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005830	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	562201	\N	\N	EFO	2	EFO	cell line	ML-DmD32
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005830	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	562202	\N	\N	EFO	2	EFO	cell line	ML-DmD32
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005830	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	562203	\N	\N	EFO	2	EFO	cell line	ML-DmD32
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005830	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	1143779	\N	\N	EFO	3	EFO	material entity	ML-DmD32
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005830	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	2026414	\N	\N	EFO	4	EFO	experimental factor	ML-DmD32
EFO:0005831	\N	\N	"This cell line was derived from the third instar larval stage (y v f mal) of imaginal discs. Originated from the Miyake lab and cloned from its parent ML-DMD4 cell line." []	EFO:0005831	"This cell line was derived from the third instar larval stage (y v f mal) of imaginal discs. Originated from the Miyake lab and cloned from its parent ML-DMD4 cell line." []	67467	\N	\N	EFO	0	EFO	ML-DmD4-c1	ML-DmD4-c1
EFO:0002926	EFO:0005831	\N	"" []	EFO:0005831	"This cell line was derived from the third instar larval stage (y v f mal) of imaginal discs. Originated from the Miyake lab and cloned from its parent ML-DMD4 cell line." []	209026	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmD4-c1
EFO:0002935	EFO:0005831	\N	"" []	EFO:0005831	"This cell line was derived from the third instar larval stage (y v f mal) of imaginal discs. Originated from the Miyake lab and cloned from its parent ML-DMD4 cell line." []	209027	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmD4-c1
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005831	"This cell line was derived from the third instar larval stage (y v f mal) of imaginal discs. Originated from the Miyake lab and cloned from its parent ML-DMD4 cell line." []	562204	\N	\N	EFO	2	EFO	cell line	ML-DmD4-c1
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005831	"This cell line was derived from the third instar larval stage (y v f mal) of imaginal discs. Originated from the Miyake lab and cloned from its parent ML-DMD4 cell line." []	562205	\N	\N	EFO	2	EFO	cell line	ML-DmD4-c1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005831	"This cell line was derived from the third instar larval stage (y v f mal) of imaginal discs. Originated from the Miyake lab and cloned from its parent ML-DMD4 cell line." []	1143780	\N	\N	EFO	3	EFO	material entity	ML-DmD4-c1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005831	"This cell line was derived from the third instar larval stage (y v f mal) of imaginal discs. Originated from the Miyake lab and cloned from its parent ML-DMD4 cell line." []	2026415	\N	\N	EFO	4	EFO	experimental factor	ML-DmD4-c1
EFO:0005832	\N	\N	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	EFO:0005832	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	67468	\N	\N	EFO	0	EFO	ML-DmD8	ML-DmD8
EFO:0002926	EFO:0005832	\N	"" []	EFO:0005832	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	209028	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmD8
EFO:0002935	EFO:0005832	\N	"" []	EFO:0005832	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	209029	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmD8
EFO:0003040	EFO:0005832	\N	"" []	EFO:0005832	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	209030	\N	\N	EFO	1	EFO	embryonic cell line	ML-DmD8
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005832	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	562206	\N	\N	EFO	2	EFO	cell line	ML-DmD8
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005832	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	562207	\N	\N	EFO	2	EFO	cell line	ML-DmD8
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005832	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	562208	\N	\N	EFO	2	EFO	cell line	ML-DmD8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005832	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	1143781	\N	\N	EFO	3	EFO	material entity	ML-DmD8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005832	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	2026416	\N	\N	EFO	4	EFO	experimental factor	ML-DmD8
EFO:0005833	\N	\N	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	EFO:0005833	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	67469	\N	\N	EFO	0	EFO	ML-DmD9	ML-DmD9
EFO:0002926	EFO:0005833	\N	"" []	EFO:0005833	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	209031	\N	\N	EFO	1	EFO	ENCODE cell line	ML-DmD9
EFO:0002935	EFO:0005833	\N	"" []	EFO:0005833	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	209032	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	ML-DmD9
EFO:0003040	EFO:0005833	\N	"" []	EFO:0005833	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	209033	\N	\N	EFO	1	EFO	embryonic cell line	ML-DmD9
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005833	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	562209	\N	\N	EFO	2	EFO	cell line	ML-DmD9
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005833	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	562210	\N	\N	EFO	2	EFO	cell line	ML-DmD9
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005833	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	562211	\N	\N	EFO	2	EFO	cell line	ML-DmD9
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005833	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	1143782	\N	\N	EFO	3	EFO	material entity	ML-DmD9
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005833	"This cell line was derived from the third instar larval stage (y v f mal) of dorsal mesothoracic discs. Originated from the Miyake lab." []	2026417	\N	\N	EFO	4	EFO	experimental factor	ML-DmD9
EFO:0005834	\N	\N	"Ovarian somatic adult stage cells originated in the Siomi lab." []	EFO:0005834	"Ovarian somatic adult stage cells originated in the Siomi lab." []	67470	\N	\N	EFO	0	EFO	OSC	OSC
EFO:0002926	EFO:0005834	\N	"" []	EFO:0005834	"Ovarian somatic adult stage cells originated in the Siomi lab." []	209034	\N	\N	EFO	1	EFO	ENCODE cell line	OSC
EFO:0002935	EFO:0005834	\N	"" []	EFO:0005834	"Ovarian somatic adult stage cells originated in the Siomi lab." []	209035	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	OSC
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005834	"Ovarian somatic adult stage cells originated in the Siomi lab." []	562212	\N	\N	EFO	2	EFO	cell line	OSC
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005834	"Ovarian somatic adult stage cells originated in the Siomi lab." []	562213	\N	\N	EFO	2	EFO	cell line	OSC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005834	"Ovarian somatic adult stage cells originated in the Siomi lab." []	1143783	\N	\N	EFO	3	EFO	material entity	OSC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005834	"Ovarian somatic adult stage cells originated in the Siomi lab." []	2026418	\N	\N	EFO	4	EFO	experimental factor	OSC
EFO:0005835	\N	\N	"" []	EFO:0005835	"" []	67471	\N	\N	EFO	0	EFO	OSS	OSS
EFO:0002926	EFO:0005835	\N	"" []	EFO:0005835	"" []	209036	\N	\N	EFO	1	EFO	ENCODE cell line	OSS
EFO:0002935	EFO:0005835	\N	"" []	EFO:0005835	"" []	209037	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	OSS
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005835	"" []	562214	\N	\N	EFO	2	EFO	cell line	OSS
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005835	"" []	562215	\N	\N	EFO	2	EFO	cell line	OSS
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005835	"" []	1143784	\N	\N	EFO	3	EFO	material entity	OSS
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005835	"" []	2026419	\N	\N	EFO	4	EFO	experimental factor	OSS
EFO:0005836	\N	\N	"This S2 isolate is the one routinely used for RNAi screens at the DRSC; it is referred to at the DRSC as \\"S2\\". Its relationship to the line we call \\"S2\\" (catalog #006) is not known." []	EFO:0005836	"This S2 isolate is the one routinely used for RNAi screens at the DRSC; it is referred to at the DRSC as \\"S2\\". Its relationship to the line we call \\"S2\\" (catalog #006) is not known." []	67472	\N	\N	EFO	0	EFO	S2-DRSC	S2-DRSC
EFO:0002926	EFO:0005836	\N	"" []	EFO:0005836	"This S2 isolate is the one routinely used for RNAi screens at the DRSC; it is referred to at the DRSC as \\"S2\\". Its relationship to the line we call \\"S2\\" (catalog #006) is not known." []	209038	\N	\N	EFO	1	EFO	ENCODE cell line	S2-DRSC
EFO:0002935	EFO:0005836	\N	"" []	EFO:0005836	"This S2 isolate is the one routinely used for RNAi screens at the DRSC; it is referred to at the DRSC as \\"S2\\". Its relationship to the line we call \\"S2\\" (catalog #006) is not known." []	209039	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	S2-DRSC
EFO:0003040	EFO:0005836	\N	"" []	EFO:0005836	"This S2 isolate is the one routinely used for RNAi screens at the DRSC; it is referred to at the DRSC as \\"S2\\". Its relationship to the line we call \\"S2\\" (catalog #006) is not known." []	209040	\N	\N	EFO	1	EFO	embryonic cell line	S2-DRSC
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005836	"This S2 isolate is the one routinely used for RNAi screens at the DRSC; it is referred to at the DRSC as \\"S2\\". Its relationship to the line we call \\"S2\\" (catalog #006) is not known." []	562216	\N	\N	EFO	2	EFO	cell line	S2-DRSC
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005836	"This S2 isolate is the one routinely used for RNAi screens at the DRSC; it is referred to at the DRSC as \\"S2\\". Its relationship to the line we call \\"S2\\" (catalog #006) is not known." []	562217	\N	\N	EFO	2	EFO	cell line	S2-DRSC
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005836	"This S2 isolate is the one routinely used for RNAi screens at the DRSC; it is referred to at the DRSC as \\"S2\\". Its relationship to the line we call \\"S2\\" (catalog #006) is not known." []	562218	\N	\N	EFO	2	EFO	cell line	S2-DRSC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005836	"This S2 isolate is the one routinely used for RNAi screens at the DRSC; it is referred to at the DRSC as \\"S2\\". Its relationship to the line we call \\"S2\\" (catalog #006) is not known." []	1143785	\N	\N	EFO	3	EFO	material entity	S2-DRSC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005836	"This S2 isolate is the one routinely used for RNAi screens at the DRSC; it is referred to at the DRSC as \\"S2\\". Its relationship to the line we call \\"S2\\" (catalog #006) is not known." []	2026420	\N	\N	EFO	4	EFO	experimental factor	S2-DRSC
EFO:0005837	\N	\N	"An isolate of S2 cells that was found in the Miyake laboratory freezer. It was contributed to the Miyake lab by Imogene Schneider and is likely to be very similar to the original S2 line. an isolate of S2 that has receptors for wg signalling." []	EFO:0005837	"An isolate of S2 cells that was found in the Miyake laboratory freezer. It was contributed to the Miyake lab by Imogene Schneider and is likely to be very similar to the original S2 line. an isolate of S2 that has receptors for wg signalling." []	67473	\N	\N	EFO	0	EFO	S2R+	S2R+
EFO:0002926	EFO:0005837	\N	"" []	EFO:0005837	"An isolate of S2 cells that was found in the Miyake laboratory freezer. It was contributed to the Miyake lab by Imogene Schneider and is likely to be very similar to the original S2 line. an isolate of S2 that has receptors for wg signalling." []	209041	\N	\N	EFO	1	EFO	ENCODE cell line	S2R+
EFO:0002935	EFO:0005837	\N	"" []	EFO:0005837	"An isolate of S2 cells that was found in the Miyake laboratory freezer. It was contributed to the Miyake lab by Imogene Schneider and is likely to be very similar to the original S2 line. an isolate of S2 that has receptors for wg signalling." []	209042	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	S2R+
EFO:0003040	EFO:0005837	\N	"" []	EFO:0005837	"An isolate of S2 cells that was found in the Miyake laboratory freezer. It was contributed to the Miyake lab by Imogene Schneider and is likely to be very similar to the original S2 line. an isolate of S2 that has receptors for wg signalling." []	209043	\N	\N	EFO	1	EFO	embryonic cell line	S2R+
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005837	"An isolate of S2 cells that was found in the Miyake laboratory freezer. It was contributed to the Miyake lab by Imogene Schneider and is likely to be very similar to the original S2 line. an isolate of S2 that has receptors for wg signalling." []	562219	\N	\N	EFO	2	EFO	cell line	S2R+
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005837	"An isolate of S2 cells that was found in the Miyake laboratory freezer. It was contributed to the Miyake lab by Imogene Schneider and is likely to be very similar to the original S2 line. an isolate of S2 that has receptors for wg signalling." []	562220	\N	\N	EFO	2	EFO	cell line	S2R+
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005837	"An isolate of S2 cells that was found in the Miyake laboratory freezer. It was contributed to the Miyake lab by Imogene Schneider and is likely to be very similar to the original S2 line. an isolate of S2 that has receptors for wg signalling." []	562221	\N	\N	EFO	2	EFO	cell line	S2R+
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005837	"An isolate of S2 cells that was found in the Miyake laboratory freezer. It was contributed to the Miyake lab by Imogene Schneider and is likely to be very similar to the original S2 line. an isolate of S2 that has receptors for wg signalling." []	1143786	\N	\N	EFO	3	EFO	material entity	S2R+
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005837	"An isolate of S2 cells that was found in the Miyake laboratory freezer. It was contributed to the Miyake lab by Imogene Schneider and is likely to be very similar to the original S2 line. an isolate of S2 that has receptors for wg signalling." []	2026421	\N	\N	EFO	4	EFO	experimental factor	S2R+
EFO:0005838	\N	\N	"These cells were made from Oregon R embryos on the verge of hatching in the late embryonic stage. Originated in the Schneider lab." []	EFO:0005838	"These cells were made from Oregon R embryos on the verge of hatching in the late embryonic stage. Originated in the Schneider lab." []	67474	\N	\N	EFO	0	EFO	S3	S3
EFO:0002926	EFO:0005838	\N	"" []	EFO:0005838	"These cells were made from Oregon R embryos on the verge of hatching in the late embryonic stage. Originated in the Schneider lab." []	209044	\N	\N	EFO	1	EFO	ENCODE cell line	S3
EFO:0002935	EFO:0005838	\N	"" []	EFO:0005838	"These cells were made from Oregon R embryos on the verge of hatching in the late embryonic stage. Originated in the Schneider lab." []	209045	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	S3
EFO:0003040	EFO:0005838	\N	"" []	EFO:0005838	"These cells were made from Oregon R embryos on the verge of hatching in the late embryonic stage. Originated in the Schneider lab." []	209046	\N	\N	EFO	1	EFO	embryonic cell line	S3
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005838	"These cells were made from Oregon R embryos on the verge of hatching in the late embryonic stage. Originated in the Schneider lab." []	562222	\N	\N	EFO	2	EFO	cell line	S3
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005838	"These cells were made from Oregon R embryos on the verge of hatching in the late embryonic stage. Originated in the Schneider lab." []	562223	\N	\N	EFO	2	EFO	cell line	S3
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005838	"These cells were made from Oregon R embryos on the verge of hatching in the late embryonic stage. Originated in the Schneider lab." []	562224	\N	\N	EFO	2	EFO	cell line	S3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005838	"These cells were made from Oregon R embryos on the verge of hatching in the late embryonic stage. Originated in the Schneider lab." []	1143787	\N	\N	EFO	3	EFO	material entity	S3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005838	"These cells were made from Oregon R embryos on the verge of hatching in the late embryonic stage. Originated in the Schneider lab." []	2026422	\N	\N	EFO	4	EFO	experimental factor	S3
EFO:0005839	\N	\N	"Clone of S2. Differs from the S2 cell distributed by the DGRC in many transcriptional properties, among them a higher expression of Abd-B in Sg4, and a much higher expression of defensins in S2." []	EFO:0005839	"Clone of S2. Differs from the S2 cell distributed by the DGRC in many transcriptional properties, among them a higher expression of Abd-B in Sg4, and a much higher expression of defensins in S2." []	67475	\N	\N	EFO	0	EFO	Sg4	Sg4
EFO:0002926	EFO:0005839	\N	"" []	EFO:0005839	"Clone of S2. Differs from the S2 cell distributed by the DGRC in many transcriptional properties, among them a higher expression of Abd-B in Sg4, and a much higher expression of defensins in S2." []	209047	\N	\N	EFO	1	EFO	ENCODE cell line	Sg4
EFO:0002935	EFO:0005839	\N	"" []	EFO:0005839	"Clone of S2. Differs from the S2 cell distributed by the DGRC in many transcriptional properties, among them a higher expression of Abd-B in Sg4, and a much higher expression of defensins in S2." []	209048	\N	\N	EFO	1	EFO	Drosophila melanogaster cell line	Sg4
EFO:0003040	EFO:0005839	\N	"" []	EFO:0005839	"Clone of S2. Differs from the S2 cell distributed by the DGRC in many transcriptional properties, among them a higher expression of Abd-B in Sg4, and a much higher expression of defensins in S2." []	209049	\N	\N	EFO	1	EFO	embryonic cell line	Sg4
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005839	"Clone of S2. Differs from the S2 cell distributed by the DGRC in many transcriptional properties, among them a higher expression of Abd-B in Sg4, and a much higher expression of defensins in S2." []	562225	\N	\N	EFO	2	EFO	cell line	Sg4
EFO:0000322	EFO:0002935	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005839	"Clone of S2. Differs from the S2 cell distributed by the DGRC in many transcriptional properties, among them a higher expression of Abd-B in Sg4, and a much higher expression of defensins in S2." []	562226	\N	\N	EFO	2	EFO	cell line	Sg4
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005839	"Clone of S2. Differs from the S2 cell distributed by the DGRC in many transcriptional properties, among them a higher expression of Abd-B in Sg4, and a much higher expression of defensins in S2." []	562227	\N	\N	EFO	2	EFO	cell line	Sg4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005839	"Clone of S2. Differs from the S2 cell distributed by the DGRC in many transcriptional properties, among them a higher expression of Abd-B in Sg4, and a much higher expression of defensins in S2." []	1143788	\N	\N	EFO	3	EFO	material entity	Sg4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005839	"Clone of S2. Differs from the S2 cell distributed by the DGRC in many transcriptional properties, among them a higher expression of Abd-B in Sg4, and a much higher expression of defensins in S2." []	2026423	\N	\N	EFO	4	EFO	experimental factor	Sg4
EFO:0005840	\N	\N	"Autosomal dominant phenotype characterized by increase of red blood cell ATP." []	EFO:0005840	"Autosomal dominant phenotype characterized by increase of red blood cell ATP." []	67476	\N	\N	EFO	0	EFO	Pyruvate kinase hyperactivity	Pyruvate kinase hyperactivity
Orphanet:254746	EFO:0005840	\N	"" []	EFO:0005840	"Autosomal dominant phenotype characterized by increase of red blood cell ATP." []	209050	\N	\N	EFO	1	EFO	Pyruvate metabolism disorder	Pyruvate kinase hyperactivity
Orphanet:79200	Orphanet:254746	\N	"" []	EFO:0005840	"Autosomal dominant phenotype characterized by increase of red blood cell ATP." []	562228	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Pyruvate kinase hyperactivity
Orphanet:68367	Orphanet:79200	\N	"" []	EFO:0005840	"Autosomal dominant phenotype characterized by increase of red blood cell ATP." []	1143789	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Pyruvate kinase hyperactivity
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0005840	"Autosomal dominant phenotype characterized by increase of red blood cell ATP." []	2026424	\N	\N	EFO	4	EFO	genetic disorder	Pyruvate kinase hyperactivity
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0005840	"Autosomal dominant phenotype characterized by increase of red blood cell ATP." []	2026425	\N	\N	EFO	4	EFO	metabolic disease	Pyruvate kinase hyperactivity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005840	"Autosomal dominant phenotype characterized by increase of red blood cell ATP." []	3178582	\N	\N	EFO	5	EFO	disease	Pyruvate kinase hyperactivity
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005840	"Autosomal dominant phenotype characterized by increase of red blood cell ATP." []	3178583	\N	\N	EFO	5	EFO	disease	Pyruvate kinase hyperactivity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005840	"Autosomal dominant phenotype characterized by increase of red blood cell ATP." []	4388313	\N	\N	EFO	6	EFO	disposition	Pyruvate kinase hyperactivity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005840	"Autosomal dominant phenotype characterized by increase of red blood cell ATP." []	5408850	\N	\N	EFO	7	EFO	material property	Pyruvate kinase hyperactivity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005840	"Autosomal dominant phenotype characterized by increase of red blood cell ATP." []	6147512	\N	\N	EFO	8	EFO	experimental factor	Pyruvate kinase hyperactivity
EFO:0005842	\N	\N	"A large intestine cancer that is located in the colon and/or located in the rectum." []	EFO:0005842	"A large intestine cancer that is located in the colon and/or located in the rectum." []	67477	\N	\N	EFO	0	EFO	colorectal cancer	colorectal cancer
EFO:0000311	EFO:0005842	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005842	"A large intestine cancer that is located in the colon and/or located in the rectum." []	209051	\N	\N	EFO	1	EFO	cancer	colorectal cancer
EFO:0000405	EFO:0005842	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005842	"A large intestine cancer that is located in the colon and/or located in the rectum." []	209052	\N	\N	EFO	1	EFO	digestive system disease	colorectal cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005842	"A large intestine cancer that is located in the colon and/or located in the rectum." []	562229	\N	\N	EFO	2	EFO	neoplasm	colorectal cancer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005842	"A large intestine cancer that is located in the colon and/or located in the rectum." []	562230	\N	\N	EFO	2	EFO	disease	colorectal cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005842	"A large intestine cancer that is located in the colon and/or located in the rectum." []	1143790	\N	\N	EFO	3	EFO	disease	colorectal cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005842	"A large intestine cancer that is located in the colon and/or located in the rectum." []	2026426	\N	\N	EFO	4	EFO	disposition	colorectal cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005842	"A large intestine cancer that is located in the colon and/or located in the rectum." []	2999666	\N	\N	EFO	5	EFO	material property	colorectal cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005842	"A large intestine cancer that is located in the colon and/or located in the rectum." []	4132690	\N	\N	EFO	6	EFO	experimental factor	colorectal cancer
EFO:0005843	\N	\N	"quantification of the hormone cortisol in blood or urine" []	EFO:0005843	"quantification of the hormone cortisol in blood or urine" []	67478	\N	\N	EFO	0	EFO	cortisol measurement	cortisol measurement
EFO:0004730	EFO:0005843	\N	"" []	EFO:0005843	"quantification of the hormone cortisol in blood or urine" []	209053	\N	\N	EFO	1	EFO	hormone measurement	cortisol measurement
EFO:0006848	EFO:0005843	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0005843	"quantification of the hormone cortisol in blood or urine" []	209054	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	cortisol measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005843	"quantification of the hormone cortisol in blood or urine" []	562231	\N	\N	EFO	2	EFO	measurement	cortisol measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005843	"quantification of the hormone cortisol in blood or urine" []	562232	\N	\N	EFO	2	EFO	measurement	cortisol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005843	"quantification of the hormone cortisol in blood or urine" []	1143792	\N	\N	EFO	3	EFO	information entity	cortisol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005843	"quantification of the hormone cortisol in blood or urine" []	2026428	\N	\N	EFO	4	EFO	experimental factor	cortisol measurement
EFO:0005844	\N	\N	"physiological response (usually immune system response) of an organism to contact with a dietary antigen" []	EFO:0005844	"physiological response (usually immune system response) of an organism to contact with a dietary antigen" []	67479	\N	\N	EFO	0	EFO	response to dietary antigen	response to dietary antigen
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0005844	"physiological response (usually immune system response) of an organism to contact with a dietary antigen" []	194754	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to dietary antigen
EFO:0005845	\N	\N	"Hemoglobin A2 measurement is a measure of the quanity of the metallo protein hemoglobin A2, a tetramer of alpha- and delta-globin chains, in blood " []	EFO:0005845	"Hemoglobin A2 measurement is a measure of the quanity of the metallo protein hemoglobin A2, a tetramer of alpha- and delta-globin chains, in blood " []	67480	\N	\N	EFO	0	EFO	hemoglobin A2 measurement	hemoglobin A2 measurement
EFO:0004509	EFO:0005845	\N	"Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia." []	EFO:0005845	"Hemoglobin A2 measurement is a measure of the quanity of the metallo protein hemoglobin A2, a tetramer of alpha- and delta-globin chains, in blood " []	209055	\N	\N	EFO	1	EFO	hemoglobin measurement	hemoglobin A2 measurement
EFO:0004503	EFO:0004509	\N	"A measurement quantifying some blood cell, or component." []	EFO:0005845	"Hemoglobin A2 measurement is a measure of the quanity of the metallo protein hemoglobin A2, a tetramer of alpha- and delta-globin chains, in blood " []	562233	\N	\N	EFO	2	EFO	hematological measurement	hemoglobin A2 measurement
EFO:0004747	EFO:0004509	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005845	"Hemoglobin A2 measurement is a measure of the quanity of the metallo protein hemoglobin A2, a tetramer of alpha- and delta-globin chains, in blood " []	562234	\N	\N	EFO	2	EFO	protein measurement	hemoglobin A2 measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005845	"Hemoglobin A2 measurement is a measure of the quanity of the metallo protein hemoglobin A2, a tetramer of alpha- and delta-globin chains, in blood " []	1143793	\N	\N	EFO	3	EFO	measurement	hemoglobin A2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005845	"Hemoglobin A2 measurement is a measure of the quanity of the metallo protein hemoglobin A2, a tetramer of alpha- and delta-globin chains, in blood " []	1143794	\N	\N	EFO	3	EFO	measurement	hemoglobin A2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005845	"Hemoglobin A2 measurement is a measure of the quanity of the metallo protein hemoglobin A2, a tetramer of alpha- and delta-globin chains, in blood " []	2026429	\N	\N	EFO	4	EFO	information entity	hemoglobin A2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005845	"Hemoglobin A2 measurement is a measure of the quanity of the metallo protein hemoglobin A2, a tetramer of alpha- and delta-globin chains, in blood " []	3178585	\N	\N	EFO	5	EFO	experimental factor	hemoglobin A2 measurement
EFO:0005846	\N	\N	"A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004" []	EFO:0005846	"A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004" []	67481	\N	\N	EFO	0	EFO	cryoglobulinemia	cryoglobulinemia
EFO:0005140	EFO:0005846	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005846	"A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004" []	209056	\N	\N	EFO	1	EFO	autoimmune disease	cryoglobulinemia
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005846	"A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004" []	562235	\N	\N	EFO	2	EFO	immune system disease	cryoglobulinemia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005846	"A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004" []	1143795	\N	\N	EFO	3	EFO	disease	cryoglobulinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005846	"A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004" []	2026430	\N	\N	EFO	4	EFO	disposition	cryoglobulinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005846	"A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004" []	3178586	\N	\N	EFO	5	EFO	material property	cryoglobulinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005846	"A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004" []	4388314	\N	\N	EFO	6	EFO	experimental factor	cryoglobulinemia
EFO:0005847	\N	\N	"An increase in the probability of an event occuring, as compared to a background risk such as the normal risk in a given population. For intsance, the increased risk of getting breast cancer given a Brca1 mutation." []	EFO:0005847	"An increase in the probability of an event occuring, as compared to a background risk such as the normal risk in a given population. For intsance, the increased risk of getting breast cancer given a Brca1 mutation." []	67482	\N	\N	EFO	0	EFO	increased risk	increased risk
EFO:0003919	EFO:0005847	\N	"Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury." []	EFO:0005847	"An increase in the probability of an event occuring, as compared to a background risk such as the normal risk in a given population. For intsance, the increased risk of getting breast cancer given a Brca1 mutation." []	209057	\N	\N	EFO	1	EFO	risk factor	increased risk
BFO:0000016	EFO:0003919	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005847	"An increase in the probability of an event occuring, as compared to a background risk such as the normal risk in a given population. For intsance, the increased risk of getting breast cancer given a Brca1 mutation." []	562236	\N	\N	EFO	2	EFO	disposition	increased risk
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005847	"An increase in the probability of an event occuring, as compared to a background risk such as the normal risk in a given population. For intsance, the increased risk of getting breast cancer given a Brca1 mutation." []	1143796	\N	\N	EFO	3	EFO	material property	increased risk
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005847	"An increase in the probability of an event occuring, as compared to a background risk such as the normal risk in a given population. For intsance, the increased risk of getting breast cancer given a Brca1 mutation." []	2026431	\N	\N	EFO	4	EFO	experimental factor	increased risk
EFO:0005849	\N	\N	"quantification of some lipase activity in blood. It is used as a diagnostic test for pancreatitis, pancreatic cancer  and and in the diagnosis and monitoring of coelic disease, Chrohn's disease and cystic fibrosis." []	EFO:0005849	"quantification of some lipase activity in blood. It is used as a diagnostic test for pancreatitis, pancreatic cancer  and and in the diagnosis and monitoring of coelic disease, Chrohn's disease and cystic fibrosis." []	67483	\N	\N	EFO	0	EFO	serum lipase activity measurement	serum lipase activity measurement
EFO:0001444	EFO:0005849	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005849	"quantification of some lipase activity in blood. It is used as a diagnostic test for pancreatitis, pancreatic cancer  and and in the diagnosis and monitoring of coelic disease, Chrohn's disease and cystic fibrosis." []	209058	\N	\N	EFO	1	EFO	measurement	serum lipase activity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005849	"quantification of some lipase activity in blood. It is used as a diagnostic test for pancreatitis, pancreatic cancer  and and in the diagnosis and monitoring of coelic disease, Chrohn's disease and cystic fibrosis." []	562237	\N	\N	EFO	2	EFO	information entity	serum lipase activity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005849	"quantification of some lipase activity in blood. It is used as a diagnostic test for pancreatitis, pancreatic cancer  and and in the diagnosis and monitoring of coelic disease, Chrohn's disease and cystic fibrosis." []	1143797	\N	\N	EFO	3	EFO	experimental factor	serum lipase activity measurement
EFO:0005850	\N	\N	"quantification by computed tomography scans of distinct pathologic patterns in the lungs that occur in emphysema" []	EFO:0005850	"quantification by computed tomography scans of distinct pathologic patterns in the lungs that occur in emphysema" []	67484	\N	\N	EFO	0	EFO	emphysema pattern measurement	emphysema pattern measurement
EFO:0007626	EFO:0005850	\N	"Quantification of some aspect, eg the presence/absence or severity of emphysema through the use of imaging techniques such as CT scans" []	EFO:0005850	"quantification by computed tomography scans of distinct pathologic patterns in the lungs that occur in emphysema" []	209059	\N	\N	EFO	1	EFO	emphysema imaging measurement	emphysema pattern measurement
EFO:0007627	EFO:0007626	\N	"Quantification of the size of or level of damage to a person's airways using medical imaging techniques such as CT scans. This approach is used in the diagnosis and assessment of respiratory disorders such as COPD and emphysema" []	EFO:0005850	"quantification by computed tomography scans of distinct pathologic patterns in the lungs that occur in emphysema" []	562238	\N	\N	EFO	2	EFO	airway imaging measurement	emphysema pattern measurement
EFO:0006841	EFO:0007627	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0005850	"quantification by computed tomography scans of distinct pathologic patterns in the lungs that occur in emphysema" []	1143798	\N	\N	EFO	3	EFO	respiratory disease biomarker	emphysema pattern measurement
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005850	"quantification by computed tomography scans of distinct pathologic patterns in the lungs that occur in emphysema" []	2026432	\N	\N	EFO	4	EFO	measurement	emphysema pattern measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005850	"quantification by computed tomography scans of distinct pathologic patterns in the lungs that occur in emphysema" []	3178587	\N	\N	EFO	5	EFO	information entity	emphysema pattern measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005850	"quantification by computed tomography scans of distinct pathologic patterns in the lungs that occur in emphysema" []	4388315	\N	\N	EFO	6	EFO	experimental factor	emphysema pattern measurement
EFO:0005851	\N	\N	"height-adjusted version of BMI calculated as BMI[x]?=?weight(kg)/height(m)^x), where x is derived to give the lowest Pearson's correlation coefficient of BMI[x] with height within a study cohort" []	EFO:0005851	"height-adjusted version of BMI calculated as BMI[x]?=?weight(kg)/height(m)^x), where x is derived to give the lowest Pearson's correlation coefficient of BMI[x] with height within a study cohort" []	67485	\N	\N	EFO	0	EFO	height-adjusted body mass index	height-adjusted body mass index
EFO:0004340	EFO:0005851	\N	"An indicator of body density as determined by the relationship of BODY WEIGHTtoBODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" []	EFO:0005851	"height-adjusted version of BMI calculated as BMI[x]?=?weight(kg)/height(m)^x), where x is derived to give the lowest Pearson's correlation coefficient of BMI[x] with height within a study cohort" []	209060	\N	\N	EFO	1	EFO	body mass index	height-adjusted body mass index
EFO:0004324	EFO:0004340	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0005851	"height-adjusted version of BMI calculated as BMI[x]?=?weight(kg)/height(m)^x), where x is derived to give the lowest Pearson's correlation coefficient of BMI[x] with height within a study cohort" []	562239	\N	\N	EFO	2	EFO	body weights and measures	height-adjusted body mass index
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0005851	"height-adjusted version of BMI calculated as BMI[x]?=?weight(kg)/height(m)^x), where x is derived to give the lowest Pearson's correlation coefficient of BMI[x] with height within a study cohort" []	1143799	\N	\N	EFO	3	EFO	anthropometric measurement	height-adjusted body mass index
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005851	"height-adjusted version of BMI calculated as BMI[x]?=?weight(kg)/height(m)^x), where x is derived to give the lowest Pearson's correlation coefficient of BMI[x] with height within a study cohort" []	2026433	\N	\N	EFO	4	EFO	measurement	height-adjusted body mass index
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005851	"height-adjusted version of BMI calculated as BMI[x]?=?weight(kg)/height(m)^x), where x is derived to give the lowest Pearson's correlation coefficient of BMI[x] with height within a study cohort" []	3178588	\N	\N	EFO	5	EFO	information entity	height-adjusted body mass index
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005851	"height-adjusted version of BMI calculated as BMI[x]?=?weight(kg)/height(m)^x), where x is derived to give the lowest Pearson's correlation coefficient of BMI[x] with height within a study cohort" []	4388316	\N	\N	EFO	6	EFO	experimental factor	height-adjusted body mass index
EFO:0005852	\N	\N	"quantification of the morphology (eg thickness and surface area) of Heschl's gyrus, a core region of the auditory cortex with highly variable morphology" []	EFO:0005852	"quantification of the morphology (eg thickness and surface area) of Heschl's gyrus, a core region of the auditory cortex with highly variable morphology" []	67486	\N	\N	EFO	0	EFO	Heschl's gyrus morphology measurement	Heschl's gyrus morphology measurement
EFO:0004464	EFO:0005852	\N	"" []	EFO:0005852	"quantification of the morphology (eg thickness and surface area) of Heschl's gyrus, a core region of the auditory cortex with highly variable morphology" []	209061	\N	\N	EFO	1	EFO	brain measurement	Heschl's gyrus morphology measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005852	"quantification of the morphology (eg thickness and surface area) of Heschl's gyrus, a core region of the auditory cortex with highly variable morphology" []	562240	\N	\N	EFO	2	EFO	measurement	Heschl's gyrus morphology measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005852	"quantification of the morphology (eg thickness and surface area) of Heschl's gyrus, a core region of the auditory cortex with highly variable morphology" []	1143800	\N	\N	EFO	3	EFO	information entity	Heschl's gyrus morphology measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005852	"quantification of the morphology (eg thickness and surface area) of Heschl's gyrus, a core region of the auditory cortex with highly variable morphology" []	2026434	\N	\N	EFO	4	EFO	experimental factor	Heschl's gyrus morphology measurement
EFO:0005853	\N	\N	"short or long term physiological response of an organism, eg in terms of deposits of silica particles in lung tissues, to exposure to silica, usually of occupational or environment origin" []	EFO:0005853	"short or long term physiological response of an organism, eg in terms of deposits of silica particles in lung tissues, to exposure to silica, usually of occupational or environment origin" []	67487	\N	\N	EFO	0	EFO	response to silica exposure	response to silica exposure
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0005853	"short or long term physiological response of an organism, eg in terms of deposits of silica particles in lung tissues, to exposure to silica, usually of occupational or environment origin" []	194755	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to silica exposure
EFO:0005854	\N	\N	"Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." []	EFO:0005854	"Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." []	67488	\N	\N	EFO	0	EFO	allergic rhinitis	allergic rhinitis
EFO:0003785	EFO:0005854	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0005854	"Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." []	209062	\N	\N	EFO	1	EFO	allergy	allergic rhinitis
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005854	"Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." []	562241	\N	\N	EFO	2	EFO	immune system disease	allergic rhinitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005854	"Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." []	1143801	\N	\N	EFO	3	EFO	disease	allergic rhinitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005854	"Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." []	2026435	\N	\N	EFO	4	EFO	disposition	allergic rhinitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005854	"Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." []	3178589	\N	\N	EFO	5	EFO	material property	allergic rhinitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005854	"Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." []	4388317	\N	\N	EFO	6	EFO	experimental factor	allergic rhinitis
EFO:0005855	\N	\N	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias). People who have narcolepsy without cataplexy have sleepiness but no emotionally triggered muscle weakness, and generally have less severe symptoms. " []	EFO:0005855	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias). People who have narcolepsy without cataplexy have sleepiness but no emotionally triggered muscle weakness, and generally have less severe symptoms. " []	67489	\N	\N	EFO	0	EFO	narcolepsy without cataplexy	narcolepsy without cataplexy
EFO:0005774	EFO:0005855	\N	"A disease affecting the brain or part of the brain." []	EFO:0005855	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias). People who have narcolepsy without cataplexy have sleepiness but no emotionally triggered muscle weakness, and generally have less severe symptoms. " []	209063	\N	\N	EFO	1	EFO	brain disease	narcolepsy without cataplexy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005855	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias). People who have narcolepsy without cataplexy have sleepiness but no emotionally triggered muscle weakness, and generally have less severe symptoms. " []	562242	\N	\N	EFO	2	EFO	nervous system disease	narcolepsy without cataplexy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005855	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias). People who have narcolepsy without cataplexy have sleepiness but no emotionally triggered muscle weakness, and generally have less severe symptoms. " []	1143802	\N	\N	EFO	3	EFO	disease	narcolepsy without cataplexy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005855	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias). People who have narcolepsy without cataplexy have sleepiness but no emotionally triggered muscle weakness, and generally have less severe symptoms. " []	2026436	\N	\N	EFO	4	EFO	disposition	narcolepsy without cataplexy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005855	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias). People who have narcolepsy without cataplexy have sleepiness but no emotionally triggered muscle weakness, and generally have less severe symptoms. " []	3178590	\N	\N	EFO	5	EFO	material property	narcolepsy without cataplexy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005855	"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias). People who have narcolepsy without cataplexy have sleepiness but no emotionally triggered muscle weakness, and generally have less severe symptoms. " []	4388318	\N	\N	EFO	6	EFO	experimental factor	narcolepsy without cataplexy
EFO:0005856	\N	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:0005856	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	67490	\N	\N	EFO	0	EFO	arthritis	arthritis
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0005856	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	209064	\N	\N	EFO	1	EFO	autoimmune disease	arthritis
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0005856	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	209065	\N	\N	EFO	1	EFO	rheumatic disease	arthritis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0005856	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	562243	\N	\N	EFO	2	EFO	immune system disease	arthritis
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0005856	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	562244	\N	\N	EFO	2	EFO	skeletal system disease	arthritis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005856	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	1143803	\N	\N	EFO	3	EFO	disease	arthritis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005856	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	1143804	\N	\N	EFO	3	EFO	disease	arthritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005856	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	2026437	\N	\N	EFO	4	EFO	disposition	arthritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005856	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	3178591	\N	\N	EFO	5	EFO	material property	arthritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005856	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	4388319	\N	\N	EFO	6	EFO	experimental factor	arthritis
EFO:0005857	\N	\N	"An embryo stage for the mouse species." []	EFO:0005857	"An embryo stage for the mouse species." []	67491	\N	\N	EFO	0	EFO	mouse embryo stage	mouse embryo stage
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005857	"An embryo stage for the mouse species." []	209066	\N	\N	EFO	1	EFO	embryo stage	mouse embryo stage
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005857	"An embryo stage for the mouse species." []	562245	\N	\N	EFO	2	EFO	developmental stage	mouse embryo stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005857	"An embryo stage for the mouse species." []	1143805	\N	\N	EFO	3	EFO	process	mouse embryo stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005857	"An embryo stage for the mouse species." []	2026438	\N	\N	EFO	4	EFO	experimental factor	mouse embryo stage
EFO:0005858	\N	\N	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	EFO:0005858	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	67492	\N	\N	EFO	0	EFO	C. elegans embryo stage	C. elegans embryo stage
EFO:0007725	EFO:0005858	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005858	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	209067	\N	\N	EFO	1	EFO	embryo stage	C. elegans embryo stage
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005858	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	562246	\N	\N	EFO	2	EFO	developmental stage	C. elegans embryo stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005858	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	1143806	\N	\N	EFO	3	EFO	process	C. elegans embryo stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005858	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	2026439	\N	\N	EFO	4	EFO	experimental factor	C. elegans embryo stage
EFO:0005859	\N	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005859	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	67493	\N	\N	EFO	0	EFO	Drosophila embryo stage	Drosophila embryo stage
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005859	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	209068	\N	\N	EFO	1	EFO	embryo stage	Drosophila embryo stage
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005859	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	562247	\N	\N	EFO	2	EFO	developmental stage	Drosophila embryo stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005859	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	1143807	\N	\N	EFO	3	EFO	process	Drosophila embryo stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005859	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	2026440	\N	\N	EFO	4	EFO	experimental factor	Drosophila embryo stage
EFO:0005860	\N	\N	"The embryonic stage that lasts from the end of fertilization to the end of the second nuclear division. Duration at 25 degrees C\\\\: approximately 25 minutes (0-25 minutes after egg laying)." []	EFO:0005860	"The embryonic stage that lasts from the end of fertilization to the end of the second nuclear division. Duration at 25 degrees C\\\\: approximately 25 minutes (0-25 minutes after egg laying)." []	67494	\N	\N	EFO	0	EFO	embryonic stage 1	embryonic stage 1
EFO:0005859	EFO:0005860	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005860	"The embryonic stage that lasts from the end of fertilization to the end of the second nuclear division. Duration at 25 degrees C\\\\: approximately 25 minutes (0-25 minutes after egg laying)." []	209069	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 1
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005860	"The embryonic stage that lasts from the end of fertilization to the end of the second nuclear division. Duration at 25 degrees C\\\\: approximately 25 minutes (0-25 minutes after egg laying)." []	562248	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 1
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005860	"The embryonic stage that lasts from the end of fertilization to the end of the second nuclear division. Duration at 25 degrees C\\\\: approximately 25 minutes (0-25 minutes after egg laying)." []	1143808	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 1
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005860	"The embryonic stage that lasts from the end of fertilization to the end of the second nuclear division. Duration at 25 degrees C\\\\: approximately 25 minutes (0-25 minutes after egg laying)." []	2026441	\N	\N	EFO	4	EFO	process	embryonic stage 1
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005860	"The embryonic stage that lasts from the end of fertilization to the end of the second nuclear division. Duration at 25 degrees C\\\\: approximately 25 minutes (0-25 minutes after egg laying)." []	3178592	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 1
EFO:0005861	\N	\N	"Nuclear divisions 3-8. The egg cytoplasm contracts producing a clear separation from the vitelline membrane and empty spaces at the anterior and posterior. The cleavage nuclei migrate towards the periphery. Duration at 25 degrees C approximately 40 minutes (25-65 minutes AEL). Temporal ordering number - 70." []	EFO:0005861	"Nuclear divisions 3-8. The egg cytoplasm contracts producing a clear separation from the vitelline membrane and empty spaces at the anterior and posterior. The cleavage nuclei migrate towards the periphery. Duration at 25 degrees C approximately 40 minutes (25-65 minutes AEL). Temporal ordering number - 70." []	67495	\N	\N	EFO	0	EFO	embryonic stage 2	embryonic stage 2
EFO:0005859	EFO:0005861	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005861	"Nuclear divisions 3-8. The egg cytoplasm contracts producing a clear separation from the vitelline membrane and empty spaces at the anterior and posterior. The cleavage nuclei migrate towards the periphery. Duration at 25 degrees C approximately 40 minutes (25-65 minutes AEL). Temporal ordering number - 70." []	209070	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 2
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005861	"Nuclear divisions 3-8. The egg cytoplasm contracts producing a clear separation from the vitelline membrane and empty spaces at the anterior and posterior. The cleavage nuclei migrate towards the periphery. Duration at 25 degrees C approximately 40 minutes (25-65 minutes AEL). Temporal ordering number - 70." []	562249	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 2
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005861	"Nuclear divisions 3-8. The egg cytoplasm contracts producing a clear separation from the vitelline membrane and empty spaces at the anterior and posterior. The cleavage nuclei migrate towards the periphery. Duration at 25 degrees C approximately 40 minutes (25-65 minutes AEL). Temporal ordering number - 70." []	1143809	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 2
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005861	"Nuclear divisions 3-8. The egg cytoplasm contracts producing a clear separation from the vitelline membrane and empty spaces at the anterior and posterior. The cleavage nuclei migrate towards the periphery. Duration at 25 degrees C approximately 40 minutes (25-65 minutes AEL). Temporal ordering number - 70." []	2026442	\N	\N	EFO	4	EFO	process	embryonic stage 2
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005861	"Nuclear divisions 3-8. The egg cytoplasm contracts producing a clear separation from the vitelline membrane and empty spaces at the anterior and posterior. The cleavage nuclei migrate towards the periphery. Duration at 25 degrees C approximately 40 minutes (25-65 minutes AEL). Temporal ordering number - 70." []	3178593	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 2
EFO:0005862	\N	\N	"Nuclear division 9. The cleavage nuclei complete their migration to the periphery. Polar buds form at the posterior pole and divide once. Duration at 25 degrees C: approximately 15 minutes (65-80 minutes after egg laying)." []	EFO:0005862	"Nuclear division 9. The cleavage nuclei complete their migration to the periphery. Polar buds form at the posterior pole and divide once. Duration at 25 degrees C: approximately 15 minutes (65-80 minutes after egg laying)." []	67496	\N	\N	EFO	0	EFO	embryonic stage 3	embryonic stage 3
EFO:0005859	EFO:0005862	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005862	"Nuclear division 9. The cleavage nuclei complete their migration to the periphery. Polar buds form at the posterior pole and divide once. Duration at 25 degrees C: approximately 15 minutes (65-80 minutes after egg laying)." []	209071	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 3
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005862	"Nuclear division 9. The cleavage nuclei complete their migration to the periphery. Polar buds form at the posterior pole and divide once. Duration at 25 degrees C: approximately 15 minutes (65-80 minutes after egg laying)." []	562250	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 3
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005862	"Nuclear division 9. The cleavage nuclei complete their migration to the periphery. Polar buds form at the posterior pole and divide once. Duration at 25 degrees C: approximately 15 minutes (65-80 minutes after egg laying)." []	1143810	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 3
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005862	"Nuclear division 9. The cleavage nuclei complete their migration to the periphery. Polar buds form at the posterior pole and divide once. Duration at 25 degrees C: approximately 15 minutes (65-80 minutes after egg laying)." []	2026443	\N	\N	EFO	4	EFO	process	embryonic stage 3
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005862	"Nuclear division 9. The cleavage nuclei complete their migration to the periphery. Polar buds form at the posterior pole and divide once. Duration at 25 degrees C: approximately 15 minutes (65-80 minutes after egg laying)." []	3178594	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 3
EFO:0005863	\N	\N	"Nuclear division 10-13. Polar buds divide twice and become tightly grouped at the posterior pole by the end of this stage. Nuclei visible at the rim of the embryo. Stage 4 ends with the beginning of cellularization. Duration at 25 degrees C: approx. 50 minutes (80-130 minutes after egg laying)." []	EFO:0005863	"Nuclear division 10-13. Polar buds divide twice and become tightly grouped at the posterior pole by the end of this stage. Nuclei visible at the rim of the embryo. Stage 4 ends with the beginning of cellularization. Duration at 25 degrees C: approx. 50 minutes (80-130 minutes after egg laying)." []	67497	\N	\N	EFO	0	EFO	embryonic stage 4	embryonic stage 4
EFO:0005859	EFO:0005863	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005863	"Nuclear division 10-13. Polar buds divide twice and become tightly grouped at the posterior pole by the end of this stage. Nuclei visible at the rim of the embryo. Stage 4 ends with the beginning of cellularization. Duration at 25 degrees C: approx. 50 minutes (80-130 minutes after egg laying)." []	209072	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 4
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005863	"Nuclear division 10-13. Polar buds divide twice and become tightly grouped at the posterior pole by the end of this stage. Nuclei visible at the rim of the embryo. Stage 4 ends with the beginning of cellularization. Duration at 25 degrees C: approx. 50 minutes (80-130 minutes after egg laying)." []	562251	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 4
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005863	"Nuclear division 10-13. Polar buds divide twice and become tightly grouped at the posterior pole by the end of this stage. Nuclei visible at the rim of the embryo. Stage 4 ends with the beginning of cellularization. Duration at 25 degrees C: approx. 50 minutes (80-130 minutes after egg laying)." []	1143811	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 4
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005863	"Nuclear division 10-13. Polar buds divide twice and become tightly grouped at the posterior pole by the end of this stage. Nuclei visible at the rim of the embryo. Stage 4 ends with the beginning of cellularization. Duration at 25 degrees C: approx. 50 minutes (80-130 minutes after egg laying)." []	2026444	\N	\N	EFO	4	EFO	process	embryonic stage 4
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005863	"Nuclear division 10-13. Polar buds divide twice and become tightly grouped at the posterior pole by the end of this stage. Nuclei visible at the rim of the embryo. Stage 4 ends with the beginning of cellularization. Duration at 25 degrees C: approx. 50 minutes (80-130 minutes after egg laying)." []	3178595	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 4
EFO:0005864	\N	\N	"Cellularization. Stage 5 begins when cellularization starts. Near the end of this stage the pole cells begin to migrate dorsally and ventral midline cells acquire an irregular, wavy appearance. Stage 5 ends when ventral furrow formation becomes apparent. Duration at 25 degrees: approximately 40 minutes (130-170 minutes after egg laying)." []	EFO:0005864	"Cellularization. Stage 5 begins when cellularization starts. Near the end of this stage the pole cells begin to migrate dorsally and ventral midline cells acquire an irregular, wavy appearance. Stage 5 ends when ventral furrow formation becomes apparent. Duration at 25 degrees: approximately 40 minutes (130-170 minutes after egg laying)." []	67498	\N	\N	EFO	0	EFO	embryonic stage 5	embryonic stage 5
EFO:0005859	EFO:0005864	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005864	"Cellularization. Stage 5 begins when cellularization starts. Near the end of this stage the pole cells begin to migrate dorsally and ventral midline cells acquire an irregular, wavy appearance. Stage 5 ends when ventral furrow formation becomes apparent. Duration at 25 degrees: approximately 40 minutes (130-170 minutes after egg laying)." []	209073	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 5
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005864	"Cellularization. Stage 5 begins when cellularization starts. Near the end of this stage the pole cells begin to migrate dorsally and ventral midline cells acquire an irregular, wavy appearance. Stage 5 ends when ventral furrow formation becomes apparent. Duration at 25 degrees: approximately 40 minutes (130-170 minutes after egg laying)." []	562252	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 5
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005864	"Cellularization. Stage 5 begins when cellularization starts. Near the end of this stage the pole cells begin to migrate dorsally and ventral midline cells acquire an irregular, wavy appearance. Stage 5 ends when ventral furrow formation becomes apparent. Duration at 25 degrees: approximately 40 minutes (130-170 minutes after egg laying)." []	1143812	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 5
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005864	"Cellularization. Stage 5 begins when cellularization starts. Near the end of this stage the pole cells begin to migrate dorsally and ventral midline cells acquire an irregular, wavy appearance. Stage 5 ends when ventral furrow formation becomes apparent. Duration at 25 degrees: approximately 40 minutes (130-170 minutes after egg laying)." []	2026445	\N	\N	EFO	4	EFO	process	embryonic stage 5
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005864	"Cellularization. Stage 5 begins when cellularization starts. Near the end of this stage the pole cells begin to migrate dorsally and ventral midline cells acquire an irregular, wavy appearance. Stage 5 ends when ventral furrow formation becomes apparent. Duration at 25 degrees: approximately 40 minutes (130-170 minutes after egg laying)." []	3178596	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 5
EFO:0005865	\N	\N	"Stage 6 begins when the ventral furrow becomes apparent, an event which is followed rapidly by the formation of the cephalic furrow. Stage 6 ends when the pole cells have adopted a dorsal (horizontal) position at the posterior. Duration at 25 degrees C: approximately 10 minutes (170-180 minutes after egg laying)." []	EFO:0005865	"Stage 6 begins when the ventral furrow becomes apparent, an event which is followed rapidly by the formation of the cephalic furrow. Stage 6 ends when the pole cells have adopted a dorsal (horizontal) position at the posterior. Duration at 25 degrees C: approximately 10 minutes (170-180 minutes after egg laying)." []	67499	\N	\N	EFO	0	EFO	embryonic stage 6	embryonic stage 6
EFO:0005859	EFO:0005865	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005865	"Stage 6 begins when the ventral furrow becomes apparent, an event which is followed rapidly by the formation of the cephalic furrow. Stage 6 ends when the pole cells have adopted a dorsal (horizontal) position at the posterior. Duration at 25 degrees C: approximately 10 minutes (170-180 minutes after egg laying)." []	209074	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 6
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005865	"Stage 6 begins when the ventral furrow becomes apparent, an event which is followed rapidly by the formation of the cephalic furrow. Stage 6 ends when the pole cells have adopted a dorsal (horizontal) position at the posterior. Duration at 25 degrees C: approximately 10 minutes (170-180 minutes after egg laying)." []	562253	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 6
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005865	"Stage 6 begins when the ventral furrow becomes apparent, an event which is followed rapidly by the formation of the cephalic furrow. Stage 6 ends when the pole cells have adopted a dorsal (horizontal) position at the posterior. Duration at 25 degrees C: approximately 10 minutes (170-180 minutes after egg laying)." []	1143813	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 6
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005865	"Stage 6 begins when the ventral furrow becomes apparent, an event which is followed rapidly by the formation of the cephalic furrow. Stage 6 ends when the pole cells have adopted a dorsal (horizontal) position at the posterior. Duration at 25 degrees C: approximately 10 minutes (170-180 minutes after egg laying)." []	2026446	\N	\N	EFO	4	EFO	process	embryonic stage 6
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005865	"Stage 6 begins when the ventral furrow becomes apparent, an event which is followed rapidly by the formation of the cephalic furrow. Stage 6 ends when the pole cells have adopted a dorsal (horizontal) position at the posterior. Duration at 25 degrees C: approximately 10 minutes (170-180 minutes after egg laying)." []	3178597	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 6
EFO:0005866	\N	\N	"Stage 7 begins when the pole cells have adopted a dorsal (horizontal) position at the posterior. Invagination of the anterior and posterior midgut and hindgut follows. The 'discoid plate' that carries the pole cells forms a pocket. Transverse furrows (dorsal folds) form on the dorsal surface. This stage ends when the anterior wall of the amnioproctodeal invagination starts moving anteriorly and the pole cells are no longer visible externally. Duration at 25 degrees C: approximately 10 minutes (180-190 minutes after egg laying)." []	EFO:0005866	"Stage 7 begins when the pole cells have adopted a dorsal (horizontal) position at the posterior. Invagination of the anterior and posterior midgut and hindgut follows. The 'discoid plate' that carries the pole cells forms a pocket. Transverse furrows (dorsal folds) form on the dorsal surface. This stage ends when the anterior wall of the amnioproctodeal invagination starts moving anteriorly and the pole cells are no longer visible externally. Duration at 25 degrees C: approximately 10 minutes (180-190 minutes after egg laying)." []	67500	\N	\N	EFO	0	EFO	embryonic stage 7	embryonic stage 7
EFO:0005859	EFO:0005866	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005866	"Stage 7 begins when the pole cells have adopted a dorsal (horizontal) position at the posterior. Invagination of the anterior and posterior midgut and hindgut follows. The 'discoid plate' that carries the pole cells forms a pocket. Transverse furrows (dorsal folds) form on the dorsal surface. This stage ends when the anterior wall of the amnioproctodeal invagination starts moving anteriorly and the pole cells are no longer visible externally. Duration at 25 degrees C: approximately 10 minutes (180-190 minutes after egg laying)." []	209075	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 7
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005866	"Stage 7 begins when the pole cells have adopted a dorsal (horizontal) position at the posterior. Invagination of the anterior and posterior midgut and hindgut follows. The 'discoid plate' that carries the pole cells forms a pocket. Transverse furrows (dorsal folds) form on the dorsal surface. This stage ends when the anterior wall of the amnioproctodeal invagination starts moving anteriorly and the pole cells are no longer visible externally. Duration at 25 degrees C: approximately 10 minutes (180-190 minutes after egg laying)." []	562254	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 7
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005866	"Stage 7 begins when the pole cells have adopted a dorsal (horizontal) position at the posterior. Invagination of the anterior and posterior midgut and hindgut follows. The 'discoid plate' that carries the pole cells forms a pocket. Transverse furrows (dorsal folds) form on the dorsal surface. This stage ends when the anterior wall of the amnioproctodeal invagination starts moving anteriorly and the pole cells are no longer visible externally. Duration at 25 degrees C: approximately 10 minutes (180-190 minutes after egg laying)." []	1143814	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 7
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005866	"Stage 7 begins when the pole cells have adopted a dorsal (horizontal) position at the posterior. Invagination of the anterior and posterior midgut and hindgut follows. The 'discoid plate' that carries the pole cells forms a pocket. Transverse furrows (dorsal folds) form on the dorsal surface. This stage ends when the anterior wall of the amnioproctodeal invagination starts moving anteriorly and the pole cells are no longer visible externally. Duration at 25 degrees C: approximately 10 minutes (180-190 minutes after egg laying)." []	2026447	\N	\N	EFO	4	EFO	process	embryonic stage 7
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005866	"Stage 7 begins when the pole cells have adopted a dorsal (horizontal) position at the posterior. Invagination of the anterior and posterior midgut and hindgut follows. The 'discoid plate' that carries the pole cells forms a pocket. Transverse furrows (dorsal folds) form on the dorsal surface. This stage ends when the anterior wall of the amnioproctodeal invagination starts moving anteriorly and the pole cells are no longer visible externally. Duration at 25 degrees C: approximately 10 minutes (180-190 minutes after egg laying)." []	3178598	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 7
EFO:0005868	\N	\N	"Stage 8 starts with the rapid phase of germ band extension and ends with the beginning of mesodermal segmentation. By the end of this stage germ band extension has progressed to the point where the proctodeal opening is at about 60% egg length and the dorsal folds (transverse furrows) are no longer visible. Duration at 25 degrees C: approximately 30 minutes (190-220 minutes after egg laying)." []	EFO:0005868	"Stage 8 starts with the rapid phase of germ band extension and ends with the beginning of mesodermal segmentation. By the end of this stage germ band extension has progressed to the point where the proctodeal opening is at about 60% egg length and the dorsal folds (transverse furrows) are no longer visible. Duration at 25 degrees C: approximately 30 minutes (190-220 minutes after egg laying)." []	67501	\N	\N	EFO	0	EFO	embryonic stage 8	embryonic stage 8
EFO:0005859	EFO:0005868	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005868	"Stage 8 starts with the rapid phase of germ band extension and ends with the beginning of mesodermal segmentation. By the end of this stage germ band extension has progressed to the point where the proctodeal opening is at about 60% egg length and the dorsal folds (transverse furrows) are no longer visible. Duration at 25 degrees C: approximately 30 minutes (190-220 minutes after egg laying)." []	209076	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 8
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005868	"Stage 8 starts with the rapid phase of germ band extension and ends with the beginning of mesodermal segmentation. By the end of this stage germ band extension has progressed to the point where the proctodeal opening is at about 60% egg length and the dorsal folds (transverse furrows) are no longer visible. Duration at 25 degrees C: approximately 30 minutes (190-220 minutes after egg laying)." []	562255	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 8
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005868	"Stage 8 starts with the rapid phase of germ band extension and ends with the beginning of mesodermal segmentation. By the end of this stage germ band extension has progressed to the point where the proctodeal opening is at about 60% egg length and the dorsal folds (transverse furrows) are no longer visible. Duration at 25 degrees C: approximately 30 minutes (190-220 minutes after egg laying)." []	1143815	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 8
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005868	"Stage 8 starts with the rapid phase of germ band extension and ends with the beginning of mesodermal segmentation. By the end of this stage germ band extension has progressed to the point where the proctodeal opening is at about 60% egg length and the dorsal folds (transverse furrows) are no longer visible. Duration at 25 degrees C: approximately 30 minutes (190-220 minutes after egg laying)." []	2026448	\N	\N	EFO	4	EFO	process	embryonic stage 8
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005868	"Stage 8 starts with the rapid phase of germ band extension and ends with the beginning of mesodermal segmentation. By the end of this stage germ band extension has progressed to the point where the proctodeal opening is at about 60% egg length and the dorsal folds (transverse furrows) are no longer visible. Duration at 25 degrees C: approximately 30 minutes (190-220 minutes after egg laying)." []	3178599	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 8
EFO:0005869	\N	\N	"Stage 9 begins when mesodermal segmentation becomes (transiently) visible\\\\, and ends with the appearance of the stomodeal invagination slightly ventral to the anterior pole. Duration at 25 degrees C: approximately 40 minutes (220-260 minutes after egg laying)." []	EFO:0005869	"Stage 9 begins when mesodermal segmentation becomes (transiently) visible\\\\, and ends with the appearance of the stomodeal invagination slightly ventral to the anterior pole. Duration at 25 degrees C: approximately 40 minutes (220-260 minutes after egg laying)." []	67502	\N	\N	EFO	0	EFO	embryonic stage 9	embryonic stage 9
EFO:0005859	EFO:0005869	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005869	"Stage 9 begins when mesodermal segmentation becomes (transiently) visible\\\\, and ends with the appearance of the stomodeal invagination slightly ventral to the anterior pole. Duration at 25 degrees C: approximately 40 minutes (220-260 minutes after egg laying)." []	209077	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 9
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005869	"Stage 9 begins when mesodermal segmentation becomes (transiently) visible\\\\, and ends with the appearance of the stomodeal invagination slightly ventral to the anterior pole. Duration at 25 degrees C: approximately 40 minutes (220-260 minutes after egg laying)." []	562256	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 9
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005869	"Stage 9 begins when mesodermal segmentation becomes (transiently) visible\\\\, and ends with the appearance of the stomodeal invagination slightly ventral to the anterior pole. Duration at 25 degrees C: approximately 40 minutes (220-260 minutes after egg laying)." []	1143816	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 9
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005869	"Stage 9 begins when mesodermal segmentation becomes (transiently) visible\\\\, and ends with the appearance of the stomodeal invagination slightly ventral to the anterior pole. Duration at 25 degrees C: approximately 40 minutes (220-260 minutes after egg laying)." []	2026449	\N	\N	EFO	4	EFO	process	embryonic stage 9
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005869	"Stage 9 begins when mesodermal segmentation becomes (transiently) visible\\\\, and ends with the appearance of the stomodeal invagination slightly ventral to the anterior pole. Duration at 25 degrees C: approximately 40 minutes (220-260 minutes after egg laying)." []	3178600	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 9
EFO:0005870	\N	\N	"Stage 10 begins with the appearance of the stomodeal invagination, slightly ventral to the anterior pole. Periodic furrows appear in the embryonic epidermis around the middle of the stage. The germ band continues to extend, reaching its maximum extent of 75% egg length towards the end of the stage. The end of the stage is marked by the beginning of invagination of the tracheal placodes. Duration at 25 degrees : approximately 60 minutes (260-320 minutes after egg laying)." []	EFO:0005870	"Stage 10 begins with the appearance of the stomodeal invagination, slightly ventral to the anterior pole. Periodic furrows appear in the embryonic epidermis around the middle of the stage. The germ band continues to extend, reaching its maximum extent of 75% egg length towards the end of the stage. The end of the stage is marked by the beginning of invagination of the tracheal placodes. Duration at 25 degrees : approximately 60 minutes (260-320 minutes after egg laying)." []	67503	\N	\N	EFO	0	EFO	embryonic stage 10	embryonic stage 10
EFO:0005859	EFO:0005870	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005870	"Stage 10 begins with the appearance of the stomodeal invagination, slightly ventral to the anterior pole. Periodic furrows appear in the embryonic epidermis around the middle of the stage. The germ band continues to extend, reaching its maximum extent of 75% egg length towards the end of the stage. The end of the stage is marked by the beginning of invagination of the tracheal placodes. Duration at 25 degrees : approximately 60 minutes (260-320 minutes after egg laying)." []	209078	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 10
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005870	"Stage 10 begins with the appearance of the stomodeal invagination, slightly ventral to the anterior pole. Periodic furrows appear in the embryonic epidermis around the middle of the stage. The germ band continues to extend, reaching its maximum extent of 75% egg length towards the end of the stage. The end of the stage is marked by the beginning of invagination of the tracheal placodes. Duration at 25 degrees : approximately 60 minutes (260-320 minutes after egg laying)." []	562257	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 10
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005870	"Stage 10 begins with the appearance of the stomodeal invagination, slightly ventral to the anterior pole. Periodic furrows appear in the embryonic epidermis around the middle of the stage. The germ band continues to extend, reaching its maximum extent of 75% egg length towards the end of the stage. The end of the stage is marked by the beginning of invagination of the tracheal placodes. Duration at 25 degrees : approximately 60 minutes (260-320 minutes after egg laying)." []	1143817	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 10
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005870	"Stage 10 begins with the appearance of the stomodeal invagination, slightly ventral to the anterior pole. Periodic furrows appear in the embryonic epidermis around the middle of the stage. The germ band continues to extend, reaching its maximum extent of 75% egg length towards the end of the stage. The end of the stage is marked by the beginning of invagination of the tracheal placodes. Duration at 25 degrees : approximately 60 minutes (260-320 minutes after egg laying)." []	2026450	\N	\N	EFO	4	EFO	process	embryonic stage 10
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005870	"Stage 10 begins with the appearance of the stomodeal invagination, slightly ventral to the anterior pole. Periodic furrows appear in the embryonic epidermis around the middle of the stage. The germ band continues to extend, reaching its maximum extent of 75% egg length towards the end of the stage. The end of the stage is marked by the beginning of invagination of the tracheal placodes. Duration at 25 degrees : approximately 60 minutes (260-320 minutes after egg laying)." []	3178601	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 10
EFO:0005871	\N	\N	"Stage 11 begins with the invagination of the tracheal placodes. Para-segmental furrow form and segment boundary furrows become deep folds. Within the head, gnathal protuberances become apparent. The end of this stage is signaled by the appearance of a distinct cleft at the posterior pole of the embryo, which becomes detached from the vitelline membrane. This marks the beginning of germ-band retraction. Duration at 25 degrees C: approximately 120 minutes (320-440 minutes after egg laying)." []	EFO:0005871	"Stage 11 begins with the invagination of the tracheal placodes. Para-segmental furrow form and segment boundary furrows become deep folds. Within the head, gnathal protuberances become apparent. The end of this stage is signaled by the appearance of a distinct cleft at the posterior pole of the embryo, which becomes detached from the vitelline membrane. This marks the beginning of germ-band retraction. Duration at 25 degrees C: approximately 120 minutes (320-440 minutes after egg laying)." []	67504	\N	\N	EFO	0	EFO	embryonic stage 11	embryonic stage 11
EFO:0005859	EFO:0005871	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005871	"Stage 11 begins with the invagination of the tracheal placodes. Para-segmental furrow form and segment boundary furrows become deep folds. Within the head, gnathal protuberances become apparent. The end of this stage is signaled by the appearance of a distinct cleft at the posterior pole of the embryo, which becomes detached from the vitelline membrane. This marks the beginning of germ-band retraction. Duration at 25 degrees C: approximately 120 minutes (320-440 minutes after egg laying)." []	209079	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 11
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005871	"Stage 11 begins with the invagination of the tracheal placodes. Para-segmental furrow form and segment boundary furrows become deep folds. Within the head, gnathal protuberances become apparent. The end of this stage is signaled by the appearance of a distinct cleft at the posterior pole of the embryo, which becomes detached from the vitelline membrane. This marks the beginning of germ-band retraction. Duration at 25 degrees C: approximately 120 minutes (320-440 minutes after egg laying)." []	562258	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 11
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005871	"Stage 11 begins with the invagination of the tracheal placodes. Para-segmental furrow form and segment boundary furrows become deep folds. Within the head, gnathal protuberances become apparent. The end of this stage is signaled by the appearance of a distinct cleft at the posterior pole of the embryo, which becomes detached from the vitelline membrane. This marks the beginning of germ-band retraction. Duration at 25 degrees C: approximately 120 minutes (320-440 minutes after egg laying)." []	1143818	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 11
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005871	"Stage 11 begins with the invagination of the tracheal placodes. Para-segmental furrow form and segment boundary furrows become deep folds. Within the head, gnathal protuberances become apparent. The end of this stage is signaled by the appearance of a distinct cleft at the posterior pole of the embryo, which becomes detached from the vitelline membrane. This marks the beginning of germ-band retraction. Duration at 25 degrees C: approximately 120 minutes (320-440 minutes after egg laying)." []	2026451	\N	\N	EFO	4	EFO	process	embryonic stage 11
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005871	"Stage 11 begins with the invagination of the tracheal placodes. Para-segmental furrow form and segment boundary furrows become deep folds. Within the head, gnathal protuberances become apparent. The end of this stage is signaled by the appearance of a distinct cleft at the posterior pole of the embryo, which becomes detached from the vitelline membrane. This marks the beginning of germ-band retraction. Duration at 25 degrees C: approximately 120 minutes (320-440 minutes after egg laying)." []	3178602	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 11
EFO:0005872	\N	\N	"Germ band retraction. Stage 12 begins when germ-band retraction starts and ends when this process is complete so that the prospective anal plate occupies the posterior pole. During this stage the posterior and anterior midgut primordia meet and fuse and the tracheal pits fuse to form the tracheal tree. Duration at 25 degrees C: approximately 120 minutes (440-560 minutes after egg laying)." []	EFO:0005872	"Germ band retraction. Stage 12 begins when germ-band retraction starts and ends when this process is complete so that the prospective anal plate occupies the posterior pole. During this stage the posterior and anterior midgut primordia meet and fuse and the tracheal pits fuse to form the tracheal tree. Duration at 25 degrees C: approximately 120 minutes (440-560 minutes after egg laying)." []	67505	\N	\N	EFO	0	EFO	embryonic stage 12	embryonic stage 12
EFO:0005859	EFO:0005872	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005872	"Germ band retraction. Stage 12 begins when germ-band retraction starts and ends when this process is complete so that the prospective anal plate occupies the posterior pole. During this stage the posterior and anterior midgut primordia meet and fuse and the tracheal pits fuse to form the tracheal tree. Duration at 25 degrees C: approximately 120 minutes (440-560 minutes after egg laying)." []	209080	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 12
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005872	"Germ band retraction. Stage 12 begins when germ-band retraction starts and ends when this process is complete so that the prospective anal plate occupies the posterior pole. During this stage the posterior and anterior midgut primordia meet and fuse and the tracheal pits fuse to form the tracheal tree. Duration at 25 degrees C: approximately 120 minutes (440-560 minutes after egg laying)." []	562259	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 12
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005872	"Germ band retraction. Stage 12 begins when germ-band retraction starts and ends when this process is complete so that the prospective anal plate occupies the posterior pole. During this stage the posterior and anterior midgut primordia meet and fuse and the tracheal pits fuse to form the tracheal tree. Duration at 25 degrees C: approximately 120 minutes (440-560 minutes after egg laying)." []	1143819	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 12
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005872	"Germ band retraction. Stage 12 begins when germ-band retraction starts and ends when this process is complete so that the prospective anal plate occupies the posterior pole. During this stage the posterior and anterior midgut primordia meet and fuse and the tracheal pits fuse to form the tracheal tree. Duration at 25 degrees C: approximately 120 minutes (440-560 minutes after egg laying)." []	2026452	\N	\N	EFO	4	EFO	process	embryonic stage 12
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005872	"Germ band retraction. Stage 12 begins when germ-band retraction starts and ends when this process is complete so that the prospective anal plate occupies the posterior pole. During this stage the posterior and anterior midgut primordia meet and fuse and the tracheal pits fuse to form the tracheal tree. Duration at 25 degrees C: approximately 120 minutes (440-560 minutes after egg laying)." []	3178603	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 12
EFO:0005873	\N	\N	"Stage 13 begins at the completion of germ-band retraction, when the prospective anal plate occupy the posterior pole. The dorsal ridge becomes apparent externally; the clypeolabrum retracts, leaving a triangular shaped gap at the anterior pole; the labium moves to the ventral midline. This stage ends when head involution begins. Duration at 25 degrees C: Approximately 60 minutes (560-620 minutes after egg laying)." []	EFO:0005873	"Stage 13 begins at the completion of germ-band retraction, when the prospective anal plate occupy the posterior pole. The dorsal ridge becomes apparent externally; the clypeolabrum retracts, leaving a triangular shaped gap at the anterior pole; the labium moves to the ventral midline. This stage ends when head involution begins. Duration at 25 degrees C: Approximately 60 minutes (560-620 minutes after egg laying)." []	67506	\N	\N	EFO	0	EFO	embryonic stage 13	embryonic stage 13
EFO:0005859	EFO:0005873	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005873	"Stage 13 begins at the completion of germ-band retraction, when the prospective anal plate occupy the posterior pole. The dorsal ridge becomes apparent externally; the clypeolabrum retracts, leaving a triangular shaped gap at the anterior pole; the labium moves to the ventral midline. This stage ends when head involution begins. Duration at 25 degrees C: Approximately 60 minutes (560-620 minutes after egg laying)." []	209081	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 13
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005873	"Stage 13 begins at the completion of germ-band retraction, when the prospective anal plate occupy the posterior pole. The dorsal ridge becomes apparent externally; the clypeolabrum retracts, leaving a triangular shaped gap at the anterior pole; the labium moves to the ventral midline. This stage ends when head involution begins. Duration at 25 degrees C: Approximately 60 minutes (560-620 minutes after egg laying)." []	562260	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 13
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005873	"Stage 13 begins at the completion of germ-band retraction, when the prospective anal plate occupy the posterior pole. The dorsal ridge becomes apparent externally; the clypeolabrum retracts, leaving a triangular shaped gap at the anterior pole; the labium moves to the ventral midline. This stage ends when head involution begins. Duration at 25 degrees C: Approximately 60 minutes (560-620 minutes after egg laying)." []	1143820	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 13
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005873	"Stage 13 begins at the completion of germ-band retraction, when the prospective anal plate occupy the posterior pole. The dorsal ridge becomes apparent externally; the clypeolabrum retracts, leaving a triangular shaped gap at the anterior pole; the labium moves to the ventral midline. This stage ends when head involution begins. Duration at 25 degrees C: Approximately 60 minutes (560-620 minutes after egg laying)." []	2026453	\N	\N	EFO	4	EFO	process	embryonic stage 13
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005873	"Stage 13 begins at the completion of germ-band retraction, when the prospective anal plate occupy the posterior pole. The dorsal ridge becomes apparent externally; the clypeolabrum retracts, leaving a triangular shaped gap at the anterior pole; the labium moves to the ventral midline. This stage ends when head involution begins. Duration at 25 degrees C: Approximately 60 minutes (560-620 minutes after egg laying)." []	3178604	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 13
EFO:0005874	\N	\N	"Stage 14 begins with the initiation of head involution. Closure of the midgut around the yolk and dorsal closure continue. Dorsal closure is 80% complete by the end of this stage. This stage ends with the appearance of the second midgut constriction. Duration at 25 degrees C: approximately 60 minutes (620-680 minutes after egg laying)" []	EFO:0005874	"Stage 14 begins with the initiation of head involution. Closure of the midgut around the yolk and dorsal closure continue. Dorsal closure is 80% complete by the end of this stage. This stage ends with the appearance of the second midgut constriction. Duration at 25 degrees C: approximately 60 minutes (620-680 minutes after egg laying)" []	67507	\N	\N	EFO	0	EFO	embryonic stage 14	embryonic stage 14
EFO:0005859	EFO:0005874	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005874	"Stage 14 begins with the initiation of head involution. Closure of the midgut around the yolk and dorsal closure continue. Dorsal closure is 80% complete by the end of this stage. This stage ends with the appearance of the second midgut constriction. Duration at 25 degrees C: approximately 60 minutes (620-680 minutes after egg laying)" []	209082	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 14
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005874	"Stage 14 begins with the initiation of head involution. Closure of the midgut around the yolk and dorsal closure continue. Dorsal closure is 80% complete by the end of this stage. This stage ends with the appearance of the second midgut constriction. Duration at 25 degrees C: approximately 60 minutes (620-680 minutes after egg laying)" []	562261	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 14
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005874	"Stage 14 begins with the initiation of head involution. Closure of the midgut around the yolk and dorsal closure continue. Dorsal closure is 80% complete by the end of this stage. This stage ends with the appearance of the second midgut constriction. Duration at 25 degrees C: approximately 60 minutes (620-680 minutes after egg laying)" []	1143821	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 14
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005874	"Stage 14 begins with the initiation of head involution. Closure of the midgut around the yolk and dorsal closure continue. Dorsal closure is 80% complete by the end of this stage. This stage ends with the appearance of the second midgut constriction. Duration at 25 degrees C: approximately 60 minutes (620-680 minutes after egg laying)" []	2026454	\N	\N	EFO	4	EFO	process	embryonic stage 14
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005874	"Stage 14 begins with the initiation of head involution. Closure of the midgut around the yolk and dorsal closure continue. Dorsal closure is 80% complete by the end of this stage. This stage ends with the appearance of the second midgut constriction. Duration at 25 degrees C: approximately 60 minutes (620-680 minutes after egg laying)" []	3178605	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 14
EFO:0005875	\N	\N	"Stage 15 begins with the appearance of the second midgut constriction. During this stage the 1st and 3rd midgut constrictions form, dorsal closure is completed, and epidermal segmentation is accomplished. This stage ends when the intersegmental grooves can be distinguished at mid-dorsal level. Duration at 25 degrees C: approximately 100 minutes (680-780 minutes after egg laying)." []	EFO:0005875	"Stage 15 begins with the appearance of the second midgut constriction. During this stage the 1st and 3rd midgut constrictions form, dorsal closure is completed, and epidermal segmentation is accomplished. This stage ends when the intersegmental grooves can be distinguished at mid-dorsal level. Duration at 25 degrees C: approximately 100 minutes (680-780 minutes after egg laying)." []	67508	\N	\N	EFO	0	EFO	embryonic stage 15	embryonic stage 15
EFO:0005859	EFO:0005875	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005875	"Stage 15 begins with the appearance of the second midgut constriction. During this stage the 1st and 3rd midgut constrictions form, dorsal closure is completed, and epidermal segmentation is accomplished. This stage ends when the intersegmental grooves can be distinguished at mid-dorsal level. Duration at 25 degrees C: approximately 100 minutes (680-780 minutes after egg laying)." []	209083	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 15
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005875	"Stage 15 begins with the appearance of the second midgut constriction. During this stage the 1st and 3rd midgut constrictions form, dorsal closure is completed, and epidermal segmentation is accomplished. This stage ends when the intersegmental grooves can be distinguished at mid-dorsal level. Duration at 25 degrees C: approximately 100 minutes (680-780 minutes after egg laying)." []	562262	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 15
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005875	"Stage 15 begins with the appearance of the second midgut constriction. During this stage the 1st and 3rd midgut constrictions form, dorsal closure is completed, and epidermal segmentation is accomplished. This stage ends when the intersegmental grooves can be distinguished at mid-dorsal level. Duration at 25 degrees C: approximately 100 minutes (680-780 minutes after egg laying)." []	1143822	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 15
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005875	"Stage 15 begins with the appearance of the second midgut constriction. During this stage the 1st and 3rd midgut constrictions form, dorsal closure is completed, and epidermal segmentation is accomplished. This stage ends when the intersegmental grooves can be distinguished at mid-dorsal level. Duration at 25 degrees C: approximately 100 minutes (680-780 minutes after egg laying)." []	2026455	\N	\N	EFO	4	EFO	process	embryonic stage 15
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005875	"Stage 15 begins with the appearance of the second midgut constriction. During this stage the 1st and 3rd midgut constrictions form, dorsal closure is completed, and epidermal segmentation is accomplished. This stage ends when the intersegmental grooves can be distinguished at mid-dorsal level. Duration at 25 degrees C: approximately 100 minutes (680-780 minutes after egg laying)." []	3178606	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 15
EFO:0005876	\N	\N	"Stage 16 begins when the intersegmental grooves can be distinguished at mid-dorsal level, and ends when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. During this stage the ventral cord retracts to about 60% egg length. Duration at 25 degrees C: approximately 180 minutes (780-960 minutes after egg laying)." []	EFO:0005876	"Stage 16 begins when the intersegmental grooves can be distinguished at mid-dorsal level, and ends when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. During this stage the ventral cord retracts to about 60% egg length. Duration at 25 degrees C: approximately 180 minutes (780-960 minutes after egg laying)." []	67509	\N	\N	EFO	0	EFO	embryonic stage 16	embryonic stage 16
EFO:0005859	EFO:0005876	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005876	"Stage 16 begins when the intersegmental grooves can be distinguished at mid-dorsal level, and ends when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. During this stage the ventral cord retracts to about 60% egg length. Duration at 25 degrees C: approximately 180 minutes (780-960 minutes after egg laying)." []	209084	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 16
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005876	"Stage 16 begins when the intersegmental grooves can be distinguished at mid-dorsal level, and ends when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. During this stage the ventral cord retracts to about 60% egg length. Duration at 25 degrees C: approximately 180 minutes (780-960 minutes after egg laying)." []	562263	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 16
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005876	"Stage 16 begins when the intersegmental grooves can be distinguished at mid-dorsal level, and ends when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. During this stage the ventral cord retracts to about 60% egg length. Duration at 25 degrees C: approximately 180 minutes (780-960 minutes after egg laying)." []	1143823	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 16
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005876	"Stage 16 begins when the intersegmental grooves can be distinguished at mid-dorsal level, and ends when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. During this stage the ventral cord retracts to about 60% egg length. Duration at 25 degrees C: approximately 180 minutes (780-960 minutes after egg laying)." []	2026456	\N	\N	EFO	4	EFO	process	embryonic stage 16
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005876	"Stage 16 begins when the intersegmental grooves can be distinguished at mid-dorsal level, and ends when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. During this stage the ventral cord retracts to about 60% egg length. Duration at 25 degrees C: approximately 180 minutes (780-960 minutes after egg laying)." []	3178607	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 16
EFO:0005877	\N	\N	"Stage 17 begins when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. It lasts until hatching of the embryo (approximately 24 hours after egg laying), during which time much terminal differentiation occurs, the tracheal tree fills with air, so becoming completely visible, and the ventral cord continues to retract. Duration at 25 degrees C: approximately 8 hours (16-24 hours after egg laying)." []	EFO:0005877	"Stage 17 begins when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. It lasts until hatching of the embryo (approximately 24 hours after egg laying), during which time much terminal differentiation occurs, the tracheal tree fills with air, so becoming completely visible, and the ventral cord continues to retract. Duration at 25 degrees C: approximately 8 hours (16-24 hours after egg laying)." []	67510	\N	\N	EFO	0	EFO	embryonic stage 17	embryonic stage 17
EFO:0005859	EFO:0005877	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	EFO:0005877	"Stage 17 begins when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. It lasts until hatching of the embryo (approximately 24 hours after egg laying), during which time much terminal differentiation occurs, the tracheal tree fills with air, so becoming completely visible, and the ventral cord continues to retract. Duration at 25 degrees C: approximately 8 hours (16-24 hours after egg laying)." []	209085	\N	\N	EFO	1	EFO	Drosophila embryo stage	embryonic stage 17
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0005877	"Stage 17 begins when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. It lasts until hatching of the embryo (approximately 24 hours after egg laying), during which time much terminal differentiation occurs, the tracheal tree fills with air, so becoming completely visible, and the ventral cord continues to retract. Duration at 25 degrees C: approximately 8 hours (16-24 hours after egg laying)." []	562264	\N	\N	EFO	2	EFO	embryo stage	embryonic stage 17
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0005877	"Stage 17 begins when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. It lasts until hatching of the embryo (approximately 24 hours after egg laying), during which time much terminal differentiation occurs, the tracheal tree fills with air, so becoming completely visible, and the ventral cord continues to retract. Duration at 25 degrees C: approximately 8 hours (16-24 hours after egg laying)." []	1143824	\N	\N	EFO	3	EFO	developmental stage	embryonic stage 17
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0005877	"Stage 17 begins when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. It lasts until hatching of the embryo (approximately 24 hours after egg laying), during which time much terminal differentiation occurs, the tracheal tree fills with air, so becoming completely visible, and the ventral cord continues to retract. Duration at 25 degrees C: approximately 8 hours (16-24 hours after egg laying)." []	2026457	\N	\N	EFO	4	EFO	process	embryonic stage 17
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005877	"Stage 17 begins when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. It lasts until hatching of the embryo (approximately 24 hours after egg laying), during which time much terminal differentiation occurs, the tracheal tree fills with air, so becoming completely visible, and the ventral cord continues to retract. Duration at 25 degrees C: approximately 8 hours (16-24 hours after egg laying)." []	3178608	\N	\N	EFO	5	EFO	experimental factor	embryonic stage 17
EFO:0005878	\N	\N	"A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." []	EFO:0005878	"A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." []	67511	\N	\N	EFO	0	EFO	vitamin deficiency	vitamin deficiency
HP:0100508	\N	\N	"An anomaly in the metabolism of a vitamin." [HPO:probinson]	EFO:0005878	"A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." []	194756	\N	\N	EFO	0	EFO	Abnormality of vitamin metabolism	vitamin deficiency
EFO:0005879	\N	\N	"Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell." []	EFO:0005879	"Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell." []	67512	\N	\N	EFO	0	EFO	cholesterol homeostasis	cholesterol homeostasis
EFO:0005880	EFO:0005879	\N	"Any process involved in the maintenance of an internal steady state of lipid within an organism or cell." []	EFO:0005879	"Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell." []	209086	\N	\N	EFO	1	EFO	lipid homeostasis	cholesterol homeostasis
EFO:0005880	\N	\N	"Any process involved in the maintenance of an internal steady state of lipid within an organism or cell." []	EFO:0005880	"Any process involved in the maintenance of an internal steady state of lipid within an organism or cell." []	67513	\N	\N	EFO	0	EFO	lipid homeostasis	lipid homeostasis
GO:0042592	\N	\N	"Any biological process involved in the maintenance of an internal steady state." [GOC:jl, ISBN:0395825172]	EFO:0005880	"Any process involved in the maintenance of an internal steady state of lipid within an organism or cell." []	194757	\N	goslim_agr,goslim_chembl,goslim_generic,goslim_mouse,gosubset_prok	EFO	0	EFO	homeostatic process	lipid homeostasis
EFO:0005881	\N	\N	"Any process involved in the maintenance of an internal steady state of triglyceride within an organism or cell." []	EFO:0005881	"Any process involved in the maintenance of an internal steady state of triglyceride within an organism or cell." []	67514	\N	\N	EFO	0	EFO	triglyceride homeostasis	triglyceride homeostasis
EFO:0005880	EFO:0005881	\N	"Any process involved in the maintenance of an internal steady state of lipid within an organism or cell." []	EFO:0005881	"Any process involved in the maintenance of an internal steady state of triglyceride within an organism or cell." []	209087	\N	\N	EFO	1	EFO	lipid homeostasis	triglyceride homeostasis
EFO:0005882	\N	\N	"Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell." []	EFO:0005882	"Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell." []	67515	\N	\N	EFO	0	EFO	iron ion homeostasis	iron ion homeostasis
GO:0042592	\N	\N	"Any biological process involved in the maintenance of an internal steady state." [GOC:jl, ISBN:0395825172]	EFO:0005882	"Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell." []	194758	\N	goslim_agr,goslim_chembl,goslim_generic,goslim_mouse,gosubset_prok	EFO	0	EFO	homeostatic process	iron ion homeostasis
EFO:0005890	\N	\N	"osteoarthritis biomarkers, such as  serum cartilage oligomeric protein (sCOMP) and urinary C-telopeptide of type II collagen (uCTX-II), are used as indicators for osteoarthritis screening and as predictors for therapeutic responses and prognoses in patients" []	EFO:0005890	"osteoarthritis biomarkers, such as  serum cartilage oligomeric protein (sCOMP) and urinary C-telopeptide of type II collagen (uCTX-II), are used as indicators for osteoarthritis screening and as predictors for therapeutic responses and prognoses in patients" []	67516	\N	\N	EFO	0	EFO	osteoarthritis biomarker measurement	osteoarthritis biomarker measurement
EFO:0006846	EFO:0005890	\N	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	EFO:0005890	"osteoarthritis biomarkers, such as  serum cartilage oligomeric protein (sCOMP) and urinary C-telopeptide of type II collagen (uCTX-II), are used as indicators for osteoarthritis screening and as predictors for therapeutic responses and prognoses in patients" []	209088	\N	\N	EFO	1	EFO	autoimmune disease biomarker	osteoarthritis biomarker measurement
EFO:0001444	EFO:0006846	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005890	"osteoarthritis biomarkers, such as  serum cartilage oligomeric protein (sCOMP) and urinary C-telopeptide of type II collagen (uCTX-II), are used as indicators for osteoarthritis screening and as predictors for therapeutic responses and prognoses in patients" []	562265	\N	\N	EFO	2	EFO	measurement	osteoarthritis biomarker measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005890	"osteoarthritis biomarkers, such as  serum cartilage oligomeric protein (sCOMP) and urinary C-telopeptide of type II collagen (uCTX-II), are used as indicators for osteoarthritis screening and as predictors for therapeutic responses and prognoses in patients" []	1143825	\N	\N	EFO	3	EFO	information entity	osteoarthritis biomarker measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005890	"osteoarthritis biomarkers, such as  serum cartilage oligomeric protein (sCOMP) and urinary C-telopeptide of type II collagen (uCTX-II), are used as indicators for osteoarthritis screening and as predictors for therapeutic responses and prognoses in patients" []	2026458	\N	\N	EFO	4	EFO	experimental factor	osteoarthritis biomarker measurement
EFO:0005895	\N	\N	"A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." []	EFO:0005895	"A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." []	67517	\N	\N	EFO	0	EFO	ossification of the posterior longitudinal ligament of the spine	ossification of the posterior longitudinal ligament of the spine
EFO:0002461	EFO:0005895	\N	"Any disease which affects part of the skeletal system." []	EFO:0005895	"A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." []	209089	\N	\N	EFO	1	EFO	skeletal system disease	ossification of the posterior longitudinal ligament of the spine
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005895	"A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." []	562266	\N	\N	EFO	2	EFO	disease	ossification of the posterior longitudinal ligament of the spine
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005895	"A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." []	1143826	\N	\N	EFO	3	EFO	disposition	ossification of the posterior longitudinal ligament of the spine
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005895	"A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." []	2026459	\N	\N	EFO	4	EFO	material property	ossification of the posterior longitudinal ligament of the spine
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005895	"A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." []	3178609	\N	\N	EFO	5	EFO	experimental factor	ossification of the posterior longitudinal ligament of the spine
EFO:0005900	\N	\N	"" []	EFO:0005900	"" []	67518	\N	\N	EFO	0	EFO	auxin	auxin
CHEBI:37577	EFO:0005900	\N	"A molecular entity consisting of two or more chemical elements." []	EFO:0005900	"" []	209090	\N	\N	EFO	1	EFO	chemical compound	auxin
CHEBI:24431	CHEBI:37577	\N	"" []	EFO:0005900	"" []	562267	\N	\N	EFO	2	EFO	chemical entity	auxin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005900	"" []	1143827	\N	\N	EFO	3	EFO	material entity	auxin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005900	"" []	2026460	\N	\N	EFO	4	EFO	experimental factor	auxin
EFO:0005901	\N	\N	"Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA." []	EFO:0005901	"Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA." []	67519	\N	\N	EFO	0	EFO	ELF-1	ELF-1
EFO:0002888	EFO:0005901	\N	"" []	EFO:0005901	"Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA." []	209091	\N	\N	EFO	1	EFO	Homo sapiens cell line	ELF-1
EFO:0002926	EFO:0005901	\N	"" []	EFO:0005901	"Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA." []	209092	\N	\N	EFO	1	EFO	ENCODE cell line	ELF-1
EFO:0003040	EFO:0005901	\N	"" []	EFO:0005901	"Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA." []	209093	\N	\N	EFO	1	EFO	embryonic cell line	ELF-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005901	"Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA." []	562268	\N	\N	EFO	2	EFO	cell line	ELF-1
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005901	"Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA." []	562269	\N	\N	EFO	2	EFO	cell line	ELF-1
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005901	"Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA." []	562270	\N	\N	EFO	2	EFO	cell line	ELF-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005901	"Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA." []	1143828	\N	\N	EFO	3	EFO	material entity	ELF-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005901	"Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA." []	2026461	\N	\N	EFO	4	EFO	experimental factor	ELF-1
EFO:0005903	\N	\N	"KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." []	EFO:0005903	"KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." []	67520	\N	\N	EFO	0	EFO	KBM-7	KBM-7
EFO:0002888	EFO:0005903	\N	"" []	EFO:0005903	"KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." []	209094	\N	\N	EFO	1	EFO	Homo sapiens cell line	KBM-7
EFO:0002926	EFO:0005903	\N	"" []	EFO:0005903	"KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." []	209095	\N	\N	EFO	1	EFO	ENCODE cell line	KBM-7
EFO:0005294	EFO:0005903	\N	"" []	EFO:0005903	"KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." []	209096	\N	\N	EFO	1	EFO	chronic myelogenous leukemia cell line	KBM-7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005903	"KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." []	562271	\N	\N	EFO	2	EFO	cell line	KBM-7
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005903	"KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." []	562272	\N	\N	EFO	2	EFO	cell line	KBM-7
EFO:0002937	EFO:0005294	\N	"" []	EFO:0005903	"KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." []	562273	\N	\N	EFO	2	EFO	lymphoma or leukaemia cell line	KBM-7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005903	"KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." []	3178610	\N	\N	EFO	5	EFO	material entity	KBM-7
EFO:0001639	EFO:0002937	\N	"" []	EFO:0005903	"KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." []	1143830	\N	\N	EFO	3	EFO	cancer cell line	KBM-7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005903	"KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." []	4066721	\N	\N	EFO	6	EFO	experimental factor	KBM-7
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005903	"KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8." []	2026463	\N	\N	EFO	4	EFO	cell line	KBM-7
EFO:0005904	\N	\N	"Undifferentiated embryonic stem cells" []	EFO:0005904	"Undifferentiated embryonic stem cells" []	67521	\N	\N	EFO	0	EFO	H7-hESC	H7-hESC
EFO:0002888	EFO:0005904	\N	"" []	EFO:0005904	"Undifferentiated embryonic stem cells" []	209097	\N	\N	EFO	1	EFO	Homo sapiens cell line	H7-hESC
EFO:0002926	EFO:0005904	\N	"" []	EFO:0005904	"Undifferentiated embryonic stem cells" []	209098	\N	\N	EFO	1	EFO	ENCODE cell line	H7-hESC
EFO:0003040	EFO:0005904	\N	"" []	EFO:0005904	"Undifferentiated embryonic stem cells" []	209099	\N	\N	EFO	1	EFO	embryonic cell line	H7-hESC
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005904	"Undifferentiated embryonic stem cells" []	562274	\N	\N	EFO	2	EFO	cell line	H7-hESC
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005904	"Undifferentiated embryonic stem cells" []	562275	\N	\N	EFO	2	EFO	cell line	H7-hESC
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005904	"Undifferentiated embryonic stem cells" []	562276	\N	\N	EFO	2	EFO	cell line	H7-hESC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005904	"Undifferentiated embryonic stem cells" []	1143831	\N	\N	EFO	3	EFO	material entity	H7-hESC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005904	"Undifferentiated embryonic stem cells" []	2026464	\N	\N	EFO	4	EFO	experimental factor	H7-hESC
EFO:0005906	\N	\N	"non-Hodgkin lymphoma derived cell lines" []	EFO:0005906	"non-Hodgkin lymphoma derived cell lines" []	67522	\N	\N	EFO	0	EFO	B-cell non-Hodgkin lymphoma cell line	B-cell non-Hodgkin lymphoma cell line
EFO:0001639	EFO:0005906	\N	"" []	EFO:0005906	"non-Hodgkin lymphoma derived cell lines" []	209100	\N	\N	EFO	1	EFO	cancer cell line	B-cell non-Hodgkin lymphoma cell line
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005906	"non-Hodgkin lymphoma derived cell lines" []	562277	\N	\N	EFO	2	EFO	cell line	B-cell non-Hodgkin lymphoma cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005906	"non-Hodgkin lymphoma derived cell lines" []	1143832	\N	\N	EFO	3	EFO	material entity	B-cell non-Hodgkin lymphoma cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005906	"non-Hodgkin lymphoma derived cell lines" []	2026465	\N	\N	EFO	4	EFO	experimental factor	B-cell non-Hodgkin lymphoma cell line
EFO:0005907	\N	\N	"Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983." []	EFO:0005907	"Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983." []	67523	\N	\N	EFO	0	EFO	OCI-LY1	OCI-LY1
EFO:0002888	EFO:0005907	\N	"" []	EFO:0005907	"Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983." []	209101	\N	\N	EFO	1	EFO	Homo sapiens cell line	OCI-LY1
EFO:0002926	EFO:0005907	\N	"" []	EFO:0005907	"Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983." []	209102	\N	\N	EFO	1	EFO	ENCODE cell line	OCI-LY1
EFO:0005906	EFO:0005907	\N	"non-Hodgkin lymphoma derived cell lines" []	EFO:0005907	"Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983." []	209103	\N	\N	EFO	1	EFO	B-cell non-Hodgkin lymphoma cell line	OCI-LY1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005907	"Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983." []	562278	\N	\N	EFO	2	EFO	cell line	OCI-LY1
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005907	"Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983." []	562279	\N	\N	EFO	2	EFO	cell line	OCI-LY1
EFO:0001639	EFO:0005906	\N	"" []	EFO:0005907	"Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983." []	562280	\N	\N	EFO	2	EFO	cancer cell line	OCI-LY1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005907	"Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983." []	2026467	\N	\N	EFO	4	EFO	material entity	OCI-LY1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005907	"Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983." []	1143834	\N	\N	EFO	3	EFO	cell line	OCI-LY1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005907	"Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983." []	2999667	\N	\N	EFO	5	EFO	experimental factor	OCI-LY1
EFO:0005909	\N	\N	"Dermal fibroblasts from an 8 year old male with Hutchinson-Gilford progeria syndrome (cell line HGPS, HGADFN167, progeria research foundation)." []	EFO:0005909	"Dermal fibroblasts from an 8 year old male with Hutchinson-Gilford progeria syndrome (cell line HGPS, HGADFN167, progeria research foundation)." []	67524	\N	\N	EFO	0	EFO	HGADFN167	HGADFN167
EFO:0002009	EFO:0005909	\N	"" []	EFO:0005909	"Dermal fibroblasts from an 8 year old male with Hutchinson-Gilford progeria syndrome (cell line HGPS, HGADFN167, progeria research foundation)." []	209104	\N	\N	EFO	1	EFO	fibroblast derived cell line	HGADFN167
EFO:0002888	EFO:0005909	\N	"" []	EFO:0005909	"Dermal fibroblasts from an 8 year old male with Hutchinson-Gilford progeria syndrome (cell line HGPS, HGADFN167, progeria research foundation)." []	209105	\N	\N	EFO	1	EFO	Homo sapiens cell line	HGADFN167
EFO:0002926	EFO:0005909	\N	"" []	EFO:0005909	"Dermal fibroblasts from an 8 year old male with Hutchinson-Gilford progeria syndrome (cell line HGPS, HGADFN167, progeria research foundation)." []	209106	\N	\N	EFO	1	EFO	ENCODE cell line	HGADFN167
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005909	"Dermal fibroblasts from an 8 year old male with Hutchinson-Gilford progeria syndrome (cell line HGPS, HGADFN167, progeria research foundation)." []	562281	\N	\N	EFO	2	EFO	cell line	HGADFN167
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005909	"Dermal fibroblasts from an 8 year old male with Hutchinson-Gilford progeria syndrome (cell line HGPS, HGADFN167, progeria research foundation)." []	562282	\N	\N	EFO	2	EFO	cell line	HGADFN167
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005909	"Dermal fibroblasts from an 8 year old male with Hutchinson-Gilford progeria syndrome (cell line HGPS, HGADFN167, progeria research foundation)." []	562283	\N	\N	EFO	2	EFO	cell line	HGADFN167
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005909	"Dermal fibroblasts from an 8 year old male with Hutchinson-Gilford progeria syndrome (cell line HGPS, HGADFN167, progeria research foundation)." []	1143835	\N	\N	EFO	3	EFO	material entity	HGADFN167
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005909	"Dermal fibroblasts from an 8 year old male with Hutchinson-Gilford progeria syndrome (cell line HGPS, HGADFN167, progeria research foundation)." []	2026468	\N	\N	EFO	4	EFO	experimental factor	HGADFN167
EFO:0005910	\N	\N	"The clonal embryonic stem cell line ES-D3 was derived from blastocysts of a male 129S2/SvPas strain mouse. The cells spontaneously differentiate into embryonic structures in the absence of a feeder layer or conditioned medium." []	EFO:0005910	"The clonal embryonic stem cell line ES-D3 was derived from blastocysts of a male 129S2/SvPas strain mouse. The cells spontaneously differentiate into embryonic structures in the absence of a feeder layer or conditioned medium." []	67525	\N	\N	EFO	0	EFO	ES-D3	ES-D3
EFO:0002887	EFO:0005910	\N	"Cell lines derived from mice." []	EFO:0005910	"The clonal embryonic stem cell line ES-D3 was derived from blastocysts of a male 129S2/SvPas strain mouse. The cells spontaneously differentiate into embryonic structures in the absence of a feeder layer or conditioned medium." []	209107	\N	\N	EFO	1	EFO	mouse cell line	ES-D3
EFO:0002926	EFO:0005910	\N	"" []	EFO:0005910	"The clonal embryonic stem cell line ES-D3 was derived from blastocysts of a male 129S2/SvPas strain mouse. The cells spontaneously differentiate into embryonic structures in the absence of a feeder layer or conditioned medium." []	209108	\N	\N	EFO	1	EFO	ENCODE cell line	ES-D3
EFO:0003040	EFO:0005910	\N	"" []	EFO:0005910	"The clonal embryonic stem cell line ES-D3 was derived from blastocysts of a male 129S2/SvPas strain mouse. The cells spontaneously differentiate into embryonic structures in the absence of a feeder layer or conditioned medium." []	209109	\N	\N	EFO	1	EFO	embryonic cell line	ES-D3
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005910	"The clonal embryonic stem cell line ES-D3 was derived from blastocysts of a male 129S2/SvPas strain mouse. The cells spontaneously differentiate into embryonic structures in the absence of a feeder layer or conditioned medium." []	562284	\N	\N	EFO	2	EFO	cell line	ES-D3
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005910	"The clonal embryonic stem cell line ES-D3 was derived from blastocysts of a male 129S2/SvPas strain mouse. The cells spontaneously differentiate into embryonic structures in the absence of a feeder layer or conditioned medium." []	562285	\N	\N	EFO	2	EFO	cell line	ES-D3
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005910	"The clonal embryonic stem cell line ES-D3 was derived from blastocysts of a male 129S2/SvPas strain mouse. The cells spontaneously differentiate into embryonic structures in the absence of a feeder layer or conditioned medium." []	562286	\N	\N	EFO	2	EFO	cell line	ES-D3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005910	"The clonal embryonic stem cell line ES-D3 was derived from blastocysts of a male 129S2/SvPas strain mouse. The cells spontaneously differentiate into embryonic structures in the absence of a feeder layer or conditioned medium." []	1143836	\N	\N	EFO	3	EFO	material entity	ES-D3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005910	"The clonal embryonic stem cell line ES-D3 was derived from blastocysts of a male 129S2/SvPas strain mouse. The cells spontaneously differentiate into embryonic structures in the absence of a feeder layer or conditioned medium." []	2026469	\N	\N	EFO	4	EFO	experimental factor	ES-D3
EFO:0005912	\N	\N	"An immortalized cell line from hTERT-infected myometrial cells (hTERT-HM). Cells were isolated from myometrial tissue obtained from women undergoing hysterectomy, and retroviral infection was used to express the catalytic subunit of telomerase in myometrial cells." []	EFO:0005912	"An immortalized cell line from hTERT-infected myometrial cells (hTERT-HM). Cells were isolated from myometrial tissue obtained from women undergoing hysterectomy, and retroviral infection was used to express the catalytic subunit of telomerase in myometrial cells." []	67526	\N	\N	EFO	0	EFO	hTERT-HM	hTERT-HM
EFO:0002888	EFO:0005912	\N	"" []	EFO:0005912	"An immortalized cell line from hTERT-infected myometrial cells (hTERT-HM). Cells were isolated from myometrial tissue obtained from women undergoing hysterectomy, and retroviral infection was used to express the catalytic subunit of telomerase in myometrial cells." []	209110	\N	\N	EFO	1	EFO	Homo sapiens cell line	hTERT-HM
EFO:0002926	EFO:0005912	\N	"" []	EFO:0005912	"An immortalized cell line from hTERT-infected myometrial cells (hTERT-HM). Cells were isolated from myometrial tissue obtained from women undergoing hysterectomy, and retroviral infection was used to express the catalytic subunit of telomerase in myometrial cells." []	209111	\N	\N	EFO	1	EFO	ENCODE cell line	hTERT-HM
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005912	"An immortalized cell line from hTERT-infected myometrial cells (hTERT-HM). Cells were isolated from myometrial tissue obtained from women undergoing hysterectomy, and retroviral infection was used to express the catalytic subunit of telomerase in myometrial cells." []	562287	\N	\N	EFO	2	EFO	cell line	hTERT-HM
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005912	"An immortalized cell line from hTERT-infected myometrial cells (hTERT-HM). Cells were isolated from myometrial tissue obtained from women undergoing hysterectomy, and retroviral infection was used to express the catalytic subunit of telomerase in myometrial cells." []	562288	\N	\N	EFO	2	EFO	cell line	hTERT-HM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005912	"An immortalized cell line from hTERT-infected myometrial cells (hTERT-HM). Cells were isolated from myometrial tissue obtained from women undergoing hysterectomy, and retroviral infection was used to express the catalytic subunit of telomerase in myometrial cells." []	1143837	\N	\N	EFO	3	EFO	material entity	hTERT-HM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005912	"An immortalized cell line from hTERT-infected myometrial cells (hTERT-HM). Cells were isolated from myometrial tissue obtained from women undergoing hysterectomy, and retroviral infection was used to express the catalytic subunit of telomerase in myometrial cells." []	2026470	\N	\N	EFO	4	EFO	experimental factor	hTERT-HM
EFO:0005913	\N	\N	"Primary ureter cell culture of urothelial cells derived from a 12 year-old girl and immortalized by transfection with a temperature-sensitive SV-40 large T antigen gene." []	EFO:0005913	"Primary ureter cell culture of urothelial cells derived from a 12 year-old girl and immortalized by transfection with a temperature-sensitive SV-40 large T antigen gene." []	67527	\N	\N	EFO	0	EFO	urothelium cell line	urothelium cell line
EFO:0002888	EFO:0005913	\N	"" []	EFO:0005913	"Primary ureter cell culture of urothelial cells derived from a 12 year-old girl and immortalized by transfection with a temperature-sensitive SV-40 large T antigen gene." []	209112	\N	\N	EFO	1	EFO	Homo sapiens cell line	urothelium cell line
EFO:0002926	EFO:0005913	\N	"" []	EFO:0005913	"Primary ureter cell culture of urothelial cells derived from a 12 year-old girl and immortalized by transfection with a temperature-sensitive SV-40 large T antigen gene." []	209113	\N	\N	EFO	1	EFO	ENCODE cell line	urothelium cell line
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005913	"Primary ureter cell culture of urothelial cells derived from a 12 year-old girl and immortalized by transfection with a temperature-sensitive SV-40 large T antigen gene." []	562289	\N	\N	EFO	2	EFO	cell line	urothelium cell line
EFO:0000322	EFO:0002926	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005913	"Primary ureter cell culture of urothelial cells derived from a 12 year-old girl and immortalized by transfection with a temperature-sensitive SV-40 large T antigen gene." []	562290	\N	\N	EFO	2	EFO	cell line	urothelium cell line
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005913	"Primary ureter cell culture of urothelial cells derived from a 12 year-old girl and immortalized by transfection with a temperature-sensitive SV-40 large T antigen gene." []	1143838	\N	\N	EFO	3	EFO	material entity	urothelium cell line
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005913	"Primary ureter cell culture of urothelial cells derived from a 12 year-old girl and immortalized by transfection with a temperature-sensitive SV-40 large T antigen gene." []	2026471	\N	\N	EFO	4	EFO	experimental factor	urothelium cell line
EFO:0005914	\N	\N	"ZHBTc4 undifferentiated mouse embryonic stem cells originated from a male mouse of the 129/Ola strain, and received as frozen ampoules from D. Levasseur (University of Iowa). These cells lack functional endogenous Oct4 alleles and harbor a regulatable Oct4 transgene." []	EFO:0005914	"ZHBTc4 undifferentiated mouse embryonic stem cells originated from a male mouse of the 129/Ola strain, and received as frozen ampoules from D. Levasseur (University of Iowa). These cells lack functional endogenous Oct4 alleles and harbor a regulatable Oct4 transgene." []	67528	\N	\N	EFO	0	EFO	ZHBTc4-mESC	ZHBTc4-mESC
EFO:0002887	EFO:0005914	\N	"Cell lines derived from mice." []	EFO:0005914	"ZHBTc4 undifferentiated mouse embryonic stem cells originated from a male mouse of the 129/Ola strain, and received as frozen ampoules from D. Levasseur (University of Iowa). These cells lack functional endogenous Oct4 alleles and harbor a regulatable Oct4 transgene." []	209114	\N	\N	EFO	1	EFO	mouse cell line	ZHBTc4-mESC
EFO:0003040	EFO:0005914	\N	"" []	EFO:0005914	"ZHBTc4 undifferentiated mouse embryonic stem cells originated from a male mouse of the 129/Ola strain, and received as frozen ampoules from D. Levasseur (University of Iowa). These cells lack functional endogenous Oct4 alleles and harbor a regulatable Oct4 transgene." []	209115	\N	\N	EFO	1	EFO	embryonic cell line	ZHBTc4-mESC
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005914	"ZHBTc4 undifferentiated mouse embryonic stem cells originated from a male mouse of the 129/Ola strain, and received as frozen ampoules from D. Levasseur (University of Iowa). These cells lack functional endogenous Oct4 alleles and harbor a regulatable Oct4 transgene." []	562291	\N	\N	EFO	2	EFO	cell line	ZHBTc4-mESC
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005914	"ZHBTc4 undifferentiated mouse embryonic stem cells originated from a male mouse of the 129/Ola strain, and received as frozen ampoules from D. Levasseur (University of Iowa). These cells lack functional endogenous Oct4 alleles and harbor a regulatable Oct4 transgene." []	562292	\N	\N	EFO	2	EFO	cell line	ZHBTc4-mESC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005914	"ZHBTc4 undifferentiated mouse embryonic stem cells originated from a male mouse of the 129/Ola strain, and received as frozen ampoules from D. Levasseur (University of Iowa). These cells lack functional endogenous Oct4 alleles and harbor a regulatable Oct4 transgene." []	1143839	\N	\N	EFO	3	EFO	material entity	ZHBTc4-mESC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005914	"ZHBTc4 undifferentiated mouse embryonic stem cells originated from a male mouse of the 129/Ola strain, and received as frozen ampoules from D. Levasseur (University of Iowa). These cells lack functional endogenous Oct4 alleles and harbor a regulatable Oct4 transgene." []	2026472	\N	\N	EFO	4	EFO	experimental factor	ZHBTc4-mESC
EFO:0005915	\N	\N	"Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains." []	EFO:0005915	"Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains." []	67529	\N	\N	EFO	0	EFO	WW6	WW6
EFO:0002887	EFO:0005915	\N	"Cell lines derived from mice." []	EFO:0005915	"Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains." []	209116	\N	\N	EFO	1	EFO	mouse cell line	WW6
EFO:0003040	EFO:0005915	\N	"" []	EFO:0005915	"Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains." []	209117	\N	\N	EFO	1	EFO	embryonic cell line	WW6
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005915	"Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains." []	562293	\N	\N	EFO	2	EFO	cell line	WW6
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005915	"Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains." []	562294	\N	\N	EFO	2	EFO	cell line	WW6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005915	"Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains." []	1143840	\N	\N	EFO	3	EFO	material entity	WW6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005915	"Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains." []	2026473	\N	\N	EFO	4	EFO	experimental factor	WW6
EFO:0005916	\N	\N	"Undifferentiated embryonic stem cells were originally isolated from 129S1/SVImJ strain mice by Swiatek PJ et al. in 1993." []	EFO:0005916	"Undifferentiated embryonic stem cells were originally isolated from 129S1/SVImJ strain mice by Swiatek PJ et al. in 1993." []	67530	\N	\N	EFO	0	EFO	ES-CJ7	ES-CJ7
EFO:0002887	EFO:0005916	\N	"Cell lines derived from mice." []	EFO:0005916	"Undifferentiated embryonic stem cells were originally isolated from 129S1/SVImJ strain mice by Swiatek PJ et al. in 1993." []	209118	\N	\N	EFO	1	EFO	mouse cell line	ES-CJ7
EFO:0003040	EFO:0005916	\N	"" []	EFO:0005916	"Undifferentiated embryonic stem cells were originally isolated from 129S1/SVImJ strain mice by Swiatek PJ et al. in 1993." []	209119	\N	\N	EFO	1	EFO	embryonic cell line	ES-CJ7
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005916	"Undifferentiated embryonic stem cells were originally isolated from 129S1/SVImJ strain mice by Swiatek PJ et al. in 1993." []	562295	\N	\N	EFO	2	EFO	cell line	ES-CJ7
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0005916	"Undifferentiated embryonic stem cells were originally isolated from 129S1/SVImJ strain mice by Swiatek PJ et al. in 1993." []	562296	\N	\N	EFO	2	EFO	cell line	ES-CJ7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005916	"Undifferentiated embryonic stem cells were originally isolated from 129S1/SVImJ strain mice by Swiatek PJ et al. in 1993." []	1143841	\N	\N	EFO	3	EFO	material entity	ES-CJ7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005916	"Undifferentiated embryonic stem cells were originally isolated from 129S1/SVImJ strain mice by Swiatek PJ et al. in 1993." []	2026474	\N	\N	EFO	4	EFO	experimental factor	ES-CJ7
EFO:0005917	\N	\N	"An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain" []	EFO:0005917	"An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain" []	67531	\N	\N	EFO	0	EFO	generalised epilepsy	generalised epilepsy
EFO:0000474	EFO:0005917	\N	"A disorder characterized by recurrent seizures" []	EFO:0005917	"An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain" []	209120	\N	\N	EFO	1	EFO	epilepsy	generalised epilepsy
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:0005917	"An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain" []	562297	\N	\N	EFO	2	EFO	brain disease	generalised epilepsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005917	"An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain" []	1143842	\N	\N	EFO	3	EFO	nervous system disease	generalised epilepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005917	"An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain" []	2026475	\N	\N	EFO	4	EFO	disease	generalised epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005917	"An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain" []	3178611	\N	\N	EFO	5	EFO	disposition	generalised epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005917	"An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain" []	4388320	\N	\N	EFO	6	EFO	material property	generalised epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005917	"An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain" []	5408851	\N	\N	EFO	7	EFO	experimental factor	generalised epilepsy
EFO:0005918	\N	\N	"quantification of osteoprotegerin in a sample" []	EFO:0005918	"quantification of osteoprotegerin in a sample" []	67532	\N	\N	EFO	0	EFO	osteoprotegerin measurement	osteoprotegerin measurement
EFO:0004747	EFO:0005918	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0005918	"quantification of osteoprotegerin in a sample" []	209121	\N	\N	EFO	1	EFO	protein measurement	osteoprotegerin measurement
EFO:0005278	EFO:0005918	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0005918	"quantification of osteoprotegerin in a sample" []	209122	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	osteoprotegerin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005918	"quantification of osteoprotegerin in a sample" []	562298	\N	\N	EFO	2	EFO	measurement	osteoprotegerin measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0005918	"quantification of osteoprotegerin in a sample" []	562299	\N	\N	EFO	2	EFO	cardiovascular measurement	osteoprotegerin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005918	"quantification of osteoprotegerin in a sample" []	2026477	\N	\N	EFO	4	EFO	information entity	osteoprotegerin measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005918	"quantification of osteoprotegerin in a sample" []	1143844	\N	\N	EFO	3	EFO	measurement	osteoprotegerin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005918	"quantification of osteoprotegerin in a sample" []	2999668	\N	\N	EFO	5	EFO	experimental factor	osteoprotegerin measurement
EFO:0005919	\N	\N	"quantification of any recombination-related factor, such as hotspot usage, African enchrichment and recombination rate" []	EFO:0005919	"quantification of any recombination-related factor, such as hotspot usage, African enchrichment and recombination rate" []	67533	\N	\N	EFO	0	EFO	recombination measurement	recombination measurement
EFO:0004554	EFO:0005919	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0005919	"quantification of any recombination-related factor, such as hotspot usage, African enchrichment and recombination rate" []	209123	\N	\N	EFO	1	EFO	genomic measurement	recombination measurement
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005919	"quantification of any recombination-related factor, such as hotspot usage, African enchrichment and recombination rate" []	562300	\N	\N	EFO	2	EFO	measurement	recombination measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005919	"quantification of any recombination-related factor, such as hotspot usage, African enchrichment and recombination rate" []	1143845	\N	\N	EFO	3	EFO	information entity	recombination measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005919	"quantification of any recombination-related factor, such as hotspot usage, African enchrichment and recombination rate" []	2026478	\N	\N	EFO	4	EFO	experimental factor	recombination measurement
EFO:0005921	\N	\N	"quantification of the rate of change in FEV of an individual over the course of time, used as an indicator of improvement or decay of pulmonary function" []	EFO:0005921	"quantification of the rate of change in FEV of an individual over the course of time, used as an indicator of improvement or decay of pulmonary function" []	67534	\N	\N	EFO	0	EFO	FEV change measurement	FEV change measurement
EFO:0003892	EFO:0005921	\N	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	EFO:0005921	"quantification of the rate of change in FEV of an individual over the course of time, used as an indicator of improvement or decay of pulmonary function" []	209124	\N	\N	EFO	1	EFO	pulmonary function measurement	FEV change measurement
EFO:0006841	EFO:0005921	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0005921	"quantification of the rate of change in FEV of an individual over the course of time, used as an indicator of improvement or decay of pulmonary function" []	209125	\N	\N	EFO	1	EFO	respiratory disease biomarker	FEV change measurement
EFO:0001444	EFO:0003892	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005921	"quantification of the rate of change in FEV of an individual over the course of time, used as an indicator of improvement or decay of pulmonary function" []	562301	\N	\N	EFO	2	EFO	measurement	FEV change measurement
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005921	"quantification of the rate of change in FEV of an individual over the course of time, used as an indicator of improvement or decay of pulmonary function" []	562302	\N	\N	EFO	2	EFO	measurement	FEV change measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005921	"quantification of the rate of change in FEV of an individual over the course of time, used as an indicator of improvement or decay of pulmonary function" []	1143846	\N	\N	EFO	3	EFO	information entity	FEV change measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005921	"quantification of the rate of change in FEV of an individual over the course of time, used as an indicator of improvement or decay of pulmonary function" []	2026479	\N	\N	EFO	4	EFO	experimental factor	FEV change measurement
EFO:0005922	\N	\N	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	67535	\N	\N	EFO	0	EFO	esophageal squamous cell carcinoma	esophageal squamous cell carcinoma
EFO:0000707	EFO:0005922	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	209126	\N	\N	EFO	1	EFO	squamous cell carcinoma	esophageal squamous cell carcinoma
EFO:0002916	EFO:0005922	\N	"Tumors or cancer of the ESOPHAGUS." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	209127	\N	\N	EFO	1	EFO	esophageal carcinoma	esophageal squamous cell carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	562303	\N	\N	EFO	2	EFO	carcinoma	esophageal squamous cell carcinoma
EFO:0000313	EFO:0002916	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	562304	\N	\N	EFO	2	EFO	carcinoma	esophageal squamous cell carcinoma
EFO:0000405	EFO:0002916	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	562305	\N	\N	EFO	2	EFO	digestive system disease	esophageal squamous cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	1143847	\N	\N	EFO	3	EFO	cancer	esophageal squamous cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	1143848	\N	\N	EFO	3	EFO	epithelial neoplasm	esophageal squamous cell carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	1143849	\N	\N	EFO	3	EFO	disease	esophageal squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	2026480	\N	\N	EFO	4	EFO	neoplasm	esophageal squamous cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	2026481	\N	\N	EFO	4	EFO	neoplasm	esophageal squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	4388321	\N	\N	EFO	6	EFO	disposition	esophageal squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	3178612	\N	\N	EFO	5	EFO	disease	esophageal squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	5059360	\N	\N	EFO	7	EFO	material property	esophageal squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005922	"A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." []	5876540	\N	\N	EFO	8	EFO	experimental factor	esophageal squamous cell carcinoma
EFO:0005923	\N	\N	"Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds." []	EFO:0005923	"Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds." []	67536	\N	\N	EFO	0	EFO	AVL induced bursal lymphoma	AVL induced bursal lymphoma
EFO:0005932	EFO:0005923	\N	"A disease that occurs in animals." []	EFO:0005923	"Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds." []	209128	\N	\N	EFO	1	EFO	animal disease	AVL induced bursal lymphoma
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005923	"Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds." []	562306	\N	\N	EFO	2	EFO	disease	AVL induced bursal lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005923	"Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds." []	1143850	\N	\N	EFO	3	EFO	disposition	AVL induced bursal lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005923	"Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds." []	2026483	\N	\N	EFO	4	EFO	material property	AVL induced bursal lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005923	"Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds." []	3178614	\N	\N	EFO	5	EFO	experimental factor	AVL induced bursal lymphoma
EFO:0005924	\N	\N	"binge eating with or without purging" []	EFO:0005924	"binge eating with or without purging" []	67537	\N	\N	EFO	0	EFO	binge eating	binge eating
EFO:0005203	EFO:0005924	\N	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	EFO:0005924	"binge eating with or without purging" []	209129	\N	\N	EFO	1	EFO	eating disorder	binge eating
EFO:0000677	EFO:0005203	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0005924	"binge eating with or without purging" []	562307	\N	\N	EFO	2	EFO	mental or behavioural disorder	binge eating
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0005924	"binge eating with or without purging" []	1143851	\N	\N	EFO	3	EFO	brain disease	binge eating
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0005924	"binge eating with or without purging" []	2026484	\N	\N	EFO	4	EFO	nervous system disease	binge eating
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005924	"binge eating with or without purging" []	3178615	\N	\N	EFO	5	EFO	disease	binge eating
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005924	"binge eating with or without purging" []	4388323	\N	\N	EFO	6	EFO	disposition	binge eating
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005924	"binge eating with or without purging" []	5408852	\N	\N	EFO	7	EFO	material property	binge eating
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005924	"binge eating with or without purging" []	6147513	\N	\N	EFO	8	EFO	experimental factor	binge eating
EFO:0005932	\N	\N	"A disease that occurs in animals." []	EFO:0005932	"A disease that occurs in animals." []	67538	\N	\N	EFO	0	EFO	animal disease	animal disease
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005932	"A disease that occurs in animals." []	209130	\N	\N	EFO	1	EFO	disease	animal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005932	"A disease that occurs in animals." []	562308	\N	\N	EFO	2	EFO	disposition	animal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005932	"A disease that occurs in animals." []	1143852	\N	\N	EFO	3	EFO	material property	animal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005932	"A disease that occurs in animals." []	2026485	\N	\N	EFO	4	EFO	experimental factor	animal disease
EFO:0005934	\N	\N	"" []	EFO:0005934	"" []	67539	\N	\N	EFO	0	EFO	disease cell type	disease cell type
EFO:0000324	EFO:0005934	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:0005934	"" []	209131	\N	\N	EFO	1	EFO	cell type	disease cell type
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0005934	"" []	562309	\N	\N	EFO	2	EFO	material entity	disease cell type
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005934	"" []	1143853	\N	\N	EFO	3	EFO	experimental factor	disease cell type
EFO:0005935	\N	\N	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a 25<BMI<30" []	EFO:0005935	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a 25<BMI<30" []	67540	\N	\N	EFO	0	EFO	overweight body mass index status	overweight body mass index status
EFO:0004340	EFO:0005935	\N	"An indicator of body density as determined by the relationship of BODY WEIGHTtoBODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" []	EFO:0005935	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a 25<BMI<30" []	209132	\N	\N	EFO	1	EFO	body mass index	overweight body mass index status
EFO:0004324	EFO:0004340	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0005935	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a 25<BMI<30" []	562310	\N	\N	EFO	2	EFO	body weights and measures	overweight body mass index status
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0005935	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a 25<BMI<30" []	1143854	\N	\N	EFO	3	EFO	anthropometric measurement	overweight body mass index status
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005935	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a 25<BMI<30" []	2026486	\N	\N	EFO	4	EFO	measurement	overweight body mass index status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005935	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a 25<BMI<30" []	3178616	\N	\N	EFO	5	EFO	information entity	overweight body mass index status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005935	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a 25<BMI<30" []	4388324	\N	\N	EFO	6	EFO	experimental factor	overweight body mass index status
EFO:0005936	\N	\N	"quantification of weight/height relationships below a certain threshold that classes an individual as underweight. This threshold may vary based on an individual's ethnicity but is commonly considered in European populations to correspond to a BMI < 18" []	EFO:0005936	"quantification of weight/height relationships below a certain threshold that classes an individual as underweight. This threshold may vary based on an individual's ethnicity but is commonly considered in European populations to correspond to a BMI < 18" []	67541	\N	\N	EFO	0	EFO	underweight body mass index status	underweight body mass index status
EFO:0004340	EFO:0005936	\N	"An indicator of body density as determined by the relationship of BODY WEIGHTtoBODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" []	EFO:0005936	"quantification of weight/height relationships below a certain threshold that classes an individual as underweight. This threshold may vary based on an individual's ethnicity but is commonly considered in European populations to correspond to a BMI < 18" []	209133	\N	\N	EFO	1	EFO	body mass index	underweight body mass index status
EFO:0004324	EFO:0004340	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0005936	"quantification of weight/height relationships below a certain threshold that classes an individual as underweight. This threshold may vary based on an individual's ethnicity but is commonly considered in European populations to correspond to a BMI < 18" []	562311	\N	\N	EFO	2	EFO	body weights and measures	underweight body mass index status
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0005936	"quantification of weight/height relationships below a certain threshold that classes an individual as underweight. This threshold may vary based on an individual's ethnicity but is commonly considered in European populations to correspond to a BMI < 18" []	1143855	\N	\N	EFO	3	EFO	anthropometric measurement	underweight body mass index status
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005936	"quantification of weight/height relationships below a certain threshold that classes an individual as underweight. This threshold may vary based on an individual's ethnicity but is commonly considered in European populations to correspond to a BMI < 18" []	2026487	\N	\N	EFO	4	EFO	measurement	underweight body mass index status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005936	"quantification of weight/height relationships below a certain threshold that classes an individual as underweight. This threshold may vary based on an individual's ethnicity but is commonly considered in European populations to correspond to a BMI < 18" []	3178617	\N	\N	EFO	5	EFO	information entity	underweight body mass index status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005936	"quantification of weight/height relationships below a certain threshold that classes an individual as underweight. This threshold may vary based on an individual's ethnicity but is commonly considered in European populations to correspond to a BMI < 18" []	4388325	\N	\N	EFO	6	EFO	experimental factor	underweight body mass index status
EFO:0005937	\N	\N	"quantification of the variation in body mass index over time" []	EFO:0005937	"quantification of the variation in body mass index over time" []	67542	\N	\N	EFO	0	EFO	longitudinal BMI measurement	longitudinal BMI measurement
EFO:0004340	EFO:0005937	\N	"An indicator of body density as determined by the relationship of BODY WEIGHTtoBODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" []	EFO:0005937	"quantification of the variation in body mass index over time" []	209134	\N	\N	EFO	1	EFO	body mass index	longitudinal BMI measurement
EFO:0004324	EFO:0004340	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0005937	"quantification of the variation in body mass index over time" []	562312	\N	\N	EFO	2	EFO	body weights and measures	longitudinal BMI measurement
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0005937	"quantification of the variation in body mass index over time" []	1143856	\N	\N	EFO	3	EFO	anthropometric measurement	longitudinal BMI measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005937	"quantification of the variation in body mass index over time" []	2026488	\N	\N	EFO	4	EFO	measurement	longitudinal BMI measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005937	"quantification of the variation in body mass index over time" []	3178618	\N	\N	EFO	5	EFO	information entity	longitudinal BMI measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005937	"quantification of the variation in body mass index over time" []	4388326	\N	\N	EFO	6	EFO	experimental factor	longitudinal BMI measurement
EFO:0005938	\N	\N	"serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" []	EFO:0005938	"serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" []	67543	\N	\N	EFO	0	EFO	congenital left-sided heart lesions	congenital left-sided heart lesions
EFO:0005269	EFO:0005938	\N	"any structural anomly of the heart that is present from birth" []	EFO:0005938	"serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" []	209135	\N	\N	EFO	1	EFO	congenital heart malformation	congenital left-sided heart lesions
EFO:0000508	EFO:0005269	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0005938	"serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" []	562313	\N	\N	EFO	2	EFO	genetic disorder	congenital left-sided heart lesions
EFO:0005207	EFO:0005269	\N	"any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" []	EFO:0005938	"serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" []	562314	\N	\N	EFO	2	EFO	congenital heart disease	congenital left-sided heart lesions
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005938	"serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" []	1143857	\N	\N	EFO	3	EFO	disease	congenital left-sided heart lesions
EFO:0003777	EFO:0005207	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0005938	"serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" []	1143858	\N	\N	EFO	3	EFO	heart disease	congenital left-sided heart lesions
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005938	"serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" []	4388328	\N	\N	EFO	6	EFO	disposition	congenital left-sided heart lesions
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005938	"serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" []	2026490	\N	\N	EFO	4	EFO	cardiovascular disease	congenital left-sided heart lesions
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005938	"serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" []	5059361	\N	\N	EFO	7	EFO	material property	congenital left-sided heart lesions
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005938	"serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" []	3178620	\N	\N	EFO	5	EFO	disease	congenital left-sided heart lesions
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005938	"serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" []	5876541	\N	\N	EFO	8	EFO	experimental factor	congenital left-sided heart lesions
EFO:0005939	\N	\N	"quantification of the effect of the parental genotype, usually the maternal genotype on the development of a child, for example to determine its influence on congenital abnormalities" []	EFO:0005939	"quantification of the effect of the parental genotype, usually the maternal genotype on the development of a child, for example to determine its influence on congenital abnormalities" []	67544	\N	\N	EFO	0	EFO	parental genotype effect measurement	parental genotype effect measurement
EFO:0007958	EFO:0005939	\N	"quantification of the effect of an external genotype, eg from a parent/fetus during pregnancy or organ donor, on some aspect of an individual's metabolic processes" []	EFO:0005939	"quantification of the effect of the parental genotype, usually the maternal genotype on the development of a child, for example to determine its influence on congenital abnormalities" []	209136	\N	\N	EFO	1	EFO	genotype effect measurement	parental genotype effect measurement
EFO:0001444	EFO:0007958	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005939	"quantification of the effect of the parental genotype, usually the maternal genotype on the development of a child, for example to determine its influence on congenital abnormalities" []	562315	\N	\N	EFO	2	EFO	measurement	parental genotype effect measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005939	"quantification of the effect of the parental genotype, usually the maternal genotype on the development of a child, for example to determine its influence on congenital abnormalities" []	1143859	\N	\N	EFO	3	EFO	information entity	parental genotype effect measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005939	"quantification of the effect of the parental genotype, usually the maternal genotype on the development of a child, for example to determine its influence on congenital abnormalities" []	2026491	\N	\N	EFO	4	EFO	experimental factor	parental genotype effect measurement
EFO:0005940	\N	\N	"symptoms of psychosis and altered mental status experienced as a result of drug consumption or as a result of a mental or behavioural disorder such as schizophrenia or bipolar disorder" []	EFO:0005940	"symptoms of psychosis and altered mental status experienced as a result of drug consumption or as a result of a mental or behavioural disorder such as schizophrenia or bipolar disorder" []	67545	\N	\N	EFO	0	EFO	psychotic symptoms	psychotic symptoms
EFO:0004364	EFO:0005940	\N	"Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information." []	EFO:0005940	"symptoms of psychosis and altered mental status experienced as a result of drug consumption or as a result of a mental or behavioural disorder such as schizophrenia or bipolar disorder" []	209137	\N	\N	EFO	1	EFO	neurobehavioral manifestations	psychotic symptoms
EFO:0005941	\N	\N	"quantification of the density of breast tissue from a mammogram, used as an indicator of breast cancer risk" []	EFO:0005941	"quantification of the density of breast tissue from a mammogram, used as an indicator of breast cancer risk" []	67546	\N	\N	EFO	0	EFO	mammographic density measurement	mammographic density measurement
EFO:0001444	EFO:0005941	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005941	"quantification of the density of breast tissue from a mammogram, used as an indicator of breast cancer risk" []	209138	\N	\N	EFO	1	EFO	measurement	mammographic density measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005941	"quantification of the density of breast tissue from a mammogram, used as an indicator of breast cancer risk" []	562316	\N	\N	EFO	2	EFO	information entity	mammographic density measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005941	"quantification of the density of breast tissue from a mammogram, used as an indicator of breast cancer risk" []	1143860	\N	\N	EFO	3	EFO	experimental factor	mammographic density measurement
EFO:0005942	\N	\N	"A form of hypertension that occurs as a direct result of chemotherapy treatment" []	EFO:0005942	"A form of hypertension that occurs as a direct result of chemotherapy treatment" []	67547	\N	\N	EFO	0	EFO	chemotherapy-induced hypertension	chemotherapy-induced hypertension
EFO:0000537	EFO:0005942	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:0005942	"A form of hypertension that occurs as a direct result of chemotherapy treatment" []	209139	\N	\N	EFO	1	EFO	hypertension	chemotherapy-induced hypertension
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0005942	"A form of hypertension that occurs as a direct result of chemotherapy treatment" []	562317	\N	\N	EFO	2	EFO	cardiovascular disease	chemotherapy-induced hypertension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005942	"A form of hypertension that occurs as a direct result of chemotherapy treatment" []	1143861	\N	\N	EFO	3	EFO	disease	chemotherapy-induced hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005942	"A form of hypertension that occurs as a direct result of chemotherapy treatment" []	2026492	\N	\N	EFO	4	EFO	disposition	chemotherapy-induced hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005942	"A form of hypertension that occurs as a direct result of chemotherapy treatment" []	3178621	\N	\N	EFO	5	EFO	material property	chemotherapy-induced hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005942	"A form of hypertension that occurs as a direct result of chemotherapy treatment" []	4388329	\N	\N	EFO	6	EFO	experimental factor	chemotherapy-induced hypertension
EFO:0005943	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with the chemotherapy drug bevacizumab." []	EFO:0005943	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with the chemotherapy drug bevacizumab." []	67548	\N	\N	EFO	0	EFO	response to bevacizumab	response to bevacizumab
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0005943	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with the chemotherapy drug bevacizumab." []	194759	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to bevacizumab
EFO:0005944	\N	\N	"physiological response to the cumulative treatment dose of the drug bevacizumab" []	EFO:0005944	"physiological response to the cumulative treatment dose of the drug bevacizumab" []	67549	\N	\N	EFO	0	EFO	cumulative dose response to bevacizumab	cumulative dose response to bevacizumab
EFO:0005943	EFO:0005944	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with the chemotherapy drug bevacizumab." []	EFO:0005944	"physiological response to the cumulative treatment dose of the drug bevacizumab" []	209140	\N	\N	EFO	1	EFO	response to bevacizumab	cumulative dose response to bevacizumab
EFO:0005949	\N	\N	"The determination of the amount of antinuclear antibodies present in a sample." []	EFO:0005949	"The determination of the amount of antinuclear antibodies present in a sample." []	67550	\N	\N	EFO	0	EFO	antinuclear antibody measurement	antinuclear antibody measurement
EFO:0004556	EFO:0005949	\N	"Is the quantification of some antibody" []	EFO:0005949	"The determination of the amount of antinuclear antibodies present in a sample." []	209141	\N	\N	EFO	1	EFO	antibody measurement	antinuclear antibody measurement
EFO:0006846	EFO:0005949	\N	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	EFO:0005949	"The determination of the amount of antinuclear antibodies present in a sample." []	209142	\N	\N	EFO	1	EFO	autoimmune disease biomarker	antinuclear antibody measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005949	"The determination of the amount of antinuclear antibodies present in a sample." []	562318	\N	\N	EFO	2	EFO	measurement	antinuclear antibody measurement
EFO:0001444	EFO:0006846	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0005949	"The determination of the amount of antinuclear antibodies present in a sample." []	562319	\N	\N	EFO	2	EFO	measurement	antinuclear antibody measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0005949	"The determination of the amount of antinuclear antibodies present in a sample." []	1143862	\N	\N	EFO	3	EFO	information entity	antinuclear antibody measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005949	"The determination of the amount of antinuclear antibodies present in a sample." []	2026493	\N	\N	EFO	4	EFO	experimental factor	antinuclear antibody measurement
EFO:0005950	\N	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0005950	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	67551	\N	\N	EFO	0	EFO	head and neck neoplasia	head and neck neoplasia
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0005950	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	209143	\N	\N	EFO	1	EFO	head disease	head and neck neoplasia
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005950	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	209144	\N	\N	EFO	1	EFO	neoplasm	head and neck neoplasia
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005950	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	562320	\N	\N	EFO	2	EFO	disease	head and neck neoplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005950	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	562321	\N	\N	EFO	2	EFO	disease	head and neck neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005950	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	1143863	\N	\N	EFO	3	EFO	disposition	head and neck neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005950	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	2026494	\N	\N	EFO	4	EFO	material property	head and neck neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005950	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	3178622	\N	\N	EFO	5	EFO	experimental factor	head and neck neoplasia
EFO:0005951	\N	\N	"phenotypic differentiation between males and females of the same species, eg in size, coloration, behaviour or another characteristic." []	EFO:0005951	"phenotypic differentiation between males and females of the same species, eg in size, coloration, behaviour or another characteristic." []	67552	\N	\N	EFO	0	EFO	sexual dimorphism	sexual dimorphism
BFO:0000019	EFO:0005951	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0005951	"phenotypic differentiation between males and females of the same species, eg in size, coloration, behaviour or another characteristic." []	209145	\N	\N	EFO	1	EFO	quality	sexual dimorphism
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005951	"phenotypic differentiation between males and females of the same species, eg in size, coloration, behaviour or another characteristic." []	562322	\N	\N	EFO	2	EFO	material property	sexual dimorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005951	"phenotypic differentiation between males and females of the same species, eg in size, coloration, behaviour or another characteristic." []	1143864	\N	\N	EFO	3	EFO	experimental factor	sexual dimorphism
EFO:0005952	\N	\N	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	EFO:0005952	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	67553	\N	\N	EFO	0	EFO	non-Hodgkins lymphoma	non-Hodgkins lymphoma
EFO:0000574	EFO:0005952	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:0005952	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	209146	\N	\N	EFO	1	EFO	lymphoma	non-Hodgkins lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0005952	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	562323	\N	\N	EFO	2	EFO	lymphoid neoplasm	non-Hodgkins lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0005952	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	1143865	\N	\N	EFO	3	EFO	cancer	non-Hodgkins lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0005952	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	1143866	\N	\N	EFO	3	EFO	hematological system disease	non-Hodgkins lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0005952	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	2026495	\N	\N	EFO	4	EFO	neoplasm	non-Hodgkins lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005952	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	2026496	\N	\N	EFO	4	EFO	disease	non-Hodgkins lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0005952	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	3178623	\N	\N	EFO	5	EFO	disease	non-Hodgkins lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0005952	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	4388330	\N	\N	EFO	6	EFO	disposition	non-Hodgkins lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0005952	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	5181013	\N	\N	EFO	7	EFO	material property	non-Hodgkins lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0005952	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	5996618	\N	\N	EFO	8	EFO	experimental factor	non-Hodgkins lymphoma
EFO:0006266	\N	\N	"quantification of skinfold thickness as a proxy for measuring the amount of adipose tissue" []	EFO:0006266	"quantification of skinfold thickness as a proxy for measuring the amount of adipose tissue" []	67554	\N	\N	EFO	0	EFO	sum of skinfolds	sum of skinfolds
EFO:0004764	EFO:0006266	\N	"Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." []	EFO:0006266	"quantification of skinfold thickness as a proxy for measuring the amount of adipose tissue" []	209147	\N	\N	EFO	1	EFO	adipose tissue measurement	sum of skinfolds
EFO:0004302	EFO:0004764	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0006266	"quantification of skinfold thickness as a proxy for measuring the amount of adipose tissue" []	562324	\N	\N	EFO	2	EFO	anthropometric measurement	sum of skinfolds
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006266	"quantification of skinfold thickness as a proxy for measuring the amount of adipose tissue" []	1143867	\N	\N	EFO	3	EFO	measurement	sum of skinfolds
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006266	"quantification of skinfold thickness as a proxy for measuring the amount of adipose tissue" []	2026497	\N	\N	EFO	4	EFO	information entity	sum of skinfolds
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006266	"quantification of skinfold thickness as a proxy for measuring the amount of adipose tissue" []	3178625	\N	\N	EFO	5	EFO	experimental factor	sum of skinfolds
EFO:0006268	\N	\N	"The epidermoid carcinoma cell line A-431, derived from an 85-year-old female, is one of a series of cell lines established from solid tumors by D.J. Giard, et al. This is a hypertriploid human cell line. The modal chromosome number was 74 occurring in 36% of cells. The rate of cells with higher ploidies was 1.0%." []	EFO:0006268	"The epidermoid carcinoma cell line A-431, derived from an 85-year-old female, is one of a series of cell lines established from solid tumors by D.J. Giard, et al. This is a hypertriploid human cell line. The modal chromosome number was 74 occurring in 36% of cells. The rate of cells with higher ploidies was 1.0%." []	67555	\N	\N	EFO	0	EFO	A431	A431
EFO:0001639	EFO:0006268	\N	"" []	EFO:0006268	"The epidermoid carcinoma cell line A-431, derived from an 85-year-old female, is one of a series of cell lines established from solid tumors by D.J. Giard, et al. This is a hypertriploid human cell line. The modal chromosome number was 74 occurring in 36% of cells. The rate of cells with higher ploidies was 1.0%." []	209148	\N	\N	EFO	1	EFO	cancer cell line	A431
EFO:0001641	EFO:0006268	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006268	"The epidermoid carcinoma cell line A-431, derived from an 85-year-old female, is one of a series of cell lines established from solid tumors by D.J. Giard, et al. This is a hypertriploid human cell line. The modal chromosome number was 74 occurring in 36% of cells. The rate of cells with higher ploidies was 1.0%." []	209149	\N	\N	EFO	1	EFO	epithelial cell derived cell line	A431
EFO:0002888	EFO:0006268	\N	"" []	EFO:0006268	"The epidermoid carcinoma cell line A-431, derived from an 85-year-old female, is one of a series of cell lines established from solid tumors by D.J. Giard, et al. This is a hypertriploid human cell line. The modal chromosome number was 74 occurring in 36% of cells. The rate of cells with higher ploidies was 1.0%." []	209150	\N	\N	EFO	1	EFO	Homo sapiens cell line	A431
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006268	"The epidermoid carcinoma cell line A-431, derived from an 85-year-old female, is one of a series of cell lines established from solid tumors by D.J. Giard, et al. This is a hypertriploid human cell line. The modal chromosome number was 74 occurring in 36% of cells. The rate of cells with higher ploidies was 1.0%." []	562325	\N	\N	EFO	2	EFO	cell line	A431
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006268	"The epidermoid carcinoma cell line A-431, derived from an 85-year-old female, is one of a series of cell lines established from solid tumors by D.J. Giard, et al. This is a hypertriploid human cell line. The modal chromosome number was 74 occurring in 36% of cells. The rate of cells with higher ploidies was 1.0%." []	562326	\N	\N	EFO	2	EFO	cell line	A431
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006268	"The epidermoid carcinoma cell line A-431, derived from an 85-year-old female, is one of a series of cell lines established from solid tumors by D.J. Giard, et al. This is a hypertriploid human cell line. The modal chromosome number was 74 occurring in 36% of cells. The rate of cells with higher ploidies was 1.0%." []	562327	\N	\N	EFO	2	EFO	cell line	A431
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006268	"The epidermoid carcinoma cell line A-431, derived from an 85-year-old female, is one of a series of cell lines established from solid tumors by D.J. Giard, et al. This is a hypertriploid human cell line. The modal chromosome number was 74 occurring in 36% of cells. The rate of cells with higher ploidies was 1.0%." []	1143868	\N	\N	EFO	3	EFO	material entity	A431
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006268	"The epidermoid carcinoma cell line A-431, derived from an 85-year-old female, is one of a series of cell lines established from solid tumors by D.J. Giard, et al. This is a hypertriploid human cell line. The modal chromosome number was 74 occurring in 36% of cells. The rate of cells with higher ploidies was 1.0%." []	2026498	\N	\N	EFO	4	EFO	experimental factor	A431
EFO:0006269	\N	\N	"Cell line was established by fusion of primary human first trimester trophoblasts (week 12 of gestation) with a human choriocarcinoma cell line (AC1-1)." []	EFO:0006269	"Cell line was established by fusion of primary human first trimester trophoblasts (week 12 of gestation) with a human choriocarcinoma cell line (AC1-1)." []	67556	\N	\N	EFO	0	EFO	ACH-3P	ACH-3P
EFO:0002888	EFO:0006269	\N	"" []	EFO:0006269	"Cell line was established by fusion of primary human first trimester trophoblasts (week 12 of gestation) with a human choriocarcinoma cell line (AC1-1)." []	209151	\N	\N	EFO	1	EFO	Homo sapiens cell line	ACH-3P
EFO:0002922	EFO:0006269	\N	"" []	EFO:0006269	"Cell line was established by fusion of primary human first trimester trophoblasts (week 12 of gestation) with a human choriocarcinoma cell line (AC1-1)." []	209152	\N	\N	EFO	1	EFO	normal cell line	ACH-3P
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006269	"Cell line was established by fusion of primary human first trimester trophoblasts (week 12 of gestation) with a human choriocarcinoma cell line (AC1-1)." []	562328	\N	\N	EFO	2	EFO	cell line	ACH-3P
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006269	"Cell line was established by fusion of primary human first trimester trophoblasts (week 12 of gestation) with a human choriocarcinoma cell line (AC1-1)." []	562329	\N	\N	EFO	2	EFO	cell line	ACH-3P
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006269	"Cell line was established by fusion of primary human first trimester trophoblasts (week 12 of gestation) with a human choriocarcinoma cell line (AC1-1)." []	1143869	\N	\N	EFO	3	EFO	material entity	ACH-3P
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006269	"Cell line was established by fusion of primary human first trimester trophoblasts (week 12 of gestation) with a human choriocarcinoma cell line (AC1-1)." []	2026499	\N	\N	EFO	4	EFO	experimental factor	ACH-3P
EFO:0006270	\N	\N	"The culture was initiated on 5/20/80 from explants of minced lung tissue taken from a therapeutically aborted fetus of 12 weeks gestational age. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. A matched skin-derived fibroblast culture from same fetus is AG04449." []	EFO:0006270	"The culture was initiated on 5/20/80 from explants of minced lung tissue taken from a therapeutically aborted fetus of 12 weeks gestational age. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. A matched skin-derived fibroblast culture from same fetus is AG04449." []	67557	\N	\N	EFO	0	EFO	AG04450	AG04450
EFO:0002009	EFO:0006270	\N	"" []	EFO:0006270	"The culture was initiated on 5/20/80 from explants of minced lung tissue taken from a therapeutically aborted fetus of 12 weeks gestational age. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. A matched skin-derived fibroblast culture from same fetus is AG04449." []	209153	\N	\N	EFO	1	EFO	fibroblast derived cell line	AG04450
EFO:0002888	EFO:0006270	\N	"" []	EFO:0006270	"The culture was initiated on 5/20/80 from explants of minced lung tissue taken from a therapeutically aborted fetus of 12 weeks gestational age. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. A matched skin-derived fibroblast culture from same fetus is AG04449." []	209154	\N	\N	EFO	1	EFO	Homo sapiens cell line	AG04450
EFO:0002922	EFO:0006270	\N	"" []	EFO:0006270	"The culture was initiated on 5/20/80 from explants of minced lung tissue taken from a therapeutically aborted fetus of 12 weeks gestational age. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. A matched skin-derived fibroblast culture from same fetus is AG04449." []	209155	\N	\N	EFO	1	EFO	normal cell line	AG04450
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006270	"The culture was initiated on 5/20/80 from explants of minced lung tissue taken from a therapeutically aborted fetus of 12 weeks gestational age. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. A matched skin-derived fibroblast culture from same fetus is AG04449." []	562330	\N	\N	EFO	2	EFO	cell line	AG04450
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006270	"The culture was initiated on 5/20/80 from explants of minced lung tissue taken from a therapeutically aborted fetus of 12 weeks gestational age. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. A matched skin-derived fibroblast culture from same fetus is AG04449." []	562331	\N	\N	EFO	2	EFO	cell line	AG04450
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006270	"The culture was initiated on 5/20/80 from explants of minced lung tissue taken from a therapeutically aborted fetus of 12 weeks gestational age. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. A matched skin-derived fibroblast culture from same fetus is AG04449." []	562332	\N	\N	EFO	2	EFO	cell line	AG04450
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006270	"The culture was initiated on 5/20/80 from explants of minced lung tissue taken from a therapeutically aborted fetus of 12 weeks gestational age. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. A matched skin-derived fibroblast culture from same fetus is AG04449." []	1143870	\N	\N	EFO	3	EFO	material entity	AG04450
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006270	"The culture was initiated on 5/20/80 from explants of minced lung tissue taken from a therapeutically aborted fetus of 12 weeks gestational age. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. A matched skin-derived fibroblast culture from same fetus is AG04449." []	2026500	\N	\N	EFO	4	EFO	experimental factor	AG04450
EFO:0006271	\N	\N	"ARPE-19 is a spontaneously arising retinal pigment epithelia (RPE) cell line derived in 1986 by Amy Aotaki-Keen from the normal eyes of a 19-year-old male who died from head trauma in a motor vehicle accident." []	EFO:0006271	"ARPE-19 is a spontaneously arising retinal pigment epithelia (RPE) cell line derived in 1986 by Amy Aotaki-Keen from the normal eyes of a 19-year-old male who died from head trauma in a motor vehicle accident." []	67558	\N	\N	EFO	0	EFO	ARPE-19	ARPE-19
EFO:0001641	EFO:0006271	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006271	"ARPE-19 is a spontaneously arising retinal pigment epithelia (RPE) cell line derived in 1986 by Amy Aotaki-Keen from the normal eyes of a 19-year-old male who died from head trauma in a motor vehicle accident." []	209156	\N	\N	EFO	1	EFO	epithelial cell derived cell line	ARPE-19
EFO:0002888	EFO:0006271	\N	"" []	EFO:0006271	"ARPE-19 is a spontaneously arising retinal pigment epithelia (RPE) cell line derived in 1986 by Amy Aotaki-Keen from the normal eyes of a 19-year-old male who died from head trauma in a motor vehicle accident." []	209157	\N	\N	EFO	1	EFO	Homo sapiens cell line	ARPE-19
EFO:0002922	EFO:0006271	\N	"" []	EFO:0006271	"ARPE-19 is a spontaneously arising retinal pigment epithelia (RPE) cell line derived in 1986 by Amy Aotaki-Keen from the normal eyes of a 19-year-old male who died from head trauma in a motor vehicle accident." []	209158	\N	\N	EFO	1	EFO	normal cell line	ARPE-19
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006271	"ARPE-19 is a spontaneously arising retinal pigment epithelia (RPE) cell line derived in 1986 by Amy Aotaki-Keen from the normal eyes of a 19-year-old male who died from head trauma in a motor vehicle accident." []	562333	\N	\N	EFO	2	EFO	cell line	ARPE-19
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006271	"ARPE-19 is a spontaneously arising retinal pigment epithelia (RPE) cell line derived in 1986 by Amy Aotaki-Keen from the normal eyes of a 19-year-old male who died from head trauma in a motor vehicle accident." []	562334	\N	\N	EFO	2	EFO	cell line	ARPE-19
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006271	"ARPE-19 is a spontaneously arising retinal pigment epithelia (RPE) cell line derived in 1986 by Amy Aotaki-Keen from the normal eyes of a 19-year-old male who died from head trauma in a motor vehicle accident." []	562335	\N	\N	EFO	2	EFO	cell line	ARPE-19
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006271	"ARPE-19 is a spontaneously arising retinal pigment epithelia (RPE) cell line derived in 1986 by Amy Aotaki-Keen from the normal eyes of a 19-year-old male who died from head trauma in a motor vehicle accident." []	1143871	\N	\N	EFO	3	EFO	material entity	ARPE-19
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006271	"ARPE-19 is a spontaneously arising retinal pigment epithelia (RPE) cell line derived in 1986 by Amy Aotaki-Keen from the normal eyes of a 19-year-old male who died from head trauma in a motor vehicle accident." []	2026501	\N	\N	EFO	4	EFO	experimental factor	ARPE-19
EFO:0006273	\N	\N	"The germ-line competent cell line CGR8 was established from the inner cell mass of a 3.5 day male pre-implantation mouse embryo (Mus musculus, strain 129). These pluripotent cells retain the ability to participate in normal embryonic development. Differentiation of CGR8 cells is inhibited by the pleiotropic cytokine Differentiation Inhibiting Activity (DIA) which is identical to Leukaemia Inhibiting Factor (LIF). Addition of DIA/LIF is essential and allows culture of CGR8 without the use of feeder layers. Cells are small and tightly packed." []	EFO:0006273	"The germ-line competent cell line CGR8 was established from the inner cell mass of a 3.5 day male pre-implantation mouse embryo (Mus musculus, strain 129). These pluripotent cells retain the ability to participate in normal embryonic development. Differentiation of CGR8 cells is inhibited by the pleiotropic cytokine Differentiation Inhibiting Activity (DIA) which is identical to Leukaemia Inhibiting Factor (LIF). Addition of DIA/LIF is essential and allows culture of CGR8 without the use of feeder layers. Cells are small and tightly packed." []	67559	\N	\N	EFO	0	EFO	CGR8	CGR8
EFO:0002922	EFO:0006273	\N	"" []	EFO:0006273	"The germ-line competent cell line CGR8 was established from the inner cell mass of a 3.5 day male pre-implantation mouse embryo (Mus musculus, strain 129). These pluripotent cells retain the ability to participate in normal embryonic development. Differentiation of CGR8 cells is inhibited by the pleiotropic cytokine Differentiation Inhibiting Activity (DIA) which is identical to Leukaemia Inhibiting Factor (LIF). Addition of DIA/LIF is essential and allows culture of CGR8 without the use of feeder layers. Cells are small and tightly packed." []	209159	\N	\N	EFO	1	EFO	normal cell line	CGR8
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006273	"The germ-line competent cell line CGR8 was established from the inner cell mass of a 3.5 day male pre-implantation mouse embryo (Mus musculus, strain 129). These pluripotent cells retain the ability to participate in normal embryonic development. Differentiation of CGR8 cells is inhibited by the pleiotropic cytokine Differentiation Inhibiting Activity (DIA) which is identical to Leukaemia Inhibiting Factor (LIF). Addition of DIA/LIF is essential and allows culture of CGR8 without the use of feeder layers. Cells are small and tightly packed." []	562336	\N	\N	EFO	2	EFO	cell line	CGR8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006273	"The germ-line competent cell line CGR8 was established from the inner cell mass of a 3.5 day male pre-implantation mouse embryo (Mus musculus, strain 129). These pluripotent cells retain the ability to participate in normal embryonic development. Differentiation of CGR8 cells is inhibited by the pleiotropic cytokine Differentiation Inhibiting Activity (DIA) which is identical to Leukaemia Inhibiting Factor (LIF). Addition of DIA/LIF is essential and allows culture of CGR8 without the use of feeder layers. Cells are small and tightly packed." []	1143872	\N	\N	EFO	3	EFO	material entity	CGR8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006273	"The germ-line competent cell line CGR8 was established from the inner cell mass of a 3.5 day male pre-implantation mouse embryo (Mus musculus, strain 129). These pluripotent cells retain the ability to participate in normal embryonic development. Differentiation of CGR8 cells is inhibited by the pleiotropic cytokine Differentiation Inhibiting Activity (DIA) which is identical to Leukaemia Inhibiting Factor (LIF). Addition of DIA/LIF is essential and allows culture of CGR8 without the use of feeder layers. Cells are small and tightly packed." []	2026502	\N	\N	EFO	4	EFO	experimental factor	CGR8
EFO:0006274	\N	\N	"The DT40 chicken B cell line is derived from an avian leukosis virus (ALV)-induced bursal lymphoma. The ALV was injected intravenously into Hyline SC chickens and a resulting tumor was twice transplanted in vivo prior to cell culturing (Baba and Humphries, 1984; Baba et al., 1985). The DT40 cells are small, approximately 10 ?m in diameter, and have a high nucleus to cytoplasm ratio (Fig. 1). They carry IgM on the surface, and although Baba et al. (1985) did not find evidence of secreted IgM, others have (Takagaki et al., 1996; Takami et al., 1999). DT40 cells do release ALV into the surroundings, but in negligible amounts (Baba et al., 1985). In keeping with the observation that nearly 85% of all ALV-induced tumors are disrupted in the c-myc locus, the DT40 cells have integrated the 3? viral long terminal repeat (LTR) upstream of the c-myc gene ( Hayward et al., 1981). The 3? LTR is in the same orientation as c-myc, elevating the transcription levels 100-fold in this cell line compared with normal avian bursal cells ( Baba et al., 1985). Whereas Baba et al. (1985) detected a normal and an altered c-myc allele, Kim et al. (1990) reported a possible mitotic recombination event among the parental alleles, as they describe the loss of the normal c-myc allele and instead find two copies of the altered c-myc gene. DT40 cells continue to undergo gene conversion, as seen by testing for the presence or absence of various restriction sites within the light chain variable region ( Thompson et al., 1987). Although the DT40 cell line may best be characterized as being a bursal B cell line, the ongoing gene conversion and the fact that v-myc transformed cells can reconstitute an ablated bursa of Fabricius suggests, that the DT40 cell line is arrested at a bursal stem cell stage of differentiation ( Baba et al., 1985; Thompson et al., 1987; McCormack et al., 1991)." []	EFO:0006274	"The DT40 chicken B cell line is derived from an avian leukosis virus (ALV)-induced bursal lymphoma. The ALV was injected intravenously into Hyline SC chickens and a resulting tumor was twice transplanted in vivo prior to cell culturing (Baba and Humphries, 1984; Baba et al., 1985). The DT40 cells are small, approximately 10 ?m in diameter, and have a high nucleus to cytoplasm ratio (Fig. 1). They carry IgM on the surface, and although Baba et al. (1985) did not find evidence of secreted IgM, others have (Takagaki et al., 1996; Takami et al., 1999). DT40 cells do release ALV into the surroundings, but in negligible amounts (Baba et al., 1985). In keeping with the observation that nearly 85% of all ALV-induced tumors are disrupted in the c-myc locus, the DT40 cells have integrated the 3? viral long terminal repeat (LTR) upstream of the c-myc gene ( Hayward et al., 1981). The 3? LTR is in the same orientation as c-myc, elevating the transcription levels 100-fold in this cell line compared with normal avian bursal cells ( Baba et al., 1985). Whereas Baba et al. (1985) detected a normal and an altered c-myc allele, Kim et al. (1990) reported a possible mitotic recombination event among the parental alleles, as they describe the loss of the normal c-myc allele and instead find two copies of the altered c-myc gene. DT40 cells continue to undergo gene conversion, as seen by testing for the presence or absence of various restriction sites within the light chain variable region ( Thompson et al., 1987). Although the DT40 cell line may best be characterized as being a bursal B cell line, the ongoing gene conversion and the fact that v-myc transformed cells can reconstitute an ablated bursa of Fabricius suggests, that the DT40 cell line is arrested at a bursal stem cell stage of differentiation ( Baba et al., 1985; Thompson et al., 1987; McCormack et al., 1991)." []	67560	\N	\N	EFO	0	EFO	DT40	DT40
EFO:0001640	EFO:0006274	\N	"" []	EFO:0006274	"The DT40 chicken B cell line is derived from an avian leukosis virus (ALV)-induced bursal lymphoma. The ALV was injected intravenously into Hyline SC chickens and a resulting tumor was twice transplanted in vivo prior to cell culturing (Baba and Humphries, 1984; Baba et al., 1985). The DT40 cells are small, approximately 10 ?m in diameter, and have a high nucleus to cytoplasm ratio (Fig. 1). They carry IgM on the surface, and although Baba et al. (1985) did not find evidence of secreted IgM, others have (Takagaki et al., 1996; Takami et al., 1999). DT40 cells do release ALV into the surroundings, but in negligible amounts (Baba et al., 1985). In keeping with the observation that nearly 85% of all ALV-induced tumors are disrupted in the c-myc locus, the DT40 cells have integrated the 3? viral long terminal repeat (LTR) upstream of the c-myc gene ( Hayward et al., 1981). The 3? LTR is in the same orientation as c-myc, elevating the transcription levels 100-fold in this cell line compared with normal avian bursal cells ( Baba et al., 1985). Whereas Baba et al. (1985) detected a normal and an altered c-myc allele, Kim et al. (1990) reported a possible mitotic recombination event among the parental alleles, as they describe the loss of the normal c-myc allele and instead find two copies of the altered c-myc gene. DT40 cells continue to undergo gene conversion, as seen by testing for the presence or absence of various restriction sites within the light chain variable region ( Thompson et al., 1987). Although the DT40 cell line may best be characterized as being a bursal B cell line, the ongoing gene conversion and the fact that v-myc transformed cells can reconstitute an ablated bursa of Fabricius suggests, that the DT40 cell line is arrested at a bursal stem cell stage of differentiation ( Baba et al., 1985; Thompson et al., 1987; McCormack et al., 1991)." []	209160	\N	\N	EFO	1	EFO	B cell derived cell line	DT40
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006274	"The DT40 chicken B cell line is derived from an avian leukosis virus (ALV)-induced bursal lymphoma. The ALV was injected intravenously into Hyline SC chickens and a resulting tumor was twice transplanted in vivo prior to cell culturing (Baba and Humphries, 1984; Baba et al., 1985). The DT40 cells are small, approximately 10 ?m in diameter, and have a high nucleus to cytoplasm ratio (Fig. 1). They carry IgM on the surface, and although Baba et al. (1985) did not find evidence of secreted IgM, others have (Takagaki et al., 1996; Takami et al., 1999). DT40 cells do release ALV into the surroundings, but in negligible amounts (Baba et al., 1985). In keeping with the observation that nearly 85% of all ALV-induced tumors are disrupted in the c-myc locus, the DT40 cells have integrated the 3? viral long terminal repeat (LTR) upstream of the c-myc gene ( Hayward et al., 1981). The 3? LTR is in the same orientation as c-myc, elevating the transcription levels 100-fold in this cell line compared with normal avian bursal cells ( Baba et al., 1985). Whereas Baba et al. (1985) detected a normal and an altered c-myc allele, Kim et al. (1990) reported a possible mitotic recombination event among the parental alleles, as they describe the loss of the normal c-myc allele and instead find two copies of the altered c-myc gene. DT40 cells continue to undergo gene conversion, as seen by testing for the presence or absence of various restriction sites within the light chain variable region ( Thompson et al., 1987). Although the DT40 cell line may best be characterized as being a bursal B cell line, the ongoing gene conversion and the fact that v-myc transformed cells can reconstitute an ablated bursa of Fabricius suggests, that the DT40 cell line is arrested at a bursal stem cell stage of differentiation ( Baba et al., 1985; Thompson et al., 1987; McCormack et al., 1991)." []	562337	\N	\N	EFO	2	EFO	cell line	DT40
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006274	"The DT40 chicken B cell line is derived from an avian leukosis virus (ALV)-induced bursal lymphoma. The ALV was injected intravenously into Hyline SC chickens and a resulting tumor was twice transplanted in vivo prior to cell culturing (Baba and Humphries, 1984; Baba et al., 1985). The DT40 cells are small, approximately 10 ?m in diameter, and have a high nucleus to cytoplasm ratio (Fig. 1). They carry IgM on the surface, and although Baba et al. (1985) did not find evidence of secreted IgM, others have (Takagaki et al., 1996; Takami et al., 1999). DT40 cells do release ALV into the surroundings, but in negligible amounts (Baba et al., 1985). In keeping with the observation that nearly 85% of all ALV-induced tumors are disrupted in the c-myc locus, the DT40 cells have integrated the 3? viral long terminal repeat (LTR) upstream of the c-myc gene ( Hayward et al., 1981). The 3? LTR is in the same orientation as c-myc, elevating the transcription levels 100-fold in this cell line compared with normal avian bursal cells ( Baba et al., 1985). Whereas Baba et al. (1985) detected a normal and an altered c-myc allele, Kim et al. (1990) reported a possible mitotic recombination event among the parental alleles, as they describe the loss of the normal c-myc allele and instead find two copies of the altered c-myc gene. DT40 cells continue to undergo gene conversion, as seen by testing for the presence or absence of various restriction sites within the light chain variable region ( Thompson et al., 1987). Although the DT40 cell line may best be characterized as being a bursal B cell line, the ongoing gene conversion and the fact that v-myc transformed cells can reconstitute an ablated bursa of Fabricius suggests, that the DT40 cell line is arrested at a bursal stem cell stage of differentiation ( Baba et al., 1985; Thompson et al., 1987; McCormack et al., 1991)." []	1143873	\N	\N	EFO	3	EFO	material entity	DT40
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006274	"The DT40 chicken B cell line is derived from an avian leukosis virus (ALV)-induced bursal lymphoma. The ALV was injected intravenously into Hyline SC chickens and a resulting tumor was twice transplanted in vivo prior to cell culturing (Baba and Humphries, 1984; Baba et al., 1985). The DT40 cells are small, approximately 10 ?m in diameter, and have a high nucleus to cytoplasm ratio (Fig. 1). They carry IgM on the surface, and although Baba et al. (1985) did not find evidence of secreted IgM, others have (Takagaki et al., 1996; Takami et al., 1999). DT40 cells do release ALV into the surroundings, but in negligible amounts (Baba et al., 1985). In keeping with the observation that nearly 85% of all ALV-induced tumors are disrupted in the c-myc locus, the DT40 cells have integrated the 3? viral long terminal repeat (LTR) upstream of the c-myc gene ( Hayward et al., 1981). The 3? LTR is in the same orientation as c-myc, elevating the transcription levels 100-fold in this cell line compared with normal avian bursal cells ( Baba et al., 1985). Whereas Baba et al. (1985) detected a normal and an altered c-myc allele, Kim et al. (1990) reported a possible mitotic recombination event among the parental alleles, as they describe the loss of the normal c-myc allele and instead find two copies of the altered c-myc gene. DT40 cells continue to undergo gene conversion, as seen by testing for the presence or absence of various restriction sites within the light chain variable region ( Thompson et al., 1987). Although the DT40 cell line may best be characterized as being a bursal B cell line, the ongoing gene conversion and the fact that v-myc transformed cells can reconstitute an ablated bursa of Fabricius suggests, that the DT40 cell line is arrested at a bursal stem cell stage of differentiation ( Baba et al., 1985; Thompson et al., 1987; McCormack et al., 1991)." []	2026503	\N	\N	EFO	4	EFO	experimental factor	DT40
EFO:0006275	\N	\N	"This is a derivative of one of several mouse embryonal stem cell (ES) lines developed by M. Hooper in 1987." []	EFO:0006275	"This is a derivative of one of several mouse embryonal stem cell (ES) lines developed by M. Hooper in 1987." []	67561	\N	\N	EFO	0	EFO	ES-E14TG2a	ES-E14TG2a
EFO:0002922	EFO:0006275	\N	"" []	EFO:0006275	"This is a derivative of one of several mouse embryonal stem cell (ES) lines developed by M. Hooper in 1987." []	209161	\N	\N	EFO	1	EFO	normal cell line	ES-E14TG2a
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006275	"This is a derivative of one of several mouse embryonal stem cell (ES) lines developed by M. Hooper in 1987." []	562338	\N	\N	EFO	2	EFO	cell line	ES-E14TG2a
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006275	"This is a derivative of one of several mouse embryonal stem cell (ES) lines developed by M. Hooper in 1987." []	1143874	\N	\N	EFO	3	EFO	material entity	ES-E14TG2a
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006275	"This is a derivative of one of several mouse embryonal stem cell (ES) lines developed by M. Hooper in 1987." []	2026504	\N	\N	EFO	4	EFO	experimental factor	ES-E14TG2a
EFO:0006276	\N	\N	"Clinically affected; ataxia; scoliosis; hypertrophic cardiomyopathy; slurred speech; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 650 and 1030 repeats; brother of GM15849 and GM15851, son of GM15847 and GM15848." []	EFO:0006276	"Clinically affected; ataxia; scoliosis; hypertrophic cardiomyopathy; slurred speech; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 650 and 1030 repeats; brother of GM15849 and GM15851, son of GM15847 and GM15848." []	67562	\N	\N	EFO	0	EFO	GM15850	GM15850
EFO:0001640	EFO:0006276	\N	"" []	EFO:0006276	"Clinically affected; ataxia; scoliosis; hypertrophic cardiomyopathy; slurred speech; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 650 and 1030 repeats; brother of GM15849 and GM15851, son of GM15847 and GM15848." []	209162	\N	\N	EFO	1	EFO	B cell derived cell line	GM15850
EFO:0002888	EFO:0006276	\N	"" []	EFO:0006276	"Clinically affected; ataxia; scoliosis; hypertrophic cardiomyopathy; slurred speech; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 650 and 1030 repeats; brother of GM15849 and GM15851, son of GM15847 and GM15848." []	209163	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15850
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006276	"Clinically affected; ataxia; scoliosis; hypertrophic cardiomyopathy; slurred speech; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 650 and 1030 repeats; brother of GM15849 and GM15851, son of GM15847 and GM15848." []	562339	\N	\N	EFO	2	EFO	cell line	GM15850
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006276	"Clinically affected; ataxia; scoliosis; hypertrophic cardiomyopathy; slurred speech; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 650 and 1030 repeats; brother of GM15849 and GM15851, son of GM15847 and GM15848." []	562340	\N	\N	EFO	2	EFO	cell line	GM15850
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006276	"Clinically affected; ataxia; scoliosis; hypertrophic cardiomyopathy; slurred speech; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 650 and 1030 repeats; brother of GM15849 and GM15851, son of GM15847 and GM15848." []	1143875	\N	\N	EFO	3	EFO	material entity	GM15850
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006276	"Clinically affected; ataxia; scoliosis; hypertrophic cardiomyopathy; slurred speech; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 650 and 1030 repeats; brother of GM15849 and GM15851, son of GM15847 and GM15848." []	2026505	\N	\N	EFO	4	EFO	experimental factor	GM15850
EFO:0006277	\N	\N	"Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850)." []	EFO:0006277	"Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850)." []	67563	\N	\N	EFO	0	EFO	GM15851	GM15851
EFO:0001640	EFO:0006277	\N	"" []	EFO:0006277	"Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850)." []	209164	\N	\N	EFO	1	EFO	B cell derived cell line	GM15851
EFO:0002888	EFO:0006277	\N	"" []	EFO:0006277	"Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850)." []	209165	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM15851
EFO:0002922	EFO:0006277	\N	"" []	EFO:0006277	"Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850)." []	209166	\N	\N	EFO	1	EFO	normal cell line	GM15851
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006277	"Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850)." []	562341	\N	\N	EFO	2	EFO	cell line	GM15851
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006277	"Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850)." []	562342	\N	\N	EFO	2	EFO	cell line	GM15851
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006277	"Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850)." []	562343	\N	\N	EFO	2	EFO	cell line	GM15851
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006277	"Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850)." []	1143876	\N	\N	EFO	3	EFO	material entity	GM15851
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006277	"Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850)." []	2026506	\N	\N	EFO	4	EFO	experimental factor	GM15851
EFO:0006278	\N	\N	"GM5659 primary fibroblasts were established from a skin biopsy of an apparently healthy donor" []	EFO:0006278	"GM5659 primary fibroblasts were established from a skin biopsy of an apparently healthy donor" []	67564	\N	\N	EFO	0	EFO	GM5659	GM5659
EFO:0002009	EFO:0006278	\N	"" []	EFO:0006278	"GM5659 primary fibroblasts were established from a skin biopsy of an apparently healthy donor" []	209167	\N	\N	EFO	1	EFO	fibroblast derived cell line	GM5659
EFO:0002888	EFO:0006278	\N	"" []	EFO:0006278	"GM5659 primary fibroblasts were established from a skin biopsy of an apparently healthy donor" []	209168	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM5659
EFO:0002922	EFO:0006278	\N	"" []	EFO:0006278	"GM5659 primary fibroblasts were established from a skin biopsy of an apparently healthy donor" []	209169	\N	\N	EFO	1	EFO	normal cell line	GM5659
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006278	"GM5659 primary fibroblasts were established from a skin biopsy of an apparently healthy donor" []	562344	\N	\N	EFO	2	EFO	cell line	GM5659
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006278	"GM5659 primary fibroblasts were established from a skin biopsy of an apparently healthy donor" []	562345	\N	\N	EFO	2	EFO	cell line	GM5659
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006278	"GM5659 primary fibroblasts were established from a skin biopsy of an apparently healthy donor" []	562346	\N	\N	EFO	2	EFO	cell line	GM5659
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006278	"GM5659 primary fibroblasts were established from a skin biopsy of an apparently healthy donor" []	1143877	\N	\N	EFO	3	EFO	material entity	GM5659
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006278	"GM5659 primary fibroblasts were established from a skin biopsy of an apparently healthy donor" []	2026507	\N	\N	EFO	4	EFO	experimental factor	GM5659
EFO:0006279	\N	\N	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	EFO:0006279	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	67565	\N	\N	EFO	0	EFO	HPAF1	HPAF1
EFO:0001641	EFO:0006279	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006279	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	209170	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HPAF1
EFO:0002888	EFO:0006279	\N	"" []	EFO:0006279	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	209171	\N	\N	EFO	1	EFO	Homo sapiens cell line	HPAF1
EFO:0002922	EFO:0006279	\N	"" []	EFO:0006279	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	209172	\N	\N	EFO	1	EFO	normal cell line	HPAF1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006279	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	562347	\N	\N	EFO	2	EFO	cell line	HPAF1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006279	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	562348	\N	\N	EFO	2	EFO	cell line	HPAF1
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006279	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	562349	\N	\N	EFO	2	EFO	cell line	HPAF1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006279	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	1143878	\N	\N	EFO	3	EFO	material entity	HPAF1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006279	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	2026508	\N	\N	EFO	4	EFO	experimental factor	HPAF1
EFO:0006280	\N	\N	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	EFO:0006280	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	67566	\N	\N	EFO	0	EFO	HPAM1	HPAM1
EFO:0001641	EFO:0006280	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006280	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	209173	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HPAM1
EFO:0002888	EFO:0006280	\N	"" []	EFO:0006280	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	209174	\N	\N	EFO	1	EFO	Homo sapiens cell line	HPAM1
EFO:0002922	EFO:0006280	\N	"" []	EFO:0006280	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	209175	\N	\N	EFO	1	EFO	normal cell line	HPAM1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006280	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	562350	\N	\N	EFO	2	EFO	cell line	HPAM1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006280	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	562351	\N	\N	EFO	2	EFO	cell line	HPAM1
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006280	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	562352	\N	\N	EFO	2	EFO	cell line	HPAM1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006280	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	1143879	\N	\N	EFO	3	EFO	material entity	HPAM1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006280	"Cell line is derived from the normal human parotid gland. The cell lines are propagated in serum-free medium comprised of keratinocyte basal medium supplemented with insulin (5 micrograms/ml), hydrocortisone (0.5 micrograms/ml),epidermal growth factor (EGF, 10 ng/ml), bovine pituitary extract (25 micrograms/ml), and antibiotics. Normal diploid karyotypes, lack transformed phenotypes and non-tumorigenic in nude mice. Produces tissue-specific proteins, i.e. ?-amylase 1, basic proline-rich protein, and cystatins; and expressed the corresponding genes as determined by RT-PCR analyses." []	2026509	\N	\N	EFO	4	EFO	experimental factor	HPAM1
EFO:0006281	\N	\N	"CD47-deficient T cell line derived from Jurkat cells (JinB8)" []	EFO:0006281	"CD47-deficient T cell line derived from Jurkat cells (JinB8)" []	67567	\N	\N	EFO	0	EFO	JinB8	JinB8
EFO:0002888	EFO:0006281	\N	"" []	EFO:0006281	"CD47-deficient T cell line derived from Jurkat cells (JinB8)" []	209176	\N	\N	EFO	1	EFO	Homo sapiens cell line	JinB8
EFO:0002937	EFO:0006281	\N	"" []	EFO:0006281	"CD47-deficient T cell line derived from Jurkat cells (JinB8)" []	209177	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	JinB8
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006281	"CD47-deficient T cell line derived from Jurkat cells (JinB8)" []	562353	\N	\N	EFO	2	EFO	cell line	JinB8
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006281	"CD47-deficient T cell line derived from Jurkat cells (JinB8)" []	562354	\N	\N	EFO	2	EFO	cancer cell line	JinB8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006281	"CD47-deficient T cell line derived from Jurkat cells (JinB8)" []	2026511	\N	\N	EFO	4	EFO	material entity	JinB8
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006281	"CD47-deficient T cell line derived from Jurkat cells (JinB8)" []	1143881	\N	\N	EFO	3	EFO	cell line	JinB8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006281	"CD47-deficient T cell line derived from Jurkat cells (JinB8)" []	2999669	\N	\N	EFO	5	EFO	experimental factor	JinB8
EFO:0006282	\N	\N	"KM12 is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	EFO:0006282	"KM12 is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	67568	\N	\N	EFO	0	EFO	KM12	KM12
BTO:0000797	\N	\N	"" []	EFO:0006282	"KM12 is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	194760	\N	\N	EFO	0	EFO	colonic cancer cell line	KM12
BTO:0003250	\N	\N	"" []	EFO:0006282	"KM12 is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	194761	\N	\N	EFO	0	EFO	colonic epithelium cell line	KM12
EFO:0001639	EFO:0006282	\N	"" []	EFO:0006282	"KM12 is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	209178	\N	\N	EFO	1	EFO	cancer cell line	KM12
EFO:0002888	EFO:0006282	\N	"" []	EFO:0006282	"KM12 is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	209179	\N	\N	EFO	1	EFO	Homo sapiens cell line	KM12
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006282	"KM12 is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	562355	\N	\N	EFO	2	EFO	cell line	KM12
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006282	"KM12 is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	562356	\N	\N	EFO	2	EFO	cell line	KM12
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006282	"KM12 is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	1143882	\N	\N	EFO	3	EFO	material entity	KM12
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006282	"KM12 is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	2026512	\N	\N	EFO	4	EFO	experimental factor	KM12
EFO:0006283	\N	\N	"" []	EFO:0006283	"" []	67569	\N	\N	EFO	0	EFO	KOPT-K1	KOPT-K1
EFO:0001639	EFO:0006283	\N	"" []	EFO:0006283	"" []	209180	\N	\N	EFO	1	EFO	cancer cell line	KOPT-K1
EFO:0002888	EFO:0006283	\N	"" []	EFO:0006283	"" []	209181	\N	\N	EFO	1	EFO	Homo sapiens cell line	KOPT-K1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006283	"" []	562357	\N	\N	EFO	2	EFO	cell line	KOPT-K1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006283	"" []	562358	\N	\N	EFO	2	EFO	cell line	KOPT-K1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006283	"" []	1143883	\N	\N	EFO	3	EFO	material entity	KOPT-K1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006283	"" []	2026513	\N	\N	EFO	4	EFO	experimental factor	KOPT-K1
EFO:0006284	\N	\N	"LOX-IMVI is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	EFO:0006284	"LOX-IMVI is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	67570	\N	\N	EFO	0	EFO	LOXIMVI	LOXIMVI
BTO:0000849	EFO:0006284	\N	"" []	EFO:0006284	"LOX-IMVI is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	209182	\N	\N	EFO	1	EFO	melanoma cell line	LOXIMVI
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006284	"LOX-IMVI is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	562359	\N	\N	EFO	2	EFO	cancer cell line	LOXIMVI
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006284	"LOX-IMVI is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	1143884	\N	\N	EFO	3	EFO	cell line	LOXIMVI
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006284	"LOX-IMVI is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	2026514	\N	\N	EFO	4	EFO	material entity	LOXIMVI
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006284	"LOX-IMVI is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." []	3178626	\N	\N	EFO	5	EFO	experimental factor	LOXIMVI
EFO:0006285	\N	\N	"Cell line grew spontaneously on two subsequent occasions from the peripheral blood (PB) of a patient with B-chronic lymphocytic leukemia (B-CLL) in prolymphocytoid transformation. The patient was EBV-seropositive, his leukemic cells were EBNA negative, but the spontaneously grown cell lines are EBNA-2 positive. MEC2 cells do not adhere and form large clumps. The doubling time of MEC2 is 31h." []	EFO:0006285	"Cell line grew spontaneously on two subsequent occasions from the peripheral blood (PB) of a patient with B-chronic lymphocytic leukemia (B-CLL) in prolymphocytoid transformation. The patient was EBV-seropositive, his leukemic cells were EBNA negative, but the spontaneously grown cell lines are EBNA-2 positive. MEC2 cells do not adhere and form large clumps. The doubling time of MEC2 is 31h." []	67571	\N	\N	EFO	0	EFO	MEC2	MEC2
EFO:0001640	EFO:0006285	\N	"" []	EFO:0006285	"Cell line grew spontaneously on two subsequent occasions from the peripheral blood (PB) of a patient with B-chronic lymphocytic leukemia (B-CLL) in prolymphocytoid transformation. The patient was EBV-seropositive, his leukemic cells were EBNA negative, but the spontaneously grown cell lines are EBNA-2 positive. MEC2 cells do not adhere and form large clumps. The doubling time of MEC2 is 31h." []	209183	\N	\N	EFO	1	EFO	B cell derived cell line	MEC2
EFO:0002888	EFO:0006285	\N	"" []	EFO:0006285	"Cell line grew spontaneously on two subsequent occasions from the peripheral blood (PB) of a patient with B-chronic lymphocytic leukemia (B-CLL) in prolymphocytoid transformation. The patient was EBV-seropositive, his leukemic cells were EBNA negative, but the spontaneously grown cell lines are EBNA-2 positive. MEC2 cells do not adhere and form large clumps. The doubling time of MEC2 is 31h." []	209184	\N	\N	EFO	1	EFO	Homo sapiens cell line	MEC2
EFO:0002937	EFO:0006285	\N	"" []	EFO:0006285	"Cell line grew spontaneously on two subsequent occasions from the peripheral blood (PB) of a patient with B-chronic lymphocytic leukemia (B-CLL) in prolymphocytoid transformation. The patient was EBV-seropositive, his leukemic cells were EBNA negative, but the spontaneously grown cell lines are EBNA-2 positive. MEC2 cells do not adhere and form large clumps. The doubling time of MEC2 is 31h." []	209185	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	MEC2
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006285	"Cell line grew spontaneously on two subsequent occasions from the peripheral blood (PB) of a patient with B-chronic lymphocytic leukemia (B-CLL) in prolymphocytoid transformation. The patient was EBV-seropositive, his leukemic cells were EBNA negative, but the spontaneously grown cell lines are EBNA-2 positive. MEC2 cells do not adhere and form large clumps. The doubling time of MEC2 is 31h." []	562360	\N	\N	EFO	2	EFO	cell line	MEC2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006285	"Cell line grew spontaneously on two subsequent occasions from the peripheral blood (PB) of a patient with B-chronic lymphocytic leukemia (B-CLL) in prolymphocytoid transformation. The patient was EBV-seropositive, his leukemic cells were EBNA negative, but the spontaneously grown cell lines are EBNA-2 positive. MEC2 cells do not adhere and form large clumps. The doubling time of MEC2 is 31h." []	562361	\N	\N	EFO	2	EFO	cell line	MEC2
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006285	"Cell line grew spontaneously on two subsequent occasions from the peripheral blood (PB) of a patient with B-chronic lymphocytic leukemia (B-CLL) in prolymphocytoid transformation. The patient was EBV-seropositive, his leukemic cells were EBNA negative, but the spontaneously grown cell lines are EBNA-2 positive. MEC2 cells do not adhere and form large clumps. The doubling time of MEC2 is 31h." []	562362	\N	\N	EFO	2	EFO	cancer cell line	MEC2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006285	"Cell line grew spontaneously on two subsequent occasions from the peripheral blood (PB) of a patient with B-chronic lymphocytic leukemia (B-CLL) in prolymphocytoid transformation. The patient was EBV-seropositive, his leukemic cells were EBNA negative, but the spontaneously grown cell lines are EBNA-2 positive. MEC2 cells do not adhere and form large clumps. The doubling time of MEC2 is 31h." []	2026516	\N	\N	EFO	4	EFO	material entity	MEC2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006285	"Cell line grew spontaneously on two subsequent occasions from the peripheral blood (PB) of a patient with B-chronic lymphocytic leukemia (B-CLL) in prolymphocytoid transformation. The patient was EBV-seropositive, his leukemic cells were EBNA negative, but the spontaneously grown cell lines are EBNA-2 positive. MEC2 cells do not adhere and form large clumps. The doubling time of MEC2 is 31h." []	1143886	\N	\N	EFO	3	EFO	cell line	MEC2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006285	"Cell line grew spontaneously on two subsequent occasions from the peripheral blood (PB) of a patient with B-chronic lymphocytic leukemia (B-CLL) in prolymphocytoid transformation. The patient was EBV-seropositive, his leukemic cells were EBNA negative, but the spontaneously grown cell lines are EBNA-2 positive. MEC2 cells do not adhere and form large clumps. The doubling time of MEC2 is 31h." []	2999670	\N	\N	EFO	5	EFO	experimental factor	MEC2
EFO:0006286	\N	\N	"" []	EFO:0006286	"" []	67572	\N	\N	EFO	0	EFO	MGC-803	MGC-803
EFO:0001639	EFO:0006286	\N	"" []	EFO:0006286	"" []	209186	\N	\N	EFO	1	EFO	cancer cell line	MGC-803
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006286	"" []	562363	\N	\N	EFO	2	EFO	cell line	MGC-803
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006286	"" []	1143887	\N	\N	EFO	3	EFO	material entity	MGC-803
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006286	"" []	2026517	\N	\N	EFO	4	EFO	experimental factor	MGC-803
EFO:0006287	\N	\N	"A monocytic cell line, termed Mono Mac, was established from peripheral blood of a patient with monoblastic leukemia. Two clones, designated Mono Mac I and Mono Mac 6, were isolated and both were assigned to the monocyte lineage on the basis of morphological, cytochemical and immunological criteria. Most importantly, the clones express NaF-sensitive non-specific-esterase, produce reactive oxygen and stain with MAb My4. Mono Mac 6, in addition, constitutively exhibits phagocytosis of antibody-coated erythrocytes in 80% of the cells and reacts with a panel of MAbs that are specific for mature monocytes, i.e., M42, LeuM3, 63D3, Mo2 and UCHMI. By contrast, the monoblastic cell lines U937 and THP-I are negative for all these markers. Only expression of My4 could be detected after differentiation induced by interferon-gamma (IFN-gamma). Similar treatment of Mono Mac I, however, resulted in staining with all the monocyte-specific MAbs mentioned above, while IFN-gamma treatment of Mono Mac 6 enhanced antigen expression. In addition, the cells showed an increased frequency of multinucleated cells with a rise from 4.8% to 21.9%. Mono Mac 6 appears to be the only one of the cell lines studied to constitutively express phenotypic and functional features of mature monocytes." []	EFO:0006287	"A monocytic cell line, termed Mono Mac, was established from peripheral blood of a patient with monoblastic leukemia. Two clones, designated Mono Mac I and Mono Mac 6, were isolated and both were assigned to the monocyte lineage on the basis of morphological, cytochemical and immunological criteria. Most importantly, the clones express NaF-sensitive non-specific-esterase, produce reactive oxygen and stain with MAb My4. Mono Mac 6, in addition, constitutively exhibits phagocytosis of antibody-coated erythrocytes in 80% of the cells and reacts with a panel of MAbs that are specific for mature monocytes, i.e., M42, LeuM3, 63D3, Mo2 and UCHMI. By contrast, the monoblastic cell lines U937 and THP-I are negative for all these markers. Only expression of My4 could be detected after differentiation induced by interferon-gamma (IFN-gamma). Similar treatment of Mono Mac I, however, resulted in staining with all the monocyte-specific MAbs mentioned above, while IFN-gamma treatment of Mono Mac 6 enhanced antigen expression. In addition, the cells showed an increased frequency of multinucleated cells with a rise from 4.8% to 21.9%. Mono Mac 6 appears to be the only one of the cell lines studied to constitutively express phenotypic and functional features of mature monocytes." []	67573	\N	\N	EFO	0	EFO	Mono Mac 6	Mono Mac 6
EFO:0002888	EFO:0006287	\N	"" []	EFO:0006287	"A monocytic cell line, termed Mono Mac, was established from peripheral blood of a patient with monoblastic leukemia. Two clones, designated Mono Mac I and Mono Mac 6, were isolated and both were assigned to the monocyte lineage on the basis of morphological, cytochemical and immunological criteria. Most importantly, the clones express NaF-sensitive non-specific-esterase, produce reactive oxygen and stain with MAb My4. Mono Mac 6, in addition, constitutively exhibits phagocytosis of antibody-coated erythrocytes in 80% of the cells and reacts with a panel of MAbs that are specific for mature monocytes, i.e., M42, LeuM3, 63D3, Mo2 and UCHMI. By contrast, the monoblastic cell lines U937 and THP-I are negative for all these markers. Only expression of My4 could be detected after differentiation induced by interferon-gamma (IFN-gamma). Similar treatment of Mono Mac I, however, resulted in staining with all the monocyte-specific MAbs mentioned above, while IFN-gamma treatment of Mono Mac 6 enhanced antigen expression. In addition, the cells showed an increased frequency of multinucleated cells with a rise from 4.8% to 21.9%. Mono Mac 6 appears to be the only one of the cell lines studied to constitutively express phenotypic and functional features of mature monocytes." []	209187	\N	\N	EFO	1	EFO	Homo sapiens cell line	Mono Mac 6
EFO:0002937	EFO:0006287	\N	"" []	EFO:0006287	"A monocytic cell line, termed Mono Mac, was established from peripheral blood of a patient with monoblastic leukemia. Two clones, designated Mono Mac I and Mono Mac 6, were isolated and both were assigned to the monocyte lineage on the basis of morphological, cytochemical and immunological criteria. Most importantly, the clones express NaF-sensitive non-specific-esterase, produce reactive oxygen and stain with MAb My4. Mono Mac 6, in addition, constitutively exhibits phagocytosis of antibody-coated erythrocytes in 80% of the cells and reacts with a panel of MAbs that are specific for mature monocytes, i.e., M42, LeuM3, 63D3, Mo2 and UCHMI. By contrast, the monoblastic cell lines U937 and THP-I are negative for all these markers. Only expression of My4 could be detected after differentiation induced by interferon-gamma (IFN-gamma). Similar treatment of Mono Mac I, however, resulted in staining with all the monocyte-specific MAbs mentioned above, while IFN-gamma treatment of Mono Mac 6 enhanced antigen expression. In addition, the cells showed an increased frequency of multinucleated cells with a rise from 4.8% to 21.9%. Mono Mac 6 appears to be the only one of the cell lines studied to constitutively express phenotypic and functional features of mature monocytes." []	209188	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	Mono Mac 6
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006287	"A monocytic cell line, termed Mono Mac, was established from peripheral blood of a patient with monoblastic leukemia. Two clones, designated Mono Mac I and Mono Mac 6, were isolated and both were assigned to the monocyte lineage on the basis of morphological, cytochemical and immunological criteria. Most importantly, the clones express NaF-sensitive non-specific-esterase, produce reactive oxygen and stain with MAb My4. Mono Mac 6, in addition, constitutively exhibits phagocytosis of antibody-coated erythrocytes in 80% of the cells and reacts with a panel of MAbs that are specific for mature monocytes, i.e., M42, LeuM3, 63D3, Mo2 and UCHMI. By contrast, the monoblastic cell lines U937 and THP-I are negative for all these markers. Only expression of My4 could be detected after differentiation induced by interferon-gamma (IFN-gamma). Similar treatment of Mono Mac I, however, resulted in staining with all the monocyte-specific MAbs mentioned above, while IFN-gamma treatment of Mono Mac 6 enhanced antigen expression. In addition, the cells showed an increased frequency of multinucleated cells with a rise from 4.8% to 21.9%. Mono Mac 6 appears to be the only one of the cell lines studied to constitutively express phenotypic and functional features of mature monocytes." []	562364	\N	\N	EFO	2	EFO	cell line	Mono Mac 6
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006287	"A monocytic cell line, termed Mono Mac, was established from peripheral blood of a patient with monoblastic leukemia. Two clones, designated Mono Mac I and Mono Mac 6, were isolated and both were assigned to the monocyte lineage on the basis of morphological, cytochemical and immunological criteria. Most importantly, the clones express NaF-sensitive non-specific-esterase, produce reactive oxygen and stain with MAb My4. Mono Mac 6, in addition, constitutively exhibits phagocytosis of antibody-coated erythrocytes in 80% of the cells and reacts with a panel of MAbs that are specific for mature monocytes, i.e., M42, LeuM3, 63D3, Mo2 and UCHMI. By contrast, the monoblastic cell lines U937 and THP-I are negative for all these markers. Only expression of My4 could be detected after differentiation induced by interferon-gamma (IFN-gamma). Similar treatment of Mono Mac I, however, resulted in staining with all the monocyte-specific MAbs mentioned above, while IFN-gamma treatment of Mono Mac 6 enhanced antigen expression. In addition, the cells showed an increased frequency of multinucleated cells with a rise from 4.8% to 21.9%. Mono Mac 6 appears to be the only one of the cell lines studied to constitutively express phenotypic and functional features of mature monocytes." []	562365	\N	\N	EFO	2	EFO	cancer cell line	Mono Mac 6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006287	"A monocytic cell line, termed Mono Mac, was established from peripheral blood of a patient with monoblastic leukemia. Two clones, designated Mono Mac I and Mono Mac 6, were isolated and both were assigned to the monocyte lineage on the basis of morphological, cytochemical and immunological criteria. Most importantly, the clones express NaF-sensitive non-specific-esterase, produce reactive oxygen and stain with MAb My4. Mono Mac 6, in addition, constitutively exhibits phagocytosis of antibody-coated erythrocytes in 80% of the cells and reacts with a panel of MAbs that are specific for mature monocytes, i.e., M42, LeuM3, 63D3, Mo2 and UCHMI. By contrast, the monoblastic cell lines U937 and THP-I are negative for all these markers. Only expression of My4 could be detected after differentiation induced by interferon-gamma (IFN-gamma). Similar treatment of Mono Mac I, however, resulted in staining with all the monocyte-specific MAbs mentioned above, while IFN-gamma treatment of Mono Mac 6 enhanced antigen expression. In addition, the cells showed an increased frequency of multinucleated cells with a rise from 4.8% to 21.9%. Mono Mac 6 appears to be the only one of the cell lines studied to constitutively express phenotypic and functional features of mature monocytes." []	2026519	\N	\N	EFO	4	EFO	material entity	Mono Mac 6
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006287	"A monocytic cell line, termed Mono Mac, was established from peripheral blood of a patient with monoblastic leukemia. Two clones, designated Mono Mac I and Mono Mac 6, were isolated and both were assigned to the monocyte lineage on the basis of morphological, cytochemical and immunological criteria. Most importantly, the clones express NaF-sensitive non-specific-esterase, produce reactive oxygen and stain with MAb My4. Mono Mac 6, in addition, constitutively exhibits phagocytosis of antibody-coated erythrocytes in 80% of the cells and reacts with a panel of MAbs that are specific for mature monocytes, i.e., M42, LeuM3, 63D3, Mo2 and UCHMI. By contrast, the monoblastic cell lines U937 and THP-I are negative for all these markers. Only expression of My4 could be detected after differentiation induced by interferon-gamma (IFN-gamma). Similar treatment of Mono Mac I, however, resulted in staining with all the monocyte-specific MAbs mentioned above, while IFN-gamma treatment of Mono Mac 6 enhanced antigen expression. In addition, the cells showed an increased frequency of multinucleated cells with a rise from 4.8% to 21.9%. Mono Mac 6 appears to be the only one of the cell lines studied to constitutively express phenotypic and functional features of mature monocytes." []	1143889	\N	\N	EFO	3	EFO	cell line	Mono Mac 6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006287	"A monocytic cell line, termed Mono Mac, was established from peripheral blood of a patient with monoblastic leukemia. Two clones, designated Mono Mac I and Mono Mac 6, were isolated and both were assigned to the monocyte lineage on the basis of morphological, cytochemical and immunological criteria. Most importantly, the clones express NaF-sensitive non-specific-esterase, produce reactive oxygen and stain with MAb My4. Mono Mac 6, in addition, constitutively exhibits phagocytosis of antibody-coated erythrocytes in 80% of the cells and reacts with a panel of MAbs that are specific for mature monocytes, i.e., M42, LeuM3, 63D3, Mo2 and UCHMI. By contrast, the monoblastic cell lines U937 and THP-I are negative for all these markers. Only expression of My4 could be detected after differentiation induced by interferon-gamma (IFN-gamma). Similar treatment of Mono Mac I, however, resulted in staining with all the monocyte-specific MAbs mentioned above, while IFN-gamma treatment of Mono Mac 6 enhanced antigen expression. In addition, the cells showed an increased frequency of multinucleated cells with a rise from 4.8% to 21.9%. Mono Mac 6 appears to be the only one of the cell lines studied to constitutively express phenotypic and functional features of mature monocytes." []	2999671	\N	\N	EFO	5	EFO	experimental factor	Mono Mac 6
EFO:0006288	\N	\N	"" []	EFO:0006288	"" []	67574	\N	\N	EFO	0	EFO	NF90-8	NF90-8
EFO:0001639	EFO:0006288	\N	"" []	EFO:0006288	"" []	209189	\N	\N	EFO	1	EFO	cancer cell line	NF90-8
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006288	"" []	562366	\N	\N	EFO	2	EFO	cell line	NF90-8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006288	"" []	1143890	\N	\N	EFO	3	EFO	material entity	NF90-8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006288	"" []	2026520	\N	\N	EFO	4	EFO	experimental factor	NF90-8
EFO:0006289	\N	\N	"established from the peripheral blood of a 57-year-old man with acute myeloid leukemia (AML FAB M4) at diagnosis in 1987; cells carry an NPM1 gene mutation (type A) and the DNMT3A R882C mutation." []	EFO:0006289	"established from the peripheral blood of a 57-year-old man with acute myeloid leukemia (AML FAB M4) at diagnosis in 1987; cells carry an NPM1 gene mutation (type A) and the DNMT3A R882C mutation." []	67575	\N	\N	EFO	0	EFO	OCI-AML3	OCI-AML3
EFO:0002937	EFO:0006289	\N	"" []	EFO:0006289	"established from the peripheral blood of a 57-year-old man with acute myeloid leukemia (AML FAB M4) at diagnosis in 1987; cells carry an NPM1 gene mutation (type A) and the DNMT3A R882C mutation." []	209190	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	OCI-AML3
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006289	"established from the peripheral blood of a 57-year-old man with acute myeloid leukemia (AML FAB M4) at diagnosis in 1987; cells carry an NPM1 gene mutation (type A) and the DNMT3A R882C mutation." []	562367	\N	\N	EFO	2	EFO	cancer cell line	OCI-AML3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006289	"established from the peripheral blood of a 57-year-old man with acute myeloid leukemia (AML FAB M4) at diagnosis in 1987; cells carry an NPM1 gene mutation (type A) and the DNMT3A R882C mutation." []	1143891	\N	\N	EFO	3	EFO	cell line	OCI-AML3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006289	"established from the peripheral blood of a 57-year-old man with acute myeloid leukemia (AML FAB M4) at diagnosis in 1987; cells carry an NPM1 gene mutation (type A) and the DNMT3A R882C mutation." []	2026521	\N	\N	EFO	4	EFO	material entity	OCI-AML3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006289	"established from the peripheral blood of a 57-year-old man with acute myeloid leukemia (AML FAB M4) at diagnosis in 1987; cells carry an NPM1 gene mutation (type A) and the DNMT3A R882C mutation." []	3178627	\N	\N	EFO	5	EFO	experimental factor	OCI-AML3
EFO:0006291	\N	\N	"A continuously growing cell line has been established from autopsy material taken from a primary liver carcinoma, a cancer which has a high incidence in Southern Africa. The cell line was initiated from multifocal areas of outgrowth in the primary culture, and adaptation to in vitro conditions was completed after 18 months. The cells resemble hepatocytes in culture, have a doubling time of 35 - 40 hours and a plating efficiency of 40 - 50%. No virus particles have been found in the cells by ultrastructural examination. The isozyme pattern and the karyology of the cells are human. The chromosome pattern is heteroploid (mean number 56) and there are marker chromosomes." []	EFO:0006291	"A continuously growing cell line has been established from autopsy material taken from a primary liver carcinoma, a cancer which has a high incidence in Southern Africa. The cell line was initiated from multifocal areas of outgrowth in the primary culture, and adaptation to in vitro conditions was completed after 18 months. The cells resemble hepatocytes in culture, have a doubling time of 35 - 40 hours and a plating efficiency of 40 - 50%. No virus particles have been found in the cells by ultrastructural examination. The isozyme pattern and the karyology of the cells are human. The chromosome pattern is heteroploid (mean number 56) and there are marker chromosomes." []	67576	\N	\N	EFO	0	EFO	PLC/PRF/5	PLC/PRF/5
EFO:0005216	EFO:0006291	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0006291	"A continuously growing cell line has been established from autopsy material taken from a primary liver carcinoma, a cancer which has a high incidence in Southern Africa. The cell line was initiated from multifocal areas of outgrowth in the primary culture, and adaptation to in vitro conditions was completed after 18 months. The cells resemble hepatocytes in culture, have a doubling time of 35 - 40 hours and a plating efficiency of 40 - 50%. No virus particles have been found in the cells by ultrastructural examination. The isozyme pattern and the karyology of the cells are human. The chromosome pattern is heteroploid (mean number 56) and there are marker chromosomes." []	209191	\N	\N	EFO	1	EFO	hepatoma cell line	PLC/PRF/5
EFO:0001639	EFO:0005216	\N	"" []	EFO:0006291	"A continuously growing cell line has been established from autopsy material taken from a primary liver carcinoma, a cancer which has a high incidence in Southern Africa. The cell line was initiated from multifocal areas of outgrowth in the primary culture, and adaptation to in vitro conditions was completed after 18 months. The cells resemble hepatocytes in culture, have a doubling time of 35 - 40 hours and a plating efficiency of 40 - 50%. No virus particles have been found in the cells by ultrastructural examination. The isozyme pattern and the karyology of the cells are human. The chromosome pattern is heteroploid (mean number 56) and there are marker chromosomes." []	562368	\N	\N	EFO	2	EFO	cancer cell line	PLC/PRF/5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006291	"A continuously growing cell line has been established from autopsy material taken from a primary liver carcinoma, a cancer which has a high incidence in Southern Africa. The cell line was initiated from multifocal areas of outgrowth in the primary culture, and adaptation to in vitro conditions was completed after 18 months. The cells resemble hepatocytes in culture, have a doubling time of 35 - 40 hours and a plating efficiency of 40 - 50%. No virus particles have been found in the cells by ultrastructural examination. The isozyme pattern and the karyology of the cells are human. The chromosome pattern is heteroploid (mean number 56) and there are marker chromosomes." []	1143892	\N	\N	EFO	3	EFO	cell line	PLC/PRF/5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006291	"A continuously growing cell line has been established from autopsy material taken from a primary liver carcinoma, a cancer which has a high incidence in Southern Africa. The cell line was initiated from multifocal areas of outgrowth in the primary culture, and adaptation to in vitro conditions was completed after 18 months. The cells resemble hepatocytes in culture, have a doubling time of 35 - 40 hours and a plating efficiency of 40 - 50%. No virus particles have been found in the cells by ultrastructural examination. The isozyme pattern and the karyology of the cells are human. The chromosome pattern is heteroploid (mean number 56) and there are marker chromosomes." []	2026522	\N	\N	EFO	4	EFO	material entity	PLC/PRF/5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006291	"A continuously growing cell line has been established from autopsy material taken from a primary liver carcinoma, a cancer which has a high incidence in Southern Africa. The cell line was initiated from multifocal areas of outgrowth in the primary culture, and adaptation to in vitro conditions was completed after 18 months. The cells resemble hepatocytes in culture, have a doubling time of 35 - 40 hours and a plating efficiency of 40 - 50%. No virus particles have been found in the cells by ultrastructural examination. The isozyme pattern and the karyology of the cells are human. The chromosome pattern is heteroploid (mean number 56) and there are marker chromosomes." []	3178628	\N	\N	EFO	5	EFO	experimental factor	PLC/PRF/5
EFO:0006292	\N	\N	"" []	EFO:0006292	"" []	67577	\N	\N	EFO	0	EFO	S462	S462
EFO:0001639	EFO:0006292	\N	"" []	EFO:0006292	"" []	209192	\N	\N	EFO	1	EFO	cancer cell line	S462
EFO:0002888	EFO:0006292	\N	"" []	EFO:0006292	"" []	209193	\N	\N	EFO	1	EFO	Homo sapiens cell line	S462
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006292	"" []	562369	\N	\N	EFO	2	EFO	cell line	S462
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006292	"" []	562370	\N	\N	EFO	2	EFO	cell line	S462
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006292	"" []	1143893	\N	\N	EFO	3	EFO	material entity	S462
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006292	"" []	2026523	\N	\N	EFO	4	EFO	experimental factor	S462
EFO:0006293	\N	\N	"Human gastric cancer cell line (SGC-7901) was established by Wang Long-Bao et al in cooperation with Shanghai No.6 People's hospital and other institutions in China. The cells were isolated from surgically resected metastatic lymph node from a female patient with stage 4 gastric cancer with remarkable peritoneal invasion. The shape was Borrman stage 3-4." []	EFO:0006293	"Human gastric cancer cell line (SGC-7901) was established by Wang Long-Bao et al in cooperation with Shanghai No.6 People's hospital and other institutions in China. The cells were isolated from surgically resected metastatic lymph node from a female patient with stage 4 gastric cancer with remarkable peritoneal invasion. The shape was Borrman stage 3-4." []	67578	\N	\N	EFO	0	EFO	SGC-7901	SGC-7901
EFO:0000322	EFO:0006293	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006293	"Human gastric cancer cell line (SGC-7901) was established by Wang Long-Bao et al in cooperation with Shanghai No.6 People's hospital and other institutions in China. The cells were isolated from surgically resected metastatic lymph node from a female patient with stage 4 gastric cancer with remarkable peritoneal invasion. The shape was Borrman stage 3-4." []	209194	\N	\N	EFO	1	EFO	cell line	SGC-7901
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006293	"Human gastric cancer cell line (SGC-7901) was established by Wang Long-Bao et al in cooperation with Shanghai No.6 People's hospital and other institutions in China. The cells were isolated from surgically resected metastatic lymph node from a female patient with stage 4 gastric cancer with remarkable peritoneal invasion. The shape was Borrman stage 3-4." []	562371	\N	\N	EFO	2	EFO	material entity	SGC-7901
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006293	"Human gastric cancer cell line (SGC-7901) was established by Wang Long-Bao et al in cooperation with Shanghai No.6 People's hospital and other institutions in China. The cells were isolated from surgically resected metastatic lymph node from a female patient with stage 4 gastric cancer with remarkable peritoneal invasion. The shape was Borrman stage 3-4." []	1143894	\N	\N	EFO	3	EFO	experimental factor	SGC-7901
EFO:0006294	\N	\N	"SH-EP is derived from SK-N-SH cell line. Cells of SH-EP are flattened in shape and do not have neuritic processes." []	EFO:0006294	"SH-EP is derived from SK-N-SH cell line. Cells of SH-EP are flattened in shape and do not have neuritic processes." []	67579	\N	\N	EFO	0	EFO	SHEP	SHEP
EFO:0001641	EFO:0006294	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006294	"SH-EP is derived from SK-N-SH cell line. Cells of SH-EP are flattened in shape and do not have neuritic processes." []	209195	\N	\N	EFO	1	EFO	epithelial cell derived cell line	SHEP
EFO:0002888	EFO:0006294	\N	"" []	EFO:0006294	"SH-EP is derived from SK-N-SH cell line. Cells of SH-EP are flattened in shape and do not have neuritic processes." []	209196	\N	\N	EFO	1	EFO	Homo sapiens cell line	SHEP
EFO:0005214	EFO:0006294	\N	"A cell line which is a model for neuroblastoma." []	EFO:0006294	"SH-EP is derived from SK-N-SH cell line. Cells of SH-EP are flattened in shape and do not have neuritic processes." []	209197	\N	\N	EFO	1	EFO	neuroblastoma cell line	SHEP
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006294	"SH-EP is derived from SK-N-SH cell line. Cells of SH-EP are flattened in shape and do not have neuritic processes." []	562372	\N	\N	EFO	2	EFO	cell line	SHEP
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006294	"SH-EP is derived from SK-N-SH cell line. Cells of SH-EP are flattened in shape and do not have neuritic processes." []	562373	\N	\N	EFO	2	EFO	cell line	SHEP
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006294	"SH-EP is derived from SK-N-SH cell line. Cells of SH-EP are flattened in shape and do not have neuritic processes." []	562374	\N	\N	EFO	2	EFO	cell line	SHEP
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006294	"SH-EP is derived from SK-N-SH cell line. Cells of SH-EP are flattened in shape and do not have neuritic processes." []	1143895	\N	\N	EFO	3	EFO	material entity	SHEP
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006294	"SH-EP is derived from SK-N-SH cell line. Cells of SH-EP are flattened in shape and do not have neuritic processes." []	2026524	\N	\N	EFO	4	EFO	experimental factor	SHEP
EFO:0006295	\N	\N	"" []	EFO:0006295	"" []	67580	\N	\N	EFO	0	EFO	ST88-14	ST88-14
EFO:0001639	EFO:0006295	\N	"" []	EFO:0006295	"" []	209198	\N	\N	EFO	1	EFO	cancer cell line	ST88-14
EFO:0002888	EFO:0006295	\N	"" []	EFO:0006295	"" []	209199	\N	\N	EFO	1	EFO	Homo sapiens cell line	ST88-14
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006295	"" []	562375	\N	\N	EFO	2	EFO	cell line	ST88-14
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006295	"" []	562376	\N	\N	EFO	2	EFO	cell line	ST88-14
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006295	"" []	1143896	\N	\N	EFO	3	EFO	material entity	ST88-14
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006295	"" []	2026525	\N	\N	EFO	4	EFO	experimental factor	ST88-14
EFO:0006296	\N	\N	"STS26T cells were derived from a sporadic MPNST and have functional neurofibromin" []	EFO:0006296	"STS26T cells were derived from a sporadic MPNST and have functional neurofibromin" []	67581	\N	\N	EFO	0	EFO	STS26T	STS26T
EFO:0001639	EFO:0006296	\N	"" []	EFO:0006296	"STS26T cells were derived from a sporadic MPNST and have functional neurofibromin" []	209200	\N	\N	EFO	1	EFO	cancer cell line	STS26T
EFO:0002888	EFO:0006296	\N	"" []	EFO:0006296	"STS26T cells were derived from a sporadic MPNST and have functional neurofibromin" []	209201	\N	\N	EFO	1	EFO	Homo sapiens cell line	STS26T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006296	"STS26T cells were derived from a sporadic MPNST and have functional neurofibromin" []	562377	\N	\N	EFO	2	EFO	cell line	STS26T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006296	"STS26T cells were derived from a sporadic MPNST and have functional neurofibromin" []	562378	\N	\N	EFO	2	EFO	cell line	STS26T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006296	"STS26T cells were derived from a sporadic MPNST and have functional neurofibromin" []	1143897	\N	\N	EFO	3	EFO	material entity	STS26T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006296	"STS26T cells were derived from a sporadic MPNST and have functional neurofibromin" []	2026526	\N	\N	EFO	4	EFO	experimental factor	STS26T
EFO:0006297	\N	\N	"derived from Swiss3T3 fibroblasts" []	EFO:0006297	"derived from Swiss3T3 fibroblasts" []	67582	\N	\N	EFO	0	EFO	Swiss19	Swiss19
EFO:0000322	EFO:0006297	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006297	"derived from Swiss3T3 fibroblasts" []	209202	\N	\N	EFO	1	EFO	cell line	Swiss19
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006297	"derived from Swiss3T3 fibroblasts" []	562379	\N	\N	EFO	2	EFO	material entity	Swiss19
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006297	"derived from Swiss3T3 fibroblasts" []	1143898	\N	\N	EFO	3	EFO	experimental factor	Swiss19
EFO:0006298	\N	\N	"derived from Swiss3T3 fibroblasts" []	EFO:0006298	"derived from Swiss3T3 fibroblasts" []	67583	\N	\N	EFO	0	EFO	Swiss2	Swiss2
EFO:0000322	EFO:0006298	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006298	"derived from Swiss3T3 fibroblasts" []	209203	\N	\N	EFO	1	EFO	cell line	Swiss2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006298	"derived from Swiss3T3 fibroblasts" []	562380	\N	\N	EFO	2	EFO	material entity	Swiss2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006298	"derived from Swiss3T3 fibroblasts" []	1143899	\N	\N	EFO	3	EFO	experimental factor	Swiss2
EFO:0006299	\N	\N	"derived from Swiss3T3 fibroblasts" []	EFO:0006299	"derived from Swiss3T3 fibroblasts" []	67584	\N	\N	EFO	0	EFO	Swiss22	Swiss22
EFO:0000322	EFO:0006299	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006299	"derived from Swiss3T3 fibroblasts" []	209204	\N	\N	EFO	1	EFO	cell line	Swiss22
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006299	"derived from Swiss3T3 fibroblasts" []	562381	\N	\N	EFO	2	EFO	material entity	Swiss22
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006299	"derived from Swiss3T3 fibroblasts" []	1143900	\N	\N	EFO	3	EFO	experimental factor	Swiss22
EFO:0006300	\N	\N	"derived from Swiss3T3 fibroblasts" []	EFO:0006300	"derived from Swiss3T3 fibroblasts" []	67585	\N	\N	EFO	0	EFO	Swiss3	Swiss3
EFO:0000322	EFO:0006300	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006300	"derived from Swiss3T3 fibroblasts" []	209205	\N	\N	EFO	1	EFO	cell line	Swiss3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006300	"derived from Swiss3T3 fibroblasts" []	562382	\N	\N	EFO	2	EFO	material entity	Swiss3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006300	"derived from Swiss3T3 fibroblasts" []	1143901	\N	\N	EFO	3	EFO	experimental factor	Swiss3
EFO:0006301	\N	\N	"derived from Swiss3T3 fibroblasts" []	EFO:0006301	"derived from Swiss3T3 fibroblasts" []	67586	\N	\N	EFO	0	EFO	Swiss5	Swiss5
EFO:0000322	EFO:0006301	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006301	"derived from Swiss3T3 fibroblasts" []	209206	\N	\N	EFO	1	EFO	cell line	Swiss5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006301	"derived from Swiss3T3 fibroblasts" []	562383	\N	\N	EFO	2	EFO	material entity	Swiss5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006301	"derived from Swiss3T3 fibroblasts" []	1143902	\N	\N	EFO	3	EFO	experimental factor	Swiss5
EFO:0006302	\N	\N	"derived from Swiss3T3 fibroblasts" []	EFO:0006302	"derived from Swiss3T3 fibroblasts" []	67587	\N	\N	EFO	0	EFO	Swiss8	Swiss8
EFO:0000322	EFO:0006302	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006302	"derived from Swiss3T3 fibroblasts" []	209207	\N	\N	EFO	1	EFO	cell line	Swiss8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006302	"derived from Swiss3T3 fibroblasts" []	562384	\N	\N	EFO	2	EFO	material entity	Swiss8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006302	"derived from Swiss3T3 fibroblasts" []	1143903	\N	\N	EFO	3	EFO	experimental factor	Swiss8
EFO:0006303	\N	\N	"derived from Swiss3T3 fibroblasts" []	EFO:0006303	"derived from Swiss3T3 fibroblasts" []	67588	\N	\N	EFO	0	EFO	Swiss9	Swiss9
EFO:0000322	EFO:0006303	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006303	"derived from Swiss3T3 fibroblasts" []	209208	\N	\N	EFO	1	EFO	cell line	Swiss9
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006303	"derived from Swiss3T3 fibroblasts" []	562385	\N	\N	EFO	2	EFO	material entity	Swiss9
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006303	"derived from Swiss3T3 fibroblasts" []	1143904	\N	\N	EFO	3	EFO	experimental factor	Swiss9
EFO:0006304	\N	\N	"The T265 cell line is widely used for cell culture studies of Schwann cells in MPNSTs. This cell line has characteristics consistent with Schwann cells that have been transformed into a malignant phenotype because of the loss of neurofibromin in the auto-somal-dominant condition NF1" []	EFO:0006304	"The T265 cell line is widely used for cell culture studies of Schwann cells in MPNSTs. This cell line has characteristics consistent with Schwann cells that have been transformed into a malignant phenotype because of the loss of neurofibromin in the auto-somal-dominant condition NF1" []	67589	\N	\N	EFO	0	EFO	T265	T265
EFO:0001639	EFO:0006304	\N	"" []	EFO:0006304	"The T265 cell line is widely used for cell culture studies of Schwann cells in MPNSTs. This cell line has characteristics consistent with Schwann cells that have been transformed into a malignant phenotype because of the loss of neurofibromin in the auto-somal-dominant condition NF1" []	209209	\N	\N	EFO	1	EFO	cancer cell line	T265
EFO:0002888	EFO:0006304	\N	"" []	EFO:0006304	"The T265 cell line is widely used for cell culture studies of Schwann cells in MPNSTs. This cell line has characteristics consistent with Schwann cells that have been transformed into a malignant phenotype because of the loss of neurofibromin in the auto-somal-dominant condition NF1" []	209210	\N	\N	EFO	1	EFO	Homo sapiens cell line	T265
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006304	"The T265 cell line is widely used for cell culture studies of Schwann cells in MPNSTs. This cell line has characteristics consistent with Schwann cells that have been transformed into a malignant phenotype because of the loss of neurofibromin in the auto-somal-dominant condition NF1" []	562386	\N	\N	EFO	2	EFO	cell line	T265
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006304	"The T265 cell line is widely used for cell culture studies of Schwann cells in MPNSTs. This cell line has characteristics consistent with Schwann cells that have been transformed into a malignant phenotype because of the loss of neurofibromin in the auto-somal-dominant condition NF1" []	562387	\N	\N	EFO	2	EFO	cell line	T265
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006304	"The T265 cell line is widely used for cell culture studies of Schwann cells in MPNSTs. This cell line has characteristics consistent with Schwann cells that have been transformed into a malignant phenotype because of the loss of neurofibromin in the auto-somal-dominant condition NF1" []	1143905	\N	\N	EFO	3	EFO	material entity	T265
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006304	"The T265 cell line is widely used for cell culture studies of Schwann cells in MPNSTs. This cell line has characteristics consistent with Schwann cells that have been transformed into a malignant phenotype because of the loss of neurofibromin in the auto-somal-dominant condition NF1" []	2026527	\N	\N	EFO	4	EFO	experimental factor	T265
EFO:0006305	\N	\N	"" []	EFO:0006305	"" []	67590	\N	\N	EFO	0	EFO	T87	T87
EFO:0002922	EFO:0006305	\N	"" []	EFO:0006305	"" []	209211	\N	\N	EFO	1	EFO	normal cell line	T87
EFO:0000322	EFO:0002922	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006305	"" []	562388	\N	\N	EFO	2	EFO	cell line	T87
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006305	"" []	1143906	\N	\N	EFO	3	EFO	material entity	T87
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006305	"" []	2026528	\N	\N	EFO	4	EFO	experimental factor	T87
EFO:0006306	\N	\N	"TUBO cells are a cloned line established in vitro from a BALB-neuT mouse mammary carcinoma. They display membrane class I H-2dMHC glycoproteins and rp185neu proteins. In BALB/c mice, r-p185 is a xenogeneic Ag that differs from mouse rp185 in <6% of the amino residues. Despite these differences, a challenge of 1 x 105 TUBO cells grew progressively in all BALB/c mice and gave rise to lobular carcinomas histologically similar to those that appear in BALB-neuT-transgenic mice. The reactive cell infiltrate associated with TUBO cell growth was marginal. No anti-TUBO cell CTL, nor IFN-gama, nor GM-CSF release were found when Spc from BALB/c mice bearing 3- or 10-mm mean TUBO tumors were tested immediately or after 6 days in in vitro restimulation with TUBO cells. Moreover, no anti-rp185 Ab were detected in the sera of tumor bearing mice. Despite their high membrane expression of the xenogeneic rp185, growing TUBO cells appear to trigger a marginal or no immune reaction in BALB/c mice." []	EFO:0006306	"TUBO cells are a cloned line established in vitro from a BALB-neuT mouse mammary carcinoma. They display membrane class I H-2dMHC glycoproteins and rp185neu proteins. In BALB/c mice, r-p185 is a xenogeneic Ag that differs from mouse rp185 in <6% of the amino residues. Despite these differences, a challenge of 1 x 105 TUBO cells grew progressively in all BALB/c mice and gave rise to lobular carcinomas histologically similar to those that appear in BALB-neuT-transgenic mice. The reactive cell infiltrate associated with TUBO cell growth was marginal. No anti-TUBO cell CTL, nor IFN-gama, nor GM-CSF release were found when Spc from BALB/c mice bearing 3- or 10-mm mean TUBO tumors were tested immediately or after 6 days in in vitro restimulation with TUBO cells. Moreover, no anti-rp185 Ab were detected in the sera of tumor bearing mice. Despite their high membrane expression of the xenogeneic rp185, growing TUBO cells appear to trigger a marginal or no immune reaction in BALB/c mice." []	67591	\N	\N	EFO	0	EFO	TUBO	TUBO
EFO:0002885	EFO:0006306	\N	"" []	EFO:0006306	"TUBO cells are a cloned line established in vitro from a BALB-neuT mouse mammary carcinoma. They display membrane class I H-2dMHC glycoproteins and rp185neu proteins. In BALB/c mice, r-p185 is a xenogeneic Ag that differs from mouse rp185 in <6% of the amino residues. Despite these differences, a challenge of 1 x 105 TUBO cells grew progressively in all BALB/c mice and gave rise to lobular carcinomas histologically similar to those that appear in BALB-neuT-transgenic mice. The reactive cell infiltrate associated with TUBO cell growth was marginal. No anti-TUBO cell CTL, nor IFN-gama, nor GM-CSF release were found when Spc from BALB/c mice bearing 3- or 10-mm mean TUBO tumors were tested immediately or after 6 days in in vitro restimulation with TUBO cells. Moreover, no anti-rp185 Ab were detected in the sera of tumor bearing mice. Despite their high membrane expression of the xenogeneic rp185, growing TUBO cells appear to trigger a marginal or no immune reaction in BALB/c mice." []	209212	\N	\N	EFO	1	EFO	breast cancer cell line	TUBO
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006306	"TUBO cells are a cloned line established in vitro from a BALB-neuT mouse mammary carcinoma. They display membrane class I H-2dMHC glycoproteins and rp185neu proteins. In BALB/c mice, r-p185 is a xenogeneic Ag that differs from mouse rp185 in <6% of the amino residues. Despite these differences, a challenge of 1 x 105 TUBO cells grew progressively in all BALB/c mice and gave rise to lobular carcinomas histologically similar to those that appear in BALB-neuT-transgenic mice. The reactive cell infiltrate associated with TUBO cell growth was marginal. No anti-TUBO cell CTL, nor IFN-gama, nor GM-CSF release were found when Spc from BALB/c mice bearing 3- or 10-mm mean TUBO tumors were tested immediately or after 6 days in in vitro restimulation with TUBO cells. Moreover, no anti-rp185 Ab were detected in the sera of tumor bearing mice. Despite their high membrane expression of the xenogeneic rp185, growing TUBO cells appear to trigger a marginal or no immune reaction in BALB/c mice." []	562389	\N	\N	EFO	2	EFO	cancer cell line	TUBO
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006306	"TUBO cells are a cloned line established in vitro from a BALB-neuT mouse mammary carcinoma. They display membrane class I H-2dMHC glycoproteins and rp185neu proteins. In BALB/c mice, r-p185 is a xenogeneic Ag that differs from mouse rp185 in <6% of the amino residues. Despite these differences, a challenge of 1 x 105 TUBO cells grew progressively in all BALB/c mice and gave rise to lobular carcinomas histologically similar to those that appear in BALB-neuT-transgenic mice. The reactive cell infiltrate associated with TUBO cell growth was marginal. No anti-TUBO cell CTL, nor IFN-gama, nor GM-CSF release were found when Spc from BALB/c mice bearing 3- or 10-mm mean TUBO tumors were tested immediately or after 6 days in in vitro restimulation with TUBO cells. Moreover, no anti-rp185 Ab were detected in the sera of tumor bearing mice. Despite their high membrane expression of the xenogeneic rp185, growing TUBO cells appear to trigger a marginal or no immune reaction in BALB/c mice." []	1143907	\N	\N	EFO	3	EFO	cell line	TUBO
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006306	"TUBO cells are a cloned line established in vitro from a BALB-neuT mouse mammary carcinoma. They display membrane class I H-2dMHC glycoproteins and rp185neu proteins. In BALB/c mice, r-p185 is a xenogeneic Ag that differs from mouse rp185 in <6% of the amino residues. Despite these differences, a challenge of 1 x 105 TUBO cells grew progressively in all BALB/c mice and gave rise to lobular carcinomas histologically similar to those that appear in BALB-neuT-transgenic mice. The reactive cell infiltrate associated with TUBO cell growth was marginal. No anti-TUBO cell CTL, nor IFN-gama, nor GM-CSF release were found when Spc from BALB/c mice bearing 3- or 10-mm mean TUBO tumors were tested immediately or after 6 days in in vitro restimulation with TUBO cells. Moreover, no anti-rp185 Ab were detected in the sera of tumor bearing mice. Despite their high membrane expression of the xenogeneic rp185, growing TUBO cells appear to trigger a marginal or no immune reaction in BALB/c mice." []	2026529	\N	\N	EFO	4	EFO	material entity	TUBO
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006306	"TUBO cells are a cloned line established in vitro from a BALB-neuT mouse mammary carcinoma. They display membrane class I H-2dMHC glycoproteins and rp185neu proteins. In BALB/c mice, r-p185 is a xenogeneic Ag that differs from mouse rp185 in <6% of the amino residues. Despite these differences, a challenge of 1 x 105 TUBO cells grew progressively in all BALB/c mice and gave rise to lobular carcinomas histologically similar to those that appear in BALB-neuT-transgenic mice. The reactive cell infiltrate associated with TUBO cell growth was marginal. No anti-TUBO cell CTL, nor IFN-gama, nor GM-CSF release were found when Spc from BALB/c mice bearing 3- or 10-mm mean TUBO tumors were tested immediately or after 6 days in in vitro restimulation with TUBO cells. Moreover, no anti-rp185 Ab were detected in the sera of tumor bearing mice. Despite their high membrane expression of the xenogeneic rp185, growing TUBO cells appear to trigger a marginal or no immune reaction in BALB/c mice." []	3178629	\N	\N	EFO	5	EFO	experimental factor	TUBO
EFO:0006307	\N	\N	"Cell line was established from a patient with essential thrombocytosis that transformed into acute leukemia. The patient's initial clinical presentation included skin and lymph node infiltrations that were taken for an angiosarcoma due to positivity for CD34, CD31, and von Willebrand factor on immunohistology. In addition to hematopoietic markers, leukemic cells expressed endothelial antigens such as CD62E, CD105, and bound Ulex europeus lectin-1. Immunocytochemistry revealed positive staining for vascular endothelial growth factor receptor type 2 (KDR), Tie-2/Tek, the angiopoietin receptor, and vascular endothelial cadherin. These results were confirmed by PCR analysis. Simultaneous staining for CD62E and FISH analysis showed that cells with endothelial characteristics belonged to the leukemia. FISH analysis of histologic sections of the lymph node infiltration confirmed this manifestation as part of the leukemic process. The derived cell line, UKE-1, forms colonies in soft agar and is tumorigenic in SCID mice." []	EFO:0006307	"Cell line was established from a patient with essential thrombocytosis that transformed into acute leukemia. The patient's initial clinical presentation included skin and lymph node infiltrations that were taken for an angiosarcoma due to positivity for CD34, CD31, and von Willebrand factor on immunohistology. In addition to hematopoietic markers, leukemic cells expressed endothelial antigens such as CD62E, CD105, and bound Ulex europeus lectin-1. Immunocytochemistry revealed positive staining for vascular endothelial growth factor receptor type 2 (KDR), Tie-2/Tek, the angiopoietin receptor, and vascular endothelial cadherin. These results were confirmed by PCR analysis. Simultaneous staining for CD62E and FISH analysis showed that cells with endothelial characteristics belonged to the leukemia. FISH analysis of histologic sections of the lymph node infiltration confirmed this manifestation as part of the leukemic process. The derived cell line, UKE-1, forms colonies in soft agar and is tumorigenic in SCID mice." []	67592	\N	\N	EFO	0	EFO	UKE1	UKE1
EFO:0002937	EFO:0006307	\N	"" []	EFO:0006307	"Cell line was established from a patient with essential thrombocytosis that transformed into acute leukemia. The patient's initial clinical presentation included skin and lymph node infiltrations that were taken for an angiosarcoma due to positivity for CD34, CD31, and von Willebrand factor on immunohistology. In addition to hematopoietic markers, leukemic cells expressed endothelial antigens such as CD62E, CD105, and bound Ulex europeus lectin-1. Immunocytochemistry revealed positive staining for vascular endothelial growth factor receptor type 2 (KDR), Tie-2/Tek, the angiopoietin receptor, and vascular endothelial cadherin. These results were confirmed by PCR analysis. Simultaneous staining for CD62E and FISH analysis showed that cells with endothelial characteristics belonged to the leukemia. FISH analysis of histologic sections of the lymph node infiltration confirmed this manifestation as part of the leukemic process. The derived cell line, UKE-1, forms colonies in soft agar and is tumorigenic in SCID mice." []	209213	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	UKE1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006307	"Cell line was established from a patient with essential thrombocytosis that transformed into acute leukemia. The patient's initial clinical presentation included skin and lymph node infiltrations that were taken for an angiosarcoma due to positivity for CD34, CD31, and von Willebrand factor on immunohistology. In addition to hematopoietic markers, leukemic cells expressed endothelial antigens such as CD62E, CD105, and bound Ulex europeus lectin-1. Immunocytochemistry revealed positive staining for vascular endothelial growth factor receptor type 2 (KDR), Tie-2/Tek, the angiopoietin receptor, and vascular endothelial cadherin. These results were confirmed by PCR analysis. Simultaneous staining for CD62E and FISH analysis showed that cells with endothelial characteristics belonged to the leukemia. FISH analysis of histologic sections of the lymph node infiltration confirmed this manifestation as part of the leukemic process. The derived cell line, UKE-1, forms colonies in soft agar and is tumorigenic in SCID mice." []	562390	\N	\N	EFO	2	EFO	cancer cell line	UKE1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006307	"Cell line was established from a patient with essential thrombocytosis that transformed into acute leukemia. The patient's initial clinical presentation included skin and lymph node infiltrations that were taken for an angiosarcoma due to positivity for CD34, CD31, and von Willebrand factor on immunohistology. In addition to hematopoietic markers, leukemic cells expressed endothelial antigens such as CD62E, CD105, and bound Ulex europeus lectin-1. Immunocytochemistry revealed positive staining for vascular endothelial growth factor receptor type 2 (KDR), Tie-2/Tek, the angiopoietin receptor, and vascular endothelial cadherin. These results were confirmed by PCR analysis. Simultaneous staining for CD62E and FISH analysis showed that cells with endothelial characteristics belonged to the leukemia. FISH analysis of histologic sections of the lymph node infiltration confirmed this manifestation as part of the leukemic process. The derived cell line, UKE-1, forms colonies in soft agar and is tumorigenic in SCID mice." []	1143908	\N	\N	EFO	3	EFO	cell line	UKE1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006307	"Cell line was established from a patient with essential thrombocytosis that transformed into acute leukemia. The patient's initial clinical presentation included skin and lymph node infiltrations that were taken for an angiosarcoma due to positivity for CD34, CD31, and von Willebrand factor on immunohistology. In addition to hematopoietic markers, leukemic cells expressed endothelial antigens such as CD62E, CD105, and bound Ulex europeus lectin-1. Immunocytochemistry revealed positive staining for vascular endothelial growth factor receptor type 2 (KDR), Tie-2/Tek, the angiopoietin receptor, and vascular endothelial cadherin. These results were confirmed by PCR analysis. Simultaneous staining for CD62E and FISH analysis showed that cells with endothelial characteristics belonged to the leukemia. FISH analysis of histologic sections of the lymph node infiltration confirmed this manifestation as part of the leukemic process. The derived cell line, UKE-1, forms colonies in soft agar and is tumorigenic in SCID mice." []	2026530	\N	\N	EFO	4	EFO	material entity	UKE1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006307	"Cell line was established from a patient with essential thrombocytosis that transformed into acute leukemia. The patient's initial clinical presentation included skin and lymph node infiltrations that were taken for an angiosarcoma due to positivity for CD34, CD31, and von Willebrand factor on immunohistology. In addition to hematopoietic markers, leukemic cells expressed endothelial antigens such as CD62E, CD105, and bound Ulex europeus lectin-1. Immunocytochemistry revealed positive staining for vascular endothelial growth factor receptor type 2 (KDR), Tie-2/Tek, the angiopoietin receptor, and vascular endothelial cadherin. These results were confirmed by PCR analysis. Simultaneous staining for CD62E and FISH analysis showed that cells with endothelial characteristics belonged to the leukemia. FISH analysis of histologic sections of the lymph node infiltration confirmed this manifestation as part of the leukemic process. The derived cell line, UKE-1, forms colonies in soft agar and is tumorigenic in SCID mice." []	3178630	\N	\N	EFO	5	EFO	experimental factor	UKE1
EFO:0006308	\N	\N	"Mouse embryonic stem cells from a male mouse embryo" []	EFO:0006308	"Mouse embryonic stem cells from a male mouse embryo" []	67593	\N	\N	EFO	0	EFO	V6.5	V6.5
EFO:0000322	EFO:0006308	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006308	"Mouse embryonic stem cells from a male mouse embryo" []	209214	\N	\N	EFO	1	EFO	cell line	V6.5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006308	"Mouse embryonic stem cells from a male mouse embryo" []	562391	\N	\N	EFO	2	EFO	material entity	V6.5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006308	"Mouse embryonic stem cells from a male mouse embryo" []	1143909	\N	\N	EFO	3	EFO	experimental factor	V6.5
EFO:0006309	\N	\N	"quantification of the protein plasminogen in a plasma sample" []	EFO:0006309	"quantification of the protein plasminogen in a plasma sample" []	67594	\N	\N	EFO	0	EFO	plasma plasminogen measurement	plasma plasminogen measurement
EFO:0004747	EFO:0006309	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006309	"quantification of the protein plasminogen in a plasma sample" []	209215	\N	\N	EFO	1	EFO	protein measurement	plasma plasminogen measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006309	"quantification of the protein plasminogen in a plasma sample" []	562392	\N	\N	EFO	2	EFO	measurement	plasma plasminogen measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006309	"quantification of the protein plasminogen in a plasma sample" []	1143910	\N	\N	EFO	3	EFO	information entity	plasma plasminogen measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006309	"quantification of the protein plasminogen in a plasma sample" []	2026531	\N	\N	EFO	4	EFO	experimental factor	plasma plasminogen measurement
EFO:0006312	\N	\N	"quantification of mitochondrial DNA in a sample, usually through genetic amplification of target genes by quantifiative real-time PCR" []	EFO:0006312	"quantification of mitochondrial DNA in a sample, usually through genetic amplification of target genes by quantifiative real-time PCR" []	67595	\N	\N	EFO	0	EFO	mitochondrial DNA measurement	mitochondrial DNA measurement
EFO:0001444	EFO:0006312	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006312	"quantification of mitochondrial DNA in a sample, usually through genetic amplification of target genes by quantifiative real-time PCR" []	209216	\N	\N	EFO	1	EFO	measurement	mitochondrial DNA measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006312	"quantification of mitochondrial DNA in a sample, usually through genetic amplification of target genes by quantifiative real-time PCR" []	562393	\N	\N	EFO	2	EFO	information entity	mitochondrial DNA measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006312	"quantification of mitochondrial DNA in a sample, usually through genetic amplification of target genes by quantifiative real-time PCR" []	1143911	\N	\N	EFO	3	EFO	experimental factor	mitochondrial DNA measurement
EFO:0006313	\N	\N	"inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment" []	EFO:0006313	"inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment" []	67596	\N	\N	EFO	0	EFO	chemotherapy-induced oral mucositis	chemotherapy-induced oral mucositis
EFO:0000524	EFO:0006313	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0006313	"inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment" []	209217	\N	\N	EFO	1	EFO	head disease	chemotherapy-induced oral mucositis
EFO:1001904	EFO:0006313	\N	"Inflammation of the mucous membranes of any of the structures in the mouth." []	EFO:0006313	"inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment" []	209218	\N	\N	EFO	1	EFO	oral mucositis	chemotherapy-induced oral mucositis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006313	"inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment" []	562394	\N	\N	EFO	2	EFO	disease	chemotherapy-induced oral mucositis
EFO:1001898	EFO:1001904	\N	"Mucositis is inflammation and damage of the mucous membranes lining the mouth and other parts of the gastrointestinal (GI) tract." []	EFO:0006313	"inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment" []	562395	\N	\N	EFO	2	EFO	mucositis	chemotherapy-induced oral mucositis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006313	"inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment" []	1143912	\N	\N	EFO	3	EFO	disposition	chemotherapy-induced oral mucositis
MP:0001845	EFO:1001898	\N	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	EFO:0006313	"inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment" []	1143913	\N	\N	EFO	3	EFO	inflammation	chemotherapy-induced oral mucositis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006313	"inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment" []	2026532	\N	\N	EFO	4	EFO	material property	chemotherapy-induced oral mucositis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006313	"inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment" []	3178631	\N	\N	EFO	5	EFO	experimental factor	chemotherapy-induced oral mucositis
EFO:0006314	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a high dose of the chemotherapy drug Melphalan" []	EFO:0006314	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a high dose of the chemotherapy drug Melphalan" []	67597	\N	\N	EFO	0	EFO	response to high-dose melphalan	response to high-dose melphalan
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0006314	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a high dose of the chemotherapy drug Melphalan" []	194762	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to high-dose melphalan
EFO:0006315	\N	\N	"pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine" []	EFO:0006315	"pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine" []	67598	\N	\N	EFO	0	EFO	thiopurine immunosuppressant-induced pancreatitis	thiopurine immunosuppressant-induced pancreatitis
EFO:0000278	EFO:0006315	\N	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	EFO:0006315	"pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine" []	209219	\N	\N	EFO	1	EFO	pancreatitis	thiopurine immunosuppressant-induced pancreatitis
EFO:0000405	EFO:0000278	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0006315	"pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine" []	562396	\N	\N	EFO	2	EFO	digestive system disease	thiopurine immunosuppressant-induced pancreatitis
EFO:0001379	EFO:0000278	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0006315	"pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine" []	562397	\N	\N	EFO	2	EFO	endocrine system disease	thiopurine immunosuppressant-induced pancreatitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006315	"pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine" []	1143914	\N	\N	EFO	3	EFO	disease	thiopurine immunosuppressant-induced pancreatitis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006315	"pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine" []	1143915	\N	\N	EFO	3	EFO	disease	thiopurine immunosuppressant-induced pancreatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006315	"pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine" []	2026533	\N	\N	EFO	4	EFO	disposition	thiopurine immunosuppressant-induced pancreatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006315	"pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine" []	3178632	\N	\N	EFO	5	EFO	material property	thiopurine immunosuppressant-induced pancreatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006315	"pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine" []	4388332	\N	\N	EFO	6	EFO	experimental factor	thiopurine immunosuppressant-induced pancreatitis
EFO:0006316	\N	\N	"mental process necessary for language acquisition in infancy" []	EFO:0006316	"mental process necessary for language acquisition in infancy" []	67599	\N	\N	EFO	0	EFO	infant expressive language ability	infant expressive language ability
EFO:0003925	EFO:0006316	\N	"Intellectual or mental process whereby an organism becomes aware of or obtains knowledge." []	EFO:0006316	"mental process necessary for language acquisition in infancy" []	209220	\N	\N	EFO	1	EFO	cognition	infant expressive language ability
EFO:0004323	EFO:0003925	\N	"Conceptual functions or thinking in all its forms." []	EFO:0006316	"mental process necessary for language acquisition in infancy" []	562398	\N	\N	EFO	2	EFO	mental process	infant expressive language ability
EFO:0006317	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with thiopurine" []	EFO:0006317	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with thiopurine" []	67600	\N	\N	EFO	0	EFO	response to thiopurine	response to thiopurine
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0006317	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with thiopurine" []	194763	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to thiopurine
EFO:0006318	\N	\N	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	67601	\N	\N	EFO	0	EFO	breast ductal adenocarcinoma	breast ductal adenocarcinoma
EFO:0000430	EFO:0006318	\N	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	209221	\N	\N	EFO	1	EFO	ductal adenocarcinoma	breast ductal adenocarcinoma
EFO:0003869	EFO:0006318	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	209222	\N	\N	EFO	1	EFO	breast neoplasm	breast ductal adenocarcinoma
EFO:0000228	EFO:0000430	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	562399	\N	\N	EFO	2	EFO	adenocarcinoma	breast ductal adenocarcinoma
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	562400	\N	\N	EFO	2	EFO	neoplasm	breast ductal adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	1143916	\N	\N	EFO	3	EFO	carcinoma	breast ductal adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	4388333	\N	\N	EFO	6	EFO	disease	breast ductal adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	2026534	\N	\N	EFO	4	EFO	cancer	breast ductal adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	2026535	\N	\N	EFO	4	EFO	epithelial neoplasm	breast ductal adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	5028342	\N	\N	EFO	7	EFO	disposition	breast ductal adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	3178633	\N	\N	EFO	5	EFO	neoplasm	breast ductal adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	3178634	\N	\N	EFO	5	EFO	neoplasm	breast ductal adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	5817373	\N	\N	EFO	8	EFO	material property	breast ductal adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006318	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	6409752	\N	\N	EFO	9	EFO	experimental factor	breast ductal adenocarcinoma
EFO:0006319	\N	\N	"plasma HIV1 RNA levels at a specific point in time, eg before or after initiation of anti-retroviral therapy" []	EFO:0006319	"plasma HIV1 RNA levels at a specific point in time, eg before or after initiation of anti-retroviral therapy" []	67602	\N	\N	EFO	0	EFO	HIV viral set point measurement	HIV viral set point measurement
EFO:0006843	EFO:0006319	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0006319	"plasma HIV1 RNA levels at a specific point in time, eg before or after initiation of anti-retroviral therapy" []	209223	\N	\N	EFO	1	EFO	infectious disease biomarker	HIV viral set point measurement
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006319	"plasma HIV1 RNA levels at a specific point in time, eg before or after initiation of anti-retroviral therapy" []	562401	\N	\N	EFO	2	EFO	measurement	HIV viral set point measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006319	"plasma HIV1 RNA levels at a specific point in time, eg before or after initiation of anti-retroviral therapy" []	1143918	\N	\N	EFO	3	EFO	information entity	HIV viral set point measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006319	"plasma HIV1 RNA levels at a specific point in time, eg before or after initiation of anti-retroviral therapy" []	2026537	\N	\N	EFO	4	EFO	experimental factor	HIV viral set point measurement
EFO:0006320	\N	\N	"any sign or symptom that is the direct result of treatment with antidepressant medication" []	EFO:0006320	"any sign or symptom that is the direct result of treatment with antidepressant medication" []	67603	\N	\N	EFO	0	EFO	antidepressant-induced side effect	antidepressant-induced side effect
EFO:0003765	EFO:0006320	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0006320	"any sign or symptom that is the direct result of treatment with antidepressant medication" []	209224	\N	\N	EFO	1	EFO	sign or symptom	antidepressant-induced side effect
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006320	"any sign or symptom that is the direct result of treatment with antidepressant medication" []	562402	\N	\N	EFO	2	EFO	phenotype	antidepressant-induced side effect
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006320	"any sign or symptom that is the direct result of treatment with antidepressant medication" []	1143919	\N	\N	EFO	3	EFO	quality	antidepressant-induced side effect
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006320	"any sign or symptom that is the direct result of treatment with antidepressant medication" []	2026538	\N	\N	EFO	4	EFO	material property	antidepressant-induced side effect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006320	"any sign or symptom that is the direct result of treatment with antidepressant medication" []	3178636	\N	\N	EFO	5	EFO	experimental factor	antidepressant-induced side effect
EFO:0006321	\N	\N	"dizziness that is the direct result of treatment with antidepressant medication" []	EFO:0006321	"dizziness that is the direct result of treatment with antidepressant medication" []	67604	\N	\N	EFO	0	EFO	antidepressant-induced dizziness	antidepressant-induced dizziness
EFO:0006320	EFO:0006321	\N	"any sign or symptom that is the direct result of treatment with antidepressant medication" []	EFO:0006321	"dizziness that is the direct result of treatment with antidepressant medication" []	209225	\N	\N	EFO	1	EFO	antidepressant-induced side effect	antidepressant-induced dizziness
EFO:0003765	EFO:0006320	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0006321	"dizziness that is the direct result of treatment with antidepressant medication" []	562403	\N	\N	EFO	2	EFO	sign or symptom	antidepressant-induced dizziness
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006321	"dizziness that is the direct result of treatment with antidepressant medication" []	1143920	\N	\N	EFO	3	EFO	phenotype	antidepressant-induced dizziness
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006321	"dizziness that is the direct result of treatment with antidepressant medication" []	2026539	\N	\N	EFO	4	EFO	quality	antidepressant-induced dizziness
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006321	"dizziness that is the direct result of treatment with antidepressant medication" []	3178637	\N	\N	EFO	5	EFO	material property	antidepressant-induced dizziness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006321	"dizziness that is the direct result of treatment with antidepressant medication" []	4388335	\N	\N	EFO	6	EFO	experimental factor	antidepressant-induced dizziness
EFO:0006322	\N	\N	"sexual dysfunction such as loss of sexual desire that is the direct result of treatment with antidepressant medication" []	EFO:0006322	"sexual dysfunction such as loss of sexual desire that is the direct result of treatment with antidepressant medication" []	67605	\N	\N	EFO	0	EFO	antidepressant-induced sexual dysfunction	antidepressant-induced sexual dysfunction
EFO:0006320	EFO:0006322	\N	"any sign or symptom that is the direct result of treatment with antidepressant medication" []	EFO:0006322	"sexual dysfunction such as loss of sexual desire that is the direct result of treatment with antidepressant medication" []	209226	\N	\N	EFO	1	EFO	antidepressant-induced side effect	antidepressant-induced sexual dysfunction
EFO:0003765	EFO:0006320	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0006322	"sexual dysfunction such as loss of sexual desire that is the direct result of treatment with antidepressant medication" []	562404	\N	\N	EFO	2	EFO	sign or symptom	antidepressant-induced sexual dysfunction
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006322	"sexual dysfunction such as loss of sexual desire that is the direct result of treatment with antidepressant medication" []	1143921	\N	\N	EFO	3	EFO	phenotype	antidepressant-induced sexual dysfunction
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006322	"sexual dysfunction such as loss of sexual desire that is the direct result of treatment with antidepressant medication" []	2026540	\N	\N	EFO	4	EFO	quality	antidepressant-induced sexual dysfunction
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006322	"sexual dysfunction such as loss of sexual desire that is the direct result of treatment with antidepressant medication" []	3178638	\N	\N	EFO	5	EFO	material property	antidepressant-induced sexual dysfunction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006322	"sexual dysfunction such as loss of sexual desire that is the direct result of treatment with antidepressant medication" []	4388336	\N	\N	EFO	6	EFO	experimental factor	antidepressant-induced sexual dysfunction
EFO:0006323	\N	\N	"visual impairment such as blurred vision that is the direct result of treatment with antidepressant medication" []	EFO:0006323	"visual impairment such as blurred vision that is the direct result of treatment with antidepressant medication" []	67606	\N	\N	EFO	0	EFO	antidepressant-induced visual impairment	antidepressant-induced visual impairment
EFO:0006320	EFO:0006323	\N	"any sign or symptom that is the direct result of treatment with antidepressant medication" []	EFO:0006323	"visual impairment such as blurred vision that is the direct result of treatment with antidepressant medication" []	209227	\N	\N	EFO	1	EFO	antidepressant-induced side effect	antidepressant-induced visual impairment
EFO:0003765	EFO:0006320	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0006323	"visual impairment such as blurred vision that is the direct result of treatment with antidepressant medication" []	562405	\N	\N	EFO	2	EFO	sign or symptom	antidepressant-induced visual impairment
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006323	"visual impairment such as blurred vision that is the direct result of treatment with antidepressant medication" []	1143922	\N	\N	EFO	3	EFO	phenotype	antidepressant-induced visual impairment
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006323	"visual impairment such as blurred vision that is the direct result of treatment with antidepressant medication" []	2026541	\N	\N	EFO	4	EFO	quality	antidepressant-induced visual impairment
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006323	"visual impairment such as blurred vision that is the direct result of treatment with antidepressant medication" []	3178639	\N	\N	EFO	5	EFO	material property	antidepressant-induced visual impairment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006323	"visual impairment such as blurred vision that is the direct result of treatment with antidepressant medication" []	4388337	\N	\N	EFO	6	EFO	experimental factor	antidepressant-induced visual impairment
EFO:0006324	\N	\N	"hearing impairment such as ringing in the ears that is the direct result of treatment with antidepressant medication" []	EFO:0006324	"hearing impairment such as ringing in the ears that is the direct result of treatment with antidepressant medication" []	67607	\N	\N	EFO	0	EFO	antidepressant-induced hearing impairment	antidepressant-induced hearing impairment
EFO:0006320	EFO:0006324	\N	"any sign or symptom that is the direct result of treatment with antidepressant medication" []	EFO:0006324	"hearing impairment such as ringing in the ears that is the direct result of treatment with antidepressant medication" []	209228	\N	\N	EFO	1	EFO	antidepressant-induced side effect	antidepressant-induced hearing impairment
EFO:0003765	EFO:0006320	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0006324	"hearing impairment such as ringing in the ears that is the direct result of treatment with antidepressant medication" []	562406	\N	\N	EFO	2	EFO	sign or symptom	antidepressant-induced hearing impairment
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006324	"hearing impairment such as ringing in the ears that is the direct result of treatment with antidepressant medication" []	1143923	\N	\N	EFO	3	EFO	phenotype	antidepressant-induced hearing impairment
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006324	"hearing impairment such as ringing in the ears that is the direct result of treatment with antidepressant medication" []	2026542	\N	\N	EFO	4	EFO	quality	antidepressant-induced hearing impairment
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006324	"hearing impairment such as ringing in the ears that is the direct result of treatment with antidepressant medication" []	3178640	\N	\N	EFO	5	EFO	material property	antidepressant-induced hearing impairment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006324	"hearing impairment such as ringing in the ears that is the direct result of treatment with antidepressant medication" []	4388338	\N	\N	EFO	6	EFO	experimental factor	antidepressant-induced hearing impairment
EFO:0006325	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a serotonin-norephinephrine reuptake inhibitor stimulus" []	EFO:0006325	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a serotonin-norephinephrine reuptake inhibitor stimulus" []	67608	\N	\N	EFO	0	EFO	response to serotonin-norephinephrine reuptake inhibitor	response to serotonin-norephinephrine reuptake inhibitor
GO:0036276	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antidepressant stimulus, a mood-stimulating drug." [CHEBI:35469, GOC:hp]	EFO:0006325	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a serotonin-norephinephrine reuptake inhibitor stimulus" []	194764	\N	gocheck_do_not_manually_annotate	EFO	0	EFO	response to antidepressant	response to serotonin-norephinephrine reuptake inhibitor
EFO:0006326	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bupropion stimulus" []	EFO:0006326	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bupropion stimulus" []	67609	\N	\N	EFO	0	EFO	response to bupropion	response to bupropion
EFO:0007870	EFO:0006326	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a norepinephrine-dopamine reuptake inhibitor stimulus. Norepinephrinedopamine reuptake inhibitors (NDRI) are a class of drugs that act as a reuptake inhibitor for the neurotransmitters norepinephrine and dopamine by blocking the action of the norepinephrine transporter (NET) and the dopamine transporter (DAT), respectively. This in turn leads to increased extracellular concentrations of both norepinephrine and dopamine and, therefore, an increase in adrenergic and dopaminergic neurotransmission." []	EFO:0006326	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bupropion stimulus" []	209229	\N	\N	EFO	1	EFO	response to norepinephrine-dopamine reuptake inhibitor	response to bupropion
EFO:0006327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sertraline stimulus" []	EFO:0006327	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sertraline stimulus" []	67610	\N	\N	EFO	0	EFO	response to sertraline	response to sertraline
EFO:0005658	EFO:0006327	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a selective serotonin reuptake inhibitor stimulus, a mood-stimulating drug." []	EFO:0006327	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sertraline stimulus" []	209230	\N	\N	EFO	1	EFO	response to selective serotonin reuptake inhibitor	response to sertraline
EFO:0006328	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a venlafaxine stimulus" []	EFO:0006328	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a venlafaxine stimulus" []	67611	\N	\N	EFO	0	EFO	response to venlafaxine	response to venlafaxine
EFO:0006325	EFO:0006328	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a serotonin-norephinephrine reuptake inhibitor stimulus" []	EFO:0006328	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a venlafaxine stimulus" []	209231	\N	\N	EFO	1	EFO	response to serotonin-norephinephrine reuptake inhibitor	response to venlafaxine
EFO:0006329	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a citalopram stimulus" []	EFO:0006329	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a citalopram stimulus" []	67612	\N	\N	EFO	0	EFO	response to citalopram	response to citalopram
EFO:0005658	EFO:0006329	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a selective serotonin reuptake inhibitor stimulus, a mood-stimulating drug." []	EFO:0006329	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a citalopram stimulus" []	209232	\N	\N	EFO	1	EFO	response to selective serotonin reuptake inhibitor	response to citalopram
EFO:0006330	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a buspirone stimulus" []	EFO:0006330	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a buspirone stimulus" []	67613	\N	\N	EFO	0	EFO	response to buspirone	response to buspirone
GO:0036276	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antidepressant stimulus, a mood-stimulating drug." [CHEBI:35469, GOC:hp]	EFO:0006330	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a buspirone stimulus" []	194765	\N	gocheck_do_not_manually_annotate	EFO	0	EFO	response to antidepressant	response to buspirone
EFO:0006331	\N	\N	"quantification of selenium in a sample" []	EFO:0006331	"quantification of selenium in a sample" []	67614	\N	\N	EFO	0	EFO	selenium measurement	selenium measurement
EFO:0001444	EFO:0006331	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006331	"quantification of selenium in a sample" []	209233	\N	\N	EFO	1	EFO	measurement	selenium measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006331	"quantification of selenium in a sample" []	562407	\N	\N	EFO	2	EFO	information entity	selenium measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006331	"quantification of selenium in a sample" []	1143924	\N	\N	EFO	3	EFO	experimental factor	selenium measurement
EFO:0006332	\N	\N	"quantification of the amount of iron in a blood sample used in the diagnosis of familial hemochromatosis" []	EFO:0006332	"quantification of the amount of iron in a blood sample used in the diagnosis of familial hemochromatosis" []	67615	\N	\N	EFO	0	EFO	serum iron measurement	serum iron measurement
EFO:0004461	EFO:0006332	\N	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	EFO:0006332	"quantification of the amount of iron in a blood sample used in the diagnosis of familial hemochromatosis" []	209234	\N	\N	EFO	1	EFO	iron biomarker measurement	serum iron measurement
EFO:0001444	EFO:0004461	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006332	"quantification of the amount of iron in a blood sample used in the diagnosis of familial hemochromatosis" []	562408	\N	\N	EFO	2	EFO	measurement	serum iron measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006332	"quantification of the amount of iron in a blood sample used in the diagnosis of familial hemochromatosis" []	1143925	\N	\N	EFO	3	EFO	information entity	serum iron measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006332	"quantification of the amount of iron in a blood sample used in the diagnosis of familial hemochromatosis" []	2026543	\N	\N	EFO	4	EFO	experimental factor	serum iron measurement
EFO:0006333	\N	\N	"The determination of the iron bound to transferrin in a sample." []	EFO:0006333	"The determination of the iron bound to transferrin in a sample." []	67616	\N	\N	EFO	0	EFO	transferrin saturation measurement	transferrin saturation measurement
EFO:0006332	EFO:0006333	\N	"quantification of the amount of iron in a blood sample used in the diagnosis of familial hemochromatosis" []	EFO:0006333	"The determination of the iron bound to transferrin in a sample." []	209235	\N	\N	EFO	1	EFO	serum iron measurement	transferrin saturation measurement
EFO:0004461	EFO:0006332	\N	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	EFO:0006333	"The determination of the iron bound to transferrin in a sample." []	562409	\N	\N	EFO	2	EFO	iron biomarker measurement	transferrin saturation measurement
EFO:0001444	EFO:0004461	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006333	"The determination of the iron bound to transferrin in a sample." []	1143926	\N	\N	EFO	3	EFO	measurement	transferrin saturation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006333	"The determination of the iron bound to transferrin in a sample." []	2026544	\N	\N	EFO	4	EFO	information entity	transferrin saturation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006333	"The determination of the iron bound to transferrin in a sample." []	3178641	\N	\N	EFO	5	EFO	experimental factor	transferrin saturation measurement
EFO:0006334	\N	\N	"The determination of the saturation of iron binding sites on serum transferrin proteins." []	EFO:0006334	"The determination of the saturation of iron binding sites on serum transferrin proteins." []	67617	\N	\N	EFO	0	EFO	total iron binding capacity	total iron binding capacity
EFO:0004461	EFO:0006334	\N	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	EFO:0006334	"The determination of the saturation of iron binding sites on serum transferrin proteins." []	209236	\N	\N	EFO	1	EFO	iron biomarker measurement	total iron binding capacity
EFO:0001444	EFO:0004461	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006334	"The determination of the saturation of iron binding sites on serum transferrin proteins." []	562410	\N	\N	EFO	2	EFO	measurement	total iron binding capacity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006334	"The determination of the saturation of iron binding sites on serum transferrin proteins." []	1143927	\N	\N	EFO	3	EFO	information entity	total iron binding capacity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006334	"The determination of the saturation of iron binding sites on serum transferrin proteins." []	2026545	\N	\N	EFO	4	EFO	experimental factor	total iron binding capacity
EFO:0006335	\N	\N	"The blood pressure during the contraction of the left ventricle of the heart." []	EFO:0006335	"The blood pressure during the contraction of the left ventricle of the heart." []	67618	\N	\N	EFO	0	EFO	systolic blood pressure	systolic blood pressure
EFO:0004325	EFO:0006335	\N	"PRESSUREof theBLOODon theARTERIESand otherBLOOD VESSELS." []	EFO:0006335	"The blood pressure during the contraction of the left ventricle of the heart." []	209237	\N	\N	EFO	1	EFO	blood pressure	systolic blood pressure
EFO:0004303	EFO:0004325	\N	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	EFO:0006335	"The blood pressure during the contraction of the left ventricle of the heart." []	562411	\N	\N	EFO	2	EFO	vital signs	systolic blood pressure
EFO:0001444	EFO:0004303	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006335	"The blood pressure during the contraction of the left ventricle of the heart." []	1143928	\N	\N	EFO	3	EFO	measurement	systolic blood pressure
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006335	"The blood pressure during the contraction of the left ventricle of the heart." []	2026546	\N	\N	EFO	4	EFO	information entity	systolic blood pressure
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006335	"The blood pressure during the contraction of the left ventricle of the heart." []	3178642	\N	\N	EFO	5	EFO	experimental factor	systolic blood pressure
EFO:0006336	\N	\N	"The blood pressure after the contraction of the heart while the chambers of the heart refill with blood." []	EFO:0006336	"The blood pressure after the contraction of the heart while the chambers of the heart refill with blood." []	67619	\N	\N	EFO	0	EFO	diastolic blood pressure	diastolic blood pressure
EFO:0004325	EFO:0006336	\N	"PRESSUREof theBLOODon theARTERIESand otherBLOOD VESSELS." []	EFO:0006336	"The blood pressure after the contraction of the heart while the chambers of the heart refill with blood." []	209238	\N	\N	EFO	1	EFO	blood pressure	diastolic blood pressure
EFO:0004303	EFO:0004325	\N	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	EFO:0006336	"The blood pressure after the contraction of the heart while the chambers of the heart refill with blood." []	562412	\N	\N	EFO	2	EFO	vital signs	diastolic blood pressure
EFO:0001444	EFO:0004303	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006336	"The blood pressure after the contraction of the heart while the chambers of the heart refill with blood." []	1143929	\N	\N	EFO	3	EFO	measurement	diastolic blood pressure
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006336	"The blood pressure after the contraction of the heart while the chambers of the heart refill with blood." []	2026547	\N	\N	EFO	4	EFO	information entity	diastolic blood pressure
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006336	"The blood pressure after the contraction of the heart while the chambers of the heart refill with blood." []	3178643	\N	\N	EFO	5	EFO	experimental factor	diastolic blood pressure
EFO:0006337	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an allopurinol stimulus" []	EFO:0006337	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an allopurinol stimulus" []	67620	\N	\N	EFO	0	EFO	response to allopurinol	response to allopurinol
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0006337	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an allopurinol stimulus" []	194766	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to allopurinol
EFO:0006338	\N	\N	"" []	EFO:0006338	"" []	67621	\N	\N	EFO	0	EFO	pit and fissure surface dental caries	pit and fissure surface dental caries
EFO:0003819	EFO:0006338	\N	"Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification." []	EFO:0006338	"" []	209239	\N	\N	EFO	1	EFO	dental caries	pit and fissure surface dental caries
EFO:0000524	EFO:0003819	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0006338	"" []	562413	\N	\N	EFO	2	EFO	head disease	pit and fissure surface dental caries
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006338	"" []	1143930	\N	\N	EFO	3	EFO	disease	pit and fissure surface dental caries
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006338	"" []	2026548	\N	\N	EFO	4	EFO	disposition	pit and fissure surface dental caries
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006338	"" []	3178644	\N	\N	EFO	5	EFO	material property	pit and fissure surface dental caries
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006338	"" []	4388339	\N	\N	EFO	6	EFO	experimental factor	pit and fissure surface dental caries
EFO:0006339	\N	\N	"" []	EFO:0006339	"" []	67622	\N	\N	EFO	0	EFO	smooth surface dental caries	smooth surface dental caries
EFO:0003819	EFO:0006339	\N	"Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification." []	EFO:0006339	"" []	209240	\N	\N	EFO	1	EFO	dental caries	smooth surface dental caries
EFO:0000524	EFO:0003819	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0006339	"" []	562414	\N	\N	EFO	2	EFO	head disease	smooth surface dental caries
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006339	"" []	1143931	\N	\N	EFO	3	EFO	disease	smooth surface dental caries
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006339	"" []	2026549	\N	\N	EFO	4	EFO	disposition	smooth surface dental caries
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006339	"" []	3178645	\N	\N	EFO	5	EFO	material property	smooth surface dental caries
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006339	"" []	4388340	\N	\N	EFO	6	EFO	experimental factor	smooth surface dental caries
EFO:0006340	\N	\N	"The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure." []	EFO:0006340	"The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure." []	67623	\N	\N	EFO	0	EFO	mean arterial pressure	mean arterial pressure
EFO:0004325	EFO:0006340	\N	"PRESSUREof theBLOODon theARTERIESand otherBLOOD VESSELS." []	EFO:0006340	"The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure." []	209241	\N	\N	EFO	1	EFO	blood pressure	mean arterial pressure
EFO:0004303	EFO:0004325	\N	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	EFO:0006340	"The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure." []	562415	\N	\N	EFO	2	EFO	vital signs	mean arterial pressure
EFO:0001444	EFO:0004303	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006340	"The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure." []	1143932	\N	\N	EFO	3	EFO	measurement	mean arterial pressure
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006340	"The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure." []	2026550	\N	\N	EFO	4	EFO	information entity	mean arterial pressure
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006340	"The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure." []	3178646	\N	\N	EFO	5	EFO	experimental factor	mean arterial pressure
EFO:0006341	\N	\N	"The determination of the amount of transferrin present in a sample." []	EFO:0006341	"The determination of the amount of transferrin present in a sample." []	67624	\N	\N	EFO	0	EFO	transferrin measurement	transferrin measurement
EFO:0004461	EFO:0006341	\N	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	EFO:0006341	"The determination of the amount of transferrin present in a sample." []	209242	\N	\N	EFO	1	EFO	iron biomarker measurement	transferrin measurement
EFO:0004747	EFO:0006341	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006341	"The determination of the amount of transferrin present in a sample." []	209243	\N	\N	EFO	1	EFO	protein measurement	transferrin measurement
EFO:0001444	EFO:0004461	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006341	"The determination of the amount of transferrin present in a sample." []	562416	\N	\N	EFO	2	EFO	measurement	transferrin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006341	"The determination of the amount of transferrin present in a sample." []	562417	\N	\N	EFO	2	EFO	measurement	transferrin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006341	"The determination of the amount of transferrin present in a sample." []	1143933	\N	\N	EFO	3	EFO	information entity	transferrin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006341	"The determination of the amount of transferrin present in a sample." []	2026551	\N	\N	EFO	4	EFO	experimental factor	transferrin measurement
EFO:0006342	\N	\N	"A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium." []	EFO:0006342	"A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium." []	67625	\N	\N	EFO	0	EFO	aggressive periodontitis	aggressive periodontitis
EFO:0000649	EFO:0006342	\N	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	EFO:0006342	"A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium." []	209244	\N	\N	EFO	1	EFO	periodontitis	aggressive periodontitis
EFO:0000524	EFO:0000649	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0006342	"A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium." []	562418	\N	\N	EFO	2	EFO	head disease	aggressive periodontitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006342	"A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium." []	1143934	\N	\N	EFO	3	EFO	disease	aggressive periodontitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006342	"A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium." []	2026552	\N	\N	EFO	4	EFO	disposition	aggressive periodontitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006342	"A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium." []	3178647	\N	\N	EFO	5	EFO	material property	aggressive periodontitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006342	"A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium." []	4388341	\N	\N	EFO	6	EFO	experimental factor	aggressive periodontitis
EFO:0006343	\N	\N	"Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people." []	EFO:0006343	"Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people." []	67626	\N	\N	EFO	0	EFO	chronic periodontitis	chronic periodontitis
EFO:0000649	EFO:0006343	\N	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	EFO:0006343	"Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people." []	209245	\N	\N	EFO	1	EFO	periodontitis	chronic periodontitis
EFO:0000524	EFO:0000649	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0006343	"Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people." []	562419	\N	\N	EFO	2	EFO	head disease	chronic periodontitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006343	"Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people." []	1143935	\N	\N	EFO	3	EFO	disease	chronic periodontitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006343	"Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people." []	2026553	\N	\N	EFO	4	EFO	disposition	chronic periodontitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006343	"Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people." []	3178648	\N	\N	EFO	5	EFO	material property	chronic periodontitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006343	"Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people." []	4388342	\N	\N	EFO	6	EFO	experimental factor	chronic periodontitis
EFO:0006344	\N	\N	"The duration of time from initiation to discontinuation of drug therapy. Voluntary cooperation of the patient in taking drugs or medicine as prescribed. This includes timing, dosage, and frequency." []	EFO:0006344	"The duration of time from initiation to discontinuation of drug therapy. Voluntary cooperation of the patient in taking drugs or medicine as prescribed. This includes timing, dosage, and frequency." []	67627	\N	\N	EFO	0	EFO	medication adherence behavior	medication adherence behavior
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0006344	"The duration of time from initiation to discontinuation of drug therapy. Voluntary cooperation of the patient in taking drugs or medicine as prescribed. This includes timing, dosage, and frequency." []	194767	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	medication adherence behavior
EFO:0006345	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a phenytoin stimulus, an anti-epileptic drug." []	EFO:0006345	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a phenytoin stimulus, an anti-epileptic drug." []	67628	\N	\N	EFO	0	EFO	response to phenytoin	response to phenytoin
GO:0036277	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anticonvulsant stimulus, a drug used to prevent seizures or reduce their severity." [CHEBI:35623, GOC:hp]	EFO:0006345	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a phenytoin stimulus, an anti-epileptic drug." []	194768	\N	gocheck_do_not_manually_annotate	EFO	0	EFO	response to anticonvulsant	response to phenytoin
EFO:0006346	\N	\N	"Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis." []	EFO:0006346	"Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis." []	67629	\N	\N	EFO	0	EFO	severe cutaneous adverse reaction	severe cutaneous adverse reaction
EFO:0000701	EFO:0006346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0006346	"Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis." []	209246	\N	\N	EFO	1	EFO	skin disease	severe cutaneous adverse reaction
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006346	"Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis." []	562420	\N	\N	EFO	2	EFO	disease	severe cutaneous adverse reaction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006346	"Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis." []	1143936	\N	\N	EFO	3	EFO	disposition	severe cutaneous adverse reaction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006346	"Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis." []	2026554	\N	\N	EFO	4	EFO	material property	severe cutaneous adverse reaction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006346	"Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis." []	3178649	\N	\N	EFO	5	EFO	experimental factor	severe cutaneous adverse reaction
EFO:0006347	\N	\N	"PAE is defined as PA/A >1. " []	EFO:0006347	"PAE is defined as PA/A >1. " []	67630	\N	\N	EFO	0	EFO	pulmonary artery enlargement	pulmonary artery enlargement
EFO:0003765	EFO:0006347	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0006347	"PAE is defined as PA/A >1. " []	209247	\N	\N	EFO	1	EFO	sign or symptom	pulmonary artery enlargement
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006347	"PAE is defined as PA/A >1. " []	562421	\N	\N	EFO	2	EFO	phenotype	pulmonary artery enlargement
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006347	"PAE is defined as PA/A >1. " []	1143937	\N	\N	EFO	3	EFO	quality	pulmonary artery enlargement
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006347	"PAE is defined as PA/A >1. " []	2026555	\N	\N	EFO	4	EFO	material property	pulmonary artery enlargement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006347	"PAE is defined as PA/A >1. " []	3178650	\N	\N	EFO	5	EFO	experimental factor	pulmonary artery enlargement
EFO:0006348	\N	\N	"The ratio of the diameter of the pulmonary artery to the diameter of the aorta (PA/A) as measured using CT." []	EFO:0006348	"The ratio of the diameter of the pulmonary artery to the diameter of the aorta (PA/A) as measured using CT." []	67631	\N	\N	EFO	0	EFO	pulmonary artery-aorta diameter ratio measurement	pulmonary artery-aorta diameter ratio measurement
EFO:0004298	EFO:0006348	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006348	"The ratio of the diameter of the pulmonary artery to the diameter of the aorta (PA/A) as measured using CT." []	209248	\N	\N	EFO	1	EFO	cardiovascular measurement	pulmonary artery-aorta diameter ratio measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006348	"The ratio of the diameter of the pulmonary artery to the diameter of the aorta (PA/A) as measured using CT." []	562422	\N	\N	EFO	2	EFO	measurement	pulmonary artery-aorta diameter ratio measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006348	"The ratio of the diameter of the pulmonary artery to the diameter of the aorta (PA/A) as measured using CT." []	1143938	\N	\N	EFO	3	EFO	information entity	pulmonary artery-aorta diameter ratio measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006348	"The ratio of the diameter of the pulmonary artery to the diameter of the aorta (PA/A) as measured using CT." []	2026556	\N	\N	EFO	4	EFO	experimental factor	pulmonary artery-aorta diameter ratio measurement
EFO:0006352	\N	\N	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	67632	\N	\N	EFO	0	EFO	laryngeal squamous cell carcinoma	laryngeal squamous cell carcinoma
EFO:0000181	EFO:0006352	\N	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	209249	\N	\N	EFO	1	EFO	head and neck squamous cell carcinoma	laryngeal squamous cell carcinoma
EFO:0003817	EFO:0006352	\N	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	209250	\N	\N	EFO	1	EFO	laryngeal neoplasm	laryngeal squamous cell carcinoma
EFO:0000707	EFO:0000181	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	562423	\N	\N	EFO	2	EFO	squamous cell carcinoma	laryngeal squamous cell carcinoma
EFO:0005950	EFO:0000181	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	562424	\N	\N	EFO	2	EFO	head and neck neoplasia	laryngeal squamous cell carcinoma
EFO:0003853	EFO:0003817	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	562425	\N	\N	EFO	2	EFO	respiratory system neoplasm	laryngeal squamous cell carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	1143939	\N	\N	EFO	3	EFO	carcinoma	laryngeal squamous cell carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	1143940	\N	\N	EFO	3	EFO	head disease	laryngeal squamous cell carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	1143941	\N	\N	EFO	3	EFO	neoplasm	laryngeal squamous cell carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	1143942	\N	\N	EFO	3	EFO	neoplasm	laryngeal squamous cell carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	1143943	\N	\N	EFO	3	EFO	respiratory system disease	laryngeal squamous cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	2026557	\N	\N	EFO	4	EFO	cancer	laryngeal squamous cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	2026558	\N	\N	EFO	4	EFO	epithelial neoplasm	laryngeal squamous cell carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	2026559	\N	\N	EFO	4	EFO	disease	laryngeal squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	4388343	\N	\N	EFO	6	EFO	disease	laryngeal squamous cell carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	2026561	\N	\N	EFO	4	EFO	disease	laryngeal squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	3178651	\N	\N	EFO	5	EFO	neoplasm	laryngeal squamous cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	3178652	\N	\N	EFO	5	EFO	neoplasm	laryngeal squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	5059362	\N	\N	EFO	7	EFO	disposition	laryngeal squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	5876542	\N	\N	EFO	8	EFO	material property	laryngeal squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006352	"A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." []	6469828	\N	\N	EFO	9	EFO	experimental factor	laryngeal squamous cell carcinoma
EFO:0006354	\N	\N	"Human chondrosarcoma cell line." []	EFO:0006354	"Human chondrosarcoma cell line." []	67633	\N	\N	EFO	0	EFO	105KC	105KC
EFO:0001639	EFO:0006354	\N	"" []	EFO:0006354	"Human chondrosarcoma cell line." []	209251	\N	\N	EFO	1	EFO	cancer cell line	105KC
EFO:0002888	EFO:0006354	\N	"" []	EFO:0006354	"Human chondrosarcoma cell line." []	209252	\N	\N	EFO	1	EFO	Homo sapiens cell line	105KC
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006354	"Human chondrosarcoma cell line." []	562426	\N	\N	EFO	2	EFO	cell line	105KC
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006354	"Human chondrosarcoma cell line." []	562427	\N	\N	EFO	2	EFO	cell line	105KC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006354	"Human chondrosarcoma cell line." []	1143944	\N	\N	EFO	3	EFO	material entity	105KC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006354	"Human chondrosarcoma cell line." []	2026562	\N	\N	EFO	4	EFO	experimental factor	105KC
EFO:0006355	\N	\N	"Human osteosarcoma cell line. ATCC catalog number CRL-8308" []	EFO:0006355	"Human osteosarcoma cell line. ATCC catalog number CRL-8308" []	67634	\N	\N	EFO	0	EFO	143B	143B
EFO:0001639	EFO:0006355	\N	"" []	EFO:0006355	"Human osteosarcoma cell line. ATCC catalog number CRL-8308" []	209253	\N	\N	EFO	1	EFO	cancer cell line	143B
EFO:0002888	EFO:0006355	\N	"" []	EFO:0006355	"Human osteosarcoma cell line. ATCC catalog number CRL-8308" []	209254	\N	\N	EFO	1	EFO	Homo sapiens cell line	143B
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006355	"Human osteosarcoma cell line. ATCC catalog number CRL-8308" []	562428	\N	\N	EFO	2	EFO	cell line	143B
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006355	"Human osteosarcoma cell line. ATCC catalog number CRL-8308" []	562429	\N	\N	EFO	2	EFO	cell line	143B
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006355	"Human osteosarcoma cell line. ATCC catalog number CRL-8308" []	1143945	\N	\N	EFO	3	EFO	material entity	143B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006355	"Human osteosarcoma cell line. ATCC catalog number CRL-8308" []	2026563	\N	\N	EFO	4	EFO	experimental factor	143B
EFO:0006356	\N	\N	"Human melanoma cell line" []	EFO:0006356	"Human melanoma cell line" []	67635	\N	\N	EFO	0	EFO	501A	501A
BTO:0000849	EFO:0006356	\N	"" []	EFO:0006356	"Human melanoma cell line" []	209255	\N	\N	EFO	1	EFO	melanoma cell line	501A
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006356	"Human melanoma cell line" []	562430	\N	\N	EFO	2	EFO	cancer cell line	501A
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006356	"Human melanoma cell line" []	1143946	\N	\N	EFO	3	EFO	cell line	501A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006356	"Human melanoma cell line" []	2026564	\N	\N	EFO	4	EFO	material entity	501A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006356	"Human melanoma cell line" []	3178654	\N	\N	EFO	5	EFO	experimental factor	501A
EFO:0006357	\N	\N	"Human melanoma cell line" []	EFO:0006357	"Human melanoma cell line" []	67636	\N	\N	EFO	0	EFO	537 MEL	537 MEL
BTO:0000849	EFO:0006357	\N	"" []	EFO:0006357	"Human melanoma cell line" []	209256	\N	\N	EFO	1	EFO	melanoma cell line	537 MEL
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006357	"Human melanoma cell line" []	562431	\N	\N	EFO	2	EFO	cancer cell line	537 MEL
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006357	"Human melanoma cell line" []	1143947	\N	\N	EFO	3	EFO	cell line	537 MEL
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006357	"Human melanoma cell line" []	2026565	\N	\N	EFO	4	EFO	material entity	537 MEL
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006357	"Human melanoma cell line" []	3178655	\N	\N	EFO	5	EFO	experimental factor	537 MEL
EFO:0006358	\N	\N	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 89081802)" []	EFO:0006358	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 89081802)" []	67637	\N	\N	EFO	0	EFO	59M	59M
EFO:0001641	EFO:0006358	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006358	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 89081802)" []	209257	\N	\N	EFO	1	EFO	epithelial cell derived cell line	59M
EFO:0002394	EFO:0006358	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006358	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 89081802)" []	209258	\N	\N	EFO	1	EFO	ovarian cancer cell lines	59M
EFO:0002888	EFO:0006358	\N	"" []	EFO:0006358	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 89081802)" []	209259	\N	\N	EFO	1	EFO	Homo sapiens cell line	59M
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006358	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 89081802)" []	562432	\N	\N	EFO	2	EFO	cell line	59M
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006358	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 89081802)" []	562433	\N	\N	EFO	2	EFO	cancer cell line	59M
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006358	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 89081802)" []	562434	\N	\N	EFO	2	EFO	cell line	59M
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006358	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 89081802)" []	2026567	\N	\N	EFO	4	EFO	material entity	59M
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006358	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 89081802)" []	1143949	\N	\N	EFO	3	EFO	cell line	59M
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006358	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 89081802)" []	2999672	\N	\N	EFO	5	EFO	experimental factor	59M
EFO:0006359	\N	\N	"Human melanoma cell line" []	EFO:0006359	"Human melanoma cell line" []	67638	\N	\N	EFO	0	EFO	624 mel	624 mel
BTO:0000849	EFO:0006359	\N	"" []	EFO:0006359	"Human melanoma cell line" []	209260	\N	\N	EFO	1	EFO	melanoma cell line	624 mel
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006359	"Human melanoma cell line" []	562435	\N	\N	EFO	2	EFO	cancer cell line	624 mel
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006359	"Human melanoma cell line" []	1143950	\N	\N	EFO	3	EFO	cell line	624 mel
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006359	"Human melanoma cell line" []	2026568	\N	\N	EFO	4	EFO	material entity	624 mel
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006359	"Human melanoma cell line" []	3178656	\N	\N	EFO	5	EFO	experimental factor	624 mel
EFO:0006360	\N	\N	"Human melanoma cell line" []	EFO:0006360	"Human melanoma cell line" []	67639	\N	\N	EFO	0	EFO	928 mel	928 mel
BTO:0000849	EFO:0006360	\N	"" []	EFO:0006360	"Human melanoma cell line" []	209261	\N	\N	EFO	1	EFO	melanoma cell line	928 mel
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006360	"Human melanoma cell line" []	562436	\N	\N	EFO	2	EFO	cancer cell line	928 mel
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006360	"Human melanoma cell line" []	1143951	\N	\N	EFO	3	EFO	cell line	928 mel
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006360	"Human melanoma cell line" []	2026569	\N	\N	EFO	4	EFO	material entity	928 mel
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006360	"Human melanoma cell line" []	3178657	\N	\N	EFO	5	EFO	experimental factor	928 mel
EFO:0006361	\N	\N	"Human melanoma cell line from 43-year-old male patient. ATCC catalog number CRL-11147." []	EFO:0006361	"Human melanoma cell line from 43-year-old male patient. ATCC catalog number CRL-11147." []	67640	\N	\N	EFO	0	EFO	A2058	A2058
BTO:0000849	EFO:0006361	\N	"" []	EFO:0006361	"Human melanoma cell line from 43-year-old male patient. ATCC catalog number CRL-11147." []	209262	\N	\N	EFO	1	EFO	melanoma cell line	A2058
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006361	"Human melanoma cell line from 43-year-old male patient. ATCC catalog number CRL-11147." []	562437	\N	\N	EFO	2	EFO	cancer cell line	A2058
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006361	"Human melanoma cell line from 43-year-old male patient. ATCC catalog number CRL-11147." []	1143952	\N	\N	EFO	3	EFO	cell line	A2058
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006361	"Human melanoma cell line from 43-year-old male patient. ATCC catalog number CRL-11147." []	2026570	\N	\N	EFO	4	EFO	material entity	A2058
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006361	"Human melanoma cell line from 43-year-old male patient. ATCC catalog number CRL-11147." []	3178658	\N	\N	EFO	5	EFO	experimental factor	A2058
EFO:0006362	\N	\N	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 93112519)" []	EFO:0006362	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 93112519)" []	67641	\N	\N	EFO	0	EFO	A2780	A2780
EFO:0002394	EFO:0006362	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006362	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 93112519)" []	209263	\N	\N	EFO	1	EFO	ovarian cancer cell lines	A2780
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006362	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 93112519)" []	562438	\N	\N	EFO	2	EFO	cancer cell line	A2780
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006362	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 93112519)" []	1143953	\N	\N	EFO	3	EFO	cell line	A2780
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006362	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 93112519)" []	2026571	\N	\N	EFO	4	EFO	material entity	A2780
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006362	"Human ovarian carcinoma cell line. (Sigma-Aldrich catalog number 93112519)" []	3178659	\N	\N	EFO	5	EFO	experimental factor	A2780
EFO:0006363	\N	\N	"Human colorectal carcinoma cell line" []	EFO:0006363	"Human colorectal carcinoma cell line" []	67642	\N	\N	EFO	0	EFO	C170	C170
BTO:0001616	\N	\N	"" []	EFO:0006363	"Human colorectal carcinoma cell line" []	194769	\N	\N	EFO	0	EFO	colorectal cancer cell line	C170
EFO:0006364	\N	\N	"Human melanoma cell line. ATCC catalog number CRL-1585" []	EFO:0006364	"Human melanoma cell line. ATCC catalog number CRL-1585" []	67643	\N	\N	EFO	0	EFO	C32	C32
BTO:0000849	EFO:0006364	\N	"" []	EFO:0006364	"Human melanoma cell line. ATCC catalog number CRL-1585" []	209264	\N	\N	EFO	1	EFO	melanoma cell line	C32
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006364	"Human melanoma cell line. ATCC catalog number CRL-1585" []	562439	\N	\N	EFO	2	EFO	cancer cell line	C32
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006364	"Human melanoma cell line. ATCC catalog number CRL-1585" []	1143954	\N	\N	EFO	3	EFO	cell line	C32
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006364	"Human melanoma cell line. ATCC catalog number CRL-1585" []	2026572	\N	\N	EFO	4	EFO	material entity	C32
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006364	"Human melanoma cell line. ATCC catalog number CRL-1585" []	3178660	\N	\N	EFO	5	EFO	experimental factor	C32
EFO:0006365	\N	\N	"Human prostate cancer cell line derived from subcutaneous LNCaP xenografts in castrated nude mice." []	EFO:0006365	"Human prostate cancer cell line derived from subcutaneous LNCaP xenografts in castrated nude mice." []	67644	\N	\N	EFO	0	EFO	C4-2B	C4-2B
EFO:0001639	EFO:0006365	\N	"" []	EFO:0006365	"Human prostate cancer cell line derived from subcutaneous LNCaP xenografts in castrated nude mice." []	209265	\N	\N	EFO	1	EFO	cancer cell line	C4-2B
EFO:0002888	EFO:0006365	\N	"" []	EFO:0006365	"Human prostate cancer cell line derived from subcutaneous LNCaP xenografts in castrated nude mice." []	209266	\N	\N	EFO	1	EFO	Homo sapiens cell line	C4-2B
EFO:0002891	EFO:0006365	\N	"Any cell line that is derived from the prostate." []	EFO:0006365	"Human prostate cancer cell line derived from subcutaneous LNCaP xenografts in castrated nude mice." []	209267	\N	\N	EFO	1	EFO	prostate derived cell line	C4-2B
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006365	"Human prostate cancer cell line derived from subcutaneous LNCaP xenografts in castrated nude mice." []	562440	\N	\N	EFO	2	EFO	cell line	C4-2B
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006365	"Human prostate cancer cell line derived from subcutaneous LNCaP xenografts in castrated nude mice." []	562441	\N	\N	EFO	2	EFO	cell line	C4-2B
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006365	"Human prostate cancer cell line derived from subcutaneous LNCaP xenografts in castrated nude mice." []	562442	\N	\N	EFO	2	EFO	cell line	C4-2B
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006365	"Human prostate cancer cell line derived from subcutaneous LNCaP xenografts in castrated nude mice." []	1143955	\N	\N	EFO	3	EFO	material entity	C4-2B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006365	"Human prostate cancer cell line derived from subcutaneous LNCaP xenografts in castrated nude mice." []	2026573	\N	\N	EFO	4	EFO	experimental factor	C4-2B
EFO:0006366	\N	\N	"Human squamous cell carcinoma cell line" []	EFO:0006366	"Human squamous cell carcinoma cell line" []	67645	\N	\N	EFO	0	EFO	CAL 27	CAL 27
EFO:0001639	EFO:0006366	\N	"" []	EFO:0006366	"Human squamous cell carcinoma cell line" []	209268	\N	\N	EFO	1	EFO	cancer cell line	CAL 27
EFO:0001641	EFO:0006366	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006366	"Human squamous cell carcinoma cell line" []	209269	\N	\N	EFO	1	EFO	epithelial cell derived cell line	CAL 27
EFO:0002888	EFO:0006366	\N	"" []	EFO:0006366	"Human squamous cell carcinoma cell line" []	209270	\N	\N	EFO	1	EFO	Homo sapiens cell line	CAL 27
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006366	"Human squamous cell carcinoma cell line" []	562443	\N	\N	EFO	2	EFO	cell line	CAL 27
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006366	"Human squamous cell carcinoma cell line" []	562444	\N	\N	EFO	2	EFO	cell line	CAL 27
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006366	"Human squamous cell carcinoma cell line" []	562445	\N	\N	EFO	2	EFO	cell line	CAL 27
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006366	"Human squamous cell carcinoma cell line" []	1143956	\N	\N	EFO	3	EFO	material entity	CAL 27
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006366	"Human squamous cell carcinoma cell line" []	2026574	\N	\N	EFO	4	EFO	experimental factor	CAL 27
EFO:0006367	\N	\N	"Human non-Hodgkin's lymphoma cell line (DSMZ catalog number ACC 570)" []	EFO:0006367	"Human non-Hodgkin's lymphoma cell line (DSMZ catalog number ACC 570)" []	67646	\N	\N	EFO	0	EFO	CI-1	CI-1
EFO:0002937	EFO:0006367	\N	"" []	EFO:0006367	"Human non-Hodgkin's lymphoma cell line (DSMZ catalog number ACC 570)" []	209271	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	CI-1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006367	"Human non-Hodgkin's lymphoma cell line (DSMZ catalog number ACC 570)" []	562446	\N	\N	EFO	2	EFO	cancer cell line	CI-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006367	"Human non-Hodgkin's lymphoma cell line (DSMZ catalog number ACC 570)" []	1143957	\N	\N	EFO	3	EFO	cell line	CI-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006367	"Human non-Hodgkin's lymphoma cell line (DSMZ catalog number ACC 570)" []	2026575	\N	\N	EFO	4	EFO	material entity	CI-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006367	"Human non-Hodgkin's lymphoma cell line (DSMZ catalog number ACC 570)" []	3178661	\N	\N	EFO	5	EFO	experimental factor	CI-1
EFO:0006368	\N	\N	"Human colon carcinoma cell line (DSMZ catalog number ACC 467)" []	EFO:0006368	"Human colon carcinoma cell line (DSMZ catalog number ACC 467)" []	67647	\N	\N	EFO	0	EFO	CL-11	CL-11
BTO:0001616	\N	\N	"" []	EFO:0006368	"Human colon carcinoma cell line (DSMZ catalog number ACC 467)" []	194770	\N	\N	EFO	0	EFO	colorectal cancer cell line	CL-11
EFO:0006369	\N	\N	"Human colon carcinoma cell line (DSMZ catalog number ACC 520)" []	EFO:0006369	"Human colon carcinoma cell line (DSMZ catalog number ACC 520)" []	67648	\N	\N	EFO	0	EFO	CL-34	CL-34
BTO:0001616	\N	\N	"" []	EFO:0006369	"Human colon carcinoma cell line (DSMZ catalog number ACC 520)" []	194771	\N	\N	EFO	0	EFO	colorectal cancer cell line	CL-34
EFO:0006370	\N	\N	"Human colon carcinoma cell line (DSMZ catalog number ACC 535)" []	EFO:0006370	"Human colon carcinoma cell line (DSMZ catalog number ACC 535)" []	67649	\N	\N	EFO	0	EFO	CL-40	CL-40
BTO:0001616	\N	\N	"" []	EFO:0006370	"Human colon carcinoma cell line (DSMZ catalog number ACC 535)" []	194772	\N	\N	EFO	0	EFO	colorectal cancer cell line	CL-40
EFO:0006371	\N	\N	"Human colon carcinoma cell line (DSMZ catalog number ACC 194)" []	EFO:0006371	"Human colon carcinoma cell line (DSMZ catalog number ACC 194)" []	67650	\N	\N	EFO	0	EFO	COLO 678	COLO 678
BTO:0001616	\N	\N	"" []	EFO:0006371	"Human colon carcinoma cell line (DSMZ catalog number ACC 194)" []	194773	\N	\N	EFO	0	EFO	colorectal cancer cell line	COLO 678
EFO:0006372	\N	\N	"Human melanoma cell line (Sigma-Aldrich catalog number 87061210)" []	EFO:0006372	"Human melanoma cell line (Sigma-Aldrich catalog number 87061210)" []	67651	\N	\N	EFO	0	EFO	COLO 679	COLO 679
BTO:0000849	EFO:0006372	\N	"" []	EFO:0006372	"Human melanoma cell line (Sigma-Aldrich catalog number 87061210)" []	209272	\N	\N	EFO	1	EFO	melanoma cell line	COLO 679
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006372	"Human melanoma cell line (Sigma-Aldrich catalog number 87061210)" []	562447	\N	\N	EFO	2	EFO	cancer cell line	COLO 679
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006372	"Human melanoma cell line (Sigma-Aldrich catalog number 87061210)" []	1143958	\N	\N	EFO	3	EFO	cell line	COLO 679
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006372	"Human melanoma cell line (Sigma-Aldrich catalog number 87061210)" []	2026576	\N	\N	EFO	4	EFO	material entity	COLO 679
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006372	"Human melanoma cell line (Sigma-Aldrich catalog number 87061210)" []	3178662	\N	\N	EFO	5	EFO	experimental factor	COLO 679
EFO:0006373	\N	\N	"Human squamous cell carcinoma cell line (DSMZ catalog number ACC 182)" []	EFO:0006373	"Human squamous cell carcinoma cell line (DSMZ catalog number ACC 182)" []	67652	\N	\N	EFO	0	EFO	COLO 680N	COLO 680N
EFO:0001639	EFO:0006373	\N	"" []	EFO:0006373	"Human squamous cell carcinoma cell line (DSMZ catalog number ACC 182)" []	209273	\N	\N	EFO	1	EFO	cancer cell line	COLO 680N
EFO:0001641	EFO:0006373	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006373	"Human squamous cell carcinoma cell line (DSMZ catalog number ACC 182)" []	209274	\N	\N	EFO	1	EFO	epithelial cell derived cell line	COLO 680N
EFO:0002888	EFO:0006373	\N	"" []	EFO:0006373	"Human squamous cell carcinoma cell line (DSMZ catalog number ACC 182)" []	209275	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO 680N
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006373	"Human squamous cell carcinoma cell line (DSMZ catalog number ACC 182)" []	562448	\N	\N	EFO	2	EFO	cell line	COLO 680N
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006373	"Human squamous cell carcinoma cell line (DSMZ catalog number ACC 182)" []	562449	\N	\N	EFO	2	EFO	cell line	COLO 680N
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006373	"Human squamous cell carcinoma cell line (DSMZ catalog number ACC 182)" []	562450	\N	\N	EFO	2	EFO	cell line	COLO 680N
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006373	"Human squamous cell carcinoma cell line (DSMZ catalog number ACC 182)" []	1143959	\N	\N	EFO	3	EFO	material entity	COLO 680N
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006373	"Human squamous cell carcinoma cell line (DSMZ catalog number ACC 182)" []	2026577	\N	\N	EFO	4	EFO	experimental factor	COLO 680N
EFO:0006374	\N	\N	"Human lung adenocarcinoma cell line (DSMZ catalog number ACC196)" []	EFO:0006374	"Human lung adenocarcinoma cell line (DSMZ catalog number ACC196)" []	67653	\N	\N	EFO	0	EFO	COLO 699	COLO 699
EFO:0002934	EFO:0006374	\N	"" []	EFO:0006374	"Human lung adenocarcinoma cell line (DSMZ catalog number ACC196)" []	209276	\N	\N	EFO	1	EFO	lung cancer cell line	COLO 699
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006374	"Human lung adenocarcinoma cell line (DSMZ catalog number ACC196)" []	562451	\N	\N	EFO	2	EFO	cancer cell line	COLO 699
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006374	"Human lung adenocarcinoma cell line (DSMZ catalog number ACC196)" []	1143960	\N	\N	EFO	3	EFO	cell line	COLO 699
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006374	"Human lung adenocarcinoma cell line (DSMZ catalog number ACC196)" []	2026578	\N	\N	EFO	4	EFO	material entity	COLO 699
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006374	"Human lung adenocarcinoma cell line (DSMZ catalog number ACC196)" []	3178663	\N	\N	EFO	5	EFO	experimental factor	COLO 699
EFO:0006375	\N	\N	"Derived from a pelvic wall metastasis of a 69 year old female with colon carcinoma. (Sigma-Aldrich catalog number 93052621)" []	EFO:0006375	"Derived from a pelvic wall metastasis of a 69 year old female with colon carcinoma. (Sigma-Aldrich catalog number 93052621)" []	67654	\N	\N	EFO	0	EFO	COLO 741	COLO 741
BTO:0001616	\N	\N	"" []	EFO:0006375	"Derived from a pelvic wall metastasis of a 69 year old female with colon carcinoma. (Sigma-Aldrich catalog number 93052621)" []	194774	\N	\N	EFO	0	EFO	colorectal cancer cell line	COLO 741
EFO:0006376	\N	\N	"Human melanoma cell line (DSMZ catalog number ACC257)" []	EFO:0006376	"Human melanoma cell line (DSMZ catalog number ACC257)" []	67655	\N	\N	EFO	0	EFO	COLO 783	COLO 783
BTO:0000849	EFO:0006376	\N	"" []	EFO:0006376	"Human melanoma cell line (DSMZ catalog number ACC257)" []	209277	\N	\N	EFO	1	EFO	melanoma cell line	COLO 783
EFO:0002009	EFO:0006376	\N	"" []	EFO:0006376	"Human melanoma cell line (DSMZ catalog number ACC257)" []	209278	\N	\N	EFO	1	EFO	fibroblast derived cell line	COLO 783
EFO:0002888	EFO:0006376	\N	"" []	EFO:0006376	"Human melanoma cell line (DSMZ catalog number ACC257)" []	209279	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO 783
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006376	"Human melanoma cell line (DSMZ catalog number ACC257)" []	562452	\N	\N	EFO	2	EFO	cancer cell line	COLO 783
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006376	"Human melanoma cell line (DSMZ catalog number ACC257)" []	562453	\N	\N	EFO	2	EFO	cell line	COLO 783
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006376	"Human melanoma cell line (DSMZ catalog number ACC257)" []	562454	\N	\N	EFO	2	EFO	cell line	COLO 783
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006376	"Human melanoma cell line (DSMZ catalog number ACC257)" []	1143961	\N	\N	EFO	3	EFO	cell line	COLO 783
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006376	"Human melanoma cell line (DSMZ catalog number ACC257)" []	2026579	\N	\N	EFO	4	EFO	material entity	COLO 783
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006376	"Human melanoma cell line (DSMZ catalog number ACC257)" []	2999673	\N	\N	EFO	5	EFO	experimental factor	COLO 783
EFO:0006377	\N	\N	"Derived from a brain metastasis of a 62 year old male with melanoma. The cells bleb during culture. (Sigma-Aldrich catalog number 93052616)" []	EFO:0006377	"Derived from a brain metastasis of a 62 year old male with melanoma. The cells bleb during culture. (Sigma-Aldrich catalog number 93052616)" []	67656	\N	\N	EFO	0	EFO	COLO 792	COLO 792
BTO:0000849	EFO:0006377	\N	"" []	EFO:0006377	"Derived from a brain metastasis of a 62 year old male with melanoma. The cells bleb during culture. (Sigma-Aldrich catalog number 93052616)" []	209280	\N	\N	EFO	1	EFO	melanoma cell line	COLO 792
EFO:0001641	EFO:0006377	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006377	"Derived from a brain metastasis of a 62 year old male with melanoma. The cells bleb during culture. (Sigma-Aldrich catalog number 93052616)" []	209281	\N	\N	EFO	1	EFO	epithelial cell derived cell line	COLO 792
EFO:0002888	EFO:0006377	\N	"" []	EFO:0006377	"Derived from a brain metastasis of a 62 year old male with melanoma. The cells bleb during culture. (Sigma-Aldrich catalog number 93052616)" []	209282	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO 792
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006377	"Derived from a brain metastasis of a 62 year old male with melanoma. The cells bleb during culture. (Sigma-Aldrich catalog number 93052616)" []	562455	\N	\N	EFO	2	EFO	cancer cell line	COLO 792
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006377	"Derived from a brain metastasis of a 62 year old male with melanoma. The cells bleb during culture. (Sigma-Aldrich catalog number 93052616)" []	562456	\N	\N	EFO	2	EFO	cell line	COLO 792
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006377	"Derived from a brain metastasis of a 62 year old male with melanoma. The cells bleb during culture. (Sigma-Aldrich catalog number 93052616)" []	562457	\N	\N	EFO	2	EFO	cell line	COLO 792
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006377	"Derived from a brain metastasis of a 62 year old male with melanoma. The cells bleb during culture. (Sigma-Aldrich catalog number 93052616)" []	1143963	\N	\N	EFO	3	EFO	cell line	COLO 792
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006377	"Derived from a brain metastasis of a 62 year old male with melanoma. The cells bleb during culture. (Sigma-Aldrich catalog number 93052616)" []	2026581	\N	\N	EFO	4	EFO	material entity	COLO 792
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006377	"Derived from a brain metastasis of a 62 year old male with melanoma. The cells bleb during culture. (Sigma-Aldrich catalog number 93052616)" []	2999674	\N	\N	EFO	5	EFO	experimental factor	COLO 792
EFO:0006378	\N	\N	"Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" []	EFO:0006378	"Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" []	67657	\N	\N	EFO	0	EFO	COLO 800	COLO 800
BTO:0000849	EFO:0006378	\N	"" []	EFO:0006378	"Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" []	209283	\N	\N	EFO	1	EFO	melanoma cell line	COLO 800
EFO:0002009	EFO:0006378	\N	"" []	EFO:0006378	"Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" []	209284	\N	\N	EFO	1	EFO	fibroblast derived cell line	COLO 800
EFO:0002888	EFO:0006378	\N	"" []	EFO:0006378	"Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" []	209285	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO 800
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006378	"Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" []	562458	\N	\N	EFO	2	EFO	cancer cell line	COLO 800
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006378	"Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" []	562459	\N	\N	EFO	2	EFO	cell line	COLO 800
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006378	"Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" []	562460	\N	\N	EFO	2	EFO	cell line	COLO 800
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006378	"Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" []	1143965	\N	\N	EFO	3	EFO	cell line	COLO 800
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006378	"Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" []	2026583	\N	\N	EFO	4	EFO	material entity	COLO 800
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006378	"Derived from a subcutaneous nodule of a tumour from a 14-year-old male. Cells display remarkable blebbing. (Sigma-Aldrich catalog number 93051123)" []	2999675	\N	\N	EFO	5	EFO	experimental factor	COLO 800
EFO:0006379	\N	\N	"derived in 1992 from right axillary lymph nodes of a 43-year-old Caucasian man with metastatic maligant melanoma (DSMZ catalog number ACC 216)" []	EFO:0006379	"derived in 1992 from right axillary lymph nodes of a 43-year-old Caucasian man with metastatic maligant melanoma (DSMZ catalog number ACC 216)" []	67658	\N	\N	EFO	0	EFO	COLO 849	COLO 849
BTO:0000849	EFO:0006379	\N	"" []	EFO:0006379	"derived in 1992 from right axillary lymph nodes of a 43-year-old Caucasian man with metastatic maligant melanoma (DSMZ catalog number ACC 216)" []	209286	\N	\N	EFO	1	EFO	melanoma cell line	COLO 849
EFO:0002009	EFO:0006379	\N	"" []	EFO:0006379	"derived in 1992 from right axillary lymph nodes of a 43-year-old Caucasian man with metastatic maligant melanoma (DSMZ catalog number ACC 216)" []	209287	\N	\N	EFO	1	EFO	fibroblast derived cell line	COLO 849
EFO:0002888	EFO:0006379	\N	"" []	EFO:0006379	"derived in 1992 from right axillary lymph nodes of a 43-year-old Caucasian man with metastatic maligant melanoma (DSMZ catalog number ACC 216)" []	209288	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO 849
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006379	"derived in 1992 from right axillary lymph nodes of a 43-year-old Caucasian man with metastatic maligant melanoma (DSMZ catalog number ACC 216)" []	562461	\N	\N	EFO	2	EFO	cancer cell line	COLO 849
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006379	"derived in 1992 from right axillary lymph nodes of a 43-year-old Caucasian man with metastatic maligant melanoma (DSMZ catalog number ACC 216)" []	562462	\N	\N	EFO	2	EFO	cell line	COLO 849
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006379	"derived in 1992 from right axillary lymph nodes of a 43-year-old Caucasian man with metastatic maligant melanoma (DSMZ catalog number ACC 216)" []	562463	\N	\N	EFO	2	EFO	cell line	COLO 849
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006379	"derived in 1992 from right axillary lymph nodes of a 43-year-old Caucasian man with metastatic maligant melanoma (DSMZ catalog number ACC 216)" []	1143967	\N	\N	EFO	3	EFO	cell line	COLO 849
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006379	"derived in 1992 from right axillary lymph nodes of a 43-year-old Caucasian man with metastatic maligant melanoma (DSMZ catalog number ACC 216)" []	2026585	\N	\N	EFO	4	EFO	material entity	COLO 849
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006379	"derived in 1992 from right axillary lymph nodes of a 43-year-old Caucasian man with metastatic maligant melanoma (DSMZ catalog number ACC 216)" []	2999676	\N	\N	EFO	5	EFO	experimental factor	COLO 849
EFO:0006380	\N	\N	"Derived from the right axilla lymph node of a 43 year old male with melanoma. (Sigma-Aldrich catalog number 93052606)" []	EFO:0006380	"Derived from the right axilla lymph node of a 43 year old male with melanoma. (Sigma-Aldrich catalog number 93052606)" []	67659	\N	\N	EFO	0	EFO	COLO 853	COLO 853
BTO:0000849	EFO:0006380	\N	"" []	EFO:0006380	"Derived from the right axilla lymph node of a 43 year old male with melanoma. (Sigma-Aldrich catalog number 93052606)" []	209289	\N	\N	EFO	1	EFO	melanoma cell line	COLO 853
EFO:0001641	EFO:0006380	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006380	"Derived from the right axilla lymph node of a 43 year old male with melanoma. (Sigma-Aldrich catalog number 93052606)" []	209290	\N	\N	EFO	1	EFO	epithelial cell derived cell line	COLO 853
EFO:0002888	EFO:0006380	\N	"" []	EFO:0006380	"Derived from the right axilla lymph node of a 43 year old male with melanoma. (Sigma-Aldrich catalog number 93052606)" []	209291	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO 853
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006380	"Derived from the right axilla lymph node of a 43 year old male with melanoma. (Sigma-Aldrich catalog number 93052606)" []	562464	\N	\N	EFO	2	EFO	cancer cell line	COLO 853
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006380	"Derived from the right axilla lymph node of a 43 year old male with melanoma. (Sigma-Aldrich catalog number 93052606)" []	562465	\N	\N	EFO	2	EFO	cell line	COLO 853
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006380	"Derived from the right axilla lymph node of a 43 year old male with melanoma. (Sigma-Aldrich catalog number 93052606)" []	562466	\N	\N	EFO	2	EFO	cell line	COLO 853
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006380	"Derived from the right axilla lymph node of a 43 year old male with melanoma. (Sigma-Aldrich catalog number 93052606)" []	1143969	\N	\N	EFO	3	EFO	cell line	COLO 853
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006380	"Derived from the right axilla lymph node of a 43 year old male with melanoma. (Sigma-Aldrich catalog number 93052606)" []	2026587	\N	\N	EFO	4	EFO	material entity	COLO 853
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006380	"Derived from the right axilla lymph node of a 43 year old male with melanoma. (Sigma-Aldrich catalog number 93052606)" []	2999677	\N	\N	EFO	5	EFO	experimental factor	COLO 853
EFO:0006381	\N	\N	"Derived from a right axilla lymph node of a 43 year old male with melanoma. The biopsy material was obtained post chemotherapy. (Sigma-Aldrich catalog number 93051120)" []	EFO:0006381	"Derived from a right axilla lymph node of a 43 year old male with melanoma. The biopsy material was obtained post chemotherapy. (Sigma-Aldrich catalog number 93051120)" []	67660	\N	\N	EFO	0	EFO	COLO 857	COLO 857
BTO:0000849	EFO:0006381	\N	"" []	EFO:0006381	"Derived from a right axilla lymph node of a 43 year old male with melanoma. The biopsy material was obtained post chemotherapy. (Sigma-Aldrich catalog number 93051120)" []	209292	\N	\N	EFO	1	EFO	melanoma cell line	COLO 857
EFO:0001641	EFO:0006381	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006381	"Derived from a right axilla lymph node of a 43 year old male with melanoma. The biopsy material was obtained post chemotherapy. (Sigma-Aldrich catalog number 93051120)" []	209293	\N	\N	EFO	1	EFO	epithelial cell derived cell line	COLO 857
EFO:0002888	EFO:0006381	\N	"" []	EFO:0006381	"Derived from a right axilla lymph node of a 43 year old male with melanoma. The biopsy material was obtained post chemotherapy. (Sigma-Aldrich catalog number 93051120)" []	209294	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO 857
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006381	"Derived from a right axilla lymph node of a 43 year old male with melanoma. The biopsy material was obtained post chemotherapy. (Sigma-Aldrich catalog number 93051120)" []	562467	\N	\N	EFO	2	EFO	cancer cell line	COLO 857
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006381	"Derived from a right axilla lymph node of a 43 year old male with melanoma. The biopsy material was obtained post chemotherapy. (Sigma-Aldrich catalog number 93051120)" []	562468	\N	\N	EFO	2	EFO	cell line	COLO 857
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006381	"Derived from a right axilla lymph node of a 43 year old male with melanoma. The biopsy material was obtained post chemotherapy. (Sigma-Aldrich catalog number 93051120)" []	562469	\N	\N	EFO	2	EFO	cell line	COLO 857
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006381	"Derived from a right axilla lymph node of a 43 year old male with melanoma. The biopsy material was obtained post chemotherapy. (Sigma-Aldrich catalog number 93051120)" []	1143971	\N	\N	EFO	3	EFO	cell line	COLO 857
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006381	"Derived from a right axilla lymph node of a 43 year old male with melanoma. The biopsy material was obtained post chemotherapy. (Sigma-Aldrich catalog number 93051120)" []	2026589	\N	\N	EFO	4	EFO	material entity	COLO 857
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006381	"Derived from a right axilla lymph node of a 43 year old male with melanoma. The biopsy material was obtained post chemotherapy. (Sigma-Aldrich catalog number 93051120)" []	2999678	\N	\N	EFO	5	EFO	experimental factor	COLO 857
EFO:0006382	\N	\N	"A human ovarian epithelial-serous carcinoma cell line established from a peritoneal ascites. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071903)" []	EFO:0006382	"A human ovarian epithelial-serous carcinoma cell line established from a peritoneal ascites. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071903)" []	67661	\N	\N	EFO	0	EFO	COV318	COV318
EFO:0002394	EFO:0006382	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006382	"A human ovarian epithelial-serous carcinoma cell line established from a peritoneal ascites. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071903)" []	209295	\N	\N	EFO	1	EFO	ovarian cancer cell lines	COV318
EFO:0002888	EFO:0006382	\N	"" []	EFO:0006382	"A human ovarian epithelial-serous carcinoma cell line established from a peritoneal ascites. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071903)" []	209296	\N	\N	EFO	1	EFO	Homo sapiens cell line	COV318
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006382	"A human ovarian epithelial-serous carcinoma cell line established from a peritoneal ascites. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071903)" []	562470	\N	\N	EFO	2	EFO	cancer cell line	COV318
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006382	"A human ovarian epithelial-serous carcinoma cell line established from a peritoneal ascites. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071903)" []	562471	\N	\N	EFO	2	EFO	cell line	COV318
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006382	"A human ovarian epithelial-serous carcinoma cell line established from a peritoneal ascites. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071903)" []	1143973	\N	\N	EFO	3	EFO	cell line	COV318
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006382	"A human ovarian epithelial-serous carcinoma cell line established from a peritoneal ascites. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071903)" []	2026591	\N	\N	EFO	4	EFO	material entity	COV318
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006382	"A human ovarian epithelial-serous carcinoma cell line established from a peritoneal ascites. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071903)" []	2999679	\N	\N	EFO	5	EFO	experimental factor	COV318
EFO:0006383	\N	\N	"A human ovarian epithelial-endometroid carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071910)" []	EFO:0006383	"A human ovarian epithelial-endometroid carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071910)" []	67662	\N	\N	EFO	0	EFO	COV362	COV362
EFO:0001639	EFO:0006383	\N	"" []	EFO:0006383	"A human ovarian epithelial-endometroid carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071910)" []	209297	\N	\N	EFO	1	EFO	cancer cell line	COV362
EFO:0002888	EFO:0006383	\N	"" []	EFO:0006383	"A human ovarian epithelial-endometroid carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071910)" []	209298	\N	\N	EFO	1	EFO	Homo sapiens cell line	COV362
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006383	"A human ovarian epithelial-endometroid carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071910)" []	562472	\N	\N	EFO	2	EFO	cell line	COV362
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006383	"A human ovarian epithelial-endometroid carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071910)" []	562473	\N	\N	EFO	2	EFO	cell line	COV362
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006383	"A human ovarian epithelial-endometroid carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071910)" []	1143975	\N	\N	EFO	3	EFO	material entity	COV362
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006383	"A human ovarian epithelial-endometroid carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071910)" []	2026593	\N	\N	EFO	4	EFO	experimental factor	COV362
EFO:0006384	\N	\N	"Human ovarian granulosa tumour cell line established from a solid primary tumour (Sigma-Aldrich catalog number 07071909)" []	EFO:0006384	"Human ovarian granulosa tumour cell line established from a solid primary tumour (Sigma-Aldrich catalog number 07071909)" []	67663	\N	\N	EFO	0	EFO	COV434	COV434
EFO:0002888	EFO:0006384	\N	"" []	EFO:0006384	"Human ovarian granulosa tumour cell line established from a solid primary tumour (Sigma-Aldrich catalog number 07071909)" []	209299	\N	\N	EFO	1	EFO	Homo sapiens cell line	COV434
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006384	"Human ovarian granulosa tumour cell line established from a solid primary tumour (Sigma-Aldrich catalog number 07071909)" []	562474	\N	\N	EFO	2	EFO	cell line	COV434
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006384	"Human ovarian granulosa tumour cell line established from a solid primary tumour (Sigma-Aldrich catalog number 07071909)" []	1143976	\N	\N	EFO	3	EFO	material entity	COV434
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006384	"Human ovarian granulosa tumour cell line established from a solid primary tumour (Sigma-Aldrich catalog number 07071909)" []	2026594	\N	\N	EFO	4	EFO	experimental factor	COV434
EFO:0006385	\N	\N	"A human ovarian epithelial-serous carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071902)" []	EFO:0006385	"A human ovarian epithelial-serous carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071902)" []	67664	\N	\N	EFO	0	EFO	COV504	COV504
EFO:0002394	EFO:0006385	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006385	"A human ovarian epithelial-serous carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071902)" []	209300	\N	\N	EFO	1	EFO	ovarian cancer cell lines	COV504
EFO:0002888	EFO:0006385	\N	"" []	EFO:0006385	"A human ovarian epithelial-serous carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071902)" []	209301	\N	\N	EFO	1	EFO	Homo sapiens cell line	COV504
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006385	"A human ovarian epithelial-serous carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071902)" []	562475	\N	\N	EFO	2	EFO	cancer cell line	COV504
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006385	"A human ovarian epithelial-serous carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071902)" []	562476	\N	\N	EFO	2	EFO	cell line	COV504
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006385	"A human ovarian epithelial-serous carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071902)" []	1143977	\N	\N	EFO	3	EFO	cell line	COV504
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006385	"A human ovarian epithelial-serous carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071902)" []	2026595	\N	\N	EFO	4	EFO	material entity	COV504
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006385	"A human ovarian epithelial-serous carcinoma cell line established from a pleural effusion. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071902)" []	2999680	\N	\N	EFO	5	EFO	experimental factor	COV504
EFO:0006386	\N	\N	"Human ovarian epithelial-mucinous carcinoma cell line established from a solid primary tumour. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071908)" []	EFO:0006386	"Human ovarian epithelial-mucinous carcinoma cell line established from a solid primary tumour. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071908)" []	67665	\N	\N	EFO	0	EFO	COV644	COV644
EFO:0001639	EFO:0006386	\N	"" []	EFO:0006386	"Human ovarian epithelial-mucinous carcinoma cell line established from a solid primary tumour. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071908)" []	209302	\N	\N	EFO	1	EFO	cancer cell line	COV644
EFO:0002888	EFO:0006386	\N	"" []	EFO:0006386	"Human ovarian epithelial-mucinous carcinoma cell line established from a solid primary tumour. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071908)" []	209303	\N	\N	EFO	1	EFO	Homo sapiens cell line	COV644
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006386	"Human ovarian epithelial-mucinous carcinoma cell line established from a solid primary tumour. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071908)" []	562477	\N	\N	EFO	2	EFO	cell line	COV644
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006386	"Human ovarian epithelial-mucinous carcinoma cell line established from a solid primary tumour. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071908)" []	562478	\N	\N	EFO	2	EFO	cell line	COV644
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006386	"Human ovarian epithelial-mucinous carcinoma cell line established from a solid primary tumour. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071908)" []	1143979	\N	\N	EFO	3	EFO	material entity	COV644
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006386	"Human ovarian epithelial-mucinous carcinoma cell line established from a solid primary tumour. Anchorage-independent growth in agar has been reported. (Sigma-Aldrich catalog number 07071908)" []	2026597	\N	\N	EFO	4	EFO	experimental factor	COV644
EFO:0006387	\N	\N	"" []	EFO:0006387	"" []	67666	\N	\N	EFO	0	EFO	cystadenocarcinoma	cystadenocarcinoma
EFO:0000228	EFO:0006387	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0006387	"" []	209304	\N	\N	EFO	1	EFO	adenocarcinoma	cystadenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006387	"" []	562479	\N	\N	EFO	2	EFO	carcinoma	cystadenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006387	"" []	1143980	\N	\N	EFO	3	EFO	cancer	cystadenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006387	"" []	1143981	\N	\N	EFO	3	EFO	epithelial neoplasm	cystadenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006387	"" []	2026598	\N	\N	EFO	4	EFO	neoplasm	cystadenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006387	"" []	2026599	\N	\N	EFO	4	EFO	neoplasm	cystadenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006387	"" []	3178664	\N	\N	EFO	5	EFO	disease	cystadenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006387	"" []	4388345	\N	\N	EFO	6	EFO	disposition	cystadenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006387	"" []	5408855	\N	\N	EFO	7	EFO	material property	cystadenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006387	"" []	6147514	\N	\N	EFO	8	EFO	experimental factor	cystadenocarcinoma
EFO:0006388	\N	\N	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	67667	\N	\N	EFO	0	EFO	cystic renal cell carcinoma	cystic renal cell carcinoma
EFO:0000681	EFO:0006388	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	209305	\N	\N	EFO	1	EFO	renal cell carcinoma	cystic renal cell carcinoma
EFO:0002890	EFO:0000681	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	562480	\N	\N	EFO	2	EFO	renal carcinoma	cystic renal cell carcinoma
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	1143982	\N	\N	EFO	3	EFO	carcinoma	cystic renal cell carcinoma
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	1143983	\N	\N	EFO	3	EFO	kidney neoplasm	cystic renal cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	2026600	\N	\N	EFO	4	EFO	cancer	cystic renal cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	2026601	\N	\N	EFO	4	EFO	epithelial neoplasm	cystic renal cell carcinoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	2026602	\N	\N	EFO	4	EFO	kidney disease	cystic renal cell carcinoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	2026603	\N	\N	EFO	4	EFO	urogenital neoplasm	cystic renal cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	3178665	\N	\N	EFO	5	EFO	neoplasm	cystic renal cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	3178666	\N	\N	EFO	5	EFO	neoplasm	cystic renal cell carcinoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	3178667	\N	\N	EFO	5	EFO	disease	cystic renal cell carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	3178668	\N	\N	EFO	5	EFO	neoplasm	cystic renal cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	4388346	\N	\N	EFO	6	EFO	disease	cystic renal cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	5408856	\N	\N	EFO	7	EFO	disposition	cystic renal cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	5996619	\N	\N	EFO	8	EFO	material property	cystic renal cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006388	"Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." []	6550380	\N	\N	EFO	9	EFO	experimental factor	cystic renal cell carcinoma
EFO:0006389	\N	\N	"Dukes' Type C, Colorectal Adenocarcinoma cell line. ATCC catalog number CCL-221" []	EFO:0006389	"Dukes' Type C, Colorectal Adenocarcinoma cell line. ATCC catalog number CCL-221" []	67668	\N	\N	EFO	0	EFO	DLD1	DLD1
BTO:0000797	\N	\N	"" []	EFO:0006389	"Dukes' Type C, Colorectal Adenocarcinoma cell line. ATCC catalog number CCL-221" []	194775	\N	\N	EFO	0	EFO	colonic cancer cell line	DLD1
BTO:0003250	\N	\N	"" []	EFO:0006389	"Dukes' Type C, Colorectal Adenocarcinoma cell line. ATCC catalog number CCL-221" []	194776	\N	\N	EFO	0	EFO	colonic epithelium cell line	DLD1
EFO:0001639	EFO:0006389	\N	"" []	EFO:0006389	"Dukes' Type C, Colorectal Adenocarcinoma cell line. ATCC catalog number CCL-221" []	209306	\N	\N	EFO	1	EFO	cancer cell line	DLD1
EFO:0002888	EFO:0006389	\N	"" []	EFO:0006389	"Dukes' Type C, Colorectal Adenocarcinoma cell line. ATCC catalog number CCL-221" []	209307	\N	\N	EFO	1	EFO	Homo sapiens cell line	DLD1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006389	"Dukes' Type C, Colorectal Adenocarcinoma cell line. ATCC catalog number CCL-221" []	562481	\N	\N	EFO	2	EFO	cell line	DLD1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006389	"Dukes' Type C, Colorectal Adenocarcinoma cell line. ATCC catalog number CCL-221" []	562482	\N	\N	EFO	2	EFO	cell line	DLD1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006389	"Dukes' Type C, Colorectal Adenocarcinoma cell line. ATCC catalog number CCL-221" []	1143984	\N	\N	EFO	3	EFO	material entity	DLD1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006389	"Dukes' Type C, Colorectal Adenocarcinoma cell line. ATCC catalog number CCL-221" []	2026604	\N	\N	EFO	4	EFO	experimental factor	DLD1
EFO:0006390	\N	\N	"The small cell carcinoma DMS 454 was isolated in 1981 from lung tissue of a male patient at time of autopsy. (Sigma-Aldrich catalog number 95062832)" []	EFO:0006390	"The small cell carcinoma DMS 454 was isolated in 1981 from lung tissue of a male patient at time of autopsy. (Sigma-Aldrich catalog number 95062832)" []	67669	\N	\N	EFO	0	EFO	DMS 454	DMS 454
EFO:0002888	EFO:0006390	\N	"" []	EFO:0006390	"The small cell carcinoma DMS 454 was isolated in 1981 from lung tissue of a male patient at time of autopsy. (Sigma-Aldrich catalog number 95062832)" []	209308	\N	\N	EFO	1	EFO	Homo sapiens cell line	DMS 454
EFO:0002934	EFO:0006390	\N	"" []	EFO:0006390	"The small cell carcinoma DMS 454 was isolated in 1981 from lung tissue of a male patient at time of autopsy. (Sigma-Aldrich catalog number 95062832)" []	209309	\N	\N	EFO	1	EFO	lung cancer cell line	DMS 454
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006390	"The small cell carcinoma DMS 454 was isolated in 1981 from lung tissue of a male patient at time of autopsy. (Sigma-Aldrich catalog number 95062832)" []	562483	\N	\N	EFO	2	EFO	cell line	DMS 454
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006390	"The small cell carcinoma DMS 454 was isolated in 1981 from lung tissue of a male patient at time of autopsy. (Sigma-Aldrich catalog number 95062832)" []	562484	\N	\N	EFO	2	EFO	cancer cell line	DMS 454
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006390	"The small cell carcinoma DMS 454 was isolated in 1981 from lung tissue of a male patient at time of autopsy. (Sigma-Aldrich catalog number 95062832)" []	2026606	\N	\N	EFO	4	EFO	material entity	DMS 454
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006390	"The small cell carcinoma DMS 454 was isolated in 1981 from lung tissue of a male patient at time of autopsy. (Sigma-Aldrich catalog number 95062832)" []	1143986	\N	\N	EFO	3	EFO	cell line	DMS 454
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006390	"The small cell carcinoma DMS 454 was isolated in 1981 from lung tissue of a male patient at time of autopsy. (Sigma-Aldrich catalog number 95062832)" []	2999681	\N	\N	EFO	5	EFO	experimental factor	DMS 454
EFO:0006391	\N	\N	"a neuroblastoma associated with increased dopamine excretion." []	EFO:0006391	"a neuroblastoma associated with increased dopamine excretion." []	67670	\N	\N	EFO	0	EFO	dopaminergic neuroblastoma	dopaminergic neuroblastoma
EFO:0000621	EFO:0006391	\N	"A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." []	EFO:0006391	"a neuroblastoma associated with increased dopamine excretion." []	209310	\N	\N	EFO	1	EFO	neuroblastoma	dopaminergic neuroblastoma
EFO:0000616	EFO:0000621	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006391	"a neuroblastoma associated with increased dopamine excretion." []	562485	\N	\N	EFO	2	EFO	neoplasm	dopaminergic neuroblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006391	"a neuroblastoma associated with increased dopamine excretion." []	1143987	\N	\N	EFO	3	EFO	disease	dopaminergic neuroblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006391	"a neuroblastoma associated with increased dopamine excretion." []	2026607	\N	\N	EFO	4	EFO	disposition	dopaminergic neuroblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006391	"a neuroblastoma associated with increased dopamine excretion." []	3178669	\N	\N	EFO	5	EFO	material property	dopaminergic neuroblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006391	"a neuroblastoma associated with increased dopamine excretion." []	4388348	\N	\N	EFO	6	EFO	experimental factor	dopaminergic neuroblastoma
EFO:0006392	\N	\N	"A woman with exocrine pancreatic cancer presented a syndrome of humoral hypercalcemia of malignancy. Supraclavicular lymph node was biopsied. The fragments of the biopsied specimen were transplanted and grown in athymic nude mice for several generations before being extracted and cultured." []	EFO:0006392	"A woman with exocrine pancreatic cancer presented a syndrome of humoral hypercalcemia of malignancy. Supraclavicular lymph node was biopsied. The fragments of the biopsied specimen were transplanted and grown in athymic nude mice for several generations before being extracted and cultured." []	67671	\N	\N	EFO	0	EFO	FA6	FA6
EFO:0001639	EFO:0006392	\N	"" []	EFO:0006392	"A woman with exocrine pancreatic cancer presented a syndrome of humoral hypercalcemia of malignancy. Supraclavicular lymph node was biopsied. The fragments of the biopsied specimen were transplanted and grown in athymic nude mice for several generations before being extracted and cultured." []	209311	\N	\N	EFO	1	EFO	cancer cell line	FA6
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006392	"A woman with exocrine pancreatic cancer presented a syndrome of humoral hypercalcemia of malignancy. Supraclavicular lymph node was biopsied. The fragments of the biopsied specimen were transplanted and grown in athymic nude mice for several generations before being extracted and cultured." []	562486	\N	\N	EFO	2	EFO	cell line	FA6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006392	"A woman with exocrine pancreatic cancer presented a syndrome of humoral hypercalcemia of malignancy. Supraclavicular lymph node was biopsied. The fragments of the biopsied specimen were transplanted and grown in athymic nude mice for several generations before being extracted and cultured." []	1143988	\N	\N	EFO	3	EFO	material entity	FA6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006392	"A woman with exocrine pancreatic cancer presented a syndrome of humoral hypercalcemia of malignancy. Supraclavicular lymph node was biopsied. The fragments of the biopsied specimen were transplanted and grown in athymic nude mice for several generations before being extracted and cultured." []	2026608	\N	\N	EFO	4	EFO	experimental factor	FA6
EFO:0006393	\N	\N	"The Farage cell line was adapted to culture in 1990 from a lymph node biopsy of a patient with diffuse large cell non-Hodgkin's lymphoma (DLCL). (ATCC catalog number CRL-2630)" []	EFO:0006393	"The Farage cell line was adapted to culture in 1990 from a lymph node biopsy of a patient with diffuse large cell non-Hodgkin's lymphoma (DLCL). (ATCC catalog number CRL-2630)" []	67672	\N	\N	EFO	0	EFO	Farage	Farage
EFO:0001640	EFO:0006393	\N	"" []	EFO:0006393	"The Farage cell line was adapted to culture in 1990 from a lymph node biopsy of a patient with diffuse large cell non-Hodgkin's lymphoma (DLCL). (ATCC catalog number CRL-2630)" []	209312	\N	\N	EFO	1	EFO	B cell derived cell line	Farage
EFO:0002888	EFO:0006393	\N	"" []	EFO:0006393	"The Farage cell line was adapted to culture in 1990 from a lymph node biopsy of a patient with diffuse large cell non-Hodgkin's lymphoma (DLCL). (ATCC catalog number CRL-2630)" []	209313	\N	\N	EFO	1	EFO	Homo sapiens cell line	Farage
EFO:0002937	EFO:0006393	\N	"" []	EFO:0006393	"The Farage cell line was adapted to culture in 1990 from a lymph node biopsy of a patient with diffuse large cell non-Hodgkin's lymphoma (DLCL). (ATCC catalog number CRL-2630)" []	209314	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	Farage
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006393	"The Farage cell line was adapted to culture in 1990 from a lymph node biopsy of a patient with diffuse large cell non-Hodgkin's lymphoma (DLCL). (ATCC catalog number CRL-2630)" []	562487	\N	\N	EFO	2	EFO	cell line	Farage
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006393	"The Farage cell line was adapted to culture in 1990 from a lymph node biopsy of a patient with diffuse large cell non-Hodgkin's lymphoma (DLCL). (ATCC catalog number CRL-2630)" []	562488	\N	\N	EFO	2	EFO	cell line	Farage
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006393	"The Farage cell line was adapted to culture in 1990 from a lymph node biopsy of a patient with diffuse large cell non-Hodgkin's lymphoma (DLCL). (ATCC catalog number CRL-2630)" []	562489	\N	\N	EFO	2	EFO	cancer cell line	Farage
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006393	"The Farage cell line was adapted to culture in 1990 from a lymph node biopsy of a patient with diffuse large cell non-Hodgkin's lymphoma (DLCL). (ATCC catalog number CRL-2630)" []	2026610	\N	\N	EFO	4	EFO	material entity	Farage
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006393	"The Farage cell line was adapted to culture in 1990 from a lymph node biopsy of a patient with diffuse large cell non-Hodgkin's lymphoma (DLCL). (ATCC catalog number CRL-2630)" []	1143990	\N	\N	EFO	3	EFO	cell line	Farage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006393	"The Farage cell line was adapted to culture in 1990 from a lymph node biopsy of a patient with diffuse large cell non-Hodgkin's lymphoma (DLCL). (ATCC catalog number CRL-2630)" []	2999682	\N	\N	EFO	5	EFO	experimental factor	Farage
EFO:0006394	\N	\N	"Human malignant melanoma cell line (ATCC catalog number CRL-1424)" []	EFO:0006394	"Human malignant melanoma cell line (ATCC catalog number CRL-1424)" []	67673	\N	\N	EFO	0	EFO	G-361	G-361
BTO:0000849	EFO:0006394	\N	"" []	EFO:0006394	"Human malignant melanoma cell line (ATCC catalog number CRL-1424)" []	209315	\N	\N	EFO	1	EFO	melanoma cell line	G-361
EFO:0001641	EFO:0006394	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006394	"Human malignant melanoma cell line (ATCC catalog number CRL-1424)" []	209316	\N	\N	EFO	1	EFO	epithelial cell derived cell line	G-361
EFO:0002888	EFO:0006394	\N	"" []	EFO:0006394	"Human malignant melanoma cell line (ATCC catalog number CRL-1424)" []	209317	\N	\N	EFO	1	EFO	Homo sapiens cell line	G-361
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006394	"Human malignant melanoma cell line (ATCC catalog number CRL-1424)" []	562490	\N	\N	EFO	2	EFO	cancer cell line	G-361
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006394	"Human malignant melanoma cell line (ATCC catalog number CRL-1424)" []	562491	\N	\N	EFO	2	EFO	cell line	G-361
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006394	"Human malignant melanoma cell line (ATCC catalog number CRL-1424)" []	562492	\N	\N	EFO	2	EFO	cell line	G-361
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006394	"Human malignant melanoma cell line (ATCC catalog number CRL-1424)" []	1143991	\N	\N	EFO	3	EFO	cell line	G-361
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006394	"Human malignant melanoma cell line (ATCC catalog number CRL-1424)" []	2026611	\N	\N	EFO	4	EFO	material entity	G-361
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006394	"Human malignant melanoma cell line (ATCC catalog number CRL-1424)" []	2999683	\N	\N	EFO	5	EFO	experimental factor	G-361
EFO:0006395	\N	\N	"Human glioma cell line" []	EFO:0006395	"Human glioma cell line" []	67674	\N	\N	EFO	0	EFO	G111	G111
EFO:0001639	EFO:0006395	\N	"" []	EFO:0006395	"Human glioma cell line" []	209318	\N	\N	EFO	1	EFO	cancer cell line	G111
EFO:0002888	EFO:0006395	\N	"" []	EFO:0006395	"Human glioma cell line" []	209319	\N	\N	EFO	1	EFO	Homo sapiens cell line	G111
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006395	"Human glioma cell line" []	562493	\N	\N	EFO	2	EFO	cell line	G111
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006395	"Human glioma cell line" []	562494	\N	\N	EFO	2	EFO	cell line	G111
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006395	"Human glioma cell line" []	1143993	\N	\N	EFO	3	EFO	material entity	G111
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006395	"Human glioma cell line" []	2026613	\N	\N	EFO	4	EFO	experimental factor	G111
EFO:0006396	\N	\N	"Human glioma cell line" []	EFO:0006396	"Human glioma cell line" []	67675	\N	\N	EFO	0	EFO	G112	G112
EFO:0001639	EFO:0006396	\N	"" []	EFO:0006396	"Human glioma cell line" []	209320	\N	\N	EFO	1	EFO	cancer cell line	G112
EFO:0002888	EFO:0006396	\N	"" []	EFO:0006396	"Human glioma cell line" []	209321	\N	\N	EFO	1	EFO	Homo sapiens cell line	G112
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006396	"Human glioma cell line" []	562495	\N	\N	EFO	2	EFO	cell line	G112
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006396	"Human glioma cell line" []	562496	\N	\N	EFO	2	EFO	cell line	G112
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006396	"Human glioma cell line" []	1143994	\N	\N	EFO	3	EFO	material entity	G112
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006396	"Human glioma cell line" []	2026614	\N	\N	EFO	4	EFO	experimental factor	G112
EFO:0006397	\N	\N	"Human glioma cell line" []	EFO:0006397	"Human glioma cell line" []	67676	\N	\N	EFO	0	EFO	G118	G118
EFO:0001639	EFO:0006397	\N	"" []	EFO:0006397	"Human glioma cell line" []	209322	\N	\N	EFO	1	EFO	cancer cell line	G118
EFO:0002888	EFO:0006397	\N	"" []	EFO:0006397	"Human glioma cell line" []	209323	\N	\N	EFO	1	EFO	Homo sapiens cell line	G118
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006397	"Human glioma cell line" []	562497	\N	\N	EFO	2	EFO	cell line	G118
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006397	"Human glioma cell line" []	562498	\N	\N	EFO	2	EFO	cell line	G118
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006397	"Human glioma cell line" []	1143995	\N	\N	EFO	3	EFO	material entity	G118
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006397	"Human glioma cell line" []	2026615	\N	\N	EFO	4	EFO	experimental factor	G118
EFO:0006398	\N	\N	"Human glioma cell line" []	EFO:0006398	"Human glioma cell line" []	67677	\N	\N	EFO	0	EFO	G120	G120
EFO:0001639	EFO:0006398	\N	"" []	EFO:0006398	"Human glioma cell line" []	209324	\N	\N	EFO	1	EFO	cancer cell line	G120
EFO:0002888	EFO:0006398	\N	"" []	EFO:0006398	"Human glioma cell line" []	209325	\N	\N	EFO	1	EFO	Homo sapiens cell line	G120
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006398	"Human glioma cell line" []	562499	\N	\N	EFO	2	EFO	cell line	G120
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006398	"Human glioma cell line" []	562500	\N	\N	EFO	2	EFO	cell line	G120
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006398	"Human glioma cell line" []	1143996	\N	\N	EFO	3	EFO	material entity	G120
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006398	"Human glioma cell line" []	2026616	\N	\N	EFO	4	EFO	experimental factor	G120
EFO:0006399	\N	\N	"Human glioma cell line" []	EFO:0006399	"Human glioma cell line" []	67678	\N	\N	EFO	0	EFO	G121	G121
EFO:0001639	EFO:0006399	\N	"" []	EFO:0006399	"Human glioma cell line" []	209326	\N	\N	EFO	1	EFO	cancer cell line	G121
EFO:0002888	EFO:0006399	\N	"" []	EFO:0006399	"Human glioma cell line" []	209327	\N	\N	EFO	1	EFO	Homo sapiens cell line	G121
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006399	"Human glioma cell line" []	562501	\N	\N	EFO	2	EFO	cell line	G121
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006399	"Human glioma cell line" []	562502	\N	\N	EFO	2	EFO	cell line	G121
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006399	"Human glioma cell line" []	1143997	\N	\N	EFO	3	EFO	material entity	G121
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006399	"Human glioma cell line" []	2026617	\N	\N	EFO	4	EFO	experimental factor	G121
EFO:0006400	\N	\N	"Human glioma cell line" []	EFO:0006400	"Human glioma cell line" []	67679	\N	\N	EFO	0	EFO	G122	G122
EFO:0001639	EFO:0006400	\N	"" []	EFO:0006400	"Human glioma cell line" []	209328	\N	\N	EFO	1	EFO	cancer cell line	G122
EFO:0002888	EFO:0006400	\N	"" []	EFO:0006400	"Human glioma cell line" []	209329	\N	\N	EFO	1	EFO	Homo sapiens cell line	G122
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006400	"Human glioma cell line" []	562503	\N	\N	EFO	2	EFO	cell line	G122
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006400	"Human glioma cell line" []	562504	\N	\N	EFO	2	EFO	cell line	G122
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006400	"Human glioma cell line" []	1143998	\N	\N	EFO	3	EFO	material entity	G122
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006400	"Human glioma cell line" []	2026618	\N	\N	EFO	4	EFO	experimental factor	G122
EFO:0006401	\N	\N	"Human glioma cell line" []	EFO:0006401	"Human glioma cell line" []	67680	\N	\N	EFO	0	EFO	G124	G124
EFO:0001639	EFO:0006401	\N	"" []	EFO:0006401	"Human glioma cell line" []	209330	\N	\N	EFO	1	EFO	cancer cell line	G124
EFO:0002888	EFO:0006401	\N	"" []	EFO:0006401	"Human glioma cell line" []	209331	\N	\N	EFO	1	EFO	Homo sapiens cell line	G124
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006401	"Human glioma cell line" []	562505	\N	\N	EFO	2	EFO	cell line	G124
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006401	"Human glioma cell line" []	562506	\N	\N	EFO	2	EFO	cell line	G124
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006401	"Human glioma cell line" []	1143999	\N	\N	EFO	3	EFO	material entity	G124
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006401	"Human glioma cell line" []	2026619	\N	\N	EFO	4	EFO	experimental factor	G124
EFO:0006402	\N	\N	"Human glioma cell line" []	EFO:0006402	"Human glioma cell line" []	67681	\N	\N	EFO	0	EFO	G130	G130
EFO:0001639	EFO:0006402	\N	"" []	EFO:0006402	"Human glioma cell line" []	209332	\N	\N	EFO	1	EFO	cancer cell line	G130
EFO:0002888	EFO:0006402	\N	"" []	EFO:0006402	"Human glioma cell line" []	209333	\N	\N	EFO	1	EFO	Homo sapiens cell line	G130
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006402	"Human glioma cell line" []	562507	\N	\N	EFO	2	EFO	cell line	G130
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006402	"Human glioma cell line" []	562508	\N	\N	EFO	2	EFO	cell line	G130
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006402	"Human glioma cell line" []	1144000	\N	\N	EFO	3	EFO	material entity	G130
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006402	"Human glioma cell line" []	2026620	\N	\N	EFO	4	EFO	experimental factor	G130
EFO:0006403	\N	\N	"Human glioma cell line" []	EFO:0006403	"Human glioma cell line" []	67682	\N	\N	EFO	0	EFO	G140	G140
EFO:0001639	EFO:0006403	\N	"" []	EFO:0006403	"Human glioma cell line" []	209334	\N	\N	EFO	1	EFO	cancer cell line	G140
EFO:0002888	EFO:0006403	\N	"" []	EFO:0006403	"Human glioma cell line" []	209335	\N	\N	EFO	1	EFO	Homo sapiens cell line	G140
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006403	"Human glioma cell line" []	562509	\N	\N	EFO	2	EFO	cell line	G140
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006403	"Human glioma cell line" []	562510	\N	\N	EFO	2	EFO	cell line	G140
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006403	"Human glioma cell line" []	1144001	\N	\N	EFO	3	EFO	material entity	G140
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006403	"Human glioma cell line" []	2026621	\N	\N	EFO	4	EFO	experimental factor	G140
EFO:0006404	\N	\N	"Human glioma cell line" []	EFO:0006404	"Human glioma cell line" []	67683	\N	\N	EFO	0	EFO	G141	G141
EFO:0001639	EFO:0006404	\N	"" []	EFO:0006404	"Human glioma cell line" []	209336	\N	\N	EFO	1	EFO	cancer cell line	G141
EFO:0002888	EFO:0006404	\N	"" []	EFO:0006404	"Human glioma cell line" []	209337	\N	\N	EFO	1	EFO	Homo sapiens cell line	G141
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006404	"Human glioma cell line" []	562511	\N	\N	EFO	2	EFO	cell line	G141
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006404	"Human glioma cell line" []	562512	\N	\N	EFO	2	EFO	cell line	G141
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006404	"Human glioma cell line" []	1144002	\N	\N	EFO	3	EFO	material entity	G141
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006404	"Human glioma cell line" []	2026622	\N	\N	EFO	4	EFO	experimental factor	G141
EFO:0006405	\N	\N	"Human glioma cell line" []	EFO:0006405	"Human glioma cell line" []	67684	\N	\N	EFO	0	EFO	G142	G142
EFO:0001639	EFO:0006405	\N	"" []	EFO:0006405	"Human glioma cell line" []	209338	\N	\N	EFO	1	EFO	cancer cell line	G142
EFO:0002888	EFO:0006405	\N	"" []	EFO:0006405	"Human glioma cell line" []	209339	\N	\N	EFO	1	EFO	Homo sapiens cell line	G142
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006405	"Human glioma cell line" []	562513	\N	\N	EFO	2	EFO	cell line	G142
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006405	"Human glioma cell line" []	562514	\N	\N	EFO	2	EFO	cell line	G142
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006405	"Human glioma cell line" []	1144003	\N	\N	EFO	3	EFO	material entity	G142
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006405	"Human glioma cell line" []	2026623	\N	\N	EFO	4	EFO	experimental factor	G142
EFO:0006406	\N	\N	"Human glioma cell line" []	EFO:0006406	"Human glioma cell line" []	67685	\N	\N	EFO	0	EFO	G22	G22
EFO:0001639	EFO:0006406	\N	"" []	EFO:0006406	"Human glioma cell line" []	209340	\N	\N	EFO	1	EFO	cancer cell line	G22
EFO:0002888	EFO:0006406	\N	"" []	EFO:0006406	"Human glioma cell line" []	209341	\N	\N	EFO	1	EFO	Homo sapiens cell line	G22
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006406	"Human glioma cell line" []	562515	\N	\N	EFO	2	EFO	cell line	G22
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006406	"Human glioma cell line" []	562516	\N	\N	EFO	2	EFO	cell line	G22
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006406	"Human glioma cell line" []	1144004	\N	\N	EFO	3	EFO	material entity	G22
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006406	"Human glioma cell line" []	2026624	\N	\N	EFO	4	EFO	experimental factor	G22
EFO:0006407	\N	\N	"Human glioma cell line" []	EFO:0006407	"Human glioma cell line" []	67686	\N	\N	EFO	0	EFO	G28T	G28T
EFO:0001639	EFO:0006407	\N	"" []	EFO:0006407	"Human glioma cell line" []	209342	\N	\N	EFO	1	EFO	cancer cell line	G28T
EFO:0002888	EFO:0006407	\N	"" []	EFO:0006407	"Human glioma cell line" []	209343	\N	\N	EFO	1	EFO	Homo sapiens cell line	G28T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006407	"Human glioma cell line" []	562517	\N	\N	EFO	2	EFO	cell line	G28T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006407	"Human glioma cell line" []	562518	\N	\N	EFO	2	EFO	cell line	G28T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006407	"Human glioma cell line" []	1144005	\N	\N	EFO	3	EFO	material entity	G28T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006407	"Human glioma cell line" []	2026625	\N	\N	EFO	4	EFO	experimental factor	G28T
EFO:0006408	\N	\N	"Human glioma cell line" []	EFO:0006408	"Human glioma cell line" []	67687	\N	\N	EFO	0	EFO	G44	G44
EFO:0001639	EFO:0006408	\N	"" []	EFO:0006408	"Human glioma cell line" []	209344	\N	\N	EFO	1	EFO	cancer cell line	G44
EFO:0002888	EFO:0006408	\N	"" []	EFO:0006408	"Human glioma cell line" []	209345	\N	\N	EFO	1	EFO	Homo sapiens cell line	G44
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006408	"Human glioma cell line" []	562519	\N	\N	EFO	2	EFO	cell line	G44
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006408	"Human glioma cell line" []	562520	\N	\N	EFO	2	EFO	cell line	G44
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006408	"Human glioma cell line" []	1144006	\N	\N	EFO	3	EFO	material entity	G44
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006408	"Human glioma cell line" []	2026626	\N	\N	EFO	4	EFO	experimental factor	G44
EFO:0006409	\N	\N	"Human glioma cell line" []	EFO:0006409	"Human glioma cell line" []	67688	\N	\N	EFO	0	EFO	G59	G59
EFO:0001639	EFO:0006409	\N	"" []	EFO:0006409	"Human glioma cell line" []	209346	\N	\N	EFO	1	EFO	cancer cell line	G59
EFO:0002888	EFO:0006409	\N	"" []	EFO:0006409	"Human glioma cell line" []	209347	\N	\N	EFO	1	EFO	Homo sapiens cell line	G59
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006409	"Human glioma cell line" []	562521	\N	\N	EFO	2	EFO	cell line	G59
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006409	"Human glioma cell line" []	562522	\N	\N	EFO	2	EFO	cell line	G59
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006409	"Human glioma cell line" []	1144007	\N	\N	EFO	3	EFO	material entity	G59
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006409	"Human glioma cell line" []	2026627	\N	\N	EFO	4	EFO	experimental factor	G59
EFO:0006410	\N	\N	"Human glioma cell line" []	EFO:0006410	"Human glioma cell line" []	67689	\N	\N	EFO	0	EFO	G61	G61
EFO:0001639	EFO:0006410	\N	"" []	EFO:0006410	"Human glioma cell line" []	209348	\N	\N	EFO	1	EFO	cancer cell line	G61
EFO:0002888	EFO:0006410	\N	"" []	EFO:0006410	"Human glioma cell line" []	209349	\N	\N	EFO	1	EFO	Homo sapiens cell line	G61
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006410	"Human glioma cell line" []	562523	\N	\N	EFO	2	EFO	cell line	G61
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006410	"Human glioma cell line" []	562524	\N	\N	EFO	2	EFO	cell line	G61
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006410	"Human glioma cell line" []	1144008	\N	\N	EFO	3	EFO	material entity	G61
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006410	"Human glioma cell line" []	2026628	\N	\N	EFO	4	EFO	experimental factor	G61
EFO:0006411	\N	\N	"Human glioma cell line" []	EFO:0006411	"Human glioma cell line" []	67690	\N	\N	EFO	0	EFO	G84	G84
EFO:0001639	EFO:0006411	\N	"" []	EFO:0006411	"Human glioma cell line" []	209350	\N	\N	EFO	1	EFO	cancer cell line	G84
EFO:0002888	EFO:0006411	\N	"" []	EFO:0006411	"Human glioma cell line" []	209351	\N	\N	EFO	1	EFO	Homo sapiens cell line	G84
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006411	"Human glioma cell line" []	562525	\N	\N	EFO	2	EFO	cell line	G84
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006411	"Human glioma cell line" []	562526	\N	\N	EFO	2	EFO	cell line	G84
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006411	"Human glioma cell line" []	1144009	\N	\N	EFO	3	EFO	material entity	G84
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006411	"Human glioma cell line" []	2026629	\N	\N	EFO	4	EFO	experimental factor	G84
EFO:0006412	\N	\N	"Human glioma cell line" []	EFO:0006412	"Human glioma cell line" []	67691	\N	\N	EFO	0	EFO	G96	G96
EFO:0001639	EFO:0006412	\N	"" []	EFO:0006412	"Human glioma cell line" []	209352	\N	\N	EFO	1	EFO	cancer cell line	G96
EFO:0002888	EFO:0006412	\N	"" []	EFO:0006412	"Human glioma cell line" []	209353	\N	\N	EFO	1	EFO	Homo sapiens cell line	G96
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006412	"Human glioma cell line" []	562527	\N	\N	EFO	2	EFO	cell line	G96
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006412	"Human glioma cell line" []	562528	\N	\N	EFO	2	EFO	cell line	G96
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006412	"Human glioma cell line" []	1144010	\N	\N	EFO	3	EFO	material entity	G96
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006412	"Human glioma cell line" []	2026630	\N	\N	EFO	4	EFO	experimental factor	G96
EFO:0006414	\N	\N	"a prolactin (PRL) responsive clone of the COMMA-1D mouse (Balb/c) mammary epithelial cell line" []	EFO:0006414	"a prolactin (PRL) responsive clone of the COMMA-1D mouse (Balb/c) mammary epithelial cell line" []	67692	\N	\N	EFO	0	EFO	HC11	HC11
EFO:0001641	EFO:0006414	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006414	"a prolactin (PRL) responsive clone of the COMMA-1D mouse (Balb/c) mammary epithelial cell line" []	209354	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HC11
EFO:0002884	EFO:0006414	\N	"" []	EFO:0006414	"a prolactin (PRL) responsive clone of the COMMA-1D mouse (Balb/c) mammary epithelial cell line" []	209355	\N	\N	EFO	1	EFO	mammary gland cell line	HC11
EFO:0002887	EFO:0006414	\N	"Cell lines derived from mice." []	EFO:0006414	"a prolactin (PRL) responsive clone of the COMMA-1D mouse (Balb/c) mammary epithelial cell line" []	209356	\N	\N	EFO	1	EFO	mouse cell line	HC11
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006414	"a prolactin (PRL) responsive clone of the COMMA-1D mouse (Balb/c) mammary epithelial cell line" []	562529	\N	\N	EFO	2	EFO	cell line	HC11
EFO:0000322	EFO:0002884	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006414	"a prolactin (PRL) responsive clone of the COMMA-1D mouse (Balb/c) mammary epithelial cell line" []	562530	\N	\N	EFO	2	EFO	cell line	HC11
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006414	"a prolactin (PRL) responsive clone of the COMMA-1D mouse (Balb/c) mammary epithelial cell line" []	562531	\N	\N	EFO	2	EFO	cell line	HC11
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006414	"a prolactin (PRL) responsive clone of the COMMA-1D mouse (Balb/c) mammary epithelial cell line" []	1144011	\N	\N	EFO	3	EFO	material entity	HC11
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006414	"a prolactin (PRL) responsive clone of the COMMA-1D mouse (Balb/c) mammary epithelial cell line" []	2026631	\N	\N	EFO	4	EFO	experimental factor	HC11
EFO:0006415	\N	\N	"The human colon cancer cell line, HCA-7 Colony 29 expresses Cox-2. An interesting feature of this cell line is that it forms polarised epithelial sheets which allows examination of the trafficking and release of biomolecules in vitro. Cyclooxygenases (COXs) are key enzymes in the conversion of arachidonic acid to prostaglandins and other eicosanoids. It has been found that colonic polyps and cancers overexpress Cox-2 and that the inhibition of this enzyme by nonsteroidal anti-inflammatory drugs decreases the risk of colonic neoplasia. This cell line is useful for studying the role of Cox-2 in cancer cell biology and the investigation of colorectal epithelial cell polarity. Imperial College Innovations has stated that this cell line is not to be supplied to commercial organisations. (Sigma-Aldrich catalog number 02091238)" []	EFO:0006415	"The human colon cancer cell line, HCA-7 Colony 29 expresses Cox-2. An interesting feature of this cell line is that it forms polarised epithelial sheets which allows examination of the trafficking and release of biomolecules in vitro. Cyclooxygenases (COXs) are key enzymes in the conversion of arachidonic acid to prostaglandins and other eicosanoids. It has been found that colonic polyps and cancers overexpress Cox-2 and that the inhibition of this enzyme by nonsteroidal anti-inflammatory drugs decreases the risk of colonic neoplasia. This cell line is useful for studying the role of Cox-2 in cancer cell biology and the investigation of colorectal epithelial cell polarity. Imperial College Innovations has stated that this cell line is not to be supplied to commercial organisations. (Sigma-Aldrich catalog number 02091238)" []	67693	\N	\N	EFO	0	EFO	HCA-7	HCA-7
BTO:0001616	\N	\N	"" []	EFO:0006415	"The human colon cancer cell line, HCA-7 Colony 29 expresses Cox-2. An interesting feature of this cell line is that it forms polarised epithelial sheets which allows examination of the trafficking and release of biomolecules in vitro. Cyclooxygenases (COXs) are key enzymes in the conversion of arachidonic acid to prostaglandins and other eicosanoids. It has been found that colonic polyps and cancers overexpress Cox-2 and that the inhibition of this enzyme by nonsteroidal anti-inflammatory drugs decreases the risk of colonic neoplasia. This cell line is useful for studying the role of Cox-2 in cancer cell biology and the investigation of colorectal epithelial cell polarity. Imperial College Innovations has stated that this cell line is not to be supplied to commercial organisations. (Sigma-Aldrich catalog number 02091238)" []	194777	\N	\N	EFO	0	EFO	colorectal cancer cell line	HCA-7
BTO:0003250	\N	\N	"" []	EFO:0006415	"The human colon cancer cell line, HCA-7 Colony 29 expresses Cox-2. An interesting feature of this cell line is that it forms polarised epithelial sheets which allows examination of the trafficking and release of biomolecules in vitro. Cyclooxygenases (COXs) are key enzymes in the conversion of arachidonic acid to prostaglandins and other eicosanoids. It has been found that colonic polyps and cancers overexpress Cox-2 and that the inhibition of this enzyme by nonsteroidal anti-inflammatory drugs decreases the risk of colonic neoplasia. This cell line is useful for studying the role of Cox-2 in cancer cell biology and the investigation of colorectal epithelial cell polarity. Imperial College Innovations has stated that this cell line is not to be supplied to commercial organisations. (Sigma-Aldrich catalog number 02091238)" []	194778	\N	\N	EFO	0	EFO	colonic epithelium cell line	HCA-7
EFO:0002888	EFO:0006415	\N	"" []	EFO:0006415	"The human colon cancer cell line, HCA-7 Colony 29 expresses Cox-2. An interesting feature of this cell line is that it forms polarised epithelial sheets which allows examination of the trafficking and release of biomolecules in vitro. Cyclooxygenases (COXs) are key enzymes in the conversion of arachidonic acid to prostaglandins and other eicosanoids. It has been found that colonic polyps and cancers overexpress Cox-2 and that the inhibition of this enzyme by nonsteroidal anti-inflammatory drugs decreases the risk of colonic neoplasia. This cell line is useful for studying the role of Cox-2 in cancer cell biology and the investigation of colorectal epithelial cell polarity. Imperial College Innovations has stated that this cell line is not to be supplied to commercial organisations. (Sigma-Aldrich catalog number 02091238)" []	209357	\N	\N	EFO	1	EFO	Homo sapiens cell line	HCA-7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006415	"The human colon cancer cell line, HCA-7 Colony 29 expresses Cox-2. An interesting feature of this cell line is that it forms polarised epithelial sheets which allows examination of the trafficking and release of biomolecules in vitro. Cyclooxygenases (COXs) are key enzymes in the conversion of arachidonic acid to prostaglandins and other eicosanoids. It has been found that colonic polyps and cancers overexpress Cox-2 and that the inhibition of this enzyme by nonsteroidal anti-inflammatory drugs decreases the risk of colonic neoplasia. This cell line is useful for studying the role of Cox-2 in cancer cell biology and the investigation of colorectal epithelial cell polarity. Imperial College Innovations has stated that this cell line is not to be supplied to commercial organisations. (Sigma-Aldrich catalog number 02091238)" []	562532	\N	\N	EFO	2	EFO	cell line	HCA-7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006415	"The human colon cancer cell line, HCA-7 Colony 29 expresses Cox-2. An interesting feature of this cell line is that it forms polarised epithelial sheets which allows examination of the trafficking and release of biomolecules in vitro. Cyclooxygenases (COXs) are key enzymes in the conversion of arachidonic acid to prostaglandins and other eicosanoids. It has been found that colonic polyps and cancers overexpress Cox-2 and that the inhibition of this enzyme by nonsteroidal anti-inflammatory drugs decreases the risk of colonic neoplasia. This cell line is useful for studying the role of Cox-2 in cancer cell biology and the investigation of colorectal epithelial cell polarity. Imperial College Innovations has stated that this cell line is not to be supplied to commercial organisations. (Sigma-Aldrich catalog number 02091238)" []	1144012	\N	\N	EFO	3	EFO	material entity	HCA-7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006415	"The human colon cancer cell line, HCA-7 Colony 29 expresses Cox-2. An interesting feature of this cell line is that it forms polarised epithelial sheets which allows examination of the trafficking and release of biomolecules in vitro. Cyclooxygenases (COXs) are key enzymes in the conversion of arachidonic acid to prostaglandins and other eicosanoids. It has been found that colonic polyps and cancers overexpress Cox-2 and that the inhibition of this enzyme by nonsteroidal anti-inflammatory drugs decreases the risk of colonic neoplasia. This cell line is useful for studying the role of Cox-2 in cancer cell biology and the investigation of colorectal epithelial cell polarity. Imperial College Innovations has stated that this cell line is not to be supplied to commercial organisations. (Sigma-Aldrich catalog number 02091238)" []	2026632	\N	\N	EFO	4	EFO	experimental factor	HCA-7
EFO:0006416	\N	\N	"Human renal cell carcinoma cell line from 45-year-old female patient" []	EFO:0006416	"Human renal cell carcinoma cell line from 45-year-old female patient" []	67694	\N	\N	EFO	0	EFO	HCC0012	HCC0012
EFO:0001639	EFO:0006416	\N	"" []	EFO:0006416	"Human renal cell carcinoma cell line from 45-year-old female patient" []	209358	\N	\N	EFO	1	EFO	cancer cell line	HCC0012
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006416	"Human renal cell carcinoma cell line from 45-year-old female patient" []	562533	\N	\N	EFO	2	EFO	cell line	HCC0012
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006416	"Human renal cell carcinoma cell line from 45-year-old female patient" []	1144013	\N	\N	EFO	3	EFO	material entity	HCC0012
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006416	"Human renal cell carcinoma cell line from 45-year-old female patient" []	2026633	\N	\N	EFO	4	EFO	experimental factor	HCC0012
EFO:0006417	\N	\N	"Human small cell lung carcinoma cell line from a 53-year-old Caucasian male patient" []	EFO:0006417	"Human small cell lung carcinoma cell line from a 53-year-old Caucasian male patient" []	67695	\N	\N	EFO	0	EFO	HCC0033	HCC0033
EFO:0002934	EFO:0006417	\N	"" []	EFO:0006417	"Human small cell lung carcinoma cell line from a 53-year-old Caucasian male patient" []	209359	\N	\N	EFO	1	EFO	lung cancer cell line	HCC0033
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006417	"Human small cell lung carcinoma cell line from a 53-year-old Caucasian male patient" []	562534	\N	\N	EFO	2	EFO	cancer cell line	HCC0033
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006417	"Human small cell lung carcinoma cell line from a 53-year-old Caucasian male patient" []	1144014	\N	\N	EFO	3	EFO	cell line	HCC0033
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006417	"Human small cell lung carcinoma cell line from a 53-year-old Caucasian male patient" []	2026634	\N	\N	EFO	4	EFO	material entity	HCC0033
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006417	"Human small cell lung carcinoma cell line from a 53-year-old Caucasian male patient" []	3178670	\N	\N	EFO	5	EFO	experimental factor	HCC0033
EFO:0006418	\N	\N	"Human cystoadenocarcinoma cell line from a 26-year-old Black female patient" []	EFO:0006418	"Human cystoadenocarcinoma cell line from a 26-year-old Black female patient" []	67696	\N	\N	EFO	0	EFO	HCC0060	HCC0060
EFO:0001639	EFO:0006418	\N	"" []	EFO:0006418	"Human cystoadenocarcinoma cell line from a 26-year-old Black female patient" []	209360	\N	\N	EFO	1	EFO	cancer cell line	HCC0060
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006418	"Human cystoadenocarcinoma cell line from a 26-year-old Black female patient" []	562535	\N	\N	EFO	2	EFO	cell line	HCC0060
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006418	"Human cystoadenocarcinoma cell line from a 26-year-old Black female patient" []	1144015	\N	\N	EFO	3	EFO	material entity	HCC0060
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006418	"Human cystoadenocarcinoma cell line from a 26-year-old Black female patient" []	2026635	\N	\N	EFO	4	EFO	experimental factor	HCC0060
EFO:0006419	\N	\N	"Human renal cell carcinoma cell line from a 64-year-old Caucasian female patient" []	EFO:0006419	"Human renal cell carcinoma cell line from a 64-year-old Caucasian female patient" []	67697	\N	\N	EFO	0	EFO	HCC0089	HCC0089
EFO:0001639	EFO:0006419	\N	"" []	EFO:0006419	"Human renal cell carcinoma cell line from a 64-year-old Caucasian female patient" []	209361	\N	\N	EFO	1	EFO	cancer cell line	HCC0089
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006419	"Human renal cell carcinoma cell line from a 64-year-old Caucasian female patient" []	562536	\N	\N	EFO	2	EFO	cell line	HCC0089
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006419	"Human renal cell carcinoma cell line from a 64-year-old Caucasian female patient" []	1144016	\N	\N	EFO	3	EFO	material entity	HCC0089
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006419	"Human renal cell carcinoma cell line from a 64-year-old Caucasian female patient" []	2026636	\N	\N	EFO	4	EFO	experimental factor	HCC0089
EFO:0006420	\N	\N	"Human lung adenocarcinoma cell line from a 76-year-old male patient" []	EFO:0006420	"Human lung adenocarcinoma cell line from a 76-year-old male patient" []	67698	\N	\N	EFO	0	EFO	HCC0364	HCC0364
EFO:0002934	EFO:0006420	\N	"" []	EFO:0006420	"Human lung adenocarcinoma cell line from a 76-year-old male patient" []	209362	\N	\N	EFO	1	EFO	lung cancer cell line	HCC0364
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006420	"Human lung adenocarcinoma cell line from a 76-year-old male patient" []	562537	\N	\N	EFO	2	EFO	cancer cell line	HCC0364
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006420	"Human lung adenocarcinoma cell line from a 76-year-old male patient" []	1144017	\N	\N	EFO	3	EFO	cell line	HCC0364
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006420	"Human lung adenocarcinoma cell line from a 76-year-old male patient" []	2026637	\N	\N	EFO	4	EFO	material entity	HCC0364
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006420	"Human lung adenocarcinoma cell line from a 76-year-old male patient" []	3178671	\N	\N	EFO	5	EFO	experimental factor	HCC0364
EFO:0006421	\N	\N	"Human ovarian carcinoma cell line from a 32-year-old Hispanic female patient" []	EFO:0006421	"Human ovarian carcinoma cell line from a 32-year-old Hispanic female patient" []	67699	\N	\N	EFO	0	EFO	HCC0630	HCC0630
EFO:0002394	EFO:0006421	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006421	"Human ovarian carcinoma cell line from a 32-year-old Hispanic female patient" []	209363	\N	\N	EFO	1	EFO	ovarian cancer cell lines	HCC0630
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006421	"Human ovarian carcinoma cell line from a 32-year-old Hispanic female patient" []	562538	\N	\N	EFO	2	EFO	cancer cell line	HCC0630
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006421	"Human ovarian carcinoma cell line from a 32-year-old Hispanic female patient" []	1144018	\N	\N	EFO	3	EFO	cell line	HCC0630
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006421	"Human ovarian carcinoma cell line from a 32-year-old Hispanic female patient" []	2026638	\N	\N	EFO	4	EFO	material entity	HCC0630
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006421	"Human ovarian carcinoma cell line from a 32-year-old Hispanic female patient" []	3178672	\N	\N	EFO	5	EFO	experimental factor	HCC0630
EFO:0006422	\N	\N	"Human cystic renal cell carcinoma cell line from 37-year-old Hispanic male" []	EFO:0006422	"Human cystic renal cell carcinoma cell line from 37-year-old Hispanic male" []	67700	\N	\N	EFO	0	EFO	HCC1011	HCC1011
EFO:0001639	EFO:0006422	\N	"" []	EFO:0006422	"Human cystic renal cell carcinoma cell line from 37-year-old Hispanic male" []	209364	\N	\N	EFO	1	EFO	cancer cell line	HCC1011
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006422	"Human cystic renal cell carcinoma cell line from 37-year-old Hispanic male" []	562539	\N	\N	EFO	2	EFO	cell line	HCC1011
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006422	"Human cystic renal cell carcinoma cell line from 37-year-old Hispanic male" []	1144019	\N	\N	EFO	3	EFO	material entity	HCC1011
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006422	"Human cystic renal cell carcinoma cell line from 37-year-old Hispanic male" []	2026639	\N	\N	EFO	4	EFO	experimental factor	HCC1011
EFO:0006423	\N	\N	"Human uterine adenocarcinoma cell line from 48-year-old Black female" []	EFO:0006423	"Human uterine adenocarcinoma cell line from 48-year-old Black female" []	67701	\N	\N	EFO	0	EFO	HCC1162	HCC1162
EFO:0001639	EFO:0006423	\N	"" []	EFO:0006423	"Human uterine adenocarcinoma cell line from 48-year-old Black female" []	209365	\N	\N	EFO	1	EFO	cancer cell line	HCC1162
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006423	"Human uterine adenocarcinoma cell line from 48-year-old Black female" []	562540	\N	\N	EFO	2	EFO	cell line	HCC1162
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006423	"Human uterine adenocarcinoma cell line from 48-year-old Black female" []	1144020	\N	\N	EFO	3	EFO	material entity	HCC1162
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006423	"Human uterine adenocarcinoma cell line from 48-year-old Black female" []	2026640	\N	\N	EFO	4	EFO	experimental factor	HCC1162
EFO:0006424	\N	\N	"Human colorectal adenocarcinoma cell line from 20-year-old Black female" []	EFO:0006424	"Human colorectal adenocarcinoma cell line from 20-year-old Black female" []	67702	\N	\N	EFO	0	EFO	HCC1263	HCC1263
BTO:0000797	\N	\N	"" []	EFO:0006424	"Human colorectal adenocarcinoma cell line from 20-year-old Black female" []	194779	\N	\N	EFO	0	EFO	colonic cancer cell line	HCC1263
EFO:0001639	EFO:0006424	\N	"" []	EFO:0006424	"Human colorectal adenocarcinoma cell line from 20-year-old Black female" []	209366	\N	\N	EFO	1	EFO	cancer cell line	HCC1263
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006424	"Human colorectal adenocarcinoma cell line from 20-year-old Black female" []	562541	\N	\N	EFO	2	EFO	cell line	HCC1263
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006424	"Human colorectal adenocarcinoma cell line from 20-year-old Black female" []	1144021	\N	\N	EFO	3	EFO	material entity	HCC1263
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006424	"Human colorectal adenocarcinoma cell line from 20-year-old Black female" []	2026641	\N	\N	EFO	4	EFO	experimental factor	HCC1263
EFO:0006425	\N	\N	"Human renal cell carcinoma cell line from 68-year-old Caucasian male" []	EFO:0006425	"Human renal cell carcinoma cell line from 68-year-old Caucasian male" []	67703	\N	\N	EFO	0	EFO	HCC1319	HCC1319
EFO:0001639	EFO:0006425	\N	"" []	EFO:0006425	"Human renal cell carcinoma cell line from 68-year-old Caucasian male" []	209367	\N	\N	EFO	1	EFO	cancer cell line	HCC1319
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006425	"Human renal cell carcinoma cell line from 68-year-old Caucasian male" []	562542	\N	\N	EFO	2	EFO	cell line	HCC1319
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006425	"Human renal cell carcinoma cell line from 68-year-old Caucasian male" []	1144022	\N	\N	EFO	3	EFO	material entity	HCC1319
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006425	"Human renal cell carcinoma cell line from 68-year-old Caucasian male" []	2026642	\N	\N	EFO	4	EFO	experimental factor	HCC1319
EFO:0006426	\N	\N	"Human uterine adenocarcinoma cell line from 62-year-old Caucasian female" []	EFO:0006426	"Human uterine adenocarcinoma cell line from 62-year-old Caucasian female" []	67704	\N	\N	EFO	0	EFO	HCC1482	HCC1482
EFO:0001639	EFO:0006426	\N	"" []	EFO:0006426	"Human uterine adenocarcinoma cell line from 62-year-old Caucasian female" []	209368	\N	\N	EFO	1	EFO	cancer cell line	HCC1482
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006426	"Human uterine adenocarcinoma cell line from 62-year-old Caucasian female" []	562543	\N	\N	EFO	2	EFO	cell line	HCC1482
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006426	"Human uterine adenocarcinoma cell line from 62-year-old Caucasian female" []	1144023	\N	\N	EFO	3	EFO	material entity	HCC1482
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006426	"Human uterine adenocarcinoma cell line from 62-year-old Caucasian female" []	2026643	\N	\N	EFO	4	EFO	experimental factor	HCC1482
EFO:0006427	\N	\N	"Human breast adenocarcinoma cell line from 43-year-old male patient" []	EFO:0006427	"Human breast adenocarcinoma cell line from 43-year-old male patient" []	67705	\N	\N	EFO	0	EFO	HCC1493	HCC1493
EFO:0005215	EFO:0006427	\N	"A cell line which is a model for breast adenocarcinoma." []	EFO:0006427	"Human breast adenocarcinoma cell line from 43-year-old male patient" []	209369	\N	\N	EFO	1	EFO	breast adenocarcinoma cell line	HCC1493
EFO:0002885	EFO:0005215	\N	"" []	EFO:0006427	"Human breast adenocarcinoma cell line from 43-year-old male patient" []	562544	\N	\N	EFO	2	EFO	breast cancer cell line	HCC1493
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006427	"Human breast adenocarcinoma cell line from 43-year-old male patient" []	1144024	\N	\N	EFO	3	EFO	cancer cell line	HCC1493
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006427	"Human breast adenocarcinoma cell line from 43-year-old male patient" []	2026644	\N	\N	EFO	4	EFO	cell line	HCC1493
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006427	"Human breast adenocarcinoma cell line from 43-year-old male patient" []	3178673	\N	\N	EFO	5	EFO	material entity	HCC1493
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006427	"Human breast adenocarcinoma cell line from 43-year-old male patient" []	4388349	\N	\N	EFO	6	EFO	experimental factor	HCC1493
EFO:0006428	\N	\N	"Human lung adenocarcinoma cell line" []	EFO:0006428	"Human lung adenocarcinoma cell line" []	67706	\N	\N	EFO	0	EFO	HCC1534	HCC1534
EFO:0002934	EFO:0006428	\N	"" []	EFO:0006428	"Human lung adenocarcinoma cell line" []	209370	\N	\N	EFO	1	EFO	lung cancer cell line	HCC1534
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006428	"Human lung adenocarcinoma cell line" []	562545	\N	\N	EFO	2	EFO	cancer cell line	HCC1534
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006428	"Human lung adenocarcinoma cell line" []	1144025	\N	\N	EFO	3	EFO	cell line	HCC1534
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006428	"Human lung adenocarcinoma cell line" []	2026645	\N	\N	EFO	4	EFO	material entity	HCC1534
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006428	"Human lung adenocarcinoma cell line" []	3178674	\N	\N	EFO	5	EFO	experimental factor	HCC1534
EFO:0006429	\N	\N	"Human adrenal gland tumour cell line" []	EFO:0006429	"Human adrenal gland tumour cell line" []	67707	\N	\N	EFO	0	EFO	HCC1576	HCC1576
EFO:0000322	EFO:0006429	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006429	"Human adrenal gland tumour cell line" []	209371	\N	\N	EFO	1	EFO	cell line	HCC1576
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006429	"Human adrenal gland tumour cell line" []	562546	\N	\N	EFO	2	EFO	material entity	HCC1576
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006429	"Human adrenal gland tumour cell line" []	1144026	\N	\N	EFO	3	EFO	experimental factor	HCC1576
EFO:0006430	\N	\N	"Human lung adenocarcinoma cell line from 64-year-old Caucasian female patient" []	EFO:0006430	"Human lung adenocarcinoma cell line from 64-year-old Caucasian female patient" []	67708	\N	\N	EFO	0	EFO	HCC2270	HCC2270
EFO:0002934	EFO:0006430	\N	"" []	EFO:0006430	"Human lung adenocarcinoma cell line from 64-year-old Caucasian female patient" []	209372	\N	\N	EFO	1	EFO	lung cancer cell line	HCC2270
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006430	"Human lung adenocarcinoma cell line from 64-year-old Caucasian female patient" []	562547	\N	\N	EFO	2	EFO	cancer cell line	HCC2270
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006430	"Human lung adenocarcinoma cell line from 64-year-old Caucasian female patient" []	1144027	\N	\N	EFO	3	EFO	cell line	HCC2270
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006430	"Human lung adenocarcinoma cell line from 64-year-old Caucasian female patient" []	2026646	\N	\N	EFO	4	EFO	material entity	HCC2270
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006430	"Human lung adenocarcinoma cell line from 64-year-old Caucasian female patient" []	3178675	\N	\N	EFO	5	EFO	experimental factor	HCC2270
EFO:0006431	\N	\N	"Human lung adenocarcinoma cell line from 52-year-old Asian female patient" []	EFO:0006431	"Human lung adenocarcinoma cell line from 52-year-old Asian female patient" []	67709	\N	\N	EFO	0	EFO	HCC2279	HCC2279
EFO:0002934	EFO:0006431	\N	"" []	EFO:0006431	"Human lung adenocarcinoma cell line from 52-year-old Asian female patient" []	209373	\N	\N	EFO	1	EFO	lung cancer cell line	HCC2279
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006431	"Human lung adenocarcinoma cell line from 52-year-old Asian female patient" []	562548	\N	\N	EFO	2	EFO	cancer cell line	HCC2279
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006431	"Human lung adenocarcinoma cell line from 52-year-old Asian female patient" []	1144028	\N	\N	EFO	3	EFO	cell line	HCC2279
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006431	"Human lung adenocarcinoma cell line from 52-year-old Asian female patient" []	2026647	\N	\N	EFO	4	EFO	material entity	HCC2279
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006431	"Human lung adenocarcinoma cell line from 52-year-old Asian female patient" []	3178676	\N	\N	EFO	5	EFO	experimental factor	HCC2279
EFO:0006432	\N	\N	"Human lung adenocarcinoma cell line" []	EFO:0006432	"Human lung adenocarcinoma cell line" []	67710	\N	\N	EFO	0	EFO	HCC2302	HCC2302
EFO:0002934	EFO:0006432	\N	"" []	EFO:0006432	"Human lung adenocarcinoma cell line" []	209374	\N	\N	EFO	1	EFO	lung cancer cell line	HCC2302
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006432	"Human lung adenocarcinoma cell line" []	562549	\N	\N	EFO	2	EFO	cancer cell line	HCC2302
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006432	"Human lung adenocarcinoma cell line" []	1144029	\N	\N	EFO	3	EFO	cell line	HCC2302
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006432	"Human lung adenocarcinoma cell line" []	2026648	\N	\N	EFO	4	EFO	material entity	HCC2302
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006432	"Human lung adenocarcinoma cell line" []	3178677	\N	\N	EFO	5	EFO	experimental factor	HCC2302
EFO:0006433	\N	\N	"Human breast ductal carcinoma cell line from a female patient" []	EFO:0006433	"Human breast ductal carcinoma cell line from a female patient" []	67711	\N	\N	EFO	0	EFO	HCC2688	HCC2688
EFO:0001639	EFO:0006433	\N	"" []	EFO:0006433	"Human breast ductal carcinoma cell line from a female patient" []	209375	\N	\N	EFO	1	EFO	cancer cell line	HCC2688
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006433	"Human breast ductal carcinoma cell line from a female patient" []	562550	\N	\N	EFO	2	EFO	cell line	HCC2688
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006433	"Human breast ductal carcinoma cell line from a female patient" []	1144030	\N	\N	EFO	3	EFO	material entity	HCC2688
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006433	"Human breast ductal carcinoma cell line from a female patient" []	2026649	\N	\N	EFO	4	EFO	experimental factor	HCC2688
EFO:0006434	\N	\N	"Human non small cell lung carcinoma cell line" []	EFO:0006434	"Human non small cell lung carcinoma cell line" []	67712	\N	\N	EFO	0	EFO	HCC2885	HCC2885
EFO:0002934	EFO:0006434	\N	"" []	EFO:0006434	"Human non small cell lung carcinoma cell line" []	209376	\N	\N	EFO	1	EFO	lung cancer cell line	HCC2885
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006434	"Human non small cell lung carcinoma cell line" []	562551	\N	\N	EFO	2	EFO	cancer cell line	HCC2885
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006434	"Human non small cell lung carcinoma cell line" []	1144031	\N	\N	EFO	3	EFO	cell line	HCC2885
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006434	"Human non small cell lung carcinoma cell line" []	2026650	\N	\N	EFO	4	EFO	material entity	HCC2885
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006434	"Human non small cell lung carcinoma cell line" []	3178678	\N	\N	EFO	5	EFO	experimental factor	HCC2885
EFO:0006435	\N	\N	"Human breast carcinoma cell line" []	EFO:0006435	"Human breast carcinoma cell line" []	67713	\N	\N	EFO	0	EFO	HCC2911	HCC2911
EFO:0002885	EFO:0006435	\N	"" []	EFO:0006435	"Human breast carcinoma cell line" []	209377	\N	\N	EFO	1	EFO	breast cancer cell line	HCC2911
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006435	"Human breast carcinoma cell line" []	562552	\N	\N	EFO	2	EFO	cancer cell line	HCC2911
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006435	"Human breast carcinoma cell line" []	1144032	\N	\N	EFO	3	EFO	cell line	HCC2911
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006435	"Human breast carcinoma cell line" []	2026651	\N	\N	EFO	4	EFO	material entity	HCC2911
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006435	"Human breast carcinoma cell line" []	3178679	\N	\N	EFO	5	EFO	experimental factor	HCC2911
EFO:0006436	\N	\N	"Human lung adenocarcinoma cell line from a 53-year-old Caucasian male patient" []	EFO:0006436	"Human lung adenocarcinoma cell line from a 53-year-old Caucasian male patient" []	67714	\N	\N	EFO	0	EFO	HCC4011	HCC4011
EFO:0002934	EFO:0006436	\N	"" []	EFO:0006436	"Human lung adenocarcinoma cell line from a 53-year-old Caucasian male patient" []	209378	\N	\N	EFO	1	EFO	lung cancer cell line	HCC4011
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006436	"Human lung adenocarcinoma cell line from a 53-year-old Caucasian male patient" []	562553	\N	\N	EFO	2	EFO	cancer cell line	HCC4011
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006436	"Human lung adenocarcinoma cell line from a 53-year-old Caucasian male patient" []	1144033	\N	\N	EFO	3	EFO	cell line	HCC4011
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006436	"Human lung adenocarcinoma cell line from a 53-year-old Caucasian male patient" []	2026652	\N	\N	EFO	4	EFO	material entity	HCC4011
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006436	"Human lung adenocarcinoma cell line from a 53-year-old Caucasian male patient" []	3178680	\N	\N	EFO	5	EFO	experimental factor	HCC4011
EFO:0006437	\N	\N	"Human non small cell lung carcinoma cell line from a 62-year-old Caucasian female patient" []	EFO:0006437	"Human non small cell lung carcinoma cell line from a 62-year-old Caucasian female patient" []	67715	\N	\N	EFO	0	EFO	HCC4017	HCC4017
EFO:0002934	EFO:0006437	\N	"" []	EFO:0006437	"Human non small cell lung carcinoma cell line from a 62-year-old Caucasian female patient" []	209379	\N	\N	EFO	1	EFO	lung cancer cell line	HCC4017
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006437	"Human non small cell lung carcinoma cell line from a 62-year-old Caucasian female patient" []	562554	\N	\N	EFO	2	EFO	cancer cell line	HCC4017
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006437	"Human non small cell lung carcinoma cell line from a 62-year-old Caucasian female patient" []	1144034	\N	\N	EFO	3	EFO	cell line	HCC4017
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006437	"Human non small cell lung carcinoma cell line from a 62-year-old Caucasian female patient" []	2026653	\N	\N	EFO	4	EFO	material entity	HCC4017
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006437	"Human non small cell lung carcinoma cell line from a 62-year-old Caucasian female patient" []	3178681	\N	\N	EFO	5	EFO	experimental factor	HCC4017
EFO:0006438	\N	\N	"Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." []	EFO:0006438	"Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." []	67716	\N	\N	EFO	0	EFO	HEp-2	HEp-2
BTO:0001967	\N	\N	"" []	EFO:0006438	"Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." []	194780	\N	\N	EFO	0	EFO	cervical cancer cell line	HEp-2
EFO:0001641	EFO:0006438	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006438	"Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." []	209380	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HEp-2
EFO:0002888	EFO:0006438	\N	"" []	EFO:0006438	"Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." []	209381	\N	\N	EFO	1	EFO	Homo sapiens cell line	HEp-2
EFO:0005218	EFO:0006438	\N	"A cell line which is used as a model for cervical carcinoma." []	EFO:0006438	"Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." []	209382	\N	\N	EFO	1	EFO	cervical carcinoma cell line	HEp-2
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006438	"Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." []	562555	\N	\N	EFO	2	EFO	cell line	HEp-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006438	"Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." []	562556	\N	\N	EFO	2	EFO	cell line	HEp-2
EFO:0001639	EFO:0005218	\N	"" []	EFO:0006438	"Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." []	562557	\N	\N	EFO	2	EFO	cancer cell line	HEp-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006438	"Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." []	2026655	\N	\N	EFO	4	EFO	material entity	HEp-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006438	"Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." []	1144036	\N	\N	EFO	3	EFO	cell line	HEp-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006438	"Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. The cells are positive for keratin by immunoperoxidase staining. ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR." []	2999684	\N	\N	EFO	5	EFO	experimental factor	HEp-2
EFO:0006439	\N	\N	"Human non small cell lung carcinoma cell line" []	EFO:0006439	"Human non small cell lung carcinoma cell line" []	67717	\N	\N	EFO	0	EFO	HOP62	HOP62
EFO:0001641	EFO:0006439	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006439	"Human non small cell lung carcinoma cell line" []	209383	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HOP62
EFO:0002888	EFO:0006439	\N	"" []	EFO:0006439	"Human non small cell lung carcinoma cell line" []	209384	\N	\N	EFO	1	EFO	Homo sapiens cell line	HOP62
EFO:0002934	EFO:0006439	\N	"" []	EFO:0006439	"Human non small cell lung carcinoma cell line" []	209385	\N	\N	EFO	1	EFO	lung cancer cell line	HOP62
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006439	"Human non small cell lung carcinoma cell line" []	562558	\N	\N	EFO	2	EFO	cell line	HOP62
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006439	"Human non small cell lung carcinoma cell line" []	562559	\N	\N	EFO	2	EFO	cell line	HOP62
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006439	"Human non small cell lung carcinoma cell line" []	562560	\N	\N	EFO	2	EFO	cancer cell line	HOP62
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006439	"Human non small cell lung carcinoma cell line" []	2026657	\N	\N	EFO	4	EFO	material entity	HOP62
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006439	"Human non small cell lung carcinoma cell line" []	1144038	\N	\N	EFO	3	EFO	cell line	HOP62
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006439	"Human non small cell lung carcinoma cell line" []	2999685	\N	\N	EFO	5	EFO	experimental factor	HOP62
EFO:0006440	\N	\N	"Human large cell carcinoma cell line" []	EFO:0006440	"Human large cell carcinoma cell line" []	67718	\N	\N	EFO	0	EFO	HOP92	HOP92
EFO:0002934	EFO:0006440	\N	"" []	EFO:0006440	"Human large cell carcinoma cell line" []	209386	\N	\N	EFO	1	EFO	lung cancer cell line	HOP92
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006440	"Human large cell carcinoma cell line" []	562561	\N	\N	EFO	2	EFO	cancer cell line	HOP92
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006440	"Human large cell carcinoma cell line" []	1144039	\N	\N	EFO	3	EFO	cell line	HOP92
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006440	"Human large cell carcinoma cell line" []	2026658	\N	\N	EFO	4	EFO	material entity	HOP92
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006440	"Human large cell carcinoma cell line" []	3178682	\N	\N	EFO	5	EFO	experimental factor	HOP92
EFO:0006441	\N	\N	"Human glioma cell line (ATCC catalog number HTB-138)" []	EFO:0006441	"Human glioma cell line (ATCC catalog number HTB-138)" []	67719	\N	\N	EFO	0	EFO	Hs 683	Hs 683
EFO:0001639	EFO:0006441	\N	"" []	EFO:0006441	"Human glioma cell line (ATCC catalog number HTB-138)" []	209387	\N	\N	EFO	1	EFO	cancer cell line	Hs 683
EFO:0002009	EFO:0006441	\N	"" []	EFO:0006441	"Human glioma cell line (ATCC catalog number HTB-138)" []	209388	\N	\N	EFO	1	EFO	fibroblast derived cell line	Hs 683
EFO:0002888	EFO:0006441	\N	"" []	EFO:0006441	"Human glioma cell line (ATCC catalog number HTB-138)" []	209389	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 683
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006441	"Human glioma cell line (ATCC catalog number HTB-138)" []	562562	\N	\N	EFO	2	EFO	cell line	Hs 683
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006441	"Human glioma cell line (ATCC catalog number HTB-138)" []	562563	\N	\N	EFO	2	EFO	cell line	Hs 683
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006441	"Human glioma cell line (ATCC catalog number HTB-138)" []	562564	\N	\N	EFO	2	EFO	cell line	Hs 683
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006441	"Human glioma cell line (ATCC catalog number HTB-138)" []	1144040	\N	\N	EFO	3	EFO	material entity	Hs 683
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006441	"Human glioma cell line (ATCC catalog number HTB-138)" []	2026659	\N	\N	EFO	4	EFO	experimental factor	Hs 683
EFO:0006442	\N	\N	"Human colon carcinoma cell line. Cells possess Ca antigen as defined by the Ca1 antibody. The Ca antigen has been shown to be absent in non-malignant human cell strains and is considered to be a marker linked with malignancy. Island cell growth will degenerate if left more than 9 days between passages. (Sigma-Aldrich catalog number 85061104)" []	EFO:0006442	"Human colon carcinoma cell line. Cells possess Ca antigen as defined by the Ca1 antibody. The Ca antigen has been shown to be absent in non-malignant human cell strains and is considered to be a marker linked with malignancy. Island cell growth will degenerate if left more than 9 days between passages. (Sigma-Aldrich catalog number 85061104)" []	67720	\N	\N	EFO	0	EFO	HT115	HT115
BTO:0001616	\N	\N	"" []	EFO:0006442	"Human colon carcinoma cell line. Cells possess Ca antigen as defined by the Ca1 antibody. The Ca antigen has been shown to be absent in non-malignant human cell strains and is considered to be a marker linked with malignancy. Island cell growth will degenerate if left more than 9 days between passages. (Sigma-Aldrich catalog number 85061104)" []	194781	\N	\N	EFO	0	EFO	colorectal cancer cell line	HT115
BTO:0003250	\N	\N	"" []	EFO:0006442	"Human colon carcinoma cell line. Cells possess Ca antigen as defined by the Ca1 antibody. The Ca antigen has been shown to be absent in non-malignant human cell strains and is considered to be a marker linked with malignancy. Island cell growth will degenerate if left more than 9 days between passages. (Sigma-Aldrich catalog number 85061104)" []	194782	\N	\N	EFO	0	EFO	colonic epithelium cell line	HT115
EFO:0002888	EFO:0006442	\N	"" []	EFO:0006442	"Human colon carcinoma cell line. Cells possess Ca antigen as defined by the Ca1 antibody. The Ca antigen has been shown to be absent in non-malignant human cell strains and is considered to be a marker linked with malignancy. Island cell growth will degenerate if left more than 9 days between passages. (Sigma-Aldrich catalog number 85061104)" []	209390	\N	\N	EFO	1	EFO	Homo sapiens cell line	HT115
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006442	"Human colon carcinoma cell line. Cells possess Ca antigen as defined by the Ca1 antibody. The Ca antigen has been shown to be absent in non-malignant human cell strains and is considered to be a marker linked with malignancy. Island cell growth will degenerate if left more than 9 days between passages. (Sigma-Aldrich catalog number 85061104)" []	562565	\N	\N	EFO	2	EFO	cell line	HT115
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006442	"Human colon carcinoma cell line. Cells possess Ca antigen as defined by the Ca1 antibody. The Ca antigen has been shown to be absent in non-malignant human cell strains and is considered to be a marker linked with malignancy. Island cell growth will degenerate if left more than 9 days between passages. (Sigma-Aldrich catalog number 85061104)" []	1144041	\N	\N	EFO	3	EFO	material entity	HT115
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006442	"Human colon carcinoma cell line. Cells possess Ca antigen as defined by the Ca1 antibody. The Ca antigen has been shown to be absent in non-malignant human cell strains and is considered to be a marker linked with malignancy. Island cell growth will degenerate if left more than 9 days between passages. (Sigma-Aldrich catalog number 85061104)" []	2026660	\N	\N	EFO	4	EFO	experimental factor	HT115
EFO:0006443	\N	\N	"Human malignant melanoma cell line derived from metastatis in subcutaneous tissue from a 29-year-old male Caucasian patient. (ATCC catalog number HTB-63)" []	EFO:0006443	"Human malignant melanoma cell line derived from metastatis in subcutaneous tissue from a 29-year-old male Caucasian patient. (ATCC catalog number HTB-63)" []	67721	\N	\N	EFO	0	EFO	HT144	HT144
BTO:0000849	EFO:0006443	\N	"" []	EFO:0006443	"Human malignant melanoma cell line derived from metastatis in subcutaneous tissue from a 29-year-old male Caucasian patient. (ATCC catalog number HTB-63)" []	209391	\N	\N	EFO	1	EFO	melanoma cell line	HT144
EFO:0002009	EFO:0006443	\N	"" []	EFO:0006443	"Human malignant melanoma cell line derived from metastatis in subcutaneous tissue from a 29-year-old male Caucasian patient. (ATCC catalog number HTB-63)" []	209392	\N	\N	EFO	1	EFO	fibroblast derived cell line	HT144
EFO:0002888	EFO:0006443	\N	"" []	EFO:0006443	"Human malignant melanoma cell line derived from metastatis in subcutaneous tissue from a 29-year-old male Caucasian patient. (ATCC catalog number HTB-63)" []	209393	\N	\N	EFO	1	EFO	Homo sapiens cell line	HT144
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006443	"Human malignant melanoma cell line derived from metastatis in subcutaneous tissue from a 29-year-old male Caucasian patient. (ATCC catalog number HTB-63)" []	562566	\N	\N	EFO	2	EFO	cancer cell line	HT144
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006443	"Human malignant melanoma cell line derived from metastatis in subcutaneous tissue from a 29-year-old male Caucasian patient. (ATCC catalog number HTB-63)" []	562567	\N	\N	EFO	2	EFO	cell line	HT144
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006443	"Human malignant melanoma cell line derived from metastatis in subcutaneous tissue from a 29-year-old male Caucasian patient. (ATCC catalog number HTB-63)" []	562568	\N	\N	EFO	2	EFO	cell line	HT144
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006443	"Human malignant melanoma cell line derived from metastatis in subcutaneous tissue from a 29-year-old male Caucasian patient. (ATCC catalog number HTB-63)" []	1144042	\N	\N	EFO	3	EFO	cell line	HT144
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006443	"Human malignant melanoma cell line derived from metastatis in subcutaneous tissue from a 29-year-old male Caucasian patient. (ATCC catalog number HTB-63)" []	2026661	\N	\N	EFO	4	EFO	material entity	HT144
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006443	"Human malignant melanoma cell line derived from metastatis in subcutaneous tissue from a 29-year-old male Caucasian patient. (ATCC catalog number HTB-63)" []	2999686	\N	\N	EFO	5	EFO	experimental factor	HT144
EFO:0006444	\N	\N	"Human colon carcinoma cell line (Sigma-Aldrich catalog number 85061105)" []	EFO:0006444	"Human colon carcinoma cell line (Sigma-Aldrich catalog number 85061105)" []	67722	\N	\N	EFO	0	EFO	HT55	HT55
BTO:0001616	\N	\N	"" []	EFO:0006444	"Human colon carcinoma cell line (Sigma-Aldrich catalog number 85061105)" []	194783	\N	\N	EFO	0	EFO	colorectal cancer cell line	HT55
BTO:0003250	\N	\N	"" []	EFO:0006444	"Human colon carcinoma cell line (Sigma-Aldrich catalog number 85061105)" []	194784	\N	\N	EFO	0	EFO	colonic epithelium cell line	HT55
EFO:0002888	EFO:0006444	\N	"" []	EFO:0006444	"Human colon carcinoma cell line (Sigma-Aldrich catalog number 85061105)" []	209394	\N	\N	EFO	1	EFO	Homo sapiens cell line	HT55
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006444	"Human colon carcinoma cell line (Sigma-Aldrich catalog number 85061105)" []	562569	\N	\N	EFO	2	EFO	cell line	HT55
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006444	"Human colon carcinoma cell line (Sigma-Aldrich catalog number 85061105)" []	1144044	\N	\N	EFO	3	EFO	material entity	HT55
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006444	"Human colon carcinoma cell line (Sigma-Aldrich catalog number 85061105)" []	2026663	\N	\N	EFO	4	EFO	experimental factor	HT55
EFO:0006445	\N	\N	"Human hepatocellular carcinoma cell line" []	EFO:0006445	"Human hepatocellular carcinoma cell line" []	67723	\N	\N	EFO	0	EFO	huH-1	huH-1
EFO:0005216	EFO:0006445	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0006445	"Human hepatocellular carcinoma cell line" []	209395	\N	\N	EFO	1	EFO	hepatoma cell line	huH-1
EFO:0001639	EFO:0005216	\N	"" []	EFO:0006445	"Human hepatocellular carcinoma cell line" []	562570	\N	\N	EFO	2	EFO	cancer cell line	huH-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006445	"Human hepatocellular carcinoma cell line" []	1144045	\N	\N	EFO	3	EFO	cell line	huH-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006445	"Human hepatocellular carcinoma cell line" []	2026664	\N	\N	EFO	4	EFO	material entity	huH-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006445	"Human hepatocellular carcinoma cell line" []	3178683	\N	\N	EFO	5	EFO	experimental factor	huH-1
EFO:0006446	\N	\N	"Human adenocarcinoma cell line from a 63-year-old Japanese male patient with moderately differentiated adenocarcinoma of the stomach" []	EFO:0006446	"Human adenocarcinoma cell line from a 63-year-old Japanese male patient with moderately differentiated adenocarcinoma of the stomach" []	67724	\N	\N	EFO	0	EFO	IM-95	IM-95
EFO:0001639	EFO:0006446	\N	"" []	EFO:0006446	"Human adenocarcinoma cell line from a 63-year-old Japanese male patient with moderately differentiated adenocarcinoma of the stomach" []	209396	\N	\N	EFO	1	EFO	cancer cell line	IM-95
EFO:0001641	EFO:0006446	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006446	"Human adenocarcinoma cell line from a 63-year-old Japanese male patient with moderately differentiated adenocarcinoma of the stomach" []	209397	\N	\N	EFO	1	EFO	epithelial cell derived cell line	IM-95
EFO:0002888	EFO:0006446	\N	"" []	EFO:0006446	"Human adenocarcinoma cell line from a 63-year-old Japanese male patient with moderately differentiated adenocarcinoma of the stomach" []	209398	\N	\N	EFO	1	EFO	Homo sapiens cell line	IM-95
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006446	"Human adenocarcinoma cell line from a 63-year-old Japanese male patient with moderately differentiated adenocarcinoma of the stomach" []	562571	\N	\N	EFO	2	EFO	cell line	IM-95
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006446	"Human adenocarcinoma cell line from a 63-year-old Japanese male patient with moderately differentiated adenocarcinoma of the stomach" []	562572	\N	\N	EFO	2	EFO	cell line	IM-95
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006446	"Human adenocarcinoma cell line from a 63-year-old Japanese male patient with moderately differentiated adenocarcinoma of the stomach" []	562573	\N	\N	EFO	2	EFO	cell line	IM-95
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006446	"Human adenocarcinoma cell line from a 63-year-old Japanese male patient with moderately differentiated adenocarcinoma of the stomach" []	1144046	\N	\N	EFO	3	EFO	material entity	IM-95
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006446	"Human adenocarcinoma cell line from a 63-year-old Japanese male patient with moderately differentiated adenocarcinoma of the stomach" []	2026665	\N	\N	EFO	4	EFO	experimental factor	IM-95
EFO:0006447	\N	\N	"Human melanoma cell line established from the primary tumor (right cervical) of a 64-year-old woman with cutaneous melanoma. (DSMZ catalog number ACC 251)" []	EFO:0006447	"Human melanoma cell line established from the primary tumor (right cervical) of a 64-year-old woman with cutaneous melanoma. (DSMZ catalog number ACC 251)" []	67725	\N	\N	EFO	0	EFO	IPC-298	IPC-298
BTO:0000849	EFO:0006447	\N	"" []	EFO:0006447	"Human melanoma cell line established from the primary tumor (right cervical) of a 64-year-old woman with cutaneous melanoma. (DSMZ catalog number ACC 251)" []	209399	\N	\N	EFO	1	EFO	melanoma cell line	IPC-298
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006447	"Human melanoma cell line established from the primary tumor (right cervical) of a 64-year-old woman with cutaneous melanoma. (DSMZ catalog number ACC 251)" []	562574	\N	\N	EFO	2	EFO	cancer cell line	IPC-298
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006447	"Human melanoma cell line established from the primary tumor (right cervical) of a 64-year-old woman with cutaneous melanoma. (DSMZ catalog number ACC 251)" []	1144047	\N	\N	EFO	3	EFO	cell line	IPC-298
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006447	"Human melanoma cell line established from the primary tumor (right cervical) of a 64-year-old woman with cutaneous melanoma. (DSMZ catalog number ACC 251)" []	2026666	\N	\N	EFO	4	EFO	material entity	IPC-298
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006447	"Human melanoma cell line established from the primary tumor (right cervical) of a 64-year-old woman with cutaneous melanoma. (DSMZ catalog number ACC 251)" []	3178684	\N	\N	EFO	5	EFO	experimental factor	IPC-298
EFO:0006448	\N	\N	"Human malignant epithelioid mesothelioma cell line established from the untreated malignant epithelioid mesothelioma of the pleura of a 54-year-old man with asbestos cancer in 2003 (DSMZ catalog number ACC 596)" []	EFO:0006448	"Human malignant epithelioid mesothelioma cell line established from the untreated malignant epithelioid mesothelioma of the pleura of a 54-year-old man with asbestos cancer in 2003 (DSMZ catalog number ACC 596)" []	67726	\N	\N	EFO	0	EFO	JL-1	JL-1
EFO:0001639	EFO:0006448	\N	"" []	EFO:0006448	"Human malignant epithelioid mesothelioma cell line established from the untreated malignant epithelioid mesothelioma of the pleura of a 54-year-old man with asbestos cancer in 2003 (DSMZ catalog number ACC 596)" []	209400	\N	\N	EFO	1	EFO	cancer cell line	JL-1
EFO:0001641	EFO:0006448	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006448	"Human malignant epithelioid mesothelioma cell line established from the untreated malignant epithelioid mesothelioma of the pleura of a 54-year-old man with asbestos cancer in 2003 (DSMZ catalog number ACC 596)" []	209401	\N	\N	EFO	1	EFO	epithelial cell derived cell line	JL-1
EFO:0002888	EFO:0006448	\N	"" []	EFO:0006448	"Human malignant epithelioid mesothelioma cell line established from the untreated malignant epithelioid mesothelioma of the pleura of a 54-year-old man with asbestos cancer in 2003 (DSMZ catalog number ACC 596)" []	209402	\N	\N	EFO	1	EFO	Homo sapiens cell line	JL-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006448	"Human malignant epithelioid mesothelioma cell line established from the untreated malignant epithelioid mesothelioma of the pleura of a 54-year-old man with asbestos cancer in 2003 (DSMZ catalog number ACC 596)" []	562575	\N	\N	EFO	2	EFO	cell line	JL-1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006448	"Human malignant epithelioid mesothelioma cell line established from the untreated malignant epithelioid mesothelioma of the pleura of a 54-year-old man with asbestos cancer in 2003 (DSMZ catalog number ACC 596)" []	562576	\N	\N	EFO	2	EFO	cell line	JL-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006448	"Human malignant epithelioid mesothelioma cell line established from the untreated malignant epithelioid mesothelioma of the pleura of a 54-year-old man with asbestos cancer in 2003 (DSMZ catalog number ACC 596)" []	562577	\N	\N	EFO	2	EFO	cell line	JL-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006448	"Human malignant epithelioid mesothelioma cell line established from the untreated malignant epithelioid mesothelioma of the pleura of a 54-year-old man with asbestos cancer in 2003 (DSMZ catalog number ACC 596)" []	1144048	\N	\N	EFO	3	EFO	material entity	JL-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006448	"Human malignant epithelioid mesothelioma cell line established from the untreated malignant epithelioid mesothelioma of the pleura of a 54-year-old man with asbestos cancer in 2003 (DSMZ catalog number ACC 596)" []	2026667	\N	\N	EFO	4	EFO	experimental factor	JL-1
EFO:0006449	\N	\N	"human plasma cell leukemia established from the peripheral blood of a 77-year-old woman at diagnosis of plasma cell leukemia (IgGkappa) in 1987; plasma cell leukemia is related to multiple myeloma confirmed as human by cytogenetics" []	EFO:0006449	"human plasma cell leukemia established from the peripheral blood of a 77-year-old woman at diagnosis of plasma cell leukemia (IgGkappa) in 1987; plasma cell leukemia is related to multiple myeloma confirmed as human by cytogenetics" []	67727	\N	\N	EFO	0	EFO	KARPAS-620	KARPAS-620
EFO:0001639	EFO:0006449	\N	"" []	EFO:0006449	"human plasma cell leukemia established from the peripheral blood of a 77-year-old woman at diagnosis of plasma cell leukemia (IgGkappa) in 1987; plasma cell leukemia is related to multiple myeloma confirmed as human by cytogenetics" []	209403	\N	\N	EFO	1	EFO	cancer cell line	KARPAS-620
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006449	"human plasma cell leukemia established from the peripheral blood of a 77-year-old woman at diagnosis of plasma cell leukemia (IgGkappa) in 1987; plasma cell leukemia is related to multiple myeloma confirmed as human by cytogenetics" []	562578	\N	\N	EFO	2	EFO	cell line	KARPAS-620
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006449	"human plasma cell leukemia established from the peripheral blood of a 77-year-old woman at diagnosis of plasma cell leukemia (IgGkappa) in 1987; plasma cell leukemia is related to multiple myeloma confirmed as human by cytogenetics" []	1144049	\N	\N	EFO	3	EFO	material entity	KARPAS-620
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006449	"human plasma cell leukemia established from the peripheral blood of a 77-year-old woman at diagnosis of plasma cell leukemia (IgGkappa) in 1987; plasma cell leukemia is related to multiple myeloma confirmed as human by cytogenetics" []	2026668	\N	\N	EFO	4	EFO	experimental factor	KARPAS-620
EFO:0006450	\N	\N	"human plasma cell leukemia cell line established from the peripheral blood of a 36-year-old woman with plasma cell leukemia (IgG) in 1977; cells were described to be EBNA-negative and to express mRNA for proto-oncogene BCL2; plasma cell leukemia is related to multiple myeloma. (DSMZ catalog number ACC 49)" []	EFO:0006450	"human plasma cell leukemia cell line established from the peripheral blood of a 36-year-old woman with plasma cell leukemia (IgG) in 1977; cells were described to be EBNA-negative and to express mRNA for proto-oncogene BCL2; plasma cell leukemia is related to multiple myeloma. (DSMZ catalog number ACC 49)" []	67728	\N	\N	EFO	0	EFO	L-363	L-363
EFO:0001639	EFO:0006450	\N	"" []	EFO:0006450	"human plasma cell leukemia cell line established from the peripheral blood of a 36-year-old woman with plasma cell leukemia (IgG) in 1977; cells were described to be EBNA-negative and to express mRNA for proto-oncogene BCL2; plasma cell leukemia is related to multiple myeloma. (DSMZ catalog number ACC 49)" []	209404	\N	\N	EFO	1	EFO	cancer cell line	L-363
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006450	"human plasma cell leukemia cell line established from the peripheral blood of a 36-year-old woman with plasma cell leukemia (IgG) in 1977; cells were described to be EBNA-negative and to express mRNA for proto-oncogene BCL2; plasma cell leukemia is related to multiple myeloma. (DSMZ catalog number ACC 49)" []	562579	\N	\N	EFO	2	EFO	cell line	L-363
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006450	"human plasma cell leukemia cell line established from the peripheral blood of a 36-year-old woman with plasma cell leukemia (IgG) in 1977; cells were described to be EBNA-negative and to express mRNA for proto-oncogene BCL2; plasma cell leukemia is related to multiple myeloma. (DSMZ catalog number ACC 49)" []	1144050	\N	\N	EFO	3	EFO	material entity	L-363
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006450	"human plasma cell leukemia cell line established from the peripheral blood of a 36-year-old woman with plasma cell leukemia (IgG) in 1977; cells were described to be EBNA-negative and to express mRNA for proto-oncogene BCL2; plasma cell leukemia is related to multiple myeloma. (DSMZ catalog number ACC 49)" []	2026669	\N	\N	EFO	4	EFO	experimental factor	L-363
EFO:0006451	\N	\N	"M059K cells were isolated from a tumor specimen from a 33 year-old male patient with untreated glioblastoma. (ATCC catalog number CRL-2365)" []	EFO:0006451	"M059K cells were isolated from a tumor specimen from a 33 year-old male patient with untreated glioblastoma. (ATCC catalog number CRL-2365)" []	67729	\N	\N	EFO	0	EFO	M059K	M059K
EFO:0001639	EFO:0006451	\N	"" []	EFO:0006451	"M059K cells were isolated from a tumor specimen from a 33 year-old male patient with untreated glioblastoma. (ATCC catalog number CRL-2365)" []	209405	\N	\N	EFO	1	EFO	cancer cell line	M059K
EFO:0002009	EFO:0006451	\N	"" []	EFO:0006451	"M059K cells were isolated from a tumor specimen from a 33 year-old male patient with untreated glioblastoma. (ATCC catalog number CRL-2365)" []	209406	\N	\N	EFO	1	EFO	fibroblast derived cell line	M059K
EFO:0002888	EFO:0006451	\N	"" []	EFO:0006451	"M059K cells were isolated from a tumor specimen from a 33 year-old male patient with untreated glioblastoma. (ATCC catalog number CRL-2365)" []	209407	\N	\N	EFO	1	EFO	Homo sapiens cell line	M059K
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006451	"M059K cells were isolated from a tumor specimen from a 33 year-old male patient with untreated glioblastoma. (ATCC catalog number CRL-2365)" []	562580	\N	\N	EFO	2	EFO	cell line	M059K
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006451	"M059K cells were isolated from a tumor specimen from a 33 year-old male patient with untreated glioblastoma. (ATCC catalog number CRL-2365)" []	562581	\N	\N	EFO	2	EFO	cell line	M059K
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006451	"M059K cells were isolated from a tumor specimen from a 33 year-old male patient with untreated glioblastoma. (ATCC catalog number CRL-2365)" []	562582	\N	\N	EFO	2	EFO	cell line	M059K
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006451	"M059K cells were isolated from a tumor specimen from a 33 year-old male patient with untreated glioblastoma. (ATCC catalog number CRL-2365)" []	1144051	\N	\N	EFO	3	EFO	material entity	M059K
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006451	"M059K cells were isolated from a tumor specimen from a 33 year-old male patient with untreated glioblastoma. (ATCC catalog number CRL-2365)" []	2026670	\N	\N	EFO	4	EFO	experimental factor	M059K
EFO:0006452	\N	\N	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." []	EFO:0006452	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." []	67730	\N	\N	EFO	0	EFO	malignant epithelioid mesothelioma	malignant epithelioid mesothelioma
EFO:0000588	EFO:0006452	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:0006452	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." []	209408	\N	\N	EFO	1	EFO	mesothelioma	malignant epithelioid mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006452	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." []	562583	\N	\N	EFO	2	EFO	cancer	malignant epithelioid mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006452	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." []	1144052	\N	\N	EFO	3	EFO	neoplasm	malignant epithelioid mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006452	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." []	2026671	\N	\N	EFO	4	EFO	disease	malignant epithelioid mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006452	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." []	3178685	\N	\N	EFO	5	EFO	disposition	malignant epithelioid mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006452	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." []	4388350	\N	\N	EFO	6	EFO	material property	malignant epithelioid mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006452	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." []	5408858	\N	\N	EFO	7	EFO	experimental factor	malignant epithelioid mesothelioma
EFO:0006453	\N	\N	"Human ovarian adenocarcinoma cell line" []	EFO:0006453	"Human ovarian adenocarcinoma cell line" []	67731	\N	\N	EFO	0	EFO	MCAS	MCAS
EFO:0002394	EFO:0006453	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006453	"Human ovarian adenocarcinoma cell line" []	209409	\N	\N	EFO	1	EFO	ovarian cancer cell lines	MCAS
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006453	"Human ovarian adenocarcinoma cell line" []	562584	\N	\N	EFO	2	EFO	cancer cell line	MCAS
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006453	"Human ovarian adenocarcinoma cell line" []	1144053	\N	\N	EFO	3	EFO	cell line	MCAS
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006453	"Human ovarian adenocarcinoma cell line" []	2026672	\N	\N	EFO	4	EFO	material entity	MCAS
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006453	"Human ovarian adenocarcinoma cell line" []	3178686	\N	\N	EFO	5	EFO	experimental factor	MCAS
EFO:0006454	\N	\N	"Human breast carcinoma cell line (ATCC catalog number HTB-127)" []	EFO:0006454	"Human breast carcinoma cell line (ATCC catalog number HTB-127)" []	67732	\N	\N	EFO	0	EFO	MDA-MB-330	MDA-MB-330
EFO:0001641	EFO:0006454	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006454	"Human breast carcinoma cell line (ATCC catalog number HTB-127)" []	209410	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MDA-MB-330
EFO:0002885	EFO:0006454	\N	"" []	EFO:0006454	"Human breast carcinoma cell line (ATCC catalog number HTB-127)" []	209411	\N	\N	EFO	1	EFO	breast cancer cell line	MDA-MB-330
EFO:0002888	EFO:0006454	\N	"" []	EFO:0006454	"Human breast carcinoma cell line (ATCC catalog number HTB-127)" []	209412	\N	\N	EFO	1	EFO	Homo sapiens cell line	MDA-MB-330
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006454	"Human breast carcinoma cell line (ATCC catalog number HTB-127)" []	562585	\N	\N	EFO	2	EFO	cell line	MDA-MB-330
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006454	"Human breast carcinoma cell line (ATCC catalog number HTB-127)" []	562586	\N	\N	EFO	2	EFO	cancer cell line	MDA-MB-330
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006454	"Human breast carcinoma cell line (ATCC catalog number HTB-127)" []	562587	\N	\N	EFO	2	EFO	cell line	MDA-MB-330
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006454	"Human breast carcinoma cell line (ATCC catalog number HTB-127)" []	2026674	\N	\N	EFO	4	EFO	material entity	MDA-MB-330
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006454	"Human breast carcinoma cell line (ATCC catalog number HTB-127)" []	1144055	\N	\N	EFO	3	EFO	cell line	MDA-MB-330
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006454	"Human breast carcinoma cell line (ATCC catalog number HTB-127)" []	2999687	\N	\N	EFO	5	EFO	experimental factor	MDA-MB-330
EFO:0006455	\N	\N	"Model of a dopaminergic cell, generated by somatic cell fusion of primary neurons from mouse embryonic Day 14 rostral mesencephalic tegmentum and the neuroblastoma cell line, N18TG2." []	EFO:0006455	"Model of a dopaminergic cell, generated by somatic cell fusion of primary neurons from mouse embryonic Day 14 rostral mesencephalic tegmentum and the neuroblastoma cell line, N18TG2." []	67733	\N	\N	EFO	0	EFO	MN9D	MN9D
EFO:0002887	EFO:0006455	\N	"Cell lines derived from mice." []	EFO:0006455	"Model of a dopaminergic cell, generated by somatic cell fusion of primary neurons from mouse embryonic Day 14 rostral mesencephalic tegmentum and the neuroblastoma cell line, N18TG2." []	209413	\N	\N	EFO	1	EFO	mouse cell line	MN9D
EFO:0005214	EFO:0006455	\N	"A cell line which is a model for neuroblastoma." []	EFO:0006455	"Model of a dopaminergic cell, generated by somatic cell fusion of primary neurons from mouse embryonic Day 14 rostral mesencephalic tegmentum and the neuroblastoma cell line, N18TG2." []	209414	\N	\N	EFO	1	EFO	neuroblastoma cell line	MN9D
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006455	"Model of a dopaminergic cell, generated by somatic cell fusion of primary neurons from mouse embryonic Day 14 rostral mesencephalic tegmentum and the neuroblastoma cell line, N18TG2." []	562588	\N	\N	EFO	2	EFO	cell line	MN9D
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006455	"Model of a dopaminergic cell, generated by somatic cell fusion of primary neurons from mouse embryonic Day 14 rostral mesencephalic tegmentum and the neuroblastoma cell line, N18TG2." []	562589	\N	\N	EFO	2	EFO	cell line	MN9D
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006455	"Model of a dopaminergic cell, generated by somatic cell fusion of primary neurons from mouse embryonic Day 14 rostral mesencephalic tegmentum and the neuroblastoma cell line, N18TG2." []	1144056	\N	\N	EFO	3	EFO	material entity	MN9D
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006455	"Model of a dopaminergic cell, generated by somatic cell fusion of primary neurons from mouse embryonic Day 14 rostral mesencephalic tegmentum and the neuroblastoma cell line, N18TG2." []	2026675	\N	\N	EFO	4	EFO	experimental factor	MN9D
EFO:0006456	\N	\N	"Human cervical epidermoid carcinoma cell line derived from metastatis in lymph node (ATCC catalog number HTB-34)" []	EFO:0006456	"Human cervical epidermoid carcinoma cell line derived from metastatis in lymph node (ATCC catalog number HTB-34)" []	67734	\N	\N	EFO	0	EFO	MS751	MS751
EFO:0001639	EFO:0006456	\N	"" []	EFO:0006456	"Human cervical epidermoid carcinoma cell line derived from metastatis in lymph node (ATCC catalog number HTB-34)" []	209415	\N	\N	EFO	1	EFO	cancer cell line	MS751
EFO:0001641	EFO:0006456	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006456	"Human cervical epidermoid carcinoma cell line derived from metastatis in lymph node (ATCC catalog number HTB-34)" []	209416	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MS751
EFO:0002888	EFO:0006456	\N	"" []	EFO:0006456	"Human cervical epidermoid carcinoma cell line derived from metastatis in lymph node (ATCC catalog number HTB-34)" []	209417	\N	\N	EFO	1	EFO	Homo sapiens cell line	MS751
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006456	"Human cervical epidermoid carcinoma cell line derived from metastatis in lymph node (ATCC catalog number HTB-34)" []	562590	\N	\N	EFO	2	EFO	cell line	MS751
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006456	"Human cervical epidermoid carcinoma cell line derived from metastatis in lymph node (ATCC catalog number HTB-34)" []	562591	\N	\N	EFO	2	EFO	cell line	MS751
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006456	"Human cervical epidermoid carcinoma cell line derived from metastatis in lymph node (ATCC catalog number HTB-34)" []	562592	\N	\N	EFO	2	EFO	cell line	MS751
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006456	"Human cervical epidermoid carcinoma cell line derived from metastatis in lymph node (ATCC catalog number HTB-34)" []	1144057	\N	\N	EFO	3	EFO	material entity	MS751
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006456	"Human cervical epidermoid carcinoma cell line derived from metastatis in lymph node (ATCC catalog number HTB-34)" []	2026676	\N	\N	EFO	4	EFO	experimental factor	MS751
EFO:0006457	\N	\N	"Human breast carcinoma cell line" []	EFO:0006457	"Human breast carcinoma cell line" []	67735	\N	\N	EFO	0	EFO	MX-1	MX-1
EFO:0002885	EFO:0006457	\N	"" []	EFO:0006457	"Human breast carcinoma cell line" []	209418	\N	\N	EFO	1	EFO	breast cancer cell line	MX-1
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006457	"Human breast carcinoma cell line" []	562593	\N	\N	EFO	2	EFO	cancer cell line	MX-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006457	"Human breast carcinoma cell line" []	1144058	\N	\N	EFO	3	EFO	cell line	MX-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006457	"Human breast carcinoma cell line" []	2026677	\N	\N	EFO	4	EFO	material entity	MX-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006457	"Human breast carcinoma cell line" []	3178687	\N	\N	EFO	5	EFO	experimental factor	MX-1
EFO:0006458	\N	\N	"The OV56 cell line was established from ascitic fluid derived from a 46-year-old female patient diagnosed with ovarian cancer. The tumour was characterised as stage IV, poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), weak staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Production of vascular endothelial growth factor (VEGF) has been detected by ELISA. The patient had received sequential treatment with cisplatin and cyclophosphamide, cisplatin and etoposide and subsequently tamoxifen. (Sigma-Aldrich catalog number 96020759)" []	EFO:0006458	"The OV56 cell line was established from ascitic fluid derived from a 46-year-old female patient diagnosed with ovarian cancer. The tumour was characterised as stage IV, poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), weak staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Production of vascular endothelial growth factor (VEGF) has been detected by ELISA. The patient had received sequential treatment with cisplatin and cyclophosphamide, cisplatin and etoposide and subsequently tamoxifen. (Sigma-Aldrich catalog number 96020759)" []	67736	\N	\N	EFO	0	EFO	OV56	OV56
EFO:0001641	EFO:0006458	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006458	"The OV56 cell line was established from ascitic fluid derived from a 46-year-old female patient diagnosed with ovarian cancer. The tumour was characterised as stage IV, poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), weak staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Production of vascular endothelial growth factor (VEGF) has been detected by ELISA. The patient had received sequential treatment with cisplatin and cyclophosphamide, cisplatin and etoposide and subsequently tamoxifen. (Sigma-Aldrich catalog number 96020759)" []	209419	\N	\N	EFO	1	EFO	epithelial cell derived cell line	OV56
EFO:0002394	EFO:0006458	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006458	"The OV56 cell line was established from ascitic fluid derived from a 46-year-old female patient diagnosed with ovarian cancer. The tumour was characterised as stage IV, poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), weak staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Production of vascular endothelial growth factor (VEGF) has been detected by ELISA. The patient had received sequential treatment with cisplatin and cyclophosphamide, cisplatin and etoposide and subsequently tamoxifen. (Sigma-Aldrich catalog number 96020759)" []	209420	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OV56
EFO:0002888	EFO:0006458	\N	"" []	EFO:0006458	"The OV56 cell line was established from ascitic fluid derived from a 46-year-old female patient diagnosed with ovarian cancer. The tumour was characterised as stage IV, poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), weak staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Production of vascular endothelial growth factor (VEGF) has been detected by ELISA. The patient had received sequential treatment with cisplatin and cyclophosphamide, cisplatin and etoposide and subsequently tamoxifen. (Sigma-Aldrich catalog number 96020759)" []	209421	\N	\N	EFO	1	EFO	Homo sapiens cell line	OV56
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006458	"The OV56 cell line was established from ascitic fluid derived from a 46-year-old female patient diagnosed with ovarian cancer. The tumour was characterised as stage IV, poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), weak staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Production of vascular endothelial growth factor (VEGF) has been detected by ELISA. The patient had received sequential treatment with cisplatin and cyclophosphamide, cisplatin and etoposide and subsequently tamoxifen. (Sigma-Aldrich catalog number 96020759)" []	562594	\N	\N	EFO	2	EFO	cell line	OV56
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006458	"The OV56 cell line was established from ascitic fluid derived from a 46-year-old female patient diagnosed with ovarian cancer. The tumour was characterised as stage IV, poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), weak staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Production of vascular endothelial growth factor (VEGF) has been detected by ELISA. The patient had received sequential treatment with cisplatin and cyclophosphamide, cisplatin and etoposide and subsequently tamoxifen. (Sigma-Aldrich catalog number 96020759)" []	562595	\N	\N	EFO	2	EFO	cancer cell line	OV56
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006458	"The OV56 cell line was established from ascitic fluid derived from a 46-year-old female patient diagnosed with ovarian cancer. The tumour was characterised as stage IV, poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), weak staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Production of vascular endothelial growth factor (VEGF) has been detected by ELISA. The patient had received sequential treatment with cisplatin and cyclophosphamide, cisplatin and etoposide and subsequently tamoxifen. (Sigma-Aldrich catalog number 96020759)" []	562596	\N	\N	EFO	2	EFO	cell line	OV56
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006458	"The OV56 cell line was established from ascitic fluid derived from a 46-year-old female patient diagnosed with ovarian cancer. The tumour was characterised as stage IV, poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), weak staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Production of vascular endothelial growth factor (VEGF) has been detected by ELISA. The patient had received sequential treatment with cisplatin and cyclophosphamide, cisplatin and etoposide and subsequently tamoxifen. (Sigma-Aldrich catalog number 96020759)" []	2026679	\N	\N	EFO	4	EFO	material entity	OV56
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006458	"The OV56 cell line was established from ascitic fluid derived from a 46-year-old female patient diagnosed with ovarian cancer. The tumour was characterised as stage IV, poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), weak staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Production of vascular endothelial growth factor (VEGF) has been detected by ELISA. The patient had received sequential treatment with cisplatin and cyclophosphamide, cisplatin and etoposide and subsequently tamoxifen. (Sigma-Aldrich catalog number 96020759)" []	1144060	\N	\N	EFO	3	EFO	cell line	OV56
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006458	"The OV56 cell line was established from ascitic fluid derived from a 46-year-old female patient diagnosed with ovarian cancer. The tumour was characterised as stage IV, poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), weak staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Production of vascular endothelial growth factor (VEGF) has been detected by ELISA. The patient had received sequential treatment with cisplatin and cyclophosphamide, cisplatin and etoposide and subsequently tamoxifen. (Sigma-Aldrich catalog number 96020759)" []	2999688	\N	\N	EFO	5	EFO	experimental factor	OV56
EFO:0006459	\N	\N	"The OV7 cell line was established from solid ovarian tumour tissue taken from a 78-year-old female patient. The tumour was characterised as stage III, mixed tumour type and poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), no staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Detection of mRNA expression of vascular endothelial growth factor (VEGF) and its receptors flt and KDR has been reported. The patient had received treatment with chlorambucil. (Sigma-Aldrich catalog number 96020764)" []	EFO:0006459	"The OV7 cell line was established from solid ovarian tumour tissue taken from a 78-year-old female patient. The tumour was characterised as stage III, mixed tumour type and poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), no staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Detection of mRNA expression of vascular endothelial growth factor (VEGF) and its receptors flt and KDR has been reported. The patient had received treatment with chlorambucil. (Sigma-Aldrich catalog number 96020764)" []	67737	\N	\N	EFO	0	EFO	OV7	OV7
EFO:0001641	EFO:0006459	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006459	"The OV7 cell line was established from solid ovarian tumour tissue taken from a 78-year-old female patient. The tumour was characterised as stage III, mixed tumour type and poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), no staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Detection of mRNA expression of vascular endothelial growth factor (VEGF) and its receptors flt and KDR has been reported. The patient had received treatment with chlorambucil. (Sigma-Aldrich catalog number 96020764)" []	209422	\N	\N	EFO	1	EFO	epithelial cell derived cell line	OV7
EFO:0002394	EFO:0006459	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006459	"The OV7 cell line was established from solid ovarian tumour tissue taken from a 78-year-old female patient. The tumour was characterised as stage III, mixed tumour type and poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), no staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Detection of mRNA expression of vascular endothelial growth factor (VEGF) and its receptors flt and KDR has been reported. The patient had received treatment with chlorambucil. (Sigma-Aldrich catalog number 96020764)" []	209423	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OV7
EFO:0002888	EFO:0006459	\N	"" []	EFO:0006459	"The OV7 cell line was established from solid ovarian tumour tissue taken from a 78-year-old female patient. The tumour was characterised as stage III, mixed tumour type and poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), no staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Detection of mRNA expression of vascular endothelial growth factor (VEGF) and its receptors flt and KDR has been reported. The patient had received treatment with chlorambucil. (Sigma-Aldrich catalog number 96020764)" []	209424	\N	\N	EFO	1	EFO	Homo sapiens cell line	OV7
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006459	"The OV7 cell line was established from solid ovarian tumour tissue taken from a 78-year-old female patient. The tumour was characterised as stage III, mixed tumour type and poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), no staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Detection of mRNA expression of vascular endothelial growth factor (VEGF) and its receptors flt and KDR has been reported. The patient had received treatment with chlorambucil. (Sigma-Aldrich catalog number 96020764)" []	562597	\N	\N	EFO	2	EFO	cell line	OV7
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006459	"The OV7 cell line was established from solid ovarian tumour tissue taken from a 78-year-old female patient. The tumour was characterised as stage III, mixed tumour type and poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), no staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Detection of mRNA expression of vascular endothelial growth factor (VEGF) and its receptors flt and KDR has been reported. The patient had received treatment with chlorambucil. (Sigma-Aldrich catalog number 96020764)" []	562598	\N	\N	EFO	2	EFO	cancer cell line	OV7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006459	"The OV7 cell line was established from solid ovarian tumour tissue taken from a 78-year-old female patient. The tumour was characterised as stage III, mixed tumour type and poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), no staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Detection of mRNA expression of vascular endothelial growth factor (VEGF) and its receptors flt and KDR has been reported. The patient had received treatment with chlorambucil. (Sigma-Aldrich catalog number 96020764)" []	562599	\N	\N	EFO	2	EFO	cell line	OV7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006459	"The OV7 cell line was established from solid ovarian tumour tissue taken from a 78-year-old female patient. The tumour was characterised as stage III, mixed tumour type and poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), no staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Detection of mRNA expression of vascular endothelial growth factor (VEGF) and its receptors flt and KDR has been reported. The patient had received treatment with chlorambucil. (Sigma-Aldrich catalog number 96020764)" []	2026681	\N	\N	EFO	4	EFO	material entity	OV7
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006459	"The OV7 cell line was established from solid ovarian tumour tissue taken from a 78-year-old female patient. The tumour was characterised as stage III, mixed tumour type and poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), no staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Detection of mRNA expression of vascular endothelial growth factor (VEGF) and its receptors flt and KDR has been reported. The patient had received treatment with chlorambucil. (Sigma-Aldrich catalog number 96020764)" []	1144062	\N	\N	EFO	3	EFO	cell line	OV7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006459	"The OV7 cell line was established from solid ovarian tumour tissue taken from a 78-year-old female patient. The tumour was characterised as stage III, mixed tumour type and poorly differentiated. Immunocytochemical staining of the cells was reported to show strong staining for cytokeratin (CK), no staining for carcinoembryonic antigen (CEA) and strong staining for human milk fat globulin (HMFG-2). Detection of mRNA expression of vascular endothelial growth factor (VEGF) and its receptors flt and KDR has been reported. The patient had received treatment with chlorambucil. (Sigma-Aldrich catalog number 96020764)" []	2999689	\N	\N	EFO	5	EFO	experimental factor	OV7
EFO:0006460	\N	\N	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	67738	\N	\N	EFO	0	EFO	ovarian adenocarcinoma	ovarian adenocarcinoma
EFO:0000228	EFO:0006460	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	209425	\N	\N	EFO	1	EFO	adenocarcinoma	ovarian adenocarcinoma
EFO:0001075	EFO:0006460	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	209426	\N	\N	EFO	1	EFO	ovarian carcinoma	ovarian adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	562600	\N	\N	EFO	2	EFO	carcinoma	ovarian adenocarcinoma
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	562601	\N	\N	EFO	2	EFO	carcinoma	ovarian adenocarcinoma
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	562602	\N	\N	EFO	2	EFO	ovarian neoplasm	ovarian adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	1144063	\N	\N	EFO	3	EFO	cancer	ovarian adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	1144064	\N	\N	EFO	3	EFO	epithelial neoplasm	ovarian adenocarcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	1144065	\N	\N	EFO	3	EFO	urogenital neoplasm	ovarian adenocarcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	1144066	\N	\N	EFO	3	EFO	ovarian disease	ovarian adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	2026682	\N	\N	EFO	4	EFO	neoplasm	ovarian adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	2026683	\N	\N	EFO	4	EFO	neoplasm	ovarian adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	2026684	\N	\N	EFO	4	EFO	neoplasm	ovarian adenocarcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	2026685	\N	\N	EFO	4	EFO	reproductive system disease	ovarian adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	3178688	\N	\N	EFO	5	EFO	disease	ovarian adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	3178689	\N	\N	EFO	5	EFO	disease	ovarian adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	4388351	\N	\N	EFO	6	EFO	disposition	ovarian adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	5408859	\N	\N	EFO	7	EFO	material property	ovarian adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006460	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	6147516	\N	\N	EFO	8	EFO	experimental factor	ovarian adenocarcinoma
EFO:0006461	\N	\N	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	EFO:0006461	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	67739	\N	\N	EFO	0	EFO	ovarian granulosa tumour	ovarian granulosa tumour
EFO:0003893	EFO:0006461	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0006461	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	209427	\N	\N	EFO	1	EFO	ovarian neoplasm	ovarian granulosa tumour
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0006461	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	562603	\N	\N	EFO	2	EFO	urogenital neoplasm	ovarian granulosa tumour
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0006461	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	562604	\N	\N	EFO	2	EFO	ovarian disease	ovarian granulosa tumour
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006461	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	1144067	\N	\N	EFO	3	EFO	neoplasm	ovarian granulosa tumour
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0006461	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	1144068	\N	\N	EFO	3	EFO	reproductive system disease	ovarian granulosa tumour
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006461	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	2026686	\N	\N	EFO	4	EFO	disease	ovarian granulosa tumour
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006461	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	2026687	\N	\N	EFO	4	EFO	disease	ovarian granulosa tumour
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006461	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	3178690	\N	\N	EFO	5	EFO	disposition	ovarian granulosa tumour
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006461	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	4388352	\N	\N	EFO	6	EFO	material property	ovarian granulosa tumour
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006461	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	5408860	\N	\N	EFO	7	EFO	experimental factor	ovarian granulosa tumour
EFO:0006462	\N	\N	"An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." []	EFO:0006462	"An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." []	67740	\N	\N	EFO	0	EFO	ovarian mucinous adenocarcinoma	ovarian mucinous adenocarcinoma
EFO:0000197	EFO:0006462	\N	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	EFO:0006462	"An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." []	209428	\N	\N	EFO	1	EFO	mucinous carcinoma	ovarian mucinous adenocarcinoma
EFO:0000313	EFO:0000197	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006462	"An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." []	562605	\N	\N	EFO	2	EFO	carcinoma	ovarian mucinous adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006462	"An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." []	1144069	\N	\N	EFO	3	EFO	cancer	ovarian mucinous adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006462	"An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." []	1144070	\N	\N	EFO	3	EFO	epithelial neoplasm	ovarian mucinous adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006462	"An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." []	2026688	\N	\N	EFO	4	EFO	neoplasm	ovarian mucinous adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006462	"An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." []	2026689	\N	\N	EFO	4	EFO	neoplasm	ovarian mucinous adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006462	"An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." []	3178691	\N	\N	EFO	5	EFO	disease	ovarian mucinous adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006462	"An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." []	4388353	\N	\N	EFO	6	EFO	disposition	ovarian mucinous adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006462	"An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." []	5408861	\N	\N	EFO	7	EFO	material property	ovarian mucinous adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006462	"An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." []	6147517	\N	\N	EFO	8	EFO	experimental factor	ovarian mucinous adenocarcinoma
EFO:0006463	\N	\N	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	67741	\N	\N	EFO	0	EFO	ovarian teratoma	ovarian teratoma
EFO:0000514	EFO:0006463	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	209429	\N	\N	EFO	1	EFO	germ cell tumor	ovarian teratoma
EFO:0003893	EFO:0006463	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	209430	\N	\N	EFO	1	EFO	ovarian neoplasm	ovarian teratoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	562606	\N	\N	EFO	2	EFO	neoplasm	ovarian teratoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	562607	\N	\N	EFO	2	EFO	urogenital neoplasm	ovarian teratoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	562608	\N	\N	EFO	2	EFO	ovarian disease	ovarian teratoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	2026691	\N	\N	EFO	4	EFO	disease	ovarian teratoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	1144072	\N	\N	EFO	3	EFO	neoplasm	ovarian teratoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	1144073	\N	\N	EFO	3	EFO	reproductive system disease	ovarian teratoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	2999690	\N	\N	EFO	5	EFO	disposition	ovarian teratoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	2026692	\N	\N	EFO	4	EFO	disease	ovarian teratoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	4132691	\N	\N	EFO	6	EFO	material property	ovarian teratoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006463	"A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." []	5181014	\N	\N	EFO	7	EFO	experimental factor	ovarian teratoma
EFO:0006465	\N	\N	"Human ovarian teratocarcinoma cell line derived from metastasis in ascites (ATCC catalog number CRL-1572)" []	EFO:0006465	"Human ovarian teratocarcinoma cell line derived from metastasis in ascites (ATCC catalog number CRL-1572)" []	67742	\N	\N	EFO	0	EFO	PA-1	PA-1
EFO:0001641	EFO:0006465	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006465	"Human ovarian teratocarcinoma cell line derived from metastasis in ascites (ATCC catalog number CRL-1572)" []	209431	\N	\N	EFO	1	EFO	epithelial cell derived cell line	PA-1
EFO:0002888	EFO:0006465	\N	"" []	EFO:0006465	"Human ovarian teratocarcinoma cell line derived from metastasis in ascites (ATCC catalog number CRL-1572)" []	209432	\N	\N	EFO	1	EFO	Homo sapiens cell line	PA-1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006465	"Human ovarian teratocarcinoma cell line derived from metastasis in ascites (ATCC catalog number CRL-1572)" []	562609	\N	\N	EFO	2	EFO	cell line	PA-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006465	"Human ovarian teratocarcinoma cell line derived from metastasis in ascites (ATCC catalog number CRL-1572)" []	562610	\N	\N	EFO	2	EFO	cell line	PA-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006465	"Human ovarian teratocarcinoma cell line derived from metastasis in ascites (ATCC catalog number CRL-1572)" []	1144074	\N	\N	EFO	3	EFO	material entity	PA-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006465	"Human ovarian teratocarcinoma cell line derived from metastasis in ascites (ATCC catalog number CRL-1572)" []	2026693	\N	\N	EFO	4	EFO	experimental factor	PA-1
EFO:0006466	\N	\N	"Panc 02.03 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2553)" []	EFO:0006466	"Panc 02.03 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2553)" []	67743	\N	\N	EFO	0	EFO	Panc 02.03	Panc 02.03
EFO:0001639	EFO:0006466	\N	"" []	EFO:0006466	"Panc 02.03 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2553)" []	209433	\N	\N	EFO	1	EFO	cancer cell line	Panc 02.03
EFO:0001641	EFO:0006466	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006466	"Panc 02.03 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2553)" []	209434	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Panc 02.03
EFO:0002888	EFO:0006466	\N	"" []	EFO:0006466	"Panc 02.03 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2553)" []	209435	\N	\N	EFO	1	EFO	Homo sapiens cell line	Panc 02.03
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006466	"Panc 02.03 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2553)" []	562611	\N	\N	EFO	2	EFO	cell line	Panc 02.03
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006466	"Panc 02.03 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2553)" []	562612	\N	\N	EFO	2	EFO	cell line	Panc 02.03
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006466	"Panc 02.03 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2553)" []	562613	\N	\N	EFO	2	EFO	cell line	Panc 02.03
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006466	"Panc 02.03 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2553)" []	1144075	\N	\N	EFO	3	EFO	material entity	Panc 02.03
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006466	"Panc 02.03 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2553)" []	2026694	\N	\N	EFO	4	EFO	experimental factor	Panc 02.03
EFO:0006467	\N	\N	"Panc 03.27 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2549)" []	EFO:0006467	"Panc 03.27 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2549)" []	67744	\N	\N	EFO	0	EFO	Panc 03.27	Panc 03.27
EFO:0001639	EFO:0006467	\N	"" []	EFO:0006467	"Panc 03.27 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2549)" []	209436	\N	\N	EFO	1	EFO	cancer cell line	Panc 03.27
EFO:0001641	EFO:0006467	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006467	"Panc 03.27 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2549)" []	209437	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Panc 03.27
EFO:0002888	EFO:0006467	\N	"" []	EFO:0006467	"Panc 03.27 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2549)" []	209438	\N	\N	EFO	1	EFO	Homo sapiens cell line	Panc 03.27
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006467	"Panc 03.27 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2549)" []	562614	\N	\N	EFO	2	EFO	cell line	Panc 03.27
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006467	"Panc 03.27 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2549)" []	562615	\N	\N	EFO	2	EFO	cell line	Panc 03.27
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006467	"Panc 03.27 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2549)" []	562616	\N	\N	EFO	2	EFO	cell line	Panc 03.27
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006467	"Panc 03.27 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2549)" []	1144076	\N	\N	EFO	3	EFO	material entity	Panc 03.27
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006467	"Panc 03.27 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2549)" []	2026695	\N	\N	EFO	4	EFO	experimental factor	Panc 03.27
EFO:0006468	\N	\N	"Panc 04.03 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2555)" []	EFO:0006468	"Panc 04.03 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2555)" []	67745	\N	\N	EFO	0	EFO	Panc 04.03	Panc 04.03
EFO:0001639	EFO:0006468	\N	"" []	EFO:0006468	"Panc 04.03 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2555)" []	209439	\N	\N	EFO	1	EFO	cancer cell line	Panc 04.03
EFO:0001641	EFO:0006468	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006468	"Panc 04.03 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2555)" []	209440	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Panc 04.03
EFO:0002888	EFO:0006468	\N	"" []	EFO:0006468	"Panc 04.03 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2555)" []	209441	\N	\N	EFO	1	EFO	Homo sapiens cell line	Panc 04.03
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006468	"Panc 04.03 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2555)" []	562617	\N	\N	EFO	2	EFO	cell line	Panc 04.03
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006468	"Panc 04.03 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2555)" []	562618	\N	\N	EFO	2	EFO	cell line	Panc 04.03
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006468	"Panc 04.03 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2555)" []	562619	\N	\N	EFO	2	EFO	cell line	Panc 04.03
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006468	"Panc 04.03 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2555)" []	1144077	\N	\N	EFO	3	EFO	material entity	Panc 04.03
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006468	"Panc 04.03 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2555)" []	2026696	\N	\N	EFO	4	EFO	experimental factor	Panc 04.03
EFO:0006469	\N	\N	"Panc 05.04 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2557)" []	EFO:0006469	"Panc 05.04 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2557)" []	67746	\N	\N	EFO	0	EFO	Panc 05.04	Panc 05.04
EFO:0001639	EFO:0006469	\N	"" []	EFO:0006469	"Panc 05.04 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2557)" []	209442	\N	\N	EFO	1	EFO	cancer cell line	Panc 05.04
EFO:0001641	EFO:0006469	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006469	"Panc 05.04 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2557)" []	209443	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Panc 05.04
EFO:0002888	EFO:0006469	\N	"" []	EFO:0006469	"Panc 05.04 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2557)" []	209444	\N	\N	EFO	1	EFO	Homo sapiens cell line	Panc 05.04
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006469	"Panc 05.04 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2557)" []	562620	\N	\N	EFO	2	EFO	cell line	Panc 05.04
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006469	"Panc 05.04 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2557)" []	562621	\N	\N	EFO	2	EFO	cell line	Panc 05.04
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006469	"Panc 05.04 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2557)" []	562622	\N	\N	EFO	2	EFO	cell line	Panc 05.04
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006469	"Panc 05.04 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2557)" []	1144078	\N	\N	EFO	3	EFO	material entity	Panc 05.04
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006469	"Panc 05.04 is a pancreatic adenocarcinoma epithelial cell line derived, in 1995, from a primary tumor removed from the head-of-the-pancreas of a female with pancreatic adenocarcinoma. (ATCC catalog number CRL-2557)" []	2026697	\N	\N	EFO	4	EFO	experimental factor	Panc 05.04
EFO:0006470	\N	\N	"Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" []	EFO:0006470	"Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" []	67747	\N	\N	EFO	0	EFO	Panc 08.13	Panc 08.13
EFO:0001639	EFO:0006470	\N	"" []	EFO:0006470	"Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" []	209445	\N	\N	EFO	1	EFO	cancer cell line	Panc 08.13
EFO:0001641	EFO:0006470	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006470	"Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" []	209446	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Panc 08.13
EFO:0002888	EFO:0006470	\N	"" []	EFO:0006470	"Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" []	209447	\N	\N	EFO	1	EFO	Homo sapiens cell line	Panc 08.13
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006470	"Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" []	562623	\N	\N	EFO	2	EFO	cell line	Panc 08.13
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006470	"Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" []	562624	\N	\N	EFO	2	EFO	cell line	Panc 08.13
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006470	"Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" []	562625	\N	\N	EFO	2	EFO	cell line	Panc 08.13
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006470	"Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" []	1144079	\N	\N	EFO	3	EFO	material entity	Panc 08.13
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006470	"Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" []	2026698	\N	\N	EFO	4	EFO	experimental factor	Panc 08.13
EFO:0006471	\N	\N	"" []	EFO:0006471	"" []	67748	\N	\N	EFO	0	EFO	pancreatic tubular adenocarcinoma	pancreatic tubular adenocarcinoma
EFO:0003860	EFO:0006471	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:0006471	"" []	209448	\N	\N	EFO	1	EFO	pancreatic neoplasm	pancreatic tubular adenocarcinoma
EFO:0006500	EFO:0006471	\N	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	EFO:0006471	"" []	209449	\N	\N	EFO	1	EFO	tubular adenocarcinoma	pancreatic tubular adenocarcinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0006471	"" []	562626	\N	\N	EFO	2	EFO	endocrine neoplasm	pancreatic tubular adenocarcinoma
EFO:0000228	EFO:0006500	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0006471	"" []	562627	\N	\N	EFO	2	EFO	adenocarcinoma	pancreatic tubular adenocarcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006471	"" []	1144080	\N	\N	EFO	3	EFO	neoplasm	pancreatic tubular adenocarcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0006471	"" []	1144081	\N	\N	EFO	3	EFO	endocrine system disease	pancreatic tubular adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006471	"" []	1144082	\N	\N	EFO	3	EFO	carcinoma	pancreatic tubular adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006471	"" []	4388356	\N	\N	EFO	6	EFO	disease	pancreatic tubular adenocarcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006471	"" []	2026700	\N	\N	EFO	4	EFO	disease	pancreatic tubular adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006471	"" []	2026701	\N	\N	EFO	4	EFO	cancer	pancreatic tubular adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006471	"" []	2026702	\N	\N	EFO	4	EFO	epithelial neoplasm	pancreatic tubular adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006471	"" []	5059363	\N	\N	EFO	7	EFO	disposition	pancreatic tubular adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006471	"" []	3178694	\N	\N	EFO	5	EFO	neoplasm	pancreatic tubular adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006471	"" []	3178695	\N	\N	EFO	5	EFO	neoplasm	pancreatic tubular adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006471	"" []	5876543	\N	\N	EFO	8	EFO	material property	pancreatic tubular adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006471	"" []	6469829	\N	\N	EFO	9	EFO	experimental factor	pancreatic tubular adenocarcinoma
EFO:0006472	\N	\N	"The Pfeiffer cell line was established in 1992 from a patient in the leukemic phase of diffuse large cell lymphoma (DLCL) with cleaved and non-cleaved nuclei. (ATCC catalog number CRL-2632)" []	EFO:0006472	"The Pfeiffer cell line was established in 1992 from a patient in the leukemic phase of diffuse large cell lymphoma (DLCL) with cleaved and non-cleaved nuclei. (ATCC catalog number CRL-2632)" []	67749	\N	\N	EFO	0	EFO	Pfeiffer	Pfeiffer
EFO:0002888	EFO:0006472	\N	"" []	EFO:0006472	"The Pfeiffer cell line was established in 1992 from a patient in the leukemic phase of diffuse large cell lymphoma (DLCL) with cleaved and non-cleaved nuclei. (ATCC catalog number CRL-2632)" []	209450	\N	\N	EFO	1	EFO	Homo sapiens cell line	Pfeiffer
EFO:0002937	EFO:0006472	\N	"" []	EFO:0006472	"The Pfeiffer cell line was established in 1992 from a patient in the leukemic phase of diffuse large cell lymphoma (DLCL) with cleaved and non-cleaved nuclei. (ATCC catalog number CRL-2632)" []	209451	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	Pfeiffer
EFO:0005292	EFO:0006472	\N	"" []	EFO:0006472	"The Pfeiffer cell line was established in 1992 from a patient in the leukemic phase of diffuse large cell lymphoma (DLCL) with cleaved and non-cleaved nuclei. (ATCC catalog number CRL-2632)" []	209452	\N	\N	EFO	1	EFO	lymphoblastoid cell line	Pfeiffer
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006472	"The Pfeiffer cell line was established in 1992 from a patient in the leukemic phase of diffuse large cell lymphoma (DLCL) with cleaved and non-cleaved nuclei. (ATCC catalog number CRL-2632)" []	562628	\N	\N	EFO	2	EFO	cell line	Pfeiffer
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006472	"The Pfeiffer cell line was established in 1992 from a patient in the leukemic phase of diffuse large cell lymphoma (DLCL) with cleaved and non-cleaved nuclei. (ATCC catalog number CRL-2632)" []	562629	\N	\N	EFO	2	EFO	cancer cell line	Pfeiffer
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006472	"The Pfeiffer cell line was established in 1992 from a patient in the leukemic phase of diffuse large cell lymphoma (DLCL) with cleaved and non-cleaved nuclei. (ATCC catalog number CRL-2632)" []	562630	\N	\N	EFO	2	EFO	cell line	Pfeiffer
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006472	"The Pfeiffer cell line was established in 1992 from a patient in the leukemic phase of diffuse large cell lymphoma (DLCL) with cleaved and non-cleaved nuclei. (ATCC catalog number CRL-2632)" []	2026704	\N	\N	EFO	4	EFO	material entity	Pfeiffer
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006472	"The Pfeiffer cell line was established in 1992 from a patient in the leukemic phase of diffuse large cell lymphoma (DLCL) with cleaved and non-cleaved nuclei. (ATCC catalog number CRL-2632)" []	1144084	\N	\N	EFO	3	EFO	cell line	Pfeiffer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006472	"The Pfeiffer cell line was established in 1992 from a patient in the leukemic phase of diffuse large cell lymphoma (DLCL) with cleaved and non-cleaved nuclei. (ATCC catalog number CRL-2632)" []	2999691	\N	\N	EFO	5	EFO	experimental factor	Pfeiffer
EFO:0006473	\N	\N	"Human acute myeloid leukemia cell line established from the peripheral blood of a 24-year-old man with refractory acute promyelocytic leukemia after mediastinal granulocytic sarcoma. (DSMZ catalog number ACC 536)" []	EFO:0006473	"Human acute myeloid leukemia cell line established from the peripheral blood of a 24-year-old man with refractory acute promyelocytic leukemia after mediastinal granulocytic sarcoma. (DSMZ catalog number ACC 536)" []	67750	\N	\N	EFO	0	EFO	PL-21	PL-21
EFO:0002937	EFO:0006473	\N	"" []	EFO:0006473	"Human acute myeloid leukemia cell line established from the peripheral blood of a 24-year-old man with refractory acute promyelocytic leukemia after mediastinal granulocytic sarcoma. (DSMZ catalog number ACC 536)" []	209453	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	PL-21
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006473	"Human acute myeloid leukemia cell line established from the peripheral blood of a 24-year-old man with refractory acute promyelocytic leukemia after mediastinal granulocytic sarcoma. (DSMZ catalog number ACC 536)" []	562631	\N	\N	EFO	2	EFO	cancer cell line	PL-21
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006473	"Human acute myeloid leukemia cell line established from the peripheral blood of a 24-year-old man with refractory acute promyelocytic leukemia after mediastinal granulocytic sarcoma. (DSMZ catalog number ACC 536)" []	1144085	\N	\N	EFO	3	EFO	cell line	PL-21
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006473	"Human acute myeloid leukemia cell line established from the peripheral blood of a 24-year-old man with refractory acute promyelocytic leukemia after mediastinal granulocytic sarcoma. (DSMZ catalog number ACC 536)" []	2026705	\N	\N	EFO	4	EFO	material entity	PL-21
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006473	"Human acute myeloid leukemia cell line established from the peripheral blood of a 24-year-old man with refractory acute promyelocytic leukemia after mediastinal granulocytic sarcoma. (DSMZ catalog number ACC 536)" []	3178696	\N	\N	EFO	5	EFO	experimental factor	PL-21
EFO:0006474	\N	\N	"PL45 is a pancreatic adenocarcinoma epithelial cell line derived in 1992 from a primary tumor removed from the pancreas of a man with poorly differentiated pancreatic adenocarcinoma of ductal origin. (ATCC catalog number CRL-2558)" []	EFO:0006474	"PL45 is a pancreatic adenocarcinoma epithelial cell line derived in 1992 from a primary tumor removed from the pancreas of a man with poorly differentiated pancreatic adenocarcinoma of ductal origin. (ATCC catalog number CRL-2558)" []	67751	\N	\N	EFO	0	EFO	PL45	PL45
EFO:0001639	EFO:0006474	\N	"" []	EFO:0006474	"PL45 is a pancreatic adenocarcinoma epithelial cell line derived in 1992 from a primary tumor removed from the pancreas of a man with poorly differentiated pancreatic adenocarcinoma of ductal origin. (ATCC catalog number CRL-2558)" []	209454	\N	\N	EFO	1	EFO	cancer cell line	PL45
EFO:0001641	EFO:0006474	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006474	"PL45 is a pancreatic adenocarcinoma epithelial cell line derived in 1992 from a primary tumor removed from the pancreas of a man with poorly differentiated pancreatic adenocarcinoma of ductal origin. (ATCC catalog number CRL-2558)" []	209455	\N	\N	EFO	1	EFO	epithelial cell derived cell line	PL45
EFO:0002888	EFO:0006474	\N	"" []	EFO:0006474	"PL45 is a pancreatic adenocarcinoma epithelial cell line derived in 1992 from a primary tumor removed from the pancreas of a man with poorly differentiated pancreatic adenocarcinoma of ductal origin. (ATCC catalog number CRL-2558)" []	209456	\N	\N	EFO	1	EFO	Homo sapiens cell line	PL45
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006474	"PL45 is a pancreatic adenocarcinoma epithelial cell line derived in 1992 from a primary tumor removed from the pancreas of a man with poorly differentiated pancreatic adenocarcinoma of ductal origin. (ATCC catalog number CRL-2558)" []	562632	\N	\N	EFO	2	EFO	cell line	PL45
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006474	"PL45 is a pancreatic adenocarcinoma epithelial cell line derived in 1992 from a primary tumor removed from the pancreas of a man with poorly differentiated pancreatic adenocarcinoma of ductal origin. (ATCC catalog number CRL-2558)" []	562633	\N	\N	EFO	2	EFO	cell line	PL45
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006474	"PL45 is a pancreatic adenocarcinoma epithelial cell line derived in 1992 from a primary tumor removed from the pancreas of a man with poorly differentiated pancreatic adenocarcinoma of ductal origin. (ATCC catalog number CRL-2558)" []	562634	\N	\N	EFO	2	EFO	cell line	PL45
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006474	"PL45 is a pancreatic adenocarcinoma epithelial cell line derived in 1992 from a primary tumor removed from the pancreas of a man with poorly differentiated pancreatic adenocarcinoma of ductal origin. (ATCC catalog number CRL-2558)" []	1144086	\N	\N	EFO	3	EFO	material entity	PL45
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006474	"PL45 is a pancreatic adenocarcinoma epithelial cell line derived in 1992 from a primary tumor removed from the pancreas of a man with poorly differentiated pancreatic adenocarcinoma of ductal origin. (ATCC catalog number CRL-2558)" []	2026706	\N	\N	EFO	4	EFO	experimental factor	PL45
EFO:0006475	\N	\N	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	EFO:0006475	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	67752	\N	\N	EFO	0	EFO	plasma cell leukemia	plasma cell leukemia
EFO:0000200	EFO:0006475	\N	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	EFO:0006475	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	209457	\N	\N	EFO	1	EFO	plasma cell neoplasm	plasma cell leukemia
EFO:0000096	EFO:0000200	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:0006475	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	562635	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	plasma cell leukemia
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0006475	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	1144087	\N	\N	EFO	3	EFO	lymphoid neoplasm	plasma cell leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006475	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	2026707	\N	\N	EFO	4	EFO	cancer	plasma cell leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0006475	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	2026708	\N	\N	EFO	4	EFO	hematological system disease	plasma cell leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006475	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	3178697	\N	\N	EFO	5	EFO	neoplasm	plasma cell leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006475	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	3178698	\N	\N	EFO	5	EFO	disease	plasma cell leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006475	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	4388357	\N	\N	EFO	6	EFO	disease	plasma cell leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006475	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	5408863	\N	\N	EFO	7	EFO	disposition	plasma cell leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006475	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	5996620	\N	\N	EFO	8	EFO	material property	plasma cell leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006475	"An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more than 20% of the peripheral blood white cells." []	6550381	\N	\N	EFO	9	EFO	experimental factor	plasma cell leukemia
EFO:0006476	\N	\N	"Human colorectal adenocarcinoma cell line" []	EFO:0006476	"Human colorectal adenocarcinoma cell line" []	67753	\N	\N	EFO	0	EFO	RCM-1	RCM-1
BTO:0000797	\N	\N	"" []	EFO:0006476	"Human colorectal adenocarcinoma cell line" []	194785	\N	\N	EFO	0	EFO	colonic cancer cell line	RCM-1
EFO:0001639	EFO:0006476	\N	"" []	EFO:0006476	"Human colorectal adenocarcinoma cell line" []	209458	\N	\N	EFO	1	EFO	cancer cell line	RCM-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006476	"Human colorectal adenocarcinoma cell line" []	562636	\N	\N	EFO	2	EFO	cell line	RCM-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006476	"Human colorectal adenocarcinoma cell line" []	1144088	\N	\N	EFO	3	EFO	material entity	RCM-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006476	"Human colorectal adenocarcinoma cell line" []	2026709	\N	\N	EFO	4	EFO	experimental factor	RCM-1
EFO:0006477	\N	\N	"Human lymphoma cell line established from the peripheral blood of a 57-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL, lymphocytic, small cell type progressing to large non-convoluted cell type) in the refractory terminal stage in 1977; assigned to ABC-like lymphoma subtype (activated B-cell); cell line also known as Riva. (DSMZ catalog number ACC 585)" []	EFO:0006477	"Human lymphoma cell line established from the peripheral blood of a 57-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL, lymphocytic, small cell type progressing to large non-convoluted cell type) in the refractory terminal stage in 1977; assigned to ABC-like lymphoma subtype (activated B-cell); cell line also known as Riva. (DSMZ catalog number ACC 585)" []	67754	\N	\N	EFO	0	EFO	RI-1	RI-1
EFO:0002937	EFO:0006477	\N	"" []	EFO:0006477	"Human lymphoma cell line established from the peripheral blood of a 57-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL, lymphocytic, small cell type progressing to large non-convoluted cell type) in the refractory terminal stage in 1977; assigned to ABC-like lymphoma subtype (activated B-cell); cell line also known as Riva. (DSMZ catalog number ACC 585)" []	209459	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	RI-1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006477	"Human lymphoma cell line established from the peripheral blood of a 57-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL, lymphocytic, small cell type progressing to large non-convoluted cell type) in the refractory terminal stage in 1977; assigned to ABC-like lymphoma subtype (activated B-cell); cell line also known as Riva. (DSMZ catalog number ACC 585)" []	562637	\N	\N	EFO	2	EFO	cancer cell line	RI-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006477	"Human lymphoma cell line established from the peripheral blood of a 57-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL, lymphocytic, small cell type progressing to large non-convoluted cell type) in the refractory terminal stage in 1977; assigned to ABC-like lymphoma subtype (activated B-cell); cell line also known as Riva. (DSMZ catalog number ACC 585)" []	1144089	\N	\N	EFO	3	EFO	cell line	RI-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006477	"Human lymphoma cell line established from the peripheral blood of a 57-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL, lymphocytic, small cell type progressing to large non-convoluted cell type) in the refractory terminal stage in 1977; assigned to ABC-like lymphoma subtype (activated B-cell); cell line also known as Riva. (DSMZ catalog number ACC 585)" []	2026710	\N	\N	EFO	4	EFO	material entity	RI-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006477	"Human lymphoma cell line established from the peripheral blood of a 57-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL, lymphocytic, small cell type progressing to large non-convoluted cell type) in the refractory terminal stage in 1977; assigned to ABC-like lymphoma subtype (activated B-cell); cell line also known as Riva. (DSMZ catalog number ACC 585)" []	3178699	\N	\N	EFO	5	EFO	experimental factor	RI-1
EFO:0006478	\N	\N	"Human squamous cell carcinoma derived from metastatis in pleural effusion (ATCC catalog number CCL-30)" []	EFO:0006478	"Human squamous cell carcinoma derived from metastatis in pleural effusion (ATCC catalog number CCL-30)" []	67755	\N	\N	EFO	0	EFO	RPMI 2650	RPMI 2650
EFO:0001639	EFO:0006478	\N	"" []	EFO:0006478	"Human squamous cell carcinoma derived from metastatis in pleural effusion (ATCC catalog number CCL-30)" []	209460	\N	\N	EFO	1	EFO	cancer cell line	RPMI 2650
EFO:0001641	EFO:0006478	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006478	"Human squamous cell carcinoma derived from metastatis in pleural effusion (ATCC catalog number CCL-30)" []	209461	\N	\N	EFO	1	EFO	epithelial cell derived cell line	RPMI 2650
EFO:0002888	EFO:0006478	\N	"" []	EFO:0006478	"Human squamous cell carcinoma derived from metastatis in pleural effusion (ATCC catalog number CCL-30)" []	209462	\N	\N	EFO	1	EFO	Homo sapiens cell line	RPMI 2650
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006478	"Human squamous cell carcinoma derived from metastatis in pleural effusion (ATCC catalog number CCL-30)" []	562638	\N	\N	EFO	2	EFO	cell line	RPMI 2650
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006478	"Human squamous cell carcinoma derived from metastatis in pleural effusion (ATCC catalog number CCL-30)" []	562639	\N	\N	EFO	2	EFO	cell line	RPMI 2650
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006478	"Human squamous cell carcinoma derived from metastatis in pleural effusion (ATCC catalog number CCL-30)" []	562640	\N	\N	EFO	2	EFO	cell line	RPMI 2650
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006478	"Human squamous cell carcinoma derived from metastatis in pleural effusion (ATCC catalog number CCL-30)" []	1144090	\N	\N	EFO	3	EFO	material entity	RPMI 2650
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006478	"Human squamous cell carcinoma derived from metastatis in pleural effusion (ATCC catalog number CCL-30)" []	2026711	\N	\N	EFO	4	EFO	experimental factor	RPMI 2650
EFO:0006479	\N	\N	"Human carcinoma cell line established from the transitional cell carcinoma (histological grade G2) excised from a woman (age unknown) with untreated primary urinary bladder carcinoma in 1973; described to form tumors in nude mice (DSMZ catalog number ACC 418)" []	EFO:0006479	"Human carcinoma cell line established from the transitional cell carcinoma (histological grade G2) excised from a woman (age unknown) with untreated primary urinary bladder carcinoma in 1973; described to form tumors in nude mice (DSMZ catalog number ACC 418)" []	67756	\N	\N	EFO	0	EFO	RT-112	RT-112
EFO:0001639	EFO:0006479	\N	"" []	EFO:0006479	"Human carcinoma cell line established from the transitional cell carcinoma (histological grade G2) excised from a woman (age unknown) with untreated primary urinary bladder carcinoma in 1973; described to form tumors in nude mice (DSMZ catalog number ACC 418)" []	209463	\N	\N	EFO	1	EFO	cancer cell line	RT-112
EFO:0001641	EFO:0006479	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006479	"Human carcinoma cell line established from the transitional cell carcinoma (histological grade G2) excised from a woman (age unknown) with untreated primary urinary bladder carcinoma in 1973; described to form tumors in nude mice (DSMZ catalog number ACC 418)" []	209464	\N	\N	EFO	1	EFO	epithelial cell derived cell line	RT-112
EFO:0002888	EFO:0006479	\N	"" []	EFO:0006479	"Human carcinoma cell line established from the transitional cell carcinoma (histological grade G2) excised from a woman (age unknown) with untreated primary urinary bladder carcinoma in 1973; described to form tumors in nude mice (DSMZ catalog number ACC 418)" []	209465	\N	\N	EFO	1	EFO	Homo sapiens cell line	RT-112
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006479	"Human carcinoma cell line established from the transitional cell carcinoma (histological grade G2) excised from a woman (age unknown) with untreated primary urinary bladder carcinoma in 1973; described to form tumors in nude mice (DSMZ catalog number ACC 418)" []	562641	\N	\N	EFO	2	EFO	cell line	RT-112
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006479	"Human carcinoma cell line established from the transitional cell carcinoma (histological grade G2) excised from a woman (age unknown) with untreated primary urinary bladder carcinoma in 1973; described to form tumors in nude mice (DSMZ catalog number ACC 418)" []	562642	\N	\N	EFO	2	EFO	cell line	RT-112
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006479	"Human carcinoma cell line established from the transitional cell carcinoma (histological grade G2) excised from a woman (age unknown) with untreated primary urinary bladder carcinoma in 1973; described to form tumors in nude mice (DSMZ catalog number ACC 418)" []	562643	\N	\N	EFO	2	EFO	cell line	RT-112
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006479	"Human carcinoma cell line established from the transitional cell carcinoma (histological grade G2) excised from a woman (age unknown) with untreated primary urinary bladder carcinoma in 1973; described to form tumors in nude mice (DSMZ catalog number ACC 418)" []	1144091	\N	\N	EFO	3	EFO	material entity	RT-112
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006479	"Human carcinoma cell line established from the transitional cell carcinoma (histological grade G2) excised from a woman (age unknown) with untreated primary urinary bladder carcinoma in 1973; described to form tumors in nude mice (DSMZ catalog number ACC 418)" []	2026712	\N	\N	EFO	4	EFO	experimental factor	RT-112
EFO:0006480	\N	\N	"Human transitional cell papilloma cell line (ATCC catalog number HTB-2)" []	EFO:0006480	"Human transitional cell papilloma cell line (ATCC catalog number HTB-2)" []	67757	\N	\N	EFO	0	EFO	RT4	RT4
EFO:0001641	EFO:0006480	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006480	"Human transitional cell papilloma cell line (ATCC catalog number HTB-2)" []	209466	\N	\N	EFO	1	EFO	epithelial cell derived cell line	RT4
EFO:0002888	EFO:0006480	\N	"" []	EFO:0006480	"Human transitional cell papilloma cell line (ATCC catalog number HTB-2)" []	209467	\N	\N	EFO	1	EFO	Homo sapiens cell line	RT4
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006480	"Human transitional cell papilloma cell line (ATCC catalog number HTB-2)" []	562644	\N	\N	EFO	2	EFO	cell line	RT4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006480	"Human transitional cell papilloma cell line (ATCC catalog number HTB-2)" []	562645	\N	\N	EFO	2	EFO	cell line	RT4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006480	"Human transitional cell papilloma cell line (ATCC catalog number HTB-2)" []	1144092	\N	\N	EFO	3	EFO	material entity	RT4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006480	"Human transitional cell papilloma cell line (ATCC catalog number HTB-2)" []	2026713	\N	\N	EFO	4	EFO	experimental factor	RT4
EFO:0006481	\N	\N	"Human B-cell lymphoma cell line from a 67-year-old male patient" []	EFO:0006481	"Human B-cell lymphoma cell line from a 67-year-old male patient" []	67758	\N	\N	EFO	0	EFO	SC-1	SC-1
EFO:0001640	EFO:0006481	\N	"" []	EFO:0006481	"Human B-cell lymphoma cell line from a 67-year-old male patient" []	209468	\N	\N	EFO	1	EFO	B cell derived cell line	SC-1
EFO:0002888	EFO:0006481	\N	"" []	EFO:0006481	"Human B-cell lymphoma cell line from a 67-year-old male patient" []	209469	\N	\N	EFO	1	EFO	Homo sapiens cell line	SC-1
EFO:0002937	EFO:0006481	\N	"" []	EFO:0006481	"Human B-cell lymphoma cell line from a 67-year-old male patient" []	209470	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	SC-1
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006481	"Human B-cell lymphoma cell line from a 67-year-old male patient" []	562646	\N	\N	EFO	2	EFO	cell line	SC-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006481	"Human B-cell lymphoma cell line from a 67-year-old male patient" []	562647	\N	\N	EFO	2	EFO	cell line	SC-1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006481	"Human B-cell lymphoma cell line from a 67-year-old male patient" []	562648	\N	\N	EFO	2	EFO	cancer cell line	SC-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006481	"Human B-cell lymphoma cell line from a 67-year-old male patient" []	2026715	\N	\N	EFO	4	EFO	material entity	SC-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006481	"Human B-cell lymphoma cell line from a 67-year-old male patient" []	1144094	\N	\N	EFO	3	EFO	cell line	SC-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006481	"Human B-cell lymphoma cell line from a 67-year-old male patient" []	2999692	\N	\N	EFO	5	EFO	experimental factor	SC-1
EFO:0006482	\N	\N	"Human squamous cell carcinoma cell line from the tongue of a 55-year-old male patient. (ATCC catalog number CRL-1623)" []	EFO:0006482	"Human squamous cell carcinoma cell line from the tongue of a 55-year-old male patient. (ATCC catalog number CRL-1623)" []	67759	\N	\N	EFO	0	EFO	SCC-15	SCC-15
EFO:0001639	EFO:0006482	\N	"" []	EFO:0006482	"Human squamous cell carcinoma cell line from the tongue of a 55-year-old male patient. (ATCC catalog number CRL-1623)" []	209471	\N	\N	EFO	1	EFO	cancer cell line	SCC-15
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006482	"Human squamous cell carcinoma cell line from the tongue of a 55-year-old male patient. (ATCC catalog number CRL-1623)" []	562649	\N	\N	EFO	2	EFO	cell line	SCC-15
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006482	"Human squamous cell carcinoma cell line from the tongue of a 55-year-old male patient. (ATCC catalog number CRL-1623)" []	1144095	\N	\N	EFO	3	EFO	material entity	SCC-15
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006482	"Human squamous cell carcinoma cell line from the tongue of a 55-year-old male patient. (ATCC catalog number CRL-1623)" []	2026716	\N	\N	EFO	4	EFO	experimental factor	SCC-15
EFO:0006483	\N	\N	"Human squamous cell carcinoma cell line from the tongue of a 70-year-old male patient. (ATCC catalog number CRL-1628)" []	EFO:0006483	"Human squamous cell carcinoma cell line from the tongue of a 70-year-old male patient. (ATCC catalog number CRL-1628)" []	67760	\N	\N	EFO	0	EFO	SCC-25	SCC-25
EFO:0001639	EFO:0006483	\N	"" []	EFO:0006483	"Human squamous cell carcinoma cell line from the tongue of a 70-year-old male patient. (ATCC catalog number CRL-1628)" []	209472	\N	\N	EFO	1	EFO	cancer cell line	SCC-25
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006483	"Human squamous cell carcinoma cell line from the tongue of a 70-year-old male patient. (ATCC catalog number CRL-1628)" []	562650	\N	\N	EFO	2	EFO	cell line	SCC-25
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006483	"Human squamous cell carcinoma cell line from the tongue of a 70-year-old male patient. (ATCC catalog number CRL-1628)" []	1144096	\N	\N	EFO	3	EFO	material entity	SCC-25
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006483	"Human squamous cell carcinoma cell line from the tongue of a 70-year-old male patient. (ATCC catalog number CRL-1628)" []	2026717	\N	\N	EFO	4	EFO	experimental factor	SCC-25
EFO:0006484	\N	\N	"Human non-Hodgkin's lymphoma cell line." []	EFO:0006484	"Human non-Hodgkin's lymphoma cell line." []	67761	\N	\N	EFO	0	EFO	SCC-3	SCC-3
EFO:0002937	EFO:0006484	\N	"" []	EFO:0006484	"Human non-Hodgkin's lymphoma cell line." []	209473	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	SCC-3
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006484	"Human non-Hodgkin's lymphoma cell line." []	562651	\N	\N	EFO	2	EFO	cancer cell line	SCC-3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006484	"Human non-Hodgkin's lymphoma cell line." []	1144097	\N	\N	EFO	3	EFO	cell line	SCC-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006484	"Human non-Hodgkin's lymphoma cell line." []	2026718	\N	\N	EFO	4	EFO	material entity	SCC-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006484	"Human non-Hodgkin's lymphoma cell line." []	3178700	\N	\N	EFO	5	EFO	experimental factor	SCC-3
EFO:0006485	\N	\N	"Human squamous cell carcinoma cell line from the tongue of a 25-year-old male patient. (ATCC catalog number CRL-1629)" []	EFO:0006485	"Human squamous cell carcinoma cell line from the tongue of a 25-year-old male patient. (ATCC catalog number CRL-1629)" []	67762	\N	\N	EFO	0	EFO	SCC-9	SCC-9
EFO:0001639	EFO:0006485	\N	"" []	EFO:0006485	"Human squamous cell carcinoma cell line from the tongue of a 25-year-old male patient. (ATCC catalog number CRL-1629)" []	209474	\N	\N	EFO	1	EFO	cancer cell line	SCC-9
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006485	"Human squamous cell carcinoma cell line from the tongue of a 25-year-old male patient. (ATCC catalog number CRL-1629)" []	562652	\N	\N	EFO	2	EFO	cell line	SCC-9
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006485	"Human squamous cell carcinoma cell line from the tongue of a 25-year-old male patient. (ATCC catalog number CRL-1629)" []	1144098	\N	\N	EFO	3	EFO	material entity	SCC-9
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006485	"Human squamous cell carcinoma cell line from the tongue of a 25-year-old male patient. (ATCC catalog number CRL-1629)" []	2026719	\N	\N	EFO	4	EFO	experimental factor	SCC-9
EFO:0006486	\N	\N	"Human essential thrombocythemia cell line established from the peripheral blood of a 71-year-old woman with essential thrombocythemia at megakaryoblastic leukemic transformation in 1995. (DSMZ catalog number ACC 608)" []	EFO:0006486	"Human essential thrombocythemia cell line established from the peripheral blood of a 71-year-old woman with essential thrombocythemia at megakaryoblastic leukemic transformation in 1995. (DSMZ catalog number ACC 608)" []	67763	\N	\N	EFO	0	EFO	SET-2	SET-2
EFO:0001639	EFO:0006486	\N	"" []	EFO:0006486	"Human essential thrombocythemia cell line established from the peripheral blood of a 71-year-old woman with essential thrombocythemia at megakaryoblastic leukemic transformation in 1995. (DSMZ catalog number ACC 608)" []	209475	\N	\N	EFO	1	EFO	cancer cell line	SET-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006486	"Human essential thrombocythemia cell line established from the peripheral blood of a 71-year-old woman with essential thrombocythemia at megakaryoblastic leukemic transformation in 1995. (DSMZ catalog number ACC 608)" []	562653	\N	\N	EFO	2	EFO	cell line	SET-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006486	"Human essential thrombocythemia cell line established from the peripheral blood of a 71-year-old woman with essential thrombocythemia at megakaryoblastic leukemic transformation in 1995. (DSMZ catalog number ACC 608)" []	1144099	\N	\N	EFO	3	EFO	material entity	SET-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006486	"Human essential thrombocythemia cell line established from the peripheral blood of a 71-year-old woman with essential thrombocythemia at megakaryoblastic leukemic transformation in 1995. (DSMZ catalog number ACC 608)" []	2026720	\N	\N	EFO	4	EFO	experimental factor	SET-2
EFO:0006487	\N	\N	"Human melanoma cell line derived from metastasis in lymph node (ATCC catalog number HTB-71)" []	EFO:0006487	"Human melanoma cell line derived from metastasis in lymph node (ATCC catalog number HTB-71)" []	67764	\N	\N	EFO	0	EFO	SK-MEL-24	SK-MEL-24
BTO:0000849	EFO:0006487	\N	"" []	EFO:0006487	"Human melanoma cell line derived from metastasis in lymph node (ATCC catalog number HTB-71)" []	209476	\N	\N	EFO	1	EFO	melanoma cell line	SK-MEL-24
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006487	"Human melanoma cell line derived from metastasis in lymph node (ATCC catalog number HTB-71)" []	562654	\N	\N	EFO	2	EFO	cancer cell line	SK-MEL-24
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006487	"Human melanoma cell line derived from metastasis in lymph node (ATCC catalog number HTB-71)" []	1144100	\N	\N	EFO	3	EFO	cell line	SK-MEL-24
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006487	"Human melanoma cell line derived from metastasis in lymph node (ATCC catalog number HTB-71)" []	2026721	\N	\N	EFO	4	EFO	material entity	SK-MEL-24
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006487	"Human melanoma cell line derived from metastasis in lymph node (ATCC catalog number HTB-71)" []	3178701	\N	\N	EFO	5	EFO	experimental factor	SK-MEL-24
EFO:0006488	\N	\N	"Human melanoma cell line derived from tumor tissue (subcutis metastasis) of a 67-year-old Caucasian man with malignant melanoma in 1975 (DSMZ catalog number ACC 151)" []	EFO:0006488	"Human melanoma cell line derived from tumor tissue (subcutis metastasis) of a 67-year-old Caucasian man with malignant melanoma in 1975 (DSMZ catalog number ACC 151)" []	67765	\N	\N	EFO	0	EFO	SK-MEL-30	SK-MEL-30
BTO:0000849	EFO:0006488	\N	"" []	EFO:0006488	"Human melanoma cell line derived from tumor tissue (subcutis metastasis) of a 67-year-old Caucasian man with malignant melanoma in 1975 (DSMZ catalog number ACC 151)" []	209477	\N	\N	EFO	1	EFO	melanoma cell line	SK-MEL-30
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006488	"Human melanoma cell line derived from tumor tissue (subcutis metastasis) of a 67-year-old Caucasian man with malignant melanoma in 1975 (DSMZ catalog number ACC 151)" []	562655	\N	\N	EFO	2	EFO	cancer cell line	SK-MEL-30
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006488	"Human melanoma cell line derived from tumor tissue (subcutis metastasis) of a 67-year-old Caucasian man with malignant melanoma in 1975 (DSMZ catalog number ACC 151)" []	1144101	\N	\N	EFO	3	EFO	cell line	SK-MEL-30
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006488	"Human melanoma cell line derived from tumor tissue (subcutis metastasis) of a 67-year-old Caucasian man with malignant melanoma in 1975 (DSMZ catalog number ACC 151)" []	2026722	\N	\N	EFO	4	EFO	material entity	SK-MEL-30
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006488	"Human melanoma cell line derived from tumor tissue (subcutis metastasis) of a 67-year-old Caucasian man with malignant melanoma in 1975 (DSMZ catalog number ACC 151)" []	3178702	\N	\N	EFO	5	EFO	experimental factor	SK-MEL-30
EFO:0006489	\N	\N	"Human melanoma cell line derived from a female patient with malignant melanoma (ATCC catalog number HTB-73)" []	EFO:0006489	"Human melanoma cell line derived from a female patient with malignant melanoma (ATCC catalog number HTB-73)" []	67766	\N	\N	EFO	0	EFO	SK-MEL-31	SK-MEL-31
BTO:0000849	EFO:0006489	\N	"" []	EFO:0006489	"Human melanoma cell line derived from a female patient with malignant melanoma (ATCC catalog number HTB-73)" []	209478	\N	\N	EFO	1	EFO	melanoma cell line	SK-MEL-31
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006489	"Human melanoma cell line derived from a female patient with malignant melanoma (ATCC catalog number HTB-73)" []	562656	\N	\N	EFO	2	EFO	cancer cell line	SK-MEL-31
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006489	"Human melanoma cell line derived from a female patient with malignant melanoma (ATCC catalog number HTB-73)" []	1144102	\N	\N	EFO	3	EFO	cell line	SK-MEL-31
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006489	"Human melanoma cell line derived from a female patient with malignant melanoma (ATCC catalog number HTB-73)" []	2026723	\N	\N	EFO	4	EFO	material entity	SK-MEL-31
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006489	"Human melanoma cell line derived from a female patient with malignant melanoma (ATCC catalog number HTB-73)" []	3178703	\N	\N	EFO	5	EFO	experimental factor	SK-MEL-31
EFO:0006490	\N	\N	"Human melanoma cell line" []	EFO:0006490	"Human melanoma cell line" []	67767	\N	\N	EFO	0	EFO	SK23	SK23
BTO:0000849	EFO:0006490	\N	"" []	EFO:0006490	"Human melanoma cell line" []	209479	\N	\N	EFO	1	EFO	melanoma cell line	SK23
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006490	"Human melanoma cell line" []	562657	\N	\N	EFO	2	EFO	cancer cell line	SK23
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006490	"Human melanoma cell line" []	1144103	\N	\N	EFO	3	EFO	cell line	SK23
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006490	"Human melanoma cell line" []	2026724	\N	\N	EFO	4	EFO	material entity	SK23
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006490	"Human melanoma cell line" []	3178704	\N	\N	EFO	5	EFO	experimental factor	SK23
EFO:0006491	\N	\N	"Human anaplastic large T cell lymphoma cell line established from the pleural effusion an 11-year-old boy with CD30+ (Ki-1) large T cell lymphoma in 1983 (also described as \\"SR\\"); described to express the NPM1-ALK (NPM-ALK) fusion gene (DSMZ catalog number ACC 369)" []	EFO:0006491	"Human anaplastic large T cell lymphoma cell line established from the pleural effusion an 11-year-old boy with CD30+ (Ki-1) large T cell lymphoma in 1983 (also described as \\"SR\\"); described to express the NPM1-ALK (NPM-ALK) fusion gene (DSMZ catalog number ACC 369)" []	67768	\N	\N	EFO	0	EFO	SR-786	SR-786
EFO:0002888	EFO:0006491	\N	"" []	EFO:0006491	"Human anaplastic large T cell lymphoma cell line established from the pleural effusion an 11-year-old boy with CD30+ (Ki-1) large T cell lymphoma in 1983 (also described as \\"SR\\"); described to express the NPM1-ALK (NPM-ALK) fusion gene (DSMZ catalog number ACC 369)" []	209480	\N	\N	EFO	1	EFO	Homo sapiens cell line	SR-786
EFO:0002937	EFO:0006491	\N	"" []	EFO:0006491	"Human anaplastic large T cell lymphoma cell line established from the pleural effusion an 11-year-old boy with CD30+ (Ki-1) large T cell lymphoma in 1983 (also described as \\"SR\\"); described to express the NPM1-ALK (NPM-ALK) fusion gene (DSMZ catalog number ACC 369)" []	209481	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	SR-786
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006491	"Human anaplastic large T cell lymphoma cell line established from the pleural effusion an 11-year-old boy with CD30+ (Ki-1) large T cell lymphoma in 1983 (also described as \\"SR\\"); described to express the NPM1-ALK (NPM-ALK) fusion gene (DSMZ catalog number ACC 369)" []	562658	\N	\N	EFO	2	EFO	cell line	SR-786
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006491	"Human anaplastic large T cell lymphoma cell line established from the pleural effusion an 11-year-old boy with CD30+ (Ki-1) large T cell lymphoma in 1983 (also described as \\"SR\\"); described to express the NPM1-ALK (NPM-ALK) fusion gene (DSMZ catalog number ACC 369)" []	562659	\N	\N	EFO	2	EFO	cancer cell line	SR-786
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006491	"Human anaplastic large T cell lymphoma cell line established from the pleural effusion an 11-year-old boy with CD30+ (Ki-1) large T cell lymphoma in 1983 (also described as \\"SR\\"); described to express the NPM1-ALK (NPM-ALK) fusion gene (DSMZ catalog number ACC 369)" []	2026726	\N	\N	EFO	4	EFO	material entity	SR-786
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006491	"Human anaplastic large T cell lymphoma cell line established from the pleural effusion an 11-year-old boy with CD30+ (Ki-1) large T cell lymphoma in 1983 (also described as \\"SR\\"); described to express the NPM1-ALK (NPM-ALK) fusion gene (DSMZ catalog number ACC 369)" []	1144105	\N	\N	EFO	3	EFO	cell line	SR-786
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006491	"Human anaplastic large T cell lymphoma cell line established from the pleural effusion an 11-year-old boy with CD30+ (Ki-1) large T cell lymphoma in 1983 (also described as \\"SR\\"); described to express the NPM1-ALK (NPM-ALK) fusion gene (DSMZ catalog number ACC 369)" []	2999693	\N	\N	EFO	5	EFO	experimental factor	SR-786
EFO:0006492	\N	\N	"Human lymphoma cell line isolated from peritoneal effusion in a 38-year-old male Caucasian patient. (ATCC catalog number CRL-2957)" []	EFO:0006492	"Human lymphoma cell line isolated from peritoneal effusion in a 38-year-old male Caucasian patient. (ATCC catalog number CRL-2957)" []	67769	\N	\N	EFO	0	EFO	SU-DHL-4	SU-DHL-4
EFO:0001640	EFO:0006492	\N	"" []	EFO:0006492	"Human lymphoma cell line isolated from peritoneal effusion in a 38-year-old male Caucasian patient. (ATCC catalog number CRL-2957)" []	209482	\N	\N	EFO	1	EFO	B cell derived cell line	SU-DHL-4
EFO:0002888	EFO:0006492	\N	"" []	EFO:0006492	"Human lymphoma cell line isolated from peritoneal effusion in a 38-year-old male Caucasian patient. (ATCC catalog number CRL-2957)" []	209483	\N	\N	EFO	1	EFO	Homo sapiens cell line	SU-DHL-4
EFO:0002937	EFO:0006492	\N	"" []	EFO:0006492	"Human lymphoma cell line isolated from peritoneal effusion in a 38-year-old male Caucasian patient. (ATCC catalog number CRL-2957)" []	209484	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	SU-DHL-4
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006492	"Human lymphoma cell line isolated from peritoneal effusion in a 38-year-old male Caucasian patient. (ATCC catalog number CRL-2957)" []	562660	\N	\N	EFO	2	EFO	cell line	SU-DHL-4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006492	"Human lymphoma cell line isolated from peritoneal effusion in a 38-year-old male Caucasian patient. (ATCC catalog number CRL-2957)" []	562661	\N	\N	EFO	2	EFO	cell line	SU-DHL-4
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006492	"Human lymphoma cell line isolated from peritoneal effusion in a 38-year-old male Caucasian patient. (ATCC catalog number CRL-2957)" []	562662	\N	\N	EFO	2	EFO	cancer cell line	SU-DHL-4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006492	"Human lymphoma cell line isolated from peritoneal effusion in a 38-year-old male Caucasian patient. (ATCC catalog number CRL-2957)" []	2026728	\N	\N	EFO	4	EFO	material entity	SU-DHL-4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006492	"Human lymphoma cell line isolated from peritoneal effusion in a 38-year-old male Caucasian patient. (ATCC catalog number CRL-2957)" []	1144107	\N	\N	EFO	3	EFO	cell line	SU-DHL-4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006492	"Human lymphoma cell line isolated from peritoneal effusion in a 38-year-old male Caucasian patient. (ATCC catalog number CRL-2957)" []	2999694	\N	\N	EFO	5	EFO	experimental factor	SU-DHL-4
EFO:0006493	\N	\N	"Human large cell lymphoma cel line derived from peritoneal effusion in a 59-year-old male Caucasian patient (ATCC catalog number CRL-2961)." []	EFO:0006493	"Human large cell lymphoma cel line derived from peritoneal effusion in a 59-year-old male Caucasian patient (ATCC catalog number CRL-2961)." []	67770	\N	\N	EFO	0	EFO	SU-DHL-8	SU-DHL-8
EFO:0001640	EFO:0006493	\N	"" []	EFO:0006493	"Human large cell lymphoma cel line derived from peritoneal effusion in a 59-year-old male Caucasian patient (ATCC catalog number CRL-2961)." []	209485	\N	\N	EFO	1	EFO	B cell derived cell line	SU-DHL-8
EFO:0002888	EFO:0006493	\N	"" []	EFO:0006493	"Human large cell lymphoma cel line derived from peritoneal effusion in a 59-year-old male Caucasian patient (ATCC catalog number CRL-2961)." []	209486	\N	\N	EFO	1	EFO	Homo sapiens cell line	SU-DHL-8
EFO:0002937	EFO:0006493	\N	"" []	EFO:0006493	"Human large cell lymphoma cel line derived from peritoneal effusion in a 59-year-old male Caucasian patient (ATCC catalog number CRL-2961)." []	209487	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	SU-DHL-8
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006493	"Human large cell lymphoma cel line derived from peritoneal effusion in a 59-year-old male Caucasian patient (ATCC catalog number CRL-2961)." []	562663	\N	\N	EFO	2	EFO	cell line	SU-DHL-8
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006493	"Human large cell lymphoma cel line derived from peritoneal effusion in a 59-year-old male Caucasian patient (ATCC catalog number CRL-2961)." []	562664	\N	\N	EFO	2	EFO	cell line	SU-DHL-8
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006493	"Human large cell lymphoma cel line derived from peritoneal effusion in a 59-year-old male Caucasian patient (ATCC catalog number CRL-2961)." []	562665	\N	\N	EFO	2	EFO	cancer cell line	SU-DHL-8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006493	"Human large cell lymphoma cel line derived from peritoneal effusion in a 59-year-old male Caucasian patient (ATCC catalog number CRL-2961)." []	2026730	\N	\N	EFO	4	EFO	material entity	SU-DHL-8
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006493	"Human large cell lymphoma cel line derived from peritoneal effusion in a 59-year-old male Caucasian patient (ATCC catalog number CRL-2961)." []	1144109	\N	\N	EFO	3	EFO	cell line	SU-DHL-8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006493	"Human large cell lymphoma cel line derived from peritoneal effusion in a 59-year-old male Caucasian patient (ATCC catalog number CRL-2961)." []	2999695	\N	\N	EFO	5	EFO	experimental factor	SU-DHL-8
EFO:0006494	\N	\N	"Human pancreatic ductal carcinoma derived from metastasis in liver. (ATCC catalog number CRL-1837)" []	EFO:0006494	"Human pancreatic ductal carcinoma derived from metastasis in liver. (ATCC catalog number CRL-1837)" []	67771	\N	\N	EFO	0	EFO	SU.86.86	SU.86.86
EFO:0001639	EFO:0006494	\N	"" []	EFO:0006494	"Human pancreatic ductal carcinoma derived from metastasis in liver. (ATCC catalog number CRL-1837)" []	209488	\N	\N	EFO	1	EFO	cancer cell line	SU.86.86
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006494	"Human pancreatic ductal carcinoma derived from metastasis in liver. (ATCC catalog number CRL-1837)" []	562666	\N	\N	EFO	2	EFO	cell line	SU.86.86
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006494	"Human pancreatic ductal carcinoma derived from metastasis in liver. (ATCC catalog number CRL-1837)" []	1144110	\N	\N	EFO	3	EFO	material entity	SU.86.86
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006494	"Human pancreatic ductal carcinoma derived from metastasis in liver. (ATCC catalog number CRL-1837)" []	2026731	\N	\N	EFO	4	EFO	experimental factor	SU.86.86
EFO:0006495	\N	\N	"Human pancreatic tubular adenocarcinoma derived from metastasis in the liver of a 73-year-old male Japanese patient." []	EFO:0006495	"Human pancreatic tubular adenocarcinoma derived from metastasis in the liver of a 73-year-old male Japanese patient." []	67772	\N	\N	EFO	0	EFO	SUIT-2	SUIT-2
EFO:0001639	EFO:0006495	\N	"" []	EFO:0006495	"Human pancreatic tubular adenocarcinoma derived from metastasis in the liver of a 73-year-old male Japanese patient." []	209489	\N	\N	EFO	1	EFO	cancer cell line	SUIT-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006495	"Human pancreatic tubular adenocarcinoma derived from metastasis in the liver of a 73-year-old male Japanese patient." []	562667	\N	\N	EFO	2	EFO	cell line	SUIT-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006495	"Human pancreatic tubular adenocarcinoma derived from metastasis in the liver of a 73-year-old male Japanese patient." []	1144111	\N	\N	EFO	3	EFO	material entity	SUIT-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006495	"Human pancreatic tubular adenocarcinoma derived from metastasis in the liver of a 73-year-old male Japanese patient." []	2026732	\N	\N	EFO	4	EFO	experimental factor	SUIT-2
EFO:0006496	\N	\N	"Human diffuse large B cell lymphoma cell line derived from a 62-year-old male patient." []	EFO:0006496	"Human diffuse large B cell lymphoma cell line derived from a 62-year-old male patient." []	67773	\N	\N	EFO	0	EFO	TMD8	TMD8
EFO:0001640	EFO:0006496	\N	"" []	EFO:0006496	"Human diffuse large B cell lymphoma cell line derived from a 62-year-old male patient." []	209490	\N	\N	EFO	1	EFO	B cell derived cell line	TMD8
EFO:0002888	EFO:0006496	\N	"" []	EFO:0006496	"Human diffuse large B cell lymphoma cell line derived from a 62-year-old male patient." []	209491	\N	\N	EFO	1	EFO	Homo sapiens cell line	TMD8
EFO:0002937	EFO:0006496	\N	"" []	EFO:0006496	"Human diffuse large B cell lymphoma cell line derived from a 62-year-old male patient." []	209492	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	TMD8
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006496	"Human diffuse large B cell lymphoma cell line derived from a 62-year-old male patient." []	562668	\N	\N	EFO	2	EFO	cell line	TMD8
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006496	"Human diffuse large B cell lymphoma cell line derived from a 62-year-old male patient." []	562669	\N	\N	EFO	2	EFO	cell line	TMD8
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006496	"Human diffuse large B cell lymphoma cell line derived from a 62-year-old male patient." []	562670	\N	\N	EFO	2	EFO	cancer cell line	TMD8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006496	"Human diffuse large B cell lymphoma cell line derived from a 62-year-old male patient." []	2026734	\N	\N	EFO	4	EFO	material entity	TMD8
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006496	"Human diffuse large B cell lymphoma cell line derived from a 62-year-old male patient." []	1144113	\N	\N	EFO	3	EFO	cell line	TMD8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006496	"Human diffuse large B cell lymphoma cell line derived from a 62-year-old male patient." []	2999696	\N	\N	EFO	5	EFO	experimental factor	TMD8
EFO:0006497	\N	\N	"A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." []	EFO:0006497	"A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." []	67774	\N	\N	EFO	0	EFO	transitional cell papilloma	transitional cell papilloma
EFO:0000616	EFO:0006497	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006497	"A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." []	209493	\N	\N	EFO	1	EFO	neoplasm	transitional cell papilloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006497	"A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." []	562671	\N	\N	EFO	2	EFO	disease	transitional cell papilloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006497	"A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." []	1144114	\N	\N	EFO	3	EFO	disposition	transitional cell papilloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006497	"A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." []	2026735	\N	\N	EFO	4	EFO	material property	transitional cell papilloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006497	"A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." []	3178705	\N	\N	EFO	5	EFO	experimental factor	transitional cell papilloma
EFO:0006498	\N	\N	"Human glioblastoma cell line (Sigma-Aldrich catalog number 09063001)" []	EFO:0006498	"Human glioblastoma cell line (Sigma-Aldrich catalog number 09063001)" []	67775	\N	\N	EFO	0	EFO	U-251 MG	U-251 MG
EFO:0001639	EFO:0006498	\N	"" []	EFO:0006498	"Human glioblastoma cell line (Sigma-Aldrich catalog number 09063001)" []	209494	\N	\N	EFO	1	EFO	cancer cell line	U-251 MG
EFO:0002888	EFO:0006498	\N	"" []	EFO:0006498	"Human glioblastoma cell line (Sigma-Aldrich catalog number 09063001)" []	209495	\N	\N	EFO	1	EFO	Homo sapiens cell line	U-251 MG
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006498	"Human glioblastoma cell line (Sigma-Aldrich catalog number 09063001)" []	562672	\N	\N	EFO	2	EFO	cell line	U-251 MG
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006498	"Human glioblastoma cell line (Sigma-Aldrich catalog number 09063001)" []	562673	\N	\N	EFO	2	EFO	cell line	U-251 MG
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006498	"Human glioblastoma cell line (Sigma-Aldrich catalog number 09063001)" []	1144115	\N	\N	EFO	3	EFO	material entity	U-251 MG
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006498	"Human glioblastoma cell line (Sigma-Aldrich catalog number 09063001)" []	2026736	\N	\N	EFO	4	EFO	experimental factor	U-251 MG
EFO:0006499	\N	\N	"Human diffuse large B cell lymphoma cell line established in 1996 from the ascites of a 29-year-old woman with diffuse large B cell lymphoma, who 16 years earlier was diagnosed with advanced stage Hodgkin lymphoma, and relapsed several times after multiple chemo- and radiotharapy regimens to complete remissions; cells were described to overexpress BCL2, BCL6 and p53; assigned to ABC-like lymphoma subtype (activated B-cell) (DSMZ catalog number ACC 633)" []	EFO:0006499	"Human diffuse large B cell lymphoma cell line established in 1996 from the ascites of a 29-year-old woman with diffuse large B cell lymphoma, who 16 years earlier was diagnosed with advanced stage Hodgkin lymphoma, and relapsed several times after multiple chemo- and radiotharapy regimens to complete remissions; cells were described to overexpress BCL2, BCL6 and p53; assigned to ABC-like lymphoma subtype (activated B-cell) (DSMZ catalog number ACC 633)" []	67776	\N	\N	EFO	0	EFO	U-2932	U-2932
EFO:0001640	EFO:0006499	\N	"" []	EFO:0006499	"Human diffuse large B cell lymphoma cell line established in 1996 from the ascites of a 29-year-old woman with diffuse large B cell lymphoma, who 16 years earlier was diagnosed with advanced stage Hodgkin lymphoma, and relapsed several times after multiple chemo- and radiotharapy regimens to complete remissions; cells were described to overexpress BCL2, BCL6 and p53; assigned to ABC-like lymphoma subtype (activated B-cell) (DSMZ catalog number ACC 633)" []	209496	\N	\N	EFO	1	EFO	B cell derived cell line	U-2932
EFO:0002888	EFO:0006499	\N	"" []	EFO:0006499	"Human diffuse large B cell lymphoma cell line established in 1996 from the ascites of a 29-year-old woman with diffuse large B cell lymphoma, who 16 years earlier was diagnosed with advanced stage Hodgkin lymphoma, and relapsed several times after multiple chemo- and radiotharapy regimens to complete remissions; cells were described to overexpress BCL2, BCL6 and p53; assigned to ABC-like lymphoma subtype (activated B-cell) (DSMZ catalog number ACC 633)" []	209497	\N	\N	EFO	1	EFO	Homo sapiens cell line	U-2932
EFO:0002937	EFO:0006499	\N	"" []	EFO:0006499	"Human diffuse large B cell lymphoma cell line established in 1996 from the ascites of a 29-year-old woman with diffuse large B cell lymphoma, who 16 years earlier was diagnosed with advanced stage Hodgkin lymphoma, and relapsed several times after multiple chemo- and radiotharapy regimens to complete remissions; cells were described to overexpress BCL2, BCL6 and p53; assigned to ABC-like lymphoma subtype (activated B-cell) (DSMZ catalog number ACC 633)" []	209498	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	U-2932
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006499	"Human diffuse large B cell lymphoma cell line established in 1996 from the ascites of a 29-year-old woman with diffuse large B cell lymphoma, who 16 years earlier was diagnosed with advanced stage Hodgkin lymphoma, and relapsed several times after multiple chemo- and radiotharapy regimens to complete remissions; cells were described to overexpress BCL2, BCL6 and p53; assigned to ABC-like lymphoma subtype (activated B-cell) (DSMZ catalog number ACC 633)" []	562674	\N	\N	EFO	2	EFO	cell line	U-2932
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006499	"Human diffuse large B cell lymphoma cell line established in 1996 from the ascites of a 29-year-old woman with diffuse large B cell lymphoma, who 16 years earlier was diagnosed with advanced stage Hodgkin lymphoma, and relapsed several times after multiple chemo- and radiotharapy regimens to complete remissions; cells were described to overexpress BCL2, BCL6 and p53; assigned to ABC-like lymphoma subtype (activated B-cell) (DSMZ catalog number ACC 633)" []	562675	\N	\N	EFO	2	EFO	cell line	U-2932
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006499	"Human diffuse large B cell lymphoma cell line established in 1996 from the ascites of a 29-year-old woman with diffuse large B cell lymphoma, who 16 years earlier was diagnosed with advanced stage Hodgkin lymphoma, and relapsed several times after multiple chemo- and radiotharapy regimens to complete remissions; cells were described to overexpress BCL2, BCL6 and p53; assigned to ABC-like lymphoma subtype (activated B-cell) (DSMZ catalog number ACC 633)" []	562676	\N	\N	EFO	2	EFO	cancer cell line	U-2932
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006499	"Human diffuse large B cell lymphoma cell line established in 1996 from the ascites of a 29-year-old woman with diffuse large B cell lymphoma, who 16 years earlier was diagnosed with advanced stage Hodgkin lymphoma, and relapsed several times after multiple chemo- and radiotharapy regimens to complete remissions; cells were described to overexpress BCL2, BCL6 and p53; assigned to ABC-like lymphoma subtype (activated B-cell) (DSMZ catalog number ACC 633)" []	2026738	\N	\N	EFO	4	EFO	material entity	U-2932
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006499	"Human diffuse large B cell lymphoma cell line established in 1996 from the ascites of a 29-year-old woman with diffuse large B cell lymphoma, who 16 years earlier was diagnosed with advanced stage Hodgkin lymphoma, and relapsed several times after multiple chemo- and radiotharapy regimens to complete remissions; cells were described to overexpress BCL2, BCL6 and p53; assigned to ABC-like lymphoma subtype (activated B-cell) (DSMZ catalog number ACC 633)" []	1144117	\N	\N	EFO	3	EFO	cell line	U-2932
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006499	"Human diffuse large B cell lymphoma cell line established in 1996 from the ascites of a 29-year-old woman with diffuse large B cell lymphoma, who 16 years earlier was diagnosed with advanced stage Hodgkin lymphoma, and relapsed several times after multiple chemo- and radiotharapy regimens to complete remissions; cells were described to overexpress BCL2, BCL6 and p53; assigned to ABC-like lymphoma subtype (activated B-cell) (DSMZ catalog number ACC 633)" []	2999697	\N	\N	EFO	5	EFO	experimental factor	U-2932
EFO:0006500	\N	\N	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	EFO:0006500	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	67777	\N	\N	EFO	0	EFO	tubular adenocarcinoma	tubular adenocarcinoma
EFO:0000228	EFO:0006500	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0006500	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	209499	\N	\N	EFO	1	EFO	adenocarcinoma	tubular adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006500	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	562677	\N	\N	EFO	2	EFO	carcinoma	tubular adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006500	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	1144118	\N	\N	EFO	3	EFO	cancer	tubular adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006500	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	1144119	\N	\N	EFO	3	EFO	epithelial neoplasm	tubular adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006500	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	2026739	\N	\N	EFO	4	EFO	neoplasm	tubular adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006500	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	2026740	\N	\N	EFO	4	EFO	neoplasm	tubular adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006500	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	3178706	\N	\N	EFO	5	EFO	disease	tubular adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006500	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	4388359	\N	\N	EFO	6	EFO	disposition	tubular adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006500	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	5408865	\N	\N	EFO	7	EFO	material property	tubular adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006500	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	6147519	\N	\N	EFO	8	EFO	experimental factor	tubular adenocarcinoma
EFO:0006501	\N	\N	"quantification of the build-up of atheroscleortic plaque, expressed as the sum of plaque areas over the segments in common and internal carotid arteries and bifurcation" []	EFO:0006501	"quantification of the build-up of atheroscleortic plaque, expressed as the sum of plaque areas over the segments in common and internal carotid arteries and bifurcation" []	67778	\N	\N	EFO	0	EFO	carotid plaque build	carotid plaque build
EFO:0005278	EFO:0006501	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006501	"quantification of the build-up of atheroscleortic plaque, expressed as the sum of plaque areas over the segments in common and internal carotid arteries and bifurcation" []	209500	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	carotid plaque build
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006501	"quantification of the build-up of atheroscleortic plaque, expressed as the sum of plaque areas over the segments in common and internal carotid arteries and bifurcation" []	562678	\N	\N	EFO	2	EFO	cardiovascular measurement	carotid plaque build
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006501	"quantification of the build-up of atheroscleortic plaque, expressed as the sum of plaque areas over the segments in common and internal carotid arteries and bifurcation" []	1144120	\N	\N	EFO	3	EFO	measurement	carotid plaque build
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006501	"quantification of the build-up of atheroscleortic plaque, expressed as the sum of plaque areas over the segments in common and internal carotid arteries and bifurcation" []	2026741	\N	\N	EFO	4	EFO	information entity	carotid plaque build
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006501	"quantification of the build-up of atheroscleortic plaque, expressed as the sum of plaque areas over the segments in common and internal carotid arteries and bifurcation" []	3178707	\N	\N	EFO	5	EFO	experimental factor	carotid plaque build
EFO:0006502	\N	\N	"proportion of the total breast area that is dense" []	EFO:0006502	"proportion of the total breast area that is dense" []	67779	\N	\N	EFO	0	EFO	mammographic density percentage	mammographic density percentage
EFO:0005941	EFO:0006502	\N	"quantification of the density of breast tissue from a mammogram, used as an indicator of breast cancer risk" []	EFO:0006502	"proportion of the total breast area that is dense" []	209501	\N	\N	EFO	1	EFO	mammographic density measurement	mammographic density percentage
EFO:0001444	EFO:0005941	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006502	"proportion of the total breast area that is dense" []	562679	\N	\N	EFO	2	EFO	measurement	mammographic density percentage
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006502	"proportion of the total breast area that is dense" []	1144121	\N	\N	EFO	3	EFO	information entity	mammographic density percentage
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006502	"proportion of the total breast area that is dense" []	2026742	\N	\N	EFO	4	EFO	experimental factor	mammographic density percentage
EFO:0006503	\N	\N	"quantification of the area of the breast tissue that is dense, expressed in cm2" []	EFO:0006503	"quantification of the area of the breast tissue that is dense, expressed in cm2" []	67780	\N	\N	EFO	0	EFO	dense area measurement	dense area measurement
EFO:0005941	EFO:0006503	\N	"quantification of the density of breast tissue from a mammogram, used as an indicator of breast cancer risk" []	EFO:0006503	"quantification of the area of the breast tissue that is dense, expressed in cm2" []	209502	\N	\N	EFO	1	EFO	mammographic density measurement	dense area measurement
EFO:0001444	EFO:0005941	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006503	"quantification of the area of the breast tissue that is dense, expressed in cm2" []	562680	\N	\N	EFO	2	EFO	measurement	dense area measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006503	"quantification of the area of the breast tissue that is dense, expressed in cm2" []	1144122	\N	\N	EFO	3	EFO	information entity	dense area measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006503	"quantification of the area of the breast tissue that is dense, expressed in cm2" []	2026743	\N	\N	EFO	4	EFO	experimental factor	dense area measurement
EFO:0006504	\N	\N	"quantification of the area of the breast tissue that is non-dense, expressed in cm2" []	EFO:0006504	"quantification of the area of the breast tissue that is non-dense, expressed in cm2" []	67781	\N	\N	EFO	0	EFO	non-dense area measurement	non-dense area measurement
EFO:0005941	EFO:0006504	\N	"quantification of the density of breast tissue from a mammogram, used as an indicator of breast cancer risk" []	EFO:0006504	"quantification of the area of the breast tissue that is non-dense, expressed in cm2" []	209503	\N	\N	EFO	1	EFO	mammographic density measurement	non-dense area measurement
EFO:0001444	EFO:0005941	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006504	"quantification of the area of the breast tissue that is non-dense, expressed in cm2" []	562681	\N	\N	EFO	2	EFO	measurement	non-dense area measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006504	"quantification of the area of the breast tissue that is non-dense, expressed in cm2" []	1144123	\N	\N	EFO	3	EFO	information entity	non-dense area measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006504	"quantification of the area of the breast tissue that is non-dense, expressed in cm2" []	2026744	\N	\N	EFO	4	EFO	experimental factor	non-dense area measurement
EFO:0006505	\N	\N	"A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." []	EFO:0006505	"A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." []	67782	\N	\N	EFO	0	EFO	chronic bronchitis	chronic bronchitis
EFO:0000341	EFO:0006505	\N	"A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema." []	EFO:0006505	"A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." []	209504	\N	\N	EFO	1	EFO	chronic obstructive pulmonary disease	chronic bronchitis
EFO:1002018	EFO:0006505	\N	"a respiratory system disease that has its manifestation in the bronchus" []	EFO:0006505	"A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." []	209505	\N	\N	EFO	1	EFO	bronchial disease	chronic bronchitis
EFO:0003818	EFO:0000341	\N	"Pathological processes involving any part of the LUNG." []	EFO:0006505	"A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." []	562682	\N	\N	EFO	2	EFO	lung disease	chronic bronchitis
EFO:0000684	EFO:1002018	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0006505	"A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." []	562683	\N	\N	EFO	2	EFO	respiratory system disease	chronic bronchitis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0006505	"A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." []	1144124	\N	\N	EFO	3	EFO	respiratory system disease	chronic bronchitis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006505	"A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." []	2026745	\N	\N	EFO	4	EFO	disease	chronic bronchitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006505	"A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." []	2999698	\N	\N	EFO	5	EFO	disposition	chronic bronchitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006505	"A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." []	4132692	\N	\N	EFO	6	EFO	material property	chronic bronchitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006505	"A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." []	5181015	\N	\N	EFO	7	EFO	experimental factor	chronic bronchitis
EFO:0006506	\N	\N	"quantification of the lipid content of the liver, through medical imaging or from histological samples" []	EFO:0006506	"quantification of the lipid content of the liver, through medical imaging or from histological samples" []	67783	\N	\N	EFO	0	EFO	hepatic lipid content measurement	hepatic lipid content measurement
EFO:0004529	EFO:0006506	\N	"A measure of circulating lipid" []	EFO:0006506	"quantification of the lipid content of the liver, through medical imaging or from histological samples" []	209506	\N	\N	EFO	1	EFO	lipid measurement	hepatic lipid content measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006506	"quantification of the lipid content of the liver, through medical imaging or from histological samples" []	562684	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	hepatic lipid content measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006506	"quantification of the lipid content of the liver, through medical imaging or from histological samples" []	1144126	\N	\N	EFO	3	EFO	measurement	hepatic lipid content measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006506	"quantification of the lipid content of the liver, through medical imaging or from histological samples" []	2026747	\N	\N	EFO	4	EFO	information entity	hepatic lipid content measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006506	"quantification of the lipid content of the liver, through medical imaging or from histological samples" []	3178709	\N	\N	EFO	5	EFO	experimental factor	hepatic lipid content measurement
EFO:0006507	\N	\N	"quantification of nicotine metabolisation via the glucuronidation pathway, usually via analysis of a urine sample" []	EFO:0006507	"quantification of nicotine metabolisation via the glucuronidation pathway, usually via analysis of a urine sample" []	67784	\N	\N	EFO	0	EFO	nicotine glucuronidation measurement	nicotine glucuronidation measurement
EFO:0001444	EFO:0006507	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006507	"quantification of nicotine metabolisation via the glucuronidation pathway, usually via analysis of a urine sample" []	209507	\N	\N	EFO	1	EFO	measurement	nicotine glucuronidation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006507	"quantification of nicotine metabolisation via the glucuronidation pathway, usually via analysis of a urine sample" []	562685	\N	\N	EFO	2	EFO	information entity	nicotine glucuronidation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006507	"quantification of nicotine metabolisation via the glucuronidation pathway, usually via analysis of a urine sample" []	1144127	\N	\N	EFO	3	EFO	experimental factor	nicotine glucuronidation measurement
EFO:0006508	\N	\N	"quantification of cotinine metabolisation via the glucuronidation pathway, usually via analysis of a urine sample" []	EFO:0006508	"quantification of cotinine metabolisation via the glucuronidation pathway, usually via analysis of a urine sample" []	67785	\N	\N	EFO	0	EFO	cotinine glucuronidation measurement	cotinine glucuronidation measurement
EFO:0001444	EFO:0006508	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006508	"quantification of cotinine metabolisation via the glucuronidation pathway, usually via analysis of a urine sample" []	209508	\N	\N	EFO	1	EFO	measurement	cotinine glucuronidation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006508	"quantification of cotinine metabolisation via the glucuronidation pathway, usually via analysis of a urine sample" []	562686	\N	\N	EFO	2	EFO	information entity	cotinine glucuronidation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006508	"quantification of cotinine metabolisation via the glucuronidation pathway, usually via analysis of a urine sample" []	1144128	\N	\N	EFO	3	EFO	experimental factor	cotinine glucuronidation measurement
EFO:0006509	\N	\N	"A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." []	EFO:0006509	"A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." []	67786	\N	\N	EFO	0	EFO	Varicella Zoster infection	Varicella Zoster infection
EFO:0000763	EFO:0006509	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0006509	"A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." []	209509	\N	\N	EFO	1	EFO	viral disease	Varicella Zoster infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0006509	"A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." []	562687	\N	\N	EFO	2	EFO	infectious disease	Varicella Zoster infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006509	"A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." []	1144129	\N	\N	EFO	3	EFO	disease	Varicella Zoster infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006509	"A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." []	2026748	\N	\N	EFO	4	EFO	disposition	Varicella Zoster infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006509	"A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." []	3178710	\N	\N	EFO	5	EFO	material property	Varicella Zoster infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006509	"A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." []	4388361	\N	\N	EFO	6	EFO	experimental factor	Varicella Zoster infection
EFO:0006510	\N	\N	"A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." []	EFO:0006510	"A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." []	67787	\N	\N	EFO	0	EFO	Herpes Zoster	Herpes Zoster
EFO:0006509	EFO:0006510	\N	"A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." []	EFO:0006510	"A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." []	209510	\N	\N	EFO	1	EFO	Varicella Zoster infection	Herpes Zoster
EFO:0000763	EFO:0006509	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0006510	"A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." []	562688	\N	\N	EFO	2	EFO	viral disease	Herpes Zoster
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0006510	"A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." []	1144130	\N	\N	EFO	3	EFO	infectious disease	Herpes Zoster
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006510	"A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." []	2026749	\N	\N	EFO	4	EFO	disease	Herpes Zoster
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006510	"A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." []	3178711	\N	\N	EFO	5	EFO	disposition	Herpes Zoster
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006510	"A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." []	4388362	\N	\N	EFO	6	EFO	material property	Herpes Zoster
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006510	"A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." []	5408866	\N	\N	EFO	7	EFO	experimental factor	Herpes Zoster
EFO:0006511	\N	\N	"Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." []	EFO:0006511	"Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." []	67788	\N	\N	EFO	0	EFO	Kashin-Beck disease	Kashin-Beck disease
EFO:0005571	EFO:0006511	\N	"A bone development disease that results_in defective development of cartilage or bone." []	EFO:0006511	"Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." []	209511	\N	\N	EFO	1	EFO	osteochondrodysplasia	Kashin-Beck disease
EFO:0005541	EFO:0005571	\N	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	EFO:0006511	"Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." []	562689	\N	\N	EFO	2	EFO	bone development disease	Kashin-Beck disease
EFO:0004260	EFO:0005541	\N	"Diseases of BONES." []	EFO:0006511	"Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." []	1144131	\N	\N	EFO	3	EFO	bone disease	Kashin-Beck disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0006511	"Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." []	2026750	\N	\N	EFO	4	EFO	skeletal system disease	Kashin-Beck disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006511	"Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." []	3178712	\N	\N	EFO	5	EFO	disease	Kashin-Beck disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006511	"Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." []	4388363	\N	\N	EFO	6	EFO	disposition	Kashin-Beck disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006511	"Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." []	5408867	\N	\N	EFO	7	EFO	material property	Kashin-Beck disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006511	"Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." []	6147520	\N	\N	EFO	8	EFO	experimental factor	Kashin-Beck disease
EFO:0006512	\N	\N	"quantification of some heart-related structural phenotype via the medical imaging technique of angiography, for example to determine the number or type of coronary artery lesions in coronary artery disease" []	EFO:0006512	"quantification of some heart-related structural phenotype via the medical imaging technique of angiography, for example to determine the number or type of coronary artery lesions in coronary artery disease" []	67789	\N	\N	EFO	0	EFO	angiographic measurement	angiographic measurement
EFO:0004298	EFO:0006512	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006512	"quantification of some heart-related structural phenotype via the medical imaging technique of angiography, for example to determine the number or type of coronary artery lesions in coronary artery disease" []	209512	\N	\N	EFO	1	EFO	cardiovascular measurement	angiographic measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006512	"quantification of some heart-related structural phenotype via the medical imaging technique of angiography, for example to determine the number or type of coronary artery lesions in coronary artery disease" []	562690	\N	\N	EFO	2	EFO	measurement	angiographic measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006512	"quantification of some heart-related structural phenotype via the medical imaging technique of angiography, for example to determine the number or type of coronary artery lesions in coronary artery disease" []	1144132	\N	\N	EFO	3	EFO	information entity	angiographic measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006512	"quantification of some heart-related structural phenotype via the medical imaging technique of angiography, for example to determine the number or type of coronary artery lesions in coronary artery disease" []	2026751	\N	\N	EFO	4	EFO	experimental factor	angiographic measurement
EFO:0006513	\N	\N	"Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" []	EFO:0006513	"Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" []	67790	\N	\N	EFO	0	EFO	hereditary hemochromatosis	hereditary hemochromatosis
EFO:0000405	EFO:0006513	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0006513	"Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" []	209513	\N	\N	EFO	1	EFO	digestive system disease	hereditary hemochromatosis
EFO:0000589	EFO:0006513	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0006513	"Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" []	209514	\N	\N	EFO	1	EFO	metabolic disease	hereditary hemochromatosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006513	"Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" []	562691	\N	\N	EFO	2	EFO	disease	hereditary hemochromatosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006513	"Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" []	562692	\N	\N	EFO	2	EFO	disease	hereditary hemochromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006513	"Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" []	1144133	\N	\N	EFO	3	EFO	disposition	hereditary hemochromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006513	"Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" []	2026752	\N	\N	EFO	4	EFO	material property	hereditary hemochromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006513	"Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" []	3178713	\N	\N	EFO	5	EFO	experimental factor	hereditary hemochromatosis
EFO:0006514	\N	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0006514	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	67791	\N	\N	EFO	0	EFO	Alzheimer's disease biomarker measurement	Alzheimer's disease biomarker measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006514	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	209515	\N	\N	EFO	1	EFO	measurement	Alzheimer's disease biomarker measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006514	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	562693	\N	\N	EFO	2	EFO	information entity	Alzheimer's disease biomarker measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006514	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	1144134	\N	\N	EFO	3	EFO	experimental factor	Alzheimer's disease biomarker measurement
EFO:0006515	\N	\N	"quantification of the amount of angiotension-converting enzyme in a sample, eg in cerebro-spinal fluid or blood" []	EFO:0006515	"quantification of the amount of angiotension-converting enzyme in a sample, eg in cerebro-spinal fluid or blood" []	67792	\N	\N	EFO	0	EFO	angiotensin-converting enzyme measurement	angiotensin-converting enzyme measurement
EFO:0004747	EFO:0006515	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006515	"quantification of the amount of angiotension-converting enzyme in a sample, eg in cerebro-spinal fluid or blood" []	209516	\N	\N	EFO	1	EFO	protein measurement	angiotensin-converting enzyme measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006515	"quantification of the amount of angiotension-converting enzyme in a sample, eg in cerebro-spinal fluid or blood" []	562694	\N	\N	EFO	2	EFO	measurement	angiotensin-converting enzyme measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006515	"quantification of the amount of angiotension-converting enzyme in a sample, eg in cerebro-spinal fluid or blood" []	1144135	\N	\N	EFO	3	EFO	information entity	angiotensin-converting enzyme measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006515	"quantification of the amount of angiotension-converting enzyme in a sample, eg in cerebro-spinal fluid or blood" []	2026753	\N	\N	EFO	4	EFO	experimental factor	angiotensin-converting enzyme measurement
EFO:0006516	\N	\N	"quantification of the volume of grey matter in the superior frontal gyrus, usuallly through an MRI scan" []	EFO:0006516	"quantification of the volume of grey matter in the superior frontal gyrus, usuallly through an MRI scan" []	67793	\N	\N	EFO	0	EFO	superior frontal gyrus grey matter volume measurement	superior frontal gyrus grey matter volume measurement
EFO:0005420	EFO:0006516	\N	"quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." []	EFO:0006516	"quantification of the volume of grey matter in the superior frontal gyrus, usuallly through an MRI scan" []	209517	\N	\N	EFO	1	EFO	grey matter volume measurement	superior frontal gyrus grey matter volume measurement
EFO:0006848	EFO:0005420	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0006516	"quantification of the volume of grey matter in the superior frontal gyrus, usuallly through an MRI scan" []	562695	\N	\N	EFO	2	EFO	mental or behavioural disorder biomarker	superior frontal gyrus grey matter volume measurement
EFO:0006930	EFO:0005420	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0006516	"quantification of the volume of grey matter in the superior frontal gyrus, usuallly through an MRI scan" []	562696	\N	\N	EFO	2	EFO	brain volume measurement	superior frontal gyrus grey matter volume measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006516	"quantification of the volume of grey matter in the superior frontal gyrus, usuallly through an MRI scan" []	1144136	\N	\N	EFO	3	EFO	measurement	superior frontal gyrus grey matter volume measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0006516	"quantification of the volume of grey matter in the superior frontal gyrus, usuallly through an MRI scan" []	1144137	\N	\N	EFO	3	EFO	brain measurement	superior frontal gyrus grey matter volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006516	"quantification of the volume of grey matter in the superior frontal gyrus, usuallly through an MRI scan" []	3178715	\N	\N	EFO	5	EFO	information entity	superior frontal gyrus grey matter volume measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006516	"quantification of the volume of grey matter in the superior frontal gyrus, usuallly through an MRI scan" []	2026755	\N	\N	EFO	4	EFO	measurement	superior frontal gyrus grey matter volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006516	"quantification of the volume of grey matter in the superior frontal gyrus, usuallly through an MRI scan" []	4132693	\N	\N	EFO	6	EFO	experimental factor	superior frontal gyrus grey matter volume measurement
EFO:0006517	\N	\N	"quantification of interferon alpha in a sample" []	EFO:0006517	"quantification of interferon alpha in a sample" []	67794	\N	\N	EFO	0	EFO	interferon alpha measurement	interferon alpha measurement
EFO:0004873	EFO:0006517	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0006517	"quantification of interferon alpha in a sample" []	209518	\N	\N	EFO	1	EFO	cytokine measurement	interferon alpha measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006517	"quantification of interferon alpha in a sample" []	562697	\N	\N	EFO	2	EFO	protein measurement	interferon alpha measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006517	"quantification of interferon alpha in a sample" []	1144138	\N	\N	EFO	3	EFO	measurement	interferon alpha measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006517	"quantification of interferon alpha in a sample" []	2026756	\N	\N	EFO	4	EFO	information entity	interferon alpha measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006517	"quantification of interferon alpha in a sample" []	3178716	\N	\N	EFO	5	EFO	experimental factor	interferon alpha measurement
EFO:0006518	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with losartan, an angiotensin II receptor antagonist drug used mainly to treat hypertension" []	EFO:0006518	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with losartan, an angiotensin II receptor antagonist drug used mainly to treat hypertension" []	67795	\N	\N	EFO	0	EFO	response to losartan	response to losartan
EFO:0005405	EFO:0006518	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antihypertensive drug." []	EFO:0006518	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with losartan, an angiotensin II receptor antagonist drug used mainly to treat hypertension" []	209519	\N	\N	EFO	1	EFO	response to antihypertensive drug	response to losartan
EFO:0006519	\N	\N	"febrile seizures that occur in a risk window of 9 to 14 days following the date of MMR vaccination" []	EFO:0006519	"febrile seizures that occur in a risk window of 9 to 14 days following the date of MMR vaccination" []	67796	\N	\N	EFO	0	EFO	MMR-related febrile seizures	MMR-related febrile seizures
HP:0002373	\N	\N	"Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two." [HPO:curators]	EFO:0006519	"febrile seizures that occur in a risk window of 9 to 14 days following the date of MMR vaccination" []	194786	\N	\N	EFO	0	EFO	Febrile seizures	MMR-related febrile seizures
EFO:0006520	\N	\N	"Quantification of the amount of carbon monoxide in a person's exhalation, usually measured using a breath CO monitor. Breath CO can be used for evaluation of smoking status or assessment of carbon monoxide poisoning" []	EFO:0006520	"Quantification of the amount of carbon monoxide in a person's exhalation, usually measured using a breath CO monitor. Breath CO can be used for evaluation of smoking status or assessment of carbon monoxide poisoning" []	67797	\N	\N	EFO	0	EFO	carbon monoxide exhalation measurement	carbon monoxide exhalation measurement
EFO:0005671	EFO:0006520	\N	"the quantification of some smoking or smoking-related behaviour, usually self-reported via a questionnaire" []	EFO:0006520	"Quantification of the amount of carbon monoxide in a person's exhalation, usually measured using a breath CO monitor. Breath CO can be used for evaluation of smoking status or assessment of carbon monoxide poisoning" []	209520	\N	\N	EFO	1	EFO	smoking behaviour measurement	carbon monoxide exhalation measurement
EFO:0001444	EFO:0005671	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006520	"Quantification of the amount of carbon monoxide in a person's exhalation, usually measured using a breath CO monitor. Breath CO can be used for evaluation of smoking status or assessment of carbon monoxide poisoning" []	562698	\N	\N	EFO	2	EFO	measurement	carbon monoxide exhalation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006520	"Quantification of the amount of carbon monoxide in a person's exhalation, usually measured using a breath CO monitor. Breath CO can be used for evaluation of smoking status or assessment of carbon monoxide poisoning" []	1144139	\N	\N	EFO	3	EFO	information entity	carbon monoxide exhalation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006520	"Quantification of the amount of carbon monoxide in a person's exhalation, usually measured using a breath CO monitor. Breath CO can be used for evaluation of smoking status or assessment of carbon monoxide poisoning" []	2026757	\N	\N	EFO	4	EFO	experimental factor	carbon monoxide exhalation measurement
EFO:0006521	\N	\N	"Quantification of the amount of calcium consumed from dietary and supplemental sources" []	EFO:0006521	"Quantification of the amount of calcium consumed from dietary and supplemental sources" []	67798	\N	\N	EFO	0	EFO	calcium intake measurement	calcium intake measurement
EFO:0004838	EFO:0006521	\N	"Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation." []	EFO:0006521	"Quantification of the amount of calcium consumed from dietary and supplemental sources" []	209521	\N	\N	EFO	1	EFO	calcium measurement	calcium intake measurement
EFO:0008111	EFO:0006521	\N	"quantification of some aspect of diet, including diet patterns, balance of nutrient consumption and glycemic load" []	EFO:0006521	"Quantification of the amount of calcium consumed from dietary and supplemental sources" []	209522	\N	\N	EFO	1	EFO	diet measurement	calcium intake measurement
EFO:0001444	EFO:0004838	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006521	"Quantification of the amount of calcium consumed from dietary and supplemental sources" []	562699	\N	\N	EFO	2	EFO	measurement	calcium intake measurement
EFO:0001444	EFO:0008111	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006521	"Quantification of the amount of calcium consumed from dietary and supplemental sources" []	562700	\N	\N	EFO	2	EFO	measurement	calcium intake measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006521	"Quantification of the amount of calcium consumed from dietary and supplemental sources" []	1144140	\N	\N	EFO	3	EFO	information entity	calcium intake measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006521	"Quantification of the amount of calcium consumed from dietary and supplemental sources" []	2026758	\N	\N	EFO	4	EFO	experimental factor	calcium intake measurement
EFO:0006522	\N	\N	"quantification of the amount of asymmetrical dimethylarginine in blood. Asymmetric dimethylarginine (ADMA) is an independent risk factor for coronary heart disease in patients with heart disease, type II diabetes or kidney disease. ADMA inhibits nitric oxide (NO) synthesis and is elevated in diseases related to endothelial dysfunction including hypertension, hyperlipidemia, and type-II diabetes mellitus. Elevation in ADMA and subsequent NO synthesis inhibition leads to vasoconstriction, reduced peripheral blood flow, and reduced cardiac output." []	EFO:0006522	"quantification of the amount of asymmetrical dimethylarginine in blood. Asymmetric dimethylarginine (ADMA) is an independent risk factor for coronary heart disease in patients with heart disease, type II diabetes or kidney disease. ADMA inhibits nitric oxide (NO) synthesis and is elevated in diseases related to endothelial dysfunction including hypertension, hyperlipidemia, and type-II diabetes mellitus. Elevation in ADMA and subsequent NO synthesis inhibition leads to vasoconstriction, reduced peripheral blood flow, and reduced cardiac output." []	67799	\N	\N	EFO	0	EFO	asymmetrical dimethylarginine measurement	asymmetrical dimethylarginine measurement
EFO:0005278	EFO:0006522	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006522	"quantification of the amount of asymmetrical dimethylarginine in blood. Asymmetric dimethylarginine (ADMA) is an independent risk factor for coronary heart disease in patients with heart disease, type II diabetes or kidney disease. ADMA inhibits nitric oxide (NO) synthesis and is elevated in diseases related to endothelial dysfunction including hypertension, hyperlipidemia, and type-II diabetes mellitus. Elevation in ADMA and subsequent NO synthesis inhibition leads to vasoconstriction, reduced peripheral blood flow, and reduced cardiac output." []	209523	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	asymmetrical dimethylarginine measurement
EFO:0005418	EFO:0006522	\N	"quantification of symmetric or asymmetric dimethylarginine in the blood" []	EFO:0006522	"quantification of the amount of asymmetrical dimethylarginine in blood. Asymmetric dimethylarginine (ADMA) is an independent risk factor for coronary heart disease in patients with heart disease, type II diabetes or kidney disease. ADMA inhibits nitric oxide (NO) synthesis and is elevated in diseases related to endothelial dysfunction including hypertension, hyperlipidemia, and type-II diabetes mellitus. Elevation in ADMA and subsequent NO synthesis inhibition leads to vasoconstriction, reduced peripheral blood flow, and reduced cardiac output." []	209524	\N	\N	EFO	1	EFO	serum dimethylarginine measurement	asymmetrical dimethylarginine measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006522	"quantification of the amount of asymmetrical dimethylarginine in blood. Asymmetric dimethylarginine (ADMA) is an independent risk factor for coronary heart disease in patients with heart disease, type II diabetes or kidney disease. ADMA inhibits nitric oxide (NO) synthesis and is elevated in diseases related to endothelial dysfunction including hypertension, hyperlipidemia, and type-II diabetes mellitus. Elevation in ADMA and subsequent NO synthesis inhibition leads to vasoconstriction, reduced peripheral blood flow, and reduced cardiac output." []	562701	\N	\N	EFO	2	EFO	cardiovascular measurement	asymmetrical dimethylarginine measurement
EFO:0001444	EFO:0005418	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006522	"quantification of the amount of asymmetrical dimethylarginine in blood. Asymmetric dimethylarginine (ADMA) is an independent risk factor for coronary heart disease in patients with heart disease, type II diabetes or kidney disease. ADMA inhibits nitric oxide (NO) synthesis and is elevated in diseases related to endothelial dysfunction including hypertension, hyperlipidemia, and type-II diabetes mellitus. Elevation in ADMA and subsequent NO synthesis inhibition leads to vasoconstriction, reduced peripheral blood flow, and reduced cardiac output." []	562702	\N	\N	EFO	2	EFO	measurement	asymmetrical dimethylarginine measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006522	"quantification of the amount of asymmetrical dimethylarginine in blood. Asymmetric dimethylarginine (ADMA) is an independent risk factor for coronary heart disease in patients with heart disease, type II diabetes or kidney disease. ADMA inhibits nitric oxide (NO) synthesis and is elevated in diseases related to endothelial dysfunction including hypertension, hyperlipidemia, and type-II diabetes mellitus. Elevation in ADMA and subsequent NO synthesis inhibition leads to vasoconstriction, reduced peripheral blood flow, and reduced cardiac output." []	1144141	\N	\N	EFO	3	EFO	measurement	asymmetrical dimethylarginine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006522	"quantification of the amount of asymmetrical dimethylarginine in blood. Asymmetric dimethylarginine (ADMA) is an independent risk factor for coronary heart disease in patients with heart disease, type II diabetes or kidney disease. ADMA inhibits nitric oxide (NO) synthesis and is elevated in diseases related to endothelial dysfunction including hypertension, hyperlipidemia, and type-II diabetes mellitus. Elevation in ADMA and subsequent NO synthesis inhibition leads to vasoconstriction, reduced peripheral blood flow, and reduced cardiac output." []	2026759	\N	\N	EFO	4	EFO	information entity	asymmetrical dimethylarginine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006522	"quantification of the amount of asymmetrical dimethylarginine in blood. Asymmetric dimethylarginine (ADMA) is an independent risk factor for coronary heart disease in patients with heart disease, type II diabetes or kidney disease. ADMA inhibits nitric oxide (NO) synthesis and is elevated in diseases related to endothelial dysfunction including hypertension, hyperlipidemia, and type-II diabetes mellitus. Elevation in ADMA and subsequent NO synthesis inhibition leads to vasoconstriction, reduced peripheral blood flow, and reduced cardiac output." []	2999699	\N	\N	EFO	5	EFO	experimental factor	asymmetrical dimethylarginine measurement
EFO:0006523	\N	\N	"quantification of the amount of asymmetrical dimethylarginine in blood. It is a structural isomer of asymmetric dimethyl argigine. It has been reported to be a marker for kidney disease,  often used a predictor of all-cause mortality after ischemic stroke" []	EFO:0006523	"quantification of the amount of asymmetrical dimethylarginine in blood. It is a structural isomer of asymmetric dimethyl argigine. It has been reported to be a marker for kidney disease,  often used a predictor of all-cause mortality after ischemic stroke" []	67800	\N	\N	EFO	0	EFO	symmetrical dimethylarginine measurement	symmetrical dimethylarginine measurement
EFO:0005278	EFO:0006523	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006523	"quantification of the amount of asymmetrical dimethylarginine in blood. It is a structural isomer of asymmetric dimethyl argigine. It has been reported to be a marker for kidney disease,  often used a predictor of all-cause mortality after ischemic stroke" []	209525	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	symmetrical dimethylarginine measurement
EFO:0005418	EFO:0006523	\N	"quantification of symmetric or asymmetric dimethylarginine in the blood" []	EFO:0006523	"quantification of the amount of asymmetrical dimethylarginine in blood. It is a structural isomer of asymmetric dimethyl argigine. It has been reported to be a marker for kidney disease,  often used a predictor of all-cause mortality after ischemic stroke" []	209526	\N	\N	EFO	1	EFO	serum dimethylarginine measurement	symmetrical dimethylarginine measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006523	"quantification of the amount of asymmetrical dimethylarginine in blood. It is a structural isomer of asymmetric dimethyl argigine. It has been reported to be a marker for kidney disease,  often used a predictor of all-cause mortality after ischemic stroke" []	562703	\N	\N	EFO	2	EFO	cardiovascular measurement	symmetrical dimethylarginine measurement
EFO:0001444	EFO:0005418	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006523	"quantification of the amount of asymmetrical dimethylarginine in blood. It is a structural isomer of asymmetric dimethyl argigine. It has been reported to be a marker for kidney disease,  often used a predictor of all-cause mortality after ischemic stroke" []	562704	\N	\N	EFO	2	EFO	measurement	symmetrical dimethylarginine measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006523	"quantification of the amount of asymmetrical dimethylarginine in blood. It is a structural isomer of asymmetric dimethyl argigine. It has been reported to be a marker for kidney disease,  often used a predictor of all-cause mortality after ischemic stroke" []	1144143	\N	\N	EFO	3	EFO	measurement	symmetrical dimethylarginine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006523	"quantification of the amount of asymmetrical dimethylarginine in blood. It is a structural isomer of asymmetric dimethyl argigine. It has been reported to be a marker for kidney disease,  often used a predictor of all-cause mortality after ischemic stroke" []	2026761	\N	\N	EFO	4	EFO	information entity	symmetrical dimethylarginine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006523	"quantification of the amount of asymmetrical dimethylarginine in blood. It is a structural isomer of asymmetric dimethyl argigine. It has been reported to be a marker for kidney disease,  often used a predictor of all-cause mortality after ischemic stroke" []	2999700	\N	\N	EFO	5	EFO	experimental factor	symmetrical dimethylarginine measurement
EFO:0006524	\N	\N	"quantification of the amount of L-arginine in a sample, eg in blood" []	EFO:0006524	"quantification of the amount of L-arginine in a sample, eg in blood" []	67801	\N	\N	EFO	0	EFO	L-arginine measurement	L-arginine measurement
EFO:0005134	EFO:0006524	\N	"quantification of some amino acid in a biological assay" []	EFO:0006524	"quantification of the amount of L-arginine in a sample, eg in blood" []	209527	\N	\N	EFO	1	EFO	amino acid measurement	L-arginine measurement
EFO:0001444	EFO:0005134	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006524	"quantification of the amount of L-arginine in a sample, eg in blood" []	562705	\N	\N	EFO	2	EFO	measurement	L-arginine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006524	"quantification of the amount of L-arginine in a sample, eg in blood" []	1144145	\N	\N	EFO	3	EFO	information entity	L-arginine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006524	"quantification of the amount of L-arginine in a sample, eg in blood" []	2026763	\N	\N	EFO	4	EFO	experimental factor	L-arginine measurement
EFO:0006525	\N	\N	"the quantification of the number of cigarettes that a subject smoked on average per day" []	EFO:0006525	"the quantification of the number of cigarettes that a subject smoked on average per day" []	67802	\N	\N	EFO	0	EFO	cigarettes per day measurement	cigarettes per day measurement
EFO:0005671	EFO:0006525	\N	"the quantification of some smoking or smoking-related behaviour, usually self-reported via a questionnaire" []	EFO:0006525	"the quantification of the number of cigarettes that a subject smoked on average per day" []	209528	\N	\N	EFO	1	EFO	smoking behaviour measurement	cigarettes per day measurement
EFO:0001444	EFO:0005671	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006525	"the quantification of the number of cigarettes that a subject smoked on average per day" []	562706	\N	\N	EFO	2	EFO	measurement	cigarettes per day measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006525	"the quantification of the number of cigarettes that a subject smoked on average per day" []	1144146	\N	\N	EFO	3	EFO	information entity	cigarettes per day measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006525	"the quantification of the number of cigarettes that a subject smoked on average per day" []	2026764	\N	\N	EFO	4	EFO	experimental factor	cigarettes per day measurement
EFO:0006526	\N	\N	"the quantification of the average number of packs smoked per day\\ntimes the total number of years a subject smoked during his/\\nher lifetime" []	EFO:0006526	"the quantification of the average number of packs smoked per day\\ntimes the total number of years a subject smoked during his/\\nher lifetime" []	67803	\N	\N	EFO	0	EFO	pack-years measurement	pack-years measurement
EFO:0005671	EFO:0006526	\N	"the quantification of some smoking or smoking-related behaviour, usually self-reported via a questionnaire" []	EFO:0006526	"the quantification of the average number of packs smoked per day\\ntimes the total number of years a subject smoked during his/\\nher lifetime" []	209529	\N	\N	EFO	1	EFO	smoking behaviour measurement	pack-years measurement
EFO:0001444	EFO:0005671	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006526	"the quantification of the average number of packs smoked per day\\ntimes the total number of years a subject smoked during his/\\nher lifetime" []	562707	\N	\N	EFO	2	EFO	measurement	pack-years measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006526	"the quantification of the average number of packs smoked per day\\ntimes the total number of years a subject smoked during his/\\nher lifetime" []	1144147	\N	\N	EFO	3	EFO	information entity	pack-years measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006526	"the quantification of the average number of packs smoked per day\\ntimes the total number of years a subject smoked during his/\\nher lifetime" []	2026765	\N	\N	EFO	4	EFO	experimental factor	pack-years measurement
EFO:0006527	\N	\N	"self-reported binary measure, used to denote whether an individual is currently or has ever been a smoker" []	EFO:0006527	"self-reported binary measure, used to denote whether an individual is currently or has ever been a smoker" []	67804	\N	\N	EFO	0	EFO	smoking status measurement	smoking status measurement
EFO:0005671	EFO:0006527	\N	"the quantification of some smoking or smoking-related behaviour, usually self-reported via a questionnaire" []	EFO:0006527	"self-reported binary measure, used to denote whether an individual is currently or has ever been a smoker" []	209530	\N	\N	EFO	1	EFO	smoking behaviour measurement	smoking status measurement
EFO:0001444	EFO:0005671	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006527	"self-reported binary measure, used to denote whether an individual is currently or has ever been a smoker" []	562708	\N	\N	EFO	2	EFO	measurement	smoking status measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006527	"self-reported binary measure, used to denote whether an individual is currently or has ever been a smoker" []	1144148	\N	\N	EFO	3	EFO	information entity	smoking status measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006527	"self-reported binary measure, used to denote whether an individual is currently or has ever been a smoker" []	2026766	\N	\N	EFO	4	EFO	experimental factor	smoking status measurement
EFO:0006528	\N	\N	"human gastric adenocarcinoma cell line established from the primary tumor of a 72-year-old man with gastric adenocarcinoma in 1987 confirmed as human with IEF of AST, MDH" []	EFO:0006528	"human gastric adenocarcinoma cell line established from the primary tumor of a 72-year-old man with gastric adenocarcinoma in 1987 confirmed as human with IEF of AST, MDH" []	67805	\N	\N	EFO	0	EFO	23132/87	23132/87
EFO:0001639	EFO:0006528	\N	"" []	EFO:0006528	"human gastric adenocarcinoma cell line established from the primary tumor of a 72-year-old man with gastric adenocarcinoma in 1987 confirmed as human with IEF of AST, MDH" []	209531	\N	\N	EFO	1	EFO	cancer cell line	23132/87
EFO:0001641	EFO:0006528	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006528	"human gastric adenocarcinoma cell line established from the primary tumor of a 72-year-old man with gastric adenocarcinoma in 1987 confirmed as human with IEF of AST, MDH" []	209532	\N	\N	EFO	1	EFO	epithelial cell derived cell line	23132/87
EFO:0002888	EFO:0006528	\N	"" []	EFO:0006528	"human gastric adenocarcinoma cell line established from the primary tumor of a 72-year-old man with gastric adenocarcinoma in 1987 confirmed as human with IEF of AST, MDH" []	209533	\N	\N	EFO	1	EFO	Homo sapiens cell line	23132/87
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006528	"human gastric adenocarcinoma cell line established from the primary tumor of a 72-year-old man with gastric adenocarcinoma in 1987 confirmed as human with IEF of AST, MDH" []	562709	\N	\N	EFO	2	EFO	cell line	23132/87
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006528	"human gastric adenocarcinoma cell line established from the primary tumor of a 72-year-old man with gastric adenocarcinoma in 1987 confirmed as human with IEF of AST, MDH" []	562710	\N	\N	EFO	2	EFO	cell line	23132/87
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006528	"human gastric adenocarcinoma cell line established from the primary tumor of a 72-year-old man with gastric adenocarcinoma in 1987 confirmed as human with IEF of AST, MDH" []	562711	\N	\N	EFO	2	EFO	cell line	23132/87
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006528	"human gastric adenocarcinoma cell line established from the primary tumor of a 72-year-old man with gastric adenocarcinoma in 1987 confirmed as human with IEF of AST, MDH" []	1144149	\N	\N	EFO	3	EFO	material entity	23132/87
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006528	"human gastric adenocarcinoma cell line established from the primary tumor of a 72-year-old man with gastric adenocarcinoma in 1987 confirmed as human with IEF of AST, MDH" []	2026767	\N	\N	EFO	4	EFO	experimental factor	23132/87
EFO:0006529	\N	\N	"mouse embryonic stem cells derived from 129/01a male mouse. Feeder-free cell line" []	EFO:0006529	"mouse embryonic stem cells derived from 129/01a male mouse. Feeder-free cell line" []	67806	\N	\N	EFO	0	EFO	2TS22C	2TS22C
EFO:0002887	EFO:0006529	\N	"Cell lines derived from mice." []	EFO:0006529	"mouse embryonic stem cells derived from 129/01a male mouse. Feeder-free cell line" []	209534	\N	\N	EFO	1	EFO	mouse cell line	2TS22C
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006529	"mouse embryonic stem cells derived from 129/01a male mouse. Feeder-free cell line" []	562712	\N	\N	EFO	2	EFO	cell line	2TS22C
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006529	"mouse embryonic stem cells derived from 129/01a male mouse. Feeder-free cell line" []	1144150	\N	\N	EFO	3	EFO	material entity	2TS22C
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006529	"mouse embryonic stem cells derived from 129/01a male mouse. Feeder-free cell line" []	2026768	\N	\N	EFO	4	EFO	experimental factor	2TS22C
EFO:0006530	\N	\N	"mouse multiple myeloma cell line" []	EFO:0006530	"mouse multiple myeloma cell line" []	67807	\N	\N	EFO	0	EFO	5T33MM	5T33MM
EFO:0001639	EFO:0006530	\N	"" []	EFO:0006530	"mouse multiple myeloma cell line" []	209535	\N	\N	EFO	1	EFO	cancer cell line	5T33MM
EFO:0002887	EFO:0006530	\N	"Cell lines derived from mice." []	EFO:0006530	"mouse multiple myeloma cell line" []	209536	\N	\N	EFO	1	EFO	mouse cell line	5T33MM
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006530	"mouse multiple myeloma cell line" []	562713	\N	\N	EFO	2	EFO	cell line	5T33MM
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006530	"mouse multiple myeloma cell line" []	562714	\N	\N	EFO	2	EFO	cell line	5T33MM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006530	"mouse multiple myeloma cell line" []	1144151	\N	\N	EFO	3	EFO	material entity	5T33MM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006530	"mouse multiple myeloma cell line" []	2026769	\N	\N	EFO	4	EFO	experimental factor	5T33MM
EFO:0006531	\N	\N	"human melanoma cell line designated 888-mel has been developed from the resected tumor of a 26-year old Caucasian female (patient 888) diagnosed with metastatic melanoma - See more at: https://ttc.nci.nih.gov/opportunities/opportunity.php?opp_id=34826089312#sthash.to7UCByK.dpuf" []	EFO:0006531	"human melanoma cell line designated 888-mel has been developed from the resected tumor of a 26-year old Caucasian female (patient 888) diagnosed with metastatic melanoma - See more at: https://ttc.nci.nih.gov/opportunities/opportunity.php?opp_id=34826089312#sthash.to7UCByK.dpuf" []	67808	\N	\N	EFO	0	EFO	888-mel	888-mel
BTO:0000849	EFO:0006531	\N	"" []	EFO:0006531	"human melanoma cell line designated 888-mel has been developed from the resected tumor of a 26-year old Caucasian female (patient 888) diagnosed with metastatic melanoma - See more at: https://ttc.nci.nih.gov/opportunities/opportunity.php?opp_id=34826089312#sthash.to7UCByK.dpuf" []	209537	\N	\N	EFO	1	EFO	melanoma cell line	888-mel
EFO:0002888	EFO:0006531	\N	"" []	EFO:0006531	"human melanoma cell line designated 888-mel has been developed from the resected tumor of a 26-year old Caucasian female (patient 888) diagnosed with metastatic melanoma - See more at: https://ttc.nci.nih.gov/opportunities/opportunity.php?opp_id=34826089312#sthash.to7UCByK.dpuf" []	209538	\N	\N	EFO	1	EFO	Homo sapiens cell line	888-mel
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006531	"human melanoma cell line designated 888-mel has been developed from the resected tumor of a 26-year old Caucasian female (patient 888) diagnosed with metastatic melanoma - See more at: https://ttc.nci.nih.gov/opportunities/opportunity.php?opp_id=34826089312#sthash.to7UCByK.dpuf" []	562715	\N	\N	EFO	2	EFO	cancer cell line	888-mel
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006531	"human melanoma cell line designated 888-mel has been developed from the resected tumor of a 26-year old Caucasian female (patient 888) diagnosed with metastatic melanoma - See more at: https://ttc.nci.nih.gov/opportunities/opportunity.php?opp_id=34826089312#sthash.to7UCByK.dpuf" []	562716	\N	\N	EFO	2	EFO	cell line	888-mel
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006531	"human melanoma cell line designated 888-mel has been developed from the resected tumor of a 26-year old Caucasian female (patient 888) diagnosed with metastatic melanoma - See more at: https://ttc.nci.nih.gov/opportunities/opportunity.php?opp_id=34826089312#sthash.to7UCByK.dpuf" []	1144152	\N	\N	EFO	3	EFO	cell line	888-mel
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006531	"human melanoma cell line designated 888-mel has been developed from the resected tumor of a 26-year old Caucasian female (patient 888) diagnosed with metastatic melanoma - See more at: https://ttc.nci.nih.gov/opportunities/opportunity.php?opp_id=34826089312#sthash.to7UCByK.dpuf" []	2026770	\N	\N	EFO	4	EFO	material entity	888-mel
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006531	"human melanoma cell line designated 888-mel has been developed from the resected tumor of a 26-year old Caucasian female (patient 888) diagnosed with metastatic melanoma - See more at: https://ttc.nci.nih.gov/opportunities/opportunity.php?opp_id=34826089312#sthash.to7UCByK.dpuf" []	2999701	\N	\N	EFO	5	EFO	experimental factor	888-mel
EFO:0006532	\N	\N	"human lymphoma cell line from a 68 year old female Japanese patient with stomach cancer and lymphoma" []	EFO:0006532	"human lymphoma cell line from a 68 year old female Japanese patient with stomach cancer and lymphoma" []	67809	\N	\N	EFO	0	EFO	A3/KAW	A3/KAW
EFO:0002888	EFO:0006532	\N	"" []	EFO:0006532	"human lymphoma cell line from a 68 year old female Japanese patient with stomach cancer and lymphoma" []	209539	\N	\N	EFO	1	EFO	Homo sapiens cell line	A3/KAW
EFO:0002937	EFO:0006532	\N	"" []	EFO:0006532	"human lymphoma cell line from a 68 year old female Japanese patient with stomach cancer and lymphoma" []	209540	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	A3/KAW
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006532	"human lymphoma cell line from a 68 year old female Japanese patient with stomach cancer and lymphoma" []	562717	\N	\N	EFO	2	EFO	cell line	A3/KAW
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006532	"human lymphoma cell line from a 68 year old female Japanese patient with stomach cancer and lymphoma" []	562718	\N	\N	EFO	2	EFO	cancer cell line	A3/KAW
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006532	"human lymphoma cell line from a 68 year old female Japanese patient with stomach cancer and lymphoma" []	2026773	\N	\N	EFO	4	EFO	material entity	A3/KAW
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006532	"human lymphoma cell line from a 68 year old female Japanese patient with stomach cancer and lymphoma" []	1144155	\N	\N	EFO	3	EFO	cell line	A3/KAW
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006532	"human lymphoma cell line from a 68 year old female Japanese patient with stomach cancer and lymphoma" []	2999702	\N	\N	EFO	5	EFO	experimental factor	A3/KAW
EFO:0006533	\N	\N	"human lymphoma cell line from a 52 year old female Japanese patient with malignant melanoma" []	EFO:0006533	"human lymphoma cell line from a 52 year old female Japanese patient with malignant melanoma" []	67810	\N	\N	EFO	0	EFO	A4/Fuk	A4/Fuk
EFO:0002888	EFO:0006533	\N	"" []	EFO:0006533	"human lymphoma cell line from a 52 year old female Japanese patient with malignant melanoma" []	209541	\N	\N	EFO	1	EFO	Homo sapiens cell line	A4/Fuk
EFO:0002937	EFO:0006533	\N	"" []	EFO:0006533	"human lymphoma cell line from a 52 year old female Japanese patient with malignant melanoma" []	209542	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	A4/Fuk
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006533	"human lymphoma cell line from a 52 year old female Japanese patient with malignant melanoma" []	562719	\N	\N	EFO	2	EFO	cell line	A4/Fuk
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006533	"human lymphoma cell line from a 52 year old female Japanese patient with malignant melanoma" []	562720	\N	\N	EFO	2	EFO	cancer cell line	A4/Fuk
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006533	"human lymphoma cell line from a 52 year old female Japanese patient with malignant melanoma" []	2026775	\N	\N	EFO	4	EFO	material entity	A4/Fuk
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006533	"human lymphoma cell line from a 52 year old female Japanese patient with malignant melanoma" []	1144157	\N	\N	EFO	3	EFO	cell line	A4/Fuk
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006533	"human lymphoma cell line from a 52 year old female Japanese patient with malignant melanoma" []	2999703	\N	\N	EFO	5	EFO	experimental factor	A4/Fuk
EFO:0006534	\N	\N	"human plasmacytoma cell line from a 64 year old female patient (DSMZ catalog number ACC 583)" []	EFO:0006534	"human plasmacytoma cell line from a 64 year old female patient (DSMZ catalog number ACC 583)" []	67811	\N	\N	EFO	0	EFO	AMO-1	AMO-1
EFO:0001639	EFO:0006534	\N	"" []	EFO:0006534	"human plasmacytoma cell line from a 64 year old female patient (DSMZ catalog number ACC 583)" []	209543	\N	\N	EFO	1	EFO	cancer cell line	AMO-1
EFO:0002888	EFO:0006534	\N	"" []	EFO:0006534	"human plasmacytoma cell line from a 64 year old female patient (DSMZ catalog number ACC 583)" []	209544	\N	\N	EFO	1	EFO	Homo sapiens cell line	AMO-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006534	"human plasmacytoma cell line from a 64 year old female patient (DSMZ catalog number ACC 583)" []	562721	\N	\N	EFO	2	EFO	cell line	AMO-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006534	"human plasmacytoma cell line from a 64 year old female patient (DSMZ catalog number ACC 583)" []	562722	\N	\N	EFO	2	EFO	cell line	AMO-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006534	"human plasmacytoma cell line from a 64 year old female patient (DSMZ catalog number ACC 583)" []	1144158	\N	\N	EFO	3	EFO	material entity	AMO-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006534	"human plasmacytoma cell line from a 64 year old female patient (DSMZ catalog number ACC 583)" []	2026776	\N	\N	EFO	4	EFO	experimental factor	AMO-1
EFO:0006535	\N	\N	"human colorectal carcinoma cell line from an adult male patient (ATCC CRL-2780)" []	EFO:0006535	"human colorectal carcinoma cell line from an adult male patient (ATCC CRL-2780)" []	67812	\N	\N	EFO	0	EFO	ATRFLOX	ATRFLOX
BTO:0000797	\N	\N	"" []	EFO:0006535	"human colorectal carcinoma cell line from an adult male patient (ATCC CRL-2780)" []	194787	\N	\N	EFO	0	EFO	colonic cancer cell line	ATRFLOX
BTO:0003250	\N	\N	"" []	EFO:0006535	"human colorectal carcinoma cell line from an adult male patient (ATCC CRL-2780)" []	194788	\N	\N	EFO	0	EFO	colonic epithelium cell line	ATRFLOX
EFO:0001639	EFO:0006535	\N	"" []	EFO:0006535	"human colorectal carcinoma cell line from an adult male patient (ATCC CRL-2780)" []	209545	\N	\N	EFO	1	EFO	cancer cell line	ATRFLOX
EFO:0002888	EFO:0006535	\N	"" []	EFO:0006535	"human colorectal carcinoma cell line from an adult male patient (ATCC CRL-2780)" []	209546	\N	\N	EFO	1	EFO	Homo sapiens cell line	ATRFLOX
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006535	"human colorectal carcinoma cell line from an adult male patient (ATCC CRL-2780)" []	562723	\N	\N	EFO	2	EFO	cell line	ATRFLOX
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006535	"human colorectal carcinoma cell line from an adult male patient (ATCC CRL-2780)" []	562724	\N	\N	EFO	2	EFO	cell line	ATRFLOX
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006535	"human colorectal carcinoma cell line from an adult male patient (ATCC CRL-2780)" []	1144159	\N	\N	EFO	3	EFO	material entity	ATRFLOX
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006535	"human colorectal carcinoma cell line from an adult male patient (ATCC CRL-2780)" []	2026777	\N	\N	EFO	4	EFO	experimental factor	ATRFLOX
EFO:0006537	\N	\N	"human carcinoma cell line established from the supraclavicular tumor cells-containing lymph node of a 71-year-old man with poorly differentiated carcinoma of the lung (DSMZ calatog number: ACC 254)" []	EFO:0006537	"human carcinoma cell line established from the supraclavicular tumor cells-containing lymph node of a 71-year-old man with poorly differentiated carcinoma of the lung (DSMZ calatog number: ACC 254)" []	67813	\N	\N	EFO	0	EFO	BEN	BEN
EFO:0001641	EFO:0006537	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006537	"human carcinoma cell line established from the supraclavicular tumor cells-containing lymph node of a 71-year-old man with poorly differentiated carcinoma of the lung (DSMZ calatog number: ACC 254)" []	209547	\N	\N	EFO	1	EFO	epithelial cell derived cell line	BEN
EFO:0002888	EFO:0006537	\N	"" []	EFO:0006537	"human carcinoma cell line established from the supraclavicular tumor cells-containing lymph node of a 71-year-old man with poorly differentiated carcinoma of the lung (DSMZ calatog number: ACC 254)" []	209548	\N	\N	EFO	1	EFO	Homo sapiens cell line	BEN
EFO:0002934	EFO:0006537	\N	"" []	EFO:0006537	"human carcinoma cell line established from the supraclavicular tumor cells-containing lymph node of a 71-year-old man with poorly differentiated carcinoma of the lung (DSMZ calatog number: ACC 254)" []	209549	\N	\N	EFO	1	EFO	lung cancer cell line	BEN
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006537	"human carcinoma cell line established from the supraclavicular tumor cells-containing lymph node of a 71-year-old man with poorly differentiated carcinoma of the lung (DSMZ calatog number: ACC 254)" []	562725	\N	\N	EFO	2	EFO	cell line	BEN
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006537	"human carcinoma cell line established from the supraclavicular tumor cells-containing lymph node of a 71-year-old man with poorly differentiated carcinoma of the lung (DSMZ calatog number: ACC 254)" []	562726	\N	\N	EFO	2	EFO	cell line	BEN
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006537	"human carcinoma cell line established from the supraclavicular tumor cells-containing lymph node of a 71-year-old man with poorly differentiated carcinoma of the lung (DSMZ calatog number: ACC 254)" []	562727	\N	\N	EFO	2	EFO	cancer cell line	BEN
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006537	"human carcinoma cell line established from the supraclavicular tumor cells-containing lymph node of a 71-year-old man with poorly differentiated carcinoma of the lung (DSMZ calatog number: ACC 254)" []	2026779	\N	\N	EFO	4	EFO	material entity	BEN
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006537	"human carcinoma cell line established from the supraclavicular tumor cells-containing lymph node of a 71-year-old man with poorly differentiated carcinoma of the lung (DSMZ calatog number: ACC 254)" []	1144161	\N	\N	EFO	3	EFO	cell line	BEN
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006537	"human carcinoma cell line established from the supraclavicular tumor cells-containing lymph node of a 71-year-old man with poorly differentiated carcinoma of the lung (DSMZ calatog number: ACC 254)" []	2999704	\N	\N	EFO	5	EFO	experimental factor	BEN
EFO:0006538	\N	\N	"human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" []	EFO:0006538	"human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" []	67814	\N	\N	EFO	0	EFO	BFTC-909	BFTC-909
EFO:0001639	EFO:0006538	\N	"" []	EFO:0006538	"human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" []	209550	\N	\N	EFO	1	EFO	cancer cell line	BFTC-909
EFO:0001641	EFO:0006538	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006538	"human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" []	209551	\N	\N	EFO	1	EFO	epithelial cell derived cell line	BFTC-909
EFO:0001643	EFO:0006538	\N	"" []	EFO:0006538	"human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" []	209552	\N	\N	EFO	1	EFO	kidney derived cell line	BFTC-909
EFO:0002888	EFO:0006538	\N	"" []	EFO:0006538	"human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" []	209553	\N	\N	EFO	1	EFO	Homo sapiens cell line	BFTC-909
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006538	"human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" []	562728	\N	\N	EFO	2	EFO	cell line	BFTC-909
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006538	"human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" []	562729	\N	\N	EFO	2	EFO	cell line	BFTC-909
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006538	"human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" []	562730	\N	\N	EFO	2	EFO	cell line	BFTC-909
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006538	"human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" []	562731	\N	\N	EFO	2	EFO	cell line	BFTC-909
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006538	"human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" []	1144162	\N	\N	EFO	3	EFO	material entity	BFTC-909
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006538	"human cell carcinoma established from the sarcomatoid component of a grade III transitional cell carcinoma of the renal pelvis of a 64-year-old man in 1990; patient lived in a blackfoot disease endemic area in Taiwan (DSMZ catalog number ACC 367)" []	2026780	\N	\N	EFO	4	EFO	experimental factor	BFTC-909
EFO:0006539	\N	\N	"human oral squamous cell carcinoma established from the tumor of a 52-year-old Japanese man with highly differentiated squamous cell carcinoma of the lower alveolus which was highly invasive to the mandibular bone and the muscle layer of the oral floor (DSMZ catalog number ACC 404)" []	EFO:0006539	"human oral squamous cell carcinoma established from the tumor of a 52-year-old Japanese man with highly differentiated squamous cell carcinoma of the lower alveolus which was highly invasive to the mandibular bone and the muscle layer of the oral floor (DSMZ catalog number ACC 404)" []	67815	\N	\N	EFO	0	EFO	BHY	BHY
EFO:0001639	EFO:0006539	\N	"" []	EFO:0006539	"human oral squamous cell carcinoma established from the tumor of a 52-year-old Japanese man with highly differentiated squamous cell carcinoma of the lower alveolus which was highly invasive to the mandibular bone and the muscle layer of the oral floor (DSMZ catalog number ACC 404)" []	209554	\N	\N	EFO	1	EFO	cancer cell line	BHY
EFO:0001641	EFO:0006539	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006539	"human oral squamous cell carcinoma established from the tumor of a 52-year-old Japanese man with highly differentiated squamous cell carcinoma of the lower alveolus which was highly invasive to the mandibular bone and the muscle layer of the oral floor (DSMZ catalog number ACC 404)" []	209555	\N	\N	EFO	1	EFO	epithelial cell derived cell line	BHY
EFO:0002888	EFO:0006539	\N	"" []	EFO:0006539	"human oral squamous cell carcinoma established from the tumor of a 52-year-old Japanese man with highly differentiated squamous cell carcinoma of the lower alveolus which was highly invasive to the mandibular bone and the muscle layer of the oral floor (DSMZ catalog number ACC 404)" []	209556	\N	\N	EFO	1	EFO	Homo sapiens cell line	BHY
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006539	"human oral squamous cell carcinoma established from the tumor of a 52-year-old Japanese man with highly differentiated squamous cell carcinoma of the lower alveolus which was highly invasive to the mandibular bone and the muscle layer of the oral floor (DSMZ catalog number ACC 404)" []	562732	\N	\N	EFO	2	EFO	cell line	BHY
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006539	"human oral squamous cell carcinoma established from the tumor of a 52-year-old Japanese man with highly differentiated squamous cell carcinoma of the lower alveolus which was highly invasive to the mandibular bone and the muscle layer of the oral floor (DSMZ catalog number ACC 404)" []	562733	\N	\N	EFO	2	EFO	cell line	BHY
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006539	"human oral squamous cell carcinoma established from the tumor of a 52-year-old Japanese man with highly differentiated squamous cell carcinoma of the lower alveolus which was highly invasive to the mandibular bone and the muscle layer of the oral floor (DSMZ catalog number ACC 404)" []	562734	\N	\N	EFO	2	EFO	cell line	BHY
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006539	"human oral squamous cell carcinoma established from the tumor of a 52-year-old Japanese man with highly differentiated squamous cell carcinoma of the lower alveolus which was highly invasive to the mandibular bone and the muscle layer of the oral floor (DSMZ catalog number ACC 404)" []	1144163	\N	\N	EFO	3	EFO	material entity	BHY
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006539	"human oral squamous cell carcinoma established from the tumor of a 52-year-old Japanese man with highly differentiated squamous cell carcinoma of the lower alveolus which was highly invasive to the mandibular bone and the muscle layer of the oral floor (DSMZ catalog number ACC 404)" []	2026781	\N	\N	EFO	4	EFO	experimental factor	BHY
EFO:0006540	\N	\N	"human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)" []	EFO:0006540	"human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)" []	67816	\N	\N	EFO	0	EFO	BICR 10	BICR 10
EFO:0001639	EFO:0006540	\N	"" []	EFO:0006540	"human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)" []	209557	\N	\N	EFO	1	EFO	cancer cell line	BICR 10
EFO:0001641	EFO:0006540	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006540	"human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)" []	209558	\N	\N	EFO	1	EFO	epithelial cell derived cell line	BICR 10
EFO:0002888	EFO:0006540	\N	"" []	EFO:0006540	"human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)" []	209559	\N	\N	EFO	1	EFO	Homo sapiens cell line	BICR 10
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006540	"human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)" []	562735	\N	\N	EFO	2	EFO	cell line	BICR 10
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006540	"human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)" []	562736	\N	\N	EFO	2	EFO	cell line	BICR 10
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006540	"human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)" []	562737	\N	\N	EFO	2	EFO	cell line	BICR 10
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006540	"human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)" []	1144164	\N	\N	EFO	3	EFO	material entity	BICR 10
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006540	"human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)" []	2026782	\N	\N	EFO	4	EFO	experimental factor	BICR 10
EFO:0006541	\N	\N	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072106)" []	EFO:0006541	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072106)" []	67817	\N	\N	EFO	0	EFO	BICR 22	BICR 22
EFO:0001639	EFO:0006541	\N	"" []	EFO:0006541	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072106)" []	209560	\N	\N	EFO	1	EFO	cancer cell line	BICR 22
EFO:0001641	EFO:0006541	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006541	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072106)" []	209561	\N	\N	EFO	1	EFO	epithelial cell derived cell line	BICR 22
EFO:0002888	EFO:0006541	\N	"" []	EFO:0006541	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072106)" []	209562	\N	\N	EFO	1	EFO	Homo sapiens cell line	BICR 22
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006541	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072106)" []	562738	\N	\N	EFO	2	EFO	cell line	BICR 22
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006541	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072106)" []	562739	\N	\N	EFO	2	EFO	cell line	BICR 22
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006541	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072106)" []	562740	\N	\N	EFO	2	EFO	cell line	BICR 22
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006541	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072106)" []	1144165	\N	\N	EFO	3	EFO	material entity	BICR 22
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006541	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072106)" []	2026783	\N	\N	EFO	4	EFO	experimental factor	BICR 22
EFO:0006542	\N	\N	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072107)" []	EFO:0006542	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072107)" []	67818	\N	\N	EFO	0	EFO	BICR 31	BICR 31
EFO:0001639	EFO:0006542	\N	"" []	EFO:0006542	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072107)" []	209563	\N	\N	EFO	1	EFO	cancer cell line	BICR 31
EFO:0001641	EFO:0006542	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006542	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072107)" []	209564	\N	\N	EFO	1	EFO	epithelial cell derived cell line	BICR 31
EFO:0002888	EFO:0006542	\N	"" []	EFO:0006542	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072107)" []	209565	\N	\N	EFO	1	EFO	Homo sapiens cell line	BICR 31
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006542	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072107)" []	562741	\N	\N	EFO	2	EFO	cell line	BICR 31
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006542	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072107)" []	562742	\N	\N	EFO	2	EFO	cell line	BICR 31
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006542	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072107)" []	562743	\N	\N	EFO	2	EFO	cell line	BICR 31
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006542	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072107)" []	1144166	\N	\N	EFO	3	EFO	material entity	BICR 31
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006542	"human cell line derived from a lymph node metastasis squamous cell carcinoma of the tongue of a Caucasian male (Sigma catalog number 04072107)" []	2026784	\N	\N	EFO	4	EFO	experimental factor	BICR 31
EFO:0006543	\N	\N	"human cell line derived from a squamous cell carcinoma of the oral alveolus of a Caucasian male (Sigma catalog number 04072111)" []	EFO:0006543	"human cell line derived from a squamous cell carcinoma of the oral alveolus of a Caucasian male (Sigma catalog number 04072111)" []	67819	\N	\N	EFO	0	EFO	BICR 78	BICR 78
EFO:0001639	EFO:0006543	\N	"" []	EFO:0006543	"human cell line derived from a squamous cell carcinoma of the oral alveolus of a Caucasian male (Sigma catalog number 04072111)" []	209566	\N	\N	EFO	1	EFO	cancer cell line	BICR 78
EFO:0001641	EFO:0006543	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006543	"human cell line derived from a squamous cell carcinoma of the oral alveolus of a Caucasian male (Sigma catalog number 04072111)" []	209567	\N	\N	EFO	1	EFO	epithelial cell derived cell line	BICR 78
EFO:0002888	EFO:0006543	\N	"" []	EFO:0006543	"human cell line derived from a squamous cell carcinoma of the oral alveolus of a Caucasian male (Sigma catalog number 04072111)" []	209568	\N	\N	EFO	1	EFO	Homo sapiens cell line	BICR 78
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006543	"human cell line derived from a squamous cell carcinoma of the oral alveolus of a Caucasian male (Sigma catalog number 04072111)" []	562744	\N	\N	EFO	2	EFO	cell line	BICR 78
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006543	"human cell line derived from a squamous cell carcinoma of the oral alveolus of a Caucasian male (Sigma catalog number 04072111)" []	562745	\N	\N	EFO	2	EFO	cell line	BICR 78
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006543	"human cell line derived from a squamous cell carcinoma of the oral alveolus of a Caucasian male (Sigma catalog number 04072111)" []	562746	\N	\N	EFO	2	EFO	cell line	BICR 78
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006543	"human cell line derived from a squamous cell carcinoma of the oral alveolus of a Caucasian male (Sigma catalog number 04072111)" []	1144167	\N	\N	EFO	3	EFO	material entity	BICR 78
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006543	"human cell line derived from a squamous cell carcinoma of the oral alveolus of a Caucasian male (Sigma catalog number 04072111)" []	2026785	\N	\N	EFO	4	EFO	experimental factor	BICR 78
EFO:0006544	\N	\N	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	67820	\N	\N	EFO	0	EFO	bladder transitional cell carcinoma	bladder transitional cell carcinoma
EFO:0000292	EFO:0006544	\N	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	209569	\N	\N	EFO	1	EFO	bladder carcinoma	bladder transitional cell carcinoma
EFO:0000313	EFO:0000292	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	562747	\N	\N	EFO	2	EFO	carcinoma	bladder transitional cell carcinoma
EFO:1000018	EFO:0000292	\N	"A disorder affecting the urinary bladder" []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	562748	\N	\N	EFO	2	EFO	bladder disease	bladder transitional cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	1144168	\N	\N	EFO	3	EFO	cancer	bladder transitional cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	1144169	\N	\N	EFO	3	EFO	epithelial neoplasm	bladder transitional cell carcinoma
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	1144170	\N	\N	EFO	3	EFO	disease	bladder transitional cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	2026786	\N	\N	EFO	4	EFO	neoplasm	bladder transitional cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	2026787	\N	\N	EFO	4	EFO	neoplasm	bladder transitional cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	4388364	\N	\N	EFO	6	EFO	disposition	bladder transitional cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	3178717	\N	\N	EFO	5	EFO	disease	bladder transitional cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	5059364	\N	\N	EFO	7	EFO	material property	bladder transitional cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006544	"The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." []	5876544	\N	\N	EFO	8	EFO	experimental factor	bladder transitional cell carcinoma
EFO:0006545	\N	\N	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	67821	\N	\N	EFO	0	EFO	brain glioblastoma	brain glioblastoma
EFO:0000519	EFO:0006545	\N	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	209570	\N	\N	EFO	1	EFO	glioblastoma multiforme	brain glioblastoma
EFO:0000272	EFO:0000519	\N	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	562749	\N	\N	EFO	2	EFO	astrocytoma	brain glioblastoma
EFO:0005543	EFO:0000272	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	1144171	\N	\N	EFO	3	EFO	glioma	brain glioblastoma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	2026789	\N	\N	EFO	4	EFO	central nervous system cancer	brain glioblastoma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	2026790	\N	\N	EFO	4	EFO	brain neoplasm	brain glioblastoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	3178719	\N	\N	EFO	5	EFO	cancer	brain glioblastoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	3178720	\N	\N	EFO	5	EFO	nervous system disease	brain glioblastoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	3178721	\N	\N	EFO	5	EFO	neoplasm	brain glioblastoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	3178722	\N	\N	EFO	5	EFO	brain disease	brain glioblastoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	4388366	\N	\N	EFO	6	EFO	neoplasm	brain glioblastoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	5408870	\N	\N	EFO	7	EFO	disease	brain glioblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	5408868	\N	\N	EFO	7	EFO	disease	brain glioblastoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	4388369	\N	\N	EFO	6	EFO	nervous system disease	brain glioblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	5996621	\N	\N	EFO	8	EFO	disposition	brain glioblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	6550382	\N	\N	EFO	9	EFO	material property	brain glioblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006545	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	6888975	\N	\N	EFO	10	EFO	experimental factor	brain glioblastoma
EFO:0006546	\N	\N	"human colorectal carcinoma cell line from a 72 year old male patient (ATCC CRL-2102)" []	EFO:0006546	"human colorectal carcinoma cell line from a 72 year old male patient (ATCC CRL-2102)" []	67822	\N	\N	EFO	0	EFO	C2BBe1	C2BBe1
BTO:0000797	\N	\N	"" []	EFO:0006546	"human colorectal carcinoma cell line from a 72 year old male patient (ATCC CRL-2102)" []	194789	\N	\N	EFO	0	EFO	colonic cancer cell line	C2BBe1
BTO:0003250	\N	\N	"" []	EFO:0006546	"human colorectal carcinoma cell line from a 72 year old male patient (ATCC CRL-2102)" []	194790	\N	\N	EFO	0	EFO	colonic epithelium cell line	C2BBe1
EFO:0001639	EFO:0006546	\N	"" []	EFO:0006546	"human colorectal carcinoma cell line from a 72 year old male patient (ATCC CRL-2102)" []	209571	\N	\N	EFO	1	EFO	cancer cell line	C2BBe1
EFO:0002888	EFO:0006546	\N	"" []	EFO:0006546	"human colorectal carcinoma cell line from a 72 year old male patient (ATCC CRL-2102)" []	209572	\N	\N	EFO	1	EFO	Homo sapiens cell line	C2BBe1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006546	"human colorectal carcinoma cell line from a 72 year old male patient (ATCC CRL-2102)" []	562750	\N	\N	EFO	2	EFO	cell line	C2BBe1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006546	"human colorectal carcinoma cell line from a 72 year old male patient (ATCC CRL-2102)" []	562751	\N	\N	EFO	2	EFO	cell line	C2BBe1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006546	"human colorectal carcinoma cell line from a 72 year old male patient (ATCC CRL-2102)" []	1144172	\N	\N	EFO	3	EFO	material entity	C2BBe1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006546	"human colorectal carcinoma cell line from a 72 year old male patient (ATCC CRL-2102)" []	2026791	\N	\N	EFO	4	EFO	experimental factor	C2BBe1
EFO:0006547	\N	\N	"human cell lung carcinoma line established from a male patient with a non-small cell lung carcinoma in 1981 (DSMZ catalog number ACC 443)" []	EFO:0006547	"human cell lung carcinoma line established from a male patient with a non-small cell lung carcinoma in 1981 (DSMZ catalog number ACC 443)" []	67823	\N	\N	EFO	0	EFO	CAL-12T	CAL-12T
EFO:0001641	EFO:0006547	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006547	"human cell lung carcinoma line established from a male patient with a non-small cell lung carcinoma in 1981 (DSMZ catalog number ACC 443)" []	209573	\N	\N	EFO	1	EFO	epithelial cell derived cell line	CAL-12T
EFO:0002888	EFO:0006547	\N	"" []	EFO:0006547	"human cell lung carcinoma line established from a male patient with a non-small cell lung carcinoma in 1981 (DSMZ catalog number ACC 443)" []	209574	\N	\N	EFO	1	EFO	Homo sapiens cell line	CAL-12T
EFO:0002934	EFO:0006547	\N	"" []	EFO:0006547	"human cell lung carcinoma line established from a male patient with a non-small cell lung carcinoma in 1981 (DSMZ catalog number ACC 443)" []	209575	\N	\N	EFO	1	EFO	lung cancer cell line	CAL-12T
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006547	"human cell lung carcinoma line established from a male patient with a non-small cell lung carcinoma in 1981 (DSMZ catalog number ACC 443)" []	562752	\N	\N	EFO	2	EFO	cell line	CAL-12T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006547	"human cell lung carcinoma line established from a male patient with a non-small cell lung carcinoma in 1981 (DSMZ catalog number ACC 443)" []	562753	\N	\N	EFO	2	EFO	cell line	CAL-12T
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006547	"human cell lung carcinoma line established from a male patient with a non-small cell lung carcinoma in 1981 (DSMZ catalog number ACC 443)" []	562754	\N	\N	EFO	2	EFO	cancer cell line	CAL-12T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006547	"human cell lung carcinoma line established from a male patient with a non-small cell lung carcinoma in 1981 (DSMZ catalog number ACC 443)" []	2026793	\N	\N	EFO	4	EFO	material entity	CAL-12T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006547	"human cell lung carcinoma line established from a male patient with a non-small cell lung carcinoma in 1981 (DSMZ catalog number ACC 443)" []	1144174	\N	\N	EFO	3	EFO	cell line	CAL-12T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006547	"human cell lung carcinoma line established from a male patient with a non-small cell lung carcinoma in 1981 (DSMZ catalog number ACC 443)" []	2999705	\N	\N	EFO	5	EFO	experimental factor	CAL-12T
EFO:0006548	\N	\N	"human rectal carcinoma cell line establish from a metastatic lymph node of a 70-year-old male patient with primary rectal adenocarcinoma" []	EFO:0006548	"human rectal carcinoma cell line establish from a metastatic lymph node of a 70-year-old male patient with primary rectal adenocarcinoma" []	67824	\N	\N	EFO	0	EFO	CaR-1	CaR-1
BTO:0000797	\N	\N	"" []	EFO:0006548	"human rectal carcinoma cell line establish from a metastatic lymph node of a 70-year-old male patient with primary rectal adenocarcinoma" []	194791	\N	\N	EFO	0	EFO	colonic cancer cell line	CaR-1
EFO:0001639	EFO:0006548	\N	"" []	EFO:0006548	"human rectal carcinoma cell line establish from a metastatic lymph node of a 70-year-old male patient with primary rectal adenocarcinoma" []	209576	\N	\N	EFO	1	EFO	cancer cell line	CaR-1
EFO:0002888	EFO:0006548	\N	"" []	EFO:0006548	"human rectal carcinoma cell line establish from a metastatic lymph node of a 70-year-old male patient with primary rectal adenocarcinoma" []	209577	\N	\N	EFO	1	EFO	Homo sapiens cell line	CaR-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006548	"human rectal carcinoma cell line establish from a metastatic lymph node of a 70-year-old male patient with primary rectal adenocarcinoma" []	562755	\N	\N	EFO	2	EFO	cell line	CaR-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006548	"human rectal carcinoma cell line establish from a metastatic lymph node of a 70-year-old male patient with primary rectal adenocarcinoma" []	562756	\N	\N	EFO	2	EFO	cell line	CaR-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006548	"human rectal carcinoma cell line establish from a metastatic lymph node of a 70-year-old male patient with primary rectal adenocarcinoma" []	1144175	\N	\N	EFO	3	EFO	material entity	CaR-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006548	"human rectal carcinoma cell line establish from a metastatic lymph node of a 70-year-old male patient with primary rectal adenocarcinoma" []	2026794	\N	\N	EFO	4	EFO	experimental factor	CaR-1
EFO:0006549	\N	\N	"human cervical epidermoid carcinoma cell line from a 40 year old female Caucasian patient (ATCC CRL-1550)" []	EFO:0006549	"human cervical epidermoid carcinoma cell line from a 40 year old female Caucasian patient (ATCC CRL-1550)" []	67825	\N	\N	EFO	0	EFO	CaSki	CaSki
EFO:0001639	EFO:0006549	\N	"" []	EFO:0006549	"human cervical epidermoid carcinoma cell line from a 40 year old female Caucasian patient (ATCC CRL-1550)" []	209578	\N	\N	EFO	1	EFO	cancer cell line	CaSki
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006549	"human cervical epidermoid carcinoma cell line from a 40 year old female Caucasian patient (ATCC CRL-1550)" []	562757	\N	\N	EFO	2	EFO	cell line	CaSki
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006549	"human cervical epidermoid carcinoma cell line from a 40 year old female Caucasian patient (ATCC CRL-1550)" []	1144176	\N	\N	EFO	3	EFO	material entity	CaSki
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006549	"human cervical epidermoid carcinoma cell line from a 40 year old female Caucasian patient (ATCC CRL-1550)" []	2026795	\N	\N	EFO	4	EFO	experimental factor	CaSki
EFO:0006550	\N	\N	"human lymphoma cell line from a 11.5 year old male Caucasian patient (ATCC CCL-120)" []	EFO:0006550	"human lymphoma cell line from a 11.5 year old male Caucasian patient (ATCC CCL-120)" []	67826	\N	\N	EFO	0	EFO	CCRF-SB	CCRF-SB
EFO:0001639	EFO:0006550	\N	"" []	EFO:0006550	"human lymphoma cell line from a 11.5 year old male Caucasian patient (ATCC CCL-120)" []	209579	\N	\N	EFO	1	EFO	cancer cell line	CCRF-SB
EFO:0002888	EFO:0006550	\N	"" []	EFO:0006550	"human lymphoma cell line from a 11.5 year old male Caucasian patient (ATCC CCL-120)" []	209580	\N	\N	EFO	1	EFO	Homo sapiens cell line	CCRF-SB
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006550	"human lymphoma cell line from a 11.5 year old male Caucasian patient (ATCC CCL-120)" []	562758	\N	\N	EFO	2	EFO	cell line	CCRF-SB
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006550	"human lymphoma cell line from a 11.5 year old male Caucasian patient (ATCC CCL-120)" []	562759	\N	\N	EFO	2	EFO	cell line	CCRF-SB
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006550	"human lymphoma cell line from a 11.5 year old male Caucasian patient (ATCC CCL-120)" []	1144177	\N	\N	EFO	3	EFO	material entity	CCRF-SB
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006550	"human lymphoma cell line from a 11.5 year old male Caucasian patient (ATCC CCL-120)" []	2026796	\N	\N	EFO	4	EFO	experimental factor	CCRF-SB
EFO:0006551	\N	\N	"human ductal pancreatic adenocarcinoma derived by differential trypsinisation of explant cultures from a metastatic lesion in the liver of a 26 year old caucasian male with cystic fibrosis (Sigma catalog number 91112501)" []	EFO:0006551	"human ductal pancreatic adenocarcinoma derived by differential trypsinisation of explant cultures from a metastatic lesion in the liver of a 26 year old caucasian male with cystic fibrosis (Sigma catalog number 91112501)" []	67827	\N	\N	EFO	0	EFO	CFPAC-1	CFPAC-1
EFO:0001639	EFO:0006551	\N	"" []	EFO:0006551	"human ductal pancreatic adenocarcinoma derived by differential trypsinisation of explant cultures from a metastatic lesion in the liver of a 26 year old caucasian male with cystic fibrosis (Sigma catalog number 91112501)" []	209581	\N	\N	EFO	1	EFO	cancer cell line	CFPAC-1
EFO:0001641	EFO:0006551	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006551	"human ductal pancreatic adenocarcinoma derived by differential trypsinisation of explant cultures from a metastatic lesion in the liver of a 26 year old caucasian male with cystic fibrosis (Sigma catalog number 91112501)" []	209582	\N	\N	EFO	1	EFO	epithelial cell derived cell line	CFPAC-1
EFO:0002888	EFO:0006551	\N	"" []	EFO:0006551	"human ductal pancreatic adenocarcinoma derived by differential trypsinisation of explant cultures from a metastatic lesion in the liver of a 26 year old caucasian male with cystic fibrosis (Sigma catalog number 91112501)" []	209583	\N	\N	EFO	1	EFO	Homo sapiens cell line	CFPAC-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006551	"human ductal pancreatic adenocarcinoma derived by differential trypsinisation of explant cultures from a metastatic lesion in the liver of a 26 year old caucasian male with cystic fibrosis (Sigma catalog number 91112501)" []	562760	\N	\N	EFO	2	EFO	cell line	CFPAC-1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006551	"human ductal pancreatic adenocarcinoma derived by differential trypsinisation of explant cultures from a metastatic lesion in the liver of a 26 year old caucasian male with cystic fibrosis (Sigma catalog number 91112501)" []	562761	\N	\N	EFO	2	EFO	cell line	CFPAC-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006551	"human ductal pancreatic adenocarcinoma derived by differential trypsinisation of explant cultures from a metastatic lesion in the liver of a 26 year old caucasian male with cystic fibrosis (Sigma catalog number 91112501)" []	562762	\N	\N	EFO	2	EFO	cell line	CFPAC-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006551	"human ductal pancreatic adenocarcinoma derived by differential trypsinisation of explant cultures from a metastatic lesion in the liver of a 26 year old caucasian male with cystic fibrosis (Sigma catalog number 91112501)" []	1144178	\N	\N	EFO	3	EFO	material entity	CFPAC-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006551	"human ductal pancreatic adenocarcinoma derived by differential trypsinisation of explant cultures from a metastatic lesion in the liver of a 26 year old caucasian male with cystic fibrosis (Sigma catalog number 91112501)" []	2026797	\N	\N	EFO	4	EFO	experimental factor	CFPAC-1
EFO:0006552	\N	\N	"human myeloma cell line derived from a peritoneal effusion of a patient with refractory myeloma" []	EFO:0006552	"human myeloma cell line derived from a peritoneal effusion of a patient with refractory myeloma" []	67828	\N	\N	EFO	0	EFO	CMA-03	CMA-03
EFO:0001639	EFO:0006552	\N	"" []	EFO:0006552	"human myeloma cell line derived from a peritoneal effusion of a patient with refractory myeloma" []	209584	\N	\N	EFO	1	EFO	cancer cell line	CMA-03
EFO:0002888	EFO:0006552	\N	"" []	EFO:0006552	"human myeloma cell line derived from a peritoneal effusion of a patient with refractory myeloma" []	209585	\N	\N	EFO	1	EFO	Homo sapiens cell line	CMA-03
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006552	"human myeloma cell line derived from a peritoneal effusion of a patient with refractory myeloma" []	562763	\N	\N	EFO	2	EFO	cell line	CMA-03
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006552	"human myeloma cell line derived from a peritoneal effusion of a patient with refractory myeloma" []	562764	\N	\N	EFO	2	EFO	cell line	CMA-03
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006552	"human myeloma cell line derived from a peritoneal effusion of a patient with refractory myeloma" []	1144179	\N	\N	EFO	3	EFO	material entity	CMA-03
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006552	"human myeloma cell line derived from a peritoneal effusion of a patient with refractory myeloma" []	2026798	\N	\N	EFO	4	EFO	experimental factor	CMA-03
EFO:0006553	\N	\N	"human myeloma cell line derived from CMA03" []	EFO:0006553	"human myeloma cell line derived from CMA03" []	67829	\N	\N	EFO	0	EFO	CMA-03/06	CMA-03/06
EFO:0002888	EFO:0006553	\N	"" []	EFO:0006553	"human myeloma cell line derived from CMA03" []	209586	\N	\N	EFO	1	EFO	Homo sapiens cell line	CMA-03/06
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006553	"human myeloma cell line derived from CMA03" []	562765	\N	\N	EFO	2	EFO	cell line	CMA-03/06
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006553	"human myeloma cell line derived from CMA03" []	1144180	\N	\N	EFO	3	EFO	material entity	CMA-03/06
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006553	"human myeloma cell line derived from CMA03" []	2026799	\N	\N	EFO	4	EFO	experimental factor	CMA-03/06
EFO:0006554	\N	\N	"human colon adenocarcinoma cell line established from the ascites fluid obtained from a 70-year-old male patient with adenocarcinoma of the colon (Sigma catalog number 93052620)" []	EFO:0006554	"human colon adenocarcinoma cell line established from the ascites fluid obtained from a 70-year-old male patient with adenocarcinoma of the colon (Sigma catalog number 93052620)" []	67830	\N	\N	EFO	0	EFO	COLO 206F	COLO 206F
EFO:0001639	EFO:0006554	\N	"" []	EFO:0006554	"human colon adenocarcinoma cell line established from the ascites fluid obtained from a 70-year-old male patient with adenocarcinoma of the colon (Sigma catalog number 93052620)" []	209587	\N	\N	EFO	1	EFO	cancer cell line	COLO 206F
EFO:0002888	EFO:0006554	\N	"" []	EFO:0006554	"human colon adenocarcinoma cell line established from the ascites fluid obtained from a 70-year-old male patient with adenocarcinoma of the colon (Sigma catalog number 93052620)" []	209588	\N	\N	EFO	1	EFO	Homo sapiens cell line	COLO 206F
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006554	"human colon adenocarcinoma cell line established from the ascites fluid obtained from a 70-year-old male patient with adenocarcinoma of the colon (Sigma catalog number 93052620)" []	562766	\N	\N	EFO	2	EFO	cell line	COLO 206F
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006554	"human colon adenocarcinoma cell line established from the ascites fluid obtained from a 70-year-old male patient with adenocarcinoma of the colon (Sigma catalog number 93052620)" []	562767	\N	\N	EFO	2	EFO	cell line	COLO 206F
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006554	"human colon adenocarcinoma cell line established from the ascites fluid obtained from a 70-year-old male patient with adenocarcinoma of the colon (Sigma catalog number 93052620)" []	1144181	\N	\N	EFO	3	EFO	material entity	COLO 206F
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006554	"human colon adenocarcinoma cell line established from the ascites fluid obtained from a 70-year-old male patient with adenocarcinoma of the colon (Sigma catalog number 93052620)" []	2026800	\N	\N	EFO	4	EFO	experimental factor	COLO 206F
EFO:0006555	\N	\N	"human large cell lung cancer bone marrow aspirate derived cell line established from a female patient (Sigma catalog number 96020740)" []	EFO:0006555	"human large cell lung cancer bone marrow aspirate derived cell line established from a female patient (Sigma catalog number 96020740)" []	67831	\N	\N	EFO	0	EFO	COR-L26	COR-L26
EFO:0002888	EFO:0006555	\N	"" []	EFO:0006555	"human large cell lung cancer bone marrow aspirate derived cell line established from a female patient (Sigma catalog number 96020740)" []	209589	\N	\N	EFO	1	EFO	Homo sapiens cell line	COR-L26
EFO:0002934	EFO:0006555	\N	"" []	EFO:0006555	"human large cell lung cancer bone marrow aspirate derived cell line established from a female patient (Sigma catalog number 96020740)" []	209590	\N	\N	EFO	1	EFO	lung cancer cell line	COR-L26
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006555	"human large cell lung cancer bone marrow aspirate derived cell line established from a female patient (Sigma catalog number 96020740)" []	562768	\N	\N	EFO	2	EFO	cell line	COR-L26
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006555	"human large cell lung cancer bone marrow aspirate derived cell line established from a female patient (Sigma catalog number 96020740)" []	562769	\N	\N	EFO	2	EFO	cancer cell line	COR-L26
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006555	"human large cell lung cancer bone marrow aspirate derived cell line established from a female patient (Sigma catalog number 96020740)" []	2026802	\N	\N	EFO	4	EFO	material entity	COR-L26
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006555	"human large cell lung cancer bone marrow aspirate derived cell line established from a female patient (Sigma catalog number 96020740)" []	1144183	\N	\N	EFO	3	EFO	cell line	COR-L26
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006555	"human large cell lung cancer bone marrow aspirate derived cell line established from a female patient (Sigma catalog number 96020740)" []	2999706	\N	\N	EFO	5	EFO	experimental factor	COR-L26
EFO:0006556	\N	\N	"human lung cancer cell line derived from the bone marrow aspirate of a 67-year-old Caucasian male suffering from small cell lung carcinoma (Sigma catalog number 92031915)" []	EFO:0006556	"human lung cancer cell line derived from the bone marrow aspirate of a 67-year-old Caucasian male suffering from small cell lung carcinoma (Sigma catalog number 92031915)" []	67832	\N	\N	EFO	0	EFO	COR-L47	COR-L47
EFO:0002888	EFO:0006556	\N	"" []	EFO:0006556	"human lung cancer cell line derived from the bone marrow aspirate of a 67-year-old Caucasian male suffering from small cell lung carcinoma (Sigma catalog number 92031915)" []	209591	\N	\N	EFO	1	EFO	Homo sapiens cell line	COR-L47
EFO:0002934	EFO:0006556	\N	"" []	EFO:0006556	"human lung cancer cell line derived from the bone marrow aspirate of a 67-year-old Caucasian male suffering from small cell lung carcinoma (Sigma catalog number 92031915)" []	209592	\N	\N	EFO	1	EFO	lung cancer cell line	COR-L47
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006556	"human lung cancer cell line derived from the bone marrow aspirate of a 67-year-old Caucasian male suffering from small cell lung carcinoma (Sigma catalog number 92031915)" []	562770	\N	\N	EFO	2	EFO	cell line	COR-L47
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006556	"human lung cancer cell line derived from the bone marrow aspirate of a 67-year-old Caucasian male suffering from small cell lung carcinoma (Sigma catalog number 92031915)" []	562771	\N	\N	EFO	2	EFO	cancer cell line	COR-L47
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006556	"human lung cancer cell line derived from the bone marrow aspirate of a 67-year-old Caucasian male suffering from small cell lung carcinoma (Sigma catalog number 92031915)" []	2026804	\N	\N	EFO	4	EFO	material entity	COR-L47
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006556	"human lung cancer cell line derived from the bone marrow aspirate of a 67-year-old Caucasian male suffering from small cell lung carcinoma (Sigma catalog number 92031915)" []	1144185	\N	\N	EFO	3	EFO	cell line	COR-L47
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006556	"human lung cancer cell line derived from the bone marrow aspirate of a 67-year-old Caucasian male suffering from small cell lung carcinoma (Sigma catalog number 92031915)" []	2999707	\N	\N	EFO	5	EFO	experimental factor	COR-L47
EFO:0006557	\N	\N	"human ovarian epithelial-serous carcinoma cell line established from a metastasis of the sigmoid colon (Sigma catalog number 07071905)" []	EFO:0006557	"human ovarian epithelial-serous carcinoma cell line established from a metastasis of the sigmoid colon (Sigma catalog number 07071905)" []	67833	\N	\N	EFO	0	EFO	COV413A	COV413A
EFO:0001641	EFO:0006557	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006557	"human ovarian epithelial-serous carcinoma cell line established from a metastasis of the sigmoid colon (Sigma catalog number 07071905)" []	209593	\N	\N	EFO	1	EFO	epithelial cell derived cell line	COV413A
EFO:0002394	EFO:0006557	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006557	"human ovarian epithelial-serous carcinoma cell line established from a metastasis of the sigmoid colon (Sigma catalog number 07071905)" []	209594	\N	\N	EFO	1	EFO	ovarian cancer cell lines	COV413A
EFO:0002888	EFO:0006557	\N	"" []	EFO:0006557	"human ovarian epithelial-serous carcinoma cell line established from a metastasis of the sigmoid colon (Sigma catalog number 07071905)" []	209595	\N	\N	EFO	1	EFO	Homo sapiens cell line	COV413A
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006557	"human ovarian epithelial-serous carcinoma cell line established from a metastasis of the sigmoid colon (Sigma catalog number 07071905)" []	562772	\N	\N	EFO	2	EFO	cell line	COV413A
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006557	"human ovarian epithelial-serous carcinoma cell line established from a metastasis of the sigmoid colon (Sigma catalog number 07071905)" []	562773	\N	\N	EFO	2	EFO	cancer cell line	COV413A
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006557	"human ovarian epithelial-serous carcinoma cell line established from a metastasis of the sigmoid colon (Sigma catalog number 07071905)" []	562774	\N	\N	EFO	2	EFO	cell line	COV413A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006557	"human ovarian epithelial-serous carcinoma cell line established from a metastasis of the sigmoid colon (Sigma catalog number 07071905)" []	2026806	\N	\N	EFO	4	EFO	material entity	COV413A
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006557	"human ovarian epithelial-serous carcinoma cell line established from a metastasis of the sigmoid colon (Sigma catalog number 07071905)" []	1144187	\N	\N	EFO	3	EFO	cell line	COV413A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006557	"human ovarian epithelial-serous carcinoma cell line established from a metastasis of the sigmoid colon (Sigma catalog number 07071905)" []	2999708	\N	\N	EFO	5	EFO	experimental factor	COV413A
EFO:0006558	\N	\N	"human ovarian epithelial-serous carcinoma cell line established from an intraperitoneal metastasis of the bladder dome (Sigma catalog number 07071906)" []	EFO:0006558	"human ovarian epithelial-serous carcinoma cell line established from an intraperitoneal metastasis of the bladder dome (Sigma catalog number 07071906)" []	67834	\N	\N	EFO	0	EFO	COV413B	COV413B
EFO:0001641	EFO:0006558	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006558	"human ovarian epithelial-serous carcinoma cell line established from an intraperitoneal metastasis of the bladder dome (Sigma catalog number 07071906)" []	209596	\N	\N	EFO	1	EFO	epithelial cell derived cell line	COV413B
EFO:0002394	EFO:0006558	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006558	"human ovarian epithelial-serous carcinoma cell line established from an intraperitoneal metastasis of the bladder dome (Sigma catalog number 07071906)" []	209597	\N	\N	EFO	1	EFO	ovarian cancer cell lines	COV413B
EFO:0002888	EFO:0006558	\N	"" []	EFO:0006558	"human ovarian epithelial-serous carcinoma cell line established from an intraperitoneal metastasis of the bladder dome (Sigma catalog number 07071906)" []	209598	\N	\N	EFO	1	EFO	Homo sapiens cell line	COV413B
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006558	"human ovarian epithelial-serous carcinoma cell line established from an intraperitoneal metastasis of the bladder dome (Sigma catalog number 07071906)" []	562775	\N	\N	EFO	2	EFO	cell line	COV413B
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006558	"human ovarian epithelial-serous carcinoma cell line established from an intraperitoneal metastasis of the bladder dome (Sigma catalog number 07071906)" []	562776	\N	\N	EFO	2	EFO	cancer cell line	COV413B
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006558	"human ovarian epithelial-serous carcinoma cell line established from an intraperitoneal metastasis of the bladder dome (Sigma catalog number 07071906)" []	562777	\N	\N	EFO	2	EFO	cell line	COV413B
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006558	"human ovarian epithelial-serous carcinoma cell line established from an intraperitoneal metastasis of the bladder dome (Sigma catalog number 07071906)" []	2026808	\N	\N	EFO	4	EFO	material entity	COV413B
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006558	"human ovarian epithelial-serous carcinoma cell line established from an intraperitoneal metastasis of the bladder dome (Sigma catalog number 07071906)" []	1144189	\N	\N	EFO	3	EFO	cell line	COV413B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006558	"human ovarian epithelial-serous carcinoma cell line established from an intraperitoneal metastasis of the bladder dome (Sigma catalog number 07071906)" []	2999709	\N	\N	EFO	5	EFO	experimental factor	COV413B
EFO:0006559	\N	\N	"human small lung carcinoma cell line established from the pleural effusion metastasis of a patient with small cell lung carcinoma in 1987 (DSMZ catalog number ACC 306)" []	EFO:0006559	"human small lung carcinoma cell line established from the pleural effusion metastasis of a patient with small cell lung carcinoma in 1987 (DSMZ catalog number ACC 306)" []	67835	\N	\N	EFO	0	EFO	CPC-N	CPC-N
EFO:0002888	EFO:0006559	\N	"" []	EFO:0006559	"human small lung carcinoma cell line established from the pleural effusion metastasis of a patient with small cell lung carcinoma in 1987 (DSMZ catalog number ACC 306)" []	209599	\N	\N	EFO	1	EFO	Homo sapiens cell line	CPC-N
EFO:0002934	EFO:0006559	\N	"" []	EFO:0006559	"human small lung carcinoma cell line established from the pleural effusion metastasis of a patient with small cell lung carcinoma in 1987 (DSMZ catalog number ACC 306)" []	209600	\N	\N	EFO	1	EFO	lung cancer cell line	CPC-N
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006559	"human small lung carcinoma cell line established from the pleural effusion metastasis of a patient with small cell lung carcinoma in 1987 (DSMZ catalog number ACC 306)" []	562778	\N	\N	EFO	2	EFO	cell line	CPC-N
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006559	"human small lung carcinoma cell line established from the pleural effusion metastasis of a patient with small cell lung carcinoma in 1987 (DSMZ catalog number ACC 306)" []	562779	\N	\N	EFO	2	EFO	cancer cell line	CPC-N
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006559	"human small lung carcinoma cell line established from the pleural effusion metastasis of a patient with small cell lung carcinoma in 1987 (DSMZ catalog number ACC 306)" []	2026810	\N	\N	EFO	4	EFO	material entity	CPC-N
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006559	"human small lung carcinoma cell line established from the pleural effusion metastasis of a patient with small cell lung carcinoma in 1987 (DSMZ catalog number ACC 306)" []	1144191	\N	\N	EFO	3	EFO	cell line	CPC-N
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006559	"human small lung carcinoma cell line established from the pleural effusion metastasis of a patient with small cell lung carcinoma in 1987 (DSMZ catalog number ACC 306)" []	2999710	\N	\N	EFO	5	EFO	experimental factor	CPC-N
EFO:0006560	\N	\N	"human colon carcinoma cell line" []	EFO:0006560	"human colon carcinoma cell line" []	67836	\N	\N	EFO	0	EFO	CW-2	CW-2
BTO:0000797	\N	\N	"" []	EFO:0006560	"human colon carcinoma cell line" []	194792	\N	\N	EFO	0	EFO	colonic cancer cell line	CW-2
EFO:0001639	EFO:0006560	\N	"" []	EFO:0006560	"human colon carcinoma cell line" []	209601	\N	\N	EFO	1	EFO	cancer cell line	CW-2
EFO:0002888	EFO:0006560	\N	"" []	EFO:0006560	"human colon carcinoma cell line" []	209602	\N	\N	EFO	1	EFO	Homo sapiens cell line	CW-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006560	"human colon carcinoma cell line" []	562780	\N	\N	EFO	2	EFO	cell line	CW-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006560	"human colon carcinoma cell line" []	562781	\N	\N	EFO	2	EFO	cell line	CW-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006560	"human colon carcinoma cell line" []	1144192	\N	\N	EFO	3	EFO	material entity	CW-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006560	"human colon carcinoma cell line" []	2026811	\N	\N	EFO	4	EFO	experimental factor	CW-2
EFO:0006561	\N	\N	"human colon adenocarcinoma cell line established from the tumor tissue of a 44-year-old woman with well-differentiated colon adenocarcinoma in 1984 (DSMZ catalog number ACC 129)" []	EFO:0006561	"human colon adenocarcinoma cell line established from the tumor tissue of a 44-year-old woman with well-differentiated colon adenocarcinoma in 1984 (DSMZ catalog number ACC 129)" []	67837	\N	\N	EFO	0	EFO	CX-1	CX-1
BTO:0000797	\N	\N	"" []	EFO:0006561	"human colon adenocarcinoma cell line established from the tumor tissue of a 44-year-old woman with well-differentiated colon adenocarcinoma in 1984 (DSMZ catalog number ACC 129)" []	194793	\N	\N	EFO	0	EFO	colonic cancer cell line	CX-1
EFO:0001639	EFO:0006561	\N	"" []	EFO:0006561	"human colon adenocarcinoma cell line established from the tumor tissue of a 44-year-old woman with well-differentiated colon adenocarcinoma in 1984 (DSMZ catalog number ACC 129)" []	209603	\N	\N	EFO	1	EFO	cancer cell line	CX-1
EFO:0002888	EFO:0006561	\N	"" []	EFO:0006561	"human colon adenocarcinoma cell line established from the tumor tissue of a 44-year-old woman with well-differentiated colon adenocarcinoma in 1984 (DSMZ catalog number ACC 129)" []	209604	\N	\N	EFO	1	EFO	Homo sapiens cell line	CX-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006561	"human colon adenocarcinoma cell line established from the tumor tissue of a 44-year-old woman with well-differentiated colon adenocarcinoma in 1984 (DSMZ catalog number ACC 129)" []	562782	\N	\N	EFO	2	EFO	cell line	CX-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006561	"human colon adenocarcinoma cell line established from the tumor tissue of a 44-year-old woman with well-differentiated colon adenocarcinoma in 1984 (DSMZ catalog number ACC 129)" []	562783	\N	\N	EFO	2	EFO	cell line	CX-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006561	"human colon adenocarcinoma cell line established from the tumor tissue of a 44-year-old woman with well-differentiated colon adenocarcinoma in 1984 (DSMZ catalog number ACC 129)" []	1144193	\N	\N	EFO	3	EFO	material entity	CX-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006561	"human colon adenocarcinoma cell line established from the tumor tissue of a 44-year-old woman with well-differentiated colon adenocarcinoma in 1984 (DSMZ catalog number ACC 129)" []	2026812	\N	\N	EFO	4	EFO	experimental factor	CX-1
EFO:0006562	\N	\N	"human pancreas carcinoma cell line established from a human individual with pancreas carcinoma in 1985 (DSMZ catalog number ACC 249)" []	EFO:0006562	"human pancreas carcinoma cell line established from a human individual with pancreas carcinoma in 1985 (DSMZ catalog number ACC 249)" []	67838	\N	\N	EFO	0	EFO	DAN-G	DAN-G
EFO:0001639	EFO:0006562	\N	"" []	EFO:0006562	"human pancreas carcinoma cell line established from a human individual with pancreas carcinoma in 1985 (DSMZ catalog number ACC 249)" []	209605	\N	\N	EFO	1	EFO	cancer cell line	DAN-G
EFO:0002888	EFO:0006562	\N	"" []	EFO:0006562	"human pancreas carcinoma cell line established from a human individual with pancreas carcinoma in 1985 (DSMZ catalog number ACC 249)" []	209606	\N	\N	EFO	1	EFO	Homo sapiens cell line	DAN-G
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006562	"human pancreas carcinoma cell line established from a human individual with pancreas carcinoma in 1985 (DSMZ catalog number ACC 249)" []	562784	\N	\N	EFO	2	EFO	cell line	DAN-G
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006562	"human pancreas carcinoma cell line established from a human individual with pancreas carcinoma in 1985 (DSMZ catalog number ACC 249)" []	562785	\N	\N	EFO	2	EFO	cell line	DAN-G
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006562	"human pancreas carcinoma cell line established from a human individual with pancreas carcinoma in 1985 (DSMZ catalog number ACC 249)" []	1144194	\N	\N	EFO	3	EFO	material entity	DAN-G
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006562	"human pancreas carcinoma cell line established from a human individual with pancreas carcinoma in 1985 (DSMZ catalog number ACC 249)" []	2026813	\N	\N	EFO	4	EFO	experimental factor	DAN-G
EFO:0006563	\N	\N	"human malignant melanoma cell line established from the heel lesion of a 59-year-old Japanese man" []	EFO:0006563	"human malignant melanoma cell line established from the heel lesion of a 59-year-old Japanese man" []	67839	\N	\N	EFO	0	EFO	DEOC-1	DEOC-1
BTO:0000849	EFO:0006563	\N	"" []	EFO:0006563	"human malignant melanoma cell line established from the heel lesion of a 59-year-old Japanese man" []	209607	\N	\N	EFO	1	EFO	melanoma cell line	DEOC-1
EFO:0001641	EFO:0006563	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006563	"human malignant melanoma cell line established from the heel lesion of a 59-year-old Japanese man" []	209608	\N	\N	EFO	1	EFO	epithelial cell derived cell line	DEOC-1
EFO:0002888	EFO:0006563	\N	"" []	EFO:0006563	"human malignant melanoma cell line established from the heel lesion of a 59-year-old Japanese man" []	209609	\N	\N	EFO	1	EFO	Homo sapiens cell line	DEOC-1
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006563	"human malignant melanoma cell line established from the heel lesion of a 59-year-old Japanese man" []	562786	\N	\N	EFO	2	EFO	cancer cell line	DEOC-1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006563	"human malignant melanoma cell line established from the heel lesion of a 59-year-old Japanese man" []	562787	\N	\N	EFO	2	EFO	cell line	DEOC-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006563	"human malignant melanoma cell line established from the heel lesion of a 59-year-old Japanese man" []	562788	\N	\N	EFO	2	EFO	cell line	DEOC-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006563	"human malignant melanoma cell line established from the heel lesion of a 59-year-old Japanese man" []	1144195	\N	\N	EFO	3	EFO	cell line	DEOC-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006563	"human malignant melanoma cell line established from the heel lesion of a 59-year-old Japanese man" []	2026814	\N	\N	EFO	4	EFO	material entity	DEOC-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006563	"human malignant melanoma cell line established from the heel lesion of a 59-year-old Japanese man" []	2999711	\N	\N	EFO	5	EFO	experimental factor	DEOC-1
EFO:0006564	\N	\N	"human dysplastic oral keratinocyte cell line isolated from a piece of dorsal tongue from a 57 year old Caucasian man (Sigma catalog number 94122104)" []	EFO:0006564	"human dysplastic oral keratinocyte cell line isolated from a piece of dorsal tongue from a 57 year old Caucasian man (Sigma catalog number 94122104)" []	67840	\N	\N	EFO	0	EFO	DOK	DOK
EFO:0001641	EFO:0006564	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006564	"human dysplastic oral keratinocyte cell line isolated from a piece of dorsal tongue from a 57 year old Caucasian man (Sigma catalog number 94122104)" []	209610	\N	\N	EFO	1	EFO	epithelial cell derived cell line	DOK
EFO:0002888	EFO:0006564	\N	"" []	EFO:0006564	"human dysplastic oral keratinocyte cell line isolated from a piece of dorsal tongue from a 57 year old Caucasian man (Sigma catalog number 94122104)" []	209611	\N	\N	EFO	1	EFO	Homo sapiens cell line	DOK
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006564	"human dysplastic oral keratinocyte cell line isolated from a piece of dorsal tongue from a 57 year old Caucasian man (Sigma catalog number 94122104)" []	562789	\N	\N	EFO	2	EFO	cell line	DOK
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006564	"human dysplastic oral keratinocyte cell line isolated from a piece of dorsal tongue from a 57 year old Caucasian man (Sigma catalog number 94122104)" []	562790	\N	\N	EFO	2	EFO	cell line	DOK
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006564	"human dysplastic oral keratinocyte cell line isolated from a piece of dorsal tongue from a 57 year old Caucasian man (Sigma catalog number 94122104)" []	1144197	\N	\N	EFO	3	EFO	material entity	DOK
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006564	"human dysplastic oral keratinocyte cell line isolated from a piece of dorsal tongue from a 57 year old Caucasian man (Sigma catalog number 94122104)" []	2026816	\N	\N	EFO	4	EFO	experimental factor	DOK
EFO:0006565	\N	\N	"human lung adenocarcinoma established from the pleural effusion of a stage IV lung adenocarcinoma" []	EFO:0006565	"human lung adenocarcinoma established from the pleural effusion of a stage IV lung adenocarcinoma" []	67841	\N	\N	EFO	0	EFO	DV-90	DV-90
EFO:0002888	EFO:0006565	\N	"" []	EFO:0006565	"human lung adenocarcinoma established from the pleural effusion of a stage IV lung adenocarcinoma" []	209612	\N	\N	EFO	1	EFO	Homo sapiens cell line	DV-90
EFO:0002934	EFO:0006565	\N	"" []	EFO:0006565	"human lung adenocarcinoma established from the pleural effusion of a stage IV lung adenocarcinoma" []	209613	\N	\N	EFO	1	EFO	lung cancer cell line	DV-90
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006565	"human lung adenocarcinoma established from the pleural effusion of a stage IV lung adenocarcinoma" []	562791	\N	\N	EFO	2	EFO	cell line	DV-90
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006565	"human lung adenocarcinoma established from the pleural effusion of a stage IV lung adenocarcinoma" []	562792	\N	\N	EFO	2	EFO	cancer cell line	DV-90
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006565	"human lung adenocarcinoma established from the pleural effusion of a stage IV lung adenocarcinoma" []	2026818	\N	\N	EFO	4	EFO	material entity	DV-90
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006565	"human lung adenocarcinoma established from the pleural effusion of a stage IV lung adenocarcinoma" []	1144199	\N	\N	EFO	3	EFO	cell line	DV-90
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006565	"human lung adenocarcinoma established from the pleural effusion of a stage IV lung adenocarcinoma" []	2999712	\N	\N	EFO	5	EFO	experimental factor	DV-90
EFO:0006566	\N	\N	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	67842	\N	\N	EFO	0	EFO	dysplastic oral keratinocyte	dysplastic oral keratinocyte
EFO:0004199	EFO:0006566	\N	"Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	209614	\N	\N	EFO	1	EFO	dysplastic nevus	dysplastic oral keratinocyte
EFO:0005950	EFO:0006566	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	209615	\N	\N	EFO	1	EFO	head and neck neoplasia	dysplastic oral keratinocyte
EFO:0006858	EFO:0006566	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	209616	\N	\N	EFO	1	EFO	epithelial neoplasm	dysplastic oral keratinocyte
EFO:0004198	EFO:0004199	\N	"Tumors or cancer of the SKIN." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	562793	\N	\N	EFO	2	EFO	skin neoplasm	dysplastic oral keratinocyte
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	562794	\N	\N	EFO	2	EFO	head disease	dysplastic oral keratinocyte
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	562795	\N	\N	EFO	2	EFO	neoplasm	dysplastic oral keratinocyte
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	562796	\N	\N	EFO	2	EFO	neoplasm	dysplastic oral keratinocyte
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	1144200	\N	\N	EFO	3	EFO	neoplasm	dysplastic oral keratinocyte
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	1144201	\N	\N	EFO	3	EFO	skin disease	dysplastic oral keratinocyte
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	1144202	\N	\N	EFO	3	EFO	disease	dysplastic oral keratinocyte
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	2026819	\N	\N	EFO	4	EFO	disease	dysplastic oral keratinocyte
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	2026820	\N	\N	EFO	4	EFO	disease	dysplastic oral keratinocyte
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	2999713	\N	\N	EFO	5	EFO	disposition	dysplastic oral keratinocyte
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	4132694	\N	\N	EFO	6	EFO	material property	dysplastic oral keratinocyte
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006566	"Premalignant or precancerous (also referred to as potentially malignant) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take." []	5181016	\N	\N	EFO	7	EFO	experimental factor	dysplastic oral keratinocyte
EFO:0006568	\N	\N	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 311)" []	EFO:0006568	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 311)" []	67843	\N	\N	EFO	0	EFO	EFM-192A	EFM-192A
EFO:0001641	EFO:0006568	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006568	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 311)" []	209617	\N	\N	EFO	1	EFO	epithelial cell derived cell line	EFM-192A
EFO:0002885	EFO:0006568	\N	"" []	EFO:0006568	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 311)" []	209618	\N	\N	EFO	1	EFO	breast cancer cell line	EFM-192A
EFO:0002888	EFO:0006568	\N	"" []	EFO:0006568	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 311)" []	209619	\N	\N	EFO	1	EFO	Homo sapiens cell line	EFM-192A
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006568	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 311)" []	562797	\N	\N	EFO	2	EFO	cell line	EFM-192A
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006568	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 311)" []	562798	\N	\N	EFO	2	EFO	cancer cell line	EFM-192A
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006568	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 311)" []	562799	\N	\N	EFO	2	EFO	cell line	EFM-192A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006568	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 311)" []	2026823	\N	\N	EFO	4	EFO	material entity	EFM-192A
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006568	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 311)" []	1144205	\N	\N	EFO	3	EFO	cell line	EFM-192A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006568	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 311)" []	2999714	\N	\N	EFO	5	EFO	experimental factor	EFM-192A
EFO:0006569	\N	\N	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" []	EFO:0006569	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" []	67844	\N	\N	EFO	0	EFO	EFM-192B	EFM-192B
EFO:0001641	EFO:0006569	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006569	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" []	209620	\N	\N	EFO	1	EFO	epithelial cell derived cell line	EFM-192B
EFO:0002885	EFO:0006569	\N	"" []	EFO:0006569	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" []	209621	\N	\N	EFO	1	EFO	breast cancer cell line	EFM-192B
EFO:0002888	EFO:0006569	\N	"" []	EFO:0006569	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" []	209622	\N	\N	EFO	1	EFO	Homo sapiens cell line	EFM-192B
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006569	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" []	562800	\N	\N	EFO	2	EFO	cell line	EFM-192B
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006569	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" []	562801	\N	\N	EFO	2	EFO	cancer cell line	EFM-192B
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006569	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" []	562802	\N	\N	EFO	2	EFO	cell line	EFM-192B
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006569	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" []	2026825	\N	\N	EFO	4	EFO	material entity	EFM-192B
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006569	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" []	1144207	\N	\N	EFO	3	EFO	cell line	EFM-192B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006569	"human breast carcinoma cell line established from the pleural effusion of the left side (14 days after EFM-192A) of a 46-year-old Caucasian woman with breast adenocarcinoma (DSMZ catalog number ACC 308)" []	2999715	\N	\N	EFO	5	EFO	experimental factor	EFM-192B
EFO:0006570	\N	\N	"human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" []	EFO:0006570	"human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" []	67845	\N	\N	EFO	0	EFO	EFM-192C	EFM-192C
EFO:0001641	EFO:0006570	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006570	"human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" []	209623	\N	\N	EFO	1	EFO	epithelial cell derived cell line	EFM-192C
EFO:0002885	EFO:0006570	\N	"" []	EFO:0006570	"human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" []	209624	\N	\N	EFO	1	EFO	breast cancer cell line	EFM-192C
EFO:0002888	EFO:0006570	\N	"" []	EFO:0006570	"human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" []	209625	\N	\N	EFO	1	EFO	Homo sapiens cell line	EFM-192C
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006570	"human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" []	562803	\N	\N	EFO	2	EFO	cell line	EFM-192C
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006570	"human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" []	562804	\N	\N	EFO	2	EFO	cancer cell line	EFM-192C
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006570	"human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" []	562805	\N	\N	EFO	2	EFO	cell line	EFM-192C
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006570	"human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" []	2026827	\N	\N	EFO	4	EFO	material entity	EFM-192C
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006570	"human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" []	1144209	\N	\N	EFO	3	EFO	cell line	EFM-192C
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006570	"human breast carcinoma cell line human breast carcinoma cell line established from the pleural effusion of the left side from a 46-year-old Caucasian woman with metastasizing breast adenocarcinoma in 1985 (DSMZ catalog number ACC 258)" []	2999716	\N	\N	EFO	5	EFO	experimental factor	EFM-192C
EFO:0006571	\N	\N	"human ovarian adenocarcinoma cell line established from the solid omental metastasis of a mucinous papillary adenocarcinoma of the ovary of a 36-year-old woman in 1979 (DSMZ catalog number ACC 191)" []	EFO:0006571	"human ovarian adenocarcinoma cell line established from the solid omental metastasis of a mucinous papillary adenocarcinoma of the ovary of a 36-year-old woman in 1979 (DSMZ catalog number ACC 191)" []	67846	\N	\N	EFO	0	EFO	EFO-27	EFO-27
EFO:0001641	EFO:0006571	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006571	"human ovarian adenocarcinoma cell line established from the solid omental metastasis of a mucinous papillary adenocarcinoma of the ovary of a 36-year-old woman in 1979 (DSMZ catalog number ACC 191)" []	209626	\N	\N	EFO	1	EFO	epithelial cell derived cell line	EFO-27
EFO:0002394	EFO:0006571	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006571	"human ovarian adenocarcinoma cell line established from the solid omental metastasis of a mucinous papillary adenocarcinoma of the ovary of a 36-year-old woman in 1979 (DSMZ catalog number ACC 191)" []	209627	\N	\N	EFO	1	EFO	ovarian cancer cell lines	EFO-27
EFO:0002888	EFO:0006571	\N	"" []	EFO:0006571	"human ovarian adenocarcinoma cell line established from the solid omental metastasis of a mucinous papillary adenocarcinoma of the ovary of a 36-year-old woman in 1979 (DSMZ catalog number ACC 191)" []	209628	\N	\N	EFO	1	EFO	Homo sapiens cell line	EFO-27
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006571	"human ovarian adenocarcinoma cell line established from the solid omental metastasis of a mucinous papillary adenocarcinoma of the ovary of a 36-year-old woman in 1979 (DSMZ catalog number ACC 191)" []	562806	\N	\N	EFO	2	EFO	cell line	EFO-27
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006571	"human ovarian adenocarcinoma cell line established from the solid omental metastasis of a mucinous papillary adenocarcinoma of the ovary of a 36-year-old woman in 1979 (DSMZ catalog number ACC 191)" []	562807	\N	\N	EFO	2	EFO	cancer cell line	EFO-27
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006571	"human ovarian adenocarcinoma cell line established from the solid omental metastasis of a mucinous papillary adenocarcinoma of the ovary of a 36-year-old woman in 1979 (DSMZ catalog number ACC 191)" []	562808	\N	\N	EFO	2	EFO	cell line	EFO-27
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006571	"human ovarian adenocarcinoma cell line established from the solid omental metastasis of a mucinous papillary adenocarcinoma of the ovary of a 36-year-old woman in 1979 (DSMZ catalog number ACC 191)" []	2026829	\N	\N	EFO	4	EFO	material entity	EFO-27
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006571	"human ovarian adenocarcinoma cell line established from the solid omental metastasis of a mucinous papillary adenocarcinoma of the ovary of a 36-year-old woman in 1979 (DSMZ catalog number ACC 191)" []	1144211	\N	\N	EFO	3	EFO	cell line	EFO-27
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006571	"human ovarian adenocarcinoma cell line established from the solid omental metastasis of a mucinous papillary adenocarcinoma of the ovary of a 36-year-old woman in 1979 (DSMZ catalog number ACC 191)" []	2999717	\N	\N	EFO	5	EFO	experimental factor	EFO-27
EFO:0006572	\N	\N	"human multiple myeloma cell line established from the peritoneal fluid of a 58-year-old woman with IgG lambda myeloma in 1988 at her terminal refractory stage (DSMZ catalog number ACC 560)" []	EFO:0006572	"human multiple myeloma cell line established from the peritoneal fluid of a 58-year-old woman with IgG lambda myeloma in 1988 at her terminal refractory stage (DSMZ catalog number ACC 560)" []	67847	\N	\N	EFO	0	EFO	EJM	EJM
EFO:0001639	EFO:0006572	\N	"" []	EFO:0006572	"human multiple myeloma cell line established from the peritoneal fluid of a 58-year-old woman with IgG lambda myeloma in 1988 at her terminal refractory stage (DSMZ catalog number ACC 560)" []	209629	\N	\N	EFO	1	EFO	cancer cell line	EJM
EFO:0002888	EFO:0006572	\N	"" []	EFO:0006572	"human multiple myeloma cell line established from the peritoneal fluid of a 58-year-old woman with IgG lambda myeloma in 1988 at her terminal refractory stage (DSMZ catalog number ACC 560)" []	209630	\N	\N	EFO	1	EFO	Homo sapiens cell line	EJM
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006572	"human multiple myeloma cell line established from the peritoneal fluid of a 58-year-old woman with IgG lambda myeloma in 1988 at her terminal refractory stage (DSMZ catalog number ACC 560)" []	562809	\N	\N	EFO	2	EFO	cell line	EJM
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006572	"human multiple myeloma cell line established from the peritoneal fluid of a 58-year-old woman with IgG lambda myeloma in 1988 at her terminal refractory stage (DSMZ catalog number ACC 560)" []	562810	\N	\N	EFO	2	EFO	cell line	EJM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006572	"human multiple myeloma cell line established from the peritoneal fluid of a 58-year-old woman with IgG lambda myeloma in 1988 at her terminal refractory stage (DSMZ catalog number ACC 560)" []	1144212	\N	\N	EFO	3	EFO	material entity	EJM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006572	"human multiple myeloma cell line established from the peritoneal fluid of a 58-year-old woman with IgG lambda myeloma in 1988 at her terminal refractory stage (DSMZ catalog number ACC 560)" []	2026830	\N	\N	EFO	4	EFO	experimental factor	EJM
EFO:0006573	\N	\N	"human lung adenocarcinoma cell line established from a surgical lung specimen of a 57-year-old Caucasian man who underwent surgery for undifferentiated squamous cell carcinoma of the lung (without having received prior radiation or chemotherapy) in 1986 (DSMZ catalog number ACC 383)" []	EFO:0006573	"human lung adenocarcinoma cell line established from a surgical lung specimen of a 57-year-old Caucasian man who underwent surgery for undifferentiated squamous cell carcinoma of the lung (without having received prior radiation or chemotherapy) in 1986 (DSMZ catalog number ACC 383)" []	67848	\N	\N	EFO	0	EFO	EPLC-272H	EPLC-272H
EFO:0001639	EFO:0006573	\N	"" []	EFO:0006573	"human lung adenocarcinoma cell line established from a surgical lung specimen of a 57-year-old Caucasian man who underwent surgery for undifferentiated squamous cell carcinoma of the lung (without having received prior radiation or chemotherapy) in 1986 (DSMZ catalog number ACC 383)" []	209631	\N	\N	EFO	1	EFO	cancer cell line	EPLC-272H
EFO:0001641	EFO:0006573	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006573	"human lung adenocarcinoma cell line established from a surgical lung specimen of a 57-year-old Caucasian man who underwent surgery for undifferentiated squamous cell carcinoma of the lung (without having received prior radiation or chemotherapy) in 1986 (DSMZ catalog number ACC 383)" []	209632	\N	\N	EFO	1	EFO	epithelial cell derived cell line	EPLC-272H
EFO:0002888	EFO:0006573	\N	"" []	EFO:0006573	"human lung adenocarcinoma cell line established from a surgical lung specimen of a 57-year-old Caucasian man who underwent surgery for undifferentiated squamous cell carcinoma of the lung (without having received prior radiation or chemotherapy) in 1986 (DSMZ catalog number ACC 383)" []	209633	\N	\N	EFO	1	EFO	Homo sapiens cell line	EPLC-272H
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006573	"human lung adenocarcinoma cell line established from a surgical lung specimen of a 57-year-old Caucasian man who underwent surgery for undifferentiated squamous cell carcinoma of the lung (without having received prior radiation or chemotherapy) in 1986 (DSMZ catalog number ACC 383)" []	562811	\N	\N	EFO	2	EFO	cell line	EPLC-272H
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006573	"human lung adenocarcinoma cell line established from a surgical lung specimen of a 57-year-old Caucasian man who underwent surgery for undifferentiated squamous cell carcinoma of the lung (without having received prior radiation or chemotherapy) in 1986 (DSMZ catalog number ACC 383)" []	562812	\N	\N	EFO	2	EFO	cell line	EPLC-272H
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006573	"human lung adenocarcinoma cell line established from a surgical lung specimen of a 57-year-old Caucasian man who underwent surgery for undifferentiated squamous cell carcinoma of the lung (without having received prior radiation or chemotherapy) in 1986 (DSMZ catalog number ACC 383)" []	562813	\N	\N	EFO	2	EFO	cell line	EPLC-272H
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006573	"human lung adenocarcinoma cell line established from a surgical lung specimen of a 57-year-old Caucasian man who underwent surgery for undifferentiated squamous cell carcinoma of the lung (without having received prior radiation or chemotherapy) in 1986 (DSMZ catalog number ACC 383)" []	1144213	\N	\N	EFO	3	EFO	material entity	EPLC-272H
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006573	"human lung adenocarcinoma cell line established from a surgical lung specimen of a 57-year-old Caucasian man who underwent surgery for undifferentiated squamous cell carcinoma of the lung (without having received prior radiation or chemotherapy) in 1986 (DSMZ catalog number ACC 383)" []	2026831	\N	\N	EFO	4	EFO	experimental factor	EPLC-272H
EFO:0006574	\N	\N	"human breast carcinoma cell line established from the malignant ascitic effusion from a woman with metastatic breast carcinoma; described as being estrogen receptor-negative and progesterone receptor-positive (DSMZ catalog number ACC 433)" []	EFO:0006574	"human breast carcinoma cell line established from the malignant ascitic effusion from a woman with metastatic breast carcinoma; described as being estrogen receptor-negative and progesterone receptor-positive (DSMZ catalog number ACC 433)" []	67849	\N	\N	EFO	0	EFO	EVSA-T	EVSA-T
EFO:0001641	EFO:0006574	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006574	"human breast carcinoma cell line established from the malignant ascitic effusion from a woman with metastatic breast carcinoma; described as being estrogen receptor-negative and progesterone receptor-positive (DSMZ catalog number ACC 433)" []	209634	\N	\N	EFO	1	EFO	epithelial cell derived cell line	EVSA-T
EFO:0002885	EFO:0006574	\N	"" []	EFO:0006574	"human breast carcinoma cell line established from the malignant ascitic effusion from a woman with metastatic breast carcinoma; described as being estrogen receptor-negative and progesterone receptor-positive (DSMZ catalog number ACC 433)" []	209635	\N	\N	EFO	1	EFO	breast cancer cell line	EVSA-T
EFO:0002888	EFO:0006574	\N	"" []	EFO:0006574	"human breast carcinoma cell line established from the malignant ascitic effusion from a woman with metastatic breast carcinoma; described as being estrogen receptor-negative and progesterone receptor-positive (DSMZ catalog number ACC 433)" []	209636	\N	\N	EFO	1	EFO	Homo sapiens cell line	EVSA-T
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006574	"human breast carcinoma cell line established from the malignant ascitic effusion from a woman with metastatic breast carcinoma; described as being estrogen receptor-negative and progesterone receptor-positive (DSMZ catalog number ACC 433)" []	562814	\N	\N	EFO	2	EFO	cell line	EVSA-T
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006574	"human breast carcinoma cell line established from the malignant ascitic effusion from a woman with metastatic breast carcinoma; described as being estrogen receptor-negative and progesterone receptor-positive (DSMZ catalog number ACC 433)" []	562815	\N	\N	EFO	2	EFO	cancer cell line	EVSA-T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006574	"human breast carcinoma cell line established from the malignant ascitic effusion from a woman with metastatic breast carcinoma; described as being estrogen receptor-negative and progesterone receptor-positive (DSMZ catalog number ACC 433)" []	562816	\N	\N	EFO	2	EFO	cell line	EVSA-T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006574	"human breast carcinoma cell line established from the malignant ascitic effusion from a woman with metastatic breast carcinoma; described as being estrogen receptor-negative and progesterone receptor-positive (DSMZ catalog number ACC 433)" []	2026833	\N	\N	EFO	4	EFO	material entity	EVSA-T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006574	"human breast carcinoma cell line established from the malignant ascitic effusion from a woman with metastatic breast carcinoma; described as being estrogen receptor-negative and progesterone receptor-positive (DSMZ catalog number ACC 433)" []	1144215	\N	\N	EFO	3	EFO	cell line	EVSA-T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006574	"human breast carcinoma cell line established from the malignant ascitic effusion from a woman with metastatic breast carcinoma; described as being estrogen receptor-negative and progesterone receptor-positive (DSMZ catalog number ACC 433)" []	2999718	\N	\N	EFO	5	EFO	experimental factor	EVSA-T
EFO:0006575	\N	\N	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090714)" []	EFO:0006575	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090714)" []	67850	\N	\N	EFO	0	EFO	GP2d	GP2d
BTO:0003250	\N	\N	"" []	EFO:0006575	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090714)" []	194794	\N	\N	EFO	0	EFO	colonic epithelium cell line	GP2d
EFO:0001639	EFO:0006575	\N	"" []	EFO:0006575	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090714)" []	209637	\N	\N	EFO	1	EFO	cancer cell line	GP2d
EFO:0002888	EFO:0006575	\N	"" []	EFO:0006575	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090714)" []	209638	\N	\N	EFO	1	EFO	Homo sapiens cell line	GP2d
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006575	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090714)" []	562817	\N	\N	EFO	2	EFO	cell line	GP2d
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006575	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090714)" []	562818	\N	\N	EFO	2	EFO	cell line	GP2d
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006575	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090714)" []	1144216	\N	\N	EFO	3	EFO	material entity	GP2d
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006575	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090714)" []	2026834	\N	\N	EFO	4	EFO	experimental factor	GP2d
EFO:0006576	\N	\N	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090715)" []	EFO:0006576	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090715)" []	67851	\N	\N	EFO	0	EFO	GP5d	GP5d
BTO:0003250	\N	\N	"" []	EFO:0006576	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090715)" []	194795	\N	\N	EFO	0	EFO	colonic epithelium cell line	GP5d
EFO:0001639	EFO:0006576	\N	"" []	EFO:0006576	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090715)" []	209639	\N	\N	EFO	1	EFO	cancer cell line	GP5d
EFO:0002888	EFO:0006576	\N	"" []	EFO:0006576	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090715)" []	209640	\N	\N	EFO	1	EFO	Homo sapiens cell line	GP5d
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006576	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090715)" []	562819	\N	\N	EFO	2	EFO	cell line	GP5d
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006576	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090715)" []	562820	\N	\N	EFO	2	EFO	cell line	GP5d
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006576	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090715)" []	1144217	\N	\N	EFO	3	EFO	material entity	GP5d
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006576	"human colon adenocarcinoma cell line derived from a local recurrence of Duke?s grade B, poorly differentiated carcinoma of the colon from a 71 year old female at surgical resection (SIgma catalog number 95090715)" []	2026835	\N	\N	EFO	4	EFO	experimental factor	GP5d
EFO:0006577	\N	\N	"human melanoma obtained from the thorax of a 36 year old male with skin metastases having received no treatment at the time of the biopsy (Sigma catalog number 95032301)" []	EFO:0006577	"human melanoma obtained from the thorax of a 36 year old male with skin metastases having received no treatment at the time of the biopsy (Sigma catalog number 95032301)" []	67852	\N	\N	EFO	0	EFO	GR-M	GR-M
BTO:0000849	EFO:0006577	\N	"" []	EFO:0006577	"human melanoma obtained from the thorax of a 36 year old male with skin metastases having received no treatment at the time of the biopsy (Sigma catalog number 95032301)" []	209641	\N	\N	EFO	1	EFO	melanoma cell line	GR-M
EFO:0001641	EFO:0006577	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006577	"human melanoma obtained from the thorax of a 36 year old male with skin metastases having received no treatment at the time of the biopsy (Sigma catalog number 95032301)" []	209642	\N	\N	EFO	1	EFO	epithelial cell derived cell line	GR-M
EFO:0002888	EFO:0006577	\N	"" []	EFO:0006577	"human melanoma obtained from the thorax of a 36 year old male with skin metastases having received no treatment at the time of the biopsy (Sigma catalog number 95032301)" []	209643	\N	\N	EFO	1	EFO	Homo sapiens cell line	GR-M
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006577	"human melanoma obtained from the thorax of a 36 year old male with skin metastases having received no treatment at the time of the biopsy (Sigma catalog number 95032301)" []	562821	\N	\N	EFO	2	EFO	cancer cell line	GR-M
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006577	"human melanoma obtained from the thorax of a 36 year old male with skin metastases having received no treatment at the time of the biopsy (Sigma catalog number 95032301)" []	562822	\N	\N	EFO	2	EFO	cell line	GR-M
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006577	"human melanoma obtained from the thorax of a 36 year old male with skin metastases having received no treatment at the time of the biopsy (Sigma catalog number 95032301)" []	562823	\N	\N	EFO	2	EFO	cell line	GR-M
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006577	"human melanoma obtained from the thorax of a 36 year old male with skin metastases having received no treatment at the time of the biopsy (Sigma catalog number 95032301)" []	1144218	\N	\N	EFO	3	EFO	cell line	GR-M
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006577	"human melanoma obtained from the thorax of a 36 year old male with skin metastases having received no treatment at the time of the biopsy (Sigma catalog number 95032301)" []	2026836	\N	\N	EFO	4	EFO	material entity	GR-M
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006577	"human melanoma obtained from the thorax of a 36 year old male with skin metastases having received no treatment at the time of the biopsy (Sigma catalog number 95032301)" []	2999719	\N	\N	EFO	5	EFO	experimental factor	GR-M
EFO:0006578	\N	\N	"human gastric carcinoma cell line with amplification of the MET oncogene (Motoyama et al., 1986)" []	EFO:0006578	"human gastric carcinoma cell line with amplification of the MET oncogene (Motoyama et al., 1986)" []	67853	\N	\N	EFO	0	EFO	GTL-16	GTL-16
EFO:0001639	EFO:0006578	\N	"" []	EFO:0006578	"human gastric carcinoma cell line with amplification of the MET oncogene (Motoyama et al., 1986)" []	209644	\N	\N	EFO	1	EFO	cancer cell line	GTL-16
EFO:0002888	EFO:0006578	\N	"" []	EFO:0006578	"human gastric carcinoma cell line with amplification of the MET oncogene (Motoyama et al., 1986)" []	209645	\N	\N	EFO	1	EFO	Homo sapiens cell line	GTL-16
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006578	"human gastric carcinoma cell line with amplification of the MET oncogene (Motoyama et al., 1986)" []	562824	\N	\N	EFO	2	EFO	cell line	GTL-16
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006578	"human gastric carcinoma cell line with amplification of the MET oncogene (Motoyama et al., 1986)" []	562825	\N	\N	EFO	2	EFO	cell line	GTL-16
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006578	"human gastric carcinoma cell line with amplification of the MET oncogene (Motoyama et al., 1986)" []	1144220	\N	\N	EFO	3	EFO	material entity	GTL-16
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006578	"human gastric carcinoma cell line with amplification of the MET oncogene (Motoyama et al., 1986)" []	2026838	\N	\N	EFO	4	EFO	experimental factor	GTL-16
EFO:0006579	\N	\N	"human erythroleukemia cell line derived from peripheral blood of a patient with Hodgkin's disease who later developed erythroleukemia" []	EFO:0006579	"human erythroleukemia cell line derived from peripheral blood of a patient with Hodgkin's disease who later developed erythroleukemia" []	67854	\N	\N	EFO	0	EFO	HEL	HEL
EFO:0002888	EFO:0006579	\N	"" []	EFO:0006579	"human erythroleukemia cell line derived from peripheral blood of a patient with Hodgkin's disease who later developed erythroleukemia" []	209646	\N	\N	EFO	1	EFO	Homo sapiens cell line	HEL
EFO:0002937	EFO:0006579	\N	"" []	EFO:0006579	"human erythroleukemia cell line derived from peripheral blood of a patient with Hodgkin's disease who later developed erythroleukemia" []	209647	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	HEL
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006579	"human erythroleukemia cell line derived from peripheral blood of a patient with Hodgkin's disease who later developed erythroleukemia" []	562826	\N	\N	EFO	2	EFO	cell line	HEL
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006579	"human erythroleukemia cell line derived from peripheral blood of a patient with Hodgkin's disease who later developed erythroleukemia" []	562827	\N	\N	EFO	2	EFO	cancer cell line	HEL
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006579	"human erythroleukemia cell line derived from peripheral blood of a patient with Hodgkin's disease who later developed erythroleukemia" []	2026840	\N	\N	EFO	4	EFO	material entity	HEL
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006579	"human erythroleukemia cell line derived from peripheral blood of a patient with Hodgkin's disease who later developed erythroleukemia" []	1144222	\N	\N	EFO	3	EFO	cell line	HEL
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006579	"human erythroleukemia cell line derived from peripheral blood of a patient with Hodgkin's disease who later developed erythroleukemia" []	2999720	\N	\N	EFO	5	EFO	experimental factor	HEL
EFO:0006580	\N	\N	"human ovarian carcinoma cell line was derived from a human ovarian cancer xenograft (HX-62) originally grown from a peritoneal deposit of a patient with moderately differentiated papillary cystadenocarcinoma of the ovary (catalog number AKR-205)" []	EFO:0006580	"human ovarian carcinoma cell line was derived from a human ovarian cancer xenograft (HX-62) originally grown from a peritoneal deposit of a patient with moderately differentiated papillary cystadenocarcinoma of the ovary (catalog number AKR-205)" []	67855	\N	\N	EFO	0	EFO	HEY	HEY
EFO:0002394	EFO:0006580	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006580	"human ovarian carcinoma cell line was derived from a human ovarian cancer xenograft (HX-62) originally grown from a peritoneal deposit of a patient with moderately differentiated papillary cystadenocarcinoma of the ovary (catalog number AKR-205)" []	209648	\N	\N	EFO	1	EFO	ovarian cancer cell lines	HEY
EFO:0002888	EFO:0006580	\N	"" []	EFO:0006580	"human ovarian carcinoma cell line was derived from a human ovarian cancer xenograft (HX-62) originally grown from a peritoneal deposit of a patient with moderately differentiated papillary cystadenocarcinoma of the ovary (catalog number AKR-205)" []	209649	\N	\N	EFO	1	EFO	Homo sapiens cell line	HEY
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006580	"human ovarian carcinoma cell line was derived from a human ovarian cancer xenograft (HX-62) originally grown from a peritoneal deposit of a patient with moderately differentiated papillary cystadenocarcinoma of the ovary (catalog number AKR-205)" []	562828	\N	\N	EFO	2	EFO	cancer cell line	HEY
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006580	"human ovarian carcinoma cell line was derived from a human ovarian cancer xenograft (HX-62) originally grown from a peritoneal deposit of a patient with moderately differentiated papillary cystadenocarcinoma of the ovary (catalog number AKR-205)" []	562829	\N	\N	EFO	2	EFO	cell line	HEY
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006580	"human ovarian carcinoma cell line was derived from a human ovarian cancer xenograft (HX-62) originally grown from a peritoneal deposit of a patient with moderately differentiated papillary cystadenocarcinoma of the ovary (catalog number AKR-205)" []	1144223	\N	\N	EFO	3	EFO	cell line	HEY
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006580	"human ovarian carcinoma cell line was derived from a human ovarian cancer xenograft (HX-62) originally grown from a peritoneal deposit of a patient with moderately differentiated papillary cystadenocarcinoma of the ovary (catalog number AKR-205)" []	2026841	\N	\N	EFO	4	EFO	material entity	HEY
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006580	"human ovarian carcinoma cell line was derived from a human ovarian cancer xenograft (HX-62) originally grown from a peritoneal deposit of a patient with moderately differentiated papillary cystadenocarcinoma of the ovary (catalog number AKR-205)" []	2999721	\N	\N	EFO	5	EFO	experimental factor	HEY
EFO:0006581	\N	\N	"human gastric carcinoma cell line established by culture of the metastatic lymph node from a gastric cancer patient diagnosed histologically as undifferentiated carcinoma" []	EFO:0006581	"human gastric carcinoma cell line established by culture of the metastatic lymph node from a gastric cancer patient diagnosed histologically as undifferentiated carcinoma" []	67856	\N	\N	EFO	0	EFO	HGC-27	HGC-27
EFO:0001639	EFO:0006581	\N	"" []	EFO:0006581	"human gastric carcinoma cell line established by culture of the metastatic lymph node from a gastric cancer patient diagnosed histologically as undifferentiated carcinoma" []	209650	\N	\N	EFO	1	EFO	cancer cell line	HGC-27
EFO:0001641	EFO:0006581	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006581	"human gastric carcinoma cell line established by culture of the metastatic lymph node from a gastric cancer patient diagnosed histologically as undifferentiated carcinoma" []	209651	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HGC-27
EFO:0002888	EFO:0006581	\N	"" []	EFO:0006581	"human gastric carcinoma cell line established by culture of the metastatic lymph node from a gastric cancer patient diagnosed histologically as undifferentiated carcinoma" []	209652	\N	\N	EFO	1	EFO	Homo sapiens cell line	HGC-27
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006581	"human gastric carcinoma cell line established by culture of the metastatic lymph node from a gastric cancer patient diagnosed histologically as undifferentiated carcinoma" []	562830	\N	\N	EFO	2	EFO	cell line	HGC-27
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006581	"human gastric carcinoma cell line established by culture of the metastatic lymph node from a gastric cancer patient diagnosed histologically as undifferentiated carcinoma" []	562831	\N	\N	EFO	2	EFO	cell line	HGC-27
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006581	"human gastric carcinoma cell line established by culture of the metastatic lymph node from a gastric cancer patient diagnosed histologically as undifferentiated carcinoma" []	562832	\N	\N	EFO	2	EFO	cell line	HGC-27
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006581	"human gastric carcinoma cell line established by culture of the metastatic lymph node from a gastric cancer patient diagnosed histologically as undifferentiated carcinoma" []	1144225	\N	\N	EFO	3	EFO	material entity	HGC-27
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006581	"human gastric carcinoma cell line established by culture of the metastatic lymph node from a gastric cancer patient diagnosed histologically as undifferentiated carcinoma" []	2026843	\N	\N	EFO	4	EFO	experimental factor	HGC-27
EFO:0006582	\N	\N	"human melanoma cell line established from metastasised lymph node of a 62 year old Japanese man" []	EFO:0006582	"human melanoma cell line established from metastasised lymph node of a 62 year old Japanese man" []	67857	\N	\N	EFO	0	EFO	HMY-1	HMY-1
BTO:0000849	EFO:0006582	\N	"" []	EFO:0006582	"human melanoma cell line established from metastasised lymph node of a 62 year old Japanese man" []	209653	\N	\N	EFO	1	EFO	melanoma cell line	HMY-1
EFO:0002888	EFO:0006582	\N	"" []	EFO:0006582	"human melanoma cell line established from metastasised lymph node of a 62 year old Japanese man" []	209654	\N	\N	EFO	1	EFO	Homo sapiens cell line	HMY-1
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006582	"human melanoma cell line established from metastasised lymph node of a 62 year old Japanese man" []	562833	\N	\N	EFO	2	EFO	cancer cell line	HMY-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006582	"human melanoma cell line established from metastasised lymph node of a 62 year old Japanese man" []	562834	\N	\N	EFO	2	EFO	cell line	HMY-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006582	"human melanoma cell line established from metastasised lymph node of a 62 year old Japanese man" []	1144226	\N	\N	EFO	3	EFO	cell line	HMY-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006582	"human melanoma cell line established from metastasised lymph node of a 62 year old Japanese man" []	2026844	\N	\N	EFO	4	EFO	material entity	HMY-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006582	"human melanoma cell line established from metastasised lymph node of a 62 year old Japanese man" []	2999722	\N	\N	EFO	5	EFO	experimental factor	HMY-1
EFO:0006583	\N	\N	"human acute myeloid leukemia cell line established in 1994 from the peripheral blood of a 47-year-old woman with acute myeloid leukemia (AML FAB M4) secondary to previous myelodysplastic syndromes (MDS), specifically chronic myelomonocytic leukemia (CMML) (DSMZ catalog number ACC-600)" []	EFO:0006583	"human acute myeloid leukemia cell line established in 1994 from the peripheral blood of a 47-year-old woman with acute myeloid leukemia (AML FAB M4) secondary to previous myelodysplastic syndromes (MDS), specifically chronic myelomonocytic leukemia (CMML) (DSMZ catalog number ACC-600)" []	67858	\N	\N	EFO	0	EFO	HNT-34	HNT-34
EFO:0002888	EFO:0006583	\N	"" []	EFO:0006583	"human acute myeloid leukemia cell line established in 1994 from the peripheral blood of a 47-year-old woman with acute myeloid leukemia (AML FAB M4) secondary to previous myelodysplastic syndromes (MDS), specifically chronic myelomonocytic leukemia (CMML) (DSMZ catalog number ACC-600)" []	209655	\N	\N	EFO	1	EFO	Homo sapiens cell line	HNT-34
EFO:0002937	EFO:0006583	\N	"" []	EFO:0006583	"human acute myeloid leukemia cell line established in 1994 from the peripheral blood of a 47-year-old woman with acute myeloid leukemia (AML FAB M4) secondary to previous myelodysplastic syndromes (MDS), specifically chronic myelomonocytic leukemia (CMML) (DSMZ catalog number ACC-600)" []	209656	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	HNT-34
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006583	"human acute myeloid leukemia cell line established in 1994 from the peripheral blood of a 47-year-old woman with acute myeloid leukemia (AML FAB M4) secondary to previous myelodysplastic syndromes (MDS), specifically chronic myelomonocytic leukemia (CMML) (DSMZ catalog number ACC-600)" []	562835	\N	\N	EFO	2	EFO	cell line	HNT-34
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006583	"human acute myeloid leukemia cell line established in 1994 from the peripheral blood of a 47-year-old woman with acute myeloid leukemia (AML FAB M4) secondary to previous myelodysplastic syndromes (MDS), specifically chronic myelomonocytic leukemia (CMML) (DSMZ catalog number ACC-600)" []	562836	\N	\N	EFO	2	EFO	cancer cell line	HNT-34
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006583	"human acute myeloid leukemia cell line established in 1994 from the peripheral blood of a 47-year-old woman with acute myeloid leukemia (AML FAB M4) secondary to previous myelodysplastic syndromes (MDS), specifically chronic myelomonocytic leukemia (CMML) (DSMZ catalog number ACC-600)" []	2026847	\N	\N	EFO	4	EFO	material entity	HNT-34
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006583	"human acute myeloid leukemia cell line established in 1994 from the peripheral blood of a 47-year-old woman with acute myeloid leukemia (AML FAB M4) secondary to previous myelodysplastic syndromes (MDS), specifically chronic myelomonocytic leukemia (CMML) (DSMZ catalog number ACC-600)" []	1144229	\N	\N	EFO	3	EFO	cell line	HNT-34
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006583	"human acute myeloid leukemia cell line established in 1994 from the peripheral blood of a 47-year-old woman with acute myeloid leukemia (AML FAB M4) secondary to previous myelodysplastic syndromes (MDS), specifically chronic myelomonocytic leukemia (CMML) (DSMZ catalog number ACC-600)" []	2999723	\N	\N	EFO	5	EFO	experimental factor	HNT-34
EFO:0006584	\N	\N	"human colon adenocarcinoma cell line from a 46 year old Caucasian woman (ATCC CRL-7213)" []	EFO:0006584	"human colon adenocarcinoma cell line from a 46 year old Caucasian woman (ATCC CRL-7213)" []	67859	\N	\N	EFO	0	EFO	Hs 255.T	Hs 255.T
EFO:0001639	EFO:0006584	\N	"" []	EFO:0006584	"human colon adenocarcinoma cell line from a 46 year old Caucasian woman (ATCC CRL-7213)" []	209657	\N	\N	EFO	1	EFO	cancer cell line	Hs 255.T
EFO:0002009	EFO:0006584	\N	"" []	EFO:0006584	"human colon adenocarcinoma cell line from a 46 year old Caucasian woman (ATCC CRL-7213)" []	209658	\N	\N	EFO	1	EFO	fibroblast derived cell line	Hs 255.T
EFO:0002888	EFO:0006584	\N	"" []	EFO:0006584	"human colon adenocarcinoma cell line from a 46 year old Caucasian woman (ATCC CRL-7213)" []	209659	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 255.T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006584	"human colon adenocarcinoma cell line from a 46 year old Caucasian woman (ATCC CRL-7213)" []	562837	\N	\N	EFO	2	EFO	cell line	Hs 255.T
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006584	"human colon adenocarcinoma cell line from a 46 year old Caucasian woman (ATCC CRL-7213)" []	562838	\N	\N	EFO	2	EFO	cell line	Hs 255.T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006584	"human colon adenocarcinoma cell line from a 46 year old Caucasian woman (ATCC CRL-7213)" []	562839	\N	\N	EFO	2	EFO	cell line	Hs 255.T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006584	"human colon adenocarcinoma cell line from a 46 year old Caucasian woman (ATCC CRL-7213)" []	1144230	\N	\N	EFO	3	EFO	material entity	Hs 255.T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006584	"human colon adenocarcinoma cell line from a 46 year old Caucasian woman (ATCC CRL-7213)" []	2026848	\N	\N	EFO	4	EFO	experimental factor	Hs 255.T
EFO:0006585	\N	\N	"human melanoma cell line from a 56 year old Caucasian male (ATCC HTB-140)" []	EFO:0006585	"human melanoma cell line from a 56 year old Caucasian male (ATCC HTB-140)" []	67860	\N	\N	EFO	0	EFO	Hs 294T	Hs 294T
BTO:0000849	EFO:0006585	\N	"" []	EFO:0006585	"human melanoma cell line from a 56 year old Caucasian male (ATCC HTB-140)" []	209660	\N	\N	EFO	1	EFO	melanoma cell line	Hs 294T
EFO:0002888	EFO:0006585	\N	"" []	EFO:0006585	"human melanoma cell line from a 56 year old Caucasian male (ATCC HTB-140)" []	209661	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 294T
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006585	"human melanoma cell line from a 56 year old Caucasian male (ATCC HTB-140)" []	562840	\N	\N	EFO	2	EFO	cancer cell line	Hs 294T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006585	"human melanoma cell line from a 56 year old Caucasian male (ATCC HTB-140)" []	562841	\N	\N	EFO	2	EFO	cell line	Hs 294T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006585	"human melanoma cell line from a 56 year old Caucasian male (ATCC HTB-140)" []	1144231	\N	\N	EFO	3	EFO	cell line	Hs 294T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006585	"human melanoma cell line from a 56 year old Caucasian male (ATCC HTB-140)" []	2026849	\N	\N	EFO	4	EFO	material entity	Hs 294T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006585	"human melanoma cell line from a 56 year old Caucasian male (ATCC HTB-140)" []	2999724	\N	\N	EFO	5	EFO	experimental factor	Hs 294T
EFO:0006586	\N	\N	"human ovarian teratoma cell line from a female (ATCC CRL-7826)" []	EFO:0006586	"human ovarian teratoma cell line from a female (ATCC CRL-7826)" []	67861	\N	\N	EFO	0	EFO	Hs 38.T	Hs 38.T
EFO:0002009	EFO:0006586	\N	"" []	EFO:0006586	"human ovarian teratoma cell line from a female (ATCC CRL-7826)" []	209662	\N	\N	EFO	1	EFO	fibroblast derived cell line	Hs 38.T
EFO:0002888	EFO:0006586	\N	"" []	EFO:0006586	"human ovarian teratoma cell line from a female (ATCC CRL-7826)" []	209663	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 38.T
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006586	"human ovarian teratoma cell line from a female (ATCC CRL-7826)" []	562842	\N	\N	EFO	2	EFO	cell line	Hs 38.T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006586	"human ovarian teratoma cell line from a female (ATCC CRL-7826)" []	562843	\N	\N	EFO	2	EFO	cell line	Hs 38.T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006586	"human ovarian teratoma cell line from a female (ATCC CRL-7826)" []	1144233	\N	\N	EFO	3	EFO	material entity	Hs 38.T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006586	"human ovarian teratoma cell line from a female (ATCC CRL-7826)" []	2026851	\N	\N	EFO	4	EFO	experimental factor	Hs 38.T
EFO:0006587	\N	\N	"human colorectal cancer cell line from a Caucasian male (ATCC CRL-7400)" []	EFO:0006587	"human colorectal cancer cell line from a Caucasian male (ATCC CRL-7400)" []	67862	\N	\N	EFO	0	EFO	Hs 675.T	Hs 675.T
BTO:0001616	\N	\N	"" []	EFO:0006587	"human colorectal cancer cell line from a Caucasian male (ATCC CRL-7400)" []	194796	\N	\N	EFO	0	EFO	colorectal cancer cell line	Hs 675.T
EFO:0002009	EFO:0006587	\N	"" []	EFO:0006587	"human colorectal cancer cell line from a Caucasian male (ATCC CRL-7400)" []	209664	\N	\N	EFO	1	EFO	fibroblast derived cell line	Hs 675.T
EFO:0002888	EFO:0006587	\N	"" []	EFO:0006587	"human colorectal cancer cell line from a Caucasian male (ATCC CRL-7400)" []	209665	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 675.T
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006587	"human colorectal cancer cell line from a Caucasian male (ATCC CRL-7400)" []	562844	\N	\N	EFO	2	EFO	cell line	Hs 675.T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006587	"human colorectal cancer cell line from a Caucasian male (ATCC CRL-7400)" []	562845	\N	\N	EFO	2	EFO	cell line	Hs 675.T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006587	"human colorectal cancer cell line from a Caucasian male (ATCC CRL-7400)" []	1144234	\N	\N	EFO	3	EFO	material entity	Hs 675.T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006587	"human colorectal cancer cell line from a Caucasian male (ATCC CRL-7400)" []	2026852	\N	\N	EFO	4	EFO	experimental factor	Hs 675.T
EFO:0006588	\N	\N	"human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" []	EFO:0006588	"human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" []	67863	\N	\N	EFO	0	EFO	Hs 695T	Hs 695T
BTO:0000849	EFO:0006588	\N	"" []	EFO:0006588	"human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" []	209666	\N	\N	EFO	1	EFO	melanoma cell line	Hs 695T
EFO:0001641	EFO:0006588	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006588	"human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" []	209667	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Hs 695T
EFO:0002888	EFO:0006588	\N	"" []	EFO:0006588	"human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" []	209668	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 695T
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006588	"human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" []	562846	\N	\N	EFO	2	EFO	cancer cell line	Hs 695T
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006588	"human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" []	562847	\N	\N	EFO	2	EFO	cell line	Hs 695T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006588	"human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" []	562848	\N	\N	EFO	2	EFO	cell line	Hs 695T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006588	"human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" []	1144235	\N	\N	EFO	3	EFO	cell line	Hs 695T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006588	"human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" []	2026853	\N	\N	EFO	4	EFO	material entity	Hs 695T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006588	"human melanoma cell line from a 26 year old Caucasian male (ATCC HTB-137)" []	2999725	\N	\N	EFO	5	EFO	experimental factor	Hs 695T
EFO:0006589	\N	\N	"human gastric carcinoma cell line from a 74 year old Caucasian male (ATCC HTB-135)" []	EFO:0006589	"human gastric carcinoma cell line from a 74 year old Caucasian male (ATCC HTB-135)" []	67864	\N	\N	EFO	0	EFO	Hs 746T	Hs 746T
EFO:0001639	EFO:0006589	\N	"" []	EFO:0006589	"human gastric carcinoma cell line from a 74 year old Caucasian male (ATCC HTB-135)" []	209669	\N	\N	EFO	1	EFO	cancer cell line	Hs 746T
EFO:0001641	EFO:0006589	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006589	"human gastric carcinoma cell line from a 74 year old Caucasian male (ATCC HTB-135)" []	209670	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Hs 746T
EFO:0002888	EFO:0006589	\N	"" []	EFO:0006589	"human gastric carcinoma cell line from a 74 year old Caucasian male (ATCC HTB-135)" []	209671	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 746T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006589	"human gastric carcinoma cell line from a 74 year old Caucasian male (ATCC HTB-135)" []	562849	\N	\N	EFO	2	EFO	cell line	Hs 746T
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006589	"human gastric carcinoma cell line from a 74 year old Caucasian male (ATCC HTB-135)" []	562850	\N	\N	EFO	2	EFO	cell line	Hs 746T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006589	"human gastric carcinoma cell line from a 74 year old Caucasian male (ATCC HTB-135)" []	562851	\N	\N	EFO	2	EFO	cell line	Hs 746T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006589	"human gastric carcinoma cell line from a 74 year old Caucasian male (ATCC HTB-135)" []	1144237	\N	\N	EFO	3	EFO	material entity	Hs 746T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006589	"human gastric carcinoma cell line from a 74 year old Caucasian male (ATCC HTB-135)" []	2026855	\N	\N	EFO	4	EFO	experimental factor	Hs 746T
EFO:0006590	\N	\N	"human pancreatic carcinoma from a 46 year old Caucasian male (ATCC HTB-134)" []	EFO:0006590	"human pancreatic carcinoma from a 46 year old Caucasian male (ATCC HTB-134)" []	67865	\N	\N	EFO	0	EFO	Hs 766T	Hs 766T
EFO:0001639	EFO:0006590	\N	"" []	EFO:0006590	"human pancreatic carcinoma from a 46 year old Caucasian male (ATCC HTB-134)" []	209672	\N	\N	EFO	1	EFO	cancer cell line	Hs 766T
EFO:0001641	EFO:0006590	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006590	"human pancreatic carcinoma from a 46 year old Caucasian male (ATCC HTB-134)" []	209673	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Hs 766T
EFO:0002888	EFO:0006590	\N	"" []	EFO:0006590	"human pancreatic carcinoma from a 46 year old Caucasian male (ATCC HTB-134)" []	209674	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 766T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006590	"human pancreatic carcinoma from a 46 year old Caucasian male (ATCC HTB-134)" []	562852	\N	\N	EFO	2	EFO	cell line	Hs 766T
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006590	"human pancreatic carcinoma from a 46 year old Caucasian male (ATCC HTB-134)" []	562853	\N	\N	EFO	2	EFO	cell line	Hs 766T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006590	"human pancreatic carcinoma from a 46 year old Caucasian male (ATCC HTB-134)" []	562854	\N	\N	EFO	2	EFO	cell line	Hs 766T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006590	"human pancreatic carcinoma from a 46 year old Caucasian male (ATCC HTB-134)" []	1144238	\N	\N	EFO	3	EFO	material entity	Hs 766T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006590	"human pancreatic carcinoma from a 46 year old Caucasian male (ATCC HTB-134)" []	2026856	\N	\N	EFO	4	EFO	experimental factor	Hs 766T
EFO:0006591	\N	\N	"human melanoma cell line from a 42 year old Caucasian female (ATCC CRL-7572)" []	EFO:0006591	"human melanoma cell line from a 42 year old Caucasian female (ATCC CRL-7572)" []	67866	\N	\N	EFO	0	EFO	Hs 839.T	Hs 839.T
BTO:0000849	EFO:0006591	\N	"" []	EFO:0006591	"human melanoma cell line from a 42 year old Caucasian female (ATCC CRL-7572)" []	209675	\N	\N	EFO	1	EFO	melanoma cell line	Hs 839.T
EFO:0002009	EFO:0006591	\N	"" []	EFO:0006591	"human melanoma cell line from a 42 year old Caucasian female (ATCC CRL-7572)" []	209676	\N	\N	EFO	1	EFO	fibroblast derived cell line	Hs 839.T
EFO:0002888	EFO:0006591	\N	"" []	EFO:0006591	"human melanoma cell line from a 42 year old Caucasian female (ATCC CRL-7572)" []	209677	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 839.T
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006591	"human melanoma cell line from a 42 year old Caucasian female (ATCC CRL-7572)" []	562855	\N	\N	EFO	2	EFO	cancer cell line	Hs 839.T
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006591	"human melanoma cell line from a 42 year old Caucasian female (ATCC CRL-7572)" []	562856	\N	\N	EFO	2	EFO	cell line	Hs 839.T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006591	"human melanoma cell line from a 42 year old Caucasian female (ATCC CRL-7572)" []	562857	\N	\N	EFO	2	EFO	cell line	Hs 839.T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006591	"human melanoma cell line from a 42 year old Caucasian female (ATCC CRL-7572)" []	1144239	\N	\N	EFO	3	EFO	cell line	Hs 839.T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006591	"human melanoma cell line from a 42 year old Caucasian female (ATCC CRL-7572)" []	2026857	\N	\N	EFO	4	EFO	material entity	Hs 839.T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006591	"human melanoma cell line from a 42 year old Caucasian female (ATCC CRL-7572)" []	2999726	\N	\N	EFO	5	EFO	experimental factor	Hs 839.T
EFO:0006592	\N	\N	"human melanoma cell line from a 53 year old Asian male (ATCC CRL-7585)" []	EFO:0006592	"human melanoma cell line from a 53 year old Asian male (ATCC CRL-7585)" []	67867	\N	\N	EFO	0	EFO	Hs 852.T	Hs 852.T
BTO:0000849	EFO:0006592	\N	"" []	EFO:0006592	"human melanoma cell line from a 53 year old Asian male (ATCC CRL-7585)" []	209678	\N	\N	EFO	1	EFO	melanoma cell line	Hs 852.T
EFO:0001641	EFO:0006592	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006592	"human melanoma cell line from a 53 year old Asian male (ATCC CRL-7585)" []	209679	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Hs 852.T
EFO:0002888	EFO:0006592	\N	"" []	EFO:0006592	"human melanoma cell line from a 53 year old Asian male (ATCC CRL-7585)" []	209680	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 852.T
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006592	"human melanoma cell line from a 53 year old Asian male (ATCC CRL-7585)" []	562858	\N	\N	EFO	2	EFO	cancer cell line	Hs 852.T
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006592	"human melanoma cell line from a 53 year old Asian male (ATCC CRL-7585)" []	562859	\N	\N	EFO	2	EFO	cell line	Hs 852.T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006592	"human melanoma cell line from a 53 year old Asian male (ATCC CRL-7585)" []	562860	\N	\N	EFO	2	EFO	cell line	Hs 852.T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006592	"human melanoma cell line from a 53 year old Asian male (ATCC CRL-7585)" []	1144241	\N	\N	EFO	3	EFO	cell line	Hs 852.T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006592	"human melanoma cell line from a 53 year old Asian male (ATCC CRL-7585)" []	2026859	\N	\N	EFO	4	EFO	material entity	Hs 852.T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006592	"human melanoma cell line from a 53 year old Asian male (ATCC CRL-7585)" []	2999727	\N	\N	EFO	5	EFO	experimental factor	Hs 852.T
EFO:0006593	\N	\N	"human melanoma cell line from a 48 year old Caucasian female (ATCC CRL-7637)" []	EFO:0006593	"human melanoma cell line from a 48 year old Caucasian female (ATCC CRL-7637)" []	67868	\N	\N	EFO	0	EFO	Hs 895.T	Hs 895.T
BTO:0000849	EFO:0006593	\N	"" []	EFO:0006593	"human melanoma cell line from a 48 year old Caucasian female (ATCC CRL-7637)" []	209681	\N	\N	EFO	1	EFO	melanoma cell line	Hs 895.T
EFO:0002009	EFO:0006593	\N	"" []	EFO:0006593	"human melanoma cell line from a 48 year old Caucasian female (ATCC CRL-7637)" []	209682	\N	\N	EFO	1	EFO	fibroblast derived cell line	Hs 895.T
EFO:0002888	EFO:0006593	\N	"" []	EFO:0006593	"human melanoma cell line from a 48 year old Caucasian female (ATCC CRL-7637)" []	209683	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 895.T
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006593	"human melanoma cell line from a 48 year old Caucasian female (ATCC CRL-7637)" []	562861	\N	\N	EFO	2	EFO	cancer cell line	Hs 895.T
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006593	"human melanoma cell line from a 48 year old Caucasian female (ATCC CRL-7637)" []	562862	\N	\N	EFO	2	EFO	cell line	Hs 895.T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006593	"human melanoma cell line from a 48 year old Caucasian female (ATCC CRL-7637)" []	562863	\N	\N	EFO	2	EFO	cell line	Hs 895.T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006593	"human melanoma cell line from a 48 year old Caucasian female (ATCC CRL-7637)" []	1144243	\N	\N	EFO	3	EFO	cell line	Hs 895.T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006593	"human melanoma cell line from a 48 year old Caucasian female (ATCC CRL-7637)" []	2026861	\N	\N	EFO	4	EFO	material entity	Hs 895.T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006593	"human melanoma cell line from a 48 year old Caucasian female (ATCC CRL-7637)" []	2999728	\N	\N	EFO	5	EFO	experimental factor	Hs 895.T
EFO:0006594	\N	\N	"human melanoma cell line from a male (ATCC CRL-7686)" []	EFO:0006594	"human melanoma cell line from a male (ATCC CRL-7686)" []	67869	\N	\N	EFO	0	EFO	Hs 936.T	Hs 936.T
BTO:0000849	EFO:0006594	\N	"" []	EFO:0006594	"human melanoma cell line from a male (ATCC CRL-7686)" []	209684	\N	\N	EFO	1	EFO	melanoma cell line	Hs 936.T
EFO:0001641	EFO:0006594	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006594	"human melanoma cell line from a male (ATCC CRL-7686)" []	209685	\N	\N	EFO	1	EFO	epithelial cell derived cell line	Hs 936.T
EFO:0002888	EFO:0006594	\N	"" []	EFO:0006594	"human melanoma cell line from a male (ATCC CRL-7686)" []	209686	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 936.T
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006594	"human melanoma cell line from a male (ATCC CRL-7686)" []	562864	\N	\N	EFO	2	EFO	cancer cell line	Hs 936.T
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006594	"human melanoma cell line from a male (ATCC CRL-7686)" []	562865	\N	\N	EFO	2	EFO	cell line	Hs 936.T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006594	"human melanoma cell line from a male (ATCC CRL-7686)" []	562866	\N	\N	EFO	2	EFO	cell line	Hs 936.T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006594	"human melanoma cell line from a male (ATCC CRL-7686)" []	1144245	\N	\N	EFO	3	EFO	cell line	Hs 936.T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006594	"human melanoma cell line from a male (ATCC CRL-7686)" []	2026863	\N	\N	EFO	4	EFO	material entity	Hs 936.T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006594	"human melanoma cell line from a male (ATCC CRL-7686)" []	2999729	\N	\N	EFO	5	EFO	experimental factor	Hs 936.T
EFO:0006595	\N	\N	"human melanoma cell line from a 57 year old Caucasian male (ATCC CRL-7691)" []	EFO:0006595	"human melanoma cell line from a 57 year old Caucasian male (ATCC CRL-7691)" []	67870	\N	\N	EFO	0	EFO	Hs 940.T	Hs 940.T
BTO:0000849	EFO:0006595	\N	"" []	EFO:0006595	"human melanoma cell line from a 57 year old Caucasian male (ATCC CRL-7691)" []	209687	\N	\N	EFO	1	EFO	melanoma cell line	Hs 940.T
EFO:0002009	EFO:0006595	\N	"" []	EFO:0006595	"human melanoma cell line from a 57 year old Caucasian male (ATCC CRL-7691)" []	209688	\N	\N	EFO	1	EFO	fibroblast derived cell line	Hs 940.T
EFO:0002888	EFO:0006595	\N	"" []	EFO:0006595	"human melanoma cell line from a 57 year old Caucasian male (ATCC CRL-7691)" []	209689	\N	\N	EFO	1	EFO	Homo sapiens cell line	Hs 940.T
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006595	"human melanoma cell line from a 57 year old Caucasian male (ATCC CRL-7691)" []	562867	\N	\N	EFO	2	EFO	cancer cell line	Hs 940.T
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006595	"human melanoma cell line from a 57 year old Caucasian male (ATCC CRL-7691)" []	562868	\N	\N	EFO	2	EFO	cell line	Hs 940.T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006595	"human melanoma cell line from a 57 year old Caucasian male (ATCC CRL-7691)" []	562869	\N	\N	EFO	2	EFO	cell line	Hs 940.T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006595	"human melanoma cell line from a 57 year old Caucasian male (ATCC CRL-7691)" []	1144247	\N	\N	EFO	3	EFO	cell line	Hs 940.T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006595	"human melanoma cell line from a 57 year old Caucasian male (ATCC CRL-7691)" []	2026865	\N	\N	EFO	4	EFO	material entity	Hs 940.T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006595	"human melanoma cell line from a 57 year old Caucasian male (ATCC CRL-7691)" []	2999730	\N	\N	EFO	5	EFO	experimental factor	Hs 940.T
EFO:0006596	\N	\N	"human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" []	EFO:0006596	"human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" []	67871	\N	\N	EFO	0	EFO	HuP-T3	HuP-T3
EFO:0001639	EFO:0006596	\N	"" []	EFO:0006596	"human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" []	209690	\N	\N	EFO	1	EFO	cancer cell line	HuP-T3
EFO:0001641	EFO:0006596	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006596	"human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" []	209691	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HuP-T3
EFO:0002888	EFO:0006596	\N	"" []	EFO:0006596	"human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" []	209692	\N	\N	EFO	1	EFO	Homo sapiens cell line	HuP-T3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006596	"human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" []	562870	\N	\N	EFO	2	EFO	cell line	HuP-T3
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006596	"human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" []	562871	\N	\N	EFO	2	EFO	cell line	HuP-T3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006596	"human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" []	562872	\N	\N	EFO	2	EFO	cell line	HuP-T3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006596	"human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" []	1144249	\N	\N	EFO	3	EFO	material entity	HuP-T3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006596	"human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" []	2026867	\N	\N	EFO	4	EFO	experimental factor	HuP-T3
EFO:0006597	\N	\N	"human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" []	EFO:0006597	"human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" []	67872	\N	\N	EFO	0	EFO	IGR-37	IGR-37
BTO:0000849	EFO:0006597	\N	"" []	EFO:0006597	"human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" []	209693	\N	\N	EFO	1	EFO	melanoma cell line	IGR-37
EFO:0001641	EFO:0006597	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006597	"human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" []	209694	\N	\N	EFO	1	EFO	epithelial cell derived cell line	IGR-37
EFO:0002888	EFO:0006597	\N	"" []	EFO:0006597	"human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" []	209695	\N	\N	EFO	1	EFO	Homo sapiens cell line	IGR-37
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006597	"human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" []	562873	\N	\N	EFO	2	EFO	cancer cell line	IGR-37
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006597	"human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" []	562874	\N	\N	EFO	2	EFO	cell line	IGR-37
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006597	"human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" []	562875	\N	\N	EFO	2	EFO	cell line	IGR-37
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006597	"human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" []	1144250	\N	\N	EFO	3	EFO	cell line	IGR-37
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006597	"human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" []	2026868	\N	\N	EFO	4	EFO	material entity	IGR-37
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006597	"human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" []	2999731	\N	\N	EFO	5	EFO	experimental factor	IGR-37
EFO:0006598	\N	\N	"human stomach adenocarcinoma cell line from a 63 year old Japanese male with moderately differentiated adenocarcinoma of stomach" []	EFO:0006598	"human stomach adenocarcinoma cell line from a 63 year old Japanese male with moderately differentiated adenocarcinoma of stomach" []	67873	\N	\N	EFO	0	EFO	IM95m	IM95m
EFO:0001639	EFO:0006598	\N	"" []	EFO:0006598	"human stomach adenocarcinoma cell line from a 63 year old Japanese male with moderately differentiated adenocarcinoma of stomach" []	209696	\N	\N	EFO	1	EFO	cancer cell line	IM95m
EFO:0001641	EFO:0006598	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006598	"human stomach adenocarcinoma cell line from a 63 year old Japanese male with moderately differentiated adenocarcinoma of stomach" []	209697	\N	\N	EFO	1	EFO	epithelial cell derived cell line	IM95m
EFO:0002888	EFO:0006598	\N	"" []	EFO:0006598	"human stomach adenocarcinoma cell line from a 63 year old Japanese male with moderately differentiated adenocarcinoma of stomach" []	209698	\N	\N	EFO	1	EFO	Homo sapiens cell line	IM95m
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006598	"human stomach adenocarcinoma cell line from a 63 year old Japanese male with moderately differentiated adenocarcinoma of stomach" []	562876	\N	\N	EFO	2	EFO	cell line	IM95m
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006598	"human stomach adenocarcinoma cell line from a 63 year old Japanese male with moderately differentiated adenocarcinoma of stomach" []	562877	\N	\N	EFO	2	EFO	cell line	IM95m
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006598	"human stomach adenocarcinoma cell line from a 63 year old Japanese male with moderately differentiated adenocarcinoma of stomach" []	562878	\N	\N	EFO	2	EFO	cell line	IM95m
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006598	"human stomach adenocarcinoma cell line from a 63 year old Japanese male with moderately differentiated adenocarcinoma of stomach" []	1144252	\N	\N	EFO	3	EFO	material entity	IM95m
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006598	"human stomach adenocarcinoma cell line from a 63 year old Japanese male with moderately differentiated adenocarcinoma of stomach" []	2026870	\N	\N	EFO	4	EFO	experimental factor	IM95m
EFO:0006599	\N	\N	"human hepatocellular carcinoma cell line from a 50 year old Japanese male with complication of hepatic cirrhosis and hepatocellular carcinoma" []	EFO:0006599	"human hepatocellular carcinoma cell line from a 50 year old Japanese male with complication of hepatic cirrhosis and hepatocellular carcinoma" []	67874	\N	\N	EFO	0	EFO	JHH-1	JHH-1
EFO:0001641	EFO:0006599	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006599	"human hepatocellular carcinoma cell line from a 50 year old Japanese male with complication of hepatic cirrhosis and hepatocellular carcinoma" []	209699	\N	\N	EFO	1	EFO	epithelial cell derived cell line	JHH-1
EFO:0002888	EFO:0006599	\N	"" []	EFO:0006599	"human hepatocellular carcinoma cell line from a 50 year old Japanese male with complication of hepatic cirrhosis and hepatocellular carcinoma" []	209700	\N	\N	EFO	1	EFO	Homo sapiens cell line	JHH-1
EFO:0005216	EFO:0006599	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0006599	"human hepatocellular carcinoma cell line from a 50 year old Japanese male with complication of hepatic cirrhosis and hepatocellular carcinoma" []	209701	\N	\N	EFO	1	EFO	hepatoma cell line	JHH-1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006599	"human hepatocellular carcinoma cell line from a 50 year old Japanese male with complication of hepatic cirrhosis and hepatocellular carcinoma" []	562879	\N	\N	EFO	2	EFO	cell line	JHH-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006599	"human hepatocellular carcinoma cell line from a 50 year old Japanese male with complication of hepatic cirrhosis and hepatocellular carcinoma" []	562880	\N	\N	EFO	2	EFO	cell line	JHH-1
EFO:0001639	EFO:0005216	\N	"" []	EFO:0006599	"human hepatocellular carcinoma cell line from a 50 year old Japanese male with complication of hepatic cirrhosis and hepatocellular carcinoma" []	562881	\N	\N	EFO	2	EFO	cancer cell line	JHH-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006599	"human hepatocellular carcinoma cell line from a 50 year old Japanese male with complication of hepatic cirrhosis and hepatocellular carcinoma" []	2026872	\N	\N	EFO	4	EFO	material entity	JHH-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006599	"human hepatocellular carcinoma cell line from a 50 year old Japanese male with complication of hepatic cirrhosis and hepatocellular carcinoma" []	1144254	\N	\N	EFO	3	EFO	cell line	JHH-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006599	"human hepatocellular carcinoma cell line from a 50 year old Japanese male with complication of hepatic cirrhosis and hepatocellular carcinoma" []	2999732	\N	\N	EFO	5	EFO	experimental factor	JHH-1
EFO:0006600	\N	\N	"human hepatocellular carcinoma cell line from a 57 year old Japanese male with hepatocellular carcinoma" []	EFO:0006600	"human hepatocellular carcinoma cell line from a 57 year old Japanese male with hepatocellular carcinoma" []	67875	\N	\N	EFO	0	EFO	JHH-2	JHH-2
EFO:0002888	EFO:0006600	\N	"" []	EFO:0006600	"human hepatocellular carcinoma cell line from a 57 year old Japanese male with hepatocellular carcinoma" []	209702	\N	\N	EFO	1	EFO	Homo sapiens cell line	JHH-2
EFO:0005216	EFO:0006600	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0006600	"human hepatocellular carcinoma cell line from a 57 year old Japanese male with hepatocellular carcinoma" []	209703	\N	\N	EFO	1	EFO	hepatoma cell line	JHH-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006600	"human hepatocellular carcinoma cell line from a 57 year old Japanese male with hepatocellular carcinoma" []	562882	\N	\N	EFO	2	EFO	cell line	JHH-2
EFO:0001639	EFO:0005216	\N	"" []	EFO:0006600	"human hepatocellular carcinoma cell line from a 57 year old Japanese male with hepatocellular carcinoma" []	562883	\N	\N	EFO	2	EFO	cancer cell line	JHH-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006600	"human hepatocellular carcinoma cell line from a 57 year old Japanese male with hepatocellular carcinoma" []	2026874	\N	\N	EFO	4	EFO	material entity	JHH-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006600	"human hepatocellular carcinoma cell line from a 57 year old Japanese male with hepatocellular carcinoma" []	1144256	\N	\N	EFO	3	EFO	cell line	JHH-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006600	"human hepatocellular carcinoma cell line from a 57 year old Japanese male with hepatocellular carcinoma" []	2999733	\N	\N	EFO	5	EFO	experimental factor	JHH-2
EFO:0006601	\N	\N	"human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" []	EFO:0006601	"human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" []	67876	\N	\N	EFO	0	EFO	JHH-4	JHH-4
EFO:0001641	EFO:0006601	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006601	"human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" []	209704	\N	\N	EFO	1	EFO	epithelial cell derived cell line	JHH-4
EFO:0002888	EFO:0006601	\N	"" []	EFO:0006601	"human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" []	209705	\N	\N	EFO	1	EFO	Homo sapiens cell line	JHH-4
EFO:0005216	EFO:0006601	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0006601	"human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" []	209706	\N	\N	EFO	1	EFO	hepatoma cell line	JHH-4
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006601	"human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" []	562884	\N	\N	EFO	2	EFO	cell line	JHH-4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006601	"human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" []	562885	\N	\N	EFO	2	EFO	cell line	JHH-4
EFO:0001639	EFO:0005216	\N	"" []	EFO:0006601	"human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" []	562886	\N	\N	EFO	2	EFO	cancer cell line	JHH-4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006601	"human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" []	2026876	\N	\N	EFO	4	EFO	material entity	JHH-4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006601	"human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" []	1144258	\N	\N	EFO	3	EFO	cell line	JHH-4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006601	"human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" []	2999734	\N	\N	EFO	5	EFO	experimental factor	JHH-4
EFO:0006602	\N	\N	"human hepatocellular carcinoma cell line from a 50 year old male with small liver cancer observed in the chronic hepatitis" []	EFO:0006602	"human hepatocellular carcinoma cell line from a 50 year old male with small liver cancer observed in the chronic hepatitis" []	67877	\N	\N	EFO	0	EFO	JHH-5	JHH-5
EFO:0001641	EFO:0006602	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006602	"human hepatocellular carcinoma cell line from a 50 year old male with small liver cancer observed in the chronic hepatitis" []	209707	\N	\N	EFO	1	EFO	epithelial cell derived cell line	JHH-5
EFO:0002888	EFO:0006602	\N	"" []	EFO:0006602	"human hepatocellular carcinoma cell line from a 50 year old male with small liver cancer observed in the chronic hepatitis" []	209708	\N	\N	EFO	1	EFO	Homo sapiens cell line	JHH-5
EFO:0005216	EFO:0006602	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0006602	"human hepatocellular carcinoma cell line from a 50 year old male with small liver cancer observed in the chronic hepatitis" []	209709	\N	\N	EFO	1	EFO	hepatoma cell line	JHH-5
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006602	"human hepatocellular carcinoma cell line from a 50 year old male with small liver cancer observed in the chronic hepatitis" []	562887	\N	\N	EFO	2	EFO	cell line	JHH-5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006602	"human hepatocellular carcinoma cell line from a 50 year old male with small liver cancer observed in the chronic hepatitis" []	562888	\N	\N	EFO	2	EFO	cell line	JHH-5
EFO:0001639	EFO:0005216	\N	"" []	EFO:0006602	"human hepatocellular carcinoma cell line from a 50 year old male with small liver cancer observed in the chronic hepatitis" []	562889	\N	\N	EFO	2	EFO	cancer cell line	JHH-5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006602	"human hepatocellular carcinoma cell line from a 50 year old male with small liver cancer observed in the chronic hepatitis" []	2026878	\N	\N	EFO	4	EFO	material entity	JHH-5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006602	"human hepatocellular carcinoma cell line from a 50 year old male with small liver cancer observed in the chronic hepatitis" []	1144260	\N	\N	EFO	3	EFO	cell line	JHH-5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006602	"human hepatocellular carcinoma cell line from a 50 year old male with small liver cancer observed in the chronic hepatitis" []	2999735	\N	\N	EFO	5	EFO	experimental factor	JHH-5
EFO:0006603	\N	\N	"human hepatocellular carcinoma cell line from a 53 year old male with HBs-Ag positive hepato cellular carcinoma (Ed.III) with liver cirrhosis" []	EFO:0006603	"human hepatocellular carcinoma cell line from a 53 year old male with HBs-Ag positive hepato cellular carcinoma (Ed.III) with liver cirrhosis" []	67878	\N	\N	EFO	0	EFO	JHH-7	JHH-7
EFO:0001641	EFO:0006603	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006603	"human hepatocellular carcinoma cell line from a 53 year old male with HBs-Ag positive hepato cellular carcinoma (Ed.III) with liver cirrhosis" []	209710	\N	\N	EFO	1	EFO	epithelial cell derived cell line	JHH-7
EFO:0002888	EFO:0006603	\N	"" []	EFO:0006603	"human hepatocellular carcinoma cell line from a 53 year old male with HBs-Ag positive hepato cellular carcinoma (Ed.III) with liver cirrhosis" []	209711	\N	\N	EFO	1	EFO	Homo sapiens cell line	JHH-7
EFO:0005216	EFO:0006603	\N	"A cell line used as model for hepatocellular carcinoma." []	EFO:0006603	"human hepatocellular carcinoma cell line from a 53 year old male with HBs-Ag positive hepato cellular carcinoma (Ed.III) with liver cirrhosis" []	209712	\N	\N	EFO	1	EFO	hepatoma cell line	JHH-7
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006603	"human hepatocellular carcinoma cell line from a 53 year old male with HBs-Ag positive hepato cellular carcinoma (Ed.III) with liver cirrhosis" []	562890	\N	\N	EFO	2	EFO	cell line	JHH-7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006603	"human hepatocellular carcinoma cell line from a 53 year old male with HBs-Ag positive hepato cellular carcinoma (Ed.III) with liver cirrhosis" []	562891	\N	\N	EFO	2	EFO	cell line	JHH-7
EFO:0001639	EFO:0005216	\N	"" []	EFO:0006603	"human hepatocellular carcinoma cell line from a 53 year old male with HBs-Ag positive hepato cellular carcinoma (Ed.III) with liver cirrhosis" []	562892	\N	\N	EFO	2	EFO	cancer cell line	JHH-7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006603	"human hepatocellular carcinoma cell line from a 53 year old male with HBs-Ag positive hepato cellular carcinoma (Ed.III) with liver cirrhosis" []	2026880	\N	\N	EFO	4	EFO	material entity	JHH-7
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006603	"human hepatocellular carcinoma cell line from a 53 year old male with HBs-Ag positive hepato cellular carcinoma (Ed.III) with liver cirrhosis" []	1144262	\N	\N	EFO	3	EFO	cell line	JHH-7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006603	"human hepatocellular carcinoma cell line from a 53 year old male with HBs-Ag positive hepato cellular carcinoma (Ed.III) with liver cirrhosis" []	2999736	\N	\N	EFO	5	EFO	experimental factor	JHH-7
EFO:0006604	\N	\N	"human chondrosarcoma cell line" []	EFO:0006604	"human chondrosarcoma cell line" []	67879	\N	\N	EFO	0	EFO	JJ012	JJ012
EFO:0001639	EFO:0006604	\N	"" []	EFO:0006604	"human chondrosarcoma cell line" []	209713	\N	\N	EFO	1	EFO	cancer cell line	JJ012
EFO:0002888	EFO:0006604	\N	"" []	EFO:0006604	"human chondrosarcoma cell line" []	209714	\N	\N	EFO	1	EFO	Homo sapiens cell line	JJ012
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006604	"human chondrosarcoma cell line" []	562893	\N	\N	EFO	2	EFO	cell line	JJ012
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006604	"human chondrosarcoma cell line" []	562894	\N	\N	EFO	2	EFO	cell line	JJ012
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006604	"human chondrosarcoma cell line" []	1144263	\N	\N	EFO	3	EFO	material entity	JJ012
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006604	"human chondrosarcoma cell line" []	2026881	\N	\N	EFO	4	EFO	experimental factor	JJ012
EFO:0006605	\N	\N	"human leukemia cell line established from the bone marrow of a 57-year-old woman with plasma cell leukemia (IgA1kappa) at diagnosis in 1987 (DSMZ catalog number ACC 541)" []	EFO:0006605	"human leukemia cell line established from the bone marrow of a 57-year-old woman with plasma cell leukemia (IgA1kappa) at diagnosis in 1987 (DSMZ catalog number ACC 541)" []	67880	\N	\N	EFO	0	EFO	JJN-3	JJN-3
EFO:0001639	EFO:0006605	\N	"" []	EFO:0006605	"human leukemia cell line established from the bone marrow of a 57-year-old woman with plasma cell leukemia (IgA1kappa) at diagnosis in 1987 (DSMZ catalog number ACC 541)" []	209715	\N	\N	EFO	1	EFO	cancer cell line	JJN-3
EFO:0002888	EFO:0006605	\N	"" []	EFO:0006605	"human leukemia cell line established from the bone marrow of a 57-year-old woman with plasma cell leukemia (IgA1kappa) at diagnosis in 1987 (DSMZ catalog number ACC 541)" []	209716	\N	\N	EFO	1	EFO	Homo sapiens cell line	JJN-3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006605	"human leukemia cell line established from the bone marrow of a 57-year-old woman with plasma cell leukemia (IgA1kappa) at diagnosis in 1987 (DSMZ catalog number ACC 541)" []	562895	\N	\N	EFO	2	EFO	cell line	JJN-3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006605	"human leukemia cell line established from the bone marrow of a 57-year-old woman with plasma cell leukemia (IgA1kappa) at diagnosis in 1987 (DSMZ catalog number ACC 541)" []	562896	\N	\N	EFO	2	EFO	cell line	JJN-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006605	"human leukemia cell line established from the bone marrow of a 57-year-old woman with plasma cell leukemia (IgA1kappa) at diagnosis in 1987 (DSMZ catalog number ACC 541)" []	1144264	\N	\N	EFO	3	EFO	material entity	JJN-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006605	"human leukemia cell line established from the bone marrow of a 57-year-old woman with plasma cell leukemia (IgA1kappa) at diagnosis in 1987 (DSMZ catalog number ACC 541)" []	2026882	\N	\N	EFO	4	EFO	experimental factor	JJN-3
EFO:0006606	\N	\N	"human B-cell lymphoma cell line established from a pleural effusion of a 23 year old women with mediastinal lymphoblastic B-cell non-Hodgkin?s lymphoma (Sigma catalog number 06072607)" []	EFO:0006606	"human B-cell lymphoma cell line established from a pleural effusion of a 23 year old women with mediastinal lymphoblastic B-cell non-Hodgkin?s lymphoma (Sigma catalog number 06072607)" []	67881	\N	\N	EFO	0	EFO	KARPAS 1106P	KARPAS 1106P
EFO:0001639	EFO:0006606	\N	"" []	EFO:0006606	"human B-cell lymphoma cell line established from a pleural effusion of a 23 year old women with mediastinal lymphoblastic B-cell non-Hodgkin?s lymphoma (Sigma catalog number 06072607)" []	209717	\N	\N	EFO	1	EFO	cancer cell line	KARPAS 1106P
EFO:0002888	EFO:0006606	\N	"" []	EFO:0006606	"human B-cell lymphoma cell line established from a pleural effusion of a 23 year old women with mediastinal lymphoblastic B-cell non-Hodgkin?s lymphoma (Sigma catalog number 06072607)" []	209718	\N	\N	EFO	1	EFO	Homo sapiens cell line	KARPAS 1106P
EFO:0005292	EFO:0006606	\N	"" []	EFO:0006606	"human B-cell lymphoma cell line established from a pleural effusion of a 23 year old women with mediastinal lymphoblastic B-cell non-Hodgkin?s lymphoma (Sigma catalog number 06072607)" []	209719	\N	\N	EFO	1	EFO	lymphoblastoid cell line	KARPAS 1106P
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006606	"human B-cell lymphoma cell line established from a pleural effusion of a 23 year old women with mediastinal lymphoblastic B-cell non-Hodgkin?s lymphoma (Sigma catalog number 06072607)" []	562897	\N	\N	EFO	2	EFO	cell line	KARPAS 1106P
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006606	"human B-cell lymphoma cell line established from a pleural effusion of a 23 year old women with mediastinal lymphoblastic B-cell non-Hodgkin?s lymphoma (Sigma catalog number 06072607)" []	562898	\N	\N	EFO	2	EFO	cell line	KARPAS 1106P
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006606	"human B-cell lymphoma cell line established from a pleural effusion of a 23 year old women with mediastinal lymphoblastic B-cell non-Hodgkin?s lymphoma (Sigma catalog number 06072607)" []	562899	\N	\N	EFO	2	EFO	cell line	KARPAS 1106P
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006606	"human B-cell lymphoma cell line established from a pleural effusion of a 23 year old women with mediastinal lymphoblastic B-cell non-Hodgkin?s lymphoma (Sigma catalog number 06072607)" []	1144265	\N	\N	EFO	3	EFO	material entity	KARPAS 1106P
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006606	"human B-cell lymphoma cell line established from a pleural effusion of a 23 year old women with mediastinal lymphoblastic B-cell non-Hodgkin?s lymphoma (Sigma catalog number 06072607)" []	2026883	\N	\N	EFO	4	EFO	experimental factor	KARPAS 1106P
EFO:0006607	\N	\N	"human acute myeloid leukemia cell line established from the peripheral blood of a 7-year-old Japanese boy with acute myeloid leukemia (AML FAB M2) (in 2nd relapse after bone marrow transplantation) in 1989 (DSMZ catalog number AAC 2200" []	EFO:0006607	"human acute myeloid leukemia cell line established from the peripheral blood of a 7-year-old Japanese boy with acute myeloid leukemia (AML FAB M2) (in 2nd relapse after bone marrow transplantation) in 1989 (DSMZ catalog number AAC 2200" []	67882	\N	\N	EFO	0	EFO	Kasumi-1	Kasumi-1
EFO:0002888	EFO:0006607	\N	"" []	EFO:0006607	"human acute myeloid leukemia cell line established from the peripheral blood of a 7-year-old Japanese boy with acute myeloid leukemia (AML FAB M2) (in 2nd relapse after bone marrow transplantation) in 1989 (DSMZ catalog number AAC 2200" []	209720	\N	\N	EFO	1	EFO	Homo sapiens cell line	Kasumi-1
EFO:0002937	EFO:0006607	\N	"" []	EFO:0006607	"human acute myeloid leukemia cell line established from the peripheral blood of a 7-year-old Japanese boy with acute myeloid leukemia (AML FAB M2) (in 2nd relapse after bone marrow transplantation) in 1989 (DSMZ catalog number AAC 2200" []	209721	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	Kasumi-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006607	"human acute myeloid leukemia cell line established from the peripheral blood of a 7-year-old Japanese boy with acute myeloid leukemia (AML FAB M2) (in 2nd relapse after bone marrow transplantation) in 1989 (DSMZ catalog number AAC 2200" []	562900	\N	\N	EFO	2	EFO	cell line	Kasumi-1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006607	"human acute myeloid leukemia cell line established from the peripheral blood of a 7-year-old Japanese boy with acute myeloid leukemia (AML FAB M2) (in 2nd relapse after bone marrow transplantation) in 1989 (DSMZ catalog number AAC 2200" []	562901	\N	\N	EFO	2	EFO	cancer cell line	Kasumi-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006607	"human acute myeloid leukemia cell line established from the peripheral blood of a 7-year-old Japanese boy with acute myeloid leukemia (AML FAB M2) (in 2nd relapse after bone marrow transplantation) in 1989 (DSMZ catalog number AAC 2200" []	2026885	\N	\N	EFO	4	EFO	material entity	Kasumi-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006607	"human acute myeloid leukemia cell line established from the peripheral blood of a 7-year-old Japanese boy with acute myeloid leukemia (AML FAB M2) (in 2nd relapse after bone marrow transplantation) in 1989 (DSMZ catalog number AAC 2200" []	1144267	\N	\N	EFO	3	EFO	cell line	Kasumi-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006607	"human acute myeloid leukemia cell line established from the peripheral blood of a 7-year-old Japanese boy with acute myeloid leukemia (AML FAB M2) (in 2nd relapse after bone marrow transplantation) in 1989 (DSMZ catalog number AAC 2200" []	2999737	\N	\N	EFO	5	EFO	experimental factor	Kasumi-1
EFO:0006608	\N	\N	"human pancreatic adenocarcinoma cell line from the moderately differentiated adenocarcinoma of the head of the pancreas from a 74-year-old African-American man in 1996 (DSMZ catalog number ACC 498)" []	EFO:0006608	"human pancreatic adenocarcinoma cell line from the moderately differentiated adenocarcinoma of the head of the pancreas from a 74-year-old African-American man in 1996 (DSMZ catalog number ACC 498)" []	67883	\N	\N	EFO	0	EFO	KCI-MOH1	KCI-MOH1
EFO:0001639	EFO:0006608	\N	"" []	EFO:0006608	"human pancreatic adenocarcinoma cell line from the moderately differentiated adenocarcinoma of the head of the pancreas from a 74-year-old African-American man in 1996 (DSMZ catalog number ACC 498)" []	209722	\N	\N	EFO	1	EFO	cancer cell line	KCI-MOH1
EFO:0001641	EFO:0006608	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006608	"human pancreatic adenocarcinoma cell line from the moderately differentiated adenocarcinoma of the head of the pancreas from a 74-year-old African-American man in 1996 (DSMZ catalog number ACC 498)" []	209723	\N	\N	EFO	1	EFO	epithelial cell derived cell line	KCI-MOH1
EFO:0002888	EFO:0006608	\N	"" []	EFO:0006608	"human pancreatic adenocarcinoma cell line from the moderately differentiated adenocarcinoma of the head of the pancreas from a 74-year-old African-American man in 1996 (DSMZ catalog number ACC 498)" []	209724	\N	\N	EFO	1	EFO	Homo sapiens cell line	KCI-MOH1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006608	"human pancreatic adenocarcinoma cell line from the moderately differentiated adenocarcinoma of the head of the pancreas from a 74-year-old African-American man in 1996 (DSMZ catalog number ACC 498)" []	562902	\N	\N	EFO	2	EFO	cell line	KCI-MOH1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006608	"human pancreatic adenocarcinoma cell line from the moderately differentiated adenocarcinoma of the head of the pancreas from a 74-year-old African-American man in 1996 (DSMZ catalog number ACC 498)" []	562903	\N	\N	EFO	2	EFO	cell line	KCI-MOH1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006608	"human pancreatic adenocarcinoma cell line from the moderately differentiated adenocarcinoma of the head of the pancreas from a 74-year-old African-American man in 1996 (DSMZ catalog number ACC 498)" []	562904	\N	\N	EFO	2	EFO	cell line	KCI-MOH1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006608	"human pancreatic adenocarcinoma cell line from the moderately differentiated adenocarcinoma of the head of the pancreas from a 74-year-old African-American man in 1996 (DSMZ catalog number ACC 498)" []	1144268	\N	\N	EFO	3	EFO	material entity	KCI-MOH1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006608	"human pancreatic adenocarcinoma cell line from the moderately differentiated adenocarcinoma of the head of the pancreas from a 74-year-old African-American man in 1996 (DSMZ catalog number ACC 498)" []	2026886	\N	\N	EFO	4	EFO	experimental factor	KCI-MOH1
EFO:0006609	\N	\N	"human multiple myeloma cell line established from a pleural effusion of a 53 year old man with IgA lambda multiple myeloma with hyperamylasemia" []	EFO:0006609	"human multiple myeloma cell line established from a pleural effusion of a 53 year old man with IgA lambda multiple myeloma with hyperamylasemia" []	67884	\N	\N	EFO	0	EFO	KHM-1B	KHM-1B
EFO:0001639	EFO:0006609	\N	"" []	EFO:0006609	"human multiple myeloma cell line established from a pleural effusion of a 53 year old man with IgA lambda multiple myeloma with hyperamylasemia" []	209725	\N	\N	EFO	1	EFO	cancer cell line	KHM-1B
EFO:0002888	EFO:0006609	\N	"" []	EFO:0006609	"human multiple myeloma cell line established from a pleural effusion of a 53 year old man with IgA lambda multiple myeloma with hyperamylasemia" []	209726	\N	\N	EFO	1	EFO	Homo sapiens cell line	KHM-1B
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006609	"human multiple myeloma cell line established from a pleural effusion of a 53 year old man with IgA lambda multiple myeloma with hyperamylasemia" []	562905	\N	\N	EFO	2	EFO	cell line	KHM-1B
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006609	"human multiple myeloma cell line established from a pleural effusion of a 53 year old man with IgA lambda multiple myeloma with hyperamylasemia" []	562906	\N	\N	EFO	2	EFO	cell line	KHM-1B
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006609	"human multiple myeloma cell line established from a pleural effusion of a 53 year old man with IgA lambda multiple myeloma with hyperamylasemia" []	1144269	\N	\N	EFO	3	EFO	material entity	KHM-1B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006609	"human multiple myeloma cell line established from a pleural effusion of a 53 year old man with IgA lambda multiple myeloma with hyperamylasemia" []	2026887	\N	\N	EFO	4	EFO	experimental factor	KHM-1B
EFO:0006610	\N	\N	"human pancreatic carcinoma cell line" []	EFO:0006610	"human pancreatic carcinoma cell line" []	67885	\N	\N	EFO	0	EFO	KLM-1	KLM-1
EFO:0001639	EFO:0006610	\N	"" []	EFO:0006610	"human pancreatic carcinoma cell line" []	209727	\N	\N	EFO	1	EFO	cancer cell line	KLM-1
EFO:0002888	EFO:0006610	\N	"" []	EFO:0006610	"human pancreatic carcinoma cell line" []	209728	\N	\N	EFO	1	EFO	Homo sapiens cell line	KLM-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006610	"human pancreatic carcinoma cell line" []	562907	\N	\N	EFO	2	EFO	cell line	KLM-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006610	"human pancreatic carcinoma cell line" []	562908	\N	\N	EFO	2	EFO	cell line	KLM-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006610	"human pancreatic carcinoma cell line" []	1144270	\N	\N	EFO	3	EFO	material entity	KLM-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006610	"human pancreatic carcinoma cell line" []	2026888	\N	\N	EFO	4	EFO	experimental factor	KLM-1
EFO:0006611	\N	\N	"human multiple myeloma cell line from a 62 year old Japanese male" []	EFO:0006611	"human multiple myeloma cell line from a 62 year old Japanese male" []	67886	\N	\N	EFO	0	EFO	KMM-1	KMM-1
EFO:0001639	EFO:0006611	\N	"" []	EFO:0006611	"human multiple myeloma cell line from a 62 year old Japanese male" []	209729	\N	\N	EFO	1	EFO	cancer cell line	KMM-1
EFO:0002888	EFO:0006611	\N	"" []	EFO:0006611	"human multiple myeloma cell line from a 62 year old Japanese male" []	209730	\N	\N	EFO	1	EFO	Homo sapiens cell line	KMM-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006611	"human multiple myeloma cell line from a 62 year old Japanese male" []	562909	\N	\N	EFO	2	EFO	cell line	KMM-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006611	"human multiple myeloma cell line from a 62 year old Japanese male" []	562910	\N	\N	EFO	2	EFO	cell line	KMM-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006611	"human multiple myeloma cell line from a 62 year old Japanese male" []	1144271	\N	\N	EFO	3	EFO	material entity	KMM-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006611	"human multiple myeloma cell line from a 62 year old Japanese male" []	2026889	\N	\N	EFO	4	EFO	experimental factor	KMM-1
EFO:0006612	\N	\N	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988 (DSMZ catalog number ACC 551)" []	EFO:0006612	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988 (DSMZ catalog number ACC 551)" []	67887	\N	\N	EFO	0	EFO	KMS-12-BM	KMS-12-BM
EFO:0001639	EFO:0006612	\N	"" []	EFO:0006612	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988 (DSMZ catalog number ACC 551)" []	209731	\N	\N	EFO	1	EFO	cancer cell line	KMS-12-BM
EFO:0002888	EFO:0006612	\N	"" []	EFO:0006612	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988 (DSMZ catalog number ACC 551)" []	209732	\N	\N	EFO	1	EFO	Homo sapiens cell line	KMS-12-BM
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006612	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988 (DSMZ catalog number ACC 551)" []	562911	\N	\N	EFO	2	EFO	cell line	KMS-12-BM
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006612	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988 (DSMZ catalog number ACC 551)" []	562912	\N	\N	EFO	2	EFO	cell line	KMS-12-BM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006612	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988 (DSMZ catalog number ACC 551)" []	1144272	\N	\N	EFO	3	EFO	material entity	KMS-12-BM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006612	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988 (DSMZ catalog number ACC 551)" []	2026890	\N	\N	EFO	4	EFO	experimental factor	KMS-12-BM
EFO:0006613	\N	\N	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988" []	EFO:0006613	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988" []	67888	\N	\N	EFO	0	EFO	KMS-12-PE	KMS-12-PE
EFO:0001639	EFO:0006613	\N	"" []	EFO:0006613	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988" []	209733	\N	\N	EFO	1	EFO	cancer cell line	KMS-12-PE
EFO:0002888	EFO:0006613	\N	"" []	EFO:0006613	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988" []	209734	\N	\N	EFO	1	EFO	Homo sapiens cell line	KMS-12-PE
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006613	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988" []	562913	\N	\N	EFO	2	EFO	cell line	KMS-12-PE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006613	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988" []	562914	\N	\N	EFO	2	EFO	cell line	KMS-12-PE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006613	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988" []	1144273	\N	\N	EFO	3	EFO	material entity	KMS-12-PE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006613	"human multiple myeloma cell line established from the bone marrow of a 64-year-old woman with multiple myeloma in 1988" []	2026891	\N	\N	EFO	4	EFO	experimental factor	KMS-12-PE
EFO:0006614	\N	\N	"human multiple myeloma cell line from a 62 year old Japanese male" []	EFO:0006614	"human multiple myeloma cell line from a 62 year old Japanese male" []	67889	\N	\N	EFO	0	EFO	KMS-21-BM	KMS-21-BM
EFO:0001639	EFO:0006614	\N	"" []	EFO:0006614	"human multiple myeloma cell line from a 62 year old Japanese male" []	209735	\N	\N	EFO	1	EFO	cancer cell line	KMS-21-BM
EFO:0002888	EFO:0006614	\N	"" []	EFO:0006614	"human multiple myeloma cell line from a 62 year old Japanese male" []	209736	\N	\N	EFO	1	EFO	Homo sapiens cell line	KMS-21-BM
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006614	"human multiple myeloma cell line from a 62 year old Japanese male" []	562915	\N	\N	EFO	2	EFO	cell line	KMS-21-BM
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006614	"human multiple myeloma cell line from a 62 year old Japanese male" []	562916	\N	\N	EFO	2	EFO	cell line	KMS-21-BM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006614	"human multiple myeloma cell line from a 62 year old Japanese male" []	1144274	\N	\N	EFO	3	EFO	material entity	KMS-21-BM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006614	"human multiple myeloma cell line from a 62 year old Japanese male" []	2026892	\N	\N	EFO	4	EFO	experimental factor	KMS-21-BM
EFO:0006615	\N	\N	"human multiple myeloma cell line from a 50 year old Japanese male" []	EFO:0006615	"human multiple myeloma cell line from a 50 year old Japanese male" []	67890	\N	\N	EFO	0	EFO	KMS-26	KMS-26
EFO:0001639	EFO:0006615	\N	"" []	EFO:0006615	"human multiple myeloma cell line from a 50 year old Japanese male" []	209737	\N	\N	EFO	1	EFO	cancer cell line	KMS-26
EFO:0002888	EFO:0006615	\N	"" []	EFO:0006615	"human multiple myeloma cell line from a 50 year old Japanese male" []	209738	\N	\N	EFO	1	EFO	Homo sapiens cell line	KMS-26
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006615	"human multiple myeloma cell line from a 50 year old Japanese male" []	562917	\N	\N	EFO	2	EFO	cell line	KMS-26
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006615	"human multiple myeloma cell line from a 50 year old Japanese male" []	562918	\N	\N	EFO	2	EFO	cell line	KMS-26
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006615	"human multiple myeloma cell line from a 50 year old Japanese male" []	1144275	\N	\N	EFO	3	EFO	material entity	KMS-26
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006615	"human multiple myeloma cell line from a 50 year old Japanese male" []	2026893	\N	\N	EFO	4	EFO	experimental factor	KMS-26
EFO:0006616	\N	\N	"human multiple myeloma cell line from a 52 year old Japanese male" []	EFO:0006616	"human multiple myeloma cell line from a 52 year old Japanese male" []	67891	\N	\N	EFO	0	EFO	KMS-27	KMS-27
EFO:0001639	EFO:0006616	\N	"" []	EFO:0006616	"human multiple myeloma cell line from a 52 year old Japanese male" []	209739	\N	\N	EFO	1	EFO	cancer cell line	KMS-27
EFO:0002888	EFO:0006616	\N	"" []	EFO:0006616	"human multiple myeloma cell line from a 52 year old Japanese male" []	209740	\N	\N	EFO	1	EFO	Homo sapiens cell line	KMS-27
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006616	"human multiple myeloma cell line from a 52 year old Japanese male" []	562919	\N	\N	EFO	2	EFO	cell line	KMS-27
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006616	"human multiple myeloma cell line from a 52 year old Japanese male" []	562920	\N	\N	EFO	2	EFO	cell line	KMS-27
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006616	"human multiple myeloma cell line from a 52 year old Japanese male" []	1144276	\N	\N	EFO	3	EFO	material entity	KMS-27
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006616	"human multiple myeloma cell line from a 52 year old Japanese male" []	2026894	\N	\N	EFO	4	EFO	experimental factor	KMS-27
EFO:0006617	\N	\N	"human multiple myeloma cell line from a 77 year old female" []	EFO:0006617	"human multiple myeloma cell line from a 77 year old female" []	67892	\N	\N	EFO	0	EFO	KMS-28BM	KMS-28BM
EFO:0001639	EFO:0006617	\N	"" []	EFO:0006617	"human multiple myeloma cell line from a 77 year old female" []	209741	\N	\N	EFO	1	EFO	cancer cell line	KMS-28BM
EFO:0002888	EFO:0006617	\N	"" []	EFO:0006617	"human multiple myeloma cell line from a 77 year old female" []	209742	\N	\N	EFO	1	EFO	Homo sapiens cell line	KMS-28BM
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006617	"human multiple myeloma cell line from a 77 year old female" []	562921	\N	\N	EFO	2	EFO	cell line	KMS-28BM
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006617	"human multiple myeloma cell line from a 77 year old female" []	562922	\N	\N	EFO	2	EFO	cell line	KMS-28BM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006617	"human multiple myeloma cell line from a 77 year old female" []	1144277	\N	\N	EFO	3	EFO	material entity	KMS-28BM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006617	"human multiple myeloma cell line from a 77 year old female" []	2026895	\N	\N	EFO	4	EFO	experimental factor	KMS-28BM
EFO:0006618	\N	\N	"human multiple myeloma cell line from a 77 year old Japanese female" []	EFO:0006618	"human multiple myeloma cell line from a 77 year old Japanese female" []	67893	\N	\N	EFO	0	EFO	KMS-28PE	KMS-28PE
EFO:0001639	EFO:0006618	\N	"" []	EFO:0006618	"human multiple myeloma cell line from a 77 year old Japanese female" []	209743	\N	\N	EFO	1	EFO	cancer cell line	KMS-28PE
EFO:0002888	EFO:0006618	\N	"" []	EFO:0006618	"human multiple myeloma cell line from a 77 year old Japanese female" []	209744	\N	\N	EFO	1	EFO	Homo sapiens cell line	KMS-28PE
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006618	"human multiple myeloma cell line from a 77 year old Japanese female" []	562923	\N	\N	EFO	2	EFO	cell line	KMS-28PE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006618	"human multiple myeloma cell line from a 77 year old Japanese female" []	562924	\N	\N	EFO	2	EFO	cell line	KMS-28PE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006618	"human multiple myeloma cell line from a 77 year old Japanese female" []	1144278	\N	\N	EFO	3	EFO	material entity	KMS-28PE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006618	"human multiple myeloma cell line from a 77 year old Japanese female" []	2026896	\N	\N	EFO	4	EFO	experimental factor	KMS-28PE
EFO:0006619	\N	\N	"human multiple myeloma cell line from a 60 year old Japanese female" []	EFO:0006619	"human multiple myeloma cell line from a 60 year old Japanese female" []	67894	\N	\N	EFO	0	EFO	KMS-34	KMS-34
EFO:0001639	EFO:0006619	\N	"" []	EFO:0006619	"human multiple myeloma cell line from a 60 year old Japanese female" []	209745	\N	\N	EFO	1	EFO	cancer cell line	KMS-34
EFO:0002888	EFO:0006619	\N	"" []	EFO:0006619	"human multiple myeloma cell line from a 60 year old Japanese female" []	209746	\N	\N	EFO	1	EFO	Homo sapiens cell line	KMS-34
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006619	"human multiple myeloma cell line from a 60 year old Japanese female" []	562925	\N	\N	EFO	2	EFO	cell line	KMS-34
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006619	"human multiple myeloma cell line from a 60 year old Japanese female" []	562926	\N	\N	EFO	2	EFO	cell line	KMS-34
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006619	"human multiple myeloma cell line from a 60 year old Japanese female" []	1144279	\N	\N	EFO	3	EFO	material entity	KMS-34
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006619	"human multiple myeloma cell line from a 60 year old Japanese female" []	2026897	\N	\N	EFO	4	EFO	experimental factor	KMS-34
EFO:0006620	\N	\N	"human non-small cell lung carcinoma line established from a 49 year old male patient with a non-small cell lung carcinoma" []	EFO:0006620	"human non-small cell lung carcinoma line established from a 49 year old male patient with a non-small cell lung carcinoma" []	67895	\N	\N	EFO	0	EFO	KNS-62	KNS-62
EFO:0001641	EFO:0006620	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006620	"human non-small cell lung carcinoma line established from a 49 year old male patient with a non-small cell lung carcinoma" []	209747	\N	\N	EFO	1	EFO	epithelial cell derived cell line	KNS-62
EFO:0002888	EFO:0006620	\N	"" []	EFO:0006620	"human non-small cell lung carcinoma line established from a 49 year old male patient with a non-small cell lung carcinoma" []	209748	\N	\N	EFO	1	EFO	Homo sapiens cell line	KNS-62
EFO:0002934	EFO:0006620	\N	"" []	EFO:0006620	"human non-small cell lung carcinoma line established from a 49 year old male patient with a non-small cell lung carcinoma" []	209749	\N	\N	EFO	1	EFO	lung cancer cell line	KNS-62
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006620	"human non-small cell lung carcinoma line established from a 49 year old male patient with a non-small cell lung carcinoma" []	562927	\N	\N	EFO	2	EFO	cell line	KNS-62
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006620	"human non-small cell lung carcinoma line established from a 49 year old male patient with a non-small cell lung carcinoma" []	562928	\N	\N	EFO	2	EFO	cell line	KNS-62
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006620	"human non-small cell lung carcinoma line established from a 49 year old male patient with a non-small cell lung carcinoma" []	562929	\N	\N	EFO	2	EFO	cancer cell line	KNS-62
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006620	"human non-small cell lung carcinoma line established from a 49 year old male patient with a non-small cell lung carcinoma" []	2026899	\N	\N	EFO	4	EFO	material entity	KNS-62
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006620	"human non-small cell lung carcinoma line established from a 49 year old male patient with a non-small cell lung carcinoma" []	1144281	\N	\N	EFO	3	EFO	cell line	KNS-62
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006620	"human non-small cell lung carcinoma line established from a 49 year old male patient with a non-small cell lung carcinoma" []	2999738	\N	\N	EFO	5	EFO	experimental factor	KNS-62
EFO:0006621	\N	\N	"human pancreatic carcinoma cell line established from a 50 year old Japanese male with pancreatic ductal cell carcinoma" []	EFO:0006621	"human pancreatic carcinoma cell line established from a 50 year old Japanese male with pancreatic ductal cell carcinoma" []	67896	\N	\N	EFO	0	EFO	KP-2	KP-2
EFO:0001639	EFO:0006621	\N	"" []	EFO:0006621	"human pancreatic carcinoma cell line established from a 50 year old Japanese male with pancreatic ductal cell carcinoma" []	209750	\N	\N	EFO	1	EFO	cancer cell line	KP-2
EFO:0001641	EFO:0006621	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006621	"human pancreatic carcinoma cell line established from a 50 year old Japanese male with pancreatic ductal cell carcinoma" []	209751	\N	\N	EFO	1	EFO	epithelial cell derived cell line	KP-2
EFO:0002888	EFO:0006621	\N	"" []	EFO:0006621	"human pancreatic carcinoma cell line established from a 50 year old Japanese male with pancreatic ductal cell carcinoma" []	209752	\N	\N	EFO	1	EFO	Homo sapiens cell line	KP-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006621	"human pancreatic carcinoma cell line established from a 50 year old Japanese male with pancreatic ductal cell carcinoma" []	562930	\N	\N	EFO	2	EFO	cell line	KP-2
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006621	"human pancreatic carcinoma cell line established from a 50 year old Japanese male with pancreatic ductal cell carcinoma" []	562931	\N	\N	EFO	2	EFO	cell line	KP-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006621	"human pancreatic carcinoma cell line established from a 50 year old Japanese male with pancreatic ductal cell carcinoma" []	562932	\N	\N	EFO	2	EFO	cell line	KP-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006621	"human pancreatic carcinoma cell line established from a 50 year old Japanese male with pancreatic ductal cell carcinoma" []	1144282	\N	\N	EFO	3	EFO	material entity	KP-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006621	"human pancreatic carcinoma cell line established from a 50 year old Japanese male with pancreatic ductal cell carcinoma" []	2026900	\N	\N	EFO	4	EFO	experimental factor	KP-2
EFO:0006622	\N	\N	"human pancreatic adenosquamous carcinoma cell line from a 75 year old Japanese male" []	EFO:0006622	"human pancreatic adenosquamous carcinoma cell line from a 75 year old Japanese male" []	67897	\N	\N	EFO	0	EFO	KP-3	KP-3
EFO:0001639	EFO:0006622	\N	"" []	EFO:0006622	"human pancreatic adenosquamous carcinoma cell line from a 75 year old Japanese male" []	209753	\N	\N	EFO	1	EFO	cancer cell line	KP-3
EFO:0002888	EFO:0006622	\N	"" []	EFO:0006622	"human pancreatic adenosquamous carcinoma cell line from a 75 year old Japanese male" []	209754	\N	\N	EFO	1	EFO	Homo sapiens cell line	KP-3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006622	"human pancreatic adenosquamous carcinoma cell line from a 75 year old Japanese male" []	562933	\N	\N	EFO	2	EFO	cell line	KP-3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006622	"human pancreatic adenosquamous carcinoma cell line from a 75 year old Japanese male" []	562934	\N	\N	EFO	2	EFO	cell line	KP-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006622	"human pancreatic adenosquamous carcinoma cell line from a 75 year old Japanese male" []	1144283	\N	\N	EFO	3	EFO	material entity	KP-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006622	"human pancreatic adenosquamous carcinoma cell line from a 75 year old Japanese male" []	2026901	\N	\N	EFO	4	EFO	experimental factor	KP-3
EFO:0006623	\N	\N	"human pancreatic ductal carcinoma cell line from a 50 year old Japanese male" []	EFO:0006623	"human pancreatic ductal carcinoma cell line from a 50 year old Japanese male" []	67898	\N	\N	EFO	0	EFO	KP-4	KP-4
EFO:0001639	EFO:0006623	\N	"" []	EFO:0006623	"human pancreatic ductal carcinoma cell line from a 50 year old Japanese male" []	209755	\N	\N	EFO	1	EFO	cancer cell line	KP-4
EFO:0001641	EFO:0006623	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006623	"human pancreatic ductal carcinoma cell line from a 50 year old Japanese male" []	209756	\N	\N	EFO	1	EFO	epithelial cell derived cell line	KP-4
EFO:0002888	EFO:0006623	\N	"" []	EFO:0006623	"human pancreatic ductal carcinoma cell line from a 50 year old Japanese male" []	209757	\N	\N	EFO	1	EFO	Homo sapiens cell line	KP-4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006623	"human pancreatic ductal carcinoma cell line from a 50 year old Japanese male" []	562935	\N	\N	EFO	2	EFO	cell line	KP-4
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006623	"human pancreatic ductal carcinoma cell line from a 50 year old Japanese male" []	562936	\N	\N	EFO	2	EFO	cell line	KP-4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006623	"human pancreatic ductal carcinoma cell line from a 50 year old Japanese male" []	562937	\N	\N	EFO	2	EFO	cell line	KP-4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006623	"human pancreatic ductal carcinoma cell line from a 50 year old Japanese male" []	1144284	\N	\N	EFO	3	EFO	material entity	KP-4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006623	"human pancreatic ductal carcinoma cell line from a 50 year old Japanese male" []	2026902	\N	\N	EFO	4	EFO	experimental factor	KP-4
EFO:0006624	\N	\N	"human breast ductal adenocarcinoma cell line from a 52 year old Japanese female" []	EFO:0006624	"human breast ductal adenocarcinoma cell line from a 52 year old Japanese female" []	67899	\N	\N	EFO	0	EFO	KPL-4	KPL-4
EFO:0001639	EFO:0006624	\N	"" []	EFO:0006624	"human breast ductal adenocarcinoma cell line from a 52 year old Japanese female" []	209758	\N	\N	EFO	1	EFO	cancer cell line	KPL-4
EFO:0002888	EFO:0006624	\N	"" []	EFO:0006624	"human breast ductal adenocarcinoma cell line from a 52 year old Japanese female" []	209759	\N	\N	EFO	1	EFO	Homo sapiens cell line	KPL-4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006624	"human breast ductal adenocarcinoma cell line from a 52 year old Japanese female" []	562938	\N	\N	EFO	2	EFO	cell line	KPL-4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006624	"human breast ductal adenocarcinoma cell line from a 52 year old Japanese female" []	562939	\N	\N	EFO	2	EFO	cell line	KPL-4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006624	"human breast ductal adenocarcinoma cell line from a 52 year old Japanese female" []	1144285	\N	\N	EFO	3	EFO	material entity	KPL-4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006624	"human breast ductal adenocarcinoma cell line from a 52 year old Japanese female" []	2026903	\N	\N	EFO	4	EFO	experimental factor	KPL-4
EFO:0006625	\N	\N	"human ovarian carcinoma from a Japanese female with ovarian cancer, undifferentiated carcinoma" []	EFO:0006625	"human ovarian carcinoma from a Japanese female with ovarian cancer, undifferentiated carcinoma" []	67900	\N	\N	EFO	0	EFO	KURAMOCHI	KURAMOCHI
EFO:0001641	EFO:0006625	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006625	"human ovarian carcinoma from a Japanese female with ovarian cancer, undifferentiated carcinoma" []	209760	\N	\N	EFO	1	EFO	epithelial cell derived cell line	KURAMOCHI
EFO:0002394	EFO:0006625	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006625	"human ovarian carcinoma from a Japanese female with ovarian cancer, undifferentiated carcinoma" []	209761	\N	\N	EFO	1	EFO	ovarian cancer cell lines	KURAMOCHI
EFO:0002888	EFO:0006625	\N	"" []	EFO:0006625	"human ovarian carcinoma from a Japanese female with ovarian cancer, undifferentiated carcinoma" []	209762	\N	\N	EFO	1	EFO	Homo sapiens cell line	KURAMOCHI
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006625	"human ovarian carcinoma from a Japanese female with ovarian cancer, undifferentiated carcinoma" []	562940	\N	\N	EFO	2	EFO	cell line	KURAMOCHI
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006625	"human ovarian carcinoma from a Japanese female with ovarian cancer, undifferentiated carcinoma" []	562941	\N	\N	EFO	2	EFO	cancer cell line	KURAMOCHI
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006625	"human ovarian carcinoma from a Japanese female with ovarian cancer, undifferentiated carcinoma" []	562942	\N	\N	EFO	2	EFO	cell line	KURAMOCHI
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006625	"human ovarian carcinoma from a Japanese female with ovarian cancer, undifferentiated carcinoma" []	2026905	\N	\N	EFO	4	EFO	material entity	KURAMOCHI
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006625	"human ovarian carcinoma from a Japanese female with ovarian cancer, undifferentiated carcinoma" []	1144287	\N	\N	EFO	3	EFO	cell line	KURAMOCHI
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006625	"human ovarian carcinoma from a Japanese female with ovarian cancer, undifferentiated carcinoma" []	2999739	\N	\N	EFO	5	EFO	experimental factor	KURAMOCHI
EFO:0006626	\N	\N	"human esophageal squamous carcinoma cell line derived from the moderately differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 54-year-old Japanese man prior to treatment (DSMZ catalog number ACC 348)" []	EFO:0006626	"human esophageal squamous carcinoma cell line derived from the moderately differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 54-year-old Japanese man prior to treatment (DSMZ catalog number ACC 348)" []	67901	\N	\N	EFO	0	EFO	KYSE-140	KYSE-140
EFO:0001639	EFO:0006626	\N	"" []	EFO:0006626	"human esophageal squamous carcinoma cell line derived from the moderately differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 54-year-old Japanese man prior to treatment (DSMZ catalog number ACC 348)" []	209763	\N	\N	EFO	1	EFO	cancer cell line	KYSE-140
EFO:0002888	EFO:0006626	\N	"" []	EFO:0006626	"human esophageal squamous carcinoma cell line derived from the moderately differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 54-year-old Japanese man prior to treatment (DSMZ catalog number ACC 348)" []	209764	\N	\N	EFO	1	EFO	Homo sapiens cell line	KYSE-140
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006626	"human esophageal squamous carcinoma cell line derived from the moderately differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 54-year-old Japanese man prior to treatment (DSMZ catalog number ACC 348)" []	562943	\N	\N	EFO	2	EFO	cell line	KYSE-140
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006626	"human esophageal squamous carcinoma cell line derived from the moderately differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 54-year-old Japanese man prior to treatment (DSMZ catalog number ACC 348)" []	562944	\N	\N	EFO	2	EFO	cell line	KYSE-140
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006626	"human esophageal squamous carcinoma cell line derived from the moderately differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 54-year-old Japanese man prior to treatment (DSMZ catalog number ACC 348)" []	1144288	\N	\N	EFO	3	EFO	material entity	KYSE-140
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006626	"human esophageal squamous carcinoma cell line derived from the moderately differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 54-year-old Japanese man prior to treatment (DSMZ catalog number ACC 348)" []	2026906	\N	\N	EFO	4	EFO	experimental factor	KYSE-140
EFO:0006627	\N	\N	"human esophageal squamous carcinoma cell line established from the poorly differentiated esophageal squamous cell carcinoma resected from upper (cervical) esophagus of a 49-year-old Japanese woman after receiving radiotherapy (DSMZ catalog number ACC 375)" []	EFO:0006627	"human esophageal squamous carcinoma cell line established from the poorly differentiated esophageal squamous cell carcinoma resected from upper (cervical) esophagus of a 49-year-old Japanese woman after receiving radiotherapy (DSMZ catalog number ACC 375)" []	67902	\N	\N	EFO	0	EFO	KYSE-150	KYSE-150
EFO:0001639	EFO:0006627	\N	"" []	EFO:0006627	"human esophageal squamous carcinoma cell line established from the poorly differentiated esophageal squamous cell carcinoma resected from upper (cervical) esophagus of a 49-year-old Japanese woman after receiving radiotherapy (DSMZ catalog number ACC 375)" []	209765	\N	\N	EFO	1	EFO	cancer cell line	KYSE-150
EFO:0001641	EFO:0006627	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006627	"human esophageal squamous carcinoma cell line established from the poorly differentiated esophageal squamous cell carcinoma resected from upper (cervical) esophagus of a 49-year-old Japanese woman after receiving radiotherapy (DSMZ catalog number ACC 375)" []	209766	\N	\N	EFO	1	EFO	epithelial cell derived cell line	KYSE-150
EFO:0002888	EFO:0006627	\N	"" []	EFO:0006627	"human esophageal squamous carcinoma cell line established from the poorly differentiated esophageal squamous cell carcinoma resected from upper (cervical) esophagus of a 49-year-old Japanese woman after receiving radiotherapy (DSMZ catalog number ACC 375)" []	209767	\N	\N	EFO	1	EFO	Homo sapiens cell line	KYSE-150
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006627	"human esophageal squamous carcinoma cell line established from the poorly differentiated esophageal squamous cell carcinoma resected from upper (cervical) esophagus of a 49-year-old Japanese woman after receiving radiotherapy (DSMZ catalog number ACC 375)" []	562945	\N	\N	EFO	2	EFO	cell line	KYSE-150
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006627	"human esophageal squamous carcinoma cell line established from the poorly differentiated esophageal squamous cell carcinoma resected from upper (cervical) esophagus of a 49-year-old Japanese woman after receiving radiotherapy (DSMZ catalog number ACC 375)" []	562946	\N	\N	EFO	2	EFO	cell line	KYSE-150
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006627	"human esophageal squamous carcinoma cell line established from the poorly differentiated esophageal squamous cell carcinoma resected from upper (cervical) esophagus of a 49-year-old Japanese woman after receiving radiotherapy (DSMZ catalog number ACC 375)" []	562947	\N	\N	EFO	2	EFO	cell line	KYSE-150
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006627	"human esophageal squamous carcinoma cell line established from the poorly differentiated esophageal squamous cell carcinoma resected from upper (cervical) esophagus of a 49-year-old Japanese woman after receiving radiotherapy (DSMZ catalog number ACC 375)" []	1144289	\N	\N	EFO	3	EFO	material entity	KYSE-150
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006627	"human esophageal squamous carcinoma cell line established from the poorly differentiated esophageal squamous cell carcinoma resected from upper (cervical) esophagus of a 49-year-old Japanese woman after receiving radiotherapy (DSMZ catalog number ACC 375)" []	2026907	\N	\N	EFO	4	EFO	experimental factor	KYSE-150
EFO:0006628	\N	\N	"human esophageal squamous carcinoma cell line established from the well differentiated esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 53-year-old Japanese man prior to treatment (DSMZ catalog number ACC 379)" []	EFO:0006628	"human esophageal squamous carcinoma cell line established from the well differentiated esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 53-year-old Japanese man prior to treatment (DSMZ catalog number ACC 379)" []	67903	\N	\N	EFO	0	EFO	KYSE-180	KYSE-180
EFO:0001639	EFO:0006628	\N	"" []	EFO:0006628	"human esophageal squamous carcinoma cell line established from the well differentiated esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 53-year-old Japanese man prior to treatment (DSMZ catalog number ACC 379)" []	209768	\N	\N	EFO	1	EFO	cancer cell line	KYSE-180
EFO:0001641	EFO:0006628	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006628	"human esophageal squamous carcinoma cell line established from the well differentiated esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 53-year-old Japanese man prior to treatment (DSMZ catalog number ACC 379)" []	209769	\N	\N	EFO	1	EFO	epithelial cell derived cell line	KYSE-180
EFO:0002888	EFO:0006628	\N	"" []	EFO:0006628	"human esophageal squamous carcinoma cell line established from the well differentiated esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 53-year-old Japanese man prior to treatment (DSMZ catalog number ACC 379)" []	209770	\N	\N	EFO	1	EFO	Homo sapiens cell line	KYSE-180
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006628	"human esophageal squamous carcinoma cell line established from the well differentiated esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 53-year-old Japanese man prior to treatment (DSMZ catalog number ACC 379)" []	562948	\N	\N	EFO	2	EFO	cell line	KYSE-180
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006628	"human esophageal squamous carcinoma cell line established from the well differentiated esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 53-year-old Japanese man prior to treatment (DSMZ catalog number ACC 379)" []	562949	\N	\N	EFO	2	EFO	cell line	KYSE-180
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006628	"human esophageal squamous carcinoma cell line established from the well differentiated esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 53-year-old Japanese man prior to treatment (DSMZ catalog number ACC 379)" []	562950	\N	\N	EFO	2	EFO	cell line	KYSE-180
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006628	"human esophageal squamous carcinoma cell line established from the well differentiated esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 53-year-old Japanese man prior to treatment (DSMZ catalog number ACC 379)" []	1144290	\N	\N	EFO	3	EFO	material entity	KYSE-180
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006628	"human esophageal squamous carcinoma cell line established from the well differentiated esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 53-year-old Japanese man prior to treatment (DSMZ catalog number ACC 379)" []	2026908	\N	\N	EFO	4	EFO	experimental factor	KYSE-180
EFO:0006629	\N	\N	"human esophageal squamous carcinoma cell line derived from well differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 79-year-old Japanese man prior to treatment (DSMZ catalog number ACC 380)" []	EFO:0006629	"human esophageal squamous carcinoma cell line derived from well differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 79-year-old Japanese man prior to treatment (DSMZ catalog number ACC 380)" []	67904	\N	\N	EFO	0	EFO	KYSE-270	KYSE-270
EFO:0001639	EFO:0006629	\N	"" []	EFO:0006629	"human esophageal squamous carcinoma cell line derived from well differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 79-year-old Japanese man prior to treatment (DSMZ catalog number ACC 380)" []	209771	\N	\N	EFO	1	EFO	cancer cell line	KYSE-270
EFO:0001641	EFO:0006629	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006629	"human esophageal squamous carcinoma cell line derived from well differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 79-year-old Japanese man prior to treatment (DSMZ catalog number ACC 380)" []	209772	\N	\N	EFO	1	EFO	epithelial cell derived cell line	KYSE-270
EFO:0002888	EFO:0006629	\N	"" []	EFO:0006629	"human esophageal squamous carcinoma cell line derived from well differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 79-year-old Japanese man prior to treatment (DSMZ catalog number ACC 380)" []	209773	\N	\N	EFO	1	EFO	Homo sapiens cell line	KYSE-270
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006629	"human esophageal squamous carcinoma cell line derived from well differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 79-year-old Japanese man prior to treatment (DSMZ catalog number ACC 380)" []	562951	\N	\N	EFO	2	EFO	cell line	KYSE-270
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006629	"human esophageal squamous carcinoma cell line derived from well differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 79-year-old Japanese man prior to treatment (DSMZ catalog number ACC 380)" []	562952	\N	\N	EFO	2	EFO	cell line	KYSE-270
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006629	"human esophageal squamous carcinoma cell line derived from well differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 79-year-old Japanese man prior to treatment (DSMZ catalog number ACC 380)" []	562953	\N	\N	EFO	2	EFO	cell line	KYSE-270
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006629	"human esophageal squamous carcinoma cell line derived from well differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 79-year-old Japanese man prior to treatment (DSMZ catalog number ACC 380)" []	1144291	\N	\N	EFO	3	EFO	material entity	KYSE-270
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006629	"human esophageal squamous carcinoma cell line derived from well differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 79-year-old Japanese man prior to treatment (DSMZ catalog number ACC 380)" []	2026909	\N	\N	EFO	4	EFO	experimental factor	KYSE-270
EFO:0006630	\N	\N	"human esophageal squamous carcinoma cell line established from the well differentiated invasive eosphageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 59-year-old Japanese man prior to treatment (DSMZ catalog number ACC 387)" []	EFO:0006630	"human esophageal squamous carcinoma cell line established from the well differentiated invasive eosphageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 59-year-old Japanese man prior to treatment (DSMZ catalog number ACC 387)" []	67905	\N	\N	EFO	0	EFO	KYSE-450	KYSE-450
EFO:0001639	EFO:0006630	\N	"" []	EFO:0006630	"human esophageal squamous carcinoma cell line established from the well differentiated invasive eosphageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 59-year-old Japanese man prior to treatment (DSMZ catalog number ACC 387)" []	209774	\N	\N	EFO	1	EFO	cancer cell line	KYSE-450
EFO:0001641	EFO:0006630	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006630	"human esophageal squamous carcinoma cell line established from the well differentiated invasive eosphageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 59-year-old Japanese man prior to treatment (DSMZ catalog number ACC 387)" []	209775	\N	\N	EFO	1	EFO	epithelial cell derived cell line	KYSE-450
EFO:0002888	EFO:0006630	\N	"" []	EFO:0006630	"human esophageal squamous carcinoma cell line established from the well differentiated invasive eosphageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 59-year-old Japanese man prior to treatment (DSMZ catalog number ACC 387)" []	209776	\N	\N	EFO	1	EFO	Homo sapiens cell line	KYSE-450
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006630	"human esophageal squamous carcinoma cell line established from the well differentiated invasive eosphageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 59-year-old Japanese man prior to treatment (DSMZ catalog number ACC 387)" []	562954	\N	\N	EFO	2	EFO	cell line	KYSE-450
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006630	"human esophageal squamous carcinoma cell line established from the well differentiated invasive eosphageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 59-year-old Japanese man prior to treatment (DSMZ catalog number ACC 387)" []	562955	\N	\N	EFO	2	EFO	cell line	KYSE-450
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006630	"human esophageal squamous carcinoma cell line established from the well differentiated invasive eosphageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 59-year-old Japanese man prior to treatment (DSMZ catalog number ACC 387)" []	562956	\N	\N	EFO	2	EFO	cell line	KYSE-450
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006630	"human esophageal squamous carcinoma cell line established from the well differentiated invasive eosphageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 59-year-old Japanese man prior to treatment (DSMZ catalog number ACC 387)" []	1144292	\N	\N	EFO	3	EFO	material entity	KYSE-450
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006630	"human esophageal squamous carcinoma cell line established from the well differentiated invasive eosphageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 59-year-old Japanese man prior to treatment (DSMZ catalog number ACC 387)" []	2026910	\N	\N	EFO	4	EFO	experimental factor	KYSE-450
EFO:0006631	\N	\N	"human esophageal squamous carcinoma cell line established from the well-differentiated eosphageal squamous cell carcinoma with moderate invasion of the adventitia resected from cervical esophagus of a 67-year-old Japanese woman after cisplatin and radiotherapy (DSMZ catalog number ACC 374)" []	EFO:0006631	"human esophageal squamous carcinoma cell line established from the well-differentiated eosphageal squamous cell carcinoma with moderate invasion of the adventitia resected from cervical esophagus of a 67-year-old Japanese woman after cisplatin and radiotherapy (DSMZ catalog number ACC 374)" []	67906	\N	\N	EFO	0	EFO	KYSE-510	KYSE-510
EFO:0001639	EFO:0006631	\N	"" []	EFO:0006631	"human esophageal squamous carcinoma cell line established from the well-differentiated eosphageal squamous cell carcinoma with moderate invasion of the adventitia resected from cervical esophagus of a 67-year-old Japanese woman after cisplatin and radiotherapy (DSMZ catalog number ACC 374)" []	209777	\N	\N	EFO	1	EFO	cancer cell line	KYSE-510
EFO:0001641	EFO:0006631	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006631	"human esophageal squamous carcinoma cell line established from the well-differentiated eosphageal squamous cell carcinoma with moderate invasion of the adventitia resected from cervical esophagus of a 67-year-old Japanese woman after cisplatin and radiotherapy (DSMZ catalog number ACC 374)" []	209778	\N	\N	EFO	1	EFO	epithelial cell derived cell line	KYSE-510
EFO:0002888	EFO:0006631	\N	"" []	EFO:0006631	"human esophageal squamous carcinoma cell line established from the well-differentiated eosphageal squamous cell carcinoma with moderate invasion of the adventitia resected from cervical esophagus of a 67-year-old Japanese woman after cisplatin and radiotherapy (DSMZ catalog number ACC 374)" []	209779	\N	\N	EFO	1	EFO	Homo sapiens cell line	KYSE-510
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006631	"human esophageal squamous carcinoma cell line established from the well-differentiated eosphageal squamous cell carcinoma with moderate invasion of the adventitia resected from cervical esophagus of a 67-year-old Japanese woman after cisplatin and radiotherapy (DSMZ catalog number ACC 374)" []	562957	\N	\N	EFO	2	EFO	cell line	KYSE-510
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006631	"human esophageal squamous carcinoma cell line established from the well-differentiated eosphageal squamous cell carcinoma with moderate invasion of the adventitia resected from cervical esophagus of a 67-year-old Japanese woman after cisplatin and radiotherapy (DSMZ catalog number ACC 374)" []	562958	\N	\N	EFO	2	EFO	cell line	KYSE-510
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006631	"human esophageal squamous carcinoma cell line established from the well-differentiated eosphageal squamous cell carcinoma with moderate invasion of the adventitia resected from cervical esophagus of a 67-year-old Japanese woman after cisplatin and radiotherapy (DSMZ catalog number ACC 374)" []	562959	\N	\N	EFO	2	EFO	cell line	KYSE-510
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006631	"human esophageal squamous carcinoma cell line established from the well-differentiated eosphageal squamous cell carcinoma with moderate invasion of the adventitia resected from cervical esophagus of a 67-year-old Japanese woman after cisplatin and radiotherapy (DSMZ catalog number ACC 374)" []	1144293	\N	\N	EFO	3	EFO	material entity	KYSE-510
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006631	"human esophageal squamous carcinoma cell line established from the well-differentiated eosphageal squamous cell carcinoma with moderate invasion of the adventitia resected from cervical esophagus of a 67-year-old Japanese woman after cisplatin and radiotherapy (DSMZ catalog number ACC 374)" []	2026911	\N	\N	EFO	4	EFO	experimental factor	KYSE-510
EFO:0006632	\N	\N	"human esophageal squamous carcinoma cell line established from the moderately differentiated invasive eosphageal squamous cell carcinoma resected from lower intra-thoracic esophagus of a 58-year-old Japanese woman prior to treatment (DSMZ catalog number ACC 371)" []	EFO:0006632	"human esophageal squamous carcinoma cell line established from the moderately differentiated invasive eosphageal squamous cell carcinoma resected from lower intra-thoracic esophagus of a 58-year-old Japanese woman prior to treatment (DSMZ catalog number ACC 371)" []	67907	\N	\N	EFO	0	EFO	KYSE-520	KYSE-520
EFO:0001639	EFO:0006632	\N	"" []	EFO:0006632	"human esophageal squamous carcinoma cell line established from the moderately differentiated invasive eosphageal squamous cell carcinoma resected from lower intra-thoracic esophagus of a 58-year-old Japanese woman prior to treatment (DSMZ catalog number ACC 371)" []	209780	\N	\N	EFO	1	EFO	cancer cell line	KYSE-520
EFO:0001641	EFO:0006632	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006632	"human esophageal squamous carcinoma cell line established from the moderately differentiated invasive eosphageal squamous cell carcinoma resected from lower intra-thoracic esophagus of a 58-year-old Japanese woman prior to treatment (DSMZ catalog number ACC 371)" []	209781	\N	\N	EFO	1	EFO	epithelial cell derived cell line	KYSE-520
EFO:0002888	EFO:0006632	\N	"" []	EFO:0006632	"human esophageal squamous carcinoma cell line established from the moderately differentiated invasive eosphageal squamous cell carcinoma resected from lower intra-thoracic esophagus of a 58-year-old Japanese woman prior to treatment (DSMZ catalog number ACC 371)" []	209782	\N	\N	EFO	1	EFO	Homo sapiens cell line	KYSE-520
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006632	"human esophageal squamous carcinoma cell line established from the moderately differentiated invasive eosphageal squamous cell carcinoma resected from lower intra-thoracic esophagus of a 58-year-old Japanese woman prior to treatment (DSMZ catalog number ACC 371)" []	562960	\N	\N	EFO	2	EFO	cell line	KYSE-520
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006632	"human esophageal squamous carcinoma cell line established from the moderately differentiated invasive eosphageal squamous cell carcinoma resected from lower intra-thoracic esophagus of a 58-year-old Japanese woman prior to treatment (DSMZ catalog number ACC 371)" []	562961	\N	\N	EFO	2	EFO	cell line	KYSE-520
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006632	"human esophageal squamous carcinoma cell line established from the moderately differentiated invasive eosphageal squamous cell carcinoma resected from lower intra-thoracic esophagus of a 58-year-old Japanese woman prior to treatment (DSMZ catalog number ACC 371)" []	562962	\N	\N	EFO	2	EFO	cell line	KYSE-520
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006632	"human esophageal squamous carcinoma cell line established from the moderately differentiated invasive eosphageal squamous cell carcinoma resected from lower intra-thoracic esophagus of a 58-year-old Japanese woman prior to treatment (DSMZ catalog number ACC 371)" []	1144294	\N	\N	EFO	3	EFO	material entity	KYSE-520
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006632	"human esophageal squamous carcinoma cell line established from the moderately differentiated invasive eosphageal squamous cell carcinoma resected from lower intra-thoracic esophagus of a 58-year-old Japanese woman prior to treatment (DSMZ catalog number ACC 371)" []	2026912	\N	\N	EFO	4	EFO	experimental factor	KYSE-520
EFO:0006633	\N	\N	"human esophageal squamous carcinoma cell line established from the poorly differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 77-year-old Japanese man prior to treatment (DSMZ catalog number ACC 363)" []	EFO:0006633	"human esophageal squamous carcinoma cell line established from the poorly differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 77-year-old Japanese man prior to treatment (DSMZ catalog number ACC 363)" []	67908	\N	\N	EFO	0	EFO	KYSE-70	KYSE-70
EFO:0001639	EFO:0006633	\N	"" []	EFO:0006633	"human esophageal squamous carcinoma cell line established from the poorly differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 77-year-old Japanese man prior to treatment (DSMZ catalog number ACC 363)" []	209783	\N	\N	EFO	1	EFO	cancer cell line	KYSE-70
EFO:0001641	EFO:0006633	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006633	"human esophageal squamous carcinoma cell line established from the poorly differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 77-year-old Japanese man prior to treatment (DSMZ catalog number ACC 363)" []	209784	\N	\N	EFO	1	EFO	epithelial cell derived cell line	KYSE-70
EFO:0002888	EFO:0006633	\N	"" []	EFO:0006633	"human esophageal squamous carcinoma cell line established from the poorly differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 77-year-old Japanese man prior to treatment (DSMZ catalog number ACC 363)" []	209785	\N	\N	EFO	1	EFO	Homo sapiens cell line	KYSE-70
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006633	"human esophageal squamous carcinoma cell line established from the poorly differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 77-year-old Japanese man prior to treatment (DSMZ catalog number ACC 363)" []	562963	\N	\N	EFO	2	EFO	cell line	KYSE-70
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006633	"human esophageal squamous carcinoma cell line established from the poorly differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 77-year-old Japanese man prior to treatment (DSMZ catalog number ACC 363)" []	562964	\N	\N	EFO	2	EFO	cell line	KYSE-70
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006633	"human esophageal squamous carcinoma cell line established from the poorly differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 77-year-old Japanese man prior to treatment (DSMZ catalog number ACC 363)" []	562965	\N	\N	EFO	2	EFO	cell line	KYSE-70
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006633	"human esophageal squamous carcinoma cell line established from the poorly differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 77-year-old Japanese man prior to treatment (DSMZ catalog number ACC 363)" []	1144295	\N	\N	EFO	3	EFO	material entity	KYSE-70
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006633	"human esophageal squamous carcinoma cell line established from the poorly differentiated invasive esophageal squamous cell carcinoma resected from middle intra-thoracic esophagus of a 77-year-old Japanese man prior to treatment (DSMZ catalog number ACC 363)" []	2026913	\N	\N	EFO	4	EFO	experimental factor	KYSE-70
EFO:0006634	\N	\N	"human large cell lung carcinoma cell line established from the pleural effusion of a 61-year-old Caucasian man with large cell lung carcinoma with giant cells who had received chemo- and radiotherapy (DSMZ catalog number ACC 384)" []	EFO:0006634	"human large cell lung carcinoma cell line established from the pleural effusion of a 61-year-old Caucasian man with large cell lung carcinoma with giant cells who had received chemo- and radiotherapy (DSMZ catalog number ACC 384)" []	67909	\N	\N	EFO	0	EFO	LCLC-103H	LCLC-103H
EFO:0002888	EFO:0006634	\N	"" []	EFO:0006634	"human large cell lung carcinoma cell line established from the pleural effusion of a 61-year-old Caucasian man with large cell lung carcinoma with giant cells who had received chemo- and radiotherapy (DSMZ catalog number ACC 384)" []	209786	\N	\N	EFO	1	EFO	Homo sapiens cell line	LCLC-103H
EFO:0002934	EFO:0006634	\N	"" []	EFO:0006634	"human large cell lung carcinoma cell line established from the pleural effusion of a 61-year-old Caucasian man with large cell lung carcinoma with giant cells who had received chemo- and radiotherapy (DSMZ catalog number ACC 384)" []	209787	\N	\N	EFO	1	EFO	lung cancer cell line	LCLC-103H
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006634	"human large cell lung carcinoma cell line established from the pleural effusion of a 61-year-old Caucasian man with large cell lung carcinoma with giant cells who had received chemo- and radiotherapy (DSMZ catalog number ACC 384)" []	562966	\N	\N	EFO	2	EFO	cell line	LCLC-103H
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006634	"human large cell lung carcinoma cell line established from the pleural effusion of a 61-year-old Caucasian man with large cell lung carcinoma with giant cells who had received chemo- and radiotherapy (DSMZ catalog number ACC 384)" []	562967	\N	\N	EFO	2	EFO	cancer cell line	LCLC-103H
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006634	"human large cell lung carcinoma cell line established from the pleural effusion of a 61-year-old Caucasian man with large cell lung carcinoma with giant cells who had received chemo- and radiotherapy (DSMZ catalog number ACC 384)" []	2026915	\N	\N	EFO	4	EFO	material entity	LCLC-103H
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006634	"human large cell lung carcinoma cell line established from the pleural effusion of a 61-year-old Caucasian man with large cell lung carcinoma with giant cells who had received chemo- and radiotherapy (DSMZ catalog number ACC 384)" []	1144297	\N	\N	EFO	3	EFO	cell line	LCLC-103H
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006634	"human large cell lung carcinoma cell line established from the pleural effusion of a 61-year-old Caucasian man with large cell lung carcinoma with giant cells who had received chemo- and radiotherapy (DSMZ catalog number ACC 384)" []	2999740	\N	\N	EFO	5	EFO	experimental factor	LCLC-103H
EFO:0006635	\N	\N	"human large cell lung carcinoma cell line that represents the xenotransplant of a primary tumor which was obtained from a 44-year-old Caucasian man with large cell lung carcinoma who did not have any prior therapy (DSMZ catalog number ACC 388)" []	EFO:0006635	"human large cell lung carcinoma cell line that represents the xenotransplant of a primary tumor which was obtained from a 44-year-old Caucasian man with large cell lung carcinoma who did not have any prior therapy (DSMZ catalog number ACC 388)" []	67910	\N	\N	EFO	0	EFO	LCLC-97TM1	LCLC-97TM1
EFO:0001641	EFO:0006635	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006635	"human large cell lung carcinoma cell line that represents the xenotransplant of a primary tumor which was obtained from a 44-year-old Caucasian man with large cell lung carcinoma who did not have any prior therapy (DSMZ catalog number ACC 388)" []	209788	\N	\N	EFO	1	EFO	epithelial cell derived cell line	LCLC-97TM1
EFO:0002888	EFO:0006635	\N	"" []	EFO:0006635	"human large cell lung carcinoma cell line that represents the xenotransplant of a primary tumor which was obtained from a 44-year-old Caucasian man with large cell lung carcinoma who did not have any prior therapy (DSMZ catalog number ACC 388)" []	209789	\N	\N	EFO	1	EFO	Homo sapiens cell line	LCLC-97TM1
EFO:0002934	EFO:0006635	\N	"" []	EFO:0006635	"human large cell lung carcinoma cell line that represents the xenotransplant of a primary tumor which was obtained from a 44-year-old Caucasian man with large cell lung carcinoma who did not have any prior therapy (DSMZ catalog number ACC 388)" []	209790	\N	\N	EFO	1	EFO	lung cancer cell line	LCLC-97TM1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006635	"human large cell lung carcinoma cell line that represents the xenotransplant of a primary tumor which was obtained from a 44-year-old Caucasian man with large cell lung carcinoma who did not have any prior therapy (DSMZ catalog number ACC 388)" []	562968	\N	\N	EFO	2	EFO	cell line	LCLC-97TM1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006635	"human large cell lung carcinoma cell line that represents the xenotransplant of a primary tumor which was obtained from a 44-year-old Caucasian man with large cell lung carcinoma who did not have any prior therapy (DSMZ catalog number ACC 388)" []	562969	\N	\N	EFO	2	EFO	cell line	LCLC-97TM1
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006635	"human large cell lung carcinoma cell line that represents the xenotransplant of a primary tumor which was obtained from a 44-year-old Caucasian man with large cell lung carcinoma who did not have any prior therapy (DSMZ catalog number ACC 388)" []	562970	\N	\N	EFO	2	EFO	cancer cell line	LCLC-97TM1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006635	"human large cell lung carcinoma cell line that represents the xenotransplant of a primary tumor which was obtained from a 44-year-old Caucasian man with large cell lung carcinoma who did not have any prior therapy (DSMZ catalog number ACC 388)" []	2026917	\N	\N	EFO	4	EFO	material entity	LCLC-97TM1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006635	"human large cell lung carcinoma cell line that represents the xenotransplant of a primary tumor which was obtained from a 44-year-old Caucasian man with large cell lung carcinoma who did not have any prior therapy (DSMZ catalog number ACC 388)" []	1144299	\N	\N	EFO	3	EFO	cell line	LCLC-97TM1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006635	"human large cell lung carcinoma cell line that represents the xenotransplant of a primary tumor which was obtained from a 44-year-old Caucasian man with large cell lung carcinoma who did not have any prior therapy (DSMZ catalog number ACC 388)" []	2999741	\N	\N	EFO	5	EFO	experimental factor	LCLC-97TM1
EFO:0006636	\N	\N	"human brain glioblastoma cell line from a 65 year old male of white ethnicity (ATCC CRL-2610)" []	EFO:0006636	"human brain glioblastoma cell line from a 65 year old male of white ethnicity (ATCC CRL-2610)" []	67911	\N	\N	EFO	0	EFO	LN-18	LN-18
EFO:0001639	EFO:0006636	\N	"" []	EFO:0006636	"human brain glioblastoma cell line from a 65 year old male of white ethnicity (ATCC CRL-2610)" []	209791	\N	\N	EFO	1	EFO	cancer cell line	LN-18
EFO:0001641	EFO:0006636	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006636	"human brain glioblastoma cell line from a 65 year old male of white ethnicity (ATCC CRL-2610)" []	209792	\N	\N	EFO	1	EFO	epithelial cell derived cell line	LN-18
EFO:0002888	EFO:0006636	\N	"" []	EFO:0006636	"human brain glioblastoma cell line from a 65 year old male of white ethnicity (ATCC CRL-2610)" []	209793	\N	\N	EFO	1	EFO	Homo sapiens cell line	LN-18
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006636	"human brain glioblastoma cell line from a 65 year old male of white ethnicity (ATCC CRL-2610)" []	562971	\N	\N	EFO	2	EFO	cell line	LN-18
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006636	"human brain glioblastoma cell line from a 65 year old male of white ethnicity (ATCC CRL-2610)" []	562972	\N	\N	EFO	2	EFO	cell line	LN-18
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006636	"human brain glioblastoma cell line from a 65 year old male of white ethnicity (ATCC CRL-2610)" []	562973	\N	\N	EFO	2	EFO	cell line	LN-18
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006636	"human brain glioblastoma cell line from a 65 year old male of white ethnicity (ATCC CRL-2610)" []	1144300	\N	\N	EFO	3	EFO	material entity	LN-18
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006636	"human brain glioblastoma cell line from a 65 year old male of white ethnicity (ATCC CRL-2610)" []	2026918	\N	\N	EFO	4	EFO	experimental factor	LN-18
EFO:0006637	\N	\N	"human brain glioblastoma cell line from a 60 year old female of white ethnicity (ATCC CRL-2611)" []	EFO:0006637	"human brain glioblastoma cell line from a 60 year old female of white ethnicity (ATCC CRL-2611)" []	67912	\N	\N	EFO	0	EFO	LN-229	LN-229
EFO:0001639	EFO:0006637	\N	"" []	EFO:0006637	"human brain glioblastoma cell line from a 60 year old female of white ethnicity (ATCC CRL-2611)" []	209794	\N	\N	EFO	1	EFO	cancer cell line	LN-229
EFO:0001641	EFO:0006637	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006637	"human brain glioblastoma cell line from a 60 year old female of white ethnicity (ATCC CRL-2611)" []	209795	\N	\N	EFO	1	EFO	epithelial cell derived cell line	LN-229
EFO:0002888	EFO:0006637	\N	"" []	EFO:0006637	"human brain glioblastoma cell line from a 60 year old female of white ethnicity (ATCC CRL-2611)" []	209796	\N	\N	EFO	1	EFO	Homo sapiens cell line	LN-229
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006637	"human brain glioblastoma cell line from a 60 year old female of white ethnicity (ATCC CRL-2611)" []	562974	\N	\N	EFO	2	EFO	cell line	LN-229
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006637	"human brain glioblastoma cell line from a 60 year old female of white ethnicity (ATCC CRL-2611)" []	562975	\N	\N	EFO	2	EFO	cell line	LN-229
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006637	"human brain glioblastoma cell line from a 60 year old female of white ethnicity (ATCC CRL-2611)" []	562976	\N	\N	EFO	2	EFO	cell line	LN-229
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006637	"human brain glioblastoma cell line from a 60 year old female of white ethnicity (ATCC CRL-2611)" []	1144301	\N	\N	EFO	3	EFO	material entity	LN-229
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006637	"human brain glioblastoma cell line from a 60 year old female of white ethnicity (ATCC CRL-2611)" []	2026919	\N	\N	EFO	4	EFO	experimental factor	LN-229
EFO:0006638	\N	\N	"human lung squamous carcinoma cell line established from the lower right lung lobe removed two months after diagnosis of highly differentiated squamous cell lung carcinoma with metastasis to one lymph node (no visceral involvement) in a 64-year-old woman (DSMZ catalog number ACC 393)" []	EFO:0006638	"human lung squamous carcinoma cell line established from the lower right lung lobe removed two months after diagnosis of highly differentiated squamous cell lung carcinoma with metastasis to one lymph node (no visceral involvement) in a 64-year-old woman (DSMZ catalog number ACC 393)" []	67913	\N	\N	EFO	0	EFO	LOU-NH91	LOU-NH91
EFO:0001641	EFO:0006638	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006638	"human lung squamous carcinoma cell line established from the lower right lung lobe removed two months after diagnosis of highly differentiated squamous cell lung carcinoma with metastasis to one lymph node (no visceral involvement) in a 64-year-old woman (DSMZ catalog number ACC 393)" []	209797	\N	\N	EFO	1	EFO	epithelial cell derived cell line	LOU-NH91
EFO:0002888	EFO:0006638	\N	"" []	EFO:0006638	"human lung squamous carcinoma cell line established from the lower right lung lobe removed two months after diagnosis of highly differentiated squamous cell lung carcinoma with metastasis to one lymph node (no visceral involvement) in a 64-year-old woman (DSMZ catalog number ACC 393)" []	209798	\N	\N	EFO	1	EFO	Homo sapiens cell line	LOU-NH91
EFO:0002934	EFO:0006638	\N	"" []	EFO:0006638	"human lung squamous carcinoma cell line established from the lower right lung lobe removed two months after diagnosis of highly differentiated squamous cell lung carcinoma with metastasis to one lymph node (no visceral involvement) in a 64-year-old woman (DSMZ catalog number ACC 393)" []	209799	\N	\N	EFO	1	EFO	lung cancer cell line	LOU-NH91
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006638	"human lung squamous carcinoma cell line established from the lower right lung lobe removed two months after diagnosis of highly differentiated squamous cell lung carcinoma with metastasis to one lymph node (no visceral involvement) in a 64-year-old woman (DSMZ catalog number ACC 393)" []	562977	\N	\N	EFO	2	EFO	cell line	LOU-NH91
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006638	"human lung squamous carcinoma cell line established from the lower right lung lobe removed two months after diagnosis of highly differentiated squamous cell lung carcinoma with metastasis to one lymph node (no visceral involvement) in a 64-year-old woman (DSMZ catalog number ACC 393)" []	562978	\N	\N	EFO	2	EFO	cell line	LOU-NH91
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006638	"human lung squamous carcinoma cell line established from the lower right lung lobe removed two months after diagnosis of highly differentiated squamous cell lung carcinoma with metastasis to one lymph node (no visceral involvement) in a 64-year-old woman (DSMZ catalog number ACC 393)" []	562979	\N	\N	EFO	2	EFO	cancer cell line	LOU-NH91
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006638	"human lung squamous carcinoma cell line established from the lower right lung lobe removed two months after diagnosis of highly differentiated squamous cell lung carcinoma with metastasis to one lymph node (no visceral involvement) in a 64-year-old woman (DSMZ catalog number ACC 393)" []	2026921	\N	\N	EFO	4	EFO	material entity	LOU-NH91
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006638	"human lung squamous carcinoma cell line established from the lower right lung lobe removed two months after diagnosis of highly differentiated squamous cell lung carcinoma with metastasis to one lymph node (no visceral involvement) in a 64-year-old woman (DSMZ catalog number ACC 393)" []	1144303	\N	\N	EFO	3	EFO	cell line	LOU-NH91
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006638	"human lung squamous carcinoma cell line established from the lower right lung lobe removed two months after diagnosis of highly differentiated squamous cell lung carcinoma with metastasis to one lymph node (no visceral involvement) in a 64-year-old woman (DSMZ catalog number ACC 393)" []	2999742	\N	\N	EFO	5	EFO	experimental factor	LOU-NH91
EFO:0006639	\N	\N	"human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" []	EFO:0006639	"human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" []	67914	\N	\N	EFO	0	EFO	LoVo	LoVo
BTO:0000797	\N	\N	"" []	EFO:0006639	"human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" []	194797	\N	\N	EFO	0	EFO	colonic cancer cell line	LoVo
BTO:0003250	\N	\N	"" []	EFO:0006639	"human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" []	194798	\N	\N	EFO	0	EFO	colonic epithelium cell line	LoVo
EFO:0001639	EFO:0006639	\N	"" []	EFO:0006639	"human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" []	209800	\N	\N	EFO	1	EFO	cancer cell line	LoVo
EFO:0002888	EFO:0006639	\N	"" []	EFO:0006639	"human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" []	209801	\N	\N	EFO	1	EFO	Homo sapiens cell line	LoVo
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006639	"human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" []	562980	\N	\N	EFO	2	EFO	cell line	LoVo
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006639	"human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" []	562981	\N	\N	EFO	2	EFO	cell line	LoVo
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006639	"human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" []	1144304	\N	\N	EFO	3	EFO	material entity	LoVo
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006639	"human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" []	2026922	\N	\N	EFO	4	EFO	experimental factor	LoVo
EFO:0006640	\N	\N	"human colorectal adenocarcinoma cell line from a 58 year old Caucasian female (ATCC CL-187)" []	EFO:0006640	"human colorectal adenocarcinoma cell line from a 58 year old Caucasian female (ATCC CL-187)" []	67915	\N	\N	EFO	0	EFO	LS 180	LS 180
BTO:0000797	\N	\N	"" []	EFO:0006640	"human colorectal adenocarcinoma cell line from a 58 year old Caucasian female (ATCC CL-187)" []	194799	\N	\N	EFO	0	EFO	colonic cancer cell line	LS 180
BTO:0003250	\N	\N	"" []	EFO:0006640	"human colorectal adenocarcinoma cell line from a 58 year old Caucasian female (ATCC CL-187)" []	194800	\N	\N	EFO	0	EFO	colonic epithelium cell line	LS 180
EFO:0001639	EFO:0006640	\N	"" []	EFO:0006640	"human colorectal adenocarcinoma cell line from a 58 year old Caucasian female (ATCC CL-187)" []	209802	\N	\N	EFO	1	EFO	cancer cell line	LS 180
EFO:0002888	EFO:0006640	\N	"" []	EFO:0006640	"human colorectal adenocarcinoma cell line from a 58 year old Caucasian female (ATCC CL-187)" []	209803	\N	\N	EFO	1	EFO	Homo sapiens cell line	LS 180
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006640	"human colorectal adenocarcinoma cell line from a 58 year old Caucasian female (ATCC CL-187)" []	562982	\N	\N	EFO	2	EFO	cell line	LS 180
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006640	"human colorectal adenocarcinoma cell line from a 58 year old Caucasian female (ATCC CL-187)" []	562983	\N	\N	EFO	2	EFO	cell line	LS 180
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006640	"human colorectal adenocarcinoma cell line from a 58 year old Caucasian female (ATCC CL-187)" []	1144305	\N	\N	EFO	3	EFO	material entity	LS 180
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006640	"human colorectal adenocarcinoma cell line from a 58 year old Caucasian female (ATCC CL-187)" []	2026923	\N	\N	EFO	4	EFO	experimental factor	LS 180
EFO:0006641	\N	\N	"human lung adenocarcinoma established from the lung adenocarcinoma of a 63 year old male (DSMZ catalog number ACC 265)" []	EFO:0006641	"human lung adenocarcinoma established from the lung adenocarcinoma of a 63 year old male (DSMZ catalog number ACC 265)" []	67916	\N	\N	EFO	0	EFO	LXF-289	LXF-289
EFO:0001641	EFO:0006641	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006641	"human lung adenocarcinoma established from the lung adenocarcinoma of a 63 year old male (DSMZ catalog number ACC 265)" []	209804	\N	\N	EFO	1	EFO	epithelial cell derived cell line	LXF-289
EFO:0002888	EFO:0006641	\N	"" []	EFO:0006641	"human lung adenocarcinoma established from the lung adenocarcinoma of a 63 year old male (DSMZ catalog number ACC 265)" []	209805	\N	\N	EFO	1	EFO	Homo sapiens cell line	LXF-289
EFO:0002934	EFO:0006641	\N	"" []	EFO:0006641	"human lung adenocarcinoma established from the lung adenocarcinoma of a 63 year old male (DSMZ catalog number ACC 265)" []	209806	\N	\N	EFO	1	EFO	lung cancer cell line	LXF-289
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006641	"human lung adenocarcinoma established from the lung adenocarcinoma of a 63 year old male (DSMZ catalog number ACC 265)" []	562984	\N	\N	EFO	2	EFO	cell line	LXF-289
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006641	"human lung adenocarcinoma established from the lung adenocarcinoma of a 63 year old male (DSMZ catalog number ACC 265)" []	562985	\N	\N	EFO	2	EFO	cell line	LXF-289
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006641	"human lung adenocarcinoma established from the lung adenocarcinoma of a 63 year old male (DSMZ catalog number ACC 265)" []	562986	\N	\N	EFO	2	EFO	cancer cell line	LXF-289
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006641	"human lung adenocarcinoma established from the lung adenocarcinoma of a 63 year old male (DSMZ catalog number ACC 265)" []	2026925	\N	\N	EFO	4	EFO	material entity	LXF-289
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006641	"human lung adenocarcinoma established from the lung adenocarcinoma of a 63 year old male (DSMZ catalog number ACC 265)" []	1144307	\N	\N	EFO	3	EFO	cell line	LXF-289
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006641	"human lung adenocarcinoma established from the lung adenocarcinoma of a 63 year old male (DSMZ catalog number ACC 265)" []	2999743	\N	\N	EFO	5	EFO	experimental factor	LXF-289
EFO:0006642	\N	\N	"human non-small cell lung carcinoma cell line" []	EFO:0006642	"human non-small cell lung carcinoma cell line" []	67917	\N	\N	EFO	0	EFO	LXFL529	LXFL529
EFO:0002888	EFO:0006642	\N	"" []	EFO:0006642	"human non-small cell lung carcinoma cell line" []	209807	\N	\N	EFO	1	EFO	Homo sapiens cell line	LXFL529
EFO:0002934	EFO:0006642	\N	"" []	EFO:0006642	"human non-small cell lung carcinoma cell line" []	209808	\N	\N	EFO	1	EFO	lung cancer cell line	LXFL529
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006642	"human non-small cell lung carcinoma cell line" []	562987	\N	\N	EFO	2	EFO	cell line	LXFL529
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006642	"human non-small cell lung carcinoma cell line" []	562988	\N	\N	EFO	2	EFO	cancer cell line	LXFL529
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006642	"human non-small cell lung carcinoma cell line" []	2026927	\N	\N	EFO	4	EFO	material entity	LXFL529
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006642	"human non-small cell lung carcinoma cell line" []	1144309	\N	\N	EFO	3	EFO	cell line	LXFL529
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006642	"human non-small cell lung carcinoma cell line" []	2999744	\N	\N	EFO	5	EFO	experimental factor	LXFL529
EFO:0006643	\N	\N	"clonal breast cancer cell line derived from a xenograft originating from premalignant MCF10AT cells" []	EFO:0006643	"clonal breast cancer cell line derived from a xenograft originating from premalignant MCF10AT cells" []	67918	\N	\N	EFO	0	EFO	MCF10DCIS.COM	MCF10DCIS.COM
EFO:0002888	EFO:0006643	\N	"" []	EFO:0006643	"clonal breast cancer cell line derived from a xenograft originating from premalignant MCF10AT cells" []	209809	\N	\N	EFO	1	EFO	Homo sapiens cell line	MCF10DCIS.COM
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006643	"clonal breast cancer cell line derived from a xenograft originating from premalignant MCF10AT cells" []	562989	\N	\N	EFO	2	EFO	cell line	MCF10DCIS.COM
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006643	"clonal breast cancer cell line derived from a xenograft originating from premalignant MCF10AT cells" []	1144310	\N	\N	EFO	3	EFO	material entity	MCF10DCIS.COM
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006643	"clonal breast cancer cell line derived from a xenograft originating from premalignant MCF10AT cells" []	2026928	\N	\N	EFO	4	EFO	experimental factor	MCF10DCIS.COM
EFO:0006644	\N	\N	"human colon carcinoma cell line establlished from human colorectal tumor explants (Sigma catalog number 99011801)" []	EFO:0006644	"human colon carcinoma cell line establlished from human colorectal tumor explants (Sigma catalog number 99011801)" []	67919	\N	\N	EFO	0	EFO	MDST8	MDST8
BTO:0000797	\N	\N	"" []	EFO:0006644	"human colon carcinoma cell line establlished from human colorectal tumor explants (Sigma catalog number 99011801)" []	194801	\N	\N	EFO	0	EFO	colonic cancer cell line	MDST8
BTO:0003250	\N	\N	"" []	EFO:0006644	"human colon carcinoma cell line establlished from human colorectal tumor explants (Sigma catalog number 99011801)" []	194802	\N	\N	EFO	0	EFO	colonic epithelium cell line	MDST8
EFO:0001639	EFO:0006644	\N	"" []	EFO:0006644	"human colon carcinoma cell line establlished from human colorectal tumor explants (Sigma catalog number 99011801)" []	209810	\N	\N	EFO	1	EFO	cancer cell line	MDST8
EFO:0002888	EFO:0006644	\N	"" []	EFO:0006644	"human colon carcinoma cell line establlished from human colorectal tumor explants (Sigma catalog number 99011801)" []	209811	\N	\N	EFO	1	EFO	Homo sapiens cell line	MDST8
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006644	"human colon carcinoma cell line establlished from human colorectal tumor explants (Sigma catalog number 99011801)" []	562990	\N	\N	EFO	2	EFO	cell line	MDST8
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006644	"human colon carcinoma cell line establlished from human colorectal tumor explants (Sigma catalog number 99011801)" []	562991	\N	\N	EFO	2	EFO	cell line	MDST8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006644	"human colon carcinoma cell line establlished from human colorectal tumor explants (Sigma catalog number 99011801)" []	1144311	\N	\N	EFO	3	EFO	material entity	MDST8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006644	"human colon carcinoma cell line establlished from human colorectal tumor explants (Sigma catalog number 99011801)" []	2026929	\N	\N	EFO	4	EFO	experimental factor	MDST8
EFO:0006645	\N	\N	"human acute myeloid leukemia cell line established from the peripheral blood of a 40-year-old Japanese man with acute myeloid leukemia (AML) FAB M4eo at second relapse in 1988 (DSMZ catalog number ACC 357)" []	EFO:0006645	"human acute myeloid leukemia cell line established from the peripheral blood of a 40-year-old Japanese man with acute myeloid leukemia (AML) FAB M4eo at second relapse in 1988 (DSMZ catalog number ACC 357)" []	67920	\N	\N	EFO	0	EFO	ME-1	ME-1
EFO:0002888	EFO:0006645	\N	"" []	EFO:0006645	"human acute myeloid leukemia cell line established from the peripheral blood of a 40-year-old Japanese man with acute myeloid leukemia (AML) FAB M4eo at second relapse in 1988 (DSMZ catalog number ACC 357)" []	209812	\N	\N	EFO	1	EFO	Homo sapiens cell line	ME-1
EFO:0002937	EFO:0006645	\N	"" []	EFO:0006645	"human acute myeloid leukemia cell line established from the peripheral blood of a 40-year-old Japanese man with acute myeloid leukemia (AML) FAB M4eo at second relapse in 1988 (DSMZ catalog number ACC 357)" []	209813	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	ME-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006645	"human acute myeloid leukemia cell line established from the peripheral blood of a 40-year-old Japanese man with acute myeloid leukemia (AML) FAB M4eo at second relapse in 1988 (DSMZ catalog number ACC 357)" []	562992	\N	\N	EFO	2	EFO	cell line	ME-1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006645	"human acute myeloid leukemia cell line established from the peripheral blood of a 40-year-old Japanese man with acute myeloid leukemia (AML) FAB M4eo at second relapse in 1988 (DSMZ catalog number ACC 357)" []	562993	\N	\N	EFO	2	EFO	cancer cell line	ME-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006645	"human acute myeloid leukemia cell line established from the peripheral blood of a 40-year-old Japanese man with acute myeloid leukemia (AML) FAB M4eo at second relapse in 1988 (DSMZ catalog number ACC 357)" []	2026931	\N	\N	EFO	4	EFO	material entity	ME-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006645	"human acute myeloid leukemia cell line established from the peripheral blood of a 40-year-old Japanese man with acute myeloid leukemia (AML) FAB M4eo at second relapse in 1988 (DSMZ catalog number ACC 357)" []	1144313	\N	\N	EFO	3	EFO	cell line	ME-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006645	"human acute myeloid leukemia cell line established from the peripheral blood of a 40-year-old Japanese man with acute myeloid leukemia (AML) FAB M4eo at second relapse in 1988 (DSMZ catalog number ACC 357)" []	2999745	\N	\N	EFO	5	EFO	experimental factor	ME-1
EFO:0006646	\N	\N	"human epidermoid carcinoma cell line from a 66 year old Caucasian female (ATCC HTB-33)" []	EFO:0006646	"human epidermoid carcinoma cell line from a 66 year old Caucasian female (ATCC HTB-33)" []	67921	\N	\N	EFO	0	EFO	ME-180	ME-180
EFO:0001639	EFO:0006646	\N	"" []	EFO:0006646	"human epidermoid carcinoma cell line from a 66 year old Caucasian female (ATCC HTB-33)" []	209814	\N	\N	EFO	1	EFO	cancer cell line	ME-180
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006646	"human epidermoid carcinoma cell line from a 66 year old Caucasian female (ATCC HTB-33)" []	562994	\N	\N	EFO	2	EFO	cell line	ME-180
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006646	"human epidermoid carcinoma cell line from a 66 year old Caucasian female (ATCC HTB-33)" []	1144314	\N	\N	EFO	3	EFO	material entity	ME-180
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006646	"human epidermoid carcinoma cell line from a 66 year old Caucasian female (ATCC HTB-33)" []	2026932	\N	\N	EFO	4	EFO	experimental factor	ME-180
EFO:0006647	\N	\N	"human skin melanoma cell line established from the primary tumor of a woman with melanoma in 1976 (DSMZ catalog number ACC 62)" []	EFO:0006647	"human skin melanoma cell line established from the primary tumor of a woman with melanoma in 1976 (DSMZ catalog number ACC 62)" []	67922	\N	\N	EFO	0	EFO	MEL-HO	MEL-HO
BTO:0000849	EFO:0006647	\N	"" []	EFO:0006647	"human skin melanoma cell line established from the primary tumor of a woman with melanoma in 1976 (DSMZ catalog number ACC 62)" []	209815	\N	\N	EFO	1	EFO	melanoma cell line	MEL-HO
EFO:0001641	EFO:0006647	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006647	"human skin melanoma cell line established from the primary tumor of a woman with melanoma in 1976 (DSMZ catalog number ACC 62)" []	209816	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MEL-HO
EFO:0002888	EFO:0006647	\N	"" []	EFO:0006647	"human skin melanoma cell line established from the primary tumor of a woman with melanoma in 1976 (DSMZ catalog number ACC 62)" []	209817	\N	\N	EFO	1	EFO	Homo sapiens cell line	MEL-HO
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006647	"human skin melanoma cell line established from the primary tumor of a woman with melanoma in 1976 (DSMZ catalog number ACC 62)" []	562995	\N	\N	EFO	2	EFO	cancer cell line	MEL-HO
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006647	"human skin melanoma cell line established from the primary tumor of a woman with melanoma in 1976 (DSMZ catalog number ACC 62)" []	562996	\N	\N	EFO	2	EFO	cell line	MEL-HO
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006647	"human skin melanoma cell line established from the primary tumor of a woman with melanoma in 1976 (DSMZ catalog number ACC 62)" []	562997	\N	\N	EFO	2	EFO	cell line	MEL-HO
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006647	"human skin melanoma cell line established from the primary tumor of a woman with melanoma in 1976 (DSMZ catalog number ACC 62)" []	1144315	\N	\N	EFO	3	EFO	cell line	MEL-HO
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006647	"human skin melanoma cell line established from the primary tumor of a woman with melanoma in 1976 (DSMZ catalog number ACC 62)" []	2026933	\N	\N	EFO	4	EFO	material entity	MEL-HO
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006647	"human skin melanoma cell line established from the primary tumor of a woman with melanoma in 1976 (DSMZ catalog number ACC 62)" []	2999746	\N	\N	EFO	5	EFO	experimental factor	MEL-HO
EFO:0006648	\N	\N	"human skin melanoma cell line from a 78 year old Caucasian male" []	EFO:0006648	"human skin melanoma cell line from a 78 year old Caucasian male" []	67923	\N	\N	EFO	0	EFO	MeWo	MeWo
BTO:0000849	EFO:0006648	\N	"" []	EFO:0006648	"human skin melanoma cell line from a 78 year old Caucasian male" []	209818	\N	\N	EFO	1	EFO	melanoma cell line	MeWo
EFO:0002009	EFO:0006648	\N	"" []	EFO:0006648	"human skin melanoma cell line from a 78 year old Caucasian male" []	209819	\N	\N	EFO	1	EFO	fibroblast derived cell line	MeWo
EFO:0002888	EFO:0006648	\N	"" []	EFO:0006648	"human skin melanoma cell line from a 78 year old Caucasian male" []	209820	\N	\N	EFO	1	EFO	Homo sapiens cell line	MeWo
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006648	"human skin melanoma cell line from a 78 year old Caucasian male" []	562998	\N	\N	EFO	2	EFO	cancer cell line	MeWo
EFO:0000322	EFO:0002009	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006648	"human skin melanoma cell line from a 78 year old Caucasian male" []	562999	\N	\N	EFO	2	EFO	cell line	MeWo
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006648	"human skin melanoma cell line from a 78 year old Caucasian male" []	563000	\N	\N	EFO	2	EFO	cell line	MeWo
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006648	"human skin melanoma cell line from a 78 year old Caucasian male" []	1144317	\N	\N	EFO	3	EFO	cell line	MeWo
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006648	"human skin melanoma cell line from a 78 year old Caucasian male" []	2026935	\N	\N	EFO	4	EFO	material entity	MeWo
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006648	"human skin melanoma cell line from a 78 year old Caucasian male" []	2999747	\N	\N	EFO	5	EFO	experimental factor	MeWo
EFO:0006649	\N	\N	"human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" []	EFO:0006649	"human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" []	67924	\N	\N	EFO	0	EFO	MFM-223	MFM-223
EFO:0001641	EFO:0006649	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006649	"human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" []	209821	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MFM-223
EFO:0002888	EFO:0006649	\N	"" []	EFO:0006649	"human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" []	209822	\N	\N	EFO	1	EFO	Homo sapiens cell line	MFM-223
EFO:0005215	EFO:0006649	\N	"A cell line which is a model for breast adenocarcinoma." []	EFO:0006649	"human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" []	209823	\N	\N	EFO	1	EFO	breast adenocarcinoma cell line	MFM-223
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006649	"human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" []	563001	\N	\N	EFO	2	EFO	cell line	MFM-223
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006649	"human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" []	563002	\N	\N	EFO	2	EFO	cell line	MFM-223
EFO:0002885	EFO:0005215	\N	"" []	EFO:0006649	"human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" []	563003	\N	\N	EFO	2	EFO	breast cancer cell line	MFM-223
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006649	"human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" []	3178724	\N	\N	EFO	5	EFO	material entity	MFM-223
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006649	"human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" []	1144320	\N	\N	EFO	3	EFO	cancer cell line	MFM-223
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006649	"human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" []	4066722	\N	\N	EFO	6	EFO	experimental factor	MFM-223
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006649	"human mammary carcinoma cell line obtained from the pleural effusion of a postmenopausal breast cancer patient (Sigma catalog number 98050130)" []	2026938	\N	\N	EFO	4	EFO	cell line	MFM-223
EFO:0006650	\N	\N	"human Ewings' sarcoma cell line established from the ascites of a 12-year-old Turkish boy with Ewing's sarcoma of the left pelvis (with peritoneal metastasis) (DSMZ catalog number ACC 167)" []	EFO:0006650	"human Ewings' sarcoma cell line established from the ascites of a 12-year-old Turkish boy with Ewing's sarcoma of the left pelvis (with peritoneal metastasis) (DSMZ catalog number ACC 167)" []	67925	\N	\N	EFO	0	EFO	MHH-ES-1	MHH-ES-1
EFO:0001639	EFO:0006650	\N	"" []	EFO:0006650	"human Ewings' sarcoma cell line established from the ascites of a 12-year-old Turkish boy with Ewing's sarcoma of the left pelvis (with peritoneal metastasis) (DSMZ catalog number ACC 167)" []	209824	\N	\N	EFO	1	EFO	cancer cell line	MHH-ES-1
EFO:0002888	EFO:0006650	\N	"" []	EFO:0006650	"human Ewings' sarcoma cell line established from the ascites of a 12-year-old Turkish boy with Ewing's sarcoma of the left pelvis (with peritoneal metastasis) (DSMZ catalog number ACC 167)" []	209825	\N	\N	EFO	1	EFO	Homo sapiens cell line	MHH-ES-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006650	"human Ewings' sarcoma cell line established from the ascites of a 12-year-old Turkish boy with Ewing's sarcoma of the left pelvis (with peritoneal metastasis) (DSMZ catalog number ACC 167)" []	563004	\N	\N	EFO	2	EFO	cell line	MHH-ES-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006650	"human Ewings' sarcoma cell line established from the ascites of a 12-year-old Turkish boy with Ewing's sarcoma of the left pelvis (with peritoneal metastasis) (DSMZ catalog number ACC 167)" []	563005	\N	\N	EFO	2	EFO	cell line	MHH-ES-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006650	"human Ewings' sarcoma cell line established from the ascites of a 12-year-old Turkish boy with Ewing's sarcoma of the left pelvis (with peritoneal metastasis) (DSMZ catalog number ACC 167)" []	1144321	\N	\N	EFO	3	EFO	material entity	MHH-ES-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006650	"human Ewings' sarcoma cell line established from the ascites of a 12-year-old Turkish boy with Ewing's sarcoma of the left pelvis (with peritoneal metastasis) (DSMZ catalog number ACC 167)" []	2026939	\N	\N	EFO	4	EFO	experimental factor	MHH-ES-1
EFO:0006651	\N	\N	"human brain neuroblastoma cell line established from a neuroblastoma metastasis at an adrenal site of a 4-year-old white boy in 1986 (DSMZ catalog number ACC 157)" []	EFO:0006651	"human brain neuroblastoma cell line established from a neuroblastoma metastasis at an adrenal site of a 4-year-old white boy in 1986 (DSMZ catalog number ACC 157)" []	67926	\N	\N	EFO	0	EFO	MHH-NB-11	MHH-NB-11
EFO:0002888	EFO:0006651	\N	"" []	EFO:0006651	"human brain neuroblastoma cell line established from a neuroblastoma metastasis at an adrenal site of a 4-year-old white boy in 1986 (DSMZ catalog number ACC 157)" []	209826	\N	\N	EFO	1	EFO	Homo sapiens cell line	MHH-NB-11
EFO:0005214	EFO:0006651	\N	"A cell line which is a model for neuroblastoma." []	EFO:0006651	"human brain neuroblastoma cell line established from a neuroblastoma metastasis at an adrenal site of a 4-year-old white boy in 1986 (DSMZ catalog number ACC 157)" []	209827	\N	\N	EFO	1	EFO	neuroblastoma cell line	MHH-NB-11
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006651	"human brain neuroblastoma cell line established from a neuroblastoma metastasis at an adrenal site of a 4-year-old white boy in 1986 (DSMZ catalog number ACC 157)" []	563006	\N	\N	EFO	2	EFO	cell line	MHH-NB-11
EFO:0000322	EFO:0005214	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006651	"human brain neuroblastoma cell line established from a neuroblastoma metastasis at an adrenal site of a 4-year-old white boy in 1986 (DSMZ catalog number ACC 157)" []	563007	\N	\N	EFO	2	EFO	cell line	MHH-NB-11
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006651	"human brain neuroblastoma cell line established from a neuroblastoma metastasis at an adrenal site of a 4-year-old white boy in 1986 (DSMZ catalog number ACC 157)" []	1144322	\N	\N	EFO	3	EFO	material entity	MHH-NB-11
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006651	"human brain neuroblastoma cell line established from a neuroblastoma metastasis at an adrenal site of a 4-year-old white boy in 1986 (DSMZ catalog number ACC 157)" []	2026940	\N	\N	EFO	4	EFO	experimental factor	MHH-NB-11
EFO:0006652	\N	\N	"human acute myeloid leukemia cell line established in 1999 from the peripheral blood of a 77-year-old Japanese woman at relapse of acute myeloid leukemia (DSMZ catalog number ACC 555)" []	EFO:0006652	"human acute myeloid leukemia cell line established in 1999 from the peripheral blood of a 77-year-old Japanese woman at relapse of acute myeloid leukemia (DSMZ catalog number ACC 555)" []	67927	\N	\N	EFO	0	EFO	MOLM-16	MOLM-16
EFO:0002888	EFO:0006652	\N	"" []	EFO:0006652	"human acute myeloid leukemia cell line established in 1999 from the peripheral blood of a 77-year-old Japanese woman at relapse of acute myeloid leukemia (DSMZ catalog number ACC 555)" []	209828	\N	\N	EFO	1	EFO	Homo sapiens cell line	MOLM-16
EFO:0002937	EFO:0006652	\N	"" []	EFO:0006652	"human acute myeloid leukemia cell line established in 1999 from the peripheral blood of a 77-year-old Japanese woman at relapse of acute myeloid leukemia (DSMZ catalog number ACC 555)" []	209829	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	MOLM-16
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006652	"human acute myeloid leukemia cell line established in 1999 from the peripheral blood of a 77-year-old Japanese woman at relapse of acute myeloid leukemia (DSMZ catalog number ACC 555)" []	563008	\N	\N	EFO	2	EFO	cell line	MOLM-16
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006652	"human acute myeloid leukemia cell line established in 1999 from the peripheral blood of a 77-year-old Japanese woman at relapse of acute myeloid leukemia (DSMZ catalog number ACC 555)" []	563009	\N	\N	EFO	2	EFO	cancer cell line	MOLM-16
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006652	"human acute myeloid leukemia cell line established in 1999 from the peripheral blood of a 77-year-old Japanese woman at relapse of acute myeloid leukemia (DSMZ catalog number ACC 555)" []	2026942	\N	\N	EFO	4	EFO	material entity	MOLM-16
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006652	"human acute myeloid leukemia cell line established in 1999 from the peripheral blood of a 77-year-old Japanese woman at relapse of acute myeloid leukemia (DSMZ catalog number ACC 555)" []	1144324	\N	\N	EFO	3	EFO	cell line	MOLM-16
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006652	"human acute myeloid leukemia cell line established in 1999 from the peripheral blood of a 77-year-old Japanese woman at relapse of acute myeloid leukemia (DSMZ catalog number ACC 555)" []	2999748	\N	\N	EFO	5	EFO	experimental factor	MOLM-16
EFO:0006653	\N	\N	"human multiple myeloma cell line established from the peripheral blood of a 55-year-old man with IgD lambda type multiple myeloma in 1991 (DSMZ catalog number ACC 607)" []	EFO:0006653	"human multiple myeloma cell line established from the peripheral blood of a 55-year-old man with IgD lambda type multiple myeloma in 1991 (DSMZ catalog number ACC 607)" []	67928	\N	\N	EFO	0	EFO	MOLP-2	MOLP-2
EFO:0001639	EFO:0006653	\N	"" []	EFO:0006653	"human multiple myeloma cell line established from the peripheral blood of a 55-year-old man with IgD lambda type multiple myeloma in 1991 (DSMZ catalog number ACC 607)" []	209830	\N	\N	EFO	1	EFO	cancer cell line	MOLP-2
EFO:0002888	EFO:0006653	\N	"" []	EFO:0006653	"human multiple myeloma cell line established from the peripheral blood of a 55-year-old man with IgD lambda type multiple myeloma in 1991 (DSMZ catalog number ACC 607)" []	209831	\N	\N	EFO	1	EFO	Homo sapiens cell line	MOLP-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006653	"human multiple myeloma cell line established from the peripheral blood of a 55-year-old man with IgD lambda type multiple myeloma in 1991 (DSMZ catalog number ACC 607)" []	563010	\N	\N	EFO	2	EFO	cell line	MOLP-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006653	"human multiple myeloma cell line established from the peripheral blood of a 55-year-old man with IgD lambda type multiple myeloma in 1991 (DSMZ catalog number ACC 607)" []	563011	\N	\N	EFO	2	EFO	cell line	MOLP-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006653	"human multiple myeloma cell line established from the peripheral blood of a 55-year-old man with IgD lambda type multiple myeloma in 1991 (DSMZ catalog number ACC 607)" []	1144325	\N	\N	EFO	3	EFO	material entity	MOLP-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006653	"human multiple myeloma cell line established from the peripheral blood of a 55-year-old man with IgD lambda type multiple myeloma in 1991 (DSMZ catalog number ACC 607)" []	2026943	\N	\N	EFO	4	EFO	experimental factor	MOLP-2
EFO:0006654	\N	\N	"human multiple myeloma cell line established from the peripheral blood of a 52-year-old Japanese man with multiple myeloma (stage IIIA, type IgD lambda) in 2002 (DSMZ catalog number ACC 569)" []	EFO:0006654	"human multiple myeloma cell line established from the peripheral blood of a 52-year-old Japanese man with multiple myeloma (stage IIIA, type IgD lambda) in 2002 (DSMZ catalog number ACC 569)" []	67929	\N	\N	EFO	0	EFO	MOLP-8	MOLP-8
EFO:0001639	EFO:0006654	\N	"" []	EFO:0006654	"human multiple myeloma cell line established from the peripheral blood of a 52-year-old Japanese man with multiple myeloma (stage IIIA, type IgD lambda) in 2002 (DSMZ catalog number ACC 569)" []	209832	\N	\N	EFO	1	EFO	cancer cell line	MOLP-8
EFO:0002888	EFO:0006654	\N	"" []	EFO:0006654	"human multiple myeloma cell line established from the peripheral blood of a 52-year-old Japanese man with multiple myeloma (stage IIIA, type IgD lambda) in 2002 (DSMZ catalog number ACC 569)" []	209833	\N	\N	EFO	1	EFO	Homo sapiens cell line	MOLP-8
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006654	"human multiple myeloma cell line established from the peripheral blood of a 52-year-old Japanese man with multiple myeloma (stage IIIA, type IgD lambda) in 2002 (DSMZ catalog number ACC 569)" []	563012	\N	\N	EFO	2	EFO	cell line	MOLP-8
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006654	"human multiple myeloma cell line established from the peripheral blood of a 52-year-old Japanese man with multiple myeloma (stage IIIA, type IgD lambda) in 2002 (DSMZ catalog number ACC 569)" []	563013	\N	\N	EFO	2	EFO	cell line	MOLP-8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006654	"human multiple myeloma cell line established from the peripheral blood of a 52-year-old Japanese man with multiple myeloma (stage IIIA, type IgD lambda) in 2002 (DSMZ catalog number ACC 569)" []	1144326	\N	\N	EFO	3	EFO	material entity	MOLP-8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006654	"human multiple myeloma cell line established from the peripheral blood of a 52-year-old Japanese man with multiple myeloma (stage IIIA, type IgD lambda) in 2002 (DSMZ catalog number ACC 569)" []	2026944	\N	\N	EFO	4	EFO	experimental factor	MOLP-8
EFO:0006655	\N	\N	"human lung adenocarcinoma cell line (Sigma catalog number 84112312)" []	EFO:0006655	"human lung adenocarcinoma cell line (Sigma catalog number 84112312)" []	67930	\N	\N	EFO	0	EFO	MOR	MOR
EFO:0001641	EFO:0006655	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006655	"human lung adenocarcinoma cell line (Sigma catalog number 84112312)" []	209834	\N	\N	EFO	1	EFO	epithelial cell derived cell line	MOR
EFO:0002888	EFO:0006655	\N	"" []	EFO:0006655	"human lung adenocarcinoma cell line (Sigma catalog number 84112312)" []	209835	\N	\N	EFO	1	EFO	Homo sapiens cell line	MOR
EFO:0002934	EFO:0006655	\N	"" []	EFO:0006655	"human lung adenocarcinoma cell line (Sigma catalog number 84112312)" []	209836	\N	\N	EFO	1	EFO	lung cancer cell line	MOR
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006655	"human lung adenocarcinoma cell line (Sigma catalog number 84112312)" []	563014	\N	\N	EFO	2	EFO	cell line	MOR
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006655	"human lung adenocarcinoma cell line (Sigma catalog number 84112312)" []	563015	\N	\N	EFO	2	EFO	cell line	MOR
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006655	"human lung adenocarcinoma cell line (Sigma catalog number 84112312)" []	563016	\N	\N	EFO	2	EFO	cancer cell line	MOR
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006655	"human lung adenocarcinoma cell line (Sigma catalog number 84112312)" []	2026946	\N	\N	EFO	4	EFO	material entity	MOR
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006655	"human lung adenocarcinoma cell line (Sigma catalog number 84112312)" []	1144328	\N	\N	EFO	3	EFO	cell line	MOR
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006655	"human lung adenocarcinoma cell line (Sigma catalog number 84112312)" []	2999749	\N	\N	EFO	5	EFO	experimental factor	MOR
EFO:0006656	\N	\N	"mouse cell line produced from pancreatic islets isolated from juvenile but not aging adult mice, when infected with a retrovirus carrying polyomavirus middle T oncogene" []	EFO:0006656	"mouse cell line produced from pancreatic islets isolated from juvenile but not aging adult mice, when infected with a retrovirus carrying polyomavirus middle T oncogene" []	67931	\N	\N	EFO	0	EFO	mPAC L20	mPAC L20
EFO:0001639	EFO:0006656	\N	"" []	EFO:0006656	"mouse cell line produced from pancreatic islets isolated from juvenile but not aging adult mice, when infected with a retrovirus carrying polyomavirus middle T oncogene" []	209837	\N	\N	EFO	1	EFO	cancer cell line	mPAC L20
EFO:0002887	EFO:0006656	\N	"Cell lines derived from mice." []	EFO:0006656	"mouse cell line produced from pancreatic islets isolated from juvenile but not aging adult mice, when infected with a retrovirus carrying polyomavirus middle T oncogene" []	209838	\N	\N	EFO	1	EFO	mouse cell line	mPAC L20
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006656	"mouse cell line produced from pancreatic islets isolated from juvenile but not aging adult mice, when infected with a retrovirus carrying polyomavirus middle T oncogene" []	563017	\N	\N	EFO	2	EFO	cell line	mPAC L20
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006656	"mouse cell line produced from pancreatic islets isolated from juvenile but not aging adult mice, when infected with a retrovirus carrying polyomavirus middle T oncogene" []	563018	\N	\N	EFO	2	EFO	cell line	mPAC L20
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006656	"mouse cell line produced from pancreatic islets isolated from juvenile but not aging adult mice, when infected with a retrovirus carrying polyomavirus middle T oncogene" []	1144329	\N	\N	EFO	3	EFO	material entity	mPAC L20
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006656	"mouse cell line produced from pancreatic islets isolated from juvenile but not aging adult mice, when infected with a retrovirus carrying polyomavirus middle T oncogene" []	2026947	\N	\N	EFO	4	EFO	experimental factor	mPAC L20
EFO:0006657	\N	\N	"human lung adenocarcinoma cell line from a 56 year old African male" []	EFO:0006657	"human lung adenocarcinoma cell line from a 56 year old African male" []	67932	\N	\N	EFO	0	EFO	NCI-H1373	NCI-H1373
EFO:0001641	EFO:0006657	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006657	"human lung adenocarcinoma cell line from a 56 year old African male" []	209839	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H1373
EFO:0002888	EFO:0006657	\N	"" []	EFO:0006657	"human lung adenocarcinoma cell line from a 56 year old African male" []	209840	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1373
EFO:0002934	EFO:0006657	\N	"" []	EFO:0006657	"human lung adenocarcinoma cell line from a 56 year old African male" []	209841	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1373
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006657	"human lung adenocarcinoma cell line from a 56 year old African male" []	563019	\N	\N	EFO	2	EFO	cell line	NCI-H1373
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006657	"human lung adenocarcinoma cell line from a 56 year old African male" []	563020	\N	\N	EFO	2	EFO	cell line	NCI-H1373
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006657	"human lung adenocarcinoma cell line from a 56 year old African male" []	563021	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1373
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006657	"human lung adenocarcinoma cell line from a 56 year old African male" []	2026949	\N	\N	EFO	4	EFO	material entity	NCI-H1373
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006657	"human lung adenocarcinoma cell line from a 56 year old African male" []	1144331	\N	\N	EFO	3	EFO	cell line	NCI-H1373
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006657	"human lung adenocarcinoma cell line from a 56 year old African male" []	2999750	\N	\N	EFO	5	EFO	experimental factor	NCI-H1373
EFO:0006658	\N	\N	"human non-small cell lung carcinoma cell line from a 35 year old female (ATCC CRL-5870)" []	EFO:0006658	"human non-small cell lung carcinoma cell line from a 35 year old female (ATCC CRL-5870)" []	67933	\N	\N	EFO	0	EFO	NCI-H1435	NCI-H1435
EFO:0002888	EFO:0006658	\N	"" []	EFO:0006658	"human non-small cell lung carcinoma cell line from a 35 year old female (ATCC CRL-5870)" []	209842	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1435
EFO:0002934	EFO:0006658	\N	"" []	EFO:0006658	"human non-small cell lung carcinoma cell line from a 35 year old female (ATCC CRL-5870)" []	209843	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1435
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006658	"human non-small cell lung carcinoma cell line from a 35 year old female (ATCC CRL-5870)" []	563022	\N	\N	EFO	2	EFO	cell line	NCI-H1435
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006658	"human non-small cell lung carcinoma cell line from a 35 year old female (ATCC CRL-5870)" []	563023	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1435
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006658	"human non-small cell lung carcinoma cell line from a 35 year old female (ATCC CRL-5870)" []	2026951	\N	\N	EFO	4	EFO	material entity	NCI-H1435
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006658	"human non-small cell lung carcinoma cell line from a 35 year old female (ATCC CRL-5870)" []	1144333	\N	\N	EFO	3	EFO	cell line	NCI-H1435
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006658	"human non-small cell lung carcinoma cell line from a 35 year old female (ATCC CRL-5870)" []	2999751	\N	\N	EFO	5	EFO	experimental factor	NCI-H1435
EFO:0006659	\N	\N	"human small cell lung carcinoma cell line established from a 59 year old Caucasian male (ATCC HTB-173)" []	EFO:0006659	"human small cell lung carcinoma cell line established from a 59 year old Caucasian male (ATCC HTB-173)" []	67934	\N	\N	EFO	0	EFO	NCI-H146	NCI-H146
EFO:0001641	EFO:0006659	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006659	"human small cell lung carcinoma cell line established from a 59 year old Caucasian male (ATCC HTB-173)" []	209844	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H146
EFO:0002888	EFO:0006659	\N	"" []	EFO:0006659	"human small cell lung carcinoma cell line established from a 59 year old Caucasian male (ATCC HTB-173)" []	209845	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H146
EFO:0002934	EFO:0006659	\N	"" []	EFO:0006659	"human small cell lung carcinoma cell line established from a 59 year old Caucasian male (ATCC HTB-173)" []	209846	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H146
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006659	"human small cell lung carcinoma cell line established from a 59 year old Caucasian male (ATCC HTB-173)" []	563024	\N	\N	EFO	2	EFO	cell line	NCI-H146
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006659	"human small cell lung carcinoma cell line established from a 59 year old Caucasian male (ATCC HTB-173)" []	563025	\N	\N	EFO	2	EFO	cell line	NCI-H146
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006659	"human small cell lung carcinoma cell line established from a 59 year old Caucasian male (ATCC HTB-173)" []	563026	\N	\N	EFO	2	EFO	cancer cell line	NCI-H146
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006659	"human small cell lung carcinoma cell line established from a 59 year old Caucasian male (ATCC HTB-173)" []	2026953	\N	\N	EFO	4	EFO	material entity	NCI-H146
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006659	"human small cell lung carcinoma cell line established from a 59 year old Caucasian male (ATCC HTB-173)" []	1144335	\N	\N	EFO	3	EFO	cell line	NCI-H146
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006659	"human small cell lung carcinoma cell line established from a 59 year old Caucasian male (ATCC HTB-173)" []	2999752	\N	\N	EFO	5	EFO	experimental factor	NCI-H146
EFO:0006660	\N	\N	"human non-small cell lung carcinoma cell line from a 48 year old Caucasian female (ATCC CRL-5876)" []	EFO:0006660	"human non-small cell lung carcinoma cell line from a 48 year old Caucasian female (ATCC CRL-5876)" []	67935	\N	\N	EFO	0	EFO	NCI-H1568	NCI-H1568
EFO:0002888	EFO:0006660	\N	"" []	EFO:0006660	"human non-small cell lung carcinoma cell line from a 48 year old Caucasian female (ATCC CRL-5876)" []	209847	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1568
EFO:0002934	EFO:0006660	\N	"" []	EFO:0006660	"human non-small cell lung carcinoma cell line from a 48 year old Caucasian female (ATCC CRL-5876)" []	209848	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1568
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006660	"human non-small cell lung carcinoma cell line from a 48 year old Caucasian female (ATCC CRL-5876)" []	563027	\N	\N	EFO	2	EFO	cell line	NCI-H1568
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006660	"human non-small cell lung carcinoma cell line from a 48 year old Caucasian female (ATCC CRL-5876)" []	563028	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1568
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006660	"human non-small cell lung carcinoma cell line from a 48 year old Caucasian female (ATCC CRL-5876)" []	2026955	\N	\N	EFO	4	EFO	material entity	NCI-H1568
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006660	"human non-small cell lung carcinoma cell line from a 48 year old Caucasian female (ATCC CRL-5876)" []	1144337	\N	\N	EFO	3	EFO	cell line	NCI-H1568
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006660	"human non-small cell lung carcinoma cell line from a 48 year old Caucasian female (ATCC CRL-5876)" []	2999753	\N	\N	EFO	5	EFO	experimental factor	NCI-H1568
EFO:0006661	\N	\N	"human non-small cell lung carcinoma cell line from a 55 year old Caucasian female (ATCC CRL-5887)" []	EFO:0006661	"human non-small cell lung carcinoma cell line from a 55 year old Caucasian female (ATCC CRL-5887)" []	67936	\N	\N	EFO	0	EFO	NCI-H1693	NCI-H1693
EFO:0001641	EFO:0006661	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006661	"human non-small cell lung carcinoma cell line from a 55 year old Caucasian female (ATCC CRL-5887)" []	209849	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H1693
EFO:0002888	EFO:0006661	\N	"" []	EFO:0006661	"human non-small cell lung carcinoma cell line from a 55 year old Caucasian female (ATCC CRL-5887)" []	209850	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1693
EFO:0002934	EFO:0006661	\N	"" []	EFO:0006661	"human non-small cell lung carcinoma cell line from a 55 year old Caucasian female (ATCC CRL-5887)" []	209851	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1693
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006661	"human non-small cell lung carcinoma cell line from a 55 year old Caucasian female (ATCC CRL-5887)" []	563029	\N	\N	EFO	2	EFO	cell line	NCI-H1693
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006661	"human non-small cell lung carcinoma cell line from a 55 year old Caucasian female (ATCC CRL-5887)" []	563030	\N	\N	EFO	2	EFO	cell line	NCI-H1693
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006661	"human non-small cell lung carcinoma cell line from a 55 year old Caucasian female (ATCC CRL-5887)" []	563031	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1693
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006661	"human non-small cell lung carcinoma cell line from a 55 year old Caucasian female (ATCC CRL-5887)" []	2026957	\N	\N	EFO	4	EFO	material entity	NCI-H1693
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006661	"human non-small cell lung carcinoma cell line from a 55 year old Caucasian female (ATCC CRL-5887)" []	1144339	\N	\N	EFO	3	EFO	cell line	NCI-H1693
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006661	"human non-small cell lung carcinoma cell line from a 55 year old Caucasian female (ATCC CRL-5887)" []	2999754	\N	\N	EFO	5	EFO	experimental factor	NCI-H1693
EFO:0006662	\N	\N	"human non-small cell lung carcinoma cell line from a 56 year old female (ATCC CRL-5891)" []	EFO:0006662	"human non-small cell lung carcinoma cell line from a 56 year old female (ATCC CRL-5891)" []	67937	\N	\N	EFO	0	EFO	NCI-H1734	NCI-H1734
EFO:0001641	EFO:0006662	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006662	"human non-small cell lung carcinoma cell line from a 56 year old female (ATCC CRL-5891)" []	209852	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H1734
EFO:0002888	EFO:0006662	\N	"" []	EFO:0006662	"human non-small cell lung carcinoma cell line from a 56 year old female (ATCC CRL-5891)" []	209853	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1734
EFO:0002934	EFO:0006662	\N	"" []	EFO:0006662	"human non-small cell lung carcinoma cell line from a 56 year old female (ATCC CRL-5891)" []	209854	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1734
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006662	"human non-small cell lung carcinoma cell line from a 56 year old female (ATCC CRL-5891)" []	563032	\N	\N	EFO	2	EFO	cell line	NCI-H1734
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006662	"human non-small cell lung carcinoma cell line from a 56 year old female (ATCC CRL-5891)" []	563033	\N	\N	EFO	2	EFO	cell line	NCI-H1734
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006662	"human non-small cell lung carcinoma cell line from a 56 year old female (ATCC CRL-5891)" []	563034	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1734
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006662	"human non-small cell lung carcinoma cell line from a 56 year old female (ATCC CRL-5891)" []	2026959	\N	\N	EFO	4	EFO	material entity	NCI-H1734
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006662	"human non-small cell lung carcinoma cell line from a 56 year old female (ATCC CRL-5891)" []	1144341	\N	\N	EFO	3	EFO	cell line	NCI-H1734
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006662	"human non-small cell lung carcinoma cell line from a 56 year old female (ATCC CRL-5891)" []	2999755	\N	\N	EFO	5	EFO	experimental factor	NCI-H1734
EFO:0006663	\N	\N	"human lung adenocarcinoma cell line from a 66 year old Caucasian female (ATCC CRL-5894)" []	EFO:0006663	"human lung adenocarcinoma cell line from a 66 year old Caucasian female (ATCC CRL-5894)" []	67938	\N	\N	EFO	0	EFO	NCI-H1781	NCI-H1781
EFO:0002888	EFO:0006663	\N	"" []	EFO:0006663	"human lung adenocarcinoma cell line from a 66 year old Caucasian female (ATCC CRL-5894)" []	209855	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1781
EFO:0002934	EFO:0006663	\N	"" []	EFO:0006663	"human lung adenocarcinoma cell line from a 66 year old Caucasian female (ATCC CRL-5894)" []	209856	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1781
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006663	"human lung adenocarcinoma cell line from a 66 year old Caucasian female (ATCC CRL-5894)" []	563035	\N	\N	EFO	2	EFO	cell line	NCI-H1781
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006663	"human lung adenocarcinoma cell line from a 66 year old Caucasian female (ATCC CRL-5894)" []	563036	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1781
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006663	"human lung adenocarcinoma cell line from a 66 year old Caucasian female (ATCC CRL-5894)" []	2026961	\N	\N	EFO	4	EFO	material entity	NCI-H1781
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006663	"human lung adenocarcinoma cell line from a 66 year old Caucasian female (ATCC CRL-5894)" []	1144343	\N	\N	EFO	3	EFO	cell line	NCI-H1781
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006663	"human lung adenocarcinoma cell line from a 66 year old Caucasian female (ATCC CRL-5894)" []	2999756	\N	\N	EFO	5	EFO	experimental factor	NCI-H1781
EFO:0006664	\N	\N	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male ATCC CRL-5900)" []	EFO:0006664	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male ATCC CRL-5900)" []	67939	\N	\N	EFO	0	EFO	NCI-H1869	NCI-H1869
EFO:0002888	EFO:0006664	\N	"" []	EFO:0006664	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male ATCC CRL-5900)" []	209857	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1869
EFO:0002934	EFO:0006664	\N	"" []	EFO:0006664	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male ATCC CRL-5900)" []	209858	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1869
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006664	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male ATCC CRL-5900)" []	563037	\N	\N	EFO	2	EFO	cell line	NCI-H1869
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006664	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male ATCC CRL-5900)" []	563038	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1869
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006664	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male ATCC CRL-5900)" []	2026963	\N	\N	EFO	4	EFO	material entity	NCI-H1869
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006664	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male ATCC CRL-5900)" []	1144345	\N	\N	EFO	3	EFO	cell line	NCI-H1869
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006664	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male ATCC CRL-5900)" []	2999757	\N	\N	EFO	5	EFO	experimental factor	NCI-H1869
EFO:0006665	\N	\N	"human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" []	EFO:0006665	"human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" []	67940	\N	\N	EFO	0	EFO	NCI-H1882	NCI-H1882
EFO:0001641	EFO:0006665	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006665	"human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" []	209859	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H1882
EFO:0002888	EFO:0006665	\N	"" []	EFO:0006665	"human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" []	209860	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1882
EFO:0002934	EFO:0006665	\N	"" []	EFO:0006665	"human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" []	209861	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1882
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006665	"human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" []	563039	\N	\N	EFO	2	EFO	cell line	NCI-H1882
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006665	"human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" []	563040	\N	\N	EFO	2	EFO	cell line	NCI-H1882
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006665	"human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" []	563041	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1882
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006665	"human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" []	2026965	\N	\N	EFO	4	EFO	material entity	NCI-H1882
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006665	"human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" []	1144347	\N	\N	EFO	3	EFO	cell line	NCI-H1882
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006665	"human small cell lung carcinoma cell line from a 59 year old Caucasian male (ATCC CRL-5903)" []	2999758	\N	\N	EFO	5	EFO	experimental factor	NCI-H1882
EFO:0006666	\N	\N	"human non-small cell lung carcinoma cell line from a 61 year old Caucasian female (ATCC CRL-5904)" []	EFO:0006666	"human non-small cell lung carcinoma cell line from a 61 year old Caucasian female (ATCC CRL-5904)" []	67941	\N	\N	EFO	0	EFO	NCI-H1915	NCI-H1915
EFO:0002888	EFO:0006666	\N	"" []	EFO:0006666	"human non-small cell lung carcinoma cell line from a 61 year old Caucasian female (ATCC CRL-5904)" []	209862	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1915
EFO:0002934	EFO:0006666	\N	"" []	EFO:0006666	"human non-small cell lung carcinoma cell line from a 61 year old Caucasian female (ATCC CRL-5904)" []	209863	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1915
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006666	"human non-small cell lung carcinoma cell line from a 61 year old Caucasian female (ATCC CRL-5904)" []	563042	\N	\N	EFO	2	EFO	cell line	NCI-H1915
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006666	"human non-small cell lung carcinoma cell line from a 61 year old Caucasian female (ATCC CRL-5904)" []	563043	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1915
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006666	"human non-small cell lung carcinoma cell line from a 61 year old Caucasian female (ATCC CRL-5904)" []	2026967	\N	\N	EFO	4	EFO	material entity	NCI-H1915
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006666	"human non-small cell lung carcinoma cell line from a 61 year old Caucasian female (ATCC CRL-5904)" []	1144349	\N	\N	EFO	3	EFO	cell line	NCI-H1915
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006666	"human non-small cell lung carcinoma cell line from a 61 year old Caucasian female (ATCC CRL-5904)" []	2999759	\N	\N	EFO	5	EFO	experimental factor	NCI-H1915
EFO:0006667	\N	\N	"human non-small cell lung carcinoma cell line from a 62 year old Caucasian female (ATCC CRL-5907)" []	EFO:0006667	"human non-small cell lung carcinoma cell line from a 62 year old Caucasian female (ATCC CRL-5907)" []	67942	\N	\N	EFO	0	EFO	NCI-H1944	NCI-H1944
EFO:0002888	EFO:0006667	\N	"" []	EFO:0006667	"human non-small cell lung carcinoma cell line from a 62 year old Caucasian female (ATCC CRL-5907)" []	209864	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H1944
EFO:0002934	EFO:0006667	\N	"" []	EFO:0006667	"human non-small cell lung carcinoma cell line from a 62 year old Caucasian female (ATCC CRL-5907)" []	209865	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H1944
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006667	"human non-small cell lung carcinoma cell line from a 62 year old Caucasian female (ATCC CRL-5907)" []	563044	\N	\N	EFO	2	EFO	cell line	NCI-H1944
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006667	"human non-small cell lung carcinoma cell line from a 62 year old Caucasian female (ATCC CRL-5907)" []	563045	\N	\N	EFO	2	EFO	cancer cell line	NCI-H1944
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006667	"human non-small cell lung carcinoma cell line from a 62 year old Caucasian female (ATCC CRL-5907)" []	2026969	\N	\N	EFO	4	EFO	material entity	NCI-H1944
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006667	"human non-small cell lung carcinoma cell line from a 62 year old Caucasian female (ATCC CRL-5907)" []	1144351	\N	\N	EFO	3	EFO	cell line	NCI-H1944
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006667	"human non-small cell lung carcinoma cell line from a 62 year old Caucasian female (ATCC CRL-5907)" []	2999760	\N	\N	EFO	5	EFO	experimental factor	NCI-H1944
EFO:0006668	\N	\N	"human small cell lung carcinoma cell line from a 68 year old Caucasian male (ATCC CRL-5823)" []	EFO:0006668	"human small cell lung carcinoma cell line from a 68 year old Caucasian male (ATCC CRL-5823)" []	67943	\N	\N	EFO	0	EFO	NCI-H196	NCI-H196
EFO:0002888	EFO:0006668	\N	"" []	EFO:0006668	"human small cell lung carcinoma cell line from a 68 year old Caucasian male (ATCC CRL-5823)" []	209866	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H196
EFO:0002934	EFO:0006668	\N	"" []	EFO:0006668	"human small cell lung carcinoma cell line from a 68 year old Caucasian male (ATCC CRL-5823)" []	209867	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H196
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006668	"human small cell lung carcinoma cell line from a 68 year old Caucasian male (ATCC CRL-5823)" []	563046	\N	\N	EFO	2	EFO	cell line	NCI-H196
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006668	"human small cell lung carcinoma cell line from a 68 year old Caucasian male (ATCC CRL-5823)" []	563047	\N	\N	EFO	2	EFO	cancer cell line	NCI-H196
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006668	"human small cell lung carcinoma cell line from a 68 year old Caucasian male (ATCC CRL-5823)" []	2026971	\N	\N	EFO	4	EFO	material entity	NCI-H196
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006668	"human small cell lung carcinoma cell line from a 68 year old Caucasian male (ATCC CRL-5823)" []	1144353	\N	\N	EFO	3	EFO	cell line	NCI-H196
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006668	"human small cell lung carcinoma cell line from a 68 year old Caucasian male (ATCC CRL-5823)" []	2999761	\N	\N	EFO	5	EFO	experimental factor	NCI-H196
EFO:0006669	\N	\N	"human non-small cell lung carcinoma cell line from a 26 year old Caucasian male (ATCC CRL-5912)" []	EFO:0006669	"human non-small cell lung carcinoma cell line from a 26 year old Caucasian male (ATCC CRL-5912)" []	67944	\N	\N	EFO	0	EFO	NCI-H2023	NCI-H2023
EFO:0002888	EFO:0006669	\N	"" []	EFO:0006669	"human non-small cell lung carcinoma cell line from a 26 year old Caucasian male (ATCC CRL-5912)" []	209868	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2023
EFO:0002934	EFO:0006669	\N	"" []	EFO:0006669	"human non-small cell lung carcinoma cell line from a 26 year old Caucasian male (ATCC CRL-5912)" []	209869	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2023
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006669	"human non-small cell lung carcinoma cell line from a 26 year old Caucasian male (ATCC CRL-5912)" []	563048	\N	\N	EFO	2	EFO	cell line	NCI-H2023
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006669	"human non-small cell lung carcinoma cell line from a 26 year old Caucasian male (ATCC CRL-5912)" []	563049	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2023
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006669	"human non-small cell lung carcinoma cell line from a 26 year old Caucasian male (ATCC CRL-5912)" []	2026973	\N	\N	EFO	4	EFO	material entity	NCI-H2023
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006669	"human non-small cell lung carcinoma cell line from a 26 year old Caucasian male (ATCC CRL-5912)" []	1144355	\N	\N	EFO	3	EFO	cell line	NCI-H2023
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006669	"human non-small cell lung carcinoma cell line from a 26 year old Caucasian male (ATCC CRL-5912)" []	2999762	\N	\N	EFO	5	EFO	experimental factor	NCI-H2023
EFO:0006670	\N	\N	"human lung adenocarcinoma cell line from a 47 year old Caucasian female (ATCC CRL-5918)" []	EFO:0006670	"human lung adenocarcinoma cell line from a 47 year old Caucasian female (ATCC CRL-5918)" []	67945	\N	\N	EFO	0	EFO	NCI-H2073	NCI-H2073
EFO:0001641	EFO:0006670	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006670	"human lung adenocarcinoma cell line from a 47 year old Caucasian female (ATCC CRL-5918)" []	209870	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H2073
EFO:0002888	EFO:0006670	\N	"" []	EFO:0006670	"human lung adenocarcinoma cell line from a 47 year old Caucasian female (ATCC CRL-5918)" []	209871	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2073
EFO:0002934	EFO:0006670	\N	"" []	EFO:0006670	"human lung adenocarcinoma cell line from a 47 year old Caucasian female (ATCC CRL-5918)" []	209872	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2073
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006670	"human lung adenocarcinoma cell line from a 47 year old Caucasian female (ATCC CRL-5918)" []	563050	\N	\N	EFO	2	EFO	cell line	NCI-H2073
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006670	"human lung adenocarcinoma cell line from a 47 year old Caucasian female (ATCC CRL-5918)" []	563051	\N	\N	EFO	2	EFO	cell line	NCI-H2073
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006670	"human lung adenocarcinoma cell line from a 47 year old Caucasian female (ATCC CRL-5918)" []	563052	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2073
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006670	"human lung adenocarcinoma cell line from a 47 year old Caucasian female (ATCC CRL-5918)" []	2026975	\N	\N	EFO	4	EFO	material entity	NCI-H2073
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006670	"human lung adenocarcinoma cell line from a 47 year old Caucasian female (ATCC CRL-5918)" []	1144357	\N	\N	EFO	3	EFO	cell line	NCI-H2073
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006670	"human lung adenocarcinoma cell line from a 47 year old Caucasian female (ATCC CRL-5918)" []	2999763	\N	\N	EFO	5	EFO	experimental factor	NCI-H2073
EFO:0006671	\N	\N	"human small cell lung carcinoma cell line from a Caucasian male (ATCC HTB-172)" []	EFO:0006671	"human small cell lung carcinoma cell line from a Caucasian male (ATCC HTB-172)" []	67946	\N	\N	EFO	0	EFO	NCI-H209	NCI-H209
EFO:0001641	EFO:0006671	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006671	"human small cell lung carcinoma cell line from a Caucasian male (ATCC HTB-172)" []	209873	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H209
EFO:0002888	EFO:0006671	\N	"" []	EFO:0006671	"human small cell lung carcinoma cell line from a Caucasian male (ATCC HTB-172)" []	209874	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H209
EFO:0002934	EFO:0006671	\N	"" []	EFO:0006671	"human small cell lung carcinoma cell line from a Caucasian male (ATCC HTB-172)" []	209875	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H209
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006671	"human small cell lung carcinoma cell line from a Caucasian male (ATCC HTB-172)" []	563053	\N	\N	EFO	2	EFO	cell line	NCI-H209
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006671	"human small cell lung carcinoma cell line from a Caucasian male (ATCC HTB-172)" []	563054	\N	\N	EFO	2	EFO	cell line	NCI-H209
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006671	"human small cell lung carcinoma cell line from a Caucasian male (ATCC HTB-172)" []	563055	\N	\N	EFO	2	EFO	cancer cell line	NCI-H209
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006671	"human small cell lung carcinoma cell line from a Caucasian male (ATCC HTB-172)" []	2026977	\N	\N	EFO	4	EFO	material entity	NCI-H209
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006671	"human small cell lung carcinoma cell line from a Caucasian male (ATCC HTB-172)" []	1144359	\N	\N	EFO	3	EFO	cell line	NCI-H209
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006671	"human small cell lung carcinoma cell line from a Caucasian male (ATCC HTB-172)" []	2999764	\N	\N	EFO	5	EFO	experimental factor	NCI-H209
EFO:0006672	\N	\N	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male (ATCC CRL-5923)" []	EFO:0006672	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male (ATCC CRL-5923)" []	67947	\N	\N	EFO	0	EFO	NCI-H2106	NCI-H2106
EFO:0002888	EFO:0006672	\N	"" []	EFO:0006672	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male (ATCC CRL-5923)" []	209876	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2106
EFO:0002934	EFO:0006672	\N	"" []	EFO:0006672	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male (ATCC CRL-5923)" []	209877	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2106
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006672	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male (ATCC CRL-5923)" []	563056	\N	\N	EFO	2	EFO	cell line	NCI-H2106
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006672	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male (ATCC CRL-5923)" []	563057	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2106
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006672	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male (ATCC CRL-5923)" []	2026979	\N	\N	EFO	4	EFO	material entity	NCI-H2106
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006672	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male (ATCC CRL-5923)" []	1144361	\N	\N	EFO	3	EFO	cell line	NCI-H2106
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006672	"human non-small cell lung carcinoma cell line from a 58 year old Caucasian male (ATCC CRL-5923)" []	2999765	\N	\N	EFO	5	EFO	experimental factor	NCI-H2106
EFO:0006673	\N	\N	"human non-small cell lung carcinoma cell line (ATCC CRL-5924)" []	EFO:0006673	"human non-small cell lung carcinoma cell line (ATCC CRL-5924)" []	67948	\N	\N	EFO	0	EFO	NCI-H2110	NCI-H2110
EFO:0001641	EFO:0006673	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006673	"human non-small cell lung carcinoma cell line (ATCC CRL-5924)" []	209878	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H2110
EFO:0002888	EFO:0006673	\N	"" []	EFO:0006673	"human non-small cell lung carcinoma cell line (ATCC CRL-5924)" []	209879	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2110
EFO:0002934	EFO:0006673	\N	"" []	EFO:0006673	"human non-small cell lung carcinoma cell line (ATCC CRL-5924)" []	209880	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2110
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006673	"human non-small cell lung carcinoma cell line (ATCC CRL-5924)" []	563058	\N	\N	EFO	2	EFO	cell line	NCI-H2110
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006673	"human non-small cell lung carcinoma cell line (ATCC CRL-5924)" []	563059	\N	\N	EFO	2	EFO	cell line	NCI-H2110
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006673	"human non-small cell lung carcinoma cell line (ATCC CRL-5924)" []	563060	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2110
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006673	"human non-small cell lung carcinoma cell line (ATCC CRL-5924)" []	2026981	\N	\N	EFO	4	EFO	material entity	NCI-H2110
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006673	"human non-small cell lung carcinoma cell line (ATCC CRL-5924)" []	1144363	\N	\N	EFO	3	EFO	cell line	NCI-H2110
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006673	"human non-small cell lung carcinoma cell line (ATCC CRL-5924)" []	2999766	\N	\N	EFO	5	EFO	experimental factor	NCI-H2110
EFO:0006674	\N	\N	"human non-small cell lung carcinoma cell line (ATCC CRL-5926)" []	EFO:0006674	"human non-small cell lung carcinoma cell line (ATCC CRL-5926)" []	67949	\N	\N	EFO	0	EFO	NCI-H2135	NCI-H2135
EFO:0002888	EFO:0006674	\N	"" []	EFO:0006674	"human non-small cell lung carcinoma cell line (ATCC CRL-5926)" []	209881	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2135
EFO:0002934	EFO:0006674	\N	"" []	EFO:0006674	"human non-small cell lung carcinoma cell line (ATCC CRL-5926)" []	209882	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2135
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006674	"human non-small cell lung carcinoma cell line (ATCC CRL-5926)" []	563061	\N	\N	EFO	2	EFO	cell line	NCI-H2135
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006674	"human non-small cell lung carcinoma cell line (ATCC CRL-5926)" []	563062	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2135
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006674	"human non-small cell lung carcinoma cell line (ATCC CRL-5926)" []	2026983	\N	\N	EFO	4	EFO	material entity	NCI-H2135
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006674	"human non-small cell lung carcinoma cell line (ATCC CRL-5926)" []	1144365	\N	\N	EFO	3	EFO	cell line	NCI-H2135
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006674	"human non-small cell lung carcinoma cell line (ATCC CRL-5926)" []	2999767	\N	\N	EFO	5	EFO	experimental factor	NCI-H2135
EFO:0006675	\N	\N	"human non-small cell lung carcinoma cell line established from a female (ATCC CRL-5930)" []	EFO:0006675	"human non-small cell lung carcinoma cell line established from a female (ATCC CRL-5930)" []	67950	\N	\N	EFO	0	EFO	NCI-H2172	NCI-H2172
EFO:0002888	EFO:0006675	\N	"" []	EFO:0006675	"human non-small cell lung carcinoma cell line established from a female (ATCC CRL-5930)" []	209883	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2172
EFO:0002934	EFO:0006675	\N	"" []	EFO:0006675	"human non-small cell lung carcinoma cell line established from a female (ATCC CRL-5930)" []	209884	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2172
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006675	"human non-small cell lung carcinoma cell line established from a female (ATCC CRL-5930)" []	563063	\N	\N	EFO	2	EFO	cell line	NCI-H2172
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006675	"human non-small cell lung carcinoma cell line established from a female (ATCC CRL-5930)" []	563064	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2172
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006675	"human non-small cell lung carcinoma cell line established from a female (ATCC CRL-5930)" []	2026985	\N	\N	EFO	4	EFO	material entity	NCI-H2172
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006675	"human non-small cell lung carcinoma cell line established from a female (ATCC CRL-5930)" []	1144367	\N	\N	EFO	3	EFO	cell line	NCI-H2172
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006675	"human non-small cell lung carcinoma cell line established from a female (ATCC CRL-5930)" []	2999768	\N	\N	EFO	5	EFO	experimental factor	NCI-H2172
EFO:0006676	\N	\N	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5932)" []	EFO:0006676	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5932)" []	67951	\N	\N	EFO	0	EFO	NCI-H2196	NCI-H2196
EFO:0002888	EFO:0006676	\N	"" []	EFO:0006676	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5932)" []	209885	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2196
EFO:0002934	EFO:0006676	\N	"" []	EFO:0006676	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5932)" []	209886	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2196
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006676	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5932)" []	563065	\N	\N	EFO	2	EFO	cell line	NCI-H2196
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006676	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5932)" []	563066	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2196
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006676	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5932)" []	2026987	\N	\N	EFO	4	EFO	material entity	NCI-H2196
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006676	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5932)" []	1144369	\N	\N	EFO	3	EFO	cell line	NCI-H2196
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006676	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5932)" []	2999769	\N	\N	EFO	5	EFO	experimental factor	NCI-H2196
EFO:0006677	\N	\N	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5933)" []	EFO:0006677	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5933)" []	67952	\N	\N	EFO	0	EFO	NCI-H2198	NCI-H2198
EFO:0002888	EFO:0006677	\N	"" []	EFO:0006677	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5933)" []	209887	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2198
EFO:0002934	EFO:0006677	\N	"" []	EFO:0006677	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5933)" []	209888	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H2198
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006677	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5933)" []	563067	\N	\N	EFO	2	EFO	cell line	NCI-H2198
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006677	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5933)" []	563068	\N	\N	EFO	2	EFO	cancer cell line	NCI-H2198
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006677	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5933)" []	2026989	\N	\N	EFO	4	EFO	material entity	NCI-H2198
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006677	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5933)" []	1144371	\N	\N	EFO	3	EFO	cell line	NCI-H2198
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006677	"human small cell lung carcinoma cell line from a 67 year old Caucasian male (ATCC CRL-5933)" []	2999770	\N	\N	EFO	5	EFO	experimental factor	NCI-H2198
EFO:0006678	\N	\N	"human lung mesothelioma cell line" []	EFO:0006678	"human lung mesothelioma cell line" []	67953	\N	\N	EFO	0	EFO	NCI-H2369	NCI-H2369
EFO:0001639	EFO:0006678	\N	"" []	EFO:0006678	"human lung mesothelioma cell line" []	209889	\N	\N	EFO	1	EFO	cancer cell line	NCI-H2369
EFO:0002888	EFO:0006678	\N	"" []	EFO:0006678	"human lung mesothelioma cell line" []	209890	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2369
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006678	"human lung mesothelioma cell line" []	563069	\N	\N	EFO	2	EFO	cell line	NCI-H2369
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006678	"human lung mesothelioma cell line" []	563070	\N	\N	EFO	2	EFO	cell line	NCI-H2369
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006678	"human lung mesothelioma cell line" []	1144372	\N	\N	EFO	3	EFO	material entity	NCI-H2369
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006678	"human lung mesothelioma cell line" []	2026990	\N	\N	EFO	4	EFO	experimental factor	NCI-H2369
EFO:0006679	\N	\N	"human lung mesothelioma cell line" []	EFO:0006679	"human lung mesothelioma cell line" []	67954	\N	\N	EFO	0	EFO	NCI-H2373	NCI-H2373
EFO:0001639	EFO:0006679	\N	"" []	EFO:0006679	"human lung mesothelioma cell line" []	209891	\N	\N	EFO	1	EFO	cancer cell line	NCI-H2373
EFO:0002888	EFO:0006679	\N	"" []	EFO:0006679	"human lung mesothelioma cell line" []	209892	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2373
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006679	"human lung mesothelioma cell line" []	563071	\N	\N	EFO	2	EFO	cell line	NCI-H2373
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006679	"human lung mesothelioma cell line" []	563072	\N	\N	EFO	2	EFO	cell line	NCI-H2373
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006679	"human lung mesothelioma cell line" []	1144373	\N	\N	EFO	3	EFO	material entity	NCI-H2373
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006679	"human lung mesothelioma cell line" []	2026991	\N	\N	EFO	4	EFO	experimental factor	NCI-H2373
EFO:0006680	\N	\N	"human lung mesothelioma cell line (ATCC CRL-5946)" []	EFO:0006680	"human lung mesothelioma cell line (ATCC CRL-5946)" []	67955	\N	\N	EFO	0	EFO	NCI-H2452	NCI-H2452
EFO:0001639	EFO:0006680	\N	"" []	EFO:0006680	"human lung mesothelioma cell line (ATCC CRL-5946)" []	209893	\N	\N	EFO	1	EFO	cancer cell line	NCI-H2452
EFO:0001641	EFO:0006680	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006680	"human lung mesothelioma cell line (ATCC CRL-5946)" []	209894	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H2452
EFO:0002888	EFO:0006680	\N	"" []	EFO:0006680	"human lung mesothelioma cell line (ATCC CRL-5946)" []	209895	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2452
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006680	"human lung mesothelioma cell line (ATCC CRL-5946)" []	563073	\N	\N	EFO	2	EFO	cell line	NCI-H2452
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006680	"human lung mesothelioma cell line (ATCC CRL-5946)" []	563074	\N	\N	EFO	2	EFO	cell line	NCI-H2452
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006680	"human lung mesothelioma cell line (ATCC CRL-5946)" []	563075	\N	\N	EFO	2	EFO	cell line	NCI-H2452
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006680	"human lung mesothelioma cell line (ATCC CRL-5946)" []	1144374	\N	\N	EFO	3	EFO	material entity	NCI-H2452
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006680	"human lung mesothelioma cell line (ATCC CRL-5946)" []	2026992	\N	\N	EFO	4	EFO	experimental factor	NCI-H2452
EFO:0006681	\N	\N	"human lung mesothelioma cell line" []	EFO:0006681	"human lung mesothelioma cell line" []	67956	\N	\N	EFO	0	EFO	NCI-H2461	NCI-H2461
EFO:0001639	EFO:0006681	\N	"" []	EFO:0006681	"human lung mesothelioma cell line" []	209896	\N	\N	EFO	1	EFO	cancer cell line	NCI-H2461
EFO:0002888	EFO:0006681	\N	"" []	EFO:0006681	"human lung mesothelioma cell line" []	209897	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2461
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006681	"human lung mesothelioma cell line" []	563076	\N	\N	EFO	2	EFO	cell line	NCI-H2461
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006681	"human lung mesothelioma cell line" []	563077	\N	\N	EFO	2	EFO	cell line	NCI-H2461
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006681	"human lung mesothelioma cell line" []	1144375	\N	\N	EFO	3	EFO	material entity	NCI-H2461
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006681	"human lung mesothelioma cell line" []	2026993	\N	\N	EFO	4	EFO	experimental factor	NCI-H2461
EFO:0006682	\N	\N	"human lung mesothelioma cell line" []	EFO:0006682	"human lung mesothelioma cell line" []	67957	\N	\N	EFO	0	EFO	NCI-H2595	NCI-H2595
EFO:0001639	EFO:0006682	\N	"" []	EFO:0006682	"human lung mesothelioma cell line" []	209898	\N	\N	EFO	1	EFO	cancer cell line	NCI-H2595
EFO:0002888	EFO:0006682	\N	"" []	EFO:0006682	"human lung mesothelioma cell line" []	209899	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2595
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006682	"human lung mesothelioma cell line" []	563078	\N	\N	EFO	2	EFO	cell line	NCI-H2595
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006682	"human lung mesothelioma cell line" []	563079	\N	\N	EFO	2	EFO	cell line	NCI-H2595
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006682	"human lung mesothelioma cell line" []	1144376	\N	\N	EFO	3	EFO	material entity	NCI-H2595
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006682	"human lung mesothelioma cell line" []	2026994	\N	\N	EFO	4	EFO	experimental factor	NCI-H2595
EFO:0006683	\N	\N	"human lung mesothelioma cell line" []	EFO:0006683	"human lung mesothelioma cell line" []	67958	\N	\N	EFO	0	EFO	NCI-H2596	NCI-H2596
EFO:0001639	EFO:0006683	\N	"" []	EFO:0006683	"human lung mesothelioma cell line" []	209900	\N	\N	EFO	1	EFO	cancer cell line	NCI-H2596
EFO:0002888	EFO:0006683	\N	"" []	EFO:0006683	"human lung mesothelioma cell line" []	209901	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2596
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006683	"human lung mesothelioma cell line" []	563080	\N	\N	EFO	2	EFO	cell line	NCI-H2596
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006683	"human lung mesothelioma cell line" []	563081	\N	\N	EFO	2	EFO	cell line	NCI-H2596
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006683	"human lung mesothelioma cell line" []	1144377	\N	\N	EFO	3	EFO	material entity	NCI-H2596
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006683	"human lung mesothelioma cell line" []	2026995	\N	\N	EFO	4	EFO	experimental factor	NCI-H2596
EFO:0006684	\N	\N	"human lung mesothelioma cell line" []	EFO:0006684	"human lung mesothelioma cell line" []	67959	\N	\N	EFO	0	EFO	NCI-H2722	NCI-H2722
EFO:0001639	EFO:0006684	\N	"" []	EFO:0006684	"human lung mesothelioma cell line" []	209902	\N	\N	EFO	1	EFO	cancer cell line	NCI-H2722
EFO:0002888	EFO:0006684	\N	"" []	EFO:0006684	"human lung mesothelioma cell line" []	209903	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2722
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006684	"human lung mesothelioma cell line" []	563082	\N	\N	EFO	2	EFO	cell line	NCI-H2722
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006684	"human lung mesothelioma cell line" []	563083	\N	\N	EFO	2	EFO	cell line	NCI-H2722
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006684	"human lung mesothelioma cell line" []	1144378	\N	\N	EFO	3	EFO	material entity	NCI-H2722
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006684	"human lung mesothelioma cell line" []	2026996	\N	\N	EFO	4	EFO	experimental factor	NCI-H2722
EFO:0006685	\N	\N	"human lung mesothelioma cell line" []	EFO:0006685	"human lung mesothelioma cell line" []	67960	\N	\N	EFO	0	EFO	NCI-H2795	NCI-H2795
EFO:0001639	EFO:0006685	\N	"" []	EFO:0006685	"human lung mesothelioma cell line" []	209904	\N	\N	EFO	1	EFO	cancer cell line	NCI-H2795
EFO:0002888	EFO:0006685	\N	"" []	EFO:0006685	"human lung mesothelioma cell line" []	209905	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2795
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006685	"human lung mesothelioma cell line" []	563084	\N	\N	EFO	2	EFO	cell line	NCI-H2795
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006685	"human lung mesothelioma cell line" []	563085	\N	\N	EFO	2	EFO	cell line	NCI-H2795
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006685	"human lung mesothelioma cell line" []	1144379	\N	\N	EFO	3	EFO	material entity	NCI-H2795
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006685	"human lung mesothelioma cell line" []	2026997	\N	\N	EFO	4	EFO	experimental factor	NCI-H2795
EFO:0006686	\N	\N	"human lung mesothelioma cell line from a 48 year old Caucasian male (ATCC CRL-5820)" []	EFO:0006686	"human lung mesothelioma cell line from a 48 year old Caucasian male (ATCC CRL-5820)" []	67961	\N	\N	EFO	0	EFO	NCI-H28	NCI-H28
EFO:0001639	EFO:0006686	\N	"" []	EFO:0006686	"human lung mesothelioma cell line from a 48 year old Caucasian male (ATCC CRL-5820)" []	209906	\N	\N	EFO	1	EFO	cancer cell line	NCI-H28
EFO:0002888	EFO:0006686	\N	"" []	EFO:0006686	"human lung mesothelioma cell line from a 48 year old Caucasian male (ATCC CRL-5820)" []	209907	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H28
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006686	"human lung mesothelioma cell line from a 48 year old Caucasian male (ATCC CRL-5820)" []	563086	\N	\N	EFO	2	EFO	cell line	NCI-H28
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006686	"human lung mesothelioma cell line from a 48 year old Caucasian male (ATCC CRL-5820)" []	563087	\N	\N	EFO	2	EFO	cell line	NCI-H28
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006686	"human lung mesothelioma cell line from a 48 year old Caucasian male (ATCC CRL-5820)" []	1144380	\N	\N	EFO	3	EFO	material entity	NCI-H28
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006686	"human lung mesothelioma cell line from a 48 year old Caucasian male (ATCC CRL-5820)" []	2026998	\N	\N	EFO	4	EFO	experimental factor	NCI-H28
EFO:0006687	\N	\N	"human lung mesothelioma cell line" []	EFO:0006687	"human lung mesothelioma cell line" []	67962	\N	\N	EFO	0	EFO	NCI-H2803	NCI-H2803
EFO:0001639	EFO:0006687	\N	"" []	EFO:0006687	"human lung mesothelioma cell line" []	209908	\N	\N	EFO	1	EFO	cancer cell line	NCI-H2803
EFO:0002888	EFO:0006687	\N	"" []	EFO:0006687	"human lung mesothelioma cell line" []	209909	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2803
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006687	"human lung mesothelioma cell line" []	563088	\N	\N	EFO	2	EFO	cell line	NCI-H2803
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006687	"human lung mesothelioma cell line" []	563089	\N	\N	EFO	2	EFO	cell line	NCI-H2803
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006687	"human lung mesothelioma cell line" []	1144381	\N	\N	EFO	3	EFO	material entity	NCI-H2803
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006687	"human lung mesothelioma cell line" []	2026999	\N	\N	EFO	4	EFO	experimental factor	NCI-H2803
EFO:0006688	\N	\N	"human lung mesothelioma cell line" []	EFO:0006688	"human lung mesothelioma cell line" []	67963	\N	\N	EFO	0	EFO	NCI-H2804	NCI-H2804
EFO:0001639	EFO:0006688	\N	"" []	EFO:0006688	"human lung mesothelioma cell line" []	209910	\N	\N	EFO	1	EFO	cancer cell line	NCI-H2804
EFO:0002888	EFO:0006688	\N	"" []	EFO:0006688	"human lung mesothelioma cell line" []	209911	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2804
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006688	"human lung mesothelioma cell line" []	563090	\N	\N	EFO	2	EFO	cell line	NCI-H2804
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006688	"human lung mesothelioma cell line" []	563091	\N	\N	EFO	2	EFO	cell line	NCI-H2804
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006688	"human lung mesothelioma cell line" []	1144382	\N	\N	EFO	3	EFO	material entity	NCI-H2804
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006688	"human lung mesothelioma cell line" []	2027000	\N	\N	EFO	4	EFO	experimental factor	NCI-H2804
EFO:0006689	\N	\N	"human lung mesothelioma cell line" []	EFO:0006689	"human lung mesothelioma cell line" []	67964	\N	\N	EFO	0	EFO	NCI-H2810	NCI-H2810
EFO:0001639	EFO:0006689	\N	"" []	EFO:0006689	"human lung mesothelioma cell line" []	209912	\N	\N	EFO	1	EFO	cancer cell line	NCI-H2810
EFO:0002888	EFO:0006689	\N	"" []	EFO:0006689	"human lung mesothelioma cell line" []	209913	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H2810
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006689	"human lung mesothelioma cell line" []	563092	\N	\N	EFO	2	EFO	cell line	NCI-H2810
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006689	"human lung mesothelioma cell line" []	563093	\N	\N	EFO	2	EFO	cell line	NCI-H2810
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006689	"human lung mesothelioma cell line" []	1144383	\N	\N	EFO	3	EFO	material entity	NCI-H2810
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006689	"human lung mesothelioma cell line" []	2027001	\N	\N	EFO	4	EFO	experimental factor	NCI-H2810
EFO:0006690	\N	\N	"human pulmonary mucoepidermoid carcinoma cell line derived from a cervical node metastasis of a pulmonary mucoepidermoid carcinoma from a 32 year old female (SIGMA catalog number 91091815)" []	EFO:0006690	"human pulmonary mucoepidermoid carcinoma cell line derived from a cervical node metastasis of a pulmonary mucoepidermoid carcinoma from a 32 year old female (SIGMA catalog number 91091815)" []	67965	\N	\N	EFO	0	EFO	NCI-H292	NCI-H292
EFO:0001641	EFO:0006690	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006690	"human pulmonary mucoepidermoid carcinoma cell line derived from a cervical node metastasis of a pulmonary mucoepidermoid carcinoma from a 32 year old female (SIGMA catalog number 91091815)" []	209914	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H292
EFO:0002888	EFO:0006690	\N	"" []	EFO:0006690	"human pulmonary mucoepidermoid carcinoma cell line derived from a cervical node metastasis of a pulmonary mucoepidermoid carcinoma from a 32 year old female (SIGMA catalog number 91091815)" []	209915	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H292
EFO:0002934	EFO:0006690	\N	"" []	EFO:0006690	"human pulmonary mucoepidermoid carcinoma cell line derived from a cervical node metastasis of a pulmonary mucoepidermoid carcinoma from a 32 year old female (SIGMA catalog number 91091815)" []	209916	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H292
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006690	"human pulmonary mucoepidermoid carcinoma cell line derived from a cervical node metastasis of a pulmonary mucoepidermoid carcinoma from a 32 year old female (SIGMA catalog number 91091815)" []	563094	\N	\N	EFO	2	EFO	cell line	NCI-H292
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006690	"human pulmonary mucoepidermoid carcinoma cell line derived from a cervical node metastasis of a pulmonary mucoepidermoid carcinoma from a 32 year old female (SIGMA catalog number 91091815)" []	563095	\N	\N	EFO	2	EFO	cell line	NCI-H292
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006690	"human pulmonary mucoepidermoid carcinoma cell line derived from a cervical node metastasis of a pulmonary mucoepidermoid carcinoma from a 32 year old female (SIGMA catalog number 91091815)" []	563096	\N	\N	EFO	2	EFO	cancer cell line	NCI-H292
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006690	"human pulmonary mucoepidermoid carcinoma cell line derived from a cervical node metastasis of a pulmonary mucoepidermoid carcinoma from a 32 year old female (SIGMA catalog number 91091815)" []	2027003	\N	\N	EFO	4	EFO	material entity	NCI-H292
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006690	"human pulmonary mucoepidermoid carcinoma cell line derived from a cervical node metastasis of a pulmonary mucoepidermoid carcinoma from a 32 year old female (SIGMA catalog number 91091815)" []	1144385	\N	\N	EFO	3	EFO	cell line	NCI-H292
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006690	"human pulmonary mucoepidermoid carcinoma cell line derived from a cervical node metastasis of a pulmonary mucoepidermoid carcinoma from a 32 year old female (SIGMA catalog number 91091815)" []	2999771	\N	\N	EFO	5	EFO	experimental factor	NCI-H292
EFO:0006691	\N	\N	"human non-small cell lung carcinoma cell line" []	EFO:0006691	"human non-small cell lung carcinoma cell line" []	67966	\N	\N	EFO	0	EFO	NCI-H322T	NCI-H322T
EFO:0002888	EFO:0006691	\N	"" []	EFO:0006691	"human non-small cell lung carcinoma cell line" []	209917	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H322T
EFO:0002934	EFO:0006691	\N	"" []	EFO:0006691	"human non-small cell lung carcinoma cell line" []	209918	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H322T
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006691	"human non-small cell lung carcinoma cell line" []	563097	\N	\N	EFO	2	EFO	cell line	NCI-H322T
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006691	"human non-small cell lung carcinoma cell line" []	563098	\N	\N	EFO	2	EFO	cancer cell line	NCI-H322T
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006691	"human non-small cell lung carcinoma cell line" []	2027005	\N	\N	EFO	4	EFO	material entity	NCI-H322T
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006691	"human non-small cell lung carcinoma cell line" []	1144387	\N	\N	EFO	3	EFO	cell line	NCI-H322T
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006691	"human non-small cell lung carcinoma cell line" []	2999772	\N	\N	EFO	5	EFO	experimental factor	NCI-H322T
EFO:0006692	\N	\N	"human small cell lung carcinoma cell line from a 64 year old Caucasian male (ATCC HTB-180)" []	EFO:0006692	"human small cell lung carcinoma cell line from a 64 year old Caucasian male (ATCC HTB-180)" []	67967	\N	\N	EFO	0	EFO	NCI-H345	NCI-H345
EFO:0001641	EFO:0006692	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006692	"human small cell lung carcinoma cell line from a 64 year old Caucasian male (ATCC HTB-180)" []	209919	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H345
EFO:0002888	EFO:0006692	\N	"" []	EFO:0006692	"human small cell lung carcinoma cell line from a 64 year old Caucasian male (ATCC HTB-180)" []	209920	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H345
EFO:0002934	EFO:0006692	\N	"" []	EFO:0006692	"human small cell lung carcinoma cell line from a 64 year old Caucasian male (ATCC HTB-180)" []	209921	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H345
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006692	"human small cell lung carcinoma cell line from a 64 year old Caucasian male (ATCC HTB-180)" []	563099	\N	\N	EFO	2	EFO	cell line	NCI-H345
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006692	"human small cell lung carcinoma cell line from a 64 year old Caucasian male (ATCC HTB-180)" []	563100	\N	\N	EFO	2	EFO	cell line	NCI-H345
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006692	"human small cell lung carcinoma cell line from a 64 year old Caucasian male (ATCC HTB-180)" []	563101	\N	\N	EFO	2	EFO	cancer cell line	NCI-H345
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006692	"human small cell lung carcinoma cell line from a 64 year old Caucasian male (ATCC HTB-180)" []	2027007	\N	\N	EFO	4	EFO	material entity	NCI-H345
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006692	"human small cell lung carcinoma cell line from a 64 year old Caucasian male (ATCC HTB-180)" []	1144389	\N	\N	EFO	3	EFO	cell line	NCI-H345
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006692	"human small cell lung carcinoma cell line from a 64 year old Caucasian male (ATCC HTB-180)" []	2999773	\N	\N	EFO	5	EFO	experimental factor	NCI-H345
EFO:0006693	\N	\N	"human small cell lung carcinoma cell line from a 56 year old Caucasian male (ATCC HTB-184)" []	EFO:0006693	"human small cell lung carcinoma cell line from a 56 year old Caucasian male (ATCC HTB-184)" []	67968	\N	\N	EFO	0	EFO	NCI-H510A	NCI-H510A
EFO:0001641	EFO:0006693	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006693	"human small cell lung carcinoma cell line from a 56 year old Caucasian male (ATCC HTB-184)" []	209922	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H510A
EFO:0002888	EFO:0006693	\N	"" []	EFO:0006693	"human small cell lung carcinoma cell line from a 56 year old Caucasian male (ATCC HTB-184)" []	209923	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H510A
EFO:0002934	EFO:0006693	\N	"" []	EFO:0006693	"human small cell lung carcinoma cell line from a 56 year old Caucasian male (ATCC HTB-184)" []	209924	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H510A
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006693	"human small cell lung carcinoma cell line from a 56 year old Caucasian male (ATCC HTB-184)" []	563102	\N	\N	EFO	2	EFO	cell line	NCI-H510A
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006693	"human small cell lung carcinoma cell line from a 56 year old Caucasian male (ATCC HTB-184)" []	563103	\N	\N	EFO	2	EFO	cell line	NCI-H510A
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006693	"human small cell lung carcinoma cell line from a 56 year old Caucasian male (ATCC HTB-184)" []	563104	\N	\N	EFO	2	EFO	cancer cell line	NCI-H510A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006693	"human small cell lung carcinoma cell line from a 56 year old Caucasian male (ATCC HTB-184)" []	2027009	\N	\N	EFO	4	EFO	material entity	NCI-H510A
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006693	"human small cell lung carcinoma cell line from a 56 year old Caucasian male (ATCC HTB-184)" []	1144391	\N	\N	EFO	3	EFO	cell line	NCI-H510A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006693	"human small cell lung carcinoma cell line from a 56 year old Caucasian male (ATCC HTB-184)" []	2999774	\N	\N	EFO	5	EFO	experimental factor	NCI-H510A
EFO:0006694	\N	\N	"human adenosquamous lung carcinoma cell line from a 73 year old Caucasian male (ATCC HTB-178)" []	EFO:0006694	"human adenosquamous lung carcinoma cell line from a 73 year old Caucasian male (ATCC HTB-178)" []	67969	\N	\N	EFO	0	EFO	NCI-H596	NCI-H596
EFO:0001641	EFO:0006694	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006694	"human adenosquamous lung carcinoma cell line from a 73 year old Caucasian male (ATCC HTB-178)" []	209925	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H596
EFO:0002888	EFO:0006694	\N	"" []	EFO:0006694	"human adenosquamous lung carcinoma cell line from a 73 year old Caucasian male (ATCC HTB-178)" []	209926	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H596
EFO:0002934	EFO:0006694	\N	"" []	EFO:0006694	"human adenosquamous lung carcinoma cell line from a 73 year old Caucasian male (ATCC HTB-178)" []	209927	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H596
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006694	"human adenosquamous lung carcinoma cell line from a 73 year old Caucasian male (ATCC HTB-178)" []	563105	\N	\N	EFO	2	EFO	cell line	NCI-H596
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006694	"human adenosquamous lung carcinoma cell line from a 73 year old Caucasian male (ATCC HTB-178)" []	563106	\N	\N	EFO	2	EFO	cell line	NCI-H596
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006694	"human adenosquamous lung carcinoma cell line from a 73 year old Caucasian male (ATCC HTB-178)" []	563107	\N	\N	EFO	2	EFO	cancer cell line	NCI-H596
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006694	"human adenosquamous lung carcinoma cell line from a 73 year old Caucasian male (ATCC HTB-178)" []	2027011	\N	\N	EFO	4	EFO	material entity	NCI-H596
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006694	"human adenosquamous lung carcinoma cell line from a 73 year old Caucasian male (ATCC HTB-178)" []	1144393	\N	\N	EFO	3	EFO	cell line	NCI-H596
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006694	"human adenosquamous lung carcinoma cell line from a 73 year old Caucasian male (ATCC HTB-178)" []	2999775	\N	\N	EFO	5	EFO	experimental factor	NCI-H596
EFO:0006695	\N	\N	"human non-small cell lung carcinoma cell line from the lung of a 65 year old Caucasian female with a non-small cell lung carcinoma, prior to treatment (SIGMA catalog number 94060303)" []	EFO:0006695	"human non-small cell lung carcinoma cell line from the lung of a 65 year old Caucasian female with a non-small cell lung carcinoma, prior to treatment (SIGMA catalog number 94060303)" []	67970	\N	\N	EFO	0	EFO	NCI-H727	NCI-H727
EFO:0001641	EFO:0006695	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006695	"human non-small cell lung carcinoma cell line from the lung of a 65 year old Caucasian female with a non-small cell lung carcinoma, prior to treatment (SIGMA catalog number 94060303)" []	209928	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H727
EFO:0002888	EFO:0006695	\N	"" []	EFO:0006695	"human non-small cell lung carcinoma cell line from the lung of a 65 year old Caucasian female with a non-small cell lung carcinoma, prior to treatment (SIGMA catalog number 94060303)" []	209929	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H727
EFO:0002934	EFO:0006695	\N	"" []	EFO:0006695	"human non-small cell lung carcinoma cell line from the lung of a 65 year old Caucasian female with a non-small cell lung carcinoma, prior to treatment (SIGMA catalog number 94060303)" []	209930	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H727
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006695	"human non-small cell lung carcinoma cell line from the lung of a 65 year old Caucasian female with a non-small cell lung carcinoma, prior to treatment (SIGMA catalog number 94060303)" []	563108	\N	\N	EFO	2	EFO	cell line	NCI-H727
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006695	"human non-small cell lung carcinoma cell line from the lung of a 65 year old Caucasian female with a non-small cell lung carcinoma, prior to treatment (SIGMA catalog number 94060303)" []	563109	\N	\N	EFO	2	EFO	cell line	NCI-H727
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006695	"human non-small cell lung carcinoma cell line from the lung of a 65 year old Caucasian female with a non-small cell lung carcinoma, prior to treatment (SIGMA catalog number 94060303)" []	563110	\N	\N	EFO	2	EFO	cancer cell line	NCI-H727
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006695	"human non-small cell lung carcinoma cell line from the lung of a 65 year old Caucasian female with a non-small cell lung carcinoma, prior to treatment (SIGMA catalog number 94060303)" []	2027013	\N	\N	EFO	4	EFO	material entity	NCI-H727
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006695	"human non-small cell lung carcinoma cell line from the lung of a 65 year old Caucasian female with a non-small cell lung carcinoma, prior to treatment (SIGMA catalog number 94060303)" []	1144395	\N	\N	EFO	3	EFO	cell line	NCI-H727
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006695	"human non-small cell lung carcinoma cell line from the lung of a 65 year old Caucasian female with a non-small cell lung carcinoma, prior to treatment (SIGMA catalog number 94060303)" []	2999776	\N	\N	EFO	5	EFO	experimental factor	NCI-H727
EFO:0006696	\N	\N	"human small cell lung carcinoma cell line from a 63 year old Caucasian male (ATCC CRL-5846)" []	EFO:0006696	"human small cell lung carcinoma cell line from a 63 year old Caucasian male (ATCC CRL-5846)" []	67971	\N	\N	EFO	0	EFO	NCI-H847	NCI-H847
EFO:0002888	EFO:0006696	\N	"" []	EFO:0006696	"human small cell lung carcinoma cell line from a 63 year old Caucasian male (ATCC CRL-5846)" []	209931	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H847
EFO:0002934	EFO:0006696	\N	"" []	EFO:0006696	"human small cell lung carcinoma cell line from a 63 year old Caucasian male (ATCC CRL-5846)" []	209932	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H847
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006696	"human small cell lung carcinoma cell line from a 63 year old Caucasian male (ATCC CRL-5846)" []	563111	\N	\N	EFO	2	EFO	cell line	NCI-H847
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006696	"human small cell lung carcinoma cell line from a 63 year old Caucasian male (ATCC CRL-5846)" []	563112	\N	\N	EFO	2	EFO	cancer cell line	NCI-H847
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006696	"human small cell lung carcinoma cell line from a 63 year old Caucasian male (ATCC CRL-5846)" []	2027015	\N	\N	EFO	4	EFO	material entity	NCI-H847
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006696	"human small cell lung carcinoma cell line from a 63 year old Caucasian male (ATCC CRL-5846)" []	1144397	\N	\N	EFO	3	EFO	cell line	NCI-H847
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006696	"human small cell lung carcinoma cell line from a 63 year old Caucasian male (ATCC CRL-5846)" []	2999777	\N	\N	EFO	5	EFO	experimental factor	NCI-H847
EFO:0006697	\N	\N	"human small cell lung carcinoma cell line from a 69 year old Caucasian female (ATCC CRL-5817)" []	EFO:0006697	"human small cell lung carcinoma cell line from a 69 year old Caucasian female (ATCC CRL-5817)" []	67972	\N	\N	EFO	0	EFO	NCI-H889	NCI-H889
EFO:0001641	EFO:0006697	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006697	"human small cell lung carcinoma cell line from a 69 year old Caucasian female (ATCC CRL-5817)" []	209933	\N	\N	EFO	1	EFO	epithelial cell derived cell line	NCI-H889
EFO:0002888	EFO:0006697	\N	"" []	EFO:0006697	"human small cell lung carcinoma cell line from a 69 year old Caucasian female (ATCC CRL-5817)" []	209934	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H889
EFO:0002934	EFO:0006697	\N	"" []	EFO:0006697	"human small cell lung carcinoma cell line from a 69 year old Caucasian female (ATCC CRL-5817)" []	209935	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H889
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006697	"human small cell lung carcinoma cell line from a 69 year old Caucasian female (ATCC CRL-5817)" []	563113	\N	\N	EFO	2	EFO	cell line	NCI-H889
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006697	"human small cell lung carcinoma cell line from a 69 year old Caucasian female (ATCC CRL-5817)" []	563114	\N	\N	EFO	2	EFO	cell line	NCI-H889
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006697	"human small cell lung carcinoma cell line from a 69 year old Caucasian female (ATCC CRL-5817)" []	563115	\N	\N	EFO	2	EFO	cancer cell line	NCI-H889
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006697	"human small cell lung carcinoma cell line from a 69 year old Caucasian female (ATCC CRL-5817)" []	2027017	\N	\N	EFO	4	EFO	material entity	NCI-H889
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006697	"human small cell lung carcinoma cell line from a 69 year old Caucasian female (ATCC CRL-5817)" []	1144399	\N	\N	EFO	3	EFO	cell line	NCI-H889
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006697	"human small cell lung carcinoma cell line from a 69 year old Caucasian female (ATCC CRL-5817)" []	2999778	\N	\N	EFO	5	EFO	experimental factor	NCI-H889
EFO:0006698	\N	\N	"human non-small cell lung carcinoma cell line from a 43 year old Caucasian male (ATCC CRL-5850)" []	EFO:0006698	"human non-small cell lung carcinoma cell line from a 43 year old Caucasian male (ATCC CRL-5850)" []	67973	\N	\N	EFO	0	EFO	NCI-H920	NCI-H920
EFO:0002888	EFO:0006698	\N	"" []	EFO:0006698	"human non-small cell lung carcinoma cell line from a 43 year old Caucasian male (ATCC CRL-5850)" []	209936	\N	\N	EFO	1	EFO	Homo sapiens cell line	NCI-H920
EFO:0002934	EFO:0006698	\N	"" []	EFO:0006698	"human non-small cell lung carcinoma cell line from a 43 year old Caucasian male (ATCC CRL-5850)" []	209937	\N	\N	EFO	1	EFO	lung cancer cell line	NCI-H920
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006698	"human non-small cell lung carcinoma cell line from a 43 year old Caucasian male (ATCC CRL-5850)" []	563116	\N	\N	EFO	2	EFO	cell line	NCI-H920
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006698	"human non-small cell lung carcinoma cell line from a 43 year old Caucasian male (ATCC CRL-5850)" []	563117	\N	\N	EFO	2	EFO	cancer cell line	NCI-H920
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006698	"human non-small cell lung carcinoma cell line from a 43 year old Caucasian male (ATCC CRL-5850)" []	2027019	\N	\N	EFO	4	EFO	material entity	NCI-H920
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006698	"human non-small cell lung carcinoma cell line from a 43 year old Caucasian male (ATCC CRL-5850)" []	1144401	\N	\N	EFO	3	EFO	cell line	NCI-H920
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006698	"human non-small cell lung carcinoma cell line from a 43 year old Caucasian male (ATCC CRL-5850)" []	2999779	\N	\N	EFO	5	EFO	experimental factor	NCI-H920
EFO:0006699	\N	\N	"human normal ovarian fibroblast cell line" []	EFO:0006699	"human normal ovarian fibroblast cell line" []	67974	\N	\N	EFO	0	EFO	NOF151	NOF151
EFO:0002888	EFO:0006699	\N	"" []	EFO:0006699	"human normal ovarian fibroblast cell line" []	209938	\N	\N	EFO	1	EFO	Homo sapiens cell line	NOF151
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006699	"human normal ovarian fibroblast cell line" []	563118	\N	\N	EFO	2	EFO	cell line	NOF151
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006699	"human normal ovarian fibroblast cell line" []	1144402	\N	\N	EFO	3	EFO	material entity	NOF151
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006699	"human normal ovarian fibroblast cell line" []	2027020	\N	\N	EFO	4	EFO	experimental factor	NOF151
EFO:0006700	\N	\N	"human B-cell non-Hodgkin lymphoma cell line established in 1982 from the cerebrospinal fluid of a 43-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 579)" []	EFO:0006700	"human B-cell non-Hodgkin lymphoma cell line established in 1982 from the cerebrospinal fluid of a 43-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 579)" []	67975	\N	\N	EFO	0	EFO	NU-DUL-1	NU-DUL-1
EFO:0001639	EFO:0006700	\N	"" []	EFO:0006700	"human B-cell non-Hodgkin lymphoma cell line established in 1982 from the cerebrospinal fluid of a 43-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 579)" []	209939	\N	\N	EFO	1	EFO	cancer cell line	NU-DUL-1
EFO:0002888	EFO:0006700	\N	"" []	EFO:0006700	"human B-cell non-Hodgkin lymphoma cell line established in 1982 from the cerebrospinal fluid of a 43-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 579)" []	209940	\N	\N	EFO	1	EFO	Homo sapiens cell line	NU-DUL-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006700	"human B-cell non-Hodgkin lymphoma cell line established in 1982 from the cerebrospinal fluid of a 43-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 579)" []	563119	\N	\N	EFO	2	EFO	cell line	NU-DUL-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006700	"human B-cell non-Hodgkin lymphoma cell line established in 1982 from the cerebrospinal fluid of a 43-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 579)" []	563120	\N	\N	EFO	2	EFO	cell line	NU-DUL-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006700	"human B-cell non-Hodgkin lymphoma cell line established in 1982 from the cerebrospinal fluid of a 43-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 579)" []	1144403	\N	\N	EFO	3	EFO	material entity	NU-DUL-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006700	"human B-cell non-Hodgkin lymphoma cell line established in 1982 from the cerebrospinal fluid of a 43-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 579)" []	2027021	\N	\N	EFO	4	EFO	experimental factor	NU-DUL-1
EFO:0006701	\N	\N	"human stomach adenocarcinoma cell line from a 56 year old female" []	EFO:0006701	"human stomach adenocarcinoma cell line from a 56 year old female" []	67976	\N	\N	EFO	0	EFO	NUGC-2	NUGC-2
EFO:0001639	EFO:0006701	\N	"" []	EFO:0006701	"human stomach adenocarcinoma cell line from a 56 year old female" []	209941	\N	\N	EFO	1	EFO	cancer cell line	NUGC-2
EFO:0002888	EFO:0006701	\N	"" []	EFO:0006701	"human stomach adenocarcinoma cell line from a 56 year old female" []	209942	\N	\N	EFO	1	EFO	Homo sapiens cell line	NUGC-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006701	"human stomach adenocarcinoma cell line from a 56 year old female" []	563121	\N	\N	EFO	2	EFO	cell line	NUGC-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006701	"human stomach adenocarcinoma cell line from a 56 year old female" []	563122	\N	\N	EFO	2	EFO	cell line	NUGC-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006701	"human stomach adenocarcinoma cell line from a 56 year old female" []	1144404	\N	\N	EFO	3	EFO	material entity	NUGC-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006701	"human stomach adenocarcinoma cell line from a 56 year old female" []	2027022	\N	\N	EFO	4	EFO	experimental factor	NUGC-2
EFO:0006702	\N	\N	"human stomach adenocarcinoma cell line from a 72 year old male" []	EFO:0006702	"human stomach adenocarcinoma cell line from a 72 year old male" []	67977	\N	\N	EFO	0	EFO	NUGC-3	NUGC-3
EFO:0001639	EFO:0006702	\N	"" []	EFO:0006702	"human stomach adenocarcinoma cell line from a 72 year old male" []	209943	\N	\N	EFO	1	EFO	cancer cell line	NUGC-3
EFO:0002888	EFO:0006702	\N	"" []	EFO:0006702	"human stomach adenocarcinoma cell line from a 72 year old male" []	209944	\N	\N	EFO	1	EFO	Homo sapiens cell line	NUGC-3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006702	"human stomach adenocarcinoma cell line from a 72 year old male" []	563123	\N	\N	EFO	2	EFO	cell line	NUGC-3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006702	"human stomach adenocarcinoma cell line from a 72 year old male" []	563124	\N	\N	EFO	2	EFO	cell line	NUGC-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006702	"human stomach adenocarcinoma cell line from a 72 year old male" []	1144405	\N	\N	EFO	3	EFO	material entity	NUGC-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006702	"human stomach adenocarcinoma cell line from a 72 year old male" []	2027023	\N	\N	EFO	4	EFO	experimental factor	NUGC-3
EFO:0006703	\N	\N	"human stomach adenocarcinoma cell line from a 35 year old female" []	EFO:0006703	"human stomach adenocarcinoma cell line from a 35 year old female" []	67978	\N	\N	EFO	0	EFO	NUGC-4	NUGC-4
EFO:0001639	EFO:0006703	\N	"" []	EFO:0006703	"human stomach adenocarcinoma cell line from a 35 year old female" []	209945	\N	\N	EFO	1	EFO	cancer cell line	NUGC-4
EFO:0002888	EFO:0006703	\N	"" []	EFO:0006703	"human stomach adenocarcinoma cell line from a 35 year old female" []	209946	\N	\N	EFO	1	EFO	Homo sapiens cell line	NUGC-4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006703	"human stomach adenocarcinoma cell line from a 35 year old female" []	563125	\N	\N	EFO	2	EFO	cell line	NUGC-4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006703	"human stomach adenocarcinoma cell line from a 35 year old female" []	563126	\N	\N	EFO	2	EFO	cell line	NUGC-4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006703	"human stomach adenocarcinoma cell line from a 35 year old female" []	1144406	\N	\N	EFO	3	EFO	material entity	NUGC-4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006703	"human stomach adenocarcinoma cell line from a 35 year old female" []	2027024	\N	\N	EFO	4	EFO	experimental factor	NUGC-4
EFO:0006704	\N	\N	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85101601)" []	EFO:0006704	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85101601)" []	67979	\N	\N	EFO	0	EFO	OAW28	OAW28
EFO:0001641	EFO:0006704	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006704	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85101601)" []	209947	\N	\N	EFO	1	EFO	epithelial cell derived cell line	OAW28
EFO:0002888	EFO:0006704	\N	"" []	EFO:0006704	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85101601)" []	209948	\N	\N	EFO	1	EFO	Homo sapiens cell line	OAW28
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006704	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85101601)" []	563127	\N	\N	EFO	2	EFO	cell line	OAW28
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006704	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85101601)" []	563128	\N	\N	EFO	2	EFO	cell line	OAW28
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006704	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85101601)" []	1144407	\N	\N	EFO	3	EFO	material entity	OAW28
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006704	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85101601)" []	2027025	\N	\N	EFO	4	EFO	experimental factor	OAW28
EFO:0006705	\N	\N	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85073102)" []	EFO:0006705	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85073102)" []	67980	\N	\N	EFO	0	EFO	OAW42	OAW42
EFO:0001641	EFO:0006705	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006705	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85073102)" []	209949	\N	\N	EFO	1	EFO	epithelial cell derived cell line	OAW42
EFO:0002888	EFO:0006705	\N	"" []	EFO:0006705	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85073102)" []	209950	\N	\N	EFO	1	EFO	Homo sapiens cell line	OAW42
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006705	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85073102)" []	563129	\N	\N	EFO	2	EFO	cell line	OAW42
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006705	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85073102)" []	563130	\N	\N	EFO	2	EFO	cell line	OAW42
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006705	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85073102)" []	1144408	\N	\N	EFO	3	EFO	material entity	OAW42
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006705	"human ovarian serous cystadenocarcinoma cell line from an ascites of patient with ovarian cystadenocarcinoma (Sigma catalog number 85073102)" []	2027026	\N	\N	EFO	4	EFO	experimental factor	OAW42
EFO:0006706	\N	\N	"human acute myeloid leukemia cell line established from the peripheral blood of a 65-year-old man with acute myeloid leukemia (AML FAB M4) in 1986 (DSMZ catalog number ACC 99)" []	EFO:0006706	"human acute myeloid leukemia cell line established from the peripheral blood of a 65-year-old man with acute myeloid leukemia (AML FAB M4) in 1986 (DSMZ catalog number ACC 99)" []	67981	\N	\N	EFO	0	EFO	OCI-AML2	OCI-AML2
EFO:0002888	EFO:0006706	\N	"" []	EFO:0006706	"human acute myeloid leukemia cell line established from the peripheral blood of a 65-year-old man with acute myeloid leukemia (AML FAB M4) in 1986 (DSMZ catalog number ACC 99)" []	209951	\N	\N	EFO	1	EFO	Homo sapiens cell line	OCI-AML2
EFO:0002937	EFO:0006706	\N	"" []	EFO:0006706	"human acute myeloid leukemia cell line established from the peripheral blood of a 65-year-old man with acute myeloid leukemia (AML FAB M4) in 1986 (DSMZ catalog number ACC 99)" []	209952	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	OCI-AML2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006706	"human acute myeloid leukemia cell line established from the peripheral blood of a 65-year-old man with acute myeloid leukemia (AML FAB M4) in 1986 (DSMZ catalog number ACC 99)" []	563131	\N	\N	EFO	2	EFO	cell line	OCI-AML2
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006706	"human acute myeloid leukemia cell line established from the peripheral blood of a 65-year-old man with acute myeloid leukemia (AML FAB M4) in 1986 (DSMZ catalog number ACC 99)" []	563132	\N	\N	EFO	2	EFO	cancer cell line	OCI-AML2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006706	"human acute myeloid leukemia cell line established from the peripheral blood of a 65-year-old man with acute myeloid leukemia (AML FAB M4) in 1986 (DSMZ catalog number ACC 99)" []	2027028	\N	\N	EFO	4	EFO	material entity	OCI-AML2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006706	"human acute myeloid leukemia cell line established from the peripheral blood of a 65-year-old man with acute myeloid leukemia (AML FAB M4) in 1986 (DSMZ catalog number ACC 99)" []	1144410	\N	\N	EFO	3	EFO	cell line	OCI-AML2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006706	"human acute myeloid leukemia cell line established from the peripheral blood of a 65-year-old man with acute myeloid leukemia (AML FAB M4) in 1986 (DSMZ catalog number ACC 99)" []	2999780	\N	\N	EFO	5	EFO	experimental factor	OCI-AML2
EFO:0006707	\N	\N	"human acute myeloid leukemia cell line established from the peripheral blood of a 77-year-old man with acute myeloid leukemia (AML M4) in relapse in 1990 (DSMZ catalog number ACC 247)" []	EFO:0006707	"human acute myeloid leukemia cell line established from the peripheral blood of a 77-year-old man with acute myeloid leukemia (AML M4) in relapse in 1990 (DSMZ catalog number ACC 247)" []	67982	\N	\N	EFO	0	EFO	OCI-AML5	OCI-AML5
EFO:0002888	EFO:0006707	\N	"" []	EFO:0006707	"human acute myeloid leukemia cell line established from the peripheral blood of a 77-year-old man with acute myeloid leukemia (AML M4) in relapse in 1990 (DSMZ catalog number ACC 247)" []	209953	\N	\N	EFO	1	EFO	Homo sapiens cell line	OCI-AML5
EFO:0002937	EFO:0006707	\N	"" []	EFO:0006707	"human acute myeloid leukemia cell line established from the peripheral blood of a 77-year-old man with acute myeloid leukemia (AML M4) in relapse in 1990 (DSMZ catalog number ACC 247)" []	209954	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	OCI-AML5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006707	"human acute myeloid leukemia cell line established from the peripheral blood of a 77-year-old man with acute myeloid leukemia (AML M4) in relapse in 1990 (DSMZ catalog number ACC 247)" []	563133	\N	\N	EFO	2	EFO	cell line	OCI-AML5
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006707	"human acute myeloid leukemia cell line established from the peripheral blood of a 77-year-old man with acute myeloid leukemia (AML M4) in relapse in 1990 (DSMZ catalog number ACC 247)" []	563134	\N	\N	EFO	2	EFO	cancer cell line	OCI-AML5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006707	"human acute myeloid leukemia cell line established from the peripheral blood of a 77-year-old man with acute myeloid leukemia (AML M4) in relapse in 1990 (DSMZ catalog number ACC 247)" []	2027030	\N	\N	EFO	4	EFO	material entity	OCI-AML5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006707	"human acute myeloid leukemia cell line established from the peripheral blood of a 77-year-old man with acute myeloid leukemia (AML M4) in relapse in 1990 (DSMZ catalog number ACC 247)" []	1144412	\N	\N	EFO	3	EFO	cell line	OCI-AML5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006707	"human acute myeloid leukemia cell line established from the peripheral blood of a 77-year-old man with acute myeloid leukemia (AML M4) in relapse in 1990 (DSMZ catalog number ACC 247)" []	2999781	\N	\N	EFO	5	EFO	experimental factor	OCI-AML5
EFO:0006708	\N	\N	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 44-year-old man with B-cell non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983 (DSMZ catalog number ACC 722)" []	EFO:0006708	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 44-year-old man with B-cell non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983 (DSMZ catalog number ACC 722)" []	67983	\N	\N	EFO	0	EFO	OCI-LY10	OCI-LY10
EFO:0001639	EFO:0006708	\N	"" []	EFO:0006708	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 44-year-old man with B-cell non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983 (DSMZ catalog number ACC 722)" []	209955	\N	\N	EFO	1	EFO	cancer cell line	OCI-LY10
EFO:0002888	EFO:0006708	\N	"" []	EFO:0006708	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 44-year-old man with B-cell non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983 (DSMZ catalog number ACC 722)" []	209956	\N	\N	EFO	1	EFO	Homo sapiens cell line	OCI-LY10
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006708	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 44-year-old man with B-cell non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983 (DSMZ catalog number ACC 722)" []	563135	\N	\N	EFO	2	EFO	cell line	OCI-LY10
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006708	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 44-year-old man with B-cell non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983 (DSMZ catalog number ACC 722)" []	563136	\N	\N	EFO	2	EFO	cell line	OCI-LY10
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006708	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 44-year-old man with B-cell non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983 (DSMZ catalog number ACC 722)" []	1144413	\N	\N	EFO	3	EFO	material entity	OCI-LY10
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006708	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 44-year-old man with B-cell non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983 (DSMZ catalog number ACC 722)" []	2027031	\N	\N	EFO	4	EFO	experimental factor	OCI-LY10
EFO:0006709	\N	\N	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 27-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL) in 1987 (DSMZ catalog number ACC 528)" []	EFO:0006709	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 27-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL) in 1987 (DSMZ catalog number ACC 528)" []	67984	\N	\N	EFO	0	EFO	OCI-LY19	OCI-LY19
EFO:0001639	EFO:0006709	\N	"" []	EFO:0006709	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 27-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL) in 1987 (DSMZ catalog number ACC 528)" []	209957	\N	\N	EFO	1	EFO	cancer cell line	OCI-LY19
EFO:0002888	EFO:0006709	\N	"" []	EFO:0006709	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 27-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL) in 1987 (DSMZ catalog number ACC 528)" []	209958	\N	\N	EFO	1	EFO	Homo sapiens cell line	OCI-LY19
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006709	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 27-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL) in 1987 (DSMZ catalog number ACC 528)" []	563137	\N	\N	EFO	2	EFO	cell line	OCI-LY19
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006709	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 27-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL) in 1987 (DSMZ catalog number ACC 528)" []	563138	\N	\N	EFO	2	EFO	cell line	OCI-LY19
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006709	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 27-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL) in 1987 (DSMZ catalog number ACC 528)" []	1144414	\N	\N	EFO	3	EFO	material entity	OCI-LY19
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006709	"human B-cell non-Hodgkin lymphoma cell line established from the bone marrow of a 27-year-old woman with B-cell non-Hodgkin lymphoma (B-NHL) in 1987 (DSMZ catalog number ACC 528)" []	2027032	\N	\N	EFO	4	EFO	experimental factor	OCI-LY19
EFO:0006710	\N	\N	"human B-cell non-Hodgkin lymphoma cell line established in 1983 from the bone marrow sample of a 52-year-old man with B-cell non-Hodgkin lymphoma (DSMZ catalog number Acc 761)" []	EFO:0006710	"human B-cell non-Hodgkin lymphoma cell line established in 1983 from the bone marrow sample of a 52-year-old man with B-cell non-Hodgkin lymphoma (DSMZ catalog number Acc 761)" []	67985	\N	\N	EFO	0	EFO	OCI-LY3	OCI-LY3
EFO:0002888	EFO:0006710	\N	"" []	EFO:0006710	"human B-cell non-Hodgkin lymphoma cell line established in 1983 from the bone marrow sample of a 52-year-old man with B-cell non-Hodgkin lymphoma (DSMZ catalog number Acc 761)" []	209959	\N	\N	EFO	1	EFO	Homo sapiens cell line	OCI-LY3
EFO:0005906	EFO:0006710	\N	"non-Hodgkin lymphoma derived cell lines" []	EFO:0006710	"human B-cell non-Hodgkin lymphoma cell line established in 1983 from the bone marrow sample of a 52-year-old man with B-cell non-Hodgkin lymphoma (DSMZ catalog number Acc 761)" []	209960	\N	\N	EFO	1	EFO	B-cell non-Hodgkin lymphoma cell line	OCI-LY3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006710	"human B-cell non-Hodgkin lymphoma cell line established in 1983 from the bone marrow sample of a 52-year-old man with B-cell non-Hodgkin lymphoma (DSMZ catalog number Acc 761)" []	563139	\N	\N	EFO	2	EFO	cell line	OCI-LY3
EFO:0001639	EFO:0005906	\N	"" []	EFO:0006710	"human B-cell non-Hodgkin lymphoma cell line established in 1983 from the bone marrow sample of a 52-year-old man with B-cell non-Hodgkin lymphoma (DSMZ catalog number Acc 761)" []	563140	\N	\N	EFO	2	EFO	cancer cell line	OCI-LY3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006710	"human B-cell non-Hodgkin lymphoma cell line established in 1983 from the bone marrow sample of a 52-year-old man with B-cell non-Hodgkin lymphoma (DSMZ catalog number Acc 761)" []	2027034	\N	\N	EFO	4	EFO	material entity	OCI-LY3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006710	"human B-cell non-Hodgkin lymphoma cell line established in 1983 from the bone marrow sample of a 52-year-old man with B-cell non-Hodgkin lymphoma (DSMZ catalog number Acc 761)" []	1144416	\N	\N	EFO	3	EFO	cell line	OCI-LY3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006710	"human B-cell non-Hodgkin lymphoma cell line established in 1983 from the bone marrow sample of a 52-year-old man with B-cell non-Hodgkin lymphoma (DSMZ catalog number Acc 761)" []	2999782	\N	\N	EFO	5	EFO	experimental factor	OCI-LY3
EFO:0006711	\N	\N	"human B-cell non-Hodgkin lymphoma cell line established from the peripheral blood sample of a 48-year-old man with B-cell non-Hodgkin lymphoma in 1984 (DSMZ catalog number ACC 688)" []	EFO:0006711	"human B-cell non-Hodgkin lymphoma cell line established from the peripheral blood sample of a 48-year-old man with B-cell non-Hodgkin lymphoma in 1984 (DSMZ catalog number ACC 688)" []	67986	\N	\N	EFO	0	EFO	OCI-LY7	OCI-LY7
EFO:0002888	EFO:0006711	\N	"" []	EFO:0006711	"human B-cell non-Hodgkin lymphoma cell line established from the peripheral blood sample of a 48-year-old man with B-cell non-Hodgkin lymphoma in 1984 (DSMZ catalog number ACC 688)" []	209961	\N	\N	EFO	1	EFO	Homo sapiens cell line	OCI-LY7
EFO:0005906	EFO:0006711	\N	"non-Hodgkin lymphoma derived cell lines" []	EFO:0006711	"human B-cell non-Hodgkin lymphoma cell line established from the peripheral blood sample of a 48-year-old man with B-cell non-Hodgkin lymphoma in 1984 (DSMZ catalog number ACC 688)" []	209962	\N	\N	EFO	1	EFO	B-cell non-Hodgkin lymphoma cell line	OCI-LY7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006711	"human B-cell non-Hodgkin lymphoma cell line established from the peripheral blood sample of a 48-year-old man with B-cell non-Hodgkin lymphoma in 1984 (DSMZ catalog number ACC 688)" []	563141	\N	\N	EFO	2	EFO	cell line	OCI-LY7
EFO:0001639	EFO:0005906	\N	"" []	EFO:0006711	"human B-cell non-Hodgkin lymphoma cell line established from the peripheral blood sample of a 48-year-old man with B-cell non-Hodgkin lymphoma in 1984 (DSMZ catalog number ACC 688)" []	563142	\N	\N	EFO	2	EFO	cancer cell line	OCI-LY7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006711	"human B-cell non-Hodgkin lymphoma cell line established from the peripheral blood sample of a 48-year-old man with B-cell non-Hodgkin lymphoma in 1984 (DSMZ catalog number ACC 688)" []	2027036	\N	\N	EFO	4	EFO	material entity	OCI-LY7
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006711	"human B-cell non-Hodgkin lymphoma cell line established from the peripheral blood sample of a 48-year-old man with B-cell non-Hodgkin lymphoma in 1984 (DSMZ catalog number ACC 688)" []	1144418	\N	\N	EFO	3	EFO	cell line	OCI-LY7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006711	"human B-cell non-Hodgkin lymphoma cell line established from the peripheral blood sample of a 48-year-old man with B-cell non-Hodgkin lymphoma in 1984 (DSMZ catalog number ACC 688)" []	2999783	\N	\N	EFO	5	EFO	experimental factor	OCI-LY7
EFO:0006712	\N	\N	"human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" []	EFO:0006712	"human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" []	67987	\N	\N	EFO	0	EFO	OCI-M1	OCI-M1
EFO:0002888	EFO:0006712	\N	"" []	EFO:0006712	"human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" []	209963	\N	\N	EFO	1	EFO	Homo sapiens cell line	OCI-M1
EFO:0002937	EFO:0006712	\N	"" []	EFO:0006712	"human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" []	209964	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	OCI-M1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006712	"human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" []	563143	\N	\N	EFO	2	EFO	cell line	OCI-M1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006712	"human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" []	563144	\N	\N	EFO	2	EFO	cancer cell line	OCI-M1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006712	"human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" []	2027038	\N	\N	EFO	4	EFO	material entity	OCI-M1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006712	"human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" []	1144420	\N	\N	EFO	3	EFO	cell line	OCI-M1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006712	"human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" []	2999784	\N	\N	EFO	5	EFO	experimental factor	OCI-M1
EFO:0006713	\N	\N	"human acute myeloid leukemia cell line established in 1984 from the leukemic cells of a 56-year-old patient with erythroleukemia (DSMZ catalog number ACC 619)" []	EFO:0006713	"human acute myeloid leukemia cell line established in 1984 from the leukemic cells of a 56-year-old patient with erythroleukemia (DSMZ catalog number ACC 619)" []	67988	\N	\N	EFO	0	EFO	OCI-M2	OCI-M2
EFO:0002888	EFO:0006713	\N	"" []	EFO:0006713	"human acute myeloid leukemia cell line established in 1984 from the leukemic cells of a 56-year-old patient with erythroleukemia (DSMZ catalog number ACC 619)" []	209965	\N	\N	EFO	1	EFO	Homo sapiens cell line	OCI-M2
EFO:0002937	EFO:0006713	\N	"" []	EFO:0006713	"human acute myeloid leukemia cell line established in 1984 from the leukemic cells of a 56-year-old patient with erythroleukemia (DSMZ catalog number ACC 619)" []	209966	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	OCI-M2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006713	"human acute myeloid leukemia cell line established in 1984 from the leukemic cells of a 56-year-old patient with erythroleukemia (DSMZ catalog number ACC 619)" []	563145	\N	\N	EFO	2	EFO	cell line	OCI-M2
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006713	"human acute myeloid leukemia cell line established in 1984 from the leukemic cells of a 56-year-old patient with erythroleukemia (DSMZ catalog number ACC 619)" []	563146	\N	\N	EFO	2	EFO	cancer cell line	OCI-M2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006713	"human acute myeloid leukemia cell line established in 1984 from the leukemic cells of a 56-year-old patient with erythroleukemia (DSMZ catalog number ACC 619)" []	2027040	\N	\N	EFO	4	EFO	material entity	OCI-M2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006713	"human acute myeloid leukemia cell line established in 1984 from the leukemic cells of a 56-year-old patient with erythroleukemia (DSMZ catalog number ACC 619)" []	1144422	\N	\N	EFO	3	EFO	cell line	OCI-M2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006713	"human acute myeloid leukemia cell line established in 1984 from the leukemic cells of a 56-year-old patient with erythroleukemia (DSMZ catalog number ACC 619)" []	2999785	\N	\N	EFO	5	EFO	experimental factor	OCI-M2
EFO:0006714	\N	\N	"human stomach adenocarcinoma cell line from a 38 year old Japanese adult" []	EFO:0006714	"human stomach adenocarcinoma cell line from a 38 year old Japanese adult" []	67989	\N	\N	EFO	0	EFO	OCUM-1	OCUM-1
EFO:0001639	EFO:0006714	\N	"" []	EFO:0006714	"human stomach adenocarcinoma cell line from a 38 year old Japanese adult" []	209967	\N	\N	EFO	1	EFO	cancer cell line	OCUM-1
EFO:0002888	EFO:0006714	\N	"" []	EFO:0006714	"human stomach adenocarcinoma cell line from a 38 year old Japanese adult" []	209968	\N	\N	EFO	1	EFO	Homo sapiens cell line	OCUM-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006714	"human stomach adenocarcinoma cell line from a 38 year old Japanese adult" []	563147	\N	\N	EFO	2	EFO	cell line	OCUM-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006714	"human stomach adenocarcinoma cell line from a 38 year old Japanese adult" []	563148	\N	\N	EFO	2	EFO	cell line	OCUM-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006714	"human stomach adenocarcinoma cell line from a 38 year old Japanese adult" []	1144423	\N	\N	EFO	3	EFO	material entity	OCUM-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006714	"human stomach adenocarcinoma cell line from a 38 year old Japanese adult" []	2027041	\N	\N	EFO	4	EFO	experimental factor	OCUM-1
EFO:0006715	\N	\N	"human stomach adenocarcinoma cell line" []	EFO:0006715	"human stomach adenocarcinoma cell line" []	67990	\N	\N	EFO	0	EFO	Okajima	Okajima
EFO:0001639	EFO:0006715	\N	"" []	EFO:0006715	"human stomach adenocarcinoma cell line" []	209969	\N	\N	EFO	1	EFO	cancer cell line	Okajima
EFO:0002888	EFO:0006715	\N	"" []	EFO:0006715	"human stomach adenocarcinoma cell line" []	209970	\N	\N	EFO	1	EFO	Homo sapiens cell line	Okajima
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006715	"human stomach adenocarcinoma cell line" []	563149	\N	\N	EFO	2	EFO	cell line	Okajima
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006715	"human stomach adenocarcinoma cell line" []	563150	\N	\N	EFO	2	EFO	cell line	Okajima
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006715	"human stomach adenocarcinoma cell line" []	1144424	\N	\N	EFO	3	EFO	material entity	Okajima
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006715	"human stomach adenocarcinoma cell line" []	2027042	\N	\N	EFO	4	EFO	experimental factor	Okajima
EFO:0006716	\N	\N	"human multiple myeloma cell line established from the peripheral blood of a 56-year-old woman with multiple myeloma (IgG lambda) in leukemic phase (relapse, terminal) in 1982 (DSMZ catalog number ACC 50)" []	EFO:0006716	"human multiple myeloma cell line established from the peripheral blood of a 56-year-old woman with multiple myeloma (IgG lambda) in leukemic phase (relapse, terminal) in 1982 (DSMZ catalog number ACC 50)" []	67991	\N	\N	EFO	0	EFO	OPM-2	OPM-2
EFO:0001639	EFO:0006716	\N	"" []	EFO:0006716	"human multiple myeloma cell line established from the peripheral blood of a 56-year-old woman with multiple myeloma (IgG lambda) in leukemic phase (relapse, terminal) in 1982 (DSMZ catalog number ACC 50)" []	209971	\N	\N	EFO	1	EFO	cancer cell line	OPM-2
EFO:0002888	EFO:0006716	\N	"" []	EFO:0006716	"human multiple myeloma cell line established from the peripheral blood of a 56-year-old woman with multiple myeloma (IgG lambda) in leukemic phase (relapse, terminal) in 1982 (DSMZ catalog number ACC 50)" []	209972	\N	\N	EFO	1	EFO	Homo sapiens cell line	OPM-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006716	"human multiple myeloma cell line established from the peripheral blood of a 56-year-old woman with multiple myeloma (IgG lambda) in leukemic phase (relapse, terminal) in 1982 (DSMZ catalog number ACC 50)" []	563151	\N	\N	EFO	2	EFO	cell line	OPM-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006716	"human multiple myeloma cell line established from the peripheral blood of a 56-year-old woman with multiple myeloma (IgG lambda) in leukemic phase (relapse, terminal) in 1982 (DSMZ catalog number ACC 50)" []	563152	\N	\N	EFO	2	EFO	cell line	OPM-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006716	"human multiple myeloma cell line established from the peripheral blood of a 56-year-old woman with multiple myeloma (IgG lambda) in leukemic phase (relapse, terminal) in 1982 (DSMZ catalog number ACC 50)" []	1144425	\N	\N	EFO	3	EFO	material entity	OPM-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006716	"human multiple myeloma cell line established from the peripheral blood of a 56-year-old woman with multiple myeloma (IgG lambda) in leukemic phase (relapse, terminal) in 1982 (DSMZ catalog number ACC 50)" []	2027043	\N	\N	EFO	4	EFO	experimental factor	OPM-2
EFO:0006717	\N	\N	"human colon adenocarcinoma cell line established from a male" []	EFO:0006717	"human colon adenocarcinoma cell line established from a male" []	67992	\N	\N	EFO	0	EFO	OUMS-23	OUMS-23
BTO:0000797	\N	\N	"" []	EFO:0006717	"human colon adenocarcinoma cell line established from a male" []	194803	\N	\N	EFO	0	EFO	colonic cancer cell line	OUMS-23
EFO:0001639	EFO:0006717	\N	"" []	EFO:0006717	"human colon adenocarcinoma cell line established from a male" []	209973	\N	\N	EFO	1	EFO	cancer cell line	OUMS-23
EFO:0002888	EFO:0006717	\N	"" []	EFO:0006717	"human colon adenocarcinoma cell line established from a male" []	209974	\N	\N	EFO	1	EFO	Homo sapiens cell line	OUMS-23
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006717	"human colon adenocarcinoma cell line established from a male" []	563153	\N	\N	EFO	2	EFO	cell line	OUMS-23
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006717	"human colon adenocarcinoma cell line established from a male" []	563154	\N	\N	EFO	2	EFO	cell line	OUMS-23
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006717	"human colon adenocarcinoma cell line established from a male" []	1144426	\N	\N	EFO	3	EFO	material entity	OUMS-23
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006717	"human colon adenocarcinoma cell line established from a male" []	2027044	\N	\N	EFO	4	EFO	experimental factor	OUMS-23
EFO:0006718	\N	\N	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	67993	\N	\N	EFO	0	EFO	ovarian leiomyosarcoma	ovarian leiomyosarcoma
EFO:0000564	EFO:0006718	\N	"An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women.  It is characterized by a proliferation of neoplastic spindle cells.  Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	209975	\N	\N	EFO	1	EFO	leiomyosarcoma	ovarian leiomyosarcoma
EFO:0003893	EFO:0006718	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	209976	\N	\N	EFO	1	EFO	ovarian neoplasm	ovarian leiomyosarcoma
EFO:0000691	EFO:0000564	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	563155	\N	\N	EFO	2	EFO	sarcoma	ovarian leiomyosarcoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	563156	\N	\N	EFO	2	EFO	urogenital neoplasm	ovarian leiomyosarcoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	563157	\N	\N	EFO	2	EFO	ovarian disease	ovarian leiomyosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	1144427	\N	\N	EFO	3	EFO	cancer	ovarian leiomyosarcoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	1144428	\N	\N	EFO	3	EFO	neoplasm	ovarian leiomyosarcoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	1144429	\N	\N	EFO	3	EFO	reproductive system disease	ovarian leiomyosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	2027045	\N	\N	EFO	4	EFO	neoplasm	ovarian leiomyosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	3178725	\N	\N	EFO	5	EFO	disease	ovarian leiomyosarcoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	2027047	\N	\N	EFO	4	EFO	disease	ovarian leiomyosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	4132695	\N	\N	EFO	6	EFO	disposition	ovarian leiomyosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	5181017	\N	\N	EFO	7	EFO	material property	ovarian leiomyosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006718	"An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells" []	5996622	\N	\N	EFO	8	EFO	experimental factor	ovarian leiomyosarcoma
EFO:0006719	\N	\N	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	67994	\N	\N	EFO	0	EFO	mesonephric adenocarcinoma	mesonephric adenocarcinoma
EFO:0000228	EFO:0006719	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	209977	\N	\N	EFO	1	EFO	adenocarcinoma	mesonephric adenocarcinoma
EFO:0003893	EFO:0006719	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	209978	\N	\N	EFO	1	EFO	ovarian neoplasm	mesonephric adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	563158	\N	\N	EFO	2	EFO	carcinoma	mesonephric adenocarcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	563159	\N	\N	EFO	2	EFO	urogenital neoplasm	mesonephric adenocarcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	563160	\N	\N	EFO	2	EFO	ovarian disease	mesonephric adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	1144430	\N	\N	EFO	3	EFO	cancer	mesonephric adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	1144431	\N	\N	EFO	3	EFO	epithelial neoplasm	mesonephric adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	1144432	\N	\N	EFO	3	EFO	neoplasm	mesonephric adenocarcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	1144433	\N	\N	EFO	3	EFO	reproductive system disease	mesonephric adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	2027048	\N	\N	EFO	4	EFO	neoplasm	mesonephric adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	2027049	\N	\N	EFO	4	EFO	neoplasm	mesonephric adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	3178727	\N	\N	EFO	5	EFO	disease	mesonephric adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	2027051	\N	\N	EFO	4	EFO	disease	mesonephric adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	4132696	\N	\N	EFO	6	EFO	disposition	mesonephric adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	5181018	\N	\N	EFO	7	EFO	material property	mesonephric adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006719	"An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." []	5996623	\N	\N	EFO	8	EFO	experimental factor	mesonephric adenocarcinoma
EFO:0006720	\N	\N	"human ovarian carcinoma cell line established from a female" []	EFO:0006720	"human ovarian carcinoma cell line established from a female" []	67995	\N	\N	EFO	0	EFO	OVCA420	OVCA420
EFO:0002394	EFO:0006720	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006720	"human ovarian carcinoma cell line established from a female" []	209979	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVCA420
EFO:0002888	EFO:0006720	\N	"" []	EFO:0006720	"human ovarian carcinoma cell line established from a female" []	209980	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVCA420
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006720	"human ovarian carcinoma cell line established from a female" []	563161	\N	\N	EFO	2	EFO	cancer cell line	OVCA420
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006720	"human ovarian carcinoma cell line established from a female" []	563162	\N	\N	EFO	2	EFO	cell line	OVCA420
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006720	"human ovarian carcinoma cell line established from a female" []	1144434	\N	\N	EFO	3	EFO	cell line	OVCA420
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006720	"human ovarian carcinoma cell line established from a female" []	2027052	\N	\N	EFO	4	EFO	material entity	OVCA420
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006720	"human ovarian carcinoma cell line established from a female" []	2999786	\N	\N	EFO	5	EFO	experimental factor	OVCA420
EFO:0006721	\N	\N	"human ovarian adenocarcinoma cell line established from a female" []	EFO:0006721	"human ovarian adenocarcinoma cell line established from a female" []	67996	\N	\N	EFO	0	EFO	OVCA429	OVCA429
EFO:0002394	EFO:0006721	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006721	"human ovarian adenocarcinoma cell line established from a female" []	209981	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVCA429
EFO:0002888	EFO:0006721	\N	"" []	EFO:0006721	"human ovarian adenocarcinoma cell line established from a female" []	209982	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVCA429
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006721	"human ovarian adenocarcinoma cell line established from a female" []	563163	\N	\N	EFO	2	EFO	cancer cell line	OVCA429
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006721	"human ovarian adenocarcinoma cell line established from a female" []	563164	\N	\N	EFO	2	EFO	cell line	OVCA429
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006721	"human ovarian adenocarcinoma cell line established from a female" []	1144436	\N	\N	EFO	3	EFO	cell line	OVCA429
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006721	"human ovarian adenocarcinoma cell line established from a female" []	2027054	\N	\N	EFO	4	EFO	material entity	OVCA429
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006721	"human ovarian adenocarcinoma cell line established from a female" []	2999787	\N	\N	EFO	5	EFO	experimental factor	OVCA429
EFO:0006722	\N	\N	"human ovarian carcinoma cell line established from a female" []	EFO:0006722	"human ovarian carcinoma cell line established from a female" []	67997	\N	\N	EFO	0	EFO	OVCA432	OVCA432
EFO:0002394	EFO:0006722	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006722	"human ovarian carcinoma cell line established from a female" []	209983	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVCA432
EFO:0002888	EFO:0006722	\N	"" []	EFO:0006722	"human ovarian carcinoma cell line established from a female" []	209984	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVCA432
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006722	"human ovarian carcinoma cell line established from a female" []	563165	\N	\N	EFO	2	EFO	cancer cell line	OVCA432
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006722	"human ovarian carcinoma cell line established from a female" []	563166	\N	\N	EFO	2	EFO	cell line	OVCA432
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006722	"human ovarian carcinoma cell line established from a female" []	1144438	\N	\N	EFO	3	EFO	cell line	OVCA432
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006722	"human ovarian carcinoma cell line established from a female" []	2027056	\N	\N	EFO	4	EFO	material entity	OVCA432
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006722	"human ovarian carcinoma cell line established from a female" []	2999788	\N	\N	EFO	5	EFO	experimental factor	OVCA432
EFO:0006723	\N	\N	"human ovarian carcinoma cell line" []	EFO:0006723	"human ovarian carcinoma cell line" []	67998	\N	\N	EFO	0	EFO	OVCA433	OVCA433
EFO:0002394	EFO:0006723	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006723	"human ovarian carcinoma cell line" []	209985	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVCA433
EFO:0002888	EFO:0006723	\N	"" []	EFO:0006723	"human ovarian carcinoma cell line" []	209986	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVCA433
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006723	"human ovarian carcinoma cell line" []	563167	\N	\N	EFO	2	EFO	cancer cell line	OVCA433
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006723	"human ovarian carcinoma cell line" []	563168	\N	\N	EFO	2	EFO	cell line	OVCA433
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006723	"human ovarian carcinoma cell line" []	1144440	\N	\N	EFO	3	EFO	cell line	OVCA433
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006723	"human ovarian carcinoma cell line" []	2027058	\N	\N	EFO	4	EFO	material entity	OVCA433
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006723	"human ovarian carcinoma cell line" []	2999789	\N	\N	EFO	5	EFO	experimental factor	OVCA433
EFO:0006724	\N	\N	"human ovarian carcinoma cell line from a 40 year old Japanese female" []	EFO:0006724	"human ovarian carcinoma cell line from a 40 year old Japanese female" []	67999	\N	\N	EFO	0	EFO	OVISE	OVISE
EFO:0001641	EFO:0006724	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006724	"human ovarian carcinoma cell line from a 40 year old Japanese female" []	209987	\N	\N	EFO	1	EFO	epithelial cell derived cell line	OVISE
EFO:0002394	EFO:0006724	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006724	"human ovarian carcinoma cell line from a 40 year old Japanese female" []	209988	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVISE
EFO:0002888	EFO:0006724	\N	"" []	EFO:0006724	"human ovarian carcinoma cell line from a 40 year old Japanese female" []	209989	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVISE
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006724	"human ovarian carcinoma cell line from a 40 year old Japanese female" []	563169	\N	\N	EFO	2	EFO	cell line	OVISE
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006724	"human ovarian carcinoma cell line from a 40 year old Japanese female" []	563170	\N	\N	EFO	2	EFO	cancer cell line	OVISE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006724	"human ovarian carcinoma cell line from a 40 year old Japanese female" []	563171	\N	\N	EFO	2	EFO	cell line	OVISE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006724	"human ovarian carcinoma cell line from a 40 year old Japanese female" []	2027061	\N	\N	EFO	4	EFO	material entity	OVISE
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006724	"human ovarian carcinoma cell line from a 40 year old Japanese female" []	1144443	\N	\N	EFO	3	EFO	cell line	OVISE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006724	"human ovarian carcinoma cell line from a 40 year old Japanese female" []	2999790	\N	\N	EFO	5	EFO	experimental factor	OVISE
EFO:0006725	\N	\N	"human ovarian adenocarcinoma cell line from a 40 year old Japanese female" []	EFO:0006725	"human ovarian adenocarcinoma cell line from a 40 year old Japanese female" []	68000	\N	\N	EFO	0	EFO	OVKATE	OVKATE
EFO:0001641	EFO:0006725	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006725	"human ovarian adenocarcinoma cell line from a 40 year old Japanese female" []	209990	\N	\N	EFO	1	EFO	epithelial cell derived cell line	OVKATE
EFO:0002394	EFO:0006725	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006725	"human ovarian adenocarcinoma cell line from a 40 year old Japanese female" []	209991	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVKATE
EFO:0002888	EFO:0006725	\N	"" []	EFO:0006725	"human ovarian adenocarcinoma cell line from a 40 year old Japanese female" []	209992	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVKATE
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006725	"human ovarian adenocarcinoma cell line from a 40 year old Japanese female" []	563172	\N	\N	EFO	2	EFO	cell line	OVKATE
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006725	"human ovarian adenocarcinoma cell line from a 40 year old Japanese female" []	563173	\N	\N	EFO	2	EFO	cancer cell line	OVKATE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006725	"human ovarian adenocarcinoma cell line from a 40 year old Japanese female" []	563174	\N	\N	EFO	2	EFO	cell line	OVKATE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006725	"human ovarian adenocarcinoma cell line from a 40 year old Japanese female" []	2027063	\N	\N	EFO	4	EFO	material entity	OVKATE
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006725	"human ovarian adenocarcinoma cell line from a 40 year old Japanese female" []	1144445	\N	\N	EFO	3	EFO	cell line	OVKATE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006725	"human ovarian adenocarcinoma cell line from a 40 year old Japanese female" []	2999791	\N	\N	EFO	5	EFO	experimental factor	OVKATE
EFO:0006726	\N	\N	"human ovarian adenocarcinoma cell line from a 51 year old Japanese female" []	EFO:0006726	"human ovarian adenocarcinoma cell line from a 51 year old Japanese female" []	68001	\N	\N	EFO	0	EFO	OVMANA	OVMANA
EFO:0001641	EFO:0006726	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006726	"human ovarian adenocarcinoma cell line from a 51 year old Japanese female" []	209993	\N	\N	EFO	1	EFO	epithelial cell derived cell line	OVMANA
EFO:0002394	EFO:0006726	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006726	"human ovarian adenocarcinoma cell line from a 51 year old Japanese female" []	209994	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVMANA
EFO:0002888	EFO:0006726	\N	"" []	EFO:0006726	"human ovarian adenocarcinoma cell line from a 51 year old Japanese female" []	209995	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVMANA
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006726	"human ovarian adenocarcinoma cell line from a 51 year old Japanese female" []	563175	\N	\N	EFO	2	EFO	cell line	OVMANA
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006726	"human ovarian adenocarcinoma cell line from a 51 year old Japanese female" []	563176	\N	\N	EFO	2	EFO	cancer cell line	OVMANA
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006726	"human ovarian adenocarcinoma cell line from a 51 year old Japanese female" []	563177	\N	\N	EFO	2	EFO	cell line	OVMANA
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006726	"human ovarian adenocarcinoma cell line from a 51 year old Japanese female" []	2027065	\N	\N	EFO	4	EFO	material entity	OVMANA
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006726	"human ovarian adenocarcinoma cell line from a 51 year old Japanese female" []	1144447	\N	\N	EFO	3	EFO	cell line	OVMANA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006726	"human ovarian adenocarcinoma cell line from a 51 year old Japanese female" []	2999792	\N	\N	EFO	5	EFO	experimental factor	OVMANA
EFO:0006727	\N	\N	"human ovarian adenocarcinoma cell line from a 56 year old Japanese female" []	EFO:0006727	"human ovarian adenocarcinoma cell line from a 56 year old Japanese female" []	68002	\N	\N	EFO	0	EFO	OVSAHO	OVSAHO
EFO:0001641	EFO:0006727	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006727	"human ovarian adenocarcinoma cell line from a 56 year old Japanese female" []	209996	\N	\N	EFO	1	EFO	epithelial cell derived cell line	OVSAHO
EFO:0002394	EFO:0006727	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006727	"human ovarian adenocarcinoma cell line from a 56 year old Japanese female" []	209997	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVSAHO
EFO:0002888	EFO:0006727	\N	"" []	EFO:0006727	"human ovarian adenocarcinoma cell line from a 56 year old Japanese female" []	209998	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVSAHO
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006727	"human ovarian adenocarcinoma cell line from a 56 year old Japanese female" []	563178	\N	\N	EFO	2	EFO	cell line	OVSAHO
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006727	"human ovarian adenocarcinoma cell line from a 56 year old Japanese female" []	563179	\N	\N	EFO	2	EFO	cancer cell line	OVSAHO
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006727	"human ovarian adenocarcinoma cell line from a 56 year old Japanese female" []	563180	\N	\N	EFO	2	EFO	cell line	OVSAHO
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006727	"human ovarian adenocarcinoma cell line from a 56 year old Japanese female" []	2027067	\N	\N	EFO	4	EFO	material entity	OVSAHO
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006727	"human ovarian adenocarcinoma cell line from a 56 year old Japanese female" []	1144449	\N	\N	EFO	3	EFO	cell line	OVSAHO
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006727	"human ovarian adenocarcinoma cell line from a 56 year old Japanese female" []	2999793	\N	\N	EFO	5	EFO	experimental factor	OVSAHO
EFO:0006728	\N	\N	"human ovarian adenocarcinoma cell line from a 78 year old Japanese female" []	EFO:0006728	"human ovarian adenocarcinoma cell line from a 78 year old Japanese female" []	68003	\N	\N	EFO	0	EFO	OVTOKO	OVTOKO
EFO:0001641	EFO:0006728	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006728	"human ovarian adenocarcinoma cell line from a 78 year old Japanese female" []	209999	\N	\N	EFO	1	EFO	epithelial cell derived cell line	OVTOKO
EFO:0002394	EFO:0006728	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006728	"human ovarian adenocarcinoma cell line from a 78 year old Japanese female" []	210000	\N	\N	EFO	1	EFO	ovarian cancer cell lines	OVTOKO
EFO:0002888	EFO:0006728	\N	"" []	EFO:0006728	"human ovarian adenocarcinoma cell line from a 78 year old Japanese female" []	210001	\N	\N	EFO	1	EFO	Homo sapiens cell line	OVTOKO
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006728	"human ovarian adenocarcinoma cell line from a 78 year old Japanese female" []	563181	\N	\N	EFO	2	EFO	cell line	OVTOKO
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006728	"human ovarian adenocarcinoma cell line from a 78 year old Japanese female" []	563182	\N	\N	EFO	2	EFO	cancer cell line	OVTOKO
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006728	"human ovarian adenocarcinoma cell line from a 78 year old Japanese female" []	563183	\N	\N	EFO	2	EFO	cell line	OVTOKO
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006728	"human ovarian adenocarcinoma cell line from a 78 year old Japanese female" []	2027069	\N	\N	EFO	4	EFO	material entity	OVTOKO
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006728	"human ovarian adenocarcinoma cell line from a 78 year old Japanese female" []	1144451	\N	\N	EFO	3	EFO	cell line	OVTOKO
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006728	"human ovarian adenocarcinoma cell line from a 78 year old Japanese female" []	2999794	\N	\N	EFO	5	EFO	experimental factor	OVTOKO
EFO:0006729	\N	\N	"human pancreatic adenocarcinoma cell line" []	EFO:0006729	"human pancreatic adenocarcinoma cell line" []	68004	\N	\N	EFO	0	EFO	PA-TU-8902	PA-TU-8902
EFO:0001639	EFO:0006729	\N	"" []	EFO:0006729	"human pancreatic adenocarcinoma cell line" []	210002	\N	\N	EFO	1	EFO	cancer cell line	PA-TU-8902
EFO:0002888	EFO:0006729	\N	"" []	EFO:0006729	"human pancreatic adenocarcinoma cell line" []	210003	\N	\N	EFO	1	EFO	Homo sapiens cell line	PA-TU-8902
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006729	"human pancreatic adenocarcinoma cell line" []	563184	\N	\N	EFO	2	EFO	cell line	PA-TU-8902
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006729	"human pancreatic adenocarcinoma cell line" []	563185	\N	\N	EFO	2	EFO	cell line	PA-TU-8902
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006729	"human pancreatic adenocarcinoma cell line" []	1144452	\N	\N	EFO	3	EFO	material entity	PA-TU-8902
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006729	"human pancreatic adenocarcinoma cell line" []	2027070	\N	\N	EFO	4	EFO	experimental factor	PA-TU-8902
EFO:0006730	\N	\N	"human pancreatic adenocarcinoma cell line from a 64 year old female" []	EFO:0006730	"human pancreatic adenocarcinoma cell line from a 64 year old female" []	68005	\N	\N	EFO	0	EFO	PA-TU-8988S	PA-TU-8988S
EFO:0001639	EFO:0006730	\N	"" []	EFO:0006730	"human pancreatic adenocarcinoma cell line from a 64 year old female" []	210004	\N	\N	EFO	1	EFO	cancer cell line	PA-TU-8988S
EFO:0002888	EFO:0006730	\N	"" []	EFO:0006730	"human pancreatic adenocarcinoma cell line from a 64 year old female" []	210005	\N	\N	EFO	1	EFO	Homo sapiens cell line	PA-TU-8988S
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006730	"human pancreatic adenocarcinoma cell line from a 64 year old female" []	563186	\N	\N	EFO	2	EFO	cell line	PA-TU-8988S
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006730	"human pancreatic adenocarcinoma cell line from a 64 year old female" []	563187	\N	\N	EFO	2	EFO	cell line	PA-TU-8988S
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006730	"human pancreatic adenocarcinoma cell line from a 64 year old female" []	1144453	\N	\N	EFO	3	EFO	material entity	PA-TU-8988S
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006730	"human pancreatic adenocarcinoma cell line from a 64 year old female" []	2027071	\N	\N	EFO	4	EFO	experimental factor	PA-TU-8988S
EFO:0006732	\N	\N	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	68006	\N	\N	EFO	0	EFO	pancreatic adenosquamous carcinoma	pancreatic adenosquamous carcinoma
EFO:0000707	EFO:0006732	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	210006	\N	\N	EFO	1	EFO	squamous cell carcinoma	pancreatic adenosquamous carcinoma
EFO:0002618	EFO:0006732	\N	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	210007	\N	\N	EFO	1	EFO	pancreatic carcinoma	pancreatic adenosquamous carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	563188	\N	\N	EFO	2	EFO	carcinoma	pancreatic adenosquamous carcinoma
EFO:0000313	EFO:0002618	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	563189	\N	\N	EFO	2	EFO	carcinoma	pancreatic adenosquamous carcinoma
EFO:0003860	EFO:0002618	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	563190	\N	\N	EFO	2	EFO	pancreatic neoplasm	pancreatic adenosquamous carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	1144454	\N	\N	EFO	3	EFO	cancer	pancreatic adenosquamous carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	1144455	\N	\N	EFO	3	EFO	epithelial neoplasm	pancreatic adenosquamous carcinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	1144456	\N	\N	EFO	3	EFO	endocrine neoplasm	pancreatic adenosquamous carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	2027072	\N	\N	EFO	4	EFO	neoplasm	pancreatic adenosquamous carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	2027073	\N	\N	EFO	4	EFO	neoplasm	pancreatic adenosquamous carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	2027074	\N	\N	EFO	4	EFO	neoplasm	pancreatic adenosquamous carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	2027075	\N	\N	EFO	4	EFO	endocrine system disease	pancreatic adenosquamous carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	3178729	\N	\N	EFO	5	EFO	disease	pancreatic adenosquamous carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	3178730	\N	\N	EFO	5	EFO	disease	pancreatic adenosquamous carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	4388373	\N	\N	EFO	6	EFO	disposition	pancreatic adenosquamous carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	5408873	\N	\N	EFO	7	EFO	material property	pancreatic adenosquamous carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006732	"A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." []	6147522	\N	\N	EFO	8	EFO	experimental factor	pancreatic adenosquamous carcinoma
EFO:0006733	\N	\N	"human oral squamous carcinoma cell line established from tongue tissue of a 45 year old male patient with oral squamous cell carcinoma (Sigma catalog number 96121230)" []	EFO:0006733	"human oral squamous carcinoma cell line established from tongue tissue of a 45 year old male patient with oral squamous cell carcinoma (Sigma catalog number 96121230)" []	68007	\N	\N	EFO	0	EFO	PE/CA-PJ15	PE/CA-PJ15
EFO:0001639	EFO:0006733	\N	"" []	EFO:0006733	"human oral squamous carcinoma cell line established from tongue tissue of a 45 year old male patient with oral squamous cell carcinoma (Sigma catalog number 96121230)" []	210008	\N	\N	EFO	1	EFO	cancer cell line	PE/CA-PJ15
EFO:0001641	EFO:0006733	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006733	"human oral squamous carcinoma cell line established from tongue tissue of a 45 year old male patient with oral squamous cell carcinoma (Sigma catalog number 96121230)" []	210009	\N	\N	EFO	1	EFO	epithelial cell derived cell line	PE/CA-PJ15
EFO:0002888	EFO:0006733	\N	"" []	EFO:0006733	"human oral squamous carcinoma cell line established from tongue tissue of a 45 year old male patient with oral squamous cell carcinoma (Sigma catalog number 96121230)" []	210010	\N	\N	EFO	1	EFO	Homo sapiens cell line	PE/CA-PJ15
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006733	"human oral squamous carcinoma cell line established from tongue tissue of a 45 year old male patient with oral squamous cell carcinoma (Sigma catalog number 96121230)" []	563191	\N	\N	EFO	2	EFO	cell line	PE/CA-PJ15
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006733	"human oral squamous carcinoma cell line established from tongue tissue of a 45 year old male patient with oral squamous cell carcinoma (Sigma catalog number 96121230)" []	563192	\N	\N	EFO	2	EFO	cell line	PE/CA-PJ15
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006733	"human oral squamous carcinoma cell line established from tongue tissue of a 45 year old male patient with oral squamous cell carcinoma (Sigma catalog number 96121230)" []	563193	\N	\N	EFO	2	EFO	cell line	PE/CA-PJ15
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006733	"human oral squamous carcinoma cell line established from tongue tissue of a 45 year old male patient with oral squamous cell carcinoma (Sigma catalog number 96121230)" []	1144457	\N	\N	EFO	3	EFO	material entity	PE/CA-PJ15
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006733	"human oral squamous carcinoma cell line established from tongue tissue of a 45 year old male patient with oral squamous cell carcinoma (Sigma catalog number 96121230)" []	2027076	\N	\N	EFO	4	EFO	experimental factor	PE/CA-PJ15
EFO:0006734	\N	\N	"human pancreatic carcinoma cell line" []	EFO:0006734	"human pancreatic carcinoma cell line" []	68008	\N	\N	EFO	0	EFO	PK-45H	PK-45H
EFO:0001639	EFO:0006734	\N	"" []	EFO:0006734	"human pancreatic carcinoma cell line" []	210011	\N	\N	EFO	1	EFO	cancer cell line	PK-45H
EFO:0002888	EFO:0006734	\N	"" []	EFO:0006734	"human pancreatic carcinoma cell line" []	210012	\N	\N	EFO	1	EFO	Homo sapiens cell line	PK-45H
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006734	"human pancreatic carcinoma cell line" []	563194	\N	\N	EFO	2	EFO	cell line	PK-45H
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006734	"human pancreatic carcinoma cell line" []	563195	\N	\N	EFO	2	EFO	cell line	PK-45H
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006734	"human pancreatic carcinoma cell line" []	1144458	\N	\N	EFO	3	EFO	material entity	PK-45H
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006734	"human pancreatic carcinoma cell line" []	2027077	\N	\N	EFO	4	EFO	experimental factor	PK-45H
EFO:0006735	\N	\N	"human pancreatic carcinoma cell line" []	EFO:0006735	"human pancreatic carcinoma cell line" []	68009	\N	\N	EFO	0	EFO	PK-45P	PK-45P
EFO:0001639	EFO:0006735	\N	"" []	EFO:0006735	"human pancreatic carcinoma cell line" []	210013	\N	\N	EFO	1	EFO	cancer cell line	PK-45P
EFO:0001641	EFO:0006735	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006735	"human pancreatic carcinoma cell line" []	210014	\N	\N	EFO	1	EFO	epithelial cell derived cell line	PK-45P
EFO:0002888	EFO:0006735	\N	"" []	EFO:0006735	"human pancreatic carcinoma cell line" []	210015	\N	\N	EFO	1	EFO	Homo sapiens cell line	PK-45P
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006735	"human pancreatic carcinoma cell line" []	563196	\N	\N	EFO	2	EFO	cell line	PK-45P
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006735	"human pancreatic carcinoma cell line" []	563197	\N	\N	EFO	2	EFO	cell line	PK-45P
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006735	"human pancreatic carcinoma cell line" []	563198	\N	\N	EFO	2	EFO	cell line	PK-45P
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006735	"human pancreatic carcinoma cell line" []	1144459	\N	\N	EFO	3	EFO	material entity	PK-45P
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006735	"human pancreatic carcinoma cell line" []	2027078	\N	\N	EFO	4	EFO	experimental factor	PK-45P
EFO:0006736	\N	\N	"human pancreatic carcinoma cell line" []	EFO:0006736	"human pancreatic carcinoma cell line" []	68010	\N	\N	EFO	0	EFO	PK-59	PK-59
EFO:0001639	EFO:0006736	\N	"" []	EFO:0006736	"human pancreatic carcinoma cell line" []	210016	\N	\N	EFO	1	EFO	cancer cell line	PK-59
EFO:0001641	EFO:0006736	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006736	"human pancreatic carcinoma cell line" []	210017	\N	\N	EFO	1	EFO	epithelial cell derived cell line	PK-59
EFO:0002888	EFO:0006736	\N	"" []	EFO:0006736	"human pancreatic carcinoma cell line" []	210018	\N	\N	EFO	1	EFO	Homo sapiens cell line	PK-59
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006736	"human pancreatic carcinoma cell line" []	563199	\N	\N	EFO	2	EFO	cell line	PK-59
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006736	"human pancreatic carcinoma cell line" []	563200	\N	\N	EFO	2	EFO	cell line	PK-59
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006736	"human pancreatic carcinoma cell line" []	563201	\N	\N	EFO	2	EFO	cell line	PK-59
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006736	"human pancreatic carcinoma cell line" []	1144460	\N	\N	EFO	3	EFO	material entity	PK-59
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006736	"human pancreatic carcinoma cell line" []	2027079	\N	\N	EFO	4	EFO	experimental factor	PK-59
EFO:0006737	\N	\N	"human pancreatic carcinoma cell line" []	EFO:0006737	"human pancreatic carcinoma cell line" []	68011	\N	\N	EFO	0	EFO	PK-8	PK-8
EFO:0001639	EFO:0006737	\N	"" []	EFO:0006737	"human pancreatic carcinoma cell line" []	210019	\N	\N	EFO	1	EFO	cancer cell line	PK-8
EFO:0002888	EFO:0006737	\N	"" []	EFO:0006737	"human pancreatic carcinoma cell line" []	210020	\N	\N	EFO	1	EFO	Homo sapiens cell line	PK-8
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006737	"human pancreatic carcinoma cell line" []	563202	\N	\N	EFO	2	EFO	cell line	PK-8
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006737	"human pancreatic carcinoma cell line" []	563203	\N	\N	EFO	2	EFO	cell line	PK-8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006737	"human pancreatic carcinoma cell line" []	1144461	\N	\N	EFO	3	EFO	material entity	PK-8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006737	"human pancreatic carcinoma cell line" []	2027080	\N	\N	EFO	4	EFO	experimental factor	PK-8
EFO:0006738	\N	\N	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	EFO:0006738	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	68012	\N	\N	EFO	0	EFO	plasmacytoma	plasmacytoma
EFO:0000200	EFO:0006738	\N	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	EFO:0006738	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	210021	\N	\N	EFO	1	EFO	plasma cell neoplasm	plasmacytoma
EFO:0000096	EFO:0000200	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:0006738	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	563204	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	plasmacytoma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0006738	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	1144462	\N	\N	EFO	3	EFO	lymphoid neoplasm	plasmacytoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006738	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	2027081	\N	\N	EFO	4	EFO	cancer	plasmacytoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0006738	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	2027082	\N	\N	EFO	4	EFO	hematological system disease	plasmacytoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006738	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	3178731	\N	\N	EFO	5	EFO	neoplasm	plasmacytoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006738	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	3178732	\N	\N	EFO	5	EFO	disease	plasmacytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006738	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	4388374	\N	\N	EFO	6	EFO	disease	plasmacytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006738	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	5408874	\N	\N	EFO	7	EFO	disposition	plasmacytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006738	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	5996624	\N	\N	EFO	8	EFO	material property	plasmacytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006738	"A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001)" []	6550383	\N	\N	EFO	9	EFO	experimental factor	plasmacytoma
EFO:0006739	\N	\N	"human pancreatic adenocarcinoma cell line (Sigma catalog number 94060601)" []	EFO:0006739	"human pancreatic adenocarcinoma cell line (Sigma catalog number 94060601)" []	68013	\N	\N	EFO	0	EFO	PSN1	PSN1
EFO:0001639	EFO:0006739	\N	"" []	EFO:0006739	"human pancreatic adenocarcinoma cell line (Sigma catalog number 94060601)" []	210022	\N	\N	EFO	1	EFO	cancer cell line	PSN1
EFO:0001641	EFO:0006739	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006739	"human pancreatic adenocarcinoma cell line (Sigma catalog number 94060601)" []	210023	\N	\N	EFO	1	EFO	epithelial cell derived cell line	PSN1
EFO:0002888	EFO:0006739	\N	"" []	EFO:0006739	"human pancreatic adenocarcinoma cell line (Sigma catalog number 94060601)" []	210024	\N	\N	EFO	1	EFO	Homo sapiens cell line	PSN1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006739	"human pancreatic adenocarcinoma cell line (Sigma catalog number 94060601)" []	563205	\N	\N	EFO	2	EFO	cell line	PSN1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006739	"human pancreatic adenocarcinoma cell line (Sigma catalog number 94060601)" []	563206	\N	\N	EFO	2	EFO	cell line	PSN1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006739	"human pancreatic adenocarcinoma cell line (Sigma catalog number 94060601)" []	563207	\N	\N	EFO	2	EFO	cell line	PSN1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006739	"human pancreatic adenocarcinoma cell line (Sigma catalog number 94060601)" []	1144463	\N	\N	EFO	3	EFO	material entity	PSN1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006739	"human pancreatic adenocarcinoma cell line (Sigma catalog number 94060601)" []	2027083	\N	\N	EFO	4	EFO	experimental factor	PSN1
EFO:0006740	\N	\N	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	68014	\N	\N	EFO	0	EFO	pulmonary mucoepidermoid carcinoma	pulmonary mucoepidermoid carcinoma
EFO:0000707	EFO:0006740	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	210025	\N	\N	EFO	1	EFO	squamous cell carcinoma	pulmonary mucoepidermoid carcinoma
EFO:0001071	EFO:0006740	\N	"Tumors or cancer of the LUNG." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	210026	\N	\N	EFO	1	EFO	lung carcinoma	pulmonary mucoepidermoid carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	563208	\N	\N	EFO	2	EFO	carcinoma	pulmonary mucoepidermoid carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	563209	\N	\N	EFO	2	EFO	carcinoma	pulmonary mucoepidermoid carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	563210	\N	\N	EFO	2	EFO	lung disease	pulmonary mucoepidermoid carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	563211	\N	\N	EFO	2	EFO	respiratory system neoplasm	pulmonary mucoepidermoid carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	1144464	\N	\N	EFO	3	EFO	cancer	pulmonary mucoepidermoid carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	1144465	\N	\N	EFO	3	EFO	epithelial neoplasm	pulmonary mucoepidermoid carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	1144466	\N	\N	EFO	3	EFO	respiratory system disease	pulmonary mucoepidermoid carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	1144467	\N	\N	EFO	3	EFO	neoplasm	pulmonary mucoepidermoid carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	1144468	\N	\N	EFO	3	EFO	respiratory system disease	pulmonary mucoepidermoid carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	2027084	\N	\N	EFO	4	EFO	neoplasm	pulmonary mucoepidermoid carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	2027085	\N	\N	EFO	4	EFO	neoplasm	pulmonary mucoepidermoid carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	2027086	\N	\N	EFO	4	EFO	disease	pulmonary mucoepidermoid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	3178733	\N	\N	EFO	5	EFO	disease	pulmonary mucoepidermoid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	4132697	\N	\N	EFO	6	EFO	disposition	pulmonary mucoepidermoid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	5181019	\N	\N	EFO	7	EFO	material property	pulmonary mucoepidermoid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006740	"Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy." []	5996625	\N	\N	EFO	8	EFO	experimental factor	pulmonary mucoepidermoid carcinoma
EFO:0006741	\N	\N	"human pancreatic carcinoma cell line of islet cell origin" []	EFO:0006741	"human pancreatic carcinoma cell line of islet cell origin" []	68015	\N	\N	EFO	0	EFO	QGP-1	QGP-1
EFO:0001639	EFO:0006741	\N	"" []	EFO:0006741	"human pancreatic carcinoma cell line of islet cell origin" []	210027	\N	\N	EFO	1	EFO	cancer cell line	QGP-1
EFO:0002888	EFO:0006741	\N	"" []	EFO:0006741	"human pancreatic carcinoma cell line of islet cell origin" []	210028	\N	\N	EFO	1	EFO	Homo sapiens cell line	QGP-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006741	"human pancreatic carcinoma cell line of islet cell origin" []	563212	\N	\N	EFO	2	EFO	cell line	QGP-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006741	"human pancreatic carcinoma cell line of islet cell origin" []	563213	\N	\N	EFO	2	EFO	cell line	QGP-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006741	"human pancreatic carcinoma cell line of islet cell origin" []	1144469	\N	\N	EFO	3	EFO	material entity	QGP-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006741	"human pancreatic carcinoma cell line of islet cell origin" []	2027088	\N	\N	EFO	4	EFO	experimental factor	QGP-1
EFO:0006742	\N	\N	"human B-cell lymphoma cell line established from the peritoneal effusion of a patient with lymphoma, described at the time as true histiocytic lymphoma, in 1984 (DSMZ catalog number ACC 561)" []	EFO:0006742	"human B-cell lymphoma cell line established from the peritoneal effusion of a patient with lymphoma, described at the time as true histiocytic lymphoma, in 1984 (DSMZ catalog number ACC 561)" []	68016	\N	\N	EFO	0	EFO	RC-K8	RC-K8
EFO:0001639	EFO:0006742	\N	"" []	EFO:0006742	"human B-cell lymphoma cell line established from the peritoneal effusion of a patient with lymphoma, described at the time as true histiocytic lymphoma, in 1984 (DSMZ catalog number ACC 561)" []	210029	\N	\N	EFO	1	EFO	cancer cell line	RC-K8
EFO:0002888	EFO:0006742	\N	"" []	EFO:0006742	"human B-cell lymphoma cell line established from the peritoneal effusion of a patient with lymphoma, described at the time as true histiocytic lymphoma, in 1984 (DSMZ catalog number ACC 561)" []	210030	\N	\N	EFO	1	EFO	Homo sapiens cell line	RC-K8
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006742	"human B-cell lymphoma cell line established from the peritoneal effusion of a patient with lymphoma, described at the time as true histiocytic lymphoma, in 1984 (DSMZ catalog number ACC 561)" []	563214	\N	\N	EFO	2	EFO	cell line	RC-K8
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006742	"human B-cell lymphoma cell line established from the peritoneal effusion of a patient with lymphoma, described at the time as true histiocytic lymphoma, in 1984 (DSMZ catalog number ACC 561)" []	563215	\N	\N	EFO	2	EFO	cell line	RC-K8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006742	"human B-cell lymphoma cell line established from the peritoneal effusion of a patient with lymphoma, described at the time as true histiocytic lymphoma, in 1984 (DSMZ catalog number ACC 561)" []	1144470	\N	\N	EFO	3	EFO	material entity	RC-K8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006742	"human B-cell lymphoma cell line established from the peritoneal effusion of a patient with lymphoma, described at the time as true histiocytic lymphoma, in 1984 (DSMZ catalog number ACC 561)" []	2027089	\N	\N	EFO	4	EFO	experimental factor	RC-K8
EFO:0006743	\N	\N	"human stomach carcinoma cell line from a 41 year old Japanese male" []	EFO:0006743	"human stomach carcinoma cell line from a 41 year old Japanese male" []	68017	\N	\N	EFO	0	EFO	RERF-GC-1B	RERF-GC-1B
EFO:0001639	EFO:0006743	\N	"" []	EFO:0006743	"human stomach carcinoma cell line from a 41 year old Japanese male" []	210031	\N	\N	EFO	1	EFO	cancer cell line	RERF-GC-1B
EFO:0002888	EFO:0006743	\N	"" []	EFO:0006743	"human stomach carcinoma cell line from a 41 year old Japanese male" []	210032	\N	\N	EFO	1	EFO	Homo sapiens cell line	RERF-GC-1B
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006743	"human stomach carcinoma cell line from a 41 year old Japanese male" []	563216	\N	\N	EFO	2	EFO	cell line	RERF-GC-1B
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006743	"human stomach carcinoma cell line from a 41 year old Japanese male" []	563217	\N	\N	EFO	2	EFO	cell line	RERF-GC-1B
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006743	"human stomach carcinoma cell line from a 41 year old Japanese male" []	1144471	\N	\N	EFO	3	EFO	material entity	RERF-GC-1B
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006743	"human stomach carcinoma cell line from a 41 year old Japanese male" []	2027090	\N	\N	EFO	4	EFO	experimental factor	RERF-GC-1B
EFO:0006744	\N	\N	"human lung adenocarcinoma cell line" []	EFO:0006744	"human lung adenocarcinoma cell line" []	68018	\N	\N	EFO	0	EFO	RERF-LC-OK	RERF-LC-OK
EFO:0002888	EFO:0006744	\N	"" []	EFO:0006744	"human lung adenocarcinoma cell line" []	210033	\N	\N	EFO	1	EFO	Homo sapiens cell line	RERF-LC-OK
EFO:0002934	EFO:0006744	\N	"" []	EFO:0006744	"human lung adenocarcinoma cell line" []	210034	\N	\N	EFO	1	EFO	lung cancer cell line	RERF-LC-OK
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006744	"human lung adenocarcinoma cell line" []	563218	\N	\N	EFO	2	EFO	cell line	RERF-LC-OK
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006744	"human lung adenocarcinoma cell line" []	563219	\N	\N	EFO	2	EFO	cancer cell line	RERF-LC-OK
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006744	"human lung adenocarcinoma cell line" []	2027092	\N	\N	EFO	4	EFO	material entity	RERF-LC-OK
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006744	"human lung adenocarcinoma cell line" []	1144473	\N	\N	EFO	3	EFO	cell line	RERF-LC-OK
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006744	"human lung adenocarcinoma cell line" []	2999795	\N	\N	EFO	5	EFO	experimental factor	RERF-LC-OK
EFO:0006745	\N	\N	"human ovarian leiomyosarcoma from a 45 year old Japanese female" []	EFO:0006745	"human ovarian leiomyosarcoma from a 45 year old Japanese female" []	68019	\N	\N	EFO	0	EFO	RKN	RKN
EFO:0001639	EFO:0006745	\N	"" []	EFO:0006745	"human ovarian leiomyosarcoma from a 45 year old Japanese female" []	210035	\N	\N	EFO	1	EFO	cancer cell line	RKN
EFO:0002888	EFO:0006745	\N	"" []	EFO:0006745	"human ovarian leiomyosarcoma from a 45 year old Japanese female" []	210036	\N	\N	EFO	1	EFO	Homo sapiens cell line	RKN
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006745	"human ovarian leiomyosarcoma from a 45 year old Japanese female" []	563220	\N	\N	EFO	2	EFO	cell line	RKN
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006745	"human ovarian leiomyosarcoma from a 45 year old Japanese female" []	563221	\N	\N	EFO	2	EFO	cell line	RKN
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006745	"human ovarian leiomyosarcoma from a 45 year old Japanese female" []	1144474	\N	\N	EFO	3	EFO	material entity	RKN
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006745	"human ovarian leiomyosarcoma from a 45 year old Japanese female" []	2027093	\N	\N	EFO	4	EFO	experimental factor	RKN
EFO:0006746	\N	\N	"human ovarian mesonephroid adenocarcinoma cell line from a 34 year old Japanese female" []	EFO:0006746	"human ovarian mesonephroid adenocarcinoma cell line from a 34 year old Japanese female" []	68020	\N	\N	EFO	0	EFO	RMG-I	RMG-I
EFO:0001639	EFO:0006746	\N	"" []	EFO:0006746	"human ovarian mesonephroid adenocarcinoma cell line from a 34 year old Japanese female" []	210037	\N	\N	EFO	1	EFO	cancer cell line	RMG-I
EFO:0002888	EFO:0006746	\N	"" []	EFO:0006746	"human ovarian mesonephroid adenocarcinoma cell line from a 34 year old Japanese female" []	210038	\N	\N	EFO	1	EFO	Homo sapiens cell line	RMG-I
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006746	"human ovarian mesonephroid adenocarcinoma cell line from a 34 year old Japanese female" []	563222	\N	\N	EFO	2	EFO	cell line	RMG-I
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006746	"human ovarian mesonephroid adenocarcinoma cell line from a 34 year old Japanese female" []	563223	\N	\N	EFO	2	EFO	cell line	RMG-I
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006746	"human ovarian mesonephroid adenocarcinoma cell line from a 34 year old Japanese female" []	1144475	\N	\N	EFO	3	EFO	material entity	RMG-I
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006746	"human ovarian mesonephroid adenocarcinoma cell line from a 34 year old Japanese female" []	2027094	\N	\N	EFO	4	EFO	experimental factor	RMG-I
EFO:0006747	\N	\N	"human ovarian adenocarcinoma cell line from a 62 year old Japanese female" []	EFO:0006747	"human ovarian adenocarcinoma cell line from a 62 year old Japanese female" []	68021	\N	\N	EFO	0	EFO	RMUG-S	RMUG-S
EFO:0002394	EFO:0006747	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006747	"human ovarian adenocarcinoma cell line from a 62 year old Japanese female" []	210039	\N	\N	EFO	1	EFO	ovarian cancer cell lines	RMUG-S
EFO:0002888	EFO:0006747	\N	"" []	EFO:0006747	"human ovarian adenocarcinoma cell line from a 62 year old Japanese female" []	210040	\N	\N	EFO	1	EFO	Homo sapiens cell line	RMUG-S
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006747	"human ovarian adenocarcinoma cell line from a 62 year old Japanese female" []	563224	\N	\N	EFO	2	EFO	cancer cell line	RMUG-S
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006747	"human ovarian adenocarcinoma cell line from a 62 year old Japanese female" []	563225	\N	\N	EFO	2	EFO	cell line	RMUG-S
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006747	"human ovarian adenocarcinoma cell line from a 62 year old Japanese female" []	1144476	\N	\N	EFO	3	EFO	cell line	RMUG-S
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006747	"human ovarian adenocarcinoma cell line from a 62 year old Japanese female" []	2027095	\N	\N	EFO	4	EFO	material entity	RMUG-S
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006747	"human ovarian adenocarcinoma cell line from a 62 year old Japanese female" []	2999796	\N	\N	EFO	5	EFO	experimental factor	RMUG-S
EFO:0006748	\N	\N	"spontaneously immortalised human epidermal keratinocytes" []	EFO:0006748	"spontaneously immortalised human epidermal keratinocytes" []	68022	\N	\N	EFO	0	EFO	RTS3b	RTS3b
EFO:0002888	EFO:0006748	\N	"" []	EFO:0006748	"spontaneously immortalised human epidermal keratinocytes" []	210041	\N	\N	EFO	1	EFO	Homo sapiens cell line	RTS3b
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006748	"spontaneously immortalised human epidermal keratinocytes" []	563226	\N	\N	EFO	2	EFO	cell line	RTS3b
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006748	"spontaneously immortalised human epidermal keratinocytes" []	1144478	\N	\N	EFO	3	EFO	material entity	RTS3b
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006748	"spontaneously immortalised human epidermal keratinocytes" []	2027097	\N	\N	EFO	4	EFO	experimental factor	RTS3b
EFO:0006749	\N	\N	"human small cell lung carcinoma cell line established from the pleural effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 372)" []	EFO:0006749	"human small cell lung carcinoma cell line established from the pleural effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 372)" []	68023	\N	\N	EFO	0	EFO	SCLC-21H	SCLC-21H
EFO:0002888	EFO:0006749	\N	"" []	EFO:0006749	"human small cell lung carcinoma cell line established from the pleural effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 372)" []	210042	\N	\N	EFO	1	EFO	Homo sapiens cell line	SCLC-21H
EFO:0002934	EFO:0006749	\N	"" []	EFO:0006749	"human small cell lung carcinoma cell line established from the pleural effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 372)" []	210043	\N	\N	EFO	1	EFO	lung cancer cell line	SCLC-21H
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006749	"human small cell lung carcinoma cell line established from the pleural effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 372)" []	563227	\N	\N	EFO	2	EFO	cell line	SCLC-21H
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006749	"human small cell lung carcinoma cell line established from the pleural effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 372)" []	563228	\N	\N	EFO	2	EFO	cancer cell line	SCLC-21H
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006749	"human small cell lung carcinoma cell line established from the pleural effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 372)" []	2027099	\N	\N	EFO	4	EFO	material entity	SCLC-21H
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006749	"human small cell lung carcinoma cell line established from the pleural effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 372)" []	1144480	\N	\N	EFO	3	EFO	cell line	SCLC-21H
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006749	"human small cell lung carcinoma cell line established from the pleural effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 372)" []	2999797	\N	\N	EFO	5	EFO	experimental factor	SCLC-21H
EFO:0006750	\N	\N	"human small cell lung carcinoma cell line established from the pericardial effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 373)" []	EFO:0006750	"human small cell lung carcinoma cell line established from the pericardial effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 373)" []	68024	\N	\N	EFO	0	EFO	SCLC-22H	SCLC-22H
EFO:0002888	EFO:0006750	\N	"" []	EFO:0006750	"human small cell lung carcinoma cell line established from the pericardial effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 373)" []	210044	\N	\N	EFO	1	EFO	Homo sapiens cell line	SCLC-22H
EFO:0002934	EFO:0006750	\N	"" []	EFO:0006750	"human small cell lung carcinoma cell line established from the pericardial effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 373)" []	210045	\N	\N	EFO	1	EFO	lung cancer cell line	SCLC-22H
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006750	"human small cell lung carcinoma cell line established from the pericardial effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 373)" []	563229	\N	\N	EFO	2	EFO	cell line	SCLC-22H
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006750	"human small cell lung carcinoma cell line established from the pericardial effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 373)" []	563230	\N	\N	EFO	2	EFO	cancer cell line	SCLC-22H
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006750	"human small cell lung carcinoma cell line established from the pericardial effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 373)" []	2027101	\N	\N	EFO	4	EFO	material entity	SCLC-22H
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006750	"human small cell lung carcinoma cell line established from the pericardial effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 373)" []	1144482	\N	\N	EFO	3	EFO	cell line	SCLC-22H
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006750	"human small cell lung carcinoma cell line established from the pericardial effusion of a 46-year-old Caucasian man with small cell lung carcinoma (DSMZ catalog number ACC 373)" []	2999798	\N	\N	EFO	5	EFO	experimental factor	SCLC-22H
EFO:0006751	\N	\N	"human acute myeloid leukemia cell line established in 1995 from the bone marrow of a 63-year-old man with acute myeloid leukemia of monocytic origin (DSMZ ACC 468)" []	EFO:0006751	"human acute myeloid leukemia cell line established in 1995 from the bone marrow of a 63-year-old man with acute myeloid leukemia of monocytic origin (DSMZ ACC 468)" []	68025	\N	\N	EFO	0	EFO	SIG-M5	SIG-M5
EFO:0002888	EFO:0006751	\N	"" []	EFO:0006751	"human acute myeloid leukemia cell line established in 1995 from the bone marrow of a 63-year-old man with acute myeloid leukemia of monocytic origin (DSMZ ACC 468)" []	210046	\N	\N	EFO	1	EFO	Homo sapiens cell line	SIG-M5
EFO:0002937	EFO:0006751	\N	"" []	EFO:0006751	"human acute myeloid leukemia cell line established in 1995 from the bone marrow of a 63-year-old man with acute myeloid leukemia of monocytic origin (DSMZ ACC 468)" []	210047	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	SIG-M5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006751	"human acute myeloid leukemia cell line established in 1995 from the bone marrow of a 63-year-old man with acute myeloid leukemia of monocytic origin (DSMZ ACC 468)" []	563231	\N	\N	EFO	2	EFO	cell line	SIG-M5
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006751	"human acute myeloid leukemia cell line established in 1995 from the bone marrow of a 63-year-old man with acute myeloid leukemia of monocytic origin (DSMZ ACC 468)" []	563232	\N	\N	EFO	2	EFO	cancer cell line	SIG-M5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006751	"human acute myeloid leukemia cell line established in 1995 from the bone marrow of a 63-year-old man with acute myeloid leukemia of monocytic origin (DSMZ ACC 468)" []	2027103	\N	\N	EFO	4	EFO	material entity	SIG-M5
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006751	"human acute myeloid leukemia cell line established in 1995 from the bone marrow of a 63-year-old man with acute myeloid leukemia of monocytic origin (DSMZ ACC 468)" []	1144484	\N	\N	EFO	3	EFO	cell line	SIG-M5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006751	"human acute myeloid leukemia cell line established in 1995 from the bone marrow of a 63-year-old man with acute myeloid leukemia of monocytic origin (DSMZ ACC 468)" []	2999799	\N	\N	EFO	5	EFO	experimental factor	SIG-M5
EFO:0006752	\N	\N	"human colorectal adenocarcinoma from a 65 year old Caucasian male (ATCC HTB-39)" []	EFO:0006752	"human colorectal adenocarcinoma from a 65 year old Caucasian male (ATCC HTB-39)" []	68026	\N	\N	EFO	0	EFO	SK-CO-1	SK-CO-1
BTO:0000797	\N	\N	"" []	EFO:0006752	"human colorectal adenocarcinoma from a 65 year old Caucasian male (ATCC HTB-39)" []	194804	\N	\N	EFO	0	EFO	colonic cancer cell line	SK-CO-1
BTO:0003250	\N	\N	"" []	EFO:0006752	"human colorectal adenocarcinoma from a 65 year old Caucasian male (ATCC HTB-39)" []	194805	\N	\N	EFO	0	EFO	colonic epithelium cell line	SK-CO-1
EFO:0001639	EFO:0006752	\N	"" []	EFO:0006752	"human colorectal adenocarcinoma from a 65 year old Caucasian male (ATCC HTB-39)" []	210048	\N	\N	EFO	1	EFO	cancer cell line	SK-CO-1
EFO:0002888	EFO:0006752	\N	"" []	EFO:0006752	"human colorectal adenocarcinoma from a 65 year old Caucasian male (ATCC HTB-39)" []	210049	\N	\N	EFO	1	EFO	Homo sapiens cell line	SK-CO-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006752	"human colorectal adenocarcinoma from a 65 year old Caucasian male (ATCC HTB-39)" []	563233	\N	\N	EFO	2	EFO	cell line	SK-CO-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006752	"human colorectal adenocarcinoma from a 65 year old Caucasian male (ATCC HTB-39)" []	563234	\N	\N	EFO	2	EFO	cell line	SK-CO-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006752	"human colorectal adenocarcinoma from a 65 year old Caucasian male (ATCC HTB-39)" []	1144485	\N	\N	EFO	3	EFO	material entity	SK-CO-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006752	"human colorectal adenocarcinoma from a 65 year old Caucasian male (ATCC HTB-39)" []	2027104	\N	\N	EFO	4	EFO	experimental factor	SK-CO-1
EFO:0006753	\N	\N	"human myelodysplasic cell line established from the peripheral blood of a 76-year-old Japanese man with acute monoblastic leukemia (AML M5) in 1989 following myelodysplastic syndromes (DSMZ catalog number ACC 547)" []	EFO:0006753	"human myelodysplasic cell line established from the peripheral blood of a 76-year-old Japanese man with acute monoblastic leukemia (AML M5) in 1989 following myelodysplastic syndromes (DSMZ catalog number ACC 547)" []	68027	\N	\N	EFO	0	EFO	SKM-1	SKM-1
EFO:0002888	EFO:0006753	\N	"" []	EFO:0006753	"human myelodysplasic cell line established from the peripheral blood of a 76-year-old Japanese man with acute monoblastic leukemia (AML M5) in 1989 following myelodysplastic syndromes (DSMZ catalog number ACC 547)" []	210050	\N	\N	EFO	1	EFO	Homo sapiens cell line	SKM-1
EFO:0002937	EFO:0006753	\N	"" []	EFO:0006753	"human myelodysplasic cell line established from the peripheral blood of a 76-year-old Japanese man with acute monoblastic leukemia (AML M5) in 1989 following myelodysplastic syndromes (DSMZ catalog number ACC 547)" []	210051	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	SKM-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006753	"human myelodysplasic cell line established from the peripheral blood of a 76-year-old Japanese man with acute monoblastic leukemia (AML M5) in 1989 following myelodysplastic syndromes (DSMZ catalog number ACC 547)" []	563235	\N	\N	EFO	2	EFO	cell line	SKM-1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0006753	"human myelodysplasic cell line established from the peripheral blood of a 76-year-old Japanese man with acute monoblastic leukemia (AML M5) in 1989 following myelodysplastic syndromes (DSMZ catalog number ACC 547)" []	563236	\N	\N	EFO	2	EFO	cancer cell line	SKM-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006753	"human myelodysplasic cell line established from the peripheral blood of a 76-year-old Japanese man with acute monoblastic leukemia (AML M5) in 1989 following myelodysplastic syndromes (DSMZ catalog number ACC 547)" []	2027106	\N	\N	EFO	4	EFO	material entity	SKM-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006753	"human myelodysplasic cell line established from the peripheral blood of a 76-year-old Japanese man with acute monoblastic leukemia (AML M5) in 1989 following myelodysplastic syndromes (DSMZ catalog number ACC 547)" []	1144487	\N	\N	EFO	3	EFO	cell line	SKM-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006753	"human myelodysplasic cell line established from the peripheral blood of a 76-year-old Japanese man with acute monoblastic leukemia (AML M5) in 1989 following myelodysplastic syndromes (DSMZ catalog number ACC 547)" []	2999800	\N	\N	EFO	5	EFO	experimental factor	SKM-1
EFO:0006754	\N	\N	"human stomach carcinoma cell line from a 46 year old female" []	EFO:0006754	"human stomach carcinoma cell line from a 46 year old female" []	68028	\N	\N	EFO	0	EFO	SNU-216	SNU-216
EFO:0001639	EFO:0006754	\N	"" []	EFO:0006754	"human stomach carcinoma cell line from a 46 year old female" []	210052	\N	\N	EFO	1	EFO	cancer cell line	SNU-216
EFO:0002888	EFO:0006754	\N	"" []	EFO:0006754	"human stomach carcinoma cell line from a 46 year old female" []	210053	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU-216
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006754	"human stomach carcinoma cell line from a 46 year old female" []	563237	\N	\N	EFO	2	EFO	cell line	SNU-216
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006754	"human stomach carcinoma cell line from a 46 year old female" []	563238	\N	\N	EFO	2	EFO	cell line	SNU-216
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006754	"human stomach carcinoma cell line from a 46 year old female" []	1144488	\N	\N	EFO	3	EFO	material entity	SNU-216
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006754	"human stomach carcinoma cell line from a 46 year old female" []	2027107	\N	\N	EFO	4	EFO	experimental factor	SNU-216
EFO:0006755	\N	\N	"human stomach carcinoma cell line from a 53 year old male" []	EFO:0006755	"human stomach carcinoma cell line from a 53 year old male" []	68029	\N	\N	EFO	0	EFO	SNU-484	SNU-484
EFO:0001639	EFO:0006755	\N	"" []	EFO:0006755	"human stomach carcinoma cell line from a 53 year old male" []	210054	\N	\N	EFO	1	EFO	cancer cell line	SNU-484
EFO:0002888	EFO:0006755	\N	"" []	EFO:0006755	"human stomach carcinoma cell line from a 53 year old male" []	210055	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU-484
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006755	"human stomach carcinoma cell line from a 53 year old male" []	563239	\N	\N	EFO	2	EFO	cell line	SNU-484
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006755	"human stomach carcinoma cell line from a 53 year old male" []	563240	\N	\N	EFO	2	EFO	cell line	SNU-484
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006755	"human stomach carcinoma cell line from a 53 year old male" []	1144489	\N	\N	EFO	3	EFO	material entity	SNU-484
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006755	"human stomach carcinoma cell line from a 53 year old male" []	2027108	\N	\N	EFO	4	EFO	experimental factor	SNU-484
EFO:0006756	\N	\N	"human stomach carcinoma cell line from a 34 year old male" []	EFO:0006756	"human stomach carcinoma cell line from a 34 year old male" []	68030	\N	\N	EFO	0	EFO	SNU-601	SNU-601
EFO:0001639	EFO:0006756	\N	"" []	EFO:0006756	"human stomach carcinoma cell line from a 34 year old male" []	210056	\N	\N	EFO	1	EFO	cancer cell line	SNU-601
EFO:0002888	EFO:0006756	\N	"" []	EFO:0006756	"human stomach carcinoma cell line from a 34 year old male" []	210057	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU-601
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006756	"human stomach carcinoma cell line from a 34 year old male" []	563241	\N	\N	EFO	2	EFO	cell line	SNU-601
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006756	"human stomach carcinoma cell line from a 34 year old male" []	563242	\N	\N	EFO	2	EFO	cell line	SNU-601
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006756	"human stomach carcinoma cell line from a 34 year old male" []	1144490	\N	\N	EFO	3	EFO	material entity	SNU-601
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006756	"human stomach carcinoma cell line from a 34 year old male" []	2027109	\N	\N	EFO	4	EFO	experimental factor	SNU-601
EFO:0006757	\N	\N	"human stomach carcinoma cell line from a 59 year old female" []	EFO:0006757	"human stomach carcinoma cell line from a 59 year old female" []	68031	\N	\N	EFO	0	EFO	SNU-620	SNU-620
EFO:0001639	EFO:0006757	\N	"" []	EFO:0006757	"human stomach carcinoma cell line from a 59 year old female" []	210058	\N	\N	EFO	1	EFO	cancer cell line	SNU-620
EFO:0002888	EFO:0006757	\N	"" []	EFO:0006757	"human stomach carcinoma cell line from a 59 year old female" []	210059	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU-620
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006757	"human stomach carcinoma cell line from a 59 year old female" []	563243	\N	\N	EFO	2	EFO	cell line	SNU-620
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006757	"human stomach carcinoma cell line from a 59 year old female" []	563244	\N	\N	EFO	2	EFO	cell line	SNU-620
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006757	"human stomach carcinoma cell line from a 59 year old female" []	1144491	\N	\N	EFO	3	EFO	material entity	SNU-620
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006757	"human stomach carcinoma cell line from a 59 year old female" []	2027110	\N	\N	EFO	4	EFO	experimental factor	SNU-620
EFO:0006758	\N	\N	"human stomach carcinoma cell line from a 48 year old male" []	EFO:0006758	"human stomach carcinoma cell line from a 48 year old male" []	68032	\N	\N	EFO	0	EFO	SNU-638	SNU-638
EFO:0001639	EFO:0006758	\N	"" []	EFO:0006758	"human stomach carcinoma cell line from a 48 year old male" []	210060	\N	\N	EFO	1	EFO	cancer cell line	SNU-638
EFO:0002888	EFO:0006758	\N	"" []	EFO:0006758	"human stomach carcinoma cell line from a 48 year old male" []	210061	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU-638
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006758	"human stomach carcinoma cell line from a 48 year old male" []	563245	\N	\N	EFO	2	EFO	cell line	SNU-638
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006758	"human stomach carcinoma cell line from a 48 year old male" []	563246	\N	\N	EFO	2	EFO	cell line	SNU-638
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006758	"human stomach carcinoma cell line from a 48 year old male" []	1144492	\N	\N	EFO	3	EFO	material entity	SNU-638
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006758	"human stomach carcinoma cell line from a 48 year old male" []	2027111	\N	\N	EFO	4	EFO	experimental factor	SNU-638
EFO:0006759	\N	\N	"human stomach carcinoma cell line from a 68 year old male" []	EFO:0006759	"human stomach carcinoma cell line from a 68 year old male" []	68033	\N	\N	EFO	0	EFO	SNU-668	SNU-668
EFO:0001639	EFO:0006759	\N	"" []	EFO:0006759	"human stomach carcinoma cell line from a 68 year old male" []	210062	\N	\N	EFO	1	EFO	cancer cell line	SNU-668
EFO:0002888	EFO:0006759	\N	"" []	EFO:0006759	"human stomach carcinoma cell line from a 68 year old male" []	210063	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU-668
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006759	"human stomach carcinoma cell line from a 68 year old male" []	563247	\N	\N	EFO	2	EFO	cell line	SNU-668
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006759	"human stomach carcinoma cell line from a 68 year old male" []	563248	\N	\N	EFO	2	EFO	cell line	SNU-668
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006759	"human stomach carcinoma cell line from a 68 year old male" []	1144493	\N	\N	EFO	3	EFO	material entity	SNU-668
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006759	"human stomach carcinoma cell line from a 68 year old male" []	2027112	\N	\N	EFO	4	EFO	experimental factor	SNU-668
EFO:0006760	\N	\N	"human stomach carcinoma cell line from a 53 year old male" []	EFO:0006760	"human stomach carcinoma cell line from a 53 year old male" []	68034	\N	\N	EFO	0	EFO	SNU-719	SNU-719
EFO:0001639	EFO:0006760	\N	"" []	EFO:0006760	"human stomach carcinoma cell line from a 53 year old male" []	210064	\N	\N	EFO	1	EFO	cancer cell line	SNU-719
EFO:0002888	EFO:0006760	\N	"" []	EFO:0006760	"human stomach carcinoma cell line from a 53 year old male" []	210065	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU-719
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006760	"human stomach carcinoma cell line from a 53 year old male" []	563249	\N	\N	EFO	2	EFO	cell line	SNU-719
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006760	"human stomach carcinoma cell line from a 53 year old male" []	563250	\N	\N	EFO	2	EFO	cell line	SNU-719
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006760	"human stomach carcinoma cell line from a 53 year old male" []	1144494	\N	\N	EFO	3	EFO	material entity	SNU-719
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006760	"human stomach carcinoma cell line from a 53 year old male" []	2027113	\N	\N	EFO	4	EFO	experimental factor	SNU-719
EFO:0006761	\N	\N	"human colon adenocarcinoma cell line from a 71 year old Asian male (ATCC CRL-5972)" []	EFO:0006761	"human colon adenocarcinoma cell line from a 71 year old Asian male (ATCC CRL-5972)" []	68035	\N	\N	EFO	0	EFO	SNU-C1	SNU-C1
BTO:0000797	\N	\N	"" []	EFO:0006761	"human colon adenocarcinoma cell line from a 71 year old Asian male (ATCC CRL-5972)" []	194806	\N	\N	EFO	0	EFO	colonic cancer cell line	SNU-C1
BTO:0003250	\N	\N	"" []	EFO:0006761	"human colon adenocarcinoma cell line from a 71 year old Asian male (ATCC CRL-5972)" []	194807	\N	\N	EFO	0	EFO	colonic epithelium cell line	SNU-C1
EFO:0001639	EFO:0006761	\N	"" []	EFO:0006761	"human colon adenocarcinoma cell line from a 71 year old Asian male (ATCC CRL-5972)" []	210066	\N	\N	EFO	1	EFO	cancer cell line	SNU-C1
EFO:0002888	EFO:0006761	\N	"" []	EFO:0006761	"human colon adenocarcinoma cell line from a 71 year old Asian male (ATCC CRL-5972)" []	210067	\N	\N	EFO	1	EFO	Homo sapiens cell line	SNU-C1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006761	"human colon adenocarcinoma cell line from a 71 year old Asian male (ATCC CRL-5972)" []	563251	\N	\N	EFO	2	EFO	cell line	SNU-C1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006761	"human colon adenocarcinoma cell line from a 71 year old Asian male (ATCC CRL-5972)" []	563252	\N	\N	EFO	2	EFO	cell line	SNU-C1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006761	"human colon adenocarcinoma cell line from a 71 year old Asian male (ATCC CRL-5972)" []	1144495	\N	\N	EFO	3	EFO	material entity	SNU-C1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006761	"human colon adenocarcinoma cell line from a 71 year old Asian male (ATCC CRL-5972)" []	2027114	\N	\N	EFO	4	EFO	experimental factor	SNU-C1
EFO:0006762	\N	\N	"human breast carcinoma cell line established from a female" []	EFO:0006762	"human breast carcinoma cell line established from a female" []	68036	\N	\N	EFO	0	EFO	SUM229PE	SUM229PE
EFO:0002885	EFO:0006762	\N	"" []	EFO:0006762	"human breast carcinoma cell line established from a female" []	210068	\N	\N	EFO	1	EFO	breast cancer cell line	SUM229PE
EFO:0002888	EFO:0006762	\N	"" []	EFO:0006762	"human breast carcinoma cell line established from a female" []	210069	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUM229PE
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006762	"human breast carcinoma cell line established from a female" []	563253	\N	\N	EFO	2	EFO	cancer cell line	SUM229PE
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006762	"human breast carcinoma cell line established from a female" []	563254	\N	\N	EFO	2	EFO	cell line	SUM229PE
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006762	"human breast carcinoma cell line established from a female" []	1144496	\N	\N	EFO	3	EFO	cell line	SUM229PE
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006762	"human breast carcinoma cell line established from a female" []	2027115	\N	\N	EFO	4	EFO	material entity	SUM229PE
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006762	"human breast carcinoma cell line established from a female" []	2999801	\N	\N	EFO	5	EFO	experimental factor	SUM229PE
EFO:0006763	\N	\N	"human acute lymphoblastic leukemia cell line from a 8 year old Caucasian boy (ATCC CRL-1929)" []	EFO:0006763	"human acute lymphoblastic leukemia cell line from a 8 year old Caucasian boy (ATCC CRL-1929)" []	68037	\N	\N	EFO	0	EFO	SUP-B15	SUP-B15
EFO:0001639	EFO:0006763	\N	"" []	EFO:0006763	"human acute lymphoblastic leukemia cell line from a 8 year old Caucasian boy (ATCC CRL-1929)" []	210070	\N	\N	EFO	1	EFO	cancer cell line	SUP-B15
EFO:0002888	EFO:0006763	\N	"" []	EFO:0006763	"human acute lymphoblastic leukemia cell line from a 8 year old Caucasian boy (ATCC CRL-1929)" []	210071	\N	\N	EFO	1	EFO	Homo sapiens cell line	SUP-B15
EFO:0005292	EFO:0006763	\N	"" []	EFO:0006763	"human acute lymphoblastic leukemia cell line from a 8 year old Caucasian boy (ATCC CRL-1929)" []	210072	\N	\N	EFO	1	EFO	lymphoblastoid cell line	SUP-B15
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006763	"human acute lymphoblastic leukemia cell line from a 8 year old Caucasian boy (ATCC CRL-1929)" []	563255	\N	\N	EFO	2	EFO	cell line	SUP-B15
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006763	"human acute lymphoblastic leukemia cell line from a 8 year old Caucasian boy (ATCC CRL-1929)" []	563256	\N	\N	EFO	2	EFO	cell line	SUP-B15
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006763	"human acute lymphoblastic leukemia cell line from a 8 year old Caucasian boy (ATCC CRL-1929)" []	563257	\N	\N	EFO	2	EFO	cell line	SUP-B15
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006763	"human acute lymphoblastic leukemia cell line from a 8 year old Caucasian boy (ATCC CRL-1929)" []	1144498	\N	\N	EFO	3	EFO	material entity	SUP-B15
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006763	"human acute lymphoblastic leukemia cell line from a 8 year old Caucasian boy (ATCC CRL-1929)" []	2027117	\N	\N	EFO	4	EFO	experimental factor	SUP-B15
EFO:0006764	\N	\N	"human pancreatic carcinoma cell line from a 68 year old Japanese female" []	EFO:0006764	"human pancreatic carcinoma cell line from a 68 year old Japanese female" []	68038	\N	\N	EFO	0	EFO	TCC-PAN2	TCC-PAN2
EFO:0001639	EFO:0006764	\N	"" []	EFO:0006764	"human pancreatic carcinoma cell line from a 68 year old Japanese female" []	210073	\N	\N	EFO	1	EFO	cancer cell line	TCC-PAN2
EFO:0002888	EFO:0006764	\N	"" []	EFO:0006764	"human pancreatic carcinoma cell line from a 68 year old Japanese female" []	210074	\N	\N	EFO	1	EFO	Homo sapiens cell line	TCC-PAN2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006764	"human pancreatic carcinoma cell line from a 68 year old Japanese female" []	563258	\N	\N	EFO	2	EFO	cell line	TCC-PAN2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006764	"human pancreatic carcinoma cell line from a 68 year old Japanese female" []	563259	\N	\N	EFO	2	EFO	cell line	TCC-PAN2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006764	"human pancreatic carcinoma cell line from a 68 year old Japanese female" []	1144499	\N	\N	EFO	3	EFO	material entity	TCC-PAN2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006764	"human pancreatic carcinoma cell line from a 68 year old Japanese female" []	2027118	\N	\N	EFO	4	EFO	experimental factor	TCC-PAN2
EFO:0006765	\N	\N	"human carcinoma cell line from kidney of a 46 year old male" []	EFO:0006765	"human carcinoma cell line from kidney of a 46 year old male" []	68039	\N	\N	EFO	0	EFO	TK-10	TK-10
EFO:0001639	EFO:0006765	\N	"" []	EFO:0006765	"human carcinoma cell line from kidney of a 46 year old male" []	210075	\N	\N	EFO	1	EFO	cancer cell line	TK-10
EFO:0001643	EFO:0006765	\N	"" []	EFO:0006765	"human carcinoma cell line from kidney of a 46 year old male" []	210076	\N	\N	EFO	1	EFO	kidney derived cell line	TK-10
EFO:0002888	EFO:0006765	\N	"" []	EFO:0006765	"human carcinoma cell line from kidney of a 46 year old male" []	210077	\N	\N	EFO	1	EFO	Homo sapiens cell line	TK-10
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006765	"human carcinoma cell line from kidney of a 46 year old male" []	563260	\N	\N	EFO	2	EFO	cell line	TK-10
EFO:0000322	EFO:0001643	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006765	"human carcinoma cell line from kidney of a 46 year old male" []	563261	\N	\N	EFO	2	EFO	cell line	TK-10
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006765	"human carcinoma cell line from kidney of a 46 year old male" []	563262	\N	\N	EFO	2	EFO	cell line	TK-10
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006765	"human carcinoma cell line from kidney of a 46 year old male" []	1144500	\N	\N	EFO	3	EFO	material entity	TK-10
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006765	"human carcinoma cell line from kidney of a 46 year old male" []	2027119	\N	\N	EFO	4	EFO	experimental factor	TK-10
EFO:0006766	\N	\N	"human ovarian carcinoma cell line" []	EFO:0006766	"human ovarian carcinoma cell line" []	68040	\N	\N	EFO	0	EFO	TYK-nu	TYK-nu
EFO:0002394	EFO:0006766	\N	"Cell lines derived from ovarian cancer tissue." []	EFO:0006766	"human ovarian carcinoma cell line" []	210078	\N	\N	EFO	1	EFO	ovarian cancer cell lines	TYK-nu
EFO:0002888	EFO:0006766	\N	"" []	EFO:0006766	"human ovarian carcinoma cell line" []	210079	\N	\N	EFO	1	EFO	Homo sapiens cell line	TYK-nu
EFO:0001639	EFO:0002394	\N	"" []	EFO:0006766	"human ovarian carcinoma cell line" []	563263	\N	\N	EFO	2	EFO	cancer cell line	TYK-nu
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006766	"human ovarian carcinoma cell line" []	563264	\N	\N	EFO	2	EFO	cell line	TYK-nu
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006766	"human ovarian carcinoma cell line" []	1144501	\N	\N	EFO	3	EFO	cell line	TYK-nu
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006766	"human ovarian carcinoma cell line" []	2027120	\N	\N	EFO	4	EFO	material entity	TYK-nu
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006766	"human ovarian carcinoma cell line" []	2999802	\N	\N	EFO	5	EFO	experimental factor	TYK-nu
EFO:0006767	\N	\N	"human undifferentiated carcinoma cell line" []	EFO:0006767	"human undifferentiated carcinoma cell line" []	68041	\N	\N	EFO	0	EFO	TYK-nu.CP-r	TYK-nu.CP-r
EFO:0001639	EFO:0006767	\N	"" []	EFO:0006767	"human undifferentiated carcinoma cell line" []	210080	\N	\N	EFO	1	EFO	cancer cell line	TYK-nu.CP-r
EFO:0001641	EFO:0006767	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006767	"human undifferentiated carcinoma cell line" []	210081	\N	\N	EFO	1	EFO	epithelial cell derived cell line	TYK-nu.CP-r
EFO:0002888	EFO:0006767	\N	"" []	EFO:0006767	"human undifferentiated carcinoma cell line" []	210082	\N	\N	EFO	1	EFO	Homo sapiens cell line	TYK-nu.CP-r
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006767	"human undifferentiated carcinoma cell line" []	563265	\N	\N	EFO	2	EFO	cell line	TYK-nu.CP-r
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006767	"human undifferentiated carcinoma cell line" []	563266	\N	\N	EFO	2	EFO	cell line	TYK-nu.CP-r
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006767	"human undifferentiated carcinoma cell line" []	563267	\N	\N	EFO	2	EFO	cell line	TYK-nu.CP-r
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006767	"human undifferentiated carcinoma cell line" []	1144503	\N	\N	EFO	3	EFO	material entity	TYK-nu.CP-r
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006767	"human undifferentiated carcinoma cell line" []	2027122	\N	\N	EFO	4	EFO	experimental factor	TYK-nu.CP-r
EFO:0006768	\N	\N	"human B-cell lymphoma cell line established from the involved tonsil of a 7-year-old boy with lymphoblastic lymphoma at diagnosis prior to therapy in 1972 (DSMZ catalog number ACC 4)" []	EFO:0006768	"human B-cell lymphoma cell line established from the involved tonsil of a 7-year-old boy with lymphoblastic lymphoma at diagnosis prior to therapy in 1972 (DSMZ catalog number ACC 4)" []	68042	\N	\N	EFO	0	EFO	U-698-M	U-698-M
EFO:0001639	EFO:0006768	\N	"" []	EFO:0006768	"human B-cell lymphoma cell line established from the involved tonsil of a 7-year-old boy with lymphoblastic lymphoma at diagnosis prior to therapy in 1972 (DSMZ catalog number ACC 4)" []	210083	\N	\N	EFO	1	EFO	cancer cell line	U-698-M
EFO:0002888	EFO:0006768	\N	"" []	EFO:0006768	"human B-cell lymphoma cell line established from the involved tonsil of a 7-year-old boy with lymphoblastic lymphoma at diagnosis prior to therapy in 1972 (DSMZ catalog number ACC 4)" []	210084	\N	\N	EFO	1	EFO	Homo sapiens cell line	U-698-M
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006768	"human B-cell lymphoma cell line established from the involved tonsil of a 7-year-old boy with lymphoblastic lymphoma at diagnosis prior to therapy in 1972 (DSMZ catalog number ACC 4)" []	563268	\N	\N	EFO	2	EFO	cell line	U-698-M
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006768	"human B-cell lymphoma cell line established from the involved tonsil of a 7-year-old boy with lymphoblastic lymphoma at diagnosis prior to therapy in 1972 (DSMZ catalog number ACC 4)" []	563269	\N	\N	EFO	2	EFO	cell line	U-698-M
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006768	"human B-cell lymphoma cell line established from the involved tonsil of a 7-year-old boy with lymphoblastic lymphoma at diagnosis prior to therapy in 1972 (DSMZ catalog number ACC 4)" []	1144504	\N	\N	EFO	3	EFO	material entity	U-698-M
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006768	"human B-cell lymphoma cell line established from the involved tonsil of a 7-year-old boy with lymphoblastic lymphoma at diagnosis prior to therapy in 1972 (DSMZ catalog number ACC 4)" []	2027123	\N	\N	EFO	4	EFO	experimental factor	U-698-M
EFO:0006769	\N	\N	"human skin melanoma cell line" []	EFO:0006769	"human skin melanoma cell line" []	68043	\N	\N	EFO	0	EFO	UCSD-242l	UCSD-242l
BTO:0000849	EFO:0006769	\N	"" []	EFO:0006769	"human skin melanoma cell line" []	210085	\N	\N	EFO	1	EFO	melanoma cell line	UCSD-242l
EFO:0002888	EFO:0006769	\N	"" []	EFO:0006769	"human skin melanoma cell line" []	210086	\N	\N	EFO	1	EFO	Homo sapiens cell line	UCSD-242l
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006769	"human skin melanoma cell line" []	563270	\N	\N	EFO	2	EFO	cancer cell line	UCSD-242l
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006769	"human skin melanoma cell line" []	563271	\N	\N	EFO	2	EFO	cell line	UCSD-242l
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006769	"human skin melanoma cell line" []	1144505	\N	\N	EFO	3	EFO	cell line	UCSD-242l
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006769	"human skin melanoma cell line" []	2027124	\N	\N	EFO	4	EFO	material entity	UCSD-242l
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006769	"human skin melanoma cell line" []	2999803	\N	\N	EFO	5	EFO	experimental factor	UCSD-242l
EFO:0006770	\N	\N	"human bladder transitional carcinoma cell line derived from a bladder cancer metastasis of a black male (Sigma catalog number 06080301)" []	EFO:0006770	"human bladder transitional carcinoma cell line derived from a bladder cancer metastasis of a black male (Sigma catalog number 06080301)" []	68044	\N	\N	EFO	0	EFO	UM-UC-1	UM-UC-1
EFO:0001639	EFO:0006770	\N	"" []	EFO:0006770	"human bladder transitional carcinoma cell line derived from a bladder cancer metastasis of a black male (Sigma catalog number 06080301)" []	210087	\N	\N	EFO	1	EFO	cancer cell line	UM-UC-1
EFO:0001641	EFO:0006770	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006770	"human bladder transitional carcinoma cell line derived from a bladder cancer metastasis of a black male (Sigma catalog number 06080301)" []	210088	\N	\N	EFO	1	EFO	epithelial cell derived cell line	UM-UC-1
EFO:0002888	EFO:0006770	\N	"" []	EFO:0006770	"human bladder transitional carcinoma cell line derived from a bladder cancer metastasis of a black male (Sigma catalog number 06080301)" []	210089	\N	\N	EFO	1	EFO	Homo sapiens cell line	UM-UC-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006770	"human bladder transitional carcinoma cell line derived from a bladder cancer metastasis of a black male (Sigma catalog number 06080301)" []	563272	\N	\N	EFO	2	EFO	cell line	UM-UC-1
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006770	"human bladder transitional carcinoma cell line derived from a bladder cancer metastasis of a black male (Sigma catalog number 06080301)" []	563273	\N	\N	EFO	2	EFO	cell line	UM-UC-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006770	"human bladder transitional carcinoma cell line derived from a bladder cancer metastasis of a black male (Sigma catalog number 06080301)" []	563274	\N	\N	EFO	2	EFO	cell line	UM-UC-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006770	"human bladder transitional carcinoma cell line derived from a bladder cancer metastasis of a black male (Sigma catalog number 06080301)" []	1144507	\N	\N	EFO	3	EFO	material entity	UM-UC-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006770	"human bladder transitional carcinoma cell line derived from a bladder cancer metastasis of a black male (Sigma catalog number 06080301)" []	2027126	\N	\N	EFO	4	EFO	experimental factor	UM-UC-1
EFO:0006771	\N	\N	"human bladder transitional carcinoma cell line from the urinary bladder of a male (ATCC CRL-1749)" []	EFO:0006771	"human bladder transitional carcinoma cell line from the urinary bladder of a male (ATCC CRL-1749)" []	68045	\N	\N	EFO	0	EFO	UM-UC-3	UM-UC-3
EFO:0001639	EFO:0006771	\N	"" []	EFO:0006771	"human bladder transitional carcinoma cell line from the urinary bladder of a male (ATCC CRL-1749)" []	210090	\N	\N	EFO	1	EFO	cancer cell line	UM-UC-3
EFO:0001641	EFO:0006771	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006771	"human bladder transitional carcinoma cell line from the urinary bladder of a male (ATCC CRL-1749)" []	210091	\N	\N	EFO	1	EFO	epithelial cell derived cell line	UM-UC-3
EFO:0002888	EFO:0006771	\N	"" []	EFO:0006771	"human bladder transitional carcinoma cell line from the urinary bladder of a male (ATCC CRL-1749)" []	210092	\N	\N	EFO	1	EFO	Homo sapiens cell line	UM-UC-3
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006771	"human bladder transitional carcinoma cell line from the urinary bladder of a male (ATCC CRL-1749)" []	563275	\N	\N	EFO	2	EFO	cell line	UM-UC-3
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006771	"human bladder transitional carcinoma cell line from the urinary bladder of a male (ATCC CRL-1749)" []	563276	\N	\N	EFO	2	EFO	cell line	UM-UC-3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006771	"human bladder transitional carcinoma cell line from the urinary bladder of a male (ATCC CRL-1749)" []	563277	\N	\N	EFO	2	EFO	cell line	UM-UC-3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006771	"human bladder transitional carcinoma cell line from the urinary bladder of a male (ATCC CRL-1749)" []	1144508	\N	\N	EFO	3	EFO	material entity	UM-UC-3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006771	"human bladder transitional carcinoma cell line from the urinary bladder of a male (ATCC CRL-1749)" []	2027127	\N	\N	EFO	4	EFO	experimental factor	UM-UC-3
EFO:0006772	\N	\N	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	EFO:0006772	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	68046	\N	\N	EFO	0	EFO	undifferentiated carcinoma	undifferentiated carcinoma
EFO:0000313	EFO:0006772	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006772	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	210093	\N	\N	EFO	1	EFO	carcinoma	undifferentiated carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006772	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	563278	\N	\N	EFO	2	EFO	cancer	undifferentiated carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006772	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	563279	\N	\N	EFO	2	EFO	epithelial neoplasm	undifferentiated carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006772	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	1144509	\N	\N	EFO	3	EFO	neoplasm	undifferentiated carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006772	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	1144510	\N	\N	EFO	3	EFO	neoplasm	undifferentiated carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006772	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	2027128	\N	\N	EFO	4	EFO	disease	undifferentiated carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006772	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	3178735	\N	\N	EFO	5	EFO	disposition	undifferentiated carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006772	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	4388377	\N	\N	EFO	6	EFO	material property	undifferentiated carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006772	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	5408877	\N	\N	EFO	7	EFO	experimental factor	undifferentiated carcinoma
EFO:0006773	\N	\N	"human lung adenocarcinoma cell line from a male" []	EFO:0006773	"human lung adenocarcinoma cell line from a male" []	68047	\N	\N	EFO	0	EFO	VMRC-LCD	VMRC-LCD
EFO:0002888	EFO:0006773	\N	"" []	EFO:0006773	"human lung adenocarcinoma cell line from a male" []	210094	\N	\N	EFO	1	EFO	Homo sapiens cell line	VMRC-LCD
EFO:0002934	EFO:0006773	\N	"" []	EFO:0006773	"human lung adenocarcinoma cell line from a male" []	210095	\N	\N	EFO	1	EFO	lung cancer cell line	VMRC-LCD
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006773	"human lung adenocarcinoma cell line from a male" []	563280	\N	\N	EFO	2	EFO	cell line	VMRC-LCD
EFO:0001639	EFO:0002934	\N	"" []	EFO:0006773	"human lung adenocarcinoma cell line from a male" []	563281	\N	\N	EFO	2	EFO	cancer cell line	VMRC-LCD
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006773	"human lung adenocarcinoma cell line from a male" []	2027130	\N	\N	EFO	4	EFO	material entity	VMRC-LCD
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006773	"human lung adenocarcinoma cell line from a male" []	1144512	\N	\N	EFO	3	EFO	cell line	VMRC-LCD
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006773	"human lung adenocarcinoma cell line from a male" []	2999804	\N	\N	EFO	5	EFO	experimental factor	VMRC-LCD
EFO:0006774	\N	\N	"human skin melanoma cell line from a 58 year old female (ATCC CRL-1676)" []	EFO:0006774	"human skin melanoma cell line from a 58 year old female (ATCC CRL-1676)" []	68048	\N	\N	EFO	0	EFO	WM-266-4	WM-266-4
BTO:0000849	EFO:0006774	\N	"" []	EFO:0006774	"human skin melanoma cell line from a 58 year old female (ATCC CRL-1676)" []	210096	\N	\N	EFO	1	EFO	melanoma cell line	WM-266-4
EFO:0001641	EFO:0006774	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006774	"human skin melanoma cell line from a 58 year old female (ATCC CRL-1676)" []	210097	\N	\N	EFO	1	EFO	epithelial cell derived cell line	WM-266-4
EFO:0002888	EFO:0006774	\N	"" []	EFO:0006774	"human skin melanoma cell line from a 58 year old female (ATCC CRL-1676)" []	210098	\N	\N	EFO	1	EFO	Homo sapiens cell line	WM-266-4
EFO:0001639	BTO:0000849	\N	"" []	EFO:0006774	"human skin melanoma cell line from a 58 year old female (ATCC CRL-1676)" []	563282	\N	\N	EFO	2	EFO	cancer cell line	WM-266-4
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006774	"human skin melanoma cell line from a 58 year old female (ATCC CRL-1676)" []	563283	\N	\N	EFO	2	EFO	cell line	WM-266-4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006774	"human skin melanoma cell line from a 58 year old female (ATCC CRL-1676)" []	563284	\N	\N	EFO	2	EFO	cell line	WM-266-4
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006774	"human skin melanoma cell line from a 58 year old female (ATCC CRL-1676)" []	1144513	\N	\N	EFO	3	EFO	cell line	WM-266-4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006774	"human skin melanoma cell line from a 58 year old female (ATCC CRL-1676)" []	2027131	\N	\N	EFO	4	EFO	material entity	WM-266-4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006774	"human skin melanoma cell line from a 58 year old female (ATCC CRL-1676)" []	2999805	\N	\N	EFO	5	EFO	experimental factor	WM-266-4
EFO:0006775	\N	\N	"human B-cell lymphoma cell line derived from the pleural effusion of a 41-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 575)" []	EFO:0006775	"human B-cell lymphoma cell line derived from the pleural effusion of a 41-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 575)" []	68049	\N	\N	EFO	0	EFO	WSU-DLCL2	WSU-DLCL2
EFO:0001639	EFO:0006775	\N	"" []	EFO:0006775	"human B-cell lymphoma cell line derived from the pleural effusion of a 41-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 575)" []	210099	\N	\N	EFO	1	EFO	cancer cell line	WSU-DLCL2
EFO:0002888	EFO:0006775	\N	"" []	EFO:0006775	"human B-cell lymphoma cell line derived from the pleural effusion of a 41-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 575)" []	210100	\N	\N	EFO	1	EFO	Homo sapiens cell line	WSU-DLCL2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006775	"human B-cell lymphoma cell line derived from the pleural effusion of a 41-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 575)" []	563285	\N	\N	EFO	2	EFO	cell line	WSU-DLCL2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006775	"human B-cell lymphoma cell line derived from the pleural effusion of a 41-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 575)" []	563286	\N	\N	EFO	2	EFO	cell line	WSU-DLCL2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006775	"human B-cell lymphoma cell line derived from the pleural effusion of a 41-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 575)" []	1144515	\N	\N	EFO	3	EFO	material entity	WSU-DLCL2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006775	"human B-cell lymphoma cell line derived from the pleural effusion of a 41-year-old Caucasian man with B-cell non-Hodgkin lymphoma (DSMZ catalog number ACC 575)" []	2027133	\N	\N	EFO	4	EFO	experimental factor	WSU-DLCL2
EFO:0006776	\N	\N	"human B-cell lymphoma cell line established from the peripheral blood of a 37-year-old white man with low-grade follicular small cleaved cell lymphoma (DSMZ catalog number ACC 612)" []	EFO:0006776	"human B-cell lymphoma cell line established from the peripheral blood of a 37-year-old white man with low-grade follicular small cleaved cell lymphoma (DSMZ catalog number ACC 612)" []	68050	\N	\N	EFO	0	EFO	WSU-FSCCL	WSU-FSCCL
EFO:0001639	EFO:0006776	\N	"" []	EFO:0006776	"human B-cell lymphoma cell line established from the peripheral blood of a 37-year-old white man with low-grade follicular small cleaved cell lymphoma (DSMZ catalog number ACC 612)" []	210101	\N	\N	EFO	1	EFO	cancer cell line	WSU-FSCCL
EFO:0002888	EFO:0006776	\N	"" []	EFO:0006776	"human B-cell lymphoma cell line established from the peripheral blood of a 37-year-old white man with low-grade follicular small cleaved cell lymphoma (DSMZ catalog number ACC 612)" []	210102	\N	\N	EFO	1	EFO	Homo sapiens cell line	WSU-FSCCL
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006776	"human B-cell lymphoma cell line established from the peripheral blood of a 37-year-old white man with low-grade follicular small cleaved cell lymphoma (DSMZ catalog number ACC 612)" []	563287	\N	\N	EFO	2	EFO	cell line	WSU-FSCCL
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006776	"human B-cell lymphoma cell line established from the peripheral blood of a 37-year-old white man with low-grade follicular small cleaved cell lymphoma (DSMZ catalog number ACC 612)" []	563288	\N	\N	EFO	2	EFO	cell line	WSU-FSCCL
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006776	"human B-cell lymphoma cell line established from the peripheral blood of a 37-year-old white man with low-grade follicular small cleaved cell lymphoma (DSMZ catalog number ACC 612)" []	1144516	\N	\N	EFO	3	EFO	material entity	WSU-FSCCL
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006776	"human B-cell lymphoma cell line established from the peripheral blood of a 37-year-old white man with low-grade follicular small cleaved cell lymphoma (DSMZ catalog number ACC 612)" []	2027134	\N	\N	EFO	4	EFO	experimental factor	WSU-FSCCL
EFO:0006777	\N	\N	"human B-cell lymphoma cell line established from the pleural effusion of a 46-year-old woman with nodular histiocytic lymphoma (refractory, progressive) in 1986 (DSMZ ACC 58)" []	EFO:0006777	"human B-cell lymphoma cell line established from the pleural effusion of a 46-year-old woman with nodular histiocytic lymphoma (refractory, progressive) in 1986 (DSMZ ACC 58)" []	68051	\N	\N	EFO	0	EFO	WSU-NHL	WSU-NHL
EFO:0001639	EFO:0006777	\N	"" []	EFO:0006777	"human B-cell lymphoma cell line established from the pleural effusion of a 46-year-old woman with nodular histiocytic lymphoma (refractory, progressive) in 1986 (DSMZ ACC 58)" []	210103	\N	\N	EFO	1	EFO	cancer cell line	WSU-NHL
EFO:0002888	EFO:0006777	\N	"" []	EFO:0006777	"human B-cell lymphoma cell line established from the pleural effusion of a 46-year-old woman with nodular histiocytic lymphoma (refractory, progressive) in 1986 (DSMZ ACC 58)" []	210104	\N	\N	EFO	1	EFO	Homo sapiens cell line	WSU-NHL
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006777	"human B-cell lymphoma cell line established from the pleural effusion of a 46-year-old woman with nodular histiocytic lymphoma (refractory, progressive) in 1986 (DSMZ ACC 58)" []	563289	\N	\N	EFO	2	EFO	cell line	WSU-NHL
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006777	"human B-cell lymphoma cell line established from the pleural effusion of a 46-year-old woman with nodular histiocytic lymphoma (refractory, progressive) in 1986 (DSMZ ACC 58)" []	563290	\N	\N	EFO	2	EFO	cell line	WSU-NHL
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006777	"human B-cell lymphoma cell line established from the pleural effusion of a 46-year-old woman with nodular histiocytic lymphoma (refractory, progressive) in 1986 (DSMZ ACC 58)" []	1144517	\N	\N	EFO	3	EFO	material entity	WSU-NHL
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006777	"human B-cell lymphoma cell line established from the pleural effusion of a 46-year-old woman with nodular histiocytic lymphoma (refractory, progressive) in 1986 (DSMZ ACC 58)" []	2027135	\N	\N	EFO	4	EFO	experimental factor	WSU-NHL
EFO:0006778	\N	\N	"human pancreatic carcinoma cell line from a 43 year old Japanese male" []	EFO:0006778	"human pancreatic carcinoma cell line from a 43 year old Japanese male" []	68052	\N	\N	EFO	0	EFO	YAPC	YAPC
EFO:0001639	EFO:0006778	\N	"" []	EFO:0006778	"human pancreatic carcinoma cell line from a 43 year old Japanese male" []	210105	\N	\N	EFO	1	EFO	cancer cell line	YAPC
EFO:0002888	EFO:0006778	\N	"" []	EFO:0006778	"human pancreatic carcinoma cell line from a 43 year old Japanese male" []	210106	\N	\N	EFO	1	EFO	Homo sapiens cell line	YAPC
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006778	"human pancreatic carcinoma cell line from a 43 year old Japanese male" []	563291	\N	\N	EFO	2	EFO	cell line	YAPC
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006778	"human pancreatic carcinoma cell line from a 43 year old Japanese male" []	563292	\N	\N	EFO	2	EFO	cell line	YAPC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006778	"human pancreatic carcinoma cell line from a 43 year old Japanese male" []	1144518	\N	\N	EFO	3	EFO	material entity	YAPC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006778	"human pancreatic carcinoma cell line from a 43 year old Japanese male" []	2027136	\N	\N	EFO	4	EFO	experimental factor	YAPC
EFO:0006779	\N	\N	"human breast carcinoma cell line from a 55 year old female" []	EFO:0006779	"human breast carcinoma cell line from a 55 year old female" []	68053	\N	\N	EFO	0	EFO	YMB-1	YMB-1
EFO:0002885	EFO:0006779	\N	"" []	EFO:0006779	"human breast carcinoma cell line from a 55 year old female" []	210107	\N	\N	EFO	1	EFO	breast cancer cell line	YMB-1
EFO:0002888	EFO:0006779	\N	"" []	EFO:0006779	"human breast carcinoma cell line from a 55 year old female" []	210108	\N	\N	EFO	1	EFO	Homo sapiens cell line	YMB-1
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006779	"human breast carcinoma cell line from a 55 year old female" []	563293	\N	\N	EFO	2	EFO	cancer cell line	YMB-1
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006779	"human breast carcinoma cell line from a 55 year old female" []	563294	\N	\N	EFO	2	EFO	cell line	YMB-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006779	"human breast carcinoma cell line from a 55 year old female" []	1144519	\N	\N	EFO	3	EFO	cell line	YMB-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006779	"human breast carcinoma cell line from a 55 year old female" []	2027137	\N	\N	EFO	4	EFO	material entity	YMB-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006779	"human breast carcinoma cell line from a 55 year old female" []	2999806	\N	\N	EFO	5	EFO	experimental factor	YMB-1
EFO:0006780	\N	\N	"human breast carcinoma cell line from a 55 year old female" []	EFO:0006780	"human breast carcinoma cell line from a 55 year old female" []	68054	\N	\N	EFO	0	EFO	YMB-1-E	YMB-1-E
EFO:0002885	EFO:0006780	\N	"" []	EFO:0006780	"human breast carcinoma cell line from a 55 year old female" []	210109	\N	\N	EFO	1	EFO	breast cancer cell line	YMB-1-E
EFO:0002888	EFO:0006780	\N	"" []	EFO:0006780	"human breast carcinoma cell line from a 55 year old female" []	210110	\N	\N	EFO	1	EFO	Homo sapiens cell line	YMB-1-E
EFO:0001639	EFO:0002885	\N	"" []	EFO:0006780	"human breast carcinoma cell line from a 55 year old female" []	563295	\N	\N	EFO	2	EFO	cancer cell line	YMB-1-E
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006780	"human breast carcinoma cell line from a 55 year old female" []	563296	\N	\N	EFO	2	EFO	cell line	YMB-1-E
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006780	"human breast carcinoma cell line from a 55 year old female" []	1144521	\N	\N	EFO	3	EFO	cell line	YMB-1-E
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006780	"human breast carcinoma cell line from a 55 year old female" []	2027139	\N	\N	EFO	4	EFO	material entity	YMB-1-E
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006780	"human breast carcinoma cell line from a 55 year old female" []	2999807	\N	\N	EFO	5	EFO	experimental factor	YMB-1-E
EFO:0006781	\N	\N	"the quantification of some coffee consumption or coffee consumption-related behaviour, usually self-reported via a questionnaire" []	EFO:0006781	"the quantification of some coffee consumption or coffee consumption-related behaviour, usually self-reported via a questionnaire" []	68055	\N	\N	EFO	0	EFO	coffee consumption measurement	coffee consumption measurement
EFO:0001444	EFO:0006781	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006781	"the quantification of some coffee consumption or coffee consumption-related behaviour, usually self-reported via a questionnaire" []	210111	\N	\N	EFO	1	EFO	measurement	coffee consumption measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006781	"the quantification of some coffee consumption or coffee consumption-related behaviour, usually self-reported via a questionnaire" []	563297	\N	\N	EFO	2	EFO	information entity	coffee consumption measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006781	"the quantification of some coffee consumption or coffee consumption-related behaviour, usually self-reported via a questionnaire" []	1144523	\N	\N	EFO	3	EFO	experimental factor	coffee consumption measurement
EFO:0006782	\N	\N	"the quantification of the number of cups of coffee that a subject consumes on average per day" []	EFO:0006782	"the quantification of the number of cups of coffee that a subject consumes on average per day" []	68056	\N	\N	EFO	0	EFO	cups of coffee per day measurement	cups of coffee per day measurement
EFO:0006781	EFO:0006782	\N	"the quantification of some coffee consumption or coffee consumption-related behaviour, usually self-reported via a questionnaire" []	EFO:0006782	"the quantification of the number of cups of coffee that a subject consumes on average per day" []	210112	\N	\N	EFO	1	EFO	coffee consumption measurement	cups of coffee per day measurement
EFO:0001444	EFO:0006781	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006782	"the quantification of the number of cups of coffee that a subject consumes on average per day" []	563298	\N	\N	EFO	2	EFO	measurement	cups of coffee per day measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006782	"the quantification of the number of cups of coffee that a subject consumes on average per day" []	1144524	\N	\N	EFO	3	EFO	information entity	cups of coffee per day measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006782	"the quantification of the number of cups of coffee that a subject consumes on average per day" []	2027141	\N	\N	EFO	4	EFO	experimental factor	cups of coffee per day measurement
EFO:0006783	\N	\N	"the quantification of psychosocial stress factors such as financial strain, marital problems, work-related difficulties or health problems, usually assessed through self-reporting via standardised questionnaires." []	EFO:0006783	"the quantification of psychosocial stress factors such as financial strain, marital problems, work-related difficulties or health problems, usually assessed through self-reporting via standardised questionnaires." []	68057	\N	\N	EFO	0	EFO	psychosocial stress measurement	psychosocial stress measurement
EFO:0001444	EFO:0006783	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006783	"the quantification of psychosocial stress factors such as financial strain, marital problems, work-related difficulties or health problems, usually assessed through self-reporting via standardised questionnaires." []	210113	\N	\N	EFO	1	EFO	measurement	psychosocial stress measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006783	"the quantification of psychosocial stress factors such as financial strain, marital problems, work-related difficulties or health problems, usually assessed through self-reporting via standardised questionnaires." []	563299	\N	\N	EFO	2	EFO	information entity	psychosocial stress measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006783	"the quantification of psychosocial stress factors such as financial strain, marital problems, work-related difficulties or health problems, usually assessed through self-reporting via standardised questionnaires." []	1144525	\N	\N	EFO	3	EFO	experimental factor	psychosocial stress measurement
EFO:0006784	\N	\N	"The distance from the sole to the crown of the head of a newborn right after birth" []	EFO:0006784	"The distance from the sole to the crown of the head of a newborn right after birth" []	68058	\N	\N	EFO	0	EFO	body height at birth	body height at birth
EFO:0004339	EFO:0006784	\N	"The distance from the sole to the crown of the head with body standing on a flat surface and fully extended." []	EFO:0006784	"The distance from the sole to the crown of the head of a newborn right after birth" []	210114	\N	\N	EFO	1	EFO	body height	body height at birth
EFO:0004324	EFO:0004339	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0006784	"The distance from the sole to the crown of the head of a newborn right after birth" []	563300	\N	\N	EFO	2	EFO	body weights and measures	body height at birth
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0006784	"The distance from the sole to the crown of the head of a newborn right after birth" []	1144526	\N	\N	EFO	3	EFO	anthropometric measurement	body height at birth
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006784	"The distance from the sole to the crown of the head of a newborn right after birth" []	2027142	\N	\N	EFO	4	EFO	measurement	body height at birth
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006784	"The distance from the sole to the crown of the head of a newborn right after birth" []	3178736	\N	\N	EFO	5	EFO	information entity	body height at birth
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006784	"The distance from the sole to the crown of the head of a newborn right after birth" []	4388378	\N	\N	EFO	6	EFO	experimental factor	body height at birth
EFO:0006785	\N	\N	"The distance from the sole to the crown of the head of an infant, which can be used as a proxy for skeletal growth in early life" []	EFO:0006785	"The distance from the sole to the crown of the head of an infant, which can be used as a proxy for skeletal growth in early life" []	68059	\N	\N	EFO	0	EFO	infant body height	infant body height
EFO:0004339	EFO:0006785	\N	"The distance from the sole to the crown of the head with body standing on a flat surface and fully extended." []	EFO:0006785	"The distance from the sole to the crown of the head of an infant, which can be used as a proxy for skeletal growth in early life" []	210115	\N	\N	EFO	1	EFO	body height	infant body height
EFO:0004324	EFO:0004339	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0006785	"The distance from the sole to the crown of the head of an infant, which can be used as a proxy for skeletal growth in early life" []	563301	\N	\N	EFO	2	EFO	body weights and measures	infant body height
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0006785	"The distance from the sole to the crown of the head of an infant, which can be used as a proxy for skeletal growth in early life" []	1144527	\N	\N	EFO	3	EFO	anthropometric measurement	infant body height
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006785	"The distance from the sole to the crown of the head of an infant, which can be used as a proxy for skeletal growth in early life" []	2027143	\N	\N	EFO	4	EFO	measurement	infant body height
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006785	"The distance from the sole to the crown of the head of an infant, which can be used as a proxy for skeletal growth in early life" []	3178737	\N	\N	EFO	5	EFO	information entity	infant body height
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006785	"The distance from the sole to the crown of the head of an infant, which can be used as a proxy for skeletal growth in early life" []	4388379	\N	\N	EFO	6	EFO	experimental factor	infant body height
EFO:0006786	\N	\N	"" []	EFO:0006786	"" []	68060	\N	\N	EFO	0	EFO	EKVX	EKVX
EFO:0001639	EFO:0006786	\N	"" []	EFO:0006786	"" []	210116	\N	\N	EFO	1	EFO	cancer cell line	EKVX
EFO:0002888	EFO:0006786	\N	"" []	EFO:0006786	"" []	210117	\N	\N	EFO	1	EFO	Homo sapiens cell line	EKVX
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006786	"" []	563302	\N	\N	EFO	2	EFO	cell line	EKVX
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006786	"" []	563303	\N	\N	EFO	2	EFO	cell line	EKVX
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006786	"" []	1144528	\N	\N	EFO	3	EFO	material entity	EKVX
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006786	"" []	2027144	\N	\N	EFO	4	EFO	experimental factor	EKVX
EFO:0006787	\N	\N	"human colon adenocarcinoma cell line" []	EFO:0006787	"human colon adenocarcinoma cell line" []	68061	\N	\N	EFO	0	EFO	HM7	HM7
EFO:0001639	EFO:0006787	\N	"" []	EFO:0006787	"human colon adenocarcinoma cell line" []	210118	\N	\N	EFO	1	EFO	cancer cell line	HM7
EFO:0002888	EFO:0006787	\N	"" []	EFO:0006787	"human colon adenocarcinoma cell line" []	210119	\N	\N	EFO	1	EFO	Homo sapiens cell line	HM7
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006787	"human colon adenocarcinoma cell line" []	563304	\N	\N	EFO	2	EFO	cell line	HM7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006787	"human colon adenocarcinoma cell line" []	563305	\N	\N	EFO	2	EFO	cell line	HM7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006787	"human colon adenocarcinoma cell line" []	1144529	\N	\N	EFO	3	EFO	material entity	HM7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006787	"human colon adenocarcinoma cell line" []	2027145	\N	\N	EFO	4	EFO	experimental factor	HM7
EFO:0006788	\N	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:0006788	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	68062	\N	\N	EFO	0	EFO	anxiety disorder	anxiety disorder
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0006788	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	210120	\N	\N	EFO	1	EFO	mental or behavioural disorder	anxiety disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0006788	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	563306	\N	\N	EFO	2	EFO	brain disease	anxiety disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0006788	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	1144530	\N	\N	EFO	3	EFO	nervous system disease	anxiety disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006788	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	2027146	\N	\N	EFO	4	EFO	disease	anxiety disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006788	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	3178738	\N	\N	EFO	5	EFO	disposition	anxiety disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006788	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	4388380	\N	\N	EFO	6	EFO	material property	anxiety disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006788	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	5408878	\N	\N	EFO	7	EFO	experimental factor	anxiety disorder
EFO:0006789	\N	\N	"A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." []	EFO:0006789	"A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." []	68063	\N	\N	EFO	0	EFO	typhoid fever	typhoid fever
EFO:0000771	EFO:0006789	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0006789	"A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." []	210121	\N	\N	EFO	1	EFO	bacterial disease	typhoid fever
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0006789	"A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." []	563307	\N	\N	EFO	2	EFO	infectious disease	typhoid fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006789	"A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." []	1144531	\N	\N	EFO	3	EFO	disease	typhoid fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006789	"A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." []	2027147	\N	\N	EFO	4	EFO	disposition	typhoid fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006789	"A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." []	3178739	\N	\N	EFO	5	EFO	material property	typhoid fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006789	"A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." []	4388381	\N	\N	EFO	6	EFO	experimental factor	typhoid fever
EFO:0006790	\N	\N	"A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain." []	EFO:0006790	"A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain." []	68064	\N	\N	EFO	0	EFO	cerebral amyloid angiopathy	cerebral amyloid angiopathy
EFO:0003763	EFO:0006790	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:0006790	"A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain." []	210122	\N	\N	EFO	1	EFO	cerebrovascular disorder	cerebral amyloid angiopathy
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0006790	"A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain." []	563308	\N	\N	EFO	2	EFO	vascular disease	cerebral amyloid angiopathy
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0006790	"A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain." []	1144532	\N	\N	EFO	3	EFO	cardiovascular disease	cerebral amyloid angiopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006790	"A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain." []	2027148	\N	\N	EFO	4	EFO	disease	cerebral amyloid angiopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006790	"A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain." []	3178740	\N	\N	EFO	5	EFO	disposition	cerebral amyloid angiopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006790	"A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain." []	4388382	\N	\N	EFO	6	EFO	material property	cerebral amyloid angiopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006790	"A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain." []	5408879	\N	\N	EFO	7	EFO	experimental factor	cerebral amyloid angiopathy
EFO:0006791	\N	\N	"damage to the blood vessels of the brain" []	EFO:0006791	"damage to the blood vessels of the brain" []	68065	\N	\N	EFO	0	EFO	vascular brain injury	vascular brain injury
EFO:0004264	EFO:0006791	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0006791	"damage to the blood vessels of the brain" []	210123	\N	\N	EFO	1	EFO	vascular disease	vascular brain injury
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0006791	"damage to the blood vessels of the brain" []	563309	\N	\N	EFO	2	EFO	cardiovascular disease	vascular brain injury
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006791	"damage to the blood vessels of the brain" []	1144533	\N	\N	EFO	3	EFO	disease	vascular brain injury
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006791	"damage to the blood vessels of the brain" []	2027149	\N	\N	EFO	4	EFO	disposition	vascular brain injury
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006791	"damage to the blood vessels of the brain" []	3178741	\N	\N	EFO	5	EFO	material property	vascular brain injury
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006791	"damage to the blood vessels of the brain" []	4388383	\N	\N	EFO	6	EFO	experimental factor	vascular brain injury
EFO:0006792	\N	\N	"A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." []	EFO:0006792	"A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." []	68066	\N	\N	EFO	0	EFO	Lewy body dementia	Lewy body dementia
HP:0000726	\N	\N	"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [HPO:probinson]	EFO:0006792	"A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." []	194808	\N	\N	EFO	0	EFO	Dementia	Lewy body dementia
EFO:0006793	\N	\N	"quantification of the volume of the left inferior lateral ventricle, usuallly through an MRI scan" []	EFO:0006793	"quantification of the volume of the left inferior lateral ventricle, usuallly through an MRI scan" []	68067	\N	\N	EFO	0	EFO	left inferior lateral ventricle volume measurement	left inferior lateral ventricle volume measurement
EFO:0006514	EFO:0006793	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0006793	"quantification of the volume of the left inferior lateral ventricle, usuallly through an MRI scan" []	210124	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	left inferior lateral ventricle volume measurement
EFO:0006930	EFO:0006793	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0006793	"quantification of the volume of the left inferior lateral ventricle, usuallly through an MRI scan" []	210125	\N	\N	EFO	1	EFO	brain volume measurement	left inferior lateral ventricle volume measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006793	"quantification of the volume of the left inferior lateral ventricle, usuallly through an MRI scan" []	563310	\N	\N	EFO	2	EFO	measurement	left inferior lateral ventricle volume measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0006793	"quantification of the volume of the left inferior lateral ventricle, usuallly through an MRI scan" []	563311	\N	\N	EFO	2	EFO	brain measurement	left inferior lateral ventricle volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006793	"quantification of the volume of the left inferior lateral ventricle, usuallly through an MRI scan" []	2027151	\N	\N	EFO	4	EFO	information entity	left inferior lateral ventricle volume measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006793	"quantification of the volume of the left inferior lateral ventricle, usuallly through an MRI scan" []	1144535	\N	\N	EFO	3	EFO	measurement	left inferior lateral ventricle volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006793	"quantification of the volume of the left inferior lateral ventricle, usuallly through an MRI scan" []	2999808	\N	\N	EFO	5	EFO	experimental factor	left inferior lateral ventricle volume measurement
EFO:0006794	\N	\N	"A cerebrospinal fluid biomarker measurement is a quantification in cerebrospinal fluid of some molecule e.g. protein or metabolite that acts as a biomarker for some disease, eg Alzheimer's disease" []	EFO:0006794	"A cerebrospinal fluid biomarker measurement is a quantification in cerebrospinal fluid of some molecule e.g. protein or metabolite that acts as a biomarker for some disease, eg Alzheimer's disease" []	68068	\N	\N	EFO	0	EFO	cerebrospinal fluid biomarker measurement	cerebrospinal fluid biomarker measurement
EFO:0001444	EFO:0006794	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006794	"A cerebrospinal fluid biomarker measurement is a quantification in cerebrospinal fluid of some molecule e.g. protein or metabolite that acts as a biomarker for some disease, eg Alzheimer's disease" []	210126	\N	\N	EFO	1	EFO	measurement	cerebrospinal fluid biomarker measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006794	"A cerebrospinal fluid biomarker measurement is a quantification in cerebrospinal fluid of some molecule e.g. protein or metabolite that acts as a biomarker for some disease, eg Alzheimer's disease" []	563312	\N	\N	EFO	2	EFO	information entity	cerebrospinal fluid biomarker measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006794	"A cerebrospinal fluid biomarker measurement is a quantification in cerebrospinal fluid of some molecule e.g. protein or metabolite that acts as a biomarker for some disease, eg Alzheimer's disease" []	1144536	\N	\N	EFO	3	EFO	experimental factor	cerebrospinal fluid biomarker measurement
EFO:0006795	\N	\N	"quantification in blood of the transmembrane receptor tyrosine kinase VEGFR2, expressed by endothelial cells. Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD. Isoform 2 plays an important role as negative regulator of VEGFA- and VEGFC-mediated lymphangiogenesis by limiting the amount of free VEGFA and/or VEGFC and preventing their binding to FLT4. Modulates FLT1 and FLT4 signaling by forming heterodimers. Binding of vascular growth factors to isoform 1 leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, reorganization of the actin cytoskeleton and activation of PTK2/FAK1. Required for VEGFA-mediated induction of NOS2 and NOS3, leading to the production of the signaling molecule nitric oxide (NO) by endothelial cells. Phosphorylates PLCG1. Promotes phosphorylation of FYN, NCK1, NOS3, PIK3R1, PTK2/FAK1 and SRC (Uniprot).  Variations in this gene are associated with Hemangioma, capillary infantile (OMIM label)." []	EFO:0006795	"quantification in blood of the transmembrane receptor tyrosine kinase VEGFR2, expressed by endothelial cells. Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD. Isoform 2 plays an important role as negative regulator of VEGFA- and VEGFC-mediated lymphangiogenesis by limiting the amount of free VEGFA and/or VEGFC and preventing their binding to FLT4. Modulates FLT1 and FLT4 signaling by forming heterodimers. Binding of vascular growth factors to isoform 1 leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, reorganization of the actin cytoskeleton and activation of PTK2/FAK1. Required for VEGFA-mediated induction of NOS2 and NOS3, leading to the production of the signaling molecule nitric oxide (NO) by endothelial cells. Phosphorylates PLCG1. Promotes phosphorylation of FYN, NCK1, NOS3, PIK3R1, PTK2/FAK1 and SRC (Uniprot).  Variations in this gene are associated with Hemangioma, capillary infantile (OMIM label)." []	68069	\N	\N	EFO	0	EFO	serum VEGFR2 concentration measurement	serum VEGFR2 concentration measurement
EFO:0001444	EFO:0006795	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006795	"quantification in blood of the transmembrane receptor tyrosine kinase VEGFR2, expressed by endothelial cells. Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD. Isoform 2 plays an important role as negative regulator of VEGFA- and VEGFC-mediated lymphangiogenesis by limiting the amount of free VEGFA and/or VEGFC and preventing their binding to FLT4. Modulates FLT1 and FLT4 signaling by forming heterodimers. Binding of vascular growth factors to isoform 1 leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, reorganization of the actin cytoskeleton and activation of PTK2/FAK1. Required for VEGFA-mediated induction of NOS2 and NOS3, leading to the production of the signaling molecule nitric oxide (NO) by endothelial cells. Phosphorylates PLCG1. Promotes phosphorylation of FYN, NCK1, NOS3, PIK3R1, PTK2/FAK1 and SRC (Uniprot).  Variations in this gene are associated with Hemangioma, capillary infantile (OMIM label)." []	210127	\N	\N	EFO	1	EFO	measurement	serum VEGFR2 concentration measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006795	"quantification in blood of the transmembrane receptor tyrosine kinase VEGFR2, expressed by endothelial cells. Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD. Isoform 2 plays an important role as negative regulator of VEGFA- and VEGFC-mediated lymphangiogenesis by limiting the amount of free VEGFA and/or VEGFC and preventing their binding to FLT4. Modulates FLT1 and FLT4 signaling by forming heterodimers. Binding of vascular growth factors to isoform 1 leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, reorganization of the actin cytoskeleton and activation of PTK2/FAK1. Required for VEGFA-mediated induction of NOS2 and NOS3, leading to the production of the signaling molecule nitric oxide (NO) by endothelial cells. Phosphorylates PLCG1. Promotes phosphorylation of FYN, NCK1, NOS3, PIK3R1, PTK2/FAK1 and SRC (Uniprot).  Variations in this gene are associated with Hemangioma, capillary infantile (OMIM label)." []	563313	\N	\N	EFO	2	EFO	information entity	serum VEGFR2 concentration measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006795	"quantification in blood of the transmembrane receptor tyrosine kinase VEGFR2, expressed by endothelial cells. Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD. Isoform 2 plays an important role as negative regulator of VEGFA- and VEGFC-mediated lymphangiogenesis by limiting the amount of free VEGFA and/or VEGFC and preventing their binding to FLT4. Modulates FLT1 and FLT4 signaling by forming heterodimers. Binding of vascular growth factors to isoform 1 leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, reorganization of the actin cytoskeleton and activation of PTK2/FAK1. Required for VEGFA-mediated induction of NOS2 and NOS3, leading to the production of the signaling molecule nitric oxide (NO) by endothelial cells. Phosphorylates PLCG1. Promotes phosphorylation of FYN, NCK1, NOS3, PIK3R1, PTK2/FAK1 and SRC (Uniprot).  Variations in this gene are associated with Hemangioma, capillary infantile (OMIM label)." []	1144537	\N	\N	EFO	3	EFO	experimental factor	serum VEGFR2 concentration measurement
EFO:0006796	\N	\N	"The determination of the amount of very long-chain saturated fatty acids present in a sample. VLSFAs are fatty acids with 20 or more carbons." []	EFO:0006796	"The determination of the amount of very long-chain saturated fatty acids present in a sample. VLSFAs are fatty acids with 20 or more carbons." []	68070	\N	\N	EFO	0	EFO	very long-chain saturated fatty acid measurement	very long-chain saturated fatty acid measurement
EFO:0005110	EFO:0006796	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0006796	"The determination of the amount of very long-chain saturated fatty acids present in a sample. VLSFAs are fatty acids with 20 or more carbons." []	210128	\N	\N	EFO	1	EFO	fatty acid measurement	very long-chain saturated fatty acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0006796	"The determination of the amount of very long-chain saturated fatty acids present in a sample. VLSFAs are fatty acids with 20 or more carbons." []	563314	\N	\N	EFO	2	EFO	lipid measurement	very long-chain saturated fatty acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006796	"The determination of the amount of very long-chain saturated fatty acids present in a sample. VLSFAs are fatty acids with 20 or more carbons." []	1144538	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	very long-chain saturated fatty acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006796	"The determination of the amount of very long-chain saturated fatty acids present in a sample. VLSFAs are fatty acids with 20 or more carbons." []	2027152	\N	\N	EFO	4	EFO	measurement	very long-chain saturated fatty acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006796	"The determination of the amount of very long-chain saturated fatty acids present in a sample. VLSFAs are fatty acids with 20 or more carbons." []	3178742	\N	\N	EFO	5	EFO	information entity	very long-chain saturated fatty acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006796	"The determination of the amount of very long-chain saturated fatty acids present in a sample. VLSFAs are fatty acids with 20 or more carbons." []	4388384	\N	\N	EFO	6	EFO	experimental factor	very long-chain saturated fatty acid measurement
EFO:0006797	\N	\N	"quantification of the presence and amount of neurofibrillary tangles, pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau" []	EFO:0006797	"quantification of the presence and amount of neurofibrillary tangles, pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau" []	68071	\N	\N	EFO	0	EFO	neurofibrilliary tangles measurement	neurofibrilliary tangles measurement
EFO:0004464	EFO:0006797	\N	"" []	EFO:0006797	"quantification of the presence and amount of neurofibrillary tangles, pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau" []	210129	\N	\N	EFO	1	EFO	brain measurement	neurofibrilliary tangles measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006797	"quantification of the presence and amount of neurofibrillary tangles, pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau" []	563315	\N	\N	EFO	2	EFO	measurement	neurofibrilliary tangles measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006797	"quantification of the presence and amount of neurofibrillary tangles, pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau" []	1144539	\N	\N	EFO	3	EFO	information entity	neurofibrilliary tangles measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006797	"quantification of the presence and amount of neurofibrillary tangles, pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau" []	2027153	\N	\N	EFO	4	EFO	experimental factor	neurofibrilliary tangles measurement
EFO:0006798	\N	\N	"quantification of  neuritic (senile) plaques in the brain, Senile plaques (also known as neuritic plaques, senile druse and braindruse) are extracellular deposits of amyloid beta in the grey matter of the brain.[1][2] Degenerative neural structures and an abundance of microglia and astrocytes can be associated with senile plaque deposits. These deposits can also be a byproduct of senescence (ageing). However, large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimer's disease. Abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles.[3] The plaques are variable in shape and size, but are on average 50 m in size.[4] In Alzheimer's disease they are primarily composed of amyloid beta peptides." []	EFO:0006798	"quantification of  neuritic (senile) plaques in the brain, Senile plaques (also known as neuritic plaques, senile druse and braindruse) are extracellular deposits of amyloid beta in the grey matter of the brain.[1][2] Degenerative neural structures and an abundance of microglia and astrocytes can be associated with senile plaque deposits. These deposits can also be a byproduct of senescence (ageing). However, large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimer's disease. Abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles.[3] The plaques are variable in shape and size, but are on average 50 m in size.[4] In Alzheimer's disease they are primarily composed of amyloid beta peptides." []	68072	\N	\N	EFO	0	EFO	neuritic plaque measurement	neuritic plaque measurement
EFO:0006514	EFO:0006798	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0006798	"quantification of  neuritic (senile) plaques in the brain, Senile plaques (also known as neuritic plaques, senile druse and braindruse) are extracellular deposits of amyloid beta in the grey matter of the brain.[1][2] Degenerative neural structures and an abundance of microglia and astrocytes can be associated with senile plaque deposits. These deposits can also be a byproduct of senescence (ageing). However, large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimer's disease. Abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles.[3] The plaques are variable in shape and size, but are on average 50 m in size.[4] In Alzheimer's disease they are primarily composed of amyloid beta peptides." []	210130	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	neuritic plaque measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006798	"quantification of  neuritic (senile) plaques in the brain, Senile plaques (also known as neuritic plaques, senile druse and braindruse) are extracellular deposits of amyloid beta in the grey matter of the brain.[1][2] Degenerative neural structures and an abundance of microglia and astrocytes can be associated with senile plaque deposits. These deposits can also be a byproduct of senescence (ageing). However, large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimer's disease. Abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles.[3] The plaques are variable in shape and size, but are on average 50 m in size.[4] In Alzheimer's disease they are primarily composed of amyloid beta peptides." []	563316	\N	\N	EFO	2	EFO	measurement	neuritic plaque measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006798	"quantification of  neuritic (senile) plaques in the brain, Senile plaques (also known as neuritic plaques, senile druse and braindruse) are extracellular deposits of amyloid beta in the grey matter of the brain.[1][2] Degenerative neural structures and an abundance of microglia and astrocytes can be associated with senile plaque deposits. These deposits can also be a byproduct of senescence (ageing). However, large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimer's disease. Abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles.[3] The plaques are variable in shape and size, but are on average 50 m in size.[4] In Alzheimer's disease they are primarily composed of amyloid beta peptides." []	1144540	\N	\N	EFO	3	EFO	information entity	neuritic plaque measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006798	"quantification of  neuritic (senile) plaques in the brain, Senile plaques (also known as neuritic plaques, senile druse and braindruse) are extracellular deposits of amyloid beta in the grey matter of the brain.[1][2] Degenerative neural structures and an abundance of microglia and astrocytes can be associated with senile plaque deposits. These deposits can also be a byproduct of senescence (ageing). However, large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimer's disease. Abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles.[3] The plaques are variable in shape and size, but are on average 50 m in size.[4] In Alzheimer's disease they are primarily composed of amyloid beta peptides." []	2027154	\N	\N	EFO	4	EFO	experimental factor	neuritic plaque measurement
EFO:0006799	\N	\N	"quantification of the amount and location of Lewy bodies in patients with symptoms of Lewy body dementia" []	EFO:0006799	"quantification of the amount and location of Lewy bodies in patients with symptoms of Lewy body dementia" []	68073	\N	\N	EFO	0	EFO	Lewy body dementia measurement	Lewy body dementia measurement
EFO:0007021	EFO:0006799	\N	"quantification of the amount and location of Lewy bodies in a brain biopsy sample" []	EFO:0006799	"quantification of the amount and location of Lewy bodies in patients with symptoms of Lewy body dementia" []	210131	\N	\N	EFO	1	EFO	Lewy body measurement	Lewy body dementia measurement
EFO:0004464	EFO:0007021	\N	"" []	EFO:0006799	"quantification of the amount and location of Lewy bodies in patients with symptoms of Lewy body dementia" []	563317	\N	\N	EFO	2	EFO	brain measurement	Lewy body dementia measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006799	"quantification of the amount and location of Lewy bodies in patients with symptoms of Lewy body dementia" []	1144541	\N	\N	EFO	3	EFO	measurement	Lewy body dementia measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006799	"quantification of the amount and location of Lewy bodies in patients with symptoms of Lewy body dementia" []	2027155	\N	\N	EFO	4	EFO	information entity	Lewy body dementia measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006799	"quantification of the amount and location of Lewy bodies in patients with symptoms of Lewy body dementia" []	3178743	\N	\N	EFO	5	EFO	experimental factor	Lewy body dementia measurement
EFO:0006800	\N	\N	"quantification of the location and the amount of injuries to the blood vessels of the brain" []	EFO:0006800	"quantification of the location and the amount of injuries to the blood vessels of the brain" []	68074	\N	\N	EFO	0	EFO	vascular brain injury measurement	vascular brain injury measurement
EFO:0005278	EFO:0006800	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006800	"quantification of the location and the amount of injuries to the blood vessels of the brain" []	210132	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	vascular brain injury measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006800	"quantification of the location and the amount of injuries to the blood vessels of the brain" []	563318	\N	\N	EFO	2	EFO	cardiovascular measurement	vascular brain injury measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006800	"quantification of the location and the amount of injuries to the blood vessels of the brain" []	1144542	\N	\N	EFO	3	EFO	measurement	vascular brain injury measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006800	"quantification of the location and the amount of injuries to the blood vessels of the brain" []	2027156	\N	\N	EFO	4	EFO	information entity	vascular brain injury measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006800	"quantification of the location and the amount of injuries to the blood vessels of the brain" []	3178744	\N	\N	EFO	5	EFO	experimental factor	vascular brain injury measurement
EFO:0006801	\N	\N	"degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" []	EFO:0006801	"degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" []	68075	\N	\N	EFO	0	EFO	Alzheimer's disease neuropathologic change	Alzheimer's disease neuropathologic change
EFO:0003765	EFO:0006801	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0006801	"degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" []	210133	\N	\N	EFO	1	EFO	sign or symptom	Alzheimer's disease neuropathologic change
EFO:0005774	EFO:0006801	\N	"A disease affecting the brain or part of the brain." []	EFO:0006801	"degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" []	210134	\N	\N	EFO	1	EFO	brain disease	Alzheimer's disease neuropathologic change
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006801	"degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" []	563319	\N	\N	EFO	2	EFO	phenotype	Alzheimer's disease neuropathologic change
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0006801	"degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" []	563320	\N	\N	EFO	2	EFO	nervous system disease	Alzheimer's disease neuropathologic change
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006801	"degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" []	1144543	\N	\N	EFO	3	EFO	quality	Alzheimer's disease neuropathologic change
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006801	"degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" []	1144544	\N	\N	EFO	3	EFO	disease	Alzheimer's disease neuropathologic change
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006801	"degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" []	2027157	\N	\N	EFO	4	EFO	material property	Alzheimer's disease neuropathologic change
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006801	"degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" []	2027158	\N	\N	EFO	4	EFO	disposition	Alzheimer's disease neuropathologic change
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006801	"degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" []	4388385	\N	\N	EFO	6	EFO	experimental factor	Alzheimer's disease neuropathologic change
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006801	"degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss" []	3178746	\N	\N	EFO	5	EFO	material property	Alzheimer's disease neuropathologic change
EFO:0006802	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a red blood cell transfusion" []	EFO:0006802	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a red blood cell transfusion" []	68076	\N	\N	EFO	0	EFO	response to red blood cell transfusion	response to red blood cell transfusion
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0006802	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a red blood cell transfusion" []	194809	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to red blood cell transfusion
EFO:0006803	\N	\N	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	EFO:0006803	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	68077	\N	\N	EFO	0	EFO	vasculitis	vasculitis
EFO:0004264	EFO:0006803	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0006803	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	210135	\N	\N	EFO	1	EFO	vascular disease	vasculitis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0006803	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	563321	\N	\N	EFO	2	EFO	cardiovascular disease	vasculitis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006803	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	1144545	\N	\N	EFO	3	EFO	disease	vasculitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006803	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	2027159	\N	\N	EFO	4	EFO	disposition	vasculitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006803	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	3178747	\N	\N	EFO	5	EFO	material property	vasculitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006803	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	4388386	\N	\N	EFO	6	EFO	experimental factor	vasculitis
EFO:0006804	\N	\N	"An immune response to foreign (donor) antigens." []	EFO:0006804	"An immune response to foreign (donor) antigens." []	68078	\N	\N	EFO	0	EFO	alloimmunization	alloimmunization
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0006804	"An immune response to foreign (donor) antigens." []	194810	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	alloimmunization
EFO:0006805	\N	\N	"Word list delayed recall is a verabl declarative memory test using visually or verbally presented word lists, with or without semantic relatedness between words, with articipants being asked to remember as many words as possible after a specified delay interval, The test is used to quanitfy memory performance." []	EFO:0006805	"Word list delayed recall is a verabl declarative memory test using visually or verbally presented word lists, with or without semantic relatedness between words, with articipants being asked to remember as many words as possible after a specified delay interval, The test is used to quanitfy memory performance." []	68079	\N	\N	EFO	0	EFO	word list delayed recall measurement	word list delayed recall measurement
EFO:0001444	EFO:0006805	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006805	"Word list delayed recall is a verabl declarative memory test using visually or verbally presented word lists, with or without semantic relatedness between words, with articipants being asked to remember as many words as possible after a specified delay interval, The test is used to quanitfy memory performance." []	210136	\N	\N	EFO	1	EFO	measurement	word list delayed recall measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006805	"Word list delayed recall is a verabl declarative memory test using visually or verbally presented word lists, with or without semantic relatedness between words, with articipants being asked to remember as many words as possible after a specified delay interval, The test is used to quanitfy memory performance." []	563322	\N	\N	EFO	2	EFO	information entity	word list delayed recall measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006805	"Word list delayed recall is a verabl declarative memory test using visually or verbally presented word lists, with or without semantic relatedness between words, with articipants being asked to remember as many words as possible after a specified delay interval, The test is used to quanitfy memory performance." []	1144546	\N	\N	EFO	3	EFO	experimental factor	word list delayed recall measurement
EFO:0006806	\N	\N	"Paragraph delayed recall is a verabl declarative memory test using one or two verbally presented stories, with articipants being asked to remember as many paragraph elements as possible after a specified delay interval, The test is used to quanitfy memory performance." []	EFO:0006806	"Paragraph delayed recall is a verabl declarative memory test using one or two verbally presented stories, with articipants being asked to remember as many paragraph elements as possible after a specified delay interval, The test is used to quanitfy memory performance." []	68080	\N	\N	EFO	0	EFO	paragraph delayed recall measurement	paragraph delayed recall measurement
EFO:0001444	EFO:0006806	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006806	"Paragraph delayed recall is a verabl declarative memory test using one or two verbally presented stories, with articipants being asked to remember as many paragraph elements as possible after a specified delay interval, The test is used to quanitfy memory performance." []	210137	\N	\N	EFO	1	EFO	measurement	paragraph delayed recall measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006806	"Paragraph delayed recall is a verabl declarative memory test using one or two verbally presented stories, with articipants being asked to remember as many paragraph elements as possible after a specified delay interval, The test is used to quanitfy memory performance." []	563323	\N	\N	EFO	2	EFO	information entity	paragraph delayed recall measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006806	"Paragraph delayed recall is a verabl declarative memory test using one or two verbally presented stories, with articipants being asked to remember as many paragraph elements as possible after a specified delay interval, The test is used to quanitfy memory performance." []	1144547	\N	\N	EFO	3	EFO	experimental factor	paragraph delayed recall measurement
EFO:0006807	\N	\N	"The determination of the amount of linoleic acid present in a sample." []	EFO:0006807	"The determination of the amount of linoleic acid present in a sample." []	68081	\N	\N	EFO	0	EFO	linoleic acid measurement	linoleic acid measurement
EFO:0005680	EFO:0006807	\N	"The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample." []	EFO:0006807	"The determination of the amount of linoleic acid present in a sample." []	210138	\N	\N	EFO	1	EFO	omega-6 polyunsaturated fatty acid measurement	linoleic acid measurement
EFO:0005110	EFO:0005680	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0006807	"The determination of the amount of linoleic acid present in a sample." []	563324	\N	\N	EFO	2	EFO	fatty acid measurement	linoleic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0006807	"The determination of the amount of linoleic acid present in a sample." []	1144548	\N	\N	EFO	3	EFO	lipid measurement	linoleic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006807	"The determination of the amount of linoleic acid present in a sample." []	2027160	\N	\N	EFO	4	EFO	lipid or lipoprotein measurement	linoleic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006807	"The determination of the amount of linoleic acid present in a sample." []	3178748	\N	\N	EFO	5	EFO	measurement	linoleic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006807	"The determination of the amount of linoleic acid present in a sample." []	4388387	\N	\N	EFO	6	EFO	information entity	linoleic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006807	"The determination of the amount of linoleic acid present in a sample." []	5408880	\N	\N	EFO	7	EFO	experimental factor	linoleic acid measurement
EFO:0006808	\N	\N	"The determination of the amount of arachidonic acid present in a sample." []	EFO:0006808	"The determination of the amount of arachidonic acid present in a sample." []	68082	\N	\N	EFO	0	EFO	arachidonic acid measurement	arachidonic acid measurement
EFO:0005680	EFO:0006808	\N	"The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample." []	EFO:0006808	"The determination of the amount of arachidonic acid present in a sample." []	210139	\N	\N	EFO	1	EFO	omega-6 polyunsaturated fatty acid measurement	arachidonic acid measurement
EFO:0005110	EFO:0005680	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0006808	"The determination of the amount of arachidonic acid present in a sample." []	563325	\N	\N	EFO	2	EFO	fatty acid measurement	arachidonic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0006808	"The determination of the amount of arachidonic acid present in a sample." []	1144549	\N	\N	EFO	3	EFO	lipid measurement	arachidonic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006808	"The determination of the amount of arachidonic acid present in a sample." []	2027161	\N	\N	EFO	4	EFO	lipid or lipoprotein measurement	arachidonic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006808	"The determination of the amount of arachidonic acid present in a sample." []	3178749	\N	\N	EFO	5	EFO	measurement	arachidonic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006808	"The determination of the amount of arachidonic acid present in a sample." []	4388388	\N	\N	EFO	6	EFO	information entity	arachidonic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006808	"The determination of the amount of arachidonic acid present in a sample." []	5408881	\N	\N	EFO	7	EFO	experimental factor	arachidonic acid measurement
EFO:0006809	\N	\N	"The determination of the amount of docosapentaenoic acid present in a sample." []	EFO:0006809	"The determination of the amount of docosapentaenoic acid present in a sample." []	68083	\N	\N	EFO	0	EFO	docosapentaenoic acid measurement	docosapentaenoic acid measurement
EFO:0005110	EFO:0006809	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0006809	"The determination of the amount of docosapentaenoic acid present in a sample." []	210140	\N	\N	EFO	1	EFO	fatty acid measurement	docosapentaenoic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0006809	"The determination of the amount of docosapentaenoic acid present in a sample." []	563326	\N	\N	EFO	2	EFO	lipid measurement	docosapentaenoic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006809	"The determination of the amount of docosapentaenoic acid present in a sample." []	1144550	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	docosapentaenoic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006809	"The determination of the amount of docosapentaenoic acid present in a sample." []	2027162	\N	\N	EFO	4	EFO	measurement	docosapentaenoic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006809	"The determination of the amount of docosapentaenoic acid present in a sample." []	3178750	\N	\N	EFO	5	EFO	information entity	docosapentaenoic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006809	"The determination of the amount of docosapentaenoic acid present in a sample." []	4388389	\N	\N	EFO	6	EFO	experimental factor	docosapentaenoic acid measurement
EFO:0006810	\N	\N	"The determination of the amount of oleic acid present in a sample." []	EFO:0006810	"The determination of the amount of oleic acid present in a sample." []	68084	\N	\N	EFO	0	EFO	oleic acid measurement	oleic acid measurement
EFO:0005110	EFO:0006810	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0006810	"The determination of the amount of oleic acid present in a sample." []	210141	\N	\N	EFO	1	EFO	fatty acid measurement	oleic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0006810	"The determination of the amount of oleic acid present in a sample." []	563327	\N	\N	EFO	2	EFO	lipid measurement	oleic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006810	"The determination of the amount of oleic acid present in a sample." []	1144551	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	oleic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006810	"The determination of the amount of oleic acid present in a sample." []	2027163	\N	\N	EFO	4	EFO	measurement	oleic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006810	"The determination of the amount of oleic acid present in a sample." []	3178751	\N	\N	EFO	5	EFO	information entity	oleic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006810	"The determination of the amount of oleic acid present in a sample." []	4388390	\N	\N	EFO	6	EFO	experimental factor	oleic acid measurement
EFO:0006811	\N	\N	"The determination of the amount of linolenic acid present in a sample." []	EFO:0006811	"The determination of the amount of linolenic acid present in a sample." []	68085	\N	\N	EFO	0	EFO	linolenic acid measurement	linolenic acid measurement
EFO:0005110	EFO:0006811	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0006811	"The determination of the amount of linolenic acid present in a sample." []	210142	\N	\N	EFO	1	EFO	fatty acid measurement	linolenic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0006811	"The determination of the amount of linolenic acid present in a sample." []	563328	\N	\N	EFO	2	EFO	lipid measurement	linolenic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006811	"The determination of the amount of linolenic acid present in a sample." []	1144552	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	linolenic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006811	"The determination of the amount of linolenic acid present in a sample." []	2027164	\N	\N	EFO	4	EFO	measurement	linolenic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006811	"The determination of the amount of linolenic acid present in a sample." []	3178752	\N	\N	EFO	5	EFO	information entity	linolenic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006811	"The determination of the amount of linolenic acid present in a sample." []	4388391	\N	\N	EFO	6	EFO	experimental factor	linolenic acid measurement
EFO:0006812	\N	\N	"a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroids cells, thereby destroying it.\\n\\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." []	EFO:0006812	"a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroids cells, thereby destroying it.\\n\\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." []	68086	\N	\N	EFO	0	EFO	autoimmune thyroid disease	autoimmune thyroid disease
EFO:0005140	EFO:0006812	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0006812	"a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroids cells, thereby destroying it.\\n\\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." []	210143	\N	\N	EFO	1	EFO	autoimmune disease	autoimmune thyroid disease
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0006812	"a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroids cells, thereby destroying it.\\n\\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." []	563329	\N	\N	EFO	2	EFO	immune system disease	autoimmune thyroid disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006812	"a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroids cells, thereby destroying it.\\n\\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." []	1144553	\N	\N	EFO	3	EFO	disease	autoimmune thyroid disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006812	"a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroids cells, thereby destroying it.\\n\\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." []	2027165	\N	\N	EFO	4	EFO	disposition	autoimmune thyroid disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006812	"a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroids cells, thereby destroying it.\\n\\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." []	3178753	\N	\N	EFO	5	EFO	material property	autoimmune thyroid disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006812	"a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroids cells, thereby destroying it.\\n\\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." []	4388392	\N	\N	EFO	6	EFO	experimental factor	autoimmune thyroid disease
EFO:0006813	\N	\N	"Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. Atrophic thyroiditis is a rare entity, which occurs between the ages of 4060 years especially in elderly women. Immunogenetical analysis suggests that atrophic thyroiditis may be a distinct entity from Hashimotos disease." []	EFO:0006813	"Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. Atrophic thyroiditis is a rare entity, which occurs between the ages of 4060 years especially in elderly women. Immunogenetical analysis suggests that atrophic thyroiditis may be a distinct entity from Hashimotos disease." []	68087	\N	\N	EFO	0	EFO	atrophic thyroiditis	atrophic thyroiditis
EFO:0006812	EFO:0006813	\N	"a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroids cells, thereby destroying it.\\n\\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." []	EFO:0006813	"Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. Atrophic thyroiditis is a rare entity, which occurs between the ages of 4060 years especially in elderly women. Immunogenetical analysis suggests that atrophic thyroiditis may be a distinct entity from Hashimotos disease." []	210144	\N	\N	EFO	1	EFO	autoimmune thyroid disease	atrophic thyroiditis
EFO:0005140	EFO:0006812	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0006813	"Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. Atrophic thyroiditis is a rare entity, which occurs between the ages of 4060 years especially in elderly women. Immunogenetical analysis suggests that atrophic thyroiditis may be a distinct entity from Hashimotos disease." []	563330	\N	\N	EFO	2	EFO	autoimmune disease	atrophic thyroiditis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0006813	"Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. Atrophic thyroiditis is a rare entity, which occurs between the ages of 4060 years especially in elderly women. Immunogenetical analysis suggests that atrophic thyroiditis may be a distinct entity from Hashimotos disease." []	1144554	\N	\N	EFO	3	EFO	immune system disease	atrophic thyroiditis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006813	"Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. Atrophic thyroiditis is a rare entity, which occurs between the ages of 4060 years especially in elderly women. Immunogenetical analysis suggests that atrophic thyroiditis may be a distinct entity from Hashimotos disease." []	2027166	\N	\N	EFO	4	EFO	disease	atrophic thyroiditis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006813	"Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. Atrophic thyroiditis is a rare entity, which occurs between the ages of 4060 years especially in elderly women. Immunogenetical analysis suggests that atrophic thyroiditis may be a distinct entity from Hashimotos disease." []	3178754	\N	\N	EFO	5	EFO	disposition	atrophic thyroiditis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006813	"Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. Atrophic thyroiditis is a rare entity, which occurs between the ages of 4060 years especially in elderly women. Immunogenetical analysis suggests that atrophic thyroiditis may be a distinct entity from Hashimotos disease." []	4388393	\N	\N	EFO	6	EFO	material property	atrophic thyroiditis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006813	"Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. Atrophic thyroiditis is a rare entity, which occurs between the ages of 4060 years especially in elderly women. Immunogenetical analysis suggests that atrophic thyroiditis may be a distinct entity from Hashimotos disease." []	5408882	\N	\N	EFO	7	EFO	experimental factor	atrophic thyroiditis
EFO:0006814	\N	\N	"Simple, dry, indehiscent fruit with a single seed that is fused to the ovary wall, example: wheat." []	EFO:0006814	"Simple, dry, indehiscent fruit with a single seed that is fused to the ovary wall, example: wheat." []	68088	\N	\N	EFO	0	EFO	caryopsis	caryopsis
EFO:0000998	EFO:0006814	\N	"" []	EFO:0006814	"Simple, dry, indehiscent fruit with a single seed that is fused to the ovary wall, example: wheat." []	210145	\N	\N	EFO	1	EFO	plant reproductive system structure	caryopsis
EFO:0000789	EFO:0000998	\N	"" []	EFO:0006814	"Simple, dry, indehiscent fruit with a single seed that is fused to the ovary wall, example: wheat." []	563331	\N	\N	EFO	2	EFO	plant component	caryopsis
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	EFO:0006814	"Simple, dry, indehiscent fruit with a single seed that is fused to the ovary wall, example: wheat." []	563332	\N	\N	EFO	2	EFO	plant anatomical entity	caryopsis
EFO:0000786	EFO:0000789	\N	"" []	EFO:0006814	"Simple, dry, indehiscent fruit with a single seed that is fused to the ovary wall, example: wheat." []	1144555	\N	\N	EFO	3	EFO	anatomy basic component	caryopsis
EFO:0000786	PO:0025131	\N	"" []	EFO:0006814	"Simple, dry, indehiscent fruit with a single seed that is fused to the ovary wall, example: wheat." []	1144556	\N	\N	EFO	3	EFO	anatomy basic component	caryopsis
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0006814	"Simple, dry, indehiscent fruit with a single seed that is fused to the ovary wall, example: wheat." []	2027167	\N	\N	EFO	4	EFO	organism part	caryopsis
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006814	"Simple, dry, indehiscent fruit with a single seed that is fused to the ovary wall, example: wheat." []	3178755	\N	\N	EFO	5	EFO	material entity	caryopsis
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006814	"Simple, dry, indehiscent fruit with a single seed that is fused to the ovary wall, example: wheat." []	4388394	\N	\N	EFO	6	EFO	experimental factor	caryopsis
EFO:0006815	\N	\N	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	EFO:0006815	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	68089	\N	\N	EFO	0	EFO	tiller	tiller
EFO:0000992	EFO:0006815	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	EFO:0006815	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	210146	\N	\N	EFO	1	EFO	shoot	tiller
PO:0009006	EFO:0006815	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	EFO:0006815	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	210147	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	tiller
EFO:0000789	EFO:0000992	\N	"" []	EFO:0006815	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	563333	\N	\N	EFO	2	EFO	plant component	tiller
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	EFO:0006815	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	563334	\N	\N	EFO	2	EFO	plant anatomical entity	tiller
EFO:0000789	PO:0009006	\N	"" []	EFO:0006815	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	563335	\N	\N	EFO	2	EFO	plant component	tiller
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	EFO:0006815	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	563336	\N	\N	EFO	2	EFO	plant anatomical entity	tiller
EFO:0000786	EFO:0000789	\N	"" []	EFO:0006815	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	1144557	\N	\N	EFO	3	EFO	anatomy basic component	tiller
EFO:0000786	PO:0025131	\N	"" []	EFO:0006815	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	1144558	\N	\N	EFO	3	EFO	anatomy basic component	tiller
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	EFO:0006815	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	2027168	\N	\N	EFO	4	EFO	organism part	tiller
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006815	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	3178756	\N	\N	EFO	5	EFO	material entity	tiller
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006815	"A tiller is a stem produced by grass plants, and refers to all shoots that grow after the initial parent shoot grows from a seed." []	4388395	\N	\N	EFO	6	EFO	experimental factor	tiller
EFO:0006816	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heparin stimulus." []	EFO:0006816	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heparin stimulus." []	68090	\N	\N	EFO	0	EFO	response to heparin	response to heparin
GO:0061476	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anticoagulant stimulus." [GOC:dph]	EFO:0006816	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heparin stimulus." []	194811	\N	\N	EFO	0	EFO	response to anticoagulant	response to heparin
EFO:0006817	\N	\N	"Yang deficiency is a concept from traditional Chinese medicine. Yang-deficiency constitution is characterized by yang-qi deficiency and asthenia cold manifestation, and is mainly caused by genetic and environment factors. In terms of genetic factors, offsprings are affected by this defect through inheritance from yang deficiency constitution parents and as a result of poor healthcare during pregnancy. Environmental factors include adverse social conditions, unhealthy lifestyle, diseases, and medical misdiagnosis and inappropriate treatments." []	EFO:0006817	"Yang deficiency is a concept from traditional Chinese medicine. Yang-deficiency constitution is characterized by yang-qi deficiency and asthenia cold manifestation, and is mainly caused by genetic and environment factors. In terms of genetic factors, offsprings are affected by this defect through inheritance from yang deficiency constitution parents and as a result of poor healthcare during pregnancy. Environmental factors include adverse social conditions, unhealthy lifestyle, diseases, and medical misdiagnosis and inappropriate treatments." []	68091	\N	\N	EFO	0	EFO	yang deficiency	yang deficiency
EFO:0003765	EFO:0006817	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0006817	"Yang deficiency is a concept from traditional Chinese medicine. Yang-deficiency constitution is characterized by yang-qi deficiency and asthenia cold manifestation, and is mainly caused by genetic and environment factors. In terms of genetic factors, offsprings are affected by this defect through inheritance from yang deficiency constitution parents and as a result of poor healthcare during pregnancy. Environmental factors include adverse social conditions, unhealthy lifestyle, diseases, and medical misdiagnosis and inappropriate treatments." []	210148	\N	\N	EFO	1	EFO	sign or symptom	yang deficiency
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006817	"Yang deficiency is a concept from traditional Chinese medicine. Yang-deficiency constitution is characterized by yang-qi deficiency and asthenia cold manifestation, and is mainly caused by genetic and environment factors. In terms of genetic factors, offsprings are affected by this defect through inheritance from yang deficiency constitution parents and as a result of poor healthcare during pregnancy. Environmental factors include adverse social conditions, unhealthy lifestyle, diseases, and medical misdiagnosis and inappropriate treatments." []	563337	\N	\N	EFO	2	EFO	phenotype	yang deficiency
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006817	"Yang deficiency is a concept from traditional Chinese medicine. Yang-deficiency constitution is characterized by yang-qi deficiency and asthenia cold manifestation, and is mainly caused by genetic and environment factors. In terms of genetic factors, offsprings are affected by this defect through inheritance from yang deficiency constitution parents and as a result of poor healthcare during pregnancy. Environmental factors include adverse social conditions, unhealthy lifestyle, diseases, and medical misdiagnosis and inappropriate treatments." []	1144559	\N	\N	EFO	3	EFO	quality	yang deficiency
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006817	"Yang deficiency is a concept from traditional Chinese medicine. Yang-deficiency constitution is characterized by yang-qi deficiency and asthenia cold manifestation, and is mainly caused by genetic and environment factors. In terms of genetic factors, offsprings are affected by this defect through inheritance from yang deficiency constitution parents and as a result of poor healthcare during pregnancy. Environmental factors include adverse social conditions, unhealthy lifestyle, diseases, and medical misdiagnosis and inappropriate treatments." []	2027169	\N	\N	EFO	4	EFO	material property	yang deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006817	"Yang deficiency is a concept from traditional Chinese medicine. Yang-deficiency constitution is characterized by yang-qi deficiency and asthenia cold manifestation, and is mainly caused by genetic and environment factors. In terms of genetic factors, offsprings are affected by this defect through inheritance from yang deficiency constitution parents and as a result of poor healthcare during pregnancy. Environmental factors include adverse social conditions, unhealthy lifestyle, diseases, and medical misdiagnosis and inappropriate treatments." []	3178757	\N	\N	EFO	5	EFO	experimental factor	yang deficiency
EFO:0006818	\N	\N	"abnormal narrowing in a blood vessel or other tubular organ or structure" []	EFO:0006818	"abnormal narrowing in a blood vessel or other tubular organ or structure" []	68092	\N	\N	EFO	0	EFO	stricture	stricture
EFO:0003765	EFO:0006818	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0006818	"abnormal narrowing in a blood vessel or other tubular organ or structure" []	210149	\N	\N	EFO	1	EFO	sign or symptom	stricture
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006818	"abnormal narrowing in a blood vessel or other tubular organ or structure" []	563338	\N	\N	EFO	2	EFO	phenotype	stricture
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006818	"abnormal narrowing in a blood vessel or other tubular organ or structure" []	1144560	\N	\N	EFO	3	EFO	quality	stricture
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006818	"abnormal narrowing in a blood vessel or other tubular organ or structure" []	2027170	\N	\N	EFO	4	EFO	material property	stricture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006818	"abnormal narrowing in a blood vessel or other tubular organ or structure" []	3178758	\N	\N	EFO	5	EFO	experimental factor	stricture
EFO:0006819	\N	\N	"progression of a disease with symptoms at the milder end of the spectrum for that condition" []	EFO:0006819	"progression of a disease with symptoms at the milder end of the spectrum for that condition" []	68093	\N	\N	EFO	0	EFO	mild disease course	mild disease course
OGMS:0000063	EFO:0006819	\N	"" []	EFO:0006819	"progression of a disease with symptoms at the milder end of the spectrum for that condition" []	210150	\N	\N	EFO	1	EFO	disease course	mild disease course
EFO:0006820	\N	\N	"progression of a disease with severe or complex symptoms within the spectrum of that condition" []	EFO:0006820	"progression of a disease with severe or complex symptoms within the spectrum of that condition" []	68094	\N	\N	EFO	0	EFO	complicated disease course	complicated disease course
OGMS:0000063	EFO:0006820	\N	"" []	EFO:0006820	"progression of a disease with severe or complex symptoms within the spectrum of that condition" []	210151	\N	\N	EFO	1	EFO	disease course	complicated disease course
EFO:0006821	\N	\N	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	EFO:0006821	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	68095	\N	\N	EFO	0	EFO	trans fatty acid measurement	trans fatty acid measurement
EFO:0005110	EFO:0006821	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0006821	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	210152	\N	\N	EFO	1	EFO	fatty acid measurement	trans fatty acid measurement
EFO:0005278	EFO:0006821	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006821	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	210153	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	trans fatty acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0006821	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	563339	\N	\N	EFO	2	EFO	lipid measurement	trans fatty acid measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006821	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	563340	\N	\N	EFO	2	EFO	cardiovascular measurement	trans fatty acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006821	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	1144561	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	trans fatty acid measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006821	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	1144562	\N	\N	EFO	3	EFO	measurement	trans fatty acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006821	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	2027171	\N	\N	EFO	4	EFO	measurement	trans fatty acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006821	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	3178759	\N	\N	EFO	5	EFO	information entity	trans fatty acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006821	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	4132698	\N	\N	EFO	6	EFO	experimental factor	trans fatty acid measurement
EFO:0006822	\N	\N	"The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." []	EFO:0006822	"The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." []	68096	\N	\N	EFO	0	EFO	trans-16:1n-7 fatty acid measurement	trans-16:1n-7 fatty acid measurement
EFO:0006821	EFO:0006822	\N	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	EFO:0006822	"The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." []	210154	\N	\N	EFO	1	EFO	trans fatty acid measurement	trans-16:1n-7 fatty acid measurement
EFO:0005110	EFO:0006821	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0006822	"The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." []	563341	\N	\N	EFO	2	EFO	fatty acid measurement	trans-16:1n-7 fatty acid measurement
EFO:0005278	EFO:0006821	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006822	"The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." []	563342	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	trans-16:1n-7 fatty acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0006822	"The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." []	1144563	\N	\N	EFO	3	EFO	lipid measurement	trans-16:1n-7 fatty acid measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006822	"The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." []	1144564	\N	\N	EFO	3	EFO	cardiovascular measurement	trans-16:1n-7 fatty acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006822	"The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." []	2027173	\N	\N	EFO	4	EFO	lipid or lipoprotein measurement	trans-16:1n-7 fatty acid measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006822	"The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." []	2027174	\N	\N	EFO	4	EFO	measurement	trans-16:1n-7 fatty acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006822	"The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." []	3178761	\N	\N	EFO	5	EFO	measurement	trans-16:1n-7 fatty acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006822	"The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." []	4388396	\N	\N	EFO	6	EFO	information entity	trans-16:1n-7 fatty acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006822	"The determination of the amount of trans fatty acids with 16 carbons and 1 double bond at the seventh N-terminal carbon present in a sample." []	5181020	\N	\N	EFO	7	EFO	experimental factor	trans-16:1n-7 fatty acid measurement
EFO:0006823	\N	\N	"The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." []	EFO:0006823	"The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." []	68097	\N	\N	EFO	0	EFO	total trans-18:1 fatty acid measurement	total trans-18:1 fatty acid measurement
EFO:0006821	EFO:0006823	\N	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	EFO:0006823	"The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." []	210155	\N	\N	EFO	1	EFO	trans fatty acid measurement	total trans-18:1 fatty acid measurement
EFO:0005110	EFO:0006821	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0006823	"The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." []	563343	\N	\N	EFO	2	EFO	fatty acid measurement	total trans-18:1 fatty acid measurement
EFO:0005278	EFO:0006821	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006823	"The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." []	563344	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	total trans-18:1 fatty acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0006823	"The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." []	1144565	\N	\N	EFO	3	EFO	lipid measurement	total trans-18:1 fatty acid measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006823	"The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." []	1144566	\N	\N	EFO	3	EFO	cardiovascular measurement	total trans-18:1 fatty acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006823	"The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." []	2027175	\N	\N	EFO	4	EFO	lipid or lipoprotein measurement	total trans-18:1 fatty acid measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006823	"The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." []	2027176	\N	\N	EFO	4	EFO	measurement	total trans-18:1 fatty acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006823	"The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." []	3178763	\N	\N	EFO	5	EFO	measurement	total trans-18:1 fatty acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006823	"The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." []	4388398	\N	\N	EFO	6	EFO	information entity	total trans-18:1 fatty acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006823	"The determination of the amount of trans fatty acids with 18 carbons and 1 double bond present in a sample." []	5181021	\N	\N	EFO	7	EFO	experimental factor	total trans-18:1 fatty acid measurement
EFO:0006824	\N	\N	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." []	EFO:0006824	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." []	68098	\N	\N	EFO	0	EFO	cis/trans-18:2 fatty acid measurement	cis/trans-18:2 fatty acid measurement
EFO:0006821	EFO:0006824	\N	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	EFO:0006824	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." []	210156	\N	\N	EFO	1	EFO	trans fatty acid measurement	cis/trans-18:2 fatty acid measurement
EFO:0005110	EFO:0006821	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0006824	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." []	563345	\N	\N	EFO	2	EFO	fatty acid measurement	cis/trans-18:2 fatty acid measurement
EFO:0005278	EFO:0006821	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006824	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." []	563346	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	cis/trans-18:2 fatty acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0006824	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." []	1144567	\N	\N	EFO	3	EFO	lipid measurement	cis/trans-18:2 fatty acid measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006824	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." []	1144568	\N	\N	EFO	3	EFO	cardiovascular measurement	cis/trans-18:2 fatty acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006824	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." []	2027177	\N	\N	EFO	4	EFO	lipid or lipoprotein measurement	cis/trans-18:2 fatty acid measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006824	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." []	2027178	\N	\N	EFO	4	EFO	measurement	cis/trans-18:2 fatty acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006824	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." []	3178765	\N	\N	EFO	5	EFO	measurement	cis/trans-18:2 fatty acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006824	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." []	4388400	\N	\N	EFO	6	EFO	information entity	cis/trans-18:2 fatty acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006824	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, with the first one in cis configuration and the 2nd one in trans configuration, present in a sample." []	5181022	\N	\N	EFO	7	EFO	experimental factor	cis/trans-18:2 fatty acid measurement
EFO:0006825	\N	\N	"The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." []	EFO:0006825	"The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." []	68099	\N	\N	EFO	0	EFO	trans/cis-18:2 fatty acid measurement	trans/cis-18:2 fatty acid measurement
EFO:0006821	EFO:0006825	\N	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	EFO:0006825	"The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." []	210157	\N	\N	EFO	1	EFO	trans fatty acid measurement	trans/cis-18:2 fatty acid measurement
EFO:0005110	EFO:0006821	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0006825	"The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." []	563347	\N	\N	EFO	2	EFO	fatty acid measurement	trans/cis-18:2 fatty acid measurement
EFO:0005278	EFO:0006821	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006825	"The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." []	563348	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	trans/cis-18:2 fatty acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0006825	"The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." []	1144569	\N	\N	EFO	3	EFO	lipid measurement	trans/cis-18:2 fatty acid measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006825	"The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." []	1144570	\N	\N	EFO	3	EFO	cardiovascular measurement	trans/cis-18:2 fatty acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006825	"The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." []	2027179	\N	\N	EFO	4	EFO	lipid or lipoprotein measurement	trans/cis-18:2 fatty acid measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006825	"The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." []	2027180	\N	\N	EFO	4	EFO	measurement	trans/cis-18:2 fatty acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006825	"The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." []	3178767	\N	\N	EFO	5	EFO	measurement	trans/cis-18:2 fatty acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006825	"The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." []	4388402	\N	\N	EFO	6	EFO	information entity	trans/cis-18:2 fatty acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006825	"The determination of the amount of fatty acids with 18 carbons and 2 double bonds, with the first one in trans configuration and the 2nd one in cis configuration, present in a sample." []	5181023	\N	\N	EFO	7	EFO	experimental factor	trans/cis-18:2 fatty acid measurement
EFO:0006826	\N	\N	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." []	EFO:0006826	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." []	68100	\N	\N	EFO	0	EFO	trans/trans-18:2 fatty acid measurement	trans/trans-18:2 fatty acid measurement
EFO:0006821	EFO:0006826	\N	"The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample." []	EFO:0006826	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." []	210158	\N	\N	EFO	1	EFO	trans fatty acid measurement	trans/trans-18:2 fatty acid measurement
EFO:0005110	EFO:0006821	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0006826	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." []	563349	\N	\N	EFO	2	EFO	fatty acid measurement	trans/trans-18:2 fatty acid measurement
EFO:0005278	EFO:0006821	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006826	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." []	563350	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	trans/trans-18:2 fatty acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0006826	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." []	1144571	\N	\N	EFO	3	EFO	lipid measurement	trans/trans-18:2 fatty acid measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006826	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." []	1144572	\N	\N	EFO	3	EFO	cardiovascular measurement	trans/trans-18:2 fatty acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0006826	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." []	2027181	\N	\N	EFO	4	EFO	lipid or lipoprotein measurement	trans/trans-18:2 fatty acid measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006826	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." []	2027182	\N	\N	EFO	4	EFO	measurement	trans/trans-18:2 fatty acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006826	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." []	3178769	\N	\N	EFO	5	EFO	measurement	trans/trans-18:2 fatty acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006826	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." []	4388404	\N	\N	EFO	6	EFO	information entity	trans/trans-18:2 fatty acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006826	"The determination of the amount of trans fatty acids with 18 carbons and 2 double bonds, both of which are in trans configuration, present in a sample." []	5181024	\N	\N	EFO	7	EFO	experimental factor	trans/trans-18:2 fatty acid measurement
EFO:0006827	\N	\N	"quantification of some part of the renin-angiotensin-aldosterone system (RAAS), a central pathway in cardiovascular and renal physiology, critical for regulation of blood pressure and fluid balance and influencing cardiovascular remodeling" []	EFO:0006827	"quantification of some part of the renin-angiotensin-aldosterone system (RAAS), a central pathway in cardiovascular and renal physiology, critical for regulation of blood pressure and fluid balance and influencing cardiovascular remodeling" []	68101	\N	\N	EFO	0	EFO	reninangiotensinaldosterone system measurement	reninangiotensinaldosterone system measurement
EFO:0005278	EFO:0006827	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006827	"quantification of some part of the renin-angiotensin-aldosterone system (RAAS), a central pathway in cardiovascular and renal physiology, critical for regulation of blood pressure and fluid balance and influencing cardiovascular remodeling" []	210159	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	reninangiotensinaldosterone system measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006827	"quantification of some part of the renin-angiotensin-aldosterone system (RAAS), a central pathway in cardiovascular and renal physiology, critical for regulation of blood pressure and fluid balance and influencing cardiovascular remodeling" []	563351	\N	\N	EFO	2	EFO	cardiovascular measurement	reninangiotensinaldosterone system measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006827	"quantification of some part of the renin-angiotensin-aldosterone system (RAAS), a central pathway in cardiovascular and renal physiology, critical for regulation of blood pressure and fluid balance and influencing cardiovascular remodeling" []	1144573	\N	\N	EFO	3	EFO	measurement	reninangiotensinaldosterone system measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006827	"quantification of some part of the renin-angiotensin-aldosterone system (RAAS), a central pathway in cardiovascular and renal physiology, critical for regulation of blood pressure and fluid balance and influencing cardiovascular remodeling" []	2027183	\N	\N	EFO	4	EFO	information entity	reninangiotensinaldosterone system measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006827	"quantification of some part of the renin-angiotensin-aldosterone system (RAAS), a central pathway in cardiovascular and renal physiology, critical for regulation of blood pressure and fluid balance and influencing cardiovascular remodeling" []	3178771	\N	\N	EFO	5	EFO	experimental factor	reninangiotensinaldosterone system measurement
EFO:0006828	\N	\N	"Quantification of the activity of the enzyme renin in the blood. Renin activates the renin-angiotensin system by cleaving angiotensinogen, produced by the liver, to yield angiotensin I, which is further converted into angiotensin II by ACE, the angiotensin-converting enzyme primarily within the capillaries of the lungs." []	EFO:0006828	"Quantification of the activity of the enzyme renin in the blood. Renin activates the renin-angiotensin system by cleaving angiotensinogen, produced by the liver, to yield angiotensin I, which is further converted into angiotensin II by ACE, the angiotensin-converting enzyme primarily within the capillaries of the lungs." []	68102	\N	\N	EFO	0	EFO	plasma renin activity measurement	plasma renin activity measurement
EFO:0006827	EFO:0006828	\N	"quantification of some part of the renin-angiotensin-aldosterone system (RAAS), a central pathway in cardiovascular and renal physiology, critical for regulation of blood pressure and fluid balance and influencing cardiovascular remodeling" []	EFO:0006828	"Quantification of the activity of the enzyme renin in the blood. Renin activates the renin-angiotensin system by cleaving angiotensinogen, produced by the liver, to yield angiotensin I, which is further converted into angiotensin II by ACE, the angiotensin-converting enzyme primarily within the capillaries of the lungs." []	210160	\N	\N	EFO	1	EFO	reninangiotensinaldosterone system measurement	plasma renin activity measurement
EFO:0005278	EFO:0006827	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006828	"Quantification of the activity of the enzyme renin in the blood. Renin activates the renin-angiotensin system by cleaving angiotensinogen, produced by the liver, to yield angiotensin I, which is further converted into angiotensin II by ACE, the angiotensin-converting enzyme primarily within the capillaries of the lungs." []	563352	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	plasma renin activity measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006828	"Quantification of the activity of the enzyme renin in the blood. Renin activates the renin-angiotensin system by cleaving angiotensinogen, produced by the liver, to yield angiotensin I, which is further converted into angiotensin II by ACE, the angiotensin-converting enzyme primarily within the capillaries of the lungs." []	1144574	\N	\N	EFO	3	EFO	cardiovascular measurement	plasma renin activity measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006828	"Quantification of the activity of the enzyme renin in the blood. Renin activates the renin-angiotensin system by cleaving angiotensinogen, produced by the liver, to yield angiotensin I, which is further converted into angiotensin II by ACE, the angiotensin-converting enzyme primarily within the capillaries of the lungs." []	2027184	\N	\N	EFO	4	EFO	measurement	plasma renin activity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006828	"Quantification of the activity of the enzyme renin in the blood. Renin activates the renin-angiotensin system by cleaving angiotensinogen, produced by the liver, to yield angiotensin I, which is further converted into angiotensin II by ACE, the angiotensin-converting enzyme primarily within the capillaries of the lungs." []	3178772	\N	\N	EFO	5	EFO	information entity	plasma renin activity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006828	"Quantification of the activity of the enzyme renin in the blood. Renin activates the renin-angiotensin system by cleaving angiotensinogen, produced by the liver, to yield angiotensin I, which is further converted into angiotensin II by ACE, the angiotensin-converting enzyme primarily within the capillaries of the lungs." []	4388406	\N	\N	EFO	6	EFO	experimental factor	plasma renin activity measurement
EFO:0006829	\N	\N	"A quantification of the variation in an individual's glomerular filtration rate (GFR) over a period of time used in assessment of kidney function and diagnosis of kidney disease." []	EFO:0006829	"A quantification of the variation in an individual's glomerular filtration rate (GFR) over a period of time used in assessment of kidney function and diagnosis of kidney disease." []	68103	\N	\N	EFO	0	EFO	GFR change measurement	GFR change measurement
EFO:0004742	EFO:0006829	\N	"Is a quantification of some renal system biomarker" []	EFO:0006829	"A quantification of the variation in an individual's glomerular filtration rate (GFR) over a period of time used in assessment of kidney function and diagnosis of kidney disease." []	210161	\N	\N	EFO	1	EFO	renal system measurement	GFR change measurement
EFO:0001444	EFO:0004742	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006829	"A quantification of the variation in an individual's glomerular filtration rate (GFR) over a period of time used in assessment of kidney function and diagnosis of kidney disease." []	563353	\N	\N	EFO	2	EFO	measurement	GFR change measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006829	"A quantification of the variation in an individual's glomerular filtration rate (GFR) over a period of time used in assessment of kidney function and diagnosis of kidney disease." []	1144575	\N	\N	EFO	3	EFO	information entity	GFR change measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006829	"A quantification of the variation in an individual's glomerular filtration rate (GFR) over a period of time used in assessment of kidney function and diagnosis of kidney disease." []	2027185	\N	\N	EFO	4	EFO	experimental factor	GFR change measurement
EFO:0006830	\N	\N	"quantification of the rate at which insulin is cleared from some part of the metabolism, eg from the blood" []	EFO:0006830	"quantification of the rate at which insulin is cleared from some part of the metabolism, eg from the blood" []	68104	\N	\N	EFO	0	EFO	insulin metabolic clearance rate measurement	insulin metabolic clearance rate measurement
EFO:0004467	EFO:0006830	\N	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	EFO:0006830	"quantification of the rate at which insulin is cleared from some part of the metabolism, eg from the blood" []	210162	\N	\N	EFO	1	EFO	insulin measurement	insulin metabolic clearance rate measurement
EFO:0004730	EFO:0004467	\N	"" []	EFO:0006830	"quantification of the rate at which insulin is cleared from some part of the metabolism, eg from the blood" []	563354	\N	\N	EFO	2	EFO	hormone measurement	insulin metabolic clearance rate measurement
EFO:0004747	EFO:0004467	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006830	"quantification of the rate at which insulin is cleared from some part of the metabolism, eg from the blood" []	563355	\N	\N	EFO	2	EFO	protein measurement	insulin metabolic clearance rate measurement
EFO:0006842	EFO:0004467	\N	"" []	EFO:0006830	"quantification of the rate at which insulin is cleared from some part of the metabolism, eg from the blood" []	563356	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	insulin metabolic clearance rate measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006830	"quantification of the rate at which insulin is cleared from some part of the metabolism, eg from the blood" []	1144576	\N	\N	EFO	3	EFO	measurement	insulin metabolic clearance rate measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006830	"quantification of the rate at which insulin is cleared from some part of the metabolism, eg from the blood" []	1144577	\N	\N	EFO	3	EFO	measurement	insulin metabolic clearance rate measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006830	"quantification of the rate at which insulin is cleared from some part of the metabolism, eg from the blood" []	1144578	\N	\N	EFO	3	EFO	measurement	insulin metabolic clearance rate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006830	"quantification of the rate at which insulin is cleared from some part of the metabolism, eg from the blood" []	2027186	\N	\N	EFO	4	EFO	information entity	insulin metabolic clearance rate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006830	"quantification of the rate at which insulin is cleared from some part of the metabolism, eg from the blood" []	3178773	\N	\N	EFO	5	EFO	experimental factor	insulin metabolic clearance rate measurement
EFO:0006831	\N	\N	"quantification of insulin release in response to a controlled glucose intake, generally  calculated as the increase in insulin concentrations at 28 min above the basal (fasting) insulin level after the bolus glucose injection at 01 min" []	EFO:0006831	"quantification of insulin release in response to a controlled glucose intake, generally  calculated as the increase in insulin concentrations at 28 min above the basal (fasting) insulin level after the bolus glucose injection at 01 min" []	68105	\N	\N	EFO	0	EFO	acute insulin response measurement	acute insulin response measurement
EFO:0004467	EFO:0006831	\N	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	EFO:0006831	"quantification of insulin release in response to a controlled glucose intake, generally  calculated as the increase in insulin concentrations at 28 min above the basal (fasting) insulin level after the bolus glucose injection at 01 min" []	210163	\N	\N	EFO	1	EFO	insulin measurement	acute insulin response measurement
EFO:0004730	EFO:0004467	\N	"" []	EFO:0006831	"quantification of insulin release in response to a controlled glucose intake, generally  calculated as the increase in insulin concentrations at 28 min above the basal (fasting) insulin level after the bolus glucose injection at 01 min" []	563357	\N	\N	EFO	2	EFO	hormone measurement	acute insulin response measurement
EFO:0004747	EFO:0004467	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006831	"quantification of insulin release in response to a controlled glucose intake, generally  calculated as the increase in insulin concentrations at 28 min above the basal (fasting) insulin level after the bolus glucose injection at 01 min" []	563358	\N	\N	EFO	2	EFO	protein measurement	acute insulin response measurement
EFO:0006842	EFO:0004467	\N	"" []	EFO:0006831	"quantification of insulin release in response to a controlled glucose intake, generally  calculated as the increase in insulin concentrations at 28 min above the basal (fasting) insulin level after the bolus glucose injection at 01 min" []	563359	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	acute insulin response measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006831	"quantification of insulin release in response to a controlled glucose intake, generally  calculated as the increase in insulin concentrations at 28 min above the basal (fasting) insulin level after the bolus glucose injection at 01 min" []	1144579	\N	\N	EFO	3	EFO	measurement	acute insulin response measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006831	"quantification of insulin release in response to a controlled glucose intake, generally  calculated as the increase in insulin concentrations at 28 min above the basal (fasting) insulin level after the bolus glucose injection at 01 min" []	1144580	\N	\N	EFO	3	EFO	measurement	acute insulin response measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006831	"quantification of insulin release in response to a controlled glucose intake, generally  calculated as the increase in insulin concentrations at 28 min above the basal (fasting) insulin level after the bolus glucose injection at 01 min" []	1144581	\N	\N	EFO	3	EFO	measurement	acute insulin response measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006831	"quantification of insulin release in response to a controlled glucose intake, generally  calculated as the increase in insulin concentrations at 28 min above the basal (fasting) insulin level after the bolus glucose injection at 01 min" []	2027187	\N	\N	EFO	4	EFO	information entity	acute insulin response measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006831	"quantification of insulin release in response to a controlled glucose intake, generally  calculated as the increase in insulin concentrations at 28 min above the basal (fasting) insulin level after the bolus glucose injection at 01 min" []	3178774	\N	\N	EFO	5	EFO	experimental factor	acute insulin response measurement
EFO:0006832	\N	\N	"quantification of the disposition index, the product of measures of insulin sensitivity and firstphase insulin secretion, shown to predict conversion to diabetes" []	EFO:0006832	"quantification of the disposition index, the product of measures of insulin sensitivity and firstphase insulin secretion, shown to predict conversion to diabetes" []	68106	\N	\N	EFO	0	EFO	disposition index measurement	disposition index measurement
EFO:0004467	EFO:0006832	\N	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	EFO:0006832	"quantification of the disposition index, the product of measures of insulin sensitivity and firstphase insulin secretion, shown to predict conversion to diabetes" []	210164	\N	\N	EFO	1	EFO	insulin measurement	disposition index measurement
EFO:0004730	EFO:0004467	\N	"" []	EFO:0006832	"quantification of the disposition index, the product of measures of insulin sensitivity and firstphase insulin secretion, shown to predict conversion to diabetes" []	563360	\N	\N	EFO	2	EFO	hormone measurement	disposition index measurement
EFO:0004747	EFO:0004467	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006832	"quantification of the disposition index, the product of measures of insulin sensitivity and firstphase insulin secretion, shown to predict conversion to diabetes" []	563361	\N	\N	EFO	2	EFO	protein measurement	disposition index measurement
EFO:0006842	EFO:0004467	\N	"" []	EFO:0006832	"quantification of the disposition index, the product of measures of insulin sensitivity and firstphase insulin secretion, shown to predict conversion to diabetes" []	563362	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	disposition index measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006832	"quantification of the disposition index, the product of measures of insulin sensitivity and firstphase insulin secretion, shown to predict conversion to diabetes" []	1144582	\N	\N	EFO	3	EFO	measurement	disposition index measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006832	"quantification of the disposition index, the product of measures of insulin sensitivity and firstphase insulin secretion, shown to predict conversion to diabetes" []	1144583	\N	\N	EFO	3	EFO	measurement	disposition index measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006832	"quantification of the disposition index, the product of measures of insulin sensitivity and firstphase insulin secretion, shown to predict conversion to diabetes" []	1144584	\N	\N	EFO	3	EFO	measurement	disposition index measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006832	"quantification of the disposition index, the product of measures of insulin sensitivity and firstphase insulin secretion, shown to predict conversion to diabetes" []	2027188	\N	\N	EFO	4	EFO	information entity	disposition index measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006832	"quantification of the disposition index, the product of measures of insulin sensitivity and firstphase insulin secretion, shown to predict conversion to diabetes" []	3178775	\N	\N	EFO	5	EFO	experimental factor	disposition index measurement
EFO:0006833	\N	\N	"quantification of glucose effectiveness, the capacity of glucose to enhance its own cellular uptake and to suppress endogenous glucose production" []	EFO:0006833	"quantification of glucose effectiveness, the capacity of glucose to enhance its own cellular uptake and to suppress endogenous glucose production" []	68107	\N	\N	EFO	0	EFO	glucose effectiveness measurement	glucose effectiveness measurement
EFO:0004468	EFO:0006833	\N	"Is any quantification of glucose." []	EFO:0006833	"quantification of glucose effectiveness, the capacity of glucose to enhance its own cellular uptake and to suppress endogenous glucose production" []	210165	\N	\N	EFO	1	EFO	glucose measurement	glucose effectiveness measurement
EFO:0006842	EFO:0004468	\N	"" []	EFO:0006833	"quantification of glucose effectiveness, the capacity of glucose to enhance its own cellular uptake and to suppress endogenous glucose production" []	563363	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	glucose effectiveness measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006833	"quantification of glucose effectiveness, the capacity of glucose to enhance its own cellular uptake and to suppress endogenous glucose production" []	1144585	\N	\N	EFO	3	EFO	measurement	glucose effectiveness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006833	"quantification of glucose effectiveness, the capacity of glucose to enhance its own cellular uptake and to suppress endogenous glucose production" []	2027189	\N	\N	EFO	4	EFO	information entity	glucose effectiveness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006833	"quantification of glucose effectiveness, the capacity of glucose to enhance its own cellular uptake and to suppress endogenous glucose production" []	3178776	\N	\N	EFO	5	EFO	experimental factor	glucose effectiveness measurement
EFO:0006834	\N	\N	"Shock caused by infection; frequently caused by gram negative bacteria, although some cases have been caused by other bacteria, viruses, fungi, and protozoa; characterized by fever, chills, tachycardia, tachypnea, and hypotension. Shock is a state of acute circulatory failure characterized by persistent arterial hypotension despite adequate fluid resuscitation or by tissue hypoperfusion unexplained by other causes. " []	EFO:0006834	"Shock caused by infection; frequently caused by gram negative bacteria, although some cases have been caused by other bacteria, viruses, fungi, and protozoa; characterized by fever, chills, tachycardia, tachypnea, and hypotension. Shock is a state of acute circulatory failure characterized by persistent arterial hypotension despite adequate fluid resuscitation or by tissue hypoperfusion unexplained by other causes. " []	68108	\N	\N	EFO	0	EFO	septic shock	septic shock
HP:0001626	\N	\N	"Any abnormality of the cardiovascular system." [HPO:probinson]	EFO:0006834	"Shock caused by infection; frequently caused by gram negative bacteria, although some cases have been caused by other bacteria, viruses, fungi, and protozoa; characterized by fever, chills, tachycardia, tachypnea, and hypotension. Shock is a state of acute circulatory failure characterized by persistent arterial hypotension despite adequate fluid resuscitation or by tissue hypoperfusion unexplained by other causes. " []	194812	\N	\N	EFO	0	EFO	Abnormality of the cardiovascular system	septic shock
EFO:0006835	\N	\N	"An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown." []	EFO:0006835	"An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown." []	68109	\N	\N	EFO	0	EFO	pyoderma gangrenosum	pyoderma gangrenosum
HP:0000951	\N	\N	"An abnormality of the skin." [HPO:probinson]	EFO:0006835	"An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown." []	194813	\N	hposlim_core	EFO	0	EFO	Abnormality of the skin	pyoderma gangrenosum
EFO:0006836	\N	\N	"decline in kidney function defined as a decline in glomerular filtration rate in one year of  > 3 ml/min per 1.73m2 " []	EFO:0006836	"decline in kidney function defined as a decline in glomerular filtration rate in one year of  > 3 ml/min per 1.73m2 " []	68110	\N	\N	EFO	0	EFO	rapid kidney function decline	rapid kidney function decline
EFO:0000651	EFO:0006836	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006836	"decline in kidney function defined as a decline in glomerular filtration rate in one year of  > 3 ml/min per 1.73m2 " []	210166	\N	\N	EFO	1	EFO	phenotype	rapid kidney function decline
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006836	"decline in kidney function defined as a decline in glomerular filtration rate in one year of  > 3 ml/min per 1.73m2 " []	563364	\N	\N	EFO	2	EFO	quality	rapid kidney function decline
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006836	"decline in kidney function defined as a decline in glomerular filtration rate in one year of  > 3 ml/min per 1.73m2 " []	1144586	\N	\N	EFO	3	EFO	material property	rapid kidney function decline
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006836	"decline in kidney function defined as a decline in glomerular filtration rate in one year of  > 3 ml/min per 1.73m2 " []	2027190	\N	\N	EFO	4	EFO	experimental factor	rapid kidney function decline
EFO:0006841	\N	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0006841	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	68111	\N	\N	EFO	0	EFO	respiratory disease biomarker	respiratory disease biomarker
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006841	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	210167	\N	\N	EFO	1	EFO	measurement	respiratory disease biomarker
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006841	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	563365	\N	\N	EFO	2	EFO	information entity	respiratory disease biomarker
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006841	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	1144587	\N	\N	EFO	3	EFO	experimental factor	respiratory disease biomarker
EFO:0006842	\N	\N	"" []	EFO:0006842	"" []	68112	\N	\N	EFO	0	EFO	diabetes mellitus biomarker	diabetes mellitus biomarker
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006842	"" []	210168	\N	\N	EFO	1	EFO	measurement	diabetes mellitus biomarker
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006842	"" []	563366	\N	\N	EFO	2	EFO	information entity	diabetes mellitus biomarker
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006842	"" []	1144588	\N	\N	EFO	3	EFO	experimental factor	diabetes mellitus biomarker
EFO:0006843	\N	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0006843	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	68113	\N	\N	EFO	0	EFO	infectious disease biomarker	infectious disease biomarker
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006843	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	210169	\N	\N	EFO	1	EFO	measurement	infectious disease biomarker
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006843	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	563367	\N	\N	EFO	2	EFO	information entity	infectious disease biomarker
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006843	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	1144589	\N	\N	EFO	3	EFO	experimental factor	infectious disease biomarker
EFO:0006845	\N	\N	"The quantification of biomarkers used in the diagnosis or management of liver disease" []	EFO:0006845	"The quantification of biomarkers used in the diagnosis or management of liver disease" []	68114	\N	\N	EFO	0	EFO	liver disease biomarker	liver disease biomarker
EFO:0001444	EFO:0006845	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006845	"The quantification of biomarkers used in the diagnosis or management of liver disease" []	210170	\N	\N	EFO	1	EFO	measurement	liver disease biomarker
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006845	"The quantification of biomarkers used in the diagnosis or management of liver disease" []	563368	\N	\N	EFO	2	EFO	information entity	liver disease biomarker
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006845	"The quantification of biomarkers used in the diagnosis or management of liver disease" []	1144590	\N	\N	EFO	3	EFO	experimental factor	liver disease biomarker
EFO:0006846	\N	\N	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	EFO:0006846	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	68115	\N	\N	EFO	0	EFO	autoimmune disease biomarker	autoimmune disease biomarker
EFO:0001444	EFO:0006846	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006846	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	210171	\N	\N	EFO	1	EFO	measurement	autoimmune disease biomarker
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006846	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	563369	\N	\N	EFO	2	EFO	information entity	autoimmune disease biomarker
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006846	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	1144591	\N	\N	EFO	3	EFO	experimental factor	autoimmune disease biomarker
EFO:0006848	\N	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0006848	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	68116	\N	\N	EFO	0	EFO	mental or behavioural disorder biomarker	mental or behavioural disorder biomarker
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006848	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	210172	\N	\N	EFO	1	EFO	measurement	mental or behavioural disorder biomarker
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006848	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	563370	\N	\N	EFO	2	EFO	information entity	mental or behavioural disorder biomarker
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006848	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	1144592	\N	\N	EFO	3	EFO	experimental factor	mental or behavioural disorder biomarker
EFO:0006851	\N	\N	"Refers to abnormal cell activity manifested by decreased control over growth and function, causing tumor growth or spread into surrounding tissue and adverse effects to the host" []	EFO:0006851	"Refers to abnormal cell activity manifested by decreased control over growth and function, causing tumor growth or spread into surrounding tissue and adverse effects to the host" []	68117	\N	\N	EFO	0	EFO	malignant	malignant
HP:0012823	\N	\N	"This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects." [HPO:probinson]	EFO:0006851	"Refers to abnormal cell activity manifested by decreased control over growth and function, causing tumor growth or spread into surrounding tissue and adverse effects to the host" []	194814	\N	\N	EFO	0	EFO	Clinical modifier	malignant
EFO:0006852	\N	\N	"A term referring the clinical or pathological observation of a tumor extension from its original site of growth to another anatomic site." []	EFO:0006852	"A term referring the clinical or pathological observation of a tumor extension from its original site of growth to another anatomic site." []	68118	\N	\N	EFO	0	EFO	metastatic	metastatic
HP:0012823	\N	\N	"This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects." [HPO:probinson]	EFO:0006852	"A term referring the clinical or pathological observation of a tumor extension from its original site of growth to another anatomic site." []	194815	\N	\N	EFO	0	EFO	Clinical modifier	metastatic
EFO:0006856	\N	\N	"Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine. [http://www.uniprot.org/diseases/DI-01896]" []	EFO:0006856	"Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine. [http://www.uniprot.org/diseases/DI-01896]" []	68119	\N	\N	EFO	0	EFO	leucine-induced hypoglycemia	leucine-induced hypoglycemia
HP:0001943	\N	\N	"A decreased concentration of glucose in the blood." [HPO:curators]	EFO:0006856	"Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine. [http://www.uniprot.org/diseases/DI-01896]" []	194816	\N	\N	EFO	0	EFO	Hypoglycemia	leucine-induced hypoglycemia
EFO:0006857	\N	\N	"Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" []	EFO:0006857	"Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" []	68120	\N	\N	EFO	0	EFO	cerebral malaria	cerebral malaria
EFO:0001068	EFO:0006857	\N	"Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." []	EFO:0006857	"Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" []	210173	\N	\N	EFO	1	EFO	malaria	cerebral malaria
EFO:0005774	EFO:0006857	\N	"A disease affecting the brain or part of the brain." []	EFO:0006857	"Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" []	210174	\N	\N	EFO	1	EFO	brain disease	cerebral malaria
EFO:0001067	EFO:0001068	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0006857	"Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" []	563371	\N	\N	EFO	2	EFO	parasitic infection	cerebral malaria
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0006857	"Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" []	563372	\N	\N	EFO	2	EFO	nervous system disease	cerebral malaria
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0006857	"Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" []	1144593	\N	\N	EFO	3	EFO	infectious disease	cerebral malaria
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006857	"Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" []	1144594	\N	\N	EFO	3	EFO	disease	cerebral malaria
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006857	"Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" []	2027191	\N	\N	EFO	4	EFO	disease	cerebral malaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006857	"Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" []	3178777	\N	\N	EFO	5	EFO	disposition	cerebral malaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006857	"Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" []	4132699	\N	\N	EFO	6	EFO	material property	cerebral malaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006857	"Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma" []	5181025	\N	\N	EFO	7	EFO	experimental factor	cerebral malaria
EFO:0006858	\N	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006858	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	68121	\N	\N	EFO	0	EFO	epithelial neoplasm	epithelial neoplasm
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006858	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	210175	\N	\N	EFO	1	EFO	neoplasm	epithelial neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006858	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	563373	\N	\N	EFO	2	EFO	disease	epithelial neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006858	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	1144595	\N	\N	EFO	3	EFO	disposition	epithelial neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006858	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	2027193	\N	\N	EFO	4	EFO	material property	epithelial neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006858	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	3178779	\N	\N	EFO	5	EFO	experimental factor	epithelial neoplasm
EFO:0006859	\N	\N	"A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0006859	"A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	68122	\N	\N	EFO	0	EFO	head and neck malignant neoplasia	head and neck malignant neoplasia
EFO:0005950	EFO:0006859	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0006859	"A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	210176	\N	\N	EFO	1	EFO	head and neck neoplasia	head and neck malignant neoplasia
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0006859	"A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	563374	\N	\N	EFO	2	EFO	head disease	head and neck malignant neoplasia
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006859	"A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	563375	\N	\N	EFO	2	EFO	neoplasm	head and neck malignant neoplasia
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006859	"A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	1144596	\N	\N	EFO	3	EFO	disease	head and neck malignant neoplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006859	"A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	1144597	\N	\N	EFO	3	EFO	disease	head and neck malignant neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006859	"A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	2027194	\N	\N	EFO	4	EFO	disposition	head and neck malignant neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006859	"A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	3178780	\N	\N	EFO	5	EFO	material property	head and neck malignant neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006859	"A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	4388408	\N	\N	EFO	6	EFO	experimental factor	head and neck malignant neoplasia
EFO:0006861	\N	\N	"A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy" []	EFO:0006861	"A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy" []	68123	\N	\N	EFO	0	EFO	male breast carcinoma	male breast carcinoma
EFO:0000305	EFO:0006861	\N	"Tumors or cancer of the human BREAST." []	EFO:0006861	"A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy" []	210177	\N	\N	EFO	1	EFO	breast carcinoma	male breast carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0006861	"A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy" []	563376	\N	\N	EFO	2	EFO	carcinoma	male breast carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0006861	"A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy" []	1144598	\N	\N	EFO	3	EFO	cancer	male breast carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0006861	"A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy" []	1144599	\N	\N	EFO	3	EFO	epithelial neoplasm	male breast carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006861	"A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy" []	2027195	\N	\N	EFO	4	EFO	neoplasm	male breast carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006861	"A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy" []	2027196	\N	\N	EFO	4	EFO	neoplasm	male breast carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006861	"A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy" []	3178781	\N	\N	EFO	5	EFO	disease	male breast carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006861	"A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy" []	4388409	\N	\N	EFO	6	EFO	disposition	male breast carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006861	"A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy" []	5408883	\N	\N	EFO	7	EFO	material property	male breast carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006861	"A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy" []	6147524	\N	\N	EFO	8	EFO	experimental factor	male breast carcinoma
EFO:0006862	\N	\N	"A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." []	EFO:0006862	"A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." []	68124	\N	\N	EFO	0	EFO	Meniere disease	Meniere disease
EFO:0000524	EFO:0006862	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0006862	"A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." []	210178	\N	\N	EFO	1	EFO	head disease	Meniere disease
EFO:1001455	EFO:0006862	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:0006862	"A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." []	210179	\N	\N	EFO	1	EFO	auditory system disease	Meniere disease
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006862	"A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." []	563377	\N	\N	EFO	2	EFO	disease	Meniere disease
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0006862	"A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." []	563378	\N	\N	EFO	2	EFO	sensory system disease	Meniere disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006862	"A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." []	3178783	\N	\N	EFO	5	EFO	disposition	Meniere disease
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0006862	"A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." []	1144601	\N	\N	EFO	3	EFO	nervous system disease	Meniere disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006862	"A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." []	4066723	\N	\N	EFO	6	EFO	material property	Meniere disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006862	"A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." []	2027198	\N	\N	EFO	4	EFO	disease	Meniere disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006862	"A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." []	5059365	\N	\N	EFO	7	EFO	experimental factor	Meniere disease
EFO:0006864	\N	\N	"breastfeeding duration is a measurement of the mean number of months each mother breastfed each child, averaged across all live births and standardized to a Z-score" []	EFO:0006864	"breastfeeding duration is a measurement of the mean number of months each mother breastfed each child, averaged across all live births and standardized to a Z-score" []	68125	\N	\N	EFO	0	EFO	breastfeeding duration	breastfeeding duration
EFO:0000719	EFO:0006864	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0006864	"breastfeeding duration is a measurement of the mean number of months each mother breastfed each child, averaged across all live births and standardized to a Z-score" []	210180	\N	\N	EFO	1	EFO	temporal measurement	breastfeeding duration
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006864	"breastfeeding duration is a measurement of the mean number of months each mother breastfed each child, averaged across all live births and standardized to a Z-score" []	563379	\N	\N	EFO	2	EFO	measurement	breastfeeding duration
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006864	"breastfeeding duration is a measurement of the mean number of months each mother breastfed each child, averaged across all live births and standardized to a Z-score" []	1144602	\N	\N	EFO	3	EFO	information entity	breastfeeding duration
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006864	"breastfeeding duration is a measurement of the mean number of months each mother breastfed each child, averaged across all live births and standardized to a Z-score" []	2027199	\N	\N	EFO	4	EFO	experimental factor	breastfeeding duration
EFO:0006865	\N	\N	"urgency urinary incontinence is a form of urinary incontinence whereby the involuntary leakage of urine is immediately preceeded by an acute and compelling urge to urinate" []	EFO:0006865	"urgency urinary incontinence is a form of urinary incontinence whereby the involuntary leakage of urine is immediately preceeded by an acute and compelling urge to urinate" []	68126	\N	\N	EFO	0	EFO	urgency urinary incontinence	urgency urinary incontinence
HP:0000020	\N	\N	"Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken, pmid:12559262]	EFO:0006865	"urgency urinary incontinence is a form of urinary incontinence whereby the involuntary leakage of urine is immediately preceeded by an acute and compelling urge to urinate" []	194817	\N	\N	EFO	0	EFO	Urinary incontinence	urgency urinary incontinence
EFO:0006866	\N	\N	"quantification of the change in the heat and electricity passed through the skin by nerves and sweat. Skin conduction increases in certain emotional states and during hot flashes that happen with menopause." []	EFO:0006866	"quantification of the change in the heat and electricity passed through the skin by nerves and sweat. Skin conduction increases in certain emotional states and during hot flashes that happen with menopause." []	68127	\N	\N	EFO	0	EFO	electrodermal activity measurement	electrodermal activity measurement
EFO:0001444	EFO:0006866	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006866	"quantification of the change in the heat and electricity passed through the skin by nerves and sweat. Skin conduction increases in certain emotional states and during hot flashes that happen with menopause." []	210181	\N	\N	EFO	1	EFO	measurement	electrodermal activity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006866	"quantification of the change in the heat and electricity passed through the skin by nerves and sweat. Skin conduction increases in certain emotional states and during hot flashes that happen with menopause." []	563380	\N	\N	EFO	2	EFO	information entity	electrodermal activity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006866	"quantification of the change in the heat and electricity passed through the skin by nerves and sweat. Skin conduction increases in certain emotional states and during hot flashes that happen with menopause." []	1144603	\N	\N	EFO	3	EFO	experimental factor	electrodermal activity measurement
EFO:0006867	\N	\N	"The skin conductance level is a baseline measure that changes slowly with altered arousal state. SCL is measured as the median response during a 5-min relaxation period." []	EFO:0006867	"The skin conductance level is a baseline measure that changes slowly with altered arousal state. SCL is measured as the median response during a 5-min relaxation period." []	68128	\N	\N	EFO	0	EFO	skin conductance level	skin conductance level
EFO:0006866	EFO:0006867	\N	"quantification of the change in the heat and electricity passed through the skin by nerves and sweat. Skin conduction increases in certain emotional states and during hot flashes that happen with menopause." []	EFO:0006867	"The skin conductance level is a baseline measure that changes slowly with altered arousal state. SCL is measured as the median response during a 5-min relaxation period." []	210182	\N	\N	EFO	1	EFO	electrodermal activity measurement	skin conductance level
EFO:0001444	EFO:0006866	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006867	"The skin conductance level is a baseline measure that changes slowly with altered arousal state. SCL is measured as the median response during a 5-min relaxation period." []	563381	\N	\N	EFO	2	EFO	measurement	skin conductance level
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006867	"The skin conductance level is a baseline measure that changes slowly with altered arousal state. SCL is measured as the median response during a 5-min relaxation period." []	1144604	\N	\N	EFO	3	EFO	information entity	skin conductance level
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006867	"The skin conductance level is a baseline measure that changes slowly with altered arousal state. SCL is measured as the median response during a 5-min relaxation period." []	2027200	\N	\N	EFO	4	EFO	experimental factor	skin conductance level
EFO:0006868	\N	\N	"quantification of the difference in microsiemens between peak and baseline of the change in skin conductance that occurs in response to a discrete stimulus" []	EFO:0006868	"quantification of the difference in microsiemens between peak and baseline of the change in skin conductance that occurs in response to a discrete stimulus" []	68129	\N	\N	EFO	0	EFO	skin conductance response amplitude	skin conductance response amplitude
EFO:0006866	EFO:0006868	\N	"quantification of the change in the heat and electricity passed through the skin by nerves and sweat. Skin conduction increases in certain emotional states and during hot flashes that happen with menopause." []	EFO:0006868	"quantification of the difference in microsiemens between peak and baseline of the change in skin conductance that occurs in response to a discrete stimulus" []	210183	\N	\N	EFO	1	EFO	electrodermal activity measurement	skin conductance response amplitude
EFO:0001444	EFO:0006866	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006868	"quantification of the difference in microsiemens between peak and baseline of the change in skin conductance that occurs in response to a discrete stimulus" []	563382	\N	\N	EFO	2	EFO	measurement	skin conductance response amplitude
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006868	"quantification of the difference in microsiemens between peak and baseline of the change in skin conductance that occurs in response to a discrete stimulus" []	1144605	\N	\N	EFO	3	EFO	information entity	skin conductance response amplitude
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006868	"quantification of the difference in microsiemens between peak and baseline of the change in skin conductance that occurs in response to a discrete stimulus" []	2027201	\N	\N	EFO	4	EFO	experimental factor	skin conductance response amplitude
EFO:0006869	\N	\N	"quantification of the number of valid skin conductance change responses, used to gauge an individual's resistance to habituation" []	EFO:0006869	"quantification of the number of valid skin conductance change responses, used to gauge an individual's resistance to habituation" []	68130	\N	\N	EFO	0	EFO	skin conductance response frequency	skin conductance response frequency
EFO:0006866	EFO:0006869	\N	"quantification of the change in the heat and electricity passed through the skin by nerves and sweat. Skin conduction increases in certain emotional states and during hot flashes that happen with menopause." []	EFO:0006869	"quantification of the number of valid skin conductance change responses, used to gauge an individual's resistance to habituation" []	210184	\N	\N	EFO	1	EFO	electrodermal activity measurement	skin conductance response frequency
EFO:0001444	EFO:0006866	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006869	"quantification of the number of valid skin conductance change responses, used to gauge an individual's resistance to habituation" []	563383	\N	\N	EFO	2	EFO	measurement	skin conductance response frequency
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006869	"quantification of the number of valid skin conductance change responses, used to gauge an individual's resistance to habituation" []	1144606	\N	\N	EFO	3	EFO	information entity	skin conductance response frequency
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006869	"quantification of the number of valid skin conductance change responses, used to gauge an individual's resistance to habituation" []	2027202	\N	\N	EFO	4	EFO	experimental factor	skin conductance response frequency
EFO:0006870	\N	\N	"quantification of the wave-like oscillations in the alpha band (8-13 Hz) of electric potential between parts of the brain" []	EFO:0006870	"quantification of the wave-like oscillations in the alpha band (8-13 Hz) of electric potential between parts of the brain" []	68131	\N	\N	EFO	0	EFO	alpha wave measurement	alpha wave measurement
EFO:0004357	EFO:0006870	\N	"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." []	EFO:0006870	"quantification of the wave-like oscillations in the alpha band (8-13 Hz) of electric potential between parts of the brain" []	210185	\N	\N	EFO	1	EFO	electroencephalogram measurement	alpha wave measurement
EFO:0004464	EFO:0004357	\N	"" []	EFO:0006870	"quantification of the wave-like oscillations in the alpha band (8-13 Hz) of electric potential between parts of the brain" []	563384	\N	\N	EFO	2	EFO	brain measurement	alpha wave measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006870	"quantification of the wave-like oscillations in the alpha band (8-13 Hz) of electric potential between parts of the brain" []	1144607	\N	\N	EFO	3	EFO	measurement	alpha wave measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006870	"quantification of the wave-like oscillations in the alpha band (8-13 Hz) of electric potential between parts of the brain" []	2027203	\N	\N	EFO	4	EFO	information entity	alpha wave measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006870	"quantification of the wave-like oscillations in the alpha band (8-13 Hz) of electric potential between parts of the brain" []	3178784	\N	\N	EFO	5	EFO	experimental factor	alpha wave measurement
EFO:0006871	\N	\N	"quantification of the wave-like oscillations in the beta band (13-30 Hz) of electric potential between parts of the brain" []	EFO:0006871	"quantification of the wave-like oscillations in the beta band (13-30 Hz) of electric potential between parts of the brain" []	68132	\N	\N	EFO	0	EFO	beta wave measurement	beta wave measurement
EFO:0004357	EFO:0006871	\N	"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." []	EFO:0006871	"quantification of the wave-like oscillations in the beta band (13-30 Hz) of electric potential between parts of the brain" []	210186	\N	\N	EFO	1	EFO	electroencephalogram measurement	beta wave measurement
EFO:0004464	EFO:0004357	\N	"" []	EFO:0006871	"quantification of the wave-like oscillations in the beta band (13-30 Hz) of electric potential between parts of the brain" []	563385	\N	\N	EFO	2	EFO	brain measurement	beta wave measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006871	"quantification of the wave-like oscillations in the beta band (13-30 Hz) of electric potential between parts of the brain" []	1144608	\N	\N	EFO	3	EFO	measurement	beta wave measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006871	"quantification of the wave-like oscillations in the beta band (13-30 Hz) of electric potential between parts of the brain" []	2027204	\N	\N	EFO	4	EFO	information entity	beta wave measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006871	"quantification of the wave-like oscillations in the beta band (13-30 Hz) of electric potential between parts of the brain" []	3178785	\N	\N	EFO	5	EFO	experimental factor	beta wave measurement
EFO:0006872	\N	\N	"quantification of the wave-like oscillations in the delta band (0.1-4 Hz) of electric potential between parts of the brain" []	EFO:0006872	"quantification of the wave-like oscillations in the delta band (0.1-4 Hz) of electric potential between parts of the brain" []	68133	\N	\N	EFO	0	EFO	delta wave measurement	delta wave measurement
EFO:0004357	EFO:0006872	\N	"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." []	EFO:0006872	"quantification of the wave-like oscillations in the delta band (0.1-4 Hz) of electric potential between parts of the brain" []	210187	\N	\N	EFO	1	EFO	electroencephalogram measurement	delta wave measurement
EFO:0004464	EFO:0004357	\N	"" []	EFO:0006872	"quantification of the wave-like oscillations in the delta band (0.1-4 Hz) of electric potential between parts of the brain" []	563386	\N	\N	EFO	2	EFO	brain measurement	delta wave measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006872	"quantification of the wave-like oscillations in the delta band (0.1-4 Hz) of electric potential between parts of the brain" []	1144609	\N	\N	EFO	3	EFO	measurement	delta wave measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006872	"quantification of the wave-like oscillations in the delta band (0.1-4 Hz) of electric potential between parts of the brain" []	2027205	\N	\N	EFO	4	EFO	information entity	delta wave measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006872	"quantification of the wave-like oscillations in the delta band (0.1-4 Hz) of electric potential between parts of the brain" []	3178786	\N	\N	EFO	5	EFO	experimental factor	delta wave measurement
EFO:0006873	\N	\N	"quantification of the wave-like oscillations in the theta band (4-8 Hz) of electric potential between parts of the brain" []	EFO:0006873	"quantification of the wave-like oscillations in the theta band (4-8 Hz) of electric potential between parts of the brain" []	68134	\N	\N	EFO	0	EFO	theta wave measurement	theta wave measurement
EFO:0004357	EFO:0006873	\N	"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." []	EFO:0006873	"quantification of the wave-like oscillations in the theta band (4-8 Hz) of electric potential between parts of the brain" []	210188	\N	\N	EFO	1	EFO	electroencephalogram measurement	theta wave measurement
EFO:0004464	EFO:0004357	\N	"" []	EFO:0006873	"quantification of the wave-like oscillations in the theta band (4-8 Hz) of electric potential between parts of the brain" []	563387	\N	\N	EFO	2	EFO	brain measurement	theta wave measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006873	"quantification of the wave-like oscillations in the theta band (4-8 Hz) of electric potential between parts of the brain" []	1144610	\N	\N	EFO	3	EFO	measurement	theta wave measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006873	"quantification of the wave-like oscillations in the theta band (4-8 Hz) of electric potential between parts of the brain" []	2027206	\N	\N	EFO	4	EFO	information entity	theta wave measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006873	"quantification of the wave-like oscillations in the theta band (4-8 Hz) of electric potential between parts of the brain" []	3178787	\N	\N	EFO	5	EFO	experimental factor	theta wave measurement
EFO:0006874	\N	\N	"Quantification of the error rate reflecting the proportion of trials in an antisaccade task that resulted in a prosaccade response. An antisaccade task invovles the suppression of the involuntary saccade towards a stimulus (prosaccade response) following a period of fixation on a motionless target." []	EFO:0006874	"Quantification of the error rate reflecting the proportion of trials in an antisaccade task that resulted in a prosaccade response. An antisaccade task invovles the suppression of the involuntary saccade towards a stimulus (prosaccade response) following a period of fixation on a motionless target." []	68135	\N	\N	EFO	0	EFO	antisaccade response measurement	antisaccade response measurement
EFO:0001444	EFO:0006874	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006874	"Quantification of the error rate reflecting the proportion of trials in an antisaccade task that resulted in a prosaccade response. An antisaccade task invovles the suppression of the involuntary saccade towards a stimulus (prosaccade response) following a period of fixation on a motionless target." []	210189	\N	\N	EFO	1	EFO	measurement	antisaccade response measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006874	"Quantification of the error rate reflecting the proportion of trials in an antisaccade task that resulted in a prosaccade response. An antisaccade task invovles the suppression of the involuntary saccade towards a stimulus (prosaccade response) following a period of fixation on a motionless target." []	563388	\N	\N	EFO	2	EFO	information entity	antisaccade response measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006874	"Quantification of the error rate reflecting the proportion of trials in an antisaccade task that resulted in a prosaccade response. An antisaccade task invovles the suppression of the involuntary saccade towards a stimulus (prosaccade response) following a period of fixation on a motionless target." []	1144611	\N	\N	EFO	3	EFO	experimental factor	antisaccade response measurement
EFO:0006875	\N	\N	"quantification of an individual's eye blink response to a startling acoustic stimulus, measured via electrodes placed on the orbicularis oculi muscle" []	EFO:0006875	"quantification of an individual's eye blink response to a startling acoustic stimulus, measured via electrodes placed on the orbicularis oculi muscle" []	68136	\N	\N	EFO	0	EFO	acoustic startle blink response measurement	acoustic startle blink response measurement
EFO:0004731	EFO:0006875	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0006875	"quantification of an individual's eye blink response to a startling acoustic stimulus, measured via electrodes placed on the orbicularis oculi muscle" []	210190	\N	\N	EFO	1	EFO	eye measurement	acoustic startle blink response measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006875	"quantification of an individual's eye blink response to a startling acoustic stimulus, measured via electrodes placed on the orbicularis oculi muscle" []	563389	\N	\N	EFO	2	EFO	measurement	acoustic startle blink response measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006875	"quantification of an individual's eye blink response to a startling acoustic stimulus, measured via electrodes placed on the orbicularis oculi muscle" []	1144612	\N	\N	EFO	3	EFO	information entity	acoustic startle blink response measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006875	"quantification of an individual's eye blink response to a startling acoustic stimulus, measured via electrodes placed on the orbicularis oculi muscle" []	2027207	\N	\N	EFO	4	EFO	experimental factor	acoustic startle blink response measurement
EFO:0006876	\N	\N	"Quantification of the seasonal changes in mood and behaviour, usually evaluated through a questionnaire such as the \\"Seasonal Pattern Assessment Questionnaire\\" (SPAQ). The resulting score is used as an indictaor to determine the potential presence of seasonal affective disorder SAD." []	EFO:0006876	"Quantification of the seasonal changes in mood and behaviour, usually evaluated through a questionnaire such as the \\"Seasonal Pattern Assessment Questionnaire\\" (SPAQ). The resulting score is used as an indictaor to determine the potential presence of seasonal affective disorder SAD." []	68137	\N	\N	EFO	0	EFO	seasonality measurement	seasonality measurement
EFO:0006848	EFO:0006876	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0006876	"Quantification of the seasonal changes in mood and behaviour, usually evaluated through a questionnaire such as the \\"Seasonal Pattern Assessment Questionnaire\\" (SPAQ). The resulting score is used as an indictaor to determine the potential presence of seasonal affective disorder SAD." []	210191	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	seasonality measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006876	"Quantification of the seasonal changes in mood and behaviour, usually evaluated through a questionnaire such as the \\"Seasonal Pattern Assessment Questionnaire\\" (SPAQ). The resulting score is used as an indictaor to determine the potential presence of seasonal affective disorder SAD." []	563390	\N	\N	EFO	2	EFO	measurement	seasonality measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006876	"Quantification of the seasonal changes in mood and behaviour, usually evaluated through a questionnaire such as the \\"Seasonal Pattern Assessment Questionnaire\\" (SPAQ). The resulting score is used as an indictaor to determine the potential presence of seasonal affective disorder SAD." []	1144613	\N	\N	EFO	3	EFO	information entity	seasonality measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006876	"Quantification of the seasonal changes in mood and behaviour, usually evaluated through a questionnaire such as the \\"Seasonal Pattern Assessment Questionnaire\\" (SPAQ). The resulting score is used as an indictaor to determine the potential presence of seasonal affective disorder SAD." []	2027208	\N	\N	EFO	4	EFO	experimental factor	seasonality measurement
EFO:0006882	\N	\N	"quantification of some aspect of suicide behaviour, eg suicide behaviour severity, assessed via a self-reported questionnaire or semi-structured interview" []	EFO:0006882	"quantification of some aspect of suicide behaviour, eg suicide behaviour severity, assessed via a self-reported questionnaire or semi-structured interview" []	68138	\N	\N	EFO	0	EFO	suicide behaviour measurement	suicide behaviour measurement
EFO:0006848	EFO:0006882	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0006882	"quantification of some aspect of suicide behaviour, eg suicide behaviour severity, assessed via a self-reported questionnaire or semi-structured interview" []	210192	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	suicide behaviour measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006882	"quantification of some aspect of suicide behaviour, eg suicide behaviour severity, assessed via a self-reported questionnaire or semi-structured interview" []	563391	\N	\N	EFO	2	EFO	measurement	suicide behaviour measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006882	"quantification of some aspect of suicide behaviour, eg suicide behaviour severity, assessed via a self-reported questionnaire or semi-structured interview" []	1144614	\N	\N	EFO	3	EFO	information entity	suicide behaviour measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006882	"quantification of some aspect of suicide behaviour, eg suicide behaviour severity, assessed via a self-reported questionnaire or semi-structured interview" []	2027209	\N	\N	EFO	4	EFO	experimental factor	suicide behaviour measurement
EFO:0006883	\N	\N	"quantification of the dominant frequency of the alpha band" []	EFO:0006883	"quantification of the dominant frequency of the alpha band" []	68139	\N	\N	EFO	0	EFO	alpha peak frequency measurement	alpha peak frequency measurement
EFO:0006870	EFO:0006883	\N	"quantification of the wave-like oscillations in the alpha band (8-13 Hz) of electric potential between parts of the brain" []	EFO:0006883	"quantification of the dominant frequency of the alpha band" []	210193	\N	\N	EFO	1	EFO	alpha wave measurement	alpha peak frequency measurement
EFO:0004357	EFO:0006870	\N	"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." []	EFO:0006883	"quantification of the dominant frequency of the alpha band" []	563392	\N	\N	EFO	2	EFO	electroencephalogram measurement	alpha peak frequency measurement
EFO:0004464	EFO:0004357	\N	"" []	EFO:0006883	"quantification of the dominant frequency of the alpha band" []	1144615	\N	\N	EFO	3	EFO	brain measurement	alpha peak frequency measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006883	"quantification of the dominant frequency of the alpha band" []	2027210	\N	\N	EFO	4	EFO	measurement	alpha peak frequency measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006883	"quantification of the dominant frequency of the alpha band" []	3178788	\N	\N	EFO	5	EFO	information entity	alpha peak frequency measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006883	"quantification of the dominant frequency of the alpha band" []	4388410	\N	\N	EFO	6	EFO	experimental factor	alpha peak frequency measurement
EFO:0006884	\N	\N	"A clinical term that indicates the presence of a white patch on the mucous membrane in the mouth which cannot be characterized as any other disease.  It may be a precancerous condition and in most cases histologic examination reveals keratosis." []	EFO:0006884	"A clinical term that indicates the presence of a white patch on the mucous membrane in the mouth which cannot be characterized as any other disease.  It may be a precancerous condition and in most cases histologic examination reveals keratosis." []	68140	\N	\N	EFO	0	EFO	mouth mucous membrane leukoplakia	mouth mucous membrane leukoplakia
HP:0002745	\N	\N	"A thickened white patch on the oral mucosa that cannot be rubbed off." [HPO:probinson, pmid:17944749]	EFO:0006884	"A clinical term that indicates the presence of a white patch on the mucous membrane in the mouth which cannot be characterized as any other disease.  It may be a precancerous condition and in most cases histologic examination reveals keratosis." []	194818	\N	hposlim_core	EFO	0	EFO	Oral leukoplakia	mouth mucous membrane leukoplakia
EFO:0006885	\N	\N	"A clinical term that indicates the presence of a white patch on the surface of the tongue which cannot be characterized as any other disease.  It may be a precancerous condition and in most cases histologic examination reveals keratosis." []	EFO:0006885	"A clinical term that indicates the presence of a white patch on the surface of the tongue which cannot be characterized as any other disease.  It may be a precancerous condition and in most cases histologic examination reveals keratosis." []	68141	\N	\N	EFO	0	EFO	leukoplakia of tongue	leukoplakia of tongue
HP:0002745	\N	\N	"A thickened white patch on the oral mucosa that cannot be rubbed off." [HPO:probinson, pmid:17944749]	EFO:0006885	"A clinical term that indicates the presence of a white patch on the surface of the tongue which cannot be characterized as any other disease.  It may be a precancerous condition and in most cases histologic examination reveals keratosis." []	194819	\N	hposlim_core	EFO	0	EFO	Oral leukoplakia	leukoplakia of tongue
EFO:0006886	\N	\N	"An abnormality of the pancreatic and biliary ducts in which their junction occurs above the duodenal wall." []	EFO:0006886	"An abnormality of the pancreatic and biliary ducts in which their junction occurs above the duodenal wall." []	68142	\N	\N	EFO	0	EFO	pancreaticobiliary malunion	pancreaticobiliary malunion
HP:0001438	\N	\N	"A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax." [HPO:probinson]	EFO:0006886	"An abnormality of the pancreatic and biliary ducts in which their junction occurs above the duodenal wall." []	194820	\N	\N	EFO	0	EFO	Abnormality of abdomen morphology	pancreaticobiliary malunion
EFO:0006887	\N	\N	"Imaging results obtained through a radiology procedure." []	EFO:0006887	"Imaging results obtained through a radiology procedure." []	68143	\N	\N	EFO	0	EFO	radiologic finding	radiologic finding
EFO:0003765	EFO:0006887	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0006887	"Imaging results obtained through a radiology procedure." []	210194	\N	\N	EFO	1	EFO	sign or symptom	radiologic finding
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006887	"Imaging results obtained through a radiology procedure." []	563393	\N	\N	EFO	2	EFO	phenotype	radiologic finding
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006887	"Imaging results obtained through a radiology procedure." []	1144616	\N	\N	EFO	3	EFO	quality	radiologic finding
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006887	"Imaging results obtained through a radiology procedure." []	2027211	\N	\N	EFO	4	EFO	material property	radiologic finding
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006887	"Imaging results obtained through a radiology procedure." []	3178789	\N	\N	EFO	5	EFO	experimental factor	radiologic finding
EFO:0006888	\N	\N	"A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels." []	EFO:0006888	"A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels." []	68144	\N	\N	EFO	0	EFO	vascular malformation	vascular malformation
HP:0002597	\N	\N	"An abnormality of the vasculature." [HPO:probinson]	EFO:0006888	"A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels." []	194821	\N	\N	EFO	0	EFO	Abnormality of the vasculature	vascular malformation
EFO:0006889	\N	\N	"A monoclonal expansion of B-lymphocytes with or without the characteristic immunophenotype of chronic lymphocytic leukemia." []	EFO:0006889	"A monoclonal expansion of B-lymphocytes with or without the characteristic immunophenotype of chronic lymphocytic leukemia." []	68145	\N	\N	EFO	0	EFO	monoclonal B-cell lymphocytosis	monoclonal B-cell lymphocytosis
HP:0001871	\N	\N	"An abnormality of the hematopoietic system." [HPO:probinson]	EFO:0006889	"A monoclonal expansion of B-lymphocytes with or without the characteristic immunophenotype of chronic lymphocytic leukemia." []	194822	\N	\N	EFO	0	EFO	Abnormality of blood and blood-forming tissues	monoclonal B-cell lymphocytosis
EFO:0006890	\N	\N	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	EFO:0006890	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	68146	\N	\N	EFO	0	EFO	fibrosis	fibrosis
EFO:0000616	EFO:0006890	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0006890	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	210195	\N	\N	EFO	1	EFO	neoplasm	fibrosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0006890	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	563394	\N	\N	EFO	2	EFO	disease	fibrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0006890	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	1144617	\N	\N	EFO	3	EFO	disposition	fibrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006890	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	2027212	\N	\N	EFO	4	EFO	material property	fibrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006890	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	3178790	\N	\N	EFO	5	EFO	experimental factor	fibrosis
EFO:0006891	\N	\N	"A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules.  It may be associated with apocrine changes or sclerosis." []	EFO:0006891	"A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules.  It may be associated with apocrine changes or sclerosis." []	68147	\N	\N	EFO	0	EFO	breast adenosis	breast adenosis
EFO:0000651	EFO:0006891	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006891	"A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules.  It may be associated with apocrine changes or sclerosis." []	210196	\N	\N	EFO	1	EFO	phenotype	breast adenosis
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006891	"A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules.  It may be associated with apocrine changes or sclerosis." []	563395	\N	\N	EFO	2	EFO	quality	breast adenosis
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006891	"A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules.  It may be associated with apocrine changes or sclerosis." []	1144618	\N	\N	EFO	3	EFO	material property	breast adenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006891	"A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules.  It may be associated with apocrine changes or sclerosis." []	2027213	\N	\N	EFO	4	EFO	experimental factor	breast adenosis
EFO:0006892	\N	\N	"A skin disease marked by scaly or thickened patches on the skin, and often caused by prolonged exposure to arsenic. The patches often occur on sunexposed areas of the skin and in older white men. These patches may become malignant (cancerous)." []	EFO:0006892	"A skin disease marked by scaly or thickened patches on the skin, and often caused by prolonged exposure to arsenic. The patches often occur on sunexposed areas of the skin and in older white men. These patches may become malignant (cancerous)." []	68148	\N	\N	EFO	0	EFO	cutaneous precancerous condition	cutaneous precancerous condition
HP:0000951	\N	\N	"An abnormality of the skin." [HPO:probinson]	EFO:0006892	"A skin disease marked by scaly or thickened patches on the skin, and often caused by prolonged exposure to arsenic. The patches often occur on sunexposed areas of the skin and in older white men. These patches may become malignant (cancerous)." []	194823	\N	hposlim_core	EFO	0	EFO	Abnormality of the skin	cutaneous precancerous condition
EFO:0006893	\N	\N	"A lesion in the prostate gland characterized by glandular atrophy, chronic inflammation, and epithelial hyperplasia.  It has been suggested that it is a precancerous lesion and it may lead to the development of prostatic intraepithelial neoplasia and prostatic carcinoma." []	EFO:0006893	"A lesion in the prostate gland characterized by glandular atrophy, chronic inflammation, and epithelial hyperplasia.  It has been suggested that it is a precancerous lesion and it may lead to the development of prostatic intraepithelial neoplasia and prostatic carcinoma." []	68149	\N	\N	EFO	0	EFO	proliferative inflammatory atrophy	proliferative inflammatory atrophy
EFO:1000096	EFO:0006893	\N	"Any weakening or degeneration, especially through lack of use." []	EFO:0006893	"A lesion in the prostate gland characterized by glandular atrophy, chronic inflammation, and epithelial hyperplasia.  It has been suggested that it is a precancerous lesion and it may lead to the development of prostatic intraepithelial neoplasia and prostatic carcinoma." []	210197	\N	\N	EFO	1	EFO	Atrophy	proliferative inflammatory atrophy
EFO:0006896	\N	\N	"quantification of some aspect of glucose homeostasis" []	EFO:0006896	"quantification of some aspect of glucose homeostasis" []	68150	\N	\N	EFO	0	EFO	glucose homeostasis measurement	glucose homeostasis measurement
EFO:0001444	EFO:0006896	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006896	"quantification of some aspect of glucose homeostasis" []	210198	\N	\N	EFO	1	EFO	measurement	glucose homeostasis measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006896	"quantification of some aspect of glucose homeostasis" []	563396	\N	\N	EFO	2	EFO	information entity	glucose homeostasis measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006896	"quantification of some aspect of glucose homeostasis" []	1144619	\N	\N	EFO	3	EFO	experimental factor	glucose homeostasis measurement
EFO:0006897	\N	\N	"quantification of airway responsiveness, calculated as the concentration of methacholine at which a greater than 20% decresase in FEV1 is achieved during a bronchial challenge test" []	EFO:0006897	"quantification of airway responsiveness, calculated as the concentration of methacholine at which a greater than 20% decresase in FEV1 is achieved during a bronchial challenge test" []	68151	\N	\N	EFO	0	EFO	airway responsiveness measurement	airway responsiveness measurement
EFO:0003892	EFO:0006897	\N	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	EFO:0006897	"quantification of airway responsiveness, calculated as the concentration of methacholine at which a greater than 20% decresase in FEV1 is achieved during a bronchial challenge test" []	210199	\N	\N	EFO	1	EFO	pulmonary function measurement	airway responsiveness measurement
EFO:0001444	EFO:0003892	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006897	"quantification of airway responsiveness, calculated as the concentration of methacholine at which a greater than 20% decresase in FEV1 is achieved during a bronchial challenge test" []	563397	\N	\N	EFO	2	EFO	measurement	airway responsiveness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006897	"quantification of airway responsiveness, calculated as the concentration of methacholine at which a greater than 20% decresase in FEV1 is achieved during a bronchial challenge test" []	1144620	\N	\N	EFO	3	EFO	information entity	airway responsiveness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006897	"quantification of airway responsiveness, calculated as the concentration of methacholine at which a greater than 20% decresase in FEV1 is achieved during a bronchial challenge test" []	2027214	\N	\N	EFO	4	EFO	experimental factor	airway responsiveness measurement
EFO:0006898	\N	\N	"Quantification of the thickness of the walls of different parts of the respiratory tract, calculated from cross-sectional CT images. This measure can be used as an indicator of airway obstruction severity in COPD." []	EFO:0006898	"Quantification of the thickness of the walls of different parts of the respiratory tract, calculated from cross-sectional CT images. This measure can be used as an indicator of airway obstruction severity in COPD." []	68152	\N	\N	EFO	0	EFO	airway wall thickness measurement	airway wall thickness measurement
EFO:0003892	EFO:0006898	\N	"Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." []	EFO:0006898	"Quantification of the thickness of the walls of different parts of the respiratory tract, calculated from cross-sectional CT images. This measure can be used as an indicator of airway obstruction severity in COPD." []	210200	\N	\N	EFO	1	EFO	pulmonary function measurement	airway wall thickness measurement
EFO:0001444	EFO:0003892	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006898	"Quantification of the thickness of the walls of different parts of the respiratory tract, calculated from cross-sectional CT images. This measure can be used as an indicator of airway obstruction severity in COPD." []	563398	\N	\N	EFO	2	EFO	measurement	airway wall thickness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006898	"Quantification of the thickness of the walls of different parts of the respiratory tract, calculated from cross-sectional CT images. This measure can be used as an indicator of airway obstruction severity in COPD." []	1144621	\N	\N	EFO	3	EFO	information entity	airway wall thickness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006898	"Quantification of the thickness of the walls of different parts of the respiratory tract, calculated from cross-sectional CT images. This measure can be used as an indicator of airway obstruction severity in COPD." []	2027215	\N	\N	EFO	4	EFO	experimental factor	airway wall thickness measurement
EFO:0006899	\N	\N	"quantification of PCSK9 protein in the blood" []	EFO:0006899	"quantification of PCSK9 protein in the blood" []	68153	\N	\N	EFO	0	EFO	PCSK9 protein measurement	PCSK9 protein measurement
EFO:0004747	EFO:0006899	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006899	"quantification of PCSK9 protein in the blood" []	210201	\N	\N	EFO	1	EFO	protein measurement	PCSK9 protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006899	"quantification of PCSK9 protein in the blood" []	563399	\N	\N	EFO	2	EFO	measurement	PCSK9 protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006899	"quantification of PCSK9 protein in the blood" []	1144622	\N	\N	EFO	3	EFO	information entity	PCSK9 protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006899	"quantification of PCSK9 protein in the blood" []	2027216	\N	\N	EFO	4	EFO	experimental factor	PCSK9 protein measurement
EFO:0006900	\N	\N	"quantification of some circulating endothelial growth factor in blood" []	EFO:0006900	"quantification of some circulating endothelial growth factor in blood" []	68154	\N	\N	EFO	0	EFO	endothelial growth factor measurement	endothelial growth factor measurement
EFO:0004747	EFO:0006900	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006900	"quantification of some circulating endothelial growth factor in blood" []	210202	\N	\N	EFO	1	EFO	protein measurement	endothelial growth factor measurement
EFO:0005278	EFO:0006900	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006900	"quantification of some circulating endothelial growth factor in blood" []	210203	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	endothelial growth factor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006900	"quantification of some circulating endothelial growth factor in blood" []	563400	\N	\N	EFO	2	EFO	measurement	endothelial growth factor measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006900	"quantification of some circulating endothelial growth factor in blood" []	563401	\N	\N	EFO	2	EFO	cardiovascular measurement	endothelial growth factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006900	"quantification of some circulating endothelial growth factor in blood" []	2027218	\N	\N	EFO	4	EFO	information entity	endothelial growth factor measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006900	"quantification of some circulating endothelial growth factor in blood" []	1144624	\N	\N	EFO	3	EFO	measurement	endothelial growth factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006900	"quantification of some circulating endothelial growth factor in blood" []	2999809	\N	\N	EFO	5	EFO	experimental factor	endothelial growth factor measurement
EFO:0006901	\N	\N	"quantification of circulating angiotensin-2 in blood" []	EFO:0006901	"quantification of circulating angiotensin-2 in blood" []	68155	\N	\N	EFO	0	EFO	angiopoietin-2 measurement	angiopoietin-2 measurement
EFO:0006900	EFO:0006901	\N	"quantification of some circulating endothelial growth factor in blood" []	EFO:0006901	"quantification of circulating angiotensin-2 in blood" []	210204	\N	\N	EFO	1	EFO	endothelial growth factor measurement	angiopoietin-2 measurement
EFO:0004747	EFO:0006900	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006901	"quantification of circulating angiotensin-2 in blood" []	563402	\N	\N	EFO	2	EFO	protein measurement	angiopoietin-2 measurement
EFO:0005278	EFO:0006900	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006901	"quantification of circulating angiotensin-2 in blood" []	563403	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	angiopoietin-2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006901	"quantification of circulating angiotensin-2 in blood" []	1144625	\N	\N	EFO	3	EFO	measurement	angiopoietin-2 measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006901	"quantification of circulating angiotensin-2 in blood" []	1144626	\N	\N	EFO	3	EFO	cardiovascular measurement	angiopoietin-2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006901	"quantification of circulating angiotensin-2 in blood" []	3178792	\N	\N	EFO	5	EFO	information entity	angiopoietin-2 measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006901	"quantification of circulating angiotensin-2 in blood" []	2027220	\N	\N	EFO	4	EFO	measurement	angiopoietin-2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006901	"quantification of circulating angiotensin-2 in blood" []	4132700	\N	\N	EFO	6	EFO	experimental factor	angiopoietin-2 measurement
EFO:0006902	\N	\N	"quantification of circulating angiopoietin-2 receptor in blood" []	EFO:0006902	"quantification of circulating angiopoietin-2 receptor in blood" []	68156	\N	\N	EFO	0	EFO	angiopoietin-2 receptor measurement	angiopoietin-2 receptor measurement
EFO:0006900	EFO:0006902	\N	"quantification of some circulating endothelial growth factor in blood" []	EFO:0006902	"quantification of circulating angiopoietin-2 receptor in blood" []	210205	\N	\N	EFO	1	EFO	endothelial growth factor measurement	angiopoietin-2 receptor measurement
EFO:0004747	EFO:0006900	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006902	"quantification of circulating angiopoietin-2 receptor in blood" []	563404	\N	\N	EFO	2	EFO	protein measurement	angiopoietin-2 receptor measurement
EFO:0005278	EFO:0006900	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006902	"quantification of circulating angiopoietin-2 receptor in blood" []	563405	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	angiopoietin-2 receptor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006902	"quantification of circulating angiopoietin-2 receptor in blood" []	1144627	\N	\N	EFO	3	EFO	measurement	angiopoietin-2 receptor measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006902	"quantification of circulating angiopoietin-2 receptor in blood" []	1144628	\N	\N	EFO	3	EFO	cardiovascular measurement	angiopoietin-2 receptor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006902	"quantification of circulating angiopoietin-2 receptor in blood" []	3178794	\N	\N	EFO	5	EFO	information entity	angiopoietin-2 receptor measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006902	"quantification of circulating angiopoietin-2 receptor in blood" []	2027222	\N	\N	EFO	4	EFO	measurement	angiopoietin-2 receptor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006902	"quantification of circulating angiopoietin-2 receptor in blood" []	4132701	\N	\N	EFO	6	EFO	experimental factor	angiopoietin-2 receptor measurement
EFO:0006903	\N	\N	"quantification of circulating hepatocyte growth factor in blood" []	EFO:0006903	"quantification of circulating hepatocyte growth factor in blood" []	68157	\N	\N	EFO	0	EFO	hepatocyte growth factor measurement	hepatocyte growth factor measurement
EFO:0006900	EFO:0006903	\N	"quantification of some circulating endothelial growth factor in blood" []	EFO:0006903	"quantification of circulating hepatocyte growth factor in blood" []	210206	\N	\N	EFO	1	EFO	endothelial growth factor measurement	hepatocyte growth factor measurement
EFO:0004747	EFO:0006900	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006903	"quantification of circulating hepatocyte growth factor in blood" []	563406	\N	\N	EFO	2	EFO	protein measurement	hepatocyte growth factor measurement
EFO:0005278	EFO:0006900	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006903	"quantification of circulating hepatocyte growth factor in blood" []	563407	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	hepatocyte growth factor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006903	"quantification of circulating hepatocyte growth factor in blood" []	1144629	\N	\N	EFO	3	EFO	measurement	hepatocyte growth factor measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006903	"quantification of circulating hepatocyte growth factor in blood" []	1144630	\N	\N	EFO	3	EFO	cardiovascular measurement	hepatocyte growth factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006903	"quantification of circulating hepatocyte growth factor in blood" []	3178796	\N	\N	EFO	5	EFO	information entity	hepatocyte growth factor measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006903	"quantification of circulating hepatocyte growth factor in blood" []	2027224	\N	\N	EFO	4	EFO	measurement	hepatocyte growth factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006903	"quantification of circulating hepatocyte growth factor in blood" []	4132702	\N	\N	EFO	6	EFO	experimental factor	hepatocyte growth factor measurement
EFO:0006904	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of  treatment with efavirenz, a non-nucleoside reverse transcriptase inhibitor used in treatment of HIV/AIDS." []	EFO:0006904	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of  treatment with efavirenz, a non-nucleoside reverse transcriptase inhibitor used in treatment of HIV/AIDS." []	68158	\N	\N	EFO	0	EFO	response to efavirenz	response to efavirenz
GO:0061479	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reverse transcriptase inhibitor stimulus." [GOC:dph]	EFO:0006904	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of  treatment with efavirenz, a non-nucleoside reverse transcriptase inhibitor used in treatment of HIV/AIDS." []	194824	\N	\N	EFO	0	EFO	response to reverse transcriptase inhibitor	response to efavirenz
EFO:0006905	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with abacavir, a nucleoside reverse transcriptase inhibitor used in treatment of HIV/AIDS." []	EFO:0006905	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with abacavir, a nucleoside reverse transcriptase inhibitor used in treatment of HIV/AIDS." []	68159	\N	\N	EFO	0	EFO	response to abacavir	response to abacavir
GO:0061479	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reverse transcriptase inhibitor stimulus." [GOC:dph]	EFO:0006905	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with abacavir, a nucleoside reverse transcriptase inhibitor used in treatment of HIV/AIDS." []	194825	\N	\N	EFO	0	EFO	response to reverse transcriptase inhibitor	response to abacavir
EFO:0006906	\N	\N	"quantification of the change in viral disease status in response to treatment" []	EFO:0006906	"quantification of the change in viral disease status in response to treatment" []	68160	\N	\N	EFO	0	EFO	virologic response measurement	virologic response measurement
EFO:0006843	EFO:0006906	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0006906	"quantification of the change in viral disease status in response to treatment" []	210207	\N	\N	EFO	1	EFO	infectious disease biomarker	virologic response measurement
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006906	"quantification of the change in viral disease status in response to treatment" []	563408	\N	\N	EFO	2	EFO	measurement	virologic response measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006906	"quantification of the change in viral disease status in response to treatment" []	1144631	\N	\N	EFO	3	EFO	information entity	virologic response measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006906	"quantification of the change in viral disease status in response to treatment" []	2027225	\N	\N	EFO	4	EFO	experimental factor	virologic response measurement
EFO:0006907	\N	\N	"" []	EFO:0006907	"" []	68161	\N	\N	EFO	0	EFO	HPL1A	HPL1A
EFO:0001641	EFO:0006907	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006907	"" []	210208	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HPL1A
EFO:0002888	EFO:0006907	\N	"" []	EFO:0006907	"" []	210209	\N	\N	EFO	1	EFO	Homo sapiens cell line	HPL1A
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006907	"" []	563409	\N	\N	EFO	2	EFO	cell line	HPL1A
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006907	"" []	563410	\N	\N	EFO	2	EFO	cell line	HPL1A
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006907	"" []	1144632	\N	\N	EFO	3	EFO	material entity	HPL1A
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006907	"" []	2027226	\N	\N	EFO	4	EFO	experimental factor	HPL1A
EFO:0006908	\N	\N	"" []	EFO:0006908	"" []	68162	\N	\N	EFO	0	EFO	HPL1C	HPL1C
EFO:0001641	EFO:0006908	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006908	"" []	210210	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HPL1C
EFO:0002888	EFO:0006908	\N	"" []	EFO:0006908	"" []	210211	\N	\N	EFO	1	EFO	Homo sapiens cell line	HPL1C
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006908	"" []	563411	\N	\N	EFO	2	EFO	cell line	HPL1C
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006908	"" []	563412	\N	\N	EFO	2	EFO	cell line	HPL1C
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006908	"" []	1144633	\N	\N	EFO	3	EFO	material entity	HPL1C
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006908	"" []	2027227	\N	\N	EFO	4	EFO	experimental factor	HPL1C
EFO:0006909	\N	\N	"" []	EFO:0006909	"" []	68163	\N	\N	EFO	0	EFO	HPL1D	HPL1D
EFO:0001641	EFO:0006909	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006909	"" []	210212	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HPL1D
EFO:0002888	EFO:0006909	\N	"" []	EFO:0006909	"" []	210213	\N	\N	EFO	1	EFO	Homo sapiens cell line	HPL1D
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006909	"" []	563413	\N	\N	EFO	2	EFO	cell line	HPL1D
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006909	"" []	563414	\N	\N	EFO	2	EFO	cell line	HPL1D
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006909	"" []	1144634	\N	\N	EFO	3	EFO	material entity	HPL1D
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006909	"" []	2027228	\N	\N	EFO	4	EFO	experimental factor	HPL1D
EFO:0006910	\N	\N	"" []	EFO:0006910	"" []	68164	\N	\N	EFO	0	EFO	HPL1E	HPL1E
EFO:0001641	EFO:0006910	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0006910	"" []	210214	\N	\N	EFO	1	EFO	epithelial cell derived cell line	HPL1E
EFO:0002888	EFO:0006910	\N	"" []	EFO:0006910	"" []	210215	\N	\N	EFO	1	EFO	Homo sapiens cell line	HPL1E
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006910	"" []	563415	\N	\N	EFO	2	EFO	cell line	HPL1E
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0006910	"" []	563416	\N	\N	EFO	2	EFO	cell line	HPL1E
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0006910	"" []	1144635	\N	\N	EFO	3	EFO	material entity	HPL1E
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006910	"" []	2027229	\N	\N	EFO	4	EFO	experimental factor	HPL1E
EFO:0006911	\N	\N	"" []	EFO:0006911	"" []	68165	\N	\N	EFO	0	EFO	Chemotherapy-induced nausea and vomiting	Chemotherapy-induced nausea and vomiting
HP:0002017	\N	\N	"" []	EFO:0006911	"" []	194826	\N	\N	EFO	0	EFO	Nausea and vomiting	Chemotherapy-induced nausea and vomiting
EFO:0006912	\N	\N	"" []	EFO:0006912	"" []	68166	\N	\N	EFO	0	EFO	Radiation-induced nausea and vomiting	Radiation-induced nausea and vomiting
HP:0002017	\N	\N	"" []	EFO:0006912	"" []	194827	\N	\N	EFO	0	EFO	Nausea and vomiting	Radiation-induced nausea and vomiting
EFO:0006913	\N	\N	"quantification of the cytoarchitecture, ie the cellular composition, of the prefrontal cortex of the brain" []	EFO:0006913	"quantification of the cytoarchitecture, ie the cellular composition, of the prefrontal cortex of the brain" []	68167	\N	\N	EFO	0	EFO	prefrontal cortex cytoarchtiectural measurement	prefrontal cortex cytoarchtiectural measurement
EFO:0001444	EFO:0006913	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006913	"quantification of the cytoarchitecture, ie the cellular composition, of the prefrontal cortex of the brain" []	210216	\N	\N	EFO	1	EFO	measurement	prefrontal cortex cytoarchtiectural measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006913	"quantification of the cytoarchitecture, ie the cellular composition, of the prefrontal cortex of the brain" []	563417	\N	\N	EFO	2	EFO	information entity	prefrontal cortex cytoarchtiectural measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006913	"quantification of the cytoarchitecture, ie the cellular composition, of the prefrontal cortex of the brain" []	1144636	\N	\N	EFO	3	EFO	experimental factor	prefrontal cortex cytoarchtiectural measurement
EFO:0006916	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with dalcetrapib, a cholesterylester transfer protein (CETP) inhibitor aimed at raising blood levels of HDL cholesterol" []	EFO:0006916	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with dalcetrapib, a cholesterylester transfer protein (CETP) inhibitor aimed at raising blood levels of HDL cholesterol" []	68168	\N	\N	EFO	0	EFO	response to dalcetrapib	response to dalcetrapib
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0006916	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with dalcetrapib, a cholesterylester transfer protein (CETP) inhibitor aimed at raising blood levels of HDL cholesterol" []	194828	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to dalcetrapib
EFO:0006917	\N	\N	"any birth that occurs spontaneously prior to 37 weeks of gestation, eg due to fetal membrane rupture or spontaneous onset of uterine contractions" []	EFO:0006917	"any birth that occurs spontaneously prior to 37 weeks of gestation, eg due to fetal membrane rupture or spontaneous onset of uterine contractions" []	68169	\N	\N	EFO	0	EFO	spontaneous preterm birth	spontaneous preterm birth
EFO:0003917	EFO:0006917	\N	"CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)." []	EFO:0006917	"any birth that occurs spontaneously prior to 37 weeks of gestation, eg due to fetal membrane rupture or spontaneous onset of uterine contractions" []	210217	\N	\N	EFO	1	EFO	premature birth	spontaneous preterm birth
EFO:0000651	EFO:0003917	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006917	"any birth that occurs spontaneously prior to 37 weeks of gestation, eg due to fetal membrane rupture or spontaneous onset of uterine contractions" []	563418	\N	\N	EFO	2	EFO	phenotype	spontaneous preterm birth
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006917	"any birth that occurs spontaneously prior to 37 weeks of gestation, eg due to fetal membrane rupture or spontaneous onset of uterine contractions" []	1144637	\N	\N	EFO	3	EFO	quality	spontaneous preterm birth
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006917	"any birth that occurs spontaneously prior to 37 weeks of gestation, eg due to fetal membrane rupture or spontaneous onset of uterine contractions" []	2027230	\N	\N	EFO	4	EFO	material property	spontaneous preterm birth
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006917	"any birth that occurs spontaneously prior to 37 weeks of gestation, eg due to fetal membrane rupture or spontaneous onset of uterine contractions" []	3178797	\N	\N	EFO	5	EFO	experimental factor	spontaneous preterm birth
EFO:0006918	\N	\N	"A fertility quality of inhering in a female by virtue of the bearer's disposition to initiate, sustain, or support reproduction." []	EFO:0006918	"A fertility quality of inhering in a female by virtue of the bearer's disposition to initiate, sustain, or support reproduction." []	68170	\N	\N	EFO	0	EFO	female fertility	female fertility
EFO:0000651	EFO:0006918	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006918	"A fertility quality of inhering in a female by virtue of the bearer's disposition to initiate, sustain, or support reproduction." []	210218	\N	\N	EFO	1	EFO	phenotype	female fertility
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006918	"A fertility quality of inhering in a female by virtue of the bearer's disposition to initiate, sustain, or support reproduction." []	563419	\N	\N	EFO	2	EFO	quality	female fertility
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006918	"A fertility quality of inhering in a female by virtue of the bearer's disposition to initiate, sustain, or support reproduction." []	1144638	\N	\N	EFO	3	EFO	material property	female fertility
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006918	"A fertility quality of inhering in a female by virtue of the bearer's disposition to initiate, sustain, or support reproduction." []	2027231	\N	\N	EFO	4	EFO	experimental factor	female fertility
EFO:0006919	\N	\N	"quantification of some cardiovascular event such as nonfatal myocardial infarction or atherothrombotic stroke" []	EFO:0006919	"quantification of some cardiovascular event such as nonfatal myocardial infarction or atherothrombotic stroke" []	68171	\N	\N	EFO	0	EFO	cardiovascular event measurement	cardiovascular event measurement
EFO:0005278	EFO:0006919	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006919	"quantification of some cardiovascular event such as nonfatal myocardial infarction or atherothrombotic stroke" []	210219	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	cardiovascular event measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006919	"quantification of some cardiovascular event such as nonfatal myocardial infarction or atherothrombotic stroke" []	563420	\N	\N	EFO	2	EFO	cardiovascular measurement	cardiovascular event measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006919	"quantification of some cardiovascular event such as nonfatal myocardial infarction or atherothrombotic stroke" []	1144639	\N	\N	EFO	3	EFO	measurement	cardiovascular event measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006919	"quantification of some cardiovascular event such as nonfatal myocardial infarction or atherothrombotic stroke" []	2027232	\N	\N	EFO	4	EFO	information entity	cardiovascular event measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006919	"quantification of some cardiovascular event such as nonfatal myocardial infarction or atherothrombotic stroke" []	3178798	\N	\N	EFO	5	EFO	experimental factor	cardiovascular event measurement
EFO:0006920	\N	\N	"quantification of B-type natriuretic peptide in a sample, eg in blood" []	EFO:0006920	"quantification of B-type natriuretic peptide in a sample, eg in blood" []	68172	\N	\N	EFO	0	EFO	BNP measurement	BNP measurement
EFO:0004747	EFO:0006920	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006920	"quantification of B-type natriuretic peptide in a sample, eg in blood" []	210220	\N	\N	EFO	1	EFO	protein measurement	BNP measurement
EFO:0005278	EFO:0006920	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0006920	"quantification of B-type natriuretic peptide in a sample, eg in blood" []	210221	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	BNP measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006920	"quantification of B-type natriuretic peptide in a sample, eg in blood" []	563421	\N	\N	EFO	2	EFO	measurement	BNP measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0006920	"quantification of B-type natriuretic peptide in a sample, eg in blood" []	563422	\N	\N	EFO	2	EFO	cardiovascular measurement	BNP measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006920	"quantification of B-type natriuretic peptide in a sample, eg in blood" []	2027234	\N	\N	EFO	4	EFO	information entity	BNP measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006920	"quantification of B-type natriuretic peptide in a sample, eg in blood" []	1144641	\N	\N	EFO	3	EFO	measurement	BNP measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006920	"quantification of B-type natriuretic peptide in a sample, eg in blood" []	2999810	\N	\N	EFO	5	EFO	experimental factor	BNP measurement
EFO:0006921	\N	\N	"quantification of some aspect of birth, eg whether it preterm or full term" []	EFO:0006921	"quantification of some aspect of birth, eg whether it preterm or full term" []	68173	\N	\N	EFO	0	EFO	birth measurement	birth measurement
EFO:0001444	EFO:0006921	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006921	"quantification of some aspect of birth, eg whether it preterm or full term" []	210222	\N	\N	EFO	1	EFO	measurement	birth measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006921	"quantification of some aspect of birth, eg whether it preterm or full term" []	563423	\N	\N	EFO	2	EFO	information entity	birth measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006921	"quantification of some aspect of birth, eg whether it preterm or full term" []	1144642	\N	\N	EFO	3	EFO	experimental factor	birth measurement
EFO:0006922	\N	\N	"quantification of some aspect of delivery, eg whether it occured preterm or at full term" []	EFO:0006922	"quantification of some aspect of delivery, eg whether it occured preterm or at full term" []	68174	\N	\N	EFO	0	EFO	delivery measurement	delivery measurement
EFO:0001444	EFO:0006922	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006922	"quantification of some aspect of delivery, eg whether it occured preterm or at full term" []	210223	\N	\N	EFO	1	EFO	measurement	delivery measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006922	"quantification of some aspect of delivery, eg whether it occured preterm or at full term" []	563424	\N	\N	EFO	2	EFO	information entity	delivery measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006922	"quantification of some aspect of delivery, eg whether it occured preterm or at full term" []	1144643	\N	\N	EFO	3	EFO	experimental factor	delivery measurement
EFO:0006923	\N	\N	"quantification of some aspect of fertility, eg number of children or number of births" []	EFO:0006923	"quantification of some aspect of fertility, eg number of children or number of births" []	68175	\N	\N	EFO	0	EFO	fertility measurement	fertility measurement
EFO:0001444	EFO:0006923	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006923	"quantification of some aspect of fertility, eg number of children or number of births" []	210224	\N	\N	EFO	1	EFO	measurement	fertility measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006923	"quantification of some aspect of fertility, eg number of children or number of births" []	563425	\N	\N	EFO	2	EFO	information entity	fertility measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006923	"quantification of some aspect of fertility, eg number of children or number of births" []	1144644	\N	\N	EFO	3	EFO	experimental factor	fertility measurement
EFO:0006924	\N	\N	"quantification of some aspect of air pollution in the home, eg from coal burning for cooking and heating, used as an environmental risk factor for lung cancer" []	EFO:0006924	"quantification of some aspect of air pollution in the home, eg from coal burning for cooking and heating, used as an environmental risk factor for lung cancer" []	68176	\N	\N	EFO	0	EFO	household air pollution measurement	household air pollution measurement
EFO:0006841	EFO:0006924	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0006924	"quantification of some aspect of air pollution in the home, eg from coal burning for cooking and heating, used as an environmental risk factor for lung cancer" []	210225	\N	\N	EFO	1	EFO	respiratory disease biomarker	household air pollution measurement
EFO:0008360	EFO:0006924	\N	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	EFO:0006924	"quantification of some aspect of air pollution in the home, eg from coal burning for cooking and heating, used as an environmental risk factor for lung cancer" []	210226	\N	\N	EFO	1	EFO	environmental exposure measurement	household air pollution measurement
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006924	"quantification of some aspect of air pollution in the home, eg from coal burning for cooking and heating, used as an environmental risk factor for lung cancer" []	563426	\N	\N	EFO	2	EFO	measurement	household air pollution measurement
EFO:0001444	EFO:0008360	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006924	"quantification of some aspect of air pollution in the home, eg from coal burning for cooking and heating, used as an environmental risk factor for lung cancer" []	563427	\N	\N	EFO	2	EFO	measurement	household air pollution measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006924	"quantification of some aspect of air pollution in the home, eg from coal burning for cooking and heating, used as an environmental risk factor for lung cancer" []	1144645	\N	\N	EFO	3	EFO	information entity	household air pollution measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006924	"quantification of some aspect of air pollution in the home, eg from coal burning for cooking and heating, used as an environmental risk factor for lung cancer" []	2027235	\N	\N	EFO	4	EFO	experimental factor	household air pollution measurement
EFO:0006925	\N	\N	"quantification of some lipoprotein A in a sample" []	EFO:0006925	"quantification of some lipoprotein A in a sample" []	68177	\N	\N	EFO	0	EFO	lipoprotein A measurement	lipoprotein A measurement
EFO:0004732	EFO:0006925	\N	"Is the quantification of some lipoprotein" []	EFO:0006925	"quantification of some lipoprotein A in a sample" []	210227	\N	\N	EFO	1	EFO	lipoprotein measurement	lipoprotein A measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006925	"quantification of some lipoprotein A in a sample" []	563428	\N	\N	EFO	2	EFO	protein measurement	lipoprotein A measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0006925	"quantification of some lipoprotein A in a sample" []	563429	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	lipoprotein A measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006925	"quantification of some lipoprotein A in a sample" []	1144646	\N	\N	EFO	3	EFO	measurement	lipoprotein A measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006925	"quantification of some lipoprotein A in a sample" []	1144647	\N	\N	EFO	3	EFO	measurement	lipoprotein A measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006925	"quantification of some lipoprotein A in a sample" []	2027236	\N	\N	EFO	4	EFO	information entity	lipoprotein A measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006925	"quantification of some lipoprotein A in a sample" []	3178799	\N	\N	EFO	5	EFO	experimental factor	lipoprotein A measurement
EFO:0006926	\N	\N	"Acquired aplastic anemia is a rare, serious blood disorder, due to failure of the bone marrow failure to produce blood cells. " []	EFO:0006926	"Acquired aplastic anemia is a rare, serious blood disorder, due to failure of the bone marrow failure to produce blood cells. " []	68178	\N	\N	EFO	0	EFO	acquired aplastic anemia	acquired aplastic anemia
HP:0001915	\N	\N	"Aplastic anemia is defined as pancytopenia with a hypocellular marrow." [HPO:probinson, pmid:21239768]	EFO:0006926	"Acquired aplastic anemia is a rare, serious blood disorder, due to failure of the bone marrow failure to produce blood cells. " []	194829	\N	\N	EFO	0	EFO	Aplastic anemia	acquired aplastic anemia
EFO:0006927	\N	\N	"Severe aplastic anemia (SAA) is a disease in which the bone marrow does not make enough blood cells for the body." []	EFO:0006927	"Severe aplastic anemia (SAA) is a disease in which the bone marrow does not make enough blood cells for the body." []	68179	\N	\N	EFO	0	EFO	severe aplastic anemia	severe aplastic anemia
HP:0001915	\N	\N	"Aplastic anemia is defined as pancytopenia with a hypocellular marrow." [HPO:probinson, pmid:21239768]	EFO:0006927	"Severe aplastic anemia (SAA) is a disease in which the bone marrow does not make enough blood cells for the body." []	194830	\N	\N	EFO	0	EFO	Aplastic anemia	severe aplastic anemia
EFO:0006928	\N	\N	"sympton caused by motion, as sea sickness, train sickness, car sickness, air sickness, or space motion sickness. It may include nausea, vomiting and dizziness." []	EFO:0006928	"sympton caused by motion, as sea sickness, train sickness, car sickness, air sickness, or space motion sickness. It may include nausea, vomiting and dizziness." []	68180	\N	\N	EFO	0	EFO	motion sickness	motion sickness
EFO:0003765	EFO:0006928	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0006928	"sympton caused by motion, as sea sickness, train sickness, car sickness, air sickness, or space motion sickness. It may include nausea, vomiting and dizziness." []	210228	\N	\N	EFO	1	EFO	sign or symptom	motion sickness
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006928	"sympton caused by motion, as sea sickness, train sickness, car sickness, air sickness, or space motion sickness. It may include nausea, vomiting and dizziness." []	563430	\N	\N	EFO	2	EFO	phenotype	motion sickness
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006928	"sympton caused by motion, as sea sickness, train sickness, car sickness, air sickness, or space motion sickness. It may include nausea, vomiting and dizziness." []	1144648	\N	\N	EFO	3	EFO	quality	motion sickness
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006928	"sympton caused by motion, as sea sickness, train sickness, car sickness, air sickness, or space motion sickness. It may include nausea, vomiting and dizziness." []	2027237	\N	\N	EFO	4	EFO	material property	motion sickness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006928	"sympton caused by motion, as sea sickness, train sickness, car sickness, air sickness, or space motion sickness. It may include nausea, vomiting and dizziness." []	3178800	\N	\N	EFO	5	EFO	experimental factor	motion sickness
EFO:0006929	\N	\N	"the IgG index (or CSF index) is the cerebrospinal fluid (CSF) IgG to CSF albumin ration compared to the serum IgG to serum albumin ratio. It is an indicator of the relative amount IgG in CSF compared to serum" []	EFO:0006929	"the IgG index (or CSF index) is the cerebrospinal fluid (CSF) IgG to CSF albumin ration compared to the serum IgG to serum albumin ratio. It is an indicator of the relative amount IgG in CSF compared to serum" []	68181	\N	\N	EFO	0	EFO	IgG index	IgG index
EFO:0004565	EFO:0006929	\N	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	EFO:0006929	"the IgG index (or CSF index) is the cerebrospinal fluid (CSF) IgG to CSF albumin ration compared to the serum IgG to serum albumin ratio. It is an indicator of the relative amount IgG in CSF compared to serum" []	210229	\N	\N	EFO	1	EFO	serum IgG measurement	IgG index
EFO:0006794	EFO:0006929	\N	"A cerebrospinal fluid biomarker measurement is a quantification in cerebrospinal fluid of some molecule e.g. protein or metabolite that acts as a biomarker for some disease, eg Alzheimer's disease" []	EFO:0006929	"the IgG index (or CSF index) is the cerebrospinal fluid (CSF) IgG to CSF albumin ration compared to the serum IgG to serum albumin ratio. It is an indicator of the relative amount IgG in CSF compared to serum" []	210230	\N	\N	EFO	1	EFO	cerebrospinal fluid biomarker measurement	IgG index
EFO:0004556	EFO:0004565	\N	"Is the quantification of some antibody" []	EFO:0006929	"the IgG index (or CSF index) is the cerebrospinal fluid (CSF) IgG to CSF albumin ration compared to the serum IgG to serum albumin ratio. It is an indicator of the relative amount IgG in CSF compared to serum" []	563431	\N	\N	EFO	2	EFO	antibody measurement	IgG index
EFO:0001444	EFO:0006794	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006929	"the IgG index (or CSF index) is the cerebrospinal fluid (CSF) IgG to CSF albumin ration compared to the serum IgG to serum albumin ratio. It is an indicator of the relative amount IgG in CSF compared to serum" []	563432	\N	\N	EFO	2	EFO	measurement	IgG index
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006929	"the IgG index (or CSF index) is the cerebrospinal fluid (CSF) IgG to CSF albumin ration compared to the serum IgG to serum albumin ratio. It is an indicator of the relative amount IgG in CSF compared to serum" []	1144649	\N	\N	EFO	3	EFO	measurement	IgG index
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006929	"the IgG index (or CSF index) is the cerebrospinal fluid (CSF) IgG to CSF albumin ration compared to the serum IgG to serum albumin ratio. It is an indicator of the relative amount IgG in CSF compared to serum" []	2027238	\N	\N	EFO	4	EFO	information entity	IgG index
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006929	"the IgG index (or CSF index) is the cerebrospinal fluid (CSF) IgG to CSF albumin ration compared to the serum IgG to serum albumin ratio. It is an indicator of the relative amount IgG in CSF compared to serum" []	2999811	\N	\N	EFO	5	EFO	experimental factor	IgG index
EFO:0006930	\N	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0006930	"quantification of the volume of the brain or of a part of the brain" []	68182	\N	\N	EFO	0	EFO	brain volume measurement	brain volume measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0006930	"quantification of the volume of the brain or of a part of the brain" []	210231	\N	\N	EFO	1	EFO	brain measurement	brain volume measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006930	"quantification of the volume of the brain or of a part of the brain" []	563433	\N	\N	EFO	2	EFO	measurement	brain volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006930	"quantification of the volume of the brain or of a part of the brain" []	1144651	\N	\N	EFO	3	EFO	information entity	brain volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006930	"quantification of the volume of the brain or of a part of the brain" []	2027240	\N	\N	EFO	4	EFO	experimental factor	brain volume measurement
EFO:0006931	\N	\N	"quantification of the volume of the nucleus accumbens, a region of the basal forebrain rostral to the preoptic area of the hypothalamus and which together with the olfactory tubercle forms the ventral striatum" []	EFO:0006931	"quantification of the volume of the nucleus accumbens, a region of the basal forebrain rostral to the preoptic area of the hypothalamus and which together with the olfactory tubercle forms the ventral striatum" []	68183	\N	\N	EFO	0	EFO	nucleus accumbens volume	nucleus accumbens volume
EFO:0006930	EFO:0006931	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0006931	"quantification of the volume of the nucleus accumbens, a region of the basal forebrain rostral to the preoptic area of the hypothalamus and which together with the olfactory tubercle forms the ventral striatum" []	210232	\N	\N	EFO	1	EFO	brain volume measurement	nucleus accumbens volume
EFO:0004464	EFO:0006930	\N	"" []	EFO:0006931	"quantification of the volume of the nucleus accumbens, a region of the basal forebrain rostral to the preoptic area of the hypothalamus and which together with the olfactory tubercle forms the ventral striatum" []	563434	\N	\N	EFO	2	EFO	brain measurement	nucleus accumbens volume
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006931	"quantification of the volume of the nucleus accumbens, a region of the basal forebrain rostral to the preoptic area of the hypothalamus and which together with the olfactory tubercle forms the ventral striatum" []	1144652	\N	\N	EFO	3	EFO	measurement	nucleus accumbens volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006931	"quantification of the volume of the nucleus accumbens, a region of the basal forebrain rostral to the preoptic area of the hypothalamus and which together with the olfactory tubercle forms the ventral striatum" []	2027241	\N	\N	EFO	4	EFO	information entity	nucleus accumbens volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006931	"quantification of the volume of the nucleus accumbens, a region of the basal forebrain rostral to the preoptic area of the hypothalamus and which together with the olfactory tubercle forms the ventral striatum" []	3178801	\N	\N	EFO	5	EFO	experimental factor	nucleus accumbens volume
EFO:0006932	\N	\N	"quantification of the volume of the putamen, a round structure located at the base of the forebrain" []	EFO:0006932	"quantification of the volume of the putamen, a round structure located at the base of the forebrain" []	68184	\N	\N	EFO	0	EFO	putamen volume	putamen volume
EFO:0006930	EFO:0006932	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0006932	"quantification of the volume of the putamen, a round structure located at the base of the forebrain" []	210233	\N	\N	EFO	1	EFO	brain volume measurement	putamen volume
EFO:0004464	EFO:0006930	\N	"" []	EFO:0006932	"quantification of the volume of the putamen, a round structure located at the base of the forebrain" []	563435	\N	\N	EFO	2	EFO	brain measurement	putamen volume
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006932	"quantification of the volume of the putamen, a round structure located at the base of the forebrain" []	1144653	\N	\N	EFO	3	EFO	measurement	putamen volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006932	"quantification of the volume of the putamen, a round structure located at the base of the forebrain" []	2027242	\N	\N	EFO	4	EFO	information entity	putamen volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006932	"quantification of the volume of the putamen, a round structure located at the base of the forebrain" []	3178802	\N	\N	EFO	5	EFO	experimental factor	putamen volume
EFO:0006933	\N	\N	"quantification of the volume of the pallidum or globus pallidus, a sub-cortical structure of the brain that is part of the telencephalon" []	EFO:0006933	"quantification of the volume of the pallidum or globus pallidus, a sub-cortical structure of the brain that is part of the telencephalon" []	68185	\N	\N	EFO	0	EFO	pallidum volume	pallidum volume
EFO:0006930	EFO:0006933	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0006933	"quantification of the volume of the pallidum or globus pallidus, a sub-cortical structure of the brain that is part of the telencephalon" []	210234	\N	\N	EFO	1	EFO	brain volume measurement	pallidum volume
EFO:0004464	EFO:0006930	\N	"" []	EFO:0006933	"quantification of the volume of the pallidum or globus pallidus, a sub-cortical structure of the brain that is part of the telencephalon" []	563436	\N	\N	EFO	2	EFO	brain measurement	pallidum volume
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006933	"quantification of the volume of the pallidum or globus pallidus, a sub-cortical structure of the brain that is part of the telencephalon" []	1144654	\N	\N	EFO	3	EFO	measurement	pallidum volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006933	"quantification of the volume of the pallidum or globus pallidus, a sub-cortical structure of the brain that is part of the telencephalon" []	2027243	\N	\N	EFO	4	EFO	information entity	pallidum volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006933	"quantification of the volume of the pallidum or globus pallidus, a sub-cortical structure of the brain that is part of the telencephalon" []	3178803	\N	\N	EFO	5	EFO	experimental factor	pallidum volume
EFO:0006934	\N	\N	"quantification of the volume of the amygdala, an almond-shaped group of nuclei located deep and medially within each temporal lobe of the brain" []	EFO:0006934	"quantification of the volume of the amygdala, an almond-shaped group of nuclei located deep and medially within each temporal lobe of the brain" []	68186	\N	\N	EFO	0	EFO	amygdala volume	amygdala volume
EFO:0006930	EFO:0006934	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0006934	"quantification of the volume of the amygdala, an almond-shaped group of nuclei located deep and medially within each temporal lobe of the brain" []	210235	\N	\N	EFO	1	EFO	brain volume measurement	amygdala volume
EFO:0004464	EFO:0006930	\N	"" []	EFO:0006934	"quantification of the volume of the amygdala, an almond-shaped group of nuclei located deep and medially within each temporal lobe of the brain" []	563437	\N	\N	EFO	2	EFO	brain measurement	amygdala volume
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006934	"quantification of the volume of the amygdala, an almond-shaped group of nuclei located deep and medially within each temporal lobe of the brain" []	1144655	\N	\N	EFO	3	EFO	measurement	amygdala volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006934	"quantification of the volume of the amygdala, an almond-shaped group of nuclei located deep and medially within each temporal lobe of the brain" []	2027244	\N	\N	EFO	4	EFO	information entity	amygdala volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006934	"quantification of the volume of the amygdala, an almond-shaped group of nuclei located deep and medially within each temporal lobe of the brain" []	3178804	\N	\N	EFO	5	EFO	experimental factor	amygdala volume
EFO:0006935	\N	\N	"quantification of the volume of the thalamus, a midline symmetrical structure of two halves, within the vertebrate brain, situated between the cerebral cortex and the midbrain" []	EFO:0006935	"quantification of the volume of the thalamus, a midline symmetrical structure of two halves, within the vertebrate brain, situated between the cerebral cortex and the midbrain" []	68187	\N	\N	EFO	0	EFO	thalamus volume	thalamus volume
EFO:0005052	EFO:0006935	\N	"" []	EFO:0006935	"quantification of the volume of the thalamus, a midline symmetrical structure of two halves, within the vertebrate brain, situated between the cerebral cortex and the midbrain" []	210236	\N	\N	EFO	1	EFO	nervous system measurement	thalamus volume
EFO:0006930	EFO:0006935	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0006935	"quantification of the volume of the thalamus, a midline symmetrical structure of two halves, within the vertebrate brain, situated between the cerebral cortex and the midbrain" []	210237	\N	\N	EFO	1	EFO	brain volume measurement	thalamus volume
EFO:0001444	EFO:0005052	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006935	"quantification of the volume of the thalamus, a midline symmetrical structure of two halves, within the vertebrate brain, situated between the cerebral cortex and the midbrain" []	563438	\N	\N	EFO	2	EFO	measurement	thalamus volume
EFO:0004464	EFO:0006930	\N	"" []	EFO:0006935	"quantification of the volume of the thalamus, a midline symmetrical structure of two halves, within the vertebrate brain, situated between the cerebral cortex and the midbrain" []	563439	\N	\N	EFO	2	EFO	brain measurement	thalamus volume
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006935	"quantification of the volume of the thalamus, a midline symmetrical structure of two halves, within the vertebrate brain, situated between the cerebral cortex and the midbrain" []	2027246	\N	\N	EFO	4	EFO	information entity	thalamus volume
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006935	"quantification of the volume of the thalamus, a midline symmetrical structure of two halves, within the vertebrate brain, situated between the cerebral cortex and the midbrain" []	1144657	\N	\N	EFO	3	EFO	measurement	thalamus volume
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006935	"quantification of the volume of the thalamus, a midline symmetrical structure of two halves, within the vertebrate brain, situated between the cerebral cortex and the midbrain" []	2999812	\N	\N	EFO	5	EFO	experimental factor	thalamus volume
EFO:0006936	\N	\N	"optic nerve head measurement" []	EFO:0006936	"optic nerve head measurement" []	68188	\N	\N	EFO	0	EFO	optic disc measurement	optic disc measurement
EFO:0001444	EFO:0006936	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006936	"optic nerve head measurement" []	210238	\N	\N	EFO	1	EFO	measurement	optic disc measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006936	"optic nerve head measurement" []	563440	\N	\N	EFO	2	EFO	information entity	optic disc measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006936	"optic nerve head measurement" []	1144658	\N	\N	EFO	3	EFO	experimental factor	optic disc measurement
EFO:0006937	\N	\N	"Is a quantification of the area of the optic disc" []	EFO:0006937	"Is a quantification of the area of the optic disc" []	68189	\N	\N	EFO	0	EFO	optic disc area measurement	optic disc area measurement
EFO:0006936	EFO:0006937	\N	"optic nerve head measurement" []	EFO:0006937	"Is a quantification of the area of the optic disc" []	210239	\N	\N	EFO	1	EFO	optic disc measurement	optic disc area measurement
EFO:0001444	EFO:0006936	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006937	"Is a quantification of the area of the optic disc" []	563441	\N	\N	EFO	2	EFO	measurement	optic disc area measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006937	"Is a quantification of the area of the optic disc" []	1144659	\N	\N	EFO	3	EFO	information entity	optic disc area measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006937	"Is a quantification of the area of the optic disc" []	2027247	\N	\N	EFO	4	EFO	experimental factor	optic disc area measurement
EFO:0006938	\N	\N	"Is a quantification of the rim of the optic disc" []	EFO:0006938	"Is a quantification of the rim of the optic disc" []	68190	\N	\N	EFO	0	EFO	optic rim area measurement	optic rim area measurement
EFO:0006936	EFO:0006938	\N	"optic nerve head measurement" []	EFO:0006938	"Is a quantification of the rim of the optic disc" []	210240	\N	\N	EFO	1	EFO	optic disc measurement	optic rim area measurement
EFO:0001444	EFO:0006936	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006938	"Is a quantification of the rim of the optic disc" []	563442	\N	\N	EFO	2	EFO	measurement	optic rim area measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006938	"Is a quantification of the rim of the optic disc" []	1144660	\N	\N	EFO	3	EFO	information entity	optic rim area measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006938	"Is a quantification of the rim of the optic disc" []	2027248	\N	\N	EFO	4	EFO	experimental factor	optic rim area measurement
EFO:0006939	\N	\N	"Is a quantification of the ratio between optic cup and optic disc, used in the diagnosis of glaucoma" []	EFO:0006939	"Is a quantification of the ratio between optic cup and optic disc, used in the diagnosis of glaucoma" []	68191	\N	\N	EFO	0	EFO	cup-to-disc ratio measurement	cup-to-disc ratio measurement
EFO:0006936	EFO:0006939	\N	"optic nerve head measurement" []	EFO:0006939	"Is a quantification of the ratio between optic cup and optic disc, used in the diagnosis of glaucoma" []	210241	\N	\N	EFO	1	EFO	optic disc measurement	cup-to-disc ratio measurement
EFO:0001444	EFO:0006936	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006939	"Is a quantification of the ratio between optic cup and optic disc, used in the diagnosis of glaucoma" []	563443	\N	\N	EFO	2	EFO	measurement	cup-to-disc ratio measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006939	"Is a quantification of the ratio between optic cup and optic disc, used in the diagnosis of glaucoma" []	1144661	\N	\N	EFO	3	EFO	information entity	cup-to-disc ratio measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006939	"Is a quantification of the ratio between optic cup and optic disc, used in the diagnosis of glaucoma" []	2027249	\N	\N	EFO	4	EFO	experimental factor	cup-to-disc ratio measurement
EFO:0006940	\N	\N	"Is a quantification of the area of the optic cup" []	EFO:0006940	"Is a quantification of the area of the optic cup" []	68192	\N	\N	EFO	0	EFO	optic cup area measurement	optic cup area measurement
EFO:0006936	EFO:0006940	\N	"optic nerve head measurement" []	EFO:0006940	"Is a quantification of the area of the optic cup" []	210242	\N	\N	EFO	1	EFO	optic disc measurement	optic cup area measurement
EFO:0001444	EFO:0006936	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006940	"Is a quantification of the area of the optic cup" []	563444	\N	\N	EFO	2	EFO	measurement	optic cup area measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006940	"Is a quantification of the area of the optic cup" []	1144662	\N	\N	EFO	3	EFO	information entity	optic cup area measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006940	"Is a quantification of the area of the optic cup" []	2027250	\N	\N	EFO	4	EFO	experimental factor	optic cup area measurement
EFO:0006941	\N	\N	"quantification of the force applied by the hand to pull on or suspend from objects" []	EFO:0006941	"quantification of the force applied by the hand to pull on or suspend from objects" []	68193	\N	\N	EFO	0	EFO	grip strength measurement	grip strength measurement
EFO:0004302	EFO:0006941	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0006941	"quantification of the force applied by the hand to pull on or suspend from objects" []	210243	\N	\N	EFO	1	EFO	anthropometric measurement	grip strength measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006941	"quantification of the force applied by the hand to pull on or suspend from objects" []	563445	\N	\N	EFO	2	EFO	measurement	grip strength measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006941	"quantification of the force applied by the hand to pull on or suspend from objects" []	1144663	\N	\N	EFO	3	EFO	information entity	grip strength measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006941	"quantification of the force applied by the hand to pull on or suspend from objects" []	2027251	\N	\N	EFO	4	EFO	experimental factor	grip strength measurement
EFO:0006942	\N	\N	"quantification of some aspect of facial pigmentation, such as the number, size or location of pigmentation spots" []	EFO:0006942	"quantification of some aspect of facial pigmentation, such as the number, size or location of pigmentation spots" []	68194	\N	\N	EFO	0	EFO	facial pigmentation measurement	facial pigmentation measurement
EFO:0001444	EFO:0006942	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006942	"quantification of some aspect of facial pigmentation, such as the number, size or location of pigmentation spots" []	210244	\N	\N	EFO	1	EFO	measurement	facial pigmentation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006942	"quantification of some aspect of facial pigmentation, such as the number, size or location of pigmentation spots" []	563446	\N	\N	EFO	2	EFO	information entity	facial pigmentation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006942	"quantification of some aspect of facial pigmentation, such as the number, size or location of pigmentation spots" []	1144664	\N	\N	EFO	3	EFO	experimental factor	facial pigmentation measurement
EFO:0006943	\N	\N	"quantification of any change in an indiviual's blood pressure, for example in response to treatment with a antihypertensive agent" []	EFO:0006943	"quantification of any change in an indiviual's blood pressure, for example in response to treatment with a antihypertensive agent" []	68195	\N	\N	EFO	0	EFO	blood pressure change measurement	blood pressure change measurement
EFO:0001444	EFO:0006943	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006943	"quantification of any change in an indiviual's blood pressure, for example in response to treatment with a antihypertensive agent" []	210245	\N	\N	EFO	1	EFO	measurement	blood pressure change measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006943	"quantification of any change in an indiviual's blood pressure, for example in response to treatment with a antihypertensive agent" []	563447	\N	\N	EFO	2	EFO	information entity	blood pressure change measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006943	"quantification of any change in an indiviual's blood pressure, for example in response to treatment with a antihypertensive agent" []	1144665	\N	\N	EFO	3	EFO	experimental factor	blood pressure change measurement
EFO:0006944	\N	\N	"quantification of any change in an indiviual's systolic blood pressure" []	EFO:0006944	"quantification of any change in an indiviual's systolic blood pressure" []	68196	\N	\N	EFO	0	EFO	systolic blood pressure change measurement	systolic blood pressure change measurement
EFO:0006943	EFO:0006944	\N	"quantification of any change in an indiviual's blood pressure, for example in response to treatment with a antihypertensive agent" []	EFO:0006944	"quantification of any change in an indiviual's systolic blood pressure" []	210246	\N	\N	EFO	1	EFO	blood pressure change measurement	systolic blood pressure change measurement
EFO:0001444	EFO:0006943	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006944	"quantification of any change in an indiviual's systolic blood pressure" []	563448	\N	\N	EFO	2	EFO	measurement	systolic blood pressure change measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006944	"quantification of any change in an indiviual's systolic blood pressure" []	1144666	\N	\N	EFO	3	EFO	information entity	systolic blood pressure change measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006944	"quantification of any change in an indiviual's systolic blood pressure" []	2027252	\N	\N	EFO	4	EFO	experimental factor	systolic blood pressure change measurement
EFO:0006945	\N	\N	"quantification of any change in an indiviual's diastolic blood pressure" []	EFO:0006945	"quantification of any change in an indiviual's diastolic blood pressure" []	68197	\N	\N	EFO	0	EFO	diastolic blood pressure change measurement	diastolic blood pressure change measurement
EFO:0006943	EFO:0006945	\N	"quantification of any change in an indiviual's blood pressure, for example in response to treatment with a antihypertensive agent" []	EFO:0006945	"quantification of any change in an indiviual's diastolic blood pressure" []	210247	\N	\N	EFO	1	EFO	blood pressure change measurement	diastolic blood pressure change measurement
EFO:0001444	EFO:0006943	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006945	"quantification of any change in an indiviual's diastolic blood pressure" []	563449	\N	\N	EFO	2	EFO	measurement	diastolic blood pressure change measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006945	"quantification of any change in an indiviual's diastolic blood pressure" []	1144667	\N	\N	EFO	3	EFO	information entity	diastolic blood pressure change measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006945	"quantification of any change in an indiviual's diastolic blood pressure" []	2027253	\N	\N	EFO	4	EFO	experimental factor	diastolic blood pressure change measurement
EFO:0006946	\N	\N	"quantification of some aspect of behavioural disinhibition, including risky and impulsive behaviours. Behavioural disinhibition can be a marker for certain kinds of mental or behavioural disorders." []	EFO:0006946	"quantification of some aspect of behavioural disinhibition, including risky and impulsive behaviours. Behavioural disinhibition can be a marker for certain kinds of mental or behavioural disorders." []	68198	\N	\N	EFO	0	EFO	behavioural disinhibition measurement	behavioural disinhibition measurement
EFO:0006848	EFO:0006946	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0006946	"quantification of some aspect of behavioural disinhibition, including risky and impulsive behaviours. Behavioural disinhibition can be a marker for certain kinds of mental or behavioural disorders." []	210248	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	behavioural disinhibition measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006946	"quantification of some aspect of behavioural disinhibition, including risky and impulsive behaviours. Behavioural disinhibition can be a marker for certain kinds of mental or behavioural disorders." []	563450	\N	\N	EFO	2	EFO	measurement	behavioural disinhibition measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006946	"quantification of some aspect of behavioural disinhibition, including risky and impulsive behaviours. Behavioural disinhibition can be a marker for certain kinds of mental or behavioural disorders." []	1144668	\N	\N	EFO	3	EFO	information entity	behavioural disinhibition measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006946	"quantification of some aspect of behavioural disinhibition, including risky and impulsive behaviours. Behavioural disinhibition can be a marker for certain kinds of mental or behavioural disorders." []	2027254	\N	\N	EFO	4	EFO	experimental factor	behavioural disinhibition measurement
EFO:0006947	\N	\N	"quantification of an individual's appreciation of red wine" []	EFO:0006947	"quantification of an individual's appreciation of red wine" []	68199	\N	\N	EFO	0	EFO	red wine liking measurement	red wine liking measurement
EFO:0006949	EFO:0006947	\N	"quantification of an individual's appreciation of wine" []	EFO:0006947	"quantification of an individual's appreciation of red wine" []	210249	\N	\N	EFO	1	EFO	wine liking measurement	red wine liking measurement
EFO:0001444	EFO:0006949	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006947	"quantification of an individual's appreciation of red wine" []	563451	\N	\N	EFO	2	EFO	measurement	red wine liking measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006947	"quantification of an individual's appreciation of red wine" []	1144669	\N	\N	EFO	3	EFO	information entity	red wine liking measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006947	"quantification of an individual's appreciation of red wine" []	2027255	\N	\N	EFO	4	EFO	experimental factor	red wine liking measurement
EFO:0006948	\N	\N	"quantification of an individual's appreciation of white wine" []	EFO:0006948	"quantification of an individual's appreciation of white wine" []	68200	\N	\N	EFO	0	EFO	white wine liking measurement	white wine liking measurement
EFO:0006949	EFO:0006948	\N	"quantification of an individual's appreciation of wine" []	EFO:0006948	"quantification of an individual's appreciation of white wine" []	210250	\N	\N	EFO	1	EFO	wine liking measurement	white wine liking measurement
EFO:0001444	EFO:0006949	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006948	"quantification of an individual's appreciation of white wine" []	563452	\N	\N	EFO	2	EFO	measurement	white wine liking measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006948	"quantification of an individual's appreciation of white wine" []	1144670	\N	\N	EFO	3	EFO	information entity	white wine liking measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006948	"quantification of an individual's appreciation of white wine" []	2027256	\N	\N	EFO	4	EFO	experimental factor	white wine liking measurement
EFO:0006949	\N	\N	"quantification of an individual's appreciation of wine" []	EFO:0006949	"quantification of an individual's appreciation of wine" []	68201	\N	\N	EFO	0	EFO	wine liking measurement	wine liking measurement
EFO:0001444	EFO:0006949	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006949	"quantification of an individual's appreciation of wine" []	210251	\N	\N	EFO	1	EFO	measurement	wine liking measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006949	"quantification of an individual's appreciation of wine" []	563453	\N	\N	EFO	2	EFO	information entity	wine liking measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006949	"quantification of an individual's appreciation of wine" []	1144671	\N	\N	EFO	3	EFO	experimental factor	wine liking measurement
EFO:0006950	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vincristine stimulus." []	EFO:0006950	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vincristine stimulus." []	68202	\N	\N	EFO	0	EFO	response to vincristine	response to vincristine
EFO:0005260	EFO:0006950	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antimicrotubule agent stimulus." []	EFO:0006950	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vincristine stimulus." []	210252	\N	\N	EFO	1	EFO	response to antimicrotubule agent	response to vincristine
EFO:0006951	\N	\N	"damage to the ear, specifically the cochlea or auditory nerve as a result of some toxic stimulus, eg from a drug. Ototoxicity can result in hearing loss." []	EFO:0006951	"damage to the ear, specifically the cochlea or auditory nerve as a result of some toxic stimulus, eg from a drug. Ototoxicity can result in hearing loss." []	68203	\N	\N	EFO	0	EFO	ototoxicity	ototoxicity
HP:0000364	\N	\N	"An abnormality of the sensory perception of sound." [HPO:probinson]	EFO:0006951	"damage to the ear, specifically the cochlea or auditory nerve as a result of some toxic stimulus, eg from a drug. Ototoxicity can result in hearing loss." []	194831	\N	\N	EFO	0	EFO	Hearing abnormality	ototoxicity
EFO:0006952	\N	\N	"quantification of some aspect of cytotoxity such as survival time or cell viability" []	EFO:0006952	"quantification of some aspect of cytotoxity such as survival time or cell viability" []	68204	\N	\N	EFO	0	EFO	cytotoxicity measurement	cytotoxicity measurement
EFO:0001444	EFO:0006952	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006952	"quantification of some aspect of cytotoxity such as survival time or cell viability" []	210253	\N	\N	EFO	1	EFO	measurement	cytotoxicity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006952	"quantification of some aspect of cytotoxity such as survival time or cell viability" []	563454	\N	\N	EFO	2	EFO	information entity	cytotoxicity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006952	"quantification of some aspect of cytotoxity such as survival time or cell viability" []	1144672	\N	\N	EFO	3	EFO	experimental factor	cytotoxicity measurement
EFO:0006953	\N	\N	"A reported family history of lung cancer in one or more family members." []	EFO:0006953	"A reported family history of lung cancer in one or more family members." []	68205	\N	\N	EFO	0	EFO	family history of lung cancer	family history of lung cancer
EFO:0000493	EFO:0006953	\N	"Family history is a form of clinicaly history specifically about relevant aspects of genetic preconditions or family member's clinical history." []	EFO:0006953	"A reported family history of lung cancer in one or more family members." []	210254	\N	\N	EFO	1	EFO	family history	family history of lung cancer
EFO:0006841	EFO:0006953	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0006953	"A reported family history of lung cancer in one or more family members." []	210255	\N	\N	EFO	1	EFO	respiratory disease biomarker	family history of lung cancer
EFO:0000352	EFO:0000493	\N	"Is an information entity about the material's (i.e., the patient's) medical record as background information relevant to the experiment." []	EFO:0006953	"A reported family history of lung cancer in one or more family members." []	563455	\N	\N	EFO	2	EFO	clinical history	family history of lung cancer
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006953	"A reported family history of lung cancer in one or more family members." []	563456	\N	\N	EFO	2	EFO	measurement	family history of lung cancer
IAO:0000030	EFO:0000352	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006953	"A reported family history of lung cancer in one or more family members." []	1144673	\N	\N	EFO	3	EFO	information entity	family history of lung cancer
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006953	"A reported family history of lung cancer in one or more family members." []	1144674	\N	\N	EFO	3	EFO	information entity	family history of lung cancer
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006953	"A reported family history of lung cancer in one or more family members." []	2027257	\N	\N	EFO	4	EFO	experimental factor	family history of lung cancer
EFO:0006954	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with triamcinolone acetonide" []	EFO:0006954	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with triamcinolone acetonide" []	68206	\N	\N	EFO	0	EFO	response to triamcinolone acetonide	response to triamcinolone acetonide
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0006954	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with triamcinolone acetonide" []	194832	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to triamcinolone acetonide
EFO:0006955	\N	\N	"quantification of the activity of the von Willebrand factor-cleaving protease ADAMTS13" []	EFO:0006955	"quantification of the activity of the von Willebrand factor-cleaving protease ADAMTS13" []	68207	\N	\N	EFO	0	EFO	ADAMTS13 activity measurement	ADAMTS13 activity measurement
EFO:0004747	EFO:0006955	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0006955	"quantification of the activity of the von Willebrand factor-cleaving protease ADAMTS13" []	210256	\N	\N	EFO	1	EFO	protein measurement	ADAMTS13 activity measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006955	"quantification of the activity of the von Willebrand factor-cleaving protease ADAMTS13" []	563457	\N	\N	EFO	2	EFO	measurement	ADAMTS13 activity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006955	"quantification of the activity of the von Willebrand factor-cleaving protease ADAMTS13" []	1144675	\N	\N	EFO	3	EFO	information entity	ADAMTS13 activity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006955	"quantification of the activity of the von Willebrand factor-cleaving protease ADAMTS13" []	2027258	\N	\N	EFO	4	EFO	experimental factor	ADAMTS13 activity measurement
EFO:0006956	\N	\N	"quantification of the difference in intraocular pressure between two time points" []	EFO:0006956	"quantification of the difference in intraocular pressure between two time points" []	68208	\N	\N	EFO	0	EFO	intraocular pressure change measurement	intraocular pressure change measurement
EFO:0004731	EFO:0006956	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0006956	"quantification of the difference in intraocular pressure between two time points" []	210257	\N	\N	EFO	1	EFO	eye measurement	intraocular pressure change measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006956	"quantification of the difference in intraocular pressure between two time points" []	563458	\N	\N	EFO	2	EFO	measurement	intraocular pressure change measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006956	"quantification of the difference in intraocular pressure between two time points" []	1144676	\N	\N	EFO	3	EFO	information entity	intraocular pressure change measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006956	"quantification of the difference in intraocular pressure between two time points" []	2027259	\N	\N	EFO	4	EFO	experimental factor	intraocular pressure change measurement
EFO:0006957	\N	\N	"quantification of the unknown substance X12063 in blood" []	EFO:0006957	"quantification of the unknown substance X12063 in blood" []	68209	\N	\N	EFO	0	EFO	X12063 measurement	X12063 measurement
EFO:0001444	EFO:0006957	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006957	"quantification of the unknown substance X12063 in blood" []	210258	\N	\N	EFO	1	EFO	measurement	X12063 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006957	"quantification of the unknown substance X12063 in blood" []	563459	\N	\N	EFO	2	EFO	information entity	X12063 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006957	"quantification of the unknown substance X12063 in blood" []	1144677	\N	\N	EFO	3	EFO	experimental factor	X12063 measurement
EFO:0006958	\N	\N	"quantification of mannose in a sample" []	EFO:0006958	"quantification of mannose in a sample" []	68210	\N	\N	EFO	0	EFO	mannose measurement	mannose measurement
EFO:0001444	EFO:0006958	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006958	"quantification of mannose in a sample" []	210259	\N	\N	EFO	1	EFO	measurement	mannose measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006958	"quantification of mannose in a sample" []	563460	\N	\N	EFO	2	EFO	information entity	mannose measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006958	"quantification of mannose in a sample" []	1144678	\N	\N	EFO	3	EFO	experimental factor	mannose measurement
EFO:0006959	\N	\N	"quantification of the amount of DNA methylation in a target gene" []	EFO:0006959	"quantification of the amount of DNA methylation in a target gene" []	68211	\N	\N	EFO	0	EFO	gene methylation measurement	gene methylation measurement
EFO:0001444	EFO:0006959	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006959	"quantification of the amount of DNA methylation in a target gene" []	210260	\N	\N	EFO	1	EFO	measurement	gene methylation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006959	"quantification of the amount of DNA methylation in a target gene" []	563461	\N	\N	EFO	2	EFO	information entity	gene methylation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006959	"quantification of the amount of DNA methylation in a target gene" []	1144679	\N	\N	EFO	3	EFO	experimental factor	gene methylation measurement
EFO:0006960	\N	\N	"Martuba is an Arabidopsis ecotype." []	EFO:0006960	"Martuba is an Arabidopsis ecotype." []	68212	\N	\N	EFO	0	EFO	Martuba ecotype	Martuba ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006960	"Martuba is an Arabidopsis ecotype." []	194833	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Martuba ecotype
EFO:0006961	\N	\N	"An Arabidopsis ecotype." []	EFO:0006961	"An Arabidopsis ecotype." []	68213	\N	\N	EFO	0	EFO	Tossa de Mar ecotype	Tossa de Mar ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006961	"An Arabidopsis ecotype." []	194834	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Tossa de Mar ecotype
EFO:0006962	\N	\N	"An Arabidopsis ecotype." []	EFO:0006962	"An Arabidopsis ecotype." []	68214	\N	\N	EFO	0	EFO	Mt-0	Mt-0
EFO:0006960	EFO:0006962	\N	"Martuba is an Arabidopsis ecotype." []	EFO:0006962	"An Arabidopsis ecotype." []	210261	\N	\N	EFO	1	EFO	Martuba ecotype	Mt-0
EFO:0006963	\N	\N	"An Arabidopsis ecotype." []	EFO:0006963	"An Arabidopsis ecotype." []	68215	\N	\N	EFO	0	EFO	Ts-1	Ts-1
EFO:0006961	EFO:0006963	\N	"An Arabidopsis ecotype." []	EFO:0006963	"An Arabidopsis ecotype." []	210262	\N	\N	EFO	1	EFO	Tossa de Mar ecotype	Ts-1
EFO:0006964	\N	\N	"An Arabidopsis ecotype." []	EFO:0006964	"An Arabidopsis ecotype." []	68216	\N	\N	EFO	0	EFO	Hohenlieth ecotype	Hohenlieth ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006964	"An Arabidopsis ecotype." []	194835	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Hohenlieth ecotype
EFO:0006965	\N	\N	"An Arabidopsis ecotype" []	EFO:0006965	"An Arabidopsis ecotype" []	68217	\N	\N	EFO	0	EFO	Hh-0	Hh-0
EFO:0006964	EFO:0006965	\N	"An Arabidopsis ecotype." []	EFO:0006965	"An Arabidopsis ecotype" []	210263	\N	\N	EFO	1	EFO	Hohenlieth ecotype	Hh-0
EFO:0006966	\N	\N	"An arabidopsis ecotype." []	EFO:0006966	"An arabidopsis ecotype." []	68218	\N	\N	EFO	0	EFO	Kindalville ecotype	Kindalville ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006966	"An arabidopsis ecotype." []	194836	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Kindalville ecotype
EFO:0006967	\N	\N	"An arabidopsis ecotype." []	EFO:0006967	"An arabidopsis ecotype." []	68219	\N	\N	EFO	0	EFO	Kin-0	Kin-0
EFO:0006966	EFO:0006967	\N	"An arabidopsis ecotype." []	EFO:0006967	"An arabidopsis ecotype." []	210264	\N	\N	EFO	1	EFO	Kindalville ecotype	Kin-0
EFO:0006968	\N	\N	"An arabidopsis ecotype." []	EFO:0006968	"An arabidopsis ecotype." []	68220	\N	\N	EFO	0	EFO	Estland ecotype	Estland ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006968	"An arabidopsis ecotype." []	194837	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Estland ecotype
EFO:0006969	\N	\N	"An Arabidopsis ecotype." []	EFO:0006969	"An Arabidopsis ecotype." []	68221	\N	\N	EFO	0	EFO	San Feliu ecotype	San Feliu ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006969	"An Arabidopsis ecotype." []	194838	\N	\N	EFO	0	EFO	Arabidopsis thaliana	San Feliu ecotype
EFO:0006970	\N	\N	"An arabidopsis ecotype." []	EFO:0006970	"An arabidopsis ecotype." []	68222	\N	\N	EFO	0	EFO	Sf-2	Sf-2
EFO:0006969	EFO:0006970	\N	"An Arabidopsis ecotype." []	EFO:0006970	"An arabidopsis ecotype." []	210265	\N	\N	EFO	1	EFO	San Feliu ecotype	Sf-2
EFO:0006971	\N	\N	"An arabidopsis ecotype." []	EFO:0006971	"An arabidopsis ecotype." []	68223	\N	\N	EFO	0	EFO	Poppelsdorf ecotype	Poppelsdorf ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006971	"An arabidopsis ecotype." []	194839	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Poppelsdorf ecotype
EFO:0006972	\N	\N	"An arabidopsis ecotype." []	EFO:0006972	"An arabidopsis ecotype." []	68224	\N	\N	EFO	0	EFO	Po-0	Po-0
EFO:0006971	EFO:0006972	\N	"An arabidopsis ecotype." []	EFO:0006972	"An arabidopsis ecotype." []	210266	\N	\N	EFO	1	EFO	Poppelsdorf ecotype	Po-0
EFO:0006973	\N	\N	"An arabidopsis ecotype." []	EFO:0006973	"An arabidopsis ecotype." []	68225	\N	\N	EFO	0	EFO	Oystese ecotype	Oystese ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006973	"An arabidopsis ecotype." []	194840	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Oystese ecotype
EFO:0006974	\N	\N	"An arabidopsis ecotype." []	EFO:0006974	"An arabidopsis ecotype." []	68226	\N	\N	EFO	0	EFO	Oy-0	Oy-0
EFO:0006973	EFO:0006974	\N	"An arabidopsis ecotype." []	EFO:0006974	"An arabidopsis ecotype." []	210267	\N	\N	EFO	1	EFO	Oystese ecotype	Oy-0
EFO:0006975	\N	\N	"An arabidopsis ecotype." []	EFO:0006975	"An arabidopsis ecotype." []	68227	\N	\N	EFO	0	EFO	Nossen ecotype	Nossen ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006975	"An arabidopsis ecotype." []	194841	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Nossen ecotype
EFO:0006976	\N	\N	"An arabidopsis ecotype." []	EFO:0006976	"An arabidopsis ecotype." []	68228	\N	\N	EFO	0	EFO	No-0	No-0
EFO:0006975	EFO:0006976	\N	"An arabidopsis ecotype." []	EFO:0006976	"An arabidopsis ecotype." []	210268	\N	\N	EFO	1	EFO	Nossen ecotype	No-0
EFO:0006977	\N	\N	"An arabidopsis ecotype." []	EFO:0006977	"An arabidopsis ecotype." []	68229	\N	\N	EFO	0	EFO	Kaunas ecotype	Kaunas ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006977	"An arabidopsis ecotype." []	194842	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Kaunas ecotype
EFO:0006978	\N	\N	"An arabidopsis ecotype." []	EFO:0006978	"An arabidopsis ecotype." []	68230	\N	\N	EFO	0	EFO	Kn-0	Kn-0
EFO:0006977	EFO:0006978	\N	"An arabidopsis ecotype." []	EFO:0006978	"An arabidopsis ecotype." []	210269	\N	\N	EFO	1	EFO	Kaunas ecotype	Kn-0
EFO:0006979	\N	\N	"An Arabidopsis ecotype." []	EFO:0006979	"An Arabidopsis ecotype." []	68231	\N	\N	EFO	0	EFO	Hilversum ecotype	Hilversum ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006979	"An Arabidopsis ecotype." []	194843	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Hilversum ecotype
EFO:0006980	\N	\N	"An arabidopsis ecotype." []	EFO:0006980	"An arabidopsis ecotype." []	68232	\N	\N	EFO	0	EFO	Hi-0	Hi-0
EFO:0006979	EFO:0006980	\N	"An Arabidopsis ecotype." []	EFO:0006980	"An arabidopsis ecotype." []	210270	\N	\N	EFO	1	EFO	Hilversum ecotype	Hi-0
EFO:0006981	\N	\N	"An arabidopsis ecotype." []	EFO:0006981	"An arabidopsis ecotype." []	68233	\N	\N	EFO	0	EFO	Catania ecotype	Catania ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006981	"An arabidopsis ecotype." []	194844	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Catania ecotype
EFO:0006982	\N	\N	"An arabidopsis ecotype." []	EFO:0006982	"An arabidopsis ecotype." []	68234	\N	\N	EFO	0	EFO	Ct-1	Ct-1
EFO:0006981	EFO:0006982	\N	"An arabidopsis ecotype." []	EFO:0006982	"An arabidopsis ecotype." []	210271	\N	\N	EFO	1	EFO	Catania ecotype	Ct-1
EFO:0006983	\N	\N	"An arabidopsis ecotype." []	EFO:0006983	"An arabidopsis ecotype." []	68235	\N	\N	EFO	0	EFO	Antwerpen ecotype	Antwerpen ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006983	"An arabidopsis ecotype." []	194845	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Antwerpen ecotype
EFO:0006984	\N	\N	"An arabidopis ecotype." []	EFO:0006984	"An arabidopis ecotype." []	68236	\N	\N	EFO	0	EFO	An-1	An-1
EFO:0006983	EFO:0006984	\N	"An arabidopsis ecotype." []	EFO:0006984	"An arabidopis ecotype." []	210272	\N	\N	EFO	1	EFO	Antwerpen ecotype	An-1
EFO:0006985	\N	\N	"An arabidopsis ecotype directly descended from Col-1." []	EFO:0006985	"An arabidopsis ecotype directly descended from Col-1." []	68237	\N	\N	EFO	0	EFO	Col-7	Col-7
EFO:0005147	EFO:0006985	\N	"The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative." []	EFO:0006985	"An arabidopsis ecotype directly descended from Col-1." []	210273	\N	\N	EFO	1	EFO	Columbia ecotype	Col-7
EFO:0006986	\N	\N	"An arabidopsis ecotype" []	EFO:0006986	"An arabidopsis ecotype" []	68238	\N	\N	EFO	0	EFO	Est	Est
EFO:0006968	EFO:0006986	\N	"An arabidopsis ecotype." []	EFO:0006986	"An arabidopsis ecotype" []	210274	\N	\N	EFO	1	EFO	Estland ecotype	Est
EFO:0006987	\N	\N	"An arabidopsis ecotype." []	EFO:0006987	"An arabidopsis ecotype." []	68239	\N	\N	EFO	0	EFO	C24 ecotype	C24 ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0006987	"An arabidopsis ecotype." []	194846	\N	\N	EFO	0	EFO	Arabidopsis thaliana	C24 ecotype
EFO:0006988	\N	\N	"Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes." []	EFO:0006988	"Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes." []	68240	\N	\N	EFO	0	EFO	endophenotype	endophenotype
EFO:0000651	EFO:0006988	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0006988	"Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes." []	210275	\N	\N	EFO	1	EFO	phenotype	endophenotype
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0006988	"Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes." []	563462	\N	\N	EFO	2	EFO	quality	endophenotype
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0006988	"Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes." []	1144680	\N	\N	EFO	3	EFO	material property	endophenotype
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006988	"Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes." []	2027260	\N	\N	EFO	4	EFO	experimental factor	endophenotype
EFO:0006992	\N	\N	"short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to biological dust, usually of occupational or environment origin" []	EFO:0006992	"short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to biological dust, usually of occupational or environment origin" []	68241	\N	\N	EFO	0	EFO	response to biological dust exposure	response to biological dust exposure
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0006992	"short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to biological dust, usually of occupational or environment origin" []	194847	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to biological dust exposure
EFO:0006993	\N	\N	"short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to mineral dust, usually of occupational or environment origin" []	EFO:0006993	"short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to mineral dust, usually of occupational or environment origin" []	68242	\N	\N	EFO	0	EFO	response to mineral dust exposure	response to mineral dust exposure
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0006993	"short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to mineral dust, usually of occupational or environment origin" []	194848	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to mineral dust exposure
EFO:0006994	\N	\N	"short or long term physiological response of an organism, eg in terms of deposits of particles in lung tissues, to exposure to gases and fumes, usually of occupational or environment origin" []	EFO:0006994	"short or long term physiological response of an organism, eg in terms of deposits of particles in lung tissues, to exposure to gases and fumes, usually of occupational or environment origin" []	68243	\N	\N	EFO	0	EFO	response to gases and fumes exposure	response to gases and fumes exposure
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0006994	"short or long term physiological response of an organism, eg in terms of deposits of particles in lung tissues, to exposure to gases and fumes, usually of occupational or environment origin" []	194849	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to gases and fumes exposure
EFO:0006995	\N	\N	"short or long term physiological response of an organism, eg in terms of deposits of particles in lung tissues, to exposure to diisocyanate, usually of occupational or environment origin" []	EFO:0006995	"short or long term physiological response of an organism, eg in terms of deposits of particles in lung tissues, to exposure to diisocyanate, usually of occupational or environment origin" []	68244	\N	\N	EFO	0	EFO	response to diisocyanate	response to diisocyanate
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0006995	"short or long term physiological response of an organism, eg in terms of deposits of particles in lung tissues, to exposure to diisocyanate, usually of occupational or environment origin" []	194850	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to diisocyanate
EFO:0006996	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with the antineoplastic drug homoharringtonine, also known as omacetaxine mepesuccinate" []	EFO:0006996	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with the antineoplastic drug homoharringtonine, also known as omacetaxine mepesuccinate" []	68245	\N	\N	EFO	0	EFO	response to homoharringtonine	response to homoharringtonine
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0006996	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with the antineoplastic drug homoharringtonine, also known as omacetaxine mepesuccinate" []	194851	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to homoharringtonine
EFO:0006997	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with any medication intended to treat or relieve symptoms of the common cold" []	EFO:0006997	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with any medication intended to treat or relieve symptoms of the common cold" []	68246	\N	\N	EFO	0	EFO	response to cold medicine	response to cold medicine
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0006997	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with any medication intended to treat or relieve symptoms of the common cold" []	194852	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to cold medicine
EFO:0006998	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with stavudine, a nucleoside analog reverse transcriptase inhibitor used in treatment of HIV/AIDS." []	EFO:0006998	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with stavudine, a nucleoside analog reverse transcriptase inhibitor used in treatment of HIV/AIDS." []	68247	\N	\N	EFO	0	EFO	response to stavudine	response to stavudine
GO:0061479	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reverse transcriptase inhibitor stimulus." [GOC:dph]	EFO:0006998	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with stavudine, a nucleoside analog reverse transcriptase inhibitor used in treatment of HIV/AIDS." []	194853	\N	\N	EFO	0	EFO	response to reverse transcriptase inhibitor	response to stavudine
EFO:0006999	\N	\N	"quantification of the agressiveness of a (usually malignant) cancer" []	EFO:0006999	"quantification of the agressiveness of a (usually malignant) cancer" []	68248	\N	\N	EFO	0	EFO	cancer aggressiveness measurement	cancer aggressiveness measurement
EFO:0001444	EFO:0006999	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0006999	"quantification of the agressiveness of a (usually malignant) cancer" []	210276	\N	\N	EFO	1	EFO	measurement	cancer aggressiveness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0006999	"quantification of the agressiveness of a (usually malignant) cancer" []	563463	\N	\N	EFO	2	EFO	information entity	cancer aggressiveness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0006999	"quantification of the agressiveness of a (usually malignant) cancer" []	1144681	\N	\N	EFO	3	EFO	experimental factor	cancer aggressiveness measurement
EFO:0007000	\N	\N	"Quantification of the cytoarchitecture of a prostate cancer sample, used in the evaluation of cancer prognosis. Cancers with a higher Gleason score are generally more aggressive and have a worse prognosis." []	EFO:0007000	"Quantification of the cytoarchitecture of a prostate cancer sample, used in the evaluation of cancer prognosis. Cancers with a higher Gleason score are generally more aggressive and have a worse prognosis." []	68249	\N	\N	EFO	0	EFO	Gleason score measurement	Gleason score measurement
EFO:0001444	EFO:0007000	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007000	"Quantification of the cytoarchitecture of a prostate cancer sample, used in the evaluation of cancer prognosis. Cancers with a higher Gleason score are generally more aggressive and have a worse prognosis." []	210277	\N	\N	EFO	1	EFO	measurement	Gleason score measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007000	"Quantification of the cytoarchitecture of a prostate cancer sample, used in the evaluation of cancer prognosis. Cancers with a higher Gleason score are generally more aggressive and have a worse prognosis." []	563464	\N	\N	EFO	2	EFO	information entity	Gleason score measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007000	"Quantification of the cytoarchitecture of a prostate cancer sample, used in the evaluation of cancer prognosis. Cancers with a higher Gleason score are generally more aggressive and have a worse prognosis." []	1144682	\N	\N	EFO	3	EFO	experimental factor	Gleason score measurement
EFO:0007001	\N	\N	"Quantification of dehydroepiandrosterone sulfate (DHEA-S) in a sample. DHEA-S is a metabolite of dehydroepiandrosterone (DHEA), the most abundant circulating steroid hormone in humans." []	EFO:0007001	"Quantification of dehydroepiandrosterone sulfate (DHEA-S) in a sample. DHEA-S is a metabolite of dehydroepiandrosterone (DHEA), the most abundant circulating steroid hormone in humans." []	68250	\N	\N	EFO	0	EFO	dehydroepiandrosterone sulphate measurement	dehydroepiandrosterone sulphate measurement
EFO:0004725	EFO:0007001	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0007001	"Quantification of dehydroepiandrosterone sulfate (DHEA-S) in a sample. DHEA-S is a metabolite of dehydroepiandrosterone (DHEA), the most abundant circulating steroid hormone in humans." []	210278	\N	\N	EFO	1	EFO	metabolite measurement	dehydroepiandrosterone sulphate measurement
EFO:0004730	EFO:0007001	\N	"" []	EFO:0007001	"Quantification of dehydroepiandrosterone sulfate (DHEA-S) in a sample. DHEA-S is a metabolite of dehydroepiandrosterone (DHEA), the most abundant circulating steroid hormone in humans." []	210279	\N	\N	EFO	1	EFO	hormone measurement	dehydroepiandrosterone sulphate measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007001	"Quantification of dehydroepiandrosterone sulfate (DHEA-S) in a sample. DHEA-S is a metabolite of dehydroepiandrosterone (DHEA), the most abundant circulating steroid hormone in humans." []	563465	\N	\N	EFO	2	EFO	measurement	dehydroepiandrosterone sulphate measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007001	"Quantification of dehydroepiandrosterone sulfate (DHEA-S) in a sample. DHEA-S is a metabolite of dehydroepiandrosterone (DHEA), the most abundant circulating steroid hormone in humans." []	563466	\N	\N	EFO	2	EFO	measurement	dehydroepiandrosterone sulphate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007001	"Quantification of dehydroepiandrosterone sulfate (DHEA-S) in a sample. DHEA-S is a metabolite of dehydroepiandrosterone (DHEA), the most abundant circulating steroid hormone in humans." []	1144683	\N	\N	EFO	3	EFO	information entity	dehydroepiandrosterone sulphate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007001	"Quantification of dehydroepiandrosterone sulfate (DHEA-S) in a sample. DHEA-S is a metabolite of dehydroepiandrosterone (DHEA), the most abundant circulating steroid hormone in humans." []	2027261	\N	\N	EFO	4	EFO	experimental factor	dehydroepiandrosterone sulphate measurement
EFO:0007002	\N	\N	"Quantification of luteinizing hormone (LH) in a sample. In females, an acute rise of LH (\\"LH surge\\") triggers ovulation and development of the corpus luteum. In males, where LH had also been called interstitial cellstimulating hormone (ICSH), it stimulates Leydig cell production of testosterone. It acts synergistically with FSH." []	EFO:0007002	"Quantification of luteinizing hormone (LH) in a sample. In females, an acute rise of LH (\\"LH surge\\") triggers ovulation and development of the corpus luteum. In males, where LH had also been called interstitial cellstimulating hormone (ICSH), it stimulates Leydig cell production of testosterone. It acts synergistically with FSH." []	68251	\N	\N	EFO	0	EFO	luteinizing hormone measurement	luteinizing hormone measurement
EFO:0004730	EFO:0007002	\N	"" []	EFO:0007002	"Quantification of luteinizing hormone (LH) in a sample. In females, an acute rise of LH (\\"LH surge\\") triggers ovulation and development of the corpus luteum. In males, where LH had also been called interstitial cellstimulating hormone (ICSH), it stimulates Leydig cell production of testosterone. It acts synergistically with FSH." []	210280	\N	\N	EFO	1	EFO	hormone measurement	luteinizing hormone measurement
EFO:0004747	EFO:0007002	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007002	"Quantification of luteinizing hormone (LH) in a sample. In females, an acute rise of LH (\\"LH surge\\") triggers ovulation and development of the corpus luteum. In males, where LH had also been called interstitial cellstimulating hormone (ICSH), it stimulates Leydig cell production of testosterone. It acts synergistically with FSH." []	210281	\N	\N	EFO	1	EFO	protein measurement	luteinizing hormone measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007002	"Quantification of luteinizing hormone (LH) in a sample. In females, an acute rise of LH (\\"LH surge\\") triggers ovulation and development of the corpus luteum. In males, where LH had also been called interstitial cellstimulating hormone (ICSH), it stimulates Leydig cell production of testosterone. It acts synergistically with FSH." []	563467	\N	\N	EFO	2	EFO	measurement	luteinizing hormone measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007002	"Quantification of luteinizing hormone (LH) in a sample. In females, an acute rise of LH (\\"LH surge\\") triggers ovulation and development of the corpus luteum. In males, where LH had also been called interstitial cellstimulating hormone (ICSH), it stimulates Leydig cell production of testosterone. It acts synergistically with FSH." []	563468	\N	\N	EFO	2	EFO	measurement	luteinizing hormone measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007002	"Quantification of luteinizing hormone (LH) in a sample. In females, an acute rise of LH (\\"LH surge\\") triggers ovulation and development of the corpus luteum. In males, where LH had also been called interstitial cellstimulating hormone (ICSH), it stimulates Leydig cell production of testosterone. It acts synergistically with FSH." []	1144684	\N	\N	EFO	3	EFO	information entity	luteinizing hormone measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007002	"Quantification of luteinizing hormone (LH) in a sample. In females, an acute rise of LH (\\"LH surge\\") triggers ovulation and development of the corpus luteum. In males, where LH had also been called interstitial cellstimulating hormone (ICSH), it stimulates Leydig cell production of testosterone. It acts synergistically with FSH." []	2027262	\N	\N	EFO	4	EFO	experimental factor	luteinizing hormone measurement
EFO:0007003	\N	\N	"quantification of prolactin in a sample" []	EFO:0007003	"quantification of prolactin in a sample" []	68252	\N	\N	EFO	0	EFO	prolactin measurement	prolactin measurement
EFO:0004730	EFO:0007003	\N	"" []	EFO:0007003	"quantification of prolactin in a sample" []	210282	\N	\N	EFO	1	EFO	hormone measurement	prolactin measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007003	"quantification of prolactin in a sample" []	563469	\N	\N	EFO	2	EFO	measurement	prolactin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007003	"quantification of prolactin in a sample" []	1144685	\N	\N	EFO	3	EFO	information entity	prolactin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007003	"quantification of prolactin in a sample" []	2027263	\N	\N	EFO	4	EFO	experimental factor	prolactin measurement
EFO:0007004	\N	\N	"quantification of progesterone in a sample" []	EFO:0007004	"quantification of progesterone in a sample" []	68253	\N	\N	EFO	0	EFO	progesterone measurement	progesterone measurement
EFO:0004730	EFO:0007004	\N	"" []	EFO:0007004	"quantification of progesterone in a sample" []	210283	\N	\N	EFO	1	EFO	hormone measurement	progesterone measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007004	"quantification of progesterone in a sample" []	563470	\N	\N	EFO	2	EFO	measurement	progesterone measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007004	"quantification of progesterone in a sample" []	1144686	\N	\N	EFO	3	EFO	information entity	progesterone measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007004	"quantification of progesterone in a sample" []	2027264	\N	\N	EFO	4	EFO	experimental factor	progesterone measurement
EFO:0007005	\N	\N	"Quantification of abnormal androgen status in humans, calculated as the ratio of the total level of testosterone divided by the SHBG level, multiplied by a constant (usually 100) " []	EFO:0007005	"Quantification of abnormal androgen status in humans, calculated as the ratio of the total level of testosterone divided by the SHBG level, multiplied by a constant (usually 100) " []	68254	\N	\N	EFO	0	EFO	free androgen index	free androgen index
EFO:0004730	EFO:0007005	\N	"" []	EFO:0007005	"Quantification of abnormal androgen status in humans, calculated as the ratio of the total level of testosterone divided by the SHBG level, multiplied by a constant (usually 100) " []	210284	\N	\N	EFO	1	EFO	hormone measurement	free androgen index
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007005	"Quantification of abnormal androgen status in humans, calculated as the ratio of the total level of testosterone divided by the SHBG level, multiplied by a constant (usually 100) " []	563471	\N	\N	EFO	2	EFO	measurement	free androgen index
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007005	"Quantification of abnormal androgen status in humans, calculated as the ratio of the total level of testosterone divided by the SHBG level, multiplied by a constant (usually 100) " []	1144687	\N	\N	EFO	3	EFO	information entity	free androgen index
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007005	"Quantification of abnormal androgen status in humans, calculated as the ratio of the total level of testosterone divided by the SHBG level, multiplied by a constant (usually 100) " []	2027265	\N	\N	EFO	4	EFO	experimental factor	free androgen index
EFO:0007006	\N	\N	"quantification of the existence and severity of depressive symptoms, usually via a questionnaire such as the Center for Epidemiological Studies Depression Scale (CES-D) " []	EFO:0007006	"quantification of the existence and severity of depressive symptoms, usually via a questionnaire such as the Center for Epidemiological Studies Depression Scale (CES-D) " []	68255	\N	\N	EFO	0	EFO	depressive symptom measurement	depressive symptom measurement
EFO:0006848	EFO:0007006	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007006	"quantification of the existence and severity of depressive symptoms, usually via a questionnaire such as the Center for Epidemiological Studies Depression Scale (CES-D) " []	210285	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	depressive symptom measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007006	"quantification of the existence and severity of depressive symptoms, usually via a questionnaire such as the Center for Epidemiological Studies Depression Scale (CES-D) " []	563472	\N	\N	EFO	2	EFO	measurement	depressive symptom measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007006	"quantification of the existence and severity of depressive symptoms, usually via a questionnaire such as the Center for Epidemiological Studies Depression Scale (CES-D) " []	1144688	\N	\N	EFO	3	EFO	information entity	depressive symptom measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007006	"quantification of the existence and severity of depressive symptoms, usually via a questionnaire such as the Center for Epidemiological Studies Depression Scale (CES-D) " []	2027266	\N	\N	EFO	4	EFO	experimental factor	depressive symptom measurement
EFO:0007007	\N	\N	"Quantification of the amount of ticagrelor in a sample. Ticagrelor is a platelet aggregation inhibitor used for the prevention of thrombotic events in people with acute coronary syndrome or myocardial infarction with ST elevation." []	EFO:0007007	"Quantification of the amount of ticagrelor in a sample. Ticagrelor is a platelet aggregation inhibitor used for the prevention of thrombotic events in people with acute coronary syndrome or myocardial infarction with ST elevation." []	68256	\N	\N	EFO	0	EFO	ticagrelor measurement	ticagrelor measurement
EFO:0001444	EFO:0007007	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007007	"Quantification of the amount of ticagrelor in a sample. Ticagrelor is a platelet aggregation inhibitor used for the prevention of thrombotic events in people with acute coronary syndrome or myocardial infarction with ST elevation." []	210286	\N	\N	EFO	1	EFO	measurement	ticagrelor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007007	"Quantification of the amount of ticagrelor in a sample. Ticagrelor is a platelet aggregation inhibitor used for the prevention of thrombotic events in people with acute coronary syndrome or myocardial infarction with ST elevation." []	563473	\N	\N	EFO	2	EFO	information entity	ticagrelor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007007	"Quantification of the amount of ticagrelor in a sample. Ticagrelor is a platelet aggregation inhibitor used for the prevention of thrombotic events in people with acute coronary syndrome or myocardial infarction with ST elevation." []	1144689	\N	\N	EFO	3	EFO	experimental factor	ticagrelor measurement
EFO:0007008	\N	\N	"quantification of some aspect of an allergy, for example whether an allergy is present or its severity. Allergies are commonly quantified through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	EFO:0007008	"quantification of some aspect of an allergy, for example whether an allergy is present or its severity. Allergies are commonly quantified through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	68257	\N	\N	EFO	0	EFO	allergy measurement	allergy measurement
EFO:0001444	EFO:0007008	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007008	"quantification of some aspect of an allergy, for example whether an allergy is present or its severity. Allergies are commonly quantified through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	210287	\N	\N	EFO	1	EFO	measurement	allergy measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007008	"quantification of some aspect of an allergy, for example whether an allergy is present or its severity. Allergies are commonly quantified through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	563474	\N	\N	EFO	2	EFO	information entity	allergy measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007008	"quantification of some aspect of an allergy, for example whether an allergy is present or its severity. Allergies are commonly quantified through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	1144690	\N	\N	EFO	3	EFO	experimental factor	allergy measurement
EFO:0007009	\N	\N	"quantification of some aspect of skin pigmentation, such as saturation, darkness or skin sensitivity to sun" []	EFO:0007009	"quantification of some aspect of skin pigmentation, such as saturation, darkness or skin sensitivity to sun" []	68258	\N	\N	EFO	0	EFO	skin pigmentation measurement	skin pigmentation measurement
EFO:0001444	EFO:0007009	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007009	"quantification of some aspect of skin pigmentation, such as saturation, darkness or skin sensitivity to sun" []	210288	\N	\N	EFO	1	EFO	measurement	skin pigmentation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007009	"quantification of some aspect of skin pigmentation, such as saturation, darkness or skin sensitivity to sun" []	563475	\N	\N	EFO	2	EFO	information entity	skin pigmentation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007009	"quantification of some aspect of skin pigmentation, such as saturation, darkness or skin sensitivity to sun" []	1144691	\N	\N	EFO	3	EFO	experimental factor	skin pigmentation measurement
EFO:0007010	\N	\N	"quantification of some aspect of drug use, such as whether drug use occured, over what period of time it occured and what dosage was used" []	EFO:0007010	"quantification of some aspect of drug use, such as whether drug use occured, over what period of time it occured and what dosage was used" []	68259	\N	\N	EFO	0	EFO	drug use measurement	drug use measurement
EFO:0001444	EFO:0007010	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007010	"quantification of some aspect of drug use, such as whether drug use occured, over what period of time it occured and what dosage was used" []	210289	\N	\N	EFO	1	EFO	measurement	drug use measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007010	"quantification of some aspect of drug use, such as whether drug use occured, over what period of time it occured and what dosage was used" []	563476	\N	\N	EFO	2	EFO	information entity	drug use measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007010	"quantification of some aspect of drug use, such as whether drug use occured, over what period of time it occured and what dosage was used" []	1144692	\N	\N	EFO	3	EFO	experimental factor	drug use measurement
EFO:0007011	\N	\N	"quantification of some aspect of SSRI use" []	EFO:0007011	"quantification of some aspect of SSRI use" []	68260	\N	\N	EFO	0	EFO	SSRI use measurement	SSRI use measurement
EFO:0007010	EFO:0007011	\N	"quantification of some aspect of drug use, such as whether drug use occured, over what period of time it occured and what dosage was used" []	EFO:0007011	"quantification of some aspect of SSRI use" []	210290	\N	\N	EFO	1	EFO	drug use measurement	SSRI use measurement
EFO:0001444	EFO:0007010	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007011	"quantification of some aspect of SSRI use" []	563477	\N	\N	EFO	2	EFO	measurement	SSRI use measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007011	"quantification of some aspect of SSRI use" []	1144693	\N	\N	EFO	3	EFO	information entity	SSRI use measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007011	"quantification of some aspect of SSRI use" []	2027267	\N	\N	EFO	4	EFO	experimental factor	SSRI use measurement
EFO:0007012	\N	\N	"quantification of some aspect of NSAID use" []	EFO:0007012	"quantification of some aspect of NSAID use" []	68261	\N	\N	EFO	0	EFO	NSAID use measurement	NSAID use measurement
EFO:0007010	EFO:0007012	\N	"quantification of some aspect of drug use, such as whether drug use occured, over what period of time it occured and what dosage was used" []	EFO:0007012	"quantification of some aspect of NSAID use" []	210291	\N	\N	EFO	1	EFO	drug use measurement	NSAID use measurement
EFO:0001444	EFO:0007010	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007012	"quantification of some aspect of NSAID use" []	563478	\N	\N	EFO	2	EFO	measurement	NSAID use measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007012	"quantification of some aspect of NSAID use" []	1144694	\N	\N	EFO	3	EFO	information entity	NSAID use measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007012	"quantification of some aspect of NSAID use" []	2027268	\N	\N	EFO	4	EFO	experimental factor	NSAID use measurement
EFO:0007013	\N	\N	"quantification of some aspect of aspirin use" []	EFO:0007013	"quantification of some aspect of aspirin use" []	68262	\N	\N	EFO	0	EFO	aspirin use measurement	aspirin use measurement
EFO:0007012	EFO:0007013	\N	"quantification of some aspect of NSAID use" []	EFO:0007013	"quantification of some aspect of aspirin use" []	210292	\N	\N	EFO	1	EFO	NSAID use measurement	aspirin use measurement
EFO:0007010	EFO:0007012	\N	"quantification of some aspect of drug use, such as whether drug use occured, over what period of time it occured and what dosage was used" []	EFO:0007013	"quantification of some aspect of aspirin use" []	563479	\N	\N	EFO	2	EFO	drug use measurement	aspirin use measurement
EFO:0001444	EFO:0007010	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007013	"quantification of some aspect of aspirin use" []	1144695	\N	\N	EFO	3	EFO	measurement	aspirin use measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007013	"quantification of some aspect of aspirin use" []	2027269	\N	\N	EFO	4	EFO	information entity	aspirin use measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007013	"quantification of some aspect of aspirin use" []	3178805	\N	\N	EFO	5	EFO	experimental factor	aspirin use measurement
EFO:0007014	\N	\N	"quantification in a urine sample of 3-hydroxypropylmercapturic acid, one of the main metabolites of acrolein, an important constituent of cigarette smoke with well documented toxic effects" []	EFO:0007014	"quantification in a urine sample of 3-hydroxypropylmercapturic acid, one of the main metabolites of acrolein, an important constituent of cigarette smoke with well documented toxic effects" []	68263	\N	\N	EFO	0	EFO	3-hydroxypropylmercapturic acid measurement	3-hydroxypropylmercapturic acid measurement
EFO:0005116	EFO:0007014	\N	"quantification of some metabolite in urine" []	EFO:0007014	"quantification in a urine sample of 3-hydroxypropylmercapturic acid, one of the main metabolites of acrolein, an important constituent of cigarette smoke with well documented toxic effects" []	210293	\N	\N	EFO	1	EFO	urinary metabolite measurement	3-hydroxypropylmercapturic acid measurement
EFO:0004725	EFO:0005116	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0007014	"quantification in a urine sample of 3-hydroxypropylmercapturic acid, one of the main metabolites of acrolein, an important constituent of cigarette smoke with well documented toxic effects" []	563480	\N	\N	EFO	2	EFO	metabolite measurement	3-hydroxypropylmercapturic acid measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007014	"quantification in a urine sample of 3-hydroxypropylmercapturic acid, one of the main metabolites of acrolein, an important constituent of cigarette smoke with well documented toxic effects" []	1144696	\N	\N	EFO	3	EFO	measurement	3-hydroxypropylmercapturic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007014	"quantification in a urine sample of 3-hydroxypropylmercapturic acid, one of the main metabolites of acrolein, an important constituent of cigarette smoke with well documented toxic effects" []	2027270	\N	\N	EFO	4	EFO	information entity	3-hydroxypropylmercapturic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007014	"quantification in a urine sample of 3-hydroxypropylmercapturic acid, one of the main metabolites of acrolein, an important constituent of cigarette smoke with well documented toxic effects" []	3178806	\N	\N	EFO	5	EFO	experimental factor	3-hydroxypropylmercapturic acid measurement
EFO:0007015	\N	\N	"quantification in a urine sample of 3-hydroxy-1-methylpropylmercapturic acid, one of the main metabolites of crotonaldehyde, an important constituent of cigarette smoke with well documented toxic effects" []	EFO:0007015	"quantification in a urine sample of 3-hydroxy-1-methylpropylmercapturic acid, one of the main metabolites of crotonaldehyde, an important constituent of cigarette smoke with well documented toxic effects" []	68264	\N	\N	EFO	0	EFO	3-hydroxy-1-methylpropylmercapturic acid measurement	3-hydroxy-1-methylpropylmercapturic acid measurement
EFO:0005116	EFO:0007015	\N	"quantification of some metabolite in urine" []	EFO:0007015	"quantification in a urine sample of 3-hydroxy-1-methylpropylmercapturic acid, one of the main metabolites of crotonaldehyde, an important constituent of cigarette smoke with well documented toxic effects" []	210294	\N	\N	EFO	1	EFO	urinary metabolite measurement	3-hydroxy-1-methylpropylmercapturic acid measurement
EFO:0004725	EFO:0005116	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0007015	"quantification in a urine sample of 3-hydroxy-1-methylpropylmercapturic acid, one of the main metabolites of crotonaldehyde, an important constituent of cigarette smoke with well documented toxic effects" []	563481	\N	\N	EFO	2	EFO	metabolite measurement	3-hydroxy-1-methylpropylmercapturic acid measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007015	"quantification in a urine sample of 3-hydroxy-1-methylpropylmercapturic acid, one of the main metabolites of crotonaldehyde, an important constituent of cigarette smoke with well documented toxic effects" []	1144697	\N	\N	EFO	3	EFO	measurement	3-hydroxy-1-methylpropylmercapturic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007015	"quantification in a urine sample of 3-hydroxy-1-methylpropylmercapturic acid, one of the main metabolites of crotonaldehyde, an important constituent of cigarette smoke with well documented toxic effects" []	2027271	\N	\N	EFO	4	EFO	information entity	3-hydroxy-1-methylpropylmercapturic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007015	"quantification in a urine sample of 3-hydroxy-1-methylpropylmercapturic acid, one of the main metabolites of crotonaldehyde, an important constituent of cigarette smoke with well documented toxic effects" []	3178807	\N	\N	EFO	5	EFO	experimental factor	3-hydroxy-1-methylpropylmercapturic acid measurement
EFO:0007016	\N	\N	"quantification of the presence or severity of an allergy to some food" []	EFO:0007016	"quantification of the presence or severity of an allergy to some food" []	68265	\N	\N	EFO	0	EFO	food allergy measurement	food allergy measurement
EFO:0007008	EFO:0007016	\N	"quantification of some aspect of an allergy, for example whether an allergy is present or its severity. Allergies are commonly quantified through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	EFO:0007016	"quantification of the presence or severity of an allergy to some food" []	210295	\N	\N	EFO	1	EFO	allergy measurement	food allergy measurement
EFO:0001444	EFO:0007008	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007016	"quantification of the presence or severity of an allergy to some food" []	563482	\N	\N	EFO	2	EFO	measurement	food allergy measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007016	"quantification of the presence or severity of an allergy to some food" []	1144698	\N	\N	EFO	3	EFO	information entity	food allergy measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007016	"quantification of the presence or severity of an allergy to some food" []	2027272	\N	\N	EFO	4	EFO	experimental factor	food allergy measurement
EFO:0007017	\N	\N	"quantification of the presence or severity of an allergy to peanuts" []	EFO:0007017	"quantification of the presence or severity of an allergy to peanuts" []	68266	\N	\N	EFO	0	EFO	peanut allergy measurement	peanut allergy measurement
EFO:0007016	EFO:0007017	\N	"quantification of the presence or severity of an allergy to some food" []	EFO:0007017	"quantification of the presence or severity of an allergy to peanuts" []	210296	\N	\N	EFO	1	EFO	food allergy measurement	peanut allergy measurement
EFO:0007008	EFO:0007016	\N	"quantification of some aspect of an allergy, for example whether an allergy is present or its severity. Allergies are commonly quantified through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	EFO:0007017	"quantification of the presence or severity of an allergy to peanuts" []	563483	\N	\N	EFO	2	EFO	allergy measurement	peanut allergy measurement
EFO:0001444	EFO:0007008	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007017	"quantification of the presence or severity of an allergy to peanuts" []	1144699	\N	\N	EFO	3	EFO	measurement	peanut allergy measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007017	"quantification of the presence or severity of an allergy to peanuts" []	2027273	\N	\N	EFO	4	EFO	information entity	peanut allergy measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007017	"quantification of the presence or severity of an allergy to peanuts" []	3178808	\N	\N	EFO	5	EFO	experimental factor	peanut allergy measurement
EFO:0007018	\N	\N	"quantification of the presence or severity of an allergy to eggs" []	EFO:0007018	"quantification of the presence or severity of an allergy to eggs" []	68267	\N	\N	EFO	0	EFO	egg allergy measurement	egg allergy measurement
EFO:0007016	EFO:0007018	\N	"quantification of the presence or severity of an allergy to some food" []	EFO:0007018	"quantification of the presence or severity of an allergy to eggs" []	210297	\N	\N	EFO	1	EFO	food allergy measurement	egg allergy measurement
EFO:0007008	EFO:0007016	\N	"quantification of some aspect of an allergy, for example whether an allergy is present or its severity. Allergies are commonly quantified through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	EFO:0007018	"quantification of the presence or severity of an allergy to eggs" []	563484	\N	\N	EFO	2	EFO	allergy measurement	egg allergy measurement
EFO:0001444	EFO:0007008	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007018	"quantification of the presence or severity of an allergy to eggs" []	1144700	\N	\N	EFO	3	EFO	measurement	egg allergy measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007018	"quantification of the presence or severity of an allergy to eggs" []	2027274	\N	\N	EFO	4	EFO	information entity	egg allergy measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007018	"quantification of the presence or severity of an allergy to eggs" []	3178809	\N	\N	EFO	5	EFO	experimental factor	egg allergy measurement
EFO:0007019	\N	\N	"quantification of the presence or severity of an allergy to milk or other dairy products" []	EFO:0007019	"quantification of the presence or severity of an allergy to milk or other dairy products" []	68268	\N	\N	EFO	0	EFO	milk allergy measurement	milk allergy measurement
EFO:0007016	EFO:0007019	\N	"quantification of the presence or severity of an allergy to some food" []	EFO:0007019	"quantification of the presence or severity of an allergy to milk or other dairy products" []	210298	\N	\N	EFO	1	EFO	food allergy measurement	milk allergy measurement
EFO:0007008	EFO:0007016	\N	"quantification of some aspect of an allergy, for example whether an allergy is present or its severity. Allergies are commonly quantified through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)" []	EFO:0007019	"quantification of the presence or severity of an allergy to milk or other dairy products" []	563485	\N	\N	EFO	2	EFO	allergy measurement	milk allergy measurement
EFO:0001444	EFO:0007008	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007019	"quantification of the presence or severity of an allergy to milk or other dairy products" []	1144701	\N	\N	EFO	3	EFO	measurement	milk allergy measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007019	"quantification of the presence or severity of an allergy to milk or other dairy products" []	2027275	\N	\N	EFO	4	EFO	information entity	milk allergy measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007019	"quantification of the presence or severity of an allergy to milk or other dairy products" []	3178810	\N	\N	EFO	5	EFO	experimental factor	milk allergy measurement
EFO:0007020	\N	\N	"Quantification of the amount of AR-C124910XX in a sample. AR-C124910XX is the active metabolite of ticagrelor formed by O-deethylation." []	EFO:0007020	"Quantification of the amount of AR-C124910XX in a sample. AR-C124910XX is the active metabolite of ticagrelor formed by O-deethylation." []	68269	\N	\N	EFO	0	EFO	AR-C124910XXmeasurement	AR-C124910XXmeasurement
EFO:0004725	EFO:0007020	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0007020	"Quantification of the amount of AR-C124910XX in a sample. AR-C124910XX is the active metabolite of ticagrelor formed by O-deethylation." []	210299	\N	\N	EFO	1	EFO	metabolite measurement	AR-C124910XXmeasurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007020	"Quantification of the amount of AR-C124910XX in a sample. AR-C124910XX is the active metabolite of ticagrelor formed by O-deethylation." []	563486	\N	\N	EFO	2	EFO	measurement	AR-C124910XXmeasurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007020	"Quantification of the amount of AR-C124910XX in a sample. AR-C124910XX is the active metabolite of ticagrelor formed by O-deethylation." []	1144702	\N	\N	EFO	3	EFO	information entity	AR-C124910XXmeasurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007020	"Quantification of the amount of AR-C124910XX in a sample. AR-C124910XX is the active metabolite of ticagrelor formed by O-deethylation." []	2027276	\N	\N	EFO	4	EFO	experimental factor	AR-C124910XXmeasurement
EFO:0007021	\N	\N	"quantification of the amount and location of Lewy bodies in a brain biopsy sample" []	EFO:0007021	"quantification of the amount and location of Lewy bodies in a brain biopsy sample" []	68270	\N	\N	EFO	0	EFO	Lewy body measurement	Lewy body measurement
EFO:0004464	EFO:0007021	\N	"" []	EFO:0007021	"quantification of the amount and location of Lewy bodies in a brain biopsy sample" []	210300	\N	\N	EFO	1	EFO	brain measurement	Lewy body measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007021	"quantification of the amount and location of Lewy bodies in a brain biopsy sample" []	563487	\N	\N	EFO	2	EFO	measurement	Lewy body measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007021	"quantification of the amount and location of Lewy bodies in a brain biopsy sample" []	1144703	\N	\N	EFO	3	EFO	information entity	Lewy body measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007021	"quantification of the amount and location of Lewy bodies in a brain biopsy sample" []	2027277	\N	\N	EFO	4	EFO	experimental factor	Lewy body measurement
EFO:0007022	\N	\N	"B73 is a maize inbred line. The complete genome sequence of Zea mays cv. B73 (RefGen_v1) was published in 2009 by the NSF-funded Maize Genome Sequencing Project (Schnable et al, 2009)." []	EFO:0007022	"B73 is a maize inbred line. The complete genome sequence of Zea mays cv. B73 (RefGen_v1) was published in 2009 by the NSF-funded Maize Genome Sequencing Project (Schnable et al, 2009)." []	68271	\N	\N	EFO	0	EFO	Zea mays cv. B73	Zea mays cv. B73
NCBITaxon:4577	\N	\N	"" []	EFO:0007022	"B73 is a maize inbred line. The complete genome sequence of Zea mays cv. B73 (RefGen_v1) was published in 2009 by the NSF-funded Maize Genome Sequencing Project (Schnable et al, 2009)." []	194854	\N	\N	EFO	0	EFO	Zea mays	Zea mays cv. B73
EFO:0007023	\N	\N	"Williams 82 is the soybean cultivar used to produce the reference genome sequence. It was derived from backcrossing a Phytophthora root rot resistance locus from the donor parent Kingwa into the recurrent parent Williams (PMID: 21115807)" []	EFO:0007023	"Williams 82 is the soybean cultivar used to produce the reference genome sequence. It was derived from backcrossing a Phytophthora root rot resistance locus from the donor parent Kingwa into the recurrent parent Williams (PMID: 21115807)" []	68272	\N	\N	EFO	0	EFO	Glycine max cv. Williams 82.	Glycine max cv. Williams 82.
NCBITaxon:3847	\N	\N	"" []	EFO:0007023	"Williams 82 is the soybean cultivar used to produce the reference genome sequence. It was derived from backcrossing a Phytophthora root rot resistance locus from the donor parent Kingwa into the recurrent parent Williams (PMID: 21115807)" []	194855	\N	\N	EFO	0	EFO	Glycine max	Glycine max cv. Williams 82.
EFO:0007024	\N	\N	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	EFO:0007024	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	68273	\N	\N	EFO	0	EFO	yeast media	yeast media
EFO:0000579	EFO:0007024	\N	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	EFO:0007024	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	210301	\N	\N	EFO	1	EFO	media	yeast media
EFO:0000523	EFO:0000579	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0007024	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	563488	\N	\N	EFO	2	EFO	growth condition	yeast media
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0007024	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	1144704	\N	\N	EFO	3	EFO	biological role	yeast media
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0007024	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	2027278	\N	\N	EFO	4	EFO	role	yeast media
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007024	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	3178811	\N	\N	EFO	5	EFO	material property	yeast media
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007024	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	4388411	\N	\N	EFO	6	EFO	experimental factor	yeast media
EFO:0007025	\N	\N	"A complex media used for routine yeast growth. It contains yeast extract, peptone, glucose and distilled water. It can be used as a solid medium with the incusion of agar." []	EFO:0007025	"A complex media used for routine yeast growth. It contains yeast extract, peptone, glucose and distilled water. It can be used as a solid medium with the incusion of agar." []	68274	\N	\N	EFO	0	EFO	YEPD	YEPD
EFO:0007024	EFO:0007025	\N	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	EFO:0007025	"A complex media used for routine yeast growth. It contains yeast extract, peptone, glucose and distilled water. It can be used as a solid medium with the incusion of agar." []	210302	\N	\N	EFO	1	EFO	yeast media	YEPD
EFO:0000579	EFO:0007024	\N	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	EFO:0007025	"A complex media used for routine yeast growth. It contains yeast extract, peptone, glucose and distilled water. It can be used as a solid medium with the incusion of agar." []	563489	\N	\N	EFO	2	EFO	media	YEPD
EFO:0000523	EFO:0000579	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0007025	"A complex media used for routine yeast growth. It contains yeast extract, peptone, glucose and distilled water. It can be used as a solid medium with the incusion of agar." []	1144705	\N	\N	EFO	3	EFO	growth condition	YEPD
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0007025	"A complex media used for routine yeast growth. It contains yeast extract, peptone, glucose and distilled water. It can be used as a solid medium with the incusion of agar." []	2027279	\N	\N	EFO	4	EFO	biological role	YEPD
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0007025	"A complex media used for routine yeast growth. It contains yeast extract, peptone, glucose and distilled water. It can be used as a solid medium with the incusion of agar." []	3178812	\N	\N	EFO	5	EFO	role	YEPD
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007025	"A complex media used for routine yeast growth. It contains yeast extract, peptone, glucose and distilled water. It can be used as a solid medium with the incusion of agar." []	4388412	\N	\N	EFO	6	EFO	material property	YEPD
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007025	"A complex media used for routine yeast growth. It contains yeast extract, peptone, glucose and distilled water. It can be used as a solid medium with the incusion of agar." []	5408884	\N	\N	EFO	7	EFO	experimental factor	YEPD
EFO:0007026	\N	\N	"A complex media containing a non-fermentable carbon source (glycerol), that requires respiration competence for yeast growth. It contains yeast extract, peptone, glycerol and distilled water. It can be used as a solid medium with the incusion of agar." []	EFO:0007026	"A complex media containing a non-fermentable carbon source (glycerol), that requires respiration competence for yeast growth. It contains yeast extract, peptone, glycerol and distilled water. It can be used as a solid medium with the incusion of agar." []	68275	\N	\N	EFO	0	EFO	YEPG	YEPG
EFO:0007024	EFO:0007026	\N	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	EFO:0007026	"A complex media containing a non-fermentable carbon source (glycerol), that requires respiration competence for yeast growth. It contains yeast extract, peptone, glycerol and distilled water. It can be used as a solid medium with the incusion of agar." []	210303	\N	\N	EFO	1	EFO	yeast media	YEPG
EFO:0000579	EFO:0007024	\N	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	EFO:0007026	"A complex media containing a non-fermentable carbon source (glycerol), that requires respiration competence for yeast growth. It contains yeast extract, peptone, glycerol and distilled water. It can be used as a solid medium with the incusion of agar." []	563490	\N	\N	EFO	2	EFO	media	YEPG
EFO:0000523	EFO:0000579	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0007026	"A complex media containing a non-fermentable carbon source (glycerol), that requires respiration competence for yeast growth. It contains yeast extract, peptone, glycerol and distilled water. It can be used as a solid medium with the incusion of agar." []	1144706	\N	\N	EFO	3	EFO	growth condition	YEPG
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0007026	"A complex media containing a non-fermentable carbon source (glycerol), that requires respiration competence for yeast growth. It contains yeast extract, peptone, glycerol and distilled water. It can be used as a solid medium with the incusion of agar." []	2027280	\N	\N	EFO	4	EFO	biological role	YEPG
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0007026	"A complex media containing a non-fermentable carbon source (glycerol), that requires respiration competence for yeast growth. It contains yeast extract, peptone, glycerol and distilled water. It can be used as a solid medium with the incusion of agar." []	3178813	\N	\N	EFO	5	EFO	role	YEPG
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007026	"A complex media containing a non-fermentable carbon source (glycerol), that requires respiration competence for yeast growth. It contains yeast extract, peptone, glycerol and distilled water. It can be used as a solid medium with the incusion of agar." []	4388413	\N	\N	EFO	6	EFO	material property	YEPG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007026	"A complex media containing a non-fermentable carbon source (glycerol), that requires respiration competence for yeast growth. It contains yeast extract, peptone, glycerol and distilled water. It can be used as a solid medium with the incusion of agar." []	5408885	\N	\N	EFO	7	EFO	experimental factor	YEPG
EFO:0007027	\N	\N	"A synthetic minimal media used for yeast growth; It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	EFO:0007027	"A synthetic minimal media used for yeast growth; It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	68276	\N	\N	EFO	0	EFO	SD	SD
EFO:0007024	EFO:0007027	\N	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	EFO:0007027	"A synthetic minimal media used for yeast growth; It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	210304	\N	\N	EFO	1	EFO	yeast media	SD
EFO:0000579	EFO:0007024	\N	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	EFO:0007027	"A synthetic minimal media used for yeast growth; It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	563491	\N	\N	EFO	2	EFO	media	SD
EFO:0000523	EFO:0000579	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0007027	"A synthetic minimal media used for yeast growth; It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	1144707	\N	\N	EFO	3	EFO	growth condition	SD
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0007027	"A synthetic minimal media used for yeast growth; It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	2027281	\N	\N	EFO	4	EFO	biological role	SD
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0007027	"A synthetic minimal media used for yeast growth; It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	3178814	\N	\N	EFO	5	EFO	role	SD
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007027	"A synthetic minimal media used for yeast growth; It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	4388414	\N	\N	EFO	6	EFO	material property	SD
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007027	"A synthetic minimal media used for yeast growth; It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	5408886	\N	\N	EFO	7	EFO	experimental factor	SD
EFO:0007028	\N	\N	"A synthetic minimal media used for yeast nitrogen starvation experiments; It contains yeast nitrogen base (lacking ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	EFO:0007028	"A synthetic minimal media used for yeast nitrogen starvation experiments; It contains yeast nitrogen base (lacking ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	68277	\N	\N	EFO	0	EFO	SD minus nitrogen	SD minus nitrogen
EFO:0007027	EFO:0007028	\N	"A synthetic minimal media used for yeast growth; It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	EFO:0007028	"A synthetic minimal media used for yeast nitrogen starvation experiments; It contains yeast nitrogen base (lacking ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	210305	\N	\N	EFO	1	EFO	SD	SD minus nitrogen
EFO:0007024	EFO:0007027	\N	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	EFO:0007028	"A synthetic minimal media used for yeast nitrogen starvation experiments; It contains yeast nitrogen base (lacking ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	563492	\N	\N	EFO	2	EFO	yeast media	SD minus nitrogen
EFO:0000579	EFO:0007024	\N	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	EFO:0007028	"A synthetic minimal media used for yeast nitrogen starvation experiments; It contains yeast nitrogen base (lacking ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	1144708	\N	\N	EFO	3	EFO	media	SD minus nitrogen
EFO:0000523	EFO:0000579	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0007028	"A synthetic minimal media used for yeast nitrogen starvation experiments; It contains yeast nitrogen base (lacking ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	2027282	\N	\N	EFO	4	EFO	growth condition	SD minus nitrogen
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0007028	"A synthetic minimal media used for yeast nitrogen starvation experiments; It contains yeast nitrogen base (lacking ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	3178815	\N	\N	EFO	5	EFO	biological role	SD minus nitrogen
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0007028	"A synthetic minimal media used for yeast nitrogen starvation experiments; It contains yeast nitrogen base (lacking ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	4388415	\N	\N	EFO	6	EFO	role	SD minus nitrogen
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007028	"A synthetic minimal media used for yeast nitrogen starvation experiments; It contains yeast nitrogen base (lacking ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	5408887	\N	\N	EFO	7	EFO	material property	SD minus nitrogen
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007028	"A synthetic minimal media used for yeast nitrogen starvation experiments; It contains yeast nitrogen base (lacking ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, to which various growth supplements can be added back, such as one or more amino acids. It can be used as a solid medium with the incusion of agar." []	6147525	\N	\N	EFO	8	EFO	experimental factor	SD minus nitrogen
EFO:0007029	\N	\N	"A synthetic minimal media used for yeast growth. It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, and generally includes all amino acid supplements.  It can be used as a solid medium with the incusion of agar." []	EFO:0007029	"A synthetic minimal media used for yeast growth. It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, and generally includes all amino acid supplements.  It can be used as a solid medium with the incusion of agar." []	68278	\N	\N	EFO	0	EFO	SC	SC
EFO:0007024	EFO:0007029	\N	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	EFO:0007029	"A synthetic minimal media used for yeast growth. It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, and generally includes all amino acid supplements.  It can be used as a solid medium with the incusion of agar." []	210306	\N	\N	EFO	1	EFO	yeast media	SC
EFO:0000579	EFO:0007024	\N	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	EFO:0007029	"A synthetic minimal media used for yeast growth. It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, and generally includes all amino acid supplements.  It can be used as a solid medium with the incusion of agar." []	563493	\N	\N	EFO	2	EFO	media	SC
EFO:0000523	EFO:0000579	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0007029	"A synthetic minimal media used for yeast growth. It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, and generally includes all amino acid supplements.  It can be used as a solid medium with the incusion of agar." []	1144709	\N	\N	EFO	3	EFO	growth condition	SC
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0007029	"A synthetic minimal media used for yeast growth. It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, and generally includes all amino acid supplements.  It can be used as a solid medium with the incusion of agar." []	2027283	\N	\N	EFO	4	EFO	biological role	SC
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0007029	"A synthetic minimal media used for yeast growth. It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, and generally includes all amino acid supplements.  It can be used as a solid medium with the incusion of agar." []	3178816	\N	\N	EFO	5	EFO	role	SC
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007029	"A synthetic minimal media used for yeast growth. It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, and generally includes all amino acid supplements.  It can be used as a solid medium with the incusion of agar." []	4388416	\N	\N	EFO	6	EFO	material property	SC
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007029	"A synthetic minimal media used for yeast growth. It contains a nitrogen source (Bacto-yeast nitrogen base with ammonium sulfate), glucose, distilled water, salts, trace elements and vitamins, and generally includes all amino acid supplements.  It can be used as a solid medium with the incusion of agar." []	5408888	\N	\N	EFO	7	EFO	experimental factor	SC
EFO:0007030	\N	\N	"A complex fatty acid induction media for yeast. It contains yeast extract, peptone, Tween 40, complete synthetic medium, ammonium sulfate, distilled water and oleic acid as carbon source." []	EFO:0007030	"A complex fatty acid induction media for yeast. It contains yeast extract, peptone, Tween 40, complete synthetic medium, ammonium sulfate, distilled water and oleic acid as carbon source." []	68279	\N	\N	EFO	0	EFO	SCIM	SCIM
EFO:0007024	EFO:0007030	\N	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	EFO:0007030	"A complex fatty acid induction media for yeast. It contains yeast extract, peptone, Tween 40, complete synthetic medium, ammonium sulfate, distilled water and oleic acid as carbon source." []	210307	\N	\N	EFO	1	EFO	yeast media	SCIM
EFO:0000579	EFO:0007024	\N	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	EFO:0007030	"A complex fatty acid induction media for yeast. It contains yeast extract, peptone, Tween 40, complete synthetic medium, ammonium sulfate, distilled water and oleic acid as carbon source." []	563494	\N	\N	EFO	2	EFO	media	SCIM
EFO:0000523	EFO:0000579	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0007030	"A complex fatty acid induction media for yeast. It contains yeast extract, peptone, Tween 40, complete synthetic medium, ammonium sulfate, distilled water and oleic acid as carbon source." []	1144710	\N	\N	EFO	3	EFO	growth condition	SCIM
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0007030	"A complex fatty acid induction media for yeast. It contains yeast extract, peptone, Tween 40, complete synthetic medium, ammonium sulfate, distilled water and oleic acid as carbon source." []	2027284	\N	\N	EFO	4	EFO	biological role	SCIM
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0007030	"A complex fatty acid induction media for yeast. It contains yeast extract, peptone, Tween 40, complete synthetic medium, ammonium sulfate, distilled water and oleic acid as carbon source." []	3178817	\N	\N	EFO	5	EFO	role	SCIM
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007030	"A complex fatty acid induction media for yeast. It contains yeast extract, peptone, Tween 40, complete synthetic medium, ammonium sulfate, distilled water and oleic acid as carbon source." []	4388417	\N	\N	EFO	6	EFO	material property	SCIM
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007030	"A complex fatty acid induction media for yeast. It contains yeast extract, peptone, Tween 40, complete synthetic medium, ammonium sulfate, distilled water and oleic acid as carbon source." []	5408889	\N	\N	EFO	7	EFO	experimental factor	SCIM
EFO:0007031	\N	\N	"A synthetic minimal media containing a non-fermentable carbon source (lactate) used for yeast growth. It contains yeast nitrogen base, lactate, auxotrophic requirements, distilled water and vitamins as required." []	EFO:0007031	"A synthetic minimal media containing a non-fermentable carbon source (lactate) used for yeast growth. It contains yeast nitrogen base, lactate, auxotrophic requirements, distilled water and vitamins as required." []	68280	\N	\N	EFO	0	EFO	SL	SL
EFO:0007024	EFO:0007031	\N	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	EFO:0007031	"A synthetic minimal media containing a non-fermentable carbon source (lactate) used for yeast growth. It contains yeast nitrogen base, lactate, auxotrophic requirements, distilled water and vitamins as required." []	210308	\N	\N	EFO	1	EFO	yeast media	SL
EFO:0000579	EFO:0007024	\N	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	EFO:0007031	"A synthetic minimal media containing a non-fermentable carbon source (lactate) used for yeast growth. It contains yeast nitrogen base, lactate, auxotrophic requirements, distilled water and vitamins as required." []	563495	\N	\N	EFO	2	EFO	media	SL
EFO:0000523	EFO:0000579	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0007031	"A synthetic minimal media containing a non-fermentable carbon source (lactate) used for yeast growth. It contains yeast nitrogen base, lactate, auxotrophic requirements, distilled water and vitamins as required." []	1144711	\N	\N	EFO	3	EFO	growth condition	SL
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0007031	"A synthetic minimal media containing a non-fermentable carbon source (lactate) used for yeast growth. It contains yeast nitrogen base, lactate, auxotrophic requirements, distilled water and vitamins as required." []	2027285	\N	\N	EFO	4	EFO	biological role	SL
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0007031	"A synthetic minimal media containing a non-fermentable carbon source (lactate) used for yeast growth. It contains yeast nitrogen base, lactate, auxotrophic requirements, distilled water and vitamins as required." []	3178818	\N	\N	EFO	5	EFO	role	SL
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007031	"A synthetic minimal media containing a non-fermentable carbon source (lactate) used for yeast growth. It contains yeast nitrogen base, lactate, auxotrophic requirements, distilled water and vitamins as required." []	4388418	\N	\N	EFO	6	EFO	material property	SL
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007031	"A synthetic minimal media containing a non-fermentable carbon source (lactate) used for yeast growth. It contains yeast nitrogen base, lactate, auxotrophic requirements, distilled water and vitamins as required." []	5408890	\N	\N	EFO	7	EFO	experimental factor	SL
EFO:0007032	\N	\N	"A synthetic defined minimal media for yeast containing potassium phosphate, magnesium sulfate, sodium chloride, calcium chloride, zinc sulfate, iron (III) chloride, copper sulfate, potassium iodide, inositol, thiamine hydrochloride, pyridoxine, calcium pantothenate, biotin, uracil, glucose and distilled water." []	EFO:0007032	"A synthetic defined minimal media for yeast containing potassium phosphate, magnesium sulfate, sodium chloride, calcium chloride, zinc sulfate, iron (III) chloride, copper sulfate, potassium iodide, inositol, thiamine hydrochloride, pyridoxine, calcium pantothenate, biotin, uracil, glucose and distilled water." []	68281	\N	\N	EFO	0	EFO	F1	F1
EFO:0007024	EFO:0007032	\N	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	EFO:0007032	"A synthetic defined minimal media for yeast containing potassium phosphate, magnesium sulfate, sodium chloride, calcium chloride, zinc sulfate, iron (III) chloride, copper sulfate, potassium iodide, inositol, thiamine hydrochloride, pyridoxine, calcium pantothenate, biotin, uracil, glucose and distilled water." []	210309	\N	\N	EFO	1	EFO	yeast media	F1
EFO:0000579	EFO:0007024	\N	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	EFO:0007032	"A synthetic defined minimal media for yeast containing potassium phosphate, magnesium sulfate, sodium chloride, calcium chloride, zinc sulfate, iron (III) chloride, copper sulfate, potassium iodide, inositol, thiamine hydrochloride, pyridoxine, calcium pantothenate, biotin, uracil, glucose and distilled water." []	563496	\N	\N	EFO	2	EFO	media	F1
EFO:0000523	EFO:0000579	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0007032	"A synthetic defined minimal media for yeast containing potassium phosphate, magnesium sulfate, sodium chloride, calcium chloride, zinc sulfate, iron (III) chloride, copper sulfate, potassium iodide, inositol, thiamine hydrochloride, pyridoxine, calcium pantothenate, biotin, uracil, glucose and distilled water." []	1144712	\N	\N	EFO	3	EFO	growth condition	F1
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0007032	"A synthetic defined minimal media for yeast containing potassium phosphate, magnesium sulfate, sodium chloride, calcium chloride, zinc sulfate, iron (III) chloride, copper sulfate, potassium iodide, inositol, thiamine hydrochloride, pyridoxine, calcium pantothenate, biotin, uracil, glucose and distilled water." []	2027286	\N	\N	EFO	4	EFO	biological role	F1
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0007032	"A synthetic defined minimal media for yeast containing potassium phosphate, magnesium sulfate, sodium chloride, calcium chloride, zinc sulfate, iron (III) chloride, copper sulfate, potassium iodide, inositol, thiamine hydrochloride, pyridoxine, calcium pantothenate, biotin, uracil, glucose and distilled water." []	3178819	\N	\N	EFO	5	EFO	role	F1
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007032	"A synthetic defined minimal media for yeast containing potassium phosphate, magnesium sulfate, sodium chloride, calcium chloride, zinc sulfate, iron (III) chloride, copper sulfate, potassium iodide, inositol, thiamine hydrochloride, pyridoxine, calcium pantothenate, biotin, uracil, glucose and distilled water." []	4388419	\N	\N	EFO	6	EFO	material property	F1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007032	"A synthetic defined minimal media for yeast containing potassium phosphate, magnesium sulfate, sodium chloride, calcium chloride, zinc sulfate, iron (III) chloride, copper sulfate, potassium iodide, inositol, thiamine hydrochloride, pyridoxine, calcium pantothenate, biotin, uracil, glucose and distilled water." []	5408891	\N	\N	EFO	7	EFO	experimental factor	F1
EFO:0007033	\N	\N	"A poor media used to induce sporulation in yeast. It contains potassium acetate, yeast extract, glucose and distilled water.  It can be used as a solid medium with the incusion of agar." []	EFO:0007033	"A poor media used to induce sporulation in yeast. It contains potassium acetate, yeast extract, glucose and distilled water.  It can be used as a solid medium with the incusion of agar." []	68282	\N	\N	EFO	0	EFO	SPO	SPO
EFO:0007024	EFO:0007033	\N	"A medium to grow and maintain yeast - typically, a yeast culture medium includes peptone, yeast extract, and dextrose or glucose. Even slight differences in media composition can yield yeasts with distinct growth characteristics." []	EFO:0007033	"A poor media used to induce sporulation in yeast. It contains potassium acetate, yeast extract, glucose and distilled water.  It can be used as a solid medium with the incusion of agar." []	210310	\N	\N	EFO	1	EFO	yeast media	SPO
EFO:0000579	EFO:0007024	\N	"The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil)." []	EFO:0007033	"A poor media used to induce sporulation in yeast. It contains potassium acetate, yeast extract, glucose and distilled water.  It can be used as a solid medium with the incusion of agar." []	563497	\N	\N	EFO	2	EFO	media	SPO
EFO:0000523	EFO:0000579	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0007033	"A poor media used to induce sporulation in yeast. It contains potassium acetate, yeast extract, glucose and distilled water.  It can be used as a solid medium with the incusion of agar." []	1144713	\N	\N	EFO	3	EFO	growth condition	SPO
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0007033	"A poor media used to induce sporulation in yeast. It contains potassium acetate, yeast extract, glucose and distilled water.  It can be used as a solid medium with the incusion of agar." []	2027287	\N	\N	EFO	4	EFO	biological role	SPO
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0007033	"A poor media used to induce sporulation in yeast. It contains potassium acetate, yeast extract, glucose and distilled water.  It can be used as a solid medium with the incusion of agar." []	3178820	\N	\N	EFO	5	EFO	role	SPO
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007033	"A poor media used to induce sporulation in yeast. It contains potassium acetate, yeast extract, glucose and distilled water.  It can be used as a solid medium with the incusion of agar." []	4388420	\N	\N	EFO	6	EFO	material property	SPO
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007033	"A poor media used to induce sporulation in yeast. It contains potassium acetate, yeast extract, glucose and distilled water.  It can be used as a solid medium with the incusion of agar." []	5408892	\N	\N	EFO	7	EFO	experimental factor	SPO
EFO:0007034	\N	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0007034	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	68283	\N	\N	EFO	0	EFO	seropositivity measurement	seropositivity measurement
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007034	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	210311	\N	\N	EFO	1	EFO	measurement	seropositivity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007034	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	563498	\N	\N	EFO	2	EFO	information entity	seropositivity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007034	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	1144714	\N	\N	EFO	3	EFO	experimental factor	seropositivity measurement
EFO:0007035	\N	\N	"Chlamydia pneumoniae seropositivity is the result of a measurement of circulating C. pneumoniae specific antibodies " []	EFO:0007035	"Chlamydia pneumoniae seropositivity is the result of a measurement of circulating C. pneumoniae specific antibodies " []	68284	\N	\N	EFO	0	EFO	Chlamydia pneumoniae seropositivity	Chlamydia pneumoniae seropositivity
EFO:0006843	EFO:0007035	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0007035	"Chlamydia pneumoniae seropositivity is the result of a measurement of circulating C. pneumoniae specific antibodies " []	210312	\N	\N	EFO	1	EFO	infectious disease biomarker	Chlamydia pneumoniae seropositivity
EFO:0007034	EFO:0007035	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0007035	"Chlamydia pneumoniae seropositivity is the result of a measurement of circulating C. pneumoniae specific antibodies " []	210313	\N	\N	EFO	1	EFO	seropositivity measurement	Chlamydia pneumoniae seropositivity
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007035	"Chlamydia pneumoniae seropositivity is the result of a measurement of circulating C. pneumoniae specific antibodies " []	563499	\N	\N	EFO	2	EFO	measurement	Chlamydia pneumoniae seropositivity
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007035	"Chlamydia pneumoniae seropositivity is the result of a measurement of circulating C. pneumoniae specific antibodies " []	563500	\N	\N	EFO	2	EFO	measurement	Chlamydia pneumoniae seropositivity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007035	"Chlamydia pneumoniae seropositivity is the result of a measurement of circulating C. pneumoniae specific antibodies " []	1144715	\N	\N	EFO	3	EFO	information entity	Chlamydia pneumoniae seropositivity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007035	"Chlamydia pneumoniae seropositivity is the result of a measurement of circulating C. pneumoniae specific antibodies " []	2027288	\N	\N	EFO	4	EFO	experimental factor	Chlamydia pneumoniae seropositivity
EFO:0007036	\N	\N	"herpes virus seropositivity is the result of a measurement of circulating herpes virus specific antibodies " []	EFO:0007036	"herpes virus seropositivity is the result of a measurement of circulating herpes virus specific antibodies " []	68285	\N	\N	EFO	0	EFO	herpes virus seropositivity	herpes virus seropositivity
EFO:0006843	EFO:0007036	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0007036	"herpes virus seropositivity is the result of a measurement of circulating herpes virus specific antibodies " []	210314	\N	\N	EFO	1	EFO	infectious disease biomarker	herpes virus seropositivity
EFO:0007034	EFO:0007036	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0007036	"herpes virus seropositivity is the result of a measurement of circulating herpes virus specific antibodies " []	210315	\N	\N	EFO	1	EFO	seropositivity measurement	herpes virus seropositivity
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007036	"herpes virus seropositivity is the result of a measurement of circulating herpes virus specific antibodies " []	563501	\N	\N	EFO	2	EFO	measurement	herpes virus seropositivity
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007036	"herpes virus seropositivity is the result of a measurement of circulating herpes virus specific antibodies " []	563502	\N	\N	EFO	2	EFO	measurement	herpes virus seropositivity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007036	"herpes virus seropositivity is the result of a measurement of circulating herpes virus specific antibodies " []	1144716	\N	\N	EFO	3	EFO	information entity	herpes virus seropositivity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007036	"herpes virus seropositivity is the result of a measurement of circulating herpes virus specific antibodies " []	2027289	\N	\N	EFO	4	EFO	experimental factor	herpes virus seropositivity
EFO:0007037	\N	\N	"cytomegalovirus seropositivity is the result of a measurement of circulating cytomegalovirus specific antibodies " []	EFO:0007037	"cytomegalovirus seropositivity is the result of a measurement of circulating cytomegalovirus specific antibodies " []	68286	\N	\N	EFO	0	EFO	cytomegalovirus seropositivity	cytomegalovirus seropositivity
EFO:0006843	EFO:0007037	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0007037	"cytomegalovirus seropositivity is the result of a measurement of circulating cytomegalovirus specific antibodies " []	210316	\N	\N	EFO	1	EFO	infectious disease biomarker	cytomegalovirus seropositivity
EFO:0007034	EFO:0007037	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0007037	"cytomegalovirus seropositivity is the result of a measurement of circulating cytomegalovirus specific antibodies " []	210317	\N	\N	EFO	1	EFO	seropositivity measurement	cytomegalovirus seropositivity
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007037	"cytomegalovirus seropositivity is the result of a measurement of circulating cytomegalovirus specific antibodies " []	563503	\N	\N	EFO	2	EFO	measurement	cytomegalovirus seropositivity
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007037	"cytomegalovirus seropositivity is the result of a measurement of circulating cytomegalovirus specific antibodies " []	563504	\N	\N	EFO	2	EFO	measurement	cytomegalovirus seropositivity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007037	"cytomegalovirus seropositivity is the result of a measurement of circulating cytomegalovirus specific antibodies " []	1144717	\N	\N	EFO	3	EFO	information entity	cytomegalovirus seropositivity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007037	"cytomegalovirus seropositivity is the result of a measurement of circulating cytomegalovirus specific antibodies " []	2027290	\N	\N	EFO	4	EFO	experimental factor	cytomegalovirus seropositivity
EFO:0007038	\N	\N	"Influenza A seropositivity is the result of a measurement of circulating Influenza A specific antibodies " []	EFO:0007038	"Influenza A seropositivity is the result of a measurement of circulating Influenza A specific antibodies " []	68287	\N	\N	EFO	0	EFO	Influenza A seropositivity	Influenza A seropositivity
EFO:0007034	EFO:0007038	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0007038	"Influenza A seropositivity is the result of a measurement of circulating Influenza A specific antibodies " []	210318	\N	\N	EFO	1	EFO	seropositivity measurement	Influenza A seropositivity
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007038	"Influenza A seropositivity is the result of a measurement of circulating Influenza A specific antibodies " []	563505	\N	\N	EFO	2	EFO	measurement	Influenza A seropositivity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007038	"Influenza A seropositivity is the result of a measurement of circulating Influenza A specific antibodies " []	1144718	\N	\N	EFO	3	EFO	information entity	Influenza A seropositivity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007038	"Influenza A seropositivity is the result of a measurement of circulating Influenza A specific antibodies " []	2027291	\N	\N	EFO	4	EFO	experimental factor	Influenza A seropositivity
EFO:0007039	\N	\N	"human herpesvirus 8 seropositivity is the result of a measurement of circulating human herpesvirus 8 specific antibodies " []	EFO:0007039	"human herpesvirus 8 seropositivity is the result of a measurement of circulating human herpesvirus 8 specific antibodies " []	68288	\N	\N	EFO	0	EFO	human herpesvirus 8 seropositivity	human herpesvirus 8 seropositivity
EFO:0006843	EFO:0007039	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0007039	"human herpesvirus 8 seropositivity is the result of a measurement of circulating human herpesvirus 8 specific antibodies " []	210319	\N	\N	EFO	1	EFO	infectious disease biomarker	human herpesvirus 8 seropositivity
EFO:0007034	EFO:0007039	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0007039	"human herpesvirus 8 seropositivity is the result of a measurement of circulating human herpesvirus 8 specific antibodies " []	210320	\N	\N	EFO	1	EFO	seropositivity measurement	human herpesvirus 8 seropositivity
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007039	"human herpesvirus 8 seropositivity is the result of a measurement of circulating human herpesvirus 8 specific antibodies " []	563506	\N	\N	EFO	2	EFO	measurement	human herpesvirus 8 seropositivity
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007039	"human herpesvirus 8 seropositivity is the result of a measurement of circulating human herpesvirus 8 specific antibodies " []	563507	\N	\N	EFO	2	EFO	measurement	human herpesvirus 8 seropositivity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007039	"human herpesvirus 8 seropositivity is the result of a measurement of circulating human herpesvirus 8 specific antibodies " []	1144719	\N	\N	EFO	3	EFO	information entity	human herpesvirus 8 seropositivity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007039	"human herpesvirus 8 seropositivity is the result of a measurement of circulating human herpesvirus 8 specific antibodies " []	2027292	\N	\N	EFO	4	EFO	experimental factor	human herpesvirus 8 seropositivity
EFO:0007040	\N	\N	"quantification of some lead in a blood sample" []	EFO:0007040	"quantification of some lead in a blood sample" []	68289	\N	\N	EFO	0	EFO	blood lead measurement	blood lead measurement
EFO:0007574	EFO:0007040	\N	"quantification of some toxic metal in a blood sample" []	EFO:0007040	"quantification of some lead in a blood sample" []	210321	\N	\N	EFO	1	EFO	blood toxic metal measurement	blood lead measurement
EFO:0001444	EFO:0007574	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007040	"quantification of some lead in a blood sample" []	563508	\N	\N	EFO	2	EFO	measurement	blood lead measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007040	"quantification of some lead in a blood sample" []	1144720	\N	\N	EFO	3	EFO	information entity	blood lead measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007040	"quantification of some lead in a blood sample" []	2027293	\N	\N	EFO	4	EFO	experimental factor	blood lead measurement
EFO:0007041	\N	\N	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a BMI > 30." []	EFO:0007041	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a BMI > 30." []	68290	\N	\N	EFO	0	EFO	obese body mass index status	obese body mass index status
EFO:0004340	EFO:0007041	\N	"An indicator of body density as determined by the relationship of BODY WEIGHTtoBODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)" []	EFO:0007041	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a BMI > 30." []	210322	\N	\N	EFO	1	EFO	body mass index	obese body mass index status
EFO:0004324	EFO:0004340	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0007041	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a BMI > 30." []	563509	\N	\N	EFO	2	EFO	body weights and measures	obese body mass index status
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0007041	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a BMI > 30." []	1144721	\N	\N	EFO	3	EFO	anthropometric measurement	obese body mass index status
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007041	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a BMI > 30." []	2027294	\N	\N	EFO	4	EFO	measurement	obese body mass index status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007041	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a BMI > 30." []	3178821	\N	\N	EFO	5	EFO	information entity	obese body mass index status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007041	"quantification of weight/height relationships above a certain threshold that classes an individual as overweight. This threshold may vary based on an individual's ethnicity but is commonly considered to correspond in European populations to a BMI > 30." []	4388421	\N	\N	EFO	6	EFO	experimental factor	obese body mass index status
EFO:0007042	\N	\N	"quantification in a sample of some polychlorinated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	EFO:0007042	"quantification in a sample of some polychlorinated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	68291	\N	\N	EFO	0	EFO	polychlorinated biphenyls measurement	polychlorinated biphenyls measurement
EFO:0001444	EFO:0007042	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007042	"quantification in a sample of some polychlorinated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	210323	\N	\N	EFO	1	EFO	measurement	polychlorinated biphenyls measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007042	"quantification in a sample of some polychlorinated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	563510	\N	\N	EFO	2	EFO	information entity	polychlorinated biphenyls measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007042	"quantification in a sample of some polychlorinated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	1144722	\N	\N	EFO	3	EFO	experimental factor	polychlorinated biphenyls measurement
EFO:0007043	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transplant, generally of some form of tissue" []	EFO:0007043	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transplant, generally of some form of tissue" []	68292	\N	\N	EFO	0	EFO	response to transplant	response to transplant
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0007043	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transplant, generally of some form of tissue" []	194856	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to transplant
EFO:0007044	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an allogeneic hematopoietic stem cell transplant" []	EFO:0007044	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an allogeneic hematopoietic stem cell transplant" []	68293	\N	\N	EFO	0	EFO	response to allogeneic hematopoietic stem cell transplant	response to allogeneic hematopoietic stem cell transplant
EFO:0007043	EFO:0007044	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transplant, generally of some form of tissue" []	EFO:0007044	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an allogeneic hematopoietic stem cell transplant" []	210324	\N	\N	EFO	1	EFO	response to transplant	response to allogeneic hematopoietic stem cell transplant
EFO:0007045	\N	\N	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	68294	\N	\N	EFO	0	EFO	ATAC-seq	ATAC-seq
EFO:0002693	EFO:0007045	\N	"An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence" []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	210325	\N	\N	EFO	1	EFO	DNA-seq	ATAC-seq
EFO:0001456	EFO:0002693	\N	"An assay with input DNA" []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	563511	\N	\N	EFO	2	EFO	DNA assay	ATAC-seq
EFO:0002770	EFO:0002693	\N	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	563512	\N	\N	EFO	2	EFO	transcription profiling by high throughput sequencing	ATAC-seq
EFO:0002772	EFO:0001456	\N	"" []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	1144723	\N	\N	EFO	3	EFO	assay by molecule	ATAC-seq
EFO:0001032	EFO:0002770	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	1144724	\N	\N	EFO	3	EFO	transcription profiling	ATAC-seq
EFO:0001457	EFO:0002770	\N	"An assay with input RNA" []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	1144725	\N	\N	EFO	3	EFO	RNA assay	ATAC-seq
EFO:0002697	EFO:0002770	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	1144726	\N	\N	EFO	3	EFO	assay by high throughput sequencer	ATAC-seq
EFO:0004120	EFO:0002770	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	1144727	\N	\N	EFO	3	EFO	ArrayExpress experiment type	ATAC-seq
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	3178824	\N	\N	EFO	5	EFO	assay	ATAC-seq
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	2027296	\N	\N	EFO	4	EFO	experimental process	ATAC-seq
EFO:0002772	EFO:0001457	\N	"" []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	2027297	\N	\N	EFO	4	EFO	assay by molecule	ATAC-seq
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	2027298	\N	\N	EFO	4	EFO	assay by sequencer	ATAC-seq
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	2027299	\N	\N	EFO	4	EFO	experimental process	ATAC-seq
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	5408894	\N	\N	EFO	7	EFO	experimental process	ATAC-seq
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	5876545	\N	\N	EFO	8	EFO	planned process	ATAC-seq
EFO:0002773	EFO:0003740	\N	"" []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	3178825	\N	\N	EFO	5	EFO	assay by instrument	ATAC-seq
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	6409753	\N	\N	EFO	9	EFO	process	ATAC-seq
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	4388424	\N	\N	EFO	6	EFO	assay	ATAC-seq
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007045	"Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol." []	6807629	\N	\N	EFO	10	EFO	experimental factor	ATAC-seq
EFO:0007046	\N	\N	"A set of mental processes that controls and manages the cognitive functions." []	EFO:0007046	"A set of mental processes that controls and manages the cognitive functions." []	68295	\N	\N	EFO	0	EFO	executive function	executive function
EFO:0004323	EFO:0007046	\N	"Conceptual functions or thinking in all its forms." []	EFO:0007046	"A set of mental processes that controls and manages the cognitive functions." []	210326	\N	\N	EFO	1	EFO	mental process	executive function
EFO:0007047	\N	\N	"Toxoplasma gondii seropositivity is the result of a measurement of circulating T. gondii specific antibodies. T. gondii is a parasitic protozoan that causes toxoplasmosis" []	EFO:0007047	"Toxoplasma gondii seropositivity is the result of a measurement of circulating T. gondii specific antibodies. T. gondii is a parasitic protozoan that causes toxoplasmosis" []	68296	\N	\N	EFO	0	EFO	Toxoplasma gondii seropositivity	Toxoplasma gondii seropositivity
EFO:0007034	EFO:0007047	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0007047	"Toxoplasma gondii seropositivity is the result of a measurement of circulating T. gondii specific antibodies. T. gondii is a parasitic protozoan that causes toxoplasmosis" []	210327	\N	\N	EFO	1	EFO	seropositivity measurement	Toxoplasma gondii seropositivity
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007047	"Toxoplasma gondii seropositivity is the result of a measurement of circulating T. gondii specific antibodies. T. gondii is a parasitic protozoan that causes toxoplasmosis" []	563513	\N	\N	EFO	2	EFO	measurement	Toxoplasma gondii seropositivity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007047	"Toxoplasma gondii seropositivity is the result of a measurement of circulating T. gondii specific antibodies. T. gondii is a parasitic protozoan that causes toxoplasmosis" []	1144728	\N	\N	EFO	3	EFO	information entity	Toxoplasma gondii seropositivity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007047	"Toxoplasma gondii seropositivity is the result of a measurement of circulating T. gondii specific antibodies. T. gondii is a parasitic protozoan that causes toxoplasmosis" []	2027300	\N	\N	EFO	4	EFO	experimental factor	Toxoplasma gondii seropositivity
EFO:0007048	\N	\N	"human herpesvirus 6 seropositivity is the result of a measurement of circulating human herpesvirus 6 specific antibodies" []	EFO:0007048	"human herpesvirus 6 seropositivity is the result of a measurement of circulating human herpesvirus 6 specific antibodies" []	68297	\N	\N	EFO	0	EFO	human herpesvirus 6 seropositivity	human herpesvirus 6 seropositivity
EFO:0007034	EFO:0007048	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0007048	"human herpesvirus 6 seropositivity is the result of a measurement of circulating human herpesvirus 6 specific antibodies" []	210328	\N	\N	EFO	1	EFO	seropositivity measurement	human herpesvirus 6 seropositivity
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007048	"human herpesvirus 6 seropositivity is the result of a measurement of circulating human herpesvirus 6 specific antibodies" []	563514	\N	\N	EFO	2	EFO	measurement	human herpesvirus 6 seropositivity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007048	"human herpesvirus 6 seropositivity is the result of a measurement of circulating human herpesvirus 6 specific antibodies" []	1144729	\N	\N	EFO	3	EFO	information entity	human herpesvirus 6 seropositivity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007048	"human herpesvirus 6 seropositivity is the result of a measurement of circulating human herpesvirus 6 specific antibodies" []	2027301	\N	\N	EFO	4	EFO	experimental factor	human herpesvirus 6 seropositivity
EFO:0007049	\N	\N	"gliadim seropositivity is the result of a measurement of circulating  antibodies specific to the food antigen gliadin" []	EFO:0007049	"gliadim seropositivity is the result of a measurement of circulating  antibodies specific to the food antigen gliadin" []	68298	\N	\N	EFO	0	EFO	gliadin seropositivity	gliadin seropositivity
EFO:0007034	EFO:0007049	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0007049	"gliadim seropositivity is the result of a measurement of circulating  antibodies specific to the food antigen gliadin" []	210329	\N	\N	EFO	1	EFO	seropositivity measurement	gliadin seropositivity
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007049	"gliadim seropositivity is the result of a measurement of circulating  antibodies specific to the food antigen gliadin" []	563515	\N	\N	EFO	2	EFO	measurement	gliadin seropositivity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007049	"gliadim seropositivity is the result of a measurement of circulating  antibodies specific to the food antigen gliadin" []	1144730	\N	\N	EFO	3	EFO	information entity	gliadin seropositivity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007049	"gliadim seropositivity is the result of a measurement of circulating  antibodies specific to the food antigen gliadin" []	2027302	\N	\N	EFO	4	EFO	experimental factor	gliadin seropositivity
EFO:0007050	\N	\N	"HSV1 seropositivity is the result of a measurement of circulating herpes simplex virus type 1 specific antibodies " []	EFO:0007050	"HSV1 seropositivity is the result of a measurement of circulating herpes simplex virus type 1 specific antibodies " []	68299	\N	\N	EFO	0	EFO	HSV1 seropositivity	HSV1 seropositivity
EFO:0007034	EFO:0007050	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0007050	"HSV1 seropositivity is the result of a measurement of circulating herpes simplex virus type 1 specific antibodies " []	210330	\N	\N	EFO	1	EFO	seropositivity measurement	HSV1 seropositivity
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007050	"HSV1 seropositivity is the result of a measurement of circulating herpes simplex virus type 1 specific antibodies " []	563516	\N	\N	EFO	2	EFO	measurement	HSV1 seropositivity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007050	"HSV1 seropositivity is the result of a measurement of circulating herpes simplex virus type 1 specific antibodies " []	1144731	\N	\N	EFO	3	EFO	information entity	HSV1 seropositivity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007050	"HSV1 seropositivity is the result of a measurement of circulating herpes simplex virus type 1 specific antibodies " []	2027303	\N	\N	EFO	4	EFO	experimental factor	HSV1 seropositivity
EFO:0007051	\N	\N	"abnormal narrowing of a vein graft site following a coronary artery bypass " []	EFO:0007051	"abnormal narrowing of a vein graft site following a coronary artery bypass " []	68300	\N	\N	EFO	0	EFO	vein graft stenosis	vein graft stenosis
EFO:0006818	EFO:0007051	\N	"abnormal narrowing in a blood vessel or other tubular organ or structure" []	EFO:0007051	"abnormal narrowing of a vein graft site following a coronary artery bypass " []	210331	\N	\N	EFO	1	EFO	stricture	vein graft stenosis
EFO:0003765	EFO:0006818	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0007051	"abnormal narrowing of a vein graft site following a coronary artery bypass " []	563517	\N	\N	EFO	2	EFO	sign or symptom	vein graft stenosis
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007051	"abnormal narrowing of a vein graft site following a coronary artery bypass " []	1144732	\N	\N	EFO	3	EFO	phenotype	vein graft stenosis
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007051	"abnormal narrowing of a vein graft site following a coronary artery bypass " []	2027304	\N	\N	EFO	4	EFO	quality	vein graft stenosis
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007051	"abnormal narrowing of a vein graft site following a coronary artery bypass " []	3178826	\N	\N	EFO	5	EFO	material property	vein graft stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007051	"abnormal narrowing of a vein graft site following a coronary artery bypass " []	4388425	\N	\N	EFO	6	EFO	experimental factor	vein graft stenosis
EFO:0007052	\N	\N	"quantification of some aspect of adult antisocial behaviour (AAB), a form of disordered behaviour that is moderately heritable, relatively common and has adverse consequences for individuals and society. AAB is generally measured via questionnaires and psychological assessments, e.g. using a count of the number of Antisocial Personality Disorder criteria endorsed under criterion A from the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV)" []	EFO:0007052	"quantification of some aspect of adult antisocial behaviour (AAB), a form of disordered behaviour that is moderately heritable, relatively common and has adverse consequences for individuals and society. AAB is generally measured via questionnaires and psychological assessments, e.g. using a count of the number of Antisocial Personality Disorder criteria endorsed under criterion A from the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV)" []	68301	\N	\N	EFO	0	EFO	adult antisocial behaviour measurement	adult antisocial behaviour measurement
EFO:0006848	EFO:0007052	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007052	"quantification of some aspect of adult antisocial behaviour (AAB), a form of disordered behaviour that is moderately heritable, relatively common and has adverse consequences for individuals and society. AAB is generally measured via questionnaires and psychological assessments, e.g. using a count of the number of Antisocial Personality Disorder criteria endorsed under criterion A from the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV)" []	210332	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	adult antisocial behaviour measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007052	"quantification of some aspect of adult antisocial behaviour (AAB), a form of disordered behaviour that is moderately heritable, relatively common and has adverse consequences for individuals and society. AAB is generally measured via questionnaires and psychological assessments, e.g. using a count of the number of Antisocial Personality Disorder criteria endorsed under criterion A from the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV)" []	563518	\N	\N	EFO	2	EFO	measurement	adult antisocial behaviour measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007052	"quantification of some aspect of adult antisocial behaviour (AAB), a form of disordered behaviour that is moderately heritable, relatively common and has adverse consequences for individuals and society. AAB is generally measured via questionnaires and psychological assessments, e.g. using a count of the number of Antisocial Personality Disorder criteria endorsed under criterion A from the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV)" []	1144733	\N	\N	EFO	3	EFO	information entity	adult antisocial behaviour measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007052	"quantification of some aspect of adult antisocial behaviour (AAB), a form of disordered behaviour that is moderately heritable, relatively common and has adverse consequences for individuals and society. AAB is generally measured via questionnaires and psychological assessments, e.g. using a count of the number of Antisocial Personality Disorder criteria endorsed under criterion A from the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV)" []	2027305	\N	\N	EFO	4	EFO	experimental factor	adult antisocial behaviour measurement
EFO:0007053	\N	\N	"Myelosuppression or bone marrow suppression is a condition in which bone marrow activity is decreased, resulting in fewer red blood cells, white blood cells, and platelets. Myelosuppression is a side effect of some cancer treatments. When myelosuppression is severe, it is called myeloablation." []	EFO:0007053	"Myelosuppression or bone marrow suppression is a condition in which bone marrow activity is decreased, resulting in fewer red blood cells, white blood cells, and platelets. Myelosuppression is a side effect of some cancer treatments. When myelosuppression is severe, it is called myeloablation." []	68302	\N	\N	EFO	0	EFO	myelosuppression	myelosuppression
HP:0000924	\N	\N	"An abnormality of the skeletal system." [HPO:probinson]	EFO:0007053	"Myelosuppression or bone marrow suppression is a condition in which bone marrow activity is decreased, resulting in fewer red blood cells, white blood cells, and platelets. Myelosuppression is a side effect of some cancer treatments. When myelosuppression is severe, it is called myeloablation." []	194857	\N	\N	EFO	0	EFO	Abnormality of the skeletal system	myelosuppression
EFO:0007054	\N	\N	"quantification of microsatellite instability" []	EFO:0007054	"quantification of microsatellite instability" []	68303	\N	\N	EFO	0	EFO	microsatellite instability measurement	microsatellite instability measurement
EFO:0001444	EFO:0007054	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007054	"quantification of microsatellite instability" []	210333	\N	\N	EFO	1	EFO	measurement	microsatellite instability measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007054	"quantification of microsatellite instability" []	563519	\N	\N	EFO	2	EFO	information entity	microsatellite instability measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007054	"quantification of microsatellite instability" []	1144734	\N	\N	EFO	3	EFO	experimental factor	microsatellite instability measurement
EFO:0007055	\N	\N	"" []	EFO:0007055	"" []	68304	\N	\N	EFO	0	EFO	microgram per gram body weight	microgram per gram body weight
UO:0000051	EFO:0007055	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	EFO:0007055	"" []	210334	\N	\N	EFO	1	EFO	concentration unit	microgram per gram body weight
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	EFO:0007055	"" []	563520	\N	\N	EFO	2	EFO	derived unit	microgram per gram body weight
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	EFO:0007055	"" []	1144735	\N	\N	EFO	3	EFO	unit	microgram per gram body weight
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007055	"" []	2027306	\N	\N	EFO	4	EFO	information entity	microgram per gram body weight
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007055	"" []	3178827	\N	\N	EFO	5	EFO	experimental factor	microgram per gram body weight
EFO:0007056	\N	\N	"Where a drug or surgery has been used to treat an individual with a particular condition." []	EFO:0007056	"Where a drug or surgery has been used to treat an individual with a particular condition." []	68305	\N	\N	EFO	0	EFO	clinical treatment	clinical treatment
EFO:0000727	EFO:0007056	\N	"A process in which the act is intended to modify or alter some other material entity," []	EFO:0007056	"Where a drug or surgery has been used to treat an individual with a particular condition." []	210335	\N	\N	EFO	1	EFO	treatment	clinical treatment
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007056	"Where a drug or surgery has been used to treat an individual with a particular condition." []	563521	\N	\N	EFO	2	EFO	experimental process	clinical treatment
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007056	"Where a drug or surgery has been used to treat an individual with a particular condition." []	1144736	\N	\N	EFO	3	EFO	planned process	clinical treatment
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007056	"Where a drug or surgery has been used to treat an individual with a particular condition." []	2027307	\N	\N	EFO	4	EFO	process	clinical treatment
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007056	"Where a drug or surgery has been used to treat an individual with a particular condition." []	3178828	\N	\N	EFO	5	EFO	experimental factor	clinical treatment
EFO:0007057	\N	\N	"A measure of how fast cancer cells are dividing and growing. To find the mitotic rate, the number of cells dividing in a certain amount of cancer tissue is counted. Mitotic rate is used to help find the stage of melanoma (a type of skin cancer) and other types of cancer. Higher mitotic rates are linked with lower survival rates." []	EFO:0007057	"A measure of how fast cancer cells are dividing and growing. To find the mitotic rate, the number of cells dividing in a certain amount of cancer tissue is counted. Mitotic rate is used to help find the stage of melanoma (a type of skin cancer) and other types of cancer. Higher mitotic rates are linked with lower survival rates." []	68306	\N	\N	EFO	0	EFO	miotic rate	miotic rate
EFO:0001444	EFO:0007057	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007057	"A measure of how fast cancer cells are dividing and growing. To find the mitotic rate, the number of cells dividing in a certain amount of cancer tissue is counted. Mitotic rate is used to help find the stage of melanoma (a type of skin cancer) and other types of cancer. Higher mitotic rates are linked with lower survival rates." []	210336	\N	\N	EFO	1	EFO	measurement	miotic rate
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007057	"A measure of how fast cancer cells are dividing and growing. To find the mitotic rate, the number of cells dividing in a certain amount of cancer tissue is counted. Mitotic rate is used to help find the stage of melanoma (a type of skin cancer) and other types of cancer. Higher mitotic rates are linked with lower survival rates." []	563522	\N	\N	EFO	2	EFO	information entity	miotic rate
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007057	"A measure of how fast cancer cells are dividing and growing. To find the mitotic rate, the number of cells dividing in a certain amount of cancer tissue is counted. Mitotic rate is used to help find the stage of melanoma (a type of skin cancer) and other types of cancer. Higher mitotic rates are linked with lower survival rates." []	1144737	\N	\N	EFO	3	EFO	experimental factor	miotic rate
EFO:0007058	\N	\N	"The date or time of the last check of a patient by a medical professional." []	EFO:0007058	"The date or time of the last check of a patient by a medical professional." []	68307	\N	\N	EFO	0	EFO	last follow up	last follow up
EFO:0004949	EFO:0007058	\N	"A temporal measurement related to disease progression" []	EFO:0007058	"The date or time of the last check of a patient by a medical professional." []	210337	\N	\N	EFO	1	EFO	clinical temporal measurement	last follow up
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0007058	"The date or time of the last check of a patient by a medical professional." []	563523	\N	\N	EFO	2	EFO	temporal measurement	last follow up
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007058	"The date or time of the last check of a patient by a medical professional." []	1144738	\N	\N	EFO	3	EFO	measurement	last follow up
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007058	"The date or time of the last check of a patient by a medical professional." []	2027308	\N	\N	EFO	4	EFO	information entity	last follow up
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007058	"The date or time of the last check of a patient by a medical professional." []	3178829	\N	\N	EFO	5	EFO	experimental factor	last follow up
EFO:0007059	\N	\N	"Germplasm is the living genetic resources such as seeds or tissue that is maintained for the purpose of animal and plant breeding, preservation, and other research uses. These resources may take the form of seed collections stored in seed banks, trees growing in nurseries, animal breeding lines maintained in animal breeding programs or gene banks, etc. Germplasm collections can range from collections of wild species to elite, domesticated breeding lines that have undergone extensive human selection." []	EFO:0007059	"Germplasm is the living genetic resources such as seeds or tissue that is maintained for the purpose of animal and plant breeding, preservation, and other research uses. These resources may take the form of seed collections stored in seed banks, trees growing in nurseries, animal breeding lines maintained in animal breeding programs or gene banks, etc. Germplasm collections can range from collections of wild species to elite, domesticated breeding lines that have undergone extensive human selection." []	68308	\N	\N	EFO	0	EFO	germplasm	germplasm
OBI:0000181	EFO:0007059	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	EFO:0007059	"Germplasm is the living genetic resources such as seeds or tissue that is maintained for the purpose of animal and plant breeding, preservation, and other research uses. These resources may take the form of seed collections stored in seed banks, trees growing in nurseries, animal breeding lines maintained in animal breeding programs or gene banks, etc. Germplasm collections can range from collections of wild species to elite, domesticated breeding lines that have undergone extensive human selection." []	210338	\N	\N	EFO	1	EFO	population	germplasm
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007059	"Germplasm is the living genetic resources such as seeds or tissue that is maintained for the purpose of animal and plant breeding, preservation, and other research uses. These resources may take the form of seed collections stored in seed banks, trees growing in nurseries, animal breeding lines maintained in animal breeding programs or gene banks, etc. Germplasm collections can range from collections of wild species to elite, domesticated breeding lines that have undergone extensive human selection." []	563524	\N	\N	EFO	2	EFO	material entity	germplasm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007059	"Germplasm is the living genetic resources such as seeds or tissue that is maintained for the purpose of animal and plant breeding, preservation, and other research uses. These resources may take the form of seed collections stored in seed banks, trees growing in nurseries, animal breeding lines maintained in animal breeding programs or gene banks, etc. Germplasm collections can range from collections of wild species to elite, domesticated breeding lines that have undergone extensive human selection." []	1144739	\N	\N	EFO	3	EFO	experimental factor	germplasm
EFO:0007060	\N	\N	"Grade of adrenocortical carcinoma based on the scoring system of Weiss (Weiss LM. Comparative histologic study of 43 metastasizing and nonmetastasizing adrenocortical tumors. Am J Surg Pathol 1984;8:163-9.)" []	EFO:0007060	"Grade of adrenocortical carcinoma based on the scoring system of Weiss (Weiss LM. Comparative histologic study of 43 metastasizing and nonmetastasizing adrenocortical tumors. Am J Surg Pathol 1984;8:163-9.)" []	68309	\N	\N	EFO	0	EFO	Weiss grade	Weiss grade
OBI:0600002	EFO:0007060	\N	"Determination of the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus." []	EFO:0007060	"Grade of adrenocortical carcinoma based on the scoring system of Weiss (Weiss LM. Comparative histologic study of 43 metastasizing and nonmetastasizing adrenocortical tumors. Am J Surg Pathol 1984;8:163-9.)" []	210339	\N	\N	EFO	1	EFO	tumor grading	Weiss grade
EFO:0000410	OBI:0600002	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	EFO:0007060	"Grade of adrenocortical carcinoma based on the scoring system of Weiss (Weiss LM. Comparative histologic study of 43 metastasizing and nonmetastasizing adrenocortical tumors. Am J Surg Pathol 1984;8:163-9.)" []	563525	\N	\N	EFO	2	EFO	disease staging	Weiss grade
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007060	"Grade of adrenocortical carcinoma based on the scoring system of Weiss (Weiss LM. Comparative histologic study of 43 metastasizing and nonmetastasizing adrenocortical tumors. Am J Surg Pathol 1984;8:163-9.)" []	1144740	\N	\N	EFO	3	EFO	disposition	Weiss grade
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007060	"Grade of adrenocortical carcinoma based on the scoring system of Weiss (Weiss LM. Comparative histologic study of 43 metastasizing and nonmetastasizing adrenocortical tumors. Am J Surg Pathol 1984;8:163-9.)" []	2027309	\N	\N	EFO	4	EFO	material property	Weiss grade
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007060	"Grade of adrenocortical carcinoma based on the scoring system of Weiss (Weiss LM. Comparative histologic study of 43 metastasizing and nonmetastasizing adrenocortical tumors. Am J Surg Pathol 1984;8:163-9.)" []	3178830	\N	\N	EFO	5	EFO	experimental factor	Weiss grade
EFO:0007061	\N	\N	"The number of times a cell culture has been passaged (sub-cultured or split). " []	EFO:0007061	"The number of times a cell culture has been passaged (sub-cultured or split). " []	68310	\N	\N	EFO	0	EFO	passage number	passage number
EFO:0001444	EFO:0007061	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007061	"The number of times a cell culture has been passaged (sub-cultured or split). " []	210340	\N	\N	EFO	1	EFO	measurement	passage number
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007061	"The number of times a cell culture has been passaged (sub-cultured or split). " []	563526	\N	\N	EFO	2	EFO	information entity	passage number
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007061	"The number of times a cell culture has been passaged (sub-cultured or split). " []	1144741	\N	\N	EFO	3	EFO	experimental factor	passage number
EFO:0007062	\N	\N	"The mass of a tumor." []	EFO:0007062	"The mass of a tumor." []	68311	\N	\N	EFO	0	EFO	tumor mass	tumor mass
PATO:0000125	\N	\N	"A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter." [PATOC:GVG]	EFO:0007062	"The mass of a tumor." []	194858	\N	attribute_slim,relational_slim,scalar_slim	EFO	0	EFO	mass	tumor mass
EFO:0007063	\N	\N	"The stage premortem or postmortem at which the sample was processed for extraction of biomaterials. (from MGED ontology MO_871)." []	EFO:0007063	"The stage premortem or postmortem at which the sample was processed for extraction of biomaterials. (from MGED ontology MO_871)." []	68312	\N	\N	EFO	0	EFO	organism status	organism status
BFO:0000019	EFO:0007063	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007063	"The stage premortem or postmortem at which the sample was processed for extraction of biomaterials. (from MGED ontology MO_871)." []	210341	\N	\N	EFO	1	EFO	quality	organism status
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007063	"The stage premortem or postmortem at which the sample was processed for extraction of biomaterials. (from MGED ontology MO_871)." []	563527	\N	\N	EFO	2	EFO	material property	organism status
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007063	"The stage premortem or postmortem at which the sample was processed for extraction of biomaterials. (from MGED ontology MO_871)." []	1144742	\N	\N	EFO	3	EFO	experimental factor	organism status
EFO:0007064	\N	\N	"Any one of the major conceptual divisions of the eukaryotic cell cycle, based on characteristic cytological and biochemical events, that occur in the order G1 (Gap 1)-S (Synthesis)-G2 (Gap 2)-M (Mitosis) and lead to cell division." []	EFO:0007064	"Any one of the major conceptual divisions of the eukaryotic cell cycle, based on characteristic cytological and biochemical events, that occur in the order G1 (Gap 1)-S (Synthesis)-G2 (Gap 2)-M (Mitosis) and lead to cell division." []	68313	\N	\N	EFO	0	EFO	cell cycle phase	cell cycle phase
GO:0007049	\N	\N	"The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division." [GOC:go_curators, GOC:mtg_cell_cycle]	EFO:0007064	"Any one of the major conceptual divisions of the eukaryotic cell cycle, based on characteristic cytological and biochemical events, that occur in the order G1 (Gap 1)-S (Synthesis)-G2 (Gap 2)-M (Mitosis) and lead to cell division." []	194859	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_pir,goslim_plant,gosubset_prok	EFO	0	EFO	cell cycle	cell cycle phase
EFO:0007066	\N	\N	"Chronic skin ulceration is a common complication of diabetes, peripheral vascular disease, and disorders that decrease mobility. Local ulcer care will be successful only if the underlying cause is correctly identified and steps are taken to reverse it." []	EFO:0007066	"Chronic skin ulceration is a common complication of diabetes, peripheral vascular disease, and disorders that decrease mobility. Local ulcer care will be successful only if the underlying cause is correctly identified and steps are taken to reverse it." []	68314	\N	\N	EFO	0	EFO	chronic ulcer of skin	chronic ulcer of skin
HP:0200042	\N	\N	"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:skoehler]	EFO:0007066	"Chronic skin ulceration is a common complication of diabetes, peripheral vascular disease, and disorders that decrease mobility. Local ulcer care will be successful only if the underlying cause is correctly identified and steps are taken to reverse it." []	194860	\N	hposlim_core	EFO	0	EFO	Skin ulcer	chronic ulcer of skin
EFO:0007067	\N	\N	"Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure." []	EFO:0007067	"Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure." []	68315	\N	\N	EFO	0	EFO	decubitus ulcer	decubitus ulcer
EFO:0007066	EFO:0007067	\N	"Chronic skin ulceration is a common complication of diabetes, peripheral vascular disease, and disorders that decrease mobility. Local ulcer care will be successful only if the underlying cause is correctly identified and steps are taken to reverse it." []	EFO:0007067	"Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure." []	210342	\N	\N	EFO	1	EFO	chronic ulcer of skin	decubitus ulcer
EFO:0007068	\N	\N	"Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer." []	EFO:0007068	"Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer." []	68316	\N	\N	EFO	0	EFO	ulcer of lower limb	ulcer of lower limb
EFO:0007066	EFO:0007068	\N	"Chronic skin ulceration is a common complication of diabetes, peripheral vascular disease, and disorders that decrease mobility. Local ulcer care will be successful only if the underlying cause is correctly identified and steps are taken to reverse it." []	EFO:0007068	"Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer." []	210343	\N	\N	EFO	1	EFO	chronic ulcer of skin	ulcer of lower limb
EFO:0007069	\N	\N	"Mouse 3134 is a murine mammary adenocarcinoma cell line generated in Dr. Gordon Hagers laboratory at the National Institutes of Health, Bethesda, MD." []	EFO:0007069	"Mouse 3134 is a murine mammary adenocarcinoma cell line generated in Dr. Gordon Hagers laboratory at the National Institutes of Health, Bethesda, MD." []	68317	\N	\N	EFO	0	EFO	3134	3134
EFO:0000322	EFO:0007069	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007069	"Mouse 3134 is a murine mammary adenocarcinoma cell line generated in Dr. Gordon Hagers laboratory at the National Institutes of Health, Bethesda, MD." []	210344	\N	\N	EFO	1	EFO	cell line	3134
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007069	"Mouse 3134 is a murine mammary adenocarcinoma cell line generated in Dr. Gordon Hagers laboratory at the National Institutes of Health, Bethesda, MD." []	563528	\N	\N	EFO	2	EFO	material entity	3134
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007069	"Mouse 3134 is a murine mammary adenocarcinoma cell line generated in Dr. Gordon Hagers laboratory at the National Institutes of Health, Bethesda, MD." []	1144743	\N	\N	EFO	3	EFO	experimental factor	3134
EFO:0007070	\N	\N	"ACC112 was established from a salivary glad tumor of a 70-year-old male. Adenoid cystic carcinoma cell line supplied by Lurdes Queimado, M.D., Ph.D. Phone: 405-271-4232 (office); 405-271-4279 (lab); cells immortalized by infection with a retrovirus expressing HPV16 E6 and E7" []	EFO:0007070	"ACC112 was established from a salivary glad tumor of a 70-year-old male. Adenoid cystic carcinoma cell line supplied by Lurdes Queimado, M.D., Ph.D. Phone: 405-271-4232 (office); 405-271-4279 (lab); cells immortalized by infection with a retrovirus expressing HPV16 E6 and E7" []	68318	\N	\N	EFO	0	EFO	ACC112	ACC112
EFO:0001639	EFO:0007070	\N	"" []	EFO:0007070	"ACC112 was established from a salivary glad tumor of a 70-year-old male. Adenoid cystic carcinoma cell line supplied by Lurdes Queimado, M.D., Ph.D. Phone: 405-271-4232 (office); 405-271-4279 (lab); cells immortalized by infection with a retrovirus expressing HPV16 E6 and E7" []	210345	\N	\N	EFO	1	EFO	cancer cell line	ACC112
EFO:0001641	EFO:0007070	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0007070	"ACC112 was established from a salivary glad tumor of a 70-year-old male. Adenoid cystic carcinoma cell line supplied by Lurdes Queimado, M.D., Ph.D. Phone: 405-271-4232 (office); 405-271-4279 (lab); cells immortalized by infection with a retrovirus expressing HPV16 E6 and E7" []	210346	\N	\N	EFO	1	EFO	epithelial cell derived cell line	ACC112
EFO:0002888	EFO:0007070	\N	"" []	EFO:0007070	"ACC112 was established from a salivary glad tumor of a 70-year-old male. Adenoid cystic carcinoma cell line supplied by Lurdes Queimado, M.D., Ph.D. Phone: 405-271-4232 (office); 405-271-4279 (lab); cells immortalized by infection with a retrovirus expressing HPV16 E6 and E7" []	210347	\N	\N	EFO	1	EFO	Homo sapiens cell line	ACC112
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007070	"ACC112 was established from a salivary glad tumor of a 70-year-old male. Adenoid cystic carcinoma cell line supplied by Lurdes Queimado, M.D., Ph.D. Phone: 405-271-4232 (office); 405-271-4279 (lab); cells immortalized by infection with a retrovirus expressing HPV16 E6 and E7" []	563529	\N	\N	EFO	2	EFO	cell line	ACC112
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007070	"ACC112 was established from a salivary glad tumor of a 70-year-old male. Adenoid cystic carcinoma cell line supplied by Lurdes Queimado, M.D., Ph.D. Phone: 405-271-4232 (office); 405-271-4279 (lab); cells immortalized by infection with a retrovirus expressing HPV16 E6 and E7" []	563530	\N	\N	EFO	2	EFO	cell line	ACC112
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007070	"ACC112 was established from a salivary glad tumor of a 70-year-old male. Adenoid cystic carcinoma cell line supplied by Lurdes Queimado, M.D., Ph.D. Phone: 405-271-4232 (office); 405-271-4279 (lab); cells immortalized by infection with a retrovirus expressing HPV16 E6 and E7" []	563531	\N	\N	EFO	2	EFO	cell line	ACC112
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007070	"ACC112 was established from a salivary glad tumor of a 70-year-old male. Adenoid cystic carcinoma cell line supplied by Lurdes Queimado, M.D., Ph.D. Phone: 405-271-4232 (office); 405-271-4279 (lab); cells immortalized by infection with a retrovirus expressing HPV16 E6 and E7" []	1144744	\N	\N	EFO	3	EFO	material entity	ACC112
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007070	"ACC112 was established from a salivary glad tumor of a 70-year-old male. Adenoid cystic carcinoma cell line supplied by Lurdes Queimado, M.D., Ph.D. Phone: 405-271-4232 (office); 405-271-4279 (lab); cells immortalized by infection with a retrovirus expressing HPV16 E6 and E7" []	2027310	\N	\N	EFO	4	EFO	experimental factor	ACC112
EFO:0007071	\N	\N	"The hES line BG01 with a normal 46XY karyotype was derived from fibroblasts of an embryonic male human." []	EFO:0007071	"The hES line BG01 with a normal 46XY karyotype was derived from fibroblasts of an embryonic male human." []	68319	\N	\N	EFO	0	EFO	BG01	BG01
EFO:0002888	EFO:0007071	\N	"" []	EFO:0007071	"The hES line BG01 with a normal 46XY karyotype was derived from fibroblasts of an embryonic male human." []	210348	\N	\N	EFO	1	EFO	Homo sapiens cell line	BG01
EFO:0003040	EFO:0007071	\N	"" []	EFO:0007071	"The hES line BG01 with a normal 46XY karyotype was derived from fibroblasts of an embryonic male human." []	210349	\N	\N	EFO	1	EFO	embryonic cell line	BG01
EFO:0005738	EFO:0007071	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007071	"The hES line BG01 with a normal 46XY karyotype was derived from fibroblasts of an embryonic male human." []	210350	\N	\N	EFO	1	EFO	ESC derived cell line	BG01
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007071	"The hES line BG01 with a normal 46XY karyotype was derived from fibroblasts of an embryonic male human." []	563532	\N	\N	EFO	2	EFO	cell line	BG01
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007071	"The hES line BG01 with a normal 46XY karyotype was derived from fibroblasts of an embryonic male human." []	563533	\N	\N	EFO	2	EFO	cell line	BG01
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007071	"The hES line BG01 with a normal 46XY karyotype was derived from fibroblasts of an embryonic male human." []	563534	\N	\N	EFO	2	EFO	stem cell derived cell line	BG01
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007071	"The hES line BG01 with a normal 46XY karyotype was derived from fibroblasts of an embryonic male human." []	2027312	\N	\N	EFO	4	EFO	material entity	BG01
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007071	"The hES line BG01 with a normal 46XY karyotype was derived from fibroblasts of an embryonic male human." []	1144746	\N	\N	EFO	3	EFO	cell line	BG01
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007071	"The hES line BG01 with a normal 46XY karyotype was derived from fibroblasts of an embryonic male human." []	2999813	\N	\N	EFO	5	EFO	experimental factor	BG01
EFO:0007072	\N	\N	"A B-lymphoblastoid cell line derived from a randomly selected Caucasian blood donor whose parents and grandparents were born in the UK or Ireland. The cell line was generated by Epstein-Barr Virus (EBV) transformation of peripheral blood lymphocytes. This cell line is part of the European Collection of Cell Cultures (ECACC) Human Random Control (HRC) collection." []	EFO:0007072	"A B-lymphoblastoid cell line derived from a randomly selected Caucasian blood donor whose parents and grandparents were born in the UK or Ireland. The cell line was generated by Epstein-Barr Virus (EBV) transformation of peripheral blood lymphocytes. This cell line is part of the European Collection of Cell Cultures (ECACC) Human Random Control (HRC) collection." []	68320	\N	\N	EFO	0	EFO	C0202	C0202
EFO:0005292	EFO:0007072	\N	"" []	EFO:0007072	"A B-lymphoblastoid cell line derived from a randomly selected Caucasian blood donor whose parents and grandparents were born in the UK or Ireland. The cell line was generated by Epstein-Barr Virus (EBV) transformation of peripheral blood lymphocytes. This cell line is part of the European Collection of Cell Cultures (ECACC) Human Random Control (HRC) collection." []	210351	\N	\N	EFO	1	EFO	lymphoblastoid cell line	C0202
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007072	"A B-lymphoblastoid cell line derived from a randomly selected Caucasian blood donor whose parents and grandparents were born in the UK or Ireland. The cell line was generated by Epstein-Barr Virus (EBV) transformation of peripheral blood lymphocytes. This cell line is part of the European Collection of Cell Cultures (ECACC) Human Random Control (HRC) collection." []	563535	\N	\N	EFO	2	EFO	cell line	C0202
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007072	"A B-lymphoblastoid cell line derived from a randomly selected Caucasian blood donor whose parents and grandparents were born in the UK or Ireland. The cell line was generated by Epstein-Barr Virus (EBV) transformation of peripheral blood lymphocytes. This cell line is part of the European Collection of Cell Cultures (ECACC) Human Random Control (HRC) collection." []	1144747	\N	\N	EFO	3	EFO	material entity	C0202
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007072	"A B-lymphoblastoid cell line derived from a randomly selected Caucasian blood donor whose parents and grandparents were born in the UK or Ireland. The cell line was generated by Epstein-Barr Virus (EBV) transformation of peripheral blood lymphocytes. This cell line is part of the European Collection of Cell Cultures (ECACC) Human Random Control (HRC) collection." []	2027313	\N	\N	EFO	4	EFO	experimental factor	C0202
EFO:0007073	\N	\N	"This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041." []	EFO:0007073	"This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041." []	68321	\N	\N	EFO	0	EFO	CyT49	CyT49
EFO:0002888	EFO:0007073	\N	"" []	EFO:0007073	"This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041." []	210352	\N	\N	EFO	1	EFO	Homo sapiens cell line	CyT49
EFO:0003040	EFO:0007073	\N	"" []	EFO:0007073	"This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041." []	210353	\N	\N	EFO	1	EFO	embryonic cell line	CyT49
EFO:0005738	EFO:0007073	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007073	"This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041." []	210354	\N	\N	EFO	1	EFO	ESC derived cell line	CyT49
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007073	"This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041." []	563536	\N	\N	EFO	2	EFO	cell line	CyT49
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007073	"This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041." []	563537	\N	\N	EFO	2	EFO	cell line	CyT49
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007073	"This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041." []	563538	\N	\N	EFO	2	EFO	stem cell derived cell line	CyT49
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007073	"This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041." []	2027315	\N	\N	EFO	4	EFO	material entity	CyT49
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007073	"This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041." []	1144749	\N	\N	EFO	3	EFO	cell line	CyT49
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007073	"This hESC line was isolated using human feeder cells under good manufacturing process (GMP) conditions. NIH registration: 0041." []	2999814	\N	\N	EFO	5	EFO	experimental factor	CyT49
EFO:0007074	\N	\N	"DND-41 was established from the peripheral blood of 13-year-old boy with T-acute lymphoblastic leukemia (T-ALL; type III cortical) in 1977; described to carry CDKN2B (p15INK4B) and CDKN2A (p16INK4A) deletions and TP53 (p53)mutation." []	EFO:0007074	"DND-41 was established from the peripheral blood of 13-year-old boy with T-acute lymphoblastic leukemia (T-ALL; type III cortical) in 1977; described to carry CDKN2B (p15INK4B) and CDKN2A (p16INK4A) deletions and TP53 (p53)mutation." []	68322	\N	\N	EFO	0	EFO	DND-41	DND-41
EFO:0001639	EFO:0007074	\N	"" []	EFO:0007074	"DND-41 was established from the peripheral blood of 13-year-old boy with T-acute lymphoblastic leukemia (T-ALL; type III cortical) in 1977; described to carry CDKN2B (p15INK4B) and CDKN2A (p16INK4A) deletions and TP53 (p53)mutation." []	210355	\N	\N	EFO	1	EFO	cancer cell line	DND-41
EFO:0002888	EFO:0007074	\N	"" []	EFO:0007074	"DND-41 was established from the peripheral blood of 13-year-old boy with T-acute lymphoblastic leukemia (T-ALL; type III cortical) in 1977; described to carry CDKN2B (p15INK4B) and CDKN2A (p16INK4A) deletions and TP53 (p53)mutation." []	210356	\N	\N	EFO	1	EFO	Homo sapiens cell line	DND-41
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007074	"DND-41 was established from the peripheral blood of 13-year-old boy with T-acute lymphoblastic leukemia (T-ALL; type III cortical) in 1977; described to carry CDKN2B (p15INK4B) and CDKN2A (p16INK4A) deletions and TP53 (p53)mutation." []	563539	\N	\N	EFO	2	EFO	cell line	DND-41
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007074	"DND-41 was established from the peripheral blood of 13-year-old boy with T-acute lymphoblastic leukemia (T-ALL; type III cortical) in 1977; described to carry CDKN2B (p15INK4B) and CDKN2A (p16INK4A) deletions and TP53 (p53)mutation." []	563540	\N	\N	EFO	2	EFO	cell line	DND-41
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007074	"DND-41 was established from the peripheral blood of 13-year-old boy with T-acute lymphoblastic leukemia (T-ALL; type III cortical) in 1977; described to carry CDKN2B (p15INK4B) and CDKN2A (p16INK4A) deletions and TP53 (p53)mutation." []	1144750	\N	\N	EFO	3	EFO	material entity	DND-41
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007074	"DND-41 was established from the peripheral blood of 13-year-old boy with T-acute lymphoblastic leukemia (T-ALL; type III cortical) in 1977; described to carry CDKN2B (p15INK4B) and CDKN2A (p16INK4A) deletions and TP53 (p53)mutation." []	2027316	\N	\N	EFO	4	EFO	experimental factor	DND-41
EFO:0007075	\N	\N	"Mouse embryonic stem cell line E14." []	EFO:0007075	"Mouse embryonic stem cell line E14." []	68323	\N	\N	EFO	0	EFO	ES-E14	ES-E14
EFO:0002887	EFO:0007075	\N	"Cell lines derived from mice." []	EFO:0007075	"Mouse embryonic stem cell line E14." []	210357	\N	\N	EFO	1	EFO	mouse cell line	ES-E14
EFO:0003040	EFO:0007075	\N	"" []	EFO:0007075	"Mouse embryonic stem cell line E14." []	210358	\N	\N	EFO	1	EFO	embryonic cell line	ES-E14
EFO:0005738	EFO:0007075	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007075	"Mouse embryonic stem cell line E14." []	210359	\N	\N	EFO	1	EFO	ESC derived cell line	ES-E14
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007075	"Mouse embryonic stem cell line E14." []	563541	\N	\N	EFO	2	EFO	cell line	ES-E14
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007075	"Mouse embryonic stem cell line E14." []	563542	\N	\N	EFO	2	EFO	cell line	ES-E14
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007075	"Mouse embryonic stem cell line E14." []	563543	\N	\N	EFO	2	EFO	stem cell derived cell line	ES-E14
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007075	"Mouse embryonic stem cell line E14." []	2027318	\N	\N	EFO	4	EFO	material entity	ES-E14
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007075	"Mouse embryonic stem cell line E14." []	1144752	\N	\N	EFO	3	EFO	cell line	ES-E14
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007075	"Mouse embryonic stem cell line E14." []	2999815	\N	\N	EFO	5	EFO	experimental factor	ES-E14
EFO:0007076	\N	\N	"The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium." []	EFO:0007076	"The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium." []	68324	\N	\N	EFO	0	EFO	ES-I3	ES-I3
EFO:0002888	EFO:0007076	\N	"" []	EFO:0007076	"The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium." []	210360	\N	\N	EFO	1	EFO	Homo sapiens cell line	ES-I3
EFO:0003040	EFO:0007076	\N	"" []	EFO:0007076	"The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium." []	210361	\N	\N	EFO	1	EFO	embryonic cell line	ES-I3
EFO:0005738	EFO:0007076	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007076	"The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium." []	210362	\N	\N	EFO	1	EFO	ESC derived cell line	ES-I3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007076	"The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium." []	563544	\N	\N	EFO	2	EFO	cell line	ES-I3
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007076	"The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium." []	563545	\N	\N	EFO	2	EFO	cell line	ES-I3
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007076	"The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium." []	563546	\N	\N	EFO	2	EFO	stem cell derived cell line	ES-I3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007076	"The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium." []	2027320	\N	\N	EFO	4	EFO	material entity	ES-I3
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007076	"The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium." []	1144754	\N	\N	EFO	3	EFO	cell line	ES-I3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007076	"The I3 stem cell line was derived from donated blastocysts by removal of the trophoblast layer and further culturing of the intact inner cell mass on mitotically inactivated mouse embryonic fibroblast (MEF) feeder cells. Following injection into SCID mice, the I3 line formed teratomas that contained tissues from all three embryonic germ layers. This line exhibits a normal XX karyotype. These cells were provided by Alex Meissner and maintained in mTeSR medium." []	2999816	\N	\N	EFO	5	EFO	experimental factor	ES-I3
EFO:0007077	\N	\N	"Lymphoblastoid cells taken from the blood of a female human." []	EFO:0007077	"Lymphoblastoid cells taken from the blood of a female human." []	68325	\N	\N	EFO	0	EFO	GM06999	GM06999
EFO:0005292	EFO:0007077	\N	"" []	EFO:0007077	"Lymphoblastoid cells taken from the blood of a female human." []	210363	\N	\N	EFO	1	EFO	lymphoblastoid cell line	GM06999
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007077	"Lymphoblastoid cells taken from the blood of a female human." []	563547	\N	\N	EFO	2	EFO	cell line	GM06999
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007077	"Lymphoblastoid cells taken from the blood of a female human." []	1144755	\N	\N	EFO	3	EFO	material entity	GM06999
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007077	"Lymphoblastoid cells taken from the blood of a female human." []	2027321	\N	\N	EFO	4	EFO	experimental factor	GM06999
EFO:0007078	\N	\N	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	EFO:0007078	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	68326	\N	\N	EFO	0	EFO	HUES13	HUES13
EFO:0002888	EFO:0007078	\N	"" []	EFO:0007078	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	210364	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES13
EFO:0003040	EFO:0007078	\N	"" []	EFO:0007078	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	210365	\N	\N	EFO	1	EFO	embryonic cell line	HUES13
EFO:0005738	EFO:0007078	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007078	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	210366	\N	\N	EFO	1	EFO	ESC derived cell line	HUES13
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007078	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	563548	\N	\N	EFO	2	EFO	cell line	HUES13
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007078	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	563549	\N	\N	EFO	2	EFO	cell line	HUES13
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007078	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	563550	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES13
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007078	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	2027323	\N	\N	EFO	4	EFO	material entity	HUES13
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007078	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	1144757	\N	\N	EFO	3	EFO	cell line	HUES13
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007078	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	2999817	\N	\N	EFO	5	EFO	experimental factor	HUES13
EFO:0007079	\N	\N	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007079	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	68327	\N	\N	EFO	0	EFO	HUES28	HUES28
EFO:0002888	EFO:0007079	\N	"" []	EFO:0007079	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210367	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES28
EFO:0003040	EFO:0007079	\N	"" []	EFO:0007079	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210368	\N	\N	EFO	1	EFO	embryonic cell line	HUES28
EFO:0005738	EFO:0007079	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007079	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210369	\N	\N	EFO	1	EFO	ESC derived cell line	HUES28
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007079	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563551	\N	\N	EFO	2	EFO	cell line	HUES28
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007079	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563552	\N	\N	EFO	2	EFO	cell line	HUES28
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007079	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563553	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES28
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007079	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2027325	\N	\N	EFO	4	EFO	material entity	HUES28
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007079	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	1144759	\N	\N	EFO	3	EFO	cell line	HUES28
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007079	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vivo (teratoma). The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [PMCID: PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2999818	\N	\N	EFO	5	EFO	experimental factor	HUES28
EFO:0007080	\N	\N	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007080	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	68328	\N	\N	EFO	0	EFO	HUES3	HUES3
EFO:0002888	EFO:0007080	\N	"" []	EFO:0007080	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	210370	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES3
EFO:0003040	EFO:0007080	\N	"" []	EFO:0007080	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	210371	\N	\N	EFO	1	EFO	embryonic cell line	HUES3
EFO:0005738	EFO:0007080	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007080	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	210372	\N	\N	EFO	1	EFO	ESC derived cell line	HUES3
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007080	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	563554	\N	\N	EFO	2	EFO	cell line	HUES3
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007080	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	563555	\N	\N	EFO	2	EFO	cell line	HUES3
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007080	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	563556	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES3
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007080	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	2027327	\N	\N	EFO	4	EFO	material entity	HUES3
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007080	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	1144761	\N	\N	EFO	3	EFO	cell line	HUES3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007080	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	2999819	\N	\N	EFO	5	EFO	experimental factor	HUES3
EFO:0007081	\N	\N	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	EFO:0007081	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	68329	\N	\N	EFO	0	EFO	HUES44	HUES44
EFO:0002888	EFO:0007081	\N	"" []	EFO:0007081	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	210373	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES44
EFO:0003040	EFO:0007081	\N	"" []	EFO:0007081	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	210374	\N	\N	EFO	1	EFO	embryonic cell line	HUES44
EFO:0005738	EFO:0007081	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007081	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	210375	\N	\N	EFO	1	EFO	ESC derived cell line	HUES44
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007081	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	563557	\N	\N	EFO	2	EFO	cell line	HUES44
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007081	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	563558	\N	\N	EFO	2	EFO	cell line	HUES44
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007081	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	563559	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES44
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007081	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	2027329	\N	\N	EFO	4	EFO	material entity	HUES44
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007081	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	1144763	\N	\N	EFO	3	EFO	cell line	HUES44
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007081	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	2999820	\N	\N	EFO	5	EFO	experimental factor	HUES44
EFO:0007082	\N	\N	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	EFO:0007082	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	68330	\N	\N	EFO	0	EFO	HUES45	HUES45
EFO:0002888	EFO:0007082	\N	"" []	EFO:0007082	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	210376	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES45
EFO:0003040	EFO:0007082	\N	"" []	EFO:0007082	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	210377	\N	\N	EFO	1	EFO	embryonic cell line	HUES45
EFO:0005738	EFO:0007082	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007082	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	210378	\N	\N	EFO	1	EFO	ESC derived cell line	HUES45
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007082	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	563560	\N	\N	EFO	2	EFO	cell line	HUES45
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007082	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	563561	\N	\N	EFO	2	EFO	cell line	HUES45
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007082	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	563562	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES45
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007082	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	2027331	\N	\N	EFO	4	EFO	material entity	HUES45
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007082	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	1144765	\N	\N	EFO	3	EFO	cell line	HUES45
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007082	"Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium." []	2999821	\N	\N	EFO	5	EFO	experimental factor	HUES45
EFO:0007083	\N	\N	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007083	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	68331	\N	\N	EFO	0	EFO	HUES48	HUES48
EFO:0002888	EFO:0007083	\N	"" []	EFO:0007083	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210379	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES48
EFO:0003040	EFO:0007083	\N	"" []	EFO:0007083	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210380	\N	\N	EFO	1	EFO	embryonic cell line	HUES48
EFO:0005738	EFO:0007083	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007083	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210381	\N	\N	EFO	1	EFO	ESC derived cell line	HUES48
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007083	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563563	\N	\N	EFO	2	EFO	cell line	HUES48
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007083	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563564	\N	\N	EFO	2	EFO	cell line	HUES48
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007083	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563565	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES48
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007083	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2027333	\N	\N	EFO	4	EFO	material entity	HUES48
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007083	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	1144767	\N	\N	EFO	3	EFO	cell line	HUES48
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007083	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-81. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2999822	\N	\N	EFO	5	EFO	experimental factor	HUES48
EFO:0007084	\N	\N	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007084	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	68332	\N	\N	EFO	0	EFO	HUES49	HUES49
EFO:0002888	EFO:0007084	\N	"" []	EFO:0007084	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210382	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES49
EFO:0003040	EFO:0007084	\N	"" []	EFO:0007084	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210383	\N	\N	EFO	1	EFO	embryonic cell line	HUES49
EFO:0005738	EFO:0007084	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007084	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210384	\N	\N	EFO	1	EFO	ESC derived cell line	HUES49
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007084	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563566	\N	\N	EFO	2	EFO	cell line	HUES49
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007084	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563567	\N	\N	EFO	2	EFO	cell line	HUES49
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007084	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563568	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES49
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007084	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2027335	\N	\N	EFO	4	EFO	material entity	HUES49
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007084	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	1144769	\N	\N	EFO	3	EFO	cell line	HUES49
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007084	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2999823	\N	\N	EFO	5	EFO	experimental factor	HUES49
EFO:0007085	\N	\N	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007085	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	68333	\N	\N	EFO	0	EFO	HUES53	HUES53
EFO:0002888	EFO:0007085	\N	"" []	EFO:0007085	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210385	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES53
EFO:0003040	EFO:0007085	\N	"" []	EFO:0007085	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210386	\N	\N	EFO	1	EFO	embryonic cell line	HUES53
EFO:0005738	EFO:0007085	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007085	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210387	\N	\N	EFO	1	EFO	ESC derived cell line	HUES53
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007085	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563569	\N	\N	EFO	2	EFO	cell line	HUES53
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007085	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563570	\N	\N	EFO	2	EFO	cell line	HUES53
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007085	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563571	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES53
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007085	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2027337	\N	\N	EFO	4	EFO	material entity	HUES53
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007085	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	1144771	\N	\N	EFO	3	EFO	cell line	HUES53
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007085	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, TRA1-60, TRA1-81 and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2999824	\N	\N	EFO	5	EFO	experimental factor	HUES53
EFO:0007086	\N	\N	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007086	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	68334	\N	\N	EFO	0	EFO	HUES6	HUES6
EFO:0002888	EFO:0007086	\N	"" []	EFO:0007086	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	210388	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES6
EFO:0003040	EFO:0007086	\N	"" []	EFO:0007086	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	210389	\N	\N	EFO	1	EFO	embryonic cell line	HUES6
EFO:0005738	EFO:0007086	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007086	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	210390	\N	\N	EFO	1	EFO	ESC derived cell line	HUES6
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007086	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	563572	\N	\N	EFO	2	EFO	cell line	HUES6
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007086	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	563573	\N	\N	EFO	2	EFO	cell line	HUES6
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007086	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	563574	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES6
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007086	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	2027339	\N	\N	EFO	4	EFO	material entity	HUES6
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007086	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	1144773	\N	\N	EFO	3	EFO	cell line	HUES6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007086	"Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	2999825	\N	\N	EFO	5	EFO	experimental factor	HUES6
EFO:0007087	\N	\N	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007087	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	68335	\N	\N	EFO	0	EFO	HUES62	HUES62
EFO:0002888	EFO:0007087	\N	"" []	EFO:0007087	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210391	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES62
EFO:0003040	EFO:0007087	\N	"" []	EFO:0007087	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210392	\N	\N	EFO	1	EFO	embryonic cell line	HUES62
EFO:0005738	EFO:0007087	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007087	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210393	\N	\N	EFO	1	EFO	ESC derived cell line	HUES62
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007087	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563575	\N	\N	EFO	2	EFO	cell line	HUES62
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007087	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563576	\N	\N	EFO	2	EFO	cell line	HUES62
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007087	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563577	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES62
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007087	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2027341	\N	\N	EFO	4	EFO	material entity	HUES62
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007087	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	1144775	\N	\N	EFO	3	EFO	cell line	HUES62
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007087	"Human embryonic stem cell line with a normal 46XX karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2999826	\N	\N	EFO	5	EFO	experimental factor	HUES62
EFO:0007088	\N	\N	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007088	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	68336	\N	\N	EFO	0	EFO	HUES63	HUES63
EFO:0002888	EFO:0007088	\N	"" []	EFO:0007088	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210394	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES63
EFO:0003040	EFO:0007088	\N	"" []	EFO:0007088	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210395	\N	\N	EFO	1	EFO	embryonic cell line	HUES63
EFO:0005738	EFO:0007088	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007088	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210396	\N	\N	EFO	1	EFO	ESC derived cell line	HUES63
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007088	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563578	\N	\N	EFO	2	EFO	cell line	HUES63
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007088	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563579	\N	\N	EFO	2	EFO	cell line	HUES63
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007088	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563580	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES63
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007088	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2027343	\N	\N	EFO	4	EFO	material entity	HUES63
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007088	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	1144777	\N	\N	EFO	3	EFO	cell line	HUES63
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007088	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2999827	\N	\N	EFO	5	EFO	experimental factor	HUES63
EFO:0007089	\N	\N	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007089	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	68337	\N	\N	EFO	0	EFO	HUES64	HUES64
EFO:0002888	EFO:0007089	\N	"" []	EFO:0007089	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210397	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES64
EFO:0003040	EFO:0007089	\N	"" []	EFO:0007089	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210398	\N	\N	EFO	1	EFO	embryonic cell line	HUES64
EFO:0005738	EFO:0007089	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007089	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210399	\N	\N	EFO	1	EFO	ESC derived cell line	HUES64
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007089	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563581	\N	\N	EFO	2	EFO	cell line	HUES64
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007089	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563582	\N	\N	EFO	2	EFO	cell line	HUES64
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007089	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563583	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES64
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007089	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2027345	\N	\N	EFO	4	EFO	material entity	HUES64
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007089	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	1144779	\N	\N	EFO	3	EFO	cell line	HUES64
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007089	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2999828	\N	\N	EFO	5	EFO	experimental factor	HUES64
EFO:0007090	\N	\N	"HUES64 cells were differentiated into CD184+ endothelial cells in feeder free conditions, using RPMI containing 100ng/mL of Activin A and 50ng/mL of Wnt3a, for 5 days. On day 5, the CD184 positive population was sorted via FACS. Cells come from a healthy male embryo provided by Harvard University." []	EFO:0007090	"HUES64 cells were differentiated into CD184+ endothelial cells in feeder free conditions, using RPMI containing 100ng/mL of Activin A and 50ng/mL of Wnt3a, for 5 days. On day 5, the CD184 positive population was sorted via FACS. Cells come from a healthy male embryo provided by Harvard University." []	68338	\N	\N	EFO	0	EFO	HUES64-derived CD184+	HUES64-derived CD184+
EFO:0005730	EFO:0007090	\N	"An endothelial cell derived cell line is defined as a cell line that derives from an endothelial cell." []	EFO:0007090	"HUES64 cells were differentiated into CD184+ endothelial cells in feeder free conditions, using RPMI containing 100ng/mL of Activin A and 50ng/mL of Wnt3a, for 5 days. On day 5, the CD184 positive population was sorted via FACS. Cells come from a healthy male embryo provided by Harvard University." []	210400	\N	\N	EFO	1	EFO	endothelial cell derived cell line	HUES64-derived CD184+
EFO:0000322	EFO:0005730	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007090	"HUES64 cells were differentiated into CD184+ endothelial cells in feeder free conditions, using RPMI containing 100ng/mL of Activin A and 50ng/mL of Wnt3a, for 5 days. On day 5, the CD184 positive population was sorted via FACS. Cells come from a healthy male embryo provided by Harvard University." []	563584	\N	\N	EFO	2	EFO	cell line	HUES64-derived CD184+
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007090	"HUES64 cells were differentiated into CD184+ endothelial cells in feeder free conditions, using RPMI containing 100ng/mL of Activin A and 50ng/mL of Wnt3a, for 5 days. On day 5, the CD184 positive population was sorted via FACS. Cells come from a healthy male embryo provided by Harvard University." []	1144780	\N	\N	EFO	3	EFO	material entity	HUES64-derived CD184+
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007090	"HUES64 cells were differentiated into CD184+ endothelial cells in feeder free conditions, using RPMI containing 100ng/mL of Activin A and 50ng/mL of Wnt3a, for 5 days. On day 5, the CD184 positive population was sorted via FACS. Cells come from a healthy male embryo provided by Harvard University." []	2027346	\N	\N	EFO	4	EFO	experimental factor	HUES64-derived CD184+
EFO:0007091	\N	\N	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007091	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	68339	\N	\N	EFO	0	EFO	HUES65	HUES65
EFO:0002888	EFO:0007091	\N	"" []	EFO:0007091	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210401	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES65
EFO:0003040	EFO:0007091	\N	"" []	EFO:0007091	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210402	\N	\N	EFO	1	EFO	embryonic cell line	HUES65
EFO:0005738	EFO:0007091	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007091	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210403	\N	\N	EFO	1	EFO	ESC derived cell line	HUES65
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007091	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563585	\N	\N	EFO	2	EFO	cell line	HUES65
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007091	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563586	\N	\N	EFO	2	EFO	cell line	HUES65
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007091	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563587	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES65
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007091	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2027348	\N	\N	EFO	4	EFO	material entity	HUES65
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007091	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	1144782	\N	\N	EFO	3	EFO	cell line	HUES65
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007091	"Human embryonic stem cell line with a normal 46XY karyotype. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, and NANOG. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2999829	\N	\N	EFO	5	EFO	experimental factor	HUES65
EFO:0007092	\N	\N	"Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007092	"Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	68340	\N	\N	EFO	0	EFO	HUES66	HUES66
EFO:0002888	EFO:0007092	\N	"" []	EFO:0007092	"Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210404	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES66
EFO:0003040	EFO:0007092	\N	"" []	EFO:0007092	"Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210405	\N	\N	EFO	1	EFO	embryonic cell line	HUES66
EFO:0005738	EFO:0007092	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007092	"Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	210406	\N	\N	EFO	1	EFO	ESC derived cell line	HUES66
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007092	"Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563588	\N	\N	EFO	2	EFO	cell line	HUES66
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007092	"Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563589	\N	\N	EFO	2	EFO	cell line	HUES66
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007092	"Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	563590	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES66
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007092	"Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2027350	\N	\N	EFO	4	EFO	material entity	HUES66
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007092	"Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	1144784	\N	\N	EFO	3	EFO	cell line	HUES66
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007092	"Human embryonic stem cell line derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including OCT4, NANOG, and TRA-1-60. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on KSR medium." []	2999830	\N	\N	EFO	5	EFO	experimental factor	HUES66
EFO:0007093	\N	\N	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007093	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	68341	\N	\N	EFO	0	EFO	HUES8	HUES8
EFO:0002888	EFO:0007093	\N	"" []	EFO:0007093	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	210407	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES8
EFO:0003040	EFO:0007093	\N	"" []	EFO:0007093	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	210408	\N	\N	EFO	1	EFO	embryonic cell line	HUES8
EFO:0005738	EFO:0007093	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007093	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	210409	\N	\N	EFO	1	EFO	ESC derived cell line	HUES8
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007093	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	563591	\N	\N	EFO	2	EFO	cell line	HUES8
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007093	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	563592	\N	\N	EFO	2	EFO	cell line	HUES8
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007093	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	563593	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007093	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	2027352	\N	\N	EFO	4	EFO	material entity	HUES8
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007093	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	1144786	\N	\N	EFO	3	EFO	cell line	HUES8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007093	"Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	2999831	\N	\N	EFO	5	EFO	experimental factor	HUES8
EFO:0007094	\N	\N	"Human embryonic stem cell line with an abnormal 46XX, Inv9 karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007094	"Human embryonic stem cell line with an abnormal 46XX, Inv9 karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	68342	\N	\N	EFO	0	EFO	HUES9	HUES9
EFO:0002888	EFO:0007094	\N	"" []	EFO:0007094	"Human embryonic stem cell line with an abnormal 46XX, Inv9 karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	210410	\N	\N	EFO	1	EFO	Homo sapiens cell line	HUES9
EFO:0003040	EFO:0007094	\N	"" []	EFO:0007094	"Human embryonic stem cell line with an abnormal 46XX, Inv9 karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	210411	\N	\N	EFO	1	EFO	embryonic cell line	HUES9
EFO:0005738	EFO:0007094	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007094	"Human embryonic stem cell line with an abnormal 46XX, Inv9 karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	210412	\N	\N	EFO	1	EFO	ESC derived cell line	HUES9
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007094	"Human embryonic stem cell line with an abnormal 46XX, Inv9 karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	563594	\N	\N	EFO	2	EFO	cell line	HUES9
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007094	"Human embryonic stem cell line with an abnormal 46XX, Inv9 karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	563595	\N	\N	EFO	2	EFO	cell line	HUES9
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007094	"Human embryonic stem cell line with an abnormal 46XX, Inv9 karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	563596	\N	\N	EFO	2	EFO	stem cell derived cell line	HUES9
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007094	"Human embryonic stem cell line with an abnormal 46XX, Inv9 karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	2027354	\N	\N	EFO	4	EFO	material entity	HUES9
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007094	"Human embryonic stem cell line with an abnormal 46XX, Inv9 karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	1144788	\N	\N	EFO	3	EFO	cell line	HUES9
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007094	"Human embryonic stem cell line with an abnormal 46XX, Inv9 karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium." []	2999832	\N	\N	EFO	5	EFO	experimental factor	HUES9
EFO:0007095	\N	\N	"IPS DF 19.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" []	EFO:0007095	"IPS DF 19.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" []	68343	\N	\N	EFO	0	EFO	iPS DF 19.7	iPS DF 19.7
EFO:0000322	EFO:0007095	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007095	"IPS DF 19.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" []	210413	\N	\N	EFO	1	EFO	cell line	iPS DF 19.7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007095	"IPS DF 19.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" []	563597	\N	\N	EFO	2	EFO	material entity	iPS DF 19.7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007095	"IPS DF 19.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" []	1144789	\N	\N	EFO	3	EFO	experimental factor	iPS DF 19.7
EFO:0007096	\N	\N	"Human induced pluripotent stem cell line line derived from foreskin fibroblasts, isolated as described by Yu, J. et al. Human induced pluripotent stem cell lines free of vector and transgene sequences. Science 324, 797-801 (2009). Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC. The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. Cells were maintained on mTeSR medium." []	EFO:0007096	"Human induced pluripotent stem cell line line derived from foreskin fibroblasts, isolated as described by Yu, J. et al. Human induced pluripotent stem cell lines free of vector and transgene sequences. Science 324, 797-801 (2009). Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC. The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. Cells were maintained on mTeSR medium." []	68344	\N	\N	EFO	0	EFO	iPS DF 19.11	iPS DF 19.11
EFO:0000322	EFO:0007096	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007096	"Human induced pluripotent stem cell line line derived from foreskin fibroblasts, isolated as described by Yu, J. et al. Human induced pluripotent stem cell lines free of vector and transgene sequences. Science 324, 797-801 (2009). Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC. The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. Cells were maintained on mTeSR medium." []	210414	\N	\N	EFO	1	EFO	cell line	iPS DF 19.11
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007096	"Human induced pluripotent stem cell line line derived from foreskin fibroblasts, isolated as described by Yu, J. et al. Human induced pluripotent stem cell lines free of vector and transgene sequences. Science 324, 797-801 (2009). Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC. The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. Cells were maintained on mTeSR medium." []	563598	\N	\N	EFO	2	EFO	material entity	iPS DF 19.11
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007096	"Human induced pluripotent stem cell line line derived from foreskin fibroblasts, isolated as described by Yu, J. et al. Human induced pluripotent stem cell lines free of vector and transgene sequences. Science 324, 797-801 (2009). Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC. The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. Cells were maintained on mTeSR medium." []	1144790	\N	\N	EFO	3	EFO	experimental factor	iPS DF 19.11
EFO:0007097	\N	\N	"IPS DF 4.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" []	EFO:0007097	"IPS DF 4.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" []	68345	\N	\N	EFO	0	EFO	iPS DF 4.7	iPS DF 4.7
EFO:0000322	EFO:0007097	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007097	"IPS DF 4.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" []	210415	\N	\N	EFO	1	EFO	cell line	iPS DF 4.7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007097	"IPS DF 4.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" []	563599	\N	\N	EFO	2	EFO	material entity	iPS DF 4.7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007097	"IPS DF 4.7 cell line is an induced pluripotent stem cell line, derived from newborn foreskin fibroblasts. Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC (Cat# CRL-2097TM). The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. The differentiation method is described here: http://www.sciencemag.org/cgi/content/full/324/5928/797?rss=1" []	1144791	\N	\N	EFO	3	EFO	experimental factor	iPS DF 4.7
EFO:0007098	\N	\N	"Human induced pluripotent stem cell line line derived from foreskin fibroblasts, isolated as described by Yu, J. et al. Human induced pluripotent stem cell lines free of vector and transgene sequences. Science 324, 797-801 (2009). Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC. The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. Cells were maintained on mTeSR medium." []	EFO:0007098	"Human induced pluripotent stem cell line line derived from foreskin fibroblasts, isolated as described by Yu, J. et al. Human induced pluripotent stem cell lines free of vector and transgene sequences. Science 324, 797-801 (2009). Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC. The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. Cells were maintained on mTeSR medium." []	68346	\N	\N	EFO	0	EFO	iPS DF 6.9	iPS DF 6.9
EFO:0000322	EFO:0007098	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007098	"Human induced pluripotent stem cell line line derived from foreskin fibroblasts, isolated as described by Yu, J. et al. Human induced pluripotent stem cell lines free of vector and transgene sequences. Science 324, 797-801 (2009). Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC. The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. Cells were maintained on mTeSR medium." []	210416	\N	\N	EFO	1	EFO	cell line	iPS DF 6.9
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007098	"Human induced pluripotent stem cell line line derived from foreskin fibroblasts, isolated as described by Yu, J. et al. Human induced pluripotent stem cell lines free of vector and transgene sequences. Science 324, 797-801 (2009). Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC. The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. Cells were maintained on mTeSR medium." []	563600	\N	\N	EFO	2	EFO	material entity	iPS DF 6.9
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007098	"Human induced pluripotent stem cell line line derived from foreskin fibroblasts, isolated as described by Yu, J. et al. Human induced pluripotent stem cell lines free of vector and transgene sequences. Science 324, 797-801 (2009). Cells were received from the James Thomson laboratory, who originally reprogrammed the cells from fibroblasts provided by ATCC. The first set of numbers before the period refer to different clones, the number after the period indicates the sub-clone. Cells were maintained on mTeSR medium." []	1144792	\N	\N	EFO	3	EFO	experimental factor	iPS DF 6.9
EFO:0007099	\N	\N	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [90%]; abnormal, extra marker chr [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007099	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [90%]; abnormal, extra marker chr [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	68347	\N	\N	EFO	0	EFO	iPS-11a	iPS-11a
EFO:0002888	EFO:0007099	\N	"" []	EFO:0007099	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [90%]; abnormal, extra marker chr [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210417	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-11a
EFO:0005740	EFO:0007099	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007099	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [90%]; abnormal, extra marker chr [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210418	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-11a
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007099	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [90%]; abnormal, extra marker chr [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563601	\N	\N	EFO	2	EFO	cell line	iPS-11a
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007099	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [90%]; abnormal, extra marker chr [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563602	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-11a
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007099	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [90%]; abnormal, extra marker chr [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2027356	\N	\N	EFO	4	EFO	material entity	iPS-11a
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007099	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [90%]; abnormal, extra marker chr [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	1144794	\N	\N	EFO	3	EFO	cell line	iPS-11a
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007099	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [90%]; abnormal, extra marker chr [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2999833	\N	\N	EFO	5	EFO	experimental factor	iPS-11a
EFO:0007100	\N	\N	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [95%]; abnormal, 47XY +1 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007100	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [95%]; abnormal, 47XY +1 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	68348	\N	\N	EFO	0	EFO	iPS-11b	iPS-11b
EFO:0002888	EFO:0007100	\N	"" []	EFO:0007100	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [95%]; abnormal, 47XY +1 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210419	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-11b
EFO:0005740	EFO:0007100	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007100	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [95%]; abnormal, 47XY +1 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210420	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-11b
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007100	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [95%]; abnormal, 47XY +1 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563603	\N	\N	EFO	2	EFO	cell line	iPS-11b
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007100	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [95%]; abnormal, 47XY +1 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563604	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-11b
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007100	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [95%]; abnormal, 47XY +1 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2027358	\N	\N	EFO	4	EFO	material entity	iPS-11b
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007100	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [95%]; abnormal, 47XY +1 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	1144796	\N	\N	EFO	3	EFO	cell line	iPS-11b
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007100	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [95%]; abnormal, 47XY +1 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2999834	\N	\N	EFO	5	EFO	experimental factor	iPS-11b
EFO:0007101	\N	\N	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [75%]; abnormal, 46 XY del in chr 2 [25%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	EFO:0007101	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [75%]; abnormal, 46 XY del in chr 2 [25%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	68349	\N	\N	EFO	0	EFO	iPS-11c	iPS-11c
EFO:0002888	EFO:0007101	\N	"" []	EFO:0007101	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [75%]; abnormal, 46 XY del in chr 2 [25%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	210421	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-11c
EFO:0005740	EFO:0007101	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007101	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [75%]; abnormal, 46 XY del in chr 2 [25%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	210422	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-11c
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007101	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [75%]; abnormal, 46 XY del in chr 2 [25%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	563605	\N	\N	EFO	2	EFO	cell line	iPS-11c
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007101	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [75%]; abnormal, 46 XY del in chr 2 [25%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	563606	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-11c
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007101	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [75%]; abnormal, 46 XY del in chr 2 [25%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	2027360	\N	\N	EFO	4	EFO	material entity	iPS-11c
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007101	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [75%]; abnormal, 46 XY del in chr 2 [25%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	1144798	\N	\N	EFO	3	EFO	cell line	iPS-11c
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007101	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [75%]; abnormal, 46 XY del in chr 2 [25%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	2999835	\N	\N	EFO	5	EFO	experimental factor	iPS-11c
EFO:0007102	\N	\N	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [55%]; Abnormal, +(1)(q25.3) [40%]; trisomy X, +(1)(q25.3) [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007102	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [55%]; Abnormal, +(1)(q25.3) [40%]; trisomy X, +(1)(q25.3) [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	68350	\N	\N	EFO	0	EFO	iPS-15b	iPS-15b
EFO:0002888	EFO:0007102	\N	"" []	EFO:0007102	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [55%]; Abnormal, +(1)(q25.3) [40%]; trisomy X, +(1)(q25.3) [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210423	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-15b
EFO:0005740	EFO:0007102	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007102	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [55%]; Abnormal, +(1)(q25.3) [40%]; trisomy X, +(1)(q25.3) [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210424	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-15b
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007102	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [55%]; Abnormal, +(1)(q25.3) [40%]; trisomy X, +(1)(q25.3) [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563607	\N	\N	EFO	2	EFO	cell line	iPS-15b
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007102	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [55%]; Abnormal, +(1)(q25.3) [40%]; trisomy X, +(1)(q25.3) [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563608	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-15b
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007102	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [55%]; Abnormal, +(1)(q25.3) [40%]; trisomy X, +(1)(q25.3) [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2027362	\N	\N	EFO	4	EFO	material entity	iPS-15b
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007102	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [55%]; Abnormal, +(1)(q25.3) [40%]; trisomy X, +(1)(q25.3) [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	1144800	\N	\N	EFO	3	EFO	cell line	iPS-15b
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007102	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [55%]; Abnormal, +(1)(q25.3) [40%]; trisomy X, +(1)(q25.3) [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2999836	\N	\N	EFO	5	EFO	experimental factor	iPS-15b
EFO:0007103	\N	\N	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007103	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	68351	\N	\N	EFO	0	EFO	iPS-17a	iPS-17a
EFO:0002888	EFO:0007103	\N	"" []	EFO:0007103	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210425	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-17a
EFO:0005740	EFO:0007103	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007103	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210426	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-17a
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007103	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563609	\N	\N	EFO	2	EFO	cell line	iPS-17a
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007103	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563610	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-17a
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007103	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2027364	\N	\N	EFO	4	EFO	material entity	iPS-17a
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007103	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	1144802	\N	\N	EFO	3	EFO	cell line	iPS-17a
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007103	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2999837	\N	\N	EFO	5	EFO	experimental factor	iPS-17a
EFO:0007104	\N	\N	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007104	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	68352	\N	\N	EFO	0	EFO	iPS-17b	iPS-17b
EFO:0002888	EFO:0007104	\N	"" []	EFO:0007104	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210427	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-17b
EFO:0005740	EFO:0007104	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007104	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210428	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-17b
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007104	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563611	\N	\N	EFO	2	EFO	cell line	iPS-17b
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007104	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563612	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-17b
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007104	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2027366	\N	\N	EFO	4	EFO	material entity	iPS-17b
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007104	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	1144804	\N	\N	EFO	3	EFO	cell line	iPS-17b
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007104	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2999838	\N	\N	EFO	5	EFO	experimental factor	iPS-17b
EFO:0007105	\N	\N	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [90%]; Abnormal, 45XO [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007105	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [90%]; Abnormal, 45XO [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	68353	\N	\N	EFO	0	EFO	iPS-18a	iPS-18a
EFO:0002888	EFO:0007105	\N	"" []	EFO:0007105	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [90%]; Abnormal, 45XO [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210429	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-18a
EFO:0005740	EFO:0007105	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007105	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [90%]; Abnormal, 45XO [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210430	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-18a
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007105	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [90%]; Abnormal, 45XO [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563613	\N	\N	EFO	2	EFO	cell line	iPS-18a
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007105	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [90%]; Abnormal, 45XO [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563614	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-18a
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007105	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [90%]; Abnormal, 45XO [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2027368	\N	\N	EFO	4	EFO	material entity	iPS-18a
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007105	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [90%]; Abnormal, 45XO [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	1144806	\N	\N	EFO	3	EFO	cell line	iPS-18a
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007105	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [90%]; Abnormal, 45XO [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2999839	\N	\N	EFO	5	EFO	experimental factor	iPS-18a
EFO:0007106	\N	\N	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007106	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	68354	\N	\N	EFO	0	EFO	iPS-18b	iPS-18b
EFO:0002888	EFO:0007106	\N	"" []	EFO:0007106	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210431	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-18b
EFO:0005740	EFO:0007106	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007106	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210432	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-18b
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007106	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563615	\N	\N	EFO	2	EFO	cell line	iPS-18b
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007106	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563616	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-18b
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007106	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2027370	\N	\N	EFO	4	EFO	material entity	iPS-18b
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007106	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	1144808	\N	\N	EFO	3	EFO	cell line	iPS-18b
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007106	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2999840	\N	\N	EFO	5	EFO	experimental factor	iPS-18b
EFO:0007107	\N	\N	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007107	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	68355	\N	\N	EFO	0	EFO	iPS-18c	iPS-18c
EFO:0002888	EFO:0007107	\N	"" []	EFO:0007107	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210433	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-18c
EFO:0005740	EFO:0007107	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007107	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210434	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-18c
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007107	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563617	\N	\N	EFO	2	EFO	cell line	iPS-18c
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007107	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563618	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-18c
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007107	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2027372	\N	\N	EFO	4	EFO	material entity	iPS-18c
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007107	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	1144810	\N	\N	EFO	3	EFO	cell line	iPS-18c
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007107	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2999841	\N	\N	EFO	5	EFO	experimental factor	iPS-18c
EFO:0007108	\N	\N	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XY [90%]; Abnormal, non clonal tetraploid [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	EFO:0007108	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XY [90%]; Abnormal, non clonal tetraploid [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	68356	\N	\N	EFO	0	EFO	iPS-20b	iPS-20b
EFO:0002888	EFO:0007108	\N	"" []	EFO:0007108	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XY [90%]; Abnormal, non clonal tetraploid [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210435	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-20b
EFO:0005740	EFO:0007108	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007108	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XY [90%]; Abnormal, non clonal tetraploid [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	210436	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-20b
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007108	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XY [90%]; Abnormal, non clonal tetraploid [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563619	\N	\N	EFO	2	EFO	cell line	iPS-20b
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007108	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XY [90%]; Abnormal, non clonal tetraploid [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	563620	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-20b
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007108	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XY [90%]; Abnormal, non clonal tetraploid [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2027374	\N	\N	EFO	4	EFO	material entity	iPS-20b
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007108	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XY [90%]; Abnormal, non clonal tetraploid [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	1144812	\N	\N	EFO	3	EFO	cell line	iPS-20b
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007108	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XY [90%]; Abnormal, non clonal tetraploid [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." []	2999842	\N	\N	EFO	5	EFO	experimental factor	iPS-20b
EFO:0007109	\N	\N	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Abnormal, 47XX +17, addition to 9 [80%]; Normal, 46XX [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	EFO:0007109	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Abnormal, 47XX +17, addition to 9 [80%]; Normal, 46XX [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	68357	\N	\N	EFO	0	EFO	iPS-27b	iPS-27b
EFO:0002888	EFO:0007109	\N	"" []	EFO:0007109	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Abnormal, 47XX +17, addition to 9 [80%]; Normal, 46XX [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	210437	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-27b
EFO:0005740	EFO:0007109	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007109	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Abnormal, 47XX +17, addition to 9 [80%]; Normal, 46XX [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	210438	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-27b
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007109	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Abnormal, 47XX +17, addition to 9 [80%]; Normal, 46XX [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	563621	\N	\N	EFO	2	EFO	cell line	iPS-27b
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007109	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Abnormal, 47XX +17, addition to 9 [80%]; Normal, 46XX [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	563622	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-27b
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007109	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Abnormal, 47XX +17, addition to 9 [80%]; Normal, 46XX [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	2027376	\N	\N	EFO	4	EFO	material entity	iPS-27b
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007109	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Abnormal, 47XX +17, addition to 9 [80%]; Normal, 46XX [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	1144814	\N	\N	EFO	3	EFO	cell line	iPS-27b
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007109	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Abnormal, 47XX +17, addition to 9 [80%]; Normal, 46XX [10%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	2999843	\N	\N	EFO	5	EFO	experimental factor	iPS-27b
EFO:0007110	\N	\N	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [95%]; Abnormal, 47XX +17 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	EFO:0007110	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [95%]; Abnormal, 47XX +17 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	68358	\N	\N	EFO	0	EFO	iPS-27e	iPS-27e
EFO:0002888	EFO:0007110	\N	"" []	EFO:0007110	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [95%]; Abnormal, 47XX +17 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	210439	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-27e
EFO:0005740	EFO:0007110	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007110	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [95%]; Abnormal, 47XX +17 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	210440	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-27e
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007110	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [95%]; Abnormal, 47XX +17 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	563623	\N	\N	EFO	2	EFO	cell line	iPS-27e
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007110	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [95%]; Abnormal, 47XX +17 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	563624	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-27e
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007110	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [95%]; Abnormal, 47XX +17 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	2027378	\N	\N	EFO	4	EFO	material entity	iPS-27e
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007110	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [95%]; Abnormal, 47XX +17 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	1144816	\N	\N	EFO	3	EFO	cell line	iPS-27e
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007110	"Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX [95%]; Abnormal, 47XX +17 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on 10% KOSR medium." []	2999844	\N	\N	EFO	5	EFO	experimental factor	iPS-27e
EFO:0007111	\N	\N	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, MYC, hTERT, and SV40 large T (hTERT and SV40 large T did not integrate)." []	EFO:0007111	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, MYC, hTERT, and SV40 large T (hTERT and SV40 large T did not integrate)." []	68359	\N	\N	EFO	0	EFO	iPS-5	iPS-5
EFO:0002888	EFO:0007111	\N	"" []	EFO:0007111	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, MYC, hTERT, and SV40 large T (hTERT and SV40 large T did not integrate)." []	210441	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-5
EFO:0005740	EFO:0007111	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007111	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, MYC, hTERT, and SV40 large T (hTERT and SV40 large T did not integrate)." []	210442	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-5
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007111	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, MYC, hTERT, and SV40 large T (hTERT and SV40 large T did not integrate)." []	563625	\N	\N	EFO	2	EFO	cell line	iPS-5
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007111	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, MYC, hTERT, and SV40 large T (hTERT and SV40 large T did not integrate)." []	563626	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-5
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007111	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, MYC, hTERT, and SV40 large T (hTERT and SV40 large T did not integrate)." []	2027380	\N	\N	EFO	4	EFO	material entity	iPS-5
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007111	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, MYC, hTERT, and SV40 large T (hTERT and SV40 large T did not integrate)." []	1144818	\N	\N	EFO	3	EFO	cell line	iPS-5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007111	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, MYC, hTERT, and SV40 large T (hTERT and SV40 large T did not integrate)." []	2999845	\N	\N	EFO	5	EFO	experimental factor	iPS-5
EFO:0007112	\N	\N	"Loucy was established in 1987 from the peripheral blood of a 38-year-old female patient with T-cell acute lymphoblastic leukemia (T-ALL) obtained two months prior to her death. May be of value in evaluating the role of t(16;20) in the etiology of T-ALL." []	EFO:0007112	"Loucy was established in 1987 from the peripheral blood of a 38-year-old female patient with T-cell acute lymphoblastic leukemia (T-ALL) obtained two months prior to her death. May be of value in evaluating the role of t(16;20) in the etiology of T-ALL." []	68360	\N	\N	EFO	0	EFO	Loucy	Loucy
EFO:0001639	EFO:0007112	\N	"" []	EFO:0007112	"Loucy was established in 1987 from the peripheral blood of a 38-year-old female patient with T-cell acute lymphoblastic leukemia (T-ALL) obtained two months prior to her death. May be of value in evaluating the role of t(16;20) in the etiology of T-ALL." []	210443	\N	\N	EFO	1	EFO	cancer cell line	Loucy
EFO:0002888	EFO:0007112	\N	"" []	EFO:0007112	"Loucy was established in 1987 from the peripheral blood of a 38-year-old female patient with T-cell acute lymphoblastic leukemia (T-ALL) obtained two months prior to her death. May be of value in evaluating the role of t(16;20) in the etiology of T-ALL." []	210444	\N	\N	EFO	1	EFO	Homo sapiens cell line	Loucy
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007112	"Loucy was established in 1987 from the peripheral blood of a 38-year-old female patient with T-cell acute lymphoblastic leukemia (T-ALL) obtained two months prior to her death. May be of value in evaluating the role of t(16;20) in the etiology of T-ALL." []	563627	\N	\N	EFO	2	EFO	cell line	Loucy
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007112	"Loucy was established in 1987 from the peripheral blood of a 38-year-old female patient with T-cell acute lymphoblastic leukemia (T-ALL) obtained two months prior to her death. May be of value in evaluating the role of t(16;20) in the etiology of T-ALL." []	563628	\N	\N	EFO	2	EFO	cell line	Loucy
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007112	"Loucy was established in 1987 from the peripheral blood of a 38-year-old female patient with T-cell acute lymphoblastic leukemia (T-ALL) obtained two months prior to her death. May be of value in evaluating the role of t(16;20) in the etiology of T-ALL." []	1144819	\N	\N	EFO	3	EFO	material entity	Loucy
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007112	"Loucy was established in 1987 from the peripheral blood of a 38-year-old female patient with T-cell acute lymphoblastic leukemia (T-ALL) obtained two months prior to her death. May be of value in evaluating the role of t(16;20) in the etiology of T-ALL." []	2027381	\N	\N	EFO	4	EFO	experimental factor	Loucy
EFO:0007113	\N	\N	"This cell line was derived from the third instar larval stage of dorsal mesothoracic discs. Originated from the Mikyake lab." []	EFO:0007113	"This cell line was derived from the third instar larval stage of dorsal mesothoracic discs. Originated from the Mikyake lab." []	68361	\N	\N	EFO	0	EFO	ML-DmD23	ML-DmD23
EFO:0003040	EFO:0007113	\N	"" []	EFO:0007113	"This cell line was derived from the third instar larval stage of dorsal mesothoracic discs. Originated from the Mikyake lab." []	210445	\N	\N	EFO	1	EFO	embryonic cell line	ML-DmD23
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007113	"This cell line was derived from the third instar larval stage of dorsal mesothoracic discs. Originated from the Mikyake lab." []	563629	\N	\N	EFO	2	EFO	cell line	ML-DmD23
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007113	"This cell line was derived from the third instar larval stage of dorsal mesothoracic discs. Originated from the Mikyake lab." []	1144820	\N	\N	EFO	3	EFO	material entity	ML-DmD23
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007113	"This cell line was derived from the third instar larval stage of dorsal mesothoracic discs. Originated from the Mikyake lab." []	2027382	\N	\N	EFO	4	EFO	experimental factor	ML-DmD23
EFO:0007114	\N	\N	"This cell line was cloned from ML-DmD23 cell line, which was derived from the third instar larval stage of dorsal mesothoracic discs. ML-DmD23-C4 cells are male, by criteria of roX gene expression and Sxl splicing (Stoiber et al., 2016, G3, in press). Originated from the Mikyake lab." []	EFO:0007114	"This cell line was cloned from ML-DmD23 cell line, which was derived from the third instar larval stage of dorsal mesothoracic discs. ML-DmD23-C4 cells are male, by criteria of roX gene expression and Sxl splicing (Stoiber et al., 2016, G3, in press). Originated from the Mikyake lab." []	68362	\N	\N	EFO	0	EFO	ML-DmD23-c4	ML-DmD23-c4
EFO:0003040	EFO:0007114	\N	"" []	EFO:0007114	"This cell line was cloned from ML-DmD23 cell line, which was derived from the third instar larval stage of dorsal mesothoracic discs. ML-DmD23-C4 cells are male, by criteria of roX gene expression and Sxl splicing (Stoiber et al., 2016, G3, in press). Originated from the Mikyake lab." []	210446	\N	\N	EFO	1	EFO	embryonic cell line	ML-DmD23-c4
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007114	"This cell line was cloned from ML-DmD23 cell line, which was derived from the third instar larval stage of dorsal mesothoracic discs. ML-DmD23-C4 cells are male, by criteria of roX gene expression and Sxl splicing (Stoiber et al., 2016, G3, in press). Originated from the Mikyake lab." []	563630	\N	\N	EFO	2	EFO	cell line	ML-DmD23-c4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007114	"This cell line was cloned from ML-DmD23 cell line, which was derived from the third instar larval stage of dorsal mesothoracic discs. ML-DmD23-C4 cells are male, by criteria of roX gene expression and Sxl splicing (Stoiber et al., 2016, G3, in press). Originated from the Mikyake lab." []	1144821	\N	\N	EFO	3	EFO	material entity	ML-DmD23-c4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007114	"This cell line was cloned from ML-DmD23 cell line, which was derived from the third instar larval stage of dorsal mesothoracic discs. ML-DmD23-C4 cells are male, by criteria of roX gene expression and Sxl splicing (Stoiber et al., 2016, G3, in press). Originated from the Mikyake lab." []	2027383	\N	\N	EFO	4	EFO	experimental factor	ML-DmD23-c4
EFO:0007115	\N	\N	"Human B-lymphoblastoid cells established from peripheral blood lymphocytes of a 27-year-old white Caucasian woman by Epstein-Barr virus (EBV) transformation in 1990; suitable normal control cell line for toxicity or radiosensitivity assays confirmed as human with IEF of AST, NP." []	EFO:0007115	"Human B-lymphoblastoid cells established from peripheral blood lymphocytes of a 27-year-old white Caucasian woman by Epstein-Barr virus (EBV) transformation in 1990; suitable normal control cell line for toxicity or radiosensitivity assays confirmed as human with IEF of AST, NP." []	68363	\N	\N	EFO	0	EFO	NC-NC	NC-NC
EFO:0005292	EFO:0007115	\N	"" []	EFO:0007115	"Human B-lymphoblastoid cells established from peripheral blood lymphocytes of a 27-year-old white Caucasian woman by Epstein-Barr virus (EBV) transformation in 1990; suitable normal control cell line for toxicity or radiosensitivity assays confirmed as human with IEF of AST, NP." []	210447	\N	\N	EFO	1	EFO	lymphoblastoid cell line	NC-NC
EFO:0000322	EFO:0005292	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007115	"Human B-lymphoblastoid cells established from peripheral blood lymphocytes of a 27-year-old white Caucasian woman by Epstein-Barr virus (EBV) transformation in 1990; suitable normal control cell line for toxicity or radiosensitivity assays confirmed as human with IEF of AST, NP." []	563631	\N	\N	EFO	2	EFO	cell line	NC-NC
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007115	"Human B-lymphoblastoid cells established from peripheral blood lymphocytes of a 27-year-old white Caucasian woman by Epstein-Barr virus (EBV) transformation in 1990; suitable normal control cell line for toxicity or radiosensitivity assays confirmed as human with IEF of AST, NP." []	1144822	\N	\N	EFO	3	EFO	material entity	NC-NC
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007115	"Human B-lymphoblastoid cells established from peripheral blood lymphocytes of a 27-year-old white Caucasian woman by Epstein-Barr virus (EBV) transformation in 1990; suitable normal control cell line for toxicity or radiosensitivity assays confirmed as human with IEF of AST, NP." []	2027384	\N	\N	EFO	4	EFO	experimental factor	NC-NC
EFO:0007116	\N	\N	"The hESC line UCSF4 with a normal 46XX karyotype was derived from a blastocyst-stage embryo on human foreskin fibroblasts." []	EFO:0007116	"The hESC line UCSF4 with a normal 46XX karyotype was derived from a blastocyst-stage embryo on human foreskin fibroblasts." []	68364	\N	\N	EFO	0	EFO	UCSF4	UCSF4
EFO:0002888	EFO:0007116	\N	"" []	EFO:0007116	"The hESC line UCSF4 with a normal 46XX karyotype was derived from a blastocyst-stage embryo on human foreskin fibroblasts." []	210448	\N	\N	EFO	1	EFO	Homo sapiens cell line	UCSF4
EFO:0003040	EFO:0007116	\N	"" []	EFO:0007116	"The hESC line UCSF4 with a normal 46XX karyotype was derived from a blastocyst-stage embryo on human foreskin fibroblasts." []	210449	\N	\N	EFO	1	EFO	embryonic cell line	UCSF4
EFO:0005738	EFO:0007116	\N	"ESC derived cell line is a cell line that derives from an embryonic stem call" []	EFO:0007116	"The hESC line UCSF4 with a normal 46XX karyotype was derived from a blastocyst-stage embryo on human foreskin fibroblasts." []	210450	\N	\N	EFO	1	EFO	ESC derived cell line	UCSF4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007116	"The hESC line UCSF4 with a normal 46XX karyotype was derived from a blastocyst-stage embryo on human foreskin fibroblasts." []	563632	\N	\N	EFO	2	EFO	cell line	UCSF4
EFO:0000322	EFO:0003040	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007116	"The hESC line UCSF4 with a normal 46XX karyotype was derived from a blastocyst-stage embryo on human foreskin fibroblasts." []	563633	\N	\N	EFO	2	EFO	cell line	UCSF4
EFO:0002886	EFO:0005738	\N	"Cell lines derived from stem cells." []	EFO:0007116	"The hESC line UCSF4 with a normal 46XX karyotype was derived from a blastocyst-stage embryo on human foreskin fibroblasts." []	563634	\N	\N	EFO	2	EFO	stem cell derived cell line	UCSF4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007116	"The hESC line UCSF4 with a normal 46XX karyotype was derived from a blastocyst-stage embryo on human foreskin fibroblasts." []	2027386	\N	\N	EFO	4	EFO	material entity	UCSF4
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007116	"The hESC line UCSF4 with a normal 46XX karyotype was derived from a blastocyst-stage embryo on human foreskin fibroblasts." []	1144824	\N	\N	EFO	3	EFO	cell line	UCSF4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007116	"The hESC line UCSF4 with a normal 46XX karyotype was derived from a blastocyst-stage embryo on human foreskin fibroblasts." []	2999846	\N	\N	EFO	5	EFO	experimental factor	UCSF4
EFO:0007117	\N	\N	"quantification of the thickness of tunica intima and tunica media, the innermost two layers of the wall of the carotid artery, usually by carotid ultrasound" []	EFO:0007117	"quantification of the thickness of tunica intima and tunica media, the innermost two layers of the wall of the carotid artery, usually by carotid ultrasound" []	68365	\N	\N	EFO	0	EFO	carotid artery intima media thickness	carotid artery intima media thickness
EFO:0007717	EFO:0007117	\N	"Quantification of some aspect of the carotid artery geometry" []	EFO:0007117	"quantification of the thickness of tunica intima and tunica media, the innermost two layers of the wall of the carotid artery, usually by carotid ultrasound" []	210451	\N	\N	EFO	1	EFO	carotid artery geometry measurement	carotid artery intima media thickness
EFO:0007716	EFO:0007717	\N	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	EFO:0007117	"quantification of the thickness of tunica intima and tunica media, the innermost two layers of the wall of the carotid artery, usually by carotid ultrasound" []	563635	\N	\N	EFO	2	EFO	carotid artery measurement	carotid artery intima media thickness
EFO:0001444	EFO:0007716	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007117	"quantification of the thickness of tunica intima and tunica media, the innermost two layers of the wall of the carotid artery, usually by carotid ultrasound" []	1144825	\N	\N	EFO	3	EFO	measurement	carotid artery intima media thickness
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007117	"quantification of the thickness of tunica intima and tunica media, the innermost two layers of the wall of the carotid artery, usually by carotid ultrasound" []	2027387	\N	\N	EFO	4	EFO	information entity	carotid artery intima media thickness
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007117	"quantification of the thickness of tunica intima and tunica media, the innermost two layers of the wall of the carotid artery, usually by carotid ultrasound" []	3178831	\N	\N	EFO	5	EFO	experimental factor	carotid artery intima media thickness
EFO:0007118	\N	\N	"ratio of sitting height to total body height" []	EFO:0007118	"ratio of sitting height to total body height" []	68366	\N	\N	EFO	0	EFO	sitting height ratio	sitting height ratio
EFO:0007861	EFO:0007118	\N	"quantification of the ratio between two body measures, eg waist-hip ratio" []	EFO:0007118	"ratio of sitting height to total body height" []	210452	\N	\N	EFO	1	EFO	body ratio measurement	sitting height ratio
EFO:0004324	EFO:0007861	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0007118	"ratio of sitting height to total body height" []	563636	\N	\N	EFO	2	EFO	body weights and measures	sitting height ratio
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0007118	"ratio of sitting height to total body height" []	1144826	\N	\N	EFO	3	EFO	anthropometric measurement	sitting height ratio
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007118	"ratio of sitting height to total body height" []	2027388	\N	\N	EFO	4	EFO	measurement	sitting height ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007118	"ratio of sitting height to total body height" []	3178832	\N	\N	EFO	5	EFO	information entity	sitting height ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007118	"ratio of sitting height to total body height" []	4388426	\N	\N	EFO	6	EFO	experimental factor	sitting height ratio
EFO:0007119	\N	\N	"one of four constitutional types used to classify individuals in traditional Korean medicine" []	EFO:0007119	"one of four constitutional types used to classify individuals in traditional Korean medicine" []	68367	\N	\N	EFO	0	EFO	Sasang constitutional medicine type	Sasang constitutional medicine type
BFO:0000019	EFO:0007119	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007119	"one of four constitutional types used to classify individuals in traditional Korean medicine" []	210453	\N	\N	EFO	1	EFO	quality	Sasang constitutional medicine type
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007119	"one of four constitutional types used to classify individuals in traditional Korean medicine" []	563637	\N	\N	EFO	2	EFO	material property	Sasang constitutional medicine type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007119	"one of four constitutional types used to classify individuals in traditional Korean medicine" []	1144827	\N	\N	EFO	3	EFO	experimental factor	Sasang constitutional medicine type
EFO:0007120	\N	\N	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large lungs and a small liver. They have superiority in function, and are born with inferiority." []	EFO:0007120	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large lungs and a small liver. They have superiority in function, and are born with inferiority." []	68368	\N	\N	EFO	0	EFO	Tae-Yang	Tae-Yang
EFO:0007119	EFO:0007120	\N	"one of four constitutional types used to classify individuals in traditional Korean medicine" []	EFO:0007120	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large lungs and a small liver. They have superiority in function, and are born with inferiority." []	210454	\N	\N	EFO	1	EFO	Sasang constitutional medicine type	Tae-Yang
BFO:0000019	EFO:0007119	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007120	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large lungs and a small liver. They have superiority in function, and are born with inferiority." []	563638	\N	\N	EFO	2	EFO	quality	Tae-Yang
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007120	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large lungs and a small liver. They have superiority in function, and are born with inferiority." []	1144828	\N	\N	EFO	3	EFO	material property	Tae-Yang
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007120	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large lungs and a small liver. They have superiority in function, and are born with inferiority." []	2027389	\N	\N	EFO	4	EFO	experimental factor	Tae-Yang
EFO:0007121	\N	\N	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have a large spleen, and small kidneys. They have whitish skin. Like So-Eum, many of this type are skinny." []	EFO:0007121	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have a large spleen, and small kidneys. They have whitish skin. Like So-Eum, many of this type are skinny." []	68369	\N	\N	EFO	0	EFO	So-Yang	So-Yang
EFO:0007119	EFO:0007121	\N	"one of four constitutional types used to classify individuals in traditional Korean medicine" []	EFO:0007121	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have a large spleen, and small kidneys. They have whitish skin. Like So-Eum, many of this type are skinny." []	210455	\N	\N	EFO	1	EFO	Sasang constitutional medicine type	So-Yang
BFO:0000019	EFO:0007119	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007121	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have a large spleen, and small kidneys. They have whitish skin. Like So-Eum, many of this type are skinny." []	563639	\N	\N	EFO	2	EFO	quality	So-Yang
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007121	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have a large spleen, and small kidneys. They have whitish skin. Like So-Eum, many of this type are skinny." []	1144829	\N	\N	EFO	3	EFO	material property	So-Yang
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007121	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have a large spleen, and small kidneys. They have whitish skin. Like So-Eum, many of this type are skinny." []	2027390	\N	\N	EFO	4	EFO	experimental factor	So-Yang
EFO:0007122	\N	\N	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have  have a large liver and small lungs. They are tall and the majority gain a lot of weight. They are patient and have a reserved personality. Therefore, if they are given a task, they will not give up, no matter what task it is. Because of this personality, they are prone to gambling." []	EFO:0007122	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have  have a large liver and small lungs. They are tall and the majority gain a lot of weight. They are patient and have a reserved personality. Therefore, if they are given a task, they will not give up, no matter what task it is. Because of this personality, they are prone to gambling." []	68370	\N	\N	EFO	0	EFO	Tae-Eum	Tae-Eum
EFO:0007119	EFO:0007122	\N	"one of four constitutional types used to classify individuals in traditional Korean medicine" []	EFO:0007122	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have  have a large liver and small lungs. They are tall and the majority gain a lot of weight. They are patient and have a reserved personality. Therefore, if they are given a task, they will not give up, no matter what task it is. Because of this personality, they are prone to gambling." []	210456	\N	\N	EFO	1	EFO	Sasang constitutional medicine type	Tae-Eum
BFO:0000019	EFO:0007119	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007122	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have  have a large liver and small lungs. They are tall and the majority gain a lot of weight. They are patient and have a reserved personality. Therefore, if they are given a task, they will not give up, no matter what task it is. Because of this personality, they are prone to gambling." []	563640	\N	\N	EFO	2	EFO	quality	Tae-Eum
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007122	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have  have a large liver and small lungs. They are tall and the majority gain a lot of weight. They are patient and have a reserved personality. Therefore, if they are given a task, they will not give up, no matter what task it is. Because of this personality, they are prone to gambling." []	1144830	\N	\N	EFO	3	EFO	material property	Tae-Eum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007122	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have  have a large liver and small lungs. They are tall and the majority gain a lot of weight. They are patient and have a reserved personality. Therefore, if they are given a task, they will not give up, no matter what task it is. Because of this personality, they are prone to gambling." []	2027391	\N	\N	EFO	4	EFO	experimental factor	Tae-Eum
EFO:0007123	\N	\N	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large kidneys and a small spleen. They are short and many are skinny. Due to weak intestines, they very often have digestive problem. Many enjoy a meat diet." []	EFO:0007123	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large kidneys and a small spleen. They are short and many are skinny. Due to weak intestines, they very often have digestive problem. Many enjoy a meat diet." []	68371	\N	\N	EFO	0	EFO	So-Eum	So-Eum
EFO:0007119	EFO:0007123	\N	"one of four constitutional types used to classify individuals in traditional Korean medicine" []	EFO:0007123	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large kidneys and a small spleen. They are short and many are skinny. Due to weak intestines, they very often have digestive problem. Many enjoy a meat diet." []	210457	\N	\N	EFO	1	EFO	Sasang constitutional medicine type	So-Eum
BFO:0000019	EFO:0007119	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007123	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large kidneys and a small spleen. They are short and many are skinny. Due to weak intestines, they very often have digestive problem. Many enjoy a meat diet." []	563641	\N	\N	EFO	2	EFO	quality	So-Eum
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007123	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large kidneys and a small spleen. They are short and many are skinny. Due to weak intestines, they very often have digestive problem. Many enjoy a meat diet." []	1144831	\N	\N	EFO	3	EFO	material property	So-Eum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007123	"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have large kidneys and a small spleen. They are short and many are skinny. Due to weak intestines, they very often have digestive problem. Many enjoy a meat diet." []	2027392	\N	\N	EFO	4	EFO	experimental factor	So-Eum
EFO:0007124	\N	\N	"lesion occuring in or on the salivary gland" []	EFO:0007124	"lesion occuring in or on the salivary gland" []	68372	\N	\N	EFO	0	EFO	salivary gland lesion	salivary gland lesion
HP:0000153	\N	\N	"An abnormality of the mouth." [HPO:probinson]	EFO:0007124	"lesion occuring in or on the salivary gland" []	194861	\N	hposlim_core	EFO	0	EFO	Abnormality of the mouth	salivary gland lesion
EFO:0007125	\N	\N	"lesion occuring in or on the lacrimal gland" []	EFO:0007125	"lesion occuring in or on the lacrimal gland" []	68373	\N	\N	EFO	0	EFO	lachrymal gland lesion	lachrymal gland lesion
HP:0000478	\N	\N	"Any abnormality of the eye, including location, spacing, and intraocular abnormalities." [HPO:probinson]	EFO:0007125	"lesion occuring in or on the lacrimal gland" []	194862	\N	hposlim_core	EFO	0	EFO	Abnormality of the eye	lachrymal gland lesion
EFO:0007126	\N	\N	"A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." []	EFO:0007126	"A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." []	68374	\N	\N	EFO	0	EFO	Acanthamoeba keratitis	Acanthamoeba keratitis
EFO:0000524	EFO:0007126	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007126	"A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." []	210458	\N	\N	EFO	1	EFO	head disease	Acanthamoeba keratitis
EFO:0001067	EFO:0007126	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007126	"A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." []	210459	\N	\N	EFO	1	EFO	parasitic infection	Acanthamoeba keratitis
EFO:0003966	EFO:0007126	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0007126	"A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." []	210460	\N	\N	EFO	1	EFO	eye disease	Acanthamoeba keratitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007126	"A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." []	563642	\N	\N	EFO	2	EFO	disease	Acanthamoeba keratitis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007126	"A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." []	563643	\N	\N	EFO	2	EFO	infectious disease	Acanthamoeba keratitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007126	"A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." []	563644	\N	\N	EFO	2	EFO	disease	Acanthamoeba keratitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007126	"A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." []	2027394	\N	\N	EFO	4	EFO	disposition	Acanthamoeba keratitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007126	"A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." []	1144833	\N	\N	EFO	3	EFO	disease	Acanthamoeba keratitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007126	"A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." []	2999847	\N	\N	EFO	5	EFO	material property	Acanthamoeba keratitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007126	"A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." []	4132704	\N	\N	EFO	6	EFO	experimental factor	Acanthamoeba keratitis
EFO:0007127	\N	\N	"A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." []	EFO:0007127	"A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." []	68375	\N	\N	EFO	0	EFO	actinobacillosis	actinobacillosis
EFO:0000771	EFO:0007127	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007127	"A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." []	210461	\N	\N	EFO	1	EFO	bacterial disease	actinobacillosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007127	"A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." []	563645	\N	\N	EFO	2	EFO	infectious disease	actinobacillosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007127	"A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." []	1144834	\N	\N	EFO	3	EFO	disease	actinobacillosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007127	"A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." []	2027395	\N	\N	EFO	4	EFO	disposition	actinobacillosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007127	"A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." []	3178834	\N	\N	EFO	5	EFO	material property	actinobacillosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007127	"A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." []	4388427	\N	\N	EFO	6	EFO	experimental factor	actinobacillosis
EFO:0007128	\N	\N	"A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures." []	EFO:0007128	"A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures." []	68376	\N	\N	EFO	0	EFO	actinomycosis	actinomycosis
EFO:0000771	EFO:0007128	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007128	"A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures." []	210462	\N	\N	EFO	1	EFO	bacterial disease	actinomycosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007128	"A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures." []	563646	\N	\N	EFO	2	EFO	infectious disease	actinomycosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007128	"A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures." []	1144835	\N	\N	EFO	3	EFO	disease	actinomycosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007128	"A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures." []	2027396	\N	\N	EFO	4	EFO	disposition	actinomycosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007128	"A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures." []	3178835	\N	\N	EFO	5	EFO	material property	actinomycosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007128	"A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures." []	4388428	\N	\N	EFO	6	EFO	experimental factor	actinomycosis
EFO:0007129	\N	\N	"A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." []	EFO:0007129	"A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." []	68377	\N	\N	EFO	0	EFO	acute chest syndrome	acute chest syndrome
EFO:0003818	EFO:0007129	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007129	"A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." []	210463	\N	\N	EFO	1	EFO	lung disease	acute chest syndrome
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007129	"A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." []	563647	\N	\N	EFO	2	EFO	respiratory system disease	acute chest syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007129	"A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." []	1144836	\N	\N	EFO	3	EFO	disease	acute chest syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007129	"A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." []	2027397	\N	\N	EFO	4	EFO	disposition	acute chest syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007129	"A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." []	3178836	\N	\N	EFO	5	EFO	material property	acute chest syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007129	"A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." []	4388429	\N	\N	EFO	6	EFO	experimental factor	acute chest syndrome
EFO:0007130	\N	\N	"An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." []	EFO:0007130	"An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." []	68378	\N	\N	EFO	0	EFO	acute disseminated encephalomyelitis	acute disseminated encephalomyelitis
EFO:0001423	EFO:0007130	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:0007130	"An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." []	210464	\N	\N	EFO	1	EFO	encephalomyelitis	acute disseminated encephalomyelitis
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:0007130	"An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." []	563648	\N	\N	EFO	2	EFO	central nervous system infection	acute disseminated encephalomyelitis
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007130	"An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." []	1144837	\N	\N	EFO	3	EFO	nervous system disease	acute disseminated encephalomyelitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007130	"An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." []	2027398	\N	\N	EFO	4	EFO	disease	acute disseminated encephalomyelitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007130	"An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." []	3178837	\N	\N	EFO	5	EFO	disposition	acute disseminated encephalomyelitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007130	"An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." []	4388430	\N	\N	EFO	6	EFO	material property	acute disseminated encephalomyelitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007130	"An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." []	5408895	\N	\N	EFO	7	EFO	experimental factor	acute disseminated encephalomyelitis
EFO:0007131	\N	\N	"A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis." []	EFO:0007131	"A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis." []	68379	\N	\N	EFO	0	EFO	acute hemorrhagic conjunctivitis	acute hemorrhagic conjunctivitis
EFO:0000763	EFO:0007131	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007131	"A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis." []	210465	\N	\N	EFO	1	EFO	viral disease	acute hemorrhagic conjunctivitis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007131	"A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis." []	563649	\N	\N	EFO	2	EFO	infectious disease	acute hemorrhagic conjunctivitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007131	"A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis." []	1144838	\N	\N	EFO	3	EFO	disease	acute hemorrhagic conjunctivitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007131	"A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis." []	2027399	\N	\N	EFO	4	EFO	disposition	acute hemorrhagic conjunctivitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007131	"A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis." []	3178838	\N	\N	EFO	5	EFO	material property	acute hemorrhagic conjunctivitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007131	"A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis." []	4388431	\N	\N	EFO	6	EFO	experimental factor	acute hemorrhagic conjunctivitis
EFO:0007132	\N	\N	"A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." []	EFO:0007132	"A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." []	68380	\N	\N	EFO	0	EFO	acute hemorrhagic leukoencephalitis	acute hemorrhagic leukoencephalitis
EFO:0001423	EFO:0007132	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:0007132	"A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." []	210466	\N	\N	EFO	1	EFO	encephalomyelitis	acute hemorrhagic leukoencephalitis
EFO:0004264	EFO:0007132	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0007132	"A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." []	210467	\N	\N	EFO	1	EFO	vascular disease	acute hemorrhagic leukoencephalitis
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:0007132	"A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." []	563650	\N	\N	EFO	2	EFO	central nervous system infection	acute hemorrhagic leukoencephalitis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007132	"A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." []	563651	\N	\N	EFO	2	EFO	cardiovascular disease	acute hemorrhagic leukoencephalitis
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007132	"A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." []	1144839	\N	\N	EFO	3	EFO	nervous system disease	acute hemorrhagic leukoencephalitis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007132	"A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." []	1144840	\N	\N	EFO	3	EFO	disease	acute hemorrhagic leukoencephalitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007132	"A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." []	2027400	\N	\N	EFO	4	EFO	disease	acute hemorrhagic leukoencephalitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007132	"A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." []	3178839	\N	\N	EFO	5	EFO	disposition	acute hemorrhagic leukoencephalitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007132	"A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." []	4132705	\N	\N	EFO	6	EFO	material property	acute hemorrhagic leukoencephalitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007132	"A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." []	5181028	\N	\N	EFO	7	EFO	experimental factor	acute hemorrhagic leukoencephalitis
EFO:0007133	\N	\N	"A carcinosarcoma that has_material_basis_in gland and muscle components." []	EFO:0007133	"A carcinosarcoma that has_material_basis_in gland and muscle components." []	68381	\N	\N	EFO	0	EFO	adenomyoma	adenomyoma
EFO:0000313	EFO:0007133	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007133	"A carcinosarcoma that has_material_basis_in gland and muscle components." []	210468	\N	\N	EFO	1	EFO	carcinoma	adenomyoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007133	"A carcinosarcoma that has_material_basis_in gland and muscle components." []	563652	\N	\N	EFO	2	EFO	cancer	adenomyoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007133	"A carcinosarcoma that has_material_basis_in gland and muscle components." []	563653	\N	\N	EFO	2	EFO	epithelial neoplasm	adenomyoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007133	"A carcinosarcoma that has_material_basis_in gland and muscle components." []	1144841	\N	\N	EFO	3	EFO	neoplasm	adenomyoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007133	"A carcinosarcoma that has_material_basis_in gland and muscle components." []	1144842	\N	\N	EFO	3	EFO	neoplasm	adenomyoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007133	"A carcinosarcoma that has_material_basis_in gland and muscle components." []	2027402	\N	\N	EFO	4	EFO	disease	adenomyoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007133	"A carcinosarcoma that has_material_basis_in gland and muscle components." []	3178841	\N	\N	EFO	5	EFO	disposition	adenomyoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007133	"A carcinosarcoma that has_material_basis_in gland and muscle components." []	4388433	\N	\N	EFO	6	EFO	material property	adenomyoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007133	"A carcinosarcoma that has_material_basis_in gland and muscle components." []	5408896	\N	\N	EFO	7	EFO	experimental factor	adenomyoma
EFO:0007134	\N	\N	"A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." []	EFO:0007134	"A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." []	68382	\N	\N	EFO	0	EFO	adenosarcoma	adenosarcoma
EFO:0000313	EFO:0007134	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007134	"A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." []	210469	\N	\N	EFO	1	EFO	carcinoma	adenosarcoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007134	"A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." []	563654	\N	\N	EFO	2	EFO	cancer	adenosarcoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007134	"A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." []	563655	\N	\N	EFO	2	EFO	epithelial neoplasm	adenosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007134	"A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." []	1144843	\N	\N	EFO	3	EFO	neoplasm	adenosarcoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007134	"A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." []	1144844	\N	\N	EFO	3	EFO	neoplasm	adenosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007134	"A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." []	2027403	\N	\N	EFO	4	EFO	disease	adenosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007134	"A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." []	3178842	\N	\N	EFO	5	EFO	disposition	adenosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007134	"A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." []	4388434	\N	\N	EFO	6	EFO	material property	adenosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007134	"A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." []	5408897	\N	\N	EFO	7	EFO	experimental factor	adenosarcoma
EFO:0007135	\N	\N	"An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." []	EFO:0007135	"An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." []	68383	\N	\N	EFO	0	EFO	adult-onset Still's disease	adult-onset Still's disease
EFO:0005856	EFO:0007135	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:0007135	"An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." []	210470	\N	\N	EFO	1	EFO	arthritis	adult-onset Still's disease
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0007135	"An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." []	563656	\N	\N	EFO	2	EFO	autoimmune disease	adult-onset Still's disease
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0007135	"An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." []	563657	\N	\N	EFO	2	EFO	rheumatic disease	adult-onset Still's disease
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007135	"An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." []	1144845	\N	\N	EFO	3	EFO	immune system disease	adult-onset Still's disease
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0007135	"An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." []	1144846	\N	\N	EFO	3	EFO	skeletal system disease	adult-onset Still's disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007135	"An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." []	2027404	\N	\N	EFO	4	EFO	disease	adult-onset Still's disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007135	"An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." []	2027405	\N	\N	EFO	4	EFO	disease	adult-onset Still's disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007135	"An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." []	3178843	\N	\N	EFO	5	EFO	disposition	adult-onset Still's disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007135	"An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." []	4388435	\N	\N	EFO	6	EFO	material property	adult-onset Still's disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007135	"An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." []	5408898	\N	\N	EFO	7	EFO	experimental factor	adult-onset Still's disease
EFO:0007136	\N	\N	"A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." []	EFO:0007136	"A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." []	68384	\N	\N	EFO	0	EFO	agnosia	agnosia
EFO:0000677	EFO:0007136	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0007136	"A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." []	210471	\N	\N	EFO	1	EFO	mental or behavioural disorder	agnosia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0007136	"A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." []	563658	\N	\N	EFO	2	EFO	brain disease	agnosia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007136	"A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." []	1144847	\N	\N	EFO	3	EFO	nervous system disease	agnosia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007136	"A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." []	2027406	\N	\N	EFO	4	EFO	disease	agnosia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007136	"A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." []	3178844	\N	\N	EFO	5	EFO	disposition	agnosia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007136	"A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." []	4388436	\N	\N	EFO	6	EFO	material property	agnosia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007136	"A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." []	5408899	\N	\N	EFO	7	EFO	experimental factor	agnosia
EFO:0007137	\N	\N	"A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss." []	EFO:0007137	"A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss." []	68385	\N	\N	EFO	0	EFO	AIDS related complex	AIDS related complex
EFO:0000764	EFO:0007137	\N	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	EFO:0007137	"A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss." []	210472	\N	\N	EFO	1	EFO	HIV infection	AIDS related complex
EFO:0000763	EFO:0000764	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007137	"A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss." []	563659	\N	\N	EFO	2	EFO	viral disease	AIDS related complex
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007137	"A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss." []	1144848	\N	\N	EFO	3	EFO	infectious disease	AIDS related complex
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007137	"A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss." []	2027407	\N	\N	EFO	4	EFO	disease	AIDS related complex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007137	"A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss." []	3178845	\N	\N	EFO	5	EFO	disposition	AIDS related complex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007137	"A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss." []	4388437	\N	\N	EFO	6	EFO	material property	AIDS related complex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007137	"A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss." []	5408900	\N	\N	EFO	7	EFO	experimental factor	AIDS related complex
EFO:0007138	\N	\N	"A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness." []	EFO:0007138	"A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness." []	68386	\N	\N	EFO	0	EFO	akinetic mutism	akinetic mutism
EFO:0005774	EFO:0007138	\N	"A disease affecting the brain or part of the brain." []	EFO:0007138	"A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness." []	210473	\N	\N	EFO	1	EFO	brain disease	akinetic mutism
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007138	"A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness." []	563660	\N	\N	EFO	2	EFO	nervous system disease	akinetic mutism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007138	"A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness." []	1144849	\N	\N	EFO	3	EFO	disease	akinetic mutism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007138	"A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness." []	2027408	\N	\N	EFO	4	EFO	disposition	akinetic mutism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007138	"A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness." []	3178846	\N	\N	EFO	5	EFO	material property	akinetic mutism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007138	"A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness." []	4388438	\N	\N	EFO	6	EFO	experimental factor	akinetic mutism
EFO:0007139	\N	\N	"A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." []	EFO:0007139	"A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." []	68387	\N	\N	EFO	0	EFO	aleutian mink disease	aleutian mink disease
EFO:0000763	EFO:0007139	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007139	"A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." []	210474	\N	\N	EFO	1	EFO	viral disease	aleutian mink disease
EFO:0004264	EFO:0007139	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0007139	"A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." []	210475	\N	\N	EFO	1	EFO	vascular disease	aleutian mink disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007139	"A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." []	563661	\N	\N	EFO	2	EFO	infectious disease	aleutian mink disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007139	"A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." []	563662	\N	\N	EFO	2	EFO	cardiovascular disease	aleutian mink disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007139	"A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." []	1144850	\N	\N	EFO	3	EFO	disease	aleutian mink disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007139	"A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." []	1144851	\N	\N	EFO	3	EFO	disease	aleutian mink disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007139	"A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." []	2027409	\N	\N	EFO	4	EFO	disposition	aleutian mink disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007139	"A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." []	3178847	\N	\N	EFO	5	EFO	material property	aleutian mink disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007139	"A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." []	4388439	\N	\N	EFO	6	EFO	experimental factor	aleutian mink disease
EFO:0007140	\N	\N	"An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever." []	EFO:0007140	"An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever." []	68388	\N	\N	EFO	0	EFO	allergic bronchopulmonary aspergillosis	allergic bronchopulmonary aspergillosis
EFO:0007157	EFO:0007140	\N	"An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system." []	EFO:0007140	"An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever." []	210476	\N	\N	EFO	1	EFO	aspergillosis	allergic bronchopulmonary aspergillosis
EFO:0000540	EFO:0007157	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007140	"An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever." []	563663	\N	\N	EFO	2	EFO	immune system disease	allergic bronchopulmonary aspergillosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007140	"An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever." []	1144852	\N	\N	EFO	3	EFO	disease	allergic bronchopulmonary aspergillosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007140	"An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever." []	2027410	\N	\N	EFO	4	EFO	disposition	allergic bronchopulmonary aspergillosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007140	"An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever." []	3178848	\N	\N	EFO	5	EFO	material property	allergic bronchopulmonary aspergillosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007140	"An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever." []	4388440	\N	\N	EFO	6	EFO	experimental factor	allergic bronchopulmonary aspergillosis
EFO:0007141	\N	\N	"A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." []	EFO:0007141	"A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." []	68389	\N	\N	EFO	0	EFO	allergic conjunctivitis	allergic conjunctivitis
EFO:1000203	EFO:0007141	\N	"Any disorder of the conjunctiva. " []	EFO:0007141	"A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." []	210477	\N	\N	EFO	1	EFO	Conjunctival Disorder	allergic conjunctivitis
EFO:0003966	EFO:1000203	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0007141	"A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." []	563664	\N	\N	EFO	2	EFO	eye disease	allergic conjunctivitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007141	"A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." []	1144853	\N	\N	EFO	3	EFO	disease	allergic conjunctivitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007141	"A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." []	2027411	\N	\N	EFO	4	EFO	disposition	allergic conjunctivitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007141	"A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." []	3178849	\N	\N	EFO	5	EFO	material property	allergic conjunctivitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007141	"A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." []	4388441	\N	\N	EFO	6	EFO	experimental factor	allergic conjunctivitis
EFO:0007142	\N	\N	"A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite." []	EFO:0007142	"A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite." []	68390	\N	\N	EFO	0	EFO	Alphavirus infectious disease	Alphavirus infectious disease
EFO:0000763	EFO:0007142	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007142	"A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite." []	210478	\N	\N	EFO	1	EFO	viral disease	Alphavirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007142	"A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite." []	563665	\N	\N	EFO	2	EFO	infectious disease	Alphavirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007142	"A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite." []	1144854	\N	\N	EFO	3	EFO	disease	Alphavirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007142	"A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite." []	2027412	\N	\N	EFO	4	EFO	disposition	Alphavirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007142	"A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite." []	3178850	\N	\N	EFO	5	EFO	material property	Alphavirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007142	"A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite." []	4388442	\N	\N	EFO	6	EFO	experimental factor	Alphavirus infectious disease
EFO:0007143	\N	\N	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	EFO:0007143	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	68391	\N	\N	EFO	0	EFO	alveolar soft part sarcoma	alveolar soft part sarcoma
EFO:0000691	EFO:0007143	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0007143	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	210479	\N	\N	EFO	1	EFO	sarcoma	alveolar soft part sarcoma
EFO:0005950	EFO:0007143	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0007143	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	210480	\N	\N	EFO	1	EFO	head and neck neoplasia	alveolar soft part sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007143	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	563666	\N	\N	EFO	2	EFO	cancer	alveolar soft part sarcoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007143	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	563667	\N	\N	EFO	2	EFO	head disease	alveolar soft part sarcoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007143	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	563668	\N	\N	EFO	2	EFO	neoplasm	alveolar soft part sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007143	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	1144855	\N	\N	EFO	3	EFO	neoplasm	alveolar soft part sarcoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007143	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	1144856	\N	\N	EFO	3	EFO	disease	alveolar soft part sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007143	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	2027413	\N	\N	EFO	4	EFO	disease	alveolar soft part sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007143	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	2999848	\N	\N	EFO	5	EFO	disposition	alveolar soft part sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007143	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	4132706	\N	\N	EFO	6	EFO	material property	alveolar soft part sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007143	"A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." []	5181029	\N	\N	EFO	7	EFO	experimental factor	alveolar soft part sarcoma
EFO:0007144	\N	\N	"A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs." []	EFO:0007144	"A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs." []	68392	\N	\N	EFO	0	EFO	amebiasis	amebiasis
EFO:0001067	EFO:0007144	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007144	"A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs." []	210481	\N	\N	EFO	1	EFO	parasitic infection	amebiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007144	"A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs." []	563669	\N	\N	EFO	2	EFO	infectious disease	amebiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007144	"A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs." []	1144858	\N	\N	EFO	3	EFO	disease	amebiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007144	"A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs." []	2027415	\N	\N	EFO	4	EFO	disposition	amebiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007144	"A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs." []	3178852	\N	\N	EFO	5	EFO	material property	amebiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007144	"A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs." []	4388444	\N	\N	EFO	6	EFO	experimental factor	amebiasis
EFO:0007145	\N	\N	"A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition." []	EFO:0007145	"A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition." []	68393	\N	\N	EFO	0	EFO	ancylostomiasis	ancylostomiasis
EFO:0001067	EFO:0007145	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007145	"A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition." []	210482	\N	\N	EFO	1	EFO	parasitic infection	ancylostomiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007145	"A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition." []	563670	\N	\N	EFO	2	EFO	infectious disease	ancylostomiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007145	"A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition." []	1144859	\N	\N	EFO	3	EFO	disease	ancylostomiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007145	"A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition." []	2027416	\N	\N	EFO	4	EFO	disposition	ancylostomiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007145	"A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition." []	3178853	\N	\N	EFO	5	EFO	material property	ancylostomiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007145	"A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition." []	4388445	\N	\N	EFO	6	EFO	experimental factor	ancylostomiasis
EFO:0007146	\N	\N	"A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung." []	EFO:0007146	"A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung." []	68394	\N	\N	EFO	0	EFO	anisakiasis	anisakiasis
EFO:0001067	EFO:0007146	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007146	"A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung." []	210483	\N	\N	EFO	1	EFO	parasitic infection	anisakiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007146	"A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung." []	563671	\N	\N	EFO	2	EFO	infectious disease	anisakiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007146	"A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung." []	1144860	\N	\N	EFO	3	EFO	disease	anisakiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007146	"A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung." []	2027417	\N	\N	EFO	4	EFO	disposition	anisakiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007146	"A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung." []	3178854	\N	\N	EFO	5	EFO	material property	anisakiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007146	"A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung." []	4388446	\N	\N	EFO	6	EFO	experimental factor	anisakiasis
EFO:0007147	\N	\N	"A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." []	EFO:0007147	"A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." []	68395	\N	\N	EFO	0	EFO	anogenital venereal wart	anogenital venereal wart
EFO:0000701	EFO:0007147	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007147	"A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." []	210484	\N	\N	EFO	1	EFO	skin disease	anogenital venereal wart
EFO:0000763	EFO:0007147	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007147	"A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." []	210485	\N	\N	EFO	1	EFO	viral disease	anogenital venereal wart
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007147	"A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." []	563672	\N	\N	EFO	2	EFO	disease	anogenital venereal wart
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007147	"A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." []	563673	\N	\N	EFO	2	EFO	infectious disease	anogenital venereal wart
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007147	"A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." []	2027419	\N	\N	EFO	4	EFO	disposition	anogenital venereal wart
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007147	"A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." []	1144862	\N	\N	EFO	3	EFO	disease	anogenital venereal wart
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007147	"A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." []	2999849	\N	\N	EFO	5	EFO	material property	anogenital venereal wart
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007147	"A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." []	4132707	\N	\N	EFO	6	EFO	experimental factor	anogenital venereal wart
EFO:0007148	\N	\N	"An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle." []	EFO:0007148	"An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle." []	68396	\N	\N	EFO	0	EFO	aortic valve insufficiency	aortic valve insufficiency
EFO:0005775	EFO:0007148	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:0007148	"An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle." []	210486	\N	\N	EFO	1	EFO	aortic disease	aortic valve insufficiency
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0007148	"An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle." []	563674	\N	\N	EFO	2	EFO	vascular disease	aortic valve insufficiency
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007148	"An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle." []	1144863	\N	\N	EFO	3	EFO	cardiovascular disease	aortic valve insufficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007148	"An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle." []	2027420	\N	\N	EFO	4	EFO	disease	aortic valve insufficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007148	"An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle." []	3178856	\N	\N	EFO	5	EFO	disposition	aortic valve insufficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007148	"An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle." []	4388447	\N	\N	EFO	6	EFO	material property	aortic valve insufficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007148	"An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle." []	5408901	\N	\N	EFO	7	EFO	experimental factor	aortic valve insufficiency
EFO:0007149	\N	\N	"A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever." []	EFO:0007149	"A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever." []	68397	\N	\N	EFO	0	EFO	appendicitis	appendicitis
EFO:0000405	EFO:0007149	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007149	"A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever." []	210487	\N	\N	EFO	1	EFO	digestive system disease	appendicitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007149	"A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever." []	563675	\N	\N	EFO	2	EFO	disease	appendicitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007149	"A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever." []	1144864	\N	\N	EFO	3	EFO	disposition	appendicitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007149	"A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever." []	2027421	\N	\N	EFO	4	EFO	material property	appendicitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007149	"A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever." []	3178857	\N	\N	EFO	5	EFO	experimental factor	appendicitis
EFO:0007150	\N	\N	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses." []	EFO:0007150	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses." []	68398	\N	\N	EFO	0	EFO	Arenaviridae infectious disease	Arenaviridae infectious disease
EFO:0000763	EFO:0007150	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007150	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses." []	210488	\N	\N	EFO	1	EFO	viral disease	Arenaviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007150	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses." []	563676	\N	\N	EFO	2	EFO	infectious disease	Arenaviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007150	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses." []	1144865	\N	\N	EFO	3	EFO	disease	Arenaviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007150	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses." []	2027422	\N	\N	EFO	4	EFO	disposition	Arenaviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007150	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses." []	3178858	\N	\N	EFO	5	EFO	material property	Arenaviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007150	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses." []	4388448	\N	\N	EFO	6	EFO	experimental factor	Arenaviridae infectious disease
EFO:0007151	\N	\N	"A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." []	EFO:0007151	"A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." []	68399	\N	\N	EFO	0	EFO	Arenavirus hemorrhagic fever	Arenavirus hemorrhagic fever
EFO:0000763	EFO:0007151	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007151	"A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." []	210489	\N	\N	EFO	1	EFO	viral disease	Arenavirus hemorrhagic fever
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007151	"A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." []	563677	\N	\N	EFO	2	EFO	infectious disease	Arenavirus hemorrhagic fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007151	"A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." []	1144866	\N	\N	EFO	3	EFO	disease	Arenavirus hemorrhagic fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007151	"A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." []	2027423	\N	\N	EFO	4	EFO	disposition	Arenavirus hemorrhagic fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007151	"A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." []	3178859	\N	\N	EFO	5	EFO	material property	Arenavirus hemorrhagic fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007151	"A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." []	4388449	\N	\N	EFO	6	EFO	experimental factor	Arenavirus hemorrhagic fever
EFO:0007152	\N	\N	"A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus." []	EFO:0007152	"A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus." []	68400	\N	\N	EFO	0	EFO	Arterivirus infectious disease	Arterivirus infectious disease
EFO:0000763	EFO:0007152	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007152	"A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus." []	210490	\N	\N	EFO	1	EFO	viral disease	Arterivirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007152	"A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus." []	563678	\N	\N	EFO	2	EFO	infectious disease	Arterivirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007152	"A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus." []	1144867	\N	\N	EFO	3	EFO	disease	Arterivirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007152	"A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus." []	2027424	\N	\N	EFO	4	EFO	disposition	Arterivirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007152	"A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus." []	3178860	\N	\N	EFO	5	EFO	material property	Arterivirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007152	"A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus." []	4388450	\N	\N	EFO	6	EFO	experimental factor	Arterivirus infectious disease
EFO:0007153	\N	\N	"A pneumoconiosis caused by inhalation and retention of asbestos fibers." []	EFO:0007153	"A pneumoconiosis caused by inhalation and retention of asbestos fibers." []	68401	\N	\N	EFO	0	EFO	asbestosis	asbestosis
Orphanet:182098	EFO:0007153	\N	"" []	EFO:0007153	"A pneumoconiosis caused by inhalation and retention of asbestos fibers." []	210491	\N	\N	EFO	1	EFO	pneumoconiosis	asbestosis
EFO:0000771	Orphanet:182098	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007153	"A pneumoconiosis caused by inhalation and retention of asbestos fibers." []	563679	\N	\N	EFO	2	EFO	bacterial disease	asbestosis
EFO:0003818	Orphanet:182098	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007153	"A pneumoconiosis caused by inhalation and retention of asbestos fibers." []	563680	\N	\N	EFO	2	EFO	lung disease	asbestosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007153	"A pneumoconiosis caused by inhalation and retention of asbestos fibers." []	1144868	\N	\N	EFO	3	EFO	infectious disease	asbestosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007153	"A pneumoconiosis caused by inhalation and retention of asbestos fibers." []	1144869	\N	\N	EFO	3	EFO	respiratory system disease	asbestosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007153	"A pneumoconiosis caused by inhalation and retention of asbestos fibers." []	2027425	\N	\N	EFO	4	EFO	disease	asbestosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007153	"A pneumoconiosis caused by inhalation and retention of asbestos fibers." []	2027426	\N	\N	EFO	4	EFO	disease	asbestosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007153	"A pneumoconiosis caused by inhalation and retention of asbestos fibers." []	3178861	\N	\N	EFO	5	EFO	disposition	asbestosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007153	"A pneumoconiosis caused by inhalation and retention of asbestos fibers." []	4388451	\N	\N	EFO	6	EFO	material property	asbestosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007153	"A pneumoconiosis caused by inhalation and retention of asbestos fibers." []	5408902	\N	\N	EFO	7	EFO	experimental factor	asbestosis
EFO:0007154	\N	\N	"A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." []	EFO:0007154	"A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." []	68402	\N	\N	EFO	0	EFO	ascariasis	ascariasis
EFO:0000405	EFO:0007154	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007154	"A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." []	210492	\N	\N	EFO	1	EFO	digestive system disease	ascariasis
EFO:0001067	EFO:0007154	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007154	"A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." []	210493	\N	\N	EFO	1	EFO	parasitic infection	ascariasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007154	"A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." []	563681	\N	\N	EFO	2	EFO	disease	ascariasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007154	"A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." []	563682	\N	\N	EFO	2	EFO	infectious disease	ascariasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007154	"A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." []	2027428	\N	\N	EFO	4	EFO	disposition	ascariasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007154	"A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." []	1144871	\N	\N	EFO	3	EFO	disease	ascariasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007154	"A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." []	2999850	\N	\N	EFO	5	EFO	material property	ascariasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007154	"A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." []	4132708	\N	\N	EFO	6	EFO	experimental factor	ascariasis
EFO:0007155	\N	\N	"A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." []	EFO:0007155	"A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." []	68403	\N	\N	EFO	0	EFO	ascaridiasis	ascaridiasis
EFO:0000405	EFO:0007155	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007155	"A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." []	210494	\N	\N	EFO	1	EFO	digestive system disease	ascaridiasis
EFO:0001067	EFO:0007155	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007155	"A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." []	210495	\N	\N	EFO	1	EFO	parasitic infection	ascaridiasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007155	"A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." []	563683	\N	\N	EFO	2	EFO	disease	ascaridiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007155	"A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." []	563684	\N	\N	EFO	2	EFO	infectious disease	ascaridiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007155	"A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." []	2027430	\N	\N	EFO	4	EFO	disposition	ascaridiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007155	"A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." []	1144873	\N	\N	EFO	3	EFO	disease	ascaridiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007155	"A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." []	2999851	\N	\N	EFO	5	EFO	material property	ascaridiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007155	"A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." []	4132709	\N	\N	EFO	6	EFO	experimental factor	ascaridiasis
EFO:0007156	\N	\N	"A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end." []	EFO:0007156	"A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end." []	68404	\N	\N	EFO	0	EFO	Ascaridida infectious disease	Ascaridida infectious disease
EFO:0001067	EFO:0007156	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007156	"A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end." []	210496	\N	\N	EFO	1	EFO	parasitic infection	Ascaridida infectious disease
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007156	"A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end." []	563685	\N	\N	EFO	2	EFO	infectious disease	Ascaridida infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007156	"A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end." []	1144874	\N	\N	EFO	3	EFO	disease	Ascaridida infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007156	"A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end." []	2027431	\N	\N	EFO	4	EFO	disposition	Ascaridida infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007156	"A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end." []	3178864	\N	\N	EFO	5	EFO	material property	Ascaridida infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007156	"A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end." []	4388452	\N	\N	EFO	6	EFO	experimental factor	Ascaridida infectious disease
EFO:0007157	\N	\N	"An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system." []	EFO:0007157	"An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system." []	68405	\N	\N	EFO	0	EFO	aspergillosis	aspergillosis
EFO:0000540	EFO:0007157	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007157	"An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system." []	210497	\N	\N	EFO	1	EFO	immune system disease	aspergillosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007157	"An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system." []	563686	\N	\N	EFO	2	EFO	disease	aspergillosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007157	"An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system." []	1144875	\N	\N	EFO	3	EFO	disposition	aspergillosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007157	"An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system." []	2027432	\N	\N	EFO	4	EFO	material property	aspergillosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007157	"An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system." []	3178865	\N	\N	EFO	5	EFO	experimental factor	aspergillosis
EFO:0007158	\N	\N	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses." []	EFO:0007158	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses." []	68406	\N	\N	EFO	0	EFO	Astroviridae infectious disease	Astroviridae infectious disease
EFO:0000763	EFO:0007158	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007158	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses." []	210498	\N	\N	EFO	1	EFO	viral disease	Astroviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007158	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses." []	563687	\N	\N	EFO	2	EFO	infectious disease	Astroviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007158	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses." []	1144876	\N	\N	EFO	3	EFO	disease	Astroviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007158	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses." []	2027433	\N	\N	EFO	4	EFO	disposition	Astroviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007158	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses." []	3178866	\N	\N	EFO	5	EFO	material property	Astroviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007158	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses." []	4388453	\N	\N	EFO	6	EFO	experimental factor	Astroviridae infectious disease
EFO:0007159	\N	\N	"A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues." []	EFO:0007159	"A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues." []	68407	\N	\N	EFO	0	EFO	atrophic rhinitis	atrophic rhinitis
EFO:0000684	EFO:0007159	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007159	"A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues." []	210499	\N	\N	EFO	1	EFO	respiratory system disease	atrophic rhinitis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007159	"A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues." []	563688	\N	\N	EFO	2	EFO	disease	atrophic rhinitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007159	"A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues." []	1144877	\N	\N	EFO	3	EFO	disposition	atrophic rhinitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007159	"A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues." []	2027434	\N	\N	EFO	4	EFO	material property	atrophic rhinitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007159	"A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues." []	3178867	\N	\N	EFO	5	EFO	experimental factor	atrophic rhinitis
EFO:0007160	\N	\N	"A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." []	EFO:0007160	"A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." []	68408	\N	\N	EFO	0	EFO	autoimmune thrombocytopenic purpura	autoimmune thrombocytopenic purpura
EFO:0005140	EFO:0007160	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0007160	"A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." []	210500	\N	\N	EFO	1	EFO	autoimmune disease	autoimmune thrombocytopenic purpura
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007160	"A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." []	563689	\N	\N	EFO	2	EFO	immune system disease	autoimmune thrombocytopenic purpura
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007160	"A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." []	1144878	\N	\N	EFO	3	EFO	disease	autoimmune thrombocytopenic purpura
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007160	"A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." []	2027435	\N	\N	EFO	4	EFO	disposition	autoimmune thrombocytopenic purpura
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007160	"A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." []	3178868	\N	\N	EFO	5	EFO	material property	autoimmune thrombocytopenic purpura
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007160	"A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." []	4388454	\N	\N	EFO	6	EFO	experimental factor	autoimmune thrombocytopenic purpura
EFO:0007161	\N	\N	"A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes." []	EFO:0007161	"A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes." []	68409	\N	\N	EFO	0	EFO	Avulavirus infectious disease	Avulavirus infectious disease
EFO:0000763	EFO:0007161	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007161	"A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes." []	210501	\N	\N	EFO	1	EFO	viral disease	Avulavirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007161	"A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes." []	563690	\N	\N	EFO	2	EFO	infectious disease	Avulavirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007161	"A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes." []	1144879	\N	\N	EFO	3	EFO	disease	Avulavirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007161	"A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes." []	2027436	\N	\N	EFO	4	EFO	disposition	Avulavirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007161	"A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes." []	3178869	\N	\N	EFO	5	EFO	material property	Avulavirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007161	"A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes." []	4388455	\N	\N	EFO	6	EFO	experimental factor	Avulavirus infectious disease
EFO:0007162	\N	\N	"A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease." []	EFO:0007162	"A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease." []	68410	\N	\N	EFO	0	EFO	babesiosis	babesiosis
EFO:0001067	EFO:0007162	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007162	"A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease." []	210502	\N	\N	EFO	1	EFO	parasitic infection	babesiosis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007162	"A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease." []	563691	\N	\N	EFO	2	EFO	infectious disease	babesiosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007162	"A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease." []	1144880	\N	\N	EFO	3	EFO	disease	babesiosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007162	"A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease." []	2027437	\N	\N	EFO	4	EFO	disposition	babesiosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007162	"A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease." []	3178870	\N	\N	EFO	5	EFO	material property	babesiosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007162	"A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease." []	4388456	\N	\N	EFO	6	EFO	experimental factor	babesiosis
EFO:0007163	\N	\N	"A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." []	EFO:0007163	"A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." []	68411	\N	\N	EFO	0	EFO	balantidiasis	balantidiasis
EFO:0001067	EFO:0007163	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007163	"A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." []	210503	\N	\N	EFO	1	EFO	parasitic infection	balantidiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007163	"A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." []	563692	\N	\N	EFO	2	EFO	infectious disease	balantidiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007163	"A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." []	1144881	\N	\N	EFO	3	EFO	disease	balantidiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007163	"A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." []	2027438	\N	\N	EFO	4	EFO	disposition	balantidiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007163	"A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." []	3178871	\N	\N	EFO	5	EFO	material property	balantidiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007163	"A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." []	4388457	\N	\N	EFO	6	EFO	experimental factor	balantidiasis
EFO:0007164	\N	\N	"An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria." []	EFO:0007164	"An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria." []	68412	\N	\N	EFO	0	EFO	Balkan nephropathy	Balkan nephropathy
EFO:0000405	EFO:0007164	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007164	"An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria." []	210504	\N	\N	EFO	1	EFO	digestive system disease	Balkan nephropathy
EFO:0003086	EFO:0007164	\N	"A disease affecting the kidneys" []	EFO:0007164	"An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria." []	210505	\N	\N	EFO	1	EFO	kidney disease	Balkan nephropathy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007164	"An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria." []	563693	\N	\N	EFO	2	EFO	disease	Balkan nephropathy
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007164	"An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria." []	563694	\N	\N	EFO	2	EFO	disease	Balkan nephropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007164	"An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria." []	1144882	\N	\N	EFO	3	EFO	disposition	Balkan nephropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007164	"An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria." []	2027439	\N	\N	EFO	4	EFO	material property	Balkan nephropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007164	"An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria." []	3178872	\N	\N	EFO	5	EFO	experimental factor	Balkan nephropathy
EFO:0007165	\N	\N	"A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers." []	EFO:0007165	"A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers." []	68413	\N	\N	EFO	0	EFO	Barre-Lieou syndrome	Barre-Lieou syndrome
EFO:0000618	EFO:0007165	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007165	"A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers." []	210506	\N	\N	EFO	1	EFO	nervous system disease	Barre-Lieou syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007165	"A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers." []	563695	\N	\N	EFO	2	EFO	disease	Barre-Lieou syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007165	"A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers." []	1144883	\N	\N	EFO	3	EFO	disposition	Barre-Lieou syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007165	"A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers." []	2027440	\N	\N	EFO	4	EFO	material property	Barre-Lieou syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007165	"A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers." []	3178873	\N	\N	EFO	5	EFO	experimental factor	Barre-Lieou syndrome
EFO:0007166	\N	\N	"A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella." []	EFO:0007166	"A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella." []	68414	\N	\N	EFO	0	EFO	bartonellosis	bartonellosis
EFO:0000771	EFO:0007166	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007166	"A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella." []	210507	\N	\N	EFO	1	EFO	bacterial disease	bartonellosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007166	"A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella." []	563696	\N	\N	EFO	2	EFO	infectious disease	bartonellosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007166	"A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella." []	1144884	\N	\N	EFO	3	EFO	disease	bartonellosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007166	"A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella." []	2027441	\N	\N	EFO	4	EFO	disposition	bartonellosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007166	"A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella." []	3178874	\N	\N	EFO	5	EFO	material property	bartonellosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007166	"A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella." []	4388458	\N	\N	EFO	6	EFO	experimental factor	bartonellosis
EFO:0007167	\N	\N	"A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)." []	EFO:0007167	"A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)." []	68415	\N	\N	EFO	0	EFO	Bell's palsy	Bell's palsy
EFO:1000631	EFO:0007167	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	EFO:0007167	"A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)." []	210508	\N	\N	EFO	1	EFO	palsy	Bell's palsy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007167	"A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)." []	563697	\N	\N	EFO	2	EFO	nervous system disease	Bell's palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007167	"A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)." []	1144885	\N	\N	EFO	3	EFO	disease	Bell's palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007167	"A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)." []	2027442	\N	\N	EFO	4	EFO	disposition	Bell's palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007167	"A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)." []	3178875	\N	\N	EFO	5	EFO	material property	Bell's palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007167	"A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)." []	4388459	\N	\N	EFO	6	EFO	experimental factor	Bell's palsy
EFO:0007168	\N	\N	"A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." []	EFO:0007168	"A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." []	68416	\N	\N	EFO	0	EFO	berylliosis	berylliosis
Orphanet:182098	EFO:0007168	\N	"" []	EFO:0007168	"A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." []	210509	\N	\N	EFO	1	EFO	pneumoconiosis	berylliosis
EFO:0000771	Orphanet:182098	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007168	"A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." []	563698	\N	\N	EFO	2	EFO	bacterial disease	berylliosis
EFO:0003818	Orphanet:182098	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007168	"A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." []	563699	\N	\N	EFO	2	EFO	lung disease	berylliosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007168	"A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." []	1144886	\N	\N	EFO	3	EFO	infectious disease	berylliosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007168	"A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." []	1144887	\N	\N	EFO	3	EFO	respiratory system disease	berylliosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007168	"A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." []	2027443	\N	\N	EFO	4	EFO	disease	berylliosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007168	"A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." []	2027444	\N	\N	EFO	4	EFO	disease	berylliosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007168	"A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." []	3178876	\N	\N	EFO	5	EFO	disposition	berylliosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007168	"A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." []	4388460	\N	\N	EFO	6	EFO	material property	berylliosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007168	"A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." []	5408903	\N	\N	EFO	7	EFO	experimental factor	berylliosis
EFO:0007169	\N	\N	"A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree." []	EFO:0007169	"A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree." []	68417	\N	\N	EFO	0	EFO	biliary dyskinesia	biliary dyskinesia
EFO:0003832	EFO:0007169	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:0007169	"A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree." []	210510	\N	\N	EFO	1	EFO	gallbladder disease	biliary dyskinesia
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007169	"A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree." []	563700	\N	\N	EFO	2	EFO	digestive system disease	biliary dyskinesia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007169	"A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree." []	1144888	\N	\N	EFO	3	EFO	disease	biliary dyskinesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007169	"A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree." []	2027445	\N	\N	EFO	4	EFO	disposition	biliary dyskinesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007169	"A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree." []	3178877	\N	\N	EFO	5	EFO	material property	biliary dyskinesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007169	"A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree." []	4388461	\N	\N	EFO	6	EFO	experimental factor	biliary dyskinesia
EFO:0007170	\N	\N	"An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen." []	EFO:0007170	"An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen." []	68418	\N	\N	EFO	0	EFO	bird fancier's lung	bird fancier's lung
EFO:0003785	EFO:0007170	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0007170	"An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen." []	210511	\N	\N	EFO	1	EFO	allergy	bird fancier's lung
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007170	"An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen." []	563701	\N	\N	EFO	2	EFO	immune system disease	bird fancier's lung
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007170	"An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen." []	1144889	\N	\N	EFO	3	EFO	disease	bird fancier's lung
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007170	"An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen." []	2027446	\N	\N	EFO	4	EFO	disposition	bird fancier's lung
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007170	"An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen." []	3178878	\N	\N	EFO	5	EFO	material property	bird fancier's lung
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007170	"An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen." []	4388462	\N	\N	EFO	6	EFO	experimental factor	bird fancier's lung
EFO:0007171	\N	\N	"A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair." []	EFO:0007171	"A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair." []	68419	\N	\N	EFO	0	EFO	black piedra	black piedra
EFO:0005741	EFO:0007171	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007171	"A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair." []	210512	\N	\N	EFO	1	EFO	infectious disease	black piedra
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007171	"A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair." []	563702	\N	\N	EFO	2	EFO	disease	black piedra
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007171	"A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair." []	1144890	\N	\N	EFO	3	EFO	disposition	black piedra
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007171	"A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair." []	2027447	\N	\N	EFO	4	EFO	material property	black piedra
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007171	"A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair." []	3178879	\N	\N	EFO	5	EFO	experimental factor	black piedra
EFO:0007172	\N	\N	"A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." []	EFO:0007172	"A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." []	68420	\N	\N	EFO	0	EFO	blackwater fever	blackwater fever
EFO:0001068	EFO:0007172	\N	"Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." []	EFO:0007172	"A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." []	210513	\N	\N	EFO	1	EFO	malaria	blackwater fever
EFO:0001067	EFO:0001068	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007172	"A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." []	563703	\N	\N	EFO	2	EFO	parasitic infection	blackwater fever
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007172	"A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." []	1144891	\N	\N	EFO	3	EFO	infectious disease	blackwater fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007172	"A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." []	2027448	\N	\N	EFO	4	EFO	disease	blackwater fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007172	"A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." []	3178880	\N	\N	EFO	5	EFO	disposition	blackwater fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007172	"A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." []	4388463	\N	\N	EFO	6	EFO	material property	blackwater fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007172	"A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." []	5408904	\N	\N	EFO	7	EFO	experimental factor	blackwater fever
EFO:0007173	\N	\N	"A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." []	EFO:0007173	"A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." []	68421	\N	\N	EFO	0	EFO	Blastocystis hominis infectious disease	Blastocystis hominis infectious disease
EFO:0001067	EFO:0007173	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007173	"A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." []	210514	\N	\N	EFO	1	EFO	parasitic infection	Blastocystis hominis infectious disease
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007173	"A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." []	563704	\N	\N	EFO	2	EFO	infectious disease	Blastocystis hominis infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007173	"A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." []	1144892	\N	\N	EFO	3	EFO	disease	Blastocystis hominis infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007173	"A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." []	2027449	\N	\N	EFO	4	EFO	disposition	Blastocystis hominis infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007173	"A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." []	3178881	\N	\N	EFO	5	EFO	material property	Blastocystis hominis infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007173	"A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." []	4388464	\N	\N	EFO	6	EFO	experimental factor	Blastocystis hominis infectious disease
EFO:0007174	\N	\N	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening." []	EFO:0007174	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening." []	68422	\N	\N	EFO	0	EFO	blastomycosis	blastomycosis
EFO:0005741	EFO:0007174	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007174	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening." []	210515	\N	\N	EFO	1	EFO	infectious disease	blastomycosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007174	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening." []	563705	\N	\N	EFO	2	EFO	disease	blastomycosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007174	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening." []	1144893	\N	\N	EFO	3	EFO	disposition	blastomycosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007174	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening." []	2027450	\N	\N	EFO	4	EFO	material property	blastomycosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007174	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening." []	3178882	\N	\N	EFO	5	EFO	experimental factor	blastomycosis
EFO:0007175	\N	\N	"An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption." []	EFO:0007175	"An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption." []	68423	\N	\N	EFO	0	EFO	blind loop syndrome	blind loop syndrome
EFO:0000405	EFO:0007175	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007175	"An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption." []	210516	\N	\N	EFO	1	EFO	digestive system disease	blind loop syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007175	"An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption." []	563706	\N	\N	EFO	2	EFO	disease	blind loop syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007175	"An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption." []	1144894	\N	\N	EFO	3	EFO	disposition	blind loop syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007175	"An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption." []	2027451	\N	\N	EFO	4	EFO	material property	blind loop syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007175	"An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption." []	3178883	\N	\N	EFO	5	EFO	experimental factor	blind loop syndrome
EFO:0007176	\N	\N	"A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell)." []	EFO:0007176	"A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell)." []	68424	\N	\N	EFO	0	EFO	bone giant cell tumor	bone giant cell tumor
EFO:0000691	EFO:0007176	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0007176	"A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell)." []	210517	\N	\N	EFO	1	EFO	sarcoma	bone giant cell tumor
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007176	"A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell)." []	563707	\N	\N	EFO	2	EFO	cancer	bone giant cell tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007176	"A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell)." []	1144895	\N	\N	EFO	3	EFO	neoplasm	bone giant cell tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007176	"A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell)." []	2027452	\N	\N	EFO	4	EFO	disease	bone giant cell tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007176	"A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell)." []	3178884	\N	\N	EFO	5	EFO	disposition	bone giant cell tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007176	"A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell)." []	4388465	\N	\N	EFO	6	EFO	material property	bone giant cell tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007176	"A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell)." []	5408905	\N	\N	EFO	7	EFO	experimental factor	bone giant cell tumor
EFO:0007177	\N	\N	"A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation." []	EFO:0007177	"A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation." []	68425	\N	\N	EFO	0	EFO	border disease	border disease
EFO:0005932	EFO:0007177	\N	"A disease that occurs in animals." []	EFO:0007177	"A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation." []	210518	\N	\N	EFO	1	EFO	animal disease	border disease
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007177	"A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation." []	563708	\N	\N	EFO	2	EFO	disease	border disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007177	"A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation." []	1144896	\N	\N	EFO	3	EFO	disposition	border disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007177	"A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation." []	2027453	\N	\N	EFO	4	EFO	material property	border disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007177	"A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation." []	3178885	\N	\N	EFO	5	EFO	experimental factor	border disease
EFO:0007178	\N	\N	"A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." []	EFO:0007178	"A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." []	68426	\N	\N	EFO	0	EFO	borna disease	borna disease
EFO:0001423	EFO:0007178	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:0007178	"A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." []	210519	\N	\N	EFO	1	EFO	encephalomyelitis	borna disease
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:0007178	"A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." []	563709	\N	\N	EFO	2	EFO	central nervous system infection	borna disease
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007178	"A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." []	1144897	\N	\N	EFO	3	EFO	nervous system disease	borna disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007178	"A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." []	2027454	\N	\N	EFO	4	EFO	disease	borna disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007178	"A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." []	3178886	\N	\N	EFO	5	EFO	disposition	borna disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007178	"A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." []	4388466	\N	\N	EFO	6	EFO	material property	borna disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007178	"A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." []	5408906	\N	\N	EFO	7	EFO	experimental factor	borna disease
EFO:0007179	\N	\N	"A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." []	EFO:0007179	"A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." []	68427	\N	\N	EFO	0	EFO	boutonneuse fever	boutonneuse fever
EFO:0000771	EFO:0007179	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007179	"A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." []	210520	\N	\N	EFO	1	EFO	bacterial disease	boutonneuse fever
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007179	"A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." []	563710	\N	\N	EFO	2	EFO	infectious disease	boutonneuse fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007179	"A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." []	1144898	\N	\N	EFO	3	EFO	disease	boutonneuse fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007179	"A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." []	2027455	\N	\N	EFO	4	EFO	disposition	boutonneuse fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007179	"A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." []	3178887	\N	\N	EFO	5	EFO	material property	boutonneuse fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007179	"A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." []	4388467	\N	\N	EFO	6	EFO	experimental factor	boutonneuse fever
EFO:0007180	\N	\N	"A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." []	EFO:0007180	"A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." []	68428	\N	\N	EFO	0	EFO	bovine respiratory disease complex	bovine respiratory disease complex
EFO:0000684	EFO:0007180	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007180	"A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." []	210521	\N	\N	EFO	1	EFO	respiratory system disease	bovine respiratory disease complex
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007180	"A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." []	563711	\N	\N	EFO	2	EFO	disease	bovine respiratory disease complex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007180	"A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." []	1144899	\N	\N	EFO	3	EFO	disposition	bovine respiratory disease complex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007180	"A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." []	2027456	\N	\N	EFO	4	EFO	material property	bovine respiratory disease complex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007180	"A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." []	3178888	\N	\N	EFO	5	EFO	experimental factor	bovine respiratory disease complex
EFO:0007181	\N	\N	"A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea." []	EFO:0007181	"A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea." []	68429	\N	\N	EFO	0	EFO	bovine virus diarrhea-mucosal disease	bovine virus diarrhea-mucosal disease
EFO:0005932	EFO:0007181	\N	"A disease that occurs in animals." []	EFO:0007181	"A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea." []	210522	\N	\N	EFO	1	EFO	animal disease	bovine virus diarrhea-mucosal disease
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007181	"A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea." []	563712	\N	\N	EFO	2	EFO	disease	bovine virus diarrhea-mucosal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007181	"A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea." []	1144900	\N	\N	EFO	3	EFO	disposition	bovine virus diarrhea-mucosal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007181	"A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea." []	2027457	\N	\N	EFO	4	EFO	material property	bovine virus diarrhea-mucosal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007181	"A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea." []	3178889	\N	\N	EFO	5	EFO	experimental factor	bovine virus diarrhea-mucosal disease
EFO:0007182	\N	\N	"An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." []	EFO:0007182	"An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." []	68430	\N	\N	EFO	0	EFO	Brill-Zinsser disease	Brill-Zinsser disease
EFO:0006789	EFO:0007182	\N	"A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." []	EFO:0007182	"An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." []	210523	\N	\N	EFO	1	EFO	typhoid fever	Brill-Zinsser disease
EFO:0000771	EFO:0006789	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007182	"An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." []	563713	\N	\N	EFO	2	EFO	bacterial disease	Brill-Zinsser disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007182	"An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." []	1144901	\N	\N	EFO	3	EFO	infectious disease	Brill-Zinsser disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007182	"An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." []	2027458	\N	\N	EFO	4	EFO	disease	Brill-Zinsser disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007182	"An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." []	3178890	\N	\N	EFO	5	EFO	disposition	Brill-Zinsser disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007182	"An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." []	4388468	\N	\N	EFO	6	EFO	material property	Brill-Zinsser disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007182	"An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." []	5408907	\N	\N	EFO	7	EFO	experimental factor	Brill-Zinsser disease
EFO:0007183	\N	\N	"A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." []	EFO:0007183	"A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." []	68431	\N	\N	EFO	0	EFO	bronchiolitis obliterans	bronchiolitis obliterans
EFO:0004244	EFO:0007183	\N	"A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." []	EFO:0007183	"A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." []	210524	\N	\N	EFO	1	EFO	interstitial lung disease	bronchiolitis obliterans
EFO:0003818	EFO:0004244	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007183	"A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." []	563714	\N	\N	EFO	2	EFO	lung disease	bronchiolitis obliterans
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007183	"A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." []	1144902	\N	\N	EFO	3	EFO	respiratory system disease	bronchiolitis obliterans
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007183	"A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." []	2027459	\N	\N	EFO	4	EFO	disease	bronchiolitis obliterans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007183	"A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." []	3178891	\N	\N	EFO	5	EFO	disposition	bronchiolitis obliterans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007183	"A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." []	4388469	\N	\N	EFO	6	EFO	material property	bronchiolitis obliterans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007183	"A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." []	5408908	\N	\N	EFO	7	EFO	experimental factor	bronchiolitis obliterans
EFO:0007184	\N	\N	"A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." []	EFO:0007184	"A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." []	68432	\N	\N	EFO	0	EFO	bronchopneumonia	bronchopneumonia
EFO:0003106	EFO:0007184	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:0007184	"A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." []	210525	\N	\N	EFO	1	EFO	pneumonia	bronchopneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007184	"A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." []	563715	\N	\N	EFO	2	EFO	lung disease	bronchopneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007184	"A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." []	563716	\N	\N	EFO	2	EFO	infectious disease	bronchopneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007184	"A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." []	1144903	\N	\N	EFO	3	EFO	respiratory system disease	bronchopneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007184	"A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." []	1144904	\N	\N	EFO	3	EFO	disease	bronchopneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007184	"A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." []	2027460	\N	\N	EFO	4	EFO	disease	bronchopneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007184	"A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." []	3178892	\N	\N	EFO	5	EFO	disposition	bronchopneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007184	"A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." []	4132710	\N	\N	EFO	6	EFO	material property	bronchopneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007184	"A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." []	5181030	\N	\N	EFO	7	EFO	experimental factor	bronchopneumonia
EFO:0007185	\N	\N	"A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." []	EFO:0007185	"A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." []	68433	\N	\N	EFO	0	EFO	brucellosis	brucellosis
EFO:0000771	EFO:0007185	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007185	"A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." []	210526	\N	\N	EFO	1	EFO	bacterial disease	brucellosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007185	"A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." []	563717	\N	\N	EFO	2	EFO	infectious disease	brucellosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007185	"A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." []	1144905	\N	\N	EFO	3	EFO	disease	brucellosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007185	"A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." []	2027462	\N	\N	EFO	4	EFO	disposition	brucellosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007185	"A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." []	3178894	\N	\N	EFO	5	EFO	material property	brucellosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007185	"A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." []	4388471	\N	\N	EFO	6	EFO	experimental factor	brucellosis
EFO:0007186	\N	\N	"A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing." []	EFO:0007186	"A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing." []	68434	\N	\N	EFO	0	EFO	bulbar polio	bulbar polio
EFO:0003782	EFO:0007186	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	EFO:0007186	"A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing." []	210527	\N	\N	EFO	1	EFO	motor neuron disease	bulbar polio
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:0007186	"A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing." []	563718	\N	\N	EFO	2	EFO	neurodegenerative disease	bulbar polio
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007186	"A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing." []	1144906	\N	\N	EFO	3	EFO	nervous system disease	bulbar polio
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007186	"A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing." []	2027463	\N	\N	EFO	4	EFO	disease	bulbar polio
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007186	"A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing." []	3178895	\N	\N	EFO	5	EFO	disposition	bulbar polio
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007186	"A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing." []	4388472	\N	\N	EFO	6	EFO	material property	bulbar polio
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007186	"A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing." []	5408909	\N	\N	EFO	7	EFO	experimental factor	bulbar polio
EFO:0007187	\N	\N	"An autoimmune disease of skin and connective tissue characterized by large blisters." []	EFO:0007187	"An autoimmune disease of skin and connective tissue characterized by large blisters." []	68435	\N	\N	EFO	0	EFO	bullous pemphigoid	bullous pemphigoid
EFO:1000673	EFO:0007187	\N	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	EFO:0007187	"An autoimmune disease of skin and connective tissue characterized by large blisters." []	210528	\N	\N	EFO	1	EFO	bullous skin disease	bullous pemphigoid
EFO:0000701	EFO:1000673	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007187	"An autoimmune disease of skin and connective tissue characterized by large blisters." []	563719	\N	\N	EFO	2	EFO	skin disease	bullous pemphigoid
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007187	"An autoimmune disease of skin and connective tissue characterized by large blisters." []	1144907	\N	\N	EFO	3	EFO	disease	bullous pemphigoid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007187	"An autoimmune disease of skin and connective tissue characterized by large blisters." []	2027464	\N	\N	EFO	4	EFO	disposition	bullous pemphigoid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007187	"An autoimmune disease of skin and connective tissue characterized by large blisters." []	3178896	\N	\N	EFO	5	EFO	material property	bullous pemphigoid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007187	"An autoimmune disease of skin and connective tissue characterized by large blisters." []	4388473	\N	\N	EFO	6	EFO	experimental factor	bullous pemphigoid
EFO:0007188	\N	\N	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors." []	EFO:0007188	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors." []	68436	\N	\N	EFO	0	EFO	Bunyaviridae infectious disease	Bunyaviridae infectious disease
EFO:0000763	EFO:0007188	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007188	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors." []	210529	\N	\N	EFO	1	EFO	viral disease	Bunyaviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007188	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors." []	563720	\N	\N	EFO	2	EFO	infectious disease	Bunyaviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007188	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors." []	1144908	\N	\N	EFO	3	EFO	disease	Bunyaviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007188	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors." []	2027465	\N	\N	EFO	4	EFO	disposition	Bunyaviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007188	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors." []	3178897	\N	\N	EFO	5	EFO	material property	Bunyaviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007188	"A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors." []	4388474	\N	\N	EFO	6	EFO	experimental factor	Bunyaviridae infectious disease
EFO:0007189	\N	\N	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses." []	EFO:0007189	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses." []	68437	\N	\N	EFO	0	EFO	Caliciviridae infectious disease	Caliciviridae infectious disease
EFO:0000763	EFO:0007189	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007189	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses." []	210530	\N	\N	EFO	1	EFO	viral disease	Caliciviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007189	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses." []	563721	\N	\N	EFO	2	EFO	infectious disease	Caliciviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007189	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses." []	1144909	\N	\N	EFO	3	EFO	disease	Caliciviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007189	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses." []	2027466	\N	\N	EFO	4	EFO	disposition	Caliciviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007189	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses." []	3178898	\N	\N	EFO	5	EFO	material property	Caliciviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007189	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses." []	4388475	\N	\N	EFO	6	EFO	experimental factor	Caliciviridae infectious disease
EFO:0007190	\N	\N	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." []	EFO:0007190	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." []	68438	\N	\N	EFO	0	EFO	campylobacteriosis	campylobacteriosis
EFO:0000405	EFO:0007190	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007190	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." []	210531	\N	\N	EFO	1	EFO	digestive system disease	campylobacteriosis
EFO:0000771	EFO:0007190	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007190	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." []	210532	\N	\N	EFO	1	EFO	bacterial disease	campylobacteriosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007190	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." []	563722	\N	\N	EFO	2	EFO	disease	campylobacteriosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007190	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." []	563723	\N	\N	EFO	2	EFO	infectious disease	campylobacteriosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007190	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." []	2027468	\N	\N	EFO	4	EFO	disposition	campylobacteriosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007190	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." []	1144911	\N	\N	EFO	3	EFO	disease	campylobacteriosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007190	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." []	2999852	\N	\N	EFO	5	EFO	material property	campylobacteriosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007190	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." []	4132711	\N	\N	EFO	6	EFO	experimental factor	campylobacteriosis
EFO:0007191	\N	\N	"A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." []	EFO:0007191	"A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." []	68439	\N	\N	EFO	0	EFO	cannabis dependence	cannabis dependence
EFO:0003890	EFO:0007191	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0007191	"A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." []	210533	\N	\N	EFO	1	EFO	drug dependence	cannabis dependence
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0007191	"A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." []	563724	\N	\N	EFO	2	EFO	mental or behavioural disorder	cannabis dependence
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0007191	"A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." []	1144912	\N	\N	EFO	3	EFO	brain disease	cannabis dependence
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007191	"A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." []	2027469	\N	\N	EFO	4	EFO	nervous system disease	cannabis dependence
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007191	"A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." []	3178900	\N	\N	EFO	5	EFO	disease	cannabis dependence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007191	"A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." []	4388476	\N	\N	EFO	6	EFO	disposition	cannabis dependence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007191	"A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." []	5408910	\N	\N	EFO	7	EFO	material property	cannabis dependence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007191	"A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." []	6147526	\N	\N	EFO	8	EFO	experimental factor	cannabis dependence
EFO:0007192	\N	\N	"A pneumoconiosis that results_in humans that also have rheumatoid arthritis." []	EFO:0007192	"A pneumoconiosis that results_in humans that also have rheumatoid arthritis." []	68440	\N	\N	EFO	0	EFO	Caplan's syndrome	Caplan's syndrome
Orphanet:182098	EFO:0007192	\N	"" []	EFO:0007192	"A pneumoconiosis that results_in humans that also have rheumatoid arthritis." []	210534	\N	\N	EFO	1	EFO	pneumoconiosis	Caplan's syndrome
EFO:0000771	Orphanet:182098	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007192	"A pneumoconiosis that results_in humans that also have rheumatoid arthritis." []	563725	\N	\N	EFO	2	EFO	bacterial disease	Caplan's syndrome
EFO:0003818	Orphanet:182098	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007192	"A pneumoconiosis that results_in humans that also have rheumatoid arthritis." []	563726	\N	\N	EFO	2	EFO	lung disease	Caplan's syndrome
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007192	"A pneumoconiosis that results_in humans that also have rheumatoid arthritis." []	1144913	\N	\N	EFO	3	EFO	infectious disease	Caplan's syndrome
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007192	"A pneumoconiosis that results_in humans that also have rheumatoid arthritis." []	1144914	\N	\N	EFO	3	EFO	respiratory system disease	Caplan's syndrome
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007192	"A pneumoconiosis that results_in humans that also have rheumatoid arthritis." []	2027470	\N	\N	EFO	4	EFO	disease	Caplan's syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007192	"A pneumoconiosis that results_in humans that also have rheumatoid arthritis." []	2027471	\N	\N	EFO	4	EFO	disease	Caplan's syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007192	"A pneumoconiosis that results_in humans that also have rheumatoid arthritis." []	3178901	\N	\N	EFO	5	EFO	disposition	Caplan's syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007192	"A pneumoconiosis that results_in humans that also have rheumatoid arthritis." []	4388477	\N	\N	EFO	6	EFO	material property	Caplan's syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007192	"A pneumoconiosis that results_in humans that also have rheumatoid arthritis." []	5408911	\N	\N	EFO	7	EFO	experimental factor	Caplan's syndrome
EFO:0007193	\N	\N	"An amino acid metabolic disorder that involves accumulation of ammonia in the blood." []	EFO:0007193	"An amino acid metabolic disorder that involves accumulation of ammonia in the blood." []	68441	\N	\N	EFO	0	EFO	carbamoyl phosphate synthetase I deficiency disease	carbamoyl phosphate synthetase I deficiency disease
EFO:0000589	EFO:0007193	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0007193	"An amino acid metabolic disorder that involves accumulation of ammonia in the blood." []	210535	\N	\N	EFO	1	EFO	metabolic disease	carbamoyl phosphate synthetase I deficiency disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007193	"An amino acid metabolic disorder that involves accumulation of ammonia in the blood." []	563727	\N	\N	EFO	2	EFO	disease	carbamoyl phosphate synthetase I deficiency disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007193	"An amino acid metabolic disorder that involves accumulation of ammonia in the blood." []	1144915	\N	\N	EFO	3	EFO	disposition	carbamoyl phosphate synthetase I deficiency disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007193	"An amino acid metabolic disorder that involves accumulation of ammonia in the blood." []	2027472	\N	\N	EFO	4	EFO	material property	carbamoyl phosphate synthetase I deficiency disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007193	"An amino acid metabolic disorder that involves accumulation of ammonia in the blood." []	3178902	\N	\N	EFO	5	EFO	experimental factor	carbamoyl phosphate synthetase I deficiency disease
EFO:0007194	\N	\N	"A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus." []	EFO:0007194	"A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus." []	68442	\N	\N	EFO	0	EFO	Cardiovirus infectious disease	Cardiovirus infectious disease
EFO:0000763	EFO:0007194	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007194	"A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus." []	210536	\N	\N	EFO	1	EFO	viral disease	Cardiovirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007194	"A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus." []	563728	\N	\N	EFO	2	EFO	infectious disease	Cardiovirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007194	"A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus." []	1144916	\N	\N	EFO	3	EFO	disease	Cardiovirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007194	"A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus." []	2027473	\N	\N	EFO	4	EFO	disposition	Cardiovirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007194	"A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus." []	3178903	\N	\N	EFO	5	EFO	material property	Cardiovirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007194	"A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus." []	4388478	\N	\N	EFO	6	EFO	experimental factor	Cardiovirus infectious disease
EFO:0007195	\N	\N	"A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." []	EFO:0007195	"A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." []	68443	\N	\N	EFO	0	EFO	cat-scratch disease	cat-scratch disease
EFO:0000771	EFO:0007195	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007195	"A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." []	210537	\N	\N	EFO	1	EFO	bacterial disease	cat-scratch disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007195	"A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." []	563729	\N	\N	EFO	2	EFO	infectious disease	cat-scratch disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007195	"A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." []	1144917	\N	\N	EFO	3	EFO	disease	cat-scratch disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007195	"A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." []	2027474	\N	\N	EFO	4	EFO	disposition	cat-scratch disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007195	"A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." []	3178904	\N	\N	EFO	5	EFO	material property	cat-scratch disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007195	"A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." []	4388479	\N	\N	EFO	6	EFO	experimental factor	cat-scratch disease
EFO:0007196	\N	\N	"A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord." []	EFO:0007196	"A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord." []	68444	\N	\N	EFO	0	EFO	Cauda equina syndrome	Cauda equina syndrome
EFO:0000618	EFO:0007196	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007196	"A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord." []	210538	\N	\N	EFO	1	EFO	nervous system disease	Cauda equina syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007196	"A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord." []	563730	\N	\N	EFO	2	EFO	disease	Cauda equina syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007196	"A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord." []	1144918	\N	\N	EFO	3	EFO	disposition	Cauda equina syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007196	"A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord." []	2027475	\N	\N	EFO	4	EFO	material property	Cauda equina syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007196	"A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord." []	3178905	\N	\N	EFO	5	EFO	experimental factor	Cauda equina syndrome
EFO:0007197	\N	\N	"An intestinal benign neoplasm that is located_in the cecum." []	EFO:0007197	"An intestinal benign neoplasm that is located_in the cecum." []	68445	\N	\N	EFO	0	EFO	cecal benign neoplasm	cecal benign neoplasm
EFO:0002422	EFO:0007197	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:0007197	"An intestinal benign neoplasm that is located_in the cecum." []	210539	\N	\N	EFO	1	EFO	benign neoplasm	cecal benign neoplasm
EFO:0004288	EFO:0007197	\N	"Tumors or cancer of the COLON." []	EFO:0007197	"An intestinal benign neoplasm that is located_in the cecum." []	210540	\N	\N	EFO	1	EFO	colonic neoplasm	cecal benign neoplasm
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007197	"An intestinal benign neoplasm that is located_in the cecum." []	563731	\N	\N	EFO	2	EFO	neoplasm	cecal benign neoplasm
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007197	"An intestinal benign neoplasm that is located_in the cecum." []	563732	\N	\N	EFO	2	EFO	digestive system disease	cecal benign neoplasm
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007197	"An intestinal benign neoplasm that is located_in the cecum." []	563733	\N	\N	EFO	2	EFO	neoplasm	cecal benign neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007197	"An intestinal benign neoplasm that is located_in the cecum." []	1144919	\N	\N	EFO	3	EFO	disease	cecal benign neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007197	"An intestinal benign neoplasm that is located_in the cecum." []	1144920	\N	\N	EFO	3	EFO	disease	cecal benign neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007197	"An intestinal benign neoplasm that is located_in the cecum." []	2027476	\N	\N	EFO	4	EFO	disposition	cecal benign neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007197	"An intestinal benign neoplasm that is located_in the cecum." []	3178906	\N	\N	EFO	5	EFO	material property	cecal benign neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007197	"An intestinal benign neoplasm that is located_in the cecum." []	4388480	\N	\N	EFO	6	EFO	experimental factor	cecal benign neoplasm
EFO:0007198	\N	\N	"A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	EFO:0007198	"A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	68446	\N	\N	EFO	0	EFO	central nervous system AIDS arteritis	central nervous system AIDS arteritis
EFO:0000764	EFO:0007198	\N	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	EFO:0007198	"A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	210541	\N	\N	EFO	1	EFO	HIV infection	central nervous system AIDS arteritis
EFO:0000763	EFO:0000764	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007198	"A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	563734	\N	\N	EFO	2	EFO	viral disease	central nervous system AIDS arteritis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007198	"A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	1144921	\N	\N	EFO	3	EFO	infectious disease	central nervous system AIDS arteritis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007198	"A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	2027477	\N	\N	EFO	4	EFO	disease	central nervous system AIDS arteritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007198	"A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	3178907	\N	\N	EFO	5	EFO	disposition	central nervous system AIDS arteritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007198	"A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	4388481	\N	\N	EFO	6	EFO	material property	central nervous system AIDS arteritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007198	"A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	5408912	\N	\N	EFO	7	EFO	experimental factor	central nervous system AIDS arteritis
EFO:0007199	\N	\N	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	EFO:0007199	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	68447	\N	\N	EFO	0	EFO	central nervous system tuberculosis	central nervous system tuberculosis
EFO:0000618	EFO:0007199	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007199	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	210542	\N	\N	EFO	1	EFO	nervous system disease	central nervous system tuberculosis
Orphanet:3389	EFO:0007199	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007199	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	210543	\N	\N	EFO	1	EFO	Tuberculosis	central nervous system tuberculosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007199	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	563735	\N	\N	EFO	2	EFO	disease	central nervous system tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007199	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	563736	\N	\N	EFO	2	EFO	respiratory system disease	central nervous system tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007199	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	563737	\N	\N	EFO	2	EFO	bacterial disease	central nervous system tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007199	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	3178909	\N	\N	EFO	5	EFO	disposition	central nervous system tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007199	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	1144923	\N	\N	EFO	3	EFO	disease	central nervous system tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007199	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	1144924	\N	\N	EFO	3	EFO	infectious disease	central nervous system tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007199	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	4066724	\N	\N	EFO	6	EFO	material property	central nervous system tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007199	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	2027480	\N	\N	EFO	4	EFO	disease	central nervous system tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007199	"An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." []	5059366	\N	\N	EFO	7	EFO	experimental factor	central nervous system tuberculosis
EFO:0007200	\N	\N	"A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." []	EFO:0007200	"A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." []	68448	\N	\N	EFO	0	EFO	cerebral toxoplasmosis	cerebral toxoplasmosis
EFO:0000540	EFO:0007200	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007200	"A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." []	210544	\N	\N	EFO	1	EFO	immune system disease	cerebral toxoplasmosis
EFO:0005774	EFO:0007200	\N	"A disease affecting the brain or part of the brain." []	EFO:0007200	"A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." []	210545	\N	\N	EFO	1	EFO	brain disease	cerebral toxoplasmosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007200	"A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." []	563738	\N	\N	EFO	2	EFO	disease	cerebral toxoplasmosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007200	"A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." []	563739	\N	\N	EFO	2	EFO	nervous system disease	cerebral toxoplasmosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007200	"A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." []	2027482	\N	\N	EFO	4	EFO	disposition	cerebral toxoplasmosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007200	"A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." []	1144926	\N	\N	EFO	3	EFO	disease	cerebral toxoplasmosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007200	"A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." []	2999854	\N	\N	EFO	5	EFO	material property	cerebral toxoplasmosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007200	"A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." []	4132713	\N	\N	EFO	6	EFO	experimental factor	cerebral toxoplasmosis
EFO:0007201	\N	\N	"A cerebrum cancer that is located_in the cerebral ventricles." []	EFO:0007201	"A cerebrum cancer that is located_in the cerebral ventricles." []	68449	\N	\N	EFO	0	EFO	cerebral ventricle cancer	cerebral ventricle cancer
EFO:0003833	EFO:0007201	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0007201	"A cerebrum cancer that is located_in the cerebral ventricles." []	210546	\N	\N	EFO	1	EFO	brain neoplasm	cerebral ventricle cancer
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007201	"A cerebrum cancer that is located_in the cerebral ventricles." []	563740	\N	\N	EFO	2	EFO	neoplasm	cerebral ventricle cancer
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0007201	"A cerebrum cancer that is located_in the cerebral ventricles." []	563741	\N	\N	EFO	2	EFO	brain disease	cerebral ventricle cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007201	"A cerebrum cancer that is located_in the cerebral ventricles." []	1144927	\N	\N	EFO	3	EFO	disease	cerebral ventricle cancer
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007201	"A cerebrum cancer that is located_in the cerebral ventricles." []	1144928	\N	\N	EFO	3	EFO	nervous system disease	cerebral ventricle cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007201	"A cerebrum cancer that is located_in the cerebral ventricles." []	3178912	\N	\N	EFO	5	EFO	disposition	cerebral ventricle cancer
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007201	"A cerebrum cancer that is located_in the cerebral ventricles." []	2027484	\N	\N	EFO	4	EFO	disease	cerebral ventricle cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007201	"A cerebrum cancer that is located_in the cerebral ventricles." []	4132714	\N	\N	EFO	6	EFO	material property	cerebral ventricle cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007201	"A cerebrum cancer that is located_in the cerebral ventricles." []	5181031	\N	\N	EFO	7	EFO	experimental factor	cerebral ventricle cancer
EFO:0007202	\N	\N	"A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term." []	EFO:0007202	"A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term." []	68450	\N	\N	EFO	0	EFO	cervical incompetence	cervical incompetence
EFO:0000512	EFO:0007202	\N	"any diease of the reproductive system" []	EFO:0007202	"A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term." []	210547	\N	\N	EFO	1	EFO	reproductive system disease	cervical incompetence
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007202	"A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term." []	563742	\N	\N	EFO	2	EFO	disease	cervical incompetence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007202	"A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term." []	1144929	\N	\N	EFO	3	EFO	disposition	cervical incompetence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007202	"A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term." []	2027485	\N	\N	EFO	4	EFO	material property	cervical incompetence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007202	"A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term." []	3178913	\N	\N	EFO	5	EFO	experimental factor	cervical incompetence
EFO:0007203	\N	\N	"An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene." []	EFO:0007203	"An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene." []	68451	\N	\N	EFO	0	EFO	cervicofacial actinomycosis	cervicofacial actinomycosis
EFO:0000524	EFO:0007203	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007203	"An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene." []	210548	\N	\N	EFO	1	EFO	head disease	cervicofacial actinomycosis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007203	"An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene." []	563743	\N	\N	EFO	2	EFO	disease	cervicofacial actinomycosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007203	"An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene." []	1144930	\N	\N	EFO	3	EFO	disposition	cervicofacial actinomycosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007203	"An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene." []	2027486	\N	\N	EFO	4	EFO	material property	cervicofacial actinomycosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007203	"An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene." []	3178914	\N	\N	EFO	5	EFO	experimental factor	cervicofacial actinomycosis
EFO:0007204	\N	\N	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." []	EFO:0007204	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." []	68452	\N	\N	EFO	0	EFO	chickenpox	chickenpox
EFO:0000701	EFO:0007204	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007204	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." []	210549	\N	\N	EFO	1	EFO	skin disease	chickenpox
EFO:0000763	EFO:0007204	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007204	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." []	210550	\N	\N	EFO	1	EFO	viral disease	chickenpox
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007204	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." []	563744	\N	\N	EFO	2	EFO	disease	chickenpox
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007204	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." []	563745	\N	\N	EFO	2	EFO	infectious disease	chickenpox
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007204	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." []	2027488	\N	\N	EFO	4	EFO	disposition	chickenpox
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007204	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." []	1144932	\N	\N	EFO	3	EFO	disease	chickenpox
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007204	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." []	2999855	\N	\N	EFO	5	EFO	material property	chickenpox
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007204	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." []	4132715	\N	\N	EFO	6	EFO	experimental factor	chickenpox
EFO:0007205	\N	\N	"A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis." []	EFO:0007205	"A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis." []	68453	\N	\N	EFO	0	EFO	Chlamydia trachomatis infectious disease	Chlamydia trachomatis infectious disease
EFO:0000771	EFO:0007205	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007205	"A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis." []	210551	\N	\N	EFO	1	EFO	bacterial disease	Chlamydia trachomatis infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007205	"A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis." []	563746	\N	\N	EFO	2	EFO	infectious disease	Chlamydia trachomatis infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007205	"A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis." []	1144933	\N	\N	EFO	3	EFO	disease	Chlamydia trachomatis infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007205	"A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis." []	2027489	\N	\N	EFO	4	EFO	disposition	Chlamydia trachomatis infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007205	"A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis." []	3178916	\N	\N	EFO	5	EFO	material property	Chlamydia trachomatis infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007205	"A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis." []	4388483	\N	\N	EFO	6	EFO	experimental factor	Chlamydia trachomatis infectious disease
EFO:0007206	\N	\N	"A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." []	EFO:0007206	"A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." []	68454	\N	\N	EFO	0	EFO	choroid plexus cancer	choroid plexus cancer
EFO:0003833	EFO:0007206	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:0007206	"A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." []	210552	\N	\N	EFO	1	EFO	brain neoplasm	choroid plexus cancer
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007206	"A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." []	563747	\N	\N	EFO	2	EFO	neoplasm	choroid plexus cancer
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:0007206	"A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." []	563748	\N	\N	EFO	2	EFO	brain disease	choroid plexus cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007206	"A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." []	1144934	\N	\N	EFO	3	EFO	disease	choroid plexus cancer
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007206	"A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." []	1144935	\N	\N	EFO	3	EFO	nervous system disease	choroid plexus cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007206	"A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." []	3178918	\N	\N	EFO	5	EFO	disposition	choroid plexus cancer
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007206	"A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." []	2027491	\N	\N	EFO	4	EFO	disease	choroid plexus cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007206	"A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." []	4132716	\N	\N	EFO	6	EFO	material property	choroid plexus cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007206	"A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." []	5181032	\N	\N	EFO	7	EFO	experimental factor	choroid plexus cancer
EFO:0007207	\N	\N	"A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." []	EFO:0007207	"A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." []	68455	\N	\N	EFO	0	EFO	chromoblastomycosis	chromoblastomycosis
EFO:0005741	EFO:0007207	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007207	"A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." []	210553	\N	\N	EFO	1	EFO	infectious disease	chromoblastomycosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007207	"A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." []	563749	\N	\N	EFO	2	EFO	disease	chromoblastomycosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007207	"A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." []	1144936	\N	\N	EFO	3	EFO	disposition	chromoblastomycosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007207	"A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." []	2027492	\N	\N	EFO	4	EFO	material property	chromoblastomycosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007207	"A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." []	3178919	\N	\N	EFO	5	EFO	experimental factor	chromoblastomycosis
EFO:0007208	\N	\N	"A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." []	EFO:0007208	"A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." []	68456	\N	\N	EFO	0	EFO	Churg-Strauss syndrome	Churg-Strauss syndrome
EFO:0006803	EFO:0007208	\N	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	EFO:0007208	"A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." []	210554	\N	\N	EFO	1	EFO	vasculitis	Churg-Strauss syndrome
EFO:0004264	EFO:0006803	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0007208	"A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." []	563750	\N	\N	EFO	2	EFO	vascular disease	Churg-Strauss syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007208	"A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." []	1144937	\N	\N	EFO	3	EFO	cardiovascular disease	Churg-Strauss syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007208	"A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." []	2027493	\N	\N	EFO	4	EFO	disease	Churg-Strauss syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007208	"A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." []	3178920	\N	\N	EFO	5	EFO	disposition	Churg-Strauss syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007208	"A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." []	4388485	\N	\N	EFO	6	EFO	material property	Churg-Strauss syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007208	"A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." []	5408913	\N	\N	EFO	7	EFO	experimental factor	Churg-Strauss syndrome
EFO:0007209	\N	\N	"An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia." []	EFO:0007209	"An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia." []	68457	\N	\N	EFO	0	EFO	Ciliophora infectious disease	Ciliophora infectious disease
EFO:0005741	EFO:0007209	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007209	"An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia." []	210555	\N	\N	EFO	1	EFO	infectious disease	Ciliophora infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007209	"An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia." []	563751	\N	\N	EFO	2	EFO	disease	Ciliophora infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007209	"An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia." []	1144938	\N	\N	EFO	3	EFO	disposition	Ciliophora infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007209	"An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia." []	2027494	\N	\N	EFO	4	EFO	material property	Ciliophora infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007209	"An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia." []	3178921	\N	\N	EFO	5	EFO	experimental factor	Ciliophora infectious disease
EFO:0007210	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	EFO:0007210	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	68458	\N	\N	EFO	0	EFO	clonorchiasis	clonorchiasis
EFO:0001067	EFO:0007210	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007210	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	210556	\N	\N	EFO	1	EFO	parasitic infection	clonorchiasis
EFO:0001421	EFO:0007210	\N	"Pathological processes of the LIVER." []	EFO:0007210	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	210557	\N	\N	EFO	1	EFO	liver disease	clonorchiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007210	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	563752	\N	\N	EFO	2	EFO	infectious disease	clonorchiasis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007210	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	563753	\N	\N	EFO	2	EFO	digestive system disease	clonorchiasis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0007210	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	563754	\N	\N	EFO	2	EFO	endocrine system disease	clonorchiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007210	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	1144939	\N	\N	EFO	3	EFO	disease	clonorchiasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007210	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	1144940	\N	\N	EFO	3	EFO	disease	clonorchiasis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007210	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	1144941	\N	\N	EFO	3	EFO	disease	clonorchiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007210	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	2027495	\N	\N	EFO	4	EFO	disposition	clonorchiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007210	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	3178922	\N	\N	EFO	5	EFO	material property	clonorchiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007210	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." []	4388486	\N	\N	EFO	6	EFO	experimental factor	clonorchiasis
EFO:0007211	\N	\N	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules." []	EFO:0007211	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules." []	68459	\N	\N	EFO	0	EFO	coccidioidomycosis	coccidioidomycosis
EFO:0005741	EFO:0007211	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007211	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules." []	210558	\N	\N	EFO	1	EFO	infectious disease	coccidioidomycosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007211	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules." []	563755	\N	\N	EFO	2	EFO	disease	coccidioidomycosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007211	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules." []	1144942	\N	\N	EFO	3	EFO	disposition	coccidioidomycosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007211	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules." []	2027496	\N	\N	EFO	4	EFO	material property	coccidioidomycosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007211	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules." []	3178923	\N	\N	EFO	5	EFO	experimental factor	coccidioidomycosis
EFO:0007212	\N	\N	"A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." []	EFO:0007212	"A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." []	68460	\N	\N	EFO	0	EFO	coccidiosis	coccidiosis
EFO:0000405	EFO:0007212	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007212	"A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." []	210559	\N	\N	EFO	1	EFO	digestive system disease	coccidiosis
EFO:0001067	EFO:0007212	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007212	"A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." []	210560	\N	\N	EFO	1	EFO	parasitic infection	coccidiosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007212	"A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." []	563756	\N	\N	EFO	2	EFO	disease	coccidiosis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007212	"A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." []	563757	\N	\N	EFO	2	EFO	infectious disease	coccidiosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007212	"A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." []	2027498	\N	\N	EFO	4	EFO	disposition	coccidiosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007212	"A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." []	1144944	\N	\N	EFO	3	EFO	disease	coccidiosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007212	"A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." []	2999856	\N	\N	EFO	5	EFO	material property	coccidiosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007212	"A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." []	4132717	\N	\N	EFO	6	EFO	experimental factor	coccidiosis
EFO:0007213	\N	\N	"A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." []	EFO:0007213	"A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." []	68461	\N	\N	EFO	0	EFO	Colorado tick fever	Colorado tick fever
EFO:0000763	EFO:0007213	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007213	"A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." []	210561	\N	\N	EFO	1	EFO	viral disease	Colorado tick fever
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007213	"A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." []	563758	\N	\N	EFO	2	EFO	infectious disease	Colorado tick fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007213	"A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." []	1144945	\N	\N	EFO	3	EFO	disease	Colorado tick fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007213	"A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." []	2027499	\N	\N	EFO	4	EFO	disposition	Colorado tick fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007213	"A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." []	3178925	\N	\N	EFO	5	EFO	material property	Colorado tick fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007213	"A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." []	4388487	\N	\N	EFO	6	EFO	experimental factor	Colorado tick fever
EFO:0007214	\N	\N	"An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." []	EFO:0007214	"An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." []	68462	\N	\N	EFO	0	EFO	common cold	common cold
EFO:0000684	EFO:0007214	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007214	"An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." []	210562	\N	\N	EFO	1	EFO	respiratory system disease	common cold
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007214	"An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." []	563759	\N	\N	EFO	2	EFO	disease	common cold
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007214	"An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." []	1144946	\N	\N	EFO	3	EFO	disposition	common cold
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007214	"An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." []	2027500	\N	\N	EFO	4	EFO	material property	common cold
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007214	"An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." []	3178926	\N	\N	EFO	5	EFO	experimental factor	common cold
EFO:0007215	\N	\N	"A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." []	EFO:0007215	"A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." []	68463	\N	\N	EFO	0	EFO	composite lymphoma	composite lymphoma
EFO:0000574	EFO:0007215	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:0007215	"A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." []	210563	\N	\N	EFO	1	EFO	lymphoma	composite lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0007215	"A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." []	563760	\N	\N	EFO	2	EFO	lymphoid neoplasm	composite lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007215	"A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." []	1144947	\N	\N	EFO	3	EFO	cancer	composite lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0007215	"A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." []	1144948	\N	\N	EFO	3	EFO	hematological system disease	composite lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007215	"A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." []	2027501	\N	\N	EFO	4	EFO	neoplasm	composite lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007215	"A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." []	2027502	\N	\N	EFO	4	EFO	disease	composite lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007215	"A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." []	3178927	\N	\N	EFO	5	EFO	disease	composite lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007215	"A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." []	4388488	\N	\N	EFO	6	EFO	disposition	composite lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007215	"A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." []	5181033	\N	\N	EFO	7	EFO	material property	composite lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007215	"A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." []	5996627	\N	\N	EFO	8	EFO	experimental factor	composite lymphoma
EFO:0007216	\N	\N	"A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." []	EFO:0007216	"A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." []	68464	\N	\N	EFO	0	EFO	congenital diaphragmatic hernia	congenital diaphragmatic hernia
EFO:0007233	EFO:0007216	\N	"a disease in diaphragm" []	EFO:0007216	"A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." []	210564	\N	\N	EFO	1	EFO	diaphragm disease	congenital diaphragmatic hernia
EFO:0000684	EFO:0007233	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007216	"A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." []	563761	\N	\N	EFO	2	EFO	respiratory system disease	congenital diaphragmatic hernia
EFO:0002970	EFO:0007233	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:0007216	"A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." []	563762	\N	\N	EFO	2	EFO	muscular disease	congenital diaphragmatic hernia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007216	"A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." []	1144949	\N	\N	EFO	3	EFO	disease	congenital diaphragmatic hernia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:0007216	"A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." []	1144950	\N	\N	EFO	3	EFO	skeletal system disease	congenital diaphragmatic hernia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007216	"A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." []	3178930	\N	\N	EFO	5	EFO	disposition	congenital diaphragmatic hernia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007216	"A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." []	2027504	\N	\N	EFO	4	EFO	disease	congenital diaphragmatic hernia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007216	"A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." []	4132718	\N	\N	EFO	6	EFO	material property	congenital diaphragmatic hernia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007216	"A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." []	5181034	\N	\N	EFO	7	EFO	experimental factor	congenital diaphragmatic hernia
EFO:0007217	\N	\N	"A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." []	EFO:0007217	"A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." []	68465	\N	\N	EFO	0	EFO	congenital nystagmus	congenital nystagmus
EFO:0000508	EFO:0007217	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0007217	"A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." []	210565	\N	\N	EFO	1	EFO	genetic disorder	congenital nystagmus
EFO:0003966	EFO:0007217	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0007217	"A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." []	210566	\N	\N	EFO	1	EFO	eye disease	congenital nystagmus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007217	"A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." []	563763	\N	\N	EFO	2	EFO	disease	congenital nystagmus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007217	"A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." []	563764	\N	\N	EFO	2	EFO	disease	congenital nystagmus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007217	"A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." []	1144951	\N	\N	EFO	3	EFO	disposition	congenital nystagmus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007217	"A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." []	2027505	\N	\N	EFO	4	EFO	material property	congenital nystagmus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007217	"A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." []	3178931	\N	\N	EFO	5	EFO	experimental factor	congenital nystagmus
EFO:0007218	\N	\N	"A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester." []	EFO:0007218	"A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester." []	68466	\N	\N	EFO	0	EFO	congenital rubella	congenital rubella
EFO:0000763	EFO:0007218	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007218	"A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester." []	210567	\N	\N	EFO	1	EFO	viral disease	congenital rubella
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007218	"A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester." []	563765	\N	\N	EFO	2	EFO	infectious disease	congenital rubella
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007218	"A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester." []	1144952	\N	\N	EFO	3	EFO	disease	congenital rubella
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007218	"A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester." []	2027506	\N	\N	EFO	4	EFO	disposition	congenital rubella
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007218	"A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester." []	3178932	\N	\N	EFO	5	EFO	material property	congenital rubella
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007218	"A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester." []	4388491	\N	\N	EFO	6	EFO	experimental factor	congenital rubella
EFO:0007219	\N	\N	"A syphilis that results_in a multisystem infection in the fetus via the placenta." []	EFO:0007219	"A syphilis that results_in a multisystem infection in the fetus via the placenta." []	68467	\N	\N	EFO	0	EFO	congenital syphilis	congenital syphilis
EFO:0007504	EFO:0007219	\N	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	EFO:0007219	"A syphilis that results_in a multisystem infection in the fetus via the placenta." []	210568	\N	\N	EFO	1	EFO	syphilis	congenital syphilis
EFO:0000771	EFO:0007504	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007219	"A syphilis that results_in a multisystem infection in the fetus via the placenta." []	563766	\N	\N	EFO	2	EFO	bacterial disease	congenital syphilis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007219	"A syphilis that results_in a multisystem infection in the fetus via the placenta." []	1144953	\N	\N	EFO	3	EFO	infectious disease	congenital syphilis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007219	"A syphilis that results_in a multisystem infection in the fetus via the placenta." []	2027507	\N	\N	EFO	4	EFO	disease	congenital syphilis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007219	"A syphilis that results_in a multisystem infection in the fetus via the placenta." []	3178933	\N	\N	EFO	5	EFO	disposition	congenital syphilis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007219	"A syphilis that results_in a multisystem infection in the fetus via the placenta." []	4388492	\N	\N	EFO	6	EFO	material property	congenital syphilis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007219	"A syphilis that results_in a multisystem infection in the fetus via the placenta." []	5408915	\N	\N	EFO	7	EFO	experimental factor	congenital syphilis
EFO:0007220	\N	\N	"A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur." []	EFO:0007220	"A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur." []	68468	\N	\N	EFO	0	EFO	congenital toxoplasmosis	congenital toxoplasmosis
EFO:0000540	EFO:0007220	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007220	"A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur." []	210569	\N	\N	EFO	1	EFO	immune system disease	congenital toxoplasmosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007220	"A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur." []	563767	\N	\N	EFO	2	EFO	disease	congenital toxoplasmosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007220	"A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur." []	1144954	\N	\N	EFO	3	EFO	disposition	congenital toxoplasmosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007220	"A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur." []	2027508	\N	\N	EFO	4	EFO	material property	congenital toxoplasmosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007220	"A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur." []	3178934	\N	\N	EFO	5	EFO	experimental factor	congenital toxoplasmosis
EFO:0007221	\N	\N	"A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." []	EFO:0007221	"A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." []	68469	\N	\N	EFO	0	EFO	contagious pleuropneumonia	contagious pleuropneumonia
EFO:0003106	EFO:0007221	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:0007221	"A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." []	210570	\N	\N	EFO	1	EFO	pneumonia	contagious pleuropneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007221	"A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." []	563768	\N	\N	EFO	2	EFO	lung disease	contagious pleuropneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007221	"A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." []	563769	\N	\N	EFO	2	EFO	infectious disease	contagious pleuropneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007221	"A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." []	1144955	\N	\N	EFO	3	EFO	respiratory system disease	contagious pleuropneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007221	"A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." []	1144956	\N	\N	EFO	3	EFO	disease	contagious pleuropneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007221	"A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." []	2027509	\N	\N	EFO	4	EFO	disease	contagious pleuropneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007221	"A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." []	3178935	\N	\N	EFO	5	EFO	disposition	contagious pleuropneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007221	"A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." []	4132719	\N	\N	EFO	6	EFO	material property	contagious pleuropneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007221	"A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." []	5181035	\N	\N	EFO	7	EFO	experimental factor	contagious pleuropneumonia
EFO:0007222	\N	\N	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." []	EFO:0007222	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." []	68470	\N	\N	EFO	0	EFO	contagious pustular dermatitis	contagious pustular dermatitis
EFO:0000701	EFO:0007222	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007222	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." []	210571	\N	\N	EFO	1	EFO	skin disease	contagious pustular dermatitis
EFO:0000763	EFO:0007222	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007222	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." []	210572	\N	\N	EFO	1	EFO	viral disease	contagious pustular dermatitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007222	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." []	563770	\N	\N	EFO	2	EFO	disease	contagious pustular dermatitis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007222	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." []	563771	\N	\N	EFO	2	EFO	infectious disease	contagious pustular dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007222	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." []	2027512	\N	\N	EFO	4	EFO	disposition	contagious pustular dermatitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007222	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." []	1144958	\N	\N	EFO	3	EFO	disease	contagious pustular dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007222	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." []	2999857	\N	\N	EFO	5	EFO	material property	contagious pustular dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007222	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." []	4132720	\N	\N	EFO	6	EFO	experimental factor	contagious pustular dermatitis
EFO:0007223	\N	\N	"A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	EFO:0007223	"A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	68471	\N	\N	EFO	0	EFO	Coronaviridae infectious disease	Coronaviridae infectious disease
EFO:0000763	EFO:0007223	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007223	"A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	210573	\N	\N	EFO	1	EFO	viral disease	Coronaviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007223	"A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	563772	\N	\N	EFO	2	EFO	infectious disease	Coronaviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007223	"A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	1144959	\N	\N	EFO	3	EFO	disease	Coronaviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007223	"A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	2027513	\N	\N	EFO	4	EFO	disposition	Coronaviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007223	"A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	3178938	\N	\N	EFO	5	EFO	material property	Coronaviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007223	"A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	4388494	\N	\N	EFO	6	EFO	experimental factor	Coronaviridae infectious disease
EFO:0007224	\N	\N	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	EFO:0007224	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	68472	\N	\N	EFO	0	EFO	coronavirus infectious disease	coronavirus infectious disease
EFO:0000763	EFO:0007224	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007224	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	210574	\N	\N	EFO	1	EFO	viral disease	coronavirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007224	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	563773	\N	\N	EFO	2	EFO	infectious disease	coronavirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007224	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	1144960	\N	\N	EFO	3	EFO	disease	coronavirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007224	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	2027514	\N	\N	EFO	4	EFO	disposition	coronavirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007224	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	3178939	\N	\N	EFO	5	EFO	material property	coronavirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007224	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." []	4388495	\N	\N	EFO	6	EFO	experimental factor	coronavirus infectious disease
EFO:0007225	\N	\N	"A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." []	EFO:0007225	"A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." []	68473	\N	\N	EFO	0	EFO	cowpox	cowpox
EFO:0000701	EFO:0007225	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007225	"A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." []	210575	\N	\N	EFO	1	EFO	skin disease	cowpox
EFO:0000763	EFO:0007225	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007225	"A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." []	210576	\N	\N	EFO	1	EFO	viral disease	cowpox
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007225	"A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." []	563774	\N	\N	EFO	2	EFO	disease	cowpox
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007225	"A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." []	563775	\N	\N	EFO	2	EFO	infectious disease	cowpox
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007225	"A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." []	2027516	\N	\N	EFO	4	EFO	disposition	cowpox
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007225	"A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." []	1144962	\N	\N	EFO	3	EFO	disease	cowpox
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007225	"A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." []	2999858	\N	\N	EFO	5	EFO	material property	cowpox
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007225	"A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." []	4132721	\N	\N	EFO	6	EFO	experimental factor	cowpox
EFO:0007226	\N	\N	"An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue." []	EFO:0007226	"An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue." []	68474	\N	\N	EFO	0	EFO	coxsackievirus infectious disease	coxsackievirus infectious disease
EFO:0005741	EFO:0007226	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007226	"An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue." []	210577	\N	\N	EFO	1	EFO	infectious disease	coxsackievirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007226	"An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue." []	563776	\N	\N	EFO	2	EFO	disease	coxsackievirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007226	"An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue." []	1144963	\N	\N	EFO	3	EFO	disposition	coxsackievirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007226	"An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue." []	2027517	\N	\N	EFO	4	EFO	material property	coxsackievirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007226	"An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue." []	3178941	\N	\N	EFO	5	EFO	experimental factor	coxsackievirus infectious disease
EFO:0007227	\N	\N	"A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." []	EFO:0007227	"A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." []	68475	\N	\N	EFO	0	EFO	croup	croup
EFO:0000684	EFO:0007227	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007227	"A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." []	210578	\N	\N	EFO	1	EFO	respiratory system disease	croup
EFO:0005741	EFO:0007227	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007227	"A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." []	210579	\N	\N	EFO	1	EFO	infectious disease	croup
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007227	"A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." []	563777	\N	\N	EFO	2	EFO	disease	croup
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007227	"A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." []	563778	\N	\N	EFO	2	EFO	disease	croup
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007227	"A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." []	1144964	\N	\N	EFO	3	EFO	disposition	croup
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007227	"A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." []	2027518	\N	\N	EFO	4	EFO	material property	croup
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007227	"A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." []	3178942	\N	\N	EFO	5	EFO	experimental factor	croup
EFO:0007228	\N	\N	"A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." []	EFO:0007228	"A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." []	68476	\N	\N	EFO	0	EFO	cryptococcal meningitis	cryptococcal meningitis
EFO:0000584	EFO:0007228	\N	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	EFO:0007228	"A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." []	210580	\N	\N	EFO	1	EFO	infectious meningitis	cryptococcal meningitis
EFO:0005741	EFO:0000584	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007228	"A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." []	563779	\N	\N	EFO	2	EFO	infectious disease	cryptococcal meningitis
EFO:0005774	EFO:0000584	\N	"A disease affecting the brain or part of the brain." []	EFO:0007228	"A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." []	563780	\N	\N	EFO	2	EFO	brain disease	cryptococcal meningitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007228	"A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." []	1144965	\N	\N	EFO	3	EFO	disease	cryptococcal meningitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007228	"A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." []	1144966	\N	\N	EFO	3	EFO	nervous system disease	cryptococcal meningitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007228	"A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." []	3178944	\N	\N	EFO	5	EFO	disposition	cryptococcal meningitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007228	"A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." []	2027520	\N	\N	EFO	4	EFO	disease	cryptococcal meningitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007228	"A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." []	4132722	\N	\N	EFO	6	EFO	material property	cryptococcal meningitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007228	"A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." []	5181036	\N	\N	EFO	7	EFO	experimental factor	cryptococcal meningitis
EFO:0007229	\N	\N	"An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii." []	EFO:0007229	"An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii." []	68477	\N	\N	EFO	0	EFO	cryptococcosis	cryptococcosis
EFO:0000540	EFO:0007229	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007229	"An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii." []	210581	\N	\N	EFO	1	EFO	immune system disease	cryptococcosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007229	"An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii." []	563781	\N	\N	EFO	2	EFO	disease	cryptococcosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007229	"An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii." []	1144967	\N	\N	EFO	3	EFO	disposition	cryptococcosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007229	"An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii." []	2027521	\N	\N	EFO	4	EFO	material property	cryptococcosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007229	"An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii." []	3178945	\N	\N	EFO	5	EFO	experimental factor	cryptococcosis
EFO:0007230	\N	\N	"A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." []	EFO:0007230	"A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." []	68478	\N	\N	EFO	0	EFO	cyclosporiasis	cyclosporiasis
EFO:0000405	EFO:0007230	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007230	"A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." []	210582	\N	\N	EFO	1	EFO	digestive system disease	cyclosporiasis
EFO:0001067	EFO:0007230	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007230	"A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." []	210583	\N	\N	EFO	1	EFO	parasitic infection	cyclosporiasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007230	"A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." []	563782	\N	\N	EFO	2	EFO	disease	cyclosporiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007230	"A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." []	563783	\N	\N	EFO	2	EFO	infectious disease	cyclosporiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007230	"A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." []	2027523	\N	\N	EFO	4	EFO	disposition	cyclosporiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007230	"A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." []	1144969	\N	\N	EFO	3	EFO	disease	cyclosporiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007230	"A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." []	2999859	\N	\N	EFO	5	EFO	material property	cyclosporiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007230	"A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." []	4132723	\N	\N	EFO	6	EFO	experimental factor	cyclosporiasis
EFO:0007231	\N	\N	"A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." []	EFO:0007231	"A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." []	68479	\N	\N	EFO	0	EFO	cysticercosis	cysticercosis
EFO:0001067	EFO:0007231	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007231	"A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." []	210584	\N	\N	EFO	1	EFO	parasitic infection	cysticercosis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007231	"A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." []	563784	\N	\N	EFO	2	EFO	infectious disease	cysticercosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007231	"A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." []	1144970	\N	\N	EFO	3	EFO	disease	cysticercosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007231	"A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." []	2027524	\N	\N	EFO	4	EFO	disposition	cysticercosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007231	"A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." []	3178947	\N	\N	EFO	5	EFO	material property	cysticercosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007231	"A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." []	4388497	\N	\N	EFO	6	EFO	experimental factor	cysticercosis
EFO:0007232	\N	\N	"A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." []	EFO:0007232	"A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." []	68480	\N	\N	EFO	0	EFO	cystoisosporiasis	cystoisosporiasis
EFO:0001067	EFO:0007232	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007232	"A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." []	210585	\N	\N	EFO	1	EFO	parasitic infection	cystoisosporiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007232	"A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." []	563785	\N	\N	EFO	2	EFO	infectious disease	cystoisosporiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007232	"A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." []	1144971	\N	\N	EFO	3	EFO	disease	cystoisosporiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007232	"A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." []	2027525	\N	\N	EFO	4	EFO	disposition	cystoisosporiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007232	"A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." []	3178948	\N	\N	EFO	5	EFO	material property	cystoisosporiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007232	"A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." []	4388498	\N	\N	EFO	6	EFO	experimental factor	cystoisosporiasis
EFO:0007233	\N	\N	"a disease in diaphragm" []	EFO:0007233	"a disease in diaphragm" []	68481	\N	\N	EFO	0	EFO	diaphragm disease	diaphragm disease
EFO:0000684	EFO:0007233	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007233	"a disease in diaphragm" []	210586	\N	\N	EFO	1	EFO	respiratory system disease	diaphragm disease
EFO:0002970	EFO:0007233	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:0007233	"a disease in diaphragm" []	210587	\N	\N	EFO	1	EFO	muscular disease	diaphragm disease
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007233	"a disease in diaphragm" []	563786	\N	\N	EFO	2	EFO	disease	diaphragm disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:0007233	"a disease in diaphragm" []	563787	\N	\N	EFO	2	EFO	skeletal system disease	diaphragm disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007233	"a disease in diaphragm" []	2027527	\N	\N	EFO	4	EFO	disposition	diaphragm disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007233	"a disease in diaphragm" []	1144973	\N	\N	EFO	3	EFO	disease	diaphragm disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007233	"a disease in diaphragm" []	2999860	\N	\N	EFO	5	EFO	material property	diaphragm disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007233	"a disease in diaphragm" []	4132724	\N	\N	EFO	6	EFO	experimental factor	diaphragm disease
EFO:0007234	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	EFO:0007234	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	68482	\N	\N	EFO	0	EFO	dicrocoeliasis	dicrocoeliasis
EFO:0001067	EFO:0007234	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007234	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	210588	\N	\N	EFO	1	EFO	parasitic infection	dicrocoeliasis
EFO:0001421	EFO:0007234	\N	"Pathological processes of the LIVER." []	EFO:0007234	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	210589	\N	\N	EFO	1	EFO	liver disease	dicrocoeliasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007234	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	563788	\N	\N	EFO	2	EFO	infectious disease	dicrocoeliasis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007234	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	563789	\N	\N	EFO	2	EFO	digestive system disease	dicrocoeliasis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0007234	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	563790	\N	\N	EFO	2	EFO	endocrine system disease	dicrocoeliasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007234	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	1144974	\N	\N	EFO	3	EFO	disease	dicrocoeliasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007234	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	1144975	\N	\N	EFO	3	EFO	disease	dicrocoeliasis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007234	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	1144976	\N	\N	EFO	3	EFO	disease	dicrocoeliasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007234	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	2027528	\N	\N	EFO	4	EFO	disposition	dicrocoeliasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007234	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	3178950	\N	\N	EFO	5	EFO	material property	dicrocoeliasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007234	"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." []	4388499	\N	\N	EFO	6	EFO	experimental factor	dicrocoeliasis
EFO:0007235	\N	\N	"A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus." []	EFO:0007235	"A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus." []	68483	\N	\N	EFO	0	EFO	Dictyocaulus infectious disease	Dictyocaulus infectious disease
EFO:0005932	EFO:0007235	\N	"A disease that occurs in animals." []	EFO:0007235	"A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus." []	210590	\N	\N	EFO	1	EFO	animal disease	Dictyocaulus infectious disease
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007235	"A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus." []	563791	\N	\N	EFO	2	EFO	disease	Dictyocaulus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007235	"A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus." []	1144977	\N	\N	EFO	3	EFO	disposition	Dictyocaulus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007235	"A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus." []	2027529	\N	\N	EFO	4	EFO	material property	Dictyocaulus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007235	"A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus." []	3178951	\N	\N	EFO	5	EFO	experimental factor	Dictyocaulus infectious disease
EFO:0007236	\N	\N	"A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." []	EFO:0007236	"A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." []	68484	\N	\N	EFO	0	EFO	diffuse idiopathic skeletal hyperostosis	diffuse idiopathic skeletal hyperostosis
EFO:0004260	EFO:0007236	\N	"Diseases of BONES." []	EFO:0007236	"A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." []	210591	\N	\N	EFO	1	EFO	bone disease	diffuse idiopathic skeletal hyperostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0007236	"A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." []	563792	\N	\N	EFO	2	EFO	skeletal system disease	diffuse idiopathic skeletal hyperostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007236	"A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." []	1144978	\N	\N	EFO	3	EFO	disease	diffuse idiopathic skeletal hyperostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007236	"A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." []	2027530	\N	\N	EFO	4	EFO	disposition	diffuse idiopathic skeletal hyperostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007236	"A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." []	3178952	\N	\N	EFO	5	EFO	material property	diffuse idiopathic skeletal hyperostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007236	"A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." []	4388500	\N	\N	EFO	6	EFO	experimental factor	diffuse idiopathic skeletal hyperostosis
EFO:0007237	\N	\N	"A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis." []	EFO:0007237	"A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis." []	68485	\N	\N	EFO	0	EFO	dipetalonemiasis	dipetalonemiasis
EFO:0000701	EFO:0007237	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007237	"A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis." []	210592	\N	\N	EFO	1	EFO	skin disease	dipetalonemiasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007237	"A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis." []	563793	\N	\N	EFO	2	EFO	disease	dipetalonemiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007237	"A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis." []	1144979	\N	\N	EFO	3	EFO	disposition	dipetalonemiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007237	"A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis." []	2027531	\N	\N	EFO	4	EFO	material property	dipetalonemiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007237	"A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis." []	3178953	\N	\N	EFO	5	EFO	experimental factor	dipetalonemiasis
EFO:0007238	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." []	EFO:0007238	"A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." []	68486	\N	\N	EFO	0	EFO	diphyllobothriasis	diphyllobothriasis
EFO:0001067	EFO:0007238	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007238	"A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." []	210593	\N	\N	EFO	1	EFO	parasitic infection	diphyllobothriasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007238	"A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." []	563794	\N	\N	EFO	2	EFO	infectious disease	diphyllobothriasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007238	"A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." []	1144980	\N	\N	EFO	3	EFO	disease	diphyllobothriasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007238	"A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." []	2027532	\N	\N	EFO	4	EFO	disposition	diphyllobothriasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007238	"A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." []	3178954	\N	\N	EFO	5	EFO	material property	diphyllobothriasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007238	"A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." []	4388501	\N	\N	EFO	6	EFO	experimental factor	diphyllobothriasis
EFO:0007239	\N	\N	"A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions." []	EFO:0007239	"A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions." []	68487	\N	\N	EFO	0	EFO	dirofilariasis	dirofilariasis
EFO:0000701	EFO:0007239	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007239	"A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions." []	210594	\N	\N	EFO	1	EFO	skin disease	dirofilariasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007239	"A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions." []	563795	\N	\N	EFO	2	EFO	disease	dirofilariasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007239	"A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions." []	1144981	\N	\N	EFO	3	EFO	disposition	dirofilariasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007239	"A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions." []	2027533	\N	\N	EFO	4	EFO	material property	dirofilariasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007239	"A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions." []	3178955	\N	\N	EFO	5	EFO	experimental factor	dirofilariasis
EFO:0007240	\N	\N	"A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs." []	EFO:0007240	"A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs." []	68488	\N	\N	EFO	0	EFO	dourine	dourine
EFO:0005932	EFO:0007240	\N	"A disease that occurs in animals." []	EFO:0007240	"A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs." []	210595	\N	\N	EFO	1	EFO	animal disease	dourine
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007240	"A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs." []	563796	\N	\N	EFO	2	EFO	disease	dourine
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007240	"A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs." []	1144982	\N	\N	EFO	3	EFO	disposition	dourine
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007240	"A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs." []	2027534	\N	\N	EFO	4	EFO	material property	dourine
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007240	"A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs." []	3178956	\N	\N	EFO	5	EFO	experimental factor	dourine
EFO:0007241	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection." []	EFO:0007241	"A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection." []	68489	\N	\N	EFO	0	EFO	dracunculiasis	dracunculiasis
EFO:0001067	EFO:0007241	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007241	"A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection." []	210596	\N	\N	EFO	1	EFO	parasitic infection	dracunculiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007241	"A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection." []	563797	\N	\N	EFO	2	EFO	infectious disease	dracunculiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007241	"A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection." []	1144983	\N	\N	EFO	3	EFO	disease	dracunculiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007241	"A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection." []	2027535	\N	\N	EFO	4	EFO	disposition	dracunculiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007241	"A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection." []	3178957	\N	\N	EFO	5	EFO	material property	dracunculiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007241	"A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection." []	4388502	\N	\N	EFO	6	EFO	experimental factor	dracunculiasis
EFO:0007242	\N	\N	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma." []	EFO:0007242	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma." []	68490	\N	\N	EFO	0	EFO	Eastern equine encephalitis	Eastern equine encephalitis
EFO:0001423	EFO:0007242	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:0007242	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma." []	210597	\N	\N	EFO	1	EFO	encephalomyelitis	Eastern equine encephalitis
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:0007242	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma." []	563798	\N	\N	EFO	2	EFO	central nervous system infection	Eastern equine encephalitis
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007242	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma." []	1144984	\N	\N	EFO	3	EFO	nervous system disease	Eastern equine encephalitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007242	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma." []	2027536	\N	\N	EFO	4	EFO	disease	Eastern equine encephalitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007242	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma." []	3178958	\N	\N	EFO	5	EFO	disposition	Eastern equine encephalitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007242	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma." []	4388503	\N	\N	EFO	6	EFO	material property	Eastern equine encephalitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007242	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma." []	5408916	\N	\N	EFO	7	EFO	experimental factor	Eastern equine encephalitis
EFO:0007243	\N	\N	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding." []	EFO:0007243	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding." []	68491	\N	\N	EFO	0	EFO	Ebola hemorrhagic fever	Ebola hemorrhagic fever
EFO:0000763	EFO:0007243	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007243	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding." []	210598	\N	\N	EFO	1	EFO	viral disease	Ebola hemorrhagic fever
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007243	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding." []	563799	\N	\N	EFO	2	EFO	infectious disease	Ebola hemorrhagic fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007243	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding." []	1144985	\N	\N	EFO	3	EFO	disease	Ebola hemorrhagic fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007243	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding." []	2027537	\N	\N	EFO	4	EFO	disposition	Ebola hemorrhagic fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007243	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding." []	3178959	\N	\N	EFO	5	EFO	material property	Ebola hemorrhagic fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007243	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding." []	4388504	\N	\N	EFO	6	EFO	experimental factor	Ebola hemorrhagic fever
EFO:0007244	\N	\N	"A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." []	EFO:0007244	"A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." []	68492	\N	\N	EFO	0	EFO	Ebstein anomaly	Ebstein anomaly
EFO:0003777	EFO:0007244	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0007244	"A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." []	210599	\N	\N	EFO	1	EFO	heart disease	Ebstein anomaly
EFO:0005775	EFO:0007244	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:0007244	"A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." []	210600	\N	\N	EFO	1	EFO	aortic disease	Ebstein anomaly
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007244	"A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." []	563800	\N	\N	EFO	2	EFO	cardiovascular disease	Ebstein anomaly
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0007244	"A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." []	563801	\N	\N	EFO	2	EFO	vascular disease	Ebstein anomaly
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007244	"A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." []	2027539	\N	\N	EFO	4	EFO	disease	Ebstein anomaly
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007244	"A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." []	1144987	\N	\N	EFO	3	EFO	cardiovascular disease	Ebstein anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007244	"A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." []	2999861	\N	\N	EFO	5	EFO	disposition	Ebstein anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007244	"A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." []	4132725	\N	\N	EFO	6	EFO	material property	Ebstein anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007244	"A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." []	5181037	\N	\N	EFO	7	EFO	experimental factor	Ebstein anomaly
EFO:0007245	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys." []	EFO:0007245	"A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys." []	68493	\N	\N	EFO	0	EFO	echinococcosis	echinococcosis
EFO:0001067	EFO:0007245	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007245	"A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys." []	210601	\N	\N	EFO	1	EFO	parasitic infection	echinococcosis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007245	"A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys." []	563802	\N	\N	EFO	2	EFO	infectious disease	echinococcosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007245	"A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys." []	1144988	\N	\N	EFO	3	EFO	disease	echinococcosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007245	"A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys." []	2027540	\N	\N	EFO	4	EFO	disposition	echinococcosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007245	"A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys." []	3178961	\N	\N	EFO	5	EFO	material property	echinococcosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007245	"A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys." []	4388506	\N	\N	EFO	6	EFO	experimental factor	echinococcosis
EFO:0007246	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." []	EFO:0007246	"A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." []	68494	\N	\N	EFO	0	EFO	echinostomiasis	echinostomiasis
EFO:0000405	EFO:0007246	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007246	"A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." []	210602	\N	\N	EFO	1	EFO	digestive system disease	echinostomiasis
EFO:0001067	EFO:0007246	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007246	"A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." []	210603	\N	\N	EFO	1	EFO	parasitic infection	echinostomiasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007246	"A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." []	563803	\N	\N	EFO	2	EFO	disease	echinostomiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007246	"A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." []	563804	\N	\N	EFO	2	EFO	infectious disease	echinostomiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007246	"A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." []	2027542	\N	\N	EFO	4	EFO	disposition	echinostomiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007246	"A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." []	1144990	\N	\N	EFO	3	EFO	disease	echinostomiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007246	"A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." []	2999862	\N	\N	EFO	5	EFO	material property	echinostomiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007246	"A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." []	4132726	\N	\N	EFO	6	EFO	experimental factor	echinostomiasis
EFO:0007247	\N	\N	"An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites." []	EFO:0007247	"An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites." []	68495	\N	\N	EFO	0	EFO	echovirus infectious disease	echovirus infectious disease
EFO:0005741	EFO:0007247	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007247	"An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites." []	210604	\N	\N	EFO	1	EFO	infectious disease	echovirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007247	"An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites." []	563805	\N	\N	EFO	2	EFO	disease	echovirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007247	"An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites." []	1144991	\N	\N	EFO	3	EFO	disposition	echovirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007247	"An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites." []	2027543	\N	\N	EFO	4	EFO	material property	echovirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007247	"An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites." []	3178963	\N	\N	EFO	5	EFO	experimental factor	echovirus infectious disease
EFO:0007248	\N	\N	"A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." []	EFO:0007248	"A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." []	68496	\N	\N	EFO	0	EFO	egg allergy	egg allergy
EFO:1001890	EFO:0007248	\N	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	EFO:0007248	"A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." []	210605	\N	\N	EFO	1	EFO	food allergy	egg allergy
EFO:0003785	EFO:1001890	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0007248	"A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." []	563806	\N	\N	EFO	2	EFO	allergy	egg allergy
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007248	"A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." []	1144992	\N	\N	EFO	3	EFO	immune system disease	egg allergy
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007248	"A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." []	2027544	\N	\N	EFO	4	EFO	disease	egg allergy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007248	"A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." []	3178964	\N	\N	EFO	5	EFO	disposition	egg allergy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007248	"A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." []	4388507	\N	\N	EFO	6	EFO	material property	egg allergy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007248	"A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." []	5408917	\N	\N	EFO	7	EFO	experimental factor	egg allergy
EFO:0007249	\N	\N	"Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." []	EFO:0007249	"Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." []	68497	\N	\N	EFO	0	EFO	emphysematous cholecystitis	emphysematous cholecystitis
EFO:0003832	EFO:0007249	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:0007249	"Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." []	210606	\N	\N	EFO	1	EFO	gallbladder disease	emphysematous cholecystitis
EFO:1000025	EFO:0007249	\N	"An acute or chronic inflammatory process affecting the bladder." []	EFO:0007249	"Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." []	210607	\N	\N	EFO	1	EFO	cystitis	emphysematous cholecystitis
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007249	"Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." []	563807	\N	\N	EFO	2	EFO	digestive system disease	emphysematous cholecystitis
EFO:1000018	EFO:1000025	\N	"A disorder affecting the urinary bladder" []	EFO:0007249	"Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." []	563808	\N	\N	EFO	2	EFO	bladder disease	emphysematous cholecystitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007249	"Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." []	1144993	\N	\N	EFO	3	EFO	disease	emphysematous cholecystitis
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007249	"Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." []	1144994	\N	\N	EFO	3	EFO	disease	emphysematous cholecystitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007249	"Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." []	2027545	\N	\N	EFO	4	EFO	disposition	emphysematous cholecystitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007249	"Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." []	3178965	\N	\N	EFO	5	EFO	material property	emphysematous cholecystitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007249	"Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." []	4388508	\N	\N	EFO	6	EFO	experimental factor	emphysematous cholecystitis
EFO:0007250	\N	\N	"A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem." []	EFO:0007250	"A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem." []	68498	\N	\N	EFO	0	EFO	encephalitozoonosis	encephalitozoonosis
EFO:0005741	EFO:0007250	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007250	"A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem." []	210608	\N	\N	EFO	1	EFO	infectious disease	encephalitozoonosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007250	"A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem." []	563809	\N	\N	EFO	2	EFO	disease	encephalitozoonosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007250	"A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem." []	1144995	\N	\N	EFO	3	EFO	disposition	encephalitozoonosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007250	"A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem." []	2027546	\N	\N	EFO	4	EFO	material property	encephalitozoonosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007250	"A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem." []	3178966	\N	\N	EFO	5	EFO	experimental factor	encephalitozoonosis
EFO:0007251	\N	\N	"An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." []	EFO:0007251	"An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." []	68499	\N	\N	EFO	0	EFO	endocardial fibroelastosis	endocardial fibroelastosis
EFO:0003777	EFO:0007251	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0007251	"An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." []	210609	\N	\N	EFO	1	EFO	heart disease	endocardial fibroelastosis
EFO:0004264	EFO:0007251	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0007251	"An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." []	210610	\N	\N	EFO	1	EFO	vascular disease	endocardial fibroelastosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007251	"An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." []	563810	\N	\N	EFO	2	EFO	cardiovascular disease	endocardial fibroelastosis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007251	"An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." []	563811	\N	\N	EFO	2	EFO	cardiovascular disease	endocardial fibroelastosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007251	"An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." []	1144996	\N	\N	EFO	3	EFO	disease	endocardial fibroelastosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007251	"An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." []	2027547	\N	\N	EFO	4	EFO	disposition	endocardial fibroelastosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007251	"An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." []	3178967	\N	\N	EFO	5	EFO	material property	endocardial fibroelastosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007251	"An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." []	4388509	\N	\N	EFO	6	EFO	experimental factor	endocardial fibroelastosis
EFO:0007252	\N	\N	"A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo." []	EFO:0007252	"A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo." []	68500	\N	\N	EFO	0	EFO	endodermal sinus tumor	endodermal sinus tumor
EFO:0000514	EFO:0007252	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:0007252	"A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo." []	210611	\N	\N	EFO	1	EFO	germ cell tumor	endodermal sinus tumor
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007252	"A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo." []	563812	\N	\N	EFO	2	EFO	neoplasm	endodermal sinus tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007252	"A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo." []	1144997	\N	\N	EFO	3	EFO	disease	endodermal sinus tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007252	"A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo." []	2027548	\N	\N	EFO	4	EFO	disposition	endodermal sinus tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007252	"A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo." []	3178968	\N	\N	EFO	5	EFO	material property	endodermal sinus tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007252	"A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo." []	4388510	\N	\N	EFO	6	EFO	experimental factor	endodermal sinus tumor
EFO:0007253	\N	\N	"A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands." []	EFO:0007253	"A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands." []	68501	\N	\N	EFO	0	EFO	Enoplea infectious disease	Enoplea infectious disease
EFO:0001067	EFO:0007253	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007253	"A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands." []	210612	\N	\N	EFO	1	EFO	parasitic infection	Enoplea infectious disease
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007253	"A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands." []	563813	\N	\N	EFO	2	EFO	infectious disease	Enoplea infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007253	"A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands." []	1144998	\N	\N	EFO	3	EFO	disease	Enoplea infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007253	"A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands." []	2027549	\N	\N	EFO	4	EFO	disposition	Enoplea infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007253	"A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands." []	3178969	\N	\N	EFO	5	EFO	material property	Enoplea infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007253	"A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands." []	4388511	\N	\N	EFO	6	EFO	experimental factor	Enoplea infectious disease
EFO:0007254	\N	\N	"A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching." []	EFO:0007254	"A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching." []	68502	\N	\N	EFO	0	EFO	enterobiasis	enterobiasis
EFO:0001067	EFO:0007254	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007254	"A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching." []	210613	\N	\N	EFO	1	EFO	parasitic infection	enterobiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007254	"A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching." []	563814	\N	\N	EFO	2	EFO	infectious disease	enterobiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007254	"A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching." []	1144999	\N	\N	EFO	3	EFO	disease	enterobiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007254	"A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching." []	2027550	\N	\N	EFO	4	EFO	disposition	enterobiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007254	"A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching." []	3178970	\N	\N	EFO	5	EFO	material property	enterobiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007254	"A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching." []	4388512	\N	\N	EFO	6	EFO	experimental factor	enterobiasis
EFO:0007255	\N	\N	"A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food." []	EFO:0007255	"A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food." []	68503	\N	\N	EFO	0	EFO	Enterovirus infectious disease	Enterovirus infectious disease
EFO:0000763	EFO:0007255	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007255	"A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food." []	210614	\N	\N	EFO	1	EFO	viral disease	Enterovirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007255	"A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food." []	563815	\N	\N	EFO	2	EFO	infectious disease	Enterovirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007255	"A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food." []	1145000	\N	\N	EFO	3	EFO	disease	Enterovirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007255	"A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food." []	2027551	\N	\N	EFO	4	EFO	disposition	Enterovirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007255	"A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food." []	3178971	\N	\N	EFO	5	EFO	material property	Enterovirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007255	"A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food." []	4388513	\N	\N	EFO	6	EFO	experimental factor	Enterovirus infectious disease
EFO:0007256	\N	\N	"A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." []	EFO:0007256	"A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." []	68504	\N	\N	EFO	0	EFO	enzootic pneumonia of calves	enzootic pneumonia of calves
EFO:0003106	EFO:0007256	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:0007256	"A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." []	210615	\N	\N	EFO	1	EFO	pneumonia	enzootic pneumonia of calves
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007256	"A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." []	563816	\N	\N	EFO	2	EFO	lung disease	enzootic pneumonia of calves
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007256	"A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." []	563817	\N	\N	EFO	2	EFO	infectious disease	enzootic pneumonia of calves
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007256	"A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." []	1145001	\N	\N	EFO	3	EFO	respiratory system disease	enzootic pneumonia of calves
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007256	"A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." []	1145002	\N	\N	EFO	3	EFO	disease	enzootic pneumonia of calves
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007256	"A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." []	2027552	\N	\N	EFO	4	EFO	disease	enzootic pneumonia of calves
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007256	"A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." []	3178972	\N	\N	EFO	5	EFO	disposition	enzootic pneumonia of calves
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007256	"A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." []	4132727	\N	\N	EFO	6	EFO	material property	enzootic pneumonia of calves
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007256	"A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." []	5181038	\N	\N	EFO	7	EFO	experimental factor	enzootic pneumonia of calves
EFO:0007257	\N	\N	"A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." []	EFO:0007257	"A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." []	68505	\N	\N	EFO	0	EFO	eosinophilic pneumonia	eosinophilic pneumonia
EFO:0003106	EFO:0007257	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:0007257	"A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." []	210616	\N	\N	EFO	1	EFO	pneumonia	eosinophilic pneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007257	"A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." []	563818	\N	\N	EFO	2	EFO	lung disease	eosinophilic pneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007257	"A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." []	563819	\N	\N	EFO	2	EFO	infectious disease	eosinophilic pneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007257	"A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." []	1145003	\N	\N	EFO	3	EFO	respiratory system disease	eosinophilic pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007257	"A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." []	1145004	\N	\N	EFO	3	EFO	disease	eosinophilic pneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007257	"A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." []	2027554	\N	\N	EFO	4	EFO	disease	eosinophilic pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007257	"A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." []	3178974	\N	\N	EFO	5	EFO	disposition	eosinophilic pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007257	"A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." []	4132728	\N	\N	EFO	6	EFO	material property	eosinophilic pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007257	"A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." []	5181039	\N	\N	EFO	7	EFO	experimental factor	eosinophilic pneumonia
EFO:0007258	\N	\N	"A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation." []	EFO:0007258	"A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation." []	68506	\N	\N	EFO	0	EFO	ephemeral fever	ephemeral fever
EFO:0005932	EFO:0007258	\N	"A disease that occurs in animals." []	EFO:0007258	"A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation." []	210617	\N	\N	EFO	1	EFO	animal disease	ephemeral fever
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007258	"A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation." []	563820	\N	\N	EFO	2	EFO	disease	ephemeral fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007258	"A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation." []	1145005	\N	\N	EFO	3	EFO	disposition	ephemeral fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007258	"A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation." []	2027556	\N	\N	EFO	4	EFO	material property	ephemeral fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007258	"A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation." []	3178976	\N	\N	EFO	5	EFO	experimental factor	ephemeral fever
EFO:0007259	\N	\N	"A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache." []	EFO:0007259	"A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache." []	68507	\N	\N	EFO	0	EFO	epidemic pleurodynia	epidemic pleurodynia
EFO:0000763	EFO:0007259	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007259	"A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache." []	210618	\N	\N	EFO	1	EFO	viral disease	epidemic pleurodynia
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007259	"A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache." []	563821	\N	\N	EFO	2	EFO	infectious disease	epidemic pleurodynia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007259	"A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache." []	1145006	\N	\N	EFO	3	EFO	disease	epidemic pleurodynia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007259	"A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache." []	2027557	\N	\N	EFO	4	EFO	disposition	epidemic pleurodynia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007259	"A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache." []	3178977	\N	\N	EFO	5	EFO	material property	epidemic pleurodynia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007259	"A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache." []	4388516	\N	\N	EFO	6	EFO	experimental factor	epidemic pleurodynia
EFO:0007260	\N	\N	"Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine." []	EFO:0007260	"Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine." []	68508	\N	\N	EFO	0	EFO	epidural abscess	epidural abscess
EFO:1000158	EFO:0007260	\N	"A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." []	EFO:0007260	"Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine." []	210619	\N	\N	EFO	1	EFO	Central Nervous System Neoplasm	epidural abscess
EFO:0000616	EFO:1000158	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007260	"Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine." []	563822	\N	\N	EFO	2	EFO	neoplasm	epidural abscess
EFO:0000618	EFO:1000158	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007260	"Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine." []	563823	\N	\N	EFO	2	EFO	nervous system disease	epidural abscess
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007260	"Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine." []	1145007	\N	\N	EFO	3	EFO	disease	epidural abscess
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007260	"Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine." []	1145008	\N	\N	EFO	3	EFO	disease	epidural abscess
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007260	"Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine." []	2027558	\N	\N	EFO	4	EFO	disposition	epidural abscess
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007260	"Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine." []	3178978	\N	\N	EFO	5	EFO	material property	epidural abscess
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007260	"Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine." []	4388517	\N	\N	EFO	6	EFO	experimental factor	epidural abscess
EFO:0007261	\N	\N	"An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor." []	EFO:0007261	"An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor." []	68509	\N	\N	EFO	0	EFO	epiglottitis	epiglottitis
EFO:0000684	EFO:0007261	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007261	"An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor." []	210620	\N	\N	EFO	1	EFO	respiratory system disease	epiglottitis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007261	"An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor." []	563824	\N	\N	EFO	2	EFO	disease	epiglottitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007261	"An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor." []	1145009	\N	\N	EFO	3	EFO	disposition	epiglottitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007261	"An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor." []	2027559	\N	\N	EFO	4	EFO	material property	epiglottitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007261	"An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor." []	3178979	\N	\N	EFO	5	EFO	experimental factor	epiglottitis
EFO:0007262	\N	\N	"An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type." []	EFO:0007262	"An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type." []	68510	\N	\N	EFO	0	EFO	epilepsy with generalized tonic-clonic seizures	epilepsy with generalized tonic-clonic seizures
EFO:0000474	EFO:0007262	\N	"A disorder characterized by recurrent seizures" []	EFO:0007262	"An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type." []	210621	\N	\N	EFO	1	EFO	epilepsy	epilepsy with generalized tonic-clonic seizures
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:0007262	"An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type." []	563825	\N	\N	EFO	2	EFO	brain disease	epilepsy with generalized tonic-clonic seizures
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007262	"An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type." []	1145010	\N	\N	EFO	3	EFO	nervous system disease	epilepsy with generalized tonic-clonic seizures
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007262	"An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type." []	2027560	\N	\N	EFO	4	EFO	disease	epilepsy with generalized tonic-clonic seizures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007262	"An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type." []	3178980	\N	\N	EFO	5	EFO	disposition	epilepsy with generalized tonic-clonic seizures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007262	"An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type." []	4388518	\N	\N	EFO	6	EFO	material property	epilepsy with generalized tonic-clonic seizures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007262	"An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type." []	5408918	\N	\N	EFO	7	EFO	experimental factor	epilepsy with generalized tonic-clonic seizures
EFO:0007263	\N	\N	"A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat." []	EFO:0007263	"A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat." []	68511	\N	\N	EFO	0	EFO	equine infectious anemia	equine infectious anemia
EFO:0000763	EFO:0007263	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007263	"A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat." []	210622	\N	\N	EFO	1	EFO	viral disease	equine infectious anemia
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007263	"A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat." []	563826	\N	\N	EFO	2	EFO	infectious disease	equine infectious anemia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007263	"A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat." []	1145011	\N	\N	EFO	3	EFO	disease	equine infectious anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007263	"A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat." []	2027561	\N	\N	EFO	4	EFO	disposition	equine infectious anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007263	"A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat." []	3178981	\N	\N	EFO	5	EFO	material property	equine infectious anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007263	"A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat." []	4388519	\N	\N	EFO	6	EFO	experimental factor	equine infectious anemia
EFO:0007264	\N	\N	"A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead." []	EFO:0007264	"A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead." []	68512	\N	\N	EFO	0	EFO	ethmoid sinusitis	ethmoid sinusitis
EFO:0007486	EFO:0007264	\N	"A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." []	EFO:0007264	"A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead." []	210623	\N	\N	EFO	1	EFO	sinusitis	ethmoid sinusitis
EFO:0000684	EFO:0007486	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007264	"A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead." []	563827	\N	\N	EFO	2	EFO	respiratory system disease	ethmoid sinusitis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007264	"A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead." []	1145012	\N	\N	EFO	3	EFO	disease	ethmoid sinusitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007264	"A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead." []	2027562	\N	\N	EFO	4	EFO	disposition	ethmoid sinusitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007264	"A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead." []	3178982	\N	\N	EFO	5	EFO	material property	ethmoid sinusitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007264	"A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead." []	4388520	\N	\N	EFO	6	EFO	experimental factor	ethmoid sinusitis
EFO:0007265	\N	\N	"A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules." []	EFO:0007265	"A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules." []	68513	\N	\N	EFO	0	EFO	eumycotic mycetoma	eumycotic mycetoma
EFO:0000701	EFO:0007265	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007265	"A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules." []	210624	\N	\N	EFO	1	EFO	skin disease	eumycotic mycetoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007265	"A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules." []	563828	\N	\N	EFO	2	EFO	disease	eumycotic mycetoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007265	"A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules." []	1145013	\N	\N	EFO	3	EFO	disposition	eumycotic mycetoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007265	"A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules." []	2027563	\N	\N	EFO	4	EFO	material property	eumycotic mycetoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007265	"A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules." []	3178983	\N	\N	EFO	5	EFO	experimental factor	eumycotic mycetoma
EFO:0007266	\N	\N	"A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones." []	EFO:0007266	"A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones." []	68514	\N	\N	EFO	0	EFO	eunuchism	eunuchism
EFO:0000512	EFO:0007266	\N	"any diease of the reproductive system" []	EFO:0007266	"A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones." []	210625	\N	\N	EFO	1	EFO	reproductive system disease	eunuchism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007266	"A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones." []	563829	\N	\N	EFO	2	EFO	disease	eunuchism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007266	"A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones." []	1145014	\N	\N	EFO	3	EFO	disposition	eunuchism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007266	"A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones." []	2027564	\N	\N	EFO	4	EFO	material property	eunuchism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007266	"A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones." []	3178984	\N	\N	EFO	5	EFO	experimental factor	eunuchism
EFO:0007267	\N	\N	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	68515	\N	\N	EFO	0	EFO	factor VIII deficiency	factor VIII deficiency
EFO:0000319	EFO:0007267	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	210626	\N	\N	EFO	1	EFO	cardiovascular disease	factor VIII deficiency
Orphanet:448	EFO:0007267	\N	"" []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	210627	\N	\N	EFO	1	EFO	Hemophilia	factor VIII deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	563830	\N	\N	EFO	2	EFO	disease	factor VIII deficiency
Orphanet:68334	Orphanet:448	\N	"" []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	563831	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	factor VIII deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	5408919	\N	\N	EFO	7	EFO	disposition	factor VIII deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	1145016	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	factor VIII deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	5801810	\N	\N	EFO	8	EFO	material property	factor VIII deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	2027566	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	factor VIII deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	6378772	\N	\N	EFO	9	EFO	experimental factor	factor VIII deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	3178986	\N	\N	EFO	5	EFO	genetic disorder	factor VIII deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	3178987	\N	\N	EFO	5	EFO	hematological system disease	factor VIII deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	4388521	\N	\N	EFO	6	EFO	disease	factor VIII deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007267	"An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." []	4388522	\N	\N	EFO	6	EFO	disease	factor VIII deficiency
EFO:0007268	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	EFO:0007268	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	68516	\N	\N	EFO	0	EFO	fascioloidiasis	fascioloidiasis
EFO:0001067	EFO:0007268	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007268	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	210628	\N	\N	EFO	1	EFO	parasitic infection	fascioloidiasis
EFO:0001421	EFO:0007268	\N	"Pathological processes of the LIVER." []	EFO:0007268	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	210629	\N	\N	EFO	1	EFO	liver disease	fascioloidiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007268	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	563832	\N	\N	EFO	2	EFO	infectious disease	fascioloidiasis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007268	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	563833	\N	\N	EFO	2	EFO	digestive system disease	fascioloidiasis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0007268	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	563834	\N	\N	EFO	2	EFO	endocrine system disease	fascioloidiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007268	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	1145017	\N	\N	EFO	3	EFO	disease	fascioloidiasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007268	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	1145018	\N	\N	EFO	3	EFO	disease	fascioloidiasis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007268	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	1145019	\N	\N	EFO	3	EFO	disease	fascioloidiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007268	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	2027567	\N	\N	EFO	4	EFO	disposition	fascioloidiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007268	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	3178988	\N	\N	EFO	5	EFO	material property	fascioloidiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007268	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." []	4388523	\N	\N	EFO	6	EFO	experimental factor	fascioloidiasis
EFO:0007269	\N	\N	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	EFO:0007269	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	68517	\N	\N	EFO	0	EFO	Felty's syndrome	Felty's syndrome
EFO:0000685	EFO:0007269	\N	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	EFO:0007269	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	210630	\N	\N	EFO	1	EFO	rheumatoid arthritis	Felty's syndrome
EFO:0005856	EFO:0000685	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:0007269	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	563835	\N	\N	EFO	2	EFO	arthritis	Felty's syndrome
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0007269	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	1145020	\N	\N	EFO	3	EFO	autoimmune disease	Felty's syndrome
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0007269	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	1145021	\N	\N	EFO	3	EFO	rheumatic disease	Felty's syndrome
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007269	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	2027568	\N	\N	EFO	4	EFO	immune system disease	Felty's syndrome
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0007269	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	2027569	\N	\N	EFO	4	EFO	skeletal system disease	Felty's syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007269	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	3178989	\N	\N	EFO	5	EFO	disease	Felty's syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007269	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	3178990	\N	\N	EFO	5	EFO	disease	Felty's syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007269	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	4388524	\N	\N	EFO	6	EFO	disposition	Felty's syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007269	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	5408920	\N	\N	EFO	7	EFO	material property	Felty's syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007269	"A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." []	6147527	\N	\N	EFO	8	EFO	experimental factor	Felty's syndrome
EFO:0007270	\N	\N	"A bone cancer that is located_in the femur." []	EFO:0007270	"A bone cancer that is located_in the femur." []	68518	\N	\N	EFO	0	EFO	femoral cancer	femoral cancer
EFO:0003820	EFO:0007270	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:0007270	"A bone cancer that is located_in the femur." []	210631	\N	\N	EFO	1	EFO	bone neoplasm	femoral cancer
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007270	"A bone cancer that is located_in the femur." []	563836	\N	\N	EFO	2	EFO	neoplasm	femoral cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007270	"A bone cancer that is located_in the femur." []	1145022	\N	\N	EFO	3	EFO	disease	femoral cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007270	"A bone cancer that is located_in the femur." []	2027570	\N	\N	EFO	4	EFO	disposition	femoral cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007270	"A bone cancer that is located_in the femur." []	3178991	\N	\N	EFO	5	EFO	material property	femoral cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007270	"A bone cancer that is located_in the femur." []	4388525	\N	\N	EFO	6	EFO	experimental factor	femoral cancer
EFO:0007271	\N	\N	"A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue." []	EFO:0007271	"A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue." []	68519	\N	\N	EFO	0	EFO	fibroepithelial neoplasm	fibroepithelial neoplasm
EFO:0000616	EFO:0007271	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007271	"A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue." []	210632	\N	\N	EFO	1	EFO	neoplasm	fibroepithelial neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007271	"A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue." []	563837	\N	\N	EFO	2	EFO	disease	fibroepithelial neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007271	"A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue." []	1145023	\N	\N	EFO	3	EFO	disposition	fibroepithelial neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007271	"A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue." []	2027571	\N	\N	EFO	4	EFO	material property	fibroepithelial neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007271	"A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue." []	3178992	\N	\N	EFO	5	EFO	experimental factor	fibroepithelial neoplasm
EFO:0007272	\N	\N	"A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis." []	EFO:0007272	"A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis." []	68520	\N	\N	EFO	0	EFO	filarial elephantiasis	filarial elephantiasis
EFO:0000701	EFO:0007272	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007272	"A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis." []	210633	\N	\N	EFO	1	EFO	skin disease	filarial elephantiasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007272	"A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis." []	563838	\N	\N	EFO	2	EFO	disease	filarial elephantiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007272	"A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis." []	1145024	\N	\N	EFO	3	EFO	disposition	filarial elephantiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007272	"A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis." []	2027572	\N	\N	EFO	4	EFO	material property	filarial elephantiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007272	"A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis." []	3178993	\N	\N	EFO	5	EFO	experimental factor	filarial elephantiasis
EFO:0007273	\N	\N	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses." []	EFO:0007273	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses." []	68521	\N	\N	EFO	0	EFO	Filoviridae infectious disease	Filoviridae infectious disease
EFO:0000763	EFO:0007273	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007273	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses." []	210634	\N	\N	EFO	1	EFO	viral disease	Filoviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007273	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses." []	563839	\N	\N	EFO	2	EFO	infectious disease	Filoviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007273	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses." []	1145025	\N	\N	EFO	3	EFO	disease	Filoviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007273	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses." []	2027573	\N	\N	EFO	4	EFO	disposition	Filoviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007273	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses." []	3178994	\N	\N	EFO	5	EFO	material property	Filoviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007273	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses." []	4388526	\N	\N	EFO	6	EFO	experimental factor	Filoviridae infectious disease
EFO:0007274	\N	\N	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors." []	EFO:0007274	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors." []	68522	\N	\N	EFO	0	EFO	Flaviviridae infectious disease	Flaviviridae infectious disease
EFO:0000763	EFO:0007274	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007274	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors." []	210635	\N	\N	EFO	1	EFO	viral disease	Flaviviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007274	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors." []	563840	\N	\N	EFO	2	EFO	infectious disease	Flaviviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007274	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors." []	1145026	\N	\N	EFO	3	EFO	disease	Flaviviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007274	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors." []	2027574	\N	\N	EFO	4	EFO	disposition	Flaviviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007274	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors." []	3178995	\N	\N	EFO	5	EFO	material property	Flaviviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007274	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors." []	4388527	\N	\N	EFO	6	EFO	experimental factor	Flaviviridae infectious disease
EFO:0007275	\N	\N	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." []	EFO:0007275	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." []	68523	\N	\N	EFO	0	EFO	focal epithelial hyperplasia	focal epithelial hyperplasia
EFO:0000524	EFO:0007275	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007275	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." []	210636	\N	\N	EFO	1	EFO	head disease	focal epithelial hyperplasia
EFO:0000763	EFO:0007275	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007275	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." []	210637	\N	\N	EFO	1	EFO	viral disease	focal epithelial hyperplasia
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007275	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." []	563841	\N	\N	EFO	2	EFO	disease	focal epithelial hyperplasia
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007275	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." []	563842	\N	\N	EFO	2	EFO	infectious disease	focal epithelial hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007275	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." []	2027576	\N	\N	EFO	4	EFO	disposition	focal epithelial hyperplasia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007275	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." []	1145028	\N	\N	EFO	3	EFO	disease	focal epithelial hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007275	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." []	2999863	\N	\N	EFO	5	EFO	material property	focal epithelial hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007275	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." []	4132729	\N	\N	EFO	6	EFO	experimental factor	focal epithelial hyperplasia
EFO:0007276	\N	\N	"A dendritic cell sarcoma cancer that effects the follicular dendritic cells." []	EFO:0007276	"A dendritic cell sarcoma cancer that effects the follicular dendritic cells." []	68524	\N	\N	EFO	0	EFO	follicular dendritic cell sarcoma	follicular dendritic cell sarcoma
EFO:0000691	EFO:0007276	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0007276	"A dendritic cell sarcoma cancer that effects the follicular dendritic cells." []	210638	\N	\N	EFO	1	EFO	sarcoma	follicular dendritic cell sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007276	"A dendritic cell sarcoma cancer that effects the follicular dendritic cells." []	563843	\N	\N	EFO	2	EFO	cancer	follicular dendritic cell sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007276	"A dendritic cell sarcoma cancer that effects the follicular dendritic cells." []	1145029	\N	\N	EFO	3	EFO	neoplasm	follicular dendritic cell sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007276	"A dendritic cell sarcoma cancer that effects the follicular dendritic cells." []	2027577	\N	\N	EFO	4	EFO	disease	follicular dendritic cell sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007276	"A dendritic cell sarcoma cancer that effects the follicular dendritic cells." []	3178997	\N	\N	EFO	5	EFO	disposition	follicular dendritic cell sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007276	"A dendritic cell sarcoma cancer that effects the follicular dendritic cells." []	4388528	\N	\N	EFO	6	EFO	material property	follicular dendritic cell sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007276	"A dendritic cell sarcoma cancer that effects the follicular dendritic cells." []	5408921	\N	\N	EFO	7	EFO	experimental factor	follicular dendritic cell sarcoma
EFO:0007277	\N	\N	"A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." []	EFO:0007277	"A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." []	68525	\N	\N	EFO	0	EFO	foot and mouth disease	foot and mouth disease
EFO:0005932	EFO:0007277	\N	"A disease that occurs in animals." []	EFO:0007277	"A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." []	210639	\N	\N	EFO	1	EFO	animal disease	foot and mouth disease
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007277	"A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." []	563844	\N	\N	EFO	2	EFO	disease	foot and mouth disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007277	"A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." []	1145030	\N	\N	EFO	3	EFO	disposition	foot and mouth disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007277	"A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." []	2027578	\N	\N	EFO	4	EFO	material property	foot and mouth disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007277	"A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." []	3178998	\N	\N	EFO	5	EFO	experimental factor	foot and mouth disease
EFO:0007278	\N	\N	"A lung disease that is a mycosis caused by fungal growth in the lungs." []	EFO:0007278	"A lung disease that is a mycosis caused by fungal growth in the lungs." []	68526	\N	\N	EFO	0	EFO	fungal lung infectious disease	fungal lung infectious disease
EFO:0003818	EFO:0007278	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007278	"A lung disease that is a mycosis caused by fungal growth in the lungs." []	210640	\N	\N	EFO	1	EFO	lung disease	fungal lung infectious disease
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007278	"A lung disease that is a mycosis caused by fungal growth in the lungs." []	563845	\N	\N	EFO	2	EFO	respiratory system disease	fungal lung infectious disease
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007278	"A lung disease that is a mycosis caused by fungal growth in the lungs." []	1145031	\N	\N	EFO	3	EFO	disease	fungal lung infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007278	"A lung disease that is a mycosis caused by fungal growth in the lungs." []	2027579	\N	\N	EFO	4	EFO	disposition	fungal lung infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007278	"A lung disease that is a mycosis caused by fungal growth in the lungs." []	3178999	\N	\N	EFO	5	EFO	material property	fungal lung infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007278	"A lung disease that is a mycosis caused by fungal growth in the lungs." []	4388529	\N	\N	EFO	6	EFO	experimental factor	fungal lung infectious disease
EFO:0007279	\N	\N	"A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis." []	EFO:0007279	"A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis." []	68527	\N	\N	EFO	0	EFO	gas gangrene	gas gangrene
EFO:0000771	EFO:0007279	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007279	"A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis." []	210641	\N	\N	EFO	1	EFO	bacterial disease	gas gangrene
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007279	"A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis." []	563846	\N	\N	EFO	2	EFO	infectious disease	gas gangrene
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007279	"A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis." []	1145032	\N	\N	EFO	3	EFO	disease	gas gangrene
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007279	"A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis." []	2027580	\N	\N	EFO	4	EFO	disposition	gas gangrene
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007279	"A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis." []	3179000	\N	\N	EFO	5	EFO	material property	gas gangrene
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007279	"A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis." []	4388530	\N	\N	EFO	6	EFO	experimental factor	gas gangrene
EFO:0007280	\N	\N	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	EFO:0007280	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	68528	\N	\N	EFO	0	EFO	gastrointestinal tuberculosis	gastrointestinal tuberculosis
Orphanet:3389	EFO:0007280	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007280	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	210642	\N	\N	EFO	1	EFO	Tuberculosis	gastrointestinal tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007280	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	563847	\N	\N	EFO	2	EFO	respiratory system disease	gastrointestinal tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007280	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	563848	\N	\N	EFO	2	EFO	bacterial disease	gastrointestinal tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007280	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	1145033	\N	\N	EFO	3	EFO	disease	gastrointestinal tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007280	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	1145034	\N	\N	EFO	3	EFO	infectious disease	gastrointestinal tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007280	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	3179002	\N	\N	EFO	5	EFO	disposition	gastrointestinal tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007280	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	2027582	\N	\N	EFO	4	EFO	disease	gastrointestinal tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007280	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	4132730	\N	\N	EFO	6	EFO	material property	gastrointestinal tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007280	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	5181040	\N	\N	EFO	7	EFO	experimental factor	gastrointestinal tuberculosis
EFO:0007281	\N	\N	"A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." []	EFO:0007281	"A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." []	68529	\N	\N	EFO	0	EFO	geniculate herpes zoster	geniculate herpes zoster
EFO:0006510	EFO:0007281	\N	"A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." []	EFO:0007281	"A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." []	210643	\N	\N	EFO	1	EFO	Herpes Zoster	geniculate herpes zoster
EFO:0006509	EFO:0006510	\N	"A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." []	EFO:0007281	"A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." []	563849	\N	\N	EFO	2	EFO	Varicella Zoster infection	geniculate herpes zoster
EFO:0000763	EFO:0006509	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007281	"A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." []	1145035	\N	\N	EFO	3	EFO	viral disease	geniculate herpes zoster
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007281	"A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." []	2027583	\N	\N	EFO	4	EFO	infectious disease	geniculate herpes zoster
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007281	"A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." []	3179003	\N	\N	EFO	5	EFO	disease	geniculate herpes zoster
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007281	"A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." []	4388532	\N	\N	EFO	6	EFO	disposition	geniculate herpes zoster
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007281	"A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." []	5408922	\N	\N	EFO	7	EFO	material property	geniculate herpes zoster
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007281	"A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." []	6147528	\N	\N	EFO	8	EFO	experimental factor	geniculate herpes zoster
EFO:0007282	\N	\N	"A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands." []	EFO:0007282	"A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands." []	68530	\N	\N	EFO	0	EFO	genital herpes	genital herpes
EFO:0000763	EFO:0007282	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007282	"A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands." []	210644	\N	\N	EFO	1	EFO	viral disease	genital herpes
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007282	"A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands." []	563850	\N	\N	EFO	2	EFO	infectious disease	genital herpes
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007282	"A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands." []	1145036	\N	\N	EFO	3	EFO	disease	genital herpes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007282	"A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands." []	2027584	\N	\N	EFO	4	EFO	disposition	genital herpes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007282	"A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands." []	3179004	\N	\N	EFO	5	EFO	material property	genital herpes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007282	"A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands." []	4388533	\N	\N	EFO	6	EFO	experimental factor	genital herpes
EFO:0007283	\N	\N	"An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface." []	EFO:0007283	"An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface." []	68531	\N	\N	EFO	0	EFO	geographic tongue	geographic tongue
EFO:0000524	EFO:0007283	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007283	"An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface." []	210645	\N	\N	EFO	1	EFO	head disease	geographic tongue
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007283	"An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface." []	563851	\N	\N	EFO	2	EFO	disease	geographic tongue
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007283	"An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface." []	1145037	\N	\N	EFO	3	EFO	disposition	geographic tongue
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007283	"An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface." []	2027585	\N	\N	EFO	4	EFO	material property	geographic tongue
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007283	"An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface." []	3179005	\N	\N	EFO	5	EFO	experimental factor	geographic tongue
EFO:0007284	\N	\N	"An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people." []	EFO:0007284	"An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people." []	68532	\N	\N	EFO	0	EFO	geotrichosis	geotrichosis
EFO:0000540	EFO:0007284	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007284	"An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people." []	210646	\N	\N	EFO	1	EFO	immune system disease	geotrichosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007284	"An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people." []	563852	\N	\N	EFO	2	EFO	disease	geotrichosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007284	"An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people." []	1145038	\N	\N	EFO	3	EFO	disposition	geotrichosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007284	"An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people." []	2027586	\N	\N	EFO	4	EFO	material property	geotrichosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007284	"An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people." []	3179006	\N	\N	EFO	5	EFO	experimental factor	geotrichosis
EFO:0007285	\N	\N	"A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia." []	EFO:0007285	"A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia." []	68533	\N	\N	EFO	0	EFO	Gerstmann syndrome	Gerstmann syndrome
EFO:0000618	EFO:0007285	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007285	"A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia." []	210647	\N	\N	EFO	1	EFO	nervous system disease	Gerstmann syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007285	"A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia." []	563853	\N	\N	EFO	2	EFO	disease	Gerstmann syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007285	"A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia." []	1145039	\N	\N	EFO	3	EFO	disposition	Gerstmann syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007285	"A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia." []	2027587	\N	\N	EFO	4	EFO	material property	Gerstmann syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007285	"A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia." []	3179007	\N	\N	EFO	5	EFO	experimental factor	Gerstmann syndrome
EFO:0007286	\N	\N	"A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs." []	EFO:0007286	"A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs." []	68534	\N	\N	EFO	0	EFO	glanders	glanders
EFO:0000771	EFO:0007286	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007286	"A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs." []	210648	\N	\N	EFO	1	EFO	bacterial disease	glanders
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007286	"A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs." []	563854	\N	\N	EFO	2	EFO	infectious disease	glanders
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007286	"A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs." []	1145040	\N	\N	EFO	3	EFO	disease	glanders
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007286	"A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs." []	2027588	\N	\N	EFO	4	EFO	disposition	glanders
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007286	"A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs." []	3179008	\N	\N	EFO	5	EFO	material property	glanders
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007286	"A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs." []	4388534	\N	\N	EFO	6	EFO	experimental factor	glanders
EFO:0007287	\N	\N	"A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." []	EFO:0007287	"A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." []	68535	\N	\N	EFO	0	EFO	glucosephosphate dehydrogenase deficiency	glucosephosphate dehydrogenase deficiency
EFO:1000061	EFO:0007287	\N	"" []	EFO:0007287	"A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." []	210649	\N	\N	EFO	1	EFO	carbohydrate metabolic disorder	glucosephosphate dehydrogenase deficiency
EFO:0000589	EFO:1000061	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0007287	"A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." []	563855	\N	\N	EFO	2	EFO	metabolic disease	glucosephosphate dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007287	"A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." []	1145041	\N	\N	EFO	3	EFO	disease	glucosephosphate dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007287	"A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." []	2027589	\N	\N	EFO	4	EFO	disposition	glucosephosphate dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007287	"A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." []	3179009	\N	\N	EFO	5	EFO	material property	glucosephosphate dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007287	"A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." []	4388535	\N	\N	EFO	6	EFO	experimental factor	glucosephosphate dehydrogenase deficiency
EFO:0007289	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." []	EFO:0007289	"A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." []	68536	\N	\N	EFO	0	EFO	gnathomiasis	gnathomiasis
EFO:0001067	EFO:0007289	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007289	"A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." []	210650	\N	\N	EFO	1	EFO	parasitic infection	gnathomiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007289	"A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." []	563856	\N	\N	EFO	2	EFO	infectious disease	gnathomiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007289	"A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." []	1145042	\N	\N	EFO	3	EFO	disease	gnathomiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007289	"A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." []	2027590	\N	\N	EFO	4	EFO	disposition	gnathomiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007289	"A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." []	3179010	\N	\N	EFO	5	EFO	material property	gnathomiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007289	"A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." []	4388536	\N	\N	EFO	6	EFO	experimental factor	gnathomiasis
EFO:0007290	\N	\N	"A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung." []	EFO:0007290	"A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung." []	68537	\N	\N	EFO	0	EFO	Goodpasture syndrome	Goodpasture syndrome
EFO:0005809	EFO:0007290	\N	"Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." []	EFO:0007290	"A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung." []	210651	\N	\N	EFO	1	EFO	type II hypersensitivity reaction disease	Goodpasture syndrome
EFO:1002003	EFO:0005809	\N	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	EFO:0007290	"A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung." []	563857	\N	\N	EFO	2	EFO	hypersensitivity reaction disease	Goodpasture syndrome
EFO:0000540	EFO:1002003	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007290	"A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung." []	1145043	\N	\N	EFO	3	EFO	immune system disease	Goodpasture syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007290	"A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung." []	2027591	\N	\N	EFO	4	EFO	disease	Goodpasture syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007290	"A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung." []	3179011	\N	\N	EFO	5	EFO	disposition	Goodpasture syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007290	"A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung." []	4388537	\N	\N	EFO	6	EFO	material property	Goodpasture syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007290	"A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung." []	5408923	\N	\N	EFO	7	EFO	experimental factor	Goodpasture syndrome
EFO:0007291	\N	\N	"A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers." []	EFO:0007291	"A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers." []	68538	\N	\N	EFO	0	EFO	granuloma inguinale	granuloma inguinale
EFO:0000771	EFO:0007291	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007291	"A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers." []	210652	\N	\N	EFO	1	EFO	bacterial disease	granuloma inguinale
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007291	"A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers." []	563858	\N	\N	EFO	2	EFO	infectious disease	granuloma inguinale
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007291	"A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers." []	1145044	\N	\N	EFO	3	EFO	disease	granuloma inguinale
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007291	"A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers." []	2027592	\N	\N	EFO	4	EFO	disposition	granuloma inguinale
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007291	"A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers." []	3179012	\N	\N	EFO	5	EFO	material property	granuloma inguinale
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007291	"A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers." []	4388538	\N	\N	EFO	6	EFO	experimental factor	granuloma inguinale
EFO:0007292	\N	\N	"An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." []	EFO:0007292	"An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." []	68539	\N	\N	EFO	0	EFO	Guillain-Barre syndrome	Guillain-Barre syndrome
EFO:0005140	EFO:0007292	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0007292	"An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." []	210653	\N	\N	EFO	1	EFO	autoimmune disease	Guillain-Barre syndrome
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007292	"An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." []	563859	\N	\N	EFO	2	EFO	immune system disease	Guillain-Barre syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007292	"An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." []	1145045	\N	\N	EFO	3	EFO	disease	Guillain-Barre syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007292	"An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." []	2027593	\N	\N	EFO	4	EFO	disposition	Guillain-Barre syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007292	"An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." []	3179013	\N	\N	EFO	5	EFO	material property	Guillain-Barre syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007292	"An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." []	4388539	\N	\N	EFO	6	EFO	experimental factor	Guillain-Barre syndrome
EFO:0007293	\N	\N	"A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." []	EFO:0007293	"A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." []	68540	\N	\N	EFO	0	EFO	haemonchiasis	haemonchiasis
EFO:0001067	EFO:0007293	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007293	"A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." []	210654	\N	\N	EFO	1	EFO	parasitic infection	haemonchiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007293	"A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." []	563860	\N	\N	EFO	2	EFO	infectious disease	haemonchiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007293	"A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." []	1145046	\N	\N	EFO	3	EFO	disease	haemonchiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007293	"A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." []	2027594	\N	\N	EFO	4	EFO	disposition	haemonchiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007293	"A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." []	3179014	\N	\N	EFO	5	EFO	material property	haemonchiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007293	"A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." []	4388540	\N	\N	EFO	6	EFO	experimental factor	haemonchiasis
EFO:0007294	\N	\N	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." []	EFO:0007294	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." []	68541	\N	\N	EFO	0	EFO	hand, foot and mouth disease	hand, foot and mouth disease
EFO:0000701	EFO:0007294	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007294	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." []	210655	\N	\N	EFO	1	EFO	skin disease	hand, foot and mouth disease
EFO:0000763	EFO:0007294	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007294	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." []	210656	\N	\N	EFO	1	EFO	viral disease	hand, foot and mouth disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007294	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." []	563861	\N	\N	EFO	2	EFO	disease	hand, foot and mouth disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007294	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." []	563862	\N	\N	EFO	2	EFO	infectious disease	hand, foot and mouth disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007294	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." []	2027596	\N	\N	EFO	4	EFO	disposition	hand, foot and mouth disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007294	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." []	1145048	\N	\N	EFO	3	EFO	disease	hand, foot and mouth disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007294	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." []	2999864	\N	\N	EFO	5	EFO	material property	hand, foot and mouth disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007294	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." []	4132731	\N	\N	EFO	6	EFO	experimental factor	hand, foot and mouth disease
EFO:0007295	\N	\N	"A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema." []	EFO:0007295	"A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema." []	68542	\N	\N	EFO	0	EFO	Hantavirus infectious disease	Hantavirus infectious disease
EFO:0000763	EFO:0007295	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007295	"A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema." []	210657	\N	\N	EFO	1	EFO	viral disease	Hantavirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007295	"A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema." []	563863	\N	\N	EFO	2	EFO	infectious disease	Hantavirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007295	"A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema." []	1145049	\N	\N	EFO	3	EFO	disease	Hantavirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007295	"A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema." []	2027597	\N	\N	EFO	4	EFO	disposition	Hantavirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007295	"A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema." []	3179016	\N	\N	EFO	5	EFO	material property	Hantavirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007295	"A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema." []	4388541	\N	\N	EFO	6	EFO	experimental factor	Hantavirus infectious disease
EFO:0007296	\N	\N	"A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." []	EFO:0007296	"A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." []	68543	\N	\N	EFO	0	EFO	hantavirus pulmonary syndrome	hantavirus pulmonary syndrome
EFO:0000763	EFO:0007296	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007296	"A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." []	210658	\N	\N	EFO	1	EFO	viral disease	hantavirus pulmonary syndrome
EFO:0003818	EFO:0007296	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007296	"A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." []	210659	\N	\N	EFO	1	EFO	lung disease	hantavirus pulmonary syndrome
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007296	"A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." []	563864	\N	\N	EFO	2	EFO	infectious disease	hantavirus pulmonary syndrome
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007296	"A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." []	563865	\N	\N	EFO	2	EFO	respiratory system disease	hantavirus pulmonary syndrome
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007296	"A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." []	1145050	\N	\N	EFO	3	EFO	disease	hantavirus pulmonary syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007296	"A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." []	1145051	\N	\N	EFO	3	EFO	disease	hantavirus pulmonary syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007296	"A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." []	2027598	\N	\N	EFO	4	EFO	disposition	hantavirus pulmonary syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007296	"A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." []	3179017	\N	\N	EFO	5	EFO	material property	hantavirus pulmonary syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007296	"A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." []	4388542	\N	\N	EFO	6	EFO	experimental factor	hantavirus pulmonary syndrome
EFO:0007297	\N	\N	"A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." []	EFO:0007297	"A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." []	68544	\N	\N	EFO	0	EFO	HELLP syndrome	HELLP syndrome
EFO:0000668	EFO:0007297	\N	"A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." []	EFO:0007297	"A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." []	210660	\N	\N	EFO	1	EFO	preeclampsia	HELLP syndrome
EFO:0000537	EFO:0000668	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:0007297	"A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." []	563866	\N	\N	EFO	2	EFO	hypertension	HELLP syndrome
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007297	"A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." []	1145052	\N	\N	EFO	3	EFO	cardiovascular disease	HELLP syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007297	"A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." []	2027599	\N	\N	EFO	4	EFO	disease	HELLP syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007297	"A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." []	3179018	\N	\N	EFO	5	EFO	disposition	HELLP syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007297	"A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." []	4388543	\N	\N	EFO	6	EFO	material property	HELLP syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007297	"A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." []	5408924	\N	\N	EFO	7	EFO	experimental factor	HELLP syndrome
EFO:0007298	\N	\N	"A pericardial effusion that results from blood in the pericardial sac." []	EFO:0007298	"A pericardial effusion that results from blood in the pericardial sac." []	68545	\N	\N	EFO	0	EFO	hemopericardium	hemopericardium
EFO:0003777	EFO:0007298	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0007298	"A pericardial effusion that results from blood in the pericardial sac." []	210661	\N	\N	EFO	1	EFO	heart disease	hemopericardium
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007298	"A pericardial effusion that results from blood in the pericardial sac." []	563867	\N	\N	EFO	2	EFO	cardiovascular disease	hemopericardium
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007298	"A pericardial effusion that results from blood in the pericardial sac." []	1145053	\N	\N	EFO	3	EFO	disease	hemopericardium
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007298	"A pericardial effusion that results from blood in the pericardial sac." []	2027600	\N	\N	EFO	4	EFO	disposition	hemopericardium
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007298	"A pericardial effusion that results from blood in the pericardial sac." []	3179019	\N	\N	EFO	5	EFO	material property	hemopericardium
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007298	"A pericardial effusion that results from blood in the pericardial sac." []	4388544	\N	\N	EFO	6	EFO	experimental factor	hemopericardium
EFO:0007299	\N	\N	"A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." []	EFO:0007299	"A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." []	68546	\N	\N	EFO	0	EFO	hemorrhagic fever with renal syndrome	hemorrhagic fever with renal syndrome
EFO:0000763	EFO:0007299	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007299	"A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." []	210662	\N	\N	EFO	1	EFO	viral disease	hemorrhagic fever with renal syndrome
EFO:0003086	EFO:0007299	\N	"A disease affecting the kidneys" []	EFO:0007299	"A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." []	210663	\N	\N	EFO	1	EFO	kidney disease	hemorrhagic fever with renal syndrome
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007299	"A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." []	563868	\N	\N	EFO	2	EFO	infectious disease	hemorrhagic fever with renal syndrome
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007299	"A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." []	563869	\N	\N	EFO	2	EFO	disease	hemorrhagic fever with renal syndrome
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007299	"A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." []	1145054	\N	\N	EFO	3	EFO	disease	hemorrhagic fever with renal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007299	"A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." []	2027601	\N	\N	EFO	4	EFO	disposition	hemorrhagic fever with renal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007299	"A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." []	2999865	\N	\N	EFO	5	EFO	material property	hemorrhagic fever with renal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007299	"A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." []	4132732	\N	\N	EFO	6	EFO	experimental factor	hemorrhagic fever with renal syndrome
EFO:0007300	\N	\N	"A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal." []	EFO:0007300	"A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal." []	68547	\N	\N	EFO	0	EFO	Henipavirus infectious disease	Henipavirus infectious disease
EFO:0000763	EFO:0007300	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007300	"A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal." []	210664	\N	\N	EFO	1	EFO	viral disease	Henipavirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007300	"A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal." []	563870	\N	\N	EFO	2	EFO	infectious disease	Henipavirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007300	"A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal." []	1145056	\N	\N	EFO	3	EFO	disease	Henipavirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007300	"A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal." []	2027603	\N	\N	EFO	4	EFO	disposition	Henipavirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007300	"A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal." []	3179021	\N	\N	EFO	5	EFO	material property	Henipavirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007300	"A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal." []	4388545	\N	\N	EFO	6	EFO	experimental factor	Henipavirus infectious disease
EFO:0007301	\N	\N	"A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses." []	EFO:0007301	"A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses." []	68548	\N	\N	EFO	0	EFO	Hepadnaviridae infectious disease	Hepadnaviridae infectious disease
EFO:0000763	EFO:0007301	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007301	"A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses." []	210665	\N	\N	EFO	1	EFO	viral disease	Hepadnaviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007301	"A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses." []	563871	\N	\N	EFO	2	EFO	infectious disease	Hepadnaviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007301	"A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses." []	1145057	\N	\N	EFO	3	EFO	disease	Hepadnaviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007301	"A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses." []	2027604	\N	\N	EFO	4	EFO	disposition	Hepadnaviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007301	"A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses." []	3179022	\N	\N	EFO	5	EFO	material property	Hepadnaviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007301	"A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses." []	4388546	\N	\N	EFO	6	EFO	experimental factor	Hepadnaviridae infectious disease
EFO:0007302	\N	\N	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	68549	\N	\N	EFO	0	EFO	hepatic tuberculosis	hepatic tuberculosis
EFO:0001421	EFO:0007302	\N	"Pathological processes of the LIVER." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	210666	\N	\N	EFO	1	EFO	liver disease	hepatic tuberculosis
EFO:0007280	EFO:0007302	\N	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	210667	\N	\N	EFO	1	EFO	gastrointestinal tuberculosis	hepatic tuberculosis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	563872	\N	\N	EFO	2	EFO	digestive system disease	hepatic tuberculosis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	563873	\N	\N	EFO	2	EFO	endocrine system disease	hepatic tuberculosis
Orphanet:3389	EFO:0007280	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	563874	\N	\N	EFO	2	EFO	Tuberculosis	hepatic tuberculosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	1145058	\N	\N	EFO	3	EFO	disease	hepatic tuberculosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	1145059	\N	\N	EFO	3	EFO	disease	hepatic tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	1145060	\N	\N	EFO	3	EFO	respiratory system disease	hepatic tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	1145061	\N	\N	EFO	3	EFO	bacterial disease	hepatic tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	4388548	\N	\N	EFO	6	EFO	disposition	hepatic tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	2027606	\N	\N	EFO	4	EFO	disease	hepatic tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	2027607	\N	\N	EFO	4	EFO	infectious disease	hepatic tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	5059367	\N	\N	EFO	7	EFO	material property	hepatic tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	3179025	\N	\N	EFO	5	EFO	disease	hepatic tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007302	"A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." []	5876547	\N	\N	EFO	8	EFO	experimental factor	hepatic tuberculosis
EFO:0007303	\N	\N	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." []	EFO:0007303	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." []	68550	\N	\N	EFO	0	EFO	hepatitis E	hepatitis E
EFO:0004196	EFO:0007303	\N	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	EFO:0007303	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." []	210668	\N	\N	EFO	1	EFO	viral human hepatitis infection	hepatitis E
EFO:0000763	EFO:0004196	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007303	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." []	563875	\N	\N	EFO	2	EFO	viral disease	hepatitis E
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007303	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." []	1145062	\N	\N	EFO	3	EFO	infectious disease	hepatitis E
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007303	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." []	2027608	\N	\N	EFO	4	EFO	disease	hepatitis E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007303	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." []	3179026	\N	\N	EFO	5	EFO	disposition	hepatitis E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007303	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." []	4388549	\N	\N	EFO	6	EFO	material property	hepatitis E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007303	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." []	5408925	\N	\N	EFO	7	EFO	experimental factor	hepatitis E
EFO:0007304	\N	\N	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." []	EFO:0007304	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." []	68551	\N	\N	EFO	0	EFO	hepatitis D	hepatitis D
EFO:0004196	EFO:0007304	\N	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	EFO:0007304	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." []	210669	\N	\N	EFO	1	EFO	viral human hepatitis infection	hepatitis D
EFO:0000763	EFO:0004196	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007304	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." []	563876	\N	\N	EFO	2	EFO	viral disease	hepatitis D
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007304	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." []	1145063	\N	\N	EFO	3	EFO	infectious disease	hepatitis D
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007304	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." []	2027609	\N	\N	EFO	4	EFO	disease	hepatitis D
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007304	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." []	3179027	\N	\N	EFO	5	EFO	disposition	hepatitis D
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007304	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." []	4388550	\N	\N	EFO	6	EFO	material property	hepatitis D
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007304	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." []	5408926	\N	\N	EFO	7	EFO	experimental factor	hepatitis D
EFO:0007305	\N	\N	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	EFO:0007305	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	68552	\N	\N	EFO	0	EFO	hepatitis A	hepatitis A
EFO:0004196	EFO:0007305	\N	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	EFO:0007305	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	210670	\N	\N	EFO	1	EFO	viral human hepatitis infection	hepatitis A
EFO:0000763	EFO:0004196	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007305	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	563877	\N	\N	EFO	2	EFO	viral disease	hepatitis A
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007305	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	1145064	\N	\N	EFO	3	EFO	infectious disease	hepatitis A
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007305	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	2027610	\N	\N	EFO	4	EFO	disease	hepatitis A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007305	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	3179028	\N	\N	EFO	5	EFO	disposition	hepatitis A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007305	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	4388551	\N	\N	EFO	6	EFO	material property	hepatitis A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007305	"A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." []	5408927	\N	\N	EFO	7	EFO	experimental factor	hepatitis A
EFO:0007306	\N	\N	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." []	EFO:0007306	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." []	68553	\N	\N	EFO	0	EFO	herpangina	herpangina
EFO:0000524	EFO:0007306	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007306	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." []	210671	\N	\N	EFO	1	EFO	head disease	herpangina
EFO:0000763	EFO:0007306	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007306	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." []	210672	\N	\N	EFO	1	EFO	viral disease	herpangina
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007306	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." []	563878	\N	\N	EFO	2	EFO	disease	herpangina
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007306	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." []	563879	\N	\N	EFO	2	EFO	infectious disease	herpangina
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007306	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." []	2027612	\N	\N	EFO	4	EFO	disposition	herpangina
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007306	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." []	1145066	\N	\N	EFO	3	EFO	disease	herpangina
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007306	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." []	2999866	\N	\N	EFO	5	EFO	material property	herpangina
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007306	"A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." []	4132734	\N	\N	EFO	6	EFO	experimental factor	herpangina
EFO:0007307	\N	\N	"A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever." []	EFO:0007307	"A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever." []	68554	\N	\N	EFO	0	EFO	Herpes simplex virus gingivostomatitis	Herpes simplex virus gingivostomatitis
EFO:0000763	EFO:0007307	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007307	"A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever." []	210673	\N	\N	EFO	1	EFO	viral disease	Herpes simplex virus gingivostomatitis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007307	"A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever." []	563880	\N	\N	EFO	2	EFO	infectious disease	Herpes simplex virus gingivostomatitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007307	"A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever." []	1145067	\N	\N	EFO	3	EFO	disease	Herpes simplex virus gingivostomatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007307	"A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever." []	2027613	\N	\N	EFO	4	EFO	disposition	Herpes simplex virus gingivostomatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007307	"A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever." []	3179030	\N	\N	EFO	5	EFO	material property	Herpes simplex virus gingivostomatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007307	"A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever." []	4388552	\N	\N	EFO	6	EFO	experimental factor	Herpes simplex virus gingivostomatitis
EFO:0007308	\N	\N	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	EFO:0007308	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	68555	\N	\N	EFO	0	EFO	Herpes simplex virus keratitis	Herpes simplex virus keratitis
EFO:0000524	EFO:0007308	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007308	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	210674	\N	\N	EFO	1	EFO	head disease	Herpes simplex virus keratitis
EFO:0000763	EFO:0007308	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007308	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	210675	\N	\N	EFO	1	EFO	viral disease	Herpes simplex virus keratitis
EFO:0003966	EFO:0007308	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0007308	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	210676	\N	\N	EFO	1	EFO	eye disease	Herpes simplex virus keratitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007308	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	563881	\N	\N	EFO	2	EFO	disease	Herpes simplex virus keratitis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007308	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	563882	\N	\N	EFO	2	EFO	infectious disease	Herpes simplex virus keratitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007308	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	563883	\N	\N	EFO	2	EFO	disease	Herpes simplex virus keratitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007308	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	2027615	\N	\N	EFO	4	EFO	disposition	Herpes simplex virus keratitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007308	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	1145069	\N	\N	EFO	3	EFO	disease	Herpes simplex virus keratitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007308	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	2999867	\N	\N	EFO	5	EFO	material property	Herpes simplex virus keratitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007308	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	4132735	\N	\N	EFO	6	EFO	experimental factor	Herpes simplex virus keratitis
EFO:0007309	\N	\N	"A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses." []	EFO:0007309	"A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses." []	68556	\N	\N	EFO	0	EFO	Herpesviridae infectious disease	Herpesviridae infectious disease
EFO:0000763	EFO:0007309	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007309	"A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses." []	210677	\N	\N	EFO	1	EFO	viral disease	Herpesviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007309	"A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses." []	563884	\N	\N	EFO	2	EFO	infectious disease	Herpesviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007309	"A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses." []	1145070	\N	\N	EFO	3	EFO	disease	Herpesviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007309	"A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses." []	2027616	\N	\N	EFO	4	EFO	disposition	Herpesviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007309	"A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses." []	3179032	\N	\N	EFO	5	EFO	material property	Herpesviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007309	"A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses." []	4388553	\N	\N	EFO	6	EFO	experimental factor	Herpesviridae infectious disease
EFO:0007310	\N	\N	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains." []	EFO:0007310	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains." []	68557	\N	\N	EFO	0	EFO	histoplasmosis	histoplasmosis
EFO:0005741	EFO:0007310	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007310	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains." []	210678	\N	\N	EFO	1	EFO	infectious disease	histoplasmosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007310	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains." []	563885	\N	\N	EFO	2	EFO	disease	histoplasmosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007310	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains." []	1145071	\N	\N	EFO	3	EFO	disposition	histoplasmosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007310	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains." []	2027617	\N	\N	EFO	4	EFO	material property	histoplasmosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007310	"A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains." []	3179033	\N	\N	EFO	5	EFO	experimental factor	histoplasmosis
EFO:0007311	\N	\N	"A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12." []	EFO:0007311	"A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12." []	68558	\N	\N	EFO	0	EFO	HIV enteropathy	HIV enteropathy
EFO:0000764	EFO:0007311	\N	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	EFO:0007311	"A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12." []	210679	\N	\N	EFO	1	EFO	HIV infection	HIV enteropathy
EFO:0000763	EFO:0000764	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007311	"A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12." []	563886	\N	\N	EFO	2	EFO	viral disease	HIV enteropathy
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007311	"A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12." []	1145072	\N	\N	EFO	3	EFO	infectious disease	HIV enteropathy
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007311	"A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12." []	2027618	\N	\N	EFO	4	EFO	disease	HIV enteropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007311	"A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12." []	3179034	\N	\N	EFO	5	EFO	disposition	HIV enteropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007311	"A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12." []	4388554	\N	\N	EFO	6	EFO	material property	HIV enteropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007311	"A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12." []	5408928	\N	\N	EFO	7	EFO	experimental factor	HIV enteropathy
EFO:0007312	\N	\N	"An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	EFO:0007312	"An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	68559	\N	\N	EFO	0	EFO	HIV wasting syndrome	HIV wasting syndrome
EFO:0000764	EFO:0007312	\N	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	EFO:0007312	"An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	210680	\N	\N	EFO	1	EFO	HIV infection	HIV wasting syndrome
EFO:0000763	EFO:0000764	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007312	"An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	563887	\N	\N	EFO	2	EFO	viral disease	HIV wasting syndrome
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007312	"An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	1145073	\N	\N	EFO	3	EFO	infectious disease	HIV wasting syndrome
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007312	"An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	2027619	\N	\N	EFO	4	EFO	disease	HIV wasting syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007312	"An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	3179035	\N	\N	EFO	5	EFO	disposition	HIV wasting syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007312	"An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	4388555	\N	\N	EFO	6	EFO	material property	HIV wasting syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007312	"An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." []	5408929	\N	\N	EFO	7	EFO	experimental factor	HIV wasting syndrome
EFO:0007313	\N	\N	"A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." []	EFO:0007313	"A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." []	68560	\N	\N	EFO	0	EFO	HIV-associated nephropathy	HIV-associated nephropathy
EFO:0000763	EFO:0007313	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007313	"A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." []	210681	\N	\N	EFO	1	EFO	viral disease	HIV-associated nephropathy
EFO:0003086	EFO:0007313	\N	"A disease affecting the kidneys" []	EFO:0007313	"A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." []	210682	\N	\N	EFO	1	EFO	kidney disease	HIV-associated nephropathy
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007313	"A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." []	563888	\N	\N	EFO	2	EFO	infectious disease	HIV-associated nephropathy
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007313	"A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." []	563889	\N	\N	EFO	2	EFO	disease	HIV-associated nephropathy
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007313	"A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." []	1145074	\N	\N	EFO	3	EFO	disease	HIV-associated nephropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007313	"A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." []	2027620	\N	\N	EFO	4	EFO	disposition	HIV-associated nephropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007313	"A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." []	2999868	\N	\N	EFO	5	EFO	material property	HIV-associated nephropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007313	"A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." []	4132736	\N	\N	EFO	6	EFO	experimental factor	HIV-associated nephropathy
EFO:0007314	\N	\N	"A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria." []	EFO:0007314	"A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria." []	68561	\N	\N	EFO	0	EFO	hookworm infectious disease	hookworm infectious disease
EFO:0005741	EFO:0007314	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007314	"A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria." []	210683	\N	\N	EFO	1	EFO	infectious disease	hookworm infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007314	"A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria." []	563890	\N	\N	EFO	2	EFO	disease	hookworm infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007314	"A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria." []	1145076	\N	\N	EFO	3	EFO	disposition	hookworm infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007314	"A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria." []	2027622	\N	\N	EFO	4	EFO	material property	hookworm infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007314	"A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria." []	3179037	\N	\N	EFO	5	EFO	experimental factor	hookworm infectious disease
EFO:0007315	\N	\N	"Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection." []	EFO:0007315	"Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection." []	68562	\N	\N	EFO	0	EFO	hordeolum	hordeolum
EFO:0003966	EFO:0007315	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0007315	"Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection." []	210684	\N	\N	EFO	1	EFO	eye disease	hordeolum
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007315	"Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection." []	563891	\N	\N	EFO	2	EFO	disease	hordeolum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007315	"Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection." []	1145077	\N	\N	EFO	3	EFO	disposition	hordeolum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007315	"Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection." []	2027623	\N	\N	EFO	4	EFO	material property	hordeolum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007315	"Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection." []	3179038	\N	\N	EFO	5	EFO	experimental factor	hordeolum
EFO:0007316	\N	\N	"A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." []	EFO:0007316	"A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." []	68563	\N	\N	EFO	0	EFO	Human T-lymphotropic virus 1 infectious disease	Human T-lymphotropic virus 1 infectious disease
EFO:0000763	EFO:0007316	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007316	"A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." []	210685	\N	\N	EFO	1	EFO	viral disease	Human T-lymphotropic virus 1 infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007316	"A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." []	563892	\N	\N	EFO	2	EFO	infectious disease	Human T-lymphotropic virus 1 infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007316	"A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." []	1145078	\N	\N	EFO	3	EFO	disease	Human T-lymphotropic virus 1 infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007316	"A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." []	2027624	\N	\N	EFO	4	EFO	disposition	Human T-lymphotropic virus 1 infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007316	"A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." []	3179039	\N	\N	EFO	5	EFO	material property	Human T-lymphotropic virus 1 infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007316	"A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." []	4388556	\N	\N	EFO	6	EFO	experimental factor	Human T-lymphotropic virus 1 infectious disease
EFO:0007317	\N	\N	"A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." []	EFO:0007317	"A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." []	68564	\N	\N	EFO	0	EFO	hymenolepiasis	hymenolepiasis
EFO:0000405	EFO:0007317	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007317	"A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." []	210686	\N	\N	EFO	1	EFO	digestive system disease	hymenolepiasis
EFO:0001067	EFO:0007317	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007317	"A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." []	210687	\N	\N	EFO	1	EFO	parasitic infection	hymenolepiasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007317	"A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." []	563893	\N	\N	EFO	2	EFO	disease	hymenolepiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007317	"A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." []	563894	\N	\N	EFO	2	EFO	infectious disease	hymenolepiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007317	"A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." []	2027626	\N	\N	EFO	4	EFO	disposition	hymenolepiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007317	"A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." []	1145080	\N	\N	EFO	3	EFO	disease	hymenolepiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007317	"A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." []	2999869	\N	\N	EFO	5	EFO	material property	hymenolepiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007317	"A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." []	4132737	\N	\N	EFO	6	EFO	experimental factor	hymenolepiasis
EFO:0007318	\N	\N	"A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." []	EFO:0007318	"A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." []	68565	\N	\N	EFO	0	EFO	hyperinsulinemic hypoglycemia	hyperinsulinemic hypoglycemia
EFO:1000061	EFO:0007318	\N	"" []	EFO:0007318	"A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." []	210688	\N	\N	EFO	1	EFO	carbohydrate metabolic disorder	hyperinsulinemic hypoglycemia
EFO:0000589	EFO:1000061	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0007318	"A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." []	563895	\N	\N	EFO	2	EFO	metabolic disease	hyperinsulinemic hypoglycemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007318	"A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." []	1145081	\N	\N	EFO	3	EFO	disease	hyperinsulinemic hypoglycemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007318	"A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." []	2027627	\N	\N	EFO	4	EFO	disposition	hyperinsulinemic hypoglycemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007318	"A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." []	3179041	\N	\N	EFO	5	EFO	material property	hyperinsulinemic hypoglycemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007318	"A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." []	4388557	\N	\N	EFO	6	EFO	experimental factor	hyperinsulinemic hypoglycemia
EFO:0007319	\N	\N	"An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." []	EFO:0007319	"An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." []	68566	\N	\N	EFO	0	EFO	hyperprolactinemia	hyperprolactinemia
EFO:0000319	EFO:0007319	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007319	"An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." []	210689	\N	\N	EFO	1	EFO	cardiovascular disease	hyperprolactinemia
EFO:0000589	EFO:0007319	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0007319	"An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." []	210690	\N	\N	EFO	1	EFO	metabolic disease	hyperprolactinemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007319	"An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." []	563896	\N	\N	EFO	2	EFO	disease	hyperprolactinemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007319	"An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." []	563897	\N	\N	EFO	2	EFO	disease	hyperprolactinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007319	"An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." []	1145082	\N	\N	EFO	3	EFO	disposition	hyperprolactinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007319	"An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." []	2027628	\N	\N	EFO	4	EFO	material property	hyperprolactinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007319	"An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." []	3179042	\N	\N	EFO	5	EFO	experimental factor	hyperprolactinemia
EFO:0007320	\N	\N	"A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful." []	EFO:0007320	"A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful." []	68567	\N	\N	EFO	0	EFO	hypodermyiasis	hypodermyiasis
EFO:0001067	EFO:0007320	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007320	"A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful." []	210691	\N	\N	EFO	1	EFO	parasitic infection	hypodermyiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007320	"A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful." []	563898	\N	\N	EFO	2	EFO	infectious disease	hypodermyiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007320	"A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful." []	1145083	\N	\N	EFO	3	EFO	disease	hypodermyiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007320	"A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful." []	2027629	\N	\N	EFO	4	EFO	disposition	hypodermyiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007320	"A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful." []	3179043	\N	\N	EFO	5	EFO	material property	hypodermyiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007320	"A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful." []	4388558	\N	\N	EFO	6	EFO	experimental factor	hypodermyiasis
EFO:0007321	\N	\N	"A pharynx cancer that is located_in the hypopharynx." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	68568	\N	\N	EFO	0	EFO	hypopharynx cancer	hypopharynx cancer
EFO:0005577	EFO:0007321	\N	"A primary or metastatic malignant neoplasm that affects the pharynx." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	210692	\N	\N	EFO	1	EFO	pharynx cancer	hypopharynx cancer
EFO:0000311	EFO:0005577	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	563899	\N	\N	EFO	2	EFO	cancer	hypopharynx cancer
EFO:0000405	EFO:0005577	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	563900	\N	\N	EFO	2	EFO	digestive system disease	hypopharynx cancer
EFO:0003853	EFO:0005577	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	563901	\N	\N	EFO	2	EFO	respiratory system neoplasm	hypopharynx cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	1145084	\N	\N	EFO	3	EFO	neoplasm	hypopharynx cancer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	1145085	\N	\N	EFO	3	EFO	disease	hypopharynx cancer
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	1145086	\N	\N	EFO	3	EFO	neoplasm	hypopharynx cancer
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	1145087	\N	\N	EFO	3	EFO	respiratory system disease	hypopharynx cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	2027630	\N	\N	EFO	4	EFO	disease	hypopharynx cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	3179044	\N	\N	EFO	5	EFO	disposition	hypopharynx cancer
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	2027632	\N	\N	EFO	4	EFO	disease	hypopharynx cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	4132738	\N	\N	EFO	6	EFO	material property	hypopharynx cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007321	"A pharynx cancer that is located_in the hypopharynx." []	5181042	\N	\N	EFO	7	EFO	experimental factor	hypopharynx cancer
EFO:0007322	\N	\N	"A lymphopenia that is caused by a reduction of CD4+ T lymphocytes." []	EFO:0007322	"A lymphopenia that is caused by a reduction of CD4+ T lymphocytes." []	68569	\N	\N	EFO	0	EFO	idiopathic CD4-positive T-lymphocytopenia	idiopathic CD4-positive T-lymphocytopenia
EFO:0000540	EFO:0007322	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007322	"A lymphopenia that is caused by a reduction of CD4+ T lymphocytes." []	210693	\N	\N	EFO	1	EFO	immune system disease	idiopathic CD4-positive T-lymphocytopenia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007322	"A lymphopenia that is caused by a reduction of CD4+ T lymphocytes." []	563902	\N	\N	EFO	2	EFO	disease	idiopathic CD4-positive T-lymphocytopenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007322	"A lymphopenia that is caused by a reduction of CD4+ T lymphocytes." []	1145088	\N	\N	EFO	3	EFO	disposition	idiopathic CD4-positive T-lymphocytopenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007322	"A lymphopenia that is caused by a reduction of CD4+ T lymphocytes." []	2027633	\N	\N	EFO	4	EFO	material property	idiopathic CD4-positive T-lymphocytopenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007322	"A lymphopenia that is caused by a reduction of CD4+ T lymphocytes." []	3179046	\N	\N	EFO	5	EFO	experimental factor	idiopathic CD4-positive T-lymphocytopenia
EFO:0007323	\N	\N	"A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms." []	EFO:0007323	"A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms." []	68570	\N	\N	EFO	0	EFO	inclusion body myositis	inclusion body myositis
EFO:0000783	EFO:0007323	\N	"Inflammation of a muscle or muscle tissue." []	EFO:0007323	"A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms." []	210694	\N	\N	EFO	1	EFO	myositis	inclusion body myositis
EFO:0000540	EFO:0000783	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007323	"A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms." []	563903	\N	\N	EFO	2	EFO	immune system disease	inclusion body myositis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007323	"A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms." []	1145089	\N	\N	EFO	3	EFO	disease	inclusion body myositis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007323	"A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms." []	2027634	\N	\N	EFO	4	EFO	disposition	inclusion body myositis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007323	"A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms." []	3179047	\N	\N	EFO	5	EFO	material property	inclusion body myositis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007323	"A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms." []	4388560	\N	\N	EFO	6	EFO	experimental factor	inclusion body myositis
EFO:0007324	\N	\N	"A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." []	EFO:0007324	"A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." []	68571	\N	\N	EFO	0	EFO	inclusion conjunctivitis	inclusion conjunctivitis
EFO:0000771	EFO:0007324	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007324	"A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." []	210695	\N	\N	EFO	1	EFO	bacterial disease	inclusion conjunctivitis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007324	"A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." []	563904	\N	\N	EFO	2	EFO	infectious disease	inclusion conjunctivitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007324	"A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." []	1145090	\N	\N	EFO	3	EFO	disease	inclusion conjunctivitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007324	"A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." []	2027635	\N	\N	EFO	4	EFO	disposition	inclusion conjunctivitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007324	"A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." []	3179048	\N	\N	EFO	5	EFO	material property	inclusion conjunctivitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007324	"A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." []	4388561	\N	\N	EFO	6	EFO	experimental factor	inclusion conjunctivitis
EFO:0007325	\N	\N	"A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." []	EFO:0007325	"A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." []	68572	\N	\N	EFO	0	EFO	infectious ectromelia	infectious ectromelia
EFO:0000701	EFO:0007325	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007325	"A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." []	210696	\N	\N	EFO	1	EFO	skin disease	infectious ectromelia
EFO:0005932	EFO:0007325	\N	"A disease that occurs in animals." []	EFO:0007325	"A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." []	210697	\N	\N	EFO	1	EFO	animal disease	infectious ectromelia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007325	"A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." []	563905	\N	\N	EFO	2	EFO	disease	infectious ectromelia
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007325	"A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." []	563906	\N	\N	EFO	2	EFO	disease	infectious ectromelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007325	"A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." []	1145091	\N	\N	EFO	3	EFO	disposition	infectious ectromelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007325	"A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." []	2027636	\N	\N	EFO	4	EFO	material property	infectious ectromelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007325	"A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." []	3179049	\N	\N	EFO	5	EFO	experimental factor	infectious ectromelia
EFO:0007326	\N	\N	"A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." []	EFO:0007326	"A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." []	68573	\N	\N	EFO	0	EFO	infectious mononucleosis	infectious mononucleosis
EFO:0000405	EFO:0007326	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007326	"A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." []	210698	\N	\N	EFO	1	EFO	digestive system disease	infectious mononucleosis
EFO:0000684	EFO:0007326	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007326	"A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." []	210699	\N	\N	EFO	1	EFO	respiratory system disease	infectious mononucleosis
EFO:0000763	EFO:0007326	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007326	"A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." []	210700	\N	\N	EFO	1	EFO	viral disease	infectious mononucleosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007326	"A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." []	563907	\N	\N	EFO	2	EFO	disease	infectious mononucleosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007326	"A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." []	563908	\N	\N	EFO	2	EFO	disease	infectious mononucleosis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007326	"A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." []	563909	\N	\N	EFO	2	EFO	infectious disease	infectious mononucleosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007326	"A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." []	2027638	\N	\N	EFO	4	EFO	disposition	infectious mononucleosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007326	"A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." []	1145093	\N	\N	EFO	3	EFO	disease	infectious mononucleosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007326	"A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." []	2999870	\N	\N	EFO	5	EFO	material property	infectious mononucleosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007326	"A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." []	4132739	\N	\N	EFO	6	EFO	experimental factor	infectious mononucleosis
EFO:0007327	\N	\N	"A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties." []	EFO:0007327	"A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties." []	68574	\N	\N	EFO	0	EFO	infectious myxomatosis	infectious myxomatosis
EFO:0005932	EFO:0007327	\N	"A disease that occurs in animals." []	EFO:0007327	"A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties." []	210701	\N	\N	EFO	1	EFO	animal disease	infectious myxomatosis
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007327	"A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties." []	563910	\N	\N	EFO	2	EFO	disease	infectious myxomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007327	"A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties." []	1145094	\N	\N	EFO	3	EFO	disposition	infectious myxomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007327	"A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties." []	2027639	\N	\N	EFO	4	EFO	material property	infectious myxomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007327	"A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties." []	3179051	\N	\N	EFO	5	EFO	experimental factor	infectious myxomatosis
EFO:0007328	\N	\N	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	EFO:0007328	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	68575	\N	\N	EFO	0	EFO	influenza	influenza
EFO:0000684	EFO:0007328	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007328	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	210702	\N	\N	EFO	1	EFO	respiratory system disease	influenza
EFO:0000763	EFO:0007328	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007328	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	210703	\N	\N	EFO	1	EFO	viral disease	influenza
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007328	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	563911	\N	\N	EFO	2	EFO	disease	influenza
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007328	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	563912	\N	\N	EFO	2	EFO	infectious disease	influenza
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007328	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	2027641	\N	\N	EFO	4	EFO	disposition	influenza
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007328	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	1145096	\N	\N	EFO	3	EFO	disease	influenza
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007328	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	2999871	\N	\N	EFO	5	EFO	material property	influenza
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007328	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	4132740	\N	\N	EFO	6	EFO	experimental factor	influenza
EFO:0007329	\N	\N	"A histiocytic and dendritic cell cancer that effect dendritic cells." []	EFO:0007329	"A histiocytic and dendritic cell cancer that effect dendritic cells." []	68576	\N	\N	EFO	0	EFO	interdigitating dendritic cell sarcoma	interdigitating dendritic cell sarcoma
EFO:0000691	EFO:0007329	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0007329	"A histiocytic and dendritic cell cancer that effect dendritic cells." []	210704	\N	\N	EFO	1	EFO	sarcoma	interdigitating dendritic cell sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007329	"A histiocytic and dendritic cell cancer that effect dendritic cells." []	563913	\N	\N	EFO	2	EFO	cancer	interdigitating dendritic cell sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007329	"A histiocytic and dendritic cell cancer that effect dendritic cells." []	1145097	\N	\N	EFO	3	EFO	neoplasm	interdigitating dendritic cell sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007329	"A histiocytic and dendritic cell cancer that effect dendritic cells." []	2027642	\N	\N	EFO	4	EFO	disease	interdigitating dendritic cell sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007329	"A histiocytic and dendritic cell cancer that effect dendritic cells." []	3179053	\N	\N	EFO	5	EFO	disposition	interdigitating dendritic cell sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007329	"A histiocytic and dendritic cell cancer that effect dendritic cells." []	4388562	\N	\N	EFO	6	EFO	material property	interdigitating dendritic cell sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007329	"A histiocytic and dendritic cell cancer that effect dendritic cells." []	5408930	\N	\N	EFO	7	EFO	experimental factor	interdigitating dendritic cell sarcoma
EFO:0007330	\N	\N	"A gastrointestinal system cancer that is located_in the intestine." []	EFO:0007330	"A gastrointestinal system cancer that is located_in the intestine." []	68577	\N	\N	EFO	0	EFO	intestinal cancer	intestinal cancer
EFO:0000313	EFO:0007330	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007330	"A gastrointestinal system cancer that is located_in the intestine." []	210705	\N	\N	EFO	1	EFO	carcinoma	intestinal cancer
EFO:0000405	EFO:0007330	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007330	"A gastrointestinal system cancer that is located_in the intestine." []	210706	\N	\N	EFO	1	EFO	digestive system disease	intestinal cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007330	"A gastrointestinal system cancer that is located_in the intestine." []	563914	\N	\N	EFO	2	EFO	cancer	intestinal cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007330	"A gastrointestinal system cancer that is located_in the intestine." []	563915	\N	\N	EFO	2	EFO	epithelial neoplasm	intestinal cancer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007330	"A gastrointestinal system cancer that is located_in the intestine." []	563916	\N	\N	EFO	2	EFO	disease	intestinal cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007330	"A gastrointestinal system cancer that is located_in the intestine." []	1145098	\N	\N	EFO	3	EFO	neoplasm	intestinal cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007330	"A gastrointestinal system cancer that is located_in the intestine." []	1145099	\N	\N	EFO	3	EFO	neoplasm	intestinal cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007330	"A gastrointestinal system cancer that is located_in the intestine." []	3179054	\N	\N	EFO	5	EFO	disposition	intestinal cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007330	"A gastrointestinal system cancer that is located_in the intestine." []	2027643	\N	\N	EFO	4	EFO	disease	intestinal cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007330	"A gastrointestinal system cancer that is located_in the intestine." []	4066725	\N	\N	EFO	6	EFO	material property	intestinal cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007330	"A gastrointestinal system cancer that is located_in the intestine." []	5059368	\N	\N	EFO	7	EFO	experimental factor	intestinal cancer
EFO:0007331	\N	\N	"A pancreatic cancer that is located_in the pancreatic islet cells." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	68578	\N	\N	EFO	0	EFO	islet cell tumor	islet cell tumor
EFO:0002618	EFO:0007331	\N	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	210707	\N	\N	EFO	1	EFO	pancreatic carcinoma	islet cell tumor
EFO:0000313	EFO:0002618	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	563917	\N	\N	EFO	2	EFO	carcinoma	islet cell tumor
EFO:0003860	EFO:0002618	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	563918	\N	\N	EFO	2	EFO	pancreatic neoplasm	islet cell tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	1145101	\N	\N	EFO	3	EFO	cancer	islet cell tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	1145102	\N	\N	EFO	3	EFO	epithelial neoplasm	islet cell tumor
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	1145103	\N	\N	EFO	3	EFO	endocrine neoplasm	islet cell tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	2027645	\N	\N	EFO	4	EFO	neoplasm	islet cell tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	2027646	\N	\N	EFO	4	EFO	neoplasm	islet cell tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	2027647	\N	\N	EFO	4	EFO	neoplasm	islet cell tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	2027648	\N	\N	EFO	4	EFO	endocrine system disease	islet cell tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	3179056	\N	\N	EFO	5	EFO	disease	islet cell tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	3179057	\N	\N	EFO	5	EFO	disease	islet cell tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	4388563	\N	\N	EFO	6	EFO	disposition	islet cell tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	5408931	\N	\N	EFO	7	EFO	material property	islet cell tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007331	"A pancreatic cancer that is located_in the pancreatic islet cells." []	6147529	\N	\N	EFO	8	EFO	experimental factor	islet cell tumor
EFO:0007332	\N	\N	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." []	EFO:0007332	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." []	68579	\N	\N	EFO	0	EFO	Japanese encephalitis	Japanese encephalitis
EFO:0001423	EFO:0007332	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:0007332	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." []	210708	\N	\N	EFO	1	EFO	encephalomyelitis	Japanese encephalitis
EFO:0005774	EFO:0007332	\N	"A disease affecting the brain or part of the brain." []	EFO:0007332	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." []	210709	\N	\N	EFO	1	EFO	brain disease	Japanese encephalitis
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:0007332	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." []	563919	\N	\N	EFO	2	EFO	central nervous system infection	Japanese encephalitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007332	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." []	563920	\N	\N	EFO	2	EFO	nervous system disease	Japanese encephalitis
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007332	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." []	1145104	\N	\N	EFO	3	EFO	nervous system disease	Japanese encephalitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007332	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." []	2027649	\N	\N	EFO	4	EFO	disease	Japanese encephalitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007332	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." []	2999872	\N	\N	EFO	5	EFO	disposition	Japanese encephalitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007332	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." []	4132741	\N	\N	EFO	6	EFO	material property	Japanese encephalitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007332	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." []	5181043	\N	\N	EFO	7	EFO	experimental factor	Japanese encephalitis
EFO:0007333	\N	\N	"A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone." []	EFO:0007333	"A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone." []	68580	\N	\N	EFO	0	EFO	jaw cancer	jaw cancer
EFO:0003820	EFO:0007333	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:0007333	"A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone." []	210710	\N	\N	EFO	1	EFO	bone neoplasm	jaw cancer
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007333	"A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone." []	563921	\N	\N	EFO	2	EFO	neoplasm	jaw cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007333	"A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone." []	1145106	\N	\N	EFO	3	EFO	disease	jaw cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007333	"A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone." []	2027651	\N	\N	EFO	4	EFO	disposition	jaw cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007333	"A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone." []	3179059	\N	\N	EFO	5	EFO	material property	jaw cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007333	"A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone." []	4388565	\N	\N	EFO	6	EFO	experimental factor	jaw cancer
EFO:0007334	\N	\N	"A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues." []	EFO:0007334	"A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues." []	68581	\N	\N	EFO	0	EFO	Klippel-Trenaunay syndrome	Klippel-Trenaunay syndrome
EFO:0000508	EFO:0007334	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:0007334	"A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues." []	210711	\N	\N	EFO	1	EFO	genetic disorder	Klippel-Trenaunay syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007334	"A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues." []	563922	\N	\N	EFO	2	EFO	disease	Klippel-Trenaunay syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007334	"A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues." []	1145107	\N	\N	EFO	3	EFO	disposition	Klippel-Trenaunay syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007334	"A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues." []	2027652	\N	\N	EFO	4	EFO	material property	Klippel-Trenaunay syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007334	"A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues." []	3179060	\N	\N	EFO	5	EFO	experimental factor	Klippel-Trenaunay syndrome
EFO:0007335	\N	\N	"An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." []	EFO:0007335	"An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." []	68582	\N	\N	EFO	0	EFO	Kluver-Bucy syndrome	Kluver-Bucy syndrome
EFO:0000677	EFO:0007335	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0007335	"An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." []	210712	\N	\N	EFO	1	EFO	mental or behavioural disorder	Kluver-Bucy syndrome
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0007335	"An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." []	563923	\N	\N	EFO	2	EFO	brain disease	Kluver-Bucy syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007335	"An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." []	1145108	\N	\N	EFO	3	EFO	nervous system disease	Kluver-Bucy syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007335	"An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." []	2027653	\N	\N	EFO	4	EFO	disease	Kluver-Bucy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007335	"An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." []	3179061	\N	\N	EFO	5	EFO	disposition	Kluver-Bucy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007335	"An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." []	4388566	\N	\N	EFO	6	EFO	material property	Kluver-Bucy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007335	"An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." []	5408932	\N	\N	EFO	7	EFO	experimental factor	Kluver-Bucy syndrome
EFO:0007336	\N	\N	"A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones." []	EFO:0007336	"A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones." []	68583	\N	\N	EFO	0	EFO	Langerhans cell sarcoma	Langerhans cell sarcoma
EFO:0000691	EFO:0007336	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:0007336	"A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones." []	210713	\N	\N	EFO	1	EFO	sarcoma	Langerhans cell sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007336	"A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones." []	563924	\N	\N	EFO	2	EFO	cancer	Langerhans cell sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007336	"A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones." []	1145109	\N	\N	EFO	3	EFO	neoplasm	Langerhans cell sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007336	"A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones." []	2027654	\N	\N	EFO	4	EFO	disease	Langerhans cell sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007336	"A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones." []	3179062	\N	\N	EFO	5	EFO	disposition	Langerhans cell sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007336	"A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones." []	4388567	\N	\N	EFO	6	EFO	material property	Langerhans cell sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007336	"A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones." []	5408933	\N	\N	EFO	7	EFO	experimental factor	Langerhans cell sarcoma
EFO:0007337	\N	\N	"A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." []	EFO:0007337	"A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." []	68584	\N	\N	EFO	0	EFO	laryngeal tuberculosis	laryngeal tuberculosis
Orphanet:3389	EFO:0007337	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007337	"A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." []	210714	\N	\N	EFO	1	EFO	Tuberculosis	laryngeal tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007337	"A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." []	563925	\N	\N	EFO	2	EFO	respiratory system disease	laryngeal tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007337	"A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." []	563926	\N	\N	EFO	2	EFO	bacterial disease	laryngeal tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007337	"A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." []	1145110	\N	\N	EFO	3	EFO	disease	laryngeal tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007337	"A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." []	1145111	\N	\N	EFO	3	EFO	infectious disease	laryngeal tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007337	"A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." []	3179064	\N	\N	EFO	5	EFO	disposition	laryngeal tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007337	"A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." []	2027656	\N	\N	EFO	4	EFO	disease	laryngeal tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007337	"A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." []	4132742	\N	\N	EFO	6	EFO	material property	laryngeal tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007337	"A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." []	5181044	\N	\N	EFO	7	EFO	experimental factor	laryngeal tuberculosis
EFO:0007338	\N	\N	"A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding." []	EFO:0007338	"A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding." []	68585	\N	\N	EFO	0	EFO	Lassa fever	Lassa fever
EFO:0000763	EFO:0007338	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007338	"A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding." []	210715	\N	\N	EFO	1	EFO	viral disease	Lassa fever
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007338	"A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding." []	563927	\N	\N	EFO	2	EFO	infectious disease	Lassa fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007338	"A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding." []	1145112	\N	\N	EFO	3	EFO	disease	Lassa fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007338	"A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding." []	2027657	\N	\N	EFO	4	EFO	disposition	Lassa fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007338	"A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding." []	3179065	\N	\N	EFO	5	EFO	material property	Lassa fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007338	"A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding." []	4388569	\N	\N	EFO	6	EFO	experimental factor	Lassa fever
EFO:0007339	\N	\N	"A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." []	EFO:0007339	"A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." []	68586	\N	\N	EFO	0	EFO	late congenital syphilis	late congenital syphilis
EFO:0007219	EFO:0007339	\N	"A syphilis that results_in a multisystem infection in the fetus via the placenta." []	EFO:0007339	"A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." []	210716	\N	\N	EFO	1	EFO	congenital syphilis	late congenital syphilis
EFO:0007504	EFO:0007219	\N	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	EFO:0007339	"A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." []	563928	\N	\N	EFO	2	EFO	syphilis	late congenital syphilis
EFO:0000771	EFO:0007504	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007339	"A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." []	1145113	\N	\N	EFO	3	EFO	bacterial disease	late congenital syphilis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007339	"A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." []	2027658	\N	\N	EFO	4	EFO	infectious disease	late congenital syphilis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007339	"A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." []	3179066	\N	\N	EFO	5	EFO	disease	late congenital syphilis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007339	"A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." []	4388570	\N	\N	EFO	6	EFO	disposition	late congenital syphilis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007339	"A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." []	5408934	\N	\N	EFO	7	EFO	material property	late congenital syphilis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007339	"A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." []	6147530	\N	\N	EFO	8	EFO	experimental factor	late congenital syphilis
EFO:0007340	\N	\N	"A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease." []	EFO:0007340	"A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease." []	68587	\N	\N	EFO	0	EFO	latent syphilis	latent syphilis
EFO:0007504	EFO:0007340	\N	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	EFO:0007340	"A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease." []	210717	\N	\N	EFO	1	EFO	syphilis	latent syphilis
EFO:0000771	EFO:0007504	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007340	"A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease." []	563929	\N	\N	EFO	2	EFO	bacterial disease	latent syphilis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007340	"A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease." []	1145114	\N	\N	EFO	3	EFO	infectious disease	latent syphilis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007340	"A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease." []	2027659	\N	\N	EFO	4	EFO	disease	latent syphilis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007340	"A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease." []	3179067	\N	\N	EFO	5	EFO	disposition	latent syphilis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007340	"A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease." []	4388571	\N	\N	EFO	6	EFO	material property	latent syphilis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007340	"A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease." []	5408935	\N	\N	EFO	7	EFO	experimental factor	latent syphilis
EFO:0007341	\N	\N	"An osteochondrosis that results_in death and fracture located_in hip joint." []	EFO:0007341	"An osteochondrosis that results_in death and fracture located_in hip joint." []	68588	\N	\N	EFO	0	EFO	Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease
EFO:0004260	EFO:0007341	\N	"Diseases of BONES." []	EFO:0007341	"An osteochondrosis that results_in death and fracture located_in hip joint." []	210718	\N	\N	EFO	1	EFO	bone disease	Legg-Calve-Perthes Disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0007341	"An osteochondrosis that results_in death and fracture located_in hip joint." []	563930	\N	\N	EFO	2	EFO	skeletal system disease	Legg-Calve-Perthes Disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007341	"An osteochondrosis that results_in death and fracture located_in hip joint." []	1145115	\N	\N	EFO	3	EFO	disease	Legg-Calve-Perthes Disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007341	"An osteochondrosis that results_in death and fracture located_in hip joint." []	2027660	\N	\N	EFO	4	EFO	disposition	Legg-Calve-Perthes Disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007341	"An osteochondrosis that results_in death and fracture located_in hip joint." []	3179068	\N	\N	EFO	5	EFO	material property	Legg-Calve-Perthes Disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007341	"An osteochondrosis that results_in death and fracture located_in hip joint." []	4388572	\N	\N	EFO	6	EFO	experimental factor	Legg-Calve-Perthes Disease
EFO:0007342	\N	\N	"A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." []	EFO:0007342	"A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." []	68589	\N	\N	EFO	0	EFO	legionellosis	legionellosis
EFO:0000771	EFO:0007342	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007342	"A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." []	210719	\N	\N	EFO	1	EFO	bacterial disease	legionellosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007342	"A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." []	563931	\N	\N	EFO	2	EFO	infectious disease	legionellosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007342	"A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." []	1145116	\N	\N	EFO	3	EFO	disease	legionellosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007342	"A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." []	2027661	\N	\N	EFO	4	EFO	disposition	legionellosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007342	"A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." []	3179069	\N	\N	EFO	5	EFO	material property	legionellosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007342	"A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." []	4388573	\N	\N	EFO	6	EFO	experimental factor	legionellosis
EFO:0007343	\N	\N	"A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." []	EFO:0007343	"A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." []	68590	\N	\N	EFO	0	EFO	Legionnaires' disease	Legionnaires' disease
EFO:0000771	EFO:0007343	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007343	"A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." []	210720	\N	\N	EFO	1	EFO	bacterial disease	Legionnaires' disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007343	"A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." []	563932	\N	\N	EFO	2	EFO	infectious disease	Legionnaires' disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007343	"A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." []	1145117	\N	\N	EFO	3	EFO	disease	Legionnaires' disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007343	"A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." []	2027662	\N	\N	EFO	4	EFO	disposition	Legionnaires' disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007343	"A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." []	3179070	\N	\N	EFO	5	EFO	material property	Legionnaires' disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007343	"A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." []	4388574	\N	\N	EFO	6	EFO	experimental factor	Legionnaires' disease
EFO:0007344	\N	\N	"A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly." []	EFO:0007344	"A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly." []	68591	\N	\N	EFO	0	EFO	leptospirosis	leptospirosis
EFO:0000771	EFO:0007344	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007344	"A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly." []	210721	\N	\N	EFO	1	EFO	bacterial disease	leptospirosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007344	"A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly." []	563933	\N	\N	EFO	2	EFO	infectious disease	leptospirosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007344	"A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly." []	1145118	\N	\N	EFO	3	EFO	disease	leptospirosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007344	"A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly." []	2027663	\N	\N	EFO	4	EFO	disposition	leptospirosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007344	"A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly." []	3179071	\N	\N	EFO	5	EFO	material property	leptospirosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007344	"A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly." []	4388575	\N	\N	EFO	6	EFO	experimental factor	leptospirosis
EFO:0007345	\N	\N	"An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." []	EFO:0007345	"An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." []	68592	\N	\N	EFO	0	EFO	lipid pneumonia	lipid pneumonia
EFO:0003106	EFO:0007345	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:0007345	"An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." []	210722	\N	\N	EFO	1	EFO	pneumonia	lipid pneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007345	"An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." []	563934	\N	\N	EFO	2	EFO	lung disease	lipid pneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007345	"An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." []	563935	\N	\N	EFO	2	EFO	infectious disease	lipid pneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007345	"An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." []	1145119	\N	\N	EFO	3	EFO	respiratory system disease	lipid pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007345	"An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." []	1145120	\N	\N	EFO	3	EFO	disease	lipid pneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007345	"An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." []	2027664	\N	\N	EFO	4	EFO	disease	lipid pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007345	"An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." []	3179072	\N	\N	EFO	5	EFO	disposition	lipid pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007345	"An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." []	4132743	\N	\N	EFO	6	EFO	material property	lipid pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007345	"An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." []	5181045	\N	\N	EFO	7	EFO	experimental factor	lipid pneumonia
EFO:0007346	\N	\N	"A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes." []	EFO:0007346	"A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes." []	68593	\N	\N	EFO	0	EFO	lipoatrophic diabetes	lipoatrophic diabetes
EFO:0001360	EFO:0007346	\N	"A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." []	EFO:0007346	"A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes." []	210723	\N	\N	EFO	1	EFO	type II diabetes mellitus	lipoatrophic diabetes
EFO:0000400	EFO:0001360	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	EFO:0007346	"A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes." []	563936	\N	\N	EFO	2	EFO	diabetes mellitus	lipoatrophic diabetes
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0007346	"A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes." []	1145121	\N	\N	EFO	3	EFO	metabolic disease	lipoatrophic diabetes
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007346	"A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes." []	2027666	\N	\N	EFO	4	EFO	disease	lipoatrophic diabetes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007346	"A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes." []	3179074	\N	\N	EFO	5	EFO	disposition	lipoatrophic diabetes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007346	"A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes." []	4388577	\N	\N	EFO	6	EFO	material property	lipoatrophic diabetes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007346	"A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes." []	5408936	\N	\N	EFO	7	EFO	experimental factor	lipoatrophic diabetes
EFO:0007347	\N	\N	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." []	EFO:0007347	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." []	68594	\N	\N	EFO	0	EFO	listeriosis	listeriosis
EFO:0000771	EFO:0007347	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007347	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." []	210724	\N	\N	EFO	1	EFO	bacterial disease	listeriosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007347	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." []	563937	\N	\N	EFO	2	EFO	infectious disease	listeriosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007347	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." []	1145122	\N	\N	EFO	3	EFO	disease	listeriosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007347	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." []	2027667	\N	\N	EFO	4	EFO	disposition	listeriosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007347	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." []	3179075	\N	\N	EFO	5	EFO	material property	listeriosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007347	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." []	4388578	\N	\N	EFO	6	EFO	experimental factor	listeriosis
EFO:0007348	\N	\N	"A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs." []	EFO:0007348	"A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs." []	68595	\N	\N	EFO	0	EFO	louping ill	louping ill
EFO:0005932	EFO:0007348	\N	"A disease that occurs in animals." []	EFO:0007348	"A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs." []	210725	\N	\N	EFO	1	EFO	animal disease	louping ill
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007348	"A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs." []	563938	\N	\N	EFO	2	EFO	disease	louping ill
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007348	"A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs." []	1145123	\N	\N	EFO	3	EFO	disposition	louping ill
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007348	"A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs." []	2027668	\N	\N	EFO	4	EFO	material property	louping ill
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007348	"A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs." []	3179076	\N	\N	EFO	5	EFO	experimental factor	louping ill
EFO:0007349	\N	\N	"A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." []	EFO:0007349	"A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." []	68596	\N	\N	EFO	0	EFO	lumpy skin disease	lumpy skin disease
EFO:0000701	EFO:0007349	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007349	"A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." []	210726	\N	\N	EFO	1	EFO	skin disease	lumpy skin disease
EFO:0000763	EFO:0007349	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007349	"A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." []	210727	\N	\N	EFO	1	EFO	viral disease	lumpy skin disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007349	"A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." []	563939	\N	\N	EFO	2	EFO	disease	lumpy skin disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007349	"A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." []	563940	\N	\N	EFO	2	EFO	infectious disease	lumpy skin disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007349	"A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." []	2027670	\N	\N	EFO	4	EFO	disposition	lumpy skin disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007349	"A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." []	1145125	\N	\N	EFO	3	EFO	disease	lumpy skin disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007349	"A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." []	2999873	\N	\N	EFO	5	EFO	material property	lumpy skin disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007349	"A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." []	4132744	\N	\N	EFO	6	EFO	experimental factor	lumpy skin disease
EFO:0007350	\N	\N	"An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." []	EFO:0007350	"An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." []	68597	\N	\N	EFO	0	EFO	lymph node tuberculosis	lymph node tuberculosis
Orphanet:3389	EFO:0007350	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007350	"An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." []	210728	\N	\N	EFO	1	EFO	Tuberculosis	lymph node tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007350	"An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." []	563941	\N	\N	EFO	2	EFO	respiratory system disease	lymph node tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007350	"An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." []	563942	\N	\N	EFO	2	EFO	bacterial disease	lymph node tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007350	"An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." []	1145126	\N	\N	EFO	3	EFO	disease	lymph node tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007350	"An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." []	1145127	\N	\N	EFO	3	EFO	infectious disease	lymph node tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007350	"An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." []	3179079	\N	\N	EFO	5	EFO	disposition	lymph node tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007350	"An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." []	2027672	\N	\N	EFO	4	EFO	disease	lymph node tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007350	"An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." []	4132745	\N	\N	EFO	6	EFO	material property	lymph node tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007350	"An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." []	5181046	\N	\N	EFO	7	EFO	experimental factor	lymph node tuberculosis
EFO:0007351	\N	\N	"A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning." []	EFO:0007351	"A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning." []	68598	\N	\N	EFO	0	EFO	lymphangitis	lymphangitis
EFO:0005803	EFO:0007351	\N	"Disorders of the blood and blood forming tissues." []	EFO:0007351	"A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning." []	210729	\N	\N	EFO	1	EFO	hematological system disease	lymphangitis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007351	"A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning." []	563943	\N	\N	EFO	2	EFO	disease	lymphangitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007351	"A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning." []	1145128	\N	\N	EFO	3	EFO	disposition	lymphangitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007351	"A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning." []	2027673	\N	\N	EFO	4	EFO	material property	lymphangitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007351	"A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning." []	3179080	\N	\N	EFO	5	EFO	experimental factor	lymphangitis
EFO:0007352	\N	\N	"a disease in lymphatic system" []	EFO:0007352	"a disease in lymphatic system" []	68599	\N	\N	EFO	0	EFO	lymphatic system disease	lymphatic system disease
EFO:0005803	EFO:0007352	\N	"Disorders of the blood and blood forming tissues." []	EFO:0007352	"a disease in lymphatic system" []	210730	\N	\N	EFO	1	EFO	hematological system disease	lymphatic system disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007352	"a disease in lymphatic system" []	563944	\N	\N	EFO	2	EFO	disease	lymphatic system disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007352	"a disease in lymphatic system" []	1145129	\N	\N	EFO	3	EFO	disposition	lymphatic system disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007352	"a disease in lymphatic system" []	2027674	\N	\N	EFO	4	EFO	material property	lymphatic system disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007352	"a disease in lymphatic system" []	3179081	\N	\N	EFO	5	EFO	experimental factor	lymphatic system disease
EFO:0007353	\N	\N	"A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis." []	EFO:0007353	"A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis." []	68600	\N	\N	EFO	0	EFO	lymphogranuloma venereum	lymphogranuloma venereum
EFO:0000771	EFO:0007353	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007353	"A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis." []	210731	\N	\N	EFO	1	EFO	bacterial disease	lymphogranuloma venereum
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007353	"A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis." []	563945	\N	\N	EFO	2	EFO	infectious disease	lymphogranuloma venereum
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007353	"A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis." []	1145130	\N	\N	EFO	3	EFO	disease	lymphogranuloma venereum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007353	"A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis." []	2027675	\N	\N	EFO	4	EFO	disposition	lymphogranuloma venereum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007353	"A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis." []	3179082	\N	\N	EFO	5	EFO	material property	lymphogranuloma venereum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007353	"A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis." []	4388580	\N	\N	EFO	6	EFO	experimental factor	lymphogranuloma venereum
EFO:0007355	\N	\N	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	68601	\N	\N	EFO	0	EFO	male reproductive organ cancer	male reproductive organ cancer
EFO:0000313	EFO:0007355	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	210732	\N	\N	EFO	1	EFO	carcinoma	male reproductive organ cancer
EFO:0000512	EFO:0007355	\N	"any diease of the reproductive system" []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	210733	\N	\N	EFO	1	EFO	reproductive system disease	male reproductive organ cancer
EFO:0003863	EFO:0007355	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	210734	\N	\N	EFO	1	EFO	urogenital neoplasm	male reproductive organ cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	563946	\N	\N	EFO	2	EFO	cancer	male reproductive organ cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	563947	\N	\N	EFO	2	EFO	epithelial neoplasm	male reproductive organ cancer
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	563948	\N	\N	EFO	2	EFO	disease	male reproductive organ cancer
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	563949	\N	\N	EFO	2	EFO	neoplasm	male reproductive organ cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	1145131	\N	\N	EFO	3	EFO	neoplasm	male reproductive organ cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	1145132	\N	\N	EFO	3	EFO	neoplasm	male reproductive organ cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	2999875	\N	\N	EFO	5	EFO	disposition	male reproductive organ cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	2027676	\N	\N	EFO	4	EFO	disease	male reproductive organ cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	4066726	\N	\N	EFO	6	EFO	material property	male reproductive organ cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007355	"A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." []	5059369	\N	\N	EFO	7	EFO	experimental factor	male reproductive organ cancer
EFO:0007356	\N	\N	"A jaw cancer and mandibular disease that affects your lower jawbone." []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	68602	\N	\N	EFO	0	EFO	mandibular cancer	mandibular cancer
EFO:0000405	EFO:0007356	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	210735	\N	\N	EFO	1	EFO	digestive system disease	mandibular cancer
EFO:0002461	EFO:0007356	\N	"Any disease which affects part of the skeletal system." []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	210736	\N	\N	EFO	1	EFO	skeletal system disease	mandibular cancer
EFO:0005950	EFO:0007356	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	210737	\N	\N	EFO	1	EFO	head and neck neoplasia	mandibular cancer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	563950	\N	\N	EFO	2	EFO	disease	mandibular cancer
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	563951	\N	\N	EFO	2	EFO	disease	mandibular cancer
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	563952	\N	\N	EFO	2	EFO	head disease	mandibular cancer
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	563953	\N	\N	EFO	2	EFO	neoplasm	mandibular cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	2027680	\N	\N	EFO	4	EFO	disposition	mandibular cancer
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	1145136	\N	\N	EFO	3	EFO	disease	mandibular cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	1145137	\N	\N	EFO	3	EFO	disease	mandibular cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	2999876	\N	\N	EFO	5	EFO	material property	mandibular cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007356	"A jaw cancer and mandibular disease that affects your lower jawbone." []	4132747	\N	\N	EFO	6	EFO	experimental factor	mandibular cancer
EFO:0007357	\N	\N	"A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies." []	EFO:0007357	"A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies." []	68603	\N	\N	EFO	0	EFO	mansonelliasis	mansonelliasis
EFO:0000701	EFO:0007357	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007357	"A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies." []	210738	\N	\N	EFO	1	EFO	skin disease	mansonelliasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007357	"A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies." []	563954	\N	\N	EFO	2	EFO	disease	mansonelliasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007357	"A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies." []	1145138	\N	\N	EFO	3	EFO	disposition	mansonelliasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007357	"A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies." []	2027681	\N	\N	EFO	4	EFO	material property	mansonelliasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007357	"A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies." []	3179085	\N	\N	EFO	5	EFO	experimental factor	mansonelliasis
EFO:0007358	\N	\N	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding." []	EFO:0007358	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding." []	68604	\N	\N	EFO	0	EFO	Marburg hemorrhagic fever	Marburg hemorrhagic fever
EFO:0000763	EFO:0007358	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007358	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding." []	210739	\N	\N	EFO	1	EFO	viral disease	Marburg hemorrhagic fever
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007358	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding." []	563955	\N	\N	EFO	2	EFO	infectious disease	Marburg hemorrhagic fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007358	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding." []	1145139	\N	\N	EFO	3	EFO	disease	Marburg hemorrhagic fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007358	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding." []	2027682	\N	\N	EFO	4	EFO	disposition	Marburg hemorrhagic fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007358	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding." []	3179086	\N	\N	EFO	5	EFO	material property	Marburg hemorrhagic fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007358	"A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding." []	4388581	\N	\N	EFO	6	EFO	experimental factor	Marburg hemorrhagic fever
EFO:0007359	\N	\N	"A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." []	EFO:0007359	"A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." []	68605	\N	\N	EFO	0	EFO	mast-cell leukemia	mast-cell leukemia
EFO:0000565	EFO:0007359	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:0007359	"A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." []	210740	\N	\N	EFO	1	EFO	leukemia	mast-cell leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:0007359	"A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." []	563956	\N	\N	EFO	2	EFO	lymphoid neoplasm	mast-cell leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007359	"A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." []	1145140	\N	\N	EFO	3	EFO	cancer	mast-cell leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:0007359	"A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." []	1145141	\N	\N	EFO	3	EFO	hematological system disease	mast-cell leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007359	"A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." []	2027683	\N	\N	EFO	4	EFO	neoplasm	mast-cell leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007359	"A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." []	2027684	\N	\N	EFO	4	EFO	disease	mast-cell leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007359	"A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." []	3179087	\N	\N	EFO	5	EFO	disease	mast-cell leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007359	"A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." []	4388582	\N	\N	EFO	6	EFO	disposition	mast-cell leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007359	"A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." []	5181047	\N	\N	EFO	7	EFO	material property	mast-cell leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007359	"A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." []	5996628	\N	\N	EFO	8	EFO	experimental factor	mast-cell leukemia
EFO:0007360	\N	\N	"A jaw cancer and maxillary disease that effects the maxilla or upper jaw." []	EFO:0007360	"A jaw cancer and maxillary disease that effects the maxilla or upper jaw." []	68606	\N	\N	EFO	0	EFO	maxillary neoplasm	maxillary neoplasm
EFO:0002461	EFO:0007360	\N	"Any disease which affects part of the skeletal system." []	EFO:0007360	"A jaw cancer and maxillary disease that effects the maxilla or upper jaw." []	210741	\N	\N	EFO	1	EFO	skeletal system disease	maxillary neoplasm
EFO:0005950	EFO:0007360	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:0007360	"A jaw cancer and maxillary disease that effects the maxilla or upper jaw." []	210742	\N	\N	EFO	1	EFO	head and neck neoplasia	maxillary neoplasm
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007360	"A jaw cancer and maxillary disease that effects the maxilla or upper jaw." []	563957	\N	\N	EFO	2	EFO	disease	maxillary neoplasm
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007360	"A jaw cancer and maxillary disease that effects the maxilla or upper jaw." []	563958	\N	\N	EFO	2	EFO	head disease	maxillary neoplasm
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007360	"A jaw cancer and maxillary disease that effects the maxilla or upper jaw." []	563959	\N	\N	EFO	2	EFO	neoplasm	maxillary neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007360	"A jaw cancer and maxillary disease that effects the maxilla or upper jaw." []	2027686	\N	\N	EFO	4	EFO	disposition	maxillary neoplasm
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007360	"A jaw cancer and maxillary disease that effects the maxilla or upper jaw." []	1145143	\N	\N	EFO	3	EFO	disease	maxillary neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007360	"A jaw cancer and maxillary disease that effects the maxilla or upper jaw." []	1145144	\N	\N	EFO	3	EFO	disease	maxillary neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007360	"A jaw cancer and maxillary disease that effects the maxilla or upper jaw." []	2999877	\N	\N	EFO	5	EFO	material property	maxillary neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007360	"A jaw cancer and maxillary disease that effects the maxilla or upper jaw." []	4132748	\N	\N	EFO	6	EFO	experimental factor	maxillary neoplasm
EFO:0007361	\N	\N	"A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache." []	EFO:0007361	"A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache." []	68607	\N	\N	EFO	0	EFO	maxillary sinusitis	maxillary sinusitis
EFO:0007486	EFO:0007361	\N	"A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." []	EFO:0007361	"A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache." []	210743	\N	\N	EFO	1	EFO	sinusitis	maxillary sinusitis
EFO:0000684	EFO:0007486	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007361	"A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache." []	563960	\N	\N	EFO	2	EFO	respiratory system disease	maxillary sinusitis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007361	"A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache." []	1145145	\N	\N	EFO	3	EFO	disease	maxillary sinusitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007361	"A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache." []	2027687	\N	\N	EFO	4	EFO	disposition	maxillary sinusitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007361	"A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache." []	3179090	\N	\N	EFO	5	EFO	material property	maxillary sinusitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007361	"A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache." []	4388584	\N	\N	EFO	6	EFO	experimental factor	maxillary sinusitis
EFO:0007362	\N	\N	"A thoracic cancer that is located_in the mediastinum." []	EFO:0007362	"A thoracic cancer that is located_in the mediastinum." []	68608	\N	\N	EFO	0	EFO	mediastinal cancer	mediastinal cancer
EFO:0000313	EFO:0007362	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007362	"A thoracic cancer that is located_in the mediastinum." []	210744	\N	\N	EFO	1	EFO	carcinoma	mediastinal cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007362	"A thoracic cancer that is located_in the mediastinum." []	563961	\N	\N	EFO	2	EFO	cancer	mediastinal cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007362	"A thoracic cancer that is located_in the mediastinum." []	563962	\N	\N	EFO	2	EFO	epithelial neoplasm	mediastinal cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007362	"A thoracic cancer that is located_in the mediastinum." []	1145146	\N	\N	EFO	3	EFO	neoplasm	mediastinal cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007362	"A thoracic cancer that is located_in the mediastinum." []	1145147	\N	\N	EFO	3	EFO	neoplasm	mediastinal cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007362	"A thoracic cancer that is located_in the mediastinum." []	2027688	\N	\N	EFO	4	EFO	disease	mediastinal cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007362	"A thoracic cancer that is located_in the mediastinum." []	3179091	\N	\N	EFO	5	EFO	disposition	mediastinal cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007362	"A thoracic cancer that is located_in the mediastinum." []	4388585	\N	\N	EFO	6	EFO	material property	mediastinal cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007362	"A thoracic cancer that is located_in the mediastinum." []	5408938	\N	\N	EFO	7	EFO	experimental factor	mediastinal cancer
EFO:0007363	\N	\N	"A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid." []	EFO:0007363	"A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid." []	68609	\N	\N	EFO	0	EFO	meibomian cyst	meibomian cyst
EFO:0003966	EFO:0007363	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0007363	"A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid." []	210745	\N	\N	EFO	1	EFO	eye disease	meibomian cyst
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007363	"A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid." []	563963	\N	\N	EFO	2	EFO	disease	meibomian cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007363	"A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid." []	1145148	\N	\N	EFO	3	EFO	disposition	meibomian cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007363	"A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid." []	2027689	\N	\N	EFO	4	EFO	material property	meibomian cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007363	"A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid." []	3179092	\N	\N	EFO	5	EFO	experimental factor	meibomian cyst
EFO:0007364	\N	\N	"A central nervous system disease that involves encephalitis which occurs along with meningitis." []	EFO:0007364	"A central nervous system disease that involves encephalitis which occurs along with meningitis." []	68610	\N	\N	EFO	0	EFO	meningoencephalitis	meningoencephalitis
EFO:0000618	EFO:0007364	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007364	"A central nervous system disease that involves encephalitis which occurs along with meningitis." []	210746	\N	\N	EFO	1	EFO	nervous system disease	meningoencephalitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007364	"A central nervous system disease that involves encephalitis which occurs along with meningitis." []	563964	\N	\N	EFO	2	EFO	disease	meningoencephalitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007364	"A central nervous system disease that involves encephalitis which occurs along with meningitis." []	1145149	\N	\N	EFO	3	EFO	disposition	meningoencephalitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007364	"A central nervous system disease that involves encephalitis which occurs along with meningitis." []	2027690	\N	\N	EFO	4	EFO	material property	meningoencephalitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007364	"A central nervous system disease that involves encephalitis which occurs along with meningitis." []	3179093	\N	\N	EFO	5	EFO	experimental factor	meningoencephalitis
EFO:0007365	\N	\N	"A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." []	EFO:0007365	"A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." []	68611	\N	\N	EFO	0	EFO	mesoblastic nephroma	mesoblastic nephroma
EFO:0003865	EFO:0007365	\N	"Tumors or cancers of the KIDNEY." []	EFO:0007365	"A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." []	210747	\N	\N	EFO	1	EFO	kidney neoplasm	mesoblastic nephroma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:0007365	"A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." []	563965	\N	\N	EFO	2	EFO	kidney disease	mesoblastic nephroma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0007365	"A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." []	563966	\N	\N	EFO	2	EFO	urogenital neoplasm	mesoblastic nephroma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007365	"A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." []	1145150	\N	\N	EFO	3	EFO	disease	mesoblastic nephroma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007365	"A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." []	1145151	\N	\N	EFO	3	EFO	neoplasm	mesoblastic nephroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007365	"A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." []	3179095	\N	\N	EFO	5	EFO	disposition	mesoblastic nephroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007365	"A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." []	2027692	\N	\N	EFO	4	EFO	disease	mesoblastic nephroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007365	"A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." []	4132749	\N	\N	EFO	6	EFO	material property	mesoblastic nephroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007365	"A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." []	5181048	\N	\N	EFO	7	EFO	experimental factor	mesoblastic nephroma
EFO:0007366	\N	\N	"An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members." []	EFO:0007366	"An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members." []	68612	\N	\N	EFO	0	EFO	microsporidiosis	microsporidiosis
EFO:0000540	EFO:0007366	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007366	"An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members." []	210748	\N	\N	EFO	1	EFO	immune system disease	microsporidiosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007366	"An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members." []	563967	\N	\N	EFO	2	EFO	disease	microsporidiosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007366	"An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members." []	1145152	\N	\N	EFO	3	EFO	disposition	microsporidiosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007366	"An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members." []	2027693	\N	\N	EFO	4	EFO	material property	microsporidiosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007366	"An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members." []	3179096	\N	\N	EFO	5	EFO	experimental factor	microsporidiosis
EFO:0007367	\N	\N	"A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection." []	EFO:0007367	"A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection." []	68613	\N	\N	EFO	0	EFO	middle lobe syndrome	middle lobe syndrome
EFO:0003818	EFO:0007367	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007367	"A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection." []	210749	\N	\N	EFO	1	EFO	lung disease	middle lobe syndrome
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007367	"A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection." []	563968	\N	\N	EFO	2	EFO	respiratory system disease	middle lobe syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007367	"A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection." []	1145153	\N	\N	EFO	3	EFO	disease	middle lobe syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007367	"A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection." []	2027694	\N	\N	EFO	4	EFO	disposition	middle lobe syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007367	"A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection." []	3179097	\N	\N	EFO	5	EFO	material property	middle lobe syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007367	"A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection." []	4388587	\N	\N	EFO	6	EFO	experimental factor	middle lobe syndrome
EFO:0007368	\N	\N	"An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." []	EFO:0007368	"An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." []	68614	\N	\N	EFO	0	EFO	miliary tuberculosis	miliary tuberculosis
Orphanet:3389	EFO:0007368	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007368	"An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." []	210750	\N	\N	EFO	1	EFO	Tuberculosis	miliary tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007368	"An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." []	563969	\N	\N	EFO	2	EFO	respiratory system disease	miliary tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007368	"An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." []	563970	\N	\N	EFO	2	EFO	bacterial disease	miliary tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007368	"An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." []	1145154	\N	\N	EFO	3	EFO	disease	miliary tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007368	"An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." []	1145155	\N	\N	EFO	3	EFO	infectious disease	miliary tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007368	"An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." []	3179099	\N	\N	EFO	5	EFO	disposition	miliary tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007368	"An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." []	2027696	\N	\N	EFO	4	EFO	disease	miliary tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007368	"An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." []	4132750	\N	\N	EFO	6	EFO	material property	miliary tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007368	"An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." []	5181049	\N	\N	EFO	7	EFO	experimental factor	miliary tuberculosis
EFO:0007369	\N	\N	"A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." []	EFO:0007369	"A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." []	68615	\N	\N	EFO	0	EFO	milk allergic reaction	milk allergic reaction
EFO:1001890	EFO:0007369	\N	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	EFO:0007369	"A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." []	210751	\N	\N	EFO	1	EFO	food allergy	milk allergic reaction
EFO:0003785	EFO:1001890	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0007369	"A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." []	563971	\N	\N	EFO	2	EFO	allergy	milk allergic reaction
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007369	"A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." []	1145156	\N	\N	EFO	3	EFO	immune system disease	milk allergic reaction
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007369	"A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." []	2027697	\N	\N	EFO	4	EFO	disease	milk allergic reaction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007369	"A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." []	3179100	\N	\N	EFO	5	EFO	disposition	milk allergic reaction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007369	"A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." []	4388589	\N	\N	EFO	6	EFO	material property	milk allergic reaction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007369	"A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." []	5408939	\N	\N	EFO	7	EFO	experimental factor	milk allergic reaction
EFO:0007370	\N	\N	"A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." []	EFO:0007370	"A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." []	68616	\N	\N	EFO	0	EFO	milker's nodule	milker's nodule
EFO:0000701	EFO:0007370	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007370	"A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." []	210752	\N	\N	EFO	1	EFO	skin disease	milker's nodule
EFO:0000763	EFO:0007370	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007370	"A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." []	210753	\N	\N	EFO	1	EFO	viral disease	milker's nodule
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007370	"A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." []	563972	\N	\N	EFO	2	EFO	disease	milker's nodule
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007370	"A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." []	563973	\N	\N	EFO	2	EFO	infectious disease	milker's nodule
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007370	"A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." []	2027699	\N	\N	EFO	4	EFO	disposition	milker's nodule
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007370	"A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." []	1145158	\N	\N	EFO	3	EFO	disease	milker's nodule
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007370	"A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." []	2999878	\N	\N	EFO	5	EFO	material property	milker's nodule
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007370	"A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." []	4132751	\N	\N	EFO	6	EFO	experimental factor	milker's nodule
EFO:0007371	\N	\N	"A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." []	EFO:0007371	"A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." []	68617	\N	\N	EFO	0	EFO	Miller Fisher syndrome	Miller Fisher syndrome
EFO:0007292	EFO:0007371	\N	"An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." []	EFO:0007371	"A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." []	210754	\N	\N	EFO	1	EFO	Guillain-Barre syndrome	Miller Fisher syndrome
EFO:0005140	EFO:0007292	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0007371	"A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." []	563974	\N	\N	EFO	2	EFO	autoimmune disease	Miller Fisher syndrome
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007371	"A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." []	1145159	\N	\N	EFO	3	EFO	immune system disease	Miller Fisher syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007371	"A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." []	2027700	\N	\N	EFO	4	EFO	disease	Miller Fisher syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007371	"A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." []	3179102	\N	\N	EFO	5	EFO	disposition	Miller Fisher syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007371	"A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." []	4388590	\N	\N	EFO	6	EFO	material property	Miller Fisher syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007371	"A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." []	5408940	\N	\N	EFO	7	EFO	experimental factor	Miller Fisher syndrome
EFO:0007372	\N	\N	"A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart." []	EFO:0007372	"A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart." []	68618	\N	\N	EFO	0	EFO	mitral valve stenosis	mitral valve stenosis
EFO:0003777	EFO:0007372	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0007372	"A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart." []	210755	\N	\N	EFO	1	EFO	heart disease	mitral valve stenosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007372	"A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart." []	563975	\N	\N	EFO	2	EFO	cardiovascular disease	mitral valve stenosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007372	"A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart." []	1145160	\N	\N	EFO	3	EFO	disease	mitral valve stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007372	"A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart." []	2027701	\N	\N	EFO	4	EFO	disposition	mitral valve stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007372	"A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart." []	3179103	\N	\N	EFO	5	EFO	material property	mitral valve stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007372	"A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart." []	4388591	\N	\N	EFO	6	EFO	experimental factor	mitral valve stenosis
EFO:0007373	\N	\N	"A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." []	EFO:0007373	"A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." []	68619	\N	\N	EFO	0	EFO	mixed cell type cancer	mixed cell type cancer
EFO:0000313	EFO:0007373	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007373	"A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." []	210756	\N	\N	EFO	1	EFO	carcinoma	mixed cell type cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007373	"A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." []	563976	\N	\N	EFO	2	EFO	cancer	mixed cell type cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007373	"A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." []	563977	\N	\N	EFO	2	EFO	epithelial neoplasm	mixed cell type cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007373	"A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." []	1145161	\N	\N	EFO	3	EFO	neoplasm	mixed cell type cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007373	"A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." []	1145162	\N	\N	EFO	3	EFO	neoplasm	mixed cell type cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007373	"A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." []	2027702	\N	\N	EFO	4	EFO	disease	mixed cell type cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007373	"A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." []	3179104	\N	\N	EFO	5	EFO	disposition	mixed cell type cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007373	"A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." []	4388592	\N	\N	EFO	6	EFO	material property	mixed cell type cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007373	"A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." []	5408941	\N	\N	EFO	7	EFO	experimental factor	mixed cell type cancer
EFO:0007374	\N	\N	"A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." []	EFO:0007374	"A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." []	68620	\N	\N	EFO	0	EFO	mixed connective tissue disease	mixed connective tissue disease
EFO:0005755	EFO:0007374	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0007374	"A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." []	210757	\N	\N	EFO	1	EFO	rheumatic disease	mixed connective tissue disease
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0007374	"A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." []	563978	\N	\N	EFO	2	EFO	skeletal system disease	mixed connective tissue disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007374	"A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." []	1145163	\N	\N	EFO	3	EFO	disease	mixed connective tissue disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007374	"A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." []	2027703	\N	\N	EFO	4	EFO	disposition	mixed connective tissue disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007374	"A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." []	3179105	\N	\N	EFO	5	EFO	material property	mixed connective tissue disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007374	"A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." []	4388593	\N	\N	EFO	6	EFO	experimental factor	mixed connective tissue disease
EFO:0007375	\N	\N	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." []	EFO:0007375	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." []	68621	\N	\N	EFO	0	EFO	molluscum contagiosum	molluscum contagiosum
EFO:0000701	EFO:0007375	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007375	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." []	210758	\N	\N	EFO	1	EFO	skin disease	molluscum contagiosum
EFO:0000763	EFO:0007375	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007375	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." []	210759	\N	\N	EFO	1	EFO	viral disease	molluscum contagiosum
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007375	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." []	563979	\N	\N	EFO	2	EFO	disease	molluscum contagiosum
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007375	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." []	563980	\N	\N	EFO	2	EFO	infectious disease	molluscum contagiosum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007375	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." []	2027705	\N	\N	EFO	4	EFO	disposition	molluscum contagiosum
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007375	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." []	1145165	\N	\N	EFO	3	EFO	disease	molluscum contagiosum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007375	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." []	2999879	\N	\N	EFO	5	EFO	material property	molluscum contagiosum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007375	"A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." []	4132752	\N	\N	EFO	6	EFO	experimental factor	molluscum contagiosum
EFO:0007376	\N	\N	"A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses." []	EFO:0007376	"A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses." []	68622	\N	\N	EFO	0	EFO	Mononegavirales infectious disease	Mononegavirales infectious disease
EFO:0000763	EFO:0007376	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007376	"A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses." []	210760	\N	\N	EFO	1	EFO	viral disease	Mononegavirales infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007376	"A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses." []	563981	\N	\N	EFO	2	EFO	infectious disease	Mononegavirales infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007376	"A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses." []	1145166	\N	\N	EFO	3	EFO	disease	Mononegavirales infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007376	"A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses." []	2027706	\N	\N	EFO	4	EFO	disposition	Mononegavirales infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007376	"A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses." []	3179107	\N	\N	EFO	5	EFO	material property	Mononegavirales infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007376	"A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses." []	4388594	\N	\N	EFO	6	EFO	experimental factor	Mononegavirales infectious disease
EFO:0007377	\N	\N	"A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus." []	EFO:0007377	"A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus." []	68623	\N	\N	EFO	0	EFO	Morbillivirus infectious disease	Morbillivirus infectious disease
EFO:0000763	EFO:0007377	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007377	"A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus." []	210761	\N	\N	EFO	1	EFO	viral disease	Morbillivirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007377	"A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus." []	563982	\N	\N	EFO	2	EFO	infectious disease	Morbillivirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007377	"A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus." []	1145167	\N	\N	EFO	3	EFO	disease	Morbillivirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007377	"A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus." []	2027707	\N	\N	EFO	4	EFO	disposition	Morbillivirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007377	"A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus." []	3179108	\N	\N	EFO	5	EFO	material property	Morbillivirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007377	"A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus." []	4388595	\N	\N	EFO	6	EFO	experimental factor	Morbillivirus infectious disease
EFO:0007378	\N	\N	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	EFO:0007378	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	68624	\N	\N	EFO	0	EFO	mucinous cystadenocarcinoma	mucinous cystadenocarcinoma
EFO:0006387	EFO:0007378	\N	"" []	EFO:0007378	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	210762	\N	\N	EFO	1	EFO	cystadenocarcinoma	mucinous cystadenocarcinoma
EFO:0000228	EFO:0006387	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0007378	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	563983	\N	\N	EFO	2	EFO	adenocarcinoma	mucinous cystadenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007378	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	1145168	\N	\N	EFO	3	EFO	carcinoma	mucinous cystadenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007378	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	2027708	\N	\N	EFO	4	EFO	cancer	mucinous cystadenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007378	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	2027709	\N	\N	EFO	4	EFO	epithelial neoplasm	mucinous cystadenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007378	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	3179109	\N	\N	EFO	5	EFO	neoplasm	mucinous cystadenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007378	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	3179110	\N	\N	EFO	5	EFO	neoplasm	mucinous cystadenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007378	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	4388596	\N	\N	EFO	6	EFO	disease	mucinous cystadenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007378	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	5408942	\N	\N	EFO	7	EFO	disposition	mucinous cystadenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007378	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	6147531	\N	\N	EFO	8	EFO	material property	mucinous cystadenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007378	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	6631861	\N	\N	EFO	9	EFO	experimental factor	mucinous cystadenocarcinoma
EFO:0007379	\N	\N	"A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa." []	EFO:0007379	"A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa." []	68625	\N	\N	EFO	0	EFO	mucocutaneous Leishmaniasis	mucocutaneous Leishmaniasis
EFO:0005044	EFO:0007379	\N	"Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." []	EFO:0007379	"A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa." []	210763	\N	\N	EFO	1	EFO	Leishmaniasis	mucocutaneous Leishmaniasis
EFO:0001067	EFO:0005044	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007379	"A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa." []	563984	\N	\N	EFO	2	EFO	parasitic infection	mucocutaneous Leishmaniasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007379	"A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa." []	1145169	\N	\N	EFO	3	EFO	infectious disease	mucocutaneous Leishmaniasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007379	"A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa." []	2027710	\N	\N	EFO	4	EFO	disease	mucocutaneous Leishmaniasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007379	"A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa." []	3179111	\N	\N	EFO	5	EFO	disposition	mucocutaneous Leishmaniasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007379	"A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa." []	4388597	\N	\N	EFO	6	EFO	material property	mucocutaneous Leishmaniasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007379	"A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa." []	5408943	\N	\N	EFO	7	EFO	experimental factor	mucocutaneous Leishmaniasis
EFO:0007380	\N	\N	"An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds." []	EFO:0007380	"An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds." []	68626	\N	\N	EFO	0	EFO	mucormycosis	mucormycosis
EFO:0005741	EFO:0007380	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007380	"An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds." []	210764	\N	\N	EFO	1	EFO	infectious disease	mucormycosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007380	"An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds." []	563985	\N	\N	EFO	2	EFO	disease	mucormycosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007380	"An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds." []	1145170	\N	\N	EFO	3	EFO	disposition	mucormycosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007380	"An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds." []	2027711	\N	\N	EFO	4	EFO	material property	mucormycosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007380	"An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds." []	3179112	\N	\N	EFO	5	EFO	experimental factor	mucormycosis
EFO:0007381	\N	\N	"A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." []	EFO:0007381	"A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." []	68627	\N	\N	EFO	0	EFO	multidrug-resistant tuberculosis	multidrug-resistant tuberculosis
Orphanet:3389	EFO:0007381	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007381	"A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." []	210765	\N	\N	EFO	1	EFO	Tuberculosis	multidrug-resistant tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007381	"A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." []	563986	\N	\N	EFO	2	EFO	respiratory system disease	multidrug-resistant tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007381	"A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." []	563987	\N	\N	EFO	2	EFO	bacterial disease	multidrug-resistant tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007381	"A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." []	1145171	\N	\N	EFO	3	EFO	disease	multidrug-resistant tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007381	"A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." []	1145172	\N	\N	EFO	3	EFO	infectious disease	multidrug-resistant tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007381	"A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." []	3179114	\N	\N	EFO	5	EFO	disposition	multidrug-resistant tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007381	"A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." []	2027713	\N	\N	EFO	4	EFO	disease	multidrug-resistant tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007381	"A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." []	4132753	\N	\N	EFO	6	EFO	material property	multidrug-resistant tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007381	"A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." []	5181050	\N	\N	EFO	7	EFO	experimental factor	multidrug-resistant tuberculosis
EFO:0007382	\N	\N	"A syndrome that is an adverse physical reaction to low levels of many common chemicals." []	EFO:0007382	"A syndrome that is an adverse physical reaction to low levels of many common chemicals." []	68628	\N	\N	EFO	0	EFO	multiple chemical sensitivity	multiple chemical sensitivity
EFO:0000540	EFO:0007382	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007382	"A syndrome that is an adverse physical reaction to low levels of many common chemicals." []	210766	\N	\N	EFO	1	EFO	immune system disease	multiple chemical sensitivity
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007382	"A syndrome that is an adverse physical reaction to low levels of many common chemicals." []	563988	\N	\N	EFO	2	EFO	disease	multiple chemical sensitivity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007382	"A syndrome that is an adverse physical reaction to low levels of many common chemicals." []	1145173	\N	\N	EFO	3	EFO	disposition	multiple chemical sensitivity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007382	"A syndrome that is an adverse physical reaction to low levels of many common chemicals." []	2027714	\N	\N	EFO	4	EFO	material property	multiple chemical sensitivity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007382	"A syndrome that is an adverse physical reaction to low levels of many common chemicals." []	3179115	\N	\N	EFO	5	EFO	experimental factor	multiple chemical sensitivity
EFO:0007383	\N	\N	"A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person." []	EFO:0007383	"A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person." []	68629	\N	\N	EFO	0	EFO	Mumps virus infectious disease	Mumps virus infectious disease
EFO:0000763	EFO:0007383	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007383	"A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person." []	210767	\N	\N	EFO	1	EFO	viral disease	Mumps virus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007383	"A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person." []	563989	\N	\N	EFO	2	EFO	infectious disease	Mumps virus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007383	"A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person." []	1145174	\N	\N	EFO	3	EFO	disease	Mumps virus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007383	"A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person." []	2027715	\N	\N	EFO	4	EFO	disposition	Mumps virus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007383	"A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person." []	3179116	\N	\N	EFO	5	EFO	material property	Mumps virus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007383	"A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person." []	4388599	\N	\N	EFO	6	EFO	experimental factor	Mumps virus infectious disease
EFO:0007384	\N	\N	"A musculoskeletal system cancer that is located_in muscle." []	EFO:0007384	"A musculoskeletal system cancer that is located_in muscle." []	68630	\N	\N	EFO	0	EFO	muscle cancer	muscle cancer
EFO:0000313	EFO:0007384	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007384	"A musculoskeletal system cancer that is located_in muscle." []	210768	\N	\N	EFO	1	EFO	carcinoma	muscle cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007384	"A musculoskeletal system cancer that is located_in muscle." []	563990	\N	\N	EFO	2	EFO	cancer	muscle cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007384	"A musculoskeletal system cancer that is located_in muscle." []	563991	\N	\N	EFO	2	EFO	epithelial neoplasm	muscle cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007384	"A musculoskeletal system cancer that is located_in muscle." []	1145175	\N	\N	EFO	3	EFO	neoplasm	muscle cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007384	"A musculoskeletal system cancer that is located_in muscle." []	1145176	\N	\N	EFO	3	EFO	neoplasm	muscle cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007384	"A musculoskeletal system cancer that is located_in muscle." []	2027716	\N	\N	EFO	4	EFO	disease	muscle cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007384	"A musculoskeletal system cancer that is located_in muscle." []	3179117	\N	\N	EFO	5	EFO	disposition	muscle cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007384	"A musculoskeletal system cancer that is located_in muscle." []	4388600	\N	\N	EFO	6	EFO	material property	muscle cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007384	"A musculoskeletal system cancer that is located_in muscle." []	5408944	\N	\N	EFO	7	EFO	experimental factor	muscle cancer
EFO:0007385	\N	\N	"An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." []	EFO:0007385	"An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." []	68631	\N	\N	EFO	0	EFO	mushroom workers' lung	mushroom workers' lung
EFO:0003785	EFO:0007385	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0007385	"An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." []	210769	\N	\N	EFO	1	EFO	allergy	mushroom workers' lung
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007385	"An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." []	563992	\N	\N	EFO	2	EFO	immune system disease	mushroom workers' lung
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007385	"An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." []	1145177	\N	\N	EFO	3	EFO	disease	mushroom workers' lung
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007385	"An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." []	2027717	\N	\N	EFO	4	EFO	disposition	mushroom workers' lung
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007385	"An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." []	3179118	\N	\N	EFO	5	EFO	material property	mushroom workers' lung
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007385	"An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." []	4388601	\N	\N	EFO	6	EFO	experimental factor	mushroom workers' lung
EFO:0007386	\N	\N	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons." []	EFO:0007386	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons." []	68632	\N	\N	EFO	0	EFO	Mycobacterium avium complex disease	Mycobacterium avium complex disease
EFO:0000771	EFO:0007386	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007386	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons." []	210770	\N	\N	EFO	1	EFO	bacterial disease	Mycobacterium avium complex disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007386	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons." []	563993	\N	\N	EFO	2	EFO	infectious disease	Mycobacterium avium complex disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007386	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons." []	1145178	\N	\N	EFO	3	EFO	disease	Mycobacterium avium complex disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007386	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons." []	2027718	\N	\N	EFO	4	EFO	disposition	Mycobacterium avium complex disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007386	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons." []	3179119	\N	\N	EFO	5	EFO	material property	Mycobacterium avium complex disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007386	"A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons." []	4388602	\N	\N	EFO	6	EFO	experimental factor	Mycobacterium avium complex disease
EFO:0007387	\N	\N	"A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." []	EFO:0007387	"A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." []	68633	\N	\N	EFO	0	EFO	Mycoplasma pneumoniae pneumonia	Mycoplasma pneumoniae pneumonia
EFO:0003106	EFO:0007387	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:0007387	"A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." []	210771	\N	\N	EFO	1	EFO	pneumonia	Mycoplasma pneumoniae pneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007387	"A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." []	563994	\N	\N	EFO	2	EFO	lung disease	Mycoplasma pneumoniae pneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007387	"A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." []	563995	\N	\N	EFO	2	EFO	infectious disease	Mycoplasma pneumoniae pneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007387	"A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." []	1145179	\N	\N	EFO	3	EFO	respiratory system disease	Mycoplasma pneumoniae pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007387	"A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." []	1145180	\N	\N	EFO	3	EFO	disease	Mycoplasma pneumoniae pneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007387	"A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." []	2027719	\N	\N	EFO	4	EFO	disease	Mycoplasma pneumoniae pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007387	"A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." []	3179120	\N	\N	EFO	5	EFO	disposition	Mycoplasma pneumoniae pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007387	"A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." []	4132754	\N	\N	EFO	6	EFO	material property	Mycoplasma pneumoniae pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007387	"A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." []	5181051	\N	\N	EFO	7	EFO	experimental factor	Mycoplasma pneumoniae pneumonia
EFO:0007388	\N	\N	"A myeloma and anemia that is located_in some people with diseases that affect the bone marrow." []	EFO:0007388	"A myeloma and anemia that is located_in some people with diseases that affect the bone marrow." []	68634	\N	\N	EFO	0	EFO	myelophthisic anemia	myelophthisic anemia
EFO:0005803	EFO:0007388	\N	"Disorders of the blood and blood forming tissues." []	EFO:0007388	"A myeloma and anemia that is located_in some people with diseases that affect the bone marrow." []	210772	\N	\N	EFO	1	EFO	hematological system disease	myelophthisic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007388	"A myeloma and anemia that is located_in some people with diseases that affect the bone marrow." []	563996	\N	\N	EFO	2	EFO	disease	myelophthisic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007388	"A myeloma and anemia that is located_in some people with diseases that affect the bone marrow." []	1145181	\N	\N	EFO	3	EFO	disposition	myelophthisic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007388	"A myeloma and anemia that is located_in some people with diseases that affect the bone marrow." []	2027721	\N	\N	EFO	4	EFO	material property	myelophthisic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007388	"A myeloma and anemia that is located_in some people with diseases that affect the bone marrow." []	3179122	\N	\N	EFO	5	EFO	experimental factor	myelophthisic anemia
EFO:0007389	\N	\N	"A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." []	EFO:0007389	"A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." []	68635	\N	\N	EFO	0	EFO	myiasis	myiasis
EFO:0001067	EFO:0007389	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007389	"A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." []	210773	\N	\N	EFO	1	EFO	parasitic infection	myiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007389	"A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." []	563997	\N	\N	EFO	2	EFO	infectious disease	myiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007389	"A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." []	1145182	\N	\N	EFO	3	EFO	disease	myiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007389	"A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." []	2027722	\N	\N	EFO	4	EFO	disposition	myiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007389	"A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." []	3179123	\N	\N	EFO	5	EFO	material property	myiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007389	"A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." []	4388604	\N	\N	EFO	6	EFO	experimental factor	myiasis
EFO:0007390	\N	\N	"A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." []	EFO:0007390	"A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." []	68636	\N	\N	EFO	0	EFO	necatoriasis	necatoriasis
EFO:0000405	EFO:0007390	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007390	"A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." []	210774	\N	\N	EFO	1	EFO	digestive system disease	necatoriasis
EFO:0001067	EFO:0007390	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007390	"A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." []	210775	\N	\N	EFO	1	EFO	parasitic infection	necatoriasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007390	"A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." []	563998	\N	\N	EFO	2	EFO	disease	necatoriasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007390	"A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." []	563999	\N	\N	EFO	2	EFO	infectious disease	necatoriasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007390	"A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." []	2027724	\N	\N	EFO	4	EFO	disposition	necatoriasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007390	"A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." []	1145184	\N	\N	EFO	3	EFO	disease	necatoriasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007390	"A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." []	2999880	\N	\N	EFO	5	EFO	material property	necatoriasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007390	"A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." []	4132755	\N	\N	EFO	6	EFO	experimental factor	necatoriasis
EFO:0007391	\N	\N	"A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms." []	EFO:0007391	"A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms." []	68637	\N	\N	EFO	0	EFO	Nematoda infectious disease	Nematoda infectious disease
EFO:0001067	EFO:0007391	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007391	"A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms." []	210776	\N	\N	EFO	1	EFO	parasitic infection	Nematoda infectious disease
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007391	"A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms." []	564000	\N	\N	EFO	2	EFO	infectious disease	Nematoda infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007391	"A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms." []	1145185	\N	\N	EFO	3	EFO	disease	Nematoda infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007391	"A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms." []	2027725	\N	\N	EFO	4	EFO	disposition	Nematoda infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007391	"A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms." []	3179125	\N	\N	EFO	5	EFO	material property	Nematoda infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007391	"A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms." []	4388605	\N	\N	EFO	6	EFO	experimental factor	Nematoda infectious disease
EFO:0007392	\N	\N	"An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." []	EFO:0007392	"An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." []	68638	\N	\N	EFO	0	EFO	nervous system cancer	nervous system cancer
EFO:0000313	EFO:0007392	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007392	"An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." []	210777	\N	\N	EFO	1	EFO	carcinoma	nervous system cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007392	"An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." []	564001	\N	\N	EFO	2	EFO	cancer	nervous system cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007392	"An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." []	564002	\N	\N	EFO	2	EFO	epithelial neoplasm	nervous system cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007392	"An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." []	1145186	\N	\N	EFO	3	EFO	neoplasm	nervous system cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007392	"An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." []	1145187	\N	\N	EFO	3	EFO	neoplasm	nervous system cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007392	"An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." []	2027726	\N	\N	EFO	4	EFO	disease	nervous system cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007392	"An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." []	3179126	\N	\N	EFO	5	EFO	disposition	nervous system cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007392	"An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." []	4388606	\N	\N	EFO	6	EFO	material property	nervous system cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007392	"An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." []	5408945	\N	\N	EFO	7	EFO	experimental factor	nervous system cancer
EFO:0007393	\N	\N	"An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion." []	EFO:0007393	"An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion." []	68639	\N	\N	EFO	0	EFO	neuroaspergillosis	neuroaspergillosis
EFO:0000540	EFO:0007393	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007393	"An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion." []	210778	\N	\N	EFO	1	EFO	immune system disease	neuroaspergillosis
EFO:0000618	EFO:0007393	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007393	"An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion." []	210779	\N	\N	EFO	1	EFO	nervous system disease	neuroaspergillosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007393	"An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion." []	564003	\N	\N	EFO	2	EFO	disease	neuroaspergillosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007393	"An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion." []	564004	\N	\N	EFO	2	EFO	disease	neuroaspergillosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007393	"An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion." []	1145188	\N	\N	EFO	3	EFO	disposition	neuroaspergillosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007393	"An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion." []	2027727	\N	\N	EFO	4	EFO	material property	neuroaspergillosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007393	"An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion." []	3179127	\N	\N	EFO	5	EFO	experimental factor	neuroaspergillosis
EFO:0007394	\N	\N	"A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." []	EFO:0007394	"A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." []	68640	\N	\N	EFO	0	EFO	neuroschistosomiasis	neuroschistosomiasis
EFO:0001067	EFO:0007394	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007394	"A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." []	210780	\N	\N	EFO	1	EFO	parasitic infection	neuroschistosomiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007394	"A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." []	564005	\N	\N	EFO	2	EFO	infectious disease	neuroschistosomiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007394	"A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." []	1145189	\N	\N	EFO	3	EFO	disease	neuroschistosomiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007394	"A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." []	2027728	\N	\N	EFO	4	EFO	disposition	neuroschistosomiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007394	"A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." []	3179128	\N	\N	EFO	5	EFO	material property	neuroschistosomiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007394	"A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." []	4388607	\N	\N	EFO	6	EFO	experimental factor	neuroschistosomiasis
EFO:0007395	\N	\N	"Newcastle disease is a contagious bird disease affecting many domestic and wild avian species; it is transmissible to humans. It was first identified in Java, Indonesia, in 1926, and in 1927, in Newcastle-upon-Tyne, England (whence it got its name). However, it may have been prevalent as early as 1898, when a disease wiped out all the domestic fowl in northwest Scotland. Its effects are most notable in domestic poultry due to their high susceptibility and the potential for severe impacts of an epizootic on the poultry industries. It is endemic to many countries." []	EFO:0007395	"Newcastle disease is a contagious bird disease affecting many domestic and wild avian species; it is transmissible to humans. It was first identified in Java, Indonesia, in 1926, and in 1927, in Newcastle-upon-Tyne, England (whence it got its name). However, it may have been prevalent as early as 1898, when a disease wiped out all the domestic fowl in northwest Scotland. Its effects are most notable in domestic poultry due to their high susceptibility and the potential for severe impacts of an epizootic on the poultry industries. It is endemic to many countries." []	68641	\N	\N	EFO	0	EFO	Newcastle disease	Newcastle disease
EFO:0000763	EFO:0007395	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007395	"Newcastle disease is a contagious bird disease affecting many domestic and wild avian species; it is transmissible to humans. It was first identified in Java, Indonesia, in 1926, and in 1927, in Newcastle-upon-Tyne, England (whence it got its name). However, it may have been prevalent as early as 1898, when a disease wiped out all the domestic fowl in northwest Scotland. Its effects are most notable in domestic poultry due to their high susceptibility and the potential for severe impacts of an epizootic on the poultry industries. It is endemic to many countries." []	210781	\N	\N	EFO	1	EFO	viral disease	Newcastle disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007395	"Newcastle disease is a contagious bird disease affecting many domestic and wild avian species; it is transmissible to humans. It was first identified in Java, Indonesia, in 1926, and in 1927, in Newcastle-upon-Tyne, England (whence it got its name). However, it may have been prevalent as early as 1898, when a disease wiped out all the domestic fowl in northwest Scotland. Its effects are most notable in domestic poultry due to their high susceptibility and the potential for severe impacts of an epizootic on the poultry industries. It is endemic to many countries." []	564006	\N	\N	EFO	2	EFO	infectious disease	Newcastle disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007395	"Newcastle disease is a contagious bird disease affecting many domestic and wild avian species; it is transmissible to humans. It was first identified in Java, Indonesia, in 1926, and in 1927, in Newcastle-upon-Tyne, England (whence it got its name). However, it may have been prevalent as early as 1898, when a disease wiped out all the domestic fowl in northwest Scotland. Its effects are most notable in domestic poultry due to their high susceptibility and the potential for severe impacts of an epizootic on the poultry industries. It is endemic to many countries." []	1145190	\N	\N	EFO	3	EFO	disease	Newcastle disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007395	"Newcastle disease is a contagious bird disease affecting many domestic and wild avian species; it is transmissible to humans. It was first identified in Java, Indonesia, in 1926, and in 1927, in Newcastle-upon-Tyne, England (whence it got its name). However, it may have been prevalent as early as 1898, when a disease wiped out all the domestic fowl in northwest Scotland. Its effects are most notable in domestic poultry due to their high susceptibility and the potential for severe impacts of an epizootic on the poultry industries. It is endemic to many countries." []	2027729	\N	\N	EFO	4	EFO	disposition	Newcastle disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007395	"Newcastle disease is a contagious bird disease affecting many domestic and wild avian species; it is transmissible to humans. It was first identified in Java, Indonesia, in 1926, and in 1927, in Newcastle-upon-Tyne, England (whence it got its name). However, it may have been prevalent as early as 1898, when a disease wiped out all the domestic fowl in northwest Scotland. Its effects are most notable in domestic poultry due to their high susceptibility and the potential for severe impacts of an epizootic on the poultry industries. It is endemic to many countries." []	3179129	\N	\N	EFO	5	EFO	material property	Newcastle disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007395	"Newcastle disease is a contagious bird disease affecting many domestic and wild avian species; it is transmissible to humans. It was first identified in Java, Indonesia, in 1926, and in 1927, in Newcastle-upon-Tyne, England (whence it got its name). However, it may have been prevalent as early as 1898, when a disease wiped out all the domestic fowl in northwest Scotland. Its effects are most notable in domestic poultry due to their high susceptibility and the potential for severe impacts of an epizootic on the poultry industries. It is endemic to many countries." []	4388608	\N	\N	EFO	6	EFO	experimental factor	Newcastle disease
EFO:0007396	\N	\N	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses." []	EFO:0007396	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses." []	68642	\N	\N	EFO	0	EFO	Nidovirales infectious disease	Nidovirales infectious disease
EFO:0000763	EFO:0007396	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007396	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses." []	210782	\N	\N	EFO	1	EFO	viral disease	Nidovirales infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007396	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses." []	564007	\N	\N	EFO	2	EFO	infectious disease	Nidovirales infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007396	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses." []	1145191	\N	\N	EFO	3	EFO	disease	Nidovirales infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007396	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses." []	2027730	\N	\N	EFO	4	EFO	disposition	Nidovirales infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007396	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses." []	3179130	\N	\N	EFO	5	EFO	material property	Nidovirales infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007396	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses." []	4388609	\N	\N	EFO	6	EFO	experimental factor	Nidovirales infectious disease
EFO:0007397	\N	\N	"An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy." []	EFO:0007397	"An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy." []	68643	\N	\N	EFO	0	EFO	nocardiosis	nocardiosis
EFO:0005741	EFO:0007397	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007397	"An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy." []	210783	\N	\N	EFO	1	EFO	infectious disease	nocardiosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007397	"An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy." []	564008	\N	\N	EFO	2	EFO	disease	nocardiosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007397	"An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy." []	1145192	\N	\N	EFO	3	EFO	disposition	nocardiosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007397	"An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy." []	2027731	\N	\N	EFO	4	EFO	material property	nocardiosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007397	"An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy." []	3179131	\N	\N	EFO	5	EFO	experimental factor	nocardiosis
EFO:0007398	\N	\N	"A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness." []	EFO:0007398	"A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness." []	68644	\N	\N	EFO	0	EFO	ocular onchocerciasis	ocular onchocerciasis
EFO:0003966	EFO:0007398	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0007398	"A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness." []	210784	\N	\N	EFO	1	EFO	eye disease	ocular onchocerciasis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007398	"A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness." []	564009	\N	\N	EFO	2	EFO	disease	ocular onchocerciasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007398	"A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness." []	1145193	\N	\N	EFO	3	EFO	disposition	ocular onchocerciasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007398	"A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness." []	2027732	\N	\N	EFO	4	EFO	material property	ocular onchocerciasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007398	"A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness." []	3179132	\N	\N	EFO	5	EFO	experimental factor	ocular onchocerciasis
EFO:0007399	\N	\N	"A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness." []	EFO:0007399	"A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness." []	68645	\N	\N	EFO	0	EFO	ocular toxoplasmosis	ocular toxoplasmosis
EFO:0003966	EFO:0007399	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0007399	"A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness." []	210785	\N	\N	EFO	1	EFO	eye disease	ocular toxoplasmosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007399	"A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness." []	564010	\N	\N	EFO	2	EFO	disease	ocular toxoplasmosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007399	"A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness." []	1145194	\N	\N	EFO	3	EFO	disposition	ocular toxoplasmosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007399	"A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness." []	2027733	\N	\N	EFO	4	EFO	material property	ocular toxoplasmosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007399	"A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness." []	3179133	\N	\N	EFO	5	EFO	experimental factor	ocular toxoplasmosis
EFO:0007400	\N	\N	"A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." []	EFO:0007400	"A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." []	68646	\N	\N	EFO	0	EFO	oesophagostomiasis	oesophagostomiasis
EFO:0000405	EFO:0007400	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007400	"A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." []	210786	\N	\N	EFO	1	EFO	digestive system disease	oesophagostomiasis
EFO:0001067	EFO:0007400	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007400	"A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." []	210787	\N	\N	EFO	1	EFO	parasitic infection	oesophagostomiasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007400	"A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." []	564011	\N	\N	EFO	2	EFO	disease	oesophagostomiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007400	"A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." []	564012	\N	\N	EFO	2	EFO	infectious disease	oesophagostomiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007400	"A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." []	2027735	\N	\N	EFO	4	EFO	disposition	oesophagostomiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007400	"A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." []	1145196	\N	\N	EFO	3	EFO	disease	oesophagostomiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007400	"A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." []	2999881	\N	\N	EFO	5	EFO	material property	oesophagostomiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007400	"A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." []	4132756	\N	\N	EFO	6	EFO	experimental factor	oesophagostomiasis
EFO:0007401	\N	\N	"A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion." []	EFO:0007401	"A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion." []	68647	\N	\N	EFO	0	EFO	oligohydramnios	oligohydramnios
EFO:0007441	EFO:0007401	\N	"a disease located in the placenta" []	EFO:0007401	"A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion." []	210788	\N	\N	EFO	1	EFO	placenta disease	oligohydramnios
EFO:0000512	EFO:0007441	\N	"any diease of the reproductive system" []	EFO:0007401	"A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion." []	564013	\N	\N	EFO	2	EFO	reproductive system disease	oligohydramnios
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007401	"A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion." []	1145197	\N	\N	EFO	3	EFO	disease	oligohydramnios
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007401	"A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion." []	2027736	\N	\N	EFO	4	EFO	disposition	oligohydramnios
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007401	"A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion." []	3179135	\N	\N	EFO	5	EFO	material property	oligohydramnios
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007401	"A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion." []	4388610	\N	\N	EFO	6	EFO	experimental factor	oligohydramnios
EFO:0007402	\N	\N	"A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy." []	EFO:0007402	"A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy." []	68648	\N	\N	EFO	0	EFO	onchocerciasis	onchocerciasis
EFO:0000701	EFO:0007402	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007402	"A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy." []	210789	\N	\N	EFO	1	EFO	skin disease	onchocerciasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007402	"A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy." []	564014	\N	\N	EFO	2	EFO	disease	onchocerciasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007402	"A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy." []	1145198	\N	\N	EFO	3	EFO	disposition	onchocerciasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007402	"A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy." []	2027737	\N	\N	EFO	4	EFO	material property	onchocerciasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007402	"A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy." []	3179136	\N	\N	EFO	5	EFO	experimental factor	onchocerciasis
EFO:0007403	\N	\N	"A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." []	EFO:0007403	"A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." []	68649	\N	\N	EFO	0	EFO	ophthalmic herpes zoster	ophthalmic herpes zoster
EFO:0006510	EFO:0007403	\N	"A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." []	EFO:0007403	"A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." []	210790	\N	\N	EFO	1	EFO	Herpes Zoster	ophthalmic herpes zoster
EFO:0006509	EFO:0006510	\N	"A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." []	EFO:0007403	"A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." []	564015	\N	\N	EFO	2	EFO	Varicella Zoster infection	ophthalmic herpes zoster
EFO:0000763	EFO:0006509	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007403	"A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." []	1145199	\N	\N	EFO	3	EFO	viral disease	ophthalmic herpes zoster
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007403	"A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." []	2027738	\N	\N	EFO	4	EFO	infectious disease	ophthalmic herpes zoster
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007403	"A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." []	3179137	\N	\N	EFO	5	EFO	disease	ophthalmic herpes zoster
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007403	"A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." []	4388611	\N	\N	EFO	6	EFO	disposition	ophthalmic herpes zoster
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007403	"A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." []	5408946	\N	\N	EFO	7	EFO	material property	ophthalmic herpes zoster
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007403	"A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." []	6147532	\N	\N	EFO	8	EFO	experimental factor	ophthalmic herpes zoster
EFO:0007404	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." []	EFO:0007404	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." []	68650	\N	\N	EFO	0	EFO	opisthorchiasis	opisthorchiasis
EFO:0001067	EFO:0007404	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007404	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." []	210791	\N	\N	EFO	1	EFO	parasitic infection	opisthorchiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007404	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." []	564016	\N	\N	EFO	2	EFO	infectious disease	opisthorchiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007404	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." []	1145200	\N	\N	EFO	3	EFO	disease	opisthorchiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007404	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." []	2027739	\N	\N	EFO	4	EFO	disposition	opisthorchiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007404	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." []	3179138	\N	\N	EFO	5	EFO	material property	opisthorchiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007404	"A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." []	4388612	\N	\N	EFO	6	EFO	experimental factor	opisthorchiasis
EFO:0007405	\N	\N	"An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision." []	EFO:0007405	"An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision." []	68651	\N	\N	EFO	0	EFO	optic neuritis	optic neuritis
EFO:0003966	EFO:0007405	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0007405	"An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision." []	210792	\N	\N	EFO	1	EFO	eye disease	optic neuritis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007405	"An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision." []	564017	\N	\N	EFO	2	EFO	disease	optic neuritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007405	"An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision." []	1145201	\N	\N	EFO	3	EFO	disposition	optic neuritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007405	"An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision." []	2027740	\N	\N	EFO	4	EFO	material property	optic neuritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007405	"An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision." []	3179139	\N	\N	EFO	5	EFO	experimental factor	optic neuritis
EFO:0007406	\N	\N	"A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes." []	EFO:0007406	"A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes." []	68652	\N	\N	EFO	0	EFO	oral candidiasis	oral candidiasis
EFO:0005741	EFO:0007406	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007406	"A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes." []	210793	\N	\N	EFO	1	EFO	infectious disease	oral candidiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007406	"A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes." []	564018	\N	\N	EFO	2	EFO	disease	oral candidiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007406	"A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes." []	1145202	\N	\N	EFO	3	EFO	disposition	oral candidiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007406	"A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes." []	2027741	\N	\N	EFO	4	EFO	material property	oral candidiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007406	"A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes." []	3179140	\N	\N	EFO	5	EFO	experimental factor	oral candidiasis
EFO:0007407	\N	\N	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	68653	\N	\N	EFO	0	EFO	oral tuberculosis	oral tuberculosis
EFO:0000524	EFO:0007407	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	210794	\N	\N	EFO	1	EFO	head disease	oral tuberculosis
EFO:0007280	EFO:0007407	\N	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	210795	\N	\N	EFO	1	EFO	gastrointestinal tuberculosis	oral tuberculosis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	564019	\N	\N	EFO	2	EFO	disease	oral tuberculosis
Orphanet:3389	EFO:0007280	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	564020	\N	\N	EFO	2	EFO	Tuberculosis	oral tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	4388613	\N	\N	EFO	6	EFO	disposition	oral tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	1145204	\N	\N	EFO	3	EFO	respiratory system disease	oral tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	1145205	\N	\N	EFO	3	EFO	bacterial disease	oral tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	5028343	\N	\N	EFO	7	EFO	material property	oral tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	2027743	\N	\N	EFO	4	EFO	disease	oral tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	2027744	\N	\N	EFO	4	EFO	infectious disease	oral tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	5817374	\N	\N	EFO	8	EFO	experimental factor	oral tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007407	"A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." []	3179143	\N	\N	EFO	5	EFO	disease	oral tuberculosis
EFO:0007408	\N	\N	"A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." []	EFO:0007408	"A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." []	68654	\N	\N	EFO	0	EFO	orbital cancer	orbital cancer
EFO:0003820	EFO:0007408	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:0007408	"A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." []	210796	\N	\N	EFO	1	EFO	bone neoplasm	orbital cancer
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007408	"A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." []	564021	\N	\N	EFO	2	EFO	neoplasm	orbital cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007408	"A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." []	1145206	\N	\N	EFO	3	EFO	disease	orbital cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007408	"A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." []	2027745	\N	\N	EFO	4	EFO	disposition	orbital cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007408	"A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." []	3179144	\N	\N	EFO	5	EFO	material property	orbital cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007408	"A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." []	4388614	\N	\N	EFO	6	EFO	experimental factor	orbital cancer
EFO:0007409	\N	\N	"An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." []	EFO:0007409	"An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." []	68655	\N	\N	EFO	0	EFO	ornithine carbamoyltransferase deficiency	ornithine carbamoyltransferase deficiency
EFO:0007531	EFO:0007409	\N	"An extrapulmonary tuberculosis that is located_in urogenital system." []	EFO:0007409	"An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." []	210797	\N	\N	EFO	1	EFO	urogenital tuberculosis	ornithine carbamoyltransferase deficiency
Orphanet:3389	EFO:0007531	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007409	"An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." []	564022	\N	\N	EFO	2	EFO	Tuberculosis	ornithine carbamoyltransferase deficiency
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007409	"An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." []	1145207	\N	\N	EFO	3	EFO	respiratory system disease	ornithine carbamoyltransferase deficiency
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007409	"An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." []	1145208	\N	\N	EFO	3	EFO	bacterial disease	ornithine carbamoyltransferase deficiency
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007409	"An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." []	2027746	\N	\N	EFO	4	EFO	disease	ornithine carbamoyltransferase deficiency
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007409	"An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." []	2027747	\N	\N	EFO	4	EFO	infectious disease	ornithine carbamoyltransferase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007409	"An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." []	4388616	\N	\N	EFO	6	EFO	disposition	ornithine carbamoyltransferase deficiency
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007409	"An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." []	3179146	\N	\N	EFO	5	EFO	disease	ornithine carbamoyltransferase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007409	"An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." []	5181052	\N	\N	EFO	7	EFO	material property	ornithine carbamoyltransferase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007409	"An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." []	5996629	\N	\N	EFO	8	EFO	experimental factor	ornithine carbamoyltransferase deficiency
EFO:0007410	\N	\N	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." []	EFO:0007410	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." []	68656	\N	\N	EFO	0	EFO	ornithosis	ornithosis
EFO:0000771	EFO:0007410	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007410	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." []	210798	\N	\N	EFO	1	EFO	bacterial disease	ornithosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007410	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." []	564023	\N	\N	EFO	2	EFO	infectious disease	ornithosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007410	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." []	1145209	\N	\N	EFO	3	EFO	disease	ornithosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007410	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." []	2027748	\N	\N	EFO	4	EFO	disposition	ornithosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007410	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." []	3179147	\N	\N	EFO	5	EFO	material property	ornithosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007410	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." []	4388617	\N	\N	EFO	6	EFO	experimental factor	ornithosis
EFO:0007411	\N	\N	"A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites." []	EFO:0007411	"A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites." []	68657	\N	\N	EFO	0	EFO	Orthomyxoviridae infectious disease	Orthomyxoviridae infectious disease
EFO:0000763	EFO:0007411	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007411	"A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites." []	210799	\N	\N	EFO	1	EFO	viral disease	Orthomyxoviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007411	"A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites." []	564024	\N	\N	EFO	2	EFO	infectious disease	Orthomyxoviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007411	"A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites." []	1145210	\N	\N	EFO	3	EFO	disease	Orthomyxoviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007411	"A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites." []	2027749	\N	\N	EFO	4	EFO	disposition	Orthomyxoviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007411	"A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites." []	3179148	\N	\N	EFO	5	EFO	material property	Orthomyxoviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007411	"A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites." []	4388618	\N	\N	EFO	6	EFO	experimental factor	Orthomyxoviridae infectious disease
EFO:0007412	\N	\N	"A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma." []	EFO:0007412	"A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma." []	68658	\N	\N	EFO	0	EFO	ossifying fibroma	ossifying fibroma
EFO:0003820	EFO:0007412	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:0007412	"A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma." []	210800	\N	\N	EFO	1	EFO	bone neoplasm	ossifying fibroma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007412	"A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma." []	564025	\N	\N	EFO	2	EFO	neoplasm	ossifying fibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007412	"A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma." []	1145211	\N	\N	EFO	3	EFO	disease	ossifying fibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007412	"A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma." []	2027750	\N	\N	EFO	4	EFO	disposition	ossifying fibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007412	"A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma." []	3179149	\N	\N	EFO	5	EFO	material property	ossifying fibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007412	"A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma." []	4388619	\N	\N	EFO	6	EFO	experimental factor	ossifying fibroma
EFO:0007413	\N	\N	"A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone." []	EFO:0007413	"A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone." []	68659	\N	\N	EFO	0	EFO	osteitis fibrosa	osteitis fibrosa
EFO:0004260	EFO:0007413	\N	"Diseases of BONES." []	EFO:0007413	"A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone." []	210801	\N	\N	EFO	1	EFO	bone disease	osteitis fibrosa
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0007413	"A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone." []	564026	\N	\N	EFO	2	EFO	skeletal system disease	osteitis fibrosa
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007413	"A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone." []	1145212	\N	\N	EFO	3	EFO	disease	osteitis fibrosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007413	"A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone." []	2027751	\N	\N	EFO	4	EFO	disposition	osteitis fibrosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007413	"A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone." []	3179150	\N	\N	EFO	5	EFO	material property	osteitis fibrosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007413	"A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone." []	4388620	\N	\N	EFO	6	EFO	experimental factor	osteitis fibrosa
EFO:0007414	\N	\N	"A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia." []	EFO:0007414	"A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia." []	68660	\N	\N	EFO	0	EFO	ostertagiasis	ostertagiasis
EFO:0001067	EFO:0007414	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007414	"A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia." []	210802	\N	\N	EFO	1	EFO	parasitic infection	ostertagiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007414	"A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia." []	564027	\N	\N	EFO	2	EFO	infectious disease	ostertagiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007414	"A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia." []	1145213	\N	\N	EFO	3	EFO	disease	ostertagiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007414	"A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia." []	2027752	\N	\N	EFO	4	EFO	disposition	ostertagiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007414	"A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia." []	3179151	\N	\N	EFO	5	EFO	material property	ostertagiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007414	"A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia." []	4388621	\N	\N	EFO	6	EFO	experimental factor	ostertagiasis
EFO:0007415	\N	\N	"A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." []	EFO:0007415	"A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." []	68661	\N	\N	EFO	0	EFO	otitis media with effusion	otitis media with effusion
EFO:0004992	EFO:0007415	\N	"An acute or chronic inflammatory process affecting the middle ear." []	EFO:0007415	"A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." []	210803	\N	\N	EFO	1	EFO	Otitis media	otitis media with effusion
EFO:0000524	EFO:0004992	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007415	"A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." []	564028	\N	\N	EFO	2	EFO	head disease	otitis media with effusion
EFO:1001455	EFO:0004992	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:0007415	"A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." []	564029	\N	\N	EFO	2	EFO	auditory system disease	otitis media with effusion
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007415	"A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." []	1145214	\N	\N	EFO	3	EFO	disease	otitis media with effusion
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0007415	"A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." []	1145215	\N	\N	EFO	3	EFO	sensory system disease	otitis media with effusion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007415	"A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." []	4388623	\N	\N	EFO	6	EFO	disposition	otitis media with effusion
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007415	"A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." []	2027754	\N	\N	EFO	4	EFO	nervous system disease	otitis media with effusion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007415	"A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." []	5059371	\N	\N	EFO	7	EFO	material property	otitis media with effusion
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007415	"A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." []	3179153	\N	\N	EFO	5	EFO	disease	otitis media with effusion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007415	"A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." []	5876548	\N	\N	EFO	8	EFO	experimental factor	otitis media with effusion
EFO:0007416	\N	\N	"An islet cell tumor that has_material_basis_in epithelial cells." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	68662	\N	\N	EFO	0	EFO	pancreatic endocrine carcinoma	pancreatic endocrine carcinoma
EFO:0002618	EFO:0007416	\N	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	210804	\N	\N	EFO	1	EFO	pancreatic carcinoma	pancreatic endocrine carcinoma
EFO:0000313	EFO:0002618	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	564030	\N	\N	EFO	2	EFO	carcinoma	pancreatic endocrine carcinoma
EFO:0003860	EFO:0002618	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	564031	\N	\N	EFO	2	EFO	pancreatic neoplasm	pancreatic endocrine carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	1145216	\N	\N	EFO	3	EFO	cancer	pancreatic endocrine carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	1145217	\N	\N	EFO	3	EFO	epithelial neoplasm	pancreatic endocrine carcinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	1145218	\N	\N	EFO	3	EFO	endocrine neoplasm	pancreatic endocrine carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	2027755	\N	\N	EFO	4	EFO	neoplasm	pancreatic endocrine carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	2027756	\N	\N	EFO	4	EFO	neoplasm	pancreatic endocrine carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	2027757	\N	\N	EFO	4	EFO	neoplasm	pancreatic endocrine carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	2027758	\N	\N	EFO	4	EFO	endocrine system disease	pancreatic endocrine carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	3179154	\N	\N	EFO	5	EFO	disease	pancreatic endocrine carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	3179155	\N	\N	EFO	5	EFO	disease	pancreatic endocrine carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	4388624	\N	\N	EFO	6	EFO	disposition	pancreatic endocrine carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	5408948	\N	\N	EFO	7	EFO	material property	pancreatic endocrine carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007416	"An islet cell tumor that has_material_basis_in epithelial cells." []	6147533	\N	\N	EFO	8	EFO	experimental factor	pancreatic endocrine carcinoma
EFO:0007417	\N	\N	"A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis." []	EFO:0007417	"A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis." []	68663	\N	\N	EFO	0	EFO	paracoccidioidomycosis	paracoccidioidomycosis
EFO:0005741	EFO:0007417	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007417	"A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis." []	210805	\N	\N	EFO	1	EFO	infectious disease	paracoccidioidomycosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007417	"A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis." []	564032	\N	\N	EFO	2	EFO	disease	paracoccidioidomycosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007417	"A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis." []	1145219	\N	\N	EFO	3	EFO	disposition	paracoccidioidomycosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007417	"A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis." []	2027759	\N	\N	EFO	4	EFO	material property	paracoccidioidomycosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007417	"A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis." []	3179156	\N	\N	EFO	5	EFO	experimental factor	paracoccidioidomycosis
EFO:0007418	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." []	EFO:0007418	"A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." []	68664	\N	\N	EFO	0	EFO	paragonimiasis	paragonimiasis
EFO:0001067	EFO:0007418	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007418	"A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." []	210806	\N	\N	EFO	1	EFO	parasitic infection	paragonimiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007418	"A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." []	564033	\N	\N	EFO	2	EFO	infectious disease	paragonimiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007418	"A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." []	1145220	\N	\N	EFO	3	EFO	disease	paragonimiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007418	"A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." []	2027760	\N	\N	EFO	4	EFO	disposition	paragonimiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007418	"A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." []	3179157	\N	\N	EFO	5	EFO	material property	paragonimiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007418	"A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." []	4388625	\N	\N	EFO	6	EFO	experimental factor	paragonimiasis
EFO:0007419	\N	\N	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses." []	EFO:0007419	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses." []	68665	\N	\N	EFO	0	EFO	Paramyxoviridae infectious disease	Paramyxoviridae infectious disease
EFO:0000763	EFO:0007419	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007419	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses." []	210807	\N	\N	EFO	1	EFO	viral disease	Paramyxoviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007419	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses." []	564034	\N	\N	EFO	2	EFO	infectious disease	Paramyxoviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007419	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses." []	1145221	\N	\N	EFO	3	EFO	disease	Paramyxoviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007419	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses." []	2027761	\N	\N	EFO	4	EFO	disposition	Paramyxoviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007419	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses." []	3179158	\N	\N	EFO	5	EFO	material property	Paramyxoviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007419	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses." []	4388626	\N	\N	EFO	6	EFO	experimental factor	Paramyxoviridae infectious disease
EFO:0007420	\N	\N	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." []	EFO:0007420	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." []	68666	\N	\N	EFO	0	EFO	paratyphoid fever	paratyphoid fever
EFO:0000405	EFO:0007420	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007420	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." []	210808	\N	\N	EFO	1	EFO	digestive system disease	paratyphoid fever
EFO:0000771	EFO:0007420	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007420	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." []	210809	\N	\N	EFO	1	EFO	bacterial disease	paratyphoid fever
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007420	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." []	564035	\N	\N	EFO	2	EFO	disease	paratyphoid fever
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007420	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." []	564036	\N	\N	EFO	2	EFO	infectious disease	paratyphoid fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007420	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." []	2027763	\N	\N	EFO	4	EFO	disposition	paratyphoid fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007420	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." []	1145223	\N	\N	EFO	3	EFO	disease	paratyphoid fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007420	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." []	2999882	\N	\N	EFO	5	EFO	material property	paratyphoid fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007420	"A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." []	4132757	\N	\N	EFO	6	EFO	experimental factor	paratyphoid fever
EFO:0007421	\N	\N	"Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate." []	EFO:0007421	"Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate." []	68667	\N	\N	EFO	0	EFO	paronychia	paronychia
EFO:0000701	EFO:0007421	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007421	"Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate." []	210810	\N	\N	EFO	1	EFO	skin disease	paronychia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007421	"Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate." []	564037	\N	\N	EFO	2	EFO	disease	paronychia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007421	"Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate." []	1145224	\N	\N	EFO	3	EFO	disposition	paronychia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007421	"Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate." []	2027764	\N	\N	EFO	4	EFO	material property	paronychia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007421	"Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate." []	3179160	\N	\N	EFO	5	EFO	experimental factor	paronychia
EFO:0007422	\N	\N	"a disease in parotid gland" []	EFO:0007422	"a disease in parotid gland" []	68668	\N	\N	EFO	0	EFO	parotid disease	parotid disease
EFO:0000405	EFO:0007422	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007422	"a disease in parotid gland" []	210811	\N	\N	EFO	1	EFO	digestive system disease	parotid disease
EFO:0000524	EFO:0007422	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007422	"a disease in parotid gland" []	210812	\N	\N	EFO	1	EFO	head disease	parotid disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007422	"a disease in parotid gland" []	564038	\N	\N	EFO	2	EFO	disease	parotid disease
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007422	"a disease in parotid gland" []	564039	\N	\N	EFO	2	EFO	disease	parotid disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007422	"a disease in parotid gland" []	1145225	\N	\N	EFO	3	EFO	disposition	parotid disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007422	"a disease in parotid gland" []	2027765	\N	\N	EFO	4	EFO	material property	parotid disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007422	"a disease in parotid gland" []	3179161	\N	\N	EFO	5	EFO	experimental factor	parotid disease
EFO:0007423	\N	\N	"A parotid disease characterized by the inflammation of one or both parotid glands." []	EFO:0007423	"A parotid disease characterized by the inflammation of one or both parotid glands." []	68669	\N	\N	EFO	0	EFO	parotitis	parotitis
EFO:0007422	EFO:0007423	\N	"a disease in parotid gland" []	EFO:0007423	"A parotid disease characterized by the inflammation of one or both parotid glands." []	210813	\N	\N	EFO	1	EFO	parotid disease	parotitis
EFO:0000405	EFO:0007422	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007423	"A parotid disease characterized by the inflammation of one or both parotid glands." []	564040	\N	\N	EFO	2	EFO	digestive system disease	parotitis
EFO:0000524	EFO:0007422	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007423	"A parotid disease characterized by the inflammation of one or both parotid glands." []	564041	\N	\N	EFO	2	EFO	head disease	parotitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007423	"A parotid disease characterized by the inflammation of one or both parotid glands." []	1145226	\N	\N	EFO	3	EFO	disease	parotitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007423	"A parotid disease characterized by the inflammation of one or both parotid glands." []	1145227	\N	\N	EFO	3	EFO	disease	parotitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007423	"A parotid disease characterized by the inflammation of one or both parotid glands." []	2027766	\N	\N	EFO	4	EFO	disposition	parotitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007423	"A parotid disease characterized by the inflammation of one or both parotid glands." []	3179162	\N	\N	EFO	5	EFO	material property	parotitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007423	"A parotid disease characterized by the inflammation of one or both parotid glands." []	4388627	\N	\N	EFO	6	EFO	experimental factor	parotitis
EFO:0007424	\N	\N	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." []	EFO:0007424	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." []	68670	\N	\N	EFO	0	EFO	pasteurellosis	pasteurellosis
EFO:0000771	EFO:0007424	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007424	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." []	210814	\N	\N	EFO	1	EFO	bacterial disease	pasteurellosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007424	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." []	564042	\N	\N	EFO	2	EFO	infectious disease	pasteurellosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007424	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." []	1145228	\N	\N	EFO	3	EFO	disease	pasteurellosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007424	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." []	2027767	\N	\N	EFO	4	EFO	disposition	pasteurellosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007424	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." []	3179163	\N	\N	EFO	5	EFO	material property	pasteurellosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007424	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." []	4388628	\N	\N	EFO	6	EFO	experimental factor	pasteurellosis
EFO:0007425	\N	\N	"A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms." []	EFO:0007425	"A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms." []	68671	\N	\N	EFO	0	EFO	peanut allergic reaction	peanut allergic reaction
EFO:1001890	EFO:0007425	\N	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	EFO:0007425	"A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms." []	210815	\N	\N	EFO	1	EFO	food allergy	peanut allergic reaction
EFO:0003785	EFO:1001890	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0007425	"A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms." []	564043	\N	\N	EFO	2	EFO	allergy	peanut allergic reaction
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007425	"A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms." []	1145229	\N	\N	EFO	3	EFO	immune system disease	peanut allergic reaction
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007425	"A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms." []	2027768	\N	\N	EFO	4	EFO	disease	peanut allergic reaction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007425	"A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms." []	3179164	\N	\N	EFO	5	EFO	disposition	peanut allergic reaction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007425	"A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms." []	4388629	\N	\N	EFO	6	EFO	material property	peanut allergic reaction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007425	"A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms." []	5408949	\N	\N	EFO	7	EFO	experimental factor	peanut allergic reaction
EFO:0007426	\N	\N	"An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." []	EFO:0007426	"An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." []	68672	\N	\N	EFO	0	EFO	pericardial tuberculosis	pericardial tuberculosis
Orphanet:3389	EFO:0007426	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007426	"An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." []	210816	\N	\N	EFO	1	EFO	Tuberculosis	pericardial tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007426	"An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." []	564044	\N	\N	EFO	2	EFO	respiratory system disease	pericardial tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007426	"An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." []	564045	\N	\N	EFO	2	EFO	bacterial disease	pericardial tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007426	"An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." []	1145230	\N	\N	EFO	3	EFO	disease	pericardial tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007426	"An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." []	1145231	\N	\N	EFO	3	EFO	infectious disease	pericardial tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007426	"An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." []	3179166	\N	\N	EFO	5	EFO	disposition	pericardial tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007426	"An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." []	2027770	\N	\N	EFO	4	EFO	disease	pericardial tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007426	"An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." []	4132758	\N	\N	EFO	6	EFO	material property	pericardial tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007426	"An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." []	5181053	\N	\N	EFO	7	EFO	experimental factor	pericardial tuberculosis
EFO:0007427	\N	\N	"A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." []	EFO:0007427	"A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." []	68673	\N	\N	EFO	0	EFO	pericarditis	pericarditis
EFO:0003777	EFO:0007427	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0007427	"A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." []	210817	\N	\N	EFO	1	EFO	heart disease	pericarditis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007427	"A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." []	564046	\N	\N	EFO	2	EFO	cardiovascular disease	pericarditis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007427	"A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." []	1145232	\N	\N	EFO	3	EFO	disease	pericarditis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007427	"A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." []	2027771	\N	\N	EFO	4	EFO	disposition	pericarditis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007427	"A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." []	3179167	\N	\N	EFO	5	EFO	material property	pericarditis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007427	"A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." []	4388631	\N	\N	EFO	6	EFO	experimental factor	pericarditis
EFO:0007428	\N	\N	"A sleep disorder that involves involuntary limb movement during sleep." []	EFO:0007428	"A sleep disorder that involves involuntary limb movement during sleep." []	68674	\N	\N	EFO	0	EFO	periodic limb movement disorder	periodic limb movement disorder
EFO:0004280	EFO:0007428	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	EFO:0007428	"A sleep disorder that involves involuntary limb movement during sleep." []	210818	\N	\N	EFO	1	EFO	movement disorder	periodic limb movement disorder
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007428	"A sleep disorder that involves involuntary limb movement during sleep." []	564047	\N	\N	EFO	2	EFO	nervous system disease	periodic limb movement disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007428	"A sleep disorder that involves involuntary limb movement during sleep." []	1145233	\N	\N	EFO	3	EFO	disease	periodic limb movement disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007428	"A sleep disorder that involves involuntary limb movement during sleep." []	2027772	\N	\N	EFO	4	EFO	disposition	periodic limb movement disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007428	"A sleep disorder that involves involuntary limb movement during sleep." []	3179168	\N	\N	EFO	5	EFO	material property	periodic limb movement disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007428	"A sleep disorder that involves involuntary limb movement during sleep." []	4388632	\N	\N	EFO	6	EFO	experimental factor	periodic limb movement disorder
EFO:0007429	\N	\N	"A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \\\\hot potato voice\\\\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.\\"" []	EFO:0007429	"A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \\\\hot potato voice\\\\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.\\"" []	68675	\N	\N	EFO	0	EFO	peritonsillar abscess	peritonsillar abscess
EFO:0000405	EFO:0007429	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007429	"A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \\\\hot potato voice\\\\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.\\"" []	210819	\N	\N	EFO	1	EFO	digestive system disease	peritonsillar abscess
EFO:0000684	EFO:0007429	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007429	"A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \\\\hot potato voice\\\\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.\\"" []	210820	\N	\N	EFO	1	EFO	respiratory system disease	peritonsillar abscess
EFO:0000771	EFO:0007429	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007429	"A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \\\\hot potato voice\\\\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.\\"" []	210821	\N	\N	EFO	1	EFO	bacterial disease	peritonsillar abscess
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007429	"A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \\\\hot potato voice\\\\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.\\"" []	564048	\N	\N	EFO	2	EFO	disease	peritonsillar abscess
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007429	"A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \\\\hot potato voice\\\\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.\\"" []	564049	\N	\N	EFO	2	EFO	disease	peritonsillar abscess
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007429	"A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \\\\hot potato voice\\\\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.\\"" []	564050	\N	\N	EFO	2	EFO	infectious disease	peritonsillar abscess
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007429	"A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \\\\hot potato voice\\\\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.\\"" []	2027774	\N	\N	EFO	4	EFO	disposition	peritonsillar abscess
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007429	"A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \\\\hot potato voice\\\\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.\\"" []	1145235	\N	\N	EFO	3	EFO	disease	peritonsillar abscess
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007429	"A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \\\\hot potato voice\\\\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.\\"" []	2999883	\N	\N	EFO	5	EFO	material property	peritonsillar abscess
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007429	"A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \\\\hot potato voice\\\\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.\\"" []	4132759	\N	\N	EFO	6	EFO	experimental factor	peritonsillar abscess
EFO:0007430	\N	\N	"A syndrome affecting returning military veterans and civilian workers of the Gulf War." []	EFO:0007430	"A syndrome affecting returning military veterans and civilian workers of the Gulf War." []	68676	\N	\N	EFO	0	EFO	persian gulf syndrome	persian gulf syndrome
EFO:0000408	EFO:0007430	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007430	"A syndrome affecting returning military veterans and civilian workers of the Gulf War." []	210822	\N	\N	EFO	1	EFO	disease	persian gulf syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007430	"A syndrome affecting returning military veterans and civilian workers of the Gulf War." []	564051	\N	\N	EFO	2	EFO	disposition	persian gulf syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007430	"A syndrome affecting returning military veterans and civilian workers of the Gulf War." []	1145236	\N	\N	EFO	3	EFO	material property	persian gulf syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007430	"A syndrome affecting returning military veterans and civilian workers of the Gulf War." []	2027775	\N	\N	EFO	4	EFO	experimental factor	persian gulf syndrome
EFO:0007431	\N	\N	"A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate." []	EFO:0007431	"A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate." []	68677	\N	\N	EFO	0	EFO	peste des petits ruminants infectious disease	peste des petits ruminants infectious disease
EFO:0000763	EFO:0007431	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007431	"A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate." []	210823	\N	\N	EFO	1	EFO	viral disease	peste des petits ruminants infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007431	"A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate." []	564052	\N	\N	EFO	2	EFO	infectious disease	peste des petits ruminants infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007431	"A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate." []	1145237	\N	\N	EFO	3	EFO	disease	peste des petits ruminants infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007431	"A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate." []	2027776	\N	\N	EFO	4	EFO	disposition	peste des petits ruminants infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007431	"A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate." []	3179170	\N	\N	EFO	5	EFO	material property	peste des petits ruminants infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007431	"A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate." []	4388633	\N	\N	EFO	6	EFO	experimental factor	peste des petits ruminants infectious disease
EFO:0007432	\N	\N	"A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder." []	EFO:0007432	"A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder." []	68678	\N	\N	EFO	0	EFO	Pestivirus infectious disease	Pestivirus infectious disease
EFO:0000763	EFO:0007432	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007432	"A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder." []	210824	\N	\N	EFO	1	EFO	viral disease	Pestivirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007432	"A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder." []	564053	\N	\N	EFO	2	EFO	infectious disease	Pestivirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007432	"A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder." []	1145238	\N	\N	EFO	3	EFO	disease	Pestivirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007432	"A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder." []	2027777	\N	\N	EFO	4	EFO	disposition	Pestivirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007432	"A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder." []	3179171	\N	\N	EFO	5	EFO	material property	Pestivirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007432	"A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder." []	4388634	\N	\N	EFO	6	EFO	experimental factor	Pestivirus infectious disease
EFO:0007433	\N	\N	"A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection." []	EFO:0007433	"A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection." []	68679	\N	\N	EFO	0	EFO	phagocyte bactericidal dysfunction	phagocyte bactericidal dysfunction
EFO:0000540	EFO:0007433	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007433	"A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection." []	210825	\N	\N	EFO	1	EFO	immune system disease	phagocyte bactericidal dysfunction
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007433	"A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection." []	564054	\N	\N	EFO	2	EFO	disease	phagocyte bactericidal dysfunction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007433	"A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection." []	1145239	\N	\N	EFO	3	EFO	disposition	phagocyte bactericidal dysfunction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007433	"A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection." []	2027778	\N	\N	EFO	4	EFO	material property	phagocyte bactericidal dysfunction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007433	"A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection." []	3179172	\N	\N	EFO	5	EFO	experimental factor	phagocyte bactericidal dysfunction
EFO:0007434	\N	\N	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	68680	\N	\N	EFO	0	EFO	pharyngoconjunctival fever	pharyngoconjunctival fever
EFO:0000405	EFO:0007434	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	210826	\N	\N	EFO	1	EFO	digestive system disease	pharyngoconjunctival fever
EFO:0000524	EFO:0007434	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	210827	\N	\N	EFO	1	EFO	head disease	pharyngoconjunctival fever
EFO:0000684	EFO:0007434	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	210828	\N	\N	EFO	1	EFO	respiratory system disease	pharyngoconjunctival fever
EFO:0000763	EFO:0007434	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	210829	\N	\N	EFO	1	EFO	viral disease	pharyngoconjunctival fever
EFO:0003966	EFO:0007434	\N	"An eye and adnexa disease that is located in the eye." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	210830	\N	\N	EFO	1	EFO	eye disease	pharyngoconjunctival fever
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	564055	\N	\N	EFO	2	EFO	disease	pharyngoconjunctival fever
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	564056	\N	\N	EFO	2	EFO	disease	pharyngoconjunctival fever
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	564057	\N	\N	EFO	2	EFO	disease	pharyngoconjunctival fever
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	564058	\N	\N	EFO	2	EFO	infectious disease	pharyngoconjunctival fever
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	564059	\N	\N	EFO	2	EFO	disease	pharyngoconjunctival fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	2027780	\N	\N	EFO	4	EFO	disposition	pharyngoconjunctival fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	1145241	\N	\N	EFO	3	EFO	disease	pharyngoconjunctival fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	2999884	\N	\N	EFO	5	EFO	material property	pharyngoconjunctival fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007434	"A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." []	4132760	\N	\N	EFO	6	EFO	experimental factor	pharyngoconjunctival fever
EFO:0007436	\N	\N	"A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." []	EFO:0007436	"A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." []	68681	\N	\N	EFO	0	EFO	phencyclidine abuse	phencyclidine abuse
EFO:0003890	EFO:0007436	\N	"Disorders related to substance abuse, the side effects of a medication, or toxin exposure." []	EFO:0007436	"A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." []	210831	\N	\N	EFO	1	EFO	drug dependence	phencyclidine abuse
EFO:0000677	EFO:0003890	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0007436	"A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." []	564060	\N	\N	EFO	2	EFO	mental or behavioural disorder	phencyclidine abuse
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0007436	"A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." []	1145242	\N	\N	EFO	3	EFO	brain disease	phencyclidine abuse
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007436	"A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." []	2027781	\N	\N	EFO	4	EFO	nervous system disease	phencyclidine abuse
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007436	"A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." []	3179174	\N	\N	EFO	5	EFO	disease	phencyclidine abuse
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007436	"A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." []	4388635	\N	\N	EFO	6	EFO	disposition	phencyclidine abuse
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007436	"A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." []	5408950	\N	\N	EFO	7	EFO	material property	phencyclidine abuse
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007436	"A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." []	6147534	\N	\N	EFO	8	EFO	experimental factor	phencyclidine abuse
EFO:0007437	\N	\N	"A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia." []	EFO:0007437	"A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia." []	68682	\N	\N	EFO	0	EFO	Phlebotomus fever	Phlebotomus fever
EFO:0000763	EFO:0007437	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007437	"A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia." []	210832	\N	\N	EFO	1	EFO	viral disease	Phlebotomus fever
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007437	"A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia." []	564061	\N	\N	EFO	2	EFO	infectious disease	Phlebotomus fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007437	"A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia." []	1145243	\N	\N	EFO	3	EFO	disease	Phlebotomus fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007437	"A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia." []	2027782	\N	\N	EFO	4	EFO	disposition	Phlebotomus fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007437	"A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia." []	3179175	\N	\N	EFO	5	EFO	material property	Phlebotomus fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007437	"A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia." []	4388636	\N	\N	EFO	6	EFO	experimental factor	Phlebotomus fever
EFO:0007438	\N	\N	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses." []	EFO:0007438	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses." []	68683	\N	\N	EFO	0	EFO	Picornaviridae infectious disease	Picornaviridae infectious disease
EFO:0000763	EFO:0007438	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007438	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses." []	210833	\N	\N	EFO	1	EFO	viral disease	Picornaviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007438	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses." []	564062	\N	\N	EFO	2	EFO	infectious disease	Picornaviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007438	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses." []	1145244	\N	\N	EFO	3	EFO	disease	Picornaviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007438	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses." []	2027783	\N	\N	EFO	4	EFO	disposition	Picornaviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007438	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses." []	3179176	\N	\N	EFO	5	EFO	material property	Picornaviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007438	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses." []	4388637	\N	\N	EFO	6	EFO	experimental factor	Picornaviridae infectious disease
EFO:0007439	\N	\N	"A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales." []	EFO:0007439	"A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales." []	68684	\N	\N	EFO	0	EFO	pityriasis versicolor	pityriasis versicolor
EFO:0005741	EFO:0007439	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007439	"A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales." []	210834	\N	\N	EFO	1	EFO	infectious disease	pityriasis versicolor
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007439	"A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales." []	564063	\N	\N	EFO	2	EFO	disease	pityriasis versicolor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007439	"A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales." []	1145245	\N	\N	EFO	3	EFO	disposition	pityriasis versicolor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007439	"A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales." []	2027784	\N	\N	EFO	4	EFO	material property	pityriasis versicolor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007439	"A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales." []	3179177	\N	\N	EFO	5	EFO	experimental factor	pityriasis versicolor
EFO:0007440	\N	\N	"A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium." []	EFO:0007440	"A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium." []	68685	\N	\N	EFO	0	EFO	placenta accreta	placenta accreta
EFO:0007441	EFO:0007440	\N	"a disease located in the placenta" []	EFO:0007440	"A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium." []	210835	\N	\N	EFO	1	EFO	placenta disease	placenta accreta
EFO:0000512	EFO:0007441	\N	"any diease of the reproductive system" []	EFO:0007440	"A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium." []	564064	\N	\N	EFO	2	EFO	reproductive system disease	placenta accreta
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007440	"A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium." []	1145246	\N	\N	EFO	3	EFO	disease	placenta accreta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007440	"A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium." []	2027785	\N	\N	EFO	4	EFO	disposition	placenta accreta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007440	"A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium." []	3179178	\N	\N	EFO	5	EFO	material property	placenta accreta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007440	"A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium." []	4388638	\N	\N	EFO	6	EFO	experimental factor	placenta accreta
EFO:0007441	\N	\N	"a disease located in the placenta" []	EFO:0007441	"a disease located in the placenta" []	68686	\N	\N	EFO	0	EFO	placenta disease	placenta disease
EFO:0000512	EFO:0007441	\N	"any diease of the reproductive system" []	EFO:0007441	"a disease located in the placenta" []	210836	\N	\N	EFO	1	EFO	reproductive system disease	placenta disease
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007441	"a disease located in the placenta" []	564065	\N	\N	EFO	2	EFO	disease	placenta disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007441	"a disease located in the placenta" []	1145247	\N	\N	EFO	3	EFO	disposition	placenta disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007441	"a disease located in the placenta" []	2027786	\N	\N	EFO	4	EFO	material property	placenta disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007441	"a disease located in the placenta" []	3179179	\N	\N	EFO	5	EFO	experimental factor	placenta disease
EFO:0007442	\N	\N	"A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." []	EFO:0007442	"A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." []	68687	\N	\N	EFO	0	EFO	placenta praevia	placenta praevia
EFO:0007441	EFO:0007442	\N	"a disease located in the placenta" []	EFO:0007442	"A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." []	210837	\N	\N	EFO	1	EFO	placenta disease	placenta praevia
EFO:0000512	EFO:0007441	\N	"any diease of the reproductive system" []	EFO:0007442	"A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." []	564066	\N	\N	EFO	2	EFO	reproductive system disease	placenta praevia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007442	"A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." []	1145248	\N	\N	EFO	3	EFO	disease	placenta praevia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007442	"A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." []	2027787	\N	\N	EFO	4	EFO	disposition	placenta praevia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007442	"A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." []	3179180	\N	\N	EFO	5	EFO	material property	placenta praevia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007442	"A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." []	4388639	\N	\N	EFO	6	EFO	experimental factor	placenta praevia
EFO:0007443	\N	\N	"A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." []	EFO:0007443	"A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." []	68688	\N	\N	EFO	0	EFO	placental insufficiency	placental insufficiency
EFO:0007441	EFO:0007443	\N	"a disease located in the placenta" []	EFO:0007443	"A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." []	210838	\N	\N	EFO	1	EFO	placenta disease	placental insufficiency
EFO:0000512	EFO:0007441	\N	"any diease of the reproductive system" []	EFO:0007443	"A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." []	564067	\N	\N	EFO	2	EFO	reproductive system disease	placental insufficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007443	"A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." []	1145249	\N	\N	EFO	3	EFO	disease	placental insufficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007443	"A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." []	2027788	\N	\N	EFO	4	EFO	disposition	placental insufficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007443	"A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." []	3179181	\N	\N	EFO	5	EFO	material property	placental insufficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007443	"A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." []	4388640	\N	\N	EFO	6	EFO	experimental factor	placental insufficiency
EFO:0007444	\N	\N	"A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." []	EFO:0007444	"A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." []	68689	\N	\N	EFO	0	EFO	Plasmodium falciparum malaria	Plasmodium falciparum malaria
EFO:0001068	EFO:0007444	\N	"Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." []	EFO:0007444	"A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." []	210839	\N	\N	EFO	1	EFO	malaria	Plasmodium falciparum malaria
EFO:0001067	EFO:0001068	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007444	"A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." []	564068	\N	\N	EFO	2	EFO	parasitic infection	Plasmodium falciparum malaria
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007444	"A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." []	1145250	\N	\N	EFO	3	EFO	infectious disease	Plasmodium falciparum malaria
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007444	"A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." []	2027789	\N	\N	EFO	4	EFO	disease	Plasmodium falciparum malaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007444	"A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." []	3179182	\N	\N	EFO	5	EFO	disposition	Plasmodium falciparum malaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007444	"A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." []	4388641	\N	\N	EFO	6	EFO	material property	Plasmodium falciparum malaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007444	"A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." []	5408951	\N	\N	EFO	7	EFO	experimental factor	Plasmodium falciparum malaria
EFO:0007445	\N	\N	"A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." []	EFO:0007445	"A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." []	68690	\N	\N	EFO	0	EFO	Plasmodium vivax malaria	Plasmodium vivax malaria
EFO:0001068	EFO:0007445	\N	"Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa." []	EFO:0007445	"A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." []	210840	\N	\N	EFO	1	EFO	malaria	Plasmodium vivax malaria
EFO:0001067	EFO:0001068	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007445	"A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." []	564069	\N	\N	EFO	2	EFO	parasitic infection	Plasmodium vivax malaria
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007445	"A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." []	1145251	\N	\N	EFO	3	EFO	infectious disease	Plasmodium vivax malaria
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007445	"A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." []	2027790	\N	\N	EFO	4	EFO	disease	Plasmodium vivax malaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007445	"A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." []	3179183	\N	\N	EFO	5	EFO	disposition	Plasmodium vivax malaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007445	"A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." []	4388642	\N	\N	EFO	6	EFO	material property	Plasmodium vivax malaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007445	"A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." []	5408952	\N	\N	EFO	7	EFO	experimental factor	Plasmodium vivax malaria
EFO:0007446	\N	\N	"An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." []	EFO:0007446	"An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." []	68691	\N	\N	EFO	0	EFO	pleural tuberculosis	pleural tuberculosis
Orphanet:3389	EFO:0007446	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007446	"An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." []	210841	\N	\N	EFO	1	EFO	Tuberculosis	pleural tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007446	"An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." []	564070	\N	\N	EFO	2	EFO	respiratory system disease	pleural tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007446	"An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." []	564071	\N	\N	EFO	2	EFO	bacterial disease	pleural tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007446	"An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." []	1145252	\N	\N	EFO	3	EFO	disease	pleural tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007446	"An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." []	1145253	\N	\N	EFO	3	EFO	infectious disease	pleural tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007446	"An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." []	3179185	\N	\N	EFO	5	EFO	disposition	pleural tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007446	"An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." []	2027792	\N	\N	EFO	4	EFO	disease	pleural tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007446	"An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." []	4132761	\N	\N	EFO	6	EFO	material property	pleural tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007446	"An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." []	5181054	\N	\N	EFO	7	EFO	experimental factor	pleural tuberculosis
EFO:0007447	\N	\N	"An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." []	EFO:0007447	"An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." []	68692	\N	\N	EFO	0	EFO	Pneumocystis infectious disease	Pneumocystis infectious disease
EFO:0005741	EFO:0007447	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007447	"An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." []	210842	\N	\N	EFO	1	EFO	infectious disease	Pneumocystis infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007447	"An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." []	564072	\N	\N	EFO	2	EFO	disease	Pneumocystis infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007447	"An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." []	1145254	\N	\N	EFO	3	EFO	disposition	Pneumocystis infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007447	"An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." []	2027793	\N	\N	EFO	4	EFO	material property	Pneumocystis infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007447	"An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." []	3179186	\N	\N	EFO	5	EFO	experimental factor	Pneumocystis infectious disease
EFO:0007448	\N	\N	"An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever." []	EFO:0007448	"An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever." []	68693	\N	\N	EFO	0	EFO	pneumocystosis	pneumocystosis
EFO:0000540	EFO:0007448	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007448	"An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever." []	210843	\N	\N	EFO	1	EFO	immune system disease	pneumocystosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007448	"An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever." []	564073	\N	\N	EFO	2	EFO	disease	pneumocystosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007448	"An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever." []	1145255	\N	\N	EFO	3	EFO	disposition	pneumocystosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007448	"An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever." []	2027794	\N	\N	EFO	4	EFO	material property	pneumocystosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007448	"An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever." []	3179187	\N	\N	EFO	5	EFO	experimental factor	pneumocystosis
EFO:0007449	\N	\N	"A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia." []	EFO:0007449	"A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia." []	68694	\N	\N	EFO	0	EFO	pneumonic pasteurellosis	pneumonic pasteurellosis
EFO:0000771	EFO:0007449	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007449	"A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia." []	210844	\N	\N	EFO	1	EFO	bacterial disease	pneumonic pasteurellosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007449	"A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia." []	564074	\N	\N	EFO	2	EFO	infectious disease	pneumonic pasteurellosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007449	"A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia." []	1145256	\N	\N	EFO	3	EFO	disease	pneumonic pasteurellosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007449	"A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia." []	2027795	\N	\N	EFO	4	EFO	disposition	pneumonic pasteurellosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007449	"A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia." []	3179188	\N	\N	EFO	5	EFO	material property	pneumonic pasteurellosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007449	"A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia." []	4388644	\N	\N	EFO	6	EFO	experimental factor	pneumonic pasteurellosis
EFO:0007450	\N	\N	"A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." []	EFO:0007450	"A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." []	68695	\N	\N	EFO	0	EFO	poliomyelitis	poliomyelitis
EFO:0000618	EFO:0007450	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007450	"A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." []	210845	\N	\N	EFO	1	EFO	nervous system disease	poliomyelitis
EFO:0000763	EFO:0007450	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007450	"A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." []	210846	\N	\N	EFO	1	EFO	viral disease	poliomyelitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007450	"A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." []	564075	\N	\N	EFO	2	EFO	disease	poliomyelitis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007450	"A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." []	564076	\N	\N	EFO	2	EFO	infectious disease	poliomyelitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007450	"A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." []	2027797	\N	\N	EFO	4	EFO	disposition	poliomyelitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007450	"A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." []	1145258	\N	\N	EFO	3	EFO	disease	poliomyelitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007450	"A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." []	2999885	\N	\N	EFO	5	EFO	material property	poliomyelitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007450	"A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." []	4132762	\N	\N	EFO	6	EFO	experimental factor	poliomyelitis
EFO:0007451	\N	\N	"A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer." []	EFO:0007451	"A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer." []	68696	\N	\N	EFO	0	EFO	Polyomavirus infectious disease	Polyomavirus infectious disease
EFO:0000763	EFO:0007451	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007451	"A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer." []	210847	\N	\N	EFO	1	EFO	viral disease	Polyomavirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007451	"A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer." []	564077	\N	\N	EFO	2	EFO	infectious disease	Polyomavirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007451	"A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer." []	1145259	\N	\N	EFO	3	EFO	disease	Polyomavirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007451	"A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer." []	2027798	\N	\N	EFO	4	EFO	disposition	Polyomavirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007451	"A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer." []	3179190	\N	\N	EFO	5	EFO	material property	Polyomavirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007451	"A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer." []	4388645	\N	\N	EFO	6	EFO	experimental factor	Polyomavirus infectious disease
EFO:0007452	\N	\N	"A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." []	EFO:0007452	"A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." []	68697	\N	\N	EFO	0	EFO	post-thrombotic syndrome	post-thrombotic syndrome
EFO:0004264	EFO:0007452	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0007452	"A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." []	210848	\N	\N	EFO	1	EFO	vascular disease	post-thrombotic syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007452	"A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." []	564078	\N	\N	EFO	2	EFO	cardiovascular disease	post-thrombotic syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007452	"A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." []	1145260	\N	\N	EFO	3	EFO	disease	post-thrombotic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007452	"A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." []	2027799	\N	\N	EFO	4	EFO	disposition	post-thrombotic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007452	"A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." []	3179191	\N	\N	EFO	5	EFO	material property	post-thrombotic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007452	"A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." []	4388646	\N	\N	EFO	6	EFO	experimental factor	post-thrombotic syndrome
EFO:0007453	\N	\N	"An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." []	EFO:0007453	"An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." []	68698	\N	\N	EFO	0	EFO	postpartum depression	postpartum depression
EFO:0003761	EFO:0007453	\N	"A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." []	EFO:0007453	"An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." []	210849	\N	\N	EFO	1	EFO	unipolar depression	postpartum depression
EFO:0004247	EFO:0003761	\N	"Those disorders that have a disturbance in mood as their predominant feature." []	EFO:0007453	"An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." []	564079	\N	\N	EFO	2	EFO	mood disorder	postpartum depression
EFO:0000677	EFO:0004247	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0007453	"An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." []	1145261	\N	\N	EFO	3	EFO	mental or behavioural disorder	postpartum depression
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0007453	"An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." []	2027800	\N	\N	EFO	4	EFO	brain disease	postpartum depression
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007453	"An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." []	3179192	\N	\N	EFO	5	EFO	nervous system disease	postpartum depression
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007453	"An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." []	4388647	\N	\N	EFO	6	EFO	disease	postpartum depression
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007453	"An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." []	5408953	\N	\N	EFO	7	EFO	disposition	postpartum depression
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007453	"An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." []	6147535	\N	\N	EFO	8	EFO	material property	postpartum depression
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007453	"An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." []	6631862	\N	\N	EFO	9	EFO	experimental factor	postpartum depression
EFO:0007454	\N	\N	"A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems." []	EFO:0007454	"A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems." []	68699	\N	\N	EFO	0	EFO	postpoliomyelitis syndrome	postpoliomyelitis syndrome
EFO:0000763	EFO:0007454	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007454	"A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems." []	210850	\N	\N	EFO	1	EFO	viral disease	postpoliomyelitis syndrome
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007454	"A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems." []	564080	\N	\N	EFO	2	EFO	infectious disease	postpoliomyelitis syndrome
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007454	"A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems." []	1145262	\N	\N	EFO	3	EFO	disease	postpoliomyelitis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007454	"A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems." []	2027801	\N	\N	EFO	4	EFO	disposition	postpoliomyelitis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007454	"A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems." []	3179193	\N	\N	EFO	5	EFO	material property	postpoliomyelitis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007454	"A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems." []	4388648	\N	\N	EFO	6	EFO	experimental factor	postpoliomyelitis syndrome
EFO:0007455	\N	\N	"A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma." []	EFO:0007455	"A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma." []	68700	\N	\N	EFO	0	EFO	progressive multifocal leukoencephalopathy	progressive multifocal leukoencephalopathy
EFO:0000763	EFO:0007455	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007455	"A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma." []	210851	\N	\N	EFO	1	EFO	viral disease	progressive multifocal leukoencephalopathy
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007455	"A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma." []	564081	\N	\N	EFO	2	EFO	infectious disease	progressive multifocal leukoencephalopathy
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007455	"A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma." []	1145263	\N	\N	EFO	3	EFO	disease	progressive multifocal leukoencephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007455	"A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma." []	2027802	\N	\N	EFO	4	EFO	disposition	progressive multifocal leukoencephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007455	"A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma." []	3179194	\N	\N	EFO	5	EFO	material property	progressive multifocal leukoencephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007455	"A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma." []	4388649	\N	\N	EFO	6	EFO	experimental factor	progressive multifocal leukoencephalopathy
EFO:0007456	\N	\N	"An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." []	EFO:0007456	"An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." []	68701	\N	\N	EFO	0	EFO	pseudomyxoma peritonei	pseudomyxoma peritonei
EFO:0003880	EFO:0007456	\N	"Tumors or cancer of the APPENDIX." []	EFO:0007456	"An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." []	210852	\N	\N	EFO	1	EFO	appendiceal neoplasm	pseudomyxoma peritonei
EFO:0004288	EFO:0003880	\N	"Tumors or cancer of the COLON." []	EFO:0007456	"An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." []	564082	\N	\N	EFO	2	EFO	colonic neoplasm	pseudomyxoma peritonei
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007456	"An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." []	1145264	\N	\N	EFO	3	EFO	digestive system disease	pseudomyxoma peritonei
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007456	"An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." []	1145265	\N	\N	EFO	3	EFO	neoplasm	pseudomyxoma peritonei
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007456	"An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." []	2027803	\N	\N	EFO	4	EFO	disease	pseudomyxoma peritonei
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007456	"An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." []	2027804	\N	\N	EFO	4	EFO	disease	pseudomyxoma peritonei
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007456	"An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." []	3179195	\N	\N	EFO	5	EFO	disposition	pseudomyxoma peritonei
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007456	"An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." []	4388650	\N	\N	EFO	6	EFO	material property	pseudomyxoma peritonei
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007456	"An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." []	5408954	\N	\N	EFO	7	EFO	experimental factor	pseudomyxoma peritonei
EFO:0007457	\N	\N	"A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle." []	EFO:0007457	"A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle." []	68702	\N	\N	EFO	0	EFO	pseudorabies	pseudorabies
EFO:0000763	EFO:0007457	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007457	"A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle." []	210853	\N	\N	EFO	1	EFO	viral disease	pseudorabies
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007457	"A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle." []	564083	\N	\N	EFO	2	EFO	infectious disease	pseudorabies
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007457	"A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle." []	1145266	\N	\N	EFO	3	EFO	disease	pseudorabies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007457	"A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle." []	2027805	\N	\N	EFO	4	EFO	disposition	pseudorabies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007457	"A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle." []	3179196	\N	\N	EFO	5	EFO	material property	pseudorabies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007457	"A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle." []	4388651	\N	\N	EFO	6	EFO	experimental factor	pseudorabies
EFO:0007458	\N	\N	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	68703	\N	\N	EFO	0	EFO	pulmonary blastoma	pulmonary blastoma
EFO:0000313	EFO:0007458	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	210854	\N	\N	EFO	1	EFO	carcinoma	pulmonary blastoma
EFO:0003818	EFO:0007458	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	210855	\N	\N	EFO	1	EFO	lung disease	pulmonary blastoma
EFO:0003853	EFO:0007458	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	210856	\N	\N	EFO	1	EFO	respiratory system neoplasm	pulmonary blastoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	564084	\N	\N	EFO	2	EFO	cancer	pulmonary blastoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	564085	\N	\N	EFO	2	EFO	epithelial neoplasm	pulmonary blastoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	564086	\N	\N	EFO	2	EFO	respiratory system disease	pulmonary blastoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	564087	\N	\N	EFO	2	EFO	neoplasm	pulmonary blastoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	564088	\N	\N	EFO	2	EFO	respiratory system disease	pulmonary blastoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	1145267	\N	\N	EFO	3	EFO	neoplasm	pulmonary blastoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	1145268	\N	\N	EFO	3	EFO	neoplasm	pulmonary blastoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	1145269	\N	\N	EFO	3	EFO	disease	pulmonary blastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	2027806	\N	\N	EFO	4	EFO	disease	pulmonary blastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	2999886	\N	\N	EFO	5	EFO	disposition	pulmonary blastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	4132763	\N	\N	EFO	6	EFO	material property	pulmonary blastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007458	"An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." []	5181055	\N	\N	EFO	7	EFO	experimental factor	pulmonary blastoma
EFO:0007459	\N	\N	"A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." []	EFO:0007459	"A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." []	68704	\N	\N	EFO	0	EFO	pyruvate decarboxylase deficiency	pyruvate decarboxylase deficiency
EFO:1000061	EFO:0007459	\N	"" []	EFO:0007459	"A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." []	210857	\N	\N	EFO	1	EFO	carbohydrate metabolic disorder	pyruvate decarboxylase deficiency
EFO:0000589	EFO:1000061	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:0007459	"A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." []	564089	\N	\N	EFO	2	EFO	metabolic disease	pyruvate decarboxylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007459	"A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." []	1145271	\N	\N	EFO	3	EFO	disease	pyruvate decarboxylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007459	"A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." []	2027808	\N	\N	EFO	4	EFO	disposition	pyruvate decarboxylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007459	"A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." []	3179198	\N	\N	EFO	5	EFO	material property	pyruvate decarboxylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007459	"A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." []	4388653	\N	\N	EFO	6	EFO	experimental factor	pyruvate decarboxylase deficiency
EFO:0007460	\N	\N	"An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." []	EFO:0007460	"An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." []	68705	\N	\N	EFO	0	EFO	reactive arthritis	reactive arthritis
EFO:0005856	EFO:0007460	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:0007460	"An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." []	210858	\N	\N	EFO	1	EFO	arthritis	reactive arthritis
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:0007460	"An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." []	564090	\N	\N	EFO	2	EFO	autoimmune disease	reactive arthritis
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:0007460	"An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." []	564091	\N	\N	EFO	2	EFO	rheumatic disease	reactive arthritis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007460	"An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." []	1145272	\N	\N	EFO	3	EFO	immune system disease	reactive arthritis
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:0007460	"An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." []	1145273	\N	\N	EFO	3	EFO	skeletal system disease	reactive arthritis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007460	"An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." []	2027809	\N	\N	EFO	4	EFO	disease	reactive arthritis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007460	"An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." []	2027810	\N	\N	EFO	4	EFO	disease	reactive arthritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007460	"An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." []	3179199	\N	\N	EFO	5	EFO	disposition	reactive arthritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007460	"An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." []	4388654	\N	\N	EFO	6	EFO	material property	reactive arthritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007460	"An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." []	5408955	\N	\N	EFO	7	EFO	experimental factor	reactive arthritis
EFO:0007461	\N	\N	"recurrent pneumonia due to nontuberculous mycobacterium infections" []	EFO:0007461	"recurrent pneumonia due to nontuberculous mycobacterium infections" []	68706	\N	\N	EFO	0	EFO	recurrent pneumonia	recurrent pneumonia
EFO:0003106	EFO:0007461	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:0007461	"recurrent pneumonia due to nontuberculous mycobacterium infections" []	210859	\N	\N	EFO	1	EFO	pneumonia	recurrent pneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007461	"recurrent pneumonia due to nontuberculous mycobacterium infections" []	564092	\N	\N	EFO	2	EFO	lung disease	recurrent pneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007461	"recurrent pneumonia due to nontuberculous mycobacterium infections" []	564093	\N	\N	EFO	2	EFO	infectious disease	recurrent pneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007461	"recurrent pneumonia due to nontuberculous mycobacterium infections" []	1145274	\N	\N	EFO	3	EFO	respiratory system disease	recurrent pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007461	"recurrent pneumonia due to nontuberculous mycobacterium infections" []	1145275	\N	\N	EFO	3	EFO	disease	recurrent pneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007461	"recurrent pneumonia due to nontuberculous mycobacterium infections" []	2027811	\N	\N	EFO	4	EFO	disease	recurrent pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007461	"recurrent pneumonia due to nontuberculous mycobacterium infections" []	3179200	\N	\N	EFO	5	EFO	disposition	recurrent pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007461	"recurrent pneumonia due to nontuberculous mycobacterium infections" []	4132764	\N	\N	EFO	6	EFO	material property	recurrent pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007461	"recurrent pneumonia due to nontuberculous mycobacterium infections" []	5181056	\N	\N	EFO	7	EFO	experimental factor	recurrent pneumonia
EFO:0007462	\N	\N	"A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." []	EFO:0007462	"A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." []	68707	\N	\N	EFO	0	EFO	REM sleep behavior disorder	REM sleep behavior disorder
EFO:0000677	EFO:0007462	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:0007462	"A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." []	210860	\N	\N	EFO	1	EFO	mental or behavioural disorder	REM sleep behavior disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:0007462	"A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." []	564094	\N	\N	EFO	2	EFO	brain disease	REM sleep behavior disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007462	"A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." []	1145276	\N	\N	EFO	3	EFO	nervous system disease	REM sleep behavior disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007462	"A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." []	2027813	\N	\N	EFO	4	EFO	disease	REM sleep behavior disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007462	"A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." []	3179202	\N	\N	EFO	5	EFO	disposition	REM sleep behavior disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007462	"A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." []	4388656	\N	\N	EFO	6	EFO	material property	REM sleep behavior disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007462	"A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." []	5408956	\N	\N	EFO	7	EFO	experimental factor	REM sleep behavior disorder
EFO:0007463	\N	\N	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	EFO:0007463	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	68708	\N	\N	EFO	0	EFO	renal tuberculosis	renal tuberculosis
EFO:0003086	EFO:0007463	\N	"A disease affecting the kidneys" []	EFO:0007463	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	210861	\N	\N	EFO	1	EFO	kidney disease	renal tuberculosis
Orphanet:3389	EFO:0007463	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007463	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	210862	\N	\N	EFO	1	EFO	Tuberculosis	renal tuberculosis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007463	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	564095	\N	\N	EFO	2	EFO	disease	renal tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007463	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	564096	\N	\N	EFO	2	EFO	respiratory system disease	renal tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007463	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	564097	\N	\N	EFO	2	EFO	bacterial disease	renal tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007463	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	3179204	\N	\N	EFO	5	EFO	disposition	renal tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007463	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	1145278	\N	\N	EFO	3	EFO	disease	renal tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007463	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	1145279	\N	\N	EFO	3	EFO	infectious disease	renal tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007463	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	4066728	\N	\N	EFO	6	EFO	material property	renal tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007463	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	2027816	\N	\N	EFO	4	EFO	disease	renal tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007463	"An urogenital tuberculosis that results_in formation of granulomas located_in kidney." []	5059372	\N	\N	EFO	7	EFO	experimental factor	renal tuberculosis
EFO:0007464	\N	\N	"A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses." []	EFO:0007464	"A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses." []	68709	\N	\N	EFO	0	EFO	Reoviridae infectious disease	Reoviridae infectious disease
EFO:0000763	EFO:0007464	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007464	"A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses." []	210863	\N	\N	EFO	1	EFO	viral disease	Reoviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007464	"A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses." []	564098	\N	\N	EFO	2	EFO	infectious disease	Reoviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007464	"A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses." []	1145280	\N	\N	EFO	3	EFO	disease	Reoviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007464	"A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses." []	2027817	\N	\N	EFO	4	EFO	disposition	Reoviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007464	"A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses." []	3179205	\N	\N	EFO	5	EFO	material property	Reoviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007464	"A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses." []	4388657	\N	\N	EFO	6	EFO	experimental factor	Reoviridae infectious disease
EFO:0007465	\N	\N	"A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person." []	EFO:0007465	"A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person." []	68710	\N	\N	EFO	0	EFO	Respirovirus infectious disease	Respirovirus infectious disease
EFO:0000763	EFO:0007465	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007465	"A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person." []	210864	\N	\N	EFO	1	EFO	viral disease	Respirovirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007465	"A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person." []	564099	\N	\N	EFO	2	EFO	infectious disease	Respirovirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007465	"A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person." []	1145281	\N	\N	EFO	3	EFO	disease	Respirovirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007465	"A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person." []	2027818	\N	\N	EFO	4	EFO	disposition	Respirovirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007465	"A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person." []	3179206	\N	\N	EFO	5	EFO	material property	Respirovirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007465	"A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person." []	4388658	\N	\N	EFO	6	EFO	experimental factor	Respirovirus infectious disease
EFO:0007466	\N	\N	"An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum." []	EFO:0007466	"An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum." []	68711	\N	\N	EFO	0	EFO	retroperitoneal cancer	retroperitoneal cancer
EFO:0000313	EFO:0007466	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007466	"An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum." []	210865	\N	\N	EFO	1	EFO	carcinoma	retroperitoneal cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007466	"An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum." []	564100	\N	\N	EFO	2	EFO	cancer	retroperitoneal cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007466	"An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum." []	564101	\N	\N	EFO	2	EFO	epithelial neoplasm	retroperitoneal cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007466	"An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum." []	1145282	\N	\N	EFO	3	EFO	neoplasm	retroperitoneal cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007466	"An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum." []	1145283	\N	\N	EFO	3	EFO	neoplasm	retroperitoneal cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007466	"An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum." []	2027819	\N	\N	EFO	4	EFO	disease	retroperitoneal cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007466	"An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum." []	3179207	\N	\N	EFO	5	EFO	disposition	retroperitoneal cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007466	"An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum." []	4388659	\N	\N	EFO	6	EFO	material property	retroperitoneal cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007466	"An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum." []	5408957	\N	\N	EFO	7	EFO	experimental factor	retroperitoneal cancer
EFO:0007467	\N	\N	"A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." []	EFO:0007467	"A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." []	68712	\N	\N	EFO	0	EFO	Reye syndrome	Reye syndrome
EFO:0005774	EFO:0007467	\N	"A disease affecting the brain or part of the brain." []	EFO:0007467	"A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." []	210866	\N	\N	EFO	1	EFO	brain disease	Reye syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007467	"A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." []	564102	\N	\N	EFO	2	EFO	nervous system disease	Reye syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007467	"A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." []	1145284	\N	\N	EFO	3	EFO	disease	Reye syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007467	"A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." []	2027820	\N	\N	EFO	4	EFO	disposition	Reye syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007467	"A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." []	3179208	\N	\N	EFO	5	EFO	material property	Reye syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007467	"A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." []	4388660	\N	\N	EFO	6	EFO	experimental factor	Reye syndrome
EFO:0007468	\N	\N	"A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips." []	EFO:0007468	"A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips." []	68713	\N	\N	EFO	0	EFO	Rhabditida infectious disease	Rhabditida infectious disease
EFO:0001067	EFO:0007468	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007468	"A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips." []	210867	\N	\N	EFO	1	EFO	parasitic infection	Rhabditida infectious disease
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007468	"A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips." []	564103	\N	\N	EFO	2	EFO	infectious disease	Rhabditida infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007468	"A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips." []	1145285	\N	\N	EFO	3	EFO	disease	Rhabditida infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007468	"A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips." []	2027821	\N	\N	EFO	4	EFO	disposition	Rhabditida infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007468	"A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips." []	3179209	\N	\N	EFO	5	EFO	material property	Rhabditida infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007468	"A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips." []	4388661	\N	\N	EFO	6	EFO	experimental factor	Rhabditida infectious disease
EFO:0007469	\N	\N	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses." []	EFO:0007469	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses." []	68714	\N	\N	EFO	0	EFO	Rhabdoviridae infectious disease	Rhabdoviridae infectious disease
EFO:0000763	EFO:0007469	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007469	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses." []	210868	\N	\N	EFO	1	EFO	viral disease	Rhabdoviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007469	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses." []	564104	\N	\N	EFO	2	EFO	infectious disease	Rhabdoviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007469	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses." []	1145286	\N	\N	EFO	3	EFO	disease	Rhabdoviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007469	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses." []	2027822	\N	\N	EFO	4	EFO	disposition	Rhabdoviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007469	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses." []	3179210	\N	\N	EFO	5	EFO	material property	Rhabdoviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007469	"A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses." []	4388662	\N	\N	EFO	6	EFO	experimental factor	Rhabdoviridae infectious disease
EFO:0007470	\N	\N	"A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." []	EFO:0007470	"A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." []	68715	\N	\N	EFO	0	EFO	rhinoscleroma	rhinoscleroma
EFO:0000684	EFO:0007470	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007470	"A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." []	210869	\N	\N	EFO	1	EFO	respiratory system disease	rhinoscleroma
EFO:0000771	EFO:0007470	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007470	"A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." []	210870	\N	\N	EFO	1	EFO	bacterial disease	rhinoscleroma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007470	"A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." []	564105	\N	\N	EFO	2	EFO	disease	rhinoscleroma
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007470	"A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." []	564106	\N	\N	EFO	2	EFO	infectious disease	rhinoscleroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007470	"A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." []	2027824	\N	\N	EFO	4	EFO	disposition	rhinoscleroma
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007470	"A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." []	1145288	\N	\N	EFO	3	EFO	disease	rhinoscleroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007470	"A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." []	2999888	\N	\N	EFO	5	EFO	material property	rhinoscleroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007470	"A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." []	4132766	\N	\N	EFO	6	EFO	experimental factor	rhinoscleroma
EFO:0007471	\N	\N	"A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed." []	EFO:0007471	"A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed." []	68716	\N	\N	EFO	0	EFO	rhinosporidiosis	rhinosporidiosis
EFO:0001067	EFO:0007471	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007471	"A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed." []	210871	\N	\N	EFO	1	EFO	parasitic infection	rhinosporidiosis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007471	"A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed." []	564107	\N	\N	EFO	2	EFO	infectious disease	rhinosporidiosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007471	"A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed." []	1145289	\N	\N	EFO	3	EFO	disease	rhinosporidiosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007471	"A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed." []	2027825	\N	\N	EFO	4	EFO	disposition	rhinosporidiosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007471	"A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed." []	3179212	\N	\N	EFO	5	EFO	material property	rhinosporidiosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007471	"A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed." []	4388663	\N	\N	EFO	6	EFO	experimental factor	rhinosporidiosis
EFO:0007472	\N	\N	"A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." []	EFO:0007472	"A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." []	68717	\N	\N	EFO	0	EFO	rickettsial pneumonia	rickettsial pneumonia
EFO:0003106	EFO:0007472	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:0007472	"A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." []	210872	\N	\N	EFO	1	EFO	pneumonia	rickettsial pneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007472	"A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." []	564108	\N	\N	EFO	2	EFO	lung disease	rickettsial pneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007472	"A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." []	564109	\N	\N	EFO	2	EFO	infectious disease	rickettsial pneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007472	"A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." []	1145290	\N	\N	EFO	3	EFO	respiratory system disease	rickettsial pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007472	"A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." []	1145291	\N	\N	EFO	3	EFO	disease	rickettsial pneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007472	"A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." []	2027826	\N	\N	EFO	4	EFO	disease	rickettsial pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007472	"A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." []	3179213	\N	\N	EFO	5	EFO	disposition	rickettsial pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007472	"A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." []	4132767	\N	\N	EFO	6	EFO	material property	rickettsial pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007472	"A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." []	5181057	\N	\N	EFO	7	EFO	experimental factor	rickettsial pneumonia
EFO:0007473	\N	\N	"A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability." []	EFO:0007473	"A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability." []	68718	\N	\N	EFO	0	EFO	Ritter's disease	Ritter's disease
EFO:0000771	EFO:0007473	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007473	"A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability." []	210873	\N	\N	EFO	1	EFO	bacterial disease	Ritter's disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007473	"A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability." []	564110	\N	\N	EFO	2	EFO	infectious disease	Ritter's disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007473	"A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability." []	1145292	\N	\N	EFO	3	EFO	disease	Ritter's disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007473	"A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability." []	2027828	\N	\N	EFO	4	EFO	disposition	Ritter's disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007473	"A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability." []	3179215	\N	\N	EFO	5	EFO	material property	Ritter's disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007473	"A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability." []	4388665	\N	\N	EFO	6	EFO	experimental factor	Ritter's disease
EFO:0007474	\N	\N	"A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7." []	EFO:0007474	"A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7." []	68719	\N	\N	EFO	0	EFO	Roseolovirus infectious disease	Roseolovirus infectious disease
EFO:0000763	EFO:0007474	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007474	"A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7." []	210874	\N	\N	EFO	1	EFO	viral disease	Roseolovirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007474	"A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7." []	564111	\N	\N	EFO	2	EFO	infectious disease	Roseolovirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007474	"A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7." []	1145293	\N	\N	EFO	3	EFO	disease	Roseolovirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007474	"A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7." []	2027829	\N	\N	EFO	4	EFO	disposition	Roseolovirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007474	"A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7." []	3179216	\N	\N	EFO	5	EFO	material property	Roseolovirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007474	"A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7." []	4388666	\N	\N	EFO	6	EFO	experimental factor	Roseolovirus infectious disease
EFO:0007475	\N	\N	"A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness." []	EFO:0007475	"A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness." []	68720	\N	\N	EFO	0	EFO	Salmonella gastroenteritis	Salmonella gastroenteritis
EFO:0000771	EFO:0007475	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007475	"A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness." []	210875	\N	\N	EFO	1	EFO	bacterial disease	Salmonella gastroenteritis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007475	"A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness." []	564112	\N	\N	EFO	2	EFO	infectious disease	Salmonella gastroenteritis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007475	"A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness." []	1145294	\N	\N	EFO	3	EFO	disease	Salmonella gastroenteritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007475	"A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness." []	2027830	\N	\N	EFO	4	EFO	disposition	Salmonella gastroenteritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007475	"A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness." []	3179217	\N	\N	EFO	5	EFO	material property	Salmonella gastroenteritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007475	"A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness." []	4388667	\N	\N	EFO	6	EFO	experimental factor	Salmonella gastroenteritis
EFO:0007476	\N	\N	"A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy." []	EFO:0007476	"A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy." []	68721	\N	\N	EFO	0	EFO	sarcocystosis	sarcocystosis
EFO:0001067	EFO:0007476	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007476	"A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy." []	210876	\N	\N	EFO	1	EFO	parasitic infection	sarcocystosis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007476	"A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy." []	564113	\N	\N	EFO	2	EFO	infectious disease	sarcocystosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007476	"A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy." []	1145295	\N	\N	EFO	3	EFO	disease	sarcocystosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007476	"A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy." []	2027831	\N	\N	EFO	4	EFO	disposition	sarcocystosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007476	"A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy." []	3179218	\N	\N	EFO	5	EFO	material property	sarcocystosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007476	"A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy." []	4388668	\N	\N	EFO	6	EFO	experimental factor	sarcocystosis
EFO:0007477	\N	\N	"An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash." []	EFO:0007477	"An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash." []	68722	\N	\N	EFO	0	EFO	scarlet fever	scarlet fever
EFO:0000684	EFO:0007477	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007477	"An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash." []	210877	\N	\N	EFO	1	EFO	respiratory system disease	scarlet fever
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007477	"An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash." []	564114	\N	\N	EFO	2	EFO	disease	scarlet fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007477	"An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash." []	1145296	\N	\N	EFO	3	EFO	disposition	scarlet fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007477	"An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash." []	2027832	\N	\N	EFO	4	EFO	material property	scarlet fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007477	"An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash." []	3179219	\N	\N	EFO	5	EFO	experimental factor	scarlet fever
EFO:0007478	\N	\N	"An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." []	EFO:0007478	"An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." []	68723	\N	\N	EFO	0	EFO	scirrhous adenocarcinoma	scirrhous adenocarcinoma
EFO:0000228	EFO:0007478	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:0007478	"An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." []	210878	\N	\N	EFO	1	EFO	adenocarcinoma	scirrhous adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007478	"An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." []	564115	\N	\N	EFO	2	EFO	carcinoma	scirrhous adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007478	"An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." []	1145297	\N	\N	EFO	3	EFO	cancer	scirrhous adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007478	"An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." []	1145298	\N	\N	EFO	3	EFO	epithelial neoplasm	scirrhous adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007478	"An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." []	2027833	\N	\N	EFO	4	EFO	neoplasm	scirrhous adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007478	"An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." []	2027834	\N	\N	EFO	4	EFO	neoplasm	scirrhous adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007478	"An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." []	3179220	\N	\N	EFO	5	EFO	disease	scirrhous adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007478	"An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." []	4388669	\N	\N	EFO	6	EFO	disposition	scirrhous adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007478	"An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." []	5408958	\N	\N	EFO	7	EFO	material property	scirrhous adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007478	"An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." []	6147536	\N	\N	EFO	8	EFO	experimental factor	scirrhous adenocarcinoma
EFO:0007479	\N	\N	"A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage." []	EFO:0007479	"A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage." []	68724	\N	\N	EFO	0	EFO	screw worm infectious disease	screw worm infectious disease
EFO:0001067	EFO:0007479	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007479	"A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage." []	210879	\N	\N	EFO	1	EFO	parasitic infection	screw worm infectious disease
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007479	"A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage." []	564116	\N	\N	EFO	2	EFO	infectious disease	screw worm infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007479	"A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage." []	1145299	\N	\N	EFO	3	EFO	disease	screw worm infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007479	"A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage." []	2027835	\N	\N	EFO	4	EFO	disposition	screw worm infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007479	"A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage." []	3179221	\N	\N	EFO	5	EFO	material property	screw worm infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007479	"A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage." []	4388670	\N	\N	EFO	6	EFO	experimental factor	screw worm infectious disease
EFO:0007480	\N	\N	"A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy." []	EFO:0007480	"A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy." []	68725	\N	\N	EFO	0	EFO	scrub typhus	scrub typhus
EFO:0006789	EFO:0007480	\N	"A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." []	EFO:0007480	"A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy." []	210880	\N	\N	EFO	1	EFO	typhoid fever	scrub typhus
EFO:0000771	EFO:0006789	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007480	"A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy." []	564117	\N	\N	EFO	2	EFO	bacterial disease	scrub typhus
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007480	"A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy." []	1145300	\N	\N	EFO	3	EFO	infectious disease	scrub typhus
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007480	"A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy." []	2027836	\N	\N	EFO	4	EFO	disease	scrub typhus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007480	"A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy." []	3179222	\N	\N	EFO	5	EFO	disposition	scrub typhus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007480	"A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy." []	4388671	\N	\N	EFO	6	EFO	material property	scrub typhus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007480	"A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy." []	5408959	\N	\N	EFO	7	EFO	experimental factor	scrub typhus
EFO:0007481	\N	\N	"A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs." []	EFO:0007481	"A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs." []	68726	\N	\N	EFO	0	EFO	septicemic plague	septicemic plague
EFO:0000319	EFO:0007481	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007481	"A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs." []	210881	\N	\N	EFO	1	EFO	cardiovascular disease	septicemic plague
EFO:0000771	EFO:0007481	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007481	"A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs." []	210882	\N	\N	EFO	1	EFO	bacterial disease	septicemic plague
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007481	"A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs." []	564118	\N	\N	EFO	2	EFO	disease	septicemic plague
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007481	"A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs." []	564119	\N	\N	EFO	2	EFO	infectious disease	septicemic plague
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007481	"A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs." []	2027838	\N	\N	EFO	4	EFO	disposition	septicemic plague
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007481	"A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs." []	1145302	\N	\N	EFO	3	EFO	disease	septicemic plague
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007481	"A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs." []	2999889	\N	\N	EFO	5	EFO	material property	septicemic plague
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007481	"A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs." []	4132768	\N	\N	EFO	6	EFO	experimental factor	septicemic plague
EFO:0007482	\N	\N	"A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria." []	EFO:0007482	"A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria." []	68727	\N	\N	EFO	0	EFO	setariasis	setariasis
EFO:0000701	EFO:0007482	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007482	"A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria." []	210883	\N	\N	EFO	1	EFO	skin disease	setariasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007482	"A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria." []	564120	\N	\N	EFO	2	EFO	disease	setariasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007482	"A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria." []	1145303	\N	\N	EFO	3	EFO	disposition	setariasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007482	"A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria." []	2027839	\N	\N	EFO	4	EFO	material property	setariasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007482	"A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria." []	3179224	\N	\N	EFO	5	EFO	experimental factor	setariasis
EFO:0007483	\N	\N	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	68728	\N	\N	EFO	0	EFO	sex cord-gonadal stromal tumor	sex cord-gonadal stromal tumor
EFO:0000313	EFO:0007483	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	210884	\N	\N	EFO	1	EFO	carcinoma	sex cord-gonadal stromal tumor
EFO:0000512	EFO:0007483	\N	"any diease of the reproductive system" []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	210885	\N	\N	EFO	1	EFO	reproductive system disease	sex cord-gonadal stromal tumor
EFO:0003863	EFO:0007483	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	210886	\N	\N	EFO	1	EFO	urogenital neoplasm	sex cord-gonadal stromal tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	564121	\N	\N	EFO	2	EFO	cancer	sex cord-gonadal stromal tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	564122	\N	\N	EFO	2	EFO	epithelial neoplasm	sex cord-gonadal stromal tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	564123	\N	\N	EFO	2	EFO	disease	sex cord-gonadal stromal tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	564124	\N	\N	EFO	2	EFO	neoplasm	sex cord-gonadal stromal tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	1145304	\N	\N	EFO	3	EFO	neoplasm	sex cord-gonadal stromal tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	1145305	\N	\N	EFO	3	EFO	neoplasm	sex cord-gonadal stromal tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	2999891	\N	\N	EFO	5	EFO	disposition	sex cord-gonadal stromal tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	2027840	\N	\N	EFO	4	EFO	disease	sex cord-gonadal stromal tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	4066729	\N	\N	EFO	6	EFO	material property	sex cord-gonadal stromal tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007483	"A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." []	5059373	\N	\N	EFO	7	EFO	experimental factor	sex cord-gonadal stromal tumor
EFO:0007484	\N	\N	"An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." []	EFO:0007484	"An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." []	68729	\N	\N	EFO	0	EFO	sick building syndrome	sick building syndrome
EFO:0003785	EFO:0007484	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0007484	"An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." []	210887	\N	\N	EFO	1	EFO	allergy	sick building syndrome
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007484	"An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." []	564125	\N	\N	EFO	2	EFO	immune system disease	sick building syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007484	"An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." []	1145308	\N	\N	EFO	3	EFO	disease	sick building syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007484	"An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." []	2027843	\N	\N	EFO	4	EFO	disposition	sick building syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007484	"An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." []	3179226	\N	\N	EFO	5	EFO	material property	sick building syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007484	"An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." []	4388672	\N	\N	EFO	6	EFO	experimental factor	sick building syndrome
EFO:0007485	\N	\N	"A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." []	EFO:0007485	"A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." []	68730	\N	\N	EFO	0	EFO	silicosis	silicosis
Orphanet:182098	EFO:0007485	\N	"" []	EFO:0007485	"A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." []	210888	\N	\N	EFO	1	EFO	pneumoconiosis	silicosis
EFO:0000771	Orphanet:182098	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007485	"A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." []	564126	\N	\N	EFO	2	EFO	bacterial disease	silicosis
EFO:0003818	Orphanet:182098	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007485	"A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." []	564127	\N	\N	EFO	2	EFO	lung disease	silicosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007485	"A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." []	1145309	\N	\N	EFO	3	EFO	infectious disease	silicosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007485	"A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." []	1145310	\N	\N	EFO	3	EFO	respiratory system disease	silicosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007485	"A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." []	2027844	\N	\N	EFO	4	EFO	disease	silicosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007485	"A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." []	2027845	\N	\N	EFO	4	EFO	disease	silicosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007485	"A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." []	3179227	\N	\N	EFO	5	EFO	disposition	silicosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007485	"A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." []	4388673	\N	\N	EFO	6	EFO	material property	silicosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007485	"A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." []	5408960	\N	\N	EFO	7	EFO	experimental factor	silicosis
EFO:0007486	\N	\N	"A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." []	EFO:0007486	"A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." []	68731	\N	\N	EFO	0	EFO	sinusitis	sinusitis
EFO:0000684	EFO:0007486	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007486	"A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." []	210889	\N	\N	EFO	1	EFO	respiratory system disease	sinusitis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007486	"A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." []	564128	\N	\N	EFO	2	EFO	disease	sinusitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007486	"A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." []	1145311	\N	\N	EFO	3	EFO	disposition	sinusitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007486	"A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." []	2027846	\N	\N	EFO	4	EFO	material property	sinusitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007486	"A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." []	3179228	\N	\N	EFO	5	EFO	experimental factor	sinusitis
EFO:0007487	\N	\N	"An extrapulmonary tuberculosis that results in formation of lesions located_in bone." []	EFO:0007487	"An extrapulmonary tuberculosis that results in formation of lesions located_in bone." []	68732	\N	\N	EFO	0	EFO	skeletal tuberculosis	skeletal tuberculosis
Orphanet:3389	EFO:0007487	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007487	"An extrapulmonary tuberculosis that results in formation of lesions located_in bone." []	210890	\N	\N	EFO	1	EFO	Tuberculosis	skeletal tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007487	"An extrapulmonary tuberculosis that results in formation of lesions located_in bone." []	564129	\N	\N	EFO	2	EFO	respiratory system disease	skeletal tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007487	"An extrapulmonary tuberculosis that results in formation of lesions located_in bone." []	564130	\N	\N	EFO	2	EFO	bacterial disease	skeletal tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007487	"An extrapulmonary tuberculosis that results in formation of lesions located_in bone." []	1145312	\N	\N	EFO	3	EFO	disease	skeletal tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007487	"An extrapulmonary tuberculosis that results in formation of lesions located_in bone." []	1145313	\N	\N	EFO	3	EFO	infectious disease	skeletal tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007487	"An extrapulmonary tuberculosis that results in formation of lesions located_in bone." []	3179230	\N	\N	EFO	5	EFO	disposition	skeletal tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007487	"An extrapulmonary tuberculosis that results in formation of lesions located_in bone." []	2027848	\N	\N	EFO	4	EFO	disease	skeletal tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007487	"An extrapulmonary tuberculosis that results in formation of lesions located_in bone." []	4132770	\N	\N	EFO	6	EFO	material property	skeletal tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007487	"An extrapulmonary tuberculosis that results in formation of lesions located_in bone." []	5181058	\N	\N	EFO	7	EFO	experimental factor	skeletal tuberculosis
EFO:0007488	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." []	EFO:0007488	"A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." []	68733	\N	\N	EFO	0	EFO	sparganosis	sparganosis
EFO:0001067	EFO:0007488	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007488	"A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." []	210891	\N	\N	EFO	1	EFO	parasitic infection	sparganosis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007488	"A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." []	564131	\N	\N	EFO	2	EFO	infectious disease	sparganosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007488	"A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." []	1145314	\N	\N	EFO	3	EFO	disease	sparganosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007488	"A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." []	2027849	\N	\N	EFO	4	EFO	disposition	sparganosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007488	"A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." []	3179231	\N	\N	EFO	5	EFO	material property	sparganosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007488	"A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." []	4388675	\N	\N	EFO	6	EFO	experimental factor	sparganosis
EFO:0007489	\N	\N	"A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." []	EFO:0007489	"A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." []	68734	\N	\N	EFO	0	EFO	sphenoid sinusitis	sphenoid sinusitis
EFO:0007486	EFO:0007489	\N	"A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." []	EFO:0007489	"A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." []	210892	\N	\N	EFO	1	EFO	sinusitis	sphenoid sinusitis
EFO:0000684	EFO:0007486	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007489	"A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." []	564132	\N	\N	EFO	2	EFO	respiratory system disease	sphenoid sinusitis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007489	"A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." []	1145315	\N	\N	EFO	3	EFO	disease	sphenoid sinusitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007489	"A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." []	2027850	\N	\N	EFO	4	EFO	disposition	sphenoid sinusitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007489	"A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." []	3179232	\N	\N	EFO	5	EFO	material property	sphenoid sinusitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007489	"A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." []	4388676	\N	\N	EFO	6	EFO	experimental factor	sphenoid sinusitis
EFO:0007490	\N	\N	"A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord." []	EFO:0007490	"A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord." []	68735	\N	\N	EFO	0	EFO	spinal stenosis	spinal stenosis
EFO:0004260	EFO:0007490	\N	"Diseases of BONES." []	EFO:0007490	"A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord." []	210893	\N	\N	EFO	1	EFO	bone disease	spinal stenosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0007490	"A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord." []	564133	\N	\N	EFO	2	EFO	skeletal system disease	spinal stenosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007490	"A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord." []	1145316	\N	\N	EFO	3	EFO	disease	spinal stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007490	"A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord." []	2027851	\N	\N	EFO	4	EFO	disposition	spinal stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007490	"A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord." []	3179233	\N	\N	EFO	5	EFO	material property	spinal stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007490	"A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord." []	4388677	\N	\N	EFO	6	EFO	experimental factor	spinal stenosis
EFO:0007491	\N	\N	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	EFO:0007491	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	68736	\N	\N	EFO	0	EFO	spleen cancer	spleen cancer
EFO:0000313	EFO:0007491	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007491	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	210894	\N	\N	EFO	1	EFO	carcinoma	spleen cancer
EFO:0000405	EFO:0007491	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007491	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	210895	\N	\N	EFO	1	EFO	digestive system disease	spleen cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007491	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	564134	\N	\N	EFO	2	EFO	cancer	spleen cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007491	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	564135	\N	\N	EFO	2	EFO	epithelial neoplasm	spleen cancer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007491	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	564136	\N	\N	EFO	2	EFO	disease	spleen cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007491	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	1145317	\N	\N	EFO	3	EFO	neoplasm	spleen cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007491	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	1145318	\N	\N	EFO	3	EFO	neoplasm	spleen cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007491	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	3179234	\N	\N	EFO	5	EFO	disposition	spleen cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007491	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	2027852	\N	\N	EFO	4	EFO	disease	spleen cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007491	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	4066730	\N	\N	EFO	6	EFO	material property	spleen cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007491	"A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." []	5059374	\N	\N	EFO	7	EFO	experimental factor	spleen cancer
EFO:0007492	\N	\N	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	EFO:0007492	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	68737	\N	\N	EFO	0	EFO	splenic tuberculosis	splenic tuberculosis
EFO:0000405	EFO:0007492	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007492	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	210896	\N	\N	EFO	1	EFO	digestive system disease	splenic tuberculosis
Orphanet:3389	EFO:0007492	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007492	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	210897	\N	\N	EFO	1	EFO	Tuberculosis	splenic tuberculosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007492	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	564137	\N	\N	EFO	2	EFO	disease	splenic tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007492	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	564138	\N	\N	EFO	2	EFO	respiratory system disease	splenic tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007492	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	564139	\N	\N	EFO	2	EFO	bacterial disease	splenic tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007492	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	3179237	\N	\N	EFO	5	EFO	disposition	splenic tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007492	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	1145321	\N	\N	EFO	3	EFO	disease	splenic tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007492	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	1145322	\N	\N	EFO	3	EFO	infectious disease	splenic tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007492	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	4066731	\N	\N	EFO	6	EFO	material property	splenic tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007492	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	2027856	\N	\N	EFO	4	EFO	disease	splenic tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007492	"An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." []	5059375	\N	\N	EFO	7	EFO	experimental factor	splenic tuberculosis
EFO:0007493	\N	\N	"A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." []	EFO:0007493	"A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." []	68738	\N	\N	EFO	0	EFO	spondylolisthesis	spondylolisthesis
EFO:0004260	EFO:0007493	\N	"Diseases of BONES." []	EFO:0007493	"A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." []	210898	\N	\N	EFO	1	EFO	bone disease	spondylolisthesis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:0007493	"A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." []	564140	\N	\N	EFO	2	EFO	skeletal system disease	spondylolisthesis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007493	"A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." []	1145323	\N	\N	EFO	3	EFO	disease	spondylolisthesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007493	"A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." []	2027857	\N	\N	EFO	4	EFO	disposition	spondylolisthesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007493	"A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." []	3179238	\N	\N	EFO	5	EFO	material property	spondylolisthesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007493	"A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." []	4388678	\N	\N	EFO	6	EFO	experimental factor	spondylolisthesis
EFO:0007494	\N	\N	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation." []	EFO:0007494	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation." []	68739	\N	\N	EFO	0	EFO	sporotrichosis	sporotrichosis
EFO:0005741	EFO:0007494	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007494	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation." []	210899	\N	\N	EFO	1	EFO	infectious disease	sporotrichosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007494	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation." []	564141	\N	\N	EFO	2	EFO	disease	sporotrichosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007494	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation." []	1145324	\N	\N	EFO	3	EFO	disposition	sporotrichosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007494	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation." []	2027858	\N	\N	EFO	4	EFO	material property	sporotrichosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007494	"A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation." []	3179239	\N	\N	EFO	5	EFO	experimental factor	sporotrichosis
EFO:0007495	\N	\N	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis." []	EFO:0007495	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis." []	68740	\N	\N	EFO	0	EFO	St. Louis encephalitis	St. Louis encephalitis
EFO:0000763	EFO:0007495	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007495	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis." []	210900	\N	\N	EFO	1	EFO	viral disease	St. Louis encephalitis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007495	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis." []	564142	\N	\N	EFO	2	EFO	infectious disease	St. Louis encephalitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007495	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis." []	1145325	\N	\N	EFO	3	EFO	disease	St. Louis encephalitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007495	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis." []	2027859	\N	\N	EFO	4	EFO	disposition	St. Louis encephalitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007495	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis." []	3179240	\N	\N	EFO	5	EFO	material property	St. Louis encephalitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007495	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis." []	4388679	\N	\N	EFO	6	EFO	experimental factor	St. Louis encephalitis
EFO:0007496	\N	\N	"A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." []	EFO:0007496	"A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." []	68741	\N	\N	EFO	0	EFO	staphylococcal pneumonia	staphylococcal pneumonia
EFO:0003106	EFO:0007496	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:0007496	"A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." []	210901	\N	\N	EFO	1	EFO	pneumonia	staphylococcal pneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007496	"A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." []	564143	\N	\N	EFO	2	EFO	lung disease	staphylococcal pneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007496	"A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." []	564144	\N	\N	EFO	2	EFO	infectious disease	staphylococcal pneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007496	"A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." []	1145326	\N	\N	EFO	3	EFO	respiratory system disease	staphylococcal pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007496	"A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." []	1145327	\N	\N	EFO	3	EFO	disease	staphylococcal pneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007496	"A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." []	2027860	\N	\N	EFO	4	EFO	disease	staphylococcal pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007496	"A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." []	3179241	\N	\N	EFO	5	EFO	disposition	staphylococcal pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007496	"A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." []	4132772	\N	\N	EFO	6	EFO	material property	staphylococcal pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007496	"A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." []	5181059	\N	\N	EFO	7	EFO	experimental factor	staphylococcal pneumonia
EFO:0007497	\N	\N	"A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." []	EFO:0007497	"A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." []	68742	\N	\N	EFO	0	EFO	staphyloenterotoxemia	staphyloenterotoxemia
EFO:0000405	EFO:0007497	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007497	"A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." []	210902	\N	\N	EFO	1	EFO	digestive system disease	staphyloenterotoxemia
EFO:0000771	EFO:0007497	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007497	"A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." []	210903	\N	\N	EFO	1	EFO	bacterial disease	staphyloenterotoxemia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007497	"A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." []	564145	\N	\N	EFO	2	EFO	disease	staphyloenterotoxemia
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007497	"A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." []	564146	\N	\N	EFO	2	EFO	infectious disease	staphyloenterotoxemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007497	"A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." []	2027863	\N	\N	EFO	4	EFO	disposition	staphyloenterotoxemia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007497	"A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." []	1145329	\N	\N	EFO	3	EFO	disease	staphyloenterotoxemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007497	"A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." []	2999893	\N	\N	EFO	5	EFO	material property	staphyloenterotoxemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007497	"A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." []	4132773	\N	\N	EFO	6	EFO	experimental factor	staphyloenterotoxemia
EFO:0007498	\N	\N	"A movement disease that is of unknown etiology characterized by progressive rigidity." []	EFO:0007498	"A movement disease that is of unknown etiology characterized by progressive rigidity." []	68743	\N	\N	EFO	0	EFO	Stiff-Person syndrome	Stiff-Person syndrome
EFO:0004280	EFO:0007498	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	EFO:0007498	"A movement disease that is of unknown etiology characterized by progressive rigidity." []	210904	\N	\N	EFO	1	EFO	movement disorder	Stiff-Person syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007498	"A movement disease that is of unknown etiology characterized by progressive rigidity." []	564147	\N	\N	EFO	2	EFO	nervous system disease	Stiff-Person syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007498	"A movement disease that is of unknown etiology characterized by progressive rigidity." []	1145330	\N	\N	EFO	3	EFO	disease	Stiff-Person syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007498	"A movement disease that is of unknown etiology characterized by progressive rigidity." []	2027864	\N	\N	EFO	4	EFO	disposition	Stiff-Person syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007498	"A movement disease that is of unknown etiology characterized by progressive rigidity." []	3179244	\N	\N	EFO	5	EFO	material property	Stiff-Person syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007498	"A movement disease that is of unknown etiology characterized by progressive rigidity." []	4388681	\N	\N	EFO	6	EFO	experimental factor	Stiff-Person syndrome
EFO:0007499	\N	\N	"A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." []	EFO:0007499	"A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." []	68744	\N	\N	EFO	0	EFO	streptococcal pneumonia	streptococcal pneumonia
EFO:0003106	EFO:0007499	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:0007499	"A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." []	210905	\N	\N	EFO	1	EFO	pneumonia	streptococcal pneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007499	"A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." []	564148	\N	\N	EFO	2	EFO	lung disease	streptococcal pneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007499	"A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." []	564149	\N	\N	EFO	2	EFO	infectious disease	streptococcal pneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007499	"A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." []	1145331	\N	\N	EFO	3	EFO	respiratory system disease	streptococcal pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007499	"A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." []	1145332	\N	\N	EFO	3	EFO	disease	streptococcal pneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007499	"A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." []	2027865	\N	\N	EFO	4	EFO	disease	streptococcal pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007499	"A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." []	3179245	\N	\N	EFO	5	EFO	disposition	streptococcal pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007499	"A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." []	4132774	\N	\N	EFO	6	EFO	material property	streptococcal pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007499	"A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." []	5181060	\N	\N	EFO	7	EFO	experimental factor	streptococcal pneumonia
EFO:0007500	\N	\N	"A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida." []	EFO:0007500	"A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida." []	68745	\N	\N	EFO	0	EFO	Strongylida infectious disease	Strongylida infectious disease
EFO:0001067	EFO:0007500	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007500	"A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida." []	210906	\N	\N	EFO	1	EFO	parasitic infection	Strongylida infectious disease
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007500	"A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida." []	564150	\N	\N	EFO	2	EFO	infectious disease	Strongylida infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007500	"A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida." []	1145333	\N	\N	EFO	3	EFO	disease	Strongylida infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007500	"A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida." []	2027867	\N	\N	EFO	4	EFO	disposition	Strongylida infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007500	"A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida." []	3179247	\N	\N	EFO	5	EFO	material property	Strongylida infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007500	"A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida." []	4388683	\N	\N	EFO	6	EFO	experimental factor	Strongylida infectious disease
EFO:0007501	\N	\N	"A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis." []	EFO:0007501	"A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis." []	68746	\N	\N	EFO	0	EFO	strongyloidiasis	strongyloidiasis
EFO:0001067	EFO:0007501	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007501	"A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis." []	210907	\N	\N	EFO	1	EFO	parasitic infection	strongyloidiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007501	"A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis." []	564151	\N	\N	EFO	2	EFO	infectious disease	strongyloidiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007501	"A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis." []	1145334	\N	\N	EFO	3	EFO	disease	strongyloidiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007501	"A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis." []	2027868	\N	\N	EFO	4	EFO	disposition	strongyloidiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007501	"A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis." []	3179248	\N	\N	EFO	5	EFO	material property	strongyloidiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007501	"A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis." []	4388684	\N	\N	EFO	6	EFO	experimental factor	strongyloidiasis
EFO:0007502	\N	\N	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." []	EFO:0007502	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." []	68747	\N	\N	EFO	0	EFO	subacute sclerosing panencephalitis	subacute sclerosing panencephalitis
EFO:0000763	EFO:0007502	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007502	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." []	210908	\N	\N	EFO	1	EFO	viral disease	subacute sclerosing panencephalitis
EFO:0005774	EFO:0007502	\N	"A disease affecting the brain or part of the brain." []	EFO:0007502	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." []	210909	\N	\N	EFO	1	EFO	brain disease	subacute sclerosing panencephalitis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007502	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." []	564152	\N	\N	EFO	2	EFO	infectious disease	subacute sclerosing panencephalitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007502	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." []	564153	\N	\N	EFO	2	EFO	nervous system disease	subacute sclerosing panencephalitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007502	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." []	1145335	\N	\N	EFO	3	EFO	disease	subacute sclerosing panencephalitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007502	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." []	1145336	\N	\N	EFO	3	EFO	disease	subacute sclerosing panencephalitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007502	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." []	2027869	\N	\N	EFO	4	EFO	disposition	subacute sclerosing panencephalitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007502	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." []	3179249	\N	\N	EFO	5	EFO	material property	subacute sclerosing panencephalitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007502	"A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." []	4388685	\N	\N	EFO	6	EFO	experimental factor	subacute sclerosing panencephalitis
EFO:0007503	\N	\N	"A otitis media which involves inflammation of the middle ear with infected effusion containing pus." []	EFO:0007503	"A otitis media which involves inflammation of the middle ear with infected effusion containing pus." []	68748	\N	\N	EFO	0	EFO	suppurative otitis media	suppurative otitis media
EFO:0004992	EFO:0007503	\N	"An acute or chronic inflammatory process affecting the middle ear." []	EFO:0007503	"A otitis media which involves inflammation of the middle ear with infected effusion containing pus." []	210910	\N	\N	EFO	1	EFO	Otitis media	suppurative otitis media
EFO:0000524	EFO:0004992	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007503	"A otitis media which involves inflammation of the middle ear with infected effusion containing pus." []	564154	\N	\N	EFO	2	EFO	head disease	suppurative otitis media
EFO:1001455	EFO:0004992	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:0007503	"A otitis media which involves inflammation of the middle ear with infected effusion containing pus." []	564155	\N	\N	EFO	2	EFO	auditory system disease	suppurative otitis media
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007503	"A otitis media which involves inflammation of the middle ear with infected effusion containing pus." []	1145337	\N	\N	EFO	3	EFO	disease	suppurative otitis media
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0007503	"A otitis media which involves inflammation of the middle ear with infected effusion containing pus." []	1145338	\N	\N	EFO	3	EFO	sensory system disease	suppurative otitis media
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007503	"A otitis media which involves inflammation of the middle ear with infected effusion containing pus." []	4388687	\N	\N	EFO	6	EFO	disposition	suppurative otitis media
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007503	"A otitis media which involves inflammation of the middle ear with infected effusion containing pus." []	2027871	\N	\N	EFO	4	EFO	nervous system disease	suppurative otitis media
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007503	"A otitis media which involves inflammation of the middle ear with infected effusion containing pus." []	5059376	\N	\N	EFO	7	EFO	material property	suppurative otitis media
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007503	"A otitis media which involves inflammation of the middle ear with infected effusion containing pus." []	3179251	\N	\N	EFO	5	EFO	disease	suppurative otitis media
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007503	"A otitis media which involves inflammation of the middle ear with infected effusion containing pus." []	5876549	\N	\N	EFO	8	EFO	experimental factor	suppurative otitis media
EFO:0007504	\N	\N	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	EFO:0007504	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	68749	\N	\N	EFO	0	EFO	syphilis	syphilis
EFO:0000771	EFO:0007504	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007504	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	210911	\N	\N	EFO	1	EFO	bacterial disease	syphilis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007504	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	564156	\N	\N	EFO	2	EFO	infectious disease	syphilis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007504	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	1145339	\N	\N	EFO	3	EFO	disease	syphilis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007504	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	2027872	\N	\N	EFO	4	EFO	disposition	syphilis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007504	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	3179252	\N	\N	EFO	5	EFO	material property	syphilis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007504	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	4388688	\N	\N	EFO	6	EFO	experimental factor	syphilis
EFO:0007505	\N	\N	"A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction." []	EFO:0007505	"A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction." []	68750	\N	\N	EFO	0	EFO	tabes dorsalis	tabes dorsalis
EFO:0000618	EFO:0007505	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007505	"A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction." []	210912	\N	\N	EFO	1	EFO	nervous system disease	tabes dorsalis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007505	"A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction." []	564157	\N	\N	EFO	2	EFO	disease	tabes dorsalis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007505	"A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction." []	1145340	\N	\N	EFO	3	EFO	disposition	tabes dorsalis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007505	"A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction." []	2027873	\N	\N	EFO	4	EFO	material property	tabes dorsalis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007505	"A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction." []	3179253	\N	\N	EFO	5	EFO	experimental factor	tabes dorsalis
EFO:0007506	\N	\N	"A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks." []	EFO:0007506	"A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks." []	68751	\N	\N	EFO	0	EFO	theileriasis	theileriasis
EFO:0001067	EFO:0007506	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007506	"A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks." []	210913	\N	\N	EFO	1	EFO	parasitic infection	theileriasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007506	"A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks." []	564158	\N	\N	EFO	2	EFO	infectious disease	theileriasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007506	"A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks." []	1145341	\N	\N	EFO	3	EFO	disease	theileriasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007506	"A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks." []	2027874	\N	\N	EFO	4	EFO	disposition	theileriasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007506	"A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks." []	3179254	\N	\N	EFO	5	EFO	material property	theileriasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007506	"A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks." []	4388689	\N	\N	EFO	6	EFO	experimental factor	theileriasis
EFO:0007507	\N	\N	"A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles." []	EFO:0007507	"A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles." []	68752	\N	\N	EFO	0	EFO	thoracic outlet syndrome	thoracic outlet syndrome
EFO:0004264	EFO:0007507	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0007507	"A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles." []	210914	\N	\N	EFO	1	EFO	vascular disease	thoracic outlet syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007507	"A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles." []	564159	\N	\N	EFO	2	EFO	cardiovascular disease	thoracic outlet syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007507	"A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles." []	1145342	\N	\N	EFO	3	EFO	disease	thoracic outlet syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007507	"A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles." []	2027875	\N	\N	EFO	4	EFO	disposition	thoracic outlet syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007507	"A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles." []	3179255	\N	\N	EFO	5	EFO	material property	thoracic outlet syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007507	"A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles." []	4388690	\N	\N	EFO	6	EFO	experimental factor	thoracic outlet syndrome
EFO:0007508	\N	\N	"A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice." []	EFO:0007508	"A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice." []	68753	\N	\N	EFO	0	EFO	tick infestation	tick infestation
EFO:0001067	EFO:0007508	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007508	"A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice." []	210915	\N	\N	EFO	1	EFO	parasitic infection	tick infestation
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007508	"A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice." []	564160	\N	\N	EFO	2	EFO	infectious disease	tick infestation
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007508	"A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice." []	1145343	\N	\N	EFO	3	EFO	disease	tick infestation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007508	"A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice." []	2027876	\N	\N	EFO	4	EFO	disposition	tick infestation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007508	"A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice." []	3179256	\N	\N	EFO	5	EFO	material property	tick infestation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007508	"A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice." []	4388691	\N	\N	EFO	6	EFO	experimental factor	tick infestation
EFO:0007509	\N	\N	"A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage." []	EFO:0007509	"A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage." []	68754	\N	\N	EFO	0	EFO	tick paralysis	tick paralysis
EFO:0000618	EFO:0007509	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007509	"A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage." []	210916	\N	\N	EFO	1	EFO	nervous system disease	tick paralysis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007509	"A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage." []	564161	\N	\N	EFO	2	EFO	disease	tick paralysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007509	"A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage." []	1145344	\N	\N	EFO	3	EFO	disposition	tick paralysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007509	"A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage." []	2027877	\N	\N	EFO	4	EFO	material property	tick paralysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007509	"A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage." []	3179257	\N	\N	EFO	5	EFO	experimental factor	tick paralysis
EFO:0007510	\N	\N	"A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin." []	EFO:0007510	"A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin." []	68755	\N	\N	EFO	0	EFO	tinea	tinea
EFO:0005741	EFO:0007510	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007510	"A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin." []	210917	\N	\N	EFO	1	EFO	infectious disease	tinea
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007510	"A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin." []	564162	\N	\N	EFO	2	EFO	disease	tinea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007510	"A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin." []	1145345	\N	\N	EFO	3	EFO	disposition	tinea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007510	"A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin." []	2027878	\N	\N	EFO	4	EFO	material property	tinea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007510	"A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin." []	3179258	\N	\N	EFO	5	EFO	experimental factor	tinea
EFO:0007511	\N	\N	"A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring." []	EFO:0007511	"A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring." []	68756	\N	\N	EFO	0	EFO	tinea favosa	tinea favosa
EFO:0005741	EFO:0007511	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007511	"A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring." []	210918	\N	\N	EFO	1	EFO	infectious disease	tinea favosa
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007511	"A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring." []	564163	\N	\N	EFO	2	EFO	disease	tinea favosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007511	"A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring." []	1145346	\N	\N	EFO	3	EFO	disposition	tinea favosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007511	"A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring." []	2027879	\N	\N	EFO	4	EFO	material property	tinea favosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007511	"A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring." []	3179259	\N	\N	EFO	5	EFO	experimental factor	tinea favosa
EFO:0007512	\N	\N	"A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot." []	EFO:0007512	"A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot." []	68757	\N	\N	EFO	0	EFO	tinea pedis	tinea pedis
EFO:0000701	EFO:0007512	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:0007512	"A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot." []	210919	\N	\N	EFO	1	EFO	skin disease	tinea pedis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007512	"A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot." []	564164	\N	\N	EFO	2	EFO	disease	tinea pedis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007512	"A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot." []	1145347	\N	\N	EFO	3	EFO	disposition	tinea pedis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007512	"A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot." []	2027880	\N	\N	EFO	4	EFO	material property	tinea pedis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007512	"A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot." []	3179260	\N	\N	EFO	5	EFO	experimental factor	tinea pedis
EFO:0007513	\N	\N	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses." []	EFO:0007513	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses." []	68758	\N	\N	EFO	0	EFO	Togaviridae infectious disease	Togaviridae infectious disease
EFO:0000763	EFO:0007513	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007513	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses." []	210920	\N	\N	EFO	1	EFO	viral disease	Togaviridae infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007513	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses." []	564165	\N	\N	EFO	2	EFO	infectious disease	Togaviridae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007513	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses." []	1145348	\N	\N	EFO	3	EFO	disease	Togaviridae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007513	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses." []	2027881	\N	\N	EFO	4	EFO	disposition	Togaviridae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007513	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses." []	3179261	\N	\N	EFO	5	EFO	material property	Togaviridae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007513	"A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses." []	4388692	\N	\N	EFO	6	EFO	experimental factor	Togaviridae infectious disease
EFO:0007514	\N	\N	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces." []	EFO:0007514	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces." []	68759	\N	\N	EFO	0	EFO	Torovirus infectious disease	Torovirus infectious disease
EFO:0000763	EFO:0007514	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007514	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces." []	210921	\N	\N	EFO	1	EFO	viral disease	Torovirus infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007514	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces." []	564166	\N	\N	EFO	2	EFO	infectious disease	Torovirus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007514	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces." []	1145349	\N	\N	EFO	3	EFO	disease	Torovirus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007514	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces." []	2027882	\N	\N	EFO	4	EFO	disposition	Torovirus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007514	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces." []	3179262	\N	\N	EFO	5	EFO	material property	Torovirus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007514	"A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces." []	4388693	\N	\N	EFO	6	EFO	experimental factor	Torovirus infectious disease
EFO:0007515	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite." []	EFO:0007515	"A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite." []	68760	\N	\N	EFO	0	EFO	toxascariasis	toxascariasis
EFO:0001067	EFO:0007515	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007515	"A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite." []	210922	\N	\N	EFO	1	EFO	parasitic infection	toxascariasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007515	"A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite." []	564167	\N	\N	EFO	2	EFO	infectious disease	toxascariasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007515	"A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite." []	1145350	\N	\N	EFO	3	EFO	disease	toxascariasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007515	"A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite." []	2027883	\N	\N	EFO	4	EFO	disposition	toxascariasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007515	"A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite." []	3179263	\N	\N	EFO	5	EFO	material property	toxascariasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007515	"A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite." []	4388694	\N	\N	EFO	6	EFO	experimental factor	toxascariasis
EFO:0007516	\N	\N	"A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions." []	EFO:0007516	"A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions." []	68761	\N	\N	EFO	0	EFO	toxocariasis	toxocariasis
EFO:0001067	EFO:0007516	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007516	"A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions." []	210923	\N	\N	EFO	1	EFO	parasitic infection	toxocariasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007516	"A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions." []	564168	\N	\N	EFO	2	EFO	infectious disease	toxocariasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007516	"A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions." []	1145351	\N	\N	EFO	3	EFO	disease	toxocariasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007516	"A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions." []	2027884	\N	\N	EFO	4	EFO	disposition	toxocariasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007516	"A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions." []	3179264	\N	\N	EFO	5	EFO	material property	toxocariasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007516	"A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions." []	4388695	\N	\N	EFO	6	EFO	experimental factor	toxocariasis
EFO:0007517	\N	\N	"A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia." []	EFO:0007517	"A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia." []	68762	\N	\N	EFO	0	EFO	toxoplasmosis	toxoplasmosis
EFO:0001067	EFO:0007517	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007517	"A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia." []	210924	\N	\N	EFO	1	EFO	parasitic infection	toxoplasmosis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007517	"A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia." []	564169	\N	\N	EFO	2	EFO	infectious disease	toxoplasmosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007517	"A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia." []	1145352	\N	\N	EFO	3	EFO	disease	toxoplasmosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007517	"A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia." []	2027885	\N	\N	EFO	4	EFO	disposition	toxoplasmosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007517	"A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia." []	3179265	\N	\N	EFO	5	EFO	material property	toxoplasmosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007517	"A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia." []	4388696	\N	\N	EFO	6	EFO	experimental factor	toxoplasmosis
EFO:0007518	\N	\N	"A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." []	EFO:0007518	"A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." []	68763	\N	\N	EFO	0	EFO	tracheitis	tracheitis
EFO:0000684	EFO:0007518	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007518	"A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." []	210925	\N	\N	EFO	1	EFO	respiratory system disease	tracheitis
EFO:0000771	EFO:0007518	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007518	"A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." []	210926	\N	\N	EFO	1	EFO	bacterial disease	tracheitis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007518	"A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." []	564170	\N	\N	EFO	2	EFO	disease	tracheitis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007518	"A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." []	564171	\N	\N	EFO	2	EFO	infectious disease	tracheitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007518	"A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." []	2027887	\N	\N	EFO	4	EFO	disposition	tracheitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007518	"A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." []	1145354	\N	\N	EFO	3	EFO	disease	tracheitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007518	"A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." []	2999894	\N	\N	EFO	5	EFO	material property	tracheitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007518	"A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." []	4132775	\N	\N	EFO	6	EFO	experimental factor	tracheitis
EFO:0007519	\N	\N	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back." []	EFO:0007519	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back." []	68764	\N	\N	EFO	0	EFO	trench fever	trench fever
EFO:0000771	EFO:0007519	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007519	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back." []	210927	\N	\N	EFO	1	EFO	bacterial disease	trench fever
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007519	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back." []	564172	\N	\N	EFO	2	EFO	infectious disease	trench fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007519	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back." []	1145355	\N	\N	EFO	3	EFO	disease	trench fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007519	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back." []	2027888	\N	\N	EFO	4	EFO	disposition	trench fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007519	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back." []	3179267	\N	\N	EFO	5	EFO	material property	trench fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007519	"A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back." []	4388697	\N	\N	EFO	6	EFO	experimental factor	trench fever
EFO:0007520	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur." []	EFO:0007520	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur." []	68765	\N	\N	EFO	0	EFO	trichinosis	trichinosis
EFO:0001067	EFO:0007520	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007520	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur." []	210928	\N	\N	EFO	1	EFO	parasitic infection	trichinosis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007520	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur." []	564173	\N	\N	EFO	2	EFO	infectious disease	trichinosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007520	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur." []	1145356	\N	\N	EFO	3	EFO	disease	trichinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007520	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur." []	2027889	\N	\N	EFO	4	EFO	disposition	trichinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007520	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur." []	3179268	\N	\N	EFO	5	EFO	material property	trichinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007520	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur." []	4388698	\N	\N	EFO	6	EFO	experimental factor	trichinosis
EFO:0007521	\N	\N	"A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." []	EFO:0007521	"A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." []	68766	\N	\N	EFO	0	EFO	Trichomonas vaginitis	Trichomonas vaginitis
DOID:1947	EFO:0007521	\N	"A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." []	EFO:0007521	"A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." []	210929	\N	\N	EFO	1	EFO	trichomoniasis	Trichomonas vaginitis
EFO:0000512	EFO:0007521	\N	"any diease of the reproductive system" []	EFO:0007521	"A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." []	210930	\N	\N	EFO	1	EFO	reproductive system disease	Trichomonas vaginitis
EFO:0001067	DOID:1947	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007521	"A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." []	564174	\N	\N	EFO	2	EFO	parasitic infection	Trichomonas vaginitis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007521	"A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." []	564175	\N	\N	EFO	2	EFO	disease	Trichomonas vaginitis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007521	"A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." []	1145357	\N	\N	EFO	3	EFO	infectious disease	Trichomonas vaginitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007521	"A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." []	3179269	\N	\N	EFO	5	EFO	disposition	Trichomonas vaginitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007521	"A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." []	2027890	\N	\N	EFO	4	EFO	disease	Trichomonas vaginitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007521	"A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." []	4066732	\N	\N	EFO	6	EFO	material property	Trichomonas vaginitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007521	"A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." []	5059377	\N	\N	EFO	7	EFO	experimental factor	Trichomonas vaginitis
EFO:0007522	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." []	EFO:0007522	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." []	68767	\N	\N	EFO	0	EFO	trichostrongyloidiasis	trichostrongyloidiasis
EFO:0001067	EFO:0007522	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007522	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." []	210931	\N	\N	EFO	1	EFO	parasitic infection	trichostrongyloidiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007522	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." []	564176	\N	\N	EFO	2	EFO	infectious disease	trichostrongyloidiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007522	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." []	1145359	\N	\N	EFO	3	EFO	disease	trichostrongyloidiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007522	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." []	2027892	\N	\N	EFO	4	EFO	disposition	trichostrongyloidiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007522	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." []	3179271	\N	\N	EFO	5	EFO	material property	trichostrongyloidiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007522	"A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." []	4388699	\N	\N	EFO	6	EFO	experimental factor	trichostrongyloidiasis
EFO:0007523	\N	\N	"A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia." []	EFO:0007523	"A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia." []	68768	\N	\N	EFO	0	EFO	trichostrongylosis	trichostrongylosis
EFO:0001067	EFO:0007523	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007523	"A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia." []	210932	\N	\N	EFO	1	EFO	parasitic infection	trichostrongylosis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007523	"A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia." []	564177	\N	\N	EFO	2	EFO	infectious disease	trichostrongylosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007523	"A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia." []	1145360	\N	\N	EFO	3	EFO	disease	trichostrongylosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007523	"A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia." []	2027893	\N	\N	EFO	4	EFO	disposition	trichostrongylosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007523	"A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia." []	3179272	\N	\N	EFO	5	EFO	material property	trichostrongylosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007523	"A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia." []	4388700	\N	\N	EFO	6	EFO	experimental factor	trichostrongylosis
EFO:0007524	\N	\N	"A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." []	EFO:0007524	"A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." []	68769	\N	\N	EFO	0	EFO	trichuriasis	trichuriasis
EFO:0000405	EFO:0007524	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007524	"A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." []	210933	\N	\N	EFO	1	EFO	digestive system disease	trichuriasis
EFO:0001067	EFO:0007524	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007524	"A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." []	210934	\N	\N	EFO	1	EFO	parasitic infection	trichuriasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007524	"A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." []	564178	\N	\N	EFO	2	EFO	disease	trichuriasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007524	"A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." []	564179	\N	\N	EFO	2	EFO	infectious disease	trichuriasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007524	"A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." []	2027895	\N	\N	EFO	4	EFO	disposition	trichuriasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007524	"A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." []	1145362	\N	\N	EFO	3	EFO	disease	trichuriasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007524	"A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." []	2999895	\N	\N	EFO	5	EFO	material property	trichuriasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007524	"A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." []	4132776	\N	\N	EFO	6	EFO	experimental factor	trichuriasis
EFO:0007525	\N	\N	"A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." []	EFO:0007525	"A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." []	68770	\N	\N	EFO	0	EFO	tricuspid valve stenosis	tricuspid valve stenosis
EFO:0003777	EFO:0007525	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:0007525	"A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." []	210935	\N	\N	EFO	1	EFO	heart disease	tricuspid valve stenosis
EFO:0005775	EFO:0007525	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:0007525	"A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." []	210936	\N	\N	EFO	1	EFO	aortic disease	tricuspid valve stenosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007525	"A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." []	564180	\N	\N	EFO	2	EFO	cardiovascular disease	tricuspid valve stenosis
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:0007525	"A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." []	564181	\N	\N	EFO	2	EFO	vascular disease	tricuspid valve stenosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007525	"A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." []	2027897	\N	\N	EFO	4	EFO	disease	tricuspid valve stenosis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:0007525	"A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." []	1145364	\N	\N	EFO	3	EFO	cardiovascular disease	tricuspid valve stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007525	"A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." []	2999896	\N	\N	EFO	5	EFO	disposition	tricuspid valve stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007525	"A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." []	4132777	\N	\N	EFO	6	EFO	material property	tricuspid valve stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007525	"A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." []	5181061	\N	\N	EFO	7	EFO	experimental factor	tricuspid valve stenosis
EFO:0007526	\N	\N	"A mite infestation that involves rash caused by Leptotrombidium deliense." []	EFO:0007526	"A mite infestation that involves rash caused by Leptotrombidium deliense." []	68771	\N	\N	EFO	0	EFO	trombiculiasis	trombiculiasis
EFO:0001067	EFO:0007526	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007526	"A mite infestation that involves rash caused by Leptotrombidium deliense." []	210937	\N	\N	EFO	1	EFO	parasitic infection	trombiculiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007526	"A mite infestation that involves rash caused by Leptotrombidium deliense." []	564182	\N	\N	EFO	2	EFO	infectious disease	trombiculiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007526	"A mite infestation that involves rash caused by Leptotrombidium deliense." []	1145365	\N	\N	EFO	3	EFO	disease	trombiculiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007526	"A mite infestation that involves rash caused by Leptotrombidium deliense." []	2027898	\N	\N	EFO	4	EFO	disposition	trombiculiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007526	"A mite infestation that involves rash caused by Leptotrombidium deliense." []	3179275	\N	\N	EFO	5	EFO	material property	trombiculiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007526	"A mite infestation that involves rash caused by Leptotrombidium deliense." []	4388702	\N	\N	EFO	6	EFO	experimental factor	trombiculiasis
EFO:0007527	\N	\N	"A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." []	EFO:0007527	"A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." []	68772	\N	\N	EFO	0	EFO	tropical spastic paraparesis	tropical spastic paraparesis
EFO:0000618	EFO:0007527	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007527	"A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." []	210938	\N	\N	EFO	1	EFO	nervous system disease	tropical spastic paraparesis
EFO:0000763	EFO:0007527	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007527	"A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." []	210939	\N	\N	EFO	1	EFO	viral disease	tropical spastic paraparesis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007527	"A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." []	564183	\N	\N	EFO	2	EFO	disease	tropical spastic paraparesis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007527	"A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." []	564184	\N	\N	EFO	2	EFO	infectious disease	tropical spastic paraparesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007527	"A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." []	2027900	\N	\N	EFO	4	EFO	disposition	tropical spastic paraparesis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007527	"A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." []	1145367	\N	\N	EFO	3	EFO	disease	tropical spastic paraparesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007527	"A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." []	2999897	\N	\N	EFO	5	EFO	material property	tropical spastic paraparesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007527	"A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." []	4132778	\N	\N	EFO	6	EFO	experimental factor	tropical spastic paraparesis
EFO:0007528	\N	\N	"A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." []	EFO:0007528	"A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." []	68773	\N	\N	EFO	0	EFO	tuberculous empyema	tuberculous empyema
EFO:0003097	EFO:0007528	\N	"An accumulation of pus, usually in a body cavity" []	EFO:0007528	"A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." []	210940	\N	\N	EFO	1	EFO	empyema	tuberculous empyema
EFO:0000771	EFO:0003097	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007528	"A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." []	564185	\N	\N	EFO	2	EFO	bacterial disease	tuberculous empyema
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007528	"A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." []	1145368	\N	\N	EFO	3	EFO	infectious disease	tuberculous empyema
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007528	"A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." []	2027901	\N	\N	EFO	4	EFO	disease	tuberculous empyema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007528	"A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." []	3179277	\N	\N	EFO	5	EFO	disposition	tuberculous empyema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007528	"A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." []	4388703	\N	\N	EFO	6	EFO	material property	tuberculous empyema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007528	"A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." []	5408961	\N	\N	EFO	7	EFO	experimental factor	tuberculous empyema
EFO:0007529	\N	\N	"A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." []	EFO:0007529	"A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." []	68774	\N	\N	EFO	0	EFO	tuberculous peritonitis	tuberculous peritonitis
EFO:0007280	EFO:0007529	\N	"An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." []	EFO:0007529	"A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." []	210941	\N	\N	EFO	1	EFO	gastrointestinal tuberculosis	tuberculous peritonitis
Orphanet:3389	EFO:0007280	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007529	"A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." []	564186	\N	\N	EFO	2	EFO	Tuberculosis	tuberculous peritonitis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007529	"A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." []	1145369	\N	\N	EFO	3	EFO	respiratory system disease	tuberculous peritonitis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007529	"A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." []	1145370	\N	\N	EFO	3	EFO	bacterial disease	tuberculous peritonitis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007529	"A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." []	2027902	\N	\N	EFO	4	EFO	disease	tuberculous peritonitis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007529	"A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." []	2027903	\N	\N	EFO	4	EFO	infectious disease	tuberculous peritonitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007529	"A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." []	4388705	\N	\N	EFO	6	EFO	disposition	tuberculous peritonitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007529	"A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." []	3179279	\N	\N	EFO	5	EFO	disease	tuberculous peritonitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007529	"A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." []	5181062	\N	\N	EFO	7	EFO	material property	tuberculous peritonitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007529	"A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." []	5996630	\N	\N	EFO	8	EFO	experimental factor	tuberculous peritonitis
EFO:0007530	\N	\N	"A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer." []	EFO:0007530	"A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer." []	68775	\N	\N	EFO	0	EFO	urinary schistosomiasis	urinary schistosomiasis
EFO:0001067	EFO:0007530	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:0007530	"A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer." []	210942	\N	\N	EFO	1	EFO	parasitic infection	urinary schistosomiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007530	"A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer." []	564187	\N	\N	EFO	2	EFO	infectious disease	urinary schistosomiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007530	"A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer." []	1145371	\N	\N	EFO	3	EFO	disease	urinary schistosomiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007530	"A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer." []	2027904	\N	\N	EFO	4	EFO	disposition	urinary schistosomiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007530	"A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer." []	3179280	\N	\N	EFO	5	EFO	material property	urinary schistosomiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007530	"A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer." []	4388706	\N	\N	EFO	6	EFO	experimental factor	urinary schistosomiasis
EFO:0007531	\N	\N	"An extrapulmonary tuberculosis that is located_in urogenital system." []	EFO:0007531	"An extrapulmonary tuberculosis that is located_in urogenital system." []	68776	\N	\N	EFO	0	EFO	urogenital tuberculosis	urogenital tuberculosis
Orphanet:3389	EFO:0007531	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:0007531	"An extrapulmonary tuberculosis that is located_in urogenital system." []	210943	\N	\N	EFO	1	EFO	Tuberculosis	urogenital tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007531	"An extrapulmonary tuberculosis that is located_in urogenital system." []	564188	\N	\N	EFO	2	EFO	respiratory system disease	urogenital tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007531	"An extrapulmonary tuberculosis that is located_in urogenital system." []	564189	\N	\N	EFO	2	EFO	bacterial disease	urogenital tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007531	"An extrapulmonary tuberculosis that is located_in urogenital system." []	1145372	\N	\N	EFO	3	EFO	disease	urogenital tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007531	"An extrapulmonary tuberculosis that is located_in urogenital system." []	1145373	\N	\N	EFO	3	EFO	infectious disease	urogenital tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007531	"An extrapulmonary tuberculosis that is located_in urogenital system." []	3179282	\N	\N	EFO	5	EFO	disposition	urogenital tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007531	"An extrapulmonary tuberculosis that is located_in urogenital system." []	2027906	\N	\N	EFO	4	EFO	disease	urogenital tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007531	"An extrapulmonary tuberculosis that is located_in urogenital system." []	4132779	\N	\N	EFO	6	EFO	material property	urogenital tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007531	"An extrapulmonary tuberculosis that is located_in urogenital system." []	5181063	\N	\N	EFO	7	EFO	experimental factor	urogenital tuberculosis
EFO:0007532	\N	\N	"A uterine cancer that is located_in the uterine corpus." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	68777	\N	\N	EFO	0	EFO	uterine corpus cancer	uterine corpus cancer
EFO:0002919	EFO:0007532	\N	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	210944	\N	\N	EFO	1	EFO	uterine carcinoma	uterine corpus cancer
EFO:0000313	EFO:0002919	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	564190	\N	\N	EFO	2	EFO	carcinoma	uterine corpus cancer
EFO:0003859	EFO:0002919	\N	"Tumors or cancer of the UTERUS." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	564191	\N	\N	EFO	2	EFO	uterine neoplasm	uterine corpus cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	1145374	\N	\N	EFO	3	EFO	cancer	uterine corpus cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	1145375	\N	\N	EFO	3	EFO	epithelial neoplasm	uterine corpus cancer
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	1145376	\N	\N	EFO	3	EFO	reproductive system disease	uterine corpus cancer
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	1145377	\N	\N	EFO	3	EFO	urogenital neoplasm	uterine corpus cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	2027907	\N	\N	EFO	4	EFO	neoplasm	uterine corpus cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	2027908	\N	\N	EFO	4	EFO	neoplasm	uterine corpus cancer
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	2027909	\N	\N	EFO	4	EFO	disease	uterine corpus cancer
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	2027910	\N	\N	EFO	4	EFO	neoplasm	uterine corpus cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	3179283	\N	\N	EFO	5	EFO	disease	uterine corpus cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	4388708	\N	\N	EFO	6	EFO	disposition	uterine corpus cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	5181064	\N	\N	EFO	7	EFO	material property	uterine corpus cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007532	"A uterine cancer that is located_in the uterine corpus." []	5996631	\N	\N	EFO	8	EFO	experimental factor	uterine corpus cancer
EFO:0007533	\N	\N	"A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." []	EFO:0007533	"A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." []	68778	\N	\N	EFO	0	EFO	vasomotor rhinitis	vasomotor rhinitis
EFO:0005854	EFO:0007533	\N	"Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." []	EFO:0007533	"A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." []	210945	\N	\N	EFO	1	EFO	allergic rhinitis	vasomotor rhinitis
EFO:0003785	EFO:0005854	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:0007533	"A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." []	564192	\N	\N	EFO	2	EFO	allergy	vasomotor rhinitis
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:0007533	"A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." []	1145378	\N	\N	EFO	3	EFO	immune system disease	vasomotor rhinitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007533	"A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." []	2027911	\N	\N	EFO	4	EFO	disease	vasomotor rhinitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007533	"A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." []	3179285	\N	\N	EFO	5	EFO	disposition	vasomotor rhinitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007533	"A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." []	4388710	\N	\N	EFO	6	EFO	material property	vasomotor rhinitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007533	"A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." []	5408964	\N	\N	EFO	7	EFO	experimental factor	vasomotor rhinitis
EFO:0007534	\N	\N	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region." []	EFO:0007534	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region." []	68779	\N	\N	EFO	0	EFO	Venezuelan equine encephalitis	Venezuelan equine encephalitis
EFO:0001423	EFO:0007534	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:0007534	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region." []	210946	\N	\N	EFO	1	EFO	encephalomyelitis	Venezuelan equine encephalitis
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:0007534	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region." []	564193	\N	\N	EFO	2	EFO	central nervous system infection	Venezuelan equine encephalitis
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007534	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region." []	1145379	\N	\N	EFO	3	EFO	nervous system disease	Venezuelan equine encephalitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007534	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region." []	2027912	\N	\N	EFO	4	EFO	disease	Venezuelan equine encephalitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007534	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region." []	3179286	\N	\N	EFO	5	EFO	disposition	Venezuelan equine encephalitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007534	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region." []	4388711	\N	\N	EFO	6	EFO	material property	Venezuelan equine encephalitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007534	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region." []	5408965	\N	\N	EFO	7	EFO	experimental factor	Venezuelan equine encephalitis
EFO:0007535	\N	\N	"A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." []	EFO:0007535	"A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." []	68780	\N	\N	EFO	0	EFO	verrucous carcinoma	verrucous carcinoma
EFO:0000707	EFO:0007535	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:0007535	"A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." []	210947	\N	\N	EFO	1	EFO	squamous cell carcinoma	verrucous carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:0007535	"A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." []	564194	\N	\N	EFO	2	EFO	carcinoma	verrucous carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:0007535	"A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." []	1145380	\N	\N	EFO	3	EFO	cancer	verrucous carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:0007535	"A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." []	1145381	\N	\N	EFO	3	EFO	epithelial neoplasm	verrucous carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007535	"A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." []	2027913	\N	\N	EFO	4	EFO	neoplasm	verrucous carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007535	"A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." []	2027914	\N	\N	EFO	4	EFO	neoplasm	verrucous carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007535	"A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." []	3179287	\N	\N	EFO	5	EFO	disease	verrucous carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007535	"A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." []	4388712	\N	\N	EFO	6	EFO	disposition	verrucous carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007535	"A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." []	5408966	\N	\N	EFO	7	EFO	material property	verrucous carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007535	"A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." []	6147537	\N	\N	EFO	8	EFO	experimental factor	verrucous carcinoma
EFO:0007536	\N	\N	"A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." []	EFO:0007536	"A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." []	68781	\N	\N	EFO	0	EFO	vesicoureteral reflux	vesicoureteral reflux
EFO:1000018	EFO:0007536	\N	"A disorder affecting the urinary bladder" []	EFO:0007536	"A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." []	210948	\N	\N	EFO	1	EFO	bladder disease	vesicoureteral reflux
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007536	"A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." []	564195	\N	\N	EFO	2	EFO	disease	vesicoureteral reflux
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007536	"A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." []	1145382	\N	\N	EFO	3	EFO	disposition	vesicoureteral reflux
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007536	"A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." []	2027915	\N	\N	EFO	4	EFO	material property	vesicoureteral reflux
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007536	"A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." []	3179288	\N	\N	EFO	5	EFO	experimental factor	vesicoureteral reflux
EFO:0007537	\N	\N	"A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." []	EFO:0007537	"A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." []	68782	\N	\N	EFO	0	EFO	vestibular neuronitis	vestibular neuronitis
EFO:0000524	EFO:0007537	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:0007537	"A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." []	210949	\N	\N	EFO	1	EFO	head disease	vestibular neuronitis
EFO:1001455	EFO:0007537	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:0007537	"A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." []	210950	\N	\N	EFO	1	EFO	auditory system disease	vestibular neuronitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007537	"A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." []	564196	\N	\N	EFO	2	EFO	disease	vestibular neuronitis
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:0007537	"A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." []	564197	\N	\N	EFO	2	EFO	sensory system disease	vestibular neuronitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007537	"A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." []	3179290	\N	\N	EFO	5	EFO	disposition	vestibular neuronitis
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007537	"A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." []	1145384	\N	\N	EFO	3	EFO	nervous system disease	vestibular neuronitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007537	"A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." []	4066733	\N	\N	EFO	6	EFO	material property	vestibular neuronitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007537	"A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." []	2027917	\N	\N	EFO	4	EFO	disease	vestibular neuronitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007537	"A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." []	5059378	\N	\N	EFO	7	EFO	experimental factor	vestibular neuronitis
EFO:0007538	\N	\N	"An encephalitis that involves inflammation of the brain caused by viral infection." []	EFO:0007538	"An encephalitis that involves inflammation of the brain caused by viral infection." []	68783	\N	\N	EFO	0	EFO	viral encephalitis	viral encephalitis
EFO:0001423	EFO:0007538	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:0007538	"An encephalitis that involves inflammation of the brain caused by viral infection." []	210951	\N	\N	EFO	1	EFO	encephalomyelitis	viral encephalitis
EFO:0005774	EFO:0007538	\N	"A disease affecting the brain or part of the brain." []	EFO:0007538	"An encephalitis that involves inflammation of the brain caused by viral infection." []	210952	\N	\N	EFO	1	EFO	brain disease	viral encephalitis
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:0007538	"An encephalitis that involves inflammation of the brain caused by viral infection." []	564198	\N	\N	EFO	2	EFO	central nervous system infection	viral encephalitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007538	"An encephalitis that involves inflammation of the brain caused by viral infection." []	564199	\N	\N	EFO	2	EFO	nervous system disease	viral encephalitis
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007538	"An encephalitis that involves inflammation of the brain caused by viral infection." []	1145385	\N	\N	EFO	3	EFO	nervous system disease	viral encephalitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007538	"An encephalitis that involves inflammation of the brain caused by viral infection." []	2027918	\N	\N	EFO	4	EFO	disease	viral encephalitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007538	"An encephalitis that involves inflammation of the brain caused by viral infection." []	2999898	\N	\N	EFO	5	EFO	disposition	viral encephalitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007538	"An encephalitis that involves inflammation of the brain caused by viral infection." []	4132780	\N	\N	EFO	6	EFO	material property	viral encephalitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007538	"An encephalitis that involves inflammation of the brain caused by viral infection." []	5181065	\N	\N	EFO	7	EFO	experimental factor	viral encephalitis
EFO:0007539	\N	\N	"A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens." []	EFO:0007539	"A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens." []	68784	\N	\N	EFO	0	EFO	viral hemorrhagic septicemia	viral hemorrhagic septicemia
EFO:0005932	EFO:0007539	\N	"A disease that occurs in animals." []	EFO:0007539	"A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens." []	210953	\N	\N	EFO	1	EFO	animal disease	viral hemorrhagic septicemia
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007539	"A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens." []	564200	\N	\N	EFO	2	EFO	disease	viral hemorrhagic septicemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007539	"A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens." []	1145387	\N	\N	EFO	3	EFO	disposition	viral hemorrhagic septicemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007539	"A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens." []	2027920	\N	\N	EFO	4	EFO	material property	viral hemorrhagic septicemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007539	"A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens." []	3179292	\N	\N	EFO	5	EFO	experimental factor	viral hemorrhagic septicemia
EFO:0007540	\N	\N	"A hepatitis that involves viral infection causing inflammation of the liver." []	EFO:0007540	"A hepatitis that involves viral infection causing inflammation of the liver." []	68785	\N	\N	EFO	0	EFO	viral hepatitis	viral hepatitis
EFO:0004196	EFO:0007540	\N	"INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D)." []	EFO:0007540	"A hepatitis that involves viral infection causing inflammation of the liver." []	210954	\N	\N	EFO	1	EFO	viral human hepatitis infection	viral hepatitis
EFO:0000763	EFO:0004196	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007540	"A hepatitis that involves viral infection causing inflammation of the liver." []	564201	\N	\N	EFO	2	EFO	viral disease	viral hepatitis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007540	"A hepatitis that involves viral infection causing inflammation of the liver." []	1145388	\N	\N	EFO	3	EFO	infectious disease	viral hepatitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007540	"A hepatitis that involves viral infection causing inflammation of the liver." []	2027921	\N	\N	EFO	4	EFO	disease	viral hepatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007540	"A hepatitis that involves viral infection causing inflammation of the liver." []	3179293	\N	\N	EFO	5	EFO	disposition	viral hepatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007540	"A hepatitis that involves viral infection causing inflammation of the liver." []	4388714	\N	\N	EFO	6	EFO	material property	viral hepatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007540	"A hepatitis that involves viral infection causing inflammation of the liver." []	5408967	\N	\N	EFO	7	EFO	experimental factor	viral hepatitis
EFO:0007541	\N	\N	"A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." []	EFO:0007541	"A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." []	68786	\N	\N	EFO	0	EFO	viral pneumonia	viral pneumonia
EFO:0003106	EFO:0007541	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:0007541	"A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." []	210955	\N	\N	EFO	1	EFO	pneumonia	viral pneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:0007541	"A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." []	564202	\N	\N	EFO	2	EFO	lung disease	viral pneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007541	"A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." []	564203	\N	\N	EFO	2	EFO	infectious disease	viral pneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:0007541	"A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." []	1145389	\N	\N	EFO	3	EFO	respiratory system disease	viral pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007541	"A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." []	1145390	\N	\N	EFO	3	EFO	disease	viral pneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007541	"A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." []	2027922	\N	\N	EFO	4	EFO	disease	viral pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007541	"A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." []	3179294	\N	\N	EFO	5	EFO	disposition	viral pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007541	"A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." []	4132781	\N	\N	EFO	6	EFO	material property	viral pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007541	"A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." []	5181066	\N	\N	EFO	7	EFO	experimental factor	viral pneumonia
EFO:0007542	\N	\N	"A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." []	EFO:0007542	"A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." []	68787	\N	\N	EFO	0	EFO	visna	visna
EFO:0005774	EFO:0007542	\N	"A disease affecting the brain or part of the brain." []	EFO:0007542	"A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." []	210956	\N	\N	EFO	1	EFO	brain disease	visna
EFO:0005932	EFO:0007542	\N	"A disease that occurs in animals." []	EFO:0007542	"A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." []	210957	\N	\N	EFO	1	EFO	animal disease	visna
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007542	"A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." []	564204	\N	\N	EFO	2	EFO	nervous system disease	visna
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007542	"A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." []	564205	\N	\N	EFO	2	EFO	disease	visna
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007542	"A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." []	1145391	\N	\N	EFO	3	EFO	disease	visna
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007542	"A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." []	2027924	\N	\N	EFO	4	EFO	disposition	visna
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007542	"A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." []	2999899	\N	\N	EFO	5	EFO	material property	visna
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007542	"A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." []	4132782	\N	\N	EFO	6	EFO	experimental factor	visna
EFO:0007543	\N	\N	"A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge." []	EFO:0007543	"A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge." []	68788	\N	\N	EFO	0	EFO	vulvovaginal candidiasis	vulvovaginal candidiasis
EFO:0005741	EFO:0007543	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007543	"A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge." []	210958	\N	\N	EFO	1	EFO	infectious disease	vulvovaginal candidiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007543	"A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge." []	564206	\N	\N	EFO	2	EFO	disease	vulvovaginal candidiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007543	"A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge." []	1145393	\N	\N	EFO	3	EFO	disposition	vulvovaginal candidiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007543	"A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge." []	2027926	\N	\N	EFO	4	EFO	material property	vulvovaginal candidiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007543	"A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge." []	3179297	\N	\N	EFO	5	EFO	experimental factor	vulvovaginal candidiasis
EFO:0007544	\N	\N	"An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland." []	EFO:0007544	"An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland." []	68789	\N	\N	EFO	0	EFO	Waterhouse-Friderichsen syndrome	Waterhouse-Friderichsen syndrome
EFO:0005539	EFO:0007544	\N	"An endocrine system disease that is located_in the adrenal gland." []	EFO:0007544	"An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland." []	210959	\N	\N	EFO	1	EFO	adrenal gland disease	Waterhouse-Friderichsen syndrome
EFO:0001379	EFO:0005539	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0007544	"An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland." []	564207	\N	\N	EFO	2	EFO	endocrine system disease	Waterhouse-Friderichsen syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007544	"An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland." []	1145394	\N	\N	EFO	3	EFO	disease	Waterhouse-Friderichsen syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007544	"An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland." []	2027927	\N	\N	EFO	4	EFO	disposition	Waterhouse-Friderichsen syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007544	"An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland." []	3179298	\N	\N	EFO	5	EFO	material property	Waterhouse-Friderichsen syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007544	"An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland." []	4388716	\N	\N	EFO	6	EFO	experimental factor	Waterhouse-Friderichsen syndrome
EFO:0007545	\N	\N	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis." []	EFO:0007545	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis." []	68790	\N	\N	EFO	0	EFO	West Nile encephalitis	West Nile encephalitis
EFO:0000763	EFO:0007545	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:0007545	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis." []	210960	\N	\N	EFO	1	EFO	viral disease	West Nile encephalitis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007545	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis." []	564208	\N	\N	EFO	2	EFO	infectious disease	West Nile encephalitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007545	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis." []	1145395	\N	\N	EFO	3	EFO	disease	West Nile encephalitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007545	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis." []	2027928	\N	\N	EFO	4	EFO	disposition	West Nile encephalitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007545	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis." []	3179299	\N	\N	EFO	5	EFO	material property	West Nile encephalitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007545	"A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis." []	4388717	\N	\N	EFO	6	EFO	experimental factor	West Nile encephalitis
EFO:0007546	\N	\N	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." []	EFO:0007546	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." []	68791	\N	\N	EFO	0	EFO	Western equine encephalitis	Western equine encephalitis
EFO:0001423	EFO:0007546	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:0007546	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." []	210961	\N	\N	EFO	1	EFO	encephalomyelitis	Western equine encephalitis
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:0007546	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." []	564209	\N	\N	EFO	2	EFO	central nervous system infection	Western equine encephalitis
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:0007546	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." []	1145396	\N	\N	EFO	3	EFO	nervous system disease	Western equine encephalitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007546	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." []	2027929	\N	\N	EFO	4	EFO	disease	Western equine encephalitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007546	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." []	3179300	\N	\N	EFO	5	EFO	disposition	Western equine encephalitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007546	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." []	4388718	\N	\N	EFO	6	EFO	material property	Western equine encephalitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007546	"A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." []	5408968	\N	\N	EFO	7	EFO	experimental factor	Western equine encephalitis
EFO:0007547	\N	\N	"A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia." []	EFO:0007547	"A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia." []	68792	\N	\N	EFO	0	EFO	Wissler's syndrome	Wissler's syndrome
EFO:0000408	EFO:0007547	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007547	"A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia." []	210962	\N	\N	EFO	1	EFO	disease	Wissler's syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007547	"A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia." []	564210	\N	\N	EFO	2	EFO	disposition	Wissler's syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007547	"A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia." []	1145397	\N	\N	EFO	3	EFO	material property	Wissler's syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007547	"A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia." []	2027930	\N	\N	EFO	4	EFO	experimental factor	Wissler's syndrome
EFO:0007548	\N	\N	"A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions." []	EFO:0007548	"A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions." []	68793	\N	\N	EFO	0	EFO	yaws	yaws
EFO:0000771	EFO:0007548	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:0007548	"A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions." []	210963	\N	\N	EFO	1	EFO	bacterial disease	yaws
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:0007548	"A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions." []	564211	\N	\N	EFO	2	EFO	infectious disease	yaws
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007548	"A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions." []	1145398	\N	\N	EFO	3	EFO	disease	yaws
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007548	"A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions." []	2027931	\N	\N	EFO	4	EFO	disposition	yaws
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007548	"A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions." []	3179301	\N	\N	EFO	5	EFO	material property	yaws
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007548	"A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions." []	4388719	\N	\N	EFO	6	EFO	experimental factor	yaws
EFO:0007549	\N	\N	"A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach." []	EFO:0007549	"A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach." []	68794	\N	\N	EFO	0	EFO	Zollinger-Ellison Syndrome	Zollinger-Ellison Syndrome
EFO:0000616	EFO:0007549	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007549	"A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach." []	210964	\N	\N	EFO	1	EFO	neoplasm	Zollinger-Ellison Syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007549	"A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach." []	564212	\N	\N	EFO	2	EFO	disease	Zollinger-Ellison Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007549	"A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach." []	1145399	\N	\N	EFO	3	EFO	disposition	Zollinger-Ellison Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007549	"A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach." []	2027932	\N	\N	EFO	4	EFO	material property	Zollinger-Ellison Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007549	"A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach." []	3179302	\N	\N	EFO	5	EFO	experimental factor	Zollinger-Ellison Syndrome
EFO:0007550	\N	\N	"An image analysis technique combining automated fluorescence microscopy with multi-parameter quantitative image analysis for the large scale study of cells (cellomics)." []	EFO:0007550	"An image analysis technique combining automated fluorescence microscopy with multi-parameter quantitative image analysis for the large scale study of cells (cellomics)." []	68795	\N	\N	EFO	0	EFO	high content screen	high content screen
EFO:0005397	EFO:0007550	\N	"An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." []	EFO:0007550	"An image analysis technique combining automated fluorescence microscopy with multi-parameter quantitative image analysis for the large scale study of cells (cellomics)." []	210965	\N	\N	EFO	1	EFO	high content analysis of cells	high content screen
EFO:0002694	EFO:0005397	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007550	"An image analysis technique combining automated fluorescence microscopy with multi-parameter quantitative image analysis for the large scale study of cells (cellomics)." []	564213	\N	\N	EFO	2	EFO	experimental process	high content screen
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007550	"An image analysis technique combining automated fluorescence microscopy with multi-parameter quantitative image analysis for the large scale study of cells (cellomics)." []	1145400	\N	\N	EFO	3	EFO	planned process	high content screen
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007550	"An image analysis technique combining automated fluorescence microscopy with multi-parameter quantitative image analysis for the large scale study of cells (cellomics)." []	2027933	\N	\N	EFO	4	EFO	process	high content screen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007550	"An image analysis technique combining automated fluorescence microscopy with multi-parameter quantitative image analysis for the large scale study of cells (cellomics)." []	3179303	\N	\N	EFO	5	EFO	experimental factor	high content screen
EFO:0007551	\N	\N	"High throughput sample analysis of RNAi molecules for potential application in gene knockdown or gene silencing of target genes." []	EFO:0007551	"High throughput sample analysis of RNAi molecules for potential application in gene knockdown or gene silencing of target genes." []	68796	\N	\N	EFO	0	EFO	high content screen of cells treated with library of siRNAs	high content screen of cells treated with library of siRNAs
EFO:0007550	EFO:0007551	\N	"An image analysis technique combining automated fluorescence microscopy with multi-parameter quantitative image analysis for the large scale study of cells (cellomics)." []	EFO:0007551	"High throughput sample analysis of RNAi molecules for potential application in gene knockdown or gene silencing of target genes." []	210966	\N	\N	EFO	1	EFO	high content screen	high content screen of cells treated with library of siRNAs
EFO:0005397	EFO:0007550	\N	"An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." []	EFO:0007551	"High throughput sample analysis of RNAi molecules for potential application in gene knockdown or gene silencing of target genes." []	564214	\N	\N	EFO	2	EFO	high content analysis of cells	high content screen of cells treated with library of siRNAs
EFO:0002694	EFO:0005397	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007551	"High throughput sample analysis of RNAi molecules for potential application in gene knockdown or gene silencing of target genes." []	1145401	\N	\N	EFO	3	EFO	experimental process	high content screen of cells treated with library of siRNAs
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007551	"High throughput sample analysis of RNAi molecules for potential application in gene knockdown or gene silencing of target genes." []	2027934	\N	\N	EFO	4	EFO	planned process	high content screen of cells treated with library of siRNAs
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007551	"High throughput sample analysis of RNAi molecules for potential application in gene knockdown or gene silencing of target genes." []	3179304	\N	\N	EFO	5	EFO	process	high content screen of cells treated with library of siRNAs
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007551	"High throughput sample analysis of RNAi molecules for potential application in gene knockdown or gene silencing of target genes." []	4388720	\N	\N	EFO	6	EFO	experimental factor	high content screen of cells treated with library of siRNAs
EFO:0007552	\N	\N	"" []	EFO:0007552	"" []	68797	\N	\N	EFO	0	EFO	high content screen of cells in a gene deletion library	high content screen of cells in a gene deletion library
EFO:0007550	EFO:0007552	\N	"An image analysis technique combining automated fluorescence microscopy with multi-parameter quantitative image analysis for the large scale study of cells (cellomics)." []	EFO:0007552	"" []	210967	\N	\N	EFO	1	EFO	high content screen	high content screen of cells in a gene deletion library
EFO:0005397	EFO:0007550	\N	"An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." []	EFO:0007552	"" []	564215	\N	\N	EFO	2	EFO	high content analysis of cells	high content screen of cells in a gene deletion library
EFO:0002694	EFO:0005397	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007552	"" []	1145402	\N	\N	EFO	3	EFO	experimental process	high content screen of cells in a gene deletion library
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007552	"" []	2027935	\N	\N	EFO	4	EFO	planned process	high content screen of cells in a gene deletion library
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007552	"" []	3179305	\N	\N	EFO	5	EFO	process	high content screen of cells in a gene deletion library
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007552	"" []	4388721	\N	\N	EFO	6	EFO	experimental factor	high content screen of cells in a gene deletion library
EFO:0007553	\N	\N	"High throughput sample analysis of collections of compounds that provide a variety of chemically diverse structures that can be used to identify structure types that have affinity with pharmacological targets. " []	EFO:0007553	"High throughput sample analysis of collections of compounds that provide a variety of chemically diverse structures that can be used to identify structure types that have affinity with pharmacological targets. " []	68798	\N	\N	EFO	0	EFO	high content screen of cells in treated with a compound library	high content screen of cells in treated with a compound library
EFO:0007550	EFO:0007553	\N	"An image analysis technique combining automated fluorescence microscopy with multi-parameter quantitative image analysis for the large scale study of cells (cellomics)." []	EFO:0007553	"High throughput sample analysis of collections of compounds that provide a variety of chemically diverse structures that can be used to identify structure types that have affinity with pharmacological targets. " []	210968	\N	\N	EFO	1	EFO	high content screen	high content screen of cells in treated with a compound library
EFO:0005397	EFO:0007550	\N	"An image analysis technique combining automated microscopy, robotic handling, and quantitative image analysis for the large scale study of cells." []	EFO:0007553	"High throughput sample analysis of collections of compounds that provide a variety of chemically diverse structures that can be used to identify structure types that have affinity with pharmacological targets. " []	564216	\N	\N	EFO	2	EFO	high content analysis of cells	high content screen of cells in treated with a compound library
EFO:0002694	EFO:0005397	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007553	"High throughput sample analysis of collections of compounds that provide a variety of chemically diverse structures that can be used to identify structure types that have affinity with pharmacological targets. " []	1145403	\N	\N	EFO	3	EFO	experimental process	high content screen of cells in treated with a compound library
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007553	"High throughput sample analysis of collections of compounds that provide a variety of chemically diverse structures that can be used to identify structure types that have affinity with pharmacological targets. " []	2027936	\N	\N	EFO	4	EFO	planned process	high content screen of cells in treated with a compound library
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007553	"High throughput sample analysis of collections of compounds that provide a variety of chemically diverse structures that can be used to identify structure types that have affinity with pharmacological targets. " []	3179306	\N	\N	EFO	5	EFO	process	high content screen of cells in treated with a compound library
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007553	"High throughput sample analysis of collections of compounds that provide a variety of chemically diverse structures that can be used to identify structure types that have affinity with pharmacological targets. " []	4388722	\N	\N	EFO	6	EFO	experimental factor	high content screen of cells in treated with a compound library
EFO:0007554	\N	\N	"An experimental stage is spatiotemporal region encompassing some part of a scientic experimental process; e.g. primary, or secondary." []	EFO:0007554	"An experimental stage is spatiotemporal region encompassing some part of a scientic experimental process; e.g. primary, or secondary." []	68799	\N	\N	EFO	0	EFO	experimental stage	experimental stage
BFO:0000007	EFO:0007554	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007554	"An experimental stage is spatiotemporal region encompassing some part of a scientic experimental process; e.g. primary, or secondary." []	210969	\N	\N	EFO	1	EFO	process	experimental stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007554	"An experimental stage is spatiotemporal region encompassing some part of a scientic experimental process; e.g. primary, or secondary." []	564217	\N	\N	EFO	2	EFO	experimental factor	experimental stage
EFO:0007555	\N	\N	"An experimental stage describing stages of high content screen analysis" []	EFO:0007555	"An experimental stage describing stages of high content screen analysis" []	68800	\N	\N	EFO	0	EFO	high content screening stage	high content screening stage
EFO:0007554	EFO:0007555	\N	"An experimental stage is spatiotemporal region encompassing some part of a scientic experimental process; e.g. primary, or secondary." []	EFO:0007555	"An experimental stage describing stages of high content screen analysis" []	210970	\N	\N	EFO	1	EFO	experimental stage	high content screening stage
BFO:0000007	EFO:0007554	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007555	"An experimental stage describing stages of high content screen analysis" []	564218	\N	\N	EFO	2	EFO	process	high content screening stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007555	"An experimental stage describing stages of high content screen analysis" []	1145404	\N	\N	EFO	3	EFO	experimental factor	high content screening stage
EFO:0007556	\N	\N	"an initial, exploratory screen" []	EFO:0007556	"an initial, exploratory screen" []	68801	\N	\N	EFO	0	EFO	primary high content screen	primary high content screen
EFO:0007555	EFO:0007556	\N	"An experimental stage describing stages of high content screen analysis" []	EFO:0007556	"an initial, exploratory screen" []	210971	\N	\N	EFO	1	EFO	high content screening stage	primary high content screen
EFO:0007554	EFO:0007555	\N	"An experimental stage is spatiotemporal region encompassing some part of a scientic experimental process; e.g. primary, or secondary." []	EFO:0007556	"an initial, exploratory screen" []	564219	\N	\N	EFO	2	EFO	experimental stage	primary high content screen
BFO:0000007	EFO:0007554	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007556	"an initial, exploratory screen" []	1145405	\N	\N	EFO	3	EFO	process	primary high content screen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007556	"an initial, exploratory screen" []	2027937	\N	\N	EFO	4	EFO	experimental factor	primary high content screen
EFO:0007557	\N	\N	"a screen to investigate further potential genes or phenotypes of interest.  This screen may target orthologous genes in another species. " []	EFO:0007557	"a screen to investigate further potential genes or phenotypes of interest.  This screen may target orthologous genes in another species. " []	68802	\N	\N	EFO	0	EFO	secondary high content screen	secondary high content screen
EFO:0007555	EFO:0007557	\N	"An experimental stage describing stages of high content screen analysis" []	EFO:0007557	"a screen to investigate further potential genes or phenotypes of interest.  This screen may target orthologous genes in another species. " []	210972	\N	\N	EFO	1	EFO	high content screening stage	secondary high content screen
EFO:0007554	EFO:0007555	\N	"An experimental stage is spatiotemporal region encompassing some part of a scientic experimental process; e.g. primary, or secondary." []	EFO:0007557	"a screen to investigate further potential genes or phenotypes of interest.  This screen may target orthologous genes in another species. " []	564220	\N	\N	EFO	2	EFO	experimental stage	secondary high content screen
BFO:0000007	EFO:0007554	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007557	"a screen to investigate further potential genes or phenotypes of interest.  This screen may target orthologous genes in another species. " []	1145406	\N	\N	EFO	3	EFO	process	secondary high content screen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007557	"a screen to investigate further potential genes or phenotypes of interest.  This screen may target orthologous genes in another species. " []	2027938	\N	\N	EFO	4	EFO	experimental factor	secondary high content screen
EFO:0007558	\N	\N	"a screen to check whether the results in another screen are reproducible.  Usually a different reagent targetting genes of interest are used. " []	EFO:0007558	"a screen to check whether the results in another screen are reproducible.  Usually a different reagent targetting genes of interest are used. " []	68803	\N	\N	EFO	0	EFO	validation high content screen	validation high content screen
EFO:0007555	EFO:0007558	\N	"An experimental stage describing stages of high content screen analysis" []	EFO:0007558	"a screen to check whether the results in another screen are reproducible.  Usually a different reagent targetting genes of interest are used. " []	210973	\N	\N	EFO	1	EFO	high content screening stage	validation high content screen
EFO:0007554	EFO:0007555	\N	"An experimental stage is spatiotemporal region encompassing some part of a scientic experimental process; e.g. primary, or secondary." []	EFO:0007558	"a screen to check whether the results in another screen are reproducible.  Usually a different reagent targetting genes of interest are used. " []	564221	\N	\N	EFO	2	EFO	experimental stage	validation high content screen
BFO:0000007	EFO:0007554	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007558	"a screen to check whether the results in another screen are reproducible.  Usually a different reagent targetting genes of interest are used. " []	1145407	\N	\N	EFO	3	EFO	process	validation high content screen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007558	"a screen to check whether the results in another screen are reproducible.  Usually a different reagent targetting genes of interest are used. " []	2027939	\N	\N	EFO	4	EFO	experimental factor	validation high content screen
EFO:0007559	\N	\N	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	EFO:0007559	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	68804	\N	\N	EFO	0	EFO	screening library	screening library
EFO:0005066	EFO:0007559	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0007559	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	210974	\N	\N	EFO	1	EFO	collection of material	screening library
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007559	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	564222	\N	\N	EFO	2	EFO	material entity	screening library
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007559	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	1145408	\N	\N	EFO	3	EFO	experimental factor	screening library
EFO:0007560	\N	\N	"A collection of sets of cells in which a different target gene has been deleted in each set'" []	EFO:0007560	"A collection of sets of cells in which a different target gene has been deleted in each set'" []	68805	\N	\N	EFO	0	EFO	gene deletion library	gene deletion library
EFO:0007559	EFO:0007560	\N	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	EFO:0007560	"A collection of sets of cells in which a different target gene has been deleted in each set'" []	210975	\N	\N	EFO	1	EFO	screening library	gene deletion library
EFO:0005066	EFO:0007559	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0007560	"A collection of sets of cells in which a different target gene has been deleted in each set'" []	564223	\N	\N	EFO	2	EFO	collection of material	gene deletion library
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007560	"A collection of sets of cells in which a different target gene has been deleted in each set'" []	1145409	\N	\N	EFO	3	EFO	material entity	gene deletion library
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007560	"A collection of sets of cells in which a different target gene has been deleted in each set'" []	2027940	\N	\N	EFO	4	EFO	experimental factor	gene deletion library
EFO:0007561	\N	\N	"a collection of sets of haploid cells in which a different gene has been deleted in each set" []	EFO:0007561	"a collection of sets of haploid cells in which a different gene has been deleted in each set" []	68806	\N	\N	EFO	0	EFO	haploid deletion library	haploid deletion library
EFO:0007560	EFO:0007561	\N	"A collection of sets of cells in which a different target gene has been deleted in each set'" []	EFO:0007561	"a collection of sets of haploid cells in which a different gene has been deleted in each set" []	210976	\N	\N	EFO	1	EFO	gene deletion library	haploid deletion library
EFO:0007559	EFO:0007560	\N	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	EFO:0007561	"a collection of sets of haploid cells in which a different gene has been deleted in each set" []	564224	\N	\N	EFO	2	EFO	screening library	haploid deletion library
EFO:0005066	EFO:0007559	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0007561	"a collection of sets of haploid cells in which a different gene has been deleted in each set" []	1145410	\N	\N	EFO	3	EFO	collection of material	haploid deletion library
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007561	"a collection of sets of haploid cells in which a different gene has been deleted in each set" []	2027941	\N	\N	EFO	4	EFO	material entity	haploid deletion library
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007561	"a collection of sets of haploid cells in which a different gene has been deleted in each set" []	3179307	\N	\N	EFO	5	EFO	experimental factor	haploid deletion library
EFO:0007562	\N	\N	"a collection of sets of diploid cells in which a different gene has been deleted in each set, such that both copies of the gene has been deleted" []	EFO:0007562	"a collection of sets of diploid cells in which a different gene has been deleted in each set, such that both copies of the gene has been deleted" []	68807	\N	\N	EFO	0	EFO	diploid homozygous deletion library	diploid homozygous deletion library
EFO:0007560	EFO:0007562	\N	"A collection of sets of cells in which a different target gene has been deleted in each set'" []	EFO:0007562	"a collection of sets of diploid cells in which a different gene has been deleted in each set, such that both copies of the gene has been deleted" []	210977	\N	\N	EFO	1	EFO	gene deletion library	diploid homozygous deletion library
EFO:0007559	EFO:0007560	\N	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	EFO:0007562	"a collection of sets of diploid cells in which a different gene has been deleted in each set, such that both copies of the gene has been deleted" []	564225	\N	\N	EFO	2	EFO	screening library	diploid homozygous deletion library
EFO:0005066	EFO:0007559	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0007562	"a collection of sets of diploid cells in which a different gene has been deleted in each set, such that both copies of the gene has been deleted" []	1145411	\N	\N	EFO	3	EFO	collection of material	diploid homozygous deletion library
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007562	"a collection of sets of diploid cells in which a different gene has been deleted in each set, such that both copies of the gene has been deleted" []	2027942	\N	\N	EFO	4	EFO	material entity	diploid homozygous deletion library
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007562	"a collection of sets of diploid cells in which a different gene has been deleted in each set, such that both copies of the gene has been deleted" []	3179308	\N	\N	EFO	5	EFO	experimental factor	diploid homozygous deletion library
EFO:0007563	\N	\N	"Nucleic acid library that is comprised of small interfering RNA molecules." []	EFO:0007563	"Nucleic acid library that is comprised of small interfering RNA molecules." []	68808	\N	\N	EFO	0	EFO	RNAi library	RNAi library
EFO:0007559	EFO:0007563	\N	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	EFO:0007563	"Nucleic acid library that is comprised of small interfering RNA molecules." []	210978	\N	\N	EFO	1	EFO	screening library	RNAi library
EFO:0005066	EFO:0007559	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0007563	"Nucleic acid library that is comprised of small interfering RNA molecules." []	564226	\N	\N	EFO	2	EFO	collection of material	RNAi library
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007563	"Nucleic acid library that is comprised of small interfering RNA molecules." []	1145412	\N	\N	EFO	3	EFO	material entity	RNAi library
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007563	"Nucleic acid library that is comprised of small interfering RNA molecules." []	2027943	\N	\N	EFO	4	EFO	experimental factor	RNAi library
EFO:0007564	\N	\N	"RNAi library that is comprised of small (20-25 nucleotides) interfering RNA or silencing RNA that targets mRNA for degradation. siRNAs are synthetic double-stranded RNA. siRNA libraries are NOT in expression vectors. The siRNAs are directly transfected into cells." []	EFO:0007564	"RNAi library that is comprised of small (20-25 nucleotides) interfering RNA or silencing RNA that targets mRNA for degradation. siRNAs are synthetic double-stranded RNA. siRNA libraries are NOT in expression vectors. The siRNAs are directly transfected into cells." []	68809	\N	\N	EFO	0	EFO	siRNA library	siRNA library
EFO:0007563	EFO:0007564	\N	"Nucleic acid library that is comprised of small interfering RNA molecules." []	EFO:0007564	"RNAi library that is comprised of small (20-25 nucleotides) interfering RNA or silencing RNA that targets mRNA for degradation. siRNAs are synthetic double-stranded RNA. siRNA libraries are NOT in expression vectors. The siRNAs are directly transfected into cells." []	210979	\N	\N	EFO	1	EFO	RNAi library	siRNA library
EFO:0007559	EFO:0007563	\N	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	EFO:0007564	"RNAi library that is comprised of small (20-25 nucleotides) interfering RNA or silencing RNA that targets mRNA for degradation. siRNAs are synthetic double-stranded RNA. siRNA libraries are NOT in expression vectors. The siRNAs are directly transfected into cells." []	564227	\N	\N	EFO	2	EFO	screening library	siRNA library
EFO:0005066	EFO:0007559	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0007564	"RNAi library that is comprised of small (20-25 nucleotides) interfering RNA or silencing RNA that targets mRNA for degradation. siRNAs are synthetic double-stranded RNA. siRNA libraries are NOT in expression vectors. The siRNAs are directly transfected into cells." []	1145413	\N	\N	EFO	3	EFO	collection of material	siRNA library
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007564	"RNAi library that is comprised of small (20-25 nucleotides) interfering RNA or silencing RNA that targets mRNA for degradation. siRNAs are synthetic double-stranded RNA. siRNA libraries are NOT in expression vectors. The siRNAs are directly transfected into cells." []	2027944	\N	\N	EFO	4	EFO	material entity	siRNA library
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007564	"RNAi library that is comprised of small (20-25 nucleotides) interfering RNA or silencing RNA that targets mRNA for degradation. siRNAs are synthetic double-stranded RNA. siRNA libraries are NOT in expression vectors. The siRNAs are directly transfected into cells." []	3179309	\N	\N	EFO	5	EFO	experimental factor	siRNA library
EFO:0007565	\N	\N	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a recombinant protein with a polypeptide fusion partner or tag which can be used for protein detection " []	EFO:0007565	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a recombinant protein with a polypeptide fusion partner or tag which can be used for protein detection " []	68810	\N	\N	EFO	0	EFO	tag protein fusion library	tag protein fusion library
EFO:0007559	EFO:0007565	\N	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	EFO:0007565	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a recombinant protein with a polypeptide fusion partner or tag which can be used for protein detection " []	210980	\N	\N	EFO	1	EFO	screening library	tag protein fusion library
EFO:0005066	EFO:0007559	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0007565	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a recombinant protein with a polypeptide fusion partner or tag which can be used for protein detection " []	564228	\N	\N	EFO	2	EFO	collection of material	tag protein fusion library
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007565	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a recombinant protein with a polypeptide fusion partner or tag which can be used for protein detection " []	1145414	\N	\N	EFO	3	EFO	material entity	tag protein fusion library
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007565	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a recombinant protein with a polypeptide fusion partner or tag which can be used for protein detection " []	2027945	\N	\N	EFO	4	EFO	experimental factor	tag protein fusion library
EFO:0007566	\N	\N	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the GFP protein" []	EFO:0007566	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the GFP protein" []	68811	\N	\N	EFO	0	EFO	GFP protein fusion library	GFP protein fusion library
EFO:0007565	EFO:0007566	\N	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a recombinant protein with a polypeptide fusion partner or tag which can be used for protein detection " []	EFO:0007566	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the GFP protein" []	210981	\N	\N	EFO	1	EFO	tag protein fusion library	GFP protein fusion library
EFO:0007559	EFO:0007565	\N	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	EFO:0007566	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the GFP protein" []	564229	\N	\N	EFO	2	EFO	screening library	GFP protein fusion library
EFO:0005066	EFO:0007559	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0007566	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the GFP protein" []	1145415	\N	\N	EFO	3	EFO	collection of material	GFP protein fusion library
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007566	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the GFP protein" []	2027946	\N	\N	EFO	4	EFO	material entity	GFP protein fusion library
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007566	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the GFP protein" []	3179310	\N	\N	EFO	5	EFO	experimental factor	GFP protein fusion library
EFO:0007567	\N	\N	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the YFP protein" []	EFO:0007567	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the YFP protein" []	68812	\N	\N	EFO	0	EFO	YFP protein fusion library	YFP protein fusion library
EFO:0007565	EFO:0007567	\N	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a recombinant protein with a polypeptide fusion partner or tag which can be used for protein detection " []	EFO:0007567	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the YFP protein" []	210982	\N	\N	EFO	1	EFO	tag protein fusion library	YFP protein fusion library
EFO:0007559	EFO:0007565	\N	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	EFO:0007567	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the YFP protein" []	564230	\N	\N	EFO	2	EFO	screening library	YFP protein fusion library
EFO:0005066	EFO:0007559	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0007567	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the YFP protein" []	1145416	\N	\N	EFO	3	EFO	collection of material	YFP protein fusion library
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007567	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the YFP protein" []	2027947	\N	\N	EFO	4	EFO	material entity	YFP protein fusion library
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007567	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with the YFP protein" []	3179311	\N	\N	EFO	5	EFO	experimental factor	YFP protein fusion library
EFO:0007568	\N	\N	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with HA and FLAG protein epitopes" []	EFO:0007568	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with HA and FLAG protein epitopes" []	68813	\N	\N	EFO	0	EFO	HA-Flag protein fusion library	HA-Flag protein fusion library
EFO:0007565	EFO:0007568	\N	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a recombinant protein with a polypeptide fusion partner or tag which can be used for protein detection " []	EFO:0007568	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with HA and FLAG protein epitopes" []	210983	\N	\N	EFO	1	EFO	tag protein fusion library	HA-Flag protein fusion library
EFO:0007559	EFO:0007565	\N	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	EFO:0007568	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with HA and FLAG protein epitopes" []	564231	\N	\N	EFO	2	EFO	screening library	HA-Flag protein fusion library
EFO:0005066	EFO:0007559	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0007568	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with HA and FLAG protein epitopes" []	1145417	\N	\N	EFO	3	EFO	collection of material	HA-Flag protein fusion library
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007568	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with HA and FLAG protein epitopes" []	2027948	\N	\N	EFO	4	EFO	material entity	HA-Flag protein fusion library
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007568	"a collection of sets of cells in which a different gene is targetted in each set such that it results in a protein fused with HA and FLAG protein epitopes" []	3179312	\N	\N	EFO	5	EFO	experimental factor	HA-Flag protein fusion library
EFO:0007569	\N	\N	" The name of a small molecule collection from one source, which can be either commercial or academic, e.g., MLSMR, LOPAC, etc. This collection is generally diverse and contains compounds that modulate diverse biological targets." []	EFO:0007569	" The name of a small molecule collection from one source, which can be either commercial or academic, e.g., MLSMR, LOPAC, etc. This collection is generally diverse and contains compounds that modulate diverse biological targets." []	68814	\N	\N	EFO	0	EFO	compound library	compound library
EFO:0007559	EFO:0007569	\N	"a screening library is a collection of materials engineered to identify qualities of a subset of its members during a screening process?" []	EFO:0007569	" The name of a small molecule collection from one source, which can be either commercial or academic, e.g., MLSMR, LOPAC, etc. This collection is generally diverse and contains compounds that modulate diverse biological targets." []	210984	\N	\N	EFO	1	EFO	screening library	compound library
EFO:0005066	EFO:0007559	\N	"A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials." []	EFO:0007569	" The name of a small molecule collection from one source, which can be either commercial or academic, e.g., MLSMR, LOPAC, etc. This collection is generally diverse and contains compounds that modulate diverse biological targets." []	564232	\N	\N	EFO	2	EFO	collection of material	compound library
BFO:0000040	EFO:0005066	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007569	" The name of a small molecule collection from one source, which can be either commercial or academic, e.g., MLSMR, LOPAC, etc. This collection is generally diverse and contains compounds that modulate diverse biological targets." []	1145418	\N	\N	EFO	3	EFO	material entity	compound library
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007569	" The name of a small molecule collection from one source, which can be either commercial or academic, e.g., MLSMR, LOPAC, etc. This collection is generally diverse and contains compounds that modulate diverse biological targets." []	2027949	\N	\N	EFO	4	EFO	experimental factor	compound library
EFO:0007570	\N	\N	"A protocol which describes a part of the process in performing a High Content Screen experiment" []	EFO:0007570	"A protocol which describes a part of the process in performing a High Content Screen experiment" []	68815	\N	\N	EFO	0	EFO	HCS protocol	HCS protocol
OBI:0000272	EFO:0007570	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0007570	"A protocol which describes a part of the process in performing a High Content Screen experiment" []	210985	\N	\N	EFO	1	EFO	protocol	HCS protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007570	"A protocol which describes a part of the process in performing a High Content Screen experiment" []	564233	\N	\N	EFO	2	EFO	information entity	HCS protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007570	"A protocol which describes a part of the process in performing a High Content Screen experiment" []	1145419	\N	\N	EFO	3	EFO	experimental factor	HCS protocol
EFO:0007571	\N	\N	"A protocol which provides instructions on how to create the library used in an High Content Screen experiment." []	EFO:0007571	"A protocol which provides instructions on how to create the library used in an High Content Screen experiment." []	68816	\N	\N	EFO	0	EFO	HCS library protocol	HCS library protocol
EFO:0007570	EFO:0007571	\N	"A protocol which describes a part of the process in performing a High Content Screen experiment" []	EFO:0007571	"A protocol which provides instructions on how to create the library used in an High Content Screen experiment." []	210986	\N	\N	EFO	1	EFO	HCS protocol	HCS library protocol
OBI:0000272	EFO:0007570	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0007571	"A protocol which provides instructions on how to create the library used in an High Content Screen experiment." []	564234	\N	\N	EFO	2	EFO	protocol	HCS library protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007571	"A protocol which provides instructions on how to create the library used in an High Content Screen experiment." []	1145420	\N	\N	EFO	3	EFO	information entity	HCS library protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007571	"A protocol which provides instructions on how to create the library used in an High Content Screen experiment." []	2027950	\N	\N	EFO	4	EFO	experimental factor	HCS library protocol
EFO:0007572	\N	\N	"A protocol which provides instructions on how to obtain images and extract features from the images in an High Content Screen experiment." []	EFO:0007572	"A protocol which provides instructions on how to obtain images and extract features from the images in an High Content Screen experiment." []	68817	\N	\N	EFO	0	EFO	HCS image acquistion and feature extraction protocol	HCS image acquistion and feature extraction protocol
EFO:0007570	EFO:0007572	\N	"A protocol which describes a part of the process in performing a High Content Screen experiment" []	EFO:0007572	"A protocol which provides instructions on how to obtain images and extract features from the images in an High Content Screen experiment." []	210987	\N	\N	EFO	1	EFO	HCS protocol	HCS image acquistion and feature extraction protocol
OBI:0000272	EFO:0007570	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0007572	"A protocol which provides instructions on how to obtain images and extract features from the images in an High Content Screen experiment." []	564235	\N	\N	EFO	2	EFO	protocol	HCS image acquistion and feature extraction protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007572	"A protocol which provides instructions on how to obtain images and extract features from the images in an High Content Screen experiment." []	1145421	\N	\N	EFO	3	EFO	information entity	HCS image acquistion and feature extraction protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007572	"A protocol which provides instructions on how to obtain images and extract features from the images in an High Content Screen experiment." []	2027951	\N	\N	EFO	4	EFO	experimental factor	HCS image acquistion and feature extraction protocol
EFO:0007573	\N	\N	"A protocol which provides instructions on how to analyse or interpret the results from images or feature profiles in a High Content Screen experiment" []	EFO:0007573	"A protocol which provides instructions on how to analyse or interpret the results from images or feature profiles in a High Content Screen experiment" []	68818	\N	\N	EFO	0	EFO	HCS data analysis protocol	HCS data analysis protocol
EFO:0007570	EFO:0007573	\N	"A protocol which describes a part of the process in performing a High Content Screen experiment" []	EFO:0007573	"A protocol which provides instructions on how to analyse or interpret the results from images or feature profiles in a High Content Screen experiment" []	210988	\N	\N	EFO	1	EFO	HCS protocol	HCS data analysis protocol
OBI:0000272	EFO:0007570	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	EFO:0007573	"A protocol which provides instructions on how to analyse or interpret the results from images or feature profiles in a High Content Screen experiment" []	564236	\N	\N	EFO	2	EFO	protocol	HCS data analysis protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007573	"A protocol which provides instructions on how to analyse or interpret the results from images or feature profiles in a High Content Screen experiment" []	1145422	\N	\N	EFO	3	EFO	information entity	HCS data analysis protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007573	"A protocol which provides instructions on how to analyse or interpret the results from images or feature profiles in a High Content Screen experiment" []	2027952	\N	\N	EFO	4	EFO	experimental factor	HCS data analysis protocol
EFO:0007574	\N	\N	"quantification of some toxic metal in a blood sample" []	EFO:0007574	"quantification of some toxic metal in a blood sample" []	68819	\N	\N	EFO	0	EFO	blood toxic metal measurement	blood toxic metal measurement
EFO:0001444	EFO:0007574	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007574	"quantification of some toxic metal in a blood sample" []	210989	\N	\N	EFO	1	EFO	measurement	blood toxic metal measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007574	"quantification of some toxic metal in a blood sample" []	564237	\N	\N	EFO	2	EFO	information entity	blood toxic metal measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007574	"quantification of some toxic metal in a blood sample" []	1145423	\N	\N	EFO	3	EFO	experimental factor	blood toxic metal measurement
EFO:0007575	\N	\N	"quantification of some aluminium in a blood sample" []	EFO:0007575	"quantification of some aluminium in a blood sample" []	68820	\N	\N	EFO	0	EFO	blood aluminium measurement	blood aluminium measurement
EFO:0007574	EFO:0007575	\N	"quantification of some toxic metal in a blood sample" []	EFO:0007575	"quantification of some aluminium in a blood sample" []	210990	\N	\N	EFO	1	EFO	blood toxic metal measurement	blood aluminium measurement
EFO:0001444	EFO:0007574	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007575	"quantification of some aluminium in a blood sample" []	564238	\N	\N	EFO	2	EFO	measurement	blood aluminium measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007575	"quantification of some aluminium in a blood sample" []	1145424	\N	\N	EFO	3	EFO	information entity	blood aluminium measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007575	"quantification of some aluminium in a blood sample" []	2027953	\N	\N	EFO	4	EFO	experimental factor	blood aluminium measurement
EFO:0007576	\N	\N	"quantification of some cadmium in a blood sample" []	EFO:0007576	"quantification of some cadmium in a blood sample" []	68821	\N	\N	EFO	0	EFO	blood cadmium measurement	blood cadmium measurement
EFO:0007574	EFO:0007576	\N	"quantification of some toxic metal in a blood sample" []	EFO:0007576	"quantification of some cadmium in a blood sample" []	210991	\N	\N	EFO	1	EFO	blood toxic metal measurement	blood cadmium measurement
EFO:0001444	EFO:0007574	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007576	"quantification of some cadmium in a blood sample" []	564239	\N	\N	EFO	2	EFO	measurement	blood cadmium measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007576	"quantification of some cadmium in a blood sample" []	1145425	\N	\N	EFO	3	EFO	information entity	blood cadmium measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007576	"quantification of some cadmium in a blood sample" []	2027954	\N	\N	EFO	4	EFO	experimental factor	blood cadmium measurement
EFO:0007577	\N	\N	"quantification of some cobalt in a blood sample" []	EFO:0007577	"quantification of some cobalt in a blood sample" []	68822	\N	\N	EFO	0	EFO	blood cobalt measurement	blood cobalt measurement
EFO:0007574	EFO:0007577	\N	"quantification of some toxic metal in a blood sample" []	EFO:0007577	"quantification of some cobalt in a blood sample" []	210992	\N	\N	EFO	1	EFO	blood toxic metal measurement	blood cobalt measurement
EFO:0001444	EFO:0007574	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007577	"quantification of some cobalt in a blood sample" []	564240	\N	\N	EFO	2	EFO	measurement	blood cobalt measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007577	"quantification of some cobalt in a blood sample" []	1145426	\N	\N	EFO	3	EFO	information entity	blood cobalt measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007577	"quantification of some cobalt in a blood sample" []	2027955	\N	\N	EFO	4	EFO	experimental factor	blood cobalt measurement
EFO:0007578	\N	\N	"quantification of some copper in a blood sample" []	EFO:0007578	"quantification of some copper in a blood sample" []	68823	\N	\N	EFO	0	EFO	blood copper measurement	blood copper measurement
EFO:0007574	EFO:0007578	\N	"quantification of some toxic metal in a blood sample" []	EFO:0007578	"quantification of some copper in a blood sample" []	210993	\N	\N	EFO	1	EFO	blood toxic metal measurement	blood copper measurement
EFO:0001444	EFO:0007574	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007578	"quantification of some copper in a blood sample" []	564241	\N	\N	EFO	2	EFO	measurement	blood copper measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007578	"quantification of some copper in a blood sample" []	1145427	\N	\N	EFO	3	EFO	information entity	blood copper measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007578	"quantification of some copper in a blood sample" []	2027956	\N	\N	EFO	4	EFO	experimental factor	blood copper measurement
EFO:0007579	\N	\N	"quantification of some chromium in a blood sample" []	EFO:0007579	"quantification of some chromium in a blood sample" []	68824	\N	\N	EFO	0	EFO	blood chromium measurement	blood chromium measurement
EFO:0007574	EFO:0007579	\N	"quantification of some toxic metal in a blood sample" []	EFO:0007579	"quantification of some chromium in a blood sample" []	210994	\N	\N	EFO	1	EFO	blood toxic metal measurement	blood chromium measurement
EFO:0001444	EFO:0007574	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007579	"quantification of some chromium in a blood sample" []	564242	\N	\N	EFO	2	EFO	measurement	blood chromium measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007579	"quantification of some chromium in a blood sample" []	1145428	\N	\N	EFO	3	EFO	information entity	blood chromium measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007579	"quantification of some chromium in a blood sample" []	2027957	\N	\N	EFO	4	EFO	experimental factor	blood chromium measurement
EFO:0007580	\N	\N	"quantification of some mercury in a blood sample" []	EFO:0007580	"quantification of some mercury in a blood sample" []	68825	\N	\N	EFO	0	EFO	blood mercury measurement	blood mercury measurement
EFO:0007574	EFO:0007580	\N	"quantification of some toxic metal in a blood sample" []	EFO:0007580	"quantification of some mercury in a blood sample" []	210995	\N	\N	EFO	1	EFO	blood toxic metal measurement	blood mercury measurement
EFO:0001444	EFO:0007574	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007580	"quantification of some mercury in a blood sample" []	564243	\N	\N	EFO	2	EFO	measurement	blood mercury measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007580	"quantification of some mercury in a blood sample" []	1145429	\N	\N	EFO	3	EFO	information entity	blood mercury measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007580	"quantification of some mercury in a blood sample" []	2027958	\N	\N	EFO	4	EFO	experimental factor	blood mercury measurement
EFO:0007581	\N	\N	"quantification of some manganese in a blood sample" []	EFO:0007581	"quantification of some manganese in a blood sample" []	68826	\N	\N	EFO	0	EFO	blood manganese measurement	blood manganese measurement
EFO:0007574	EFO:0007581	\N	"quantification of some toxic metal in a blood sample" []	EFO:0007581	"quantification of some manganese in a blood sample" []	210996	\N	\N	EFO	1	EFO	blood toxic metal measurement	blood manganese measurement
EFO:0001444	EFO:0007574	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007581	"quantification of some manganese in a blood sample" []	564244	\N	\N	EFO	2	EFO	measurement	blood manganese measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007581	"quantification of some manganese in a blood sample" []	1145430	\N	\N	EFO	3	EFO	information entity	blood manganese measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007581	"quantification of some manganese in a blood sample" []	2027959	\N	\N	EFO	4	EFO	experimental factor	blood manganese measurement
EFO:0007582	\N	\N	"quantification of some molybdenum in a blood sample" []	EFO:0007582	"quantification of some molybdenum in a blood sample" []	68827	\N	\N	EFO	0	EFO	blood molybdenum measurement	blood molybdenum measurement
EFO:0007574	EFO:0007582	\N	"quantification of some toxic metal in a blood sample" []	EFO:0007582	"quantification of some molybdenum in a blood sample" []	210997	\N	\N	EFO	1	EFO	blood toxic metal measurement	blood molybdenum measurement
EFO:0001444	EFO:0007574	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007582	"quantification of some molybdenum in a blood sample" []	564245	\N	\N	EFO	2	EFO	measurement	blood molybdenum measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007582	"quantification of some molybdenum in a blood sample" []	1145431	\N	\N	EFO	3	EFO	information entity	blood molybdenum measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007582	"quantification of some molybdenum in a blood sample" []	2027960	\N	\N	EFO	4	EFO	experimental factor	blood molybdenum measurement
EFO:0007583	\N	\N	"quantification of some nickel in a blood sample" []	EFO:0007583	"quantification of some nickel in a blood sample" []	68828	\N	\N	EFO	0	EFO	blood nickel measurement	blood nickel measurement
EFO:0007574	EFO:0007583	\N	"quantification of some toxic metal in a blood sample" []	EFO:0007583	"quantification of some nickel in a blood sample" []	210998	\N	\N	EFO	1	EFO	blood toxic metal measurement	blood nickel measurement
EFO:0001444	EFO:0007574	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007583	"quantification of some nickel in a blood sample" []	564246	\N	\N	EFO	2	EFO	measurement	blood nickel measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007583	"quantification of some nickel in a blood sample" []	1145432	\N	\N	EFO	3	EFO	information entity	blood nickel measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007583	"quantification of some nickel in a blood sample" []	2027961	\N	\N	EFO	4	EFO	experimental factor	blood nickel measurement
EFO:0007584	\N	\N	"quantification of some zinc in a blood sample" []	EFO:0007584	"quantification of some zinc in a blood sample" []	68829	\N	\N	EFO	0	EFO	blood zinc measurement	blood zinc measurement
EFO:0007574	EFO:0007584	\N	"quantification of some toxic metal in a blood sample" []	EFO:0007584	"quantification of some zinc in a blood sample" []	210999	\N	\N	EFO	1	EFO	blood toxic metal measurement	blood zinc measurement
EFO:0001444	EFO:0007574	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007584	"quantification of some zinc in a blood sample" []	564247	\N	\N	EFO	2	EFO	measurement	blood zinc measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007584	"quantification of some zinc in a blood sample" []	1145433	\N	\N	EFO	3	EFO	information entity	blood zinc measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007584	"quantification of some zinc in a blood sample" []	2027962	\N	\N	EFO	4	EFO	experimental factor	blood zinc measurement
EFO:0007585	\N	\N	"The consumption of the recreational drug cannabis (also known as marijuna and a number of other colloquial names). Cannabis use is illegal in some countries but not in others." []	EFO:0007585	"The consumption of the recreational drug cannabis (also known as marijuna and a number of other colloquial names). Cannabis use is illegal in some countries but not in others." []	68830	\N	\N	EFO	0	EFO	Cannabis use	Cannabis use
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0007585	"The consumption of the recreational drug cannabis (also known as marijuna and a number of other colloquial names). Cannabis use is illegal in some countries but not in others." []	194863	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	Cannabis use
EFO:0007586	\N	\N	"initiation of the use of cannabis, either regular or occasional" []	EFO:0007586	"initiation of the use of cannabis, either regular or occasional" []	68831	\N	\N	EFO	0	EFO	Cannabis use initiation	Cannabis use initiation
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0007586	"initiation of the use of cannabis, either regular or occasional" []	194864	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	Cannabis use initiation
EFO:0007587	\N	\N	"An Oryza sativa culivar that is an updated assembly of \\"Os-Nipponbare-Reference-IRGSP-1.0\\" signifying that it is from rice (Oryza sativa), the Nipponbare cultivar, a high quality reference assembly, from the IRGSP, and version 1.0. We envision that future assemblies of rice will be of draft quality and from other entities, and as is the case with the Nipponbare rice genome, will be updated as new sequencing datasets become available in the future. We are proposing this nomenclature for other rice genome assemblies as an informative way for the community to readily interpret the origin, quality, and iteration of rice genome sequences. One objective in this study was to provide a single unified set of pseudomolecules for two parallel annotation efforts, the RAP (Tanaka et al. 2008, http://?rapdb.?dna.?affrc.?go.?jp/?) and the MSU Rice Genome Annotation Project (Ouyang et al. 2007, http://?rice.?plantbiology.?msu.?edu/?) in which both annotation projects have now updated their annotation with the underlying Os-Nipponbare-Reference-IRGSP-1.0 pseudomolecules and provided this via their project websites." []	EFO:0007587	"An Oryza sativa culivar that is an updated assembly of \\"Os-Nipponbare-Reference-IRGSP-1.0\\" signifying that it is from rice (Oryza sativa), the Nipponbare cultivar, a high quality reference assembly, from the IRGSP, and version 1.0. We envision that future assemblies of rice will be of draft quality and from other entities, and as is the case with the Nipponbare rice genome, will be updated as new sequencing datasets become available in the future. We are proposing this nomenclature for other rice genome assemblies as an informative way for the community to readily interpret the origin, quality, and iteration of rice genome sequences. One objective in this study was to provide a single unified set of pseudomolecules for two parallel annotation efforts, the RAP (Tanaka et al. 2008, http://?rapdb.?dna.?affrc.?go.?jp/?) and the MSU Rice Genome Annotation Project (Ouyang et al. 2007, http://?rice.?plantbiology.?msu.?edu/?) in which both annotation projects have now updated their annotation with the underlying Os-Nipponbare-Reference-IRGSP-1.0 pseudomolecules and provided this via their project websites." []	68832	\N	\N	EFO	0	EFO	Oryza sativa cv. Nipponbare	Oryza sativa cv. Nipponbare
NCBITaxon:39947	\N	\N	"" []	EFO:0007587	"An Oryza sativa culivar that is an updated assembly of \\"Os-Nipponbare-Reference-IRGSP-1.0\\" signifying that it is from rice (Oryza sativa), the Nipponbare cultivar, a high quality reference assembly, from the IRGSP, and version 1.0. We envision that future assemblies of rice will be of draft quality and from other entities, and as is the case with the Nipponbare rice genome, will be updated as new sequencing datasets become available in the future. We are proposing this nomenclature for other rice genome assemblies as an informative way for the community to readily interpret the origin, quality, and iteration of rice genome sequences. One objective in this study was to provide a single unified set of pseudomolecules for two parallel annotation efforts, the RAP (Tanaka et al. 2008, http://?rapdb.?dna.?affrc.?go.?jp/?) and the MSU Rice Genome Annotation Project (Ouyang et al. 2007, http://?rice.?plantbiology.?msu.?edu/?) in which both annotation projects have now updated their annotation with the underlying Os-Nipponbare-Reference-IRGSP-1.0 pseudomolecules and provided this via their project websites." []	194865	\N	\N	EFO	0	EFO	Oryza sativa Japonica Group	Oryza sativa cv. Nipponbare
EFO:0007588	\N	\N	"This Ensembl Plants pre-site contains the first release of the TGACv1 genome assembly of Triticum aestivum cv. Chinese Spring, generated by The Genome Analysis Centre, Norwich, as part of the BBSRC-funded project, Triticeae Genomics for Sustainable Agriculture. The assembly has an N50 of 88 Kb and a total length of 13.4 Gb in contigs greater than 500 bp.\\n\\nA total of 98,974 genes (99% of the total) annotated on the previously released assembly have been located on the new assembly. Alignments of RNA-seq data from 3 different studies across 18 samples have additionally been located on the new assembly. Data can be searched via gene identifier in the text search box, or via BLAST. Further annotation will be progressively available over the coming months.\\n\\nThe main Ensembl Plants site (http://plants.ensembl.org/Triticum_aestivum/Info/Index) continues to offer a more mature set of annotation on an assembly comprising the IWGSC Chromosome Survey Sequence data (IWGSC et al. 2015) supplemented by the chromosome 3B assembly (Choulet et al. 2015)." []	EFO:0007588	"This Ensembl Plants pre-site contains the first release of the TGACv1 genome assembly of Triticum aestivum cv. Chinese Spring, generated by The Genome Analysis Centre, Norwich, as part of the BBSRC-funded project, Triticeae Genomics for Sustainable Agriculture. The assembly has an N50 of 88 Kb and a total length of 13.4 Gb in contigs greater than 500 bp.\\n\\nA total of 98,974 genes (99% of the total) annotated on the previously released assembly have been located on the new assembly. Alignments of RNA-seq data from 3 different studies across 18 samples have additionally been located on the new assembly. Data can be searched via gene identifier in the text search box, or via BLAST. Further annotation will be progressively available over the coming months.\\n\\nThe main Ensembl Plants site (http://plants.ensembl.org/Triticum_aestivum/Info/Index) continues to offer a more mature set of annotation on an assembly comprising the IWGSC Chromosome Survey Sequence data (IWGSC et al. 2015) supplemented by the chromosome 3B assembly (Choulet et al. 2015)." []	68833	\N	\N	EFO	0	EFO	Triticum aestivum cv. Chinese Spring	Triticum aestivum cv. Chinese Spring
NCBITaxon:4565	\N	\N	"" []	EFO:0007588	"This Ensembl Plants pre-site contains the first release of the TGACv1 genome assembly of Triticum aestivum cv. Chinese Spring, generated by The Genome Analysis Centre, Norwich, as part of the BBSRC-funded project, Triticeae Genomics for Sustainable Agriculture. The assembly has an N50 of 88 Kb and a total length of 13.4 Gb in contigs greater than 500 bp.\\n\\nA total of 98,974 genes (99% of the total) annotated on the previously released assembly have been located on the new assembly. Alignments of RNA-seq data from 3 different studies across 18 samples have additionally been located on the new assembly. Data can be searched via gene identifier in the text search box, or via BLAST. Further annotation will be progressively available over the coming months.\\n\\nThe main Ensembl Plants site (http://plants.ensembl.org/Triticum_aestivum/Info/Index) continues to offer a more mature set of annotation on an assembly comprising the IWGSC Chromosome Survey Sequence data (IWGSC et al. 2015) supplemented by the chromosome 3B assembly (Choulet et al. 2015)." []	194866	\N	\N	EFO	0	EFO	Triticum aestivum	Triticum aestivum cv. Chinese Spring
EFO:0007589	\N	\N	"Etiolation: growth habit adopted by germinating seedlings in the dark. Involves rapid extension of shoot and/or hypocotyl and suppression of chlorophyll formation and leaf growth. [database_cross_reference: Online_Medical_Dictionary:http://cancerweb.ncl.ac.uk/]" []	EFO:0007589	"Etiolation: growth habit adopted by germinating seedlings in the dark. Involves rapid extension of shoot and/or hypocotyl and suppression of chlorophyll formation and leaf growth. [database_cross_reference: Online_Medical_Dictionary:http://cancerweb.ncl.ac.uk/]" []	68834	\N	\N	EFO	0	EFO	etiolation	etiolation
EFO:0000523	EFO:0007589	\N	"A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies." []	EFO:0007589	"Etiolation: growth habit adopted by germinating seedlings in the dark. Involves rapid extension of shoot and/or hypocotyl and suppression of chlorophyll formation and leaf growth. [database_cross_reference: Online_Medical_Dictionary:http://cancerweb.ncl.ac.uk/]" []	211000	\N	\N	EFO	1	EFO	growth condition	etiolation
CHEBI:24432	EFO:0000523	\N	"A role played by the molecular entity or part thereof within a biological context." []	EFO:0007589	"Etiolation: growth habit adopted by germinating seedlings in the dark. Involves rapid extension of shoot and/or hypocotyl and suppression of chlorophyll formation and leaf growth. [database_cross_reference: Online_Medical_Dictionary:http://cancerweb.ncl.ac.uk/]" []	564248	\N	\N	EFO	2	EFO	biological role	etiolation
BFO:0000023	CHEBI:24432	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	EFO:0007589	"Etiolation: growth habit adopted by germinating seedlings in the dark. Involves rapid extension of shoot and/or hypocotyl and suppression of chlorophyll formation and leaf growth. [database_cross_reference: Online_Medical_Dictionary:http://cancerweb.ncl.ac.uk/]" []	1145434	\N	\N	EFO	3	EFO	role	etiolation
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007589	"Etiolation: growth habit adopted by germinating seedlings in the dark. Involves rapid extension of shoot and/or hypocotyl and suppression of chlorophyll formation and leaf growth. [database_cross_reference: Online_Medical_Dictionary:http://cancerweb.ncl.ac.uk/]" []	2027963	\N	\N	EFO	4	EFO	material property	etiolation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007589	"Etiolation: growth habit adopted by germinating seedlings in the dark. Involves rapid extension of shoot and/or hypocotyl and suppression of chlorophyll formation and leaf growth. [database_cross_reference: Online_Medical_Dictionary:http://cancerweb.ncl.ac.uk/]" []	3179313	\N	\N	EFO	5	EFO	experimental factor	etiolation
EFO:0007590	\N	\N	" In the late 1980s, use of the inbred line Mo 17 originating from the USA, which carries gene Ht for resistance to NCLB, effectively controlled this disease" []	EFO:0007590	" In the late 1980s, use of the inbred line Mo 17 originating from the USA, which carries gene Ht for resistance to NCLB, effectively controlled this disease" []	68835	\N	\N	EFO	0	EFO	Zea mays Mo17 inbred line	Zea mays Mo17 inbred line
NCBITaxon:4577	\N	\N	"" []	EFO:0007590	" In the late 1980s, use of the inbred line Mo 17 originating from the USA, which carries gene Ht for resistance to NCLB, effectively controlled this disease" []	194867	\N	\N	EFO	0	EFO	Zea mays	Zea mays Mo17 inbred line
EFO:0007591	\N	\N	"quantification of the accruel of bone mineral density over time" []	EFO:0007591	"quantification of the accruel of bone mineral density over time" []	68836	\N	\N	EFO	0	EFO	bone mineral accretion measurement	bone mineral accretion measurement
EFO:0004512	EFO:0007591	\N	"" []	EFO:0007591	"quantification of the accruel of bone mineral density over time" []	211001	\N	\N	EFO	1	EFO	bone measurement	bone mineral accretion measurement
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007591	"quantification of the accruel of bone mineral density over time" []	564249	\N	\N	EFO	2	EFO	measurement	bone mineral accretion measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007591	"quantification of the accruel of bone mineral density over time" []	1145435	\N	\N	EFO	3	EFO	information entity	bone mineral accretion measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007591	"quantification of the accruel of bone mineral density over time" []	2027964	\N	\N	EFO	4	EFO	experimental factor	bone mineral accretion measurement
EFO:0007592	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bleomycin stimulus. Bleomycin acts by induction of DNA strand breaks" []	EFO:0007592	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bleomycin stimulus. Bleomycin acts by induction of DNA strand breaks" []	68837	\N	\N	EFO	0	EFO	response to bleomycin	response to bleomycin
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0007592	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bleomycin stimulus. Bleomycin acts by induction of DNA strand breaks" []	194868	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to bleomycin
EFO:0007593	\N	\N	"Quantification of the level of DNA strand breaks in a cell, for example induced by an antineoplastic agent such a bleomycin. Chromatid breaks can be assessed under the microscope in dividing cells during metaphase." []	EFO:0007593	"Quantification of the level of DNA strand breaks in a cell, for example induced by an antineoplastic agent such a bleomycin. Chromatid breaks can be assessed under the microscope in dividing cells during metaphase." []	68838	\N	\N	EFO	0	EFO	chromatid break measurement	chromatid break measurement
EFO:0004554	EFO:0007593	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0007593	"Quantification of the level of DNA strand breaks in a cell, for example induced by an antineoplastic agent such a bleomycin. Chromatid breaks can be assessed under the microscope in dividing cells during metaphase." []	211002	\N	\N	EFO	1	EFO	genomic measurement	chromatid break measurement
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007593	"Quantification of the level of DNA strand breaks in a cell, for example induced by an antineoplastic agent such a bleomycin. Chromatid breaks can be assessed under the microscope in dividing cells during metaphase." []	564250	\N	\N	EFO	2	EFO	measurement	chromatid break measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007593	"Quantification of the level of DNA strand breaks in a cell, for example induced by an antineoplastic agent such a bleomycin. Chromatid breaks can be assessed under the microscope in dividing cells during metaphase." []	1145436	\N	\N	EFO	3	EFO	information entity	chromatid break measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007593	"Quantification of the level of DNA strand breaks in a cell, for example induced by an antineoplastic agent such a bleomycin. Chromatid breaks can be assessed under the microscope in dividing cells during metaphase." []	2027965	\N	\N	EFO	4	EFO	experimental factor	chromatid break measurement
EFO:0007598	\N	\N	"HAP1 is a near-haploid human cell line that was derived from the male chronic myelogenous leukemia (CML) cell line KBM-7. HAP1 cells are adherent with fibroblast-like morphology." []	EFO:0007598	"HAP1 is a near-haploid human cell line that was derived from the male chronic myelogenous leukemia (CML) cell line KBM-7. HAP1 cells are adherent with fibroblast-like morphology." []	68839	\N	\N	EFO	0	EFO	HAP-1	HAP-1
EFO:0005294	EFO:0007598	\N	"" []	EFO:0007598	"HAP1 is a near-haploid human cell line that was derived from the male chronic myelogenous leukemia (CML) cell line KBM-7. HAP1 cells are adherent with fibroblast-like morphology." []	211003	\N	\N	EFO	1	EFO	chronic myelogenous leukemia cell line	HAP-1
EFO:0002937	EFO:0005294	\N	"" []	EFO:0007598	"HAP1 is a near-haploid human cell line that was derived from the male chronic myelogenous leukemia (CML) cell line KBM-7. HAP1 cells are adherent with fibroblast-like morphology." []	564251	\N	\N	EFO	2	EFO	lymphoma or leukaemia cell line	HAP-1
EFO:0001639	EFO:0002937	\N	"" []	EFO:0007598	"HAP1 is a near-haploid human cell line that was derived from the male chronic myelogenous leukemia (CML) cell line KBM-7. HAP1 cells are adherent with fibroblast-like morphology." []	1145437	\N	\N	EFO	3	EFO	cancer cell line	HAP-1
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007598	"HAP1 is a near-haploid human cell line that was derived from the male chronic myelogenous leukemia (CML) cell line KBM-7. HAP1 cells are adherent with fibroblast-like morphology." []	2027966	\N	\N	EFO	4	EFO	cell line	HAP-1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007598	"HAP1 is a near-haploid human cell line that was derived from the male chronic myelogenous leukemia (CML) cell line KBM-7. HAP1 cells are adherent with fibroblast-like morphology." []	3179314	\N	\N	EFO	5	EFO	material entity	HAP-1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007598	"HAP1 is a near-haploid human cell line that was derived from the male chronic myelogenous leukemia (CML) cell line KBM-7. HAP1 cells are adherent with fibroblast-like morphology." []	4388723	\N	\N	EFO	6	EFO	experimental factor	HAP-1
EFO:0007599	\N	\N	"L1-S8 is a partially reprogrammed cell line generated from human bone marrow mononuclear cells (BMMCs) after prestimulation with early cytokines (TPO, FL, SCF, IL-3) and transduced with Sendai viruses expressing the four factors OCT4, SOX2, KLF4 and cMYC. It originated from a single colony manually picked and clonal expanded." []	EFO:0007599	"L1-S8 is a partially reprogrammed cell line generated from human bone marrow mononuclear cells (BMMCs) after prestimulation with early cytokines (TPO, FL, SCF, IL-3) and transduced with Sendai viruses expressing the four factors OCT4, SOX2, KLF4 and cMYC. It originated from a single colony manually picked and clonal expanded." []	68840	\N	\N	EFO	0	EFO	L1-S8	L1-S8
EFO:0002888	EFO:0007599	\N	"" []	EFO:0007599	"L1-S8 is a partially reprogrammed cell line generated from human bone marrow mononuclear cells (BMMCs) after prestimulation with early cytokines (TPO, FL, SCF, IL-3) and transduced with Sendai viruses expressing the four factors OCT4, SOX2, KLF4 and cMYC. It originated from a single colony manually picked and clonal expanded." []	211004	\N	\N	EFO	1	EFO	Homo sapiens cell line	L1-S8
EFO:0005740	EFO:0007599	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007599	"L1-S8 is a partially reprogrammed cell line generated from human bone marrow mononuclear cells (BMMCs) after prestimulation with early cytokines (TPO, FL, SCF, IL-3) and transduced with Sendai viruses expressing the four factors OCT4, SOX2, KLF4 and cMYC. It originated from a single colony manually picked and clonal expanded." []	211005	\N	\N	EFO	1	EFO	iPSC derived cell line	L1-S8
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007599	"L1-S8 is a partially reprogrammed cell line generated from human bone marrow mononuclear cells (BMMCs) after prestimulation with early cytokines (TPO, FL, SCF, IL-3) and transduced with Sendai viruses expressing the four factors OCT4, SOX2, KLF4 and cMYC. It originated from a single colony manually picked and clonal expanded." []	564252	\N	\N	EFO	2	EFO	cell line	L1-S8
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007599	"L1-S8 is a partially reprogrammed cell line generated from human bone marrow mononuclear cells (BMMCs) after prestimulation with early cytokines (TPO, FL, SCF, IL-3) and transduced with Sendai viruses expressing the four factors OCT4, SOX2, KLF4 and cMYC. It originated from a single colony manually picked and clonal expanded." []	564253	\N	\N	EFO	2	EFO	stem cell derived cell line	L1-S8
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007599	"L1-S8 is a partially reprogrammed cell line generated from human bone marrow mononuclear cells (BMMCs) after prestimulation with early cytokines (TPO, FL, SCF, IL-3) and transduced with Sendai viruses expressing the four factors OCT4, SOX2, KLF4 and cMYC. It originated from a single colony manually picked and clonal expanded." []	2027968	\N	\N	EFO	4	EFO	material entity	L1-S8
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007599	"L1-S8 is a partially reprogrammed cell line generated from human bone marrow mononuclear cells (BMMCs) after prestimulation with early cytokines (TPO, FL, SCF, IL-3) and transduced with Sendai viruses expressing the four factors OCT4, SOX2, KLF4 and cMYC. It originated from a single colony manually picked and clonal expanded." []	1145439	\N	\N	EFO	3	EFO	cell line	L1-S8
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007599	"L1-S8 is a partially reprogrammed cell line generated from human bone marrow mononuclear cells (BMMCs) after prestimulation with early cytokines (TPO, FL, SCF, IL-3) and transduced with Sendai viruses expressing the four factors OCT4, SOX2, KLF4 and cMYC. It originated from a single colony manually picked and clonal expanded." []	2999900	\N	\N	EFO	5	EFO	experimental factor	L1-S8
EFO:0007600	\N	\N	"L1-S8R is a human iPSC line derived from L1-S8 after transduction with lentiviral vector pLM-fSV2A (Papapetrou et al NBT 2011) expressing OCT4, SOX2, KLF4 and cMYC." []	EFO:0007600	"L1-S8R is a human iPSC line derived from L1-S8 after transduction with lentiviral vector pLM-fSV2A (Papapetrou et al NBT 2011) expressing OCT4, SOX2, KLF4 and cMYC." []	68841	\N	\N	EFO	0	EFO	L1-S8R	L1-S8R
EFO:0002888	EFO:0007600	\N	"" []	EFO:0007600	"L1-S8R is a human iPSC line derived from L1-S8 after transduction with lentiviral vector pLM-fSV2A (Papapetrou et al NBT 2011) expressing OCT4, SOX2, KLF4 and cMYC." []	211006	\N	\N	EFO	1	EFO	Homo sapiens cell line	L1-S8R
EFO:0005740	EFO:0007600	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007600	"L1-S8R is a human iPSC line derived from L1-S8 after transduction with lentiviral vector pLM-fSV2A (Papapetrou et al NBT 2011) expressing OCT4, SOX2, KLF4 and cMYC." []	211007	\N	\N	EFO	1	EFO	iPSC derived cell line	L1-S8R
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007600	"L1-S8R is a human iPSC line derived from L1-S8 after transduction with lentiviral vector pLM-fSV2A (Papapetrou et al NBT 2011) expressing OCT4, SOX2, KLF4 and cMYC." []	564254	\N	\N	EFO	2	EFO	cell line	L1-S8R
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007600	"L1-S8R is a human iPSC line derived from L1-S8 after transduction with lentiviral vector pLM-fSV2A (Papapetrou et al NBT 2011) expressing OCT4, SOX2, KLF4 and cMYC." []	564255	\N	\N	EFO	2	EFO	stem cell derived cell line	L1-S8R
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007600	"L1-S8R is a human iPSC line derived from L1-S8 after transduction with lentiviral vector pLM-fSV2A (Papapetrou et al NBT 2011) expressing OCT4, SOX2, KLF4 and cMYC." []	2027970	\N	\N	EFO	4	EFO	material entity	L1-S8R
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007600	"L1-S8R is a human iPSC line derived from L1-S8 after transduction with lentiviral vector pLM-fSV2A (Papapetrou et al NBT 2011) expressing OCT4, SOX2, KLF4 and cMYC." []	1145441	\N	\N	EFO	3	EFO	cell line	L1-S8R
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007600	"L1-S8R is a human iPSC line derived from L1-S8 after transduction with lentiviral vector pLM-fSV2A (Papapetrou et al NBT 2011) expressing OCT4, SOX2, KLF4 and cMYC." []	2999901	\N	\N	EFO	5	EFO	experimental factor	L1-S8R
EFO:0007601	\N	\N	"MN1 is a cholinergic motor neuron cell line derived from a fusion of N18TG2 with embryonic mouse spinal cord motor neurons (clone 2F1.10.14.7)" []	EFO:0007601	"MN1 is a cholinergic motor neuron cell line derived from a fusion of N18TG2 with embryonic mouse spinal cord motor neurons (clone 2F1.10.14.7)" []	68842	\N	\N	EFO	0	EFO	MN1	MN1
EFO:0002887	EFO:0007601	\N	"Cell lines derived from mice." []	EFO:0007601	"MN1 is a cholinergic motor neuron cell line derived from a fusion of N18TG2 with embryonic mouse spinal cord motor neurons (clone 2F1.10.14.7)" []	211008	\N	\N	EFO	1	EFO	mouse cell line	MN1
EFO:0000322	EFO:0002887	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007601	"MN1 is a cholinergic motor neuron cell line derived from a fusion of N18TG2 with embryonic mouse spinal cord motor neurons (clone 2F1.10.14.7)" []	564256	\N	\N	EFO	2	EFO	cell line	MN1
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007601	"MN1 is a cholinergic motor neuron cell line derived from a fusion of N18TG2 with embryonic mouse spinal cord motor neurons (clone 2F1.10.14.7)" []	1145442	\N	\N	EFO	3	EFO	material entity	MN1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007601	"MN1 is a cholinergic motor neuron cell line derived from a fusion of N18TG2 with embryonic mouse spinal cord motor neurons (clone 2F1.10.14.7)" []	2027971	\N	\N	EFO	4	EFO	experimental factor	MN1
EFO:0007602	\N	\N	"quantification of the total volume of a brain's four ventricles, usuallly through an MRI scan" []	EFO:0007602	"quantification of the total volume of a brain's four ventricles, usuallly through an MRI scan" []	68843	\N	\N	EFO	0	EFO	total ventricular volume measurement	total ventricular volume measurement
EFO:0001444	EFO:0007602	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007602	"quantification of the total volume of a brain's four ventricles, usuallly through an MRI scan" []	211009	\N	\N	EFO	1	EFO	measurement	total ventricular volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007602	"quantification of the total volume of a brain's four ventricles, usuallly through an MRI scan" []	564257	\N	\N	EFO	2	EFO	information entity	total ventricular volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007602	"quantification of the total volume of a brain's four ventricles, usuallly through an MRI scan" []	1145443	\N	\N	EFO	3	EFO	experimental factor	total ventricular volume measurement
EFO:0007605	\N	\N	"Arabidopsis thaliana ecotype of geographical location Blackmount, UK" []	EFO:0007605	"Arabidopsis thaliana ecotype of geographical location Blackmount, UK" []	68844	\N	\N	EFO	0	EFO	Blackmount ecotype	Blackmount ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0007605	"Arabidopsis thaliana ecotype of geographical location Blackmount, UK" []	194869	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Blackmount ecotype
EFO:0007606	\N	\N	"Common Name thale cress, thale-cress, mouse-ear cress\\nClass \	ecotype\\nType \	Brassicaceae\\nDescription \	Blackmount, UK" []	EFO:0007606	"Common Name thale cress, thale-cress, mouse-ear cress\\nClass \	ecotype\\nType \	Brassicaceae\\nDescription \	Blackmount, UK" []	68845	\N	\N	EFO	0	EFO	Ba-1	Ba-1
EFO:0007605	EFO:0007606	\N	"Arabidopsis thaliana ecotype of geographical location Blackmount, UK" []	EFO:0007606	"Common Name thale cress, thale-cress, mouse-ear cress\\nClass \	ecotype\\nType \	Brassicaceae\\nDescription \	Blackmount, UK" []	211010	\N	\N	EFO	1	EFO	Blackmount ecotype	Ba-1
EFO:0007607	\N	\N	"Arabidopsis thaliana of geographical location Lipowiec/Chrzanow Poland" []	EFO:0007607	"Arabidopsis thaliana of geographical location Lipowiec/Chrzanow Poland" []	68846	\N	\N	EFO	0	EFO	Lipowiec ecotype	Lipowiec ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0007607	"Arabidopsis thaliana of geographical location Lipowiec/Chrzanow Poland" []	194870	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Lipowiec ecotype
EFO:0007608	\N	\N	"Country \	   \	Sweden\\nLocation \	   \	Staff 11\\nLatitude (min/max) \	   \	55.6561 / 55.6561 " []	EFO:0007608	"Country \	   \	Sweden\\nLocation \	   \	Staff 11\\nLatitude (min/max) \	   \	55.6561 / 55.6561 " []	68847	\N	\N	EFO	0	EFO	T1080	T1080
NCBITaxon:3702	\N	\N	"" []	EFO:0007608	"Country \	   \	Sweden\\nLocation \	   \	Staff 11\\nLatitude (min/max) \	   \	55.6561 / 55.6561 " []	194871	\N	\N	EFO	0	EFO	Arabidopsis thaliana	T1080
EFO:0007609	\N	\N	"Arabidopsis thaliana of geographical location Pedriza Spain" []	EFO:0007609	"Arabidopsis thaliana of geographical location Pedriza Spain" []	68848	\N	\N	EFO	0	EFO	Pedriza ecotype	Pedriza ecotype
NCBITaxon:3702	\N	\N	"" []	EFO:0007609	"Arabidopsis thaliana of geographical location Pedriza Spain" []	194872	\N	\N	EFO	0	EFO	Arabidopsis thaliana	Pedriza ecotype
EFO:0007610	\N	\N	"RWPE-2 cells were derived from RWPE-1 cells (ATCC CRL-11609) by transformation with Ki-ras using the Kirsten murine sarcoma virus (Ki-MuSV)." []	EFO:0007610	"RWPE-2 cells were derived from RWPE-1 cells (ATCC CRL-11609) by transformation with Ki-ras using the Kirsten murine sarcoma virus (Ki-MuSV)." []	68849	\N	\N	EFO	0	EFO	RWPE2	RWPE2
EFO:0001641	EFO:0007610	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0007610	"RWPE-2 cells were derived from RWPE-1 cells (ATCC CRL-11609) by transformation with Ki-ras using the Kirsten murine sarcoma virus (Ki-MuSV)." []	211011	\N	\N	EFO	1	EFO	epithelial cell derived cell line	RWPE2
EFO:0002888	EFO:0007610	\N	"" []	EFO:0007610	"RWPE-2 cells were derived from RWPE-1 cells (ATCC CRL-11609) by transformation with Ki-ras using the Kirsten murine sarcoma virus (Ki-MuSV)." []	211012	\N	\N	EFO	1	EFO	Homo sapiens cell line	RWPE2
EFO:0002891	EFO:0007610	\N	"Any cell line that is derived from the prostate." []	EFO:0007610	"RWPE-2 cells were derived from RWPE-1 cells (ATCC CRL-11609) by transformation with Ki-ras using the Kirsten murine sarcoma virus (Ki-MuSV)." []	211013	\N	\N	EFO	1	EFO	prostate derived cell line	RWPE2
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007610	"RWPE-2 cells were derived from RWPE-1 cells (ATCC CRL-11609) by transformation with Ki-ras using the Kirsten murine sarcoma virus (Ki-MuSV)." []	564258	\N	\N	EFO	2	EFO	cell line	RWPE2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007610	"RWPE-2 cells were derived from RWPE-1 cells (ATCC CRL-11609) by transformation with Ki-ras using the Kirsten murine sarcoma virus (Ki-MuSV)." []	564259	\N	\N	EFO	2	EFO	cell line	RWPE2
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007610	"RWPE-2 cells were derived from RWPE-1 cells (ATCC CRL-11609) by transformation with Ki-ras using the Kirsten murine sarcoma virus (Ki-MuSV)." []	564260	\N	\N	EFO	2	EFO	cell line	RWPE2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007610	"RWPE-2 cells were derived from RWPE-1 cells (ATCC CRL-11609) by transformation with Ki-ras using the Kirsten murine sarcoma virus (Ki-MuSV)." []	1145444	\N	\N	EFO	3	EFO	material entity	RWPE2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007610	"RWPE-2 cells were derived from RWPE-1 cells (ATCC CRL-11609) by transformation with Ki-ras using the Kirsten murine sarcoma virus (Ki-MuSV)." []	2027972	\N	\N	EFO	4	EFO	experimental factor	RWPE2
EFO:0007611	\N	\N	"Human anaplastic large cell lymphoma cell line, established from the pleural effusion of a 73-year-old female. Most of these cells were hyperdiploid, with a sharp modal number of 51 chromosomes; occasional cells in the hypertetraploid range were also seen. A minute marker chromosome was consistently observed, and increased numbers of chromosomes were seen in the A, B, C, and F groups" []	EFO:0007611	"Human anaplastic large cell lymphoma cell line, established from the pleural effusion of a 73-year-old female. Most of these cells were hyperdiploid, with a sharp modal number of 51 chromosomes; occasional cells in the hypertetraploid range were also seen. A minute marker chromosome was consistently observed, and increased numbers of chromosomes were seen in the A, B, C, and F groups" []	68850	\N	\N	EFO	0	EFO	SU-DHL-2	SU-DHL-2
EFO:0001640	EFO:0007611	\N	"" []	EFO:0007611	"Human anaplastic large cell lymphoma cell line, established from the pleural effusion of a 73-year-old female. Most of these cells were hyperdiploid, with a sharp modal number of 51 chromosomes; occasional cells in the hypertetraploid range were also seen. A minute marker chromosome was consistently observed, and increased numbers of chromosomes were seen in the A, B, C, and F groups" []	211014	\N	\N	EFO	1	EFO	B cell derived cell line	SU-DHL-2
EFO:0002888	EFO:0007611	\N	"" []	EFO:0007611	"Human anaplastic large cell lymphoma cell line, established from the pleural effusion of a 73-year-old female. Most of these cells were hyperdiploid, with a sharp modal number of 51 chromosomes; occasional cells in the hypertetraploid range were also seen. A minute marker chromosome was consistently observed, and increased numbers of chromosomes were seen in the A, B, C, and F groups" []	211015	\N	\N	EFO	1	EFO	Homo sapiens cell line	SU-DHL-2
EFO:0002937	EFO:0007611	\N	"" []	EFO:0007611	"Human anaplastic large cell lymphoma cell line, established from the pleural effusion of a 73-year-old female. Most of these cells were hyperdiploid, with a sharp modal number of 51 chromosomes; occasional cells in the hypertetraploid range were also seen. A minute marker chromosome was consistently observed, and increased numbers of chromosomes were seen in the A, B, C, and F groups" []	211016	\N	\N	EFO	1	EFO	lymphoma or leukaemia cell line	SU-DHL-2
EFO:0000322	EFO:0001640	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007611	"Human anaplastic large cell lymphoma cell line, established from the pleural effusion of a 73-year-old female. Most of these cells were hyperdiploid, with a sharp modal number of 51 chromosomes; occasional cells in the hypertetraploid range were also seen. A minute marker chromosome was consistently observed, and increased numbers of chromosomes were seen in the A, B, C, and F groups" []	564261	\N	\N	EFO	2	EFO	cell line	SU-DHL-2
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007611	"Human anaplastic large cell lymphoma cell line, established from the pleural effusion of a 73-year-old female. Most of these cells were hyperdiploid, with a sharp modal number of 51 chromosomes; occasional cells in the hypertetraploid range were also seen. A minute marker chromosome was consistently observed, and increased numbers of chromosomes were seen in the A, B, C, and F groups" []	564262	\N	\N	EFO	2	EFO	cell line	SU-DHL-2
EFO:0001639	EFO:0002937	\N	"" []	EFO:0007611	"Human anaplastic large cell lymphoma cell line, established from the pleural effusion of a 73-year-old female. Most of these cells were hyperdiploid, with a sharp modal number of 51 chromosomes; occasional cells in the hypertetraploid range were also seen. A minute marker chromosome was consistently observed, and increased numbers of chromosomes were seen in the A, B, C, and F groups" []	564263	\N	\N	EFO	2	EFO	cancer cell line	SU-DHL-2
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007611	"Human anaplastic large cell lymphoma cell line, established from the pleural effusion of a 73-year-old female. Most of these cells were hyperdiploid, with a sharp modal number of 51 chromosomes; occasional cells in the hypertetraploid range were also seen. A minute marker chromosome was consistently observed, and increased numbers of chromosomes were seen in the A, B, C, and F groups" []	2027974	\N	\N	EFO	4	EFO	material entity	SU-DHL-2
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007611	"Human anaplastic large cell lymphoma cell line, established from the pleural effusion of a 73-year-old female. Most of these cells were hyperdiploid, with a sharp modal number of 51 chromosomes; occasional cells in the hypertetraploid range were also seen. A minute marker chromosome was consistently observed, and increased numbers of chromosomes were seen in the A, B, C, and F groups" []	1145446	\N	\N	EFO	3	EFO	cell line	SU-DHL-2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007611	"Human anaplastic large cell lymphoma cell line, established from the pleural effusion of a 73-year-old female. Most of these cells were hyperdiploid, with a sharp modal number of 51 chromosomes; occasional cells in the hypertetraploid range were also seen. A minute marker chromosome was consistently observed, and increased numbers of chromosomes were seen in the A, B, C, and F groups" []	2999902	\N	\N	EFO	5	EFO	experimental factor	SU-DHL-2
EFO:0007612	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with montelukast, a leukotriene receptor antagonist used for the maintenance treatment of asthma and to relieve symptoms of seasonal allergies" []	EFO:0007612	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with montelukast, a leukotriene receptor antagonist used for the maintenance treatment of asthma and to relieve symptoms of seasonal allergies" []	68851	\N	\N	EFO	0	EFO	response to montelukast	response to montelukast
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007612	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with montelukast, a leukotriene receptor antagonist used for the maintenance treatment of asthma and to relieve symptoms of seasonal allergies" []	194873	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to montelukast
EFO:0007613	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of endocrine therapy. Endocrine therapy, also called hormone therapy, adds, blocks or removes the body's natural hormones to treat a disease, most commonly breast cancer" []	EFO:0007613	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of endocrine therapy. Endocrine therapy, also called hormone therapy, adds, blocks or removes the body's natural hormones to treat a disease, most commonly breast cancer" []	68852	\N	\N	EFO	0	EFO	response to endocrine therapy	response to endocrine therapy
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007613	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of endocrine therapy. Endocrine therapy, also called hormone therapy, adds, blocks or removes the body's natural hormones to treat a disease, most commonly breast cancer" []	194874	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to endocrine therapy
EFO:0007614	\N	\N	"quantification of acute asthma exacerbations in an individual, generally defined by short courses of treatment with medication such as oral steroids." []	EFO:0007614	"quantification of acute asthma exacerbations in an individual, generally defined by short courses of treatment with medication such as oral steroids." []	68853	\N	\N	EFO	0	EFO	asthma exacerbation measurement	asthma exacerbation measurement
EFO:0001444	EFO:0007614	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007614	"quantification of acute asthma exacerbations in an individual, generally defined by short courses of treatment with medication such as oral steroids." []	211017	\N	\N	EFO	1	EFO	measurement	asthma exacerbation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007614	"quantification of acute asthma exacerbations in an individual, generally defined by short courses of treatment with medication such as oral steroids." []	564264	\N	\N	EFO	2	EFO	information entity	asthma exacerbation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007614	"quantification of acute asthma exacerbations in an individual, generally defined by short courses of treatment with medication such as oral steroids." []	1145447	\N	\N	EFO	3	EFO	experimental factor	asthma exacerbation measurement
EFO:0007615	\N	\N	"quantification of some aspect of thrombus formation, ie the formation of a blood clot inside a blood vessel through the aggregation of platelets and fibrin" []	EFO:0007615	"quantification of some aspect of thrombus formation, ie the formation of a blood clot inside a blood vessel through the aggregation of platelets and fibrin" []	68854	\N	\N	EFO	0	EFO	thrombus formation measurement	thrombus formation measurement
EFO:0005036	EFO:0007615	\N	"A measurement quantifying some platelet" []	EFO:0007615	"quantification of some aspect of thrombus formation, ie the formation of a blood clot inside a blood vessel through the aggregation of platelets and fibrin" []	211018	\N	\N	EFO	1	EFO	platelet measurement	thrombus formation measurement
EFO:0004503	EFO:0005036	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007615	"quantification of some aspect of thrombus formation, ie the formation of a blood clot inside a blood vessel through the aggregation of platelets and fibrin" []	564265	\N	\N	EFO	2	EFO	hematological measurement	thrombus formation measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007615	"quantification of some aspect of thrombus formation, ie the formation of a blood clot inside a blood vessel through the aggregation of platelets and fibrin" []	1145448	\N	\N	EFO	3	EFO	measurement	thrombus formation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007615	"quantification of some aspect of thrombus formation, ie the formation of a blood clot inside a blood vessel through the aggregation of platelets and fibrin" []	2027975	\N	\N	EFO	4	EFO	information entity	thrombus formation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007615	"quantification of some aspect of thrombus formation, ie the formation of a blood clot inside a blood vessel through the aggregation of platelets and fibrin" []	3179315	\N	\N	EFO	5	EFO	experimental factor	thrombus formation measurement
EFO:0007616	\N	\N	"quantification of some aspect of hearing" []	EFO:0007616	"quantification of some aspect of hearing" []	68855	\N	\N	EFO	0	EFO	hearing measurement	hearing measurement
EFO:0001444	EFO:0007616	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007616	"quantification of some aspect of hearing" []	211019	\N	\N	EFO	1	EFO	measurement	hearing measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007616	"quantification of some aspect of hearing" []	564266	\N	\N	EFO	2	EFO	information entity	hearing measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007616	"quantification of some aspect of hearing" []	1145449	\N	\N	EFO	3	EFO	experimental factor	hearing measurement
EFO:0007617	\N	\N	"quantification of an individual's hearing thresholds through exposure to pure tone stimuli" []	EFO:0007617	"quantification of an individual's hearing thresholds through exposure to pure tone stimuli" []	68856	\N	\N	EFO	0	EFO	pure tone hearing measurement	pure tone hearing measurement
EFO:0007616	EFO:0007617	\N	"quantification of some aspect of hearing" []	EFO:0007617	"quantification of an individual's hearing thresholds through exposure to pure tone stimuli" []	211020	\N	\N	EFO	1	EFO	hearing measurement	pure tone hearing measurement
EFO:0001444	EFO:0007616	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007617	"quantification of an individual's hearing thresholds through exposure to pure tone stimuli" []	564267	\N	\N	EFO	2	EFO	measurement	pure tone hearing measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007617	"quantification of an individual's hearing thresholds through exposure to pure tone stimuli" []	1145450	\N	\N	EFO	3	EFO	information entity	pure tone hearing measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007617	"quantification of an individual's hearing thresholds through exposure to pure tone stimuli" []	2027976	\N	\N	EFO	4	EFO	experimental factor	pure tone hearing measurement
EFO:0007618	\N	\N	"quantification of the highest and/or lowest frequency of sound perceived by an individual" []	EFO:0007618	"quantification of the highest and/or lowest frequency of sound perceived by an individual" []	68857	\N	\N	EFO	0	EFO	hearing threshold measurement	hearing threshold measurement
EFO:0007616	EFO:0007618	\N	"quantification of some aspect of hearing" []	EFO:0007618	"quantification of the highest and/or lowest frequency of sound perceived by an individual" []	211021	\N	\N	EFO	1	EFO	hearing measurement	hearing threshold measurement
EFO:0001444	EFO:0007616	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007618	"quantification of the highest and/or lowest frequency of sound perceived by an individual" []	564268	\N	\N	EFO	2	EFO	measurement	hearing threshold measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007618	"quantification of the highest and/or lowest frequency of sound perceived by an individual" []	1145451	\N	\N	EFO	3	EFO	information entity	hearing threshold measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007618	"quantification of the highest and/or lowest frequency of sound perceived by an individual" []	2027977	\N	\N	EFO	4	EFO	experimental factor	hearing threshold measurement
EFO:0007619	\N	\N	"quantification of suicide ideation " []	EFO:0007619	"quantification of suicide ideation " []	68858	\N	\N	EFO	0	EFO	suicide ideation measurement	suicide ideation measurement
EFO:0006882	EFO:0007619	\N	"quantification of some aspect of suicide behaviour, eg suicide behaviour severity, assessed via a self-reported questionnaire or semi-structured interview" []	EFO:0007619	"quantification of suicide ideation " []	211022	\N	\N	EFO	1	EFO	suicide behaviour measurement	suicide ideation measurement
EFO:0006848	EFO:0006882	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007619	"quantification of suicide ideation " []	564269	\N	\N	EFO	2	EFO	mental or behavioural disorder biomarker	suicide ideation measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007619	"quantification of suicide ideation " []	1145452	\N	\N	EFO	3	EFO	measurement	suicide ideation measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007619	"quantification of suicide ideation " []	2027978	\N	\N	EFO	4	EFO	information entity	suicide ideation measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007619	"quantification of suicide ideation " []	3179316	\N	\N	EFO	5	EFO	experimental factor	suicide ideation measurement
EFO:0007620	\N	\N	"quantification of the mineral mass per unit volume of bone, generally expressed in grams per cubic centimeter or per ml. This is not to be confused with bone mineral density as calculated per unit area of bone (grams per square centimeter), which is the definition most commonly used in clinical practice." []	EFO:0007620	"quantification of the mineral mass per unit volume of bone, generally expressed in grams per cubic centimeter or per ml. This is not to be confused with bone mineral density as calculated per unit area of bone (grams per square centimeter), which is the definition most commonly used in clinical practice." []	68859	\N	\N	EFO	0	EFO	volumetric bone mineral density	volumetric bone mineral density
EFO:0004516	EFO:0007620	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0007620	"quantification of the mineral mass per unit volume of bone, generally expressed in grams per cubic centimeter or per ml. This is not to be confused with bone mineral density as calculated per unit area of bone (grams per square centimeter), which is the definition most commonly used in clinical practice." []	211023	\N	\N	EFO	1	EFO	bone fracture related measurement	volumetric bone mineral density
EFO:0004512	EFO:0004516	\N	"" []	EFO:0007620	"quantification of the mineral mass per unit volume of bone, generally expressed in grams per cubic centimeter or per ml. This is not to be confused with bone mineral density as calculated per unit area of bone (grams per square centimeter), which is the definition most commonly used in clinical practice." []	564270	\N	\N	EFO	2	EFO	bone measurement	volumetric bone mineral density
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007620	"quantification of the mineral mass per unit volume of bone, generally expressed in grams per cubic centimeter or per ml. This is not to be confused with bone mineral density as calculated per unit area of bone (grams per square centimeter), which is the definition most commonly used in clinical practice." []	1145453	\N	\N	EFO	3	EFO	measurement	volumetric bone mineral density
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007620	"quantification of the mineral mass per unit volume of bone, generally expressed in grams per cubic centimeter or per ml. This is not to be confused with bone mineral density as calculated per unit area of bone (grams per square centimeter), which is the definition most commonly used in clinical practice." []	2027979	\N	\N	EFO	4	EFO	information entity	volumetric bone mineral density
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007620	"quantification of the mineral mass per unit volume of bone, generally expressed in grams per cubic centimeter or per ml. This is not to be confused with bone mineral density as calculated per unit area of bone (grams per square centimeter), which is the definition most commonly used in clinical practice." []	3179317	\N	\N	EFO	5	EFO	experimental factor	volumetric bone mineral density
EFO:0007621	\N	\N	"quantification of the form or content of one or more of the mineral components of bone" []	EFO:0007621	"quantification of the form or content of one or more of the mineral components of bone" []	68860	\N	\N	EFO	0	EFO	bone mineral content measurement	bone mineral content measurement
EFO:0004516	EFO:0007621	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0007621	"quantification of the form or content of one or more of the mineral components of bone" []	211024	\N	\N	EFO	1	EFO	bone fracture related measurement	bone mineral content measurement
EFO:0004512	EFO:0004516	\N	"" []	EFO:0007621	"quantification of the form or content of one or more of the mineral components of bone" []	564271	\N	\N	EFO	2	EFO	bone measurement	bone mineral content measurement
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007621	"quantification of the form or content of one or more of the mineral components of bone" []	1145454	\N	\N	EFO	3	EFO	measurement	bone mineral content measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007621	"quantification of the form or content of one or more of the mineral components of bone" []	2027980	\N	\N	EFO	4	EFO	information entity	bone mineral content measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007621	"quantification of the form or content of one or more of the mineral components of bone" []	3179318	\N	\N	EFO	5	EFO	experimental factor	bone mineral content measurement
EFO:0007622	\N	\N	"quantification in a plasma sample of the levels of soluble Receptor for Advanced Glycation End-products (sRAGE). sRAGE is a strong markers of vascular outcomes" []	EFO:0007622	"quantification in a plasma sample of the levels of soluble Receptor for Advanced Glycation End-products (sRAGE). sRAGE is a strong markers of vascular outcomes" []	68861	\N	\N	EFO	0	EFO	sRAGE measurement	sRAGE measurement
EFO:0001444	EFO:0007622	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007622	"quantification in a plasma sample of the levels of soluble Receptor for Advanced Glycation End-products (sRAGE). sRAGE is a strong markers of vascular outcomes" []	211025	\N	\N	EFO	1	EFO	measurement	sRAGE measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007622	"quantification in a plasma sample of the levels of soluble Receptor for Advanced Glycation End-products (sRAGE). sRAGE is a strong markers of vascular outcomes" []	564272	\N	\N	EFO	2	EFO	information entity	sRAGE measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007622	"quantification in a plasma sample of the levels of soluble Receptor for Advanced Glycation End-products (sRAGE). sRAGE is a strong markers of vascular outcomes" []	1145455	\N	\N	EFO	3	EFO	experimental factor	sRAGE measurement
EFO:0007623	\N	\N	"Any behaviour related to suicide, including suicide ideation and self-harm" []	EFO:0007623	"Any behaviour related to suicide, including suicide ideation and self-harm" []	68862	\N	\N	EFO	0	EFO	suicide behaviour	suicide behaviour
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0007623	"Any behaviour related to suicide, including suicide ideation and self-harm" []	194875	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	suicide behaviour
EFO:0007624	\N	\N	"the process of deliberately and successfully terminating one's life" []	EFO:0007624	"the process of deliberately and successfully terminating one's life" []	68863	\N	\N	EFO	0	EFO	suicide	suicide
EFO:0007623	EFO:0007624	\N	"Any behaviour related to suicide, including suicide ideation and self-harm" []	EFO:0007624	"the process of deliberately and successfully terminating one's life" []	211026	\N	\N	EFO	1	EFO	suicide behaviour	suicide
EFO:0007625	\N	\N	"Clinical sign or symptom manifested as debility, or lack or loss of strength and energy." []	EFO:0007625	"Clinical sign or symptom manifested as debility, or lack or loss of strength and energy." []	68864	\N	\N	EFO	0	EFO	asthenia	asthenia
EFO:0003765	EFO:0007625	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0007625	"Clinical sign or symptom manifested as debility, or lack or loss of strength and energy." []	211027	\N	\N	EFO	1	EFO	sign or symptom	asthenia
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007625	"Clinical sign or symptom manifested as debility, or lack or loss of strength and energy." []	564273	\N	\N	EFO	2	EFO	phenotype	asthenia
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007625	"Clinical sign or symptom manifested as debility, or lack or loss of strength and energy." []	1145456	\N	\N	EFO	3	EFO	quality	asthenia
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007625	"Clinical sign or symptom manifested as debility, or lack or loss of strength and energy." []	2027981	\N	\N	EFO	4	EFO	material property	asthenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007625	"Clinical sign or symptom manifested as debility, or lack or loss of strength and energy." []	3179319	\N	\N	EFO	5	EFO	experimental factor	asthenia
EFO:0007626	\N	\N	"Quantification of some aspect, eg the presence/absence or severity of emphysema through the use of imaging techniques such as CT scans" []	EFO:0007626	"Quantification of some aspect, eg the presence/absence or severity of emphysema through the use of imaging techniques such as CT scans" []	68865	\N	\N	EFO	0	EFO	emphysema imaging measurement	emphysema imaging measurement
EFO:0007627	EFO:0007626	\N	"Quantification of the size of or level of damage to a person's airways using medical imaging techniques such as CT scans. This approach is used in the diagnosis and assessment of respiratory disorders such as COPD and emphysema" []	EFO:0007626	"Quantification of some aspect, eg the presence/absence or severity of emphysema through the use of imaging techniques such as CT scans" []	211028	\N	\N	EFO	1	EFO	airway imaging measurement	emphysema imaging measurement
EFO:0006841	EFO:0007627	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0007626	"Quantification of some aspect, eg the presence/absence or severity of emphysema through the use of imaging techniques such as CT scans" []	564274	\N	\N	EFO	2	EFO	respiratory disease biomarker	emphysema imaging measurement
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007626	"Quantification of some aspect, eg the presence/absence or severity of emphysema through the use of imaging techniques such as CT scans" []	1145457	\N	\N	EFO	3	EFO	measurement	emphysema imaging measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007626	"Quantification of some aspect, eg the presence/absence or severity of emphysema through the use of imaging techniques such as CT scans" []	2027982	\N	\N	EFO	4	EFO	information entity	emphysema imaging measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007626	"Quantification of some aspect, eg the presence/absence or severity of emphysema through the use of imaging techniques such as CT scans" []	3179320	\N	\N	EFO	5	EFO	experimental factor	emphysema imaging measurement
EFO:0007627	\N	\N	"Quantification of the size of or level of damage to a person's airways using medical imaging techniques such as CT scans. This approach is used in the diagnosis and assessment of respiratory disorders such as COPD and emphysema" []	EFO:0007627	"Quantification of the size of or level of damage to a person's airways using medical imaging techniques such as CT scans. This approach is used in the diagnosis and assessment of respiratory disorders such as COPD and emphysema" []	68866	\N	\N	EFO	0	EFO	airway imaging measurement	airway imaging measurement
EFO:0006841	EFO:0007627	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0007627	"Quantification of the size of or level of damage to a person's airways using medical imaging techniques such as CT scans. This approach is used in the diagnosis and assessment of respiratory disorders such as COPD and emphysema" []	211029	\N	\N	EFO	1	EFO	respiratory disease biomarker	airway imaging measurement
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007627	"Quantification of the size of or level of damage to a person's airways using medical imaging techniques such as CT scans. This approach is used in the diagnosis and assessment of respiratory disorders such as COPD and emphysema" []	564275	\N	\N	EFO	2	EFO	measurement	airway imaging measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007627	"Quantification of the size of or level of damage to a person's airways using medical imaging techniques such as CT scans. This approach is used in the diagnosis and assessment of respiratory disorders such as COPD and emphysema" []	1145458	\N	\N	EFO	3	EFO	information entity	airway imaging measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007627	"Quantification of the size of or level of damage to a person's airways using medical imaging techniques such as CT scans. This approach is used in the diagnosis and assessment of respiratory disorders such as COPD and emphysema" []	2027983	\N	\N	EFO	4	EFO	experimental factor	airway imaging measurement
EFO:0007628	\N	\N	"Quantification of the amount of air that is abnormally retained in the lungs at the end of an exhalation. " []	EFO:0007628	"Quantification of the amount of air that is abnormally retained in the lungs at the end of an exhalation. " []	68867	\N	\N	EFO	0	EFO	gas trapping measurement	gas trapping measurement
EFO:0006841	EFO:0007628	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0007628	"Quantification of the amount of air that is abnormally retained in the lungs at the end of an exhalation. " []	211030	\N	\N	EFO	1	EFO	respiratory disease biomarker	gas trapping measurement
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007628	"Quantification of the amount of air that is abnormally retained in the lungs at the end of an exhalation. " []	564276	\N	\N	EFO	2	EFO	measurement	gas trapping measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007628	"Quantification of the amount of air that is abnormally retained in the lungs at the end of an exhalation. " []	1145459	\N	\N	EFO	3	EFO	information entity	gas trapping measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007628	"Quantification of the amount of air that is abnormally retained in the lungs at the end of an exhalation. " []	2027984	\N	\N	EFO	4	EFO	experimental factor	gas trapping measurement
EFO:0007629	\N	\N	"Hemoglobin A1 measurement is a measure of the quanity of the metallo protein hemoglobin A. Hemoglobin A (HbA), also known as adult hemoglobin or a2b2, is the most common human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin. It consists of two alpha chains and two beta chains." []	EFO:0007629	"Hemoglobin A1 measurement is a measure of the quanity of the metallo protein hemoglobin A. Hemoglobin A (HbA), also known as adult hemoglobin or a2b2, is the most common human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin. It consists of two alpha chains and two beta chains." []	68868	\N	\N	EFO	0	EFO	hemoglobin A1 measurement	hemoglobin A1 measurement
EFO:0004509	EFO:0007629	\N	"Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia." []	EFO:0007629	"Hemoglobin A1 measurement is a measure of the quanity of the metallo protein hemoglobin A. Hemoglobin A (HbA), also known as adult hemoglobin or a2b2, is the most common human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin. It consists of two alpha chains and two beta chains." []	211031	\N	\N	EFO	1	EFO	hemoglobin measurement	hemoglobin A1 measurement
EFO:0004503	EFO:0004509	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007629	"Hemoglobin A1 measurement is a measure of the quanity of the metallo protein hemoglobin A. Hemoglobin A (HbA), also known as adult hemoglobin or a2b2, is the most common human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin. It consists of two alpha chains and two beta chains." []	564277	\N	\N	EFO	2	EFO	hematological measurement	hemoglobin A1 measurement
EFO:0004747	EFO:0004509	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007629	"Hemoglobin A1 measurement is a measure of the quanity of the metallo protein hemoglobin A. Hemoglobin A (HbA), also known as adult hemoglobin or a2b2, is the most common human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin. It consists of two alpha chains and two beta chains." []	564278	\N	\N	EFO	2	EFO	protein measurement	hemoglobin A1 measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007629	"Hemoglobin A1 measurement is a measure of the quanity of the metallo protein hemoglobin A. Hemoglobin A (HbA), also known as adult hemoglobin or a2b2, is the most common human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin. It consists of two alpha chains and two beta chains." []	1145460	\N	\N	EFO	3	EFO	measurement	hemoglobin A1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007629	"Hemoglobin A1 measurement is a measure of the quanity of the metallo protein hemoglobin A. Hemoglobin A (HbA), also known as adult hemoglobin or a2b2, is the most common human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin. It consists of two alpha chains and two beta chains." []	1145461	\N	\N	EFO	3	EFO	measurement	hemoglobin A1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007629	"Hemoglobin A1 measurement is a measure of the quanity of the metallo protein hemoglobin A. Hemoglobin A (HbA), also known as adult hemoglobin or a2b2, is the most common human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin. It consists of two alpha chains and two beta chains." []	2027985	\N	\N	EFO	4	EFO	information entity	hemoglobin A1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007629	"Hemoglobin A1 measurement is a measure of the quanity of the metallo protein hemoglobin A. Hemoglobin A (HbA), also known as adult hemoglobin or a2b2, is the most common human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin. It consists of two alpha chains and two beta chains." []	3179321	\N	\N	EFO	5	EFO	experimental factor	hemoglobin A1 measurement
EFO:0007630	\N	\N	"Is a quantification, typically in blood, of glycerophospholipids, a group of glycerol-based phospholipids" []	EFO:0007630	"Is a quantification, typically in blood, of glycerophospholipids, a group of glycerol-based phospholipids" []	68869	\N	\N	EFO	0	EFO	glycerophospholipid measurement	glycerophospholipid measurement
EFO:0004639	EFO:0007630	\N	"Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies." []	EFO:0007630	"Is a quantification, typically in blood, of glycerophospholipids, a group of glycerol-based phospholipids" []	211032	\N	\N	EFO	1	EFO	phospholipid measurement	glycerophospholipid measurement
EFO:0004529	EFO:0004639	\N	"A measure of circulating lipid" []	EFO:0007630	"Is a quantification, typically in blood, of glycerophospholipids, a group of glycerol-based phospholipids" []	564279	\N	\N	EFO	2	EFO	lipid measurement	glycerophospholipid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007630	"Is a quantification, typically in blood, of glycerophospholipids, a group of glycerol-based phospholipids" []	1145462	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	glycerophospholipid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007630	"Is a quantification, typically in blood, of glycerophospholipids, a group of glycerol-based phospholipids" []	2027986	\N	\N	EFO	4	EFO	measurement	glycerophospholipid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007630	"Is a quantification, typically in blood, of glycerophospholipids, a group of glycerol-based phospholipids" []	3179322	\N	\N	EFO	5	EFO	information entity	glycerophospholipid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007630	"Is a quantification, typically in blood, of glycerophospholipids, a group of glycerol-based phospholipids" []	4388724	\N	\N	EFO	6	EFO	experimental factor	glycerophospholipid measurement
EFO:0007631	\N	\N	"Is a quantification of the monosaccharide hexose in a sample, typically in blood" []	EFO:0007631	"Is a quantification of the monosaccharide hexose in a sample, typically in blood" []	68870	\N	\N	EFO	0	EFO	hexose measurement	hexose measurement
EFO:0001444	EFO:0007631	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007631	"Is a quantification of the monosaccharide hexose in a sample, typically in blood" []	211033	\N	\N	EFO	1	EFO	measurement	hexose measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007631	"Is a quantification of the monosaccharide hexose in a sample, typically in blood" []	564280	\N	\N	EFO	2	EFO	information entity	hexose measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007631	"Is a quantification of the monosaccharide hexose in a sample, typically in blood" []	1145463	\N	\N	EFO	3	EFO	experimental factor	hexose measurement
EFO:0007632	\N	\N	"elevated levels of blood lipids as a result of a high-fat meal" []	EFO:0007632	"elevated levels of blood lipids as a result of a high-fat meal" []	68871	\N	\N	EFO	0	EFO	postprandial hyperlipidemia	postprandial hyperlipidemia
EFO:0003774	EFO:0007632	\N	"Conditions with excess LIPIDS in the blood." []	EFO:0007632	"elevated levels of blood lipids as a result of a high-fat meal" []	211034	\N	\N	EFO	1	EFO	hyperlipidemia	postprandial hyperlipidemia
EFO:0007633	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thioamide stimulus. Thioamides are generally used as anti-thyroid drugs" []	EFO:0007633	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thioamide stimulus. Thioamides are generally used as anti-thyroid drugs" []	68872	\N	\N	EFO	0	EFO	response to thioamide	response to thioamide
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007633	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thioamide stimulus. Thioamides are generally used as anti-thyroid drugs" []	194876	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to thioamide
EFO:0007634	\N	\N	"period of major depressive symptoms that occurs as part of a wider mental or psychiatric disorder such as bipolar disorder" []	EFO:0007634	"period of major depressive symptoms that occurs as part of a wider mental or psychiatric disorder such as bipolar disorder" []	68873	\N	\N	EFO	0	EFO	major depressive episode	major depressive episode
HP:0000708	\N	\N	"An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson]	EFO:0007634	"period of major depressive symptoms that occurs as part of a wider mental or psychiatric disorder such as bipolar disorder" []	194877	\N	\N	EFO	0	EFO	Behavioral abnormality	major depressive episode
EFO:0007635	\N	\N	"Quantification of the metabolism rate of drugs such as psychotropic drugs, defined as the quotient of a drug's serum concentration (in nmol/L) by its prescribed daily dosage (in mg/day). This measure can also be standardised to allow comparison across multiple drugs by dividing individual CDR values by a reference CDR for the specific drug. " []	EFO:0007635	"Quantification of the metabolism rate of drugs such as psychotropic drugs, defined as the quotient of a drug's serum concentration (in nmol/L) by its prescribed daily dosage (in mg/day). This measure can also be standardised to allow comparison across multiple drugs by dividing individual CDR values by a reference CDR for the specific drug. " []	68874	\N	\N	EFO	0	EFO	concentration dose ratio	concentration dose ratio
EFO:0005115	EFO:0007635	\N	"a quantification of metabolic rate" []	EFO:0007635	"Quantification of the metabolism rate of drugs such as psychotropic drugs, defined as the quotient of a drug's serum concentration (in nmol/L) by its prescribed daily dosage (in mg/day). This measure can also be standardised to allow comparison across multiple drugs by dividing individual CDR values by a reference CDR for the specific drug. " []	211035	\N	\N	EFO	1	EFO	metabolic rate measurement	concentration dose ratio
EFO:0001444	EFO:0005115	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007635	"Quantification of the metabolism rate of drugs such as psychotropic drugs, defined as the quotient of a drug's serum concentration (in nmol/L) by its prescribed daily dosage (in mg/day). This measure can also be standardised to allow comparison across multiple drugs by dividing individual CDR values by a reference CDR for the specific drug. " []	564281	\N	\N	EFO	2	EFO	measurement	concentration dose ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007635	"Quantification of the metabolism rate of drugs such as psychotropic drugs, defined as the quotient of a drug's serum concentration (in nmol/L) by its prescribed daily dosage (in mg/day). This measure can also be standardised to allow comparison across multiple drugs by dividing individual CDR values by a reference CDR for the specific drug. " []	1145464	\N	\N	EFO	3	EFO	information entity	concentration dose ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007635	"Quantification of the metabolism rate of drugs such as psychotropic drugs, defined as the quotient of a drug's serum concentration (in nmol/L) by its prescribed daily dosage (in mg/day). This measure can also be standardised to allow comparison across multiple drugs by dividing individual CDR values by a reference CDR for the specific drug. " []	2027987	\N	\N	EFO	4	EFO	experimental factor	concentration dose ratio
EFO:0007636	\N	\N	"quantification of an individual's attention function through administration of one or more standardised tests such as the Connors Continuous Performance Test-II (CPT-II)" []	EFO:0007636	"quantification of an individual's attention function through administration of one or more standardised tests such as the Connors Continuous Performance Test-II (CPT-II)" []	68875	\N	\N	EFO	0	EFO	attention function measurement	attention function measurement
EFO:0006848	EFO:0007636	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007636	"quantification of an individual's attention function through administration of one or more standardised tests such as the Connors Continuous Performance Test-II (CPT-II)" []	211036	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	attention function measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007636	"quantification of an individual's attention function through administration of one or more standardised tests such as the Connors Continuous Performance Test-II (CPT-II)" []	564282	\N	\N	EFO	2	EFO	measurement	attention function measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007636	"quantification of an individual's attention function through administration of one or more standardised tests such as the Connors Continuous Performance Test-II (CPT-II)" []	1145465	\N	\N	EFO	3	EFO	information entity	attention function measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007636	"quantification of an individual's attention function through administration of one or more standardised tests such as the Connors Continuous Performance Test-II (CPT-II)" []	2027988	\N	\N	EFO	4	EFO	experimental factor	attention function measurement
EFO:0007637	\N	\N	"one of several constitutional types used to classify individuals in traditional Chinese medicine" []	EFO:0007637	"one of several constitutional types used to classify individuals in traditional Chinese medicine" []	68876	\N	\N	EFO	0	EFO	traditional Chinese medicine type	traditional Chinese medicine type
BFO:0000019	EFO:0007637	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007637	"one of several constitutional types used to classify individuals in traditional Chinese medicine" []	211037	\N	\N	EFO	1	EFO	quality	traditional Chinese medicine type
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007637	"one of several constitutional types used to classify individuals in traditional Chinese medicine" []	564283	\N	\N	EFO	2	EFO	material property	traditional Chinese medicine type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007637	"one of several constitutional types used to classify individuals in traditional Chinese medicine" []	1145466	\N	\N	EFO	3	EFO	experimental factor	traditional Chinese medicine type
EFO:0007638	\N	\N	"One of the constitution types used in TCM. The Yu-Zhi (YZ) constitution in TCM indicates stasis and stagnation, which expressed dull, lusterless skin color; dry, cracked, scaly or tough skin; dull purple lips or tongue; localized pain or numb- ness; knotted, intermittent, or uneven pulse. It is one of the body constitutions that tend to express blood stasis syndrome (BSS), a morbid state caused by blood circula- tion disturbance, included extravasated blood, blood circulating sluggishly, or blood congested in viscera, that may turn into pathogenic factors." []	EFO:0007638	"One of the constitution types used in TCM. The Yu-Zhi (YZ) constitution in TCM indicates stasis and stagnation, which expressed dull, lusterless skin color; dry, cracked, scaly or tough skin; dull purple lips or tongue; localized pain or numb- ness; knotted, intermittent, or uneven pulse. It is one of the body constitutions that tend to express blood stasis syndrome (BSS), a morbid state caused by blood circula- tion disturbance, included extravasated blood, blood circulating sluggishly, or blood congested in viscera, that may turn into pathogenic factors." []	68877	\N	\N	EFO	0	EFO	Yu-Zhi constitution type	Yu-Zhi constitution type
EFO:0007637	EFO:0007638	\N	"one of several constitutional types used to classify individuals in traditional Chinese medicine" []	EFO:0007638	"One of the constitution types used in TCM. The Yu-Zhi (YZ) constitution in TCM indicates stasis and stagnation, which expressed dull, lusterless skin color; dry, cracked, scaly or tough skin; dull purple lips or tongue; localized pain or numb- ness; knotted, intermittent, or uneven pulse. It is one of the body constitutions that tend to express blood stasis syndrome (BSS), a morbid state caused by blood circula- tion disturbance, included extravasated blood, blood circulating sluggishly, or blood congested in viscera, that may turn into pathogenic factors." []	211038	\N	\N	EFO	1	EFO	traditional Chinese medicine type	Yu-Zhi constitution type
BFO:0000019	EFO:0007637	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007638	"One of the constitution types used in TCM. The Yu-Zhi (YZ) constitution in TCM indicates stasis and stagnation, which expressed dull, lusterless skin color; dry, cracked, scaly or tough skin; dull purple lips or tongue; localized pain or numb- ness; knotted, intermittent, or uneven pulse. It is one of the body constitutions that tend to express blood stasis syndrome (BSS), a morbid state caused by blood circula- tion disturbance, included extravasated blood, blood circulating sluggishly, or blood congested in viscera, that may turn into pathogenic factors." []	564284	\N	\N	EFO	2	EFO	quality	Yu-Zhi constitution type
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007638	"One of the constitution types used in TCM. The Yu-Zhi (YZ) constitution in TCM indicates stasis and stagnation, which expressed dull, lusterless skin color; dry, cracked, scaly or tough skin; dull purple lips or tongue; localized pain or numb- ness; knotted, intermittent, or uneven pulse. It is one of the body constitutions that tend to express blood stasis syndrome (BSS), a morbid state caused by blood circula- tion disturbance, included extravasated blood, blood circulating sluggishly, or blood congested in viscera, that may turn into pathogenic factors." []	1145467	\N	\N	EFO	3	EFO	material property	Yu-Zhi constitution type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007638	"One of the constitution types used in TCM. The Yu-Zhi (YZ) constitution in TCM indicates stasis and stagnation, which expressed dull, lusterless skin color; dry, cracked, scaly or tough skin; dull purple lips or tongue; localized pain or numb- ness; knotted, intermittent, or uneven pulse. It is one of the body constitutions that tend to express blood stasis syndrome (BSS), a morbid state caused by blood circula- tion disturbance, included extravasated blood, blood circulating sluggishly, or blood congested in viscera, that may turn into pathogenic factors." []	2027989	\N	\N	EFO	4	EFO	experimental factor	Yu-Zhi constitution type
EFO:0007639	\N	\N	"quantification of an individual's sensitity to UV radiation, defined as the shortest exposure to ultraviolet radiation that produces reddening of the skin within 1 to 6 hr and disappears in 24 hr" []	EFO:0007639	"quantification of an individual's sensitity to UV radiation, defined as the shortest exposure to ultraviolet radiation that produces reddening of the skin within 1 to 6 hr and disappears in 24 hr" []	68878	\N	\N	EFO	0	EFO	minimal erythema dose	minimal erythema dose
EFO:0001444	EFO:0007639	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007639	"quantification of an individual's sensitity to UV radiation, defined as the shortest exposure to ultraviolet radiation that produces reddening of the skin within 1 to 6 hr and disappears in 24 hr" []	211039	\N	\N	EFO	1	EFO	measurement	minimal erythema dose
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007639	"quantification of an individual's sensitity to UV radiation, defined as the shortest exposure to ultraviolet radiation that produces reddening of the skin within 1 to 6 hr and disappears in 24 hr" []	564285	\N	\N	EFO	2	EFO	information entity	minimal erythema dose
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007639	"quantification of an individual's sensitity to UV radiation, defined as the shortest exposure to ultraviolet radiation that produces reddening of the skin within 1 to 6 hr and disappears in 24 hr" []	1145468	\N	\N	EFO	3	EFO	experimental factor	minimal erythema dose
EFO:0007640	\N	\N	"mouse embryo stage at age 12 days" []	EFO:0007640	"mouse embryo stage at age 12 days" []	68879	\N	\N	EFO	0	EFO	embryonic day 12	embryonic day 12
EFO:0005857	EFO:0007640	\N	"An embryo stage for the mouse species." []	EFO:0007640	"mouse embryo stage at age 12 days" []	211040	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 12
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0007640	"mouse embryo stage at age 12 days" []	564286	\N	\N	EFO	2	EFO	embryo stage	embryonic day 12
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0007640	"mouse embryo stage at age 12 days" []	1145469	\N	\N	EFO	3	EFO	developmental stage	embryonic day 12
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007640	"mouse embryo stage at age 12 days" []	2027990	\N	\N	EFO	4	EFO	process	embryonic day 12
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007640	"mouse embryo stage at age 12 days" []	3179323	\N	\N	EFO	5	EFO	experimental factor	embryonic day 12
EFO:0007641	\N	\N	"mouse embryo stage at age 9.5 days" []	EFO:0007641	"mouse embryo stage at age 9.5 days" []	68880	\N	\N	EFO	0	EFO	embryonic day 9.5	embryonic day 9.5
EFO:0005857	EFO:0007641	\N	"An embryo stage for the mouse species." []	EFO:0007641	"mouse embryo stage at age 9.5 days" []	211041	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 9.5
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0007641	"mouse embryo stage at age 9.5 days" []	564287	\N	\N	EFO	2	EFO	embryo stage	embryonic day 9.5
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0007641	"mouse embryo stage at age 9.5 days" []	1145470	\N	\N	EFO	3	EFO	developmental stage	embryonic day 9.5
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007641	"mouse embryo stage at age 9.5 days" []	2027991	\N	\N	EFO	4	EFO	process	embryonic day 9.5
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007641	"mouse embryo stage at age 9.5 days" []	3179324	\N	\N	EFO	5	EFO	experimental factor	embryonic day 9.5
EFO:0007642	\N	\N	"mouse embryo stage at age 13 days" []	EFO:0007642	"mouse embryo stage at age 13 days" []	68881	\N	\N	EFO	0	EFO	embryonic day 13	embryonic day 13
EFO:0005857	EFO:0007642	\N	"An embryo stage for the mouse species." []	EFO:0007642	"mouse embryo stage at age 13 days" []	211042	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 13
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0007642	"mouse embryo stage at age 13 days" []	564288	\N	\N	EFO	2	EFO	embryo stage	embryonic day 13
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0007642	"mouse embryo stage at age 13 days" []	1145471	\N	\N	EFO	3	EFO	developmental stage	embryonic day 13
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007642	"mouse embryo stage at age 13 days" []	2027992	\N	\N	EFO	4	EFO	process	embryonic day 13
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007642	"mouse embryo stage at age 13 days" []	3179325	\N	\N	EFO	5	EFO	experimental factor	embryonic day 13
EFO:0007643	\N	\N	"mouse embryo stage at age 10.5 days" []	EFO:0007643	"mouse embryo stage at age 10.5 days" []	68882	\N	\N	EFO	0	EFO	embryonic day 10.5	embryonic day 10.5
EFO:0005857	EFO:0007643	\N	"An embryo stage for the mouse species." []	EFO:0007643	"mouse embryo stage at age 10.5 days" []	211043	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 10.5
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0007643	"mouse embryo stage at age 10.5 days" []	564289	\N	\N	EFO	2	EFO	embryo stage	embryonic day 10.5
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0007643	"mouse embryo stage at age 10.5 days" []	1145472	\N	\N	EFO	3	EFO	developmental stage	embryonic day 10.5
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007643	"mouse embryo stage at age 10.5 days" []	2027993	\N	\N	EFO	4	EFO	process	embryonic day 10.5
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007643	"mouse embryo stage at age 10.5 days" []	3179326	\N	\N	EFO	5	EFO	experimental factor	embryonic day 10.5
EFO:0007644	\N	\N	"mouse embryo stage at age 9 days" []	EFO:0007644	"mouse embryo stage at age 9 days" []	68883	\N	\N	EFO	0	EFO	embryonic day 9	embryonic day 9
EFO:0005857	EFO:0007644	\N	"An embryo stage for the mouse species." []	EFO:0007644	"mouse embryo stage at age 9 days" []	211044	\N	\N	EFO	1	EFO	mouse embryo stage	embryonic day 9
EFO:0007725	EFO:0005857	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0007644	"mouse embryo stage at age 9 days" []	564290	\N	\N	EFO	2	EFO	embryo stage	embryonic day 9
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0007644	"mouse embryo stage at age 9 days" []	1145473	\N	\N	EFO	3	EFO	developmental stage	embryonic day 9
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007644	"mouse embryo stage at age 9 days" []	2027994	\N	\N	EFO	4	EFO	process	embryonic day 9
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007644	"mouse embryo stage at age 9 days" []	3179327	\N	\N	EFO	5	EFO	experimental factor	embryonic day 9
EFO:0007645	\N	\N	"quantification of some aspect of alcohol consumption over a long period of time (typically several years)" []	EFO:0007645	"quantification of some aspect of alcohol consumption over a long period of time (typically several years)" []	68884	\N	\N	EFO	0	EFO	longitudinal alcohol consumption measurement	longitudinal alcohol consumption measurement
EFO:0007878	EFO:0007645	\N	"quantification of some aspect of alcohol consumption such as frequency or quantity" []	EFO:0007645	"quantification of some aspect of alcohol consumption over a long period of time (typically several years)" []	211045	\N	\N	EFO	1	EFO	alcohol consumption measurement	longitudinal alcohol consumption measurement
EFO:0001444	EFO:0007878	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007645	"quantification of some aspect of alcohol consumption over a long period of time (typically several years)" []	564291	\N	\N	EFO	2	EFO	measurement	longitudinal alcohol consumption measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007645	"quantification of some aspect of alcohol consumption over a long period of time (typically several years)" []	1145474	\N	\N	EFO	3	EFO	information entity	longitudinal alcohol consumption measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007645	"quantification of some aspect of alcohol consumption over a long period of time (typically several years)" []	2027995	\N	\N	EFO	4	EFO	experimental factor	longitudinal alcohol consumption measurement
EFO:0007646	\N	\N	"quantification of accumulation of amyloid plaques in the brain over a long period of time (typically several years), measured by using PET scan imaging technology. The accumulation of amyloid plaques can be a biomarker for Alzheimer's disease" []	EFO:0007646	"quantification of accumulation of amyloid plaques in the brain over a long period of time (typically several years), measured by using PET scan imaging technology. The accumulation of amyloid plaques can be a biomarker for Alzheimer's disease" []	68885	\N	\N	EFO	0	EFO	amyloid plaque accumulation rate	amyloid plaque accumulation rate
EFO:0004464	EFO:0007646	\N	"" []	EFO:0007646	"quantification of accumulation of amyloid plaques in the brain over a long period of time (typically several years), measured by using PET scan imaging technology. The accumulation of amyloid plaques can be a biomarker for Alzheimer's disease" []	211046	\N	\N	EFO	1	EFO	brain measurement	amyloid plaque accumulation rate
EFO:0006514	EFO:0007646	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0007646	"quantification of accumulation of amyloid plaques in the brain over a long period of time (typically several years), measured by using PET scan imaging technology. The accumulation of amyloid plaques can be a biomarker for Alzheimer's disease" []	211047	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	amyloid plaque accumulation rate
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007646	"quantification of accumulation of amyloid plaques in the brain over a long period of time (typically several years), measured by using PET scan imaging technology. The accumulation of amyloid plaques can be a biomarker for Alzheimer's disease" []	564292	\N	\N	EFO	2	EFO	measurement	amyloid plaque accumulation rate
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007646	"quantification of accumulation of amyloid plaques in the brain over a long period of time (typically several years), measured by using PET scan imaging technology. The accumulation of amyloid plaques can be a biomarker for Alzheimer's disease" []	564293	\N	\N	EFO	2	EFO	measurement	amyloid plaque accumulation rate
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007646	"quantification of accumulation of amyloid plaques in the brain over a long period of time (typically several years), measured by using PET scan imaging technology. The accumulation of amyloid plaques can be a biomarker for Alzheimer's disease" []	1145475	\N	\N	EFO	3	EFO	information entity	amyloid plaque accumulation rate
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007646	"quantification of accumulation of amyloid plaques in the brain over a long period of time (typically several years), measured by using PET scan imaging technology. The accumulation of amyloid plaques can be a biomarker for Alzheimer's disease" []	2027996	\N	\N	EFO	4	EFO	experimental factor	amyloid plaque accumulation rate
EFO:0007647	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with vancomycin, an antibiotic used to fight infections by gram-positive bacteria unresponsive to other antibiotics" []	EFO:0007647	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with vancomycin, an antibiotic used to fight infections by gram-positive bacteria unresponsive to other antibiotics" []	68886	\N	\N	EFO	0	EFO	response to vancomycin	response to vancomycin
GO:0046677	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms." [GOC:ai, GOC:ef]	EFO:0007647	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with vancomycin, an antibiotic used to fight infections by gram-positive bacteria unresponsive to other antibiotics" []	194878	\N	goslim_chembl,gosubset_prok	EFO	0	EFO	response to antibiotic	response to vancomycin
EFO:0007648	\N	\N	"quantification of the lowest concentration of vancomycin in a patient's blood during the course of treatment. Trough measurements are used to calculate the rate of absorption of the drug and determine the optimum time for administering the next dose" []	EFO:0007648	"quantification of the lowest concentration of vancomycin in a patient's blood during the course of treatment. Trough measurements are used to calculate the rate of absorption of the drug and determine the optimum time for administering the next dose" []	68887	\N	\N	EFO	0	EFO	vancomycin trough measurement	vancomycin trough measurement
EFO:0001444	EFO:0007648	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007648	"quantification of the lowest concentration of vancomycin in a patient's blood during the course of treatment. Trough measurements are used to calculate the rate of absorption of the drug and determine the optimum time for administering the next dose" []	211048	\N	\N	EFO	1	EFO	measurement	vancomycin trough measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007648	"quantification of the lowest concentration of vancomycin in a patient's blood during the course of treatment. Trough measurements are used to calculate the rate of absorption of the drug and determine the optimum time for administering the next dose" []	564294	\N	\N	EFO	2	EFO	information entity	vancomycin trough measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007648	"quantification of the lowest concentration of vancomycin in a patient's blood during the course of treatment. Trough measurements are used to calculate the rate of absorption of the drug and determine the optimum time for administering the next dose" []	1145476	\N	\N	EFO	3	EFO	experimental factor	vancomycin trough measurement
EFO:0007649	\N	\N	"quantification of the rate at which the kidneys eliminate a substance from the blood stream" []	EFO:0007649	"quantification of the rate at which the kidneys eliminate a substance from the blood stream" []	68888	\N	\N	EFO	0	EFO	renal elimination rate measurement	renal elimination rate measurement
EFO:0004742	EFO:0007649	\N	"Is a quantification of some renal system biomarker" []	EFO:0007649	"quantification of the rate at which the kidneys eliminate a substance from the blood stream" []	211049	\N	\N	EFO	1	EFO	renal system measurement	renal elimination rate measurement
EFO:0001444	EFO:0004742	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007649	"quantification of the rate at which the kidneys eliminate a substance from the blood stream" []	564295	\N	\N	EFO	2	EFO	measurement	renal elimination rate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007649	"quantification of the rate at which the kidneys eliminate a substance from the blood stream" []	1145477	\N	\N	EFO	3	EFO	information entity	renal elimination rate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007649	"quantification of the rate at which the kidneys eliminate a substance from the blood stream" []	2027997	\N	\N	EFO	4	EFO	experimental factor	renal elimination rate measurement
EFO:0007650	\N	\N	"quantification of the amount of soluble interleukin-2 receptor subunit alpha in a sample" []	EFO:0007650	"quantification of the amount of soluble interleukin-2 receptor subunit alpha in a sample" []	68889	\N	\N	EFO	0	EFO	soluble interleukin-2 receptor subunit alpha measurement	soluble interleukin-2 receptor subunit alpha measurement
EFO:0004873	EFO:0007650	\N	"Is a quantification of some cytokine, secreted cell signalling molecules." []	EFO:0007650	"quantification of the amount of soluble interleukin-2 receptor subunit alpha in a sample" []	211050	\N	\N	EFO	1	EFO	cytokine measurement	soluble interleukin-2 receptor subunit alpha measurement
EFO:0004747	EFO:0004873	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007650	"quantification of the amount of soluble interleukin-2 receptor subunit alpha in a sample" []	564296	\N	\N	EFO	2	EFO	protein measurement	soluble interleukin-2 receptor subunit alpha measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007650	"quantification of the amount of soluble interleukin-2 receptor subunit alpha in a sample" []	1145478	\N	\N	EFO	3	EFO	measurement	soluble interleukin-2 receptor subunit alpha measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007650	"quantification of the amount of soluble interleukin-2 receptor subunit alpha in a sample" []	2027998	\N	\N	EFO	4	EFO	information entity	soluble interleukin-2 receptor subunit alpha measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007650	"quantification of the amount of soluble interleukin-2 receptor subunit alpha in a sample" []	3179328	\N	\N	EFO	5	EFO	experimental factor	soluble interleukin-2 receptor subunit alpha measurement
EFO:0007651	\N	\N	"quantification in a urine sample of S-phenylmercapturic acid, a specific biomarker of benzene uptake in smokers" []	EFO:0007651	"quantification in a urine sample of S-phenylmercapturic acid, a specific biomarker of benzene uptake in smokers" []	68890	\N	\N	EFO	0	EFO	urinary S-phenylmercapturic acid measurement	urinary S-phenylmercapturic acid measurement
EFO:0005116	EFO:0007651	\N	"quantification of some metabolite in urine" []	EFO:0007651	"quantification in a urine sample of S-phenylmercapturic acid, a specific biomarker of benzene uptake in smokers" []	211051	\N	\N	EFO	1	EFO	urinary metabolite measurement	urinary S-phenylmercapturic acid measurement
EFO:0004725	EFO:0005116	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0007651	"quantification in a urine sample of S-phenylmercapturic acid, a specific biomarker of benzene uptake in smokers" []	564297	\N	\N	EFO	2	EFO	metabolite measurement	urinary S-phenylmercapturic acid measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007651	"quantification in a urine sample of S-phenylmercapturic acid, a specific biomarker of benzene uptake in smokers" []	1145479	\N	\N	EFO	3	EFO	measurement	urinary S-phenylmercapturic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007651	"quantification in a urine sample of S-phenylmercapturic acid, a specific biomarker of benzene uptake in smokers" []	2027999	\N	\N	EFO	4	EFO	information entity	urinary S-phenylmercapturic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007651	"quantification in a urine sample of S-phenylmercapturic acid, a specific biomarker of benzene uptake in smokers" []	3179329	\N	\N	EFO	5	EFO	experimental factor	urinary S-phenylmercapturic acid measurement
EFO:0007652	\N	\N	"The characteristics in health that a certain person has." []	EFO:0007652	"The characteristics in health that a certain person has." []	68891	\N	\N	EFO	0	EFO	health trait	health trait
BFO:0000019	EFO:0007652	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007652	"The characteristics in health that a certain person has." []	211052	\N	\N	EFO	1	EFO	quality	health trait
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007652	"The characteristics in health that a certain person has." []	564298	\N	\N	EFO	2	EFO	material property	health trait
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007652	"The characteristics in health that a certain person has." []	1145480	\N	\N	EFO	3	EFO	experimental factor	health trait
EFO:0007653	\N	\N	"the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure and diabetes status" []	EFO:0007653	"the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure and diabetes status" []	68892	\N	\N	EFO	0	EFO	clinical ideal cardiovascular health	clinical ideal cardiovascular health
EFO:0007652	EFO:0007653	\N	"The characteristics in health that a certain person has." []	EFO:0007653	"the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure and diabetes status" []	211053	\N	\N	EFO	1	EFO	health trait	clinical ideal cardiovascular health
BFO:0000019	EFO:0007652	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007653	"the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure and diabetes status" []	564299	\N	\N	EFO	2	EFO	quality	clinical ideal cardiovascular health
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007653	"the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure and diabetes status" []	1145481	\N	\N	EFO	3	EFO	material property	clinical ideal cardiovascular health
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007653	"the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure and diabetes status" []	2028000	\N	\N	EFO	4	EFO	experimental factor	clinical ideal cardiovascular health
EFO:0007654	\N	\N	"the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure, diabetes status, BMI and smoking status" []	EFO:0007654	"the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure, diabetes status, BMI and smoking status" []	68893	\N	\N	EFO	0	EFO	clinical and behavioural ideal cardiovascular health	clinical and behavioural ideal cardiovascular health
EFO:0007652	EFO:0007654	\N	"The characteristics in health that a certain person has." []	EFO:0007654	"the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure, diabetes status, BMI and smoking status" []	211054	\N	\N	EFO	1	EFO	health trait	clinical and behavioural ideal cardiovascular health
BFO:0000019	EFO:0007652	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007654	"the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure, diabetes status, BMI and smoking status" []	564300	\N	\N	EFO	2	EFO	quality	clinical and behavioural ideal cardiovascular health
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007654	"the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure, diabetes status, BMI and smoking status" []	1145482	\N	\N	EFO	3	EFO	material property	clinical and behavioural ideal cardiovascular health
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007654	"the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure, diabetes status, BMI and smoking status" []	2028001	\N	\N	EFO	4	EFO	experimental factor	clinical and behavioural ideal cardiovascular health
EFO:0007655	\N	\N	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	EFO:0007655	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	68894	\N	\N	EFO	0	EFO	clusterin measurement	clusterin measurement
EFO:0004555	EFO:0007655	\N	"Is the quantification of some glycoprotein." []	EFO:0007655	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	211055	\N	\N	EFO	1	EFO	glycoprotein measurement	clusterin measurement
EFO:0004732	EFO:0007655	\N	"Is the quantification of some lipoprotein" []	EFO:0007655	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	211056	\N	\N	EFO	1	EFO	lipoprotein measurement	clusterin measurement
EFO:0004747	EFO:0004555	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007655	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	564301	\N	\N	EFO	2	EFO	protein measurement	clusterin measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007655	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	564302	\N	\N	EFO	2	EFO	protein measurement	clusterin measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0007655	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	564303	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	clusterin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007655	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	1145483	\N	\N	EFO	3	EFO	measurement	clusterin measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007655	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	1145484	\N	\N	EFO	3	EFO	measurement	clusterin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007655	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	2028002	\N	\N	EFO	4	EFO	information entity	clusterin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007655	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	3179330	\N	\N	EFO	5	EFO	experimental factor	clusterin measurement
EFO:0007656	\N	\N	"quantification of the amount of the clusterin in a sample of blood plasma" []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	68895	\N	\N	EFO	0	EFO	plasma clusterin measurement	plasma clusterin measurement
EFO:0006514	EFO:0007656	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	211057	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	plasma clusterin measurement
EFO:0007655	EFO:0007656	\N	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	211058	\N	\N	EFO	1	EFO	clusterin measurement	plasma clusterin measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	564304	\N	\N	EFO	2	EFO	measurement	plasma clusterin measurement
EFO:0004555	EFO:0007655	\N	"Is the quantification of some glycoprotein." []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	564305	\N	\N	EFO	2	EFO	glycoprotein measurement	plasma clusterin measurement
EFO:0004732	EFO:0007655	\N	"Is the quantification of some lipoprotein" []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	564306	\N	\N	EFO	2	EFO	lipoprotein measurement	plasma clusterin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	3179331	\N	\N	EFO	5	EFO	information entity	plasma clusterin measurement
EFO:0004747	EFO:0004555	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	1145486	\N	\N	EFO	3	EFO	protein measurement	plasma clusterin measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	1145487	\N	\N	EFO	3	EFO	protein measurement	plasma clusterin measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	1145488	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	plasma clusterin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	4066734	\N	\N	EFO	6	EFO	experimental factor	plasma clusterin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	2028004	\N	\N	EFO	4	EFO	measurement	plasma clusterin measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007656	"quantification of the amount of the clusterin in a sample of blood plasma" []	2028005	\N	\N	EFO	4	EFO	measurement	plasma clusterin measurement
EFO:0007657	\N	\N	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	68896	\N	\N	EFO	0	EFO	cerebrospinal fluid clusterin measurement	cerebrospinal fluid clusterin measurement
EFO:0006514	EFO:0007657	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	211059	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	cerebrospinal fluid clusterin measurement
EFO:0007655	EFO:0007657	\N	"quantification of the amount of the glycoprotein clusterin in a sample. Clusterin is also known as apolipoprotein J and plays a role in several cellular processes including apoptosis, proliferation, and clearance of misfolded proteins" []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	211060	\N	\N	EFO	1	EFO	clusterin measurement	cerebrospinal fluid clusterin measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	564307	\N	\N	EFO	2	EFO	measurement	cerebrospinal fluid clusterin measurement
EFO:0004555	EFO:0007655	\N	"Is the quantification of some glycoprotein." []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	564308	\N	\N	EFO	2	EFO	glycoprotein measurement	cerebrospinal fluid clusterin measurement
EFO:0004732	EFO:0007655	\N	"Is the quantification of some lipoprotein" []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	564309	\N	\N	EFO	2	EFO	lipoprotein measurement	cerebrospinal fluid clusterin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	3179332	\N	\N	EFO	5	EFO	information entity	cerebrospinal fluid clusterin measurement
EFO:0004747	EFO:0004555	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	1145490	\N	\N	EFO	3	EFO	protein measurement	cerebrospinal fluid clusterin measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	1145491	\N	\N	EFO	3	EFO	protein measurement	cerebrospinal fluid clusterin measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	1145492	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	cerebrospinal fluid clusterin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	4066735	\N	\N	EFO	6	EFO	experimental factor	cerebrospinal fluid clusterin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	2028007	\N	\N	EFO	4	EFO	measurement	cerebrospinal fluid clusterin measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007657	"quantification of the amount of the clusterin in a sample of cerebrospinal fluid" []	2028008	\N	\N	EFO	4	EFO	measurement	cerebrospinal fluid clusterin measurement
EFO:0007658	\N	\N	"quantification of the presence or absence of a marker, eg a gene or a substance, in a sample" []	EFO:0007658	"quantification of the presence or absence of a marker, eg a gene or a substance, in a sample" []	68897	\N	\N	EFO	0	EFO	carrier status	carrier status
EFO:0001444	EFO:0007658	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007658	"quantification of the presence or absence of a marker, eg a gene or a substance, in a sample" []	211061	\N	\N	EFO	1	EFO	measurement	carrier status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007658	"quantification of the presence or absence of a marker, eg a gene or a substance, in a sample" []	564310	\N	\N	EFO	2	EFO	information entity	carrier status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007658	"quantification of the presence or absence of a marker, eg a gene or a substance, in a sample" []	1145493	\N	\N	EFO	3	EFO	experimental factor	carrier status
EFO:0007659	\N	\N	"quantification of the presence or absence of apolipoprotein E (APOE) in an individual" []	EFO:0007659	"quantification of the presence or absence of apolipoprotein E (APOE) in an individual" []	68898	\N	\N	EFO	0	EFO	APOE carrier status	APOE carrier status
EFO:0007658	EFO:0007659	\N	"quantification of the presence or absence of a marker, eg a gene or a substance, in a sample" []	EFO:0007659	"quantification of the presence or absence of apolipoprotein E (APOE) in an individual" []	211062	\N	\N	EFO	1	EFO	carrier status	APOE carrier status
EFO:0001444	EFO:0007658	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007659	"quantification of the presence or absence of apolipoprotein E (APOE) in an individual" []	564311	\N	\N	EFO	2	EFO	measurement	APOE carrier status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007659	"quantification of the presence or absence of apolipoprotein E (APOE) in an individual" []	1145494	\N	\N	EFO	3	EFO	information entity	APOE carrier status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007659	"quantification of the presence or absence of apolipoprotein E (APOE) in an individual" []	2028009	\N	\N	EFO	4	EFO	experimental factor	APOE carrier status
EFO:0007660	\N	\N	"Quantification of some aspect of neuroticism or neurotic behaviour, such as severity or frequency of neurotic behaviour. This is usually assessed via a standardised questionnaire." []	EFO:0007660	"Quantification of some aspect of neuroticism or neurotic behaviour, such as severity or frequency of neurotic behaviour. This is usually assessed via a standardised questionnaire." []	68899	\N	\N	EFO	0	EFO	neuroticism measurement	neuroticism measurement
EFO:0006848	EFO:0007660	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007660	"Quantification of some aspect of neuroticism or neurotic behaviour, such as severity or frequency of neurotic behaviour. This is usually assessed via a standardised questionnaire." []	211063	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	neuroticism measurement
EFO:0007911	EFO:0007660	\N	"quantification of some aspect of personality traits, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	EFO:0007660	"Quantification of some aspect of neuroticism or neurotic behaviour, such as severity or frequency of neurotic behaviour. This is usually assessed via a standardised questionnaire." []	211064	\N	\N	EFO	1	EFO	personality trait measurement	neuroticism measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007660	"Quantification of some aspect of neuroticism or neurotic behaviour, such as severity or frequency of neurotic behaviour. This is usually assessed via a standardised questionnaire." []	564312	\N	\N	EFO	2	EFO	measurement	neuroticism measurement
EFO:0001444	EFO:0007911	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007660	"Quantification of some aspect of neuroticism or neurotic behaviour, such as severity or frequency of neurotic behaviour. This is usually assessed via a standardised questionnaire." []	564313	\N	\N	EFO	2	EFO	measurement	neuroticism measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007660	"Quantification of some aspect of neuroticism or neurotic behaviour, such as severity or frequency of neurotic behaviour. This is usually assessed via a standardised questionnaire." []	1145495	\N	\N	EFO	3	EFO	information entity	neuroticism measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007660	"Quantification of some aspect of neuroticism or neurotic behaviour, such as severity or frequency of neurotic behaviour. This is usually assessed via a standardised questionnaire." []	2028010	\N	\N	EFO	4	EFO	experimental factor	neuroticism measurement
EFO:0007661	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lamotrigine stimulus, an anti-epileptic drug." []	EFO:0007661	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lamotrigine stimulus, an anti-epileptic drug." []	68900	\N	\N	EFO	0	EFO	response to lamotrigine	response to lamotrigine
GO:0036277	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anticonvulsant stimulus, a drug used to prevent seizures or reduce their severity." [CHEBI:35623, GOC:hp]	EFO:0007661	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lamotrigine stimulus, an anti-epileptic drug." []	194879	\N	gocheck_do_not_manually_annotate	EFO	0	EFO	response to anticonvulsant	response to lamotrigine
EFO:0007662	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a triptolide stimulus. Triptolide is a  therapeutic diterpenoid derived from the Chinese herb Tripterygium wilfordii and has been shown to induce apoptosis by activation of pro-apoptotic proteins, inhibiting NFkB and c-KIT pathways, suppressing the Jak2 transcription, activating MAPK8/JNK signaling and modulating the heat shock responses." []	EFO:0007662	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a triptolide stimulus. Triptolide is a  therapeutic diterpenoid derived from the Chinese herb Tripterygium wilfordii and has been shown to induce apoptosis by activation of pro-apoptotic proteins, inhibiting NFkB and c-KIT pathways, suppressing the Jak2 transcription, activating MAPK8/JNK signaling and modulating the heat shock responses." []	68901	\N	\N	EFO	0	EFO	response to triptolide	response to triptolide
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007662	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a triptolide stimulus. Triptolide is a  therapeutic diterpenoid derived from the Chinese herb Tripterygium wilfordii and has been shown to induce apoptosis by activation of pro-apoptotic proteins, inhibiting NFkB and c-KIT pathways, suppressing the Jak2 transcription, activating MAPK8/JNK signaling and modulating the heat shock responses." []	194880	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to triptolide
EFO:0007663	\N	\N	"quantification of some aspect of aggressive behaviour during childhood, usually assessed through the use of standardised questionnaires. Childhood aggressive behaviour is a criterion for disruptive behavior disorders such as oppositional defiant disorder (ODD) and conduct disorder (CD) [American Psychiatric Association, 2013]. Aggressive behavior is also implicated in neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) [Hamshere et al., 2013], autism spectrum disorder (ASD) [Mandy et al., 2013], dysregulated behavior [Pope and Bierman, 1999], substance use disorders [White et al., 2013], antisocial personality disorder [Schaeffer et al., 2003], and schizophrenia [Volavka, 2013] later in life." []	EFO:0007663	"quantification of some aspect of aggressive behaviour during childhood, usually assessed through the use of standardised questionnaires. Childhood aggressive behaviour is a criterion for disruptive behavior disorders such as oppositional defiant disorder (ODD) and conduct disorder (CD) [American Psychiatric Association, 2013]. Aggressive behavior is also implicated in neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) [Hamshere et al., 2013], autism spectrum disorder (ASD) [Mandy et al., 2013], dysregulated behavior [Pope and Bierman, 1999], substance use disorders [White et al., 2013], antisocial personality disorder [Schaeffer et al., 2003], and schizophrenia [Volavka, 2013] later in life." []	68902	\N	\N	EFO	0	EFO	childhood aggressive behaviour measurement	childhood aggressive behaviour measurement
EFO:0006848	EFO:0007663	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007663	"quantification of some aspect of aggressive behaviour during childhood, usually assessed through the use of standardised questionnaires. Childhood aggressive behaviour is a criterion for disruptive behavior disorders such as oppositional defiant disorder (ODD) and conduct disorder (CD) [American Psychiatric Association, 2013]. Aggressive behavior is also implicated in neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) [Hamshere et al., 2013], autism spectrum disorder (ASD) [Mandy et al., 2013], dysregulated behavior [Pope and Bierman, 1999], substance use disorders [White et al., 2013], antisocial personality disorder [Schaeffer et al., 2003], and schizophrenia [Volavka, 2013] later in life." []	211065	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	childhood aggressive behaviour measurement
EFO:0007826	EFO:0007663	\N	"quantification of some aspect of aggressive behaviour" []	EFO:0007663	"quantification of some aspect of aggressive behaviour during childhood, usually assessed through the use of standardised questionnaires. Childhood aggressive behaviour is a criterion for disruptive behavior disorders such as oppositional defiant disorder (ODD) and conduct disorder (CD) [American Psychiatric Association, 2013]. Aggressive behavior is also implicated in neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) [Hamshere et al., 2013], autism spectrum disorder (ASD) [Mandy et al., 2013], dysregulated behavior [Pope and Bierman, 1999], substance use disorders [White et al., 2013], antisocial personality disorder [Schaeffer et al., 2003], and schizophrenia [Volavka, 2013] later in life." []	211066	\N	\N	EFO	1	EFO	aggressive behaviour measurement	childhood aggressive behaviour measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007663	"quantification of some aspect of aggressive behaviour during childhood, usually assessed through the use of standardised questionnaires. Childhood aggressive behaviour is a criterion for disruptive behavior disorders such as oppositional defiant disorder (ODD) and conduct disorder (CD) [American Psychiatric Association, 2013]. Aggressive behavior is also implicated in neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) [Hamshere et al., 2013], autism spectrum disorder (ASD) [Mandy et al., 2013], dysregulated behavior [Pope and Bierman, 1999], substance use disorders [White et al., 2013], antisocial personality disorder [Schaeffer et al., 2003], and schizophrenia [Volavka, 2013] later in life." []	564314	\N	\N	EFO	2	EFO	measurement	childhood aggressive behaviour measurement
EFO:0001444	EFO:0007826	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007663	"quantification of some aspect of aggressive behaviour during childhood, usually assessed through the use of standardised questionnaires. Childhood aggressive behaviour is a criterion for disruptive behavior disorders such as oppositional defiant disorder (ODD) and conduct disorder (CD) [American Psychiatric Association, 2013]. Aggressive behavior is also implicated in neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) [Hamshere et al., 2013], autism spectrum disorder (ASD) [Mandy et al., 2013], dysregulated behavior [Pope and Bierman, 1999], substance use disorders [White et al., 2013], antisocial personality disorder [Schaeffer et al., 2003], and schizophrenia [Volavka, 2013] later in life." []	564315	\N	\N	EFO	2	EFO	measurement	childhood aggressive behaviour measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007663	"quantification of some aspect of aggressive behaviour during childhood, usually assessed through the use of standardised questionnaires. Childhood aggressive behaviour is a criterion for disruptive behavior disorders such as oppositional defiant disorder (ODD) and conduct disorder (CD) [American Psychiatric Association, 2013]. Aggressive behavior is also implicated in neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) [Hamshere et al., 2013], autism spectrum disorder (ASD) [Mandy et al., 2013], dysregulated behavior [Pope and Bierman, 1999], substance use disorders [White et al., 2013], antisocial personality disorder [Schaeffer et al., 2003], and schizophrenia [Volavka, 2013] later in life." []	1145496	\N	\N	EFO	3	EFO	information entity	childhood aggressive behaviour measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007663	"quantification of some aspect of aggressive behaviour during childhood, usually assessed through the use of standardised questionnaires. Childhood aggressive behaviour is a criterion for disruptive behavior disorders such as oppositional defiant disorder (ODD) and conduct disorder (CD) [American Psychiatric Association, 2013]. Aggressive behavior is also implicated in neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) [Hamshere et al., 2013], autism spectrum disorder (ASD) [Mandy et al., 2013], dysregulated behavior [Pope and Bierman, 1999], substance use disorders [White et al., 2013], antisocial personality disorder [Schaeffer et al., 2003], and schizophrenia [Volavka, 2013] later in life." []	2028011	\N	\N	EFO	4	EFO	experimental factor	childhood aggressive behaviour measurement
EFO:0007664	\N	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0007664	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	68903	\N	\N	EFO	0	EFO	outer ear morphology trait	outer ear morphology trait
EFO:0000651	EFO:0007664	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007664	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	211067	\N	\N	EFO	1	EFO	phenotype	outer ear morphology trait
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007664	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	564316	\N	\N	EFO	2	EFO	quality	outer ear morphology trait
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007664	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	1145497	\N	\N	EFO	3	EFO	material property	outer ear morphology trait
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007664	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	2028012	\N	\N	EFO	4	EFO	experimental factor	outer ear morphology trait
EFO:0007665	\N	\N	"the physical distance from the outer edge of the outer ear to the head" []	EFO:0007665	"the physical distance from the outer edge of the outer ear to the head" []	68904	\N	\N	EFO	0	EFO	ear protrusion	ear protrusion
EFO:0007664	EFO:0007665	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0007665	"the physical distance from the outer edge of the outer ear to the head" []	211068	\N	\N	EFO	1	EFO	outer ear morphology trait	ear protrusion
EFO:0000651	EFO:0007664	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007665	"the physical distance from the outer edge of the outer ear to the head" []	564317	\N	\N	EFO	2	EFO	phenotype	ear protrusion
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007665	"the physical distance from the outer edge of the outer ear to the head" []	1145498	\N	\N	EFO	3	EFO	quality	ear protrusion
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007665	"the physical distance from the outer edge of the outer ear to the head" []	2028013	\N	\N	EFO	4	EFO	material property	ear protrusion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007665	"the physical distance from the outer edge of the outer ear to the head" []	3179333	\N	\N	EFO	5	EFO	experimental factor	ear protrusion
EFO:0007666	\N	\N	"Any measurable or observable characteristic related to the physical magnitude of the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage." []	EFO:0007666	"Any measurable or observable characteristic related to the physical magnitude of the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage." []	68905	\N	\N	EFO	0	EFO	lobe size	lobe size
EFO:0007664	EFO:0007666	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0007666	"Any measurable or observable characteristic related to the physical magnitude of the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage." []	211069	\N	\N	EFO	1	EFO	outer ear morphology trait	lobe size
EFO:0000651	EFO:0007664	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007666	"Any measurable or observable characteristic related to the physical magnitude of the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage." []	564318	\N	\N	EFO	2	EFO	phenotype	lobe size
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007666	"Any measurable or observable characteristic related to the physical magnitude of the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage." []	1145499	\N	\N	EFO	3	EFO	quality	lobe size
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007666	"Any measurable or observable characteristic related to the physical magnitude of the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage." []	2028014	\N	\N	EFO	4	EFO	material property	lobe size
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007666	"Any measurable or observable characteristic related to the physical magnitude of the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage." []	3179334	\N	\N	EFO	5	EFO	experimental factor	lobe size
EFO:0007667	\N	\N	"Any measurable or observable characteristic related to the physical attachment of the soft tissue at the base of the outer ear to the head. If an earlobe hangs free, it is referred to as \\"detached\\". If it connects directly to the side of the head, it is referred to as \\"attached\\". Earlobe attachment is a continuous trait: while most earlobes can be neatly categorised as attached or detached, some are in-between." []	EFO:0007667	"Any measurable or observable characteristic related to the physical attachment of the soft tissue at the base of the outer ear to the head. If an earlobe hangs free, it is referred to as \\"detached\\". If it connects directly to the side of the head, it is referred to as \\"attached\\". Earlobe attachment is a continuous trait: while most earlobes can be neatly categorised as attached or detached, some are in-between." []	68906	\N	\N	EFO	0	EFO	lobe attachment	lobe attachment
EFO:0007664	EFO:0007667	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0007667	"Any measurable or observable characteristic related to the physical attachment of the soft tissue at the base of the outer ear to the head. If an earlobe hangs free, it is referred to as \\"detached\\". If it connects directly to the side of the head, it is referred to as \\"attached\\". Earlobe attachment is a continuous trait: while most earlobes can be neatly categorised as attached or detached, some are in-between." []	211070	\N	\N	EFO	1	EFO	outer ear morphology trait	lobe attachment
EFO:0000651	EFO:0007664	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007667	"Any measurable or observable characteristic related to the physical attachment of the soft tissue at the base of the outer ear to the head. If an earlobe hangs free, it is referred to as \\"detached\\". If it connects directly to the side of the head, it is referred to as \\"attached\\". Earlobe attachment is a continuous trait: while most earlobes can be neatly categorised as attached or detached, some are in-between." []	564319	\N	\N	EFO	2	EFO	phenotype	lobe attachment
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007667	"Any measurable or observable characteristic related to the physical attachment of the soft tissue at the base of the outer ear to the head. If an earlobe hangs free, it is referred to as \\"detached\\". If it connects directly to the side of the head, it is referred to as \\"attached\\". Earlobe attachment is a continuous trait: while most earlobes can be neatly categorised as attached or detached, some are in-between." []	1145500	\N	\N	EFO	3	EFO	quality	lobe attachment
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007667	"Any measurable or observable characteristic related to the physical attachment of the soft tissue at the base of the outer ear to the head. If an earlobe hangs free, it is referred to as \\"detached\\". If it connects directly to the side of the head, it is referred to as \\"attached\\". Earlobe attachment is a continuous trait: while most earlobes can be neatly categorised as attached or detached, some are in-between." []	2028015	\N	\N	EFO	4	EFO	material property	lobe attachment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007667	"Any measurable or observable characteristic related to the physical attachment of the soft tissue at the base of the outer ear to the head. If an earlobe hangs free, it is referred to as \\"detached\\". If it connects directly to the side of the head, it is referred to as \\"attached\\". Earlobe attachment is a continuous trait: while most earlobes can be neatly categorised as attached or detached, some are in-between." []	3179335	\N	\N	EFO	5	EFO	experimental factor	lobe attachment
EFO:0007668	\N	\N	"Any measurable or observable characteristic related to the size of the tragus, a small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus" []	EFO:0007668	"Any measurable or observable characteristic related to the size of the tragus, a small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus" []	68907	\N	\N	EFO	0	EFO	tragus size	tragus size
EFO:0007664	EFO:0007668	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0007668	"Any measurable or observable characteristic related to the size of the tragus, a small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus" []	211071	\N	\N	EFO	1	EFO	outer ear morphology trait	tragus size
EFO:0000651	EFO:0007664	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007668	"Any measurable or observable characteristic related to the size of the tragus, a small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus" []	564320	\N	\N	EFO	2	EFO	phenotype	tragus size
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007668	"Any measurable or observable characteristic related to the size of the tragus, a small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus" []	1145501	\N	\N	EFO	3	EFO	quality	tragus size
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007668	"Any measurable or observable characteristic related to the size of the tragus, a small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus" []	2028016	\N	\N	EFO	4	EFO	material property	tragus size
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007668	"Any measurable or observable characteristic related to the size of the tragus, a small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus" []	3179336	\N	\N	EFO	5	EFO	experimental factor	tragus size
EFO:0007669	\N	\N	"Any measurable or observable characteristic related to the size of the antitragus, a feature of human ear anatomy. It is a small tubercle that points anteriorly. It is separated from the tragus by the intertragic notch." []	EFO:0007669	"Any measurable or observable characteristic related to the size of the antitragus, a feature of human ear anatomy. It is a small tubercle that points anteriorly. It is separated from the tragus by the intertragic notch." []	68908	\N	\N	EFO	0	EFO	antitragus size	antitragus size
EFO:0007664	EFO:0007669	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0007669	"Any measurable or observable characteristic related to the size of the antitragus, a feature of human ear anatomy. It is a small tubercle that points anteriorly. It is separated from the tragus by the intertragic notch." []	211072	\N	\N	EFO	1	EFO	outer ear morphology trait	antitragus size
EFO:0000651	EFO:0007664	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007669	"Any measurable or observable characteristic related to the size of the antitragus, a feature of human ear anatomy. It is a small tubercle that points anteriorly. It is separated from the tragus by the intertragic notch." []	564321	\N	\N	EFO	2	EFO	phenotype	antitragus size
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007669	"Any measurable or observable characteristic related to the size of the antitragus, a feature of human ear anatomy. It is a small tubercle that points anteriorly. It is separated from the tragus by the intertragic notch." []	1145502	\N	\N	EFO	3	EFO	quality	antitragus size
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007669	"Any measurable or observable characteristic related to the size of the antitragus, a feature of human ear anatomy. It is a small tubercle that points anteriorly. It is separated from the tragus by the intertragic notch." []	2028017	\N	\N	EFO	4	EFO	material property	antitragus size
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007669	"Any measurable or observable characteristic related to the size of the antitragus, a feature of human ear anatomy. It is a small tubercle that points anteriorly. It is separated from the tragus by the intertragic notch." []	3179337	\N	\N	EFO	5	EFO	experimental factor	antitragus size
EFO:0007670	\N	\N	"Any measurable or observable characteristic related to the shape and structure of the helix, the outer rim of the ear. The border of the helix usually forms a rolled rim but it is highly variable in shape." []	EFO:0007670	"Any measurable or observable characteristic related to the shape and structure of the helix, the outer rim of the ear. The border of the helix usually forms a rolled rim but it is highly variable in shape." []	68909	\N	\N	EFO	0	EFO	helix rolling	helix rolling
EFO:0007664	EFO:0007670	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0007670	"Any measurable or observable characteristic related to the shape and structure of the helix, the outer rim of the ear. The border of the helix usually forms a rolled rim but it is highly variable in shape." []	211073	\N	\N	EFO	1	EFO	outer ear morphology trait	helix rolling
EFO:0000651	EFO:0007664	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007670	"Any measurable or observable characteristic related to the shape and structure of the helix, the outer rim of the ear. The border of the helix usually forms a rolled rim but it is highly variable in shape." []	564322	\N	\N	EFO	2	EFO	phenotype	helix rolling
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007670	"Any measurable or observable characteristic related to the shape and structure of the helix, the outer rim of the ear. The border of the helix usually forms a rolled rim but it is highly variable in shape." []	1145503	\N	\N	EFO	3	EFO	quality	helix rolling
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007670	"Any measurable or observable characteristic related to the shape and structure of the helix, the outer rim of the ear. The border of the helix usually forms a rolled rim but it is highly variable in shape." []	2028018	\N	\N	EFO	4	EFO	material property	helix rolling
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007670	"Any measurable or observable characteristic related to the shape and structure of the helix, the outer rim of the ear. The border of the helix usually forms a rolled rim but it is highly variable in shape." []	3179338	\N	\N	EFO	5	EFO	experimental factor	helix rolling
EFO:0007671	\N	\N	"Any measurable or observable characteristic related to the shape and structure of the antihelix, a Y-shaped curved cartilaginous ridge arising from the antitragus and separating the concha, triangular fossa, and scapha. The antihelix represents a folding of the conchal cartilage and it usually has similar prominence to a well-developed helix. The stem (the part below the bifurcation) of the normal antihelix is gently curved and branches about two thirds of the way along its course to form the broad fold of the superior (posterior) antihelical crus, and the more sharply folded inferior (anterior) crus. The inferior and superior crura of the antihelix can vary both in volume and degree of folding." []	EFO:0007671	"Any measurable or observable characteristic related to the shape and structure of the antihelix, a Y-shaped curved cartilaginous ridge arising from the antitragus and separating the concha, triangular fossa, and scapha. The antihelix represents a folding of the conchal cartilage and it usually has similar prominence to a well-developed helix. The stem (the part below the bifurcation) of the normal antihelix is gently curved and branches about two thirds of the way along its course to form the broad fold of the superior (posterior) antihelical crus, and the more sharply folded inferior (anterior) crus. The inferior and superior crura of the antihelix can vary both in volume and degree of folding." []	68910	\N	\N	EFO	0	EFO	folding of antihelix	folding of antihelix
EFO:0007664	EFO:0007671	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0007671	"Any measurable or observable characteristic related to the shape and structure of the antihelix, a Y-shaped curved cartilaginous ridge arising from the antitragus and separating the concha, triangular fossa, and scapha. The antihelix represents a folding of the conchal cartilage and it usually has similar prominence to a well-developed helix. The stem (the part below the bifurcation) of the normal antihelix is gently curved and branches about two thirds of the way along its course to form the broad fold of the superior (posterior) antihelical crus, and the more sharply folded inferior (anterior) crus. The inferior and superior crura of the antihelix can vary both in volume and degree of folding." []	211074	\N	\N	EFO	1	EFO	outer ear morphology trait	folding of antihelix
EFO:0000651	EFO:0007664	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007671	"Any measurable or observable characteristic related to the shape and structure of the antihelix, a Y-shaped curved cartilaginous ridge arising from the antitragus and separating the concha, triangular fossa, and scapha. The antihelix represents a folding of the conchal cartilage and it usually has similar prominence to a well-developed helix. The stem (the part below the bifurcation) of the normal antihelix is gently curved and branches about two thirds of the way along its course to form the broad fold of the superior (posterior) antihelical crus, and the more sharply folded inferior (anterior) crus. The inferior and superior crura of the antihelix can vary both in volume and degree of folding." []	564323	\N	\N	EFO	2	EFO	phenotype	folding of antihelix
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007671	"Any measurable or observable characteristic related to the shape and structure of the antihelix, a Y-shaped curved cartilaginous ridge arising from the antitragus and separating the concha, triangular fossa, and scapha. The antihelix represents a folding of the conchal cartilage and it usually has similar prominence to a well-developed helix. The stem (the part below the bifurcation) of the normal antihelix is gently curved and branches about two thirds of the way along its course to form the broad fold of the superior (posterior) antihelical crus, and the more sharply folded inferior (anterior) crus. The inferior and superior crura of the antihelix can vary both in volume and degree of folding." []	1145504	\N	\N	EFO	3	EFO	quality	folding of antihelix
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007671	"Any measurable or observable characteristic related to the shape and structure of the antihelix, a Y-shaped curved cartilaginous ridge arising from the antitragus and separating the concha, triangular fossa, and scapha. The antihelix represents a folding of the conchal cartilage and it usually has similar prominence to a well-developed helix. The stem (the part below the bifurcation) of the normal antihelix is gently curved and branches about two thirds of the way along its course to form the broad fold of the superior (posterior) antihelical crus, and the more sharply folded inferior (anterior) crus. The inferior and superior crura of the antihelix can vary both in volume and degree of folding." []	2028019	\N	\N	EFO	4	EFO	material property	folding of antihelix
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007671	"Any measurable or observable characteristic related to the shape and structure of the antihelix, a Y-shaped curved cartilaginous ridge arising from the antitragus and separating the concha, triangular fossa, and scapha. The antihelix represents a folding of the conchal cartilage and it usually has similar prominence to a well-developed helix. The stem (the part below the bifurcation) of the normal antihelix is gently curved and branches about two thirds of the way along its course to form the broad fold of the superior (posterior) antihelical crus, and the more sharply folded inferior (anterior) crus. The inferior and superior crura of the antihelix can vary both in volume and degree of folding." []	3179339	\N	\N	EFO	5	EFO	experimental factor	folding of antihelix
EFO:0007672	\N	\N	"Any measurable or observable characteristic related to the shape and structure of the crus helix, the continuation of the anteroinferior ascending helix, which extends in a posteroinferior direction into the cavity of the concha above the external auditory meatus. The average crus helix extends about one half to two thirds the distance across the concha. " []	EFO:0007672	"Any measurable or observable characteristic related to the shape and structure of the crus helix, the continuation of the anteroinferior ascending helix, which extends in a posteroinferior direction into the cavity of the concha above the external auditory meatus. The average crus helix extends about one half to two thirds the distance across the concha. " []	68911	\N	\N	EFO	0	EFO	crus helix expression	crus helix expression
EFO:0007664	EFO:0007672	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0007672	"Any measurable or observable characteristic related to the shape and structure of the crus helix, the continuation of the anteroinferior ascending helix, which extends in a posteroinferior direction into the cavity of the concha above the external auditory meatus. The average crus helix extends about one half to two thirds the distance across the concha. " []	211075	\N	\N	EFO	1	EFO	outer ear morphology trait	crus helix expression
EFO:0000651	EFO:0007664	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007672	"Any measurable or observable characteristic related to the shape and structure of the crus helix, the continuation of the anteroinferior ascending helix, which extends in a posteroinferior direction into the cavity of the concha above the external auditory meatus. The average crus helix extends about one half to two thirds the distance across the concha. " []	564324	\N	\N	EFO	2	EFO	phenotype	crus helix expression
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007672	"Any measurable or observable characteristic related to the shape and structure of the crus helix, the continuation of the anteroinferior ascending helix, which extends in a posteroinferior direction into the cavity of the concha above the external auditory meatus. The average crus helix extends about one half to two thirds the distance across the concha. " []	1145505	\N	\N	EFO	3	EFO	quality	crus helix expression
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007672	"Any measurable or observable characteristic related to the shape and structure of the crus helix, the continuation of the anteroinferior ascending helix, which extends in a posteroinferior direction into the cavity of the concha above the external auditory meatus. The average crus helix extends about one half to two thirds the distance across the concha. " []	2028020	\N	\N	EFO	4	EFO	material property	crus helix expression
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007672	"Any measurable or observable characteristic related to the shape and structure of the crus helix, the continuation of the anteroinferior ascending helix, which extends in a posteroinferior direction into the cavity of the concha above the external auditory meatus. The average crus helix extends about one half to two thirds the distance across the concha. " []	3179340	\N	\N	EFO	5	EFO	experimental factor	crus helix expression
EFO:0007673	\N	\N	"Any measurable or observable characteristic related to the shape and structure of the upper cartilaginous ridge arising at the bifurcation of the antihelix that separates the scapha from the triangular fossa. The superior crus runs in a superior and slightly anterior direction and is usually less sharply folded than the lower portion and inferior crus. " []	EFO:0007673	"Any measurable or observable characteristic related to the shape and structure of the upper cartilaginous ridge arising at the bifurcation of the antihelix that separates the scapha from the triangular fossa. The superior crus runs in a superior and slightly anterior direction and is usually less sharply folded than the lower portion and inferior crus. " []	68912	\N	\N	EFO	0	EFO	superior crus of antihelix expression	superior crus of antihelix expression
EFO:0007664	EFO:0007673	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0007673	"Any measurable or observable characteristic related to the shape and structure of the upper cartilaginous ridge arising at the bifurcation of the antihelix that separates the scapha from the triangular fossa. The superior crus runs in a superior and slightly anterior direction and is usually less sharply folded than the lower portion and inferior crus. " []	211076	\N	\N	EFO	1	EFO	outer ear morphology trait	superior crus of antihelix expression
EFO:0000651	EFO:0007664	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007673	"Any measurable or observable characteristic related to the shape and structure of the upper cartilaginous ridge arising at the bifurcation of the antihelix that separates the scapha from the triangular fossa. The superior crus runs in a superior and slightly anterior direction and is usually less sharply folded than the lower portion and inferior crus. " []	564325	\N	\N	EFO	2	EFO	phenotype	superior crus of antihelix expression
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007673	"Any measurable or observable characteristic related to the shape and structure of the upper cartilaginous ridge arising at the bifurcation of the antihelix that separates the scapha from the triangular fossa. The superior crus runs in a superior and slightly anterior direction and is usually less sharply folded than the lower portion and inferior crus. " []	1145506	\N	\N	EFO	3	EFO	quality	superior crus of antihelix expression
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007673	"Any measurable or observable characteristic related to the shape and structure of the upper cartilaginous ridge arising at the bifurcation of the antihelix that separates the scapha from the triangular fossa. The superior crus runs in a superior and slightly anterior direction and is usually less sharply folded than the lower portion and inferior crus. " []	2028021	\N	\N	EFO	4	EFO	material property	superior crus of antihelix expression
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007673	"Any measurable or observable characteristic related to the shape and structure of the upper cartilaginous ridge arising at the bifurcation of the antihelix that separates the scapha from the triangular fossa. The superior crus runs in a superior and slightly anterior direction and is usually less sharply folded than the lower portion and inferior crus. " []	3179341	\N	\N	EFO	5	EFO	experimental factor	superior crus of antihelix expression
EFO:0007674	\N	\N	"a congenital ear condition which often presents as a thickening on the helix at the junction of the upper and middle thirds." []	EFO:0007674	"a congenital ear condition which often presents as a thickening on the helix at the junction of the upper and middle thirds." []	68913	\N	\N	EFO	0	EFO	Darwin's tubercule	Darwin's tubercule
EFO:0007664	EFO:0007674	\N	"Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." []	EFO:0007674	"a congenital ear condition which often presents as a thickening on the helix at the junction of the upper and middle thirds." []	211077	\N	\N	EFO	1	EFO	outer ear morphology trait	Darwin's tubercule
EFO:0000651	EFO:0007664	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007674	"a congenital ear condition which often presents as a thickening on the helix at the junction of the upper and middle thirds." []	564326	\N	\N	EFO	2	EFO	phenotype	Darwin's tubercule
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007674	"a congenital ear condition which often presents as a thickening on the helix at the junction of the upper and middle thirds." []	1145507	\N	\N	EFO	3	EFO	quality	Darwin's tubercule
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007674	"a congenital ear condition which often presents as a thickening on the helix at the junction of the upper and middle thirds." []	2028022	\N	\N	EFO	4	EFO	material property	Darwin's tubercule
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007674	"a congenital ear condition which often presents as a thickening on the helix at the junction of the upper and middle thirds." []	3179342	\N	\N	EFO	5	EFO	experimental factor	Darwin's tubercule
EFO:0007675	\N	\N	"quantification of some aspect of cancer metastases, incl presence/abscence, size, location or origin" []	EFO:0007675	"quantification of some aspect of cancer metastases, incl presence/abscence, size, location or origin" []	68914	\N	\N	EFO	0	EFO	metastasis measurement	metastasis measurement
EFO:0001444	EFO:0007675	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007675	"quantification of some aspect of cancer metastases, incl presence/abscence, size, location or origin" []	211078	\N	\N	EFO	1	EFO	measurement	metastasis measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007675	"quantification of some aspect of cancer metastases, incl presence/abscence, size, location or origin" []	564327	\N	\N	EFO	2	EFO	information entity	metastasis measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007675	"quantification of some aspect of cancer metastases, incl presence/abscence, size, location or origin" []	1145508	\N	\N	EFO	3	EFO	experimental factor	metastasis measurement
EFO:0007676	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with zileuton, a leukotriene inhibitor used for the maintenance treatment of asthma " []	EFO:0007676	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with zileuton, a leukotriene inhibitor used for the maintenance treatment of asthma " []	68915	\N	\N	EFO	0	EFO	response to zileuton	response to zileuton
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007676	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with zileuton, a leukotriene inhibitor used for the maintenance treatment of asthma " []	194881	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to zileuton
EFO:0007677	\N	\N	"peak distance between two specified opposite points on the periphery of blood-derived low-density lipoprotein (LDL) particles" []	EFO:0007677	"peak distance between two specified opposite points on the periphery of blood-derived low-density lipoprotein (LDL) particles" []	68916	\N	\N	EFO	0	EFO	LDL peak particle diameter measurement	LDL peak particle diameter measurement
EFO:0004732	EFO:0007677	\N	"Is the quantification of some lipoprotein" []	EFO:0007677	"peak distance between two specified opposite points on the periphery of blood-derived low-density lipoprotein (LDL) particles" []	211079	\N	\N	EFO	1	EFO	lipoprotein measurement	LDL peak particle diameter measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007677	"peak distance between two specified opposite points on the periphery of blood-derived low-density lipoprotein (LDL) particles" []	564328	\N	\N	EFO	2	EFO	protein measurement	LDL peak particle diameter measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0007677	"peak distance between two specified opposite points on the periphery of blood-derived low-density lipoprotein (LDL) particles" []	564329	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	LDL peak particle diameter measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007677	"peak distance between two specified opposite points on the periphery of blood-derived low-density lipoprotein (LDL) particles" []	1145509	\N	\N	EFO	3	EFO	measurement	LDL peak particle diameter measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007677	"peak distance between two specified opposite points on the periphery of blood-derived low-density lipoprotein (LDL) particles" []	1145510	\N	\N	EFO	3	EFO	measurement	LDL peak particle diameter measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007677	"peak distance between two specified opposite points on the periphery of blood-derived low-density lipoprotein (LDL) particles" []	2028023	\N	\N	EFO	4	EFO	information entity	LDL peak particle diameter measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007677	"peak distance between two specified opposite points on the periphery of blood-derived low-density lipoprotein (LDL) particles" []	3179343	\N	\N	EFO	5	EFO	experimental factor	LDL peak particle diameter measurement
EFO:0007678	\N	\N	"quantification of the total amount of dietary fat consumed by an individual" []	EFO:0007678	"quantification of the total amount of dietary fat consumed by an individual" []	68917	\N	\N	EFO	0	EFO	total fat intake measurement	total fat intake measurement
EFO:0008111	EFO:0007678	\N	"quantification of some aspect of diet, including diet patterns, balance of nutrient consumption and glycemic load" []	EFO:0007678	"quantification of the total amount of dietary fat consumed by an individual" []	211080	\N	\N	EFO	1	EFO	diet measurement	total fat intake measurement
EFO:0001444	EFO:0008111	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007678	"quantification of the total amount of dietary fat consumed by an individual" []	564330	\N	\N	EFO	2	EFO	measurement	total fat intake measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007678	"quantification of the total amount of dietary fat consumed by an individual" []	1145511	\N	\N	EFO	3	EFO	information entity	total fat intake measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007678	"quantification of the total amount of dietary fat consumed by an individual" []	2028024	\N	\N	EFO	4	EFO	experimental factor	total fat intake measurement
EFO:0007679	\N	\N	"quantification of some aspect of oppositional defiant disorder such as irritability or number of temper tantrums, usually assessed by means of standardised questionnaires" []	EFO:0007679	"quantification of some aspect of oppositional defiant disorder such as irritability or number of temper tantrums, usually assessed by means of standardised questionnaires" []	68918	\N	\N	EFO	0	EFO	oppositional defiant disorder measurement	oppositional defiant disorder measurement
EFO:0006848	EFO:0007679	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007679	"quantification of some aspect of oppositional defiant disorder such as irritability or number of temper tantrums, usually assessed by means of standardised questionnaires" []	211081	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	oppositional defiant disorder measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007679	"quantification of some aspect of oppositional defiant disorder such as irritability or number of temper tantrums, usually assessed by means of standardised questionnaires" []	564331	\N	\N	EFO	2	EFO	measurement	oppositional defiant disorder measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007679	"quantification of some aspect of oppositional defiant disorder such as irritability or number of temper tantrums, usually assessed by means of standardised questionnaires" []	1145512	\N	\N	EFO	3	EFO	information entity	oppositional defiant disorder measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007679	"quantification of some aspect of oppositional defiant disorder such as irritability or number of temper tantrums, usually assessed by means of standardised questionnaires" []	2028025	\N	\N	EFO	4	EFO	experimental factor	oppositional defiant disorder measurement
EFO:0007680	\N	\N	"quantification of some aspect of a person's gait such as rhythm, variability or step length" []	EFO:0007680	"quantification of some aspect of a person's gait such as rhythm, variability or step length" []	68919	\N	\N	EFO	0	EFO	gait measurement	gait measurement
EFO:0001444	EFO:0007680	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007680	"quantification of some aspect of a person's gait such as rhythm, variability or step length" []	211082	\N	\N	EFO	1	EFO	measurement	gait measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007680	"quantification of some aspect of a person's gait such as rhythm, variability or step length" []	564332	\N	\N	EFO	2	EFO	information entity	gait measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007680	"quantification of some aspect of a person's gait such as rhythm, variability or step length" []	1145513	\N	\N	EFO	3	EFO	experimental factor	gait measurement
EFO:0007681	\N	\N	"quantification of the change in triglyceride levels in an individual over time, eg over the course of several hours after a high-fat meal " []	EFO:0007681	"quantification of the change in triglyceride levels in an individual over time, eg over the course of several hours after a high-fat meal " []	68920	\N	\N	EFO	0	EFO	triglyceride change measurement	triglyceride change measurement
EFO:0004530	EFO:0007681	\N	"A triglyceride  measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease." []	EFO:0007681	"quantification of the change in triglyceride levels in an individual over time, eg over the course of several hours after a high-fat meal " []	211083	\N	\N	EFO	1	EFO	triglyceride measurement	triglyceride change measurement
EFO:0004529	EFO:0004530	\N	"A measure of circulating lipid" []	EFO:0007681	"quantification of the change in triglyceride levels in an individual over time, eg over the course of several hours after a high-fat meal " []	564333	\N	\N	EFO	2	EFO	lipid measurement	triglyceride change measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007681	"quantification of the change in triglyceride levels in an individual over time, eg over the course of several hours after a high-fat meal " []	1145514	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	triglyceride change measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007681	"quantification of the change in triglyceride levels in an individual over time, eg over the course of several hours after a high-fat meal " []	2028026	\N	\N	EFO	4	EFO	measurement	triglyceride change measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007681	"quantification of the change in triglyceride levels in an individual over time, eg over the course of several hours after a high-fat meal " []	3179344	\N	\N	EFO	5	EFO	information entity	triglyceride change measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007681	"quantification of the change in triglyceride levels in an individual over time, eg over the course of several hours after a high-fat meal " []	4388725	\N	\N	EFO	6	EFO	experimental factor	triglyceride change measurement
EFO:0007682	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with the epithelial growth factor inhibitor cetuximab." []	EFO:0007682	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with the epithelial growth factor inhibitor cetuximab." []	68921	\N	\N	EFO	0	EFO	response to cetuximab	response to cetuximab
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0007682	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with the epithelial growth factor inhibitor cetuximab." []	194882	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to cetuximab
EFO:0007683	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with a combination of the chemotherapy drugs capecitabine, oxaliplatin and bevacizumab, known as the CAPOX-B cocktail" []	EFO:0007683	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with a combination of the chemotherapy drugs capecitabine, oxaliplatin and bevacizumab, known as the CAPOX-B cocktail" []	68922	\N	\N	EFO	0	EFO	response to CAPOX-B	response to CAPOX-B
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0007683	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with a combination of the chemotherapy drugs capecitabine, oxaliplatin and bevacizumab, known as the CAPOX-B cocktail" []	194883	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to CAPOX-B
EFO:0007684	\N	\N	"physiological response of an organism, eg in terms of blood lipid levels, to the ingestition of high fat food" []	EFO:0007684	"physiological response of an organism, eg in terms of blood lipid levels, to the ingestition of high fat food" []	68923	\N	\N	EFO	0	EFO	response to high fat food intake	response to high fat food intake
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0007684	"physiological response of an organism, eg in terms of blood lipid levels, to the ingestition of high fat food" []	194884	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to high fat food intake
EFO:0007685	\N	\N	"physiological response of an organism to trichloroethylene, an industrial chemical which has been identified with neurotoxicity, hepatotoxicity, kidney toxicity, and immunotoxicity. Trichloroethylene induced hypersensitivity is a serious occupational health issue. The main clinical symptoms of this condition are cutaneous lesions, which ranges from mild forms such as multiform erythema to severe condition such as exfoliative dermatitis, Stevens-Johnson syndrome, and toxic epidermal necrolysis accompanying hepatitis, fever, leukocytosis and lymphadenopathy" []	EFO:0007685	"physiological response of an organism to trichloroethylene, an industrial chemical which has been identified with neurotoxicity, hepatotoxicity, kidney toxicity, and immunotoxicity. Trichloroethylene induced hypersensitivity is a serious occupational health issue. The main clinical symptoms of this condition are cutaneous lesions, which ranges from mild forms such as multiform erythema to severe condition such as exfoliative dermatitis, Stevens-Johnson syndrome, and toxic epidermal necrolysis accompanying hepatitis, fever, leukocytosis and lymphadenopathy" []	68924	\N	\N	EFO	0	EFO	trichloroethylene-induced hypersensitivity	trichloroethylene-induced hypersensitivity
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0007685	"physiological response of an organism to trichloroethylene, an industrial chemical which has been identified with neurotoxicity, hepatotoxicity, kidney toxicity, and immunotoxicity. Trichloroethylene induced hypersensitivity is a serious occupational health issue. The main clinical symptoms of this condition are cutaneous lesions, which ranges from mild forms such as multiform erythema to severe condition such as exfoliative dermatitis, Stevens-Johnson syndrome, and toxic epidermal necrolysis accompanying hepatitis, fever, leukocytosis and lymphadenopathy" []	194885	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	trichloroethylene-induced hypersensitivity
EFO:0007686	\N	\N	"A type of shock that occurs as a result of a surgical procedure." []	EFO:0007686	"A type of shock that occurs as a result of a surgical procedure." []	68925	\N	\N	EFO	0	EFO	surgical shock	surgical shock
EFO:0003765	EFO:0007686	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0007686	"A type of shock that occurs as a result of a surgical procedure." []	211084	\N	\N	EFO	1	EFO	sign or symptom	surgical shock
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0007686	"A type of shock that occurs as a result of a surgical procedure." []	564334	\N	\N	EFO	2	EFO	phenotype	surgical shock
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0007686	"A type of shock that occurs as a result of a surgical procedure." []	1145515	\N	\N	EFO	3	EFO	quality	surgical shock
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007686	"A type of shock that occurs as a result of a surgical procedure." []	2028027	\N	\N	EFO	4	EFO	material property	surgical shock
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007686	"A type of shock that occurs as a result of a surgical procedure." []	3179345	\N	\N	EFO	5	EFO	experimental factor	surgical shock
EFO:0007687	\N	\N	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	68926	\N	\N	EFO	0	EFO	microRNA profiling by RT-PCR	microRNA profiling by RT-PCR
EFO:0001457	EFO:0007687	\N	"An assay with input RNA" []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	211085	\N	\N	EFO	1	EFO	RNA assay	microRNA profiling by RT-PCR
EFO:0002696	EFO:0007687	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	211086	\N	\N	EFO	1	EFO	assay by array	microRNA profiling by RT-PCR
EFO:0002943	EFO:0007687	\N	"An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	211087	\N	\N	EFO	1	EFO	transcription profiling by RT-PCR	microRNA profiling by RT-PCR
EFO:0002772	EFO:0001457	\N	"" []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	564335	\N	\N	EFO	2	EFO	assay by molecule	microRNA profiling by RT-PCR
EFO:0002773	EFO:0002696	\N	"" []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	564336	\N	\N	EFO	2	EFO	assay by instrument	microRNA profiling by RT-PCR
EFO:0001032	EFO:0002943	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	564337	\N	\N	EFO	2	EFO	transcription profiling	microRNA profiling by RT-PCR
EFO:0004120	EFO:0002943	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	564338	\N	\N	EFO	2	EFO	ArrayExpress experiment type	microRNA profiling by RT-PCR
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	1145516	\N	\N	EFO	3	EFO	assay	microRNA profiling by RT-PCR
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	1145517	\N	\N	EFO	3	EFO	assay	microRNA profiling by RT-PCR
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	1145518	\N	\N	EFO	3	EFO	experimental process	microRNA profiling by RT-PCR
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	1145519	\N	\N	EFO	3	EFO	experimental process	microRNA profiling by RT-PCR
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	2028028	\N	\N	EFO	4	EFO	experimental process	microRNA profiling by RT-PCR
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	3179346	\N	\N	EFO	5	EFO	planned process	microRNA profiling by RT-PCR
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	4132783	\N	\N	EFO	6	EFO	process	microRNA profiling by RT-PCR
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007687	"An assay in which a set of microRNAs of a biological sample is analysed by reverse transcription PCR (RT-PCR)" []	5181067	\N	\N	EFO	7	EFO	experimental factor	microRNA profiling by RT-PCR
EFO:0007688	\N	\N	"Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. The genome is then cut into fragments. Next, random ligation is performed. This quantifies the proximity of fragments, because ligation happens more readily for juxtaposed fragments. Subsequently, the ligated fragments are quantified using one of a number of techniques. For example, in 3C, the ligations between two specific fragments are quantified. In contrast, Hi-C quantifies ligation events between all possible pairs of fragments simultaneously." []	EFO:0007688	"Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. The genome is then cut into fragments. Next, random ligation is performed. This quantifies the proximity of fragments, because ligation happens more readily for juxtaposed fragments. Subsequently, the ligated fragments are quantified using one of a number of techniques. For example, in 3C, the ligations between two specific fragments are quantified. In contrast, Hi-C quantifies ligation events between all possible pairs of fragments simultaneously." []	68927	\N	\N	EFO	0	EFO	Chromosome conformation capture assay	Chromosome conformation capture assay
OBI:0000070	EFO:0007688	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007688	"Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. The genome is then cut into fragments. Next, random ligation is performed. This quantifies the proximity of fragments, because ligation happens more readily for juxtaposed fragments. Subsequently, the ligated fragments are quantified using one of a number of techniques. For example, in 3C, the ligations between two specific fragments are quantified. In contrast, Hi-C quantifies ligation events between all possible pairs of fragments simultaneously." []	211088	\N	\N	EFO	1	EFO	assay	Chromosome conformation capture assay
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007688	"Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. The genome is then cut into fragments. Next, random ligation is performed. This quantifies the proximity of fragments, because ligation happens more readily for juxtaposed fragments. Subsequently, the ligated fragments are quantified using one of a number of techniques. For example, in 3C, the ligations between two specific fragments are quantified. In contrast, Hi-C quantifies ligation events between all possible pairs of fragments simultaneously." []	564339	\N	\N	EFO	2	EFO	experimental process	Chromosome conformation capture assay
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007688	"Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. The genome is then cut into fragments. Next, random ligation is performed. This quantifies the proximity of fragments, because ligation happens more readily for juxtaposed fragments. Subsequently, the ligated fragments are quantified using one of a number of techniques. For example, in 3C, the ligations between two specific fragments are quantified. In contrast, Hi-C quantifies ligation events between all possible pairs of fragments simultaneously." []	1145520	\N	\N	EFO	3	EFO	planned process	Chromosome conformation capture assay
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007688	"Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. The genome is then cut into fragments. Next, random ligation is performed. This quantifies the proximity of fragments, because ligation happens more readily for juxtaposed fragments. Subsequently, the ligated fragments are quantified using one of a number of techniques. For example, in 3C, the ligations between two specific fragments are quantified. In contrast, Hi-C quantifies ligation events between all possible pairs of fragments simultaneously." []	2028030	\N	\N	EFO	4	EFO	process	Chromosome conformation capture assay
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007688	"Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. The genome is then cut into fragments. Next, random ligation is performed. This quantifies the proximity of fragments, because ligation happens more readily for juxtaposed fragments. Subsequently, the ligated fragments are quantified using one of a number of techniques. For example, in 3C, the ligations between two specific fragments are quantified. In contrast, Hi-C quantifies ligation events between all possible pairs of fragments simultaneously." []	3179348	\N	\N	EFO	5	EFO	experimental factor	Chromosome conformation capture assay
EFO:0007689	\N	\N	"3C stands for \\"chromosome conformation capture\\", which is the original method developed for the class of techniques later collectively also called \\"chromosome conformation capture\\". A 3C experiment quantifies interactions between a single pair of genomic loci, which can be used, for example, to detect promoter-enhancer interactions. Ligated fragments are detected using PCR with known primers." []	EFO:0007689	"3C stands for \\"chromosome conformation capture\\", which is the original method developed for the class of techniques later collectively also called \\"chromosome conformation capture\\". A 3C experiment quantifies interactions between a single pair of genomic loci, which can be used, for example, to detect promoter-enhancer interactions. Ligated fragments are detected using PCR with known primers." []	68928	\N	\N	EFO	0	EFO	3C	3C
EFO:0002696	EFO:0007689	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0007689	"3C stands for \\"chromosome conformation capture\\", which is the original method developed for the class of techniques later collectively also called \\"chromosome conformation capture\\". A 3C experiment quantifies interactions between a single pair of genomic loci, which can be used, for example, to detect promoter-enhancer interactions. Ligated fragments are detected using PCR with known primers." []	211089	\N	\N	EFO	1	EFO	assay by array	3C
EFO:0007688	EFO:0007689	\N	"Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. The genome is then cut into fragments. Next, random ligation is performed. This quantifies the proximity of fragments, because ligation happens more readily for juxtaposed fragments. Subsequently, the ligated fragments are quantified using one of a number of techniques. For example, in 3C, the ligations between two specific fragments are quantified. In contrast, Hi-C quantifies ligation events between all possible pairs of fragments simultaneously." []	EFO:0007689	"3C stands for \\"chromosome conformation capture\\", which is the original method developed for the class of techniques later collectively also called \\"chromosome conformation capture\\". A 3C experiment quantifies interactions between a single pair of genomic loci, which can be used, for example, to detect promoter-enhancer interactions. Ligated fragments are detected using PCR with known primers." []	211090	\N	\N	EFO	1	EFO	Chromosome conformation capture assay	3C
EFO:0002773	EFO:0002696	\N	"" []	EFO:0007689	"3C stands for \\"chromosome conformation capture\\", which is the original method developed for the class of techniques later collectively also called \\"chromosome conformation capture\\". A 3C experiment quantifies interactions between a single pair of genomic loci, which can be used, for example, to detect promoter-enhancer interactions. Ligated fragments are detected using PCR with known primers." []	564340	\N	\N	EFO	2	EFO	assay by instrument	3C
OBI:0000070	EFO:0007688	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007689	"3C stands for \\"chromosome conformation capture\\", which is the original method developed for the class of techniques later collectively also called \\"chromosome conformation capture\\". A 3C experiment quantifies interactions between a single pair of genomic loci, which can be used, for example, to detect promoter-enhancer interactions. Ligated fragments are detected using PCR with known primers." []	564341	\N	\N	EFO	2	EFO	assay	3C
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007689	"3C stands for \\"chromosome conformation capture\\", which is the original method developed for the class of techniques later collectively also called \\"chromosome conformation capture\\". A 3C experiment quantifies interactions between a single pair of genomic loci, which can be used, for example, to detect promoter-enhancer interactions. Ligated fragments are detected using PCR with known primers." []	1145521	\N	\N	EFO	3	EFO	assay	3C
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007689	"3C stands for \\"chromosome conformation capture\\", which is the original method developed for the class of techniques later collectively also called \\"chromosome conformation capture\\". A 3C experiment quantifies interactions between a single pair of genomic loci, which can be used, for example, to detect promoter-enhancer interactions. Ligated fragments are detected using PCR with known primers." []	2028031	\N	\N	EFO	4	EFO	experimental process	3C
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007689	"3C stands for \\"chromosome conformation capture\\", which is the original method developed for the class of techniques later collectively also called \\"chromosome conformation capture\\". A 3C experiment quantifies interactions between a single pair of genomic loci, which can be used, for example, to detect promoter-enhancer interactions. Ligated fragments are detected using PCR with known primers." []	2999903	\N	\N	EFO	5	EFO	planned process	3C
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007689	"3C stands for \\"chromosome conformation capture\\", which is the original method developed for the class of techniques later collectively also called \\"chromosome conformation capture\\". A 3C experiment quantifies interactions between a single pair of genomic loci, which can be used, for example, to detect promoter-enhancer interactions. Ligated fragments are detected using PCR with known primers." []	4132784	\N	\N	EFO	6	EFO	process	3C
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007689	"3C stands for \\"chromosome conformation capture\\", which is the original method developed for the class of techniques later collectively also called \\"chromosome conformation capture\\". A 3C experiment quantifies interactions between a single pair of genomic loci, which can be used, for example, to detect promoter-enhancer interactions. Ligated fragments are detected using PCR with known primers." []	5181068	\N	\N	EFO	7	EFO	experimental factor	3C
EFO:0007690	\N	\N	"Chromosome conformation capture-on-chip (4C) is an extension of the 3C (Chromosome conformation capture) technique that studies 3-dimensional organisation and interaction of chromatin in a cell. 4C captures interactions between one specific locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to amplify the unknown sequence ligated to it. In contrast to 3C and 5C, the 4C technique does not require the prior knowledge of both interacting chromosomal regions. Results obtained using 4C are highly reproducible with most of the interactions that are detected between regions proximal to one another. On a single microarray, approximately a million interactions can be analyzed." []	EFO:0007690	"Chromosome conformation capture-on-chip (4C) is an extension of the 3C (Chromosome conformation capture) technique that studies 3-dimensional organisation and interaction of chromatin in a cell. 4C captures interactions between one specific locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to amplify the unknown sequence ligated to it. In contrast to 3C and 5C, the 4C technique does not require the prior knowledge of both interacting chromosomal regions. Results obtained using 4C are highly reproducible with most of the interactions that are detected between regions proximal to one another. On a single microarray, approximately a million interactions can be analyzed." []	68929	\N	\N	EFO	0	EFO	4C	4C
EFO:0002696	EFO:0007690	\N	"An assay which uses array based technology to determine information about nucleic acids or proteins" []	EFO:0007690	"Chromosome conformation capture-on-chip (4C) is an extension of the 3C (Chromosome conformation capture) technique that studies 3-dimensional organisation and interaction of chromatin in a cell. 4C captures interactions between one specific locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to amplify the unknown sequence ligated to it. In contrast to 3C and 5C, the 4C technique does not require the prior knowledge of both interacting chromosomal regions. Results obtained using 4C are highly reproducible with most of the interactions that are detected between regions proximal to one another. On a single microarray, approximately a million interactions can be analyzed." []	211091	\N	\N	EFO	1	EFO	assay by array	4C
EFO:0007688	EFO:0007690	\N	"Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. The genome is then cut into fragments. Next, random ligation is performed. This quantifies the proximity of fragments, because ligation happens more readily for juxtaposed fragments. Subsequently, the ligated fragments are quantified using one of a number of techniques. For example, in 3C, the ligations between two specific fragments are quantified. In contrast, Hi-C quantifies ligation events between all possible pairs of fragments simultaneously." []	EFO:0007690	"Chromosome conformation capture-on-chip (4C) is an extension of the 3C (Chromosome conformation capture) technique that studies 3-dimensional organisation and interaction of chromatin in a cell. 4C captures interactions between one specific locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to amplify the unknown sequence ligated to it. In contrast to 3C and 5C, the 4C technique does not require the prior knowledge of both interacting chromosomal regions. Results obtained using 4C are highly reproducible with most of the interactions that are detected between regions proximal to one another. On a single microarray, approximately a million interactions can be analyzed." []	211092	\N	\N	EFO	1	EFO	Chromosome conformation capture assay	4C
EFO:0002773	EFO:0002696	\N	"" []	EFO:0007690	"Chromosome conformation capture-on-chip (4C) is an extension of the 3C (Chromosome conformation capture) technique that studies 3-dimensional organisation and interaction of chromatin in a cell. 4C captures interactions between one specific locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to amplify the unknown sequence ligated to it. In contrast to 3C and 5C, the 4C technique does not require the prior knowledge of both interacting chromosomal regions. Results obtained using 4C are highly reproducible with most of the interactions that are detected between regions proximal to one another. On a single microarray, approximately a million interactions can be analyzed." []	564342	\N	\N	EFO	2	EFO	assay by instrument	4C
OBI:0000070	EFO:0007688	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007690	"Chromosome conformation capture-on-chip (4C) is an extension of the 3C (Chromosome conformation capture) technique that studies 3-dimensional organisation and interaction of chromatin in a cell. 4C captures interactions between one specific locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to amplify the unknown sequence ligated to it. In contrast to 3C and 5C, the 4C technique does not require the prior knowledge of both interacting chromosomal regions. Results obtained using 4C are highly reproducible with most of the interactions that are detected between regions proximal to one another. On a single microarray, approximately a million interactions can be analyzed." []	564343	\N	\N	EFO	2	EFO	assay	4C
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007690	"Chromosome conformation capture-on-chip (4C) is an extension of the 3C (Chromosome conformation capture) technique that studies 3-dimensional organisation and interaction of chromatin in a cell. 4C captures interactions between one specific locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to amplify the unknown sequence ligated to it. In contrast to 3C and 5C, the 4C technique does not require the prior knowledge of both interacting chromosomal regions. Results obtained using 4C are highly reproducible with most of the interactions that are detected between regions proximal to one another. On a single microarray, approximately a million interactions can be analyzed." []	1145523	\N	\N	EFO	3	EFO	assay	4C
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007690	"Chromosome conformation capture-on-chip (4C) is an extension of the 3C (Chromosome conformation capture) technique that studies 3-dimensional organisation and interaction of chromatin in a cell. 4C captures interactions between one specific locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to amplify the unknown sequence ligated to it. In contrast to 3C and 5C, the 4C technique does not require the prior knowledge of both interacting chromosomal regions. Results obtained using 4C are highly reproducible with most of the interactions that are detected between regions proximal to one another. On a single microarray, approximately a million interactions can be analyzed." []	2028033	\N	\N	EFO	4	EFO	experimental process	4C
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007690	"Chromosome conformation capture-on-chip (4C) is an extension of the 3C (Chromosome conformation capture) technique that studies 3-dimensional organisation and interaction of chromatin in a cell. 4C captures interactions between one specific locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to amplify the unknown sequence ligated to it. In contrast to 3C and 5C, the 4C technique does not require the prior knowledge of both interacting chromosomal regions. Results obtained using 4C are highly reproducible with most of the interactions that are detected between regions proximal to one another. On a single microarray, approximately a million interactions can be analyzed." []	2999904	\N	\N	EFO	5	EFO	planned process	4C
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007690	"Chromosome conformation capture-on-chip (4C) is an extension of the 3C (Chromosome conformation capture) technique that studies 3-dimensional organisation and interaction of chromatin in a cell. 4C captures interactions between one specific locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to amplify the unknown sequence ligated to it. In contrast to 3C and 5C, the 4C technique does not require the prior knowledge of both interacting chromosomal regions. Results obtained using 4C are highly reproducible with most of the interactions that are detected between regions proximal to one another. On a single microarray, approximately a million interactions can be analyzed." []	4132785	\N	\N	EFO	6	EFO	process	4C
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007690	"Chromosome conformation capture-on-chip (4C) is an extension of the 3C (Chromosome conformation capture) technique that studies 3-dimensional organisation and interaction of chromatin in a cell. 4C captures interactions between one specific locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to amplify the unknown sequence ligated to it. In contrast to 3C and 5C, the 4C technique does not require the prior knowledge of both interacting chromosomal regions. Results obtained using 4C are highly reproducible with most of the interactions that are detected between regions proximal to one another. On a single microarray, approximately a million interactions can be analyzed." []	5181069	\N	\N	EFO	7	EFO	experimental factor	4C
EFO:0007691	\N	\N	"Capture-C combines 3C and next-gen sequencing with oligonucleotide capture technology (OCT). OCT allows for hundreds of regions of interest to be isolated from a sample using specially designed RNA in solution. In Capture-C, a standard 3C experiment is performed; however the 3C ligated fragments are sonicated at the end. This allows the OCT protocol to enrich for the selected regions of interest. These enriched fragments are then sequenced. By performing an OCT, the cost and scale of the sequencing is greatly reduced, allowing many more samples to be processed, hence higher-throughput and improves the genomic resolution" []	EFO:0007691	"Capture-C combines 3C and next-gen sequencing with oligonucleotide capture technology (OCT). OCT allows for hundreds of regions of interest to be isolated from a sample using specially designed RNA in solution. In Capture-C, a standard 3C experiment is performed; however the 3C ligated fragments are sonicated at the end. This allows the OCT protocol to enrich for the selected regions of interest. These enriched fragments are then sequenced. By performing an OCT, the cost and scale of the sequencing is greatly reduced, allowing many more samples to be processed, hence higher-throughput and improves the genomic resolution" []	68930	\N	\N	EFO	0	EFO	Capture-C	Capture-C
EFO:0003740	EFO:0007691	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0007691	"Capture-C combines 3C and next-gen sequencing with oligonucleotide capture technology (OCT). OCT allows for hundreds of regions of interest to be isolated from a sample using specially designed RNA in solution. In Capture-C, a standard 3C experiment is performed; however the 3C ligated fragments are sonicated at the end. This allows the OCT protocol to enrich for the selected regions of interest. These enriched fragments are then sequenced. By performing an OCT, the cost and scale of the sequencing is greatly reduced, allowing many more samples to be processed, hence higher-throughput and improves the genomic resolution" []	211093	\N	\N	EFO	1	EFO	assay by sequencer	Capture-C
EFO:0007688	EFO:0007691	\N	"Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. The genome is then cut into fragments. Next, random ligation is performed. This quantifies the proximity of fragments, because ligation happens more readily for juxtaposed fragments. Subsequently, the ligated fragments are quantified using one of a number of techniques. For example, in 3C, the ligations between two specific fragments are quantified. In contrast, Hi-C quantifies ligation events between all possible pairs of fragments simultaneously." []	EFO:0007691	"Capture-C combines 3C and next-gen sequencing with oligonucleotide capture technology (OCT). OCT allows for hundreds of regions of interest to be isolated from a sample using specially designed RNA in solution. In Capture-C, a standard 3C experiment is performed; however the 3C ligated fragments are sonicated at the end. This allows the OCT protocol to enrich for the selected regions of interest. These enriched fragments are then sequenced. By performing an OCT, the cost and scale of the sequencing is greatly reduced, allowing many more samples to be processed, hence higher-throughput and improves the genomic resolution" []	211094	\N	\N	EFO	1	EFO	Chromosome conformation capture assay	Capture-C
EFO:0002773	EFO:0003740	\N	"" []	EFO:0007691	"Capture-C combines 3C and next-gen sequencing with oligonucleotide capture technology (OCT). OCT allows for hundreds of regions of interest to be isolated from a sample using specially designed RNA in solution. In Capture-C, a standard 3C experiment is performed; however the 3C ligated fragments are sonicated at the end. This allows the OCT protocol to enrich for the selected regions of interest. These enriched fragments are then sequenced. By performing an OCT, the cost and scale of the sequencing is greatly reduced, allowing many more samples to be processed, hence higher-throughput and improves the genomic resolution" []	564344	\N	\N	EFO	2	EFO	assay by instrument	Capture-C
OBI:0000070	EFO:0007688	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007691	"Capture-C combines 3C and next-gen sequencing with oligonucleotide capture technology (OCT). OCT allows for hundreds of regions of interest to be isolated from a sample using specially designed RNA in solution. In Capture-C, a standard 3C experiment is performed; however the 3C ligated fragments are sonicated at the end. This allows the OCT protocol to enrich for the selected regions of interest. These enriched fragments are then sequenced. By performing an OCT, the cost and scale of the sequencing is greatly reduced, allowing many more samples to be processed, hence higher-throughput and improves the genomic resolution" []	564345	\N	\N	EFO	2	EFO	assay	Capture-C
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007691	"Capture-C combines 3C and next-gen sequencing with oligonucleotide capture technology (OCT). OCT allows for hundreds of regions of interest to be isolated from a sample using specially designed RNA in solution. In Capture-C, a standard 3C experiment is performed; however the 3C ligated fragments are sonicated at the end. This allows the OCT protocol to enrich for the selected regions of interest. These enriched fragments are then sequenced. By performing an OCT, the cost and scale of the sequencing is greatly reduced, allowing many more samples to be processed, hence higher-throughput and improves the genomic resolution" []	1145525	\N	\N	EFO	3	EFO	assay	Capture-C
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007691	"Capture-C combines 3C and next-gen sequencing with oligonucleotide capture technology (OCT). OCT allows for hundreds of regions of interest to be isolated from a sample using specially designed RNA in solution. In Capture-C, a standard 3C experiment is performed; however the 3C ligated fragments are sonicated at the end. This allows the OCT protocol to enrich for the selected regions of interest. These enriched fragments are then sequenced. By performing an OCT, the cost and scale of the sequencing is greatly reduced, allowing many more samples to be processed, hence higher-throughput and improves the genomic resolution" []	2028035	\N	\N	EFO	4	EFO	experimental process	Capture-C
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007691	"Capture-C combines 3C and next-gen sequencing with oligonucleotide capture technology (OCT). OCT allows for hundreds of regions of interest to be isolated from a sample using specially designed RNA in solution. In Capture-C, a standard 3C experiment is performed; however the 3C ligated fragments are sonicated at the end. This allows the OCT protocol to enrich for the selected regions of interest. These enriched fragments are then sequenced. By performing an OCT, the cost and scale of the sequencing is greatly reduced, allowing many more samples to be processed, hence higher-throughput and improves the genomic resolution" []	2999905	\N	\N	EFO	5	EFO	planned process	Capture-C
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007691	"Capture-C combines 3C and next-gen sequencing with oligonucleotide capture technology (OCT). OCT allows for hundreds of regions of interest to be isolated from a sample using specially designed RNA in solution. In Capture-C, a standard 3C experiment is performed; however the 3C ligated fragments are sonicated at the end. This allows the OCT protocol to enrich for the selected regions of interest. These enriched fragments are then sequenced. By performing an OCT, the cost and scale of the sequencing is greatly reduced, allowing many more samples to be processed, hence higher-throughput and improves the genomic resolution" []	4132786	\N	\N	EFO	6	EFO	process	Capture-C
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007691	"Capture-C combines 3C and next-gen sequencing with oligonucleotide capture technology (OCT). OCT allows for hundreds of regions of interest to be isolated from a sample using specially designed RNA in solution. In Capture-C, a standard 3C experiment is performed; however the 3C ligated fragments are sonicated at the end. This allows the OCT protocol to enrich for the selected regions of interest. These enriched fragments are then sequenced. By performing an OCT, the cost and scale of the sequencing is greatly reduced, allowing many more samples to be processed, hence higher-throughput and improves the genomic resolution" []	5181070	\N	\N	EFO	7	EFO	experimental factor	Capture-C
EFO:0007692	\N	\N	"5C stands for \\"Chromosome conformation capture carbon copy\\". It is an extension of the original 3C technique that studies 3-dimensional organisation and interaction of chromatin in a cell. It detects interactions among all loci by ligating universal primers to all fragments. As a result, the whole genome is covered, albeit at a relatively low coverage. The 5C technique overcomes the junctional problems at the intramolecular ligation step and is useful for constructing complex interactions of specific loci of interest. " []	EFO:0007692	"5C stands for \\"Chromosome conformation capture carbon copy\\". It is an extension of the original 3C technique that studies 3-dimensional organisation and interaction of chromatin in a cell. It detects interactions among all loci by ligating universal primers to all fragments. As a result, the whole genome is covered, albeit at a relatively low coverage. The 5C technique overcomes the junctional problems at the intramolecular ligation step and is useful for constructing complex interactions of specific loci of interest. " []	68931	\N	\N	EFO	0	EFO	5C	5C
EFO:0003740	EFO:0007692	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0007692	"5C stands for \\"Chromosome conformation capture carbon copy\\". It is an extension of the original 3C technique that studies 3-dimensional organisation and interaction of chromatin in a cell. It detects interactions among all loci by ligating universal primers to all fragments. As a result, the whole genome is covered, albeit at a relatively low coverage. The 5C technique overcomes the junctional problems at the intramolecular ligation step and is useful for constructing complex interactions of specific loci of interest. " []	211095	\N	\N	EFO	1	EFO	assay by sequencer	5C
EFO:0007688	EFO:0007692	\N	"Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. The genome is then cut into fragments. Next, random ligation is performed. This quantifies the proximity of fragments, because ligation happens more readily for juxtaposed fragments. Subsequently, the ligated fragments are quantified using one of a number of techniques. For example, in 3C, the ligations between two specific fragments are quantified. In contrast, Hi-C quantifies ligation events between all possible pairs of fragments simultaneously." []	EFO:0007692	"5C stands for \\"Chromosome conformation capture carbon copy\\". It is an extension of the original 3C technique that studies 3-dimensional organisation and interaction of chromatin in a cell. It detects interactions among all loci by ligating universal primers to all fragments. As a result, the whole genome is covered, albeit at a relatively low coverage. The 5C technique overcomes the junctional problems at the intramolecular ligation step and is useful for constructing complex interactions of specific loci of interest. " []	211096	\N	\N	EFO	1	EFO	Chromosome conformation capture assay	5C
EFO:0002773	EFO:0003740	\N	"" []	EFO:0007692	"5C stands for \\"Chromosome conformation capture carbon copy\\". It is an extension of the original 3C technique that studies 3-dimensional organisation and interaction of chromatin in a cell. It detects interactions among all loci by ligating universal primers to all fragments. As a result, the whole genome is covered, albeit at a relatively low coverage. The 5C technique overcomes the junctional problems at the intramolecular ligation step and is useful for constructing complex interactions of specific loci of interest. " []	564346	\N	\N	EFO	2	EFO	assay by instrument	5C
OBI:0000070	EFO:0007688	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007692	"5C stands for \\"Chromosome conformation capture carbon copy\\". It is an extension of the original 3C technique that studies 3-dimensional organisation and interaction of chromatin in a cell. It detects interactions among all loci by ligating universal primers to all fragments. As a result, the whole genome is covered, albeit at a relatively low coverage. The 5C technique overcomes the junctional problems at the intramolecular ligation step and is useful for constructing complex interactions of specific loci of interest. " []	564347	\N	\N	EFO	2	EFO	assay	5C
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007692	"5C stands for \\"Chromosome conformation capture carbon copy\\". It is an extension of the original 3C technique that studies 3-dimensional organisation and interaction of chromatin in a cell. It detects interactions among all loci by ligating universal primers to all fragments. As a result, the whole genome is covered, albeit at a relatively low coverage. The 5C technique overcomes the junctional problems at the intramolecular ligation step and is useful for constructing complex interactions of specific loci of interest. " []	1145527	\N	\N	EFO	3	EFO	assay	5C
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007692	"5C stands for \\"Chromosome conformation capture carbon copy\\". It is an extension of the original 3C technique that studies 3-dimensional organisation and interaction of chromatin in a cell. It detects interactions among all loci by ligating universal primers to all fragments. As a result, the whole genome is covered, albeit at a relatively low coverage. The 5C technique overcomes the junctional problems at the intramolecular ligation step and is useful for constructing complex interactions of specific loci of interest. " []	2028037	\N	\N	EFO	4	EFO	experimental process	5C
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007692	"5C stands for \\"Chromosome conformation capture carbon copy\\". It is an extension of the original 3C technique that studies 3-dimensional organisation and interaction of chromatin in a cell. It detects interactions among all loci by ligating universal primers to all fragments. As a result, the whole genome is covered, albeit at a relatively low coverage. The 5C technique overcomes the junctional problems at the intramolecular ligation step and is useful for constructing complex interactions of specific loci of interest. " []	2999906	\N	\N	EFO	5	EFO	planned process	5C
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007692	"5C stands for \\"Chromosome conformation capture carbon copy\\". It is an extension of the original 3C technique that studies 3-dimensional organisation and interaction of chromatin in a cell. It detects interactions among all loci by ligating universal primers to all fragments. As a result, the whole genome is covered, albeit at a relatively low coverage. The 5C technique overcomes the junctional problems at the intramolecular ligation step and is useful for constructing complex interactions of specific loci of interest. " []	4132787	\N	\N	EFO	6	EFO	process	5C
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007692	"5C stands for \\"Chromosome conformation capture carbon copy\\". It is an extension of the original 3C technique that studies 3-dimensional organisation and interaction of chromatin in a cell. It detects interactions among all loci by ligating universal primers to all fragments. As a result, the whole genome is covered, albeit at a relatively low coverage. The 5C technique overcomes the junctional problems at the intramolecular ligation step and is useful for constructing complex interactions of specific loci of interest. " []	5181071	\N	\N	EFO	7	EFO	experimental factor	5C
EFO:0007693	\N	\N	"Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \\"Chromosome Conformation Capture\\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." []	EFO:0007693	"Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \\"Chromosome Conformation Capture\\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." []	68932	\N	\N	EFO	0	EFO	Hi-C	Hi-C
EFO:0003740	EFO:0007693	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0007693	"Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \\"Chromosome Conformation Capture\\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." []	211097	\N	\N	EFO	1	EFO	assay by sequencer	Hi-C
EFO:0007688	EFO:0007693	\N	"Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. The genome is then cut into fragments. Next, random ligation is performed. This quantifies the proximity of fragments, because ligation happens more readily for juxtaposed fragments. Subsequently, the ligated fragments are quantified using one of a number of techniques. For example, in 3C, the ligations between two specific fragments are quantified. In contrast, Hi-C quantifies ligation events between all possible pairs of fragments simultaneously." []	EFO:0007693	"Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \\"Chromosome Conformation Capture\\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." []	211098	\N	\N	EFO	1	EFO	Chromosome conformation capture assay	Hi-C
EFO:0002773	EFO:0003740	\N	"" []	EFO:0007693	"Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \\"Chromosome Conformation Capture\\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." []	564348	\N	\N	EFO	2	EFO	assay by instrument	Hi-C
OBI:0000070	EFO:0007688	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007693	"Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \\"Chromosome Conformation Capture\\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." []	564349	\N	\N	EFO	2	EFO	assay	Hi-C
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007693	"Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \\"Chromosome Conformation Capture\\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." []	1145529	\N	\N	EFO	3	EFO	assay	Hi-C
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007693	"Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \\"Chromosome Conformation Capture\\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." []	2028039	\N	\N	EFO	4	EFO	experimental process	Hi-C
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007693	"Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \\"Chromosome Conformation Capture\\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." []	2999907	\N	\N	EFO	5	EFO	planned process	Hi-C
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007693	"Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \\"Chromosome Conformation Capture\\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." []	4132788	\N	\N	EFO	6	EFO	process	Hi-C
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007693	"Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \\"Chromosome Conformation Capture\\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." []	5181072	\N	\N	EFO	7	EFO	experimental factor	Hi-C
EFO:0007694	\N	\N	"Under environmental conditions which are favourable for reproduction, hatched larvae develop through four stages or molts, designated as L1 to L4. When conditions are stressed as in food insufficiency, C. elegans can enter an alternative third larval stage called the dauer state. Dauer is German for permanent. Dauer larvae are stress-resistant; they are thin and their mouths are sealed and cannot take in food, and they can remain in this stage for a few months.[14] Hermaphrodites produce all their sperm in the L4 stage (150 sperm per gonadal arm) and then produce only oocytes. The sperm cells are stored in the same area of the gonad as the oocytes until the first oocyte pushes the sperm into the spermatheca (a chamber wherein the oocytes become fertilized by the sperm)." []	EFO:0007694	"Under environmental conditions which are favourable for reproduction, hatched larvae develop through four stages or molts, designated as L1 to L4. When conditions are stressed as in food insufficiency, C. elegans can enter an alternative third larval stage called the dauer state. Dauer is German for permanent. Dauer larvae are stress-resistant; they are thin and their mouths are sealed and cannot take in food, and they can remain in this stage for a few months.[14] Hermaphrodites produce all their sperm in the L4 stage (150 sperm per gonadal arm) and then produce only oocytes. The sperm cells are stored in the same area of the gonad as the oocytes until the first oocyte pushes the sperm into the spermatheca (a chamber wherein the oocytes become fertilized by the sperm)." []	68933	\N	\N	EFO	0	EFO	Caenorhabditis elegans larval stage	Caenorhabditis elegans larval stage
UBERON:0000069	\N	\N	"a distinct juvenile stage many animals undergo before metamorphosis into adults. Animals with indirect development such as insects, amphibians, or cnidarians typically have a larval phase of their life cycle." [Wikipedia:Larva]	EFO:0007694	"Under environmental conditions which are favourable for reproduction, hatched larvae develop through four stages or molts, designated as L1 to L4. When conditions are stressed as in food insufficiency, C. elegans can enter an alternative third larval stage called the dauer state. Dauer is German for permanent. Dauer larvae are stress-resistant; they are thin and their mouths are sealed and cannot take in food, and they can remain in this stage for a few months.[14] Hermaphrodites produce all their sperm in the L4 stage (150 sperm per gonadal arm) and then produce only oocytes. The sperm cells are stored in the same area of the gonad as the oocytes until the first oocyte pushes the sperm into the spermatheca (a chamber wherein the oocytes become fertilized by the sperm)." []	194886	\N	efo_slim	EFO	0	EFO	larval stage	Caenorhabditis elegans larval stage
EFO:0007695	\N	\N	"Zebrafish have the ability to regenerate their fins, skin, heart, lateral line hair cells, and, during their larval stages, brain." []	EFO:0007695	"Zebrafish have the ability to regenerate their fins, skin, heart, lateral line hair cells, and, during their larval stages, brain." []	68934	\N	\N	EFO	0	EFO	Danio rerio larval stage	Danio rerio larval stage
UBERON:0000069	\N	\N	"a distinct juvenile stage many animals undergo before metamorphosis into adults. Animals with indirect development such as insects, amphibians, or cnidarians typically have a larval phase of their life cycle." [Wikipedia:Larva]	EFO:0007695	"Zebrafish have the ability to regenerate their fins, skin, heart, lateral line hair cells, and, during their larval stages, brain." []	194887	\N	efo_slim	EFO	0	EFO	larval stage	Danio rerio larval stage
EFO:0007696	\N	\N	"Protruding-mouth stage (72 h):\\n\\nModified from: Kimmel et al., 1995. Developmental Dynamics 203:253-310. Copyright  1995 Wiley-Liss, Inc. Reprinted only by permission of Wiley-Liss, a subsidiary of John Wiley & Sons, Inc.\\n\\nEL = 3.5 mm, HTA = 25 degrees. The mouth is wide open and it protrudes anteriorly just beyond the eye.\\n\\nThe blade of the pectoral fin continues to expand, now extending posteriorly over most of the length of the diminishing yolk ball " []	EFO:0007696	"Protruding-mouth stage (72 h):\\n\\nModified from: Kimmel et al., 1995. Developmental Dynamics 203:253-310. Copyright  1995 Wiley-Liss, Inc. Reprinted only by permission of Wiley-Liss, a subsidiary of John Wiley & Sons, Inc.\\n\\nEL = 3.5 mm, HTA = 25 degrees. The mouth is wide open and it protrudes anteriorly just beyond the eye.\\n\\nThe blade of the pectoral fin continues to expand, now extending posteriorly over most of the length of the diminishing yolk ball " []	68935	\N	\N	EFO	0	EFO	larval protruding mouth	larval protruding mouth
EFO:0007695	EFO:0007696	\N	"Zebrafish have the ability to regenerate their fins, skin, heart, lateral line hair cells, and, during their larval stages, brain." []	EFO:0007696	"Protruding-mouth stage (72 h):\\n\\nModified from: Kimmel et al., 1995. Developmental Dynamics 203:253-310. Copyright  1995 Wiley-Liss, Inc. Reprinted only by permission of Wiley-Liss, a subsidiary of John Wiley & Sons, Inc.\\n\\nEL = 3.5 mm, HTA = 25 degrees. The mouth is wide open and it protrudes anteriorly just beyond the eye.\\n\\nThe blade of the pectoral fin continues to expand, now extending posteriorly over most of the length of the diminishing yolk ball " []	211099	\N	\N	EFO	1	EFO	Danio rerio larval stage	larval protruding mouth
EFO:0007697	\N	\N	"quantification of the volume of grey matter in the left superior temporal gyrus, usuallly through an MRI scan" []	EFO:0007697	"quantification of the volume of grey matter in the left superior temporal gyrus, usuallly through an MRI scan" []	68936	\N	\N	EFO	0	EFO	left superior temporal gyrus grey matter volume measurement	left superior temporal gyrus grey matter volume measurement
EFO:0005420	EFO:0007697	\N	"quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." []	EFO:0007697	"quantification of the volume of grey matter in the left superior temporal gyrus, usuallly through an MRI scan" []	211100	\N	\N	EFO	1	EFO	grey matter volume measurement	left superior temporal gyrus grey matter volume measurement
EFO:0006848	EFO:0005420	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007697	"quantification of the volume of grey matter in the left superior temporal gyrus, usuallly through an MRI scan" []	564350	\N	\N	EFO	2	EFO	mental or behavioural disorder biomarker	left superior temporal gyrus grey matter volume measurement
EFO:0006930	EFO:0005420	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0007697	"quantification of the volume of grey matter in the left superior temporal gyrus, usuallly through an MRI scan" []	564351	\N	\N	EFO	2	EFO	brain volume measurement	left superior temporal gyrus grey matter volume measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007697	"quantification of the volume of grey matter in the left superior temporal gyrus, usuallly through an MRI scan" []	1145531	\N	\N	EFO	3	EFO	measurement	left superior temporal gyrus grey matter volume measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0007697	"quantification of the volume of grey matter in the left superior temporal gyrus, usuallly through an MRI scan" []	1145532	\N	\N	EFO	3	EFO	brain measurement	left superior temporal gyrus grey matter volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007697	"quantification of the volume of grey matter in the left superior temporal gyrus, usuallly through an MRI scan" []	3179355	\N	\N	EFO	5	EFO	information entity	left superior temporal gyrus grey matter volume measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007697	"quantification of the volume of grey matter in the left superior temporal gyrus, usuallly through an MRI scan" []	2028042	\N	\N	EFO	4	EFO	measurement	left superior temporal gyrus grey matter volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007697	"quantification of the volume of grey matter in the left superior temporal gyrus, usuallly through an MRI scan" []	4132789	\N	\N	EFO	6	EFO	experimental factor	left superior temporal gyrus grey matter volume measurement
EFO:0007698	\N	\N	"quantification of the presence or absence of a mutation in the gene for Glucocerebrosidase (GBA) in an individual" []	EFO:0007698	"quantification of the presence or absence of a mutation in the gene for Glucocerebrosidase (GBA) in an individual" []	68937	\N	\N	EFO	0	EFO	GBA carrier status	GBA carrier status
EFO:0007658	EFO:0007698	\N	"quantification of the presence or absence of a marker, eg a gene or a substance, in a sample" []	EFO:0007698	"quantification of the presence or absence of a mutation in the gene for Glucocerebrosidase (GBA) in an individual" []	211101	\N	\N	EFO	1	EFO	carrier status	GBA carrier status
EFO:0001444	EFO:0007658	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007698	"quantification of the presence or absence of a mutation in the gene for Glucocerebrosidase (GBA) in an individual" []	564352	\N	\N	EFO	2	EFO	measurement	GBA carrier status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007698	"quantification of the presence or absence of a mutation in the gene for Glucocerebrosidase (GBA) in an individual" []	1145533	\N	\N	EFO	3	EFO	information entity	GBA carrier status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007698	"quantification of the presence or absence of a mutation in the gene for Glucocerebrosidase (GBA) in an individual" []	2028043	\N	\N	EFO	4	EFO	experimental factor	GBA carrier status
EFO:0007699	\N	\N	"quantification of some aspect of eye movement" []	EFO:0007699	"quantification of some aspect of eye movement" []	68938	\N	\N	EFO	0	EFO	eye movement measurement	eye movement measurement
EFO:0004731	EFO:0007699	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0007699	"quantification of some aspect of eye movement" []	211102	\N	\N	EFO	1	EFO	eye measurement	eye movement measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007699	"quantification of some aspect of eye movement" []	564353	\N	\N	EFO	2	EFO	measurement	eye movement measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007699	"quantification of some aspect of eye movement" []	1145534	\N	\N	EFO	3	EFO	information entity	eye movement measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007699	"quantification of some aspect of eye movement" []	2028044	\N	\N	EFO	4	EFO	experimental factor	eye movement measurement
EFO:0007700	\N	\N	"quantification of a participants eye tracking while viewing stationary S-shaped figures" []	EFO:0007700	"quantification of a participants eye tracking while viewing stationary S-shaped figures" []	68939	\N	\N	EFO	0	EFO	exploratory eye movement measurement	exploratory eye movement measurement
EFO:0006848	EFO:0007700	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007700	"quantification of a participants eye tracking while viewing stationary S-shaped figures" []	211103	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	exploratory eye movement measurement
EFO:0007699	EFO:0007700	\N	"quantification of some aspect of eye movement" []	EFO:0007700	"quantification of a participants eye tracking while viewing stationary S-shaped figures" []	211104	\N	\N	EFO	1	EFO	eye movement measurement	exploratory eye movement measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007700	"quantification of a participants eye tracking while viewing stationary S-shaped figures" []	564354	\N	\N	EFO	2	EFO	measurement	exploratory eye movement measurement
EFO:0004731	EFO:0007699	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0007700	"quantification of a participants eye tracking while viewing stationary S-shaped figures" []	564355	\N	\N	EFO	2	EFO	eye measurement	exploratory eye movement measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007700	"quantification of a participants eye tracking while viewing stationary S-shaped figures" []	2028046	\N	\N	EFO	4	EFO	information entity	exploratory eye movement measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007700	"quantification of a participants eye tracking while viewing stationary S-shaped figures" []	1145536	\N	\N	EFO	3	EFO	measurement	exploratory eye movement measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007700	"quantification of a participants eye tracking while viewing stationary S-shaped figures" []	2999908	\N	\N	EFO	5	EFO	experimental factor	exploratory eye movement measurement
EFO:0007701	\N	\N	"mineral density of the spine bones" []	EFO:0007701	"mineral density of the spine bones" []	68940	\N	\N	EFO	0	EFO	spine bone mineral density	spine bone mineral density
EFO:0003923	EFO:0007701	\N	"The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS." []	EFO:0007701	"mineral density of the spine bones" []	211105	\N	\N	EFO	1	EFO	bone density	spine bone mineral density
EFO:0004516	EFO:0003923	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0007701	"mineral density of the spine bones" []	564356	\N	\N	EFO	2	EFO	bone fracture related measurement	spine bone mineral density
EFO:0004512	EFO:0004516	\N	"" []	EFO:0007701	"mineral density of the spine bones" []	1145537	\N	\N	EFO	3	EFO	bone measurement	spine bone mineral density
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007701	"mineral density of the spine bones" []	2028047	\N	\N	EFO	4	EFO	measurement	spine bone mineral density
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007701	"mineral density of the spine bones" []	3179356	\N	\N	EFO	5	EFO	information entity	spine bone mineral density
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007701	"mineral density of the spine bones" []	4388732	\N	\N	EFO	6	EFO	experimental factor	spine bone mineral density
EFO:0007702	\N	\N	"mineral density of the hip bone" []	EFO:0007702	"mineral density of the hip bone" []	68941	\N	\N	EFO	0	EFO	hip bone mineral density	hip bone mineral density
EFO:0003923	EFO:0007702	\N	"The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS." []	EFO:0007702	"mineral density of the hip bone" []	211106	\N	\N	EFO	1	EFO	bone density	hip bone mineral density
EFO:0004516	EFO:0003923	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0007702	"mineral density of the hip bone" []	564357	\N	\N	EFO	2	EFO	bone fracture related measurement	hip bone mineral density
EFO:0004512	EFO:0004516	\N	"" []	EFO:0007702	"mineral density of the hip bone" []	1145538	\N	\N	EFO	3	EFO	bone measurement	hip bone mineral density
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007702	"mineral density of the hip bone" []	2028048	\N	\N	EFO	4	EFO	measurement	hip bone mineral density
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007702	"mineral density of the hip bone" []	3179357	\N	\N	EFO	5	EFO	information entity	hip bone mineral density
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007702	"mineral density of the hip bone" []	4388733	\N	\N	EFO	6	EFO	experimental factor	hip bone mineral density
EFO:0007703	\N	\N	"quantification in a sample of autoantibodies against hystidil-tRNA synthetase, an enzyme which in humans is encoded by the HARS gene" []	EFO:0007703	"quantification in a sample of autoantibodies against hystidil-tRNA synthetase, an enzyme which in humans is encoded by the HARS gene" []	68942	\N	\N	EFO	0	EFO	hystidil-tRNA synthetase autoantibody measurement	hystidil-tRNA synthetase autoantibody measurement
EFO:0004866	EFO:0007703	\N	"Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein.  e.g. anti-islet autoantibodies." []	EFO:0007703	"quantification in a sample of autoantibodies against hystidil-tRNA synthetase, an enzyme which in humans is encoded by the HARS gene" []	211107	\N	\N	EFO	1	EFO	autoantibody measurement	hystidil-tRNA synthetase autoantibody measurement
EFO:0004556	EFO:0004866	\N	"Is the quantification of some antibody" []	EFO:0007703	"quantification in a sample of autoantibodies against hystidil-tRNA synthetase, an enzyme which in humans is encoded by the HARS gene" []	564358	\N	\N	EFO	2	EFO	antibody measurement	hystidil-tRNA synthetase autoantibody measurement
EFO:0006846	EFO:0004866	\N	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	EFO:0007703	"quantification in a sample of autoantibodies against hystidil-tRNA synthetase, an enzyme which in humans is encoded by the HARS gene" []	564359	\N	\N	EFO	2	EFO	autoimmune disease biomarker	hystidil-tRNA synthetase autoantibody measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007703	"quantification in a sample of autoantibodies against hystidil-tRNA synthetase, an enzyme which in humans is encoded by the HARS gene" []	1145539	\N	\N	EFO	3	EFO	measurement	hystidil-tRNA synthetase autoantibody measurement
EFO:0001444	EFO:0006846	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007703	"quantification in a sample of autoantibodies against hystidil-tRNA synthetase, an enzyme which in humans is encoded by the HARS gene" []	1145540	\N	\N	EFO	3	EFO	measurement	hystidil-tRNA synthetase autoantibody measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007703	"quantification in a sample of autoantibodies against hystidil-tRNA synthetase, an enzyme which in humans is encoded by the HARS gene" []	2028049	\N	\N	EFO	4	EFO	information entity	hystidil-tRNA synthetase autoantibody measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007703	"quantification in a sample of autoantibodies against hystidil-tRNA synthetase, an enzyme which in humans is encoded by the HARS gene" []	3179358	\N	\N	EFO	5	EFO	experimental factor	hystidil-tRNA synthetase autoantibody measurement
EFO:0007704	\N	\N	"quantification of some aspect, eg frequency or severity, of depressive episodes in patients with mental or behavioural disorders such as bipolar disorder or clinical depression" []	EFO:0007704	"quantification of some aspect, eg frequency or severity, of depressive episodes in patients with mental or behavioural disorders such as bipolar disorder or clinical depression" []	68943	\N	\N	EFO	0	EFO	depressive episode measurement	depressive episode measurement
EFO:0006848	EFO:0007704	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007704	"quantification of some aspect, eg frequency or severity, of depressive episodes in patients with mental or behavioural disorders such as bipolar disorder or clinical depression" []	211108	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	depressive episode measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007704	"quantification of some aspect, eg frequency or severity, of depressive episodes in patients with mental or behavioural disorders such as bipolar disorder or clinical depression" []	564360	\N	\N	EFO	2	EFO	measurement	depressive episode measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007704	"quantification of some aspect, eg frequency or severity, of depressive episodes in patients with mental or behavioural disorders such as bipolar disorder or clinical depression" []	1145541	\N	\N	EFO	3	EFO	information entity	depressive episode measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007704	"quantification of some aspect, eg frequency or severity, of depressive episodes in patients with mental or behavioural disorders such as bipolar disorder or clinical depression" []	2028050	\N	\N	EFO	4	EFO	experimental factor	depressive episode measurement
EFO:0007705	\N	\N	"quantification of some aspect, eg frequency or severity, of manic episodes in patients with bipolar disorder" []	EFO:0007705	"quantification of some aspect, eg frequency or severity, of manic episodes in patients with bipolar disorder" []	68944	\N	\N	EFO	0	EFO	manic episode measurement	manic episode measurement
EFO:0006848	EFO:0007705	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007705	"quantification of some aspect, eg frequency or severity, of manic episodes in patients with bipolar disorder" []	211109	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	manic episode measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007705	"quantification of some aspect, eg frequency or severity, of manic episodes in patients with bipolar disorder" []	564361	\N	\N	EFO	2	EFO	measurement	manic episode measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007705	"quantification of some aspect, eg frequency or severity, of manic episodes in patients with bipolar disorder" []	1145542	\N	\N	EFO	3	EFO	information entity	manic episode measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007705	"quantification of some aspect, eg frequency or severity, of manic episodes in patients with bipolar disorder" []	2028051	\N	\N	EFO	4	EFO	experimental factor	manic episode measurement
EFO:0007706	\N	\N	"period of manic or hypomanic symptoms that occurs as part of a wider mental or psychiatric disorder such as bipolar disorder" []	EFO:0007706	"period of manic or hypomanic symptoms that occurs as part of a wider mental or psychiatric disorder such as bipolar disorder" []	68945	\N	\N	EFO	0	EFO	manic or hypomanic episode	manic or hypomanic episode
HP:0000708	\N	\N	"An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson]	EFO:0007706	"period of manic or hypomanic symptoms that occurs as part of a wider mental or psychiatric disorder such as bipolar disorder" []	194888	\N	\N	EFO	0	EFO	Behavioral abnormality	manic or hypomanic episode
EFO:0007707	\N	\N	"quantification by PET scan imaging or other techniques of the deposition of amyloid proteins in any part of the cerebral cortex" []	EFO:0007707	"quantification by PET scan imaging or other techniques of the deposition of amyloid proteins in any part of the cerebral cortex" []	68946	\N	\N	EFO	0	EFO	cerebral amyloid deposition measurement	cerebral amyloid deposition measurement
EFO:0004747	EFO:0007707	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007707	"quantification by PET scan imaging or other techniques of the deposition of amyloid proteins in any part of the cerebral cortex" []	211110	\N	\N	EFO	1	EFO	protein measurement	cerebral amyloid deposition measurement
EFO:0006514	EFO:0007707	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0007707	"quantification by PET scan imaging or other techniques of the deposition of amyloid proteins in any part of the cerebral cortex" []	211111	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	cerebral amyloid deposition measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007707	"quantification by PET scan imaging or other techniques of the deposition of amyloid proteins in any part of the cerebral cortex" []	564362	\N	\N	EFO	2	EFO	measurement	cerebral amyloid deposition measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007707	"quantification by PET scan imaging or other techniques of the deposition of amyloid proteins in any part of the cerebral cortex" []	564363	\N	\N	EFO	2	EFO	measurement	cerebral amyloid deposition measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007707	"quantification by PET scan imaging or other techniques of the deposition of amyloid proteins in any part of the cerebral cortex" []	1145543	\N	\N	EFO	3	EFO	information entity	cerebral amyloid deposition measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007707	"quantification by PET scan imaging or other techniques of the deposition of amyloid proteins in any part of the cerebral cortex" []	2028052	\N	\N	EFO	4	EFO	experimental factor	cerebral amyloid deposition measurement
EFO:0007708	\N	\N	"quantification of the ratio of t-tau protein to beta-amyloid 1-42 protein in a sample" []	EFO:0007708	"quantification of the ratio of t-tau protein to beta-amyloid 1-42 protein in a sample" []	68947	\N	\N	EFO	0	EFO	t-tau:beta-amyloid 1-42 ratio measurement	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0004747	EFO:0007708	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007708	"quantification of the ratio of t-tau protein to beta-amyloid 1-42 protein in a sample" []	211112	\N	\N	EFO	1	EFO	protein measurement	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0006514	EFO:0007708	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0007708	"quantification of the ratio of t-tau protein to beta-amyloid 1-42 protein in a sample" []	211113	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007708	"quantification of the ratio of t-tau protein to beta-amyloid 1-42 protein in a sample" []	564364	\N	\N	EFO	2	EFO	measurement	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007708	"quantification of the ratio of t-tau protein to beta-amyloid 1-42 protein in a sample" []	564365	\N	\N	EFO	2	EFO	measurement	t-tau:beta-amyloid 1-42 ratio measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007708	"quantification of the ratio of t-tau protein to beta-amyloid 1-42 protein in a sample" []	1145544	\N	\N	EFO	3	EFO	information entity	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007708	"quantification of the ratio of t-tau protein to beta-amyloid 1-42 protein in a sample" []	2028053	\N	\N	EFO	4	EFO	experimental factor	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0007709	\N	\N	"quantification of the ratio of p-tau protein to beta-amyloid 1-42 protein in a sample" []	EFO:0007709	"quantification of the ratio of p-tau protein to beta-amyloid 1-42 protein in a sample" []	68948	\N	\N	EFO	0	EFO	p-tau:beta-amyloid 1-42 ratio measurement	p-tau:beta-amyloid 1-42 ratio measurement
EFO:0006514	EFO:0007709	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0007709	"quantification of the ratio of p-tau protein to beta-amyloid 1-42 protein in a sample" []	211114	\N	\N	EFO	1	EFO	Alzheimer's disease biomarker measurement	p-tau:beta-amyloid 1-42 ratio measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007709	"quantification of the ratio of p-tau protein to beta-amyloid 1-42 protein in a sample" []	564366	\N	\N	EFO	2	EFO	measurement	p-tau:beta-amyloid 1-42 ratio measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007709	"quantification of the ratio of p-tau protein to beta-amyloid 1-42 protein in a sample" []	1145545	\N	\N	EFO	3	EFO	information entity	p-tau:beta-amyloid 1-42 ratio measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007709	"quantification of the ratio of p-tau protein to beta-amyloid 1-42 protein in a sample" []	2028054	\N	\N	EFO	4	EFO	experimental factor	p-tau:beta-amyloid 1-42 ratio measurement
EFO:0007710	\N	\N	"quantification of some aspect of cognitive decline such as the rate at which it occurs or its severity, for example in patients with dementia or Alzheimer's disease. Cognitive decline is ususally assessed using a structured-interview protocol covering a number of standardised areas." []	EFO:0007710	"quantification of some aspect of cognitive decline such as the rate at which it occurs or its severity, for example in patients with dementia or Alzheimer's disease. Cognitive decline is ususally assessed using a structured-interview protocol covering a number of standardised areas." []	68949	\N	\N	EFO	0	EFO	cognitive decline measurement	cognitive decline measurement
EFO:0007998	EFO:0007710	\N	"quantification of some aspect of cognitive impairment such as its severity or rate of progression" []	EFO:0007710	"quantification of some aspect of cognitive decline such as the rate at which it occurs or its severity, for example in patients with dementia or Alzheimer's disease. Cognitive decline is ususally assessed using a structured-interview protocol covering a number of standardised areas." []	211115	\N	\N	EFO	1	EFO	cognitive impairment measurement	cognitive decline measurement
EFO:0001444	EFO:0007998	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007710	"quantification of some aspect of cognitive decline such as the rate at which it occurs or its severity, for example in patients with dementia or Alzheimer's disease. Cognitive decline is ususally assessed using a structured-interview protocol covering a number of standardised areas." []	564367	\N	\N	EFO	2	EFO	measurement	cognitive decline measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007710	"quantification of some aspect of cognitive decline such as the rate at which it occurs or its severity, for example in patients with dementia or Alzheimer's disease. Cognitive decline is ususally assessed using a structured-interview protocol covering a number of standardised areas." []	1145546	\N	\N	EFO	3	EFO	information entity	cognitive decline measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007710	"quantification of some aspect of cognitive decline such as the rate at which it occurs or its severity, for example in patients with dementia or Alzheimer's disease. Cognitive decline is ususally assessed using a structured-interview protocol covering a number of standardised areas." []	2028055	\N	\N	EFO	4	EFO	experimental factor	cognitive decline measurement
EFO:0007711	\N	\N	"Any developmental stage in Platyhelminthes (flatworms)" []	EFO:0007711	"Any developmental stage in Platyhelminthes (flatworms)" []	68950	\N	\N	EFO	0	EFO	Platyhelminthes life stage	Platyhelminthes life stage
EFO:0000399	EFO:0007711	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0007711	"Any developmental stage in Platyhelminthes (flatworms)" []	211116	\N	\N	EFO	1	EFO	developmental stage	Platyhelminthes life stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007711	"Any developmental stage in Platyhelminthes (flatworms)" []	564368	\N	\N	EFO	2	EFO	process	Platyhelminthes life stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007711	"Any developmental stage in Platyhelminthes (flatworms)" []	1145547	\N	\N	EFO	3	EFO	experimental factor	Platyhelminthes life stage
EFO:0007712	\N	\N	"An infectious life-cycle stage, which can infect by direct skin penetration (e.g. Schistosoma sp.) or ingestion (e.g. Fasciola sp.). Cercariae develop in and emerge from the intermediate invertebrate (snail) host. In Schistosoma sp., the cercarium attaches to the skin of the definitive host and secretes proteolytic enzymes helping it to enter into cutaneous capillary vessel; upon the penetration the cercarium sheds its tail and transforms into a schistosomulum. In Fasciola sp., cercariae encyst on vegetation as dormant metacercariae until ingestion by the definitive host." []	EFO:0007712	"An infectious life-cycle stage, which can infect by direct skin penetration (e.g. Schistosoma sp.) or ingestion (e.g. Fasciola sp.). Cercariae develop in and emerge from the intermediate invertebrate (snail) host. In Schistosoma sp., the cercarium attaches to the skin of the definitive host and secretes proteolytic enzymes helping it to enter into cutaneous capillary vessel; upon the penetration the cercarium sheds its tail and transforms into a schistosomulum. In Fasciola sp., cercariae encyst on vegetation as dormant metacercariae until ingestion by the definitive host." []	68951	\N	\N	EFO	0	EFO	cercarium	cercarium
EFO:0007711	EFO:0007712	\N	"Any developmental stage in Platyhelminthes (flatworms)" []	EFO:0007712	"An infectious life-cycle stage, which can infect by direct skin penetration (e.g. Schistosoma sp.) or ingestion (e.g. Fasciola sp.). Cercariae develop in and emerge from the intermediate invertebrate (snail) host. In Schistosoma sp., the cercarium attaches to the skin of the definitive host and secretes proteolytic enzymes helping it to enter into cutaneous capillary vessel; upon the penetration the cercarium sheds its tail and transforms into a schistosomulum. In Fasciola sp., cercariae encyst on vegetation as dormant metacercariae until ingestion by the definitive host." []	211117	\N	\N	EFO	1	EFO	Platyhelminthes life stage	cercarium
EFO:0000399	EFO:0007711	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0007712	"An infectious life-cycle stage, which can infect by direct skin penetration (e.g. Schistosoma sp.) or ingestion (e.g. Fasciola sp.). Cercariae develop in and emerge from the intermediate invertebrate (snail) host. In Schistosoma sp., the cercarium attaches to the skin of the definitive host and secretes proteolytic enzymes helping it to enter into cutaneous capillary vessel; upon the penetration the cercarium sheds its tail and transforms into a schistosomulum. In Fasciola sp., cercariae encyst on vegetation as dormant metacercariae until ingestion by the definitive host." []	564369	\N	\N	EFO	2	EFO	developmental stage	cercarium
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007712	"An infectious life-cycle stage, which can infect by direct skin penetration (e.g. Schistosoma sp.) or ingestion (e.g. Fasciola sp.). Cercariae develop in and emerge from the intermediate invertebrate (snail) host. In Schistosoma sp., the cercarium attaches to the skin of the definitive host and secretes proteolytic enzymes helping it to enter into cutaneous capillary vessel; upon the penetration the cercarium sheds its tail and transforms into a schistosomulum. In Fasciola sp., cercariae encyst on vegetation as dormant metacercariae until ingestion by the definitive host." []	1145548	\N	\N	EFO	3	EFO	process	cercarium
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007712	"An infectious life-cycle stage, which can infect by direct skin penetration (e.g. Schistosoma sp.) or ingestion (e.g. Fasciola sp.). Cercariae develop in and emerge from the intermediate invertebrate (snail) host. In Schistosoma sp., the cercarium attaches to the skin of the definitive host and secretes proteolytic enzymes helping it to enter into cutaneous capillary vessel; upon the penetration the cercarium sheds its tail and transforms into a schistosomulum. In Fasciola sp., cercariae encyst on vegetation as dormant metacercariae until ingestion by the definitive host." []	2028056	\N	\N	EFO	4	EFO	experimental factor	cercarium
EFO:0007713	\N	\N	"A tailless cercarium of Schistosoma sp, 3 hours post-infection by skin penetration of the definitive host." []	EFO:0007713	"A tailless cercarium of Schistosoma sp, 3 hours post-infection by skin penetration of the definitive host." []	68952	\N	\N	EFO	0	EFO	3 hr schistosomulum	3 hr schistosomulum
EFO:0007711	EFO:0007713	\N	"Any developmental stage in Platyhelminthes (flatworms)" []	EFO:0007713	"A tailless cercarium of Schistosoma sp, 3 hours post-infection by skin penetration of the definitive host." []	211118	\N	\N	EFO	1	EFO	Platyhelminthes life stage	3 hr schistosomulum
EFO:0000399	EFO:0007711	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0007713	"A tailless cercarium of Schistosoma sp, 3 hours post-infection by skin penetration of the definitive host." []	564370	\N	\N	EFO	2	EFO	developmental stage	3 hr schistosomulum
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007713	"A tailless cercarium of Schistosoma sp, 3 hours post-infection by skin penetration of the definitive host." []	1145549	\N	\N	EFO	3	EFO	process	3 hr schistosomulum
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007713	"A tailless cercarium of Schistosoma sp, 3 hours post-infection by skin penetration of the definitive host." []	2028057	\N	\N	EFO	4	EFO	experimental factor	3 hr schistosomulum
EFO:0007714	\N	\N	"A tailless cercarium of Schistosoma sp, 24 hours post-infection by skin penetration of the definitive host. " []	EFO:0007714	"A tailless cercarium of Schistosoma sp, 24 hours post-infection by skin penetration of the definitive host. " []	68953	\N	\N	EFO	0	EFO	24 hr schistosomulum	24 hr schistosomulum
EFO:0007711	EFO:0007714	\N	"Any developmental stage in Platyhelminthes (flatworms)" []	EFO:0007714	"A tailless cercarium of Schistosoma sp, 24 hours post-infection by skin penetration of the definitive host. " []	211119	\N	\N	EFO	1	EFO	Platyhelminthes life stage	24 hr schistosomulum
EFO:0000399	EFO:0007711	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0007714	"A tailless cercarium of Schistosoma sp, 24 hours post-infection by skin penetration of the definitive host. " []	564371	\N	\N	EFO	2	EFO	developmental stage	24 hr schistosomulum
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007714	"A tailless cercarium of Schistosoma sp, 24 hours post-infection by skin penetration of the definitive host. " []	1145550	\N	\N	EFO	3	EFO	process	24 hr schistosomulum
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007714	"A tailless cercarium of Schistosoma sp, 24 hours post-infection by skin penetration of the definitive host. " []	2028058	\N	\N	EFO	4	EFO	experimental factor	24 hr schistosomulum
EFO:0007715	\N	\N	"he mature, fully developed life stage of Platyhelminthes, usually capable of sexual reproduction. " []	EFO:0007715	"he mature, fully developed life stage of Platyhelminthes, usually capable of sexual reproduction. " []	68954	\N	\N	EFO	0	EFO	Platyhelminthes adult	Platyhelminthes adult
EFO:0007711	EFO:0007715	\N	"Any developmental stage in Platyhelminthes (flatworms)" []	EFO:0007715	"he mature, fully developed life stage of Platyhelminthes, usually capable of sexual reproduction. " []	211120	\N	\N	EFO	1	EFO	Platyhelminthes life stage	Platyhelminthes adult
EFO:0000399	EFO:0007711	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0007715	"he mature, fully developed life stage of Platyhelminthes, usually capable of sexual reproduction. " []	564372	\N	\N	EFO	2	EFO	developmental stage	Platyhelminthes adult
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007715	"he mature, fully developed life stage of Platyhelminthes, usually capable of sexual reproduction. " []	1145551	\N	\N	EFO	3	EFO	process	Platyhelminthes adult
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007715	"he mature, fully developed life stage of Platyhelminthes, usually capable of sexual reproduction. " []	2028059	\N	\N	EFO	4	EFO	experimental factor	Platyhelminthes adult
EFO:0007716	\N	\N	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	EFO:0007716	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	68955	\N	\N	EFO	0	EFO	carotid artery measurement	carotid artery measurement
EFO:0001444	EFO:0007716	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007716	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	211121	\N	\N	EFO	1	EFO	measurement	carotid artery measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007716	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	564373	\N	\N	EFO	2	EFO	information entity	carotid artery measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007716	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	1145552	\N	\N	EFO	3	EFO	experimental factor	carotid artery measurement
EFO:0007717	\N	\N	"Quantification of some aspect of the carotid artery geometry" []	EFO:0007717	"Quantification of some aspect of the carotid artery geometry" []	68956	\N	\N	EFO	0	EFO	carotid artery geometry measurement	carotid artery geometry measurement
EFO:0007716	EFO:0007717	\N	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	EFO:0007717	"Quantification of some aspect of the carotid artery geometry" []	211122	\N	\N	EFO	1	EFO	carotid artery measurement	carotid artery geometry measurement
EFO:0001444	EFO:0007716	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007717	"Quantification of some aspect of the carotid artery geometry" []	564374	\N	\N	EFO	2	EFO	measurement	carotid artery geometry measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007717	"Quantification of some aspect of the carotid artery geometry" []	1145553	\N	\N	EFO	3	EFO	information entity	carotid artery geometry measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007717	"Quantification of some aspect of the carotid artery geometry" []	2028060	\N	\N	EFO	4	EFO	experimental factor	carotid artery geometry measurement
EFO:0007718	\N	\N	"Quantification of the stiffness of the carotid artery" []	EFO:0007718	"Quantification of the stiffness of the carotid artery" []	68957	\N	\N	EFO	0	EFO	carotid artery stiffness measurement	carotid artery stiffness measurement
EFO:0007716	EFO:0007718	\N	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	EFO:0007718	"Quantification of the stiffness of the carotid artery" []	211123	\N	\N	EFO	1	EFO	carotid artery measurement	carotid artery stiffness measurement
EFO:0001444	EFO:0007716	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007718	"Quantification of the stiffness of the carotid artery" []	564375	\N	\N	EFO	2	EFO	measurement	carotid artery stiffness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007718	"Quantification of the stiffness of the carotid artery" []	1145554	\N	\N	EFO	3	EFO	information entity	carotid artery stiffness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007718	"Quantification of the stiffness of the carotid artery" []	2028061	\N	\N	EFO	4	EFO	experimental factor	carotid artery stiffness measurement
EFO:0007719	\N	\N	"Quantification of the external diameter of the carotid artery" []	EFO:0007719	"Quantification of the external diameter of the carotid artery" []	68958	\N	\N	EFO	0	EFO	carotid artery external diameter measurement	carotid artery external diameter measurement
EFO:0007717	EFO:0007719	\N	"Quantification of some aspect of the carotid artery geometry" []	EFO:0007719	"Quantification of the external diameter of the carotid artery" []	211124	\N	\N	EFO	1	EFO	carotid artery geometry measurement	carotid artery external diameter measurement
EFO:0007716	EFO:0007717	\N	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	EFO:0007719	"Quantification of the external diameter of the carotid artery" []	564376	\N	\N	EFO	2	EFO	carotid artery measurement	carotid artery external diameter measurement
EFO:0001444	EFO:0007716	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007719	"Quantification of the external diameter of the carotid artery" []	1145555	\N	\N	EFO	3	EFO	measurement	carotid artery external diameter measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007719	"Quantification of the external diameter of the carotid artery" []	2028062	\N	\N	EFO	4	EFO	information entity	carotid artery external diameter measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007719	"Quantification of the external diameter of the carotid artery" []	3179359	\N	\N	EFO	5	EFO	experimental factor	carotid artery external diameter measurement
EFO:0007720	\N	\N	"Quantification of the internal diameter of the carotid artery" []	EFO:0007720	"Quantification of the internal diameter of the carotid artery" []	68959	\N	\N	EFO	0	EFO	carotid artery internal diameter measurement	carotid artery internal diameter measurement
EFO:0007717	EFO:0007720	\N	"Quantification of some aspect of the carotid artery geometry" []	EFO:0007720	"Quantification of the internal diameter of the carotid artery" []	211125	\N	\N	EFO	1	EFO	carotid artery geometry measurement	carotid artery internal diameter measurement
EFO:0007716	EFO:0007717	\N	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	EFO:0007720	"Quantification of the internal diameter of the carotid artery" []	564377	\N	\N	EFO	2	EFO	carotid artery measurement	carotid artery internal diameter measurement
EFO:0001444	EFO:0007716	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007720	"Quantification of the internal diameter of the carotid artery" []	1145556	\N	\N	EFO	3	EFO	measurement	carotid artery internal diameter measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007720	"Quantification of the internal diameter of the carotid artery" []	2028063	\N	\N	EFO	4	EFO	information entity	carotid artery internal diameter measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007720	"Quantification of the internal diameter of the carotid artery" []	3179360	\N	\N	EFO	5	EFO	experimental factor	carotid artery internal diameter measurement
EFO:0007721	\N	\N	"Quantification of the central pulse pressure in the carotid artery" []	EFO:0007721	"Quantification of the central pulse pressure in the carotid artery" []	68960	\N	\N	EFO	0	EFO	carotid artery central pulse pressure measurement	carotid artery central pulse pressure measurement
EFO:0007716	EFO:0007721	\N	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	EFO:0007721	"Quantification of the central pulse pressure in the carotid artery" []	211126	\N	\N	EFO	1	EFO	carotid artery measurement	carotid artery central pulse pressure measurement
EFO:0001444	EFO:0007716	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007721	"Quantification of the central pulse pressure in the carotid artery" []	564378	\N	\N	EFO	2	EFO	measurement	carotid artery central pulse pressure measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007721	"Quantification of the central pulse pressure in the carotid artery" []	1145557	\N	\N	EFO	3	EFO	information entity	carotid artery central pulse pressure measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007721	"Quantification of the central pulse pressure in the carotid artery" []	2028064	\N	\N	EFO	4	EFO	experimental factor	carotid artery central pulse pressure measurement
EFO:0007722	\N	\N	"Quantification of the area of a cross section of the carotid artery's wall" []	EFO:0007722	"Quantification of the area of a cross section of the carotid artery's wall" []	68961	\N	\N	EFO	0	EFO	carotid artery wall cross sectional area measurement	carotid artery wall cross sectional area measurement
EFO:0007717	EFO:0007722	\N	"Quantification of some aspect of the carotid artery geometry" []	EFO:0007722	"Quantification of the area of a cross section of the carotid artery's wall" []	211127	\N	\N	EFO	1	EFO	carotid artery geometry measurement	carotid artery wall cross sectional area measurement
EFO:0007716	EFO:0007717	\N	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	EFO:0007722	"Quantification of the area of a cross section of the carotid artery's wall" []	564379	\N	\N	EFO	2	EFO	carotid artery measurement	carotid artery wall cross sectional area measurement
EFO:0001444	EFO:0007716	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007722	"Quantification of the area of a cross section of the carotid artery's wall" []	1145558	\N	\N	EFO	3	EFO	measurement	carotid artery wall cross sectional area measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007722	"Quantification of the area of a cross section of the carotid artery's wall" []	2028065	\N	\N	EFO	4	EFO	information entity	carotid artery wall cross sectional area measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007722	"Quantification of the area of a cross section of the carotid artery's wall" []	3179361	\N	\N	EFO	5	EFO	experimental factor	carotid artery wall cross sectional area measurement
EFO:0007723	\N	\N	"Quantification of mean blood pressure in the carotid artery" []	EFO:0007723	"Quantification of mean blood pressure in the carotid artery" []	68962	\N	\N	EFO	0	EFO	carotid artery mean blood pressure measurement	carotid artery mean blood pressure measurement
EFO:0007716	EFO:0007723	\N	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	EFO:0007723	"Quantification of mean blood pressure in the carotid artery" []	211128	\N	\N	EFO	1	EFO	carotid artery measurement	carotid artery mean blood pressure measurement
EFO:0001444	EFO:0007716	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007723	"Quantification of mean blood pressure in the carotid artery" []	564380	\N	\N	EFO	2	EFO	measurement	carotid artery mean blood pressure measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007723	"Quantification of mean blood pressure in the carotid artery" []	1145559	\N	\N	EFO	3	EFO	information entity	carotid artery mean blood pressure measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007723	"Quantification of mean blood pressure in the carotid artery" []	2028066	\N	\N	EFO	4	EFO	experimental factor	carotid artery mean blood pressure measurement
EFO:0007724	\N	\N	"Quantification of the circumferential wall stress of the carotid artery, an indicator for carotid artery stiffness" []	EFO:0007724	"Quantification of the circumferential wall stress of the carotid artery, an indicator for carotid artery stiffness" []	68963	\N	\N	EFO	0	EFO	carotid artery circumferential wall stress measurement	carotid artery circumferential wall stress measurement
EFO:0007716	EFO:0007724	\N	"Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness" []	EFO:0007724	"Quantification of the circumferential wall stress of the carotid artery, an indicator for carotid artery stiffness" []	211129	\N	\N	EFO	1	EFO	carotid artery measurement	carotid artery circumferential wall stress measurement
EFO:0001444	EFO:0007716	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007724	"Quantification of the circumferential wall stress of the carotid artery, an indicator for carotid artery stiffness" []	564381	\N	\N	EFO	2	EFO	measurement	carotid artery circumferential wall stress measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007724	"Quantification of the circumferential wall stress of the carotid artery, an indicator for carotid artery stiffness" []	1145560	\N	\N	EFO	3	EFO	information entity	carotid artery circumferential wall stress measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007724	"Quantification of the circumferential wall stress of the carotid artery, an indicator for carotid artery stiffness" []	2028067	\N	\N	EFO	4	EFO	experimental factor	carotid artery circumferential wall stress measurement
EFO:0007725	\N	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	EFO:0007725	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	68964	\N	\N	EFO	0	EFO	embryo stage	embryo stage
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	EFO:0007725	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	211130	\N	\N	EFO	1	EFO	developmental stage	embryo stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007725	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	564382	\N	\N	EFO	2	EFO	process	embryo stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007725	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	1145561	\N	\N	EFO	3	EFO	experimental factor	embryo stage
EFO:0007726	\N	\N	"Originally inbred at the Rockefeller Institute, AKR mice are widely used in cancer research for their high leukemia incidence (60-90%) and in immunology as a source of the Thy1.1 (theta AKR) antigen. AKR/J mice are viremic from birth, and express the ecotropic retrovirus AKV in all tissues. The hair interior defect (hid) mutation, a strain characteristic of AKR mice, causes alterations in hair development that is only evident microscopically. Adrenocortical lipid depletion (ald) in AKR mice is caused by a mutation in sterol O-acyltransferase 1 (Soat1), and leads to a truncated SOAT1 protein. AKR/J mice are relatively resistant to aortic lesion formation on a semi-synthetic high fat diet and are hyporesponsive to diets containing high levels of fat and cholesterol." []	EFO:0007726	"Originally inbred at the Rockefeller Institute, AKR mice are widely used in cancer research for their high leukemia incidence (60-90%) and in immunology as a source of the Thy1.1 (theta AKR) antigen. AKR/J mice are viremic from birth, and express the ecotropic retrovirus AKV in all tissues. The hair interior defect (hid) mutation, a strain characteristic of AKR mice, causes alterations in hair development that is only evident microscopically. Adrenocortical lipid depletion (ald) in AKR mice is caused by a mutation in sterol O-acyltransferase 1 (Soat1), and leads to a truncated SOAT1 protein. AKR/J mice are relatively resistant to aortic lesion formation on a semi-synthetic high fat diet and are hyporesponsive to diets containing high levels of fat and cholesterol." []	68965	\N	\N	EFO	0	EFO	AKR/J	AKR/J
NCBITaxon:10090	\N	\N	"" []	EFO:0007726	"Originally inbred at the Rockefeller Institute, AKR mice are widely used in cancer research for their high leukemia incidence (60-90%) and in immunology as a source of the Thy1.1 (theta AKR) antigen. AKR/J mice are viremic from birth, and express the ecotropic retrovirus AKV in all tissues. The hair interior defect (hid) mutation, a strain characteristic of AKR mice, causes alterations in hair development that is only evident microscopically. Adrenocortical lipid depletion (ald) in AKR mice is caused by a mutation in sterol O-acyltransferase 1 (Soat1), and leads to a truncated SOAT1 protein. AKR/J mice are relatively resistant to aortic lesion formation on a semi-synthetic high fat diet and are hyporesponsive to diets containing high levels of fat and cholesterol." []	194889	\N	\N	EFO	0	EFO	Mus musculus	AKR/J
EFO:0007727	\N	\N	"\\n\\nBoth CAST/EiJ and CASA/RkJ (Stock No. 000735) were derived from wild mice trapped in Thailand. CAST is often combined with the common laboratory strains to generate F1 hybrids with high levels of heterozygosity for use in genetic mapping. Unlike the wild-derived strain SPRET, male F1 mice from a CAST cross are fertile.\\n\\nLike CASA, CAST is resistant to flavivirus infection. The flavivirus family includes pathogens responsible for dengue, yellow fever and several forms of encephalitis. Most common laboratory mice are sensitive to flavivirus infection. Resistance/sensitivity is conferred through the oligoA synthase Oas1b locus. In a comparison of multiple strains, CASA and CAST exhibit reduced numbers of retinal ganglion cells as compared to common laboratory strains and other wild-derived strains. In a 2015 study comparing CAST/Ei and the other Collaborative Cross inbred strains (A/J, C3H/HeJ, C57BL/6J, DBA/2J, 129S1/SvImJ, NOD/LtJ, NZO/HlLtJ, and WSB/EiJ), dorsal root ganglion neurons from CAST/Ei mice demonstrate a significantly improved ability to regenerate axons in an inhibitory environment as determined by an increase in number of neurons with neurites and longer axonal process per neuron under both naive and pre-injured conditions. In addition, as compared to neurons from C57BL/6 mice, CAST/Ei neurons exhibit more extensive axonal regeneration in the spinal cord and optic nerve following injury and show greater sprouting following ischemic stroke.\\n\\nWild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research.\\n" []	EFO:0007727	"\\n\\nBoth CAST/EiJ and CASA/RkJ (Stock No. 000735) were derived from wild mice trapped in Thailand. CAST is often combined with the common laboratory strains to generate F1 hybrids with high levels of heterozygosity for use in genetic mapping. Unlike the wild-derived strain SPRET, male F1 mice from a CAST cross are fertile.\\n\\nLike CASA, CAST is resistant to flavivirus infection. The flavivirus family includes pathogens responsible for dengue, yellow fever and several forms of encephalitis. Most common laboratory mice are sensitive to flavivirus infection. Resistance/sensitivity is conferred through the oligoA synthase Oas1b locus. In a comparison of multiple strains, CASA and CAST exhibit reduced numbers of retinal ganglion cells as compared to common laboratory strains and other wild-derived strains. In a 2015 study comparing CAST/Ei and the other Collaborative Cross inbred strains (A/J, C3H/HeJ, C57BL/6J, DBA/2J, 129S1/SvImJ, NOD/LtJ, NZO/HlLtJ, and WSB/EiJ), dorsal root ganglion neurons from CAST/Ei mice demonstrate a significantly improved ability to regenerate axons in an inhibitory environment as determined by an increase in number of neurons with neurites and longer axonal process per neuron under both naive and pre-injured conditions. In addition, as compared to neurons from C57BL/6 mice, CAST/Ei neurons exhibit more extensive axonal regeneration in the spinal cord and optic nerve following injury and show greater sprouting following ischemic stroke.\\n\\nWild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research.\\n" []	68966	\N	\N	EFO	0	EFO	CAST/EiJ	CAST/EiJ
NCBITaxon:10090	\N	\N	"" []	EFO:0007727	"\\n\\nBoth CAST/EiJ and CASA/RkJ (Stock No. 000735) were derived from wild mice trapped in Thailand. CAST is often combined with the common laboratory strains to generate F1 hybrids with high levels of heterozygosity for use in genetic mapping. Unlike the wild-derived strain SPRET, male F1 mice from a CAST cross are fertile.\\n\\nLike CASA, CAST is resistant to flavivirus infection. The flavivirus family includes pathogens responsible for dengue, yellow fever and several forms of encephalitis. Most common laboratory mice are sensitive to flavivirus infection. Resistance/sensitivity is conferred through the oligoA synthase Oas1b locus. In a comparison of multiple strains, CASA and CAST exhibit reduced numbers of retinal ganglion cells as compared to common laboratory strains and other wild-derived strains. In a 2015 study comparing CAST/Ei and the other Collaborative Cross inbred strains (A/J, C3H/HeJ, C57BL/6J, DBA/2J, 129S1/SvImJ, NOD/LtJ, NZO/HlLtJ, and WSB/EiJ), dorsal root ganglion neurons from CAST/Ei mice demonstrate a significantly improved ability to regenerate axons in an inhibitory environment as determined by an increase in number of neurons with neurites and longer axonal process per neuron under both naive and pre-injured conditions. In addition, as compared to neurons from C57BL/6 mice, CAST/Ei neurons exhibit more extensive axonal regeneration in the spinal cord and optic nerve following injury and show greater sprouting following ischemic stroke.\\n\\nWild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research.\\n" []	194890	\N	\N	EFO	0	EFO	Mus musculus	CAST/EiJ
EFO:0007728	\N	\N	"FVB/NJ was inbred for the Fv1b allele which confers sensitivity to the Friend leukemia virus B strain. Due to the prominent pronuclei in their fertilized eggs and the large litter size, FVB/NJ mice are commonly used for transgenic injection. Compared to many other inbred strains, FVB/NJ is highly susceptible to asthma-like airway responsiveness with significant generation of antigen-specific IgE. Despite having the H2q MHC haplotype, FVB/NJ are resistant to collagen-induced arthritis. This resistance stems from coding polymorphisms in Tcra-V11.1 and a genomic deletion of some Tcrb-V genes that includes Tcrb-V8.2. FVB/NJ have higher than average activity, anxiety, and basal body temperature, low stress-induced hyperthermia, and are homozygous for the Pde6brd1 allele, which results in early onset retinal degeneration. Although FVB/N typically do not develop spontaneous tumors, they are highly susceptible to chemically induced squamous cell carcinomas with a high rate of malignant conversion from papilloma to carcinoma. " []	EFO:0007728	"FVB/NJ was inbred for the Fv1b allele which confers sensitivity to the Friend leukemia virus B strain. Due to the prominent pronuclei in their fertilized eggs and the large litter size, FVB/NJ mice are commonly used for transgenic injection. Compared to many other inbred strains, FVB/NJ is highly susceptible to asthma-like airway responsiveness with significant generation of antigen-specific IgE. Despite having the H2q MHC haplotype, FVB/NJ are resistant to collagen-induced arthritis. This resistance stems from coding polymorphisms in Tcra-V11.1 and a genomic deletion of some Tcrb-V genes that includes Tcrb-V8.2. FVB/NJ have higher than average activity, anxiety, and basal body temperature, low stress-induced hyperthermia, and are homozygous for the Pde6brd1 allele, which results in early onset retinal degeneration. Although FVB/N typically do not develop spontaneous tumors, they are highly susceptible to chemically induced squamous cell carcinomas with a high rate of malignant conversion from papilloma to carcinoma. " []	68967	\N	\N	EFO	0	EFO	FVB/NJ	FVB/NJ
NCBITaxon:10090	\N	\N	"" []	EFO:0007728	"FVB/NJ was inbred for the Fv1b allele which confers sensitivity to the Friend leukemia virus B strain. Due to the prominent pronuclei in their fertilized eggs and the large litter size, FVB/NJ mice are commonly used for transgenic injection. Compared to many other inbred strains, FVB/NJ is highly susceptible to asthma-like airway responsiveness with significant generation of antigen-specific IgE. Despite having the H2q MHC haplotype, FVB/NJ are resistant to collagen-induced arthritis. This resistance stems from coding polymorphisms in Tcra-V11.1 and a genomic deletion of some Tcrb-V genes that includes Tcrb-V8.2. FVB/NJ have higher than average activity, anxiety, and basal body temperature, low stress-induced hyperthermia, and are homozygous for the Pde6brd1 allele, which results in early onset retinal degeneration. Although FVB/N typically do not develop spontaneous tumors, they are highly susceptible to chemically induced squamous cell carcinomas with a high rate of malignant conversion from papilloma to carcinoma. " []	194891	\N	\N	EFO	0	EFO	Mus musculus	FVB/NJ
EFO:0007729	\N	\N	"NZO mice of both sexes exhibit high birth weights and are significantly heavier at weaning age. Severe obesity (including both visceral and subcuatneous fat depots) develops even when mice are maintained on a standard diet containing 4.5% fat. Both males and females of the NZO/Hl substrain exhibit impaired glucose tolerance (IGT), but subsequent type 2 maturity onset (NIDDM) diabetes development is limited to males, with a phenotype penetrance of 50% or less. NZO/Hl mice also show anti-insulin receptor antibodies, a defect in leptin transport, and hypertension. The genetic lesion appears to be within the islets of Langerhans as transfer of pancreatic islets from normal mice returns body weights and blood glucose levels to within normal range. Ovarian granulosa cell tumors, lymphomas, duodenal, and lung tumors have also been noted to occur in NZO mice at an elevated frequency. F1 hybrids of NON/ShiLt and NZO/Hl provide a new model of obesity-induced diabetes. Male (NON/ShiLt x NZO/Hl)F1 hybrids are obese (BW = 53.5 g by 16 weeks) and almost all develop maturity onset NIDDM. F1 males on a 4% diet will develop hyperglycemia around 20 to 24 weeks of age; increasing the fat content of the diet accelerates diabetes onset to 16 to 20 weeks of age. (NZO/Hl x NON/ShiLt)F1 hybrids will develop diabetes slightly faster than their reciprocal cross due to the NZO maternal environment; however this cross is difficult to produce due to the inherently poor breeding performance of NZO/HlJ female mice. F1 females exhibit a weight gain similar to the NZO parent, and have impaired glucose tolerance but are resistant to diabetes development. Diabetes development can be accelerated to eight to 12 weeks by fostering onto an F1 dam. Reciprocal backcrosses to the parental strains and analysis of (NON/ShiLt x NZO/Hl)F2 mice has led to the identification of a number of complex diabetes-predisposing (\\"diabesity\\") QTLs. Dr. Leiter's research group at The Jackson Laboratory is currently developing a series of nine recombinant congenic strains (RCS) made by backcrossing the (NZO/Hl x NON/ShiLt)F1 for two generations onto the NON/ShiLt background before inbreeding (~12% NZO/Hl, 88% NON/ShiLt genomes). Preliminary analysis indicates that body weight gains of all RCS are higher than NON/ShiLt, but none are as obese as NZO/Hl; some of these RCS develop NIDDM while others are resistant. These new strains will be useful to further analyze diabesity QTLs and as new models for type 2 (NIDDM) diabetes. An additional benefit of the RCS is better breeding performance than NZO/Hl." []	EFO:0007729	"NZO mice of both sexes exhibit high birth weights and are significantly heavier at weaning age. Severe obesity (including both visceral and subcuatneous fat depots) develops even when mice are maintained on a standard diet containing 4.5% fat. Both males and females of the NZO/Hl substrain exhibit impaired glucose tolerance (IGT), but subsequent type 2 maturity onset (NIDDM) diabetes development is limited to males, with a phenotype penetrance of 50% or less. NZO/Hl mice also show anti-insulin receptor antibodies, a defect in leptin transport, and hypertension. The genetic lesion appears to be within the islets of Langerhans as transfer of pancreatic islets from normal mice returns body weights and blood glucose levels to within normal range. Ovarian granulosa cell tumors, lymphomas, duodenal, and lung tumors have also been noted to occur in NZO mice at an elevated frequency. F1 hybrids of NON/ShiLt and NZO/Hl provide a new model of obesity-induced diabetes. Male (NON/ShiLt x NZO/Hl)F1 hybrids are obese (BW = 53.5 g by 16 weeks) and almost all develop maturity onset NIDDM. F1 males on a 4% diet will develop hyperglycemia around 20 to 24 weeks of age; increasing the fat content of the diet accelerates diabetes onset to 16 to 20 weeks of age. (NZO/Hl x NON/ShiLt)F1 hybrids will develop diabetes slightly faster than their reciprocal cross due to the NZO maternal environment; however this cross is difficult to produce due to the inherently poor breeding performance of NZO/HlJ female mice. F1 females exhibit a weight gain similar to the NZO parent, and have impaired glucose tolerance but are resistant to diabetes development. Diabetes development can be accelerated to eight to 12 weeks by fostering onto an F1 dam. Reciprocal backcrosses to the parental strains and analysis of (NON/ShiLt x NZO/Hl)F2 mice has led to the identification of a number of complex diabetes-predisposing (\\"diabesity\\") QTLs. Dr. Leiter's research group at The Jackson Laboratory is currently developing a series of nine recombinant congenic strains (RCS) made by backcrossing the (NZO/Hl x NON/ShiLt)F1 for two generations onto the NON/ShiLt background before inbreeding (~12% NZO/Hl, 88% NON/ShiLt genomes). Preliminary analysis indicates that body weight gains of all RCS are higher than NON/ShiLt, but none are as obese as NZO/Hl; some of these RCS develop NIDDM while others are resistant. These new strains will be useful to further analyze diabesity QTLs and as new models for type 2 (NIDDM) diabetes. An additional benefit of the RCS is better breeding performance than NZO/Hl." []	68968	\N	\N	EFO	0	EFO	NZO/HlLtJ	NZO/HlLtJ
NCBITaxon:10090	\N	\N	"" []	EFO:0007729	"NZO mice of both sexes exhibit high birth weights and are significantly heavier at weaning age. Severe obesity (including both visceral and subcuatneous fat depots) develops even when mice are maintained on a standard diet containing 4.5% fat. Both males and females of the NZO/Hl substrain exhibit impaired glucose tolerance (IGT), but subsequent type 2 maturity onset (NIDDM) diabetes development is limited to males, with a phenotype penetrance of 50% or less. NZO/Hl mice also show anti-insulin receptor antibodies, a defect in leptin transport, and hypertension. The genetic lesion appears to be within the islets of Langerhans as transfer of pancreatic islets from normal mice returns body weights and blood glucose levels to within normal range. Ovarian granulosa cell tumors, lymphomas, duodenal, and lung tumors have also been noted to occur in NZO mice at an elevated frequency. F1 hybrids of NON/ShiLt and NZO/Hl provide a new model of obesity-induced diabetes. Male (NON/ShiLt x NZO/Hl)F1 hybrids are obese (BW = 53.5 g by 16 weeks) and almost all develop maturity onset NIDDM. F1 males on a 4% diet will develop hyperglycemia around 20 to 24 weeks of age; increasing the fat content of the diet accelerates diabetes onset to 16 to 20 weeks of age. (NZO/Hl x NON/ShiLt)F1 hybrids will develop diabetes slightly faster than their reciprocal cross due to the NZO maternal environment; however this cross is difficult to produce due to the inherently poor breeding performance of NZO/HlJ female mice. F1 females exhibit a weight gain similar to the NZO parent, and have impaired glucose tolerance but are resistant to diabetes development. Diabetes development can be accelerated to eight to 12 weeks by fostering onto an F1 dam. Reciprocal backcrosses to the parental strains and analysis of (NON/ShiLt x NZO/Hl)F2 mice has led to the identification of a number of complex diabetes-predisposing (\\"diabesity\\") QTLs. Dr. Leiter's research group at The Jackson Laboratory is currently developing a series of nine recombinant congenic strains (RCS) made by backcrossing the (NZO/Hl x NON/ShiLt)F1 for two generations onto the NON/ShiLt background before inbreeding (~12% NZO/Hl, 88% NON/ShiLt genomes). Preliminary analysis indicates that body weight gains of all RCS are higher than NON/ShiLt, but none are as obese as NZO/Hl; some of these RCS develop NIDDM while others are resistant. These new strains will be useful to further analyze diabesity QTLs and as new models for type 2 (NIDDM) diabetes. An additional benefit of the RCS is better breeding performance than NZO/Hl." []	194892	\N	\N	EFO	0	EFO	Mus musculus	NZO/HlLtJ
EFO:0007730	\N	\N	"PWK was derived from wild mice trapped near Prague, Czech Republic. PWK has a biochemical profile that is similar to the inbred strain PWD (also originating from the Czech Republic - Stock No. 004660) with the exception of the isoenzyme variant esterase 13 (Es13b). Wild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research." []	EFO:0007730	"PWK was derived from wild mice trapped near Prague, Czech Republic. PWK has a biochemical profile that is similar to the inbred strain PWD (also originating from the Czech Republic - Stock No. 004660) with the exception of the isoenzyme variant esterase 13 (Es13b). Wild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research." []	68969	\N	\N	EFO	0	EFO	PWK/PhJ	PWK/PhJ
NCBITaxon:10090	\N	\N	"" []	EFO:0007730	"PWK was derived from wild mice trapped near Prague, Czech Republic. PWK has a biochemical profile that is similar to the inbred strain PWD (also originating from the Czech Republic - Stock No. 004660) with the exception of the isoenzyme variant esterase 13 (Es13b). Wild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research." []	194893	\N	\N	EFO	0	EFO	Mus musculus	PWK/PhJ
EFO:0007731	\N	\N	"Watkins Star Line B (WSB) was derived from wild mice trapped in Eastern Shore, Maryland. WSB is characterized by a distinct and consistent white head blaze, variable ventral spotting and a slight coat dilution on the agouti background. The variation in pigment is the result of the spontaneous mutation blaze (Kitlblz).Wild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research." []	EFO:0007731	"Watkins Star Line B (WSB) was derived from wild mice trapped in Eastern Shore, Maryland. WSB is characterized by a distinct and consistent white head blaze, variable ventral spotting and a slight coat dilution on the agouti background. The variation in pigment is the result of the spontaneous mutation blaze (Kitlblz).Wild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research." []	68970	\N	\N	EFO	0	EFO	WSB/EiJ	WSB/EiJ
NCBITaxon:10090	\N	\N	"" []	EFO:0007731	"Watkins Star Line B (WSB) was derived from wild mice trapped in Eastern Shore, Maryland. WSB is characterized by a distinct and consistent white head blaze, variable ventral spotting and a slight coat dilution on the agouti background. The variation in pigment is the result of the spontaneous mutation blaze (Kitlblz).Wild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research." []	194894	\N	\N	EFO	0	EFO	Mus musculus	WSB/EiJ
EFO:0007732	\N	\N	"This is an NIH subline of C57BL/6. It was separated from C57BL/6J in 1951. 5 SNP differences have been identified that distinguish C57BL/6J from C57BL/6ByJ and C57BL/6NJ. Both C57BL/6ByJ and C57BL/6NJ type as follows: 08-015199792-M (rs3709624) is C; 11-004367508-M (rs3659787) is A; 13-041017317-M (rs3722313) is C; 15-057561875-M (rs3702158) is G; 19-049914266-M (rs3724876) is T. C57BL/6J types as follows: 08-015199792-M is T; 11-004367508-M is G; 13-041017317-M is T; 15-057561875-M is A; 19-049914266-M is G (Petkov and Wiles 2005.) This strain does not have the deletion in the Nnt gene that has been found in the C57BL/6J strain (Stock No. 000664). C57BL/6NJ mice are homozygous for Cyfip2M1N, a spontaneous mutation in the cytoplasmic FMR1 interacting protein 2 that results in an amino acid substitution of phenylalanine for serine at position 968 (S968F). The mutation is found in all C57BL/6N substrains but is not present in the C57BL/6J strain or substrains. The mutation results in 45% lower acute response to cocaine as measured by locomotor hyperactivity." []	EFO:0007732	"This is an NIH subline of C57BL/6. It was separated from C57BL/6J in 1951. 5 SNP differences have been identified that distinguish C57BL/6J from C57BL/6ByJ and C57BL/6NJ. Both C57BL/6ByJ and C57BL/6NJ type as follows: 08-015199792-M (rs3709624) is C; 11-004367508-M (rs3659787) is A; 13-041017317-M (rs3722313) is C; 15-057561875-M (rs3702158) is G; 19-049914266-M (rs3724876) is T. C57BL/6J types as follows: 08-015199792-M is T; 11-004367508-M is G; 13-041017317-M is T; 15-057561875-M is A; 19-049914266-M is G (Petkov and Wiles 2005.) This strain does not have the deletion in the Nnt gene that has been found in the C57BL/6J strain (Stock No. 000664). C57BL/6NJ mice are homozygous for Cyfip2M1N, a spontaneous mutation in the cytoplasmic FMR1 interacting protein 2 that results in an amino acid substitution of phenylalanine for serine at position 968 (S968F). The mutation is found in all C57BL/6N substrains but is not present in the C57BL/6J strain or substrains. The mutation results in 45% lower acute response to cocaine as measured by locomotor hyperactivity." []	68971	\N	\N	EFO	0	EFO	C57BL/6NJ	C57BL/6NJ
EFO:0005181	EFO:0007732	\N	"An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology." []	EFO:0007732	"This is an NIH subline of C57BL/6. It was separated from C57BL/6J in 1951. 5 SNP differences have been identified that distinguish C57BL/6J from C57BL/6ByJ and C57BL/6NJ. Both C57BL/6ByJ and C57BL/6NJ type as follows: 08-015199792-M (rs3709624) is C; 11-004367508-M (rs3659787) is A; 13-041017317-M (rs3722313) is C; 15-057561875-M (rs3702158) is G; 19-049914266-M (rs3724876) is T. C57BL/6J types as follows: 08-015199792-M is T; 11-004367508-M is G; 13-041017317-M is T; 15-057561875-M is A; 19-049914266-M is G (Petkov and Wiles 2005.) This strain does not have the deletion in the Nnt gene that has been found in the C57BL/6J strain (Stock No. 000664). C57BL/6NJ mice are homozygous for Cyfip2M1N, a spontaneous mutation in the cytoplasmic FMR1 interacting protein 2 that results in an amino acid substitution of phenylalanine for serine at position 968 (S968F). The mutation is found in all C57BL/6N substrains but is not present in the C57BL/6J strain or substrains. The mutation results in 45% lower acute response to cocaine as measured by locomotor hyperactivity." []	211131	\N	\N	EFO	1	EFO	C57BL	C57BL/6NJ
EFO:0007733	\N	\N	"LP/J mice display a high susceptibility to audiogenic seizures. This strain is also reported to have a fairly high incidence of tumors that develop later in life, including mammary tumors, lymphoma, lung and soft-tissue sarcomas. LP/J mice are also homozygous for the spontaneous mutation piebald in the endothelin receptor type B gene (Ednrbs). The piebald spontaneous mutation is the result of a mutation in the endothelin receptor type B gene, Ednrb. Mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. They also have dark eyes. The white areas of the coat are completely lacking in neural crest-derived melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye." []	EFO:0007733	"LP/J mice display a high susceptibility to audiogenic seizures. This strain is also reported to have a fairly high incidence of tumors that develop later in life, including mammary tumors, lymphoma, lung and soft-tissue sarcomas. LP/J mice are also homozygous for the spontaneous mutation piebald in the endothelin receptor type B gene (Ednrbs). The piebald spontaneous mutation is the result of a mutation in the endothelin receptor type B gene, Ednrb. Mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. They also have dark eyes. The white areas of the coat are completely lacking in neural crest-derived melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye." []	68972	\N	\N	EFO	0	EFO	LP/J	LP/J
NCBITaxon:10090	\N	\N	"" []	EFO:0007733	"LP/J mice display a high susceptibility to audiogenic seizures. This strain is also reported to have a fairly high incidence of tumors that develop later in life, including mammary tumors, lymphoma, lung and soft-tissue sarcomas. LP/J mice are also homozygous for the spontaneous mutation piebald in the endothelin receptor type B gene (Ednrbs). The piebald spontaneous mutation is the result of a mutation in the endothelin receptor type B gene, Ednrb. Mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. They also have dark eyes. The white areas of the coat are completely lacking in neural crest-derived melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye." []	194895	\N	\N	EFO	0	EFO	Mus musculus	LP/J
EFO:0007734	\N	\N	"The wild-derived inbred strain SPRET/Ei is often used in crosses with common inbred strains to create highly polymorphic panels for genetic mapping. SPRET/Ei mice are resistant to high doses of tumor necrosis factor alpha (TNFa) (Staelens et al 2002). Mice from a C57BL/6 x SPRET/Ei F1 cross were protected from TNFa-induced arthritis and partially protected against induced allergic asthma (Staelens et al 2004). SPRET/Ei may be useful in understanding certain inflammatory diseases." []	EFO:0007734	"The wild-derived inbred strain SPRET/Ei is often used in crosses with common inbred strains to create highly polymorphic panels for genetic mapping. SPRET/Ei mice are resistant to high doses of tumor necrosis factor alpha (TNFa) (Staelens et al 2002). Mice from a C57BL/6 x SPRET/Ei F1 cross were protected from TNFa-induced arthritis and partially protected against induced allergic asthma (Staelens et al 2004). SPRET/Ei may be useful in understanding certain inflammatory diseases." []	68973	\N	\N	EFO	0	EFO	SPRET/EiJ	SPRET/EiJ
NCBITaxon:10090	\N	\N	"" []	EFO:0007734	"The wild-derived inbred strain SPRET/Ei is often used in crosses with common inbred strains to create highly polymorphic panels for genetic mapping. SPRET/Ei mice are resistant to high doses of tumor necrosis factor alpha (TNFa) (Staelens et al 2002). Mice from a C57BL/6 x SPRET/Ei F1 cross were protected from TNFa-induced arthritis and partially protected against induced allergic asthma (Staelens et al 2004). SPRET/Ei may be useful in understanding certain inflammatory diseases." []	194896	\N	\N	EFO	0	EFO	Mus musculus	SPRET/EiJ
EFO:0007735	\N	\N	"CBA/J inbred mice are widely used as a general purpose strain. CBA/J strain is the only CBA substrain that carries the Pde6brd1 mutation, which causes blindness by wean age. CBA/J mice are not histocompatible with the CBA/CaJ (Stock No. 000654) substrain (Green and Kaufer, 1965).\\n\\nThe CBA/J inbred mouse strain is used to study granulomatous experimental autoimmune thyroiditis (G-EAT), are relatively resistant to diet-induced atherosclerosis (Paigen et al. 1990), and develop a mild hearing loss late in life, with most of the hearing loss occurring in the higher frequencies (Sweet et al. 1988). Renal tubulointerstitial lesions have been observed in this strain at a high frequency (Rudofsky 1978). Some CBA/J mice spontaneously develop exocrine pancreatic insufficiency syndrome (Eppig and Leiter 1977, Leiter et al. 1977).\\n" []	EFO:0007735	"CBA/J inbred mice are widely used as a general purpose strain. CBA/J strain is the only CBA substrain that carries the Pde6brd1 mutation, which causes blindness by wean age. CBA/J mice are not histocompatible with the CBA/CaJ (Stock No. 000654) substrain (Green and Kaufer, 1965).\\n\\nThe CBA/J inbred mouse strain is used to study granulomatous experimental autoimmune thyroiditis (G-EAT), are relatively resistant to diet-induced atherosclerosis (Paigen et al. 1990), and develop a mild hearing loss late in life, with most of the hearing loss occurring in the higher frequencies (Sweet et al. 1988). Renal tubulointerstitial lesions have been observed in this strain at a high frequency (Rudofsky 1978). Some CBA/J mice spontaneously develop exocrine pancreatic insufficiency syndrome (Eppig and Leiter 1977, Leiter et al. 1977).\\n" []	68974	\N	\N	EFO	0	EFO	CBA/J	CBA/J
NCBITaxon:10090	\N	\N	"" []	EFO:0007735	"CBA/J inbred mice are widely used as a general purpose strain. CBA/J strain is the only CBA substrain that carries the Pde6brd1 mutation, which causes blindness by wean age. CBA/J mice are not histocompatible with the CBA/CaJ (Stock No. 000654) substrain (Green and Kaufer, 1965).\\n\\nThe CBA/J inbred mouse strain is used to study granulomatous experimental autoimmune thyroiditis (G-EAT), are relatively resistant to diet-induced atherosclerosis (Paigen et al. 1990), and develop a mild hearing loss late in life, with most of the hearing loss occurring in the higher frequencies (Sweet et al. 1988). Renal tubulointerstitial lesions have been observed in this strain at a high frequency (Rudofsky 1978). Some CBA/J mice spontaneously develop exocrine pancreatic insufficiency syndrome (Eppig and Leiter 1977, Leiter et al. 1977).\\n" []	194897	\N	\N	EFO	0	EFO	Mus musculus	CBA/J
EFO:0007736	\N	\N	"Diabetes in NOD/ShiLtJ mice is characterized by insulitis, a leukocytic infiltrate of the pancreatic islets. Marked decreases in pancreatic insulin content occur in females at about 12 weeks of age and several weeks later in males. Onset of diabetes is marked by moderate glycosuria and by a non-fasting plasma glucose higher than 250 mg/dl. Diabetic mice are hypoinsulinemic and hyperglucagonemic, indicating a selective destruction of pancreatic islet beta cells. Susceptibility to IDDM in NOD/ShiLtJ mice is polygenic, and environment, including housing conditions, health status, and diet, exerts a strong effect on penetrance. NOD/ShiLtJ females are more widely used than males because the onset of IDDM symptoms occurs earlier and with a higher incidence (90-100% by 30 weeks of age). NOD/ShiLtJ males develop IDDM at a frequency of between 40-60% by 30-40 weeks of age. Male mice are useful for certain applications, including pharmaceutical studies, \\"accelerated transfer\\" of IDDM, and some in vitro studies. The major component of diabetes susceptibility in NOD mice is the unique MHC haplotype (H2g7 = Kd, Aad, Abg7, Enull, Db). NOD mice also exhibit multiple aberrant immunophenotypes including defective antigen presenting cell immunoregulatory functions, defects in the regulation of theT lymphocyte repertoire, defective NK cell function, defective cytokine production from macrophages (Fan et al., 2004) and impaired wound healing. They also lack hemolytic complement, C5. NOD/ShiLtJ mice also are severely hearing-impaired. A variety of mutations causing immunodeficiencies, targeted mutations in cytokine genes, as well as transgenes affecting immune functions, have been backcrossed into the NOD/ShiLt inbred strain background.\\n\\nDiabetes onset was monitored weekly between the ages of 3 and 30 weeks in 120 male and 120 female NOD/ShiLtJ bred in the Bar Harbor and Sacramento facilities. Mice were fed a 6% fat diet (LabDiet 5K0Q, St. Louis MO), ad libitum. Diabetes was defined by a non-fasting blood glucose level exceeding 250 mg/dL. Blood was sampled from the submandibular route and analyzed using a OneTouch Ultra 2 handheld glucometer that was validated using a control solution on each measurement day. Data were combined from three independent studies, each involving 40 males and 40 females. The median female onset was 17 weeks in each study, and the Kaplan-Meier curves from the individual studies did not differ significantly. " []	EFO:0007736	"Diabetes in NOD/ShiLtJ mice is characterized by insulitis, a leukocytic infiltrate of the pancreatic islets. Marked decreases in pancreatic insulin content occur in females at about 12 weeks of age and several weeks later in males. Onset of diabetes is marked by moderate glycosuria and by a non-fasting plasma glucose higher than 250 mg/dl. Diabetic mice are hypoinsulinemic and hyperglucagonemic, indicating a selective destruction of pancreatic islet beta cells. Susceptibility to IDDM in NOD/ShiLtJ mice is polygenic, and environment, including housing conditions, health status, and diet, exerts a strong effect on penetrance. NOD/ShiLtJ females are more widely used than males because the onset of IDDM symptoms occurs earlier and with a higher incidence (90-100% by 30 weeks of age). NOD/ShiLtJ males develop IDDM at a frequency of between 40-60% by 30-40 weeks of age. Male mice are useful for certain applications, including pharmaceutical studies, \\"accelerated transfer\\" of IDDM, and some in vitro studies. The major component of diabetes susceptibility in NOD mice is the unique MHC haplotype (H2g7 = Kd, Aad, Abg7, Enull, Db). NOD mice also exhibit multiple aberrant immunophenotypes including defective antigen presenting cell immunoregulatory functions, defects in the regulation of theT lymphocyte repertoire, defective NK cell function, defective cytokine production from macrophages (Fan et al., 2004) and impaired wound healing. They also lack hemolytic complement, C5. NOD/ShiLtJ mice also are severely hearing-impaired. A variety of mutations causing immunodeficiencies, targeted mutations in cytokine genes, as well as transgenes affecting immune functions, have been backcrossed into the NOD/ShiLt inbred strain background.\\n\\nDiabetes onset was monitored weekly between the ages of 3 and 30 weeks in 120 male and 120 female NOD/ShiLtJ bred in the Bar Harbor and Sacramento facilities. Mice were fed a 6% fat diet (LabDiet 5K0Q, St. Louis MO), ad libitum. Diabetes was defined by a non-fasting blood glucose level exceeding 250 mg/dL. Blood was sampled from the submandibular route and analyzed using a OneTouch Ultra 2 handheld glucometer that was validated using a control solution on each measurement day. Data were combined from three independent studies, each involving 40 males and 40 females. The median female onset was 17 weeks in each study, and the Kaplan-Meier curves from the individual studies did not differ significantly. " []	68975	\N	\N	EFO	0	EFO	NOD/ShiLtJ	NOD/ShiLtJ
EFO:0002547	EFO:0007736	\N	"" []	EFO:0007736	"Diabetes in NOD/ShiLtJ mice is characterized by insulitis, a leukocytic infiltrate of the pancreatic islets. Marked decreases in pancreatic insulin content occur in females at about 12 weeks of age and several weeks later in males. Onset of diabetes is marked by moderate glycosuria and by a non-fasting plasma glucose higher than 250 mg/dl. Diabetic mice are hypoinsulinemic and hyperglucagonemic, indicating a selective destruction of pancreatic islet beta cells. Susceptibility to IDDM in NOD/ShiLtJ mice is polygenic, and environment, including housing conditions, health status, and diet, exerts a strong effect on penetrance. NOD/ShiLtJ females are more widely used than males because the onset of IDDM symptoms occurs earlier and with a higher incidence (90-100% by 30 weeks of age). NOD/ShiLtJ males develop IDDM at a frequency of between 40-60% by 30-40 weeks of age. Male mice are useful for certain applications, including pharmaceutical studies, \\"accelerated transfer\\" of IDDM, and some in vitro studies. The major component of diabetes susceptibility in NOD mice is the unique MHC haplotype (H2g7 = Kd, Aad, Abg7, Enull, Db). NOD mice also exhibit multiple aberrant immunophenotypes including defective antigen presenting cell immunoregulatory functions, defects in the regulation of theT lymphocyte repertoire, defective NK cell function, defective cytokine production from macrophages (Fan et al., 2004) and impaired wound healing. They also lack hemolytic complement, C5. NOD/ShiLtJ mice also are severely hearing-impaired. A variety of mutations causing immunodeficiencies, targeted mutations in cytokine genes, as well as transgenes affecting immune functions, have been backcrossed into the NOD/ShiLt inbred strain background.\\n\\nDiabetes onset was monitored weekly between the ages of 3 and 30 weeks in 120 male and 120 female NOD/ShiLtJ bred in the Bar Harbor and Sacramento facilities. Mice were fed a 6% fat diet (LabDiet 5K0Q, St. Louis MO), ad libitum. Diabetes was defined by a non-fasting blood glucose level exceeding 250 mg/dL. Blood was sampled from the submandibular route and analyzed using a OneTouch Ultra 2 handheld glucometer that was validated using a control solution on each measurement day. Data were combined from three independent studies, each involving 40 males and 40 females. The median female onset was 17 weeks in each study, and the Kaplan-Meier curves from the individual studies did not differ significantly. " []	211132	\N	\N	EFO	1	EFO	NOD mouse	NOD/ShiLtJ
EFO:0007737	\N	\N	"Adiponection measurement that has been adjusted by subjects body mass index by performing linear regressions for adiponectin against BMI " []	EFO:0007737	"Adiponection measurement that has been adjusted by subjects body mass index by performing linear regressions for adiponectin against BMI " []	68976	\N	\N	EFO	0	EFO	BMI-adjusted adiponectin measurement	BMI-adjusted adiponectin measurement
EFO:0004502	EFO:0007737	\N	"Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Low circulating adiponectin concentrations (hypoadiponectinemia; <4 ?g/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), sleep apnea, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer). Hyperadiponectinemia is associated with cardiac, renal and pulmonary diseases." []	EFO:0007737	"Adiponection measurement that has been adjusted by subjects body mass index by performing linear regressions for adiponectin against BMI " []	211133	\N	\N	EFO	1	EFO	adiponectin measurement	BMI-adjusted adiponectin measurement
EFO:0004730	EFO:0004502	\N	"" []	EFO:0007737	"Adiponection measurement that has been adjusted by subjects body mass index by performing linear regressions for adiponectin against BMI " []	564383	\N	\N	EFO	2	EFO	hormone measurement	BMI-adjusted adiponectin measurement
EFO:0004747	EFO:0004502	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007737	"Adiponection measurement that has been adjusted by subjects body mass index by performing linear regressions for adiponectin against BMI " []	564384	\N	\N	EFO	2	EFO	protein measurement	BMI-adjusted adiponectin measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007737	"Adiponection measurement that has been adjusted by subjects body mass index by performing linear regressions for adiponectin against BMI " []	1145562	\N	\N	EFO	3	EFO	measurement	BMI-adjusted adiponectin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007737	"Adiponection measurement that has been adjusted by subjects body mass index by performing linear regressions for adiponectin against BMI " []	1145563	\N	\N	EFO	3	EFO	measurement	BMI-adjusted adiponectin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007737	"Adiponection measurement that has been adjusted by subjects body mass index by performing linear regressions for adiponectin against BMI " []	2028068	\N	\N	EFO	4	EFO	information entity	BMI-adjusted adiponectin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007737	"Adiponection measurement that has been adjusted by subjects body mass index by performing linear regressions for adiponectin against BMI " []	3179362	\N	\N	EFO	5	EFO	experimental factor	BMI-adjusted adiponectin measurement
EFO:0007738	\N	\N	"quantification of some aspect of the cingulate cortex, a part of the brain situated in the medial aspect of the cerebral cortex" []	EFO:0007738	"quantification of some aspect of the cingulate cortex, a part of the brain situated in the medial aspect of the cerebral cortex" []	68977	\N	\N	EFO	0	EFO	cingulate cortex measurement	cingulate cortex measurement
EFO:0004464	EFO:0007738	\N	"" []	EFO:0007738	"quantification of some aspect of the cingulate cortex, a part of the brain situated in the medial aspect of the cerebral cortex" []	211134	\N	\N	EFO	1	EFO	brain measurement	cingulate cortex measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007738	"quantification of some aspect of the cingulate cortex, a part of the brain situated in the medial aspect of the cerebral cortex" []	564385	\N	\N	EFO	2	EFO	measurement	cingulate cortex measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007738	"quantification of some aspect of the cingulate cortex, a part of the brain situated in the medial aspect of the cerebral cortex" []	1145564	\N	\N	EFO	3	EFO	information entity	cingulate cortex measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007738	"quantification of some aspect of the cingulate cortex, a part of the brain situated in the medial aspect of the cerebral cortex" []	2028069	\N	\N	EFO	4	EFO	experimental factor	cingulate cortex measurement
EFO:0007739	\N	\N	"quantification of the thickness of the grey matter in the left superior temporal gyrus" []	EFO:0007739	"quantification of the thickness of the grey matter in the left superior temporal gyrus" []	68978	\N	\N	EFO	0	EFO	left superior temporal gyrus thickness measurement	left superior temporal gyrus thickness measurement
EFO:0004840	EFO:0007739	\N	"Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease and other neurological conditions" []	EFO:0007739	"quantification of the thickness of the grey matter in the left superior temporal gyrus" []	211135	\N	\N	EFO	1	EFO	cortical thickness	left superior temporal gyrus thickness measurement
EFO:0004464	EFO:0004840	\N	"" []	EFO:0007739	"quantification of the thickness of the grey matter in the left superior temporal gyrus" []	564386	\N	\N	EFO	2	EFO	brain measurement	left superior temporal gyrus thickness measurement
EFO:0006514	EFO:0004840	\N	"Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients" []	EFO:0007739	"quantification of the thickness of the grey matter in the left superior temporal gyrus" []	564387	\N	\N	EFO	2	EFO	Alzheimer's disease biomarker measurement	left superior temporal gyrus thickness measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007739	"quantification of the thickness of the grey matter in the left superior temporal gyrus" []	1145565	\N	\N	EFO	3	EFO	measurement	left superior temporal gyrus thickness measurement
EFO:0001444	EFO:0006514	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007739	"quantification of the thickness of the grey matter in the left superior temporal gyrus" []	1145566	\N	\N	EFO	3	EFO	measurement	left superior temporal gyrus thickness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007739	"quantification of the thickness of the grey matter in the left superior temporal gyrus" []	2028070	\N	\N	EFO	4	EFO	information entity	left superior temporal gyrus thickness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007739	"quantification of the thickness of the grey matter in the left superior temporal gyrus" []	3179363	\N	\N	EFO	5	EFO	experimental factor	left superior temporal gyrus thickness measurement
EFO:0007740	\N	\N	"The magnitude of the S wave, the downward deflection of the QRS complex following the R wave representing late depolarization of the ventricles as illustrated in an electrocardiograph." []	EFO:0007740	"The magnitude of the S wave, the downward deflection of the QRS complex following the R wave representing late depolarization of the ventricles as illustrated in an electrocardiograph." []	68979	\N	\N	EFO	0	EFO	S wave amplitude	S wave amplitude
EFO:0004327	EFO:0007740	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0007740	"The magnitude of the S wave, the downward deflection of the QRS complex following the R wave representing late depolarization of the ventricles as illustrated in an electrocardiograph." []	211136	\N	\N	EFO	1	EFO	electrocardiography	S wave amplitude
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0007740	"The magnitude of the S wave, the downward deflection of the QRS complex following the R wave representing late depolarization of the ventricles as illustrated in an electrocardiograph." []	564388	\N	\N	EFO	2	EFO	heart function measurement	S wave amplitude
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0007740	"The magnitude of the S wave, the downward deflection of the QRS complex following the R wave representing late depolarization of the ventricles as illustrated in an electrocardiograph." []	1145567	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	S wave amplitude
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0007740	"The magnitude of the S wave, the downward deflection of the QRS complex following the R wave representing late depolarization of the ventricles as illustrated in an electrocardiograph." []	2028071	\N	\N	EFO	4	EFO	cardiovascular measurement	S wave amplitude
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007740	"The magnitude of the S wave, the downward deflection of the QRS complex following the R wave representing late depolarization of the ventricles as illustrated in an electrocardiograph." []	3179364	\N	\N	EFO	5	EFO	measurement	S wave amplitude
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007740	"The magnitude of the S wave, the downward deflection of the QRS complex following the R wave representing late depolarization of the ventricles as illustrated in an electrocardiograph." []	4388734	\N	\N	EFO	6	EFO	information entity	S wave amplitude
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007740	"The magnitude of the S wave, the downward deflection of the QRS complex following the R wave representing late depolarization of the ventricles as illustrated in an electrocardiograph." []	5408969	\N	\N	EFO	7	EFO	experimental factor	S wave amplitude
EFO:0007741	\N	\N	"The magnitude of the R wave, which is the initial upward deflection of the QRS complex following the Q wave representing early depolarization of the ventricles as illustrated by an electrocardiograph. " []	EFO:0007741	"The magnitude of the R wave, which is the initial upward deflection of the QRS complex following the Q wave representing early depolarization of the ventricles as illustrated by an electrocardiograph. " []	68980	\N	\N	EFO	0	EFO	R wave amplitude	R wave amplitude
EFO:0004327	EFO:0007741	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0007741	"The magnitude of the R wave, which is the initial upward deflection of the QRS complex following the Q wave representing early depolarization of the ventricles as illustrated by an electrocardiograph. " []	211137	\N	\N	EFO	1	EFO	electrocardiography	R wave amplitude
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0007741	"The magnitude of the R wave, which is the initial upward deflection of the QRS complex following the Q wave representing early depolarization of the ventricles as illustrated by an electrocardiograph. " []	564389	\N	\N	EFO	2	EFO	heart function measurement	R wave amplitude
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0007741	"The magnitude of the R wave, which is the initial upward deflection of the QRS complex following the Q wave representing early depolarization of the ventricles as illustrated by an electrocardiograph. " []	1145568	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	R wave amplitude
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0007741	"The magnitude of the R wave, which is the initial upward deflection of the QRS complex following the Q wave representing early depolarization of the ventricles as illustrated by an electrocardiograph. " []	2028072	\N	\N	EFO	4	EFO	cardiovascular measurement	R wave amplitude
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007741	"The magnitude of the R wave, which is the initial upward deflection of the QRS complex following the Q wave representing early depolarization of the ventricles as illustrated by an electrocardiograph. " []	3179365	\N	\N	EFO	5	EFO	measurement	R wave amplitude
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007741	"The magnitude of the R wave, which is the initial upward deflection of the QRS complex following the Q wave representing early depolarization of the ventricles as illustrated by an electrocardiograph. " []	4388735	\N	\N	EFO	6	EFO	information entity	R wave amplitude
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007741	"The magnitude of the R wave, which is the initial upward deflection of the QRS complex following the Q wave representing early depolarization of the ventricles as illustrated by an electrocardiograph. " []	5408970	\N	\N	EFO	7	EFO	experimental factor	R wave amplitude
EFO:0007742	\N	\N	"The magnitude of the portion of the electrocardiograph comprising the Q, R, and S waves which together represent ventricular depolarization." []	EFO:0007742	"The magnitude of the portion of the electrocardiograph comprising the Q, R, and S waves which together represent ventricular depolarization." []	68981	\N	\N	EFO	0	EFO	QRS amplitude	QRS amplitude
EFO:0004327	EFO:0007742	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0007742	"The magnitude of the portion of the electrocardiograph comprising the Q, R, and S waves which together represent ventricular depolarization." []	211138	\N	\N	EFO	1	EFO	electrocardiography	QRS amplitude
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0007742	"The magnitude of the portion of the electrocardiograph comprising the Q, R, and S waves which together represent ventricular depolarization." []	564390	\N	\N	EFO	2	EFO	heart function measurement	QRS amplitude
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0007742	"The magnitude of the portion of the electrocardiograph comprising the Q, R, and S waves which together represent ventricular depolarization." []	1145569	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	QRS amplitude
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0007742	"The magnitude of the portion of the electrocardiograph comprising the Q, R, and S waves which together represent ventricular depolarization." []	2028073	\N	\N	EFO	4	EFO	cardiovascular measurement	QRS amplitude
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007742	"The magnitude of the portion of the electrocardiograph comprising the Q, R, and S waves which together represent ventricular depolarization." []	3179366	\N	\N	EFO	5	EFO	measurement	QRS amplitude
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007742	"The magnitude of the portion of the electrocardiograph comprising the Q, R, and S waves which together represent ventricular depolarization." []	4388736	\N	\N	EFO	6	EFO	information entity	QRS amplitude
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007742	"The magnitude of the portion of the electrocardiograph comprising the Q, R, and S waves which together represent ventricular depolarization." []	5408971	\N	\N	EFO	7	EFO	experimental factor	QRS amplitude
EFO:0007743	\N	\N	"quantification of the severity of an infection with the influenza type A virus" []	EFO:0007743	"quantification of the severity of an infection with the influenza type A virus" []	68982	\N	\N	EFO	0	EFO	influenza A severity measurement	influenza A severity measurement
EFO:0001444	EFO:0007743	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007743	"quantification of the severity of an infection with the influenza type A virus" []	211139	\N	\N	EFO	1	EFO	measurement	influenza A severity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007743	"quantification of the severity of an infection with the influenza type A virus" []	564391	\N	\N	EFO	2	EFO	information entity	influenza A severity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007743	"quantification of the severity of an infection with the influenza type A virus" []	1145570	\N	\N	EFO	3	EFO	experimental factor	influenza A severity measurement
EFO:0007744	\N	\N	"quantification of the severity of lung disease, eg cystic fibrosis, through comparison of an individual's FEV1 score to the average age-specific percentile values of FEV1 for each patient in a study\\n\\n\\n" []	EFO:0007744	"quantification of the severity of lung disease, eg cystic fibrosis, through comparison of an individual's FEV1 score to the average age-specific percentile values of FEV1 for each patient in a study\\n\\n\\n" []	68983	\N	\N	EFO	0	EFO	lung disease severity measurement	lung disease severity measurement
EFO:0006841	EFO:0007744	\N	"The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition." []	EFO:0007744	"quantification of the severity of lung disease, eg cystic fibrosis, through comparison of an individual's FEV1 score to the average age-specific percentile values of FEV1 for each patient in a study\\n\\n\\n" []	211140	\N	\N	EFO	1	EFO	respiratory disease biomarker	lung disease severity measurement
EFO:0001444	EFO:0006841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007744	"quantification of the severity of lung disease, eg cystic fibrosis, through comparison of an individual's FEV1 score to the average age-specific percentile values of FEV1 for each patient in a study\\n\\n\\n" []	564392	\N	\N	EFO	2	EFO	measurement	lung disease severity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007744	"quantification of the severity of lung disease, eg cystic fibrosis, through comparison of an individual's FEV1 score to the average age-specific percentile values of FEV1 for each patient in a study\\n\\n\\n" []	1145571	\N	\N	EFO	3	EFO	information entity	lung disease severity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007744	"quantification of the severity of lung disease, eg cystic fibrosis, through comparison of an individual's FEV1 score to the average age-specific percentile values of FEV1 for each patient in a study\\n\\n\\n" []	2028074	\N	\N	EFO	4	EFO	experimental factor	lung disease severity measurement
EFO:0007745	\N	\N	"quantification of lactate in a sample" []	EFO:0007745	"quantification of lactate in a sample" []	68984	\N	\N	EFO	0	EFO	lactate measurement	lactate measurement
EFO:0001444	EFO:0007745	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007745	"quantification of lactate in a sample" []	211141	\N	\N	EFO	1	EFO	measurement	lactate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007745	"quantification of lactate in a sample" []	564393	\N	\N	EFO	2	EFO	information entity	lactate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007745	"quantification of lactate in a sample" []	1145572	\N	\N	EFO	3	EFO	experimental factor	lactate measurement
EFO:0007746	\N	\N	"quantification of the progression of lesions in white matter of the brain using magnetic resonance imaging" []	EFO:0007746	"quantification of the progression of lesions in white matter of the brain using magnetic resonance imaging" []	68985	\N	\N	EFO	0	EFO	white matter lesion progression measurement	white matter lesion progression measurement
EFO:0004464	EFO:0007746	\N	"" []	EFO:0007746	"quantification of the progression of lesions in white matter of the brain using magnetic resonance imaging" []	211142	\N	\N	EFO	1	EFO	brain measurement	white matter lesion progression measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007746	"quantification of the progression of lesions in white matter of the brain using magnetic resonance imaging" []	564394	\N	\N	EFO	2	EFO	measurement	white matter lesion progression measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007746	"quantification of the progression of lesions in white matter of the brain using magnetic resonance imaging" []	1145573	\N	\N	EFO	3	EFO	information entity	white matter lesion progression measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007746	"quantification of the progression of lesions in white matter of the brain using magnetic resonance imaging" []	2028075	\N	\N	EFO	4	EFO	experimental factor	white matter lesion progression measurement
EFO:0007747	\N	\N	"quantification of the severity of hypertrophic scarring in burn patients, usually using the Vancouver Scar Scale (VSS) " []	EFO:0007747	"quantification of the severity of hypertrophic scarring in burn patients, usually using the Vancouver Scar Scale (VSS) " []	68986	\N	\N	EFO	0	EFO	postburn hypertrophic scarring severity measurement	postburn hypertrophic scarring severity measurement
EFO:0001444	EFO:0007747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007747	"quantification of the severity of hypertrophic scarring in burn patients, usually using the Vancouver Scar Scale (VSS) " []	211143	\N	\N	EFO	1	EFO	measurement	postburn hypertrophic scarring severity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007747	"quantification of the severity of hypertrophic scarring in burn patients, usually using the Vancouver Scar Scale (VSS) " []	564395	\N	\N	EFO	2	EFO	information entity	postburn hypertrophic scarring severity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007747	"quantification of the severity of hypertrophic scarring in burn patients, usually using the Vancouver Scar Scale (VSS) " []	1145574	\N	\N	EFO	3	EFO	experimental factor	postburn hypertrophic scarring severity measurement
EFO:0007748	\N	\N	"Non-transformed BJ cells expressing hTERT and SV40 early region." []	EFO:0007748	"Non-transformed BJ cells expressing hTERT and SV40 early region." []	68987	\N	\N	EFO	0	EFO	EH	EH
EFO:0000322	EFO:0007748	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007748	"Non-transformed BJ cells expressing hTERT and SV40 early region." []	211144	\N	\N	EFO	1	EFO	cell line	EH
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007748	"Non-transformed BJ cells expressing hTERT and SV40 early region." []	564396	\N	\N	EFO	2	EFO	material entity	EH
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007748	"Non-transformed BJ cells expressing hTERT and SV40 early region." []	1145575	\N	\N	EFO	3	EFO	experimental factor	EH
EFO:0007749	\N	\N	"Non-transformed BJ cells expressing hTERT." []	EFO:0007749	"Non-transformed BJ cells expressing hTERT." []	68988	\N	\N	EFO	0	EFO	EL	EL
EFO:0000322	EFO:0007749	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007749	"Non-transformed BJ cells expressing hTERT." []	211145	\N	\N	EFO	1	EFO	cell line	EL
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007749	"Non-transformed BJ cells expressing hTERT." []	564397	\N	\N	EFO	2	EFO	material entity	EL
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007749	"Non-transformed BJ cells expressing hTERT." []	1145576	\N	\N	EFO	3	EFO	experimental factor	EL
EFO:0007750	\N	\N	"Transformed BJ cells expressing hTERT, SV40 early region and RAS." []	EFO:0007750	"Transformed BJ cells expressing hTERT, SV40 early region and RAS." []	68989	\N	\N	EFO	0	EFO	ELR	ELR
EFO:0000322	EFO:0007750	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007750	"Transformed BJ cells expressing hTERT, SV40 early region and RAS." []	211146	\N	\N	EFO	1	EFO	cell line	ELR
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007750	"Transformed BJ cells expressing hTERT, SV40 early region and RAS." []	564398	\N	\N	EFO	2	EFO	material entity	ELR
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007750	"Transformed BJ cells expressing hTERT, SV40 early region and RAS." []	1145577	\N	\N	EFO	3	EFO	experimental factor	ELR
EFO:0007751	\N	\N	"Feeder free cell line derived from E14TG2a." []	EFO:0007751	"Feeder free cell line derived from E14TG2a." []	68990	\N	\N	EFO	0	EFO	ES-E14TG2a.4	ES-E14TG2a.4
EFO:0000322	EFO:0007751	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007751	"Feeder free cell line derived from E14TG2a." []	211147	\N	\N	EFO	1	EFO	cell line	ES-E14TG2a.4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007751	"Feeder free cell line derived from E14TG2a." []	564399	\N	\N	EFO	2	EFO	material entity	ES-E14TG2a.4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007751	"Feeder free cell line derived from E14TG2a." []	1145578	\N	\N	EFO	3	EFO	experimental factor	ES-E14TG2a.4
EFO:0007752	\N	\N	"Human prostate cancer cell line." []	EFO:0007752	"Human prostate cancer cell line." []	68991	\N	\N	EFO	0	EFO	VCaP	VCaP
EFO:0001639	EFO:0007752	\N	"" []	EFO:0007752	"Human prostate cancer cell line." []	211148	\N	\N	EFO	1	EFO	cancer cell line	VCaP
EFO:0001641	EFO:0007752	\N	"An epithelial cell derived cell line is defined as something that derives from an epithelial cell." []	EFO:0007752	"Human prostate cancer cell line." []	211149	\N	\N	EFO	1	EFO	epithelial cell derived cell line	VCaP
EFO:0002888	EFO:0007752	\N	"" []	EFO:0007752	"Human prostate cancer cell line." []	211150	\N	\N	EFO	1	EFO	Homo sapiens cell line	VCaP
EFO:0002891	EFO:0007752	\N	"Any cell line that is derived from the prostate." []	EFO:0007752	"Human prostate cancer cell line." []	211151	\N	\N	EFO	1	EFO	prostate derived cell line	VCaP
EFO:0000322	EFO:0001639	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007752	"Human prostate cancer cell line." []	564400	\N	\N	EFO	2	EFO	cell line	VCaP
EFO:0000322	EFO:0001641	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007752	"Human prostate cancer cell line." []	564401	\N	\N	EFO	2	EFO	cell line	VCaP
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007752	"Human prostate cancer cell line." []	564402	\N	\N	EFO	2	EFO	cell line	VCaP
EFO:0000322	EFO:0002891	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007752	"Human prostate cancer cell line." []	564403	\N	\N	EFO	2	EFO	cell line	VCaP
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007752	"Human prostate cancer cell line." []	1145579	\N	\N	EFO	3	EFO	material entity	VCaP
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007752	"Human prostate cancer cell line." []	2028076	\N	\N	EFO	4	EFO	experimental factor	VCaP
EFO:0007753	\N	\N	"quantification of some aspect of the seasonal variation in the micrbiome of the gut" []	EFO:0007753	"quantification of some aspect of the seasonal variation in the micrbiome of the gut" []	68992	\N	\N	EFO	0	EFO	seasonal gut microbiome measurement	seasonal gut microbiome measurement
EFO:0007874	EFO:0007753	\N	"quantification of some aspect of an individual's micrbiome of the gut" []	EFO:0007753	"quantification of some aspect of the seasonal variation in the micrbiome of the gut" []	211152	\N	\N	EFO	1	EFO	gut microbiome measurement	seasonal gut microbiome measurement
EFO:0007882	EFO:0007874	\N	"quantification of some aspect of an individual's microbiome" []	EFO:0007753	"quantification of some aspect of the seasonal variation in the micrbiome of the gut" []	564404	\N	\N	EFO	2	EFO	microbiome measurement	seasonal gut microbiome measurement
EFO:0004557	EFO:0007882	\N	"Is the quantification of some measureable quality of a population e.g. birth rate." []	EFO:0007753	"quantification of some aspect of the seasonal variation in the micrbiome of the gut" []	1145580	\N	\N	EFO	3	EFO	population measurement	seasonal gut microbiome measurement
EFO:0001444	EFO:0004557	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007753	"quantification of some aspect of the seasonal variation in the micrbiome of the gut" []	2028077	\N	\N	EFO	4	EFO	measurement	seasonal gut microbiome measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007753	"quantification of some aspect of the seasonal variation in the micrbiome of the gut" []	3179367	\N	\N	EFO	5	EFO	information entity	seasonal gut microbiome measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007753	"quantification of some aspect of the seasonal variation in the micrbiome of the gut" []	4388737	\N	\N	EFO	6	EFO	experimental factor	seasonal gut microbiome measurement
EFO:0007754	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an immunochemotherapy stimulus." []	EFO:0007754	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an immunochemotherapy stimulus." []	68993	\N	\N	EFO	0	EFO	response to immunochemotherapy	response to immunochemotherapy
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0007754	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an immunochemotherapy stimulus." []	194898	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to immunochemotherapy
EFO:0007755	\N	\N	"sequential manifestations of different allergic diseases such as eczema, asthma and rhinitis. Typically, eczema is the first allergic disease in infancy, followed by asthma and/or rhinitis in childhood. " []	EFO:0007755	"sequential manifestations of different allergic diseases such as eczema, asthma and rhinitis. Typically, eczema is the first allergic disease in infancy, followed by asthma and/or rhinitis in childhood. " []	68994	\N	\N	EFO	0	EFO	atopic march	atopic march
OGMS:0000063	EFO:0007755	\N	"" []	EFO:0007755	"sequential manifestations of different allergic diseases such as eczema, asthma and rhinitis. Typically, eczema is the first allergic disease in infancy, followed by asthma and/or rhinitis in childhood. " []	211153	\N	\N	EFO	1	EFO	disease course	atopic march
EFO:0007756	\N	\N	"quantification of the presence or absence of Staphylococcus aureus colonies in an individual. Positive carrier status should not be equated with infection." []	EFO:0007756	"quantification of the presence or absence of Staphylococcus aureus colonies in an individual. Positive carrier status should not be equated with infection." []	68995	\N	\N	EFO	0	EFO	Staphylococcus aureus carrier status	Staphylococcus aureus carrier status
EFO:0007658	EFO:0007756	\N	"quantification of the presence or absence of a marker, eg a gene or a substance, in a sample" []	EFO:0007756	"quantification of the presence or absence of Staphylococcus aureus colonies in an individual. Positive carrier status should not be equated with infection." []	211154	\N	\N	EFO	1	EFO	carrier status	Staphylococcus aureus carrier status
EFO:0001444	EFO:0007658	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007756	"quantification of the presence or absence of Staphylococcus aureus colonies in an individual. Positive carrier status should not be equated with infection." []	564405	\N	\N	EFO	2	EFO	measurement	Staphylococcus aureus carrier status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007756	"quantification of the presence or absence of Staphylococcus aureus colonies in an individual. Positive carrier status should not be equated with infection." []	1145581	\N	\N	EFO	3	EFO	information entity	Staphylococcus aureus carrier status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007756	"quantification of the presence or absence of Staphylococcus aureus colonies in an individual. Positive carrier status should not be equated with infection." []	2028078	\N	\N	EFO	4	EFO	experimental factor	Staphylococcus aureus carrier status
EFO:0007757	\N	\N	"quantification of the consistent presence or absence of Staphylococcus aureus colonies in an individual at at least two separate points in time" []	EFO:0007757	"quantification of the consistent presence or absence of Staphylococcus aureus colonies in an individual at at least two separate points in time" []	68996	\N	\N	EFO	0	EFO	persistent Staphylococcus aureus carrier status	persistent Staphylococcus aureus carrier status
EFO:0007756	EFO:0007757	\N	"quantification of the presence or absence of Staphylococcus aureus colonies in an individual. Positive carrier status should not be equated with infection." []	EFO:0007757	"quantification of the consistent presence or absence of Staphylococcus aureus colonies in an individual at at least two separate points in time" []	211155	\N	\N	EFO	1	EFO	Staphylococcus aureus carrier status	persistent Staphylococcus aureus carrier status
EFO:0007658	EFO:0007756	\N	"quantification of the presence or absence of a marker, eg a gene or a substance, in a sample" []	EFO:0007757	"quantification of the consistent presence or absence of Staphylococcus aureus colonies in an individual at at least two separate points in time" []	564406	\N	\N	EFO	2	EFO	carrier status	persistent Staphylococcus aureus carrier status
EFO:0001444	EFO:0007658	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007757	"quantification of the consistent presence or absence of Staphylococcus aureus colonies in an individual at at least two separate points in time" []	1145582	\N	\N	EFO	3	EFO	measurement	persistent Staphylococcus aureus carrier status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007757	"quantification of the consistent presence or absence of Staphylococcus aureus colonies in an individual at at least two separate points in time" []	2028079	\N	\N	EFO	4	EFO	information entity	persistent Staphylococcus aureus carrier status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007757	"quantification of the consistent presence or absence of Staphylococcus aureus colonies in an individual at at least two separate points in time" []	3179368	\N	\N	EFO	5	EFO	experimental factor	persistent Staphylococcus aureus carrier status
EFO:0007758	\N	\N	"quantification of the change in presence or absence of Staphylococcus aureus colonies in an individual at two different points in time, from positive to negative or negative to positve" []	EFO:0007758	"quantification of the change in presence or absence of Staphylococcus aureus colonies in an individual at two different points in time, from positive to negative or negative to positve" []	68997	\N	\N	EFO	0	EFO	intermittent Staphylococcus aureus carrier status	intermittent Staphylococcus aureus carrier status
EFO:0007756	EFO:0007758	\N	"quantification of the presence or absence of Staphylococcus aureus colonies in an individual. Positive carrier status should not be equated with infection." []	EFO:0007758	"quantification of the change in presence or absence of Staphylococcus aureus colonies in an individual at two different points in time, from positive to negative or negative to positve" []	211156	\N	\N	EFO	1	EFO	Staphylococcus aureus carrier status	intermittent Staphylococcus aureus carrier status
EFO:0007658	EFO:0007756	\N	"quantification of the presence or absence of a marker, eg a gene or a substance, in a sample" []	EFO:0007758	"quantification of the change in presence or absence of Staphylococcus aureus colonies in an individual at two different points in time, from positive to negative or negative to positve" []	564407	\N	\N	EFO	2	EFO	carrier status	intermittent Staphylococcus aureus carrier status
EFO:0001444	EFO:0007658	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007758	"quantification of the change in presence or absence of Staphylococcus aureus colonies in an individual at two different points in time, from positive to negative or negative to positve" []	1145583	\N	\N	EFO	3	EFO	measurement	intermittent Staphylococcus aureus carrier status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007758	"quantification of the change in presence or absence of Staphylococcus aureus colonies in an individual at two different points in time, from positive to negative or negative to positve" []	2028080	\N	\N	EFO	4	EFO	information entity	intermittent Staphylococcus aureus carrier status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007758	"quantification of the change in presence or absence of Staphylococcus aureus colonies in an individual at two different points in time, from positive to negative or negative to positve" []	3179369	\N	\N	EFO	5	EFO	experimental factor	intermittent Staphylococcus aureus carrier status
EFO:0007759	\N	\N	"The determination of the amount of alpha-linolenic acid present in a sample." []	EFO:0007759	"The determination of the amount of alpha-linolenic acid present in a sample." []	68998	\N	\N	EFO	0	EFO	alpha-linolenic acid measurement	alpha-linolenic acid measurement
EFO:0006811	EFO:0007759	\N	"The determination of the amount of linolenic acid present in a sample." []	EFO:0007759	"The determination of the amount of alpha-linolenic acid present in a sample." []	211157	\N	\N	EFO	1	EFO	linolenic acid measurement	alpha-linolenic acid measurement
EFO:0005110	EFO:0006811	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0007759	"The determination of the amount of alpha-linolenic acid present in a sample." []	564408	\N	\N	EFO	2	EFO	fatty acid measurement	alpha-linolenic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0007759	"The determination of the amount of alpha-linolenic acid present in a sample." []	1145584	\N	\N	EFO	3	EFO	lipid measurement	alpha-linolenic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007759	"The determination of the amount of alpha-linolenic acid present in a sample." []	2028081	\N	\N	EFO	4	EFO	lipid or lipoprotein measurement	alpha-linolenic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007759	"The determination of the amount of alpha-linolenic acid present in a sample." []	3179370	\N	\N	EFO	5	EFO	measurement	alpha-linolenic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007759	"The determination of the amount of alpha-linolenic acid present in a sample." []	4388738	\N	\N	EFO	6	EFO	information entity	alpha-linolenic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007759	"The determination of the amount of alpha-linolenic acid present in a sample." []	5408972	\N	\N	EFO	7	EFO	experimental factor	alpha-linolenic acid measurement
EFO:0007760	\N	\N	"The determination of the amount of eicosapentaenoic acid present in a sample." []	EFO:0007760	"The determination of the amount of eicosapentaenoic acid present in a sample." []	68999	\N	\N	EFO	0	EFO	eicosapentaenoic acid measurement	eicosapentaenoic acid measurement
EFO:0005110	EFO:0007760	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0007760	"The determination of the amount of eicosapentaenoic acid present in a sample." []	211158	\N	\N	EFO	1	EFO	fatty acid measurement	eicosapentaenoic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0007760	"The determination of the amount of eicosapentaenoic acid present in a sample." []	564409	\N	\N	EFO	2	EFO	lipid measurement	eicosapentaenoic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007760	"The determination of the amount of eicosapentaenoic acid present in a sample." []	1145585	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	eicosapentaenoic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007760	"The determination of the amount of eicosapentaenoic acid present in a sample." []	2028082	\N	\N	EFO	4	EFO	measurement	eicosapentaenoic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007760	"The determination of the amount of eicosapentaenoic acid present in a sample." []	3179371	\N	\N	EFO	5	EFO	information entity	eicosapentaenoic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007760	"The determination of the amount of eicosapentaenoic acid present in a sample." []	4388739	\N	\N	EFO	6	EFO	experimental factor	eicosapentaenoic acid measurement
EFO:0007761	\N	\N	"The determination of the amount of docosahexaenoic acid present in a sample." []	EFO:0007761	"The determination of the amount of docosahexaenoic acid present in a sample." []	69000	\N	\N	EFO	0	EFO	docosahexaenoic acid measurement	docosahexaenoic acid measurement
EFO:0005110	EFO:0007761	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0007761	"The determination of the amount of docosahexaenoic acid present in a sample." []	211159	\N	\N	EFO	1	EFO	fatty acid measurement	docosahexaenoic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0007761	"The determination of the amount of docosahexaenoic acid present in a sample." []	564410	\N	\N	EFO	2	EFO	lipid measurement	docosahexaenoic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007761	"The determination of the amount of docosahexaenoic acid present in a sample." []	1145586	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	docosahexaenoic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007761	"The determination of the amount of docosahexaenoic acid present in a sample." []	2028083	\N	\N	EFO	4	EFO	measurement	docosahexaenoic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007761	"The determination of the amount of docosahexaenoic acid present in a sample." []	3179372	\N	\N	EFO	5	EFO	information entity	docosahexaenoic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007761	"The determination of the amount of docosahexaenoic acid present in a sample." []	4388740	\N	\N	EFO	6	EFO	experimental factor	docosahexaenoic acid measurement
EFO:0007762	\N	\N	"The determination of the amount of gamma-linolenic acid present in a sample." []	EFO:0007762	"The determination of the amount of gamma-linolenic acid present in a sample." []	69001	\N	\N	EFO	0	EFO	gamma-linolenic acid measurement	gamma-linolenic acid measurement
EFO:0006811	EFO:0007762	\N	"The determination of the amount of linolenic acid present in a sample." []	EFO:0007762	"The determination of the amount of gamma-linolenic acid present in a sample." []	211160	\N	\N	EFO	1	EFO	linolenic acid measurement	gamma-linolenic acid measurement
EFO:0005110	EFO:0006811	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0007762	"The determination of the amount of gamma-linolenic acid present in a sample." []	564411	\N	\N	EFO	2	EFO	fatty acid measurement	gamma-linolenic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0007762	"The determination of the amount of gamma-linolenic acid present in a sample." []	1145587	\N	\N	EFO	3	EFO	lipid measurement	gamma-linolenic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007762	"The determination of the amount of gamma-linolenic acid present in a sample." []	2028084	\N	\N	EFO	4	EFO	lipid or lipoprotein measurement	gamma-linolenic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007762	"The determination of the amount of gamma-linolenic acid present in a sample." []	3179373	\N	\N	EFO	5	EFO	measurement	gamma-linolenic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007762	"The determination of the amount of gamma-linolenic acid present in a sample." []	4388741	\N	\N	EFO	6	EFO	information entity	gamma-linolenic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007762	"The determination of the amount of gamma-linolenic acid present in a sample." []	5408973	\N	\N	EFO	7	EFO	experimental factor	gamma-linolenic acid measurement
EFO:0007763	\N	\N	"The determination of the amount of dihomo-gamma-linolenic acid present in a sample." []	EFO:0007763	"The determination of the amount of dihomo-gamma-linolenic acid present in a sample." []	69002	\N	\N	EFO	0	EFO	dihomo-gamma-linolenic acid measurement	dihomo-gamma-linolenic acid measurement
EFO:0005680	EFO:0007763	\N	"The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample." []	EFO:0007763	"The determination of the amount of dihomo-gamma-linolenic acid present in a sample." []	211161	\N	\N	EFO	1	EFO	omega-6 polyunsaturated fatty acid measurement	dihomo-gamma-linolenic acid measurement
EFO:0005110	EFO:0005680	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0007763	"The determination of the amount of dihomo-gamma-linolenic acid present in a sample." []	564412	\N	\N	EFO	2	EFO	fatty acid measurement	dihomo-gamma-linolenic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0007763	"The determination of the amount of dihomo-gamma-linolenic acid present in a sample." []	1145588	\N	\N	EFO	3	EFO	lipid measurement	dihomo-gamma-linolenic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007763	"The determination of the amount of dihomo-gamma-linolenic acid present in a sample." []	2028085	\N	\N	EFO	4	EFO	lipid or lipoprotein measurement	dihomo-gamma-linolenic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007763	"The determination of the amount of dihomo-gamma-linolenic acid present in a sample." []	3179374	\N	\N	EFO	5	EFO	measurement	dihomo-gamma-linolenic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007763	"The determination of the amount of dihomo-gamma-linolenic acid present in a sample." []	4388742	\N	\N	EFO	6	EFO	information entity	dihomo-gamma-linolenic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007763	"The determination of the amount of dihomo-gamma-linolenic acid present in a sample." []	5408974	\N	\N	EFO	7	EFO	experimental factor	dihomo-gamma-linolenic acid measurement
EFO:0007764	\N	\N	"The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of arachidonic acid:diohomo-gamma-linolenic acid" []	EFO:0007764	"The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of arachidonic acid:diohomo-gamma-linolenic acid" []	69003	\N	\N	EFO	0	EFO	delta-5 desaturase measurement	delta-5 desaturase measurement
EFO:0001444	EFO:0007764	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007764	"The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of arachidonic acid:diohomo-gamma-linolenic acid" []	211162	\N	\N	EFO	1	EFO	measurement	delta-5 desaturase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007764	"The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of arachidonic acid:diohomo-gamma-linolenic acid" []	564413	\N	\N	EFO	2	EFO	information entity	delta-5 desaturase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007764	"The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of arachidonic acid:diohomo-gamma-linolenic acid" []	1145589	\N	\N	EFO	3	EFO	experimental factor	delta-5 desaturase measurement
EFO:0007765	\N	\N	"The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of diohomo-gamma-linolenic acid:linolenic acid" []	EFO:0007765	"The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of diohomo-gamma-linolenic acid:linolenic acid" []	69004	\N	\N	EFO	0	EFO	delta-6 desaturase measurement	delta-6 desaturase measurement
EFO:0001444	EFO:0007765	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007765	"The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of diohomo-gamma-linolenic acid:linolenic acid" []	211163	\N	\N	EFO	1	EFO	measurement	delta-6 desaturase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007765	"The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of diohomo-gamma-linolenic acid:linolenic acid" []	564414	\N	\N	EFO	2	EFO	information entity	delta-6 desaturase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007765	"The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of diohomo-gamma-linolenic acid:linolenic acid" []	1145590	\N	\N	EFO	3	EFO	experimental factor	delta-6 desaturase measurement
EFO:0007766	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a beta blocker stimulus" []	EFO:0007766	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a beta blocker stimulus" []	69005	\N	\N	EFO	0	EFO	response to beta blocker	response to beta blocker
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007766	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a beta blocker stimulus" []	194899	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to beta blocker
EFO:0007767	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium channel blocker stimulus" []	EFO:0007767	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium channel blocker stimulus" []	69006	\N	\N	EFO	0	EFO	response to calcium channel blocker	response to calcium channel blocker
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007767	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium channel blocker stimulus" []	194900	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to calcium channel blocker
EFO:0007768	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of undertaking regular physical activity" []	EFO:0007768	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of undertaking regular physical activity" []	69007	\N	\N	EFO	0	EFO	response to exercise	response to exercise
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0007768	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of undertaking regular physical activity" []	194901	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to exercise
EFO:0007769	\N	\N	"quantification of the ratio of thoracic circumference to hip circumference, used as an indicator of type 2 diabetes risk" []	EFO:0007769	"quantification of the ratio of thoracic circumference to hip circumference, used as an indicator of type 2 diabetes risk" []	69008	\N	\N	EFO	0	EFO	thoracic-to-hip circumference ratio measurement	thoracic-to-hip circumference ratio measurement
EFO:0007861	EFO:0007769	\N	"quantification of the ratio between two body measures, eg waist-hip ratio" []	EFO:0007769	"quantification of the ratio of thoracic circumference to hip circumference, used as an indicator of type 2 diabetes risk" []	211164	\N	\N	EFO	1	EFO	body ratio measurement	thoracic-to-hip circumference ratio measurement
EFO:0004324	EFO:0007861	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0007769	"quantification of the ratio of thoracic circumference to hip circumference, used as an indicator of type 2 diabetes risk" []	564415	\N	\N	EFO	2	EFO	body weights and measures	thoracic-to-hip circumference ratio measurement
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0007769	"quantification of the ratio of thoracic circumference to hip circumference, used as an indicator of type 2 diabetes risk" []	1145591	\N	\N	EFO	3	EFO	anthropometric measurement	thoracic-to-hip circumference ratio measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007769	"quantification of the ratio of thoracic circumference to hip circumference, used as an indicator of type 2 diabetes risk" []	2028086	\N	\N	EFO	4	EFO	measurement	thoracic-to-hip circumference ratio measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007769	"quantification of the ratio of thoracic circumference to hip circumference, used as an indicator of type 2 diabetes risk" []	3179375	\N	\N	EFO	5	EFO	information entity	thoracic-to-hip circumference ratio measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007769	"quantification of the ratio of thoracic circumference to hip circumference, used as an indicator of type 2 diabetes risk" []	4388743	\N	\N	EFO	6	EFO	experimental factor	thoracic-to-hip circumference ratio measurement
EFO:0007770	\N	\N	"quantification of the amount of fentanyl, an opiate, consumed within the first 24hrs after a surgical intervention" []	EFO:0007770	"quantification of the amount of fentanyl, an opiate, consumed within the first 24hrs after a surgical intervention" []	69009	\N	\N	EFO	0	EFO	post-operative fentanyl consumption measurement	post-operative fentanyl consumption measurement
EFO:0001444	EFO:0007770	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007770	"quantification of the amount of fentanyl, an opiate, consumed within the first 24hrs after a surgical intervention" []	211165	\N	\N	EFO	1	EFO	measurement	post-operative fentanyl consumption measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007770	"quantification of the amount of fentanyl, an opiate, consumed within the first 24hrs after a surgical intervention" []	564416	\N	\N	EFO	2	EFO	information entity	post-operative fentanyl consumption measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007770	"quantification of the amount of fentanyl, an opiate, consumed within the first 24hrs after a surgical intervention" []	1145592	\N	\N	EFO	3	EFO	experimental factor	post-operative fentanyl consumption measurement
EFO:0007771	\N	\N	"quantification of  the absence of residual invasive disease in the breast and in the axillary lymph nodes at the completion of the neoadjuvant treatment" []	EFO:0007771	"quantification of  the absence of residual invasive disease in the breast and in the axillary lymph nodes at the completion of the neoadjuvant treatment" []	69010	\N	\N	EFO	0	EFO	pathologic complete response measurement	pathologic complete response measurement
EFO:0001444	EFO:0007771	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007771	"quantification of  the absence of residual invasive disease in the breast and in the axillary lymph nodes at the completion of the neoadjuvant treatment" []	211166	\N	\N	EFO	1	EFO	measurement	pathologic complete response measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007771	"quantification of  the absence of residual invasive disease in the breast and in the axillary lymph nodes at the completion of the neoadjuvant treatment" []	564417	\N	\N	EFO	2	EFO	information entity	pathologic complete response measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007771	"quantification of  the absence of residual invasive disease in the breast and in the axillary lymph nodes at the completion of the neoadjuvant treatment" []	1145593	\N	\N	EFO	3	EFO	experimental factor	pathologic complete response measurement
EFO:0007772	\N	\N	"bone quantitiave ultrasound of the main bone in the heel, recognized as a non-invasive method for evaluation of bone strength and prediction of osteoporotic fracture" []	EFO:0007772	"bone quantitiave ultrasound of the main bone in the heel, recognized as a non-invasive method for evaluation of bone strength and prediction of osteoporotic fracture" []	69011	\N	\N	EFO	0	EFO	calcaneal bone quantitative ultrasound measurement	calcaneal bone quantitative ultrasound measurement
EFO:0004514	EFO:0007772	\N	"A bone quantitative ultrasound measurement is the output of a an ultrasound process in which bones are assayed using ultrasound and information about bone density, cortical thickness, elasticity and microarchitecture may be returned." []	EFO:0007772	"bone quantitiave ultrasound of the main bone in the heel, recognized as a non-invasive method for evaluation of bone strength and prediction of osteoporotic fracture" []	211167	\N	\N	EFO	1	EFO	bone quantitative ultrasound measurement	calcaneal bone quantitative ultrasound measurement
EFO:0004516	EFO:0004514	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0007772	"bone quantitiave ultrasound of the main bone in the heel, recognized as a non-invasive method for evaluation of bone strength and prediction of osteoporotic fracture" []	564418	\N	\N	EFO	2	EFO	bone fracture related measurement	calcaneal bone quantitative ultrasound measurement
EFO:0004512	EFO:0004516	\N	"" []	EFO:0007772	"bone quantitiave ultrasound of the main bone in the heel, recognized as a non-invasive method for evaluation of bone strength and prediction of osteoporotic fracture" []	1145594	\N	\N	EFO	3	EFO	bone measurement	calcaneal bone quantitative ultrasound measurement
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007772	"bone quantitiave ultrasound of the main bone in the heel, recognized as a non-invasive method for evaluation of bone strength and prediction of osteoporotic fracture" []	2028087	\N	\N	EFO	4	EFO	measurement	calcaneal bone quantitative ultrasound measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007772	"bone quantitiave ultrasound of the main bone in the heel, recognized as a non-invasive method for evaluation of bone strength and prediction of osteoporotic fracture" []	3179376	\N	\N	EFO	5	EFO	information entity	calcaneal bone quantitative ultrasound measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007772	"bone quantitiave ultrasound of the main bone in the heel, recognized as a non-invasive method for evaluation of bone strength and prediction of osteoporotic fracture" []	4388744	\N	\N	EFO	6	EFO	experimental factor	calcaneal bone quantitative ultrasound measurement
EFO:0007773	\N	\N	"quantification of the presence or absence of psoriatic arthritis in patients with psoriasis vulgaris" []	EFO:0007773	"quantification of the presence or absence of psoriatic arthritis in patients with psoriasis vulgaris" []	69012	\N	\N	EFO	0	EFO	cutaneous psoriasis measurement	cutaneous psoriasis measurement
EFO:0001444	EFO:0007773	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007773	"quantification of the presence or absence of psoriatic arthritis in patients with psoriasis vulgaris" []	211168	\N	\N	EFO	1	EFO	measurement	cutaneous psoriasis measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007773	"quantification of the presence or absence of psoriatic arthritis in patients with psoriasis vulgaris" []	564419	\N	\N	EFO	2	EFO	information entity	cutaneous psoriasis measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007773	"quantification of the presence or absence of psoriatic arthritis in patients with psoriasis vulgaris" []	1145595	\N	\N	EFO	3	EFO	experimental factor	cutaneous psoriasis measurement
EFO:0007774	\N	\N	"quantification of the amount of thrombomodulin in a sample" []	EFO:0007774	"quantification of the amount of thrombomodulin in a sample" []	69013	\N	\N	EFO	0	EFO	thrombomodulin measurement	thrombomodulin measurement
EFO:0001444	EFO:0007774	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007774	"quantification of the amount of thrombomodulin in a sample" []	211169	\N	\N	EFO	1	EFO	measurement	thrombomodulin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007774	"quantification of the amount of thrombomodulin in a sample" []	564420	\N	\N	EFO	2	EFO	information entity	thrombomodulin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007774	"quantification of the amount of thrombomodulin in a sample" []	1145596	\N	\N	EFO	3	EFO	experimental factor	thrombomodulin measurement
EFO:0007775	\N	\N	"quantification of the amount of thrombin-antithrombin complex in a sample" []	EFO:0007775	"quantification of the amount of thrombin-antithrombin complex in a sample" []	69014	\N	\N	EFO	0	EFO	thrombin-antithrombin complex measurement	thrombin-antithrombin complex measurement
EFO:0001444	EFO:0007775	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007775	"quantification of the amount of thrombin-antithrombin complex in a sample" []	211170	\N	\N	EFO	1	EFO	measurement	thrombin-antithrombin complex measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007775	"quantification of the amount of thrombin-antithrombin complex in a sample" []	564421	\N	\N	EFO	2	EFO	information entity	thrombin-antithrombin complex measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007775	"quantification of the amount of thrombin-antithrombin complex in a sample" []	1145597	\N	\N	EFO	3	EFO	experimental factor	thrombin-antithrombin complex measurement
EFO:0007776	\N	\N	"quantification of the amount of prothrombin fragments F1+2 in a sample" []	EFO:0007776	"quantification of the amount of prothrombin fragments F1+2 in a sample" []	69015	\N	\N	EFO	0	EFO	prothrombin fragments F1+2 measurement	prothrombin fragments F1+2 measurement
EFO:0001444	EFO:0007776	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007776	"quantification of the amount of prothrombin fragments F1+2 in a sample" []	211171	\N	\N	EFO	1	EFO	measurement	prothrombin fragments F1+2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007776	"quantification of the amount of prothrombin fragments F1+2 in a sample" []	564422	\N	\N	EFO	2	EFO	information entity	prothrombin fragments F1+2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007776	"quantification of the amount of prothrombin fragments F1+2 in a sample" []	1145598	\N	\N	EFO	3	EFO	experimental factor	prothrombin fragments F1+2 measurement
EFO:0007777	\N	\N	"quantification of an individual's base metabolic rate, the minimum amount of energy required to sustain life while at complete rest, including the body being in a post-absorptive state (ie the digestive system is inactive). BMR differs from RMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." []	EFO:0007777	"quantification of an individual's base metabolic rate, the minimum amount of energy required to sustain life while at complete rest, including the body being in a post-absorptive state (ie the digestive system is inactive). BMR differs from RMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." []	69016	\N	\N	EFO	0	EFO	base metabolic rate measurement	base metabolic rate measurement
EFO:0005115	EFO:0007777	\N	"a quantification of metabolic rate" []	EFO:0007777	"quantification of an individual's base metabolic rate, the minimum amount of energy required to sustain life while at complete rest, including the body being in a post-absorptive state (ie the digestive system is inactive). BMR differs from RMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." []	211172	\N	\N	EFO	1	EFO	metabolic rate measurement	base metabolic rate measurement
EFO:0001444	EFO:0005115	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007777	"quantification of an individual's base metabolic rate, the minimum amount of energy required to sustain life while at complete rest, including the body being in a post-absorptive state (ie the digestive system is inactive). BMR differs from RMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." []	564423	\N	\N	EFO	2	EFO	measurement	base metabolic rate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007777	"quantification of an individual's base metabolic rate, the minimum amount of energy required to sustain life while at complete rest, including the body being in a post-absorptive state (ie the digestive system is inactive). BMR differs from RMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." []	1145599	\N	\N	EFO	3	EFO	information entity	base metabolic rate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007777	"quantification of an individual's base metabolic rate, the minimum amount of energy required to sustain life while at complete rest, including the body being in a post-absorptive state (ie the digestive system is inactive). BMR differs from RMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." []	2028088	\N	\N	EFO	4	EFO	experimental factor	base metabolic rate measurement
EFO:0007778	\N	\N	"quantification of the ratio of albumin to creatinine in a urine sample" []	EFO:0007778	"quantification of the ratio of albumin to creatinine in a urine sample" []	69017	\N	\N	EFO	0	EFO	urinary albumin to creatinine ratio	urinary albumin to creatinine ratio
EFO:0005116	EFO:0007778	\N	"quantification of some metabolite in urine" []	EFO:0007778	"quantification of the ratio of albumin to creatinine in a urine sample" []	211173	\N	\N	EFO	1	EFO	urinary metabolite measurement	urinary albumin to creatinine ratio
EFO:0004725	EFO:0005116	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0007778	"quantification of the ratio of albumin to creatinine in a urine sample" []	564424	\N	\N	EFO	2	EFO	metabolite measurement	urinary albumin to creatinine ratio
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007778	"quantification of the ratio of albumin to creatinine in a urine sample" []	1145600	\N	\N	EFO	3	EFO	measurement	urinary albumin to creatinine ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007778	"quantification of the ratio of albumin to creatinine in a urine sample" []	2028089	\N	\N	EFO	4	EFO	information entity	urinary albumin to creatinine ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007778	"quantification of the ratio of albumin to creatinine in a urine sample" []	3179377	\N	\N	EFO	5	EFO	experimental factor	urinary albumin to creatinine ratio
EFO:0007779	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with pazopanib, a multi-targeted receptor tyrosine kinase inhibitor that blocks tumour growth and inhibits angiogenesis, used to treat renal cell carcinoma and soft tissue sarcoma" []	EFO:0007779	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with pazopanib, a multi-targeted receptor tyrosine kinase inhibitor that blocks tumour growth and inhibits angiogenesis, used to treat renal cell carcinoma and soft tissue sarcoma" []	69018	\N	\N	EFO	0	EFO	response to pazopanib	response to pazopanib
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0007779	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with pazopanib, a multi-targeted receptor tyrosine kinase inhibitor that blocks tumour growth and inhibits angiogenesis, used to treat renal cell carcinoma and soft tissue sarcoma" []	194902	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to pazopanib
EFO:0007780	\N	\N	"quantification of some aspect of periodontitis or periodontal examinations, including acute vs chronic status, interproximal clincial attachement level and others" []	EFO:0007780	"quantification of some aspect of periodontitis or periodontal examinations, including acute vs chronic status, interproximal clincial attachement level and others" []	69019	\N	\N	EFO	0	EFO	periodontal measurement	periodontal measurement
EFO:0001444	EFO:0007780	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007780	"quantification of some aspect of periodontitis or periodontal examinations, including acute vs chronic status, interproximal clincial attachement level and others" []	211174	\N	\N	EFO	1	EFO	measurement	periodontal measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007780	"quantification of some aspect of periodontitis or periodontal examinations, including acute vs chronic status, interproximal clincial attachement level and others" []	564425	\N	\N	EFO	2	EFO	information entity	periodontal measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007780	"quantification of some aspect of periodontitis or periodontal examinations, including acute vs chronic status, interproximal clincial attachement level and others" []	1145601	\N	\N	EFO	3	EFO	experimental factor	periodontal measurement
EFO:0007781	\N	\N	"Quantification of some aspect of stressful life events, such as the presence or absence thereof, the severity of the event or their impact on general health or pre-existing conditions. Data is generally captured via questionnaires and interviews by qualified mental health care professionals." []	EFO:0007781	"Quantification of some aspect of stressful life events, such as the presence or absence thereof, the severity of the event or their impact on general health or pre-existing conditions. Data is generally captured via questionnaires and interviews by qualified mental health care professionals." []	69020	\N	\N	EFO	0	EFO	stressful life event measurement	stressful life event measurement
EFO:0006848	EFO:0007781	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007781	"Quantification of some aspect of stressful life events, such as the presence or absence thereof, the severity of the event or their impact on general health or pre-existing conditions. Data is generally captured via questionnaires and interviews by qualified mental health care professionals." []	211175	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	stressful life event measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007781	"Quantification of some aspect of stressful life events, such as the presence or absence thereof, the severity of the event or their impact on general health or pre-existing conditions. Data is generally captured via questionnaires and interviews by qualified mental health care professionals." []	564426	\N	\N	EFO	2	EFO	measurement	stressful life event measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007781	"Quantification of some aspect of stressful life events, such as the presence or absence thereof, the severity of the event or their impact on general health or pre-existing conditions. Data is generally captured via questionnaires and interviews by qualified mental health care professionals." []	1145602	\N	\N	EFO	3	EFO	information entity	stressful life event measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007781	"Quantification of some aspect of stressful life events, such as the presence or absence thereof, the severity of the event or their impact on general health or pre-existing conditions. Data is generally captured via questionnaires and interviews by qualified mental health care professionals." []	2028090	\N	\N	EFO	4	EFO	experimental factor	stressful life event measurement
EFO:0007783	\N	\N	"" []	EFO:0007783	"" []	69021	\N	\N	EFO	0	EFO	mosaic loss of chromosome Y measurement	mosaic loss of chromosome Y measurement
EFO:0004554	EFO:0007783	\N	"Is a quantification of some aspect of the genome, e.g. copy number variation at some locus." []	EFO:0007783	"" []	211176	\N	\N	EFO	1	EFO	genomic measurement	mosaic loss of chromosome Y measurement
EFO:0001444	EFO:0004554	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007783	"" []	564427	\N	\N	EFO	2	EFO	measurement	mosaic loss of chromosome Y measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007783	"" []	1145603	\N	\N	EFO	3	EFO	information entity	mosaic loss of chromosome Y measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007783	"" []	2028091	\N	\N	EFO	4	EFO	experimental factor	mosaic loss of chromosome Y measurement
EFO:0007784	\N	\N	"quantification of some aspect of muscle function deterioration such as the rate at which it occurs or its severity, for example in patients with neurodegenerative conditions such as ALS. Functional decline is ususally assessed using a combination of physical exams and structured-interview protocols covering a number of standardised areas." []	EFO:0007784	"quantification of some aspect of muscle function deterioration such as the rate at which it occurs or its severity, for example in patients with neurodegenerative conditions such as ALS. Functional decline is ususally assessed using a combination of physical exams and structured-interview protocols covering a number of standardised areas." []	69022	\N	\N	EFO	0	EFO	functional decline measurement	functional decline measurement
EFO:0001444	EFO:0007784	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007784	"quantification of some aspect of muscle function deterioration such as the rate at which it occurs or its severity, for example in patients with neurodegenerative conditions such as ALS. Functional decline is ususally assessed using a combination of physical exams and structured-interview protocols covering a number of standardised areas." []	211177	\N	\N	EFO	1	EFO	measurement	functional decline measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007784	"quantification of some aspect of muscle function deterioration such as the rate at which it occurs or its severity, for example in patients with neurodegenerative conditions such as ALS. Functional decline is ususally assessed using a combination of physical exams and structured-interview protocols covering a number of standardised areas." []	564428	\N	\N	EFO	2	EFO	information entity	functional decline measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007784	"quantification of some aspect of muscle function deterioration such as the rate at which it occurs or its severity, for example in patients with neurodegenerative conditions such as ALS. Functional decline is ususally assessed using a combination of physical exams and structured-interview protocols covering a number of standardised areas." []	1145604	\N	\N	EFO	3	EFO	experimental factor	functional decline measurement
EFO:0007785	\N	\N	"mineral density of the neck of the femur, the region just below the ball of the hip joint" []	EFO:0007785	"mineral density of the neck of the femur, the region just below the ball of the hip joint" []	69023	\N	\N	EFO	0	EFO	femoral neck bone mineral density	femoral neck bone mineral density
EFO:0007702	EFO:0007785	\N	"mineral density of the hip bone" []	EFO:0007785	"mineral density of the neck of the femur, the region just below the ball of the hip joint" []	211178	\N	\N	EFO	1	EFO	hip bone mineral density	femoral neck bone mineral density
EFO:0003923	EFO:0007702	\N	"The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS." []	EFO:0007785	"mineral density of the neck of the femur, the region just below the ball of the hip joint" []	564429	\N	\N	EFO	2	EFO	bone density	femoral neck bone mineral density
EFO:0004516	EFO:0003923	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0007785	"mineral density of the neck of the femur, the region just below the ball of the hip joint" []	1145605	\N	\N	EFO	3	EFO	bone fracture related measurement	femoral neck bone mineral density
EFO:0004512	EFO:0004516	\N	"" []	EFO:0007785	"mineral density of the neck of the femur, the region just below the ball of the hip joint" []	2028092	\N	\N	EFO	4	EFO	bone measurement	femoral neck bone mineral density
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007785	"mineral density of the neck of the femur, the region just below the ball of the hip joint" []	3179378	\N	\N	EFO	5	EFO	measurement	femoral neck bone mineral density
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007785	"mineral density of the neck of the femur, the region just below the ball of the hip joint" []	4388745	\N	\N	EFO	6	EFO	information entity	femoral neck bone mineral density
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007785	"mineral density of the neck of the femur, the region just below the ball of the hip joint" []	5408975	\N	\N	EFO	7	EFO	experimental factor	femoral neck bone mineral density
EFO:0007786	\N	\N	"quantification of some aspect's of a female's menstrual cycle such as its length" []	EFO:0007786	"quantification of some aspect's of a female's menstrual cycle such as its length" []	69024	\N	\N	EFO	0	EFO	menstrual cycle measurement	menstrual cycle measurement
EFO:0001444	EFO:0007786	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007786	"quantification of some aspect's of a female's menstrual cycle such as its length" []	211179	\N	\N	EFO	1	EFO	measurement	menstrual cycle measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007786	"quantification of some aspect's of a female's menstrual cycle such as its length" []	564430	\N	\N	EFO	2	EFO	information entity	menstrual cycle measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007786	"quantification of some aspect's of a female's menstrual cycle such as its length" []	1145606	\N	\N	EFO	3	EFO	experimental factor	menstrual cycle measurement
EFO:0007787	\N	\N	"quantification in a plasma sample of betaine, an amino acid derived from glycine. Betaine has been identified as a potential biomarker for coronary artery disease" []	EFO:0007787	"quantification in a plasma sample of betaine, an amino acid derived from glycine. Betaine has been identified as a potential biomarker for coronary artery disease" []	69025	\N	\N	EFO	0	EFO	plasma betaine measurement	plasma betaine measurement
EFO:0005278	EFO:0007787	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0007787	"quantification in a plasma sample of betaine, an amino acid derived from glycine. Betaine has been identified as a potential biomarker for coronary artery disease" []	211180	\N	\N	EFO	1	EFO	cardiovascular disease biomarker measurement	plasma betaine measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0007787	"quantification in a plasma sample of betaine, an amino acid derived from glycine. Betaine has been identified as a potential biomarker for coronary artery disease" []	564431	\N	\N	EFO	2	EFO	cardiovascular measurement	plasma betaine measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007787	"quantification in a plasma sample of betaine, an amino acid derived from glycine. Betaine has been identified as a potential biomarker for coronary artery disease" []	1145607	\N	\N	EFO	3	EFO	measurement	plasma betaine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007787	"quantification in a plasma sample of betaine, an amino acid derived from glycine. Betaine has been identified as a potential biomarker for coronary artery disease" []	2028093	\N	\N	EFO	4	EFO	information entity	plasma betaine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007787	"quantification in a plasma sample of betaine, an amino acid derived from glycine. Betaine has been identified as a potential biomarker for coronary artery disease" []	3179379	\N	\N	EFO	5	EFO	experimental factor	plasma betaine measurement
EFO:0007788	\N	\N	"waist-hip ratio that has been adjusted by subjects body mass index" []	EFO:0007788	"waist-hip ratio that has been adjusted by subjects body mass index" []	69026	\N	\N	EFO	0	EFO	BMI-adjusted waist-hip ratio	BMI-adjusted waist-hip ratio
EFO:0004343	EFO:0007788	\N	"The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered \\"at risk\\" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)" []	EFO:0007788	"waist-hip ratio that has been adjusted by subjects body mass index" []	211181	\N	\N	EFO	1	EFO	waist-hip ratio	BMI-adjusted waist-hip ratio
EFO:0007861	EFO:0004343	\N	"quantification of the ratio between two body measures, eg waist-hip ratio" []	EFO:0007788	"waist-hip ratio that has been adjusted by subjects body mass index" []	564432	\N	\N	EFO	2	EFO	body ratio measurement	BMI-adjusted waist-hip ratio
EFO:0004324	EFO:0007861	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0007788	"waist-hip ratio that has been adjusted by subjects body mass index" []	1145608	\N	\N	EFO	3	EFO	body weights and measures	BMI-adjusted waist-hip ratio
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0007788	"waist-hip ratio that has been adjusted by subjects body mass index" []	2028094	\N	\N	EFO	4	EFO	anthropometric measurement	BMI-adjusted waist-hip ratio
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007788	"waist-hip ratio that has been adjusted by subjects body mass index" []	3179380	\N	\N	EFO	5	EFO	measurement	BMI-adjusted waist-hip ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007788	"waist-hip ratio that has been adjusted by subjects body mass index" []	4388746	\N	\N	EFO	6	EFO	information entity	BMI-adjusted waist-hip ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007788	"waist-hip ratio that has been adjusted by subjects body mass index" []	5408976	\N	\N	EFO	7	EFO	experimental factor	BMI-adjusted waist-hip ratio
EFO:0007789	\N	\N	"waist circumference measurement that has been adjusted by subjects body mass index" []	EFO:0007789	"waist circumference measurement that has been adjusted by subjects body mass index" []	69027	\N	\N	EFO	0	EFO	BMI-adjusted waist circumference	BMI-adjusted waist circumference
EFO:0004342	EFO:0007789	\N	"The measurement around the body at the level of theABDOMENand just above the hip bone. The measurement is usually taken immediately after exhalation." []	EFO:0007789	"waist circumference measurement that has been adjusted by subjects body mass index" []	211182	\N	\N	EFO	1	EFO	waist circumference	BMI-adjusted waist circumference
EFO:0004324	EFO:0004342	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0007789	"waist circumference measurement that has been adjusted by subjects body mass index" []	564433	\N	\N	EFO	2	EFO	body weights and measures	BMI-adjusted waist circumference
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0007789	"waist circumference measurement that has been adjusted by subjects body mass index" []	1145609	\N	\N	EFO	3	EFO	anthropometric measurement	BMI-adjusted waist circumference
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007789	"waist circumference measurement that has been adjusted by subjects body mass index" []	2028095	\N	\N	EFO	4	EFO	measurement	BMI-adjusted waist circumference
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007789	"waist circumference measurement that has been adjusted by subjects body mass index" []	3179381	\N	\N	EFO	5	EFO	information entity	BMI-adjusted waist circumference
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007789	"waist circumference measurement that has been adjusted by subjects body mass index" []	4388747	\N	\N	EFO	6	EFO	experimental factor	BMI-adjusted waist circumference
EFO:0007790	\N	\N	"measurement of the IgG antibody isotype produced by plasma cells in response to an Epstein Barr virus infection, specifically to the EpsteinBarr virus nuclear antigen 1" []	EFO:0007790	"measurement of the IgG antibody isotype produced by plasma cells in response to an Epstein Barr virus infection, specifically to the EpsteinBarr virus nuclear antigen 1" []	69028	\N	\N	EFO	0	EFO	Epstein Barr virus nuclear antigen 1 IgG measurement	Epstein Barr virus nuclear antigen 1 IgG measurement
EFO:0004565	EFO:0007790	\N	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	EFO:0007790	"measurement of the IgG antibody isotype produced by plasma cells in response to an Epstein Barr virus infection, specifically to the EpsteinBarr virus nuclear antigen 1" []	211183	\N	\N	EFO	1	EFO	serum IgG measurement	Epstein Barr virus nuclear antigen 1 IgG measurement
EFO:0006843	EFO:0007790	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0007790	"measurement of the IgG antibody isotype produced by plasma cells in response to an Epstein Barr virus infection, specifically to the EpsteinBarr virus nuclear antigen 1" []	211184	\N	\N	EFO	1	EFO	infectious disease biomarker	Epstein Barr virus nuclear antigen 1 IgG measurement
EFO:0004556	EFO:0004565	\N	"Is the quantification of some antibody" []	EFO:0007790	"measurement of the IgG antibody isotype produced by plasma cells in response to an Epstein Barr virus infection, specifically to the EpsteinBarr virus nuclear antigen 1" []	564434	\N	\N	EFO	2	EFO	antibody measurement	Epstein Barr virus nuclear antigen 1 IgG measurement
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007790	"measurement of the IgG antibody isotype produced by plasma cells in response to an Epstein Barr virus infection, specifically to the EpsteinBarr virus nuclear antigen 1" []	564435	\N	\N	EFO	2	EFO	measurement	Epstein Barr virus nuclear antigen 1 IgG measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007790	"measurement of the IgG antibody isotype produced by plasma cells in response to an Epstein Barr virus infection, specifically to the EpsteinBarr virus nuclear antigen 1" []	1145610	\N	\N	EFO	3	EFO	measurement	Epstein Barr virus nuclear antigen 1 IgG measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007790	"measurement of the IgG antibody isotype produced by plasma cells in response to an Epstein Barr virus infection, specifically to the EpsteinBarr virus nuclear antigen 1" []	2028096	\N	\N	EFO	4	EFO	information entity	Epstein Barr virus nuclear antigen 1 IgG measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007790	"measurement of the IgG antibody isotype produced by plasma cells in response to an Epstein Barr virus infection, specifically to the EpsteinBarr virus nuclear antigen 1" []	2999909	\N	\N	EFO	5	EFO	experimental factor	Epstein Barr virus nuclear antigen 1 IgG measurement
EFO:0007791	\N	\N	"rheumatoid factor seropositivity is the result of a measurement of circulating  autoantibodies called rheumatoid factors that contribute to a number of autoimmune diseases including rheumatoid arthritis" []	EFO:0007791	"rheumatoid factor seropositivity is the result of a measurement of circulating  autoantibodies called rheumatoid factors that contribute to a number of autoimmune diseases including rheumatoid arthritis" []	69029	\N	\N	EFO	0	EFO	rheumatoid factor seropositivity measurement	rheumatoid factor seropositivity measurement
EFO:0007034	EFO:0007791	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0007791	"rheumatoid factor seropositivity is the result of a measurement of circulating  autoantibodies called rheumatoid factors that contribute to a number of autoimmune diseases including rheumatoid arthritis" []	211185	\N	\N	EFO	1	EFO	seropositivity measurement	rheumatoid factor seropositivity measurement
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007791	"rheumatoid factor seropositivity is the result of a measurement of circulating  autoantibodies called rheumatoid factors that contribute to a number of autoimmune diseases including rheumatoid arthritis" []	564436	\N	\N	EFO	2	EFO	measurement	rheumatoid factor seropositivity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007791	"rheumatoid factor seropositivity is the result of a measurement of circulating  autoantibodies called rheumatoid factors that contribute to a number of autoimmune diseases including rheumatoid arthritis" []	1145612	\N	\N	EFO	3	EFO	information entity	rheumatoid factor seropositivity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007791	"rheumatoid factor seropositivity is the result of a measurement of circulating  autoantibodies called rheumatoid factors that contribute to a number of autoimmune diseases including rheumatoid arthritis" []	2028098	\N	\N	EFO	4	EFO	experimental factor	rheumatoid factor seropositivity measurement
EFO:0007792	\N	\N	"quantification of some aspect of antipsychotic drug use such as drug dosage" []	EFO:0007792	"quantification of some aspect of antipsychotic drug use such as drug dosage" []	69030	\N	\N	EFO	0	EFO	antipsychotic drug use measurement	antipsychotic drug use measurement
EFO:0007010	EFO:0007792	\N	"quantification of some aspect of drug use, such as whether drug use occured, over what period of time it occured and what dosage was used" []	EFO:0007792	"quantification of some aspect of antipsychotic drug use such as drug dosage" []	211186	\N	\N	EFO	1	EFO	drug use measurement	antipsychotic drug use measurement
EFO:0001444	EFO:0007010	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007792	"quantification of some aspect of antipsychotic drug use such as drug dosage" []	564437	\N	\N	EFO	2	EFO	measurement	antipsychotic drug use measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007792	"quantification of some aspect of antipsychotic drug use such as drug dosage" []	1145613	\N	\N	EFO	3	EFO	information entity	antipsychotic drug use measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007792	"quantification of some aspect of antipsychotic drug use such as drug dosage" []	2028099	\N	\N	EFO	4	EFO	experimental factor	antipsychotic drug use measurement
EFO:0007793	\N	\N	"leptin measurement that has been adjusted for subjects' body mass index " []	EFO:0007793	"leptin measurement that has been adjusted for subjects' body mass index " []	69031	\N	\N	EFO	0	EFO	BMI-adjusted leptin measurement	BMI-adjusted leptin measurement
EFO:0005000	EFO:0007793	\N	"Quantification of leptin, a hormone made by adipocytes with a role in the regulation of energy balance. " []	EFO:0007793	"leptin measurement that has been adjusted for subjects' body mass index " []	211187	\N	\N	EFO	1	EFO	leptin measurement	BMI-adjusted leptin measurement
EFO:0004730	EFO:0005000	\N	"" []	EFO:0007793	"leptin measurement that has been adjusted for subjects' body mass index " []	564438	\N	\N	EFO	2	EFO	hormone measurement	BMI-adjusted leptin measurement
EFO:0004747	EFO:0005000	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007793	"leptin measurement that has been adjusted for subjects' body mass index " []	564439	\N	\N	EFO	2	EFO	protein measurement	BMI-adjusted leptin measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007793	"leptin measurement that has been adjusted for subjects' body mass index " []	1145614	\N	\N	EFO	3	EFO	measurement	BMI-adjusted leptin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007793	"leptin measurement that has been adjusted for subjects' body mass index " []	1145615	\N	\N	EFO	3	EFO	measurement	BMI-adjusted leptin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007793	"leptin measurement that has been adjusted for subjects' body mass index " []	2028100	\N	\N	EFO	4	EFO	information entity	BMI-adjusted leptin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007793	"leptin measurement that has been adjusted for subjects' body mass index " []	3179382	\N	\N	EFO	5	EFO	experimental factor	BMI-adjusted leptin measurement
EFO:0007794	\N	\N	"quantification of the ratio of 3-trans-hydroxycotinine to cotinine in a sample, typically in a urine or blood sample" []	EFO:0007794	"quantification of the ratio of 3-trans-hydroxycotinine to cotinine in a sample, typically in a urine or blood sample" []	69032	\N	\N	EFO	0	EFO	nicotine metabolite ratio	nicotine metabolite ratio
EFO:0001444	EFO:0007794	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007794	"quantification of the ratio of 3-trans-hydroxycotinine to cotinine in a sample, typically in a urine or blood sample" []	211188	\N	\N	EFO	1	EFO	measurement	nicotine metabolite ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007794	"quantification of the ratio of 3-trans-hydroxycotinine to cotinine in a sample, typically in a urine or blood sample" []	564440	\N	\N	EFO	2	EFO	information entity	nicotine metabolite ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007794	"quantification of the ratio of 3-trans-hydroxycotinine to cotinine in a sample, typically in a urine or blood sample" []	1145616	\N	\N	EFO	3	EFO	experimental factor	nicotine metabolite ratio
EFO:0007795	\N	\N	"quantification of some aspect of anxiety disorder such as its presence or absence in an individual or its severity" []	EFO:0007795	"quantification of some aspect of anxiety disorder such as its presence or absence in an individual or its severity" []	69033	\N	\N	EFO	0	EFO	anxiety disorder measurement	anxiety disorder measurement
EFO:0006848	EFO:0007795	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007795	"quantification of some aspect of anxiety disorder such as its presence or absence in an individual or its severity" []	211189	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	anxiety disorder measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007795	"quantification of some aspect of anxiety disorder such as its presence or absence in an individual or its severity" []	564441	\N	\N	EFO	2	EFO	measurement	anxiety disorder measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007795	"quantification of some aspect of anxiety disorder such as its presence or absence in an individual or its severity" []	1145617	\N	\N	EFO	3	EFO	information entity	anxiety disorder measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007795	"quantification of some aspect of anxiety disorder such as its presence or absence in an individual or its severity" []	2028101	\N	\N	EFO	4	EFO	experimental factor	anxiety disorder measurement
EFO:0007796	\N	\N	"length of an individual's parents' life, either taken individually (paternal or maternal longevity) or in combination and sometimes used as an indicator of an individual longevity" []	EFO:0007796	"length of an individual's parents' life, either taken individually (paternal or maternal longevity) or in combination and sometimes used as an indicator of an individual longevity" []	69034	\N	\N	EFO	0	EFO	parental longevity	parental longevity
EFO:0004300	EFO:0007796	\N	"The  length of time of an organism's life." []	EFO:0007796	"length of an individual's parents' life, either taken individually (paternal or maternal longevity) or in combination and sometimes used as an indicator of an individual longevity" []	211190	\N	\N	EFO	1	EFO	longevity	parental longevity
EFO:0000719	EFO:0004300	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0007796	"length of an individual's parents' life, either taken individually (paternal or maternal longevity) or in combination and sometimes used as an indicator of an individual longevity" []	564442	\N	\N	EFO	2	EFO	temporal measurement	parental longevity
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007796	"length of an individual's parents' life, either taken individually (paternal or maternal longevity) or in combination and sometimes used as an indicator of an individual longevity" []	1145618	\N	\N	EFO	3	EFO	measurement	parental longevity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007796	"length of an individual's parents' life, either taken individually (paternal or maternal longevity) or in combination and sometimes used as an indicator of an individual longevity" []	2028102	\N	\N	EFO	4	EFO	information entity	parental longevity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007796	"length of an individual's parents' life, either taken individually (paternal or maternal longevity) or in combination and sometimes used as an indicator of an individual longevity" []	3179383	\N	\N	EFO	5	EFO	experimental factor	parental longevity
EFO:0007797	\N	\N	"quantification of some aspect of language or language development" []	EFO:0007797	"quantification of some aspect of language or language development" []	69035	\N	\N	EFO	0	EFO	language measurement	language measurement
EFO:0001444	EFO:0007797	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007797	"quantification of some aspect of language or language development" []	211191	\N	\N	EFO	1	EFO	measurement	language measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007797	"quantification of some aspect of language or language development" []	564443	\N	\N	EFO	2	EFO	information entity	language measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007797	"quantification of some aspect of language or language development" []	1145619	\N	\N	EFO	3	EFO	experimental factor	language measurement
EFO:0007798	\N	\N	"quantification of an individual's linguistic error rate, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	EFO:0007798	"quantification of an individual's linguistic error rate, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	69036	\N	\N	EFO	0	EFO	linguistic error measurement	linguistic error measurement
EFO:0006848	EFO:0007798	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007798	"quantification of an individual's linguistic error rate, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	211192	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	linguistic error measurement
EFO:0007797	EFO:0007798	\N	"quantification of some aspect of language or language development" []	EFO:0007798	"quantification of an individual's linguistic error rate, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	211193	\N	\N	EFO	1	EFO	language measurement	linguistic error measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007798	"quantification of an individual's linguistic error rate, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	564444	\N	\N	EFO	2	EFO	measurement	linguistic error measurement
EFO:0001444	EFO:0007797	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007798	"quantification of an individual's linguistic error rate, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	564445	\N	\N	EFO	2	EFO	measurement	linguistic error measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007798	"quantification of an individual's linguistic error rate, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	1145620	\N	\N	EFO	3	EFO	information entity	linguistic error measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007798	"quantification of an individual's linguistic error rate, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	2028103	\N	\N	EFO	4	EFO	experimental factor	linguistic error measurement
EFO:0007799	\N	\N	"quantification of an individual's ability to form syntactically complex language constructs, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	EFO:0007799	"quantification of an individual's ability to form syntactically complex language constructs, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	69037	\N	\N	EFO	0	EFO	syntactic complexity measurement	syntactic complexity measurement
EFO:0006848	EFO:0007799	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007799	"quantification of an individual's ability to form syntactically complex language constructs, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	211194	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	syntactic complexity measurement
EFO:0007797	EFO:0007799	\N	"quantification of some aspect of language or language development" []	EFO:0007799	"quantification of an individual's ability to form syntactically complex language constructs, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	211195	\N	\N	EFO	1	EFO	language measurement	syntactic complexity measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007799	"quantification of an individual's ability to form syntactically complex language constructs, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	564446	\N	\N	EFO	2	EFO	measurement	syntactic complexity measurement
EFO:0001444	EFO:0007797	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007799	"quantification of an individual's ability to form syntactically complex language constructs, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	564447	\N	\N	EFO	2	EFO	measurement	syntactic complexity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007799	"quantification of an individual's ability to form syntactically complex language constructs, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	1145621	\N	\N	EFO	3	EFO	information entity	syntactic complexity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007799	"quantification of an individual's ability to form syntactically complex language constructs, generally through the administration of standardised tests or the analysis of language samples by a specialist" []	2028104	\N	\N	EFO	4	EFO	experimental factor	syntactic complexity measurement
EFO:0007800	\N	\N	"Quantification of the amount of body fat as a percentage of total body mass, calculated as either total mass of fat divided by total body mass or one of a number of more complex weighted equations. Body fat includes essential body fat and storage body fat. " []	EFO:0007800	"Quantification of the amount of body fat as a percentage of total body mass, calculated as either total mass of fat divided by total body mass or one of a number of more complex weighted equations. Body fat includes essential body fat and storage body fat. " []	69038	\N	\N	EFO	0	EFO	body fat percentage	body fat percentage
EFO:0005106	EFO:0007800	\N	"measurement of the percentages of fat, bone and muscle in human bodies" []	EFO:0007800	"Quantification of the amount of body fat as a percentage of total body mass, calculated as either total mass of fat divided by total body mass or one of a number of more complex weighted equations. Body fat includes essential body fat and storage body fat. " []	211196	\N	\N	EFO	1	EFO	body composition measurement	body fat percentage
EFO:0004324	EFO:0005106	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0007800	"Quantification of the amount of body fat as a percentage of total body mass, calculated as either total mass of fat divided by total body mass or one of a number of more complex weighted equations. Body fat includes essential body fat and storage body fat. " []	564448	\N	\N	EFO	2	EFO	body weights and measures	body fat percentage
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0007800	"Quantification of the amount of body fat as a percentage of total body mass, calculated as either total mass of fat divided by total body mass or one of a number of more complex weighted equations. Body fat includes essential body fat and storage body fat. " []	1145622	\N	\N	EFO	3	EFO	anthropometric measurement	body fat percentage
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007800	"Quantification of the amount of body fat as a percentage of total body mass, calculated as either total mass of fat divided by total body mass or one of a number of more complex weighted equations. Body fat includes essential body fat and storage body fat. " []	2028105	\N	\N	EFO	4	EFO	measurement	body fat percentage
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007800	"Quantification of the amount of body fat as a percentage of total body mass, calculated as either total mass of fat divided by total body mass or one of a number of more complex weighted equations. Body fat includes essential body fat and storage body fat. " []	3179384	\N	\N	EFO	5	EFO	information entity	body fat percentage
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007800	"Quantification of the amount of body fat as a percentage of total body mass, calculated as either total mass of fat divided by total body mass or one of a number of more complex weighted equations. Body fat includes essential body fat and storage body fat. " []	4388748	\N	\N	EFO	6	EFO	experimental factor	body fat percentage
EFO:0007801	\N	\N	"quantification in a sample (eg blood) of lycopene, a bright red carotene and carotenoid pigment and phytochemical found in tomatoes and other red fruits and vegetables, such as red carrots, watermelons and papayas" []	EFO:0007801	"quantification in a sample (eg blood) of lycopene, a bright red carotene and carotenoid pigment and phytochemical found in tomatoes and other red fruits and vegetables, such as red carrots, watermelons and papayas" []	69039	\N	\N	EFO	0	EFO	lycopene measurement	lycopene measurement
EFO:0004737	EFO:0007801	\N	"Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations." []	EFO:0007801	"quantification in a sample (eg blood) of lycopene, a bright red carotene and carotenoid pigment and phytochemical found in tomatoes and other red fruits and vegetables, such as red carrots, watermelons and papayas" []	211197	\N	\N	EFO	1	EFO	carotenoid measurement	lycopene measurement
EFO:0001444	EFO:0004737	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007801	"quantification in a sample (eg blood) of lycopene, a bright red carotene and carotenoid pigment and phytochemical found in tomatoes and other red fruits and vegetables, such as red carrots, watermelons and papayas" []	564449	\N	\N	EFO	2	EFO	measurement	lycopene measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007801	"quantification in a sample (eg blood) of lycopene, a bright red carotene and carotenoid pigment and phytochemical found in tomatoes and other red fruits and vegetables, such as red carrots, watermelons and papayas" []	1145623	\N	\N	EFO	3	EFO	information entity	lycopene measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007801	"quantification in a sample (eg blood) of lycopene, a bright red carotene and carotenoid pigment and phytochemical found in tomatoes and other red fruits and vegetables, such as red carrots, watermelons and papayas" []	2028106	\N	\N	EFO	4	EFO	experimental factor	lycopene measurement
EFO:0007802	\N	\N	"quantification of some aspect of obsessive-compulsive symptoms, such as their existence and severity, usually via a standardised questionnaire or interview with a qualified mental health professional" []	EFO:0007802	"quantification of some aspect of obsessive-compulsive symptoms, such as their existence and severity, usually via a standardised questionnaire or interview with a qualified mental health professional" []	69040	\N	\N	EFO	0	EFO	obsessive-compulsive symptom measurement	obsessive-compulsive symptom measurement
EFO:0006848	EFO:0007802	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007802	"quantification of some aspect of obsessive-compulsive symptoms, such as their existence and severity, usually via a standardised questionnaire or interview with a qualified mental health professional" []	211198	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	obsessive-compulsive symptom measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007802	"quantification of some aspect of obsessive-compulsive symptoms, such as their existence and severity, usually via a standardised questionnaire or interview with a qualified mental health professional" []	564450	\N	\N	EFO	2	EFO	measurement	obsessive-compulsive symptom measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007802	"quantification of some aspect of obsessive-compulsive symptoms, such as their existence and severity, usually via a standardised questionnaire or interview with a qualified mental health professional" []	1145624	\N	\N	EFO	3	EFO	information entity	obsessive-compulsive symptom measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007802	"quantification of some aspect of obsessive-compulsive symptoms, such as their existence and severity, usually via a standardised questionnaire or interview with a qualified mental health professional" []	2028107	\N	\N	EFO	4	EFO	experimental factor	obsessive-compulsive symptom measurement
EFO:0007803	\N	\N	"quantification of some aspect of emotional problem symptoms, such as their existence and severity, usually via a standardised questionnaire such as the emotional symptoms subscale of the Strengths and Difficulties Questionnaire or interview with a qualified mental health professional" []	EFO:0007803	"quantification of some aspect of emotional problem symptoms, such as their existence and severity, usually via a standardised questionnaire such as the emotional symptoms subscale of the Strengths and Difficulties Questionnaire or interview with a qualified mental health professional" []	69041	\N	\N	EFO	0	EFO	emotional symptom measurement	emotional symptom measurement
EFO:0006848	EFO:0007803	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007803	"quantification of some aspect of emotional problem symptoms, such as their existence and severity, usually via a standardised questionnaire such as the emotional symptoms subscale of the Strengths and Difficulties Questionnaire or interview with a qualified mental health professional" []	211199	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	emotional symptom measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007803	"quantification of some aspect of emotional problem symptoms, such as their existence and severity, usually via a standardised questionnaire such as the emotional symptoms subscale of the Strengths and Difficulties Questionnaire or interview with a qualified mental health professional" []	564451	\N	\N	EFO	2	EFO	measurement	emotional symptom measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007803	"quantification of some aspect of emotional problem symptoms, such as their existence and severity, usually via a standardised questionnaire such as the emotional symptoms subscale of the Strengths and Difficulties Questionnaire or interview with a qualified mental health professional" []	1145625	\N	\N	EFO	3	EFO	information entity	emotional symptom measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007803	"quantification of some aspect of emotional problem symptoms, such as their existence and severity, usually via a standardised questionnaire such as the emotional symptoms subscale of the Strengths and Difficulties Questionnaire or interview with a qualified mental health professional" []	2028108	\N	\N	EFO	4	EFO	experimental factor	emotional symptom measurement
EFO:0007804	\N	\N	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	69042	\N	\N	EFO	0	EFO	LDL cholesterol change measurement	LDL cholesterol change measurement
EFO:0004611	EFO:0007804	\N	"The measurement of LDL cholesterol in blood used as a risk indicator for heart disease." []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	211200	\N	\N	EFO	1	EFO	low density lipoprotein cholesterol measurement	LDL cholesterol change measurement
EFO:0004529	EFO:0004611	\N	"A measure of circulating lipid" []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	564452	\N	\N	EFO	2	EFO	lipid measurement	LDL cholesterol change measurement
EFO:0004732	EFO:0004611	\N	"Is the quantification of some lipoprotein" []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	564453	\N	\N	EFO	2	EFO	lipoprotein measurement	LDL cholesterol change measurement
EFO:0005278	EFO:0004611	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	564454	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	LDL cholesterol change measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	1145626	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	LDL cholesterol change measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	1145627	\N	\N	EFO	3	EFO	protein measurement	LDL cholesterol change measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	1145628	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	LDL cholesterol change measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	1145629	\N	\N	EFO	3	EFO	cardiovascular measurement	LDL cholesterol change measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	2028109	\N	\N	EFO	4	EFO	measurement	LDL cholesterol change measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	2028110	\N	\N	EFO	4	EFO	measurement	LDL cholesterol change measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	2028111	\N	\N	EFO	4	EFO	measurement	LDL cholesterol change measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	3179385	\N	\N	EFO	5	EFO	information entity	LDL cholesterol change measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007804	"quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	4388749	\N	\N	EFO	6	EFO	experimental factor	LDL cholesterol change measurement
EFO:0007805	\N	\N	"quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	EFO:0007805	"quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	69043	\N	\N	EFO	0	EFO	HDL cholesterol change measurement	HDL cholesterol change measurement
EFO:0004612	EFO:0007805	\N	"The measurement of HDL cholesterol in blood used as a risk indicator for heart disease." []	EFO:0007805	"quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	211201	\N	\N	EFO	1	EFO	high density lipoprotein cholesterol measurement	HDL cholesterol change measurement
EFO:0004529	EFO:0004612	\N	"A measure of circulating lipid" []	EFO:0007805	"quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	564455	\N	\N	EFO	2	EFO	lipid measurement	HDL cholesterol change measurement
EFO:0004732	EFO:0004612	\N	"Is the quantification of some lipoprotein" []	EFO:0007805	"quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	564456	\N	\N	EFO	2	EFO	lipoprotein measurement	HDL cholesterol change measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007805	"quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	1145630	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	HDL cholesterol change measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007805	"quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	1145631	\N	\N	EFO	3	EFO	protein measurement	HDL cholesterol change measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0007805	"quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	1145632	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	HDL cholesterol change measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007805	"quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	2028112	\N	\N	EFO	4	EFO	measurement	HDL cholesterol change measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007805	"quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	2028113	\N	\N	EFO	4	EFO	measurement	HDL cholesterol change measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007805	"quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	3179386	\N	\N	EFO	5	EFO	information entity	HDL cholesterol change measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007805	"quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	4388750	\N	\N	EFO	6	EFO	experimental factor	HDL cholesterol change measurement
EFO:0007806	\N	\N	"quantification of the change in total cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	EFO:0007806	"quantification of the change in total cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	69044	\N	\N	EFO	0	EFO	total cholesterol change measurement	total cholesterol change measurement
EFO:0004574	EFO:0007806	\N	"A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL." []	EFO:0007806	"quantification of the change in total cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	211202	\N	\N	EFO	1	EFO	total cholesterol measurement	total cholesterol change measurement
EFO:0004732	EFO:0004574	\N	"Is the quantification of some lipoprotein" []	EFO:0007806	"quantification of the change in total cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	564457	\N	\N	EFO	2	EFO	lipoprotein measurement	total cholesterol change measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007806	"quantification of the change in total cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	1145633	\N	\N	EFO	3	EFO	protein measurement	total cholesterol change measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0007806	"quantification of the change in total cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	1145634	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	total cholesterol change measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007806	"quantification of the change in total cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	2028114	\N	\N	EFO	4	EFO	measurement	total cholesterol change measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007806	"quantification of the change in total cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	2028115	\N	\N	EFO	4	EFO	measurement	total cholesterol change measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007806	"quantification of the change in total cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	3179387	\N	\N	EFO	5	EFO	information entity	total cholesterol change measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007806	"quantification of the change in total cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug" []	4388751	\N	\N	EFO	6	EFO	experimental factor	total cholesterol change measurement
EFO:0007807	\N	\N	"Quantification of the amount of cadmium present in erythrocytes. Cadmium in erythrocytes is a valid biomarker of exposure and body burden of cadmium, a non-essential toxic metal with multiple adverse health effects" []	EFO:0007807	"Quantification of the amount of cadmium present in erythrocytes. Cadmium in erythrocytes is a valid biomarker of exposure and body burden of cadmium, a non-essential toxic metal with multiple adverse health effects" []	69045	\N	\N	EFO	0	EFO	erythrocyte cadmium measurement	erythrocyte cadmium measurement
EFO:0001444	EFO:0007807	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007807	"Quantification of the amount of cadmium present in erythrocytes. Cadmium in erythrocytes is a valid biomarker of exposure and body burden of cadmium, a non-essential toxic metal with multiple adverse health effects" []	211203	\N	\N	EFO	1	EFO	measurement	erythrocyte cadmium measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007807	"Quantification of the amount of cadmium present in erythrocytes. Cadmium in erythrocytes is a valid biomarker of exposure and body burden of cadmium, a non-essential toxic metal with multiple adverse health effects" []	564458	\N	\N	EFO	2	EFO	information entity	erythrocyte cadmium measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007807	"Quantification of the amount of cadmium present in erythrocytes. Cadmium in erythrocytes is a valid biomarker of exposure and body burden of cadmium, a non-essential toxic metal with multiple adverse health effects" []	1145635	\N	\N	EFO	3	EFO	experimental factor	erythrocyte cadmium measurement
EFO:0007808	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bortezomib stimulus. Bortezomib is a therapeutic proteasome inhibitor approved for treating relapsed multiple myeloma and mantle cell lymphoma." []	EFO:0007808	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bortezomib stimulus. Bortezomib is a therapeutic proteasome inhibitor approved for treating relapsed multiple myeloma and mantle cell lymphoma." []	69046	\N	\N	EFO	0	EFO	response to bortezomib	response to bortezomib
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0007808	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bortezomib stimulus. Bortezomib is a therapeutic proteasome inhibitor approved for treating relapsed multiple myeloma and mantle cell lymphoma." []	194903	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to bortezomib
EFO:0007809	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a flupirtine stimulus. Flupirtine is an aminopyridine that functions as a centrally acting non-opioid analgesic that was originally used as an analgesic for acute and chronic pain but due to issues with liver toxicity, the European Medicines Agency restricted its use to acute pain, for no more than two weeks, and only for people who cannot use other painkillers" []	EFO:0007809	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a flupirtine stimulus. Flupirtine is an aminopyridine that functions as a centrally acting non-opioid analgesic that was originally used as an analgesic for acute and chronic pain but due to issues with liver toxicity, the European Medicines Agency restricted its use to acute pain, for no more than two weeks, and only for people who cannot use other painkillers" []	69047	\N	\N	EFO	0	EFO	response to flupirtine	response to flupirtine
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007809	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a flupirtine stimulus. Flupirtine is an aminopyridine that functions as a centrally acting non-opioid analgesic that was originally used as an analgesic for acute and chronic pain but due to issues with liver toxicity, the European Medicines Agency restricted its use to acute pain, for no more than two weeks, and only for people who cannot use other painkillers" []	194904	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to flupirtine
EFO:0007810	\N	\N	"measurement of the IgG1 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	EFO:0007810	"measurement of the IgG1 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	69048	\N	\N	EFO	0	EFO	Plasmodium falciparum antigen IgG1 measurement	Plasmodium falciparum antigen IgG1 measurement
EFO:0007812	EFO:0007810	\N	"measurement of the IgG antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	EFO:0007810	"measurement of the IgG1 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	211204	\N	\N	EFO	1	EFO	Plasmodium falciparum antigen IgG measurement	Plasmodium falciparum antigen IgG1 measurement
EFO:0004565	EFO:0007812	\N	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	EFO:0007810	"measurement of the IgG1 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	564459	\N	\N	EFO	2	EFO	serum IgG measurement	Plasmodium falciparum antigen IgG1 measurement
EFO:0004556	EFO:0004565	\N	"Is the quantification of some antibody" []	EFO:0007810	"measurement of the IgG1 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	1145636	\N	\N	EFO	3	EFO	antibody measurement	Plasmodium falciparum antigen IgG1 measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007810	"measurement of the IgG1 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	2028116	\N	\N	EFO	4	EFO	measurement	Plasmodium falciparum antigen IgG1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007810	"measurement of the IgG1 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	3179388	\N	\N	EFO	5	EFO	information entity	Plasmodium falciparum antigen IgG1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007810	"measurement of the IgG1 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	4388752	\N	\N	EFO	6	EFO	experimental factor	Plasmodium falciparum antigen IgG1 measurement
EFO:0007811	\N	\N	"measurement of the IgG3 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	EFO:0007811	"measurement of the IgG3 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	69049	\N	\N	EFO	0	EFO	Plasmodium falciparum antigen IgG3 measurement	Plasmodium falciparum antigen IgG3 measurement
EFO:0007812	EFO:0007811	\N	"measurement of the IgG antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	EFO:0007811	"measurement of the IgG3 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	211205	\N	\N	EFO	1	EFO	Plasmodium falciparum antigen IgG measurement	Plasmodium falciparum antigen IgG3 measurement
EFO:0004565	EFO:0007812	\N	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	EFO:0007811	"measurement of the IgG3 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	564460	\N	\N	EFO	2	EFO	serum IgG measurement	Plasmodium falciparum antigen IgG3 measurement
EFO:0004556	EFO:0004565	\N	"Is the quantification of some antibody" []	EFO:0007811	"measurement of the IgG3 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	1145637	\N	\N	EFO	3	EFO	antibody measurement	Plasmodium falciparum antigen IgG3 measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007811	"measurement of the IgG3 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	2028117	\N	\N	EFO	4	EFO	measurement	Plasmodium falciparum antigen IgG3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007811	"measurement of the IgG3 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	3179389	\N	\N	EFO	5	EFO	information entity	Plasmodium falciparum antigen IgG3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007811	"measurement of the IgG3 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	4388753	\N	\N	EFO	6	EFO	experimental factor	Plasmodium falciparum antigen IgG3 measurement
EFO:0007812	\N	\N	"measurement of the IgG antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	EFO:0007812	"measurement of the IgG antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	69050	\N	\N	EFO	0	EFO	Plasmodium falciparum antigen IgG measurement	Plasmodium falciparum antigen IgG measurement
EFO:0004565	EFO:0007812	\N	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	EFO:0007812	"measurement of the IgG antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	211206	\N	\N	EFO	1	EFO	serum IgG measurement	Plasmodium falciparum antigen IgG measurement
EFO:0004556	EFO:0004565	\N	"Is the quantification of some antibody" []	EFO:0007812	"measurement of the IgG antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	564461	\N	\N	EFO	2	EFO	antibody measurement	Plasmodium falciparum antigen IgG measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007812	"measurement of the IgG antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	1145638	\N	\N	EFO	3	EFO	measurement	Plasmodium falciparum antigen IgG measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007812	"measurement of the IgG antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	2028118	\N	\N	EFO	4	EFO	information entity	Plasmodium falciparum antigen IgG measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007812	"measurement of the IgG antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection" []	3179390	\N	\N	EFO	5	EFO	experimental factor	Plasmodium falciparum antigen IgG measurement
EFO:0007813	\N	\N	"quantification of cotinine in a sample" []	EFO:0007813	"quantification of cotinine in a sample" []	69051	\N	\N	EFO	0	EFO	cotinine measurement	cotinine measurement
EFO:0001444	EFO:0007813	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007813	"quantification of cotinine in a sample" []	211207	\N	\N	EFO	1	EFO	measurement	cotinine measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007813	"quantification of cotinine in a sample" []	564462	\N	\N	EFO	2	EFO	information entity	cotinine measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007813	"quantification of cotinine in a sample" []	1145639	\N	\N	EFO	3	EFO	experimental factor	cotinine measurement
EFO:0007814	\N	\N	"quantification of some aspect of refractive errors, which occur when the shape of the eye prevents light from focusing directly on the retina. The length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens can cause refractive errors. Quantification of an individual's refractive error allows the establishemnt of a number of corrective parameters such as spherical equivalent, lens decentration and transposition" []	EFO:0007814	"quantification of some aspect of refractive errors, which occur when the shape of the eye prevents light from focusing directly on the retina. The length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens can cause refractive errors. Quantification of an individual's refractive error allows the establishemnt of a number of corrective parameters such as spherical equivalent, lens decentration and transposition" []	69052	\N	\N	EFO	0	EFO	refractive error measurement	refractive error measurement
EFO:0004731	EFO:0007814	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0007814	"quantification of some aspect of refractive errors, which occur when the shape of the eye prevents light from focusing directly on the retina. The length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens can cause refractive errors. Quantification of an individual's refractive error allows the establishemnt of a number of corrective parameters such as spherical equivalent, lens decentration and transposition" []	211208	\N	\N	EFO	1	EFO	eye measurement	refractive error measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007814	"quantification of some aspect of refractive errors, which occur when the shape of the eye prevents light from focusing directly on the retina. The length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens can cause refractive errors. Quantification of an individual's refractive error allows the establishemnt of a number of corrective parameters such as spherical equivalent, lens decentration and transposition" []	564463	\N	\N	EFO	2	EFO	measurement	refractive error measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007814	"quantification of some aspect of refractive errors, which occur when the shape of the eye prevents light from focusing directly on the retina. The length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens can cause refractive errors. Quantification of an individual's refractive error allows the establishemnt of a number of corrective parameters such as spherical equivalent, lens decentration and transposition" []	1145640	\N	\N	EFO	3	EFO	information entity	refractive error measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007814	"quantification of some aspect of refractive errors, which occur when the shape of the eye prevents light from focusing directly on the retina. The length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens can cause refractive errors. Quantification of an individual's refractive error allows the establishemnt of a number of corrective parameters such as spherical equivalent, lens decentration and transposition" []	2028119	\N	\N	EFO	4	EFO	experimental factor	refractive error measurement
EFO:0007815	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dabrafenib stimulus." []	EFO:0007815	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dabrafenib stimulus." []	69053	\N	\N	EFO	0	EFO	response to dabrafenib	response to dabrafenib
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0007815	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dabrafenib stimulus." []	194905	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to dabrafenib
EFO:0007816	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a trametinib stimulus." []	EFO:0007816	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a trametinib stimulus." []	69054	\N	\N	EFO	0	EFO	response to trametinib	response to trametinib
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0007816	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a trametinib stimulus." []	194906	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to trametinib
EFO:0007817	\N	\N	"quantification of some aspect of obstructive sleep apnea, such as oxygen desaturation levels during an apnea event or severity, duration or frequency of apnea events" []	EFO:0007817	"quantification of some aspect of obstructive sleep apnea, such as oxygen desaturation levels during an apnea event or severity, duration or frequency of apnea events" []	69055	\N	\N	EFO	0	EFO	sleep apnea measurement	sleep apnea measurement
EFO:0001444	EFO:0007817	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007817	"quantification of some aspect of obstructive sleep apnea, such as oxygen desaturation levels during an apnea event or severity, duration or frequency of apnea events" []	211209	\N	\N	EFO	1	EFO	measurement	sleep apnea measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007817	"quantification of some aspect of obstructive sleep apnea, such as oxygen desaturation levels during an apnea event or severity, duration or frequency of apnea events" []	564464	\N	\N	EFO	2	EFO	information entity	sleep apnea measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007817	"quantification of some aspect of obstructive sleep apnea, such as oxygen desaturation levels during an apnea event or severity, duration or frequency of apnea events" []	1145641	\N	\N	EFO	3	EFO	experimental factor	sleep apnea measurement
EFO:0007818	\N	\N	"quantification of some aspect of athletic endurance " []	EFO:0007818	"quantification of some aspect of athletic endurance " []	69056	\N	\N	EFO	0	EFO	athletic endurance measurement	athletic endurance measurement
EFO:0001444	EFO:0007818	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007818	"quantification of some aspect of athletic endurance " []	211210	\N	\N	EFO	1	EFO	measurement	athletic endurance measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007818	"quantification of some aspect of athletic endurance " []	564465	\N	\N	EFO	2	EFO	information entity	athletic endurance measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007818	"quantification of some aspect of athletic endurance " []	1145642	\N	\N	EFO	3	EFO	experimental factor	athletic endurance measurement
EFO:0007819	\N	\N	"quantification in a sample of advanced glycation end-products (AGEs), a diverse group of molecules produced by the non-enzymatic addition of glucose to proteins, lipids, and nucleic acids, possibly associated with hyperglycemia and diabetic complications" []	EFO:0007819	"quantification in a sample of advanced glycation end-products (AGEs), a diverse group of molecules produced by the non-enzymatic addition of glucose to proteins, lipids, and nucleic acids, possibly associated with hyperglycemia and diabetic complications" []	69057	\N	\N	EFO	0	EFO	advanced glycation end-product measurement	advanced glycation end-product measurement
EFO:0001444	EFO:0007819	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007819	"quantification in a sample of advanced glycation end-products (AGEs), a diverse group of molecules produced by the non-enzymatic addition of glucose to proteins, lipids, and nucleic acids, possibly associated with hyperglycemia and diabetic complications" []	211211	\N	\N	EFO	1	EFO	measurement	advanced glycation end-product measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007819	"quantification in a sample of advanced glycation end-products (AGEs), a diverse group of molecules produced by the non-enzymatic addition of glucose to proteins, lipids, and nucleic acids, possibly associated with hyperglycemia and diabetic complications" []	564466	\N	\N	EFO	2	EFO	information entity	advanced glycation end-product measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007819	"quantification in a sample of advanced glycation end-products (AGEs), a diverse group of molecules produced by the non-enzymatic addition of glucose to proteins, lipids, and nucleic acids, possibly associated with hyperglycemia and diabetic complications" []	1145643	\N	\N	EFO	3	EFO	experimental factor	advanced glycation end-product measurement
EFO:0007820	\N	\N	"CBT is a psychosocial intervention that is the most widely used evidence-based practice for treating mental disorders. Guided by empirical research, CBT focuses on the development of personal coping strategies that target solving current problems and changing unhelpful patterns in cognitions (e.g., thoughts, beliefs, and attitudes), behaviors, and emotional regulation. It was originally designed to treat depression, and is now used for a number of mental health conditions." []	EFO:0007820	"CBT is a psychosocial intervention that is the most widely used evidence-based practice for treating mental disorders. Guided by empirical research, CBT focuses on the development of personal coping strategies that target solving current problems and changing unhelpful patterns in cognitions (e.g., thoughts, beliefs, and attitudes), behaviors, and emotional regulation. It was originally designed to treat depression, and is now used for a number of mental health conditions." []	69058	\N	\N	EFO	0	EFO	cognitive behavioural therapy	cognitive behavioural therapy
EFO:0000727	EFO:0007820	\N	"A process in which the act is intended to modify or alter some other material entity," []	EFO:0007820	"CBT is a psychosocial intervention that is the most widely used evidence-based practice for treating mental disorders. Guided by empirical research, CBT focuses on the development of personal coping strategies that target solving current problems and changing unhelpful patterns in cognitions (e.g., thoughts, beliefs, and attitudes), behaviors, and emotional regulation. It was originally designed to treat depression, and is now used for a number of mental health conditions." []	211212	\N	\N	EFO	1	EFO	treatment	cognitive behavioural therapy
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007820	"CBT is a psychosocial intervention that is the most widely used evidence-based practice for treating mental disorders. Guided by empirical research, CBT focuses on the development of personal coping strategies that target solving current problems and changing unhelpful patterns in cognitions (e.g., thoughts, beliefs, and attitudes), behaviors, and emotional regulation. It was originally designed to treat depression, and is now used for a number of mental health conditions." []	564467	\N	\N	EFO	2	EFO	experimental process	cognitive behavioural therapy
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007820	"CBT is a psychosocial intervention that is the most widely used evidence-based practice for treating mental disorders. Guided by empirical research, CBT focuses on the development of personal coping strategies that target solving current problems and changing unhelpful patterns in cognitions (e.g., thoughts, beliefs, and attitudes), behaviors, and emotional regulation. It was originally designed to treat depression, and is now used for a number of mental health conditions." []	1145644	\N	\N	EFO	3	EFO	planned process	cognitive behavioural therapy
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007820	"CBT is a psychosocial intervention that is the most widely used evidence-based practice for treating mental disorders. Guided by empirical research, CBT focuses on the development of personal coping strategies that target solving current problems and changing unhelpful patterns in cognitions (e.g., thoughts, beliefs, and attitudes), behaviors, and emotional regulation. It was originally designed to treat depression, and is now used for a number of mental health conditions." []	2028120	\N	\N	EFO	4	EFO	process	cognitive behavioural therapy
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007820	"CBT is a psychosocial intervention that is the most widely used evidence-based practice for treating mental disorders. Guided by empirical research, CBT focuses on the development of personal coping strategies that target solving current problems and changing unhelpful patterns in cognitions (e.g., thoughts, beliefs, and attitudes), behaviors, and emotional regulation. It was originally designed to treat depression, and is now used for a number of mental health conditions." []	3179391	\N	\N	EFO	5	EFO	experimental factor	cognitive behavioural therapy
EFO:0007821	\N	\N	"quantification of some aspect of hair morphology such as hair density, colour, thickness or growth pattern" []	EFO:0007821	"quantification of some aspect of hair morphology such as hair density, colour, thickness or growth pattern" []	69059	\N	\N	EFO	0	EFO	hair morphology measurement	hair morphology measurement
EFO:0001444	EFO:0007821	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007821	"quantification of some aspect of hair morphology such as hair density, colour, thickness or growth pattern" []	211213	\N	\N	EFO	1	EFO	measurement	hair morphology measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007821	"quantification of some aspect of hair morphology such as hair density, colour, thickness or growth pattern" []	564468	\N	\N	EFO	2	EFO	information entity	hair morphology measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007821	"quantification of some aspect of hair morphology such as hair density, colour, thickness or growth pattern" []	1145645	\N	\N	EFO	3	EFO	experimental factor	hair morphology measurement
EFO:0007822	\N	\N	"quantification of some aspect of hair colour, such as whether greying occurs, how advanced greying is or qualification to what colour family hair belongs" []	EFO:0007822	"quantification of some aspect of hair colour, such as whether greying occurs, how advanced greying is or qualification to what colour family hair belongs" []	69060	\N	\N	EFO	0	EFO	hair colour measurement	hair colour measurement
EFO:0007821	EFO:0007822	\N	"quantification of some aspect of hair morphology such as hair density, colour, thickness or growth pattern" []	EFO:0007822	"quantification of some aspect of hair colour, such as whether greying occurs, how advanced greying is or qualification to what colour family hair belongs" []	211214	\N	\N	EFO	1	EFO	hair morphology measurement	hair colour measurement
EFO:0001444	EFO:0007821	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007822	"quantification of some aspect of hair colour, such as whether greying occurs, how advanced greying is or qualification to what colour family hair belongs" []	564469	\N	\N	EFO	2	EFO	measurement	hair colour measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007822	"quantification of some aspect of hair colour, such as whether greying occurs, how advanced greying is or qualification to what colour family hair belongs" []	1145646	\N	\N	EFO	3	EFO	information entity	hair colour measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007822	"quantification of some aspect of hair colour, such as whether greying occurs, how advanced greying is or qualification to what colour family hair belongs" []	2028121	\N	\N	EFO	4	EFO	experimental factor	hair colour measurement
EFO:0007823	\N	\N	"quantification of the thickness or density of facial air, including beards and eyebrows" []	EFO:0007823	"quantification of the thickness or density of facial air, including beards and eyebrows" []	69061	\N	\N	EFO	0	EFO	facial hair thickness measurement	facial hair thickness measurement
EFO:0007821	EFO:0007823	\N	"quantification of some aspect of hair morphology such as hair density, colour, thickness or growth pattern" []	EFO:0007823	"quantification of the thickness or density of facial air, including beards and eyebrows" []	211215	\N	\N	EFO	1	EFO	hair morphology measurement	facial hair thickness measurement
EFO:0001444	EFO:0007821	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007823	"quantification of the thickness or density of facial air, including beards and eyebrows" []	564470	\N	\N	EFO	2	EFO	measurement	facial hair thickness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007823	"quantification of the thickness or density of facial air, including beards and eyebrows" []	1145647	\N	\N	EFO	3	EFO	information entity	facial hair thickness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007823	"quantification of the thickness or density of facial air, including beards and eyebrows" []	2028122	\N	\N	EFO	4	EFO	experimental factor	facial hair thickness measurement
EFO:0007824	\N	\N	"quantification of some aspect of hair shape, eg whether it is curly or straight" []	EFO:0007824	"quantification of some aspect of hair shape, eg whether it is curly or straight" []	69062	\N	\N	EFO	0	EFO	hair shape measurement	hair shape measurement
EFO:0007821	EFO:0007824	\N	"quantification of some aspect of hair morphology such as hair density, colour, thickness or growth pattern" []	EFO:0007824	"quantification of some aspect of hair shape, eg whether it is curly or straight" []	211216	\N	\N	EFO	1	EFO	hair morphology measurement	hair shape measurement
EFO:0001444	EFO:0007821	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007824	"quantification of some aspect of hair shape, eg whether it is curly or straight" []	564471	\N	\N	EFO	2	EFO	measurement	hair shape measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007824	"quantification of some aspect of hair shape, eg whether it is curly or straight" []	1145648	\N	\N	EFO	3	EFO	information entity	hair shape measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007824	"quantification of some aspect of hair shape, eg whether it is curly or straight" []	2028123	\N	\N	EFO	4	EFO	experimental factor	hair shape measurement
EFO:0007825	\N	\N	"quantification of the amount of balding in an individual" []	EFO:0007825	"quantification of the amount of balding in an individual" []	69063	\N	\N	EFO	0	EFO	balding measurement	balding measurement
EFO:0007821	EFO:0007825	\N	"quantification of some aspect of hair morphology such as hair density, colour, thickness or growth pattern" []	EFO:0007825	"quantification of the amount of balding in an individual" []	211217	\N	\N	EFO	1	EFO	hair morphology measurement	balding measurement
EFO:0001444	EFO:0007821	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007825	"quantification of the amount of balding in an individual" []	564472	\N	\N	EFO	2	EFO	measurement	balding measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007825	"quantification of the amount of balding in an individual" []	1145649	\N	\N	EFO	3	EFO	information entity	balding measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007825	"quantification of the amount of balding in an individual" []	2028124	\N	\N	EFO	4	EFO	experimental factor	balding measurement
EFO:0007826	\N	\N	"quantification of some aspect of aggressive behaviour" []	EFO:0007826	"quantification of some aspect of aggressive behaviour" []	69064	\N	\N	EFO	0	EFO	aggressive behaviour measurement	aggressive behaviour measurement
EFO:0001444	EFO:0007826	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007826	"quantification of some aspect of aggressive behaviour" []	211218	\N	\N	EFO	1	EFO	measurement	aggressive behaviour measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007826	"quantification of some aspect of aggressive behaviour" []	564473	\N	\N	EFO	2	EFO	information entity	aggressive behaviour measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007826	"quantification of some aspect of aggressive behaviour" []	1145650	\N	\N	EFO	3	EFO	experimental factor	aggressive behaviour measurement
EFO:0007827	\N	\N	"quantification of some aspect of nighttime rest such as duration or quality" []	EFO:0007827	"quantification of some aspect of nighttime rest such as duration or quality" []	69065	\N	\N	EFO	0	EFO	nighttime rest measurement	nighttime rest measurement
EFO:0004870	EFO:0007827	\N	"Is a quantification of some sleep parameter." []	EFO:0007827	"quantification of some aspect of nighttime rest such as duration or quality" []	211219	\N	\N	EFO	1	EFO	sleep measurement	nighttime rest measurement
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007827	"quantification of some aspect of nighttime rest such as duration or quality" []	564474	\N	\N	EFO	2	EFO	measurement	nighttime rest measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007827	"quantification of some aspect of nighttime rest such as duration or quality" []	1145651	\N	\N	EFO	3	EFO	information entity	nighttime rest measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007827	"quantification of some aspect of nighttime rest such as duration or quality" []	2028125	\N	\N	EFO	4	EFO	experimental factor	nighttime rest measurement
EFO:0007828	\N	\N	"quantification of some aspect of daytime rest such as duration, frequency or quality" []	EFO:0007828	"quantification of some aspect of daytime rest such as duration, frequency or quality" []	69066	\N	\N	EFO	0	EFO	daytime rest measurement	daytime rest measurement
EFO:0004870	EFO:0007828	\N	"Is a quantification of some sleep parameter." []	EFO:0007828	"quantification of some aspect of daytime rest such as duration, frequency or quality" []	211220	\N	\N	EFO	1	EFO	sleep measurement	daytime rest measurement
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007828	"quantification of some aspect of daytime rest such as duration, frequency or quality" []	564475	\N	\N	EFO	2	EFO	measurement	daytime rest measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007828	"quantification of some aspect of daytime rest such as duration, frequency or quality" []	1145652	\N	\N	EFO	3	EFO	information entity	daytime rest measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007828	"quantification of some aspect of daytime rest such as duration, frequency or quality" []	2028126	\N	\N	EFO	4	EFO	experimental factor	daytime rest measurement
EFO:0007829	\N	\N	"Behaviors associated with the ingesting of food; includes rhythmic patterns of eating (time intervals - onset and duration), frequency and satiety as well as the types of food chosen" []	EFO:0007829	"Behaviors associated with the ingesting of food; includes rhythmic patterns of eating (time intervals - onset and duration), frequency and satiety as well as the types of food chosen" []	69067	\N	\N	EFO	0	EFO	eating behaviour	eating behaviour
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:0007829	"Behaviors associated with the ingesting of food; includes rhythmic patterns of eating (time intervals - onset and duration), frequency and satiety as well as the types of food chosen" []	194907	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	eating behaviour
EFO:0007830	\N	\N	"quantification of some aspect of food addiction such as presence or absence or severity of symptoms, usually assessed through a standarised questionnaire or structured interview with a mental health professional" []	EFO:0007830	"quantification of some aspect of food addiction such as presence or absence or severity of symptoms, usually assessed through a standarised questionnaire or structured interview with a mental health professional" []	69068	\N	\N	EFO	0	EFO	food addiction measurement	food addiction measurement
EFO:0006848	EFO:0007830	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007830	"quantification of some aspect of food addiction such as presence or absence or severity of symptoms, usually assessed through a standarised questionnaire or structured interview with a mental health professional" []	211221	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	food addiction measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007830	"quantification of some aspect of food addiction such as presence or absence or severity of symptoms, usually assessed through a standarised questionnaire or structured interview with a mental health professional" []	564476	\N	\N	EFO	2	EFO	measurement	food addiction measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007830	"quantification of some aspect of food addiction such as presence or absence or severity of symptoms, usually assessed through a standarised questionnaire or structured interview with a mental health professional" []	1145653	\N	\N	EFO	3	EFO	information entity	food addiction measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007830	"quantification of some aspect of food addiction such as presence or absence or severity of symptoms, usually assessed through a standarised questionnaire or structured interview with a mental health professional" []	2028127	\N	\N	EFO	4	EFO	experimental factor	food addiction measurement
EFO:0007831	\N	\N	"a sample specimen consisting of exactly 1 cell" []	EFO:0007831	"a sample specimen consisting of exactly 1 cell" []	69069	\N	\N	EFO	0	EFO	single cell specimen	single cell specimen
OBI:0001468	EFO:0007831	\N	"A specimen primarily composed of cells collected from a multicellular organism or a cell culture" []	EFO:0007831	"a sample specimen consisting of exactly 1 cell" []	211222	\N	\N	EFO	1	EFO	cell specimen	single cell specimen
OBI:0100051	OBI:0001468	\N	"A material which is obtained and stored for potential use during an investigation." []	EFO:0007831	"a sample specimen consisting of exactly 1 cell" []	564477	\N	\N	EFO	2	EFO	specimen	single cell specimen
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007831	"a sample specimen consisting of exactly 1 cell" []	1145654	\N	\N	EFO	3	EFO	material entity	single cell specimen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007831	"a sample specimen consisting of exactly 1 cell" []	2028128	\N	\N	EFO	4	EFO	experimental factor	single cell specimen
EFO:0007832	\N	\N	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	69070	\N	\N	EFO	0	EFO	single cell sequencing	single cell sequencing
EFO:0002770	EFO:0007832	\N	"A method used to assess the transcriptome of a biological sample using a high-throughput sequencing platform." []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	211223	\N	\N	EFO	1	EFO	transcription profiling by high throughput sequencing	single cell sequencing
EFO:0001032	EFO:0002770	\N	"An assay in which the transcriptome of a biological sample is analysed." []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	564478	\N	\N	EFO	2	EFO	transcription profiling	single cell sequencing
EFO:0001457	EFO:0002770	\N	"An assay with input RNA" []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	564479	\N	\N	EFO	2	EFO	RNA assay	single cell sequencing
EFO:0002697	EFO:0002770	\N	"An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids" []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	564480	\N	\N	EFO	2	EFO	assay by high throughput sequencer	single cell sequencing
EFO:0004120	EFO:0002770	\N	"Experiment type permitted specifically in ArrayExpress" []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	564481	\N	\N	EFO	2	EFO	ArrayExpress experiment type	single cell sequencing
EFO:0002694	EFO:0001032	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	1145655	\N	\N	EFO	3	EFO	experimental process	single cell sequencing
EFO:0002772	EFO:0001457	\N	"" []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	1145656	\N	\N	EFO	3	EFO	assay by molecule	single cell sequencing
EFO:0003740	EFO:0002697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	1145657	\N	\N	EFO	3	EFO	assay by sequencer	single cell sequencing
EFO:0002694	EFO:0004120	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	1145658	\N	\N	EFO	3	EFO	experimental process	single cell sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	5181073	\N	\N	EFO	7	EFO	planned process	single cell sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	2028130	\N	\N	EFO	4	EFO	assay	single cell sequencing
EFO:0002773	EFO:0003740	\N	"" []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	2028131	\N	\N	EFO	4	EFO	assay by instrument	single cell sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	5817375	\N	\N	EFO	8	EFO	process	single cell sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	4388756	\N	\N	EFO	6	EFO	experimental process	single cell sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	3179394	\N	\N	EFO	5	EFO	assay	single cell sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007832	"Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment." []	6409754	\N	\N	EFO	9	EFO	experimental factor	single cell sequencing
EFO:0007833	\N	\N	"C3H/HeOuJ mice are used as a general purpose strain in a wide variety of research areas including cancer and sensorineural, research. C3H/HeOuJ mice and all other C3H substrains at The Jackson Laboratory are homozygous for the retinal degeneration 1 mutation (Pde6brd1), causing blindness by weaning age. There is also a high incidence of hepatomas in C3H mice. This strain does not carry mouse mammary tumor virus (MMTV), but virgin and breeding females may still develop some mammary tumors later in life. " []	EFO:0007833	"C3H/HeOuJ mice are used as a general purpose strain in a wide variety of research areas including cancer and sensorineural, research. C3H/HeOuJ mice and all other C3H substrains at The Jackson Laboratory are homozygous for the retinal degeneration 1 mutation (Pde6brd1), causing blindness by weaning age. There is also a high incidence of hepatomas in C3H mice. This strain does not carry mouse mammary tumor virus (MMTV), but virgin and breeding females may still develop some mammary tumors later in life. " []	69071	\N	\N	EFO	0	EFO	C3H/HeOuJ	C3H/HeOuJ
NCBITaxon:10090	\N	\N	"" []	EFO:0007833	"C3H/HeOuJ mice are used as a general purpose strain in a wide variety of research areas including cancer and sensorineural, research. C3H/HeOuJ mice and all other C3H substrains at The Jackson Laboratory are homozygous for the retinal degeneration 1 mutation (Pde6brd1), causing blindness by weaning age. There is also a high incidence of hepatomas in C3H mice. This strain does not carry mouse mammary tumor virus (MMTV), but virgin and breeding females may still develop some mammary tumors later in life. " []	194908	\N	\N	EFO	0	EFO	Mus musculus	C3H/HeOuJ
EFO:0007834	\N	\N	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	69072	\N	\N	EFO	0	EFO	liver dysplastic nodule	liver dysplastic nodule
EFO:1001513	EFO:0007834	\N	"Tumors or cancers of the LIVER." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	211224	\N	\N	EFO	1	EFO	liver neoplasm	liver dysplastic nodule
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	564482	\N	\N	EFO	2	EFO	liver disease	liver dysplastic nodule
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	564483	\N	\N	EFO	2	EFO	endocrine neoplasm	liver dysplastic nodule
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	1145659	\N	\N	EFO	3	EFO	digestive system disease	liver dysplastic nodule
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	1145660	\N	\N	EFO	3	EFO	endocrine system disease	liver dysplastic nodule
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	1145661	\N	\N	EFO	3	EFO	neoplasm	liver dysplastic nodule
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	1145662	\N	\N	EFO	3	EFO	endocrine system disease	liver dysplastic nodule
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	2028132	\N	\N	EFO	4	EFO	disease	liver dysplastic nodule
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	2028133	\N	\N	EFO	4	EFO	disease	liver dysplastic nodule
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	2028134	\N	\N	EFO	4	EFO	disease	liver dysplastic nodule
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	3179395	\N	\N	EFO	5	EFO	disposition	liver dysplastic nodule
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	4388757	\N	\N	EFO	6	EFO	material property	liver dysplastic nodule
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007834	"A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. " []	5408977	\N	\N	EFO	7	EFO	experimental factor	liver dysplastic nodule
EFO:0007835	\N	\N	"quantification of some aspect of alcohol dependence or misuse, eg using a cummulative symptom score to determine the severity of a case of alcohol dependence" []	EFO:0007835	"quantification of some aspect of alcohol dependence or misuse, eg using a cummulative symptom score to determine the severity of a case of alcohol dependence" []	69073	\N	\N	EFO	0	EFO	alcohol dependence measurement	alcohol dependence measurement
EFO:0006848	EFO:0007835	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007835	"quantification of some aspect of alcohol dependence or misuse, eg using a cummulative symptom score to determine the severity of a case of alcohol dependence" []	211225	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	alcohol dependence measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007835	"quantification of some aspect of alcohol dependence or misuse, eg using a cummulative symptom score to determine the severity of a case of alcohol dependence" []	564484	\N	\N	EFO	2	EFO	measurement	alcohol dependence measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007835	"quantification of some aspect of alcohol dependence or misuse, eg using a cummulative symptom score to determine the severity of a case of alcohol dependence" []	1145663	\N	\N	EFO	3	EFO	information entity	alcohol dependence measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007835	"quantification of some aspect of alcohol dependence or misuse, eg using a cummulative symptom score to determine the severity of a case of alcohol dependence" []	2028135	\N	\N	EFO	4	EFO	experimental factor	alcohol dependence measurement
EFO:0007836	\N	\N	"quantification in a sample of the amount of coenzyme Q10, a lipophilic redox molecule that is present in membranes of almost all cells in human tissues, is essential for the respiratory transport chain and is a modulator of inflammatory processes and gene expression" []	EFO:0007836	"quantification in a sample of the amount of coenzyme Q10, a lipophilic redox molecule that is present in membranes of almost all cells in human tissues, is essential for the respiratory transport chain and is a modulator of inflammatory processes and gene expression" []	69074	\N	\N	EFO	0	EFO	coenzyme Q10 measurement	coenzyme Q10 measurement
EFO:0001444	EFO:0007836	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007836	"quantification in a sample of the amount of coenzyme Q10, a lipophilic redox molecule that is present in membranes of almost all cells in human tissues, is essential for the respiratory transport chain and is a modulator of inflammatory processes and gene expression" []	211226	\N	\N	EFO	1	EFO	measurement	coenzyme Q10 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007836	"quantification in a sample of the amount of coenzyme Q10, a lipophilic redox molecule that is present in membranes of almost all cells in human tissues, is essential for the respiratory transport chain and is a modulator of inflammatory processes and gene expression" []	564485	\N	\N	EFO	2	EFO	information entity	coenzyme Q10 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007836	"quantification in a sample of the amount of coenzyme Q10, a lipophilic redox molecule that is present in membranes of almost all cells in human tissues, is essential for the respiratory transport chain and is a modulator of inflammatory processes and gene expression" []	1145664	\N	\N	EFO	3	EFO	experimental factor	coenzyme Q10 measurement
EFO:0007837	\N	\N	"anti-citrullinated protein antibody seropositivity is the result of a measurement of circulating anti-cyclic citrullinated peptide antibodies" []	EFO:0007837	"anti-citrullinated protein antibody seropositivity is the result of a measurement of circulating anti-cyclic citrullinated peptide antibodies" []	69075	\N	\N	EFO	0	EFO	anti-citrullinated protein antibody seropositivity	anti-citrullinated protein antibody seropositivity
EFO:0007034	EFO:0007837	\N	"a seropositivity measurement is the quantification of an individual's exposure to a certain pathogen through the presence or absence in blood of pathogen specific circulating antibodies" []	EFO:0007837	"anti-citrullinated protein antibody seropositivity is the result of a measurement of circulating anti-cyclic citrullinated peptide antibodies" []	211227	\N	\N	EFO	1	EFO	seropositivity measurement	anti-citrullinated protein antibody seropositivity
EFO:0001444	EFO:0007034	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007837	"anti-citrullinated protein antibody seropositivity is the result of a measurement of circulating anti-cyclic citrullinated peptide antibodies" []	564486	\N	\N	EFO	2	EFO	measurement	anti-citrullinated protein antibody seropositivity
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007837	"anti-citrullinated protein antibody seropositivity is the result of a measurement of circulating anti-cyclic citrullinated peptide antibodies" []	1145665	\N	\N	EFO	3	EFO	information entity	anti-citrullinated protein antibody seropositivity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007837	"anti-citrullinated protein antibody seropositivity is the result of a measurement of circulating anti-cyclic citrullinated peptide antibodies" []	2028136	\N	\N	EFO	4	EFO	experimental factor	anti-citrullinated protein antibody seropositivity
EFO:0007838	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with an anti-thyroid drug, used to treat hyperthyroidism by reducing the excessive production of thyroid hormones." []	EFO:0007838	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with an anti-thyroid drug, used to treat hyperthyroidism by reducing the excessive production of thyroid hormones." []	69076	\N	\N	EFO	0	EFO	response to anti-thyroid drug	response to anti-thyroid drug
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007838	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with an anti-thyroid drug, used to treat hyperthyroidism by reducing the excessive production of thyroid hormones." []	194909	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to anti-thyroid drug
EFO:0007839	\N	\N	"CAROLI was derived from wild mice trapped in Thailand and is from the species Mus caroli, which is distantly related to laboratory mice and does not breed with laboratory mice. These mice are characterized by black feet. This wild derived mouse strain is genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and is a valuable tool for sequence comparison, evolution and systematics research. " []	EFO:0007839	"CAROLI was derived from wild mice trapped in Thailand and is from the species Mus caroli, which is distantly related to laboratory mice and does not breed with laboratory mice. These mice are characterized by black feet. This wild derived mouse strain is genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and is a valuable tool for sequence comparison, evolution and systematics research. " []	69077	\N	\N	EFO	0	EFO	CAROLI/EiJ	CAROLI/EiJ
NCBITaxon:10090	\N	\N	"" []	EFO:0007839	"CAROLI was derived from wild mice trapped in Thailand and is from the species Mus caroli, which is distantly related to laboratory mice and does not breed with laboratory mice. These mice are characterized by black feet. This wild derived mouse strain is genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and is a valuable tool for sequence comparison, evolution and systematics research. " []	194910	\N	\N	EFO	0	EFO	Mus musculus	CAROLI/EiJ
EFO:0007840	\N	\N	"quantification of some aspect of pesticide exposure such as frequency, duration or severity" []	EFO:0007840	"quantification of some aspect of pesticide exposure such as frequency, duration or severity" []	69078	\N	\N	EFO	0	EFO	pesticide exposure measurement	pesticide exposure measurement
EFO:0008360	EFO:0007840	\N	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	EFO:0007840	"quantification of some aspect of pesticide exposure such as frequency, duration or severity" []	211228	\N	\N	EFO	1	EFO	environmental exposure measurement	pesticide exposure measurement
EFO:0001444	EFO:0008360	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007840	"quantification of some aspect of pesticide exposure such as frequency, duration or severity" []	564487	\N	\N	EFO	2	EFO	measurement	pesticide exposure measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007840	"quantification of some aspect of pesticide exposure such as frequency, duration or severity" []	1145666	\N	\N	EFO	3	EFO	information entity	pesticide exposure measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007840	"quantification of some aspect of pesticide exposure such as frequency, duration or severity" []	2028137	\N	\N	EFO	4	EFO	experimental factor	pesticide exposure measurement
EFO:0007841	\N	\N	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	EFO:0007841	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	69079	\N	\N	EFO	0	EFO	facial morphology measurement	facial morphology measurement
EFO:0001444	EFO:0007841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007841	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	211229	\N	\N	EFO	1	EFO	measurement	facial morphology measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007841	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	564488	\N	\N	EFO	2	EFO	information entity	facial morphology measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007841	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	1145667	\N	\N	EFO	3	EFO	experimental factor	facial morphology measurement
EFO:0007842	\N	\N	"quantification of some aspect of chin morphology such as chin shape or chin protrusion" []	EFO:0007842	"quantification of some aspect of chin morphology such as chin shape or chin protrusion" []	69080	\N	\N	EFO	0	EFO	chin morphology measurement	chin morphology measurement
EFO:0007841	EFO:0007842	\N	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	EFO:0007842	"quantification of some aspect of chin morphology such as chin shape or chin protrusion" []	211230	\N	\N	EFO	1	EFO	facial morphology measurement	chin morphology measurement
EFO:0001444	EFO:0007841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007842	"quantification of some aspect of chin morphology such as chin shape or chin protrusion" []	564489	\N	\N	EFO	2	EFO	measurement	chin morphology measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007842	"quantification of some aspect of chin morphology such as chin shape or chin protrusion" []	1145668	\N	\N	EFO	3	EFO	information entity	chin morphology measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007842	"quantification of some aspect of chin morphology such as chin shape or chin protrusion" []	2028138	\N	\N	EFO	4	EFO	experimental factor	chin morphology measurement
EFO:0007843	\N	\N	"quantification of some aspect of nose morphology such as nose wing breadth, nose tip shape or nose profile" []	EFO:0007843	"quantification of some aspect of nose morphology such as nose wing breadth, nose tip shape or nose profile" []	69081	\N	\N	EFO	0	EFO	nose morphology measurement	nose morphology measurement
EFO:0007841	EFO:0007843	\N	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	EFO:0007843	"quantification of some aspect of nose morphology such as nose wing breadth, nose tip shape or nose profile" []	211231	\N	\N	EFO	1	EFO	facial morphology measurement	nose morphology measurement
EFO:0001444	EFO:0007841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007843	"quantification of some aspect of nose morphology such as nose wing breadth, nose tip shape or nose profile" []	564490	\N	\N	EFO	2	EFO	measurement	nose morphology measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007843	"quantification of some aspect of nose morphology such as nose wing breadth, nose tip shape or nose profile" []	1145669	\N	\N	EFO	3	EFO	information entity	nose morphology measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007843	"quantification of some aspect of nose morphology such as nose wing breadth, nose tip shape or nose profile" []	2028139	\N	\N	EFO	4	EFO	experimental factor	nose morphology measurement
EFO:0007844	\N	\N	"quantification of some aspect of forehead morphology such as forehead profile, forehead height or brow-ridge protrusion" []	EFO:0007844	"quantification of some aspect of forehead morphology such as forehead profile, forehead height or brow-ridge protrusion" []	69082	\N	\N	EFO	0	EFO	forehead morphology measurement	forehead morphology measurement
EFO:0007841	EFO:0007844	\N	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	EFO:0007844	"quantification of some aspect of forehead morphology such as forehead profile, forehead height or brow-ridge protrusion" []	211232	\N	\N	EFO	1	EFO	facial morphology measurement	forehead morphology measurement
EFO:0001444	EFO:0007841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007844	"quantification of some aspect of forehead morphology such as forehead profile, forehead height or brow-ridge protrusion" []	564491	\N	\N	EFO	2	EFO	measurement	forehead morphology measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007844	"quantification of some aspect of forehead morphology such as forehead profile, forehead height or brow-ridge protrusion" []	1145670	\N	\N	EFO	3	EFO	information entity	forehead morphology measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007844	"quantification of some aspect of forehead morphology such as forehead profile, forehead height or brow-ridge protrusion" []	2028140	\N	\N	EFO	4	EFO	experimental factor	forehead morphology measurement
EFO:0007845	\N	\N	"quantification of some aspect of lip morphology such as upper lip or lower lip thickness or lip curvature" []	EFO:0007845	"quantification of some aspect of lip morphology such as upper lip or lower lip thickness or lip curvature" []	69083	\N	\N	EFO	0	EFO	lip morphology measurement	lip morphology measurement
EFO:0007841	EFO:0007845	\N	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	EFO:0007845	"quantification of some aspect of lip morphology such as upper lip or lower lip thickness or lip curvature" []	211233	\N	\N	EFO	1	EFO	facial morphology measurement	lip morphology measurement
EFO:0001444	EFO:0007841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007845	"quantification of some aspect of lip morphology such as upper lip or lower lip thickness or lip curvature" []	564492	\N	\N	EFO	2	EFO	measurement	lip morphology measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007845	"quantification of some aspect of lip morphology such as upper lip or lower lip thickness or lip curvature" []	1145671	\N	\N	EFO	3	EFO	information entity	lip morphology measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007845	"quantification of some aspect of lip morphology such as upper lip or lower lip thickness or lip curvature" []	2028141	\N	\N	EFO	4	EFO	experimental factor	lip morphology measurement
EFO:0007847	\N	\N	"quantification of some aspect of cheekbone morphology such as cheekbone protrusion" []	EFO:0007847	"quantification of some aspect of cheekbone morphology such as cheekbone protrusion" []	69084	\N	\N	EFO	0	EFO	cheekbone morphology measurement	cheekbone morphology measurement
EFO:0007841	EFO:0007847	\N	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	EFO:0007847	"quantification of some aspect of cheekbone morphology such as cheekbone protrusion" []	211234	\N	\N	EFO	1	EFO	facial morphology measurement	cheekbone morphology measurement
EFO:0001444	EFO:0007841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007847	"quantification of some aspect of cheekbone morphology such as cheekbone protrusion" []	564493	\N	\N	EFO	2	EFO	measurement	cheekbone morphology measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007847	"quantification of some aspect of cheekbone morphology such as cheekbone protrusion" []	1145672	\N	\N	EFO	3	EFO	information entity	cheekbone morphology measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007847	"quantification of some aspect of cheekbone morphology such as cheekbone protrusion" []	2028142	\N	\N	EFO	4	EFO	experimental factor	cheekbone morphology measurement
EFO:0007848	\N	\N	"quantification of serum lipoprotein A-IV. Apolipoprotein A-IV, encoded in humans by the APOA4 gene,  a 376-residue mature O-linked glycoprotein." []	EFO:0007848	"quantification of serum lipoprotein A-IV. Apolipoprotein A-IV, encoded in humans by the APOA4 gene,  a 376-residue mature O-linked glycoprotein." []	69085	\N	\N	EFO	0	EFO	apolipoprotein A-IV measurement	apolipoprotein A-IV measurement
EFO:0004732	EFO:0007848	\N	"Is the quantification of some lipoprotein" []	EFO:0007848	"quantification of serum lipoprotein A-IV. Apolipoprotein A-IV, encoded in humans by the APOA4 gene,  a 376-residue mature O-linked glycoprotein." []	211235	\N	\N	EFO	1	EFO	lipoprotein measurement	apolipoprotein A-IV measurement
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007848	"quantification of serum lipoprotein A-IV. Apolipoprotein A-IV, encoded in humans by the APOA4 gene,  a 376-residue mature O-linked glycoprotein." []	564494	\N	\N	EFO	2	EFO	protein measurement	apolipoprotein A-IV measurement
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0007848	"quantification of serum lipoprotein A-IV. Apolipoprotein A-IV, encoded in humans by the APOA4 gene,  a 376-residue mature O-linked glycoprotein." []	564495	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	apolipoprotein A-IV measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007848	"quantification of serum lipoprotein A-IV. Apolipoprotein A-IV, encoded in humans by the APOA4 gene,  a 376-residue mature O-linked glycoprotein." []	1145673	\N	\N	EFO	3	EFO	measurement	apolipoprotein A-IV measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007848	"quantification of serum lipoprotein A-IV. Apolipoprotein A-IV, encoded in humans by the APOA4 gene,  a 376-residue mature O-linked glycoprotein." []	1145674	\N	\N	EFO	3	EFO	measurement	apolipoprotein A-IV measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007848	"quantification of serum lipoprotein A-IV. Apolipoprotein A-IV, encoded in humans by the APOA4 gene,  a 376-residue mature O-linked glycoprotein." []	2028143	\N	\N	EFO	4	EFO	information entity	apolipoprotein A-IV measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007848	"quantification of serum lipoprotein A-IV. Apolipoprotein A-IV, encoded in humans by the APOA4 gene,  a 376-residue mature O-linked glycoprotein." []	3179396	\N	\N	EFO	5	EFO	experimental factor	apolipoprotein A-IV measurement
EFO:0007849	\N	\N	"quantification of brain function, usually via functional magnetic resonance imaging (MRI), for example using blood-oxygen-level dependent contrast imaging (BOLD), often measured in response to a stimulus such as performing a task or exposure to images, sounds or smells" []	EFO:0007849	"quantification of brain function, usually via functional magnetic resonance imaging (MRI), for example using blood-oxygen-level dependent contrast imaging (BOLD), often measured in response to a stimulus such as performing a task or exposure to images, sounds or smells" []	69086	\N	\N	EFO	0	EFO	functional brain measurement	functional brain measurement
EFO:0004346	EFO:0007849	\N	"Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan" []	EFO:0007849	"quantification of brain function, usually via functional magnetic resonance imaging (MRI), for example using blood-oxygen-level dependent contrast imaging (BOLD), often measured in response to a stimulus such as performing a task or exposure to images, sounds or smells" []	211236	\N	\N	EFO	1	EFO	neuroimaging measurement	functional brain measurement
EFO:0004464	EFO:0007849	\N	"" []	EFO:0007849	"quantification of brain function, usually via functional magnetic resonance imaging (MRI), for example using blood-oxygen-level dependent contrast imaging (BOLD), often measured in response to a stimulus such as performing a task or exposure to images, sounds or smells" []	211237	\N	\N	EFO	1	EFO	brain measurement	functional brain measurement
EFO:0001444	EFO:0004346	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007849	"quantification of brain function, usually via functional magnetic resonance imaging (MRI), for example using blood-oxygen-level dependent contrast imaging (BOLD), often measured in response to a stimulus such as performing a task or exposure to images, sounds or smells" []	564496	\N	\N	EFO	2	EFO	measurement	functional brain measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007849	"quantification of brain function, usually via functional magnetic resonance imaging (MRI), for example using blood-oxygen-level dependent contrast imaging (BOLD), often measured in response to a stimulus such as performing a task or exposure to images, sounds or smells" []	564497	\N	\N	EFO	2	EFO	measurement	functional brain measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007849	"quantification of brain function, usually via functional magnetic resonance imaging (MRI), for example using blood-oxygen-level dependent contrast imaging (BOLD), often measured in response to a stimulus such as performing a task or exposure to images, sounds or smells" []	1145675	\N	\N	EFO	3	EFO	information entity	functional brain measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007849	"quantification of brain function, usually via functional magnetic resonance imaging (MRI), for example using blood-oxygen-level dependent contrast imaging (BOLD), often measured in response to a stimulus such as performing a task or exposure to images, sounds or smells" []	2028144	\N	\N	EFO	4	EFO	experimental factor	functional brain measurement
EFO:0007850	\N	\N	"quantification of the amount or severity of solar lentigines, flat tan to brown spots sometimes called liver spots, on an individual's skin. Lentigines are associated with skin aging and sun exposure" []	EFO:0007850	"quantification of the amount or severity of solar lentigines, flat tan to brown spots sometimes called liver spots, on an individual's skin. Lentigines are associated with skin aging and sun exposure" []	69087	\N	\N	EFO	0	EFO	solar lentigines measurement	solar lentigines measurement
EFO:0007009	EFO:0007850	\N	"quantification of some aspect of skin pigmentation, such as saturation, darkness or skin sensitivity to sun" []	EFO:0007850	"quantification of the amount or severity of solar lentigines, flat tan to brown spots sometimes called liver spots, on an individual's skin. Lentigines are associated with skin aging and sun exposure" []	211238	\N	\N	EFO	1	EFO	skin pigmentation measurement	solar lentigines measurement
EFO:0001444	EFO:0007009	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007850	"quantification of the amount or severity of solar lentigines, flat tan to brown spots sometimes called liver spots, on an individual's skin. Lentigines are associated with skin aging and sun exposure" []	564498	\N	\N	EFO	2	EFO	measurement	solar lentigines measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007850	"quantification of the amount or severity of solar lentigines, flat tan to brown spots sometimes called liver spots, on an individual's skin. Lentigines are associated with skin aging and sun exposure" []	1145676	\N	\N	EFO	3	EFO	information entity	solar lentigines measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007850	"quantification of the amount or severity of solar lentigines, flat tan to brown spots sometimes called liver spots, on an individual's skin. Lentigines are associated with skin aging and sun exposure" []	2028145	\N	\N	EFO	4	EFO	experimental factor	solar lentigines measurement
EFO:0007851	\N	\N	"Seroconversion is the process during which a specific antibody develops and becomes detectable in the blood. During infection or immunisation, antigenes enter the blood and the immune system begins to produce antibodies in response. Before seroconversion, the antigen itself may or may not be detectable but the antibody is, by definition, absent. During seroconversion, the antibody is present but not yet detectable. After seroconversion has occurred, the antibodies can be detected, indicating prior or current infection." []	EFO:0007851	"Seroconversion is the process during which a specific antibody develops and becomes detectable in the blood. During infection or immunisation, antigenes enter the blood and the immune system begins to produce antibodies in response. Before seroconversion, the antigen itself may or may not be detectable but the antibody is, by definition, absent. During seroconversion, the antibody is present but not yet detectable. After seroconversion has occurred, the antibodies can be detected, indicating prior or current infection." []	69088	\N	\N	EFO	0	EFO	seroconversion	seroconversion
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	EFO:0007851	"Seroconversion is the process during which a specific antibody develops and becomes detectable in the blood. During infection or immunisation, antigenes enter the blood and the immune system begins to produce antibodies in response. Before seroconversion, the antigen itself may or may not be detectable but the antibody is, by definition, absent. During seroconversion, the antibody is present but not yet detectable. After seroconversion has occurred, the antibodies can be detected, indicating prior or current infection." []	194911	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	seroconversion
EFO:0007852	\N	\N	"quantification of the activity of the enzyme thiopurine methyltransferase in a sample" []	EFO:0007852	"quantification of the activity of the enzyme thiopurine methyltransferase in a sample" []	69089	\N	\N	EFO	0	EFO	thiopurine methyltransferase activity measurement	thiopurine methyltransferase activity measurement
EFO:0004747	EFO:0007852	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007852	"quantification of the activity of the enzyme thiopurine methyltransferase in a sample" []	211239	\N	\N	EFO	1	EFO	protein measurement	thiopurine methyltransferase activity measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007852	"quantification of the activity of the enzyme thiopurine methyltransferase in a sample" []	564499	\N	\N	EFO	2	EFO	measurement	thiopurine methyltransferase activity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007852	"quantification of the activity of the enzyme thiopurine methyltransferase in a sample" []	1145677	\N	\N	EFO	3	EFO	information entity	thiopurine methyltransferase activity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007852	"quantification of the activity of the enzyme thiopurine methyltransferase in a sample" []	2028146	\N	\N	EFO	4	EFO	experimental factor	thiopurine methyltransferase activity measurement
EFO:0007853	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with mercaptopurine" []	EFO:0007853	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with mercaptopurine" []	69090	\N	\N	EFO	0	EFO	response to mercaptopurine	response to mercaptopurine
EFO:0006317	EFO:0007853	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with thiopurine" []	EFO:0007853	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with mercaptopurine" []	211240	\N	\N	EFO	1	EFO	response to thiopurine	response to mercaptopurine
EFO:0007854	\N	\N	"quantification of peak torque values of the knee flexor muscles" []	EFO:0007854	"quantification of peak torque values of the knee flexor muscles" []	69091	\N	\N	EFO	0	EFO	knee peak torque measurement	knee peak torque measurement
EFO:0004302	EFO:0007854	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0007854	"quantification of peak torque values of the knee flexor muscles" []	211241	\N	\N	EFO	1	EFO	anthropometric measurement	knee peak torque measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007854	"quantification of peak torque values of the knee flexor muscles" []	564500	\N	\N	EFO	2	EFO	measurement	knee peak torque measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007854	"quantification of peak torque values of the knee flexor muscles" []	1145678	\N	\N	EFO	3	EFO	information entity	knee peak torque measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007854	"quantification of peak torque values of the knee flexor muscles" []	2028147	\N	\N	EFO	4	EFO	experimental factor	knee peak torque measurement
EFO:0007855	\N	\N	"quantification of some aspect of facial width, such a the cranial base width" []	EFO:0007855	"quantification of some aspect of facial width, such a the cranial base width" []	69092	\N	\N	EFO	0	EFO	facial width measurement	facial width measurement
EFO:0007841	EFO:0007855	\N	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	EFO:0007855	"quantification of some aspect of facial width, such a the cranial base width" []	211242	\N	\N	EFO	1	EFO	facial morphology measurement	facial width measurement
EFO:0001444	EFO:0007841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007855	"quantification of some aspect of facial width, such a the cranial base width" []	564501	\N	\N	EFO	2	EFO	measurement	facial width measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007855	"quantification of some aspect of facial width, such a the cranial base width" []	1145679	\N	\N	EFO	3	EFO	information entity	facial width measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007855	"quantification of some aspect of facial width, such a the cranial base width" []	2028148	\N	\N	EFO	4	EFO	experimental factor	facial width measurement
EFO:0007856	\N	\N	"quantification of some aspect of facial height, such a the height of the entire face or the height of the upper half of the face" []	EFO:0007856	"quantification of some aspect of facial height, such a the height of the entire face or the height of the upper half of the face" []	69093	\N	\N	EFO	0	EFO	facial height measurement	facial height measurement
EFO:0007841	EFO:0007856	\N	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	EFO:0007856	"quantification of some aspect of facial height, such a the height of the entire face or the height of the upper half of the face" []	211243	\N	\N	EFO	1	EFO	facial morphology measurement	facial height measurement
EFO:0001444	EFO:0007841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007856	"quantification of some aspect of facial height, such a the height of the entire face or the height of the upper half of the face" []	564502	\N	\N	EFO	2	EFO	measurement	facial height measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007856	"quantification of some aspect of facial height, such a the height of the entire face or the height of the upper half of the face" []	1145680	\N	\N	EFO	3	EFO	information entity	facial height measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007856	"quantification of some aspect of facial height, such a the height of the entire face or the height of the upper half of the face" []	2028149	\N	\N	EFO	4	EFO	experimental factor	facial height measurement
EFO:0007857	\N	\N	"quantification of some aspect of facial depth, such as the distance from the tip of the nose to the tip of the ear lobe" []	EFO:0007857	"quantification of some aspect of facial depth, such as the distance from the tip of the nose to the tip of the ear lobe" []	69094	\N	\N	EFO	0	EFO	facial depth measurement	facial depth measurement
EFO:0007841	EFO:0007857	\N	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	EFO:0007857	"quantification of some aspect of facial depth, such as the distance from the tip of the nose to the tip of the ear lobe" []	211244	\N	\N	EFO	1	EFO	facial morphology measurement	facial depth measurement
EFO:0001444	EFO:0007841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007857	"quantification of some aspect of facial depth, such as the distance from the tip of the nose to the tip of the ear lobe" []	564503	\N	\N	EFO	2	EFO	measurement	facial depth measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007857	"quantification of some aspect of facial depth, such as the distance from the tip of the nose to the tip of the ear lobe" []	1145681	\N	\N	EFO	3	EFO	information entity	facial depth measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007857	"quantification of some aspect of facial depth, such as the distance from the tip of the nose to the tip of the ear lobe" []	2028150	\N	\N	EFO	4	EFO	experimental factor	facial depth measurement
EFO:0007858	\N	\N	"quantification of some aspect of eye morphology, such as the width of the eye socket" []	EFO:0007858	"quantification of some aspect of eye morphology, such as the width of the eye socket" []	69095	\N	\N	EFO	0	EFO	eye morphology measurement	eye morphology measurement
EFO:0007841	EFO:0007858	\N	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	EFO:0007858	"quantification of some aspect of eye morphology, such as the width of the eye socket" []	211245	\N	\N	EFO	1	EFO	facial morphology measurement	eye morphology measurement
EFO:0001444	EFO:0007841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007858	"quantification of some aspect of eye morphology, such as the width of the eye socket" []	564504	\N	\N	EFO	2	EFO	measurement	eye morphology measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007858	"quantification of some aspect of eye morphology, such as the width of the eye socket" []	1145682	\N	\N	EFO	3	EFO	information entity	eye morphology measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007858	"quantification of some aspect of eye morphology, such as the width of the eye socket" []	2028151	\N	\N	EFO	4	EFO	experimental factor	eye morphology measurement
EFO:0007859	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of any interferon stimulus" []	EFO:0007859	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of any interferon stimulus" []	69096	\N	\N	EFO	0	EFO	response to interferon	response to interferon
GO:0034097	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus." [GOC:sl]	EFO:0007859	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of any interferon stimulus" []	194912	\N	\N	EFO	0	EFO	response to cytokine	response to interferon
EFO:0007860	\N	\N	"quantification of some aspect of ADHD symptoms such as presence/absence or severity, usually through administration of standardised questionnaires or evaluation by a qualified professional" []	EFO:0007860	"quantification of some aspect of ADHD symptoms such as presence/absence or severity, usually through administration of standardised questionnaires or evaluation by a qualified professional" []	69097	\N	\N	EFO	0	EFO	ADHD symptom measurement	ADHD symptom measurement
EFO:0006848	EFO:0007860	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007860	"quantification of some aspect of ADHD symptoms such as presence/absence or severity, usually through administration of standardised questionnaires or evaluation by a qualified professional" []	211246	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	ADHD symptom measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007860	"quantification of some aspect of ADHD symptoms such as presence/absence or severity, usually through administration of standardised questionnaires or evaluation by a qualified professional" []	564505	\N	\N	EFO	2	EFO	measurement	ADHD symptom measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007860	"quantification of some aspect of ADHD symptoms such as presence/absence or severity, usually through administration of standardised questionnaires or evaluation by a qualified professional" []	1145683	\N	\N	EFO	3	EFO	information entity	ADHD symptom measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007860	"quantification of some aspect of ADHD symptoms such as presence/absence or severity, usually through administration of standardised questionnaires or evaluation by a qualified professional" []	2028152	\N	\N	EFO	4	EFO	experimental factor	ADHD symptom measurement
EFO:0007861	\N	\N	"quantification of the ratio between two body measures, eg waist-hip ratio" []	EFO:0007861	"quantification of the ratio between two body measures, eg waist-hip ratio" []	69098	\N	\N	EFO	0	EFO	body ratio measurement	body ratio measurement
EFO:0004324	EFO:0007861	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0007861	"quantification of the ratio between two body measures, eg waist-hip ratio" []	211247	\N	\N	EFO	1	EFO	body weights and measures	body ratio measurement
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0007861	"quantification of the ratio between two body measures, eg waist-hip ratio" []	564506	\N	\N	EFO	2	EFO	anthropometric measurement	body ratio measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007861	"quantification of the ratio between two body measures, eg waist-hip ratio" []	1145684	\N	\N	EFO	3	EFO	measurement	body ratio measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007861	"quantification of the ratio between two body measures, eg waist-hip ratio" []	2028153	\N	\N	EFO	4	EFO	information entity	body ratio measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007861	"quantification of the ratio between two body measures, eg waist-hip ratio" []	3179397	\N	\N	EFO	5	EFO	experimental factor	body ratio measurement
EFO:0007862	\N	\N	"quantification of some aspect of reproductive behaviour such as age at first birth or number of children" []	EFO:0007862	"quantification of some aspect of reproductive behaviour such as age at first birth or number of children" []	69099	\N	\N	EFO	0	EFO	reproductive behaviour measurement	reproductive behaviour measurement
EFO:0001444	EFO:0007862	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007862	"quantification of some aspect of reproductive behaviour such as age at first birth or number of children" []	211248	\N	\N	EFO	1	EFO	measurement	reproductive behaviour measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007862	"quantification of some aspect of reproductive behaviour such as age at first birth or number of children" []	564507	\N	\N	EFO	2	EFO	information entity	reproductive behaviour measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007862	"quantification of some aspect of reproductive behaviour such as age at first birth or number of children" []	1145685	\N	\N	EFO	3	EFO	experimental factor	reproductive behaviour measurement
EFO:0007863	\N	\N	"quantification of the severity of a patient's illness, eg critical or mild" []	EFO:0007863	"quantification of the severity of a patient's illness, eg critical or mild" []	69100	\N	\N	EFO	0	EFO	illness severity status	illness severity status
EFO:0001444	EFO:0007863	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007863	"quantification of the severity of a patient's illness, eg critical or mild" []	211249	\N	\N	EFO	1	EFO	measurement	illness severity status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007863	"quantification of the severity of a patient's illness, eg critical or mild" []	564508	\N	\N	EFO	2	EFO	information entity	illness severity status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007863	"quantification of the severity of a patient's illness, eg critical or mild" []	1145686	\N	\N	EFO	3	EFO	experimental factor	illness severity status
EFO:0007864	\N	\N	"Quantification of the amount of sulfate, an inorganic polyatomic anion, in a sample. Sulfate is critical in many organisms in the biotransformation of multiple compounds via sulfotransferase-mediated sulfate conjugation (sulfation)." []	EFO:0007864	"Quantification of the amount of sulfate, an inorganic polyatomic anion, in a sample. Sulfate is critical in many organisms in the biotransformation of multiple compounds via sulfotransferase-mediated sulfate conjugation (sulfation)." []	69101	\N	\N	EFO	0	EFO	sulfate measurement	sulfate measurement
EFO:0001444	EFO:0007864	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007864	"Quantification of the amount of sulfate, an inorganic polyatomic anion, in a sample. Sulfate is critical in many organisms in the biotransformation of multiple compounds via sulfotransferase-mediated sulfate conjugation (sulfation)." []	211250	\N	\N	EFO	1	EFO	measurement	sulfate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007864	"Quantification of the amount of sulfate, an inorganic polyatomic anion, in a sample. Sulfate is critical in many organisms in the biotransformation of multiple compounds via sulfotransferase-mediated sulfate conjugation (sulfation)." []	564509	\N	\N	EFO	2	EFO	information entity	sulfate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007864	"Quantification of the amount of sulfate, an inorganic polyatomic anion, in a sample. Sulfate is critical in many organisms in the biotransformation of multiple compounds via sulfotransferase-mediated sulfate conjugation (sulfation)." []	1145687	\N	\N	EFO	3	EFO	experimental factor	sulfate measurement
EFO:0007865	\N	\N	"Quantification of some aspect of loneliness, such as severity or presence/absence, generally through administration of a standardised questionnaire such as the 3-Item Leave Behind Questionnaire (LBQ)." []	EFO:0007865	"Quantification of some aspect of loneliness, such as severity or presence/absence, generally through administration of a standardised questionnaire such as the 3-Item Leave Behind Questionnaire (LBQ)." []	69102	\N	\N	EFO	0	EFO	loneliness measurement	loneliness measurement
EFO:0006848	EFO:0007865	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007865	"Quantification of some aspect of loneliness, such as severity or presence/absence, generally through administration of a standardised questionnaire such as the 3-Item Leave Behind Questionnaire (LBQ)." []	211251	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	loneliness measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007865	"Quantification of some aspect of loneliness, such as severity or presence/absence, generally through administration of a standardised questionnaire such as the 3-Item Leave Behind Questionnaire (LBQ)." []	564510	\N	\N	EFO	2	EFO	measurement	loneliness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007865	"Quantification of some aspect of loneliness, such as severity or presence/absence, generally through administration of a standardised questionnaire such as the 3-Item Leave Behind Questionnaire (LBQ)." []	1145688	\N	\N	EFO	3	EFO	information entity	loneliness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007865	"Quantification of some aspect of loneliness, such as severity or presence/absence, generally through administration of a standardised questionnaire such as the 3-Item Leave Behind Questionnaire (LBQ)." []	2028154	\N	\N	EFO	4	EFO	experimental factor	loneliness measurement
EFO:0007866	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with rifampicin, an antibiotic used to fight several types of bacterial infections, including tuberculosis, leprosy and Legionnaire's disease" []	EFO:0007866	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with rifampicin, an antibiotic used to fight several types of bacterial infections, including tuberculosis, leprosy and Legionnaire's disease" []	69103	\N	\N	EFO	0	EFO	response to rifampicin	response to rifampicin
GO:0046677	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms." [GOC:ai, GOC:ef]	EFO:0007866	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with rifampicin, an antibiotic used to fight several types of bacterial infections, including tuberculosis, leprosy and Legionnaire's disease" []	194913	\N	goslim_chembl,gosubset_prok	EFO	0	EFO	response to antibiotic	response to rifampicin
EFO:0007867	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gefitinib stimulus." []	EFO:0007867	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gefitinib stimulus." []	69104	\N	\N	EFO	0	EFO	response to gefitinib	response to gefitinib
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0007867	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gefitinib stimulus." []	194914	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to gefitinib
EFO:0007868	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an erlotinib stimulus." []	EFO:0007868	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an erlotinib stimulus." []	69105	\N	\N	EFO	0	EFO	response to erlotinib	response to erlotinib
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0007868	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an erlotinib stimulus." []	194915	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to erlotinib
EFO:0007869	\N	\N	"quantification of some aspect of wellbeing such as life satisfaction or emotional wellbeing, usually self-reported and quantified through the use of a structured questionnaire" []	EFO:0007869	"quantification of some aspect of wellbeing such as life satisfaction or emotional wellbeing, usually self-reported and quantified through the use of a structured questionnaire" []	69106	\N	\N	EFO	0	EFO	wellbeing measurement	wellbeing measurement
EFO:0006848	EFO:0007869	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007869	"quantification of some aspect of wellbeing such as life satisfaction or emotional wellbeing, usually self-reported and quantified through the use of a structured questionnaire" []	211252	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	wellbeing measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007869	"quantification of some aspect of wellbeing such as life satisfaction or emotional wellbeing, usually self-reported and quantified through the use of a structured questionnaire" []	564511	\N	\N	EFO	2	EFO	measurement	wellbeing measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007869	"quantification of some aspect of wellbeing such as life satisfaction or emotional wellbeing, usually self-reported and quantified through the use of a structured questionnaire" []	1145689	\N	\N	EFO	3	EFO	information entity	wellbeing measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007869	"quantification of some aspect of wellbeing such as life satisfaction or emotional wellbeing, usually self-reported and quantified through the use of a structured questionnaire" []	2028155	\N	\N	EFO	4	EFO	experimental factor	wellbeing measurement
EFO:0007870	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a norepinephrine-dopamine reuptake inhibitor stimulus. Norepinephrinedopamine reuptake inhibitors (NDRI) are a class of drugs that act as a reuptake inhibitor for the neurotransmitters norepinephrine and dopamine by blocking the action of the norepinephrine transporter (NET) and the dopamine transporter (DAT), respectively. This in turn leads to increased extracellular concentrations of both norepinephrine and dopamine and, therefore, an increase in adrenergic and dopaminergic neurotransmission." []	EFO:0007870	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a norepinephrine-dopamine reuptake inhibitor stimulus. Norepinephrinedopamine reuptake inhibitors (NDRI) are a class of drugs that act as a reuptake inhibitor for the neurotransmitters norepinephrine and dopamine by blocking the action of the norepinephrine transporter (NET) and the dopamine transporter (DAT), respectively. This in turn leads to increased extracellular concentrations of both norepinephrine and dopamine and, therefore, an increase in adrenergic and dopaminergic neurotransmission." []	69107	\N	\N	EFO	0	EFO	response to norepinephrine-dopamine reuptake inhibitor	response to norepinephrine-dopamine reuptake inhibitor
GO:0036276	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antidepressant stimulus, a mood-stimulating drug." [CHEBI:35469, GOC:hp]	EFO:0007870	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a norepinephrine-dopamine reuptake inhibitor stimulus. Norepinephrinedopamine reuptake inhibitors (NDRI) are a class of drugs that act as a reuptake inhibitor for the neurotransmitters norepinephrine and dopamine by blocking the action of the norepinephrine transporter (NET) and the dopamine transporter (DAT), respectively. This in turn leads to increased extracellular concentrations of both norepinephrine and dopamine and, therefore, an increase in adrenergic and dopaminergic neurotransmission." []	194916	\N	gocheck_do_not_manually_annotate	EFO	0	EFO	response to antidepressant	response to norepinephrine-dopamine reuptake inhibitor
EFO:0007871	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a escitalopram stimulus. Escitalopram is the (S)-stereoisomer (Left-enantiomer) of the earlier Lundbeck drug citalopram, hence the name escitalopram. Whether escitalopram exhibits superior therapeutic properties to citalopram or merely represents an example of \\"evergreening\\" is controversial." []	EFO:0007871	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a escitalopram stimulus. Escitalopram is the (S)-stereoisomer (Left-enantiomer) of the earlier Lundbeck drug citalopram, hence the name escitalopram. Whether escitalopram exhibits superior therapeutic properties to citalopram or merely represents an example of \\"evergreening\\" is controversial." []	69108	\N	\N	EFO	0	EFO	response to escitalopram	response to escitalopram
EFO:0005658	EFO:0007871	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a selective serotonin reuptake inhibitor stimulus, a mood-stimulating drug." []	EFO:0007871	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a escitalopram stimulus. Escitalopram is the (S)-stereoisomer (Left-enantiomer) of the earlier Lundbeck drug citalopram, hence the name escitalopram. Whether escitalopram exhibits superior therapeutic properties to citalopram or merely represents an example of \\"evergreening\\" is controversial." []	211253	\N	\N	EFO	1	EFO	response to selective serotonin reuptake inhibitor	response to escitalopram
EFO:0007872	\N	\N	"quantification of caffeine (1,3,7 trimethylxanthine) or any metabolite derived from caffeine, including paraxanthine (1,7 dimethylxanthine), theophylline (1,3 dimethylxanthine), and theobromine (3,7 dimethylxanthine) in a sample" []	EFO:0007872	"quantification of caffeine (1,3,7 trimethylxanthine) or any metabolite derived from caffeine, including paraxanthine (1,7 dimethylxanthine), theophylline (1,3 dimethylxanthine), and theobromine (3,7 dimethylxanthine) in a sample" []	69109	\N	\N	EFO	0	EFO	caffeine metabolite measurement	caffeine metabolite measurement
EFO:0004725	EFO:0007872	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0007872	"quantification of caffeine (1,3,7 trimethylxanthine) or any metabolite derived from caffeine, including paraxanthine (1,7 dimethylxanthine), theophylline (1,3 dimethylxanthine), and theobromine (3,7 dimethylxanthine) in a sample" []	211254	\N	\N	EFO	1	EFO	metabolite measurement	caffeine metabolite measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007872	"quantification of caffeine (1,3,7 trimethylxanthine) or any metabolite derived from caffeine, including paraxanthine (1,7 dimethylxanthine), theophylline (1,3 dimethylxanthine), and theobromine (3,7 dimethylxanthine) in a sample" []	564512	\N	\N	EFO	2	EFO	measurement	caffeine metabolite measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007872	"quantification of caffeine (1,3,7 trimethylxanthine) or any metabolite derived from caffeine, including paraxanthine (1,7 dimethylxanthine), theophylline (1,3 dimethylxanthine), and theobromine (3,7 dimethylxanthine) in a sample" []	1145690	\N	\N	EFO	3	EFO	information entity	caffeine metabolite measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007872	"quantification of caffeine (1,3,7 trimethylxanthine) or any metabolite derived from caffeine, including paraxanthine (1,7 dimethylxanthine), theophylline (1,3 dimethylxanthine), and theobromine (3,7 dimethylxanthine) in a sample" []	2028156	\N	\N	EFO	4	EFO	experimental factor	caffeine metabolite measurement
EFO:0007873	\N	\N	"Quantification of the thickness of cartilage in a joint, most commonly the hip joint, for example using minimal joint space width (mJSW) as a proxy measure. Cartilage thickness is an indicator of joint health, which makes it a suitable biomarker for osteoarthritis." []	EFO:0007873	"Quantification of the thickness of cartilage in a joint, most commonly the hip joint, for example using minimal joint space width (mJSW) as a proxy measure. Cartilage thickness is an indicator of joint health, which makes it a suitable biomarker for osteoarthritis." []	69110	\N	\N	EFO	0	EFO	cartilage thickness measurement	cartilage thickness measurement
EFO:0005890	EFO:0007873	\N	"osteoarthritis biomarkers, such as  serum cartilage oligomeric protein (sCOMP) and urinary C-telopeptide of type II collagen (uCTX-II), are used as indicators for osteoarthritis screening and as predictors for therapeutic responses and prognoses in patients" []	EFO:0007873	"Quantification of the thickness of cartilage in a joint, most commonly the hip joint, for example using minimal joint space width (mJSW) as a proxy measure. Cartilage thickness is an indicator of joint health, which makes it a suitable biomarker for osteoarthritis." []	211255	\N	\N	EFO	1	EFO	osteoarthritis biomarker measurement	cartilage thickness measurement
EFO:0006846	EFO:0005890	\N	"Is a quantification of some substance or anatomical feature used as an indicator of biological state" []	EFO:0007873	"Quantification of the thickness of cartilage in a joint, most commonly the hip joint, for example using minimal joint space width (mJSW) as a proxy measure. Cartilage thickness is an indicator of joint health, which makes it a suitable biomarker for osteoarthritis." []	564513	\N	\N	EFO	2	EFO	autoimmune disease biomarker	cartilage thickness measurement
EFO:0001444	EFO:0006846	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007873	"Quantification of the thickness of cartilage in a joint, most commonly the hip joint, for example using minimal joint space width (mJSW) as a proxy measure. Cartilage thickness is an indicator of joint health, which makes it a suitable biomarker for osteoarthritis." []	1145691	\N	\N	EFO	3	EFO	measurement	cartilage thickness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007873	"Quantification of the thickness of cartilage in a joint, most commonly the hip joint, for example using minimal joint space width (mJSW) as a proxy measure. Cartilage thickness is an indicator of joint health, which makes it a suitable biomarker for osteoarthritis." []	2028157	\N	\N	EFO	4	EFO	information entity	cartilage thickness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007873	"Quantification of the thickness of cartilage in a joint, most commonly the hip joint, for example using minimal joint space width (mJSW) as a proxy measure. Cartilage thickness is an indicator of joint health, which makes it a suitable biomarker for osteoarthritis." []	3179398	\N	\N	EFO	5	EFO	experimental factor	cartilage thickness measurement
EFO:0007874	\N	\N	"quantification of some aspect of an individual's micrbiome of the gut" []	EFO:0007874	"quantification of some aspect of an individual's micrbiome of the gut" []	69111	\N	\N	EFO	0	EFO	gut microbiome measurement	gut microbiome measurement
EFO:0007882	EFO:0007874	\N	"quantification of some aspect of an individual's microbiome" []	EFO:0007874	"quantification of some aspect of an individual's micrbiome of the gut" []	211256	\N	\N	EFO	1	EFO	microbiome measurement	gut microbiome measurement
EFO:0004557	EFO:0007882	\N	"Is the quantification of some measureable quality of a population e.g. birth rate." []	EFO:0007874	"quantification of some aspect of an individual's micrbiome of the gut" []	564514	\N	\N	EFO	2	EFO	population measurement	gut microbiome measurement
EFO:0001444	EFO:0004557	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007874	"quantification of some aspect of an individual's micrbiome of the gut" []	1145692	\N	\N	EFO	3	EFO	measurement	gut microbiome measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007874	"quantification of some aspect of an individual's micrbiome of the gut" []	2028158	\N	\N	EFO	4	EFO	information entity	gut microbiome measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007874	"quantification of some aspect of an individual's micrbiome of the gut" []	3179399	\N	\N	EFO	5	EFO	experimental factor	gut microbiome measurement
EFO:0007875	\N	\N	"quantification of excessive daytime sleepiness such as how often it occurs and its severity" []	EFO:0007875	"quantification of excessive daytime sleepiness such as how often it occurs and its severity" []	69112	\N	\N	EFO	0	EFO	excessive daytime sleepiness measurement	excessive daytime sleepiness measurement
EFO:0004870	EFO:0007875	\N	"Is a quantification of some sleep parameter." []	EFO:0007875	"quantification of excessive daytime sleepiness such as how often it occurs and its severity" []	211257	\N	\N	EFO	1	EFO	sleep measurement	excessive daytime sleepiness measurement
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007875	"quantification of excessive daytime sleepiness such as how often it occurs and its severity" []	564515	\N	\N	EFO	2	EFO	measurement	excessive daytime sleepiness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007875	"quantification of excessive daytime sleepiness such as how often it occurs and its severity" []	1145693	\N	\N	EFO	3	EFO	information entity	excessive daytime sleepiness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007875	"quantification of excessive daytime sleepiness such as how often it occurs and its severity" []	2028159	\N	\N	EFO	4	EFO	experimental factor	excessive daytime sleepiness measurement
EFO:0007876	\N	\N	"quantification of insomnia such as how often it occurs and its severity" []	EFO:0007876	"quantification of insomnia such as how often it occurs and its severity" []	69113	\N	\N	EFO	0	EFO	insomnia measurement	insomnia measurement
EFO:0004870	EFO:0007876	\N	"Is a quantification of some sleep parameter." []	EFO:0007876	"quantification of insomnia such as how often it occurs and its severity" []	211258	\N	\N	EFO	1	EFO	sleep measurement	insomnia measurement
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007876	"quantification of insomnia such as how often it occurs and its severity" []	564516	\N	\N	EFO	2	EFO	measurement	insomnia measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007876	"quantification of insomnia such as how often it occurs and its severity" []	1145694	\N	\N	EFO	3	EFO	information entity	insomnia measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007876	"quantification of insomnia such as how often it occurs and its severity" []	2028160	\N	\N	EFO	4	EFO	experimental factor	insomnia measurement
EFO:0007877	\N	\N	"quantification of some aspect of risky sexual behaviour such as frequency of unprotected sexual intercourse and number of sexual partners within a given time frame" []	EFO:0007877	"quantification of some aspect of risky sexual behaviour such as frequency of unprotected sexual intercourse and number of sexual partners within a given time frame" []	69114	\N	\N	EFO	0	EFO	risky sexual behaviour measurement	risky sexual behaviour measurement
EFO:0006946	EFO:0007877	\N	"quantification of some aspect of behavioural disinhibition, including risky and impulsive behaviours. Behavioural disinhibition can be a marker for certain kinds of mental or behavioural disorders." []	EFO:0007877	"quantification of some aspect of risky sexual behaviour such as frequency of unprotected sexual intercourse and number of sexual partners within a given time frame" []	211259	\N	\N	EFO	1	EFO	behavioural disinhibition measurement	risky sexual behaviour measurement
EFO:0006848	EFO:0006946	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007877	"quantification of some aspect of risky sexual behaviour such as frequency of unprotected sexual intercourse and number of sexual partners within a given time frame" []	564517	\N	\N	EFO	2	EFO	mental or behavioural disorder biomarker	risky sexual behaviour measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007877	"quantification of some aspect of risky sexual behaviour such as frequency of unprotected sexual intercourse and number of sexual partners within a given time frame" []	1145695	\N	\N	EFO	3	EFO	measurement	risky sexual behaviour measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007877	"quantification of some aspect of risky sexual behaviour such as frequency of unprotected sexual intercourse and number of sexual partners within a given time frame" []	2028161	\N	\N	EFO	4	EFO	information entity	risky sexual behaviour measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007877	"quantification of some aspect of risky sexual behaviour such as frequency of unprotected sexual intercourse and number of sexual partners within a given time frame" []	3179400	\N	\N	EFO	5	EFO	experimental factor	risky sexual behaviour measurement
EFO:0007878	\N	\N	"quantification of some aspect of alcohol consumption such as frequency or quantity" []	EFO:0007878	"quantification of some aspect of alcohol consumption such as frequency or quantity" []	69115	\N	\N	EFO	0	EFO	alcohol consumption measurement	alcohol consumption measurement
EFO:0001444	EFO:0007878	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007878	"quantification of some aspect of alcohol consumption such as frequency or quantity" []	211260	\N	\N	EFO	1	EFO	measurement	alcohol consumption measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007878	"quantification of some aspect of alcohol consumption such as frequency or quantity" []	564518	\N	\N	EFO	2	EFO	information entity	alcohol consumption measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007878	"quantification of some aspect of alcohol consumption such as frequency or quantity" []	1145696	\N	\N	EFO	3	EFO	experimental factor	alcohol consumption measurement
EFO:0007879	\N	\N	"physical trait of the small toe, where a minuscule \\"sixth toenail\\" is present in the outer corner of the nail situated on the smallest toe" []	EFO:0007879	"physical trait of the small toe, where a minuscule \\"sixth toenail\\" is present in the outer corner of the nail situated on the smallest toe" []	69116	\N	\N	EFO	0	EFO	petaloid toenail	petaloid toenail
HP:0008388	\N	\N	"An anomaly of the toenail." [HPO:probinson]	EFO:0007879	"physical trait of the small toe, where a minuscule \\"sixth toenail\\" is present in the outer corner of the nail situated on the smallest toe" []	194917	\N	\N	EFO	0	EFO	Abnormal toenail morphology	petaloid toenail
EFO:0007880	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vaccination treatment with dendritic cell-based immunotherapy. Dendritic cells (DCs) play a crucial role in the induction of antigen-specific T-cell responses, and their use for the active immunotherapy of malignancies and HIV is showing promising results." []	EFO:0007880	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vaccination treatment with dendritic cell-based immunotherapy. Dendritic cells (DCs) play a crucial role in the induction of antigen-specific T-cell responses, and their use for the active immunotherapy of malignancies and HIV is showing promising results." []	69117	\N	\N	EFO	0	EFO	response to dendritic cell-based immunotherapy	response to dendritic cell-based immunotherapy
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007880	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vaccination treatment with dendritic cell-based immunotherapy. Dendritic cells (DCs) play a crucial role in the induction of antigen-specific T-cell responses, and their use for the active immunotherapy of malignancies and HIV is showing promising results." []	194918	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to dendritic cell-based immunotherapy
EFO:0007881	\N	\N	"quantification of some aspect of job-related exhaustion such as severity or duration" []	EFO:0007881	"quantification of some aspect of job-related exhaustion such as severity or duration" []	69118	\N	\N	EFO	0	EFO	job-related exhaustion measurement	job-related exhaustion measurement
EFO:0001444	EFO:0007881	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007881	"quantification of some aspect of job-related exhaustion such as severity or duration" []	211261	\N	\N	EFO	1	EFO	measurement	job-related exhaustion measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007881	"quantification of some aspect of job-related exhaustion such as severity or duration" []	564519	\N	\N	EFO	2	EFO	information entity	job-related exhaustion measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007881	"quantification of some aspect of job-related exhaustion such as severity or duration" []	1145697	\N	\N	EFO	3	EFO	experimental factor	job-related exhaustion measurement
EFO:0007882	\N	\N	"quantification of some aspect of an individual's microbiome" []	EFO:0007882	"quantification of some aspect of an individual's microbiome" []	69119	\N	\N	EFO	0	EFO	microbiome measurement	microbiome measurement
EFO:0004557	EFO:0007882	\N	"Is the quantification of some measureable quality of a population e.g. birth rate." []	EFO:0007882	"quantification of some aspect of an individual's microbiome" []	211262	\N	\N	EFO	1	EFO	population measurement	microbiome measurement
EFO:0001444	EFO:0004557	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007882	"quantification of some aspect of an individual's microbiome" []	564520	\N	\N	EFO	2	EFO	measurement	microbiome measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007882	"quantification of some aspect of an individual's microbiome" []	1145698	\N	\N	EFO	3	EFO	information entity	microbiome measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007882	"quantification of some aspect of an individual's microbiome" []	2028162	\N	\N	EFO	4	EFO	experimental factor	microbiome measurement
EFO:0007883	\N	\N	"quantification of the taxonomic variation in a microbiome sample" []	EFO:0007883	"quantification of the taxonomic variation in a microbiome sample" []	69120	\N	\N	EFO	0	EFO	taxonomic microbiome measurement	taxonomic microbiome measurement
EFO:0007882	EFO:0007883	\N	"quantification of some aspect of an individual's microbiome" []	EFO:0007883	"quantification of the taxonomic variation in a microbiome sample" []	211263	\N	\N	EFO	1	EFO	microbiome measurement	taxonomic microbiome measurement
EFO:0004557	EFO:0007882	\N	"Is the quantification of some measureable quality of a population e.g. birth rate." []	EFO:0007883	"quantification of the taxonomic variation in a microbiome sample" []	564521	\N	\N	EFO	2	EFO	population measurement	taxonomic microbiome measurement
EFO:0001444	EFO:0004557	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007883	"quantification of the taxonomic variation in a microbiome sample" []	1145699	\N	\N	EFO	3	EFO	measurement	taxonomic microbiome measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007883	"quantification of the taxonomic variation in a microbiome sample" []	2028163	\N	\N	EFO	4	EFO	information entity	taxonomic microbiome measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007883	"quantification of the taxonomic variation in a microbiome sample" []	3179401	\N	\N	EFO	5	EFO	experimental factor	taxonomic microbiome measurement
EFO:0007884	\N	\N	"quantification of the functional variation in a microbiome" []	EFO:0007884	"quantification of the functional variation in a microbiome" []	69121	\N	\N	EFO	0	EFO	functional microbiome measurement	functional microbiome measurement
EFO:0007882	EFO:0007884	\N	"quantification of some aspect of an individual's microbiome" []	EFO:0007884	"quantification of the functional variation in a microbiome" []	211264	\N	\N	EFO	1	EFO	microbiome measurement	functional microbiome measurement
EFO:0004557	EFO:0007882	\N	"Is the quantification of some measureable quality of a population e.g. birth rate." []	EFO:0007884	"quantification of the functional variation in a microbiome" []	564522	\N	\N	EFO	2	EFO	population measurement	functional microbiome measurement
EFO:0001444	EFO:0004557	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007884	"quantification of the functional variation in a microbiome" []	1145700	\N	\N	EFO	3	EFO	measurement	functional microbiome measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007884	"quantification of the functional variation in a microbiome" []	2028164	\N	\N	EFO	4	EFO	information entity	functional microbiome measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007884	"quantification of the functional variation in a microbiome" []	3179402	\N	\N	EFO	5	EFO	experimental factor	functional microbiome measurement
EFO:0007885	\N	\N	"measurement of the repolarisation phase of the heart's electrical cycle, defined as the difference between the duration of the QT interval and duration of the QRS interval" []	EFO:0007885	"measurement of the repolarisation phase of the heart's electrical cycle, defined as the difference between the duration of the QT interval and duration of the QRS interval" []	69122	\N	\N	EFO	0	EFO	JT interval	JT interval
EFO:0004327	EFO:0007885	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0007885	"measurement of the repolarisation phase of the heart's electrical cycle, defined as the difference between the duration of the QT interval and duration of the QRS interval" []	211265	\N	\N	EFO	1	EFO	electrocardiography	JT interval
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0007885	"measurement of the repolarisation phase of the heart's electrical cycle, defined as the difference between the duration of the QT interval and duration of the QRS interval" []	564523	\N	\N	EFO	2	EFO	heart function measurement	JT interval
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0007885	"measurement of the repolarisation phase of the heart's electrical cycle, defined as the difference between the duration of the QT interval and duration of the QRS interval" []	1145701	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	JT interval
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0007885	"measurement of the repolarisation phase of the heart's electrical cycle, defined as the difference between the duration of the QT interval and duration of the QRS interval" []	2028165	\N	\N	EFO	4	EFO	cardiovascular measurement	JT interval
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007885	"measurement of the repolarisation phase of the heart's electrical cycle, defined as the difference between the duration of the QT interval and duration of the QRS interval" []	3179403	\N	\N	EFO	5	EFO	measurement	JT interval
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007885	"measurement of the repolarisation phase of the heart's electrical cycle, defined as the difference between the duration of the QT interval and duration of the QRS interval" []	4388758	\N	\N	EFO	6	EFO	information entity	JT interval
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007885	"measurement of the repolarisation phase of the heart's electrical cycle, defined as the difference between the duration of the QT interval and duration of the QRS interval" []	5408978	\N	\N	EFO	7	EFO	experimental factor	JT interval
EFO:0007886	\N	\N	"quantification in a sample of the organochlorine pesticide dichlorodiphenyltrichloroethane (DDT) or any metabolite derived from DDT, eg 2, 2-bis (4-chlorophenyl)-1, 1-dichloroethene (p,p?-DDE)" []	EFO:0007886	"quantification in a sample of the organochlorine pesticide dichlorodiphenyltrichloroethane (DDT) or any metabolite derived from DDT, eg 2, 2-bis (4-chlorophenyl)-1, 1-dichloroethene (p,p?-DDE)" []	69123	\N	\N	EFO	0	EFO	DDT metabolite measurement	DDT metabolite measurement
EFO:0004725	EFO:0007886	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0007886	"quantification in a sample of the organochlorine pesticide dichlorodiphenyltrichloroethane (DDT) or any metabolite derived from DDT, eg 2, 2-bis (4-chlorophenyl)-1, 1-dichloroethene (p,p?-DDE)" []	211266	\N	\N	EFO	1	EFO	metabolite measurement	DDT metabolite measurement
EFO:0007960	EFO:0007886	\N	"quantification of organochlorine pesticides or metabolites derived from organochloride pesticides in a sample" []	EFO:0007886	"quantification in a sample of the organochlorine pesticide dichlorodiphenyltrichloroethane (DDT) or any metabolite derived from DDT, eg 2, 2-bis (4-chlorophenyl)-1, 1-dichloroethene (p,p?-DDE)" []	211267	\N	\N	EFO	1	EFO	organochlorine pesticide measurement	DDT metabolite measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007886	"quantification in a sample of the organochlorine pesticide dichlorodiphenyltrichloroethane (DDT) or any metabolite derived from DDT, eg 2, 2-bis (4-chlorophenyl)-1, 1-dichloroethene (p,p?-DDE)" []	564524	\N	\N	EFO	2	EFO	measurement	DDT metabolite measurement
EFO:0001444	EFO:0007960	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007886	"quantification in a sample of the organochlorine pesticide dichlorodiphenyltrichloroethane (DDT) or any metabolite derived from DDT, eg 2, 2-bis (4-chlorophenyl)-1, 1-dichloroethene (p,p?-DDE)" []	564525	\N	\N	EFO	2	EFO	measurement	DDT metabolite measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007886	"quantification in a sample of the organochlorine pesticide dichlorodiphenyltrichloroethane (DDT) or any metabolite derived from DDT, eg 2, 2-bis (4-chlorophenyl)-1, 1-dichloroethene (p,p?-DDE)" []	1145702	\N	\N	EFO	3	EFO	information entity	DDT metabolite measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007886	"quantification in a sample of the organochlorine pesticide dichlorodiphenyltrichloroethane (DDT) or any metabolite derived from DDT, eg 2, 2-bis (4-chlorophenyl)-1, 1-dichloroethene (p,p?-DDE)" []	2028166	\N	\N	EFO	4	EFO	experimental factor	DDT metabolite measurement
EFO:0007887	\N	\N	"condition that causes variable difficulty to control sneezing in response to numerous stimuli, such as looking at bright lights or periocular (surrounding the eyeball) injection" []	EFO:0007887	"condition that causes variable difficulty to control sneezing in response to numerous stimuli, such as looking at bright lights or periocular (surrounding the eyeball) injection" []	69124	\N	\N	EFO	0	EFO	autosomal dominant compelling helio-ophthalmic outburst syndrome	autosomal dominant compelling helio-ophthalmic outburst syndrome
HP:0025095	\N	\N	"A sudden violent, spasmodic, audible expiration of breath through the nose and mouth." []	EFO:0007887	"condition that causes variable difficulty to control sneezing in response to numerous stimuli, such as looking at bright lights or periocular (surrounding the eyeball) injection" []	194919	\N	\N	EFO	0	EFO	Sneeze	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0007888	\N	\N	"The age of onset of (human) voice drop, the deepening of the voice of adolescents as they reach puberty" []	EFO:0007888	"The age of onset of (human) voice drop, the deepening of the voice of adolescents as they reach puberty" []	69125	\N	\N	EFO	0	EFO	age at voice drop	age at voice drop
EFO:0000246	EFO:0007888	\N	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	EFO:0007888	"The age of onset of (human) voice drop, the deepening of the voice of adolescents as they reach puberty" []	211268	\N	\N	EFO	1	EFO	age	age at voice drop
EFO:0000719	EFO:0000246	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0007888	"The age of onset of (human) voice drop, the deepening of the voice of adolescents as they reach puberty" []	564526	\N	\N	EFO	2	EFO	temporal measurement	age at voice drop
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007888	"The age of onset of (human) voice drop, the deepening of the voice of adolescents as they reach puberty" []	1145703	\N	\N	EFO	3	EFO	measurement	age at voice drop
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007888	"The age of onset of (human) voice drop, the deepening of the voice of adolescents as they reach puberty" []	2028167	\N	\N	EFO	4	EFO	information entity	age at voice drop
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007888	"The age of onset of (human) voice drop, the deepening of the voice of adolescents as they reach puberty" []	3179404	\N	\N	EFO	5	EFO	experimental factor	age at voice drop
EFO:0007889	\N	\N	"quantification of some aspect of dysmenorrheic pain (menstrual cramps), such as their severity or duration" []	EFO:0007889	"quantification of some aspect of dysmenorrheic pain (menstrual cramps), such as their severity or duration" []	69126	\N	\N	EFO	0	EFO	dysmenorrheic pain measurement	dysmenorrheic pain measurement
EFO:0001444	EFO:0007889	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007889	"quantification of some aspect of dysmenorrheic pain (menstrual cramps), such as their severity or duration" []	211269	\N	\N	EFO	1	EFO	measurement	dysmenorrheic pain measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007889	"quantification of some aspect of dysmenorrheic pain (menstrual cramps), such as their severity or duration" []	564527	\N	\N	EFO	2	EFO	information entity	dysmenorrheic pain measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007889	"quantification of some aspect of dysmenorrheic pain (menstrual cramps), such as their severity or duration" []	1145704	\N	\N	EFO	3	EFO	experimental factor	dysmenorrheic pain measurement
EFO:0007890	\N	\N	"quantification of adipose tissue located around the heart" []	EFO:0007890	"quantification of adipose tissue located around the heart" []	69127	\N	\N	EFO	0	EFO	pericardial adipose tissue measurement	pericardial adipose tissue measurement
EFO:0004764	EFO:0007890	\N	"Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity." []	EFO:0007890	"quantification of adipose tissue located around the heart" []	211270	\N	\N	EFO	1	EFO	adipose tissue measurement	pericardial adipose tissue measurement
EFO:0004302	EFO:0004764	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0007890	"quantification of adipose tissue located around the heart" []	564528	\N	\N	EFO	2	EFO	anthropometric measurement	pericardial adipose tissue measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007890	"quantification of adipose tissue located around the heart" []	1145705	\N	\N	EFO	3	EFO	measurement	pericardial adipose tissue measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007890	"quantification of adipose tissue located around the heart" []	2028168	\N	\N	EFO	4	EFO	information entity	pericardial adipose tissue measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007890	"quantification of adipose tissue located around the heart" []	3179405	\N	\N	EFO	5	EFO	experimental factor	pericardial adipose tissue measurement
EFO:0007891	\N	\N	"quantification of epidermal permeability barrier status, for example using transepidermal water loss, the passive diffusion of water from the hydrated layers of the dermis and epidermis towards those layers with a lower water content" []	EFO:0007891	"quantification of epidermal permeability barrier status, for example using transepidermal water loss, the passive diffusion of water from the hydrated layers of the dermis and epidermis towards those layers with a lower water content" []	69128	\N	\N	EFO	0	EFO	skin barrier function measurement	skin barrier function measurement
EFO:0001444	EFO:0007891	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007891	"quantification of epidermal permeability barrier status, for example using transepidermal water loss, the passive diffusion of water from the hydrated layers of the dermis and epidermis towards those layers with a lower water content" []	211271	\N	\N	EFO	1	EFO	measurement	skin barrier function measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007891	"quantification of epidermal permeability barrier status, for example using transepidermal water loss, the passive diffusion of water from the hydrated layers of the dermis and epidermis towards those layers with a lower water content" []	564529	\N	\N	EFO	2	EFO	information entity	skin barrier function measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007891	"quantification of epidermal permeability barrier status, for example using transepidermal water loss, the passive diffusion of water from the hydrated layers of the dermis and epidermis towards those layers with a lower water content" []	1145706	\N	\N	EFO	3	EFO	experimental factor	skin barrier function measurement
EFO:0007892	\N	\N	"quantification of the effect of the donor genotype on the success of an organ or tissue transplant" []	EFO:0007892	"quantification of the effect of the donor genotype on the success of an organ or tissue transplant" []	69129	\N	\N	EFO	0	EFO	donor genotype effect measurement	donor genotype effect measurement
EFO:0007958	EFO:0007892	\N	"quantification of the effect of an external genotype, eg from a parent/fetus during pregnancy or organ donor, on some aspect of an individual's metabolic processes" []	EFO:0007892	"quantification of the effect of the donor genotype on the success of an organ or tissue transplant" []	211272	\N	\N	EFO	1	EFO	genotype effect measurement	donor genotype effect measurement
EFO:0001444	EFO:0007958	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007892	"quantification of the effect of the donor genotype on the success of an organ or tissue transplant" []	564530	\N	\N	EFO	2	EFO	measurement	donor genotype effect measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007892	"quantification of the effect of the donor genotype on the success of an organ or tissue transplant" []	1145707	\N	\N	EFO	3	EFO	information entity	donor genotype effect measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007892	"quantification of the effect of the donor genotype on the success of an organ or tissue transplant" []	2028169	\N	\N	EFO	4	EFO	experimental factor	donor genotype effect measurement
EFO:0007893	\N	\N	"quantification in a sample (eg blood) of alpha-carotene, the second most common form of carotene, with a ?-ionone ring at one end and an ?-ionone ring at the opposite end" []	EFO:0007893	"quantification in a sample (eg blood) of alpha-carotene, the second most common form of carotene, with a ?-ionone ring at one end and an ?-ionone ring at the opposite end" []	69130	\N	\N	EFO	0	EFO	alpha-carotene measurement	alpha-carotene measurement
EFO:0004737	EFO:0007893	\N	"Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations." []	EFO:0007893	"quantification in a sample (eg blood) of alpha-carotene, the second most common form of carotene, with a ?-ionone ring at one end and an ?-ionone ring at the opposite end" []	211273	\N	\N	EFO	1	EFO	carotenoid measurement	alpha-carotene measurement
EFO:0001444	EFO:0004737	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007893	"quantification in a sample (eg blood) of alpha-carotene, the second most common form of carotene, with a ?-ionone ring at one end and an ?-ionone ring at the opposite end" []	564531	\N	\N	EFO	2	EFO	measurement	alpha-carotene measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007893	"quantification in a sample (eg blood) of alpha-carotene, the second most common form of carotene, with a ?-ionone ring at one end and an ?-ionone ring at the opposite end" []	1145708	\N	\N	EFO	3	EFO	information entity	alpha-carotene measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007893	"quantification in a sample (eg blood) of alpha-carotene, the second most common form of carotene, with a ?-ionone ring at one end and an ?-ionone ring at the opposite end" []	2028170	\N	\N	EFO	4	EFO	experimental factor	alpha-carotene measurement
EFO:0007894	\N	\N	"quantification in a sample (eg blood) of beta-carotene, an organic, strongly colored red-orange pigment abundant in plants and fruits. Among the carotenes, ?-carotene is distinguished by having beta-rings at both ends of the molecule. ?-Carotene is biosynthesized from geranylgeranyl pyrophosphate." []	EFO:0007894	"quantification in a sample (eg blood) of beta-carotene, an organic, strongly colored red-orange pigment abundant in plants and fruits. Among the carotenes, ?-carotene is distinguished by having beta-rings at both ends of the molecule. ?-Carotene is biosynthesized from geranylgeranyl pyrophosphate." []	69131	\N	\N	EFO	0	EFO	beta-carotene measurement	beta-carotene measurement
EFO:0004737	EFO:0007894	\N	"Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations." []	EFO:0007894	"quantification in a sample (eg blood) of beta-carotene, an organic, strongly colored red-orange pigment abundant in plants and fruits. Among the carotenes, ?-carotene is distinguished by having beta-rings at both ends of the molecule. ?-Carotene is biosynthesized from geranylgeranyl pyrophosphate." []	211274	\N	\N	EFO	1	EFO	carotenoid measurement	beta-carotene measurement
EFO:0001444	EFO:0004737	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007894	"quantification in a sample (eg blood) of beta-carotene, an organic, strongly colored red-orange pigment abundant in plants and fruits. Among the carotenes, ?-carotene is distinguished by having beta-rings at both ends of the molecule. ?-Carotene is biosynthesized from geranylgeranyl pyrophosphate." []	564532	\N	\N	EFO	2	EFO	measurement	beta-carotene measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007894	"quantification in a sample (eg blood) of beta-carotene, an organic, strongly colored red-orange pigment abundant in plants and fruits. Among the carotenes, ?-carotene is distinguished by having beta-rings at both ends of the molecule. ?-Carotene is biosynthesized from geranylgeranyl pyrophosphate." []	1145709	\N	\N	EFO	3	EFO	information entity	beta-carotene measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007894	"quantification in a sample (eg blood) of beta-carotene, an organic, strongly colored red-orange pigment abundant in plants and fruits. Among the carotenes, ?-carotene is distinguished by having beta-rings at both ends of the molecule. ?-Carotene is biosynthesized from geranylgeranyl pyrophosphate." []	2028171	\N	\N	EFO	4	EFO	experimental factor	beta-carotene measurement
EFO:0007895	\N	\N	"quantification in a sample (eg blood) of lutein, a xanthophyll and one of 600 known naturally occurring carotenoids. Lutein is synthesized only by plants and like other xanthophylls is found in high quantities in green leafy vegetables such as spinach, kale and yellow carrots." []	EFO:0007895	"quantification in a sample (eg blood) of lutein, a xanthophyll and one of 600 known naturally occurring carotenoids. Lutein is synthesized only by plants and like other xanthophylls is found in high quantities in green leafy vegetables such as spinach, kale and yellow carrots." []	69132	\N	\N	EFO	0	EFO	lutein measurement	lutein measurement
EFO:0004737	EFO:0007895	\N	"Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations." []	EFO:0007895	"quantification in a sample (eg blood) of lutein, a xanthophyll and one of 600 known naturally occurring carotenoids. Lutein is synthesized only by plants and like other xanthophylls is found in high quantities in green leafy vegetables such as spinach, kale and yellow carrots." []	211275	\N	\N	EFO	1	EFO	carotenoid measurement	lutein measurement
EFO:0001444	EFO:0004737	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007895	"quantification in a sample (eg blood) of lutein, a xanthophyll and one of 600 known naturally occurring carotenoids. Lutein is synthesized only by plants and like other xanthophylls is found in high quantities in green leafy vegetables such as spinach, kale and yellow carrots." []	564533	\N	\N	EFO	2	EFO	measurement	lutein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007895	"quantification in a sample (eg blood) of lutein, a xanthophyll and one of 600 known naturally occurring carotenoids. Lutein is synthesized only by plants and like other xanthophylls is found in high quantities in green leafy vegetables such as spinach, kale and yellow carrots." []	1145710	\N	\N	EFO	3	EFO	information entity	lutein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007895	"quantification in a sample (eg blood) of lutein, a xanthophyll and one of 600 known naturally occurring carotenoids. Lutein is synthesized only by plants and like other xanthophylls is found in high quantities in green leafy vegetables such as spinach, kale and yellow carrots." []	2028172	\N	\N	EFO	4	EFO	experimental factor	lutein measurement
EFO:0007896	\N	\N	"quantification in a sample (eg blood) of zeaxanthin, one of the most common carotenoid alcohols found in nature and the pigment that gives paprika, corn, saffron, wolfberries, and many other plants and microbes their characteristic color" []	EFO:0007896	"quantification in a sample (eg blood) of zeaxanthin, one of the most common carotenoid alcohols found in nature and the pigment that gives paprika, corn, saffron, wolfberries, and many other plants and microbes their characteristic color" []	69133	\N	\N	EFO	0	EFO	zeaxanthin measurement	zeaxanthin measurement
EFO:0004737	EFO:0007896	\N	"Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations." []	EFO:0007896	"quantification in a sample (eg blood) of zeaxanthin, one of the most common carotenoid alcohols found in nature and the pigment that gives paprika, corn, saffron, wolfberries, and many other plants and microbes their characteristic color" []	211276	\N	\N	EFO	1	EFO	carotenoid measurement	zeaxanthin measurement
EFO:0001444	EFO:0004737	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007896	"quantification in a sample (eg blood) of zeaxanthin, one of the most common carotenoid alcohols found in nature and the pigment that gives paprika, corn, saffron, wolfberries, and many other plants and microbes their characteristic color" []	564534	\N	\N	EFO	2	EFO	measurement	zeaxanthin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007896	"quantification in a sample (eg blood) of zeaxanthin, one of the most common carotenoid alcohols found in nature and the pigment that gives paprika, corn, saffron, wolfberries, and many other plants and microbes their characteristic color" []	1145711	\N	\N	EFO	3	EFO	information entity	zeaxanthin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007896	"quantification in a sample (eg blood) of zeaxanthin, one of the most common carotenoid alcohols found in nature and the pigment that gives paprika, corn, saffron, wolfberries, and many other plants and microbes their characteristic color" []	2028173	\N	\N	EFO	4	EFO	experimental factor	zeaxanthin measurement
EFO:0007897	\N	\N	"quantification in a sample (eg blood) of cryptoxanthin, a carotenoid closely related in terms of structure to beta-carotene and that has been isolated from a variety of sources including the petals and flowers of plants in the genus Physalis, orange rind, papaya, egg yolk, butter, apples, and bovine blood serum" []	EFO:0007897	"quantification in a sample (eg blood) of cryptoxanthin, a carotenoid closely related in terms of structure to beta-carotene and that has been isolated from a variety of sources including the petals and flowers of plants in the genus Physalis, orange rind, papaya, egg yolk, butter, apples, and bovine blood serum" []	69134	\N	\N	EFO	0	EFO	cryptoxanthin measurement	cryptoxanthin measurement
EFO:0004737	EFO:0007897	\N	"Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations." []	EFO:0007897	"quantification in a sample (eg blood) of cryptoxanthin, a carotenoid closely related in terms of structure to beta-carotene and that has been isolated from a variety of sources including the petals and flowers of plants in the genus Physalis, orange rind, papaya, egg yolk, butter, apples, and bovine blood serum" []	211277	\N	\N	EFO	1	EFO	carotenoid measurement	cryptoxanthin measurement
EFO:0001444	EFO:0004737	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007897	"quantification in a sample (eg blood) of cryptoxanthin, a carotenoid closely related in terms of structure to beta-carotene and that has been isolated from a variety of sources including the petals and flowers of plants in the genus Physalis, orange rind, papaya, egg yolk, butter, apples, and bovine blood serum" []	564535	\N	\N	EFO	2	EFO	measurement	cryptoxanthin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007897	"quantification in a sample (eg blood) of cryptoxanthin, a carotenoid closely related in terms of structure to beta-carotene and that has been isolated from a variety of sources including the petals and flowers of plants in the genus Physalis, orange rind, papaya, egg yolk, butter, apples, and bovine blood serum" []	1145712	\N	\N	EFO	3	EFO	information entity	cryptoxanthin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007897	"quantification in a sample (eg blood) of cryptoxanthin, a carotenoid closely related in terms of structure to beta-carotene and that has been isolated from a variety of sources including the petals and flowers of plants in the genus Physalis, orange rind, papaya, egg yolk, butter, apples, and bovine blood serum" []	2028174	\N	\N	EFO	4	EFO	experimental factor	cryptoxanthin measurement
EFO:0007898	\N	\N	"quantification in a sample of alpha-tocopherol, a form of vitamin E that is preferentially absorbed and accumulated in humans" []	EFO:0007898	"quantification in a sample of alpha-tocopherol, a form of vitamin E that is preferentially absorbed and accumulated in humans" []	69135	\N	\N	EFO	0	EFO	alpha-tocopherol measurement	alpha-tocopherol measurement
EFO:0004738	EFO:0007898	\N	"Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that  tocotrienols also have vitamin E function)." []	EFO:0007898	"quantification in a sample of alpha-tocopherol, a form of vitamin E that is preferentially absorbed and accumulated in humans" []	211278	\N	\N	EFO	1	EFO	tocopherol measurement	alpha-tocopherol measurement
EFO:0004867	EFO:0004738	\N	"Is a quantification of vitamin E." []	EFO:0007898	"quantification in a sample of alpha-tocopherol, a form of vitamin E that is preferentially absorbed and accumulated in humans" []	564536	\N	\N	EFO	2	EFO	vitamin E measurement	alpha-tocopherol measurement
EFO:0004729	EFO:0004867	\N	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	EFO:0007898	"quantification in a sample of alpha-tocopherol, a form of vitamin E that is preferentially absorbed and accumulated in humans" []	1145713	\N	\N	EFO	3	EFO	vitamin measurement	alpha-tocopherol measurement
EFO:0001444	EFO:0004729	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007898	"quantification in a sample of alpha-tocopherol, a form of vitamin E that is preferentially absorbed and accumulated in humans" []	2028175	\N	\N	EFO	4	EFO	measurement	alpha-tocopherol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007898	"quantification in a sample of alpha-tocopherol, a form of vitamin E that is preferentially absorbed and accumulated in humans" []	3179406	\N	\N	EFO	5	EFO	information entity	alpha-tocopherol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007898	"quantification in a sample of alpha-tocopherol, a form of vitamin E that is preferentially absorbed and accumulated in humans" []	4388759	\N	\N	EFO	6	EFO	experimental factor	alpha-tocopherol measurement
EFO:0007899	\N	\N	"quantification in a sample of gamma-tocopherol" []	EFO:0007899	"quantification in a sample of gamma-tocopherol" []	69136	\N	\N	EFO	0	EFO	gamma-tocopherol measurement	gamma-tocopherol measurement
EFO:0004738	EFO:0007899	\N	"Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that  tocotrienols also have vitamin E function)." []	EFO:0007899	"quantification in a sample of gamma-tocopherol" []	211279	\N	\N	EFO	1	EFO	tocopherol measurement	gamma-tocopherol measurement
EFO:0004867	EFO:0004738	\N	"Is a quantification of vitamin E." []	EFO:0007899	"quantification in a sample of gamma-tocopherol" []	564537	\N	\N	EFO	2	EFO	vitamin E measurement	gamma-tocopherol measurement
EFO:0004729	EFO:0004867	\N	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	EFO:0007899	"quantification in a sample of gamma-tocopherol" []	1145714	\N	\N	EFO	3	EFO	vitamin measurement	gamma-tocopherol measurement
EFO:0001444	EFO:0004729	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007899	"quantification in a sample of gamma-tocopherol" []	2028176	\N	\N	EFO	4	EFO	measurement	gamma-tocopherol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007899	"quantification in a sample of gamma-tocopherol" []	3179407	\N	\N	EFO	5	EFO	information entity	gamma-tocopherol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007899	"quantification in a sample of gamma-tocopherol" []	4388760	\N	\N	EFO	6	EFO	experimental factor	gamma-tocopherol measurement
EFO:0007900	\N	\N	"quantification in a sample (eg blood) of retinol, a vitamin A retinoid synthesized from the breakdown of ?-carotene" []	EFO:0007900	"quantification in a sample (eg blood) of retinol, a vitamin A retinoid synthesized from the breakdown of ?-carotene" []	69137	\N	\N	EFO	0	EFO	retinol measurement	retinol measurement
EFO:0004857	EFO:0007900	\N	"Is the quantification of any vitamin A compound." []	EFO:0007900	"quantification in a sample (eg blood) of retinol, a vitamin A retinoid synthesized from the breakdown of ?-carotene" []	211280	\N	\N	EFO	1	EFO	vitamin A measurement	retinol measurement
EFO:0004729	EFO:0004857	\N	"The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet." []	EFO:0007900	"quantification in a sample (eg blood) of retinol, a vitamin A retinoid synthesized from the breakdown of ?-carotene" []	564538	\N	\N	EFO	2	EFO	vitamin measurement	retinol measurement
EFO:0001444	EFO:0004729	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007900	"quantification in a sample (eg blood) of retinol, a vitamin A retinoid synthesized from the breakdown of ?-carotene" []	1145715	\N	\N	EFO	3	EFO	measurement	retinol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007900	"quantification in a sample (eg blood) of retinol, a vitamin A retinoid synthesized from the breakdown of ?-carotene" []	2028177	\N	\N	EFO	4	EFO	information entity	retinol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007900	"quantification in a sample (eg blood) of retinol, a vitamin A retinoid synthesized from the breakdown of ?-carotene" []	3179408	\N	\N	EFO	5	EFO	experimental factor	retinol measurement
EFO:0007901	\N	\N	"quantification of the ratio of hepcidin to ferritin in a sample" []	EFO:0007901	"quantification of the ratio of hepcidin to ferritin in a sample" []	69138	\N	\N	EFO	0	EFO	hepcidin:ferritin ratio	hepcidin:ferritin ratio
EFO:0004461	EFO:0007901	\N	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	EFO:0007901	"quantification of the ratio of hepcidin to ferritin in a sample" []	211281	\N	\N	EFO	1	EFO	iron biomarker measurement	hepcidin:ferritin ratio
EFO:0001444	EFO:0004461	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007901	"quantification of the ratio of hepcidin to ferritin in a sample" []	564539	\N	\N	EFO	2	EFO	measurement	hepcidin:ferritin ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007901	"quantification of the ratio of hepcidin to ferritin in a sample" []	1145716	\N	\N	EFO	3	EFO	information entity	hepcidin:ferritin ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007901	"quantification of the ratio of hepcidin to ferritin in a sample" []	2028178	\N	\N	EFO	4	EFO	experimental factor	hepcidin:ferritin ratio
EFO:0007902	\N	\N	"quantification of the ratio of hepcidin to transferrin saturation, the amount of iron bound to transferrin, in a sample" []	EFO:0007902	"quantification of the ratio of hepcidin to transferrin saturation, the amount of iron bound to transferrin, in a sample" []	69139	\N	\N	EFO	0	EFO	hepcidin:transferrin saturation ratio	hepcidin:transferrin saturation ratio
EFO:0004461	EFO:0007902	\N	"An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism" []	EFO:0007902	"quantification of the ratio of hepcidin to transferrin saturation, the amount of iron bound to transferrin, in a sample" []	211282	\N	\N	EFO	1	EFO	iron biomarker measurement	hepcidin:transferrin saturation ratio
EFO:0001444	EFO:0004461	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007902	"quantification of the ratio of hepcidin to transferrin saturation, the amount of iron bound to transferrin, in a sample" []	564540	\N	\N	EFO	2	EFO	measurement	hepcidin:transferrin saturation ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007902	"quantification of the ratio of hepcidin to transferrin saturation, the amount of iron bound to transferrin, in a sample" []	1145717	\N	\N	EFO	3	EFO	information entity	hepcidin:transferrin saturation ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007902	"quantification of the ratio of hepcidin to transferrin saturation, the amount of iron bound to transferrin, in a sample" []	2028179	\N	\N	EFO	4	EFO	experimental factor	hepcidin:transferrin saturation ratio
EFO:0007903	\N	\N	"quantification of the ratio of magnesium to calcium in a sample, typically a urine sample, a proxy measure for the differential handling by the renal tubule and excretion of Ca2+ and Mg2+" []	EFO:0007903	"quantification of the ratio of magnesium to calcium in a sample, typically a urine sample, a proxy measure for the differential handling by the renal tubule and excretion of Ca2+ and Mg2+" []	69140	\N	\N	EFO	0	EFO	magnesium:calcium ratio	magnesium:calcium ratio
EFO:0004838	EFO:0007903	\N	"Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation." []	EFO:0007903	"quantification of the ratio of magnesium to calcium in a sample, typically a urine sample, a proxy measure for the differential handling by the renal tubule and excretion of Ca2+ and Mg2+" []	211283	\N	\N	EFO	1	EFO	calcium measurement	magnesium:calcium ratio
EFO:0001444	EFO:0004838	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007903	"quantification of the ratio of magnesium to calcium in a sample, typically a urine sample, a proxy measure for the differential handling by the renal tubule and excretion of Ca2+ and Mg2+" []	564541	\N	\N	EFO	2	EFO	measurement	magnesium:calcium ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007903	"quantification of the ratio of magnesium to calcium in a sample, typically a urine sample, a proxy measure for the differential handling by the renal tubule and excretion of Ca2+ and Mg2+" []	1145718	\N	\N	EFO	3	EFO	information entity	magnesium:calcium ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007903	"quantification of the ratio of magnesium to calcium in a sample, typically a urine sample, a proxy measure for the differential handling by the renal tubule and excretion of Ca2+ and Mg2+" []	2028180	\N	\N	EFO	4	EFO	experimental factor	magnesium:calcium ratio
EFO:0007904	\N	\N	"quantification of an individual's susceptibility to childhood ear infections, generally as a count of number of infections suffered or a binary scale of presence or absence of childhood ear infections" []	EFO:0007904	"quantification of an individual's susceptibility to childhood ear infections, generally as a count of number of infections suffered or a binary scale of presence or absence of childhood ear infections" []	69141	\N	\N	EFO	0	EFO	suscepibility to childhood ear infection measurement	suscepibility to childhood ear infection measurement
EFO:0001444	EFO:0007904	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007904	"quantification of an individual's susceptibility to childhood ear infections, generally as a count of number of infections suffered or a binary scale of presence or absence of childhood ear infections" []	211284	\N	\N	EFO	1	EFO	measurement	suscepibility to childhood ear infection measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007904	"quantification of an individual's susceptibility to childhood ear infections, generally as a count of number of infections suffered or a binary scale of presence or absence of childhood ear infections" []	564542	\N	\N	EFO	2	EFO	information entity	suscepibility to childhood ear infection measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007904	"quantification of an individual's susceptibility to childhood ear infections, generally as a count of number of infections suffered or a binary scale of presence or absence of childhood ear infections" []	1145719	\N	\N	EFO	3	EFO	experimental factor	suscepibility to childhood ear infection measurement
EFO:0007905	\N	\N	"quantification of the severity of joint hypermobility, for example using the Beighton score, a score ranging from 0 to 9 based on 9 different measurements regarding the hypermobility of finger, knee, elbow, thumb and hip hypermobility" []	EFO:0007905	"quantification of the severity of joint hypermobility, for example using the Beighton score, a score ranging from 0 to 9 based on 9 different measurements regarding the hypermobility of finger, knee, elbow, thumb and hip hypermobility" []	69142	\N	\N	EFO	0	EFO	joint hypermobility measurement	joint hypermobility measurement
EFO:0001444	EFO:0007905	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007905	"quantification of the severity of joint hypermobility, for example using the Beighton score, a score ranging from 0 to 9 based on 9 different measurements regarding the hypermobility of finger, knee, elbow, thumb and hip hypermobility" []	211285	\N	\N	EFO	1	EFO	measurement	joint hypermobility measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007905	"quantification of the severity of joint hypermobility, for example using the Beighton score, a score ranging from 0 to 9 based on 9 different measurements regarding the hypermobility of finger, knee, elbow, thumb and hip hypermobility" []	564543	\N	\N	EFO	2	EFO	information entity	joint hypermobility measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007905	"quantification of the severity of joint hypermobility, for example using the Beighton score, a score ranging from 0 to 9 based on 9 different measurements regarding the hypermobility of finger, knee, elbow, thumb and hip hypermobility" []	1145720	\N	\N	EFO	3	EFO	experimental factor	joint hypermobility measurement
EFO:0007906	\N	\N	"quantification of some aspect of unibrows, such as their presence or absence, or their severity" []	EFO:0007906	"quantification of some aspect of unibrows, such as their presence or absence, or their severity" []	69143	\N	\N	EFO	0	EFO	synophrys measurement	synophrys measurement
EFO:0007821	EFO:0007906	\N	"quantification of some aspect of hair morphology such as hair density, colour, thickness or growth pattern" []	EFO:0007906	"quantification of some aspect of unibrows, such as their presence or absence, or their severity" []	211286	\N	\N	EFO	1	EFO	hair morphology measurement	synophrys measurement
EFO:0001444	EFO:0007821	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007906	"quantification of some aspect of unibrows, such as their presence or absence, or their severity" []	564544	\N	\N	EFO	2	EFO	measurement	synophrys measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007906	"quantification of some aspect of unibrows, such as their presence or absence, or their severity" []	1145721	\N	\N	EFO	3	EFO	information entity	synophrys measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007906	"quantification of some aspect of unibrows, such as their presence or absence, or their severity" []	2028181	\N	\N	EFO	4	EFO	experimental factor	synophrys measurement
EFO:0007907	\N	\N	"quantification of some aspect of methadone dosage" []	EFO:0007907	"quantification of some aspect of methadone dosage" []	69144	\N	\N	EFO	0	EFO	methadone dose measurement	methadone dose measurement
EFO:0007010	EFO:0007907	\N	"quantification of some aspect of drug use, such as whether drug use occured, over what period of time it occured and what dosage was used" []	EFO:0007907	"quantification of some aspect of methadone dosage" []	211287	\N	\N	EFO	1	EFO	drug use measurement	methadone dose measurement
EFO:0001444	EFO:0007010	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007907	"quantification of some aspect of methadone dosage" []	564545	\N	\N	EFO	2	EFO	measurement	methadone dose measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007907	"quantification of some aspect of methadone dosage" []	1145722	\N	\N	EFO	3	EFO	information entity	methadone dose measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007907	"quantification of some aspect of methadone dosage" []	2028182	\N	\N	EFO	4	EFO	experimental factor	methadone dose measurement
EFO:0007908	\N	\N	"quantification of some aspect of air pollution through traffic, such as annual average NO2 exposure estimates derived using land use regression modeling" []	EFO:0007908	"quantification of some aspect of air pollution through traffic, such as annual average NO2 exposure estimates derived using land use regression modeling" []	69145	\N	\N	EFO	0	EFO	traffic air pollution measurement	traffic air pollution measurement
EFO:0008360	EFO:0007908	\N	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	EFO:0007908	"quantification of some aspect of air pollution through traffic, such as annual average NO2 exposure estimates derived using land use regression modeling" []	211288	\N	\N	EFO	1	EFO	environmental exposure measurement	traffic air pollution measurement
EFO:0001444	EFO:0008360	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007908	"quantification of some aspect of air pollution through traffic, such as annual average NO2 exposure estimates derived using land use regression modeling" []	564546	\N	\N	EFO	2	EFO	measurement	traffic air pollution measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007908	"quantification of some aspect of air pollution through traffic, such as annual average NO2 exposure estimates derived using land use regression modeling" []	1145723	\N	\N	EFO	3	EFO	information entity	traffic air pollution measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007908	"quantification of some aspect of air pollution through traffic, such as annual average NO2 exposure estimates derived using land use regression modeling" []	2028183	\N	\N	EFO	4	EFO	experimental factor	traffic air pollution measurement
EFO:0007909	\N	\N	"quantification of the amount of chromogranin A cleavage product in a sample" []	EFO:0007909	"quantification of the amount of chromogranin A cleavage product in a sample" []	69146	\N	\N	EFO	0	EFO	CHGA cleavage product measurement	CHGA cleavage product measurement
EFO:0001444	EFO:0007909	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007909	"quantification of the amount of chromogranin A cleavage product in a sample" []	211289	\N	\N	EFO	1	EFO	measurement	CHGA cleavage product measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007909	"quantification of the amount of chromogranin A cleavage product in a sample" []	564547	\N	\N	EFO	2	EFO	information entity	CHGA cleavage product measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007909	"quantification of the amount of chromogranin A cleavage product in a sample" []	1145724	\N	\N	EFO	3	EFO	experimental factor	CHGA cleavage product measurement
EFO:0007910	\N	\N	"quantification of the amount of chromogranin B cleavage product in a sample" []	EFO:0007910	"quantification of the amount of chromogranin B cleavage product in a sample" []	69147	\N	\N	EFO	0	EFO	CHGB cleavage product measurement	CHGB cleavage product measurement
EFO:0001444	EFO:0007910	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007910	"quantification of the amount of chromogranin B cleavage product in a sample" []	211290	\N	\N	EFO	1	EFO	measurement	CHGB cleavage product measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007910	"quantification of the amount of chromogranin B cleavage product in a sample" []	564548	\N	\N	EFO	2	EFO	information entity	CHGB cleavage product measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007910	"quantification of the amount of chromogranin B cleavage product in a sample" []	1145725	\N	\N	EFO	3	EFO	experimental factor	CHGB cleavage product measurement
EFO:0007911	\N	\N	"quantification of some aspect of personality traits, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	EFO:0007911	"quantification of some aspect of personality traits, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	69148	\N	\N	EFO	0	EFO	personality trait measurement	personality trait measurement
EFO:0001444	EFO:0007911	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007911	"quantification of some aspect of personality traits, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	211291	\N	\N	EFO	1	EFO	measurement	personality trait measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007911	"quantification of some aspect of personality traits, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	564549	\N	\N	EFO	2	EFO	information entity	personality trait measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007911	"quantification of some aspect of personality traits, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	1145726	\N	\N	EFO	3	EFO	experimental factor	personality trait measurement
EFO:0007912	\N	\N	"quantification of conscientiousness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	EFO:0007912	"quantification of conscientiousness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	69149	\N	\N	EFO	0	EFO	conscientiousness measurement	conscientiousness measurement
EFO:0007911	EFO:0007912	\N	"quantification of some aspect of personality traits, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	EFO:0007912	"quantification of conscientiousness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	211292	\N	\N	EFO	1	EFO	personality trait measurement	conscientiousness measurement
EFO:0001444	EFO:0007911	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007912	"quantification of conscientiousness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	564550	\N	\N	EFO	2	EFO	measurement	conscientiousness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007912	"quantification of conscientiousness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	1145727	\N	\N	EFO	3	EFO	information entity	conscientiousness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007912	"quantification of conscientiousness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	2028184	\N	\N	EFO	4	EFO	experimental factor	conscientiousness measurement
EFO:0007913	\N	\N	"quantification of extraversion, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	EFO:0007913	"quantification of extraversion, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	69150	\N	\N	EFO	0	EFO	extraversion measurement	extraversion measurement
EFO:0007911	EFO:0007913	\N	"quantification of some aspect of personality traits, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	EFO:0007913	"quantification of extraversion, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	211293	\N	\N	EFO	1	EFO	personality trait measurement	extraversion measurement
EFO:0001444	EFO:0007911	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007913	"quantification of extraversion, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	564551	\N	\N	EFO	2	EFO	measurement	extraversion measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007913	"quantification of extraversion, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	1145728	\N	\N	EFO	3	EFO	information entity	extraversion measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007913	"quantification of extraversion, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	2028185	\N	\N	EFO	4	EFO	experimental factor	extraversion measurement
EFO:0007914	\N	\N	"quantification of openness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	EFO:0007914	"quantification of openness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	69151	\N	\N	EFO	0	EFO	openness measurement	openness measurement
EFO:0007911	EFO:0007914	\N	"quantification of some aspect of personality traits, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	EFO:0007914	"quantification of openness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	211294	\N	\N	EFO	1	EFO	personality trait measurement	openness measurement
EFO:0001444	EFO:0007911	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007914	"quantification of openness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	564552	\N	\N	EFO	2	EFO	measurement	openness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007914	"quantification of openness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	1145729	\N	\N	EFO	3	EFO	information entity	openness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007914	"quantification of openness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	2028186	\N	\N	EFO	4	EFO	experimental factor	openness measurement
EFO:0007915	\N	\N	"quantification of agreeableness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	EFO:0007915	"quantification of agreeableness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	69152	\N	\N	EFO	0	EFO	agreeableness measurement	agreeableness measurement
EFO:0007911	EFO:0007915	\N	"quantification of some aspect of personality traits, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	EFO:0007915	"quantification of agreeableness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	211295	\N	\N	EFO	1	EFO	personality trait measurement	agreeableness measurement
EFO:0001444	EFO:0007911	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007915	"quantification of agreeableness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	564553	\N	\N	EFO	2	EFO	measurement	agreeableness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007915	"quantification of agreeableness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	1145730	\N	\N	EFO	3	EFO	information entity	agreeableness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007915	"quantification of agreeableness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)" []	2028187	\N	\N	EFO	4	EFO	experimental factor	agreeableness measurement
EFO:0007916	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tricyclic antidepressant stimulus" []	EFO:0007916	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tricyclic antidepressant stimulus" []	69153	\N	\N	EFO	0	EFO	response to tricyclic antidepressant	response to tricyclic antidepressant
GO:0036276	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antidepressant stimulus, a mood-stimulating drug." [CHEBI:35469, GOC:hp]	EFO:0007916	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tricyclic antidepressant stimulus" []	194920	\N	gocheck_do_not_manually_annotate	EFO	0	EFO	response to antidepressant	response to tricyclic antidepressant
EFO:0007917	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tetracyclic antidepressant stimulus" []	EFO:0007917	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tetracyclic antidepressant stimulus" []	69154	\N	\N	EFO	0	EFO	response to tetracyclic antidepressant	response to tetracyclic antidepressant
GO:0036276	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antidepressant stimulus, a mood-stimulating drug." [CHEBI:35469, GOC:hp]	EFO:0007917	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tetracyclic antidepressant stimulus" []	194921	\N	gocheck_do_not_manually_annotate	EFO	0	EFO	response to antidepressant	response to tetracyclic antidepressant
EFO:0007918	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anti-tuberculosis drug stimulus" []	EFO:0007918	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anti-tuberculosis drug stimulus" []	69155	\N	\N	EFO	0	EFO	response to anti-tuberculosis drug	response to anti-tuberculosis drug
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007918	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anti-tuberculosis drug stimulus" []	194922	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to anti-tuberculosis drug
EFO:0007919	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a diclofenac stimulus" []	EFO:0007919	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a diclofenac stimulus" []	69156	\N	\N	EFO	0	EFO	response to diclofenac	response to diclofenac
EFO:0005533	EFO:0007919	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a non-steroidal anti-inflammatory." []	EFO:0007919	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a diclofenac stimulus" []	211296	\N	\N	EFO	1	EFO	response to non-steroidal anti-inflammatory	response to diclofenac
EFO:0007920	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fluoroquinolone stimulus. Fluoroquinolones are broad-spectrum antibiotics (effective for both gram-negative and gram-positive bacteria) that play an important role in treatment of serious bacterial infections, especially hospital-acquired infections and others in which resistance to older antibacterial classes is suspected." []	EFO:0007920	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fluoroquinolone stimulus. Fluoroquinolones are broad-spectrum antibiotics (effective for both gram-negative and gram-positive bacteria) that play an important role in treatment of serious bacterial infections, especially hospital-acquired infections and others in which resistance to older antibacterial classes is suspected." []	69157	\N	\N	EFO	0	EFO	response to fluoroquinolones	response to fluoroquinolones
GO:0046677	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms." [GOC:ai, GOC:ef]	EFO:0007920	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fluoroquinolone stimulus. Fluoroquinolones are broad-spectrum antibiotics (effective for both gram-negative and gram-positive bacteria) that play an important role in treatment of serious bacterial infections, especially hospital-acquired infections and others in which resistance to older antibacterial classes is suspected." []	194923	\N	goslim_chembl,gosubset_prok	EFO	0	EFO	response to antibiotic	response to fluoroquinolones
EFO:0007921	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrofurantoin stimulus. Nitrofurantoin is an antibiotic used to treat bladder infections." []	EFO:0007921	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrofurantoin stimulus. Nitrofurantoin is an antibiotic used to treat bladder infections." []	69158	\N	\N	EFO	0	EFO	response to nitrofurantoin	response to nitrofurantoin
GO:0046677	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms." [GOC:ai, GOC:ef]	EFO:0007921	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrofurantoin stimulus. Nitrofurantoin is an antibiotic used to treat bladder infections." []	194924	\N	goslim_chembl,gosubset_prok	EFO	0	EFO	response to antibiotic	response to nitrofurantoin
EFO:0007922	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sulfonyurea stimulus. Sulfonylureas are a class of organic compounds used in medicine and agriculture. They are antidiabetic drugs widely used in the management of diabetes mellitus type." []	EFO:0007922	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sulfonyurea stimulus. Sulfonylureas are a class of organic compounds used in medicine and agriculture. They are antidiabetic drugs widely used in the management of diabetes mellitus type." []	69159	\N	\N	EFO	0	EFO	response to sulfonylurea	response to sulfonylurea
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007922	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sulfonyurea stimulus. Sulfonylureas are a class of organic compounds used in medicine and agriculture. They are antidiabetic drugs widely used in the management of diabetes mellitus type." []	194925	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to sulfonylurea
EFO:0007923	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a terbinafine stimulus. Terbinafine is an antifungal medication used to treat ringworm, pityriasis versicolor, and fungal nail infections." []	EFO:0007923	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a terbinafine stimulus. Terbinafine is an antifungal medication used to treat ringworm, pityriasis versicolor, and fungal nail infections." []	69160	\N	\N	EFO	0	EFO	response to terbinafine	response to terbinafine
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0007923	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a terbinafine stimulus. Terbinafine is an antifungal medication used to treat ringworm, pityriasis versicolor, and fungal nail infections." []	194926	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to terbinafine
EFO:0007924	\N	\N	"Quantification an individual's risk of undergoing tonsillectomy. Some individuals experience recurrent, severe tonsillitis and massive hypertrophy of the tonsils in which case surgical removal of the tonsils may be considered. There are a number of genetic variants that may reduce the risk of tonsillectomy by conferring a protective effect." []	EFO:0007924	"Quantification an individual's risk of undergoing tonsillectomy. Some individuals experience recurrent, severe tonsillitis and massive hypertrophy of the tonsils in which case surgical removal of the tonsils may be considered. There are a number of genetic variants that may reduce the risk of tonsillectomy by conferring a protective effect." []	69161	\N	\N	EFO	0	EFO	tonsillectomy risk measurement	tonsillectomy risk measurement
EFO:0001444	EFO:0007924	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007924	"Quantification an individual's risk of undergoing tonsillectomy. Some individuals experience recurrent, severe tonsillitis and massive hypertrophy of the tonsils in which case surgical removal of the tonsils may be considered. There are a number of genetic variants that may reduce the risk of tonsillectomy by conferring a protective effect." []	211297	\N	\N	EFO	1	EFO	measurement	tonsillectomy risk measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007924	"Quantification an individual's risk of undergoing tonsillectomy. Some individuals experience recurrent, severe tonsillitis and massive hypertrophy of the tonsils in which case surgical removal of the tonsils may be considered. There are a number of genetic variants that may reduce the risk of tonsillectomy by conferring a protective effect." []	564554	\N	\N	EFO	2	EFO	information entity	tonsillectomy risk measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007924	"Quantification an individual's risk of undergoing tonsillectomy. Some individuals experience recurrent, severe tonsillitis and massive hypertrophy of the tonsils in which case surgical removal of the tonsils may be considered. There are a number of genetic variants that may reduce the risk of tonsillectomy by conferring a protective effect." []	1145731	\N	\N	EFO	3	EFO	experimental factor	tonsillectomy risk measurement
EFO:0007925	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a paliperidone stimulus. Paliperidone, also known as 9-hydroxyrisperidone, is a dopamine antagonist and 5-HT2A antagonist of the atypical antipsychotic class of medications." []	EFO:0007925	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a paliperidone stimulus. Paliperidone, also known as 9-hydroxyrisperidone, is a dopamine antagonist and 5-HT2A antagonist of the atypical antipsychotic class of medications." []	69162	\N	\N	EFO	0	EFO	response to paliperidone	response to paliperidone
GO:0097332	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antipsychotic drug stimulus. Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect." [CHEBI:35476, GOC:pr]	EFO:0007925	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a paliperidone stimulus. Paliperidone, also known as 9-hydroxyrisperidone, is a dopamine antagonist and 5-HT2A antagonist of the atypical antipsychotic class of medications." []	194927	\N	\N	EFO	0	EFO	response to antipsychotic drug	response to paliperidone
EFO:0007926	\N	\N	"extreme pathological inflammatory response of an organism to an infection, for example seen in certain types of leprosy" []	EFO:0007926	"extreme pathological inflammatory response of an organism to an infection, for example seen in certain types of leprosy" []	69163	\N	\N	EFO	0	EFO	hyper-inflammatory immune response	hyper-inflammatory immune response
GO:0006954	\N	\N	"The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages." [GO_REF:0000022, GOC:mtg_15nov05, ISBN:0198506732]	EFO:0007926	"extreme pathological inflammatory response of an organism to an infection, for example seen in certain types of leprosy" []	194928	\N	\N	EFO	0	EFO	inflammatory response	hyper-inflammatory immune response
EFO:0007927	\N	\N	"quantification of the severity of schizophrenia symptoms, for example as a result of treatment. Schizophrenia symptom severity can be evaluated via a range of measures, including the the Positive and Negative Syndrome Scale (PANSS), a medical scale used for measuring symptom severity of patients with schizophrenia, the PANSS sub-component PANSS positive Marder factor score and PANSS negative Marder factor score and the Clinical Global Impression  Severity scale (CGI-S), a 7-point scale that requires the clinician to rate the severity of the patient's illness at the time of assessment, relative to the clinician's past experience with patients who have the same diagnosis." []	EFO:0007927	"quantification of the severity of schizophrenia symptoms, for example as a result of treatment. Schizophrenia symptom severity can be evaluated via a range of measures, including the the Positive and Negative Syndrome Scale (PANSS), a medical scale used for measuring symptom severity of patients with schizophrenia, the PANSS sub-component PANSS positive Marder factor score and PANSS negative Marder factor score and the Clinical Global Impression  Severity scale (CGI-S), a 7-point scale that requires the clinician to rate the severity of the patient's illness at the time of assessment, relative to the clinician's past experience with patients who have the same diagnosis." []	69164	\N	\N	EFO	0	EFO	schizophrenia symptom severity measurement	schizophrenia symptom severity measurement
EFO:0006848	EFO:0007927	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007927	"quantification of the severity of schizophrenia symptoms, for example as a result of treatment. Schizophrenia symptom severity can be evaluated via a range of measures, including the the Positive and Negative Syndrome Scale (PANSS), a medical scale used for measuring symptom severity of patients with schizophrenia, the PANSS sub-component PANSS positive Marder factor score and PANSS negative Marder factor score and the Clinical Global Impression  Severity scale (CGI-S), a 7-point scale that requires the clinician to rate the severity of the patient's illness at the time of assessment, relative to the clinician's past experience with patients who have the same diagnosis." []	211298	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	schizophrenia symptom severity measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007927	"quantification of the severity of schizophrenia symptoms, for example as a result of treatment. Schizophrenia symptom severity can be evaluated via a range of measures, including the the Positive and Negative Syndrome Scale (PANSS), a medical scale used for measuring symptom severity of patients with schizophrenia, the PANSS sub-component PANSS positive Marder factor score and PANSS negative Marder factor score and the Clinical Global Impression  Severity scale (CGI-S), a 7-point scale that requires the clinician to rate the severity of the patient's illness at the time of assessment, relative to the clinician's past experience with patients who have the same diagnosis." []	564555	\N	\N	EFO	2	EFO	measurement	schizophrenia symptom severity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007927	"quantification of the severity of schizophrenia symptoms, for example as a result of treatment. Schizophrenia symptom severity can be evaluated via a range of measures, including the the Positive and Negative Syndrome Scale (PANSS), a medical scale used for measuring symptom severity of patients with schizophrenia, the PANSS sub-component PANSS positive Marder factor score and PANSS negative Marder factor score and the Clinical Global Impression  Severity scale (CGI-S), a 7-point scale that requires the clinician to rate the severity of the patient's illness at the time of assessment, relative to the clinician's past experience with patients who have the same diagnosis." []	1145732	\N	\N	EFO	3	EFO	information entity	schizophrenia symptom severity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007927	"quantification of the severity of schizophrenia symptoms, for example as a result of treatment. Schizophrenia symptom severity can be evaluated via a range of measures, including the the Positive and Negative Syndrome Scale (PANSS), a medical scale used for measuring symptom severity of patients with schizophrenia, the PANSS sub-component PANSS positive Marder factor score and PANSS negative Marder factor score and the Clinical Global Impression  Severity scale (CGI-S), a 7-point scale that requires the clinician to rate the severity of the patient's illness at the time of assessment, relative to the clinician's past experience with patients who have the same diagnosis." []	2028188	\N	\N	EFO	4	EFO	experimental factor	schizophrenia symptom severity measurement
EFO:0007928	\N	\N	"quantification in an electrocardiogram of the number of QRS complexes per minute" []	EFO:0007928	"quantification in an electrocardiogram of the number of QRS complexes per minute" []	69165	\N	\N	EFO	0	EFO	ventricular rate measurement	ventricular rate measurement
EFO:0004326	EFO:0007928	\N	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	EFO:0007928	"quantification in an electrocardiogram of the number of QRS complexes per minute" []	211299	\N	\N	EFO	1	EFO	heart rate	ventricular rate measurement
EFO:0004303	EFO:0004326	\N	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	EFO:0007928	"quantification in an electrocardiogram of the number of QRS complexes per minute" []	564556	\N	\N	EFO	2	EFO	vital signs	ventricular rate measurement
EFO:0004311	EFO:0004326	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0007928	"quantification in an electrocardiogram of the number of QRS complexes per minute" []	564557	\N	\N	EFO	2	EFO	heart function measurement	ventricular rate measurement
EFO:0001444	EFO:0004303	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007928	"quantification in an electrocardiogram of the number of QRS complexes per minute" []	1145733	\N	\N	EFO	3	EFO	measurement	ventricular rate measurement
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0007928	"quantification in an electrocardiogram of the number of QRS complexes per minute" []	1145734	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	ventricular rate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007928	"quantification in an electrocardiogram of the number of QRS complexes per minute" []	4388761	\N	\N	EFO	6	EFO	information entity	ventricular rate measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0007928	"quantification in an electrocardiogram of the number of QRS complexes per minute" []	2028190	\N	\N	EFO	4	EFO	cardiovascular measurement	ventricular rate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007928	"quantification in an electrocardiogram of the number of QRS complexes per minute" []	5059380	\N	\N	EFO	7	EFO	experimental factor	ventricular rate measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007928	"quantification in an electrocardiogram of the number of QRS complexes per minute" []	3179410	\N	\N	EFO	5	EFO	measurement	ventricular rate measurement
EFO:0007929	\N	\N	"quantification of the ratio of  triglyceride to HDL cholesterol in a sample" []	EFO:0007929	"quantification of the ratio of  triglyceride to HDL cholesterol in a sample" []	69166	\N	\N	EFO	0	EFO	triglyceride:HDL cholesterol ratio	triglyceride:HDL cholesterol ratio
EFO:0004529	EFO:0007929	\N	"A measure of circulating lipid" []	EFO:0007929	"quantification of the ratio of  triglyceride to HDL cholesterol in a sample" []	211300	\N	\N	EFO	1	EFO	lipid measurement	triglyceride:HDL cholesterol ratio
EFO:0004732	EFO:0007929	\N	"Is the quantification of some lipoprotein" []	EFO:0007929	"quantification of the ratio of  triglyceride to HDL cholesterol in a sample" []	211301	\N	\N	EFO	1	EFO	lipoprotein measurement	triglyceride:HDL cholesterol ratio
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007929	"quantification of the ratio of  triglyceride to HDL cholesterol in a sample" []	564558	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	triglyceride:HDL cholesterol ratio
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007929	"quantification of the ratio of  triglyceride to HDL cholesterol in a sample" []	564559	\N	\N	EFO	2	EFO	protein measurement	triglyceride:HDL cholesterol ratio
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0007929	"quantification of the ratio of  triglyceride to HDL cholesterol in a sample" []	564560	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	triglyceride:HDL cholesterol ratio
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007929	"quantification of the ratio of  triglyceride to HDL cholesterol in a sample" []	1145735	\N	\N	EFO	3	EFO	measurement	triglyceride:HDL cholesterol ratio
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007929	"quantification of the ratio of  triglyceride to HDL cholesterol in a sample" []	1145736	\N	\N	EFO	3	EFO	measurement	triglyceride:HDL cholesterol ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007929	"quantification of the ratio of  triglyceride to HDL cholesterol in a sample" []	2028191	\N	\N	EFO	4	EFO	information entity	triglyceride:HDL cholesterol ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007929	"quantification of the ratio of  triglyceride to HDL cholesterol in a sample" []	3179411	\N	\N	EFO	5	EFO	experimental factor	triglyceride:HDL cholesterol ratio
EFO:0007930	\N	\N	"quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample" []	EFO:0007930	"quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample" []	69167	\N	\N	EFO	0	EFO	LDL cholesteriol:HDL cholesterol ratio	LDL cholesteriol:HDL cholesterol ratio
EFO:0004529	EFO:0007930	\N	"A measure of circulating lipid" []	EFO:0007930	"quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample" []	211302	\N	\N	EFO	1	EFO	lipid measurement	LDL cholesteriol:HDL cholesterol ratio
EFO:0004732	EFO:0007930	\N	"Is the quantification of some lipoprotein" []	EFO:0007930	"quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample" []	211303	\N	\N	EFO	1	EFO	lipoprotein measurement	LDL cholesteriol:HDL cholesterol ratio
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007930	"quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample" []	564561	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	LDL cholesteriol:HDL cholesterol ratio
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007930	"quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample" []	564562	\N	\N	EFO	2	EFO	protein measurement	LDL cholesteriol:HDL cholesterol ratio
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0007930	"quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample" []	564563	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	LDL cholesteriol:HDL cholesterol ratio
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007930	"quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample" []	1145737	\N	\N	EFO	3	EFO	measurement	LDL cholesteriol:HDL cholesterol ratio
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007930	"quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample" []	1145738	\N	\N	EFO	3	EFO	measurement	LDL cholesteriol:HDL cholesterol ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007930	"quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample" []	2028192	\N	\N	EFO	4	EFO	information entity	LDL cholesteriol:HDL cholesterol ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007930	"quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample" []	3179412	\N	\N	EFO	5	EFO	experimental factor	LDL cholesteriol:HDL cholesterol ratio
EFO:0007931	\N	\N	"quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample" []	EFO:0007931	"quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample" []	69168	\N	\N	EFO	0	EFO	non-HDL cholesterol:HDL cholesterol ratio	non-HDL cholesterol:HDL cholesterol ratio
EFO:0004529	EFO:0007931	\N	"A measure of circulating lipid" []	EFO:0007931	"quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample" []	211304	\N	\N	EFO	1	EFO	lipid measurement	non-HDL cholesterol:HDL cholesterol ratio
EFO:0004732	EFO:0007931	\N	"Is the quantification of some lipoprotein" []	EFO:0007931	"quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample" []	211305	\N	\N	EFO	1	EFO	lipoprotein measurement	non-HDL cholesterol:HDL cholesterol ratio
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007931	"quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample" []	564564	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	non-HDL cholesterol:HDL cholesterol ratio
EFO:0004747	EFO:0004732	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007931	"quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample" []	564565	\N	\N	EFO	2	EFO	protein measurement	non-HDL cholesterol:HDL cholesterol ratio
EFO:0005105	EFO:0004732	\N	"quantification of some lipid or lipoprotein" []	EFO:0007931	"quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample" []	564566	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	non-HDL cholesterol:HDL cholesterol ratio
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007931	"quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample" []	1145739	\N	\N	EFO	3	EFO	measurement	non-HDL cholesterol:HDL cholesterol ratio
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007931	"quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample" []	1145740	\N	\N	EFO	3	EFO	measurement	non-HDL cholesterol:HDL cholesterol ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007931	"quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample" []	2028193	\N	\N	EFO	4	EFO	information entity	non-HDL cholesterol:HDL cholesterol ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007931	"quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample" []	3179413	\N	\N	EFO	5	EFO	experimental factor	non-HDL cholesterol:HDL cholesterol ratio
EFO:0007932	\N	\N	"quantification of the susceptibility of developing multiple keratinocyte carcinoma (mKC), which is defined as the presence of more than one basal cell carcinoma (BCC) or squamous cell carcinoma (SCC)" []	EFO:0007932	"quantification of the susceptibility of developing multiple keratinocyte carcinoma (mKC), which is defined as the presence of more than one basal cell carcinoma (BCC) or squamous cell carcinoma (SCC)" []	69169	\N	\N	EFO	0	EFO	mulitple keratinocyte carcinoma susceptibility measurement	mulitple keratinocyte carcinoma susceptibility measurement
EFO:0001444	EFO:0007932	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007932	"quantification of the susceptibility of developing multiple keratinocyte carcinoma (mKC), which is defined as the presence of more than one basal cell carcinoma (BCC) or squamous cell carcinoma (SCC)" []	211306	\N	\N	EFO	1	EFO	measurement	mulitple keratinocyte carcinoma susceptibility measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007932	"quantification of the susceptibility of developing multiple keratinocyte carcinoma (mKC), which is defined as the presence of more than one basal cell carcinoma (BCC) or squamous cell carcinoma (SCC)" []	564567	\N	\N	EFO	2	EFO	information entity	mulitple keratinocyte carcinoma susceptibility measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007932	"quantification of the susceptibility of developing multiple keratinocyte carcinoma (mKC), which is defined as the presence of more than one basal cell carcinoma (BCC) or squamous cell carcinoma (SCC)" []	1145741	\N	\N	EFO	3	EFO	experimental factor	mulitple keratinocyte carcinoma susceptibility measurement
EFO:0007933	\N	\N	"mineral density of the radial bone" []	EFO:0007933	"mineral density of the radial bone" []	69170	\N	\N	EFO	0	EFO	radius bone mineral density	radius bone mineral density
EFO:0003923	EFO:0007933	\N	"The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS." []	EFO:0007933	"mineral density of the radial bone" []	211307	\N	\N	EFO	1	EFO	bone density	radius bone mineral density
EFO:0004516	EFO:0003923	\N	"A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc." []	EFO:0007933	"mineral density of the radial bone" []	564568	\N	\N	EFO	2	EFO	bone fracture related measurement	radius bone mineral density
EFO:0004512	EFO:0004516	\N	"" []	EFO:0007933	"mineral density of the radial bone" []	1145742	\N	\N	EFO	3	EFO	bone measurement	radius bone mineral density
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007933	"mineral density of the radial bone" []	2028194	\N	\N	EFO	4	EFO	measurement	radius bone mineral density
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007933	"mineral density of the radial bone" []	3179414	\N	\N	EFO	5	EFO	information entity	radius bone mineral density
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007933	"mineral density of the radial bone" []	4388762	\N	\N	EFO	6	EFO	experimental factor	radius bone mineral density
EFO:0007934	\N	\N	"The clearance rate of creatinine, that is, the volume of plasma that is cleared of creatinine by the kidneys per unit time. Creatinine clearance is calculated using the level of creatinine in a sample of urine, usually one collected over a period of 24 hours, the corresponding plasma creatinine level, and the volume of urine excreted. It is used as an approximation of the glomerular filtration rate (GFR)." []	EFO:0007934	"The clearance rate of creatinine, that is, the volume of plasma that is cleared of creatinine by the kidneys per unit time. Creatinine clearance is calculated using the level of creatinine in a sample of urine, usually one collected over a period of 24 hours, the corresponding plasma creatinine level, and the volume of urine excreted. It is used as an approximation of the glomerular filtration rate (GFR)." []	69171	\N	\N	EFO	0	EFO	creatinine clearance measurement	creatinine clearance measurement
EFO:0004742	EFO:0007934	\N	"Is a quantification of some renal system biomarker" []	EFO:0007934	"The clearance rate of creatinine, that is, the volume of plasma that is cleared of creatinine by the kidneys per unit time. Creatinine clearance is calculated using the level of creatinine in a sample of urine, usually one collected over a period of 24 hours, the corresponding plasma creatinine level, and the volume of urine excreted. It is used as an approximation of the glomerular filtration rate (GFR)." []	211308	\N	\N	EFO	1	EFO	renal system measurement	creatinine clearance measurement
EFO:0001444	EFO:0004742	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007934	"The clearance rate of creatinine, that is, the volume of plasma that is cleared of creatinine by the kidneys per unit time. Creatinine clearance is calculated using the level of creatinine in a sample of urine, usually one collected over a period of 24 hours, the corresponding plasma creatinine level, and the volume of urine excreted. It is used as an approximation of the glomerular filtration rate (GFR)." []	564569	\N	\N	EFO	2	EFO	measurement	creatinine clearance measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007934	"The clearance rate of creatinine, that is, the volume of plasma that is cleared of creatinine by the kidneys per unit time. Creatinine clearance is calculated using the level of creatinine in a sample of urine, usually one collected over a period of 24 hours, the corresponding plasma creatinine level, and the volume of urine excreted. It is used as an approximation of the glomerular filtration rate (GFR)." []	1145743	\N	\N	EFO	3	EFO	information entity	creatinine clearance measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007934	"The clearance rate of creatinine, that is, the volume of plasma that is cleared of creatinine by the kidneys per unit time. Creatinine clearance is calculated using the level of creatinine in a sample of urine, usually one collected over a period of 24 hours, the corresponding plasma creatinine level, and the volume of urine excreted. It is used as an approximation of the glomerular filtration rate (GFR)." []	2028195	\N	\N	EFO	4	EFO	experimental factor	creatinine clearance measurement
EFO:0007935	\N	\N	"quantification of the ratio of uric acid to creatinine in a urine sample" []	EFO:0007935	"quantification of the ratio of uric acid to creatinine in a urine sample" []	69172	\N	\N	EFO	0	EFO	urinary uric acid to creatinine ratio	urinary uric acid to creatinine ratio
EFO:0005116	EFO:0007935	\N	"quantification of some metabolite in urine" []	EFO:0007935	"quantification of the ratio of uric acid to creatinine in a urine sample" []	211309	\N	\N	EFO	1	EFO	urinary metabolite measurement	urinary uric acid to creatinine ratio
EFO:0004725	EFO:0005116	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0007935	"quantification of the ratio of uric acid to creatinine in a urine sample" []	564570	\N	\N	EFO	2	EFO	metabolite measurement	urinary uric acid to creatinine ratio
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007935	"quantification of the ratio of uric acid to creatinine in a urine sample" []	1145744	\N	\N	EFO	3	EFO	measurement	urinary uric acid to creatinine ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007935	"quantification of the ratio of uric acid to creatinine in a urine sample" []	2028196	\N	\N	EFO	4	EFO	information entity	urinary uric acid to creatinine ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007935	"quantification of the ratio of uric acid to creatinine in a urine sample" []	3179415	\N	\N	EFO	5	EFO	experimental factor	urinary uric acid to creatinine ratio
EFO:0007936	\N	\N	"quantification of some aspect of disease prognosis" []	EFO:0007936	"quantification of some aspect of disease prognosis" []	69173	\N	\N	EFO	0	EFO	disease prognosis measurement	disease prognosis measurement
EFO:0001444	EFO:0007936	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007936	"quantification of some aspect of disease prognosis" []	211310	\N	\N	EFO	1	EFO	measurement	disease prognosis measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007936	"quantification of some aspect of disease prognosis" []	564571	\N	\N	EFO	2	EFO	information entity	disease prognosis measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007936	"quantification of some aspect of disease prognosis" []	1145745	\N	\N	EFO	3	EFO	experimental factor	disease prognosis measurement
EFO:0007937	\N	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0007937	"quantification of the levels of some protein in a blood sample" []	69174	\N	\N	EFO	0	EFO	blood protein measurement	blood protein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0007937	"quantification of the levels of some protein in a blood sample" []	211311	\N	\N	EFO	1	EFO	protein measurement	blood protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007937	"quantification of the levels of some protein in a blood sample" []	564572	\N	\N	EFO	2	EFO	measurement	blood protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007937	"quantification of the levels of some protein in a blood sample" []	1145746	\N	\N	EFO	3	EFO	information entity	blood protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007937	"quantification of the levels of some protein in a blood sample" []	2028197	\N	\N	EFO	4	EFO	experimental factor	blood protein measurement
EFO:0007938	\N	\N	"quantification of coronary atheroscleroris as the number\\nof diseased coronary vessels at the time of a catheterization procedure. The variable describes the number (03) of vessels with significant (> 75%) blockage while taking into account the location of the vessels as well as the left or right dominance of the patient" []	EFO:0007938	"quantification of coronary atheroscleroris as the number\\nof diseased coronary vessels at the time of a catheterization procedure. The variable describes the number (03) of vessels with significant (> 75%) blockage while taking into account the location of the vessels as well as the left or right dominance of the patient" []	69175	\N	\N	EFO	0	EFO	coronary atheroscleroris measurement	coronary atheroscleroris measurement
EFO:0001444	EFO:0007938	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007938	"quantification of coronary atheroscleroris as the number\\nof diseased coronary vessels at the time of a catheterization procedure. The variable describes the number (03) of vessels with significant (> 75%) blockage while taking into account the location of the vessels as well as the left or right dominance of the patient" []	211312	\N	\N	EFO	1	EFO	measurement	coronary atheroscleroris measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007938	"quantification of coronary atheroscleroris as the number\\nof diseased coronary vessels at the time of a catheterization procedure. The variable describes the number (03) of vessels with significant (> 75%) blockage while taking into account the location of the vessels as well as the left or right dominance of the patient" []	564573	\N	\N	EFO	2	EFO	information entity	coronary atheroscleroris measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007938	"quantification of coronary atheroscleroris as the number\\nof diseased coronary vessels at the time of a catheterization procedure. The variable describes the number (03) of vessels with significant (> 75%) blockage while taking into account the location of the vessels as well as the left or right dominance of the patient" []	1145747	\N	\N	EFO	3	EFO	experimental factor	coronary atheroscleroris measurement
EFO:0007939	\N	\N	"quantification of the range and severity of respiratory symptoms, either through clinical examination or through a standardised questionnaire assessing variables such as presence and severity of cough, pleghm and dyspnea" []	EFO:0007939	"quantification of the range and severity of respiratory symptoms, either through clinical examination or through a standardised questionnaire assessing variables such as presence and severity of cough, pleghm and dyspnea" []	69176	\N	\N	EFO	0	EFO	respiratory symptom measurement	respiratory symptom measurement
EFO:0001444	EFO:0007939	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007939	"quantification of the range and severity of respiratory symptoms, either through clinical examination or through a standardised questionnaire assessing variables such as presence and severity of cough, pleghm and dyspnea" []	211313	\N	\N	EFO	1	EFO	measurement	respiratory symptom measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007939	"quantification of the range and severity of respiratory symptoms, either through clinical examination or through a standardised questionnaire assessing variables such as presence and severity of cough, pleghm and dyspnea" []	564574	\N	\N	EFO	2	EFO	information entity	respiratory symptom measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007939	"quantification of the range and severity of respiratory symptoms, either through clinical examination or through a standardised questionnaire assessing variables such as presence and severity of cough, pleghm and dyspnea" []	1145748	\N	\N	EFO	3	EFO	experimental factor	respiratory symptom measurement
EFO:0007940	\N	\N	"morphological and functional abnormalities of the venous system of long duration manifested either by symptoms and/or signs indicating the need for investigation and/or care" []	EFO:0007940	"morphological and functional abnormalities of the venous system of long duration manifested either by symptoms and/or signs indicating the need for investigation and/or care" []	69177	\N	\N	EFO	0	EFO	chronic venous insufficiency	chronic venous insufficiency
HP:0002624	\N	\N	"An anomaly of vein." [HPO:probinson]	EFO:0007940	"morphological and functional abnormalities of the venous system of long duration manifested either by symptoms and/or signs indicating the need for investigation and/or care" []	194929	\N	\N	EFO	0	EFO	Abnormal venous morphology	chronic venous insufficiency
EFO:0007941	\N	\N	"Quantification of the severity of sciatica symptoms in patients with lumbar disc herniation. In the case of persistent progressive severe sciatica symptoms, patients may require surgical intervention via microdiscectomy, a minimally invasive spinal surgery for removal of herniated lumbar disc tissue." []	EFO:0007941	"Quantification of the severity of sciatica symptoms in patients with lumbar disc herniation. In the case of persistent progressive severe sciatica symptoms, patients may require surgical intervention via microdiscectomy, a minimally invasive spinal surgery for removal of herniated lumbar disc tissue." []	69178	\N	\N	EFO	0	EFO	LDH-related sciatica symptom severity measurement	LDH-related sciatica symptom severity measurement
EFO:0001444	EFO:0007941	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007941	"Quantification of the severity of sciatica symptoms in patients with lumbar disc herniation. In the case of persistent progressive severe sciatica symptoms, patients may require surgical intervention via microdiscectomy, a minimally invasive spinal surgery for removal of herniated lumbar disc tissue." []	211314	\N	\N	EFO	1	EFO	measurement	LDH-related sciatica symptom severity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007941	"Quantification of the severity of sciatica symptoms in patients with lumbar disc herniation. In the case of persistent progressive severe sciatica symptoms, patients may require surgical intervention via microdiscectomy, a minimally invasive spinal surgery for removal of herniated lumbar disc tissue." []	564575	\N	\N	EFO	2	EFO	information entity	LDH-related sciatica symptom severity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007941	"Quantification of the severity of sciatica symptoms in patients with lumbar disc herniation. In the case of persistent progressive severe sciatica symptoms, patients may require surgical intervention via microdiscectomy, a minimally invasive spinal surgery for removal of herniated lumbar disc tissue." []	1145749	\N	\N	EFO	3	EFO	experimental factor	LDH-related sciatica symptom severity measurement
EFO:0007942	\N	\N	"Quantification of the hip osteoarthritis symptoms. In the case severe hip osteoarthritis, patients may require surgical intervention via a total hip replacement." []	EFO:0007942	"Quantification of the hip osteoarthritis symptoms. In the case severe hip osteoarthritis, patients may require surgical intervention via a total hip replacement." []	69179	\N	\N	EFO	0	EFO	hip osteoarthritis symptom severity measurement	hip osteoarthritis symptom severity measurement
EFO:0001444	EFO:0007942	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007942	"Quantification of the hip osteoarthritis symptoms. In the case severe hip osteoarthritis, patients may require surgical intervention via a total hip replacement." []	211315	\N	\N	EFO	1	EFO	measurement	hip osteoarthritis symptom severity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007942	"Quantification of the hip osteoarthritis symptoms. In the case severe hip osteoarthritis, patients may require surgical intervention via a total hip replacement." []	564576	\N	\N	EFO	2	EFO	information entity	hip osteoarthritis symptom severity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007942	"Quantification of the hip osteoarthritis symptoms. In the case severe hip osteoarthritis, patients may require surgical intervention via a total hip replacement." []	1145750	\N	\N	EFO	3	EFO	experimental factor	hip osteoarthritis symptom severity measurement
EFO:0007943	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platinum based neoadjuvant chemotherapy stimulus. Neoadjuvant chemotherapy is given as a first step to shrink a tumor before the main treatment, which is usually surgery, is given." []	EFO:0007943	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platinum based neoadjuvant chemotherapy stimulus. Neoadjuvant chemotherapy is given as a first step to shrink a tumor before the main treatment, which is usually surgery, is given." []	69180	\N	\N	EFO	0	EFO	response to platinum-based neoadjuvant chemotherapy	response to platinum-based neoadjuvant chemotherapy
EFO:0004647	EFO:0007943	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platinum based chemotherapy stimulus." []	EFO:0007943	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platinum based neoadjuvant chemotherapy stimulus. Neoadjuvant chemotherapy is given as a first step to shrink a tumor before the main treatment, which is usually surgery, is given." []	211316	\N	\N	EFO	1	EFO	response to platinum based chemotherapy	response to platinum-based neoadjuvant chemotherapy
EFO:0007944	\N	\N	"Quantification of an individual's level of exposure to an allergen such as a food allergen or dust mites. The level of exposure is defined as units of allergen in a sample, eg microgram of dust mites in a gram of dust." []	EFO:0007944	"Quantification of an individual's level of exposure to an allergen such as a food allergen or dust mites. The level of exposure is defined as units of allergen in a sample, eg microgram of dust mites in a gram of dust." []	69181	\N	\N	EFO	0	EFO	allergen exposure measurement	allergen exposure measurement
EFO:0008360	EFO:0007944	\N	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	EFO:0007944	"Quantification of an individual's level of exposure to an allergen such as a food allergen or dust mites. The level of exposure is defined as units of allergen in a sample, eg microgram of dust mites in a gram of dust." []	211317	\N	\N	EFO	1	EFO	environmental exposure measurement	allergen exposure measurement
EFO:0001444	EFO:0008360	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007944	"Quantification of an individual's level of exposure to an allergen such as a food allergen or dust mites. The level of exposure is defined as units of allergen in a sample, eg microgram of dust mites in a gram of dust." []	564577	\N	\N	EFO	2	EFO	measurement	allergen exposure measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007944	"Quantification of an individual's level of exposure to an allergen such as a food allergen or dust mites. The level of exposure is defined as units of allergen in a sample, eg microgram of dust mites in a gram of dust." []	1145751	\N	\N	EFO	3	EFO	information entity	allergen exposure measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007944	"Quantification of an individual's level of exposure to an allergen such as a food allergen or dust mites. The level of exposure is defined as units of allergen in a sample, eg microgram of dust mites in a gram of dust." []	2028198	\N	\N	EFO	4	EFO	experimental factor	allergen exposure measurement
EFO:0007945	\N	\N	"quantification of some aspect of agoraphobia symptoms such as their frequency or severity, usually via a structured questionnaire such as the Agoraphobia Cognition Questionnaire (ACQ)" []	EFO:0007945	"quantification of some aspect of agoraphobia symptoms such as their frequency or severity, usually via a structured questionnaire such as the Agoraphobia Cognition Questionnaire (ACQ)" []	69182	\N	\N	EFO	0	EFO	agoraphobia symptom measurement	agoraphobia symptom measurement
EFO:0007795	EFO:0007945	\N	"quantification of some aspect of anxiety disorder such as its presence or absence in an individual or its severity" []	EFO:0007945	"quantification of some aspect of agoraphobia symptoms such as their frequency or severity, usually via a structured questionnaire such as the Agoraphobia Cognition Questionnaire (ACQ)" []	211318	\N	\N	EFO	1	EFO	anxiety disorder measurement	agoraphobia symptom measurement
EFO:0006848	EFO:0007795	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007945	"quantification of some aspect of agoraphobia symptoms such as their frequency or severity, usually via a structured questionnaire such as the Agoraphobia Cognition Questionnaire (ACQ)" []	564578	\N	\N	EFO	2	EFO	mental or behavioural disorder biomarker	agoraphobia symptom measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007945	"quantification of some aspect of agoraphobia symptoms such as their frequency or severity, usually via a structured questionnaire such as the Agoraphobia Cognition Questionnaire (ACQ)" []	1145752	\N	\N	EFO	3	EFO	measurement	agoraphobia symptom measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007945	"quantification of some aspect of agoraphobia symptoms such as their frequency or severity, usually via a structured questionnaire such as the Agoraphobia Cognition Questionnaire (ACQ)" []	2028199	\N	\N	EFO	4	EFO	information entity	agoraphobia symptom measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007945	"quantification of some aspect of agoraphobia symptoms such as their frequency or severity, usually via a structured questionnaire such as the Agoraphobia Cognition Questionnaire (ACQ)" []	3179416	\N	\N	EFO	5	EFO	experimental factor	agoraphobia symptom measurement
EFO:0007946	\N	\N	"Quantification an individual's level of tiredness, generally via a standardised questionnaire or structured interview." []	EFO:0007946	"Quantification an individual's level of tiredness, generally via a standardised questionnaire or structured interview." []	69183	\N	\N	EFO	0	EFO	tiredness measurement	tiredness measurement
EFO:0001444	EFO:0007946	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007946	"Quantification an individual's level of tiredness, generally via a standardised questionnaire or structured interview." []	211319	\N	\N	EFO	1	EFO	measurement	tiredness measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007946	"Quantification an individual's level of tiredness, generally via a standardised questionnaire or structured interview." []	564579	\N	\N	EFO	2	EFO	information entity	tiredness measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007946	"Quantification an individual's level of tiredness, generally via a standardised questionnaire or structured interview." []	1145753	\N	\N	EFO	3	EFO	experimental factor	tiredness measurement
EFO:0007947	\N	\N	"Quantification of the galactose-deficient immunoglobulin A1, a form of immunoglobulin A1 deficient in the 3-6 O-glycans usually present in the hinge-region segments of the heavy chains of immunoglobulin A1. Galactose-deficient IgA1 (Gd-IgA1) glycoforms are significantly more abundant in individuals with IgA nephropathy than in healthy individuals." []	EFO:0007947	"Quantification of the galactose-deficient immunoglobulin A1, a form of immunoglobulin A1 deficient in the 3-6 O-glycans usually present in the hinge-region segments of the heavy chains of immunoglobulin A1. Galactose-deficient IgA1 (Gd-IgA1) glycoforms are significantly more abundant in individuals with IgA nephropathy than in healthy individuals." []	69184	\N	\N	EFO	0	EFO	serum galactose-deficient IgA1 measurement	serum galactose-deficient IgA1 measurement
EFO:0004742	EFO:0007947	\N	"Is a quantification of some renal system biomarker" []	EFO:0007947	"Quantification of the galactose-deficient immunoglobulin A1, a form of immunoglobulin A1 deficient in the 3-6 O-glycans usually present in the hinge-region segments of the heavy chains of immunoglobulin A1. Galactose-deficient IgA1 (Gd-IgA1) glycoforms are significantly more abundant in individuals with IgA nephropathy than in healthy individuals." []	211320	\N	\N	EFO	1	EFO	renal system measurement	serum galactose-deficient IgA1 measurement
EFO:0004912	EFO:0007947	\N	"Is a quantification of immunoglobulin A, an antibody with a role in mucosal immunity. Reduced levels of IgA may indicate a congenital deficiency and increased levels may indicate multiple myeloma." []	EFO:0007947	"Quantification of the galactose-deficient immunoglobulin A1, a form of immunoglobulin A1 deficient in the 3-6 O-glycans usually present in the hinge-region segments of the heavy chains of immunoglobulin A1. Galactose-deficient IgA1 (Gd-IgA1) glycoforms are significantly more abundant in individuals with IgA nephropathy than in healthy individuals." []	211321	\N	\N	EFO	1	EFO	serum IgA measurement	serum galactose-deficient IgA1 measurement
EFO:0001444	EFO:0004742	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007947	"Quantification of the galactose-deficient immunoglobulin A1, a form of immunoglobulin A1 deficient in the 3-6 O-glycans usually present in the hinge-region segments of the heavy chains of immunoglobulin A1. Galactose-deficient IgA1 (Gd-IgA1) glycoforms are significantly more abundant in individuals with IgA nephropathy than in healthy individuals." []	564580	\N	\N	EFO	2	EFO	measurement	serum galactose-deficient IgA1 measurement
EFO:0004556	EFO:0004912	\N	"Is the quantification of some antibody" []	EFO:0007947	"Quantification of the galactose-deficient immunoglobulin A1, a form of immunoglobulin A1 deficient in the 3-6 O-glycans usually present in the hinge-region segments of the heavy chains of immunoglobulin A1. Galactose-deficient IgA1 (Gd-IgA1) glycoforms are significantly more abundant in individuals with IgA nephropathy than in healthy individuals." []	564581	\N	\N	EFO	2	EFO	antibody measurement	serum galactose-deficient IgA1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007947	"Quantification of the galactose-deficient immunoglobulin A1, a form of immunoglobulin A1 deficient in the 3-6 O-glycans usually present in the hinge-region segments of the heavy chains of immunoglobulin A1. Galactose-deficient IgA1 (Gd-IgA1) glycoforms are significantly more abundant in individuals with IgA nephropathy than in healthy individuals." []	2028201	\N	\N	EFO	4	EFO	information entity	serum galactose-deficient IgA1 measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007947	"Quantification of the galactose-deficient immunoglobulin A1, a form of immunoglobulin A1 deficient in the 3-6 O-glycans usually present in the hinge-region segments of the heavy chains of immunoglobulin A1. Galactose-deficient IgA1 (Gd-IgA1) glycoforms are significantly more abundant in individuals with IgA nephropathy than in healthy individuals." []	1145755	\N	\N	EFO	3	EFO	measurement	serum galactose-deficient IgA1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007947	"Quantification of the galactose-deficient immunoglobulin A1, a form of immunoglobulin A1 deficient in the 3-6 O-glycans usually present in the hinge-region segments of the heavy chains of immunoglobulin A1. Galactose-deficient IgA1 (Gd-IgA1) glycoforms are significantly more abundant in individuals with IgA nephropathy than in healthy individuals." []	2999910	\N	\N	EFO	5	EFO	experimental factor	serum galactose-deficient IgA1 measurement
EFO:0007948	\N	\N	"HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overall\\nprevalence of HAND is 3050% among unselected HIV-infected\\npersons." []	EFO:0007948	"HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overall\\nprevalence of HAND is 3050% among unselected HIV-infected\\npersons." []	69185	\N	\N	EFO	0	EFO	HIV-associated neurocognitive disorder	HIV-associated neurocognitive disorder
HP:0100543	\N	\N	"Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]	EFO:0007948	"HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overall\\nprevalence of HAND is 3050% among unselected HIV-infected\\npersons." []	194930	\N	\N	EFO	0	EFO	Cognitive impairment	HIV-associated neurocognitive disorder
EFO:0006843	EFO:0007948	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0007948	"HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overall\\nprevalence of HAND is 3050% among unselected HIV-infected\\npersons." []	211322	\N	\N	EFO	1	EFO	infectious disease biomarker	HIV-associated neurocognitive disorder
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007948	"HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overall\\nprevalence of HAND is 3050% among unselected HIV-infected\\npersons." []	564582	\N	\N	EFO	2	EFO	measurement	HIV-associated neurocognitive disorder
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007948	"HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overall\\nprevalence of HAND is 3050% among unselected HIV-infected\\npersons." []	1145756	\N	\N	EFO	3	EFO	information entity	HIV-associated neurocognitive disorder
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007948	"HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overall\\nprevalence of HAND is 3050% among unselected HIV-infected\\npersons." []	2028202	\N	\N	EFO	4	EFO	experimental factor	HIV-associated neurocognitive disorder
EFO:0007949	\N	\N	"Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." []	EFO:0007949	"Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." []	69186	\N	\N	EFO	0	EFO	acute-on-chronic liver failure	acute-on-chronic liver failure
HP:0001392	\N	\N	"An abnormality of the liver." [HPO:probinson]	EFO:0007949	"Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." []	194931	\N	\N	EFO	0	EFO	Abnormality of the liver	acute-on-chronic liver failure
EFO:0001421	EFO:0007949	\N	"Pathological processes of the LIVER." []	EFO:0007949	"Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." []	211323	\N	\N	EFO	1	EFO	liver disease	acute-on-chronic liver failure
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:0007949	"Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." []	564583	\N	\N	EFO	2	EFO	digestive system disease	acute-on-chronic liver failure
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:0007949	"Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." []	564584	\N	\N	EFO	2	EFO	endocrine system disease	acute-on-chronic liver failure
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007949	"Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." []	1145757	\N	\N	EFO	3	EFO	disease	acute-on-chronic liver failure
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:0007949	"Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." []	1145758	\N	\N	EFO	3	EFO	disease	acute-on-chronic liver failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:0007949	"Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." []	2028203	\N	\N	EFO	4	EFO	disposition	acute-on-chronic liver failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0007949	"Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." []	3179417	\N	\N	EFO	5	EFO	material property	acute-on-chronic liver failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007949	"Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality." []	4388763	\N	\N	EFO	6	EFO	experimental factor	acute-on-chronic liver failure
EFO:0007950	\N	\N	"Induced pluripotent stem cell line; Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this cell line was made is GM23248and a matching lymphoblast line from this same subject is GM20431." []	EFO:0007950	"Induced pluripotent stem cell line; Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this cell line was made is GM23248and a matching lymphoblast line from this same subject is GM20431." []	69187	\N	\N	EFO	0	EFO	GM23338	GM23338
EFO:0002888	EFO:0007950	\N	"" []	EFO:0007950	"Induced pluripotent stem cell line; Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this cell line was made is GM23248and a matching lymphoblast line from this same subject is GM20431." []	211324	\N	\N	EFO	1	EFO	Homo sapiens cell line	GM23338
EFO:0005740	EFO:0007950	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007950	"Induced pluripotent stem cell line; Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this cell line was made is GM23248and a matching lymphoblast line from this same subject is GM20431." []	211325	\N	\N	EFO	1	EFO	iPSC derived cell line	GM23338
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007950	"Induced pluripotent stem cell line; Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this cell line was made is GM23248and a matching lymphoblast line from this same subject is GM20431." []	564585	\N	\N	EFO	2	EFO	cell line	GM23338
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007950	"Induced pluripotent stem cell line; Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this cell line was made is GM23248and a matching lymphoblast line from this same subject is GM20431." []	564586	\N	\N	EFO	2	EFO	stem cell derived cell line	GM23338
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007950	"Induced pluripotent stem cell line; Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this cell line was made is GM23248and a matching lymphoblast line from this same subject is GM20431." []	2028205	\N	\N	EFO	4	EFO	material entity	GM23338
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007950	"Induced pluripotent stem cell line; Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this cell line was made is GM23248and a matching lymphoblast line from this same subject is GM20431." []	1145760	\N	\N	EFO	3	EFO	cell line	GM23338
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007950	"Induced pluripotent stem cell line; Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this cell line was made is GM23248and a matching lymphoblast line from this same subject is GM20431." []	2999911	\N	\N	EFO	5	EFO	experimental factor	GM23338
EFO:0007951	\N	\N	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, c-MYC, hTERT, and SV40 Large T antigen transgenes. Cells express pluripotent markers and have a normal karyotype, 46XY." []	EFO:0007951	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, c-MYC, hTERT, and SV40 Large T antigen transgenes. Cells express pluripotent markers and have a normal karyotype, 46XY." []	69188	\N	\N	EFO	0	EFO	hFib2-iPS4	hFib2-iPS4
EFO:0002888	EFO:0007951	\N	"" []	EFO:0007951	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, c-MYC, hTERT, and SV40 Large T antigen transgenes. Cells express pluripotent markers and have a normal karyotype, 46XY." []	211326	\N	\N	EFO	1	EFO	Homo sapiens cell line	hFib2-iPS4
EFO:0005740	EFO:0007951	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007951	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, c-MYC, hTERT, and SV40 Large T antigen transgenes. Cells express pluripotent markers and have a normal karyotype, 46XY." []	211327	\N	\N	EFO	1	EFO	iPSC derived cell line	hFib2-iPS4
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007951	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, c-MYC, hTERT, and SV40 Large T antigen transgenes. Cells express pluripotent markers and have a normal karyotype, 46XY." []	564587	\N	\N	EFO	2	EFO	cell line	hFib2-iPS4
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007951	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, c-MYC, hTERT, and SV40 Large T antigen transgenes. Cells express pluripotent markers and have a normal karyotype, 46XY." []	564588	\N	\N	EFO	2	EFO	stem cell derived cell line	hFib2-iPS4
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007951	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, c-MYC, hTERT, and SV40 Large T antigen transgenes. Cells express pluripotent markers and have a normal karyotype, 46XY." []	2028207	\N	\N	EFO	4	EFO	material entity	hFib2-iPS4
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007951	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, c-MYC, hTERT, and SV40 Large T antigen transgenes. Cells express pluripotent markers and have a normal karyotype, 46XY." []	1145762	\N	\N	EFO	3	EFO	cell line	hFib2-iPS4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007951	"This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, c-MYC, hTERT, and SV40 Large T antigen transgenes. Cells express pluripotent markers and have a normal karyotype, 46XY." []	2999912	\N	\N	EFO	5	EFO	experimental factor	hFib2-iPS4
EFO:0007952	\N	\N	"Induced pluripotent stem cell line isolated from skin sample AG20443." []	EFO:0007952	"Induced pluripotent stem cell line isolated from skin sample AG20443." []	69189	\N	\N	EFO	0	EFO	iPS-NIHi11	iPS-NIHi11
EFO:0002888	EFO:0007952	\N	"" []	EFO:0007952	"Induced pluripotent stem cell line isolated from skin sample AG20443." []	211328	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-NIHi11
EFO:0005740	EFO:0007952	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007952	"Induced pluripotent stem cell line isolated from skin sample AG20443." []	211329	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-NIHi11
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007952	"Induced pluripotent stem cell line isolated from skin sample AG20443." []	564589	\N	\N	EFO	2	EFO	cell line	iPS-NIHi11
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007952	"Induced pluripotent stem cell line isolated from skin sample AG20443." []	564590	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-NIHi11
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007952	"Induced pluripotent stem cell line isolated from skin sample AG20443." []	2028209	\N	\N	EFO	4	EFO	material entity	iPS-NIHi11
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007952	"Induced pluripotent stem cell line isolated from skin sample AG20443." []	1145764	\N	\N	EFO	3	EFO	cell line	iPS-NIHi11
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007952	"Induced pluripotent stem cell line isolated from skin sample AG20443." []	2999913	\N	\N	EFO	5	EFO	experimental factor	iPS-NIHi11
EFO:0007953	\N	\N	"Induced pluripotent stem cell line isolated from skin sample AG08395." []	EFO:0007953	"Induced pluripotent stem cell line isolated from skin sample AG08395." []	69190	\N	\N	EFO	0	EFO	iPS-NIHi7	iPS-NIHi7
EFO:0002888	EFO:0007953	\N	"" []	EFO:0007953	"Induced pluripotent stem cell line isolated from skin sample AG08395." []	211330	\N	\N	EFO	1	EFO	Homo sapiens cell line	iPS-NIHi7
EFO:0005740	EFO:0007953	\N	"iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell)." []	EFO:0007953	"Induced pluripotent stem cell line isolated from skin sample AG08395." []	211331	\N	\N	EFO	1	EFO	iPSC derived cell line	iPS-NIHi7
EFO:0000322	EFO:0002888	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007953	"Induced pluripotent stem cell line isolated from skin sample AG08395." []	564591	\N	\N	EFO	2	EFO	cell line	iPS-NIHi7
EFO:0002886	EFO:0005740	\N	"Cell lines derived from stem cells." []	EFO:0007953	"Induced pluripotent stem cell line isolated from skin sample AG08395." []	564592	\N	\N	EFO	2	EFO	stem cell derived cell line	iPS-NIHi7
BFO:0000040	EFO:0000322	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:0007953	"Induced pluripotent stem cell line isolated from skin sample AG08395." []	2028211	\N	\N	EFO	4	EFO	material entity	iPS-NIHi7
EFO:0000322	EFO:0002886	\N	"A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism." []	EFO:0007953	"Induced pluripotent stem cell line isolated from skin sample AG08395." []	1145766	\N	\N	EFO	3	EFO	cell line	iPS-NIHi7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007953	"Induced pluripotent stem cell line isolated from skin sample AG08395." []	2999914	\N	\N	EFO	5	EFO	experimental factor	iPS-NIHi7
EFO:0007955	\N	\N	"quantification of some aspect of mouth morphology such as mouth width" []	EFO:0007955	"quantification of some aspect of mouth morphology such as mouth width" []	69191	\N	\N	EFO	0	EFO	mouth morphology measurement	mouth morphology measurement
EFO:0007841	EFO:0007955	\N	"quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion" []	EFO:0007955	"quantification of some aspect of mouth morphology such as mouth width" []	211332	\N	\N	EFO	1	EFO	facial morphology measurement	mouth morphology measurement
EFO:0001444	EFO:0007841	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007955	"quantification of some aspect of mouth morphology such as mouth width" []	564593	\N	\N	EFO	2	EFO	measurement	mouth morphology measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007955	"quantification of some aspect of mouth morphology such as mouth width" []	1145767	\N	\N	EFO	3	EFO	information entity	mouth morphology measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007955	"quantification of some aspect of mouth morphology such as mouth width" []	2028212	\N	\N	EFO	4	EFO	experimental factor	mouth morphology measurement
EFO:0007956	\N	\N	"quantification of the ratio between absolute monocyte count and absolute lymphocyte count" []	EFO:0007956	"quantification of the ratio between absolute monocyte count and absolute lymphocyte count" []	69192	\N	\N	EFO	0	EFO	monocyte:lymphocyte ratio	monocyte:lymphocyte ratio
EFO:0004503	EFO:0007956	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007956	"quantification of the ratio between absolute monocyte count and absolute lymphocyte count" []	211333	\N	\N	EFO	1	EFO	hematological measurement	monocyte:lymphocyte ratio
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007956	"quantification of the ratio between absolute monocyte count and absolute lymphocyte count" []	564594	\N	\N	EFO	2	EFO	measurement	monocyte:lymphocyte ratio
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007956	"quantification of the ratio between absolute monocyte count and absolute lymphocyte count" []	1145768	\N	\N	EFO	3	EFO	information entity	monocyte:lymphocyte ratio
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007956	"quantification of the ratio between absolute monocyte count and absolute lymphocyte count" []	2028213	\N	\N	EFO	4	EFO	experimental factor	monocyte:lymphocyte ratio
EFO:0007957	\N	\N	"quantification in a urine sample of 1,3-butadiene, a metabolite found in tobacco smoke and which is known to have carcinogenic properties" []	EFO:0007957	"quantification in a urine sample of 1,3-butadiene, a metabolite found in tobacco smoke and which is known to have carcinogenic properties" []	69193	\N	\N	EFO	0	EFO	urinary 1,3-butadiene measurement	urinary 1,3-butadiene measurement
EFO:0005116	EFO:0007957	\N	"quantification of some metabolite in urine" []	EFO:0007957	"quantification in a urine sample of 1,3-butadiene, a metabolite found in tobacco smoke and which is known to have carcinogenic properties" []	211334	\N	\N	EFO	1	EFO	urinary metabolite measurement	urinary 1,3-butadiene measurement
EFO:0004725	EFO:0005116	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0007957	"quantification in a urine sample of 1,3-butadiene, a metabolite found in tobacco smoke and which is known to have carcinogenic properties" []	564595	\N	\N	EFO	2	EFO	metabolite measurement	urinary 1,3-butadiene measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007957	"quantification in a urine sample of 1,3-butadiene, a metabolite found in tobacco smoke and which is known to have carcinogenic properties" []	1145769	\N	\N	EFO	3	EFO	measurement	urinary 1,3-butadiene measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007957	"quantification in a urine sample of 1,3-butadiene, a metabolite found in tobacco smoke and which is known to have carcinogenic properties" []	2028214	\N	\N	EFO	4	EFO	information entity	urinary 1,3-butadiene measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007957	"quantification in a urine sample of 1,3-butadiene, a metabolite found in tobacco smoke and which is known to have carcinogenic properties" []	3179418	\N	\N	EFO	5	EFO	experimental factor	urinary 1,3-butadiene measurement
EFO:0007958	\N	\N	"quantification of the effect of an external genotype, eg from a parent/fetus during pregnancy or organ donor, on some aspect of an individual's metabolic processes" []	EFO:0007958	"quantification of the effect of an external genotype, eg from a parent/fetus during pregnancy or organ donor, on some aspect of an individual's metabolic processes" []	69194	\N	\N	EFO	0	EFO	genotype effect measurement	genotype effect measurement
EFO:0001444	EFO:0007958	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007958	"quantification of the effect of an external genotype, eg from a parent/fetus during pregnancy or organ donor, on some aspect of an individual's metabolic processes" []	211335	\N	\N	EFO	1	EFO	measurement	genotype effect measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007958	"quantification of the effect of an external genotype, eg from a parent/fetus during pregnancy or organ donor, on some aspect of an individual's metabolic processes" []	564596	\N	\N	EFO	2	EFO	information entity	genotype effect measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007958	"quantification of the effect of an external genotype, eg from a parent/fetus during pregnancy or organ donor, on some aspect of an individual's metabolic processes" []	1145770	\N	\N	EFO	3	EFO	experimental factor	genotype effect measurement
EFO:0007959	\N	\N	"quantification of the effect of the fetal genotype on the metabolic processes of the mother during pregnancy" []	EFO:0007959	"quantification of the effect of the fetal genotype on the metabolic processes of the mother during pregnancy" []	69195	\N	\N	EFO	0	EFO	fetal genotype effect measurement	fetal genotype effect measurement
EFO:0007958	EFO:0007959	\N	"quantification of the effect of an external genotype, eg from a parent/fetus during pregnancy or organ donor, on some aspect of an individual's metabolic processes" []	EFO:0007959	"quantification of the effect of the fetal genotype on the metabolic processes of the mother during pregnancy" []	211336	\N	\N	EFO	1	EFO	genotype effect measurement	fetal genotype effect measurement
EFO:0001444	EFO:0007958	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007959	"quantification of the effect of the fetal genotype on the metabolic processes of the mother during pregnancy" []	564597	\N	\N	EFO	2	EFO	measurement	fetal genotype effect measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007959	"quantification of the effect of the fetal genotype on the metabolic processes of the mother during pregnancy" []	1145771	\N	\N	EFO	3	EFO	information entity	fetal genotype effect measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007959	"quantification of the effect of the fetal genotype on the metabolic processes of the mother during pregnancy" []	2028215	\N	\N	EFO	4	EFO	experimental factor	fetal genotype effect measurement
EFO:0007960	\N	\N	"quantification of organochlorine pesticides or metabolites derived from organochloride pesticides in a sample" []	EFO:0007960	"quantification of organochlorine pesticides or metabolites derived from organochloride pesticides in a sample" []	69196	\N	\N	EFO	0	EFO	organochlorine pesticide measurement	organochlorine pesticide measurement
EFO:0001444	EFO:0007960	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007960	"quantification of organochlorine pesticides or metabolites derived from organochloride pesticides in a sample" []	211337	\N	\N	EFO	1	EFO	measurement	organochlorine pesticide measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007960	"quantification of organochlorine pesticides or metabolites derived from organochloride pesticides in a sample" []	564598	\N	\N	EFO	2	EFO	information entity	organochlorine pesticide measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007960	"quantification of organochlorine pesticides or metabolites derived from organochloride pesticides in a sample" []	1145772	\N	\N	EFO	3	EFO	experimental factor	organochlorine pesticide measurement
EFO:0007961	\N	\N	"quantification in a sample of some polybrominated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	EFO:0007961	"quantification in a sample of some polybrominated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	69197	\N	\N	EFO	0	EFO	polybrominated biphenyl measurement	polybrominated biphenyl measurement
EFO:0001444	EFO:0007961	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007961	"quantification in a sample of some polybrominated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	211338	\N	\N	EFO	1	EFO	measurement	polybrominated biphenyl measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007961	"quantification in a sample of some polybrominated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	564599	\N	\N	EFO	2	EFO	information entity	polybrominated biphenyl measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007961	"quantification in a sample of some polybrominated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	1145773	\N	\N	EFO	3	EFO	experimental factor	polybrominated biphenyl measurement
EFO:0007962	\N	\N	"quantification in a sample of some polybrominated diphenyl ethers, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	EFO:0007962	"quantification in a sample of some polybrominated diphenyl ethers, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	69198	\N	\N	EFO	0	EFO	polybrominated diphenyl ether measurement	polybrominated diphenyl ether measurement
EFO:0001444	EFO:0007962	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007962	"quantification in a sample of some polybrominated diphenyl ethers, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	211339	\N	\N	EFO	1	EFO	measurement	polybrominated diphenyl ether measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007962	"quantification in a sample of some polybrominated diphenyl ethers, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	564600	\N	\N	EFO	2	EFO	information entity	polybrominated diphenyl ether measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007962	"quantification in a sample of some polybrominated diphenyl ethers, a group of man-made environmental pollutants which accumulate in humans with adverse health effects" []	1145774	\N	\N	EFO	3	EFO	experimental factor	polybrominated diphenyl ether measurement
EFO:0007963	\N	\N	"quantification of some aspect of Paneth cell abnormality, such as abnormal morphology or abnormal number of cells. Paneth cells, along with goblet cells, enterocytes, and enteroendocrine cells, represent the principal cell types of the epithelium of the small intestine." []	EFO:0007963	"quantification of some aspect of Paneth cell abnormality, such as abnormal morphology or abnormal number of cells. Paneth cells, along with goblet cells, enterocytes, and enteroendocrine cells, represent the principal cell types of the epithelium of the small intestine." []	69199	\N	\N	EFO	0	EFO	abnormal paneth cell measurement	abnormal paneth cell measurement
EFO:0001444	EFO:0007963	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007963	"quantification of some aspect of Paneth cell abnormality, such as abnormal morphology or abnormal number of cells. Paneth cells, along with goblet cells, enterocytes, and enteroendocrine cells, represent the principal cell types of the epithelium of the small intestine." []	211340	\N	\N	EFO	1	EFO	measurement	abnormal paneth cell measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007963	"quantification of some aspect of Paneth cell abnormality, such as abnormal morphology or abnormal number of cells. Paneth cells, along with goblet cells, enterocytes, and enteroendocrine cells, represent the principal cell types of the epithelium of the small intestine." []	564601	\N	\N	EFO	2	EFO	information entity	abnormal paneth cell measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007963	"quantification of some aspect of Paneth cell abnormality, such as abnormal morphology or abnormal number of cells. Paneth cells, along with goblet cells, enterocytes, and enteroendocrine cells, represent the principal cell types of the epithelium of the small intestine." []	1145775	\N	\N	EFO	3	EFO	experimental factor	abnormal paneth cell measurement
EFO:0007964	\N	\N	"quantification of some chemical compound such as a metabolite or environmental pollutant in a serum sample taken from a women at some stage during pregnancy" []	EFO:0007964	"quantification of some chemical compound such as a metabolite or environmental pollutant in a serum sample taken from a women at some stage during pregnancy" []	69200	\N	\N	EFO	0	EFO	gestational serum measurement	gestational serum measurement
EFO:0001444	EFO:0007964	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007964	"quantification of some chemical compound such as a metabolite or environmental pollutant in a serum sample taken from a women at some stage during pregnancy" []	211341	\N	\N	EFO	1	EFO	measurement	gestational serum measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007964	"quantification of some chemical compound such as a metabolite or environmental pollutant in a serum sample taken from a women at some stage during pregnancy" []	564602	\N	\N	EFO	2	EFO	information entity	gestational serum measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007964	"quantification of some chemical compound such as a metabolite or environmental pollutant in a serum sample taken from a women at some stage during pregnancy" []	1145776	\N	\N	EFO	3	EFO	experimental factor	gestational serum measurement
EFO:0007965	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a combination of chemotherapeutic agents. Chemotherapeutic drugs are often administered in combination in order to maximise treatment effect." []	EFO:0007965	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a combination of chemotherapeutic agents. Chemotherapeutic drugs are often administered in combination in order to maximise treatment effect." []	69201	\N	\N	EFO	0	EFO	response to combination chemotherapy	response to combination chemotherapy
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0007965	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a combination of chemotherapeutic agents. Chemotherapeutic drugs are often administered in combination in order to maximise treatment effect." []	194932	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to combination chemotherapy
EFO:0007966	\N	\N	"quantification of the activate metabolite of the platelet aggregation inhibitor clopidogrel in a sample" []	EFO:0007966	"quantification of the activate metabolite of the platelet aggregation inhibitor clopidogrel in a sample" []	69202	\N	\N	EFO	0	EFO	clopidogrel metabolite measurement	clopidogrel metabolite measurement
EFO:0004725	EFO:0007966	\N	"This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class." []	EFO:0007966	"quantification of the activate metabolite of the platelet aggregation inhibitor clopidogrel in a sample" []	211342	\N	\N	EFO	1	EFO	metabolite measurement	clopidogrel metabolite measurement
EFO:0001444	EFO:0004725	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007966	"quantification of the activate metabolite of the platelet aggregation inhibitor clopidogrel in a sample" []	564603	\N	\N	EFO	2	EFO	measurement	clopidogrel metabolite measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007966	"quantification of the activate metabolite of the platelet aggregation inhibitor clopidogrel in a sample" []	1145777	\N	\N	EFO	3	EFO	information entity	clopidogrel metabolite measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007966	"quantification of the activate metabolite of the platelet aggregation inhibitor clopidogrel in a sample" []	2028216	\N	\N	EFO	4	EFO	experimental factor	clopidogrel metabolite measurement
EFO:0007967	\N	\N	"quantification of the concentration of ions in blood, often expressed as a function of sodium and glucose concentrations" []	EFO:0007967	"quantification of the concentration of ions in blood, often expressed as a function of sodium and glucose concentrations" []	69203	\N	\N	EFO	0	EFO	blood osmolality measurement	blood osmolality measurement
EFO:0001444	EFO:0007967	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007967	"quantification of the concentration of ions in blood, often expressed as a function of sodium and glucose concentrations" []	211343	\N	\N	EFO	1	EFO	measurement	blood osmolality measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007967	"quantification of the concentration of ions in blood, often expressed as a function of sodium and glucose concentrations" []	564604	\N	\N	EFO	2	EFO	information entity	blood osmolality measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007967	"quantification of the concentration of ions in blood, often expressed as a function of sodium and glucose concentrations" []	1145778	\N	\N	EFO	3	EFO	experimental factor	blood osmolality measurement
EFO:0007968	\N	\N	"quantification of the amount of tissue factor pathway inhibitor in a sample" []	EFO:0007968	"quantification of the amount of tissue factor pathway inhibitor in a sample" []	69204	\N	\N	EFO	0	EFO	tissue factor pathway inhibitor measurement	tissue factor pathway inhibitor measurement
EFO:0001444	EFO:0007968	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007968	"quantification of the amount of tissue factor pathway inhibitor in a sample" []	211344	\N	\N	EFO	1	EFO	measurement	tissue factor pathway inhibitor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007968	"quantification of the amount of tissue factor pathway inhibitor in a sample" []	564605	\N	\N	EFO	2	EFO	information entity	tissue factor pathway inhibitor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007968	"quantification of the amount of tissue factor pathway inhibitor in a sample" []	1145779	\N	\N	EFO	3	EFO	experimental factor	tissue factor pathway inhibitor measurement
EFO:0007969	\N	\N	"quantification of cognitive inhibition or executive inhibition in an individual with ADHD, measured for example using the Stroop test" []	EFO:0007969	"quantification of cognitive inhibition or executive inhibition in an individual with ADHD, measured for example using the Stroop test" []	69205	\N	\N	EFO	0	EFO	cognitive inhibition measurement	cognitive inhibition measurement
EFO:0006848	EFO:0007969	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007969	"quantification of cognitive inhibition or executive inhibition in an individual with ADHD, measured for example using the Stroop test" []	211345	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	cognitive inhibition measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007969	"quantification of cognitive inhibition or executive inhibition in an individual with ADHD, measured for example using the Stroop test" []	564606	\N	\N	EFO	2	EFO	measurement	cognitive inhibition measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007969	"quantification of cognitive inhibition or executive inhibition in an individual with ADHD, measured for example using the Stroop test" []	1145780	\N	\N	EFO	3	EFO	information entity	cognitive inhibition measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007969	"quantification of cognitive inhibition or executive inhibition in an individual with ADHD, measured for example using the Stroop test" []	2028217	\N	\N	EFO	4	EFO	experimental factor	cognitive inhibition measurement
EFO:0007970	\N	\N	"quantification of the amount of estrone in a sample" []	EFO:0007970	"quantification of the amount of estrone in a sample" []	69206	\N	\N	EFO	0	EFO	estrone measurement	estrone measurement
EFO:0001444	EFO:0007970	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007970	"quantification of the amount of estrone in a sample" []	211346	\N	\N	EFO	1	EFO	measurement	estrone measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007970	"quantification of the amount of estrone in a sample" []	564607	\N	\N	EFO	2	EFO	information entity	estrone measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007970	"quantification of the amount of estrone in a sample" []	1145781	\N	\N	EFO	3	EFO	experimental factor	estrone measurement
EFO:0007971	\N	\N	"quantification of the amount of estrone conjugates, such as sulphate and glucuronide conjugates, in a sample" []	EFO:0007971	"quantification of the amount of estrone conjugates, such as sulphate and glucuronide conjugates, in a sample" []	69207	\N	\N	EFO	0	EFO	estrone conjugate measurement	estrone conjugate measurement
EFO:0001444	EFO:0007971	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007971	"quantification of the amount of estrone conjugates, such as sulphate and glucuronide conjugates, in a sample" []	211347	\N	\N	EFO	1	EFO	measurement	estrone conjugate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007971	"quantification of the amount of estrone conjugates, such as sulphate and glucuronide conjugates, in a sample" []	564608	\N	\N	EFO	2	EFO	information entity	estrone conjugate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007971	"quantification of the amount of estrone conjugates, such as sulphate and glucuronide conjugates, in a sample" []	1145782	\N	\N	EFO	3	EFO	experimental factor	estrone conjugate measurement
EFO:0007972	\N	\N	"quantification of androstenedione in a sample" []	EFO:0007972	"quantification of androstenedione in a sample" []	69208	\N	\N	EFO	0	EFO	androstenedione measurement	androstenedione measurement
EFO:0001444	EFO:0007972	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007972	"quantification of androstenedione in a sample" []	211348	\N	\N	EFO	1	EFO	measurement	androstenedione measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007972	"quantification of androstenedione in a sample" []	564609	\N	\N	EFO	2	EFO	information entity	androstenedione measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007972	"quantification of androstenedione in a sample" []	1145783	\N	\N	EFO	3	EFO	experimental factor	androstenedione measurement
EFO:0007973	\N	\N	"The determination of the amount of palmitoleic acid present in a sample." []	EFO:0007973	"The determination of the amount of palmitoleic acid present in a sample." []	69209	\N	\N	EFO	0	EFO	palmitoleic acid measurement	palmitoleic acid measurement
EFO:0005110	EFO:0007973	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0007973	"The determination of the amount of palmitoleic acid present in a sample." []	211349	\N	\N	EFO	1	EFO	fatty acid measurement	palmitoleic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0007973	"The determination of the amount of palmitoleic acid present in a sample." []	564610	\N	\N	EFO	2	EFO	lipid measurement	palmitoleic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007973	"The determination of the amount of palmitoleic acid present in a sample." []	1145784	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	palmitoleic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007973	"The determination of the amount of palmitoleic acid present in a sample." []	2028218	\N	\N	EFO	4	EFO	measurement	palmitoleic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007973	"The determination of the amount of palmitoleic acid present in a sample." []	3179419	\N	\N	EFO	5	EFO	information entity	palmitoleic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007973	"The determination of the amount of palmitoleic acid present in a sample." []	4388764	\N	\N	EFO	6	EFO	experimental factor	palmitoleic acid measurement
EFO:0007974	\N	\N	"The determination of the amount of vaccenic acid present in a sample." []	EFO:0007974	"The determination of the amount of vaccenic acid present in a sample." []	69210	\N	\N	EFO	0	EFO	vaccenic acid measurement	vaccenic acid measurement
EFO:0005110	EFO:0007974	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0007974	"The determination of the amount of vaccenic acid present in a sample." []	211350	\N	\N	EFO	1	EFO	fatty acid measurement	vaccenic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0007974	"The determination of the amount of vaccenic acid present in a sample." []	564611	\N	\N	EFO	2	EFO	lipid measurement	vaccenic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007974	"The determination of the amount of vaccenic acid present in a sample." []	1145785	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	vaccenic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007974	"The determination of the amount of vaccenic acid present in a sample." []	2028219	\N	\N	EFO	4	EFO	measurement	vaccenic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007974	"The determination of the amount of vaccenic acid present in a sample." []	3179420	\N	\N	EFO	5	EFO	information entity	vaccenic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007974	"The determination of the amount of vaccenic acid present in a sample." []	4388765	\N	\N	EFO	6	EFO	experimental factor	vaccenic acid measurement
EFO:0007975	\N	\N	"The determination of the amount of gondoic acid present in a sample." []	EFO:0007975	"The determination of the amount of gondoic acid present in a sample." []	69211	\N	\N	EFO	0	EFO	gondoic acid measurement	gondoic acid measurement
EFO:0005110	EFO:0007975	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0007975	"The determination of the amount of gondoic acid present in a sample." []	211351	\N	\N	EFO	1	EFO	fatty acid measurement	gondoic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0007975	"The determination of the amount of gondoic acid present in a sample." []	564612	\N	\N	EFO	2	EFO	lipid measurement	gondoic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007975	"The determination of the amount of gondoic acid present in a sample." []	1145786	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	gondoic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007975	"The determination of the amount of gondoic acid present in a sample." []	2028220	\N	\N	EFO	4	EFO	measurement	gondoic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007975	"The determination of the amount of gondoic acid present in a sample." []	3179421	\N	\N	EFO	5	EFO	information entity	gondoic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007975	"The determination of the amount of gondoic acid present in a sample." []	4388766	\N	\N	EFO	6	EFO	experimental factor	gondoic acid measurement
EFO:0007976	\N	\N	"The determination of the amount of erucic acid present in a sample." []	EFO:0007976	"The determination of the amount of erucic acid present in a sample." []	69212	\N	\N	EFO	0	EFO	erucic acid measurement	erucic acid measurement
EFO:0005110	EFO:0007976	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0007976	"The determination of the amount of erucic acid present in a sample." []	211352	\N	\N	EFO	1	EFO	fatty acid measurement	erucic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0007976	"The determination of the amount of erucic acid present in a sample." []	564613	\N	\N	EFO	2	EFO	lipid measurement	erucic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007976	"The determination of the amount of erucic acid present in a sample." []	1145787	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	erucic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007976	"The determination of the amount of erucic acid present in a sample." []	2028221	\N	\N	EFO	4	EFO	measurement	erucic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007976	"The determination of the amount of erucic acid present in a sample." []	3179422	\N	\N	EFO	5	EFO	information entity	erucic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007976	"The determination of the amount of erucic acid present in a sample." []	4388767	\N	\N	EFO	6	EFO	experimental factor	erucic acid measurement
EFO:0007977	\N	\N	"The determination of the amount of nervonic acid present in a sample." []	EFO:0007977	"The determination of the amount of nervonic acid present in a sample." []	69213	\N	\N	EFO	0	EFO	nervonic acid measurement	nervonic acid measurement
EFO:0005110	EFO:0007977	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0007977	"The determination of the amount of nervonic acid present in a sample." []	211353	\N	\N	EFO	1	EFO	fatty acid measurement	nervonic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0007977	"The determination of the amount of nervonic acid present in a sample." []	564614	\N	\N	EFO	2	EFO	lipid measurement	nervonic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0007977	"The determination of the amount of nervonic acid present in a sample." []	1145788	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	nervonic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007977	"The determination of the amount of nervonic acid present in a sample." []	2028222	\N	\N	EFO	4	EFO	measurement	nervonic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007977	"The determination of the amount of nervonic acid present in a sample." []	3179423	\N	\N	EFO	5	EFO	information entity	nervonic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007977	"The determination of the amount of nervonic acid present in a sample." []	4388768	\N	\N	EFO	6	EFO	experimental factor	nervonic acid measurement
EFO:0007978	\N	\N	"quantification of the density of a red blood cell (DRBC). DRBC is affected by the hydration level of the cell, with dehydrated cells being dense and deformed. Increased DRBC may be an indicator of disease severity in sickle cell anemia" []	EFO:0007978	"quantification of the density of a red blood cell (DRBC). DRBC is affected by the hydration level of the cell, with dehydrated cells being dense and deformed. Increased DRBC may be an indicator of disease severity in sickle cell anemia" []	69214	\N	\N	EFO	0	EFO	red blood cell density measurement	red blood cell density measurement
EFO:0005047	EFO:0007978	\N	"Is a quantification of some aspect of erythrocyte function, quanity, or composition." []	EFO:0007978	"quantification of the density of a red blood cell (DRBC). DRBC is affected by the hydration level of the cell, with dehydrated cells being dense and deformed. Increased DRBC may be an indicator of disease severity in sickle cell anemia" []	211354	\N	\N	EFO	1	EFO	erythrocyte measurement	red blood cell density measurement
EFO:0004503	EFO:0005047	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007978	"quantification of the density of a red blood cell (DRBC). DRBC is affected by the hydration level of the cell, with dehydrated cells being dense and deformed. Increased DRBC may be an indicator of disease severity in sickle cell anemia" []	564615	\N	\N	EFO	2	EFO	hematological measurement	red blood cell density measurement
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007978	"quantification of the density of a red blood cell (DRBC). DRBC is affected by the hydration level of the cell, with dehydrated cells being dense and deformed. Increased DRBC may be an indicator of disease severity in sickle cell anemia" []	1145789	\N	\N	EFO	3	EFO	measurement	red blood cell density measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007978	"quantification of the density of a red blood cell (DRBC). DRBC is affected by the hydration level of the cell, with dehydrated cells being dense and deformed. Increased DRBC may be an indicator of disease severity in sickle cell anemia" []	2028223	\N	\N	EFO	4	EFO	information entity	red blood cell density measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007978	"quantification of the density of a red blood cell (DRBC). DRBC is affected by the hydration level of the cell, with dehydrated cells being dense and deformed. Increased DRBC may be an indicator of disease severity in sickle cell anemia" []	3179424	\N	\N	EFO	5	EFO	experimental factor	red blood cell density measurement
EFO:0007979	\N	\N	"quantification of some aspect of childhood trauma such as type, severity or duration. Childhood trauma can be reliably assessed through the Childhood Trauma Questionnaire (CTQ), a 28-item self-report inventory of early life adverse events. " []	EFO:0007979	"quantification of some aspect of childhood trauma such as type, severity or duration. Childhood trauma can be reliably assessed through the Childhood Trauma Questionnaire (CTQ), a 28-item self-report inventory of early life adverse events. " []	69215	\N	\N	EFO	0	EFO	childhood trauma measurement	childhood trauma measurement
EFO:0006848	EFO:0007979	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0007979	"quantification of some aspect of childhood trauma such as type, severity or duration. Childhood trauma can be reliably assessed through the Childhood Trauma Questionnaire (CTQ), a 28-item self-report inventory of early life adverse events. " []	211355	\N	\N	EFO	1	EFO	mental or behavioural disorder biomarker	childhood trauma measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007979	"quantification of some aspect of childhood trauma such as type, severity or duration. Childhood trauma can be reliably assessed through the Childhood Trauma Questionnaire (CTQ), a 28-item self-report inventory of early life adverse events. " []	564616	\N	\N	EFO	2	EFO	measurement	childhood trauma measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007979	"quantification of some aspect of childhood trauma such as type, severity or duration. Childhood trauma can be reliably assessed through the Childhood Trauma Questionnaire (CTQ), a 28-item self-report inventory of early life adverse events. " []	1145790	\N	\N	EFO	3	EFO	information entity	childhood trauma measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007979	"quantification of some aspect of childhood trauma such as type, severity or duration. Childhood trauma can be reliably assessed through the Childhood Trauma Questionnaire (CTQ), a 28-item self-report inventory of early life adverse events. " []	2028224	\N	\N	EFO	4	EFO	experimental factor	childhood trauma measurement
EFO:0007980	\N	\N	"quantification of the flow of blood through vessels in the brain, including flow rate and flow velocity through the vessel. Cerebral blood flow can be assessed using magnetic resonance imaging." []	EFO:0007980	"quantification of the flow of blood through vessels in the brain, including flow rate and flow velocity through the vessel. Cerebral blood flow can be assessed using magnetic resonance imaging." []	69216	\N	\N	EFO	0	EFO	cerebral blood flow measurement	cerebral blood flow measurement
EFO:0004464	EFO:0007980	\N	"" []	EFO:0007980	"quantification of the flow of blood through vessels in the brain, including flow rate and flow velocity through the vessel. Cerebral blood flow can be assessed using magnetic resonance imaging." []	211356	\N	\N	EFO	1	EFO	brain measurement	cerebral blood flow measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007980	"quantification of the flow of blood through vessels in the brain, including flow rate and flow velocity through the vessel. Cerebral blood flow can be assessed using magnetic resonance imaging." []	564617	\N	\N	EFO	2	EFO	measurement	cerebral blood flow measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007980	"quantification of the flow of blood through vessels in the brain, including flow rate and flow velocity through the vessel. Cerebral blood flow can be assessed using magnetic resonance imaging." []	1145791	\N	\N	EFO	3	EFO	information entity	cerebral blood flow measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007980	"quantification of the flow of blood through vessels in the brain, including flow rate and flow velocity through the vessel. Cerebral blood flow can be assessed using magnetic resonance imaging." []	2028225	\N	\N	EFO	4	EFO	experimental factor	cerebral blood flow measurement
EFO:0007981	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thiazide stimulus. Thiazides are a class of diuretics used primarily to treat hypertension and edema." []	EFO:0007981	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thiazide stimulus. Thiazides are a class of diuretics used primarily to treat hypertension and edema." []	69217	\N	\N	EFO	0	EFO	response to thiazide	response to thiazide
GO:0036270	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a diuretic stimulus. A diuretic is an agent that promotes the excretion of urine through its effects on kidney function." [CHEBI:35498, GOC:hp]	EFO:0007981	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thiazide stimulus. Thiazides are a class of diuretics used primarily to treat hypertension and edema." []	194933	\N	gocheck_do_not_manually_annotate	EFO	0	EFO	response to diuretic	response to thiazide
EFO:0005405	EFO:0007981	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antihypertensive drug." []	EFO:0007981	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thiazide stimulus. Thiazides are a class of diuretics used primarily to treat hypertension and edema." []	211357	\N	\N	EFO	1	EFO	response to antihypertensive drug	response to thiazide
EFO:0007982	\N	\N	"mild neurocognitive disorder (MND) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains with at least mildly decreased everyday functioning" []	EFO:0007982	"mild neurocognitive disorder (MND) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains with at least mildly decreased everyday functioning" []	69218	\N	\N	EFO	0	EFO	mild neurocognitive disorder	mild neurocognitive disorder
EFO:0007948	EFO:0007982	\N	"HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overall\\nprevalence of HAND is 3050% among unselected HIV-infected\\npersons." []	EFO:0007982	"mild neurocognitive disorder (MND) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains with at least mildly decreased everyday functioning" []	211358	\N	\N	EFO	1	EFO	HIV-associated neurocognitive disorder	mild neurocognitive disorder
EFO:0006843	EFO:0007948	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0007982	"mild neurocognitive disorder (MND) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains with at least mildly decreased everyday functioning" []	564618	\N	\N	EFO	2	EFO	infectious disease biomarker	mild neurocognitive disorder
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007982	"mild neurocognitive disorder (MND) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains with at least mildly decreased everyday functioning" []	1145792	\N	\N	EFO	3	EFO	measurement	mild neurocognitive disorder
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007982	"mild neurocognitive disorder (MND) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains with at least mildly decreased everyday functioning" []	2028226	\N	\N	EFO	4	EFO	information entity	mild neurocognitive disorder
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007982	"mild neurocognitive disorder (MND) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains with at least mildly decreased everyday functioning" []	3179425	\N	\N	EFO	5	EFO	experimental factor	mild neurocognitive disorder
EFO:0007983	\N	\N	"asymptomatic neurocognitive impairment (ANI) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains but no decrease in everyday functioning" []	EFO:0007983	"asymptomatic neurocognitive impairment (ANI) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains but no decrease in everyday functioning" []	69219	\N	\N	EFO	0	EFO	asymptomatic neurocognitive impairment	asymptomatic neurocognitive impairment
EFO:0007948	EFO:0007983	\N	"HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overall\\nprevalence of HAND is 3050% among unselected HIV-infected\\npersons." []	EFO:0007983	"asymptomatic neurocognitive impairment (ANI) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains but no decrease in everyday functioning" []	211359	\N	\N	EFO	1	EFO	HIV-associated neurocognitive disorder	asymptomatic neurocognitive impairment
EFO:0006843	EFO:0007948	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0007983	"asymptomatic neurocognitive impairment (ANI) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains but no decrease in everyday functioning" []	564619	\N	\N	EFO	2	EFO	infectious disease biomarker	asymptomatic neurocognitive impairment
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007983	"asymptomatic neurocognitive impairment (ANI) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains but no decrease in everyday functioning" []	1145793	\N	\N	EFO	3	EFO	measurement	asymptomatic neurocognitive impairment
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007983	"asymptomatic neurocognitive impairment (ANI) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains but no decrease in everyday functioning" []	2028227	\N	\N	EFO	4	EFO	information entity	asymptomatic neurocognitive impairment
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007983	"asymptomatic neurocognitive impairment (ANI) is a mild form of HIV-associated neurocognitive disorder (HAND), defined as mild neuropsychological impairment in two or more domains but no decrease in everyday functioning" []	3179426	\N	\N	EFO	5	EFO	experimental factor	asymptomatic neurocognitive impairment
EFO:0007984	\N	\N	"Measure of variation in platelet size." []	EFO:0007984	"Measure of variation in platelet size." []	69220	\N	\N	EFO	0	EFO	platelet distribution width	platelet distribution width
EFO:0005036	EFO:0007984	\N	"A measurement quantifying some platelet" []	EFO:0007984	"Measure of variation in platelet size." []	211360	\N	\N	EFO	1	EFO	platelet measurement	platelet distribution width
EFO:0004503	EFO:0005036	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007984	"Measure of variation in platelet size." []	564620	\N	\N	EFO	2	EFO	hematological measurement	platelet distribution width
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007984	"Measure of variation in platelet size." []	1145794	\N	\N	EFO	3	EFO	measurement	platelet distribution width
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007984	"Measure of variation in platelet size." []	2028228	\N	\N	EFO	4	EFO	information entity	platelet distribution width
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007984	"Measure of variation in platelet size." []	3179427	\N	\N	EFO	5	EFO	experimental factor	platelet distribution width
EFO:0007985	\N	\N	"The proportion of blood volume that is occupied by platelets, expressed as a percentage. " []	EFO:0007985	"The proportion of blood volume that is occupied by platelets, expressed as a percentage. " []	69221	\N	\N	EFO	0	EFO	plateletcrit	plateletcrit
EFO:0005036	EFO:0007985	\N	"A measurement quantifying some platelet" []	EFO:0007985	"The proportion of blood volume that is occupied by platelets, expressed as a percentage. " []	211361	\N	\N	EFO	1	EFO	platelet measurement	plateletcrit
EFO:0004503	EFO:0005036	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007985	"The proportion of blood volume that is occupied by platelets, expressed as a percentage. " []	564621	\N	\N	EFO	2	EFO	hematological measurement	plateletcrit
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007985	"The proportion of blood volume that is occupied by platelets, expressed as a percentage. " []	1145795	\N	\N	EFO	3	EFO	measurement	plateletcrit
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007985	"The proportion of blood volume that is occupied by platelets, expressed as a percentage. " []	2028229	\N	\N	EFO	4	EFO	information entity	plateletcrit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007985	"The proportion of blood volume that is occupied by platelets, expressed as a percentage. " []	3179428	\N	\N	EFO	5	EFO	experimental factor	plateletcrit
EFO:0007986	\N	\N	"The number of reticulocytes per unit volume of blood. Reticulocytes are immature red blood cells and typically compose aoubt 1% of red blood cells in the human body." []	EFO:0007986	"The number of reticulocytes per unit volume of blood. Reticulocytes are immature red blood cells and typically compose aoubt 1% of red blood cells in the human body." []	69222	\N	\N	EFO	0	EFO	reticulocyte count	reticulocyte count
EFO:0004503	EFO:0007986	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007986	"The number of reticulocytes per unit volume of blood. Reticulocytes are immature red blood cells and typically compose aoubt 1% of red blood cells in the human body." []	211362	\N	\N	EFO	1	EFO	hematological measurement	reticulocyte count
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007986	"The number of reticulocytes per unit volume of blood. Reticulocytes are immature red blood cells and typically compose aoubt 1% of red blood cells in the human body." []	564622	\N	\N	EFO	2	EFO	measurement	reticulocyte count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007986	"The number of reticulocytes per unit volume of blood. Reticulocytes are immature red blood cells and typically compose aoubt 1% of red blood cells in the human body." []	1145796	\N	\N	EFO	3	EFO	information entity	reticulocyte count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007986	"The number of reticulocytes per unit volume of blood. Reticulocytes are immature red blood cells and typically compose aoubt 1% of red blood cells in the human body." []	2028230	\N	\N	EFO	4	EFO	experimental factor	reticulocyte count
EFO:0007987	\N	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007987	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	69223	\N	\N	EFO	0	EFO	granulocyte count	granulocyte count
EFO:0007988	EFO:0007987	\N	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007987	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	211363	\N	\N	EFO	1	EFO	myeloid white cell count	granulocyte count
EFO:0004308	EFO:0007988	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0007987	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	564623	\N	\N	EFO	2	EFO	leukocyte count	granulocyte count
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007987	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	1145797	\N	\N	EFO	3	EFO	hematological measurement	granulocyte count
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007987	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	2028231	\N	\N	EFO	4	EFO	measurement	granulocyte count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007987	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	3179429	\N	\N	EFO	5	EFO	information entity	granulocyte count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007987	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	4388769	\N	\N	EFO	6	EFO	experimental factor	granulocyte count
EFO:0007988	\N	\N	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007988	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	69224	\N	\N	EFO	0	EFO	myeloid white cell count	myeloid white cell count
EFO:0004308	EFO:0007988	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0007988	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	211364	\N	\N	EFO	1	EFO	leukocyte count	myeloid white cell count
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007988	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	564624	\N	\N	EFO	2	EFO	hematological measurement	myeloid white cell count
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007988	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	1145798	\N	\N	EFO	3	EFO	measurement	myeloid white cell count
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007988	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	2028232	\N	\N	EFO	4	EFO	information entity	myeloid white cell count
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007988	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	3179430	\N	\N	EFO	5	EFO	experimental factor	myeloid white cell count
EFO:0007989	\N	\N	"A calculated measurement in which the number of monocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	EFO:0007989	"A calculated measurement in which the number of monocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	69225	\N	\N	EFO	0	EFO	monocypte percentage of leukocytes	monocypte percentage of leukocytes
EFO:0005091	EFO:0007989	\N	"quantification of monocytes in the blood" []	EFO:0007989	"A calculated measurement in which the number of monocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	211365	\N	\N	EFO	1	EFO	monocyte count	monocypte percentage of leukocytes
EFO:0004308	EFO:0005091	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0007989	"A calculated measurement in which the number of monocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	564625	\N	\N	EFO	2	EFO	leukocyte count	monocypte percentage of leukocytes
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007989	"A calculated measurement in which the number of monocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	1145799	\N	\N	EFO	3	EFO	hematological measurement	monocypte percentage of leukocytes
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007989	"A calculated measurement in which the number of monocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	2028233	\N	\N	EFO	4	EFO	measurement	monocypte percentage of leukocytes
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007989	"A calculated measurement in which the number of monocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	3179431	\N	\N	EFO	5	EFO	information entity	monocypte percentage of leukocytes
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007989	"A calculated measurement in which the number of monocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	4388770	\N	\N	EFO	6	EFO	experimental factor	monocypte percentage of leukocytes
EFO:0007990	\N	\N	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." []	EFO:0007990	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." []	69226	\N	\N	EFO	0	EFO	neutrophil percentage of leukocytes	neutrophil percentage of leukocytes
EFO:0004833	EFO:0007990	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007990	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." []	211366	\N	\N	EFO	1	EFO	neutrophil count	neutrophil percentage of leukocytes
EFO:0007987	EFO:0004833	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007990	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." []	564626	\N	\N	EFO	2	EFO	granulocyte count	neutrophil percentage of leukocytes
EFO:0007988	EFO:0007987	\N	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007990	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." []	1145800	\N	\N	EFO	3	EFO	myeloid white cell count	neutrophil percentage of leukocytes
EFO:0004308	EFO:0007988	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0007990	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." []	2028234	\N	\N	EFO	4	EFO	leukocyte count	neutrophil percentage of leukocytes
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007990	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." []	3179432	\N	\N	EFO	5	EFO	hematological measurement	neutrophil percentage of leukocytes
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007990	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." []	4388771	\N	\N	EFO	6	EFO	measurement	neutrophil percentage of leukocytes
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007990	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." []	5408979	\N	\N	EFO	7	EFO	information entity	neutrophil percentage of leukocytes
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007990	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." []	6147538	\N	\N	EFO	8	EFO	experimental factor	neutrophil percentage of leukocytes
EFO:0007991	\N	\N	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes." []	EFO:0007991	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes." []	69227	\N	\N	EFO	0	EFO	eosinophil percentage of leukocytes	eosinophil percentage of leukocytes
EFO:0004842	EFO:0007991	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007991	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes." []	211367	\N	\N	EFO	1	EFO	eosinophil count	eosinophil percentage of leukocytes
EFO:0007987	EFO:0004842	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007991	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes." []	564627	\N	\N	EFO	2	EFO	granulocyte count	eosinophil percentage of leukocytes
EFO:0007988	EFO:0007987	\N	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007991	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes." []	1145801	\N	\N	EFO	3	EFO	myeloid white cell count	eosinophil percentage of leukocytes
EFO:0004308	EFO:0007988	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0007991	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes." []	2028235	\N	\N	EFO	4	EFO	leukocyte count	eosinophil percentage of leukocytes
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007991	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes." []	3179433	\N	\N	EFO	5	EFO	hematological measurement	eosinophil percentage of leukocytes
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007991	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes." []	4388772	\N	\N	EFO	6	EFO	measurement	eosinophil percentage of leukocytes
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007991	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes." []	5408980	\N	\N	EFO	7	EFO	information entity	eosinophil percentage of leukocytes
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007991	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes." []	6147539	\N	\N	EFO	8	EFO	experimental factor	eosinophil percentage of leukocytes
EFO:0007992	\N	\N	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." []	EFO:0007992	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." []	69228	\N	\N	EFO	0	EFO	basophil percentage of leukocytes	basophil percentage of leukocytes
EFO:0005090	EFO:0007992	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007992	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." []	211368	\N	\N	EFO	1	EFO	basophil count	basophil percentage of leukocytes
EFO:0004872	EFO:0005090	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0007992	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." []	564628	\N	\N	EFO	2	EFO	inflammatory biomarker measurement	basophil percentage of leukocytes
EFO:0007987	EFO:0005090	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007992	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." []	564629	\N	\N	EFO	2	EFO	granulocyte count	basophil percentage of leukocytes
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007992	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." []	1145802	\N	\N	EFO	3	EFO	measurement	basophil percentage of leukocytes
EFO:0007988	EFO:0007987	\N	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007992	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." []	1145803	\N	\N	EFO	3	EFO	myeloid white cell count	basophil percentage of leukocytes
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007992	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." []	5408981	\N	\N	EFO	7	EFO	information entity	basophil percentage of leukocytes
EFO:0004308	EFO:0007988	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0007992	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." []	2028237	\N	\N	EFO	4	EFO	leukocyte count	basophil percentage of leukocytes
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007992	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." []	5817376	\N	\N	EFO	8	EFO	experimental factor	basophil percentage of leukocytes
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007992	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." []	3179435	\N	\N	EFO	5	EFO	hematological measurement	basophil percentage of leukocytes
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007992	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes." []	4388773	\N	\N	EFO	6	EFO	measurement	basophil percentage of leukocytes
EFO:0007993	\N	\N	"A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	EFO:0007993	"A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	69229	\N	\N	EFO	0	EFO	lymphocyte percentage of leukocytes	lymphocyte percentage of leukocytes
EFO:0004587	EFO:0007993	\N	"A quantification of lymphocytes in blood." []	EFO:0007993	"A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	211369	\N	\N	EFO	1	EFO	lymphocyte count	lymphocyte percentage of leukocytes
EFO:0004308	EFO:0004587	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0007993	"A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	564630	\N	\N	EFO	2	EFO	leukocyte count	lymphocyte percentage of leukocytes
EFO:0006843	EFO:0004587	\N	"A quantification of some biomarker used in the diagnosis or management of infectious disease." []	EFO:0007993	"A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	564631	\N	\N	EFO	2	EFO	infectious disease biomarker	lymphocyte percentage of leukocytes
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007993	"A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	1145804	\N	\N	EFO	3	EFO	hematological measurement	lymphocyte percentage of leukocytes
EFO:0001444	EFO:0006843	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007993	"A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	1145805	\N	\N	EFO	3	EFO	measurement	lymphocyte percentage of leukocytes
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007993	"A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	2028238	\N	\N	EFO	4	EFO	measurement	lymphocyte percentage of leukocytes
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007993	"A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	3179436	\N	\N	EFO	5	EFO	information entity	lymphocyte percentage of leukocytes
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007993	"A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. " []	4132790	\N	\N	EFO	6	EFO	experimental factor	lymphocyte percentage of leukocytes
EFO:0007994	\N	\N	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	EFO:0007994	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	69230	\N	\N	EFO	0	EFO	neutrophil percentage of granulocytes	neutrophil percentage of granulocytes
EFO:0004833	EFO:0007994	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007994	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	211370	\N	\N	EFO	1	EFO	neutrophil count	neutrophil percentage of granulocytes
EFO:0007987	EFO:0004833	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007994	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	564632	\N	\N	EFO	2	EFO	granulocyte count	neutrophil percentage of granulocytes
EFO:0007988	EFO:0007987	\N	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007994	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	1145806	\N	\N	EFO	3	EFO	myeloid white cell count	neutrophil percentage of granulocytes
EFO:0004308	EFO:0007988	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0007994	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	2028240	\N	\N	EFO	4	EFO	leukocyte count	neutrophil percentage of granulocytes
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007994	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	3179438	\N	\N	EFO	5	EFO	hematological measurement	neutrophil percentage of granulocytes
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007994	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	4388774	\N	\N	EFO	6	EFO	measurement	neutrophil percentage of granulocytes
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007994	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	5408982	\N	\N	EFO	7	EFO	information entity	neutrophil percentage of granulocytes
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007994	"A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	6147540	\N	\N	EFO	8	EFO	experimental factor	neutrophil percentage of granulocytes
EFO:0007995	\N	\N	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	EFO:0007995	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	69231	\N	\N	EFO	0	EFO	basophil percentage of granulocytes	basophil percentage of granulocytes
EFO:0005090	EFO:0007995	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007995	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	211371	\N	\N	EFO	1	EFO	basophil count	basophil percentage of granulocytes
EFO:0004872	EFO:0005090	\N	"Is a quantification of any molecule involved in the process of inflammatory response." []	EFO:0007995	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	564633	\N	\N	EFO	2	EFO	inflammatory biomarker measurement	basophil percentage of granulocytes
EFO:0007987	EFO:0005090	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007995	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	564634	\N	\N	EFO	2	EFO	granulocyte count	basophil percentage of granulocytes
EFO:0001444	EFO:0004872	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007995	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	1145807	\N	\N	EFO	3	EFO	measurement	basophil percentage of granulocytes
EFO:0007988	EFO:0007987	\N	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007995	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	1145808	\N	\N	EFO	3	EFO	myeloid white cell count	basophil percentage of granulocytes
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007995	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	5408983	\N	\N	EFO	7	EFO	information entity	basophil percentage of granulocytes
EFO:0004308	EFO:0007988	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0007995	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	2028242	\N	\N	EFO	4	EFO	leukocyte count	basophil percentage of granulocytes
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007995	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	5817377	\N	\N	EFO	8	EFO	experimental factor	basophil percentage of granulocytes
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007995	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	3179440	\N	\N	EFO	5	EFO	hematological measurement	basophil percentage of granulocytes
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007995	"A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	4388775	\N	\N	EFO	6	EFO	measurement	basophil percentage of granulocytes
EFO:0007996	\N	\N	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	EFO:0007996	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	69232	\N	\N	EFO	0	EFO	eosinophil percentage of granulocytes	eosinophil percentage of granulocytes
EFO:0004842	EFO:0007996	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007996	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	211372	\N	\N	EFO	1	EFO	eosinophil count	eosinophil percentage of granulocytes
EFO:0007987	EFO:0004842	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007996	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	564635	\N	\N	EFO	2	EFO	granulocyte count	eosinophil percentage of granulocytes
EFO:0007988	EFO:0007987	\N	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007996	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	1145809	\N	\N	EFO	3	EFO	myeloid white cell count	eosinophil percentage of granulocytes
EFO:0004308	EFO:0007988	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0007996	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	2028243	\N	\N	EFO	4	EFO	leukocyte count	eosinophil percentage of granulocytes
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007996	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	3179441	\N	\N	EFO	5	EFO	hematological measurement	eosinophil percentage of granulocytes
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007996	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	4388776	\N	\N	EFO	6	EFO	measurement	eosinophil percentage of granulocytes
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007996	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	5408984	\N	\N	EFO	7	EFO	information entity	eosinophil percentage of granulocytes
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007996	"A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	6147541	\N	\N	EFO	8	EFO	experimental factor	eosinophil percentage of granulocytes
EFO:0007997	\N	\N	"A calculated measurement in which the number of granulocytes is divided by the number of all myeloid white cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	EFO:0007997	"A calculated measurement in which the number of granulocytes is divided by the number of all myeloid white cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	69233	\N	\N	EFO	0	EFO	granulocyte percentage of myeloid white cells	granulocyte percentage of myeloid white cells
EFO:0007987	EFO:0007997	\N	"The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007997	"A calculated measurement in which the number of granulocytes is divided by the number of all myeloid white cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	211373	\N	\N	EFO	1	EFO	granulocyte count	granulocyte percentage of myeloid white cells
EFO:0007988	EFO:0007987	\N	"The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter." []	EFO:0007997	"A calculated measurement in which the number of granulocytes is divided by the number of all myeloid white cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	564636	\N	\N	EFO	2	EFO	myeloid white cell count	granulocyte percentage of myeloid white cells
EFO:0004308	EFO:0007988	\N	"The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." []	EFO:0007997	"A calculated measurement in which the number of granulocytes is divided by the number of all myeloid white cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	1145810	\N	\N	EFO	3	EFO	leukocyte count	granulocyte percentage of myeloid white cells
EFO:0004503	EFO:0004308	\N	"A measurement quantifying some blood cell, or component." []	EFO:0007997	"A calculated measurement in which the number of granulocytes is divided by the number of all myeloid white cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	2028244	\N	\N	EFO	4	EFO	hematological measurement	granulocyte percentage of myeloid white cells
EFO:0001444	EFO:0004503	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007997	"A calculated measurement in which the number of granulocytes is divided by the number of all myeloid white cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	3179442	\N	\N	EFO	5	EFO	measurement	granulocyte percentage of myeloid white cells
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007997	"A calculated measurement in which the number of granulocytes is divided by the number of all myeloid white cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	4388777	\N	\N	EFO	6	EFO	information entity	granulocyte percentage of myeloid white cells
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007997	"A calculated measurement in which the number of granulocytes is divided by the number of all myeloid white cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage." []	5408985	\N	\N	EFO	7	EFO	experimental factor	granulocyte percentage of myeloid white cells
EFO:0007998	\N	\N	"quantification of some aspect of cognitive impairment such as its severity or rate of progression" []	EFO:0007998	"quantification of some aspect of cognitive impairment such as its severity or rate of progression" []	69234	\N	\N	EFO	0	EFO	cognitive impairment measurement	cognitive impairment measurement
EFO:0001444	EFO:0007998	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007998	"quantification of some aspect of cognitive impairment such as its severity or rate of progression" []	211374	\N	\N	EFO	1	EFO	measurement	cognitive impairment measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007998	"quantification of some aspect of cognitive impairment such as its severity or rate of progression" []	564637	\N	\N	EFO	2	EFO	information entity	cognitive impairment measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007998	"quantification of some aspect of cognitive impairment such as its severity or rate of progression" []	1145811	\N	\N	EFO	3	EFO	experimental factor	cognitive impairment measurement
EFO:0007999	\N	\N	"quantification of the force that can be exerted by the lower body" []	EFO:0007999	"quantification of the force that can be exerted by the lower body" []	69235	\N	\N	EFO	0	EFO	lower body strength measurement	lower body strength measurement
EFO:0004302	EFO:0007999	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0007999	"quantification of the force that can be exerted by the lower body" []	211375	\N	\N	EFO	1	EFO	anthropometric measurement	lower body strength measurement
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0007999	"quantification of the force that can be exerted by the lower body" []	564638	\N	\N	EFO	2	EFO	measurement	lower body strength measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0007999	"quantification of the force that can be exerted by the lower body" []	1145812	\N	\N	EFO	3	EFO	information entity	lower body strength measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0007999	"quantification of the force that can be exerted by the lower body" []	2028245	\N	\N	EFO	4	EFO	experimental factor	lower body strength measurement
EFO:0008000	\N	\N	"quantification of the time point at which insulin secretion is highest" []	EFO:0008000	"quantification of the time point at which insulin secretion is highest" []	69236	\N	\N	EFO	0	EFO	peak insulin response measurement	peak insulin response measurement
EFO:0004467	EFO:0008000	\N	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	EFO:0008000	"quantification of the time point at which insulin secretion is highest" []	211376	\N	\N	EFO	1	EFO	insulin measurement	peak insulin response measurement
EFO:0004730	EFO:0004467	\N	"" []	EFO:0008000	"quantification of the time point at which insulin secretion is highest" []	564639	\N	\N	EFO	2	EFO	hormone measurement	peak insulin response measurement
EFO:0004747	EFO:0004467	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008000	"quantification of the time point at which insulin secretion is highest" []	564640	\N	\N	EFO	2	EFO	protein measurement	peak insulin response measurement
EFO:0006842	EFO:0004467	\N	"" []	EFO:0008000	"quantification of the time point at which insulin secretion is highest" []	564641	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	peak insulin response measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008000	"quantification of the time point at which insulin secretion is highest" []	1145813	\N	\N	EFO	3	EFO	measurement	peak insulin response measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008000	"quantification of the time point at which insulin secretion is highest" []	1145814	\N	\N	EFO	3	EFO	measurement	peak insulin response measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008000	"quantification of the time point at which insulin secretion is highest" []	1145815	\N	\N	EFO	3	EFO	measurement	peak insulin response measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008000	"quantification of the time point at which insulin secretion is highest" []	2028246	\N	\N	EFO	4	EFO	information entity	peak insulin response measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008000	"quantification of the time point at which insulin secretion is highest" []	3179443	\N	\N	EFO	5	EFO	experimental factor	peak insulin response measurement
EFO:0008001	\N	\N	"quantification of the rate at which insulin is secreted, generally measured using proxy compounds such as serum C-peptide concentrations" []	EFO:0008001	"quantification of the rate at which insulin is secreted, generally measured using proxy compounds such as serum C-peptide concentrations" []	69237	\N	\N	EFO	0	EFO	insulin secretion rate measurement	insulin secretion rate measurement
EFO:0004467	EFO:0008001	\N	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	EFO:0008001	"quantification of the rate at which insulin is secreted, generally measured using proxy compounds such as serum C-peptide concentrations" []	211377	\N	\N	EFO	1	EFO	insulin measurement	insulin secretion rate measurement
EFO:0004730	EFO:0004467	\N	"" []	EFO:0008001	"quantification of the rate at which insulin is secreted, generally measured using proxy compounds such as serum C-peptide concentrations" []	564642	\N	\N	EFO	2	EFO	hormone measurement	insulin secretion rate measurement
EFO:0004747	EFO:0004467	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008001	"quantification of the rate at which insulin is secreted, generally measured using proxy compounds such as serum C-peptide concentrations" []	564643	\N	\N	EFO	2	EFO	protein measurement	insulin secretion rate measurement
EFO:0006842	EFO:0004467	\N	"" []	EFO:0008001	"quantification of the rate at which insulin is secreted, generally measured using proxy compounds such as serum C-peptide concentrations" []	564644	\N	\N	EFO	2	EFO	diabetes mellitus biomarker	insulin secretion rate measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008001	"quantification of the rate at which insulin is secreted, generally measured using proxy compounds such as serum C-peptide concentrations" []	1145816	\N	\N	EFO	3	EFO	measurement	insulin secretion rate measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008001	"quantification of the rate at which insulin is secreted, generally measured using proxy compounds such as serum C-peptide concentrations" []	1145817	\N	\N	EFO	3	EFO	measurement	insulin secretion rate measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008001	"quantification of the rate at which insulin is secreted, generally measured using proxy compounds such as serum C-peptide concentrations" []	1145818	\N	\N	EFO	3	EFO	measurement	insulin secretion rate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008001	"quantification of the rate at which insulin is secreted, generally measured using proxy compounds such as serum C-peptide concentrations" []	2028247	\N	\N	EFO	4	EFO	information entity	insulin secretion rate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008001	"quantification of the rate at which insulin is secreted, generally measured using proxy compounds such as serum C-peptide concentrations" []	3179444	\N	\N	EFO	5	EFO	experimental factor	insulin secretion rate measurement
EFO:0008002	\N	\N	"quantification of some aspect of physical activity such as frequency or intensity" []	EFO:0008002	"quantification of some aspect of physical activity such as frequency or intensity" []	69238	\N	\N	EFO	0	EFO	physical activity measurement	physical activity measurement
EFO:0001444	EFO:0008002	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008002	"quantification of some aspect of physical activity such as frequency or intensity" []	211378	\N	\N	EFO	1	EFO	measurement	physical activity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008002	"quantification of some aspect of physical activity such as frequency or intensity" []	564645	\N	\N	EFO	2	EFO	information entity	physical activity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008002	"quantification of some aspect of physical activity such as frequency or intensity" []	1145819	\N	\N	EFO	3	EFO	experimental factor	physical activity measurement
EFO:0008003	\N	\N	"quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbetas." []	EFO:0008003	"quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbetas." []	69239	\N	\N	EFO	0	EFO	heart rate variability measurement	heart rate variability measurement
EFO:0004326	EFO:0008003	\N	"The number of times theHEART VENTRICLEScontract per unit of time, usually per minute." []	EFO:0008003	"quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbetas." []	211379	\N	\N	EFO	1	EFO	heart rate	heart rate variability measurement
EFO:0004303	EFO:0004326	\N	"The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure." []	EFO:0008003	"quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbetas." []	564646	\N	\N	EFO	2	EFO	vital signs	heart rate variability measurement
EFO:0004311	EFO:0004326	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0008003	"quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbetas." []	564647	\N	\N	EFO	2	EFO	heart function measurement	heart rate variability measurement
EFO:0001444	EFO:0004303	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008003	"quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbetas." []	1145820	\N	\N	EFO	3	EFO	measurement	heart rate variability measurement
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0008003	"quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbetas." []	1145821	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	heart rate variability measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008003	"quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbetas." []	4388778	\N	\N	EFO	6	EFO	information entity	heart rate variability measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0008003	"quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbetas." []	2028249	\N	\N	EFO	4	EFO	cardiovascular measurement	heart rate variability measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008003	"quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbetas." []	5059381	\N	\N	EFO	7	EFO	experimental factor	heart rate variability measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008003	"quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbetas." []	3179446	\N	\N	EFO	5	EFO	measurement	heart rate variability measurement
EFO:0008004	\N	\N	"quantification of an individual's resting metabolic rate, the minimum amount of energy required to sustain life during a time period of steady resting conditions. RMR differs from BMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." []	EFO:0008004	"quantification of an individual's resting metabolic rate, the minimum amount of energy required to sustain life during a time period of steady resting conditions. RMR differs from BMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." []	69240	\N	\N	EFO	0	EFO	resting metabolic rate measurement	resting metabolic rate measurement
EFO:0005115	EFO:0008004	\N	"a quantification of metabolic rate" []	EFO:0008004	"quantification of an individual's resting metabolic rate, the minimum amount of energy required to sustain life during a time period of steady resting conditions. RMR differs from BMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." []	211380	\N	\N	EFO	1	EFO	metabolic rate measurement	resting metabolic rate measurement
EFO:0001444	EFO:0005115	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008004	"quantification of an individual's resting metabolic rate, the minimum amount of energy required to sustain life during a time period of steady resting conditions. RMR differs from BMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." []	564648	\N	\N	EFO	2	EFO	measurement	resting metabolic rate measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008004	"quantification of an individual's resting metabolic rate, the minimum amount of energy required to sustain life during a time period of steady resting conditions. RMR differs from BMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." []	1145822	\N	\N	EFO	3	EFO	information entity	resting metabolic rate measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008004	"quantification of an individual's resting metabolic rate, the minimum amount of energy required to sustain life during a time period of steady resting conditions. RMR differs from BMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations." []	2028250	\N	\N	EFO	4	EFO	experimental factor	resting metabolic rate measurement
EFO:0008005	\N	\N	"quantification of an individual's energy expenditure, generally considered to be the sum of internal heat produced and external work through physical activity" []	EFO:0008005	"quantification of an individual's energy expenditure, generally considered to be the sum of internal heat produced and external work through physical activity" []	69241	\N	\N	EFO	0	EFO	energy expenditure measurement	energy expenditure measurement
EFO:0001444	EFO:0008005	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008005	"quantification of an individual's energy expenditure, generally considered to be the sum of internal heat produced and external work through physical activity" []	211381	\N	\N	EFO	1	EFO	measurement	energy expenditure measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008005	"quantification of an individual's energy expenditure, generally considered to be the sum of internal heat produced and external work through physical activity" []	564649	\N	\N	EFO	2	EFO	information entity	energy expenditure measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008005	"quantification of an individual's energy expenditure, generally considered to be the sum of internal heat produced and external work through physical activity" []	1145823	\N	\N	EFO	3	EFO	experimental factor	energy expenditure measurement
EFO:0008006	\N	\N	"quantification of some aspect of skin aging such as wrinkling or photoaging. Skin aging can be assessed using teh 6-point Beagley and Gibson (BG6) microtopography scoring system of skin patterning regularity and complexity" []	EFO:0008006	"quantification of some aspect of skin aging such as wrinkling or photoaging. Skin aging can be assessed using teh 6-point Beagley and Gibson (BG6) microtopography scoring system of skin patterning regularity and complexity" []	69242	\N	\N	EFO	0	EFO	skin aging measurement	skin aging measurement
EFO:0001444	EFO:0008006	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008006	"quantification of some aspect of skin aging such as wrinkling or photoaging. Skin aging can be assessed using teh 6-point Beagley and Gibson (BG6) microtopography scoring system of skin patterning regularity and complexity" []	211382	\N	\N	EFO	1	EFO	measurement	skin aging measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008006	"quantification of some aspect of skin aging such as wrinkling or photoaging. Skin aging can be assessed using teh 6-point Beagley and Gibson (BG6) microtopography scoring system of skin patterning regularity and complexity" []	564650	\N	\N	EFO	2	EFO	information entity	skin aging measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008006	"quantification of some aspect of skin aging such as wrinkling or photoaging. Skin aging can be assessed using teh 6-point Beagley and Gibson (BG6) microtopography scoring system of skin patterning regularity and complexity" []	1145824	\N	\N	EFO	3	EFO	experimental factor	skin aging measurement
EFO:0008007	\N	\N	"The age of an individual at the time an assessment takes place" []	EFO:0008007	"The age of an individual at the time an assessment takes place" []	69243	\N	\N	EFO	0	EFO	age at assessment	age at assessment
EFO:0000246	EFO:0008007	\N	"A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting)." []	EFO:0008007	"The age of an individual at the time an assessment takes place" []	211383	\N	\N	EFO	1	EFO	age	age at assessment
EFO:0000719	EFO:0000246	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0008007	"The age of an individual at the time an assessment takes place" []	564651	\N	\N	EFO	2	EFO	temporal measurement	age at assessment
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008007	"The age of an individual at the time an assessment takes place" []	1145825	\N	\N	EFO	3	EFO	measurement	age at assessment
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008007	"The age of an individual at the time an assessment takes place" []	2028251	\N	\N	EFO	4	EFO	information entity	age at assessment
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008007	"The age of an individual at the time an assessment takes place" []	3179447	\N	\N	EFO	5	EFO	experimental factor	age at assessment
EFO:0008008	\N	\N	"Symptoms that result from pathologic processes affecting the urinary bladder and/or urethra. They include urinary frequency, nocturia; urgency, incomplete voiding, and urinary incontinence. They are often associated with overactive bladder; urinary incompetence; and interstitial cystitis. Lower urinary tract symptoms in males were traditionally called prostatism." []	EFO:0008008	"Symptoms that result from pathologic processes affecting the urinary bladder and/or urethra. They include urinary frequency, nocturia; urgency, incomplete voiding, and urinary incontinence. They are often associated with overactive bladder; urinary incompetence; and interstitial cystitis. Lower urinary tract symptoms in males were traditionally called prostatism." []	69244	\N	\N	EFO	0	EFO	lower urinary tract symptom	lower urinary tract symptom
EFO:0003765	EFO:0008008	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:0008008	"Symptoms that result from pathologic processes affecting the urinary bladder and/or urethra. They include urinary frequency, nocturia; urgency, incomplete voiding, and urinary incontinence. They are often associated with overactive bladder; urinary incompetence; and interstitial cystitis. Lower urinary tract symptoms in males were traditionally called prostatism." []	211384	\N	\N	EFO	1	EFO	sign or symptom	lower urinary tract symptom
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:0008008	"Symptoms that result from pathologic processes affecting the urinary bladder and/or urethra. They include urinary frequency, nocturia; urgency, incomplete voiding, and urinary incontinence. They are often associated with overactive bladder; urinary incompetence; and interstitial cystitis. Lower urinary tract symptoms in males were traditionally called prostatism." []	564652	\N	\N	EFO	2	EFO	phenotype	lower urinary tract symptom
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:0008008	"Symptoms that result from pathologic processes affecting the urinary bladder and/or urethra. They include urinary frequency, nocturia; urgency, incomplete voiding, and urinary incontinence. They are often associated with overactive bladder; urinary incompetence; and interstitial cystitis. Lower urinary tract symptoms in males were traditionally called prostatism." []	1145826	\N	\N	EFO	3	EFO	quality	lower urinary tract symptom
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:0008008	"Symptoms that result from pathologic processes affecting the urinary bladder and/or urethra. They include urinary frequency, nocturia; urgency, incomplete voiding, and urinary incontinence. They are often associated with overactive bladder; urinary incompetence; and interstitial cystitis. Lower urinary tract symptoms in males were traditionally called prostatism." []	2028252	\N	\N	EFO	4	EFO	material property	lower urinary tract symptom
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008008	"Symptoms that result from pathologic processes affecting the urinary bladder and/or urethra. They include urinary frequency, nocturia; urgency, incomplete voiding, and urinary incontinence. They are often associated with overactive bladder; urinary incompetence; and interstitial cystitis. Lower urinary tract symptoms in males were traditionally called prostatism." []	3179448	\N	\N	EFO	5	EFO	experimental factor	lower urinary tract symptom
EFO:0008009	\N	\N	"quantification of the amount of 1,5 anydroglucitol in a sample" []	EFO:0008009	"quantification of the amount of 1,5 anydroglucitol in a sample" []	69245	\N	\N	EFO	0	EFO	1,5 anhydroglucitol measurement	1,5 anhydroglucitol measurement
EFO:0001444	EFO:0008009	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008009	"quantification of the amount of 1,5 anydroglucitol in a sample" []	211385	\N	\N	EFO	1	EFO	measurement	1,5 anhydroglucitol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008009	"quantification of the amount of 1,5 anydroglucitol in a sample" []	564653	\N	\N	EFO	2	EFO	information entity	1,5 anhydroglucitol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008009	"quantification of the amount of 1,5 anydroglucitol in a sample" []	1145827	\N	\N	EFO	3	EFO	experimental factor	1,5 anhydroglucitol measurement
EFO:0008010	\N	\N	"quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample" []	EFO:0008010	"quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample" []	69246	\N	\N	EFO	0	EFO	[Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement	[Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement
EFO:0007937	EFO:0008010	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008010	"quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample" []	211386	\N	\N	EFO	1	EFO	blood protein measurement	[Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008010	"quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample" []	564654	\N	\N	EFO	2	EFO	protein measurement	[Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008010	"quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample" []	1145828	\N	\N	EFO	3	EFO	measurement	[Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008010	"quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample" []	2028253	\N	\N	EFO	4	EFO	information entity	[Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008010	"quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample" []	3179449	\N	\N	EFO	5	EFO	experimental factor	[Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement
EFO:0008011	\N	\N	"quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 13 in a sample" []	EFO:0008011	"quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 13 in a sample" []	69247	\N	\N	EFO	0	EFO	a disintegrin and metalloproteinase with thrombospondin motifs 13	a disintegrin and metalloproteinase with thrombospondin motifs 13
EFO:0007937	EFO:0008011	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008011	"quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 13 in a sample" []	211387	\N	\N	EFO	1	EFO	blood protein measurement	a disintegrin and metalloproteinase with thrombospondin motifs 13
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008011	"quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 13 in a sample" []	564655	\N	\N	EFO	2	EFO	protein measurement	a disintegrin and metalloproteinase with thrombospondin motifs 13
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008011	"quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 13 in a sample" []	1145829	\N	\N	EFO	3	EFO	measurement	a disintegrin and metalloproteinase with thrombospondin motifs 13
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008011	"quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 13 in a sample" []	2028254	\N	\N	EFO	4	EFO	information entity	a disintegrin and metalloproteinase with thrombospondin motifs 13
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008011	"quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 13 in a sample" []	3179450	\N	\N	EFO	5	EFO	experimental factor	a disintegrin and metalloproteinase with thrombospondin motifs 13
EFO:0008012	\N	\N	"quantification of the amount of Abelson tyrosine-protein kinase 2 in a sample" []	EFO:0008012	"quantification of the amount of Abelson tyrosine-protein kinase 2 in a sample" []	69248	\N	\N	EFO	0	EFO	Abelson tyrosine-protein kinase 2 measurement	Abelson tyrosine-protein kinase 2 measurement
EFO:0007937	EFO:0008012	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008012	"quantification of the amount of Abelson tyrosine-protein kinase 2 in a sample" []	211388	\N	\N	EFO	1	EFO	blood protein measurement	Abelson tyrosine-protein kinase 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008012	"quantification of the amount of Abelson tyrosine-protein kinase 2 in a sample" []	564656	\N	\N	EFO	2	EFO	protein measurement	Abelson tyrosine-protein kinase 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008012	"quantification of the amount of Abelson tyrosine-protein kinase 2 in a sample" []	1145830	\N	\N	EFO	3	EFO	measurement	Abelson tyrosine-protein kinase 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008012	"quantification of the amount of Abelson tyrosine-protein kinase 2 in a sample" []	2028255	\N	\N	EFO	4	EFO	information entity	Abelson tyrosine-protein kinase 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008012	"quantification of the amount of Abelson tyrosine-protein kinase 2 in a sample" []	3179451	\N	\N	EFO	5	EFO	experimental factor	Abelson tyrosine-protein kinase 2 measurement
EFO:0008013	\N	\N	"quantification of the amount of acid sphingomyelinase-like phosphodiesterase 3a in a sample" []	EFO:0008013	"quantification of the amount of acid sphingomyelinase-like phosphodiesterase 3a in a sample" []	69249	\N	\N	EFO	0	EFO	acid sphingomyelinase-like phosphodiesterase 3a measurement	acid sphingomyelinase-like phosphodiesterase 3a measurement
EFO:0007937	EFO:0008013	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008013	"quantification of the amount of acid sphingomyelinase-like phosphodiesterase 3a in a sample" []	211389	\N	\N	EFO	1	EFO	blood protein measurement	acid sphingomyelinase-like phosphodiesterase 3a measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008013	"quantification of the amount of acid sphingomyelinase-like phosphodiesterase 3a in a sample" []	564657	\N	\N	EFO	2	EFO	protein measurement	acid sphingomyelinase-like phosphodiesterase 3a measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008013	"quantification of the amount of acid sphingomyelinase-like phosphodiesterase 3a in a sample" []	1145831	\N	\N	EFO	3	EFO	measurement	acid sphingomyelinase-like phosphodiesterase 3a measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008013	"quantification of the amount of acid sphingomyelinase-like phosphodiesterase 3a in a sample" []	2028256	\N	\N	EFO	4	EFO	information entity	acid sphingomyelinase-like phosphodiesterase 3a measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008013	"quantification of the amount of acid sphingomyelinase-like phosphodiesterase 3a in a sample" []	3179452	\N	\N	EFO	5	EFO	experimental factor	acid sphingomyelinase-like phosphodiesterase 3a measurement
EFO:0008014	\N	\N	"quantification of the amount of ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 in a sample" []	EFO:0008014	"quantification of the amount of ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 in a sample" []	69250	\N	\N	EFO	0	EFO	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement
EFO:0007937	EFO:0008014	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008014	"quantification of the amount of ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 in a sample" []	211390	\N	\N	EFO	1	EFO	blood protein measurement	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008014	"quantification of the amount of ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 in a sample" []	564658	\N	\N	EFO	2	EFO	protein measurement	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008014	"quantification of the amount of ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 in a sample" []	1145832	\N	\N	EFO	3	EFO	measurement	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008014	"quantification of the amount of ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 in a sample" []	2028257	\N	\N	EFO	4	EFO	information entity	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008014	"quantification of the amount of ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 in a sample" []	3179453	\N	\N	EFO	5	EFO	experimental factor	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement
EFO:0008015	\N	\N	"quantification of the amount of afamin in a sample" []	EFO:0008015	"quantification of the amount of afamin in a sample" []	69251	\N	\N	EFO	0	EFO	afamin measurement	afamin measurement
EFO:0007937	EFO:0008015	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008015	"quantification of the amount of afamin in a sample" []	211391	\N	\N	EFO	1	EFO	blood protein measurement	afamin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008015	"quantification of the amount of afamin in a sample" []	564659	\N	\N	EFO	2	EFO	protein measurement	afamin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008015	"quantification of the amount of afamin in a sample" []	1145833	\N	\N	EFO	3	EFO	measurement	afamin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008015	"quantification of the amount of afamin in a sample" []	2028258	\N	\N	EFO	4	EFO	information entity	afamin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008015	"quantification of the amount of afamin in a sample" []	3179454	\N	\N	EFO	5	EFO	experimental factor	afamin measurement
EFO:0008016	\N	\N	"quantification of the amount of Agouti-related protein in a sample" []	EFO:0008016	"quantification of the amount of Agouti-related protein in a sample" []	69252	\N	\N	EFO	0	EFO	Agouti-related protein measurement	Agouti-related protein measurement
EFO:0007937	EFO:0008016	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008016	"quantification of the amount of Agouti-related protein in a sample" []	211392	\N	\N	EFO	1	EFO	blood protein measurement	Agouti-related protein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008016	"quantification of the amount of Agouti-related protein in a sample" []	564660	\N	\N	EFO	2	EFO	protein measurement	Agouti-related protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008016	"quantification of the amount of Agouti-related protein in a sample" []	1145834	\N	\N	EFO	3	EFO	measurement	Agouti-related protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008016	"quantification of the amount of Agouti-related protein in a sample" []	2028259	\N	\N	EFO	4	EFO	information entity	Agouti-related protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008016	"quantification of the amount of Agouti-related protein in a sample" []	3179455	\N	\N	EFO	5	EFO	experimental factor	Agouti-related protein measurement
EFO:0008017	\N	\N	"quantification of the amount of alcohol dehydrogenase [NADP+] in a sample" []	EFO:0008017	"quantification of the amount of alcohol dehydrogenase [NADP+] in a sample" []	69253	\N	\N	EFO	0	EFO	alcohol dehydrogenase [NADP+] measurement	alcohol dehydrogenase [NADP+] measurement
EFO:0007937	EFO:0008017	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008017	"quantification of the amount of alcohol dehydrogenase [NADP+] in a sample" []	211393	\N	\N	EFO	1	EFO	blood protein measurement	alcohol dehydrogenase [NADP+] measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008017	"quantification of the amount of alcohol dehydrogenase [NADP+] in a sample" []	564661	\N	\N	EFO	2	EFO	protein measurement	alcohol dehydrogenase [NADP+] measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008017	"quantification of the amount of alcohol dehydrogenase [NADP+] in a sample" []	1145835	\N	\N	EFO	3	EFO	measurement	alcohol dehydrogenase [NADP+] measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008017	"quantification of the amount of alcohol dehydrogenase [NADP+] in a sample" []	2028260	\N	\N	EFO	4	EFO	information entity	alcohol dehydrogenase [NADP+] measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008017	"quantification of the amount of alcohol dehydrogenase [NADP+] in a sample" []	3179456	\N	\N	EFO	5	EFO	experimental factor	alcohol dehydrogenase [NADP+] measurement
EFO:0008018	\N	\N	"quantification of the amount of alpha-1-antichymotrypsin complex in a sample" []	EFO:0008018	"quantification of the amount of alpha-1-antichymotrypsin complex in a sample" []	69254	\N	\N	EFO	0	EFO	alpha-1-antichymotrypsin complex measurement	alpha-1-antichymotrypsin complex measurement
EFO:0007937	EFO:0008018	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008018	"quantification of the amount of alpha-1-antichymotrypsin complex in a sample" []	211394	\N	\N	EFO	1	EFO	blood protein measurement	alpha-1-antichymotrypsin complex measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008018	"quantification of the amount of alpha-1-antichymotrypsin complex in a sample" []	564662	\N	\N	EFO	2	EFO	protein measurement	alpha-1-antichymotrypsin complex measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008018	"quantification of the amount of alpha-1-antichymotrypsin complex in a sample" []	1145836	\N	\N	EFO	3	EFO	measurement	alpha-1-antichymotrypsin complex measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008018	"quantification of the amount of alpha-1-antichymotrypsin complex in a sample" []	2028261	\N	\N	EFO	4	EFO	information entity	alpha-1-antichymotrypsin complex measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008018	"quantification of the amount of alpha-1-antichymotrypsin complex in a sample" []	3179457	\N	\N	EFO	5	EFO	experimental factor	alpha-1-antichymotrypsin complex measurement
EFO:0008019	\N	\N	"quantification of the amount of alpha-1-antichymotrypsin in a sample" []	EFO:0008019	"quantification of the amount of alpha-1-antichymotrypsin in a sample" []	69255	\N	\N	EFO	0	EFO	alpha-1-antichymotrypsin measurement	alpha-1-antichymotrypsin measurement
EFO:0007937	EFO:0008019	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008019	"quantification of the amount of alpha-1-antichymotrypsin in a sample" []	211395	\N	\N	EFO	1	EFO	blood protein measurement	alpha-1-antichymotrypsin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008019	"quantification of the amount of alpha-1-antichymotrypsin in a sample" []	564663	\N	\N	EFO	2	EFO	protein measurement	alpha-1-antichymotrypsin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008019	"quantification of the amount of alpha-1-antichymotrypsin in a sample" []	1145837	\N	\N	EFO	3	EFO	measurement	alpha-1-antichymotrypsin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008019	"quantification of the amount of alpha-1-antichymotrypsin in a sample" []	2028262	\N	\N	EFO	4	EFO	information entity	alpha-1-antichymotrypsin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008019	"quantification of the amount of alpha-1-antichymotrypsin in a sample" []	3179458	\N	\N	EFO	5	EFO	experimental factor	alpha-1-antichymotrypsin measurement
EFO:0008020	\N	\N	"quantification of the amount of alpha-2-HS-glycoprotein in a sample" []	EFO:0008020	"quantification of the amount of alpha-2-HS-glycoprotein in a sample" []	69256	\N	\N	EFO	0	EFO	alpha-2-HS-glycoprotein measurement	alpha-2-HS-glycoprotein measurement
EFO:0007937	EFO:0008020	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008020	"quantification of the amount of alpha-2-HS-glycoprotein in a sample" []	211396	\N	\N	EFO	1	EFO	blood protein measurement	alpha-2-HS-glycoprotein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008020	"quantification of the amount of alpha-2-HS-glycoprotein in a sample" []	564664	\N	\N	EFO	2	EFO	protein measurement	alpha-2-HS-glycoprotein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008020	"quantification of the amount of alpha-2-HS-glycoprotein in a sample" []	1145838	\N	\N	EFO	3	EFO	measurement	alpha-2-HS-glycoprotein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008020	"quantification of the amount of alpha-2-HS-glycoprotein in a sample" []	2028263	\N	\N	EFO	4	EFO	information entity	alpha-2-HS-glycoprotein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008020	"quantification of the amount of alpha-2-HS-glycoprotein in a sample" []	3179459	\N	\N	EFO	5	EFO	experimental factor	alpha-2-HS-glycoprotein measurement
EFO:0008021	\N	\N	"quantification of the amount of alpha-2-macroglobulin receptor-associated protein in a sample" []	EFO:0008021	"quantification of the amount of alpha-2-macroglobulin receptor-associated protein in a sample" []	69257	\N	\N	EFO	0	EFO	alpha-2-macroglobulin receptor-associated protein measurement	alpha-2-macroglobulin receptor-associated protein measurement
EFO:0007937	EFO:0008021	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008021	"quantification of the amount of alpha-2-macroglobulin receptor-associated protein in a sample" []	211397	\N	\N	EFO	1	EFO	blood protein measurement	alpha-2-macroglobulin receptor-associated protein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008021	"quantification of the amount of alpha-2-macroglobulin receptor-associated protein in a sample" []	564665	\N	\N	EFO	2	EFO	protein measurement	alpha-2-macroglobulin receptor-associated protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008021	"quantification of the amount of alpha-2-macroglobulin receptor-associated protein in a sample" []	1145839	\N	\N	EFO	3	EFO	measurement	alpha-2-macroglobulin receptor-associated protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008021	"quantification of the amount of alpha-2-macroglobulin receptor-associated protein in a sample" []	2028264	\N	\N	EFO	4	EFO	information entity	alpha-2-macroglobulin receptor-associated protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008021	"quantification of the amount of alpha-2-macroglobulin receptor-associated protein in a sample" []	3179460	\N	\N	EFO	5	EFO	experimental factor	alpha-2-macroglobulin receptor-associated protein measurement
EFO:0008022	\N	\N	"quantification of the amount of angiogenin in a sample" []	EFO:0008022	"quantification of the amount of angiogenin in a sample" []	69258	\N	\N	EFO	0	EFO	angiogenin measurement	angiogenin measurement
EFO:0007937	EFO:0008022	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008022	"quantification of the amount of angiogenin in a sample" []	211398	\N	\N	EFO	1	EFO	blood protein measurement	angiogenin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008022	"quantification of the amount of angiogenin in a sample" []	564666	\N	\N	EFO	2	EFO	protein measurement	angiogenin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008022	"quantification of the amount of angiogenin in a sample" []	1145840	\N	\N	EFO	3	EFO	measurement	angiogenin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008022	"quantification of the amount of angiogenin in a sample" []	2028265	\N	\N	EFO	4	EFO	information entity	angiogenin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008022	"quantification of the amount of angiogenin in a sample" []	3179461	\N	\N	EFO	5	EFO	experimental factor	angiogenin measurement
EFO:0008023	\N	\N	"quantification of the amount of angiopoietin-1 receptor, soluble in a sample" []	EFO:0008023	"quantification of the amount of angiopoietin-1 receptor, soluble in a sample" []	69259	\N	\N	EFO	0	EFO	angiopoietin-1 receptor, soluble measurement	angiopoietin-1 receptor, soluble measurement
EFO:0007937	EFO:0008023	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008023	"quantification of the amount of angiopoietin-1 receptor, soluble in a sample" []	211399	\N	\N	EFO	1	EFO	blood protein measurement	angiopoietin-1 receptor, soluble measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008023	"quantification of the amount of angiopoietin-1 receptor, soluble in a sample" []	564667	\N	\N	EFO	2	EFO	protein measurement	angiopoietin-1 receptor, soluble measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008023	"quantification of the amount of angiopoietin-1 receptor, soluble in a sample" []	1145841	\N	\N	EFO	3	EFO	measurement	angiopoietin-1 receptor, soluble measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008023	"quantification of the amount of angiopoietin-1 receptor, soluble in a sample" []	2028266	\N	\N	EFO	4	EFO	information entity	angiopoietin-1 receptor, soluble measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008023	"quantification of the amount of angiopoietin-1 receptor, soluble in a sample" []	3179462	\N	\N	EFO	5	EFO	experimental factor	angiopoietin-1 receptor, soluble measurement
EFO:0008024	\N	\N	"quantification of the amount of angiostatin in a sample" []	EFO:0008024	"quantification of the amount of angiostatin in a sample" []	69260	\N	\N	EFO	0	EFO	angiostatin measurement	angiostatin measurement
EFO:0007937	EFO:0008024	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008024	"quantification of the amount of angiostatin in a sample" []	211400	\N	\N	EFO	1	EFO	blood protein measurement	angiostatin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008024	"quantification of the amount of angiostatin in a sample" []	564668	\N	\N	EFO	2	EFO	protein measurement	angiostatin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008024	"quantification of the amount of angiostatin in a sample" []	1145842	\N	\N	EFO	3	EFO	measurement	angiostatin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008024	"quantification of the amount of angiostatin in a sample" []	2028267	\N	\N	EFO	4	EFO	information entity	angiostatin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008024	"quantification of the amount of angiostatin in a sample" []	3179463	\N	\N	EFO	5	EFO	experimental factor	angiostatin measurement
EFO:0008025	\N	\N	"quantification of the amount of angiotensinogen in a sample" []	EFO:0008025	"quantification of the amount of angiotensinogen in a sample" []	69261	\N	\N	EFO	0	EFO	angiotensinogen measurement	angiotensinogen measurement
EFO:0007937	EFO:0008025	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008025	"quantification of the amount of angiotensinogen in a sample" []	211401	\N	\N	EFO	1	EFO	blood protein measurement	angiotensinogen measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008025	"quantification of the amount of angiotensinogen in a sample" []	564669	\N	\N	EFO	2	EFO	protein measurement	angiotensinogen measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008025	"quantification of the amount of angiotensinogen in a sample" []	1145843	\N	\N	EFO	3	EFO	measurement	angiotensinogen measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008025	"quantification of the amount of angiotensinogen in a sample" []	2028268	\N	\N	EFO	4	EFO	information entity	angiotensinogen measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008025	"quantification of the amount of angiotensinogen in a sample" []	3179464	\N	\N	EFO	5	EFO	experimental factor	angiotensinogen measurement
EFO:0008026	\N	\N	"quantification of the amount of annexin A1 in a sample" []	EFO:0008026	"quantification of the amount of annexin A1 in a sample" []	69262	\N	\N	EFO	0	EFO	annexin A1 measurement	annexin A1 measurement
EFO:0007937	EFO:0008026	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008026	"quantification of the amount of annexin A1 in a sample" []	211402	\N	\N	EFO	1	EFO	blood protein measurement	annexin A1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008026	"quantification of the amount of annexin A1 in a sample" []	564670	\N	\N	EFO	2	EFO	protein measurement	annexin A1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008026	"quantification of the amount of annexin A1 in a sample" []	1145844	\N	\N	EFO	3	EFO	measurement	annexin A1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008026	"quantification of the amount of annexin A1 in a sample" []	2028269	\N	\N	EFO	4	EFO	information entity	annexin A1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008026	"quantification of the amount of annexin A1 in a sample" []	3179465	\N	\N	EFO	5	EFO	experimental factor	annexin A1 measurement
EFO:0008027	\N	\N	"quantification of the amount of annexin A2 in a sample" []	EFO:0008027	"quantification of the amount of annexin A2 in a sample" []	69263	\N	\N	EFO	0	EFO	annexin A2 measurement	annexin A2 measurement
EFO:0007937	EFO:0008027	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008027	"quantification of the amount of annexin A2 in a sample" []	211403	\N	\N	EFO	1	EFO	blood protein measurement	annexin A2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008027	"quantification of the amount of annexin A2 in a sample" []	564671	\N	\N	EFO	2	EFO	protein measurement	annexin A2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008027	"quantification of the amount of annexin A2 in a sample" []	1145845	\N	\N	EFO	3	EFO	measurement	annexin A2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008027	"quantification of the amount of annexin A2 in a sample" []	2028270	\N	\N	EFO	4	EFO	information entity	annexin A2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008027	"quantification of the amount of annexin A2 in a sample" []	3179466	\N	\N	EFO	5	EFO	experimental factor	annexin A2 measurement
EFO:0008028	\N	\N	"quantification of the amount of apolipoprotein E isoform E2 in a sample" []	EFO:0008028	"quantification of the amount of apolipoprotein E isoform E2 in a sample" []	69264	\N	\N	EFO	0	EFO	apolipoprotein E isoform E2 measurement	apolipoprotein E isoform E2 measurement
EFO:0007937	EFO:0008028	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008028	"quantification of the amount of apolipoprotein E isoform E2 in a sample" []	211404	\N	\N	EFO	1	EFO	blood protein measurement	apolipoprotein E isoform E2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008028	"quantification of the amount of apolipoprotein E isoform E2 in a sample" []	564672	\N	\N	EFO	2	EFO	protein measurement	apolipoprotein E isoform E2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008028	"quantification of the amount of apolipoprotein E isoform E2 in a sample" []	1145846	\N	\N	EFO	3	EFO	measurement	apolipoprotein E isoform E2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008028	"quantification of the amount of apolipoprotein E isoform E2 in a sample" []	2028271	\N	\N	EFO	4	EFO	information entity	apolipoprotein E isoform E2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008028	"quantification of the amount of apolipoprotein E isoform E2 in a sample" []	3179467	\N	\N	EFO	5	EFO	experimental factor	apolipoprotein E isoform E2 measurement
EFO:0008029	\N	\N	"quantification of the amount of apolipoprotein E in a sample" []	EFO:0008029	"quantification of the amount of apolipoprotein E in a sample" []	69265	\N	\N	EFO	0	EFO	apolipoprotein E measurement	apolipoprotein E measurement
EFO:0007937	EFO:0008029	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008029	"quantification of the amount of apolipoprotein E in a sample" []	211405	\N	\N	EFO	1	EFO	blood protein measurement	apolipoprotein E measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008029	"quantification of the amount of apolipoprotein E in a sample" []	564673	\N	\N	EFO	2	EFO	protein measurement	apolipoprotein E measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008029	"quantification of the amount of apolipoprotein E in a sample" []	1145847	\N	\N	EFO	3	EFO	measurement	apolipoprotein E measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008029	"quantification of the amount of apolipoprotein E in a sample" []	2028272	\N	\N	EFO	4	EFO	information entity	apolipoprotein E measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008029	"quantification of the amount of apolipoprotein E in a sample" []	3179468	\N	\N	EFO	5	EFO	experimental factor	apolipoprotein E measurement
EFO:0008030	\N	\N	"quantification of the amount of arylsulfatase B in a sample" []	EFO:0008030	"quantification of the amount of arylsulfatase B in a sample" []	69266	\N	\N	EFO	0	EFO	arylsulfatase B measurement	arylsulfatase B measurement
EFO:0007937	EFO:0008030	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008030	"quantification of the amount of arylsulfatase B in a sample" []	211406	\N	\N	EFO	1	EFO	blood protein measurement	arylsulfatase B measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008030	"quantification of the amount of arylsulfatase B in a sample" []	564674	\N	\N	EFO	2	EFO	protein measurement	arylsulfatase B measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008030	"quantification of the amount of arylsulfatase B in a sample" []	1145848	\N	\N	EFO	3	EFO	measurement	arylsulfatase B measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008030	"quantification of the amount of arylsulfatase B in a sample" []	2028273	\N	\N	EFO	4	EFO	information entity	arylsulfatase B measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008030	"quantification of the amount of arylsulfatase B in a sample" []	3179469	\N	\N	EFO	5	EFO	experimental factor	arylsulfatase B measurement
EFO:0008031	\N	\N	"quantification of the amount of aspartate aminotransferase, cytoplasmic in a sample" []	EFO:0008031	"quantification of the amount of aspartate aminotransferase, cytoplasmic in a sample" []	69267	\N	\N	EFO	0	EFO	aspartate aminotransferase, cytoplasmic measurement	aspartate aminotransferase, cytoplasmic measurement
EFO:0007937	EFO:0008031	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008031	"quantification of the amount of aspartate aminotransferase, cytoplasmic in a sample" []	211407	\N	\N	EFO	1	EFO	blood protein measurement	aspartate aminotransferase, cytoplasmic measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008031	"quantification of the amount of aspartate aminotransferase, cytoplasmic in a sample" []	564675	\N	\N	EFO	2	EFO	protein measurement	aspartate aminotransferase, cytoplasmic measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008031	"quantification of the amount of aspartate aminotransferase, cytoplasmic in a sample" []	1145849	\N	\N	EFO	3	EFO	measurement	aspartate aminotransferase, cytoplasmic measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008031	"quantification of the amount of aspartate aminotransferase, cytoplasmic in a sample" []	2028274	\N	\N	EFO	4	EFO	information entity	aspartate aminotransferase, cytoplasmic measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008031	"quantification of the amount of aspartate aminotransferase, cytoplasmic in a sample" []	3179470	\N	\N	EFO	5	EFO	experimental factor	aspartate aminotransferase, cytoplasmic measurement
EFO:0008032	\N	\N	"quantification of the amount of basal Cell Adhesion Molecule in a sample" []	EFO:0008032	"quantification of the amount of basal Cell Adhesion Molecule in a sample" []	69268	\N	\N	EFO	0	EFO	basal cell adhesion molecule measurement	basal cell adhesion molecule measurement
EFO:0007937	EFO:0008032	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008032	"quantification of the amount of basal Cell Adhesion Molecule in a sample" []	211408	\N	\N	EFO	1	EFO	blood protein measurement	basal cell adhesion molecule measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008032	"quantification of the amount of basal Cell Adhesion Molecule in a sample" []	564676	\N	\N	EFO	2	EFO	protein measurement	basal cell adhesion molecule measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008032	"quantification of the amount of basal Cell Adhesion Molecule in a sample" []	1145850	\N	\N	EFO	3	EFO	measurement	basal cell adhesion molecule measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008032	"quantification of the amount of basal Cell Adhesion Molecule in a sample" []	2028275	\N	\N	EFO	4	EFO	information entity	basal cell adhesion molecule measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008032	"quantification of the amount of basal Cell Adhesion Molecule in a sample" []	3179471	\N	\N	EFO	5	EFO	experimental factor	basal cell adhesion molecule measurement
EFO:0008033	\N	\N	"quantification of the amount of beta-Ala-His dipeptidase in a sample" []	EFO:0008033	"quantification of the amount of beta-Ala-His dipeptidase in a sample" []	69269	\N	\N	EFO	0	EFO	beta-Ala-His dipeptidase measurement	beta-Ala-His dipeptidase measurement
EFO:0007937	EFO:0008033	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008033	"quantification of the amount of beta-Ala-His dipeptidase in a sample" []	211409	\N	\N	EFO	1	EFO	blood protein measurement	beta-Ala-His dipeptidase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008033	"quantification of the amount of beta-Ala-His dipeptidase in a sample" []	564677	\N	\N	EFO	2	EFO	protein measurement	beta-Ala-His dipeptidase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008033	"quantification of the amount of beta-Ala-His dipeptidase in a sample" []	1145851	\N	\N	EFO	3	EFO	measurement	beta-Ala-His dipeptidase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008033	"quantification of the amount of beta-Ala-His dipeptidase in a sample" []	2028276	\N	\N	EFO	4	EFO	information entity	beta-Ala-His dipeptidase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008033	"quantification of the amount of beta-Ala-His dipeptidase in a sample" []	3179472	\N	\N	EFO	5	EFO	experimental factor	beta-Ala-His dipeptidase measurement
EFO:0008034	\N	\N	"quantification of the amount of beta-endorphin in a sample" []	EFO:0008034	"quantification of the amount of beta-endorphin in a sample" []	69270	\N	\N	EFO	0	EFO	beta-endorphin measurement	beta-endorphin measurement
EFO:0007937	EFO:0008034	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008034	"quantification of the amount of beta-endorphin in a sample" []	211410	\N	\N	EFO	1	EFO	blood protein measurement	beta-endorphin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008034	"quantification of the amount of beta-endorphin in a sample" []	564678	\N	\N	EFO	2	EFO	protein measurement	beta-endorphin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008034	"quantification of the amount of beta-endorphin in a sample" []	1145852	\N	\N	EFO	3	EFO	measurement	beta-endorphin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008034	"quantification of the amount of beta-endorphin in a sample" []	2028277	\N	\N	EFO	4	EFO	information entity	beta-endorphin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008034	"quantification of the amount of beta-endorphin in a sample" []	3179473	\N	\N	EFO	5	EFO	experimental factor	beta-endorphin measurement
EFO:0008035	\N	\N	"quantification of the amount of beta-nerve growth factor in a sample" []	EFO:0008035	"quantification of the amount of beta-nerve growth factor in a sample" []	69271	\N	\N	EFO	0	EFO	beta-nerve growth factor measurement	beta-nerve growth factor measurement
EFO:0007937	EFO:0008035	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008035	"quantification of the amount of beta-nerve growth factor in a sample" []	211411	\N	\N	EFO	1	EFO	blood protein measurement	beta-nerve growth factor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008035	"quantification of the amount of beta-nerve growth factor in a sample" []	564679	\N	\N	EFO	2	EFO	protein measurement	beta-nerve growth factor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008035	"quantification of the amount of beta-nerve growth factor in a sample" []	1145853	\N	\N	EFO	3	EFO	measurement	beta-nerve growth factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008035	"quantification of the amount of beta-nerve growth factor in a sample" []	2028278	\N	\N	EFO	4	EFO	information entity	beta-nerve growth factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008035	"quantification of the amount of beta-nerve growth factor in a sample" []	3179474	\N	\N	EFO	5	EFO	experimental factor	beta-nerve growth factor measurement
EFO:0008036	\N	\N	"fasting blood glucose measurement that has been adjusted for subjects' body mass index" []	EFO:0008036	"fasting blood glucose measurement that has been adjusted for subjects' body mass index" []	69272	\N	\N	EFO	0	EFO	BMI-adjusted fasting blood glucose measurement	BMI-adjusted fasting blood glucose measurement
EFO:0004465	EFO:0008036	\N	"An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating." []	EFO:0008036	"fasting blood glucose measurement that has been adjusted for subjects' body mass index" []	211412	\N	\N	EFO	1	EFO	fasting blood glucose measurement	BMI-adjusted fasting blood glucose measurement
EFO:0004468	EFO:0004465	\N	"Is any quantification of glucose." []	EFO:0008036	"fasting blood glucose measurement that has been adjusted for subjects' body mass index" []	564680	\N	\N	EFO	2	EFO	glucose measurement	BMI-adjusted fasting blood glucose measurement
EFO:0006842	EFO:0004468	\N	"" []	EFO:0008036	"fasting blood glucose measurement that has been adjusted for subjects' body mass index" []	1145854	\N	\N	EFO	3	EFO	diabetes mellitus biomarker	BMI-adjusted fasting blood glucose measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008036	"fasting blood glucose measurement that has been adjusted for subjects' body mass index" []	2028279	\N	\N	EFO	4	EFO	measurement	BMI-adjusted fasting blood glucose measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008036	"fasting blood glucose measurement that has been adjusted for subjects' body mass index" []	3179475	\N	\N	EFO	5	EFO	information entity	BMI-adjusted fasting blood glucose measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008036	"fasting blood glucose measurement that has been adjusted for subjects' body mass index" []	4388779	\N	\N	EFO	6	EFO	experimental factor	BMI-adjusted fasting blood glucose measurement
EFO:0008037	\N	\N	"fasting insulin measurement that has been adjusted for subjects' body mass index" []	EFO:0008037	"fasting insulin measurement that has been adjusted for subjects' body mass index" []	69273	\N	\N	EFO	0	EFO	BMI-adjusted fasting blood insulin measurement	BMI-adjusted fasting blood insulin measurement
EFO:0004466	EFO:0008037	\N	"A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted" []	EFO:0008037	"fasting insulin measurement that has been adjusted for subjects' body mass index" []	211413	\N	\N	EFO	1	EFO	fasting blood insulin measurement	BMI-adjusted fasting blood insulin measurement
EFO:0004467	EFO:0004466	\N	"An insulin measurement is a measure of insulin typically performed in the diagnosis of patients" []	EFO:0008037	"fasting insulin measurement that has been adjusted for subjects' body mass index" []	564681	\N	\N	EFO	2	EFO	insulin measurement	BMI-adjusted fasting blood insulin measurement
EFO:0004730	EFO:0004467	\N	"" []	EFO:0008037	"fasting insulin measurement that has been adjusted for subjects' body mass index" []	1145855	\N	\N	EFO	3	EFO	hormone measurement	BMI-adjusted fasting blood insulin measurement
EFO:0004747	EFO:0004467	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008037	"fasting insulin measurement that has been adjusted for subjects' body mass index" []	1145856	\N	\N	EFO	3	EFO	protein measurement	BMI-adjusted fasting blood insulin measurement
EFO:0006842	EFO:0004467	\N	"" []	EFO:0008037	"fasting insulin measurement that has been adjusted for subjects' body mass index" []	1145857	\N	\N	EFO	3	EFO	diabetes mellitus biomarker	BMI-adjusted fasting blood insulin measurement
EFO:0001444	EFO:0004730	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008037	"fasting insulin measurement that has been adjusted for subjects' body mass index" []	2028280	\N	\N	EFO	4	EFO	measurement	BMI-adjusted fasting blood insulin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008037	"fasting insulin measurement that has been adjusted for subjects' body mass index" []	2028281	\N	\N	EFO	4	EFO	measurement	BMI-adjusted fasting blood insulin measurement
EFO:0001444	EFO:0006842	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008037	"fasting insulin measurement that has been adjusted for subjects' body mass index" []	2028282	\N	\N	EFO	4	EFO	measurement	BMI-adjusted fasting blood insulin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008037	"fasting insulin measurement that has been adjusted for subjects' body mass index" []	3179476	\N	\N	EFO	5	EFO	information entity	BMI-adjusted fasting blood insulin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008037	"fasting insulin measurement that has been adjusted for subjects' body mass index" []	4388780	\N	\N	EFO	6	EFO	experimental factor	BMI-adjusted fasting blood insulin measurement
EFO:0008038	\N	\N	"hip bone size measurement that has been adjusted for subjects' body mass index" []	EFO:0008038	"hip bone size measurement that has been adjusted for subjects' body mass index" []	69274	\N	\N	EFO	0	EFO	BMI-adjusted hip bone size	BMI-adjusted hip bone size
EFO:0004844	EFO:0008038	\N	"Is a quantification of the size of a human hip bone." []	EFO:0008038	"hip bone size measurement that has been adjusted for subjects' body mass index" []	211414	\N	\N	EFO	1	EFO	hip bone size	BMI-adjusted hip bone size
EFO:0004324	EFO:0004844	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0008038	"hip bone size measurement that has been adjusted for subjects' body mass index" []	564682	\N	\N	EFO	2	EFO	body weights and measures	BMI-adjusted hip bone size
EFO:0004512	EFO:0004844	\N	"" []	EFO:0008038	"hip bone size measurement that has been adjusted for subjects' body mass index" []	564683	\N	\N	EFO	2	EFO	bone measurement	BMI-adjusted hip bone size
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0008038	"hip bone size measurement that has been adjusted for subjects' body mass index" []	1145858	\N	\N	EFO	3	EFO	anthropometric measurement	BMI-adjusted hip bone size
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008038	"hip bone size measurement that has been adjusted for subjects' body mass index" []	1145859	\N	\N	EFO	3	EFO	measurement	BMI-adjusted hip bone size
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008038	"hip bone size measurement that has been adjusted for subjects' body mass index" []	2028283	\N	\N	EFO	4	EFO	measurement	BMI-adjusted hip bone size
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008038	"hip bone size measurement that has been adjusted for subjects' body mass index" []	3179477	\N	\N	EFO	5	EFO	information entity	BMI-adjusted hip bone size
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008038	"hip bone size measurement that has been adjusted for subjects' body mass index" []	4132791	\N	\N	EFO	6	EFO	experimental factor	BMI-adjusted hip bone size
EFO:0008039	\N	\N	"hip circumference measurement  that has been adjusted for subjects' body mass index" []	EFO:0008039	"hip circumference measurement  that has been adjusted for subjects' body mass index" []	69275	\N	\N	EFO	0	EFO	BMI-adjusted hip circumference	BMI-adjusted hip circumference
EFO:0005093	EFO:0008039	\N	"circumferential measurement of the largest part of the hip" []	EFO:0008039	"hip circumference measurement  that has been adjusted for subjects' body mass index" []	211415	\N	\N	EFO	1	EFO	hip circumference	BMI-adjusted hip circumference
EFO:0004324	EFO:0005093	\N	"Measurements of the height, weight, length, area, etc., of the human and animal body or its parts." []	EFO:0008039	"hip circumference measurement  that has been adjusted for subjects' body mass index" []	564684	\N	\N	EFO	2	EFO	body weights and measures	BMI-adjusted hip circumference
EFO:0004512	EFO:0005093	\N	"" []	EFO:0008039	"hip circumference measurement  that has been adjusted for subjects' body mass index" []	564685	\N	\N	EFO	2	EFO	bone measurement	BMI-adjusted hip circumference
EFO:0004302	EFO:0004324	\N	"Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body." []	EFO:0008039	"hip circumference measurement  that has been adjusted for subjects' body mass index" []	1145860	\N	\N	EFO	3	EFO	anthropometric measurement	BMI-adjusted hip circumference
EFO:0001444	EFO:0004512	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008039	"hip circumference measurement  that has been adjusted for subjects' body mass index" []	1145861	\N	\N	EFO	3	EFO	measurement	BMI-adjusted hip circumference
EFO:0001444	EFO:0004302	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008039	"hip circumference measurement  that has been adjusted for subjects' body mass index" []	2028285	\N	\N	EFO	4	EFO	measurement	BMI-adjusted hip circumference
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008039	"hip circumference measurement  that has been adjusted for subjects' body mass index" []	3179479	\N	\N	EFO	5	EFO	information entity	BMI-adjusted hip circumference
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008039	"hip circumference measurement  that has been adjusted for subjects' body mass index" []	4132792	\N	\N	EFO	6	EFO	experimental factor	BMI-adjusted hip circumference
EFO:0008040	\N	\N	"quantification of the amount of breast cancer anti-estrogen resistance protein 3 in a sample" []	EFO:0008040	"quantification of the amount of breast cancer anti-estrogen resistance protein 3 in a sample" []	69276	\N	\N	EFO	0	EFO	breast cancer anti-estrogen resistance protein 3 measurement	breast cancer anti-estrogen resistance protein 3 measurement
EFO:0007937	EFO:0008040	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008040	"quantification of the amount of breast cancer anti-estrogen resistance protein 3 in a sample" []	211416	\N	\N	EFO	1	EFO	blood protein measurement	breast cancer anti-estrogen resistance protein 3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008040	"quantification of the amount of breast cancer anti-estrogen resistance protein 3 in a sample" []	564686	\N	\N	EFO	2	EFO	protein measurement	breast cancer anti-estrogen resistance protein 3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008040	"quantification of the amount of breast cancer anti-estrogen resistance protein 3 in a sample" []	1145862	\N	\N	EFO	3	EFO	measurement	breast cancer anti-estrogen resistance protein 3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008040	"quantification of the amount of breast cancer anti-estrogen resistance protein 3 in a sample" []	2028287	\N	\N	EFO	4	EFO	information entity	breast cancer anti-estrogen resistance protein 3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008040	"quantification of the amount of breast cancer anti-estrogen resistance protein 3 in a sample" []	3179481	\N	\N	EFO	5	EFO	experimental factor	breast cancer anti-estrogen resistance protein 3 measurement
EFO:0008041	\N	\N	"quantification of the amount of C-C motif chemokine 1 in a sample" []	EFO:0008041	"quantification of the amount of C-C motif chemokine 1 in a sample" []	69277	\N	\N	EFO	0	EFO	C-C motif chemokine 1 measurement	C-C motif chemokine 1 measurement
EFO:0007937	EFO:0008041	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008041	"quantification of the amount of C-C motif chemokine 1 in a sample" []	211417	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008041	"quantification of the amount of C-C motif chemokine 1 in a sample" []	564687	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008041	"quantification of the amount of C-C motif chemokine 1 in a sample" []	1145863	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008041	"quantification of the amount of C-C motif chemokine 1 in a sample" []	2028288	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008041	"quantification of the amount of C-C motif chemokine 1 in a sample" []	3179482	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 1 measurement
EFO:0008042	\N	\N	"quantification of the amount of C-C motif chemokine 14 in a sample" []	EFO:0008042	"quantification of the amount of C-C motif chemokine 14 in a sample" []	69278	\N	\N	EFO	0	EFO	C-C motif chemokine 14 measurement	C-C motif chemokine 14 measurement
EFO:0007937	EFO:0008042	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008042	"quantification of the amount of C-C motif chemokine 14 in a sample" []	211418	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 14 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008042	"quantification of the amount of C-C motif chemokine 14 in a sample" []	564688	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 14 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008042	"quantification of the amount of C-C motif chemokine 14 in a sample" []	1145864	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 14 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008042	"quantification of the amount of C-C motif chemokine 14 in a sample" []	2028289	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 14 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008042	"quantification of the amount of C-C motif chemokine 14 in a sample" []	3179483	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 14 measurement
EFO:0008043	\N	\N	"quantification of the amount of C-C motif chemokine 15 in a sample" []	EFO:0008043	"quantification of the amount of C-C motif chemokine 15 in a sample" []	69279	\N	\N	EFO	0	EFO	C-C motif chemokine 15 measurement	C-C motif chemokine 15 measurement
EFO:0007937	EFO:0008043	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008043	"quantification of the amount of C-C motif chemokine 15 in a sample" []	211419	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 15 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008043	"quantification of the amount of C-C motif chemokine 15 in a sample" []	564689	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 15 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008043	"quantification of the amount of C-C motif chemokine 15 in a sample" []	1145865	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 15 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008043	"quantification of the amount of C-C motif chemokine 15 in a sample" []	2028290	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 15 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008043	"quantification of the amount of C-C motif chemokine 15 in a sample" []	3179484	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 15 measurement
EFO:0008044	\N	\N	"quantification of the amount of C-C motif chemokine 16 in a sample" []	EFO:0008044	"quantification of the amount of C-C motif chemokine 16 in a sample" []	69280	\N	\N	EFO	0	EFO	C-C motif chemokine 16 measurement	C-C motif chemokine 16 measurement
EFO:0007937	EFO:0008044	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008044	"quantification of the amount of C-C motif chemokine 16 in a sample" []	211420	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 16 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008044	"quantification of the amount of C-C motif chemokine 16 in a sample" []	564690	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 16 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008044	"quantification of the amount of C-C motif chemokine 16 in a sample" []	1145866	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 16 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008044	"quantification of the amount of C-C motif chemokine 16 in a sample" []	2028291	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 16 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008044	"quantification of the amount of C-C motif chemokine 16 in a sample" []	3179485	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 16 measurement
EFO:0008045	\N	\N	"quantification of the amount of C-C motif chemokine 17 in a sample" []	EFO:0008045	"quantification of the amount of C-C motif chemokine 17 in a sample" []	69281	\N	\N	EFO	0	EFO	C-C motif chemokine 17 measurement	C-C motif chemokine 17 measurement
EFO:0007937	EFO:0008045	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008045	"quantification of the amount of C-C motif chemokine 17 in a sample" []	211421	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 17 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008045	"quantification of the amount of C-C motif chemokine 17 in a sample" []	564691	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 17 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008045	"quantification of the amount of C-C motif chemokine 17 in a sample" []	1145867	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 17 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008045	"quantification of the amount of C-C motif chemokine 17 in a sample" []	2028292	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 17 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008045	"quantification of the amount of C-C motif chemokine 17 in a sample" []	3179486	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 17 measurement
EFO:0008046	\N	\N	"quantification of the amount of C-C motif chemokine 18 in a sample" []	EFO:0008046	"quantification of the amount of C-C motif chemokine 18 in a sample" []	69282	\N	\N	EFO	0	EFO	C-C motif chemokine 18 measurement	C-C motif chemokine 18 measurement
EFO:0007937	EFO:0008046	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008046	"quantification of the amount of C-C motif chemokine 18 in a sample" []	211422	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 18 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008046	"quantification of the amount of C-C motif chemokine 18 in a sample" []	564692	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 18 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008046	"quantification of the amount of C-C motif chemokine 18 in a sample" []	1145868	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 18 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008046	"quantification of the amount of C-C motif chemokine 18 in a sample" []	2028293	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 18 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008046	"quantification of the amount of C-C motif chemokine 18 in a sample" []	3179487	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 18 measurement
EFO:0008047	\N	\N	"quantification of the amount of C-C motif chemokine 19 in a sample" []	EFO:0008047	"quantification of the amount of C-C motif chemokine 19 in a sample" []	69283	\N	\N	EFO	0	EFO	C-C motif chemokine 19 measurement	C-C motif chemokine 19 measurement
EFO:0007937	EFO:0008047	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008047	"quantification of the amount of C-C motif chemokine 19 in a sample" []	211423	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 19 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008047	"quantification of the amount of C-C motif chemokine 19 in a sample" []	564693	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 19 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008047	"quantification of the amount of C-C motif chemokine 19 in a sample" []	1145869	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 19 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008047	"quantification of the amount of C-C motif chemokine 19 in a sample" []	2028294	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 19 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008047	"quantification of the amount of C-C motif chemokine 19 in a sample" []	3179488	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 19 measurement
EFO:0008048	\N	\N	"quantification of the amount of C-C motif chemokine 21 in a sample" []	EFO:0008048	"quantification of the amount of C-C motif chemokine 21 in a sample" []	69284	\N	\N	EFO	0	EFO	C-C motif chemokine 21 measurement	C-C motif chemokine 21 measurement
EFO:0007937	EFO:0008048	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008048	"quantification of the amount of C-C motif chemokine 21 in a sample" []	211424	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 21 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008048	"quantification of the amount of C-C motif chemokine 21 in a sample" []	564694	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 21 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008048	"quantification of the amount of C-C motif chemokine 21 in a sample" []	1145870	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 21 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008048	"quantification of the amount of C-C motif chemokine 21 in a sample" []	2028295	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 21 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008048	"quantification of the amount of C-C motif chemokine 21 in a sample" []	3179489	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 21 measurement
EFO:0008049	\N	\N	"quantification of the amount of C-C motif chemokine 23 in a sample" []	EFO:0008049	"quantification of the amount of C-C motif chemokine 23 in a sample" []	69285	\N	\N	EFO	0	EFO	C-C motif chemokine 23 measurement	C-C motif chemokine 23 measurement
EFO:0007937	EFO:0008049	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008049	"quantification of the amount of C-C motif chemokine 23 in a sample" []	211425	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 23 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008049	"quantification of the amount of C-C motif chemokine 23 in a sample" []	564695	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 23 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008049	"quantification of the amount of C-C motif chemokine 23 in a sample" []	1145871	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 23 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008049	"quantification of the amount of C-C motif chemokine 23 in a sample" []	2028296	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 23 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008049	"quantification of the amount of C-C motif chemokine 23 in a sample" []	3179490	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 23 measurement
EFO:0008050	\N	\N	"quantification of the amount of C-C motif chemokine 25 in a sample" []	EFO:0008050	"quantification of the amount of C-C motif chemokine 25 in a sample" []	69286	\N	\N	EFO	0	EFO	C-C motif chemokine 25 measurement	C-C motif chemokine 25 measurement
EFO:0007937	EFO:0008050	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008050	"quantification of the amount of C-C motif chemokine 25 in a sample" []	211426	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 25 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008050	"quantification of the amount of C-C motif chemokine 25 in a sample" []	564696	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 25 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008050	"quantification of the amount of C-C motif chemokine 25 in a sample" []	1145872	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 25 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008050	"quantification of the amount of C-C motif chemokine 25 in a sample" []	2028297	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 25 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008050	"quantification of the amount of C-C motif chemokine 25 in a sample" []	3179491	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 25 measurement
EFO:0008051	\N	\N	"quantification of the amount of C-C motif chemokine 3 in a sample" []	EFO:0008051	"quantification of the amount of C-C motif chemokine 3 in a sample" []	69287	\N	\N	EFO	0	EFO	C-C motif chemokine 3 measurement	C-C motif chemokine 3 measurement
EFO:0007937	EFO:0008051	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008051	"quantification of the amount of C-C motif chemokine 3 in a sample" []	211427	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008051	"quantification of the amount of C-C motif chemokine 3 in a sample" []	564697	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008051	"quantification of the amount of C-C motif chemokine 3 in a sample" []	1145873	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008051	"quantification of the amount of C-C motif chemokine 3 in a sample" []	2028298	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008051	"quantification of the amount of C-C motif chemokine 3 in a sample" []	3179492	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 3 measurement
EFO:0008052	\N	\N	"quantification of the amount of C-C motif chemokine 3-like 1 in a sample" []	EFO:0008052	"quantification of the amount of C-C motif chemokine 3-like 1 in a sample" []	69288	\N	\N	EFO	0	EFO	C-C motif chemokine 3-like 1 measurement	C-C motif chemokine 3-like 1 measurement
EFO:0007937	EFO:0008052	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008052	"quantification of the amount of C-C motif chemokine 3-like 1 in a sample" []	211428	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 3-like 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008052	"quantification of the amount of C-C motif chemokine 3-like 1 in a sample" []	564698	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 3-like 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008052	"quantification of the amount of C-C motif chemokine 3-like 1 in a sample" []	1145874	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 3-like 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008052	"quantification of the amount of C-C motif chemokine 3-like 1 in a sample" []	2028299	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 3-like 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008052	"quantification of the amount of C-C motif chemokine 3-like 1 in a sample" []	3179493	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 3-like 1 measurement
EFO:0008053	\N	\N	"quantification of the amount of C-C motif chemokine 5 in a sample" []	EFO:0008053	"quantification of the amount of C-C motif chemokine 5 in a sample" []	69289	\N	\N	EFO	0	EFO	C-C motif chemokine 5 measurement	C-C motif chemokine 5 measurement
EFO:0007937	EFO:0008053	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008053	"quantification of the amount of C-C motif chemokine 5 in a sample" []	211429	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 5 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008053	"quantification of the amount of C-C motif chemokine 5 in a sample" []	564699	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 5 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008053	"quantification of the amount of C-C motif chemokine 5 in a sample" []	1145875	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 5 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008053	"quantification of the amount of C-C motif chemokine 5 in a sample" []	2028300	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 5 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008053	"quantification of the amount of C-C motif chemokine 5 in a sample" []	3179494	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 5 measurement
EFO:0008054	\N	\N	"quantification of the amount of C-C motif chemokine 7 in a sample" []	EFO:0008054	"quantification of the amount of C-C motif chemokine 7 in a sample" []	69290	\N	\N	EFO	0	EFO	C-C motif chemokine 7 measurement	C-C motif chemokine 7 measurement
EFO:0007937	EFO:0008054	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008054	"quantification of the amount of C-C motif chemokine 7 in a sample" []	211430	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 7 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008054	"quantification of the amount of C-C motif chemokine 7 in a sample" []	564700	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 7 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008054	"quantification of the amount of C-C motif chemokine 7 in a sample" []	1145876	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 7 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008054	"quantification of the amount of C-C motif chemokine 7 in a sample" []	2028301	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 7 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008054	"quantification of the amount of C-C motif chemokine 7 in a sample" []	3179495	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 7 measurement
EFO:0008055	\N	\N	"quantification of the amount of C-C motif chemokine 8 in a sample" []	EFO:0008055	"quantification of the amount of C-C motif chemokine 8 in a sample" []	69291	\N	\N	EFO	0	EFO	C-C motif chemokine 8 measurement	C-C motif chemokine 8 measurement
EFO:0007937	EFO:0008055	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008055	"quantification of the amount of C-C motif chemokine 8 in a sample" []	211431	\N	\N	EFO	1	EFO	blood protein measurement	C-C motif chemokine 8 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008055	"quantification of the amount of C-C motif chemokine 8 in a sample" []	564701	\N	\N	EFO	2	EFO	protein measurement	C-C motif chemokine 8 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008055	"quantification of the amount of C-C motif chemokine 8 in a sample" []	1145877	\N	\N	EFO	3	EFO	measurement	C-C motif chemokine 8 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008055	"quantification of the amount of C-C motif chemokine 8 in a sample" []	2028302	\N	\N	EFO	4	EFO	information entity	C-C motif chemokine 8 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008055	"quantification of the amount of C-C motif chemokine 8 in a sample" []	3179496	\N	\N	EFO	5	EFO	experimental factor	C-C motif chemokine 8 measurement
EFO:0008056	\N	\N	"quantification of the amount of C-X-C motif chemokine 10 in a sample" []	EFO:0008056	"quantification of the amount of C-X-C motif chemokine 10 in a sample" []	69292	\N	\N	EFO	0	EFO	C-X-C motif chemokine 10 measurement	C-X-C motif chemokine 10 measurement
EFO:0007937	EFO:0008056	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008056	"quantification of the amount of C-X-C motif chemokine 10 in a sample" []	211432	\N	\N	EFO	1	EFO	blood protein measurement	C-X-C motif chemokine 10 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008056	"quantification of the amount of C-X-C motif chemokine 10 in a sample" []	564702	\N	\N	EFO	2	EFO	protein measurement	C-X-C motif chemokine 10 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008056	"quantification of the amount of C-X-C motif chemokine 10 in a sample" []	1145878	\N	\N	EFO	3	EFO	measurement	C-X-C motif chemokine 10 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008056	"quantification of the amount of C-X-C motif chemokine 10 in a sample" []	2028303	\N	\N	EFO	4	EFO	information entity	C-X-C motif chemokine 10 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008056	"quantification of the amount of C-X-C motif chemokine 10 in a sample" []	3179497	\N	\N	EFO	5	EFO	experimental factor	C-X-C motif chemokine 10 measurement
EFO:0008057	\N	\N	"quantification of the amount of C-X-C motif chemokine 11 in a sample" []	EFO:0008057	"quantification of the amount of C-X-C motif chemokine 11 in a sample" []	69293	\N	\N	EFO	0	EFO	C-X-C motif chemokine 11 measurement	C-X-C motif chemokine 11 measurement
EFO:0007937	EFO:0008057	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008057	"quantification of the amount of C-X-C motif chemokine 11 in a sample" []	211433	\N	\N	EFO	1	EFO	blood protein measurement	C-X-C motif chemokine 11 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008057	"quantification of the amount of C-X-C motif chemokine 11 in a sample" []	564703	\N	\N	EFO	2	EFO	protein measurement	C-X-C motif chemokine 11 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008057	"quantification of the amount of C-X-C motif chemokine 11 in a sample" []	1145879	\N	\N	EFO	3	EFO	measurement	C-X-C motif chemokine 11 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008057	"quantification of the amount of C-X-C motif chemokine 11 in a sample" []	2028304	\N	\N	EFO	4	EFO	information entity	C-X-C motif chemokine 11 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008057	"quantification of the amount of C-X-C motif chemokine 11 in a sample" []	3179498	\N	\N	EFO	5	EFO	experimental factor	C-X-C motif chemokine 11 measurement
EFO:0008058	\N	\N	"quantification of the amount of C-X-C motif chemokine 5 in a sample" []	EFO:0008058	"quantification of the amount of C-X-C motif chemokine 5 in a sample" []	69294	\N	\N	EFO	0	EFO	C-X-C motif chemokine 5 measurement	C-X-C motif chemokine 5 measurement
EFO:0007937	EFO:0008058	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008058	"quantification of the amount of C-X-C motif chemokine 5 in a sample" []	211434	\N	\N	EFO	1	EFO	blood protein measurement	C-X-C motif chemokine 5 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008058	"quantification of the amount of C-X-C motif chemokine 5 in a sample" []	564704	\N	\N	EFO	2	EFO	protein measurement	C-X-C motif chemokine 5 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008058	"quantification of the amount of C-X-C motif chemokine 5 in a sample" []	1145880	\N	\N	EFO	3	EFO	measurement	C-X-C motif chemokine 5 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008058	"quantification of the amount of C-X-C motif chemokine 5 in a sample" []	2028305	\N	\N	EFO	4	EFO	information entity	C-X-C motif chemokine 5 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008058	"quantification of the amount of C-X-C motif chemokine 5 in a sample" []	3179499	\N	\N	EFO	5	EFO	experimental factor	C-X-C motif chemokine 5 measurement
EFO:0008059	\N	\N	"quantification of the amount of C-X-C motif chemokine 6 in a sample" []	EFO:0008059	"quantification of the amount of C-X-C motif chemokine 6 in a sample" []	69295	\N	\N	EFO	0	EFO	C-X-C motif chemokine 6 measurement	C-X-C motif chemokine 6 measurement
EFO:0007937	EFO:0008059	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008059	"quantification of the amount of C-X-C motif chemokine 6 in a sample" []	211435	\N	\N	EFO	1	EFO	blood protein measurement	C-X-C motif chemokine 6 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008059	"quantification of the amount of C-X-C motif chemokine 6 in a sample" []	564705	\N	\N	EFO	2	EFO	protein measurement	C-X-C motif chemokine 6 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008059	"quantification of the amount of C-X-C motif chemokine 6 in a sample" []	1145881	\N	\N	EFO	3	EFO	measurement	C-X-C motif chemokine 6 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008059	"quantification of the amount of C-X-C motif chemokine 6 in a sample" []	2028306	\N	\N	EFO	4	EFO	information entity	C-X-C motif chemokine 6 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008059	"quantification of the amount of C-X-C motif chemokine 6 in a sample" []	3179500	\N	\N	EFO	5	EFO	experimental factor	C-X-C motif chemokine 6 measurement
EFO:0008060	\N	\N	"quantification of the amount of cadherin-5 in a sample" []	EFO:0008060	"quantification of the amount of cadherin-5 in a sample" []	69296	\N	\N	EFO	0	EFO	cadherin-5 measurement	cadherin-5 measurement
EFO:0007937	EFO:0008060	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008060	"quantification of the amount of cadherin-5 in a sample" []	211436	\N	\N	EFO	1	EFO	blood protein measurement	cadherin-5 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008060	"quantification of the amount of cadherin-5 in a sample" []	564706	\N	\N	EFO	2	EFO	protein measurement	cadherin-5 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008060	"quantification of the amount of cadherin-5 in a sample" []	1145882	\N	\N	EFO	3	EFO	measurement	cadherin-5 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008060	"quantification of the amount of cadherin-5 in a sample" []	2028307	\N	\N	EFO	4	EFO	information entity	cadherin-5 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008060	"quantification of the amount of cadherin-5 in a sample" []	3179501	\N	\N	EFO	5	EFO	experimental factor	cadherin-5 measurement
EFO:0008061	\N	\N	"quantification of the amount of calcineurin in a sample" []	EFO:0008061	"quantification of the amount of calcineurin in a sample" []	69297	\N	\N	EFO	0	EFO	calcineurin measurement	calcineurin measurement
EFO:0007937	EFO:0008061	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008061	"quantification of the amount of calcineurin in a sample" []	211437	\N	\N	EFO	1	EFO	blood protein measurement	calcineurin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008061	"quantification of the amount of calcineurin in a sample" []	564707	\N	\N	EFO	2	EFO	protein measurement	calcineurin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008061	"quantification of the amount of calcineurin in a sample" []	1145883	\N	\N	EFO	3	EFO	measurement	calcineurin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008061	"quantification of the amount of calcineurin in a sample" []	2028308	\N	\N	EFO	4	EFO	information entity	calcineurin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008061	"quantification of the amount of calcineurin in a sample" []	3179502	\N	\N	EFO	5	EFO	experimental factor	calcineurin measurement
EFO:0008062	\N	\N	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1 in a sample" []	EFO:0008062	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1 in a sample" []	69298	\N	\N	EFO	0	EFO	calcium/calmodulin-dependent protein kinase type 1 measurement	calcium/calmodulin-dependent protein kinase type 1 measurement
EFO:0007937	EFO:0008062	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008062	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1 in a sample" []	211438	\N	\N	EFO	1	EFO	blood protein measurement	calcium/calmodulin-dependent protein kinase type 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008062	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1 in a sample" []	564708	\N	\N	EFO	2	EFO	protein measurement	calcium/calmodulin-dependent protein kinase type 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008062	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1 in a sample" []	1145884	\N	\N	EFO	3	EFO	measurement	calcium/calmodulin-dependent protein kinase type 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008062	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1 in a sample" []	2028309	\N	\N	EFO	4	EFO	information entity	calcium/calmodulin-dependent protein kinase type 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008062	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1 in a sample" []	3179503	\N	\N	EFO	5	EFO	experimental factor	calcium/calmodulin-dependent protein kinase type 1 measurement
EFO:0008063	\N	\N	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1D in a sample" []	EFO:0008063	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1D in a sample" []	69299	\N	\N	EFO	0	EFO	calcium/calmodulin-dependent protein kinase type 1D measurement	calcium/calmodulin-dependent protein kinase type 1D measurement
EFO:0007937	EFO:0008063	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008063	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1D in a sample" []	211439	\N	\N	EFO	1	EFO	blood protein measurement	calcium/calmodulin-dependent protein kinase type 1D measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008063	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1D in a sample" []	564709	\N	\N	EFO	2	EFO	protein measurement	calcium/calmodulin-dependent protein kinase type 1D measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008063	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1D in a sample" []	1145885	\N	\N	EFO	3	EFO	measurement	calcium/calmodulin-dependent protein kinase type 1D measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008063	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1D in a sample" []	2028310	\N	\N	EFO	4	EFO	information entity	calcium/calmodulin-dependent protein kinase type 1D measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008063	"quantification of the amount of calcium/calmodulin-dependent protein kinase type 1D in a sample" []	3179504	\N	\N	EFO	5	EFO	experimental factor	calcium/calmodulin-dependent protein kinase type 1D measurement
EFO:0008064	\N	\N	"quantification of the amount of calpain I in a sample" []	EFO:0008064	"quantification of the amount of calpain I in a sample" []	69300	\N	\N	EFO	0	EFO	calpain I measurement	calpain I measurement
EFO:0007937	EFO:0008064	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008064	"quantification of the amount of calpain I in a sample" []	211440	\N	\N	EFO	1	EFO	blood protein measurement	calpain I measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008064	"quantification of the amount of calpain I in a sample" []	564710	\N	\N	EFO	2	EFO	protein measurement	calpain I measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008064	"quantification of the amount of calpain I in a sample" []	1145886	\N	\N	EFO	3	EFO	measurement	calpain I measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008064	"quantification of the amount of calpain I in a sample" []	2028311	\N	\N	EFO	4	EFO	information entity	calpain I measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008064	"quantification of the amount of calpain I in a sample" []	3179505	\N	\N	EFO	5	EFO	experimental factor	calpain I measurement
EFO:0008065	\N	\N	"quantification of the amount of calpastatin in a sample" []	EFO:0008065	"quantification of the amount of calpastatin in a sample" []	69301	\N	\N	EFO	0	EFO	calpastatin measurement	calpastatin measurement
EFO:0007937	EFO:0008065	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008065	"quantification of the amount of calpastatin in a sample" []	211441	\N	\N	EFO	1	EFO	blood protein measurement	calpastatin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008065	"quantification of the amount of calpastatin in a sample" []	564711	\N	\N	EFO	2	EFO	protein measurement	calpastatin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008065	"quantification of the amount of calpastatin in a sample" []	1145887	\N	\N	EFO	3	EFO	measurement	calpastatin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008065	"quantification of the amount of calpastatin in a sample" []	2028312	\N	\N	EFO	4	EFO	information entity	calpastatin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008065	"quantification of the amount of calpastatin in a sample" []	3179506	\N	\N	EFO	5	EFO	experimental factor	calpastatin measurement
EFO:0008066	\N	\N	"quantification of the amount of carbohydrate sulfotransferase 15 in a sample" []	EFO:0008066	"quantification of the amount of carbohydrate sulfotransferase 15 in a sample" []	69302	\N	\N	EFO	0	EFO	carbohydrate sulfotransferase 15 measurement	carbohydrate sulfotransferase 15 measurement
EFO:0007937	EFO:0008066	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008066	"quantification of the amount of carbohydrate sulfotransferase 15 in a sample" []	211442	\N	\N	EFO	1	EFO	blood protein measurement	carbohydrate sulfotransferase 15 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008066	"quantification of the amount of carbohydrate sulfotransferase 15 in a sample" []	564712	\N	\N	EFO	2	EFO	protein measurement	carbohydrate sulfotransferase 15 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008066	"quantification of the amount of carbohydrate sulfotransferase 15 in a sample" []	1145888	\N	\N	EFO	3	EFO	measurement	carbohydrate sulfotransferase 15 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008066	"quantification of the amount of carbohydrate sulfotransferase 15 in a sample" []	2028313	\N	\N	EFO	4	EFO	information entity	carbohydrate sulfotransferase 15 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008066	"quantification of the amount of carbohydrate sulfotransferase 15 in a sample" []	3179507	\N	\N	EFO	5	EFO	experimental factor	carbohydrate sulfotransferase 15 measurement
EFO:0008067	\N	\N	"quantification of the amount of carbonic anhydrase 13 in a sample" []	EFO:0008067	"quantification of the amount of carbonic anhydrase 13 in a sample" []	69303	\N	\N	EFO	0	EFO	carbonic anhydrase 13 measurement	carbonic anhydrase 13 measurement
EFO:0007937	EFO:0008067	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008067	"quantification of the amount of carbonic anhydrase 13 in a sample" []	211443	\N	\N	EFO	1	EFO	blood protein measurement	carbonic anhydrase 13 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008067	"quantification of the amount of carbonic anhydrase 13 in a sample" []	564713	\N	\N	EFO	2	EFO	protein measurement	carbonic anhydrase 13 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008067	"quantification of the amount of carbonic anhydrase 13 in a sample" []	1145889	\N	\N	EFO	3	EFO	measurement	carbonic anhydrase 13 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008067	"quantification of the amount of carbonic anhydrase 13 in a sample" []	2028314	\N	\N	EFO	4	EFO	information entity	carbonic anhydrase 13 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008067	"quantification of the amount of carbonic anhydrase 13 in a sample" []	3179508	\N	\N	EFO	5	EFO	experimental factor	carbonic anhydrase 13 measurement
EFO:0008068	\N	\N	"quantification of the amount of carbonic anhydrase 6 in a sample" []	EFO:0008068	"quantification of the amount of carbonic anhydrase 6 in a sample" []	69304	\N	\N	EFO	0	EFO	carbonic anhydrase 6 measurement	carbonic anhydrase 6 measurement
EFO:0007937	EFO:0008068	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008068	"quantification of the amount of carbonic anhydrase 6 in a sample" []	211444	\N	\N	EFO	1	EFO	blood protein measurement	carbonic anhydrase 6 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008068	"quantification of the amount of carbonic anhydrase 6 in a sample" []	564714	\N	\N	EFO	2	EFO	protein measurement	carbonic anhydrase 6 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008068	"quantification of the amount of carbonic anhydrase 6 in a sample" []	1145890	\N	\N	EFO	3	EFO	measurement	carbonic anhydrase 6 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008068	"quantification of the amount of carbonic anhydrase 6 in a sample" []	2028315	\N	\N	EFO	4	EFO	information entity	carbonic anhydrase 6 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008068	"quantification of the amount of carbonic anhydrase 6 in a sample" []	3179509	\N	\N	EFO	5	EFO	experimental factor	carbonic anhydrase 6 measurement
EFO:0008069	\N	\N	"quantification of the amount of carboxypeptidase B2 in a sample" []	EFO:0008069	"quantification of the amount of carboxypeptidase B2 in a sample" []	69305	\N	\N	EFO	0	EFO	carboxypeptidase B2 measurement	carboxypeptidase B2 measurement
EFO:0007937	EFO:0008069	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008069	"quantification of the amount of carboxypeptidase B2 in a sample" []	211445	\N	\N	EFO	1	EFO	blood protein measurement	carboxypeptidase B2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008069	"quantification of the amount of carboxypeptidase B2 in a sample" []	564715	\N	\N	EFO	2	EFO	protein measurement	carboxypeptidase B2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008069	"quantification of the amount of carboxypeptidase B2 in a sample" []	1145891	\N	\N	EFO	3	EFO	measurement	carboxypeptidase B2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008069	"quantification of the amount of carboxypeptidase B2 in a sample" []	2028316	\N	\N	EFO	4	EFO	information entity	carboxypeptidase B2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008069	"quantification of the amount of carboxypeptidase B2 in a sample" []	3179510	\N	\N	EFO	5	EFO	experimental factor	carboxypeptidase B2 measurement
EFO:0008070	\N	\N	"quantification of the amount of caspase-3 in a sample" []	EFO:0008070	"quantification of the amount of caspase-3 in a sample" []	69306	\N	\N	EFO	0	EFO	caspase-3 measurement	caspase-3 measurement
EFO:0007937	EFO:0008070	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008070	"quantification of the amount of caspase-3 in a sample" []	211446	\N	\N	EFO	1	EFO	blood protein measurement	caspase-3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008070	"quantification of the amount of caspase-3 in a sample" []	564716	\N	\N	EFO	2	EFO	protein measurement	caspase-3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008070	"quantification of the amount of caspase-3 in a sample" []	1145892	\N	\N	EFO	3	EFO	measurement	caspase-3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008070	"quantification of the amount of caspase-3 in a sample" []	2028317	\N	\N	EFO	4	EFO	information entity	caspase-3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008070	"quantification of the amount of caspase-3 in a sample" []	3179511	\N	\N	EFO	5	EFO	experimental factor	caspase-3 measurement
EFO:0008071	\N	\N	"quantification of the amount of catalase in a sample" []	EFO:0008071	"quantification of the amount of catalase in a sample" []	69307	\N	\N	EFO	0	EFO	catalase measurement	catalase measurement
EFO:0007937	EFO:0008071	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008071	"quantification of the amount of catalase in a sample" []	211447	\N	\N	EFO	1	EFO	blood protein measurement	catalase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008071	"quantification of the amount of catalase in a sample" []	564717	\N	\N	EFO	2	EFO	protein measurement	catalase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008071	"quantification of the amount of catalase in a sample" []	1145893	\N	\N	EFO	3	EFO	measurement	catalase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008071	"quantification of the amount of catalase in a sample" []	2028318	\N	\N	EFO	4	EFO	information entity	catalase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008071	"quantification of the amount of catalase in a sample" []	3179512	\N	\N	EFO	5	EFO	experimental factor	catalase measurement
EFO:0008072	\N	\N	"quantification of the amount of cathepsin B in a sample" []	EFO:0008072	"quantification of the amount of cathepsin B in a sample" []	69308	\N	\N	EFO	0	EFO	cathepsin B measurement	cathepsin B measurement
EFO:0007937	EFO:0008072	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008072	"quantification of the amount of cathepsin B in a sample" []	211448	\N	\N	EFO	1	EFO	blood protein measurement	cathepsin B measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008072	"quantification of the amount of cathepsin B in a sample" []	564718	\N	\N	EFO	2	EFO	protein measurement	cathepsin B measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008072	"quantification of the amount of cathepsin B in a sample" []	1145894	\N	\N	EFO	3	EFO	measurement	cathepsin B measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008072	"quantification of the amount of cathepsin B in a sample" []	2028319	\N	\N	EFO	4	EFO	information entity	cathepsin B measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008072	"quantification of the amount of cathepsin B in a sample" []	3179513	\N	\N	EFO	5	EFO	experimental factor	cathepsin B measurement
EFO:0008073	\N	\N	"quantification of the amount of cathepsin S in a sample" []	EFO:0008073	"quantification of the amount of cathepsin S in a sample" []	69309	\N	\N	EFO	0	EFO	cathepsin S measurement	cathepsin S measurement
EFO:0007937	EFO:0008073	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008073	"quantification of the amount of cathepsin S in a sample" []	211449	\N	\N	EFO	1	EFO	blood protein measurement	cathepsin S measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008073	"quantification of the amount of cathepsin S in a sample" []	564719	\N	\N	EFO	2	EFO	protein measurement	cathepsin S measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008073	"quantification of the amount of cathepsin S in a sample" []	1145895	\N	\N	EFO	3	EFO	measurement	cathepsin S measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008073	"quantification of the amount of cathepsin S in a sample" []	2028320	\N	\N	EFO	4	EFO	information entity	cathepsin S measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008073	"quantification of the amount of cathepsin S in a sample" []	3179514	\N	\N	EFO	5	EFO	experimental factor	cathepsin S measurement
EFO:0008074	\N	\N	"quantification of the amount of cathepsin Z in a sample" []	EFO:0008074	"quantification of the amount of cathepsin Z in a sample" []	69310	\N	\N	EFO	0	EFO	cathepsin Z measurement	cathepsin Z measurement
EFO:0007937	EFO:0008074	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008074	"quantification of the amount of cathepsin Z in a sample" []	211450	\N	\N	EFO	1	EFO	blood protein measurement	cathepsin Z measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008074	"quantification of the amount of cathepsin Z in a sample" []	564720	\N	\N	EFO	2	EFO	protein measurement	cathepsin Z measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008074	"quantification of the amount of cathepsin Z in a sample" []	1145896	\N	\N	EFO	3	EFO	measurement	cathepsin Z measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008074	"quantification of the amount of cathepsin Z in a sample" []	2028321	\N	\N	EFO	4	EFO	information entity	cathepsin Z measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008074	"quantification of the amount of cathepsin Z in a sample" []	3179515	\N	\N	EFO	5	EFO	experimental factor	cathepsin Z measurement
EFO:0008075	\N	\N	"quantification of the amount of cation-independent mannose-6-phosphate receptor in a sample" []	EFO:0008075	"quantification of the amount of cation-independent mannose-6-phosphate receptor in a sample" []	69311	\N	\N	EFO	0	EFO	cation-independent mannose-6-phosphate receptor measurement	cation-independent mannose-6-phosphate receptor measurement
EFO:0007937	EFO:0008075	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008075	"quantification of the amount of cation-independent mannose-6-phosphate receptor in a sample" []	211451	\N	\N	EFO	1	EFO	blood protein measurement	cation-independent mannose-6-phosphate receptor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008075	"quantification of the amount of cation-independent mannose-6-phosphate receptor in a sample" []	564721	\N	\N	EFO	2	EFO	protein measurement	cation-independent mannose-6-phosphate receptor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008075	"quantification of the amount of cation-independent mannose-6-phosphate receptor in a sample" []	1145897	\N	\N	EFO	3	EFO	measurement	cation-independent mannose-6-phosphate receptor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008075	"quantification of the amount of cation-independent mannose-6-phosphate receptor in a sample" []	2028322	\N	\N	EFO	4	EFO	information entity	cation-independent mannose-6-phosphate receptor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008075	"quantification of the amount of cation-independent mannose-6-phosphate receptor in a sample" []	3179516	\N	\N	EFO	5	EFO	experimental factor	cation-independent mannose-6-phosphate receptor measurement
EFO:0008076	\N	\N	"quantification of the amount of CD109 antigen in a sample" []	EFO:0008076	"quantification of the amount of CD109 antigen in a sample" []	69312	\N	\N	EFO	0	EFO	CD109 antigen measurement	CD109 antigen measurement
EFO:0007937	EFO:0008076	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008076	"quantification of the amount of CD109 antigen in a sample" []	211452	\N	\N	EFO	1	EFO	blood protein measurement	CD109 antigen measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008076	"quantification of the amount of CD109 antigen in a sample" []	564722	\N	\N	EFO	2	EFO	protein measurement	CD109 antigen measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008076	"quantification of the amount of CD109 antigen in a sample" []	1145898	\N	\N	EFO	3	EFO	measurement	CD109 antigen measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008076	"quantification of the amount of CD109 antigen in a sample" []	2028323	\N	\N	EFO	4	EFO	information entity	CD109 antigen measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008076	"quantification of the amount of CD109 antigen in a sample" []	3179517	\N	\N	EFO	5	EFO	experimental factor	CD109 antigen measurement
EFO:0008077	\N	\N	"quantification of the amount of CD209 antigen in a sample" []	EFO:0008077	"quantification of the amount of CD209 antigen in a sample" []	69313	\N	\N	EFO	0	EFO	CD209 antigen measurement	CD209 antigen measurement
EFO:0007937	EFO:0008077	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008077	"quantification of the amount of CD209 antigen in a sample" []	211453	\N	\N	EFO	1	EFO	blood protein measurement	CD209 antigen measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008077	"quantification of the amount of CD209 antigen in a sample" []	564723	\N	\N	EFO	2	EFO	protein measurement	CD209 antigen measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008077	"quantification of the amount of CD209 antigen in a sample" []	1145899	\N	\N	EFO	3	EFO	measurement	CD209 antigen measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008077	"quantification of the amount of CD209 antigen in a sample" []	2028324	\N	\N	EFO	4	EFO	information entity	CD209 antigen measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008077	"quantification of the amount of CD209 antigen in a sample" []	3179518	\N	\N	EFO	5	EFO	experimental factor	CD209 antigen measurement
EFO:0008078	\N	\N	"quantification of the amount of CD27 antigen in a sample" []	EFO:0008078	"quantification of the amount of CD27 antigen in a sample" []	69314	\N	\N	EFO	0	EFO	CD27 antigen measurement	CD27 antigen measurement
EFO:0007937	EFO:0008078	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008078	"quantification of the amount of CD27 antigen in a sample" []	211454	\N	\N	EFO	1	EFO	blood protein measurement	CD27 antigen measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008078	"quantification of the amount of CD27 antigen in a sample" []	564724	\N	\N	EFO	2	EFO	protein measurement	CD27 antigen measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008078	"quantification of the amount of CD27 antigen in a sample" []	1145900	\N	\N	EFO	3	EFO	measurement	CD27 antigen measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008078	"quantification of the amount of CD27 antigen in a sample" []	2028325	\N	\N	EFO	4	EFO	information entity	CD27 antigen measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008078	"quantification of the amount of CD27 antigen in a sample" []	3179519	\N	\N	EFO	5	EFO	experimental factor	CD27 antigen measurement
EFO:0008079	\N	\N	"quantification of the amount of cell adhesion molecule-related/down-regulated by oncogenes in a sample" []	EFO:0008079	"quantification of the amount of cell adhesion molecule-related/down-regulated by oncogenes in a sample" []	69315	\N	\N	EFO	0	EFO	cell adhesion molecule-related/down-regulated by oncogenes measurement	cell adhesion molecule-related/down-regulated by oncogenes measurement
EFO:0007937	EFO:0008079	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008079	"quantification of the amount of cell adhesion molecule-related/down-regulated by oncogenes in a sample" []	211455	\N	\N	EFO	1	EFO	blood protein measurement	cell adhesion molecule-related/down-regulated by oncogenes measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008079	"quantification of the amount of cell adhesion molecule-related/down-regulated by oncogenes in a sample" []	564725	\N	\N	EFO	2	EFO	protein measurement	cell adhesion molecule-related/down-regulated by oncogenes measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008079	"quantification of the amount of cell adhesion molecule-related/down-regulated by oncogenes in a sample" []	1145901	\N	\N	EFO	3	EFO	measurement	cell adhesion molecule-related/down-regulated by oncogenes measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008079	"quantification of the amount of cell adhesion molecule-related/down-regulated by oncogenes in a sample" []	2028326	\N	\N	EFO	4	EFO	information entity	cell adhesion molecule-related/down-regulated by oncogenes measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008079	"quantification of the amount of cell adhesion molecule-related/down-regulated by oncogenes in a sample" []	3179520	\N	\N	EFO	5	EFO	experimental factor	cell adhesion molecule-related/down-regulated by oncogenes measurement
EFO:0008080	\N	\N	"quantification of the volume of cerebrospinal fluid in the brain, usually through an MRI scan" []	EFO:0008080	"quantification of the volume of cerebrospinal fluid in the brain, usually through an MRI scan" []	69316	\N	\N	EFO	0	EFO	cerebrospinal fluid volume measurement	cerebrospinal fluid volume measurement
EFO:0006794	EFO:0008080	\N	"A cerebrospinal fluid biomarker measurement is a quantification in cerebrospinal fluid of some molecule e.g. protein or metabolite that acts as a biomarker for some disease, eg Alzheimer's disease" []	EFO:0008080	"quantification of the volume of cerebrospinal fluid in the brain, usually through an MRI scan" []	211456	\N	\N	EFO	1	EFO	cerebrospinal fluid biomarker measurement	cerebrospinal fluid volume measurement
EFO:0006930	EFO:0008080	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0008080	"quantification of the volume of cerebrospinal fluid in the brain, usually through an MRI scan" []	211457	\N	\N	EFO	1	EFO	brain volume measurement	cerebrospinal fluid volume measurement
EFO:0001444	EFO:0006794	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008080	"quantification of the volume of cerebrospinal fluid in the brain, usually through an MRI scan" []	564726	\N	\N	EFO	2	EFO	measurement	cerebrospinal fluid volume measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0008080	"quantification of the volume of cerebrospinal fluid in the brain, usually through an MRI scan" []	564727	\N	\N	EFO	2	EFO	brain measurement	cerebrospinal fluid volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008080	"quantification of the volume of cerebrospinal fluid in the brain, usually through an MRI scan" []	2028328	\N	\N	EFO	4	EFO	information entity	cerebrospinal fluid volume measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008080	"quantification of the volume of cerebrospinal fluid in the brain, usually through an MRI scan" []	1145903	\N	\N	EFO	3	EFO	measurement	cerebrospinal fluid volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008080	"quantification of the volume of cerebrospinal fluid in the brain, usually through an MRI scan" []	2999915	\N	\N	EFO	5	EFO	experimental factor	cerebrospinal fluid volume measurement
EFO:0008081	\N	\N	"quantification of the amount of cGMP-specific 3',5'-cyclic phosphodiesterase in a sample" []	EFO:0008081	"quantification of the amount of cGMP-specific 3',5'-cyclic phosphodiesterase in a sample" []	69317	\N	\N	EFO	0	EFO	cGMP-specific 3',5'-cyclic phosphodiesterase measurement	cGMP-specific 3',5'-cyclic phosphodiesterase measurement
EFO:0007937	EFO:0008081	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008081	"quantification of the amount of cGMP-specific 3',5'-cyclic phosphodiesterase in a sample" []	211458	\N	\N	EFO	1	EFO	blood protein measurement	cGMP-specific 3',5'-cyclic phosphodiesterase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008081	"quantification of the amount of cGMP-specific 3',5'-cyclic phosphodiesterase in a sample" []	564728	\N	\N	EFO	2	EFO	protein measurement	cGMP-specific 3',5'-cyclic phosphodiesterase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008081	"quantification of the amount of cGMP-specific 3',5'-cyclic phosphodiesterase in a sample" []	1145904	\N	\N	EFO	3	EFO	measurement	cGMP-specific 3',5'-cyclic phosphodiesterase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008081	"quantification of the amount of cGMP-specific 3',5'-cyclic phosphodiesterase in a sample" []	2028329	\N	\N	EFO	4	EFO	information entity	cGMP-specific 3',5'-cyclic phosphodiesterase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008081	"quantification of the amount of cGMP-specific 3',5'-cyclic phosphodiesterase in a sample" []	3179521	\N	\N	EFO	5	EFO	experimental factor	cGMP-specific 3',5'-cyclic phosphodiesterase measurement
EFO:0008082	\N	\N	"quantification of the amount of chemokine (C-C motif) ligand 27 in a sample" []	EFO:0008082	"quantification of the amount of chemokine (C-C motif) ligand 27 in a sample" []	69318	\N	\N	EFO	0	EFO	chemokine (C-C motif) ligand 27 measurement	chemokine (C-C motif) ligand 27 measurement
EFO:0007937	EFO:0008082	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008082	"quantification of the amount of chemokine (C-C motif) ligand 27 in a sample" []	211459	\N	\N	EFO	1	EFO	blood protein measurement	chemokine (C-C motif) ligand 27 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008082	"quantification of the amount of chemokine (C-C motif) ligand 27 in a sample" []	564729	\N	\N	EFO	2	EFO	protein measurement	chemokine (C-C motif) ligand 27 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008082	"quantification of the amount of chemokine (C-C motif) ligand 27 in a sample" []	1145905	\N	\N	EFO	3	EFO	measurement	chemokine (C-C motif) ligand 27 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008082	"quantification of the amount of chemokine (C-C motif) ligand 27 in a sample" []	2028330	\N	\N	EFO	4	EFO	information entity	chemokine (C-C motif) ligand 27 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008082	"quantification of the amount of chemokine (C-C motif) ligand 27 in a sample" []	3179522	\N	\N	EFO	5	EFO	experimental factor	chemokine (C-C motif) ligand 27 measurement
EFO:0008083	\N	\N	"quantification of the amount of chemokine (C-X-C motif) ligand 1 in a sample" []	EFO:0008083	"quantification of the amount of chemokine (C-X-C motif) ligand 1 in a sample" []	69319	\N	\N	EFO	0	EFO	chemokine (C-X-C motif) ligand 1 measurement	chemokine (C-X-C motif) ligand 1 measurement
EFO:0007937	EFO:0008083	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008083	"quantification of the amount of chemokine (C-X-C motif) ligand 1 in a sample" []	211460	\N	\N	EFO	1	EFO	blood protein measurement	chemokine (C-X-C motif) ligand 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008083	"quantification of the amount of chemokine (C-X-C motif) ligand 1 in a sample" []	564730	\N	\N	EFO	2	EFO	protein measurement	chemokine (C-X-C motif) ligand 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008083	"quantification of the amount of chemokine (C-X-C motif) ligand 1 in a sample" []	1145906	\N	\N	EFO	3	EFO	measurement	chemokine (C-X-C motif) ligand 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008083	"quantification of the amount of chemokine (C-X-C motif) ligand 1 in a sample" []	2028331	\N	\N	EFO	4	EFO	information entity	chemokine (C-X-C motif) ligand 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008083	"quantification of the amount of chemokine (C-X-C motif) ligand 1 in a sample" []	3179523	\N	\N	EFO	5	EFO	experimental factor	chemokine (C-X-C motif) ligand 1 measurement
EFO:0008084	\N	\N	"quantification of the amount of chitotriosidase-1 in a sample" []	EFO:0008084	"quantification of the amount of chitotriosidase-1 in a sample" []	69320	\N	\N	EFO	0	EFO	chitotriosidase-1 measurement	chitotriosidase-1 measurement
EFO:0007937	EFO:0008084	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008084	"quantification of the amount of chitotriosidase-1 in a sample" []	211461	\N	\N	EFO	1	EFO	blood protein measurement	chitotriosidase-1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008084	"quantification of the amount of chitotriosidase-1 in a sample" []	564731	\N	\N	EFO	2	EFO	protein measurement	chitotriosidase-1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008084	"quantification of the amount of chitotriosidase-1 in a sample" []	1145907	\N	\N	EFO	3	EFO	measurement	chitotriosidase-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008084	"quantification of the amount of chitotriosidase-1 in a sample" []	2028332	\N	\N	EFO	4	EFO	information entity	chitotriosidase-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008084	"quantification of the amount of chitotriosidase-1 in a sample" []	3179524	\N	\N	EFO	5	EFO	experimental factor	chitotriosidase-1 measurement
EFO:0008085	\N	\N	"quantification of the amount of Ck-beta-8-1 in a sample" []	EFO:0008085	"quantification of the amount of Ck-beta-8-1 in a sample" []	69321	\N	\N	EFO	0	EFO	Ck-beta-8-1 measurement	Ck-beta-8-1 measurement
EFO:0007937	EFO:0008085	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008085	"quantification of the amount of Ck-beta-8-1 in a sample" []	211462	\N	\N	EFO	1	EFO	blood protein measurement	Ck-beta-8-1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008085	"quantification of the amount of Ck-beta-8-1 in a sample" []	564732	\N	\N	EFO	2	EFO	protein measurement	Ck-beta-8-1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008085	"quantification of the amount of Ck-beta-8-1 in a sample" []	1145908	\N	\N	EFO	3	EFO	measurement	Ck-beta-8-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008085	"quantification of the amount of Ck-beta-8-1 in a sample" []	2028333	\N	\N	EFO	4	EFO	information entity	Ck-beta-8-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008085	"quantification of the amount of Ck-beta-8-1 in a sample" []	3179525	\N	\N	EFO	5	EFO	experimental factor	Ck-beta-8-1 measurement
EFO:0008086	\N	\N	"quantification of the amount of CMRF35-like molecule 6 in a sample" []	EFO:0008086	"quantification of the amount of CMRF35-like molecule 6 in a sample" []	69322	\N	\N	EFO	0	EFO	CMRF35-like molecule 6 measurement	CMRF35-like molecule 6 measurement
EFO:0007937	EFO:0008086	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008086	"quantification of the amount of CMRF35-like molecule 6 in a sample" []	211463	\N	\N	EFO	1	EFO	blood protein measurement	CMRF35-like molecule 6 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008086	"quantification of the amount of CMRF35-like molecule 6 in a sample" []	564733	\N	\N	EFO	2	EFO	protein measurement	CMRF35-like molecule 6 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008086	"quantification of the amount of CMRF35-like molecule 6 in a sample" []	1145909	\N	\N	EFO	3	EFO	measurement	CMRF35-like molecule 6 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008086	"quantification of the amount of CMRF35-like molecule 6 in a sample" []	2028334	\N	\N	EFO	4	EFO	information entity	CMRF35-like molecule 6 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008086	"quantification of the amount of CMRF35-like molecule 6 in a sample" []	3179526	\N	\N	EFO	5	EFO	experimental factor	CMRF35-like molecule 6 measurement
EFO:0008087	\N	\N	"quantification of the amount of coagulation Factor V in a sample" []	EFO:0008087	"quantification of the amount of coagulation Factor V in a sample" []	69323	\N	\N	EFO	0	EFO	coagulation factor V measurement	coagulation factor V measurement
EFO:0004634	EFO:0008087	\N	"A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage." []	EFO:0008087	"quantification of the amount of coagulation Factor V in a sample" []	211464	\N	\N	EFO	1	EFO	coagulation factor measurement	coagulation factor V measurement
EFO:0007937	EFO:0008087	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008087	"quantification of the amount of coagulation Factor V in a sample" []	211465	\N	\N	EFO	1	EFO	blood protein measurement	coagulation factor V measurement
EFO:0001444	EFO:0004634	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008087	"quantification of the amount of coagulation Factor V in a sample" []	564734	\N	\N	EFO	2	EFO	measurement	coagulation factor V measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008087	"quantification of the amount of coagulation Factor V in a sample" []	564735	\N	\N	EFO	2	EFO	protein measurement	coagulation factor V measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008087	"quantification of the amount of coagulation Factor V in a sample" []	2028336	\N	\N	EFO	4	EFO	information entity	coagulation factor V measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008087	"quantification of the amount of coagulation Factor V in a sample" []	1145911	\N	\N	EFO	3	EFO	measurement	coagulation factor V measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008087	"quantification of the amount of coagulation Factor V in a sample" []	2999916	\N	\N	EFO	5	EFO	experimental factor	coagulation factor V measurement
EFO:0008088	\N	\N	"quantification of the amount of collectin-11 in a sample" []	EFO:0008088	"quantification of the amount of collectin-11 in a sample" []	69324	\N	\N	EFO	0	EFO	collectin-11 measurement	collectin-11 measurement
EFO:0007937	EFO:0008088	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008088	"quantification of the amount of collectin-11 in a sample" []	211466	\N	\N	EFO	1	EFO	blood protein measurement	collectin-11 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008088	"quantification of the amount of collectin-11 in a sample" []	564736	\N	\N	EFO	2	EFO	protein measurement	collectin-11 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008088	"quantification of the amount of collectin-11 in a sample" []	1145912	\N	\N	EFO	3	EFO	measurement	collectin-11 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008088	"quantification of the amount of collectin-11 in a sample" []	2028337	\N	\N	EFO	4	EFO	information entity	collectin-11 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008088	"quantification of the amount of collectin-11 in a sample" []	3179527	\N	\N	EFO	5	EFO	experimental factor	collectin-11 measurement
EFO:0008089	\N	\N	"quantification of the amount of complement C1q subcomponent in a sample" []	EFO:0008089	"quantification of the amount of complement C1q subcomponent in a sample" []	69325	\N	\N	EFO	0	EFO	complement C1q subcomponent measurement	complement C1q subcomponent measurement
EFO:0007937	EFO:0008089	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008089	"quantification of the amount of complement C1q subcomponent in a sample" []	211467	\N	\N	EFO	1	EFO	blood protein measurement	complement C1q subcomponent measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008089	"quantification of the amount of complement C1q subcomponent in a sample" []	564737	\N	\N	EFO	2	EFO	protein measurement	complement C1q subcomponent measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008089	"quantification of the amount of complement C1q subcomponent in a sample" []	1145913	\N	\N	EFO	3	EFO	measurement	complement C1q subcomponent measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008089	"quantification of the amount of complement C1q subcomponent in a sample" []	2028338	\N	\N	EFO	4	EFO	information entity	complement C1q subcomponent measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008089	"quantification of the amount of complement C1q subcomponent in a sample" []	3179528	\N	\N	EFO	5	EFO	experimental factor	complement C1q subcomponent measurement
EFO:0008090	\N	\N	"quantification of the amount of complement C1r subcomponent in a sample" []	EFO:0008090	"quantification of the amount of complement C1r subcomponent in a sample" []	69326	\N	\N	EFO	0	EFO	complement C1r subcomponent measurement	complement C1r subcomponent measurement
EFO:0007937	EFO:0008090	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008090	"quantification of the amount of complement C1r subcomponent in a sample" []	211468	\N	\N	EFO	1	EFO	blood protein measurement	complement C1r subcomponent measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008090	"quantification of the amount of complement C1r subcomponent in a sample" []	564738	\N	\N	EFO	2	EFO	protein measurement	complement C1r subcomponent measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008090	"quantification of the amount of complement C1r subcomponent in a sample" []	1145914	\N	\N	EFO	3	EFO	measurement	complement C1r subcomponent measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008090	"quantification of the amount of complement C1r subcomponent in a sample" []	2028339	\N	\N	EFO	4	EFO	information entity	complement C1r subcomponent measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008090	"quantification of the amount of complement C1r subcomponent in a sample" []	3179529	\N	\N	EFO	5	EFO	experimental factor	complement C1r subcomponent measurement
EFO:0008091	\N	\N	"quantification of the amount of complement C1s subcomponent in a sample" []	EFO:0008091	"quantification of the amount of complement C1s subcomponent in a sample" []	69327	\N	\N	EFO	0	EFO	complement C1s subcomponent measurement	complement C1s subcomponent measurement
EFO:0007937	EFO:0008091	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008091	"quantification of the amount of complement C1s subcomponent in a sample" []	211469	\N	\N	EFO	1	EFO	blood protein measurement	complement C1s subcomponent measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008091	"quantification of the amount of complement C1s subcomponent in a sample" []	564739	\N	\N	EFO	2	EFO	protein measurement	complement C1s subcomponent measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008091	"quantification of the amount of complement C1s subcomponent in a sample" []	1145915	\N	\N	EFO	3	EFO	measurement	complement C1s subcomponent measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008091	"quantification of the amount of complement C1s subcomponent in a sample" []	2028340	\N	\N	EFO	4	EFO	information entity	complement C1s subcomponent measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008091	"quantification of the amount of complement C1s subcomponent in a sample" []	3179530	\N	\N	EFO	5	EFO	experimental factor	complement C1s subcomponent measurement
EFO:0008092	\N	\N	"quantification of the amount of complement C4b in a sample" []	EFO:0008092	"quantification of the amount of complement C4b in a sample" []	69328	\N	\N	EFO	0	EFO	complement C4b measurement	complement C4b measurement
EFO:0007937	EFO:0008092	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008092	"quantification of the amount of complement C4b in a sample" []	211470	\N	\N	EFO	1	EFO	blood protein measurement	complement C4b measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008092	"quantification of the amount of complement C4b in a sample" []	564740	\N	\N	EFO	2	EFO	protein measurement	complement C4b measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008092	"quantification of the amount of complement C4b in a sample" []	1145916	\N	\N	EFO	3	EFO	measurement	complement C4b measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008092	"quantification of the amount of complement C4b in a sample" []	2028341	\N	\N	EFO	4	EFO	information entity	complement C4b measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008092	"quantification of the amount of complement C4b in a sample" []	3179531	\N	\N	EFO	5	EFO	experimental factor	complement C4b measurement
EFO:0008093	\N	\N	"quantification of the amount of complement component C7 in a sample" []	EFO:0008093	"quantification of the amount of complement component C7 in a sample" []	69329	\N	\N	EFO	0	EFO	complement component C7 measurement	complement component C7 measurement
EFO:0007937	EFO:0008093	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008093	"quantification of the amount of complement component C7 in a sample" []	211471	\N	\N	EFO	1	EFO	blood protein measurement	complement component C7 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008093	"quantification of the amount of complement component C7 in a sample" []	564741	\N	\N	EFO	2	EFO	protein measurement	complement component C7 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008093	"quantification of the amount of complement component C7 in a sample" []	1145917	\N	\N	EFO	3	EFO	measurement	complement component C7 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008093	"quantification of the amount of complement component C7 in a sample" []	2028342	\N	\N	EFO	4	EFO	information entity	complement component C7 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008093	"quantification of the amount of complement component C7 in a sample" []	3179532	\N	\N	EFO	5	EFO	experimental factor	complement component C7 measurement
EFO:0008094	\N	\N	"quantification of the amount of complement component C8 in a sample" []	EFO:0008094	"quantification of the amount of complement component C8 in a sample" []	69330	\N	\N	EFO	0	EFO	complement component C8 measurement	complement component C8 measurement
EFO:0007937	EFO:0008094	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008094	"quantification of the amount of complement component C8 in a sample" []	211472	\N	\N	EFO	1	EFO	blood protein measurement	complement component C8 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008094	"quantification of the amount of complement component C8 in a sample" []	564742	\N	\N	EFO	2	EFO	protein measurement	complement component C8 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008094	"quantification of the amount of complement component C8 in a sample" []	1145918	\N	\N	EFO	3	EFO	measurement	complement component C8 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008094	"quantification of the amount of complement component C8 in a sample" []	2028343	\N	\N	EFO	4	EFO	information entity	complement component C8 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008094	"quantification of the amount of complement component C8 in a sample" []	3179533	\N	\N	EFO	5	EFO	experimental factor	complement component C8 measurement
EFO:0008095	\N	\N	"quantification of the amount of complement decay-accelerating factor in a sample" []	EFO:0008095	"quantification of the amount of complement decay-accelerating factor in a sample" []	69331	\N	\N	EFO	0	EFO	complement decay-accelerating factor measurement	complement decay-accelerating factor measurement
EFO:0007937	EFO:0008095	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008095	"quantification of the amount of complement decay-accelerating factor in a sample" []	211473	\N	\N	EFO	1	EFO	blood protein measurement	complement decay-accelerating factor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008095	"quantification of the amount of complement decay-accelerating factor in a sample" []	564743	\N	\N	EFO	2	EFO	protein measurement	complement decay-accelerating factor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008095	"quantification of the amount of complement decay-accelerating factor in a sample" []	1145919	\N	\N	EFO	3	EFO	measurement	complement decay-accelerating factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008095	"quantification of the amount of complement decay-accelerating factor in a sample" []	2028344	\N	\N	EFO	4	EFO	information entity	complement decay-accelerating factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008095	"quantification of the amount of complement decay-accelerating factor in a sample" []	3179534	\N	\N	EFO	5	EFO	experimental factor	complement decay-accelerating factor measurement
EFO:0008096	\N	\N	"quantification of the amount of complement factor B in a sample" []	EFO:0008096	"quantification of the amount of complement factor B in a sample" []	69332	\N	\N	EFO	0	EFO	complement factor B measurement	complement factor B measurement
EFO:0007937	EFO:0008096	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008096	"quantification of the amount of complement factor B in a sample" []	211474	\N	\N	EFO	1	EFO	blood protein measurement	complement factor B measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008096	"quantification of the amount of complement factor B in a sample" []	564744	\N	\N	EFO	2	EFO	protein measurement	complement factor B measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008096	"quantification of the amount of complement factor B in a sample" []	1145920	\N	\N	EFO	3	EFO	measurement	complement factor B measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008096	"quantification of the amount of complement factor B in a sample" []	2028345	\N	\N	EFO	4	EFO	information entity	complement factor B measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008096	"quantification of the amount of complement factor B in a sample" []	3179535	\N	\N	EFO	5	EFO	experimental factor	complement factor B measurement
EFO:0008097	\N	\N	"quantification of the amount of complement factor H in a sample" []	EFO:0008097	"quantification of the amount of complement factor H in a sample" []	69333	\N	\N	EFO	0	EFO	complement factor H measurement	complement factor H measurement
EFO:0007937	EFO:0008097	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008097	"quantification of the amount of complement factor H in a sample" []	211475	\N	\N	EFO	1	EFO	blood protein measurement	complement factor H measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008097	"quantification of the amount of complement factor H in a sample" []	564745	\N	\N	EFO	2	EFO	protein measurement	complement factor H measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008097	"quantification of the amount of complement factor H in a sample" []	1145921	\N	\N	EFO	3	EFO	measurement	complement factor H measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008097	"quantification of the amount of complement factor H in a sample" []	2028346	\N	\N	EFO	4	EFO	information entity	complement factor H measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008097	"quantification of the amount of complement factor H in a sample" []	3179536	\N	\N	EFO	5	EFO	experimental factor	complement factor H measurement
EFO:0008098	\N	\N	"quantification of the amount of complement factor H-related protein 5 in a sample" []	EFO:0008098	"quantification of the amount of complement factor H-related protein 5 in a sample" []	69334	\N	\N	EFO	0	EFO	complement factor H-related protein 5 measurement	complement factor H-related protein 5 measurement
EFO:0007937	EFO:0008098	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008098	"quantification of the amount of complement factor H-related protein 5 in a sample" []	211476	\N	\N	EFO	1	EFO	blood protein measurement	complement factor H-related protein 5 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008098	"quantification of the amount of complement factor H-related protein 5 in a sample" []	564746	\N	\N	EFO	2	EFO	protein measurement	complement factor H-related protein 5 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008098	"quantification of the amount of complement factor H-related protein 5 in a sample" []	1145922	\N	\N	EFO	3	EFO	measurement	complement factor H-related protein 5 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008098	"quantification of the amount of complement factor H-related protein 5 in a sample" []	2028347	\N	\N	EFO	4	EFO	information entity	complement factor H-related protein 5 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008098	"quantification of the amount of complement factor H-related protein 5 in a sample" []	3179537	\N	\N	EFO	5	EFO	experimental factor	complement factor H-related protein 5 measurement
EFO:0008099	\N	\N	"quantification of the amount of complement factor I in a sample" []	EFO:0008099	"quantification of the amount of complement factor I in a sample" []	69335	\N	\N	EFO	0	EFO	complement factor I measurement	complement factor I measurement
EFO:0007937	EFO:0008099	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008099	"quantification of the amount of complement factor I in a sample" []	211477	\N	\N	EFO	1	EFO	blood protein measurement	complement factor I measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008099	"quantification of the amount of complement factor I in a sample" []	564747	\N	\N	EFO	2	EFO	protein measurement	complement factor I measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008099	"quantification of the amount of complement factor I in a sample" []	1145923	\N	\N	EFO	3	EFO	measurement	complement factor I measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008099	"quantification of the amount of complement factor I in a sample" []	2028348	\N	\N	EFO	4	EFO	information entity	complement factor I measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008099	"quantification of the amount of complement factor I in a sample" []	3179538	\N	\N	EFO	5	EFO	experimental factor	complement factor I measurement
EFO:0008100	\N	\N	"quantification of the amount of contactin-2 in a sample" []	EFO:0008100	"quantification of the amount of contactin-2 in a sample" []	69336	\N	\N	EFO	0	EFO	contactin-2 measurement	contactin-2 measurement
EFO:0007937	EFO:0008100	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008100	"quantification of the amount of contactin-2 in a sample" []	211478	\N	\N	EFO	1	EFO	blood protein measurement	contactin-2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008100	"quantification of the amount of contactin-2 in a sample" []	564748	\N	\N	EFO	2	EFO	protein measurement	contactin-2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008100	"quantification of the amount of contactin-2 in a sample" []	1145924	\N	\N	EFO	3	EFO	measurement	contactin-2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008100	"quantification of the amount of contactin-2 in a sample" []	2028349	\N	\N	EFO	4	EFO	information entity	contactin-2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008100	"quantification of the amount of contactin-2 in a sample" []	3179539	\N	\N	EFO	5	EFO	experimental factor	contactin-2 measurement
EFO:0008101	\N	\N	"quantification of the amount of contactin-5 in a sample" []	EFO:0008101	"quantification of the amount of contactin-5 in a sample" []	69337	\N	\N	EFO	0	EFO	contactin-5 measurement	contactin-5 measurement
EFO:0007937	EFO:0008101	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008101	"quantification of the amount of contactin-5 in a sample" []	211479	\N	\N	EFO	1	EFO	blood protein measurement	contactin-5 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008101	"quantification of the amount of contactin-5 in a sample" []	564749	\N	\N	EFO	2	EFO	protein measurement	contactin-5 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008101	"quantification of the amount of contactin-5 in a sample" []	1145925	\N	\N	EFO	3	EFO	measurement	contactin-5 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008101	"quantification of the amount of contactin-5 in a sample" []	2028350	\N	\N	EFO	4	EFO	information entity	contactin-5 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008101	"quantification of the amount of contactin-5 in a sample" []	3179540	\N	\N	EFO	5	EFO	experimental factor	contactin-5 measurement
EFO:0008102	\N	\N	"quantification of the amount of copine-1 in a sample" []	EFO:0008102	"quantification of the amount of copine-1 in a sample" []	69338	\N	\N	EFO	0	EFO	copine-1 measurement	copine-1 measurement
EFO:0007937	EFO:0008102	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008102	"quantification of the amount of copine-1 in a sample" []	211480	\N	\N	EFO	1	EFO	blood protein measurement	copine-1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008102	"quantification of the amount of copine-1 in a sample" []	564750	\N	\N	EFO	2	EFO	protein measurement	copine-1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008102	"quantification of the amount of copine-1 in a sample" []	1145926	\N	\N	EFO	3	EFO	measurement	copine-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008102	"quantification of the amount of copine-1 in a sample" []	2028351	\N	\N	EFO	4	EFO	information entity	copine-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008102	"quantification of the amount of copine-1 in a sample" []	3179541	\N	\N	EFO	5	EFO	experimental factor	copine-1 measurement
EFO:0008103	\N	\N	"quantification of the amount of cystatin-D in a sample" []	EFO:0008103	"quantification of the amount of cystatin-D in a sample" []	69339	\N	\N	EFO	0	EFO	cystatin-D measurement	cystatin-D measurement
EFO:0007937	EFO:0008103	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008103	"quantification of the amount of cystatin-D in a sample" []	211481	\N	\N	EFO	1	EFO	blood protein measurement	cystatin-D measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008103	"quantification of the amount of cystatin-D in a sample" []	564751	\N	\N	EFO	2	EFO	protein measurement	cystatin-D measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008103	"quantification of the amount of cystatin-D in a sample" []	1145927	\N	\N	EFO	3	EFO	measurement	cystatin-D measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008103	"quantification of the amount of cystatin-D in a sample" []	2028352	\N	\N	EFO	4	EFO	information entity	cystatin-D measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008103	"quantification of the amount of cystatin-D in a sample" []	3179542	\N	\N	EFO	5	EFO	experimental factor	cystatin-D measurement
EFO:0008104	\N	\N	"quantification of the amount of cystatin-F in a sample" []	EFO:0008104	"quantification of the amount of cystatin-F in a sample" []	69340	\N	\N	EFO	0	EFO	cystatin-F measurement	cystatin-F measurement
EFO:0007937	EFO:0008104	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008104	"quantification of the amount of cystatin-F in a sample" []	211482	\N	\N	EFO	1	EFO	blood protein measurement	cystatin-F measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008104	"quantification of the amount of cystatin-F in a sample" []	564752	\N	\N	EFO	2	EFO	protein measurement	cystatin-F measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008104	"quantification of the amount of cystatin-F in a sample" []	1145928	\N	\N	EFO	3	EFO	measurement	cystatin-F measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008104	"quantification of the amount of cystatin-F in a sample" []	2028353	\N	\N	EFO	4	EFO	information entity	cystatin-F measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008104	"quantification of the amount of cystatin-F in a sample" []	3179543	\N	\N	EFO	5	EFO	experimental factor	cystatin-F measurement
EFO:0008105	\N	\N	"quantification of the amount of cystatin-SA in a sample" []	EFO:0008105	"quantification of the amount of cystatin-SA in a sample" []	69341	\N	\N	EFO	0	EFO	cystatin-SA measurement	cystatin-SA measurement
EFO:0007937	EFO:0008105	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008105	"quantification of the amount of cystatin-SA in a sample" []	211483	\N	\N	EFO	1	EFO	blood protein measurement	cystatin-SA measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008105	"quantification of the amount of cystatin-SA in a sample" []	564753	\N	\N	EFO	2	EFO	protein measurement	cystatin-SA measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008105	"quantification of the amount of cystatin-SA in a sample" []	1145929	\N	\N	EFO	3	EFO	measurement	cystatin-SA measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008105	"quantification of the amount of cystatin-SA in a sample" []	2028354	\N	\N	EFO	4	EFO	information entity	cystatin-SA measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008105	"quantification of the amount of cystatin-SA in a sample" []	3179544	\N	\N	EFO	5	EFO	experimental factor	cystatin-SA measurement
EFO:0008106	\N	\N	"quantification of the amount of cystatin-SN in a sample" []	EFO:0008106	"quantification of the amount of cystatin-SN in a sample" []	69342	\N	\N	EFO	0	EFO	cystatin-SN measurement	cystatin-SN measurement
EFO:0007937	EFO:0008106	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008106	"quantification of the amount of cystatin-SN in a sample" []	211484	\N	\N	EFO	1	EFO	blood protein measurement	cystatin-SN measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008106	"quantification of the amount of cystatin-SN in a sample" []	564754	\N	\N	EFO	2	EFO	protein measurement	cystatin-SN measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008106	"quantification of the amount of cystatin-SN in a sample" []	1145930	\N	\N	EFO	3	EFO	measurement	cystatin-SN measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008106	"quantification of the amount of cystatin-SN in a sample" []	2028355	\N	\N	EFO	4	EFO	information entity	cystatin-SN measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008106	"quantification of the amount of cystatin-SN in a sample" []	3179545	\N	\N	EFO	5	EFO	experimental factor	cystatin-SN measurement
EFO:0008107	\N	\N	"quantification of the amount of death-associated protein kinase 2 in a sample" []	EFO:0008107	"quantification of the amount of death-associated protein kinase 2 in a sample" []	69343	\N	\N	EFO	0	EFO	death-associated protein kinase 2 measurement	death-associated protein kinase 2 measurement
EFO:0007937	EFO:0008107	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008107	"quantification of the amount of death-associated protein kinase 2 in a sample" []	211485	\N	\N	EFO	1	EFO	blood protein measurement	death-associated protein kinase 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008107	"quantification of the amount of death-associated protein kinase 2 in a sample" []	564755	\N	\N	EFO	2	EFO	protein measurement	death-associated protein kinase 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008107	"quantification of the amount of death-associated protein kinase 2 in a sample" []	1145931	\N	\N	EFO	3	EFO	measurement	death-associated protein kinase 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008107	"quantification of the amount of death-associated protein kinase 2 in a sample" []	2028356	\N	\N	EFO	4	EFO	information entity	death-associated protein kinase 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008107	"quantification of the amount of death-associated protein kinase 2 in a sample" []	3179546	\N	\N	EFO	5	EFO	experimental factor	death-associated protein kinase 2 measurement
EFO:0008108	\N	\N	"quantification of the amount of dermatopontin in a sample" []	EFO:0008108	"quantification of the amount of dermatopontin in a sample" []	69344	\N	\N	EFO	0	EFO	dermatopontin measurement	dermatopontin measurement
EFO:0007937	EFO:0008108	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008108	"quantification of the amount of dermatopontin in a sample" []	211486	\N	\N	EFO	1	EFO	blood protein measurement	dermatopontin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008108	"quantification of the amount of dermatopontin in a sample" []	564756	\N	\N	EFO	2	EFO	protein measurement	dermatopontin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008108	"quantification of the amount of dermatopontin in a sample" []	1145932	\N	\N	EFO	3	EFO	measurement	dermatopontin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008108	"quantification of the amount of dermatopontin in a sample" []	2028357	\N	\N	EFO	4	EFO	information entity	dermatopontin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008108	"quantification of the amount of dermatopontin in a sample" []	3179547	\N	\N	EFO	5	EFO	experimental factor	dermatopontin measurement
EFO:0008109	\N	\N	"quantification of the amount of Dickkopf-related protein 3 in a sample" []	EFO:0008109	"quantification of the amount of Dickkopf-related protein 3 in a sample" []	69345	\N	\N	EFO	0	EFO	Dickkopf-related protein 3 measurement	Dickkopf-related protein 3 measurement
EFO:0007937	EFO:0008109	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008109	"quantification of the amount of Dickkopf-related protein 3 in a sample" []	211487	\N	\N	EFO	1	EFO	blood protein measurement	Dickkopf-related protein 3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008109	"quantification of the amount of Dickkopf-related protein 3 in a sample" []	564757	\N	\N	EFO	2	EFO	protein measurement	Dickkopf-related protein 3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008109	"quantification of the amount of Dickkopf-related protein 3 in a sample" []	1145933	\N	\N	EFO	3	EFO	measurement	Dickkopf-related protein 3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008109	"quantification of the amount of Dickkopf-related protein 3 in a sample" []	2028358	\N	\N	EFO	4	EFO	information entity	Dickkopf-related protein 3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008109	"quantification of the amount of Dickkopf-related protein 3 in a sample" []	3179548	\N	\N	EFO	5	EFO	experimental factor	Dickkopf-related protein 3 measurement
EFO:0008110	\N	\N	"quantification of the amount of Dickkopf-related protein 4 in a sample" []	EFO:0008110	"quantification of the amount of Dickkopf-related protein 4 in a sample" []	69346	\N	\N	EFO	0	EFO	Dickkopf-related protein 4 measurement	Dickkopf-related protein 4 measurement
EFO:0007937	EFO:0008110	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008110	"quantification of the amount of Dickkopf-related protein 4 in a sample" []	211488	\N	\N	EFO	1	EFO	blood protein measurement	Dickkopf-related protein 4 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008110	"quantification of the amount of Dickkopf-related protein 4 in a sample" []	564758	\N	\N	EFO	2	EFO	protein measurement	Dickkopf-related protein 4 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008110	"quantification of the amount of Dickkopf-related protein 4 in a sample" []	1145934	\N	\N	EFO	3	EFO	measurement	Dickkopf-related protein 4 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008110	"quantification of the amount of Dickkopf-related protein 4 in a sample" []	2028359	\N	\N	EFO	4	EFO	information entity	Dickkopf-related protein 4 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008110	"quantification of the amount of Dickkopf-related protein 4 in a sample" []	3179549	\N	\N	EFO	5	EFO	experimental factor	Dickkopf-related protein 4 measurement
EFO:0008111	\N	\N	"quantification of some aspect of diet, including diet patterns, balance of nutrient consumption and glycemic load" []	EFO:0008111	"quantification of some aspect of diet, including diet patterns, balance of nutrient consumption and glycemic load" []	69347	\N	\N	EFO	0	EFO	diet measurement	diet measurement
EFO:0001444	EFO:0008111	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008111	"quantification of some aspect of diet, including diet patterns, balance of nutrient consumption and glycemic load" []	211489	\N	\N	EFO	1	EFO	measurement	diet measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008111	"quantification of some aspect of diet, including diet patterns, balance of nutrient consumption and glycemic load" []	564759	\N	\N	EFO	2	EFO	information entity	diet measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008111	"quantification of some aspect of diet, including diet patterns, balance of nutrient consumption and glycemic load" []	1145935	\N	\N	EFO	3	EFO	experimental factor	diet measurement
EFO:0008112	\N	\N	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 2 in a sample" []	EFO:0008112	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 2 in a sample" []	69348	\N	\N	EFO	0	EFO	dual specificity mitogen-activated protein kinase kinase 2 measurement	dual specificity mitogen-activated protein kinase kinase 2 measurement
EFO:0007937	EFO:0008112	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008112	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 2 in a sample" []	211490	\N	\N	EFO	1	EFO	blood protein measurement	dual specificity mitogen-activated protein kinase kinase 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008112	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 2 in a sample" []	564760	\N	\N	EFO	2	EFO	protein measurement	dual specificity mitogen-activated protein kinase kinase 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008112	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 2 in a sample" []	1145936	\N	\N	EFO	3	EFO	measurement	dual specificity mitogen-activated protein kinase kinase 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008112	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 2 in a sample" []	2028360	\N	\N	EFO	4	EFO	information entity	dual specificity mitogen-activated protein kinase kinase 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008112	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 2 in a sample" []	3179550	\N	\N	EFO	5	EFO	experimental factor	dual specificity mitogen-activated protein kinase kinase 2 measurement
EFO:0008113	\N	\N	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 4 in a sample" []	EFO:0008113	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 4 in a sample" []	69349	\N	\N	EFO	0	EFO	dual specificity mitogen-activated protein kinase kinase 4 measurement	dual specificity mitogen-activated protein kinase kinase 4 measurement
EFO:0007937	EFO:0008113	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008113	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 4 in a sample" []	211491	\N	\N	EFO	1	EFO	blood protein measurement	dual specificity mitogen-activated protein kinase kinase 4 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008113	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 4 in a sample" []	564761	\N	\N	EFO	2	EFO	protein measurement	dual specificity mitogen-activated protein kinase kinase 4 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008113	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 4 in a sample" []	1145937	\N	\N	EFO	3	EFO	measurement	dual specificity mitogen-activated protein kinase kinase 4 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008113	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 4 in a sample" []	2028361	\N	\N	EFO	4	EFO	information entity	dual specificity mitogen-activated protein kinase kinase 4 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008113	"quantification of the amount of dual specificity mitogen-activated protein kinase kinase 4 in a sample" []	3179551	\N	\N	EFO	5	EFO	experimental factor	dual specificity mitogen-activated protein kinase kinase 4 measurement
EFO:0008114	\N	\N	"quantification of the amount of dynein light chain roadblock-type 1 in a sample" []	EFO:0008114	"quantification of the amount of dynein light chain roadblock-type 1 in a sample" []	69350	\N	\N	EFO	0	EFO	dynein light chain roadblock-type 1 measurement	dynein light chain roadblock-type 1 measurement
EFO:0007937	EFO:0008114	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008114	"quantification of the amount of dynein light chain roadblock-type 1 in a sample" []	211492	\N	\N	EFO	1	EFO	blood protein measurement	dynein light chain roadblock-type 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008114	"quantification of the amount of dynein light chain roadblock-type 1 in a sample" []	564762	\N	\N	EFO	2	EFO	protein measurement	dynein light chain roadblock-type 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008114	"quantification of the amount of dynein light chain roadblock-type 1 in a sample" []	1145938	\N	\N	EFO	3	EFO	measurement	dynein light chain roadblock-type 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008114	"quantification of the amount of dynein light chain roadblock-type 1 in a sample" []	2028362	\N	\N	EFO	4	EFO	information entity	dynein light chain roadblock-type 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008114	"quantification of the amount of dynein light chain roadblock-type 1 in a sample" []	3179552	\N	\N	EFO	5	EFO	experimental factor	dynein light chain roadblock-type 1 measurement
EFO:0008115	\N	\N	"quantification of the amount of ectonucleoside triphosphate diphosphohydrolase 5 in a sample" []	EFO:0008115	"quantification of the amount of ectonucleoside triphosphate diphosphohydrolase 5 in a sample" []	69351	\N	\N	EFO	0	EFO	ectonucleoside triphosphate diphosphohydrolase 5 measurement	ectonucleoside triphosphate diphosphohydrolase 5 measurement
EFO:0007937	EFO:0008115	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008115	"quantification of the amount of ectonucleoside triphosphate diphosphohydrolase 5 in a sample" []	211493	\N	\N	EFO	1	EFO	blood protein measurement	ectonucleoside triphosphate diphosphohydrolase 5 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008115	"quantification of the amount of ectonucleoside triphosphate diphosphohydrolase 5 in a sample" []	564763	\N	\N	EFO	2	EFO	protein measurement	ectonucleoside triphosphate diphosphohydrolase 5 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008115	"quantification of the amount of ectonucleoside triphosphate diphosphohydrolase 5 in a sample" []	1145939	\N	\N	EFO	3	EFO	measurement	ectonucleoside triphosphate diphosphohydrolase 5 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008115	"quantification of the amount of ectonucleoside triphosphate diphosphohydrolase 5 in a sample" []	2028363	\N	\N	EFO	4	EFO	information entity	ectonucleoside triphosphate diphosphohydrolase 5 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008115	"quantification of the amount of ectonucleoside triphosphate diphosphohydrolase 5 in a sample" []	3179553	\N	\N	EFO	5	EFO	experimental factor	ectonucleoside triphosphate diphosphohydrolase 5 measurement
EFO:0008116	\N	\N	"quantification of the amount of EGF-like module-containing mucin-like hormone receptor-like 2 in a sample" []	EFO:0008116	"quantification of the amount of EGF-like module-containing mucin-like hormone receptor-like 2 in a sample" []	69352	\N	\N	EFO	0	EFO	EGF-like module-containing mucin-like hormone receptor-like 2 measurement	EGF-like module-containing mucin-like hormone receptor-like 2 measurement
EFO:0007937	EFO:0008116	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008116	"quantification of the amount of EGF-like module-containing mucin-like hormone receptor-like 2 in a sample" []	211494	\N	\N	EFO	1	EFO	blood protein measurement	EGF-like module-containing mucin-like hormone receptor-like 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008116	"quantification of the amount of EGF-like module-containing mucin-like hormone receptor-like 2 in a sample" []	564764	\N	\N	EFO	2	EFO	protein measurement	EGF-like module-containing mucin-like hormone receptor-like 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008116	"quantification of the amount of EGF-like module-containing mucin-like hormone receptor-like 2 in a sample" []	1145940	\N	\N	EFO	3	EFO	measurement	EGF-like module-containing mucin-like hormone receptor-like 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008116	"quantification of the amount of EGF-like module-containing mucin-like hormone receptor-like 2 in a sample" []	2028364	\N	\N	EFO	4	EFO	information entity	EGF-like module-containing mucin-like hormone receptor-like 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008116	"quantification of the amount of EGF-like module-containing mucin-like hormone receptor-like 2 in a sample" []	3179554	\N	\N	EFO	5	EFO	experimental factor	EGF-like module-containing mucin-like hormone receptor-like 2 measurement
EFO:0008117	\N	\N	"quantification of the amount of elafin in a sample" []	EFO:0008117	"quantification of the amount of elafin in a sample" []	69353	\N	\N	EFO	0	EFO	elafin measurement	elafin measurement
EFO:0007937	EFO:0008117	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008117	"quantification of the amount of elafin in a sample" []	211495	\N	\N	EFO	1	EFO	blood protein measurement	elafin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008117	"quantification of the amount of elafin in a sample" []	564765	\N	\N	EFO	2	EFO	protein measurement	elafin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008117	"quantification of the amount of elafin in a sample" []	1145941	\N	\N	EFO	3	EFO	measurement	elafin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008117	"quantification of the amount of elafin in a sample" []	2028365	\N	\N	EFO	4	EFO	information entity	elafin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008117	"quantification of the amount of elafin in a sample" []	3179555	\N	\N	EFO	5	EFO	experimental factor	elafin measurement
EFO:0008118	\N	\N	"quantification of the amount of endoglin in a sample" []	EFO:0008118	"quantification of the amount of endoglin in a sample" []	69354	\N	\N	EFO	0	EFO	endoglin measurement	endoglin measurement
EFO:0007937	EFO:0008118	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008118	"quantification of the amount of endoglin in a sample" []	211496	\N	\N	EFO	1	EFO	blood protein measurement	endoglin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008118	"quantification of the amount of endoglin in a sample" []	564766	\N	\N	EFO	2	EFO	protein measurement	endoglin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008118	"quantification of the amount of endoglin in a sample" []	1145942	\N	\N	EFO	3	EFO	measurement	endoglin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008118	"quantification of the amount of endoglin in a sample" []	2028366	\N	\N	EFO	4	EFO	information entity	endoglin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008118	"quantification of the amount of endoglin in a sample" []	3179556	\N	\N	EFO	5	EFO	experimental factor	endoglin measurement
EFO:0008119	\N	\N	"quantification of the amount of endoplasmic reticulum aminopeptidase 1 in a sample" []	EFO:0008119	"quantification of the amount of endoplasmic reticulum aminopeptidase 1 in a sample" []	69355	\N	\N	EFO	0	EFO	endoplasmic reticulum aminopeptidase 1 measurement	endoplasmic reticulum aminopeptidase 1 measurement
EFO:0007937	EFO:0008119	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008119	"quantification of the amount of endoplasmic reticulum aminopeptidase 1 in a sample" []	211497	\N	\N	EFO	1	EFO	blood protein measurement	endoplasmic reticulum aminopeptidase 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008119	"quantification of the amount of endoplasmic reticulum aminopeptidase 1 in a sample" []	564767	\N	\N	EFO	2	EFO	protein measurement	endoplasmic reticulum aminopeptidase 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008119	"quantification of the amount of endoplasmic reticulum aminopeptidase 1 in a sample" []	1145943	\N	\N	EFO	3	EFO	measurement	endoplasmic reticulum aminopeptidase 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008119	"quantification of the amount of endoplasmic reticulum aminopeptidase 1 in a sample" []	2028367	\N	\N	EFO	4	EFO	information entity	endoplasmic reticulum aminopeptidase 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008119	"quantification of the amount of endoplasmic reticulum aminopeptidase 1 in a sample" []	3179557	\N	\N	EFO	5	EFO	experimental factor	endoplasmic reticulum aminopeptidase 1 measurement
EFO:0008120	\N	\N	"quantification of the amount of endothelial cell-selective adhesion molecule in a sample" []	EFO:0008120	"quantification of the amount of endothelial cell-selective adhesion molecule in a sample" []	69356	\N	\N	EFO	0	EFO	endothelial cell-selective adhesion molecule measurement	endothelial cell-selective adhesion molecule measurement
EFO:0007937	EFO:0008120	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008120	"quantification of the amount of endothelial cell-selective adhesion molecule in a sample" []	211498	\N	\N	EFO	1	EFO	blood protein measurement	endothelial cell-selective adhesion molecule measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008120	"quantification of the amount of endothelial cell-selective adhesion molecule in a sample" []	564768	\N	\N	EFO	2	EFO	protein measurement	endothelial cell-selective adhesion molecule measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008120	"quantification of the amount of endothelial cell-selective adhesion molecule in a sample" []	1145944	\N	\N	EFO	3	EFO	measurement	endothelial cell-selective adhesion molecule measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008120	"quantification of the amount of endothelial cell-selective adhesion molecule in a sample" []	2028368	\N	\N	EFO	4	EFO	information entity	endothelial cell-selective adhesion molecule measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008120	"quantification of the amount of endothelial cell-selective adhesion molecule in a sample" []	3179558	\N	\N	EFO	5	EFO	experimental factor	endothelial cell-selective adhesion molecule measurement
EFO:0008121	\N	\N	"quantification of the amount of endothelin-converting enzyme 1 in a sample" []	EFO:0008121	"quantification of the amount of endothelin-converting enzyme 1 in a sample" []	69357	\N	\N	EFO	0	EFO	endothelin-converting enzyme 1 measurement	endothelin-converting enzyme 1 measurement
EFO:0007937	EFO:0008121	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008121	"quantification of the amount of endothelin-converting enzyme 1 in a sample" []	211499	\N	\N	EFO	1	EFO	blood protein measurement	endothelin-converting enzyme 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008121	"quantification of the amount of endothelin-converting enzyme 1 in a sample" []	564769	\N	\N	EFO	2	EFO	protein measurement	endothelin-converting enzyme 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008121	"quantification of the amount of endothelin-converting enzyme 1 in a sample" []	1145945	\N	\N	EFO	3	EFO	measurement	endothelin-converting enzyme 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008121	"quantification of the amount of endothelin-converting enzyme 1 in a sample" []	2028369	\N	\N	EFO	4	EFO	information entity	endothelin-converting enzyme 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008121	"quantification of the amount of endothelin-converting enzyme 1 in a sample" []	3179559	\N	\N	EFO	5	EFO	experimental factor	endothelin-converting enzyme 1 measurement
EFO:0008122	\N	\N	"quantification of the amount of eotaxin in a sample" []	EFO:0008122	"quantification of the amount of eotaxin in a sample" []	69358	\N	\N	EFO	0	EFO	eotaxin measurement	eotaxin measurement
EFO:0007937	EFO:0008122	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008122	"quantification of the amount of eotaxin in a sample" []	211500	\N	\N	EFO	1	EFO	blood protein measurement	eotaxin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008122	"quantification of the amount of eotaxin in a sample" []	564770	\N	\N	EFO	2	EFO	protein measurement	eotaxin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008122	"quantification of the amount of eotaxin in a sample" []	1145946	\N	\N	EFO	3	EFO	measurement	eotaxin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008122	"quantification of the amount of eotaxin in a sample" []	2028370	\N	\N	EFO	4	EFO	information entity	eotaxin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008122	"quantification of the amount of eotaxin in a sample" []	3179560	\N	\N	EFO	5	EFO	experimental factor	eotaxin measurement
EFO:0008123	\N	\N	"quantification of the amount of ephrin type-A receptor 1 in a sample" []	EFO:0008123	"quantification of the amount of ephrin type-A receptor 1 in a sample" []	69359	\N	\N	EFO	0	EFO	ephrin type-A receptor 1 measurement	ephrin type-A receptor 1 measurement
EFO:0007937	EFO:0008123	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008123	"quantification of the amount of ephrin type-A receptor 1 in a sample" []	211501	\N	\N	EFO	1	EFO	blood protein measurement	ephrin type-A receptor 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008123	"quantification of the amount of ephrin type-A receptor 1 in a sample" []	564771	\N	\N	EFO	2	EFO	protein measurement	ephrin type-A receptor 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008123	"quantification of the amount of ephrin type-A receptor 1 in a sample" []	1145947	\N	\N	EFO	3	EFO	measurement	ephrin type-A receptor 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008123	"quantification of the amount of ephrin type-A receptor 1 in a sample" []	2028371	\N	\N	EFO	4	EFO	information entity	ephrin type-A receptor 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008123	"quantification of the amount of ephrin type-A receptor 1 in a sample" []	3179561	\N	\N	EFO	5	EFO	experimental factor	ephrin type-A receptor 1 measurement
EFO:0008124	\N	\N	"quantification of the amount of ephrin type-B receptor 2 in a sample" []	EFO:0008124	"quantification of the amount of ephrin type-B receptor 2 in a sample" []	69360	\N	\N	EFO	0	EFO	ephrin type-B receptor 2 measurement	ephrin type-B receptor 2 measurement
EFO:0007937	EFO:0008124	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008124	"quantification of the amount of ephrin type-B receptor 2 in a sample" []	211502	\N	\N	EFO	1	EFO	blood protein measurement	ephrin type-B receptor 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008124	"quantification of the amount of ephrin type-B receptor 2 in a sample" []	564772	\N	\N	EFO	2	EFO	protein measurement	ephrin type-B receptor 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008124	"quantification of the amount of ephrin type-B receptor 2 in a sample" []	1145948	\N	\N	EFO	3	EFO	measurement	ephrin type-B receptor 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008124	"quantification of the amount of ephrin type-B receptor 2 in a sample" []	2028372	\N	\N	EFO	4	EFO	information entity	ephrin type-B receptor 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008124	"quantification of the amount of ephrin type-B receptor 2 in a sample" []	3179562	\N	\N	EFO	5	EFO	experimental factor	ephrin type-B receptor 2 measurement
EFO:0008125	\N	\N	"quantification of the amount of estrogen receptor in a sample" []	EFO:0008125	"quantification of the amount of estrogen receptor in a sample" []	69361	\N	\N	EFO	0	EFO	estrogen receptor measurement	estrogen receptor measurement
EFO:0007937	EFO:0008125	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008125	"quantification of the amount of estrogen receptor in a sample" []	211503	\N	\N	EFO	1	EFO	blood protein measurement	estrogen receptor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008125	"quantification of the amount of estrogen receptor in a sample" []	564773	\N	\N	EFO	2	EFO	protein measurement	estrogen receptor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008125	"quantification of the amount of estrogen receptor in a sample" []	1145949	\N	\N	EFO	3	EFO	measurement	estrogen receptor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008125	"quantification of the amount of estrogen receptor in a sample" []	2028373	\N	\N	EFO	4	EFO	information entity	estrogen receptor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008125	"quantification of the amount of estrogen receptor in a sample" []	3179563	\N	\N	EFO	5	EFO	experimental factor	estrogen receptor measurement
EFO:0008126	\N	\N	"quantification of the amount of extracellular matrix protein 1 in a sample" []	EFO:0008126	"quantification of the amount of extracellular matrix protein 1 in a sample" []	69362	\N	\N	EFO	0	EFO	extracellular matrix protein 1 measurement	extracellular matrix protein 1 measurement
EFO:0007937	EFO:0008126	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008126	"quantification of the amount of extracellular matrix protein 1 in a sample" []	211504	\N	\N	EFO	1	EFO	blood protein measurement	extracellular matrix protein 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008126	"quantification of the amount of extracellular matrix protein 1 in a sample" []	564774	\N	\N	EFO	2	EFO	protein measurement	extracellular matrix protein 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008126	"quantification of the amount of extracellular matrix protein 1 in a sample" []	1145950	\N	\N	EFO	3	EFO	measurement	extracellular matrix protein 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008126	"quantification of the amount of extracellular matrix protein 1 in a sample" []	2028374	\N	\N	EFO	4	EFO	information entity	extracellular matrix protein 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008126	"quantification of the amount of extracellular matrix protein 1 in a sample" []	3179564	\N	\N	EFO	5	EFO	experimental factor	extracellular matrix protein 1 measurement
EFO:0008127	\N	\N	"quantification of the amount of Fc receptor-like protein 3 in a sample" []	EFO:0008127	"quantification of the amount of Fc receptor-like protein 3 in a sample" []	69363	\N	\N	EFO	0	EFO	Fc receptor-like protein 3 measurement	Fc receptor-like protein 3 measurement
EFO:0007937	EFO:0008127	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008127	"quantification of the amount of Fc receptor-like protein 3 in a sample" []	211505	\N	\N	EFO	1	EFO	blood protein measurement	Fc receptor-like protein 3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008127	"quantification of the amount of Fc receptor-like protein 3 in a sample" []	564775	\N	\N	EFO	2	EFO	protein measurement	Fc receptor-like protein 3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008127	"quantification of the amount of Fc receptor-like protein 3 in a sample" []	1145951	\N	\N	EFO	3	EFO	measurement	Fc receptor-like protein 3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008127	"quantification of the amount of Fc receptor-like protein 3 in a sample" []	2028375	\N	\N	EFO	4	EFO	information entity	Fc receptor-like protein 3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008127	"quantification of the amount of Fc receptor-like protein 3 in a sample" []	3179565	\N	\N	EFO	5	EFO	experimental factor	Fc receptor-like protein 3 measurement
EFO:0008128	\N	\N	"quantification of the amount of fetuin-B in a sample" []	EFO:0008128	"quantification of the amount of fetuin-B in a sample" []	69364	\N	\N	EFO	0	EFO	fetuin-B measurement	fetuin-B measurement
EFO:0007937	EFO:0008128	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008128	"quantification of the amount of fetuin-B in a sample" []	211506	\N	\N	EFO	1	EFO	blood protein measurement	fetuin-B measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008128	"quantification of the amount of fetuin-B in a sample" []	564776	\N	\N	EFO	2	EFO	protein measurement	fetuin-B measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008128	"quantification of the amount of fetuin-B in a sample" []	1145952	\N	\N	EFO	3	EFO	measurement	fetuin-B measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008128	"quantification of the amount of fetuin-B in a sample" []	2028376	\N	\N	EFO	4	EFO	information entity	fetuin-B measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008128	"quantification of the amount of fetuin-B in a sample" []	3179566	\N	\N	EFO	5	EFO	experimental factor	fetuin-B measurement
EFO:0008129	\N	\N	"quantification of the amount of fibroblast growth factor 2 in a sample" []	EFO:0008129	"quantification of the amount of fibroblast growth factor 2 in a sample" []	69365	\N	\N	EFO	0	EFO	fibroblast growth factor 2 measurement	fibroblast growth factor 2 measurement
EFO:0007937	EFO:0008129	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008129	"quantification of the amount of fibroblast growth factor 2 in a sample" []	211507	\N	\N	EFO	1	EFO	blood protein measurement	fibroblast growth factor 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008129	"quantification of the amount of fibroblast growth factor 2 in a sample" []	564777	\N	\N	EFO	2	EFO	protein measurement	fibroblast growth factor 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008129	"quantification of the amount of fibroblast growth factor 2 in a sample" []	1145953	\N	\N	EFO	3	EFO	measurement	fibroblast growth factor 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008129	"quantification of the amount of fibroblast growth factor 2 in a sample" []	2028377	\N	\N	EFO	4	EFO	information entity	fibroblast growth factor 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008129	"quantification of the amount of fibroblast growth factor 2 in a sample" []	3179567	\N	\N	EFO	5	EFO	experimental factor	fibroblast growth factor 2 measurement
EFO:0008130	\N	\N	"quantification of the amount of fibroblast growth factor basic in a sample" []	EFO:0008130	"quantification of the amount of fibroblast growth factor basic in a sample" []	69366	\N	\N	EFO	0	EFO	fibroblast growth factor basic measurement	fibroblast growth factor basic measurement
EFO:0007937	EFO:0008130	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008130	"quantification of the amount of fibroblast growth factor basic in a sample" []	211508	\N	\N	EFO	1	EFO	blood protein measurement	fibroblast growth factor basic measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008130	"quantification of the amount of fibroblast growth factor basic in a sample" []	564778	\N	\N	EFO	2	EFO	protein measurement	fibroblast growth factor basic measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008130	"quantification of the amount of fibroblast growth factor basic in a sample" []	1145954	\N	\N	EFO	3	EFO	measurement	fibroblast growth factor basic measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008130	"quantification of the amount of fibroblast growth factor basic in a sample" []	2028378	\N	\N	EFO	4	EFO	information entity	fibroblast growth factor basic measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008130	"quantification of the amount of fibroblast growth factor basic in a sample" []	3179568	\N	\N	EFO	5	EFO	experimental factor	fibroblast growth factor basic measurement
EFO:0008131	\N	\N	"quantification of the amount of fibronectin Fragment 3 in a sample" []	EFO:0008131	"quantification of the amount of fibronectin Fragment 3 in a sample" []	69367	\N	\N	EFO	0	EFO	fibronectin fragment 3 measurement	fibronectin fragment 3 measurement
EFO:0007937	EFO:0008131	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008131	"quantification of the amount of fibronectin Fragment 3 in a sample" []	211509	\N	\N	EFO	1	EFO	blood protein measurement	fibronectin fragment 3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008131	"quantification of the amount of fibronectin Fragment 3 in a sample" []	564779	\N	\N	EFO	2	EFO	protein measurement	fibronectin fragment 3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008131	"quantification of the amount of fibronectin Fragment 3 in a sample" []	1145955	\N	\N	EFO	3	EFO	measurement	fibronectin fragment 3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008131	"quantification of the amount of fibronectin Fragment 3 in a sample" []	2028379	\N	\N	EFO	4	EFO	information entity	fibronectin fragment 3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008131	"quantification of the amount of fibronectin Fragment 3 in a sample" []	3179569	\N	\N	EFO	5	EFO	experimental factor	fibronectin fragment 3 measurement
EFO:0008132	\N	\N	"quantification of the amount of fibronectin Fragment 4 in a sample" []	EFO:0008132	"quantification of the amount of fibronectin Fragment 4 in a sample" []	69368	\N	\N	EFO	0	EFO	fibronectin fragment 4 measurement	fibronectin fragment 4 measurement
EFO:0007937	EFO:0008132	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008132	"quantification of the amount of fibronectin Fragment 4 in a sample" []	211510	\N	\N	EFO	1	EFO	blood protein measurement	fibronectin fragment 4 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008132	"quantification of the amount of fibronectin Fragment 4 in a sample" []	564780	\N	\N	EFO	2	EFO	protein measurement	fibronectin fragment 4 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008132	"quantification of the amount of fibronectin Fragment 4 in a sample" []	1145956	\N	\N	EFO	3	EFO	measurement	fibronectin fragment 4 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008132	"quantification of the amount of fibronectin Fragment 4 in a sample" []	2028380	\N	\N	EFO	4	EFO	information entity	fibronectin fragment 4 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008132	"quantification of the amount of fibronectin Fragment 4 in a sample" []	3179570	\N	\N	EFO	5	EFO	experimental factor	fibronectin fragment 4 measurement
EFO:0008133	\N	\N	"quantification of the amount of fibronectin in a sample" []	EFO:0008133	"quantification of the amount of fibronectin in a sample" []	69369	\N	\N	EFO	0	EFO	fibronectin measurement	fibronectin measurement
EFO:0007937	EFO:0008133	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008133	"quantification of the amount of fibronectin in a sample" []	211511	\N	\N	EFO	1	EFO	blood protein measurement	fibronectin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008133	"quantification of the amount of fibronectin in a sample" []	564781	\N	\N	EFO	2	EFO	protein measurement	fibronectin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008133	"quantification of the amount of fibronectin in a sample" []	1145957	\N	\N	EFO	3	EFO	measurement	fibronectin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008133	"quantification of the amount of fibronectin in a sample" []	2028381	\N	\N	EFO	4	EFO	information entity	fibronectin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008133	"quantification of the amount of fibronectin in a sample" []	3179571	\N	\N	EFO	5	EFO	experimental factor	fibronectin measurement
EFO:0008134	\N	\N	"quantification of the amount of ficolin-1 in a sample" []	EFO:0008134	"quantification of the amount of ficolin-1 in a sample" []	69370	\N	\N	EFO	0	EFO	ficolin-1 measurement	ficolin-1 measurement
EFO:0007937	EFO:0008134	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008134	"quantification of the amount of ficolin-1 in a sample" []	211512	\N	\N	EFO	1	EFO	blood protein measurement	ficolin-1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008134	"quantification of the amount of ficolin-1 in a sample" []	564782	\N	\N	EFO	2	EFO	protein measurement	ficolin-1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008134	"quantification of the amount of ficolin-1 in a sample" []	1145958	\N	\N	EFO	3	EFO	measurement	ficolin-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008134	"quantification of the amount of ficolin-1 in a sample" []	2028382	\N	\N	EFO	4	EFO	information entity	ficolin-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008134	"quantification of the amount of ficolin-1 in a sample" []	3179572	\N	\N	EFO	5	EFO	experimental factor	ficolin-1 measurement
EFO:0008135	\N	\N	"quantification of the amount of ficolin-2 in a sample" []	EFO:0008135	"quantification of the amount of ficolin-2 in a sample" []	69371	\N	\N	EFO	0	EFO	ficolin-2 measurement	ficolin-2 measurement
EFO:0007937	EFO:0008135	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008135	"quantification of the amount of ficolin-2 in a sample" []	211513	\N	\N	EFO	1	EFO	blood protein measurement	ficolin-2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008135	"quantification of the amount of ficolin-2 in a sample" []	564783	\N	\N	EFO	2	EFO	protein measurement	ficolin-2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008135	"quantification of the amount of ficolin-2 in a sample" []	1145959	\N	\N	EFO	3	EFO	measurement	ficolin-2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008135	"quantification of the amount of ficolin-2 in a sample" []	2028383	\N	\N	EFO	4	EFO	information entity	ficolin-2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008135	"quantification of the amount of ficolin-2 in a sample" []	3179573	\N	\N	EFO	5	EFO	experimental factor	ficolin-2 measurement
EFO:0008136	\N	\N	"quantification of the amount of galactoside 34-L-fucosyltransferase in a sample" []	EFO:0008136	"quantification of the amount of galactoside 34-L-fucosyltransferase in a sample" []	69372	\N	\N	EFO	0	EFO	galactoside 34-L-fucosyltransferase measurement	galactoside 34-L-fucosyltransferase measurement
EFO:0007937	EFO:0008136	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008136	"quantification of the amount of galactoside 34-L-fucosyltransferase in a sample" []	211514	\N	\N	EFO	1	EFO	blood protein measurement	galactoside 34-L-fucosyltransferase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008136	"quantification of the amount of galactoside 34-L-fucosyltransferase in a sample" []	564784	\N	\N	EFO	2	EFO	protein measurement	galactoside 34-L-fucosyltransferase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008136	"quantification of the amount of galactoside 34-L-fucosyltransferase in a sample" []	1145960	\N	\N	EFO	3	EFO	measurement	galactoside 34-L-fucosyltransferase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008136	"quantification of the amount of galactoside 34-L-fucosyltransferase in a sample" []	2028384	\N	\N	EFO	4	EFO	information entity	galactoside 34-L-fucosyltransferase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008136	"quantification of the amount of galactoside 34-L-fucosyltransferase in a sample" []	3179574	\N	\N	EFO	5	EFO	experimental factor	galactoside 34-L-fucosyltransferase measurement
EFO:0008137	\N	\N	"quantification of the amount of galectin-3 in a sample" []	EFO:0008137	"quantification of the amount of galectin-3 in a sample" []	69373	\N	\N	EFO	0	EFO	galectin-3 measurement	galectin-3 measurement
EFO:0007937	EFO:0008137	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008137	"quantification of the amount of galectin-3 in a sample" []	211515	\N	\N	EFO	1	EFO	blood protein measurement	galectin-3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008137	"quantification of the amount of galectin-3 in a sample" []	564785	\N	\N	EFO	2	EFO	protein measurement	galectin-3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008137	"quantification of the amount of galectin-3 in a sample" []	1145961	\N	\N	EFO	3	EFO	measurement	galectin-3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008137	"quantification of the amount of galectin-3 in a sample" []	2028385	\N	\N	EFO	4	EFO	information entity	galectin-3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008137	"quantification of the amount of galectin-3 in a sample" []	3179575	\N	\N	EFO	5	EFO	experimental factor	galectin-3 measurement
EFO:0008138	\N	\N	"quantification of the amount of GDNF family receptor alpha-2 in a sample" []	EFO:0008138	"quantification of the amount of GDNF family receptor alpha-2 in a sample" []	69374	\N	\N	EFO	0	EFO	GDNF family receptor alpha-2 measurement	GDNF family receptor alpha-2 measurement
EFO:0007937	EFO:0008138	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008138	"quantification of the amount of GDNF family receptor alpha-2 in a sample" []	211516	\N	\N	EFO	1	EFO	blood protein measurement	GDNF family receptor alpha-2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008138	"quantification of the amount of GDNF family receptor alpha-2 in a sample" []	564786	\N	\N	EFO	2	EFO	protein measurement	GDNF family receptor alpha-2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008138	"quantification of the amount of GDNF family receptor alpha-2 in a sample" []	1145962	\N	\N	EFO	3	EFO	measurement	GDNF family receptor alpha-2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008138	"quantification of the amount of GDNF family receptor alpha-2 in a sample" []	2028386	\N	\N	EFO	4	EFO	information entity	GDNF family receptor alpha-2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008138	"quantification of the amount of GDNF family receptor alpha-2 in a sample" []	3179576	\N	\N	EFO	5	EFO	experimental factor	GDNF family receptor alpha-2 measurement
EFO:0008139	\N	\N	"quantification of the amount of glypican-5 in a sample" []	EFO:0008139	"quantification of the amount of glypican-5 in a sample" []	69375	\N	\N	EFO	0	EFO	glypican-5 measurement	glypican-5 measurement
EFO:0007937	EFO:0008139	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008139	"quantification of the amount of glypican-5 in a sample" []	211517	\N	\N	EFO	1	EFO	blood protein measurement	glypican-5 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008139	"quantification of the amount of glypican-5 in a sample" []	564787	\N	\N	EFO	2	EFO	protein measurement	glypican-5 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008139	"quantification of the amount of glypican-5 in a sample" []	1145963	\N	\N	EFO	3	EFO	measurement	glypican-5 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008139	"quantification of the amount of glypican-5 in a sample" []	2028387	\N	\N	EFO	4	EFO	information entity	glypican-5 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008139	"quantification of the amount of glypican-5 in a sample" []	3179577	\N	\N	EFO	5	EFO	experimental factor	glypican-5 measurement
EFO:0008140	\N	\N	"quantification of the amount of gp41 C34 peptide, HIV in a sample" []	EFO:0008140	"quantification of the amount of gp41 C34 peptide, HIV in a sample" []	69376	\N	\N	EFO	0	EFO	gp41 C34 peptide, HIV measurement	gp41 C34 peptide, HIV measurement
EFO:0007937	EFO:0008140	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008140	"quantification of the amount of gp41 C34 peptide, HIV in a sample" []	211518	\N	\N	EFO	1	EFO	blood protein measurement	gp41 C34 peptide, HIV measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008140	"quantification of the amount of gp41 C34 peptide, HIV in a sample" []	564788	\N	\N	EFO	2	EFO	protein measurement	gp41 C34 peptide, HIV measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008140	"quantification of the amount of gp41 C34 peptide, HIV in a sample" []	1145964	\N	\N	EFO	3	EFO	measurement	gp41 C34 peptide, HIV measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008140	"quantification of the amount of gp41 C34 peptide, HIV in a sample" []	2028388	\N	\N	EFO	4	EFO	information entity	gp41 C34 peptide, HIV measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008140	"quantification of the amount of gp41 C34 peptide, HIV in a sample" []	3179578	\N	\N	EFO	5	EFO	experimental factor	gp41 C34 peptide, HIV measurement
EFO:0008141	\N	\N	"quantification of the amount of granulins in a sample" []	EFO:0008141	"quantification of the amount of granulins in a sample" []	69377	\N	\N	EFO	0	EFO	granulins measurement	granulins measurement
EFO:0007937	EFO:0008141	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008141	"quantification of the amount of granulins in a sample" []	211519	\N	\N	EFO	1	EFO	blood protein measurement	granulins measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008141	"quantification of the amount of granulins in a sample" []	564789	\N	\N	EFO	2	EFO	protein measurement	granulins measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008141	"quantification of the amount of granulins in a sample" []	1145965	\N	\N	EFO	3	EFO	measurement	granulins measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008141	"quantification of the amount of granulins in a sample" []	2028389	\N	\N	EFO	4	EFO	information entity	granulins measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008141	"quantification of the amount of granulins in a sample" []	3179579	\N	\N	EFO	5	EFO	experimental factor	granulins measurement
EFO:0008142	\N	\N	"quantification of the amount of granulocyte colony-stimulating factor in a sample" []	EFO:0008142	"quantification of the amount of granulocyte colony-stimulating factor in a sample" []	69378	\N	\N	EFO	0	EFO	granulocyte colony-stimulating factor measurement	granulocyte colony-stimulating factor measurement
EFO:0007937	EFO:0008142	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008142	"quantification of the amount of granulocyte colony-stimulating factor in a sample" []	211520	\N	\N	EFO	1	EFO	blood protein measurement	granulocyte colony-stimulating factor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008142	"quantification of the amount of granulocyte colony-stimulating factor in a sample" []	564790	\N	\N	EFO	2	EFO	protein measurement	granulocyte colony-stimulating factor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008142	"quantification of the amount of granulocyte colony-stimulating factor in a sample" []	1145966	\N	\N	EFO	3	EFO	measurement	granulocyte colony-stimulating factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008142	"quantification of the amount of granulocyte colony-stimulating factor in a sample" []	2028390	\N	\N	EFO	4	EFO	information entity	granulocyte colony-stimulating factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008142	"quantification of the amount of granulocyte colony-stimulating factor in a sample" []	3179580	\N	\N	EFO	5	EFO	experimental factor	granulocyte colony-stimulating factor measurement
EFO:0008144	\N	\N	"quantification of the amount of granulysin in a sample" []	EFO:0008144	"quantification of the amount of granulysin in a sample" []	69379	\N	\N	EFO	0	EFO	granulysin measurement	granulysin measurement
EFO:0007937	EFO:0008144	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008144	"quantification of the amount of granulysin in a sample" []	211521	\N	\N	EFO	1	EFO	blood protein measurement	granulysin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008144	"quantification of the amount of granulysin in a sample" []	564791	\N	\N	EFO	2	EFO	protein measurement	granulysin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008144	"quantification of the amount of granulysin in a sample" []	1145967	\N	\N	EFO	3	EFO	measurement	granulysin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008144	"quantification of the amount of granulysin in a sample" []	2028391	\N	\N	EFO	4	EFO	information entity	granulysin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008144	"quantification of the amount of granulysin in a sample" []	3179581	\N	\N	EFO	5	EFO	experimental factor	granulysin measurement
EFO:0008145	\N	\N	"quantification of the amount of granzyme A in a sample" []	EFO:0008145	"quantification of the amount of granzyme A in a sample" []	69380	\N	\N	EFO	0	EFO	granzyme A measurement	granzyme A measurement
EFO:0007937	EFO:0008145	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008145	"quantification of the amount of granzyme A in a sample" []	211522	\N	\N	EFO	1	EFO	blood protein measurement	granzyme A measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008145	"quantification of the amount of granzyme A in a sample" []	564792	\N	\N	EFO	2	EFO	protein measurement	granzyme A measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008145	"quantification of the amount of granzyme A in a sample" []	1145968	\N	\N	EFO	3	EFO	measurement	granzyme A measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008145	"quantification of the amount of granzyme A in a sample" []	2028392	\N	\N	EFO	4	EFO	information entity	granzyme A measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008145	"quantification of the amount of granzyme A in a sample" []	3179582	\N	\N	EFO	5	EFO	experimental factor	granzyme A measurement
EFO:0008146	\N	\N	"quantification of the amount of growth-regulated alpha protein in a sample" []	EFO:0008146	"quantification of the amount of growth-regulated alpha protein in a sample" []	69381	\N	\N	EFO	0	EFO	growth-regulated alpha protein measurement	growth-regulated alpha protein measurement
EFO:0007937	EFO:0008146	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008146	"quantification of the amount of growth-regulated alpha protein in a sample" []	211523	\N	\N	EFO	1	EFO	blood protein measurement	growth-regulated alpha protein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008146	"quantification of the amount of growth-regulated alpha protein in a sample" []	564793	\N	\N	EFO	2	EFO	protein measurement	growth-regulated alpha protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008146	"quantification of the amount of growth-regulated alpha protein in a sample" []	1145969	\N	\N	EFO	3	EFO	measurement	growth-regulated alpha protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008146	"quantification of the amount of growth-regulated alpha protein in a sample" []	2028393	\N	\N	EFO	4	EFO	information entity	growth-regulated alpha protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008146	"quantification of the amount of growth-regulated alpha protein in a sample" []	3179583	\N	\N	EFO	5	EFO	experimental factor	growth-regulated alpha protein measurement
EFO:0008148	\N	\N	"quantification of the amount of hemojuvelin in a sample" []	EFO:0008148	"quantification of the amount of hemojuvelin in a sample" []	69382	\N	\N	EFO	0	EFO	hemojuvelin measurement	hemojuvelin measurement
EFO:0007937	EFO:0008148	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008148	"quantification of the amount of hemojuvelin in a sample" []	211524	\N	\N	EFO	1	EFO	blood protein measurement	hemojuvelin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008148	"quantification of the amount of hemojuvelin in a sample" []	564794	\N	\N	EFO	2	EFO	protein measurement	hemojuvelin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008148	"quantification of the amount of hemojuvelin in a sample" []	1145970	\N	\N	EFO	3	EFO	measurement	hemojuvelin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008148	"quantification of the amount of hemojuvelin in a sample" []	2028394	\N	\N	EFO	4	EFO	information entity	hemojuvelin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008148	"quantification of the amount of hemojuvelin in a sample" []	3179584	\N	\N	EFO	5	EFO	experimental factor	hemojuvelin measurement
EFO:0008149	\N	\N	"quantification of the amount of hemopexin in a sample" []	EFO:0008149	"quantification of the amount of hemopexin in a sample" []	69383	\N	\N	EFO	0	EFO	hemopexin measurement	hemopexin measurement
EFO:0007937	EFO:0008149	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008149	"quantification of the amount of hemopexin in a sample" []	211525	\N	\N	EFO	1	EFO	blood protein measurement	hemopexin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008149	"quantification of the amount of hemopexin in a sample" []	564795	\N	\N	EFO	2	EFO	protein measurement	hemopexin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008149	"quantification of the amount of hemopexin in a sample" []	1145971	\N	\N	EFO	3	EFO	measurement	hemopexin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008149	"quantification of the amount of hemopexin in a sample" []	2028395	\N	\N	EFO	4	EFO	information entity	hemopexin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008149	"quantification of the amount of hemopexin in a sample" []	3179585	\N	\N	EFO	5	EFO	experimental factor	hemopexin measurement
EFO:0008150	\N	\N	"quantification of the amount of heparin cofactor 2 in a sample" []	EFO:0008150	"quantification of the amount of heparin cofactor 2 in a sample" []	69384	\N	\N	EFO	0	EFO	heparin cofactor 2 measurement	heparin cofactor 2 measurement
EFO:0007937	EFO:0008150	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008150	"quantification of the amount of heparin cofactor 2 in a sample" []	211526	\N	\N	EFO	1	EFO	blood protein measurement	heparin cofactor 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008150	"quantification of the amount of heparin cofactor 2 in a sample" []	564796	\N	\N	EFO	2	EFO	protein measurement	heparin cofactor 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008150	"quantification of the amount of heparin cofactor 2 in a sample" []	1145972	\N	\N	EFO	3	EFO	measurement	heparin cofactor 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008150	"quantification of the amount of heparin cofactor 2 in a sample" []	2028396	\N	\N	EFO	4	EFO	information entity	heparin cofactor 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008150	"quantification of the amount of heparin cofactor 2 in a sample" []	3179586	\N	\N	EFO	5	EFO	experimental factor	heparin cofactor 2 measurement
EFO:0008151	\N	\N	"quantification of the amount of hepatitis A virus cellular receptor 2 in a sample" []	EFO:0008151	"quantification of the amount of hepatitis A virus cellular receptor 2 in a sample" []	69385	\N	\N	EFO	0	EFO	hepatitis A virus cellular receptor 2 measurement	hepatitis A virus cellular receptor 2 measurement
EFO:0007937	EFO:0008151	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008151	"quantification of the amount of hepatitis A virus cellular receptor 2 in a sample" []	211527	\N	\N	EFO	1	EFO	blood protein measurement	hepatitis A virus cellular receptor 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008151	"quantification of the amount of hepatitis A virus cellular receptor 2 in a sample" []	564797	\N	\N	EFO	2	EFO	protein measurement	hepatitis A virus cellular receptor 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008151	"quantification of the amount of hepatitis A virus cellular receptor 2 in a sample" []	1145973	\N	\N	EFO	3	EFO	measurement	hepatitis A virus cellular receptor 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008151	"quantification of the amount of hepatitis A virus cellular receptor 2 in a sample" []	2028397	\N	\N	EFO	4	EFO	information entity	hepatitis A virus cellular receptor 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008151	"quantification of the amount of hepatitis A virus cellular receptor 2 in a sample" []	3179587	\N	\N	EFO	5	EFO	experimental factor	hepatitis A virus cellular receptor 2 measurement
EFO:0008152	\N	\N	"quantification of the amount of hepatocyte growth factor activator in a sample" []	EFO:0008152	"quantification of the amount of hepatocyte growth factor activator in a sample" []	69386	\N	\N	EFO	0	EFO	hepatocyte growth factor activator measurement	hepatocyte growth factor activator measurement
EFO:0007937	EFO:0008152	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008152	"quantification of the amount of hepatocyte growth factor activator in a sample" []	211528	\N	\N	EFO	1	EFO	blood protein measurement	hepatocyte growth factor activator measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008152	"quantification of the amount of hepatocyte growth factor activator in a sample" []	564798	\N	\N	EFO	2	EFO	protein measurement	hepatocyte growth factor activator measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008152	"quantification of the amount of hepatocyte growth factor activator in a sample" []	1145974	\N	\N	EFO	3	EFO	measurement	hepatocyte growth factor activator measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008152	"quantification of the amount of hepatocyte growth factor activator in a sample" []	2028398	\N	\N	EFO	4	EFO	information entity	hepatocyte growth factor activator measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008152	"quantification of the amount of hepatocyte growth factor activator in a sample" []	3179588	\N	\N	EFO	5	EFO	experimental factor	hepatocyte growth factor activator measurement
EFO:0008153	\N	\N	"quantification of the amount of hepatocyte growth factor receptor in a sample" []	EFO:0008153	"quantification of the amount of hepatocyte growth factor receptor in a sample" []	69387	\N	\N	EFO	0	EFO	hepatocyte growth factor receptor measurement	hepatocyte growth factor receptor measurement
EFO:0007937	EFO:0008153	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008153	"quantification of the amount of hepatocyte growth factor receptor in a sample" []	211529	\N	\N	EFO	1	EFO	blood protein measurement	hepatocyte growth factor receptor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008153	"quantification of the amount of hepatocyte growth factor receptor in a sample" []	564799	\N	\N	EFO	2	EFO	protein measurement	hepatocyte growth factor receptor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008153	"quantification of the amount of hepatocyte growth factor receptor in a sample" []	1145975	\N	\N	EFO	3	EFO	measurement	hepatocyte growth factor receptor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008153	"quantification of the amount of hepatocyte growth factor receptor in a sample" []	2028399	\N	\N	EFO	4	EFO	information entity	hepatocyte growth factor receptor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008153	"quantification of the amount of hepatocyte growth factor receptor in a sample" []	3179589	\N	\N	EFO	5	EFO	experimental factor	hepatocyte growth factor receptor measurement
EFO:0008154	\N	\N	"quantification of the amount of hepatocyte growth factor-like protein in a sample" []	EFO:0008154	"quantification of the amount of hepatocyte growth factor-like protein in a sample" []	69388	\N	\N	EFO	0	EFO	hepatocyte growth factor-like protein measurement	hepatocyte growth factor-like protein measurement
EFO:0007937	EFO:0008154	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008154	"quantification of the amount of hepatocyte growth factor-like protein in a sample" []	211530	\N	\N	EFO	1	EFO	blood protein measurement	hepatocyte growth factor-like protein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008154	"quantification of the amount of hepatocyte growth factor-like protein in a sample" []	564800	\N	\N	EFO	2	EFO	protein measurement	hepatocyte growth factor-like protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008154	"quantification of the amount of hepatocyte growth factor-like protein in a sample" []	1145976	\N	\N	EFO	3	EFO	measurement	hepatocyte growth factor-like protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008154	"quantification of the amount of hepatocyte growth factor-like protein in a sample" []	2028400	\N	\N	EFO	4	EFO	information entity	hepatocyte growth factor-like protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008154	"quantification of the amount of hepatocyte growth factor-like protein in a sample" []	3179590	\N	\N	EFO	5	EFO	experimental factor	hepatocyte growth factor-like protein measurement
EFO:0008155	\N	\N	"quantification of the amount of histidine-rich glycoprotein in a sample" []	EFO:0008155	"quantification of the amount of histidine-rich glycoprotein in a sample" []	69389	\N	\N	EFO	0	EFO	histidine-rich glycoprotein measurement	histidine-rich glycoprotein measurement
EFO:0007937	EFO:0008155	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008155	"quantification of the amount of histidine-rich glycoprotein in a sample" []	211531	\N	\N	EFO	1	EFO	blood protein measurement	histidine-rich glycoprotein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008155	"quantification of the amount of histidine-rich glycoprotein in a sample" []	564801	\N	\N	EFO	2	EFO	protein measurement	histidine-rich glycoprotein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008155	"quantification of the amount of histidine-rich glycoprotein in a sample" []	1145977	\N	\N	EFO	3	EFO	measurement	histidine-rich glycoprotein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008155	"quantification of the amount of histidine-rich glycoprotein in a sample" []	2028401	\N	\N	EFO	4	EFO	information entity	histidine-rich glycoprotein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008155	"quantification of the amount of histidine-rich glycoprotein in a sample" []	3179591	\N	\N	EFO	5	EFO	experimental factor	histidine-rich glycoprotein measurement
EFO:0008156	\N	\N	"quantification of the amount of human Chorionic Gonadotropin in a sample" []	EFO:0008156	"quantification of the amount of human Chorionic Gonadotropin in a sample" []	69390	\N	\N	EFO	0	EFO	human Chorionic Gonadotropin measurement	human Chorionic Gonadotropin measurement
EFO:0007937	EFO:0008156	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008156	"quantification of the amount of human Chorionic Gonadotropin in a sample" []	211532	\N	\N	EFO	1	EFO	blood protein measurement	human Chorionic Gonadotropin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008156	"quantification of the amount of human Chorionic Gonadotropin in a sample" []	564802	\N	\N	EFO	2	EFO	protein measurement	human Chorionic Gonadotropin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008156	"quantification of the amount of human Chorionic Gonadotropin in a sample" []	1145978	\N	\N	EFO	3	EFO	measurement	human Chorionic Gonadotropin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008156	"quantification of the amount of human Chorionic Gonadotropin in a sample" []	2028402	\N	\N	EFO	4	EFO	information entity	human Chorionic Gonadotropin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008156	"quantification of the amount of human Chorionic Gonadotropin in a sample" []	3179592	\N	\N	EFO	5	EFO	experimental factor	human Chorionic Gonadotropin measurement
EFO:0008157	\N	\N	"quantification of the amount of inorganic pyrophosphatase in a sample" []	EFO:0008157	"quantification of the amount of inorganic pyrophosphatase in a sample" []	69391	\N	\N	EFO	0	EFO	inorganic pyrophosphatase measurement	inorganic pyrophosphatase measurement
EFO:0007937	EFO:0008157	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008157	"quantification of the amount of inorganic pyrophosphatase in a sample" []	211533	\N	\N	EFO	1	EFO	blood protein measurement	inorganic pyrophosphatase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008157	"quantification of the amount of inorganic pyrophosphatase in a sample" []	564803	\N	\N	EFO	2	EFO	protein measurement	inorganic pyrophosphatase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008157	"quantification of the amount of inorganic pyrophosphatase in a sample" []	1145979	\N	\N	EFO	3	EFO	measurement	inorganic pyrophosphatase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008157	"quantification of the amount of inorganic pyrophosphatase in a sample" []	2028403	\N	\N	EFO	4	EFO	information entity	inorganic pyrophosphatase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008157	"quantification of the amount of inorganic pyrophosphatase in a sample" []	3179593	\N	\N	EFO	5	EFO	experimental factor	inorganic pyrophosphatase measurement
EFO:0008158	\N	\N	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 1 in a sample" []	EFO:0008158	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 1 in a sample" []	69392	\N	\N	EFO	0	EFO	inosine-5'-monophosphate dehydrogenase 1 measurement	inosine-5'-monophosphate dehydrogenase 1 measurement
EFO:0007937	EFO:0008158	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008158	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 1 in a sample" []	211534	\N	\N	EFO	1	EFO	blood protein measurement	inosine-5'-monophosphate dehydrogenase 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008158	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 1 in a sample" []	564804	\N	\N	EFO	2	EFO	protein measurement	inosine-5'-monophosphate dehydrogenase 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008158	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 1 in a sample" []	1145980	\N	\N	EFO	3	EFO	measurement	inosine-5'-monophosphate dehydrogenase 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008158	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 1 in a sample" []	2028404	\N	\N	EFO	4	EFO	information entity	inosine-5'-monophosphate dehydrogenase 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008158	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 1 in a sample" []	3179594	\N	\N	EFO	5	EFO	experimental factor	inosine-5'-monophosphate dehydrogenase 1 measurement
EFO:0008159	\N	\N	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 2 in a sample" []	EFO:0008159	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 2 in a sample" []	69393	\N	\N	EFO	0	EFO	inosine-5'-monophosphate dehydrogenase 2 measurement	inosine-5'-monophosphate dehydrogenase 2 measurement
EFO:0007937	EFO:0008159	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008159	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 2 in a sample" []	211535	\N	\N	EFO	1	EFO	blood protein measurement	inosine-5'-monophosphate dehydrogenase 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008159	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 2 in a sample" []	564805	\N	\N	EFO	2	EFO	protein measurement	inosine-5'-monophosphate dehydrogenase 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008159	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 2 in a sample" []	1145981	\N	\N	EFO	3	EFO	measurement	inosine-5'-monophosphate dehydrogenase 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008159	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 2 in a sample" []	2028405	\N	\N	EFO	4	EFO	information entity	inosine-5'-monophosphate dehydrogenase 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008159	"quantification of the amount of inosine-5'-monophosphate dehydrogenase 2 in a sample" []	3179595	\N	\N	EFO	5	EFO	experimental factor	inosine-5'-monophosphate dehydrogenase 2 measurement
EFO:0008160	\N	\N	"quantification of the amount of insulin receptor in a sample" []	EFO:0008160	"quantification of the amount of insulin receptor in a sample" []	69394	\N	\N	EFO	0	EFO	insulin receptor measurement	insulin receptor measurement
EFO:0007937	EFO:0008160	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008160	"quantification of the amount of insulin receptor in a sample" []	211536	\N	\N	EFO	1	EFO	blood protein measurement	insulin receptor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008160	"quantification of the amount of insulin receptor in a sample" []	564806	\N	\N	EFO	2	EFO	protein measurement	insulin receptor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008160	"quantification of the amount of insulin receptor in a sample" []	1145982	\N	\N	EFO	3	EFO	measurement	insulin receptor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008160	"quantification of the amount of insulin receptor in a sample" []	2028406	\N	\N	EFO	4	EFO	information entity	insulin receptor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008160	"quantification of the amount of insulin receptor in a sample" []	3179596	\N	\N	EFO	5	EFO	experimental factor	insulin receptor measurement
EFO:0008161	\N	\N	"quantification of the amount of insulin-like growth factor-binding protein 7 in a sample" []	EFO:0008161	"quantification of the amount of insulin-like growth factor-binding protein 7 in a sample" []	69395	\N	\N	EFO	0	EFO	insulin-like growth factor-binding protein 7 measurement	insulin-like growth factor-binding protein 7 measurement
EFO:0007937	EFO:0008161	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008161	"quantification of the amount of insulin-like growth factor-binding protein 7 in a sample" []	211537	\N	\N	EFO	1	EFO	blood protein measurement	insulin-like growth factor-binding protein 7 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008161	"quantification of the amount of insulin-like growth factor-binding protein 7 in a sample" []	564807	\N	\N	EFO	2	EFO	protein measurement	insulin-like growth factor-binding protein 7 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008161	"quantification of the amount of insulin-like growth factor-binding protein 7 in a sample" []	1145983	\N	\N	EFO	3	EFO	measurement	insulin-like growth factor-binding protein 7 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008161	"quantification of the amount of insulin-like growth factor-binding protein 7 in a sample" []	2028407	\N	\N	EFO	4	EFO	information entity	insulin-like growth factor-binding protein 7 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008161	"quantification of the amount of insulin-like growth factor-binding protein 7 in a sample" []	3179597	\N	\N	EFO	5	EFO	experimental factor	insulin-like growth factor-binding protein 7 measurement
EFO:0008162	\N	\N	"quantification of the amount of integrin alpha-I: beta-1 complex in a sample" []	EFO:0008162	"quantification of the amount of integrin alpha-I: beta-1 complex in a sample" []	69396	\N	\N	EFO	0	EFO	integrin alpha-I: beta-1 complex measurement	integrin alpha-I: beta-1 complex measurement
EFO:0007937	EFO:0008162	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008162	"quantification of the amount of integrin alpha-I: beta-1 complex in a sample" []	211538	\N	\N	EFO	1	EFO	blood protein measurement	integrin alpha-I: beta-1 complex measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008162	"quantification of the amount of integrin alpha-I: beta-1 complex in a sample" []	564808	\N	\N	EFO	2	EFO	protein measurement	integrin alpha-I: beta-1 complex measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008162	"quantification of the amount of integrin alpha-I: beta-1 complex in a sample" []	1145984	\N	\N	EFO	3	EFO	measurement	integrin alpha-I: beta-1 complex measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008162	"quantification of the amount of integrin alpha-I: beta-1 complex in a sample" []	2028408	\N	\N	EFO	4	EFO	information entity	integrin alpha-I: beta-1 complex measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008162	"quantification of the amount of integrin alpha-I: beta-1 complex in a sample" []	3179598	\N	\N	EFO	5	EFO	experimental factor	integrin alpha-I: beta-1 complex measurement
EFO:0008163	\N	\N	"quantification of the amount of intercellular adhesion molecule 2 in a sample" []	EFO:0008163	"quantification of the amount of intercellular adhesion molecule 2 in a sample" []	69397	\N	\N	EFO	0	EFO	intercellular adhesion molecule 2 measurement	intercellular adhesion molecule 2 measurement
EFO:0007937	EFO:0008163	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008163	"quantification of the amount of intercellular adhesion molecule 2 in a sample" []	211539	\N	\N	EFO	1	EFO	blood protein measurement	intercellular adhesion molecule 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008163	"quantification of the amount of intercellular adhesion molecule 2 in a sample" []	564809	\N	\N	EFO	2	EFO	protein measurement	intercellular adhesion molecule 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008163	"quantification of the amount of intercellular adhesion molecule 2 in a sample" []	1145985	\N	\N	EFO	3	EFO	measurement	intercellular adhesion molecule 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008163	"quantification of the amount of intercellular adhesion molecule 2 in a sample" []	2028409	\N	\N	EFO	4	EFO	information entity	intercellular adhesion molecule 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008163	"quantification of the amount of intercellular adhesion molecule 2 in a sample" []	3179599	\N	\N	EFO	5	EFO	experimental factor	intercellular adhesion molecule 2 measurement
EFO:0008164	\N	\N	"quantification of the amount of intercellular adhesion molecule 5 in a sample" []	EFO:0008164	"quantification of the amount of intercellular adhesion molecule 5 in a sample" []	69398	\N	\N	EFO	0	EFO	intercellular adhesion molecule 5 measurement	intercellular adhesion molecule 5 measurement
EFO:0007937	EFO:0008164	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008164	"quantification of the amount of intercellular adhesion molecule 5 in a sample" []	211540	\N	\N	EFO	1	EFO	blood protein measurement	intercellular adhesion molecule 5 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008164	"quantification of the amount of intercellular adhesion molecule 5 in a sample" []	564810	\N	\N	EFO	2	EFO	protein measurement	intercellular adhesion molecule 5 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008164	"quantification of the amount of intercellular adhesion molecule 5 in a sample" []	1145986	\N	\N	EFO	3	EFO	measurement	intercellular adhesion molecule 5 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008164	"quantification of the amount of intercellular adhesion molecule 5 in a sample" []	2028410	\N	\N	EFO	4	EFO	information entity	intercellular adhesion molecule 5 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008164	"quantification of the amount of intercellular adhesion molecule 5 in a sample" []	3179600	\N	\N	EFO	5	EFO	experimental factor	intercellular adhesion molecule 5 measurement
EFO:0008165	\N	\N	"quantification of the amount of interferon gamma in a sample" []	EFO:0008165	"quantification of the amount of interferon gamma in a sample" []	69399	\N	\N	EFO	0	EFO	interferon gamma measurement	interferon gamma measurement
EFO:0007937	EFO:0008165	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008165	"quantification of the amount of interferon gamma in a sample" []	211541	\N	\N	EFO	1	EFO	blood protein measurement	interferon gamma measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008165	"quantification of the amount of interferon gamma in a sample" []	564811	\N	\N	EFO	2	EFO	protein measurement	interferon gamma measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008165	"quantification of the amount of interferon gamma in a sample" []	1145987	\N	\N	EFO	3	EFO	measurement	interferon gamma measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008165	"quantification of the amount of interferon gamma in a sample" []	2028411	\N	\N	EFO	4	EFO	information entity	interferon gamma measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008165	"quantification of the amount of interferon gamma in a sample" []	3179601	\N	\N	EFO	5	EFO	experimental factor	interferon gamma measurement
EFO:0008166	\N	\N	"quantification of the amount of interleukin 1 beta in a sample" []	EFO:0008166	"quantification of the amount of interleukin 1 beta in a sample" []	69400	\N	\N	EFO	0	EFO	interleukin 1 beta measurement	interleukin 1 beta measurement
EFO:0007937	EFO:0008166	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008166	"quantification of the amount of interleukin 1 beta in a sample" []	211542	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 1 beta measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008166	"quantification of the amount of interleukin 1 beta in a sample" []	564812	\N	\N	EFO	2	EFO	protein measurement	interleukin 1 beta measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008166	"quantification of the amount of interleukin 1 beta in a sample" []	1145988	\N	\N	EFO	3	EFO	measurement	interleukin 1 beta measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008166	"quantification of the amount of interleukin 1 beta in a sample" []	2028412	\N	\N	EFO	4	EFO	information entity	interleukin 1 beta measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008166	"quantification of the amount of interleukin 1 beta in a sample" []	3179602	\N	\N	EFO	5	EFO	experimental factor	interleukin 1 beta measurement
EFO:0008167	\N	\N	"quantification of the amount of interleukin 1 Receptor accessory protein in a sample" []	EFO:0008167	"quantification of the amount of interleukin 1 Receptor accessory protein in a sample" []	69401	\N	\N	EFO	0	EFO	interleukin 1 Receptor accessory protein measurement	interleukin 1 Receptor accessory protein measurement
EFO:0007937	EFO:0008167	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008167	"quantification of the amount of interleukin 1 Receptor accessory protein in a sample" []	211543	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 1 Receptor accessory protein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008167	"quantification of the amount of interleukin 1 Receptor accessory protein in a sample" []	564813	\N	\N	EFO	2	EFO	protein measurement	interleukin 1 Receptor accessory protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008167	"quantification of the amount of interleukin 1 Receptor accessory protein in a sample" []	1145989	\N	\N	EFO	3	EFO	measurement	interleukin 1 Receptor accessory protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008167	"quantification of the amount of interleukin 1 Receptor accessory protein in a sample" []	2028413	\N	\N	EFO	4	EFO	information entity	interleukin 1 Receptor accessory protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008167	"quantification of the amount of interleukin 1 Receptor accessory protein in a sample" []	3179603	\N	\N	EFO	5	EFO	experimental factor	interleukin 1 Receptor accessory protein measurement
EFO:0008168	\N	\N	"quantification of the amount of interleukin 1 receptor-like 1 in a sample" []	EFO:0008168	"quantification of the amount of interleukin 1 receptor-like 1 in a sample" []	69402	\N	\N	EFO	0	EFO	interleukin 1 receptor-like 1 measurement	interleukin 1 receptor-like 1 measurement
EFO:0007937	EFO:0008168	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008168	"quantification of the amount of interleukin 1 receptor-like 1 in a sample" []	211544	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 1 receptor-like 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008168	"quantification of the amount of interleukin 1 receptor-like 1 in a sample" []	564814	\N	\N	EFO	2	EFO	protein measurement	interleukin 1 receptor-like 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008168	"quantification of the amount of interleukin 1 receptor-like 1 in a sample" []	1145990	\N	\N	EFO	3	EFO	measurement	interleukin 1 receptor-like 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008168	"quantification of the amount of interleukin 1 receptor-like 1 in a sample" []	2028414	\N	\N	EFO	4	EFO	information entity	interleukin 1 receptor-like 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008168	"quantification of the amount of interleukin 1 receptor-like 1 in a sample" []	3179604	\N	\N	EFO	5	EFO	experimental factor	interleukin 1 receptor-like 1 measurement
EFO:0008169	\N	\N	"quantification of the amount of interleukin 1 receptor-like 2 in a sample" []	EFO:0008169	"quantification of the amount of interleukin 1 receptor-like 2 in a sample" []	69403	\N	\N	EFO	0	EFO	interleukin 1 receptor-like 2 measurement	interleukin 1 receptor-like 2 measurement
EFO:0007937	EFO:0008169	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008169	"quantification of the amount of interleukin 1 receptor-like 2 in a sample" []	211545	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 1 receptor-like 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008169	"quantification of the amount of interleukin 1 receptor-like 2 in a sample" []	564815	\N	\N	EFO	2	EFO	protein measurement	interleukin 1 receptor-like 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008169	"quantification of the amount of interleukin 1 receptor-like 2 in a sample" []	1145991	\N	\N	EFO	3	EFO	measurement	interleukin 1 receptor-like 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008169	"quantification of the amount of interleukin 1 receptor-like 2 in a sample" []	2028415	\N	\N	EFO	4	EFO	information entity	interleukin 1 receptor-like 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008169	"quantification of the amount of interleukin 1 receptor-like 2 in a sample" []	3179605	\N	\N	EFO	5	EFO	experimental factor	interleukin 1 receptor-like 2 measurement
EFO:0008170	\N	\N	"quantification of the amount of interleukin 12 receptor subunit beta-1 in a sample" []	EFO:0008170	"quantification of the amount of interleukin 12 receptor subunit beta-1 in a sample" []	69404	\N	\N	EFO	0	EFO	interleukin 12 receptor subunit beta-1 measurement	interleukin 12 receptor subunit beta-1 measurement
EFO:0007937	EFO:0008170	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008170	"quantification of the amount of interleukin 12 receptor subunit beta-1 in a sample" []	211546	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 12 receptor subunit beta-1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008170	"quantification of the amount of interleukin 12 receptor subunit beta-1 in a sample" []	564816	\N	\N	EFO	2	EFO	protein measurement	interleukin 12 receptor subunit beta-1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008170	"quantification of the amount of interleukin 12 receptor subunit beta-1 in a sample" []	1145992	\N	\N	EFO	3	EFO	measurement	interleukin 12 receptor subunit beta-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008170	"quantification of the amount of interleukin 12 receptor subunit beta-1 in a sample" []	2028416	\N	\N	EFO	4	EFO	information entity	interleukin 12 receptor subunit beta-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008170	"quantification of the amount of interleukin 12 receptor subunit beta-1 in a sample" []	3179606	\N	\N	EFO	5	EFO	experimental factor	interleukin 12 receptor subunit beta-1 measurement
EFO:0008171	\N	\N	"quantification of the amount of interleukin 13 in a sample" []	EFO:0008171	"quantification of the amount of interleukin 13 in a sample" []	69405	\N	\N	EFO	0	EFO	interleukin 13 measurement	interleukin 13 measurement
EFO:0007937	EFO:0008171	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008171	"quantification of the amount of interleukin 13 in a sample" []	211547	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 13 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008171	"quantification of the amount of interleukin 13 in a sample" []	564817	\N	\N	EFO	2	EFO	protein measurement	interleukin 13 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008171	"quantification of the amount of interleukin 13 in a sample" []	1145993	\N	\N	EFO	3	EFO	measurement	interleukin 13 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008171	"quantification of the amount of interleukin 13 in a sample" []	2028417	\N	\N	EFO	4	EFO	information entity	interleukin 13 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008171	"quantification of the amount of interleukin 13 in a sample" []	3179607	\N	\N	EFO	5	EFO	experimental factor	interleukin 13 measurement
EFO:0008172	\N	\N	"quantification of the amount of interleukin 15 receptor subunit alpha in a sample" []	EFO:0008172	"quantification of the amount of interleukin 15 receptor subunit alpha in a sample" []	69406	\N	\N	EFO	0	EFO	interleukin 15 receptor subunit alpha measurement	interleukin 15 receptor subunit alpha measurement
EFO:0007937	EFO:0008172	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008172	"quantification of the amount of interleukin 15 receptor subunit alpha in a sample" []	211548	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 15 receptor subunit alpha measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008172	"quantification of the amount of interleukin 15 receptor subunit alpha in a sample" []	564818	\N	\N	EFO	2	EFO	protein measurement	interleukin 15 receptor subunit alpha measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008172	"quantification of the amount of interleukin 15 receptor subunit alpha in a sample" []	1145994	\N	\N	EFO	3	EFO	measurement	interleukin 15 receptor subunit alpha measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008172	"quantification of the amount of interleukin 15 receptor subunit alpha in a sample" []	2028418	\N	\N	EFO	4	EFO	information entity	interleukin 15 receptor subunit alpha measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008172	"quantification of the amount of interleukin 15 receptor subunit alpha in a sample" []	3179608	\N	\N	EFO	5	EFO	experimental factor	interleukin 15 receptor subunit alpha measurement
EFO:0008173	\N	\N	"quantification of the amount of interleukin 16 in a sample" []	EFO:0008173	"quantification of the amount of interleukin 16 in a sample" []	69407	\N	\N	EFO	0	EFO	interleukin 16 measurement	interleukin 16 measurement
EFO:0007937	EFO:0008173	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008173	"quantification of the amount of interleukin 16 in a sample" []	211549	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 16 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008173	"quantification of the amount of interleukin 16 in a sample" []	564819	\N	\N	EFO	2	EFO	protein measurement	interleukin 16 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008173	"quantification of the amount of interleukin 16 in a sample" []	1145995	\N	\N	EFO	3	EFO	measurement	interleukin 16 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008173	"quantification of the amount of interleukin 16 in a sample" []	2028419	\N	\N	EFO	4	EFO	information entity	interleukin 16 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008173	"quantification of the amount of interleukin 16 in a sample" []	3179609	\N	\N	EFO	5	EFO	experimental factor	interleukin 16 measurement
EFO:0008174	\N	\N	"quantification of the amount of interleukin 17 in a sample" []	EFO:0008174	"quantification of the amount of interleukin 17 in a sample" []	69408	\N	\N	EFO	0	EFO	interleukin 17 measurement	interleukin 17 measurement
EFO:0007937	EFO:0008174	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008174	"quantification of the amount of interleukin 17 in a sample" []	211550	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 17 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008174	"quantification of the amount of interleukin 17 in a sample" []	564820	\N	\N	EFO	2	EFO	protein measurement	interleukin 17 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008174	"quantification of the amount of interleukin 17 in a sample" []	1145996	\N	\N	EFO	3	EFO	measurement	interleukin 17 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008174	"quantification of the amount of interleukin 17 in a sample" []	2028420	\N	\N	EFO	4	EFO	information entity	interleukin 17 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008174	"quantification of the amount of interleukin 17 in a sample" []	3179610	\N	\N	EFO	5	EFO	experimental factor	interleukin 17 measurement
EFO:0008175	\N	\N	"quantification of the amount of interleukin 17 receptor A in a sample" []	EFO:0008175	"quantification of the amount of interleukin 17 receptor A in a sample" []	69409	\N	\N	EFO	0	EFO	interleukin 17 receptor A measurement	interleukin 17 receptor A measurement
EFO:0007937	EFO:0008175	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008175	"quantification of the amount of interleukin 17 receptor A in a sample" []	211551	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 17 receptor A measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008175	"quantification of the amount of interleukin 17 receptor A in a sample" []	564821	\N	\N	EFO	2	EFO	protein measurement	interleukin 17 receptor A measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008175	"quantification of the amount of interleukin 17 receptor A in a sample" []	1145997	\N	\N	EFO	3	EFO	measurement	interleukin 17 receptor A measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008175	"quantification of the amount of interleukin 17 receptor A in a sample" []	2028421	\N	\N	EFO	4	EFO	information entity	interleukin 17 receptor A measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008175	"quantification of the amount of interleukin 17 receptor A in a sample" []	3179611	\N	\N	EFO	5	EFO	experimental factor	interleukin 17 receptor A measurement
EFO:0008176	\N	\N	"quantification of the amount of interleukin 17 receptor B in a sample" []	EFO:0008176	"quantification of the amount of interleukin 17 receptor B in a sample" []	69410	\N	\N	EFO	0	EFO	interleukin 17 receptor B measurement	interleukin 17 receptor B measurement
EFO:0007937	EFO:0008176	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008176	"quantification of the amount of interleukin 17 receptor B in a sample" []	211552	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 17 receptor B measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008176	"quantification of the amount of interleukin 17 receptor B in a sample" []	564822	\N	\N	EFO	2	EFO	protein measurement	interleukin 17 receptor B measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008176	"quantification of the amount of interleukin 17 receptor B in a sample" []	1145998	\N	\N	EFO	3	EFO	measurement	interleukin 17 receptor B measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008176	"quantification of the amount of interleukin 17 receptor B in a sample" []	2028422	\N	\N	EFO	4	EFO	information entity	interleukin 17 receptor B measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008176	"quantification of the amount of interleukin 17 receptor B in a sample" []	3179612	\N	\N	EFO	5	EFO	experimental factor	interleukin 17 receptor B measurement
EFO:0008177	\N	\N	"quantification of the amount of interleukin 17 receptor D in a sample" []	EFO:0008177	"quantification of the amount of interleukin 17 receptor D in a sample" []	69411	\N	\N	EFO	0	EFO	interleukin 17 receptor D measurement	interleukin 17 receptor D measurement
EFO:0007937	EFO:0008177	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008177	"quantification of the amount of interleukin 17 receptor D in a sample" []	211553	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 17 receptor D measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008177	"quantification of the amount of interleukin 17 receptor D in a sample" []	564823	\N	\N	EFO	2	EFO	protein measurement	interleukin 17 receptor D measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008177	"quantification of the amount of interleukin 17 receptor D in a sample" []	1145999	\N	\N	EFO	3	EFO	measurement	interleukin 17 receptor D measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008177	"quantification of the amount of interleukin 17 receptor D in a sample" []	2028423	\N	\N	EFO	4	EFO	information entity	interleukin 17 receptor D measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008177	"quantification of the amount of interleukin 17 receptor D in a sample" []	3179613	\N	\N	EFO	5	EFO	experimental factor	interleukin 17 receptor D measurement
EFO:0008178	\N	\N	"quantification of the amount of interleukin 18 receptor 1 in a sample" []	EFO:0008178	"quantification of the amount of interleukin 18 receptor 1 in a sample" []	69412	\N	\N	EFO	0	EFO	interleukin 18 receptor 1 measurement	interleukin 18 receptor 1 measurement
EFO:0007937	EFO:0008178	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008178	"quantification of the amount of interleukin 18 receptor 1 in a sample" []	211554	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 18 receptor 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008178	"quantification of the amount of interleukin 18 receptor 1 in a sample" []	564824	\N	\N	EFO	2	EFO	protein measurement	interleukin 18 receptor 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008178	"quantification of the amount of interleukin 18 receptor 1 in a sample" []	1146000	\N	\N	EFO	3	EFO	measurement	interleukin 18 receptor 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008178	"quantification of the amount of interleukin 18 receptor 1 in a sample" []	2028424	\N	\N	EFO	4	EFO	information entity	interleukin 18 receptor 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008178	"quantification of the amount of interleukin 18 receptor 1 in a sample" []	3179614	\N	\N	EFO	5	EFO	experimental factor	interleukin 18 receptor 1 measurement
EFO:0008179	\N	\N	"quantification of the amount of interleukin 18 receptor accessory protein in a sample" []	EFO:0008179	"quantification of the amount of interleukin 18 receptor accessory protein in a sample" []	69413	\N	\N	EFO	0	EFO	interleukin 18 receptor accessory protein measurement	interleukin 18 receptor accessory protein measurement
EFO:0007937	EFO:0008179	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008179	"quantification of the amount of interleukin 18 receptor accessory protein in a sample" []	211555	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 18 receptor accessory protein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008179	"quantification of the amount of interleukin 18 receptor accessory protein in a sample" []	564825	\N	\N	EFO	2	EFO	protein measurement	interleukin 18 receptor accessory protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008179	"quantification of the amount of interleukin 18 receptor accessory protein in a sample" []	1146001	\N	\N	EFO	3	EFO	measurement	interleukin 18 receptor accessory protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008179	"quantification of the amount of interleukin 18 receptor accessory protein in a sample" []	2028425	\N	\N	EFO	4	EFO	information entity	interleukin 18 receptor accessory protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008179	"quantification of the amount of interleukin 18 receptor accessory protein in a sample" []	3179615	\N	\N	EFO	5	EFO	experimental factor	interleukin 18 receptor accessory protein measurement
EFO:0008180	\N	\N	"quantification of the amount of interleukin 19 in a sample" []	EFO:0008180	"quantification of the amount of interleukin 19 in a sample" []	69414	\N	\N	EFO	0	EFO	interleukin 19 measurement	interleukin 19 measurement
EFO:0007937	EFO:0008180	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008180	"quantification of the amount of interleukin 19 in a sample" []	211556	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 19 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008180	"quantification of the amount of interleukin 19 in a sample" []	564826	\N	\N	EFO	2	EFO	protein measurement	interleukin 19 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008180	"quantification of the amount of interleukin 19 in a sample" []	1146002	\N	\N	EFO	3	EFO	measurement	interleukin 19 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008180	"quantification of the amount of interleukin 19 in a sample" []	2028426	\N	\N	EFO	4	EFO	information entity	interleukin 19 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008180	"quantification of the amount of interleukin 19 in a sample" []	3179616	\N	\N	EFO	5	EFO	experimental factor	interleukin 19 measurement
EFO:0008181	\N	\N	"quantification of the amount of interleukin 23 receptor in a sample" []	EFO:0008181	"quantification of the amount of interleukin 23 receptor in a sample" []	69415	\N	\N	EFO	0	EFO	interleukin 23 receptor measurement	interleukin 23 receptor measurement
EFO:0007937	EFO:0008181	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008181	"quantification of the amount of interleukin 23 receptor in a sample" []	211557	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 23 receptor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008181	"quantification of the amount of interleukin 23 receptor in a sample" []	564827	\N	\N	EFO	2	EFO	protein measurement	interleukin 23 receptor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008181	"quantification of the amount of interleukin 23 receptor in a sample" []	1146003	\N	\N	EFO	3	EFO	measurement	interleukin 23 receptor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008181	"quantification of the amount of interleukin 23 receptor in a sample" []	2028427	\N	\N	EFO	4	EFO	information entity	interleukin 23 receptor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008181	"quantification of the amount of interleukin 23 receptor in a sample" []	3179617	\N	\N	EFO	5	EFO	experimental factor	interleukin 23 receptor measurement
EFO:0008182	\N	\N	"quantification of the amount of interleukin 25 in a sample" []	EFO:0008182	"quantification of the amount of interleukin 25 in a sample" []	69416	\N	\N	EFO	0	EFO	interleukin 25 measurement	interleukin 25 measurement
EFO:0007937	EFO:0008182	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008182	"quantification of the amount of interleukin 25 in a sample" []	211558	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 25 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008182	"quantification of the amount of interleukin 25 in a sample" []	564828	\N	\N	EFO	2	EFO	protein measurement	interleukin 25 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008182	"quantification of the amount of interleukin 25 in a sample" []	1146004	\N	\N	EFO	3	EFO	measurement	interleukin 25 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008182	"quantification of the amount of interleukin 25 in a sample" []	2028428	\N	\N	EFO	4	EFO	information entity	interleukin 25 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008182	"quantification of the amount of interleukin 25 in a sample" []	3179618	\N	\N	EFO	5	EFO	experimental factor	interleukin 25 measurement
EFO:0008183	\N	\N	"quantification of the amount of interleukin 27 receptor subunit alpha in a sample" []	EFO:0008183	"quantification of the amount of interleukin 27 receptor subunit alpha in a sample" []	69417	\N	\N	EFO	0	EFO	interleukin 27 receptor subunit alpha measurement	interleukin 27 receptor subunit alpha measurement
EFO:0007937	EFO:0008183	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008183	"quantification of the amount of interleukin 27 receptor subunit alpha in a sample" []	211559	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 27 receptor subunit alpha measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008183	"quantification of the amount of interleukin 27 receptor subunit alpha in a sample" []	564829	\N	\N	EFO	2	EFO	protein measurement	interleukin 27 receptor subunit alpha measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008183	"quantification of the amount of interleukin 27 receptor subunit alpha in a sample" []	1146005	\N	\N	EFO	3	EFO	measurement	interleukin 27 receptor subunit alpha measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008183	"quantification of the amount of interleukin 27 receptor subunit alpha in a sample" []	2028429	\N	\N	EFO	4	EFO	information entity	interleukin 27 receptor subunit alpha measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008183	"quantification of the amount of interleukin 27 receptor subunit alpha in a sample" []	3179619	\N	\N	EFO	5	EFO	experimental factor	interleukin 27 receptor subunit alpha measurement
EFO:0008184	\N	\N	"quantification of the amount of interleukin 4 in a sample" []	EFO:0008184	"quantification of the amount of interleukin 4 in a sample" []	69418	\N	\N	EFO	0	EFO	interleukin 4 measurement	interleukin 4 measurement
EFO:0007937	EFO:0008184	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008184	"quantification of the amount of interleukin 4 in a sample" []	211560	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 4 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008184	"quantification of the amount of interleukin 4 in a sample" []	564830	\N	\N	EFO	2	EFO	protein measurement	interleukin 4 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008184	"quantification of the amount of interleukin 4 in a sample" []	1146006	\N	\N	EFO	3	EFO	measurement	interleukin 4 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008184	"quantification of the amount of interleukin 4 in a sample" []	2028430	\N	\N	EFO	4	EFO	information entity	interleukin 4 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008184	"quantification of the amount of interleukin 4 in a sample" []	3179620	\N	\N	EFO	5	EFO	experimental factor	interleukin 4 measurement
EFO:0008185	\N	\N	"quantification of the amount of interleukin 5 in a sample" []	EFO:0008185	"quantification of the amount of interleukin 5 in a sample" []	69419	\N	\N	EFO	0	EFO	interleukin 5 measurement	interleukin 5 measurement
EFO:0007937	EFO:0008185	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008185	"quantification of the amount of interleukin 5 in a sample" []	211561	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 5 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008185	"quantification of the amount of interleukin 5 in a sample" []	564831	\N	\N	EFO	2	EFO	protein measurement	interleukin 5 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008185	"quantification of the amount of interleukin 5 in a sample" []	1146007	\N	\N	EFO	3	EFO	measurement	interleukin 5 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008185	"quantification of the amount of interleukin 5 in a sample" []	2028431	\N	\N	EFO	4	EFO	information entity	interleukin 5 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008185	"quantification of the amount of interleukin 5 in a sample" []	3179621	\N	\N	EFO	5	EFO	experimental factor	interleukin 5 measurement
EFO:0008186	\N	\N	"quantification of the amount of interleukin 5 receptor subunit alpha in a sample" []	EFO:0008186	"quantification of the amount of interleukin 5 receptor subunit alpha in a sample" []	69420	\N	\N	EFO	0	EFO	interleukin 5 receptor subunit alpha measurement	interleukin 5 receptor subunit alpha measurement
EFO:0007937	EFO:0008186	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008186	"quantification of the amount of interleukin 5 receptor subunit alpha in a sample" []	211562	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 5 receptor subunit alpha measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008186	"quantification of the amount of interleukin 5 receptor subunit alpha in a sample" []	564832	\N	\N	EFO	2	EFO	protein measurement	interleukin 5 receptor subunit alpha measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008186	"quantification of the amount of interleukin 5 receptor subunit alpha in a sample" []	1146008	\N	\N	EFO	3	EFO	measurement	interleukin 5 receptor subunit alpha measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008186	"quantification of the amount of interleukin 5 receptor subunit alpha in a sample" []	2028432	\N	\N	EFO	4	EFO	information entity	interleukin 5 receptor subunit alpha measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008186	"quantification of the amount of interleukin 5 receptor subunit alpha in a sample" []	3179622	\N	\N	EFO	5	EFO	experimental factor	interleukin 5 receptor subunit alpha measurement
EFO:0008187	\N	\N	"quantification of the amount of interleukin 6 receptor subunit alpha in a sample" []	EFO:0008187	"quantification of the amount of interleukin 6 receptor subunit alpha in a sample" []	69421	\N	\N	EFO	0	EFO	interleukin 6 receptor subunit alpha measurement	interleukin 6 receptor subunit alpha measurement
EFO:0007937	EFO:0008187	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008187	"quantification of the amount of interleukin 6 receptor subunit alpha in a sample" []	211563	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 6 receptor subunit alpha measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008187	"quantification of the amount of interleukin 6 receptor subunit alpha in a sample" []	564833	\N	\N	EFO	2	EFO	protein measurement	interleukin 6 receptor subunit alpha measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008187	"quantification of the amount of interleukin 6 receptor subunit alpha in a sample" []	1146009	\N	\N	EFO	3	EFO	measurement	interleukin 6 receptor subunit alpha measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008187	"quantification of the amount of interleukin 6 receptor subunit alpha in a sample" []	2028433	\N	\N	EFO	4	EFO	information entity	interleukin 6 receptor subunit alpha measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008187	"quantification of the amount of interleukin 6 receptor subunit alpha in a sample" []	3179623	\N	\N	EFO	5	EFO	experimental factor	interleukin 6 receptor subunit alpha measurement
EFO:0008188	\N	\N	"quantification of the amount of interleukin 6 receptor subunit beta in a sample" []	EFO:0008188	"quantification of the amount of interleukin 6 receptor subunit beta in a sample" []	69422	\N	\N	EFO	0	EFO	interleukin 6 receptor subunit beta measurement	interleukin 6 receptor subunit beta measurement
EFO:0007937	EFO:0008188	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008188	"quantification of the amount of interleukin 6 receptor subunit beta in a sample" []	211564	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 6 receptor subunit beta measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008188	"quantification of the amount of interleukin 6 receptor subunit beta in a sample" []	564834	\N	\N	EFO	2	EFO	protein measurement	interleukin 6 receptor subunit beta measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008188	"quantification of the amount of interleukin 6 receptor subunit beta in a sample" []	1146010	\N	\N	EFO	3	EFO	measurement	interleukin 6 receptor subunit beta measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008188	"quantification of the amount of interleukin 6 receptor subunit beta in a sample" []	2028434	\N	\N	EFO	4	EFO	information entity	interleukin 6 receptor subunit beta measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008188	"quantification of the amount of interleukin 6 receptor subunit beta in a sample" []	3179624	\N	\N	EFO	5	EFO	experimental factor	interleukin 6 receptor subunit beta measurement
EFO:0008189	\N	\N	"quantification of the amount of interleukin 7 in a sample" []	EFO:0008189	"quantification of the amount of interleukin 7 in a sample" []	69423	\N	\N	EFO	0	EFO	interleukin 7 measurement	interleukin 7 measurement
EFO:0007937	EFO:0008189	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008189	"quantification of the amount of interleukin 7 in a sample" []	211565	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 7 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008189	"quantification of the amount of interleukin 7 in a sample" []	564835	\N	\N	EFO	2	EFO	protein measurement	interleukin 7 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008189	"quantification of the amount of interleukin 7 in a sample" []	1146011	\N	\N	EFO	3	EFO	measurement	interleukin 7 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008189	"quantification of the amount of interleukin 7 in a sample" []	2028435	\N	\N	EFO	4	EFO	information entity	interleukin 7 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008189	"quantification of the amount of interleukin 7 in a sample" []	3179625	\N	\N	EFO	5	EFO	experimental factor	interleukin 7 measurement
EFO:0008190	\N	\N	"quantification of the amount of interleukin 7 receptor subunit alpha in a sample" []	EFO:0008190	"quantification of the amount of interleukin 7 receptor subunit alpha in a sample" []	69424	\N	\N	EFO	0	EFO	interleukin 7 receptor subunit alpha measurement	interleukin 7 receptor subunit alpha measurement
EFO:0007937	EFO:0008190	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008190	"quantification of the amount of interleukin 7 receptor subunit alpha in a sample" []	211566	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 7 receptor subunit alpha measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008190	"quantification of the amount of interleukin 7 receptor subunit alpha in a sample" []	564836	\N	\N	EFO	2	EFO	protein measurement	interleukin 7 receptor subunit alpha measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008190	"quantification of the amount of interleukin 7 receptor subunit alpha in a sample" []	1146012	\N	\N	EFO	3	EFO	measurement	interleukin 7 receptor subunit alpha measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008190	"quantification of the amount of interleukin 7 receptor subunit alpha in a sample" []	2028436	\N	\N	EFO	4	EFO	information entity	interleukin 7 receptor subunit alpha measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008190	"quantification of the amount of interleukin 7 receptor subunit alpha in a sample" []	3179626	\N	\N	EFO	5	EFO	experimental factor	interleukin 7 receptor subunit alpha measurement
EFO:0008191	\N	\N	"quantification of the amount of interleukin 8 in a sample" []	EFO:0008191	"quantification of the amount of interleukin 8 in a sample" []	69425	\N	\N	EFO	0	EFO	interleukin 8 measurement	interleukin 8 measurement
EFO:0007937	EFO:0008191	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008191	"quantification of the amount of interleukin 8 in a sample" []	211567	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 8 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008191	"quantification of the amount of interleukin 8 in a sample" []	564837	\N	\N	EFO	2	EFO	protein measurement	interleukin 8 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008191	"quantification of the amount of interleukin 8 in a sample" []	1146013	\N	\N	EFO	3	EFO	measurement	interleukin 8 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008191	"quantification of the amount of interleukin 8 in a sample" []	2028437	\N	\N	EFO	4	EFO	information entity	interleukin 8 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008191	"quantification of the amount of interleukin 8 in a sample" []	3179627	\N	\N	EFO	5	EFO	experimental factor	interleukin 8 measurement
EFO:0008192	\N	\N	"quantification of the amount of interleukin 9 in a sample" []	EFO:0008192	"quantification of the amount of interleukin 9 in a sample" []	69426	\N	\N	EFO	0	EFO	interleukin 9 measurement	interleukin 9 measurement
EFO:0007937	EFO:0008192	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008192	"quantification of the amount of interleukin 9 in a sample" []	211568	\N	\N	EFO	1	EFO	blood protein measurement	interleukin 9 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008192	"quantification of the amount of interleukin 9 in a sample" []	564838	\N	\N	EFO	2	EFO	protein measurement	interleukin 9 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008192	"quantification of the amount of interleukin 9 in a sample" []	1146014	\N	\N	EFO	3	EFO	measurement	interleukin 9 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008192	"quantification of the amount of interleukin 9 in a sample" []	2028438	\N	\N	EFO	4	EFO	information entity	interleukin 9 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008192	"quantification of the amount of interleukin 9 in a sample" []	3179628	\N	\N	EFO	5	EFO	experimental factor	interleukin 9 measurement
EFO:0008193	\N	\N	"quantification of the amount of interstitial collagenase in a sample" []	EFO:0008193	"quantification of the amount of interstitial collagenase in a sample" []	69427	\N	\N	EFO	0	EFO	interstitial collagenase measurement	interstitial collagenase measurement
EFO:0007937	EFO:0008193	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008193	"quantification of the amount of interstitial collagenase in a sample" []	211569	\N	\N	EFO	1	EFO	blood protein measurement	interstitial collagenase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008193	"quantification of the amount of interstitial collagenase in a sample" []	564839	\N	\N	EFO	2	EFO	protein measurement	interstitial collagenase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008193	"quantification of the amount of interstitial collagenase in a sample" []	1146015	\N	\N	EFO	3	EFO	measurement	interstitial collagenase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008193	"quantification of the amount of interstitial collagenase in a sample" []	2028439	\N	\N	EFO	4	EFO	information entity	interstitial collagenase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008193	"quantification of the amount of interstitial collagenase in a sample" []	3179629	\N	\N	EFO	5	EFO	experimental factor	interstitial collagenase measurement
EFO:0008194	\N	\N	"quantification of the amount of kallikrein-12 in a sample" []	EFO:0008194	"quantification of the amount of kallikrein-12 in a sample" []	69428	\N	\N	EFO	0	EFO	kallikrein-12 measurement	kallikrein-12 measurement
EFO:0007937	EFO:0008194	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008194	"quantification of the amount of kallikrein-12 in a sample" []	211570	\N	\N	EFO	1	EFO	blood protein measurement	kallikrein-12 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008194	"quantification of the amount of kallikrein-12 in a sample" []	564840	\N	\N	EFO	2	EFO	protein measurement	kallikrein-12 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008194	"quantification of the amount of kallikrein-12 in a sample" []	1146016	\N	\N	EFO	3	EFO	measurement	kallikrein-12 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008194	"quantification of the amount of kallikrein-12 in a sample" []	2028440	\N	\N	EFO	4	EFO	information entity	kallikrein-12 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008194	"quantification of the amount of kallikrein-12 in a sample" []	3179630	\N	\N	EFO	5	EFO	experimental factor	kallikrein-12 measurement
EFO:0008195	\N	\N	"quantification of the amount of kallikrein-7 in a sample" []	EFO:0008195	"quantification of the amount of kallikrein-7 in a sample" []	69429	\N	\N	EFO	0	EFO	kallikrein-7 measurement	kallikrein-7 measurement
EFO:0007937	EFO:0008195	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008195	"quantification of the amount of kallikrein-7 in a sample" []	211571	\N	\N	EFO	1	EFO	blood protein measurement	kallikrein-7 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008195	"quantification of the amount of kallikrein-7 in a sample" []	564841	\N	\N	EFO	2	EFO	protein measurement	kallikrein-7 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008195	"quantification of the amount of kallikrein-7 in a sample" []	1146017	\N	\N	EFO	3	EFO	measurement	kallikrein-7 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008195	"quantification of the amount of kallikrein-7 in a sample" []	2028441	\N	\N	EFO	4	EFO	information entity	kallikrein-7 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008195	"quantification of the amount of kallikrein-7 in a sample" []	3179631	\N	\N	EFO	5	EFO	experimental factor	kallikrein-7 measurement
EFO:0008196	\N	\N	"quantification of the amount of kallistatin in a sample" []	EFO:0008196	"quantification of the amount of kallistatin in a sample" []	69430	\N	\N	EFO	0	EFO	kallistatin measurement	kallistatin measurement
EFO:0007937	EFO:0008196	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008196	"quantification of the amount of kallistatin in a sample" []	211572	\N	\N	EFO	1	EFO	blood protein measurement	kallistatin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008196	"quantification of the amount of kallistatin in a sample" []	564842	\N	\N	EFO	2	EFO	protein measurement	kallistatin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008196	"quantification of the amount of kallistatin in a sample" []	1146018	\N	\N	EFO	3	EFO	measurement	kallistatin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008196	"quantification of the amount of kallistatin in a sample" []	2028442	\N	\N	EFO	4	EFO	information entity	kallistatin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008196	"quantification of the amount of kallistatin in a sample" []	3179632	\N	\N	EFO	5	EFO	experimental factor	kallistatin measurement
EFO:0008197	\N	\N	"quantification of the amount of killer cell immunoglobulin-like receptor 2DL4 in a sample" []	EFO:0008197	"quantification of the amount of killer cell immunoglobulin-like receptor 2DL4 in a sample" []	69431	\N	\N	EFO	0	EFO	killer cell immunoglobulin-like receptor 2DL4 measurement	killer cell immunoglobulin-like receptor 2DL4 measurement
EFO:0007937	EFO:0008197	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008197	"quantification of the amount of killer cell immunoglobulin-like receptor 2DL4 in a sample" []	211573	\N	\N	EFO	1	EFO	blood protein measurement	killer cell immunoglobulin-like receptor 2DL4 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008197	"quantification of the amount of killer cell immunoglobulin-like receptor 2DL4 in a sample" []	564843	\N	\N	EFO	2	EFO	protein measurement	killer cell immunoglobulin-like receptor 2DL4 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008197	"quantification of the amount of killer cell immunoglobulin-like receptor 2DL4 in a sample" []	1146019	\N	\N	EFO	3	EFO	measurement	killer cell immunoglobulin-like receptor 2DL4 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008197	"quantification of the amount of killer cell immunoglobulin-like receptor 2DL4 in a sample" []	2028443	\N	\N	EFO	4	EFO	information entity	killer cell immunoglobulin-like receptor 2DL4 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008197	"quantification of the amount of killer cell immunoglobulin-like receptor 2DL4 in a sample" []	3179633	\N	\N	EFO	5	EFO	experimental factor	killer cell immunoglobulin-like receptor 2DL4 measurement
EFO:0008198	\N	\N	"quantification of the amount of kininogen-1 in a sample" []	EFO:0008198	"quantification of the amount of kininogen-1 in a sample" []	69432	\N	\N	EFO	0	EFO	kininogen-1 measurement	kininogen-1 measurement
EFO:0007937	EFO:0008198	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008198	"quantification of the amount of kininogen-1 in a sample" []	211574	\N	\N	EFO	1	EFO	blood protein measurement	kininogen-1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008198	"quantification of the amount of kininogen-1 in a sample" []	564844	\N	\N	EFO	2	EFO	protein measurement	kininogen-1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008198	"quantification of the amount of kininogen-1 in a sample" []	1146020	\N	\N	EFO	3	EFO	measurement	kininogen-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008198	"quantification of the amount of kininogen-1 in a sample" []	2028444	\N	\N	EFO	4	EFO	information entity	kininogen-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008198	"quantification of the amount of kininogen-1 in a sample" []	3179634	\N	\N	EFO	5	EFO	experimental factor	kininogen-1 measurement
EFO:0008199	\N	\N	"quantification of the amount of Kunitz-type protease inhibitor 1 in a sample" []	EFO:0008199	"quantification of the amount of Kunitz-type protease inhibitor 1 in a sample" []	69433	\N	\N	EFO	0	EFO	Kunitz-type protease inhibitor 1 measurement	Kunitz-type protease inhibitor 1 measurement
EFO:0007937	EFO:0008199	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008199	"quantification of the amount of Kunitz-type protease inhibitor 1 in a sample" []	211575	\N	\N	EFO	1	EFO	blood protein measurement	Kunitz-type protease inhibitor 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008199	"quantification of the amount of Kunitz-type protease inhibitor 1 in a sample" []	564845	\N	\N	EFO	2	EFO	protein measurement	Kunitz-type protease inhibitor 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008199	"quantification of the amount of Kunitz-type protease inhibitor 1 in a sample" []	1146021	\N	\N	EFO	3	EFO	measurement	Kunitz-type protease inhibitor 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008199	"quantification of the amount of Kunitz-type protease inhibitor 1 in a sample" []	2028445	\N	\N	EFO	4	EFO	information entity	Kunitz-type protease inhibitor 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008199	"quantification of the amount of Kunitz-type protease inhibitor 1 in a sample" []	3179635	\N	\N	EFO	5	EFO	experimental factor	Kunitz-type protease inhibitor 1 measurement
EFO:0008200	\N	\N	"quantification of the amount of Kunitz-type protease inhibitor 2 in a sample" []	EFO:0008200	"quantification of the amount of Kunitz-type protease inhibitor 2 in a sample" []	69434	\N	\N	EFO	0	EFO	Kunitz-type protease inhibitor 2 measurement	Kunitz-type protease inhibitor 2 measurement
EFO:0007937	EFO:0008200	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008200	"quantification of the amount of Kunitz-type protease inhibitor 2 in a sample" []	211576	\N	\N	EFO	1	EFO	blood protein measurement	Kunitz-type protease inhibitor 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008200	"quantification of the amount of Kunitz-type protease inhibitor 2 in a sample" []	564846	\N	\N	EFO	2	EFO	protein measurement	Kunitz-type protease inhibitor 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008200	"quantification of the amount of Kunitz-type protease inhibitor 2 in a sample" []	1146022	\N	\N	EFO	3	EFO	measurement	Kunitz-type protease inhibitor 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008200	"quantification of the amount of Kunitz-type protease inhibitor 2 in a sample" []	2028446	\N	\N	EFO	4	EFO	information entity	Kunitz-type protease inhibitor 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008200	"quantification of the amount of Kunitz-type protease inhibitor 2 in a sample" []	3179636	\N	\N	EFO	5	EFO	experimental factor	Kunitz-type protease inhibitor 2 measurement
EFO:0008201	\N	\N	"quantification of the amount of kynureninase in a sample" []	EFO:0008201	"quantification of the amount of kynureninase in a sample" []	69435	\N	\N	EFO	0	EFO	kynureninase measurement	kynureninase measurement
EFO:0007937	EFO:0008201	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008201	"quantification of the amount of kynureninase in a sample" []	211577	\N	\N	EFO	1	EFO	blood protein measurement	kynureninase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008201	"quantification of the amount of kynureninase in a sample" []	564847	\N	\N	EFO	2	EFO	protein measurement	kynureninase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008201	"quantification of the amount of kynureninase in a sample" []	1146023	\N	\N	EFO	3	EFO	measurement	kynureninase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008201	"quantification of the amount of kynureninase in a sample" []	2028447	\N	\N	EFO	4	EFO	information entity	kynureninase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008201	"quantification of the amount of kynureninase in a sample" []	3179637	\N	\N	EFO	5	EFO	experimental factor	kynureninase measurement
EFO:0008202	\N	\N	"quantification of the amount of L-Selectin in a sample" []	EFO:0008202	"quantification of the amount of L-Selectin in a sample" []	69436	\N	\N	EFO	0	EFO	L-Selectin measurement	L-Selectin measurement
EFO:0007937	EFO:0008202	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008202	"quantification of the amount of L-Selectin in a sample" []	211578	\N	\N	EFO	1	EFO	blood protein measurement	L-Selectin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008202	"quantification of the amount of L-Selectin in a sample" []	564848	\N	\N	EFO	2	EFO	protein measurement	L-Selectin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008202	"quantification of the amount of L-Selectin in a sample" []	1146024	\N	\N	EFO	3	EFO	measurement	L-Selectin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008202	"quantification of the amount of L-Selectin in a sample" []	2028448	\N	\N	EFO	4	EFO	information entity	L-Selectin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008202	"quantification of the amount of L-Selectin in a sample" []	3179638	\N	\N	EFO	5	EFO	experimental factor	L-Selectin measurement
EFO:0008203	\N	\N	"quantification of the amount of lactadherin in a sample" []	EFO:0008203	"quantification of the amount of lactadherin in a sample" []	69437	\N	\N	EFO	0	EFO	lactadherin measurement	lactadherin measurement
EFO:0007937	EFO:0008203	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008203	"quantification of the amount of lactadherin in a sample" []	211579	\N	\N	EFO	1	EFO	blood protein measurement	lactadherin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008203	"quantification of the amount of lactadherin in a sample" []	564849	\N	\N	EFO	2	EFO	protein measurement	lactadherin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008203	"quantification of the amount of lactadherin in a sample" []	1146025	\N	\N	EFO	3	EFO	measurement	lactadherin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008203	"quantification of the amount of lactadherin in a sample" []	2028449	\N	\N	EFO	4	EFO	information entity	lactadherin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008203	"quantification of the amount of lactadherin in a sample" []	3179639	\N	\N	EFO	5	EFO	experimental factor	lactadherin measurement
EFO:0008204	\N	\N	"quantification of some aspect of the diastolic function of the left cardiac ventricle such as peak velocity of mitral waves, isovolumetric relaxation time or diastolic dysfunction with preserved ejection fraction" []	EFO:0008204	"quantification of some aspect of the diastolic function of the left cardiac ventricle such as peak velocity of mitral waves, isovolumetric relaxation time or diastolic dysfunction with preserved ejection fraction" []	69438	\N	\N	EFO	0	EFO	left ventricular diastolic function measurement	left ventricular diastolic function measurement
EFO:0004298	EFO:0008204	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0008204	"quantification of some aspect of the diastolic function of the left cardiac ventricle such as peak velocity of mitral waves, isovolumetric relaxation time or diastolic dysfunction with preserved ejection fraction" []	211580	\N	\N	EFO	1	EFO	cardiovascular measurement	left ventricular diastolic function measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008204	"quantification of some aspect of the diastolic function of the left cardiac ventricle such as peak velocity of mitral waves, isovolumetric relaxation time or diastolic dysfunction with preserved ejection fraction" []	564850	\N	\N	EFO	2	EFO	measurement	left ventricular diastolic function measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008204	"quantification of some aspect of the diastolic function of the left cardiac ventricle such as peak velocity of mitral waves, isovolumetric relaxation time or diastolic dysfunction with preserved ejection fraction" []	1146026	\N	\N	EFO	3	EFO	information entity	left ventricular diastolic function measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008204	"quantification of some aspect of the diastolic function of the left cardiac ventricle such as peak velocity of mitral waves, isovolumetric relaxation time or diastolic dysfunction with preserved ejection fraction" []	2028450	\N	\N	EFO	4	EFO	experimental factor	left ventricular diastolic function measurement
EFO:0008205	\N	\N	"quantification of some aspect of the structure of the left cardiac ventricle such as wall thickness, mass or atrial atero-posterior diameter" []	EFO:0008205	"quantification of some aspect of the structure of the left cardiac ventricle such as wall thickness, mass or atrial atero-posterior diameter" []	69439	\N	\N	EFO	0	EFO	left ventricular structural measurement	left ventricular structural measurement
EFO:0004298	EFO:0008205	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0008205	"quantification of some aspect of the structure of the left cardiac ventricle such as wall thickness, mass or atrial atero-posterior diameter" []	211581	\N	\N	EFO	1	EFO	cardiovascular measurement	left ventricular structural measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008205	"quantification of some aspect of the structure of the left cardiac ventricle such as wall thickness, mass or atrial atero-posterior diameter" []	564851	\N	\N	EFO	2	EFO	measurement	left ventricular structural measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008205	"quantification of some aspect of the structure of the left cardiac ventricle such as wall thickness, mass or atrial atero-posterior diameter" []	1146027	\N	\N	EFO	3	EFO	information entity	left ventricular structural measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008205	"quantification of some aspect of the structure of the left cardiac ventricle such as wall thickness, mass or atrial atero-posterior diameter" []	2028451	\N	\N	EFO	4	EFO	experimental factor	left ventricular structural measurement
EFO:0008206	\N	\N	"quantification of some aspect of the systolic function of the left cardiac ventricle such as ventricular fractional shortening or systolic dysfunction" []	EFO:0008206	"quantification of some aspect of the systolic function of the left cardiac ventricle such as ventricular fractional shortening or systolic dysfunction" []	69440	\N	\N	EFO	0	EFO	left ventricular systolic function measurement	left ventricular systolic function measurement
EFO:0004298	EFO:0008206	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0008206	"quantification of some aspect of the systolic function of the left cardiac ventricle such as ventricular fractional shortening or systolic dysfunction" []	211582	\N	\N	EFO	1	EFO	cardiovascular measurement	left ventricular systolic function measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008206	"quantification of some aspect of the systolic function of the left cardiac ventricle such as ventricular fractional shortening or systolic dysfunction" []	564852	\N	\N	EFO	2	EFO	measurement	left ventricular systolic function measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008206	"quantification of some aspect of the systolic function of the left cardiac ventricle such as ventricular fractional shortening or systolic dysfunction" []	1146028	\N	\N	EFO	3	EFO	information entity	left ventricular systolic function measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008206	"quantification of some aspect of the systolic function of the left cardiac ventricle such as ventricular fractional shortening or systolic dysfunction" []	2028452	\N	\N	EFO	4	EFO	experimental factor	left ventricular systolic function measurement
EFO:0008207	\N	\N	"quantification of the amount of leucine carboxyl methyltransferase 1 in a sample" []	EFO:0008207	"quantification of the amount of leucine carboxyl methyltransferase 1 in a sample" []	69441	\N	\N	EFO	0	EFO	leucine carboxyl methyltransferase 1 measurement	leucine carboxyl methyltransferase 1 measurement
EFO:0007937	EFO:0008207	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008207	"quantification of the amount of leucine carboxyl methyltransferase 1 in a sample" []	211583	\N	\N	EFO	1	EFO	blood protein measurement	leucine carboxyl methyltransferase 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008207	"quantification of the amount of leucine carboxyl methyltransferase 1 in a sample" []	564853	\N	\N	EFO	2	EFO	protein measurement	leucine carboxyl methyltransferase 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008207	"quantification of the amount of leucine carboxyl methyltransferase 1 in a sample" []	1146029	\N	\N	EFO	3	EFO	measurement	leucine carboxyl methyltransferase 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008207	"quantification of the amount of leucine carboxyl methyltransferase 1 in a sample" []	2028453	\N	\N	EFO	4	EFO	information entity	leucine carboxyl methyltransferase 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008207	"quantification of the amount of leucine carboxyl methyltransferase 1 in a sample" []	3179640	\N	\N	EFO	5	EFO	experimental factor	leucine carboxyl methyltransferase 1 measurement
EFO:0008208	\N	\N	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 1 in a sample" []	EFO:0008208	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 1 in a sample" []	69442	\N	\N	EFO	0	EFO	leukocyte immunoglobulin-like receptor subfamily B member 1 measurement	leukocyte immunoglobulin-like receptor subfamily B member 1 measurement
EFO:0007937	EFO:0008208	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008208	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 1 in a sample" []	211584	\N	\N	EFO	1	EFO	blood protein measurement	leukocyte immunoglobulin-like receptor subfamily B member 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008208	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 1 in a sample" []	564854	\N	\N	EFO	2	EFO	protein measurement	leukocyte immunoglobulin-like receptor subfamily B member 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008208	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 1 in a sample" []	1146030	\N	\N	EFO	3	EFO	measurement	leukocyte immunoglobulin-like receptor subfamily B member 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008208	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 1 in a sample" []	2028454	\N	\N	EFO	4	EFO	information entity	leukocyte immunoglobulin-like receptor subfamily B member 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008208	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 1 in a sample" []	3179641	\N	\N	EFO	5	EFO	experimental factor	leukocyte immunoglobulin-like receptor subfamily B member 1 measurement
EFO:0008209	\N	\N	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 2 in a sample" []	EFO:0008209	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 2 in a sample" []	69443	\N	\N	EFO	0	EFO	leukocyte immunoglobulin-like receptor subfamily B member 2 measurement	leukocyte immunoglobulin-like receptor subfamily B member 2 measurement
EFO:0007937	EFO:0008209	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008209	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 2 in a sample" []	211585	\N	\N	EFO	1	EFO	blood protein measurement	leukocyte immunoglobulin-like receptor subfamily B member 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008209	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 2 in a sample" []	564855	\N	\N	EFO	2	EFO	protein measurement	leukocyte immunoglobulin-like receptor subfamily B member 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008209	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 2 in a sample" []	1146031	\N	\N	EFO	3	EFO	measurement	leukocyte immunoglobulin-like receptor subfamily B member 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008209	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 2 in a sample" []	2028455	\N	\N	EFO	4	EFO	information entity	leukocyte immunoglobulin-like receptor subfamily B member 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008209	"quantification of the amount of leukocyte immunoglobulin-like receptor subfamily B member 2 in a sample" []	3179642	\N	\N	EFO	5	EFO	experimental factor	leukocyte immunoglobulin-like receptor subfamily B member 2 measurement
EFO:0008210	\N	\N	"quantification of the amount of low affinity immunoglobulin epsilon Fc receptor in a sample" []	EFO:0008210	"quantification of the amount of low affinity immunoglobulin epsilon Fc receptor in a sample" []	69444	\N	\N	EFO	0	EFO	low affinity immunoglobulin epsilon Fc receptor measurement	low affinity immunoglobulin epsilon Fc receptor measurement
EFO:0007937	EFO:0008210	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008210	"quantification of the amount of low affinity immunoglobulin epsilon Fc receptor in a sample" []	211586	\N	\N	EFO	1	EFO	blood protein measurement	low affinity immunoglobulin epsilon Fc receptor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008210	"quantification of the amount of low affinity immunoglobulin epsilon Fc receptor in a sample" []	564856	\N	\N	EFO	2	EFO	protein measurement	low affinity immunoglobulin epsilon Fc receptor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008210	"quantification of the amount of low affinity immunoglobulin epsilon Fc receptor in a sample" []	1146032	\N	\N	EFO	3	EFO	measurement	low affinity immunoglobulin epsilon Fc receptor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008210	"quantification of the amount of low affinity immunoglobulin epsilon Fc receptor in a sample" []	2028456	\N	\N	EFO	4	EFO	information entity	low affinity immunoglobulin epsilon Fc receptor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008210	"quantification of the amount of low affinity immunoglobulin epsilon Fc receptor in a sample" []	3179643	\N	\N	EFO	5	EFO	experimental factor	low affinity immunoglobulin epsilon Fc receptor measurement
EFO:0008211	\N	\N	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor II-a/b in a sample" []	EFO:0008211	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor II-a/b in a sample" []	69445	\N	\N	EFO	0	EFO	low affinity immunoglobulin gamma Fc region receptor II-a/b measurement	low affinity immunoglobulin gamma Fc region receptor II-a/b measurement
EFO:0007937	EFO:0008211	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008211	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor II-a/b in a sample" []	211587	\N	\N	EFO	1	EFO	blood protein measurement	low affinity immunoglobulin gamma Fc region receptor II-a/b measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008211	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor II-a/b in a sample" []	564857	\N	\N	EFO	2	EFO	protein measurement	low affinity immunoglobulin gamma Fc region receptor II-a/b measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008211	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor II-a/b in a sample" []	1146033	\N	\N	EFO	3	EFO	measurement	low affinity immunoglobulin gamma Fc region receptor II-a/b measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008211	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor II-a/b in a sample" []	2028457	\N	\N	EFO	4	EFO	information entity	low affinity immunoglobulin gamma Fc region receptor II-a/b measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008211	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor II-a/b in a sample" []	3179644	\N	\N	EFO	5	EFO	experimental factor	low affinity immunoglobulin gamma Fc region receptor II-a/b measurement
EFO:0008212	\N	\N	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor III-B in a sample" []	EFO:0008212	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor III-B in a sample" []	69446	\N	\N	EFO	0	EFO	low affinity immunoglobulin gamma Fc region receptor III-B measurement	low affinity immunoglobulin gamma Fc region receptor III-B measurement
EFO:0007937	EFO:0008212	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008212	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor III-B in a sample" []	211588	\N	\N	EFO	1	EFO	blood protein measurement	low affinity immunoglobulin gamma Fc region receptor III-B measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008212	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor III-B in a sample" []	564858	\N	\N	EFO	2	EFO	protein measurement	low affinity immunoglobulin gamma Fc region receptor III-B measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008212	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor III-B in a sample" []	1146034	\N	\N	EFO	3	EFO	measurement	low affinity immunoglobulin gamma Fc region receptor III-B measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008212	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor III-B in a sample" []	2028458	\N	\N	EFO	4	EFO	information entity	low affinity immunoglobulin gamma Fc region receptor III-B measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008212	"quantification of the amount of low affinity immunoglobulin gamma Fc region receptor III-B in a sample" []	3179645	\N	\N	EFO	5	EFO	experimental factor	low affinity immunoglobulin gamma Fc region receptor III-B measurement
EFO:0008213	\N	\N	"quantification of the amount of low molecular weight phosphotyrosine protein phosphatase in a sample" []	EFO:0008213	"quantification of the amount of low molecular weight phosphotyrosine protein phosphatase in a sample" []	69447	\N	\N	EFO	0	EFO	low molecular weight phosphotyrosine protein phosphatase measurement	low molecular weight phosphotyrosine protein phosphatase measurement
EFO:0007937	EFO:0008213	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008213	"quantification of the amount of low molecular weight phosphotyrosine protein phosphatase in a sample" []	211589	\N	\N	EFO	1	EFO	blood protein measurement	low molecular weight phosphotyrosine protein phosphatase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008213	"quantification of the amount of low molecular weight phosphotyrosine protein phosphatase in a sample" []	564859	\N	\N	EFO	2	EFO	protein measurement	low molecular weight phosphotyrosine protein phosphatase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008213	"quantification of the amount of low molecular weight phosphotyrosine protein phosphatase in a sample" []	1146035	\N	\N	EFO	3	EFO	measurement	low molecular weight phosphotyrosine protein phosphatase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008213	"quantification of the amount of low molecular weight phosphotyrosine protein phosphatase in a sample" []	2028459	\N	\N	EFO	4	EFO	information entity	low molecular weight phosphotyrosine protein phosphatase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008213	"quantification of the amount of low molecular weight phosphotyrosine protein phosphatase in a sample" []	3179646	\N	\N	EFO	5	EFO	experimental factor	low molecular weight phosphotyrosine protein phosphatase measurement
EFO:0008214	\N	\N	"quantification of the amount of lymphotactin in a sample" []	EFO:0008214	"quantification of the amount of lymphotactin in a sample" []	69448	\N	\N	EFO	0	EFO	lymphotactin measurement	lymphotactin measurement
EFO:0007937	EFO:0008214	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008214	"quantification of the amount of lymphotactin in a sample" []	211590	\N	\N	EFO	1	EFO	blood protein measurement	lymphotactin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008214	"quantification of the amount of lymphotactin in a sample" []	564860	\N	\N	EFO	2	EFO	protein measurement	lymphotactin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008214	"quantification of the amount of lymphotactin in a sample" []	1146036	\N	\N	EFO	3	EFO	measurement	lymphotactin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008214	"quantification of the amount of lymphotactin in a sample" []	2028460	\N	\N	EFO	4	EFO	information entity	lymphotactin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008214	"quantification of the amount of lymphotactin in a sample" []	3179647	\N	\N	EFO	5	EFO	experimental factor	lymphotactin measurement
EFO:0008215	\N	\N	"quantification of the amount of lysosomal protective protein in a sample" []	EFO:0008215	"quantification of the amount of lysosomal protective protein in a sample" []	69449	\N	\N	EFO	0	EFO	lysosomal protective protein measurement	lysosomal protective protein measurement
EFO:0007937	EFO:0008215	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008215	"quantification of the amount of lysosomal protective protein in a sample" []	211591	\N	\N	EFO	1	EFO	blood protein measurement	lysosomal protective protein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008215	"quantification of the amount of lysosomal protective protein in a sample" []	564861	\N	\N	EFO	2	EFO	protein measurement	lysosomal protective protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008215	"quantification of the amount of lysosomal protective protein in a sample" []	1146037	\N	\N	EFO	3	EFO	measurement	lysosomal protective protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008215	"quantification of the amount of lysosomal protective protein in a sample" []	2028461	\N	\N	EFO	4	EFO	information entity	lysosomal protective protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008215	"quantification of the amount of lysosomal protective protein in a sample" []	3179648	\N	\N	EFO	5	EFO	experimental factor	lysosomal protective protein measurement
EFO:0008216	\N	\N	"quantification of the amount of lysozyme C in a sample" []	EFO:0008216	"quantification of the amount of lysozyme C in a sample" []	69450	\N	\N	EFO	0	EFO	lysozyme C measurement	lysozyme C measurement
EFO:0007937	EFO:0008216	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008216	"quantification of the amount of lysozyme C in a sample" []	211592	\N	\N	EFO	1	EFO	blood protein measurement	lysozyme C measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008216	"quantification of the amount of lysozyme C in a sample" []	564862	\N	\N	EFO	2	EFO	protein measurement	lysozyme C measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008216	"quantification of the amount of lysozyme C in a sample" []	1146038	\N	\N	EFO	3	EFO	measurement	lysozyme C measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008216	"quantification of the amount of lysozyme C in a sample" []	2028462	\N	\N	EFO	4	EFO	information entity	lysozyme C measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008216	"quantification of the amount of lysozyme C in a sample" []	3179649	\N	\N	EFO	5	EFO	experimental factor	lysozyme C measurement
EFO:0008217	\N	\N	"quantification of the amount of macrophage colony stimulating factor in a sample" []	EFO:0008217	"quantification of the amount of macrophage colony stimulating factor in a sample" []	69451	\N	\N	EFO	0	EFO	macrophage colony stimulating factor measurement	macrophage colony stimulating factor measurement
EFO:0007937	EFO:0008217	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008217	"quantification of the amount of macrophage colony stimulating factor in a sample" []	211593	\N	\N	EFO	1	EFO	blood protein measurement	macrophage colony stimulating factor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008217	"quantification of the amount of macrophage colony stimulating factor in a sample" []	564863	\N	\N	EFO	2	EFO	protein measurement	macrophage colony stimulating factor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008217	"quantification of the amount of macrophage colony stimulating factor in a sample" []	1146039	\N	\N	EFO	3	EFO	measurement	macrophage colony stimulating factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008217	"quantification of the amount of macrophage colony stimulating factor in a sample" []	2028463	\N	\N	EFO	4	EFO	information entity	macrophage colony stimulating factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008217	"quantification of the amount of macrophage colony stimulating factor in a sample" []	3179650	\N	\N	EFO	5	EFO	experimental factor	macrophage colony stimulating factor measurement
EFO:0008218	\N	\N	"quantification of the amount of macrophage inflammatory protein 1a in a sample" []	EFO:0008218	"quantification of the amount of macrophage inflammatory protein 1a in a sample" []	69452	\N	\N	EFO	0	EFO	macrophage inflammatory protein 1a measurement	macrophage inflammatory protein 1a measurement
EFO:0007937	EFO:0008218	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008218	"quantification of the amount of macrophage inflammatory protein 1a in a sample" []	211594	\N	\N	EFO	1	EFO	blood protein measurement	macrophage inflammatory protein 1a measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008218	"quantification of the amount of macrophage inflammatory protein 1a in a sample" []	564864	\N	\N	EFO	2	EFO	protein measurement	macrophage inflammatory protein 1a measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008218	"quantification of the amount of macrophage inflammatory protein 1a in a sample" []	1146040	\N	\N	EFO	3	EFO	measurement	macrophage inflammatory protein 1a measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008218	"quantification of the amount of macrophage inflammatory protein 1a in a sample" []	2028464	\N	\N	EFO	4	EFO	information entity	macrophage inflammatory protein 1a measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008218	"quantification of the amount of macrophage inflammatory protein 1a in a sample" []	3179651	\N	\N	EFO	5	EFO	experimental factor	macrophage inflammatory protein 1a measurement
EFO:0008219	\N	\N	"quantification of the amount of macrophage inflammatory protein 1b in a sample" []	EFO:0008219	"quantification of the amount of macrophage inflammatory protein 1b in a sample" []	69453	\N	\N	EFO	0	EFO	macrophage inflammatory protein 1b measurement	macrophage inflammatory protein 1b measurement
EFO:0007937	EFO:0008219	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008219	"quantification of the amount of macrophage inflammatory protein 1b in a sample" []	211595	\N	\N	EFO	1	EFO	blood protein measurement	macrophage inflammatory protein 1b measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008219	"quantification of the amount of macrophage inflammatory protein 1b in a sample" []	564865	\N	\N	EFO	2	EFO	protein measurement	macrophage inflammatory protein 1b measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008219	"quantification of the amount of macrophage inflammatory protein 1b in a sample" []	1146041	\N	\N	EFO	3	EFO	measurement	macrophage inflammatory protein 1b measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008219	"quantification of the amount of macrophage inflammatory protein 1b in a sample" []	2028465	\N	\N	EFO	4	EFO	information entity	macrophage inflammatory protein 1b measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008219	"quantification of the amount of macrophage inflammatory protein 1b in a sample" []	3179652	\N	\N	EFO	5	EFO	experimental factor	macrophage inflammatory protein 1b measurement
EFO:0008220	\N	\N	"quantification of the amount of macrophage metalloelastase in a sample" []	EFO:0008220	"quantification of the amount of macrophage metalloelastase in a sample" []	69454	\N	\N	EFO	0	EFO	macrophage metalloelastase measurement	macrophage metalloelastase measurement
EFO:0007937	EFO:0008220	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008220	"quantification of the amount of macrophage metalloelastase in a sample" []	211596	\N	\N	EFO	1	EFO	blood protein measurement	macrophage metalloelastase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008220	"quantification of the amount of macrophage metalloelastase in a sample" []	564866	\N	\N	EFO	2	EFO	protein measurement	macrophage metalloelastase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008220	"quantification of the amount of macrophage metalloelastase in a sample" []	1146042	\N	\N	EFO	3	EFO	measurement	macrophage metalloelastase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008220	"quantification of the amount of macrophage metalloelastase in a sample" []	2028466	\N	\N	EFO	4	EFO	information entity	macrophage metalloelastase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008220	"quantification of the amount of macrophage metalloelastase in a sample" []	3179653	\N	\N	EFO	5	EFO	experimental factor	macrophage metalloelastase measurement
EFO:0008221	\N	\N	"quantification of the amount of macrophage migration inhibitory factor in a sample" []	EFO:0008221	"quantification of the amount of macrophage migration inhibitory factor in a sample" []	69455	\N	\N	EFO	0	EFO	macrophage migration inhibitory factor measurement	macrophage migration inhibitory factor measurement
EFO:0007937	EFO:0008221	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008221	"quantification of the amount of macrophage migration inhibitory factor in a sample" []	211597	\N	\N	EFO	1	EFO	blood protein measurement	macrophage migration inhibitory factor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008221	"quantification of the amount of macrophage migration inhibitory factor in a sample" []	564867	\N	\N	EFO	2	EFO	protein measurement	macrophage migration inhibitory factor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008221	"quantification of the amount of macrophage migration inhibitory factor in a sample" []	1146043	\N	\N	EFO	3	EFO	measurement	macrophage migration inhibitory factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008221	"quantification of the amount of macrophage migration inhibitory factor in a sample" []	2028467	\N	\N	EFO	4	EFO	information entity	macrophage migration inhibitory factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008221	"quantification of the amount of macrophage migration inhibitory factor in a sample" []	3179654	\N	\N	EFO	5	EFO	experimental factor	macrophage migration inhibitory factor measurement
EFO:0008222	\N	\N	"quantification of the amount of macrophage scavenger receptor types I and II in a sample" []	EFO:0008222	"quantification of the amount of macrophage scavenger receptor types I and II in a sample" []	69456	\N	\N	EFO	0	EFO	macrophage scavenger receptor types I and II measurement	macrophage scavenger receptor types I and II measurement
EFO:0007937	EFO:0008222	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008222	"quantification of the amount of macrophage scavenger receptor types I and II in a sample" []	211598	\N	\N	EFO	1	EFO	blood protein measurement	macrophage scavenger receptor types I and II measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008222	"quantification of the amount of macrophage scavenger receptor types I and II in a sample" []	564868	\N	\N	EFO	2	EFO	protein measurement	macrophage scavenger receptor types I and II measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008222	"quantification of the amount of macrophage scavenger receptor types I and II in a sample" []	1146044	\N	\N	EFO	3	EFO	measurement	macrophage scavenger receptor types I and II measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008222	"quantification of the amount of macrophage scavenger receptor types I and II in a sample" []	2028468	\N	\N	EFO	4	EFO	information entity	macrophage scavenger receptor types I and II measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008222	"quantification of the amount of macrophage scavenger receptor types I and II in a sample" []	3179655	\N	\N	EFO	5	EFO	experimental factor	macrophage scavenger receptor types I and II measurement
EFO:0008223	\N	\N	"quantification of the amount of mannan-binding lectin serine protease 1 in a sample" []	EFO:0008223	"quantification of the amount of mannan-binding lectin serine protease 1 in a sample" []	69457	\N	\N	EFO	0	EFO	mannan-binding lectin serine protease 1 measurement	mannan-binding lectin serine protease 1 measurement
EFO:0007937	EFO:0008223	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008223	"quantification of the amount of mannan-binding lectin serine protease 1 in a sample" []	211599	\N	\N	EFO	1	EFO	blood protein measurement	mannan-binding lectin serine protease 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008223	"quantification of the amount of mannan-binding lectin serine protease 1 in a sample" []	564869	\N	\N	EFO	2	EFO	protein measurement	mannan-binding lectin serine protease 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008223	"quantification of the amount of mannan-binding lectin serine protease 1 in a sample" []	1146045	\N	\N	EFO	3	EFO	measurement	mannan-binding lectin serine protease 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008223	"quantification of the amount of mannan-binding lectin serine protease 1 in a sample" []	2028469	\N	\N	EFO	4	EFO	information entity	mannan-binding lectin serine protease 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008223	"quantification of the amount of mannan-binding lectin serine protease 1 in a sample" []	3179656	\N	\N	EFO	5	EFO	experimental factor	mannan-binding lectin serine protease 1 measurement
EFO:0008224	\N	\N	"quantification of the amount of mannose-binding protein C in a sample" []	EFO:0008224	"quantification of the amount of mannose-binding protein C in a sample" []	69458	\N	\N	EFO	0	EFO	mannose-binding protein C measurement	mannose-binding protein C measurement
EFO:0007937	EFO:0008224	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008224	"quantification of the amount of mannose-binding protein C in a sample" []	211600	\N	\N	EFO	1	EFO	blood protein measurement	mannose-binding protein C measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008224	"quantification of the amount of mannose-binding protein C in a sample" []	564870	\N	\N	EFO	2	EFO	protein measurement	mannose-binding protein C measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008224	"quantification of the amount of mannose-binding protein C in a sample" []	1146046	\N	\N	EFO	3	EFO	measurement	mannose-binding protein C measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008224	"quantification of the amount of mannose-binding protein C in a sample" []	2028470	\N	\N	EFO	4	EFO	information entity	mannose-binding protein C measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008224	"quantification of the amount of mannose-binding protein C in a sample" []	3179657	\N	\N	EFO	5	EFO	experimental factor	mannose-binding protein C measurement
EFO:0008225	\N	\N	"quantification of the amount of MAP kinase-activated protein kinase 2 in a sample" []	EFO:0008225	"quantification of the amount of MAP kinase-activated protein kinase 2 in a sample" []	69459	\N	\N	EFO	0	EFO	MAP kinase-activated protein kinase 2 measurement	MAP kinase-activated protein kinase 2 measurement
EFO:0007937	EFO:0008225	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008225	"quantification of the amount of MAP kinase-activated protein kinase 2 in a sample" []	211601	\N	\N	EFO	1	EFO	blood protein measurement	MAP kinase-activated protein kinase 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008225	"quantification of the amount of MAP kinase-activated protein kinase 2 in a sample" []	564871	\N	\N	EFO	2	EFO	protein measurement	MAP kinase-activated protein kinase 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008225	"quantification of the amount of MAP kinase-activated protein kinase 2 in a sample" []	1146047	\N	\N	EFO	3	EFO	measurement	MAP kinase-activated protein kinase 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008225	"quantification of the amount of MAP kinase-activated protein kinase 2 in a sample" []	2028471	\N	\N	EFO	4	EFO	information entity	MAP kinase-activated protein kinase 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008225	"quantification of the amount of MAP kinase-activated protein kinase 2 in a sample" []	3179658	\N	\N	EFO	5	EFO	experimental factor	MAP kinase-activated protein kinase 2 measurement
EFO:0008226	\N	\N	"quantification of the amount of MAP kinase-activated protein kinase 3 in a sample" []	EFO:0008226	"quantification of the amount of MAP kinase-activated protein kinase 3 in a sample" []	69460	\N	\N	EFO	0	EFO	MAP kinase-activated protein kinase 3 measurement	MAP kinase-activated protein kinase 3 measurement
EFO:0007937	EFO:0008226	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008226	"quantification of the amount of MAP kinase-activated protein kinase 3 in a sample" []	211602	\N	\N	EFO	1	EFO	blood protein measurement	MAP kinase-activated protein kinase 3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008226	"quantification of the amount of MAP kinase-activated protein kinase 3 in a sample" []	564872	\N	\N	EFO	2	EFO	protein measurement	MAP kinase-activated protein kinase 3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008226	"quantification of the amount of MAP kinase-activated protein kinase 3 in a sample" []	1146048	\N	\N	EFO	3	EFO	measurement	MAP kinase-activated protein kinase 3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008226	"quantification of the amount of MAP kinase-activated protein kinase 3 in a sample" []	2028472	\N	\N	EFO	4	EFO	information entity	MAP kinase-activated protein kinase 3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008226	"quantification of the amount of MAP kinase-activated protein kinase 3 in a sample" []	3179659	\N	\N	EFO	5	EFO	experimental factor	MAP kinase-activated protein kinase 3 measurement
EFO:0008227	\N	\N	"quantification of the amount of matrilysin in a sample" []	EFO:0008227	"quantification of the amount of matrilysin in a sample" []	69461	\N	\N	EFO	0	EFO	matrilysin measurement	matrilysin measurement
EFO:0007937	EFO:0008227	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008227	"quantification of the amount of matrilysin in a sample" []	211603	\N	\N	EFO	1	EFO	blood protein measurement	matrilysin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008227	"quantification of the amount of matrilysin in a sample" []	564873	\N	\N	EFO	2	EFO	protein measurement	matrilysin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008227	"quantification of the amount of matrilysin in a sample" []	1146049	\N	\N	EFO	3	EFO	measurement	matrilysin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008227	"quantification of the amount of matrilysin in a sample" []	2028473	\N	\N	EFO	4	EFO	information entity	matrilysin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008227	"quantification of the amount of matrilysin in a sample" []	3179660	\N	\N	EFO	5	EFO	experimental factor	matrilysin measurement
EFO:0008228	\N	\N	"quantification of the amount of mediator of RNA polymerase II transcription subunit 1 in a sample" []	EFO:0008228	"quantification of the amount of mediator of RNA polymerase II transcription subunit 1 in a sample" []	69462	\N	\N	EFO	0	EFO	mediator of RNA polymerase II transcription subunit 1 measurement	mediator of RNA polymerase II transcription subunit 1 measurement
EFO:0007937	EFO:0008228	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008228	"quantification of the amount of mediator of RNA polymerase II transcription subunit 1 in a sample" []	211604	\N	\N	EFO	1	EFO	blood protein measurement	mediator of RNA polymerase II transcription subunit 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008228	"quantification of the amount of mediator of RNA polymerase II transcription subunit 1 in a sample" []	564874	\N	\N	EFO	2	EFO	protein measurement	mediator of RNA polymerase II transcription subunit 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008228	"quantification of the amount of mediator of RNA polymerase II transcription subunit 1 in a sample" []	1146050	\N	\N	EFO	3	EFO	measurement	mediator of RNA polymerase II transcription subunit 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008228	"quantification of the amount of mediator of RNA polymerase II transcription subunit 1 in a sample" []	2028474	\N	\N	EFO	4	EFO	information entity	mediator of RNA polymerase II transcription subunit 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008228	"quantification of the amount of mediator of RNA polymerase II transcription subunit 1 in a sample" []	3179661	\N	\N	EFO	5	EFO	experimental factor	mediator of RNA polymerase II transcription subunit 1 measurement
EFO:0008229	\N	\N	"quantification of the amount of melanoma-derived growth regulatory protein in a sample" []	EFO:0008229	"quantification of the amount of melanoma-derived growth regulatory protein in a sample" []	69463	\N	\N	EFO	0	EFO	melanoma-derived growth regulatory protein measurement	melanoma-derived growth regulatory protein measurement
EFO:0007937	EFO:0008229	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008229	"quantification of the amount of melanoma-derived growth regulatory protein in a sample" []	211605	\N	\N	EFO	1	EFO	blood protein measurement	melanoma-derived growth regulatory protein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008229	"quantification of the amount of melanoma-derived growth regulatory protein in a sample" []	564875	\N	\N	EFO	2	EFO	protein measurement	melanoma-derived growth regulatory protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008229	"quantification of the amount of melanoma-derived growth regulatory protein in a sample" []	1146051	\N	\N	EFO	3	EFO	measurement	melanoma-derived growth regulatory protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008229	"quantification of the amount of melanoma-derived growth regulatory protein in a sample" []	2028475	\N	\N	EFO	4	EFO	information entity	melanoma-derived growth regulatory protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008229	"quantification of the amount of melanoma-derived growth regulatory protein in a sample" []	3179662	\N	\N	EFO	5	EFO	experimental factor	melanoma-derived growth regulatory protein measurement
EFO:0008230	\N	\N	"quantification of some aspect of mental development, including cognition, expressive language and receptive language" []	EFO:0008230	"quantification of some aspect of mental development, including cognition, expressive language and receptive language" []	69464	\N	\N	EFO	0	EFO	mental development measurement	mental development measurement
EFO:0008245	EFO:0008230	\N	"quantification of some aspect of neurodevelopment, such as language development or fine motor skills development. Neurodevelopment scores can used as an indicator of neurodevelopmental delays." []	EFO:0008230	"quantification of some aspect of mental development, including cognition, expressive language and receptive language" []	211606	\N	\N	EFO	1	EFO	neurodevelopmental measurement	mental development measurement
EFO:0001444	EFO:0008245	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008230	"quantification of some aspect of mental development, including cognition, expressive language and receptive language" []	564876	\N	\N	EFO	2	EFO	measurement	mental development measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008230	"quantification of some aspect of mental development, including cognition, expressive language and receptive language" []	1146052	\N	\N	EFO	3	EFO	information entity	mental development measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008230	"quantification of some aspect of mental development, including cognition, expressive language and receptive language" []	2028476	\N	\N	EFO	4	EFO	experimental factor	mental development measurement
EFO:0008231	\N	\N	"quantification of the amount of metalloproteinase inhibitor 3 in a sample" []	EFO:0008231	"quantification of the amount of metalloproteinase inhibitor 3 in a sample" []	69465	\N	\N	EFO	0	EFO	metalloproteinase inhibitor 3 measurement	metalloproteinase inhibitor 3 measurement
EFO:0007937	EFO:0008231	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008231	"quantification of the amount of metalloproteinase inhibitor 3 in a sample" []	211607	\N	\N	EFO	1	EFO	blood protein measurement	metalloproteinase inhibitor 3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008231	"quantification of the amount of metalloproteinase inhibitor 3 in a sample" []	564877	\N	\N	EFO	2	EFO	protein measurement	metalloproteinase inhibitor 3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008231	"quantification of the amount of metalloproteinase inhibitor 3 in a sample" []	1146053	\N	\N	EFO	3	EFO	measurement	metalloproteinase inhibitor 3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008231	"quantification of the amount of metalloproteinase inhibitor 3 in a sample" []	2028477	\N	\N	EFO	4	EFO	information entity	metalloproteinase inhibitor 3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008231	"quantification of the amount of metalloproteinase inhibitor 3 in a sample" []	3179663	\N	\N	EFO	5	EFO	experimental factor	metalloproteinase inhibitor 3 measurement
EFO:0008232	\N	\N	"quantification of the amount of methionine aminopeptidase 2 in a sample" []	EFO:0008232	"quantification of the amount of methionine aminopeptidase 2 in a sample" []	69466	\N	\N	EFO	0	EFO	methionine aminopeptidase 2 measurement	methionine aminopeptidase 2 measurement
EFO:0007937	EFO:0008232	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008232	"quantification of the amount of methionine aminopeptidase 2 in a sample" []	211608	\N	\N	EFO	1	EFO	blood protein measurement	methionine aminopeptidase 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008232	"quantification of the amount of methionine aminopeptidase 2 in a sample" []	564878	\N	\N	EFO	2	EFO	protein measurement	methionine aminopeptidase 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008232	"quantification of the amount of methionine aminopeptidase 2 in a sample" []	1146054	\N	\N	EFO	3	EFO	measurement	methionine aminopeptidase 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008232	"quantification of the amount of methionine aminopeptidase 2 in a sample" []	2028478	\N	\N	EFO	4	EFO	information entity	methionine aminopeptidase 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008232	"quantification of the amount of methionine aminopeptidase 2 in a sample" []	3179664	\N	\N	EFO	5	EFO	experimental factor	methionine aminopeptidase 2 measurement
EFO:0008233	\N	\N	"quantification of the amount of MHC class I polypeptide-related sequence A in a sample" []	EFO:0008233	"quantification of the amount of MHC class I polypeptide-related sequence A in a sample" []	69467	\N	\N	EFO	0	EFO	MHC class I polypeptide-related sequence A measurement	MHC class I polypeptide-related sequence A measurement
EFO:0007937	EFO:0008233	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008233	"quantification of the amount of MHC class I polypeptide-related sequence A in a sample" []	211609	\N	\N	EFO	1	EFO	blood protein measurement	MHC class I polypeptide-related sequence A measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008233	"quantification of the amount of MHC class I polypeptide-related sequence A in a sample" []	564879	\N	\N	EFO	2	EFO	protein measurement	MHC class I polypeptide-related sequence A measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008233	"quantification of the amount of MHC class I polypeptide-related sequence A in a sample" []	1146055	\N	\N	EFO	3	EFO	measurement	MHC class I polypeptide-related sequence A measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008233	"quantification of the amount of MHC class I polypeptide-related sequence A in a sample" []	2028479	\N	\N	EFO	4	EFO	information entity	MHC class I polypeptide-related sequence A measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008233	"quantification of the amount of MHC class I polypeptide-related sequence A in a sample" []	3179665	\N	\N	EFO	5	EFO	experimental factor	MHC class I polypeptide-related sequence A measurement
EFO:0008234	\N	\N	"quantification of the amount of MHC class I polypeptide-related sequence B in a sample" []	EFO:0008234	"quantification of the amount of MHC class I polypeptide-related sequence B in a sample" []	69468	\N	\N	EFO	0	EFO	MHC class I polypeptide-related sequence B measurement	MHC class I polypeptide-related sequence B measurement
EFO:0007937	EFO:0008234	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008234	"quantification of the amount of MHC class I polypeptide-related sequence B in a sample" []	211610	\N	\N	EFO	1	EFO	blood protein measurement	MHC class I polypeptide-related sequence B measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008234	"quantification of the amount of MHC class I polypeptide-related sequence B in a sample" []	564880	\N	\N	EFO	2	EFO	protein measurement	MHC class I polypeptide-related sequence B measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008234	"quantification of the amount of MHC class I polypeptide-related sequence B in a sample" []	1146056	\N	\N	EFO	3	EFO	measurement	MHC class I polypeptide-related sequence B measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008234	"quantification of the amount of MHC class I polypeptide-related sequence B in a sample" []	2028480	\N	\N	EFO	4	EFO	information entity	MHC class I polypeptide-related sequence B measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008234	"quantification of the amount of MHC class I polypeptide-related sequence B in a sample" []	3179666	\N	\N	EFO	5	EFO	experimental factor	MHC class I polypeptide-related sequence B measurement
EFO:0008235	\N	\N	"quantification of the amount of monocyte chemotactic protein 3 in a sample" []	EFO:0008235	"quantification of the amount of monocyte chemotactic protein 3 in a sample" []	69469	\N	\N	EFO	0	EFO	monocyte chemotactic protein 3 measurement	monocyte chemotactic protein 3 measurement
EFO:0007937	EFO:0008235	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008235	"quantification of the amount of monocyte chemotactic protein 3 in a sample" []	211611	\N	\N	EFO	1	EFO	blood protein measurement	monocyte chemotactic protein 3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008235	"quantification of the amount of monocyte chemotactic protein 3 in a sample" []	564881	\N	\N	EFO	2	EFO	protein measurement	monocyte chemotactic protein 3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008235	"quantification of the amount of monocyte chemotactic protein 3 in a sample" []	1146057	\N	\N	EFO	3	EFO	measurement	monocyte chemotactic protein 3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008235	"quantification of the amount of monocyte chemotactic protein 3 in a sample" []	2028481	\N	\N	EFO	4	EFO	information entity	monocyte chemotactic protein 3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008235	"quantification of the amount of monocyte chemotactic protein 3 in a sample" []	3179667	\N	\N	EFO	5	EFO	experimental factor	monocyte chemotactic protein 3 measurement
EFO:0008236	\N	\N	"quantification of the amount of monokine induced by gamma interferon in a sample" []	EFO:0008236	"quantification of the amount of monokine induced by gamma interferon in a sample" []	69470	\N	\N	EFO	0	EFO	monokine induced by gamma interferon measurement	monokine induced by gamma interferon measurement
EFO:0007937	EFO:0008236	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008236	"quantification of the amount of monokine induced by gamma interferon in a sample" []	211612	\N	\N	EFO	1	EFO	blood protein measurement	monokine induced by gamma interferon measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008236	"quantification of the amount of monokine induced by gamma interferon in a sample" []	564882	\N	\N	EFO	2	EFO	protein measurement	monokine induced by gamma interferon measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008236	"quantification of the amount of monokine induced by gamma interferon in a sample" []	1146058	\N	\N	EFO	3	EFO	measurement	monokine induced by gamma interferon measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008236	"quantification of the amount of monokine induced by gamma interferon in a sample" []	2028482	\N	\N	EFO	4	EFO	information entity	monokine induced by gamma interferon measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008236	"quantification of the amount of monokine induced by gamma interferon in a sample" []	3179668	\N	\N	EFO	5	EFO	experimental factor	monokine induced by gamma interferon measurement
EFO:0008237	\N	\N	"quantification of some aspect of motor development, including fine and gross motor skills" []	EFO:0008237	"quantification of some aspect of motor development, including fine and gross motor skills" []	69471	\N	\N	EFO	0	EFO	motor development measurement	motor development measurement
EFO:0008245	EFO:0008237	\N	"quantification of some aspect of neurodevelopment, such as language development or fine motor skills development. Neurodevelopment scores can used as an indicator of neurodevelopmental delays." []	EFO:0008237	"quantification of some aspect of motor development, including fine and gross motor skills" []	211613	\N	\N	EFO	1	EFO	neurodevelopmental measurement	motor development measurement
EFO:0001444	EFO:0008245	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008237	"quantification of some aspect of motor development, including fine and gross motor skills" []	564883	\N	\N	EFO	2	EFO	measurement	motor development measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008237	"quantification of some aspect of motor development, including fine and gross motor skills" []	1146059	\N	\N	EFO	3	EFO	information entity	motor development measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008237	"quantification of some aspect of motor development, including fine and gross motor skills" []	2028483	\N	\N	EFO	4	EFO	experimental factor	motor development measurement
EFO:0008238	\N	\N	"quantification of the amount of myeloid cell surface antigen CD33 in a sample" []	EFO:0008238	"quantification of the amount of myeloid cell surface antigen CD33 in a sample" []	69472	\N	\N	EFO	0	EFO	myeloid cell surface antigen CD33 measurement	myeloid cell surface antigen CD33 measurement
EFO:0007937	EFO:0008238	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008238	"quantification of the amount of myeloid cell surface antigen CD33 in a sample" []	211614	\N	\N	EFO	1	EFO	blood protein measurement	myeloid cell surface antigen CD33 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008238	"quantification of the amount of myeloid cell surface antigen CD33 in a sample" []	564884	\N	\N	EFO	2	EFO	protein measurement	myeloid cell surface antigen CD33 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008238	"quantification of the amount of myeloid cell surface antigen CD33 in a sample" []	1146060	\N	\N	EFO	3	EFO	measurement	myeloid cell surface antigen CD33 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008238	"quantification of the amount of myeloid cell surface antigen CD33 in a sample" []	2028484	\N	\N	EFO	4	EFO	information entity	myeloid cell surface antigen CD33 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008238	"quantification of the amount of myeloid cell surface antigen CD33 in a sample" []	3179669	\N	\N	EFO	5	EFO	experimental factor	myeloid cell surface antigen CD33 measurement
EFO:0008239	\N	\N	"quantification of the amount of N-acetyl-D-glucosamine kinase in a sample" []	EFO:0008239	"quantification of the amount of N-acetyl-D-glucosamine kinase in a sample" []	69473	\N	\N	EFO	0	EFO	N-acetyl-D-glucosamine kinase measurement	N-acetyl-D-glucosamine kinase measurement
EFO:0007937	EFO:0008239	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008239	"quantification of the amount of N-acetyl-D-glucosamine kinase in a sample" []	211615	\N	\N	EFO	1	EFO	blood protein measurement	N-acetyl-D-glucosamine kinase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008239	"quantification of the amount of N-acetyl-D-glucosamine kinase in a sample" []	564885	\N	\N	EFO	2	EFO	protein measurement	N-acetyl-D-glucosamine kinase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008239	"quantification of the amount of N-acetyl-D-glucosamine kinase in a sample" []	1146061	\N	\N	EFO	3	EFO	measurement	N-acetyl-D-glucosamine kinase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008239	"quantification of the amount of N-acetyl-D-glucosamine kinase in a sample" []	2028485	\N	\N	EFO	4	EFO	information entity	N-acetyl-D-glucosamine kinase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008239	"quantification of the amount of N-acetyl-D-glucosamine kinase in a sample" []	3179670	\N	\N	EFO	5	EFO	experimental factor	N-acetyl-D-glucosamine kinase measurement
EFO:0008240	\N	\N	"quantification of the amount of N-acylethanolamine-hydrolyzing acid amidase in a sample" []	EFO:0008240	"quantification of the amount of N-acylethanolamine-hydrolyzing acid amidase in a sample" []	69474	\N	\N	EFO	0	EFO	N-acylethanolamine-hydrolyzing acid amidase measurement	N-acylethanolamine-hydrolyzing acid amidase measurement
EFO:0007937	EFO:0008240	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008240	"quantification of the amount of N-acylethanolamine-hydrolyzing acid amidase in a sample" []	211616	\N	\N	EFO	1	EFO	blood protein measurement	N-acylethanolamine-hydrolyzing acid amidase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008240	"quantification of the amount of N-acylethanolamine-hydrolyzing acid amidase in a sample" []	564886	\N	\N	EFO	2	EFO	protein measurement	N-acylethanolamine-hydrolyzing acid amidase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008240	"quantification of the amount of N-acylethanolamine-hydrolyzing acid amidase in a sample" []	1146062	\N	\N	EFO	3	EFO	measurement	N-acylethanolamine-hydrolyzing acid amidase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008240	"quantification of the amount of N-acylethanolamine-hydrolyzing acid amidase in a sample" []	2028486	\N	\N	EFO	4	EFO	information entity	N-acylethanolamine-hydrolyzing acid amidase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008240	"quantification of the amount of N-acylethanolamine-hydrolyzing acid amidase in a sample" []	3179671	\N	\N	EFO	5	EFO	experimental factor	N-acylethanolamine-hydrolyzing acid amidase measurement
EFO:0008241	\N	\N	"quantification of the amount of NAD-dependent protein deacetylase sirtuin-2 in a sample" []	EFO:0008241	"quantification of the amount of NAD-dependent protein deacetylase sirtuin-2 in a sample" []	69475	\N	\N	EFO	0	EFO	NAD-dependent protein deacetylase sirtuin-2 measurement	NAD-dependent protein deacetylase sirtuin-2 measurement
EFO:0007937	EFO:0008241	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008241	"quantification of the amount of NAD-dependent protein deacetylase sirtuin-2 in a sample" []	211617	\N	\N	EFO	1	EFO	blood protein measurement	NAD-dependent protein deacetylase sirtuin-2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008241	"quantification of the amount of NAD-dependent protein deacetylase sirtuin-2 in a sample" []	564887	\N	\N	EFO	2	EFO	protein measurement	NAD-dependent protein deacetylase sirtuin-2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008241	"quantification of the amount of NAD-dependent protein deacetylase sirtuin-2 in a sample" []	1146063	\N	\N	EFO	3	EFO	measurement	NAD-dependent protein deacetylase sirtuin-2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008241	"quantification of the amount of NAD-dependent protein deacetylase sirtuin-2 in a sample" []	2028487	\N	\N	EFO	4	EFO	information entity	NAD-dependent protein deacetylase sirtuin-2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008241	"quantification of the amount of NAD-dependent protein deacetylase sirtuin-2 in a sample" []	3179672	\N	\N	EFO	5	EFO	experimental factor	NAD-dependent protein deacetylase sirtuin-2 measurement
EFO:0008242	\N	\N	"quantification of the amount of NADPH--cytochrome P450 reductase in a sample" []	EFO:0008242	"quantification of the amount of NADPH--cytochrome P450 reductase in a sample" []	69476	\N	\N	EFO	0	EFO	NADPH--cytochrome P450 reductase measurement	NADPH--cytochrome P450 reductase measurement
EFO:0007937	EFO:0008242	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008242	"quantification of the amount of NADPH--cytochrome P450 reductase in a sample" []	211618	\N	\N	EFO	1	EFO	blood protein measurement	NADPH--cytochrome P450 reductase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008242	"quantification of the amount of NADPH--cytochrome P450 reductase in a sample" []	564888	\N	\N	EFO	2	EFO	protein measurement	NADPH--cytochrome P450 reductase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008242	"quantification of the amount of NADPH--cytochrome P450 reductase in a sample" []	1146064	\N	\N	EFO	3	EFO	measurement	NADPH--cytochrome P450 reductase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008242	"quantification of the amount of NADPH--cytochrome P450 reductase in a sample" []	2028488	\N	\N	EFO	4	EFO	information entity	NADPH--cytochrome P450 reductase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008242	"quantification of the amount of NADPH--cytochrome P450 reductase in a sample" []	3179673	\N	\N	EFO	5	EFO	experimental factor	NADPH--cytochrome P450 reductase measurement
EFO:0008243	\N	\N	"quantification of the amount of natural cytotoxicity triggering receptor 3 in a sample" []	EFO:0008243	"quantification of the amount of natural cytotoxicity triggering receptor 3 in a sample" []	69477	\N	\N	EFO	0	EFO	natural cytotoxicity triggering receptor 3 measurement	natural cytotoxicity triggering receptor 3 measurement
EFO:0007937	EFO:0008243	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008243	"quantification of the amount of natural cytotoxicity triggering receptor 3 in a sample" []	211619	\N	\N	EFO	1	EFO	blood protein measurement	natural cytotoxicity triggering receptor 3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008243	"quantification of the amount of natural cytotoxicity triggering receptor 3 in a sample" []	564889	\N	\N	EFO	2	EFO	protein measurement	natural cytotoxicity triggering receptor 3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008243	"quantification of the amount of natural cytotoxicity triggering receptor 3 in a sample" []	1146065	\N	\N	EFO	3	EFO	measurement	natural cytotoxicity triggering receptor 3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008243	"quantification of the amount of natural cytotoxicity triggering receptor 3 in a sample" []	2028489	\N	\N	EFO	4	EFO	information entity	natural cytotoxicity triggering receptor 3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008243	"quantification of the amount of natural cytotoxicity triggering receptor 3 in a sample" []	3179674	\N	\N	EFO	5	EFO	experimental factor	natural cytotoxicity triggering receptor 3 measurement
EFO:0008244	\N	\N	"quantification of the amount of neurexophilin-1 in a sample" []	EFO:0008244	"quantification of the amount of neurexophilin-1 in a sample" []	69478	\N	\N	EFO	0	EFO	neurexophilin-1 measurement	neurexophilin-1 measurement
EFO:0007937	EFO:0008244	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008244	"quantification of the amount of neurexophilin-1 in a sample" []	211620	\N	\N	EFO	1	EFO	blood protein measurement	neurexophilin-1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008244	"quantification of the amount of neurexophilin-1 in a sample" []	564890	\N	\N	EFO	2	EFO	protein measurement	neurexophilin-1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008244	"quantification of the amount of neurexophilin-1 in a sample" []	1146066	\N	\N	EFO	3	EFO	measurement	neurexophilin-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008244	"quantification of the amount of neurexophilin-1 in a sample" []	2028490	\N	\N	EFO	4	EFO	information entity	neurexophilin-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008244	"quantification of the amount of neurexophilin-1 in a sample" []	3179675	\N	\N	EFO	5	EFO	experimental factor	neurexophilin-1 measurement
EFO:0008245	\N	\N	"quantification of some aspect of neurodevelopment, such as language development or fine motor skills development. Neurodevelopment scores can used as an indicator of neurodevelopmental delays." []	EFO:0008245	"quantification of some aspect of neurodevelopment, such as language development or fine motor skills development. Neurodevelopment scores can used as an indicator of neurodevelopmental delays." []	69479	\N	\N	EFO	0	EFO	neurodevelopmental measurement	neurodevelopmental measurement
EFO:0001444	EFO:0008245	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008245	"quantification of some aspect of neurodevelopment, such as language development or fine motor skills development. Neurodevelopment scores can used as an indicator of neurodevelopmental delays." []	211621	\N	\N	EFO	1	EFO	measurement	neurodevelopmental measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008245	"quantification of some aspect of neurodevelopment, such as language development or fine motor skills development. Neurodevelopment scores can used as an indicator of neurodevelopmental delays." []	564891	\N	\N	EFO	2	EFO	information entity	neurodevelopmental measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008245	"quantification of some aspect of neurodevelopment, such as language development or fine motor skills development. Neurodevelopment scores can used as an indicator of neurodevelopmental delays." []	1146067	\N	\N	EFO	3	EFO	experimental factor	neurodevelopmental measurement
EFO:0008246	\N	\N	"quantification of the amount of neurogenic locus notch homolog protein 1 in a sample" []	EFO:0008246	"quantification of the amount of neurogenic locus notch homolog protein 1 in a sample" []	69480	\N	\N	EFO	0	EFO	neurogenic locus notch homolog protein 1 measurement	neurogenic locus notch homolog protein 1 measurement
EFO:0007937	EFO:0008246	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008246	"quantification of the amount of neurogenic locus notch homolog protein 1 in a sample" []	211622	\N	\N	EFO	1	EFO	blood protein measurement	neurogenic locus notch homolog protein 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008246	"quantification of the amount of neurogenic locus notch homolog protein 1 in a sample" []	564892	\N	\N	EFO	2	EFO	protein measurement	neurogenic locus notch homolog protein 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008246	"quantification of the amount of neurogenic locus notch homolog protein 1 in a sample" []	1146068	\N	\N	EFO	3	EFO	measurement	neurogenic locus notch homolog protein 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008246	"quantification of the amount of neurogenic locus notch homolog protein 1 in a sample" []	2028491	\N	\N	EFO	4	EFO	information entity	neurogenic locus notch homolog protein 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008246	"quantification of the amount of neurogenic locus notch homolog protein 1 in a sample" []	3179676	\N	\N	EFO	5	EFO	experimental factor	neurogenic locus notch homolog protein 1 measurement
EFO:0008247	\N	\N	"quantification of the amount of neutral ceramidase in a sample" []	EFO:0008247	"quantification of the amount of neutral ceramidase in a sample" []	69481	\N	\N	EFO	0	EFO	neutral ceramidase measurement	neutral ceramidase measurement
EFO:0007937	EFO:0008247	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008247	"quantification of the amount of neutral ceramidase in a sample" []	211623	\N	\N	EFO	1	EFO	blood protein measurement	neutral ceramidase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008247	"quantification of the amount of neutral ceramidase in a sample" []	564893	\N	\N	EFO	2	EFO	protein measurement	neutral ceramidase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008247	"quantification of the amount of neutral ceramidase in a sample" []	1146069	\N	\N	EFO	3	EFO	measurement	neutral ceramidase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008247	"quantification of the amount of neutral ceramidase in a sample" []	2028492	\N	\N	EFO	4	EFO	information entity	neutral ceramidase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008247	"quantification of the amount of neutral ceramidase in a sample" []	3179677	\N	\N	EFO	5	EFO	experimental factor	neutral ceramidase measurement
EFO:0008248	\N	\N	"quantification of the amount of neutrophil collagenase in a sample" []	EFO:0008248	"quantification of the amount of neutrophil collagenase in a sample" []	69482	\N	\N	EFO	0	EFO	neutrophil collagenase measurement	neutrophil collagenase measurement
EFO:0007937	EFO:0008248	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008248	"quantification of the amount of neutrophil collagenase in a sample" []	211624	\N	\N	EFO	1	EFO	blood protein measurement	neutrophil collagenase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008248	"quantification of the amount of neutrophil collagenase in a sample" []	564894	\N	\N	EFO	2	EFO	protein measurement	neutrophil collagenase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008248	"quantification of the amount of neutrophil collagenase in a sample" []	1146070	\N	\N	EFO	3	EFO	measurement	neutrophil collagenase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008248	"quantification of the amount of neutrophil collagenase in a sample" []	2028493	\N	\N	EFO	4	EFO	information entity	neutrophil collagenase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008248	"quantification of the amount of neutrophil collagenase in a sample" []	3179678	\N	\N	EFO	5	EFO	experimental factor	neutrophil collagenase measurement
EFO:0008249	\N	\N	"quantification of the amount of nidogen-1 in a sample" []	EFO:0008249	"quantification of the amount of nidogen-1 in a sample" []	69483	\N	\N	EFO	0	EFO	nidogen-1 measurement	nidogen-1 measurement
EFO:0007937	EFO:0008249	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008249	"quantification of the amount of nidogen-1 in a sample" []	211625	\N	\N	EFO	1	EFO	blood protein measurement	nidogen-1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008249	"quantification of the amount of nidogen-1 in a sample" []	564895	\N	\N	EFO	2	EFO	protein measurement	nidogen-1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008249	"quantification of the amount of nidogen-1 in a sample" []	1146071	\N	\N	EFO	3	EFO	measurement	nidogen-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008249	"quantification of the amount of nidogen-1 in a sample" []	2028494	\N	\N	EFO	4	EFO	information entity	nidogen-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008249	"quantification of the amount of nidogen-1 in a sample" []	3179679	\N	\N	EFO	5	EFO	experimental factor	nidogen-1 measurement
EFO:0008250	\N	\N	"quantification of the amount of NKG2-D type II integral membrane protein in a sample" []	EFO:0008250	"quantification of the amount of NKG2-D type II integral membrane protein in a sample" []	69484	\N	\N	EFO	0	EFO	NKG2-D type II integral membrane protein measurement	NKG2-D type II integral membrane protein measurement
EFO:0007937	EFO:0008250	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008250	"quantification of the amount of NKG2-D type II integral membrane protein in a sample" []	211626	\N	\N	EFO	1	EFO	blood protein measurement	NKG2-D type II integral membrane protein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008250	"quantification of the amount of NKG2-D type II integral membrane protein in a sample" []	564896	\N	\N	EFO	2	EFO	protein measurement	NKG2-D type II integral membrane protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008250	"quantification of the amount of NKG2-D type II integral membrane protein in a sample" []	1146072	\N	\N	EFO	3	EFO	measurement	NKG2-D type II integral membrane protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008250	"quantification of the amount of NKG2-D type II integral membrane protein in a sample" []	2028495	\N	\N	EFO	4	EFO	information entity	NKG2-D type II integral membrane protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008250	"quantification of the amount of NKG2-D type II integral membrane protein in a sample" []	3179680	\N	\N	EFO	5	EFO	experimental factor	NKG2-D type II integral membrane protein measurement
EFO:0008251	\N	\N	"quantification of the amount of non-receptor tyrosine-protein kinase TYK2 in a sample" []	EFO:0008251	"quantification of the amount of non-receptor tyrosine-protein kinase TYK2 in a sample" []	69485	\N	\N	EFO	0	EFO	non-receptor tyrosine-protein kinase TYK2 measurement	non-receptor tyrosine-protein kinase TYK2 measurement
EFO:0007937	EFO:0008251	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008251	"quantification of the amount of non-receptor tyrosine-protein kinase TYK2 in a sample" []	211627	\N	\N	EFO	1	EFO	blood protein measurement	non-receptor tyrosine-protein kinase TYK2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008251	"quantification of the amount of non-receptor tyrosine-protein kinase TYK2 in a sample" []	564897	\N	\N	EFO	2	EFO	protein measurement	non-receptor tyrosine-protein kinase TYK2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008251	"quantification of the amount of non-receptor tyrosine-protein kinase TYK2 in a sample" []	1146073	\N	\N	EFO	3	EFO	measurement	non-receptor tyrosine-protein kinase TYK2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008251	"quantification of the amount of non-receptor tyrosine-protein kinase TYK2 in a sample" []	2028496	\N	\N	EFO	4	EFO	information entity	non-receptor tyrosine-protein kinase TYK2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008251	"quantification of the amount of non-receptor tyrosine-protein kinase TYK2 in a sample" []	3179681	\N	\N	EFO	5	EFO	experimental factor	non-receptor tyrosine-protein kinase TYK2 measurement
EFO:0008252	\N	\N	"quantification of the amount of OCIA domain-containing protein 1 in a sample" []	EFO:0008252	"quantification of the amount of OCIA domain-containing protein 1 in a sample" []	69486	\N	\N	EFO	0	EFO	OCIA domain-containing protein 1 measurement	OCIA domain-containing protein 1 measurement
EFO:0007937	EFO:0008252	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008252	"quantification of the amount of OCIA domain-containing protein 1 in a sample" []	211628	\N	\N	EFO	1	EFO	blood protein measurement	OCIA domain-containing protein 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008252	"quantification of the amount of OCIA domain-containing protein 1 in a sample" []	564898	\N	\N	EFO	2	EFO	protein measurement	OCIA domain-containing protein 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008252	"quantification of the amount of OCIA domain-containing protein 1 in a sample" []	1146074	\N	\N	EFO	3	EFO	measurement	OCIA domain-containing protein 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008252	"quantification of the amount of OCIA domain-containing protein 1 in a sample" []	2028497	\N	\N	EFO	4	EFO	information entity	OCIA domain-containing protein 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008252	"quantification of the amount of OCIA domain-containing protein 1 in a sample" []	3179682	\N	\N	EFO	5	EFO	experimental factor	OCIA domain-containing protein 1 measurement
EFO:0008253	\N	\N	"quantification of the amount of OX-2 membrane glycoprotein in a sample" []	EFO:0008253	"quantification of the amount of OX-2 membrane glycoprotein in a sample" []	69487	\N	\N	EFO	0	EFO	OX-2 membrane glycoprotein measurement	OX-2 membrane glycoprotein measurement
EFO:0007937	EFO:0008253	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008253	"quantification of the amount of OX-2 membrane glycoprotein in a sample" []	211629	\N	\N	EFO	1	EFO	blood protein measurement	OX-2 membrane glycoprotein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008253	"quantification of the amount of OX-2 membrane glycoprotein in a sample" []	564899	\N	\N	EFO	2	EFO	protein measurement	OX-2 membrane glycoprotein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008253	"quantification of the amount of OX-2 membrane glycoprotein in a sample" []	1146075	\N	\N	EFO	3	EFO	measurement	OX-2 membrane glycoprotein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008253	"quantification of the amount of OX-2 membrane glycoprotein in a sample" []	2028498	\N	\N	EFO	4	EFO	information entity	OX-2 membrane glycoprotein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008253	"quantification of the amount of OX-2 membrane glycoprotein in a sample" []	3179683	\N	\N	EFO	5	EFO	experimental factor	OX-2 membrane glycoprotein measurement
EFO:0008254	\N	\N	"quantification of the amount of P-Selectin in a sample" []	EFO:0008254	"quantification of the amount of P-Selectin in a sample" []	69488	\N	\N	EFO	0	EFO	P-Selectin measurement	P-Selectin measurement
EFO:0007937	EFO:0008254	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008254	"quantification of the amount of P-Selectin in a sample" []	211630	\N	\N	EFO	1	EFO	blood protein measurement	P-Selectin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008254	"quantification of the amount of P-Selectin in a sample" []	564900	\N	\N	EFO	2	EFO	protein measurement	P-Selectin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008254	"quantification of the amount of P-Selectin in a sample" []	1146076	\N	\N	EFO	3	EFO	measurement	P-Selectin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008254	"quantification of the amount of P-Selectin in a sample" []	2028499	\N	\N	EFO	4	EFO	information entity	P-Selectin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008254	"quantification of the amount of P-Selectin in a sample" []	3179684	\N	\N	EFO	5	EFO	experimental factor	P-Selectin measurement
EFO:0008255	\N	\N	"quantification of some aspect of particulate matter air pollution, such as daily levels of exposure" []	EFO:0008255	"quantification of some aspect of particulate matter air pollution, such as daily levels of exposure" []	69489	\N	\N	EFO	0	EFO	particulate matter air pollution measurement	particulate matter air pollution measurement
EFO:0008360	EFO:0008255	\N	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	EFO:0008255	"quantification of some aspect of particulate matter air pollution, such as daily levels of exposure" []	211631	\N	\N	EFO	1	EFO	environmental exposure measurement	particulate matter air pollution measurement
EFO:0001444	EFO:0008360	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008255	"quantification of some aspect of particulate matter air pollution, such as daily levels of exposure" []	564901	\N	\N	EFO	2	EFO	measurement	particulate matter air pollution measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008255	"quantification of some aspect of particulate matter air pollution, such as daily levels of exposure" []	1146077	\N	\N	EFO	3	EFO	information entity	particulate matter air pollution measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008255	"quantification of some aspect of particulate matter air pollution, such as daily levels of exposure" []	2028500	\N	\N	EFO	4	EFO	experimental factor	particulate matter air pollution measurement
EFO:0008256	\N	\N	"quantification of the amount of peptidyl-prolyl cis-trans isomerase D in a sample" []	EFO:0008256	"quantification of the amount of peptidyl-prolyl cis-trans isomerase D in a sample" []	69490	\N	\N	EFO	0	EFO	peptidyl-prolyl cis-trans isomerase D measurement	peptidyl-prolyl cis-trans isomerase D measurement
EFO:0007937	EFO:0008256	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008256	"quantification of the amount of peptidyl-prolyl cis-trans isomerase D in a sample" []	211632	\N	\N	EFO	1	EFO	blood protein measurement	peptidyl-prolyl cis-trans isomerase D measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008256	"quantification of the amount of peptidyl-prolyl cis-trans isomerase D in a sample" []	564902	\N	\N	EFO	2	EFO	protein measurement	peptidyl-prolyl cis-trans isomerase D measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008256	"quantification of the amount of peptidyl-prolyl cis-trans isomerase D in a sample" []	1146078	\N	\N	EFO	3	EFO	measurement	peptidyl-prolyl cis-trans isomerase D measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008256	"quantification of the amount of peptidyl-prolyl cis-trans isomerase D in a sample" []	2028501	\N	\N	EFO	4	EFO	information entity	peptidyl-prolyl cis-trans isomerase D measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008256	"quantification of the amount of peptidyl-prolyl cis-trans isomerase D in a sample" []	3179685	\N	\N	EFO	5	EFO	experimental factor	peptidyl-prolyl cis-trans isomerase D measurement
EFO:0008257	\N	\N	"quantification of the amount of peptidyl-prolyl cis-trans isomerase E in a sample" []	EFO:0008257	"quantification of the amount of peptidyl-prolyl cis-trans isomerase E in a sample" []	69491	\N	\N	EFO	0	EFO	peptidyl-prolyl cis-trans isomerase E measurement	peptidyl-prolyl cis-trans isomerase E measurement
EFO:0007937	EFO:0008257	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008257	"quantification of the amount of peptidyl-prolyl cis-trans isomerase E in a sample" []	211633	\N	\N	EFO	1	EFO	blood protein measurement	peptidyl-prolyl cis-trans isomerase E measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008257	"quantification of the amount of peptidyl-prolyl cis-trans isomerase E in a sample" []	564903	\N	\N	EFO	2	EFO	protein measurement	peptidyl-prolyl cis-trans isomerase E measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008257	"quantification of the amount of peptidyl-prolyl cis-trans isomerase E in a sample" []	1146079	\N	\N	EFO	3	EFO	measurement	peptidyl-prolyl cis-trans isomerase E measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008257	"quantification of the amount of peptidyl-prolyl cis-trans isomerase E in a sample" []	2028502	\N	\N	EFO	4	EFO	information entity	peptidyl-prolyl cis-trans isomerase E measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008257	"quantification of the amount of peptidyl-prolyl cis-trans isomerase E in a sample" []	3179686	\N	\N	EFO	5	EFO	experimental factor	peptidyl-prolyl cis-trans isomerase E measurement
EFO:0008258	\N	\N	"quantification of the amount of persulfide dioxygenase ETHE1, mitochondrial in a sample" []	EFO:0008258	"quantification of the amount of persulfide dioxygenase ETHE1, mitochondrial in a sample" []	69492	\N	\N	EFO	0	EFO	persulfide dioxygenase ETHE1, mitochondrial measurement	persulfide dioxygenase ETHE1, mitochondrial measurement
EFO:0007937	EFO:0008258	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008258	"quantification of the amount of persulfide dioxygenase ETHE1, mitochondrial in a sample" []	211634	\N	\N	EFO	1	EFO	blood protein measurement	persulfide dioxygenase ETHE1, mitochondrial measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008258	"quantification of the amount of persulfide dioxygenase ETHE1, mitochondrial in a sample" []	564904	\N	\N	EFO	2	EFO	protein measurement	persulfide dioxygenase ETHE1, mitochondrial measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008258	"quantification of the amount of persulfide dioxygenase ETHE1, mitochondrial in a sample" []	1146080	\N	\N	EFO	3	EFO	measurement	persulfide dioxygenase ETHE1, mitochondrial measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008258	"quantification of the amount of persulfide dioxygenase ETHE1, mitochondrial in a sample" []	2028503	\N	\N	EFO	4	EFO	information entity	persulfide dioxygenase ETHE1, mitochondrial measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008258	"quantification of the amount of persulfide dioxygenase ETHE1, mitochondrial in a sample" []	3179687	\N	\N	EFO	5	EFO	experimental factor	persulfide dioxygenase ETHE1, mitochondrial measurement
EFO:0008259	\N	\N	"quantification of the amount of phospholipase A2, membrane associated in a sample" []	EFO:0008259	"quantification of the amount of phospholipase A2, membrane associated in a sample" []	69493	\N	\N	EFO	0	EFO	phospholipase A2, membrane associated measurement	phospholipase A2, membrane associated measurement
EFO:0007937	EFO:0008259	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008259	"quantification of the amount of phospholipase A2, membrane associated in a sample" []	211635	\N	\N	EFO	1	EFO	blood protein measurement	phospholipase A2, membrane associated measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008259	"quantification of the amount of phospholipase A2, membrane associated in a sample" []	564905	\N	\N	EFO	2	EFO	protein measurement	phospholipase A2, membrane associated measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008259	"quantification of the amount of phospholipase A2, membrane associated in a sample" []	1146081	\N	\N	EFO	3	EFO	measurement	phospholipase A2, membrane associated measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008259	"quantification of the amount of phospholipase A2, membrane associated in a sample" []	2028504	\N	\N	EFO	4	EFO	information entity	phospholipase A2, membrane associated measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008259	"quantification of the amount of phospholipase A2, membrane associated in a sample" []	3179688	\N	\N	EFO	5	EFO	experimental factor	phospholipase A2, membrane associated measurement
EFO:0008260	\N	\N	"quantification of the amount of plasma kallikrein in a sample" []	EFO:0008260	"quantification of the amount of plasma kallikrein in a sample" []	69494	\N	\N	EFO	0	EFO	plasma kallikrein measurement	plasma kallikrein measurement
EFO:0007937	EFO:0008260	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008260	"quantification of the amount of plasma kallikrein in a sample" []	211636	\N	\N	EFO	1	EFO	blood protein measurement	plasma kallikrein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008260	"quantification of the amount of plasma kallikrein in a sample" []	564906	\N	\N	EFO	2	EFO	protein measurement	plasma kallikrein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008260	"quantification of the amount of plasma kallikrein in a sample" []	1146082	\N	\N	EFO	3	EFO	measurement	plasma kallikrein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008260	"quantification of the amount of plasma kallikrein in a sample" []	2028505	\N	\N	EFO	4	EFO	information entity	plasma kallikrein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008260	"quantification of the amount of plasma kallikrein in a sample" []	3179689	\N	\N	EFO	5	EFO	experimental factor	plasma kallikrein measurement
EFO:0008261	\N	\N	"quantification of the amount of plasma protease C1 inhibitor in a sample" []	EFO:0008261	"quantification of the amount of plasma protease C1 inhibitor in a sample" []	69495	\N	\N	EFO	0	EFO	plasma protease C1 inhibitor measurement	plasma protease C1 inhibitor measurement
EFO:0007937	EFO:0008261	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008261	"quantification of the amount of plasma protease C1 inhibitor in a sample" []	211637	\N	\N	EFO	1	EFO	blood protein measurement	plasma protease C1 inhibitor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008261	"quantification of the amount of plasma protease C1 inhibitor in a sample" []	564907	\N	\N	EFO	2	EFO	protein measurement	plasma protease C1 inhibitor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008261	"quantification of the amount of plasma protease C1 inhibitor in a sample" []	1146083	\N	\N	EFO	3	EFO	measurement	plasma protease C1 inhibitor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008261	"quantification of the amount of plasma protease C1 inhibitor in a sample" []	2028506	\N	\N	EFO	4	EFO	information entity	plasma protease C1 inhibitor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008261	"quantification of the amount of plasma protease C1 inhibitor in a sample" []	3179690	\N	\N	EFO	5	EFO	experimental factor	plasma protease C1 inhibitor measurement
EFO:0008262	\N	\N	"quantification of the amount of platelet glycoprotein 4 in a sample" []	EFO:0008262	"quantification of the amount of platelet glycoprotein 4 in a sample" []	69496	\N	\N	EFO	0	EFO	platelet glycoprotein 4 measurement	platelet glycoprotein 4 measurement
EFO:0007937	EFO:0008262	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008262	"quantification of the amount of platelet glycoprotein 4 in a sample" []	211638	\N	\N	EFO	1	EFO	blood protein measurement	platelet glycoprotein 4 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008262	"quantification of the amount of platelet glycoprotein 4 in a sample" []	564908	\N	\N	EFO	2	EFO	protein measurement	platelet glycoprotein 4 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008262	"quantification of the amount of platelet glycoprotein 4 in a sample" []	1146084	\N	\N	EFO	3	EFO	measurement	platelet glycoprotein 4 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008262	"quantification of the amount of platelet glycoprotein 4 in a sample" []	2028507	\N	\N	EFO	4	EFO	information entity	platelet glycoprotein 4 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008262	"quantification of the amount of platelet glycoprotein 4 in a sample" []	3179691	\N	\N	EFO	5	EFO	experimental factor	platelet glycoprotein 4 measurement
EFO:0008263	\N	\N	"quantification of the amount of platelet glycoprotein VI in a sample" []	EFO:0008263	"quantification of the amount of platelet glycoprotein VI in a sample" []	69497	\N	\N	EFO	0	EFO	platelet glycoprotein VI measurement	platelet glycoprotein VI measurement
EFO:0007937	EFO:0008263	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008263	"quantification of the amount of platelet glycoprotein VI in a sample" []	211639	\N	\N	EFO	1	EFO	blood protein measurement	platelet glycoprotein VI measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008263	"quantification of the amount of platelet glycoprotein VI in a sample" []	564909	\N	\N	EFO	2	EFO	protein measurement	platelet glycoprotein VI measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008263	"quantification of the amount of platelet glycoprotein VI in a sample" []	1146085	\N	\N	EFO	3	EFO	measurement	platelet glycoprotein VI measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008263	"quantification of the amount of platelet glycoprotein VI in a sample" []	2028508	\N	\N	EFO	4	EFO	information entity	platelet glycoprotein VI measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008263	"quantification of the amount of platelet glycoprotein VI in a sample" []	3179692	\N	\N	EFO	5	EFO	experimental factor	platelet glycoprotein VI measurement
EFO:0008264	\N	\N	"quantification of the amount of platelet-derived growth factor BB in a sample" []	EFO:0008264	"quantification of the amount of platelet-derived growth factor BB in a sample" []	69498	\N	\N	EFO	0	EFO	platelet-derived growth factor BB measurement	platelet-derived growth factor BB measurement
EFO:0007937	EFO:0008264	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008264	"quantification of the amount of platelet-derived growth factor BB in a sample" []	211640	\N	\N	EFO	1	EFO	blood protein measurement	platelet-derived growth factor BB measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008264	"quantification of the amount of platelet-derived growth factor BB in a sample" []	564910	\N	\N	EFO	2	EFO	protein measurement	platelet-derived growth factor BB measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008264	"quantification of the amount of platelet-derived growth factor BB in a sample" []	1146086	\N	\N	EFO	3	EFO	measurement	platelet-derived growth factor BB measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008264	"quantification of the amount of platelet-derived growth factor BB in a sample" []	2028509	\N	\N	EFO	4	EFO	information entity	platelet-derived growth factor BB measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008264	"quantification of the amount of platelet-derived growth factor BB in a sample" []	3179693	\N	\N	EFO	5	EFO	experimental factor	platelet-derived growth factor BB measurement
EFO:0008265	\N	\N	"quantification of the amount of platelet-derived growth factor receptor beta in a sample" []	EFO:0008265	"quantification of the amount of platelet-derived growth factor receptor beta in a sample" []	69499	\N	\N	EFO	0	EFO	platelet-derived growth factor receptor beta measurement	platelet-derived growth factor receptor beta measurement
EFO:0007937	EFO:0008265	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008265	"quantification of the amount of platelet-derived growth factor receptor beta in a sample" []	211641	\N	\N	EFO	1	EFO	blood protein measurement	platelet-derived growth factor receptor beta measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008265	"quantification of the amount of platelet-derived growth factor receptor beta in a sample" []	564911	\N	\N	EFO	2	EFO	protein measurement	platelet-derived growth factor receptor beta measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008265	"quantification of the amount of platelet-derived growth factor receptor beta in a sample" []	1146087	\N	\N	EFO	3	EFO	measurement	platelet-derived growth factor receptor beta measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008265	"quantification of the amount of platelet-derived growth factor receptor beta in a sample" []	2028510	\N	\N	EFO	4	EFO	information entity	platelet-derived growth factor receptor beta measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008265	"quantification of the amount of platelet-derived growth factor receptor beta in a sample" []	3179694	\N	\N	EFO	5	EFO	experimental factor	platelet-derived growth factor receptor beta measurement
EFO:0008266	\N	\N	"quantification of the amount of plexin-C1 in a sample" []	EFO:0008266	"quantification of the amount of plexin-C1 in a sample" []	69500	\N	\N	EFO	0	EFO	plexin-C1 measurement	plexin-C1 measurement
EFO:0007937	EFO:0008266	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008266	"quantification of the amount of plexin-C1 in a sample" []	211642	\N	\N	EFO	1	EFO	blood protein measurement	plexin-C1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008266	"quantification of the amount of plexin-C1 in a sample" []	564912	\N	\N	EFO	2	EFO	protein measurement	plexin-C1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008266	"quantification of the amount of plexin-C1 in a sample" []	1146088	\N	\N	EFO	3	EFO	measurement	plexin-C1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008266	"quantification of the amount of plexin-C1 in a sample" []	2028511	\N	\N	EFO	4	EFO	information entity	plexin-C1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008266	"quantification of the amount of plexin-C1 in a sample" []	3179695	\N	\N	EFO	5	EFO	experimental factor	plexin-C1 measurement
EFO:0008267	\N	\N	"quantification of the amount of polymeric immunoglobulin receptor in a sample" []	EFO:0008267	"quantification of the amount of polymeric immunoglobulin receptor in a sample" []	69501	\N	\N	EFO	0	EFO	polymeric immunoglobulin receptor measurement	polymeric immunoglobulin receptor measurement
EFO:0007937	EFO:0008267	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008267	"quantification of the amount of polymeric immunoglobulin receptor in a sample" []	211643	\N	\N	EFO	1	EFO	blood protein measurement	polymeric immunoglobulin receptor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008267	"quantification of the amount of polymeric immunoglobulin receptor in a sample" []	564913	\N	\N	EFO	2	EFO	protein measurement	polymeric immunoglobulin receptor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008267	"quantification of the amount of polymeric immunoglobulin receptor in a sample" []	1146089	\N	\N	EFO	3	EFO	measurement	polymeric immunoglobulin receptor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008267	"quantification of the amount of polymeric immunoglobulin receptor in a sample" []	2028512	\N	\N	EFO	4	EFO	information entity	polymeric immunoglobulin receptor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008267	"quantification of the amount of polymeric immunoglobulin receptor in a sample" []	3179696	\N	\N	EFO	5	EFO	experimental factor	polymeric immunoglobulin receptor measurement
EFO:0008268	\N	\N	"quantification of the amount of programmed cell death 1 ligand 2 in a sample" []	EFO:0008268	"quantification of the amount of programmed cell death 1 ligand 2 in a sample" []	69502	\N	\N	EFO	0	EFO	programmed cell death 1 ligand 2 measurement	programmed cell death 1 ligand 2 measurement
EFO:0007937	EFO:0008268	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008268	"quantification of the amount of programmed cell death 1 ligand 2 in a sample" []	211644	\N	\N	EFO	1	EFO	blood protein measurement	programmed cell death 1 ligand 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008268	"quantification of the amount of programmed cell death 1 ligand 2 in a sample" []	564914	\N	\N	EFO	2	EFO	protein measurement	programmed cell death 1 ligand 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008268	"quantification of the amount of programmed cell death 1 ligand 2 in a sample" []	1146090	\N	\N	EFO	3	EFO	measurement	programmed cell death 1 ligand 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008268	"quantification of the amount of programmed cell death 1 ligand 2 in a sample" []	2028513	\N	\N	EFO	4	EFO	information entity	programmed cell death 1 ligand 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008268	"quantification of the amount of programmed cell death 1 ligand 2 in a sample" []	3179697	\N	\N	EFO	5	EFO	experimental factor	programmed cell death 1 ligand 2 measurement
EFO:0008269	\N	\N	"quantification of the amount of properdin in a sample" []	EFO:0008269	"quantification of the amount of properdin in a sample" []	69503	\N	\N	EFO	0	EFO	properdin measurement	properdin measurement
EFO:0007937	EFO:0008269	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008269	"quantification of the amount of properdin in a sample" []	211645	\N	\N	EFO	1	EFO	blood protein measurement	properdin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008269	"quantification of the amount of properdin in a sample" []	564915	\N	\N	EFO	2	EFO	protein measurement	properdin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008269	"quantification of the amount of properdin in a sample" []	1146091	\N	\N	EFO	3	EFO	measurement	properdin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008269	"quantification of the amount of properdin in a sample" []	2028514	\N	\N	EFO	4	EFO	information entity	properdin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008269	"quantification of the amount of properdin in a sample" []	3179698	\N	\N	EFO	5	EFO	experimental factor	properdin measurement
EFO:0008270	\N	\N	"quantification of the amount of proprotein convertase subtilisin/kexin type 7 in a sample" []	EFO:0008270	"quantification of the amount of proprotein convertase subtilisin/kexin type 7 in a sample" []	69504	\N	\N	EFO	0	EFO	proprotein convertase subtilisin/kexin type 7 measurement	proprotein convertase subtilisin/kexin type 7 measurement
EFO:0007937	EFO:0008270	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008270	"quantification of the amount of proprotein convertase subtilisin/kexin type 7 in a sample" []	211646	\N	\N	EFO	1	EFO	blood protein measurement	proprotein convertase subtilisin/kexin type 7 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008270	"quantification of the amount of proprotein convertase subtilisin/kexin type 7 in a sample" []	564916	\N	\N	EFO	2	EFO	protein measurement	proprotein convertase subtilisin/kexin type 7 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008270	"quantification of the amount of proprotein convertase subtilisin/kexin type 7 in a sample" []	1146092	\N	\N	EFO	3	EFO	measurement	proprotein convertase subtilisin/kexin type 7 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008270	"quantification of the amount of proprotein convertase subtilisin/kexin type 7 in a sample" []	2028515	\N	\N	EFO	4	EFO	information entity	proprotein convertase subtilisin/kexin type 7 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008270	"quantification of the amount of proprotein convertase subtilisin/kexin type 7 in a sample" []	3179699	\N	\N	EFO	5	EFO	experimental factor	proprotein convertase subtilisin/kexin type 7 measurement
EFO:0008271	\N	\N	"quantification of the amount of protein jagged-1 in a sample" []	EFO:0008271	"quantification of the amount of protein jagged-1 in a sample" []	69505	\N	\N	EFO	0	EFO	protein jagged-1 measurement	protein jagged-1 measurement
EFO:0007937	EFO:0008271	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008271	"quantification of the amount of protein jagged-1 in a sample" []	211647	\N	\N	EFO	1	EFO	blood protein measurement	protein jagged-1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008271	"quantification of the amount of protein jagged-1 in a sample" []	564917	\N	\N	EFO	2	EFO	protein measurement	protein jagged-1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008271	"quantification of the amount of protein jagged-1 in a sample" []	1146093	\N	\N	EFO	3	EFO	measurement	protein jagged-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008271	"quantification of the amount of protein jagged-1 in a sample" []	2028516	\N	\N	EFO	4	EFO	information entity	protein jagged-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008271	"quantification of the amount of protein jagged-1 in a sample" []	3179700	\N	\N	EFO	5	EFO	experimental factor	protein jagged-1 measurement
EFO:0008272	\N	\N	"quantification of the amount of proto-oncogene tyrosine-protein kinase receptor Ret in a sample" []	EFO:0008272	"quantification of the amount of proto-oncogene tyrosine-protein kinase receptor Ret in a sample" []	69506	\N	\N	EFO	0	EFO	proto-oncogene tyrosine-protein kinase receptor Ret measurement	proto-oncogene tyrosine-protein kinase receptor Ret measurement
EFO:0007937	EFO:0008272	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008272	"quantification of the amount of proto-oncogene tyrosine-protein kinase receptor Ret in a sample" []	211648	\N	\N	EFO	1	EFO	blood protein measurement	proto-oncogene tyrosine-protein kinase receptor Ret measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008272	"quantification of the amount of proto-oncogene tyrosine-protein kinase receptor Ret in a sample" []	564918	\N	\N	EFO	2	EFO	protein measurement	proto-oncogene tyrosine-protein kinase receptor Ret measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008272	"quantification of the amount of proto-oncogene tyrosine-protein kinase receptor Ret in a sample" []	1146094	\N	\N	EFO	3	EFO	measurement	proto-oncogene tyrosine-protein kinase receptor Ret measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008272	"quantification of the amount of proto-oncogene tyrosine-protein kinase receptor Ret in a sample" []	2028517	\N	\N	EFO	4	EFO	information entity	proto-oncogene tyrosine-protein kinase receptor Ret measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008272	"quantification of the amount of proto-oncogene tyrosine-protein kinase receptor Ret in a sample" []	3179701	\N	\N	EFO	5	EFO	experimental factor	proto-oncogene tyrosine-protein kinase receptor Ret measurement
EFO:0008273	\N	\N	"quantification of the amount of repulsive guidance molecule A in a sample" []	EFO:0008273	"quantification of the amount of repulsive guidance molecule A in a sample" []	69507	\N	\N	EFO	0	EFO	repulsive guidance molecule A measurement	repulsive guidance molecule A measurement
EFO:0007937	EFO:0008273	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008273	"quantification of the amount of repulsive guidance molecule A in a sample" []	211649	\N	\N	EFO	1	EFO	blood protein measurement	repulsive guidance molecule A measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008273	"quantification of the amount of repulsive guidance molecule A in a sample" []	564919	\N	\N	EFO	2	EFO	protein measurement	repulsive guidance molecule A measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008273	"quantification of the amount of repulsive guidance molecule A in a sample" []	1146095	\N	\N	EFO	3	EFO	measurement	repulsive guidance molecule A measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008273	"quantification of the amount of repulsive guidance molecule A in a sample" []	2028518	\N	\N	EFO	4	EFO	information entity	repulsive guidance molecule A measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008273	"quantification of the amount of repulsive guidance molecule A in a sample" []	3179702	\N	\N	EFO	5	EFO	experimental factor	repulsive guidance molecule A measurement
EFO:0008274	\N	\N	"quantification of the amount of retinoic acid receptor responder protein 2 in a sample" []	EFO:0008274	"quantification of the amount of retinoic acid receptor responder protein 2 in a sample" []	69508	\N	\N	EFO	0	EFO	retinoic acid receptor responder protein 2 measurement	retinoic acid receptor responder protein 2 measurement
EFO:0007937	EFO:0008274	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008274	"quantification of the amount of retinoic acid receptor responder protein 2 in a sample" []	211650	\N	\N	EFO	1	EFO	blood protein measurement	retinoic acid receptor responder protein 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008274	"quantification of the amount of retinoic acid receptor responder protein 2 in a sample" []	564920	\N	\N	EFO	2	EFO	protein measurement	retinoic acid receptor responder protein 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008274	"quantification of the amount of retinoic acid receptor responder protein 2 in a sample" []	1146096	\N	\N	EFO	3	EFO	measurement	retinoic acid receptor responder protein 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008274	"quantification of the amount of retinoic acid receptor responder protein 2 in a sample" []	2028519	\N	\N	EFO	4	EFO	information entity	retinoic acid receptor responder protein 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008274	"quantification of the amount of retinoic acid receptor responder protein 2 in a sample" []	3179703	\N	\N	EFO	5	EFO	experimental factor	retinoic acid receptor responder protein 2 measurement
EFO:0008275	\N	\N	"quantification of the amount of S-formylglutathione hydrolase in a sample" []	EFO:0008275	"quantification of the amount of S-formylglutathione hydrolase in a sample" []	69509	\N	\N	EFO	0	EFO	S-formylglutathione hydrolase measurement	S-formylglutathione hydrolase measurement
EFO:0007937	EFO:0008275	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008275	"quantification of the amount of S-formylglutathione hydrolase in a sample" []	211651	\N	\N	EFO	1	EFO	blood protein measurement	S-formylglutathione hydrolase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008275	"quantification of the amount of S-formylglutathione hydrolase in a sample" []	564921	\N	\N	EFO	2	EFO	protein measurement	S-formylglutathione hydrolase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008275	"quantification of the amount of S-formylglutathione hydrolase in a sample" []	1146097	\N	\N	EFO	3	EFO	measurement	S-formylglutathione hydrolase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008275	"quantification of the amount of S-formylglutathione hydrolase in a sample" []	2028520	\N	\N	EFO	4	EFO	information entity	S-formylglutathione hydrolase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008275	"quantification of the amount of S-formylglutathione hydrolase in a sample" []	3179704	\N	\N	EFO	5	EFO	experimental factor	S-formylglutathione hydrolase measurement
EFO:0008276	\N	\N	"quantification of the amount of scavenger receptor class F member 1 in a sample" []	EFO:0008276	"quantification of the amount of scavenger receptor class F member 1 in a sample" []	69510	\N	\N	EFO	0	EFO	scavenger receptor class F member 1 measurement	scavenger receptor class F member 1 measurement
EFO:0007937	EFO:0008276	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008276	"quantification of the amount of scavenger receptor class F member 1 in a sample" []	211652	\N	\N	EFO	1	EFO	blood protein measurement	scavenger receptor class F member 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008276	"quantification of the amount of scavenger receptor class F member 1 in a sample" []	564922	\N	\N	EFO	2	EFO	protein measurement	scavenger receptor class F member 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008276	"quantification of the amount of scavenger receptor class F member 1 in a sample" []	1146098	\N	\N	EFO	3	EFO	measurement	scavenger receptor class F member 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008276	"quantification of the amount of scavenger receptor class F member 1 in a sample" []	2028521	\N	\N	EFO	4	EFO	information entity	scavenger receptor class F member 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008276	"quantification of the amount of scavenger receptor class F member 1 in a sample" []	3179705	\N	\N	EFO	5	EFO	experimental factor	scavenger receptor class F member 1 measurement
EFO:0008277	\N	\N	"quantification of the amount of Secreted frizzled-related protein 3 in a sample" []	EFO:0008277	"quantification of the amount of Secreted frizzled-related protein 3 in a sample" []	69511	\N	\N	EFO	0	EFO	Secreted frizzled-related protein 3 measurement	Secreted frizzled-related protein 3 measurement
EFO:0007937	EFO:0008277	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008277	"quantification of the amount of Secreted frizzled-related protein 3 in a sample" []	211653	\N	\N	EFO	1	EFO	blood protein measurement	Secreted frizzled-related protein 3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008277	"quantification of the amount of Secreted frizzled-related protein 3 in a sample" []	564923	\N	\N	EFO	2	EFO	protein measurement	Secreted frizzled-related protein 3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008277	"quantification of the amount of Secreted frizzled-related protein 3 in a sample" []	1146099	\N	\N	EFO	3	EFO	measurement	Secreted frizzled-related protein 3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008277	"quantification of the amount of Secreted frizzled-related protein 3 in a sample" []	2028522	\N	\N	EFO	4	EFO	information entity	Secreted frizzled-related protein 3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008277	"quantification of the amount of Secreted frizzled-related protein 3 in a sample" []	3179706	\N	\N	EFO	5	EFO	experimental factor	Secreted frizzled-related protein 3 measurement
EFO:0008278	\N	\N	"quantification of the amount of semaphorin-3A in a sample" []	EFO:0008278	"quantification of the amount of semaphorin-3A in a sample" []	69512	\N	\N	EFO	0	EFO	semaphorin-3A measurement	semaphorin-3A measurement
EFO:0007937	EFO:0008278	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008278	"quantification of the amount of semaphorin-3A in a sample" []	211654	\N	\N	EFO	1	EFO	blood protein measurement	semaphorin-3A measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008278	"quantification of the amount of semaphorin-3A in a sample" []	564924	\N	\N	EFO	2	EFO	protein measurement	semaphorin-3A measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008278	"quantification of the amount of semaphorin-3A in a sample" []	1146100	\N	\N	EFO	3	EFO	measurement	semaphorin-3A measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008278	"quantification of the amount of semaphorin-3A in a sample" []	2028523	\N	\N	EFO	4	EFO	information entity	semaphorin-3A measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008278	"quantification of the amount of semaphorin-3A in a sample" []	3179707	\N	\N	EFO	5	EFO	experimental factor	semaphorin-3A measurement
EFO:0008279	\N	\N	"quantification of the amount of semaphorin-3E in a sample" []	EFO:0008279	"quantification of the amount of semaphorin-3E in a sample" []	69513	\N	\N	EFO	0	EFO	semaphorin-3E measurement	semaphorin-3E measurement
EFO:0007937	EFO:0008279	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008279	"quantification of the amount of semaphorin-3E in a sample" []	211655	\N	\N	EFO	1	EFO	blood protein measurement	semaphorin-3E measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008279	"quantification of the amount of semaphorin-3E in a sample" []	564925	\N	\N	EFO	2	EFO	protein measurement	semaphorin-3E measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008279	"quantification of the amount of semaphorin-3E in a sample" []	1146101	\N	\N	EFO	3	EFO	measurement	semaphorin-3E measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008279	"quantification of the amount of semaphorin-3E in a sample" []	2028524	\N	\N	EFO	4	EFO	information entity	semaphorin-3E measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008279	"quantification of the amount of semaphorin-3E in a sample" []	3179708	\N	\N	EFO	5	EFO	experimental factor	semaphorin-3E measurement
EFO:0008280	\N	\N	"quantification of the amount of serine protease 27 in a sample" []	EFO:0008280	"quantification of the amount of serine protease 27 in a sample" []	69514	\N	\N	EFO	0	EFO	serine protease 27 measurement	serine protease 27 measurement
EFO:0007937	EFO:0008280	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008280	"quantification of the amount of serine protease 27 in a sample" []	211656	\N	\N	EFO	1	EFO	blood protein measurement	serine protease 27 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008280	"quantification of the amount of serine protease 27 in a sample" []	564926	\N	\N	EFO	2	EFO	protein measurement	serine protease 27 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008280	"quantification of the amount of serine protease 27 in a sample" []	1146102	\N	\N	EFO	3	EFO	measurement	serine protease 27 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008280	"quantification of the amount of serine protease 27 in a sample" []	2028525	\N	\N	EFO	4	EFO	information entity	serine protease 27 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008280	"quantification of the amount of serine protease 27 in a sample" []	3179709	\N	\N	EFO	5	EFO	experimental factor	serine protease 27 measurement
EFO:0008281	\N	\N	"quantification of the amount of serine/threonine-protein kinase 17B in a sample" []	EFO:0008281	"quantification of the amount of serine/threonine-protein kinase 17B in a sample" []	69515	\N	\N	EFO	0	EFO	serine/threonine-protein kinase 17B measurement	serine/threonine-protein kinase 17B measurement
EFO:0007937	EFO:0008281	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008281	"quantification of the amount of serine/threonine-protein kinase 17B in a sample" []	211657	\N	\N	EFO	1	EFO	blood protein measurement	serine/threonine-protein kinase 17B measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008281	"quantification of the amount of serine/threonine-protein kinase 17B in a sample" []	564927	\N	\N	EFO	2	EFO	protein measurement	serine/threonine-protein kinase 17B measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008281	"quantification of the amount of serine/threonine-protein kinase 17B in a sample" []	1146103	\N	\N	EFO	3	EFO	measurement	serine/threonine-protein kinase 17B measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008281	"quantification of the amount of serine/threonine-protein kinase 17B in a sample" []	2028526	\N	\N	EFO	4	EFO	information entity	serine/threonine-protein kinase 17B measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008281	"quantification of the amount of serine/threonine-protein kinase 17B in a sample" []	3179710	\N	\N	EFO	5	EFO	experimental factor	serine/threonine-protein kinase 17B measurement
EFO:0008282	\N	\N	"quantification of the amount of serum amyloid A-1 protein in a sample" []	EFO:0008282	"quantification of the amount of serum amyloid A-1 protein in a sample" []	69516	\N	\N	EFO	0	EFO	serum amyloid A-1 protein measurement	serum amyloid A-1 protein measurement
EFO:0007937	EFO:0008282	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008282	"quantification of the amount of serum amyloid A-1 protein in a sample" []	211658	\N	\N	EFO	1	EFO	blood protein measurement	serum amyloid A-1 protein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008282	"quantification of the amount of serum amyloid A-1 protein in a sample" []	564928	\N	\N	EFO	2	EFO	protein measurement	serum amyloid A-1 protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008282	"quantification of the amount of serum amyloid A-1 protein in a sample" []	1146104	\N	\N	EFO	3	EFO	measurement	serum amyloid A-1 protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008282	"quantification of the amount of serum amyloid A-1 protein in a sample" []	2028527	\N	\N	EFO	4	EFO	information entity	serum amyloid A-1 protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008282	"quantification of the amount of serum amyloid A-1 protein in a sample" []	3179711	\N	\N	EFO	5	EFO	experimental factor	serum amyloid A-1 protein measurement
EFO:0008283	\N	\N	"quantification of the amount of serum amyloid P-component in a sample" []	EFO:0008283	"quantification of the amount of serum amyloid P-component in a sample" []	69517	\N	\N	EFO	0	EFO	serum amyloid P-component measurement	serum amyloid P-component measurement
EFO:0007937	EFO:0008283	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008283	"quantification of the amount of serum amyloid P-component in a sample" []	211659	\N	\N	EFO	1	EFO	blood protein measurement	serum amyloid P-component measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008283	"quantification of the amount of serum amyloid P-component in a sample" []	564929	\N	\N	EFO	2	EFO	protein measurement	serum amyloid P-component measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008283	"quantification of the amount of serum amyloid P-component in a sample" []	1146105	\N	\N	EFO	3	EFO	measurement	serum amyloid P-component measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008283	"quantification of the amount of serum amyloid P-component in a sample" []	2028528	\N	\N	EFO	4	EFO	information entity	serum amyloid P-component measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008283	"quantification of the amount of serum amyloid P-component in a sample" []	3179712	\N	\N	EFO	5	EFO	experimental factor	serum amyloid P-component measurement
EFO:0008284	\N	\N	"quantification of the amount of sialic acid-binding Ig-like lectin 14 in a sample" []	EFO:0008284	"quantification of the amount of sialic acid-binding Ig-like lectin 14 in a sample" []	69518	\N	\N	EFO	0	EFO	sialic acid-binding Ig-like lectin 14 measurement	sialic acid-binding Ig-like lectin 14 measurement
EFO:0007937	EFO:0008284	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008284	"quantification of the amount of sialic acid-binding Ig-like lectin 14 in a sample" []	211660	\N	\N	EFO	1	EFO	blood protein measurement	sialic acid-binding Ig-like lectin 14 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008284	"quantification of the amount of sialic acid-binding Ig-like lectin 14 in a sample" []	564930	\N	\N	EFO	2	EFO	protein measurement	sialic acid-binding Ig-like lectin 14 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008284	"quantification of the amount of sialic acid-binding Ig-like lectin 14 in a sample" []	1146106	\N	\N	EFO	3	EFO	measurement	sialic acid-binding Ig-like lectin 14 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008284	"quantification of the amount of sialic acid-binding Ig-like lectin 14 in a sample" []	2028529	\N	\N	EFO	4	EFO	information entity	sialic acid-binding Ig-like lectin 14 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008284	"quantification of the amount of sialic acid-binding Ig-like lectin 14 in a sample" []	3179713	\N	\N	EFO	5	EFO	experimental factor	sialic acid-binding Ig-like lectin 14 measurement
EFO:0008285	\N	\N	"quantification of the amount of sialic acid-binding Ig-like lectin 6 in a sample" []	EFO:0008285	"quantification of the amount of sialic acid-binding Ig-like lectin 6 in a sample" []	69519	\N	\N	EFO	0	EFO	sialic acid-binding Ig-like lectin 6 measurement	sialic acid-binding Ig-like lectin 6 measurement
EFO:0007937	EFO:0008285	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008285	"quantification of the amount of sialic acid-binding Ig-like lectin 6 in a sample" []	211661	\N	\N	EFO	1	EFO	blood protein measurement	sialic acid-binding Ig-like lectin 6 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008285	"quantification of the amount of sialic acid-binding Ig-like lectin 6 in a sample" []	564931	\N	\N	EFO	2	EFO	protein measurement	sialic acid-binding Ig-like lectin 6 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008285	"quantification of the amount of sialic acid-binding Ig-like lectin 6 in a sample" []	1146107	\N	\N	EFO	3	EFO	measurement	sialic acid-binding Ig-like lectin 6 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008285	"quantification of the amount of sialic acid-binding Ig-like lectin 6 in a sample" []	2028530	\N	\N	EFO	4	EFO	information entity	sialic acid-binding Ig-like lectin 6 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008285	"quantification of the amount of sialic acid-binding Ig-like lectin 6 in a sample" []	3179714	\N	\N	EFO	5	EFO	experimental factor	sialic acid-binding Ig-like lectin 6 measurement
EFO:0008286	\N	\N	"quantification of the amount of sialic acid-binding Ig-like lectin 9 in a sample" []	EFO:0008286	"quantification of the amount of sialic acid-binding Ig-like lectin 9 in a sample" []	69520	\N	\N	EFO	0	EFO	sialic acid-binding Ig-like lectin 9 measurement	sialic acid-binding Ig-like lectin 9 measurement
EFO:0007937	EFO:0008286	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008286	"quantification of the amount of sialic acid-binding Ig-like lectin 9 in a sample" []	211662	\N	\N	EFO	1	EFO	blood protein measurement	sialic acid-binding Ig-like lectin 9 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008286	"quantification of the amount of sialic acid-binding Ig-like lectin 9 in a sample" []	564932	\N	\N	EFO	2	EFO	protein measurement	sialic acid-binding Ig-like lectin 9 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008286	"quantification of the amount of sialic acid-binding Ig-like lectin 9 in a sample" []	1146108	\N	\N	EFO	3	EFO	measurement	sialic acid-binding Ig-like lectin 9 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008286	"quantification of the amount of sialic acid-binding Ig-like lectin 9 in a sample" []	2028531	\N	\N	EFO	4	EFO	information entity	sialic acid-binding Ig-like lectin 9 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008286	"quantification of the amount of sialic acid-binding Ig-like lectin 9 in a sample" []	3179715	\N	\N	EFO	5	EFO	experimental factor	sialic acid-binding Ig-like lectin 9 measurement
EFO:0008287	\N	\N	"quantification of the amount of SLAM family member 7 in a sample" []	EFO:0008287	"quantification of the amount of SLAM family member 7 in a sample" []	69521	\N	\N	EFO	0	EFO	SLAM family member 7 measurement	SLAM family member 7 measurement
EFO:0007937	EFO:0008287	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008287	"quantification of the amount of SLAM family member 7 in a sample" []	211663	\N	\N	EFO	1	EFO	blood protein measurement	SLAM family member 7 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008287	"quantification of the amount of SLAM family member 7 in a sample" []	564933	\N	\N	EFO	2	EFO	protein measurement	SLAM family member 7 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008287	"quantification of the amount of SLAM family member 7 in a sample" []	1146109	\N	\N	EFO	3	EFO	measurement	SLAM family member 7 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008287	"quantification of the amount of SLAM family member 7 in a sample" []	2028532	\N	\N	EFO	4	EFO	information entity	SLAM family member 7 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008287	"quantification of the amount of SLAM family member 7 in a sample" []	3179716	\N	\N	EFO	5	EFO	experimental factor	SLAM family member 7 measurement
EFO:0008288	\N	\N	"quantification of the amount of small nuclear ribonucleoprotein F in a sample" []	EFO:0008288	"quantification of the amount of small nuclear ribonucleoprotein F in a sample" []	69522	\N	\N	EFO	0	EFO	small nuclear ribonucleoprotein F measurement	small nuclear ribonucleoprotein F measurement
EFO:0007937	EFO:0008288	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008288	"quantification of the amount of small nuclear ribonucleoprotein F in a sample" []	211664	\N	\N	EFO	1	EFO	blood protein measurement	small nuclear ribonucleoprotein F measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008288	"quantification of the amount of small nuclear ribonucleoprotein F in a sample" []	564934	\N	\N	EFO	2	EFO	protein measurement	small nuclear ribonucleoprotein F measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008288	"quantification of the amount of small nuclear ribonucleoprotein F in a sample" []	1146110	\N	\N	EFO	3	EFO	measurement	small nuclear ribonucleoprotein F measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008288	"quantification of the amount of small nuclear ribonucleoprotein F in a sample" []	2028533	\N	\N	EFO	4	EFO	information entity	small nuclear ribonucleoprotein F measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008288	"quantification of the amount of small nuclear ribonucleoprotein F in a sample" []	3179717	\N	\N	EFO	5	EFO	experimental factor	small nuclear ribonucleoprotein F measurement
EFO:0008289	\N	\N	"quantification of the amount of SPARC-like protein 1 in a sample" []	EFO:0008289	"quantification of the amount of SPARC-like protein 1 in a sample" []	69523	\N	\N	EFO	0	EFO	SPARC-like protein 1 measurement	SPARC-like protein 1 measurement
EFO:0007937	EFO:0008289	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008289	"quantification of the amount of SPARC-like protein 1 in a sample" []	211665	\N	\N	EFO	1	EFO	blood protein measurement	SPARC-like protein 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008289	"quantification of the amount of SPARC-like protein 1 in a sample" []	564935	\N	\N	EFO	2	EFO	protein measurement	SPARC-like protein 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008289	"quantification of the amount of SPARC-like protein 1 in a sample" []	1146111	\N	\N	EFO	3	EFO	measurement	SPARC-like protein 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008289	"quantification of the amount of SPARC-like protein 1 in a sample" []	2028534	\N	\N	EFO	4	EFO	information entity	SPARC-like protein 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008289	"quantification of the amount of SPARC-like protein 1 in a sample" []	3179718	\N	\N	EFO	5	EFO	experimental factor	SPARC-like protein 1 measurement
EFO:0008290	\N	\N	"quantification of the amount of spondin-1 in a sample" []	EFO:0008290	"quantification of the amount of spondin-1 in a sample" []	69524	\N	\N	EFO	0	EFO	spondin-1 measurement	spondin-1 measurement
EFO:0007937	EFO:0008290	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008290	"quantification of the amount of spondin-1 in a sample" []	211666	\N	\N	EFO	1	EFO	blood protein measurement	spondin-1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008290	"quantification of the amount of spondin-1 in a sample" []	564936	\N	\N	EFO	2	EFO	protein measurement	spondin-1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008290	"quantification of the amount of spondin-1 in a sample" []	1146112	\N	\N	EFO	3	EFO	measurement	spondin-1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008290	"quantification of the amount of spondin-1 in a sample" []	2028535	\N	\N	EFO	4	EFO	information entity	spondin-1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008290	"quantification of the amount of spondin-1 in a sample" []	3179719	\N	\N	EFO	5	EFO	experimental factor	spondin-1 measurement
EFO:0008291	\N	\N	"quantification of the amount of stem Cell Factor in a sample" []	EFO:0008291	"quantification of the amount of stem Cell Factor in a sample" []	69525	\N	\N	EFO	0	EFO	stem Cell Factor measurement	stem Cell Factor measurement
EFO:0007937	EFO:0008291	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008291	"quantification of the amount of stem Cell Factor in a sample" []	211667	\N	\N	EFO	1	EFO	blood protein measurement	stem Cell Factor measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008291	"quantification of the amount of stem Cell Factor in a sample" []	564937	\N	\N	EFO	2	EFO	protein measurement	stem Cell Factor measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008291	"quantification of the amount of stem Cell Factor in a sample" []	1146113	\N	\N	EFO	3	EFO	measurement	stem Cell Factor measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008291	"quantification of the amount of stem Cell Factor in a sample" []	2028536	\N	\N	EFO	4	EFO	information entity	stem Cell Factor measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008291	"quantification of the amount of stem Cell Factor in a sample" []	3179720	\N	\N	EFO	5	EFO	experimental factor	stem Cell Factor measurement
EFO:0008292	\N	\N	"quantification of the amount of stem Cell Growth Factor beta in a sample" []	EFO:0008292	"quantification of the amount of stem Cell Growth Factor beta in a sample" []	69526	\N	\N	EFO	0	EFO	stem Cell Growth Factor beta measurement	stem Cell Growth Factor beta measurement
EFO:0007937	EFO:0008292	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008292	"quantification of the amount of stem Cell Growth Factor beta in a sample" []	211668	\N	\N	EFO	1	EFO	blood protein measurement	stem Cell Growth Factor beta measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008292	"quantification of the amount of stem Cell Growth Factor beta in a sample" []	564938	\N	\N	EFO	2	EFO	protein measurement	stem Cell Growth Factor beta measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008292	"quantification of the amount of stem Cell Growth Factor beta in a sample" []	1146114	\N	\N	EFO	3	EFO	measurement	stem Cell Growth Factor beta measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008292	"quantification of the amount of stem Cell Growth Factor beta in a sample" []	2028537	\N	\N	EFO	4	EFO	information entity	stem Cell Growth Factor beta measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008292	"quantification of the amount of stem Cell Growth Factor beta in a sample" []	3179721	\N	\N	EFO	5	EFO	experimental factor	stem Cell Growth Factor beta measurement
EFO:0008293	\N	\N	"quantification of the amount of stromal cell-derived factor 1 alpha in a sample" []	EFO:0008293	"quantification of the amount of stromal cell-derived factor 1 alpha in a sample" []	69527	\N	\N	EFO	0	EFO	stromal cell-derived factor 1 alpha measurement	stromal cell-derived factor 1 alpha measurement
EFO:0007937	EFO:0008293	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008293	"quantification of the amount of stromal cell-derived factor 1 alpha in a sample" []	211669	\N	\N	EFO	1	EFO	blood protein measurement	stromal cell-derived factor 1 alpha measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008293	"quantification of the amount of stromal cell-derived factor 1 alpha in a sample" []	564939	\N	\N	EFO	2	EFO	protein measurement	stromal cell-derived factor 1 alpha measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008293	"quantification of the amount of stromal cell-derived factor 1 alpha in a sample" []	1146115	\N	\N	EFO	3	EFO	measurement	stromal cell-derived factor 1 alpha measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008293	"quantification of the amount of stromal cell-derived factor 1 alpha in a sample" []	2028538	\N	\N	EFO	4	EFO	information entity	stromal cell-derived factor 1 alpha measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008293	"quantification of the amount of stromal cell-derived factor 1 alpha in a sample" []	3179722	\N	\N	EFO	5	EFO	experimental factor	stromal cell-derived factor 1 alpha measurement
EFO:0008294	\N	\N	"quantification of the amount of superoxide dismutase [Mn], mitochondrial in a sample" []	EFO:0008294	"quantification of the amount of superoxide dismutase [Mn], mitochondrial in a sample" []	69528	\N	\N	EFO	0	EFO	superoxide dismutase [Mn], mitochondrial measurement	superoxide dismutase [Mn], mitochondrial measurement
EFO:0007937	EFO:0008294	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008294	"quantification of the amount of superoxide dismutase [Mn], mitochondrial in a sample" []	211670	\N	\N	EFO	1	EFO	blood protein measurement	superoxide dismutase [Mn], mitochondrial measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008294	"quantification of the amount of superoxide dismutase [Mn], mitochondrial in a sample" []	564940	\N	\N	EFO	2	EFO	protein measurement	superoxide dismutase [Mn], mitochondrial measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008294	"quantification of the amount of superoxide dismutase [Mn], mitochondrial in a sample" []	1146116	\N	\N	EFO	3	EFO	measurement	superoxide dismutase [Mn], mitochondrial measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008294	"quantification of the amount of superoxide dismutase [Mn], mitochondrial in a sample" []	2028539	\N	\N	EFO	4	EFO	information entity	superoxide dismutase [Mn], mitochondrial measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008294	"quantification of the amount of superoxide dismutase [Mn], mitochondrial in a sample" []	3179723	\N	\N	EFO	5	EFO	experimental factor	superoxide dismutase [Mn], mitochondrial measurement
EFO:0008295	\N	\N	"quantification of the amount of T-lymphocyte surface antigen Ly-9 in a sample" []	EFO:0008295	"quantification of the amount of T-lymphocyte surface antigen Ly-9 in a sample" []	69529	\N	\N	EFO	0	EFO	T-lymphocyte surface antigen Ly-9 measurement	T-lymphocyte surface antigen Ly-9 measurement
EFO:0007937	EFO:0008295	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008295	"quantification of the amount of T-lymphocyte surface antigen Ly-9 in a sample" []	211671	\N	\N	EFO	1	EFO	blood protein measurement	T-lymphocyte surface antigen Ly-9 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008295	"quantification of the amount of T-lymphocyte surface antigen Ly-9 in a sample" []	564941	\N	\N	EFO	2	EFO	protein measurement	T-lymphocyte surface antigen Ly-9 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008295	"quantification of the amount of T-lymphocyte surface antigen Ly-9 in a sample" []	1146117	\N	\N	EFO	3	EFO	measurement	T-lymphocyte surface antigen Ly-9 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008295	"quantification of the amount of T-lymphocyte surface antigen Ly-9 in a sample" []	2028540	\N	\N	EFO	4	EFO	information entity	T-lymphocyte surface antigen Ly-9 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008295	"quantification of the amount of T-lymphocyte surface antigen Ly-9 in a sample" []	3179724	\N	\N	EFO	5	EFO	experimental factor	T-lymphocyte surface antigen Ly-9 measurement
EFO:0008296	\N	\N	"quantification of the amount of tenascin in a sample" []	EFO:0008296	"quantification of the amount of tenascin in a sample" []	69530	\N	\N	EFO	0	EFO	tenascin measurement	tenascin measurement
EFO:0007937	EFO:0008296	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008296	"quantification of the amount of tenascin in a sample" []	211672	\N	\N	EFO	1	EFO	blood protein measurement	tenascin measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008296	"quantification of the amount of tenascin in a sample" []	564942	\N	\N	EFO	2	EFO	protein measurement	tenascin measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008296	"quantification of the amount of tenascin in a sample" []	1146118	\N	\N	EFO	3	EFO	measurement	tenascin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008296	"quantification of the amount of tenascin in a sample" []	2028541	\N	\N	EFO	4	EFO	information entity	tenascin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008296	"quantification of the amount of tenascin in a sample" []	3179725	\N	\N	EFO	5	EFO	experimental factor	tenascin measurement
EFO:0008297	\N	\N	"quantification of the amount of teratocarcinoma-derived growth factor 1 in a sample" []	EFO:0008297	"quantification of the amount of teratocarcinoma-derived growth factor 1 in a sample" []	69531	\N	\N	EFO	0	EFO	teratocarcinoma-derived growth factor 1 measurement	teratocarcinoma-derived growth factor 1 measurement
EFO:0007937	EFO:0008297	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008297	"quantification of the amount of teratocarcinoma-derived growth factor 1 in a sample" []	211673	\N	\N	EFO	1	EFO	blood protein measurement	teratocarcinoma-derived growth factor 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008297	"quantification of the amount of teratocarcinoma-derived growth factor 1 in a sample" []	564943	\N	\N	EFO	2	EFO	protein measurement	teratocarcinoma-derived growth factor 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008297	"quantification of the amount of teratocarcinoma-derived growth factor 1 in a sample" []	1146119	\N	\N	EFO	3	EFO	measurement	teratocarcinoma-derived growth factor 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008297	"quantification of the amount of teratocarcinoma-derived growth factor 1 in a sample" []	2028542	\N	\N	EFO	4	EFO	information entity	teratocarcinoma-derived growth factor 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008297	"quantification of the amount of teratocarcinoma-derived growth factor 1 in a sample" []	3179726	\N	\N	EFO	5	EFO	experimental factor	teratocarcinoma-derived growth factor 1 measurement
EFO:0008298	\N	\N	"quantification of the amount of thioredoxin domain-containing protein 12 in a sample" []	EFO:0008298	"quantification of the amount of thioredoxin domain-containing protein 12 in a sample" []	69532	\N	\N	EFO	0	EFO	thioredoxin domain-containing protein 12 measurement	thioredoxin domain-containing protein 12 measurement
EFO:0007937	EFO:0008298	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008298	"quantification of the amount of thioredoxin domain-containing protein 12 in a sample" []	211674	\N	\N	EFO	1	EFO	blood protein measurement	thioredoxin domain-containing protein 12 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008298	"quantification of the amount of thioredoxin domain-containing protein 12 in a sample" []	564944	\N	\N	EFO	2	EFO	protein measurement	thioredoxin domain-containing protein 12 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008298	"quantification of the amount of thioredoxin domain-containing protein 12 in a sample" []	1146120	\N	\N	EFO	3	EFO	measurement	thioredoxin domain-containing protein 12 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008298	"quantification of the amount of thioredoxin domain-containing protein 12 in a sample" []	2028543	\N	\N	EFO	4	EFO	information entity	thioredoxin domain-containing protein 12 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008298	"quantification of the amount of thioredoxin domain-containing protein 12 in a sample" []	3179727	\N	\N	EFO	5	EFO	experimental factor	thioredoxin domain-containing protein 12 measurement
EFO:0008299	\N	\N	"quantification of the amount of thrombospondin-2 in a sample" []	EFO:0008299	"quantification of the amount of thrombospondin-2 in a sample" []	69533	\N	\N	EFO	0	EFO	thrombospondin-2 measurement	thrombospondin-2 measurement
EFO:0007937	EFO:0008299	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008299	"quantification of the amount of thrombospondin-2 in a sample" []	211675	\N	\N	EFO	1	EFO	blood protein measurement	thrombospondin-2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008299	"quantification of the amount of thrombospondin-2 in a sample" []	564945	\N	\N	EFO	2	EFO	protein measurement	thrombospondin-2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008299	"quantification of the amount of thrombospondin-2 in a sample" []	1146121	\N	\N	EFO	3	EFO	measurement	thrombospondin-2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008299	"quantification of the amount of thrombospondin-2 in a sample" []	2028544	\N	\N	EFO	4	EFO	information entity	thrombospondin-2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008299	"quantification of the amount of thrombospondin-2 in a sample" []	3179728	\N	\N	EFO	5	EFO	experimental factor	thrombospondin-2 measurement
EFO:0008300	\N	\N	"quantification of the amount of TNF-related apoptosis-inducing ligand in a sample" []	EFO:0008300	"quantification of the amount of TNF-related apoptosis-inducing ligand in a sample" []	69534	\N	\N	EFO	0	EFO	TNF-related apoptosis-inducing ligand measurement	TNF-related apoptosis-inducing ligand measurement
EFO:0007937	EFO:0008300	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008300	"quantification of the amount of TNF-related apoptosis-inducing ligand in a sample" []	211676	\N	\N	EFO	1	EFO	blood protein measurement	TNF-related apoptosis-inducing ligand measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008300	"quantification of the amount of TNF-related apoptosis-inducing ligand in a sample" []	564946	\N	\N	EFO	2	EFO	protein measurement	TNF-related apoptosis-inducing ligand measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008300	"quantification of the amount of TNF-related apoptosis-inducing ligand in a sample" []	1146122	\N	\N	EFO	3	EFO	measurement	TNF-related apoptosis-inducing ligand measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008300	"quantification of the amount of TNF-related apoptosis-inducing ligand in a sample" []	2028545	\N	\N	EFO	4	EFO	information entity	TNF-related apoptosis-inducing ligand measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008300	"quantification of the amount of TNF-related apoptosis-inducing ligand in a sample" []	3179729	\N	\N	EFO	5	EFO	experimental factor	TNF-related apoptosis-inducing ligand measurement
EFO:0008301	\N	\N	"quantification of the amount of toll-like receptor 4:Lymphocyte antigen 96 complex in a sample" []	EFO:0008301	"quantification of the amount of toll-like receptor 4:Lymphocyte antigen 96 complex in a sample" []	69535	\N	\N	EFO	0	EFO	toll-like receptor 4:Lymphocyte antigen 96 complex measurement	toll-like receptor 4:Lymphocyte antigen 96 complex measurement
EFO:0007937	EFO:0008301	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008301	"quantification of the amount of toll-like receptor 4:Lymphocyte antigen 96 complex in a sample" []	211677	\N	\N	EFO	1	EFO	blood protein measurement	toll-like receptor 4:Lymphocyte antigen 96 complex measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008301	"quantification of the amount of toll-like receptor 4:Lymphocyte antigen 96 complex in a sample" []	564947	\N	\N	EFO	2	EFO	protein measurement	toll-like receptor 4:Lymphocyte antigen 96 complex measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008301	"quantification of the amount of toll-like receptor 4:Lymphocyte antigen 96 complex in a sample" []	1146123	\N	\N	EFO	3	EFO	measurement	toll-like receptor 4:Lymphocyte antigen 96 complex measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008301	"quantification of the amount of toll-like receptor 4:Lymphocyte antigen 96 complex in a sample" []	2028546	\N	\N	EFO	4	EFO	information entity	toll-like receptor 4:Lymphocyte antigen 96 complex measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008301	"quantification of the amount of toll-like receptor 4:Lymphocyte antigen 96 complex in a sample" []	3179730	\N	\N	EFO	5	EFO	experimental factor	toll-like receptor 4:Lymphocyte antigen 96 complex measurement
EFO:0008302	\N	\N	"quantification of the amount of transforming growth factor-beta-induced protein ig-h3 in a sample" []	EFO:0008302	"quantification of the amount of transforming growth factor-beta-induced protein ig-h3 in a sample" []	69536	\N	\N	EFO	0	EFO	transforming growth factor-beta-induced protein ig-h3 measurement	transforming growth factor-beta-induced protein ig-h3 measurement
EFO:0007937	EFO:0008302	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008302	"quantification of the amount of transforming growth factor-beta-induced protein ig-h3 in a sample" []	211678	\N	\N	EFO	1	EFO	blood protein measurement	transforming growth factor-beta-induced protein ig-h3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008302	"quantification of the amount of transforming growth factor-beta-induced protein ig-h3 in a sample" []	564948	\N	\N	EFO	2	EFO	protein measurement	transforming growth factor-beta-induced protein ig-h3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008302	"quantification of the amount of transforming growth factor-beta-induced protein ig-h3 in a sample" []	1146124	\N	\N	EFO	3	EFO	measurement	transforming growth factor-beta-induced protein ig-h3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008302	"quantification of the amount of transforming growth factor-beta-induced protein ig-h3 in a sample" []	2028547	\N	\N	EFO	4	EFO	information entity	transforming growth factor-beta-induced protein ig-h3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008302	"quantification of the amount of transforming growth factor-beta-induced protein ig-h3 in a sample" []	3179731	\N	\N	EFO	5	EFO	experimental factor	transforming growth factor-beta-induced protein ig-h3 measurement
EFO:0008303	\N	\N	"quantification of the amount of transmembrane glycoprotein NMB in a sample" []	EFO:0008303	"quantification of the amount of transmembrane glycoprotein NMB in a sample" []	69537	\N	\N	EFO	0	EFO	transmembrane glycoprotein NMB measurement	transmembrane glycoprotein NMB measurement
EFO:0007937	EFO:0008303	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008303	"quantification of the amount of transmembrane glycoprotein NMB in a sample" []	211679	\N	\N	EFO	1	EFO	blood protein measurement	transmembrane glycoprotein NMB measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008303	"quantification of the amount of transmembrane glycoprotein NMB in a sample" []	564949	\N	\N	EFO	2	EFO	protein measurement	transmembrane glycoprotein NMB measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008303	"quantification of the amount of transmembrane glycoprotein NMB in a sample" []	1146125	\N	\N	EFO	3	EFO	measurement	transmembrane glycoprotein NMB measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008303	"quantification of the amount of transmembrane glycoprotein NMB in a sample" []	2028548	\N	\N	EFO	4	EFO	information entity	transmembrane glycoprotein NMB measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008303	"quantification of the amount of transmembrane glycoprotein NMB in a sample" []	3179732	\N	\N	EFO	5	EFO	experimental factor	transmembrane glycoprotein NMB measurement
EFO:0008304	\N	\N	"quantification of the amount of trefoil factor 3 in a sample" []	EFO:0008304	"quantification of the amount of trefoil factor 3 in a sample" []	69538	\N	\N	EFO	0	EFO	trefoil factor 3 measurement	trefoil factor 3 measurement
EFO:0007937	EFO:0008304	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008304	"quantification of the amount of trefoil factor 3 in a sample" []	211680	\N	\N	EFO	1	EFO	blood protein measurement	trefoil factor 3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008304	"quantification of the amount of trefoil factor 3 in a sample" []	564950	\N	\N	EFO	2	EFO	protein measurement	trefoil factor 3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008304	"quantification of the amount of trefoil factor 3 in a sample" []	1146126	\N	\N	EFO	3	EFO	measurement	trefoil factor 3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008304	"quantification of the amount of trefoil factor 3 in a sample" []	2028549	\N	\N	EFO	4	EFO	information entity	trefoil factor 3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008304	"quantification of the amount of trefoil factor 3 in a sample" []	3179733	\N	\N	EFO	5	EFO	experimental factor	trefoil factor 3 measurement
EFO:0008305	\N	\N	"quantification of the amount of trypsin-2 in a sample" []	EFO:0008305	"quantification of the amount of trypsin-2 in a sample" []	69539	\N	\N	EFO	0	EFO	trypsin-2 measurement	trypsin-2 measurement
EFO:0007937	EFO:0008305	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008305	"quantification of the amount of trypsin-2 in a sample" []	211681	\N	\N	EFO	1	EFO	blood protein measurement	trypsin-2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008305	"quantification of the amount of trypsin-2 in a sample" []	564951	\N	\N	EFO	2	EFO	protein measurement	trypsin-2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008305	"quantification of the amount of trypsin-2 in a sample" []	1146127	\N	\N	EFO	3	EFO	measurement	trypsin-2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008305	"quantification of the amount of trypsin-2 in a sample" []	2028550	\N	\N	EFO	4	EFO	information entity	trypsin-2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008305	"quantification of the amount of trypsin-2 in a sample" []	3179734	\N	\N	EFO	5	EFO	experimental factor	trypsin-2 measurement
EFO:0008306	\N	\N	"quantification of the amount of tryptase beta-2 in a sample" []	EFO:0008306	"quantification of the amount of tryptase beta-2 in a sample" []	69540	\N	\N	EFO	0	EFO	tryptase beta-2 measurement	tryptase beta-2 measurement
EFO:0007937	EFO:0008306	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008306	"quantification of the amount of tryptase beta-2 in a sample" []	211682	\N	\N	EFO	1	EFO	blood protein measurement	tryptase beta-2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008306	"quantification of the amount of tryptase beta-2 in a sample" []	564952	\N	\N	EFO	2	EFO	protein measurement	tryptase beta-2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008306	"quantification of the amount of tryptase beta-2 in a sample" []	1146128	\N	\N	EFO	3	EFO	measurement	tryptase beta-2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008306	"quantification of the amount of tryptase beta-2 in a sample" []	2028551	\N	\N	EFO	4	EFO	information entity	tryptase beta-2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008306	"quantification of the amount of tryptase beta-2 in a sample" []	3179735	\N	\N	EFO	5	EFO	experimental factor	tryptase beta-2 measurement
EFO:0008307	\N	\N	"quantification of the severity of the skin reaction in response to the injection of TB antigen" []	EFO:0008307	"quantification of the severity of the skin reaction in response to the injection of TB antigen" []	69541	\N	\N	EFO	0	EFO	tuberculin skin test reactivity measurement	tuberculin skin test reactivity measurement
EFO:0001444	EFO:0008307	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008307	"quantification of the severity of the skin reaction in response to the injection of TB antigen" []	211683	\N	\N	EFO	1	EFO	measurement	tuberculin skin test reactivity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008307	"quantification of the severity of the skin reaction in response to the injection of TB antigen" []	564953	\N	\N	EFO	2	EFO	information entity	tuberculin skin test reactivity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008307	"quantification of the severity of the skin reaction in response to the injection of TB antigen" []	1146129	\N	\N	EFO	3	EFO	experimental factor	tuberculin skin test reactivity measurement
EFO:0008308	\N	\N	"quantification of the amount of tumor necrosis factor beta in a sample" []	EFO:0008308	"quantification of the amount of tumor necrosis factor beta in a sample" []	69542	\N	\N	EFO	0	EFO	tumor necrosis factor beta measurement	tumor necrosis factor beta measurement
EFO:0007937	EFO:0008308	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008308	"quantification of the amount of tumor necrosis factor beta in a sample" []	211684	\N	\N	EFO	1	EFO	blood protein measurement	tumor necrosis factor beta measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008308	"quantification of the amount of tumor necrosis factor beta in a sample" []	564954	\N	\N	EFO	2	EFO	protein measurement	tumor necrosis factor beta measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008308	"quantification of the amount of tumor necrosis factor beta in a sample" []	1146130	\N	\N	EFO	3	EFO	measurement	tumor necrosis factor beta measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008308	"quantification of the amount of tumor necrosis factor beta in a sample" []	2028552	\N	\N	EFO	4	EFO	information entity	tumor necrosis factor beta measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008308	"quantification of the amount of tumor necrosis factor beta in a sample" []	3179736	\N	\N	EFO	5	EFO	experimental factor	tumor necrosis factor beta measurement
EFO:0008309	\N	\N	"quantification of the amount of tumor necrosis factor receptor superfamily member 19L in a sample" []	EFO:0008309	"quantification of the amount of tumor necrosis factor receptor superfamily member 19L in a sample" []	69543	\N	\N	EFO	0	EFO	tumor necrosis factor receptor superfamily member 19L measurement	tumor necrosis factor receptor superfamily member 19L measurement
EFO:0007937	EFO:0008309	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008309	"quantification of the amount of tumor necrosis factor receptor superfamily member 19L in a sample" []	211685	\N	\N	EFO	1	EFO	blood protein measurement	tumor necrosis factor receptor superfamily member 19L measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008309	"quantification of the amount of tumor necrosis factor receptor superfamily member 19L in a sample" []	564955	\N	\N	EFO	2	EFO	protein measurement	tumor necrosis factor receptor superfamily member 19L measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008309	"quantification of the amount of tumor necrosis factor receptor superfamily member 19L in a sample" []	1146131	\N	\N	EFO	3	EFO	measurement	tumor necrosis factor receptor superfamily member 19L measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008309	"quantification of the amount of tumor necrosis factor receptor superfamily member 19L in a sample" []	2028553	\N	\N	EFO	4	EFO	information entity	tumor necrosis factor receptor superfamily member 19L measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008309	"quantification of the amount of tumor necrosis factor receptor superfamily member 19L in a sample" []	3179737	\N	\N	EFO	5	EFO	experimental factor	tumor necrosis factor receptor superfamily member 19L measurement
EFO:0008310	\N	\N	"quantification of the amount of tumor necrosis factor receptor superfamily member EDAR in a sample" []	EFO:0008310	"quantification of the amount of tumor necrosis factor receptor superfamily member EDAR in a sample" []	69544	\N	\N	EFO	0	EFO	tumor necrosis factor receptor superfamily member EDAR measurement	tumor necrosis factor receptor superfamily member EDAR measurement
EFO:0007937	EFO:0008310	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008310	"quantification of the amount of tumor necrosis factor receptor superfamily member EDAR in a sample" []	211686	\N	\N	EFO	1	EFO	blood protein measurement	tumor necrosis factor receptor superfamily member EDAR measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008310	"quantification of the amount of tumor necrosis factor receptor superfamily member EDAR in a sample" []	564956	\N	\N	EFO	2	EFO	protein measurement	tumor necrosis factor receptor superfamily member EDAR measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008310	"quantification of the amount of tumor necrosis factor receptor superfamily member EDAR in a sample" []	1146132	\N	\N	EFO	3	EFO	measurement	tumor necrosis factor receptor superfamily member EDAR measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008310	"quantification of the amount of tumor necrosis factor receptor superfamily member EDAR in a sample" []	2028554	\N	\N	EFO	4	EFO	information entity	tumor necrosis factor receptor superfamily member EDAR measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008310	"quantification of the amount of tumor necrosis factor receptor superfamily member EDAR in a sample" []	3179738	\N	\N	EFO	5	EFO	experimental factor	tumor necrosis factor receptor superfamily member EDAR measurement
EFO:0008311	\N	\N	"quantification of the amount of tumor necrosis factor-inducible gene 6 protein in a sample" []	EFO:0008311	"quantification of the amount of tumor necrosis factor-inducible gene 6 protein in a sample" []	69545	\N	\N	EFO	0	EFO	tumor necrosis factor-inducible gene 6 protein measurement	tumor necrosis factor-inducible gene 6 protein measurement
EFO:0007937	EFO:0008311	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008311	"quantification of the amount of tumor necrosis factor-inducible gene 6 protein in a sample" []	211687	\N	\N	EFO	1	EFO	blood protein measurement	tumor necrosis factor-inducible gene 6 protein measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008311	"quantification of the amount of tumor necrosis factor-inducible gene 6 protein in a sample" []	564957	\N	\N	EFO	2	EFO	protein measurement	tumor necrosis factor-inducible gene 6 protein measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008311	"quantification of the amount of tumor necrosis factor-inducible gene 6 protein in a sample" []	1146133	\N	\N	EFO	3	EFO	measurement	tumor necrosis factor-inducible gene 6 protein measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008311	"quantification of the amount of tumor necrosis factor-inducible gene 6 protein in a sample" []	2028555	\N	\N	EFO	4	EFO	information entity	tumor necrosis factor-inducible gene 6 protein measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008311	"quantification of the amount of tumor necrosis factor-inducible gene 6 protein in a sample" []	3179739	\N	\N	EFO	5	EFO	experimental factor	tumor necrosis factor-inducible gene 6 protein measurement
EFO:0008312	\N	\N	"quantification of the amount of tyrosine-protein kinase receptor Tie-1, soluble in a sample" []	EFO:0008312	"quantification of the amount of tyrosine-protein kinase receptor Tie-1, soluble in a sample" []	69546	\N	\N	EFO	0	EFO	tyrosine-protein kinase receptor Tie-1, soluble measurement	tyrosine-protein kinase receptor Tie-1, soluble measurement
EFO:0007937	EFO:0008312	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008312	"quantification of the amount of tyrosine-protein kinase receptor Tie-1, soluble in a sample" []	211688	\N	\N	EFO	1	EFO	blood protein measurement	tyrosine-protein kinase receptor Tie-1, soluble measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008312	"quantification of the amount of tyrosine-protein kinase receptor Tie-1, soluble in a sample" []	564958	\N	\N	EFO	2	EFO	protein measurement	tyrosine-protein kinase receptor Tie-1, soluble measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008312	"quantification of the amount of tyrosine-protein kinase receptor Tie-1, soluble in a sample" []	1146134	\N	\N	EFO	3	EFO	measurement	tyrosine-protein kinase receptor Tie-1, soluble measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008312	"quantification of the amount of tyrosine-protein kinase receptor Tie-1, soluble in a sample" []	2028556	\N	\N	EFO	4	EFO	information entity	tyrosine-protein kinase receptor Tie-1, soluble measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008312	"quantification of the amount of tyrosine-protein kinase receptor Tie-1, soluble in a sample" []	3179740	\N	\N	EFO	5	EFO	experimental factor	tyrosine-protein kinase receptor Tie-1, soluble measurement
EFO:0008313	\N	\N	"quantification of the amount of UMP-CMP kinase in a sample" []	EFO:0008313	"quantification of the amount of UMP-CMP kinase in a sample" []	69547	\N	\N	EFO	0	EFO	UMP-CMP kinase measurement	UMP-CMP kinase measurement
EFO:0007937	EFO:0008313	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008313	"quantification of the amount of UMP-CMP kinase in a sample" []	211689	\N	\N	EFO	1	EFO	blood protein measurement	UMP-CMP kinase measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008313	"quantification of the amount of UMP-CMP kinase in a sample" []	564959	\N	\N	EFO	2	EFO	protein measurement	UMP-CMP kinase measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008313	"quantification of the amount of UMP-CMP kinase in a sample" []	1146135	\N	\N	EFO	3	EFO	measurement	UMP-CMP kinase measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008313	"quantification of the amount of UMP-CMP kinase in a sample" []	2028557	\N	\N	EFO	4	EFO	information entity	UMP-CMP kinase measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008313	"quantification of the amount of UMP-CMP kinase in a sample" []	3179741	\N	\N	EFO	5	EFO	experimental factor	UMP-CMP kinase measurement
EFO:0008314	\N	\N	"quantification of the amount of vascular endothelial growth factor receptor 2 in a sample" []	EFO:0008314	"quantification of the amount of vascular endothelial growth factor receptor 2 in a sample" []	69548	\N	\N	EFO	0	EFO	vascular endothelial growth factor receptor 2 measurement	vascular endothelial growth factor receptor 2 measurement
EFO:0007937	EFO:0008314	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008314	"quantification of the amount of vascular endothelial growth factor receptor 2 in a sample" []	211690	\N	\N	EFO	1	EFO	blood protein measurement	vascular endothelial growth factor receptor 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008314	"quantification of the amount of vascular endothelial growth factor receptor 2 in a sample" []	564960	\N	\N	EFO	2	EFO	protein measurement	vascular endothelial growth factor receptor 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008314	"quantification of the amount of vascular endothelial growth factor receptor 2 in a sample" []	1146136	\N	\N	EFO	3	EFO	measurement	vascular endothelial growth factor receptor 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008314	"quantification of the amount of vascular endothelial growth factor receptor 2 in a sample" []	2028558	\N	\N	EFO	4	EFO	information entity	vascular endothelial growth factor receptor 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008314	"quantification of the amount of vascular endothelial growth factor receptor 2 in a sample" []	3179742	\N	\N	EFO	5	EFO	experimental factor	vascular endothelial growth factor receptor 2 measurement
EFO:0008315	\N	\N	"quantification of the amount of vascular endothelial growth factor receptor 3 in a sample" []	EFO:0008315	"quantification of the amount of vascular endothelial growth factor receptor 3 in a sample" []	69549	\N	\N	EFO	0	EFO	vascular endothelial growth factor receptor 3 measurement	vascular endothelial growth factor receptor 3 measurement
EFO:0007937	EFO:0008315	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008315	"quantification of the amount of vascular endothelial growth factor receptor 3 in a sample" []	211691	\N	\N	EFO	1	EFO	blood protein measurement	vascular endothelial growth factor receptor 3 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008315	"quantification of the amount of vascular endothelial growth factor receptor 3 in a sample" []	564961	\N	\N	EFO	2	EFO	protein measurement	vascular endothelial growth factor receptor 3 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008315	"quantification of the amount of vascular endothelial growth factor receptor 3 in a sample" []	1146137	\N	\N	EFO	3	EFO	measurement	vascular endothelial growth factor receptor 3 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008315	"quantification of the amount of vascular endothelial growth factor receptor 3 in a sample" []	2028559	\N	\N	EFO	4	EFO	information entity	vascular endothelial growth factor receptor 3 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008315	"quantification of the amount of vascular endothelial growth factor receptor 3 in a sample" []	3179743	\N	\N	EFO	5	EFO	experimental factor	vascular endothelial growth factor receptor 3 measurement
EFO:0008316	\N	\N	"quantification of some aspect of vaso-occlusive pain, or vas-occlusive crises, such as severity or frequency of occurences" []	EFO:0008316	"quantification of some aspect of vaso-occlusive pain, or vas-occlusive crises, such as severity or frequency of occurences" []	69550	\N	\N	EFO	0	EFO	vaso-occlusive pain measurement	vaso-occlusive pain measurement
EFO:0001444	EFO:0008316	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008316	"quantification of some aspect of vaso-occlusive pain, or vas-occlusive crises, such as severity or frequency of occurences" []	211692	\N	\N	EFO	1	EFO	measurement	vaso-occlusive pain measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008316	"quantification of some aspect of vaso-occlusive pain, or vas-occlusive crises, such as severity or frequency of occurences" []	564962	\N	\N	EFO	2	EFO	information entity	vaso-occlusive pain measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008316	"quantification of some aspect of vaso-occlusive pain, or vas-occlusive crises, such as severity or frequency of occurences" []	1146138	\N	\N	EFO	3	EFO	experimental factor	vaso-occlusive pain measurement
EFO:0008317	\N	\N	"quantification of the amount of very low density lipoprotein cholesterol in a sample" []	EFO:0008317	"quantification of the amount of very low density lipoprotein cholesterol in a sample" []	69551	\N	\N	EFO	0	EFO	very low density lipoprotein cholesterol measurement	very low density lipoprotein cholesterol measurement
EFO:0004529	EFO:0008317	\N	"A measure of circulating lipid" []	EFO:0008317	"quantification of the amount of very low density lipoprotein cholesterol in a sample" []	211693	\N	\N	EFO	1	EFO	lipid measurement	very low density lipoprotein cholesterol measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0008317	"quantification of the amount of very low density lipoprotein cholesterol in a sample" []	564963	\N	\N	EFO	2	EFO	lipid or lipoprotein measurement	very low density lipoprotein cholesterol measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008317	"quantification of the amount of very low density lipoprotein cholesterol in a sample" []	1146139	\N	\N	EFO	3	EFO	measurement	very low density lipoprotein cholesterol measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008317	"quantification of the amount of very low density lipoprotein cholesterol in a sample" []	2028560	\N	\N	EFO	4	EFO	information entity	very low density lipoprotein cholesterol measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008317	"quantification of the amount of very low density lipoprotein cholesterol in a sample" []	3179744	\N	\N	EFO	5	EFO	experimental factor	very low density lipoprotein cholesterol measurement
EFO:0008318	\N	\N	"quantification of the amount of vitamin K-dependent protein C in a sample" []	EFO:0008318	"quantification of the amount of vitamin K-dependent protein C in a sample" []	69552	\N	\N	EFO	0	EFO	vitamin K-dependent protein C measurement	vitamin K-dependent protein C measurement
EFO:0007937	EFO:0008318	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008318	"quantification of the amount of vitamin K-dependent protein C in a sample" []	211694	\N	\N	EFO	1	EFO	blood protein measurement	vitamin K-dependent protein C measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008318	"quantification of the amount of vitamin K-dependent protein C in a sample" []	564964	\N	\N	EFO	2	EFO	protein measurement	vitamin K-dependent protein C measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008318	"quantification of the amount of vitamin K-dependent protein C in a sample" []	1146140	\N	\N	EFO	3	EFO	measurement	vitamin K-dependent protein C measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008318	"quantification of the amount of vitamin K-dependent protein C in a sample" []	2028561	\N	\N	EFO	4	EFO	information entity	vitamin K-dependent protein C measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008318	"quantification of the amount of vitamin K-dependent protein C in a sample" []	3179745	\N	\N	EFO	5	EFO	experimental factor	vitamin K-dependent protein C measurement
EFO:0008319	\N	\N	"quantification of the amount of WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 in a sample" []	EFO:0008319	"quantification of the amount of WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 in a sample" []	69553	\N	\N	EFO	0	EFO	WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement	WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement
EFO:0007937	EFO:0008319	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008319	"quantification of the amount of WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 in a sample" []	211695	\N	\N	EFO	1	EFO	blood protein measurement	WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008319	"quantification of the amount of WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 in a sample" []	564965	\N	\N	EFO	2	EFO	protein measurement	WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008319	"quantification of the amount of WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 in a sample" []	1146141	\N	\N	EFO	3	EFO	measurement	WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008319	"quantification of the amount of WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 in a sample" []	2028562	\N	\N	EFO	4	EFO	information entity	WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008319	"quantification of the amount of WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 in a sample" []	3179746	\N	\N	EFO	5	EFO	experimental factor	WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement
EFO:0008320	\N	\N	"quantification of the volume of white matter in the brain, usually through an MRI scan" []	EFO:0008320	"quantification of the volume of white matter in the brain, usually through an MRI scan" []	69554	\N	\N	EFO	0	EFO	white matter volume measurement	white matter volume measurement
EFO:0006930	EFO:0008320	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0008320	"quantification of the volume of white matter in the brain, usually through an MRI scan" []	211696	\N	\N	EFO	1	EFO	brain volume measurement	white matter volume measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0008320	"quantification of the volume of white matter in the brain, usually through an MRI scan" []	564966	\N	\N	EFO	2	EFO	brain measurement	white matter volume measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008320	"quantification of the volume of white matter in the brain, usually through an MRI scan" []	1146142	\N	\N	EFO	3	EFO	measurement	white matter volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008320	"quantification of the volume of white matter in the brain, usually through an MRI scan" []	2028563	\N	\N	EFO	4	EFO	information entity	white matter volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008320	"quantification of the volume of white matter in the brain, usually through an MRI scan" []	3179747	\N	\N	EFO	5	EFO	experimental factor	white matter volume measurement
EFO:0008321	\N	\N	"quantification of the amount of WNT1-inducible-signaling pathway protein 1 in a sample" []	EFO:0008321	"quantification of the amount of WNT1-inducible-signaling pathway protein 1 in a sample" []	69555	\N	\N	EFO	0	EFO	WNT1-inducible-signaling pathway protein 1 measurement	WNT1-inducible-signaling pathway protein 1 measurement
EFO:0007937	EFO:0008321	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008321	"quantification of the amount of WNT1-inducible-signaling pathway protein 1 in a sample" []	211697	\N	\N	EFO	1	EFO	blood protein measurement	WNT1-inducible-signaling pathway protein 1 measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008321	"quantification of the amount of WNT1-inducible-signaling pathway protein 1 in a sample" []	564967	\N	\N	EFO	2	EFO	protein measurement	WNT1-inducible-signaling pathway protein 1 measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008321	"quantification of the amount of WNT1-inducible-signaling pathway protein 1 in a sample" []	1146143	\N	\N	EFO	3	EFO	measurement	WNT1-inducible-signaling pathway protein 1 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008321	"quantification of the amount of WNT1-inducible-signaling pathway protein 1 in a sample" []	2028564	\N	\N	EFO	4	EFO	information entity	WNT1-inducible-signaling pathway protein 1 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008321	"quantification of the amount of WNT1-inducible-signaling pathway protein 1 in a sample" []	3179748	\N	\N	EFO	5	EFO	experimental factor	WNT1-inducible-signaling pathway protein 1 measurement
EFO:0008322	\N	\N	"reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" []	EFO:0008322	"reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" []	69556	\N	\N	EFO	0	EFO	decreased susceptibility to bacterial infection	decreased susceptibility to bacterial infection
HP:0002715	\N	\N	"An abnormality of the immune system." [HPO:probinson]	EFO:0008322	"reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" []	194934	\N	\N	EFO	0	EFO	Abnormality of the immune system	decreased susceptibility to bacterial infection
EFO:0008323	\N	\N	"lack of production by brain cells of hypocretin, also called orexin, a neuropeptide that regulates arousal, wakefulness and appetite. Hypocretin deficiency causes the most common form of narcolepsy" []	EFO:0008323	"lack of production by brain cells of hypocretin, also called orexin, a neuropeptide that regulates arousal, wakefulness and appetite. Hypocretin deficiency causes the most common form of narcolepsy" []	69557	\N	\N	EFO	0	EFO	hypocretin deficiency	hypocretin deficiency
HP:0001939	\N	\N	"" []	EFO:0008323	"lack of production by brain cells of hypocretin, also called orexin, a neuropeptide that regulates arousal, wakefulness and appetite. Hypocretin deficiency causes the most common form of narcolepsy" []	194935	\N	\N	EFO	0	EFO	Abnormality of metabolism/homeostasis	hypocretin deficiency
EFO:0008324	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sulfasalazine stimulus. Sulfasalazine is a drug used to treat rheumatoid arthritis, ulcerative colitis and Crohn's disease." []	EFO:0008324	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sulfasalazine stimulus. Sulfasalazine is a drug used to treat rheumatoid arthritis, ulcerative colitis and Crohn's disease." []	69558	\N	\N	EFO	0	EFO	response to sulfasalazine	response to sulfasalazine
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0008324	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sulfasalazine stimulus. Sulfasalazine is a drug used to treat rheumatoid arthritis, ulcerative colitis and Crohn's disease." []	194936	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to sulfasalazine
EFO:0008325	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sotalol stimulus. Sotalol is a beta-adrenergic receptor blocker that is used to treat heart arrhythmias" []	EFO:0008325	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sotalol stimulus. Sotalol is a beta-adrenergic receptor blocker that is used to treat heart arrhythmias" []	69559	\N	\N	EFO	0	EFO	response to sotalol	response to sotalol
EFO:0007766	EFO:0008325	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a beta blocker stimulus" []	EFO:0008325	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sotalol stimulus. Sotalol is a beta-adrenergic receptor blocker that is used to treat heart arrhythmias" []	211698	\N	\N	EFO	1	EFO	response to beta blocker	response to sotalol
EFO:0008326	\N	\N	"quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 5 in a sample" []	EFO:0008326	"quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 5 in a sample" []	69560	\N	\N	EFO	0	EFO	a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement	a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement
EFO:0001444	EFO:0008326	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008326	"quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 5 in a sample" []	211699	\N	\N	EFO	1	EFO	measurement	a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008326	"quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 5 in a sample" []	564968	\N	\N	EFO	2	EFO	information entity	a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008326	"quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 5 in a sample" []	1146144	\N	\N	EFO	3	EFO	experimental factor	a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement
EFO:0008327	\N	\N	"quantification of the amount of alpha-1-antitrypsin in a sample" []	EFO:0008327	"quantification of the amount of alpha-1-antitrypsin in a sample" []	69561	\N	\N	EFO	0	EFO	alpha-1-antitrypsin measurement	alpha-1-antitrypsin measurement
EFO:0001444	EFO:0008327	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008327	"quantification of the amount of alpha-1-antitrypsin in a sample" []	211700	\N	\N	EFO	1	EFO	measurement	alpha-1-antitrypsin measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008327	"quantification of the amount of alpha-1-antitrypsin in a sample" []	564969	\N	\N	EFO	2	EFO	information entity	alpha-1-antitrypsin measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008327	"quantification of the amount of alpha-1-antitrypsin in a sample" []	1146145	\N	\N	EFO	3	EFO	experimental factor	alpha-1-antitrypsin measurement
EFO:0008328	\N	\N	"quantification of some aspect of chronotype such as ease of getting up in the morning" []	EFO:0008328	"quantification of some aspect of chronotype such as ease of getting up in the morning" []	69562	\N	\N	EFO	0	EFO	chronotype measurement	chronotype measurement
EFO:0004870	EFO:0008328	\N	"Is a quantification of some sleep parameter." []	EFO:0008328	"quantification of some aspect of chronotype such as ease of getting up in the morning" []	211701	\N	\N	EFO	1	EFO	sleep measurement	chronotype measurement
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008328	"quantification of some aspect of chronotype such as ease of getting up in the morning" []	564970	\N	\N	EFO	2	EFO	measurement	chronotype measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008328	"quantification of some aspect of chronotype such as ease of getting up in the morning" []	1146146	\N	\N	EFO	3	EFO	information entity	chronotype measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008328	"quantification of some aspect of chronotype such as ease of getting up in the morning" []	2028565	\N	\N	EFO	4	EFO	experimental factor	chronotype measurement
EFO:0008329	\N	\N	"quantification of some aspect of facial emotion recognition such as ability to differentiate between different emotions" []	EFO:0008329	"quantification of some aspect of facial emotion recognition such as ability to differentiate between different emotions" []	69563	\N	\N	EFO	0	EFO	facial emotion recognition measurement	facial emotion recognition measurement
EFO:0001444	EFO:0008329	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008329	"quantification of some aspect of facial emotion recognition such as ability to differentiate between different emotions" []	211702	\N	\N	EFO	1	EFO	measurement	facial emotion recognition measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008329	"quantification of some aspect of facial emotion recognition such as ability to differentiate between different emotions" []	564971	\N	\N	EFO	2	EFO	information entity	facial emotion recognition measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008329	"quantification of some aspect of facial emotion recognition such as ability to differentiate between different emotions" []	1146147	\N	\N	EFO	3	EFO	experimental factor	facial emotion recognition measurement
EFO:0008330	\N	\N	"quantification of some aspect of fear of pain, generallly through the use of a structured questionnaire" []	EFO:0008330	"quantification of some aspect of fear of pain, generallly through the use of a structured questionnaire" []	69564	\N	\N	EFO	0	EFO	fear of pain measurement	fear of pain measurement
EFO:0001444	EFO:0008330	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008330	"quantification of some aspect of fear of pain, generallly through the use of a structured questionnaire" []	211703	\N	\N	EFO	1	EFO	measurement	fear of pain measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008330	"quantification of some aspect of fear of pain, generallly through the use of a structured questionnaire" []	564972	\N	\N	EFO	2	EFO	information entity	fear of pain measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008330	"quantification of some aspect of fear of pain, generallly through the use of a structured questionnaire" []	1146148	\N	\N	EFO	3	EFO	experimental factor	fear of pain measurement
EFO:0008331	\N	\N	"quantification of the amount of interleukin 2 in a sample" []	EFO:0008331	"quantification of the amount of interleukin 2 in a sample" []	69565	\N	\N	EFO	0	EFO	interleukin 2 measurement	interleukin 2 measurement
EFO:0001444	EFO:0008331	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008331	"quantification of the amount of interleukin 2 in a sample" []	211704	\N	\N	EFO	1	EFO	measurement	interleukin 2 measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008331	"quantification of the amount of interleukin 2 in a sample" []	564973	\N	\N	EFO	2	EFO	information entity	interleukin 2 measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008331	"quantification of the amount of interleukin 2 in a sample" []	1146149	\N	\N	EFO	3	EFO	experimental factor	interleukin 2 measurement
EFO:0008332	\N	\N	"quantification of the amount of interleukin 2 receptor antagonist in a sample" []	EFO:0008332	"quantification of the amount of interleukin 2 receptor antagonist in a sample" []	69566	\N	\N	EFO	0	EFO	interleukin 2 receptor antagonist measurement	interleukin 2 receptor antagonist measurement
EFO:0001444	EFO:0008332	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008332	"quantification of the amount of interleukin 2 receptor antagonist in a sample" []	211705	\N	\N	EFO	1	EFO	measurement	interleukin 2 receptor antagonist measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008332	"quantification of the amount of interleukin 2 receptor antagonist in a sample" []	564974	\N	\N	EFO	2	EFO	information entity	interleukin 2 receptor antagonist measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008332	"quantification of the amount of interleukin 2 receptor antagonist in a sample" []	1146150	\N	\N	EFO	3	EFO	experimental factor	interleukin 2 receptor antagonist measurement
EFO:0008333	\N	\N	"quantification of the magnitude of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles" []	EFO:0008333	"quantification of the magnitude of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles" []	69567	\N	\N	EFO	0	EFO	T wave amplitude	T wave amplitude
EFO:0004327	EFO:0008333	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0008333	"quantification of the magnitude of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles" []	211706	\N	\N	EFO	1	EFO	electrocardiography	T wave amplitude
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0008333	"quantification of the magnitude of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles" []	564975	\N	\N	EFO	2	EFO	heart function measurement	T wave amplitude
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0008333	"quantification of the magnitude of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles" []	1146151	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	T wave amplitude
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0008333	"quantification of the magnitude of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles" []	2028566	\N	\N	EFO	4	EFO	cardiovascular measurement	T wave amplitude
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008333	"quantification of the magnitude of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles" []	3179749	\N	\N	EFO	5	EFO	measurement	T wave amplitude
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008333	"quantification of the magnitude of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles" []	4388781	\N	\N	EFO	6	EFO	information entity	T wave amplitude
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008333	"quantification of the magnitude of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles" []	5408986	\N	\N	EFO	7	EFO	experimental factor	T wave amplitude
EFO:0008334	\N	\N	"quantification of the duration of the T wave from its peak to its end" []	EFO:0008334	"quantification of the duration of the T wave from its peak to its end" []	69568	\N	\N	EFO	0	EFO	TpTe measurement	TpTe measurement
EFO:0004327	EFO:0008334	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0008334	"quantification of the duration of the T wave from its peak to its end" []	211707	\N	\N	EFO	1	EFO	electrocardiography	TpTe measurement
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0008334	"quantification of the duration of the T wave from its peak to its end" []	564976	\N	\N	EFO	2	EFO	heart function measurement	TpTe measurement
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0008334	"quantification of the duration of the T wave from its peak to its end" []	1146152	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	TpTe measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0008334	"quantification of the duration of the T wave from its peak to its end" []	2028567	\N	\N	EFO	4	EFO	cardiovascular measurement	TpTe measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008334	"quantification of the duration of the T wave from its peak to its end" []	3179750	\N	\N	EFO	5	EFO	measurement	TpTe measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008334	"quantification of the duration of the T wave from its peak to its end" []	4388782	\N	\N	EFO	6	EFO	information entity	TpTe measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008334	"quantification of the duration of the T wave from its peak to its end" []	5408987	\N	\N	EFO	7	EFO	experimental factor	TpTe measurement
EFO:0008335	\N	\N	"quantification of the duration of ventricular repolarisation or a change therein" []	EFO:0008335	"quantification of the duration of ventricular repolarisation or a change therein" []	69569	\N	\N	EFO	0	EFO	ventricular repolarisation duration measurement	ventricular repolarisation duration measurement
EFO:0004327	EFO:0008335	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0008335	"quantification of the duration of ventricular repolarisation or a change therein" []	211708	\N	\N	EFO	1	EFO	electrocardiography	ventricular repolarisation duration measurement
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0008335	"quantification of the duration of ventricular repolarisation or a change therein" []	564977	\N	\N	EFO	2	EFO	heart function measurement	ventricular repolarisation duration measurement
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0008335	"quantification of the duration of ventricular repolarisation or a change therein" []	1146153	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	ventricular repolarisation duration measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0008335	"quantification of the duration of ventricular repolarisation or a change therein" []	2028568	\N	\N	EFO	4	EFO	cardiovascular measurement	ventricular repolarisation duration measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008335	"quantification of the duration of ventricular repolarisation or a change therein" []	3179751	\N	\N	EFO	5	EFO	measurement	ventricular repolarisation duration measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008335	"quantification of the duration of ventricular repolarisation or a change therein" []	4388783	\N	\N	EFO	6	EFO	information entity	ventricular repolarisation duration measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008335	"quantification of the duration of ventricular repolarisation or a change therein" []	5408988	\N	\N	EFO	7	EFO	experimental factor	ventricular repolarisation duration measurement
EFO:0008336	\N	\N	"quantification of some aspect of disease progression such as speed or symptom variability. Disease progression can be quantified in a number of ways, for example as a correlated measure of progression scores from different symptom areas" []	EFO:0008336	"quantification of some aspect of disease progression such as speed or symptom variability. Disease progression can be quantified in a number of ways, for example as a correlated measure of progression scores from different symptom areas" []	69570	\N	\N	EFO	0	EFO	disease progression measurement	disease progression measurement
EFO:0004949	EFO:0008336	\N	"A temporal measurement related to disease progression" []	EFO:0008336	"quantification of some aspect of disease progression such as speed or symptom variability. Disease progression can be quantified in a number of ways, for example as a correlated measure of progression scores from different symptom areas" []	211709	\N	\N	EFO	1	EFO	clinical temporal measurement	disease progression measurement
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	EFO:0008336	"quantification of some aspect of disease progression such as speed or symptom variability. Disease progression can be quantified in a number of ways, for example as a correlated measure of progression scores from different symptom areas" []	564978	\N	\N	EFO	2	EFO	temporal measurement	disease progression measurement
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008336	"quantification of some aspect of disease progression such as speed or symptom variability. Disease progression can be quantified in a number of ways, for example as a correlated measure of progression scores from different symptom areas" []	1146154	\N	\N	EFO	3	EFO	measurement	disease progression measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008336	"quantification of some aspect of disease progression such as speed or symptom variability. Disease progression can be quantified in a number of ways, for example as a correlated measure of progression scores from different symptom areas" []	2028569	\N	\N	EFO	4	EFO	information entity	disease progression measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008336	"quantification of some aspect of disease progression such as speed or symptom variability. Disease progression can be quantified in a number of ways, for example as a correlated measure of progression scores from different symptom areas" []	3179752	\N	\N	EFO	5	EFO	experimental factor	disease progression measurement
EFO:0008337	\N	\N	"quantification of the level of an individual's predisposition of a psychotic disorder, based on a range of psychometric measures such as Hypomanic Personality, Perceptual Aberration, Physical and Social Anhedonia (also known as Chapmans Schizotypia scales), and Schizoidia scales. " []	EFO:0008337	"quantification of the level of an individual's predisposition of a psychotic disorder, based on a range of psychometric measures such as Hypomanic Personality, Perceptual Aberration, Physical and Social Anhedonia (also known as Chapmans Schizotypia scales), and Schizoidia scales. " []	69571	\N	\N	EFO	0	EFO	psychosis predisposition measurement	psychosis predisposition measurement
EFO:0001444	EFO:0008337	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008337	"quantification of the level of an individual's predisposition of a psychotic disorder, based on a range of psychometric measures such as Hypomanic Personality, Perceptual Aberration, Physical and Social Anhedonia (also known as Chapmans Schizotypia scales), and Schizoidia scales. " []	211710	\N	\N	EFO	1	EFO	measurement	psychosis predisposition measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008337	"quantification of the level of an individual's predisposition of a psychotic disorder, based on a range of psychometric measures such as Hypomanic Personality, Perceptual Aberration, Physical and Social Anhedonia (also known as Chapmans Schizotypia scales), and Schizoidia scales. " []	564979	\N	\N	EFO	2	EFO	information entity	psychosis predisposition measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008337	"quantification of the level of an individual's predisposition of a psychotic disorder, based on a range of psychometric measures such as Hypomanic Personality, Perceptual Aberration, Physical and Social Anhedonia (also known as Chapmans Schizotypia scales), and Schizoidia scales. " []	1146155	\N	\N	EFO	3	EFO	experimental factor	psychosis predisposition measurement
EFO:0008338	\N	\N	"quantification of some aspect of fear of severe pain, generallly assessed through the use of a structured questionnaire" []	EFO:0008338	"quantification of some aspect of fear of severe pain, generallly assessed through the use of a structured questionnaire" []	69572	\N	\N	EFO	0	EFO	fear of severe pain measurement	fear of severe pain measurement
EFO:0008330	EFO:0008338	\N	"quantification of some aspect of fear of pain, generallly through the use of a structured questionnaire" []	EFO:0008338	"quantification of some aspect of fear of severe pain, generallly assessed through the use of a structured questionnaire" []	211711	\N	\N	EFO	1	EFO	fear of pain measurement	fear of severe pain measurement
EFO:0001444	EFO:0008330	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008338	"quantification of some aspect of fear of severe pain, generallly assessed through the use of a structured questionnaire" []	564980	\N	\N	EFO	2	EFO	measurement	fear of severe pain measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008338	"quantification of some aspect of fear of severe pain, generallly assessed through the use of a structured questionnaire" []	1146156	\N	\N	EFO	3	EFO	information entity	fear of severe pain measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008338	"quantification of some aspect of fear of severe pain, generallly assessed through the use of a structured questionnaire" []	2028570	\N	\N	EFO	4	EFO	experimental factor	fear of severe pain measurement
EFO:0008339	\N	\N	"quantification of some aspect of fear of pain related to medical treatments such as dental treatments. FoP is generallly assessed through the use of a structured questionnaire" []	EFO:0008339	"quantification of some aspect of fear of pain related to medical treatments such as dental treatments. FoP is generallly assessed through the use of a structured questionnaire" []	69573	\N	\N	EFO	0	EFO	fear of medical pain measurement	fear of medical pain measurement
EFO:0008330	EFO:0008339	\N	"quantification of some aspect of fear of pain, generallly through the use of a structured questionnaire" []	EFO:0008339	"quantification of some aspect of fear of pain related to medical treatments such as dental treatments. FoP is generallly assessed through the use of a structured questionnaire" []	211712	\N	\N	EFO	1	EFO	fear of pain measurement	fear of medical pain measurement
EFO:0001444	EFO:0008330	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008339	"quantification of some aspect of fear of pain related to medical treatments such as dental treatments. FoP is generallly assessed through the use of a structured questionnaire" []	564981	\N	\N	EFO	2	EFO	measurement	fear of medical pain measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008339	"quantification of some aspect of fear of pain related to medical treatments such as dental treatments. FoP is generallly assessed through the use of a structured questionnaire" []	1146157	\N	\N	EFO	3	EFO	information entity	fear of medical pain measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008339	"quantification of some aspect of fear of pain related to medical treatments such as dental treatments. FoP is generallly assessed through the use of a structured questionnaire" []	2028571	\N	\N	EFO	4	EFO	experimental factor	fear of medical pain measurement
EFO:0008340	\N	\N	"quantification of some aspect of fear of minor pain, generally assessed through the use of a structured questionnaire" []	EFO:0008340	"quantification of some aspect of fear of minor pain, generally assessed through the use of a structured questionnaire" []	69574	\N	\N	EFO	0	EFO	fear of minor pain measurement	fear of minor pain measurement
EFO:0008330	EFO:0008340	\N	"quantification of some aspect of fear of pain, generallly through the use of a structured questionnaire" []	EFO:0008340	"quantification of some aspect of fear of minor pain, generally assessed through the use of a structured questionnaire" []	211713	\N	\N	EFO	1	EFO	fear of pain measurement	fear of minor pain measurement
EFO:0001444	EFO:0008330	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008340	"quantification of some aspect of fear of minor pain, generally assessed through the use of a structured questionnaire" []	564982	\N	\N	EFO	2	EFO	measurement	fear of minor pain measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008340	"quantification of some aspect of fear of minor pain, generally assessed through the use of a structured questionnaire" []	1146158	\N	\N	EFO	3	EFO	information entity	fear of minor pain measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008340	"quantification of some aspect of fear of minor pain, generally assessed through the use of a structured questionnaire" []	2028572	\N	\N	EFO	4	EFO	experimental factor	fear of minor pain measurement
EFO:0008341	\N	\N	"quantification of some aspect of snoring such as frequency or severity" []	EFO:0008341	"quantification of some aspect of snoring such as frequency or severity" []	69575	\N	\N	EFO	0	EFO	snoring measurement	snoring measurement
EFO:0004870	EFO:0008341	\N	"Is a quantification of some sleep parameter." []	EFO:0008341	"quantification of some aspect of snoring such as frequency or severity" []	211714	\N	\N	EFO	1	EFO	sleep measurement	snoring measurement
EFO:0001444	EFO:0004870	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008341	"quantification of some aspect of snoring such as frequency or severity" []	564983	\N	\N	EFO	2	EFO	measurement	snoring measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008341	"quantification of some aspect of snoring such as frequency or severity" []	1146159	\N	\N	EFO	3	EFO	information entity	snoring measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008341	"quantification of some aspect of snoring such as frequency or severity" []	2028573	\N	\N	EFO	4	EFO	experimental factor	snoring measurement
EFO:0008342	\N	\N	"quantification of some aspect parental emotion expression, such as the level of warmth expressed by a parent towards a child or the amount of criticism directed by a parent at a child. Emotion expression is evaluated by qualified professionals on the basis of parental responses during the clinical assessment" []	EFO:0008342	"quantification of some aspect parental emotion expression, such as the level of warmth expressed by a parent towards a child or the amount of criticism directed by a parent at a child. Emotion expression is evaluated by qualified professionals on the basis of parental responses during the clinical assessment" []	69576	\N	\N	EFO	0	EFO	parental emotion expression measurmement	parental emotion expression measurmement
EFO:0001444	EFO:0008342	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008342	"quantification of some aspect parental emotion expression, such as the level of warmth expressed by a parent towards a child or the amount of criticism directed by a parent at a child. Emotion expression is evaluated by qualified professionals on the basis of parental responses during the clinical assessment" []	211715	\N	\N	EFO	1	EFO	measurement	parental emotion expression measurmement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008342	"quantification of some aspect parental emotion expression, such as the level of warmth expressed by a parent towards a child or the amount of criticism directed by a parent at a child. Emotion expression is evaluated by qualified professionals on the basis of parental responses during the clinical assessment" []	564984	\N	\N	EFO	2	EFO	information entity	parental emotion expression measurmement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008342	"quantification of some aspect parental emotion expression, such as the level of warmth expressed by a parent towards a child or the amount of criticism directed by a parent at a child. Emotion expression is evaluated by qualified professionals on the basis of parental responses during the clinical assessment" []	1146160	\N	\N	EFO	3	EFO	experimental factor	parental emotion expression measurmement
EFO:0008343	\N	\N	"quantification of the interaction between some phenotype and biological sex" []	EFO:0008343	"quantification of the interaction between some phenotype and biological sex" []	69577	\N	\N	EFO	0	EFO	sex interaction measurement	sex interaction measurement
EFO:0001444	EFO:0008343	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008343	"quantification of the interaction between some phenotype and biological sex" []	211716	\N	\N	EFO	1	EFO	measurement	sex interaction measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008343	"quantification of the interaction between some phenotype and biological sex" []	564985	\N	\N	EFO	2	EFO	information entity	sex interaction measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008343	"quantification of the interaction between some phenotype and biological sex" []	1146161	\N	\N	EFO	3	EFO	experimental factor	sex interaction measurement
EFO:0008344	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a placebo stimulus. A placebo is a substance or treatment with no active therapeutic effect and which may be given to a person in order to deceive the recipient into thinking that it is an active treatment. " []	EFO:0008344	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a placebo stimulus. A placebo is a substance or treatment with no active therapeutic effect and which may be given to a person in order to deceive the recipient into thinking that it is an active treatment. " []	69578	\N	\N	EFO	0	EFO	response to placebo	response to placebo
GO:0050896	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism." [GOC:ai, GOC:bf]	EFO:0008344	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a placebo stimulus. A placebo is a substance or treatment with no active therapeutic effect and which may be given to a person in order to deceive the recipient into thinking that it is an active treatment. " []	194937	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_mouse,goslim_pir,gosubset_prok	EFO	0	EFO	response to stimulus	response to placebo
EFO:0008345	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an duloxetine stimulus. Duloxetine is a medication mostly used for major depressive disorder, generalized anxiety disorder, fibromyalgia and neuropathic pain." []	EFO:0008345	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an duloxetine stimulus. Duloxetine is a medication mostly used for major depressive disorder, generalized anxiety disorder, fibromyalgia and neuropathic pain." []	69579	\N	\N	EFO	0	EFO	response to duloxetine	response to duloxetine
EFO:0006325	EFO:0008345	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a serotonin-norephinephrine reuptake inhibitor stimulus" []	EFO:0008345	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an duloxetine stimulus. Duloxetine is a medication mostly used for major depressive disorder, generalized anxiety disorder, fibromyalgia and neuropathic pain." []	211717	\N	\N	EFO	1	EFO	response to serotonin-norephinephrine reuptake inhibitor	response to duloxetine
EFO:0008346	\N	\N	"A reported family history of upper gastrointestinal cancer in one or more family members." []	EFO:0008346	"A reported family history of upper gastrointestinal cancer in one or more family members." []	69580	\N	\N	EFO	0	EFO	family history of upper gastrointestinal cancer	family history of upper gastrointestinal cancer
EFO:0000493	EFO:0008346	\N	"Family history is a form of clinicaly history specifically about relevant aspects of genetic preconditions or family member's clinical history." []	EFO:0008346	"A reported family history of upper gastrointestinal cancer in one or more family members." []	211718	\N	\N	EFO	1	EFO	family history	family history of upper gastrointestinal cancer
EFO:0000352	EFO:0000493	\N	"Is an information entity about the material's (i.e., the patient's) medical record as background information relevant to the experiment." []	EFO:0008346	"A reported family history of upper gastrointestinal cancer in one or more family members." []	564986	\N	\N	EFO	2	EFO	clinical history	family history of upper gastrointestinal cancer
IAO:0000030	EFO:0000352	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008346	"A reported family history of upper gastrointestinal cancer in one or more family members." []	1146162	\N	\N	EFO	3	EFO	information entity	family history of upper gastrointestinal cancer
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008346	"A reported family history of upper gastrointestinal cancer in one or more family members." []	2028574	\N	\N	EFO	4	EFO	experimental factor	family history of upper gastrointestinal cancer
EFO:0008347	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a trastuzumab stimulus. Trastuzumab, sold under the brand name Herceptin among others, is a monoclonal antibody used to treat breast cancer." []	EFO:0008347	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a trastuzumab stimulus. Trastuzumab, sold under the brand name Herceptin among others, is a monoclonal antibody used to treat breast cancer." []	69581	\N	\N	EFO	0	EFO	response to trastuzumab	response to trastuzumab
GO:0097327	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is a substance that inhibits or prevents the proliferation of neoplasms." [CHEBI:35610, GOC:pr]	EFO:0008347	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a trastuzumab stimulus. Trastuzumab, sold under the brand name Herceptin among others, is a monoclonal antibody used to treat breast cancer." []	194938	\N	\N	EFO	0	EFO	response to antineoplastic agent	response to trastuzumab
EFO:0008348	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a randibizumab stimulus. Randibizumab is a monoclonal antibody fragment used to treat the \\"wet\\" type of age-related macular degeneration." []	EFO:0008348	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a randibizumab stimulus. Randibizumab is a monoclonal antibody fragment used to treat the \\"wet\\" type of age-related macular degeneration." []	69582	\N	\N	EFO	0	EFO	response to ranibizumab	response to ranibizumab
GO:0042493	\N	\N	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." [GOC:jl]	EFO:0008348	"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a randibizumab stimulus. Randibizumab is a monoclonal antibody fragment used to treat the \\"wet\\" type of age-related macular degeneration." []	194939	\N	goslim_candida,gosubset_prok	EFO	0	EFO	response to drug	response to ranibizumab
EFO:0008349	\N	\N	"A type of hyponatremia related to ingestion of the diuretic thiazide" []	EFO:0008349	"A type of hyponatremia related to ingestion of the diuretic thiazide" []	69583	\N	\N	EFO	0	EFO	thiazide-induced hyponatremia	thiazide-induced hyponatremia
HP:0002902	\N	\N	"An abnormally decreased sodium concentration in the blood." [HPO:probinson]	EFO:0008349	"A type of hyponatremia related to ingestion of the diuretic thiazide" []	194940	\N	\N	EFO	0	EFO	Hyponatremia	thiazide-induced hyponatremia
EFO:0008350	\N	\N	"quantification of the amount of alpha-linoleic acid in a sample" []	EFO:0008350	"quantification of the amount of alpha-linoleic acid in a sample" []	69584	\N	\N	EFO	0	EFO	alpha-linoleic acid measurement	alpha-linoleic acid measurement
EFO:0005110	EFO:0008350	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0008350	"quantification of the amount of alpha-linoleic acid in a sample" []	211719	\N	\N	EFO	1	EFO	fatty acid measurement	alpha-linoleic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0008350	"quantification of the amount of alpha-linoleic acid in a sample" []	564987	\N	\N	EFO	2	EFO	lipid measurement	alpha-linoleic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0008350	"quantification of the amount of alpha-linoleic acid in a sample" []	1146163	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	alpha-linoleic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008350	"quantification of the amount of alpha-linoleic acid in a sample" []	2028575	\N	\N	EFO	4	EFO	measurement	alpha-linoleic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008350	"quantification of the amount of alpha-linoleic acid in a sample" []	3179753	\N	\N	EFO	5	EFO	information entity	alpha-linoleic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008350	"quantification of the amount of alpha-linoleic acid in a sample" []	4388784	\N	\N	EFO	6	EFO	experimental factor	alpha-linoleic acid measurement
EFO:0008351	\N	\N	"quantification of some aspect of the deposition of amyloid proteins in an organ" []	EFO:0008351	"quantification of some aspect of the deposition of amyloid proteins in an organ" []	69585	\N	\N	EFO	0	EFO	amyloid deposition measurement	amyloid deposition measurement
EFO:0001444	EFO:0008351	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008351	"quantification of some aspect of the deposition of amyloid proteins in an organ" []	211720	\N	\N	EFO	1	EFO	measurement	amyloid deposition measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008351	"quantification of some aspect of the deposition of amyloid proteins in an organ" []	564988	\N	\N	EFO	2	EFO	information entity	amyloid deposition measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008351	"quantification of some aspect of the deposition of amyloid proteins in an organ" []	1146164	\N	\N	EFO	3	EFO	experimental factor	amyloid deposition measurement
EFO:0008352	\N	\N	"quantification of the presence or absence of C9orf72 mutations in a tissue sample or an individual" []	EFO:0008352	"quantification of the presence or absence of C9orf72 mutations in a tissue sample or an individual" []	69586	\N	\N	EFO	0	EFO	C9orf72 mutation status	C9orf72 mutation status
EFO:0001444	EFO:0008352	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008352	"quantification of the presence or absence of C9orf72 mutations in a tissue sample or an individual" []	211721	\N	\N	EFO	1	EFO	measurement	C9orf72 mutation status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008352	"quantification of the presence or absence of C9orf72 mutations in a tissue sample or an individual" []	564989	\N	\N	EFO	2	EFO	information entity	C9orf72 mutation status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008352	"quantification of the presence or absence of C9orf72 mutations in a tissue sample or an individual" []	1146165	\N	\N	EFO	3	EFO	experimental factor	C9orf72 mutation status
EFO:0008353	\N	\N	"quantification of the amount cellular adhesion molecule in a sample" []	EFO:0008353	"quantification of the amount cellular adhesion molecule in a sample" []	69587	\N	\N	EFO	0	EFO	cellular adhesion molecule measurement	cellular adhesion molecule measurement
EFO:0007937	EFO:0008353	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008353	"quantification of the amount cellular adhesion molecule in a sample" []	211722	\N	\N	EFO	1	EFO	blood protein measurement	cellular adhesion molecule measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008353	"quantification of the amount cellular adhesion molecule in a sample" []	564990	\N	\N	EFO	2	EFO	protein measurement	cellular adhesion molecule measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008353	"quantification of the amount cellular adhesion molecule in a sample" []	1146166	\N	\N	EFO	3	EFO	measurement	cellular adhesion molecule measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008353	"quantification of the amount cellular adhesion molecule in a sample" []	2028576	\N	\N	EFO	4	EFO	information entity	cellular adhesion molecule measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008353	"quantification of the amount cellular adhesion molecule in a sample" []	3179754	\N	\N	EFO	5	EFO	experimental factor	cellular adhesion molecule measurement
EFO:0008354	\N	\N	"quantification of some aspect of cognitive function" []	EFO:0008354	"quantification of some aspect of cognitive function" []	69588	\N	\N	EFO	0	EFO	cognitive function measurement	cognitive function measurement
EFO:0001444	EFO:0008354	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008354	"quantification of some aspect of cognitive function" []	211723	\N	\N	EFO	1	EFO	measurement	cognitive function measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008354	"quantification of some aspect of cognitive function" []	564991	\N	\N	EFO	2	EFO	information entity	cognitive function measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008354	"quantification of some aspect of cognitive function" []	1146167	\N	\N	EFO	3	EFO	experimental factor	cognitive function measurement
EFO:0008355	\N	\N	"quantification of the amount of heme iron acquired through dietary intake" []	EFO:0008355	"quantification of the amount of heme iron acquired through dietary intake" []	69589	\N	\N	EFO	0	EFO	dietary heme iron intake measurement	dietary heme iron intake measurement
EFO:0008111	EFO:0008355	\N	"quantification of some aspect of diet, including diet patterns, balance of nutrient consumption and glycemic load" []	EFO:0008355	"quantification of the amount of heme iron acquired through dietary intake" []	211724	\N	\N	EFO	1	EFO	diet measurement	dietary heme iron intake measurement
EFO:0001444	EFO:0008111	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008355	"quantification of the amount of heme iron acquired through dietary intake" []	564992	\N	\N	EFO	2	EFO	measurement	dietary heme iron intake measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008355	"quantification of the amount of heme iron acquired through dietary intake" []	1146168	\N	\N	EFO	3	EFO	information entity	dietary heme iron intake measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008355	"quantification of the amount of heme iron acquired through dietary intake" []	2028577	\N	\N	EFO	4	EFO	experimental factor	dietary heme iron intake measurement
EFO:0008356	\N	\N	"quantification of the amount of dihomo-gamma-linoleic acid in a sample" []	EFO:0008356	"quantification of the amount of dihomo-gamma-linoleic acid in a sample" []	69590	\N	\N	EFO	0	EFO	dihomo-gamma-linoleic acid measurement	dihomo-gamma-linoleic acid measurement
EFO:0005110	EFO:0008356	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0008356	"quantification of the amount of dihomo-gamma-linoleic acid in a sample" []	211725	\N	\N	EFO	1	EFO	fatty acid measurement	dihomo-gamma-linoleic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0008356	"quantification of the amount of dihomo-gamma-linoleic acid in a sample" []	564993	\N	\N	EFO	2	EFO	lipid measurement	dihomo-gamma-linoleic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0008356	"quantification of the amount of dihomo-gamma-linoleic acid in a sample" []	1146169	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	dihomo-gamma-linoleic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008356	"quantification of the amount of dihomo-gamma-linoleic acid in a sample" []	2028578	\N	\N	EFO	4	EFO	measurement	dihomo-gamma-linoleic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008356	"quantification of the amount of dihomo-gamma-linoleic acid in a sample" []	3179755	\N	\N	EFO	5	EFO	information entity	dihomo-gamma-linoleic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008356	"quantification of the amount of dihomo-gamma-linoleic acid in a sample" []	4388785	\N	\N	EFO	6	EFO	experimental factor	dihomo-gamma-linoleic acid measurement
EFO:0008357	\N	\N	"quantification of the amount of docosatetranoic acid in a sample" []	EFO:0008357	"quantification of the amount of docosatetranoic acid in a sample" []	69591	\N	\N	EFO	0	EFO	docosatetranoic acid measurement	docosatetranoic acid measurement
EFO:0005110	EFO:0008357	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0008357	"quantification of the amount of docosatetranoic acid in a sample" []	211726	\N	\N	EFO	1	EFO	fatty acid measurement	docosatetranoic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0008357	"quantification of the amount of docosatetranoic acid in a sample" []	564994	\N	\N	EFO	2	EFO	lipid measurement	docosatetranoic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0008357	"quantification of the amount of docosatetranoic acid in a sample" []	1146170	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	docosatetranoic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008357	"quantification of the amount of docosatetranoic acid in a sample" []	2028579	\N	\N	EFO	4	EFO	measurement	docosatetranoic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008357	"quantification of the amount of docosatetranoic acid in a sample" []	3179756	\N	\N	EFO	5	EFO	information entity	docosatetranoic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008357	"quantification of the amount of docosatetranoic acid in a sample" []	4388786	\N	\N	EFO	6	EFO	experimental factor	docosatetranoic acid measurement
EFO:0008358	\N	\N	"quantification of the function of the dorsolateral prefrontal cortex, an area of the prefrontal cortex strongly implicated in schizophrenia." []	EFO:0008358	"quantification of the function of the dorsolateral prefrontal cortex, an area of the prefrontal cortex strongly implicated in schizophrenia." []	69592	\N	\N	EFO	0	EFO	dorsolateral prefrontal cortex functional measurement	dorsolateral prefrontal cortex functional measurement
EFO:0007849	EFO:0008358	\N	"quantification of brain function, usually via functional magnetic resonance imaging (MRI), for example using blood-oxygen-level dependent contrast imaging (BOLD), often measured in response to a stimulus such as performing a task or exposure to images, sounds or smells" []	EFO:0008358	"quantification of the function of the dorsolateral prefrontal cortex, an area of the prefrontal cortex strongly implicated in schizophrenia." []	211727	\N	\N	EFO	1	EFO	functional brain measurement	dorsolateral prefrontal cortex functional measurement
EFO:0004346	EFO:0007849	\N	"Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan" []	EFO:0008358	"quantification of the function of the dorsolateral prefrontal cortex, an area of the prefrontal cortex strongly implicated in schizophrenia." []	564995	\N	\N	EFO	2	EFO	neuroimaging measurement	dorsolateral prefrontal cortex functional measurement
EFO:0004464	EFO:0007849	\N	"" []	EFO:0008358	"quantification of the function of the dorsolateral prefrontal cortex, an area of the prefrontal cortex strongly implicated in schizophrenia." []	564996	\N	\N	EFO	2	EFO	brain measurement	dorsolateral prefrontal cortex functional measurement
EFO:0001444	EFO:0004346	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008358	"quantification of the function of the dorsolateral prefrontal cortex, an area of the prefrontal cortex strongly implicated in schizophrenia." []	1146171	\N	\N	EFO	3	EFO	measurement	dorsolateral prefrontal cortex functional measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008358	"quantification of the function of the dorsolateral prefrontal cortex, an area of the prefrontal cortex strongly implicated in schizophrenia." []	1146172	\N	\N	EFO	3	EFO	measurement	dorsolateral prefrontal cortex functional measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008358	"quantification of the function of the dorsolateral prefrontal cortex, an area of the prefrontal cortex strongly implicated in schizophrenia." []	2028580	\N	\N	EFO	4	EFO	information entity	dorsolateral prefrontal cortex functional measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008358	"quantification of the function of the dorsolateral prefrontal cortex, an area of the prefrontal cortex strongly implicated in schizophrenia." []	3179757	\N	\N	EFO	5	EFO	experimental factor	dorsolateral prefrontal cortex functional measurement
EFO:0008359	\N	\N	"quantification of the amount of eicosadienoic acid in a sample" []	EFO:0008359	"quantification of the amount of eicosadienoic acid in a sample" []	69593	\N	\N	EFO	0	EFO	eicosadienoic acid measurement	eicosadienoic acid measurement
EFO:0005110	EFO:0008359	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0008359	"quantification of the amount of eicosadienoic acid in a sample" []	211728	\N	\N	EFO	1	EFO	fatty acid measurement	eicosadienoic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0008359	"quantification of the amount of eicosadienoic acid in a sample" []	564997	\N	\N	EFO	2	EFO	lipid measurement	eicosadienoic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0008359	"quantification of the amount of eicosadienoic acid in a sample" []	1146173	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	eicosadienoic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008359	"quantification of the amount of eicosadienoic acid in a sample" []	2028581	\N	\N	EFO	4	EFO	measurement	eicosadienoic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008359	"quantification of the amount of eicosadienoic acid in a sample" []	3179758	\N	\N	EFO	5	EFO	information entity	eicosadienoic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008359	"quantification of the amount of eicosadienoic acid in a sample" []	4388787	\N	\N	EFO	6	EFO	experimental factor	eicosadienoic acid measurement
EFO:0008360	\N	\N	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	EFO:0008360	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	69594	\N	\N	EFO	0	EFO	environmental exposure measurement	environmental exposure measurement
EFO:0001444	EFO:0008360	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008360	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	211729	\N	\N	EFO	1	EFO	measurement	environmental exposure measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008360	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	564998	\N	\N	EFO	2	EFO	information entity	environmental exposure measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008360	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	1146174	\N	\N	EFO	3	EFO	experimental factor	environmental exposure measurement
EFO:0008361	\N	\N	"quantification of some aspect of environmental tobacco smoke exposure" []	EFO:0008361	"quantification of some aspect of environmental tobacco smoke exposure" []	69595	\N	\N	EFO	0	EFO	environmental tobacco smoke exposure measurement	environmental tobacco smoke exposure measurement
EFO:0008360	EFO:0008361	\N	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	EFO:0008361	"quantification of some aspect of environmental tobacco smoke exposure" []	211730	\N	\N	EFO	1	EFO	environmental exposure measurement	environmental tobacco smoke exposure measurement
EFO:0001444	EFO:0008360	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008361	"quantification of some aspect of environmental tobacco smoke exposure" []	564999	\N	\N	EFO	2	EFO	measurement	environmental tobacco smoke exposure measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008361	"quantification of some aspect of environmental tobacco smoke exposure" []	1146175	\N	\N	EFO	3	EFO	information entity	environmental tobacco smoke exposure measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008361	"quantification of some aspect of environmental tobacco smoke exposure" []	2028582	\N	\N	EFO	4	EFO	experimental factor	environmental tobacco smoke exposure measurement
EFO:0008362	\N	\N	"quantification of some aspect of an individual's exposure to a farm environment such as frequeny or duration. Farm exposure may have a beneficial or protective effect against certain conditions such as asthma" []	EFO:0008362	"quantification of some aspect of an individual's exposure to a farm environment such as frequeny or duration. Farm exposure may have a beneficial or protective effect against certain conditions such as asthma" []	69596	\N	\N	EFO	0	EFO	farm exposure measurement	farm exposure measurement
EFO:0008360	EFO:0008362	\N	"quantification of some aspect of exposure to an environmental factor such as pollutants" []	EFO:0008362	"quantification of some aspect of an individual's exposure to a farm environment such as frequeny or duration. Farm exposure may have a beneficial or protective effect against certain conditions such as asthma" []	211731	\N	\N	EFO	1	EFO	environmental exposure measurement	farm exposure measurement
EFO:0001444	EFO:0008360	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008362	"quantification of some aspect of an individual's exposure to a farm environment such as frequeny or duration. Farm exposure may have a beneficial or protective effect against certain conditions such as asthma" []	565000	\N	\N	EFO	2	EFO	measurement	farm exposure measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008362	"quantification of some aspect of an individual's exposure to a farm environment such as frequeny or duration. Farm exposure may have a beneficial or protective effect against certain conditions such as asthma" []	1146176	\N	\N	EFO	3	EFO	information entity	farm exposure measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008362	"quantification of some aspect of an individual's exposure to a farm environment such as frequeny or duration. Farm exposure may have a beneficial or protective effect against certain conditions such as asthma" []	2028583	\N	\N	EFO	4	EFO	experimental factor	farm exposure measurement
EFO:0008363	\N	\N	"quantification of the amount of gamma-linoleic acid in a sample" []	EFO:0008363	"quantification of the amount of gamma-linoleic acid in a sample" []	69597	\N	\N	EFO	0	EFO	gamma-linoleic acid measurement	gamma-linoleic acid measurement
EFO:0005110	EFO:0008363	\N	"The determination of the amount of fatty acids present in a sample." []	EFO:0008363	"quantification of the amount of gamma-linoleic acid in a sample" []	211732	\N	\N	EFO	1	EFO	fatty acid measurement	gamma-linoleic acid measurement
EFO:0004529	EFO:0005110	\N	"A measure of circulating lipid" []	EFO:0008363	"quantification of the amount of gamma-linoleic acid in a sample" []	565001	\N	\N	EFO	2	EFO	lipid measurement	gamma-linoleic acid measurement
EFO:0005105	EFO:0004529	\N	"quantification of some lipid or lipoprotein" []	EFO:0008363	"quantification of the amount of gamma-linoleic acid in a sample" []	1146177	\N	\N	EFO	3	EFO	lipid or lipoprotein measurement	gamma-linoleic acid measurement
EFO:0001444	EFO:0005105	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008363	"quantification of the amount of gamma-linoleic acid in a sample" []	2028584	\N	\N	EFO	4	EFO	measurement	gamma-linoleic acid measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008363	"quantification of the amount of gamma-linoleic acid in a sample" []	3179759	\N	\N	EFO	5	EFO	information entity	gamma-linoleic acid measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008363	"quantification of the amount of gamma-linoleic acid in a sample" []	4388788	\N	\N	EFO	6	EFO	experimental factor	gamma-linoleic acid measurement
EFO:0008364	\N	\N	"quantification of the effect of belonging to a specific generation on a genotype effect" []	EFO:0008364	"quantification of the effect of belonging to a specific generation on a genotype effect" []	69598	\N	\N	EFO	0	EFO	generational effect measurement	generational effect measurement
EFO:0001444	EFO:0008364	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008364	"quantification of the effect of belonging to a specific generation on a genotype effect" []	211733	\N	\N	EFO	1	EFO	measurement	generational effect measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008364	"quantification of the effect of belonging to a specific generation on a genotype effect" []	565002	\N	\N	EFO	2	EFO	information entity	generational effect measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008364	"quantification of the effect of belonging to a specific generation on a genotype effect" []	1146178	\N	\N	EFO	3	EFO	experimental factor	generational effect measurement
EFO:0008365	\N	\N	"quantification of some aspect of the deposition of amyloid proteins in the heart" []	EFO:0008365	"quantification of some aspect of the deposition of amyloid proteins in the heart" []	69599	\N	\N	EFO	0	EFO	heart amyloid deposition measurement	heart amyloid deposition measurement
EFO:0004311	EFO:0008365	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0008365	"quantification of some aspect of the deposition of amyloid proteins in the heart" []	211734	\N	\N	EFO	1	EFO	heart function measurement	heart amyloid deposition measurement
EFO:0008351	EFO:0008365	\N	"quantification of some aspect of the deposition of amyloid proteins in an organ" []	EFO:0008365	"quantification of some aspect of the deposition of amyloid proteins in the heart" []	211735	\N	\N	EFO	1	EFO	amyloid deposition measurement	heart amyloid deposition measurement
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0008365	"quantification of some aspect of the deposition of amyloid proteins in the heart" []	565003	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	heart amyloid deposition measurement
EFO:0001444	EFO:0008351	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008365	"quantification of some aspect of the deposition of amyloid proteins in the heart" []	565004	\N	\N	EFO	2	EFO	measurement	heart amyloid deposition measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0008365	"quantification of some aspect of the deposition of amyloid proteins in the heart" []	1146179	\N	\N	EFO	3	EFO	cardiovascular measurement	heart amyloid deposition measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008365	"quantification of some aspect of the deposition of amyloid proteins in the heart" []	3179760	\N	\N	EFO	5	EFO	information entity	heart amyloid deposition measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008365	"quantification of some aspect of the deposition of amyloid proteins in the heart" []	2028585	\N	\N	EFO	4	EFO	measurement	heart amyloid deposition measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008365	"quantification of some aspect of the deposition of amyloid proteins in the heart" []	4066736	\N	\N	EFO	6	EFO	experimental factor	heart amyloid deposition measurement
EFO:0008366	\N	\N	"quantification of immunoglobulin G in a sample as light chain or heavy chain or kappy type or lambda type" []	EFO:0008366	"quantification of immunoglobulin G in a sample as light chain or heavy chain or kappy type or lambda type" []	69600	\N	\N	EFO	0	EFO	IgG isotype profile measurement	IgG isotype profile measurement
EFO:0004565	EFO:0008366	\N	"A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum" []	EFO:0008366	"quantification of immunoglobulin G in a sample as light chain or heavy chain or kappy type or lambda type" []	211736	\N	\N	EFO	1	EFO	serum IgG measurement	IgG isotype profile measurement
EFO:0004556	EFO:0004565	\N	"Is the quantification of some antibody" []	EFO:0008366	"quantification of immunoglobulin G in a sample as light chain or heavy chain or kappy type or lambda type" []	565005	\N	\N	EFO	2	EFO	antibody measurement	IgG isotype profile measurement
EFO:0001444	EFO:0004556	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008366	"quantification of immunoglobulin G in a sample as light chain or heavy chain or kappy type or lambda type" []	1146181	\N	\N	EFO	3	EFO	measurement	IgG isotype profile measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008366	"quantification of immunoglobulin G in a sample as light chain or heavy chain or kappy type or lambda type" []	2028587	\N	\N	EFO	4	EFO	information entity	IgG isotype profile measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008366	"quantification of immunoglobulin G in a sample as light chain or heavy chain or kappy type or lambda type" []	3179761	\N	\N	EFO	5	EFO	experimental factor	IgG isotype profile measurement
EFO:0008367	\N	\N	"quantification of the volume of cerebrospinal fluid in an infant's brain" []	EFO:0008367	"quantification of the volume of cerebrospinal fluid in an infant's brain" []	69601	\N	\N	EFO	0	EFO	infant cerebrospinal fluid volume measurement	infant cerebrospinal fluid volume measurement
EFO:0008080	EFO:0008367	\N	"quantification of the volume of cerebrospinal fluid in the brain, usually through an MRI scan" []	EFO:0008367	"quantification of the volume of cerebrospinal fluid in an infant's brain" []	211737	\N	\N	EFO	1	EFO	cerebrospinal fluid volume measurement	infant cerebrospinal fluid volume measurement
EFO:0006794	EFO:0008080	\N	"A cerebrospinal fluid biomarker measurement is a quantification in cerebrospinal fluid of some molecule e.g. protein or metabolite that acts as a biomarker for some disease, eg Alzheimer's disease" []	EFO:0008367	"quantification of the volume of cerebrospinal fluid in an infant's brain" []	565006	\N	\N	EFO	2	EFO	cerebrospinal fluid biomarker measurement	infant cerebrospinal fluid volume measurement
EFO:0006930	EFO:0008080	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0008367	"quantification of the volume of cerebrospinal fluid in an infant's brain" []	565007	\N	\N	EFO	2	EFO	brain volume measurement	infant cerebrospinal fluid volume measurement
EFO:0001444	EFO:0006794	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008367	"quantification of the volume of cerebrospinal fluid in an infant's brain" []	1146182	\N	\N	EFO	3	EFO	measurement	infant cerebrospinal fluid volume measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0008367	"quantification of the volume of cerebrospinal fluid in an infant's brain" []	1146183	\N	\N	EFO	3	EFO	brain measurement	infant cerebrospinal fluid volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008367	"quantification of the volume of cerebrospinal fluid in an infant's brain" []	3179763	\N	\N	EFO	5	EFO	information entity	infant cerebrospinal fluid volume measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008367	"quantification of the volume of cerebrospinal fluid in an infant's brain" []	2028589	\N	\N	EFO	4	EFO	measurement	infant cerebrospinal fluid volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008367	"quantification of the volume of cerebrospinal fluid in an infant's brain" []	4132793	\N	\N	EFO	6	EFO	experimental factor	infant cerebrospinal fluid volume measurement
EFO:0008368	\N	\N	"quantification of the volume of grey matter in an infant's brain" []	EFO:0008368	"quantification of the volume of grey matter in an infant's brain" []	69602	\N	\N	EFO	0	EFO	infant grey matter volume measurement	infant grey matter volume measurement
EFO:0005420	EFO:0008368	\N	"quantification of the volume of grey matter in the brain, usuallly through an MRI scan. Grey matter volume is associated with schizophrenia." []	EFO:0008368	"quantification of the volume of grey matter in an infant's brain" []	211738	\N	\N	EFO	1	EFO	grey matter volume measurement	infant grey matter volume measurement
EFO:0006848	EFO:0005420	\N	"Is the quantification of some marker used in the diagnosis or clinical management of some mental or behavioural disorder." []	EFO:0008368	"quantification of the volume of grey matter in an infant's brain" []	565008	\N	\N	EFO	2	EFO	mental or behavioural disorder biomarker	infant grey matter volume measurement
EFO:0006930	EFO:0005420	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0008368	"quantification of the volume of grey matter in an infant's brain" []	565009	\N	\N	EFO	2	EFO	brain volume measurement	infant grey matter volume measurement
EFO:0001444	EFO:0006848	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008368	"quantification of the volume of grey matter in an infant's brain" []	1146184	\N	\N	EFO	3	EFO	measurement	infant grey matter volume measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0008368	"quantification of the volume of grey matter in an infant's brain" []	1146185	\N	\N	EFO	3	EFO	brain measurement	infant grey matter volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008368	"quantification of the volume of grey matter in an infant's brain" []	3179765	\N	\N	EFO	5	EFO	information entity	infant grey matter volume measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008368	"quantification of the volume of grey matter in an infant's brain" []	2028591	\N	\N	EFO	4	EFO	measurement	infant grey matter volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008368	"quantification of the volume of grey matter in an infant's brain" []	4132794	\N	\N	EFO	6	EFO	experimental factor	infant grey matter volume measurement
EFO:0008369	\N	\N	"quantification of an infant's intracranial volume" []	EFO:0008369	"quantification of an infant's intracranial volume" []	69603	\N	\N	EFO	0	EFO	infant intracranial volume measurement	infant intracranial volume measurement
EFO:0004886	EFO:0008369	\N	"Is a quantification of intracranial volume." []	EFO:0008369	"quantification of an infant's intracranial volume" []	211739	\N	\N	EFO	1	EFO	intracranial volume measurement	infant intracranial volume measurement
EFO:0006930	EFO:0004886	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0008369	"quantification of an infant's intracranial volume" []	565010	\N	\N	EFO	2	EFO	brain volume measurement	infant intracranial volume measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0008369	"quantification of an infant's intracranial volume" []	1146186	\N	\N	EFO	3	EFO	brain measurement	infant intracranial volume measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008369	"quantification of an infant's intracranial volume" []	2028592	\N	\N	EFO	4	EFO	measurement	infant intracranial volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008369	"quantification of an infant's intracranial volume" []	3179766	\N	\N	EFO	5	EFO	information entity	infant intracranial volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008369	"quantification of an infant's intracranial volume" []	4388789	\N	\N	EFO	6	EFO	experimental factor	infant intracranial volume measurement
EFO:0008370	\N	\N	"quantification of the volume of white matter in an infant's brain" []	EFO:0008370	"quantification of the volume of white matter in an infant's brain" []	69604	\N	\N	EFO	0	EFO	infant white matter volume measurement	infant white matter volume measurement
EFO:0008320	EFO:0008370	\N	"quantification of the volume of white matter in the brain, usually through an MRI scan" []	EFO:0008370	"quantification of the volume of white matter in an infant's brain" []	211740	\N	\N	EFO	1	EFO	white matter volume measurement	infant white matter volume measurement
EFO:0006930	EFO:0008320	\N	"quantification of the volume of the brain or of a part of the brain" []	EFO:0008370	"quantification of the volume of white matter in an infant's brain" []	565011	\N	\N	EFO	2	EFO	brain volume measurement	infant white matter volume measurement
EFO:0004464	EFO:0006930	\N	"" []	EFO:0008370	"quantification of the volume of white matter in an infant's brain" []	1146187	\N	\N	EFO	3	EFO	brain measurement	infant white matter volume measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008370	"quantification of the volume of white matter in an infant's brain" []	2028593	\N	\N	EFO	4	EFO	measurement	infant white matter volume measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008370	"quantification of the volume of white matter in an infant's brain" []	3179767	\N	\N	EFO	5	EFO	information entity	infant white matter volume measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008370	"quantification of the volume of white matter in an infant's brain" []	4388790	\N	\N	EFO	6	EFO	experimental factor	infant white matter volume measurement
EFO:0008371	\N	\N	"quantification of some aspect of the deposition of amyloid proteins in the kidney" []	EFO:0008371	"quantification of some aspect of the deposition of amyloid proteins in the kidney" []	69605	\N	\N	EFO	0	EFO	kidney amyloid deposition measurement	kidney amyloid deposition measurement
EFO:0008351	EFO:0008371	\N	"quantification of some aspect of the deposition of amyloid proteins in an organ" []	EFO:0008371	"quantification of some aspect of the deposition of amyloid proteins in the kidney" []	211741	\N	\N	EFO	1	EFO	amyloid deposition measurement	kidney amyloid deposition measurement
EFO:0001444	EFO:0008351	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008371	"quantification of some aspect of the deposition of amyloid proteins in the kidney" []	565012	\N	\N	EFO	2	EFO	measurement	kidney amyloid deposition measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008371	"quantification of some aspect of the deposition of amyloid proteins in the kidney" []	1146188	\N	\N	EFO	3	EFO	information entity	kidney amyloid deposition measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008371	"quantification of some aspect of the deposition of amyloid proteins in the kidney" []	2028594	\N	\N	EFO	4	EFO	experimental factor	kidney amyloid deposition measurement
EFO:0008372	\N	\N	"quantification of some aspect of laterality such as scoring concepts as unilateral or bilateral" []	EFO:0008372	"quantification of some aspect of laterality such as scoring concepts as unilateral or bilateral" []	69606	\N	\N	EFO	0	EFO	laterality measurement	laterality measurement
EFO:0001444	EFO:0008372	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008372	"quantification of some aspect of laterality such as scoring concepts as unilateral or bilateral" []	211742	\N	\N	EFO	1	EFO	measurement	laterality measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008372	"quantification of some aspect of laterality such as scoring concepts as unilateral or bilateral" []	565013	\N	\N	EFO	2	EFO	information entity	laterality measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008372	"quantification of some aspect of laterality such as scoring concepts as unilateral or bilateral" []	1146189	\N	\N	EFO	3	EFO	experimental factor	laterality measurement
EFO:0008373	\N	\N	"quantification of the volumetric fraction of blood pumped out of the left ventricle" []	EFO:0008373	"quantification of the volumetric fraction of blood pumped out of the left ventricle" []	69607	\N	\N	EFO	0	EFO	left ventricular ejection fraction measurement	left ventricular ejection fraction measurement
EFO:0005527	EFO:0008373	\N	"quantification of the volumetric fraction of blood pumped out of the left and right ventricle with each heartbeat or cardiac cycle" []	EFO:0008373	"quantification of the volumetric fraction of blood pumped out of the left ventricle" []	211743	\N	\N	EFO	1	EFO	ejection fraction measurement	left ventricular ejection fraction measurement
EFO:0005278	EFO:0005527	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0008373	"quantification of the volumetric fraction of blood pumped out of the left ventricle" []	565014	\N	\N	EFO	2	EFO	cardiovascular disease biomarker measurement	left ventricular ejection fraction measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0008373	"quantification of the volumetric fraction of blood pumped out of the left ventricle" []	1146190	\N	\N	EFO	3	EFO	cardiovascular measurement	left ventricular ejection fraction measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008373	"quantification of the volumetric fraction of blood pumped out of the left ventricle" []	2028595	\N	\N	EFO	4	EFO	measurement	left ventricular ejection fraction measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008373	"quantification of the volumetric fraction of blood pumped out of the left ventricle" []	3179768	\N	\N	EFO	5	EFO	information entity	left ventricular ejection fraction measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008373	"quantification of the volumetric fraction of blood pumped out of the left ventricle" []	4388791	\N	\N	EFO	6	EFO	experimental factor	left ventricular ejection fraction measurement
EFO:0008374	\N	\N	"quantification of some aspect of the deposition of amyloid proteins in the liver" []	EFO:0008374	"quantification of some aspect of the deposition of amyloid proteins in the liver" []	69608	\N	\N	EFO	0	EFO	liver amyloid deposition measurement	liver amyloid deposition measurement
EFO:0008351	EFO:0008374	\N	"quantification of some aspect of the deposition of amyloid proteins in an organ" []	EFO:0008374	"quantification of some aspect of the deposition of amyloid proteins in the liver" []	211744	\N	\N	EFO	1	EFO	amyloid deposition measurement	liver amyloid deposition measurement
EFO:0001444	EFO:0008351	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008374	"quantification of some aspect of the deposition of amyloid proteins in the liver" []	565015	\N	\N	EFO	2	EFO	measurement	liver amyloid deposition measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008374	"quantification of some aspect of the deposition of amyloid proteins in the liver" []	1146191	\N	\N	EFO	3	EFO	information entity	liver amyloid deposition measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008374	"quantification of some aspect of the deposition of amyloid proteins in the liver" []	2028596	\N	\N	EFO	4	EFO	experimental factor	liver amyloid deposition measurement
EFO:0008375	\N	\N	"quantification of some aspect of the macula" []	EFO:0008375	"quantification of some aspect of the macula" []	69609	\N	\N	EFO	0	EFO	macula measurement	macula measurement
EFO:0004731	EFO:0008375	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0008375	"quantification of some aspect of the macula" []	211745	\N	\N	EFO	1	EFO	eye measurement	macula measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008375	"quantification of some aspect of the macula" []	565016	\N	\N	EFO	2	EFO	measurement	macula measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008375	"quantification of some aspect of the macula" []	1146192	\N	\N	EFO	3	EFO	information entity	macula measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008375	"quantification of some aspect of the macula" []	2028597	\N	\N	EFO	4	EFO	experimental factor	macula measurement
EFO:0008376	\N	\N	"quantification of some aspect of mosquito bites" []	EFO:0008376	"quantification of some aspect of mosquito bites" []	69610	\N	\N	EFO	0	EFO	mosquito bite measurement	mosquito bite measurement
EFO:0001444	EFO:0008376	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008376	"quantification of some aspect of mosquito bites" []	211746	\N	\N	EFO	1	EFO	measurement	mosquito bite measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008376	"quantification of some aspect of mosquito bites" []	565017	\N	\N	EFO	2	EFO	information entity	mosquito bite measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008376	"quantification of some aspect of mosquito bites" []	1146193	\N	\N	EFO	3	EFO	experimental factor	mosquito bite measurement
EFO:0008377	\N	\N	"quanitifcation of the itch intensity of a mosquito bite reaction, generally through the use of a standardised questionnaire" []	EFO:0008377	"quanitifcation of the itch intensity of a mosquito bite reaction, generally through the use of a standardised questionnaire" []	69611	\N	\N	EFO	0	EFO	mosquito bite reaction itch intensity measurement	mosquito bite reaction itch intensity measurement
EFO:0008376	EFO:0008377	\N	"quantification of some aspect of mosquito bites" []	EFO:0008377	"quanitifcation of the itch intensity of a mosquito bite reaction, generally through the use of a standardised questionnaire" []	211747	\N	\N	EFO	1	EFO	mosquito bite measurement	mosquito bite reaction itch intensity measurement
EFO:0001444	EFO:0008376	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008377	"quanitifcation of the itch intensity of a mosquito bite reaction, generally through the use of a standardised questionnaire" []	565018	\N	\N	EFO	2	EFO	measurement	mosquito bite reaction itch intensity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008377	"quanitifcation of the itch intensity of a mosquito bite reaction, generally through the use of a standardised questionnaire" []	1146194	\N	\N	EFO	3	EFO	information entity	mosquito bite reaction itch intensity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008377	"quanitifcation of the itch intensity of a mosquito bite reaction, generally through the use of a standardised questionnaire" []	2028598	\N	\N	EFO	4	EFO	experimental factor	mosquito bite reaction itch intensity measurement
EFO:0008378	\N	\N	"quantification of the size of a mosquito bite reaction, generally through the use of a standardised questionnaire" []	EFO:0008378	"quantification of the size of a mosquito bite reaction, generally through the use of a standardised questionnaire" []	69612	\N	\N	EFO	0	EFO	mosquito bite reaction size measurement	mosquito bite reaction size measurement
EFO:0008376	EFO:0008378	\N	"quantification of some aspect of mosquito bites" []	EFO:0008378	"quantification of the size of a mosquito bite reaction, generally through the use of a standardised questionnaire" []	211748	\N	\N	EFO	1	EFO	mosquito bite measurement	mosquito bite reaction size measurement
EFO:0001444	EFO:0008376	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008378	"quantification of the size of a mosquito bite reaction, generally through the use of a standardised questionnaire" []	565019	\N	\N	EFO	2	EFO	measurement	mosquito bite reaction size measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008378	"quantification of the size of a mosquito bite reaction, generally through the use of a standardised questionnaire" []	1146195	\N	\N	EFO	3	EFO	information entity	mosquito bite reaction size measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008378	"quantification of the size of a mosquito bite reaction, generally through the use of a standardised questionnaire" []	2028599	\N	\N	EFO	4	EFO	experimental factor	mosquito bite reaction size measurement
EFO:0008379	\N	\N	"quantification of P wave terminal force, the product of the duration and the amplitude of the terminal negative part of the P-wave" []	EFO:0008379	"quantification of P wave terminal force, the product of the duration and the amplitude of the terminal negative part of the P-wave" []	69613	\N	\N	EFO	0	EFO	P wave terminal force measurement	P wave terminal force measurement
EFO:0004327	EFO:0008379	\N	"Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY." []	EFO:0008379	"quantification of P wave terminal force, the product of the duration and the amplitude of the terminal negative part of the P-wave" []	211749	\N	\N	EFO	1	EFO	electrocardiography	P wave terminal force measurement
EFO:0004311	EFO:0004327	\N	"A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis" []	EFO:0008379	"quantification of P wave terminal force, the product of the duration and the amplitude of the terminal negative part of the P-wave" []	565020	\N	\N	EFO	2	EFO	heart function measurement	P wave terminal force measurement
EFO:0005278	EFO:0004311	\N	"cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses" []	EFO:0008379	"quantification of P wave terminal force, the product of the duration and the amplitude of the terminal negative part of the P-wave" []	1146196	\N	\N	EFO	3	EFO	cardiovascular disease biomarker measurement	P wave terminal force measurement
EFO:0004298	EFO:0005278	\N	"A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used  in the process of disease diagnosis in human patients." []	EFO:0008379	"quantification of P wave terminal force, the product of the duration and the amplitude of the terminal negative part of the P-wave" []	2028600	\N	\N	EFO	4	EFO	cardiovascular measurement	P wave terminal force measurement
EFO:0001444	EFO:0004298	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008379	"quantification of P wave terminal force, the product of the duration and the amplitude of the terminal negative part of the P-wave" []	3179769	\N	\N	EFO	5	EFO	measurement	P wave terminal force measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008379	"quantification of P wave terminal force, the product of the duration and the amplitude of the terminal negative part of the P-wave" []	4388792	\N	\N	EFO	6	EFO	information entity	P wave terminal force measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008379	"quantification of P wave terminal force, the product of the duration and the amplitude of the terminal negative part of the P-wave" []	5408989	\N	\N	EFO	7	EFO	experimental factor	P wave terminal force measurement
EFO:0008380	\N	\N	"quantification of an individual's perceived unattractiveness to mosquitos, generally through the use of a standardised questionnaire" []	EFO:0008380	"quantification of an individual's perceived unattractiveness to mosquitos, generally through the use of a standardised questionnaire" []	69614	\N	\N	EFO	0	EFO	perceived unattractiveness to mosquitos measurement	perceived unattractiveness to mosquitos measurement
EFO:0008376	EFO:0008380	\N	"quantification of some aspect of mosquito bites" []	EFO:0008380	"quantification of an individual's perceived unattractiveness to mosquitos, generally through the use of a standardised questionnaire" []	211750	\N	\N	EFO	1	EFO	mosquito bite measurement	perceived unattractiveness to mosquitos measurement
EFO:0001444	EFO:0008376	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008380	"quantification of an individual's perceived unattractiveness to mosquitos, generally through the use of a standardised questionnaire" []	565021	\N	\N	EFO	2	EFO	measurement	perceived unattractiveness to mosquitos measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008380	"quantification of an individual's perceived unattractiveness to mosquitos, generally through the use of a standardised questionnaire" []	1146197	\N	\N	EFO	3	EFO	information entity	perceived unattractiveness to mosquitos measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008380	"quantification of an individual's perceived unattractiveness to mosquitos, generally through the use of a standardised questionnaire" []	2028601	\N	\N	EFO	4	EFO	experimental factor	perceived unattractiveness to mosquitos measurement
EFO:0008381	\N	\N	"quantification of the surface area of the cerebral cortex, the largest region of the mammalian brain" []	EFO:0008381	"quantification of the surface area of the cerebral cortex, the largest region of the mammalian brain" []	69615	\N	\N	EFO	0	EFO	total cortical area measurement	total cortical area measurement
EFO:0004464	EFO:0008381	\N	"" []	EFO:0008381	"quantification of the surface area of the cerebral cortex, the largest region of the mammalian brain" []	211751	\N	\N	EFO	1	EFO	brain measurement	total cortical area measurement
EFO:0001444	EFO:0004464	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008381	"quantification of the surface area of the cerebral cortex, the largest region of the mammalian brain" []	565022	\N	\N	EFO	2	EFO	measurement	total cortical area measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008381	"quantification of the surface area of the cerebral cortex, the largest region of the mammalian brain" []	1146198	\N	\N	EFO	3	EFO	information entity	total cortical area measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008381	"quantification of the surface area of the cerebral cortex, the largest region of the mammalian brain" []	2028602	\N	\N	EFO	4	EFO	experimental factor	total cortical area measurement
EFO:0008382	\N	\N	"quantification of some aspect of TP53 mutation, such as the number of accummulated mutations, determined either through immunohistochemistry or DNA sequencing" []	EFO:0008382	"quantification of some aspect of TP53 mutation, such as the number of accummulated mutations, determined either through immunohistochemistry or DNA sequencing" []	69616	\N	\N	EFO	0	EFO	TP53 mutation status	TP53 mutation status
EFO:0001444	EFO:0008382	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008382	"quantification of some aspect of TP53 mutation, such as the number of accummulated mutations, determined either through immunohistochemistry or DNA sequencing" []	211752	\N	\N	EFO	1	EFO	measurement	TP53 mutation status
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008382	"quantification of some aspect of TP53 mutation, such as the number of accummulated mutations, determined either through immunohistochemistry or DNA sequencing" []	565023	\N	\N	EFO	2	EFO	information entity	TP53 mutation status
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008382	"quantification of some aspect of TP53 mutation, such as the number of accummulated mutations, determined either through immunohistochemistry or DNA sequencing" []	1146199	\N	\N	EFO	3	EFO	experimental factor	TP53 mutation status
EFO:0008383	\N	\N	"quantification of some treatment outcome" []	EFO:0008383	"quantification of some treatment outcome" []	69617	\N	\N	EFO	0	EFO	treatment outcome measurement	treatment outcome measurement
EFO:0001444	EFO:0008383	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008383	"quantification of some treatment outcome" []	211753	\N	\N	EFO	1	EFO	measurement	treatment outcome measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008383	"quantification of some treatment outcome" []	565024	\N	\N	EFO	2	EFO	information entity	treatment outcome measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008383	"quantification of some treatment outcome" []	1146200	\N	\N	EFO	3	EFO	experimental factor	treatment outcome measurement
EFO:0008384	\N	\N	"quantification of the amount of tumor necrosis factor receptor II in a sample" []	EFO:0008384	"quantification of the amount of tumor necrosis factor receptor II in a sample" []	69618	\N	\N	EFO	0	EFO	tumor necrosis factor receptor II measurement	tumor necrosis factor receptor II measurement
EFO:0007937	EFO:0008384	\N	"quantification of the levels of some protein in a blood sample" []	EFO:0008384	"quantification of the amount of tumor necrosis factor receptor II in a sample" []	211754	\N	\N	EFO	1	EFO	blood protein measurement	tumor necrosis factor receptor II measurement
EFO:0004747	EFO:0007937	\N	"This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term." []	EFO:0008384	"quantification of the amount of tumor necrosis factor receptor II in a sample" []	565025	\N	\N	EFO	2	EFO	protein measurement	tumor necrosis factor receptor II measurement
EFO:0001444	EFO:0004747	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008384	"quantification of the amount of tumor necrosis factor receptor II in a sample" []	1146201	\N	\N	EFO	3	EFO	measurement	tumor necrosis factor receptor II measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008384	"quantification of the amount of tumor necrosis factor receptor II in a sample" []	2028603	\N	\N	EFO	4	EFO	information entity	tumor necrosis factor receptor II measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008384	"quantification of the amount of tumor necrosis factor receptor II in a sample" []	3179770	\N	\N	EFO	5	EFO	experimental factor	tumor necrosis factor receptor II measurement
EFO:0008385	\N	\N	"quantification of visual acuity" []	EFO:0008385	"quantification of visual acuity" []	69619	\N	\N	EFO	0	EFO	visual acuity measurement	visual acuity measurement
EFO:0004731	EFO:0008385	\N	"Is a quantification of some eye structure or property of an eye structure, such as corneal thickness." []	EFO:0008385	"quantification of visual acuity" []	211755	\N	\N	EFO	1	EFO	eye measurement	visual acuity measurement
EFO:0001444	EFO:0004731	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	EFO:0008385	"quantification of visual acuity" []	565026	\N	\N	EFO	2	EFO	measurement	visual acuity measurement
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EFO:0008385	"quantification of visual acuity" []	1146202	\N	\N	EFO	3	EFO	information entity	visual acuity measurement
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:0008385	"quantification of visual acuity" []	2028604	\N	\N	EFO	4	EFO	experimental factor	visual acuity measurement
EFO:1000003	\N	\N	"A deficiency of the essential metal Zinc; an essential cofactor for many enzymes. Zinc deficiency is caused by a lack of zinc in the diet, loss of zinc after absorption, for example through loss through burns, inability to absorb Zinc, or increased loss through exercise. " []	EFO:1000003	"A deficiency of the essential metal Zinc; an essential cofactor for many enzymes. Zinc deficiency is caused by a lack of zinc in the diet, loss of zinc after absorption, for example through loss through burns, inability to absorb Zinc, or increased loss through exercise. " []	69620	\N	\N	EFO	0	EFO	Zinc deficiency	Zinc deficiency
HP:0008277	\N	\N	"An abnormality of zinc ion homeostasis." [HPO:probinson]	EFO:1000003	"A deficiency of the essential metal Zinc; an essential cofactor for many enzymes. Zinc deficiency is caused by a lack of zinc in the diet, loss of zinc after absorption, for example through loss through burns, inability to absorb Zinc, or increased loss through exercise. " []	194941	\N	\N	EFO	0	EFO	Abnormality of zinc homeostasis	Zinc deficiency
EFO:1000012	\N	\N	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	69621	\N	\N	EFO	0	EFO	Rienhoff syndrome	Rienhoff syndrome
Orphanet:60030	EFO:1000012	\N	"" []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	211756	\N	\N	EFO	1	EFO	Loeys-Dietz syndrome	Rienhoff syndrome
Orphanet:284993	Orphanet:60030	\N	"" []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	565027	\N	\N	EFO	2	EFO	Marfan and Marfan-related disorder	Rienhoff syndrome
Orphanet:285014	Orphanet:60030	\N	"" []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	565028	\N	\N	EFO	2	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Rienhoff syndrome
Orphanet:271870	Orphanet:284993	\N	"" []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	1146203	\N	\N	EFO	3	EFO	Rare genetic systemic or rheumatologic disease	Rienhoff syndrome
Orphanet:233655	Orphanet:285014	\N	"" []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	1146204	\N	\N	EFO	3	EFO	Rare genetic vascular disease	Rienhoff syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	2028605	\N	\N	EFO	4	EFO	genetic disorder	Rienhoff syndrome
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	2028606	\N	\N	EFO	4	EFO	genetic disorder	Rienhoff syndrome
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	2028607	\N	\N	EFO	4	EFO	vascular disease	Rienhoff syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	3179771	\N	\N	EFO	5	EFO	disease	Rienhoff syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	3179772	\N	\N	EFO	5	EFO	cardiovascular disease	Rienhoff syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	5408991	\N	\N	EFO	7	EFO	disposition	Rienhoff syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	4388794	\N	\N	EFO	6	EFO	disease	Rienhoff syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	5996632	\N	\N	EFO	8	EFO	material property	Rienhoff syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000012	"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." []	6550384	\N	\N	EFO	9	EFO	experimental factor	Rienhoff syndrome
EFO:1000013	\N	\N	"a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries)." []	EFO:1000013	"a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries)." []	69622	\N	\N	EFO	0	EFO	Prinzmetal's angina	Prinzmetal's angina
EFO:0000319	EFO:1000013	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000013	"a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries)." []	211757	\N	\N	EFO	1	EFO	cardiovascular disease	Prinzmetal's angina
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000013	"a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries)." []	565029	\N	\N	EFO	2	EFO	disease	Prinzmetal's angina
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000013	"a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries)." []	1146205	\N	\N	EFO	3	EFO	disposition	Prinzmetal's angina
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000013	"a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries)." []	2028608	\N	\N	EFO	4	EFO	material property	Prinzmetal's angina
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000013	"a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries)." []	3179773	\N	\N	EFO	5	EFO	experimental factor	Prinzmetal's angina
EFO:1000014	\N	\N	"An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" []	EFO:1000014	"An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" []	69623	\N	\N	EFO	0	EFO	acidosis	acidosis
EFO:0000319	EFO:1000014	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000014	"An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" []	211758	\N	\N	EFO	1	EFO	cardiovascular disease	acidosis
EFO:0005803	EFO:1000014	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000014	"An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" []	211759	\N	\N	EFO	1	EFO	hematological system disease	acidosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000014	"An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" []	565030	\N	\N	EFO	2	EFO	disease	acidosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000014	"An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" []	565031	\N	\N	EFO	2	EFO	disease	acidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000014	"An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" []	1146206	\N	\N	EFO	3	EFO	disposition	acidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000014	"An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" []	2028609	\N	\N	EFO	4	EFO	material property	acidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000014	"An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" []	3179774	\N	\N	EFO	5	EFO	experimental factor	acidosis
EFO:1000015	\N	\N	"Surgically-correctable form of primary (hyper) aldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion and moderate to severe hypertension secondary to a benign tumor of the adrenal gland." []	EFO:1000015	"Surgically-correctable form of primary (hyper) aldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion and moderate to severe hypertension secondary to a benign tumor of the adrenal gland." []	69624	\N	\N	EFO	0	EFO	aldosterone-producing adenoma	aldosterone-producing adenoma
EFO:0000232	EFO:1000015	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000015	"Surgically-correctable form of primary (hyper) aldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion and moderate to severe hypertension secondary to a benign tumor of the adrenal gland." []	211760	\N	\N	EFO	1	EFO	adenoma	aldosterone-producing adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000015	"Surgically-correctable form of primary (hyper) aldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion and moderate to severe hypertension secondary to a benign tumor of the adrenal gland." []	565032	\N	\N	EFO	2	EFO	benign neoplasm	aldosterone-producing adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000015	"Surgically-correctable form of primary (hyper) aldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion and moderate to severe hypertension secondary to a benign tumor of the adrenal gland." []	1146207	\N	\N	EFO	3	EFO	neoplasm	aldosterone-producing adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000015	"Surgically-correctable form of primary (hyper) aldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion and moderate to severe hypertension secondary to a benign tumor of the adrenal gland." []	2028610	\N	\N	EFO	4	EFO	disease	aldosterone-producing adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000015	"Surgically-correctable form of primary (hyper) aldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion and moderate to severe hypertension secondary to a benign tumor of the adrenal gland." []	3179775	\N	\N	EFO	5	EFO	disposition	aldosterone-producing adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000015	"Surgically-correctable form of primary (hyper) aldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion and moderate to severe hypertension secondary to a benign tumor of the adrenal gland." []	4388795	\N	\N	EFO	6	EFO	material property	aldosterone-producing adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000015	"Surgically-correctable form of primary (hyper) aldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion and moderate to severe hypertension secondary to a benign tumor of the adrenal gland." []	5408992	\N	\N	EFO	7	EFO	experimental factor	aldosterone-producing adenoma
EFO:1000016	\N	\N	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	69625	\N	\N	EFO	0	EFO	anaplastic lung carcinoma	anaplastic lung carcinoma
EFO:0003060	EFO:1000016	\N	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	211761	\N	\N	EFO	1	EFO	non-small cell lung carcinoma	anaplastic lung carcinoma
EFO:0001071	EFO:0003060	\N	"Tumors or cancer of the LUNG." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	565033	\N	\N	EFO	2	EFO	lung carcinoma	anaplastic lung carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	1146208	\N	\N	EFO	3	EFO	carcinoma	anaplastic lung carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	1146209	\N	\N	EFO	3	EFO	lung disease	anaplastic lung carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	1146210	\N	\N	EFO	3	EFO	respiratory system neoplasm	anaplastic lung carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	2028611	\N	\N	EFO	4	EFO	cancer	anaplastic lung carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	2028612	\N	\N	EFO	4	EFO	epithelial neoplasm	anaplastic lung carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	2028613	\N	\N	EFO	4	EFO	respiratory system disease	anaplastic lung carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	2028614	\N	\N	EFO	4	EFO	neoplasm	anaplastic lung carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	2028615	\N	\N	EFO	4	EFO	respiratory system disease	anaplastic lung carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	3179776	\N	\N	EFO	5	EFO	neoplasm	anaplastic lung carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	3179777	\N	\N	EFO	5	EFO	neoplasm	anaplastic lung carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	3179778	\N	\N	EFO	5	EFO	disease	anaplastic lung carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	4388796	\N	\N	EFO	6	EFO	disease	anaplastic lung carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	5181074	\N	\N	EFO	7	EFO	disposition	anaplastic lung carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	5996633	\N	\N	EFO	8	EFO	material property	anaplastic lung carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000016	"A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation" []	6550385	\N	\N	EFO	9	EFO	experimental factor	anaplastic lung carcinoma
EFO:1000017	\N	\N	"An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop." []	EFO:1000017	"An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop." []	69626	\N	\N	EFO	0	EFO	autosomal recessive disease	autosomal recessive disease
EFO:0000508	EFO:1000017	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000017	"An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop." []	211762	\N	\N	EFO	1	EFO	genetic disorder	autosomal recessive disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000017	"An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop." []	565034	\N	\N	EFO	2	EFO	disease	autosomal recessive disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000017	"An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop." []	1146211	\N	\N	EFO	3	EFO	disposition	autosomal recessive disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000017	"An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop." []	2028616	\N	\N	EFO	4	EFO	material property	autosomal recessive disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000017	"An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop." []	3179780	\N	\N	EFO	5	EFO	experimental factor	autosomal recessive disease
EFO:1000018	\N	\N	"A disorder affecting the urinary bladder" []	EFO:1000018	"A disorder affecting the urinary bladder" []	69627	\N	\N	EFO	0	EFO	bladder disease	bladder disease
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000018	"A disorder affecting the urinary bladder" []	211763	\N	\N	EFO	1	EFO	disease	bladder disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000018	"A disorder affecting the urinary bladder" []	565035	\N	\N	EFO	2	EFO	disposition	bladder disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000018	"A disorder affecting the urinary bladder" []	1146212	\N	\N	EFO	3	EFO	material property	bladder disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000018	"A disorder affecting the urinary bladder" []	2028617	\N	\N	EFO	4	EFO	experimental factor	bladder disease
EFO:1000019	\N	\N	"a rare form of soft tissue cancer occuring in the breast (usually occurs near to the joints of the arm, neck or leg. It is one of the soft tissue sarcomas. It is one of the rarest forms of soft tissue cancer in the world.)" []	EFO:1000019	"a rare form of soft tissue cancer occuring in the breast (usually occurs near to the joints of the arm, neck or leg. It is one of the soft tissue sarcomas. It is one of the rarest forms of soft tissue cancer in the world.)" []	69628	\N	\N	EFO	0	EFO	breast synovial sarcoma	breast synovial sarcoma
EFO:0001376	EFO:1000019	\N	"A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11).  It can occur at any age, but mainly affects young adults, more commonly males.  Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee.  Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components).  Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes." []	EFO:1000019	"a rare form of soft tissue cancer occuring in the breast (usually occurs near to the joints of the arm, neck or leg. It is one of the soft tissue sarcomas. It is one of the rarest forms of soft tissue cancer in the world.)" []	211764	\N	\N	EFO	1	EFO	synovial sarcoma	breast synovial sarcoma
EFO:0000691	EFO:0001376	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000019	"a rare form of soft tissue cancer occuring in the breast (usually occurs near to the joints of the arm, neck or leg. It is one of the soft tissue sarcomas. It is one of the rarest forms of soft tissue cancer in the world.)" []	565036	\N	\N	EFO	2	EFO	sarcoma	breast synovial sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000019	"a rare form of soft tissue cancer occuring in the breast (usually occurs near to the joints of the arm, neck or leg. It is one of the soft tissue sarcomas. It is one of the rarest forms of soft tissue cancer in the world.)" []	1146213	\N	\N	EFO	3	EFO	cancer	breast synovial sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000019	"a rare form of soft tissue cancer occuring in the breast (usually occurs near to the joints of the arm, neck or leg. It is one of the soft tissue sarcomas. It is one of the rarest forms of soft tissue cancer in the world.)" []	2028618	\N	\N	EFO	4	EFO	neoplasm	breast synovial sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000019	"a rare form of soft tissue cancer occuring in the breast (usually occurs near to the joints of the arm, neck or leg. It is one of the soft tissue sarcomas. It is one of the rarest forms of soft tissue cancer in the world.)" []	3179781	\N	\N	EFO	5	EFO	disease	breast synovial sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000019	"a rare form of soft tissue cancer occuring in the breast (usually occurs near to the joints of the arm, neck or leg. It is one of the soft tissue sarcomas. It is one of the rarest forms of soft tissue cancer in the world.)" []	4388798	\N	\N	EFO	6	EFO	disposition	breast synovial sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000019	"a rare form of soft tissue cancer occuring in the breast (usually occurs near to the joints of the arm, neck or leg. It is one of the soft tissue sarcomas. It is one of the rarest forms of soft tissue cancer in the world.)" []	5408994	\N	\N	EFO	7	EFO	material property	breast synovial sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000019	"a rare form of soft tissue cancer occuring in the breast (usually occurs near to the joints of the arm, neck or leg. It is one of the soft tissue sarcomas. It is one of the rarest forms of soft tissue cancer in the world.)" []	6147544	\N	\N	EFO	8	EFO	experimental factor	breast synovial sarcoma
EFO:1000020	\N	\N	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	69629	\N	\N	EFO	0	EFO	cecum adenocarcinoma	cecum adenocarcinoma
EFO:0000365	EFO:1000020	\N	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	211765	\N	\N	EFO	1	EFO	colorectal adenocarcinoma	cecum adenocarcinoma
EFO:0000228	EFO:0000365	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	565037	\N	\N	EFO	2	EFO	adenocarcinoma	cecum adenocarcinoma
EFO:0004288	EFO:0000365	\N	"Tumors or cancer of the COLON." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	565038	\N	\N	EFO	2	EFO	colonic neoplasm	cecum adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	1146214	\N	\N	EFO	3	EFO	carcinoma	cecum adenocarcinoma
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	1146215	\N	\N	EFO	3	EFO	digestive system disease	cecum adenocarcinoma
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	1146216	\N	\N	EFO	3	EFO	neoplasm	cecum adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	2028619	\N	\N	EFO	4	EFO	cancer	cecum adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	2028620	\N	\N	EFO	4	EFO	epithelial neoplasm	cecum adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	2028621	\N	\N	EFO	4	EFO	disease	cecum adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	4388799	\N	\N	EFO	6	EFO	disease	cecum adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	3179782	\N	\N	EFO	5	EFO	neoplasm	cecum adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	3179783	\N	\N	EFO	5	EFO	neoplasm	cecum adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	5059382	\N	\N	EFO	7	EFO	disposition	cecum adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	5876551	\N	\N	EFO	8	EFO	material property	cecum adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000020	"An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	6469831	\N	\N	EFO	9	EFO	experimental factor	cecum adenocarcinoma
EFO:1000021	\N	\N	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	69630	\N	\N	EFO	0	EFO	cecum carcinoma	cecum carcinoma
EFO:0004288	EFO:1000021	\N	"Tumors or cancer of the COLON." []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	211766	\N	\N	EFO	1	EFO	colonic neoplasm	cecum carcinoma
EFO:0005842	EFO:1000021	\N	"A large intestine cancer that is located in the colon and/or located in the rectum." []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	211767	\N	\N	EFO	1	EFO	colorectal cancer	cecum carcinoma
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	565039	\N	\N	EFO	2	EFO	digestive system disease	cecum carcinoma
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	565040	\N	\N	EFO	2	EFO	neoplasm	cecum carcinoma
EFO:0000311	EFO:0005842	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	565041	\N	\N	EFO	2	EFO	cancer	cecum carcinoma
EFO:0000405	EFO:0005842	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	565042	\N	\N	EFO	2	EFO	digestive system disease	cecum carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	1146217	\N	\N	EFO	3	EFO	disease	cecum carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	2028624	\N	\N	EFO	4	EFO	disease	cecum carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	1146219	\N	\N	EFO	3	EFO	neoplasm	cecum carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	2999917	\N	\N	EFO	5	EFO	disposition	cecum carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	4132795	\N	\N	EFO	6	EFO	material property	cecum carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000021	"A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas" []	5181075	\N	\N	EFO	7	EFO	experimental factor	cecum carcinoma
EFO:1000023	\N	\N	"Recurrent infections of the urinary bladder" []	EFO:1000023	"Recurrent infections of the urinary bladder" []	69631	\N	\N	EFO	0	EFO	chronic cystitis	chronic cystitis
EFO:1000025	EFO:1000023	\N	"An acute or chronic inflammatory process affecting the bladder." []	EFO:1000023	"Recurrent infections of the urinary bladder" []	211768	\N	\N	EFO	1	EFO	cystitis	chronic cystitis
EFO:1000018	EFO:1000025	\N	"A disorder affecting the urinary bladder" []	EFO:1000023	"Recurrent infections of the urinary bladder" []	565043	\N	\N	EFO	2	EFO	bladder disease	chronic cystitis
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000023	"Recurrent infections of the urinary bladder" []	1146220	\N	\N	EFO	3	EFO	disease	chronic cystitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000023	"Recurrent infections of the urinary bladder" []	2028625	\N	\N	EFO	4	EFO	disposition	chronic cystitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000023	"Recurrent infections of the urinary bladder" []	3179786	\N	\N	EFO	5	EFO	material property	chronic cystitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000023	"Recurrent infections of the urinary bladder" []	4388802	\N	\N	EFO	6	EFO	experimental factor	chronic cystitis
EFO:1000024	\N	\N	"Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" []	EFO:1000024	"Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" []	69632	\N	\N	EFO	0	EFO	chronic rhinosinusitis	chronic rhinosinusitis
EFO:0000684	EFO:1000024	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000024	"Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" []	211769	\N	\N	EFO	1	EFO	respiratory system disease	chronic rhinosinusitis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000024	"Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" []	565044	\N	\N	EFO	2	EFO	disease	chronic rhinosinusitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000024	"Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" []	1146221	\N	\N	EFO	3	EFO	disposition	chronic rhinosinusitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000024	"Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" []	2028626	\N	\N	EFO	4	EFO	material property	chronic rhinosinusitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000024	"Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" []	3179787	\N	\N	EFO	5	EFO	experimental factor	chronic rhinosinusitis
EFO:1000025	\N	\N	"An acute or chronic inflammatory process affecting the bladder." []	EFO:1000025	"An acute or chronic inflammatory process affecting the bladder." []	69633	\N	\N	EFO	0	EFO	cystitis	cystitis
EFO:1000018	EFO:1000025	\N	"A disorder affecting the urinary bladder" []	EFO:1000025	"An acute or chronic inflammatory process affecting the bladder." []	211770	\N	\N	EFO	1	EFO	bladder disease	cystitis
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000025	"An acute or chronic inflammatory process affecting the bladder." []	565045	\N	\N	EFO	2	EFO	disease	cystitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000025	"An acute or chronic inflammatory process affecting the bladder." []	1146222	\N	\N	EFO	3	EFO	disposition	cystitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000025	"An acute or chronic inflammatory process affecting the bladder." []	2028627	\N	\N	EFO	4	EFO	material property	cystitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000025	"An acute or chronic inflammatory process affecting the bladder." []	3179788	\N	\N	EFO	5	EFO	experimental factor	cystitis
EFO:1000026	\N	\N	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	69634	\N	\N	EFO	0	EFO	diffuse intrinsic pontine glioma	diffuse intrinsic pontine glioma
EFO:0005543	EFO:1000026	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	211771	\N	\N	EFO	1	EFO	glioma	diffuse intrinsic pontine glioma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	565046	\N	\N	EFO	2	EFO	central nervous system cancer	diffuse intrinsic pontine glioma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	565047	\N	\N	EFO	2	EFO	brain neoplasm	diffuse intrinsic pontine glioma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	1146223	\N	\N	EFO	3	EFO	cancer	diffuse intrinsic pontine glioma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	1146224	\N	\N	EFO	3	EFO	nervous system disease	diffuse intrinsic pontine glioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	1146225	\N	\N	EFO	3	EFO	neoplasm	diffuse intrinsic pontine glioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	1146226	\N	\N	EFO	3	EFO	brain disease	diffuse intrinsic pontine glioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	2028628	\N	\N	EFO	4	EFO	neoplasm	diffuse intrinsic pontine glioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	3179791	\N	\N	EFO	5	EFO	disease	diffuse intrinsic pontine glioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	3179789	\N	\N	EFO	5	EFO	disease	diffuse intrinsic pontine glioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	2028631	\N	\N	EFO	4	EFO	nervous system disease	diffuse intrinsic pontine glioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	4132796	\N	\N	EFO	6	EFO	disposition	diffuse intrinsic pontine glioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	5181076	\N	\N	EFO	7	EFO	material property	diffuse intrinsic pontine glioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000026	"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" []	5996634	\N	\N	EFO	8	EFO	experimental factor	diffuse intrinsic pontine glioma
EFO:1000027	\N	\N	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	69635	\N	\N	EFO	0	EFO	ependymal neoplasm	ependymal neoplasm
EFO:0005543	EFO:1000027	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	211772	\N	\N	EFO	1	EFO	glioma	ependymal neoplasm
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	565048	\N	\N	EFO	2	EFO	central nervous system cancer	ependymal neoplasm
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	565049	\N	\N	EFO	2	EFO	brain neoplasm	ependymal neoplasm
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	1146227	\N	\N	EFO	3	EFO	cancer	ependymal neoplasm
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	1146228	\N	\N	EFO	3	EFO	nervous system disease	ependymal neoplasm
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	1146229	\N	\N	EFO	3	EFO	neoplasm	ependymal neoplasm
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	1146230	\N	\N	EFO	3	EFO	brain disease	ependymal neoplasm
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	2028632	\N	\N	EFO	4	EFO	neoplasm	ependymal neoplasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	3179794	\N	\N	EFO	5	EFO	disease	ependymal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	3179792	\N	\N	EFO	5	EFO	disease	ependymal neoplasm
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	2028635	\N	\N	EFO	4	EFO	nervous system disease	ependymal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	4132797	\N	\N	EFO	6	EFO	disposition	ependymal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	5181077	\N	\N	EFO	7	EFO	material property	ependymal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000027	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	5996635	\N	\N	EFO	8	EFO	experimental factor	ependymal neoplasm
EFO:1000028	\N	\N	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	69636	\N	\N	EFO	0	EFO	ependymoma	ependymoma
EFO:1000027	EFO:1000028	\N	"A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	211773	\N	\N	EFO	1	EFO	ependymal neoplasm	ependymoma
EFO:0005543	EFO:1000027	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	565050	\N	\N	EFO	2	EFO	glioma	ependymoma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	1146231	\N	\N	EFO	3	EFO	central nervous system cancer	ependymoma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	1146232	\N	\N	EFO	3	EFO	brain neoplasm	ependymoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	2028636	\N	\N	EFO	4	EFO	cancer	ependymoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	2028637	\N	\N	EFO	4	EFO	nervous system disease	ependymoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	2028638	\N	\N	EFO	4	EFO	neoplasm	ependymoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	2028639	\N	\N	EFO	4	EFO	brain disease	ependymoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	3179795	\N	\N	EFO	5	EFO	neoplasm	ependymoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	4388807	\N	\N	EFO	6	EFO	disease	ependymoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	4388805	\N	\N	EFO	6	EFO	disease	ependymoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	3179798	\N	\N	EFO	5	EFO	nervous system disease	ependymoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	5181078	\N	\N	EFO	7	EFO	disposition	ependymoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	5996636	\N	\N	EFO	8	EFO	material property	ependymoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000028	"A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes." []	6550386	\N	\N	EFO	9	EFO	experimental factor	ependymoma
EFO:1000029	\N	\N	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	69637	\N	\N	EFO	0	EFO	gastric adenosquamous carcinoma	gastric adenosquamous carcinoma
EFO:0000178	EFO:1000029	\N	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	211774	\N	\N	EFO	1	EFO	gastric carcinoma	gastric adenosquamous carcinoma
EFO:0000313	EFO:0000178	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	565051	\N	\N	EFO	2	EFO	carcinoma	gastric adenosquamous carcinoma
EFO:0003897	EFO:0000178	\N	"Tumors or cancer of the STOMACH." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	565052	\N	\N	EFO	2	EFO	stomach neoplasm	gastric adenosquamous carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	1146233	\N	\N	EFO	3	EFO	cancer	gastric adenosquamous carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	1146234	\N	\N	EFO	3	EFO	epithelial neoplasm	gastric adenosquamous carcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	1146235	\N	\N	EFO	3	EFO	digestive system disease	gastric adenosquamous carcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	1146236	\N	\N	EFO	3	EFO	neoplasm	gastric adenosquamous carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	2028640	\N	\N	EFO	4	EFO	neoplasm	gastric adenosquamous carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	2028641	\N	\N	EFO	4	EFO	neoplasm	gastric adenosquamous carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	2028642	\N	\N	EFO	4	EFO	disease	gastric adenosquamous carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	3179799	\N	\N	EFO	5	EFO	disease	gastric adenosquamous carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	4132798	\N	\N	EFO	6	EFO	disposition	gastric adenosquamous carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	5181079	\N	\N	EFO	7	EFO	material property	gastric adenosquamous carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000029	"A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation" []	5996637	\N	\N	EFO	8	EFO	experimental factor	gastric adenosquamous carcinoma
EFO:1000030	\N	\N	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	69638	\N	\N	EFO	0	EFO	gastric tubular adenocarcinoma	gastric tubular adenocarcinoma
EFO:0000503	EFO:1000030	\N	"curative" []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	211775	\N	\N	EFO	1	EFO	gastric adenocarcinoma	gastric tubular adenocarcinoma
EFO:0006500	EFO:1000030	\N	"An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	211776	\N	\N	EFO	1	EFO	tubular adenocarcinoma	gastric tubular adenocarcinoma
EFO:0000228	EFO:0000503	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	565053	\N	\N	EFO	2	EFO	adenocarcinoma	gastric tubular adenocarcinoma
EFO:0003897	EFO:0000503	\N	"Tumors or cancer of the STOMACH." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	565054	\N	\N	EFO	2	EFO	stomach neoplasm	gastric tubular adenocarcinoma
EFO:0000228	EFO:0006500	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	565055	\N	\N	EFO	2	EFO	adenocarcinoma	gastric tubular adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	1146237	\N	\N	EFO	3	EFO	carcinoma	gastric tubular adenocarcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	1146238	\N	\N	EFO	3	EFO	digestive system disease	gastric tubular adenocarcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	1146239	\N	\N	EFO	3	EFO	neoplasm	gastric tubular adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	2028644	\N	\N	EFO	4	EFO	cancer	gastric tubular adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	2028645	\N	\N	EFO	4	EFO	epithelial neoplasm	gastric tubular adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	2028646	\N	\N	EFO	4	EFO	disease	gastric tubular adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	4388809	\N	\N	EFO	6	EFO	disease	gastric tubular adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	3179801	\N	\N	EFO	5	EFO	neoplasm	gastric tubular adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	3179802	\N	\N	EFO	5	EFO	neoplasm	gastric tubular adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	5059383	\N	\N	EFO	7	EFO	disposition	gastric tubular adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	5876552	\N	\N	EFO	8	EFO	material property	gastric tubular adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000030	"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." []	6469832	\N	\N	EFO	9	EFO	experimental factor	gastric tubular adenocarcinoma
EFO:1000032	\N	\N	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	EFO:1000032	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	69639	\N	\N	EFO	0	EFO	granulosa cell tumor	granulosa cell tumor
EFO:1000052	EFO:1000032	\N	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	EFO:1000032	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	211777	\N	\N	EFO	1	EFO	sex cord-stromal tumor	granulosa cell tumor
EFO:0000512	EFO:1000052	\N	"any diease of the reproductive system" []	EFO:1000032	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	565056	\N	\N	EFO	2	EFO	reproductive system disease	granulosa cell tumor
EFO:0003863	EFO:1000052	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000032	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	565057	\N	\N	EFO	2	EFO	urogenital neoplasm	granulosa cell tumor
EFO:1000051	EFO:1000052	\N	"A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" []	EFO:1000032	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	565058	\N	\N	EFO	2	EFO	reproductive system neoplasm	granulosa cell tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000032	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	1146240	\N	\N	EFO	3	EFO	disease	granulosa cell tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000032	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	1146241	\N	\N	EFO	3	EFO	neoplasm	granulosa cell tumor
EFO:0000616	EFO:1000051	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000032	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	1146242	\N	\N	EFO	3	EFO	neoplasm	granulosa cell tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000032	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	3179805	\N	\N	EFO	5	EFO	disposition	granulosa cell tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000032	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	2028649	\N	\N	EFO	4	EFO	disease	granulosa cell tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000032	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	4132799	\N	\N	EFO	6	EFO	material property	granulosa cell tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000032	"A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." []	5181080	\N	\N	EFO	7	EFO	experimental factor	granulosa cell tumor
EFO:1000034	\N	\N	"It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." []	EFO:1000034	"It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." []	69640	\N	\N	EFO	0	EFO	indeterminate colitis	indeterminate colitis
EFO:0003767	EFO:1000034	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:1000034	"It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." []	211778	\N	\N	EFO	1	EFO	inflammatory bowel disease	indeterminate colitis
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000034	"It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." []	565059	\N	\N	EFO	2	EFO	digestive system disease	indeterminate colitis
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1000034	"It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." []	565060	\N	\N	EFO	2	EFO	autoimmune disease	indeterminate colitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000034	"It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." []	1146243	\N	\N	EFO	3	EFO	disease	indeterminate colitis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000034	"It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." []	1146244	\N	\N	EFO	3	EFO	immune system disease	indeterminate colitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000034	"It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." []	3179807	\N	\N	EFO	5	EFO	disposition	indeterminate colitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000034	"It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." []	2028651	\N	\N	EFO	4	EFO	disease	indeterminate colitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000034	"It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." []	4132800	\N	\N	EFO	6	EFO	material property	indeterminate colitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000034	"It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." []	5181081	\N	\N	EFO	7	EFO	experimental factor	indeterminate colitis
EFO:1000035	\N	\N	"A viral or bacterial infectious process affecting the large intestine" []	EFO:1000035	"A viral or bacterial infectious process affecting the large intestine" []	69641	\N	\N	EFO	0	EFO	infectious colitis	infectious colitis
EFO:0003872	EFO:1000035	\N	"Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." []	EFO:1000035	"A viral or bacterial infectious process affecting the large intestine" []	211779	\N	\N	EFO	1	EFO	colitis	infectious colitis
EFO:0000405	EFO:0003872	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000035	"A viral or bacterial infectious process affecting the large intestine" []	565061	\N	\N	EFO	2	EFO	digestive system disease	infectious colitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000035	"A viral or bacterial infectious process affecting the large intestine" []	1146245	\N	\N	EFO	3	EFO	disease	infectious colitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000035	"A viral or bacterial infectious process affecting the large intestine" []	2028652	\N	\N	EFO	4	EFO	disposition	infectious colitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000035	"A viral or bacterial infectious process affecting the large intestine" []	3179808	\N	\N	EFO	5	EFO	material property	infectious colitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000035	"A viral or bacterial infectious process affecting the large intestine" []	4388813	\N	\N	EFO	6	EFO	experimental factor	infectious colitis
EFO:1000036	\N	\N	"Metabolic disease characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia" []	EFO:1000036	"Metabolic disease characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia" []	69642	\N	\N	EFO	0	EFO	lactic acidosis	lactic acidosis
EFO:0000589	EFO:1000036	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000036	"Metabolic disease characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia" []	211780	\N	\N	EFO	1	EFO	metabolic disease	lactic acidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000036	"Metabolic disease characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia" []	565062	\N	\N	EFO	2	EFO	disease	lactic acidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000036	"Metabolic disease characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia" []	1146246	\N	\N	EFO	3	EFO	disposition	lactic acidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000036	"Metabolic disease characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia" []	2028653	\N	\N	EFO	4	EFO	material property	lactic acidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000036	"Metabolic disease characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia" []	3179809	\N	\N	EFO	5	EFO	experimental factor	lactic acidosis
EFO:1000037	\N	\N	"A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis" []	EFO:1000037	"A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis" []	69643	\N	\N	EFO	0	EFO	lung carcinoid tumor	lung carcinoid tumor
EFO:0003818	EFO:1000037	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000037	"A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis" []	211781	\N	\N	EFO	1	EFO	lung disease	lung carcinoid tumor
EFO:0003853	EFO:1000037	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000037	"A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis" []	211782	\N	\N	EFO	1	EFO	respiratory system neoplasm	lung carcinoid tumor
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000037	"A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis" []	565063	\N	\N	EFO	2	EFO	respiratory system disease	lung carcinoid tumor
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000037	"A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis" []	565064	\N	\N	EFO	2	EFO	neoplasm	lung carcinoid tumor
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000037	"A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis" []	565065	\N	\N	EFO	2	EFO	respiratory system disease	lung carcinoid tumor
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000037	"A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis" []	1146247	\N	\N	EFO	3	EFO	disease	lung carcinoid tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000037	"A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis" []	1146248	\N	\N	EFO	3	EFO	disease	lung carcinoid tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000037	"A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis" []	2028654	\N	\N	EFO	4	EFO	disposition	lung carcinoid tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000037	"A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis" []	3179810	\N	\N	EFO	5	EFO	material property	lung carcinoid tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000037	"A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis" []	4388814	\N	\N	EFO	6	EFO	experimental factor	lung carcinoid tumor
EFO:1000039	\N	\N	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	69644	\N	\N	EFO	0	EFO	meningeal tuberculosis	meningeal tuberculosis
EFO:0005774	EFO:1000039	\N	"A disease affecting the brain or part of the brain." []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	211783	\N	\N	EFO	1	EFO	brain disease	meningeal tuberculosis
Orphanet:3389	EFO:1000039	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	211784	\N	\N	EFO	1	EFO	Tuberculosis	meningeal tuberculosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	565066	\N	\N	EFO	2	EFO	nervous system disease	meningeal tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	565067	\N	\N	EFO	2	EFO	respiratory system disease	meningeal tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	565068	\N	\N	EFO	2	EFO	bacterial disease	meningeal tuberculosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	1146249	\N	\N	EFO	3	EFO	disease	meningeal tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	1146250	\N	\N	EFO	3	EFO	disease	meningeal tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	1146251	\N	\N	EFO	3	EFO	infectious disease	meningeal tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	3179812	\N	\N	EFO	5	EFO	disposition	meningeal tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	2028656	\N	\N	EFO	4	EFO	disease	meningeal tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	4132801	\N	\N	EFO	6	EFO	material property	meningeal tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000039	"A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" []	5181082	\N	\N	EFO	7	EFO	experimental factor	meningeal tuberculosis
EFO:1000040	\N	\N	"A distinct aggressive form of invasive breast cancer with histological evidence of epithelial to mesenchymal transition toward spindle, chondroid, or osseous cell types" []	EFO:1000040	"A distinct aggressive form of invasive breast cancer with histological evidence of epithelial to mesenchymal transition toward spindle, chondroid, or osseous cell types" []	69645	\N	\N	EFO	0	EFO	metaplastic breast carcinoma	metaplastic breast carcinoma
EFO:0000305	EFO:1000040	\N	"Tumors or cancer of the human BREAST." []	EFO:1000040	"A distinct aggressive form of invasive breast cancer with histological evidence of epithelial to mesenchymal transition toward spindle, chondroid, or osseous cell types" []	211785	\N	\N	EFO	1	EFO	breast carcinoma	metaplastic breast carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000040	"A distinct aggressive form of invasive breast cancer with histological evidence of epithelial to mesenchymal transition toward spindle, chondroid, or osseous cell types" []	565069	\N	\N	EFO	2	EFO	carcinoma	metaplastic breast carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000040	"A distinct aggressive form of invasive breast cancer with histological evidence of epithelial to mesenchymal transition toward spindle, chondroid, or osseous cell types" []	1146252	\N	\N	EFO	3	EFO	cancer	metaplastic breast carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000040	"A distinct aggressive form of invasive breast cancer with histological evidence of epithelial to mesenchymal transition toward spindle, chondroid, or osseous cell types" []	1146253	\N	\N	EFO	3	EFO	epithelial neoplasm	metaplastic breast carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000040	"A distinct aggressive form of invasive breast cancer with histological evidence of epithelial to mesenchymal transition toward spindle, chondroid, or osseous cell types" []	2028657	\N	\N	EFO	4	EFO	neoplasm	metaplastic breast carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000040	"A distinct aggressive form of invasive breast cancer with histological evidence of epithelial to mesenchymal transition toward spindle, chondroid, or osseous cell types" []	2028658	\N	\N	EFO	4	EFO	neoplasm	metaplastic breast carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000040	"A distinct aggressive form of invasive breast cancer with histological evidence of epithelial to mesenchymal transition toward spindle, chondroid, or osseous cell types" []	3179813	\N	\N	EFO	5	EFO	disease	metaplastic breast carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000040	"A distinct aggressive form of invasive breast cancer with histological evidence of epithelial to mesenchymal transition toward spindle, chondroid, or osseous cell types" []	4388816	\N	\N	EFO	6	EFO	disposition	metaplastic breast carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000040	"A distinct aggressive form of invasive breast cancer with histological evidence of epithelial to mesenchymal transition toward spindle, chondroid, or osseous cell types" []	5409001	\N	\N	EFO	7	EFO	material property	metaplastic breast carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000040	"A distinct aggressive form of invasive breast cancer with histological evidence of epithelial to mesenchymal transition toward spindle, chondroid, or osseous cell types" []	6147546	\N	\N	EFO	8	EFO	experimental factor	metaplastic breast carcinoma
EFO:1000041	\N	\N	"Hardening of the walls of the small arteries and arterioles (small arteries that convey blood from arteries to the even smaller capillaries) of the kidney. This condition is caused by hypertension (high blood pressure)" []	EFO:1000041	"Hardening of the walls of the small arteries and arterioles (small arteries that convey blood from arteries to the even smaller capillaries) of the kidney. This condition is caused by hypertension (high blood pressure)" []	69646	\N	\N	EFO	0	EFO	nephrosclerosis	nephrosclerosis
EFO:0000537	EFO:1000041	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:1000041	"Hardening of the walls of the small arteries and arterioles (small arteries that convey blood from arteries to the even smaller capillaries) of the kidney. This condition is caused by hypertension (high blood pressure)" []	211786	\N	\N	EFO	1	EFO	hypertension	nephrosclerosis
EFO:0003086	EFO:1000041	\N	"A disease affecting the kidneys" []	EFO:1000041	"Hardening of the walls of the small arteries and arterioles (small arteries that convey blood from arteries to the even smaller capillaries) of the kidney. This condition is caused by hypertension (high blood pressure)" []	211787	\N	\N	EFO	1	EFO	kidney disease	nephrosclerosis
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000041	"Hardening of the walls of the small arteries and arterioles (small arteries that convey blood from arteries to the even smaller capillaries) of the kidney. This condition is caused by hypertension (high blood pressure)" []	565070	\N	\N	EFO	2	EFO	cardiovascular disease	nephrosclerosis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000041	"Hardening of the walls of the small arteries and arterioles (small arteries that convey blood from arteries to the even smaller capillaries) of the kidney. This condition is caused by hypertension (high blood pressure)" []	565071	\N	\N	EFO	2	EFO	disease	nephrosclerosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000041	"Hardening of the walls of the small arteries and arterioles (small arteries that convey blood from arteries to the even smaller capillaries) of the kidney. This condition is caused by hypertension (high blood pressure)" []	1146254	\N	\N	EFO	3	EFO	disease	nephrosclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000041	"Hardening of the walls of the small arteries and arterioles (small arteries that convey blood from arteries to the even smaller capillaries) of the kidney. This condition is caused by hypertension (high blood pressure)" []	2028659	\N	\N	EFO	4	EFO	disposition	nephrosclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000041	"Hardening of the walls of the small arteries and arterioles (small arteries that convey blood from arteries to the even smaller capillaries) of the kidney. This condition is caused by hypertension (high blood pressure)" []	2999918	\N	\N	EFO	5	EFO	material property	nephrosclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000041	"Hardening of the walls of the small arteries and arterioles (small arteries that convey blood from arteries to the even smaller capillaries) of the kidney. This condition is caused by hypertension (high blood pressure)" []	4132802	\N	\N	EFO	6	EFO	experimental factor	nephrosclerosis
EFO:1000042	\N	\N	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	69647	\N	\N	EFO	0	EFO	ovarian clear cell adenocarcinoma	ovarian clear cell adenocarcinoma
EFO:0000348	EFO:1000042	\N	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	211788	\N	\N	EFO	1	EFO	clear cell adenocarcinoma	ovarian clear cell adenocarcinoma
EFO:0006460	EFO:1000042	\N	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	211789	\N	\N	EFO	1	EFO	ovarian adenocarcinoma	ovarian clear cell adenocarcinoma
EFO:0000228	EFO:0000348	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	565072	\N	\N	EFO	2	EFO	adenocarcinoma	ovarian clear cell adenocarcinoma
EFO:0000228	EFO:0006460	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	565073	\N	\N	EFO	2	EFO	adenocarcinoma	ovarian clear cell adenocarcinoma
EFO:0001075	EFO:0006460	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	565074	\N	\N	EFO	2	EFO	ovarian carcinoma	ovarian clear cell adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	1146256	\N	\N	EFO	3	EFO	carcinoma	ovarian clear cell adenocarcinoma
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	1146257	\N	\N	EFO	3	EFO	carcinoma	ovarian clear cell adenocarcinoma
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	1146258	\N	\N	EFO	3	EFO	ovarian neoplasm	ovarian clear cell adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	2028661	\N	\N	EFO	4	EFO	cancer	ovarian clear cell adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	2028662	\N	\N	EFO	4	EFO	epithelial neoplasm	ovarian clear cell adenocarcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	2028663	\N	\N	EFO	4	EFO	urogenital neoplasm	ovarian clear cell adenocarcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	2028664	\N	\N	EFO	4	EFO	ovarian disease	ovarian clear cell adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	3179815	\N	\N	EFO	5	EFO	neoplasm	ovarian clear cell adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	3179816	\N	\N	EFO	5	EFO	neoplasm	ovarian clear cell adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	3179817	\N	\N	EFO	5	EFO	neoplasm	ovarian clear cell adenocarcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	3179818	\N	\N	EFO	5	EFO	reproductive system disease	ovarian clear cell adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	4388817	\N	\N	EFO	6	EFO	disease	ovarian clear cell adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	4388818	\N	\N	EFO	6	EFO	disease	ovarian clear cell adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	5409002	\N	\N	EFO	7	EFO	disposition	ovarian clear cell adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	6147547	\N	\N	EFO	8	EFO	material property	ovarian clear cell adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000042	"A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia" []	6631863	\N	\N	EFO	9	EFO	experimental factor	ovarian clear cell adenocarcinoma
EFO:1000043	\N	\N	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	69648	\N	\N	EFO	0	EFO	ovarian serous cystadenocarcinoma	ovarian serous cystadenocarcinoma
EFO:0002917	EFO:1000043	\N	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	211790	\N	\N	EFO	1	EFO	ovarian serous adenocarcinoma	ovarian serous cystadenocarcinoma
EFO:0003825	EFO:0002917	\N	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	565075	\N	\N	EFO	2	EFO	serous adenocarcinoma	ovarian serous cystadenocarcinoma
EFO:0003893	EFO:0002917	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	565076	\N	\N	EFO	2	EFO	ovarian neoplasm	ovarian serous cystadenocarcinoma
EFO:0000228	EFO:0003825	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	1146259	\N	\N	EFO	3	EFO	adenocarcinoma	ovarian serous cystadenocarcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	1146260	\N	\N	EFO	3	EFO	urogenital neoplasm	ovarian serous cystadenocarcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	1146261	\N	\N	EFO	3	EFO	ovarian disease	ovarian serous cystadenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	2028665	\N	\N	EFO	4	EFO	carcinoma	ovarian serous cystadenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	2028666	\N	\N	EFO	4	EFO	neoplasm	ovarian serous cystadenocarcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	2028667	\N	\N	EFO	4	EFO	reproductive system disease	ovarian serous cystadenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	3179819	\N	\N	EFO	5	EFO	cancer	ovarian serous cystadenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	3179820	\N	\N	EFO	5	EFO	epithelial neoplasm	ovarian serous cystadenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	5409003	\N	\N	EFO	7	EFO	disease	ovarian serous cystadenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	3179822	\N	\N	EFO	5	EFO	disease	ovarian serous cystadenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	4388819	\N	\N	EFO	6	EFO	neoplasm	ovarian serous cystadenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	4388820	\N	\N	EFO	6	EFO	neoplasm	ovarian serous cystadenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	5876553	\N	\N	EFO	8	EFO	disposition	ovarian serous cystadenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	6469833	\N	\N	EFO	9	EFO	material property	ovarian serous cystadenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000043	"A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features" []	6848222	\N	\N	EFO	10	EFO	experimental factor	ovarian serous cystadenocarcinoma
EFO:1000044	\N	\N	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	69649	\N	\N	EFO	0	EFO	pancreatic adenocarcinoma	pancreatic adenocarcinoma
EFO:0002618	EFO:1000044	\N	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	211791	\N	\N	EFO	1	EFO	pancreatic carcinoma	pancreatic adenocarcinoma
EFO:0000313	EFO:0002618	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	565077	\N	\N	EFO	2	EFO	carcinoma	pancreatic adenocarcinoma
EFO:0003860	EFO:0002618	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	565078	\N	\N	EFO	2	EFO	pancreatic neoplasm	pancreatic adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	1146262	\N	\N	EFO	3	EFO	cancer	pancreatic adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	1146263	\N	\N	EFO	3	EFO	epithelial neoplasm	pancreatic adenocarcinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	1146264	\N	\N	EFO	3	EFO	endocrine neoplasm	pancreatic adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	2028668	\N	\N	EFO	4	EFO	neoplasm	pancreatic adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	2028669	\N	\N	EFO	4	EFO	neoplasm	pancreatic adenocarcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	2028670	\N	\N	EFO	4	EFO	neoplasm	pancreatic adenocarcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	2028671	\N	\N	EFO	4	EFO	endocrine system disease	pancreatic adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	3179823	\N	\N	EFO	5	EFO	disease	pancreatic adenocarcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	3179824	\N	\N	EFO	5	EFO	disease	pancreatic adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	4388822	\N	\N	EFO	6	EFO	disposition	pancreatic adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	5409005	\N	\N	EFO	7	EFO	material property	pancreatic adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000044	"An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma" []	6147549	\N	\N	EFO	8	EFO	experimental factor	pancreatic adenocarcinoma
EFO:1000045	\N	\N	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	69650	\N	\N	EFO	0	EFO	pancreatic neuroendocrine tumor	pancreatic neuroendocrine tumor
EFO:0002618	EFO:1000045	\N	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	211792	\N	\N	EFO	1	EFO	pancreatic carcinoma	pancreatic neuroendocrine tumor
EFO:1001901	EFO:1000045	\N	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	211793	\N	\N	EFO	1	EFO	neuroendocrine neoplasm	pancreatic neuroendocrine tumor
EFO:0000313	EFO:0002618	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	565079	\N	\N	EFO	2	EFO	carcinoma	pancreatic neuroendocrine tumor
EFO:0003860	EFO:0002618	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	565080	\N	\N	EFO	2	EFO	pancreatic neoplasm	pancreatic neuroendocrine tumor
EFO:0003769	EFO:1001901	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	565081	\N	\N	EFO	2	EFO	endocrine neoplasm	pancreatic neuroendocrine tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	1146265	\N	\N	EFO	3	EFO	cancer	pancreatic neuroendocrine tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	1146266	\N	\N	EFO	3	EFO	epithelial neoplasm	pancreatic neuroendocrine tumor
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	1146267	\N	\N	EFO	3	EFO	endocrine neoplasm	pancreatic neuroendocrine tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	2028674	\N	\N	EFO	4	EFO	neoplasm	pancreatic neuroendocrine tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	2028675	\N	\N	EFO	4	EFO	endocrine system disease	pancreatic neuroendocrine tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	2028672	\N	\N	EFO	4	EFO	neoplasm	pancreatic neuroendocrine tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	2028673	\N	\N	EFO	4	EFO	neoplasm	pancreatic neuroendocrine tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	2999919	\N	\N	EFO	5	EFO	disease	pancreatic neuroendocrine tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	2999920	\N	\N	EFO	5	EFO	disease	pancreatic neuroendocrine tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	4132803	\N	\N	EFO	6	EFO	disposition	pancreatic neuroendocrine tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	5181083	\N	\N	EFO	7	EFO	material property	pancreatic neuroendocrine tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000045	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional" []	5996638	\N	\N	EFO	8	EFO	experimental factor	pancreatic neuroendocrine tumor
EFO:1000046	\N	\N	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	69651	\N	\N	EFO	0	EFO	papillary lung adenocarcinoma	papillary lung adenocarcinoma
EFO:0000571	EFO:1000046	\N	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	211794	\N	\N	EFO	1	EFO	lung adenocarcinoma	papillary lung adenocarcinoma
EFO:0001071	EFO:0000571	\N	"Tumors or cancer of the LUNG." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	565082	\N	\N	EFO	2	EFO	lung carcinoma	papillary lung adenocarcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	1146270	\N	\N	EFO	3	EFO	carcinoma	papillary lung adenocarcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	1146271	\N	\N	EFO	3	EFO	lung disease	papillary lung adenocarcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	1146272	\N	\N	EFO	3	EFO	respiratory system neoplasm	papillary lung adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	2028678	\N	\N	EFO	4	EFO	cancer	papillary lung adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	2028679	\N	\N	EFO	4	EFO	epithelial neoplasm	papillary lung adenocarcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	2028680	\N	\N	EFO	4	EFO	respiratory system disease	papillary lung adenocarcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	2028681	\N	\N	EFO	4	EFO	neoplasm	papillary lung adenocarcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	2028682	\N	\N	EFO	4	EFO	respiratory system disease	papillary lung adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	3179826	\N	\N	EFO	5	EFO	neoplasm	papillary lung adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	3179827	\N	\N	EFO	5	EFO	neoplasm	papillary lung adenocarcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	3179828	\N	\N	EFO	5	EFO	disease	papillary lung adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	4388824	\N	\N	EFO	6	EFO	disease	papillary lung adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	5181084	\N	\N	EFO	7	EFO	disposition	papillary lung adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	5996639	\N	\N	EFO	8	EFO	material property	papillary lung adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000046	"A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures" []	6550387	\N	\N	EFO	9	EFO	experimental factor	papillary lung adenocarcinoma
EFO:1000047	\N	\N	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	EFO:1000047	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	69652	\N	\N	EFO	0	EFO	pleomorphic breast carcinoma	pleomorphic breast carcinoma
EFO:0000186	EFO:1000047	\N	"The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas.  The gross appearance is usually typical with an irregular stellate outline.  Microscopically, randomly arranged epithelial elements are seen.  When large sheets of malignant cells are present, necrosis may be seen.  With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma.  The in situ component is nearly always ductal but occasionally may be lobular or both." []	EFO:1000047	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	211795	\N	\N	EFO	1	EFO	invasive ductal carcinoma	pleomorphic breast carcinoma
EFO:0000305	EFO:0000186	\N	"Tumors or cancer of the human BREAST." []	EFO:1000047	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	565083	\N	\N	EFO	2	EFO	breast carcinoma	pleomorphic breast carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000047	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	1146273	\N	\N	EFO	3	EFO	carcinoma	pleomorphic breast carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000047	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	2028683	\N	\N	EFO	4	EFO	cancer	pleomorphic breast carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000047	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	2028684	\N	\N	EFO	4	EFO	epithelial neoplasm	pleomorphic breast carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000047	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	3179830	\N	\N	EFO	5	EFO	neoplasm	pleomorphic breast carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000047	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	3179831	\N	\N	EFO	5	EFO	neoplasm	pleomorphic breast carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000047	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	4388826	\N	\N	EFO	6	EFO	disease	pleomorphic breast carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000047	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	5409008	\N	\N	EFO	7	EFO	disposition	pleomorphic breast carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000047	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	6147551	\N	\N	EFO	8	EFO	material property	pleomorphic breast carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000047	"A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." []	6631864	\N	\N	EFO	9	EFO	experimental factor	pleomorphic breast carcinoma
EFO:1000048	\N	\N	"Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus." []	EFO:1000048	"Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus." []	69653	\N	\N	EFO	0	EFO	postweaning multisystemic wasting syndrome	postweaning multisystemic wasting syndrome
EFO:0005932	EFO:1000048	\N	"A disease that occurs in animals." []	EFO:1000048	"Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus." []	211796	\N	\N	EFO	1	EFO	animal disease	postweaning multisystemic wasting syndrome
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000048	"Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus." []	565084	\N	\N	EFO	2	EFO	disease	postweaning multisystemic wasting syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000048	"Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus." []	1146274	\N	\N	EFO	3	EFO	disposition	postweaning multisystemic wasting syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000048	"Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus." []	2028685	\N	\N	EFO	4	EFO	material property	postweaning multisystemic wasting syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000048	"Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus." []	3179832	\N	\N	EFO	5	EFO	experimental factor	postweaning multisystemic wasting syndrome
EFO:1000049	\N	\N	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	EFO:1000049	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	69654	\N	\N	EFO	0	EFO	pulmonary tuberculosis	pulmonary tuberculosis
EFO:0003818	EFO:1000049	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000049	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	211797	\N	\N	EFO	1	EFO	lung disease	pulmonary tuberculosis
Orphanet:3389	EFO:1000049	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:1000049	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	211798	\N	\N	EFO	1	EFO	Tuberculosis	pulmonary tuberculosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000049	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	565085	\N	\N	EFO	2	EFO	respiratory system disease	pulmonary tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000049	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	565086	\N	\N	EFO	2	EFO	respiratory system disease	pulmonary tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000049	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	565087	\N	\N	EFO	2	EFO	bacterial disease	pulmonary tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000049	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	1146275	\N	\N	EFO	3	EFO	disease	pulmonary tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000049	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	1146276	\N	\N	EFO	3	EFO	infectious disease	pulmonary tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000049	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	3179834	\N	\N	EFO	5	EFO	disposition	pulmonary tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000049	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	2028687	\N	\N	EFO	4	EFO	disease	pulmonary tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000049	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	4132804	\N	\N	EFO	6	EFO	material property	pulmonary tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000049	"A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss" []	5181085	\N	\N	EFO	7	EFO	experimental factor	pulmonary tuberculosis
EFO:1000050	\N	\N	"Rare benign tumour of the kidney originating from muscle cells" []	EFO:1000050	"Rare benign tumour of the kidney originating from muscle cells" []	69655	\N	\N	EFO	0	EFO	renal leiomyoma	renal leiomyoma
EFO:0000616	EFO:1000050	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000050	"Rare benign tumour of the kidney originating from muscle cells" []	211799	\N	\N	EFO	1	EFO	neoplasm	renal leiomyoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000050	"Rare benign tumour of the kidney originating from muscle cells" []	565088	\N	\N	EFO	2	EFO	disease	renal leiomyoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000050	"Rare benign tumour of the kidney originating from muscle cells" []	1146277	\N	\N	EFO	3	EFO	disposition	renal leiomyoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000050	"Rare benign tumour of the kidney originating from muscle cells" []	2028688	\N	\N	EFO	4	EFO	material property	renal leiomyoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000050	"Rare benign tumour of the kidney originating from muscle cells" []	3179835	\N	\N	EFO	5	EFO	experimental factor	renal leiomyoma
EFO:1000051	\N	\N	"A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" []	EFO:1000051	"A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" []	69656	\N	\N	EFO	0	EFO	reproductive system neoplasm	reproductive system neoplasm
EFO:0000616	EFO:1000051	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000051	"A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" []	211800	\N	\N	EFO	1	EFO	neoplasm	reproductive system neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000051	"A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" []	565089	\N	\N	EFO	2	EFO	disease	reproductive system neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000051	"A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" []	1146278	\N	\N	EFO	3	EFO	disposition	reproductive system neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000051	"A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" []	2028689	\N	\N	EFO	4	EFO	material property	reproductive system neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000051	"A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" []	3179836	\N	\N	EFO	5	EFO	experimental factor	reproductive system neoplasm
EFO:1000052	\N	\N	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	EFO:1000052	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	69657	\N	\N	EFO	0	EFO	sex cord-stromal tumor	sex cord-stromal tumor
EFO:0000512	EFO:1000052	\N	"any diease of the reproductive system" []	EFO:1000052	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	211801	\N	\N	EFO	1	EFO	reproductive system disease	sex cord-stromal tumor
EFO:0003863	EFO:1000052	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000052	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	211802	\N	\N	EFO	1	EFO	urogenital neoplasm	sex cord-stromal tumor
EFO:1000051	EFO:1000052	\N	"A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" []	EFO:1000052	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	211803	\N	\N	EFO	1	EFO	reproductive system neoplasm	sex cord-stromal tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000052	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	565090	\N	\N	EFO	2	EFO	disease	sex cord-stromal tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000052	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	565091	\N	\N	EFO	2	EFO	neoplasm	sex cord-stromal tumor
EFO:0000616	EFO:1000051	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000052	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	565092	\N	\N	EFO	2	EFO	neoplasm	sex cord-stromal tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000052	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	2028691	\N	\N	EFO	4	EFO	disposition	sex cord-stromal tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000052	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	1146280	\N	\N	EFO	3	EFO	disease	sex cord-stromal tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000052	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	2999921	\N	\N	EFO	5	EFO	material property	sex cord-stromal tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000052	"A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." []	4132805	\N	\N	EFO	6	EFO	experimental factor	sex cord-stromal tumor
EFO:1000053	\N	\N	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	EFO:1000053	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	69658	\N	\N	EFO	0	EFO	squamous cell breast carcinoma	squamous cell breast carcinoma
EFO:0000707	EFO:1000053	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000053	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	211804	\N	\N	EFO	1	EFO	squamous cell carcinoma	squamous cell breast carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000053	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	565093	\N	\N	EFO	2	EFO	carcinoma	squamous cell breast carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000053	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	1146281	\N	\N	EFO	3	EFO	cancer	squamous cell breast carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000053	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	1146282	\N	\N	EFO	3	EFO	epithelial neoplasm	squamous cell breast carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000053	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	2028692	\N	\N	EFO	4	EFO	neoplasm	squamous cell breast carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000053	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	2028693	\N	\N	EFO	4	EFO	neoplasm	squamous cell breast carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000053	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	3179838	\N	\N	EFO	5	EFO	disease	squamous cell breast carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000053	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	4388828	\N	\N	EFO	6	EFO	disposition	squamous cell breast carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000053	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	5409009	\N	\N	EFO	7	EFO	material property	squamous cell breast carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000053	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	6147552	\N	\N	EFO	8	EFO	experimental factor	squamous cell breast carcinoma
EFO:1000054	\N	\N	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	69659	\N	\N	EFO	0	EFO	thymic lymphoma	thymic lymphoma
EFO:0000574	EFO:1000054	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	211805	\N	\N	EFO	1	EFO	lymphoma	thymic lymphoma
EFO:0003769	EFO:1000054	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	211806	\N	\N	EFO	1	EFO	endocrine neoplasm	thymic lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	565094	\N	\N	EFO	2	EFO	lymphoid neoplasm	thymic lymphoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	565095	\N	\N	EFO	2	EFO	neoplasm	thymic lymphoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	565096	\N	\N	EFO	2	EFO	endocrine system disease	thymic lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	1146283	\N	\N	EFO	3	EFO	cancer	thymic lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	1146284	\N	\N	EFO	3	EFO	hematological system disease	thymic lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	3179839	\N	\N	EFO	5	EFO	disease	thymic lymphoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	1146286	\N	\N	EFO	3	EFO	disease	thymic lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	2028694	\N	\N	EFO	4	EFO	neoplasm	thymic lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	2028695	\N	\N	EFO	4	EFO	disease	thymic lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	4066737	\N	\N	EFO	6	EFO	disposition	thymic lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	5059384	\N	\N	EFO	7	EFO	material property	thymic lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000054	"A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma" []	5876554	\N	\N	EFO	8	EFO	experimental factor	thymic lymphoma
EFO:1000055	\N	\N	"A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." []	EFO:1000055	"A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." []	69660	\N	\N	EFO	0	EFO	tongue squamous cell carcinoma	tongue squamous cell carcinoma
EFO:0003871	EFO:1000055	\N	"Tumors or cancer of the TONGUE." []	EFO:1000055	"A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." []	211807	\N	\N	EFO	1	EFO	tongue neoplasm	tongue squamous cell carcinoma
EFO:0005950	EFO:0003871	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000055	"A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." []	565097	\N	\N	EFO	2	EFO	head and neck neoplasia	tongue squamous cell carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000055	"A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." []	1146287	\N	\N	EFO	3	EFO	head disease	tongue squamous cell carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000055	"A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." []	1146288	\N	\N	EFO	3	EFO	neoplasm	tongue squamous cell carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000055	"A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." []	2028697	\N	\N	EFO	4	EFO	disease	tongue squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000055	"A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." []	2028698	\N	\N	EFO	4	EFO	disease	tongue squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000055	"A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." []	3179842	\N	\N	EFO	5	EFO	disposition	tongue squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000055	"A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." []	4388830	\N	\N	EFO	6	EFO	material property	tongue squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000055	"A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." []	5409010	\N	\N	EFO	7	EFO	experimental factor	tongue squamous cell carcinoma
EFO:1000057	\N	\N	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	69661	\N	\N	EFO	0	EFO	nasal cavity squamous cell carcinoma	nasal cavity squamous cell carcinoma
EFO:0000181	EFO:1000057	\N	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	211808	\N	\N	EFO	1	EFO	head and neck squamous cell carcinoma	nasal cavity squamous cell carcinoma
EFO:0000707	EFO:0000181	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	565098	\N	\N	EFO	2	EFO	squamous cell carcinoma	nasal cavity squamous cell carcinoma
EFO:0005950	EFO:0000181	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	565099	\N	\N	EFO	2	EFO	head and neck neoplasia	nasal cavity squamous cell carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	1146289	\N	\N	EFO	3	EFO	carcinoma	nasal cavity squamous cell carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	1146290	\N	\N	EFO	3	EFO	head disease	nasal cavity squamous cell carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	1146291	\N	\N	EFO	3	EFO	neoplasm	nasal cavity squamous cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	2028699	\N	\N	EFO	4	EFO	cancer	nasal cavity squamous cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	2028700	\N	\N	EFO	4	EFO	epithelial neoplasm	nasal cavity squamous cell carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	2028701	\N	\N	EFO	4	EFO	disease	nasal cavity squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	4388831	\N	\N	EFO	6	EFO	disease	nasal cavity squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	3179843	\N	\N	EFO	5	EFO	neoplasm	nasal cavity squamous cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	3179844	\N	\N	EFO	5	EFO	neoplasm	nasal cavity squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	5059385	\N	\N	EFO	7	EFO	disposition	nasal cavity squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	5876555	\N	\N	EFO	8	EFO	material property	nasal cavity squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000057	"A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." []	6469834	\N	\N	EFO	9	EFO	experimental factor	nasal cavity squamous cell carcinoma
EFO:1000058	\N	\N	"A squamous cell carcinoma that arises from the nasopharynx" []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	69662	\N	\N	EFO	0	EFO	nasopharyngeal squamous cell carcinoma	nasopharyngeal squamous cell carcinoma
EFO:0000181	EFO:1000058	\N	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	211809	\N	\N	EFO	1	EFO	head and neck squamous cell carcinoma	nasopharyngeal squamous cell carcinoma
EFO:0000707	EFO:0000181	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	565100	\N	\N	EFO	2	EFO	squamous cell carcinoma	nasopharyngeal squamous cell carcinoma
EFO:0005950	EFO:0000181	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	565101	\N	\N	EFO	2	EFO	head and neck neoplasia	nasopharyngeal squamous cell carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	1146292	\N	\N	EFO	3	EFO	carcinoma	nasopharyngeal squamous cell carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	1146293	\N	\N	EFO	3	EFO	head disease	nasopharyngeal squamous cell carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	1146294	\N	\N	EFO	3	EFO	neoplasm	nasopharyngeal squamous cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	2028703	\N	\N	EFO	4	EFO	cancer	nasopharyngeal squamous cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	2028704	\N	\N	EFO	4	EFO	epithelial neoplasm	nasopharyngeal squamous cell carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	2028705	\N	\N	EFO	4	EFO	disease	nasopharyngeal squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	4388833	\N	\N	EFO	6	EFO	disease	nasopharyngeal squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	3179846	\N	\N	EFO	5	EFO	neoplasm	nasopharyngeal squamous cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	3179847	\N	\N	EFO	5	EFO	neoplasm	nasopharyngeal squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	5059386	\N	\N	EFO	7	EFO	disposition	nasopharyngeal squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	5876556	\N	\N	EFO	8	EFO	material property	nasopharyngeal squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000058	"A squamous cell carcinoma that arises from the nasopharynx" []	6469835	\N	\N	EFO	9	EFO	experimental factor	nasopharyngeal squamous cell carcinoma
EFO:1000059	\N	\N	"a tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \\"false lumen\\" created by the new space within the wall of the artery." []	EFO:1000059	"a tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \\"false lumen\\" created by the new space within the wall of the artery." []	69663	\N	\N	EFO	0	EFO	cervical artery dissection	cervical artery dissection
EFO:0004264	EFO:1000059	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000059	"a tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \\"false lumen\\" created by the new space within the wall of the artery." []	211810	\N	\N	EFO	1	EFO	vascular disease	cervical artery dissection
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000059	"a tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \\"false lumen\\" created by the new space within the wall of the artery." []	565102	\N	\N	EFO	2	EFO	cardiovascular disease	cervical artery dissection
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000059	"a tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \\"false lumen\\" created by the new space within the wall of the artery." []	1146295	\N	\N	EFO	3	EFO	disease	cervical artery dissection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000059	"a tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \\"false lumen\\" created by the new space within the wall of the artery." []	2028707	\N	\N	EFO	4	EFO	disposition	cervical artery dissection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000059	"a tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \\"false lumen\\" created by the new space within the wall of the artery." []	3179849	\N	\N	EFO	5	EFO	material property	cervical artery dissection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000059	"a tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \\"false lumen\\" created by the new space within the wall of the artery." []	4388835	\N	\N	EFO	6	EFO	experimental factor	cervical artery dissection
EFO:1000060	\N	\N	"Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." []	EFO:1000060	"Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." []	69664	\N	\N	EFO	0	EFO	intestinal disaccharide deficiency and disaccharide malabsorption	intestinal disaccharide deficiency and disaccharide malabsorption
EFO:0000405	EFO:1000060	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000060	"Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." []	211811	\N	\N	EFO	1	EFO	digestive system disease	intestinal disaccharide deficiency and disaccharide malabsorption
EFO:1000061	EFO:1000060	\N	"" []	EFO:1000060	"Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." []	211812	\N	\N	EFO	1	EFO	carbohydrate metabolic disorder	intestinal disaccharide deficiency and disaccharide malabsorption
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000060	"Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." []	565103	\N	\N	EFO	2	EFO	disease	intestinal disaccharide deficiency and disaccharide malabsorption
EFO:0000589	EFO:1000061	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000060	"Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." []	565104	\N	\N	EFO	2	EFO	metabolic disease	intestinal disaccharide deficiency and disaccharide malabsorption
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000060	"Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." []	2028709	\N	\N	EFO	4	EFO	disposition	intestinal disaccharide deficiency and disaccharide malabsorption
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000060	"Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." []	1146297	\N	\N	EFO	3	EFO	disease	intestinal disaccharide deficiency and disaccharide malabsorption
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000060	"Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." []	2999922	\N	\N	EFO	5	EFO	material property	intestinal disaccharide deficiency and disaccharide malabsorption
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000060	"Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." []	4132807	\N	\N	EFO	6	EFO	experimental factor	intestinal disaccharide deficiency and disaccharide malabsorption
EFO:1000061	\N	\N	"" []	EFO:1000061	"" []	69665	\N	\N	EFO	0	EFO	carbohydrate metabolic disorder	carbohydrate metabolic disorder
EFO:0000589	EFO:1000061	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000061	"" []	211813	\N	\N	EFO	1	EFO	metabolic disease	carbohydrate metabolic disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000061	"" []	565105	\N	\N	EFO	2	EFO	disease	carbohydrate metabolic disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000061	"" []	1146298	\N	\N	EFO	3	EFO	disposition	carbohydrate metabolic disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000061	"" []	2028710	\N	\N	EFO	4	EFO	material property	carbohydrate metabolic disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000061	"" []	3179851	\N	\N	EFO	5	EFO	experimental factor	carbohydrate metabolic disorder
EFO:1000062	\N	\N	"Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose." []	EFO:1000062	"Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose." []	69666	\N	\N	EFO	0	EFO	lactose intolerance	lactose intolerance
EFO:0001069	EFO:1000062	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1000062	"Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose." []	211814	\N	\N	EFO	1	EFO	nutritional disorder	lactose intolerance
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000062	"Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose." []	565106	\N	\N	EFO	2	EFO	metabolic disease	lactose intolerance
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000062	"Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose." []	1146299	\N	\N	EFO	3	EFO	disease	lactose intolerance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000062	"Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose." []	2028711	\N	\N	EFO	4	EFO	disposition	lactose intolerance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000062	"Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose." []	3179852	\N	\N	EFO	5	EFO	material property	lactose intolerance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000062	"Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose." []	4388836	\N	\N	EFO	6	EFO	experimental factor	lactose intolerance
EFO:1000063	\N	\N	"Adult onset lactose intolerance" []	EFO:1000063	"Adult onset lactose intolerance" []	69667	\N	\N	EFO	0	EFO	lactose intolerance adult type	lactose intolerance adult type
EFO:1000062	EFO:1000063	\N	"Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose." []	EFO:1000063	"Adult onset lactose intolerance" []	211815	\N	\N	EFO	1	EFO	lactose intolerance	lactose intolerance adult type
EFO:0001069	EFO:1000062	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1000063	"Adult onset lactose intolerance" []	565107	\N	\N	EFO	2	EFO	nutritional disorder	lactose intolerance adult type
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000063	"Adult onset lactose intolerance" []	1146300	\N	\N	EFO	3	EFO	metabolic disease	lactose intolerance adult type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000063	"Adult onset lactose intolerance" []	2028712	\N	\N	EFO	4	EFO	disease	lactose intolerance adult type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000063	"Adult onset lactose intolerance" []	3179853	\N	\N	EFO	5	EFO	disposition	lactose intolerance adult type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000063	"Adult onset lactose intolerance" []	4388837	\N	\N	EFO	6	EFO	material property	lactose intolerance adult type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000063	"Adult onset lactose intolerance" []	5409013	\N	\N	EFO	7	EFO	experimental factor	lactose intolerance adult type
EFO:1000064	\N	\N	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	69668	\N	\N	EFO	0	EFO	Acinar Prostate Adenocarcinoma, Foamy Gland Variant	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000216	EFO:1000064	\N	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	211816	\N	\N	EFO	1	EFO	acinar cell carcinoma	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000673	EFO:1000064	\N	"Tumors or cancer of the PROSTATE." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	211817	\N	\N	EFO	1	EFO	prostate adenocarcinoma	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000313	EFO:0000216	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	565108	\N	\N	EFO	2	EFO	carcinoma	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000228	EFO:0000673	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	565109	\N	\N	EFO	2	EFO	adenocarcinoma	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0001663	EFO:0000673	\N	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	565110	\N	\N	EFO	2	EFO	prostate carcinoma	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	2028715	\N	\N	EFO	4	EFO	cancer	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	2028716	\N	\N	EFO	4	EFO	epithelial neoplasm	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	1146303	\N	\N	EFO	3	EFO	carcinoma	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000313	EFO:0001663	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	1146304	\N	\N	EFO	3	EFO	carcinoma	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000512	EFO:0001663	\N	"any diease of the reproductive system" []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	1146305	\N	\N	EFO	3	EFO	reproductive system disease	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0003863	EFO:0001663	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	1146306	\N	\N	EFO	3	EFO	urogenital neoplasm	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	2999923	\N	\N	EFO	5	EFO	neoplasm	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	2999924	\N	\N	EFO	5	EFO	neoplasm	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	2028717	\N	\N	EFO	4	EFO	disease	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	2028718	\N	\N	EFO	4	EFO	neoplasm	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	4132808	\N	\N	EFO	6	EFO	disease	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	5181087	\N	\N	EFO	7	EFO	disposition	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	5876557	\N	\N	EFO	8	EFO	material property	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000064	"A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." []	6469836	\N	\N	EFO	9	EFO	experimental factor	Acinar Prostate Adenocarcinoma, Foamy Gland Variant
EFO:1000065	\N	\N	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	69669	\N	\N	EFO	0	EFO	Acinar Prostate Mucinous Adenocarcinoma	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000216	EFO:1000065	\N	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	211818	\N	\N	EFO	1	EFO	acinar cell carcinoma	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000673	EFO:1000065	\N	"Tumors or cancer of the PROSTATE." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	211819	\N	\N	EFO	1	EFO	prostate adenocarcinoma	Acinar Prostate Mucinous Adenocarcinoma
EFO:1000387	EFO:1000065	\N	"" []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	211820	\N	\N	EFO	1	EFO	mucinuos carcinoma	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000313	EFO:0000216	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	565111	\N	\N	EFO	2	EFO	carcinoma	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000228	EFO:0000673	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	565112	\N	\N	EFO	2	EFO	adenocarcinoma	Acinar Prostate Mucinous Adenocarcinoma
EFO:0001663	EFO:0000673	\N	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	565113	\N	\N	EFO	2	EFO	prostate carcinoma	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000228	EFO:1000387	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	565114	\N	\N	EFO	2	EFO	adenocarcinoma	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	2028721	\N	\N	EFO	4	EFO	cancer	Acinar Prostate Mucinous Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	2028722	\N	\N	EFO	4	EFO	epithelial neoplasm	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	1146309	\N	\N	EFO	3	EFO	carcinoma	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000313	EFO:0001663	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	1146310	\N	\N	EFO	3	EFO	carcinoma	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000512	EFO:0001663	\N	"any diease of the reproductive system" []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	1146311	\N	\N	EFO	3	EFO	reproductive system disease	Acinar Prostate Mucinous Adenocarcinoma
EFO:0003863	EFO:0001663	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	1146312	\N	\N	EFO	3	EFO	urogenital neoplasm	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	2999925	\N	\N	EFO	5	EFO	neoplasm	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	2999926	\N	\N	EFO	5	EFO	neoplasm	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	2028723	\N	\N	EFO	4	EFO	disease	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	2028724	\N	\N	EFO	4	EFO	neoplasm	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	4132809	\N	\N	EFO	6	EFO	disease	Acinar Prostate Mucinous Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	5181089	\N	\N	EFO	7	EFO	disposition	Acinar Prostate Mucinous Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	5876558	\N	\N	EFO	8	EFO	material property	Acinar Prostate Mucinous Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000065	"A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []	6469837	\N	\N	EFO	9	EFO	experimental factor	Acinar Prostate Mucinous Adenocarcinoma
EFO:1000066	\N	\N	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	69670	\N	\N	EFO	0	EFO	ACTH-Producing Pituitary Gland Adenoma	ACTH-Producing Pituitary Gland Adenoma
EFO:0000232	EFO:1000066	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	211821	\N	\N	EFO	1	EFO	adenoma	ACTH-Producing Pituitary Gland Adenoma
EFO:0003769	EFO:1000066	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	211822	\N	\N	EFO	1	EFO	endocrine neoplasm	ACTH-Producing Pituitary Gland Adenoma
EFO:0003833	EFO:1000066	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	211823	\N	\N	EFO	1	EFO	brain neoplasm	ACTH-Producing Pituitary Gland Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	565115	\N	\N	EFO	2	EFO	benign neoplasm	ACTH-Producing Pituitary Gland Adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	565116	\N	\N	EFO	2	EFO	neoplasm	ACTH-Producing Pituitary Gland Adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	565117	\N	\N	EFO	2	EFO	endocrine system disease	ACTH-Producing Pituitary Gland Adenoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	565118	\N	\N	EFO	2	EFO	neoplasm	ACTH-Producing Pituitary Gland Adenoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	565119	\N	\N	EFO	2	EFO	brain disease	ACTH-Producing Pituitary Gland Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	1146313	\N	\N	EFO	3	EFO	neoplasm	ACTH-Producing Pituitary Gland Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	2028725	\N	\N	EFO	4	EFO	disease	ACTH-Producing Pituitary Gland Adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	1146315	\N	\N	EFO	3	EFO	disease	ACTH-Producing Pituitary Gland Adenoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	1146316	\N	\N	EFO	3	EFO	nervous system disease	ACTH-Producing Pituitary Gland Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	2999927	\N	\N	EFO	5	EFO	disposition	ACTH-Producing Pituitary Gland Adenoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	2028727	\N	\N	EFO	4	EFO	disease	ACTH-Producing Pituitary Gland Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	4132810	\N	\N	EFO	6	EFO	material property	ACTH-Producing Pituitary Gland Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000066	"An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." []	5181091	\N	\N	EFO	7	EFO	experimental factor	ACTH-Producing Pituitary Gland Adenoma
EFO:1000067	\N	\N	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	69671	\N	\N	EFO	0	EFO	ACTH-Producing Pituitary Gland Carcinoma	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000228	EFO:1000067	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	211824	\N	\N	EFO	1	EFO	adenocarcinoma	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000326	EFO:1000067	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	211825	\N	\N	EFO	1	EFO	central nervous system cancer	ACTH-Producing Pituitary Gland Carcinoma
EFO:0003769	EFO:1000067	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	211826	\N	\N	EFO	1	EFO	endocrine neoplasm	ACTH-Producing Pituitary Gland Carcinoma
EFO:0003833	EFO:1000067	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	211827	\N	\N	EFO	1	EFO	brain neoplasm	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	565120	\N	\N	EFO	2	EFO	carcinoma	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	565121	\N	\N	EFO	2	EFO	cancer	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	565122	\N	\N	EFO	2	EFO	nervous system disease	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	565123	\N	\N	EFO	2	EFO	neoplasm	ACTH-Producing Pituitary Gland Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	565124	\N	\N	EFO	2	EFO	endocrine system disease	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	565125	\N	\N	EFO	2	EFO	neoplasm	ACTH-Producing Pituitary Gland Carcinoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	565126	\N	\N	EFO	2	EFO	brain disease	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	1146317	\N	\N	EFO	3	EFO	cancer	ACTH-Producing Pituitary Gland Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	1146318	\N	\N	EFO	3	EFO	epithelial neoplasm	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	2028728	\N	\N	EFO	4	EFO	neoplasm	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	2028732	\N	\N	EFO	4	EFO	disease	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	2999928	\N	\N	EFO	5	EFO	disease	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	1146322	\N	\N	EFO	3	EFO	disease	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	1146323	\N	\N	EFO	3	EFO	nervous system disease	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	2028729	\N	\N	EFO	4	EFO	neoplasm	ACTH-Producing Pituitary Gland Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	4066738	\N	\N	EFO	6	EFO	disposition	ACTH-Producing Pituitary Gland Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	5059387	\N	\N	EFO	7	EFO	material property	ACTH-Producing Pituitary Gland Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000067	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." []	5876559	\N	\N	EFO	8	EFO	experimental factor	ACTH-Producing Pituitary Gland Carcinoma
EFO:1000068	\N	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:1000068	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	69672	\N	\N	EFO	0	EFO	Acute Leukemia	Acute Leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1000068	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	211828	\N	\N	EFO	1	EFO	leukemia	Acute Leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000068	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	565127	\N	\N	EFO	2	EFO	lymphoid neoplasm	Acute Leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000068	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	1146324	\N	\N	EFO	3	EFO	cancer	Acute Leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000068	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	1146325	\N	\N	EFO	3	EFO	hematological system disease	Acute Leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000068	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	2028733	\N	\N	EFO	4	EFO	neoplasm	Acute Leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000068	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	2028734	\N	\N	EFO	4	EFO	disease	Acute Leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000068	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	3179860	\N	\N	EFO	5	EFO	disease	Acute Leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000068	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	4388844	\N	\N	EFO	6	EFO	disposition	Acute Leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000068	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	5181093	\N	\N	EFO	7	EFO	material property	Acute Leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000068	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	5996642	\N	\N	EFO	8	EFO	experimental factor	Acute Leukemia
EFO:1000069	\N	\N	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	69673	\N	\N	EFO	0	EFO	Adamantinomatous Craniopharyngioma	Adamantinomatous Craniopharyngioma
EFO:0002461	EFO:1000069	\N	"Any disease which affects part of the skeletal system." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	211829	\N	\N	EFO	1	EFO	skeletal system disease	Adamantinomatous Craniopharyngioma
EFO:0003769	EFO:1000069	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	211830	\N	\N	EFO	1	EFO	endocrine neoplasm	Adamantinomatous Craniopharyngioma
EFO:0003833	EFO:1000069	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	211831	\N	\N	EFO	1	EFO	brain neoplasm	Adamantinomatous Craniopharyngioma
EFO:0005950	EFO:1000069	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	211832	\N	\N	EFO	1	EFO	head and neck neoplasia	Adamantinomatous Craniopharyngioma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	565128	\N	\N	EFO	2	EFO	disease	Adamantinomatous Craniopharyngioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	565129	\N	\N	EFO	2	EFO	neoplasm	Adamantinomatous Craniopharyngioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	565130	\N	\N	EFO	2	EFO	endocrine system disease	Adamantinomatous Craniopharyngioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	565131	\N	\N	EFO	2	EFO	neoplasm	Adamantinomatous Craniopharyngioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	565132	\N	\N	EFO	2	EFO	brain disease	Adamantinomatous Craniopharyngioma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	565133	\N	\N	EFO	2	EFO	head disease	Adamantinomatous Craniopharyngioma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	565134	\N	\N	EFO	2	EFO	neoplasm	Adamantinomatous Craniopharyngioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	3179863	\N	\N	EFO	5	EFO	disposition	Adamantinomatous Craniopharyngioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	1146327	\N	\N	EFO	3	EFO	disease	Adamantinomatous Craniopharyngioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	1146328	\N	\N	EFO	3	EFO	disease	Adamantinomatous Craniopharyngioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	1146329	\N	\N	EFO	3	EFO	nervous system disease	Adamantinomatous Craniopharyngioma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	1146330	\N	\N	EFO	3	EFO	disease	Adamantinomatous Craniopharyngioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	4066739	\N	\N	EFO	6	EFO	material property	Adamantinomatous Craniopharyngioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	2028737	\N	\N	EFO	4	EFO	disease	Adamantinomatous Craniopharyngioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000069	"A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" []	5059388	\N	\N	EFO	7	EFO	experimental factor	Adamantinomatous Craniopharyngioma
EFO:1000070	\N	\N	"A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." []	EFO:1000070	"A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." []	69674	\N	\N	EFO	0	EFO	Adenofibroma	Adenofibroma
EFO:0002424	EFO:1000070	\N	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	EFO:1000070	"A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." []	211833	\N	\N	EFO	1	EFO	fibroma	Adenofibroma
EFO:0002422	EFO:0002424	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000070	"A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." []	565135	\N	\N	EFO	2	EFO	benign neoplasm	Adenofibroma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000070	"A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." []	1146331	\N	\N	EFO	3	EFO	neoplasm	Adenofibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000070	"A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." []	2028738	\N	\N	EFO	4	EFO	disease	Adenofibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000070	"A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." []	3179864	\N	\N	EFO	5	EFO	disposition	Adenofibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000070	"A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." []	4388846	\N	\N	EFO	6	EFO	material property	Adenofibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000070	"A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." []	5409017	\N	\N	EFO	7	EFO	experimental factor	Adenofibroma
EFO:1000071	\N	\N	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	69675	\N	\N	EFO	0	EFO	Adenoid Cystic Breast Carcinoma	Adenoid Cystic Breast Carcinoma
EFO:0000231	EFO:1000071	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	211834	\N	\N	EFO	1	EFO	adenoid cystic carcinoma	Adenoid Cystic Breast Carcinoma
EFO:0000305	EFO:1000071	\N	"Tumors or cancer of the human BREAST." []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	211835	\N	\N	EFO	1	EFO	breast carcinoma	Adenoid Cystic Breast Carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	565136	\N	\N	EFO	2	EFO	carcinoma	Adenoid Cystic Breast Carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	565137	\N	\N	EFO	2	EFO	carcinoma	Adenoid Cystic Breast Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	1146332	\N	\N	EFO	3	EFO	cancer	Adenoid Cystic Breast Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	1146333	\N	\N	EFO	3	EFO	epithelial neoplasm	Adenoid Cystic Breast Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	2028739	\N	\N	EFO	4	EFO	neoplasm	Adenoid Cystic Breast Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	2028740	\N	\N	EFO	4	EFO	neoplasm	Adenoid Cystic Breast Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	3179865	\N	\N	EFO	5	EFO	disease	Adenoid Cystic Breast Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	4388847	\N	\N	EFO	6	EFO	disposition	Adenoid Cystic Breast Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	5409018	\N	\N	EFO	7	EFO	material property	Adenoid Cystic Breast Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000071	"An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." []	6147553	\N	\N	EFO	8	EFO	experimental factor	Adenoid Cystic Breast Carcinoma
EFO:1000072	\N	\N	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	EFO:1000072	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	69676	\N	\N	EFO	0	EFO	Adenomatoid Odontogenic Tumor	Adenomatoid Odontogenic Tumor
EFO:0005570	EFO:1000072	\N	"A gastrointestinal system cancer that is located_in the oral cavity." []	EFO:1000072	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	211836	\N	\N	EFO	1	EFO	oral cavity cancer	Adenomatoid Odontogenic Tumor
EFO:0000311	EFO:0005570	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000072	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	565138	\N	\N	EFO	2	EFO	cancer	Adenomatoid Odontogenic Tumor
EFO:0005950	EFO:0005570	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000072	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	565139	\N	\N	EFO	2	EFO	head and neck neoplasia	Adenomatoid Odontogenic Tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000072	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	1146334	\N	\N	EFO	3	EFO	neoplasm	Adenomatoid Odontogenic Tumor
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000072	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	1146335	\N	\N	EFO	3	EFO	head disease	Adenomatoid Odontogenic Tumor
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000072	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	1146336	\N	\N	EFO	3	EFO	neoplasm	Adenomatoid Odontogenic Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000072	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	2028741	\N	\N	EFO	4	EFO	disease	Adenomatoid Odontogenic Tumor
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000072	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	2028742	\N	\N	EFO	4	EFO	disease	Adenomatoid Odontogenic Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000072	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	3179866	\N	\N	EFO	5	EFO	disposition	Adenomatoid Odontogenic Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000072	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	4388848	\N	\N	EFO	6	EFO	material property	Adenomatoid Odontogenic Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000072	"A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." []	5409019	\N	\N	EFO	7	EFO	experimental factor	Adenomatoid Odontogenic Tumor
EFO:1000073	\N	\N	"A carcinoma composed of malignant glandular cells and malignant squamous cells." []	EFO:1000073	"A carcinoma composed of malignant glandular cells and malignant squamous cells." []	69677	\N	\N	EFO	0	EFO	Adenosquamous Carcinoma	Adenosquamous Carcinoma
EFO:0000313	EFO:1000073	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000073	"A carcinoma composed of malignant glandular cells and malignant squamous cells." []	211837	\N	\N	EFO	1	EFO	carcinoma	Adenosquamous Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000073	"A carcinoma composed of malignant glandular cells and malignant squamous cells." []	565140	\N	\N	EFO	2	EFO	cancer	Adenosquamous Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000073	"A carcinoma composed of malignant glandular cells and malignant squamous cells." []	565141	\N	\N	EFO	2	EFO	epithelial neoplasm	Adenosquamous Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000073	"A carcinoma composed of malignant glandular cells and malignant squamous cells." []	1146337	\N	\N	EFO	3	EFO	neoplasm	Adenosquamous Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000073	"A carcinoma composed of malignant glandular cells and malignant squamous cells." []	1146338	\N	\N	EFO	3	EFO	neoplasm	Adenosquamous Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000073	"A carcinoma composed of malignant glandular cells and malignant squamous cells." []	2028743	\N	\N	EFO	4	EFO	disease	Adenosquamous Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000073	"A carcinoma composed of malignant glandular cells and malignant squamous cells." []	3179867	\N	\N	EFO	5	EFO	disposition	Adenosquamous Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000073	"A carcinoma composed of malignant glandular cells and malignant squamous cells." []	4388849	\N	\N	EFO	6	EFO	material property	Adenosquamous Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000073	"A carcinoma composed of malignant glandular cells and malignant squamous cells." []	5409020	\N	\N	EFO	7	EFO	experimental factor	Adenosquamous Carcinoma
EFO:1000074	\N	\N	"A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." []	EFO:1000074	"A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." []	69678	\N	\N	EFO	0	EFO	Adrenal Gland Myelolipoma	Adrenal Gland Myelolipoma
EFO:0003850	EFO:1000074	\N	"Tumors or cancer of the ADRENAL GLANDS." []	EFO:1000074	"A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." []	211838	\N	\N	EFO	1	EFO	adrenal gland neoplasm	Adrenal Gland Myelolipoma
EFO:0000616	EFO:0003850	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000074	"A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." []	565142	\N	\N	EFO	2	EFO	neoplasm	Adrenal Gland Myelolipoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000074	"A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." []	1146339	\N	\N	EFO	3	EFO	disease	Adrenal Gland Myelolipoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000074	"A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." []	2028744	\N	\N	EFO	4	EFO	disposition	Adrenal Gland Myelolipoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000074	"A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." []	3179868	\N	\N	EFO	5	EFO	material property	Adrenal Gland Myelolipoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000074	"A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." []	4388850	\N	\N	EFO	6	EFO	experimental factor	Adrenal Gland Myelolipoma
EFO:1000075	\N	\N	"A neuroblastoma arising from the adrenal gland." []	EFO:1000075	"A neuroblastoma arising from the adrenal gland." []	69679	\N	\N	EFO	0	EFO	Adrenal Gland Neuroblastoma	Adrenal Gland Neuroblastoma
EFO:0000621	EFO:1000075	\N	"A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." []	EFO:1000075	"A neuroblastoma arising from the adrenal gland." []	211839	\N	\N	EFO	1	EFO	neuroblastoma	Adrenal Gland Neuroblastoma
EFO:0003850	EFO:1000075	\N	"Tumors or cancer of the ADRENAL GLANDS." []	EFO:1000075	"A neuroblastoma arising from the adrenal gland." []	211840	\N	\N	EFO	1	EFO	adrenal gland neoplasm	Adrenal Gland Neuroblastoma
EFO:0000616	EFO:0000621	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000075	"A neuroblastoma arising from the adrenal gland." []	565143	\N	\N	EFO	2	EFO	neoplasm	Adrenal Gland Neuroblastoma
EFO:0000616	EFO:0003850	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000075	"A neuroblastoma arising from the adrenal gland." []	565144	\N	\N	EFO	2	EFO	neoplasm	Adrenal Gland Neuroblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000075	"A neuroblastoma arising from the adrenal gland." []	1146340	\N	\N	EFO	3	EFO	disease	Adrenal Gland Neuroblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000075	"A neuroblastoma arising from the adrenal gland." []	2028745	\N	\N	EFO	4	EFO	disposition	Adrenal Gland Neuroblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000075	"A neuroblastoma arising from the adrenal gland." []	3179869	\N	\N	EFO	5	EFO	material property	Adrenal Gland Neuroblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000075	"A neuroblastoma arising from the adrenal gland." []	4388851	\N	\N	EFO	6	EFO	experimental factor	Adrenal Gland Neuroblastoma
EFO:1000076	\N	\N	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C35838&ns=NCI_Thesaurus" []	EFO:1000076	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C35838&ns=NCI_Thesaurus" []	69680	\N	\N	EFO	0	EFO	Adrenal Medullary Hyperplasia	Adrenal Medullary Hyperplasia
EFO:0000536	EFO:1000076	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1000076	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C35838&ns=NCI_Thesaurus" []	211841	\N	\N	EFO	1	EFO	hyperplasia	Adrenal Medullary Hyperplasia
EFO:0001379	EFO:1000076	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000076	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C35838&ns=NCI_Thesaurus" []	211842	\N	\N	EFO	1	EFO	endocrine system disease	Adrenal Medullary Hyperplasia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000076	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C35838&ns=NCI_Thesaurus" []	565145	\N	\N	EFO	2	EFO	disease	Adrenal Medullary Hyperplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000076	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C35838&ns=NCI_Thesaurus" []	565146	\N	\N	EFO	2	EFO	disease	Adrenal Medullary Hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000076	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C35838&ns=NCI_Thesaurus" []	1146341	\N	\N	EFO	3	EFO	disposition	Adrenal Medullary Hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000076	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C35838&ns=NCI_Thesaurus" []	2028746	\N	\N	EFO	4	EFO	material property	Adrenal Medullary Hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000076	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C35838&ns=NCI_Thesaurus" []	3179870	\N	\N	EFO	5	EFO	experimental factor	Adrenal Medullary Hyperplasia
EFO:1000077	\N	\N	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	69681	\N	\N	EFO	0	EFO	AIDS-Related Primary Central Nervous System Lymphoma	AIDS-Related Primary Central Nervous System Lymphoma
EFO:0000326	EFO:1000077	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	211843	\N	\N	EFO	1	EFO	central nervous system cancer	AIDS-Related Primary Central Nervous System Lymphoma
EFO:0000574	EFO:1000077	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	211844	\N	\N	EFO	1	EFO	lymphoma	AIDS-Related Primary Central Nervous System Lymphoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	565147	\N	\N	EFO	2	EFO	cancer	AIDS-Related Primary Central Nervous System Lymphoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	565148	\N	\N	EFO	2	EFO	nervous system disease	AIDS-Related Primary Central Nervous System Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	565149	\N	\N	EFO	2	EFO	lymphoid neoplasm	AIDS-Related Primary Central Nervous System Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	2028749	\N	\N	EFO	4	EFO	neoplasm	AIDS-Related Primary Central Nervous System Lymphoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	1146343	\N	\N	EFO	3	EFO	disease	AIDS-Related Primary Central Nervous System Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	1146344	\N	\N	EFO	3	EFO	cancer	AIDS-Related Primary Central Nervous System Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	1146345	\N	\N	EFO	3	EFO	hematological system disease	AIDS-Related Primary Central Nervous System Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	2999931	\N	\N	EFO	5	EFO	disease	AIDS-Related Primary Central Nervous System Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	4132813	\N	\N	EFO	6	EFO	disposition	AIDS-Related Primary Central Nervous System Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	2028750	\N	\N	EFO	4	EFO	disease	AIDS-Related Primary Central Nervous System Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	5059389	\N	\N	EFO	7	EFO	material property	AIDS-Related Primary Central Nervous System Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000077	"A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." []	5876560	\N	\N	EFO	8	EFO	experimental factor	AIDS-Related Primary Central Nervous System Lymphoma
EFO:1000078	\N	\N	"A rare, cytologically malignant ameloblastoma that may metastasize." []	EFO:1000078	"A rare, cytologically malignant ameloblastoma that may metastasize." []	69682	\N	\N	EFO	0	EFO	Ameloblastic Carcinoma	Ameloblastic Carcinoma
EFO:0000313	EFO:1000078	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000078	"A rare, cytologically malignant ameloblastoma that may metastasize." []	211845	\N	\N	EFO	1	EFO	carcinoma	Ameloblastic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000078	"A rare, cytologically malignant ameloblastoma that may metastasize." []	565150	\N	\N	EFO	2	EFO	cancer	Ameloblastic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000078	"A rare, cytologically malignant ameloblastoma that may metastasize." []	565151	\N	\N	EFO	2	EFO	epithelial neoplasm	Ameloblastic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000078	"A rare, cytologically malignant ameloblastoma that may metastasize." []	1146346	\N	\N	EFO	3	EFO	neoplasm	Ameloblastic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000078	"A rare, cytologically malignant ameloblastoma that may metastasize." []	1146347	\N	\N	EFO	3	EFO	neoplasm	Ameloblastic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000078	"A rare, cytologically malignant ameloblastoma that may metastasize." []	2028751	\N	\N	EFO	4	EFO	disease	Ameloblastic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000078	"A rare, cytologically malignant ameloblastoma that may metastasize." []	3179873	\N	\N	EFO	5	EFO	disposition	Ameloblastic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000078	"A rare, cytologically malignant ameloblastoma that may metastasize." []	4388853	\N	\N	EFO	6	EFO	material property	Ameloblastic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000078	"A rare, cytologically malignant ameloblastoma that may metastasize." []	5409021	\N	\N	EFO	7	EFO	experimental factor	Ameloblastic Carcinoma
EFO:1000079	\N	\N	"A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." []	EFO:1000079	"A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." []	69683	\N	\N	EFO	0	EFO	Ampulla of Vater Carcinoma	Ampulla of Vater Carcinoma
EFO:0000313	EFO:1000079	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000079	"A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." []	211846	\N	\N	EFO	1	EFO	carcinoma	Ampulla of Vater Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000079	"A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." []	565152	\N	\N	EFO	2	EFO	cancer	Ampulla of Vater Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000079	"A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." []	565153	\N	\N	EFO	2	EFO	epithelial neoplasm	Ampulla of Vater Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000079	"A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." []	1146348	\N	\N	EFO	3	EFO	neoplasm	Ampulla of Vater Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000079	"A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." []	1146349	\N	\N	EFO	3	EFO	neoplasm	Ampulla of Vater Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000079	"A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." []	2028752	\N	\N	EFO	4	EFO	disease	Ampulla of Vater Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000079	"A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." []	3179874	\N	\N	EFO	5	EFO	disposition	Ampulla of Vater Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000079	"A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." []	4388854	\N	\N	EFO	6	EFO	material property	Ampulla of Vater Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000079	"A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." []	5409022	\N	\N	EFO	7	EFO	experimental factor	Ampulla of Vater Carcinoma
EFO:1000080	\N	\N	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	69684	\N	\N	EFO	0	EFO	Anal Melanoma	Anal Melanoma
EFO:0000756	EFO:1000080	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	211847	\N	\N	EFO	1	EFO	melanoma	Anal Melanoma
EFO:0003835	EFO:1000080	\N	"Tumors or cancer of the ANAL CANAL." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	211848	\N	\N	EFO	1	EFO	anal neoplasm	Anal Melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	565154	\N	\N	EFO	2	EFO	carcinoma	Anal Melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	565155	\N	\N	EFO	2	EFO	skin neoplasm	Anal Melanoma
EFO:0000616	EFO:0003835	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	565156	\N	\N	EFO	2	EFO	neoplasm	Anal Melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	1146350	\N	\N	EFO	3	EFO	cancer	Anal Melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	1146351	\N	\N	EFO	3	EFO	epithelial neoplasm	Anal Melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	1146352	\N	\N	EFO	3	EFO	neoplasm	Anal Melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	1146353	\N	\N	EFO	3	EFO	skin disease	Anal Melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	3179875	\N	\N	EFO	5	EFO	disease	Anal Melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	2028753	\N	\N	EFO	4	EFO	neoplasm	Anal Melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	2028754	\N	\N	EFO	4	EFO	neoplasm	Anal Melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	2028756	\N	\N	EFO	4	EFO	disease	Anal Melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	4066740	\N	\N	EFO	6	EFO	disposition	Anal Melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	5059390	\N	\N	EFO	7	EFO	material property	Anal Melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000080	"A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." []	5876561	\N	\N	EFO	8	EFO	experimental factor	Anal Melanoma
EFO:1000081	\N	\N	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	69685	\N	\N	EFO	0	EFO	Anal Squamous Cell Carcinoma	Anal Squamous Cell Carcinoma
EFO:0000707	EFO:1000081	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	211849	\N	\N	EFO	1	EFO	squamous cell carcinoma	Anal Squamous Cell Carcinoma
EFO:0003835	EFO:1000081	\N	"Tumors or cancer of the ANAL CANAL." []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	211850	\N	\N	EFO	1	EFO	anal neoplasm	Anal Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	565157	\N	\N	EFO	2	EFO	carcinoma	Anal Squamous Cell Carcinoma
EFO:0000616	EFO:0003835	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	565158	\N	\N	EFO	2	EFO	neoplasm	Anal Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	1146355	\N	\N	EFO	3	EFO	cancer	Anal Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	1146356	\N	\N	EFO	3	EFO	epithelial neoplasm	Anal Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	3179877	\N	\N	EFO	5	EFO	disease	Anal Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	2028758	\N	\N	EFO	4	EFO	neoplasm	Anal Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	2028759	\N	\N	EFO	4	EFO	neoplasm	Anal Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	4066741	\N	\N	EFO	6	EFO	disposition	Anal Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	5059391	\N	\N	EFO	7	EFO	material property	Anal Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000081	"A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." []	5876562	\N	\N	EFO	8	EFO	experimental factor	Anal Squamous Cell Carcinoma
EFO:1000082	\N	\N	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	69686	\N	\N	EFO	0	EFO	Anaplastic (Malignant) Meningioma	Anaplastic (Malignant) Meningioma
Orphanet:2495	EFO:1000082	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	211851	\N	\N	EFO	1	EFO	Meningioma	Anaplastic (Malignant) Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	565159	\N	\N	EFO	2	EFO	endocrine neoplasm	Anaplastic (Malignant) Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	565160	\N	\N	EFO	2	EFO	meningeal neoplasm	Anaplastic (Malignant) Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	1146358	\N	\N	EFO	3	EFO	neoplasm	Anaplastic (Malignant) Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	1146359	\N	\N	EFO	3	EFO	endocrine system disease	Anaplastic (Malignant) Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	1146360	\N	\N	EFO	3	EFO	brain neoplasm	Anaplastic (Malignant) Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	3179880	\N	\N	EFO	5	EFO	disease	Anaplastic (Malignant) Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	2028762	\N	\N	EFO	4	EFO	disease	Anaplastic (Malignant) Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	2028763	\N	\N	EFO	4	EFO	neoplasm	Anaplastic (Malignant) Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	2028764	\N	\N	EFO	4	EFO	brain disease	Anaplastic (Malignant) Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	5409024	\N	\N	EFO	7	EFO	disposition	Anaplastic (Malignant) Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	3179881	\N	\N	EFO	5	EFO	nervous system disease	Anaplastic (Malignant) Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	5876563	\N	\N	EFO	8	EFO	material property	Anaplastic (Malignant) Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	4388858	\N	\N	EFO	6	EFO	disease	Anaplastic (Malignant) Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000082	"A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." []	6469838	\N	\N	EFO	9	EFO	experimental factor	Anaplastic (Malignant) Meningioma
EFO:1000083	\N	\N	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	EFO:1000083	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	69687	\N	\N	EFO	0	EFO	Anaplastic Large Cell Lymphoma, ALK-Negative	Anaplastic Large Cell Lymphoma, ALK-Negative
EFO:0003032	EFO:1000083	\N	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	EFO:1000083	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	211852	\N	\N	EFO	1	EFO	anaplastic large cell lymphoma	Anaplastic Large Cell Lymphoma, ALK-Negative
EFO:0002426	EFO:0003032	\N	"a neoplasm arising from mature T-cells or natural killer cells" []	EFO:1000083	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	565161	\N	\N	EFO	2	EFO	neoplasm of mature T-cells or NK-cells	Anaplastic Large Cell Lymphoma, ALK-Negative
EFO:0001642	EFO:0002426	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000083	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	1146361	\N	\N	EFO	3	EFO	lymphoid neoplasm	Anaplastic Large Cell Lymphoma, ALK-Negative
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000083	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	2028765	\N	\N	EFO	4	EFO	cancer	Anaplastic Large Cell Lymphoma, ALK-Negative
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000083	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	2028766	\N	\N	EFO	4	EFO	hematological system disease	Anaplastic Large Cell Lymphoma, ALK-Negative
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000083	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	3179882	\N	\N	EFO	5	EFO	neoplasm	Anaplastic Large Cell Lymphoma, ALK-Negative
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000083	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	3179883	\N	\N	EFO	5	EFO	disease	Anaplastic Large Cell Lymphoma, ALK-Negative
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000083	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	4388859	\N	\N	EFO	6	EFO	disease	Anaplastic Large Cell Lymphoma, ALK-Negative
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000083	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	5409025	\N	\N	EFO	7	EFO	disposition	Anaplastic Large Cell Lymphoma, ALK-Negative
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000083	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	5996644	\N	\N	EFO	8	EFO	material property	Anaplastic Large Cell Lymphoma, ALK-Negative
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000083	"A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." []	6550388	\N	\N	EFO	9	EFO	experimental factor	Anaplastic Large Cell Lymphoma, ALK-Negative
EFO:1000084	\N	\N	"A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." []	EFO:1000084	"A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." []	69688	\N	\N	EFO	0	EFO	Angioleiomyoma	Angioleiomyoma
EFO:0000616	EFO:1000084	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000084	"A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." []	211853	\N	\N	EFO	1	EFO	neoplasm	Angioleiomyoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000084	"A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." []	565162	\N	\N	EFO	2	EFO	disease	Angioleiomyoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000084	"A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." []	1146362	\N	\N	EFO	3	EFO	disposition	Angioleiomyoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000084	"A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." []	2028767	\N	\N	EFO	4	EFO	material property	Angioleiomyoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000084	"A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." []	3179884	\N	\N	EFO	5	EFO	experimental factor	Angioleiomyoma
EFO:1000085	\N	\N	"A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." []	EFO:1000085	"A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." []	69689	\N	\N	EFO	0	EFO	Angiolipoma	Angiolipoma
EFO:0000759	EFO:1000085	\N	"A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." []	EFO:1000085	"A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." []	211854	\N	\N	EFO	1	EFO	lipoma	Angiolipoma
EFO:0002422	EFO:0000759	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000085	"A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." []	565163	\N	\N	EFO	2	EFO	benign neoplasm	Angiolipoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000085	"A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." []	1146363	\N	\N	EFO	3	EFO	neoplasm	Angiolipoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000085	"A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." []	2028768	\N	\N	EFO	4	EFO	disease	Angiolipoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000085	"A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." []	3179885	\N	\N	EFO	5	EFO	disposition	Angiolipoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000085	"A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." []	4388861	\N	\N	EFO	6	EFO	material property	Angiolipoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000085	"A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." []	5409027	\N	\N	EFO	7	EFO	experimental factor	Angiolipoma
EFO:1000086	\N	\N	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	69690	\N	\N	EFO	0	EFO	Angiomatous Meningioma	Angiomatous Meningioma
Orphanet:2495	EFO:1000086	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	211855	\N	\N	EFO	1	EFO	Meningioma	Angiomatous Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	565164	\N	\N	EFO	2	EFO	endocrine neoplasm	Angiomatous Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	565165	\N	\N	EFO	2	EFO	meningeal neoplasm	Angiomatous Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	1146364	\N	\N	EFO	3	EFO	neoplasm	Angiomatous Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	1146365	\N	\N	EFO	3	EFO	endocrine system disease	Angiomatous Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	1146366	\N	\N	EFO	3	EFO	brain neoplasm	Angiomatous Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	3179887	\N	\N	EFO	5	EFO	disease	Angiomatous Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	2028770	\N	\N	EFO	4	EFO	disease	Angiomatous Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	2028771	\N	\N	EFO	4	EFO	neoplasm	Angiomatous Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	2028772	\N	\N	EFO	4	EFO	brain disease	Angiomatous Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	5409029	\N	\N	EFO	7	EFO	disposition	Angiomatous Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	3179888	\N	\N	EFO	5	EFO	nervous system disease	Angiomatous Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	5876564	\N	\N	EFO	8	EFO	material property	Angiomatous Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	4388863	\N	\N	EFO	6	EFO	disease	Angiomatous Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000086	"A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." []	6469839	\N	\N	EFO	9	EFO	experimental factor	Angiomatous Meningioma
EFO:1000087	\N	\N	"A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." []	EFO:1000087	"A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." []	69691	\N	\N	EFO	0	EFO	Angiomyxoma	Angiomyxoma
EFO:0000616	EFO:1000087	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000087	"A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." []	211856	\N	\N	EFO	1	EFO	neoplasm	Angiomyxoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000087	"A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." []	565166	\N	\N	EFO	2	EFO	disease	Angiomyxoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000087	"A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." []	1146367	\N	\N	EFO	3	EFO	disposition	Angiomyxoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000087	"A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." []	2028773	\N	\N	EFO	4	EFO	material property	Angiomyxoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000087	"A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." []	3179889	\N	\N	EFO	5	EFO	experimental factor	Angiomyxoma
EFO:1000088	\N	\N	"A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population." []	EFO:1000088	"A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population." []	69692	\N	\N	EFO	0	EFO	Appendix Adenocarcinoma	Appendix Adenocarcinoma
EFO:0000228	EFO:1000088	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000088	"A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population." []	211857	\N	\N	EFO	1	EFO	adenocarcinoma	Appendix Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000088	"A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population." []	565167	\N	\N	EFO	2	EFO	carcinoma	Appendix Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000088	"A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population." []	1146368	\N	\N	EFO	3	EFO	cancer	Appendix Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000088	"A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population." []	1146369	\N	\N	EFO	3	EFO	epithelial neoplasm	Appendix Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000088	"A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population." []	2028774	\N	\N	EFO	4	EFO	neoplasm	Appendix Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000088	"A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population." []	2028775	\N	\N	EFO	4	EFO	neoplasm	Appendix Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000088	"A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population." []	3179890	\N	\N	EFO	5	EFO	disease	Appendix Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000088	"A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population." []	4388864	\N	\N	EFO	6	EFO	disposition	Appendix Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000088	"A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population." []	5409030	\N	\N	EFO	7	EFO	material property	Appendix Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000088	"A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population." []	6147555	\N	\N	EFO	8	EFO	experimental factor	Appendix Adenocarcinoma
EFO:1000089	\N	\N	"A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." []	EFO:1000089	"A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." []	69693	\N	\N	EFO	0	EFO	Appendix Adenoma	Appendix Adenoma
EFO:0000232	EFO:1000089	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000089	"A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." []	211858	\N	\N	EFO	1	EFO	adenoma	Appendix Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000089	"A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." []	565168	\N	\N	EFO	2	EFO	benign neoplasm	Appendix Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000089	"A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." []	1146370	\N	\N	EFO	3	EFO	neoplasm	Appendix Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000089	"A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." []	2028776	\N	\N	EFO	4	EFO	disease	Appendix Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000089	"A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." []	3179891	\N	\N	EFO	5	EFO	disposition	Appendix Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000089	"A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." []	4388865	\N	\N	EFO	6	EFO	material property	Appendix Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000089	"A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." []	5409031	\N	\N	EFO	7	EFO	experimental factor	Appendix Adenoma
EFO:1000090	\N	\N	"An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." []	EFO:1000090	"An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." []	69694	\N	\N	EFO	0	EFO	Appendix Goblet Cell Carcinoid	Appendix Goblet Cell Carcinoid
EFO:0000313	EFO:1000090	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000090	"An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." []	211859	\N	\N	EFO	1	EFO	carcinoma	Appendix Goblet Cell Carcinoid
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000090	"An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." []	565169	\N	\N	EFO	2	EFO	cancer	Appendix Goblet Cell Carcinoid
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000090	"An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." []	565170	\N	\N	EFO	2	EFO	epithelial neoplasm	Appendix Goblet Cell Carcinoid
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000090	"An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." []	1146371	\N	\N	EFO	3	EFO	neoplasm	Appendix Goblet Cell Carcinoid
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000090	"An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." []	1146372	\N	\N	EFO	3	EFO	neoplasm	Appendix Goblet Cell Carcinoid
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000090	"An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." []	2028777	\N	\N	EFO	4	EFO	disease	Appendix Goblet Cell Carcinoid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000090	"An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." []	3179892	\N	\N	EFO	5	EFO	disposition	Appendix Goblet Cell Carcinoid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000090	"An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." []	4388866	\N	\N	EFO	6	EFO	material property	Appendix Goblet Cell Carcinoid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000090	"An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." []	5409032	\N	\N	EFO	7	EFO	experimental factor	Appendix Goblet Cell Carcinoid
EFO:1000091	\N	\N	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	EFO:1000091	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	69695	\N	\N	EFO	0	EFO	Appendix Hyperplastic Polyp	Appendix Hyperplastic Polyp
EFO:0000662	EFO:1000091	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000091	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	211860	\N	\N	EFO	1	EFO	polyp	Appendix Hyperplastic Polyp
EFO:0003880	EFO:1000091	\N	"Tumors or cancer of the APPENDIX." []	EFO:1000091	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	211861	\N	\N	EFO	1	EFO	appendiceal neoplasm	Appendix Hyperplastic Polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000091	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	565171	\N	\N	EFO	2	EFO	neoplasm	Appendix Hyperplastic Polyp
EFO:0004288	EFO:0003880	\N	"Tumors or cancer of the COLON." []	EFO:1000091	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	565172	\N	\N	EFO	2	EFO	colonic neoplasm	Appendix Hyperplastic Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000091	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	2028780	\N	\N	EFO	4	EFO	disease	Appendix Hyperplastic Polyp
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000091	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	1146374	\N	\N	EFO	3	EFO	digestive system disease	Appendix Hyperplastic Polyp
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000091	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	1146375	\N	\N	EFO	3	EFO	neoplasm	Appendix Hyperplastic Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000091	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	2999933	\N	\N	EFO	5	EFO	disposition	Appendix Hyperplastic Polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000091	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	2028779	\N	\N	EFO	4	EFO	disease	Appendix Hyperplastic Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000091	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	4132818	\N	\N	EFO	6	EFO	material property	Appendix Hyperplastic Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000091	"A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." []	5181098	\N	\N	EFO	7	EFO	experimental factor	Appendix Hyperplastic Polyp
EFO:1000092	\N	\N	"A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	EFO:1000092	"A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	69696	\N	\N	EFO	0	EFO	Appendix Neuroendocrine Tumor G1	Appendix Neuroendocrine Tumor G1
EFO:0004243	EFO:1000092	\N	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	EFO:1000092	"A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	211862	\N	\N	EFO	1	EFO	carcinoid tumor	Appendix Neuroendocrine Tumor G1
EFO:0000616	EFO:0004243	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000092	"A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565173	\N	\N	EFO	2	EFO	neoplasm	Appendix Neuroendocrine Tumor G1
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000092	"A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146376	\N	\N	EFO	3	EFO	disease	Appendix Neuroendocrine Tumor G1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000092	"A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	2028781	\N	\N	EFO	4	EFO	disposition	Appendix Neuroendocrine Tumor G1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000092	"A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	3179894	\N	\N	EFO	5	EFO	material property	Appendix Neuroendocrine Tumor G1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000092	"A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	4388868	\N	\N	EFO	6	EFO	experimental factor	Appendix Neuroendocrine Tumor G1
EFO:1000093	\N	\N	"An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." []	EFO:1000093	"An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." []	69697	\N	\N	EFO	0	EFO	Appendix Villous Adenoma	Appendix Villous Adenoma
EFO:0000232	EFO:1000093	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000093	"An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." []	211863	\N	\N	EFO	1	EFO	adenoma	Appendix Villous Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000093	"An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." []	565174	\N	\N	EFO	2	EFO	benign neoplasm	Appendix Villous Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000093	"An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." []	1146377	\N	\N	EFO	3	EFO	neoplasm	Appendix Villous Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000093	"An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." []	2028782	\N	\N	EFO	4	EFO	disease	Appendix Villous Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000093	"An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." []	3179895	\N	\N	EFO	5	EFO	disposition	Appendix Villous Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000093	"An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." []	4388869	\N	\N	EFO	6	EFO	material property	Appendix Villous Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000093	"An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." []	5409033	\N	\N	EFO	7	EFO	experimental factor	Appendix Villous Adenoma
EFO:1000094	\N	\N	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	EFO:1000094	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	69698	\N	\N	EFO	0	EFO	Ascending Colon Neuroendocrine Tumor G1	Ascending Colon Neuroendocrine Tumor G1
EFO:0004243	EFO:1000094	\N	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	EFO:1000094	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	211864	\N	\N	EFO	1	EFO	carcinoid tumor	Ascending Colon Neuroendocrine Tumor G1
EFO:0004288	EFO:1000094	\N	"Tumors or cancer of the COLON." []	EFO:1000094	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	211865	\N	\N	EFO	1	EFO	colonic neoplasm	Ascending Colon Neuroendocrine Tumor G1
EFO:0000616	EFO:0004243	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000094	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565175	\N	\N	EFO	2	EFO	neoplasm	Ascending Colon Neuroendocrine Tumor G1
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000094	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565176	\N	\N	EFO	2	EFO	digestive system disease	Ascending Colon Neuroendocrine Tumor G1
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000094	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565177	\N	\N	EFO	2	EFO	neoplasm	Ascending Colon Neuroendocrine Tumor G1
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000094	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146378	\N	\N	EFO	3	EFO	disease	Ascending Colon Neuroendocrine Tumor G1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000094	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146379	\N	\N	EFO	3	EFO	disease	Ascending Colon Neuroendocrine Tumor G1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000094	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	2028783	\N	\N	EFO	4	EFO	disposition	Ascending Colon Neuroendocrine Tumor G1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000094	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	3179896	\N	\N	EFO	5	EFO	material property	Ascending Colon Neuroendocrine Tumor G1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000094	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	4388870	\N	\N	EFO	6	EFO	experimental factor	Ascending Colon Neuroendocrine Tumor G1
EFO:1000095	\N	\N	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	69699	\N	\N	EFO	0	EFO	Askin Tumor	Askin Tumor
EFO:0005235	EFO:1000095	\N	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	211866	\N	\N	EFO	1	EFO	primitive neuroectodermal tumor	Askin Tumor
EFO:0003833	EFO:0005235	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	565178	\N	\N	EFO	2	EFO	brain neoplasm	Askin Tumor
EFO:0005784	EFO:0005235	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	565179	\N	\N	EFO	2	EFO	embryonal neoplasm	Askin Tumor
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	1146380	\N	\N	EFO	3	EFO	neoplasm	Askin Tumor
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	1146381	\N	\N	EFO	3	EFO	brain disease	Askin Tumor
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	1146382	\N	\N	EFO	3	EFO	neoplasm	Askin Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	2028784	\N	\N	EFO	4	EFO	disease	Askin Tumor
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	2028785	\N	\N	EFO	4	EFO	nervous system disease	Askin Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	4388872	\N	\N	EFO	6	EFO	disposition	Askin Tumor
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	3179898	\N	\N	EFO	5	EFO	disease	Askin Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	5181099	\N	\N	EFO	7	EFO	material property	Askin Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000095	"A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." []	5996646	\N	\N	EFO	8	EFO	experimental factor	Askin Tumor
EFO:1000096	\N	\N	"Any weakening or degeneration, especially through lack of use." []	EFO:1000096	"Any weakening or degeneration, especially through lack of use." []	69700	\N	\N	EFO	0	EFO	Atrophy	Atrophy
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	EFO:1000096	"Any weakening or degeneration, especially through lack of use." []	194942	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	Atrophy
EFO:1000097	\N	\N	"A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." []	EFO:1000097	"A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." []	69701	\N	\N	EFO	0	EFO	Atypical Carcinoid Tumor	Atypical Carcinoid Tumor
EFO:0004243	EFO:1000097	\N	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	EFO:1000097	"A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." []	211867	\N	\N	EFO	1	EFO	carcinoid tumor	Atypical Carcinoid Tumor
EFO:0000616	EFO:0004243	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000097	"A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." []	565180	\N	\N	EFO	2	EFO	neoplasm	Atypical Carcinoid Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000097	"A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." []	1146383	\N	\N	EFO	3	EFO	disease	Atypical Carcinoid Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000097	"A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." []	2028786	\N	\N	EFO	4	EFO	disposition	Atypical Carcinoid Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000097	"A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." []	3179899	\N	\N	EFO	5	EFO	material property	Atypical Carcinoid Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000097	"A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." []	4388873	\N	\N	EFO	6	EFO	experimental factor	Atypical Carcinoid Tumor
EFO:1000098	\N	\N	"An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." []	EFO:1000098	"An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." []	69702	\N	\N	EFO	0	EFO	Atypical Endometrial Hyperplasia	Atypical Endometrial Hyperplasia
EFO:0000512	EFO:1000098	\N	"any diease of the reproductive system" []	EFO:1000098	"An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." []	211868	\N	\N	EFO	1	EFO	reproductive system disease	Atypical Endometrial Hyperplasia
EFO:0000536	EFO:1000098	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1000098	"An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." []	211869	\N	\N	EFO	1	EFO	hyperplasia	Atypical Endometrial Hyperplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000098	"An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." []	565181	\N	\N	EFO	2	EFO	disease	Atypical Endometrial Hyperplasia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000098	"An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." []	565182	\N	\N	EFO	2	EFO	disease	Atypical Endometrial Hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000098	"An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." []	1146384	\N	\N	EFO	3	EFO	disposition	Atypical Endometrial Hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000098	"An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." []	2028787	\N	\N	EFO	4	EFO	material property	Atypical Endometrial Hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000098	"An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." []	3179900	\N	\N	EFO	5	EFO	experimental factor	Atypical Endometrial Hyperplasia
EFO:1000099	\N	\N	"An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." []	EFO:1000099	"An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." []	69703	\N	\N	EFO	0	EFO	Atypical Lipomatous Tumor	Atypical Lipomatous Tumor
EFO:0000616	EFO:1000099	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000099	"An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." []	211870	\N	\N	EFO	1	EFO	neoplasm	Atypical Lipomatous Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000099	"An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." []	565183	\N	\N	EFO	2	EFO	disease	Atypical Lipomatous Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000099	"An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." []	1146385	\N	\N	EFO	3	EFO	disposition	Atypical Lipomatous Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000099	"An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." []	2028788	\N	\N	EFO	4	EFO	material property	Atypical Lipomatous Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000099	"An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." []	3179901	\N	\N	EFO	5	EFO	experimental factor	Atypical Lipomatous Tumor
EFO:1000100	\N	\N	"Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." []	EFO:1000100	"Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." []	69704	\N	\N	EFO	0	EFO	Atypical Lobular Breast Hyperplasia	Atypical Lobular Breast Hyperplasia
EFO:0000536	EFO:1000100	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1000100	"Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." []	211871	\N	\N	EFO	1	EFO	hyperplasia	Atypical Lobular Breast Hyperplasia
EFO:0003869	EFO:1000100	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:1000100	"Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." []	211872	\N	\N	EFO	1	EFO	breast neoplasm	Atypical Lobular Breast Hyperplasia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000100	"Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." []	565184	\N	\N	EFO	2	EFO	disease	Atypical Lobular Breast Hyperplasia
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000100	"Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." []	565185	\N	\N	EFO	2	EFO	neoplasm	Atypical Lobular Breast Hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000100	"Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." []	2028790	\N	\N	EFO	4	EFO	disposition	Atypical Lobular Breast Hyperplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000100	"Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." []	1146387	\N	\N	EFO	3	EFO	disease	Atypical Lobular Breast Hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000100	"Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." []	2999934	\N	\N	EFO	5	EFO	material property	Atypical Lobular Breast Hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000100	"Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." []	4132819	\N	\N	EFO	6	EFO	experimental factor	Atypical Lobular Breast Hyperplasia
EFO:1000101	\N	\N	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	69705	\N	\N	EFO	0	EFO	Atypical Meningioma	Atypical Meningioma
Orphanet:2495	EFO:1000101	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	211873	\N	\N	EFO	1	EFO	Meningioma	Atypical Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	565186	\N	\N	EFO	2	EFO	endocrine neoplasm	Atypical Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	565187	\N	\N	EFO	2	EFO	meningeal neoplasm	Atypical Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	1146388	\N	\N	EFO	3	EFO	neoplasm	Atypical Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	1146389	\N	\N	EFO	3	EFO	endocrine system disease	Atypical Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	1146390	\N	\N	EFO	3	EFO	brain neoplasm	Atypical Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	3179904	\N	\N	EFO	5	EFO	disease	Atypical Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	2028792	\N	\N	EFO	4	EFO	disease	Atypical Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	2028793	\N	\N	EFO	4	EFO	neoplasm	Atypical Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	2028794	\N	\N	EFO	4	EFO	brain disease	Atypical Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	5409036	\N	\N	EFO	7	EFO	disposition	Atypical Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	3179905	\N	\N	EFO	5	EFO	nervous system disease	Atypical Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	5876565	\N	\N	EFO	8	EFO	material property	Atypical Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	4388875	\N	\N	EFO	6	EFO	disease	Atypical Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000101	"A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." []	6469840	\N	\N	EFO	9	EFO	experimental factor	Atypical Meningioma
EFO:1000102	\N	\N	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	EFO:1000102	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	69706	\N	\N	EFO	0	EFO	B-Cell Prolymphocytic Leukemia	B-Cell Prolymphocytic Leukemia
EFO:0004289	EFO:1000102	\N	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	EFO:1000102	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	211874	\N	\N	EFO	1	EFO	lymphoid leukemia	B-Cell Prolymphocytic Leukemia
EFO:0000565	EFO:0004289	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1000102	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	565188	\N	\N	EFO	2	EFO	leukemia	B-Cell Prolymphocytic Leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000102	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	1146391	\N	\N	EFO	3	EFO	lymphoid neoplasm	B-Cell Prolymphocytic Leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000102	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	2028795	\N	\N	EFO	4	EFO	cancer	B-Cell Prolymphocytic Leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000102	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	2028796	\N	\N	EFO	4	EFO	hematological system disease	B-Cell Prolymphocytic Leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000102	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	3179906	\N	\N	EFO	5	EFO	neoplasm	B-Cell Prolymphocytic Leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000102	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	3179907	\N	\N	EFO	5	EFO	disease	B-Cell Prolymphocytic Leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000102	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	4388876	\N	\N	EFO	6	EFO	disease	B-Cell Prolymphocytic Leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000102	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	5409037	\N	\N	EFO	7	EFO	disposition	B-Cell Prolymphocytic Leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000102	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	5996648	\N	\N	EFO	8	EFO	material property	B-Cell Prolymphocytic Leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000102	"A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" []	6550389	\N	\N	EFO	9	EFO	experimental factor	B-Cell Prolymphocytic Leukemia
EFO:1000103	\N	\N	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	69707	\N	\N	EFO	0	EFO	Bartholin Gland Carcinoma	Bartholin Gland Carcinoma
EFO:0002921	EFO:1000103	\N	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	211875	\N	\N	EFO	1	EFO	vulvar carcinoma	Bartholin Gland Carcinoma
EFO:0000313	EFO:0002921	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	565189	\N	\N	EFO	2	EFO	carcinoma	Bartholin Gland Carcinoma
EFO:0000512	EFO:0002921	\N	"any diease of the reproductive system" []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	565190	\N	\N	EFO	2	EFO	reproductive system disease	Bartholin Gland Carcinoma
EFO:0003863	EFO:0002921	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	565191	\N	\N	EFO	2	EFO	urogenital neoplasm	Bartholin Gland Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	1146392	\N	\N	EFO	3	EFO	cancer	Bartholin Gland Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	1146393	\N	\N	EFO	3	EFO	epithelial neoplasm	Bartholin Gland Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	1146394	\N	\N	EFO	3	EFO	disease	Bartholin Gland Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	1146395	\N	\N	EFO	3	EFO	neoplasm	Bartholin Gland Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	2028797	\N	\N	EFO	4	EFO	neoplasm	Bartholin Gland Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	2028798	\N	\N	EFO	4	EFO	neoplasm	Bartholin Gland Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	4132822	\N	\N	EFO	6	EFO	disposition	Bartholin Gland Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	3179908	\N	\N	EFO	5	EFO	disease	Bartholin Gland Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	5059392	\N	\N	EFO	7	EFO	material property	Bartholin Gland Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000103	"A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." []	5876566	\N	\N	EFO	8	EFO	experimental factor	Bartholin Gland Carcinoma
EFO:1000104	\N	\N	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	69708	\N	\N	EFO	0	EFO	Bartholin Gland Squamous Cell Carcinoma	Bartholin Gland Squamous Cell Carcinoma
EFO:0000707	EFO:1000104	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	211876	\N	\N	EFO	1	EFO	squamous cell carcinoma	Bartholin Gland Squamous Cell Carcinoma
EFO:0002921	EFO:1000104	\N	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	211877	\N	\N	EFO	1	EFO	vulvar carcinoma	Bartholin Gland Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	565192	\N	\N	EFO	2	EFO	carcinoma	Bartholin Gland Squamous Cell Carcinoma
EFO:0000313	EFO:0002921	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	565193	\N	\N	EFO	2	EFO	carcinoma	Bartholin Gland Squamous Cell Carcinoma
EFO:0000512	EFO:0002921	\N	"any diease of the reproductive system" []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	565194	\N	\N	EFO	2	EFO	reproductive system disease	Bartholin Gland Squamous Cell Carcinoma
EFO:0003863	EFO:0002921	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	565195	\N	\N	EFO	2	EFO	urogenital neoplasm	Bartholin Gland Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	1146396	\N	\N	EFO	3	EFO	cancer	Bartholin Gland Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	1146397	\N	\N	EFO	3	EFO	epithelial neoplasm	Bartholin Gland Squamous Cell Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	1146398	\N	\N	EFO	3	EFO	disease	Bartholin Gland Squamous Cell Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	1146399	\N	\N	EFO	3	EFO	neoplasm	Bartholin Gland Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	2028801	\N	\N	EFO	4	EFO	neoplasm	Bartholin Gland Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	2028802	\N	\N	EFO	4	EFO	neoplasm	Bartholin Gland Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	4132824	\N	\N	EFO	6	EFO	disposition	Bartholin Gland Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	3179911	\N	\N	EFO	5	EFO	disease	Bartholin Gland Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	5059393	\N	\N	EFO	7	EFO	material property	Bartholin Gland Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000104	"A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." []	5876567	\N	\N	EFO	8	EFO	experimental factor	Bartholin Gland Squamous Cell Carcinoma
EFO:1000105	\N	\N	"A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." []	EFO:1000105	"A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." []	69709	\N	\N	EFO	0	EFO	Basaloid Carcinoma	Basaloid Carcinoma
EFO:0000313	EFO:1000105	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000105	"A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." []	211878	\N	\N	EFO	1	EFO	carcinoma	Basaloid Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000105	"A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." []	565196	\N	\N	EFO	2	EFO	cancer	Basaloid Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000105	"A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." []	565197	\N	\N	EFO	2	EFO	epithelial neoplasm	Basaloid Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000105	"A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." []	1146400	\N	\N	EFO	3	EFO	neoplasm	Basaloid Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000105	"A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." []	1146401	\N	\N	EFO	3	EFO	neoplasm	Basaloid Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000105	"A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." []	2028805	\N	\N	EFO	4	EFO	disease	Basaloid Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000105	"A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." []	3179914	\N	\N	EFO	5	EFO	disposition	Basaloid Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000105	"A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." []	4388880	\N	\N	EFO	6	EFO	material property	Basaloid Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000105	"A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." []	5409039	\N	\N	EFO	7	EFO	experimental factor	Basaloid Carcinoma
EFO:1000106	\N	\N	"A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." []	EFO:1000106	"A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." []	69710	\N	\N	EFO	0	EFO	Benign Adrenal Gland Pheochromocytoma	Benign Adrenal Gland Pheochromocytoma
EFO:0000239	EFO:1000106	\N	"A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines.  It arises from the chromaffin cells of the adrenal medulla.  Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor.  Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen.  Other growth patterns including trabecular pattern may also be present." []	EFO:1000106	"A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." []	211879	\N	\N	EFO	1	EFO	adrenal gland pheochromocytoma	Benign Adrenal Gland Pheochromocytoma
EFO:0003850	EFO:0000239	\N	"Tumors or cancer of the ADRENAL GLANDS." []	EFO:1000106	"A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." []	565198	\N	\N	EFO	2	EFO	adrenal gland neoplasm	Benign Adrenal Gland Pheochromocytoma
EFO:0000616	EFO:0003850	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000106	"A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." []	1146402	\N	\N	EFO	3	EFO	neoplasm	Benign Adrenal Gland Pheochromocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000106	"A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." []	2028806	\N	\N	EFO	4	EFO	disease	Benign Adrenal Gland Pheochromocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000106	"A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." []	3179915	\N	\N	EFO	5	EFO	disposition	Benign Adrenal Gland Pheochromocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000106	"A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." []	4388881	\N	\N	EFO	6	EFO	material property	Benign Adrenal Gland Pheochromocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000106	"A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." []	5409040	\N	\N	EFO	7	EFO	experimental factor	Benign Adrenal Gland Pheochromocytoma
EFO:1000107	\N	\N	"A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors." []	EFO:1000107	"A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors." []	69711	\N	\N	EFO	0	EFO	Benign Brain Neoplasm	Benign Brain Neoplasm
EFO:0003833	EFO:1000107	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000107	"A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors." []	211880	\N	\N	EFO	1	EFO	brain neoplasm	Benign Brain Neoplasm
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000107	"A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors." []	565199	\N	\N	EFO	2	EFO	neoplasm	Benign Brain Neoplasm
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000107	"A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors." []	565200	\N	\N	EFO	2	EFO	brain disease	Benign Brain Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000107	"A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors." []	1146403	\N	\N	EFO	3	EFO	disease	Benign Brain Neoplasm
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000107	"A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors." []	1146404	\N	\N	EFO	3	EFO	nervous system disease	Benign Brain Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000107	"A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors." []	3179917	\N	\N	EFO	5	EFO	disposition	Benign Brain Neoplasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000107	"A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors." []	2028808	\N	\N	EFO	4	EFO	disease	Benign Brain Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000107	"A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors." []	4132825	\N	\N	EFO	6	EFO	material property	Benign Brain Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000107	"A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors." []	5181103	\N	\N	EFO	7	EFO	experimental factor	Benign Brain Neoplasm
EFO:1000108	\N	\N	"A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." []	EFO:1000108	"A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." []	69712	\N	\N	EFO	0	EFO	Benign Carotid Body Paraganglioma	Benign Carotid Body Paraganglioma
EFO:0000616	EFO:1000108	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000108	"A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." []	211881	\N	\N	EFO	1	EFO	neoplasm	Benign Carotid Body Paraganglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000108	"A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." []	565201	\N	\N	EFO	2	EFO	disease	Benign Carotid Body Paraganglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000108	"A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." []	1146405	\N	\N	EFO	3	EFO	disposition	Benign Carotid Body Paraganglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000108	"A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." []	2028809	\N	\N	EFO	4	EFO	material property	Benign Carotid Body Paraganglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000108	"A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." []	3179918	\N	\N	EFO	5	EFO	experimental factor	Benign Carotid Body Paraganglioma
EFO:1000109	\N	\N	"A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood." []	EFO:1000109	"A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood." []	69713	\N	\N	EFO	0	EFO	Benign Childhood Cerebral Neoplasm	Benign Childhood Cerebral Neoplasm
EFO:0003833	EFO:1000109	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000109	"A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood." []	211882	\N	\N	EFO	1	EFO	brain neoplasm	Benign Childhood Cerebral Neoplasm
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000109	"A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood." []	565202	\N	\N	EFO	2	EFO	neoplasm	Benign Childhood Cerebral Neoplasm
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000109	"A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood." []	565203	\N	\N	EFO	2	EFO	brain disease	Benign Childhood Cerebral Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000109	"A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood." []	1146406	\N	\N	EFO	3	EFO	disease	Benign Childhood Cerebral Neoplasm
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000109	"A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood." []	1146407	\N	\N	EFO	3	EFO	nervous system disease	Benign Childhood Cerebral Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000109	"A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood." []	3179920	\N	\N	EFO	5	EFO	disposition	Benign Childhood Cerebral Neoplasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000109	"A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood." []	2028811	\N	\N	EFO	4	EFO	disease	Benign Childhood Cerebral Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000109	"A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood." []	4132826	\N	\N	EFO	6	EFO	material property	Benign Childhood Cerebral Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000109	"A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood." []	5181104	\N	\N	EFO	7	EFO	experimental factor	Benign Childhood Cerebral Neoplasm
EFO:1000110	\N	\N	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	EFO:1000110	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	69714	\N	\N	EFO	0	EFO	Benign Conjunctival Neoplasm	Benign Conjunctival Neoplasm
Orphanet:98616	EFO:1000110	\N	"" []	EFO:1000110	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	211883	\N	\N	EFO	1	EFO	Conjunctival tumor	Benign Conjunctival Neoplasm
Orphanet:98610	Orphanet:98616	\N	"" []	EFO:1000110	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	565204	\N	\N	EFO	2	EFO	Rare conjunctival disease	Benign Conjunctival Neoplasm
Orphanet:183598	Orphanet:98610	\N	"" []	EFO:1000110	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	1146408	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Benign Conjunctival Neoplasm
Orphanet:101435	Orphanet:183598	\N	"" []	EFO:1000110	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	2028812	\N	\N	EFO	4	EFO	Rare genetic eye disease	Benign Conjunctival Neoplasm
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000110	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	3179921	\N	\N	EFO	5	EFO	genetic disorder	Benign Conjunctival Neoplasm
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000110	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	3179922	\N	\N	EFO	5	EFO	eye disease	Benign Conjunctival Neoplasm
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000110	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	4388884	\N	\N	EFO	6	EFO	disease	Benign Conjunctival Neoplasm
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000110	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	4388885	\N	\N	EFO	6	EFO	disease	Benign Conjunctival Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000110	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	5409041	\N	\N	EFO	7	EFO	disposition	Benign Conjunctival Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000110	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	6147557	\N	\N	EFO	8	EFO	material property	Benign Conjunctival Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000110	"Abnormal growth of the cells of the conjunctiva without malignant characteristics." []	6631865	\N	\N	EFO	9	EFO	experimental factor	Benign Conjunctival Neoplasm
EFO:1000111	\N	\N	"A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." []	EFO:1000111	"A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." []	69715	\N	\N	EFO	0	EFO	Benign Kidney Neoplasm	Benign Kidney Neoplasm
EFO:0003865	EFO:1000111	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000111	"A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." []	211884	\N	\N	EFO	1	EFO	kidney neoplasm	Benign Kidney Neoplasm
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000111	"A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." []	565205	\N	\N	EFO	2	EFO	kidney disease	Benign Kidney Neoplasm
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000111	"A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." []	565206	\N	\N	EFO	2	EFO	urogenital neoplasm	Benign Kidney Neoplasm
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000111	"A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." []	1146409	\N	\N	EFO	3	EFO	disease	Benign Kidney Neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000111	"A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." []	1146410	\N	\N	EFO	3	EFO	neoplasm	Benign Kidney Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000111	"A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." []	3179924	\N	\N	EFO	5	EFO	disposition	Benign Kidney Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000111	"A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." []	2028814	\N	\N	EFO	4	EFO	disease	Benign Kidney Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000111	"A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." []	4132827	\N	\N	EFO	6	EFO	material property	Benign Kidney Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000111	"A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." []	5181105	\N	\N	EFO	7	EFO	experimental factor	Benign Kidney Neoplasm
EFO:1000112	\N	\N	"A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." []	EFO:1000112	"A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." []	69716	\N	\N	EFO	0	EFO	Benign Ovarian Brenner Tumor	Benign Ovarian Brenner Tumor
EFO:0003893	EFO:1000112	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000112	"A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." []	211885	\N	\N	EFO	1	EFO	ovarian neoplasm	Benign Ovarian Brenner Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000112	"A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." []	565207	\N	\N	EFO	2	EFO	urogenital neoplasm	Benign Ovarian Brenner Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000112	"A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." []	565208	\N	\N	EFO	2	EFO	ovarian disease	Benign Ovarian Brenner Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000112	"A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." []	1146411	\N	\N	EFO	3	EFO	neoplasm	Benign Ovarian Brenner Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000112	"A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." []	1146412	\N	\N	EFO	3	EFO	reproductive system disease	Benign Ovarian Brenner Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000112	"A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." []	2028815	\N	\N	EFO	4	EFO	disease	Benign Ovarian Brenner Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000112	"A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." []	2028816	\N	\N	EFO	4	EFO	disease	Benign Ovarian Brenner Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000112	"A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." []	3179925	\N	\N	EFO	5	EFO	disposition	Benign Ovarian Brenner Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000112	"A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." []	4388887	\N	\N	EFO	6	EFO	material property	Benign Ovarian Brenner Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000112	"A benign transitional cell tumor that arises from the ovary and is composed of a fibrotic stroma and nests of transitional cells without evidence of atypia. There is no evidence of invasion." []	5409042	\N	\N	EFO	7	EFO	experimental factor	Benign Ovarian Brenner Tumor
EFO:1000113	\N	\N	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	69717	\N	\N	EFO	0	EFO	Benign Ovarian Endometrioid Tumor	Benign Ovarian Endometrioid Tumor
EFO:0003893	EFO:1000113	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	211886	\N	\N	EFO	1	EFO	ovarian neoplasm	Benign Ovarian Endometrioid Tumor
EFO:0004230	EFO:1000113	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	211887	\N	\N	EFO	1	EFO	endometrial neoplasm	Benign Ovarian Endometrioid Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	565209	\N	\N	EFO	2	EFO	urogenital neoplasm	Benign Ovarian Endometrioid Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	565210	\N	\N	EFO	2	EFO	ovarian disease	Benign Ovarian Endometrioid Tumor
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	565211	\N	\N	EFO	2	EFO	uterine neoplasm	Benign Ovarian Endometrioid Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	2028819	\N	\N	EFO	4	EFO	neoplasm	Benign Ovarian Endometrioid Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	1146414	\N	\N	EFO	3	EFO	reproductive system disease	Benign Ovarian Endometrioid Tumor
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	1146415	\N	\N	EFO	3	EFO	reproductive system disease	Benign Ovarian Endometrioid Tumor
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	1146416	\N	\N	EFO	3	EFO	urogenital neoplasm	Benign Ovarian Endometrioid Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	2999935	\N	\N	EFO	5	EFO	disease	Benign Ovarian Endometrioid Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	2028818	\N	\N	EFO	4	EFO	disease	Benign Ovarian Endometrioid Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	4132828	\N	\N	EFO	6	EFO	disposition	Benign Ovarian Endometrioid Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	5181106	\N	\N	EFO	7	EFO	material property	Benign Ovarian Endometrioid Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000113	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma." []	5996649	\N	\N	EFO	8	EFO	experimental factor	Benign Ovarian Endometrioid Tumor
EFO:1000114	\N	\N	"A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." []	EFO:1000114	"A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." []	69718	\N	\N	EFO	0	EFO	Benign Ovarian Mixed Epithelial Tumor	Benign Ovarian Mixed Epithelial Tumor
EFO:0003893	EFO:1000114	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000114	"A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." []	211888	\N	\N	EFO	1	EFO	ovarian neoplasm	Benign Ovarian Mixed Epithelial Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000114	"A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." []	565212	\N	\N	EFO	2	EFO	urogenital neoplasm	Benign Ovarian Mixed Epithelial Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000114	"A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." []	565213	\N	\N	EFO	2	EFO	ovarian disease	Benign Ovarian Mixed Epithelial Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000114	"A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." []	1146417	\N	\N	EFO	3	EFO	neoplasm	Benign Ovarian Mixed Epithelial Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000114	"A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." []	1146418	\N	\N	EFO	3	EFO	reproductive system disease	Benign Ovarian Mixed Epithelial Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000114	"A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." []	2028820	\N	\N	EFO	4	EFO	disease	Benign Ovarian Mixed Epithelial Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000114	"A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." []	2028821	\N	\N	EFO	4	EFO	disease	Benign Ovarian Mixed Epithelial Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000114	"A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." []	3179927	\N	\N	EFO	5	EFO	disposition	Benign Ovarian Mixed Epithelial Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000114	"A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." []	4388889	\N	\N	EFO	6	EFO	material property	Benign Ovarian Mixed Epithelial Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000114	"A non-metastasizing neoplasm that arises from the ovary and is composed of at least two of the following cell types, serous, mucinous, endometrioid, transitional, or clear cell." []	5409044	\N	\N	EFO	7	EFO	experimental factor	Benign Ovarian Mixed Epithelial Tumor
EFO:1000115	\N	\N	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." []	EFO:1000115	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." []	69719	\N	\N	EFO	0	EFO	Benign Ovarian Mucinous Tumor	Benign Ovarian Mucinous Tumor
EFO:0003893	EFO:1000115	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000115	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." []	211889	\N	\N	EFO	1	EFO	ovarian neoplasm	Benign Ovarian Mucinous Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000115	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." []	565214	\N	\N	EFO	2	EFO	urogenital neoplasm	Benign Ovarian Mucinous Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000115	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." []	565215	\N	\N	EFO	2	EFO	ovarian disease	Benign Ovarian Mucinous Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000115	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." []	1146419	\N	\N	EFO	3	EFO	neoplasm	Benign Ovarian Mucinous Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000115	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." []	1146420	\N	\N	EFO	3	EFO	reproductive system disease	Benign Ovarian Mucinous Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000115	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." []	2028822	\N	\N	EFO	4	EFO	disease	Benign Ovarian Mucinous Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000115	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." []	2028823	\N	\N	EFO	4	EFO	disease	Benign Ovarian Mucinous Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000115	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." []	3179928	\N	\N	EFO	5	EFO	disposition	Benign Ovarian Mucinous Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000115	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." []	4388890	\N	\N	EFO	6	EFO	material property	Benign Ovarian Mucinous Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000115	"A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." []	5409045	\N	\N	EFO	7	EFO	experimental factor	Benign Ovarian Mucinous Tumor
EFO:1000116	\N	\N	"A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." []	EFO:1000116	"A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." []	69720	\N	\N	EFO	0	EFO	Benign Ovarian Neoplasm	Benign Ovarian Neoplasm
EFO:0003893	EFO:1000116	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000116	"A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." []	211890	\N	\N	EFO	1	EFO	ovarian neoplasm	Benign Ovarian Neoplasm
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000116	"A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." []	565216	\N	\N	EFO	2	EFO	urogenital neoplasm	Benign Ovarian Neoplasm
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000116	"A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." []	565217	\N	\N	EFO	2	EFO	ovarian disease	Benign Ovarian Neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000116	"A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." []	1146421	\N	\N	EFO	3	EFO	neoplasm	Benign Ovarian Neoplasm
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000116	"A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." []	1146422	\N	\N	EFO	3	EFO	reproductive system disease	Benign Ovarian Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000116	"A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." []	2028824	\N	\N	EFO	4	EFO	disease	Benign Ovarian Neoplasm
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000116	"A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." []	2028825	\N	\N	EFO	4	EFO	disease	Benign Ovarian Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000116	"A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." []	3179929	\N	\N	EFO	5	EFO	disposition	Benign Ovarian Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000116	"A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." []	4388891	\N	\N	EFO	6	EFO	material property	Benign Ovarian Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000116	"A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." []	5409046	\N	\N	EFO	7	EFO	experimental factor	Benign Ovarian Neoplasm
EFO:1000117	\N	\N	"A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." []	EFO:1000117	"A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." []	69721	\N	\N	EFO	0	EFO	Benign Ovarian Surface Epithelial-Stromal Tumor	Benign Ovarian Surface Epithelial-Stromal Tumor
EFO:0003893	EFO:1000117	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000117	"A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." []	211891	\N	\N	EFO	1	EFO	ovarian neoplasm	Benign Ovarian Surface Epithelial-Stromal Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000117	"A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." []	565218	\N	\N	EFO	2	EFO	urogenital neoplasm	Benign Ovarian Surface Epithelial-Stromal Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000117	"A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." []	565219	\N	\N	EFO	2	EFO	ovarian disease	Benign Ovarian Surface Epithelial-Stromal Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000117	"A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." []	1146423	\N	\N	EFO	3	EFO	neoplasm	Benign Ovarian Surface Epithelial-Stromal Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000117	"A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." []	1146424	\N	\N	EFO	3	EFO	reproductive system disease	Benign Ovarian Surface Epithelial-Stromal Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000117	"A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." []	2028826	\N	\N	EFO	4	EFO	disease	Benign Ovarian Surface Epithelial-Stromal Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000117	"A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." []	2028827	\N	\N	EFO	4	EFO	disease	Benign Ovarian Surface Epithelial-Stromal Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000117	"A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." []	3179930	\N	\N	EFO	5	EFO	disposition	Benign Ovarian Surface Epithelial-Stromal Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000117	"A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." []	4388892	\N	\N	EFO	6	EFO	material property	Benign Ovarian Surface Epithelial-Stromal Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000117	"A non-metastasizing neoplasm that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor." []	5409047	\N	\N	EFO	7	EFO	experimental factor	Benign Ovarian Surface Epithelial-Stromal Tumor
EFO:1000118	\N	\N	"A non-metastasizing neoplasm that arises from the renal pelvis. Urothelial papilloma is a representative example." []	EFO:1000118	"A non-metastasizing neoplasm that arises from the renal pelvis. Urothelial papilloma is a representative example." []	69722	\N	\N	EFO	0	EFO	Benign Renal Pelvis Neoplasm	Benign Renal Pelvis Neoplasm
EFO:0003865	EFO:1000118	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000118	"A non-metastasizing neoplasm that arises from the renal pelvis. Urothelial papilloma is a representative example." []	211892	\N	\N	EFO	1	EFO	kidney neoplasm	Benign Renal Pelvis Neoplasm
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000118	"A non-metastasizing neoplasm that arises from the renal pelvis. Urothelial papilloma is a representative example." []	565220	\N	\N	EFO	2	EFO	kidney disease	Benign Renal Pelvis Neoplasm
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000118	"A non-metastasizing neoplasm that arises from the renal pelvis. Urothelial papilloma is a representative example." []	565221	\N	\N	EFO	2	EFO	urogenital neoplasm	Benign Renal Pelvis Neoplasm
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000118	"A non-metastasizing neoplasm that arises from the renal pelvis. Urothelial papilloma is a representative example." []	1146425	\N	\N	EFO	3	EFO	disease	Benign Renal Pelvis Neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000118	"A non-metastasizing neoplasm that arises from the renal pelvis. Urothelial papilloma is a representative example." []	1146426	\N	\N	EFO	3	EFO	neoplasm	Benign Renal Pelvis Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000118	"A non-metastasizing neoplasm that arises from the renal pelvis. Urothelial papilloma is a representative example." []	3179932	\N	\N	EFO	5	EFO	disposition	Benign Renal Pelvis Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000118	"A non-metastasizing neoplasm that arises from the renal pelvis. Urothelial papilloma is a representative example." []	2028829	\N	\N	EFO	4	EFO	disease	Benign Renal Pelvis Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000118	"A non-metastasizing neoplasm that arises from the renal pelvis. Urothelial papilloma is a representative example." []	4132829	\N	\N	EFO	6	EFO	material property	Benign Renal Pelvis Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000118	"A non-metastasizing neoplasm that arises from the renal pelvis. Urothelial papilloma is a representative example." []	5181107	\N	\N	EFO	7	EFO	experimental factor	Benign Renal Pelvis Neoplasm
EFO:1000119	\N	\N	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	EFO:1000119	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	69723	\N	\N	EFO	0	EFO	Benign Salivary Gland Myoepithelioma	Benign Salivary Gland Myoepithelioma
EFO:0003826	EFO:1000119	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000119	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	211893	\N	\N	EFO	1	EFO	salivary gland neoplasm	Benign Salivary Gland Myoepithelioma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000119	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	565222	\N	\N	EFO	2	EFO	digestive system disease	Benign Salivary Gland Myoepithelioma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000119	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	565223	\N	\N	EFO	2	EFO	head and neck neoplasia	Benign Salivary Gland Myoepithelioma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000119	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	1146427	\N	\N	EFO	3	EFO	disease	Benign Salivary Gland Myoepithelioma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000119	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	1146428	\N	\N	EFO	3	EFO	head disease	Benign Salivary Gland Myoepithelioma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000119	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	1146429	\N	\N	EFO	3	EFO	neoplasm	Benign Salivary Gland Myoepithelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000119	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	3179934	\N	\N	EFO	5	EFO	disposition	Benign Salivary Gland Myoepithelioma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000119	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	2028831	\N	\N	EFO	4	EFO	disease	Benign Salivary Gland Myoepithelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000119	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	2028832	\N	\N	EFO	4	EFO	disease	Benign Salivary Gland Myoepithelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000119	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	4132830	\N	\N	EFO	6	EFO	material property	Benign Salivary Gland Myoepithelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000119	"A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." []	5181108	\N	\N	EFO	7	EFO	experimental factor	Benign Salivary Gland Myoepithelioma
EFO:1000120	\N	\N	"A non-metastasizing neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma." []	EFO:1000120	"A non-metastasizing neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma." []	69724	\N	\N	EFO	0	EFO	Benign Skin Appendage Neoplasm	Benign Skin Appendage Neoplasm
EFO:0004198	EFO:1000120	\N	"Tumors or cancer of the SKIN." []	EFO:1000120	"A non-metastasizing neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma." []	211894	\N	\N	EFO	1	EFO	skin neoplasm	Benign Skin Appendage Neoplasm
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000120	"A non-metastasizing neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma." []	565224	\N	\N	EFO	2	EFO	neoplasm	Benign Skin Appendage Neoplasm
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000120	"A non-metastasizing neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma." []	565225	\N	\N	EFO	2	EFO	skin disease	Benign Skin Appendage Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000120	"A non-metastasizing neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma." []	1146430	\N	\N	EFO	3	EFO	disease	Benign Skin Appendage Neoplasm
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000120	"A non-metastasizing neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma." []	1146431	\N	\N	EFO	3	EFO	disease	Benign Skin Appendage Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000120	"A non-metastasizing neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma." []	2028833	\N	\N	EFO	4	EFO	disposition	Benign Skin Appendage Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000120	"A non-metastasizing neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma." []	3179935	\N	\N	EFO	5	EFO	material property	Benign Skin Appendage Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000120	"A non-metastasizing neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma." []	4388895	\N	\N	EFO	6	EFO	experimental factor	Benign Skin Appendage Neoplasm
EFO:1000121	\N	\N	"A benign mesenchymal neoplasm arising from smooth muscle tissue." []	EFO:1000121	"A benign mesenchymal neoplasm arising from smooth muscle tissue." []	69725	\N	\N	EFO	0	EFO	Benign Smooth Muscle Neoplasm	Benign Smooth Muscle Neoplasm
EFO:0000616	EFO:1000121	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000121	"A benign mesenchymal neoplasm arising from smooth muscle tissue." []	211895	\N	\N	EFO	1	EFO	neoplasm	Benign Smooth Muscle Neoplasm
EFO:0002970	EFO:1000121	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1000121	"A benign mesenchymal neoplasm arising from smooth muscle tissue." []	211896	\N	\N	EFO	1	EFO	muscular disease	Benign Smooth Muscle Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000121	"A benign mesenchymal neoplasm arising from smooth muscle tissue." []	565226	\N	\N	EFO	2	EFO	disease	Benign Smooth Muscle Neoplasm
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1000121	"A benign mesenchymal neoplasm arising from smooth muscle tissue." []	565227	\N	\N	EFO	2	EFO	skeletal system disease	Benign Smooth Muscle Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000121	"A benign mesenchymal neoplasm arising from smooth muscle tissue." []	2028835	\N	\N	EFO	4	EFO	disposition	Benign Smooth Muscle Neoplasm
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000121	"A benign mesenchymal neoplasm arising from smooth muscle tissue." []	1146433	\N	\N	EFO	3	EFO	disease	Benign Smooth Muscle Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000121	"A benign mesenchymal neoplasm arising from smooth muscle tissue." []	2999936	\N	\N	EFO	5	EFO	material property	Benign Smooth Muscle Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000121	"A benign mesenchymal neoplasm arising from smooth muscle tissue." []	4132831	\N	\N	EFO	6	EFO	experimental factor	Benign Smooth Muscle Neoplasm
EFO:1000122	\N	\N	"A benign neoplasm arising from the thyroid gland." []	EFO:1000122	"A benign neoplasm arising from the thyroid gland." []	69726	\N	\N	EFO	0	EFO	Benign Thyroid Gland Neoplasm	Benign Thyroid Gland Neoplasm
EFO:0003841	EFO:1000122	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1000122	"A benign neoplasm arising from the thyroid gland." []	211897	\N	\N	EFO	1	EFO	thyroid neoplasm	Benign Thyroid Gland Neoplasm
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000122	"A benign neoplasm arising from the thyroid gland." []	565228	\N	\N	EFO	2	EFO	endocrine neoplasm	Benign Thyroid Gland Neoplasm
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000122	"A benign neoplasm arising from the thyroid gland." []	565229	\N	\N	EFO	2	EFO	thyroid disease	Benign Thyroid Gland Neoplasm
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000122	"A benign neoplasm arising from the thyroid gland." []	1146434	\N	\N	EFO	3	EFO	neoplasm	Benign Thyroid Gland Neoplasm
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000122	"A benign neoplasm arising from the thyroid gland." []	1146435	\N	\N	EFO	3	EFO	endocrine system disease	Benign Thyroid Gland Neoplasm
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000122	"A benign neoplasm arising from the thyroid gland." []	1146436	\N	\N	EFO	3	EFO	endocrine system disease	Benign Thyroid Gland Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000122	"A benign neoplasm arising from the thyroid gland." []	2028836	\N	\N	EFO	4	EFO	disease	Benign Thyroid Gland Neoplasm
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000122	"A benign neoplasm arising from the thyroid gland." []	2028837	\N	\N	EFO	4	EFO	disease	Benign Thyroid Gland Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000122	"A benign neoplasm arising from the thyroid gland." []	3179937	\N	\N	EFO	5	EFO	disposition	Benign Thyroid Gland Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000122	"A benign neoplasm arising from the thyroid gland." []	4388896	\N	\N	EFO	6	EFO	material property	Benign Thyroid Gland Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000122	"A benign neoplasm arising from the thyroid gland." []	5409048	\N	\N	EFO	7	EFO	experimental factor	Benign Thyroid Gland Neoplasm
EFO:1000123	\N	\N	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	69727	\N	\N	EFO	0	EFO	Bile Duct Adenoma	Bile Duct Adenoma
EFO:0000232	EFO:1000123	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	211898	\N	\N	EFO	1	EFO	adenoma	Bile Duct Adenoma
EFO:1001513	EFO:1000123	\N	"Tumors or cancers of the LIVER." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	211899	\N	\N	EFO	1	EFO	liver neoplasm	Bile Duct Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	565230	\N	\N	EFO	2	EFO	benign neoplasm	Bile Duct Adenoma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	565231	\N	\N	EFO	2	EFO	liver disease	Bile Duct Adenoma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	565232	\N	\N	EFO	2	EFO	endocrine neoplasm	Bile Duct Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	1146437	\N	\N	EFO	3	EFO	neoplasm	Bile Duct Adenoma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	1146438	\N	\N	EFO	3	EFO	digestive system disease	Bile Duct Adenoma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	1146439	\N	\N	EFO	3	EFO	endocrine system disease	Bile Duct Adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	1146440	\N	\N	EFO	3	EFO	neoplasm	Bile Duct Adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	1146441	\N	\N	EFO	3	EFO	endocrine system disease	Bile Duct Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	2028838	\N	\N	EFO	4	EFO	disease	Bile Duct Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	2028839	\N	\N	EFO	4	EFO	disease	Bile Duct Adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	2028840	\N	\N	EFO	4	EFO	disease	Bile Duct Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	3179938	\N	\N	EFO	5	EFO	disposition	Bile Duct Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	4388897	\N	\N	EFO	6	EFO	material property	Bile Duct Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000123	"A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." []	5409049	\N	\N	EFO	7	EFO	experimental factor	Bile Duct Adenoma
EFO:1000124	\N	\N	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	EFO:1000124	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	69728	\N	\N	EFO	0	EFO	Biphasic Mesothelioma	Biphasic Mesothelioma
EFO:0000588	EFO:1000124	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:1000124	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	211900	\N	\N	EFO	1	EFO	mesothelioma	Biphasic Mesothelioma
EFO:0003853	EFO:1000124	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000124	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	211901	\N	\N	EFO	1	EFO	respiratory system neoplasm	Biphasic Mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000124	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	565233	\N	\N	EFO	2	EFO	cancer	Biphasic Mesothelioma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000124	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	565234	\N	\N	EFO	2	EFO	neoplasm	Biphasic Mesothelioma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000124	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	565235	\N	\N	EFO	2	EFO	respiratory system disease	Biphasic Mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000124	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	1146442	\N	\N	EFO	3	EFO	neoplasm	Biphasic Mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000124	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	2028841	\N	\N	EFO	4	EFO	disease	Biphasic Mesothelioma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000124	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	1146444	\N	\N	EFO	3	EFO	disease	Biphasic Mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000124	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	2999937	\N	\N	EFO	5	EFO	disposition	Biphasic Mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000124	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	4132832	\N	\N	EFO	6	EFO	material property	Biphasic Mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000124	"A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." []	5181109	\N	\N	EFO	7	EFO	experimental factor	Biphasic Mesothelioma
EFO:1000125	\N	\N	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	69729	\N	\N	EFO	0	EFO	Bladder Adenocarcinoma	Bladder Adenocarcinoma
EFO:0000228	EFO:1000125	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	211902	\N	\N	EFO	1	EFO	adenocarcinoma	Bladder Adenocarcinoma
EFO:0000292	EFO:1000125	\N	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	211903	\N	\N	EFO	1	EFO	bladder carcinoma	Bladder Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	565236	\N	\N	EFO	2	EFO	carcinoma	Bladder Adenocarcinoma
EFO:0000313	EFO:0000292	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	565237	\N	\N	EFO	2	EFO	carcinoma	Bladder Adenocarcinoma
EFO:1000018	EFO:0000292	\N	"A disorder affecting the urinary bladder" []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	565238	\N	\N	EFO	2	EFO	bladder disease	Bladder Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	1146445	\N	\N	EFO	3	EFO	cancer	Bladder Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	1146446	\N	\N	EFO	3	EFO	epithelial neoplasm	Bladder Adenocarcinoma
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	1146447	\N	\N	EFO	3	EFO	disease	Bladder Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	2028843	\N	\N	EFO	4	EFO	neoplasm	Bladder Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	2028844	\N	\N	EFO	4	EFO	neoplasm	Bladder Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	4388899	\N	\N	EFO	6	EFO	disposition	Bladder Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	3179940	\N	\N	EFO	5	EFO	disease	Bladder Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	5059394	\N	\N	EFO	7	EFO	material property	Bladder Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000125	"A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder." []	5876568	\N	\N	EFO	8	EFO	experimental factor	Bladder Adenocarcinoma
EFO:1000126	\N	\N	"A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." []	EFO:1000126	"A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." []	69730	\N	\N	EFO	0	EFO	Bladder Flat Intraepithelial Lesion	Bladder Flat Intraepithelial Lesion
EFO:0000616	EFO:1000126	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000126	"A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." []	211904	\N	\N	EFO	1	EFO	neoplasm	Bladder Flat Intraepithelial Lesion
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000126	"A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." []	565239	\N	\N	EFO	2	EFO	disease	Bladder Flat Intraepithelial Lesion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000126	"A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." []	1146448	\N	\N	EFO	3	EFO	disposition	Bladder Flat Intraepithelial Lesion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000126	"A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." []	2028846	\N	\N	EFO	4	EFO	material property	Bladder Flat Intraepithelial Lesion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000126	"A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." []	3179942	\N	\N	EFO	5	EFO	experimental factor	Bladder Flat Intraepithelial Lesion
EFO:1000127	\N	\N	"A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	EFO:1000127	"A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	69731	\N	\N	EFO	0	EFO	Bladder Inflammatory Myofibroblastic Tumor	Bladder Inflammatory Myofibroblastic Tumor
EFO:0000616	EFO:1000127	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000127	"A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	211905	\N	\N	EFO	1	EFO	neoplasm	Bladder Inflammatory Myofibroblastic Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000127	"A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	565240	\N	\N	EFO	2	EFO	disease	Bladder Inflammatory Myofibroblastic Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000127	"A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	1146449	\N	\N	EFO	3	EFO	disposition	Bladder Inflammatory Myofibroblastic Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000127	"A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	2028847	\N	\N	EFO	4	EFO	material property	Bladder Inflammatory Myofibroblastic Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000127	"A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	3179943	\N	\N	EFO	5	EFO	experimental factor	Bladder Inflammatory Myofibroblastic Tumor
EFO:1000128	\N	\N	"A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria." []	EFO:1000128	"A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria." []	69732	\N	\N	EFO	0	EFO	Bladder Paraganglioma	Bladder Paraganglioma
EFO:0000489	EFO:1000128	\N	"A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland.  Clinical symptoms are related to secretion of catecholamines.  Representative examples include the superior and inferior paraaortic and bladder paragangliomas." []	EFO:1000128	"A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria." []	211906	\N	\N	EFO	1	EFO	extra-adrenal sympathetic paraganglioma	Bladder Paraganglioma
EFO:0003769	EFO:0000489	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000128	"A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria." []	565241	\N	\N	EFO	2	EFO	endocrine neoplasm	Bladder Paraganglioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000128	"A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria." []	1146450	\N	\N	EFO	3	EFO	neoplasm	Bladder Paraganglioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000128	"A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria." []	1146451	\N	\N	EFO	3	EFO	endocrine system disease	Bladder Paraganglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000128	"A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria." []	2028848	\N	\N	EFO	4	EFO	disease	Bladder Paraganglioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000128	"A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria." []	2028849	\N	\N	EFO	4	EFO	disease	Bladder Paraganglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000128	"A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria." []	3179944	\N	\N	EFO	5	EFO	disposition	Bladder Paraganglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000128	"A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria." []	4388901	\N	\N	EFO	6	EFO	material property	Bladder Paraganglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000128	"A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria." []	5409050	\N	\N	EFO	7	EFO	experimental factor	Bladder Paraganglioma
EFO:1000129	\N	\N	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	69733	\N	\N	EFO	0	EFO	Bladder Small Cell Neuroendocrine Carcinoma	Bladder Small Cell Neuroendocrine Carcinoma
EFO:0000292	EFO:1000129	\N	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	211907	\N	\N	EFO	1	EFO	bladder carcinoma	Bladder Small Cell Neuroendocrine Carcinoma
EFO:0000313	EFO:0000292	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	565242	\N	\N	EFO	2	EFO	carcinoma	Bladder Small Cell Neuroendocrine Carcinoma
EFO:1000018	EFO:0000292	\N	"A disorder affecting the urinary bladder" []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	565243	\N	\N	EFO	2	EFO	bladder disease	Bladder Small Cell Neuroendocrine Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	1146452	\N	\N	EFO	3	EFO	cancer	Bladder Small Cell Neuroendocrine Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	1146453	\N	\N	EFO	3	EFO	epithelial neoplasm	Bladder Small Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	1146454	\N	\N	EFO	3	EFO	disease	Bladder Small Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	2028850	\N	\N	EFO	4	EFO	neoplasm	Bladder Small Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	2028851	\N	\N	EFO	4	EFO	neoplasm	Bladder Small Cell Neuroendocrine Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	4388902	\N	\N	EFO	6	EFO	disposition	Bladder Small Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	3179945	\N	\N	EFO	5	EFO	disease	Bladder Small Cell Neuroendocrine Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	5059395	\N	\N	EFO	7	EFO	material property	Bladder Small Cell Neuroendocrine Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000129	"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." []	5876569	\N	\N	EFO	8	EFO	experimental factor	Bladder Small Cell Neuroendocrine Carcinoma
EFO:1000130	\N	\N	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	69734	\N	\N	EFO	0	EFO	Bladder Squamous Cell Carcinoma	Bladder Squamous Cell Carcinoma
EFO:0000292	EFO:1000130	\N	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	211908	\N	\N	EFO	1	EFO	bladder carcinoma	Bladder Squamous Cell Carcinoma
EFO:0000707	EFO:1000130	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	211909	\N	\N	EFO	1	EFO	squamous cell carcinoma	Bladder Squamous Cell Carcinoma
EFO:0000313	EFO:0000292	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	565244	\N	\N	EFO	2	EFO	carcinoma	Bladder Squamous Cell Carcinoma
EFO:1000018	EFO:0000292	\N	"A disorder affecting the urinary bladder" []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	565245	\N	\N	EFO	2	EFO	bladder disease	Bladder Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	565246	\N	\N	EFO	2	EFO	carcinoma	Bladder Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	1146455	\N	\N	EFO	3	EFO	cancer	Bladder Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	1146456	\N	\N	EFO	3	EFO	epithelial neoplasm	Bladder Squamous Cell Carcinoma
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	1146457	\N	\N	EFO	3	EFO	disease	Bladder Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	2028853	\N	\N	EFO	4	EFO	neoplasm	Bladder Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	2028854	\N	\N	EFO	4	EFO	neoplasm	Bladder Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	4388904	\N	\N	EFO	6	EFO	disposition	Bladder Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	3179947	\N	\N	EFO	5	EFO	disease	Bladder Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	5059396	\N	\N	EFO	7	EFO	material property	Bladder Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000130	"A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." []	5876570	\N	\N	EFO	8	EFO	experimental factor	Bladder Squamous Cell Carcinoma
EFO:1000131	\N	\N	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	69735	\N	\N	EFO	0	EFO	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
EFO:0000565	EFO:1000131	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	211910	\N	\N	EFO	1	EFO	leukemia	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
EFO:0002427	EFO:1000131	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	211911	\N	\N	EFO	1	EFO	myeloid neoplasm	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	565247	\N	\N	EFO	2	EFO	lymphoid neoplasm	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	565248	\N	\N	EFO	2	EFO	lymphoid neoplasm	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	1146458	\N	\N	EFO	3	EFO	cancer	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	1146459	\N	\N	EFO	3	EFO	hematological system disease	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	2028856	\N	\N	EFO	4	EFO	neoplasm	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	2028857	\N	\N	EFO	4	EFO	disease	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	3179949	\N	\N	EFO	5	EFO	disease	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	4388906	\N	\N	EFO	6	EFO	disposition	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	5181110	\N	\N	EFO	7	EFO	material property	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000131	"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." []	5996650	\N	\N	EFO	8	EFO	experimental factor	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
EFO:1000132	\N	\N	"A bone hemangioma characterized by the presence of epithelioid endothelial cells, and eosinophilic and lymphocytic infiltrates." []	EFO:1000132	"A bone hemangioma characterized by the presence of epithelioid endothelial cells, and eosinophilic and lymphocytic infiltrates." []	69736	\N	\N	EFO	0	EFO	Bone Epithelioid Hemangioma	Bone Epithelioid Hemangioma
EFO:0003820	EFO:1000132	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1000132	"A bone hemangioma characterized by the presence of epithelioid endothelial cells, and eosinophilic and lymphocytic infiltrates." []	211912	\N	\N	EFO	1	EFO	bone neoplasm	Bone Epithelioid Hemangioma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000132	"A bone hemangioma characterized by the presence of epithelioid endothelial cells, and eosinophilic and lymphocytic infiltrates." []	565249	\N	\N	EFO	2	EFO	neoplasm	Bone Epithelioid Hemangioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000132	"A bone hemangioma characterized by the presence of epithelioid endothelial cells, and eosinophilic and lymphocytic infiltrates." []	1146460	\N	\N	EFO	3	EFO	disease	Bone Epithelioid Hemangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000132	"A bone hemangioma characterized by the presence of epithelioid endothelial cells, and eosinophilic and lymphocytic infiltrates." []	2028858	\N	\N	EFO	4	EFO	disposition	Bone Epithelioid Hemangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000132	"A bone hemangioma characterized by the presence of epithelioid endothelial cells, and eosinophilic and lymphocytic infiltrates." []	3179951	\N	\N	EFO	5	EFO	material property	Bone Epithelioid Hemangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000132	"A bone hemangioma characterized by the presence of epithelioid endothelial cells, and eosinophilic and lymphocytic infiltrates." []	4388908	\N	\N	EFO	6	EFO	experimental factor	Bone Epithelioid Hemangioma
EFO:1000133	\N	\N	"A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms." []	EFO:1000133	"A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms." []	69737	\N	\N	EFO	0	EFO	Borderline Exocrine Pancreatic Neoplasm	Borderline Exocrine Pancreatic Neoplasm
EFO:0003860	EFO:1000133	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000133	"A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms." []	211913	\N	\N	EFO	1	EFO	pancreatic neoplasm	Borderline Exocrine Pancreatic Neoplasm
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000133	"A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms." []	565250	\N	\N	EFO	2	EFO	endocrine neoplasm	Borderline Exocrine Pancreatic Neoplasm
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000133	"A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms." []	1146461	\N	\N	EFO	3	EFO	neoplasm	Borderline Exocrine Pancreatic Neoplasm
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000133	"A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms." []	1146462	\N	\N	EFO	3	EFO	endocrine system disease	Borderline Exocrine Pancreatic Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000133	"A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms." []	2028859	\N	\N	EFO	4	EFO	disease	Borderline Exocrine Pancreatic Neoplasm
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000133	"A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms." []	2028860	\N	\N	EFO	4	EFO	disease	Borderline Exocrine Pancreatic Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000133	"A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms." []	3179952	\N	\N	EFO	5	EFO	disposition	Borderline Exocrine Pancreatic Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000133	"A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms." []	4388909	\N	\N	EFO	6	EFO	material property	Borderline Exocrine Pancreatic Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000133	"A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms." []	5409052	\N	\N	EFO	7	EFO	experimental factor	Borderline Exocrine Pancreatic Neoplasm
EFO:1000134	\N	\N	"A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion." []	EFO:1000134	"A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion." []	69738	\N	\N	EFO	0	EFO	Borderline Fallopian Tube Serous Neoplasm	Borderline Fallopian Tube Serous Neoplasm
EFO:0003859	EFO:1000134	\N	"Tumors or cancer of the UTERUS." []	EFO:1000134	"A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion." []	211914	\N	\N	EFO	1	EFO	uterine neoplasm	Borderline Fallopian Tube Serous Neoplasm
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000134	"A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion." []	565251	\N	\N	EFO	2	EFO	reproductive system disease	Borderline Fallopian Tube Serous Neoplasm
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000134	"A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion." []	565252	\N	\N	EFO	2	EFO	urogenital neoplasm	Borderline Fallopian Tube Serous Neoplasm
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000134	"A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion." []	1146463	\N	\N	EFO	3	EFO	disease	Borderline Fallopian Tube Serous Neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000134	"A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion." []	1146464	\N	\N	EFO	3	EFO	neoplasm	Borderline Fallopian Tube Serous Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000134	"A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion." []	3179954	\N	\N	EFO	5	EFO	disposition	Borderline Fallopian Tube Serous Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000134	"A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion." []	2028862	\N	\N	EFO	4	EFO	disease	Borderline Fallopian Tube Serous Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000134	"A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion." []	4132833	\N	\N	EFO	6	EFO	material property	Borderline Fallopian Tube Serous Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000134	"A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion." []	5181111	\N	\N	EFO	7	EFO	experimental factor	Borderline Fallopian Tube Serous Neoplasm
EFO:1000135	\N	\N	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." []	EFO:1000135	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." []	69739	\N	\N	EFO	0	EFO	Borderline Ovarian Brenner Tumor	Borderline Ovarian Brenner Tumor
EFO:0003893	EFO:1000135	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000135	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." []	211915	\N	\N	EFO	1	EFO	ovarian neoplasm	Borderline Ovarian Brenner Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000135	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." []	565253	\N	\N	EFO	2	EFO	urogenital neoplasm	Borderline Ovarian Brenner Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000135	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." []	565254	\N	\N	EFO	2	EFO	ovarian disease	Borderline Ovarian Brenner Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000135	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." []	1146465	\N	\N	EFO	3	EFO	neoplasm	Borderline Ovarian Brenner Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000135	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." []	1146466	\N	\N	EFO	3	EFO	reproductive system disease	Borderline Ovarian Brenner Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000135	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." []	2028863	\N	\N	EFO	4	EFO	disease	Borderline Ovarian Brenner Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000135	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." []	2028864	\N	\N	EFO	4	EFO	disease	Borderline Ovarian Brenner Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000135	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." []	3179955	\N	\N	EFO	5	EFO	disposition	Borderline Ovarian Brenner Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000135	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." []	4388911	\N	\N	EFO	6	EFO	material property	Borderline Ovarian Brenner Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000135	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion." []	5409053	\N	\N	EFO	7	EFO	experimental factor	Borderline Ovarian Brenner Tumor
EFO:1000136	\N	\N	"An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." []	EFO:1000136	"An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." []	69740	\N	\N	EFO	0	EFO	Borderline Ovarian Clear Cell Tumor	Borderline Ovarian Clear Cell Tumor
EFO:0003893	EFO:1000136	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000136	"An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." []	211916	\N	\N	EFO	1	EFO	ovarian neoplasm	Borderline Ovarian Clear Cell Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000136	"An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." []	565255	\N	\N	EFO	2	EFO	urogenital neoplasm	Borderline Ovarian Clear Cell Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000136	"An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." []	565256	\N	\N	EFO	2	EFO	ovarian disease	Borderline Ovarian Clear Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000136	"An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." []	1146467	\N	\N	EFO	3	EFO	neoplasm	Borderline Ovarian Clear Cell Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000136	"An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." []	1146468	\N	\N	EFO	3	EFO	reproductive system disease	Borderline Ovarian Clear Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000136	"An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." []	2028865	\N	\N	EFO	4	EFO	disease	Borderline Ovarian Clear Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000136	"An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." []	2028866	\N	\N	EFO	4	EFO	disease	Borderline Ovarian Clear Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000136	"An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." []	3179956	\N	\N	EFO	5	EFO	disposition	Borderline Ovarian Clear Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000136	"An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." []	4388912	\N	\N	EFO	6	EFO	material property	Borderline Ovarian Clear Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000136	"An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion." []	5409054	\N	\N	EFO	7	EFO	experimental factor	Borderline Ovarian Clear Cell Tumor
EFO:1000137	\N	\N	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." []	EFO:1000137	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." []	69741	\N	\N	EFO	0	EFO	Borderline Ovarian Endometrioid Tumor	Borderline Ovarian Endometrioid Tumor
EFO:0003893	EFO:1000137	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000137	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." []	211917	\N	\N	EFO	1	EFO	ovarian neoplasm	Borderline Ovarian Endometrioid Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000137	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." []	565257	\N	\N	EFO	2	EFO	urogenital neoplasm	Borderline Ovarian Endometrioid Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000137	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." []	565258	\N	\N	EFO	2	EFO	ovarian disease	Borderline Ovarian Endometrioid Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000137	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." []	1146469	\N	\N	EFO	3	EFO	neoplasm	Borderline Ovarian Endometrioid Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000137	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." []	1146470	\N	\N	EFO	3	EFO	reproductive system disease	Borderline Ovarian Endometrioid Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000137	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." []	2028867	\N	\N	EFO	4	EFO	disease	Borderline Ovarian Endometrioid Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000137	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." []	2028868	\N	\N	EFO	4	EFO	disease	Borderline Ovarian Endometrioid Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000137	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." []	3179957	\N	\N	EFO	5	EFO	disposition	Borderline Ovarian Endometrioid Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000137	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." []	4388913	\N	\N	EFO	6	EFO	material property	Borderline Ovarian Endometrioid Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000137	"A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion." []	5409055	\N	\N	EFO	7	EFO	experimental factor	Borderline Ovarian Endometrioid Tumor
EFO:1000138	\N	\N	"A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." []	EFO:1000138	"A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." []	69742	\N	\N	EFO	0	EFO	Borderline Ovarian Mucinous Tumor	Borderline Ovarian Mucinous Tumor
EFO:0003893	EFO:1000138	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000138	"A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." []	211918	\N	\N	EFO	1	EFO	ovarian neoplasm	Borderline Ovarian Mucinous Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000138	"A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." []	565259	\N	\N	EFO	2	EFO	urogenital neoplasm	Borderline Ovarian Mucinous Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000138	"A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." []	565260	\N	\N	EFO	2	EFO	ovarian disease	Borderline Ovarian Mucinous Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000138	"A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." []	1146471	\N	\N	EFO	3	EFO	neoplasm	Borderline Ovarian Mucinous Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000138	"A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." []	1146472	\N	\N	EFO	3	EFO	reproductive system disease	Borderline Ovarian Mucinous Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000138	"A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." []	2028869	\N	\N	EFO	4	EFO	disease	Borderline Ovarian Mucinous Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000138	"A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." []	2028870	\N	\N	EFO	4	EFO	disease	Borderline Ovarian Mucinous Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000138	"A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." []	3179958	\N	\N	EFO	5	EFO	disposition	Borderline Ovarian Mucinous Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000138	"A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." []	4388914	\N	\N	EFO	6	EFO	material property	Borderline Ovarian Mucinous Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000138	"A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type." []	5409056	\N	\N	EFO	7	EFO	experimental factor	Borderline Ovarian Mucinous Tumor
EFO:1000139	\N	\N	"A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." []	EFO:1000139	"A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." []	69743	\N	\N	EFO	0	EFO	Borderline Ovarian Serous Tumor	Borderline Ovarian Serous Tumor
EFO:0003893	EFO:1000139	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000139	"A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." []	211919	\N	\N	EFO	1	EFO	ovarian neoplasm	Borderline Ovarian Serous Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000139	"A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." []	565261	\N	\N	EFO	2	EFO	urogenital neoplasm	Borderline Ovarian Serous Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000139	"A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." []	565262	\N	\N	EFO	2	EFO	ovarian disease	Borderline Ovarian Serous Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000139	"A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." []	1146473	\N	\N	EFO	3	EFO	neoplasm	Borderline Ovarian Serous Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000139	"A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." []	1146474	\N	\N	EFO	3	EFO	reproductive system disease	Borderline Ovarian Serous Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000139	"A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." []	2028871	\N	\N	EFO	4	EFO	disease	Borderline Ovarian Serous Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000139	"A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." []	2028872	\N	\N	EFO	4	EFO	disease	Borderline Ovarian Serous Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000139	"A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." []	3179959	\N	\N	EFO	5	EFO	disposition	Borderline Ovarian Serous Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000139	"A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." []	4388915	\N	\N	EFO	6	EFO	material property	Borderline Ovarian Serous Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000139	"A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." []	5409057	\N	\N	EFO	7	EFO	experimental factor	Borderline Ovarian Serous Tumor
EFO:1000140	\N	\N	"An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." []	EFO:1000140	"An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." []	69744	\N	\N	EFO	0	EFO	Borderline Ovarian Surface Epithelial-Stromal Tumor	Borderline Ovarian Surface Epithelial-Stromal Tumor
EFO:0003893	EFO:1000140	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000140	"An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." []	211920	\N	\N	EFO	1	EFO	ovarian neoplasm	Borderline Ovarian Surface Epithelial-Stromal Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000140	"An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." []	565263	\N	\N	EFO	2	EFO	urogenital neoplasm	Borderline Ovarian Surface Epithelial-Stromal Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000140	"An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." []	565264	\N	\N	EFO	2	EFO	ovarian disease	Borderline Ovarian Surface Epithelial-Stromal Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000140	"An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." []	1146475	\N	\N	EFO	3	EFO	neoplasm	Borderline Ovarian Surface Epithelial-Stromal Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000140	"An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." []	1146476	\N	\N	EFO	3	EFO	reproductive system disease	Borderline Ovarian Surface Epithelial-Stromal Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000140	"An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." []	2028873	\N	\N	EFO	4	EFO	disease	Borderline Ovarian Surface Epithelial-Stromal Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000140	"An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." []	2028874	\N	\N	EFO	4	EFO	disease	Borderline Ovarian Surface Epithelial-Stromal Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000140	"An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." []	3179960	\N	\N	EFO	5	EFO	disposition	Borderline Ovarian Surface Epithelial-Stromal Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000140	"An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." []	4388916	\N	\N	EFO	6	EFO	material property	Borderline Ovarian Surface Epithelial-Stromal Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000140	"An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy." []	5409058	\N	\N	EFO	7	EFO	experimental factor	Borderline Ovarian Surface Epithelial-Stromal Tumor
EFO:1000141	\N	\N	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	69745	\N	\N	EFO	0	EFO	Brain Stem Glioblastoma	Brain Stem Glioblastoma
EFO:0006545	EFO:1000141	\N	"A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	211921	\N	\N	EFO	1	EFO	brain glioblastoma	Brain Stem Glioblastoma
EFO:0000519	EFO:0006545	\N	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	565265	\N	\N	EFO	2	EFO	glioblastoma multiforme	Brain Stem Glioblastoma
EFO:0000272	EFO:0000519	\N	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	1146477	\N	\N	EFO	3	EFO	astrocytoma	Brain Stem Glioblastoma
EFO:0005543	EFO:0000272	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	2028875	\N	\N	EFO	4	EFO	glioma	Brain Stem Glioblastoma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	3179961	\N	\N	EFO	5	EFO	central nervous system cancer	Brain Stem Glioblastoma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	3179962	\N	\N	EFO	5	EFO	brain neoplasm	Brain Stem Glioblastoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	4388917	\N	\N	EFO	6	EFO	cancer	Brain Stem Glioblastoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	4388918	\N	\N	EFO	6	EFO	nervous system disease	Brain Stem Glioblastoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	4388919	\N	\N	EFO	6	EFO	neoplasm	Brain Stem Glioblastoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	4388920	\N	\N	EFO	6	EFO	brain disease	Brain Stem Glioblastoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	5409059	\N	\N	EFO	7	EFO	neoplasm	Brain Stem Glioblastoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	6147560	\N	\N	EFO	8	EFO	disease	Brain Stem Glioblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	6147558	\N	\N	EFO	8	EFO	disease	Brain Stem Glioblastoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	5409062	\N	\N	EFO	7	EFO	nervous system disease	Brain Stem Glioblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	6550390	\N	\N	EFO	9	EFO	disposition	Brain Stem Glioblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	6888976	\N	\N	EFO	10	EFO	material property	Brain Stem Glioblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000141	"A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" []	7085894	\N	\N	EFO	11	EFO	experimental factor	Brain Stem Glioblastoma
EFO:1000142	\N	\N	"A neuroglial tumor that arises from the brain stem." []	EFO:1000142	"A neuroglial tumor that arises from the brain stem." []	69746	\N	\N	EFO	0	EFO	Brain Stem Glioma	Brain Stem Glioma
EFO:0003833	EFO:1000142	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000142	"A neuroglial tumor that arises from the brain stem." []	211922	\N	\N	EFO	1	EFO	brain neoplasm	Brain Stem Glioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000142	"A neuroglial tumor that arises from the brain stem." []	565266	\N	\N	EFO	2	EFO	neoplasm	Brain Stem Glioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000142	"A neuroglial tumor that arises from the brain stem." []	565267	\N	\N	EFO	2	EFO	brain disease	Brain Stem Glioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000142	"A neuroglial tumor that arises from the brain stem." []	1146478	\N	\N	EFO	3	EFO	disease	Brain Stem Glioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000142	"A neuroglial tumor that arises from the brain stem." []	1146479	\N	\N	EFO	3	EFO	nervous system disease	Brain Stem Glioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000142	"A neuroglial tumor that arises from the brain stem." []	3179964	\N	\N	EFO	5	EFO	disposition	Brain Stem Glioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000142	"A neuroglial tumor that arises from the brain stem." []	2028877	\N	\N	EFO	4	EFO	disease	Brain Stem Glioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000142	"A neuroglial tumor that arises from the brain stem." []	4132834	\N	\N	EFO	6	EFO	material property	Brain Stem Glioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000142	"A neuroglial tumor that arises from the brain stem." []	5181112	\N	\N	EFO	7	EFO	experimental factor	Brain Stem Glioma
EFO:1000143	\N	\N	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus" []	EFO:1000143	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus" []	69747	\N	\N	EFO	0	EFO	Breast Carcinoma by Gene Expression Profile	Breast Carcinoma by Gene Expression Profile
EFO:0000305	EFO:1000143	\N	"Tumors or cancer of the human BREAST." []	EFO:1000143	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus" []	211923	\N	\N	EFO	1	EFO	breast carcinoma	Breast Carcinoma by Gene Expression Profile
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000143	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus" []	565268	\N	\N	EFO	2	EFO	carcinoma	Breast Carcinoma by Gene Expression Profile
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000143	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus" []	1146480	\N	\N	EFO	3	EFO	cancer	Breast Carcinoma by Gene Expression Profile
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000143	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus" []	1146481	\N	\N	EFO	3	EFO	epithelial neoplasm	Breast Carcinoma by Gene Expression Profile
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000143	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus" []	2028878	\N	\N	EFO	4	EFO	neoplasm	Breast Carcinoma by Gene Expression Profile
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000143	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus" []	2028879	\N	\N	EFO	4	EFO	neoplasm	Breast Carcinoma by Gene Expression Profile
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000143	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus" []	3179965	\N	\N	EFO	5	EFO	disease	Breast Carcinoma by Gene Expression Profile
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000143	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus" []	4388922	\N	\N	EFO	6	EFO	disposition	Breast Carcinoma by Gene Expression Profile
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000143	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus" []	5409063	\N	\N	EFO	7	EFO	material property	Breast Carcinoma by Gene Expression Profile
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000143	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus" []	6147561	\N	\N	EFO	8	EFO	experimental factor	Breast Carcinoma by Gene Expression Profile
EFO:1000144	\N	\N	"A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." []	EFO:1000144	"A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." []	69748	\N	\N	EFO	0	EFO	Breast Diffuse Large B-Cell Lymphoma	Breast Diffuse Large B-Cell Lymphoma
EFO:0000574	EFO:1000144	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000144	"A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." []	211924	\N	\N	EFO	1	EFO	lymphoma	Breast Diffuse Large B-Cell Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000144	"A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." []	565269	\N	\N	EFO	2	EFO	lymphoid neoplasm	Breast Diffuse Large B-Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000144	"A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." []	1146482	\N	\N	EFO	3	EFO	cancer	Breast Diffuse Large B-Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000144	"A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." []	1146483	\N	\N	EFO	3	EFO	hematological system disease	Breast Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000144	"A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." []	2028880	\N	\N	EFO	4	EFO	neoplasm	Breast Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000144	"A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." []	2028881	\N	\N	EFO	4	EFO	disease	Breast Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000144	"A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." []	3179966	\N	\N	EFO	5	EFO	disease	Breast Diffuse Large B-Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000144	"A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." []	4388923	\N	\N	EFO	6	EFO	disposition	Breast Diffuse Large B-Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000144	"A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." []	5181113	\N	\N	EFO	7	EFO	material property	Breast Diffuse Large B-Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000144	"A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." []	5996651	\N	\N	EFO	8	EFO	experimental factor	Breast Diffuse Large B-Cell Lymphoma
EFO:1000145	\N	\N	"Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." []	EFO:1000145	"Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." []	69749	\N	\N	EFO	0	EFO	breast fibrosis	breast fibrosis
EFO:0006890	EFO:1000145	\N	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	EFO:1000145	"Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." []	211925	\N	\N	EFO	1	EFO	fibrosis	breast fibrosis
EFO:0000616	EFO:0006890	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000145	"Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." []	565270	\N	\N	EFO	2	EFO	neoplasm	breast fibrosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000145	"Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." []	1146484	\N	\N	EFO	3	EFO	disease	breast fibrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000145	"Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." []	2028882	\N	\N	EFO	4	EFO	disposition	breast fibrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000145	"Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." []	3179968	\N	\N	EFO	5	EFO	material property	breast fibrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000145	"Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." []	4388925	\N	\N	EFO	6	EFO	experimental factor	breast fibrosis
EFO:1000146	\N	\N	"An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." []	EFO:1000146	"An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." []	69750	\N	\N	EFO	0	EFO	Breast Mucosa-Associated Lymphoid Tissue Lymphoma	Breast Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000574	EFO:1000146	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000146	"An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." []	211926	\N	\N	EFO	1	EFO	lymphoma	Breast Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000146	"An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." []	565271	\N	\N	EFO	2	EFO	lymphoid neoplasm	Breast Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000146	"An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." []	1146485	\N	\N	EFO	3	EFO	cancer	Breast Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000146	"An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." []	1146486	\N	\N	EFO	3	EFO	hematological system disease	Breast Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000146	"An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." []	2028883	\N	\N	EFO	4	EFO	neoplasm	Breast Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000146	"An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." []	2028884	\N	\N	EFO	4	EFO	disease	Breast Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000146	"An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." []	3179969	\N	\N	EFO	5	EFO	disease	Breast Mucosa-Associated Lymphoid Tissue Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000146	"An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." []	4388926	\N	\N	EFO	6	EFO	disposition	Breast Mucosa-Associated Lymphoid Tissue Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000146	"An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." []	5181114	\N	\N	EFO	7	EFO	material property	Breast Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000146	"An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." []	5996652	\N	\N	EFO	8	EFO	experimental factor	Breast Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:1000147	\N	\N	"Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." []	EFO:1000147	"Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." []	69751	\N	\N	EFO	0	EFO	C-Cell Hyperplasia	C-Cell Hyperplasia
EFO:0000536	EFO:1000147	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1000147	"Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." []	211927	\N	\N	EFO	1	EFO	hyperplasia	C-Cell Hyperplasia
EFO:1000627	EFO:1000147	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000147	"Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." []	211928	\N	\N	EFO	1	EFO	thyroid disease	C-Cell Hyperplasia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000147	"Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." []	565272	\N	\N	EFO	2	EFO	disease	C-Cell Hyperplasia
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000147	"Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." []	565273	\N	\N	EFO	2	EFO	endocrine system disease	C-Cell Hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000147	"Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." []	2028886	\N	\N	EFO	4	EFO	disposition	C-Cell Hyperplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000147	"Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." []	1146488	\N	\N	EFO	3	EFO	disease	C-Cell Hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000147	"Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." []	2999938	\N	\N	EFO	5	EFO	material property	C-Cell Hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000147	"Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." []	4132835	\N	\N	EFO	6	EFO	experimental factor	C-Cell Hyperplasia
EFO:1000148	\N	\N	"A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." []	EFO:1000148	"A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." []	69752	\N	\N	EFO	0	EFO	Calcifying Fibrous Tumor	Calcifying Fibrous Tumor
EFO:0000616	EFO:1000148	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000148	"A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." []	211929	\N	\N	EFO	1	EFO	neoplasm	Calcifying Fibrous Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000148	"A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." []	565274	\N	\N	EFO	2	EFO	disease	Calcifying Fibrous Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000148	"A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." []	1146489	\N	\N	EFO	3	EFO	disposition	Calcifying Fibrous Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000148	"A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." []	2028887	\N	\N	EFO	4	EFO	material property	Calcifying Fibrous Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000148	"A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." []	3179972	\N	\N	EFO	5	EFO	experimental factor	Calcifying Fibrous Tumor
EFO:1000149	\N	\N	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	69753	\N	\N	EFO	0	EFO	Calcifying Nested Epithelial Stromal Tumor of the Liver	Calcifying Nested Epithelial Stromal Tumor of the Liver
EFO:1001513	EFO:1000149	\N	"Tumors or cancers of the LIVER." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	211930	\N	\N	EFO	1	EFO	liver neoplasm	Calcifying Nested Epithelial Stromal Tumor of the Liver
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	565275	\N	\N	EFO	2	EFO	liver disease	Calcifying Nested Epithelial Stromal Tumor of the Liver
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	565276	\N	\N	EFO	2	EFO	endocrine neoplasm	Calcifying Nested Epithelial Stromal Tumor of the Liver
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	1146490	\N	\N	EFO	3	EFO	digestive system disease	Calcifying Nested Epithelial Stromal Tumor of the Liver
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	1146491	\N	\N	EFO	3	EFO	endocrine system disease	Calcifying Nested Epithelial Stromal Tumor of the Liver
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	1146492	\N	\N	EFO	3	EFO	neoplasm	Calcifying Nested Epithelial Stromal Tumor of the Liver
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	1146493	\N	\N	EFO	3	EFO	endocrine system disease	Calcifying Nested Epithelial Stromal Tumor of the Liver
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	2028888	\N	\N	EFO	4	EFO	disease	Calcifying Nested Epithelial Stromal Tumor of the Liver
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	2028889	\N	\N	EFO	4	EFO	disease	Calcifying Nested Epithelial Stromal Tumor of the Liver
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	2028890	\N	\N	EFO	4	EFO	disease	Calcifying Nested Epithelial Stromal Tumor of the Liver
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	3179973	\N	\N	EFO	5	EFO	disposition	Calcifying Nested Epithelial Stromal Tumor of the Liver
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	4388928	\N	\N	EFO	6	EFO	material property	Calcifying Nested Epithelial Stromal Tumor of the Liver
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000149	"A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." []	5409066	\N	\N	EFO	7	EFO	experimental factor	Calcifying Nested Epithelial Stromal Tumor of the Liver
EFO:1000150	\N	\N	"A well circumscribed benign neoplasm arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on neoplasm location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." []	EFO:1000150	"A well circumscribed benign neoplasm arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on neoplasm location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." []	69754	\N	\N	EFO	0	EFO	Cardiac Rhabdomyoma	Cardiac Rhabdomyoma
EFO:0000616	EFO:1000150	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000150	"A well circumscribed benign neoplasm arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on neoplasm location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." []	211931	\N	\N	EFO	1	EFO	neoplasm	Cardiac Rhabdomyoma
EFO:0003777	EFO:1000150	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000150	"A well circumscribed benign neoplasm arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on neoplasm location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." []	211932	\N	\N	EFO	1	EFO	heart disease	Cardiac Rhabdomyoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000150	"A well circumscribed benign neoplasm arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on neoplasm location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." []	565277	\N	\N	EFO	2	EFO	disease	Cardiac Rhabdomyoma
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000150	"A well circumscribed benign neoplasm arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on neoplasm location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." []	565278	\N	\N	EFO	2	EFO	cardiovascular disease	Cardiac Rhabdomyoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000150	"A well circumscribed benign neoplasm arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on neoplasm location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." []	2028892	\N	\N	EFO	4	EFO	disposition	Cardiac Rhabdomyoma
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000150	"A well circumscribed benign neoplasm arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on neoplasm location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." []	1146495	\N	\N	EFO	3	EFO	disease	Cardiac Rhabdomyoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000150	"A well circumscribed benign neoplasm arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on neoplasm location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." []	2999939	\N	\N	EFO	5	EFO	material property	Cardiac Rhabdomyoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000150	"A well circumscribed benign neoplasm arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on neoplasm location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." []	4132836	\N	\N	EFO	6	EFO	experimental factor	Cardiac Rhabdomyoma
EFO:1000151	\N	\N	"A hemangioma characterized by the presence of cavernous vascular spaces." []	EFO:1000151	"A hemangioma characterized by the presence of cavernous vascular spaces." []	69755	\N	\N	EFO	0	EFO	Cavernous Hemangioma	Cavernous Hemangioma
EFO:1000635	EFO:1000151	\N	"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." []	EFO:1000151	"A hemangioma characterized by the presence of cavernous vascular spaces." []	211933	\N	\N	EFO	1	EFO	hemangioma	Cavernous Hemangioma
EFO:0000616	EFO:1000635	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000151	"A hemangioma characterized by the presence of cavernous vascular spaces." []	565279	\N	\N	EFO	2	EFO	neoplasm	Cavernous Hemangioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000151	"A hemangioma characterized by the presence of cavernous vascular spaces." []	1146496	\N	\N	EFO	3	EFO	disease	Cavernous Hemangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000151	"A hemangioma characterized by the presence of cavernous vascular spaces." []	2028893	\N	\N	EFO	4	EFO	disposition	Cavernous Hemangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000151	"A hemangioma characterized by the presence of cavernous vascular spaces." []	3179975	\N	\N	EFO	5	EFO	material property	Cavernous Hemangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000151	"A hemangioma characterized by the presence of cavernous vascular spaces." []	4388929	\N	\N	EFO	6	EFO	experimental factor	Cavernous Hemangioma
EFO:1000152	\N	\N	"A cavernous hemangioma arising from the face." []	EFO:1000152	"A cavernous hemangioma arising from the face." []	69756	\N	\N	EFO	0	EFO	Cavernous Hemangioma of the Face	Cavernous Hemangioma of the Face
EFO:0000616	EFO:1000152	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000152	"A cavernous hemangioma arising from the face." []	211934	\N	\N	EFO	1	EFO	neoplasm	Cavernous Hemangioma of the Face
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000152	"A cavernous hemangioma arising from the face." []	565280	\N	\N	EFO	2	EFO	disease	Cavernous Hemangioma of the Face
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000152	"A cavernous hemangioma arising from the face." []	1146497	\N	\N	EFO	3	EFO	disposition	Cavernous Hemangioma of the Face
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000152	"A cavernous hemangioma arising from the face." []	2028894	\N	\N	EFO	4	EFO	material property	Cavernous Hemangioma of the Face
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000152	"A cavernous hemangioma arising from the face." []	3179976	\N	\N	EFO	5	EFO	experimental factor	Cavernous Hemangioma of the Face
EFO:1000154	\N	\N	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	EFO:1000154	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	69757	\N	\N	EFO	0	EFO	Cecum Neuroendocrine Tumor G1	Cecum Neuroendocrine Tumor G1
EFO:0004243	EFO:1000154	\N	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	EFO:1000154	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	211935	\N	\N	EFO	1	EFO	carcinoid tumor	Cecum Neuroendocrine Tumor G1
EFO:0004288	EFO:1000154	\N	"Tumors or cancer of the COLON." []	EFO:1000154	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	211936	\N	\N	EFO	1	EFO	colonic neoplasm	Cecum Neuroendocrine Tumor G1
EFO:0000616	EFO:0004243	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000154	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565281	\N	\N	EFO	2	EFO	neoplasm	Cecum Neuroendocrine Tumor G1
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000154	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565282	\N	\N	EFO	2	EFO	digestive system disease	Cecum Neuroendocrine Tumor G1
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000154	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565283	\N	\N	EFO	2	EFO	neoplasm	Cecum Neuroendocrine Tumor G1
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000154	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146498	\N	\N	EFO	3	EFO	disease	Cecum Neuroendocrine Tumor G1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000154	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146499	\N	\N	EFO	3	EFO	disease	Cecum Neuroendocrine Tumor G1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000154	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	2028895	\N	\N	EFO	4	EFO	disposition	Cecum Neuroendocrine Tumor G1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000154	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	3179977	\N	\N	EFO	5	EFO	material property	Cecum Neuroendocrine Tumor G1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000154	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	4388930	\N	\N	EFO	6	EFO	experimental factor	Cecum Neuroendocrine Tumor G1
EFO:1000155	\N	\N	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	69758	\N	\N	EFO	0	EFO	Cecum Villous Adenoma	Cecum Villous Adenoma
EFO:0004288	EFO:1000155	\N	"Tumors or cancer of the COLON." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	211937	\N	\N	EFO	1	EFO	colonic neoplasm	Cecum Villous Adenoma
EFO:0005406	EFO:1000155	\N	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	211938	\N	\N	EFO	1	EFO	colorectal adenoma	Cecum Villous Adenoma
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	565284	\N	\N	EFO	2	EFO	digestive system disease	Cecum Villous Adenoma
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	565285	\N	\N	EFO	2	EFO	neoplasm	Cecum Villous Adenoma
EFO:0000405	EFO:0005406	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	565286	\N	\N	EFO	2	EFO	digestive system disease	Cecum Villous Adenoma
EFO:0004142	EFO:0005406	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	565287	\N	\N	EFO	2	EFO	colorectal neoplasm	Cecum Villous Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	1146500	\N	\N	EFO	3	EFO	disease	Cecum Villous Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	2028897	\N	\N	EFO	4	EFO	disease	Cecum Villous Adenoma
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	1146502	\N	\N	EFO	3	EFO	neoplasm	Cecum Villous Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	2999940	\N	\N	EFO	5	EFO	disposition	Cecum Villous Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	4132837	\N	\N	EFO	6	EFO	material property	Cecum Villous Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000155	"A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	5181115	\N	\N	EFO	7	EFO	experimental factor	Cecum Villous Adenoma
EFO:1000156	\N	\N	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	69759	\N	\N	EFO	0	EFO	Central Nervous System Anaplastic Large Cell Lymphoma	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0000326	EFO:1000156	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	211939	\N	\N	EFO	1	EFO	central nervous system cancer	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0003032	EFO:1000156	\N	"A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	211940	\N	\N	EFO	1	EFO	anaplastic large cell lymphoma	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	565288	\N	\N	EFO	2	EFO	cancer	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	565289	\N	\N	EFO	2	EFO	nervous system disease	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0002426	EFO:0003032	\N	"a neoplasm arising from mature T-cells or natural killer cells" []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	565290	\N	\N	EFO	2	EFO	neoplasm of mature T-cells or NK-cells	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	3179981	\N	\N	EFO	5	EFO	neoplasm	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	1146504	\N	\N	EFO	3	EFO	disease	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0001642	EFO:0002426	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	1146505	\N	\N	EFO	3	EFO	lymphoid neoplasm	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	4066742	\N	\N	EFO	6	EFO	disease	Central Nervous System Anaplastic Large Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	5059397	\N	\N	EFO	7	EFO	disposition	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	2028900	\N	\N	EFO	4	EFO	cancer	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	2028901	\N	\N	EFO	4	EFO	hematological system disease	Central Nervous System Anaplastic Large Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	5817378	\N	\N	EFO	8	EFO	material property	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	3179982	\N	\N	EFO	5	EFO	disease	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000156	"An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." []	6409755	\N	\N	EFO	9	EFO	experimental factor	Central Nervous System Anaplastic Large Cell Lymphoma
EFO:1000157	\N	\N	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	69760	\N	\N	EFO	0	EFO	Central Nervous System Lymphoma	Central Nervous System Lymphoma
EFO:0000326	EFO:1000157	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	211941	\N	\N	EFO	1	EFO	central nervous system cancer	Central Nervous System Lymphoma
EFO:0000574	EFO:1000157	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	211942	\N	\N	EFO	1	EFO	lymphoma	Central Nervous System Lymphoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	565291	\N	\N	EFO	2	EFO	cancer	Central Nervous System Lymphoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	565292	\N	\N	EFO	2	EFO	nervous system disease	Central Nervous System Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	565293	\N	\N	EFO	2	EFO	lymphoid neoplasm	Central Nervous System Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	2028904	\N	\N	EFO	4	EFO	neoplasm	Central Nervous System Lymphoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	1146507	\N	\N	EFO	3	EFO	disease	Central Nervous System Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	1146508	\N	\N	EFO	3	EFO	cancer	Central Nervous System Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	1146509	\N	\N	EFO	3	EFO	hematological system disease	Central Nervous System Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	2999941	\N	\N	EFO	5	EFO	disease	Central Nervous System Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	4132839	\N	\N	EFO	6	EFO	disposition	Central Nervous System Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	2028905	\N	\N	EFO	4	EFO	disease	Central Nervous System Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	5059399	\N	\N	EFO	7	EFO	material property	Central Nervous System Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000157	"A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." []	5876572	\N	\N	EFO	8	EFO	experimental factor	Central Nervous System Lymphoma
EFO:1000158	\N	\N	"A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." []	EFO:1000158	"A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." []	69761	\N	\N	EFO	0	EFO	Central Nervous System Neoplasm	Central Nervous System Neoplasm
EFO:0000616	EFO:1000158	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000158	"A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." []	211943	\N	\N	EFO	1	EFO	neoplasm	Central Nervous System Neoplasm
EFO:0000618	EFO:1000158	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000158	"A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." []	211944	\N	\N	EFO	1	EFO	nervous system disease	Central Nervous System Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000158	"A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." []	565294	\N	\N	EFO	2	EFO	disease	Central Nervous System Neoplasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000158	"A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." []	565295	\N	\N	EFO	2	EFO	disease	Central Nervous System Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000158	"A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." []	1146510	\N	\N	EFO	3	EFO	disposition	Central Nervous System Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000158	"A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." []	2028906	\N	\N	EFO	4	EFO	material property	Central Nervous System Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000158	"A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." []	3179985	\N	\N	EFO	5	EFO	experimental factor	Central Nervous System Neoplasm
EFO:1000159	\N	\N	"A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" []	EFO:1000159	"A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" []	69762	\N	\N	EFO	0	EFO	Cerebellar Liponeurocytoma	Cerebellar Liponeurocytoma
EFO:0003833	EFO:1000159	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000159	"A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" []	211945	\N	\N	EFO	1	EFO	brain neoplasm	Cerebellar Liponeurocytoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000159	"A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" []	565296	\N	\N	EFO	2	EFO	neoplasm	Cerebellar Liponeurocytoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000159	"A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" []	565297	\N	\N	EFO	2	EFO	brain disease	Cerebellar Liponeurocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000159	"A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" []	1146511	\N	\N	EFO	3	EFO	disease	Cerebellar Liponeurocytoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000159	"A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" []	1146512	\N	\N	EFO	3	EFO	nervous system disease	Cerebellar Liponeurocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000159	"A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" []	3179987	\N	\N	EFO	5	EFO	disposition	Cerebellar Liponeurocytoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000159	"A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" []	2028908	\N	\N	EFO	4	EFO	disease	Cerebellar Liponeurocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000159	"A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" []	4132841	\N	\N	EFO	6	EFO	material property	Cerebellar Liponeurocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000159	"A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" []	5181118	\N	\N	EFO	7	EFO	experimental factor	Cerebellar Liponeurocytoma
EFO:1000160	\N	\N	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	69763	\N	\N	EFO	0	EFO	Cervical Adenoid Basal Carcinoma	Cervical Adenoid Basal Carcinoma
EFO:0001061	EFO:1000160	\N	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	211946	\N	\N	EFO	1	EFO	cervical carcinoma	Cervical Adenoid Basal Carcinoma
EFO:0000313	EFO:0001061	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	565298	\N	\N	EFO	2	EFO	carcinoma	Cervical Adenoid Basal Carcinoma
EFO:0000512	EFO:0001061	\N	"any diease of the reproductive system" []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	565299	\N	\N	EFO	2	EFO	reproductive system disease	Cervical Adenoid Basal Carcinoma
EFO:0003863	EFO:0001061	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	565300	\N	\N	EFO	2	EFO	urogenital neoplasm	Cervical Adenoid Basal Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	1146513	\N	\N	EFO	3	EFO	cancer	Cervical Adenoid Basal Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	1146514	\N	\N	EFO	3	EFO	epithelial neoplasm	Cervical Adenoid Basal Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	1146515	\N	\N	EFO	3	EFO	disease	Cervical Adenoid Basal Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	1146516	\N	\N	EFO	3	EFO	neoplasm	Cervical Adenoid Basal Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	2028909	\N	\N	EFO	4	EFO	neoplasm	Cervical Adenoid Basal Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	2028910	\N	\N	EFO	4	EFO	neoplasm	Cervical Adenoid Basal Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	4132843	\N	\N	EFO	6	EFO	disposition	Cervical Adenoid Basal Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	3179988	\N	\N	EFO	5	EFO	disease	Cervical Adenoid Basal Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	5059400	\N	\N	EFO	7	EFO	material property	Cervical Adenoid Basal Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000160	"A rare, low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." []	5876573	\N	\N	EFO	8	EFO	experimental factor	Cervical Adenoid Basal Carcinoma
EFO:1000161	\N	\N	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	69764	\N	\N	EFO	0	EFO	Cervical Adenoid Cystic Carcinoma	Cervical Adenoid Cystic Carcinoma
EFO:0000231	EFO:1000161	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	211947	\N	\N	EFO	1	EFO	adenoid cystic carcinoma	Cervical Adenoid Cystic Carcinoma
EFO:0001061	EFO:1000161	\N	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	211948	\N	\N	EFO	1	EFO	cervical carcinoma	Cervical Adenoid Cystic Carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	565301	\N	\N	EFO	2	EFO	carcinoma	Cervical Adenoid Cystic Carcinoma
EFO:0000313	EFO:0001061	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	565302	\N	\N	EFO	2	EFO	carcinoma	Cervical Adenoid Cystic Carcinoma
EFO:0000512	EFO:0001061	\N	"any diease of the reproductive system" []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	565303	\N	\N	EFO	2	EFO	reproductive system disease	Cervical Adenoid Cystic Carcinoma
EFO:0003863	EFO:0001061	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	565304	\N	\N	EFO	2	EFO	urogenital neoplasm	Cervical Adenoid Cystic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	1146517	\N	\N	EFO	3	EFO	cancer	Cervical Adenoid Cystic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	1146518	\N	\N	EFO	3	EFO	epithelial neoplasm	Cervical Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	1146519	\N	\N	EFO	3	EFO	disease	Cervical Adenoid Cystic Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	1146520	\N	\N	EFO	3	EFO	neoplasm	Cervical Adenoid Cystic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	2028913	\N	\N	EFO	4	EFO	neoplasm	Cervical Adenoid Cystic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	2028914	\N	\N	EFO	4	EFO	neoplasm	Cervical Adenoid Cystic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	4132845	\N	\N	EFO	6	EFO	disposition	Cervical Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	3179991	\N	\N	EFO	5	EFO	disease	Cervical Adenoid Cystic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	5059401	\N	\N	EFO	7	EFO	material property	Cervical Adenoid Cystic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000161	"A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." []	5876574	\N	\N	EFO	8	EFO	experimental factor	Cervical Adenoid Cystic Carcinoma
EFO:1000162	\N	\N	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	69765	\N	\N	EFO	0	EFO	Cervical Adenosquamous Carcinoma	Cervical Adenosquamous Carcinoma
EFO:0001061	EFO:1000162	\N	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	211949	\N	\N	EFO	1	EFO	cervical carcinoma	Cervical Adenosquamous Carcinoma
EFO:0000313	EFO:0001061	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	565305	\N	\N	EFO	2	EFO	carcinoma	Cervical Adenosquamous Carcinoma
EFO:0000512	EFO:0001061	\N	"any diease of the reproductive system" []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	565306	\N	\N	EFO	2	EFO	reproductive system disease	Cervical Adenosquamous Carcinoma
EFO:0003863	EFO:0001061	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	565307	\N	\N	EFO	2	EFO	urogenital neoplasm	Cervical Adenosquamous Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	1146521	\N	\N	EFO	3	EFO	cancer	Cervical Adenosquamous Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	1146522	\N	\N	EFO	3	EFO	epithelial neoplasm	Cervical Adenosquamous Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	1146523	\N	\N	EFO	3	EFO	disease	Cervical Adenosquamous Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	1146524	\N	\N	EFO	3	EFO	neoplasm	Cervical Adenosquamous Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	2028917	\N	\N	EFO	4	EFO	neoplasm	Cervical Adenosquamous Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	2028918	\N	\N	EFO	4	EFO	neoplasm	Cervical Adenosquamous Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	4132847	\N	\N	EFO	6	EFO	disposition	Cervical Adenosquamous Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	3179994	\N	\N	EFO	5	EFO	disease	Cervical Adenosquamous Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	5059402	\N	\N	EFO	7	EFO	material property	Cervical Adenosquamous Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000162	"An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." []	5876575	\N	\N	EFO	8	EFO	experimental factor	Cervical Adenosquamous Carcinoma
EFO:1000163	\N	\N	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	69766	\N	\N	EFO	0	EFO	Cervical Clear Cell Adenocarcinoma	Cervical Clear Cell Adenocarcinoma
EFO:0000348	EFO:1000163	\N	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	211950	\N	\N	EFO	1	EFO	clear cell adenocarcinoma	Cervical Clear Cell Adenocarcinoma
EFO:0001416	EFO:1000163	\N	"Tumors or cancer of the UTERINE CERVIX." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	211951	\N	\N	EFO	1	EFO	cervical adenocarcinoma	Cervical Clear Cell Adenocarcinoma
EFO:0000228	EFO:0000348	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	565308	\N	\N	EFO	2	EFO	adenocarcinoma	Cervical Clear Cell Adenocarcinoma
EFO:0000228	EFO:0001416	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	565309	\N	\N	EFO	2	EFO	adenocarcinoma	Cervical Clear Cell Adenocarcinoma
EFO:0000512	EFO:0001416	\N	"any diease of the reproductive system" []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	565310	\N	\N	EFO	2	EFO	reproductive system disease	Cervical Clear Cell Adenocarcinoma
EFO:0003863	EFO:0001416	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	565311	\N	\N	EFO	2	EFO	urogenital neoplasm	Cervical Clear Cell Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	1146525	\N	\N	EFO	3	EFO	carcinoma	Cervical Clear Cell Adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	1146526	\N	\N	EFO	3	EFO	disease	Cervical Clear Cell Adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	1146527	\N	\N	EFO	3	EFO	neoplasm	Cervical Clear Cell Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	2028921	\N	\N	EFO	4	EFO	cancer	Cervical Clear Cell Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	2028922	\N	\N	EFO	4	EFO	epithelial neoplasm	Cervical Clear Cell Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	5059403	\N	\N	EFO	7	EFO	disposition	Cervical Clear Cell Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	4388939	\N	\N	EFO	6	EFO	disease	Cervical Clear Cell Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	3179997	\N	\N	EFO	5	EFO	neoplasm	Cervical Clear Cell Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	3179998	\N	\N	EFO	5	EFO	neoplasm	Cervical Clear Cell Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	5817379	\N	\N	EFO	8	EFO	material property	Cervical Clear Cell Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000163	"A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." []	6409756	\N	\N	EFO	9	EFO	experimental factor	Cervical Clear Cell Adenocarcinoma
EFO:1000164	\N	\N	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	69767	\N	\N	EFO	0	EFO	Cervical Endometrioid Adenocarcinoma	Cervical Endometrioid Adenocarcinoma
EFO:0005232	EFO:1000164	\N	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	211952	\N	\N	EFO	1	EFO	endometrium adenocarcinoma	Cervical Endometrioid Adenocarcinoma
EFO:0000228	EFO:0005232	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	565312	\N	\N	EFO	2	EFO	adenocarcinoma	Cervical Endometrioid Adenocarcinoma
EFO:1001512	EFO:0005232	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	565313	\N	\N	EFO	2	EFO	endometrial carcinoma	Cervical Endometrioid Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	1146528	\N	\N	EFO	3	EFO	carcinoma	Cervical Endometrioid Adenocarcinoma
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	1146529	\N	\N	EFO	3	EFO	carcinoma	Cervical Endometrioid Adenocarcinoma
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	1146530	\N	\N	EFO	3	EFO	endometrial neoplasm	Cervical Endometrioid Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	2028925	\N	\N	EFO	4	EFO	cancer	Cervical Endometrioid Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	2028926	\N	\N	EFO	4	EFO	epithelial neoplasm	Cervical Endometrioid Adenocarcinoma
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	2028927	\N	\N	EFO	4	EFO	uterine neoplasm	Cervical Endometrioid Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	3180001	\N	\N	EFO	5	EFO	neoplasm	Cervical Endometrioid Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	3180002	\N	\N	EFO	5	EFO	neoplasm	Cervical Endometrioid Adenocarcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	3180003	\N	\N	EFO	5	EFO	reproductive system disease	Cervical Endometrioid Adenocarcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	3180004	\N	\N	EFO	5	EFO	urogenital neoplasm	Cervical Endometrioid Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	5409068	\N	\N	EFO	7	EFO	disease	Cervical Endometrioid Adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	4388942	\N	\N	EFO	6	EFO	disease	Cervical Endometrioid Adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	4388943	\N	\N	EFO	6	EFO	neoplasm	Cervical Endometrioid Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	5996653	\N	\N	EFO	8	EFO	disposition	Cervical Endometrioid Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	6550391	\N	\N	EFO	9	EFO	material property	Cervical Endometrioid Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000164	"A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." []	6888977	\N	\N	EFO	10	EFO	experimental factor	Cervical Endometrioid Adenocarcinoma
EFO:1000165	\N	\N	"A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade." []	EFO:1000165	"A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade." []	69768	\N	\N	EFO	0	EFO	Cervical Glandular Intraepithelial Neoplasia	Cervical Glandular Intraepithelial Neoplasia
EFO:0003859	EFO:1000165	\N	"Tumors or cancer of the UTERUS." []	EFO:1000165	"A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade." []	211953	\N	\N	EFO	1	EFO	uterine neoplasm	Cervical Glandular Intraepithelial Neoplasia
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000165	"A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade." []	565314	\N	\N	EFO	2	EFO	reproductive system disease	Cervical Glandular Intraepithelial Neoplasia
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000165	"A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade." []	565315	\N	\N	EFO	2	EFO	urogenital neoplasm	Cervical Glandular Intraepithelial Neoplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000165	"A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade." []	1146531	\N	\N	EFO	3	EFO	disease	Cervical Glandular Intraepithelial Neoplasia
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000165	"A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade." []	1146532	\N	\N	EFO	3	EFO	neoplasm	Cervical Glandular Intraepithelial Neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000165	"A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade." []	3180006	\N	\N	EFO	5	EFO	disposition	Cervical Glandular Intraepithelial Neoplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000165	"A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade." []	2028929	\N	\N	EFO	4	EFO	disease	Cervical Glandular Intraepithelial Neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000165	"A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade." []	4132849	\N	\N	EFO	6	EFO	material property	Cervical Glandular Intraepithelial Neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000165	"A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade." []	5181123	\N	\N	EFO	7	EFO	experimental factor	Cervical Glandular Intraepithelial Neoplasia
EFO:1000166	\N	\N	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	69769	\N	\N	EFO	0	EFO	Cervical Intraepithelial Neoplasia Grade 2/3	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0001416	EFO:1000166	\N	"Tumors or cancer of the UTERINE CERVIX." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	211954	\N	\N	EFO	1	EFO	cervical adenocarcinoma	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0000228	EFO:0001416	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	565316	\N	\N	EFO	2	EFO	adenocarcinoma	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0000512	EFO:0001416	\N	"any diease of the reproductive system" []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	565317	\N	\N	EFO	2	EFO	reproductive system disease	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0003863	EFO:0001416	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	565318	\N	\N	EFO	2	EFO	urogenital neoplasm	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	1146533	\N	\N	EFO	3	EFO	carcinoma	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	1146534	\N	\N	EFO	3	EFO	disease	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	1146535	\N	\N	EFO	3	EFO	neoplasm	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	2028930	\N	\N	EFO	4	EFO	cancer	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	2028931	\N	\N	EFO	4	EFO	epithelial neoplasm	Cervical Intraepithelial Neoplasia Grade 2/3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	5059404	\N	\N	EFO	7	EFO	disposition	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	4388945	\N	\N	EFO	6	EFO	disease	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	3180007	\N	\N	EFO	5	EFO	neoplasm	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	3180008	\N	\N	EFO	5	EFO	neoplasm	Cervical Intraepithelial Neoplasia Grade 2/3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	5817380	\N	\N	EFO	8	EFO	material property	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000166	"A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." []	6409757	\N	\N	EFO	9	EFO	experimental factor	Cervical Intraepithelial Neoplasia Grade 2/3
EFO:1000167	\N	\N	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	69770	\N	\N	EFO	0	EFO	Cervical Large Cell Neuroendocrine Carcinoma	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000563	EFO:1000167	\N	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	211955	\N	\N	EFO	1	EFO	large cell neuroendocrine carcinoma	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0001061	EFO:1000167	\N	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	211956	\N	\N	EFO	1	EFO	cervical carcinoma	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000313	EFO:0000563	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	565319	\N	\N	EFO	2	EFO	carcinoma	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0003769	EFO:0000563	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	565320	\N	\N	EFO	2	EFO	endocrine neoplasm	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000313	EFO:0001061	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	565321	\N	\N	EFO	2	EFO	carcinoma	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000512	EFO:0001061	\N	"any diease of the reproductive system" []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	565322	\N	\N	EFO	2	EFO	reproductive system disease	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0003863	EFO:0001061	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	565323	\N	\N	EFO	2	EFO	urogenital neoplasm	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	1146536	\N	\N	EFO	3	EFO	cancer	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	1146537	\N	\N	EFO	3	EFO	epithelial neoplasm	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	1146538	\N	\N	EFO	3	EFO	neoplasm	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	1146539	\N	\N	EFO	3	EFO	endocrine system disease	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	1146540	\N	\N	EFO	3	EFO	disease	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	1146541	\N	\N	EFO	3	EFO	neoplasm	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	2028934	\N	\N	EFO	4	EFO	neoplasm	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	2028935	\N	\N	EFO	4	EFO	neoplasm	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	3180011	\N	\N	EFO	5	EFO	disease	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	2028937	\N	\N	EFO	4	EFO	disease	Cervical Large Cell Neuroendocrine Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	4132851	\N	\N	EFO	6	EFO	disposition	Cervical Large Cell Neuroendocrine Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	5059405	\N	\N	EFO	7	EFO	material property	Cervical Large Cell Neuroendocrine Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000167	"A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." []	5876576	\N	\N	EFO	8	EFO	experimental factor	Cervical Large Cell Neuroendocrine Carcinoma
EFO:1000168	\N	\N	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	69771	\N	\N	EFO	0	EFO	Cervical Metaplasia	Cervical Metaplasia
EFO:0001416	EFO:1000168	\N	"Tumors or cancer of the UTERINE CERVIX." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	211957	\N	\N	EFO	1	EFO	cervical adenocarcinoma	Cervical Metaplasia
EFO:0000228	EFO:0001416	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	565324	\N	\N	EFO	2	EFO	adenocarcinoma	Cervical Metaplasia
EFO:0000512	EFO:0001416	\N	"any diease of the reproductive system" []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	565325	\N	\N	EFO	2	EFO	reproductive system disease	Cervical Metaplasia
EFO:0003863	EFO:0001416	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	565326	\N	\N	EFO	2	EFO	urogenital neoplasm	Cervical Metaplasia
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	1146542	\N	\N	EFO	3	EFO	carcinoma	Cervical Metaplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	1146543	\N	\N	EFO	3	EFO	disease	Cervical Metaplasia
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	1146544	\N	\N	EFO	3	EFO	neoplasm	Cervical Metaplasia
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	2028939	\N	\N	EFO	4	EFO	cancer	Cervical Metaplasia
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	2028940	\N	\N	EFO	4	EFO	epithelial neoplasm	Cervical Metaplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	5059406	\N	\N	EFO	7	EFO	disposition	Cervical Metaplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	4388948	\N	\N	EFO	6	EFO	disease	Cervical Metaplasia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	3180014	\N	\N	EFO	5	EFO	neoplasm	Cervical Metaplasia
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	3180015	\N	\N	EFO	5	EFO	neoplasm	Cervical Metaplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	5817381	\N	\N	EFO	8	EFO	material property	Cervical Metaplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000168	"Metaplastic changes in the cervical glandular or squamous epithelium. " []	6409758	\N	\N	EFO	9	EFO	experimental factor	Cervical Metaplasia
EFO:1000169	\N	\N	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	69772	\N	\N	EFO	0	EFO	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0001416	EFO:1000169	\N	"Tumors or cancer of the UTERINE CERVIX." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	211958	\N	\N	EFO	1	EFO	cervical adenocarcinoma	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0000228	EFO:0001416	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	565327	\N	\N	EFO	2	EFO	adenocarcinoma	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0000512	EFO:0001416	\N	"any diease of the reproductive system" []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	565328	\N	\N	EFO	2	EFO	reproductive system disease	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0003863	EFO:0001416	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	565329	\N	\N	EFO	2	EFO	urogenital neoplasm	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	1146545	\N	\N	EFO	3	EFO	carcinoma	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	1146546	\N	\N	EFO	3	EFO	disease	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	1146547	\N	\N	EFO	3	EFO	neoplasm	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	2028943	\N	\N	EFO	4	EFO	cancer	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	2028944	\N	\N	EFO	4	EFO	epithelial neoplasm	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	5059407	\N	\N	EFO	7	EFO	disposition	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	4388950	\N	\N	EFO	6	EFO	disease	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	3180018	\N	\N	EFO	5	EFO	neoplasm	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	3180019	\N	\N	EFO	5	EFO	neoplasm	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	5817382	\N	\N	EFO	8	EFO	material property	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000169	"A rare, very well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." []	6409759	\N	\N	EFO	9	EFO	experimental factor	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
EFO:1000170	\N	\N	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	69773	\N	\N	EFO	0	EFO	Cervical Mucinous Adenocarcinoma, Villoglandular Variant	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0001416	EFO:1000170	\N	"Tumors or cancer of the UTERINE CERVIX." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	211959	\N	\N	EFO	1	EFO	cervical adenocarcinoma	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0000228	EFO:0001416	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	565330	\N	\N	EFO	2	EFO	adenocarcinoma	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0000512	EFO:0001416	\N	"any diease of the reproductive system" []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	565331	\N	\N	EFO	2	EFO	reproductive system disease	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0003863	EFO:0001416	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	565332	\N	\N	EFO	2	EFO	urogenital neoplasm	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	1146548	\N	\N	EFO	3	EFO	carcinoma	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	1146549	\N	\N	EFO	3	EFO	disease	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	1146550	\N	\N	EFO	3	EFO	neoplasm	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	2028947	\N	\N	EFO	4	EFO	cancer	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	2028948	\N	\N	EFO	4	EFO	epithelial neoplasm	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	5059408	\N	\N	EFO	7	EFO	disposition	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	4388952	\N	\N	EFO	6	EFO	disease	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	3180022	\N	\N	EFO	5	EFO	neoplasm	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	3180023	\N	\N	EFO	5	EFO	neoplasm	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	5817383	\N	\N	EFO	8	EFO	material property	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000170	"A cervical mucinous adenocarcinoma characterized by the presence of a prominent villoglandular pattern." []	6409760	\N	\N	EFO	9	EFO	experimental factor	Cervical Mucinous Adenocarcinoma, Villoglandular Variant
EFO:1000171	\N	\N	"A small cell carcinoma arising from the cervix." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	69774	\N	\N	EFO	0	EFO	Cervical Small Cell Carcinoma	Cervical Small Cell Carcinoma
EFO:0001061	EFO:1000171	\N	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	211960	\N	\N	EFO	1	EFO	cervical carcinoma	Cervical Small Cell Carcinoma
EFO:0000313	EFO:0001061	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	565333	\N	\N	EFO	2	EFO	carcinoma	Cervical Small Cell Carcinoma
EFO:0000512	EFO:0001061	\N	"any diease of the reproductive system" []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	565334	\N	\N	EFO	2	EFO	reproductive system disease	Cervical Small Cell Carcinoma
EFO:0003863	EFO:0001061	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	565335	\N	\N	EFO	2	EFO	urogenital neoplasm	Cervical Small Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	1146551	\N	\N	EFO	3	EFO	cancer	Cervical Small Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	1146552	\N	\N	EFO	3	EFO	epithelial neoplasm	Cervical Small Cell Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	1146553	\N	\N	EFO	3	EFO	disease	Cervical Small Cell Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	1146554	\N	\N	EFO	3	EFO	neoplasm	Cervical Small Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	2028951	\N	\N	EFO	4	EFO	neoplasm	Cervical Small Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	2028952	\N	\N	EFO	4	EFO	neoplasm	Cervical Small Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	4132857	\N	\N	EFO	6	EFO	disposition	Cervical Small Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	3180026	\N	\N	EFO	5	EFO	disease	Cervical Small Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	5059409	\N	\N	EFO	7	EFO	material property	Cervical Small Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000171	"A small cell carcinoma arising from the cervix." []	5876577	\N	\N	EFO	8	EFO	experimental factor	Cervical Small Cell Carcinoma
EFO:1000172	\N	\N	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	69775	\N	\N	EFO	0	EFO	cervical squamous cell carcinoma	cervical squamous cell carcinoma
EFO:0000707	EFO:1000172	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	211961	\N	\N	EFO	1	EFO	squamous cell carcinoma	cervical squamous cell carcinoma
EFO:0001061	EFO:1000172	\N	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	211962	\N	\N	EFO	1	EFO	cervical carcinoma	cervical squamous cell carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	565336	\N	\N	EFO	2	EFO	carcinoma	cervical squamous cell carcinoma
EFO:0000313	EFO:0001061	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	565337	\N	\N	EFO	2	EFO	carcinoma	cervical squamous cell carcinoma
EFO:0000512	EFO:0001061	\N	"any diease of the reproductive system" []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	565338	\N	\N	EFO	2	EFO	reproductive system disease	cervical squamous cell carcinoma
EFO:0003863	EFO:0001061	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	565339	\N	\N	EFO	2	EFO	urogenital neoplasm	cervical squamous cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	1146555	\N	\N	EFO	3	EFO	cancer	cervical squamous cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	1146556	\N	\N	EFO	3	EFO	epithelial neoplasm	cervical squamous cell carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	1146557	\N	\N	EFO	3	EFO	disease	cervical squamous cell carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	1146558	\N	\N	EFO	3	EFO	neoplasm	cervical squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	2028955	\N	\N	EFO	4	EFO	neoplasm	cervical squamous cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	2028956	\N	\N	EFO	4	EFO	neoplasm	cervical squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	4132859	\N	\N	EFO	6	EFO	disposition	cervical squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	3180029	\N	\N	EFO	5	EFO	disease	cervical squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	5059410	\N	\N	EFO	7	EFO	material property	cervical squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000172	"A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." []	5876578	\N	\N	EFO	8	EFO	experimental factor	cervical squamous cell carcinoma
EFO:1000173	\N	\N	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	69776	\N	\N	EFO	0	EFO	Cervical Wilms Tumor	Cervical Wilms Tumor
EFO:0003859	EFO:1000173	\N	"Tumors or cancer of the UTERUS." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	211963	\N	\N	EFO	1	EFO	uterine neoplasm	Cervical Wilms Tumor
Orphanet:654	EFO:1000173	\N	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	211964	\N	\N	EFO	1	EFO	Nephroblastoma	Cervical Wilms Tumor
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	565340	\N	\N	EFO	2	EFO	reproductive system disease	Cervical Wilms Tumor
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	565341	\N	\N	EFO	2	EFO	urogenital neoplasm	Cervical Wilms Tumor
EFO:0005784	Orphanet:654	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	565342	\N	\N	EFO	2	EFO	embryonal neoplasm	Cervical Wilms Tumor
Orphanet:183595	Orphanet:654	\N	"" []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	565343	\N	\N	EFO	2	EFO	Genetic renal tumor	Cervical Wilms Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	1146559	\N	\N	EFO	3	EFO	disease	Cervical Wilms Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	2028961	\N	\N	EFO	4	EFO	neoplasm	Cervical Wilms Tumor
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	1146561	\N	\N	EFO	3	EFO	neoplasm	Cervical Wilms Tumor
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	1146562	\N	\N	EFO	3	EFO	urogenital neoplasm	Cervical Wilms Tumor
Orphanet:68336	Orphanet:183595	\N	"" []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	1146563	\N	\N	EFO	3	EFO	Rare genetic tumor	Cervical Wilms Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	4132861	\N	\N	EFO	6	EFO	disposition	Cervical Wilms Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	2999942	\N	\N	EFO	5	EFO	disease	Cervical Wilms Tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	2028962	\N	\N	EFO	4	EFO	genetic disorder	Cervical Wilms Tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	2028963	\N	\N	EFO	4	EFO	neoplasm	Cervical Wilms Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	5059411	\N	\N	EFO	7	EFO	material property	Cervical Wilms Tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	3180034	\N	\N	EFO	5	EFO	disease	Cervical Wilms Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000173	"An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." []	5876579	\N	\N	EFO	8	EFO	experimental factor	Cervical Wilms Tumor
EFO:1000174	\N	\N	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	69777	\N	\N	EFO	0	EFO	Chondroid Chordoma	Chondroid Chordoma
EFO:0003820	EFO:1000174	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	211965	\N	\N	EFO	1	EFO	bone neoplasm	Chondroid Chordoma
EFO:0003828	EFO:1000174	\N	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	211966	\N	\N	EFO	1	EFO	spinal cord neoplasm	Chondroid Chordoma
EFO:0005784	EFO:1000174	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	211967	\N	\N	EFO	1	EFO	embryonal neoplasm	Chondroid Chordoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	565344	\N	\N	EFO	2	EFO	neoplasm	Chondroid Chordoma
EFO:0000616	EFO:0003828	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	565345	\N	\N	EFO	2	EFO	neoplasm	Chondroid Chordoma
EFO:0000618	EFO:0003828	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	565346	\N	\N	EFO	2	EFO	nervous system disease	Chondroid Chordoma
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	565347	\N	\N	EFO	2	EFO	neoplasm	Chondroid Chordoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	1146564	\N	\N	EFO	3	EFO	disease	Chondroid Chordoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	1146565	\N	\N	EFO	3	EFO	disease	Chondroid Chordoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	2028964	\N	\N	EFO	4	EFO	disposition	Chondroid Chordoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	3180035	\N	\N	EFO	5	EFO	material property	Chondroid Chordoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000174	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." []	4388957	\N	\N	EFO	6	EFO	experimental factor	Chondroid Chordoma
EFO:1000175	\N	\N	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C42589&ns=NCI_Thesaurus" []	EFO:1000175	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C42589&ns=NCI_Thesaurus" []	69778	\N	\N	EFO	0	EFO	Chondroid Hamartoma	Chondroid Hamartoma
EFO:0000616	EFO:1000175	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000175	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C42589&ns=NCI_Thesaurus" []	211968	\N	\N	EFO	1	EFO	neoplasm	Chondroid Hamartoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000175	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C42589&ns=NCI_Thesaurus" []	565348	\N	\N	EFO	2	EFO	disease	Chondroid Hamartoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000175	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C42589&ns=NCI_Thesaurus" []	1146566	\N	\N	EFO	3	EFO	disposition	Chondroid Hamartoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000175	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C42589&ns=NCI_Thesaurus" []	2028965	\N	\N	EFO	4	EFO	material property	Chondroid Hamartoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000175	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C42589&ns=NCI_Thesaurus" []	3180036	\N	\N	EFO	5	EFO	experimental factor	Chondroid Hamartoma
EFO:1000176	\N	\N	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	69779	\N	\N	EFO	0	EFO	Chordoid Meningioma	Chordoid Meningioma
Orphanet:2495	EFO:1000176	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	211969	\N	\N	EFO	1	EFO	Meningioma	Chordoid Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	565349	\N	\N	EFO	2	EFO	endocrine neoplasm	Chordoid Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	565350	\N	\N	EFO	2	EFO	meningeal neoplasm	Chordoid Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	1146567	\N	\N	EFO	3	EFO	neoplasm	Chordoid Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	1146568	\N	\N	EFO	3	EFO	endocrine system disease	Chordoid Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	1146569	\N	\N	EFO	3	EFO	brain neoplasm	Chordoid Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	3180038	\N	\N	EFO	5	EFO	disease	Chordoid Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	2028967	\N	\N	EFO	4	EFO	disease	Chordoid Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	2028968	\N	\N	EFO	4	EFO	neoplasm	Chordoid Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	2028969	\N	\N	EFO	4	EFO	brain disease	Chordoid Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	5409070	\N	\N	EFO	7	EFO	disposition	Chordoid Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	3180039	\N	\N	EFO	5	EFO	nervous system disease	Chordoid Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	5876580	\N	\N	EFO	8	EFO	material property	Chordoid Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	4388959	\N	\N	EFO	6	EFO	disease	Chordoid Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000176	"A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." []	6469841	\N	\N	EFO	9	EFO	experimental factor	Chordoid Meningioma
EFO:1000177	\N	\N	"A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" []	EFO:1000177	"A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" []	69780	\N	\N	EFO	0	EFO	Choroid Plexus Papilloma	Choroid Plexus Papilloma
EFO:0003833	EFO:1000177	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000177	"A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" []	211970	\N	\N	EFO	1	EFO	brain neoplasm	Choroid Plexus Papilloma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000177	"A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" []	565351	\N	\N	EFO	2	EFO	neoplasm	Choroid Plexus Papilloma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000177	"A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" []	565352	\N	\N	EFO	2	EFO	brain disease	Choroid Plexus Papilloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000177	"A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" []	1146570	\N	\N	EFO	3	EFO	disease	Choroid Plexus Papilloma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000177	"A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" []	1146571	\N	\N	EFO	3	EFO	nervous system disease	Choroid Plexus Papilloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000177	"A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" []	3180041	\N	\N	EFO	5	EFO	disposition	Choroid Plexus Papilloma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000177	"A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" []	2028971	\N	\N	EFO	4	EFO	disease	Choroid Plexus Papilloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000177	"A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" []	4132863	\N	\N	EFO	6	EFO	material property	Choroid Plexus Papilloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000177	"A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" []	5181133	\N	\N	EFO	7	EFO	experimental factor	Choroid Plexus Papilloma
EFO:1000178	\N	\N	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	69781	\N	\N	EFO	0	EFO	Chronic Eosinophilic Leukemia, Not Otherwise Specified	Chronic Eosinophilic Leukemia, Not Otherwise Specified
EFO:0000565	EFO:1000178	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	211971	\N	\N	EFO	1	EFO	leukemia	Chronic Eosinophilic Leukemia, Not Otherwise Specified
EFO:0002427	EFO:1000178	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	211972	\N	\N	EFO	1	EFO	myeloid neoplasm	Chronic Eosinophilic Leukemia, Not Otherwise Specified
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	565353	\N	\N	EFO	2	EFO	lymphoid neoplasm	Chronic Eosinophilic Leukemia, Not Otherwise Specified
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	565354	\N	\N	EFO	2	EFO	lymphoid neoplasm	Chronic Eosinophilic Leukemia, Not Otherwise Specified
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	1146572	\N	\N	EFO	3	EFO	cancer	Chronic Eosinophilic Leukemia, Not Otherwise Specified
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	1146573	\N	\N	EFO	3	EFO	hematological system disease	Chronic Eosinophilic Leukemia, Not Otherwise Specified
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	2028972	\N	\N	EFO	4	EFO	neoplasm	Chronic Eosinophilic Leukemia, Not Otherwise Specified
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	2028973	\N	\N	EFO	4	EFO	disease	Chronic Eosinophilic Leukemia, Not Otherwise Specified
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	3180042	\N	\N	EFO	5	EFO	disease	Chronic Eosinophilic Leukemia, Not Otherwise Specified
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	4388961	\N	\N	EFO	6	EFO	disposition	Chronic Eosinophilic Leukemia, Not Otherwise Specified
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	5181134	\N	\N	EFO	7	EFO	material property	Chronic Eosinophilic Leukemia, Not Otherwise Specified
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000178	"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \\\\idiopathic hypereosinophilic syndrome\\\\ is preferred. (WHO, 2001)" []	5996655	\N	\N	EFO	8	EFO	experimental factor	Chronic Eosinophilic Leukemia, Not Otherwise Specified
EFO:1000179	\N	\N	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	69782	\N	\N	EFO	0	EFO	Chronic Neutrophilic Leukemia	Chronic Neutrophilic Leukemia
EFO:0000565	EFO:1000179	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	211973	\N	\N	EFO	1	EFO	leukemia	Chronic Neutrophilic Leukemia
EFO:0002427	EFO:1000179	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	211974	\N	\N	EFO	1	EFO	myeloid neoplasm	Chronic Neutrophilic Leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	565355	\N	\N	EFO	2	EFO	lymphoid neoplasm	Chronic Neutrophilic Leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	565356	\N	\N	EFO	2	EFO	lymphoid neoplasm	Chronic Neutrophilic Leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	1146574	\N	\N	EFO	3	EFO	cancer	Chronic Neutrophilic Leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	1146575	\N	\N	EFO	3	EFO	hematological system disease	Chronic Neutrophilic Leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	2028974	\N	\N	EFO	4	EFO	neoplasm	Chronic Neutrophilic Leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	2028975	\N	\N	EFO	4	EFO	disease	Chronic Neutrophilic Leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	3180044	\N	\N	EFO	5	EFO	disease	Chronic Neutrophilic Leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	4388963	\N	\N	EFO	6	EFO	disposition	Chronic Neutrophilic Leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	5181135	\N	\N	EFO	7	EFO	material property	Chronic Neutrophilic Leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000179	"A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." []	5996656	\N	\N	EFO	8	EFO	experimental factor	Chronic Neutrophilic Leukemia
EFO:1000180	\N	\N	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	69783	\N	\N	EFO	0	EFO	Clear Cell Meningioma	Clear Cell Meningioma
Orphanet:2495	EFO:1000180	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	211975	\N	\N	EFO	1	EFO	Meningioma	Clear Cell Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	565357	\N	\N	EFO	2	EFO	endocrine neoplasm	Clear Cell Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	565358	\N	\N	EFO	2	EFO	meningeal neoplasm	Clear Cell Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	1146576	\N	\N	EFO	3	EFO	neoplasm	Clear Cell Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	1146577	\N	\N	EFO	3	EFO	endocrine system disease	Clear Cell Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	1146578	\N	\N	EFO	3	EFO	brain neoplasm	Clear Cell Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	3180047	\N	\N	EFO	5	EFO	disease	Clear Cell Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	2028977	\N	\N	EFO	4	EFO	disease	Clear Cell Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	2028978	\N	\N	EFO	4	EFO	neoplasm	Clear Cell Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	2028979	\N	\N	EFO	4	EFO	brain disease	Clear Cell Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	5409074	\N	\N	EFO	7	EFO	disposition	Clear Cell Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	3180048	\N	\N	EFO	5	EFO	nervous system disease	Clear Cell Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	5876581	\N	\N	EFO	8	EFO	material property	Clear Cell Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	4388966	\N	\N	EFO	6	EFO	disease	Clear Cell Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000180	"A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." []	6469842	\N	\N	EFO	9	EFO	experimental factor	Clear Cell Meningioma
EFO:1000181	\N	\N	"A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." []	EFO:1000181	"A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." []	69784	\N	\N	EFO	0	EFO	Clear Cell Papillary Cystadenoma	Clear Cell Papillary Cystadenoma
EFO:0000232	EFO:1000181	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000181	"A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." []	211976	\N	\N	EFO	1	EFO	adenoma	Clear Cell Papillary Cystadenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000181	"A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." []	565359	\N	\N	EFO	2	EFO	benign neoplasm	Clear Cell Papillary Cystadenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000181	"A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." []	1146579	\N	\N	EFO	3	EFO	neoplasm	Clear Cell Papillary Cystadenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000181	"A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." []	2028980	\N	\N	EFO	4	EFO	disease	Clear Cell Papillary Cystadenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000181	"A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." []	3180049	\N	\N	EFO	5	EFO	disposition	Clear Cell Papillary Cystadenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000181	"A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." []	4388967	\N	\N	EFO	6	EFO	material property	Clear Cell Papillary Cystadenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000181	"A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." []	5409075	\N	\N	EFO	7	EFO	experimental factor	Clear Cell Papillary Cystadenoma
EFO:1000182	\N	\N	"A rare Burkitt lymphoma that arises from the colon." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	69785	\N	\N	EFO	0	EFO	Colon Burkitt Lymphoma	Colon Burkitt Lymphoma
EFO:0000309	EFO:1000182	\N	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	211977	\N	\N	EFO	1	EFO	Burkitts lymphoma	Colon Burkitt Lymphoma
EFO:0004288	EFO:1000182	\N	"Tumors or cancer of the COLON." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	211978	\N	\N	EFO	1	EFO	colonic neoplasm	Colon Burkitt Lymphoma
EFO:0000096	EFO:0000309	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	565360	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	Colon Burkitt Lymphoma
EFO:0000574	EFO:0000309	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	565361	\N	\N	EFO	2	EFO	lymphoma	Colon Burkitt Lymphoma
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	565362	\N	\N	EFO	2	EFO	digestive system disease	Colon Burkitt Lymphoma
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	565363	\N	\N	EFO	2	EFO	neoplasm	Colon Burkitt Lymphoma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	1146580	\N	\N	EFO	3	EFO	lymphoid neoplasm	Colon Burkitt Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	1146581	\N	\N	EFO	3	EFO	lymphoid neoplasm	Colon Burkitt Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	1146582	\N	\N	EFO	3	EFO	disease	Colon Burkitt Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	4388968	\N	\N	EFO	6	EFO	disease	Colon Burkitt Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	2028981	\N	\N	EFO	4	EFO	cancer	Colon Burkitt Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	2028982	\N	\N	EFO	4	EFO	hematological system disease	Colon Burkitt Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	5028344	\N	\N	EFO	7	EFO	disposition	Colon Burkitt Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	3180050	\N	\N	EFO	5	EFO	neoplasm	Colon Burkitt Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	3180051	\N	\N	EFO	5	EFO	disease	Colon Burkitt Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	5817384	\N	\N	EFO	8	EFO	material property	Colon Burkitt Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000182	"A rare Burkitt lymphoma that arises from the colon." []	6409761	\N	\N	EFO	9	EFO	experimental factor	Colon Burkitt Lymphoma
EFO:1000183	\N	\N	"A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." []	EFO:1000183	"A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." []	69786	\N	\N	EFO	0	EFO	Colon Dysplasia	Colon Dysplasia
EFO:0000405	EFO:1000183	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000183	"A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." []	211979	\N	\N	EFO	1	EFO	digestive system disease	Colon Dysplasia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000183	"A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." []	565364	\N	\N	EFO	2	EFO	disease	Colon Dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000183	"A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." []	1146584	\N	\N	EFO	3	EFO	disposition	Colon Dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000183	"A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." []	2028984	\N	\N	EFO	4	EFO	material property	Colon Dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000183	"A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." []	3180053	\N	\N	EFO	5	EFO	experimental factor	Colon Dysplasia
EFO:1000184	\N	\N	"A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." []	EFO:1000184	"A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." []	69787	\N	\N	EFO	0	EFO	Colon Inflammatory Polyp	Colon Inflammatory Polyp
EFO:0000662	EFO:1000184	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000184	"A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." []	211980	\N	\N	EFO	1	EFO	polyp	Colon Inflammatory Polyp
EFO:0004288	EFO:1000184	\N	"Tumors or cancer of the COLON." []	EFO:1000184	"A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." []	211981	\N	\N	EFO	1	EFO	colonic neoplasm	Colon Inflammatory Polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000184	"A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." []	565365	\N	\N	EFO	2	EFO	neoplasm	Colon Inflammatory Polyp
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000184	"A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." []	565366	\N	\N	EFO	2	EFO	digestive system disease	Colon Inflammatory Polyp
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000184	"A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." []	565367	\N	\N	EFO	2	EFO	neoplasm	Colon Inflammatory Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000184	"A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." []	1146585	\N	\N	EFO	3	EFO	disease	Colon Inflammatory Polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000184	"A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." []	1146586	\N	\N	EFO	3	EFO	disease	Colon Inflammatory Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000184	"A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." []	2028985	\N	\N	EFO	4	EFO	disposition	Colon Inflammatory Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000184	"A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." []	3180054	\N	\N	EFO	5	EFO	material property	Colon Inflammatory Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000184	"A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." []	4388971	\N	\N	EFO	6	EFO	experimental factor	Colon Inflammatory Polyp
EFO:1000185	\N	\N	"A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	EFO:1000185	"A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	69788	\N	\N	EFO	0	EFO	Colon Juvenile Polyp	Colon Juvenile Polyp
EFO:0000662	EFO:1000185	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000185	"A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	211982	\N	\N	EFO	1	EFO	polyp	Colon Juvenile Polyp
EFO:0004288	EFO:1000185	\N	"Tumors or cancer of the COLON." []	EFO:1000185	"A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	211983	\N	\N	EFO	1	EFO	colonic neoplasm	Colon Juvenile Polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000185	"A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	565368	\N	\N	EFO	2	EFO	neoplasm	Colon Juvenile Polyp
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000185	"A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	565369	\N	\N	EFO	2	EFO	digestive system disease	Colon Juvenile Polyp
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000185	"A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	565370	\N	\N	EFO	2	EFO	neoplasm	Colon Juvenile Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000185	"A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	1146587	\N	\N	EFO	3	EFO	disease	Colon Juvenile Polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000185	"A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	1146588	\N	\N	EFO	3	EFO	disease	Colon Juvenile Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000185	"A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	2028986	\N	\N	EFO	4	EFO	disposition	Colon Juvenile Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000185	"A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	3180055	\N	\N	EFO	5	EFO	material property	Colon Juvenile Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000185	"A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	4388972	\N	\N	EFO	6	EFO	experimental factor	Colon Juvenile Polyp
EFO:1000186	\N	\N	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	69789	\N	\N	EFO	0	EFO	Colon Mucosa-Associated Lymphoid Tissue Lymphoma	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000574	EFO:1000186	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	211984	\N	\N	EFO	1	EFO	lymphoma	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0004288	EFO:1000186	\N	"Tumors or cancer of the COLON." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	211985	\N	\N	EFO	1	EFO	colonic neoplasm	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	565371	\N	\N	EFO	2	EFO	lymphoid neoplasm	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	565372	\N	\N	EFO	2	EFO	digestive system disease	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	565373	\N	\N	EFO	2	EFO	neoplasm	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	1146589	\N	\N	EFO	3	EFO	cancer	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	1146590	\N	\N	EFO	3	EFO	hematological system disease	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	1146591	\N	\N	EFO	3	EFO	disease	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	3180056	\N	\N	EFO	5	EFO	disease	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	2028987	\N	\N	EFO	4	EFO	neoplasm	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	2028988	\N	\N	EFO	4	EFO	disease	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	4066743	\N	\N	EFO	6	EFO	disposition	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	5059413	\N	\N	EFO	7	EFO	material property	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000186	"An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." []	5876583	\N	\N	EFO	8	EFO	experimental factor	Colon Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:1000188	\N	\N	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	69790	\N	\N	EFO	0	EFO	Colon Neuroendocrine Tumor G1	Colon Neuroendocrine Tumor G1
EFO:0003769	EFO:1000188	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	211986	\N	\N	EFO	1	EFO	endocrine neoplasm	Colon Neuroendocrine Tumor G1
EFO:0004142	EFO:1000188	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	211987	\N	\N	EFO	1	EFO	colorectal neoplasm	Colon Neuroendocrine Tumor G1
EFO:0004288	EFO:1000188	\N	"Tumors or cancer of the COLON." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	211988	\N	\N	EFO	1	EFO	colonic neoplasm	Colon Neuroendocrine Tumor G1
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565374	\N	\N	EFO	2	EFO	neoplasm	Colon Neuroendocrine Tumor G1
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565375	\N	\N	EFO	2	EFO	endocrine system disease	Colon Neuroendocrine Tumor G1
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565376	\N	\N	EFO	2	EFO	neoplasm	Colon Neuroendocrine Tumor G1
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565377	\N	\N	EFO	2	EFO	digestive system disease	Colon Neuroendocrine Tumor G1
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565378	\N	\N	EFO	2	EFO	neoplasm	Colon Neuroendocrine Tumor G1
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146593	\N	\N	EFO	3	EFO	disease	Colon Neuroendocrine Tumor G1
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146594	\N	\N	EFO	3	EFO	disease	Colon Neuroendocrine Tumor G1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146595	\N	\N	EFO	3	EFO	disease	Colon Neuroendocrine Tumor G1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	2028990	\N	\N	EFO	4	EFO	disposition	Colon Neuroendocrine Tumor G1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	3180059	\N	\N	EFO	5	EFO	material property	Colon Neuroendocrine Tumor G1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000188	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	4388974	\N	\N	EFO	6	EFO	experimental factor	Colon Neuroendocrine Tumor G1
EFO:1000189	\N	\N	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	69791	\N	\N	EFO	0	EFO	Colon Sessile Serrated Adenoma/Polyp	Colon Sessile Serrated Adenoma/Polyp
EFO:0000662	EFO:1000189	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	211989	\N	\N	EFO	1	EFO	polyp	Colon Sessile Serrated Adenoma/Polyp
EFO:0004142	EFO:1000189	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	211990	\N	\N	EFO	1	EFO	colorectal neoplasm	Colon Sessile Serrated Adenoma/Polyp
EFO:0004288	EFO:1000189	\N	"Tumors or cancer of the COLON." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	211991	\N	\N	EFO	1	EFO	colonic neoplasm	Colon Sessile Serrated Adenoma/Polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	565379	\N	\N	EFO	2	EFO	neoplasm	Colon Sessile Serrated Adenoma/Polyp
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	565380	\N	\N	EFO	2	EFO	neoplasm	Colon Sessile Serrated Adenoma/Polyp
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	565381	\N	\N	EFO	2	EFO	digestive system disease	Colon Sessile Serrated Adenoma/Polyp
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	565382	\N	\N	EFO	2	EFO	neoplasm	Colon Sessile Serrated Adenoma/Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	1146596	\N	\N	EFO	3	EFO	disease	Colon Sessile Serrated Adenoma/Polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	1146597	\N	\N	EFO	3	EFO	disease	Colon Sessile Serrated Adenoma/Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	2028991	\N	\N	EFO	4	EFO	disposition	Colon Sessile Serrated Adenoma/Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	3180060	\N	\N	EFO	5	EFO	material property	Colon Sessile Serrated Adenoma/Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000189	"A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." []	4388975	\N	\N	EFO	6	EFO	experimental factor	Colon Sessile Serrated Adenoma/Polyp
EFO:1000190	\N	\N	"An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." []	EFO:1000190	"An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." []	69792	\N	\N	EFO	0	EFO	Colorectal Adenosquamous Carcinoma	Colorectal Adenosquamous Carcinoma
EFO:0000405	EFO:1000190	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000190	"An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." []	211992	\N	\N	EFO	1	EFO	digestive system disease	Colorectal Adenosquamous Carcinoma
EFO:0004142	EFO:1000190	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000190	"An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." []	211993	\N	\N	EFO	1	EFO	colorectal neoplasm	Colorectal Adenosquamous Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000190	"An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." []	565383	\N	\N	EFO	2	EFO	disease	Colorectal Adenosquamous Carcinoma
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000190	"An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." []	565384	\N	\N	EFO	2	EFO	neoplasm	Colorectal Adenosquamous Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000190	"An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." []	2028993	\N	\N	EFO	4	EFO	disposition	Colorectal Adenosquamous Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000190	"An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." []	1146599	\N	\N	EFO	3	EFO	disease	Colorectal Adenosquamous Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000190	"An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." []	2999943	\N	\N	EFO	5	EFO	material property	Colorectal Adenosquamous Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000190	"An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." []	4132866	\N	\N	EFO	6	EFO	experimental factor	Colorectal Adenosquamous Carcinoma
EFO:1000191	\N	\N	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	69793	\N	\N	EFO	0	EFO	Colorectal Diffuse Large B-Cell Lymphoma	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0000403	EFO:1000191	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	211994	\N	\N	EFO	1	EFO	diffuse large B-cell lymphoma	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0000405	EFO:1000191	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	211995	\N	\N	EFO	1	EFO	digestive system disease	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0004142	EFO:1000191	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	211996	\N	\N	EFO	1	EFO	colorectal neoplasm	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0000096	EFO:0000403	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	565385	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0000574	EFO:0000403	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	565386	\N	\N	EFO	2	EFO	lymphoma	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	565387	\N	\N	EFO	2	EFO	disease	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	565388	\N	\N	EFO	2	EFO	neoplasm	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	1146600	\N	\N	EFO	3	EFO	lymphoid neoplasm	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	1146601	\N	\N	EFO	3	EFO	lymphoid neoplasm	Colorectal Diffuse Large B-Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	5028346	\N	\N	EFO	7	EFO	disposition	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	4388976	\N	\N	EFO	6	EFO	disease	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	2028994	\N	\N	EFO	4	EFO	cancer	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	2028995	\N	\N	EFO	4	EFO	hematological system disease	Colorectal Diffuse Large B-Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	5801811	\N	\N	EFO	8	EFO	material property	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	3180062	\N	\N	EFO	5	EFO	neoplasm	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	3180063	\N	\N	EFO	5	EFO	disease	Colorectal Diffuse Large B-Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000191	"A diffuse large B-cell lymphoma that arises from the colon or rectum." []	6378773	\N	\N	EFO	9	EFO	experimental factor	Colorectal Diffuse Large B-Cell Lymphoma
EFO:1000192	\N	\N	"A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." []	EFO:1000192	"A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." []	69794	\N	\N	EFO	0	EFO	Colorectal Gastrointestinal Stromal Tumor	Colorectal Gastrointestinal Stromal Tumor
EFO:0000405	EFO:1000192	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000192	"A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." []	211997	\N	\N	EFO	1	EFO	digestive system disease	Colorectal Gastrointestinal Stromal Tumor
EFO:0004142	EFO:1000192	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000192	"A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." []	211998	\N	\N	EFO	1	EFO	colorectal neoplasm	Colorectal Gastrointestinal Stromal Tumor
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000192	"A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." []	565389	\N	\N	EFO	2	EFO	disease	Colorectal Gastrointestinal Stromal Tumor
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000192	"A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." []	565390	\N	\N	EFO	2	EFO	neoplasm	Colorectal Gastrointestinal Stromal Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000192	"A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." []	2028999	\N	\N	EFO	4	EFO	disposition	Colorectal Gastrointestinal Stromal Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000192	"A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." []	1146605	\N	\N	EFO	3	EFO	disease	Colorectal Gastrointestinal Stromal Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000192	"A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." []	2999945	\N	\N	EFO	5	EFO	material property	Colorectal Gastrointestinal Stromal Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000192	"A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." []	4132868	\N	\N	EFO	6	EFO	experimental factor	Colorectal Gastrointestinal Stromal Tumor
EFO:1000193	\N	\N	"A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." []	EFO:1000193	"A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." []	69795	\N	\N	EFO	0	EFO	Colorectal Hamartoma	Colorectal Hamartoma
EFO:0000662	EFO:1000193	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000193	"A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." []	211999	\N	\N	EFO	1	EFO	polyp	Colorectal Hamartoma
EFO:0004288	EFO:1000193	\N	"Tumors or cancer of the COLON." []	EFO:1000193	"A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." []	212000	\N	\N	EFO	1	EFO	colonic neoplasm	Colorectal Hamartoma
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000193	"A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." []	565391	\N	\N	EFO	2	EFO	neoplasm	Colorectal Hamartoma
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000193	"A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." []	565392	\N	\N	EFO	2	EFO	digestive system disease	Colorectal Hamartoma
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000193	"A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." []	565393	\N	\N	EFO	2	EFO	neoplasm	Colorectal Hamartoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000193	"A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." []	1146606	\N	\N	EFO	3	EFO	disease	Colorectal Hamartoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000193	"A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." []	1146607	\N	\N	EFO	3	EFO	disease	Colorectal Hamartoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000193	"A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." []	2029000	\N	\N	EFO	4	EFO	disposition	Colorectal Hamartoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000193	"A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." []	3180066	\N	\N	EFO	5	EFO	material property	Colorectal Hamartoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000193	"A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." []	4388978	\N	\N	EFO	6	EFO	experimental factor	Colorectal Hamartoma
EFO:1000194	\N	\N	"A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	EFO:1000194	"A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	69796	\N	\N	EFO	0	EFO	Colorectal Juvenile Polyp	Colorectal Juvenile Polyp
EFO:0000405	EFO:1000194	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000194	"A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	212001	\N	\N	EFO	1	EFO	digestive system disease	Colorectal Juvenile Polyp
EFO:0000662	EFO:1000194	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000194	"A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	212002	\N	\N	EFO	1	EFO	polyp	Colorectal Juvenile Polyp
EFO:0004142	EFO:1000194	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000194	"A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	212003	\N	\N	EFO	1	EFO	colorectal neoplasm	Colorectal Juvenile Polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000194	"A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	565394	\N	\N	EFO	2	EFO	disease	Colorectal Juvenile Polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000194	"A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	565395	\N	\N	EFO	2	EFO	neoplasm	Colorectal Juvenile Polyp
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000194	"A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	565396	\N	\N	EFO	2	EFO	neoplasm	Colorectal Juvenile Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000194	"A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	2029002	\N	\N	EFO	4	EFO	disposition	Colorectal Juvenile Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000194	"A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	1146609	\N	\N	EFO	3	EFO	disease	Colorectal Juvenile Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000194	"A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	2999946	\N	\N	EFO	5	EFO	material property	Colorectal Juvenile Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000194	"A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	4132869	\N	\N	EFO	6	EFO	experimental factor	Colorectal Juvenile Polyp
EFO:1000195	\N	\N	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	69797	\N	\N	EFO	0	EFO	Colorectal Neuroendocrine Tumor G1	Colorectal Neuroendocrine Tumor G1
EFO:0003769	EFO:1000195	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	212004	\N	\N	EFO	1	EFO	endocrine neoplasm	Colorectal Neuroendocrine Tumor G1
EFO:0004142	EFO:1000195	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	212005	\N	\N	EFO	1	EFO	colorectal neoplasm	Colorectal Neuroendocrine Tumor G1
EFO:0004288	EFO:1000195	\N	"Tumors or cancer of the COLON." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	212006	\N	\N	EFO	1	EFO	colonic neoplasm	Colorectal Neuroendocrine Tumor G1
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565397	\N	\N	EFO	2	EFO	neoplasm	Colorectal Neuroendocrine Tumor G1
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565398	\N	\N	EFO	2	EFO	endocrine system disease	Colorectal Neuroendocrine Tumor G1
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565399	\N	\N	EFO	2	EFO	neoplasm	Colorectal Neuroendocrine Tumor G1
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565400	\N	\N	EFO	2	EFO	digestive system disease	Colorectal Neuroendocrine Tumor G1
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565401	\N	\N	EFO	2	EFO	neoplasm	Colorectal Neuroendocrine Tumor G1
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146610	\N	\N	EFO	3	EFO	disease	Colorectal Neuroendocrine Tumor G1
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146611	\N	\N	EFO	3	EFO	disease	Colorectal Neuroendocrine Tumor G1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146612	\N	\N	EFO	3	EFO	disease	Colorectal Neuroendocrine Tumor G1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	2029003	\N	\N	EFO	4	EFO	disposition	Colorectal Neuroendocrine Tumor G1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	3180068	\N	\N	EFO	5	EFO	material property	Colorectal Neuroendocrine Tumor G1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000195	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	4388979	\N	\N	EFO	6	EFO	experimental factor	Colorectal Neuroendocrine Tumor G1
EFO:1000196	\N	\N	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	69798	\N	\N	EFO	0	EFO	Colorectal Serrated Adenocarcinoma	Colorectal Serrated Adenocarcinoma
EFO:0000365	EFO:1000196	\N	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	212007	\N	\N	EFO	1	EFO	colorectal adenocarcinoma	Colorectal Serrated Adenocarcinoma
EFO:0000228	EFO:0000365	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	565402	\N	\N	EFO	2	EFO	adenocarcinoma	Colorectal Serrated Adenocarcinoma
EFO:0004288	EFO:0000365	\N	"Tumors or cancer of the COLON." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	565403	\N	\N	EFO	2	EFO	colonic neoplasm	Colorectal Serrated Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	1146613	\N	\N	EFO	3	EFO	carcinoma	Colorectal Serrated Adenocarcinoma
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	1146614	\N	\N	EFO	3	EFO	digestive system disease	Colorectal Serrated Adenocarcinoma
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	1146615	\N	\N	EFO	3	EFO	neoplasm	Colorectal Serrated Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	2029004	\N	\N	EFO	4	EFO	cancer	Colorectal Serrated Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	2029005	\N	\N	EFO	4	EFO	epithelial neoplasm	Colorectal Serrated Adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	2029006	\N	\N	EFO	4	EFO	disease	Colorectal Serrated Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	4388980	\N	\N	EFO	6	EFO	disease	Colorectal Serrated Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	3180069	\N	\N	EFO	5	EFO	neoplasm	Colorectal Serrated Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	3180070	\N	\N	EFO	5	EFO	neoplasm	Colorectal Serrated Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	5059414	\N	\N	EFO	7	EFO	disposition	Colorectal Serrated Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	5876584	\N	\N	EFO	8	EFO	material property	Colorectal Serrated Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000196	"A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." []	6469843	\N	\N	EFO	9	EFO	experimental factor	Colorectal Serrated Adenocarcinoma
EFO:1000197	\N	\N	"A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." []	EFO:1000197	"A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." []	69799	\N	\N	EFO	0	EFO	Colorectal Sessile Serrated Adenoma/Polyp	Colorectal Sessile Serrated Adenoma/Polyp
EFO:0005406	EFO:1000197	\N	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	EFO:1000197	"A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." []	212008	\N	\N	EFO	1	EFO	colorectal adenoma	Colorectal Sessile Serrated Adenoma/Polyp
EFO:0000405	EFO:0005406	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000197	"A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." []	565404	\N	\N	EFO	2	EFO	digestive system disease	Colorectal Sessile Serrated Adenoma/Polyp
EFO:0004142	EFO:0005406	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000197	"A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." []	565405	\N	\N	EFO	2	EFO	colorectal neoplasm	Colorectal Sessile Serrated Adenoma/Polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000197	"A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." []	1146616	\N	\N	EFO	3	EFO	disease	Colorectal Sessile Serrated Adenoma/Polyp
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000197	"A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." []	1146617	\N	\N	EFO	3	EFO	neoplasm	Colorectal Sessile Serrated Adenoma/Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000197	"A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." []	3180073	\N	\N	EFO	5	EFO	disposition	Colorectal Sessile Serrated Adenoma/Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000197	"A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." []	2029009	\N	\N	EFO	4	EFO	disease	Colorectal Sessile Serrated Adenoma/Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000197	"A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." []	4132870	\N	\N	EFO	6	EFO	material property	Colorectal Sessile Serrated Adenoma/Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000197	"A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." []	5181138	\N	\N	EFO	7	EFO	experimental factor	Colorectal Sessile Serrated Adenoma/Polyp
EFO:1000198	\N	\N	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	69800	\N	\N	EFO	0	EFO	Colorectal Squamous Cell Carcinoma	Colorectal Squamous Cell Carcinoma
EFO:0000405	EFO:1000198	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	212009	\N	\N	EFO	1	EFO	digestive system disease	Colorectal Squamous Cell Carcinoma
EFO:0000707	EFO:1000198	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	212010	\N	\N	EFO	1	EFO	squamous cell carcinoma	Colorectal Squamous Cell Carcinoma
EFO:0004142	EFO:1000198	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	212011	\N	\N	EFO	1	EFO	colorectal neoplasm	Colorectal Squamous Cell Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	565406	\N	\N	EFO	2	EFO	disease	Colorectal Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	565407	\N	\N	EFO	2	EFO	carcinoma	Colorectal Squamous Cell Carcinoma
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	565408	\N	\N	EFO	2	EFO	neoplasm	Colorectal Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	4066744	\N	\N	EFO	6	EFO	disposition	Colorectal Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	1146619	\N	\N	EFO	3	EFO	cancer	Colorectal Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	1146620	\N	\N	EFO	3	EFO	epithelial neoplasm	Colorectal Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	3180075	\N	\N	EFO	5	EFO	disease	Colorectal Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	5028347	\N	\N	EFO	7	EFO	material property	Colorectal Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	2029011	\N	\N	EFO	4	EFO	neoplasm	Colorectal Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	2029012	\N	\N	EFO	4	EFO	neoplasm	Colorectal Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000198	"A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." []	5817386	\N	\N	EFO	8	EFO	experimental factor	Colorectal Squamous Cell Carcinoma
EFO:1000199	\N	\N	"A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." []	EFO:1000199	"A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." []	69801	\N	\N	EFO	0	EFO	Columnar Cell Hyperplasia of the Breast	Columnar Cell Hyperplasia of the Breast
EFO:0000536	EFO:1000199	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1000199	"A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." []	212012	\N	\N	EFO	1	EFO	hyperplasia	Columnar Cell Hyperplasia of the Breast
EFO:0003869	EFO:1000199	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:1000199	"A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." []	212013	\N	\N	EFO	1	EFO	breast neoplasm	Columnar Cell Hyperplasia of the Breast
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000199	"A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." []	565409	\N	\N	EFO	2	EFO	disease	Columnar Cell Hyperplasia of the Breast
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000199	"A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." []	565410	\N	\N	EFO	2	EFO	neoplasm	Columnar Cell Hyperplasia of the Breast
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000199	"A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." []	2029015	\N	\N	EFO	4	EFO	disposition	Columnar Cell Hyperplasia of the Breast
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000199	"A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." []	1146623	\N	\N	EFO	3	EFO	disease	Columnar Cell Hyperplasia of the Breast
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000199	"A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." []	2999948	\N	\N	EFO	5	EFO	material property	Columnar Cell Hyperplasia of the Breast
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000199	"A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." []	4132872	\N	\N	EFO	6	EFO	experimental factor	Columnar Cell Hyperplasia of the Breast
EFO:1000200	\N	\N	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	69802	\N	\N	EFO	0	EFO	Combined Lung Carcinoma	Combined Lung Carcinoma
EFO:0001071	EFO:1000200	\N	"Tumors or cancer of the LUNG." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	212014	\N	\N	EFO	1	EFO	lung carcinoma	Combined Lung Carcinoma
EFO:0003769	EFO:1000200	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	212015	\N	\N	EFO	1	EFO	endocrine neoplasm	Combined Lung Carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	565411	\N	\N	EFO	2	EFO	carcinoma	Combined Lung Carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	565412	\N	\N	EFO	2	EFO	lung disease	Combined Lung Carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	565413	\N	\N	EFO	2	EFO	respiratory system neoplasm	Combined Lung Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	565414	\N	\N	EFO	2	EFO	neoplasm	Combined Lung Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	565415	\N	\N	EFO	2	EFO	endocrine system disease	Combined Lung Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	1146624	\N	\N	EFO	3	EFO	cancer	Combined Lung Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	1146625	\N	\N	EFO	3	EFO	epithelial neoplasm	Combined Lung Carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	1146626	\N	\N	EFO	3	EFO	respiratory system disease	Combined Lung Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	1146627	\N	\N	EFO	3	EFO	neoplasm	Combined Lung Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	1146628	\N	\N	EFO	3	EFO	respiratory system disease	Combined Lung Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	3180077	\N	\N	EFO	5	EFO	disease	Combined Lung Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	1146630	\N	\N	EFO	3	EFO	disease	Combined Lung Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	2029016	\N	\N	EFO	4	EFO	neoplasm	Combined Lung Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	2029017	\N	\N	EFO	4	EFO	neoplasm	Combined Lung Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	2029018	\N	\N	EFO	4	EFO	disease	Combined Lung Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	4066745	\N	\N	EFO	6	EFO	disposition	Combined Lung Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	5059415	\N	\N	EFO	7	EFO	material property	Combined Lung Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000200	"A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." []	5876585	\N	\N	EFO	8	EFO	experimental factor	Combined Lung Carcinoma
EFO:1000201	\N	\N	"URL: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7588&ns=NCI_Thesaurus" []	EFO:1000201	"URL: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7588&ns=NCI_Thesaurus" []	69803	\N	\N	EFO	0	EFO	Common Hematopoietic Neoplasm	Common Hematopoietic Neoplasm
EFO:0000616	EFO:1000201	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000201	"URL: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7588&ns=NCI_Thesaurus" []	212016	\N	\N	EFO	1	EFO	neoplasm	Common Hematopoietic Neoplasm
EFO:0005803	EFO:1000201	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000201	"URL: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7588&ns=NCI_Thesaurus" []	212017	\N	\N	EFO	1	EFO	hematological system disease	Common Hematopoietic Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000201	"URL: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7588&ns=NCI_Thesaurus" []	565416	\N	\N	EFO	2	EFO	disease	Common Hematopoietic Neoplasm
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000201	"URL: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7588&ns=NCI_Thesaurus" []	565417	\N	\N	EFO	2	EFO	disease	Common Hematopoietic Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000201	"URL: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7588&ns=NCI_Thesaurus" []	1146631	\N	\N	EFO	3	EFO	disposition	Common Hematopoietic Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000201	"URL: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7588&ns=NCI_Thesaurus" []	2029021	\N	\N	EFO	4	EFO	material property	Common Hematopoietic Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000201	"URL: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7588&ns=NCI_Thesaurus" []	3180079	\N	\N	EFO	5	EFO	experimental factor	Common Hematopoietic Neoplasm
EFO:1000202	\N	\N	"A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." []	EFO:1000202	"A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." []	69804	\N	\N	EFO	0	EFO	Complex Endometrial Hyperplasia	Complex Endometrial Hyperplasia
EFO:0000512	EFO:1000202	\N	"any diease of the reproductive system" []	EFO:1000202	"A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." []	212018	\N	\N	EFO	1	EFO	reproductive system disease	Complex Endometrial Hyperplasia
EFO:0000536	EFO:1000202	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1000202	"A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." []	212019	\N	\N	EFO	1	EFO	hyperplasia	Complex Endometrial Hyperplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000202	"A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." []	565418	\N	\N	EFO	2	EFO	disease	Complex Endometrial Hyperplasia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000202	"A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." []	565419	\N	\N	EFO	2	EFO	disease	Complex Endometrial Hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000202	"A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." []	1146632	\N	\N	EFO	3	EFO	disposition	Complex Endometrial Hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000202	"A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." []	2029022	\N	\N	EFO	4	EFO	material property	Complex Endometrial Hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000202	"A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." []	3180080	\N	\N	EFO	5	EFO	experimental factor	Complex Endometrial Hyperplasia
EFO:1000203	\N	\N	"Any disorder of the conjunctiva. " []	EFO:1000203	"Any disorder of the conjunctiva. " []	69805	\N	\N	EFO	0	EFO	Conjunctival Disorder	Conjunctival Disorder
EFO:0003966	EFO:1000203	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000203	"Any disorder of the conjunctiva. " []	212020	\N	\N	EFO	1	EFO	eye disease	Conjunctival Disorder
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000203	"Any disorder of the conjunctiva. " []	565420	\N	\N	EFO	2	EFO	disease	Conjunctival Disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000203	"Any disorder of the conjunctiva. " []	1146633	\N	\N	EFO	3	EFO	disposition	Conjunctival Disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000203	"Any disorder of the conjunctiva. " []	2029023	\N	\N	EFO	4	EFO	material property	Conjunctival Disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000203	"Any disorder of the conjunctiva. " []	3180081	\N	\N	EFO	5	EFO	experimental factor	Conjunctival Disorder
EFO:1000204	\N	\N	"A malignant melanoma within the conjunctiva of the eye." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	69806	\N	\N	EFO	0	EFO	Conjunctival Melanoma	Conjunctival Melanoma
EFO:0000756	EFO:1000204	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	212021	\N	\N	EFO	1	EFO	melanoma	Conjunctival Melanoma
EFO:0003824	EFO:1000204	\N	"Tumors or cancer of the EYE." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	212022	\N	\N	EFO	1	EFO	eye neoplasm	Conjunctival Melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	565421	\N	\N	EFO	2	EFO	carcinoma	Conjunctival Melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	565422	\N	\N	EFO	2	EFO	skin neoplasm	Conjunctival Melanoma
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	565423	\N	\N	EFO	2	EFO	neoplasm	Conjunctival Melanoma
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	565424	\N	\N	EFO	2	EFO	eye disease	Conjunctival Melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	1146634	\N	\N	EFO	3	EFO	cancer	Conjunctival Melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	1146635	\N	\N	EFO	3	EFO	epithelial neoplasm	Conjunctival Melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	1146636	\N	\N	EFO	3	EFO	neoplasm	Conjunctival Melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	1146637	\N	\N	EFO	3	EFO	skin disease	Conjunctival Melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	3180082	\N	\N	EFO	5	EFO	disease	Conjunctival Melanoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	1146639	\N	\N	EFO	3	EFO	disease	Conjunctival Melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	2029024	\N	\N	EFO	4	EFO	neoplasm	Conjunctival Melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	2029025	\N	\N	EFO	4	EFO	neoplasm	Conjunctival Melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	2029027	\N	\N	EFO	4	EFO	disease	Conjunctival Melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	4066746	\N	\N	EFO	6	EFO	disposition	Conjunctival Melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	5059416	\N	\N	EFO	7	EFO	material property	Conjunctival Melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000204	"A malignant melanoma within the conjunctiva of the eye." []	5876586	\N	\N	EFO	8	EFO	experimental factor	Conjunctival Melanoma
EFO:1000205	\N	\N	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	69807	\N	\N	EFO	0	EFO	Conjunctival Nevus	Conjunctival Nevus
EFO:0000625	EFO:1000205	\N	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	212023	\N	\N	EFO	1	EFO	nevus	Conjunctival Nevus
EFO:0003824	EFO:1000205	\N	"Tumors or cancer of the EYE." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	212024	\N	\N	EFO	1	EFO	eye neoplasm	Conjunctival Nevus
EFO:0002422	EFO:0000625	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	565425	\N	\N	EFO	2	EFO	benign neoplasm	Conjunctival Nevus
EFO:0004198	EFO:0000625	\N	"Tumors or cancer of the SKIN." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	565426	\N	\N	EFO	2	EFO	skin neoplasm	Conjunctival Nevus
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	565427	\N	\N	EFO	2	EFO	neoplasm	Conjunctival Nevus
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	565428	\N	\N	EFO	2	EFO	eye disease	Conjunctival Nevus
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	1146640	\N	\N	EFO	3	EFO	neoplasm	Conjunctival Nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	1146641	\N	\N	EFO	3	EFO	neoplasm	Conjunctival Nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	1146642	\N	\N	EFO	3	EFO	skin disease	Conjunctival Nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	2029029	\N	\N	EFO	4	EFO	disease	Conjunctival Nevus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	1146644	\N	\N	EFO	3	EFO	disease	Conjunctival Nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	2029030	\N	\N	EFO	4	EFO	disease	Conjunctival Nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	2999951	\N	\N	EFO	5	EFO	disposition	Conjunctival Nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	4132875	\N	\N	EFO	6	EFO	material property	Conjunctival Nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000205	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4551&ns=NCI_Thesaurus" []	5181141	\N	\N	EFO	7	EFO	experimental factor	Conjunctival Nevus
EFO:1000206	\N	\N	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	69808	\N	\N	EFO	0	EFO	Conjunctival Squamous Cell Carcinoma	Conjunctival Squamous Cell Carcinoma
EFO:0000707	EFO:1000206	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	212025	\N	\N	EFO	1	EFO	squamous cell carcinoma	Conjunctival Squamous Cell Carcinoma
EFO:0003824	EFO:1000206	\N	"Tumors or cancer of the EYE." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	212026	\N	\N	EFO	1	EFO	eye neoplasm	Conjunctival Squamous Cell Carcinoma
EFO:0005950	EFO:1000206	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	212027	\N	\N	EFO	1	EFO	head and neck neoplasia	Conjunctival Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	565429	\N	\N	EFO	2	EFO	carcinoma	Conjunctival Squamous Cell Carcinoma
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	565430	\N	\N	EFO	2	EFO	neoplasm	Conjunctival Squamous Cell Carcinoma
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	565431	\N	\N	EFO	2	EFO	eye disease	Conjunctival Squamous Cell Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	565432	\N	\N	EFO	2	EFO	head disease	Conjunctival Squamous Cell Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	565433	\N	\N	EFO	2	EFO	neoplasm	Conjunctival Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	1146645	\N	\N	EFO	3	EFO	cancer	Conjunctival Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	1146646	\N	\N	EFO	3	EFO	epithelial neoplasm	Conjunctival Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	3180085	\N	\N	EFO	5	EFO	disease	Conjunctival Squamous Cell Carcinoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	1146648	\N	\N	EFO	3	EFO	disease	Conjunctival Squamous Cell Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	1146649	\N	\N	EFO	3	EFO	disease	Conjunctival Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	2029032	\N	\N	EFO	4	EFO	neoplasm	Conjunctival Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	2029033	\N	\N	EFO	4	EFO	neoplasm	Conjunctival Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	4066747	\N	\N	EFO	6	EFO	disposition	Conjunctival Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	5059417	\N	\N	EFO	7	EFO	material property	Conjunctival Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000206	"A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." []	5876587	\N	\N	EFO	8	EFO	experimental factor	Conjunctival Squamous Cell Carcinoma
EFO:1000208	\N	\N	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	EFO:1000208	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	69809	\N	\N	EFO	0	EFO	Cortisol-Producing Adrenal Cortex Adenoma	Cortisol-Producing Adrenal Cortex Adenoma
EFO:0000232	EFO:1000208	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000208	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	212028	\N	\N	EFO	1	EFO	adenoma	Cortisol-Producing Adrenal Cortex Adenoma
EFO:0003769	EFO:1000208	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000208	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	212029	\N	\N	EFO	1	EFO	endocrine neoplasm	Cortisol-Producing Adrenal Cortex Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000208	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	565434	\N	\N	EFO	2	EFO	benign neoplasm	Cortisol-Producing Adrenal Cortex Adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000208	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	565435	\N	\N	EFO	2	EFO	neoplasm	Cortisol-Producing Adrenal Cortex Adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000208	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	565436	\N	\N	EFO	2	EFO	endocrine system disease	Cortisol-Producing Adrenal Cortex Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000208	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	1146650	\N	\N	EFO	3	EFO	neoplasm	Cortisol-Producing Adrenal Cortex Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000208	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	2029035	\N	\N	EFO	4	EFO	disease	Cortisol-Producing Adrenal Cortex Adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000208	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	1146652	\N	\N	EFO	3	EFO	disease	Cortisol-Producing Adrenal Cortex Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000208	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	2999952	\N	\N	EFO	5	EFO	disposition	Cortisol-Producing Adrenal Cortex Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000208	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	4132876	\N	\N	EFO	6	EFO	material property	Cortisol-Producing Adrenal Cortex Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000208	"An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." []	5181142	\N	\N	EFO	7	EFO	experimental factor	Cortisol-Producing Adrenal Cortex Adenoma
EFO:1000209	\N	\N	"A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" []	EFO:1000209	"A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" []	69810	\N	\N	EFO	0	EFO	Craniopharyngioma	Craniopharyngioma
EFO:0003833	EFO:1000209	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000209	"A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" []	212030	\N	\N	EFO	1	EFO	brain neoplasm	Craniopharyngioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000209	"A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" []	565437	\N	\N	EFO	2	EFO	neoplasm	Craniopharyngioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000209	"A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" []	565438	\N	\N	EFO	2	EFO	brain disease	Craniopharyngioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000209	"A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" []	1146653	\N	\N	EFO	3	EFO	disease	Craniopharyngioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000209	"A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" []	1146654	\N	\N	EFO	3	EFO	nervous system disease	Craniopharyngioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000209	"A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" []	3180089	\N	\N	EFO	5	EFO	disposition	Craniopharyngioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000209	"A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" []	2029038	\N	\N	EFO	4	EFO	disease	Craniopharyngioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000209	"A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" []	4132877	\N	\N	EFO	6	EFO	material property	Craniopharyngioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000209	"A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" []	5181143	\N	\N	EFO	7	EFO	experimental factor	Craniopharyngioma
EFO:1000210	\N	\N	"A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." []	EFO:1000210	"A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." []	69811	\N	\N	EFO	0	EFO	Cribriform Carcinoma	Cribriform Carcinoma
EFO:0000313	EFO:1000210	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000210	"A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." []	212031	\N	\N	EFO	1	EFO	carcinoma	Cribriform Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000210	"A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." []	565439	\N	\N	EFO	2	EFO	cancer	Cribriform Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000210	"A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." []	565440	\N	\N	EFO	2	EFO	epithelial neoplasm	Cribriform Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000210	"A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." []	1146655	\N	\N	EFO	3	EFO	neoplasm	Cribriform Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000210	"A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." []	1146656	\N	\N	EFO	3	EFO	neoplasm	Cribriform Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000210	"A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." []	2029039	\N	\N	EFO	4	EFO	disease	Cribriform Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000210	"A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." []	3180090	\N	\N	EFO	5	EFO	disposition	Cribriform Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000210	"A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." []	4388989	\N	\N	EFO	6	EFO	material property	Cribriform Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000210	"A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." []	5409077	\N	\N	EFO	7	EFO	experimental factor	Cribriform Carcinoma
EFO:1000211	\N	\N	"A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003" []	EFO:1000211	"A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003" []	69812	\N	\N	EFO	0	EFO	Cutaneous Follicular Lymphoma	Cutaneous Follicular Lymphoma
EFO:0004198	EFO:1000211	\N	"Tumors or cancer of the SKIN." []	EFO:1000211	"A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003" []	212032	\N	\N	EFO	1	EFO	skin neoplasm	Cutaneous Follicular Lymphoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000211	"A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003" []	565441	\N	\N	EFO	2	EFO	neoplasm	Cutaneous Follicular Lymphoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000211	"A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003" []	565442	\N	\N	EFO	2	EFO	skin disease	Cutaneous Follicular Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000211	"A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003" []	1146657	\N	\N	EFO	3	EFO	disease	Cutaneous Follicular Lymphoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000211	"A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003" []	1146658	\N	\N	EFO	3	EFO	disease	Cutaneous Follicular Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000211	"A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003" []	2029040	\N	\N	EFO	4	EFO	disposition	Cutaneous Follicular Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000211	"A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003" []	3180091	\N	\N	EFO	5	EFO	material property	Cutaneous Follicular Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000211	"A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003" []	4388990	\N	\N	EFO	6	EFO	experimental factor	Cutaneous Follicular Lymphoma
EFO:1000212	\N	\N	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	EFO:1000212	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	69813	\N	\N	EFO	0	EFO	Cutaneous Undifferentiated Pleomorphic Sarcoma	Cutaneous Undifferentiated Pleomorphic Sarcoma
EFO:0000691	EFO:1000212	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000212	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	212033	\N	\N	EFO	1	EFO	sarcoma	Cutaneous Undifferentiated Pleomorphic Sarcoma
EFO:0004198	EFO:1000212	\N	"Tumors or cancer of the SKIN." []	EFO:1000212	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	212034	\N	\N	EFO	1	EFO	skin neoplasm	Cutaneous Undifferentiated Pleomorphic Sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000212	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	565443	\N	\N	EFO	2	EFO	cancer	Cutaneous Undifferentiated Pleomorphic Sarcoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000212	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	565444	\N	\N	EFO	2	EFO	neoplasm	Cutaneous Undifferentiated Pleomorphic Sarcoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000212	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	565445	\N	\N	EFO	2	EFO	skin disease	Cutaneous Undifferentiated Pleomorphic Sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000212	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	1146659	\N	\N	EFO	3	EFO	neoplasm	Cutaneous Undifferentiated Pleomorphic Sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000212	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	2029041	\N	\N	EFO	4	EFO	disease	Cutaneous Undifferentiated Pleomorphic Sarcoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000212	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	1146661	\N	\N	EFO	3	EFO	disease	Cutaneous Undifferentiated Pleomorphic Sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000212	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	2999953	\N	\N	EFO	5	EFO	disposition	Cutaneous Undifferentiated Pleomorphic Sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000212	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	4132878	\N	\N	EFO	6	EFO	material property	Cutaneous Undifferentiated Pleomorphic Sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000212	"An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." []	5181144	\N	\N	EFO	7	EFO	experimental factor	Cutaneous Undifferentiated Pleomorphic Sarcoma
EFO:1000213	\N	\N	"A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." []	EFO:1000213	"A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." []	69814	\N	\N	EFO	0	EFO	Cystic Nephroma	Cystic Nephroma
EFO:0003865	EFO:1000213	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000213	"A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." []	212035	\N	\N	EFO	1	EFO	kidney neoplasm	Cystic Nephroma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000213	"A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." []	565446	\N	\N	EFO	2	EFO	kidney disease	Cystic Nephroma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000213	"A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." []	565447	\N	\N	EFO	2	EFO	urogenital neoplasm	Cystic Nephroma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000213	"A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." []	1146662	\N	\N	EFO	3	EFO	disease	Cystic Nephroma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000213	"A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." []	1146663	\N	\N	EFO	3	EFO	neoplasm	Cystic Nephroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000213	"A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." []	3180094	\N	\N	EFO	5	EFO	disposition	Cystic Nephroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000213	"A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." []	2029044	\N	\N	EFO	4	EFO	disease	Cystic Nephroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000213	"A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." []	4132879	\N	\N	EFO	6	EFO	material property	Cystic Nephroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000213	"A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." []	5181145	\N	\N	EFO	7	EFO	experimental factor	Cystic Nephroma
EFO:1000214	\N	\N	"A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." []	EFO:1000214	"A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." []	69815	\N	\N	EFO	0	EFO	Dedifferentiated Solitary Fibrous Tumor	Dedifferentiated Solitary Fibrous Tumor
EFO:0000313	EFO:1000214	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000214	"A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." []	212036	\N	\N	EFO	1	EFO	carcinoma	Dedifferentiated Solitary Fibrous Tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000214	"A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." []	565448	\N	\N	EFO	2	EFO	cancer	Dedifferentiated Solitary Fibrous Tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000214	"A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." []	565449	\N	\N	EFO	2	EFO	epithelial neoplasm	Dedifferentiated Solitary Fibrous Tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000214	"A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." []	1146664	\N	\N	EFO	3	EFO	neoplasm	Dedifferentiated Solitary Fibrous Tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000214	"A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." []	1146665	\N	\N	EFO	3	EFO	neoplasm	Dedifferentiated Solitary Fibrous Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000214	"A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." []	2029045	\N	\N	EFO	4	EFO	disease	Dedifferentiated Solitary Fibrous Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000214	"A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." []	3180095	\N	\N	EFO	5	EFO	disposition	Dedifferentiated Solitary Fibrous Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000214	"A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." []	4388993	\N	\N	EFO	6	EFO	material property	Dedifferentiated Solitary Fibrous Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000214	"A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." []	5409078	\N	\N	EFO	7	EFO	experimental factor	Dedifferentiated Solitary Fibrous Tumor
EFO:1000215	\N	\N	"An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." []	EFO:1000215	"An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." []	69816	\N	\N	EFO	0	EFO	Desmoplastic Ameloblastoma	Desmoplastic Ameloblastoma
EFO:0000616	EFO:1000215	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000215	"An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." []	212037	\N	\N	EFO	1	EFO	neoplasm	Desmoplastic Ameloblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000215	"An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." []	565450	\N	\N	EFO	2	EFO	disease	Desmoplastic Ameloblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000215	"An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." []	1146666	\N	\N	EFO	3	EFO	disposition	Desmoplastic Ameloblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000215	"An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." []	2029046	\N	\N	EFO	4	EFO	material property	Desmoplastic Ameloblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000215	"An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." []	3180096	\N	\N	EFO	5	EFO	experimental factor	Desmoplastic Ameloblastoma
EFO:1000216	\N	\N	"A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" []	EFO:1000216	"A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" []	69817	\N	\N	EFO	0	EFO	Diffuse Melanocytosis	Diffuse Melanocytosis
EFO:0003851	EFO:1000216	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000216	"A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" []	212038	\N	\N	EFO	1	EFO	meningeal neoplasm	Diffuse Melanocytosis
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000216	"A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" []	565451	\N	\N	EFO	2	EFO	brain neoplasm	Diffuse Melanocytosis
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000216	"A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" []	1146667	\N	\N	EFO	3	EFO	neoplasm	Diffuse Melanocytosis
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000216	"A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" []	1146668	\N	\N	EFO	3	EFO	brain disease	Diffuse Melanocytosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000216	"A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" []	2029047	\N	\N	EFO	4	EFO	disease	Diffuse Melanocytosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000216	"A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" []	2029048	\N	\N	EFO	4	EFO	nervous system disease	Diffuse Melanocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000216	"A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" []	4388995	\N	\N	EFO	6	EFO	disposition	Diffuse Melanocytosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000216	"A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" []	3180098	\N	\N	EFO	5	EFO	disease	Diffuse Melanocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000216	"A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" []	5181146	\N	\N	EFO	7	EFO	material property	Diffuse Melanocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000216	"A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" []	5996658	\N	\N	EFO	8	EFO	experimental factor	Diffuse Melanocytosis
EFO:1000217	\N	\N	"A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." []	EFO:1000217	"A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." []	69818	\N	\N	EFO	0	EFO	Digestive System Adenoma	Digestive System Adenoma
EFO:0000232	EFO:1000217	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000217	"A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." []	212039	\N	\N	EFO	1	EFO	adenoma	Digestive System Adenoma
EFO:0000405	EFO:1000217	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000217	"A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." []	212040	\N	\N	EFO	1	EFO	digestive system disease	Digestive System Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000217	"A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." []	565452	\N	\N	EFO	2	EFO	benign neoplasm	Digestive System Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000217	"A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." []	565453	\N	\N	EFO	2	EFO	disease	Digestive System Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000217	"A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." []	1146669	\N	\N	EFO	3	EFO	neoplasm	Digestive System Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000217	"A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." []	3180099	\N	\N	EFO	5	EFO	disposition	Digestive System Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000217	"A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." []	2029049	\N	\N	EFO	4	EFO	disease	Digestive System Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000217	"A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." []	4066748	\N	\N	EFO	6	EFO	material property	Digestive System Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000217	"A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." []	5059418	\N	\N	EFO	7	EFO	experimental factor	Digestive System Adenoma
EFO:1000218	\N	\N	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	EFO:1000218	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	69819	\N	\N	EFO	0	EFO	Digestive System Carcinoma	Digestive System Carcinoma
EFO:0000313	EFO:1000218	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000218	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	212041	\N	\N	EFO	1	EFO	carcinoma	Digestive System Carcinoma
EFO:0000405	EFO:1000218	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000218	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	212042	\N	\N	EFO	1	EFO	digestive system disease	Digestive System Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000218	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	565454	\N	\N	EFO	2	EFO	cancer	Digestive System Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000218	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	565455	\N	\N	EFO	2	EFO	epithelial neoplasm	Digestive System Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000218	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	565456	\N	\N	EFO	2	EFO	disease	Digestive System Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000218	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	1146671	\N	\N	EFO	3	EFO	neoplasm	Digestive System Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000218	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	1146672	\N	\N	EFO	3	EFO	neoplasm	Digestive System Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000218	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	3180101	\N	\N	EFO	5	EFO	disposition	Digestive System Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000218	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	2029051	\N	\N	EFO	4	EFO	disease	Digestive System Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000218	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	4066749	\N	\N	EFO	6	EFO	material property	Digestive System Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000218	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	5059419	\N	\N	EFO	7	EFO	experimental factor	Digestive System Carcinoma
EFO:1000219	\N	\N	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	EFO:1000219	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	69820	\N	\N	EFO	0	EFO	Digestive System Mixed Adenoneuroendocrine Carcinoma	Digestive System Mixed Adenoneuroendocrine Carcinoma
EFO:0000313	EFO:1000219	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000219	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	212043	\N	\N	EFO	1	EFO	carcinoma	Digestive System Mixed Adenoneuroendocrine Carcinoma
EFO:0000405	EFO:1000219	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000219	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	212044	\N	\N	EFO	1	EFO	digestive system disease	Digestive System Mixed Adenoneuroendocrine Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000219	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	565457	\N	\N	EFO	2	EFO	cancer	Digestive System Mixed Adenoneuroendocrine Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000219	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	565458	\N	\N	EFO	2	EFO	epithelial neoplasm	Digestive System Mixed Adenoneuroendocrine Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000219	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	565459	\N	\N	EFO	2	EFO	disease	Digestive System Mixed Adenoneuroendocrine Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000219	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	1146674	\N	\N	EFO	3	EFO	neoplasm	Digestive System Mixed Adenoneuroendocrine Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000219	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	1146675	\N	\N	EFO	3	EFO	neoplasm	Digestive System Mixed Adenoneuroendocrine Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000219	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	3180103	\N	\N	EFO	5	EFO	disposition	Digestive System Mixed Adenoneuroendocrine Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000219	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	2029053	\N	\N	EFO	4	EFO	disease	Digestive System Mixed Adenoneuroendocrine Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000219	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	4066750	\N	\N	EFO	6	EFO	material property	Digestive System Mixed Adenoneuroendocrine Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000219	"A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." []	5059420	\N	\N	EFO	7	EFO	experimental factor	Digestive System Mixed Adenoneuroendocrine Carcinoma
EFO:1000220	\N	\N	"A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." []	EFO:1000220	"A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." []	69821	\N	\N	EFO	0	EFO	Disseminated Peritoneal Leiomyomatosis	Disseminated Peritoneal Leiomyomatosis
EFO:0000616	EFO:1000220	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000220	"A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." []	212045	\N	\N	EFO	1	EFO	neoplasm	Disseminated Peritoneal Leiomyomatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000220	"A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." []	565460	\N	\N	EFO	2	EFO	disease	Disseminated Peritoneal Leiomyomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000220	"A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." []	1146677	\N	\N	EFO	3	EFO	disposition	Disseminated Peritoneal Leiomyomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000220	"A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." []	2029055	\N	\N	EFO	4	EFO	material property	Disseminated Peritoneal Leiomyomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000220	"A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." []	3180105	\N	\N	EFO	5	EFO	experimental factor	Disseminated Peritoneal Leiomyomatosis
EFO:1000221	\N	\N	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	69822	\N	\N	EFO	0	EFO	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0000305	EFO:1000221	\N	"Tumors or cancer of the human BREAST." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	212046	\N	\N	EFO	1	EFO	breast carcinoma	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0006318	EFO:1000221	\N	"A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.\\n\\nNCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. " []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	212047	\N	\N	EFO	1	EFO	breast ductal adenocarcinoma	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	565461	\N	\N	EFO	2	EFO	carcinoma	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0000430	EFO:0006318	\N	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	565462	\N	\N	EFO	2	EFO	ductal adenocarcinoma	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0003869	EFO:0006318	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	565463	\N	\N	EFO	2	EFO	breast neoplasm	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	3180107	\N	\N	EFO	5	EFO	cancer	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	3180108	\N	\N	EFO	5	EFO	epithelial neoplasm	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0000228	EFO:0000430	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	1146680	\N	\N	EFO	3	EFO	adenocarcinoma	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	1146681	\N	\N	EFO	3	EFO	neoplasm	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	4066751	\N	\N	EFO	6	EFO	neoplasm	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	4066752	\N	\N	EFO	6	EFO	neoplasm	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	2029058	\N	\N	EFO	4	EFO	carcinoma	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	5059421	\N	\N	EFO	7	EFO	disease	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	5817387	\N	\N	EFO	8	EFO	disposition	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	6409762	\N	\N	EFO	9	EFO	material property	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000221	"The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." []	6807630	\N	\N	EFO	10	EFO	experimental factor	Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
EFO:1000222	\N	\N	"A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver." []	EFO:1000222	"A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver." []	69823	\N	\N	EFO	0	EFO	Ductal or Ductular Proliferation	Ductal or Ductular Proliferation
EFO:0000616	EFO:1000222	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000222	"A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver." []	212048	\N	\N	EFO	1	EFO	neoplasm	Ductal or Ductular Proliferation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000222	"A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver." []	565464	\N	\N	EFO	2	EFO	disease	Ductal or Ductular Proliferation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000222	"A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver." []	1146682	\N	\N	EFO	3	EFO	disposition	Ductal or Ductular Proliferation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000222	"A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver." []	2029060	\N	\N	EFO	4	EFO	material property	Ductal or Ductular Proliferation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000222	"A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver." []	3180110	\N	\N	EFO	5	EFO	experimental factor	Ductal or Ductular Proliferation
EFO:1000223	\N	\N	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	69824	\N	\N	EFO	0	EFO	Duodenal Adenocarcinoma	Duodenal Adenocarcinoma
EFO:1000532	EFO:1000223	\N	"" []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	212049	\N	\N	EFO	1	EFO	small intestinal adenocarcinoma	Duodenal Adenocarcinoma
EFO:0000228	EFO:1000532	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	565465	\N	\N	EFO	2	EFO	adenocarcinoma	Duodenal Adenocarcinoma
EFO:0000405	EFO:1000532	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	565466	\N	\N	EFO	2	EFO	digestive system disease	Duodenal Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	1146683	\N	\N	EFO	3	EFO	carcinoma	Duodenal Adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	1146684	\N	\N	EFO	3	EFO	disease	Duodenal Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	2029061	\N	\N	EFO	4	EFO	cancer	Duodenal Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	2029062	\N	\N	EFO	4	EFO	epithelial neoplasm	Duodenal Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	5409081	\N	\N	EFO	7	EFO	disposition	Duodenal Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	3180111	\N	\N	EFO	5	EFO	neoplasm	Duodenal Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	3180112	\N	\N	EFO	5	EFO	neoplasm	Duodenal Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	5817388	\N	\N	EFO	8	EFO	material property	Duodenal Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	4388997	\N	\N	EFO	6	EFO	disease	Duodenal Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000223	"An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." []	6409763	\N	\N	EFO	9	EFO	experimental factor	Duodenal Adenocarcinoma
EFO:1000224	\N	\N	"A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." []	EFO:1000224	"A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." []	69825	\N	\N	EFO	0	EFO	Duodenal Gastrin-Producing Neuroendocrine Tumor	Duodenal Gastrin-Producing Neuroendocrine Tumor
EFO:0000405	EFO:1000224	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000224	"A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." []	212050	\N	\N	EFO	1	EFO	digestive system disease	Duodenal Gastrin-Producing Neuroendocrine Tumor
EFO:0003769	EFO:1000224	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000224	"A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." []	212051	\N	\N	EFO	1	EFO	endocrine neoplasm	Duodenal Gastrin-Producing Neuroendocrine Tumor
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000224	"A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." []	565467	\N	\N	EFO	2	EFO	disease	Duodenal Gastrin-Producing Neuroendocrine Tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000224	"A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." []	565468	\N	\N	EFO	2	EFO	neoplasm	Duodenal Gastrin-Producing Neuroendocrine Tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000224	"A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." []	565469	\N	\N	EFO	2	EFO	endocrine system disease	Duodenal Gastrin-Producing Neuroendocrine Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000224	"A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." []	2029065	\N	\N	EFO	4	EFO	disposition	Duodenal Gastrin-Producing Neuroendocrine Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000224	"A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." []	1146686	\N	\N	EFO	3	EFO	disease	Duodenal Gastrin-Producing Neuroendocrine Tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000224	"A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." []	1146687	\N	\N	EFO	3	EFO	disease	Duodenal Gastrin-Producing Neuroendocrine Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000224	"A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." []	2999954	\N	\N	EFO	5	EFO	material property	Duodenal Gastrin-Producing Neuroendocrine Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000224	"A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." []	4132881	\N	\N	EFO	6	EFO	experimental factor	Duodenal Gastrin-Producing Neuroendocrine Tumor
EFO:1000225	\N	\N	"A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	EFO:1000225	"A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	69826	\N	\N	EFO	0	EFO	Duodenal Villous Adenoma	Duodenal Villous Adenoma
EFO:0000232	EFO:1000225	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000225	"A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	212052	\N	\N	EFO	1	EFO	adenoma	Duodenal Villous Adenoma
EFO:0000405	EFO:1000225	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000225	"A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	212053	\N	\N	EFO	1	EFO	digestive system disease	Duodenal Villous Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000225	"A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	565470	\N	\N	EFO	2	EFO	benign neoplasm	Duodenal Villous Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000225	"A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	565471	\N	\N	EFO	2	EFO	disease	Duodenal Villous Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000225	"A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	1146688	\N	\N	EFO	3	EFO	neoplasm	Duodenal Villous Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000225	"A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	3180115	\N	\N	EFO	5	EFO	disposition	Duodenal Villous Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000225	"A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	2029066	\N	\N	EFO	4	EFO	disease	Duodenal Villous Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000225	"A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	4066753	\N	\N	EFO	6	EFO	material property	Duodenal Villous Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000225	"A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	5059422	\N	\N	EFO	7	EFO	experimental factor	Duodenal Villous Adenoma
EFO:1000226	\N	\N	"A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis." []	EFO:1000226	"A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis." []	69827	\N	\N	EFO	0	EFO	Dysplasia in Ulcerative Colitis	Dysplasia in Ulcerative Colitis
EFO:0003897	EFO:1000226	\N	"Tumors or cancer of the STOMACH." []	EFO:1000226	"A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis." []	212054	\N	\N	EFO	1	EFO	stomach neoplasm	Dysplasia in Ulcerative Colitis
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000226	"A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis." []	565472	\N	\N	EFO	2	EFO	digestive system disease	Dysplasia in Ulcerative Colitis
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000226	"A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis." []	565473	\N	\N	EFO	2	EFO	neoplasm	Dysplasia in Ulcerative Colitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000226	"A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis." []	1146690	\N	\N	EFO	3	EFO	disease	Dysplasia in Ulcerative Colitis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000226	"A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis." []	1146691	\N	\N	EFO	3	EFO	disease	Dysplasia in Ulcerative Colitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000226	"A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis." []	2029068	\N	\N	EFO	4	EFO	disposition	Dysplasia in Ulcerative Colitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000226	"A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis." []	3180117	\N	\N	EFO	5	EFO	material property	Dysplasia in Ulcerative Colitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000226	"A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis." []	4388999	\N	\N	EFO	6	EFO	experimental factor	Dysplasia in Ulcerative Colitis
EFO:1000227	\N	\N	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4838&ns=NCI_Thesaurus" []	EFO:1000227	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4838&ns=NCI_Thesaurus" []	69828	\N	\N	EFO	0	EFO	Dysplasia of Larynx	Dysplasia of Larynx
EFO:0003817	EFO:1000227	\N	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	EFO:1000227	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4838&ns=NCI_Thesaurus" []	212055	\N	\N	EFO	1	EFO	laryngeal neoplasm	Dysplasia of Larynx
EFO:0003853	EFO:0003817	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000227	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4838&ns=NCI_Thesaurus" []	565474	\N	\N	EFO	2	EFO	respiratory system neoplasm	Dysplasia of Larynx
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000227	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4838&ns=NCI_Thesaurus" []	1146692	\N	\N	EFO	3	EFO	neoplasm	Dysplasia of Larynx
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000227	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4838&ns=NCI_Thesaurus" []	1146693	\N	\N	EFO	3	EFO	respiratory system disease	Dysplasia of Larynx
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000227	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4838&ns=NCI_Thesaurus" []	2029069	\N	\N	EFO	4	EFO	disease	Dysplasia of Larynx
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000227	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4838&ns=NCI_Thesaurus" []	2029070	\N	\N	EFO	4	EFO	disease	Dysplasia of Larynx
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000227	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4838&ns=NCI_Thesaurus" []	3180118	\N	\N	EFO	5	EFO	disposition	Dysplasia of Larynx
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000227	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4838&ns=NCI_Thesaurus" []	4389000	\N	\N	EFO	6	EFO	material property	Dysplasia of Larynx
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000227	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4838&ns=NCI_Thesaurus" []	5409082	\N	\N	EFO	7	EFO	experimental factor	Dysplasia of Larynx
EFO:1000228	\N	\N	"An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoproliferative disease of childhood and the hydroa vacciniforme-like lymphoma." []	EFO:1000228	"An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoproliferative disease of childhood and the hydroa vacciniforme-like lymphoma." []	69829	\N	\N	EFO	0	EFO	EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood	EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood
EFO:0000574	EFO:1000228	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000228	"An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoproliferative disease of childhood and the hydroa vacciniforme-like lymphoma." []	212056	\N	\N	EFO	1	EFO	lymphoma	EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000228	"An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoproliferative disease of childhood and the hydroa vacciniforme-like lymphoma." []	565475	\N	\N	EFO	2	EFO	lymphoid neoplasm	EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000228	"An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoproliferative disease of childhood and the hydroa vacciniforme-like lymphoma." []	1146694	\N	\N	EFO	3	EFO	cancer	EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000228	"An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoproliferative disease of childhood and the hydroa vacciniforme-like lymphoma." []	1146695	\N	\N	EFO	3	EFO	hematological system disease	EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000228	"An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoproliferative disease of childhood and the hydroa vacciniforme-like lymphoma." []	2029071	\N	\N	EFO	4	EFO	neoplasm	EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000228	"An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoproliferative disease of childhood and the hydroa vacciniforme-like lymphoma." []	2029072	\N	\N	EFO	4	EFO	disease	EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000228	"An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoproliferative disease of childhood and the hydroa vacciniforme-like lymphoma." []	3180119	\N	\N	EFO	5	EFO	disease	EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000228	"An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoproliferative disease of childhood and the hydroa vacciniforme-like lymphoma." []	4389001	\N	\N	EFO	6	EFO	disposition	EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000228	"An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoproliferative disease of childhood and the hydroa vacciniforme-like lymphoma." []	5181148	\N	\N	EFO	7	EFO	material property	EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000228	"An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoproliferative disease of childhood and the hydroa vacciniforme-like lymphoma." []	5996660	\N	\N	EFO	8	EFO	experimental factor	EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood
EFO:1000229	\N	\N	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	69830	\N	\N	EFO	0	EFO	Eccrine Porocarcinoma	Eccrine Porocarcinoma
EFO:0005591	EFO:1000229	\N	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	212057	\N	\N	EFO	1	EFO	sweat gland carcinoma	Eccrine Porocarcinoma
EFO:0000313	EFO:0005591	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	565476	\N	\N	EFO	2	EFO	carcinoma	Eccrine Porocarcinoma
EFO:0004198	EFO:0005591	\N	"Tumors or cancer of the SKIN." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	565477	\N	\N	EFO	2	EFO	skin neoplasm	Eccrine Porocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	1146696	\N	\N	EFO	3	EFO	cancer	Eccrine Porocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	1146697	\N	\N	EFO	3	EFO	epithelial neoplasm	Eccrine Porocarcinoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	1146698	\N	\N	EFO	3	EFO	neoplasm	Eccrine Porocarcinoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	1146699	\N	\N	EFO	3	EFO	skin disease	Eccrine Porocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	2029073	\N	\N	EFO	4	EFO	neoplasm	Eccrine Porocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	2029074	\N	\N	EFO	4	EFO	neoplasm	Eccrine Porocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	3180121	\N	\N	EFO	5	EFO	disease	Eccrine Porocarcinoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	2029076	\N	\N	EFO	4	EFO	disease	Eccrine Porocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	4132882	\N	\N	EFO	6	EFO	disposition	Eccrine Porocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	5181149	\N	\N	EFO	7	EFO	material property	Eccrine Porocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000229	"A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." []	5996661	\N	\N	EFO	8	EFO	experimental factor	Eccrine Porocarcinoma
EFO:1000230	\N	\N	"An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." []	EFO:1000230	"An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." []	69831	\N	\N	EFO	0	EFO	Endolymphatic Sac Tumor	Endolymphatic Sac Tumor
EFO:0000616	EFO:1000230	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000230	"An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." []	212058	\N	\N	EFO	1	EFO	neoplasm	Endolymphatic Sac Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000230	"An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." []	565478	\N	\N	EFO	2	EFO	disease	Endolymphatic Sac Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000230	"An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." []	1146700	\N	\N	EFO	3	EFO	disposition	Endolymphatic Sac Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000230	"An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." []	2029077	\N	\N	EFO	4	EFO	material property	Endolymphatic Sac Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000230	"An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." []	3180123	\N	\N	EFO	5	EFO	experimental factor	Endolymphatic Sac Tumor
EFO:1000231	\N	\N	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	69832	\N	\N	EFO	0	EFO	Endometrial Clear Cell Adenocarcinoma	Endometrial Clear Cell Adenocarcinoma
EFO:0000348	EFO:1000231	\N	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	212059	\N	\N	EFO	1	EFO	clear cell adenocarcinoma	Endometrial Clear Cell Adenocarcinoma
EFO:0005232	EFO:1000231	\N	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	212060	\N	\N	EFO	1	EFO	endometrium adenocarcinoma	Endometrial Clear Cell Adenocarcinoma
EFO:0000228	EFO:0000348	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	565479	\N	\N	EFO	2	EFO	adenocarcinoma	Endometrial Clear Cell Adenocarcinoma
EFO:0000228	EFO:0005232	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	565480	\N	\N	EFO	2	EFO	adenocarcinoma	Endometrial Clear Cell Adenocarcinoma
EFO:1001512	EFO:0005232	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	565481	\N	\N	EFO	2	EFO	endometrial carcinoma	Endometrial Clear Cell Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	1146701	\N	\N	EFO	3	EFO	carcinoma	Endometrial Clear Cell Adenocarcinoma
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	1146702	\N	\N	EFO	3	EFO	carcinoma	Endometrial Clear Cell Adenocarcinoma
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	1146703	\N	\N	EFO	3	EFO	endometrial neoplasm	Endometrial Clear Cell Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	2029078	\N	\N	EFO	4	EFO	cancer	Endometrial Clear Cell Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	2029079	\N	\N	EFO	4	EFO	epithelial neoplasm	Endometrial Clear Cell Adenocarcinoma
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	2029080	\N	\N	EFO	4	EFO	uterine neoplasm	Endometrial Clear Cell Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	3180124	\N	\N	EFO	5	EFO	neoplasm	Endometrial Clear Cell Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	3180125	\N	\N	EFO	5	EFO	neoplasm	Endometrial Clear Cell Adenocarcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	3180126	\N	\N	EFO	5	EFO	reproductive system disease	Endometrial Clear Cell Adenocarcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	3180127	\N	\N	EFO	5	EFO	urogenital neoplasm	Endometrial Clear Cell Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	5409086	\N	\N	EFO	7	EFO	disease	Endometrial Clear Cell Adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	4389005	\N	\N	EFO	6	EFO	disease	Endometrial Clear Cell Adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	4389006	\N	\N	EFO	6	EFO	neoplasm	Endometrial Clear Cell Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	5996662	\N	\N	EFO	8	EFO	disposition	Endometrial Clear Cell Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	6550392	\N	\N	EFO	9	EFO	material property	Endometrial Clear Cell Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000231	"A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." []	6888978	\N	\N	EFO	10	EFO	experimental factor	Endometrial Clear Cell Adenocarcinoma
EFO:1000232	\N	\N	"It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." []	EFO:1000232	"It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." []	69833	\N	\N	EFO	0	EFO	Endometrial Cyst	Endometrial Cyst
EFO:0004230	EFO:1000232	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000232	"It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." []	212061	\N	\N	EFO	1	EFO	endometrial neoplasm	Endometrial Cyst
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000232	"It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." []	565482	\N	\N	EFO	2	EFO	uterine neoplasm	Endometrial Cyst
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000232	"It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." []	1146704	\N	\N	EFO	3	EFO	reproductive system disease	Endometrial Cyst
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000232	"It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." []	1146705	\N	\N	EFO	3	EFO	urogenital neoplasm	Endometrial Cyst
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000232	"It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." []	2029081	\N	\N	EFO	4	EFO	disease	Endometrial Cyst
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000232	"It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." []	2029082	\N	\N	EFO	4	EFO	neoplasm	Endometrial Cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000232	"It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." []	4389008	\N	\N	EFO	6	EFO	disposition	Endometrial Cyst
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000232	"It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." []	3180129	\N	\N	EFO	5	EFO	disease	Endometrial Cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000232	"It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." []	5181150	\N	\N	EFO	7	EFO	material property	Endometrial Cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000232	"It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between." []	5996663	\N	\N	EFO	8	EFO	experimental factor	Endometrial Cyst
EFO:1000233	\N	\N	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	69834	\N	\N	EFO	0	EFO	Endometrial Endometrioid Adenocarcinoma	Endometrial Endometrioid Adenocarcinoma
EFO:0000228	EFO:1000233	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	212062	\N	\N	EFO	1	EFO	adenocarcinoma	Endometrial Endometrioid Adenocarcinoma
EFO:0000512	EFO:1000233	\N	"any diease of the reproductive system" []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	212063	\N	\N	EFO	1	EFO	reproductive system disease	Endometrial Endometrioid Adenocarcinoma
EFO:0003863	EFO:1000233	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	212064	\N	\N	EFO	1	EFO	urogenital neoplasm	Endometrial Endometrioid Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	565483	\N	\N	EFO	2	EFO	carcinoma	Endometrial Endometrioid Adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	565484	\N	\N	EFO	2	EFO	disease	Endometrial Endometrioid Adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	565485	\N	\N	EFO	2	EFO	neoplasm	Endometrial Endometrioid Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	1146706	\N	\N	EFO	3	EFO	cancer	Endometrial Endometrioid Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	1146707	\N	\N	EFO	3	EFO	epithelial neoplasm	Endometrial Endometrioid Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	4066754	\N	\N	EFO	6	EFO	disposition	Endometrial Endometrioid Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	3180130	\N	\N	EFO	5	EFO	disease	Endometrial Endometrioid Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	2029083	\N	\N	EFO	4	EFO	neoplasm	Endometrial Endometrioid Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	2029084	\N	\N	EFO	4	EFO	neoplasm	Endometrial Endometrioid Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	5028348	\N	\N	EFO	7	EFO	material property	Endometrial Endometrioid Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000233	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	5817389	\N	\N	EFO	8	EFO	experimental factor	Endometrial Endometrioid Adenocarcinoma
EFO:1000234	\N	\N	"Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." []	EFO:1000234	"Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." []	69835	\N	\N	EFO	0	EFO	Endometrial Hyperplasia without Atypia	Endometrial Hyperplasia without Atypia
EFO:0000512	EFO:1000234	\N	"any diease of the reproductive system" []	EFO:1000234	"Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." []	212065	\N	\N	EFO	1	EFO	reproductive system disease	Endometrial Hyperplasia without Atypia
EFO:0000536	EFO:1000234	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1000234	"Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." []	212066	\N	\N	EFO	1	EFO	hyperplasia	Endometrial Hyperplasia without Atypia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000234	"Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." []	565486	\N	\N	EFO	2	EFO	disease	Endometrial Hyperplasia without Atypia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000234	"Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." []	565487	\N	\N	EFO	2	EFO	disease	Endometrial Hyperplasia without Atypia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000234	"Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." []	1146710	\N	\N	EFO	3	EFO	disposition	Endometrial Hyperplasia without Atypia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000234	"Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." []	2029087	\N	\N	EFO	4	EFO	material property	Endometrial Hyperplasia without Atypia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000234	"Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." []	3180132	\N	\N	EFO	5	EFO	experimental factor	Endometrial Hyperplasia without Atypia
EFO:1000235	\N	\N	"A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." []	EFO:1000235	"A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." []	69836	\N	\N	EFO	0	EFO	Endometrial Intraepithelial Neoplasia	Endometrial Intraepithelial Neoplasia
EFO:0004230	EFO:1000235	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000235	"A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." []	212067	\N	\N	EFO	1	EFO	endometrial neoplasm	Endometrial Intraepithelial Neoplasia
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000235	"A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." []	565488	\N	\N	EFO	2	EFO	uterine neoplasm	Endometrial Intraepithelial Neoplasia
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000235	"A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." []	1146711	\N	\N	EFO	3	EFO	reproductive system disease	Endometrial Intraepithelial Neoplasia
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000235	"A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." []	1146712	\N	\N	EFO	3	EFO	urogenital neoplasm	Endometrial Intraepithelial Neoplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000235	"A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." []	2029088	\N	\N	EFO	4	EFO	disease	Endometrial Intraepithelial Neoplasia
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000235	"A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." []	2029089	\N	\N	EFO	4	EFO	neoplasm	Endometrial Intraepithelial Neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000235	"A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." []	4389010	\N	\N	EFO	6	EFO	disposition	Endometrial Intraepithelial Neoplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000235	"A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." []	3180134	\N	\N	EFO	5	EFO	disease	Endometrial Intraepithelial Neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000235	"A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." []	5181151	\N	\N	EFO	7	EFO	material property	Endometrial Intraepithelial Neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000235	"A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension." []	5996664	\N	\N	EFO	8	EFO	experimental factor	Endometrial Intraepithelial Neoplasia
EFO:1000236	\N	\N	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	69837	\N	\N	EFO	0	EFO	Endometrial Mucinous Adenocarcinoma	Endometrial Mucinous Adenocarcinoma
EFO:0005232	EFO:1000236	\N	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	212068	\N	\N	EFO	1	EFO	endometrium adenocarcinoma	Endometrial Mucinous Adenocarcinoma
EFO:0000228	EFO:0005232	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	565489	\N	\N	EFO	2	EFO	adenocarcinoma	Endometrial Mucinous Adenocarcinoma
EFO:1001512	EFO:0005232	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	565490	\N	\N	EFO	2	EFO	endometrial carcinoma	Endometrial Mucinous Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	1146713	\N	\N	EFO	3	EFO	carcinoma	Endometrial Mucinous Adenocarcinoma
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	1146714	\N	\N	EFO	3	EFO	carcinoma	Endometrial Mucinous Adenocarcinoma
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	1146715	\N	\N	EFO	3	EFO	endometrial neoplasm	Endometrial Mucinous Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	2029090	\N	\N	EFO	4	EFO	cancer	Endometrial Mucinous Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	2029091	\N	\N	EFO	4	EFO	epithelial neoplasm	Endometrial Mucinous Adenocarcinoma
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	2029092	\N	\N	EFO	4	EFO	uterine neoplasm	Endometrial Mucinous Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	3180135	\N	\N	EFO	5	EFO	neoplasm	Endometrial Mucinous Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	3180136	\N	\N	EFO	5	EFO	neoplasm	Endometrial Mucinous Adenocarcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	3180137	\N	\N	EFO	5	EFO	reproductive system disease	Endometrial Mucinous Adenocarcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	3180138	\N	\N	EFO	5	EFO	urogenital neoplasm	Endometrial Mucinous Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	5409090	\N	\N	EFO	7	EFO	disease	Endometrial Mucinous Adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	4389012	\N	\N	EFO	6	EFO	disease	Endometrial Mucinous Adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	4389013	\N	\N	EFO	6	EFO	neoplasm	Endometrial Mucinous Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	5996665	\N	\N	EFO	8	EFO	disposition	Endometrial Mucinous Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	6550393	\N	\N	EFO	9	EFO	material property	Endometrial Mucinous Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000236	"A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." []	6888979	\N	\N	EFO	10	EFO	experimental factor	Endometrial Mucinous Adenocarcinoma
EFO:1000237	\N	\N	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	69838	\N	\N	EFO	0	EFO	Endometrial Polyp	Endometrial Polyp
EFO:0000662	EFO:1000237	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	212069	\N	\N	EFO	1	EFO	polyp	Endometrial Polyp
EFO:0004230	EFO:1000237	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	212070	\N	\N	EFO	1	EFO	endometrial neoplasm	Endometrial Polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	565491	\N	\N	EFO	2	EFO	neoplasm	Endometrial Polyp
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	565492	\N	\N	EFO	2	EFO	uterine neoplasm	Endometrial Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	3180141	\N	\N	EFO	5	EFO	disease	Endometrial Polyp
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	1146717	\N	\N	EFO	3	EFO	reproductive system disease	Endometrial Polyp
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	1146718	\N	\N	EFO	3	EFO	urogenital neoplasm	Endometrial Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	4066755	\N	\N	EFO	6	EFO	disposition	Endometrial Polyp
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	2029094	\N	\N	EFO	4	EFO	disease	Endometrial Polyp
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	2029095	\N	\N	EFO	4	EFO	neoplasm	Endometrial Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	5059423	\N	\N	EFO	7	EFO	material property	Endometrial Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000237	"A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." []	5876588	\N	\N	EFO	8	EFO	experimental factor	Endometrial Polyp
EFO:1000238	\N	\N	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	69839	\N	\N	EFO	0	EFO	Endometrial Serous Adenocarcinoma	Endometrial Serous Adenocarcinoma
EFO:0003825	EFO:1000238	\N	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	212071	\N	\N	EFO	1	EFO	serous adenocarcinoma	Endometrial Serous Adenocarcinoma
EFO:1001512	EFO:1000238	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	212072	\N	\N	EFO	1	EFO	endometrial carcinoma	Endometrial Serous Adenocarcinoma
EFO:0000228	EFO:0003825	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	565493	\N	\N	EFO	2	EFO	adenocarcinoma	Endometrial Serous Adenocarcinoma
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	565494	\N	\N	EFO	2	EFO	carcinoma	Endometrial Serous Adenocarcinoma
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	565495	\N	\N	EFO	2	EFO	endometrial neoplasm	Endometrial Serous Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	1146719	\N	\N	EFO	3	EFO	carcinoma	Endometrial Serous Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	2029096	\N	\N	EFO	4	EFO	cancer	Endometrial Serous Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	2029097	\N	\N	EFO	4	EFO	epithelial neoplasm	Endometrial Serous Adenocarcinoma
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	1146722	\N	\N	EFO	3	EFO	uterine neoplasm	Endometrial Serous Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	2999956	\N	\N	EFO	5	EFO	neoplasm	Endometrial Serous Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	2999957	\N	\N	EFO	5	EFO	neoplasm	Endometrial Serous Adenocarcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	2029100	\N	\N	EFO	4	EFO	reproductive system disease	Endometrial Serous Adenocarcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	2029101	\N	\N	EFO	4	EFO	urogenital neoplasm	Endometrial Serous Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	4132885	\N	\N	EFO	6	EFO	disease	Endometrial Serous Adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	3180143	\N	\N	EFO	5	EFO	disease	Endometrial Serous Adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	3180144	\N	\N	EFO	5	EFO	neoplasm	Endometrial Serous Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	5181153	\N	\N	EFO	7	EFO	disposition	Endometrial Serous Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	5996666	\N	\N	EFO	8	EFO	material property	Endometrial Serous Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000238	"A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." []	6550394	\N	\N	EFO	9	EFO	experimental factor	Endometrial Serous Adenocarcinoma
EFO:1000239	\N	\N	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	69840	\N	\N	EFO	0	EFO	Endometrial Small Cell Carcinoma	Endometrial Small Cell Carcinoma
EFO:1001512	EFO:1000239	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	212073	\N	\N	EFO	1	EFO	endometrial carcinoma	Endometrial Small Cell Carcinoma
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	565496	\N	\N	EFO	2	EFO	carcinoma	Endometrial Small Cell Carcinoma
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	565497	\N	\N	EFO	2	EFO	endometrial neoplasm	Endometrial Small Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	1146723	\N	\N	EFO	3	EFO	cancer	Endometrial Small Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	1146724	\N	\N	EFO	3	EFO	epithelial neoplasm	Endometrial Small Cell Carcinoma
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	1146725	\N	\N	EFO	3	EFO	uterine neoplasm	Endometrial Small Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	2029102	\N	\N	EFO	4	EFO	neoplasm	Endometrial Small Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	2029103	\N	\N	EFO	4	EFO	neoplasm	Endometrial Small Cell Carcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	2029104	\N	\N	EFO	4	EFO	reproductive system disease	Endometrial Small Cell Carcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	2029105	\N	\N	EFO	4	EFO	urogenital neoplasm	Endometrial Small Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	4389017	\N	\N	EFO	6	EFO	disease	Endometrial Small Cell Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	3180146	\N	\N	EFO	5	EFO	disease	Endometrial Small Cell Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	3180147	\N	\N	EFO	5	EFO	neoplasm	Endometrial Small Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	5181154	\N	\N	EFO	7	EFO	disposition	Endometrial Small Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	5996667	\N	\N	EFO	8	EFO	material property	Endometrial Small Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000239	"A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." []	6550395	\N	\N	EFO	9	EFO	experimental factor	Endometrial Small Cell Carcinoma
EFO:1000240	\N	\N	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	69841	\N	\N	EFO	0	EFO	Endometrial Squamous Cell Carcinoma	Endometrial Squamous Cell Carcinoma
EFO:0000707	EFO:1000240	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	212074	\N	\N	EFO	1	EFO	squamous cell carcinoma	Endometrial Squamous Cell Carcinoma
EFO:1001512	EFO:1000240	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	212075	\N	\N	EFO	1	EFO	endometrial carcinoma	Endometrial Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	565498	\N	\N	EFO	2	EFO	carcinoma	Endometrial Squamous Cell Carcinoma
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	565499	\N	\N	EFO	2	EFO	carcinoma	Endometrial Squamous Cell Carcinoma
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	565500	\N	\N	EFO	2	EFO	endometrial neoplasm	Endometrial Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	1146726	\N	\N	EFO	3	EFO	cancer	Endometrial Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	1146727	\N	\N	EFO	3	EFO	epithelial neoplasm	Endometrial Squamous Cell Carcinoma
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	1146728	\N	\N	EFO	3	EFO	uterine neoplasm	Endometrial Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	2029106	\N	\N	EFO	4	EFO	neoplasm	Endometrial Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	2029107	\N	\N	EFO	4	EFO	neoplasm	Endometrial Squamous Cell Carcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	2029108	\N	\N	EFO	4	EFO	reproductive system disease	Endometrial Squamous Cell Carcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	2029109	\N	\N	EFO	4	EFO	urogenital neoplasm	Endometrial Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	4389019	\N	\N	EFO	6	EFO	disease	Endometrial Squamous Cell Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	3180149	\N	\N	EFO	5	EFO	disease	Endometrial Squamous Cell Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	3180150	\N	\N	EFO	5	EFO	neoplasm	Endometrial Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	5181155	\N	\N	EFO	7	EFO	disposition	Endometrial Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	5996668	\N	\N	EFO	8	EFO	material property	Endometrial Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000240	"A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." []	6550396	\N	\N	EFO	9	EFO	experimental factor	Endometrial Squamous Cell Carcinoma
EFO:1000241	\N	\N	"A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." []	EFO:1000241	"A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." []	69842	\N	\N	EFO	0	EFO	Endometrial Stromal Nodule	Endometrial Stromal Nodule
EFO:0004230	EFO:1000241	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000241	"A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." []	212076	\N	\N	EFO	1	EFO	endometrial neoplasm	Endometrial Stromal Nodule
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000241	"A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." []	565501	\N	\N	EFO	2	EFO	uterine neoplasm	Endometrial Stromal Nodule
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000241	"A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." []	1146729	\N	\N	EFO	3	EFO	reproductive system disease	Endometrial Stromal Nodule
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000241	"A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." []	1146730	\N	\N	EFO	3	EFO	urogenital neoplasm	Endometrial Stromal Nodule
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000241	"A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." []	2029110	\N	\N	EFO	4	EFO	disease	Endometrial Stromal Nodule
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000241	"A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." []	2029111	\N	\N	EFO	4	EFO	neoplasm	Endometrial Stromal Nodule
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000241	"A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." []	4389021	\N	\N	EFO	6	EFO	disposition	Endometrial Stromal Nodule
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000241	"A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." []	3180152	\N	\N	EFO	5	EFO	disease	Endometrial Stromal Nodule
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000241	"A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." []	5181156	\N	\N	EFO	7	EFO	material property	Endometrial Stromal Nodule
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000241	"A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." []	5996669	\N	\N	EFO	8	EFO	experimental factor	Endometrial Stromal Nodule
EFO:1000242	\N	\N	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	69843	\N	\N	EFO	0	EFO	Endometrial Undifferentiated Carcinoma	Endometrial Undifferentiated Carcinoma
EFO:1001512	EFO:1000242	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	212077	\N	\N	EFO	1	EFO	endometrial carcinoma	Endometrial Undifferentiated Carcinoma
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	565502	\N	\N	EFO	2	EFO	carcinoma	Endometrial Undifferentiated Carcinoma
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	565503	\N	\N	EFO	2	EFO	endometrial neoplasm	Endometrial Undifferentiated Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	1146731	\N	\N	EFO	3	EFO	cancer	Endometrial Undifferentiated Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	1146732	\N	\N	EFO	3	EFO	epithelial neoplasm	Endometrial Undifferentiated Carcinoma
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	1146733	\N	\N	EFO	3	EFO	uterine neoplasm	Endometrial Undifferentiated Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	2029112	\N	\N	EFO	4	EFO	neoplasm	Endometrial Undifferentiated Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	2029113	\N	\N	EFO	4	EFO	neoplasm	Endometrial Undifferentiated Carcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	2029114	\N	\N	EFO	4	EFO	reproductive system disease	Endometrial Undifferentiated Carcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	2029115	\N	\N	EFO	4	EFO	urogenital neoplasm	Endometrial Undifferentiated Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	4389023	\N	\N	EFO	6	EFO	disease	Endometrial Undifferentiated Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	3180154	\N	\N	EFO	5	EFO	disease	Endometrial Undifferentiated Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	3180155	\N	\N	EFO	5	EFO	neoplasm	Endometrial Undifferentiated Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	5181157	\N	\N	EFO	7	EFO	disposition	Endometrial Undifferentiated Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	5996670	\N	\N	EFO	8	EFO	material property	Endometrial Undifferentiated Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000242	"A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." []	6550397	\N	\N	EFO	9	EFO	experimental factor	Endometrial Undifferentiated Carcinoma
EFO:1000243	\N	\N	"Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" []	EFO:1000243	"Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" []	69844	\N	\N	EFO	0	EFO	Epidermal Inclusion Cyst	Epidermal Inclusion Cyst
EFO:0004198	EFO:1000243	\N	"Tumors or cancer of the SKIN." []	EFO:1000243	"Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" []	212078	\N	\N	EFO	1	EFO	skin neoplasm	Epidermal Inclusion Cyst
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000243	"Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" []	565504	\N	\N	EFO	2	EFO	neoplasm	Epidermal Inclusion Cyst
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000243	"Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" []	565505	\N	\N	EFO	2	EFO	skin disease	Epidermal Inclusion Cyst
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000243	"Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" []	1146734	\N	\N	EFO	3	EFO	disease	Epidermal Inclusion Cyst
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000243	"Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" []	1146735	\N	\N	EFO	3	EFO	disease	Epidermal Inclusion Cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000243	"Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" []	2029116	\N	\N	EFO	4	EFO	disposition	Epidermal Inclusion Cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000243	"Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" []	3180156	\N	\N	EFO	5	EFO	material property	Epidermal Inclusion Cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000243	"Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" []	4389024	\N	\N	EFO	6	EFO	experimental factor	Epidermal Inclusion Cyst
EFO:1000244	\N	\N	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	69845	\N	\N	EFO	0	EFO	Epithelioid Cell Uveal Melanoma	Epithelioid Cell Uveal Melanoma
EFO:0000756	EFO:1000244	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	212079	\N	\N	EFO	1	EFO	melanoma	Epithelioid Cell Uveal Melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	565506	\N	\N	EFO	2	EFO	carcinoma	Epithelioid Cell Uveal Melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	565507	\N	\N	EFO	2	EFO	skin neoplasm	Epithelioid Cell Uveal Melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	1146736	\N	\N	EFO	3	EFO	cancer	Epithelioid Cell Uveal Melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	1146737	\N	\N	EFO	3	EFO	epithelial neoplasm	Epithelioid Cell Uveal Melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	1146738	\N	\N	EFO	3	EFO	neoplasm	Epithelioid Cell Uveal Melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	1146739	\N	\N	EFO	3	EFO	skin disease	Epithelioid Cell Uveal Melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	2029117	\N	\N	EFO	4	EFO	neoplasm	Epithelioid Cell Uveal Melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	2029118	\N	\N	EFO	4	EFO	neoplasm	Epithelioid Cell Uveal Melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	3180157	\N	\N	EFO	5	EFO	disease	Epithelioid Cell Uveal Melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	2029120	\N	\N	EFO	4	EFO	disease	Epithelioid Cell Uveal Melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	4132886	\N	\N	EFO	6	EFO	disposition	Epithelioid Cell Uveal Melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	5181158	\N	\N	EFO	7	EFO	material property	Epithelioid Cell Uveal Melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000244	"A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." []	5996671	\N	\N	EFO	8	EFO	experimental factor	Epithelioid Cell Uveal Melanoma
EFO:1000245	\N	\N	"A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." []	EFO:1000245	"A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." []	69846	\N	\N	EFO	0	EFO	Epithelioid Malignant Peripheral Nerve Sheath Tumor	Epithelioid Malignant Peripheral Nerve Sheath Tumor
EFO:0000760	EFO:1000245	\N	"Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." []	EFO:1000245	"A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." []	212080	\N	\N	EFO	1	EFO	malignant peripheral nerve sheath tumor	Epithelioid Malignant Peripheral Nerve Sheath Tumor
EFO:0002431	EFO:0000760	\N	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	EFO:1000245	"A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." []	565508	\N	\N	EFO	2	EFO	tumour of cranial and spinal nerves	Epithelioid Malignant Peripheral Nerve Sheath Tumor
EFO:0000311	EFO:0002431	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000245	"A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." []	1146740	\N	\N	EFO	3	EFO	cancer	Epithelioid Malignant Peripheral Nerve Sheath Tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000245	"A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." []	2029121	\N	\N	EFO	4	EFO	neoplasm	Epithelioid Malignant Peripheral Nerve Sheath Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000245	"A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." []	3180159	\N	\N	EFO	5	EFO	disease	Epithelioid Malignant Peripheral Nerve Sheath Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000245	"A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." []	4389026	\N	\N	EFO	6	EFO	disposition	Epithelioid Malignant Peripheral Nerve Sheath Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000245	"A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." []	5409097	\N	\N	EFO	7	EFO	material property	Epithelioid Malignant Peripheral Nerve Sheath Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000245	"A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." []	6147569	\N	\N	EFO	8	EFO	experimental factor	Epithelioid Malignant Peripheral Nerve Sheath Tumor
EFO:1000246	\N	\N	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	69847	\N	\N	EFO	0	EFO	Ethmoid Sinus Adenoid Cystic Carcinoma	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000231	EFO:1000246	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	212081	\N	\N	EFO	1	EFO	adenoid cystic carcinoma	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0003866	EFO:1000246	\N	"Tumors or cancer of the PARANASAL SINUSES." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	212082	\N	\N	EFO	1	EFO	paranasal sinus neoplasm	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	565509	\N	\N	EFO	2	EFO	carcinoma	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0003853	EFO:0003866	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	565510	\N	\N	EFO	2	EFO	respiratory system neoplasm	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0005950	EFO:0003866	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	565511	\N	\N	EFO	2	EFO	head and neck neoplasia	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	1146741	\N	\N	EFO	3	EFO	cancer	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	1146742	\N	\N	EFO	3	EFO	epithelial neoplasm	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	1146743	\N	\N	EFO	3	EFO	neoplasm	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	1146744	\N	\N	EFO	3	EFO	respiratory system disease	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	1146745	\N	\N	EFO	3	EFO	head disease	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	1146746	\N	\N	EFO	3	EFO	neoplasm	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	2029122	\N	\N	EFO	4	EFO	neoplasm	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	2029123	\N	\N	EFO	4	EFO	neoplasm	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	3180160	\N	\N	EFO	5	EFO	disease	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	2029125	\N	\N	EFO	4	EFO	disease	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	2029126	\N	\N	EFO	4	EFO	disease	Ethmoid Sinus Adenoid Cystic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	4132887	\N	\N	EFO	6	EFO	disposition	Ethmoid Sinus Adenoid Cystic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	5181159	\N	\N	EFO	7	EFO	material property	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000246	"An adenoid cystic carcinoma that affects the ethmoid sinus." []	5996672	\N	\N	EFO	8	EFO	experimental factor	Ethmoid Sinus Adenoid Cystic Carcinoma
EFO:1000247	\N	\N	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	69848	\N	\N	EFO	0	EFO	Extrahepatic Bile Duct Adenosquamous Carcinoma	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0005540	EFO:1000247	\N	"A carcinoma that starts in the bile duct." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	212083	\N	\N	EFO	1	EFO	bile duct carcinoma	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0000313	EFO:0005540	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	565512	\N	\N	EFO	2	EFO	carcinoma	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:1001513	EFO:0005540	\N	"Tumors or cancers of the LIVER." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	565513	\N	\N	EFO	2	EFO	liver neoplasm	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	1146747	\N	\N	EFO	3	EFO	cancer	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	1146748	\N	\N	EFO	3	EFO	epithelial neoplasm	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	1146749	\N	\N	EFO	3	EFO	liver disease	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	1146750	\N	\N	EFO	3	EFO	endocrine neoplasm	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	2029127	\N	\N	EFO	4	EFO	neoplasm	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	2029128	\N	\N	EFO	4	EFO	neoplasm	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	2029129	\N	\N	EFO	4	EFO	digestive system disease	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	2029130	\N	\N	EFO	4	EFO	endocrine system disease	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	2029131	\N	\N	EFO	4	EFO	neoplasm	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	2029132	\N	\N	EFO	4	EFO	endocrine system disease	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	3180162	\N	\N	EFO	5	EFO	disease	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	3180163	\N	\N	EFO	5	EFO	disease	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	3180164	\N	\N	EFO	5	EFO	disease	Extrahepatic Bile Duct Adenosquamous Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	4389028	\N	\N	EFO	6	EFO	disposition	Extrahepatic Bile Duct Adenosquamous Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	5409099	\N	\N	EFO	7	EFO	material property	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000247	"A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." []	6147570	\N	\N	EFO	8	EFO	experimental factor	Extrahepatic Bile Duct Adenosquamous Carcinoma
EFO:1000248	\N	\N	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	69849	\N	\N	EFO	0	EFO	Extrahepatic Bile Duct Squamous Cell Carcinoma	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0000707	EFO:1000248	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	212084	\N	\N	EFO	1	EFO	squamous cell carcinoma	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0005540	EFO:1000248	\N	"A carcinoma that starts in the bile duct." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	212085	\N	\N	EFO	1	EFO	bile duct carcinoma	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	565514	\N	\N	EFO	2	EFO	carcinoma	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0000313	EFO:0005540	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	565515	\N	\N	EFO	2	EFO	carcinoma	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:1001513	EFO:0005540	\N	"Tumors or cancers of the LIVER." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	565516	\N	\N	EFO	2	EFO	liver neoplasm	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	1146751	\N	\N	EFO	3	EFO	cancer	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	1146752	\N	\N	EFO	3	EFO	epithelial neoplasm	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	1146753	\N	\N	EFO	3	EFO	liver disease	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	1146754	\N	\N	EFO	3	EFO	endocrine neoplasm	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	2029133	\N	\N	EFO	4	EFO	neoplasm	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	2029134	\N	\N	EFO	4	EFO	neoplasm	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	2029135	\N	\N	EFO	4	EFO	digestive system disease	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	2029136	\N	\N	EFO	4	EFO	endocrine system disease	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	2029137	\N	\N	EFO	4	EFO	neoplasm	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	2029138	\N	\N	EFO	4	EFO	endocrine system disease	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	3180165	\N	\N	EFO	5	EFO	disease	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	3180166	\N	\N	EFO	5	EFO	disease	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	3180167	\N	\N	EFO	5	EFO	disease	Extrahepatic Bile Duct Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	4389029	\N	\N	EFO	6	EFO	disposition	Extrahepatic Bile Duct Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	5409100	\N	\N	EFO	7	EFO	material property	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000248	"A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." []	6147571	\N	\N	EFO	8	EFO	experimental factor	Extrahepatic Bile Duct Squamous Cell Carcinoma
EFO:1000249	\N	\N	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	69850	\N	\N	EFO	0	EFO	Extramammary Paget Disease	Extramammary Paget Disease
EFO:0000228	EFO:1000249	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	212086	\N	\N	EFO	1	EFO	adenocarcinoma	Extramammary Paget Disease
EFO:0004198	EFO:1000249	\N	"Tumors or cancer of the SKIN." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	212087	\N	\N	EFO	1	EFO	skin neoplasm	Extramammary Paget Disease
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	565517	\N	\N	EFO	2	EFO	carcinoma	Extramammary Paget Disease
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	565518	\N	\N	EFO	2	EFO	neoplasm	Extramammary Paget Disease
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	565519	\N	\N	EFO	2	EFO	skin disease	Extramammary Paget Disease
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	1146755	\N	\N	EFO	3	EFO	cancer	Extramammary Paget Disease
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	1146756	\N	\N	EFO	3	EFO	epithelial neoplasm	Extramammary Paget Disease
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	3180168	\N	\N	EFO	5	EFO	disease	Extramammary Paget Disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	1146758	\N	\N	EFO	3	EFO	disease	Extramammary Paget Disease
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	2029139	\N	\N	EFO	4	EFO	neoplasm	Extramammary Paget Disease
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	2029140	\N	\N	EFO	4	EFO	neoplasm	Extramammary Paget Disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	4066756	\N	\N	EFO	6	EFO	disposition	Extramammary Paget Disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	5059424	\N	\N	EFO	7	EFO	material property	Extramammary Paget Disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000249	"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." []	5876589	\N	\N	EFO	8	EFO	experimental factor	Extramammary Paget Disease
EFO:1000250	\N	\N	"A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." []	EFO:1000250	"A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." []	69851	\N	\N	EFO	0	EFO	Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor	Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
EFO:0005784	EFO:1000250	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000250	"A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." []	212088	\N	\N	EFO	1	EFO	embryonal neoplasm	Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000250	"A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." []	565520	\N	\N	EFO	2	EFO	neoplasm	Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000250	"A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." []	1146759	\N	\N	EFO	3	EFO	disease	Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000250	"A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." []	2029142	\N	\N	EFO	4	EFO	disposition	Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000250	"A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." []	3180170	\N	\N	EFO	5	EFO	material property	Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000250	"A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." []	4389031	\N	\N	EFO	6	EFO	experimental factor	Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
EFO:1000251	\N	\N	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	69852	\N	\N	EFO	0	EFO	Fallopian Tube Carcinoma	Fallopian Tube Carcinoma
EFO:0000313	EFO:1000251	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	212089	\N	\N	EFO	1	EFO	carcinoma	Fallopian Tube Carcinoma
EFO:0000512	EFO:1000251	\N	"any diease of the reproductive system" []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	212090	\N	\N	EFO	1	EFO	reproductive system disease	Fallopian Tube Carcinoma
EFO:0003863	EFO:1000251	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	212091	\N	\N	EFO	1	EFO	urogenital neoplasm	Fallopian Tube Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	565521	\N	\N	EFO	2	EFO	cancer	Fallopian Tube Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	565522	\N	\N	EFO	2	EFO	epithelial neoplasm	Fallopian Tube Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	565523	\N	\N	EFO	2	EFO	disease	Fallopian Tube Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	565524	\N	\N	EFO	2	EFO	neoplasm	Fallopian Tube Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	1146760	\N	\N	EFO	3	EFO	neoplasm	Fallopian Tube Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	1146761	\N	\N	EFO	3	EFO	neoplasm	Fallopian Tube Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	2999959	\N	\N	EFO	5	EFO	disposition	Fallopian Tube Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	2029143	\N	\N	EFO	4	EFO	disease	Fallopian Tube Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	4066757	\N	\N	EFO	6	EFO	material property	Fallopian Tube Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000251	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	5059425	\N	\N	EFO	7	EFO	experimental factor	Fallopian Tube Carcinoma
EFO:1000252	\N	\N	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	69853	\N	\N	EFO	0	EFO	Fallopian Tube Carcinosarcoma	Fallopian Tube Carcinosarcoma
EFO:1000251	EFO:1000252	\N	"A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body). Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	212092	\N	\N	EFO	1	EFO	Fallopian Tube Carcinoma	Fallopian Tube Carcinosarcoma
EFO:0000313	EFO:1000251	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	565525	\N	\N	EFO	2	EFO	carcinoma	Fallopian Tube Carcinosarcoma
EFO:0000512	EFO:1000251	\N	"any diease of the reproductive system" []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	565526	\N	\N	EFO	2	EFO	reproductive system disease	Fallopian Tube Carcinosarcoma
EFO:0003863	EFO:1000251	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	565527	\N	\N	EFO	2	EFO	urogenital neoplasm	Fallopian Tube Carcinosarcoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	1146764	\N	\N	EFO	3	EFO	cancer	Fallopian Tube Carcinosarcoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	1146765	\N	\N	EFO	3	EFO	epithelial neoplasm	Fallopian Tube Carcinosarcoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	1146766	\N	\N	EFO	3	EFO	disease	Fallopian Tube Carcinosarcoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	1146767	\N	\N	EFO	3	EFO	neoplasm	Fallopian Tube Carcinosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	2029146	\N	\N	EFO	4	EFO	neoplasm	Fallopian Tube Carcinosarcoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	2029147	\N	\N	EFO	4	EFO	neoplasm	Fallopian Tube Carcinosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	4132890	\N	\N	EFO	6	EFO	disposition	Fallopian Tube Carcinosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	3180172	\N	\N	EFO	5	EFO	disease	Fallopian Tube Carcinosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	5059426	\N	\N	EFO	7	EFO	material property	Fallopian Tube Carcinosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000252	"A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." []	5876590	\N	\N	EFO	8	EFO	experimental factor	Fallopian Tube Carcinosarcoma
EFO:1000253	\N	\N	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	69854	\N	\N	EFO	0	EFO	Fallopian Tube Serous Adenocarcinoma	Fallopian Tube Serous Adenocarcinoma
EFO:0000512	EFO:1000253	\N	"any diease of the reproductive system" []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	212093	\N	\N	EFO	1	EFO	reproductive system disease	Fallopian Tube Serous Adenocarcinoma
EFO:0003825	EFO:1000253	\N	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	212094	\N	\N	EFO	1	EFO	serous adenocarcinoma	Fallopian Tube Serous Adenocarcinoma
EFO:0003863	EFO:1000253	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	212095	\N	\N	EFO	1	EFO	urogenital neoplasm	Fallopian Tube Serous Adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	565528	\N	\N	EFO	2	EFO	disease	Fallopian Tube Serous Adenocarcinoma
EFO:0000228	EFO:0003825	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	565529	\N	\N	EFO	2	EFO	adenocarcinoma	Fallopian Tube Serous Adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	565530	\N	\N	EFO	2	EFO	neoplasm	Fallopian Tube Serous Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	5028349	\N	\N	EFO	7	EFO	disposition	Fallopian Tube Serous Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	1146769	\N	\N	EFO	3	EFO	carcinoma	Fallopian Tube Serous Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	4389033	\N	\N	EFO	6	EFO	disease	Fallopian Tube Serous Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	5801812	\N	\N	EFO	8	EFO	material property	Fallopian Tube Serous Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	2029151	\N	\N	EFO	4	EFO	cancer	Fallopian Tube Serous Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	2029152	\N	\N	EFO	4	EFO	epithelial neoplasm	Fallopian Tube Serous Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	6378774	\N	\N	EFO	9	EFO	experimental factor	Fallopian Tube Serous Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	3180176	\N	\N	EFO	5	EFO	neoplasm	Fallopian Tube Serous Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000253	"A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." []	3180177	\N	\N	EFO	5	EFO	neoplasm	Fallopian Tube Serous Adenocarcinoma
EFO:1000254	\N	\N	"A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." []	EFO:1000254	"A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." []	69855	\N	\N	EFO	0	EFO	Fibroadenoma	Fibroadenoma
EFO:0003869	EFO:1000254	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:1000254	"A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." []	212096	\N	\N	EFO	1	EFO	breast neoplasm	Fibroadenoma
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000254	"A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." []	565531	\N	\N	EFO	2	EFO	neoplasm	Fibroadenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000254	"A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." []	1146771	\N	\N	EFO	3	EFO	disease	Fibroadenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000254	"A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." []	2029154	\N	\N	EFO	4	EFO	disposition	Fibroadenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000254	"A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." []	3180178	\N	\N	EFO	5	EFO	material property	Fibroadenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000254	"A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." []	4389034	\N	\N	EFO	6	EFO	experimental factor	Fibroadenoma
EFO:1000255	\N	\N	"A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." []	EFO:1000255	"A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." []	69856	\N	\N	EFO	0	EFO	Fibroblastic Neoplasm	Fibroblastic Neoplasm
EFO:0000616	EFO:1000255	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000255	"A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." []	212097	\N	\N	EFO	1	EFO	neoplasm	Fibroblastic Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000255	"A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." []	565532	\N	\N	EFO	2	EFO	disease	Fibroblastic Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000255	"A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." []	1146772	\N	\N	EFO	3	EFO	disposition	Fibroblastic Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000255	"A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." []	2029155	\N	\N	EFO	4	EFO	material property	Fibroblastic Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000255	"A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." []	3180179	\N	\N	EFO	5	EFO	experimental factor	Fibroblastic Neoplasm
EFO:1000256	\N	\N	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	69857	\N	\N	EFO	0	EFO	Fibrolamellar Carcinoma	Fibrolamellar Carcinoma
EFO:0000182	EFO:1000256	\N	"Tumors or cancer of the LIVER." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	212098	\N	\N	EFO	1	EFO	hepatocellular carcinoma	Fibrolamellar Carcinoma
EFO:0000313	EFO:0000182	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	565533	\N	\N	EFO	2	EFO	carcinoma	Fibrolamellar Carcinoma
EFO:1001513	EFO:0000182	\N	"Tumors or cancers of the LIVER." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	565534	\N	\N	EFO	2	EFO	liver neoplasm	Fibrolamellar Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	1146773	\N	\N	EFO	3	EFO	cancer	Fibrolamellar Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	1146774	\N	\N	EFO	3	EFO	epithelial neoplasm	Fibrolamellar Carcinoma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	1146775	\N	\N	EFO	3	EFO	liver disease	Fibrolamellar Carcinoma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	1146776	\N	\N	EFO	3	EFO	endocrine neoplasm	Fibrolamellar Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	2029156	\N	\N	EFO	4	EFO	neoplasm	Fibrolamellar Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	2029157	\N	\N	EFO	4	EFO	neoplasm	Fibrolamellar Carcinoma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	2029158	\N	\N	EFO	4	EFO	digestive system disease	Fibrolamellar Carcinoma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	2029159	\N	\N	EFO	4	EFO	endocrine system disease	Fibrolamellar Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	2029160	\N	\N	EFO	4	EFO	neoplasm	Fibrolamellar Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	2029161	\N	\N	EFO	4	EFO	endocrine system disease	Fibrolamellar Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	3180180	\N	\N	EFO	5	EFO	disease	Fibrolamellar Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	3180181	\N	\N	EFO	5	EFO	disease	Fibrolamellar Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	3180182	\N	\N	EFO	5	EFO	disease	Fibrolamellar Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	4389035	\N	\N	EFO	6	EFO	disposition	Fibrolamellar Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	5409101	\N	\N	EFO	7	EFO	material property	Fibrolamellar Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000256	"A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." []	6147572	\N	\N	EFO	8	EFO	experimental factor	Fibrolamellar Carcinoma
EFO:1000257	\N	\N	"A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." []	EFO:1000257	"A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." []	69858	\N	\N	EFO	0	EFO	Fibrous Hamartoma of Infancy	Fibrous Hamartoma of Infancy
EFO:0000616	EFO:1000257	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000257	"A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." []	212099	\N	\N	EFO	1	EFO	neoplasm	Fibrous Hamartoma of Infancy
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000257	"A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." []	565535	\N	\N	EFO	2	EFO	disease	Fibrous Hamartoma of Infancy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000257	"A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." []	1146777	\N	\N	EFO	3	EFO	disposition	Fibrous Hamartoma of Infancy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000257	"A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." []	2029162	\N	\N	EFO	4	EFO	material property	Fibrous Hamartoma of Infancy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000257	"A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." []	3180183	\N	\N	EFO	5	EFO	experimental factor	Fibrous Hamartoma of Infancy
EFO:1000258	\N	\N	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	69859	\N	\N	EFO	0	EFO	Fibrous Meningioma	Fibrous Meningioma
Orphanet:2495	EFO:1000258	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	212100	\N	\N	EFO	1	EFO	Meningioma	Fibrous Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	565536	\N	\N	EFO	2	EFO	endocrine neoplasm	Fibrous Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	565537	\N	\N	EFO	2	EFO	meningeal neoplasm	Fibrous Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	1146778	\N	\N	EFO	3	EFO	neoplasm	Fibrous Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	1146779	\N	\N	EFO	3	EFO	endocrine system disease	Fibrous Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	1146780	\N	\N	EFO	3	EFO	brain neoplasm	Fibrous Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	3180185	\N	\N	EFO	5	EFO	disease	Fibrous Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	2029164	\N	\N	EFO	4	EFO	disease	Fibrous Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	2029165	\N	\N	EFO	4	EFO	neoplasm	Fibrous Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	2029166	\N	\N	EFO	4	EFO	brain disease	Fibrous Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	5409103	\N	\N	EFO	7	EFO	disposition	Fibrous Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	3180186	\N	\N	EFO	5	EFO	nervous system disease	Fibrous Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	5876591	\N	\N	EFO	8	EFO	material property	Fibrous Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	4389037	\N	\N	EFO	6	EFO	disease	Fibrous Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000258	"A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." []	6469844	\N	\N	EFO	9	EFO	experimental factor	Fibrous Meningioma
EFO:1000259	\N	\N	"A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" []	EFO:1000259	"A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" []	69860	\N	\N	EFO	0	EFO	Flat Urothelial Hyperplasia	Flat Urothelial Hyperplasia
EFO:0000536	EFO:1000259	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1000259	"A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" []	212101	\N	\N	EFO	1	EFO	hyperplasia	Flat Urothelial Hyperplasia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000259	"A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" []	565538	\N	\N	EFO	2	EFO	disease	Flat Urothelial Hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000259	"A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" []	1146781	\N	\N	EFO	3	EFO	disposition	Flat Urothelial Hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000259	"A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" []	2029167	\N	\N	EFO	4	EFO	material property	Flat Urothelial Hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000259	"A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" []	3180187	\N	\N	EFO	5	EFO	experimental factor	Flat Urothelial Hyperplasia
EFO:1000260	\N	\N	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	EFO:1000260	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	69861	\N	\N	EFO	0	EFO	Floor of Mouth Mucoepidermoid Carcinoma	Floor of Mouth Mucoepidermoid Carcinoma
EFO:0005570	EFO:1000260	\N	"A gastrointestinal system cancer that is located_in the oral cavity." []	EFO:1000260	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	212102	\N	\N	EFO	1	EFO	oral cavity cancer	Floor of Mouth Mucoepidermoid Carcinoma
EFO:0000311	EFO:0005570	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000260	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	565539	\N	\N	EFO	2	EFO	cancer	Floor of Mouth Mucoepidermoid Carcinoma
EFO:0005950	EFO:0005570	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000260	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	565540	\N	\N	EFO	2	EFO	head and neck neoplasia	Floor of Mouth Mucoepidermoid Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000260	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	1146782	\N	\N	EFO	3	EFO	neoplasm	Floor of Mouth Mucoepidermoid Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000260	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	1146783	\N	\N	EFO	3	EFO	head disease	Floor of Mouth Mucoepidermoid Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000260	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	1146784	\N	\N	EFO	3	EFO	neoplasm	Floor of Mouth Mucoepidermoid Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000260	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	2029168	\N	\N	EFO	4	EFO	disease	Floor of Mouth Mucoepidermoid Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000260	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	2029169	\N	\N	EFO	4	EFO	disease	Floor of Mouth Mucoepidermoid Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000260	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	3180188	\N	\N	EFO	5	EFO	disposition	Floor of Mouth Mucoepidermoid Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000260	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	4389038	\N	\N	EFO	6	EFO	material property	Floor of Mouth Mucoepidermoid Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000260	"A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." []	5409104	\N	\N	EFO	7	EFO	experimental factor	Floor of Mouth Mucoepidermoid Carcinoma
EFO:1000261	\N	\N	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	69862	\N	\N	EFO	0	EFO	Follicular Variant Thyroid Gland Papillary Carcinoma	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0000228	EFO:1000261	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	212103	\N	\N	EFO	1	EFO	adenocarcinoma	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0002892	EFO:1000261	\N	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	212104	\N	\N	EFO	1	EFO	thyroid carcinoma	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	565541	\N	\N	EFO	2	EFO	carcinoma	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0000313	EFO:0002892	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	565542	\N	\N	EFO	2	EFO	carcinoma	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0003841	EFO:0002892	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	565543	\N	\N	EFO	2	EFO	thyroid neoplasm	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	1146785	\N	\N	EFO	3	EFO	cancer	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	1146786	\N	\N	EFO	3	EFO	epithelial neoplasm	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	1146787	\N	\N	EFO	3	EFO	endocrine neoplasm	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	1146788	\N	\N	EFO	3	EFO	thyroid disease	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	2029170	\N	\N	EFO	4	EFO	neoplasm	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	2029171	\N	\N	EFO	4	EFO	neoplasm	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	2029172	\N	\N	EFO	4	EFO	neoplasm	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	2029173	\N	\N	EFO	4	EFO	endocrine system disease	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	2029174	\N	\N	EFO	4	EFO	endocrine system disease	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	3180189	\N	\N	EFO	5	EFO	disease	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	3180190	\N	\N	EFO	5	EFO	disease	Follicular Variant Thyroid Gland Papillary Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	4389039	\N	\N	EFO	6	EFO	disposition	Follicular Variant Thyroid Gland Papillary Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	5409105	\N	\N	EFO	7	EFO	material property	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000261	"A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland." []	6147573	\N	\N	EFO	8	EFO	experimental factor	Follicular Variant Thyroid Gland Papillary Carcinoma
EFO:1000262	\N	\N	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	69863	\N	\N	EFO	0	EFO	Gallbladder Adenocarcinoma	Gallbladder Adenocarcinoma
EFO:0000228	EFO:1000262	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	212105	\N	\N	EFO	1	EFO	adenocarcinoma	Gallbladder Adenocarcinoma
EFO:0003832	EFO:1000262	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	212106	\N	\N	EFO	1	EFO	gallbladder disease	Gallbladder Adenocarcinoma
EFO:0004606	EFO:1000262	\N	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	212107	\N	\N	EFO	1	EFO	gallbladder neoplasm	Gallbladder Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	565544	\N	\N	EFO	2	EFO	carcinoma	Gallbladder Adenocarcinoma
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	565545	\N	\N	EFO	2	EFO	digestive system disease	Gallbladder Adenocarcinoma
EFO:0000616	EFO:0004606	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	565546	\N	\N	EFO	2	EFO	neoplasm	Gallbladder Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	1146789	\N	\N	EFO	3	EFO	cancer	Gallbladder Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	1146790	\N	\N	EFO	3	EFO	epithelial neoplasm	Gallbladder Adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	1146791	\N	\N	EFO	3	EFO	disease	Gallbladder Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	3180191	\N	\N	EFO	5	EFO	disease	Gallbladder Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	2029175	\N	\N	EFO	4	EFO	neoplasm	Gallbladder Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	2029176	\N	\N	EFO	4	EFO	neoplasm	Gallbladder Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	4066758	\N	\N	EFO	6	EFO	disposition	Gallbladder Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	5059427	\N	\N	EFO	7	EFO	material property	Gallbladder Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000262	"An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." []	5876592	\N	\N	EFO	8	EFO	experimental factor	Gallbladder Adenocarcinoma
EFO:1000263	\N	\N	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	69864	\N	\N	EFO	0	EFO	Gallbladder Adenoma	Gallbladder Adenoma
EFO:0000232	EFO:1000263	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	212108	\N	\N	EFO	1	EFO	adenoma	Gallbladder Adenoma
EFO:0000662	EFO:1000263	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	212109	\N	\N	EFO	1	EFO	polyp	Gallbladder Adenoma
EFO:0003832	EFO:1000263	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	212110	\N	\N	EFO	1	EFO	gallbladder disease	Gallbladder Adenoma
EFO:0004606	EFO:1000263	\N	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	212111	\N	\N	EFO	1	EFO	gallbladder neoplasm	Gallbladder Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	565547	\N	\N	EFO	2	EFO	benign neoplasm	Gallbladder Adenoma
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	565548	\N	\N	EFO	2	EFO	neoplasm	Gallbladder Adenoma
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	565549	\N	\N	EFO	2	EFO	digestive system disease	Gallbladder Adenoma
EFO:0000616	EFO:0004606	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	565550	\N	\N	EFO	2	EFO	neoplasm	Gallbladder Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	1146793	\N	\N	EFO	3	EFO	neoplasm	Gallbladder Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	2029178	\N	\N	EFO	4	EFO	disease	Gallbladder Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	1146795	\N	\N	EFO	3	EFO	disease	Gallbladder Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	2999961	\N	\N	EFO	5	EFO	disposition	Gallbladder Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	4132893	\N	\N	EFO	6	EFO	material property	Gallbladder Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000263	"A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." []	5181162	\N	\N	EFO	7	EFO	experimental factor	Gallbladder Adenoma
EFO:1000264	\N	\N	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	69865	\N	\N	EFO	0	EFO	Gallbladder Adenosquamous Carcinoma	Gallbladder Adenosquamous Carcinoma
EFO:0000313	EFO:1000264	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	212112	\N	\N	EFO	1	EFO	carcinoma	Gallbladder Adenosquamous Carcinoma
EFO:0003832	EFO:1000264	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	212113	\N	\N	EFO	1	EFO	gallbladder disease	Gallbladder Adenosquamous Carcinoma
EFO:0004606	EFO:1000264	\N	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	212114	\N	\N	EFO	1	EFO	gallbladder neoplasm	Gallbladder Adenosquamous Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	565551	\N	\N	EFO	2	EFO	cancer	Gallbladder Adenosquamous Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	565552	\N	\N	EFO	2	EFO	epithelial neoplasm	Gallbladder Adenosquamous Carcinoma
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	565553	\N	\N	EFO	2	EFO	digestive system disease	Gallbladder Adenosquamous Carcinoma
EFO:0000616	EFO:0004606	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	565554	\N	\N	EFO	2	EFO	neoplasm	Gallbladder Adenosquamous Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	1146796	\N	\N	EFO	3	EFO	neoplasm	Gallbladder Adenosquamous Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	1146797	\N	\N	EFO	3	EFO	neoplasm	Gallbladder Adenosquamous Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	1146798	\N	\N	EFO	3	EFO	disease	Gallbladder Adenosquamous Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	2029180	\N	\N	EFO	4	EFO	disease	Gallbladder Adenosquamous Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	2999962	\N	\N	EFO	5	EFO	disposition	Gallbladder Adenosquamous Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	4132894	\N	\N	EFO	6	EFO	material property	Gallbladder Adenosquamous Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000264	"A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." []	5181163	\N	\N	EFO	7	EFO	experimental factor	Gallbladder Adenosquamous Carcinoma
EFO:1000265	\N	\N	"A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." []	EFO:1000265	"A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." []	69866	\N	\N	EFO	0	EFO	Gallbladder Biliary Intraepithelial Neoplasia	Gallbladder Biliary Intraepithelial Neoplasia
EFO:0003832	EFO:1000265	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:1000265	"A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." []	212115	\N	\N	EFO	1	EFO	gallbladder disease	Gallbladder Biliary Intraepithelial Neoplasia
EFO:0004606	EFO:1000265	\N	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	EFO:1000265	"A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." []	212116	\N	\N	EFO	1	EFO	gallbladder neoplasm	Gallbladder Biliary Intraepithelial Neoplasia
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000265	"A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." []	565555	\N	\N	EFO	2	EFO	digestive system disease	Gallbladder Biliary Intraepithelial Neoplasia
EFO:0000616	EFO:0004606	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000265	"A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." []	565556	\N	\N	EFO	2	EFO	neoplasm	Gallbladder Biliary Intraepithelial Neoplasia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000265	"A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." []	1146800	\N	\N	EFO	3	EFO	disease	Gallbladder Biliary Intraepithelial Neoplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000265	"A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." []	1146801	\N	\N	EFO	3	EFO	disease	Gallbladder Biliary Intraepithelial Neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000265	"A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." []	2029182	\N	\N	EFO	4	EFO	disposition	Gallbladder Biliary Intraepithelial Neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000265	"A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." []	3180195	\N	\N	EFO	5	EFO	material property	Gallbladder Biliary Intraepithelial Neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000265	"A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." []	4389043	\N	\N	EFO	6	EFO	experimental factor	Gallbladder Biliary Intraepithelial Neoplasia
EFO:1000266	\N	\N	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	69867	\N	\N	EFO	0	EFO	Gallbladder Small Cell Neuroendocrine Carcinoma	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:0000313	EFO:1000266	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	212117	\N	\N	EFO	1	EFO	carcinoma	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:0003832	EFO:1000266	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	212118	\N	\N	EFO	1	EFO	gallbladder disease	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:0004606	EFO:1000266	\N	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	212119	\N	\N	EFO	1	EFO	gallbladder neoplasm	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	565557	\N	\N	EFO	2	EFO	cancer	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	565558	\N	\N	EFO	2	EFO	epithelial neoplasm	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	565559	\N	\N	EFO	2	EFO	digestive system disease	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0004606	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	565560	\N	\N	EFO	2	EFO	neoplasm	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	1146802	\N	\N	EFO	3	EFO	neoplasm	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	1146803	\N	\N	EFO	3	EFO	neoplasm	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	1146804	\N	\N	EFO	3	EFO	disease	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	2029183	\N	\N	EFO	4	EFO	disease	Gallbladder Small Cell Neuroendocrine Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	2999963	\N	\N	EFO	5	EFO	disposition	Gallbladder Small Cell Neuroendocrine Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	4132895	\N	\N	EFO	6	EFO	material property	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000266	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." []	5181164	\N	\N	EFO	7	EFO	experimental factor	Gallbladder Small Cell Neuroendocrine Carcinoma
EFO:1000267	\N	\N	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	69868	\N	\N	EFO	0	EFO	Gallbladder Squamous Cell Carcinoma	Gallbladder Squamous Cell Carcinoma
EFO:0000707	EFO:1000267	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	212120	\N	\N	EFO	1	EFO	squamous cell carcinoma	Gallbladder Squamous Cell Carcinoma
EFO:0003832	EFO:1000267	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	212121	\N	\N	EFO	1	EFO	gallbladder disease	Gallbladder Squamous Cell Carcinoma
EFO:0004606	EFO:1000267	\N	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	212122	\N	\N	EFO	1	EFO	gallbladder neoplasm	Gallbladder Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	565561	\N	\N	EFO	2	EFO	carcinoma	Gallbladder Squamous Cell Carcinoma
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	565562	\N	\N	EFO	2	EFO	digestive system disease	Gallbladder Squamous Cell Carcinoma
EFO:0000616	EFO:0004606	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	565563	\N	\N	EFO	2	EFO	neoplasm	Gallbladder Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	1146806	\N	\N	EFO	3	EFO	cancer	Gallbladder Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	1146807	\N	\N	EFO	3	EFO	epithelial neoplasm	Gallbladder Squamous Cell Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	1146808	\N	\N	EFO	3	EFO	disease	Gallbladder Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	3180197	\N	\N	EFO	5	EFO	disease	Gallbladder Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	2029185	\N	\N	EFO	4	EFO	neoplasm	Gallbladder Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	2029186	\N	\N	EFO	4	EFO	neoplasm	Gallbladder Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	4066759	\N	\N	EFO	6	EFO	disposition	Gallbladder Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	5059428	\N	\N	EFO	7	EFO	material property	Gallbladder Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000267	"A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." []	5876593	\N	\N	EFO	8	EFO	experimental factor	Gallbladder Squamous Cell Carcinoma
EFO:1000268	\N	\N	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	69869	\N	\N	EFO	0	EFO	Gastric Adenoma	Gastric Adenoma
EFO:0000232	EFO:1000268	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	212123	\N	\N	EFO	1	EFO	adenoma	Gastric Adenoma
EFO:0000662	EFO:1000268	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	212124	\N	\N	EFO	1	EFO	polyp	Gastric Adenoma
EFO:0003897	EFO:1000268	\N	"Tumors or cancer of the STOMACH." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	212125	\N	\N	EFO	1	EFO	stomach neoplasm	Gastric Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	565564	\N	\N	EFO	2	EFO	benign neoplasm	Gastric Adenoma
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	565565	\N	\N	EFO	2	EFO	neoplasm	Gastric Adenoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	565566	\N	\N	EFO	2	EFO	digestive system disease	Gastric Adenoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	565567	\N	\N	EFO	2	EFO	neoplasm	Gastric Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	1146810	\N	\N	EFO	3	EFO	neoplasm	Gastric Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	2029188	\N	\N	EFO	4	EFO	disease	Gastric Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	1146812	\N	\N	EFO	3	EFO	disease	Gastric Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	2999964	\N	\N	EFO	5	EFO	disposition	Gastric Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	4132896	\N	\N	EFO	6	EFO	material property	Gastric Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000268	"A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." []	5181165	\N	\N	EFO	7	EFO	experimental factor	Gastric Adenoma
EFO:1000269	\N	\N	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	69870	\N	\N	EFO	0	EFO	Gastric Choriocarcinoma	Gastric Choriocarcinoma
EFO:0002893	EFO:1000269	\N	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	212126	\N	\N	EFO	1	EFO	choriocarcinoma	Gastric Choriocarcinoma
EFO:0003897	EFO:1000269	\N	"Tumors or cancer of the STOMACH." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	212127	\N	\N	EFO	1	EFO	stomach neoplasm	Gastric Choriocarcinoma
EFO:0000514	EFO:0002893	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	565568	\N	\N	EFO	2	EFO	germ cell tumor	Gastric Choriocarcinoma
EFO:0003859	EFO:0002893	\N	"Tumors or cancer of the UTERUS." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	565569	\N	\N	EFO	2	EFO	uterine neoplasm	Gastric Choriocarcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	565570	\N	\N	EFO	2	EFO	digestive system disease	Gastric Choriocarcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	565571	\N	\N	EFO	2	EFO	neoplasm	Gastric Choriocarcinoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	1146813	\N	\N	EFO	3	EFO	neoplasm	Gastric Choriocarcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	1146814	\N	\N	EFO	3	EFO	reproductive system disease	Gastric Choriocarcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	1146815	\N	\N	EFO	3	EFO	urogenital neoplasm	Gastric Choriocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	1146816	\N	\N	EFO	3	EFO	disease	Gastric Choriocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	3180200	\N	\N	EFO	5	EFO	disease	Gastric Choriocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	2029191	\N	\N	EFO	4	EFO	disease	Gastric Choriocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	2029192	\N	\N	EFO	4	EFO	neoplasm	Gastric Choriocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	4066760	\N	\N	EFO	6	EFO	disposition	Gastric Choriocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	5059429	\N	\N	EFO	7	EFO	material property	Gastric Choriocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000269	"A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." []	5876594	\N	\N	EFO	8	EFO	experimental factor	Gastric Choriocarcinoma
EFO:1000270	\N	\N	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	69871	\N	\N	EFO	0	EFO	Gastric Diffuse Large B-Cell Lymphoma	Gastric Diffuse Large B-Cell Lymphoma
EFO:0000403	EFO:1000270	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	212128	\N	\N	EFO	1	EFO	diffuse large B-cell lymphoma	Gastric Diffuse Large B-Cell Lymphoma
EFO:0003897	EFO:1000270	\N	"Tumors or cancer of the STOMACH." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	212129	\N	\N	EFO	1	EFO	stomach neoplasm	Gastric Diffuse Large B-Cell Lymphoma
EFO:0000096	EFO:0000403	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	565572	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	Gastric Diffuse Large B-Cell Lymphoma
EFO:0000574	EFO:0000403	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	565573	\N	\N	EFO	2	EFO	lymphoma	Gastric Diffuse Large B-Cell Lymphoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	565574	\N	\N	EFO	2	EFO	digestive system disease	Gastric Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	565575	\N	\N	EFO	2	EFO	neoplasm	Gastric Diffuse Large B-Cell Lymphoma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	1146818	\N	\N	EFO	3	EFO	lymphoid neoplasm	Gastric Diffuse Large B-Cell Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	1146819	\N	\N	EFO	3	EFO	lymphoid neoplasm	Gastric Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	1146820	\N	\N	EFO	3	EFO	disease	Gastric Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	4389048	\N	\N	EFO	6	EFO	disease	Gastric Diffuse Large B-Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	2029194	\N	\N	EFO	4	EFO	cancer	Gastric Diffuse Large B-Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	2029195	\N	\N	EFO	4	EFO	hematological system disease	Gastric Diffuse Large B-Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	5028350	\N	\N	EFO	7	EFO	disposition	Gastric Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	3180202	\N	\N	EFO	5	EFO	neoplasm	Gastric Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	3180203	\N	\N	EFO	5	EFO	disease	Gastric Diffuse Large B-Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	5817390	\N	\N	EFO	8	EFO	material property	Gastric Diffuse Large B-Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000270	"An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." []	6409764	\N	\N	EFO	9	EFO	experimental factor	Gastric Diffuse Large B-Cell Lymphoma
EFO:1000271	\N	\N	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." []	EFO:1000271	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." []	69872	\N	\N	EFO	0	EFO	Gastric Hamartomatous Polyp	Gastric Hamartomatous Polyp
EFO:0000662	EFO:1000271	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000271	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." []	212130	\N	\N	EFO	1	EFO	polyp	Gastric Hamartomatous Polyp
EFO:0003897	EFO:1000271	\N	"Tumors or cancer of the STOMACH." []	EFO:1000271	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." []	212131	\N	\N	EFO	1	EFO	stomach neoplasm	Gastric Hamartomatous Polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000271	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." []	565576	\N	\N	EFO	2	EFO	neoplasm	Gastric Hamartomatous Polyp
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000271	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." []	565577	\N	\N	EFO	2	EFO	digestive system disease	Gastric Hamartomatous Polyp
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000271	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." []	565578	\N	\N	EFO	2	EFO	neoplasm	Gastric Hamartomatous Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000271	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." []	1146822	\N	\N	EFO	3	EFO	disease	Gastric Hamartomatous Polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000271	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." []	1146823	\N	\N	EFO	3	EFO	disease	Gastric Hamartomatous Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000271	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." []	2029197	\N	\N	EFO	4	EFO	disposition	Gastric Hamartomatous Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000271	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." []	3180205	\N	\N	EFO	5	EFO	material property	Gastric Hamartomatous Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000271	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." []	4389051	\N	\N	EFO	6	EFO	experimental factor	Gastric Hamartomatous Polyp
EFO:1000272	\N	\N	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	69873	\N	\N	EFO	0	EFO	Gastric Mantle Cell Lymphoma	Gastric Mantle Cell Lymphoma
EFO:0000178	EFO:1000272	\N	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	212132	\N	\N	EFO	1	EFO	gastric carcinoma	Gastric Mantle Cell Lymphoma
EFO:1001469	EFO:1000272	\N	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	212133	\N	\N	EFO	1	EFO	Mantle cell lymphoma	Gastric Mantle Cell Lymphoma
EFO:0000313	EFO:0000178	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	565579	\N	\N	EFO	2	EFO	carcinoma	Gastric Mantle Cell Lymphoma
EFO:0003897	EFO:0000178	\N	"Tumors or cancer of the STOMACH." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	565580	\N	\N	EFO	2	EFO	stomach neoplasm	Gastric Mantle Cell Lymphoma
EFO:0005952	EFO:1001469	\N	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	565581	\N	\N	EFO	2	EFO	non-Hodgkins lymphoma	Gastric Mantle Cell Lymphoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	1146824	\N	\N	EFO	3	EFO	cancer	Gastric Mantle Cell Lymphoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	1146825	\N	\N	EFO	3	EFO	epithelial neoplasm	Gastric Mantle Cell Lymphoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	1146826	\N	\N	EFO	3	EFO	digestive system disease	Gastric Mantle Cell Lymphoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	1146827	\N	\N	EFO	3	EFO	neoplasm	Gastric Mantle Cell Lymphoma
EFO:0000574	EFO:0005952	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	1146828	\N	\N	EFO	3	EFO	lymphoma	Gastric Mantle Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	4389053	\N	\N	EFO	6	EFO	neoplasm	Gastric Mantle Cell Lymphoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	2029199	\N	\N	EFO	4	EFO	neoplasm	Gastric Mantle Cell Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	2029200	\N	\N	EFO	4	EFO	disease	Gastric Mantle Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	5059431	\N	\N	EFO	7	EFO	disease	Gastric Mantle Cell Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	2029202	\N	\N	EFO	4	EFO	lymphoid neoplasm	Gastric Mantle Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	5817391	\N	\N	EFO	8	EFO	disposition	Gastric Mantle Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	3180208	\N	\N	EFO	5	EFO	cancer	Gastric Mantle Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	3180209	\N	\N	EFO	5	EFO	hematological system disease	Gastric Mantle Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	6409765	\N	\N	EFO	9	EFO	material property	Gastric Mantle Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	4389054	\N	\N	EFO	6	EFO	disease	Gastric Mantle Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000272	"A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." []	6807631	\N	\N	EFO	10	EFO	experimental factor	Gastric Mantle Cell Lymphoma
EFO:1000273	\N	\N	"Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)" []	EFO:1000273	"Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)" []	69874	\N	\N	EFO	0	EFO	Gastric Metaplasia	Gastric Metaplasia
EFO:0003897	EFO:1000273	\N	"Tumors or cancer of the STOMACH." []	EFO:1000273	"Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)" []	212134	\N	\N	EFO	1	EFO	stomach neoplasm	Gastric Metaplasia
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000273	"Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)" []	565582	\N	\N	EFO	2	EFO	digestive system disease	Gastric Metaplasia
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000273	"Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)" []	565583	\N	\N	EFO	2	EFO	neoplasm	Gastric Metaplasia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000273	"Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)" []	1146829	\N	\N	EFO	3	EFO	disease	Gastric Metaplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000273	"Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)" []	1146830	\N	\N	EFO	3	EFO	disease	Gastric Metaplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000273	"Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)" []	2029203	\N	\N	EFO	4	EFO	disposition	Gastric Metaplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000273	"Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)" []	3180210	\N	\N	EFO	5	EFO	material property	Gastric Metaplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000273	"Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)" []	4389055	\N	\N	EFO	6	EFO	experimental factor	Gastric Metaplasia
EFO:1000274	\N	\N	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	69875	\N	\N	EFO	0	EFO	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000574	EFO:1000274	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	212135	\N	\N	EFO	1	EFO	lymphoma	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0003897	EFO:1000274	\N	"Tumors or cancer of the STOMACH." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	212136	\N	\N	EFO	1	EFO	stomach neoplasm	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	565584	\N	\N	EFO	2	EFO	lymphoid neoplasm	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	565585	\N	\N	EFO	2	EFO	digestive system disease	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	565586	\N	\N	EFO	2	EFO	neoplasm	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	1146831	\N	\N	EFO	3	EFO	cancer	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	1146832	\N	\N	EFO	3	EFO	hematological system disease	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	1146833	\N	\N	EFO	3	EFO	disease	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	3180211	\N	\N	EFO	5	EFO	disease	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	2029204	\N	\N	EFO	4	EFO	neoplasm	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	2029205	\N	\N	EFO	4	EFO	disease	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	4066761	\N	\N	EFO	6	EFO	disposition	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	5059432	\N	\N	EFO	7	EFO	material property	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000274	"A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." []	5876597	\N	\N	EFO	8	EFO	experimental factor	Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:1000275	\N	\N	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." []	EFO:1000275	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." []	69876	\N	\N	EFO	0	EFO	Gastric Neuroendocrine Tumor G1	Gastric Neuroendocrine Tumor G1
EFO:0003897	EFO:1000275	\N	"Tumors or cancer of the STOMACH." []	EFO:1000275	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." []	212137	\N	\N	EFO	1	EFO	stomach neoplasm	Gastric Neuroendocrine Tumor G1
EFO:0004243	EFO:1000275	\N	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	EFO:1000275	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." []	212138	\N	\N	EFO	1	EFO	carcinoid tumor	Gastric Neuroendocrine Tumor G1
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000275	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." []	565587	\N	\N	EFO	2	EFO	digestive system disease	Gastric Neuroendocrine Tumor G1
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000275	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." []	565588	\N	\N	EFO	2	EFO	neoplasm	Gastric Neuroendocrine Tumor G1
EFO:0000616	EFO:0004243	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000275	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." []	565589	\N	\N	EFO	2	EFO	neoplasm	Gastric Neuroendocrine Tumor G1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000275	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." []	1146835	\N	\N	EFO	3	EFO	disease	Gastric Neuroendocrine Tumor G1
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000275	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." []	1146836	\N	\N	EFO	3	EFO	disease	Gastric Neuroendocrine Tumor G1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000275	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." []	2029207	\N	\N	EFO	4	EFO	disposition	Gastric Neuroendocrine Tumor G1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000275	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." []	3180214	\N	\N	EFO	5	EFO	material property	Gastric Neuroendocrine Tumor G1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000275	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." []	4389057	\N	\N	EFO	6	EFO	experimental factor	Gastric Neuroendocrine Tumor G1
EFO:1000276	\N	\N	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	69877	\N	\N	EFO	0	EFO	Gastric Papillary Adenocarcinoma	Gastric Papillary Adenocarcinoma
EFO:0000503	EFO:1000276	\N	"curative" []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	212139	\N	\N	EFO	1	EFO	gastric adenocarcinoma	Gastric Papillary Adenocarcinoma
EFO:0000228	EFO:0000503	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	565590	\N	\N	EFO	2	EFO	adenocarcinoma	Gastric Papillary Adenocarcinoma
EFO:0003897	EFO:0000503	\N	"Tumors or cancer of the STOMACH." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	565591	\N	\N	EFO	2	EFO	stomach neoplasm	Gastric Papillary Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	1146837	\N	\N	EFO	3	EFO	carcinoma	Gastric Papillary Adenocarcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	1146838	\N	\N	EFO	3	EFO	digestive system disease	Gastric Papillary Adenocarcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	1146839	\N	\N	EFO	3	EFO	neoplasm	Gastric Papillary Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	2029208	\N	\N	EFO	4	EFO	cancer	Gastric Papillary Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	2029209	\N	\N	EFO	4	EFO	epithelial neoplasm	Gastric Papillary Adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	2029210	\N	\N	EFO	4	EFO	disease	Gastric Papillary Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	4389058	\N	\N	EFO	6	EFO	disease	Gastric Papillary Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	3180215	\N	\N	EFO	5	EFO	neoplasm	Gastric Papillary Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	3180216	\N	\N	EFO	5	EFO	neoplasm	Gastric Papillary Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	5059433	\N	\N	EFO	7	EFO	disposition	Gastric Papillary Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	5876598	\N	\N	EFO	8	EFO	material property	Gastric Papillary Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000276	"A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." []	6469846	\N	\N	EFO	9	EFO	experimental factor	Gastric Papillary Adenocarcinoma
EFO:1000277	\N	\N	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	69878	\N	\N	EFO	0	EFO	Gastric Small Cell Neuroendocrine Carcinoma	Gastric Small Cell Neuroendocrine Carcinoma
EFO:0000178	EFO:1000277	\N	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	212140	\N	\N	EFO	1	EFO	gastric carcinoma	Gastric Small Cell Neuroendocrine Carcinoma
EFO:0000313	EFO:0000178	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	565592	\N	\N	EFO	2	EFO	carcinoma	Gastric Small Cell Neuroendocrine Carcinoma
EFO:0003897	EFO:0000178	\N	"Tumors or cancer of the STOMACH." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	565593	\N	\N	EFO	2	EFO	stomach neoplasm	Gastric Small Cell Neuroendocrine Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	1146840	\N	\N	EFO	3	EFO	cancer	Gastric Small Cell Neuroendocrine Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	1146841	\N	\N	EFO	3	EFO	epithelial neoplasm	Gastric Small Cell Neuroendocrine Carcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	1146842	\N	\N	EFO	3	EFO	digestive system disease	Gastric Small Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	1146843	\N	\N	EFO	3	EFO	neoplasm	Gastric Small Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	2029212	\N	\N	EFO	4	EFO	neoplasm	Gastric Small Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	2029213	\N	\N	EFO	4	EFO	neoplasm	Gastric Small Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	2029214	\N	\N	EFO	4	EFO	disease	Gastric Small Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	3180218	\N	\N	EFO	5	EFO	disease	Gastric Small Cell Neuroendocrine Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	4132900	\N	\N	EFO	6	EFO	disposition	Gastric Small Cell Neuroendocrine Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	5181169	\N	\N	EFO	7	EFO	material property	Gastric Small Cell Neuroendocrine Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000277	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." []	5996675	\N	\N	EFO	8	EFO	experimental factor	Gastric Small Cell Neuroendocrine Carcinoma
EFO:1000278	\N	\N	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	69879	\N	\N	EFO	0	EFO	Gastric Squamous Cell Carcinoma	Gastric Squamous Cell Carcinoma
EFO:0000178	EFO:1000278	\N	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	212141	\N	\N	EFO	1	EFO	gastric carcinoma	Gastric Squamous Cell Carcinoma
EFO:0000707	EFO:1000278	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	212142	\N	\N	EFO	1	EFO	squamous cell carcinoma	Gastric Squamous Cell Carcinoma
EFO:0000313	EFO:0000178	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	565594	\N	\N	EFO	2	EFO	carcinoma	Gastric Squamous Cell Carcinoma
EFO:0003897	EFO:0000178	\N	"Tumors or cancer of the STOMACH." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	565595	\N	\N	EFO	2	EFO	stomach neoplasm	Gastric Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	565596	\N	\N	EFO	2	EFO	carcinoma	Gastric Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	1146844	\N	\N	EFO	3	EFO	cancer	Gastric Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	1146845	\N	\N	EFO	3	EFO	epithelial neoplasm	Gastric Squamous Cell Carcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	1146846	\N	\N	EFO	3	EFO	digestive system disease	Gastric Squamous Cell Carcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	1146847	\N	\N	EFO	3	EFO	neoplasm	Gastric Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	2029216	\N	\N	EFO	4	EFO	neoplasm	Gastric Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	2029217	\N	\N	EFO	4	EFO	neoplasm	Gastric Squamous Cell Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	2029218	\N	\N	EFO	4	EFO	disease	Gastric Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	3180220	\N	\N	EFO	5	EFO	disease	Gastric Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	4132901	\N	\N	EFO	6	EFO	disposition	Gastric Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	5181170	\N	\N	EFO	7	EFO	material property	Gastric Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000278	"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." []	5996676	\N	\N	EFO	8	EFO	experimental factor	Gastric Squamous Cell Carcinoma
EFO:1000280	\N	\N	"A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." []	EFO:1000280	"A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." []	69880	\N	\N	EFO	0	EFO	Gastrointestinal Hamartoma	Gastrointestinal Hamartoma
EFO:0000405	EFO:1000280	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000280	"A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." []	212143	\N	\N	EFO	1	EFO	digestive system disease	Gastrointestinal Hamartoma
EFO:0000662	EFO:1000280	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000280	"A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." []	212144	\N	\N	EFO	1	EFO	polyp	Gastrointestinal Hamartoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000280	"A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." []	565597	\N	\N	EFO	2	EFO	disease	Gastrointestinal Hamartoma
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000280	"A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." []	565598	\N	\N	EFO	2	EFO	neoplasm	Gastrointestinal Hamartoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000280	"A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." []	2029221	\N	\N	EFO	4	EFO	disposition	Gastrointestinal Hamartoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000280	"A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." []	1146849	\N	\N	EFO	3	EFO	disease	Gastrointestinal Hamartoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000280	"A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." []	2999966	\N	\N	EFO	5	EFO	material property	Gastrointestinal Hamartoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000280	"A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." []	4132902	\N	\N	EFO	6	EFO	experimental factor	Gastrointestinal Hamartoma
EFO:1000281	\N	\N	"A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." []	EFO:1000281	"A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." []	69881	\N	\N	EFO	0	EFO	Giant Cell Tumor of Soft Tissue	Giant Cell Tumor of Soft Tissue
EFO:0000691	EFO:1000281	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000281	"A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." []	212145	\N	\N	EFO	1	EFO	sarcoma	Giant Cell Tumor of Soft Tissue
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000281	"A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." []	565599	\N	\N	EFO	2	EFO	cancer	Giant Cell Tumor of Soft Tissue
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000281	"A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." []	1146850	\N	\N	EFO	3	EFO	neoplasm	Giant Cell Tumor of Soft Tissue
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000281	"A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." []	2029222	\N	\N	EFO	4	EFO	disease	Giant Cell Tumor of Soft Tissue
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000281	"A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." []	3180223	\N	\N	EFO	5	EFO	disposition	Giant Cell Tumor of Soft Tissue
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000281	"A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." []	4389062	\N	\N	EFO	6	EFO	material property	Giant Cell Tumor of Soft Tissue
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000281	"A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." []	5409111	\N	\N	EFO	7	EFO	experimental factor	Giant Cell Tumor of Soft Tissue
EFO:1000282	\N	\N	"A teratoma that arises from the testis or ovary." []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	69882	\N	\N	EFO	0	EFO	Gonadal Teratoma	Gonadal Teratoma
EFO:0000514	EFO:1000282	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	212146	\N	\N	EFO	1	EFO	germ cell tumor	Gonadal Teratoma
EFO:0003893	EFO:1000282	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	212147	\N	\N	EFO	1	EFO	ovarian neoplasm	Gonadal Teratoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	565600	\N	\N	EFO	2	EFO	neoplasm	Gonadal Teratoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	565601	\N	\N	EFO	2	EFO	urogenital neoplasm	Gonadal Teratoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	565602	\N	\N	EFO	2	EFO	ovarian disease	Gonadal Teratoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	2029224	\N	\N	EFO	4	EFO	disease	Gonadal Teratoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	1146852	\N	\N	EFO	3	EFO	neoplasm	Gonadal Teratoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	1146853	\N	\N	EFO	3	EFO	reproductive system disease	Gonadal Teratoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	2999967	\N	\N	EFO	5	EFO	disposition	Gonadal Teratoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	2029225	\N	\N	EFO	4	EFO	disease	Gonadal Teratoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	4132903	\N	\N	EFO	6	EFO	material property	Gonadal Teratoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000282	"A teratoma that arises from the testis or ovary." []	5181171	\N	\N	EFO	7	EFO	experimental factor	Gonadal Teratoma
EFO:1000283	\N	\N	"High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." []	EFO:1000283	"High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." []	69883	\N	\N	EFO	0	EFO	Grade III Prostatic Intraepithelial Neoplasia	Grade III Prostatic Intraepithelial Neoplasia
EFO:0000512	EFO:1000283	\N	"any diease of the reproductive system" []	EFO:1000283	"High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." []	212148	\N	\N	EFO	1	EFO	reproductive system disease	Grade III Prostatic Intraepithelial Neoplasia
EFO:0002621	EFO:1000283	\N	"noninvasive prostate duct lesions that affect smaller caliber ducts" []	EFO:1000283	"High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." []	212149	\N	\N	EFO	1	EFO	prostate intraepithelial neoplasia	Grade III Prostatic Intraepithelial Neoplasia
EFO:0003863	EFO:1000283	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000283	"High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." []	212150	\N	\N	EFO	1	EFO	urogenital neoplasm	Grade III Prostatic Intraepithelial Neoplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000283	"High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." []	565603	\N	\N	EFO	2	EFO	disease	Grade III Prostatic Intraepithelial Neoplasia
EFO:0000616	EFO:0002621	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000283	"High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." []	565604	\N	\N	EFO	2	EFO	neoplasm	Grade III Prostatic Intraepithelial Neoplasia
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000283	"High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." []	565605	\N	\N	EFO	2	EFO	neoplasm	Grade III Prostatic Intraepithelial Neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000283	"High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." []	2029227	\N	\N	EFO	4	EFO	disposition	Grade III Prostatic Intraepithelial Neoplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000283	"High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." []	1146855	\N	\N	EFO	3	EFO	disease	Grade III Prostatic Intraepithelial Neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000283	"High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." []	2999968	\N	\N	EFO	5	EFO	material property	Grade III Prostatic Intraepithelial Neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000283	"High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." []	4132904	\N	\N	EFO	6	EFO	experimental factor	Grade III Prostatic Intraepithelial Neoplasia
EFO:1000284	\N	\N	"An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." []	EFO:1000284	"An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." []	69884	\N	\N	EFO	0	EFO	Granular Cell Tumor	Granular Cell Tumor
EFO:0000228	EFO:1000284	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000284	"An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." []	212151	\N	\N	EFO	1	EFO	adenocarcinoma	Granular Cell Tumor
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000284	"An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." []	565606	\N	\N	EFO	2	EFO	carcinoma	Granular Cell Tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000284	"An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." []	1146856	\N	\N	EFO	3	EFO	cancer	Granular Cell Tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000284	"An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." []	1146857	\N	\N	EFO	3	EFO	epithelial neoplasm	Granular Cell Tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000284	"An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." []	2029228	\N	\N	EFO	4	EFO	neoplasm	Granular Cell Tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000284	"An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." []	2029229	\N	\N	EFO	4	EFO	neoplasm	Granular Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000284	"An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." []	3180226	\N	\N	EFO	5	EFO	disease	Granular Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000284	"An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." []	4389064	\N	\N	EFO	6	EFO	disposition	Granular Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000284	"An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." []	5409112	\N	\N	EFO	7	EFO	material property	Granular Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000284	"An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." []	6147574	\N	\N	EFO	8	EFO	experimental factor	Granular Cell Tumor
EFO:1000285	\N	\N	"A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" []	EFO:1000285	"A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" []	69885	\N	\N	EFO	0	EFO	Granular Cell Tumor of the Neurohypophysis	Granular Cell Tumor of the Neurohypophysis
EFO:0000228	EFO:1000285	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000285	"A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" []	212152	\N	\N	EFO	1	EFO	adenocarcinoma	Granular Cell Tumor of the Neurohypophysis
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000285	"A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" []	565607	\N	\N	EFO	2	EFO	carcinoma	Granular Cell Tumor of the Neurohypophysis
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000285	"A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" []	1146858	\N	\N	EFO	3	EFO	cancer	Granular Cell Tumor of the Neurohypophysis
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000285	"A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" []	1146859	\N	\N	EFO	3	EFO	epithelial neoplasm	Granular Cell Tumor of the Neurohypophysis
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000285	"A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" []	2029230	\N	\N	EFO	4	EFO	neoplasm	Granular Cell Tumor of the Neurohypophysis
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000285	"A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" []	2029231	\N	\N	EFO	4	EFO	neoplasm	Granular Cell Tumor of the Neurohypophysis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000285	"A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" []	3180227	\N	\N	EFO	5	EFO	disease	Granular Cell Tumor of the Neurohypophysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000285	"A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" []	4389065	\N	\N	EFO	6	EFO	disposition	Granular Cell Tumor of the Neurohypophysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000285	"A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" []	5409113	\N	\N	EFO	7	EFO	material property	Granular Cell Tumor of the Neurohypophysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000285	"A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" []	6147575	\N	\N	EFO	8	EFO	experimental factor	Granular Cell Tumor of the Neurohypophysis
EFO:1000286	\N	\N	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	69886	\N	\N	EFO	0	EFO	Granulocytic Sarcoma	Granulocytic Sarcoma
EFO:0000691	EFO:1000286	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	212153	\N	\N	EFO	1	EFO	sarcoma	Granulocytic Sarcoma
EFO:0002427	EFO:1000286	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	212154	\N	\N	EFO	1	EFO	myeloid neoplasm	Granulocytic Sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	565608	\N	\N	EFO	2	EFO	cancer	Granulocytic Sarcoma
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	565609	\N	\N	EFO	2	EFO	lymphoid neoplasm	Granulocytic Sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	2029233	\N	\N	EFO	4	EFO	neoplasm	Granulocytic Sarcoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	1146861	\N	\N	EFO	3	EFO	cancer	Granulocytic Sarcoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	1146862	\N	\N	EFO	3	EFO	hematological system disease	Granulocytic Sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	2999969	\N	\N	EFO	5	EFO	disease	Granulocytic Sarcoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	2029234	\N	\N	EFO	4	EFO	disease	Granulocytic Sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	4132905	\N	\N	EFO	6	EFO	disposition	Granulocytic Sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	5181172	\N	\N	EFO	7	EFO	material property	Granulocytic Sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000286	"A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" []	5996677	\N	\N	EFO	8	EFO	experimental factor	Granulocytic Sarcoma
EFO:1000287	\N	\N	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	69887	\N	\N	EFO	0	EFO	Growth Hormone-Producing Pituitary Gland Adenoma	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0000232	EFO:1000287	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	212155	\N	\N	EFO	1	EFO	adenoma	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0003769	EFO:1000287	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	212156	\N	\N	EFO	1	EFO	endocrine neoplasm	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0003833	EFO:1000287	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	212157	\N	\N	EFO	1	EFO	brain neoplasm	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	565610	\N	\N	EFO	2	EFO	benign neoplasm	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	565611	\N	\N	EFO	2	EFO	neoplasm	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	565612	\N	\N	EFO	2	EFO	endocrine system disease	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	565613	\N	\N	EFO	2	EFO	neoplasm	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	565614	\N	\N	EFO	2	EFO	brain disease	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	1146863	\N	\N	EFO	3	EFO	neoplasm	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	2029235	\N	\N	EFO	4	EFO	disease	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	1146865	\N	\N	EFO	3	EFO	disease	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	1146866	\N	\N	EFO	3	EFO	nervous system disease	Growth Hormone-Producing Pituitary Gland Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	2999970	\N	\N	EFO	5	EFO	disposition	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	2029237	\N	\N	EFO	4	EFO	disease	Growth Hormone-Producing Pituitary Gland Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	4132906	\N	\N	EFO	6	EFO	material property	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000287	"An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." []	5181173	\N	\N	EFO	7	EFO	experimental factor	Growth Hormone-Producing Pituitary Gland Adenoma
EFO:1000288	\N	\N	"A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." []	EFO:1000288	"A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." []	69888	\N	\N	EFO	0	EFO	Head and Neck Paraganglioma	Head and Neck Paraganglioma
EFO:0005950	EFO:1000288	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000288	"A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." []	212158	\N	\N	EFO	1	EFO	head and neck neoplasia	Head and Neck Paraganglioma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000288	"A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." []	565615	\N	\N	EFO	2	EFO	head disease	Head and Neck Paraganglioma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000288	"A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." []	565616	\N	\N	EFO	2	EFO	neoplasm	Head and Neck Paraganglioma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000288	"A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." []	1146867	\N	\N	EFO	3	EFO	disease	Head and Neck Paraganglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000288	"A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." []	1146868	\N	\N	EFO	3	EFO	disease	Head and Neck Paraganglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000288	"A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." []	2029238	\N	\N	EFO	4	EFO	disposition	Head and Neck Paraganglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000288	"A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." []	3180230	\N	\N	EFO	5	EFO	material property	Head and Neck Paraganglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000288	"A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." []	4389068	\N	\N	EFO	6	EFO	experimental factor	Head and Neck Paraganglioma
EFO:1000289	\N	\N	"A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." []	EFO:1000289	"A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." []	69889	\N	\N	EFO	0	EFO	Hemangiopericytic Neoplasm	Hemangiopericytic Neoplasm
EFO:0000319	EFO:1000289	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000289	"A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." []	212159	\N	\N	EFO	1	EFO	cardiovascular disease	Hemangiopericytic Neoplasm
EFO:0000616	EFO:1000289	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000289	"A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." []	212160	\N	\N	EFO	1	EFO	neoplasm	Hemangiopericytic Neoplasm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000289	"A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." []	565617	\N	\N	EFO	2	EFO	disease	Hemangiopericytic Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000289	"A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." []	565618	\N	\N	EFO	2	EFO	disease	Hemangiopericytic Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000289	"A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." []	1146869	\N	\N	EFO	3	EFO	disposition	Hemangiopericytic Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000289	"A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." []	2029239	\N	\N	EFO	4	EFO	material property	Hemangiopericytic Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000289	"A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." []	3180231	\N	\N	EFO	5	EFO	experimental factor	Hemangiopericytic Neoplasm
EFO:1000291	\N	\N	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	69890	\N	\N	EFO	0	EFO	Hepatic Granuloma	Hepatic Granuloma
EFO:1001513	EFO:1000291	\N	"Tumors or cancers of the LIVER." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	212161	\N	\N	EFO	1	EFO	liver neoplasm	Hepatic Granuloma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	565619	\N	\N	EFO	2	EFO	liver disease	Hepatic Granuloma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	565620	\N	\N	EFO	2	EFO	endocrine neoplasm	Hepatic Granuloma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	1146870	\N	\N	EFO	3	EFO	digestive system disease	Hepatic Granuloma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	1146871	\N	\N	EFO	3	EFO	endocrine system disease	Hepatic Granuloma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	1146872	\N	\N	EFO	3	EFO	neoplasm	Hepatic Granuloma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	1146873	\N	\N	EFO	3	EFO	endocrine system disease	Hepatic Granuloma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	2029240	\N	\N	EFO	4	EFO	disease	Hepatic Granuloma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	2029241	\N	\N	EFO	4	EFO	disease	Hepatic Granuloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	2029242	\N	\N	EFO	4	EFO	disease	Hepatic Granuloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	3180232	\N	\N	EFO	5	EFO	disposition	Hepatic Granuloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	4389069	\N	\N	EFO	6	EFO	material property	Hepatic Granuloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000291	"Hepatic granulomas develop through the interactions of T lymphocytes and macrophages, with the integral involvement of T-helper (T(H)) 1 or T(H)2 pathways or both, depending on the specific granulomatous disease." []	5409115	\N	\N	EFO	7	EFO	experimental factor	Hepatic Granuloma
EFO:1000292	\N	\N	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	69891	\N	\N	EFO	0	EFO	Hepatoblastoma	Hepatoblastoma
EFO:0005784	EFO:1000292	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	212162	\N	\N	EFO	1	EFO	embryonal neoplasm	Hepatoblastoma
EFO:1001513	EFO:1000292	\N	"Tumors or cancers of the LIVER." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	212163	\N	\N	EFO	1	EFO	liver neoplasm	Hepatoblastoma
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	565621	\N	\N	EFO	2	EFO	neoplasm	Hepatoblastoma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	565622	\N	\N	EFO	2	EFO	liver disease	Hepatoblastoma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	565623	\N	\N	EFO	2	EFO	endocrine neoplasm	Hepatoblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	2029246	\N	\N	EFO	4	EFO	disease	Hepatoblastoma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	1146875	\N	\N	EFO	3	EFO	digestive system disease	Hepatoblastoma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	1146876	\N	\N	EFO	3	EFO	endocrine system disease	Hepatoblastoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	1146877	\N	\N	EFO	3	EFO	neoplasm	Hepatoblastoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	1146878	\N	\N	EFO	3	EFO	endocrine system disease	Hepatoblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	2999971	\N	\N	EFO	5	EFO	disposition	Hepatoblastoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	2029244	\N	\N	EFO	4	EFO	disease	Hepatoblastoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	2029245	\N	\N	EFO	4	EFO	disease	Hepatoblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	4132907	\N	\N	EFO	6	EFO	material property	Hepatoblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000292	"A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well." []	5181174	\N	\N	EFO	7	EFO	experimental factor	Hepatoblastoma
EFO:1000293	\N	\N	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	69892	\N	\N	EFO	0	EFO	Hepatoid Adenocarcinoma	Hepatoid Adenocarcinoma
EFO:0000228	EFO:1000293	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	212164	\N	\N	EFO	1	EFO	adenocarcinoma	Hepatoid Adenocarcinoma
EFO:1001513	EFO:1000293	\N	"Tumors or cancers of the LIVER." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	212165	\N	\N	EFO	1	EFO	liver neoplasm	Hepatoid Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	565624	\N	\N	EFO	2	EFO	carcinoma	Hepatoid Adenocarcinoma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	565625	\N	\N	EFO	2	EFO	liver disease	Hepatoid Adenocarcinoma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	565626	\N	\N	EFO	2	EFO	endocrine neoplasm	Hepatoid Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	1146879	\N	\N	EFO	3	EFO	cancer	Hepatoid Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	1146880	\N	\N	EFO	3	EFO	epithelial neoplasm	Hepatoid Adenocarcinoma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	1146881	\N	\N	EFO	3	EFO	digestive system disease	Hepatoid Adenocarcinoma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	1146882	\N	\N	EFO	3	EFO	endocrine system disease	Hepatoid Adenocarcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	1146883	\N	\N	EFO	3	EFO	neoplasm	Hepatoid Adenocarcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	1146884	\N	\N	EFO	3	EFO	endocrine system disease	Hepatoid Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	2029247	\N	\N	EFO	4	EFO	neoplasm	Hepatoid Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	2029248	\N	\N	EFO	4	EFO	neoplasm	Hepatoid Adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	2029249	\N	\N	EFO	4	EFO	disease	Hepatoid Adenocarcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	2029250	\N	\N	EFO	4	EFO	disease	Hepatoid Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	3180234	\N	\N	EFO	5	EFO	disease	Hepatoid Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	4132908	\N	\N	EFO	6	EFO	disposition	Hepatoid Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	5181175	\N	\N	EFO	7	EFO	material property	Hepatoid Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000293	"An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." []	5996678	\N	\N	EFO	8	EFO	experimental factor	Hepatoid Adenocarcinoma
EFO:1000294	\N	\N	"A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." []	EFO:1000294	"A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." []	69893	\N	\N	EFO	0	EFO	HER2 Positive Breast Carcinoma	HER2 Positive Breast Carcinoma
EFO:0000305	EFO:1000294	\N	"Tumors or cancer of the human BREAST." []	EFO:1000294	"A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." []	212166	\N	\N	EFO	1	EFO	breast carcinoma	HER2 Positive Breast Carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000294	"A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." []	565627	\N	\N	EFO	2	EFO	carcinoma	HER2 Positive Breast Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000294	"A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." []	1146885	\N	\N	EFO	3	EFO	cancer	HER2 Positive Breast Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000294	"A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." []	1146886	\N	\N	EFO	3	EFO	epithelial neoplasm	HER2 Positive Breast Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000294	"A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." []	2029252	\N	\N	EFO	4	EFO	neoplasm	HER2 Positive Breast Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000294	"A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." []	2029253	\N	\N	EFO	4	EFO	neoplasm	HER2 Positive Breast Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000294	"A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." []	3180236	\N	\N	EFO	5	EFO	disease	HER2 Positive Breast Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000294	"A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." []	4389072	\N	\N	EFO	6	EFO	disposition	HER2 Positive Breast Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000294	"A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." []	5409117	\N	\N	EFO	7	EFO	material property	HER2 Positive Breast Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000294	"A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." []	6147576	\N	\N	EFO	8	EFO	experimental factor	HER2 Positive Breast Carcinoma
EFO:1000295	\N	\N	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	69894	\N	\N	EFO	0	EFO	Hidradenocarcinoma	Hidradenocarcinoma
EFO:0000348	EFO:1000295	\N	"An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)" []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	212167	\N	\N	EFO	1	EFO	clear cell adenocarcinoma	Hidradenocarcinoma
EFO:0005591	EFO:1000295	\N	"A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	212168	\N	\N	EFO	1	EFO	sweat gland carcinoma	Hidradenocarcinoma
EFO:0000228	EFO:0000348	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	565628	\N	\N	EFO	2	EFO	adenocarcinoma	Hidradenocarcinoma
EFO:0000313	EFO:0005591	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	565629	\N	\N	EFO	2	EFO	carcinoma	Hidradenocarcinoma
EFO:0004198	EFO:0005591	\N	"Tumors or cancer of the SKIN." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	565630	\N	\N	EFO	2	EFO	skin neoplasm	Hidradenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	1146887	\N	\N	EFO	3	EFO	carcinoma	Hidradenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	2029254	\N	\N	EFO	4	EFO	cancer	Hidradenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	2029255	\N	\N	EFO	4	EFO	epithelial neoplasm	Hidradenocarcinoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	1146890	\N	\N	EFO	3	EFO	neoplasm	Hidradenocarcinoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	1146891	\N	\N	EFO	3	EFO	skin disease	Hidradenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	2999972	\N	\N	EFO	5	EFO	neoplasm	Hidradenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	2999973	\N	\N	EFO	5	EFO	neoplasm	Hidradenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	4132909	\N	\N	EFO	6	EFO	disease	Hidradenocarcinoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	2029259	\N	\N	EFO	4	EFO	disease	Hidradenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	5059434	\N	\N	EFO	7	EFO	disposition	Hidradenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	5876599	\N	\N	EFO	8	EFO	material property	Hidradenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000295	"A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." []	6469847	\N	\N	EFO	9	EFO	experimental factor	Hidradenocarcinoma
EFO:1000296	\N	\N	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	69895	\N	\N	EFO	0	EFO	High Grade Surface Osteosarcoma	High Grade Surface Osteosarcoma
EFO:0000637	EFO:1000296	\N	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	212169	\N	\N	EFO	1	EFO	osteosarcoma	High Grade Surface Osteosarcoma
EFO:0000691	EFO:0000637	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	565631	\N	\N	EFO	2	EFO	sarcoma	High Grade Surface Osteosarcoma
EFO:0003820	EFO:0000637	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	565632	\N	\N	EFO	2	EFO	bone neoplasm	High Grade Surface Osteosarcoma
EFO:0004260	EFO:0000637	\N	"Diseases of BONES." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	565633	\N	\N	EFO	2	EFO	bone disease	High Grade Surface Osteosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	1146892	\N	\N	EFO	3	EFO	cancer	High Grade Surface Osteosarcoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	1146893	\N	\N	EFO	3	EFO	neoplasm	High Grade Surface Osteosarcoma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	1146894	\N	\N	EFO	3	EFO	skeletal system disease	High Grade Surface Osteosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	2029260	\N	\N	EFO	4	EFO	neoplasm	High Grade Surface Osteosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	3180239	\N	\N	EFO	5	EFO	disease	High Grade Surface Osteosarcoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	2029262	\N	\N	EFO	4	EFO	disease	High Grade Surface Osteosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	4132911	\N	\N	EFO	6	EFO	disposition	High Grade Surface Osteosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	5181177	\N	\N	EFO	7	EFO	material property	High Grade Surface Osteosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000296	"A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." []	5996680	\N	\N	EFO	8	EFO	experimental factor	High Grade Surface Osteosarcoma
EFO:1000297	\N	\N	"Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" []	EFO:1000297	"Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" []	69896	\N	\N	EFO	0	EFO	Histiocytic and Dendritic Cell Neoplasm	Histiocytic and Dendritic Cell Neoplasm
EFO:0000319	EFO:1000297	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000297	"Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" []	212170	\N	\N	EFO	1	EFO	cardiovascular disease	Histiocytic and Dendritic Cell Neoplasm
EFO:0000616	EFO:1000297	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000297	"Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" []	212171	\N	\N	EFO	1	EFO	neoplasm	Histiocytic and Dendritic Cell Neoplasm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000297	"Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" []	565634	\N	\N	EFO	2	EFO	disease	Histiocytic and Dendritic Cell Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000297	"Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" []	565635	\N	\N	EFO	2	EFO	disease	Histiocytic and Dendritic Cell Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000297	"Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" []	1146895	\N	\N	EFO	3	EFO	disposition	Histiocytic and Dendritic Cell Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000297	"Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" []	2029263	\N	\N	EFO	4	EFO	material property	Histiocytic and Dendritic Cell Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000297	"Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" []	3180241	\N	\N	EFO	5	EFO	experimental factor	Histiocytic and Dendritic Cell Neoplasm
EFO:1000298	\N	\N	"A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." []	EFO:1000298	"A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." []	69897	\N	\N	EFO	0	EFO	Hydatidiform Mole	Hydatidiform Mole
EFO:0000512	EFO:1000298	\N	"any diease of the reproductive system" []	EFO:1000298	"A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." []	212172	\N	\N	EFO	1	EFO	reproductive system disease	Hydatidiform Mole
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000298	"A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." []	565636	\N	\N	EFO	2	EFO	disease	Hydatidiform Mole
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000298	"A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." []	1146896	\N	\N	EFO	3	EFO	disposition	Hydatidiform Mole
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000298	"A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." []	2029264	\N	\N	EFO	4	EFO	material property	Hydatidiform Mole
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000298	"A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." []	3180242	\N	\N	EFO	5	EFO	experimental factor	Hydatidiform Mole
EFO:1000299	\N	\N	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	69898	\N	\N	EFO	0	EFO	Hyperplastic Polyp	Hyperplastic Polyp
EFO:0000662	EFO:1000299	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	212173	\N	\N	EFO	1	EFO	polyp	Hyperplastic Polyp
EFO:0003897	EFO:1000299	\N	"Tumors or cancer of the STOMACH." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	212174	\N	\N	EFO	1	EFO	stomach neoplasm	Hyperplastic Polyp
EFO:0004288	EFO:1000299	\N	"Tumors or cancer of the COLON." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	212175	\N	\N	EFO	1	EFO	colonic neoplasm	Hyperplastic Polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	565637	\N	\N	EFO	2	EFO	neoplasm	Hyperplastic Polyp
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	565638	\N	\N	EFO	2	EFO	digestive system disease	Hyperplastic Polyp
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	565639	\N	\N	EFO	2	EFO	neoplasm	Hyperplastic Polyp
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	565640	\N	\N	EFO	2	EFO	digestive system disease	Hyperplastic Polyp
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	565641	\N	\N	EFO	2	EFO	neoplasm	Hyperplastic Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	1146897	\N	\N	EFO	3	EFO	disease	Hyperplastic Polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	1146898	\N	\N	EFO	3	EFO	disease	Hyperplastic Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	2029265	\N	\N	EFO	4	EFO	disposition	Hyperplastic Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	3180243	\N	\N	EFO	5	EFO	material property	Hyperplastic Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000299	"A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." []	4389075	\N	\N	EFO	6	EFO	experimental factor	Hyperplastic Polyp
EFO:1000300	\N	\N	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	EFO:1000300	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	69899	\N	\N	EFO	0	EFO	Ileal Neuroendocrine Tumor G1	Ileal Neuroendocrine Tumor G1
EFO:0004243	EFO:1000300	\N	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	EFO:1000300	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	212176	\N	\N	EFO	1	EFO	carcinoid tumor	Ileal Neuroendocrine Tumor G1
EFO:0004288	EFO:1000300	\N	"Tumors or cancer of the COLON." []	EFO:1000300	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	212177	\N	\N	EFO	1	EFO	colonic neoplasm	Ileal Neuroendocrine Tumor G1
EFO:0000616	EFO:0004243	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000300	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565642	\N	\N	EFO	2	EFO	neoplasm	Ileal Neuroendocrine Tumor G1
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000300	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565643	\N	\N	EFO	2	EFO	digestive system disease	Ileal Neuroendocrine Tumor G1
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000300	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565644	\N	\N	EFO	2	EFO	neoplasm	Ileal Neuroendocrine Tumor G1
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000300	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146899	\N	\N	EFO	3	EFO	disease	Ileal Neuroendocrine Tumor G1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000300	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146900	\N	\N	EFO	3	EFO	disease	Ileal Neuroendocrine Tumor G1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000300	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	2029266	\N	\N	EFO	4	EFO	disposition	Ileal Neuroendocrine Tumor G1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000300	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	3180244	\N	\N	EFO	5	EFO	material property	Ileal Neuroendocrine Tumor G1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000300	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	4389076	\N	\N	EFO	6	EFO	experimental factor	Ileal Neuroendocrine Tumor G1
EFO:1000301	\N	\N	"A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." []	EFO:1000301	"A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." []	69900	\N	\N	EFO	0	EFO	Inclusion Body Fibromatosis	Inclusion Body Fibromatosis
EFO:0000497	EFO:1000301	\N	"A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." []	EFO:1000301	"A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." []	212178	\N	\N	EFO	1	EFO	fibromatosis	Inclusion Body Fibromatosis
EFO:0000616	EFO:0000497	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000301	"A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." []	565645	\N	\N	EFO	2	EFO	neoplasm	Inclusion Body Fibromatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000301	"A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." []	1146901	\N	\N	EFO	3	EFO	disease	Inclusion Body Fibromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000301	"A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." []	2029267	\N	\N	EFO	4	EFO	disposition	Inclusion Body Fibromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000301	"A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." []	3180245	\N	\N	EFO	5	EFO	material property	Inclusion Body Fibromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000301	"A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." []	4389077	\N	\N	EFO	6	EFO	experimental factor	Inclusion Body Fibromatosis
EFO:1000302	\N	\N	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	69901	\N	\N	EFO	0	EFO	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
EFO:0000292	EFO:1000302	\N	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	212179	\N	\N	EFO	1	EFO	bladder carcinoma	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
EFO:0000313	EFO:0000292	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	565646	\N	\N	EFO	2	EFO	carcinoma	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
EFO:1000018	EFO:0000292	\N	"A disorder affecting the urinary bladder" []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	565647	\N	\N	EFO	2	EFO	bladder disease	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	1146902	\N	\N	EFO	3	EFO	cancer	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	1146903	\N	\N	EFO	3	EFO	epithelial neoplasm	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	1146904	\N	\N	EFO	3	EFO	disease	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	2029268	\N	\N	EFO	4	EFO	neoplasm	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	2029269	\N	\N	EFO	4	EFO	neoplasm	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	4389078	\N	\N	EFO	6	EFO	disposition	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	3180246	\N	\N	EFO	5	EFO	disease	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	5059435	\N	\N	EFO	7	EFO	material property	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000302	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C39821&ns=NCI_Thesaurus" []	5876600	\N	\N	EFO	8	EFO	experimental factor	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma
EFO:1000303	\N	\N	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	69902	\N	\N	EFO	0	EFO	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
EFO:0000292	EFO:1000303	\N	"Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	212180	\N	\N	EFO	1	EFO	bladder carcinoma	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
EFO:0000313	EFO:0000292	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	565648	\N	\N	EFO	2	EFO	carcinoma	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
EFO:1000018	EFO:0000292	\N	"A disorder affecting the urinary bladder" []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	565649	\N	\N	EFO	2	EFO	bladder disease	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	1146905	\N	\N	EFO	3	EFO	cancer	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	1146906	\N	\N	EFO	3	EFO	epithelial neoplasm	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	1146907	\N	\N	EFO	3	EFO	disease	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	2029271	\N	\N	EFO	4	EFO	neoplasm	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	2029272	\N	\N	EFO	4	EFO	neoplasm	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	4389080	\N	\N	EFO	6	EFO	disposition	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	3180248	\N	\N	EFO	5	EFO	disease	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	5059436	\N	\N	EFO	7	EFO	material property	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000303	"An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." []	5876601	\N	\N	EFO	8	EFO	experimental factor	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
EFO:1000304	\N	\N	"An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." []	EFO:1000304	"An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." []	69903	\N	\N	EFO	0	EFO	Intestinal Type Adenocarcinoma	Intestinal Type Adenocarcinoma
EFO:0000228	EFO:1000304	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000304	"An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." []	212181	\N	\N	EFO	1	EFO	adenocarcinoma	Intestinal Type Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000304	"An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." []	565650	\N	\N	EFO	2	EFO	carcinoma	Intestinal Type Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000304	"An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." []	1146908	\N	\N	EFO	3	EFO	cancer	Intestinal Type Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000304	"An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." []	1146909	\N	\N	EFO	3	EFO	epithelial neoplasm	Intestinal Type Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000304	"An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." []	2029274	\N	\N	EFO	4	EFO	neoplasm	Intestinal Type Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000304	"An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." []	2029275	\N	\N	EFO	4	EFO	neoplasm	Intestinal Type Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000304	"An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." []	3180250	\N	\N	EFO	5	EFO	disease	Intestinal Type Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000304	"An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." []	4389082	\N	\N	EFO	6	EFO	disposition	Intestinal Type Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000304	"An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." []	5409120	\N	\N	EFO	7	EFO	material property	Intestinal Type Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000304	"An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." []	6147577	\N	\N	EFO	8	EFO	experimental factor	Intestinal Type Adenocarcinoma
EFO:1000305	\N	\N	"A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." []	EFO:1000305	"A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." []	69904	\N	\N	EFO	0	EFO	Intimal Sarcoma	Intimal Sarcoma
EFO:0000691	EFO:1000305	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000305	"A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." []	212182	\N	\N	EFO	1	EFO	sarcoma	Intimal Sarcoma
EFO:0004264	EFO:1000305	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000305	"A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." []	212183	\N	\N	EFO	1	EFO	vascular disease	Intimal Sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000305	"A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." []	565651	\N	\N	EFO	2	EFO	cancer	Intimal Sarcoma
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000305	"A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." []	565652	\N	\N	EFO	2	EFO	cardiovascular disease	Intimal Sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000305	"A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." []	1146910	\N	\N	EFO	3	EFO	neoplasm	Intimal Sarcoma
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000305	"A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." []	1146911	\N	\N	EFO	3	EFO	disease	Intimal Sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000305	"A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." []	2029276	\N	\N	EFO	4	EFO	disease	Intimal Sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000305	"A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." []	3180251	\N	\N	EFO	5	EFO	disposition	Intimal Sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000305	"A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." []	4132912	\N	\N	EFO	6	EFO	material property	Intimal Sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000305	"A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." []	5181178	\N	\N	EFO	7	EFO	experimental factor	Intimal Sarcoma
EFO:1000306	\N	\N	"A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." []	EFO:1000306	"A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." []	69905	\N	\N	EFO	0	EFO	Intraductal Breast Papilloma	Intraductal Breast Papilloma
EFO:0003869	EFO:1000306	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:1000306	"A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." []	212184	\N	\N	EFO	1	EFO	breast neoplasm	Intraductal Breast Papilloma
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000306	"A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." []	565653	\N	\N	EFO	2	EFO	neoplasm	Intraductal Breast Papilloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000306	"A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." []	1146912	\N	\N	EFO	3	EFO	disease	Intraductal Breast Papilloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000306	"A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." []	2029278	\N	\N	EFO	4	EFO	disposition	Intraductal Breast Papilloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000306	"A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." []	3180253	\N	\N	EFO	5	EFO	material property	Intraductal Breast Papilloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000306	"A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." []	4389084	\N	\N	EFO	6	EFO	experimental factor	Intraductal Breast Papilloma
EFO:1000307	\N	\N	"A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." []	EFO:1000307	"A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." []	69906	\N	\N	EFO	0	EFO	Invasive Breast Carcinoma	Invasive Breast Carcinoma
EFO:0000305	EFO:1000307	\N	"Tumors or cancer of the human BREAST." []	EFO:1000307	"A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." []	212185	\N	\N	EFO	1	EFO	breast carcinoma	Invasive Breast Carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000307	"A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." []	565654	\N	\N	EFO	2	EFO	carcinoma	Invasive Breast Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000307	"A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." []	1146913	\N	\N	EFO	3	EFO	cancer	Invasive Breast Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000307	"A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." []	1146914	\N	\N	EFO	3	EFO	epithelial neoplasm	Invasive Breast Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000307	"A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." []	2029279	\N	\N	EFO	4	EFO	neoplasm	Invasive Breast Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000307	"A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." []	2029280	\N	\N	EFO	4	EFO	neoplasm	Invasive Breast Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000307	"A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." []	3180254	\N	\N	EFO	5	EFO	disease	Invasive Breast Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000307	"A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." []	4389085	\N	\N	EFO	6	EFO	disposition	Invasive Breast Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000307	"A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." []	5409121	\N	\N	EFO	7	EFO	material property	Invasive Breast Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000307	"A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." []	6147578	\N	\N	EFO	8	EFO	experimental factor	Invasive Breast Carcinoma
EFO:1000308	\N	\N	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	EFO:1000308	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	69907	\N	\N	EFO	0	EFO	Jejunal Neuroendocrine Tumor G1	Jejunal Neuroendocrine Tumor G1
EFO:0004243	EFO:1000308	\N	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	EFO:1000308	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	212186	\N	\N	EFO	1	EFO	carcinoid tumor	Jejunal Neuroendocrine Tumor G1
EFO:0004288	EFO:1000308	\N	"Tumors or cancer of the COLON." []	EFO:1000308	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	212187	\N	\N	EFO	1	EFO	colonic neoplasm	Jejunal Neuroendocrine Tumor G1
EFO:0000616	EFO:0004243	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000308	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565655	\N	\N	EFO	2	EFO	neoplasm	Jejunal Neuroendocrine Tumor G1
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000308	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565656	\N	\N	EFO	2	EFO	digestive system disease	Jejunal Neuroendocrine Tumor G1
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000308	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	565657	\N	\N	EFO	2	EFO	neoplasm	Jejunal Neuroendocrine Tumor G1
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000308	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146915	\N	\N	EFO	3	EFO	disease	Jejunal Neuroendocrine Tumor G1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000308	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	1146916	\N	\N	EFO	3	EFO	disease	Jejunal Neuroendocrine Tumor G1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000308	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	2029281	\N	\N	EFO	4	EFO	disposition	Jejunal Neuroendocrine Tumor G1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000308	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	3180255	\N	\N	EFO	5	EFO	material property	Jejunal Neuroendocrine Tumor G1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000308	"A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." []	4389086	\N	\N	EFO	6	EFO	experimental factor	Jejunal Neuroendocrine Tumor G1
EFO:1000309	\N	\N	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	69908	\N	\N	EFO	0	EFO	Juvenile Myelomonocytic Leukemia	Juvenile Myelomonocytic Leukemia
EFO:0000565	EFO:1000309	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	212188	\N	\N	EFO	1	EFO	leukemia	Juvenile Myelomonocytic Leukemia
EFO:0002427	EFO:1000309	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	212189	\N	\N	EFO	1	EFO	myeloid neoplasm	Juvenile Myelomonocytic Leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	565658	\N	\N	EFO	2	EFO	lymphoid neoplasm	Juvenile Myelomonocytic Leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	565659	\N	\N	EFO	2	EFO	lymphoid neoplasm	Juvenile Myelomonocytic Leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	1146917	\N	\N	EFO	3	EFO	cancer	Juvenile Myelomonocytic Leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	1146918	\N	\N	EFO	3	EFO	hematological system disease	Juvenile Myelomonocytic Leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	2029282	\N	\N	EFO	4	EFO	neoplasm	Juvenile Myelomonocytic Leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	2029283	\N	\N	EFO	4	EFO	disease	Juvenile Myelomonocytic Leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	3180256	\N	\N	EFO	5	EFO	disease	Juvenile Myelomonocytic Leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	4389087	\N	\N	EFO	6	EFO	disposition	Juvenile Myelomonocytic Leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	5181179	\N	\N	EFO	7	EFO	material property	Juvenile Myelomonocytic Leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000309	"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" []	5996681	\N	\N	EFO	8	EFO	experimental factor	Juvenile Myelomonocytic Leukemia
EFO:1000310	\N	\N	"A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	EFO:1000310	"A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	69909	\N	\N	EFO	0	EFO	Juvenile Polyp	Juvenile Polyp
EFO:0000662	EFO:1000310	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000310	"A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	212190	\N	\N	EFO	1	EFO	polyp	Juvenile Polyp
EFO:0003897	EFO:1000310	\N	"Tumors or cancer of the STOMACH." []	EFO:1000310	"A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	212191	\N	\N	EFO	1	EFO	stomach neoplasm	Juvenile Polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000310	"A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	565660	\N	\N	EFO	2	EFO	neoplasm	Juvenile Polyp
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000310	"A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	565661	\N	\N	EFO	2	EFO	digestive system disease	Juvenile Polyp
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000310	"A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	565662	\N	\N	EFO	2	EFO	neoplasm	Juvenile Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000310	"A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	1146919	\N	\N	EFO	3	EFO	disease	Juvenile Polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000310	"A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	1146920	\N	\N	EFO	3	EFO	disease	Juvenile Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000310	"A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	2029284	\N	\N	EFO	4	EFO	disposition	Juvenile Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000310	"A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	3180258	\N	\N	EFO	5	EFO	material property	Juvenile Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000310	"A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." []	4389089	\N	\N	EFO	6	EFO	experimental factor	Juvenile Polyp
EFO:1000311	\N	\N	"A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." []	EFO:1000311	"A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." []	69910	\N	\N	EFO	0	EFO	Juvenile Xanthogranuloma	Juvenile Xanthogranuloma
EFO:0000616	EFO:1000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000311	"A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." []	212192	\N	\N	EFO	1	EFO	neoplasm	Juvenile Xanthogranuloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000311	"A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." []	565663	\N	\N	EFO	2	EFO	disease	Juvenile Xanthogranuloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000311	"A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." []	1146921	\N	\N	EFO	3	EFO	disposition	Juvenile Xanthogranuloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000311	"A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." []	2029285	\N	\N	EFO	4	EFO	material property	Juvenile Xanthogranuloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000311	"A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." []	3180259	\N	\N	EFO	5	EFO	experimental factor	Juvenile Xanthogranuloma
EFO:1000312	\N	\N	"An angiomyolipoma arising from the kidney." []	EFO:1000312	"An angiomyolipoma arising from the kidney." []	69911	\N	\N	EFO	0	EFO	Kidney Angiomyolipoma	Kidney Angiomyolipoma
EFO:0003865	EFO:1000312	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000312	"An angiomyolipoma arising from the kidney." []	212193	\N	\N	EFO	1	EFO	kidney neoplasm	Kidney Angiomyolipoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000312	"An angiomyolipoma arising from the kidney." []	565664	\N	\N	EFO	2	EFO	kidney disease	Kidney Angiomyolipoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000312	"An angiomyolipoma arising from the kidney." []	565665	\N	\N	EFO	2	EFO	urogenital neoplasm	Kidney Angiomyolipoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000312	"An angiomyolipoma arising from the kidney." []	1146922	\N	\N	EFO	3	EFO	disease	Kidney Angiomyolipoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000312	"An angiomyolipoma arising from the kidney." []	1146923	\N	\N	EFO	3	EFO	neoplasm	Kidney Angiomyolipoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000312	"An angiomyolipoma arising from the kidney." []	3180261	\N	\N	EFO	5	EFO	disposition	Kidney Angiomyolipoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000312	"An angiomyolipoma arising from the kidney." []	2029287	\N	\N	EFO	4	EFO	disease	Kidney Angiomyolipoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000312	"An angiomyolipoma arising from the kidney." []	4132913	\N	\N	EFO	6	EFO	material property	Kidney Angiomyolipoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000312	"An angiomyolipoma arising from the kidney." []	5181180	\N	\N	EFO	7	EFO	experimental factor	Kidney Angiomyolipoma
EFO:1000313	\N	\N	"Abnormal fluid filled sac within the kidney, either acquired or congenital." []	EFO:1000313	"Abnormal fluid filled sac within the kidney, either acquired or congenital." []	69912	\N	\N	EFO	0	EFO	Kidney Cyst	Kidney Cyst
EFO:0003865	EFO:1000313	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000313	"Abnormal fluid filled sac within the kidney, either acquired or congenital." []	212194	\N	\N	EFO	1	EFO	kidney neoplasm	Kidney Cyst
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000313	"Abnormal fluid filled sac within the kidney, either acquired or congenital." []	565666	\N	\N	EFO	2	EFO	kidney disease	Kidney Cyst
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000313	"Abnormal fluid filled sac within the kidney, either acquired or congenital." []	565667	\N	\N	EFO	2	EFO	urogenital neoplasm	Kidney Cyst
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000313	"Abnormal fluid filled sac within the kidney, either acquired or congenital." []	1146924	\N	\N	EFO	3	EFO	disease	Kidney Cyst
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000313	"Abnormal fluid filled sac within the kidney, either acquired or congenital." []	1146925	\N	\N	EFO	3	EFO	neoplasm	Kidney Cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000313	"Abnormal fluid filled sac within the kidney, either acquired or congenital." []	3180263	\N	\N	EFO	5	EFO	disposition	Kidney Cyst
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000313	"Abnormal fluid filled sac within the kidney, either acquired or congenital." []	2029289	\N	\N	EFO	4	EFO	disease	Kidney Cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000313	"Abnormal fluid filled sac within the kidney, either acquired or congenital." []	4132914	\N	\N	EFO	6	EFO	material property	Kidney Cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000313	"Abnormal fluid filled sac within the kidney, either acquired or congenital." []	5181181	\N	\N	EFO	7	EFO	experimental factor	Kidney Cyst
EFO:1000314	\N	\N	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	69913	\N	\N	EFO	0	EFO	Kidney Medullary Carcinoma	Kidney Medullary Carcinoma
EFO:0002890	EFO:1000314	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	212195	\N	\N	EFO	1	EFO	renal carcinoma	Kidney Medullary Carcinoma
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	565668	\N	\N	EFO	2	EFO	carcinoma	Kidney Medullary Carcinoma
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	565669	\N	\N	EFO	2	EFO	kidney neoplasm	Kidney Medullary Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	1146926	\N	\N	EFO	3	EFO	cancer	Kidney Medullary Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	1146927	\N	\N	EFO	3	EFO	epithelial neoplasm	Kidney Medullary Carcinoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	1146928	\N	\N	EFO	3	EFO	kidney disease	Kidney Medullary Carcinoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	1146929	\N	\N	EFO	3	EFO	urogenital neoplasm	Kidney Medullary Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	2029290	\N	\N	EFO	4	EFO	neoplasm	Kidney Medullary Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	2029291	\N	\N	EFO	4	EFO	neoplasm	Kidney Medullary Carcinoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	2029292	\N	\N	EFO	4	EFO	disease	Kidney Medullary Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	2029293	\N	\N	EFO	4	EFO	neoplasm	Kidney Medullary Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	3180264	\N	\N	EFO	5	EFO	disease	Kidney Medullary Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	4389092	\N	\N	EFO	6	EFO	disposition	Kidney Medullary Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	5181182	\N	\N	EFO	7	EFO	material property	Kidney Medullary Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000314	"A recently described type of renal carcinoma, affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." []	5996682	\N	\N	EFO	8	EFO	experimental factor	Kidney Medullary Carcinoma
EFO:1000315	\N	\N	"A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." []	EFO:1000315	"A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." []	69914	\N	\N	EFO	0	EFO	Kidney Oncocytoma	Kidney Oncocytoma
EFO:0003865	EFO:1000315	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000315	"A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." []	212196	\N	\N	EFO	1	EFO	kidney neoplasm	Kidney Oncocytoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000315	"A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." []	565670	\N	\N	EFO	2	EFO	kidney disease	Kidney Oncocytoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000315	"A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." []	565671	\N	\N	EFO	2	EFO	urogenital neoplasm	Kidney Oncocytoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000315	"A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." []	1146930	\N	\N	EFO	3	EFO	disease	Kidney Oncocytoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000315	"A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." []	1146931	\N	\N	EFO	3	EFO	neoplasm	Kidney Oncocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000315	"A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." []	3180267	\N	\N	EFO	5	EFO	disposition	Kidney Oncocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000315	"A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." []	2029295	\N	\N	EFO	4	EFO	disease	Kidney Oncocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000315	"A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." []	4132915	\N	\N	EFO	6	EFO	material property	Kidney Oncocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000315	"A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." []	5181183	\N	\N	EFO	7	EFO	experimental factor	Kidney Oncocytoma
EFO:1000316	\N	\N	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	69915	\N	\N	EFO	0	EFO	Krukenberg Tumor	Krukenberg Tumor
EFO:0000228	EFO:1000316	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	212197	\N	\N	EFO	1	EFO	adenocarcinoma	Krukenberg Tumor
EFO:0000698	EFO:1000316	\N	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	212198	\N	\N	EFO	1	EFO	signet ring cell carcinoma	Krukenberg Tumor
EFO:0003893	EFO:1000316	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	212199	\N	\N	EFO	1	EFO	ovarian neoplasm	Krukenberg Tumor
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	565672	\N	\N	EFO	2	EFO	carcinoma	Krukenberg Tumor
EFO:0000313	EFO:0000698	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	565673	\N	\N	EFO	2	EFO	carcinoma	Krukenberg Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	565674	\N	\N	EFO	2	EFO	urogenital neoplasm	Krukenberg Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	565675	\N	\N	EFO	2	EFO	ovarian disease	Krukenberg Tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	1146932	\N	\N	EFO	3	EFO	cancer	Krukenberg Tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	1146933	\N	\N	EFO	3	EFO	epithelial neoplasm	Krukenberg Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	1146934	\N	\N	EFO	3	EFO	neoplasm	Krukenberg Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	1146935	\N	\N	EFO	3	EFO	reproductive system disease	Krukenberg Tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	2029296	\N	\N	EFO	4	EFO	neoplasm	Krukenberg Tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	2029297	\N	\N	EFO	4	EFO	neoplasm	Krukenberg Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	3180268	\N	\N	EFO	5	EFO	disease	Krukenberg Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	2029299	\N	\N	EFO	4	EFO	disease	Krukenberg Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	4132916	\N	\N	EFO	6	EFO	disposition	Krukenberg Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	5181184	\N	\N	EFO	7	EFO	material property	Krukenberg Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000316	"Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." []	5996683	\N	\N	EFO	8	EFO	experimental factor	Krukenberg Tumor
EFO:1000317	\N	\N	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	69916	\N	\N	EFO	0	EFO	Lacrimal Gland Adenoid Cystic Carcinoma	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0000231	EFO:1000317	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	212200	\N	\N	EFO	1	EFO	adenoid cystic carcinoma	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0003966	EFO:1000317	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	212201	\N	\N	EFO	1	EFO	eye disease	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0005950	EFO:1000317	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	212202	\N	\N	EFO	1	EFO	head and neck neoplasia	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	565676	\N	\N	EFO	2	EFO	carcinoma	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	565677	\N	\N	EFO	2	EFO	disease	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	565678	\N	\N	EFO	2	EFO	head disease	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	565679	\N	\N	EFO	2	EFO	neoplasm	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	1146936	\N	\N	EFO	3	EFO	cancer	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	1146937	\N	\N	EFO	3	EFO	epithelial neoplasm	Lacrimal Gland Adenoid Cystic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	4066762	\N	\N	EFO	6	EFO	disposition	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	1146939	\N	\N	EFO	3	EFO	disease	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	3180270	\N	\N	EFO	5	EFO	disease	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	2029300	\N	\N	EFO	4	EFO	neoplasm	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	2029301	\N	\N	EFO	4	EFO	neoplasm	Lacrimal Gland Adenoid Cystic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	5028351	\N	\N	EFO	7	EFO	material property	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000317	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus" []	5817392	\N	\N	EFO	8	EFO	experimental factor	Lacrimal Gland Adenoid Cystic Carcinoma
EFO:1000318	\N	\N	"A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001)" []	EFO:1000318	"A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001)" []	69917	\N	\N	EFO	0	EFO	Langerhans Cell Histiocytosis	Langerhans Cell Histiocytosis
EFO:0000616	EFO:1000318	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000318	"A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001)" []	212203	\N	\N	EFO	1	EFO	neoplasm	Langerhans Cell Histiocytosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000318	"A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001)" []	565680	\N	\N	EFO	2	EFO	disease	Langerhans Cell Histiocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000318	"A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001)" []	1146941	\N	\N	EFO	3	EFO	disposition	Langerhans Cell Histiocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000318	"A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001)" []	2029304	\N	\N	EFO	4	EFO	material property	Langerhans Cell Histiocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000318	"A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001)" []	3180272	\N	\N	EFO	5	EFO	experimental factor	Langerhans Cell Histiocytosis
EFO:1000319	\N	\N	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	69918	\N	\N	EFO	0	EFO	Laryngeal Adenoid Cystic Carcinoma	Laryngeal Adenoid Cystic Carcinoma
EFO:0000231	EFO:1000319	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	212204	\N	\N	EFO	1	EFO	adenoid cystic carcinoma	Laryngeal Adenoid Cystic Carcinoma
EFO:0003817	EFO:1000319	\N	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	212205	\N	\N	EFO	1	EFO	laryngeal neoplasm	Laryngeal Adenoid Cystic Carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	565681	\N	\N	EFO	2	EFO	carcinoma	Laryngeal Adenoid Cystic Carcinoma
EFO:0003853	EFO:0003817	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	565682	\N	\N	EFO	2	EFO	respiratory system neoplasm	Laryngeal Adenoid Cystic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	1146942	\N	\N	EFO	3	EFO	cancer	Laryngeal Adenoid Cystic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	1146943	\N	\N	EFO	3	EFO	epithelial neoplasm	Laryngeal Adenoid Cystic Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	1146944	\N	\N	EFO	3	EFO	neoplasm	Laryngeal Adenoid Cystic Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	1146945	\N	\N	EFO	3	EFO	respiratory system disease	Laryngeal Adenoid Cystic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	2029305	\N	\N	EFO	4	EFO	neoplasm	Laryngeal Adenoid Cystic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	2029306	\N	\N	EFO	4	EFO	neoplasm	Laryngeal Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	3180273	\N	\N	EFO	5	EFO	disease	Laryngeal Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	2029308	\N	\N	EFO	4	EFO	disease	Laryngeal Adenoid Cystic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	4132918	\N	\N	EFO	6	EFO	disposition	Laryngeal Adenoid Cystic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	5181185	\N	\N	EFO	7	EFO	material property	Laryngeal Adenoid Cystic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000319	"A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." []	5996684	\N	\N	EFO	8	EFO	experimental factor	Laryngeal Adenoid Cystic Carcinoma
EFO:1000320	\N	\N	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	69919	\N	\N	EFO	0	EFO	Laryngeal Small Cell Carcinoma	Laryngeal Small Cell Carcinoma
EFO:0000313	EFO:1000320	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	212206	\N	\N	EFO	1	EFO	carcinoma	Laryngeal Small Cell Carcinoma
EFO:0003817	EFO:1000320	\N	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	212207	\N	\N	EFO	1	EFO	laryngeal neoplasm	Laryngeal Small Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	565683	\N	\N	EFO	2	EFO	cancer	Laryngeal Small Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	565684	\N	\N	EFO	2	EFO	epithelial neoplasm	Laryngeal Small Cell Carcinoma
EFO:0003853	EFO:0003817	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	565685	\N	\N	EFO	2	EFO	respiratory system neoplasm	Laryngeal Small Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	1146946	\N	\N	EFO	3	EFO	neoplasm	Laryngeal Small Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	1146947	\N	\N	EFO	3	EFO	neoplasm	Laryngeal Small Cell Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	1146948	\N	\N	EFO	3	EFO	neoplasm	Laryngeal Small Cell Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	1146949	\N	\N	EFO	3	EFO	respiratory system disease	Laryngeal Small Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	2029309	\N	\N	EFO	4	EFO	disease	Laryngeal Small Cell Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	2029310	\N	\N	EFO	4	EFO	disease	Laryngeal Small Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	3180275	\N	\N	EFO	5	EFO	disposition	Laryngeal Small Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	4389097	\N	\N	EFO	6	EFO	material property	Laryngeal Small Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000320	"A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." []	5409126	\N	\N	EFO	7	EFO	experimental factor	Laryngeal Small Cell Carcinoma
EFO:1000321	\N	\N	"A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." []	EFO:1000321	"A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." []	69920	\N	\N	EFO	0	EFO	Leydig Cell Tumor	Leydig Cell Tumor
EFO:0003769	EFO:1000321	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000321	"A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." []	212208	\N	\N	EFO	1	EFO	endocrine neoplasm	Leydig Cell Tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000321	"A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." []	565686	\N	\N	EFO	2	EFO	neoplasm	Leydig Cell Tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000321	"A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." []	565687	\N	\N	EFO	2	EFO	endocrine system disease	Leydig Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000321	"A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." []	1146950	\N	\N	EFO	3	EFO	disease	Leydig Cell Tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000321	"A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." []	1146951	\N	\N	EFO	3	EFO	disease	Leydig Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000321	"A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." []	2029311	\N	\N	EFO	4	EFO	disposition	Leydig Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000321	"A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." []	3180276	\N	\N	EFO	5	EFO	material property	Leydig Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000321	"A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." []	4389098	\N	\N	EFO	6	EFO	experimental factor	Leydig Cell Tumor
EFO:1000322	\N	\N	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	69921	\N	\N	EFO	0	EFO	Liver Cavernous Hemangioma	Liver Cavernous Hemangioma
EFO:1001513	EFO:1000322	\N	"Tumors or cancers of the LIVER." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	212209	\N	\N	EFO	1	EFO	liver neoplasm	Liver Cavernous Hemangioma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	565688	\N	\N	EFO	2	EFO	liver disease	Liver Cavernous Hemangioma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	565689	\N	\N	EFO	2	EFO	endocrine neoplasm	Liver Cavernous Hemangioma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	1146952	\N	\N	EFO	3	EFO	digestive system disease	Liver Cavernous Hemangioma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	1146953	\N	\N	EFO	3	EFO	endocrine system disease	Liver Cavernous Hemangioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	1146954	\N	\N	EFO	3	EFO	neoplasm	Liver Cavernous Hemangioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	1146955	\N	\N	EFO	3	EFO	endocrine system disease	Liver Cavernous Hemangioma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	2029312	\N	\N	EFO	4	EFO	disease	Liver Cavernous Hemangioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	2029313	\N	\N	EFO	4	EFO	disease	Liver Cavernous Hemangioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	2029314	\N	\N	EFO	4	EFO	disease	Liver Cavernous Hemangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	3180277	\N	\N	EFO	5	EFO	disposition	Liver Cavernous Hemangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	4389099	\N	\N	EFO	6	EFO	material property	Liver Cavernous Hemangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000322	"A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." []	5409127	\N	\N	EFO	7	EFO	experimental factor	Liver Cavernous Hemangioma
EFO:1000323	\N	\N	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	69922	\N	\N	EFO	0	EFO	Liver Diffuse Large B-Cell Lymphoma	Liver Diffuse Large B-Cell Lymphoma
EFO:0000182	EFO:1000323	\N	"Tumors or cancer of the LIVER." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	212210	\N	\N	EFO	1	EFO	hepatocellular carcinoma	Liver Diffuse Large B-Cell Lymphoma
EFO:0000403	EFO:1000323	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	212211	\N	\N	EFO	1	EFO	diffuse large B-cell lymphoma	Liver Diffuse Large B-Cell Lymphoma
EFO:0000313	EFO:0000182	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	565690	\N	\N	EFO	2	EFO	carcinoma	Liver Diffuse Large B-Cell Lymphoma
EFO:1001513	EFO:0000182	\N	"Tumors or cancers of the LIVER." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	565691	\N	\N	EFO	2	EFO	liver neoplasm	Liver Diffuse Large B-Cell Lymphoma
EFO:0000096	EFO:0000403	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	565692	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	Liver Diffuse Large B-Cell Lymphoma
EFO:0000574	EFO:0000403	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	565693	\N	\N	EFO	2	EFO	lymphoma	Liver Diffuse Large B-Cell Lymphoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	1146956	\N	\N	EFO	3	EFO	cancer	Liver Diffuse Large B-Cell Lymphoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	1146957	\N	\N	EFO	3	EFO	epithelial neoplasm	Liver Diffuse Large B-Cell Lymphoma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	1146958	\N	\N	EFO	3	EFO	liver disease	Liver Diffuse Large B-Cell Lymphoma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	1146959	\N	\N	EFO	3	EFO	endocrine neoplasm	Liver Diffuse Large B-Cell Lymphoma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	1146960	\N	\N	EFO	3	EFO	lymphoid neoplasm	Liver Diffuse Large B-Cell Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	1146961	\N	\N	EFO	3	EFO	lymphoid neoplasm	Liver Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	3180281	\N	\N	EFO	5	EFO	neoplasm	Liver Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	2029316	\N	\N	EFO	4	EFO	neoplasm	Liver Diffuse Large B-Cell Lymphoma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	2029317	\N	\N	EFO	4	EFO	digestive system disease	Liver Diffuse Large B-Cell Lymphoma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	2029318	\N	\N	EFO	4	EFO	endocrine system disease	Liver Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	2029319	\N	\N	EFO	4	EFO	neoplasm	Liver Diffuse Large B-Cell Lymphoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	2029320	\N	\N	EFO	4	EFO	endocrine system disease	Liver Diffuse Large B-Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	2029321	\N	\N	EFO	4	EFO	cancer	Liver Diffuse Large B-Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	2029322	\N	\N	EFO	4	EFO	hematological system disease	Liver Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	4132919	\N	\N	EFO	6	EFO	disease	Liver Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	3180279	\N	\N	EFO	5	EFO	disease	Liver Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	3180280	\N	\N	EFO	5	EFO	disease	Liver Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	3180282	\N	\N	EFO	5	EFO	disease	Liver Diffuse Large B-Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	5181186	\N	\N	EFO	7	EFO	disposition	Liver Diffuse Large B-Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	5996685	\N	\N	EFO	8	EFO	material property	Liver Diffuse Large B-Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000323	"A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." []	6550398	\N	\N	EFO	9	EFO	experimental factor	Liver Diffuse Large B-Cell Lymphoma
EFO:1000324	\N	\N	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	69923	\N	\N	EFO	0	EFO	Liver Inflammatory Myofibroblastic Tumor	Liver Inflammatory Myofibroblastic Tumor
EFO:1001513	EFO:1000324	\N	"Tumors or cancers of the LIVER." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	212212	\N	\N	EFO	1	EFO	liver neoplasm	Liver Inflammatory Myofibroblastic Tumor
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	565694	\N	\N	EFO	2	EFO	liver disease	Liver Inflammatory Myofibroblastic Tumor
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	565695	\N	\N	EFO	2	EFO	endocrine neoplasm	Liver Inflammatory Myofibroblastic Tumor
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	1146962	\N	\N	EFO	3	EFO	digestive system disease	Liver Inflammatory Myofibroblastic Tumor
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	1146963	\N	\N	EFO	3	EFO	endocrine system disease	Liver Inflammatory Myofibroblastic Tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	1146964	\N	\N	EFO	3	EFO	neoplasm	Liver Inflammatory Myofibroblastic Tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	1146965	\N	\N	EFO	3	EFO	endocrine system disease	Liver Inflammatory Myofibroblastic Tumor
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	2029323	\N	\N	EFO	4	EFO	disease	Liver Inflammatory Myofibroblastic Tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	2029324	\N	\N	EFO	4	EFO	disease	Liver Inflammatory Myofibroblastic Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	2029325	\N	\N	EFO	4	EFO	disease	Liver Inflammatory Myofibroblastic Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	3180283	\N	\N	EFO	5	EFO	disposition	Liver Inflammatory Myofibroblastic Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	4389101	\N	\N	EFO	6	EFO	material property	Liver Inflammatory Myofibroblastic Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000324	"A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	5409129	\N	\N	EFO	7	EFO	experimental factor	Liver Inflammatory Myofibroblastic Tumor
EFO:1000325	\N	\N	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	69924	\N	\N	EFO	0	EFO	Liver Neuroendocrine Tumor	Liver Neuroendocrine Tumor
EFO:1001513	EFO:1000325	\N	"Tumors or cancers of the LIVER." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	212213	\N	\N	EFO	1	EFO	liver neoplasm	Liver Neuroendocrine Tumor
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	565696	\N	\N	EFO	2	EFO	liver disease	Liver Neuroendocrine Tumor
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	565697	\N	\N	EFO	2	EFO	endocrine neoplasm	Liver Neuroendocrine Tumor
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	1146966	\N	\N	EFO	3	EFO	digestive system disease	Liver Neuroendocrine Tumor
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	1146967	\N	\N	EFO	3	EFO	endocrine system disease	Liver Neuroendocrine Tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	1146968	\N	\N	EFO	3	EFO	neoplasm	Liver Neuroendocrine Tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	1146969	\N	\N	EFO	3	EFO	endocrine system disease	Liver Neuroendocrine Tumor
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	2029326	\N	\N	EFO	4	EFO	disease	Liver Neuroendocrine Tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	2029327	\N	\N	EFO	4	EFO	disease	Liver Neuroendocrine Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	2029328	\N	\N	EFO	4	EFO	disease	Liver Neuroendocrine Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	3180284	\N	\N	EFO	5	EFO	disposition	Liver Neuroendocrine Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	4389102	\N	\N	EFO	6	EFO	material property	Liver Neuroendocrine Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000325	"An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites." []	5409130	\N	\N	EFO	7	EFO	experimental factor	Liver Neuroendocrine Tumor
EFO:1000326	\N	\N	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	69925	\N	\N	EFO	0	EFO	Lobular Breast Carcinoma In Situ	Lobular Breast Carcinoma In Situ
EFO:0000304	EFO:1000326	\N	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	212214	\N	\N	EFO	1	EFO	breast adenocarcinoma	Lobular Breast Carcinoma In Situ
EFO:0000228	EFO:0000304	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	565698	\N	\N	EFO	2	EFO	adenocarcinoma	Lobular Breast Carcinoma In Situ
EFO:0000305	EFO:0000304	\N	"Tumors or cancer of the human BREAST." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	565699	\N	\N	EFO	2	EFO	breast carcinoma	Lobular Breast Carcinoma In Situ
EFO:0003869	EFO:0000304	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	565700	\N	\N	EFO	2	EFO	breast neoplasm	Lobular Breast Carcinoma In Situ
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	1146970	\N	\N	EFO	3	EFO	carcinoma	Lobular Breast Carcinoma In Situ
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	1146971	\N	\N	EFO	3	EFO	carcinoma	Lobular Breast Carcinoma In Situ
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	1146972	\N	\N	EFO	3	EFO	neoplasm	Lobular Breast Carcinoma In Situ
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	2029329	\N	\N	EFO	4	EFO	cancer	Lobular Breast Carcinoma In Situ
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	2029330	\N	\N	EFO	4	EFO	epithelial neoplasm	Lobular Breast Carcinoma In Situ
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	4389103	\N	\N	EFO	6	EFO	disease	Lobular Breast Carcinoma In Situ
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	3180285	\N	\N	EFO	5	EFO	neoplasm	Lobular Breast Carcinoma In Situ
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	3180286	\N	\N	EFO	5	EFO	neoplasm	Lobular Breast Carcinoma In Situ
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	5059437	\N	\N	EFO	7	EFO	disposition	Lobular Breast Carcinoma In Situ
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	5876602	\N	\N	EFO	8	EFO	material property	Lobular Breast Carcinoma In Situ
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000326	"A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." []	6469848	\N	\N	EFO	9	EFO	experimental factor	Lobular Breast Carcinoma In Situ
EFO:1000327	\N	\N	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	69926	\N	\N	EFO	0	EFO	Low Grade Central Osteosarcoma	Low Grade Central Osteosarcoma
EFO:0000637	EFO:1000327	\N	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	212215	\N	\N	EFO	1	EFO	osteosarcoma	Low Grade Central Osteosarcoma
EFO:0000691	EFO:0000637	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	565701	\N	\N	EFO	2	EFO	sarcoma	Low Grade Central Osteosarcoma
EFO:0003820	EFO:0000637	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	565702	\N	\N	EFO	2	EFO	bone neoplasm	Low Grade Central Osteosarcoma
EFO:0004260	EFO:0000637	\N	"Diseases of BONES." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	565703	\N	\N	EFO	2	EFO	bone disease	Low Grade Central Osteosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	1146973	\N	\N	EFO	3	EFO	cancer	Low Grade Central Osteosarcoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	1146974	\N	\N	EFO	3	EFO	neoplasm	Low Grade Central Osteosarcoma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	1146975	\N	\N	EFO	3	EFO	skeletal system disease	Low Grade Central Osteosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	2029332	\N	\N	EFO	4	EFO	neoplasm	Low Grade Central Osteosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	3180288	\N	\N	EFO	5	EFO	disease	Low Grade Central Osteosarcoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	2029334	\N	\N	EFO	4	EFO	disease	Low Grade Central Osteosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	4132920	\N	\N	EFO	6	EFO	disposition	Low Grade Central Osteosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	5181187	\N	\N	EFO	7	EFO	material property	Low Grade Central Osteosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000327	"A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." []	5996686	\N	\N	EFO	8	EFO	experimental factor	Low Grade Central Osteosarcoma
EFO:1000328	\N	\N	"A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." []	EFO:1000328	"A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." []	69927	\N	\N	EFO	0	EFO	Low Grade Fibromyxoid Sarcoma	Low Grade Fibromyxoid Sarcoma
EFO:0002087	EFO:1000328	\N	"" []	EFO:1000328	"A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." []	212216	\N	\N	EFO	1	EFO	fibrosarcoma	Low Grade Fibromyxoid Sarcoma
EFO:0000691	EFO:0002087	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000328	"A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." []	565704	\N	\N	EFO	2	EFO	sarcoma	Low Grade Fibromyxoid Sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000328	"A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." []	1146976	\N	\N	EFO	3	EFO	cancer	Low Grade Fibromyxoid Sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000328	"A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." []	2029335	\N	\N	EFO	4	EFO	neoplasm	Low Grade Fibromyxoid Sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000328	"A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." []	3180290	\N	\N	EFO	5	EFO	disease	Low Grade Fibromyxoid Sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000328	"A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." []	4389106	\N	\N	EFO	6	EFO	disposition	Low Grade Fibromyxoid Sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000328	"A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." []	5409133	\N	\N	EFO	7	EFO	material property	Low Grade Fibromyxoid Sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000328	"A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." []	6147580	\N	\N	EFO	8	EFO	experimental factor	Low Grade Fibromyxoid Sarcoma
EFO:1000329	\N	\N	"A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." []	EFO:1000329	"A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." []	69928	\N	\N	EFO	0	EFO	Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes	Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes
EFO:0002087	EFO:1000329	\N	"" []	EFO:1000329	"A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." []	212217	\N	\N	EFO	1	EFO	fibrosarcoma	Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes
EFO:0000691	EFO:0002087	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000329	"A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." []	565705	\N	\N	EFO	2	EFO	sarcoma	Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000329	"A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." []	1146977	\N	\N	EFO	3	EFO	cancer	Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000329	"A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." []	2029336	\N	\N	EFO	4	EFO	neoplasm	Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000329	"A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." []	3180291	\N	\N	EFO	5	EFO	disease	Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000329	"A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." []	4389107	\N	\N	EFO	6	EFO	disposition	Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000329	"A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." []	5409134	\N	\N	EFO	7	EFO	material property	Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000329	"A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." []	6147581	\N	\N	EFO	8	EFO	experimental factor	Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes
EFO:1000330	\N	\N	"Intraepithelial neoplasia that affects the vulvar epithelium and is characterized by the presence of mild dysplasia." []	EFO:1000330	"Intraepithelial neoplasia that affects the vulvar epithelium and is characterized by the presence of mild dysplasia." []	69929	\N	\N	EFO	0	EFO	Low Grade Vulvar Intraepithelial Neoplasia	Low Grade Vulvar Intraepithelial Neoplasia
EFO:0002627	EFO:1000330	\N	"High-grade intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar intraepithelial neoplasia, usual type and vulvar intraepithelial neoplasia, differentiated type." []	EFO:1000330	"Intraepithelial neoplasia that affects the vulvar epithelium and is characterized by the presence of mild dysplasia." []	212218	\N	\N	EFO	1	EFO	vulvar intraepithelial neoplasia	Low Grade Vulvar Intraepithelial Neoplasia
EFO:0000512	EFO:0002627	\N	"any diease of the reproductive system" []	EFO:1000330	"Intraepithelial neoplasia that affects the vulvar epithelium and is characterized by the presence of mild dysplasia." []	565706	\N	\N	EFO	2	EFO	reproductive system disease	Low Grade Vulvar Intraepithelial Neoplasia
EFO:0003863	EFO:0002627	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000330	"Intraepithelial neoplasia that affects the vulvar epithelium and is characterized by the presence of mild dysplasia." []	565707	\N	\N	EFO	2	EFO	urogenital neoplasm	Low Grade Vulvar Intraepithelial Neoplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000330	"Intraepithelial neoplasia that affects the vulvar epithelium and is characterized by the presence of mild dysplasia." []	1146978	\N	\N	EFO	3	EFO	disease	Low Grade Vulvar Intraepithelial Neoplasia
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000330	"Intraepithelial neoplasia that affects the vulvar epithelium and is characterized by the presence of mild dysplasia." []	1146979	\N	\N	EFO	3	EFO	neoplasm	Low Grade Vulvar Intraepithelial Neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000330	"Intraepithelial neoplasia that affects the vulvar epithelium and is characterized by the presence of mild dysplasia." []	3180293	\N	\N	EFO	5	EFO	disposition	Low Grade Vulvar Intraepithelial Neoplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000330	"Intraepithelial neoplasia that affects the vulvar epithelium and is characterized by the presence of mild dysplasia." []	2029338	\N	\N	EFO	4	EFO	disease	Low Grade Vulvar Intraepithelial Neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000330	"Intraepithelial neoplasia that affects the vulvar epithelium and is characterized by the presence of mild dysplasia." []	4132921	\N	\N	EFO	6	EFO	material property	Low Grade Vulvar Intraepithelial Neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000330	"Intraepithelial neoplasia that affects the vulvar epithelium and is characterized by the presence of mild dysplasia." []	5181188	\N	\N	EFO	7	EFO	experimental factor	Low Grade Vulvar Intraepithelial Neoplasia
EFO:1000332	\N	\N	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	69930	\N	\N	EFO	0	EFO	Lung Giant Cell Carcinoma	Lung Giant Cell Carcinoma
EFO:0003060	EFO:1000332	\N	"A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	212219	\N	\N	EFO	1	EFO	non-small cell lung carcinoma	Lung Giant Cell Carcinoma
EFO:0001071	EFO:0003060	\N	"Tumors or cancer of the LUNG." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	565708	\N	\N	EFO	2	EFO	lung carcinoma	Lung Giant Cell Carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	1146980	\N	\N	EFO	3	EFO	carcinoma	Lung Giant Cell Carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	1146981	\N	\N	EFO	3	EFO	lung disease	Lung Giant Cell Carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	1146982	\N	\N	EFO	3	EFO	respiratory system neoplasm	Lung Giant Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	2029339	\N	\N	EFO	4	EFO	cancer	Lung Giant Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	2029340	\N	\N	EFO	4	EFO	epithelial neoplasm	Lung Giant Cell Carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	2029341	\N	\N	EFO	4	EFO	respiratory system disease	Lung Giant Cell Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	2029342	\N	\N	EFO	4	EFO	neoplasm	Lung Giant Cell Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	2029343	\N	\N	EFO	4	EFO	respiratory system disease	Lung Giant Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	3180294	\N	\N	EFO	5	EFO	neoplasm	Lung Giant Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	3180295	\N	\N	EFO	5	EFO	neoplasm	Lung Giant Cell Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	3180296	\N	\N	EFO	5	EFO	disease	Lung Giant Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	4389109	\N	\N	EFO	6	EFO	disease	Lung Giant Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	5181189	\N	\N	EFO	7	EFO	disposition	Lung Giant Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	5996687	\N	\N	EFO	8	EFO	material property	Lung Giant Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000332	"A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." []	6550399	\N	\N	EFO	9	EFO	experimental factor	Lung Giant Cell Carcinoma
EFO:1000333	\N	\N	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	69931	\N	\N	EFO	0	EFO	Lung Inflammatory Myofibroblastic Tumor	Lung Inflammatory Myofibroblastic Tumor
EFO:0001071	EFO:1000333	\N	"Tumors or cancer of the LUNG." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	212220	\N	\N	EFO	1	EFO	lung carcinoma	Lung Inflammatory Myofibroblastic Tumor
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	565709	\N	\N	EFO	2	EFO	carcinoma	Lung Inflammatory Myofibroblastic Tumor
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	565710	\N	\N	EFO	2	EFO	lung disease	Lung Inflammatory Myofibroblastic Tumor
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	565711	\N	\N	EFO	2	EFO	respiratory system neoplasm	Lung Inflammatory Myofibroblastic Tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	1146983	\N	\N	EFO	3	EFO	cancer	Lung Inflammatory Myofibroblastic Tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	1146984	\N	\N	EFO	3	EFO	epithelial neoplasm	Lung Inflammatory Myofibroblastic Tumor
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	1146985	\N	\N	EFO	3	EFO	respiratory system disease	Lung Inflammatory Myofibroblastic Tumor
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	1146986	\N	\N	EFO	3	EFO	neoplasm	Lung Inflammatory Myofibroblastic Tumor
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	1146987	\N	\N	EFO	3	EFO	respiratory system disease	Lung Inflammatory Myofibroblastic Tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	2029344	\N	\N	EFO	4	EFO	neoplasm	Lung Inflammatory Myofibroblastic Tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	2029345	\N	\N	EFO	4	EFO	neoplasm	Lung Inflammatory Myofibroblastic Tumor
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	2029346	\N	\N	EFO	4	EFO	disease	Lung Inflammatory Myofibroblastic Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	3180298	\N	\N	EFO	5	EFO	disease	Lung Inflammatory Myofibroblastic Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	4132922	\N	\N	EFO	6	EFO	disposition	Lung Inflammatory Myofibroblastic Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	5181190	\N	\N	EFO	7	EFO	material property	Lung Inflammatory Myofibroblastic Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000333	"An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	5996688	\N	\N	EFO	8	EFO	experimental factor	Lung Inflammatory Myofibroblastic Tumor
EFO:1000334	\N	\N	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	69932	\N	\N	EFO	0	EFO	Lung Lymphangioleiomyomatosis	Lung Lymphangioleiomyomatosis
EFO:0001071	EFO:1000334	\N	"Tumors or cancer of the LUNG." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	212221	\N	\N	EFO	1	EFO	lung carcinoma	Lung Lymphangioleiomyomatosis
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	565712	\N	\N	EFO	2	EFO	carcinoma	Lung Lymphangioleiomyomatosis
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	565713	\N	\N	EFO	2	EFO	lung disease	Lung Lymphangioleiomyomatosis
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	565714	\N	\N	EFO	2	EFO	respiratory system neoplasm	Lung Lymphangioleiomyomatosis
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	1146988	\N	\N	EFO	3	EFO	cancer	Lung Lymphangioleiomyomatosis
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	1146989	\N	\N	EFO	3	EFO	epithelial neoplasm	Lung Lymphangioleiomyomatosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	1146990	\N	\N	EFO	3	EFO	respiratory system disease	Lung Lymphangioleiomyomatosis
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	1146991	\N	\N	EFO	3	EFO	neoplasm	Lung Lymphangioleiomyomatosis
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	1146992	\N	\N	EFO	3	EFO	respiratory system disease	Lung Lymphangioleiomyomatosis
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	2029348	\N	\N	EFO	4	EFO	neoplasm	Lung Lymphangioleiomyomatosis
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	2029349	\N	\N	EFO	4	EFO	neoplasm	Lung Lymphangioleiomyomatosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	2029350	\N	\N	EFO	4	EFO	disease	Lung Lymphangioleiomyomatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	3180300	\N	\N	EFO	5	EFO	disease	Lung Lymphangioleiomyomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	4132923	\N	\N	EFO	6	EFO	disposition	Lung Lymphangioleiomyomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	5181191	\N	\N	EFO	7	EFO	material property	Lung Lymphangioleiomyomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000334	"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." []	5996689	\N	\N	EFO	8	EFO	experimental factor	Lung Lymphangioleiomyomatosis
EFO:1000335	\N	\N	"A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." []	EFO:1000335	"A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." []	69933	\N	\N	EFO	0	EFO	Lung Papilloma	Lung Papilloma
EFO:0003818	EFO:1000335	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000335	"A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." []	212222	\N	\N	EFO	1	EFO	lung disease	Lung Papilloma
EFO:0003853	EFO:1000335	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000335	"A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." []	212223	\N	\N	EFO	1	EFO	respiratory system neoplasm	Lung Papilloma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000335	"A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." []	565715	\N	\N	EFO	2	EFO	respiratory system disease	Lung Papilloma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000335	"A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." []	565716	\N	\N	EFO	2	EFO	neoplasm	Lung Papilloma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000335	"A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." []	565717	\N	\N	EFO	2	EFO	respiratory system disease	Lung Papilloma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000335	"A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." []	1146993	\N	\N	EFO	3	EFO	disease	Lung Papilloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000335	"A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." []	1146994	\N	\N	EFO	3	EFO	disease	Lung Papilloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000335	"A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." []	2029352	\N	\N	EFO	4	EFO	disposition	Lung Papilloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000335	"A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." []	3180302	\N	\N	EFO	5	EFO	material property	Lung Papilloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000335	"A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." []	4389113	\N	\N	EFO	6	EFO	experimental factor	Lung Papilloma
EFO:1000336	\N	\N	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	69934	\N	\N	EFO	0	EFO	Lung Sarcomatoid Carcinoma	Lung Sarcomatoid Carcinoma
EFO:0003050	EFO:1000336	\N	"A malignant epithelial neoplasm composed of large, atypical cells." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	212224	\N	\N	EFO	1	EFO	large cell lung carcinoma	Lung Sarcomatoid Carcinoma
EFO:0001071	EFO:0003050	\N	"Tumors or cancer of the LUNG." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	565718	\N	\N	EFO	2	EFO	lung carcinoma	Lung Sarcomatoid Carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	1146995	\N	\N	EFO	3	EFO	carcinoma	Lung Sarcomatoid Carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	1146996	\N	\N	EFO	3	EFO	lung disease	Lung Sarcomatoid Carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	1146997	\N	\N	EFO	3	EFO	respiratory system neoplasm	Lung Sarcomatoid Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	2029353	\N	\N	EFO	4	EFO	cancer	Lung Sarcomatoid Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	2029354	\N	\N	EFO	4	EFO	epithelial neoplasm	Lung Sarcomatoid Carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	2029355	\N	\N	EFO	4	EFO	respiratory system disease	Lung Sarcomatoid Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	2029356	\N	\N	EFO	4	EFO	neoplasm	Lung Sarcomatoid Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	2029357	\N	\N	EFO	4	EFO	respiratory system disease	Lung Sarcomatoid Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	3180303	\N	\N	EFO	5	EFO	neoplasm	Lung Sarcomatoid Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	3180304	\N	\N	EFO	5	EFO	neoplasm	Lung Sarcomatoid Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	3180305	\N	\N	EFO	5	EFO	disease	Lung Sarcomatoid Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	4389114	\N	\N	EFO	6	EFO	disease	Lung Sarcomatoid Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	5181192	\N	\N	EFO	7	EFO	disposition	Lung Sarcomatoid Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	5996690	\N	\N	EFO	8	EFO	material property	Lung Sarcomatoid Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000336	"A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." []	6550400	\N	\N	EFO	9	EFO	experimental factor	Lung Sarcomatoid Carcinoma
EFO:1000337	\N	\N	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	69935	\N	\N	EFO	0	EFO	Lung Sclerosing Hemangioma	Lung Sclerosing Hemangioma
EFO:0001071	EFO:1000337	\N	"Tumors or cancer of the LUNG." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	212225	\N	\N	EFO	1	EFO	lung carcinoma	Lung Sclerosing Hemangioma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	565719	\N	\N	EFO	2	EFO	carcinoma	Lung Sclerosing Hemangioma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	565720	\N	\N	EFO	2	EFO	lung disease	Lung Sclerosing Hemangioma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	565721	\N	\N	EFO	2	EFO	respiratory system neoplasm	Lung Sclerosing Hemangioma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	1146998	\N	\N	EFO	3	EFO	cancer	Lung Sclerosing Hemangioma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	1146999	\N	\N	EFO	3	EFO	epithelial neoplasm	Lung Sclerosing Hemangioma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	1147000	\N	\N	EFO	3	EFO	respiratory system disease	Lung Sclerosing Hemangioma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	1147001	\N	\N	EFO	3	EFO	neoplasm	Lung Sclerosing Hemangioma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	1147002	\N	\N	EFO	3	EFO	respiratory system disease	Lung Sclerosing Hemangioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	2029358	\N	\N	EFO	4	EFO	neoplasm	Lung Sclerosing Hemangioma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	2029359	\N	\N	EFO	4	EFO	neoplasm	Lung Sclerosing Hemangioma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	2029360	\N	\N	EFO	4	EFO	disease	Lung Sclerosing Hemangioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	3180307	\N	\N	EFO	5	EFO	disease	Lung Sclerosing Hemangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	4132924	\N	\N	EFO	6	EFO	disposition	Lung Sclerosing Hemangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	5181193	\N	\N	EFO	7	EFO	material property	Lung Sclerosing Hemangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000337	"A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." []	5996691	\N	\N	EFO	8	EFO	experimental factor	Lung Sclerosing Hemangioma
EFO:1000338	\N	\N	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	69936	\N	\N	EFO	0	EFO	Lung Signet Ring Cell Carcinoma	Lung Signet Ring Cell Carcinoma
EFO:0000571	EFO:1000338	\N	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	212226	\N	\N	EFO	1	EFO	lung adenocarcinoma	Lung Signet Ring Cell Carcinoma
EFO:0000698	EFO:1000338	\N	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	212227	\N	\N	EFO	1	EFO	signet ring cell carcinoma	Lung Signet Ring Cell Carcinoma
EFO:0001071	EFO:0000571	\N	"Tumors or cancer of the LUNG." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	565722	\N	\N	EFO	2	EFO	lung carcinoma	Lung Signet Ring Cell Carcinoma
EFO:0000313	EFO:0000698	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	565723	\N	\N	EFO	2	EFO	carcinoma	Lung Signet Ring Cell Carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	1147003	\N	\N	EFO	3	EFO	carcinoma	Lung Signet Ring Cell Carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	1147004	\N	\N	EFO	3	EFO	lung disease	Lung Signet Ring Cell Carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	1147005	\N	\N	EFO	3	EFO	respiratory system neoplasm	Lung Signet Ring Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	2029362	\N	\N	EFO	4	EFO	cancer	Lung Signet Ring Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	2029363	\N	\N	EFO	4	EFO	epithelial neoplasm	Lung Signet Ring Cell Carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	2029364	\N	\N	EFO	4	EFO	respiratory system disease	Lung Signet Ring Cell Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	2029365	\N	\N	EFO	4	EFO	neoplasm	Lung Signet Ring Cell Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	2029366	\N	\N	EFO	4	EFO	respiratory system disease	Lung Signet Ring Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	2999975	\N	\N	EFO	5	EFO	neoplasm	Lung Signet Ring Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	2999976	\N	\N	EFO	5	EFO	neoplasm	Lung Signet Ring Cell Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	3180309	\N	\N	EFO	5	EFO	disease	Lung Signet Ring Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	4132925	\N	\N	EFO	6	EFO	disease	Lung Signet Ring Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	5181194	\N	\N	EFO	7	EFO	disposition	Lung Signet Ring Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	5996692	\N	\N	EFO	8	EFO	material property	Lung Signet Ring Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000338	"A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." []	6550401	\N	\N	EFO	9	EFO	experimental factor	Lung Signet Ring Cell Carcinoma
EFO:1000339	\N	\N	"A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." []	EFO:1000339	"A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." []	69937	\N	\N	EFO	0	EFO	Lymphangiosarcoma	Lymphangiosarcoma
EFO:0000319	EFO:1000339	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000339	"A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." []	212228	\N	\N	EFO	1	EFO	cardiovascular disease	Lymphangiosarcoma
EFO:0000691	EFO:1000339	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000339	"A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." []	212229	\N	\N	EFO	1	EFO	sarcoma	Lymphangiosarcoma
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000339	"A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." []	565724	\N	\N	EFO	2	EFO	disease	Lymphangiosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000339	"A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." []	565725	\N	\N	EFO	2	EFO	cancer	Lymphangiosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000339	"A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." []	3180312	\N	\N	EFO	5	EFO	disposition	Lymphangiosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000339	"A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." []	1147009	\N	\N	EFO	3	EFO	neoplasm	Lymphangiosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000339	"A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." []	4066763	\N	\N	EFO	6	EFO	material property	Lymphangiosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000339	"A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." []	2029370	\N	\N	EFO	4	EFO	disease	Lymphangiosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000339	"A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." []	5059438	\N	\N	EFO	7	EFO	experimental factor	Lymphangiosarcoma
EFO:1000340	\N	\N	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	69938	\N	\N	EFO	0	EFO	Lymphoepithelioma-Like Lung Carcinoma	Lymphoepithelioma-Like Lung Carcinoma
EFO:0003050	EFO:1000340	\N	"A malignant epithelial neoplasm composed of large, atypical cells." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	212230	\N	\N	EFO	1	EFO	large cell lung carcinoma	Lymphoepithelioma-Like Lung Carcinoma
EFO:0001071	EFO:0003050	\N	"Tumors or cancer of the LUNG." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	565726	\N	\N	EFO	2	EFO	lung carcinoma	Lymphoepithelioma-Like Lung Carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	1147010	\N	\N	EFO	3	EFO	carcinoma	Lymphoepithelioma-Like Lung Carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	1147011	\N	\N	EFO	3	EFO	lung disease	Lymphoepithelioma-Like Lung Carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	1147012	\N	\N	EFO	3	EFO	respiratory system neoplasm	Lymphoepithelioma-Like Lung Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	2029371	\N	\N	EFO	4	EFO	cancer	Lymphoepithelioma-Like Lung Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	2029372	\N	\N	EFO	4	EFO	epithelial neoplasm	Lymphoepithelioma-Like Lung Carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	2029373	\N	\N	EFO	4	EFO	respiratory system disease	Lymphoepithelioma-Like Lung Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	2029374	\N	\N	EFO	4	EFO	neoplasm	Lymphoepithelioma-Like Lung Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	2029375	\N	\N	EFO	4	EFO	respiratory system disease	Lymphoepithelioma-Like Lung Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	3180313	\N	\N	EFO	5	EFO	neoplasm	Lymphoepithelioma-Like Lung Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	3180314	\N	\N	EFO	5	EFO	neoplasm	Lymphoepithelioma-Like Lung Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	3180315	\N	\N	EFO	5	EFO	disease	Lymphoepithelioma-Like Lung Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	4389118	\N	\N	EFO	6	EFO	disease	Lymphoepithelioma-Like Lung Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	5181195	\N	\N	EFO	7	EFO	disposition	Lymphoepithelioma-Like Lung Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	5996693	\N	\N	EFO	8	EFO	material property	Lymphoepithelioma-Like Lung Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000340	"A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." []	6550402	\N	\N	EFO	9	EFO	experimental factor	Lymphoepithelioma-Like Lung Carcinoma
EFO:1000341	\N	\N	"A chronic, recurrent cutaneous disorder characterized by the presence of spontaneously regressing papules. The papules are composed of an atypical lymphocytic infiltrate that contains anaplastic CD30-positive T-cells, which are found in type A and diffuse large cell type (type C) lymphomatoid papulosis. In a small number of cases, of type B, the lymphocytic infiltrate is composed of small, cerebriform-like lymphocytes that are often negative for CD30. The majority of cases follow a benign clinical course, but some cases are clonal and may progress to lymphoma. Treatment options include low dose methotrexate and psoralen/UVA (PUVA)." []	EFO:1000341	"A chronic, recurrent cutaneous disorder characterized by the presence of spontaneously regressing papules. The papules are composed of an atypical lymphocytic infiltrate that contains anaplastic CD30-positive T-cells, which are found in type A and diffuse large cell type (type C) lymphomatoid papulosis. In a small number of cases, of type B, the lymphocytic infiltrate is composed of small, cerebriform-like lymphocytes that are often negative for CD30. The majority of cases follow a benign clinical course, but some cases are clonal and may progress to lymphoma. Treatment options include low dose methotrexate and psoralen/UVA (PUVA)." []	69939	\N	\N	EFO	0	EFO	Lymphomatoid Papulosis	Lymphomatoid Papulosis
EFO:0004198	EFO:1000341	\N	"Tumors or cancer of the SKIN." []	EFO:1000341	"A chronic, recurrent cutaneous disorder characterized by the presence of spontaneously regressing papules. The papules are composed of an atypical lymphocytic infiltrate that contains anaplastic CD30-positive T-cells, which are found in type A and diffuse large cell type (type C) lymphomatoid papulosis. In a small number of cases, of type B, the lymphocytic infiltrate is composed of small, cerebriform-like lymphocytes that are often negative for CD30. The majority of cases follow a benign clinical course, but some cases are clonal and may progress to lymphoma. Treatment options include low dose methotrexate and psoralen/UVA (PUVA)." []	212231	\N	\N	EFO	1	EFO	skin neoplasm	Lymphomatoid Papulosis
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000341	"A chronic, recurrent cutaneous disorder characterized by the presence of spontaneously regressing papules. The papules are composed of an atypical lymphocytic infiltrate that contains anaplastic CD30-positive T-cells, which are found in type A and diffuse large cell type (type C) lymphomatoid papulosis. In a small number of cases, of type B, the lymphocytic infiltrate is composed of small, cerebriform-like lymphocytes that are often negative for CD30. The majority of cases follow a benign clinical course, but some cases are clonal and may progress to lymphoma. Treatment options include low dose methotrexate and psoralen/UVA (PUVA)." []	565727	\N	\N	EFO	2	EFO	neoplasm	Lymphomatoid Papulosis
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000341	"A chronic, recurrent cutaneous disorder characterized by the presence of spontaneously regressing papules. The papules are composed of an atypical lymphocytic infiltrate that contains anaplastic CD30-positive T-cells, which are found in type A and diffuse large cell type (type C) lymphomatoid papulosis. In a small number of cases, of type B, the lymphocytic infiltrate is composed of small, cerebriform-like lymphocytes that are often negative for CD30. The majority of cases follow a benign clinical course, but some cases are clonal and may progress to lymphoma. Treatment options include low dose methotrexate and psoralen/UVA (PUVA)." []	565728	\N	\N	EFO	2	EFO	skin disease	Lymphomatoid Papulosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000341	"A chronic, recurrent cutaneous disorder characterized by the presence of spontaneously regressing papules. The papules are composed of an atypical lymphocytic infiltrate that contains anaplastic CD30-positive T-cells, which are found in type A and diffuse large cell type (type C) lymphomatoid papulosis. In a small number of cases, of type B, the lymphocytic infiltrate is composed of small, cerebriform-like lymphocytes that are often negative for CD30. The majority of cases follow a benign clinical course, but some cases are clonal and may progress to lymphoma. Treatment options include low dose methotrexate and psoralen/UVA (PUVA)." []	1147013	\N	\N	EFO	3	EFO	disease	Lymphomatoid Papulosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000341	"A chronic, recurrent cutaneous disorder characterized by the presence of spontaneously regressing papules. The papules are composed of an atypical lymphocytic infiltrate that contains anaplastic CD30-positive T-cells, which are found in type A and diffuse large cell type (type C) lymphomatoid papulosis. In a small number of cases, of type B, the lymphocytic infiltrate is composed of small, cerebriform-like lymphocytes that are often negative for CD30. The majority of cases follow a benign clinical course, but some cases are clonal and may progress to lymphoma. Treatment options include low dose methotrexate and psoralen/UVA (PUVA)." []	1147014	\N	\N	EFO	3	EFO	disease	Lymphomatoid Papulosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000341	"A chronic, recurrent cutaneous disorder characterized by the presence of spontaneously regressing papules. The papules are composed of an atypical lymphocytic infiltrate that contains anaplastic CD30-positive T-cells, which are found in type A and diffuse large cell type (type C) lymphomatoid papulosis. In a small number of cases, of type B, the lymphocytic infiltrate is composed of small, cerebriform-like lymphocytes that are often negative for CD30. The majority of cases follow a benign clinical course, but some cases are clonal and may progress to lymphoma. Treatment options include low dose methotrexate and psoralen/UVA (PUVA)." []	2029376	\N	\N	EFO	4	EFO	disposition	Lymphomatoid Papulosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000341	"A chronic, recurrent cutaneous disorder characterized by the presence of spontaneously regressing papules. The papules are composed of an atypical lymphocytic infiltrate that contains anaplastic CD30-positive T-cells, which are found in type A and diffuse large cell type (type C) lymphomatoid papulosis. In a small number of cases, of type B, the lymphocytic infiltrate is composed of small, cerebriform-like lymphocytes that are often negative for CD30. The majority of cases follow a benign clinical course, but some cases are clonal and may progress to lymphoma. Treatment options include low dose methotrexate and psoralen/UVA (PUVA)." []	3180317	\N	\N	EFO	5	EFO	material property	Lymphomatoid Papulosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000341	"A chronic, recurrent cutaneous disorder characterized by the presence of spontaneously regressing papules. The papules are composed of an atypical lymphocytic infiltrate that contains anaplastic CD30-positive T-cells, which are found in type A and diffuse large cell type (type C) lymphomatoid papulosis. In a small number of cases, of type B, the lymphocytic infiltrate is composed of small, cerebriform-like lymphocytes that are often negative for CD30. The majority of cases follow a benign clinical course, but some cases are clonal and may progress to lymphoma. Treatment options include low dose methotrexate and psoralen/UVA (PUVA)." []	4389120	\N	\N	EFO	6	EFO	experimental factor	Lymphomatoid Papulosis
EFO:1000342	\N	\N	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	69940	\N	\N	EFO	0	EFO	Lymphoplasmacyte-Rich Meningioma	Lymphoplasmacyte-Rich Meningioma
Orphanet:2495	EFO:1000342	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	212232	\N	\N	EFO	1	EFO	Meningioma	Lymphoplasmacyte-Rich Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	565729	\N	\N	EFO	2	EFO	endocrine neoplasm	Lymphoplasmacyte-Rich Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	565730	\N	\N	EFO	2	EFO	meningeal neoplasm	Lymphoplasmacyte-Rich Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	1147015	\N	\N	EFO	3	EFO	neoplasm	Lymphoplasmacyte-Rich Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	1147016	\N	\N	EFO	3	EFO	endocrine system disease	Lymphoplasmacyte-Rich Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	1147017	\N	\N	EFO	3	EFO	brain neoplasm	Lymphoplasmacyte-Rich Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	3180319	\N	\N	EFO	5	EFO	disease	Lymphoplasmacyte-Rich Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	2029378	\N	\N	EFO	4	EFO	disease	Lymphoplasmacyte-Rich Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	2029379	\N	\N	EFO	4	EFO	neoplasm	Lymphoplasmacyte-Rich Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	2029380	\N	\N	EFO	4	EFO	brain disease	Lymphoplasmacyte-Rich Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	5409143	\N	\N	EFO	7	EFO	disposition	Lymphoplasmacyte-Rich Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	3180320	\N	\N	EFO	5	EFO	nervous system disease	Lymphoplasmacyte-Rich Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	5876603	\N	\N	EFO	8	EFO	material property	Lymphoplasmacyte-Rich Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	4389122	\N	\N	EFO	6	EFO	disease	Lymphoplasmacyte-Rich Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000342	"A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." []	6469849	\N	\N	EFO	9	EFO	experimental factor	Lymphoplasmacyte-Rich Meningioma
EFO:1000343	\N	\N	"" []	EFO:1000343	"" []	69941	\N	\N	EFO	0	EFO	lympoid tissue	lympoid tissue
EFO:0000324	EFO:1000343	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:1000343	"" []	212233	\N	\N	EFO	1	EFO	cell type	lympoid tissue
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:1000343	"" []	565731	\N	\N	EFO	2	EFO	material entity	lympoid tissue
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000343	"" []	1147018	\N	\N	EFO	3	EFO	experimental factor	lympoid tissue
EFO:1000344	\N	\N	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	69942	\N	\N	EFO	0	EFO	Major Salivary Gland Carcinoma	Major Salivary Gland Carcinoma
EFO:0000313	EFO:1000344	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	212234	\N	\N	EFO	1	EFO	carcinoma	Major Salivary Gland Carcinoma
EFO:0003826	EFO:1000344	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	212235	\N	\N	EFO	1	EFO	salivary gland neoplasm	Major Salivary Gland Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	565732	\N	\N	EFO	2	EFO	cancer	Major Salivary Gland Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	565733	\N	\N	EFO	2	EFO	epithelial neoplasm	Major Salivary Gland Carcinoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	565734	\N	\N	EFO	2	EFO	digestive system disease	Major Salivary Gland Carcinoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	565735	\N	\N	EFO	2	EFO	head and neck neoplasia	Major Salivary Gland Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	1147019	\N	\N	EFO	3	EFO	neoplasm	Major Salivary Gland Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	1147020	\N	\N	EFO	3	EFO	neoplasm	Major Salivary Gland Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	1147021	\N	\N	EFO	3	EFO	disease	Major Salivary Gland Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	1147022	\N	\N	EFO	3	EFO	head disease	Major Salivary Gland Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	1147023	\N	\N	EFO	3	EFO	neoplasm	Major Salivary Gland Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	2029381	\N	\N	EFO	4	EFO	disease	Major Salivary Gland Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	3180321	\N	\N	EFO	5	EFO	disposition	Major Salivary Gland Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	2029383	\N	\N	EFO	4	EFO	disease	Major Salivary Gland Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	4132927	\N	\N	EFO	6	EFO	material property	Major Salivary Gland Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000344	"A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." []	5181197	\N	\N	EFO	7	EFO	experimental factor	Major Salivary Gland Carcinoma
EFO:1000345	\N	\N	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	69943	\N	\N	EFO	0	EFO	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000313	EFO:1000345	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	212236	\N	\N	EFO	1	EFO	carcinoma	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0003826	EFO:1000345	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	212237	\N	\N	EFO	1	EFO	salivary gland neoplasm	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	565736	\N	\N	EFO	2	EFO	cancer	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	565737	\N	\N	EFO	2	EFO	epithelial neoplasm	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	565738	\N	\N	EFO	2	EFO	digestive system disease	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	565739	\N	\N	EFO	2	EFO	head and neck neoplasia	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147024	\N	\N	EFO	3	EFO	neoplasm	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147025	\N	\N	EFO	3	EFO	neoplasm	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147026	\N	\N	EFO	3	EFO	disease	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147027	\N	\N	EFO	3	EFO	head disease	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147028	\N	\N	EFO	3	EFO	neoplasm	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	2029384	\N	\N	EFO	4	EFO	disease	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	3180323	\N	\N	EFO	5	EFO	disposition	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	2029386	\N	\N	EFO	4	EFO	disease	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	4132928	\N	\N	EFO	6	EFO	material property	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000345	"A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	5181198	\N	\N	EFO	7	EFO	experimental factor	Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:1000346	\N	\N	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	69944	\N	\N	EFO	0	EFO	Major Salivary Gland Mucoepidermoid Carcinoma	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0000313	EFO:1000346	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	212238	\N	\N	EFO	1	EFO	carcinoma	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0003826	EFO:1000346	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	212239	\N	\N	EFO	1	EFO	salivary gland neoplasm	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	565740	\N	\N	EFO	2	EFO	cancer	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	565741	\N	\N	EFO	2	EFO	epithelial neoplasm	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	565742	\N	\N	EFO	2	EFO	digestive system disease	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	565743	\N	\N	EFO	2	EFO	head and neck neoplasia	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	1147029	\N	\N	EFO	3	EFO	neoplasm	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	1147030	\N	\N	EFO	3	EFO	neoplasm	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	1147031	\N	\N	EFO	3	EFO	disease	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	1147032	\N	\N	EFO	3	EFO	head disease	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	1147033	\N	\N	EFO	3	EFO	neoplasm	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	2029387	\N	\N	EFO	4	EFO	disease	Major Salivary Gland Mucoepidermoid Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	3180325	\N	\N	EFO	5	EFO	disposition	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	2029389	\N	\N	EFO	4	EFO	disease	Major Salivary Gland Mucoepidermoid Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	4132929	\N	\N	EFO	6	EFO	material property	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000346	"A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." []	5181199	\N	\N	EFO	7	EFO	experimental factor	Major Salivary Gland Mucoepidermoid Carcinoma
EFO:1000347	\N	\N	"A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." []	EFO:1000347	"A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." []	69945	\N	\N	EFO	0	EFO	Malignancy in Giant Cell Tumor of Bone	Malignancy in Giant Cell Tumor of Bone
EFO:0000691	EFO:1000347	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000347	"A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." []	212240	\N	\N	EFO	1	EFO	sarcoma	Malignancy in Giant Cell Tumor of Bone
EFO:0003820	EFO:1000347	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1000347	"A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." []	212241	\N	\N	EFO	1	EFO	bone neoplasm	Malignancy in Giant Cell Tumor of Bone
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000347	"A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." []	565744	\N	\N	EFO	2	EFO	cancer	Malignancy in Giant Cell Tumor of Bone
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000347	"A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." []	565745	\N	\N	EFO	2	EFO	neoplasm	Malignancy in Giant Cell Tumor of Bone
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000347	"A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." []	1147034	\N	\N	EFO	3	EFO	neoplasm	Malignancy in Giant Cell Tumor of Bone
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000347	"A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." []	2029390	\N	\N	EFO	4	EFO	disease	Malignancy in Giant Cell Tumor of Bone
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000347	"A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." []	2999977	\N	\N	EFO	5	EFO	disposition	Malignancy in Giant Cell Tumor of Bone
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000347	"A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." []	4132930	\N	\N	EFO	6	EFO	material property	Malignancy in Giant Cell Tumor of Bone
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000347	"A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." []	5181200	\N	\N	EFO	7	EFO	experimental factor	Malignancy in Giant Cell Tumor of Bone
EFO:1000348	\N	\N	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	EFO:1000348	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	69946	\N	\N	EFO	0	EFO	Malignant Adrenal Gland Pheochromocytoma	Malignant Adrenal Gland Pheochromocytoma
EFO:0000239	EFO:1000348	\N	"A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines.  It arises from the chromaffin cells of the adrenal medulla.  Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor.  Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen.  Other growth patterns including trabecular pattern may also be present." []	EFO:1000348	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	212242	\N	\N	EFO	1	EFO	adrenal gland pheochromocytoma	Malignant Adrenal Gland Pheochromocytoma
EFO:0003769	EFO:1000348	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000348	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	212243	\N	\N	EFO	1	EFO	endocrine neoplasm	Malignant Adrenal Gland Pheochromocytoma
EFO:0003850	EFO:0000239	\N	"Tumors or cancer of the ADRENAL GLANDS." []	EFO:1000348	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	565746	\N	\N	EFO	2	EFO	adrenal gland neoplasm	Malignant Adrenal Gland Pheochromocytoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000348	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	565747	\N	\N	EFO	2	EFO	neoplasm	Malignant Adrenal Gland Pheochromocytoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000348	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	565748	\N	\N	EFO	2	EFO	endocrine system disease	Malignant Adrenal Gland Pheochromocytoma
EFO:0000616	EFO:0003850	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000348	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	1147036	\N	\N	EFO	3	EFO	neoplasm	Malignant Adrenal Gland Pheochromocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000348	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	2029392	\N	\N	EFO	4	EFO	disease	Malignant Adrenal Gland Pheochromocytoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000348	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	1147038	\N	\N	EFO	3	EFO	disease	Malignant Adrenal Gland Pheochromocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000348	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	2999978	\N	\N	EFO	5	EFO	disposition	Malignant Adrenal Gland Pheochromocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000348	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	4132931	\N	\N	EFO	6	EFO	material property	Malignant Adrenal Gland Pheochromocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000348	"A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." []	5181201	\N	\N	EFO	7	EFO	experimental factor	Malignant Adrenal Gland Pheochromocytoma
EFO:1000349	\N	\N	"An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." []	EFO:1000349	"An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." []	69947	\N	\N	EFO	0	EFO	Malignant Bladder Paraganglioma	Malignant Bladder Paraganglioma
EFO:0000489	EFO:1000349	\N	"A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland.  Clinical symptoms are related to secretion of catecholamines.  Representative examples include the superior and inferior paraaortic and bladder paragangliomas." []	EFO:1000349	"An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." []	212244	\N	\N	EFO	1	EFO	extra-adrenal sympathetic paraganglioma	Malignant Bladder Paraganglioma
EFO:0003769	EFO:0000489	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000349	"An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." []	565749	\N	\N	EFO	2	EFO	endocrine neoplasm	Malignant Bladder Paraganglioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000349	"An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." []	1147039	\N	\N	EFO	3	EFO	neoplasm	Malignant Bladder Paraganglioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000349	"An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." []	1147040	\N	\N	EFO	3	EFO	endocrine system disease	Malignant Bladder Paraganglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000349	"An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." []	2029394	\N	\N	EFO	4	EFO	disease	Malignant Bladder Paraganglioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000349	"An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." []	2029395	\N	\N	EFO	4	EFO	disease	Malignant Bladder Paraganglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000349	"An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." []	3180329	\N	\N	EFO	5	EFO	disposition	Malignant Bladder Paraganglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000349	"An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." []	4389128	\N	\N	EFO	6	EFO	material property	Malignant Bladder Paraganglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000349	"An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." []	5409144	\N	\N	EFO	7	EFO	experimental factor	Malignant Bladder Paraganglioma
EFO:1000350	\N	\N	"A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." []	EFO:1000350	"A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." []	69948	\N	\N	EFO	0	EFO	Malignant Bone Neoplasm	Malignant Bone Neoplasm
EFO:0003820	EFO:1000350	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1000350	"A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." []	212245	\N	\N	EFO	1	EFO	bone neoplasm	Malignant Bone Neoplasm
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000350	"A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." []	565750	\N	\N	EFO	2	EFO	neoplasm	Malignant Bone Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000350	"A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." []	1147041	\N	\N	EFO	3	EFO	disease	Malignant Bone Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000350	"A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." []	2029396	\N	\N	EFO	4	EFO	disposition	Malignant Bone Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000350	"A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." []	3180330	\N	\N	EFO	5	EFO	material property	Malignant Bone Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000350	"A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." []	4389129	\N	\N	EFO	6	EFO	experimental factor	Malignant Bone Neoplasm
EFO:1000351	\N	\N	"" []	EFO:1000351	"" []	69949	\N	\N	EFO	0	EFO	malignant epitheloid mesothelioma	malignant epitheloid mesothelioma
EFO:0000408	EFO:1000351	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000351	"" []	212246	\N	\N	EFO	1	EFO	disease	malignant epitheloid mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000351	"" []	565751	\N	\N	EFO	2	EFO	disposition	malignant epitheloid mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000351	"" []	1147042	\N	\N	EFO	3	EFO	material property	malignant epitheloid mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000351	"" []	2029397	\N	\N	EFO	4	EFO	experimental factor	malignant epitheloid mesothelioma
EFO:1000352	\N	\N	"A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." []	EFO:1000352	"A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." []	69950	\N	\N	EFO	0	EFO	Malignant Germ Cell Tumor	Malignant Germ Cell Tumor
EFO:0000514	EFO:1000352	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000352	"A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." []	212247	\N	\N	EFO	1	EFO	germ cell tumor	Malignant Germ Cell Tumor
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000352	"A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." []	565752	\N	\N	EFO	2	EFO	neoplasm	Malignant Germ Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000352	"A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." []	1147043	\N	\N	EFO	3	EFO	disease	Malignant Germ Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000352	"A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." []	2029398	\N	\N	EFO	4	EFO	disposition	Malignant Germ Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000352	"A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." []	3180331	\N	\N	EFO	5	EFO	material property	Malignant Germ Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000352	"A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." []	4389130	\N	\N	EFO	6	EFO	experimental factor	Malignant Germ Cell Tumor
EFO:1000353	\N	\N	"A jugulotympanic paraganglioma that metastasizes to other anatomic sites." []	EFO:1000353	"A jugulotympanic paraganglioma that metastasizes to other anatomic sites." []	69951	\N	\N	EFO	0	EFO	Malignant Jugulotympanic Paraganglioma	Malignant Jugulotympanic Paraganglioma
EFO:0000616	EFO:1000353	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000353	"A jugulotympanic paraganglioma that metastasizes to other anatomic sites." []	212248	\N	\N	EFO	1	EFO	neoplasm	Malignant Jugulotympanic Paraganglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000353	"A jugulotympanic paraganglioma that metastasizes to other anatomic sites." []	565753	\N	\N	EFO	2	EFO	disease	Malignant Jugulotympanic Paraganglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000353	"A jugulotympanic paraganglioma that metastasizes to other anatomic sites." []	1147044	\N	\N	EFO	3	EFO	disposition	Malignant Jugulotympanic Paraganglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000353	"A jugulotympanic paraganglioma that metastasizes to other anatomic sites." []	2029399	\N	\N	EFO	4	EFO	material property	Malignant Jugulotympanic Paraganglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000353	"A jugulotympanic paraganglioma that metastasizes to other anatomic sites." []	3180332	\N	\N	EFO	5	EFO	experimental factor	Malignant Jugulotympanic Paraganglioma
EFO:1000354	\N	\N	"A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." []	EFO:1000354	"A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." []	69952	\N	\N	EFO	0	EFO	Malignant Laryngeal Neoplasm	Malignant Laryngeal Neoplasm
EFO:0003817	EFO:1000354	\N	"Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." []	EFO:1000354	"A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." []	212249	\N	\N	EFO	1	EFO	laryngeal neoplasm	Malignant Laryngeal Neoplasm
EFO:0003853	EFO:0003817	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000354	"A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." []	565754	\N	\N	EFO	2	EFO	respiratory system neoplasm	Malignant Laryngeal Neoplasm
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000354	"A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." []	1147045	\N	\N	EFO	3	EFO	neoplasm	Malignant Laryngeal Neoplasm
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000354	"A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." []	1147046	\N	\N	EFO	3	EFO	respiratory system disease	Malignant Laryngeal Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000354	"A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." []	2029400	\N	\N	EFO	4	EFO	disease	Malignant Laryngeal Neoplasm
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000354	"A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." []	2029401	\N	\N	EFO	4	EFO	disease	Malignant Laryngeal Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000354	"A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." []	3180333	\N	\N	EFO	5	EFO	disposition	Malignant Laryngeal Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000354	"A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." []	4389131	\N	\N	EFO	6	EFO	material property	Malignant Laryngeal Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000354	"A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." []	5409145	\N	\N	EFO	7	EFO	experimental factor	Malignant Laryngeal Neoplasm
EFO:1000355	\N	\N	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	EFO:1000355	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	69953	\N	\N	EFO	0	EFO	Malignant Mesothelioma	Malignant Mesothelioma
EFO:0000588	EFO:1000355	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:1000355	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	212250	\N	\N	EFO	1	EFO	mesothelioma	Malignant Mesothelioma
EFO:0003853	EFO:1000355	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000355	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	212251	\N	\N	EFO	1	EFO	respiratory system neoplasm	Malignant Mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000355	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	565755	\N	\N	EFO	2	EFO	cancer	Malignant Mesothelioma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000355	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	565756	\N	\N	EFO	2	EFO	neoplasm	Malignant Mesothelioma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000355	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	565757	\N	\N	EFO	2	EFO	respiratory system disease	Malignant Mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000355	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	1147047	\N	\N	EFO	3	EFO	neoplasm	Malignant Mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000355	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	2029402	\N	\N	EFO	4	EFO	disease	Malignant Mesothelioma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000355	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	1147049	\N	\N	EFO	3	EFO	disease	Malignant Mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000355	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	2999979	\N	\N	EFO	5	EFO	disposition	Malignant Mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000355	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	4132932	\N	\N	EFO	6	EFO	material property	Malignant Mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000355	"A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." []	5181202	\N	\N	EFO	7	EFO	experimental factor	Malignant Mesothelioma
EFO:1000356	\N	\N	"A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." []	EFO:1000356	"A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." []	69954	\N	\N	EFO	0	EFO	Malignant Mixed Neoplasm	Malignant Mixed Neoplasm
EFO:0000616	EFO:1000356	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000356	"A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." []	212252	\N	\N	EFO	1	EFO	neoplasm	Malignant Mixed Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000356	"A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." []	565758	\N	\N	EFO	2	EFO	disease	Malignant Mixed Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000356	"A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." []	1147050	\N	\N	EFO	3	EFO	disposition	Malignant Mixed Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000356	"A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." []	2029404	\N	\N	EFO	4	EFO	material property	Malignant Mixed Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000356	"A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." []	3180335	\N	\N	EFO	5	EFO	experimental factor	Malignant Mixed Neoplasm
EFO:1000357	\N	\N	"A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." []	EFO:1000357	"A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." []	69955	\N	\N	EFO	0	EFO	Malignant Ovarian Brenner Tumor	Malignant Ovarian Brenner Tumor
EFO:0003893	EFO:1000357	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000357	"A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." []	212253	\N	\N	EFO	1	EFO	ovarian neoplasm	Malignant Ovarian Brenner Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000357	"A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." []	565759	\N	\N	EFO	2	EFO	urogenital neoplasm	Malignant Ovarian Brenner Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000357	"A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." []	565760	\N	\N	EFO	2	EFO	ovarian disease	Malignant Ovarian Brenner Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000357	"A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." []	1147051	\N	\N	EFO	3	EFO	neoplasm	Malignant Ovarian Brenner Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000357	"A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." []	1147052	\N	\N	EFO	3	EFO	reproductive system disease	Malignant Ovarian Brenner Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000357	"A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." []	2029405	\N	\N	EFO	4	EFO	disease	Malignant Ovarian Brenner Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000357	"A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." []	2029406	\N	\N	EFO	4	EFO	disease	Malignant Ovarian Brenner Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000357	"A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." []	3180336	\N	\N	EFO	5	EFO	disposition	Malignant Ovarian Brenner Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000357	"A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." []	4389133	\N	\N	EFO	6	EFO	material property	Malignant Ovarian Brenner Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000357	"A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the tumor is confined to the ovary, the prognosis is good." []	5409146	\N	\N	EFO	7	EFO	experimental factor	Malignant Ovarian Brenner Tumor
EFO:1000358	\N	\N	"A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." []	EFO:1000358	"A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." []	69956	\N	\N	EFO	0	EFO	Malignant Ovarian Mixed Epithelial Tumor	Malignant Ovarian Mixed Epithelial Tumor
EFO:0003893	EFO:1000358	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000358	"A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." []	212254	\N	\N	EFO	1	EFO	ovarian neoplasm	Malignant Ovarian Mixed Epithelial Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000358	"A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." []	565761	\N	\N	EFO	2	EFO	urogenital neoplasm	Malignant Ovarian Mixed Epithelial Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000358	"A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." []	565762	\N	\N	EFO	2	EFO	ovarian disease	Malignant Ovarian Mixed Epithelial Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000358	"A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." []	1147053	\N	\N	EFO	3	EFO	neoplasm	Malignant Ovarian Mixed Epithelial Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000358	"A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." []	1147054	\N	\N	EFO	3	EFO	reproductive system disease	Malignant Ovarian Mixed Epithelial Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000358	"A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." []	2029407	\N	\N	EFO	4	EFO	disease	Malignant Ovarian Mixed Epithelial Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000358	"A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." []	2029408	\N	\N	EFO	4	EFO	disease	Malignant Ovarian Mixed Epithelial Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000358	"A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." []	3180337	\N	\N	EFO	5	EFO	disposition	Malignant Ovarian Mixed Epithelial Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000358	"A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." []	4389134	\N	\N	EFO	6	EFO	material property	Malignant Ovarian Mixed Epithelial Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000358	"A malignant epithelial tumor arising from the ovary. It is characterized by an admixture of two or more of the five major cell types: serous, mucinous, endometrioid, clear, and Brenner/transitional. The second or second and third cell types must comprise alone or together at least 10% of the tumor epithelium, or, in the case of a mixed Brenner-mucinous cystic tumor, both components should be macroscopically visible. The least differentiated component determines the tumor grade (WHO, 2003)." []	5409147	\N	\N	EFO	7	EFO	experimental factor	Malignant Ovarian Mixed Epithelial Tumor
EFO:1000359	\N	\N	"A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" []	EFO:1000359	"A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" []	69957	\N	\N	EFO	0	EFO	Malignant Pancreatic Neoplasm	Malignant Pancreatic Neoplasm
EFO:0003860	EFO:1000359	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000359	"A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" []	212255	\N	\N	EFO	1	EFO	pancreatic neoplasm	Malignant Pancreatic Neoplasm
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000359	"A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" []	565763	\N	\N	EFO	2	EFO	endocrine neoplasm	Malignant Pancreatic Neoplasm
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000359	"A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" []	1147055	\N	\N	EFO	3	EFO	neoplasm	Malignant Pancreatic Neoplasm
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000359	"A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" []	1147056	\N	\N	EFO	3	EFO	endocrine system disease	Malignant Pancreatic Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000359	"A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" []	2029409	\N	\N	EFO	4	EFO	disease	Malignant Pancreatic Neoplasm
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000359	"A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" []	2029410	\N	\N	EFO	4	EFO	disease	Malignant Pancreatic Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000359	"A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" []	3180338	\N	\N	EFO	5	EFO	disposition	Malignant Pancreatic Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000359	"A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" []	4389135	\N	\N	EFO	6	EFO	material property	Malignant Pancreatic Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000359	"A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" []	5409148	\N	\N	EFO	7	EFO	experimental factor	Malignant Pancreatic Neoplasm
EFO:1000360	\N	\N	"A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." []	EFO:1000360	"A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." []	69958	\N	\N	EFO	0	EFO	Malignant Paraganglioma	Malignant Paraganglioma
EFO:0003769	EFO:1000360	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000360	"A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." []	212256	\N	\N	EFO	1	EFO	endocrine neoplasm	Malignant Paraganglioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000360	"A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." []	565764	\N	\N	EFO	2	EFO	neoplasm	Malignant Paraganglioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000360	"A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." []	565765	\N	\N	EFO	2	EFO	endocrine system disease	Malignant Paraganglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000360	"A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." []	1147057	\N	\N	EFO	3	EFO	disease	Malignant Paraganglioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000360	"A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." []	1147058	\N	\N	EFO	3	EFO	disease	Malignant Paraganglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000360	"A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." []	2029411	\N	\N	EFO	4	EFO	disposition	Malignant Paraganglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000360	"A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." []	3180339	\N	\N	EFO	5	EFO	material property	Malignant Paraganglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000360	"A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." []	4389136	\N	\N	EFO	6	EFO	experimental factor	Malignant Paraganglioma
EFO:1000361	\N	\N	"A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component." []	EFO:1000361	"A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component." []	69959	\N	\N	EFO	0	EFO	Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation	Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation
EFO:0000760	EFO:1000361	\N	"Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." []	EFO:1000361	"A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component." []	212257	\N	\N	EFO	1	EFO	malignant peripheral nerve sheath tumor	Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation
EFO:0002431	EFO:0000760	\N	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	EFO:1000361	"A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component." []	565766	\N	\N	EFO	2	EFO	tumour of cranial and spinal nerves	Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation
EFO:0000311	EFO:0002431	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000361	"A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component." []	1147059	\N	\N	EFO	3	EFO	cancer	Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000361	"A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component." []	2029412	\N	\N	EFO	4	EFO	neoplasm	Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000361	"A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component." []	3180340	\N	\N	EFO	5	EFO	disease	Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000361	"A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component." []	4389137	\N	\N	EFO	6	EFO	disposition	Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000361	"A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component." []	5409149	\N	\N	EFO	7	EFO	material property	Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000361	"A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component." []	6147586	\N	\N	EFO	8	EFO	experimental factor	Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation
EFO:1000362	\N	\N	"A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." []	EFO:1000362	"A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." []	69960	\N	\N	EFO	0	EFO	Malignant Pleural Neoplasm	Malignant Pleural Neoplasm
EFO:0003853	EFO:1000362	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000362	"A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." []	212258	\N	\N	EFO	1	EFO	respiratory system neoplasm	Malignant Pleural Neoplasm
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000362	"A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." []	565767	\N	\N	EFO	2	EFO	neoplasm	Malignant Pleural Neoplasm
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000362	"A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." []	565768	\N	\N	EFO	2	EFO	respiratory system disease	Malignant Pleural Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000362	"A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." []	1147060	\N	\N	EFO	3	EFO	disease	Malignant Pleural Neoplasm
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000362	"A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." []	1147061	\N	\N	EFO	3	EFO	disease	Malignant Pleural Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000362	"A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." []	2029413	\N	\N	EFO	4	EFO	disposition	Malignant Pleural Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000362	"A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." []	3180341	\N	\N	EFO	5	EFO	material property	Malignant Pleural Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000362	"A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." []	4389138	\N	\N	EFO	6	EFO	experimental factor	Malignant Pleural Neoplasm
EFO:1000363	\N	\N	"A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." []	EFO:1000363	"A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." []	69961	\N	\N	EFO	0	EFO	Malignant Urinary System Neoplasm	Malignant Urinary System Neoplasm
EFO:0003863	EFO:1000363	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000363	"A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." []	212259	\N	\N	EFO	1	EFO	urogenital neoplasm	Malignant Urinary System Neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000363	"A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." []	565769	\N	\N	EFO	2	EFO	neoplasm	Malignant Urinary System Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000363	"A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." []	1147062	\N	\N	EFO	3	EFO	disease	Malignant Urinary System Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000363	"A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." []	2029414	\N	\N	EFO	4	EFO	disposition	Malignant Urinary System Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000363	"A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." []	3180342	\N	\N	EFO	5	EFO	material property	Malignant Urinary System Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000363	"A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." []	4389139	\N	\N	EFO	6	EFO	experimental factor	Malignant Urinary System Neoplasm
EFO:1000364	\N	\N	"A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" []	EFO:1000364	"A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" []	69962	\N	\N	EFO	0	EFO	Mast Cell Sarcoma	Mast Cell Sarcoma
EFO:0000691	EFO:1000364	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000364	"A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" []	212260	\N	\N	EFO	1	EFO	sarcoma	Mast Cell Sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000364	"A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" []	565770	\N	\N	EFO	2	EFO	cancer	Mast Cell Sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000364	"A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" []	1147063	\N	\N	EFO	3	EFO	neoplasm	Mast Cell Sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000364	"A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" []	2029415	\N	\N	EFO	4	EFO	disease	Mast Cell Sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000364	"A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" []	3180343	\N	\N	EFO	5	EFO	disposition	Mast Cell Sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000364	"A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" []	4389140	\N	\N	EFO	6	EFO	material property	Mast Cell Sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000364	"A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" []	5409150	\N	\N	EFO	7	EFO	experimental factor	Mast Cell Sarcoma
EFO:1000365	\N	\N	"An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." []	EFO:1000365	"An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." []	69963	\N	\N	EFO	0	EFO	Maxillary Sinus Adenoid Cystic Carcinoma	Maxillary Sinus Adenoid Cystic Carcinoma
EFO:0000231	EFO:1000365	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:1000365	"An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." []	212261	\N	\N	EFO	1	EFO	adenoid cystic carcinoma	Maxillary Sinus Adenoid Cystic Carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000365	"An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." []	565771	\N	\N	EFO	2	EFO	carcinoma	Maxillary Sinus Adenoid Cystic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000365	"An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." []	1147064	\N	\N	EFO	3	EFO	cancer	Maxillary Sinus Adenoid Cystic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000365	"An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." []	1147065	\N	\N	EFO	3	EFO	epithelial neoplasm	Maxillary Sinus Adenoid Cystic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000365	"An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." []	2029416	\N	\N	EFO	4	EFO	neoplasm	Maxillary Sinus Adenoid Cystic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000365	"An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." []	2029417	\N	\N	EFO	4	EFO	neoplasm	Maxillary Sinus Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000365	"An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." []	3180344	\N	\N	EFO	5	EFO	disease	Maxillary Sinus Adenoid Cystic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000365	"An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." []	4389141	\N	\N	EFO	6	EFO	disposition	Maxillary Sinus Adenoid Cystic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000365	"An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." []	5409151	\N	\N	EFO	7	EFO	material property	Maxillary Sinus Adenoid Cystic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000365	"An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." []	6147587	\N	\N	EFO	8	EFO	experimental factor	Maxillary Sinus Adenoid Cystic Carcinoma
EFO:1000366	\N	\N	"An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." []	EFO:1000366	"An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." []	69964	\N	\N	EFO	0	EFO	Mediastinal Malignant Germ Cell Tumor	Mediastinal Malignant Germ Cell Tumor
EFO:0000514	EFO:1000366	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000366	"An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." []	212262	\N	\N	EFO	1	EFO	germ cell tumor	Mediastinal Malignant Germ Cell Tumor
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000366	"An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." []	565772	\N	\N	EFO	2	EFO	neoplasm	Mediastinal Malignant Germ Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000366	"An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." []	1147066	\N	\N	EFO	3	EFO	disease	Mediastinal Malignant Germ Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000366	"An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." []	2029418	\N	\N	EFO	4	EFO	disposition	Mediastinal Malignant Germ Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000366	"An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." []	3180345	\N	\N	EFO	5	EFO	material property	Mediastinal Malignant Germ Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000366	"An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." []	4389142	\N	\N	EFO	6	EFO	experimental factor	Mediastinal Malignant Germ Cell Tumor
EFO:1000367	\N	\N	"A neuroblastoma arising from the mediastinum." []	EFO:1000367	"A neuroblastoma arising from the mediastinum." []	69965	\N	\N	EFO	0	EFO	Mediastinal Neuroblastoma	Mediastinal Neuroblastoma
EFO:0000621	EFO:1000367	\N	"A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." []	EFO:1000367	"A neuroblastoma arising from the mediastinum." []	212263	\N	\N	EFO	1	EFO	neuroblastoma	Mediastinal Neuroblastoma
EFO:0000616	EFO:0000621	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000367	"A neuroblastoma arising from the mediastinum." []	565773	\N	\N	EFO	2	EFO	neoplasm	Mediastinal Neuroblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000367	"A neuroblastoma arising from the mediastinum." []	1147067	\N	\N	EFO	3	EFO	disease	Mediastinal Neuroblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000367	"A neuroblastoma arising from the mediastinum." []	2029419	\N	\N	EFO	4	EFO	disposition	Mediastinal Neuroblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000367	"A neuroblastoma arising from the mediastinum." []	3180346	\N	\N	EFO	5	EFO	material property	Mediastinal Neuroblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000367	"A neuroblastoma arising from the mediastinum." []	4389143	\N	\N	EFO	6	EFO	experimental factor	Mediastinal Neuroblastoma
EFO:1000368	\N	\N	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	69966	\N	\N	EFO	0	EFO	Medullomyoblastoma with Myogenic Differentiation	Medullomyoblastoma with Myogenic Differentiation
EFO:0002939	EFO:1000368	\N	"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus)" []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	212264	\N	\N	EFO	1	EFO	medulloblastoma	Medullomyoblastoma with Myogenic Differentiation
EFO:0000326	EFO:0002939	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	565774	\N	\N	EFO	2	EFO	central nervous system cancer	Medullomyoblastoma with Myogenic Differentiation
EFO:0003833	EFO:0002939	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	565775	\N	\N	EFO	2	EFO	brain neoplasm	Medullomyoblastoma with Myogenic Differentiation
EFO:0005784	EFO:0002939	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	565776	\N	\N	EFO	2	EFO	embryonal neoplasm	Medullomyoblastoma with Myogenic Differentiation
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	1147068	\N	\N	EFO	3	EFO	cancer	Medullomyoblastoma with Myogenic Differentiation
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	1147069	\N	\N	EFO	3	EFO	nervous system disease	Medullomyoblastoma with Myogenic Differentiation
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	1147070	\N	\N	EFO	3	EFO	neoplasm	Medullomyoblastoma with Myogenic Differentiation
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	1147071	\N	\N	EFO	3	EFO	brain disease	Medullomyoblastoma with Myogenic Differentiation
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	1147072	\N	\N	EFO	3	EFO	neoplasm	Medullomyoblastoma with Myogenic Differentiation
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	2029420	\N	\N	EFO	4	EFO	neoplasm	Medullomyoblastoma with Myogenic Differentiation
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	3180349	\N	\N	EFO	5	EFO	disease	Medullomyoblastoma with Myogenic Differentiation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	3180347	\N	\N	EFO	5	EFO	disease	Medullomyoblastoma with Myogenic Differentiation
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	2029423	\N	\N	EFO	4	EFO	nervous system disease	Medullomyoblastoma with Myogenic Differentiation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	4132933	\N	\N	EFO	6	EFO	disposition	Medullomyoblastoma with Myogenic Differentiation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	5181203	\N	\N	EFO	7	EFO	material property	Medullomyoblastoma with Myogenic Differentiation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000368	"A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." []	5996695	\N	\N	EFO	8	EFO	experimental factor	Medullomyoblastoma with Myogenic Differentiation
EFO:1000369	\N	\N	"A benign melanocytic proliferation within or adjacent to the optic disk. It presents as a pigmented, intraocular tumor." []	EFO:1000369	"A benign melanocytic proliferation within or adjacent to the optic disk. It presents as a pigmented, intraocular tumor." []	69967	\N	\N	EFO	0	EFO	Melanocytoma of the Eyeball	Melanocytoma of the Eyeball
EFO:0003824	EFO:1000369	\N	"Tumors or cancer of the EYE." []	EFO:1000369	"A benign melanocytic proliferation within or adjacent to the optic disk. It presents as a pigmented, intraocular tumor." []	212265	\N	\N	EFO	1	EFO	eye neoplasm	Melanocytoma of the Eyeball
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000369	"A benign melanocytic proliferation within or adjacent to the optic disk. It presents as a pigmented, intraocular tumor." []	565777	\N	\N	EFO	2	EFO	neoplasm	Melanocytoma of the Eyeball
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000369	"A benign melanocytic proliferation within or adjacent to the optic disk. It presents as a pigmented, intraocular tumor." []	565778	\N	\N	EFO	2	EFO	eye disease	Melanocytoma of the Eyeball
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000369	"A benign melanocytic proliferation within or adjacent to the optic disk. It presents as a pigmented, intraocular tumor." []	1147073	\N	\N	EFO	3	EFO	disease	Melanocytoma of the Eyeball
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000369	"A benign melanocytic proliferation within or adjacent to the optic disk. It presents as a pigmented, intraocular tumor." []	1147074	\N	\N	EFO	3	EFO	disease	Melanocytoma of the Eyeball
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000369	"A benign melanocytic proliferation within or adjacent to the optic disk. It presents as a pigmented, intraocular tumor." []	2029424	\N	\N	EFO	4	EFO	disposition	Melanocytoma of the Eyeball
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000369	"A benign melanocytic proliferation within or adjacent to the optic disk. It presents as a pigmented, intraocular tumor." []	3180350	\N	\N	EFO	5	EFO	material property	Melanocytoma of the Eyeball
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000369	"A benign melanocytic proliferation within or adjacent to the optic disk. It presents as a pigmented, intraocular tumor." []	4389145	\N	\N	EFO	6	EFO	experimental factor	Melanocytoma of the Eyeball
EFO:1000370	\N	\N	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	69968	\N	\N	EFO	0	EFO	Meningeal Melanocytoma	Meningeal Melanocytoma
Orphanet:2495	EFO:1000370	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	212266	\N	\N	EFO	1	EFO	Meningioma	Meningeal Melanocytoma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	565779	\N	\N	EFO	2	EFO	endocrine neoplasm	Meningeal Melanocytoma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	565780	\N	\N	EFO	2	EFO	meningeal neoplasm	Meningeal Melanocytoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	1147075	\N	\N	EFO	3	EFO	neoplasm	Meningeal Melanocytoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	1147076	\N	\N	EFO	3	EFO	endocrine system disease	Meningeal Melanocytoma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	1147077	\N	\N	EFO	3	EFO	brain neoplasm	Meningeal Melanocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	3180352	\N	\N	EFO	5	EFO	disease	Meningeal Melanocytoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	2029426	\N	\N	EFO	4	EFO	disease	Meningeal Melanocytoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	2029427	\N	\N	EFO	4	EFO	neoplasm	Meningeal Melanocytoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	2029428	\N	\N	EFO	4	EFO	brain disease	Meningeal Melanocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	5409154	\N	\N	EFO	7	EFO	disposition	Meningeal Melanocytoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	3180353	\N	\N	EFO	5	EFO	nervous system disease	Meningeal Melanocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	5876604	\N	\N	EFO	8	EFO	material property	Meningeal Melanocytoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	4389147	\N	\N	EFO	6	EFO	disease	Meningeal Melanocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000370	"A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." []	6469850	\N	\N	EFO	9	EFO	experimental factor	Meningeal Melanocytoma
EFO:1000371	\N	\N	"A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." []	EFO:1000371	"A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." []	69969	\N	\N	EFO	0	EFO	Meningioangiomatosis	Meningioangiomatosis
EFO:0003851	EFO:1000371	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000371	"A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." []	212267	\N	\N	EFO	1	EFO	meningeal neoplasm	Meningioangiomatosis
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000371	"A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." []	565781	\N	\N	EFO	2	EFO	brain neoplasm	Meningioangiomatosis
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000371	"A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." []	1147078	\N	\N	EFO	3	EFO	neoplasm	Meningioangiomatosis
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000371	"A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." []	1147079	\N	\N	EFO	3	EFO	brain disease	Meningioangiomatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000371	"A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." []	2029429	\N	\N	EFO	4	EFO	disease	Meningioangiomatosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000371	"A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." []	2029430	\N	\N	EFO	4	EFO	nervous system disease	Meningioangiomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000371	"A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." []	4389149	\N	\N	EFO	6	EFO	disposition	Meningioangiomatosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000371	"A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." []	3180355	\N	\N	EFO	5	EFO	disease	Meningioangiomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000371	"A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." []	5181205	\N	\N	EFO	7	EFO	material property	Meningioangiomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000371	"A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." []	5996697	\N	\N	EFO	8	EFO	experimental factor	Meningioangiomatosis
EFO:1000372	\N	\N	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	69970	\N	\N	EFO	0	EFO	Meningothelial Meningioma	Meningothelial Meningioma
Orphanet:2495	EFO:1000372	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	212268	\N	\N	EFO	1	EFO	Meningioma	Meningothelial Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	565782	\N	\N	EFO	2	EFO	endocrine neoplasm	Meningothelial Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	565783	\N	\N	EFO	2	EFO	meningeal neoplasm	Meningothelial Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	1147080	\N	\N	EFO	3	EFO	neoplasm	Meningothelial Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	1147081	\N	\N	EFO	3	EFO	endocrine system disease	Meningothelial Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	1147082	\N	\N	EFO	3	EFO	brain neoplasm	Meningothelial Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	3180357	\N	\N	EFO	5	EFO	disease	Meningothelial Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	2029432	\N	\N	EFO	4	EFO	disease	Meningothelial Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	2029433	\N	\N	EFO	4	EFO	neoplasm	Meningothelial Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	2029434	\N	\N	EFO	4	EFO	brain disease	Meningothelial Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	5409157	\N	\N	EFO	7	EFO	disposition	Meningothelial Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	3180358	\N	\N	EFO	5	EFO	nervous system disease	Meningothelial Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	5876605	\N	\N	EFO	8	EFO	material property	Meningothelial Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	4389151	\N	\N	EFO	6	EFO	disease	Meningothelial Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000372	"A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." []	6469851	\N	\N	EFO	9	EFO	experimental factor	Meningothelial Meningioma
EFO:1000373	\N	\N	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	69971	\N	\N	EFO	0	EFO	Metanephric Adenoma	Metanephric Adenoma
EFO:0000232	EFO:1000373	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	212269	\N	\N	EFO	1	EFO	adenoma	Metanephric Adenoma
EFO:0003865	EFO:1000373	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	212270	\N	\N	EFO	1	EFO	kidney neoplasm	Metanephric Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	565784	\N	\N	EFO	2	EFO	benign neoplasm	Metanephric Adenoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	565785	\N	\N	EFO	2	EFO	kidney disease	Metanephric Adenoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	565786	\N	\N	EFO	2	EFO	urogenital neoplasm	Metanephric Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	1147083	\N	\N	EFO	3	EFO	neoplasm	Metanephric Adenoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	1147084	\N	\N	EFO	3	EFO	disease	Metanephric Adenoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	1147085	\N	\N	EFO	3	EFO	neoplasm	Metanephric Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	2029435	\N	\N	EFO	4	EFO	disease	Metanephric Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	3180359	\N	\N	EFO	5	EFO	disposition	Metanephric Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	4132936	\N	\N	EFO	6	EFO	material property	Metanephric Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000373	"A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." []	5181207	\N	\N	EFO	7	EFO	experimental factor	Metanephric Adenoma
EFO:1000375	\N	\N	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	69972	\N	\N	EFO	0	EFO	Metaplastic Meningioma	Metaplastic Meningioma
Orphanet:2495	EFO:1000375	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	212271	\N	\N	EFO	1	EFO	Meningioma	Metaplastic Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	565787	\N	\N	EFO	2	EFO	endocrine neoplasm	Metaplastic Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	565788	\N	\N	EFO	2	EFO	meningeal neoplasm	Metaplastic Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	1147086	\N	\N	EFO	3	EFO	neoplasm	Metaplastic Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	1147087	\N	\N	EFO	3	EFO	endocrine system disease	Metaplastic Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	1147088	\N	\N	EFO	3	EFO	brain neoplasm	Metaplastic Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	3180362	\N	\N	EFO	5	EFO	disease	Metaplastic Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	2029438	\N	\N	EFO	4	EFO	disease	Metaplastic Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	2029439	\N	\N	EFO	4	EFO	neoplasm	Metaplastic Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	2029440	\N	\N	EFO	4	EFO	brain disease	Metaplastic Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	5409159	\N	\N	EFO	7	EFO	disposition	Metaplastic Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	3180363	\N	\N	EFO	5	EFO	nervous system disease	Metaplastic Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	5876606	\N	\N	EFO	8	EFO	material property	Metaplastic Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	4389154	\N	\N	EFO	6	EFO	disease	Metaplastic Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000375	"A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements." []	6469852	\N	\N	EFO	9	EFO	experimental factor	Metaplastic Meningioma
EFO:1000376	\N	\N	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	69973	\N	\N	EFO	0	EFO	Microcystic Meningioma	Microcystic Meningioma
Orphanet:2495	EFO:1000376	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	212272	\N	\N	EFO	1	EFO	Meningioma	Microcystic Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	565789	\N	\N	EFO	2	EFO	endocrine neoplasm	Microcystic Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	565790	\N	\N	EFO	2	EFO	meningeal neoplasm	Microcystic Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	1147089	\N	\N	EFO	3	EFO	neoplasm	Microcystic Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	1147090	\N	\N	EFO	3	EFO	endocrine system disease	Microcystic Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	1147091	\N	\N	EFO	3	EFO	brain neoplasm	Microcystic Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	3180365	\N	\N	EFO	5	EFO	disease	Microcystic Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	2029442	\N	\N	EFO	4	EFO	disease	Microcystic Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	2029443	\N	\N	EFO	4	EFO	neoplasm	Microcystic Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	2029444	\N	\N	EFO	4	EFO	brain disease	Microcystic Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	5409161	\N	\N	EFO	7	EFO	disposition	Microcystic Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	3180366	\N	\N	EFO	5	EFO	nervous system disease	Microcystic Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	5876607	\N	\N	EFO	8	EFO	material property	Microcystic Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	4389156	\N	\N	EFO	6	EFO	disease	Microcystic Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000376	"A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." []	6469853	\N	\N	EFO	9	EFO	experimental factor	Microcystic Meningioma
EFO:1000377	\N	\N	"An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." []	EFO:1000377	"An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." []	69974	\N	\N	EFO	0	EFO	Micropapillary Serous Carcinoma	Micropapillary Serous Carcinoma
EFO:0000228	EFO:1000377	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000377	"An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." []	212273	\N	\N	EFO	1	EFO	adenocarcinoma	Micropapillary Serous Carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000377	"An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." []	565791	\N	\N	EFO	2	EFO	carcinoma	Micropapillary Serous Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000377	"An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." []	1147092	\N	\N	EFO	3	EFO	cancer	Micropapillary Serous Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000377	"An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." []	1147093	\N	\N	EFO	3	EFO	epithelial neoplasm	Micropapillary Serous Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000377	"An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." []	2029445	\N	\N	EFO	4	EFO	neoplasm	Micropapillary Serous Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000377	"An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." []	2029446	\N	\N	EFO	4	EFO	neoplasm	Micropapillary Serous Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000377	"An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." []	3180367	\N	\N	EFO	5	EFO	disease	Micropapillary Serous Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000377	"An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." []	4389157	\N	\N	EFO	6	EFO	disposition	Micropapillary Serous Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000377	"An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." []	5409162	\N	\N	EFO	7	EFO	material property	Micropapillary Serous Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000377	"An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." []	6147588	\N	\N	EFO	8	EFO	experimental factor	Micropapillary Serous Carcinoma
EFO:1000378	\N	\N	"A rare squamous cell carcinoma that arises from the middle ear." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	69975	\N	\N	EFO	0	EFO	Middle Ear Squamous Cell Carcinoma	Middle Ear Squamous Cell Carcinoma
EFO:0000181	EFO:1000378	\N	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	212274	\N	\N	EFO	1	EFO	head and neck squamous cell carcinoma	Middle Ear Squamous Cell Carcinoma
EFO:0000707	EFO:0000181	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	565792	\N	\N	EFO	2	EFO	squamous cell carcinoma	Middle Ear Squamous Cell Carcinoma
EFO:0005950	EFO:0000181	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	565793	\N	\N	EFO	2	EFO	head and neck neoplasia	Middle Ear Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	1147094	\N	\N	EFO	3	EFO	carcinoma	Middle Ear Squamous Cell Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	1147095	\N	\N	EFO	3	EFO	head disease	Middle Ear Squamous Cell Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	1147096	\N	\N	EFO	3	EFO	neoplasm	Middle Ear Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	2029447	\N	\N	EFO	4	EFO	cancer	Middle Ear Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	2029448	\N	\N	EFO	4	EFO	epithelial neoplasm	Middle Ear Squamous Cell Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	2029449	\N	\N	EFO	4	EFO	disease	Middle Ear Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	4389158	\N	\N	EFO	6	EFO	disease	Middle Ear Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	3180368	\N	\N	EFO	5	EFO	neoplasm	Middle Ear Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	3180369	\N	\N	EFO	5	EFO	neoplasm	Middle Ear Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	5059439	\N	\N	EFO	7	EFO	disposition	Middle Ear Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	5876608	\N	\N	EFO	8	EFO	material property	Middle Ear Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000378	"A rare squamous cell carcinoma that arises from the middle ear." []	6469854	\N	\N	EFO	9	EFO	experimental factor	Middle Ear Squamous Cell Carcinoma
EFO:1000379	\N	\N	"An adenocarcinoma that arises from the minor salivary glands." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	69976	\N	\N	EFO	0	EFO	Minor Salivary Gland Adenocarcinoma	Minor Salivary Gland Adenocarcinoma
EFO:0000228	EFO:1000379	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	212275	\N	\N	EFO	1	EFO	adenocarcinoma	Minor Salivary Gland Adenocarcinoma
EFO:0003826	EFO:1000379	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	212276	\N	\N	EFO	1	EFO	salivary gland neoplasm	Minor Salivary Gland Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	565794	\N	\N	EFO	2	EFO	carcinoma	Minor Salivary Gland Adenocarcinoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	565795	\N	\N	EFO	2	EFO	digestive system disease	Minor Salivary Gland Adenocarcinoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	565796	\N	\N	EFO	2	EFO	head and neck neoplasia	Minor Salivary Gland Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	1147097	\N	\N	EFO	3	EFO	cancer	Minor Salivary Gland Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	1147098	\N	\N	EFO	3	EFO	epithelial neoplasm	Minor Salivary Gland Adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	1147099	\N	\N	EFO	3	EFO	disease	Minor Salivary Gland Adenocarcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	1147100	\N	\N	EFO	3	EFO	head disease	Minor Salivary Gland Adenocarcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	1147101	\N	\N	EFO	3	EFO	neoplasm	Minor Salivary Gland Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	2029451	\N	\N	EFO	4	EFO	neoplasm	Minor Salivary Gland Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	2029452	\N	\N	EFO	4	EFO	neoplasm	Minor Salivary Gland Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	4132940	\N	\N	EFO	6	EFO	disposition	Minor Salivary Gland Adenocarcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	2029454	\N	\N	EFO	4	EFO	disease	Minor Salivary Gland Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	3180371	\N	\N	EFO	5	EFO	disease	Minor Salivary Gland Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	5059440	\N	\N	EFO	7	EFO	material property	Minor Salivary Gland Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000379	"An adenocarcinoma that arises from the minor salivary glands." []	5876609	\N	\N	EFO	8	EFO	experimental factor	Minor Salivary Gland Adenocarcinoma
EFO:1000380	\N	\N	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	69977	\N	\N	EFO	0	EFO	Mixed Cell Uveal Melanoma	Mixed Cell Uveal Melanoma
EFO:0000756	EFO:1000380	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	212277	\N	\N	EFO	1	EFO	melanoma	Mixed Cell Uveal Melanoma
EFO:0003966	EFO:1000380	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	212278	\N	\N	EFO	1	EFO	eye disease	Mixed Cell Uveal Melanoma
EFO:0005950	EFO:1000380	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	212279	\N	\N	EFO	1	EFO	head and neck neoplasia	Mixed Cell Uveal Melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	565797	\N	\N	EFO	2	EFO	carcinoma	Mixed Cell Uveal Melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	565798	\N	\N	EFO	2	EFO	skin neoplasm	Mixed Cell Uveal Melanoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	565799	\N	\N	EFO	2	EFO	disease	Mixed Cell Uveal Melanoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	565800	\N	\N	EFO	2	EFO	head disease	Mixed Cell Uveal Melanoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	565801	\N	\N	EFO	2	EFO	neoplasm	Mixed Cell Uveal Melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	1147102	\N	\N	EFO	3	EFO	cancer	Mixed Cell Uveal Melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	1147103	\N	\N	EFO	3	EFO	epithelial neoplasm	Mixed Cell Uveal Melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	1147104	\N	\N	EFO	3	EFO	neoplasm	Mixed Cell Uveal Melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	1147105	\N	\N	EFO	3	EFO	skin disease	Mixed Cell Uveal Melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	4066765	\N	\N	EFO	6	EFO	disposition	Mixed Cell Uveal Melanoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	1147107	\N	\N	EFO	3	EFO	disease	Mixed Cell Uveal Melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	3180374	\N	\N	EFO	5	EFO	disease	Mixed Cell Uveal Melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	2029456	\N	\N	EFO	4	EFO	neoplasm	Mixed Cell Uveal Melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	2029457	\N	\N	EFO	4	EFO	neoplasm	Mixed Cell Uveal Melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	2029459	\N	\N	EFO	4	EFO	disease	Mixed Cell Uveal Melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	5028352	\N	\N	EFO	7	EFO	material property	Mixed Cell Uveal Melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000380	"A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." []	5817393	\N	\N	EFO	8	EFO	experimental factor	Mixed Cell Uveal Melanoma
EFO:1000381	\N	\N	"A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." []	EFO:1000381	"A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." []	69978	\N	\N	EFO	0	EFO	Mixed Epithelial Stromal Tumor of the Kidney	Mixed Epithelial Stromal Tumor of the Kidney
EFO:0003865	EFO:1000381	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000381	"A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." []	212280	\N	\N	EFO	1	EFO	kidney neoplasm	Mixed Epithelial Stromal Tumor of the Kidney
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000381	"A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." []	565802	\N	\N	EFO	2	EFO	kidney disease	Mixed Epithelial Stromal Tumor of the Kidney
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000381	"A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." []	565803	\N	\N	EFO	2	EFO	urogenital neoplasm	Mixed Epithelial Stromal Tumor of the Kidney
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000381	"A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." []	1147109	\N	\N	EFO	3	EFO	disease	Mixed Epithelial Stromal Tumor of the Kidney
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000381	"A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." []	1147110	\N	\N	EFO	3	EFO	neoplasm	Mixed Epithelial Stromal Tumor of the Kidney
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000381	"A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." []	3180377	\N	\N	EFO	5	EFO	disposition	Mixed Epithelial Stromal Tumor of the Kidney
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000381	"A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." []	2029463	\N	\N	EFO	4	EFO	disease	Mixed Epithelial Stromal Tumor of the Kidney
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000381	"A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." []	4132942	\N	\N	EFO	6	EFO	material property	Mixed Epithelial Stromal Tumor of the Kidney
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000381	"A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." []	5181211	\N	\N	EFO	7	EFO	experimental factor	Mixed Epithelial Stromal Tumor of the Kidney
EFO:1000382	\N	\N	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	69979	\N	\N	EFO	0	EFO	Mixed Lobular and Ductal Breast Carcinoma	Mixed Lobular and Ductal Breast Carcinoma
EFO:0000304	EFO:1000382	\N	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	212281	\N	\N	EFO	1	EFO	breast adenocarcinoma	Mixed Lobular and Ductal Breast Carcinoma
EFO:0000228	EFO:0000304	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	565804	\N	\N	EFO	2	EFO	adenocarcinoma	Mixed Lobular and Ductal Breast Carcinoma
EFO:0000305	EFO:0000304	\N	"Tumors or cancer of the human BREAST." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	565805	\N	\N	EFO	2	EFO	breast carcinoma	Mixed Lobular and Ductal Breast Carcinoma
EFO:0003869	EFO:0000304	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	565806	\N	\N	EFO	2	EFO	breast neoplasm	Mixed Lobular and Ductal Breast Carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	1147111	\N	\N	EFO	3	EFO	carcinoma	Mixed Lobular and Ductal Breast Carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	1147112	\N	\N	EFO	3	EFO	carcinoma	Mixed Lobular and Ductal Breast Carcinoma
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	1147113	\N	\N	EFO	3	EFO	neoplasm	Mixed Lobular and Ductal Breast Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	2029464	\N	\N	EFO	4	EFO	cancer	Mixed Lobular and Ductal Breast Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	2029465	\N	\N	EFO	4	EFO	epithelial neoplasm	Mixed Lobular and Ductal Breast Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	4389162	\N	\N	EFO	6	EFO	disease	Mixed Lobular and Ductal Breast Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	3180378	\N	\N	EFO	5	EFO	neoplasm	Mixed Lobular and Ductal Breast Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	3180379	\N	\N	EFO	5	EFO	neoplasm	Mixed Lobular and Ductal Breast Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	5059442	\N	\N	EFO	7	EFO	disposition	Mixed Lobular and Ductal Breast Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	5876610	\N	\N	EFO	8	EFO	material property	Mixed Lobular and Ductal Breast Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000382	"A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." []	6469855	\N	\N	EFO	9	EFO	experimental factor	Mixed Lobular and Ductal Breast Carcinoma
EFO:1000383	\N	\N	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	69980	\N	\N	EFO	0	EFO	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0000232	EFO:1000383	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	212282	\N	\N	EFO	1	EFO	adenoma	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0003769	EFO:1000383	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	212283	\N	\N	EFO	1	EFO	endocrine neoplasm	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0003833	EFO:1000383	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	212284	\N	\N	EFO	1	EFO	brain neoplasm	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	565807	\N	\N	EFO	2	EFO	benign neoplasm	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	565808	\N	\N	EFO	2	EFO	neoplasm	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	565809	\N	\N	EFO	2	EFO	endocrine system disease	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	565810	\N	\N	EFO	2	EFO	neoplasm	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	565811	\N	\N	EFO	2	EFO	brain disease	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	1147114	\N	\N	EFO	3	EFO	neoplasm	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	2029467	\N	\N	EFO	4	EFO	disease	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	1147116	\N	\N	EFO	3	EFO	disease	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	1147117	\N	\N	EFO	3	EFO	nervous system disease	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	2999982	\N	\N	EFO	5	EFO	disposition	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	2029469	\N	\N	EFO	4	EFO	disease	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	4132943	\N	\N	EFO	6	EFO	material property	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000383	"An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." []	5181212	\N	\N	EFO	7	EFO	experimental factor	Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
EFO:1000384	\N	\N	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	EFO:1000384	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	69981	\N	\N	EFO	0	EFO	Mixed Tumor of the Salivary Gland	Mixed Tumor of the Salivary Gland
EFO:0003826	EFO:1000384	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000384	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	212285	\N	\N	EFO	1	EFO	salivary gland neoplasm	Mixed Tumor of the Salivary Gland
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000384	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	565812	\N	\N	EFO	2	EFO	digestive system disease	Mixed Tumor of the Salivary Gland
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000384	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	565813	\N	\N	EFO	2	EFO	head and neck neoplasia	Mixed Tumor of the Salivary Gland
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000384	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	1147118	\N	\N	EFO	3	EFO	disease	Mixed Tumor of the Salivary Gland
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000384	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	1147119	\N	\N	EFO	3	EFO	head disease	Mixed Tumor of the Salivary Gland
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000384	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	1147120	\N	\N	EFO	3	EFO	neoplasm	Mixed Tumor of the Salivary Gland
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000384	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	3180383	\N	\N	EFO	5	EFO	disposition	Mixed Tumor of the Salivary Gland
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000384	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	2029471	\N	\N	EFO	4	EFO	disease	Mixed Tumor of the Salivary Gland
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000384	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	2029472	\N	\N	EFO	4	EFO	disease	Mixed Tumor of the Salivary Gland
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000384	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	4132944	\N	\N	EFO	6	EFO	material property	Mixed Tumor of the Salivary Gland
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000384	"A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma." []	5181213	\N	\N	EFO	7	EFO	experimental factor	Mixed Tumor of the Salivary Gland
EFO:1000385	\N	\N	"A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." []	EFO:1000385	"A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." []	69982	\N	\N	EFO	0	EFO	Mixed Tumor of the Skin	Mixed Tumor of the Skin
EFO:0004198	EFO:1000385	\N	"Tumors or cancer of the SKIN." []	EFO:1000385	"A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." []	212286	\N	\N	EFO	1	EFO	skin neoplasm	Mixed Tumor of the Skin
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000385	"A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." []	565814	\N	\N	EFO	2	EFO	neoplasm	Mixed Tumor of the Skin
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000385	"A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." []	565815	\N	\N	EFO	2	EFO	skin disease	Mixed Tumor of the Skin
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000385	"A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." []	1147121	\N	\N	EFO	3	EFO	disease	Mixed Tumor of the Skin
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000385	"A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." []	1147122	\N	\N	EFO	3	EFO	disease	Mixed Tumor of the Skin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000385	"A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." []	2029473	\N	\N	EFO	4	EFO	disposition	Mixed Tumor of the Skin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000385	"A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." []	3180384	\N	\N	EFO	5	EFO	material property	Mixed Tumor of the Skin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000385	"A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." []	4389166	\N	\N	EFO	6	EFO	experimental factor	Mixed Tumor of the Skin
EFO:1000386	\N	\N	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	69983	\N	\N	EFO	0	EFO	Mucinous Gastric Adenocarcinoma	Mucinous Gastric Adenocarcinoma
EFO:0000197	EFO:1000386	\N	"An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	212287	\N	\N	EFO	1	EFO	mucinous carcinoma	Mucinous Gastric Adenocarcinoma
EFO:0000503	EFO:1000386	\N	"curative" []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	212288	\N	\N	EFO	1	EFO	gastric adenocarcinoma	Mucinous Gastric Adenocarcinoma
EFO:0000313	EFO:0000197	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	565816	\N	\N	EFO	2	EFO	carcinoma	Mucinous Gastric Adenocarcinoma
EFO:0000228	EFO:0000503	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	565817	\N	\N	EFO	2	EFO	adenocarcinoma	Mucinous Gastric Adenocarcinoma
EFO:0003897	EFO:0000503	\N	"Tumors or cancer of the STOMACH." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	565818	\N	\N	EFO	2	EFO	stomach neoplasm	Mucinous Gastric Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	2029476	\N	\N	EFO	4	EFO	cancer	Mucinous Gastric Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	2029477	\N	\N	EFO	4	EFO	epithelial neoplasm	Mucinous Gastric Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	1147125	\N	\N	EFO	3	EFO	carcinoma	Mucinous Gastric Adenocarcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	1147126	\N	\N	EFO	3	EFO	digestive system disease	Mucinous Gastric Adenocarcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	1147127	\N	\N	EFO	3	EFO	neoplasm	Mucinous Gastric Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	2999983	\N	\N	EFO	5	EFO	neoplasm	Mucinous Gastric Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	2999984	\N	\N	EFO	5	EFO	neoplasm	Mucinous Gastric Adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	2029478	\N	\N	EFO	4	EFO	disease	Mucinous Gastric Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	4132945	\N	\N	EFO	6	EFO	disease	Mucinous Gastric Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	5059443	\N	\N	EFO	7	EFO	disposition	Mucinous Gastric Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	5876611	\N	\N	EFO	8	EFO	material property	Mucinous Gastric Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000386	"A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." []	6469856	\N	\N	EFO	9	EFO	experimental factor	Mucinous Gastric Adenocarcinoma
EFO:1000387	\N	\N	"" []	EFO:1000387	"" []	69984	\N	\N	EFO	0	EFO	mucinuos carcinoma	mucinuos carcinoma
EFO:0000228	EFO:1000387	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000387	"" []	212289	\N	\N	EFO	1	EFO	adenocarcinoma	mucinuos carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000387	"" []	565819	\N	\N	EFO	2	EFO	carcinoma	mucinuos carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000387	"" []	1147128	\N	\N	EFO	3	EFO	cancer	mucinuos carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000387	"" []	1147129	\N	\N	EFO	3	EFO	epithelial neoplasm	mucinuos carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000387	"" []	2029480	\N	\N	EFO	4	EFO	neoplasm	mucinuos carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000387	"" []	2029481	\N	\N	EFO	4	EFO	neoplasm	mucinuos carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000387	"" []	3180387	\N	\N	EFO	5	EFO	disease	mucinuos carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000387	"" []	4389168	\N	\N	EFO	6	EFO	disposition	mucinuos carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000387	"" []	5409166	\N	\N	EFO	7	EFO	material property	mucinuos carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000387	"" []	6147589	\N	\N	EFO	8	EFO	experimental factor	mucinuos carcinoma
EFO:1000388	\N	\N	"A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." []	EFO:1000388	"A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." []	69985	\N	\N	EFO	0	EFO	Myelodysplastic/Myeloproliferative Neoplasm	Myelodysplastic/Myeloproliferative Neoplasm
EFO:0002427	EFO:1000388	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1000388	"A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." []	212290	\N	\N	EFO	1	EFO	myeloid neoplasm	Myelodysplastic/Myeloproliferative Neoplasm
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000388	"A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." []	565820	\N	\N	EFO	2	EFO	lymphoid neoplasm	Myelodysplastic/Myeloproliferative Neoplasm
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000388	"A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." []	1147130	\N	\N	EFO	3	EFO	cancer	Myelodysplastic/Myeloproliferative Neoplasm
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000388	"A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." []	1147131	\N	\N	EFO	3	EFO	hematological system disease	Myelodysplastic/Myeloproliferative Neoplasm
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000388	"A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." []	2029482	\N	\N	EFO	4	EFO	neoplasm	Myelodysplastic/Myeloproliferative Neoplasm
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000388	"A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." []	2029483	\N	\N	EFO	4	EFO	disease	Myelodysplastic/Myeloproliferative Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000388	"A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." []	3180388	\N	\N	EFO	5	EFO	disease	Myelodysplastic/Myeloproliferative Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000388	"A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." []	4389169	\N	\N	EFO	6	EFO	disposition	Myelodysplastic/Myeloproliferative Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000388	"A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." []	5181215	\N	\N	EFO	7	EFO	material property	Myelodysplastic/Myeloproliferative Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000388	"A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." []	5996702	\N	\N	EFO	8	EFO	experimental factor	Myelodysplastic/Myeloproliferative Neoplasm
EFO:1000389	\N	\N	"A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." []	EFO:1000389	"A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." []	69986	\N	\N	EFO	0	EFO	Myofibroma	Myofibroma
EFO:0002424	EFO:1000389	\N	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	EFO:1000389	"A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." []	212291	\N	\N	EFO	1	EFO	fibroma	Myofibroma
EFO:0002422	EFO:0002424	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000389	"A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." []	565821	\N	\N	EFO	2	EFO	benign neoplasm	Myofibroma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000389	"A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." []	1147132	\N	\N	EFO	3	EFO	neoplasm	Myofibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000389	"A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." []	2029484	\N	\N	EFO	4	EFO	disease	Myofibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000389	"A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." []	3180390	\N	\N	EFO	5	EFO	disposition	Myofibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000389	"A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." []	4389171	\N	\N	EFO	6	EFO	material property	Myofibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000389	"A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." []	5409168	\N	\N	EFO	7	EFO	experimental factor	Myofibroma
EFO:1000390	\N	\N	"a mucus-filled cyst on the surface of the cervix. They are most often caused when stratified squamous epithelium of the ectocervix (toward the vagina) grows over the simple columnar epithelium of the endocervix (toward the uterus). This tissue growth can block the cervical crypts (subdermal pockets usually 210 mm in diameter), trapping cervical mucus inside the crypts." []	EFO:1000390	"a mucus-filled cyst on the surface of the cervix. They are most often caused when stratified squamous epithelium of the ectocervix (toward the vagina) grows over the simple columnar epithelium of the endocervix (toward the uterus). This tissue growth can block the cervical crypts (subdermal pockets usually 210 mm in diameter), trapping cervical mucus inside the crypts." []	69987	\N	\N	EFO	0	EFO	Nabothian Cyst	Nabothian Cyst
EFO:0000512	EFO:1000390	\N	"any diease of the reproductive system" []	EFO:1000390	"a mucus-filled cyst on the surface of the cervix. They are most often caused when stratified squamous epithelium of the ectocervix (toward the vagina) grows over the simple columnar epithelium of the endocervix (toward the uterus). This tissue growth can block the cervical crypts (subdermal pockets usually 210 mm in diameter), trapping cervical mucus inside the crypts." []	212292	\N	\N	EFO	1	EFO	reproductive system disease	Nabothian Cyst
EFO:0003863	EFO:1000390	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000390	"a mucus-filled cyst on the surface of the cervix. They are most often caused when stratified squamous epithelium of the ectocervix (toward the vagina) grows over the simple columnar epithelium of the endocervix (toward the uterus). This tissue growth can block the cervical crypts (subdermal pockets usually 210 mm in diameter), trapping cervical mucus inside the crypts." []	212293	\N	\N	EFO	1	EFO	urogenital neoplasm	Nabothian Cyst
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000390	"a mucus-filled cyst on the surface of the cervix. They are most often caused when stratified squamous epithelium of the ectocervix (toward the vagina) grows over the simple columnar epithelium of the endocervix (toward the uterus). This tissue growth can block the cervical crypts (subdermal pockets usually 210 mm in diameter), trapping cervical mucus inside the crypts." []	565822	\N	\N	EFO	2	EFO	disease	Nabothian Cyst
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000390	"a mucus-filled cyst on the surface of the cervix. They are most often caused when stratified squamous epithelium of the ectocervix (toward the vagina) grows over the simple columnar epithelium of the endocervix (toward the uterus). This tissue growth can block the cervical crypts (subdermal pockets usually 210 mm in diameter), trapping cervical mucus inside the crypts." []	565823	\N	\N	EFO	2	EFO	neoplasm	Nabothian Cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000390	"a mucus-filled cyst on the surface of the cervix. They are most often caused when stratified squamous epithelium of the ectocervix (toward the vagina) grows over the simple columnar epithelium of the endocervix (toward the uterus). This tissue growth can block the cervical crypts (subdermal pockets usually 210 mm in diameter), trapping cervical mucus inside the crypts." []	2029486	\N	\N	EFO	4	EFO	disposition	Nabothian Cyst
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000390	"a mucus-filled cyst on the surface of the cervix. They are most often caused when stratified squamous epithelium of the ectocervix (toward the vagina) grows over the simple columnar epithelium of the endocervix (toward the uterus). This tissue growth can block the cervical crypts (subdermal pockets usually 210 mm in diameter), trapping cervical mucus inside the crypts." []	1147134	\N	\N	EFO	3	EFO	disease	Nabothian Cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000390	"a mucus-filled cyst on the surface of the cervix. They are most often caused when stratified squamous epithelium of the ectocervix (toward the vagina) grows over the simple columnar epithelium of the endocervix (toward the uterus). This tissue growth can block the cervical crypts (subdermal pockets usually 210 mm in diameter), trapping cervical mucus inside the crypts." []	2999985	\N	\N	EFO	5	EFO	material property	Nabothian Cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000390	"a mucus-filled cyst on the surface of the cervix. They are most often caused when stratified squamous epithelium of the ectocervix (toward the vagina) grows over the simple columnar epithelium of the endocervix (toward the uterus). This tissue growth can block the cervical crypts (subdermal pockets usually 210 mm in diameter), trapping cervical mucus inside the crypts." []	4132947	\N	\N	EFO	6	EFO	experimental factor	Nabothian Cyst
EFO:1000391	\N	\N	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	69988	\N	\N	EFO	0	EFO	Nasal Cavity Polyp	Nasal Cavity Polyp
EFO:0000662	EFO:1000391	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	212294	\N	\N	EFO	1	EFO	polyp	Nasal Cavity Polyp
EFO:0003853	EFO:1000391	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	212295	\N	\N	EFO	1	EFO	respiratory system neoplasm	Nasal Cavity Polyp
EFO:0005950	EFO:1000391	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	212296	\N	\N	EFO	1	EFO	head and neck neoplasia	Nasal Cavity Polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	565824	\N	\N	EFO	2	EFO	neoplasm	Nasal Cavity Polyp
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	565825	\N	\N	EFO	2	EFO	neoplasm	Nasal Cavity Polyp
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	565826	\N	\N	EFO	2	EFO	respiratory system disease	Nasal Cavity Polyp
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	565827	\N	\N	EFO	2	EFO	head disease	Nasal Cavity Polyp
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	565828	\N	\N	EFO	2	EFO	neoplasm	Nasal Cavity Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	1147135	\N	\N	EFO	3	EFO	disease	Nasal Cavity Polyp
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	1147136	\N	\N	EFO	3	EFO	disease	Nasal Cavity Polyp
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	1147137	\N	\N	EFO	3	EFO	disease	Nasal Cavity Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	2029487	\N	\N	EFO	4	EFO	disposition	Nasal Cavity Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	3180392	\N	\N	EFO	5	EFO	material property	Nasal Cavity Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000391	"A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." []	4389172	\N	\N	EFO	6	EFO	experimental factor	Nasal Cavity Polyp
EFO:1000392	\N	\N	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C37005&ns=NCI_Thesaurus" []	EFO:1000392	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C37005&ns=NCI_Thesaurus" []	69989	\N	\N	EFO	0	EFO	Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm	Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm
EFO:0000616	EFO:1000392	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000392	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C37005&ns=NCI_Thesaurus" []	212297	\N	\N	EFO	1	EFO	neoplasm	Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000392	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C37005&ns=NCI_Thesaurus" []	565829	\N	\N	EFO	2	EFO	disease	Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000392	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C37005&ns=NCI_Thesaurus" []	1147138	\N	\N	EFO	3	EFO	disposition	Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000392	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C37005&ns=NCI_Thesaurus" []	2029488	\N	\N	EFO	4	EFO	material property	Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000392	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C37005&ns=NCI_Thesaurus" []	3180393	\N	\N	EFO	5	EFO	experimental factor	Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm
EFO:1000393	\N	\N	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	69990	\N	\N	EFO	0	EFO	Neuroblastic Tumor	Neuroblastic Tumor
EFO:0005235	EFO:1000393	\N	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	212298	\N	\N	EFO	1	EFO	primitive neuroectodermal tumor	Neuroblastic Tumor
EFO:0003833	EFO:0005235	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	565830	\N	\N	EFO	2	EFO	brain neoplasm	Neuroblastic Tumor
EFO:0005784	EFO:0005235	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	565831	\N	\N	EFO	2	EFO	embryonal neoplasm	Neuroblastic Tumor
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	1147139	\N	\N	EFO	3	EFO	neoplasm	Neuroblastic Tumor
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	1147140	\N	\N	EFO	3	EFO	brain disease	Neuroblastic Tumor
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	1147141	\N	\N	EFO	3	EFO	neoplasm	Neuroblastic Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	2029489	\N	\N	EFO	4	EFO	disease	Neuroblastic Tumor
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	2029490	\N	\N	EFO	4	EFO	nervous system disease	Neuroblastic Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	4389174	\N	\N	EFO	6	EFO	disposition	Neuroblastic Tumor
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	3180395	\N	\N	EFO	5	EFO	disease	Neuroblastic Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	5181216	\N	\N	EFO	7	EFO	material property	Neuroblastic Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000393	"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." []	5996703	\N	\N	EFO	8	EFO	experimental factor	Neuroblastic Tumor
EFO:1000394	\N	\N	"A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." []	EFO:1000394	"A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." []	69991	\N	\N	EFO	0	EFO	Neurothekeoma	Neurothekeoma
EFO:0000616	EFO:1000394	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000394	"A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." []	212299	\N	\N	EFO	1	EFO	neoplasm	Neurothekeoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000394	"A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." []	565832	\N	\N	EFO	2	EFO	disease	Neurothekeoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000394	"A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." []	1147142	\N	\N	EFO	3	EFO	disposition	Neurothekeoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000394	"A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." []	2029491	\N	\N	EFO	4	EFO	material property	Neurothekeoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000394	"A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." []	3180396	\N	\N	EFO	5	EFO	experimental factor	Neurothekeoma
EFO:1000395	\N	\N	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	EFO:1000395	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	69992	\N	\N	EFO	0	EFO	Nevus of Ito	Nevus of Ito
EFO:0000625	EFO:1000395	\N	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	EFO:1000395	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	212300	\N	\N	EFO	1	EFO	nevus	Nevus of Ito
EFO:0002422	EFO:0000625	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000395	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	565833	\N	\N	EFO	2	EFO	benign neoplasm	Nevus of Ito
EFO:0004198	EFO:0000625	\N	"Tumors or cancer of the SKIN." []	EFO:1000395	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	565834	\N	\N	EFO	2	EFO	skin neoplasm	Nevus of Ito
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000395	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	1147143	\N	\N	EFO	3	EFO	neoplasm	Nevus of Ito
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000395	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	1147144	\N	\N	EFO	3	EFO	neoplasm	Nevus of Ito
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000395	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	1147145	\N	\N	EFO	3	EFO	skin disease	Nevus of Ito
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000395	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	2029492	\N	\N	EFO	4	EFO	disease	Nevus of Ito
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000395	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	2029493	\N	\N	EFO	4	EFO	disease	Nevus of Ito
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000395	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	3180397	\N	\N	EFO	5	EFO	disposition	Nevus of Ito
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000395	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	4389175	\N	\N	EFO	6	EFO	material property	Nevus of Ito
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000395	"A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." []	5409170	\N	\N	EFO	7	EFO	experimental factor	Nevus of Ito
EFO:1000396	\N	\N	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	EFO:1000396	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	69993	\N	\N	EFO	0	EFO	Nevus of Ota	Nevus of Ota
EFO:0000625	EFO:1000396	\N	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	EFO:1000396	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	212301	\N	\N	EFO	1	EFO	nevus	Nevus of Ota
EFO:0002422	EFO:0000625	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000396	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	565835	\N	\N	EFO	2	EFO	benign neoplasm	Nevus of Ota
EFO:0004198	EFO:0000625	\N	"Tumors or cancer of the SKIN." []	EFO:1000396	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	565836	\N	\N	EFO	2	EFO	skin neoplasm	Nevus of Ota
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000396	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	1147146	\N	\N	EFO	3	EFO	neoplasm	Nevus of Ota
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000396	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	1147147	\N	\N	EFO	3	EFO	neoplasm	Nevus of Ota
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000396	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	1147148	\N	\N	EFO	3	EFO	skin disease	Nevus of Ota
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000396	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	2029494	\N	\N	EFO	4	EFO	disease	Nevus of Ota
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000396	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	2029495	\N	\N	EFO	4	EFO	disease	Nevus of Ota
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000396	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	3180398	\N	\N	EFO	5	EFO	disposition	Nevus of Ota
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000396	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	4389176	\N	\N	EFO	6	EFO	material property	Nevus of Ota
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000396	"A brown, blue, or gray hamartoma of dermal melanocytes, usually on the skin of the face along the distribution of the ophthalmic and maxillary branches of the trigeminal nerve that is most commonly found in Asian populations and in females and is usually benign. It may also involve the oral or ocular mucosal surfaces, and periosteum." []	5409171	\N	\N	EFO	7	EFO	experimental factor	Nevus of Ota
EFO:1000397	\N	\N	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	69994	\N	\N	EFO	0	EFO	Non-Cutaneous Melanoma	Non-Cutaneous Melanoma
EFO:0000756	EFO:1000397	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	212302	\N	\N	EFO	1	EFO	melanoma	Non-Cutaneous Melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	565837	\N	\N	EFO	2	EFO	carcinoma	Non-Cutaneous Melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	565838	\N	\N	EFO	2	EFO	skin neoplasm	Non-Cutaneous Melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	1147149	\N	\N	EFO	3	EFO	cancer	Non-Cutaneous Melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	1147150	\N	\N	EFO	3	EFO	epithelial neoplasm	Non-Cutaneous Melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	1147151	\N	\N	EFO	3	EFO	neoplasm	Non-Cutaneous Melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	1147152	\N	\N	EFO	3	EFO	skin disease	Non-Cutaneous Melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	2029496	\N	\N	EFO	4	EFO	neoplasm	Non-Cutaneous Melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	2029497	\N	\N	EFO	4	EFO	neoplasm	Non-Cutaneous Melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	3180399	\N	\N	EFO	5	EFO	disease	Non-Cutaneous Melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	2029499	\N	\N	EFO	4	EFO	disease	Non-Cutaneous Melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	4132948	\N	\N	EFO	6	EFO	disposition	Non-Cutaneous Melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	5181217	\N	\N	EFO	7	EFO	material property	Non-Cutaneous Melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000397	"Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" []	5996704	\N	\N	EFO	8	EFO	experimental factor	Non-Cutaneous Melanoma
EFO:1000398	\N	\N	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." []	EFO:1000398	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." []	69995	\N	\N	EFO	0	EFO	Non-Functional Pancreatic Neuroendocrine Tumor	Non-Functional Pancreatic Neuroendocrine Tumor
EFO:0003860	EFO:1000398	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000398	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." []	212303	\N	\N	EFO	1	EFO	pancreatic neoplasm	Non-Functional Pancreatic Neuroendocrine Tumor
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000398	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." []	565839	\N	\N	EFO	2	EFO	endocrine neoplasm	Non-Functional Pancreatic Neuroendocrine Tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000398	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." []	1147153	\N	\N	EFO	3	EFO	neoplasm	Non-Functional Pancreatic Neuroendocrine Tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000398	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." []	1147154	\N	\N	EFO	3	EFO	endocrine system disease	Non-Functional Pancreatic Neuroendocrine Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000398	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." []	2029500	\N	\N	EFO	4	EFO	disease	Non-Functional Pancreatic Neuroendocrine Tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000398	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." []	2029501	\N	\N	EFO	4	EFO	disease	Non-Functional Pancreatic Neuroendocrine Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000398	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." []	3180401	\N	\N	EFO	5	EFO	disposition	Non-Functional Pancreatic Neuroendocrine Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000398	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." []	4389178	\N	\N	EFO	6	EFO	material property	Non-Functional Pancreatic Neuroendocrine Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000398	"A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." []	5409173	\N	\N	EFO	7	EFO	experimental factor	Non-Functional Pancreatic Neuroendocrine Tumor
EFO:1000399	\N	\N	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	EFO:1000399	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	69996	\N	\N	EFO	0	EFO	Non-Functioning Adrenal Cortex Adenoma	Non-Functioning Adrenal Cortex Adenoma
EFO:0000232	EFO:1000399	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000399	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	212304	\N	\N	EFO	1	EFO	adenoma	Non-Functioning Adrenal Cortex Adenoma
EFO:0003769	EFO:1000399	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000399	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	212305	\N	\N	EFO	1	EFO	endocrine neoplasm	Non-Functioning Adrenal Cortex Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000399	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	565840	\N	\N	EFO	2	EFO	benign neoplasm	Non-Functioning Adrenal Cortex Adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000399	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	565841	\N	\N	EFO	2	EFO	neoplasm	Non-Functioning Adrenal Cortex Adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000399	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	565842	\N	\N	EFO	2	EFO	endocrine system disease	Non-Functioning Adrenal Cortex Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000399	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	1147155	\N	\N	EFO	3	EFO	neoplasm	Non-Functioning Adrenal Cortex Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000399	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	2029502	\N	\N	EFO	4	EFO	disease	Non-Functioning Adrenal Cortex Adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000399	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	1147157	\N	\N	EFO	3	EFO	disease	Non-Functioning Adrenal Cortex Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000399	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	2999986	\N	\N	EFO	5	EFO	disposition	Non-Functioning Adrenal Cortex Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000399	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	4132949	\N	\N	EFO	6	EFO	material property	Non-Functioning Adrenal Cortex Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000399	"An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." []	5181218	\N	\N	EFO	7	EFO	experimental factor	Non-Functioning Adrenal Cortex Adenoma
EFO:1000400	\N	\N	"A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." []	EFO:1000400	"A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." []	69997	\N	\N	EFO	0	EFO	Non-Neoplastic Bile Duct Disorder	Non-Neoplastic Bile Duct Disorder
EFO:0001421	EFO:1000400	\N	"Pathological processes of the LIVER." []	EFO:1000400	"A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." []	212306	\N	\N	EFO	1	EFO	liver disease	Non-Neoplastic Bile Duct Disorder
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000400	"A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." []	565843	\N	\N	EFO	2	EFO	digestive system disease	Non-Neoplastic Bile Duct Disorder
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000400	"A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." []	565844	\N	\N	EFO	2	EFO	endocrine system disease	Non-Neoplastic Bile Duct Disorder
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000400	"A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." []	1147158	\N	\N	EFO	3	EFO	disease	Non-Neoplastic Bile Duct Disorder
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000400	"A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." []	1147159	\N	\N	EFO	3	EFO	disease	Non-Neoplastic Bile Duct Disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000400	"A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." []	2029504	\N	\N	EFO	4	EFO	disposition	Non-Neoplastic Bile Duct Disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000400	"A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." []	3180403	\N	\N	EFO	5	EFO	material property	Non-Neoplastic Bile Duct Disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000400	"A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." []	4389180	\N	\N	EFO	6	EFO	experimental factor	Non-Neoplastic Bile Duct Disorder
EFO:1000401	\N	\N	"A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." []	EFO:1000401	"A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." []	69998	\N	\N	EFO	0	EFO	Non-Seminomatous Lesion	Non-Seminomatous Lesion
EFO:0000512	EFO:1000401	\N	"any diease of the reproductive system" []	EFO:1000401	"A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." []	212307	\N	\N	EFO	1	EFO	reproductive system disease	Non-Seminomatous Lesion
EFO:0003863	EFO:1000401	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000401	"A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." []	212308	\N	\N	EFO	1	EFO	urogenital neoplasm	Non-Seminomatous Lesion
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000401	"A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." []	565845	\N	\N	EFO	2	EFO	disease	Non-Seminomatous Lesion
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000401	"A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." []	565846	\N	\N	EFO	2	EFO	neoplasm	Non-Seminomatous Lesion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000401	"A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." []	2029506	\N	\N	EFO	4	EFO	disposition	Non-Seminomatous Lesion
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000401	"A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." []	1147161	\N	\N	EFO	3	EFO	disease	Non-Seminomatous Lesion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000401	"A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." []	2999987	\N	\N	EFO	5	EFO	material property	Non-Seminomatous Lesion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000401	"A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." []	4132950	\N	\N	EFO	6	EFO	experimental factor	Non-Seminomatous Lesion
EFO:1000402	\N	\N	"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." []	EFO:1000402	"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." []	69999	\N	\N	EFO	0	EFO	Normal Breast-Like Subtype of Breast Carcinoma	Normal Breast-Like Subtype of Breast Carcinoma
EFO:0000305	EFO:1000402	\N	"Tumors or cancer of the human BREAST." []	EFO:1000402	"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." []	212309	\N	\N	EFO	1	EFO	breast carcinoma	Normal Breast-Like Subtype of Breast Carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000402	"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." []	565847	\N	\N	EFO	2	EFO	carcinoma	Normal Breast-Like Subtype of Breast Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000402	"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." []	1147162	\N	\N	EFO	3	EFO	cancer	Normal Breast-Like Subtype of Breast Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000402	"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." []	1147163	\N	\N	EFO	3	EFO	epithelial neoplasm	Normal Breast-Like Subtype of Breast Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000402	"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." []	2029507	\N	\N	EFO	4	EFO	neoplasm	Normal Breast-Like Subtype of Breast Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000402	"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." []	2029508	\N	\N	EFO	4	EFO	neoplasm	Normal Breast-Like Subtype of Breast Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000402	"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." []	3180405	\N	\N	EFO	5	EFO	disease	Normal Breast-Like Subtype of Breast Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000402	"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." []	4389181	\N	\N	EFO	6	EFO	disposition	Normal Breast-Like Subtype of Breast Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000402	"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." []	5409174	\N	\N	EFO	7	EFO	material property	Normal Breast-Like Subtype of Breast Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000402	"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." []	6147590	\N	\N	EFO	8	EFO	experimental factor	Normal Breast-Like Subtype of Breast Carcinoma
EFO:1000403	\N	\N	"A melanoma that arises from the structures of the eye or ocular adnexa." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	70000	\N	\N	EFO	0	EFO	Ocular Melanoma	Ocular Melanoma
EFO:0000756	EFO:1000403	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	212310	\N	\N	EFO	1	EFO	melanoma	Ocular Melanoma
EFO:0003824	EFO:1000403	\N	"Tumors or cancer of the EYE." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	212311	\N	\N	EFO	1	EFO	eye neoplasm	Ocular Melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	565848	\N	\N	EFO	2	EFO	carcinoma	Ocular Melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	565849	\N	\N	EFO	2	EFO	skin neoplasm	Ocular Melanoma
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	565850	\N	\N	EFO	2	EFO	neoplasm	Ocular Melanoma
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	565851	\N	\N	EFO	2	EFO	eye disease	Ocular Melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	1147164	\N	\N	EFO	3	EFO	cancer	Ocular Melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	1147165	\N	\N	EFO	3	EFO	epithelial neoplasm	Ocular Melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	1147166	\N	\N	EFO	3	EFO	neoplasm	Ocular Melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	1147167	\N	\N	EFO	3	EFO	skin disease	Ocular Melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	3180406	\N	\N	EFO	5	EFO	disease	Ocular Melanoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	1147169	\N	\N	EFO	3	EFO	disease	Ocular Melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	2029509	\N	\N	EFO	4	EFO	neoplasm	Ocular Melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	2029510	\N	\N	EFO	4	EFO	neoplasm	Ocular Melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	2029512	\N	\N	EFO	4	EFO	disease	Ocular Melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	4066766	\N	\N	EFO	6	EFO	disposition	Ocular Melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	5059444	\N	\N	EFO	7	EFO	material property	Ocular Melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000403	"A melanoma that arises from the structures of the eye or ocular adnexa." []	5876612	\N	\N	EFO	8	EFO	experimental factor	Ocular Melanoma
EFO:1000404	\N	\N	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	70001	\N	\N	EFO	0	EFO	Ocular Melanoma with Extraocular Extension	Ocular Melanoma with Extraocular Extension
EFO:0000756	EFO:1000404	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	212312	\N	\N	EFO	1	EFO	melanoma	Ocular Melanoma with Extraocular Extension
EFO:0003824	EFO:1000404	\N	"Tumors or cancer of the EYE." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	212313	\N	\N	EFO	1	EFO	eye neoplasm	Ocular Melanoma with Extraocular Extension
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	565852	\N	\N	EFO	2	EFO	carcinoma	Ocular Melanoma with Extraocular Extension
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	565853	\N	\N	EFO	2	EFO	skin neoplasm	Ocular Melanoma with Extraocular Extension
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	565854	\N	\N	EFO	2	EFO	neoplasm	Ocular Melanoma with Extraocular Extension
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	565855	\N	\N	EFO	2	EFO	eye disease	Ocular Melanoma with Extraocular Extension
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	1147170	\N	\N	EFO	3	EFO	cancer	Ocular Melanoma with Extraocular Extension
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	1147171	\N	\N	EFO	3	EFO	epithelial neoplasm	Ocular Melanoma with Extraocular Extension
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	1147172	\N	\N	EFO	3	EFO	neoplasm	Ocular Melanoma with Extraocular Extension
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	1147173	\N	\N	EFO	3	EFO	skin disease	Ocular Melanoma with Extraocular Extension
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	3180408	\N	\N	EFO	5	EFO	disease	Ocular Melanoma with Extraocular Extension
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	1147175	\N	\N	EFO	3	EFO	disease	Ocular Melanoma with Extraocular Extension
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	2029514	\N	\N	EFO	4	EFO	neoplasm	Ocular Melanoma with Extraocular Extension
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	2029515	\N	\N	EFO	4	EFO	neoplasm	Ocular Melanoma with Extraocular Extension
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	2029517	\N	\N	EFO	4	EFO	disease	Ocular Melanoma with Extraocular Extension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	4066767	\N	\N	EFO	6	EFO	disposition	Ocular Melanoma with Extraocular Extension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	5059445	\N	\N	EFO	7	EFO	material property	Ocular Melanoma with Extraocular Extension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000404	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" []	5876613	\N	\N	EFO	8	EFO	experimental factor	Ocular Melanoma with Extraocular Extension
EFO:1000405	\N	\N	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	70002	\N	\N	EFO	0	EFO	Ocular Sebaceous Carcinoma	Ocular Sebaceous Carcinoma
EFO:0000228	EFO:1000405	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	212314	\N	\N	EFO	1	EFO	adenocarcinoma	Ocular Sebaceous Carcinoma
EFO:0003824	EFO:1000405	\N	"Tumors or cancer of the EYE." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	212315	\N	\N	EFO	1	EFO	eye neoplasm	Ocular Sebaceous Carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	565856	\N	\N	EFO	2	EFO	carcinoma	Ocular Sebaceous Carcinoma
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	565857	\N	\N	EFO	2	EFO	neoplasm	Ocular Sebaceous Carcinoma
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	565858	\N	\N	EFO	2	EFO	eye disease	Ocular Sebaceous Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	1147176	\N	\N	EFO	3	EFO	cancer	Ocular Sebaceous Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	1147177	\N	\N	EFO	3	EFO	epithelial neoplasm	Ocular Sebaceous Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	3180410	\N	\N	EFO	5	EFO	disease	Ocular Sebaceous Carcinoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	1147179	\N	\N	EFO	3	EFO	disease	Ocular Sebaceous Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	2029519	\N	\N	EFO	4	EFO	neoplasm	Ocular Sebaceous Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	2029520	\N	\N	EFO	4	EFO	neoplasm	Ocular Sebaceous Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	4066768	\N	\N	EFO	6	EFO	disposition	Ocular Sebaceous Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	5059446	\N	\N	EFO	7	EFO	material property	Ocular Sebaceous Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000405	"Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." []	5876614	\N	\N	EFO	8	EFO	experimental factor	Ocular Sebaceous Carcinoma
EFO:1000406	\N	\N	"a group of jaw cysts that are formed from tissues involved in odontogenesis (tooth development). Odontogenic cysts are closed sacs, and have a distinct membrane derived from rests of odontogenic epithelium. It may contain air, fluids, or semi-solid material. Intra-bony cysts are most common in the jaws, because the mandible and maxilla are the only bones with epithelial components. That odontogenic epithelium is critical in normal tooth development. However, epithelial rests may be the origin for the cyst lining later. Not all oral cysts are odontogenic cyst." []	EFO:1000406	"a group of jaw cysts that are formed from tissues involved in odontogenesis (tooth development). Odontogenic cysts are closed sacs, and have a distinct membrane derived from rests of odontogenic epithelium. It may contain air, fluids, or semi-solid material. Intra-bony cysts are most common in the jaws, because the mandible and maxilla are the only bones with epithelial components. That odontogenic epithelium is critical in normal tooth development. However, epithelial rests may be the origin for the cyst lining later. Not all oral cysts are odontogenic cyst." []	70003	\N	\N	EFO	0	EFO	Odontogenic Cyst	Odontogenic Cyst
EFO:0000616	EFO:1000406	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000406	"a group of jaw cysts that are formed from tissues involved in odontogenesis (tooth development). Odontogenic cysts are closed sacs, and have a distinct membrane derived from rests of odontogenic epithelium. It may contain air, fluids, or semi-solid material. Intra-bony cysts are most common in the jaws, because the mandible and maxilla are the only bones with epithelial components. That odontogenic epithelium is critical in normal tooth development. However, epithelial rests may be the origin for the cyst lining later. Not all oral cysts are odontogenic cyst." []	212316	\N	\N	EFO	1	EFO	neoplasm	Odontogenic Cyst
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000406	"a group of jaw cysts that are formed from tissues involved in odontogenesis (tooth development). Odontogenic cysts are closed sacs, and have a distinct membrane derived from rests of odontogenic epithelium. It may contain air, fluids, or semi-solid material. Intra-bony cysts are most common in the jaws, because the mandible and maxilla are the only bones with epithelial components. That odontogenic epithelium is critical in normal tooth development. However, epithelial rests may be the origin for the cyst lining later. Not all oral cysts are odontogenic cyst." []	565859	\N	\N	EFO	2	EFO	disease	Odontogenic Cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000406	"a group of jaw cysts that are formed from tissues involved in odontogenesis (tooth development). Odontogenic cysts are closed sacs, and have a distinct membrane derived from rests of odontogenic epithelium. It may contain air, fluids, or semi-solid material. Intra-bony cysts are most common in the jaws, because the mandible and maxilla are the only bones with epithelial components. That odontogenic epithelium is critical in normal tooth development. However, epithelial rests may be the origin for the cyst lining later. Not all oral cysts are odontogenic cyst." []	1147180	\N	\N	EFO	3	EFO	disposition	Odontogenic Cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000406	"a group of jaw cysts that are formed from tissues involved in odontogenesis (tooth development). Odontogenic cysts are closed sacs, and have a distinct membrane derived from rests of odontogenic epithelium. It may contain air, fluids, or semi-solid material. Intra-bony cysts are most common in the jaws, because the mandible and maxilla are the only bones with epithelial components. That odontogenic epithelium is critical in normal tooth development. However, epithelial rests may be the origin for the cyst lining later. Not all oral cysts are odontogenic cyst." []	2029522	\N	\N	EFO	4	EFO	material property	Odontogenic Cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000406	"a group of jaw cysts that are formed from tissues involved in odontogenesis (tooth development). Odontogenic cysts are closed sacs, and have a distinct membrane derived from rests of odontogenic epithelium. It may contain air, fluids, or semi-solid material. Intra-bony cysts are most common in the jaws, because the mandible and maxilla are the only bones with epithelial components. That odontogenic epithelium is critical in normal tooth development. However, epithelial rests may be the origin for the cyst lining later. Not all oral cysts are odontogenic cyst." []	3180412	\N	\N	EFO	5	EFO	experimental factor	Odontogenic Cyst
EFO:1000407	\N	\N	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	70004	\N	\N	EFO	0	EFO	Olfactory Neuroblastoma	Olfactory Neuroblastoma
EFO:0000621	EFO:1000407	\N	"A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	212317	\N	\N	EFO	1	EFO	neuroblastoma	Olfactory Neuroblastoma
EFO:0003853	EFO:1000407	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	212318	\N	\N	EFO	1	EFO	respiratory system neoplasm	Olfactory Neuroblastoma
EFO:0005950	EFO:1000407	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	212319	\N	\N	EFO	1	EFO	head and neck neoplasia	Olfactory Neuroblastoma
EFO:0000616	EFO:0000621	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	565860	\N	\N	EFO	2	EFO	neoplasm	Olfactory Neuroblastoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	565861	\N	\N	EFO	2	EFO	neoplasm	Olfactory Neuroblastoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	565862	\N	\N	EFO	2	EFO	respiratory system disease	Olfactory Neuroblastoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	565863	\N	\N	EFO	2	EFO	head disease	Olfactory Neuroblastoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	565864	\N	\N	EFO	2	EFO	neoplasm	Olfactory Neuroblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	1147181	\N	\N	EFO	3	EFO	disease	Olfactory Neuroblastoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	1147182	\N	\N	EFO	3	EFO	disease	Olfactory Neuroblastoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	1147183	\N	\N	EFO	3	EFO	disease	Olfactory Neuroblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	2029523	\N	\N	EFO	4	EFO	disposition	Olfactory Neuroblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	3180413	\N	\N	EFO	5	EFO	material property	Olfactory Neuroblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000407	"A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." []	4389185	\N	\N	EFO	6	EFO	experimental factor	Olfactory Neuroblastoma
EFO:1000408	\N	\N	"A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." []	EFO:1000408	"A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." []	70005	\N	\N	EFO	0	EFO	Ossifying Fibromyxoid Tumor	Ossifying Fibromyxoid Tumor
EFO:0000616	EFO:1000408	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000408	"A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." []	212320	\N	\N	EFO	1	EFO	neoplasm	Ossifying Fibromyxoid Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000408	"A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." []	565865	\N	\N	EFO	2	EFO	disease	Ossifying Fibromyxoid Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000408	"A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." []	1147184	\N	\N	EFO	3	EFO	disposition	Ossifying Fibromyxoid Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000408	"A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." []	2029524	\N	\N	EFO	4	EFO	material property	Ossifying Fibromyxoid Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000408	"A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." []	3180414	\N	\N	EFO	5	EFO	experimental factor	Ossifying Fibromyxoid Tumor
EFO:1000409	\N	\N	"A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells." []	EFO:1000409	"A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells." []	70006	\N	\N	EFO	0	EFO	Ossifying Renal Tumor of Infancy	Ossifying Renal Tumor of Infancy
EFO:0003865	EFO:1000409	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000409	"A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells." []	212321	\N	\N	EFO	1	EFO	kidney neoplasm	Ossifying Renal Tumor of Infancy
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000409	"A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells." []	565866	\N	\N	EFO	2	EFO	kidney disease	Ossifying Renal Tumor of Infancy
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000409	"A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells." []	565867	\N	\N	EFO	2	EFO	urogenital neoplasm	Ossifying Renal Tumor of Infancy
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000409	"A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells." []	1147185	\N	\N	EFO	3	EFO	disease	Ossifying Renal Tumor of Infancy
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000409	"A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells." []	1147186	\N	\N	EFO	3	EFO	neoplasm	Ossifying Renal Tumor of Infancy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000409	"A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells." []	3180416	\N	\N	EFO	5	EFO	disposition	Ossifying Renal Tumor of Infancy
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000409	"A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells." []	2029526	\N	\N	EFO	4	EFO	disease	Ossifying Renal Tumor of Infancy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000409	"A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells." []	4132953	\N	\N	EFO	6	EFO	material property	Ossifying Renal Tumor of Infancy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000409	"A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells." []	5181221	\N	\N	EFO	7	EFO	experimental factor	Ossifying Renal Tumor of Infancy
EFO:1000410	\N	\N	"A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." []	EFO:1000410	"A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." []	70007	\N	\N	EFO	0	EFO	Osteoblastoma	Osteoblastoma
EFO:0003820	EFO:1000410	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1000410	"A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." []	212322	\N	\N	EFO	1	EFO	bone neoplasm	Osteoblastoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000410	"A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." []	565868	\N	\N	EFO	2	EFO	neoplasm	Osteoblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000410	"A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." []	1147187	\N	\N	EFO	3	EFO	disease	Osteoblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000410	"A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." []	2029527	\N	\N	EFO	4	EFO	disposition	Osteoblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000410	"A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." []	3180417	\N	\N	EFO	5	EFO	material property	Osteoblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000410	"A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." []	4389187	\N	\N	EFO	6	EFO	experimental factor	Osteoblastoma
EFO:1000411	\N	\N	"A common, benign cartiliginous neoplasm arising from the metaphysis of bone. The tumor grows on the surface of the bone; it may be pedunculated or sessile. It is characterized by the presence of chondrocytes, a cartilage cap, and a fibrous perichondrium that extends to the periosteum of the bone. In some cases, there is deletion of 8q24.1 chromosome locus." []	EFO:1000411	"A common, benign cartiliginous neoplasm arising from the metaphysis of bone. The tumor grows on the surface of the bone; it may be pedunculated or sessile. It is characterized by the presence of chondrocytes, a cartilage cap, and a fibrous perichondrium that extends to the periosteum of the bone. In some cases, there is deletion of 8q24.1 chromosome locus." []	70008	\N	\N	EFO	0	EFO	Osteochondroma	Osteochondroma
EFO:0003820	EFO:1000411	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1000411	"A common, benign cartiliginous neoplasm arising from the metaphysis of bone. The tumor grows on the surface of the bone; it may be pedunculated or sessile. It is characterized by the presence of chondrocytes, a cartilage cap, and a fibrous perichondrium that extends to the periosteum of the bone. In some cases, there is deletion of 8q24.1 chromosome locus." []	212323	\N	\N	EFO	1	EFO	bone neoplasm	Osteochondroma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000411	"A common, benign cartiliginous neoplasm arising from the metaphysis of bone. The tumor grows on the surface of the bone; it may be pedunculated or sessile. It is characterized by the presence of chondrocytes, a cartilage cap, and a fibrous perichondrium that extends to the periosteum of the bone. In some cases, there is deletion of 8q24.1 chromosome locus." []	565869	\N	\N	EFO	2	EFO	neoplasm	Osteochondroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000411	"A common, benign cartiliginous neoplasm arising from the metaphysis of bone. The tumor grows on the surface of the bone; it may be pedunculated or sessile. It is characterized by the presence of chondrocytes, a cartilage cap, and a fibrous perichondrium that extends to the periosteum of the bone. In some cases, there is deletion of 8q24.1 chromosome locus." []	1147188	\N	\N	EFO	3	EFO	disease	Osteochondroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000411	"A common, benign cartiliginous neoplasm arising from the metaphysis of bone. The tumor grows on the surface of the bone; it may be pedunculated or sessile. It is characterized by the presence of chondrocytes, a cartilage cap, and a fibrous perichondrium that extends to the periosteum of the bone. In some cases, there is deletion of 8q24.1 chromosome locus." []	2029528	\N	\N	EFO	4	EFO	disposition	Osteochondroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000411	"A common, benign cartiliginous neoplasm arising from the metaphysis of bone. The tumor grows on the surface of the bone; it may be pedunculated or sessile. It is characterized by the presence of chondrocytes, a cartilage cap, and a fibrous perichondrium that extends to the periosteum of the bone. In some cases, there is deletion of 8q24.1 chromosome locus." []	3180418	\N	\N	EFO	5	EFO	material property	Osteochondroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000411	"A common, benign cartiliginous neoplasm arising from the metaphysis of bone. The tumor grows on the surface of the bone; it may be pedunculated or sessile. It is characterized by the presence of chondrocytes, a cartilage cap, and a fibrous perichondrium that extends to the periosteum of the bone. In some cases, there is deletion of 8q24.1 chromosome locus." []	4389188	\N	\N	EFO	6	EFO	experimental factor	Osteochondroma
EFO:1000412	\N	\N	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	70009	\N	\N	EFO	0	EFO	Ovarian Carcinosarcoma	Ovarian Carcinosarcoma
EFO:0001075	EFO:1000412	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	212324	\N	\N	EFO	1	EFO	ovarian carcinoma	Ovarian Carcinosarcoma
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	565870	\N	\N	EFO	2	EFO	carcinoma	Ovarian Carcinosarcoma
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	565871	\N	\N	EFO	2	EFO	ovarian neoplasm	Ovarian Carcinosarcoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	1147189	\N	\N	EFO	3	EFO	cancer	Ovarian Carcinosarcoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	1147190	\N	\N	EFO	3	EFO	epithelial neoplasm	Ovarian Carcinosarcoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	1147191	\N	\N	EFO	3	EFO	urogenital neoplasm	Ovarian Carcinosarcoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	1147192	\N	\N	EFO	3	EFO	ovarian disease	Ovarian Carcinosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	2029529	\N	\N	EFO	4	EFO	neoplasm	Ovarian Carcinosarcoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	2029530	\N	\N	EFO	4	EFO	neoplasm	Ovarian Carcinosarcoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	2029531	\N	\N	EFO	4	EFO	neoplasm	Ovarian Carcinosarcoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	2029532	\N	\N	EFO	4	EFO	reproductive system disease	Ovarian Carcinosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	3180419	\N	\N	EFO	5	EFO	disease	Ovarian Carcinosarcoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	3180420	\N	\N	EFO	5	EFO	disease	Ovarian Carcinosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	4389189	\N	\N	EFO	6	EFO	disposition	Ovarian Carcinosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	5409175	\N	\N	EFO	7	EFO	material property	Ovarian Carcinosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000412	"A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." []	6147591	\N	\N	EFO	8	EFO	experimental factor	Ovarian Carcinosarcoma
EFO:1000413	\N	\N	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	70010	\N	\N	EFO	0	EFO	Ovarian Choriocarcinoma	Ovarian Choriocarcinoma
EFO:0002893	EFO:1000413	\N	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	212325	\N	\N	EFO	1	EFO	choriocarcinoma	Ovarian Choriocarcinoma
EFO:0003893	EFO:1000413	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	212326	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Choriocarcinoma
EFO:0000514	EFO:0002893	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	565872	\N	\N	EFO	2	EFO	germ cell tumor	Ovarian Choriocarcinoma
EFO:0003859	EFO:0002893	\N	"Tumors or cancer of the UTERUS." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	565873	\N	\N	EFO	2	EFO	uterine neoplasm	Ovarian Choriocarcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	565874	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Choriocarcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	565875	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Choriocarcinoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	1147193	\N	\N	EFO	3	EFO	neoplasm	Ovarian Choriocarcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	1147194	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Choriocarcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	1147195	\N	\N	EFO	3	EFO	urogenital neoplasm	Ovarian Choriocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	2029535	\N	\N	EFO	4	EFO	neoplasm	Ovarian Choriocarcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	1147197	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Choriocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	2999990	\N	\N	EFO	5	EFO	disease	Ovarian Choriocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	2029534	\N	\N	EFO	4	EFO	disease	Ovarian Choriocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	4132954	\N	\N	EFO	6	EFO	disposition	Ovarian Choriocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	5181222	\N	\N	EFO	7	EFO	material property	Ovarian Choriocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000413	"A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." []	5996705	\N	\N	EFO	8	EFO	experimental factor	Ovarian Choriocarcinoma
EFO:1000414	\N	\N	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	70011	\N	\N	EFO	0	EFO	Ovarian Dysgerminoma	Ovarian Dysgerminoma
EFO:0000514	EFO:1000414	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	212327	\N	\N	EFO	1	EFO	germ cell tumor	Ovarian Dysgerminoma
EFO:0003893	EFO:1000414	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	212328	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Dysgerminoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	565876	\N	\N	EFO	2	EFO	neoplasm	Ovarian Dysgerminoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	565877	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Dysgerminoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	565878	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Dysgerminoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	2029537	\N	\N	EFO	4	EFO	disease	Ovarian Dysgerminoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	1147199	\N	\N	EFO	3	EFO	neoplasm	Ovarian Dysgerminoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	1147200	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Dysgerminoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	2999991	\N	\N	EFO	5	EFO	disposition	Ovarian Dysgerminoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	2029538	\N	\N	EFO	4	EFO	disease	Ovarian Dysgerminoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	4132955	\N	\N	EFO	6	EFO	material property	Ovarian Dysgerminoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000414	"A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." []	5181223	\N	\N	EFO	7	EFO	experimental factor	Ovarian Dysgerminoma
EFO:1000415	\N	\N	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	70012	\N	\N	EFO	0	EFO	Ovarian Embryonal Carcinoma	Ovarian Embryonal Carcinoma
EFO:0000514	EFO:1000415	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	212329	\N	\N	EFO	1	EFO	germ cell tumor	Ovarian Embryonal Carcinoma
EFO:0003893	EFO:1000415	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	212330	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Embryonal Carcinoma
EFO:0004986	EFO:1000415	\N	"Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	212331	\N	\N	EFO	1	EFO	embryonal carcinoma	Ovarian Embryonal Carcinoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	565879	\N	\N	EFO	2	EFO	neoplasm	Ovarian Embryonal Carcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	565880	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Embryonal Carcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	565881	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Embryonal Carcinoma
EFO:0000313	EFO:0004986	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	565882	\N	\N	EFO	2	EFO	carcinoma	Ovarian Embryonal Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	3180424	\N	\N	EFO	5	EFO	disease	Ovarian Embryonal Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	1147202	\N	\N	EFO	3	EFO	neoplasm	Ovarian Embryonal Carcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	1147203	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Embryonal Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	1147204	\N	\N	EFO	3	EFO	cancer	Ovarian Embryonal Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	1147205	\N	\N	EFO	3	EFO	epithelial neoplasm	Ovarian Embryonal Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	4066769	\N	\N	EFO	6	EFO	disposition	Ovarian Embryonal Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	2029541	\N	\N	EFO	4	EFO	disease	Ovarian Embryonal Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	2029542	\N	\N	EFO	4	EFO	neoplasm	Ovarian Embryonal Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	2029543	\N	\N	EFO	4	EFO	neoplasm	Ovarian Embryonal Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	5059447	\N	\N	EFO	7	EFO	material property	Ovarian Embryonal Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000415	"An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." []	5876615	\N	\N	EFO	8	EFO	experimental factor	Ovarian Embryonal Carcinoma
EFO:1000416	\N	\N	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	70013	\N	\N	EFO	0	EFO	Ovarian Endometrioid Adenocarcinoma	Ovarian Endometrioid Adenocarcinoma
EFO:0005232	EFO:1000416	\N	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	212332	\N	\N	EFO	1	EFO	endometrium adenocarcinoma	Ovarian Endometrioid Adenocarcinoma
EFO:0006460	EFO:1000416	\N	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	212333	\N	\N	EFO	1	EFO	ovarian adenocarcinoma	Ovarian Endometrioid Adenocarcinoma
EFO:0000228	EFO:0005232	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	565883	\N	\N	EFO	2	EFO	adenocarcinoma	Ovarian Endometrioid Adenocarcinoma
EFO:1001512	EFO:0005232	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	565884	\N	\N	EFO	2	EFO	endometrial carcinoma	Ovarian Endometrioid Adenocarcinoma
EFO:0000228	EFO:0006460	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	565885	\N	\N	EFO	2	EFO	adenocarcinoma	Ovarian Endometrioid Adenocarcinoma
EFO:0001075	EFO:0006460	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	565886	\N	\N	EFO	2	EFO	ovarian carcinoma	Ovarian Endometrioid Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	1147206	\N	\N	EFO	3	EFO	carcinoma	Ovarian Endometrioid Adenocarcinoma
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	1147207	\N	\N	EFO	3	EFO	carcinoma	Ovarian Endometrioid Adenocarcinoma
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	1147208	\N	\N	EFO	3	EFO	endometrial neoplasm	Ovarian Endometrioid Adenocarcinoma
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	1147209	\N	\N	EFO	3	EFO	carcinoma	Ovarian Endometrioid Adenocarcinoma
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	1147210	\N	\N	EFO	3	EFO	ovarian neoplasm	Ovarian Endometrioid Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	2029544	\N	\N	EFO	4	EFO	cancer	Ovarian Endometrioid Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	2029545	\N	\N	EFO	4	EFO	epithelial neoplasm	Ovarian Endometrioid Adenocarcinoma
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	2029546	\N	\N	EFO	4	EFO	uterine neoplasm	Ovarian Endometrioid Adenocarcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	2029547	\N	\N	EFO	4	EFO	urogenital neoplasm	Ovarian Endometrioid Adenocarcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	2029548	\N	\N	EFO	4	EFO	ovarian disease	Ovarian Endometrioid Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	3180425	\N	\N	EFO	5	EFO	neoplasm	Ovarian Endometrioid Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	3180426	\N	\N	EFO	5	EFO	neoplasm	Ovarian Endometrioid Adenocarcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	3180427	\N	\N	EFO	5	EFO	reproductive system disease	Ovarian Endometrioid Adenocarcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	3180428	\N	\N	EFO	5	EFO	urogenital neoplasm	Ovarian Endometrioid Adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	4389195	\N	\N	EFO	6	EFO	neoplasm	Ovarian Endometrioid Adenocarcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	3180430	\N	\N	EFO	5	EFO	reproductive system disease	Ovarian Endometrioid Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	5181225	\N	\N	EFO	7	EFO	disease	Ovarian Endometrioid Adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	4389194	\N	\N	EFO	6	EFO	disease	Ovarian Endometrioid Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	5996706	\N	\N	EFO	8	EFO	disposition	Ovarian Endometrioid Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	6550403	\N	\N	EFO	9	EFO	material property	Ovarian Endometrioid Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000416	"An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." []	6888980	\N	\N	EFO	10	EFO	experimental factor	Ovarian Endometrioid Adenocarcinoma
EFO:1000417	\N	\N	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	70014	\N	\N	EFO	0	EFO	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0005232	EFO:1000417	\N	"An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	212334	\N	\N	EFO	1	EFO	endometrium adenocarcinoma	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0006460	EFO:1000417	\N	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	212335	\N	\N	EFO	1	EFO	ovarian adenocarcinoma	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000228	EFO:0005232	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	565887	\N	\N	EFO	2	EFO	adenocarcinoma	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:1001512	EFO:0005232	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	565888	\N	\N	EFO	2	EFO	endometrial carcinoma	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000228	EFO:0006460	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	565889	\N	\N	EFO	2	EFO	adenocarcinoma	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0001075	EFO:0006460	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	565890	\N	\N	EFO	2	EFO	ovarian carcinoma	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	1147211	\N	\N	EFO	3	EFO	carcinoma	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	1147212	\N	\N	EFO	3	EFO	carcinoma	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	1147213	\N	\N	EFO	3	EFO	endometrial neoplasm	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	1147214	\N	\N	EFO	3	EFO	carcinoma	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	1147215	\N	\N	EFO	3	EFO	ovarian neoplasm	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	2029549	\N	\N	EFO	4	EFO	cancer	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	2029550	\N	\N	EFO	4	EFO	epithelial neoplasm	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	2029551	\N	\N	EFO	4	EFO	uterine neoplasm	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	2029552	\N	\N	EFO	4	EFO	urogenital neoplasm	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	2029553	\N	\N	EFO	4	EFO	ovarian disease	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	3180431	\N	\N	EFO	5	EFO	neoplasm	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	3180432	\N	\N	EFO	5	EFO	neoplasm	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	3180433	\N	\N	EFO	5	EFO	reproductive system disease	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	3180434	\N	\N	EFO	5	EFO	urogenital neoplasm	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	4389198	\N	\N	EFO	6	EFO	neoplasm	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	3180436	\N	\N	EFO	5	EFO	reproductive system disease	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	5181226	\N	\N	EFO	7	EFO	disease	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	4389197	\N	\N	EFO	6	EFO	disease	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	5996707	\N	\N	EFO	8	EFO	disposition	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	6550404	\N	\N	EFO	9	EFO	material property	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000417	"An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." []	6888981	\N	\N	EFO	10	EFO	experimental factor	Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
EFO:1000418	\N	\N	"A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." []	EFO:1000418	"A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." []	70015	\N	\N	EFO	0	EFO	Ovarian Endometriosis	Ovarian Endometriosis
EFO:0001065	EFO:1000418	\N	"The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." []	EFO:1000418	"A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." []	212336	\N	\N	EFO	1	EFO	endometriosis	Ovarian Endometriosis
EFO:0005771	EFO:1000418	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000418	"A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." []	212337	\N	\N	EFO	1	EFO	ovarian disease	Ovarian Endometriosis
EFO:0000512	EFO:0001065	\N	"any diease of the reproductive system" []	EFO:1000418	"A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." []	565891	\N	\N	EFO	2	EFO	reproductive system disease	Ovarian Endometriosis
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000418	"A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." []	565892	\N	\N	EFO	2	EFO	reproductive system disease	Ovarian Endometriosis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000418	"A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." []	1147216	\N	\N	EFO	3	EFO	disease	Ovarian Endometriosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000418	"A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." []	2029554	\N	\N	EFO	4	EFO	disposition	Ovarian Endometriosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000418	"A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." []	3180437	\N	\N	EFO	5	EFO	material property	Ovarian Endometriosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000418	"A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." []	4389199	\N	\N	EFO	6	EFO	experimental factor	Ovarian Endometriosis
EFO:1000419	\N	\N	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	70016	\N	\N	EFO	0	EFO	Ovarian Germ Cell Tumor	Ovarian Germ Cell Tumor
EFO:0000514	EFO:1000419	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	212338	\N	\N	EFO	1	EFO	germ cell tumor	Ovarian Germ Cell Tumor
EFO:0003893	EFO:1000419	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	212339	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Germ Cell Tumor
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	565893	\N	\N	EFO	2	EFO	neoplasm	Ovarian Germ Cell Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	565894	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Germ Cell Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	565895	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Germ Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	2029556	\N	\N	EFO	4	EFO	disease	Ovarian Germ Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	1147218	\N	\N	EFO	3	EFO	neoplasm	Ovarian Germ Cell Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	1147219	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Germ Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	2999993	\N	\N	EFO	5	EFO	disposition	Ovarian Germ Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	2029557	\N	\N	EFO	4	EFO	disease	Ovarian Germ Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	4132957	\N	\N	EFO	6	EFO	material property	Ovarian Germ Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000419	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	5181227	\N	\N	EFO	7	EFO	experimental factor	Ovarian Germ Cell Tumor
EFO:1000420	\N	\N	"A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." []	EFO:1000420	"A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." []	70017	\N	\N	EFO	0	EFO	Ovarian Gonadoblastoma	Ovarian Gonadoblastoma
EFO:0003893	EFO:1000420	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000420	"A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." []	212340	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Gonadoblastoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000420	"A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." []	565896	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Gonadoblastoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000420	"A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." []	565897	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Gonadoblastoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000420	"A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." []	1147220	\N	\N	EFO	3	EFO	neoplasm	Ovarian Gonadoblastoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000420	"A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." []	1147221	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Gonadoblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000420	"A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." []	2029558	\N	\N	EFO	4	EFO	disease	Ovarian Gonadoblastoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000420	"A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." []	2029559	\N	\N	EFO	4	EFO	disease	Ovarian Gonadoblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000420	"A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." []	3180439	\N	\N	EFO	5	EFO	disposition	Ovarian Gonadoblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000420	"A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." []	4389201	\N	\N	EFO	6	EFO	material property	Ovarian Gonadoblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000420	"A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." []	5409179	\N	\N	EFO	7	EFO	experimental factor	Ovarian Gonadoblastoma
EFO:1000421	\N	\N	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	EFO:1000421	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	70018	\N	\N	EFO	0	EFO	Ovarian Granulosa Cell Tumor	Ovarian Granulosa Cell Tumor
EFO:0003893	EFO:1000421	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000421	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	212341	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Granulosa Cell Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000421	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	565898	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Granulosa Cell Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000421	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	565899	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Granulosa Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000421	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	1147222	\N	\N	EFO	3	EFO	neoplasm	Ovarian Granulosa Cell Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000421	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	1147223	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Granulosa Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000421	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	2029560	\N	\N	EFO	4	EFO	disease	Ovarian Granulosa Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000421	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	2029561	\N	\N	EFO	4	EFO	disease	Ovarian Granulosa Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000421	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	3180440	\N	\N	EFO	5	EFO	disposition	Ovarian Granulosa Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000421	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	4389202	\N	\N	EFO	6	EFO	material property	Ovarian Granulosa Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000421	"A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." []	5409180	\N	\N	EFO	7	EFO	experimental factor	Ovarian Granulosa Cell Tumor
EFO:1000422	\N	\N	"A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." []	EFO:1000422	"A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." []	70019	\N	\N	EFO	0	EFO	Ovarian Gynandroblastoma	Ovarian Gynandroblastoma
EFO:0003893	EFO:1000422	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000422	"A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." []	212342	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Gynandroblastoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000422	"A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." []	565900	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Gynandroblastoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000422	"A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." []	565901	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Gynandroblastoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000422	"A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." []	1147224	\N	\N	EFO	3	EFO	neoplasm	Ovarian Gynandroblastoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000422	"A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." []	1147225	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Gynandroblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000422	"A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." []	2029562	\N	\N	EFO	4	EFO	disease	Ovarian Gynandroblastoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000422	"A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." []	2029563	\N	\N	EFO	4	EFO	disease	Ovarian Gynandroblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000422	"A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." []	3180441	\N	\N	EFO	5	EFO	disposition	Ovarian Gynandroblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000422	"A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." []	4389203	\N	\N	EFO	6	EFO	material property	Ovarian Gynandroblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000422	"A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." []	5409181	\N	\N	EFO	7	EFO	experimental factor	Ovarian Gynandroblastoma
EFO:1000423	\N	\N	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	70020	\N	\N	EFO	0	EFO	Ovarian Leydig Cell Tumor	Ovarian Leydig Cell Tumor
EFO:0003769	EFO:1000423	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	212343	\N	\N	EFO	1	EFO	endocrine neoplasm	Ovarian Leydig Cell Tumor
EFO:0003893	EFO:1000423	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	212344	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Leydig Cell Tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	565902	\N	\N	EFO	2	EFO	neoplasm	Ovarian Leydig Cell Tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	565903	\N	\N	EFO	2	EFO	endocrine system disease	Ovarian Leydig Cell Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	565904	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Leydig Cell Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	565905	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Leydig Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	2029565	\N	\N	EFO	4	EFO	disease	Ovarian Leydig Cell Tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	1147227	\N	\N	EFO	3	EFO	disease	Ovarian Leydig Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	1147228	\N	\N	EFO	3	EFO	neoplasm	Ovarian Leydig Cell Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	1147229	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Leydig Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	2999994	\N	\N	EFO	5	EFO	disposition	Ovarian Leydig Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	2029566	\N	\N	EFO	4	EFO	disease	Ovarian Leydig Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	4132958	\N	\N	EFO	6	EFO	material property	Ovarian Leydig Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000423	"A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations." []	5181228	\N	\N	EFO	7	EFO	experimental factor	Ovarian Leydig Cell Tumor
EFO:1000424	\N	\N	"A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." []	EFO:1000424	"A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." []	70021	\N	\N	EFO	0	EFO	Ovarian Microcystic Stromal Tumor	Ovarian Microcystic Stromal Tumor
EFO:0003893	EFO:1000424	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000424	"A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." []	212345	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Microcystic Stromal Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000424	"A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." []	565906	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Microcystic Stromal Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000424	"A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." []	565907	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Microcystic Stromal Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000424	"A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." []	1147230	\N	\N	EFO	3	EFO	neoplasm	Ovarian Microcystic Stromal Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000424	"A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." []	1147231	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Microcystic Stromal Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000424	"A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." []	2029567	\N	\N	EFO	4	EFO	disease	Ovarian Microcystic Stromal Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000424	"A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." []	2029568	\N	\N	EFO	4	EFO	disease	Ovarian Microcystic Stromal Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000424	"A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." []	3180443	\N	\N	EFO	5	EFO	disposition	Ovarian Microcystic Stromal Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000424	"A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." []	4389205	\N	\N	EFO	6	EFO	material property	Ovarian Microcystic Stromal Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000424	"A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." []	5409182	\N	\N	EFO	7	EFO	experimental factor	Ovarian Microcystic Stromal Tumor
EFO:1000425	\N	\N	"A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." []	EFO:1000425	"A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." []	70022	\N	\N	EFO	0	EFO	Ovarian Mixed Epithelial Tumor	Ovarian Mixed Epithelial Tumor
EFO:0003893	EFO:1000425	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000425	"A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." []	212346	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Mixed Epithelial Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000425	"A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." []	565908	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Mixed Epithelial Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000425	"A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." []	565909	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Mixed Epithelial Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000425	"A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." []	1147232	\N	\N	EFO	3	EFO	neoplasm	Ovarian Mixed Epithelial Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000425	"A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." []	1147233	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Mixed Epithelial Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000425	"A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." []	2029569	\N	\N	EFO	4	EFO	disease	Ovarian Mixed Epithelial Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000425	"A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." []	2029570	\N	\N	EFO	4	EFO	disease	Ovarian Mixed Epithelial Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000425	"A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." []	3180444	\N	\N	EFO	5	EFO	disposition	Ovarian Mixed Epithelial Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000425	"A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." []	4389206	\N	\N	EFO	6	EFO	material property	Ovarian Mixed Epithelial Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000425	"A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." []	5409183	\N	\N	EFO	7	EFO	experimental factor	Ovarian Mixed Epithelial Tumor
EFO:1000426	\N	\N	"A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." []	EFO:1000426	"A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." []	70023	\N	\N	EFO	0	EFO	Ovarian Sclerosing Stromal Tumor	Ovarian Sclerosing Stromal Tumor
EFO:0003893	EFO:1000426	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000426	"A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." []	212347	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Sclerosing Stromal Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000426	"A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." []	565910	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Sclerosing Stromal Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000426	"A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." []	565911	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Sclerosing Stromal Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000426	"A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." []	1147234	\N	\N	EFO	3	EFO	neoplasm	Ovarian Sclerosing Stromal Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000426	"A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." []	1147235	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Sclerosing Stromal Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000426	"A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." []	2029571	\N	\N	EFO	4	EFO	disease	Ovarian Sclerosing Stromal Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000426	"A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." []	2029572	\N	\N	EFO	4	EFO	disease	Ovarian Sclerosing Stromal Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000426	"A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." []	3180445	\N	\N	EFO	5	EFO	disposition	Ovarian Sclerosing Stromal Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000426	"A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." []	4389207	\N	\N	EFO	6	EFO	material property	Ovarian Sclerosing Stromal Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000426	"A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities." []	5409184	\N	\N	EFO	7	EFO	experimental factor	Ovarian Sclerosing Stromal Tumor
EFO:1000427	\N	\N	"A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." []	EFO:1000427	"A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." []	70024	\N	\N	EFO	0	EFO	Ovarian Serous Adenocarcinofibroma	Ovarian Serous Adenocarcinofibroma
EFO:0003893	EFO:1000427	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000427	"A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." []	212348	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Serous Adenocarcinofibroma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000427	"A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." []	565912	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Serous Adenocarcinofibroma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000427	"A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." []	565913	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Serous Adenocarcinofibroma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000427	"A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." []	1147236	\N	\N	EFO	3	EFO	neoplasm	Ovarian Serous Adenocarcinofibroma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000427	"A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." []	1147237	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Serous Adenocarcinofibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000427	"A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." []	2029573	\N	\N	EFO	4	EFO	disease	Ovarian Serous Adenocarcinofibroma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000427	"A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." []	2029574	\N	\N	EFO	4	EFO	disease	Ovarian Serous Adenocarcinofibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000427	"A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." []	3180446	\N	\N	EFO	5	EFO	disposition	Ovarian Serous Adenocarcinofibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000427	"A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." []	4389208	\N	\N	EFO	6	EFO	material property	Ovarian Serous Adenocarcinofibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000427	"A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns." []	5409185	\N	\N	EFO	7	EFO	experimental factor	Ovarian Serous Adenocarcinofibroma
EFO:1000428	\N	\N	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	70025	\N	\N	EFO	0	EFO	Ovarian Serous Adenofibroma	Ovarian Serous Adenofibroma
EFO:0002424	EFO:1000428	\N	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	212349	\N	\N	EFO	1	EFO	fibroma	Ovarian Serous Adenofibroma
EFO:0003893	EFO:1000428	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	212350	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Serous Adenofibroma
EFO:0002422	EFO:0002424	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	565914	\N	\N	EFO	2	EFO	benign neoplasm	Ovarian Serous Adenofibroma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	565915	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Serous Adenofibroma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	565916	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Serous Adenofibroma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	1147238	\N	\N	EFO	3	EFO	neoplasm	Ovarian Serous Adenofibroma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	1147239	\N	\N	EFO	3	EFO	neoplasm	Ovarian Serous Adenofibroma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	1147240	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Serous Adenofibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	2029575	\N	\N	EFO	4	EFO	disease	Ovarian Serous Adenofibroma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	2029576	\N	\N	EFO	4	EFO	disease	Ovarian Serous Adenofibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	3180447	\N	\N	EFO	5	EFO	disposition	Ovarian Serous Adenofibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	4389209	\N	\N	EFO	6	EFO	material property	Ovarian Serous Adenofibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000428	"A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." []	5409186	\N	\N	EFO	7	EFO	experimental factor	Ovarian Serous Adenofibroma
EFO:1000429	\N	\N	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	70026	\N	\N	EFO	0	EFO	Ovarian Sertoli-Leydig Cell Tumor	Ovarian Sertoli-Leydig Cell Tumor
EFO:0003769	EFO:1000429	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	212351	\N	\N	EFO	1	EFO	endocrine neoplasm	Ovarian Sertoli-Leydig Cell Tumor
EFO:0003893	EFO:1000429	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	212352	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Sertoli-Leydig Cell Tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	565917	\N	\N	EFO	2	EFO	neoplasm	Ovarian Sertoli-Leydig Cell Tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	565918	\N	\N	EFO	2	EFO	endocrine system disease	Ovarian Sertoli-Leydig Cell Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	565919	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Sertoli-Leydig Cell Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	565920	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Sertoli-Leydig Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	2029578	\N	\N	EFO	4	EFO	disease	Ovarian Sertoli-Leydig Cell Tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	1147242	\N	\N	EFO	3	EFO	disease	Ovarian Sertoli-Leydig Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	1147243	\N	\N	EFO	3	EFO	neoplasm	Ovarian Sertoli-Leydig Cell Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	1147244	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Sertoli-Leydig Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	2999995	\N	\N	EFO	5	EFO	disposition	Ovarian Sertoli-Leydig Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	2029579	\N	\N	EFO	4	EFO	disease	Ovarian Sertoli-Leydig Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	4132959	\N	\N	EFO	6	EFO	material property	Ovarian Sertoli-Leydig Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000429	"A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." []	5181229	\N	\N	EFO	7	EFO	experimental factor	Ovarian Sertoli-Leydig Cell Tumor
EFO:1000430	\N	\N	"An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." []	EFO:1000430	"An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." []	70027	\N	\N	EFO	0	EFO	Ovarian Sex Cord Tumor with Annular Tubules	Ovarian Sex Cord Tumor with Annular Tubules
EFO:0003893	EFO:1000430	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000430	"An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." []	212353	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Sex Cord Tumor with Annular Tubules
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000430	"An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." []	565921	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Sex Cord Tumor with Annular Tubules
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000430	"An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." []	565922	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Sex Cord Tumor with Annular Tubules
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000430	"An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." []	1147245	\N	\N	EFO	3	EFO	neoplasm	Ovarian Sex Cord Tumor with Annular Tubules
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000430	"An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." []	1147246	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Sex Cord Tumor with Annular Tubules
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000430	"An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." []	2029580	\N	\N	EFO	4	EFO	disease	Ovarian Sex Cord Tumor with Annular Tubules
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000430	"An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." []	2029581	\N	\N	EFO	4	EFO	disease	Ovarian Sex Cord Tumor with Annular Tubules
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000430	"An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." []	3180449	\N	\N	EFO	5	EFO	disposition	Ovarian Sex Cord Tumor with Annular Tubules
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000430	"An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." []	4389211	\N	\N	EFO	6	EFO	material property	Ovarian Sex Cord Tumor with Annular Tubules
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000430	"An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course." []	5409187	\N	\N	EFO	7	EFO	experimental factor	Ovarian Sex Cord Tumor with Annular Tubules
EFO:1000431	\N	\N	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	70028	\N	\N	EFO	0	EFO	Ovarian Small Cell Carcinoma	Ovarian Small Cell Carcinoma
EFO:0001075	EFO:1000431	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	212354	\N	\N	EFO	1	EFO	ovarian carcinoma	Ovarian Small Cell Carcinoma
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	565923	\N	\N	EFO	2	EFO	carcinoma	Ovarian Small Cell Carcinoma
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	565924	\N	\N	EFO	2	EFO	ovarian neoplasm	Ovarian Small Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	1147247	\N	\N	EFO	3	EFO	cancer	Ovarian Small Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	1147248	\N	\N	EFO	3	EFO	epithelial neoplasm	Ovarian Small Cell Carcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	1147249	\N	\N	EFO	3	EFO	urogenital neoplasm	Ovarian Small Cell Carcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	1147250	\N	\N	EFO	3	EFO	ovarian disease	Ovarian Small Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	2029582	\N	\N	EFO	4	EFO	neoplasm	Ovarian Small Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	2029583	\N	\N	EFO	4	EFO	neoplasm	Ovarian Small Cell Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	2029584	\N	\N	EFO	4	EFO	neoplasm	Ovarian Small Cell Carcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	2029585	\N	\N	EFO	4	EFO	reproductive system disease	Ovarian Small Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	3180450	\N	\N	EFO	5	EFO	disease	Ovarian Small Cell Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	3180451	\N	\N	EFO	5	EFO	disease	Ovarian Small Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	4389212	\N	\N	EFO	6	EFO	disposition	Ovarian Small Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	5409188	\N	\N	EFO	7	EFO	material property	Ovarian Small Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000431	"A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." []	6147594	\N	\N	EFO	8	EFO	experimental factor	Ovarian Small Cell Carcinoma
EFO:1000432	\N	\N	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	70029	\N	\N	EFO	0	EFO	Ovarian Squamous Cell Carcinoma	Ovarian Squamous Cell Carcinoma
EFO:0000707	EFO:1000432	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	212355	\N	\N	EFO	1	EFO	squamous cell carcinoma	Ovarian Squamous Cell Carcinoma
EFO:0001075	EFO:1000432	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	212356	\N	\N	EFO	1	EFO	ovarian carcinoma	Ovarian Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	565925	\N	\N	EFO	2	EFO	carcinoma	Ovarian Squamous Cell Carcinoma
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	565926	\N	\N	EFO	2	EFO	carcinoma	Ovarian Squamous Cell Carcinoma
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	565927	\N	\N	EFO	2	EFO	ovarian neoplasm	Ovarian Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	1147251	\N	\N	EFO	3	EFO	cancer	Ovarian Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	1147252	\N	\N	EFO	3	EFO	epithelial neoplasm	Ovarian Squamous Cell Carcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	1147253	\N	\N	EFO	3	EFO	urogenital neoplasm	Ovarian Squamous Cell Carcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	1147254	\N	\N	EFO	3	EFO	ovarian disease	Ovarian Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	2029586	\N	\N	EFO	4	EFO	neoplasm	Ovarian Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	2029587	\N	\N	EFO	4	EFO	neoplasm	Ovarian Squamous Cell Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	2029588	\N	\N	EFO	4	EFO	neoplasm	Ovarian Squamous Cell Carcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	2029589	\N	\N	EFO	4	EFO	reproductive system disease	Ovarian Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	3180452	\N	\N	EFO	5	EFO	disease	Ovarian Squamous Cell Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	3180453	\N	\N	EFO	5	EFO	disease	Ovarian Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	4389213	\N	\N	EFO	6	EFO	disposition	Ovarian Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	5409189	\N	\N	EFO	7	EFO	material property	Ovarian Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000432	"A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." []	6147595	\N	\N	EFO	8	EFO	experimental factor	Ovarian Squamous Cell Carcinoma
EFO:1000433	\N	\N	"An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." []	EFO:1000433	"An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." []	70030	\N	\N	EFO	0	EFO	Ovarian Steroid Cell Tumor	Ovarian Steroid Cell Tumor
EFO:0003893	EFO:1000433	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000433	"An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." []	212357	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Steroid Cell Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000433	"An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." []	565928	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Steroid Cell Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000433	"An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." []	565929	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Steroid Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000433	"An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." []	1147255	\N	\N	EFO	3	EFO	neoplasm	Ovarian Steroid Cell Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000433	"An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." []	1147256	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Steroid Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000433	"An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." []	2029590	\N	\N	EFO	4	EFO	disease	Ovarian Steroid Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000433	"An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." []	2029591	\N	\N	EFO	4	EFO	disease	Ovarian Steroid Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000433	"An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." []	3180454	\N	\N	EFO	5	EFO	disposition	Ovarian Steroid Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000433	"An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." []	4389214	\N	\N	EFO	6	EFO	material property	Ovarian Steroid Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000433	"An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course." []	5409190	\N	\N	EFO	7	EFO	experimental factor	Ovarian Steroid Cell Tumor
EFO:1000434	\N	\N	"A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." []	EFO:1000434	"A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." []	70031	\N	\N	EFO	0	EFO	Ovarian Stromal Luteoma	Ovarian Stromal Luteoma
EFO:0003893	EFO:1000434	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000434	"A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." []	212358	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Stromal Luteoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000434	"A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." []	565930	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Stromal Luteoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000434	"A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." []	565931	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Stromal Luteoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000434	"A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." []	1147257	\N	\N	EFO	3	EFO	neoplasm	Ovarian Stromal Luteoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000434	"A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." []	1147258	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Stromal Luteoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000434	"A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." []	2029592	\N	\N	EFO	4	EFO	disease	Ovarian Stromal Luteoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000434	"A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." []	2029593	\N	\N	EFO	4	EFO	disease	Ovarian Stromal Luteoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000434	"A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." []	3180455	\N	\N	EFO	5	EFO	disposition	Ovarian Stromal Luteoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000434	"A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." []	4389215	\N	\N	EFO	6	EFO	material property	Ovarian Stromal Luteoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000434	"A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects." []	5409191	\N	\N	EFO	7	EFO	experimental factor	Ovarian Stromal Luteoma
EFO:1000435	\N	\N	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	70032	\N	\N	EFO	0	EFO	Ovarian Transitional Cell Carcinoma	Ovarian Transitional Cell Carcinoma
EFO:0001075	EFO:1000435	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	212359	\N	\N	EFO	1	EFO	ovarian carcinoma	Ovarian Transitional Cell Carcinoma
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	565932	\N	\N	EFO	2	EFO	carcinoma	Ovarian Transitional Cell Carcinoma
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	565933	\N	\N	EFO	2	EFO	ovarian neoplasm	Ovarian Transitional Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	1147259	\N	\N	EFO	3	EFO	cancer	Ovarian Transitional Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	1147260	\N	\N	EFO	3	EFO	epithelial neoplasm	Ovarian Transitional Cell Carcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	1147261	\N	\N	EFO	3	EFO	urogenital neoplasm	Ovarian Transitional Cell Carcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	1147262	\N	\N	EFO	3	EFO	ovarian disease	Ovarian Transitional Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	2029594	\N	\N	EFO	4	EFO	neoplasm	Ovarian Transitional Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	2029595	\N	\N	EFO	4	EFO	neoplasm	Ovarian Transitional Cell Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	2029596	\N	\N	EFO	4	EFO	neoplasm	Ovarian Transitional Cell Carcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	2029597	\N	\N	EFO	4	EFO	reproductive system disease	Ovarian Transitional Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	3180456	\N	\N	EFO	5	EFO	disease	Ovarian Transitional Cell Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	3180457	\N	\N	EFO	5	EFO	disease	Ovarian Transitional Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	4389216	\N	\N	EFO	6	EFO	disposition	Ovarian Transitional Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	5409192	\N	\N	EFO	7	EFO	material property	Ovarian Transitional Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000435	"A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." []	6147596	\N	\N	EFO	8	EFO	experimental factor	Ovarian Transitional Cell Carcinoma
EFO:1000436	\N	\N	"A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." []	EFO:1000436	"A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." []	70033	\N	\N	EFO	0	EFO	Ovarian Tumor of the Thecoma/Fibroma Group	Ovarian Tumor of the Thecoma/Fibroma Group
EFO:0003893	EFO:1000436	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000436	"A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." []	212360	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Tumor of the Thecoma/Fibroma Group
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000436	"A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." []	565934	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Tumor of the Thecoma/Fibroma Group
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000436	"A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." []	565935	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Tumor of the Thecoma/Fibroma Group
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000436	"A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." []	1147263	\N	\N	EFO	3	EFO	neoplasm	Ovarian Tumor of the Thecoma/Fibroma Group
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000436	"A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." []	1147264	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Tumor of the Thecoma/Fibroma Group
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000436	"A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." []	2029598	\N	\N	EFO	4	EFO	disease	Ovarian Tumor of the Thecoma/Fibroma Group
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000436	"A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." []	2029599	\N	\N	EFO	4	EFO	disease	Ovarian Tumor of the Thecoma/Fibroma Group
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000436	"A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." []	3180458	\N	\N	EFO	5	EFO	disposition	Ovarian Tumor of the Thecoma/Fibroma Group
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000436	"A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." []	4389217	\N	\N	EFO	6	EFO	material property	Ovarian Tumor of the Thecoma/Fibroma Group
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000436	"A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." []	5409193	\N	\N	EFO	7	EFO	experimental factor	Ovarian Tumor of the Thecoma/Fibroma Group
EFO:1000437	\N	\N	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	70034	\N	\N	EFO	0	EFO	Ovarian Yolk Sac Tumor	Ovarian Yolk Sac Tumor
EFO:0000514	EFO:1000437	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	212361	\N	\N	EFO	1	EFO	germ cell tumor	Ovarian Yolk Sac Tumor
EFO:0003893	EFO:1000437	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	212362	\N	\N	EFO	1	EFO	ovarian neoplasm	Ovarian Yolk Sac Tumor
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	565936	\N	\N	EFO	2	EFO	neoplasm	Ovarian Yolk Sac Tumor
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	565937	\N	\N	EFO	2	EFO	urogenital neoplasm	Ovarian Yolk Sac Tumor
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	565938	\N	\N	EFO	2	EFO	ovarian disease	Ovarian Yolk Sac Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	2029601	\N	\N	EFO	4	EFO	disease	Ovarian Yolk Sac Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	1147266	\N	\N	EFO	3	EFO	neoplasm	Ovarian Yolk Sac Tumor
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	1147267	\N	\N	EFO	3	EFO	reproductive system disease	Ovarian Yolk Sac Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	2999996	\N	\N	EFO	5	EFO	disposition	Ovarian Yolk Sac Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	2029602	\N	\N	EFO	4	EFO	disease	Ovarian Yolk Sac Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	4132960	\N	\N	EFO	6	EFO	material property	Ovarian Yolk Sac Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000437	"A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." []	5181230	\N	\N	EFO	7	EFO	experimental factor	Ovarian Yolk Sac Tumor
EFO:1000438	\N	\N	"A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." []	EFO:1000438	"A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." []	70035	\N	\N	EFO	0	EFO	Palmar Fibromatosis	Palmar Fibromatosis
EFO:0000497	EFO:1000438	\N	"A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." []	EFO:1000438	"A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." []	212363	\N	\N	EFO	1	EFO	fibromatosis	Palmar Fibromatosis
EFO:0000616	EFO:0000497	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000438	"A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." []	565939	\N	\N	EFO	2	EFO	neoplasm	Palmar Fibromatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000438	"A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." []	1147268	\N	\N	EFO	3	EFO	disease	Palmar Fibromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000438	"A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." []	2029603	\N	\N	EFO	4	EFO	disposition	Palmar Fibromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000438	"A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." []	3180460	\N	\N	EFO	5	EFO	material property	Palmar Fibromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000438	"A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." []	4389219	\N	\N	EFO	6	EFO	experimental factor	Palmar Fibromatosis
EFO:1000439	\N	\N	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	70036	\N	\N	EFO	0	EFO	Pancreatic Acinar Cell Carcinoma	Pancreatic Acinar Cell Carcinoma
EFO:0000216	EFO:1000439	\N	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	212364	\N	\N	EFO	1	EFO	acinar cell carcinoma	Pancreatic Acinar Cell Carcinoma
EFO:0002618	EFO:1000439	\N	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	212365	\N	\N	EFO	1	EFO	pancreatic carcinoma	Pancreatic Acinar Cell Carcinoma
EFO:0000313	EFO:0000216	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	565940	\N	\N	EFO	2	EFO	carcinoma	Pancreatic Acinar Cell Carcinoma
EFO:0000313	EFO:0002618	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	565941	\N	\N	EFO	2	EFO	carcinoma	Pancreatic Acinar Cell Carcinoma
EFO:0003860	EFO:0002618	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	565942	\N	\N	EFO	2	EFO	pancreatic neoplasm	Pancreatic Acinar Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	1147269	\N	\N	EFO	3	EFO	cancer	Pancreatic Acinar Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	1147270	\N	\N	EFO	3	EFO	epithelial neoplasm	Pancreatic Acinar Cell Carcinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	1147271	\N	\N	EFO	3	EFO	endocrine neoplasm	Pancreatic Acinar Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	2029604	\N	\N	EFO	4	EFO	neoplasm	Pancreatic Acinar Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	2029605	\N	\N	EFO	4	EFO	neoplasm	Pancreatic Acinar Cell Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	2029606	\N	\N	EFO	4	EFO	neoplasm	Pancreatic Acinar Cell Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	2029607	\N	\N	EFO	4	EFO	endocrine system disease	Pancreatic Acinar Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	3180461	\N	\N	EFO	5	EFO	disease	Pancreatic Acinar Cell Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	3180462	\N	\N	EFO	5	EFO	disease	Pancreatic Acinar Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	4389220	\N	\N	EFO	6	EFO	disposition	Pancreatic Acinar Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	5409194	\N	\N	EFO	7	EFO	material property	Pancreatic Acinar Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000439	"An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." []	6147597	\N	\N	EFO	8	EFO	experimental factor	Pancreatic Acinar Cell Carcinoma
EFO:1000440	\N	\N	"A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." []	EFO:1000440	"A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." []	70037	\N	\N	EFO	0	EFO	Pancreatic Gastrinoma	Pancreatic Gastrinoma
EFO:0003860	EFO:1000440	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000440	"A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." []	212366	\N	\N	EFO	1	EFO	pancreatic neoplasm	Pancreatic Gastrinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000440	"A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." []	565943	\N	\N	EFO	2	EFO	endocrine neoplasm	Pancreatic Gastrinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000440	"A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." []	1147272	\N	\N	EFO	3	EFO	neoplasm	Pancreatic Gastrinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000440	"A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." []	1147273	\N	\N	EFO	3	EFO	endocrine system disease	Pancreatic Gastrinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000440	"A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." []	2029608	\N	\N	EFO	4	EFO	disease	Pancreatic Gastrinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000440	"A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." []	2029609	\N	\N	EFO	4	EFO	disease	Pancreatic Gastrinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000440	"A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." []	3180463	\N	\N	EFO	5	EFO	disposition	Pancreatic Gastrinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000440	"A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." []	4389221	\N	\N	EFO	6	EFO	material property	Pancreatic Gastrinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000440	"A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." []	5409195	\N	\N	EFO	7	EFO	experimental factor	Pancreatic Gastrinoma
EFO:1000441	\N	\N	"A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis." []	EFO:1000441	"A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis." []	70038	\N	\N	EFO	0	EFO	Pancreatic Glucagonoma	Pancreatic Glucagonoma
EFO:0003860	EFO:1000441	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000441	"A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis." []	212367	\N	\N	EFO	1	EFO	pancreatic neoplasm	Pancreatic Glucagonoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000441	"A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis." []	565944	\N	\N	EFO	2	EFO	endocrine neoplasm	Pancreatic Glucagonoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000441	"A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis." []	1147274	\N	\N	EFO	3	EFO	neoplasm	Pancreatic Glucagonoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000441	"A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis." []	1147275	\N	\N	EFO	3	EFO	endocrine system disease	Pancreatic Glucagonoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000441	"A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis." []	2029610	\N	\N	EFO	4	EFO	disease	Pancreatic Glucagonoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000441	"A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis." []	2029611	\N	\N	EFO	4	EFO	disease	Pancreatic Glucagonoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000441	"A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis." []	3180464	\N	\N	EFO	5	EFO	disposition	Pancreatic Glucagonoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000441	"A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis." []	4389222	\N	\N	EFO	6	EFO	material property	Pancreatic Glucagonoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000441	"A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis." []	5409196	\N	\N	EFO	7	EFO	experimental factor	Pancreatic Glucagonoma
EFO:1000442	\N	\N	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	70039	\N	\N	EFO	0	EFO	Pancreatic Large Cell Neuroendocrine Carcinoma	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0000563	EFO:1000442	\N	"A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	212368	\N	\N	EFO	1	EFO	large cell neuroendocrine carcinoma	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0002618	EFO:1000442	\N	"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	212369	\N	\N	EFO	1	EFO	pancreatic carcinoma	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0000313	EFO:0000563	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	565945	\N	\N	EFO	2	EFO	carcinoma	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0003769	EFO:0000563	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	565946	\N	\N	EFO	2	EFO	endocrine neoplasm	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0000313	EFO:0002618	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	565947	\N	\N	EFO	2	EFO	carcinoma	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0003860	EFO:0002618	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	565948	\N	\N	EFO	2	EFO	pancreatic neoplasm	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	1147276	\N	\N	EFO	3	EFO	cancer	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	1147277	\N	\N	EFO	3	EFO	epithelial neoplasm	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	2029616	\N	\N	EFO	4	EFO	neoplasm	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	2029617	\N	\N	EFO	4	EFO	endocrine system disease	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	1147280	\N	\N	EFO	3	EFO	endocrine neoplasm	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	2029612	\N	\N	EFO	4	EFO	neoplasm	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	2029613	\N	\N	EFO	4	EFO	neoplasm	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	2999997	\N	\N	EFO	5	EFO	disease	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	2999998	\N	\N	EFO	5	EFO	disease	Pancreatic Large Cell Neuroendocrine Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	4132961	\N	\N	EFO	6	EFO	disposition	Pancreatic Large Cell Neuroendocrine Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	5181231	\N	\N	EFO	7	EFO	material property	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000442	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." []	5996708	\N	\N	EFO	8	EFO	experimental factor	Pancreatic Large Cell Neuroendocrine Carcinoma
EFO:1000443	\N	\N	"A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm." []	EFO:1000443	"A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm." []	70040	\N	\N	EFO	0	EFO	Pancreatic Precancerous Condition	Pancreatic Precancerous Condition
EFO:0003860	EFO:1000443	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000443	"A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm." []	212370	\N	\N	EFO	1	EFO	pancreatic neoplasm	Pancreatic Precancerous Condition
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000443	"A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm." []	565949	\N	\N	EFO	2	EFO	endocrine neoplasm	Pancreatic Precancerous Condition
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000443	"A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm." []	1147281	\N	\N	EFO	3	EFO	neoplasm	Pancreatic Precancerous Condition
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000443	"A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm." []	1147282	\N	\N	EFO	3	EFO	endocrine system disease	Pancreatic Precancerous Condition
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000443	"A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm." []	2029618	\N	\N	EFO	4	EFO	disease	Pancreatic Precancerous Condition
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000443	"A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm." []	2029619	\N	\N	EFO	4	EFO	disease	Pancreatic Precancerous Condition
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000443	"A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm." []	3180466	\N	\N	EFO	5	EFO	disposition	Pancreatic Precancerous Condition
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000443	"A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm." []	4389224	\N	\N	EFO	6	EFO	material property	Pancreatic Precancerous Condition
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000443	"A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm." []	5409198	\N	\N	EFO	7	EFO	experimental factor	Pancreatic Precancerous Condition
EFO:1000444	\N	\N	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	70041	\N	\N	EFO	0	EFO	Pancreatic Small Cell Neuroendocrine Carcinoma	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:0000313	EFO:1000444	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	212371	\N	\N	EFO	1	EFO	carcinoma	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:0003860	EFO:1000444	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	212372	\N	\N	EFO	1	EFO	pancreatic neoplasm	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	565950	\N	\N	EFO	2	EFO	cancer	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	565951	\N	\N	EFO	2	EFO	epithelial neoplasm	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	565952	\N	\N	EFO	2	EFO	endocrine neoplasm	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	1147283	\N	\N	EFO	3	EFO	neoplasm	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	1147284	\N	\N	EFO	3	EFO	neoplasm	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	1147285	\N	\N	EFO	3	EFO	neoplasm	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	1147286	\N	\N	EFO	3	EFO	endocrine system disease	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	2029620	\N	\N	EFO	4	EFO	disease	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	2029621	\N	\N	EFO	4	EFO	disease	Pancreatic Small Cell Neuroendocrine Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	3180467	\N	\N	EFO	5	EFO	disposition	Pancreatic Small Cell Neuroendocrine Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	4389225	\N	\N	EFO	6	EFO	material property	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000444	"An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." []	5409199	\N	\N	EFO	7	EFO	experimental factor	Pancreatic Small Cell Neuroendocrine Carcinoma
EFO:1000445	\N	\N	"A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis." []	EFO:1000445	"A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis." []	70042	\N	\N	EFO	0	EFO	Pancreatic Vipoma	Pancreatic Vipoma
EFO:0003860	EFO:1000445	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000445	"A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis." []	212373	\N	\N	EFO	1	EFO	pancreatic neoplasm	Pancreatic Vipoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000445	"A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis." []	565953	\N	\N	EFO	2	EFO	endocrine neoplasm	Pancreatic Vipoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000445	"A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis." []	1147287	\N	\N	EFO	3	EFO	neoplasm	Pancreatic Vipoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000445	"A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis." []	1147288	\N	\N	EFO	3	EFO	endocrine system disease	Pancreatic Vipoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000445	"A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis." []	2029622	\N	\N	EFO	4	EFO	disease	Pancreatic Vipoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000445	"A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis." []	2029623	\N	\N	EFO	4	EFO	disease	Pancreatic Vipoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000445	"A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis." []	3180468	\N	\N	EFO	5	EFO	disposition	Pancreatic Vipoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000445	"A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis." []	4389226	\N	\N	EFO	6	EFO	material property	Pancreatic Vipoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000445	"A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis." []	5409200	\N	\N	EFO	7	EFO	experimental factor	Pancreatic Vipoma
EFO:1000446	\N	\N	"A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." []	EFO:1000446	"A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." []	70043	\N	\N	EFO	0	EFO	Pancreatoblastoma	Pancreatoblastoma
EFO:0003860	EFO:1000446	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000446	"A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." []	212374	\N	\N	EFO	1	EFO	pancreatic neoplasm	Pancreatoblastoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000446	"A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." []	565954	\N	\N	EFO	2	EFO	endocrine neoplasm	Pancreatoblastoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000446	"A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." []	1147289	\N	\N	EFO	3	EFO	neoplasm	Pancreatoblastoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000446	"A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." []	1147290	\N	\N	EFO	3	EFO	endocrine system disease	Pancreatoblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000446	"A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." []	2029624	\N	\N	EFO	4	EFO	disease	Pancreatoblastoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000446	"A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." []	2029625	\N	\N	EFO	4	EFO	disease	Pancreatoblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000446	"A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." []	3180469	\N	\N	EFO	5	EFO	disposition	Pancreatoblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000446	"A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." []	4389227	\N	\N	EFO	6	EFO	material property	Pancreatoblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000446	"A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." []	5409201	\N	\N	EFO	7	EFO	experimental factor	Pancreatoblastoma
EFO:1000447	\N	\N	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	70044	\N	\N	EFO	0	EFO	Papillary Craniopharyngioma	Papillary Craniopharyngioma
EFO:0002461	EFO:1000447	\N	"Any disease which affects part of the skeletal system." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	212375	\N	\N	EFO	1	EFO	skeletal system disease	Papillary Craniopharyngioma
EFO:0003769	EFO:1000447	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	212376	\N	\N	EFO	1	EFO	endocrine neoplasm	Papillary Craniopharyngioma
EFO:0003833	EFO:1000447	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	212377	\N	\N	EFO	1	EFO	brain neoplasm	Papillary Craniopharyngioma
EFO:0005950	EFO:1000447	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	212378	\N	\N	EFO	1	EFO	head and neck neoplasia	Papillary Craniopharyngioma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	565955	\N	\N	EFO	2	EFO	disease	Papillary Craniopharyngioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	565956	\N	\N	EFO	2	EFO	neoplasm	Papillary Craniopharyngioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	565957	\N	\N	EFO	2	EFO	endocrine system disease	Papillary Craniopharyngioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	565958	\N	\N	EFO	2	EFO	neoplasm	Papillary Craniopharyngioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	565959	\N	\N	EFO	2	EFO	brain disease	Papillary Craniopharyngioma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	565960	\N	\N	EFO	2	EFO	head disease	Papillary Craniopharyngioma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	565961	\N	\N	EFO	2	EFO	neoplasm	Papillary Craniopharyngioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	3180471	\N	\N	EFO	5	EFO	disposition	Papillary Craniopharyngioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	1147292	\N	\N	EFO	3	EFO	disease	Papillary Craniopharyngioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	1147293	\N	\N	EFO	3	EFO	disease	Papillary Craniopharyngioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	1147294	\N	\N	EFO	3	EFO	nervous system disease	Papillary Craniopharyngioma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	1147295	\N	\N	EFO	3	EFO	disease	Papillary Craniopharyngioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	4066770	\N	\N	EFO	6	EFO	material property	Papillary Craniopharyngioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	2029628	\N	\N	EFO	4	EFO	disease	Papillary Craniopharyngioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000447	"A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" []	5059448	\N	\N	EFO	7	EFO	experimental factor	Papillary Craniopharyngioma
EFO:1000448	\N	\N	"A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." []	EFO:1000448	"A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." []	70045	\N	\N	EFO	0	EFO	Papillary Cystic Neoplasm	Papillary Cystic Neoplasm
EFO:0000616	EFO:1000448	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000448	"A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." []	212379	\N	\N	EFO	1	EFO	neoplasm	Papillary Cystic Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000448	"A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." []	565962	\N	\N	EFO	2	EFO	disease	Papillary Cystic Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000448	"A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." []	1147296	\N	\N	EFO	3	EFO	disposition	Papillary Cystic Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000448	"A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." []	2029629	\N	\N	EFO	4	EFO	material property	Papillary Cystic Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000448	"A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." []	3180472	\N	\N	EFO	5	EFO	experimental factor	Papillary Cystic Neoplasm
EFO:1000449	\N	\N	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	70046	\N	\N	EFO	0	EFO	Papillary Meningioma	Papillary Meningioma
Orphanet:2495	EFO:1000449	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	212380	\N	\N	EFO	1	EFO	Meningioma	Papillary Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	565963	\N	\N	EFO	2	EFO	endocrine neoplasm	Papillary Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	565964	\N	\N	EFO	2	EFO	meningeal neoplasm	Papillary Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	1147297	\N	\N	EFO	3	EFO	neoplasm	Papillary Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	1147298	\N	\N	EFO	3	EFO	endocrine system disease	Papillary Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	1147299	\N	\N	EFO	3	EFO	brain neoplasm	Papillary Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	3180474	\N	\N	EFO	5	EFO	disease	Papillary Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	2029631	\N	\N	EFO	4	EFO	disease	Papillary Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	2029632	\N	\N	EFO	4	EFO	neoplasm	Papillary Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	2029633	\N	\N	EFO	4	EFO	brain disease	Papillary Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	5409203	\N	\N	EFO	7	EFO	disposition	Papillary Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	3180475	\N	\N	EFO	5	EFO	nervous system disease	Papillary Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	5876616	\N	\N	EFO	8	EFO	material property	Papillary Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	4389229	\N	\N	EFO	6	EFO	disease	Papillary Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000449	"A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." []	6469857	\N	\N	EFO	9	EFO	experimental factor	Papillary Meningioma
EFO:1000450	\N	\N	"A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." []	EFO:1000450	"A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." []	70047	\N	\N	EFO	0	EFO	Papillary Transitional Cell Carcinoma	Papillary Transitional Cell Carcinoma
EFO:0000313	EFO:1000450	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000450	"A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." []	212381	\N	\N	EFO	1	EFO	carcinoma	Papillary Transitional Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000450	"A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." []	565965	\N	\N	EFO	2	EFO	cancer	Papillary Transitional Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000450	"A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." []	565966	\N	\N	EFO	2	EFO	epithelial neoplasm	Papillary Transitional Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000450	"A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." []	1147300	\N	\N	EFO	3	EFO	neoplasm	Papillary Transitional Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000450	"A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." []	1147301	\N	\N	EFO	3	EFO	neoplasm	Papillary Transitional Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000450	"A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." []	2029634	\N	\N	EFO	4	EFO	disease	Papillary Transitional Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000450	"A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." []	3180476	\N	\N	EFO	5	EFO	disposition	Papillary Transitional Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000450	"A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." []	4389230	\N	\N	EFO	6	EFO	material property	Papillary Transitional Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000450	"A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." []	5409204	\N	\N	EFO	7	EFO	experimental factor	Papillary Transitional Cell Carcinoma
EFO:1000451	\N	\N	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	70048	\N	\N	EFO	0	EFO	Papillary Tumor of the Pineal Region	Papillary Tumor of the Pineal Region
EFO:0003769	EFO:1000451	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	212382	\N	\N	EFO	1	EFO	endocrine neoplasm	Papillary Tumor of the Pineal Region
EFO:0003833	EFO:1000451	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	212383	\N	\N	EFO	1	EFO	brain neoplasm	Papillary Tumor of the Pineal Region
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	565967	\N	\N	EFO	2	EFO	neoplasm	Papillary Tumor of the Pineal Region
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	565968	\N	\N	EFO	2	EFO	endocrine system disease	Papillary Tumor of the Pineal Region
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	565969	\N	\N	EFO	2	EFO	neoplasm	Papillary Tumor of the Pineal Region
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	565970	\N	\N	EFO	2	EFO	brain disease	Papillary Tumor of the Pineal Region
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	1147302	\N	\N	EFO	3	EFO	disease	Papillary Tumor of the Pineal Region
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	1147303	\N	\N	EFO	3	EFO	disease	Papillary Tumor of the Pineal Region
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	1147304	\N	\N	EFO	3	EFO	nervous system disease	Papillary Tumor of the Pineal Region
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	3180478	\N	\N	EFO	5	EFO	disposition	Papillary Tumor of the Pineal Region
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	2029636	\N	\N	EFO	4	EFO	disease	Papillary Tumor of the Pineal Region
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	4132964	\N	\N	EFO	6	EFO	material property	Papillary Tumor of the Pineal Region
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000451	"A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable." []	5181233	\N	\N	EFO	7	EFO	experimental factor	Papillary Tumor of the Pineal Region
EFO:1000452	\N	\N	"A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." []	EFO:1000452	"A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." []	70049	\N	\N	EFO	0	EFO	Parachordoma	Parachordoma
EFO:0000616	EFO:1000452	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000452	"A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." []	212384	\N	\N	EFO	1	EFO	neoplasm	Parachordoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000452	"A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." []	565971	\N	\N	EFO	2	EFO	disease	Parachordoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000452	"A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." []	1147305	\N	\N	EFO	3	EFO	disposition	Parachordoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000452	"A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." []	2029637	\N	\N	EFO	4	EFO	material property	Parachordoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000452	"A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." []	3180479	\N	\N	EFO	5	EFO	experimental factor	Parachordoma
EFO:1000453	\N	\N	"A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." []	EFO:1000453	"A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." []	70050	\N	\N	EFO	0	EFO	Paraganglioma	Paraganglioma
EFO:0003769	EFO:1000453	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000453	"A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." []	212385	\N	\N	EFO	1	EFO	endocrine neoplasm	Paraganglioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000453	"A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." []	565972	\N	\N	EFO	2	EFO	neoplasm	Paraganglioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000453	"A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." []	565973	\N	\N	EFO	2	EFO	endocrine system disease	Paraganglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000453	"A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." []	1147306	\N	\N	EFO	3	EFO	disease	Paraganglioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000453	"A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." []	1147307	\N	\N	EFO	3	EFO	disease	Paraganglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000453	"A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." []	2029638	\N	\N	EFO	4	EFO	disposition	Paraganglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000453	"A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." []	3180480	\N	\N	EFO	5	EFO	material property	Paraganglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000453	"A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." []	4389232	\N	\N	EFO	6	EFO	experimental factor	Paraganglioma
EFO:1000454	\N	\N	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	70051	\N	\N	EFO	0	EFO	Paranasal Sinus Adenoid Cystic Carcinoma	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000231	EFO:1000454	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	212386	\N	\N	EFO	1	EFO	adenoid cystic carcinoma	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0003866	EFO:1000454	\N	"Tumors or cancer of the PARANASAL SINUSES." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	212387	\N	\N	EFO	1	EFO	paranasal sinus neoplasm	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	565974	\N	\N	EFO	2	EFO	carcinoma	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0003853	EFO:0003866	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	565975	\N	\N	EFO	2	EFO	respiratory system neoplasm	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0005950	EFO:0003866	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	565976	\N	\N	EFO	2	EFO	head and neck neoplasia	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	1147308	\N	\N	EFO	3	EFO	cancer	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	1147309	\N	\N	EFO	3	EFO	epithelial neoplasm	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	1147310	\N	\N	EFO	3	EFO	neoplasm	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	1147311	\N	\N	EFO	3	EFO	respiratory system disease	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	1147312	\N	\N	EFO	3	EFO	head disease	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	1147313	\N	\N	EFO	3	EFO	neoplasm	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	2029639	\N	\N	EFO	4	EFO	neoplasm	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	2029640	\N	\N	EFO	4	EFO	neoplasm	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	3180481	\N	\N	EFO	5	EFO	disease	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	2029642	\N	\N	EFO	4	EFO	disease	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	2029643	\N	\N	EFO	4	EFO	disease	Paranasal Sinus Adenoid Cystic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	4132965	\N	\N	EFO	6	EFO	disposition	Paranasal Sinus Adenoid Cystic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	5181234	\N	\N	EFO	7	EFO	material property	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000454	"A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." []	5996710	\N	\N	EFO	8	EFO	experimental factor	Paranasal Sinus Adenoid Cystic Carcinoma
EFO:1000455	\N	\N	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	70052	\N	\N	EFO	0	EFO	Paranasal Sinus Schneiderian Papilloma	Paranasal Sinus Schneiderian Papilloma
EFO:0003866	EFO:1000455	\N	"Tumors or cancer of the PARANASAL SINUSES." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	212388	\N	\N	EFO	1	EFO	paranasal sinus neoplasm	Paranasal Sinus Schneiderian Papilloma
EFO:0003853	EFO:0003866	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	565977	\N	\N	EFO	2	EFO	respiratory system neoplasm	Paranasal Sinus Schneiderian Papilloma
EFO:0005950	EFO:0003866	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	565978	\N	\N	EFO	2	EFO	head and neck neoplasia	Paranasal Sinus Schneiderian Papilloma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	1147314	\N	\N	EFO	3	EFO	neoplasm	Paranasal Sinus Schneiderian Papilloma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	1147315	\N	\N	EFO	3	EFO	respiratory system disease	Paranasal Sinus Schneiderian Papilloma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	1147316	\N	\N	EFO	3	EFO	head disease	Paranasal Sinus Schneiderian Papilloma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	1147317	\N	\N	EFO	3	EFO	neoplasm	Paranasal Sinus Schneiderian Papilloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	2029644	\N	\N	EFO	4	EFO	disease	Paranasal Sinus Schneiderian Papilloma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	2029645	\N	\N	EFO	4	EFO	disease	Paranasal Sinus Schneiderian Papilloma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	2029646	\N	\N	EFO	4	EFO	disease	Paranasal Sinus Schneiderian Papilloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	3180483	\N	\N	EFO	5	EFO	disposition	Paranasal Sinus Schneiderian Papilloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	4389234	\N	\N	EFO	6	EFO	material property	Paranasal Sinus Schneiderian Papilloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000455	"A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." []	5409206	\N	\N	EFO	7	EFO	experimental factor	Paranasal Sinus Schneiderian Papilloma
EFO:1000456	\N	\N	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	70053	\N	\N	EFO	0	EFO	Parathyroid Gland Carcinoma	Parathyroid Gland Carcinoma
EFO:0000313	EFO:1000456	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	212389	\N	\N	EFO	1	EFO	carcinoma	Parathyroid Gland Carcinoma
EFO:0003769	EFO:1000456	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	212390	\N	\N	EFO	1	EFO	endocrine neoplasm	Parathyroid Gland Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	565979	\N	\N	EFO	2	EFO	cancer	Parathyroid Gland Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	565980	\N	\N	EFO	2	EFO	epithelial neoplasm	Parathyroid Gland Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	565981	\N	\N	EFO	2	EFO	neoplasm	Parathyroid Gland Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	565982	\N	\N	EFO	2	EFO	endocrine system disease	Parathyroid Gland Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	1147318	\N	\N	EFO	3	EFO	neoplasm	Parathyroid Gland Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	1147319	\N	\N	EFO	3	EFO	neoplasm	Parathyroid Gland Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	2029647	\N	\N	EFO	4	EFO	disease	Parathyroid Gland Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	1147321	\N	\N	EFO	3	EFO	disease	Parathyroid Gland Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	3000000	\N	\N	EFO	5	EFO	disposition	Parathyroid Gland Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	4132966	\N	\N	EFO	6	EFO	material property	Parathyroid Gland Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000456	"A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." []	5181235	\N	\N	EFO	7	EFO	experimental factor	Parathyroid Gland Carcinoma
EFO:1000457	\N	\N	"Parathyroid hyperplasia is the enlargement of all four parathyroid glands. The parathyroid glands are glands in the neck that produce parathyroid hormone (PTH). (https://www.nlm.nih.gov/medlineplus/ency/article/001189.htm)" []	EFO:1000457	"Parathyroid hyperplasia is the enlargement of all four parathyroid glands. The parathyroid glands are glands in the neck that produce parathyroid hormone (PTH). (https://www.nlm.nih.gov/medlineplus/ency/article/001189.htm)" []	70054	\N	\N	EFO	0	EFO	Parathyroid Hyperplasia	Parathyroid Hyperplasia
EFO:0000536	EFO:1000457	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1000457	"Parathyroid hyperplasia is the enlargement of all four parathyroid glands. The parathyroid glands are glands in the neck that produce parathyroid hormone (PTH). (https://www.nlm.nih.gov/medlineplus/ency/article/001189.htm)" []	212391	\N	\N	EFO	1	EFO	hyperplasia	Parathyroid Hyperplasia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000457	"Parathyroid hyperplasia is the enlargement of all four parathyroid glands. The parathyroid glands are glands in the neck that produce parathyroid hormone (PTH). (https://www.nlm.nih.gov/medlineplus/ency/article/001189.htm)" []	565983	\N	\N	EFO	2	EFO	disease	Parathyroid Hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000457	"Parathyroid hyperplasia is the enlargement of all four parathyroid glands. The parathyroid glands are glands in the neck that produce parathyroid hormone (PTH). (https://www.nlm.nih.gov/medlineplus/ency/article/001189.htm)" []	1147322	\N	\N	EFO	3	EFO	disposition	Parathyroid Hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000457	"Parathyroid hyperplasia is the enlargement of all four parathyroid glands. The parathyroid glands are glands in the neck that produce parathyroid hormone (PTH). (https://www.nlm.nih.gov/medlineplus/ency/article/001189.htm)" []	2029649	\N	\N	EFO	4	EFO	material property	Parathyroid Hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000457	"Parathyroid hyperplasia is the enlargement of all four parathyroid glands. The parathyroid glands are glands in the neck that produce parathyroid hormone (PTH). (https://www.nlm.nih.gov/medlineplus/ency/article/001189.htm)" []	3180485	\N	\N	EFO	5	EFO	experimental factor	Parathyroid Hyperplasia
EFO:1000458	\N	\N	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	70055	\N	\N	EFO	0	EFO	Parotid Gland Acinic Cell Carcinoma	Parotid Gland Acinic Cell Carcinoma
EFO:0000216	EFO:1000458	\N	"A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	212392	\N	\N	EFO	1	EFO	acinar cell carcinoma	Parotid Gland Acinic Cell Carcinoma
EFO:0003873	EFO:1000458	\N	"" []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	212393	\N	\N	EFO	1	EFO	parotid neoplasm	Parotid Gland Acinic Cell Carcinoma
EFO:0000313	EFO:0000216	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	565984	\N	\N	EFO	2	EFO	carcinoma	Parotid Gland Acinic Cell Carcinoma
EFO:0000405	EFO:0003873	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	565985	\N	\N	EFO	2	EFO	digestive system disease	Parotid Gland Acinic Cell Carcinoma
EFO:0005950	EFO:0003873	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	565986	\N	\N	EFO	2	EFO	head and neck neoplasia	Parotid Gland Acinic Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	1147323	\N	\N	EFO	3	EFO	cancer	Parotid Gland Acinic Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	1147324	\N	\N	EFO	3	EFO	epithelial neoplasm	Parotid Gland Acinic Cell Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	1147325	\N	\N	EFO	3	EFO	disease	Parotid Gland Acinic Cell Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	1147326	\N	\N	EFO	3	EFO	head disease	Parotid Gland Acinic Cell Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	1147327	\N	\N	EFO	3	EFO	neoplasm	Parotid Gland Acinic Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	2029650	\N	\N	EFO	4	EFO	neoplasm	Parotid Gland Acinic Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	2029651	\N	\N	EFO	4	EFO	neoplasm	Parotid Gland Acinic Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	4132968	\N	\N	EFO	6	EFO	disposition	Parotid Gland Acinic Cell Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	2029653	\N	\N	EFO	4	EFO	disease	Parotid Gland Acinic Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	3180486	\N	\N	EFO	5	EFO	disease	Parotid Gland Acinic Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	5059449	\N	\N	EFO	7	EFO	material property	Parotid Gland Acinic Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000458	"An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." []	5876617	\N	\N	EFO	8	EFO	experimental factor	Parotid Gland Acinic Cell Carcinoma
EFO:1000459	\N	\N	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	70056	\N	\N	EFO	0	EFO	Parotid Gland Adenoid Cystic Carcinoma	Parotid Gland Adenoid Cystic Carcinoma
EFO:0000231	EFO:1000459	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	212394	\N	\N	EFO	1	EFO	adenoid cystic carcinoma	Parotid Gland Adenoid Cystic Carcinoma
EFO:0000405	EFO:1000459	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	212395	\N	\N	EFO	1	EFO	digestive system disease	Parotid Gland Adenoid Cystic Carcinoma
EFO:0005950	EFO:1000459	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	212396	\N	\N	EFO	1	EFO	head and neck neoplasia	Parotid Gland Adenoid Cystic Carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	565987	\N	\N	EFO	2	EFO	carcinoma	Parotid Gland Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	565988	\N	\N	EFO	2	EFO	disease	Parotid Gland Adenoid Cystic Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	565989	\N	\N	EFO	2	EFO	head disease	Parotid Gland Adenoid Cystic Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	565990	\N	\N	EFO	2	EFO	neoplasm	Parotid Gland Adenoid Cystic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	1147328	\N	\N	EFO	3	EFO	cancer	Parotid Gland Adenoid Cystic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	1147329	\N	\N	EFO	3	EFO	epithelial neoplasm	Parotid Gland Adenoid Cystic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	4066771	\N	\N	EFO	6	EFO	disposition	Parotid Gland Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	1147331	\N	\N	EFO	3	EFO	disease	Parotid Gland Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	3180489	\N	\N	EFO	5	EFO	disease	Parotid Gland Adenoid Cystic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	2029655	\N	\N	EFO	4	EFO	neoplasm	Parotid Gland Adenoid Cystic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	2029656	\N	\N	EFO	4	EFO	neoplasm	Parotid Gland Adenoid Cystic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	5028353	\N	\N	EFO	7	EFO	material property	Parotid Gland Adenoid Cystic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000459	"An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	5817394	\N	\N	EFO	8	EFO	experimental factor	Parotid Gland Adenoid Cystic Carcinoma
EFO:1000460	\N	\N	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	EFO:1000460	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	70057	\N	\N	EFO	0	EFO	Parotid Gland Carcinoma	Parotid Gland Carcinoma
EFO:0003873	EFO:1000460	\N	"" []	EFO:1000460	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	212397	\N	\N	EFO	1	EFO	parotid neoplasm	Parotid Gland Carcinoma
EFO:0000405	EFO:0003873	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000460	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	565991	\N	\N	EFO	2	EFO	digestive system disease	Parotid Gland Carcinoma
EFO:0005950	EFO:0003873	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000460	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	565992	\N	\N	EFO	2	EFO	head and neck neoplasia	Parotid Gland Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000460	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	1147333	\N	\N	EFO	3	EFO	disease	Parotid Gland Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000460	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	1147334	\N	\N	EFO	3	EFO	head disease	Parotid Gland Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000460	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	1147335	\N	\N	EFO	3	EFO	neoplasm	Parotid Gland Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000460	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	3180492	\N	\N	EFO	5	EFO	disposition	Parotid Gland Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000460	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	2029660	\N	\N	EFO	4	EFO	disease	Parotid Gland Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000460	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	2029661	\N	\N	EFO	4	EFO	disease	Parotid Gland Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000460	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	4132970	\N	\N	EFO	6	EFO	material property	Parotid Gland Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000460	"A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma." []	5181237	\N	\N	EFO	7	EFO	experimental factor	Parotid Gland Carcinoma
EFO:1000461	\N	\N	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	70058	\N	\N	EFO	0	EFO	Parotid Gland Carcinoma ex Pleomorphic Adenoma	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000313	EFO:1000461	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	212398	\N	\N	EFO	1	EFO	carcinoma	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000405	EFO:1000461	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	212399	\N	\N	EFO	1	EFO	digestive system disease	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0005950	EFO:1000461	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	212400	\N	\N	EFO	1	EFO	head and neck neoplasia	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	565993	\N	\N	EFO	2	EFO	cancer	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	565994	\N	\N	EFO	2	EFO	epithelial neoplasm	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	565995	\N	\N	EFO	2	EFO	disease	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	565996	\N	\N	EFO	2	EFO	head disease	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	565997	\N	\N	EFO	2	EFO	neoplasm	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147336	\N	\N	EFO	3	EFO	neoplasm	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147337	\N	\N	EFO	3	EFO	neoplasm	Parotid Gland Carcinoma ex Pleomorphic Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	3000003	\N	\N	EFO	5	EFO	disposition	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147339	\N	\N	EFO	3	EFO	disease	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	2029662	\N	\N	EFO	4	EFO	disease	Parotid Gland Carcinoma ex Pleomorphic Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	4066772	\N	\N	EFO	6	EFO	material property	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000461	"A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	5059450	\N	\N	EFO	7	EFO	experimental factor	Parotid Gland Carcinoma ex Pleomorphic Adenoma
EFO:1000462	\N	\N	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	EFO:1000462	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	70059	\N	\N	EFO	0	EFO	Parotid Gland Pleomorphic Adenoma	Parotid Gland Pleomorphic Adenoma
EFO:0003826	EFO:1000462	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000462	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	212401	\N	\N	EFO	1	EFO	salivary gland neoplasm	Parotid Gland Pleomorphic Adenoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000462	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	565998	\N	\N	EFO	2	EFO	digestive system disease	Parotid Gland Pleomorphic Adenoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000462	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	565999	\N	\N	EFO	2	EFO	head and neck neoplasia	Parotid Gland Pleomorphic Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000462	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	1147341	\N	\N	EFO	3	EFO	disease	Parotid Gland Pleomorphic Adenoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000462	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	1147342	\N	\N	EFO	3	EFO	head disease	Parotid Gland Pleomorphic Adenoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000462	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	1147343	\N	\N	EFO	3	EFO	neoplasm	Parotid Gland Pleomorphic Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000462	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	3180495	\N	\N	EFO	5	EFO	disposition	Parotid Gland Pleomorphic Adenoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000462	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	2029666	\N	\N	EFO	4	EFO	disease	Parotid Gland Pleomorphic Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000462	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	2029667	\N	\N	EFO	4	EFO	disease	Parotid Gland Pleomorphic Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000462	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	4132972	\N	\N	EFO	6	EFO	material property	Parotid Gland Pleomorphic Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000462	"A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." []	5181238	\N	\N	EFO	7	EFO	experimental factor	Parotid Gland Pleomorphic Adenoma
EFO:1000463	\N	\N	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	70060	\N	\N	EFO	0	EFO	Parotid Gland Squamous Cell Carcinoma	Parotid Gland Squamous Cell Carcinoma
EFO:0000181	EFO:1000463	\N	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	212402	\N	\N	EFO	1	EFO	head and neck squamous cell carcinoma	Parotid Gland Squamous Cell Carcinoma
EFO:0000707	EFO:0000181	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	566000	\N	\N	EFO	2	EFO	squamous cell carcinoma	Parotid Gland Squamous Cell Carcinoma
EFO:0005950	EFO:0000181	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	566001	\N	\N	EFO	2	EFO	head and neck neoplasia	Parotid Gland Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	1147344	\N	\N	EFO	3	EFO	carcinoma	Parotid Gland Squamous Cell Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	1147345	\N	\N	EFO	3	EFO	head disease	Parotid Gland Squamous Cell Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	1147346	\N	\N	EFO	3	EFO	neoplasm	Parotid Gland Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	2029668	\N	\N	EFO	4	EFO	cancer	Parotid Gland Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	2029669	\N	\N	EFO	4	EFO	epithelial neoplasm	Parotid Gland Squamous Cell Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	2029670	\N	\N	EFO	4	EFO	disease	Parotid Gland Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	4389239	\N	\N	EFO	6	EFO	disease	Parotid Gland Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	3180496	\N	\N	EFO	5	EFO	neoplasm	Parotid Gland Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	3180497	\N	\N	EFO	5	EFO	neoplasm	Parotid Gland Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	5059451	\N	\N	EFO	7	EFO	disposition	Parotid Gland Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	5876618	\N	\N	EFO	8	EFO	material property	Parotid Gland Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000463	"An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." []	6469858	\N	\N	EFO	9	EFO	experimental factor	Parotid Gland Squamous Cell Carcinoma
EFO:1000464	\N	\N	"A soft tissue mesenchymal tumor with perivascular epithelioid cell differentiation. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." []	EFO:1000464	"A soft tissue mesenchymal tumor with perivascular epithelioid cell differentiation. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." []	70061	\N	\N	EFO	0	EFO	PEComa	PEComa
EFO:0000616	EFO:1000464	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000464	"A soft tissue mesenchymal tumor with perivascular epithelioid cell differentiation. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." []	212403	\N	\N	EFO	1	EFO	neoplasm	PEComa
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000464	"A soft tissue mesenchymal tumor with perivascular epithelioid cell differentiation. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." []	566002	\N	\N	EFO	2	EFO	disease	PEComa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000464	"A soft tissue mesenchymal tumor with perivascular epithelioid cell differentiation. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." []	1147347	\N	\N	EFO	3	EFO	disposition	PEComa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000464	"A soft tissue mesenchymal tumor with perivascular epithelioid cell differentiation. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." []	2029672	\N	\N	EFO	4	EFO	material property	PEComa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000464	"A soft tissue mesenchymal tumor with perivascular epithelioid cell differentiation. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." []	3180499	\N	\N	EFO	5	EFO	experimental factor	PEComa
EFO:1000465	\N	\N	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	70062	\N	\N	EFO	0	EFO	Penile Carcinoma	Penile Carcinoma
EFO:0000313	EFO:1000465	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	212404	\N	\N	EFO	1	EFO	carcinoma	Penile Carcinoma
EFO:0000512	EFO:1000465	\N	"any diease of the reproductive system" []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	212405	\N	\N	EFO	1	EFO	reproductive system disease	Penile Carcinoma
EFO:0003863	EFO:1000465	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	212406	\N	\N	EFO	1	EFO	urogenital neoplasm	Penile Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	566003	\N	\N	EFO	2	EFO	cancer	Penile Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	566004	\N	\N	EFO	2	EFO	epithelial neoplasm	Penile Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	566005	\N	\N	EFO	2	EFO	disease	Penile Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	566006	\N	\N	EFO	2	EFO	neoplasm	Penile Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	1147348	\N	\N	EFO	3	EFO	neoplasm	Penile Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	1147349	\N	\N	EFO	3	EFO	neoplasm	Penile Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	3000005	\N	\N	EFO	5	EFO	disposition	Penile Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	2029673	\N	\N	EFO	4	EFO	disease	Penile Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	4066773	\N	\N	EFO	6	EFO	material property	Penile Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000465	"A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy." []	5059452	\N	\N	EFO	7	EFO	experimental factor	Penile Carcinoma
EFO:1000466	\N	\N	"Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." []	EFO:1000466	"Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." []	70063	\N	\N	EFO	0	EFO	Penile Fibromatosis	Penile Fibromatosis
EFO:0000497	EFO:1000466	\N	"A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." []	EFO:1000466	"Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." []	212407	\N	\N	EFO	1	EFO	fibromatosis	Penile Fibromatosis
EFO:0000512	EFO:1000466	\N	"any diease of the reproductive system" []	EFO:1000466	"Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." []	212408	\N	\N	EFO	1	EFO	reproductive system disease	Penile Fibromatosis
EFO:0003863	EFO:1000466	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000466	"Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." []	212409	\N	\N	EFO	1	EFO	urogenital neoplasm	Penile Fibromatosis
EFO:0000616	EFO:0000497	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000466	"Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." []	566007	\N	\N	EFO	2	EFO	neoplasm	Penile Fibromatosis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000466	"Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." []	566008	\N	\N	EFO	2	EFO	disease	Penile Fibromatosis
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000466	"Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." []	566009	\N	\N	EFO	2	EFO	neoplasm	Penile Fibromatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000466	"Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." []	1147352	\N	\N	EFO	3	EFO	disease	Penile Fibromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000466	"Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." []	2029676	\N	\N	EFO	4	EFO	disposition	Penile Fibromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000466	"Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." []	3000006	\N	\N	EFO	5	EFO	material property	Penile Fibromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000466	"Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." []	4132974	\N	\N	EFO	6	EFO	experimental factor	Penile Fibromatosis
EFO:1000467	\N	\N	"A benign or malignant mesothelial neoplasm that arises from the peritoneum." []	EFO:1000467	"A benign or malignant mesothelial neoplasm that arises from the peritoneum." []	70064	\N	\N	EFO	0	EFO	Peritoneal Mesothelioma	Peritoneal Mesothelioma
EFO:0000588	EFO:1000467	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:1000467	"A benign or malignant mesothelial neoplasm that arises from the peritoneum." []	212410	\N	\N	EFO	1	EFO	mesothelioma	Peritoneal Mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000467	"A benign or malignant mesothelial neoplasm that arises from the peritoneum." []	566010	\N	\N	EFO	2	EFO	cancer	Peritoneal Mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000467	"A benign or malignant mesothelial neoplasm that arises from the peritoneum." []	1147354	\N	\N	EFO	3	EFO	neoplasm	Peritoneal Mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000467	"A benign or malignant mesothelial neoplasm that arises from the peritoneum." []	2029678	\N	\N	EFO	4	EFO	disease	Peritoneal Mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000467	"A benign or malignant mesothelial neoplasm that arises from the peritoneum." []	3180502	\N	\N	EFO	5	EFO	disposition	Peritoneal Mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000467	"A benign or malignant mesothelial neoplasm that arises from the peritoneum." []	4389241	\N	\N	EFO	6	EFO	material property	Peritoneal Mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000467	"A benign or malignant mesothelial neoplasm that arises from the peritoneum." []	5409208	\N	\N	EFO	7	EFO	experimental factor	Peritoneal Mesothelioma
EFO:1000468	\N	\N	"A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." []	EFO:1000468	"A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." []	70065	\N	\N	EFO	0	EFO	Peritoneal Multicystic Mesothelioma	Peritoneal Multicystic Mesothelioma
EFO:0000588	EFO:1000468	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:1000468	"A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." []	212411	\N	\N	EFO	1	EFO	mesothelioma	Peritoneal Multicystic Mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000468	"A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." []	566011	\N	\N	EFO	2	EFO	cancer	Peritoneal Multicystic Mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000468	"A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." []	1147355	\N	\N	EFO	3	EFO	neoplasm	Peritoneal Multicystic Mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000468	"A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." []	2029679	\N	\N	EFO	4	EFO	disease	Peritoneal Multicystic Mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000468	"A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." []	3180503	\N	\N	EFO	5	EFO	disposition	Peritoneal Multicystic Mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000468	"A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." []	4389242	\N	\N	EFO	6	EFO	material property	Peritoneal Multicystic Mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000468	"A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." []	5409209	\N	\N	EFO	7	EFO	experimental factor	Peritoneal Multicystic Mesothelioma
EFO:1000469	\N	\N	"A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." []	EFO:1000469	"A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." []	70066	\N	\N	EFO	0	EFO	Peritoneal Well Differentiated Papillary Mesothelioma	Peritoneal Well Differentiated Papillary Mesothelioma
EFO:0000588	EFO:1000469	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:1000469	"A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." []	212412	\N	\N	EFO	1	EFO	mesothelioma	Peritoneal Well Differentiated Papillary Mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000469	"A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." []	566012	\N	\N	EFO	2	EFO	cancer	Peritoneal Well Differentiated Papillary Mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000469	"A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." []	1147356	\N	\N	EFO	3	EFO	neoplasm	Peritoneal Well Differentiated Papillary Mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000469	"A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." []	2029680	\N	\N	EFO	4	EFO	disease	Peritoneal Well Differentiated Papillary Mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000469	"A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." []	3180504	\N	\N	EFO	5	EFO	disposition	Peritoneal Well Differentiated Papillary Mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000469	"A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." []	4389243	\N	\N	EFO	6	EFO	material property	Peritoneal Well Differentiated Papillary Mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000469	"A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." []	5409210	\N	\N	EFO	7	EFO	experimental factor	Peritoneal Well Differentiated Papillary Mesothelioma
EFO:1000470	\N	\N	"A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" []	EFO:1000470	"A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" []	70067	\N	\N	EFO	0	EFO	Peutz-Jeghers Polyp	Peutz-Jeghers Polyp
EFO:0000662	EFO:1000470	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000470	"A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" []	212413	\N	\N	EFO	1	EFO	polyp	Peutz-Jeghers Polyp
EFO:0003897	EFO:1000470	\N	"Tumors or cancer of the STOMACH." []	EFO:1000470	"A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" []	212414	\N	\N	EFO	1	EFO	stomach neoplasm	Peutz-Jeghers Polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000470	"A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" []	566013	\N	\N	EFO	2	EFO	neoplasm	Peutz-Jeghers Polyp
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000470	"A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" []	566014	\N	\N	EFO	2	EFO	digestive system disease	Peutz-Jeghers Polyp
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000470	"A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" []	566015	\N	\N	EFO	2	EFO	neoplasm	Peutz-Jeghers Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000470	"A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" []	1147357	\N	\N	EFO	3	EFO	disease	Peutz-Jeghers Polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000470	"A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" []	1147358	\N	\N	EFO	3	EFO	disease	Peutz-Jeghers Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000470	"A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" []	2029681	\N	\N	EFO	4	EFO	disposition	Peutz-Jeghers Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000470	"A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" []	3180505	\N	\N	EFO	5	EFO	material property	Peutz-Jeghers Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000470	"A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" []	4389244	\N	\N	EFO	6	EFO	experimental factor	Peutz-Jeghers Polyp
EFO:1000471	\N	\N	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	70068	\N	\N	EFO	0	EFO	Peutz-Jeghers Polyp of the Stomach	Peutz-Jeghers Polyp of the Stomach
EFO:0000662	EFO:1000471	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	212415	\N	\N	EFO	1	EFO	polyp	Peutz-Jeghers Polyp of the Stomach
EFO:0003897	EFO:1000471	\N	"Tumors or cancer of the STOMACH." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	212416	\N	\N	EFO	1	EFO	stomach neoplasm	Peutz-Jeghers Polyp of the Stomach
Orphanet:2869	EFO:1000471	\N	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	212417	\N	\N	EFO	1	EFO	Peutz-Jeghers syndrome	Peutz-Jeghers Polyp of the Stomach
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	566016	\N	\N	EFO	2	EFO	neoplasm	Peutz-Jeghers Polyp of the Stomach
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	566017	\N	\N	EFO	2	EFO	digestive system disease	Peutz-Jeghers Polyp of the Stomach
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	566018	\N	\N	EFO	2	EFO	neoplasm	Peutz-Jeghers Polyp of the Stomach
EFO:0004198	Orphanet:2869	\N	"Tumors or cancer of the SKIN." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	566019	\N	\N	EFO	2	EFO	skin neoplasm	Peutz-Jeghers Polyp of the Stomach
Orphanet:183422	Orphanet:2869	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	566020	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Peutz-Jeghers Polyp of the Stomach
Orphanet:183466	Orphanet:2869	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	566021	\N	\N	EFO	2	EFO	Genetic hyperpigmentation of the skin	Peutz-Jeghers Polyp of the Stomach
Orphanet:271835	Orphanet:2869	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	566022	\N	\N	EFO	2	EFO	Genetic digestive tract tumor	Peutz-Jeghers Polyp of the Stomach
Orphanet:363314	Orphanet:2869	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	566023	\N	\N	EFO	2	EFO	Genetic intestinal polyposis	Peutz-Jeghers Polyp of the Stomach
Orphanet:98196	Orphanet:2869	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	566024	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	Peutz-Jeghers Polyp of the Stomach
Orphanet:98587	Orphanet:2869	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	566025	\N	\N	EFO	2	EFO	Palpebral lentiginosis	Peutz-Jeghers Polyp of the Stomach
Orphanet:98615	Orphanet:2869	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	566026	\N	\N	EFO	2	EFO	Pigmented conjunctival lesion	Peutz-Jeghers Polyp of the Stomach
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	3180510	\N	\N	EFO	5	EFO	disease	Peutz-Jeghers Polyp of the Stomach
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	3180511	\N	\N	EFO	5	EFO	disease	Peutz-Jeghers Polyp of the Stomach
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	1147361	\N	\N	EFO	3	EFO	neoplasm	Peutz-Jeghers Polyp of the Stomach
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	1147362	\N	\N	EFO	3	EFO	skin disease	Peutz-Jeghers Polyp of the Stomach
Orphanet:140162	Orphanet:183422	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	1147363	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Peutz-Jeghers Polyp of the Stomach
Orphanet:183463	Orphanet:183466	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	1147364	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Peutz-Jeghers Polyp of the Stomach
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	1147365	\N	\N	EFO	3	EFO	digestive system disease	Peutz-Jeghers Polyp of the Stomach
Orphanet:68336	Orphanet:271835	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	1147366	\N	\N	EFO	3	EFO	Rare genetic tumor	Peutz-Jeghers Polyp of the Stomach
Orphanet:165655	Orphanet:363314	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	1147367	\N	\N	EFO	3	EFO	Genetic intestinal disease	Peutz-Jeghers Polyp of the Stomach
Orphanet:183530	Orphanet:98196	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	1147368	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Peutz-Jeghers Polyp of the Stomach
Orphanet:98586	Orphanet:98587	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	1147369	\N	\N	EFO	3	EFO	Pigmented palpebral tumor	Peutz-Jeghers Polyp of the Stomach
Orphanet:98610	Orphanet:98615	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	1147370	\N	\N	EFO	3	EFO	Rare conjunctival disease	Peutz-Jeghers Polyp of the Stomach
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	6778584	\N	\N	EFO	10	EFO	disposition	Peutz-Jeghers Polyp of the Stomach
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	4389247	\N	\N	EFO	6	EFO	disease	Peutz-Jeghers Polyp of the Stomach
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	2029685	\N	\N	EFO	4	EFO	genetic disorder	Peutz-Jeghers Polyp of the Stomach
Orphanet:68346	Orphanet:183463	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	2029686	\N	\N	EFO	4	EFO	Rare genetic skin disease	Peutz-Jeghers Polyp of the Stomach
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	2029688	\N	\N	EFO	4	EFO	genetic disorder	Peutz-Jeghers Polyp of the Stomach
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	2029689	\N	\N	EFO	4	EFO	neoplasm	Peutz-Jeghers Polyp of the Stomach
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	2029690	\N	\N	EFO	4	EFO	digestive system disease	Peutz-Jeghers Polyp of the Stomach
Orphanet:165652	Orphanet:165655	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	2029691	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Peutz-Jeghers Polyp of the Stomach
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	2029692	\N	\N	EFO	4	EFO	genetic disorder	Peutz-Jeghers Polyp of the Stomach
Orphanet:98580	Orphanet:98586	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	2029693	\N	\N	EFO	4	EFO	Palpebral tumor	Peutz-Jeghers Polyp of the Stomach
Orphanet:183598	Orphanet:98610	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	2029694	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Peutz-Jeghers Polyp of the Stomach
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	7008620	\N	\N	EFO	11	EFO	material property	Peutz-Jeghers Polyp of the Stomach
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	6469859	\N	\N	EFO	9	EFO	disease	Peutz-Jeghers Polyp of the Stomach
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	3180508	\N	\N	EFO	5	EFO	genetic disorder	Peutz-Jeghers Polyp of the Stomach
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	3180509	\N	\N	EFO	5	EFO	skin disease	Peutz-Jeghers Polyp of the Stomach
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	3180512	\N	\N	EFO	5	EFO	genetic disorder	Peutz-Jeghers Polyp of the Stomach
Orphanet:98560	Orphanet:98580	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	3180513	\N	\N	EFO	5	EFO	Rare palpebral disease	Peutz-Jeghers Polyp of the Stomach
Orphanet:101435	Orphanet:183598	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	5409211	\N	\N	EFO	7	EFO	Rare genetic eye disease	Peutz-Jeghers Polyp of the Stomach
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	7167523	\N	\N	EFO	12	EFO	experimental factor	Peutz-Jeghers Polyp of the Stomach
Orphanet:183598	Orphanet:98560	\N	"" []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	4389248	\N	\N	EFO	6	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Peutz-Jeghers Polyp of the Stomach
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	5876621	\N	\N	EFO	8	EFO	genetic disorder	Peutz-Jeghers Polyp of the Stomach
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	5876622	\N	\N	EFO	8	EFO	eye disease	Peutz-Jeghers Polyp of the Stomach
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000471	"A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." []	6469860	\N	\N	EFO	9	EFO	disease	Peutz-Jeghers Polyp of the Stomach
EFO:1000472	\N	\N	"An adenoid cystic carcinoma that arises from the pharynx." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	70069	\N	\N	EFO	0	EFO	Pharyngeal Adenoid Cystic Carcinoma	Pharyngeal Adenoid Cystic Carcinoma
EFO:0000231	EFO:1000472	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	212418	\N	\N	EFO	1	EFO	adenoid cystic carcinoma	Pharyngeal Adenoid Cystic Carcinoma
EFO:0000405	EFO:1000472	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	212419	\N	\N	EFO	1	EFO	digestive system disease	Pharyngeal Adenoid Cystic Carcinoma
EFO:0003853	EFO:1000472	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	212420	\N	\N	EFO	1	EFO	respiratory system neoplasm	Pharyngeal Adenoid Cystic Carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	566027	\N	\N	EFO	2	EFO	carcinoma	Pharyngeal Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	566028	\N	\N	EFO	2	EFO	disease	Pharyngeal Adenoid Cystic Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	566029	\N	\N	EFO	2	EFO	neoplasm	Pharyngeal Adenoid Cystic Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	566030	\N	\N	EFO	2	EFO	respiratory system disease	Pharyngeal Adenoid Cystic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	1147371	\N	\N	EFO	3	EFO	cancer	Pharyngeal Adenoid Cystic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	1147372	\N	\N	EFO	3	EFO	epithelial neoplasm	Pharyngeal Adenoid Cystic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	4066775	\N	\N	EFO	6	EFO	disposition	Pharyngeal Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	3180515	\N	\N	EFO	5	EFO	disease	Pharyngeal Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	1147375	\N	\N	EFO	3	EFO	disease	Pharyngeal Adenoid Cystic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	2029695	\N	\N	EFO	4	EFO	neoplasm	Pharyngeal Adenoid Cystic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	2029696	\N	\N	EFO	4	EFO	neoplasm	Pharyngeal Adenoid Cystic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	5028354	\N	\N	EFO	7	EFO	material property	Pharyngeal Adenoid Cystic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000472	"An adenoid cystic carcinoma that arises from the pharynx." []	5817396	\N	\N	EFO	8	EFO	experimental factor	Pharyngeal Adenoid Cystic Carcinoma
EFO:1000473	\N	\N	"An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." []	EFO:1000473	"An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." []	70070	\N	\N	EFO	0	EFO	Phosphaturic Mesenchymal Tumor	Phosphaturic Mesenchymal Tumor
EFO:0000616	EFO:1000473	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000473	"An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." []	212421	\N	\N	EFO	1	EFO	neoplasm	Phosphaturic Mesenchymal Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000473	"An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." []	566031	\N	\N	EFO	2	EFO	disease	Phosphaturic Mesenchymal Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000473	"An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." []	1147376	\N	\N	EFO	3	EFO	disposition	Phosphaturic Mesenchymal Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000473	"An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." []	2029699	\N	\N	EFO	4	EFO	material property	Phosphaturic Mesenchymal Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000473	"An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." []	3180517	\N	\N	EFO	5	EFO	experimental factor	Phosphaturic Mesenchymal Tumor
EFO:1000474	\N	\N	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	70071	\N	\N	EFO	0	EFO	Pineal Parenchymal Tumor of Intermediate Differentiation	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000313	EFO:1000474	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	212422	\N	\N	EFO	1	EFO	carcinoma	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000326	EFO:1000474	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	212423	\N	\N	EFO	1	EFO	central nervous system cancer	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0003769	EFO:1000474	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	212424	\N	\N	EFO	1	EFO	endocrine neoplasm	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0003833	EFO:1000474	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	212425	\N	\N	EFO	1	EFO	brain neoplasm	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	566032	\N	\N	EFO	2	EFO	cancer	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	566033	\N	\N	EFO	2	EFO	epithelial neoplasm	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	566034	\N	\N	EFO	2	EFO	cancer	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	566035	\N	\N	EFO	2	EFO	nervous system disease	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	566036	\N	\N	EFO	2	EFO	neoplasm	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	566037	\N	\N	EFO	2	EFO	endocrine system disease	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	566038	\N	\N	EFO	2	EFO	neoplasm	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	566039	\N	\N	EFO	2	EFO	brain disease	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	1147377	\N	\N	EFO	3	EFO	neoplasm	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	1147378	\N	\N	EFO	3	EFO	neoplasm	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	2029702	\N	\N	EFO	4	EFO	disease	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	2029700	\N	\N	EFO	4	EFO	disease	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	1147381	\N	\N	EFO	3	EFO	disease	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	1147382	\N	\N	EFO	3	EFO	nervous system disease	Pineal Parenchymal Tumor of Intermediate Differentiation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	3000009	\N	\N	EFO	5	EFO	disposition	Pineal Parenchymal Tumor of Intermediate Differentiation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	4132977	\N	\N	EFO	6	EFO	material property	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000474	"A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" []	5181240	\N	\N	EFO	7	EFO	experimental factor	Pineal Parenchymal Tumor of Intermediate Differentiation
EFO:1000475	\N	\N	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	70072	\N	\N	EFO	0	EFO	Pineoblastoma	Pineoblastoma
EFO:0000313	EFO:1000475	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	212426	\N	\N	EFO	1	EFO	carcinoma	Pineoblastoma
EFO:0000326	EFO:1000475	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	212427	\N	\N	EFO	1	EFO	central nervous system cancer	Pineoblastoma
EFO:0003769	EFO:1000475	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	212428	\N	\N	EFO	1	EFO	endocrine neoplasm	Pineoblastoma
EFO:0003833	EFO:1000475	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	212429	\N	\N	EFO	1	EFO	brain neoplasm	Pineoblastoma
EFO:0005784	EFO:1000475	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	212430	\N	\N	EFO	1	EFO	embryonal neoplasm	Pineoblastoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	566040	\N	\N	EFO	2	EFO	cancer	Pineoblastoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	566041	\N	\N	EFO	2	EFO	epithelial neoplasm	Pineoblastoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	566042	\N	\N	EFO	2	EFO	cancer	Pineoblastoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	566043	\N	\N	EFO	2	EFO	nervous system disease	Pineoblastoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	566044	\N	\N	EFO	2	EFO	neoplasm	Pineoblastoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	566045	\N	\N	EFO	2	EFO	endocrine system disease	Pineoblastoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	566046	\N	\N	EFO	2	EFO	neoplasm	Pineoblastoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	566047	\N	\N	EFO	2	EFO	brain disease	Pineoblastoma
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	566048	\N	\N	EFO	2	EFO	neoplasm	Pineoblastoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	1147383	\N	\N	EFO	3	EFO	neoplasm	Pineoblastoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	1147384	\N	\N	EFO	3	EFO	neoplasm	Pineoblastoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	2029705	\N	\N	EFO	4	EFO	disease	Pineoblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	2029703	\N	\N	EFO	4	EFO	disease	Pineoblastoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	1147387	\N	\N	EFO	3	EFO	disease	Pineoblastoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	1147388	\N	\N	EFO	3	EFO	nervous system disease	Pineoblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	3000010	\N	\N	EFO	5	EFO	disposition	Pineoblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	4132978	\N	\N	EFO	6	EFO	material property	Pineoblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000475	"A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course." []	5181241	\N	\N	EFO	7	EFO	experimental factor	Pineoblastoma
EFO:1000476	\N	\N	"A WHO grade I slow growing tumor, more frequently affecting young adults. It is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. Pineocytoma generally has a relatively favorable prognosis. (Adapted from WHO)" []	EFO:1000476	"A WHO grade I slow growing tumor, more frequently affecting young adults. It is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. Pineocytoma generally has a relatively favorable prognosis. (Adapted from WHO)" []	70073	\N	\N	EFO	0	EFO	Pineocytoma	Pineocytoma
EFO:0000616	EFO:1000476	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000476	"A WHO grade I slow growing tumor, more frequently affecting young adults. It is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. Pineocytoma generally has a relatively favorable prognosis. (Adapted from WHO)" []	212431	\N	\N	EFO	1	EFO	neoplasm	Pineocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000476	"A WHO grade I slow growing tumor, more frequently affecting young adults. It is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. Pineocytoma generally has a relatively favorable prognosis. (Adapted from WHO)" []	566049	\N	\N	EFO	2	EFO	disease	Pineocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000476	"A WHO grade I slow growing tumor, more frequently affecting young adults. It is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. Pineocytoma generally has a relatively favorable prognosis. (Adapted from WHO)" []	1147389	\N	\N	EFO	3	EFO	disposition	Pineocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000476	"A WHO grade I slow growing tumor, more frequently affecting young adults. It is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. Pineocytoma generally has a relatively favorable prognosis. (Adapted from WHO)" []	2029706	\N	\N	EFO	4	EFO	material property	Pineocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000476	"A WHO grade I slow growing tumor, more frequently affecting young adults. It is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. Pineocytoma generally has a relatively favorable prognosis. (Adapted from WHO)" []	3180520	\N	\N	EFO	5	EFO	experimental factor	Pineocytoma
EFO:1000477	\N	\N	"An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." []	EFO:1000477	"An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." []	70074	\N	\N	EFO	0	EFO	Pituicytoma	Pituicytoma
EFO:0000313	EFO:1000477	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000477	"An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." []	212432	\N	\N	EFO	1	EFO	carcinoma	Pituicytoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000477	"An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." []	566050	\N	\N	EFO	2	EFO	cancer	Pituicytoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000477	"An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." []	566051	\N	\N	EFO	2	EFO	epithelial neoplasm	Pituicytoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000477	"An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." []	1147390	\N	\N	EFO	3	EFO	neoplasm	Pituicytoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000477	"An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." []	1147391	\N	\N	EFO	3	EFO	neoplasm	Pituicytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000477	"An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." []	2029707	\N	\N	EFO	4	EFO	disease	Pituicytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000477	"An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." []	3180521	\N	\N	EFO	5	EFO	disposition	Pituicytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000477	"An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." []	4389253	\N	\N	EFO	6	EFO	material property	Pituicytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000477	"An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." []	5409214	\N	\N	EFO	7	EFO	experimental factor	Pituicytoma
EFO:1000478	\N	\N	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	70075	\N	\N	EFO	0	EFO	Pituitary Gland Adenoma	Pituitary Gland Adenoma
EFO:0000232	EFO:1000478	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	212433	\N	\N	EFO	1	EFO	adenoma	Pituitary Gland Adenoma
EFO:0003769	EFO:1000478	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	212434	\N	\N	EFO	1	EFO	endocrine neoplasm	Pituitary Gland Adenoma
EFO:0003833	EFO:1000478	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	212435	\N	\N	EFO	1	EFO	brain neoplasm	Pituitary Gland Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	566052	\N	\N	EFO	2	EFO	benign neoplasm	Pituitary Gland Adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	566053	\N	\N	EFO	2	EFO	neoplasm	Pituitary Gland Adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	566054	\N	\N	EFO	2	EFO	endocrine system disease	Pituitary Gland Adenoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	566055	\N	\N	EFO	2	EFO	neoplasm	Pituitary Gland Adenoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	566056	\N	\N	EFO	2	EFO	brain disease	Pituitary Gland Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	1147392	\N	\N	EFO	3	EFO	neoplasm	Pituitary Gland Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	2029708	\N	\N	EFO	4	EFO	disease	Pituitary Gland Adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	1147394	\N	\N	EFO	3	EFO	disease	Pituitary Gland Adenoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	1147395	\N	\N	EFO	3	EFO	nervous system disease	Pituitary Gland Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	3000011	\N	\N	EFO	5	EFO	disposition	Pituitary Gland Adenoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	2029710	\N	\N	EFO	4	EFO	disease	Pituitary Gland Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	4132979	\N	\N	EFO	6	EFO	material property	Pituitary Gland Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000478	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	5181242	\N	\N	EFO	7	EFO	experimental factor	Pituitary Gland Adenoma
EFO:1000479	\N	\N	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	70076	\N	\N	EFO	0	EFO	Placental Choriocarcinoma	Placental Choriocarcinoma
EFO:0002893	EFO:1000479	\N	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	212436	\N	\N	EFO	1	EFO	choriocarcinoma	Placental Choriocarcinoma
EFO:0007441	EFO:1000479	\N	"a disease located in the placenta" []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	212437	\N	\N	EFO	1	EFO	placenta disease	Placental Choriocarcinoma
EFO:0000514	EFO:0002893	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	566057	\N	\N	EFO	2	EFO	germ cell tumor	Placental Choriocarcinoma
EFO:0003859	EFO:0002893	\N	"Tumors or cancer of the UTERUS." []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	566058	\N	\N	EFO	2	EFO	uterine neoplasm	Placental Choriocarcinoma
EFO:0000512	EFO:0007441	\N	"any diease of the reproductive system" []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	566059	\N	\N	EFO	2	EFO	reproductive system disease	Placental Choriocarcinoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	1147396	\N	\N	EFO	3	EFO	neoplasm	Placental Choriocarcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	1147397	\N	\N	EFO	3	EFO	reproductive system disease	Placental Choriocarcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	1147398	\N	\N	EFO	3	EFO	urogenital neoplasm	Placental Choriocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	2029712	\N	\N	EFO	4	EFO	disease	Placental Choriocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	3180523	\N	\N	EFO	5	EFO	disease	Placental Choriocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	2029713	\N	\N	EFO	4	EFO	neoplasm	Placental Choriocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	4132980	\N	\N	EFO	6	EFO	disposition	Placental Choriocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	5059455	\N	\N	EFO	7	EFO	material property	Placental Choriocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000479	"Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." []	5876623	\N	\N	EFO	8	EFO	experimental factor	Placental Choriocarcinoma
EFO:1000480	\N	\N	"A hemangioma arising from the fetal blood vessels in the placental villi." []	EFO:1000480	"A hemangioma arising from the fetal blood vessels in the placental villi." []	70077	\N	\N	EFO	0	EFO	Placental Hemangioma	Placental Hemangioma
EFO:0000616	EFO:1000480	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000480	"A hemangioma arising from the fetal blood vessels in the placental villi." []	212438	\N	\N	EFO	1	EFO	neoplasm	Placental Hemangioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000480	"A hemangioma arising from the fetal blood vessels in the placental villi." []	566060	\N	\N	EFO	2	EFO	disease	Placental Hemangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000480	"A hemangioma arising from the fetal blood vessels in the placental villi." []	1147400	\N	\N	EFO	3	EFO	disposition	Placental Hemangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000480	"A hemangioma arising from the fetal blood vessels in the placental villi." []	2029715	\N	\N	EFO	4	EFO	material property	Placental Hemangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000480	"A hemangioma arising from the fetal blood vessels in the placental villi." []	3180525	\N	\N	EFO	5	EFO	experimental factor	Placental Hemangioma
EFO:1000481	\N	\N	"A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." []	EFO:1000481	"A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." []	70078	\N	\N	EFO	0	EFO	Plantar Fibromatosis	Plantar Fibromatosis
EFO:0000497	EFO:1000481	\N	"A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." []	EFO:1000481	"A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." []	212439	\N	\N	EFO	1	EFO	fibromatosis	Plantar Fibromatosis
EFO:0000616	EFO:0000497	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000481	"A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." []	566061	\N	\N	EFO	2	EFO	neoplasm	Plantar Fibromatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000481	"A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." []	1147401	\N	\N	EFO	3	EFO	disease	Plantar Fibromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000481	"A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." []	2029716	\N	\N	EFO	4	EFO	disposition	Plantar Fibromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000481	"A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." []	3180526	\N	\N	EFO	5	EFO	material property	Plantar Fibromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000481	"A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." []	4389256	\N	\N	EFO	6	EFO	experimental factor	Plantar Fibromatosis
EFO:1000483	\N	\N	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	EFO:1000483	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	70079	\N	\N	EFO	0	EFO	Pleural Biphasic Mesothelioma	Pleural Biphasic Mesothelioma
EFO:0000588	EFO:1000483	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:1000483	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	212440	\N	\N	EFO	1	EFO	mesothelioma	Pleural Biphasic Mesothelioma
EFO:0003853	EFO:1000483	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000483	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	212441	\N	\N	EFO	1	EFO	respiratory system neoplasm	Pleural Biphasic Mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000483	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	566062	\N	\N	EFO	2	EFO	cancer	Pleural Biphasic Mesothelioma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000483	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	566063	\N	\N	EFO	2	EFO	neoplasm	Pleural Biphasic Mesothelioma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000483	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	566064	\N	\N	EFO	2	EFO	respiratory system disease	Pleural Biphasic Mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000483	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	1147402	\N	\N	EFO	3	EFO	neoplasm	Pleural Biphasic Mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000483	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	2029717	\N	\N	EFO	4	EFO	disease	Pleural Biphasic Mesothelioma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000483	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	1147404	\N	\N	EFO	3	EFO	disease	Pleural Biphasic Mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000483	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	3000013	\N	\N	EFO	5	EFO	disposition	Pleural Biphasic Mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000483	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	4132982	\N	\N	EFO	6	EFO	material property	Pleural Biphasic Mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000483	"Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." []	5181244	\N	\N	EFO	7	EFO	experimental factor	Pleural Biphasic Mesothelioma
EFO:1000484	\N	\N	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." []	EFO:1000484	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." []	70080	\N	\N	EFO	0	EFO	Pleural Epithelioid Mesothelioma	Pleural Epithelioid Mesothelioma
EFO:1000351	EFO:1000484	\N	"" []	EFO:1000484	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." []	212442	\N	\N	EFO	1	EFO	malignant epitheloid mesothelioma	Pleural Epithelioid Mesothelioma
EFO:0000408	EFO:1000351	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000484	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." []	566065	\N	\N	EFO	2	EFO	disease	Pleural Epithelioid Mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000484	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." []	1147405	\N	\N	EFO	3	EFO	disposition	Pleural Epithelioid Mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000484	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." []	2029719	\N	\N	EFO	4	EFO	material property	Pleural Epithelioid Mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000484	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." []	3180528	\N	\N	EFO	5	EFO	experimental factor	Pleural Epithelioid Mesothelioma
EFO:1000485	\N	\N	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	EFO:1000485	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	70081	\N	\N	EFO	0	EFO	Pleural Mesothelioma	Pleural Mesothelioma
EFO:0000588	EFO:1000485	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:1000485	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	212443	\N	\N	EFO	1	EFO	mesothelioma	Pleural Mesothelioma
EFO:0003853	EFO:1000485	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000485	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	212444	\N	\N	EFO	1	EFO	respiratory system neoplasm	Pleural Mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000485	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	566066	\N	\N	EFO	2	EFO	cancer	Pleural Mesothelioma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000485	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	566067	\N	\N	EFO	2	EFO	neoplasm	Pleural Mesothelioma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000485	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	566068	\N	\N	EFO	2	EFO	respiratory system disease	Pleural Mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000485	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	1147406	\N	\N	EFO	3	EFO	neoplasm	Pleural Mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000485	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	2029720	\N	\N	EFO	4	EFO	disease	Pleural Mesothelioma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000485	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	1147408	\N	\N	EFO	3	EFO	disease	Pleural Mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000485	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	3000014	\N	\N	EFO	5	EFO	disposition	Pleural Mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000485	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	4132983	\N	\N	EFO	6	EFO	material property	Pleural Mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000485	"A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." []	5181245	\N	\N	EFO	7	EFO	experimental factor	Pleural Mesothelioma
EFO:1000486	\N	\N	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	EFO:1000486	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	70082	\N	\N	EFO	0	EFO	Pleural Sarcomatoid Mesothelioma	Pleural Sarcomatoid Mesothelioma
EFO:0000588	EFO:1000486	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:1000486	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	212445	\N	\N	EFO	1	EFO	mesothelioma	Pleural Sarcomatoid Mesothelioma
EFO:0003853	EFO:1000486	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000486	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	212446	\N	\N	EFO	1	EFO	respiratory system neoplasm	Pleural Sarcomatoid Mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000486	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	566069	\N	\N	EFO	2	EFO	cancer	Pleural Sarcomatoid Mesothelioma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000486	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	566070	\N	\N	EFO	2	EFO	neoplasm	Pleural Sarcomatoid Mesothelioma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000486	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	566071	\N	\N	EFO	2	EFO	respiratory system disease	Pleural Sarcomatoid Mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000486	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	1147409	\N	\N	EFO	3	EFO	neoplasm	Pleural Sarcomatoid Mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000486	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	2029722	\N	\N	EFO	4	EFO	disease	Pleural Sarcomatoid Mesothelioma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000486	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	1147411	\N	\N	EFO	3	EFO	disease	Pleural Sarcomatoid Mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000486	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	3000015	\N	\N	EFO	5	EFO	disposition	Pleural Sarcomatoid Mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000486	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	4132984	\N	\N	EFO	6	EFO	material property	Pleural Sarcomatoid Mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000486	"Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." []	5181246	\N	\N	EFO	7	EFO	experimental factor	Pleural Sarcomatoid Mesothelioma
EFO:1000487	\N	\N	"A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma." []	EFO:1000487	"A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma." []	70083	\N	\N	EFO	0	EFO	Plexiform Ameloblastoma	Plexiform Ameloblastoma
EFO:0000616	EFO:1000487	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000487	"A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma." []	212447	\N	\N	EFO	1	EFO	neoplasm	Plexiform Ameloblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000487	"A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma." []	566072	\N	\N	EFO	2	EFO	disease	Plexiform Ameloblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000487	"A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma." []	1147412	\N	\N	EFO	3	EFO	disposition	Plexiform Ameloblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000487	"A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma." []	2029724	\N	\N	EFO	4	EFO	material property	Plexiform Ameloblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000487	"A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma." []	3180531	\N	\N	EFO	5	EFO	experimental factor	Plexiform Ameloblastoma
EFO:1000488	\N	\N	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	70084	\N	\N	EFO	0	EFO	Polar Spongioblastoma	Polar Spongioblastoma
EFO:0000519	EFO:1000488	\N	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	212448	\N	\N	EFO	1	EFO	glioblastoma multiforme	Polar Spongioblastoma
EFO:0000272	EFO:0000519	\N	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	566073	\N	\N	EFO	2	EFO	astrocytoma	Polar Spongioblastoma
EFO:0005543	EFO:0000272	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	1147413	\N	\N	EFO	3	EFO	glioma	Polar Spongioblastoma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	2029725	\N	\N	EFO	4	EFO	central nervous system cancer	Polar Spongioblastoma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	2029726	\N	\N	EFO	4	EFO	brain neoplasm	Polar Spongioblastoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	3180532	\N	\N	EFO	5	EFO	cancer	Polar Spongioblastoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	3180533	\N	\N	EFO	5	EFO	nervous system disease	Polar Spongioblastoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	3180534	\N	\N	EFO	5	EFO	neoplasm	Polar Spongioblastoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	3180535	\N	\N	EFO	5	EFO	brain disease	Polar Spongioblastoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	4389260	\N	\N	EFO	6	EFO	neoplasm	Polar Spongioblastoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	5409217	\N	\N	EFO	7	EFO	disease	Polar Spongioblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	5409215	\N	\N	EFO	7	EFO	disease	Polar Spongioblastoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	4389263	\N	\N	EFO	6	EFO	nervous system disease	Polar Spongioblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	5996711	\N	\N	EFO	8	EFO	disposition	Polar Spongioblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	6550405	\N	\N	EFO	9	EFO	material property	Polar Spongioblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000488	"A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity." []	6888982	\N	\N	EFO	10	EFO	experimental factor	Polar Spongioblastoma
EFO:1000489	\N	\N	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	70085	\N	\N	EFO	0	EFO	Poorly Differentiated Thyroid Gland Carcinoma	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0000228	EFO:1000489	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	212449	\N	\N	EFO	1	EFO	adenocarcinoma	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0002892	EFO:1000489	\N	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	212450	\N	\N	EFO	1	EFO	thyroid carcinoma	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	566074	\N	\N	EFO	2	EFO	carcinoma	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0000313	EFO:0002892	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	566075	\N	\N	EFO	2	EFO	carcinoma	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0003841	EFO:0002892	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	566076	\N	\N	EFO	2	EFO	thyroid neoplasm	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	1147414	\N	\N	EFO	3	EFO	cancer	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	1147415	\N	\N	EFO	3	EFO	epithelial neoplasm	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	1147416	\N	\N	EFO	3	EFO	endocrine neoplasm	Poorly Differentiated Thyroid Gland Carcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	1147417	\N	\N	EFO	3	EFO	thyroid disease	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	2029727	\N	\N	EFO	4	EFO	neoplasm	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	2029728	\N	\N	EFO	4	EFO	neoplasm	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	2029729	\N	\N	EFO	4	EFO	neoplasm	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	2029730	\N	\N	EFO	4	EFO	endocrine system disease	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	2029731	\N	\N	EFO	4	EFO	endocrine system disease	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	3180536	\N	\N	EFO	5	EFO	disease	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	3180537	\N	\N	EFO	5	EFO	disease	Poorly Differentiated Thyroid Gland Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	4389264	\N	\N	EFO	6	EFO	disposition	Poorly Differentiated Thyroid Gland Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	5409218	\N	\N	EFO	7	EFO	material property	Poorly Differentiated Thyroid Gland Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000489	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	6147599	\N	\N	EFO	8	EFO	experimental factor	Poorly Differentiated Thyroid Gland Carcinoma
EFO:1000490	\N	\N	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	70086	\N	\N	EFO	0	EFO	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0000403	EFO:1000490	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	212451	\N	\N	EFO	1	EFO	diffuse large B-cell lymphoma	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0004198	EFO:1000490	\N	"Tumors or cancer of the SKIN." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	212452	\N	\N	EFO	1	EFO	skin neoplasm	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0000096	EFO:0000403	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	566077	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0000574	EFO:0000403	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	566078	\N	\N	EFO	2	EFO	lymphoma	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	566079	\N	\N	EFO	2	EFO	neoplasm	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	566080	\N	\N	EFO	2	EFO	skin disease	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	1147418	\N	\N	EFO	3	EFO	lymphoid neoplasm	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	1147419	\N	\N	EFO	3	EFO	lymphoid neoplasm	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	4389265	\N	\N	EFO	6	EFO	disease	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	1147421	\N	\N	EFO	3	EFO	disease	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	2029732	\N	\N	EFO	4	EFO	cancer	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	2029733	\N	\N	EFO	4	EFO	hematological system disease	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	5028355	\N	\N	EFO	7	EFO	disposition	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	3180538	\N	\N	EFO	5	EFO	neoplasm	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	3180539	\N	\N	EFO	5	EFO	disease	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	5817397	\N	\N	EFO	8	EFO	material property	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000490	"An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." []	6409767	\N	\N	EFO	9	EFO	experimental factor	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
EFO:1000491	\N	\N	"An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable." []	EFO:1000491	"An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable." []	70087	\N	\N	EFO	0	EFO	Primary Effusion Lymphoma	Primary Effusion Lymphoma
EFO:0000574	EFO:1000491	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000491	"An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable." []	212453	\N	\N	EFO	1	EFO	lymphoma	Primary Effusion Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000491	"An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable." []	566081	\N	\N	EFO	2	EFO	lymphoid neoplasm	Primary Effusion Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000491	"An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable." []	1147422	\N	\N	EFO	3	EFO	cancer	Primary Effusion Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000491	"An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable." []	1147423	\N	\N	EFO	3	EFO	hematological system disease	Primary Effusion Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000491	"An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable." []	2029735	\N	\N	EFO	4	EFO	neoplasm	Primary Effusion Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000491	"An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable." []	2029736	\N	\N	EFO	4	EFO	disease	Primary Effusion Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000491	"An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable." []	3180541	\N	\N	EFO	5	EFO	disease	Primary Effusion Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000491	"An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable." []	4389268	\N	\N	EFO	6	EFO	disposition	Primary Effusion Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000491	"An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable." []	5181247	\N	\N	EFO	7	EFO	material property	Primary Effusion Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000491	"An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable." []	5996712	\N	\N	EFO	8	EFO	experimental factor	Primary Effusion Lymphoma
EFO:1000492	\N	\N	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	70088	\N	\N	EFO	0	EFO	Primary Intraosseous Squamous Cell Carcinoma	Primary Intraosseous Squamous Cell Carcinoma
EFO:0000181	EFO:1000492	\N	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	212454	\N	\N	EFO	1	EFO	head and neck squamous cell carcinoma	Primary Intraosseous Squamous Cell Carcinoma
EFO:0000707	EFO:0000181	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	566082	\N	\N	EFO	2	EFO	squamous cell carcinoma	Primary Intraosseous Squamous Cell Carcinoma
EFO:0005950	EFO:0000181	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	566083	\N	\N	EFO	2	EFO	head and neck neoplasia	Primary Intraosseous Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	1147424	\N	\N	EFO	3	EFO	carcinoma	Primary Intraosseous Squamous Cell Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	1147425	\N	\N	EFO	3	EFO	head disease	Primary Intraosseous Squamous Cell Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	1147426	\N	\N	EFO	3	EFO	neoplasm	Primary Intraosseous Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	2029737	\N	\N	EFO	4	EFO	cancer	Primary Intraosseous Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	2029738	\N	\N	EFO	4	EFO	epithelial neoplasm	Primary Intraosseous Squamous Cell Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	2029739	\N	\N	EFO	4	EFO	disease	Primary Intraosseous Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	4389270	\N	\N	EFO	6	EFO	disease	Primary Intraosseous Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	3180543	\N	\N	EFO	5	EFO	neoplasm	Primary Intraosseous Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	3180544	\N	\N	EFO	5	EFO	neoplasm	Primary Intraosseous Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	5059457	\N	\N	EFO	7	EFO	disposition	Primary Intraosseous Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	5876625	\N	\N	EFO	8	EFO	material property	Primary Intraosseous Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000492	"A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." []	6469861	\N	\N	EFO	9	EFO	experimental factor	Primary Intraosseous Squamous Cell Carcinoma
EFO:1000493	\N	\N	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	70089	\N	\N	EFO	0	EFO	Primary Melanocytic Lesion of Meninges	Primary Melanocytic Lesion of Meninges
Orphanet:2495	EFO:1000493	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	212455	\N	\N	EFO	1	EFO	Meningioma	Primary Melanocytic Lesion of Meninges
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	566084	\N	\N	EFO	2	EFO	endocrine neoplasm	Primary Melanocytic Lesion of Meninges
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	566085	\N	\N	EFO	2	EFO	meningeal neoplasm	Primary Melanocytic Lesion of Meninges
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	1147427	\N	\N	EFO	3	EFO	neoplasm	Primary Melanocytic Lesion of Meninges
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	1147428	\N	\N	EFO	3	EFO	endocrine system disease	Primary Melanocytic Lesion of Meninges
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	1147429	\N	\N	EFO	3	EFO	brain neoplasm	Primary Melanocytic Lesion of Meninges
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	3180547	\N	\N	EFO	5	EFO	disease	Primary Melanocytic Lesion of Meninges
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	2029742	\N	\N	EFO	4	EFO	disease	Primary Melanocytic Lesion of Meninges
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	2029743	\N	\N	EFO	4	EFO	neoplasm	Primary Melanocytic Lesion of Meninges
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	2029744	\N	\N	EFO	4	EFO	brain disease	Primary Melanocytic Lesion of Meninges
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	5409222	\N	\N	EFO	7	EFO	disposition	Primary Melanocytic Lesion of Meninges
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	3180548	\N	\N	EFO	5	EFO	nervous system disease	Primary Melanocytic Lesion of Meninges
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	5876626	\N	\N	EFO	8	EFO	material property	Primary Melanocytic Lesion of Meninges
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	4389273	\N	\N	EFO	6	EFO	disease	Primary Melanocytic Lesion of Meninges
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000493	"A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma." []	6469862	\N	\N	EFO	9	EFO	experimental factor	Primary Melanocytic Lesion of Meninges
EFO:1000494	\N	\N	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	EFO:1000494	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	70090	\N	\N	EFO	0	EFO	Primary Peritoneal Serous Adenocarcinoma	Primary Peritoneal Serous Adenocarcinoma
EFO:0003825	EFO:1000494	\N	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	EFO:1000494	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	212456	\N	\N	EFO	1	EFO	serous adenocarcinoma	Primary Peritoneal Serous Adenocarcinoma
EFO:0000228	EFO:0003825	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000494	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	566086	\N	\N	EFO	2	EFO	adenocarcinoma	Primary Peritoneal Serous Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000494	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	1147430	\N	\N	EFO	3	EFO	carcinoma	Primary Peritoneal Serous Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000494	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	2029745	\N	\N	EFO	4	EFO	cancer	Primary Peritoneal Serous Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000494	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	2029746	\N	\N	EFO	4	EFO	epithelial neoplasm	Primary Peritoneal Serous Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000494	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	3180549	\N	\N	EFO	5	EFO	neoplasm	Primary Peritoneal Serous Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000494	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	3180550	\N	\N	EFO	5	EFO	neoplasm	Primary Peritoneal Serous Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000494	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	4389274	\N	\N	EFO	6	EFO	disease	Primary Peritoneal Serous Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000494	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	5409223	\N	\N	EFO	7	EFO	disposition	Primary Peritoneal Serous Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000494	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	6147600	\N	\N	EFO	8	EFO	material property	Primary Peritoneal Serous Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000494	"A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." []	6631873	\N	\N	EFO	9	EFO	experimental factor	Primary Peritoneal Serous Adenocarcinoma
EFO:1000495	\N	\N	"A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." []	EFO:1000495	"A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." []	70091	\N	\N	EFO	0	EFO	Primary Pulmonary Diffuse Large B-Cell Lymphoma	Primary Pulmonary Diffuse Large B-Cell Lymphoma
EFO:0000574	EFO:1000495	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000495	"A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." []	212457	\N	\N	EFO	1	EFO	lymphoma	Primary Pulmonary Diffuse Large B-Cell Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000495	"A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." []	566087	\N	\N	EFO	2	EFO	lymphoid neoplasm	Primary Pulmonary Diffuse Large B-Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000495	"A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." []	1147431	\N	\N	EFO	3	EFO	cancer	Primary Pulmonary Diffuse Large B-Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000495	"A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." []	1147432	\N	\N	EFO	3	EFO	hematological system disease	Primary Pulmonary Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000495	"A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." []	2029747	\N	\N	EFO	4	EFO	neoplasm	Primary Pulmonary Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000495	"A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." []	2029748	\N	\N	EFO	4	EFO	disease	Primary Pulmonary Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000495	"A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." []	3180551	\N	\N	EFO	5	EFO	disease	Primary Pulmonary Diffuse Large B-Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000495	"A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." []	4389275	\N	\N	EFO	6	EFO	disposition	Primary Pulmonary Diffuse Large B-Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000495	"A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." []	5181249	\N	\N	EFO	7	EFO	material property	Primary Pulmonary Diffuse Large B-Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000495	"A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." []	5996714	\N	\N	EFO	8	EFO	experimental factor	Primary Pulmonary Diffuse Large B-Cell Lymphoma
EFO:1000496	\N	\N	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	70092	\N	\N	EFO	0	EFO	Prolactin-Producing Pituitary Gland Adenoma	Prolactin-Producing Pituitary Gland Adenoma
EFO:0000232	EFO:1000496	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	212458	\N	\N	EFO	1	EFO	adenoma	Prolactin-Producing Pituitary Gland Adenoma
EFO:0003769	EFO:1000496	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	212459	\N	\N	EFO	1	EFO	endocrine neoplasm	Prolactin-Producing Pituitary Gland Adenoma
EFO:0003833	EFO:1000496	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	212460	\N	\N	EFO	1	EFO	brain neoplasm	Prolactin-Producing Pituitary Gland Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	566088	\N	\N	EFO	2	EFO	benign neoplasm	Prolactin-Producing Pituitary Gland Adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	566089	\N	\N	EFO	2	EFO	neoplasm	Prolactin-Producing Pituitary Gland Adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	566090	\N	\N	EFO	2	EFO	endocrine system disease	Prolactin-Producing Pituitary Gland Adenoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	566091	\N	\N	EFO	2	EFO	neoplasm	Prolactin-Producing Pituitary Gland Adenoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	566092	\N	\N	EFO	2	EFO	brain disease	Prolactin-Producing Pituitary Gland Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	1147433	\N	\N	EFO	3	EFO	neoplasm	Prolactin-Producing Pituitary Gland Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	2029749	\N	\N	EFO	4	EFO	disease	Prolactin-Producing Pituitary Gland Adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	1147435	\N	\N	EFO	3	EFO	disease	Prolactin-Producing Pituitary Gland Adenoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	1147436	\N	\N	EFO	3	EFO	nervous system disease	Prolactin-Producing Pituitary Gland Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	3000016	\N	\N	EFO	5	EFO	disposition	Prolactin-Producing Pituitary Gland Adenoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	2029751	\N	\N	EFO	4	EFO	disease	Prolactin-Producing Pituitary Gland Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	4132986	\N	\N	EFO	6	EFO	material property	Prolactin-Producing Pituitary Gland Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000496	"An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances." []	5181250	\N	\N	EFO	7	EFO	experimental factor	Prolactin-Producing Pituitary Gland Adenoma
EFO:1000497	\N	\N	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	70093	\N	\N	EFO	0	EFO	Prolactin-Producing Pituitary Gland Carcinoma	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000228	EFO:1000497	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	212461	\N	\N	EFO	1	EFO	adenocarcinoma	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000326	EFO:1000497	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	212462	\N	\N	EFO	1	EFO	central nervous system cancer	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0003769	EFO:1000497	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	212463	\N	\N	EFO	1	EFO	endocrine neoplasm	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0003833	EFO:1000497	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	212464	\N	\N	EFO	1	EFO	brain neoplasm	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	566093	\N	\N	EFO	2	EFO	carcinoma	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	566094	\N	\N	EFO	2	EFO	cancer	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	566095	\N	\N	EFO	2	EFO	nervous system disease	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	566096	\N	\N	EFO	2	EFO	neoplasm	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	566097	\N	\N	EFO	2	EFO	endocrine system disease	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	566098	\N	\N	EFO	2	EFO	neoplasm	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	566099	\N	\N	EFO	2	EFO	brain disease	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	1147437	\N	\N	EFO	3	EFO	cancer	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	1147438	\N	\N	EFO	3	EFO	epithelial neoplasm	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	2029752	\N	\N	EFO	4	EFO	neoplasm	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	2029756	\N	\N	EFO	4	EFO	disease	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	3000017	\N	\N	EFO	5	EFO	disease	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	1147442	\N	\N	EFO	3	EFO	disease	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	1147443	\N	\N	EFO	3	EFO	nervous system disease	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	2029753	\N	\N	EFO	4	EFO	neoplasm	Prolactin-Producing Pituitary Gland Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	4066776	\N	\N	EFO	6	EFO	disposition	Prolactin-Producing Pituitary Gland Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	5059458	\N	\N	EFO	7	EFO	material property	Prolactin-Producing Pituitary Gland Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000497	"A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." []	5876627	\N	\N	EFO	8	EFO	experimental factor	Prolactin-Producing Pituitary Gland Carcinoma
EFO:1000498	\N	\N	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	EFO:1000498	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	70094	\N	\N	EFO	0	EFO	Prostate Rhabdomyosarcoma	Prostate Rhabdomyosarcoma
EFO:0002918	EFO:1000498	\N	"A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.\\n\\nA malignant mesenchymal neoplasm arising from skeletal muscle.\\n\\nCancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body." []	EFO:1000498	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	212465	\N	\N	EFO	1	EFO	rhabdomyosarcoma	Prostate Rhabdomyosarcoma
EFO:0002970	EFO:1000498	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1000498	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	212466	\N	\N	EFO	1	EFO	muscular disease	Prostate Rhabdomyosarcoma
EFO:0000691	EFO:0002918	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000498	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	566100	\N	\N	EFO	2	EFO	sarcoma	Prostate Rhabdomyosarcoma
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1000498	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	566101	\N	\N	EFO	2	EFO	skeletal system disease	Prostate Rhabdomyosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000498	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	1147444	\N	\N	EFO	3	EFO	cancer	Prostate Rhabdomyosarcoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000498	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	1147445	\N	\N	EFO	3	EFO	disease	Prostate Rhabdomyosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000498	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	2029757	\N	\N	EFO	4	EFO	neoplasm	Prostate Rhabdomyosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000498	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	4389279	\N	\N	EFO	6	EFO	disposition	Prostate Rhabdomyosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000498	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	3180555	\N	\N	EFO	5	EFO	disease	Prostate Rhabdomyosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000498	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	5059459	\N	\N	EFO	7	EFO	material property	Prostate Rhabdomyosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000498	"A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." []	5876628	\N	\N	EFO	8	EFO	experimental factor	Prostate Rhabdomyosarcoma
EFO:1000499	\N	\N	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	70095	\N	\N	EFO	0	EFO	Prostate Small Cell Carcinoma	Prostate Small Cell Carcinoma
EFO:0001663	EFO:1000499	\N	"One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002" []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	212467	\N	\N	EFO	1	EFO	prostate carcinoma	Prostate Small Cell Carcinoma
EFO:0003769	EFO:1000499	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	212468	\N	\N	EFO	1	EFO	endocrine neoplasm	Prostate Small Cell Carcinoma
EFO:0000313	EFO:0001663	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	566102	\N	\N	EFO	2	EFO	carcinoma	Prostate Small Cell Carcinoma
EFO:0000512	EFO:0001663	\N	"any diease of the reproductive system" []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	566103	\N	\N	EFO	2	EFO	reproductive system disease	Prostate Small Cell Carcinoma
EFO:0003863	EFO:0001663	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	566104	\N	\N	EFO	2	EFO	urogenital neoplasm	Prostate Small Cell Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	566105	\N	\N	EFO	2	EFO	neoplasm	Prostate Small Cell Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	566106	\N	\N	EFO	2	EFO	endocrine system disease	Prostate Small Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	1147446	\N	\N	EFO	3	EFO	cancer	Prostate Small Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	1147447	\N	\N	EFO	3	EFO	epithelial neoplasm	Prostate Small Cell Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	1147448	\N	\N	EFO	3	EFO	disease	Prostate Small Cell Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	1147449	\N	\N	EFO	3	EFO	neoplasm	Prostate Small Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	3180557	\N	\N	EFO	5	EFO	disease	Prostate Small Cell Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	1147451	\N	\N	EFO	3	EFO	disease	Prostate Small Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	2029759	\N	\N	EFO	4	EFO	neoplasm	Prostate Small Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	2029760	\N	\N	EFO	4	EFO	neoplasm	Prostate Small Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	4066777	\N	\N	EFO	6	EFO	disposition	Prostate Small Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	5059460	\N	\N	EFO	7	EFO	material property	Prostate Small Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000499	"A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." []	5876629	\N	\N	EFO	8	EFO	experimental factor	Prostate Small Cell Carcinoma
EFO:1000500	\N	\N	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	70096	\N	\N	EFO	0	EFO	Psammomatous Meningioma	Psammomatous Meningioma
Orphanet:2495	EFO:1000500	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	212469	\N	\N	EFO	1	EFO	Meningioma	Psammomatous Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	566107	\N	\N	EFO	2	EFO	endocrine neoplasm	Psammomatous Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	566108	\N	\N	EFO	2	EFO	meningeal neoplasm	Psammomatous Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	1147452	\N	\N	EFO	3	EFO	neoplasm	Psammomatous Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	1147453	\N	\N	EFO	3	EFO	endocrine system disease	Psammomatous Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	1147454	\N	\N	EFO	3	EFO	brain neoplasm	Psammomatous Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	3180560	\N	\N	EFO	5	EFO	disease	Psammomatous Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	2029764	\N	\N	EFO	4	EFO	disease	Psammomatous Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	2029765	\N	\N	EFO	4	EFO	neoplasm	Psammomatous Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	2029766	\N	\N	EFO	4	EFO	brain disease	Psammomatous Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	5409226	\N	\N	EFO	7	EFO	disposition	Psammomatous Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	3180561	\N	\N	EFO	5	EFO	nervous system disease	Psammomatous Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	5876630	\N	\N	EFO	8	EFO	material property	Psammomatous Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	4389283	\N	\N	EFO	6	EFO	disease	Psammomatous Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000500	"A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." []	6469863	\N	\N	EFO	9	EFO	experimental factor	Psammomatous Meningioma
EFO:1000501	\N	\N	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	70097	\N	\N	EFO	0	EFO	Pyloric Gland Adenoma	Pyloric Gland Adenoma
EFO:0000232	EFO:1000501	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	212470	\N	\N	EFO	1	EFO	adenoma	Pyloric Gland Adenoma
EFO:0000662	EFO:1000501	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	212471	\N	\N	EFO	1	EFO	polyp	Pyloric Gland Adenoma
EFO:0003897	EFO:1000501	\N	"Tumors or cancer of the STOMACH." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	212472	\N	\N	EFO	1	EFO	stomach neoplasm	Pyloric Gland Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	566109	\N	\N	EFO	2	EFO	benign neoplasm	Pyloric Gland Adenoma
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	566110	\N	\N	EFO	2	EFO	neoplasm	Pyloric Gland Adenoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	566111	\N	\N	EFO	2	EFO	digestive system disease	Pyloric Gland Adenoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	566112	\N	\N	EFO	2	EFO	neoplasm	Pyloric Gland Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	1147455	\N	\N	EFO	3	EFO	neoplasm	Pyloric Gland Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	2029767	\N	\N	EFO	4	EFO	disease	Pyloric Gland Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	1147457	\N	\N	EFO	3	EFO	disease	Pyloric Gland Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	3000020	\N	\N	EFO	5	EFO	disposition	Pyloric Gland Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	4132990	\N	\N	EFO	6	EFO	material property	Pyloric Gland Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000501	"A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." []	5181254	\N	\N	EFO	7	EFO	experimental factor	Pyloric Gland Adenoma
EFO:1000502	\N	\N	"A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." []	EFO:1000502	"A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." []	70098	\N	\N	EFO	0	EFO	Rectal Hyperplastic Polyp	Rectal Hyperplastic Polyp
EFO:0000405	EFO:1000502	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000502	"A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." []	212473	\N	\N	EFO	1	EFO	digestive system disease	Rectal Hyperplastic Polyp
EFO:0000662	EFO:1000502	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000502	"A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." []	212474	\N	\N	EFO	1	EFO	polyp	Rectal Hyperplastic Polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000502	"A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." []	566113	\N	\N	EFO	2	EFO	disease	Rectal Hyperplastic Polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000502	"A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." []	566114	\N	\N	EFO	2	EFO	neoplasm	Rectal Hyperplastic Polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000502	"A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." []	2029770	\N	\N	EFO	4	EFO	disposition	Rectal Hyperplastic Polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000502	"A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." []	1147459	\N	\N	EFO	3	EFO	disease	Rectal Hyperplastic Polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000502	"A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." []	3000021	\N	\N	EFO	5	EFO	material property	Rectal Hyperplastic Polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000502	"A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." []	4132991	\N	\N	EFO	6	EFO	experimental factor	Rectal Hyperplastic Polyp
EFO:1000503	\N	\N	"An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." []	EFO:1000503	"An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." []	70099	\N	\N	EFO	0	EFO	Rectal Traditional Serrated Adenoma	Rectal Traditional Serrated Adenoma
EFO:0000232	EFO:1000503	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000503	"An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." []	212475	\N	\N	EFO	1	EFO	adenoma	Rectal Traditional Serrated Adenoma
EFO:0000405	EFO:1000503	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000503	"An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." []	212476	\N	\N	EFO	1	EFO	digestive system disease	Rectal Traditional Serrated Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000503	"An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." []	566115	\N	\N	EFO	2	EFO	benign neoplasm	Rectal Traditional Serrated Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000503	"An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." []	566116	\N	\N	EFO	2	EFO	disease	Rectal Traditional Serrated Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000503	"An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." []	1147460	\N	\N	EFO	3	EFO	neoplasm	Rectal Traditional Serrated Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000503	"An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." []	3180564	\N	\N	EFO	5	EFO	disposition	Rectal Traditional Serrated Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000503	"An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." []	2029771	\N	\N	EFO	4	EFO	disease	Rectal Traditional Serrated Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000503	"An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." []	4066778	\N	\N	EFO	6	EFO	material property	Rectal Traditional Serrated Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000503	"An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." []	5059461	\N	\N	EFO	7	EFO	experimental factor	Rectal Traditional Serrated Adenoma
EFO:1000504	\N	\N	"A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	EFO:1000504	"A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	70100	\N	\N	EFO	0	EFO	Rectal Tubular Adenoma	Rectal Tubular Adenoma
EFO:0005406	EFO:1000504	\N	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	EFO:1000504	"A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	212477	\N	\N	EFO	1	EFO	colorectal adenoma	Rectal Tubular Adenoma
EFO:0000405	EFO:0005406	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000504	"A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	566117	\N	\N	EFO	2	EFO	digestive system disease	Rectal Tubular Adenoma
EFO:0004142	EFO:0005406	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000504	"A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	566118	\N	\N	EFO	2	EFO	colorectal neoplasm	Rectal Tubular Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000504	"A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	1147462	\N	\N	EFO	3	EFO	disease	Rectal Tubular Adenoma
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000504	"A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	1147463	\N	\N	EFO	3	EFO	neoplasm	Rectal Tubular Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000504	"A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	3180567	\N	\N	EFO	5	EFO	disposition	Rectal Tubular Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000504	"A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	2029774	\N	\N	EFO	4	EFO	disease	Rectal Tubular Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000504	"A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	4132992	\N	\N	EFO	6	EFO	material property	Rectal Tubular Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000504	"A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	5181255	\N	\N	EFO	7	EFO	experimental factor	Rectal Tubular Adenoma
EFO:1000505	\N	\N	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	EFO:1000505	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	70101	\N	\N	EFO	0	EFO	Rectal Tubulovillous Adenoma	Rectal Tubulovillous Adenoma
EFO:0005406	EFO:1000505	\N	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	EFO:1000505	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	212478	\N	\N	EFO	1	EFO	colorectal adenoma	Rectal Tubulovillous Adenoma
EFO:0000405	EFO:0005406	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000505	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	566119	\N	\N	EFO	2	EFO	digestive system disease	Rectal Tubulovillous Adenoma
EFO:0004142	EFO:0005406	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000505	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	566120	\N	\N	EFO	2	EFO	colorectal neoplasm	Rectal Tubulovillous Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000505	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	1147464	\N	\N	EFO	3	EFO	disease	Rectal Tubulovillous Adenoma
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000505	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	1147465	\N	\N	EFO	3	EFO	neoplasm	Rectal Tubulovillous Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000505	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	3180569	\N	\N	EFO	5	EFO	disposition	Rectal Tubulovillous Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000505	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	2029776	\N	\N	EFO	4	EFO	disease	Rectal Tubulovillous Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000505	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	4132993	\N	\N	EFO	6	EFO	material property	Rectal Tubulovillous Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000505	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	5181256	\N	\N	EFO	7	EFO	experimental factor	Rectal Tubulovillous Adenoma
EFO:1000506	\N	\N	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	EFO:1000506	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	70102	\N	\N	EFO	0	EFO	Rectal Villous Adenoma	Rectal Villous Adenoma
EFO:0005406	EFO:1000506	\N	"An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." []	EFO:1000506	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	212479	\N	\N	EFO	1	EFO	colorectal adenoma	Rectal Villous Adenoma
EFO:0000405	EFO:0005406	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000506	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	566121	\N	\N	EFO	2	EFO	digestive system disease	Rectal Villous Adenoma
EFO:0004142	EFO:0005406	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000506	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	566122	\N	\N	EFO	2	EFO	colorectal neoplasm	Rectal Villous Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000506	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	1147466	\N	\N	EFO	3	EFO	disease	Rectal Villous Adenoma
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000506	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	1147467	\N	\N	EFO	3	EFO	neoplasm	Rectal Villous Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000506	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	3180571	\N	\N	EFO	5	EFO	disposition	Rectal Villous Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000506	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	2029778	\N	\N	EFO	4	EFO	disease	Rectal Villous Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000506	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	4132994	\N	\N	EFO	6	EFO	material property	Rectal Villous Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000506	"A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." []	5181257	\N	\N	EFO	7	EFO	experimental factor	Rectal Villous Adenoma
EFO:1000507	\N	\N	"A very rare, benign, encapsulated tumor that arises from the kidney. It is characterized by the presence of clear epithelial cells in a prominent smooth muscle stroma." []	EFO:1000507	"A very rare, benign, encapsulated tumor that arises from the kidney. It is characterized by the presence of clear epithelial cells in a prominent smooth muscle stroma." []	70103	\N	\N	EFO	0	EFO	Renal Angiomyoadenomatous Tumor	Renal Angiomyoadenomatous Tumor
EFO:0003865	EFO:1000507	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000507	"A very rare, benign, encapsulated tumor that arises from the kidney. It is characterized by the presence of clear epithelial cells in a prominent smooth muscle stroma." []	212480	\N	\N	EFO	1	EFO	kidney neoplasm	Renal Angiomyoadenomatous Tumor
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000507	"A very rare, benign, encapsulated tumor that arises from the kidney. It is characterized by the presence of clear epithelial cells in a prominent smooth muscle stroma." []	566123	\N	\N	EFO	2	EFO	kidney disease	Renal Angiomyoadenomatous Tumor
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000507	"A very rare, benign, encapsulated tumor that arises from the kidney. It is characterized by the presence of clear epithelial cells in a prominent smooth muscle stroma." []	566124	\N	\N	EFO	2	EFO	urogenital neoplasm	Renal Angiomyoadenomatous Tumor
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000507	"A very rare, benign, encapsulated tumor that arises from the kidney. It is characterized by the presence of clear epithelial cells in a prominent smooth muscle stroma." []	1147468	\N	\N	EFO	3	EFO	disease	Renal Angiomyoadenomatous Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000507	"A very rare, benign, encapsulated tumor that arises from the kidney. It is characterized by the presence of clear epithelial cells in a prominent smooth muscle stroma." []	1147469	\N	\N	EFO	3	EFO	neoplasm	Renal Angiomyoadenomatous Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000507	"A very rare, benign, encapsulated tumor that arises from the kidney. It is characterized by the presence of clear epithelial cells in a prominent smooth muscle stroma." []	3180573	\N	\N	EFO	5	EFO	disposition	Renal Angiomyoadenomatous Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000507	"A very rare, benign, encapsulated tumor that arises from the kidney. It is characterized by the presence of clear epithelial cells in a prominent smooth muscle stroma." []	2029780	\N	\N	EFO	4	EFO	disease	Renal Angiomyoadenomatous Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000507	"A very rare, benign, encapsulated tumor that arises from the kidney. It is characterized by the presence of clear epithelial cells in a prominent smooth muscle stroma." []	4132995	\N	\N	EFO	6	EFO	material property	Renal Angiomyoadenomatous Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000507	"A very rare, benign, encapsulated tumor that arises from the kidney. It is characterized by the presence of clear epithelial cells in a prominent smooth muscle stroma." []	5181258	\N	\N	EFO	7	EFO	experimental factor	Renal Angiomyoadenomatous Tumor
EFO:1000508	\N	\N	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	70104	\N	\N	EFO	0	EFO	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0000681	EFO:1000508	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	212481	\N	\N	EFO	1	EFO	renal cell carcinoma	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0002890	EFO:0000681	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	566125	\N	\N	EFO	2	EFO	renal carcinoma	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	1147470	\N	\N	EFO	3	EFO	carcinoma	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	1147471	\N	\N	EFO	3	EFO	kidney neoplasm	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	2029781	\N	\N	EFO	4	EFO	cancer	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	2029782	\N	\N	EFO	4	EFO	epithelial neoplasm	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	2029783	\N	\N	EFO	4	EFO	kidney disease	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	2029784	\N	\N	EFO	4	EFO	urogenital neoplasm	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	3180574	\N	\N	EFO	5	EFO	neoplasm	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	3180575	\N	\N	EFO	5	EFO	neoplasm	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	3180576	\N	\N	EFO	5	EFO	disease	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	3180577	\N	\N	EFO	5	EFO	neoplasm	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	4389289	\N	\N	EFO	6	EFO	disease	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	5409227	\N	\N	EFO	7	EFO	disposition	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	5996716	\N	\N	EFO	8	EFO	material property	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000508	"A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. The clinical behavior of this group of carcinomas is largely unknown." []	6550406	\N	\N	EFO	9	EFO	experimental factor	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
EFO:1000509	\N	\N	"A benign or malignant neoplasm affecting the retina. Representative examples of benign neoplasms include retinocytoma and hemangioma. Representative examples of malignant neoplasms include retinoblastoma, lymphoma and melanoma." []	EFO:1000509	"A benign or malignant neoplasm affecting the retina. Representative examples of benign neoplasms include retinocytoma and hemangioma. Representative examples of malignant neoplasms include retinoblastoma, lymphoma and melanoma." []	70105	\N	\N	EFO	0	EFO	Retinal Neoplasm	Retinal Neoplasm
EFO:0003824	EFO:1000509	\N	"Tumors or cancer of the EYE." []	EFO:1000509	"A benign or malignant neoplasm affecting the retina. Representative examples of benign neoplasms include retinocytoma and hemangioma. Representative examples of malignant neoplasms include retinoblastoma, lymphoma and melanoma." []	212482	\N	\N	EFO	1	EFO	eye neoplasm	Retinal Neoplasm
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000509	"A benign or malignant neoplasm affecting the retina. Representative examples of benign neoplasms include retinocytoma and hemangioma. Representative examples of malignant neoplasms include retinoblastoma, lymphoma and melanoma." []	566126	\N	\N	EFO	2	EFO	neoplasm	Retinal Neoplasm
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000509	"A benign or malignant neoplasm affecting the retina. Representative examples of benign neoplasms include retinocytoma and hemangioma. Representative examples of malignant neoplasms include retinoblastoma, lymphoma and melanoma." []	566127	\N	\N	EFO	2	EFO	eye disease	Retinal Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000509	"A benign or malignant neoplasm affecting the retina. Representative examples of benign neoplasms include retinocytoma and hemangioma. Representative examples of malignant neoplasms include retinoblastoma, lymphoma and melanoma." []	1147472	\N	\N	EFO	3	EFO	disease	Retinal Neoplasm
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000509	"A benign or malignant neoplasm affecting the retina. Representative examples of benign neoplasms include retinocytoma and hemangioma. Representative examples of malignant neoplasms include retinoblastoma, lymphoma and melanoma." []	1147473	\N	\N	EFO	3	EFO	disease	Retinal Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000509	"A benign or malignant neoplasm affecting the retina. Representative examples of benign neoplasms include retinocytoma and hemangioma. Representative examples of malignant neoplasms include retinoblastoma, lymphoma and melanoma." []	2029785	\N	\N	EFO	4	EFO	disposition	Retinal Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000509	"A benign or malignant neoplasm affecting the retina. Representative examples of benign neoplasms include retinocytoma and hemangioma. Representative examples of malignant neoplasms include retinoblastoma, lymphoma and melanoma." []	3180578	\N	\N	EFO	5	EFO	material property	Retinal Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000509	"A benign or malignant neoplasm affecting the retina. Representative examples of benign neoplasms include retinocytoma and hemangioma. Representative examples of malignant neoplasms include retinoblastoma, lymphoma and melanoma." []	4389291	\N	\N	EFO	6	EFO	experimental factor	Retinal Neoplasm
EFO:1000510	\N	\N	"A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	EFO:1000510	"A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	70106	\N	\N	EFO	0	EFO	Retroperitoneal Inflammatory Myofibroblastic Tumor	Retroperitoneal Inflammatory Myofibroblastic Tumor
EFO:0000616	EFO:1000510	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000510	"A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	212483	\N	\N	EFO	1	EFO	neoplasm	Retroperitoneal Inflammatory Myofibroblastic Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000510	"A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	566128	\N	\N	EFO	2	EFO	disease	Retroperitoneal Inflammatory Myofibroblastic Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000510	"A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	1147474	\N	\N	EFO	3	EFO	disposition	Retroperitoneal Inflammatory Myofibroblastic Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000510	"A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	2029786	\N	\N	EFO	4	EFO	material property	Retroperitoneal Inflammatory Myofibroblastic Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000510	"A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." []	3180579	\N	\N	EFO	5	EFO	experimental factor	Retroperitoneal Inflammatory Myofibroblastic Tumor
EFO:1000511	\N	\N	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	70107	\N	\N	EFO	0	EFO	Rhabdoid Meningioma	Rhabdoid Meningioma
Orphanet:2495	EFO:1000511	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	212484	\N	\N	EFO	1	EFO	Meningioma	Rhabdoid Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	566129	\N	\N	EFO	2	EFO	endocrine neoplasm	Rhabdoid Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	566130	\N	\N	EFO	2	EFO	meningeal neoplasm	Rhabdoid Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	1147475	\N	\N	EFO	3	EFO	neoplasm	Rhabdoid Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	1147476	\N	\N	EFO	3	EFO	endocrine system disease	Rhabdoid Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	1147477	\N	\N	EFO	3	EFO	brain neoplasm	Rhabdoid Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	3180581	\N	\N	EFO	5	EFO	disease	Rhabdoid Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	2029788	\N	\N	EFO	4	EFO	disease	Rhabdoid Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	2029789	\N	\N	EFO	4	EFO	neoplasm	Rhabdoid Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	2029790	\N	\N	EFO	4	EFO	brain disease	Rhabdoid Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	5409230	\N	\N	EFO	7	EFO	disposition	Rhabdoid Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	3180582	\N	\N	EFO	5	EFO	nervous system disease	Rhabdoid Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	5876631	\N	\N	EFO	8	EFO	material property	Rhabdoid Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	4389293	\N	\N	EFO	6	EFO	disease	Rhabdoid Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000511	"A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." []	6469864	\N	\N	EFO	9	EFO	experimental factor	Rhabdoid Meningioma
EFO:1000512	\N	\N	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	EFO:1000512	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	70108	\N	\N	EFO	0	EFO	Rhabdoid Tumor of the Kidney	Rhabdoid Tumor of the Kidney
EFO:0003865	EFO:1000512	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000512	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	212485	\N	\N	EFO	1	EFO	kidney neoplasm	Rhabdoid Tumor of the Kidney
EFO:0005784	EFO:1000512	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000512	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	212486	\N	\N	EFO	1	EFO	embryonal neoplasm	Rhabdoid Tumor of the Kidney
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000512	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	566131	\N	\N	EFO	2	EFO	kidney disease	Rhabdoid Tumor of the Kidney
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000512	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	566132	\N	\N	EFO	2	EFO	urogenital neoplasm	Rhabdoid Tumor of the Kidney
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000512	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	566133	\N	\N	EFO	2	EFO	neoplasm	Rhabdoid Tumor of the Kidney
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000512	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	1147478	\N	\N	EFO	3	EFO	disease	Rhabdoid Tumor of the Kidney
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000512	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	1147479	\N	\N	EFO	3	EFO	neoplasm	Rhabdoid Tumor of the Kidney
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000512	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	2029792	\N	\N	EFO	4	EFO	disease	Rhabdoid Tumor of the Kidney
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000512	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	3000022	\N	\N	EFO	5	EFO	disposition	Rhabdoid Tumor of the Kidney
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000512	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	4132997	\N	\N	EFO	6	EFO	material property	Rhabdoid Tumor of the Kidney
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000512	"A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." []	5181260	\N	\N	EFO	7	EFO	experimental factor	Rhabdoid Tumor of the Kidney
EFO:1000513	\N	\N	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	70109	\N	\N	EFO	0	EFO	Salivary Gland Acinic Cell Carcinoma	Salivary Gland Acinic Cell Carcinoma
EFO:0000228	EFO:1000513	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	212487	\N	\N	EFO	1	EFO	adenocarcinoma	Salivary Gland Acinic Cell Carcinoma
EFO:0003826	EFO:1000513	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	212488	\N	\N	EFO	1	EFO	salivary gland neoplasm	Salivary Gland Acinic Cell Carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	566134	\N	\N	EFO	2	EFO	carcinoma	Salivary Gland Acinic Cell Carcinoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	566135	\N	\N	EFO	2	EFO	digestive system disease	Salivary Gland Acinic Cell Carcinoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	566136	\N	\N	EFO	2	EFO	head and neck neoplasia	Salivary Gland Acinic Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	1147481	\N	\N	EFO	3	EFO	cancer	Salivary Gland Acinic Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	1147482	\N	\N	EFO	3	EFO	epithelial neoplasm	Salivary Gland Acinic Cell Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	1147483	\N	\N	EFO	3	EFO	disease	Salivary Gland Acinic Cell Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	1147484	\N	\N	EFO	3	EFO	head disease	Salivary Gland Acinic Cell Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	1147485	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Acinic Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	2029793	\N	\N	EFO	4	EFO	neoplasm	Salivary Gland Acinic Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	2029794	\N	\N	EFO	4	EFO	neoplasm	Salivary Gland Acinic Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	4132999	\N	\N	EFO	6	EFO	disposition	Salivary Gland Acinic Cell Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	2029796	\N	\N	EFO	4	EFO	disease	Salivary Gland Acinic Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	3180584	\N	\N	EFO	5	EFO	disease	Salivary Gland Acinic Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	5059462	\N	\N	EFO	7	EFO	material property	Salivary Gland Acinic Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000513	"A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." []	5876632	\N	\N	EFO	8	EFO	experimental factor	Salivary Gland Acinic Cell Carcinoma
EFO:1000514	\N	\N	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	70110	\N	\N	EFO	0	EFO	Salivary Gland Adenosquamous Carcinoma	Salivary Gland Adenosquamous Carcinoma
EFO:0000313	EFO:1000514	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	212489	\N	\N	EFO	1	EFO	carcinoma	Salivary Gland Adenosquamous Carcinoma
EFO:0003826	EFO:1000514	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	212490	\N	\N	EFO	1	EFO	salivary gland neoplasm	Salivary Gland Adenosquamous Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	566137	\N	\N	EFO	2	EFO	cancer	Salivary Gland Adenosquamous Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	566138	\N	\N	EFO	2	EFO	epithelial neoplasm	Salivary Gland Adenosquamous Carcinoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	566139	\N	\N	EFO	2	EFO	digestive system disease	Salivary Gland Adenosquamous Carcinoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	566140	\N	\N	EFO	2	EFO	head and neck neoplasia	Salivary Gland Adenosquamous Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	1147486	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Adenosquamous Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	1147487	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Adenosquamous Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	1147488	\N	\N	EFO	3	EFO	disease	Salivary Gland Adenosquamous Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	1147489	\N	\N	EFO	3	EFO	head disease	Salivary Gland Adenosquamous Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	1147490	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Adenosquamous Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	2029798	\N	\N	EFO	4	EFO	disease	Salivary Gland Adenosquamous Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	3180587	\N	\N	EFO	5	EFO	disposition	Salivary Gland Adenosquamous Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	2029800	\N	\N	EFO	4	EFO	disease	Salivary Gland Adenosquamous Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	4133000	\N	\N	EFO	6	EFO	material property	Salivary Gland Adenosquamous Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000514	"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." []	5181262	\N	\N	EFO	7	EFO	experimental factor	Salivary Gland Adenosquamous Carcinoma
EFO:1000515	\N	\N	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	70111	\N	\N	EFO	0	EFO	Salivary Gland Basal Cell Adenocarcinoma	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000228	EFO:1000515	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	212491	\N	\N	EFO	1	EFO	adenocarcinoma	Salivary Gland Basal Cell Adenocarcinoma
EFO:0003826	EFO:1000515	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	212492	\N	\N	EFO	1	EFO	salivary gland neoplasm	Salivary Gland Basal Cell Adenocarcinoma
EFO:0004193	EFO:1000515	\N	"A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	212493	\N	\N	EFO	1	EFO	basal cell carcinoma	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	566141	\N	\N	EFO	2	EFO	carcinoma	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	566142	\N	\N	EFO	2	EFO	digestive system disease	Salivary Gland Basal Cell Adenocarcinoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	566143	\N	\N	EFO	2	EFO	head and neck neoplasia	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000313	EFO:0004193	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	566144	\N	\N	EFO	2	EFO	carcinoma	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	1147491	\N	\N	EFO	3	EFO	cancer	Salivary Gland Basal Cell Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	1147492	\N	\N	EFO	3	EFO	epithelial neoplasm	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	1147493	\N	\N	EFO	3	EFO	disease	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	1147494	\N	\N	EFO	3	EFO	head disease	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	1147495	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	2029801	\N	\N	EFO	4	EFO	neoplasm	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	2029802	\N	\N	EFO	4	EFO	neoplasm	Salivary Gland Basal Cell Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	4133002	\N	\N	EFO	6	EFO	disposition	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	2029804	\N	\N	EFO	4	EFO	disease	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	3180589	\N	\N	EFO	5	EFO	disease	Salivary Gland Basal Cell Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	5059463	\N	\N	EFO	7	EFO	material property	Salivary Gland Basal Cell Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000515	"A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." []	5876633	\N	\N	EFO	8	EFO	experimental factor	Salivary Gland Basal Cell Adenocarcinoma
EFO:1000516	\N	\N	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	70112	\N	\N	EFO	0	EFO	Salivary Gland Carcinoma ex Pleomorphic Adenoma	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000313	EFO:1000516	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	212494	\N	\N	EFO	1	EFO	carcinoma	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0003826	EFO:1000516	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	212495	\N	\N	EFO	1	EFO	salivary gland neoplasm	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	566145	\N	\N	EFO	2	EFO	cancer	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	566146	\N	\N	EFO	2	EFO	epithelial neoplasm	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	566147	\N	\N	EFO	2	EFO	digestive system disease	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	566148	\N	\N	EFO	2	EFO	head and neck neoplasia	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147496	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147497	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147498	\N	\N	EFO	3	EFO	disease	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147499	\N	\N	EFO	3	EFO	head disease	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	1147500	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	2029806	\N	\N	EFO	4	EFO	disease	Salivary Gland Carcinoma ex Pleomorphic Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	3180592	\N	\N	EFO	5	EFO	disposition	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	2029808	\N	\N	EFO	4	EFO	disease	Salivary Gland Carcinoma ex Pleomorphic Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	4133003	\N	\N	EFO	6	EFO	material property	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000516	"A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." []	5181264	\N	\N	EFO	7	EFO	experimental factor	Salivary Gland Carcinoma ex Pleomorphic Adenoma
EFO:1000517	\N	\N	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	70113	\N	\N	EFO	0	EFO	Salivary Gland Large Cell Carcinoma	Salivary Gland Large Cell Carcinoma
EFO:0003826	EFO:1000517	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	212496	\N	\N	EFO	1	EFO	salivary gland neoplasm	Salivary Gland Large Cell Carcinoma
EFO:0006772	EFO:1000517	\N	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	212497	\N	\N	EFO	1	EFO	undifferentiated carcinoma	Salivary Gland Large Cell Carcinoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	566149	\N	\N	EFO	2	EFO	digestive system disease	Salivary Gland Large Cell Carcinoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	566150	\N	\N	EFO	2	EFO	head and neck neoplasia	Salivary Gland Large Cell Carcinoma
EFO:0000313	EFO:0006772	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	566151	\N	\N	EFO	2	EFO	carcinoma	Salivary Gland Large Cell Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	1147501	\N	\N	EFO	3	EFO	disease	Salivary Gland Large Cell Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	1147502	\N	\N	EFO	3	EFO	head disease	Salivary Gland Large Cell Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	1147503	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Large Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	1147504	\N	\N	EFO	3	EFO	cancer	Salivary Gland Large Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	1147505	\N	\N	EFO	3	EFO	epithelial neoplasm	Salivary Gland Large Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	4133005	\N	\N	EFO	6	EFO	disposition	Salivary Gland Large Cell Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	2029810	\N	\N	EFO	4	EFO	disease	Salivary Gland Large Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	3180596	\N	\N	EFO	5	EFO	disease	Salivary Gland Large Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	2029812	\N	\N	EFO	4	EFO	neoplasm	Salivary Gland Large Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	2029813	\N	\N	EFO	4	EFO	neoplasm	Salivary Gland Large Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	5059464	\N	\N	EFO	7	EFO	material property	Salivary Gland Large Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000517	"A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." []	5876634	\N	\N	EFO	8	EFO	experimental factor	Salivary Gland Large Cell Carcinoma
EFO:1000518	\N	\N	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	EFO:1000518	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	70114	\N	\N	EFO	0	EFO	Salivary Gland Pleomorphic Adenoma	Salivary Gland Pleomorphic Adenoma
EFO:0003826	EFO:1000518	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000518	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	212498	\N	\N	EFO	1	EFO	salivary gland neoplasm	Salivary Gland Pleomorphic Adenoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000518	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	566152	\N	\N	EFO	2	EFO	digestive system disease	Salivary Gland Pleomorphic Adenoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000518	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	566153	\N	\N	EFO	2	EFO	head and neck neoplasia	Salivary Gland Pleomorphic Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000518	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	1147506	\N	\N	EFO	3	EFO	disease	Salivary Gland Pleomorphic Adenoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000518	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	1147507	\N	\N	EFO	3	EFO	head disease	Salivary Gland Pleomorphic Adenoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000518	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	1147508	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Pleomorphic Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000518	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	3180598	\N	\N	EFO	5	EFO	disposition	Salivary Gland Pleomorphic Adenoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000518	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	2029815	\N	\N	EFO	4	EFO	disease	Salivary Gland Pleomorphic Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000518	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	2029816	\N	\N	EFO	4	EFO	disease	Salivary Gland Pleomorphic Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000518	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	4133006	\N	\N	EFO	6	EFO	material property	Salivary Gland Pleomorphic Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000518	"A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." []	5181266	\N	\N	EFO	7	EFO	experimental factor	Salivary Gland Pleomorphic Adenoma
EFO:1000519	\N	\N	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	70115	\N	\N	EFO	0	EFO	Salivary Gland Small Cell Carcinoma	Salivary Gland Small Cell Carcinoma
EFO:0000313	EFO:1000519	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	212499	\N	\N	EFO	1	EFO	carcinoma	Salivary Gland Small Cell Carcinoma
EFO:0003826	EFO:1000519	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	212500	\N	\N	EFO	1	EFO	salivary gland neoplasm	Salivary Gland Small Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	566154	\N	\N	EFO	2	EFO	cancer	Salivary Gland Small Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	566155	\N	\N	EFO	2	EFO	epithelial neoplasm	Salivary Gland Small Cell Carcinoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	566156	\N	\N	EFO	2	EFO	digestive system disease	Salivary Gland Small Cell Carcinoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	566157	\N	\N	EFO	2	EFO	head and neck neoplasia	Salivary Gland Small Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	1147509	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Small Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	1147510	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Small Cell Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	1147511	\N	\N	EFO	3	EFO	disease	Salivary Gland Small Cell Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	1147512	\N	\N	EFO	3	EFO	head disease	Salivary Gland Small Cell Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	1147513	\N	\N	EFO	3	EFO	neoplasm	Salivary Gland Small Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	2029817	\N	\N	EFO	4	EFO	disease	Salivary Gland Small Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	3180599	\N	\N	EFO	5	EFO	disposition	Salivary Gland Small Cell Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	2029819	\N	\N	EFO	4	EFO	disease	Salivary Gland Small Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	4133007	\N	\N	EFO	6	EFO	material property	Salivary Gland Small Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000519	"An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." []	5181267	\N	\N	EFO	7	EFO	experimental factor	Salivary Gland Small Cell Carcinoma
EFO:1000520	\N	\N	"A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." []	EFO:1000520	"A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." []	70116	\N	\N	EFO	0	EFO	Sarcomatoid Carcinoma	Sarcomatoid Carcinoma
EFO:0000313	EFO:1000520	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000520	"A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." []	212501	\N	\N	EFO	1	EFO	carcinoma	Sarcomatoid Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000520	"A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." []	566158	\N	\N	EFO	2	EFO	cancer	Sarcomatoid Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000520	"A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." []	566159	\N	\N	EFO	2	EFO	epithelial neoplasm	Sarcomatoid Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000520	"A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." []	1147514	\N	\N	EFO	3	EFO	neoplasm	Sarcomatoid Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000520	"A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." []	1147515	\N	\N	EFO	3	EFO	neoplasm	Sarcomatoid Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000520	"A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." []	2029820	\N	\N	EFO	4	EFO	disease	Sarcomatoid Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000520	"A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." []	3180601	\N	\N	EFO	5	EFO	disposition	Sarcomatoid Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000520	"A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." []	4389302	\N	\N	EFO	6	EFO	material property	Sarcomatoid Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000520	"A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." []	5409231	\N	\N	EFO	7	EFO	experimental factor	Sarcomatoid Carcinoma
EFO:1000521	\N	\N	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	EFO:1000521	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	70117	\N	\N	EFO	0	EFO	Sarcomatoid Mesothelioma	Sarcomatoid Mesothelioma
EFO:0000588	EFO:1000521	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:1000521	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	212502	\N	\N	EFO	1	EFO	mesothelioma	Sarcomatoid Mesothelioma
EFO:0003853	EFO:1000521	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000521	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	212503	\N	\N	EFO	1	EFO	respiratory system neoplasm	Sarcomatoid Mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000521	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	566160	\N	\N	EFO	2	EFO	cancer	Sarcomatoid Mesothelioma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000521	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	566161	\N	\N	EFO	2	EFO	neoplasm	Sarcomatoid Mesothelioma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000521	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	566162	\N	\N	EFO	2	EFO	respiratory system disease	Sarcomatoid Mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000521	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	1147516	\N	\N	EFO	3	EFO	neoplasm	Sarcomatoid Mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000521	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	2029821	\N	\N	EFO	4	EFO	disease	Sarcomatoid Mesothelioma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000521	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	1147518	\N	\N	EFO	3	EFO	disease	Sarcomatoid Mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000521	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	3000023	\N	\N	EFO	5	EFO	disposition	Sarcomatoid Mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000521	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	4133008	\N	\N	EFO	6	EFO	material property	Sarcomatoid Mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000521	"A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." []	5181268	\N	\N	EFO	7	EFO	experimental factor	Sarcomatoid Mesothelioma
EFO:1000522	\N	\N	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	70118	\N	\N	EFO	0	EFO	Secretory Meningioma	Secretory Meningioma
Orphanet:2495	EFO:1000522	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	212504	\N	\N	EFO	1	EFO	Meningioma	Secretory Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	566163	\N	\N	EFO	2	EFO	endocrine neoplasm	Secretory Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	566164	\N	\N	EFO	2	EFO	meningeal neoplasm	Secretory Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	1147519	\N	\N	EFO	3	EFO	neoplasm	Secretory Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	1147520	\N	\N	EFO	3	EFO	endocrine system disease	Secretory Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	1147521	\N	\N	EFO	3	EFO	brain neoplasm	Secretory Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	3180604	\N	\N	EFO	5	EFO	disease	Secretory Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	2029824	\N	\N	EFO	4	EFO	disease	Secretory Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	2029825	\N	\N	EFO	4	EFO	neoplasm	Secretory Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	2029826	\N	\N	EFO	4	EFO	brain disease	Secretory Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	5409233	\N	\N	EFO	7	EFO	disposition	Secretory Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	3180605	\N	\N	EFO	5	EFO	nervous system disease	Secretory Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	5876635	\N	\N	EFO	8	EFO	material property	Secretory Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	4389305	\N	\N	EFO	6	EFO	disease	Secretory Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000522	"A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." []	6469865	\N	\N	EFO	9	EFO	experimental factor	Secretory Meningioma
EFO:1000523	\N	\N	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	EFO:1000523	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	70119	\N	\N	EFO	0	EFO	Sex Hormone-Producing Adrenal Cortex Adenoma	Sex Hormone-Producing Adrenal Cortex Adenoma
EFO:0000232	EFO:1000523	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000523	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	212505	\N	\N	EFO	1	EFO	adenoma	Sex Hormone-Producing Adrenal Cortex Adenoma
EFO:0003769	EFO:1000523	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000523	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	212506	\N	\N	EFO	1	EFO	endocrine neoplasm	Sex Hormone-Producing Adrenal Cortex Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000523	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	566165	\N	\N	EFO	2	EFO	benign neoplasm	Sex Hormone-Producing Adrenal Cortex Adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000523	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	566166	\N	\N	EFO	2	EFO	neoplasm	Sex Hormone-Producing Adrenal Cortex Adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000523	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	566167	\N	\N	EFO	2	EFO	endocrine system disease	Sex Hormone-Producing Adrenal Cortex Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000523	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	1147522	\N	\N	EFO	3	EFO	neoplasm	Sex Hormone-Producing Adrenal Cortex Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000523	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	2029827	\N	\N	EFO	4	EFO	disease	Sex Hormone-Producing Adrenal Cortex Adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000523	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	1147524	\N	\N	EFO	3	EFO	disease	Sex Hormone-Producing Adrenal Cortex Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000523	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	3000024	\N	\N	EFO	5	EFO	disposition	Sex Hormone-Producing Adrenal Cortex Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000523	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	4133010	\N	\N	EFO	6	EFO	material property	Sex Hormone-Producing Adrenal Cortex Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000523	"A rare adenoma of the adrenal cortex that produces androgens or estrogens." []	5181270	\N	\N	EFO	7	EFO	experimental factor	Sex Hormone-Producing Adrenal Cortex Adenoma
EFO:1000524	\N	\N	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	70120	\N	\N	EFO	0	EFO	Signet Ring Cell Gastric Adenocarcinoma	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000503	EFO:1000524	\N	"curative" []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	212507	\N	\N	EFO	1	EFO	gastric adenocarcinoma	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000698	EFO:1000524	\N	"A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	212508	\N	\N	EFO	1	EFO	signet ring cell carcinoma	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000228	EFO:0000503	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	566168	\N	\N	EFO	2	EFO	adenocarcinoma	Signet Ring Cell Gastric Adenocarcinoma
EFO:0003897	EFO:0000503	\N	"Tumors or cancer of the STOMACH." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	566169	\N	\N	EFO	2	EFO	stomach neoplasm	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000313	EFO:0000698	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	566170	\N	\N	EFO	2	EFO	carcinoma	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	1147525	\N	\N	EFO	3	EFO	carcinoma	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	1147526	\N	\N	EFO	3	EFO	digestive system disease	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	1147527	\N	\N	EFO	3	EFO	neoplasm	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	2029829	\N	\N	EFO	4	EFO	cancer	Signet Ring Cell Gastric Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	2029830	\N	\N	EFO	4	EFO	epithelial neoplasm	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	2029831	\N	\N	EFO	4	EFO	disease	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	4133012	\N	\N	EFO	6	EFO	disease	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	3000025	\N	\N	EFO	5	EFO	neoplasm	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	3000026	\N	\N	EFO	5	EFO	neoplasm	Signet Ring Cell Gastric Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	5059465	\N	\N	EFO	7	EFO	disposition	Signet Ring Cell Gastric Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	5876636	\N	\N	EFO	8	EFO	material property	Signet Ring Cell Gastric Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000524	"A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." []	6469866	\N	\N	EFO	9	EFO	experimental factor	Signet Ring Cell Gastric Adenocarcinoma
EFO:1000525	\N	\N	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." []	EFO:1000525	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." []	70121	\N	\N	EFO	0	EFO	Simple Endometrial Hyperplasia	Simple Endometrial Hyperplasia
EFO:0000512	EFO:1000525	\N	"any diease of the reproductive system" []	EFO:1000525	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." []	212509	\N	\N	EFO	1	EFO	reproductive system disease	Simple Endometrial Hyperplasia
EFO:0000536	EFO:1000525	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1000525	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." []	212510	\N	\N	EFO	1	EFO	hyperplasia	Simple Endometrial Hyperplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000525	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." []	566171	\N	\N	EFO	2	EFO	disease	Simple Endometrial Hyperplasia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000525	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." []	566172	\N	\N	EFO	2	EFO	disease	Simple Endometrial Hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000525	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." []	1147530	\N	\N	EFO	3	EFO	disposition	Simple Endometrial Hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000525	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." []	2029835	\N	\N	EFO	4	EFO	material property	Simple Endometrial Hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000525	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." []	3180609	\N	\N	EFO	5	EFO	experimental factor	Simple Endometrial Hyperplasia
EFO:1000526	\N	\N	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." []	EFO:1000526	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." []	70122	\N	\N	EFO	0	EFO	Simple Endometrial Hyperplasia with Atypia	Simple Endometrial Hyperplasia with Atypia
EFO:0004230	EFO:1000526	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000526	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." []	212511	\N	\N	EFO	1	EFO	endometrial neoplasm	Simple Endometrial Hyperplasia with Atypia
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000526	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." []	566173	\N	\N	EFO	2	EFO	uterine neoplasm	Simple Endometrial Hyperplasia with Atypia
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000526	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." []	1147531	\N	\N	EFO	3	EFO	reproductive system disease	Simple Endometrial Hyperplasia with Atypia
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000526	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." []	1147532	\N	\N	EFO	3	EFO	urogenital neoplasm	Simple Endometrial Hyperplasia with Atypia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000526	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." []	2029836	\N	\N	EFO	4	EFO	disease	Simple Endometrial Hyperplasia with Atypia
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000526	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." []	2029837	\N	\N	EFO	4	EFO	neoplasm	Simple Endometrial Hyperplasia with Atypia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000526	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." []	4389309	\N	\N	EFO	6	EFO	disposition	Simple Endometrial Hyperplasia with Atypia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000526	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." []	3180611	\N	\N	EFO	5	EFO	disease	Simple Endometrial Hyperplasia with Atypia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000526	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." []	5181272	\N	\N	EFO	7	EFO	material property	Simple Endometrial Hyperplasia with Atypia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000526	"A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present." []	5996720	\N	\N	EFO	8	EFO	experimental factor	Simple Endometrial Hyperplasia with Atypia
EFO:1000527	\N	\N	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	70123	\N	\N	EFO	0	EFO	Sinonasal Undifferentiated Carcinoma	Sinonasal Undifferentiated Carcinoma
EFO:0003853	EFO:1000527	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	212512	\N	\N	EFO	1	EFO	respiratory system neoplasm	Sinonasal Undifferentiated Carcinoma
EFO:0005950	EFO:1000527	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	212513	\N	\N	EFO	1	EFO	head and neck neoplasia	Sinonasal Undifferentiated Carcinoma
EFO:0006772	EFO:1000527	\N	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	212514	\N	\N	EFO	1	EFO	undifferentiated carcinoma	Sinonasal Undifferentiated Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	566174	\N	\N	EFO	2	EFO	neoplasm	Sinonasal Undifferentiated Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	566175	\N	\N	EFO	2	EFO	respiratory system disease	Sinonasal Undifferentiated Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	566176	\N	\N	EFO	2	EFO	head disease	Sinonasal Undifferentiated Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	566177	\N	\N	EFO	2	EFO	neoplasm	Sinonasal Undifferentiated Carcinoma
EFO:0000313	EFO:0006772	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	566178	\N	\N	EFO	2	EFO	carcinoma	Sinonasal Undifferentiated Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	3180613	\N	\N	EFO	5	EFO	disease	Sinonasal Undifferentiated Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	1147534	\N	\N	EFO	3	EFO	disease	Sinonasal Undifferentiated Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	1147535	\N	\N	EFO	3	EFO	disease	Sinonasal Undifferentiated Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	1147536	\N	\N	EFO	3	EFO	cancer	Sinonasal Undifferentiated Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	1147537	\N	\N	EFO	3	EFO	epithelial neoplasm	Sinonasal Undifferentiated Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	4066779	\N	\N	EFO	6	EFO	disposition	Sinonasal Undifferentiated Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	2029839	\N	\N	EFO	4	EFO	neoplasm	Sinonasal Undifferentiated Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	2029840	\N	\N	EFO	4	EFO	neoplasm	Sinonasal Undifferentiated Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	5059466	\N	\N	EFO	7	EFO	material property	Sinonasal Undifferentiated Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000527	"A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." []	5876637	\N	\N	EFO	8	EFO	experimental factor	Sinonasal Undifferentiated Carcinoma
EFO:1000529	\N	\N	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	70124	\N	\N	EFO	0	EFO	Skin Basosquamous Cell Carcinoma	Skin Basosquamous Cell Carcinoma
EFO:0000313	EFO:1000529	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	212515	\N	\N	EFO	1	EFO	carcinoma	Skin Basosquamous Cell Carcinoma
EFO:0004198	EFO:1000529	\N	"Tumors or cancer of the SKIN." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	212516	\N	\N	EFO	1	EFO	skin neoplasm	Skin Basosquamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	566179	\N	\N	EFO	2	EFO	cancer	Skin Basosquamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	566180	\N	\N	EFO	2	EFO	epithelial neoplasm	Skin Basosquamous Cell Carcinoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	566181	\N	\N	EFO	2	EFO	neoplasm	Skin Basosquamous Cell Carcinoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	566182	\N	\N	EFO	2	EFO	skin disease	Skin Basosquamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	1147538	\N	\N	EFO	3	EFO	neoplasm	Skin Basosquamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	1147539	\N	\N	EFO	3	EFO	neoplasm	Skin Basosquamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	2029841	\N	\N	EFO	4	EFO	disease	Skin Basosquamous Cell Carcinoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	1147541	\N	\N	EFO	3	EFO	disease	Skin Basosquamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	3000027	\N	\N	EFO	5	EFO	disposition	Skin Basosquamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	4133013	\N	\N	EFO	6	EFO	material property	Skin Basosquamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000529	"A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." []	5181273	\N	\N	EFO	7	EFO	experimental factor	Skin Basosquamous Cell Carcinoma
EFO:1000530	\N	\N	"A cavernous hemangioma arising from the skin." []	EFO:1000530	"A cavernous hemangioma arising from the skin." []	70125	\N	\N	EFO	0	EFO	Skin Cavernous Hemangioma	Skin Cavernous Hemangioma
EFO:0004198	EFO:1000530	\N	"Tumors or cancer of the SKIN." []	EFO:1000530	"A cavernous hemangioma arising from the skin." []	212517	\N	\N	EFO	1	EFO	skin neoplasm	Skin Cavernous Hemangioma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000530	"A cavernous hemangioma arising from the skin." []	566183	\N	\N	EFO	2	EFO	neoplasm	Skin Cavernous Hemangioma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000530	"A cavernous hemangioma arising from the skin." []	566184	\N	\N	EFO	2	EFO	skin disease	Skin Cavernous Hemangioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000530	"A cavernous hemangioma arising from the skin." []	1147542	\N	\N	EFO	3	EFO	disease	Skin Cavernous Hemangioma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000530	"A cavernous hemangioma arising from the skin." []	1147543	\N	\N	EFO	3	EFO	disease	Skin Cavernous Hemangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000530	"A cavernous hemangioma arising from the skin." []	2029843	\N	\N	EFO	4	EFO	disposition	Skin Cavernous Hemangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000530	"A cavernous hemangioma arising from the skin." []	3180615	\N	\N	EFO	5	EFO	material property	Skin Cavernous Hemangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000530	"A cavernous hemangioma arising from the skin." []	4389312	\N	\N	EFO	6	EFO	experimental factor	Skin Cavernous Hemangioma
EFO:1000531	\N	\N	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	EFO:1000531	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	70126	\N	\N	EFO	0	EFO	Skin Sarcoma	Skin Sarcoma
EFO:0000691	EFO:1000531	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000531	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	212518	\N	\N	EFO	1	EFO	sarcoma	Skin Sarcoma
EFO:0004198	EFO:1000531	\N	"Tumors or cancer of the SKIN." []	EFO:1000531	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	212519	\N	\N	EFO	1	EFO	skin neoplasm	Skin Sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000531	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	566185	\N	\N	EFO	2	EFO	cancer	Skin Sarcoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000531	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	566186	\N	\N	EFO	2	EFO	neoplasm	Skin Sarcoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000531	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	566187	\N	\N	EFO	2	EFO	skin disease	Skin Sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000531	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	1147544	\N	\N	EFO	3	EFO	neoplasm	Skin Sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000531	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	2029844	\N	\N	EFO	4	EFO	disease	Skin Sarcoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000531	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	1147546	\N	\N	EFO	3	EFO	disease	Skin Sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000531	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	3000028	\N	\N	EFO	5	EFO	disposition	Skin Sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000531	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	4133014	\N	\N	EFO	6	EFO	material property	Skin Sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000531	"A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." []	5181274	\N	\N	EFO	7	EFO	experimental factor	Skin Sarcoma
EFO:1000532	\N	\N	"" []	EFO:1000532	"" []	70127	\N	\N	EFO	0	EFO	small intestinal adenocarcinoma	small intestinal adenocarcinoma
EFO:0000228	EFO:1000532	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000532	"" []	212520	\N	\N	EFO	1	EFO	adenocarcinoma	small intestinal adenocarcinoma
EFO:0000405	EFO:1000532	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000532	"" []	212521	\N	\N	EFO	1	EFO	digestive system disease	small intestinal adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000532	"" []	566188	\N	\N	EFO	2	EFO	carcinoma	small intestinal adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000532	"" []	566189	\N	\N	EFO	2	EFO	disease	small intestinal adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000532	"" []	1147547	\N	\N	EFO	3	EFO	cancer	small intestinal adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000532	"" []	1147548	\N	\N	EFO	3	EFO	epithelial neoplasm	small intestinal adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000532	"" []	4389314	\N	\N	EFO	6	EFO	disposition	small intestinal adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000532	"" []	2029846	\N	\N	EFO	4	EFO	neoplasm	small intestinal adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000532	"" []	2029847	\N	\N	EFO	4	EFO	neoplasm	small intestinal adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000532	"" []	5028356	\N	\N	EFO	7	EFO	material property	small intestinal adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000532	"" []	3180617	\N	\N	EFO	5	EFO	disease	small intestinal adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000532	"" []	5817398	\N	\N	EFO	8	EFO	experimental factor	small intestinal adenocarcinoma
EFO:1000533	\N	\N	"A Burkitt lymphoma that arises from the small intestine." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	70128	\N	\N	EFO	0	EFO	Small Intestinal Burkitt Lymphoma	Small Intestinal Burkitt Lymphoma
EFO:0000309	EFO:1000533	\N	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	212522	\N	\N	EFO	1	EFO	Burkitts lymphoma	Small Intestinal Burkitt Lymphoma
EFO:0000405	EFO:1000533	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	212523	\N	\N	EFO	1	EFO	digestive system disease	Small Intestinal Burkitt Lymphoma
EFO:0000096	EFO:0000309	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	566190	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	Small Intestinal Burkitt Lymphoma
EFO:0000574	EFO:0000309	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	566191	\N	\N	EFO	2	EFO	lymphoma	Small Intestinal Burkitt Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	566192	\N	\N	EFO	2	EFO	disease	Small Intestinal Burkitt Lymphoma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	1147550	\N	\N	EFO	3	EFO	lymphoid neoplasm	Small Intestinal Burkitt Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	1147551	\N	\N	EFO	3	EFO	lymphoid neoplasm	Small Intestinal Burkitt Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	5409236	\N	\N	EFO	7	EFO	disposition	Small Intestinal Burkitt Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	2029849	\N	\N	EFO	4	EFO	cancer	Small Intestinal Burkitt Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	2029850	\N	\N	EFO	4	EFO	hematological system disease	Small Intestinal Burkitt Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	5801813	\N	\N	EFO	8	EFO	material property	Small Intestinal Burkitt Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	3180619	\N	\N	EFO	5	EFO	neoplasm	Small Intestinal Burkitt Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	3180620	\N	\N	EFO	5	EFO	disease	Small Intestinal Burkitt Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	6378776	\N	\N	EFO	9	EFO	experimental factor	Small Intestinal Burkitt Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000533	"A Burkitt lymphoma that arises from the small intestine." []	4389315	\N	\N	EFO	6	EFO	disease	Small Intestinal Burkitt Lymphoma
EFO:1000534	\N	\N	"A diffuse large B-cell lymphoma that arises from the small intestine." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	70129	\N	\N	EFO	0	EFO	Small Intestinal Diffuse Large B-Cell Lymphoma	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0000403	EFO:1000534	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	212524	\N	\N	EFO	1	EFO	diffuse large B-cell lymphoma	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0000405	EFO:1000534	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	212525	\N	\N	EFO	1	EFO	digestive system disease	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0004142	EFO:1000534	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	212526	\N	\N	EFO	1	EFO	colorectal neoplasm	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0000096	EFO:0000403	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	566193	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0000574	EFO:0000403	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	566194	\N	\N	EFO	2	EFO	lymphoma	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	566195	\N	\N	EFO	2	EFO	disease	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	566196	\N	\N	EFO	2	EFO	neoplasm	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	1147553	\N	\N	EFO	3	EFO	lymphoid neoplasm	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	1147554	\N	\N	EFO	3	EFO	lymphoid neoplasm	Small Intestinal Diffuse Large B-Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	5028359	\N	\N	EFO	7	EFO	disposition	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	4389317	\N	\N	EFO	6	EFO	disease	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	2029852	\N	\N	EFO	4	EFO	cancer	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	2029853	\N	\N	EFO	4	EFO	hematological system disease	Small Intestinal Diffuse Large B-Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	5801814	\N	\N	EFO	8	EFO	material property	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	3180622	\N	\N	EFO	5	EFO	neoplasm	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	3180623	\N	\N	EFO	5	EFO	disease	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000534	"A diffuse large B-cell lymphoma that arises from the small intestine." []	6378777	\N	\N	EFO	9	EFO	experimental factor	Small Intestinal Diffuse Large B-Cell Lymphoma
EFO:1000535	\N	\N	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	70130	\N	\N	EFO	0	EFO	Small Intestinal Enteropathy-Associated T-Cell Lymphoma	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
EFO:0000405	EFO:1000535	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	212527	\N	\N	EFO	1	EFO	digestive system disease	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
EFO:0000574	EFO:1000535	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	212528	\N	\N	EFO	1	EFO	lymphoma	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	566197	\N	\N	EFO	2	EFO	disease	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	566198	\N	\N	EFO	2	EFO	lymphoid neoplasm	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	4389319	\N	\N	EFO	6	EFO	disposition	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	1147558	\N	\N	EFO	3	EFO	cancer	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	1147559	\N	\N	EFO	3	EFO	hematological system disease	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	5028360	\N	\N	EFO	7	EFO	material property	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	2029857	\N	\N	EFO	4	EFO	neoplasm	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	2029858	\N	\N	EFO	4	EFO	disease	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	5817401	\N	\N	EFO	8	EFO	experimental factor	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000535	"An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." []	3180626	\N	\N	EFO	5	EFO	disease	Small Intestinal Enteropathy-Associated T-Cell Lymphoma
EFO:1000536	\N	\N	"A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." []	EFO:1000536	"A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." []	70131	\N	\N	EFO	0	EFO	Small Intestinal Intraepithelial Neoplasia	Small Intestinal Intraepithelial Neoplasia
EFO:0000405	EFO:1000536	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000536	"A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." []	212529	\N	\N	EFO	1	EFO	digestive system disease	Small Intestinal Intraepithelial Neoplasia
EFO:0004142	EFO:1000536	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1000536	"A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." []	212530	\N	\N	EFO	1	EFO	colorectal neoplasm	Small Intestinal Intraepithelial Neoplasia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000536	"A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." []	566199	\N	\N	EFO	2	EFO	disease	Small Intestinal Intraepithelial Neoplasia
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000536	"A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." []	566200	\N	\N	EFO	2	EFO	neoplasm	Small Intestinal Intraepithelial Neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000536	"A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." []	2029860	\N	\N	EFO	4	EFO	disposition	Small Intestinal Intraepithelial Neoplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000536	"A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." []	1147561	\N	\N	EFO	3	EFO	disease	Small Intestinal Intraepithelial Neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000536	"A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." []	3000030	\N	\N	EFO	5	EFO	material property	Small Intestinal Intraepithelial Neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000536	"A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." []	4133016	\N	\N	EFO	6	EFO	experimental factor	Small Intestinal Intraepithelial Neoplasia
EFO:1000537	\N	\N	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	70132	\N	\N	EFO	0	EFO	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000405	EFO:1000537	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	212531	\N	\N	EFO	1	EFO	digestive system disease	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000574	EFO:1000537	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	212532	\N	\N	EFO	1	EFO	lymphoma	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	566201	\N	\N	EFO	2	EFO	disease	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	566202	\N	\N	EFO	2	EFO	lymphoid neoplasm	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	4389320	\N	\N	EFO	6	EFO	disposition	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	1147563	\N	\N	EFO	3	EFO	cancer	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	1147564	\N	\N	EFO	3	EFO	hematological system disease	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	5028361	\N	\N	EFO	7	EFO	material property	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	2029862	\N	\N	EFO	4	EFO	neoplasm	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	2029863	\N	\N	EFO	4	EFO	disease	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	5817402	\N	\N	EFO	8	EFO	experimental factor	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000537	"A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." []	3180630	\N	\N	EFO	5	EFO	disease	Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:1000538	\N	\N	"A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	EFO:1000538	"A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	70133	\N	\N	EFO	0	EFO	Small Intestinal Tubular Adenoma	Small Intestinal Tubular Adenoma
EFO:0000232	EFO:1000538	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000538	"A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	212533	\N	\N	EFO	1	EFO	adenoma	Small Intestinal Tubular Adenoma
EFO:0000405	EFO:1000538	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000538	"A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	212534	\N	\N	EFO	1	EFO	digestive system disease	Small Intestinal Tubular Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000538	"A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	566203	\N	\N	EFO	2	EFO	benign neoplasm	Small Intestinal Tubular Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000538	"A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	566204	\N	\N	EFO	2	EFO	disease	Small Intestinal Tubular Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000538	"A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	1147565	\N	\N	EFO	3	EFO	neoplasm	Small Intestinal Tubular Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000538	"A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	3180632	\N	\N	EFO	5	EFO	disposition	Small Intestinal Tubular Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000538	"A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	2029864	\N	\N	EFO	4	EFO	disease	Small Intestinal Tubular Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000538	"A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	4066782	\N	\N	EFO	6	EFO	material property	Small Intestinal Tubular Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000538	"A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." []	5059469	\N	\N	EFO	7	EFO	experimental factor	Small Intestinal Tubular Adenoma
EFO:1000539	\N	\N	"A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	EFO:1000539	"A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	70134	\N	\N	EFO	0	EFO	Small Intestinal Tubulovillous Adenoma	Small Intestinal Tubulovillous Adenoma
EFO:0000232	EFO:1000539	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000539	"A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	212535	\N	\N	EFO	1	EFO	adenoma	Small Intestinal Tubulovillous Adenoma
EFO:0000405	EFO:1000539	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000539	"A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	212536	\N	\N	EFO	1	EFO	digestive system disease	Small Intestinal Tubulovillous Adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000539	"A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	566205	\N	\N	EFO	2	EFO	benign neoplasm	Small Intestinal Tubulovillous Adenoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000539	"A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	566206	\N	\N	EFO	2	EFO	disease	Small Intestinal Tubulovillous Adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000539	"A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	1147567	\N	\N	EFO	3	EFO	neoplasm	Small Intestinal Tubulovillous Adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000539	"A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	3180634	\N	\N	EFO	5	EFO	disposition	Small Intestinal Tubulovillous Adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000539	"A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	2029866	\N	\N	EFO	4	EFO	disease	Small Intestinal Tubulovillous Adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000539	"A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	4066783	\N	\N	EFO	6	EFO	material property	Small Intestinal Tubulovillous Adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000539	"A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." []	5059470	\N	\N	EFO	7	EFO	experimental factor	Small Intestinal Tubulovillous Adenoma
EFO:1000540	\N	\N	"A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." []	EFO:1000540	"A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." []	70135	\N	\N	EFO	0	EFO	Soft Tissue Chondroma	Soft Tissue Chondroma
EFO:0000616	EFO:1000540	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000540	"A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." []	212537	\N	\N	EFO	1	EFO	neoplasm	Soft Tissue Chondroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000540	"A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." []	566207	\N	\N	EFO	2	EFO	disease	Soft Tissue Chondroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000540	"A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." []	1147569	\N	\N	EFO	3	EFO	disposition	Soft Tissue Chondroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000540	"A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." []	2029868	\N	\N	EFO	4	EFO	material property	Soft Tissue Chondroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000540	"A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." []	3180636	\N	\N	EFO	5	EFO	experimental factor	Soft Tissue Chondroma
EFO:1000541	\N	\N	"A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." []	EFO:1000541	"A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." []	70136	\N	\N	EFO	0	EFO	Soft Tissue Neoplasm	Soft Tissue Neoplasm
EFO:0000616	EFO:1000541	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000541	"A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." []	212538	\N	\N	EFO	1	EFO	neoplasm	Soft Tissue Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000541	"A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." []	566208	\N	\N	EFO	2	EFO	disease	Soft Tissue Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000541	"A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." []	1147570	\N	\N	EFO	3	EFO	disposition	Soft Tissue Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000541	"A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." []	2029869	\N	\N	EFO	4	EFO	material property	Soft Tissue Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000541	"A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." []	3180637	\N	\N	EFO	5	EFO	experimental factor	Soft Tissue Neoplasm
EFO:1000542	\N	\N	"A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." []	EFO:1000542	"A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." []	70137	\N	\N	EFO	0	EFO	Solid Pseudopapillary Neoplasm of the Pancreas	Solid Pseudopapillary Neoplasm of the Pancreas
EFO:0003860	EFO:1000542	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000542	"A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." []	212539	\N	\N	EFO	1	EFO	pancreatic neoplasm	Solid Pseudopapillary Neoplasm of the Pancreas
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000542	"A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." []	566209	\N	\N	EFO	2	EFO	endocrine neoplasm	Solid Pseudopapillary Neoplasm of the Pancreas
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000542	"A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." []	1147571	\N	\N	EFO	3	EFO	neoplasm	Solid Pseudopapillary Neoplasm of the Pancreas
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000542	"A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." []	1147572	\N	\N	EFO	3	EFO	endocrine system disease	Solid Pseudopapillary Neoplasm of the Pancreas
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000542	"A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." []	2029870	\N	\N	EFO	4	EFO	disease	Solid Pseudopapillary Neoplasm of the Pancreas
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000542	"A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." []	2029871	\N	\N	EFO	4	EFO	disease	Solid Pseudopapillary Neoplasm of the Pancreas
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000542	"A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." []	3180638	\N	\N	EFO	5	EFO	disposition	Solid Pseudopapillary Neoplasm of the Pancreas
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000542	"A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." []	4389321	\N	\N	EFO	6	EFO	material property	Solid Pseudopapillary Neoplasm of the Pancreas
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000542	"A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." []	5409237	\N	\N	EFO	7	EFO	experimental factor	Solid Pseudopapillary Neoplasm of the Pancreas
EFO:1000543	\N	\N	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	70138	\N	\N	EFO	0	EFO	Spinal Chordoma	Spinal Chordoma
EFO:0003820	EFO:1000543	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	212540	\N	\N	EFO	1	EFO	bone neoplasm	Spinal Chordoma
EFO:0003828	EFO:1000543	\N	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	212541	\N	\N	EFO	1	EFO	spinal cord neoplasm	Spinal Chordoma
EFO:0005784	EFO:1000543	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	212542	\N	\N	EFO	1	EFO	embryonal neoplasm	Spinal Chordoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	566210	\N	\N	EFO	2	EFO	neoplasm	Spinal Chordoma
EFO:0000616	EFO:0003828	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	566211	\N	\N	EFO	2	EFO	neoplasm	Spinal Chordoma
EFO:0000618	EFO:0003828	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	566212	\N	\N	EFO	2	EFO	nervous system disease	Spinal Chordoma
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	566213	\N	\N	EFO	2	EFO	neoplasm	Spinal Chordoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	1147573	\N	\N	EFO	3	EFO	disease	Spinal Chordoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	1147574	\N	\N	EFO	3	EFO	disease	Spinal Chordoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	2029872	\N	\N	EFO	4	EFO	disposition	Spinal Chordoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	3180639	\N	\N	EFO	5	EFO	material property	Spinal Chordoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000543	"A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." []	4389322	\N	\N	EFO	6	EFO	experimental factor	Spinal Chordoma
EFO:1000544	\N	\N	"A low or high grade astrocytoma that arises in the spinal cord." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	70139	\N	\N	EFO	0	EFO	Spinal Cord Astrocytoma	Spinal Cord Astrocytoma
EFO:0000272	EFO:1000544	\N	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	212543	\N	\N	EFO	1	EFO	astrocytoma	Spinal Cord Astrocytoma
EFO:0003828	EFO:1000544	\N	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	212544	\N	\N	EFO	1	EFO	spinal cord neoplasm	Spinal Cord Astrocytoma
EFO:0005543	EFO:0000272	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	566214	\N	\N	EFO	2	EFO	glioma	Spinal Cord Astrocytoma
EFO:0000616	EFO:0003828	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	566215	\N	\N	EFO	2	EFO	neoplasm	Spinal Cord Astrocytoma
EFO:0000618	EFO:0003828	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	566216	\N	\N	EFO	2	EFO	nervous system disease	Spinal Cord Astrocytoma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	1147575	\N	\N	EFO	3	EFO	central nervous system cancer	Spinal Cord Astrocytoma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	1147576	\N	\N	EFO	3	EFO	brain neoplasm	Spinal Cord Astrocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	4389323	\N	\N	EFO	6	EFO	disease	Spinal Cord Astrocytoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	4389324	\N	\N	EFO	6	EFO	disease	Spinal Cord Astrocytoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	2029873	\N	\N	EFO	4	EFO	cancer	Spinal Cord Astrocytoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	2029874	\N	\N	EFO	4	EFO	nervous system disease	Spinal Cord Astrocytoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	2029875	\N	\N	EFO	4	EFO	neoplasm	Spinal Cord Astrocytoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	2029876	\N	\N	EFO	4	EFO	brain disease	Spinal Cord Astrocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	5028362	\N	\N	EFO	7	EFO	disposition	Spinal Cord Astrocytoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	3180640	\N	\N	EFO	5	EFO	neoplasm	Spinal Cord Astrocytoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	3180643	\N	\N	EFO	5	EFO	nervous system disease	Spinal Cord Astrocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	5817403	\N	\N	EFO	8	EFO	material property	Spinal Cord Astrocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000544	"A low or high grade astrocytoma that arises in the spinal cord." []	6409768	\N	\N	EFO	9	EFO	experimental factor	Spinal Cord Astrocytoma
EFO:1000545	\N	\N	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	70140	\N	\N	EFO	0	EFO	Spinal Cord Primitive Neuroectodermal Tumor	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0003828	EFO:1000545	\N	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	212545	\N	\N	EFO	1	EFO	spinal cord neoplasm	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0005235	EFO:1000545	\N	"Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	212546	\N	\N	EFO	1	EFO	primitive neuroectodermal tumor	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0000616	EFO:0003828	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	566217	\N	\N	EFO	2	EFO	neoplasm	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0000618	EFO:0003828	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	566218	\N	\N	EFO	2	EFO	nervous system disease	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0003833	EFO:0005235	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	566219	\N	\N	EFO	2	EFO	brain neoplasm	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0005784	EFO:0005235	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	566220	\N	\N	EFO	2	EFO	embryonal neoplasm	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	2029879	\N	\N	EFO	4	EFO	disease	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	3180646	\N	\N	EFO	5	EFO	disease	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	1147581	\N	\N	EFO	3	EFO	neoplasm	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	1147582	\N	\N	EFO	3	EFO	brain disease	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	1147583	\N	\N	EFO	3	EFO	neoplasm	Spinal Cord Primitive Neuroectodermal Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	4066785	\N	\N	EFO	6	EFO	disposition	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	2029880	\N	\N	EFO	4	EFO	nervous system disease	Spinal Cord Primitive Neuroectodermal Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	5059472	\N	\N	EFO	7	EFO	material property	Spinal Cord Primitive Neuroectodermal Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000545	"A central nervous system primitive neuroectodermal tumor arising from the spinal cord." []	5876639	\N	\N	EFO	8	EFO	experimental factor	Spinal Cord Primitive Neuroectodermal Tumor
EFO:1000546	\N	\N	"A melanoma characterized by the presence of malignant spindle-shaped melanocytes." []	EFO:1000546	"A melanoma characterized by the presence of malignant spindle-shaped melanocytes." []	70141	\N	\N	EFO	0	EFO	Spindle Cell Melanoma	Spindle Cell Melanoma
EFO:0000705	EFO:1000546	\N	"A sarcoma that is composed of spindle cells with a rich vascular network." []	EFO:1000546	"A melanoma characterized by the presence of malignant spindle-shaped melanocytes." []	212547	\N	\N	EFO	1	EFO	spindle cell tumor	Spindle Cell Melanoma
EFO:0000691	EFO:0000705	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000546	"A melanoma characterized by the presence of malignant spindle-shaped melanocytes." []	566221	\N	\N	EFO	2	EFO	sarcoma	Spindle Cell Melanoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000546	"A melanoma characterized by the presence of malignant spindle-shaped melanocytes." []	1147584	\N	\N	EFO	3	EFO	cancer	Spindle Cell Melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000546	"A melanoma characterized by the presence of malignant spindle-shaped melanocytes." []	2029881	\N	\N	EFO	4	EFO	neoplasm	Spindle Cell Melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000546	"A melanoma characterized by the presence of malignant spindle-shaped melanocytes." []	3180647	\N	\N	EFO	5	EFO	disease	Spindle Cell Melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000546	"A melanoma characterized by the presence of malignant spindle-shaped melanocytes." []	4389327	\N	\N	EFO	6	EFO	disposition	Spindle Cell Melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000546	"A melanoma characterized by the presence of malignant spindle-shaped melanocytes." []	5409238	\N	\N	EFO	7	EFO	material property	Spindle Cell Melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000546	"A melanoma characterized by the presence of malignant spindle-shaped melanocytes." []	6147602	\N	\N	EFO	8	EFO	experimental factor	Spindle Cell Melanoma
EFO:1000547	\N	\N	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	70142	\N	\N	EFO	0	EFO	Splenic Diffuse Large B-Cell Lymphoma	Splenic Diffuse Large B-Cell Lymphoma
EFO:0000405	EFO:1000547	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	212548	\N	\N	EFO	1	EFO	digestive system disease	Splenic Diffuse Large B-Cell Lymphoma
EFO:0000574	EFO:1000547	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	212549	\N	\N	EFO	1	EFO	lymphoma	Splenic Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	566222	\N	\N	EFO	2	EFO	disease	Splenic Diffuse Large B-Cell Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	566223	\N	\N	EFO	2	EFO	lymphoid neoplasm	Splenic Diffuse Large B-Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	4389328	\N	\N	EFO	6	EFO	disposition	Splenic Diffuse Large B-Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	1147586	\N	\N	EFO	3	EFO	cancer	Splenic Diffuse Large B-Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	1147587	\N	\N	EFO	3	EFO	hematological system disease	Splenic Diffuse Large B-Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	5028363	\N	\N	EFO	7	EFO	material property	Splenic Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	2029883	\N	\N	EFO	4	EFO	neoplasm	Splenic Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	2029884	\N	\N	EFO	4	EFO	disease	Splenic Diffuse Large B-Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	5817404	\N	\N	EFO	8	EFO	experimental factor	Splenic Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000547	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" []	3180649	\N	\N	EFO	5	EFO	disease	Splenic Diffuse Large B-Cell Lymphoma
EFO:1000548	\N	\N	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	70143	\N	\N	EFO	0	EFO	Splenic Hodgkin Lymphoma	Splenic Hodgkin Lymphoma
EFO:0000183	EFO:1000548	\N	"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	212550	\N	\N	EFO	1	EFO	Hodgkins lymphoma	Splenic Hodgkin Lymphoma
EFO:0000405	EFO:1000548	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	212551	\N	\N	EFO	1	EFO	digestive system disease	Splenic Hodgkin Lymphoma
EFO:0000574	EFO:0000183	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	566224	\N	\N	EFO	2	EFO	lymphoma	Splenic Hodgkin Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	566225	\N	\N	EFO	2	EFO	disease	Splenic Hodgkin Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	1147588	\N	\N	EFO	3	EFO	lymphoid neoplasm	Splenic Hodgkin Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	5409239	\N	\N	EFO	7	EFO	disposition	Splenic Hodgkin Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	2029885	\N	\N	EFO	4	EFO	cancer	Splenic Hodgkin Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	2029886	\N	\N	EFO	4	EFO	hematological system disease	Splenic Hodgkin Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	5801815	\N	\N	EFO	8	EFO	material property	Splenic Hodgkin Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	3180651	\N	\N	EFO	5	EFO	neoplasm	Splenic Hodgkin Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	3180652	\N	\N	EFO	5	EFO	disease	Splenic Hodgkin Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	6378778	\N	\N	EFO	9	EFO	experimental factor	Splenic Hodgkin Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000548	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7295&ns=NCI_Thesaurus" []	4389329	\N	\N	EFO	6	EFO	disease	Splenic Hodgkin Lymphoma
EFO:1000549	\N	\N	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	70144	\N	\N	EFO	0	EFO	Splenic Mantle Cell Lymphoma	Splenic Mantle Cell Lymphoma
EFO:0000405	EFO:1000549	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	212552	\N	\N	EFO	1	EFO	digestive system disease	Splenic Mantle Cell Lymphoma
EFO:1001469	EFO:1000549	\N	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	212553	\N	\N	EFO	1	EFO	Mantle cell lymphoma	Splenic Mantle Cell Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	566226	\N	\N	EFO	2	EFO	disease	Splenic Mantle Cell Lymphoma
EFO:0005952	EFO:1001469	\N	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	566227	\N	\N	EFO	2	EFO	non-Hodgkins lymphoma	Splenic Mantle Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	6147603	\N	\N	EFO	8	EFO	disposition	Splenic Mantle Cell Lymphoma
EFO:0000574	EFO:0005952	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	1147591	\N	\N	EFO	3	EFO	lymphoma	Splenic Mantle Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	6370806	\N	\N	EFO	9	EFO	material property	Splenic Mantle Cell Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	2029889	\N	\N	EFO	4	EFO	lymphoid neoplasm	Splenic Mantle Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	6762344	\N	\N	EFO	10	EFO	experimental factor	Splenic Mantle Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	3180655	\N	\N	EFO	5	EFO	cancer	Splenic Mantle Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	3180656	\N	\N	EFO	5	EFO	hematological system disease	Splenic Mantle Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	4389331	\N	\N	EFO	6	EFO	neoplasm	Splenic Mantle Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	4389332	\N	\N	EFO	6	EFO	disease	Splenic Mantle Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000549	"https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" []	5409240	\N	\N	EFO	7	EFO	disease	Splenic Mantle Cell Lymphoma
EFO:1000550	\N	\N	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	70145	\N	\N	EFO	0	EFO	Splenic Marginal Zone Lymphoma	Splenic Marginal Zone Lymphoma
EFO:0000405	EFO:1000550	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	212554	\N	\N	EFO	1	EFO	digestive system disease	Splenic Marginal Zone Lymphoma
EFO:1000630	EFO:1000550	\N	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	212555	\N	\N	EFO	1	EFO	marginal zone B-cell lymphoma	Splenic Marginal Zone Lymphoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	566228	\N	\N	EFO	2	EFO	disease	Splenic Marginal Zone Lymphoma
EFO:0005952	EFO:1000630	\N	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	566229	\N	\N	EFO	2	EFO	non-Hodgkins lymphoma	Splenic Marginal Zone Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	6147604	\N	\N	EFO	8	EFO	disposition	Splenic Marginal Zone Lymphoma
EFO:0000574	EFO:0005952	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	1147593	\N	\N	EFO	3	EFO	lymphoma	Splenic Marginal Zone Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	6370807	\N	\N	EFO	9	EFO	material property	Splenic Marginal Zone Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	2029891	\N	\N	EFO	4	EFO	lymphoid neoplasm	Splenic Marginal Zone Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	6762345	\N	\N	EFO	10	EFO	experimental factor	Splenic Marginal Zone Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	3180658	\N	\N	EFO	5	EFO	cancer	Splenic Marginal Zone Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	3180659	\N	\N	EFO	5	EFO	hematological system disease	Splenic Marginal Zone Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	4389333	\N	\N	EFO	6	EFO	neoplasm	Splenic Marginal Zone Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	4389334	\N	\N	EFO	6	EFO	disease	Splenic Marginal Zone Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000550	"A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" []	5409242	\N	\N	EFO	7	EFO	disease	Splenic Marginal Zone Lymphoma
EFO:1000551	\N	\N	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	70146	\N	\N	EFO	0	EFO	Stromal Predominant Kidney Wilms Tumor	Stromal Predominant Kidney Wilms Tumor
EFO:0003865	EFO:1000551	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	212556	\N	\N	EFO	1	EFO	kidney neoplasm	Stromal Predominant Kidney Wilms Tumor
Orphanet:654	EFO:1000551	\N	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	212557	\N	\N	EFO	1	EFO	Nephroblastoma	Stromal Predominant Kidney Wilms Tumor
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	566230	\N	\N	EFO	2	EFO	kidney disease	Stromal Predominant Kidney Wilms Tumor
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	566231	\N	\N	EFO	2	EFO	urogenital neoplasm	Stromal Predominant Kidney Wilms Tumor
EFO:0005784	Orphanet:654	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	566232	\N	\N	EFO	2	EFO	embryonal neoplasm	Stromal Predominant Kidney Wilms Tumor
Orphanet:183595	Orphanet:654	\N	"" []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	566233	\N	\N	EFO	2	EFO	Genetic renal tumor	Stromal Predominant Kidney Wilms Tumor
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	1147594	\N	\N	EFO	3	EFO	disease	Stromal Predominant Kidney Wilms Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	2029894	\N	\N	EFO	4	EFO	neoplasm	Stromal Predominant Kidney Wilms Tumor
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	1147596	\N	\N	EFO	3	EFO	neoplasm	Stromal Predominant Kidney Wilms Tumor
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	1147597	\N	\N	EFO	3	EFO	urogenital neoplasm	Stromal Predominant Kidney Wilms Tumor
Orphanet:68336	Orphanet:183595	\N	"" []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	1147598	\N	\N	EFO	3	EFO	Rare genetic tumor	Stromal Predominant Kidney Wilms Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	4133019	\N	\N	EFO	6	EFO	disposition	Stromal Predominant Kidney Wilms Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	3000032	\N	\N	EFO	5	EFO	disease	Stromal Predominant Kidney Wilms Tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	2029895	\N	\N	EFO	4	EFO	genetic disorder	Stromal Predominant Kidney Wilms Tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	2029896	\N	\N	EFO	4	EFO	neoplasm	Stromal Predominant Kidney Wilms Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	5059474	\N	\N	EFO	7	EFO	material property	Stromal Predominant Kidney Wilms Tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	3180662	\N	\N	EFO	5	EFO	disease	Stromal Predominant Kidney Wilms Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000551	"Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." []	5876640	\N	\N	EFO	8	EFO	experimental factor	Stromal Predominant Kidney Wilms Tumor
EFO:1000552	\N	\N	"A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas." []	EFO:1000552	"A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas." []	70147	\N	\N	EFO	0	EFO	Subcutaneous Panniculitis-Like T-Cell Lymphoma	Subcutaneous Panniculitis-Like T-Cell Lymphoma
EFO:0000574	EFO:1000552	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000552	"A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas." []	212558	\N	\N	EFO	1	EFO	lymphoma	Subcutaneous Panniculitis-Like T-Cell Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000552	"A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas." []	566234	\N	\N	EFO	2	EFO	lymphoid neoplasm	Subcutaneous Panniculitis-Like T-Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000552	"A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas." []	1147599	\N	\N	EFO	3	EFO	cancer	Subcutaneous Panniculitis-Like T-Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000552	"A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas." []	1147600	\N	\N	EFO	3	EFO	hematological system disease	Subcutaneous Panniculitis-Like T-Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000552	"A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas." []	2029897	\N	\N	EFO	4	EFO	neoplasm	Subcutaneous Panniculitis-Like T-Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000552	"A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas." []	2029898	\N	\N	EFO	4	EFO	disease	Subcutaneous Panniculitis-Like T-Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000552	"A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas." []	3180663	\N	\N	EFO	5	EFO	disease	Subcutaneous Panniculitis-Like T-Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000552	"A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas." []	4389336	\N	\N	EFO	6	EFO	disposition	Subcutaneous Panniculitis-Like T-Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000552	"A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas." []	5181277	\N	\N	EFO	7	EFO	material property	Subcutaneous Panniculitis-Like T-Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000552	"A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas." []	5996721	\N	\N	EFO	8	EFO	experimental factor	Subcutaneous Panniculitis-Like T-Cell Lymphoma
EFO:1000553	\N	\N	"A benign, slow growing neoplasm which is typically attached to a ventricular wall. It is composed of glial tumor cell clusters embedded in an abundant fibrillary matrix with frequent microcystic change. Some lesions have the histological features of both subependymoma and ependymoma. It is often detected incidentally and has a very favorable prognosis. (Adapted from WHO.)" []	EFO:1000553	"A benign, slow growing neoplasm which is typically attached to a ventricular wall. It is composed of glial tumor cell clusters embedded in an abundant fibrillary matrix with frequent microcystic change. Some lesions have the histological features of both subependymoma and ependymoma. It is often detected incidentally and has a very favorable prognosis. (Adapted from WHO.)" []	70148	\N	\N	EFO	0	EFO	Subependymoma	Subependymoma
EFO:0000616	EFO:1000553	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000553	"A benign, slow growing neoplasm which is typically attached to a ventricular wall. It is composed of glial tumor cell clusters embedded in an abundant fibrillary matrix with frequent microcystic change. Some lesions have the histological features of both subependymoma and ependymoma. It is often detected incidentally and has a very favorable prognosis. (Adapted from WHO.)" []	212559	\N	\N	EFO	1	EFO	neoplasm	Subependymoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000553	"A benign, slow growing neoplasm which is typically attached to a ventricular wall. It is composed of glial tumor cell clusters embedded in an abundant fibrillary matrix with frequent microcystic change. Some lesions have the histological features of both subependymoma and ependymoma. It is often detected incidentally and has a very favorable prognosis. (Adapted from WHO.)" []	566235	\N	\N	EFO	2	EFO	disease	Subependymoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000553	"A benign, slow growing neoplasm which is typically attached to a ventricular wall. It is composed of glial tumor cell clusters embedded in an abundant fibrillary matrix with frequent microcystic change. Some lesions have the histological features of both subependymoma and ependymoma. It is often detected incidentally and has a very favorable prognosis. (Adapted from WHO.)" []	1147601	\N	\N	EFO	3	EFO	disposition	Subependymoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000553	"A benign, slow growing neoplasm which is typically attached to a ventricular wall. It is composed of glial tumor cell clusters embedded in an abundant fibrillary matrix with frequent microcystic change. Some lesions have the histological features of both subependymoma and ependymoma. It is often detected incidentally and has a very favorable prognosis. (Adapted from WHO.)" []	2029899	\N	\N	EFO	4	EFO	material property	Subependymoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000553	"A benign, slow growing neoplasm which is typically attached to a ventricular wall. It is composed of glial tumor cell clusters embedded in an abundant fibrillary matrix with frequent microcystic change. Some lesions have the histological features of both subependymoma and ependymoma. It is often detected incidentally and has a very favorable prognosis. (Adapted from WHO.)" []	3180665	\N	\N	EFO	5	EFO	experimental factor	Subependymoma
EFO:1000554	\N	\N	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	70149	\N	\N	EFO	0	EFO	Submandibular Gland Adenocarcinoma	Submandibular Gland Adenocarcinoma
EFO:0000228	EFO:1000554	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	212560	\N	\N	EFO	1	EFO	adenocarcinoma	Submandibular Gland Adenocarcinoma
EFO:1001853	EFO:1000554	\N	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	212561	\N	\N	EFO	1	EFO	submandibular gland neoplasm	Submandibular Gland Adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	566236	\N	\N	EFO	2	EFO	carcinoma	Submandibular Gland Adenocarcinoma
EFO:0000405	EFO:1001853	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	566237	\N	\N	EFO	2	EFO	digestive system disease	Submandibular Gland Adenocarcinoma
EFO:0005950	EFO:1001853	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	566238	\N	\N	EFO	2	EFO	head and neck neoplasia	Submandibular Gland Adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	1147602	\N	\N	EFO	3	EFO	cancer	Submandibular Gland Adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	1147603	\N	\N	EFO	3	EFO	epithelial neoplasm	Submandibular Gland Adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	1147604	\N	\N	EFO	3	EFO	disease	Submandibular Gland Adenocarcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	1147605	\N	\N	EFO	3	EFO	head disease	Submandibular Gland Adenocarcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	1147606	\N	\N	EFO	3	EFO	neoplasm	Submandibular Gland Adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	2029900	\N	\N	EFO	4	EFO	neoplasm	Submandibular Gland Adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	2029901	\N	\N	EFO	4	EFO	neoplasm	Submandibular Gland Adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	4133021	\N	\N	EFO	6	EFO	disposition	Submandibular Gland Adenocarcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	2029903	\N	\N	EFO	4	EFO	disease	Submandibular Gland Adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	3180666	\N	\N	EFO	5	EFO	disease	Submandibular Gland Adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	5059475	\N	\N	EFO	7	EFO	material property	Submandibular Gland Adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000554	"An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." []	5876641	\N	\N	EFO	8	EFO	experimental factor	Submandibular Gland Adenocarcinoma
EFO:1000555	\N	\N	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	70150	\N	\N	EFO	0	EFO	Submandibular Gland Adenoid Cystic Carcinoma	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0000231	EFO:1000555	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	212562	\N	\N	EFO	1	EFO	adenoid cystic carcinoma	Submandibular Gland Adenoid Cystic Carcinoma
EFO:1001853	EFO:1000555	\N	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	212563	\N	\N	EFO	1	EFO	submandibular gland neoplasm	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	566239	\N	\N	EFO	2	EFO	carcinoma	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0000405	EFO:1001853	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	566240	\N	\N	EFO	2	EFO	digestive system disease	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0005950	EFO:1001853	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	566241	\N	\N	EFO	2	EFO	head and neck neoplasia	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	1147607	\N	\N	EFO	3	EFO	cancer	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	1147608	\N	\N	EFO	3	EFO	epithelial neoplasm	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	1147609	\N	\N	EFO	3	EFO	disease	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	1147610	\N	\N	EFO	3	EFO	head disease	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	1147611	\N	\N	EFO	3	EFO	neoplasm	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	2029905	\N	\N	EFO	4	EFO	neoplasm	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	2029906	\N	\N	EFO	4	EFO	neoplasm	Submandibular Gland Adenoid Cystic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	4133023	\N	\N	EFO	6	EFO	disposition	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	2029908	\N	\N	EFO	4	EFO	disease	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	3180669	\N	\N	EFO	5	EFO	disease	Submandibular Gland Adenoid Cystic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	5059476	\N	\N	EFO	7	EFO	material property	Submandibular Gland Adenoid Cystic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000555	"An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." []	5876642	\N	\N	EFO	8	EFO	experimental factor	Submandibular Gland Adenoid Cystic Carcinoma
EFO:1000556	\N	\N	"A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." []	EFO:1000556	"A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." []	70151	\N	\N	EFO	0	EFO	Superficial Fibromatosis	Superficial Fibromatosis
EFO:0000497	EFO:1000556	\N	"A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." []	EFO:1000556	"A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." []	212564	\N	\N	EFO	1	EFO	fibromatosis	Superficial Fibromatosis
EFO:0000616	EFO:0000497	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000556	"A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." []	566242	\N	\N	EFO	2	EFO	neoplasm	Superficial Fibromatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000556	"A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." []	1147612	\N	\N	EFO	3	EFO	disease	Superficial Fibromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000556	"A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." []	2029910	\N	\N	EFO	4	EFO	disposition	Superficial Fibromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000556	"A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." []	3180672	\N	\N	EFO	5	EFO	material property	Superficial Fibromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000556	"A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." []	4389340	\N	\N	EFO	6	EFO	experimental factor	Superficial Fibromatosis
EFO:1000557	\N	\N	"An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion." []	EFO:1000557	"An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion." []	70152	\N	\N	EFO	0	EFO	Synovial Chondromatosis	Synovial Chondromatosis
EFO:0000691	EFO:1000557	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000557	"An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion." []	212565	\N	\N	EFO	1	EFO	sarcoma	Synovial Chondromatosis
EFO:0002461	EFO:1000557	\N	"Any disease which affects part of the skeletal system." []	EFO:1000557	"An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion." []	212566	\N	\N	EFO	1	EFO	skeletal system disease	Synovial Chondromatosis
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000557	"An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion." []	566243	\N	\N	EFO	2	EFO	cancer	Synovial Chondromatosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000557	"An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion." []	566244	\N	\N	EFO	2	EFO	disease	Synovial Chondromatosis
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000557	"An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion." []	1147613	\N	\N	EFO	3	EFO	neoplasm	Synovial Chondromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000557	"An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion." []	3180673	\N	\N	EFO	5	EFO	disposition	Synovial Chondromatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000557	"An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion." []	2029911	\N	\N	EFO	4	EFO	disease	Synovial Chondromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000557	"An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion." []	4066787	\N	\N	EFO	6	EFO	material property	Synovial Chondromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000557	"An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion." []	5059477	\N	\N	EFO	7	EFO	experimental factor	Synovial Chondromatosis
EFO:1000558	\N	\N	"A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." []	EFO:1000558	"A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." []	70153	\N	\N	EFO	0	EFO	Syringocystadenoma Papilliferum	Syringocystadenoma Papilliferum
EFO:0000232	EFO:1000558	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000558	"A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." []	212567	\N	\N	EFO	1	EFO	adenoma	Syringocystadenoma Papilliferum
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000558	"A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." []	566245	\N	\N	EFO	2	EFO	benign neoplasm	Syringocystadenoma Papilliferum
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000558	"A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." []	1147615	\N	\N	EFO	3	EFO	neoplasm	Syringocystadenoma Papilliferum
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000558	"A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." []	2029913	\N	\N	EFO	4	EFO	disease	Syringocystadenoma Papilliferum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000558	"A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." []	3180675	\N	\N	EFO	5	EFO	disposition	Syringocystadenoma Papilliferum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000558	"A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." []	4389341	\N	\N	EFO	6	EFO	material property	Syringocystadenoma Papilliferum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000558	"A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." []	5409245	\N	\N	EFO	7	EFO	experimental factor	Syringocystadenoma Papilliferum
EFO:1000559	\N	\N	"A disorder characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells and the presence of a clonal non-mast cell hematologic neoplasm (e.g., myelodysplastic syndrome, chronic myeloproliferative disorder, acute myeloid leukemia, and lymphoma)." []	EFO:1000559	"A disorder characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells and the presence of a clonal non-mast cell hematologic neoplasm (e.g., myelodysplastic syndrome, chronic myeloproliferative disorder, acute myeloid leukemia, and lymphoma)." []	70154	\N	\N	EFO	0	EFO	Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease	Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease
EFO:0005803	EFO:1000559	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000559	"A disorder characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells and the presence of a clonal non-mast cell hematologic neoplasm (e.g., myelodysplastic syndrome, chronic myeloproliferative disorder, acute myeloid leukemia, and lymphoma)." []	212568	\N	\N	EFO	1	EFO	hematological system disease	Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000559	"A disorder characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells and the presence of a clonal non-mast cell hematologic neoplasm (e.g., myelodysplastic syndrome, chronic myeloproliferative disorder, acute myeloid leukemia, and lymphoma)." []	566246	\N	\N	EFO	2	EFO	disease	Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000559	"A disorder characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells and the presence of a clonal non-mast cell hematologic neoplasm (e.g., myelodysplastic syndrome, chronic myeloproliferative disorder, acute myeloid leukemia, and lymphoma)." []	1147616	\N	\N	EFO	3	EFO	disposition	Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000559	"A disorder characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells and the presence of a clonal non-mast cell hematologic neoplasm (e.g., myelodysplastic syndrome, chronic myeloproliferative disorder, acute myeloid leukemia, and lymphoma)." []	2029914	\N	\N	EFO	4	EFO	material property	Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000559	"A disorder characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells and the presence of a clonal non-mast cell hematologic neoplasm (e.g., myelodysplastic syndrome, chronic myeloproliferative disorder, acute myeloid leukemia, and lymphoma)." []	3180676	\N	\N	EFO	5	EFO	experimental factor	Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease
EFO:1000560	\N	\N	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	EFO:1000560	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	70155	\N	\N	EFO	0	EFO	T-Cell Prolymphocytic Leukemia	T-Cell Prolymphocytic Leukemia
EFO:0004289	EFO:1000560	\N	"Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts." []	EFO:1000560	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	212569	\N	\N	EFO	1	EFO	lymphoid leukemia	T-Cell Prolymphocytic Leukemia
EFO:0000565	EFO:0004289	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1000560	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	566247	\N	\N	EFO	2	EFO	leukemia	T-Cell Prolymphocytic Leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000560	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	1147617	\N	\N	EFO	3	EFO	lymphoid neoplasm	T-Cell Prolymphocytic Leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000560	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	2029915	\N	\N	EFO	4	EFO	cancer	T-Cell Prolymphocytic Leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000560	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	2029916	\N	\N	EFO	4	EFO	hematological system disease	T-Cell Prolymphocytic Leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000560	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	3180677	\N	\N	EFO	5	EFO	neoplasm	T-Cell Prolymphocytic Leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000560	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	3180678	\N	\N	EFO	5	EFO	disease	T-Cell Prolymphocytic Leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000560	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	4389342	\N	\N	EFO	6	EFO	disease	T-Cell Prolymphocytic Leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000560	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	5409246	\N	\N	EFO	7	EFO	disposition	T-Cell Prolymphocytic Leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000560	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	5996722	\N	\N	EFO	8	EFO	material property	T-Cell Prolymphocytic Leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000560	"An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" []	6550407	\N	\N	EFO	9	EFO	experimental factor	T-Cell Prolymphocytic Leukemia
EFO:1000561	\N	\N	"A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." []	EFO:1000561	"A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." []	70156	\N	\N	EFO	0	EFO	Tendon Sheath Fibroma	Tendon Sheath Fibroma
EFO:0002424	EFO:1000561	\N	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	EFO:1000561	"A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." []	212570	\N	\N	EFO	1	EFO	fibroma	Tendon Sheath Fibroma
EFO:0002422	EFO:0002424	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000561	"A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." []	566248	\N	\N	EFO	2	EFO	benign neoplasm	Tendon Sheath Fibroma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000561	"A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." []	1147618	\N	\N	EFO	3	EFO	neoplasm	Tendon Sheath Fibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000561	"A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." []	2029917	\N	\N	EFO	4	EFO	disease	Tendon Sheath Fibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000561	"A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." []	3180679	\N	\N	EFO	5	EFO	disposition	Tendon Sheath Fibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000561	"A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." []	4389344	\N	\N	EFO	6	EFO	material property	Tendon Sheath Fibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000561	"A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." []	5409248	\N	\N	EFO	7	EFO	experimental factor	Tendon Sheath Fibroma
EFO:1000562	\N	\N	"A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." []	EFO:1000562	"A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." []	70157	\N	\N	EFO	0	EFO	Tenosynovial Giant Cell Tumor	Tenosynovial Giant Cell Tumor
EFO:0000616	EFO:1000562	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000562	"A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." []	212571	\N	\N	EFO	1	EFO	neoplasm	Tenosynovial Giant Cell Tumor
EFO:0002461	EFO:1000562	\N	"Any disease which affects part of the skeletal system." []	EFO:1000562	"A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." []	212572	\N	\N	EFO	1	EFO	skeletal system disease	Tenosynovial Giant Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000562	"A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." []	566249	\N	\N	EFO	2	EFO	disease	Tenosynovial Giant Cell Tumor
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000562	"A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." []	566250	\N	\N	EFO	2	EFO	disease	Tenosynovial Giant Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000562	"A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." []	1147619	\N	\N	EFO	3	EFO	disposition	Tenosynovial Giant Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000562	"A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." []	2029918	\N	\N	EFO	4	EFO	material property	Tenosynovial Giant Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000562	"A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." []	3180680	\N	\N	EFO	5	EFO	experimental factor	Tenosynovial Giant Cell Tumor
EFO:1000563	\N	\N	"A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." []	EFO:1000563	"A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." []	70158	\N	\N	EFO	0	EFO	Teratoma with Malignant Transformation	Teratoma with Malignant Transformation
EFO:0000514	EFO:1000563	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000563	"A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." []	212573	\N	\N	EFO	1	EFO	germ cell tumor	Teratoma with Malignant Transformation
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000563	"A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." []	566251	\N	\N	EFO	2	EFO	neoplasm	Teratoma with Malignant Transformation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000563	"A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." []	1147620	\N	\N	EFO	3	EFO	disease	Teratoma with Malignant Transformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000563	"A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." []	2029919	\N	\N	EFO	4	EFO	disposition	Teratoma with Malignant Transformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000563	"A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." []	3180681	\N	\N	EFO	5	EFO	material property	Teratoma with Malignant Transformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000563	"A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." []	4389345	\N	\N	EFO	6	EFO	experimental factor	Teratoma with Malignant Transformation
EFO:1000564	\N	\N	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	70159	\N	\N	EFO	0	EFO	Testicular Choriocarcinoma	Testicular Choriocarcinoma
EFO:0002893	EFO:1000564	\N	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	212574	\N	\N	EFO	1	EFO	choriocarcinoma	Testicular Choriocarcinoma
EFO:0000514	EFO:0002893	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	566252	\N	\N	EFO	2	EFO	germ cell tumor	Testicular Choriocarcinoma
EFO:0003859	EFO:0002893	\N	"Tumors or cancer of the UTERUS." []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	566253	\N	\N	EFO	2	EFO	uterine neoplasm	Testicular Choriocarcinoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	1147621	\N	\N	EFO	3	EFO	neoplasm	Testicular Choriocarcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	1147622	\N	\N	EFO	3	EFO	reproductive system disease	Testicular Choriocarcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	1147623	\N	\N	EFO	3	EFO	urogenital neoplasm	Testicular Choriocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	3180683	\N	\N	EFO	5	EFO	disease	Testicular Choriocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	2029921	\N	\N	EFO	4	EFO	disease	Testicular Choriocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	2029922	\N	\N	EFO	4	EFO	neoplasm	Testicular Choriocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	4133024	\N	\N	EFO	6	EFO	disposition	Testicular Choriocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	5181280	\N	\N	EFO	7	EFO	material property	Testicular Choriocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000564	"A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." []	5996723	\N	\N	EFO	8	EFO	experimental factor	Testicular Choriocarcinoma
EFO:1000565	\N	\N	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	70160	\N	\N	EFO	0	EFO	Testicular Embryonal Carcinoma	Testicular Embryonal Carcinoma
EFO:0000512	EFO:1000565	\N	"any diease of the reproductive system" []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	212575	\N	\N	EFO	1	EFO	reproductive system disease	Testicular Embryonal Carcinoma
EFO:0000514	EFO:1000565	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	212576	\N	\N	EFO	1	EFO	germ cell tumor	Testicular Embryonal Carcinoma
EFO:0004281	EFO:1000565	\N	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	212577	\N	\N	EFO	1	EFO	testicular neoplasm	Testicular Embryonal Carcinoma
EFO:0005784	EFO:1000565	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	212578	\N	\N	EFO	1	EFO	embryonal neoplasm	Testicular Embryonal Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	566254	\N	\N	EFO	2	EFO	disease	Testicular Embryonal Carcinoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	566255	\N	\N	EFO	2	EFO	neoplasm	Testicular Embryonal Carcinoma
EFO:0003863	EFO:0004281	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	566256	\N	\N	EFO	2	EFO	urogenital neoplasm	Testicular Embryonal Carcinoma
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	566257	\N	\N	EFO	2	EFO	neoplasm	Testicular Embryonal Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	3000034	\N	\N	EFO	5	EFO	disposition	Testicular Embryonal Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	2029925	\N	\N	EFO	4	EFO	disease	Testicular Embryonal Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	1147626	\N	\N	EFO	3	EFO	neoplasm	Testicular Embryonal Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	4066788	\N	\N	EFO	6	EFO	material property	Testicular Embryonal Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000565	"A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." []	5059478	\N	\N	EFO	7	EFO	experimental factor	Testicular Embryonal Carcinoma
EFO:1000566	\N	\N	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	EFO:1000566	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	70161	\N	\N	EFO	0	EFO	Testicular Germ Cell Tumor	Testicular Germ Cell Tumor
EFO:0000512	EFO:1000566	\N	"any diease of the reproductive system" []	EFO:1000566	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	212579	\N	\N	EFO	1	EFO	reproductive system disease	Testicular Germ Cell Tumor
EFO:0000514	EFO:1000566	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000566	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	212580	\N	\N	EFO	1	EFO	germ cell tumor	Testicular Germ Cell Tumor
EFO:0004281	EFO:1000566	\N	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	EFO:1000566	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	212581	\N	\N	EFO	1	EFO	testicular neoplasm	Testicular Germ Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000566	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	566258	\N	\N	EFO	2	EFO	disease	Testicular Germ Cell Tumor
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000566	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	566259	\N	\N	EFO	2	EFO	neoplasm	Testicular Germ Cell Tumor
EFO:0003863	EFO:0004281	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000566	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	566260	\N	\N	EFO	2	EFO	urogenital neoplasm	Testicular Germ Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000566	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	3000036	\N	\N	EFO	5	EFO	disposition	Testicular Germ Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000566	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	2029928	\N	\N	EFO	4	EFO	disease	Testicular Germ Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000566	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	1147629	\N	\N	EFO	3	EFO	neoplasm	Testicular Germ Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000566	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	4066789	\N	\N	EFO	6	EFO	material property	Testicular Germ Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000566	"A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." []	5059479	\N	\N	EFO	7	EFO	experimental factor	Testicular Germ Cell Tumor
EFO:1000567	\N	\N	"A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." []	EFO:1000567	"A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." []	70162	\N	\N	EFO	0	EFO	Testicular Granulosa Cell Tumor	Testicular Granulosa Cell Tumor
EFO:0000512	EFO:1000567	\N	"any diease of the reproductive system" []	EFO:1000567	"A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." []	212582	\N	\N	EFO	1	EFO	reproductive system disease	Testicular Granulosa Cell Tumor
EFO:0004281	EFO:1000567	\N	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	EFO:1000567	"A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." []	212583	\N	\N	EFO	1	EFO	testicular neoplasm	Testicular Granulosa Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000567	"A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." []	566261	\N	\N	EFO	2	EFO	disease	Testicular Granulosa Cell Tumor
EFO:0003863	EFO:0004281	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000567	"A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." []	566262	\N	\N	EFO	2	EFO	urogenital neoplasm	Testicular Granulosa Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000567	"A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." []	3180687	\N	\N	EFO	5	EFO	disposition	Testicular Granulosa Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000567	"A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." []	1147631	\N	\N	EFO	3	EFO	neoplasm	Testicular Granulosa Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000567	"A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." []	4066790	\N	\N	EFO	6	EFO	material property	Testicular Granulosa Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000567	"A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." []	2029930	\N	\N	EFO	4	EFO	disease	Testicular Granulosa Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000567	"A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." []	5059480	\N	\N	EFO	7	EFO	experimental factor	Testicular Granulosa Cell Tumor
EFO:1000568	\N	\N	"A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma." []	EFO:1000568	"A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma." []	70163	\N	\N	EFO	0	EFO	Testicular Large Cell Calcifying Sertoli Cell Tumor	Testicular Large Cell Calcifying Sertoli Cell Tumor
EFO:0000512	EFO:1000568	\N	"any diease of the reproductive system" []	EFO:1000568	"A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma." []	212584	\N	\N	EFO	1	EFO	reproductive system disease	Testicular Large Cell Calcifying Sertoli Cell Tumor
EFO:0004281	EFO:1000568	\N	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	EFO:1000568	"A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma." []	212585	\N	\N	EFO	1	EFO	testicular neoplasm	Testicular Large Cell Calcifying Sertoli Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000568	"A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma." []	566263	\N	\N	EFO	2	EFO	disease	Testicular Large Cell Calcifying Sertoli Cell Tumor
EFO:0003863	EFO:0004281	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000568	"A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma." []	566264	\N	\N	EFO	2	EFO	urogenital neoplasm	Testicular Large Cell Calcifying Sertoli Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000568	"A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma." []	3180689	\N	\N	EFO	5	EFO	disposition	Testicular Large Cell Calcifying Sertoli Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000568	"A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma." []	1147633	\N	\N	EFO	3	EFO	neoplasm	Testicular Large Cell Calcifying Sertoli Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000568	"A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma." []	4066791	\N	\N	EFO	6	EFO	material property	Testicular Large Cell Calcifying Sertoli Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000568	"A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma." []	2029932	\N	\N	EFO	4	EFO	disease	Testicular Large Cell Calcifying Sertoli Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000568	"A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma." []	5059481	\N	\N	EFO	7	EFO	experimental factor	Testicular Large Cell Calcifying Sertoli Cell Tumor
EFO:1000569	\N	\N	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." []	EFO:1000569	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." []	70164	\N	\N	EFO	0	EFO	Testicular Leydig Cell Tumor	Testicular Leydig Cell Tumor
EFO:0000512	EFO:1000569	\N	"any diease of the reproductive system" []	EFO:1000569	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." []	212586	\N	\N	EFO	1	EFO	reproductive system disease	Testicular Leydig Cell Tumor
EFO:0004281	EFO:1000569	\N	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	EFO:1000569	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." []	212587	\N	\N	EFO	1	EFO	testicular neoplasm	Testicular Leydig Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000569	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." []	566265	\N	\N	EFO	2	EFO	disease	Testicular Leydig Cell Tumor
EFO:0003863	EFO:0004281	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000569	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." []	566266	\N	\N	EFO	2	EFO	urogenital neoplasm	Testicular Leydig Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000569	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." []	3180691	\N	\N	EFO	5	EFO	disposition	Testicular Leydig Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000569	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." []	1147635	\N	\N	EFO	3	EFO	neoplasm	Testicular Leydig Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000569	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." []	4066792	\N	\N	EFO	6	EFO	material property	Testicular Leydig Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000569	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." []	2029934	\N	\N	EFO	4	EFO	disease	Testicular Leydig Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000569	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." []	5059482	\N	\N	EFO	7	EFO	experimental factor	Testicular Leydig Cell Tumor
EFO:1000570	\N	\N	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	EFO:1000570	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	70165	\N	\N	EFO	0	EFO	Testicular Non-Seminomatous Germ Cell Tumor	Testicular Non-Seminomatous Germ Cell Tumor
EFO:0000512	EFO:1000570	\N	"any diease of the reproductive system" []	EFO:1000570	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	212588	\N	\N	EFO	1	EFO	reproductive system disease	Testicular Non-Seminomatous Germ Cell Tumor
EFO:0000514	EFO:1000570	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000570	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	212589	\N	\N	EFO	1	EFO	germ cell tumor	Testicular Non-Seminomatous Germ Cell Tumor
EFO:0004281	EFO:1000570	\N	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	EFO:1000570	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	212590	\N	\N	EFO	1	EFO	testicular neoplasm	Testicular Non-Seminomatous Germ Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000570	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	566267	\N	\N	EFO	2	EFO	disease	Testicular Non-Seminomatous Germ Cell Tumor
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000570	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	566268	\N	\N	EFO	2	EFO	neoplasm	Testicular Non-Seminomatous Germ Cell Tumor
EFO:0003863	EFO:0004281	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000570	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	566269	\N	\N	EFO	2	EFO	urogenital neoplasm	Testicular Non-Seminomatous Germ Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000570	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	3000038	\N	\N	EFO	5	EFO	disposition	Testicular Non-Seminomatous Germ Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000570	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	2029937	\N	\N	EFO	4	EFO	disease	Testicular Non-Seminomatous Germ Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000570	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	1147638	\N	\N	EFO	3	EFO	neoplasm	Testicular Non-Seminomatous Germ Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000570	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	4066793	\N	\N	EFO	6	EFO	material property	Testicular Non-Seminomatous Germ Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000570	"A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." []	5059483	\N	\N	EFO	7	EFO	experimental factor	Testicular Non-Seminomatous Germ Cell Tumor
EFO:1000571	\N	\N	"A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma." []	EFO:1000571	"A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma." []	70166	\N	\N	EFO	0	EFO	Testicular Sclerosing Sertoli Cell Tumor	Testicular Sclerosing Sertoli Cell Tumor
EFO:0000512	EFO:1000571	\N	"any diease of the reproductive system" []	EFO:1000571	"A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma." []	212591	\N	\N	EFO	1	EFO	reproductive system disease	Testicular Sclerosing Sertoli Cell Tumor
EFO:0004281	EFO:1000571	\N	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	EFO:1000571	"A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma." []	212592	\N	\N	EFO	1	EFO	testicular neoplasm	Testicular Sclerosing Sertoli Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000571	"A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma." []	566270	\N	\N	EFO	2	EFO	disease	Testicular Sclerosing Sertoli Cell Tumor
EFO:0003863	EFO:0004281	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000571	"A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma." []	566271	\N	\N	EFO	2	EFO	urogenital neoplasm	Testicular Sclerosing Sertoli Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000571	"A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma." []	3180694	\N	\N	EFO	5	EFO	disposition	Testicular Sclerosing Sertoli Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000571	"A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma." []	1147640	\N	\N	EFO	3	EFO	neoplasm	Testicular Sclerosing Sertoli Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000571	"A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma." []	4066794	\N	\N	EFO	6	EFO	material property	Testicular Sclerosing Sertoli Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000571	"A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma." []	2029939	\N	\N	EFO	4	EFO	disease	Testicular Sclerosing Sertoli Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000571	"A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma." []	5059484	\N	\N	EFO	7	EFO	experimental factor	Testicular Sclerosing Sertoli Cell Tumor
EFO:1000572	\N	\N	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." []	EFO:1000572	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." []	70167	\N	\N	EFO	0	EFO	Testicular Sertoli Cell Tumor	Testicular Sertoli Cell Tumor
EFO:0000512	EFO:1000572	\N	"any diease of the reproductive system" []	EFO:1000572	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." []	212593	\N	\N	EFO	1	EFO	reproductive system disease	Testicular Sertoli Cell Tumor
EFO:0004281	EFO:1000572	\N	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	EFO:1000572	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." []	212594	\N	\N	EFO	1	EFO	testicular neoplasm	Testicular Sertoli Cell Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000572	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." []	566272	\N	\N	EFO	2	EFO	disease	Testicular Sertoli Cell Tumor
EFO:0003863	EFO:0004281	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000572	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." []	566273	\N	\N	EFO	2	EFO	urogenital neoplasm	Testicular Sertoli Cell Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000572	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." []	3180696	\N	\N	EFO	5	EFO	disposition	Testicular Sertoli Cell Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000572	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." []	1147642	\N	\N	EFO	3	EFO	neoplasm	Testicular Sertoli Cell Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000572	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." []	4066795	\N	\N	EFO	6	EFO	material property	Testicular Sertoli Cell Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000572	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." []	2029941	\N	\N	EFO	4	EFO	disease	Testicular Sertoli Cell Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000572	"A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." []	5059485	\N	\N	EFO	7	EFO	experimental factor	Testicular Sertoli Cell Tumor
EFO:1000573	\N	\N	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	EFO:1000573	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	70168	\N	\N	EFO	0	EFO	Testicular Teratoma	Testicular Teratoma
EFO:0000512	EFO:1000573	\N	"any diease of the reproductive system" []	EFO:1000573	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	212595	\N	\N	EFO	1	EFO	reproductive system disease	Testicular Teratoma
EFO:0000514	EFO:1000573	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000573	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	212596	\N	\N	EFO	1	EFO	germ cell tumor	Testicular Teratoma
EFO:0004281	EFO:1000573	\N	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	EFO:1000573	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	212597	\N	\N	EFO	1	EFO	testicular neoplasm	Testicular Teratoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000573	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	566274	\N	\N	EFO	2	EFO	disease	Testicular Teratoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000573	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	566275	\N	\N	EFO	2	EFO	neoplasm	Testicular Teratoma
EFO:0003863	EFO:0004281	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000573	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	566276	\N	\N	EFO	2	EFO	urogenital neoplasm	Testicular Teratoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000573	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	3000040	\N	\N	EFO	5	EFO	disposition	Testicular Teratoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000573	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	2029944	\N	\N	EFO	4	EFO	disease	Testicular Teratoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000573	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	1147645	\N	\N	EFO	3	EFO	neoplasm	Testicular Teratoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000573	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	4066796	\N	\N	EFO	6	EFO	material property	Testicular Teratoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000573	"A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." []	5059486	\N	\N	EFO	7	EFO	experimental factor	Testicular Teratoma
EFO:1000574	\N	\N	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	EFO:1000574	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	70169	\N	\N	EFO	0	EFO	Testicular Yolk Sac Tumor	Testicular Yolk Sac Tumor
EFO:0000512	EFO:1000574	\N	"any diease of the reproductive system" []	EFO:1000574	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	212598	\N	\N	EFO	1	EFO	reproductive system disease	Testicular Yolk Sac Tumor
EFO:0000514	EFO:1000574	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1000574	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	212599	\N	\N	EFO	1	EFO	germ cell tumor	Testicular Yolk Sac Tumor
EFO:0004281	EFO:1000574	\N	"Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms." []	EFO:1000574	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	212600	\N	\N	EFO	1	EFO	testicular neoplasm	Testicular Yolk Sac Tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000574	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	566277	\N	\N	EFO	2	EFO	disease	Testicular Yolk Sac Tumor
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000574	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	566278	\N	\N	EFO	2	EFO	neoplasm	Testicular Yolk Sac Tumor
EFO:0003863	EFO:0004281	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000574	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	566279	\N	\N	EFO	2	EFO	urogenital neoplasm	Testicular Yolk Sac Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000574	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	3000042	\N	\N	EFO	5	EFO	disposition	Testicular Yolk Sac Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000574	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	2029947	\N	\N	EFO	4	EFO	disease	Testicular Yolk Sac Tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000574	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	1147648	\N	\N	EFO	3	EFO	neoplasm	Testicular Yolk Sac Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000574	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	4066797	\N	\N	EFO	6	EFO	material property	Testicular Yolk Sac Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000574	"A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." []	5059487	\N	\N	EFO	7	EFO	experimental factor	Testicular Yolk Sac Tumor
EFO:1000575	\N	\N	"Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." []	EFO:1000575	"Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." []	70170	\N	\N	EFO	0	EFO	Therapy-Related Myeloid Neoplasm	Therapy-Related Myeloid Neoplasm
EFO:0002427	EFO:1000575	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1000575	"Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." []	212601	\N	\N	EFO	1	EFO	myeloid neoplasm	Therapy-Related Myeloid Neoplasm
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000575	"Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." []	566280	\N	\N	EFO	2	EFO	lymphoid neoplasm	Therapy-Related Myeloid Neoplasm
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000575	"Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." []	1147649	\N	\N	EFO	3	EFO	cancer	Therapy-Related Myeloid Neoplasm
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000575	"Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." []	1147650	\N	\N	EFO	3	EFO	hematological system disease	Therapy-Related Myeloid Neoplasm
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000575	"Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." []	2029948	\N	\N	EFO	4	EFO	neoplasm	Therapy-Related Myeloid Neoplasm
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000575	"Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." []	2029949	\N	\N	EFO	4	EFO	disease	Therapy-Related Myeloid Neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000575	"Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." []	3180699	\N	\N	EFO	5	EFO	disease	Therapy-Related Myeloid Neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000575	"Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." []	4389347	\N	\N	EFO	6	EFO	disposition	Therapy-Related Myeloid Neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000575	"Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." []	5181281	\N	\N	EFO	7	EFO	material property	Therapy-Related Myeloid Neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000575	"Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." []	5996724	\N	\N	EFO	8	EFO	experimental factor	Therapy-Related Myeloid Neoplasm
EFO:1000576	\N	\N	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	70171	\N	\N	EFO	0	EFO	Thymic Carcinoma	Thymic Carcinoma
EFO:0000313	EFO:1000576	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	212602	\N	\N	EFO	1	EFO	carcinoma	Thymic Carcinoma
EFO:0002626	EFO:1000576	\N	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	212603	\N	\N	EFO	1	EFO	thymus neoplasm	Thymic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	566281	\N	\N	EFO	2	EFO	cancer	Thymic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	566282	\N	\N	EFO	2	EFO	epithelial neoplasm	Thymic Carcinoma
EFO:0003769	EFO:0002626	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	566283	\N	\N	EFO	2	EFO	endocrine neoplasm	Thymic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	1147651	\N	\N	EFO	3	EFO	neoplasm	Thymic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	1147652	\N	\N	EFO	3	EFO	neoplasm	Thymic Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	1147653	\N	\N	EFO	3	EFO	neoplasm	Thymic Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	1147654	\N	\N	EFO	3	EFO	endocrine system disease	Thymic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	2029950	\N	\N	EFO	4	EFO	disease	Thymic Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	2029951	\N	\N	EFO	4	EFO	disease	Thymic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	3180701	\N	\N	EFO	5	EFO	disposition	Thymic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	4389349	\N	\N	EFO	6	EFO	material property	Thymic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000576	"A diverse group of carcinomas of the thymus gland, previously known as thymoma type C (WHO-1999). It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." []	5409251	\N	\N	EFO	7	EFO	experimental factor	Thymic Carcinoma
EFO:1000577	\N	\N	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	70172	\N	\N	EFO	0	EFO	Thymic Sarcomatoid Carcinoma	Thymic Sarcomatoid Carcinoma
EFO:0000313	EFO:1000577	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	212604	\N	\N	EFO	1	EFO	carcinoma	Thymic Sarcomatoid Carcinoma
EFO:0002626	EFO:1000577	\N	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	212605	\N	\N	EFO	1	EFO	thymus neoplasm	Thymic Sarcomatoid Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	566284	\N	\N	EFO	2	EFO	cancer	Thymic Sarcomatoid Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	566285	\N	\N	EFO	2	EFO	epithelial neoplasm	Thymic Sarcomatoid Carcinoma
EFO:0003769	EFO:0002626	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	566286	\N	\N	EFO	2	EFO	endocrine neoplasm	Thymic Sarcomatoid Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	1147655	\N	\N	EFO	3	EFO	neoplasm	Thymic Sarcomatoid Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	1147656	\N	\N	EFO	3	EFO	neoplasm	Thymic Sarcomatoid Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	1147657	\N	\N	EFO	3	EFO	neoplasm	Thymic Sarcomatoid Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	1147658	\N	\N	EFO	3	EFO	endocrine system disease	Thymic Sarcomatoid Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	2029952	\N	\N	EFO	4	EFO	disease	Thymic Sarcomatoid Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	2029953	\N	\N	EFO	4	EFO	disease	Thymic Sarcomatoid Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	3180702	\N	\N	EFO	5	EFO	disposition	Thymic Sarcomatoid Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	4389350	\N	\N	EFO	6	EFO	material property	Thymic Sarcomatoid Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000577	"A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." []	5409252	\N	\N	EFO	7	EFO	experimental factor	Thymic Sarcomatoid Carcinoma
EFO:1000578	\N	\N	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	70173	\N	\N	EFO	0	EFO	Thymic Small Cell Carcinoma	Thymic Small Cell Carcinoma
EFO:0000313	EFO:1000578	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	212606	\N	\N	EFO	1	EFO	carcinoma	Thymic Small Cell Carcinoma
EFO:0002626	EFO:1000578	\N	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	212607	\N	\N	EFO	1	EFO	thymus neoplasm	Thymic Small Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	566287	\N	\N	EFO	2	EFO	cancer	Thymic Small Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	566288	\N	\N	EFO	2	EFO	epithelial neoplasm	Thymic Small Cell Carcinoma
EFO:0003769	EFO:0002626	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	566289	\N	\N	EFO	2	EFO	endocrine neoplasm	Thymic Small Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	1147659	\N	\N	EFO	3	EFO	neoplasm	Thymic Small Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	1147660	\N	\N	EFO	3	EFO	neoplasm	Thymic Small Cell Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	1147661	\N	\N	EFO	3	EFO	neoplasm	Thymic Small Cell Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	1147662	\N	\N	EFO	3	EFO	endocrine system disease	Thymic Small Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	2029954	\N	\N	EFO	4	EFO	disease	Thymic Small Cell Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	2029955	\N	\N	EFO	4	EFO	disease	Thymic Small Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	3180703	\N	\N	EFO	5	EFO	disposition	Thymic Small Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	4389351	\N	\N	EFO	6	EFO	material property	Thymic Small Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000578	"An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." []	5409253	\N	\N	EFO	7	EFO	experimental factor	Thymic Small Cell Carcinoma
EFO:1000579	\N	\N	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	70174	\N	\N	EFO	0	EFO	Thymic Squamous Cell Carcinoma	Thymic Squamous Cell Carcinoma
EFO:0000707	EFO:1000579	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	212608	\N	\N	EFO	1	EFO	squamous cell carcinoma	Thymic Squamous Cell Carcinoma
EFO:0002626	EFO:1000579	\N	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	212609	\N	\N	EFO	1	EFO	thymus neoplasm	Thymic Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	566290	\N	\N	EFO	2	EFO	carcinoma	Thymic Squamous Cell Carcinoma
EFO:0003769	EFO:0002626	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	566291	\N	\N	EFO	2	EFO	endocrine neoplasm	Thymic Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	1147663	\N	\N	EFO	3	EFO	cancer	Thymic Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	1147664	\N	\N	EFO	3	EFO	epithelial neoplasm	Thymic Squamous Cell Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	1147665	\N	\N	EFO	3	EFO	neoplasm	Thymic Squamous Cell Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	1147666	\N	\N	EFO	3	EFO	endocrine system disease	Thymic Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	2029956	\N	\N	EFO	4	EFO	neoplasm	Thymic Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	2029957	\N	\N	EFO	4	EFO	neoplasm	Thymic Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	3180704	\N	\N	EFO	5	EFO	disease	Thymic Squamous Cell Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	2029959	\N	\N	EFO	4	EFO	disease	Thymic Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	4133030	\N	\N	EFO	6	EFO	disposition	Thymic Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	5181282	\N	\N	EFO	7	EFO	material property	Thymic Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000579	"A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." []	5996725	\N	\N	EFO	8	EFO	experimental factor	Thymic Squamous Cell Carcinoma
EFO:1000580	\N	\N	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	70175	\N	\N	EFO	0	EFO	Thymic Undifferentiated Carcinoma	Thymic Undifferentiated Carcinoma
EFO:0002626	EFO:1000580	\N	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	212610	\N	\N	EFO	1	EFO	thymus neoplasm	Thymic Undifferentiated Carcinoma
EFO:0006772	EFO:1000580	\N	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	212611	\N	\N	EFO	1	EFO	undifferentiated carcinoma	Thymic Undifferentiated Carcinoma
EFO:0003769	EFO:0002626	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	566292	\N	\N	EFO	2	EFO	endocrine neoplasm	Thymic Undifferentiated Carcinoma
EFO:0000313	EFO:0006772	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	566293	\N	\N	EFO	2	EFO	carcinoma	Thymic Undifferentiated Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	1147667	\N	\N	EFO	3	EFO	neoplasm	Thymic Undifferentiated Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	1147668	\N	\N	EFO	3	EFO	endocrine system disease	Thymic Undifferentiated Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	1147669	\N	\N	EFO	3	EFO	cancer	Thymic Undifferentiated Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	1147670	\N	\N	EFO	3	EFO	epithelial neoplasm	Thymic Undifferentiated Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	3180707	\N	\N	EFO	5	EFO	disease	Thymic Undifferentiated Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	2029961	\N	\N	EFO	4	EFO	disease	Thymic Undifferentiated Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	2029962	\N	\N	EFO	4	EFO	neoplasm	Thymic Undifferentiated Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	2029963	\N	\N	EFO	4	EFO	neoplasm	Thymic Undifferentiated Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	4133031	\N	\N	EFO	6	EFO	disposition	Thymic Undifferentiated Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	5181283	\N	\N	EFO	7	EFO	material property	Thymic Undifferentiated Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000580	"A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." []	5996726	\N	\N	EFO	8	EFO	experimental factor	Thymic Undifferentiated Carcinoma
EFO:1000581	\N	\N	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	EFO:1000581	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	70176	\N	\N	EFO	0	EFO	Thymoma	Thymoma
EFO:0002626	EFO:1000581	\N	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	EFO:1000581	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	212612	\N	\N	EFO	1	EFO	thymus neoplasm	Thymoma
EFO:0003769	EFO:0002626	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000581	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	566294	\N	\N	EFO	2	EFO	endocrine neoplasm	Thymoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000581	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	1147671	\N	\N	EFO	3	EFO	neoplasm	Thymoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000581	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	1147672	\N	\N	EFO	3	EFO	endocrine system disease	Thymoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000581	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	2029964	\N	\N	EFO	4	EFO	disease	Thymoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000581	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	2029965	\N	\N	EFO	4	EFO	disease	Thymoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000581	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	3180708	\N	\N	EFO	5	EFO	disposition	Thymoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000581	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	4389354	\N	\N	EFO	6	EFO	material property	Thymoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000581	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	5409256	\N	\N	EFO	7	EFO	experimental factor	Thymoma
EFO:1000582	\N	\N	"A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." []	EFO:1000582	"A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." []	70177	\N	\N	EFO	0	EFO	Thymoma Type AB	Thymoma Type AB
EFO:1000581	EFO:1000582	\N	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	EFO:1000582	"A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." []	212613	\N	\N	EFO	1	EFO	Thymoma	Thymoma Type AB
EFO:0002626	EFO:1000581	\N	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	EFO:1000582	"A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." []	566295	\N	\N	EFO	2	EFO	thymus neoplasm	Thymoma Type AB
EFO:0003769	EFO:0002626	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000582	"A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." []	1147673	\N	\N	EFO	3	EFO	endocrine neoplasm	Thymoma Type AB
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000582	"A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." []	2029966	\N	\N	EFO	4	EFO	neoplasm	Thymoma Type AB
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000582	"A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." []	2029967	\N	\N	EFO	4	EFO	endocrine system disease	Thymoma Type AB
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000582	"A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." []	3180709	\N	\N	EFO	5	EFO	disease	Thymoma Type AB
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000582	"A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." []	3180710	\N	\N	EFO	5	EFO	disease	Thymoma Type AB
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000582	"A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." []	4389355	\N	\N	EFO	6	EFO	disposition	Thymoma Type AB
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000582	"A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." []	5409257	\N	\N	EFO	7	EFO	material property	Thymoma Type AB
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000582	"A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." []	6147606	\N	\N	EFO	8	EFO	experimental factor	Thymoma Type AB
EFO:1000583	\N	\N	"Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." []	EFO:1000583	"Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." []	70178	\N	\N	EFO	0	EFO	Thymoma Type B3	Thymoma Type B3
EFO:1000581	EFO:1000583	\N	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	EFO:1000583	"Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." []	212614	\N	\N	EFO	1	EFO	Thymoma	Thymoma Type B3
EFO:0002626	EFO:1000581	\N	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	EFO:1000583	"Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." []	566296	\N	\N	EFO	2	EFO	thymus neoplasm	Thymoma Type B3
EFO:0003769	EFO:0002626	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000583	"Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." []	1147674	\N	\N	EFO	3	EFO	endocrine neoplasm	Thymoma Type B3
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000583	"Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." []	2029968	\N	\N	EFO	4	EFO	neoplasm	Thymoma Type B3
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000583	"Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." []	2029969	\N	\N	EFO	4	EFO	endocrine system disease	Thymoma Type B3
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000583	"Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." []	3180711	\N	\N	EFO	5	EFO	disease	Thymoma Type B3
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000583	"Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." []	3180712	\N	\N	EFO	5	EFO	disease	Thymoma Type B3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000583	"Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." []	4389356	\N	\N	EFO	6	EFO	disposition	Thymoma Type B3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000583	"Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." []	5409258	\N	\N	EFO	7	EFO	material property	Thymoma Type B3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000583	"Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." []	6147607	\N	\N	EFO	8	EFO	experimental factor	Thymoma Type B3
EFO:1000584	\N	\N	"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." []	EFO:1000584	"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." []	70179	\N	\N	EFO	0	EFO	Thymoma Type B1	Thymoma Type B1
EFO:1000581	EFO:1000584	\N	"A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." []	EFO:1000584	"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." []	212615	\N	\N	EFO	1	EFO	Thymoma	Thymoma Type B1
EFO:0002626	EFO:1000581	\N	"A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." []	EFO:1000584	"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." []	566297	\N	\N	EFO	2	EFO	thymus neoplasm	Thymoma Type B1
EFO:0003769	EFO:0002626	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000584	"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." []	1147675	\N	\N	EFO	3	EFO	endocrine neoplasm	Thymoma Type B1
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000584	"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." []	2029970	\N	\N	EFO	4	EFO	neoplasm	Thymoma Type B1
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000584	"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." []	2029971	\N	\N	EFO	4	EFO	endocrine system disease	Thymoma Type B1
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000584	"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." []	3180713	\N	\N	EFO	5	EFO	disease	Thymoma Type B1
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000584	"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." []	3180714	\N	\N	EFO	5	EFO	disease	Thymoma Type B1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000584	"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." []	4389357	\N	\N	EFO	6	EFO	disposition	Thymoma Type B1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000584	"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." []	5409259	\N	\N	EFO	7	EFO	material property	Thymoma Type B1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000584	"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." []	6147608	\N	\N	EFO	8	EFO	experimental factor	Thymoma Type B1
EFO:1000585	\N	\N	"A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." []	EFO:1000585	"A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." []	70180	\N	\N	EFO	0	EFO	Thyroglossal Duct Cyst	Thyroglossal Duct Cyst
EFO:0000616	EFO:1000585	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000585	"A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." []	212616	\N	\N	EFO	1	EFO	neoplasm	Thyroglossal Duct Cyst
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000585	"A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." []	566298	\N	\N	EFO	2	EFO	disease	Thyroglossal Duct Cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000585	"A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." []	1147676	\N	\N	EFO	3	EFO	disposition	Thyroglossal Duct Cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000585	"A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." []	2029972	\N	\N	EFO	4	EFO	material property	Thyroglossal Duct Cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000585	"A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." []	3180715	\N	\N	EFO	5	EFO	experimental factor	Thyroglossal Duct Cyst
EFO:1000587	\N	\N	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	70181	\N	\N	EFO	0	EFO	Thyroid Gland Diffuse Large B-Cell Lymphoma	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0000574	EFO:1000587	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	212617	\N	\N	EFO	1	EFO	lymphoma	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0003841	EFO:1000587	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	212618	\N	\N	EFO	1	EFO	thyroid neoplasm	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	566299	\N	\N	EFO	2	EFO	lymphoid neoplasm	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	566300	\N	\N	EFO	2	EFO	endocrine neoplasm	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	566301	\N	\N	EFO	2	EFO	thyroid disease	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	1147677	\N	\N	EFO	3	EFO	cancer	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	1147678	\N	\N	EFO	3	EFO	hematological system disease	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	1147679	\N	\N	EFO	3	EFO	neoplasm	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	1147680	\N	\N	EFO	3	EFO	endocrine system disease	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	1147681	\N	\N	EFO	3	EFO	endocrine system disease	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	2029973	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	2029974	\N	\N	EFO	4	EFO	disease	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	3180716	\N	\N	EFO	5	EFO	disease	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	2029976	\N	\N	EFO	4	EFO	disease	Thyroid Gland Diffuse Large B-Cell Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	4133032	\N	\N	EFO	6	EFO	disposition	Thyroid Gland Diffuse Large B-Cell Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	5181284	\N	\N	EFO	7	EFO	material property	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000587	"A diffuse large B-cell lymphoma primarily involving the thyroid gland." []	5996727	\N	\N	EFO	8	EFO	experimental factor	Thyroid Gland Diffuse Large B-Cell Lymphoma
EFO:1000588	\N	\N	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	EFO:1000588	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	70182	\N	\N	EFO	0	EFO	Thyroid Gland Hyalinizing Trabecular Tumor	Thyroid Gland Hyalinizing Trabecular Tumor
EFO:0003841	EFO:1000588	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1000588	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	212619	\N	\N	EFO	1	EFO	thyroid neoplasm	Thyroid Gland Hyalinizing Trabecular Tumor
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000588	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	566302	\N	\N	EFO	2	EFO	endocrine neoplasm	Thyroid Gland Hyalinizing Trabecular Tumor
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000588	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	566303	\N	\N	EFO	2	EFO	thyroid disease	Thyroid Gland Hyalinizing Trabecular Tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000588	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	1147682	\N	\N	EFO	3	EFO	neoplasm	Thyroid Gland Hyalinizing Trabecular Tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000588	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	1147683	\N	\N	EFO	3	EFO	endocrine system disease	Thyroid Gland Hyalinizing Trabecular Tumor
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000588	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	1147684	\N	\N	EFO	3	EFO	endocrine system disease	Thyroid Gland Hyalinizing Trabecular Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000588	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	2029977	\N	\N	EFO	4	EFO	disease	Thyroid Gland Hyalinizing Trabecular Tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000588	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	2029978	\N	\N	EFO	4	EFO	disease	Thyroid Gland Hyalinizing Trabecular Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000588	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	3180718	\N	\N	EFO	5	EFO	disposition	Thyroid Gland Hyalinizing Trabecular Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000588	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	4389359	\N	\N	EFO	6	EFO	material property	Thyroid Gland Hyalinizing Trabecular Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000588	"A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." []	5409261	\N	\N	EFO	7	EFO	experimental factor	Thyroid Gland Hyalinizing Trabecular Tumor
EFO:1000589	\N	\N	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	EFO:1000589	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	70183	\N	\N	EFO	0	EFO	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
EFO:0003841	EFO:1000589	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1000589	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	212620	\N	\N	EFO	1	EFO	thyroid neoplasm	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000589	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	566304	\N	\N	EFO	2	EFO	endocrine neoplasm	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000589	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	566305	\N	\N	EFO	2	EFO	thyroid disease	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000589	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	1147685	\N	\N	EFO	3	EFO	neoplasm	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000589	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	1147686	\N	\N	EFO	3	EFO	endocrine system disease	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000589	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	1147687	\N	\N	EFO	3	EFO	endocrine system disease	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000589	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	2029979	\N	\N	EFO	4	EFO	disease	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000589	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	2029980	\N	\N	EFO	4	EFO	disease	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000589	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	3180719	\N	\N	EFO	5	EFO	disposition	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000589	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	4389360	\N	\N	EFO	6	EFO	material property	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000589	"A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell carcinoma structures that are immunohistochemically positive for thyroglobulin." []	5409262	\N	\N	EFO	7	EFO	experimental factor	Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
EFO:1000590	\N	\N	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	70184	\N	\N	EFO	0	EFO	Thyroid Gland Mucoepidermoid Carcinoma	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0002892	EFO:1000590	\N	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	212621	\N	\N	EFO	1	EFO	thyroid carcinoma	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0000313	EFO:0002892	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	566306	\N	\N	EFO	2	EFO	carcinoma	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0003841	EFO:0002892	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	566307	\N	\N	EFO	2	EFO	thyroid neoplasm	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	1147688	\N	\N	EFO	3	EFO	cancer	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	1147689	\N	\N	EFO	3	EFO	epithelial neoplasm	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	1147690	\N	\N	EFO	3	EFO	endocrine neoplasm	Thyroid Gland Mucoepidermoid Carcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	1147691	\N	\N	EFO	3	EFO	thyroid disease	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	2029981	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	2029982	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	2029983	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	2029984	\N	\N	EFO	4	EFO	endocrine system disease	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	2029985	\N	\N	EFO	4	EFO	endocrine system disease	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	3180720	\N	\N	EFO	5	EFO	disease	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	3180721	\N	\N	EFO	5	EFO	disease	Thyroid Gland Mucoepidermoid Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	4389361	\N	\N	EFO	6	EFO	disposition	Thyroid Gland Mucoepidermoid Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	5409263	\N	\N	EFO	7	EFO	material property	Thyroid Gland Mucoepidermoid Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000590	"A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." []	6147609	\N	\N	EFO	8	EFO	experimental factor	Thyroid Gland Mucoepidermoid Carcinoma
EFO:1000591	\N	\N	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	70185	\N	\N	EFO	0	EFO	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000574	EFO:1000591	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	212622	\N	\N	EFO	1	EFO	lymphoma	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0003841	EFO:1000591	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	212623	\N	\N	EFO	1	EFO	thyroid neoplasm	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	566308	\N	\N	EFO	2	EFO	lymphoid neoplasm	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	566309	\N	\N	EFO	2	EFO	endocrine neoplasm	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	566310	\N	\N	EFO	2	EFO	thyroid disease	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	1147692	\N	\N	EFO	3	EFO	cancer	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	1147693	\N	\N	EFO	3	EFO	hematological system disease	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	1147694	\N	\N	EFO	3	EFO	neoplasm	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	1147695	\N	\N	EFO	3	EFO	endocrine system disease	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	1147696	\N	\N	EFO	3	EFO	endocrine system disease	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	2029986	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	2029987	\N	\N	EFO	4	EFO	disease	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	3180722	\N	\N	EFO	5	EFO	disease	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	2029989	\N	\N	EFO	4	EFO	disease	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	4133033	\N	\N	EFO	6	EFO	disposition	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	5181285	\N	\N	EFO	7	EFO	material property	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000591	"An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." []	5996728	\N	\N	EFO	8	EFO	experimental factor	Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
EFO:1000592	\N	\N	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	70186	\N	\N	EFO	0	EFO	Thyroid Gland Oncocytic Follicular Carcinoma	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0000228	EFO:1000592	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	212624	\N	\N	EFO	1	EFO	adenocarcinoma	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0002892	EFO:1000592	\N	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	212625	\N	\N	EFO	1	EFO	thyroid carcinoma	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	566311	\N	\N	EFO	2	EFO	carcinoma	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0000313	EFO:0002892	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	566312	\N	\N	EFO	2	EFO	carcinoma	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0003841	EFO:0002892	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	566313	\N	\N	EFO	2	EFO	thyroid neoplasm	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	1147697	\N	\N	EFO	3	EFO	cancer	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	1147698	\N	\N	EFO	3	EFO	epithelial neoplasm	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	1147699	\N	\N	EFO	3	EFO	endocrine neoplasm	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	1147700	\N	\N	EFO	3	EFO	thyroid disease	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	2029990	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	2029991	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	2029992	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	2029993	\N	\N	EFO	4	EFO	endocrine system disease	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	2029994	\N	\N	EFO	4	EFO	endocrine system disease	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	3180724	\N	\N	EFO	5	EFO	disease	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	3180725	\N	\N	EFO	5	EFO	disease	Thyroid Gland Oncocytic Follicular Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	4389363	\N	\N	EFO	6	EFO	disposition	Thyroid Gland Oncocytic Follicular Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	5409265	\N	\N	EFO	7	EFO	material property	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000592	"A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." []	6147610	\N	\N	EFO	8	EFO	experimental factor	Thyroid Gland Oncocytic Follicular Carcinoma
EFO:1000593	\N	\N	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	70187	\N	\N	EFO	0	EFO	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:0000705	EFO:1000593	\N	"A sarcoma that is composed of spindle cells with a rich vascular network." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	212626	\N	\N	EFO	1	EFO	spindle cell tumor	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:0003841	EFO:1000593	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	212627	\N	\N	EFO	1	EFO	thyroid neoplasm	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:0000691	EFO:0000705	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	566314	\N	\N	EFO	2	EFO	sarcoma	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	566315	\N	\N	EFO	2	EFO	endocrine neoplasm	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	566316	\N	\N	EFO	2	EFO	thyroid disease	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	1147701	\N	\N	EFO	3	EFO	cancer	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	1147702	\N	\N	EFO	3	EFO	neoplasm	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	1147703	\N	\N	EFO	3	EFO	endocrine system disease	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	1147704	\N	\N	EFO	3	EFO	endocrine system disease	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	2029995	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	3180726	\N	\N	EFO	5	EFO	disease	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	2029997	\N	\N	EFO	4	EFO	disease	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	4133034	\N	\N	EFO	6	EFO	disposition	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	5181286	\N	\N	EFO	7	EFO	material property	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000593	"A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." []	5996729	\N	\N	EFO	8	EFO	experimental factor	Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
EFO:1000594	\N	\N	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	70188	\N	\N	EFO	0	EFO	Thyroid Gland Squamous Cell Carcinoma	Thyroid Gland Squamous Cell Carcinoma
EFO:0000707	EFO:1000594	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	212628	\N	\N	EFO	1	EFO	squamous cell carcinoma	Thyroid Gland Squamous Cell Carcinoma
EFO:0002892	EFO:1000594	\N	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	212629	\N	\N	EFO	1	EFO	thyroid carcinoma	Thyroid Gland Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	566317	\N	\N	EFO	2	EFO	carcinoma	Thyroid Gland Squamous Cell Carcinoma
EFO:0000313	EFO:0002892	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	566318	\N	\N	EFO	2	EFO	carcinoma	Thyroid Gland Squamous Cell Carcinoma
EFO:0003841	EFO:0002892	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	566319	\N	\N	EFO	2	EFO	thyroid neoplasm	Thyroid Gland Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	1147705	\N	\N	EFO	3	EFO	cancer	Thyroid Gland Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	1147706	\N	\N	EFO	3	EFO	epithelial neoplasm	Thyroid Gland Squamous Cell Carcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	1147707	\N	\N	EFO	3	EFO	endocrine neoplasm	Thyroid Gland Squamous Cell Carcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	1147708	\N	\N	EFO	3	EFO	thyroid disease	Thyroid Gland Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	2029998	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	2029999	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Squamous Cell Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	2030000	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Squamous Cell Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	2030001	\N	\N	EFO	4	EFO	endocrine system disease	Thyroid Gland Squamous Cell Carcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	2030002	\N	\N	EFO	4	EFO	endocrine system disease	Thyroid Gland Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	3180728	\N	\N	EFO	5	EFO	disease	Thyroid Gland Squamous Cell Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	3180729	\N	\N	EFO	5	EFO	disease	Thyroid Gland Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	4389365	\N	\N	EFO	6	EFO	disposition	Thyroid Gland Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	5409267	\N	\N	EFO	7	EFO	material property	Thyroid Gland Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000594	"A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." []	6147611	\N	\N	EFO	8	EFO	experimental factor	Thyroid Gland Squamous Cell Carcinoma
EFO:1000595	\N	\N	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	70189	\N	\N	EFO	0	EFO	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0002892	EFO:1000595	\N	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	212630	\N	\N	EFO	1	EFO	thyroid carcinoma	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0006772	EFO:1000595	\N	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	212631	\N	\N	EFO	1	EFO	undifferentiated carcinoma	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0000313	EFO:0002892	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	566320	\N	\N	EFO	2	EFO	carcinoma	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0003841	EFO:0002892	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	566321	\N	\N	EFO	2	EFO	thyroid neoplasm	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0000313	EFO:0006772	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	566322	\N	\N	EFO	2	EFO	carcinoma	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	1147709	\N	\N	EFO	3	EFO	cancer	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	1147710	\N	\N	EFO	3	EFO	epithelial neoplasm	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	1147711	\N	\N	EFO	3	EFO	endocrine neoplasm	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	1147712	\N	\N	EFO	3	EFO	thyroid disease	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	2030003	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	2030004	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	2030005	\N	\N	EFO	4	EFO	neoplasm	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	2030006	\N	\N	EFO	4	EFO	endocrine system disease	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	2030007	\N	\N	EFO	4	EFO	endocrine system disease	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	3180730	\N	\N	EFO	5	EFO	disease	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	3180731	\N	\N	EFO	5	EFO	disease	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	4389366	\N	\N	EFO	6	EFO	disposition	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	5409268	\N	\N	EFO	7	EFO	material property	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000595	"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." []	6147612	\N	\N	EFO	8	EFO	experimental factor	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
EFO:1000596	\N	\N	"An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." []	EFO:1000596	"An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." []	70190	\N	\N	EFO	0	EFO	Tibial Adamantinoma	Tibial Adamantinoma
EFO:0000616	EFO:1000596	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000596	"An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." []	212632	\N	\N	EFO	1	EFO	neoplasm	Tibial Adamantinoma
EFO:0002461	EFO:1000596	\N	"Any disease which affects part of the skeletal system." []	EFO:1000596	"An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." []	212633	\N	\N	EFO	1	EFO	skeletal system disease	Tibial Adamantinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000596	"An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." []	566323	\N	\N	EFO	2	EFO	disease	Tibial Adamantinoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000596	"An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." []	566324	\N	\N	EFO	2	EFO	disease	Tibial Adamantinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000596	"An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." []	1147713	\N	\N	EFO	3	EFO	disposition	Tibial Adamantinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000596	"An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." []	2030008	\N	\N	EFO	4	EFO	material property	Tibial Adamantinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000596	"An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." []	3180732	\N	\N	EFO	5	EFO	experimental factor	Tibial Adamantinoma
EFO:1000597	\N	\N	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	70191	\N	\N	EFO	0	EFO	Tonsillar Squamous Cell Carcinoma	Tonsillar Squamous Cell Carcinoma
EFO:0000181	EFO:1000597	\N	"A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	212634	\N	\N	EFO	1	EFO	head and neck squamous cell carcinoma	Tonsillar Squamous Cell Carcinoma
EFO:0000707	EFO:0000181	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	566325	\N	\N	EFO	2	EFO	squamous cell carcinoma	Tonsillar Squamous Cell Carcinoma
EFO:0005950	EFO:0000181	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	566326	\N	\N	EFO	2	EFO	head and neck neoplasia	Tonsillar Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	1147714	\N	\N	EFO	3	EFO	carcinoma	Tonsillar Squamous Cell Carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	1147715	\N	\N	EFO	3	EFO	head disease	Tonsillar Squamous Cell Carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	1147716	\N	\N	EFO	3	EFO	neoplasm	Tonsillar Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	2030009	\N	\N	EFO	4	EFO	cancer	Tonsillar Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	2030010	\N	\N	EFO	4	EFO	epithelial neoplasm	Tonsillar Squamous Cell Carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	2030011	\N	\N	EFO	4	EFO	disease	Tonsillar Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	4389367	\N	\N	EFO	6	EFO	disease	Tonsillar Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	3180733	\N	\N	EFO	5	EFO	neoplasm	Tonsillar Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	3180734	\N	\N	EFO	5	EFO	neoplasm	Tonsillar Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	5059488	\N	\N	EFO	7	EFO	disposition	Tonsillar Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	5876643	\N	\N	EFO	8	EFO	material property	Tonsillar Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000597	"A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." []	6469867	\N	\N	EFO	9	EFO	experimental factor	Tonsillar Squamous Cell Carcinoma
EFO:1000598	\N	\N	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	70192	\N	\N	EFO	0	EFO	Tracheal Adenoid Cystic Carcinoma	Tracheal Adenoid Cystic Carcinoma
EFO:0000231	EFO:1000598	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	212635	\N	\N	EFO	1	EFO	adenoid cystic carcinoma	Tracheal Adenoid Cystic Carcinoma
EFO:0003853	EFO:1000598	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	212636	\N	\N	EFO	1	EFO	respiratory system neoplasm	Tracheal Adenoid Cystic Carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	566327	\N	\N	EFO	2	EFO	carcinoma	Tracheal Adenoid Cystic Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	566328	\N	\N	EFO	2	EFO	neoplasm	Tracheal Adenoid Cystic Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	566329	\N	\N	EFO	2	EFO	respiratory system disease	Tracheal Adenoid Cystic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	1147717	\N	\N	EFO	3	EFO	cancer	Tracheal Adenoid Cystic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	1147718	\N	\N	EFO	3	EFO	epithelial neoplasm	Tracheal Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	3180736	\N	\N	EFO	5	EFO	disease	Tracheal Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	1147720	\N	\N	EFO	3	EFO	disease	Tracheal Adenoid Cystic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	2030013	\N	\N	EFO	4	EFO	neoplasm	Tracheal Adenoid Cystic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	2030014	\N	\N	EFO	4	EFO	neoplasm	Tracheal Adenoid Cystic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	4066798	\N	\N	EFO	6	EFO	disposition	Tracheal Adenoid Cystic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	5059489	\N	\N	EFO	7	EFO	material property	Tracheal Adenoid Cystic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000598	"An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." []	5876644	\N	\N	EFO	8	EFO	experimental factor	Tracheal Adenoid Cystic Carcinoma
EFO:1000599	\N	\N	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	70193	\N	\N	EFO	0	EFO	Tracheal Carcinoma	Tracheal Carcinoma
EFO:0000313	EFO:1000599	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	212637	\N	\N	EFO	1	EFO	carcinoma	Tracheal Carcinoma
EFO:0003853	EFO:1000599	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	212638	\N	\N	EFO	1	EFO	respiratory system neoplasm	Tracheal Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	566330	\N	\N	EFO	2	EFO	cancer	Tracheal Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	566331	\N	\N	EFO	2	EFO	epithelial neoplasm	Tracheal Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	566332	\N	\N	EFO	2	EFO	neoplasm	Tracheal Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	566333	\N	\N	EFO	2	EFO	respiratory system disease	Tracheal Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	1147721	\N	\N	EFO	3	EFO	neoplasm	Tracheal Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	1147722	\N	\N	EFO	3	EFO	neoplasm	Tracheal Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	2030016	\N	\N	EFO	4	EFO	disease	Tracheal Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	1147724	\N	\N	EFO	3	EFO	disease	Tracheal Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	3000043	\N	\N	EFO	5	EFO	disposition	Tracheal Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	4133035	\N	\N	EFO	6	EFO	material property	Tracheal Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000599	"Malignant epithelial neoplasm arising from the tracheal mucosa." []	5181287	\N	\N	EFO	7	EFO	experimental factor	Tracheal Carcinoma
EFO:1000600	\N	\N	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	70194	\N	\N	EFO	0	EFO	Tracheal Squamous Cell Carcinoma	Tracheal Squamous Cell Carcinoma
EFO:0000707	EFO:1000600	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	212639	\N	\N	EFO	1	EFO	squamous cell carcinoma	Tracheal Squamous Cell Carcinoma
EFO:0003853	EFO:1000600	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	212640	\N	\N	EFO	1	EFO	respiratory system neoplasm	Tracheal Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	566334	\N	\N	EFO	2	EFO	carcinoma	Tracheal Squamous Cell Carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	566335	\N	\N	EFO	2	EFO	neoplasm	Tracheal Squamous Cell Carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	566336	\N	\N	EFO	2	EFO	respiratory system disease	Tracheal Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	1147725	\N	\N	EFO	3	EFO	cancer	Tracheal Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	1147726	\N	\N	EFO	3	EFO	epithelial neoplasm	Tracheal Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	3180739	\N	\N	EFO	5	EFO	disease	Tracheal Squamous Cell Carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	1147728	\N	\N	EFO	3	EFO	disease	Tracheal Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	2030018	\N	\N	EFO	4	EFO	neoplasm	Tracheal Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	2030019	\N	\N	EFO	4	EFO	neoplasm	Tracheal Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	4066799	\N	\N	EFO	6	EFO	disposition	Tracheal Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	5059490	\N	\N	EFO	7	EFO	material property	Tracheal Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000600	"A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." []	5876645	\N	\N	EFO	8	EFO	experimental factor	Tracheal Squamous Cell Carcinoma
EFO:1000601	\N	\N	"A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." []	EFO:1000601	"A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." []	70195	\N	\N	EFO	0	EFO	Transitional Cell Carcinoma	Transitional Cell Carcinoma
EFO:0000313	EFO:1000601	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000601	"A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." []	212641	\N	\N	EFO	1	EFO	carcinoma	Transitional Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000601	"A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." []	566337	\N	\N	EFO	2	EFO	cancer	Transitional Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000601	"A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." []	566338	\N	\N	EFO	2	EFO	epithelial neoplasm	Transitional Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000601	"A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." []	1147729	\N	\N	EFO	3	EFO	neoplasm	Transitional Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000601	"A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." []	1147730	\N	\N	EFO	3	EFO	neoplasm	Transitional Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000601	"A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." []	2030021	\N	\N	EFO	4	EFO	disease	Transitional Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000601	"A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." []	3180741	\N	\N	EFO	5	EFO	disposition	Transitional Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000601	"A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." []	4389372	\N	\N	EFO	6	EFO	material property	Transitional Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000601	"A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." []	5409270	\N	\N	EFO	7	EFO	experimental factor	Transitional Cell Carcinoma
EFO:1000602	\N	\N	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	70196	\N	\N	EFO	0	EFO	Transitional Meningioma	Transitional Meningioma
Orphanet:2495	EFO:1000602	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	212642	\N	\N	EFO	1	EFO	Meningioma	Transitional Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	566339	\N	\N	EFO	2	EFO	endocrine neoplasm	Transitional Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	566340	\N	\N	EFO	2	EFO	meningeal neoplasm	Transitional Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	1147731	\N	\N	EFO	3	EFO	neoplasm	Transitional Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	1147732	\N	\N	EFO	3	EFO	endocrine system disease	Transitional Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	1147733	\N	\N	EFO	3	EFO	brain neoplasm	Transitional Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	3180743	\N	\N	EFO	5	EFO	disease	Transitional Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	2030023	\N	\N	EFO	4	EFO	disease	Transitional Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	2030024	\N	\N	EFO	4	EFO	neoplasm	Transitional Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	2030025	\N	\N	EFO	4	EFO	brain disease	Transitional Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	5409272	\N	\N	EFO	7	EFO	disposition	Transitional Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	3180744	\N	\N	EFO	5	EFO	nervous system disease	Transitional Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	5876646	\N	\N	EFO	8	EFO	material property	Transitional Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	4389374	\N	\N	EFO	6	EFO	disease	Transitional Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000602	"A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." []	6469868	\N	\N	EFO	9	EFO	experimental factor	Transitional Meningioma
EFO:1000603	\N	\N	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	70197	\N	\N	EFO	0	EFO	Unclassified Renal Cell Carcinoma	Unclassified Renal Cell Carcinoma
EFO:0000681	EFO:1000603	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	212643	\N	\N	EFO	1	EFO	renal cell carcinoma	Unclassified Renal Cell Carcinoma
EFO:0002890	EFO:0000681	\N	"A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	566341	\N	\N	EFO	2	EFO	renal carcinoma	Unclassified Renal Cell Carcinoma
EFO:0000313	EFO:0002890	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	1147734	\N	\N	EFO	3	EFO	carcinoma	Unclassified Renal Cell Carcinoma
EFO:0003865	EFO:0002890	\N	"Tumors or cancers of the KIDNEY." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	1147735	\N	\N	EFO	3	EFO	kidney neoplasm	Unclassified Renal Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	2030026	\N	\N	EFO	4	EFO	cancer	Unclassified Renal Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	2030027	\N	\N	EFO	4	EFO	epithelial neoplasm	Unclassified Renal Cell Carcinoma
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	2030028	\N	\N	EFO	4	EFO	kidney disease	Unclassified Renal Cell Carcinoma
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	2030029	\N	\N	EFO	4	EFO	urogenital neoplasm	Unclassified Renal Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	3180745	\N	\N	EFO	5	EFO	neoplasm	Unclassified Renal Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	3180746	\N	\N	EFO	5	EFO	neoplasm	Unclassified Renal Cell Carcinoma
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	3180747	\N	\N	EFO	5	EFO	disease	Unclassified Renal Cell Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	3180748	\N	\N	EFO	5	EFO	neoplasm	Unclassified Renal Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	4389375	\N	\N	EFO	6	EFO	disease	Unclassified Renal Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	5409273	\N	\N	EFO	7	EFO	disposition	Unclassified Renal Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	5996731	\N	\N	EFO	8	EFO	material property	Unclassified Renal Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000603	"A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." []	6550408	\N	\N	EFO	9	EFO	experimental factor	Unclassified Renal Cell Carcinoma
EFO:1000604	\N	\N	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	70198	\N	\N	EFO	0	EFO	Undifferentiated Gallbladder Carcinoma	Undifferentiated Gallbladder Carcinoma
EFO:0003832	EFO:1000604	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	212644	\N	\N	EFO	1	EFO	gallbladder disease	Undifferentiated Gallbladder Carcinoma
EFO:0004606	EFO:1000604	\N	"A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	212645	\N	\N	EFO	1	EFO	gallbladder neoplasm	Undifferentiated Gallbladder Carcinoma
EFO:0006772	EFO:1000604	\N	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	212646	\N	\N	EFO	1	EFO	undifferentiated carcinoma	Undifferentiated Gallbladder Carcinoma
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	566342	\N	\N	EFO	2	EFO	digestive system disease	Undifferentiated Gallbladder Carcinoma
EFO:0000616	EFO:0004606	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	566343	\N	\N	EFO	2	EFO	neoplasm	Undifferentiated Gallbladder Carcinoma
EFO:0000313	EFO:0006772	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	566344	\N	\N	EFO	2	EFO	carcinoma	Undifferentiated Gallbladder Carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	1147736	\N	\N	EFO	3	EFO	disease	Undifferentiated Gallbladder Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	3180750	\N	\N	EFO	5	EFO	disease	Undifferentiated Gallbladder Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	1147738	\N	\N	EFO	3	EFO	cancer	Undifferentiated Gallbladder Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	1147739	\N	\N	EFO	3	EFO	epithelial neoplasm	Undifferentiated Gallbladder Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	4066800	\N	\N	EFO	6	EFO	disposition	Undifferentiated Gallbladder Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	2030031	\N	\N	EFO	4	EFO	neoplasm	Undifferentiated Gallbladder Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	2030032	\N	\N	EFO	4	EFO	neoplasm	Undifferentiated Gallbladder Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	5059491	\N	\N	EFO	7	EFO	material property	Undifferentiated Gallbladder Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000604	"A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." []	5876647	\N	\N	EFO	8	EFO	experimental factor	Undifferentiated Gallbladder Carcinoma
EFO:1000605	\N	\N	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	70199	\N	\N	EFO	0	EFO	Undifferentiated Ovarian Carcinoma	Undifferentiated Ovarian Carcinoma
EFO:0001075	EFO:1000605	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	212647	\N	\N	EFO	1	EFO	ovarian carcinoma	Undifferentiated Ovarian Carcinoma
EFO:0006772	EFO:1000605	\N	"A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	212648	\N	\N	EFO	1	EFO	undifferentiated carcinoma	Undifferentiated Ovarian Carcinoma
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	566345	\N	\N	EFO	2	EFO	carcinoma	Undifferentiated Ovarian Carcinoma
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	566346	\N	\N	EFO	2	EFO	ovarian neoplasm	Undifferentiated Ovarian Carcinoma
EFO:0000313	EFO:0006772	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	566347	\N	\N	EFO	2	EFO	carcinoma	Undifferentiated Ovarian Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	1147740	\N	\N	EFO	3	EFO	cancer	Undifferentiated Ovarian Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	1147741	\N	\N	EFO	3	EFO	epithelial neoplasm	Undifferentiated Ovarian Carcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	1147742	\N	\N	EFO	3	EFO	urogenital neoplasm	Undifferentiated Ovarian Carcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	1147743	\N	\N	EFO	3	EFO	ovarian disease	Undifferentiated Ovarian Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	2030033	\N	\N	EFO	4	EFO	neoplasm	Undifferentiated Ovarian Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	2030034	\N	\N	EFO	4	EFO	neoplasm	Undifferentiated Ovarian Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	2030035	\N	\N	EFO	4	EFO	neoplasm	Undifferentiated Ovarian Carcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	2030036	\N	\N	EFO	4	EFO	reproductive system disease	Undifferentiated Ovarian Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	3180751	\N	\N	EFO	5	EFO	disease	Undifferentiated Ovarian Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	3180752	\N	\N	EFO	5	EFO	disease	Undifferentiated Ovarian Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	4389378	\N	\N	EFO	6	EFO	disposition	Undifferentiated Ovarian Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	5409275	\N	\N	EFO	7	EFO	material property	Undifferentiated Ovarian Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000605	"An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." []	6147614	\N	\N	EFO	8	EFO	experimental factor	Undifferentiated Ovarian Carcinoma
EFO:1000606	\N	\N	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	70200	\N	\N	EFO	0	EFO	Undifferentiated Pancreatic Carcinoma	Undifferentiated Pancreatic Carcinoma
EFO:0002517	EFO:1000606	\N	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	212649	\N	\N	EFO	1	EFO	pancreatic ductal adenocarcinoma	Undifferentiated Pancreatic Carcinoma
EFO:0000430	EFO:0002517	\N	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	566348	\N	\N	EFO	2	EFO	ductal adenocarcinoma	Undifferentiated Pancreatic Carcinoma
EFO:0003860	EFO:0002517	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	566349	\N	\N	EFO	2	EFO	pancreatic neoplasm	Undifferentiated Pancreatic Carcinoma
EFO:0000228	EFO:0000430	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	1147744	\N	\N	EFO	3	EFO	adenocarcinoma	Undifferentiated Pancreatic Carcinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	1147745	\N	\N	EFO	3	EFO	endocrine neoplasm	Undifferentiated Pancreatic Carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	2030037	\N	\N	EFO	4	EFO	carcinoma	Undifferentiated Pancreatic Carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	2030038	\N	\N	EFO	4	EFO	neoplasm	Undifferentiated Pancreatic Carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	2030039	\N	\N	EFO	4	EFO	endocrine system disease	Undifferentiated Pancreatic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	3180753	\N	\N	EFO	5	EFO	cancer	Undifferentiated Pancreatic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	3180754	\N	\N	EFO	5	EFO	epithelial neoplasm	Undifferentiated Pancreatic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	5409276	\N	\N	EFO	7	EFO	disease	Undifferentiated Pancreatic Carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	3180756	\N	\N	EFO	5	EFO	disease	Undifferentiated Pancreatic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	4389379	\N	\N	EFO	6	EFO	neoplasm	Undifferentiated Pancreatic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	4389380	\N	\N	EFO	6	EFO	neoplasm	Undifferentiated Pancreatic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	5876648	\N	\N	EFO	8	EFO	disposition	Undifferentiated Pancreatic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	6469869	\N	\N	EFO	9	EFO	material property	Undifferentiated Pancreatic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000606	"A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." []	6848223	\N	\N	EFO	10	EFO	experimental factor	Undifferentiated Pancreatic Carcinoma
EFO:1000607	\N	\N	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	70201	\N	\N	EFO	0	EFO	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0002517	EFO:1000607	\N	"An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	212650	\N	\N	EFO	1	EFO	pancreatic ductal adenocarcinoma	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0000430	EFO:0002517	\N	"A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	566350	\N	\N	EFO	2	EFO	ductal adenocarcinoma	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0003860	EFO:0002517	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	566351	\N	\N	EFO	2	EFO	pancreatic neoplasm	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0000228	EFO:0000430	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	1147746	\N	\N	EFO	3	EFO	adenocarcinoma	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	1147747	\N	\N	EFO	3	EFO	endocrine neoplasm	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	2030040	\N	\N	EFO	4	EFO	carcinoma	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	2030041	\N	\N	EFO	4	EFO	neoplasm	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	2030042	\N	\N	EFO	4	EFO	endocrine system disease	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	3180757	\N	\N	EFO	5	EFO	cancer	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	3180758	\N	\N	EFO	5	EFO	epithelial neoplasm	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	5409278	\N	\N	EFO	7	EFO	disease	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	3180760	\N	\N	EFO	5	EFO	disease	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	4389382	\N	\N	EFO	6	EFO	neoplasm	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	4389383	\N	\N	EFO	6	EFO	neoplasm	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	5876649	\N	\N	EFO	8	EFO	disposition	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	6469870	\N	\N	EFO	9	EFO	material property	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000607	"A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." []	6848224	\N	\N	EFO	10	EFO	experimental factor	Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
EFO:1000608	\N	\N	"An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." []	EFO:1000608	"An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." []	70202	\N	\N	EFO	0	EFO	Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant	Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant
EFO:0000691	EFO:1000608	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000608	"An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." []	212651	\N	\N	EFO	1	EFO	sarcoma	Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000608	"An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." []	566352	\N	\N	EFO	2	EFO	cancer	Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000608	"An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." []	1147748	\N	\N	EFO	3	EFO	neoplasm	Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000608	"An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." []	2030043	\N	\N	EFO	4	EFO	disease	Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000608	"An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." []	3180761	\N	\N	EFO	5	EFO	disposition	Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000608	"An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." []	4389385	\N	\N	EFO	6	EFO	material property	Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000608	"An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." []	5409280	\N	\N	EFO	7	EFO	experimental factor	Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant
EFO:1000609	\N	\N	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	70203	\N	\N	EFO	0	EFO	Ureter Carcinoma	Ureter Carcinoma
EFO:0000313	EFO:1000609	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	212652	\N	\N	EFO	1	EFO	carcinoma	Ureter Carcinoma
EFO:0003844	EFO:1000609	\N	"Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	212653	\N	\N	EFO	1	EFO	ureteral neoplasm	Ureter Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	566353	\N	\N	EFO	2	EFO	cancer	Ureter Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	566354	\N	\N	EFO	2	EFO	epithelial neoplasm	Ureter Carcinoma
EFO:0003863	EFO:0003844	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	566355	\N	\N	EFO	2	EFO	urogenital neoplasm	Ureter Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	1147749	\N	\N	EFO	3	EFO	neoplasm	Ureter Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	1147750	\N	\N	EFO	3	EFO	neoplasm	Ureter Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	1147751	\N	\N	EFO	3	EFO	neoplasm	Ureter Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	2030044	\N	\N	EFO	4	EFO	disease	Ureter Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	3180762	\N	\N	EFO	5	EFO	disposition	Ureter Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	4389386	\N	\N	EFO	6	EFO	material property	Ureter Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000609	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	5409281	\N	\N	EFO	7	EFO	experimental factor	Ureter Carcinoma
EFO:1000610	\N	\N	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	70204	\N	\N	EFO	0	EFO	Ureter Small Cell Carcinoma	Ureter Small Cell Carcinoma
EFO:0000313	EFO:1000610	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	212654	\N	\N	EFO	1	EFO	carcinoma	Ureter Small Cell Carcinoma
EFO:0003844	EFO:1000610	\N	"Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	212655	\N	\N	EFO	1	EFO	ureteral neoplasm	Ureter Small Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	566356	\N	\N	EFO	2	EFO	cancer	Ureter Small Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	566357	\N	\N	EFO	2	EFO	epithelial neoplasm	Ureter Small Cell Carcinoma
EFO:0003863	EFO:0003844	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	566358	\N	\N	EFO	2	EFO	urogenital neoplasm	Ureter Small Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	1147752	\N	\N	EFO	3	EFO	neoplasm	Ureter Small Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	1147753	\N	\N	EFO	3	EFO	neoplasm	Ureter Small Cell Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	1147754	\N	\N	EFO	3	EFO	neoplasm	Ureter Small Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	2030045	\N	\N	EFO	4	EFO	disease	Ureter Small Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	3180763	\N	\N	EFO	5	EFO	disposition	Ureter Small Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	4389387	\N	\N	EFO	6	EFO	material property	Ureter Small Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000610	"A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." []	5409282	\N	\N	EFO	7	EFO	experimental factor	Ureter Small Cell Carcinoma
EFO:1000611	\N	\N	"A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." []	EFO:1000611	"A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." []	70205	\N	\N	EFO	0	EFO	Urothelial Dysplasia	Urothelial Dysplasia
EFO:0000616	EFO:1000611	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000611	"A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." []	212656	\N	\N	EFO	1	EFO	neoplasm	Urothelial Dysplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000611	"A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." []	566359	\N	\N	EFO	2	EFO	disease	Urothelial Dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000611	"A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." []	1147755	\N	\N	EFO	3	EFO	disposition	Urothelial Dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000611	"A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." []	2030046	\N	\N	EFO	4	EFO	material property	Urothelial Dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000611	"A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." []	3180764	\N	\N	EFO	5	EFO	experimental factor	Urothelial Dysplasia
EFO:1000612	\N	\N	"A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." []	EFO:1000612	"A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." []	70206	\N	\N	EFO	0	EFO	Usual Ductal Breast Hyperplasia	Usual Ductal Breast Hyperplasia
EFO:0000536	EFO:1000612	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1000612	"A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." []	212657	\N	\N	EFO	1	EFO	hyperplasia	Usual Ductal Breast Hyperplasia
EFO:0003869	EFO:1000612	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:1000612	"A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." []	212658	\N	\N	EFO	1	EFO	breast neoplasm	Usual Ductal Breast Hyperplasia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000612	"A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." []	566360	\N	\N	EFO	2	EFO	disease	Usual Ductal Breast Hyperplasia
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000612	"A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." []	566361	\N	\N	EFO	2	EFO	neoplasm	Usual Ductal Breast Hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000612	"A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." []	2030048	\N	\N	EFO	4	EFO	disposition	Usual Ductal Breast Hyperplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000612	"A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." []	1147757	\N	\N	EFO	3	EFO	disease	Usual Ductal Breast Hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000612	"A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." []	3000044	\N	\N	EFO	5	EFO	material property	Usual Ductal Breast Hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000612	"A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." []	4133037	\N	\N	EFO	6	EFO	experimental factor	Usual Ductal Breast Hyperplasia
EFO:1000613	\N	\N	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	70207	\N	\N	EFO	0	EFO	Uterine Carcinosarcoma	Uterine Carcinosarcoma
EFO:0000691	EFO:1000613	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	212659	\N	\N	EFO	1	EFO	sarcoma	Uterine Carcinosarcoma
EFO:0002919	EFO:1000613	\N	"Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	212660	\N	\N	EFO	1	EFO	uterine carcinoma	Uterine Carcinosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	566362	\N	\N	EFO	2	EFO	cancer	Uterine Carcinosarcoma
EFO:0000313	EFO:0002919	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	566363	\N	\N	EFO	2	EFO	carcinoma	Uterine Carcinosarcoma
EFO:0003859	EFO:0002919	\N	"Tumors or cancer of the UTERUS." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	566364	\N	\N	EFO	2	EFO	uterine neoplasm	Uterine Carcinosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	2030050	\N	\N	EFO	4	EFO	neoplasm	Uterine Carcinosarcoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	1147759	\N	\N	EFO	3	EFO	cancer	Uterine Carcinosarcoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	1147760	\N	\N	EFO	3	EFO	epithelial neoplasm	Uterine Carcinosarcoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	1147761	\N	\N	EFO	3	EFO	reproductive system disease	Uterine Carcinosarcoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	1147762	\N	\N	EFO	3	EFO	urogenital neoplasm	Uterine Carcinosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	3000045	\N	\N	EFO	5	EFO	disease	Uterine Carcinosarcoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	2030051	\N	\N	EFO	4	EFO	neoplasm	Uterine Carcinosarcoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	2030052	\N	\N	EFO	4	EFO	disease	Uterine Carcinosarcoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	2030053	\N	\N	EFO	4	EFO	neoplasm	Uterine Carcinosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	4133038	\N	\N	EFO	6	EFO	disposition	Uterine Carcinosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	5181289	\N	\N	EFO	7	EFO	material property	Uterine Carcinosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000613	"A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." []	5996732	\N	\N	EFO	8	EFO	experimental factor	Uterine Carcinosarcoma
EFO:1000614	\N	\N	"A rare morphologic variant of uterine leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." []	EFO:1000614	"A rare morphologic variant of uterine leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." []	70208	\N	\N	EFO	0	EFO	Uterine Corpus Lipoleiomyoma	Uterine Corpus Lipoleiomyoma
EFO:0003859	EFO:1000614	\N	"Tumors or cancer of the UTERUS." []	EFO:1000614	"A rare morphologic variant of uterine leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." []	212661	\N	\N	EFO	1	EFO	uterine neoplasm	Uterine Corpus Lipoleiomyoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000614	"A rare morphologic variant of uterine leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." []	566365	\N	\N	EFO	2	EFO	reproductive system disease	Uterine Corpus Lipoleiomyoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000614	"A rare morphologic variant of uterine leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." []	566366	\N	\N	EFO	2	EFO	urogenital neoplasm	Uterine Corpus Lipoleiomyoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000614	"A rare morphologic variant of uterine leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." []	1147763	\N	\N	EFO	3	EFO	disease	Uterine Corpus Lipoleiomyoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000614	"A rare morphologic variant of uterine leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." []	1147764	\N	\N	EFO	3	EFO	neoplasm	Uterine Corpus Lipoleiomyoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000614	"A rare morphologic variant of uterine leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." []	3180768	\N	\N	EFO	5	EFO	disposition	Uterine Corpus Lipoleiomyoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000614	"A rare morphologic variant of uterine leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." []	2030055	\N	\N	EFO	4	EFO	disease	Uterine Corpus Lipoleiomyoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000614	"A rare morphologic variant of uterine leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." []	4133039	\N	\N	EFO	6	EFO	material property	Uterine Corpus Lipoleiomyoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000614	"A rare morphologic variant of uterine leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." []	5181290	\N	\N	EFO	7	EFO	experimental factor	Uterine Corpus Lipoleiomyoma
EFO:1000615	\N	\N	"" []	EFO:1000615	"" []	70209	\N	\N	EFO	0	EFO	utering smooth muscle cell	utering smooth muscle cell
EFO:0000324	EFO:1000615	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:1000615	"" []	212662	\N	\N	EFO	1	EFO	cell type	utering smooth muscle cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:1000615	"" []	566367	\N	\N	EFO	2	EFO	material entity	utering smooth muscle cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000615	"" []	1147765	\N	\N	EFO	3	EFO	experimental factor	utering smooth muscle cell
EFO:1000616	\N	\N	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	70210	\N	\N	EFO	0	EFO	Uveal Melanoma	Uveal Melanoma
EFO:0000756	EFO:1000616	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	212663	\N	\N	EFO	1	EFO	melanoma	Uveal Melanoma
EFO:0003824	EFO:1000616	\N	"Tumors or cancer of the EYE." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	212664	\N	\N	EFO	1	EFO	eye neoplasm	Uveal Melanoma
EFO:0005950	EFO:1000616	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	212665	\N	\N	EFO	1	EFO	head and neck neoplasia	Uveal Melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	566368	\N	\N	EFO	2	EFO	carcinoma	Uveal Melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	566369	\N	\N	EFO	2	EFO	skin neoplasm	Uveal Melanoma
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	566370	\N	\N	EFO	2	EFO	neoplasm	Uveal Melanoma
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	566371	\N	\N	EFO	2	EFO	eye disease	Uveal Melanoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	566372	\N	\N	EFO	2	EFO	head disease	Uveal Melanoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	566373	\N	\N	EFO	2	EFO	neoplasm	Uveal Melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	1147766	\N	\N	EFO	3	EFO	cancer	Uveal Melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	1147767	\N	\N	EFO	3	EFO	epithelial neoplasm	Uveal Melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	1147768	\N	\N	EFO	3	EFO	neoplasm	Uveal Melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	1147769	\N	\N	EFO	3	EFO	skin disease	Uveal Melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	3180769	\N	\N	EFO	5	EFO	disease	Uveal Melanoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	1147771	\N	\N	EFO	3	EFO	disease	Uveal Melanoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	1147772	\N	\N	EFO	3	EFO	disease	Uveal Melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	2030056	\N	\N	EFO	4	EFO	neoplasm	Uveal Melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	2030057	\N	\N	EFO	4	EFO	neoplasm	Uveal Melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	2030059	\N	\N	EFO	4	EFO	disease	Uveal Melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	4066801	\N	\N	EFO	6	EFO	disposition	Uveal Melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	5059492	\N	\N	EFO	7	EFO	material property	Uveal Melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000616	"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." []	5876650	\N	\N	EFO	8	EFO	experimental factor	Uveal Melanoma
EFO:1000617	\N	\N	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	70211	\N	\N	EFO	0	EFO	Vaginal Adenoid Cystic Carcinoma	Vaginal Adenoid Cystic Carcinoma
EFO:0000231	EFO:1000617	\N	"Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)" []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	212666	\N	\N	EFO	1	EFO	adenoid cystic carcinoma	Vaginal Adenoid Cystic Carcinoma
EFO:0000512	EFO:1000617	\N	"any diease of the reproductive system" []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	212667	\N	\N	EFO	1	EFO	reproductive system disease	Vaginal Adenoid Cystic Carcinoma
EFO:0003863	EFO:1000617	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	212668	\N	\N	EFO	1	EFO	urogenital neoplasm	Vaginal Adenoid Cystic Carcinoma
EFO:0000313	EFO:0000231	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	566374	\N	\N	EFO	2	EFO	carcinoma	Vaginal Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	566375	\N	\N	EFO	2	EFO	disease	Vaginal Adenoid Cystic Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	566376	\N	\N	EFO	2	EFO	neoplasm	Vaginal Adenoid Cystic Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	1147773	\N	\N	EFO	3	EFO	cancer	Vaginal Adenoid Cystic Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	1147774	\N	\N	EFO	3	EFO	epithelial neoplasm	Vaginal Adenoid Cystic Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	4066802	\N	\N	EFO	6	EFO	disposition	Vaginal Adenoid Cystic Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	3180771	\N	\N	EFO	5	EFO	disease	Vaginal Adenoid Cystic Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	2030061	\N	\N	EFO	4	EFO	neoplasm	Vaginal Adenoid Cystic Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	2030062	\N	\N	EFO	4	EFO	neoplasm	Vaginal Adenoid Cystic Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	5028365	\N	\N	EFO	7	EFO	material property	Vaginal Adenoid Cystic Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000617	"An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." []	5817406	\N	\N	EFO	8	EFO	experimental factor	Vaginal Adenoid Cystic Carcinoma
EFO:1000618	\N	\N	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	70212	\N	\N	EFO	0	EFO	Vaginal Carcinosarcoma	Vaginal Carcinosarcoma
EFO:0000313	EFO:1000618	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	212669	\N	\N	EFO	1	EFO	carcinoma	Vaginal Carcinosarcoma
EFO:0000512	EFO:1000618	\N	"any diease of the reproductive system" []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	212670	\N	\N	EFO	1	EFO	reproductive system disease	Vaginal Carcinosarcoma
EFO:0003863	EFO:1000618	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	212671	\N	\N	EFO	1	EFO	urogenital neoplasm	Vaginal Carcinosarcoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	566377	\N	\N	EFO	2	EFO	cancer	Vaginal Carcinosarcoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	566378	\N	\N	EFO	2	EFO	epithelial neoplasm	Vaginal Carcinosarcoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	566379	\N	\N	EFO	2	EFO	disease	Vaginal Carcinosarcoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	566380	\N	\N	EFO	2	EFO	neoplasm	Vaginal Carcinosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	1147777	\N	\N	EFO	3	EFO	neoplasm	Vaginal Carcinosarcoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	1147778	\N	\N	EFO	3	EFO	neoplasm	Vaginal Carcinosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	3000049	\N	\N	EFO	5	EFO	disposition	Vaginal Carcinosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	2030065	\N	\N	EFO	4	EFO	disease	Vaginal Carcinosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	4066803	\N	\N	EFO	6	EFO	material property	Vaginal Carcinosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000618	"An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." []	5059493	\N	\N	EFO	7	EFO	experimental factor	Vaginal Carcinosarcoma
EFO:1000619	\N	\N	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	70213	\N	\N	EFO	0	EFO	Vaginal Melanoma	Vaginal Melanoma
EFO:0000512	EFO:1000619	\N	"any diease of the reproductive system" []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	212672	\N	\N	EFO	1	EFO	reproductive system disease	Vaginal Melanoma
EFO:0000756	EFO:1000619	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	212673	\N	\N	EFO	1	EFO	melanoma	Vaginal Melanoma
EFO:0003863	EFO:1000619	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	212674	\N	\N	EFO	1	EFO	urogenital neoplasm	Vaginal Melanoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	566381	\N	\N	EFO	2	EFO	disease	Vaginal Melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	566382	\N	\N	EFO	2	EFO	carcinoma	Vaginal Melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	566383	\N	\N	EFO	2	EFO	skin neoplasm	Vaginal Melanoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	566384	\N	\N	EFO	2	EFO	neoplasm	Vaginal Melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	4066805	\N	\N	EFO	6	EFO	disposition	Vaginal Melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	1147782	\N	\N	EFO	3	EFO	cancer	Vaginal Melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	1147783	\N	\N	EFO	3	EFO	epithelial neoplasm	Vaginal Melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	1147784	\N	\N	EFO	3	EFO	neoplasm	Vaginal Melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	1147785	\N	\N	EFO	3	EFO	skin disease	Vaginal Melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	3180775	\N	\N	EFO	5	EFO	disease	Vaginal Melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	5028366	\N	\N	EFO	7	EFO	material property	Vaginal Melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	2030069	\N	\N	EFO	4	EFO	neoplasm	Vaginal Melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	2030070	\N	\N	EFO	4	EFO	neoplasm	Vaginal Melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	2030072	\N	\N	EFO	4	EFO	disease	Vaginal Melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000619	"A primary malignant neoplasm of the vagina composed of malignant melanocytes." []	5817407	\N	\N	EFO	8	EFO	experimental factor	Vaginal Melanoma
EFO:1000620	\N	\N	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	70214	\N	\N	EFO	0	EFO	Vaginal Squamous Cell Carcinoma	Vaginal Squamous Cell Carcinoma
EFO:0000512	EFO:1000620	\N	"any diease of the reproductive system" []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	212675	\N	\N	EFO	1	EFO	reproductive system disease	Vaginal Squamous Cell Carcinoma
EFO:0000707	EFO:1000620	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	212676	\N	\N	EFO	1	EFO	squamous cell carcinoma	Vaginal Squamous Cell Carcinoma
EFO:0003863	EFO:1000620	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	212677	\N	\N	EFO	1	EFO	urogenital neoplasm	Vaginal Squamous Cell Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	566385	\N	\N	EFO	2	EFO	disease	Vaginal Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	566386	\N	\N	EFO	2	EFO	carcinoma	Vaginal Squamous Cell Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	566387	\N	\N	EFO	2	EFO	neoplasm	Vaginal Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	4066806	\N	\N	EFO	6	EFO	disposition	Vaginal Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	1147788	\N	\N	EFO	3	EFO	cancer	Vaginal Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	1147789	\N	\N	EFO	3	EFO	epithelial neoplasm	Vaginal Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	3180777	\N	\N	EFO	5	EFO	disease	Vaginal Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	5028367	\N	\N	EFO	7	EFO	material property	Vaginal Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	2030075	\N	\N	EFO	4	EFO	neoplasm	Vaginal Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	2030076	\N	\N	EFO	4	EFO	neoplasm	Vaginal Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000620	"A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." []	5817408	\N	\N	EFO	8	EFO	experimental factor	Vaginal Squamous Cell Carcinoma
EFO:1000621	\N	\N	"A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." []	EFO:1000621	"A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." []	70215	\N	\N	EFO	0	EFO	Vagus Nerve Paraganglioma	Vagus Nerve Paraganglioma
EFO:1000453	EFO:1000621	\N	"A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." []	EFO:1000621	"A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." []	212678	\N	\N	EFO	1	EFO	Paraganglioma	Vagus Nerve Paraganglioma
EFO:0003769	EFO:1000453	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000621	"A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." []	566388	\N	\N	EFO	2	EFO	endocrine neoplasm	Vagus Nerve Paraganglioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000621	"A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." []	1147791	\N	\N	EFO	3	EFO	neoplasm	Vagus Nerve Paraganglioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000621	"A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." []	1147792	\N	\N	EFO	3	EFO	endocrine system disease	Vagus Nerve Paraganglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000621	"A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." []	2030078	\N	\N	EFO	4	EFO	disease	Vagus Nerve Paraganglioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000621	"A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." []	2030079	\N	\N	EFO	4	EFO	disease	Vagus Nerve Paraganglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000621	"A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." []	3180778	\N	\N	EFO	5	EFO	disposition	Vagus Nerve Paraganglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000621	"A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." []	4389391	\N	\N	EFO	6	EFO	material property	Vagus Nerve Paraganglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000621	"A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." []	5409284	\N	\N	EFO	7	EFO	experimental factor	Vagus Nerve Paraganglioma
EFO:1000622	\N	\N	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	70216	\N	\N	EFO	0	EFO	VIP-Producing Neuroendocrine Tumor	VIP-Producing Neuroendocrine Tumor
EFO:0000405	EFO:1000622	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	212679	\N	\N	EFO	1	EFO	digestive system disease	VIP-Producing Neuroendocrine Tumor
EFO:0003860	EFO:1000622	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	212680	\N	\N	EFO	1	EFO	pancreatic neoplasm	VIP-Producing Neuroendocrine Tumor
EFO:1001901	EFO:1000622	\N	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	212681	\N	\N	EFO	1	EFO	neuroendocrine neoplasm	VIP-Producing Neuroendocrine Tumor
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	566389	\N	\N	EFO	2	EFO	disease	VIP-Producing Neuroendocrine Tumor
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	566390	\N	\N	EFO	2	EFO	endocrine neoplasm	VIP-Producing Neuroendocrine Tumor
EFO:0003769	EFO:1001901	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	566391	\N	\N	EFO	2	EFO	endocrine neoplasm	VIP-Producing Neuroendocrine Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	3180780	\N	\N	EFO	5	EFO	disposition	VIP-Producing Neuroendocrine Tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	1147794	\N	\N	EFO	3	EFO	neoplasm	VIP-Producing Neuroendocrine Tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	1147795	\N	\N	EFO	3	EFO	endocrine system disease	VIP-Producing Neuroendocrine Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	4066807	\N	\N	EFO	6	EFO	material property	VIP-Producing Neuroendocrine Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	2030081	\N	\N	EFO	4	EFO	disease	VIP-Producing Neuroendocrine Tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	2030082	\N	\N	EFO	4	EFO	disease	VIP-Producing Neuroendocrine Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000622	"An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances." []	5059495	\N	\N	EFO	7	EFO	experimental factor	VIP-Producing Neuroendocrine Tumor
EFO:1000623	\N	\N	"A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." []	EFO:1000623	"A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." []	70217	\N	\N	EFO	0	EFO	Vulvar Lichen Sclerosus	Vulvar Lichen Sclerosus
EFO:0000512	EFO:1000623	\N	"any diease of the reproductive system" []	EFO:1000623	"A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." []	212682	\N	\N	EFO	1	EFO	reproductive system disease	Vulvar Lichen Sclerosus
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000623	"A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." []	566392	\N	\N	EFO	2	EFO	disease	Vulvar Lichen Sclerosus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000623	"A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." []	1147796	\N	\N	EFO	3	EFO	disposition	Vulvar Lichen Sclerosus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000623	"A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." []	2030083	\N	\N	EFO	4	EFO	material property	Vulvar Lichen Sclerosus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000623	"A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." []	3180781	\N	\N	EFO	5	EFO	experimental factor	Vulvar Lichen Sclerosus
EFO:1000624	\N	\N	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	70218	\N	\N	EFO	0	EFO	Vulvar Squamous Cell Carcinoma	Vulvar Squamous Cell Carcinoma
EFO:0000707	EFO:1000624	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	212683	\N	\N	EFO	1	EFO	squamous cell carcinoma	Vulvar Squamous Cell Carcinoma
EFO:0002921	EFO:1000624	\N	"A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	212684	\N	\N	EFO	1	EFO	vulvar carcinoma	Vulvar Squamous Cell Carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	566393	\N	\N	EFO	2	EFO	carcinoma	Vulvar Squamous Cell Carcinoma
EFO:0000313	EFO:0002921	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	566394	\N	\N	EFO	2	EFO	carcinoma	Vulvar Squamous Cell Carcinoma
EFO:0000512	EFO:0002921	\N	"any diease of the reproductive system" []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	566395	\N	\N	EFO	2	EFO	reproductive system disease	Vulvar Squamous Cell Carcinoma
EFO:0003863	EFO:0002921	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	566396	\N	\N	EFO	2	EFO	urogenital neoplasm	Vulvar Squamous Cell Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	1147797	\N	\N	EFO	3	EFO	cancer	Vulvar Squamous Cell Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	1147798	\N	\N	EFO	3	EFO	epithelial neoplasm	Vulvar Squamous Cell Carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	1147799	\N	\N	EFO	3	EFO	disease	Vulvar Squamous Cell Carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	1147800	\N	\N	EFO	3	EFO	neoplasm	Vulvar Squamous Cell Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	2030084	\N	\N	EFO	4	EFO	neoplasm	Vulvar Squamous Cell Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	2030085	\N	\N	EFO	4	EFO	neoplasm	Vulvar Squamous Cell Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	4133046	\N	\N	EFO	6	EFO	disposition	Vulvar Squamous Cell Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	3180782	\N	\N	EFO	5	EFO	disease	Vulvar Squamous Cell Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	5059496	\N	\N	EFO	7	EFO	material property	Vulvar Squamous Cell Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000624	"An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" []	5876651	\N	\N	EFO	8	EFO	experimental factor	Vulvar Squamous Cell Carcinoma
EFO:1000625	\N	\N	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	70219	\N	\N	EFO	0	EFO	Warthin Tumor	Warthin Tumor
EFO:0000232	EFO:1000625	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	212685	\N	\N	EFO	1	EFO	adenoma	Warthin Tumor
EFO:0003826	EFO:1000625	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	212686	\N	\N	EFO	1	EFO	salivary gland neoplasm	Warthin Tumor
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	566397	\N	\N	EFO	2	EFO	benign neoplasm	Warthin Tumor
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	566398	\N	\N	EFO	2	EFO	digestive system disease	Warthin Tumor
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	566399	\N	\N	EFO	2	EFO	head and neck neoplasia	Warthin Tumor
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	1147801	\N	\N	EFO	3	EFO	neoplasm	Warthin Tumor
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	1147802	\N	\N	EFO	3	EFO	disease	Warthin Tumor
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	1147803	\N	\N	EFO	3	EFO	head disease	Warthin Tumor
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	1147804	\N	\N	EFO	3	EFO	neoplasm	Warthin Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	2030088	\N	\N	EFO	4	EFO	disease	Warthin Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	3180785	\N	\N	EFO	5	EFO	disposition	Warthin Tumor
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	2030090	\N	\N	EFO	4	EFO	disease	Warthin Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	4133047	\N	\N	EFO	6	EFO	material property	Warthin Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000625	"An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." []	5181293	\N	\N	EFO	7	EFO	experimental factor	Warthin Tumor
EFO:1000627	\N	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000627	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	70220	\N	\N	EFO	0	EFO	thyroid disease	thyroid disease
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000627	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	212687	\N	\N	EFO	1	EFO	endocrine system disease	thyroid disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000627	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	566400	\N	\N	EFO	2	EFO	disease	thyroid disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000627	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	1147805	\N	\N	EFO	3	EFO	disposition	thyroid disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000627	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	2030091	\N	\N	EFO	4	EFO	material property	thyroid disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000627	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	3180787	\N	\N	EFO	5	EFO	experimental factor	thyroid disease
EFO:1000630	\N	\N	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	EFO:1000630	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	70221	\N	\N	EFO	0	EFO	marginal zone B-cell lymphoma	marginal zone B-cell lymphoma
EFO:0005952	EFO:1000630	\N	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	EFO:1000630	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	212688	\N	\N	EFO	1	EFO	non-Hodgkins lymphoma	marginal zone B-cell lymphoma
EFO:0000574	EFO:0005952	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000630	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	566401	\N	\N	EFO	2	EFO	lymphoma	marginal zone B-cell lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000630	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	1147806	\N	\N	EFO	3	EFO	lymphoid neoplasm	marginal zone B-cell lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000630	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	2030092	\N	\N	EFO	4	EFO	cancer	marginal zone B-cell lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000630	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	2030093	\N	\N	EFO	4	EFO	hematological system disease	marginal zone B-cell lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000630	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	3180788	\N	\N	EFO	5	EFO	neoplasm	marginal zone B-cell lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000630	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	3180789	\N	\N	EFO	5	EFO	disease	marginal zone B-cell lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000630	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	4389394	\N	\N	EFO	6	EFO	disease	marginal zone B-cell lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000630	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	5409285	\N	\N	EFO	7	EFO	disposition	marginal zone B-cell lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000630	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	5996733	\N	\N	EFO	8	EFO	material property	marginal zone B-cell lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000630	"A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." []	6550409	\N	\N	EFO	9	EFO	experimental factor	marginal zone B-cell lymphoma
EFO:1000631	\N	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	EFO:1000631	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	70222	\N	\N	EFO	0	EFO	palsy	palsy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000631	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	212689	\N	\N	EFO	1	EFO	nervous system disease	palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000631	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	566402	\N	\N	EFO	2	EFO	disease	palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000631	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	1147807	\N	\N	EFO	3	EFO	disposition	palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000631	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	2030094	\N	\N	EFO	4	EFO	material property	palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000631	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	3180790	\N	\N	EFO	5	EFO	experimental factor	palsy
EFO:1000632	\N	\N	"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." []	EFO:1000632	"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." []	70223	\N	\N	EFO	0	EFO	cerebral palsy	cerebral palsy
EFO:0005774	EFO:1000632	\N	"A disease affecting the brain or part of the brain." []	EFO:1000632	"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." []	212690	\N	\N	EFO	1	EFO	brain disease	cerebral palsy
EFO:1000631	EFO:1000632	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	EFO:1000632	"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." []	212691	\N	\N	EFO	1	EFO	palsy	cerebral palsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000632	"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." []	566403	\N	\N	EFO	2	EFO	nervous system disease	cerebral palsy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000632	"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." []	566404	\N	\N	EFO	2	EFO	nervous system disease	cerebral palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000632	"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." []	1147808	\N	\N	EFO	3	EFO	disease	cerebral palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000632	"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." []	2030095	\N	\N	EFO	4	EFO	disposition	cerebral palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000632	"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." []	3180791	\N	\N	EFO	5	EFO	material property	cerebral palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000632	"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." []	4389396	\N	\N	EFO	6	EFO	experimental factor	cerebral palsy
EFO:1000633	\N	\N	"Presence of multiple adenomatous polyps in the colon." []	EFO:1000633	"Presence of multiple adenomatous polyps in the colon." []	70224	\N	\N	EFO	0	EFO	adenomatous colon polyp	adenomatous colon polyp
EFO:0000662	EFO:1000633	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000633	"Presence of multiple adenomatous polyps in the colon." []	212692	\N	\N	EFO	1	EFO	polyp	adenomatous colon polyp
EFO:0004288	EFO:1000633	\N	"Tumors or cancer of the COLON." []	EFO:1000633	"Presence of multiple adenomatous polyps in the colon." []	212693	\N	\N	EFO	1	EFO	colonic neoplasm	adenomatous colon polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000633	"Presence of multiple adenomatous polyps in the colon." []	566405	\N	\N	EFO	2	EFO	neoplasm	adenomatous colon polyp
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000633	"Presence of multiple adenomatous polyps in the colon." []	566406	\N	\N	EFO	2	EFO	digestive system disease	adenomatous colon polyp
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000633	"Presence of multiple adenomatous polyps in the colon." []	566407	\N	\N	EFO	2	EFO	neoplasm	adenomatous colon polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000633	"Presence of multiple adenomatous polyps in the colon." []	1147809	\N	\N	EFO	3	EFO	disease	adenomatous colon polyp
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000633	"Presence of multiple adenomatous polyps in the colon." []	1147810	\N	\N	EFO	3	EFO	disease	adenomatous colon polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000633	"Presence of multiple adenomatous polyps in the colon." []	2030096	\N	\N	EFO	4	EFO	disposition	adenomatous colon polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000633	"Presence of multiple adenomatous polyps in the colon." []	3180792	\N	\N	EFO	5	EFO	material property	adenomatous colon polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000633	"Presence of multiple adenomatous polyps in the colon." []	4389397	\N	\N	EFO	6	EFO	experimental factor	adenomatous colon polyp
EFO:1000634	\N	\N	"A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." []	EFO:1000634	"A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." []	70225	\N	\N	EFO	0	EFO	hamartoma	hamartoma
EFO:0000616	EFO:1000634	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000634	"A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." []	212694	\N	\N	EFO	1	EFO	neoplasm	hamartoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000634	"A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." []	566408	\N	\N	EFO	2	EFO	disease	hamartoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000634	"A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." []	1147811	\N	\N	EFO	3	EFO	disposition	hamartoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000634	"A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." []	2030097	\N	\N	EFO	4	EFO	material property	hamartoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000634	"A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." []	3180793	\N	\N	EFO	5	EFO	experimental factor	hamartoma
EFO:1000635	\N	\N	"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." []	EFO:1000635	"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." []	70226	\N	\N	EFO	0	EFO	hemangioma	hemangioma
EFO:0000616	EFO:1000635	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000635	"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." []	212695	\N	\N	EFO	1	EFO	neoplasm	hemangioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000635	"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." []	566409	\N	\N	EFO	2	EFO	disease	hemangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000635	"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." []	1147812	\N	\N	EFO	3	EFO	disposition	hemangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000635	"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." []	2030098	\N	\N	EFO	4	EFO	material property	hemangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000635	"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." []	3180794	\N	\N	EFO	5	EFO	experimental factor	hemangioma
EFO:1000636	\N	\N	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	EFO:1000636	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	70227	\N	\N	EFO	0	EFO	inflammatory skin disease	inflammatory skin disease
EFO:0000701	EFO:1000636	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000636	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	212696	\N	\N	EFO	1	EFO	skin disease	inflammatory skin disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000636	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	566410	\N	\N	EFO	2	EFO	disease	inflammatory skin disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000636	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	1147813	\N	\N	EFO	3	EFO	disposition	inflammatory skin disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000636	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	2030099	\N	\N	EFO	4	EFO	material property	inflammatory skin disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000636	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	3180795	\N	\N	EFO	5	EFO	experimental factor	inflammatory skin disease
EFO:1000637	\N	\N	"Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." []	EFO:1000637	"Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." []	70228	\N	\N	EFO	0	EFO	acute respiratory distress syndrome	acute respiratory distress syndrome
EFO:0000684	EFO:1000637	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000637	"Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." []	212697	\N	\N	EFO	1	EFO	respiratory system disease	acute respiratory distress syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000637	"Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." []	566411	\N	\N	EFO	2	EFO	disease	acute respiratory distress syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000637	"Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." []	1147814	\N	\N	EFO	3	EFO	disposition	acute respiratory distress syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000637	"Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." []	2030100	\N	\N	EFO	4	EFO	material property	acute respiratory distress syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000637	"Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." []	3180796	\N	\N	EFO	5	EFO	experimental factor	acute respiratory distress syndrome
EFO:1000638	\N	\N	"A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement" []	EFO:1000638	"A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement" []	70229	\N	\N	EFO	0	EFO	Isaacs syndrome	Isaacs syndrome
EFO:0000618	EFO:1000638	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000638	"A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement" []	212698	\N	\N	EFO	1	EFO	nervous system disease	Isaacs syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000638	"A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement" []	566412	\N	\N	EFO	2	EFO	disease	Isaacs syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000638	"A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement" []	1147815	\N	\N	EFO	3	EFO	disposition	Isaacs syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000638	"A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement" []	2030101	\N	\N	EFO	4	EFO	material property	Isaacs syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000638	"A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement" []	3180797	\N	\N	EFO	5	EFO	experimental factor	Isaacs syndrome
EFO:1000639	\N	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	EFO:1000639	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	70230	\N	\N	EFO	0	EFO	acquired metabolic disease	acquired metabolic disease
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000639	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	212699	\N	\N	EFO	1	EFO	metabolic disease	acquired metabolic disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000639	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	566413	\N	\N	EFO	2	EFO	disease	acquired metabolic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000639	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	1147816	\N	\N	EFO	3	EFO	disposition	acquired metabolic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000639	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	2030102	\N	\N	EFO	4	EFO	material property	acquired metabolic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000639	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	3180798	\N	\N	EFO	5	EFO	experimental factor	acquired metabolic disease
EFO:1000640	\N	\N	"A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" []	EFO:1000640	"A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" []	70231	\N	\N	EFO	0	EFO	basal ganglia cerebrovascular disease	basal ganglia cerebrovascular disease
EFO:0003763	EFO:1000640	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1000640	"A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" []	212700	\N	\N	EFO	1	EFO	cerebrovascular disorder	basal ganglia cerebrovascular disease
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000640	"A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" []	566414	\N	\N	EFO	2	EFO	vascular disease	basal ganglia cerebrovascular disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000640	"A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" []	1147817	\N	\N	EFO	3	EFO	cardiovascular disease	basal ganglia cerebrovascular disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000640	"A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" []	2030103	\N	\N	EFO	4	EFO	disease	basal ganglia cerebrovascular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000640	"A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" []	3180799	\N	\N	EFO	5	EFO	disposition	basal ganglia cerebrovascular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000640	"A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" []	4389398	\N	\N	EFO	6	EFO	material property	basal ganglia cerebrovascular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000640	"A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" []	5409287	\N	\N	EFO	7	EFO	experimental factor	basal ganglia cerebrovascular disease
EFO:1000641	\N	\N	"Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." []	EFO:1000641	"Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." []	70232	\N	\N	EFO	0	EFO	congenital nonspherocytic hemolytic anemia	congenital nonspherocytic hemolytic anemia
Orphanet:68364	EFO:1000641	\N	"" []	EFO:1000641	"Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." []	212701	\N	\N	EFO	1	EFO	Hemoglobinopathy	congenital nonspherocytic hemolytic anemia
Orphanet:183651	Orphanet:68364	\N	"" []	EFO:1000641	"Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." []	566415	\N	\N	EFO	2	EFO	Rare constitutional anemia	congenital nonspherocytic hemolytic anemia
Orphanet:158300	Orphanet:183651	\N	"" []	EFO:1000641	"Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." []	1147818	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	congenital nonspherocytic hemolytic anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000641	"Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." []	2030104	\N	\N	EFO	4	EFO	genetic disorder	congenital nonspherocytic hemolytic anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000641	"Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." []	2030105	\N	\N	EFO	4	EFO	hematological system disease	congenital nonspherocytic hemolytic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000641	"Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." []	3180800	\N	\N	EFO	5	EFO	disease	congenital nonspherocytic hemolytic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000641	"Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." []	3180801	\N	\N	EFO	5	EFO	disease	congenital nonspherocytic hemolytic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000641	"Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." []	4389399	\N	\N	EFO	6	EFO	disposition	congenital nonspherocytic hemolytic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000641	"Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." []	5409288	\N	\N	EFO	7	EFO	material property	congenital nonspherocytic hemolytic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000641	"Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated." []	6147618	\N	\N	EFO	8	EFO	experimental factor	congenital nonspherocytic hemolytic anemia
EFO:1000642	\N	\N	"A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption." []	EFO:1000642	"A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption." []	70233	\N	\N	EFO	0	EFO	hemochromatosis	hemochromatosis
EFO:0000589	EFO:1000642	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000642	"A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption." []	212702	\N	\N	EFO	1	EFO	metabolic disease	hemochromatosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000642	"A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption." []	566416	\N	\N	EFO	2	EFO	disease	hemochromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000642	"A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption." []	1147819	\N	\N	EFO	3	EFO	disposition	hemochromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000642	"A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption." []	2030106	\N	\N	EFO	4	EFO	material property	hemochromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000642	"A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption." []	3180802	\N	\N	EFO	5	EFO	experimental factor	hemochromatosis
EFO:1000643	\N	\N	"an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized." []	EFO:1000643	"an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized." []	70234	\N	\N	EFO	0	EFO	infantile epileptic encephalopathy	infantile epileptic encephalopathy
EFO:0000474	EFO:1000643	\N	"A disorder characterized by recurrent seizures" []	EFO:1000643	"an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized." []	212703	\N	\N	EFO	1	EFO	epilepsy	infantile epileptic encephalopathy
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:1000643	"an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized." []	566417	\N	\N	EFO	2	EFO	brain disease	infantile epileptic encephalopathy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000643	"an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized." []	1147820	\N	\N	EFO	3	EFO	nervous system disease	infantile epileptic encephalopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000643	"an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized." []	2030107	\N	\N	EFO	4	EFO	disease	infantile epileptic encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000643	"an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized." []	3180803	\N	\N	EFO	5	EFO	disposition	infantile epileptic encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000643	"an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized." []	4389400	\N	\N	EFO	6	EFO	material property	infantile epileptic encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000643	"an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized." []	5409289	\N	\N	EFO	7	EFO	experimental factor	infantile epileptic encephalopathy
EFO:1000644	\N	\N	"A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts." []	EFO:1000644	"A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts." []	70235	\N	\N	EFO	0	EFO	newborn respiratory distress syndrome	newborn respiratory distress syndrome
EFO:0003818	EFO:1000644	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000644	"A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts." []	212704	\N	\N	EFO	1	EFO	lung disease	newborn respiratory distress syndrome
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000644	"A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts." []	566418	\N	\N	EFO	2	EFO	respiratory system disease	newborn respiratory distress syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000644	"A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts." []	1147821	\N	\N	EFO	3	EFO	disease	newborn respiratory distress syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000644	"A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts." []	2030108	\N	\N	EFO	4	EFO	disposition	newborn respiratory distress syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000644	"A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts." []	3180804	\N	\N	EFO	5	EFO	material property	newborn respiratory distress syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000644	"A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts." []	4389401	\N	\N	EFO	6	EFO	experimental factor	newborn respiratory distress syndrome
EFO:1000645	\N	\N	"A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart ." []	EFO:1000645	"A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart ." []	70236	\N	\N	EFO	0	EFO	orthostatic intolerance	orthostatic intolerance
EFO:0000618	EFO:1000645	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000645	"A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart ." []	212705	\N	\N	EFO	1	EFO	nervous system disease	orthostatic intolerance
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000645	"A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart ." []	566419	\N	\N	EFO	2	EFO	disease	orthostatic intolerance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000645	"A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart ." []	1147822	\N	\N	EFO	3	EFO	disposition	orthostatic intolerance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000645	"A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart ." []	2030109	\N	\N	EFO	4	EFO	material property	orthostatic intolerance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000645	"A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart ." []	3180805	\N	\N	EFO	5	EFO	experimental factor	orthostatic intolerance
EFO:1000646	\N	\N	"A carcinoma that is derived from epithelial cells with finger like projections" []	EFO:1000646	"A carcinoma that is derived from epithelial cells with finger like projections" []	70237	\N	\N	EFO	0	EFO	papillary carcinoma	papillary carcinoma
EFO:0006858	EFO:1000646	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000646	"A carcinoma that is derived from epithelial cells with finger like projections" []	212706	\N	\N	EFO	1	EFO	epithelial neoplasm	papillary carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000646	"A carcinoma that is derived from epithelial cells with finger like projections" []	566420	\N	\N	EFO	2	EFO	neoplasm	papillary carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000646	"A carcinoma that is derived from epithelial cells with finger like projections" []	1147823	\N	\N	EFO	3	EFO	disease	papillary carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000646	"A carcinoma that is derived from epithelial cells with finger like projections" []	2030110	\N	\N	EFO	4	EFO	disposition	papillary carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000646	"A carcinoma that is derived from epithelial cells with finger like projections" []	3180806	\N	\N	EFO	5	EFO	material property	papillary carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000646	"A carcinoma that is derived from epithelial cells with finger like projections" []	4389402	\N	\N	EFO	6	EFO	experimental factor	papillary carcinoma
EFO:1000647	\N	\N	"Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES." []	EFO:1000647	"Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES." []	70238	\N	\N	EFO	0	EFO	renal tubular transport disease	renal tubular transport disease
EFO:0003086	EFO:1000647	\N	"A disease affecting the kidneys" []	EFO:1000647	"Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES." []	212707	\N	\N	EFO	1	EFO	kidney disease	renal tubular transport disease
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000647	"Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES." []	566421	\N	\N	EFO	2	EFO	disease	renal tubular transport disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000647	"Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES." []	1147824	\N	\N	EFO	3	EFO	disposition	renal tubular transport disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000647	"Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES." []	2030111	\N	\N	EFO	4	EFO	material property	renal tubular transport disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000647	"Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES." []	3180807	\N	\N	EFO	5	EFO	experimental factor	renal tubular transport disease
EFO:1000648	\N	\N	"A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." []	EFO:1000648	"A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." []	70239	\N	\N	EFO	0	EFO	developmental dysplasia of the hip	developmental dysplasia of the hip
EFO:0005541	EFO:1000648	\N	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	EFO:1000648	"A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." []	212708	\N	\N	EFO	1	EFO	bone development disease	developmental dysplasia of the hip
EFO:0004260	EFO:0005541	\N	"Diseases of BONES." []	EFO:1000648	"A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." []	566422	\N	\N	EFO	2	EFO	bone disease	developmental dysplasia of the hip
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1000648	"A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." []	1147825	\N	\N	EFO	3	EFO	skeletal system disease	developmental dysplasia of the hip
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000648	"A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." []	2030112	\N	\N	EFO	4	EFO	disease	developmental dysplasia of the hip
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000648	"A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." []	3180808	\N	\N	EFO	5	EFO	disposition	developmental dysplasia of the hip
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000648	"A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." []	4389403	\N	\N	EFO	6	EFO	material property	developmental dysplasia of the hip
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000648	"A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." []	5409290	\N	\N	EFO	7	EFO	experimental factor	developmental dysplasia of the hip
EFO:1000649	\N	\N	"a subtype of breast cancer that is estrogen-receptor positive" []	EFO:1000649	"a subtype of breast cancer that is estrogen-receptor positive" []	70240	\N	\N	EFO	0	EFO	estrogen-receptor positive breast cancer	estrogen-receptor positive breast cancer
EFO:0000305	EFO:1000649	\N	"Tumors or cancer of the human BREAST." []	EFO:1000649	"a subtype of breast cancer that is estrogen-receptor positive" []	212709	\N	\N	EFO	1	EFO	breast carcinoma	estrogen-receptor positive breast cancer
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000649	"a subtype of breast cancer that is estrogen-receptor positive" []	566423	\N	\N	EFO	2	EFO	carcinoma	estrogen-receptor positive breast cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000649	"a subtype of breast cancer that is estrogen-receptor positive" []	1147826	\N	\N	EFO	3	EFO	cancer	estrogen-receptor positive breast cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000649	"a subtype of breast cancer that is estrogen-receptor positive" []	1147827	\N	\N	EFO	3	EFO	epithelial neoplasm	estrogen-receptor positive breast cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000649	"a subtype of breast cancer that is estrogen-receptor positive" []	2030113	\N	\N	EFO	4	EFO	neoplasm	estrogen-receptor positive breast cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000649	"a subtype of breast cancer that is estrogen-receptor positive" []	2030114	\N	\N	EFO	4	EFO	neoplasm	estrogen-receptor positive breast cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000649	"a subtype of breast cancer that is estrogen-receptor positive" []	3180809	\N	\N	EFO	5	EFO	disease	estrogen-receptor positive breast cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000649	"a subtype of breast cancer that is estrogen-receptor positive" []	4389404	\N	\N	EFO	6	EFO	disposition	estrogen-receptor positive breast cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000649	"a subtype of breast cancer that is estrogen-receptor positive" []	5409291	\N	\N	EFO	7	EFO	material property	estrogen-receptor positive breast cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000649	"a subtype of breast cancer that is estrogen-receptor positive" []	6147619	\N	\N	EFO	8	EFO	experimental factor	estrogen-receptor positive breast cancer
EFO:1000650	\N	\N	"a subtype of breast cancer that is estrogen-receptor negative" []	EFO:1000650	"a subtype of breast cancer that is estrogen-receptor negative" []	70241	\N	\N	EFO	0	EFO	estrogen-receptor negative breast cancer	estrogen-receptor negative breast cancer
EFO:0000305	EFO:1000650	\N	"Tumors or cancer of the human BREAST." []	EFO:1000650	"a subtype of breast cancer that is estrogen-receptor negative" []	212710	\N	\N	EFO	1	EFO	breast carcinoma	estrogen-receptor negative breast cancer
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000650	"a subtype of breast cancer that is estrogen-receptor negative" []	566424	\N	\N	EFO	2	EFO	carcinoma	estrogen-receptor negative breast cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000650	"a subtype of breast cancer that is estrogen-receptor negative" []	1147828	\N	\N	EFO	3	EFO	cancer	estrogen-receptor negative breast cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000650	"a subtype of breast cancer that is estrogen-receptor negative" []	1147829	\N	\N	EFO	3	EFO	epithelial neoplasm	estrogen-receptor negative breast cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000650	"a subtype of breast cancer that is estrogen-receptor negative" []	2030115	\N	\N	EFO	4	EFO	neoplasm	estrogen-receptor negative breast cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000650	"a subtype of breast cancer that is estrogen-receptor negative" []	2030116	\N	\N	EFO	4	EFO	neoplasm	estrogen-receptor negative breast cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000650	"a subtype of breast cancer that is estrogen-receptor negative" []	3180810	\N	\N	EFO	5	EFO	disease	estrogen-receptor negative breast cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000650	"a subtype of breast cancer that is estrogen-receptor negative" []	4389405	\N	\N	EFO	6	EFO	disposition	estrogen-receptor negative breast cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000650	"a subtype of breast cancer that is estrogen-receptor negative" []	5409292	\N	\N	EFO	7	EFO	material property	estrogen-receptor negative breast cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000650	"a subtype of breast cancer that is estrogen-receptor negative" []	6147620	\N	\N	EFO	8	EFO	experimental factor	estrogen-receptor negative breast cancer
EFO:1000651	\N	\N	"moderate to severe atopic dermatitis with allergic sensitisation" []	EFO:1000651	"moderate to severe atopic dermatitis with allergic sensitisation" []	70242	\N	\N	EFO	0	EFO	recalcitrant atopic dermatitis	recalcitrant atopic dermatitis
EFO:0000274	EFO:1000651	\N	"A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." []	EFO:1000651	"moderate to severe atopic dermatitis with allergic sensitisation" []	212711	\N	\N	EFO	1	EFO	atopic eczema	recalcitrant atopic dermatitis
EFO:0003785	EFO:0000274	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1000651	"moderate to severe atopic dermatitis with allergic sensitisation" []	566425	\N	\N	EFO	2	EFO	allergy	recalcitrant atopic dermatitis
EFO:1000636	EFO:0000274	\N	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	EFO:1000651	"moderate to severe atopic dermatitis with allergic sensitisation" []	566426	\N	\N	EFO	2	EFO	inflammatory skin disease	recalcitrant atopic dermatitis
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000651	"moderate to severe atopic dermatitis with allergic sensitisation" []	1147830	\N	\N	EFO	3	EFO	immune system disease	recalcitrant atopic dermatitis
EFO:0000701	EFO:1000636	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000651	"moderate to severe atopic dermatitis with allergic sensitisation" []	1147831	\N	\N	EFO	3	EFO	skin disease	recalcitrant atopic dermatitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000651	"moderate to severe atopic dermatitis with allergic sensitisation" []	2030117	\N	\N	EFO	4	EFO	disease	recalcitrant atopic dermatitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000651	"moderate to severe atopic dermatitis with allergic sensitisation" []	2030118	\N	\N	EFO	4	EFO	disease	recalcitrant atopic dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000651	"moderate to severe atopic dermatitis with allergic sensitisation" []	3180811	\N	\N	EFO	5	EFO	disposition	recalcitrant atopic dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000651	"moderate to severe atopic dermatitis with allergic sensitisation" []	4389406	\N	\N	EFO	6	EFO	material property	recalcitrant atopic dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000651	"moderate to severe atopic dermatitis with allergic sensitisation" []	5409293	\N	\N	EFO	7	EFO	experimental factor	recalcitrant atopic dermatitis
EFO:1000652	\N	\N	"a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process." []	EFO:1000652	"a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process." []	70243	\N	\N	EFO	0	EFO	acute pancreatitis	acute pancreatitis
EFO:0000278	EFO:1000652	\N	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	EFO:1000652	"a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process." []	212712	\N	\N	EFO	1	EFO	pancreatitis	acute pancreatitis
EFO:0000405	EFO:0000278	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000652	"a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process." []	566427	\N	\N	EFO	2	EFO	digestive system disease	acute pancreatitis
EFO:0001379	EFO:0000278	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000652	"a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process." []	566428	\N	\N	EFO	2	EFO	endocrine system disease	acute pancreatitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000652	"a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process." []	1147832	\N	\N	EFO	3	EFO	disease	acute pancreatitis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000652	"a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process." []	1147833	\N	\N	EFO	3	EFO	disease	acute pancreatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000652	"a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process." []	2030119	\N	\N	EFO	4	EFO	disposition	acute pancreatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000652	"a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process." []	3180812	\N	\N	EFO	5	EFO	material property	acute pancreatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000652	"a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process." []	4389407	\N	\N	EFO	6	EFO	experimental factor	acute pancreatitis
EFO:1000653	\N	\N	"Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." []	EFO:1000653	"Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." []	70244	\N	\N	EFO	0	EFO	sarcopenia	sarcopenia
EFO:0002970	EFO:1000653	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1000653	"Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." []	212713	\N	\N	EFO	1	EFO	muscular disease	sarcopenia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1000653	"Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." []	566429	\N	\N	EFO	2	EFO	skeletal system disease	sarcopenia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000653	"Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." []	1147834	\N	\N	EFO	3	EFO	disease	sarcopenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000653	"Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." []	2030120	\N	\N	EFO	4	EFO	disposition	sarcopenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000653	"Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." []	3180813	\N	\N	EFO	5	EFO	material property	sarcopenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000653	"Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." []	4389408	\N	\N	EFO	6	EFO	experimental factor	sarcopenia
EFO:1000654	\N	\N	"Any type of cancer that occurs during childhood" []	EFO:1000654	"Any type of cancer that occurs during childhood" []	70245	\N	\N	EFO	0	EFO	childhood cancer	childhood cancer
EFO:0000311	EFO:1000654	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000654	"Any type of cancer that occurs during childhood" []	212714	\N	\N	EFO	1	EFO	cancer	childhood cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000654	"Any type of cancer that occurs during childhood" []	566430	\N	\N	EFO	2	EFO	neoplasm	childhood cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000654	"Any type of cancer that occurs during childhood" []	1147835	\N	\N	EFO	3	EFO	disease	childhood cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000654	"Any type of cancer that occurs during childhood" []	2030121	\N	\N	EFO	4	EFO	disposition	childhood cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000654	"Any type of cancer that occurs during childhood" []	3180814	\N	\N	EFO	5	EFO	material property	childhood cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000654	"Any type of cancer that occurs during childhood" []	4389409	\N	\N	EFO	6	EFO	experimental factor	childhood cancer
EFO:1000656	\N	\N	"Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." []	EFO:1000656	"Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." []	70246	\N	\N	EFO	0	EFO	sporadic Creutzfeld Jacob disease	sporadic Creutzfeld Jacob disease
EFO:0004226	EFO:1000656	\N	"A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))." []	EFO:1000656	"Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." []	212715	\N	\N	EFO	1	EFO	Creutzfeldt Jacob Disease	sporadic Creutzfeld Jacob disease
EFO:0004720	EFO:0004226	\N	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	EFO:1000656	"Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." []	566431	\N	\N	EFO	2	EFO	prion disease	sporadic Creutzfeld Jacob disease
EFO:0000618	EFO:0004720	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000656	"Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." []	1147836	\N	\N	EFO	3	EFO	nervous system disease	sporadic Creutzfeld Jacob disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000656	"Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." []	2030122	\N	\N	EFO	4	EFO	disease	sporadic Creutzfeld Jacob disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000656	"Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." []	3180815	\N	\N	EFO	5	EFO	disposition	sporadic Creutzfeld Jacob disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000656	"Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." []	4389410	\N	\N	EFO	6	EFO	material property	sporadic Creutzfeld Jacob disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000656	"Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." []	5409294	\N	\N	EFO	7	EFO	experimental factor	sporadic Creutzfeld Jacob disease
EFO:1000657	\N	\N	"Colorectal cancer that is located in the rectum" []	EFO:1000657	"Colorectal cancer that is located in the rectum" []	70247	\N	\N	EFO	0	EFO	rectum cancer	rectum cancer
EFO:0005842	EFO:1000657	\N	"A large intestine cancer that is located in the colon and/or located in the rectum." []	EFO:1000657	"Colorectal cancer that is located in the rectum" []	212716	\N	\N	EFO	1	EFO	colorectal cancer	rectum cancer
EFO:0000311	EFO:0005842	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000657	"Colorectal cancer that is located in the rectum" []	566432	\N	\N	EFO	2	EFO	cancer	rectum cancer
EFO:0000405	EFO:0005842	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000657	"Colorectal cancer that is located in the rectum" []	566433	\N	\N	EFO	2	EFO	digestive system disease	rectum cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000657	"Colorectal cancer that is located in the rectum" []	1147837	\N	\N	EFO	3	EFO	neoplasm	rectum cancer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000657	"Colorectal cancer that is located in the rectum" []	1147838	\N	\N	EFO	3	EFO	disease	rectum cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000657	"Colorectal cancer that is located in the rectum" []	2030123	\N	\N	EFO	4	EFO	disease	rectum cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000657	"Colorectal cancer that is located in the rectum" []	3180816	\N	\N	EFO	5	EFO	disposition	rectum cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000657	"Colorectal cancer that is located in the rectum" []	4133048	\N	\N	EFO	6	EFO	material property	rectum cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000657	"Colorectal cancer that is located in the rectum" []	5181294	\N	\N	EFO	7	EFO	experimental factor	rectum cancer
EFO:1000660	\N	\N	"a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas." []	EFO:1000660	"a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas." []	70248	\N	\N	EFO	0	EFO	acanthosis nigricans	acanthosis nigricans
EFO:1000755	EFO:1000660	\N	"a group of diseases affecting the color of skin" []	EFO:1000660	"a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas." []	212717	\N	\N	EFO	1	EFO	pigmentation disease	acanthosis nigricans
EFO:0000701	EFO:1000755	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000660	"a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas." []	566434	\N	\N	EFO	2	EFO	skin disease	acanthosis nigricans
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000660	"a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas." []	1147839	\N	\N	EFO	3	EFO	disease	acanthosis nigricans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000660	"a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas." []	2030125	\N	\N	EFO	4	EFO	disposition	acanthosis nigricans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000660	"a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas." []	3180818	\N	\N	EFO	5	EFO	material property	acanthosis nigricans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000660	"a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas." []	4389412	\N	\N	EFO	6	EFO	experimental factor	acanthosis nigricans
EFO:1000661	\N	\N	"a rarely reported clinical disorder with recurring, sudden bruising of the volar part of a finger, appearing spontaneously or after minor trauma and resolving completely within days." []	EFO:1000661	"a rarely reported clinical disorder with recurring, sudden bruising of the volar part of a finger, appearing spontaneously or after minor trauma and resolving completely within days." []	70249	\N	\N	EFO	0	EFO	Achenbach syndrome	Achenbach syndrome
EFO:0000701	EFO:1000661	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000661	"a rarely reported clinical disorder with recurring, sudden bruising of the volar part of a finger, appearing spontaneously or after minor trauma and resolving completely within days." []	212718	\N	\N	EFO	1	EFO	skin disease	Achenbach syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000661	"a rarely reported clinical disorder with recurring, sudden bruising of the volar part of a finger, appearing spontaneously or after minor trauma and resolving completely within days." []	566435	\N	\N	EFO	2	EFO	disease	Achenbach syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000661	"a rarely reported clinical disorder with recurring, sudden bruising of the volar part of a finger, appearing spontaneously or after minor trauma and resolving completely within days." []	1147840	\N	\N	EFO	3	EFO	disposition	Achenbach syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000661	"a rarely reported clinical disorder with recurring, sudden bruising of the volar part of a finger, appearing spontaneously or after minor trauma and resolving completely within days." []	2030126	\N	\N	EFO	4	EFO	material property	Achenbach syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000661	"a rarely reported clinical disorder with recurring, sudden bruising of the volar part of a finger, appearing spontaneously or after minor trauma and resolving completely within days." []	3180819	\N	\N	EFO	5	EFO	experimental factor	Achenbach syndrome
EFO:1000662	\N	\N	"Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." []	EFO:1000662	"Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." []	70250	\N	\N	EFO	0	EFO	acneiform dermatitis	acneiform dermatitis
EFO:0000701	EFO:1000662	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000662	"Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." []	212719	\N	\N	EFO	1	EFO	skin disease	acneiform dermatitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000662	"Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." []	566436	\N	\N	EFO	2	EFO	disease	acneiform dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000662	"Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." []	1147841	\N	\N	EFO	3	EFO	disposition	acneiform dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000662	"Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." []	2030127	\N	\N	EFO	4	EFO	material property	acneiform dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000662	"Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." []	3180820	\N	\N	EFO	5	EFO	experimental factor	acneiform dermatitis
EFO:1000663	\N	\N	"a hornlike skin condition not inherited at birth, but acquired later in the life" []	EFO:1000663	"a hornlike skin condition not inherited at birth, but acquired later in the life" []	70251	\N	\N	EFO	0	EFO	acquired keratosis	acquired keratosis
EFO:1000720	EFO:1000663	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000663	"a hornlike skin condition not inherited at birth, but acquired later in the life" []	212720	\N	\N	EFO	1	EFO	keratosis	acquired keratosis
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000663	"a hornlike skin condition not inherited at birth, but acquired later in the life" []	566437	\N	\N	EFO	2	EFO	skin disease	acquired keratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000663	"a hornlike skin condition not inherited at birth, but acquired later in the life" []	1147842	\N	\N	EFO	3	EFO	disease	acquired keratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000663	"a hornlike skin condition not inherited at birth, but acquired later in the life" []	2030128	\N	\N	EFO	4	EFO	disposition	acquired keratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000663	"a hornlike skin condition not inherited at birth, but acquired later in the life" []	3180821	\N	\N	EFO	5	EFO	material property	acquired keratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000663	"a hornlike skin condition not inherited at birth, but acquired later in the life" []	4389413	\N	\N	EFO	6	EFO	experimental factor	acquired keratosis
EFO:1000664	\N	\N	"A dermatitis that selectively affects the hands and feet." []	EFO:1000664	"A dermatitis that selectively affects the hands and feet." []	70252	\N	\N	EFO	0	EFO	acrodermatitis	acrodermatitis
EFO:0000701	EFO:1000664	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000664	"A dermatitis that selectively affects the hands and feet." []	212721	\N	\N	EFO	1	EFO	skin disease	acrodermatitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000664	"A dermatitis that selectively affects the hands and feet." []	566438	\N	\N	EFO	2	EFO	disease	acrodermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000664	"A dermatitis that selectively affects the hands and feet." []	1147843	\N	\N	EFO	3	EFO	disposition	acrodermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000664	"A dermatitis that selectively affects the hands and feet." []	2030129	\N	\N	EFO	4	EFO	material property	acrodermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000664	"A dermatitis that selectively affects the hands and feet." []	3180822	\N	\N	EFO	5	EFO	experimental factor	acrodermatitis
EFO:1000665	\N	\N	"An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." []	EFO:1000665	"An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." []	70253	\N	\N	EFO	0	EFO	acrodermatitis chronica atrophicans	acrodermatitis chronica atrophicans
EFO:1000664	EFO:1000665	\N	"A dermatitis that selectively affects the hands and feet." []	EFO:1000665	"An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." []	212722	\N	\N	EFO	1	EFO	acrodermatitis	acrodermatitis chronica atrophicans
EFO:0000701	EFO:1000664	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000665	"An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." []	566439	\N	\N	EFO	2	EFO	skin disease	acrodermatitis chronica atrophicans
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000665	"An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." []	1147844	\N	\N	EFO	3	EFO	disease	acrodermatitis chronica atrophicans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000665	"An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." []	2030130	\N	\N	EFO	4	EFO	disposition	acrodermatitis chronica atrophicans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000665	"An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." []	3180823	\N	\N	EFO	5	EFO	material property	acrodermatitis chronica atrophicans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000665	"An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." []	4389414	\N	\N	EFO	6	EFO	experimental factor	acrodermatitis chronica atrophicans
EFO:1000666	\N	\N	"a rare genodermatosis with an autosomal dominant mode of inheritance. Acrokeratosis verruciformis is a disorder of keratinization characterized by multiple flat-topped, skin-colored keratotic lesions resembling plane warts typically observed on the dorsum of the hands and feet." []	EFO:1000666	"a rare genodermatosis with an autosomal dominant mode of inheritance. Acrokeratosis verruciformis is a disorder of keratinization characterized by multiple flat-topped, skin-colored keratotic lesions resembling plane warts typically observed on the dorsum of the hands and feet." []	70254	\N	\N	EFO	0	EFO	acrokeratosis verruciformis	acrokeratosis verruciformis
EFO:1000720	EFO:1000666	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000666	"a rare genodermatosis with an autosomal dominant mode of inheritance. Acrokeratosis verruciformis is a disorder of keratinization characterized by multiple flat-topped, skin-colored keratotic lesions resembling plane warts typically observed on the dorsum of the hands and feet." []	212723	\N	\N	EFO	1	EFO	keratosis	acrokeratosis verruciformis
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000666	"a rare genodermatosis with an autosomal dominant mode of inheritance. Acrokeratosis verruciformis is a disorder of keratinization characterized by multiple flat-topped, skin-colored keratotic lesions resembling plane warts typically observed on the dorsum of the hands and feet." []	566440	\N	\N	EFO	2	EFO	skin disease	acrokeratosis verruciformis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000666	"a rare genodermatosis with an autosomal dominant mode of inheritance. Acrokeratosis verruciformis is a disorder of keratinization characterized by multiple flat-topped, skin-colored keratotic lesions resembling plane warts typically observed on the dorsum of the hands and feet." []	1147845	\N	\N	EFO	3	EFO	disease	acrokeratosis verruciformis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000666	"a rare genodermatosis with an autosomal dominant mode of inheritance. Acrokeratosis verruciformis is a disorder of keratinization characterized by multiple flat-topped, skin-colored keratotic lesions resembling plane warts typically observed on the dorsum of the hands and feet." []	2030131	\N	\N	EFO	4	EFO	disposition	acrokeratosis verruciformis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000666	"a rare genodermatosis with an autosomal dominant mode of inheritance. Acrokeratosis verruciformis is a disorder of keratinization characterized by multiple flat-topped, skin-colored keratotic lesions resembling plane warts typically observed on the dorsum of the hands and feet." []	3180824	\N	\N	EFO	5	EFO	material property	acrokeratosis verruciformis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000666	"a rare genodermatosis with an autosomal dominant mode of inheritance. Acrokeratosis verruciformis is a disorder of keratinization characterized by multiple flat-topped, skin-colored keratotic lesions resembling plane warts typically observed on the dorsum of the hands and feet." []	4389415	\N	\N	EFO	6	EFO	experimental factor	acrokeratosis verruciformis
EFO:1000667	\N	\N	"a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities." []	EFO:1000667	"a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities." []	70255	\N	\N	EFO	0	EFO	adiposis dolorosa	adiposis dolorosa
EFO:1000728	EFO:1000667	\N	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	EFO:1000667	"a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities." []	212724	\N	\N	EFO	1	EFO	lipomatosis	adiposis dolorosa
EFO:0000701	EFO:1000728	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000667	"a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities." []	566441	\N	\N	EFO	2	EFO	skin disease	adiposis dolorosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000667	"a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities." []	1147846	\N	\N	EFO	3	EFO	disease	adiposis dolorosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000667	"a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities." []	2030132	\N	\N	EFO	4	EFO	disposition	adiposis dolorosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000667	"a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities." []	3180825	\N	\N	EFO	5	EFO	material property	adiposis dolorosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000667	"a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities." []	4389416	\N	\N	EFO	6	EFO	experimental factor	adiposis dolorosa
EFO:1000668	\N	\N	"A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." []	EFO:1000668	"A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." []	70256	\N	\N	EFO	0	EFO	allergic contact dermatitis	allergic contact dermatitis
EFO:0005319	EFO:1000668	\N	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	EFO:1000668	"A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." []	212725	\N	\N	EFO	1	EFO	contact dermatitis	allergic contact dermatitis
EFO:0003785	EFO:0005319	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1000668	"A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." []	566442	\N	\N	EFO	2	EFO	allergy	allergic contact dermatitis
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000668	"A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." []	1147847	\N	\N	EFO	3	EFO	immune system disease	allergic contact dermatitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000668	"A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." []	2030133	\N	\N	EFO	4	EFO	disease	allergic contact dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000668	"A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." []	3180826	\N	\N	EFO	5	EFO	disposition	allergic contact dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000668	"A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." []	4389417	\N	\N	EFO	6	EFO	material property	allergic contact dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000668	"A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." []	5409295	\N	\N	EFO	7	EFO	experimental factor	allergic contact dermatitis
EFO:1000669	\N	\N	"commonly referred to as hives, is a kind of skin rash notable for pale red, raised, itchy bumps. Hives may cause a burning or stinging sensation. Histamine and other proinflammatory substances are released from mast cells in the skin and tissues in response to the binding of allergen-bound IgE antibodies to high-affinity cell surface receptors. Basophils and other inflammatory cells are also seen to release histamine and other mediators, and are thought to play an important role, especially in chronic urticarial diseases." []	EFO:1000669	"commonly referred to as hives, is a kind of skin rash notable for pale red, raised, itchy bumps. Hives may cause a burning or stinging sensation. Histamine and other proinflammatory substances are released from mast cells in the skin and tissues in response to the binding of allergen-bound IgE antibodies to high-affinity cell surface receptors. Basophils and other inflammatory cells are also seen to release histamine and other mediators, and are thought to play an important role, especially in chronic urticarial diseases." []	70257	\N	\N	EFO	0	EFO	allergic urticaria	allergic urticaria
EFO:0005531	EFO:1000669	\N	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	EFO:1000669	"commonly referred to as hives, is a kind of skin rash notable for pale red, raised, itchy bumps. Hives may cause a burning or stinging sensation. Histamine and other proinflammatory substances are released from mast cells in the skin and tissues in response to the binding of allergen-bound IgE antibodies to high-affinity cell surface receptors. Basophils and other inflammatory cells are also seen to release histamine and other mediators, and are thought to play an important role, especially in chronic urticarial diseases." []	212726	\N	\N	EFO	1	EFO	urticaria	allergic urticaria
EFO:0000701	EFO:0005531	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000669	"commonly referred to as hives, is a kind of skin rash notable for pale red, raised, itchy bumps. Hives may cause a burning or stinging sensation. Histamine and other proinflammatory substances are released from mast cells in the skin and tissues in response to the binding of allergen-bound IgE antibodies to high-affinity cell surface receptors. Basophils and other inflammatory cells are also seen to release histamine and other mediators, and are thought to play an important role, especially in chronic urticarial diseases." []	566443	\N	\N	EFO	2	EFO	skin disease	allergic urticaria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000669	"commonly referred to as hives, is a kind of skin rash notable for pale red, raised, itchy bumps. Hives may cause a burning or stinging sensation. Histamine and other proinflammatory substances are released from mast cells in the skin and tissues in response to the binding of allergen-bound IgE antibodies to high-affinity cell surface receptors. Basophils and other inflammatory cells are also seen to release histamine and other mediators, and are thought to play an important role, especially in chronic urticarial diseases." []	1147848	\N	\N	EFO	3	EFO	disease	allergic urticaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000669	"commonly referred to as hives, is a kind of skin rash notable for pale red, raised, itchy bumps. Hives may cause a burning or stinging sensation. Histamine and other proinflammatory substances are released from mast cells in the skin and tissues in response to the binding of allergen-bound IgE antibodies to high-affinity cell surface receptors. Basophils and other inflammatory cells are also seen to release histamine and other mediators, and are thought to play an important role, especially in chronic urticarial diseases." []	2030134	\N	\N	EFO	4	EFO	disposition	allergic urticaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000669	"commonly referred to as hives, is a kind of skin rash notable for pale red, raised, itchy bumps. Hives may cause a burning or stinging sensation. Histamine and other proinflammatory substances are released from mast cells in the skin and tissues in response to the binding of allergen-bound IgE antibodies to high-affinity cell surface receptors. Basophils and other inflammatory cells are also seen to release histamine and other mediators, and are thought to play an important role, especially in chronic urticarial diseases." []	3180827	\N	\N	EFO	5	EFO	material property	allergic urticaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000669	"commonly referred to as hives, is a kind of skin rash notable for pale red, raised, itchy bumps. Hives may cause a burning or stinging sensation. Histamine and other proinflammatory substances are released from mast cells in the skin and tissues in response to the binding of allergen-bound IgE antibodies to high-affinity cell surface receptors. Basophils and other inflammatory cells are also seen to release histamine and other mediators, and are thought to play an important role, especially in chronic urticarial diseases." []	4389418	\N	\N	EFO	6	EFO	experimental factor	allergic urticaria
EFO:1000670	\N	\N	"the inability to sweat normally. When you don't sweat (perspire), your body can't cool itself, which can lead to overheating and sometimes to heatstroke  a potentially fatal condition. Anhidrosis sometimes called hypohidrosis  can be difficult to diagnose." []	EFO:1000670	"the inability to sweat normally. When you don't sweat (perspire), your body can't cool itself, which can lead to overheating and sometimes to heatstroke  a potentially fatal condition. Anhidrosis sometimes called hypohidrosis  can be difficult to diagnose." []	70258	\N	\N	EFO	0	EFO	anhidrosis	anhidrosis
EFO:1000772	EFO:1000670	\N	"disorders or sweat glands" []	EFO:1000670	"the inability to sweat normally. When you don't sweat (perspire), your body can't cool itself, which can lead to overheating and sometimes to heatstroke  a potentially fatal condition. Anhidrosis sometimes called hypohidrosis  can be difficult to diagnose." []	212727	\N	\N	EFO	1	EFO	sweat gland disease	anhidrosis
EFO:0000701	EFO:1000772	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000670	"the inability to sweat normally. When you don't sweat (perspire), your body can't cool itself, which can lead to overheating and sometimes to heatstroke  a potentially fatal condition. Anhidrosis sometimes called hypohidrosis  can be difficult to diagnose." []	566444	\N	\N	EFO	2	EFO	skin disease	anhidrosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000670	"the inability to sweat normally. When you don't sweat (perspire), your body can't cool itself, which can lead to overheating and sometimes to heatstroke  a potentially fatal condition. Anhidrosis sometimes called hypohidrosis  can be difficult to diagnose." []	1147849	\N	\N	EFO	3	EFO	disease	anhidrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000670	"the inability to sweat normally. When you don't sweat (perspire), your body can't cool itself, which can lead to overheating and sometimes to heatstroke  a potentially fatal condition. Anhidrosis sometimes called hypohidrosis  can be difficult to diagnose." []	2030135	\N	\N	EFO	4	EFO	disposition	anhidrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000670	"the inability to sweat normally. When you don't sweat (perspire), your body can't cool itself, which can lead to overheating and sometimes to heatstroke  a potentially fatal condition. Anhidrosis sometimes called hypohidrosis  can be difficult to diagnose." []	3180828	\N	\N	EFO	5	EFO	material property	anhidrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000670	"the inability to sweat normally. When you don't sweat (perspire), your body can't cool itself, which can lead to overheating and sometimes to heatstroke  a potentially fatal condition. Anhidrosis sometimes called hypohidrosis  can be difficult to diagnose." []	4389419	\N	\N	EFO	6	EFO	experimental factor	anhidrosis
EFO:1000671	\N	\N	"a bacteria-induced exanthem" []	EFO:1000671	"a bacteria-induced exanthem" []	70259	\N	\N	EFO	0	EFO	bacterial exanthem	bacterial exanthem
EFO:1000697	EFO:1000671	\N	"a widespread rash usually occurring in children but can occur in adults. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease. It can be contrasted with an enanthem." []	EFO:1000671	"a bacteria-induced exanthem" []	212728	\N	\N	EFO	1	EFO	exanthem	bacterial exanthem
EFO:0000701	EFO:1000697	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000671	"a bacteria-induced exanthem" []	566445	\N	\N	EFO	2	EFO	skin disease	bacterial exanthem
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000671	"a bacteria-induced exanthem" []	1147850	\N	\N	EFO	3	EFO	disease	bacterial exanthem
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000671	"a bacteria-induced exanthem" []	2030136	\N	\N	EFO	4	EFO	disposition	bacterial exanthem
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000671	"a bacteria-induced exanthem" []	3180829	\N	\N	EFO	5	EFO	material property	bacterial exanthem
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000671	"a bacteria-induced exanthem" []	4389420	\N	\N	EFO	6	EFO	experimental factor	bacterial exanthem
EFO:1000672	\N	\N	"a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system." []	EFO:1000672	"a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system." []	70260	\N	\N	EFO	0	EFO	Bloch-Sulzberger syndrome	Bloch-Sulzberger syndrome
EFO:1000755	EFO:1000672	\N	"a group of diseases affecting the color of skin" []	EFO:1000672	"a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system." []	212729	\N	\N	EFO	1	EFO	pigmentation disease	Bloch-Sulzberger syndrome
EFO:0000701	EFO:1000755	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000672	"a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system." []	566446	\N	\N	EFO	2	EFO	skin disease	Bloch-Sulzberger syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000672	"a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system." []	1147851	\N	\N	EFO	3	EFO	disease	Bloch-Sulzberger syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000672	"a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system." []	2030137	\N	\N	EFO	4	EFO	disposition	Bloch-Sulzberger syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000672	"a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system." []	3180830	\N	\N	EFO	5	EFO	material property	Bloch-Sulzberger syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000672	"a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system." []	4389421	\N	\N	EFO	6	EFO	experimental factor	Bloch-Sulzberger syndrome
EFO:1000673	\N	\N	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	EFO:1000673	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	70261	\N	\N	EFO	0	EFO	bullous skin disease	bullous skin disease
EFO:0000701	EFO:1000673	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000673	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	212730	\N	\N	EFO	1	EFO	skin disease	bullous skin disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000673	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	566447	\N	\N	EFO	2	EFO	disease	bullous skin disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000673	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	1147852	\N	\N	EFO	3	EFO	disposition	bullous skin disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000673	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	2030138	\N	\N	EFO	4	EFO	material property	bullous skin disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000673	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	3180831	\N	\N	EFO	5	EFO	experimental factor	bullous skin disease
EFO:1000674	\N	\N	"a cluster of boils, draining pus onto the skin. It is usually caused by bacterial infection, most commonly with Staphylococcus aureusorStreptococcus pyogenes, which can turn lethal. However, the presence of a carbuncle is actually a sign that the immune system is working.[1] The infection is contagious and may spread to other areas of the body, or other people; those living in the same residence may develop carbuncles at the same time." []	EFO:1000674	"a cluster of boils, draining pus onto the skin. It is usually caused by bacterial infection, most commonly with Staphylococcus aureusorStreptococcus pyogenes, which can turn lethal. However, the presence of a carbuncle is actually a sign that the immune system is working.[1] The infection is contagious and may spread to other areas of the body, or other people; those living in the same residence may develop carbuncles at the same time." []	70262	\N	\N	EFO	0	EFO	carbuncle	carbuncle
HP:0000999	\N	\N	"Any manifestation of a skin disease associated with the production of pus." [HPO:probinson]	EFO:1000674	"a cluster of boils, draining pus onto the skin. It is usually caused by bacterial infection, most commonly with Staphylococcus aureusorStreptococcus pyogenes, which can turn lethal. However, the presence of a carbuncle is actually a sign that the immune system is working.[1] The infection is contagious and may spread to other areas of the body, or other people; those living in the same residence may develop carbuncles at the same time." []	194943	\N	\N	EFO	0	EFO	Pyoderma	carbuncle
EFO:1000675	\N	\N	"A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." []	EFO:1000675	"A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." []	70263	\N	\N	EFO	0	EFO	cholesteatoma	cholesteatoma
EFO:1000720	EFO:1000675	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000675	"A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." []	212731	\N	\N	EFO	1	EFO	keratosis	cholesteatoma
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000675	"A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." []	566448	\N	\N	EFO	2	EFO	skin disease	cholesteatoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000675	"A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." []	1147853	\N	\N	EFO	3	EFO	disease	cholesteatoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000675	"A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." []	2030139	\N	\N	EFO	4	EFO	disposition	cholesteatoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000675	"A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." []	3180832	\N	\N	EFO	5	EFO	material property	cholesteatoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000675	"A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." []	4389422	\N	\N	EFO	6	EFO	experimental factor	cholesteatoma
EFO:1000676	\N	\N	"a cholesteatoma in the attic" []	EFO:1000676	"a cholesteatoma in the attic" []	70264	\N	\N	EFO	0	EFO	cholesteatoma of attic	cholesteatoma of attic
EFO:1000678	EFO:1000676	\N	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	EFO:1000676	"a cholesteatoma in the attic" []	212732	\N	\N	EFO	1	EFO	cholesteatoma of middle ear	cholesteatoma of attic
EFO:1000675	EFO:1000678	\N	"A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." []	EFO:1000676	"a cholesteatoma in the attic" []	566449	\N	\N	EFO	2	EFO	cholesteatoma	cholesteatoma of attic
EFO:1001455	EFO:1000678	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:1000676	"a cholesteatoma in the attic" []	566450	\N	\N	EFO	2	EFO	auditory system disease	cholesteatoma of attic
EFO:1000720	EFO:1000675	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000676	"a cholesteatoma in the attic" []	1147854	\N	\N	EFO	3	EFO	keratosis	cholesteatoma of attic
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1000676	"a cholesteatoma in the attic" []	1147855	\N	\N	EFO	3	EFO	sensory system disease	cholesteatoma of attic
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000676	"a cholesteatoma in the attic" []	2030140	\N	\N	EFO	4	EFO	skin disease	cholesteatoma of attic
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000676	"a cholesteatoma in the attic" []	2030141	\N	\N	EFO	4	EFO	nervous system disease	cholesteatoma of attic
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000676	"a cholesteatoma in the attic" []	3180833	\N	\N	EFO	5	EFO	disease	cholesteatoma of attic
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000676	"a cholesteatoma in the attic" []	3180834	\N	\N	EFO	5	EFO	disease	cholesteatoma of attic
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000676	"a cholesteatoma in the attic" []	4389423	\N	\N	EFO	6	EFO	disposition	cholesteatoma of attic
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000676	"a cholesteatoma in the attic" []	5409296	\N	\N	EFO	7	EFO	material property	cholesteatoma of attic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000676	"a cholesteatoma in the attic" []	6147621	\N	\N	EFO	8	EFO	experimental factor	cholesteatoma of attic
EFO:1000677	\N	\N	"A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery." []	EFO:1000677	"A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery." []	70265	\N	\N	EFO	0	EFO	cholesteatoma of external ear	cholesteatoma of external ear
EFO:1000675	EFO:1000677	\N	"A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." []	EFO:1000677	"A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery." []	212733	\N	\N	EFO	1	EFO	cholesteatoma	cholesteatoma of external ear
EFO:1000720	EFO:1000675	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000677	"A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery." []	566451	\N	\N	EFO	2	EFO	keratosis	cholesteatoma of external ear
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000677	"A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery." []	1147856	\N	\N	EFO	3	EFO	skin disease	cholesteatoma of external ear
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000677	"A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery." []	2030142	\N	\N	EFO	4	EFO	disease	cholesteatoma of external ear
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000677	"A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery." []	3180835	\N	\N	EFO	5	EFO	disposition	cholesteatoma of external ear
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000677	"A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery." []	4389424	\N	\N	EFO	6	EFO	material property	cholesteatoma of external ear
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000677	"A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery." []	5409297	\N	\N	EFO	7	EFO	experimental factor	cholesteatoma of external ear
EFO:1000678	\N	\N	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	EFO:1000678	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	70266	\N	\N	EFO	0	EFO	cholesteatoma of middle ear	cholesteatoma of middle ear
EFO:1000675	EFO:1000678	\N	"A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." []	EFO:1000678	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	212734	\N	\N	EFO	1	EFO	cholesteatoma	cholesteatoma of middle ear
EFO:1001455	EFO:1000678	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:1000678	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	212735	\N	\N	EFO	1	EFO	auditory system disease	cholesteatoma of middle ear
EFO:1000720	EFO:1000675	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000678	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	566452	\N	\N	EFO	2	EFO	keratosis	cholesteatoma of middle ear
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1000678	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	566453	\N	\N	EFO	2	EFO	sensory system disease	cholesteatoma of middle ear
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000678	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	1147857	\N	\N	EFO	3	EFO	skin disease	cholesteatoma of middle ear
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000678	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	1147858	\N	\N	EFO	3	EFO	nervous system disease	cholesteatoma of middle ear
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000678	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	2030143	\N	\N	EFO	4	EFO	disease	cholesteatoma of middle ear
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000678	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	2030144	\N	\N	EFO	4	EFO	disease	cholesteatoma of middle ear
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000678	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	3180836	\N	\N	EFO	5	EFO	disposition	cholesteatoma of middle ear
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000678	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	4389425	\N	\N	EFO	6	EFO	material property	cholesteatoma of middle ear
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000678	"A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\	" []	5409298	\N	\N	EFO	7	EFO	experimental factor	cholesteatoma of middle ear
EFO:1000679	\N	\N	"a type of physical urticarias (or hives) that appears when a person is sweating." []	EFO:1000679	"a type of physical urticarias (or hives) that appears when a person is sweating." []	70267	\N	\N	EFO	0	EFO	cholinergic urticaria	cholinergic urticaria
EFO:1000754	EFO:1000679	\N	"An urticaria induced by external physical influences." []	EFO:1000679	"a type of physical urticarias (or hives) that appears when a person is sweating." []	212736	\N	\N	EFO	1	EFO	physical urticaria	cholinergic urticaria
EFO:0005531	EFO:1000754	\N	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	EFO:1000679	"a type of physical urticarias (or hives) that appears when a person is sweating." []	566454	\N	\N	EFO	2	EFO	urticaria	cholinergic urticaria
EFO:0000701	EFO:0005531	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000679	"a type of physical urticarias (or hives) that appears when a person is sweating." []	1147859	\N	\N	EFO	3	EFO	skin disease	cholinergic urticaria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000679	"a type of physical urticarias (or hives) that appears when a person is sweating." []	2030145	\N	\N	EFO	4	EFO	disease	cholinergic urticaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000679	"a type of physical urticarias (or hives) that appears when a person is sweating." []	3180837	\N	\N	EFO	5	EFO	disposition	cholinergic urticaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000679	"a type of physical urticarias (or hives) that appears when a person is sweating." []	4389426	\N	\N	EFO	6	EFO	material property	cholinergic urticaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000679	"a type of physical urticarias (or hives) that appears when a person is sweating." []	5409299	\N	\N	EFO	7	EFO	experimental factor	cholinergic urticaria
EFO:1000680	\N	\N	"A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." []	EFO:1000680	"A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." []	70268	\N	\N	EFO	0	EFO	cicatricial pemphigoid	cicatricial pemphigoid
EFO:1000673	EFO:1000680	\N	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	EFO:1000680	"A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." []	212737	\N	\N	EFO	1	EFO	bullous skin disease	cicatricial pemphigoid
EFO:0000701	EFO:1000673	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000680	"A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." []	566455	\N	\N	EFO	2	EFO	skin disease	cicatricial pemphigoid
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000680	"A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." []	1147860	\N	\N	EFO	3	EFO	disease	cicatricial pemphigoid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000680	"A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." []	2030146	\N	\N	EFO	4	EFO	disposition	cicatricial pemphigoid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000680	"A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." []	3180838	\N	\N	EFO	5	EFO	material property	cicatricial pemphigoid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000680	"A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." []	4389427	\N	\N	EFO	6	EFO	experimental factor	cicatricial pemphigoid
EFO:1000681	\N	\N	"a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems." []	EFO:1000681	"a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems." []	70269	\N	\N	EFO	0	EFO	congenital generalized lipodystrophy	congenital generalized lipodystrophy
EFO:1000727	EFO:1000681	\N	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	EFO:1000681	"a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems." []	212738	\N	\N	EFO	1	EFO	lipodystrophy	congenital generalized lipodystrophy
EFO:0000701	EFO:1000727	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000681	"a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems." []	566456	\N	\N	EFO	2	EFO	skin disease	congenital generalized lipodystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000681	"a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems." []	1147861	\N	\N	EFO	3	EFO	disease	congenital generalized lipodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000681	"a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems." []	2030147	\N	\N	EFO	4	EFO	disposition	congenital generalized lipodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000681	"a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems." []	3180839	\N	\N	EFO	5	EFO	material property	congenital generalized lipodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000681	"a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems." []	4389428	\N	\N	EFO	6	EFO	experimental factor	congenital generalized lipodystrophy
EFO:1000682	\N	\N	"Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." []	EFO:1000682	"Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." []	70270	\N	\N	EFO	0	EFO	conjunctival pigmentation	conjunctival pigmentation
EFO:1000755	EFO:1000682	\N	"a group of diseases affecting the color of skin" []	EFO:1000682	"Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." []	212739	\N	\N	EFO	1	EFO	pigmentation disease	conjunctival pigmentation
EFO:0000701	EFO:1000755	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000682	"Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." []	566457	\N	\N	EFO	2	EFO	skin disease	conjunctival pigmentation
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000682	"Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." []	1147862	\N	\N	EFO	3	EFO	disease	conjunctival pigmentation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000682	"Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." []	2030148	\N	\N	EFO	4	EFO	disposition	conjunctival pigmentation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000682	"Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." []	3180840	\N	\N	EFO	5	EFO	material property	conjunctival pigmentation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000682	"Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." []	4389429	\N	\N	EFO	6	EFO	experimental factor	conjunctival pigmentation
EFO:1000683	\N	\N	"A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin." []	EFO:1000683	"A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin." []	70271	\N	\N	EFO	0	EFO	cutaneous diphtheria	cutaneous diphtheria
HP:0000999	\N	\N	"Any manifestation of a skin disease associated with the production of pus." [HPO:probinson]	EFO:1000683	"A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin." []	194944	\N	\N	EFO	0	EFO	Pyoderma	cutaneous diphtheria
EFO:1000684	\N	\N	"a chronic blistering skin condition, characterised by blisters filled with a watery fluid. Despite its name, DH is neither related to nor caused by herpes virus: the name means that it is a skin inflammation having an appearance similar to herpes." []	EFO:1000684	"a chronic blistering skin condition, characterised by blisters filled with a watery fluid. Despite its name, DH is neither related to nor caused by herpes virus: the name means that it is a skin inflammation having an appearance similar to herpes." []	70272	\N	\N	EFO	0	EFO	dermatitis herpetiformis	dermatitis herpetiformis
EFO:1000673	EFO:1000684	\N	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	EFO:1000684	"a chronic blistering skin condition, characterised by blisters filled with a watery fluid. Despite its name, DH is neither related to nor caused by herpes virus: the name means that it is a skin inflammation having an appearance similar to herpes." []	212740	\N	\N	EFO	1	EFO	bullous skin disease	dermatitis herpetiformis
EFO:0000701	EFO:1000673	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000684	"a chronic blistering skin condition, characterised by blisters filled with a watery fluid. Despite its name, DH is neither related to nor caused by herpes virus: the name means that it is a skin inflammation having an appearance similar to herpes." []	566458	\N	\N	EFO	2	EFO	skin disease	dermatitis herpetiformis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000684	"a chronic blistering skin condition, characterised by blisters filled with a watery fluid. Despite its name, DH is neither related to nor caused by herpes virus: the name means that it is a skin inflammation having an appearance similar to herpes." []	1147863	\N	\N	EFO	3	EFO	disease	dermatitis herpetiformis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000684	"a chronic blistering skin condition, characterised by blisters filled with a watery fluid. Despite its name, DH is neither related to nor caused by herpes virus: the name means that it is a skin inflammation having an appearance similar to herpes." []	2030149	\N	\N	EFO	4	EFO	disposition	dermatitis herpetiformis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000684	"a chronic blistering skin condition, characterised by blisters filled with a watery fluid. Despite its name, DH is neither related to nor caused by herpes virus: the name means that it is a skin inflammation having an appearance similar to herpes." []	3180841	\N	\N	EFO	5	EFO	material property	dermatitis herpetiformis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000684	"a chronic blistering skin condition, characterised by blisters filled with a watery fluid. Despite its name, DH is neither related to nor caused by herpes virus: the name means that it is a skin inflammation having an appearance similar to herpes." []	4389430	\N	\N	EFO	6	EFO	experimental factor	dermatitis herpetiformis
EFO:1000685	\N	\N	"An urticaria induced by stroking of the skin." []	EFO:1000685	"An urticaria induced by stroking of the skin." []	70273	\N	\N	EFO	0	EFO	dermatographia	dermatographia
EFO:1000754	EFO:1000685	\N	"An urticaria induced by external physical influences." []	EFO:1000685	"An urticaria induced by stroking of the skin." []	212741	\N	\N	EFO	1	EFO	physical urticaria	dermatographia
EFO:0005531	EFO:1000754	\N	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	EFO:1000685	"An urticaria induced by stroking of the skin." []	566459	\N	\N	EFO	2	EFO	urticaria	dermatographia
EFO:0000701	EFO:0005531	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000685	"An urticaria induced by stroking of the skin." []	1147864	\N	\N	EFO	3	EFO	skin disease	dermatographia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000685	"An urticaria induced by stroking of the skin." []	2030150	\N	\N	EFO	4	EFO	disease	dermatographia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000685	"An urticaria induced by stroking of the skin." []	3180842	\N	\N	EFO	5	EFO	disposition	dermatographia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000685	"An urticaria induced by stroking of the skin." []	4389431	\N	\N	EFO	6	EFO	material property	dermatographia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000685	"An urticaria induced by stroking of the skin." []	5409300	\N	\N	EFO	7	EFO	experimental factor	dermatographia
EFO:1000686	\N	\N	"a condition of many small, benign skin lesions on the face, a condition generally presenting on dark-skinned individuals." []	EFO:1000686	"a condition of many small, benign skin lesions on the face, a condition generally presenting on dark-skinned individuals." []	70274	\N	\N	EFO	0	EFO	dermatosis papulosa nigra	dermatosis papulosa nigra
EFO:0000701	EFO:1000686	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000686	"a condition of many small, benign skin lesions on the face, a condition generally presenting on dark-skinned individuals." []	212742	\N	\N	EFO	1	EFO	skin disease	dermatosis papulosa nigra
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000686	"a condition of many small, benign skin lesions on the face, a condition generally presenting on dark-skinned individuals." []	566460	\N	\N	EFO	2	EFO	disease	dermatosis papulosa nigra
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000686	"a condition of many small, benign skin lesions on the face, a condition generally presenting on dark-skinned individuals." []	1147865	\N	\N	EFO	3	EFO	disposition	dermatosis papulosa nigra
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000686	"a condition of many small, benign skin lesions on the face, a condition generally presenting on dark-skinned individuals." []	2030151	\N	\N	EFO	4	EFO	material property	dermatosis papulosa nigra
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000686	"a condition of many small, benign skin lesions on the face, a condition generally presenting on dark-skinned individuals." []	3180843	\N	\N	EFO	5	EFO	experimental factor	dermatosis papulosa nigra
EFO:1000687	\N	\N	"diffuse overgrowth of mature fat usually involves a large region of an extremity or trunk, of age usually under 2 years. It involves muscle and subcutaneous tissue, but not nerves and can recure frequently" []	EFO:1000687	"diffuse overgrowth of mature fat usually involves a large region of an extremity or trunk, of age usually under 2 years. It involves muscle and subcutaneous tissue, but not nerves and can recure frequently" []	70275	\N	\N	EFO	0	EFO	diffuse lipomatosis	diffuse lipomatosis
EFO:1000728	EFO:1000687	\N	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	EFO:1000687	"diffuse overgrowth of mature fat usually involves a large region of an extremity or trunk, of age usually under 2 years. It involves muscle and subcutaneous tissue, but not nerves and can recure frequently" []	212743	\N	\N	EFO	1	EFO	lipomatosis	diffuse lipomatosis
EFO:0000701	EFO:1000728	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000687	"diffuse overgrowth of mature fat usually involves a large region of an extremity or trunk, of age usually under 2 years. It involves muscle and subcutaneous tissue, but not nerves and can recure frequently" []	566461	\N	\N	EFO	2	EFO	skin disease	diffuse lipomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000687	"diffuse overgrowth of mature fat usually involves a large region of an extremity or trunk, of age usually under 2 years. It involves muscle and subcutaneous tissue, but not nerves and can recure frequently" []	1147866	\N	\N	EFO	3	EFO	disease	diffuse lipomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000687	"diffuse overgrowth of mature fat usually involves a large region of an extremity or trunk, of age usually under 2 years. It involves muscle and subcutaneous tissue, but not nerves and can recure frequently" []	2030152	\N	\N	EFO	4	EFO	disposition	diffuse lipomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000687	"diffuse overgrowth of mature fat usually involves a large region of an extremity or trunk, of age usually under 2 years. It involves muscle and subcutaneous tissue, but not nerves and can recure frequently" []	3180844	\N	\N	EFO	5	EFO	material property	diffuse lipomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000687	"diffuse overgrowth of mature fat usually involves a large region of an extremity or trunk, of age usually under 2 years. It involves muscle and subcutaneous tissue, but not nerves and can recure frequently" []	4389432	\N	\N	EFO	6	EFO	experimental factor	diffuse lipomatosis
EFO:1000688	\N	\N	"a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress" []	EFO:1000688	"a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress" []	70276	\N	\N	EFO	0	EFO	dyshidrosis	dyshidrosis
EFO:1000772	EFO:1000688	\N	"disorders or sweat glands" []	EFO:1000688	"a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress" []	212744	\N	\N	EFO	1	EFO	sweat gland disease	dyshidrosis
EFO:0000701	EFO:1000772	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000688	"a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress" []	566462	\N	\N	EFO	2	EFO	skin disease	dyshidrosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000688	"a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress" []	1147867	\N	\N	EFO	3	EFO	disease	dyshidrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000688	"a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress" []	2030153	\N	\N	EFO	4	EFO	disposition	dyshidrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000688	"a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress" []	3180845	\N	\N	EFO	5	EFO	material property	dyshidrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000688	"a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress" []	4389433	\N	\N	EFO	6	EFO	experimental factor	dyshidrosis
EFO:1000689	\N	\N	"a skin infection characterised by crusted sores beneath which ulcers form. It is a deep form of impetigo, as the same bacteria causing the infection are involved. Ecthyma causes deeper erosions of the skin into the dermis." []	EFO:1000689	"a skin infection characterised by crusted sores beneath which ulcers form. It is a deep form of impetigo, as the same bacteria causing the infection are involved. Ecthyma causes deeper erosions of the skin into the dermis." []	70277	\N	\N	EFO	0	EFO	ecthyma	ecthyma
EFO:1000714	EFO:1000689	\N	"A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous." []	EFO:1000689	"a skin infection characterised by crusted sores beneath which ulcers form. It is a deep form of impetigo, as the same bacteria causing the infection are involved. Ecthyma causes deeper erosions of the skin into the dermis." []	212745	\N	\N	EFO	1	EFO	impetigo	ecthyma
EFO:1000690	\N	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	EFO:1000690	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	70278	\N	\N	EFO	0	EFO	epidermolysis bullosa	epidermolysis bullosa
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	EFO:1000690	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	212746	\N	\N	EFO	1	EFO	vesiculobullous skin disease	epidermolysis bullosa
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000690	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	566463	\N	\N	EFO	2	EFO	skin disease	epidermolysis bullosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000690	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	1147868	\N	\N	EFO	3	EFO	disease	epidermolysis bullosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000690	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	2030154	\N	\N	EFO	4	EFO	disposition	epidermolysis bullosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000690	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	3180846	\N	\N	EFO	5	EFO	material property	epidermolysis bullosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000690	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	4389434	\N	\N	EFO	6	EFO	experimental factor	epidermolysis bullosa
EFO:1000691	\N	\N	"epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." []	EFO:1000691	"epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." []	70279	\N	\N	EFO	0	EFO	epidermolysis bullosa acquisita	epidermolysis bullosa acquisita
EFO:1000690	EFO:1000691	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	EFO:1000691	"epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." []	212747	\N	\N	EFO	1	EFO	epidermolysis bullosa	epidermolysis bullosa acquisita
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	EFO:1000691	"epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." []	566464	\N	\N	EFO	2	EFO	vesiculobullous skin disease	epidermolysis bullosa acquisita
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000691	"epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." []	1147869	\N	\N	EFO	3	EFO	skin disease	epidermolysis bullosa acquisita
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000691	"epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." []	2030155	\N	\N	EFO	4	EFO	disease	epidermolysis bullosa acquisita
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000691	"epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." []	3180847	\N	\N	EFO	5	EFO	disposition	epidermolysis bullosa acquisita
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000691	"epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." []	4389435	\N	\N	EFO	6	EFO	material property	epidermolysis bullosa acquisita
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000691	"epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." []	5409301	\N	\N	EFO	7	EFO	experimental factor	epidermolysis bullosa acquisita
EFO:1000692	\N	\N	"an inherited disease affecting the skin and other organs. \\"Butterfly children\\" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly." []	EFO:1000692	"an inherited disease affecting the skin and other organs. \\"Butterfly children\\" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly." []	70280	\N	\N	EFO	0	EFO	epidermolysis bullosa dystrophica	epidermolysis bullosa dystrophica
EFO:1000690	EFO:1000692	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	EFO:1000692	"an inherited disease affecting the skin and other organs. \\"Butterfly children\\" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly." []	212748	\N	\N	EFO	1	EFO	epidermolysis bullosa	epidermolysis bullosa dystrophica
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	EFO:1000692	"an inherited disease affecting the skin and other organs. \\"Butterfly children\\" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly." []	566465	\N	\N	EFO	2	EFO	vesiculobullous skin disease	epidermolysis bullosa dystrophica
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000692	"an inherited disease affecting the skin and other organs. \\"Butterfly children\\" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly." []	1147870	\N	\N	EFO	3	EFO	skin disease	epidermolysis bullosa dystrophica
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000692	"an inherited disease affecting the skin and other organs. \\"Butterfly children\\" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly." []	2030156	\N	\N	EFO	4	EFO	disease	epidermolysis bullosa dystrophica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000692	"an inherited disease affecting the skin and other organs. \\"Butterfly children\\" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly." []	3180848	\N	\N	EFO	5	EFO	disposition	epidermolysis bullosa dystrophica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000692	"an inherited disease affecting the skin and other organs. \\"Butterfly children\\" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly." []	4389436	\N	\N	EFO	6	EFO	material property	epidermolysis bullosa dystrophica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000692	"an inherited disease affecting the skin and other organs. \\"Butterfly children\\" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly." []	5409302	\N	\N	EFO	7	EFO	experimental factor	epidermolysis bullosa dystrophica
EFO:1000693	\N	\N	"usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus." []	EFO:1000693	"usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus." []	70281	\N	\N	EFO	0	EFO	erythema infectiosum	erythema infectiosum
EFO:1000776	EFO:1000693	\N	"a virus-induced exanthem" []	EFO:1000693	"usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus." []	212749	\N	\N	EFO	1	EFO	viral exanthem	erythema infectiosum
EFO:1000697	EFO:1000776	\N	"a widespread rash usually occurring in children but can occur in adults. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease. It can be contrasted with an enanthem." []	EFO:1000693	"usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus." []	566466	\N	\N	EFO	2	EFO	exanthem	erythema infectiosum
EFO:0000701	EFO:1000697	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000693	"usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus." []	1147871	\N	\N	EFO	3	EFO	skin disease	erythema infectiosum
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000693	"usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus." []	2030157	\N	\N	EFO	4	EFO	disease	erythema infectiosum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000693	"usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus." []	3180849	\N	\N	EFO	5	EFO	disposition	erythema infectiosum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000693	"usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus." []	4389437	\N	\N	EFO	6	EFO	material property	erythema infectiosum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000693	"usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus." []	5409303	\N	\N	EFO	7	EFO	experimental factor	erythema infectiosum
EFO:1000694	\N	\N	"A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness." []	EFO:1000694	"A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness." []	70282	\N	\N	EFO	0	EFO	erythema multiforme	erythema multiforme
EFO:0000701	EFO:1000694	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000694	"A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness." []	212750	\N	\N	EFO	1	EFO	skin disease	erythema multiforme
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000694	"A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness." []	566467	\N	\N	EFO	2	EFO	disease	erythema multiforme
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000694	"A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness." []	1147872	\N	\N	EFO	3	EFO	disposition	erythema multiforme
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000694	"A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness." []	2030158	\N	\N	EFO	4	EFO	material property	erythema multiforme
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000694	"A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness." []	3180850	\N	\N	EFO	5	EFO	experimental factor	erythema multiforme
EFO:1000695	\N	\N	"Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance." []	EFO:1000695	"Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance." []	70283	\N	\N	EFO	0	EFO	erythematosquamous dermatosis	erythematosquamous dermatosis
EFO:0000701	EFO:1000695	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000695	"Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance." []	212751	\N	\N	EFO	1	EFO	skin disease	erythematosquamous dermatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000695	"Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance." []	566468	\N	\N	EFO	2	EFO	disease	erythematosquamous dermatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000695	"Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance." []	1147873	\N	\N	EFO	3	EFO	disposition	erythematosquamous dermatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000695	"Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance." []	2030159	\N	\N	EFO	4	EFO	material property	erythematosquamous dermatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000695	"Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance." []	3180851	\N	\N	EFO	5	EFO	experimental factor	erythematosquamous dermatosis
EFO:1000696	\N	\N	"a skin disease that causes brown, scaly skin patches. It is caused by the Gram-positive bacterium Corynebacterium minutissimum. It is prevalent among diabetics and the obese, and in warm climates; it is worsened by wearing occlusive clothing." []	EFO:1000696	"a skin disease that causes brown, scaly skin patches. It is caused by the Gram-positive bacterium Corynebacterium minutissimum. It is prevalent among diabetics and the obese, and in warm climates; it is worsened by wearing occlusive clothing." []	70284	\N	\N	EFO	0	EFO	erythrasma	erythrasma
HP:0000999	\N	\N	"Any manifestation of a skin disease associated with the production of pus." [HPO:probinson]	EFO:1000696	"a skin disease that causes brown, scaly skin patches. It is caused by the Gram-positive bacterium Corynebacterium minutissimum. It is prevalent among diabetics and the obese, and in warm climates; it is worsened by wearing occlusive clothing." []	194945	\N	\N	EFO	0	EFO	Pyoderma	erythrasma
EFO:1000697	\N	\N	"a widespread rash usually occurring in children but can occur in adults. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease. It can be contrasted with an enanthem." []	EFO:1000697	"a widespread rash usually occurring in children but can occur in adults. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease. It can be contrasted with an enanthem." []	70285	\N	\N	EFO	0	EFO	exanthem	exanthem
EFO:0000701	EFO:1000697	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000697	"a widespread rash usually occurring in children but can occur in adults. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease. It can be contrasted with an enanthem." []	212752	\N	\N	EFO	1	EFO	skin disease	exanthem
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000697	"a widespread rash usually occurring in children but can occur in adults. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease. It can be contrasted with an enanthem." []	566469	\N	\N	EFO	2	EFO	disease	exanthem
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000697	"a widespread rash usually occurring in children but can occur in adults. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease. It can be contrasted with an enanthem." []	1147874	\N	\N	EFO	3	EFO	disposition	exanthem
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000697	"a widespread rash usually occurring in children but can occur in adults. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease. It can be contrasted with an enanthem." []	2030160	\N	\N	EFO	4	EFO	material property	exanthem
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000697	"a widespread rash usually occurring in children but can occur in adults. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease. It can be contrasted with an enanthem." []	3180852	\N	\N	EFO	5	EFO	experimental factor	exanthem
EFO:1000698	\N	\N	"Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." []	EFO:1000698	"Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." []	70286	\N	\N	EFO	0	EFO	facial dermatosis	facial dermatosis
EFO:0000701	EFO:1000698	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000698	"Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." []	212753	\N	\N	EFO	1	EFO	skin disease	facial dermatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000698	"Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." []	566470	\N	\N	EFO	2	EFO	disease	facial dermatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000698	"Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." []	1147875	\N	\N	EFO	3	EFO	disposition	facial dermatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000698	"Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." []	2030161	\N	\N	EFO	4	EFO	material property	facial dermatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000698	"Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." []	3180853	\N	\N	EFO	5	EFO	experimental factor	facial dermatosis
EFO:1000699	\N	\N	"Also called fibrous polyp or anal tag, this is one of the most frequent anal lesions and is found at the dentate line, anal mucosa or in the perianal skin ? . Fibroepithelial polyps may be associated with local inflammation such as fissure or fistula ? . Granulomas can be found in about one third of skin tags in cases of Crohn disease ? . Others may represent the end stage of a thrombosed haemorrhoid, but remnants of haemorrhoidal vessels or signs of previous bleeding are rarely found. Most are probably of idiopathic nature as the incidence is rather similar in patients with or without anal diseases. Grossly, the polyp is spherical or elongated with a greater diameter ranging from a few millimetres up to 4 cm. The surface is white or grey and may show superficial ulceration. Histologically, it consists of a fibrous stroma covered by squamous epithelium, which usually is a slightly hyperplastic and may be keratinized. The stroma may be more or less dense and often contains fibroblastic cells with two or more nuclei and a considerable number of mast cells ? . Neuronal hyperplasia is a common feature." []	EFO:1000699	"Also called fibrous polyp or anal tag, this is one of the most frequent anal lesions and is found at the dentate line, anal mucosa or in the perianal skin ? . Fibroepithelial polyps may be associated with local inflammation such as fissure or fistula ? . Granulomas can be found in about one third of skin tags in cases of Crohn disease ? . Others may represent the end stage of a thrombosed haemorrhoid, but remnants of haemorrhoidal vessels or signs of previous bleeding are rarely found. Most are probably of idiopathic nature as the incidence is rather similar in patients with or without anal diseases. Grossly, the polyp is spherical or elongated with a greater diameter ranging from a few millimetres up to 4 cm. The surface is white or grey and may show superficial ulceration. Histologically, it consists of a fibrous stroma covered by squamous epithelium, which usually is a slightly hyperplastic and may be keratinized. The stroma may be more or less dense and often contains fibroblastic cells with two or more nuclei and a considerable number of mast cells ? . Neuronal hyperplasia is a common feature." []	70287	\N	\N	EFO	0	EFO	fibroepithelial polyp of the anus	fibroepithelial polyp of the anus
EFO:0000662	EFO:1000699	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000699	"Also called fibrous polyp or anal tag, this is one of the most frequent anal lesions and is found at the dentate line, anal mucosa or in the perianal skin ? . Fibroepithelial polyps may be associated with local inflammation such as fissure or fistula ? . Granulomas can be found in about one third of skin tags in cases of Crohn disease ? . Others may represent the end stage of a thrombosed haemorrhoid, but remnants of haemorrhoidal vessels or signs of previous bleeding are rarely found. Most are probably of idiopathic nature as the incidence is rather similar in patients with or without anal diseases. Grossly, the polyp is spherical or elongated with a greater diameter ranging from a few millimetres up to 4 cm. The surface is white or grey and may show superficial ulceration. Histologically, it consists of a fibrous stroma covered by squamous epithelium, which usually is a slightly hyperplastic and may be keratinized. The stroma may be more or less dense and often contains fibroblastic cells with two or more nuclei and a considerable number of mast cells ? . Neuronal hyperplasia is a common feature." []	212754	\N	\N	EFO	1	EFO	polyp	fibroepithelial polyp of the anus
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000699	"Also called fibrous polyp or anal tag, this is one of the most frequent anal lesions and is found at the dentate line, anal mucosa or in the perianal skin ? . Fibroepithelial polyps may be associated with local inflammation such as fissure or fistula ? . Granulomas can be found in about one third of skin tags in cases of Crohn disease ? . Others may represent the end stage of a thrombosed haemorrhoid, but remnants of haemorrhoidal vessels or signs of previous bleeding are rarely found. Most are probably of idiopathic nature as the incidence is rather similar in patients with or without anal diseases. Grossly, the polyp is spherical or elongated with a greater diameter ranging from a few millimetres up to 4 cm. The surface is white or grey and may show superficial ulceration. Histologically, it consists of a fibrous stroma covered by squamous epithelium, which usually is a slightly hyperplastic and may be keratinized. The stroma may be more or less dense and often contains fibroblastic cells with two or more nuclei and a considerable number of mast cells ? . Neuronal hyperplasia is a common feature." []	566471	\N	\N	EFO	2	EFO	neoplasm	fibroepithelial polyp of the anus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000699	"Also called fibrous polyp or anal tag, this is one of the most frequent anal lesions and is found at the dentate line, anal mucosa or in the perianal skin ? . Fibroepithelial polyps may be associated with local inflammation such as fissure or fistula ? . Granulomas can be found in about one third of skin tags in cases of Crohn disease ? . Others may represent the end stage of a thrombosed haemorrhoid, but remnants of haemorrhoidal vessels or signs of previous bleeding are rarely found. Most are probably of idiopathic nature as the incidence is rather similar in patients with or without anal diseases. Grossly, the polyp is spherical or elongated with a greater diameter ranging from a few millimetres up to 4 cm. The surface is white or grey and may show superficial ulceration. Histologically, it consists of a fibrous stroma covered by squamous epithelium, which usually is a slightly hyperplastic and may be keratinized. The stroma may be more or less dense and often contains fibroblastic cells with two or more nuclei and a considerable number of mast cells ? . Neuronal hyperplasia is a common feature." []	1147876	\N	\N	EFO	3	EFO	disease	fibroepithelial polyp of the anus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000699	"Also called fibrous polyp or anal tag, this is one of the most frequent anal lesions and is found at the dentate line, anal mucosa or in the perianal skin ? . Fibroepithelial polyps may be associated with local inflammation such as fissure or fistula ? . Granulomas can be found in about one third of skin tags in cases of Crohn disease ? . Others may represent the end stage of a thrombosed haemorrhoid, but remnants of haemorrhoidal vessels or signs of previous bleeding are rarely found. Most are probably of idiopathic nature as the incidence is rather similar in patients with or without anal diseases. Grossly, the polyp is spherical or elongated with a greater diameter ranging from a few millimetres up to 4 cm. The surface is white or grey and may show superficial ulceration. Histologically, it consists of a fibrous stroma covered by squamous epithelium, which usually is a slightly hyperplastic and may be keratinized. The stroma may be more or less dense and often contains fibroblastic cells with two or more nuclei and a considerable number of mast cells ? . Neuronal hyperplasia is a common feature." []	2030162	\N	\N	EFO	4	EFO	disposition	fibroepithelial polyp of the anus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000699	"Also called fibrous polyp or anal tag, this is one of the most frequent anal lesions and is found at the dentate line, anal mucosa or in the perianal skin ? . Fibroepithelial polyps may be associated with local inflammation such as fissure or fistula ? . Granulomas can be found in about one third of skin tags in cases of Crohn disease ? . Others may represent the end stage of a thrombosed haemorrhoid, but remnants of haemorrhoidal vessels or signs of previous bleeding are rarely found. Most are probably of idiopathic nature as the incidence is rather similar in patients with or without anal diseases. Grossly, the polyp is spherical or elongated with a greater diameter ranging from a few millimetres up to 4 cm. The surface is white or grey and may show superficial ulceration. Histologically, it consists of a fibrous stroma covered by squamous epithelium, which usually is a slightly hyperplastic and may be keratinized. The stroma may be more or less dense and often contains fibroblastic cells with two or more nuclei and a considerable number of mast cells ? . Neuronal hyperplasia is a common feature." []	3180854	\N	\N	EFO	5	EFO	material property	fibroepithelial polyp of the anus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000699	"Also called fibrous polyp or anal tag, this is one of the most frequent anal lesions and is found at the dentate line, anal mucosa or in the perianal skin ? . Fibroepithelial polyps may be associated with local inflammation such as fissure or fistula ? . Granulomas can be found in about one third of skin tags in cases of Crohn disease ? . Others may represent the end stage of a thrombosed haemorrhoid, but remnants of haemorrhoidal vessels or signs of previous bleeding are rarely found. Most are probably of idiopathic nature as the incidence is rather similar in patients with or without anal diseases. Grossly, the polyp is spherical or elongated with a greater diameter ranging from a few millimetres up to 4 cm. The surface is white or grey and may show superficial ulceration. Histologically, it consists of a fibrous stroma covered by squamous epithelium, which usually is a slightly hyperplastic and may be keratinized. The stroma may be more or less dense and often contains fibroblastic cells with two or more nuclei and a considerable number of mast cells ? . Neuronal hyperplasia is a common feature." []	4389438	\N	\N	EFO	6	EFO	experimental factor	fibroepithelial polyp of the anus
EFO:1000700	\N	\N	"Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis" []	EFO:1000700	"Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis" []	70288	\N	\N	EFO	0	EFO	fibroepithelial polyp of urethra	fibroepithelial polyp of urethra
EFO:0000662	EFO:1000700	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000700	"Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis" []	212755	\N	\N	EFO	1	EFO	polyp	fibroepithelial polyp of urethra
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000700	"Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis" []	566472	\N	\N	EFO	2	EFO	neoplasm	fibroepithelial polyp of urethra
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000700	"Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis" []	1147877	\N	\N	EFO	3	EFO	disease	fibroepithelial polyp of urethra
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000700	"Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis" []	2030163	\N	\N	EFO	4	EFO	disposition	fibroepithelial polyp of urethra
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000700	"Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis" []	3180855	\N	\N	EFO	5	EFO	material property	fibroepithelial polyp of urethra
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000700	"Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis" []	4389439	\N	\N	EFO	6	EFO	experimental factor	fibroepithelial polyp of urethra
EFO:1000701	\N	\N	"an uncommon inflammatory disorder that characteristically presents as follicular papules and/or indurated plaques." []	EFO:1000701	"an uncommon inflammatory disorder that characteristically presents as follicular papules and/or indurated plaques." []	70289	\N	\N	EFO	0	EFO	follicular mucinosis	follicular mucinosis
EFO:1000763	EFO:1000701	\N	"A skin disease that is located_in the sebaceous gland." []	EFO:1000701	"an uncommon inflammatory disorder that characteristically presents as follicular papules and/or indurated plaques." []	212756	\N	\N	EFO	1	EFO	sebaceous gland disease	follicular mucinosis
EFO:0000701	EFO:1000763	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000701	"an uncommon inflammatory disorder that characteristically presents as follicular papules and/or indurated plaques." []	566473	\N	\N	EFO	2	EFO	skin disease	follicular mucinosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000701	"an uncommon inflammatory disorder that characteristically presents as follicular papules and/or indurated plaques." []	1147878	\N	\N	EFO	3	EFO	disease	follicular mucinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000701	"an uncommon inflammatory disorder that characteristically presents as follicular papules and/or indurated plaques." []	2030164	\N	\N	EFO	4	EFO	disposition	follicular mucinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000701	"an uncommon inflammatory disorder that characteristically presents as follicular papules and/or indurated plaques." []	3180856	\N	\N	EFO	5	EFO	material property	follicular mucinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000701	"an uncommon inflammatory disorder that characteristically presents as follicular papules and/or indurated plaques." []	4389440	\N	\N	EFO	6	EFO	experimental factor	follicular mucinosis
EFO:1000702	\N	\N	"the infection and inflammation of one or more hair follicles. The condition may occur anywhere on the skin with the exception of the palms of the hands and soles of the feet. The rash may appear as pimples that come to white tips on the face, chest, back, arms, legs, and head." []	EFO:1000702	"the infection and inflammation of one or more hair follicles. The condition may occur anywhere on the skin with the exception of the palms of the hands and soles of the feet. The rash may appear as pimples that come to white tips on the face, chest, back, arms, legs, and head." []	70290	\N	\N	EFO	0	EFO	folliculitis	folliculitis
EFO:0000701	EFO:1000702	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000702	"the infection and inflammation of one or more hair follicles. The condition may occur anywhere on the skin with the exception of the palms of the hands and soles of the feet. The rash may appear as pimples that come to white tips on the face, chest, back, arms, legs, and head." []	212757	\N	\N	EFO	1	EFO	skin disease	folliculitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000702	"the infection and inflammation of one or more hair follicles. The condition may occur anywhere on the skin with the exception of the palms of the hands and soles of the feet. The rash may appear as pimples that come to white tips on the face, chest, back, arms, legs, and head." []	566474	\N	\N	EFO	2	EFO	disease	folliculitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000702	"the infection and inflammation of one or more hair follicles. The condition may occur anywhere on the skin with the exception of the palms of the hands and soles of the feet. The rash may appear as pimples that come to white tips on the face, chest, back, arms, legs, and head." []	1147879	\N	\N	EFO	3	EFO	disposition	folliculitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000702	"the infection and inflammation of one or more hair follicles. The condition may occur anywhere on the skin with the exception of the palms of the hands and soles of the feet. The rash may appear as pimples that come to white tips on the face, chest, back, arms, legs, and head." []	2030165	\N	\N	EFO	4	EFO	material property	folliculitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000702	"the infection and inflammation of one or more hair follicles. The condition may occur anywhere on the skin with the exception of the palms of the hands and soles of the feet. The rash may appear as pimples that come to white tips on the face, chest, back, arms, legs, and head." []	3180857	\N	\N	EFO	5	EFO	experimental factor	folliculitis
EFO:1000703	\N	\N	"a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed." []	EFO:1000703	"a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed." []	70291	\N	\N	EFO	0	EFO	fox fordyce disease	fox fordyce disease
EFO:1000772	EFO:1000703	\N	"disorders or sweat glands" []	EFO:1000703	"a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed." []	212758	\N	\N	EFO	1	EFO	sweat gland disease	fox fordyce disease
EFO:0000701	EFO:1000772	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000703	"a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed." []	566475	\N	\N	EFO	2	EFO	skin disease	fox fordyce disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000703	"a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed." []	1147880	\N	\N	EFO	3	EFO	disease	fox fordyce disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000703	"a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed." []	2030166	\N	\N	EFO	4	EFO	disposition	fox fordyce disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000703	"a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed." []	3180858	\N	\N	EFO	5	EFO	material property	fox fordyce disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000703	"a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed." []	4389441	\N	\N	EFO	6	EFO	experimental factor	fox fordyce disease
EFO:1000704	\N	\N	"a fairly rare, chronic dermatological condition which presents as reddish bumps on the skin arranged in a circle or ring. It can initially occur at any age and is significantly more common in females (80/20 ratio)." []	EFO:1000704	"a fairly rare, chronic dermatological condition which presents as reddish bumps on the skin arranged in a circle or ring. It can initially occur at any age and is significantly more common in females (80/20 ratio)." []	70292	\N	\N	EFO	0	EFO	granuloma annulare	granuloma annulare
EFO:0000701	EFO:1000704	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000704	"a fairly rare, chronic dermatological condition which presents as reddish bumps on the skin arranged in a circle or ring. It can initially occur at any age and is significantly more common in females (80/20 ratio)." []	212759	\N	\N	EFO	1	EFO	skin disease	granuloma annulare
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000704	"a fairly rare, chronic dermatological condition which presents as reddish bumps on the skin arranged in a circle or ring. It can initially occur at any age and is significantly more common in females (80/20 ratio)." []	566476	\N	\N	EFO	2	EFO	disease	granuloma annulare
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000704	"a fairly rare, chronic dermatological condition which presents as reddish bumps on the skin arranged in a circle or ring. It can initially occur at any age and is significantly more common in females (80/20 ratio)." []	1147881	\N	\N	EFO	3	EFO	disposition	granuloma annulare
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000704	"a fairly rare, chronic dermatological condition which presents as reddish bumps on the skin arranged in a circle or ring. It can initially occur at any age and is significantly more common in females (80/20 ratio)." []	2030167	\N	\N	EFO	4	EFO	material property	granuloma annulare
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000704	"a fairly rare, chronic dermatological condition which presents as reddish bumps on the skin arranged in a circle or ring. It can initially occur at any age and is significantly more common in females (80/20 ratio)." []	3180859	\N	\N	EFO	5	EFO	experimental factor	granuloma annulare
EFO:1000705	\N	\N	"a rare skin disorder in which there is a particular pattern of granulomatousinflammation. The classic original clinical description of interstitialgranulomatous dermatitiswas of linear erythematous palpable cords on the lateral aspects of the trunk, called the rope sign." []	EFO:1000705	"a rare skin disorder in which there is a particular pattern of granulomatousinflammation. The classic original clinical description of interstitialgranulomatous dermatitiswas of linear erythematous palpable cords on the lateral aspects of the trunk, called the rope sign." []	70293	\N	\N	EFO	0	EFO	granulomatous dermatitis	granulomatous dermatitis
EFO:0000701	EFO:1000705	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000705	"a rare skin disorder in which there is a particular pattern of granulomatousinflammation. The classic original clinical description of interstitialgranulomatous dermatitiswas of linear erythematous palpable cords on the lateral aspects of the trunk, called the rope sign." []	212760	\N	\N	EFO	1	EFO	skin disease	granulomatous dermatitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000705	"a rare skin disorder in which there is a particular pattern of granulomatousinflammation. The classic original clinical description of interstitialgranulomatous dermatitiswas of linear erythematous palpable cords on the lateral aspects of the trunk, called the rope sign." []	566477	\N	\N	EFO	2	EFO	disease	granulomatous dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000705	"a rare skin disorder in which there is a particular pattern of granulomatousinflammation. The classic original clinical description of interstitialgranulomatous dermatitiswas of linear erythematous palpable cords on the lateral aspects of the trunk, called the rope sign." []	1147882	\N	\N	EFO	3	EFO	disposition	granulomatous dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000705	"a rare skin disorder in which there is a particular pattern of granulomatousinflammation. The classic original clinical description of interstitialgranulomatous dermatitiswas of linear erythematous palpable cords on the lateral aspects of the trunk, called the rope sign." []	2030168	\N	\N	EFO	4	EFO	material property	granulomatous dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000705	"a rare skin disorder in which there is a particular pattern of granulomatousinflammation. The classic original clinical description of interstitialgranulomatous dermatitiswas of linear erythematous palpable cords on the lateral aspects of the trunk, called the rope sign." []	3180860	\N	\N	EFO	5	EFO	experimental factor	granulomatous dermatitis
EFO:1000706	\N	\N	"skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." []	EFO:1000706	"skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." []	70294	\N	\N	EFO	0	EFO	hand dermatosis	hand dermatosis
EFO:0000701	EFO:1000706	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000706	"skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." []	212761	\N	\N	EFO	1	EFO	skin disease	hand dermatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000706	"skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." []	566478	\N	\N	EFO	2	EFO	disease	hand dermatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000706	"skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." []	1147883	\N	\N	EFO	3	EFO	disposition	hand dermatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000706	"skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." []	2030169	\N	\N	EFO	4	EFO	material property	hand dermatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000706	"skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." []	3180861	\N	\N	EFO	5	EFO	experimental factor	hand dermatosis
EFO:1000707	\N	\N	"Subcutaneous hemangiomas grow beneath the skin and appear blue, and many hemangiomas have both a superficial and a deep component." []	EFO:1000707	"Subcutaneous hemangiomas grow beneath the skin and appear blue, and many hemangiomas have both a superficial and a deep component." []	70295	\N	\N	EFO	0	EFO	hemangioma of subcutaneous tissue	hemangioma of subcutaneous tissue
EFO:1000635	EFO:1000707	\N	"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." []	EFO:1000707	"Subcutaneous hemangiomas grow beneath the skin and appear blue, and many hemangiomas have both a superficial and a deep component." []	212762	\N	\N	EFO	1	EFO	hemangioma	hemangioma of subcutaneous tissue
EFO:0000616	EFO:1000635	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000707	"Subcutaneous hemangiomas grow beneath the skin and appear blue, and many hemangiomas have both a superficial and a deep component." []	566479	\N	\N	EFO	2	EFO	neoplasm	hemangioma of subcutaneous tissue
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000707	"Subcutaneous hemangiomas grow beneath the skin and appear blue, and many hemangiomas have both a superficial and a deep component." []	1147884	\N	\N	EFO	3	EFO	disease	hemangioma of subcutaneous tissue
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000707	"Subcutaneous hemangiomas grow beneath the skin and appear blue, and many hemangiomas have both a superficial and a deep component." []	2030170	\N	\N	EFO	4	EFO	disposition	hemangioma of subcutaneous tissue
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000707	"Subcutaneous hemangiomas grow beneath the skin and appear blue, and many hemangiomas have both a superficial and a deep component." []	3180862	\N	\N	EFO	5	EFO	material property	hemangioma of subcutaneous tissue
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000707	"Subcutaneous hemangiomas grow beneath the skin and appear blue, and many hemangiomas have both a superficial and a deep component." []	4389442	\N	\N	EFO	6	EFO	experimental factor	hemangioma of subcutaneous tissue
EFO:1000708	\N	\N	"A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." []	EFO:1000708	"A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." []	70296	\N	\N	EFO	0	EFO	hereditary papulotranslucent acrokeratoderma	hereditary papulotranslucent acrokeratoderma
EFO:1000720	EFO:1000708	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000708	"A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." []	212763	\N	\N	EFO	1	EFO	keratosis	hereditary papulotranslucent acrokeratoderma
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000708	"A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." []	566480	\N	\N	EFO	2	EFO	skin disease	hereditary papulotranslucent acrokeratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000708	"A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." []	1147885	\N	\N	EFO	3	EFO	disease	hereditary papulotranslucent acrokeratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000708	"A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." []	2030171	\N	\N	EFO	4	EFO	disposition	hereditary papulotranslucent acrokeratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000708	"A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." []	3180863	\N	\N	EFO	5	EFO	material property	hereditary papulotranslucent acrokeratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000708	"A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." []	4389443	\N	\N	EFO	6	EFO	experimental factor	hereditary papulotranslucent acrokeratoderma
EFO:1000709	\N	\N	"a dermatosis of pregnancy,being an autoimmuneblistering skin disease that occurs during pregnancy, typically in the second or third trimester, and/or immediately following pregnancy. It was originally called herpes gestationis because of the blistering appearance, although it is not associated with the herpes virus." []	EFO:1000709	"a dermatosis of pregnancy,being an autoimmuneblistering skin disease that occurs during pregnancy, typically in the second or third trimester, and/or immediately following pregnancy. It was originally called herpes gestationis because of the blistering appearance, although it is not associated with the herpes virus." []	70297	\N	\N	EFO	0	EFO	herpes gestationis	herpes gestationis
EFO:1000774	EFO:1000709	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	EFO:1000709	"a dermatosis of pregnancy,being an autoimmuneblistering skin disease that occurs during pregnancy, typically in the second or third trimester, and/or immediately following pregnancy. It was originally called herpes gestationis because of the blistering appearance, although it is not associated with the herpes virus." []	212764	\N	\N	EFO	1	EFO	vesiculobullous skin disease	herpes gestationis
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000709	"a dermatosis of pregnancy,being an autoimmuneblistering skin disease that occurs during pregnancy, typically in the second or third trimester, and/or immediately following pregnancy. It was originally called herpes gestationis because of the blistering appearance, although it is not associated with the herpes virus." []	566481	\N	\N	EFO	2	EFO	skin disease	herpes gestationis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000709	"a dermatosis of pregnancy,being an autoimmuneblistering skin disease that occurs during pregnancy, typically in the second or third trimester, and/or immediately following pregnancy. It was originally called herpes gestationis because of the blistering appearance, although it is not associated with the herpes virus." []	1147886	\N	\N	EFO	3	EFO	disease	herpes gestationis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000709	"a dermatosis of pregnancy,being an autoimmuneblistering skin disease that occurs during pregnancy, typically in the second or third trimester, and/or immediately following pregnancy. It was originally called herpes gestationis because of the blistering appearance, although it is not associated with the herpes virus." []	2030172	\N	\N	EFO	4	EFO	disposition	herpes gestationis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000709	"a dermatosis of pregnancy,being an autoimmuneblistering skin disease that occurs during pregnancy, typically in the second or third trimester, and/or immediately following pregnancy. It was originally called herpes gestationis because of the blistering appearance, although it is not associated with the herpes virus." []	3180864	\N	\N	EFO	5	EFO	material property	herpes gestationis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000709	"a dermatosis of pregnancy,being an autoimmuneblistering skin disease that occurs during pregnancy, typically in the second or third trimester, and/or immediately following pregnancy. It was originally called herpes gestationis because of the blistering appearance, although it is not associated with the herpes virus." []	4389444	\N	\N	EFO	6	EFO	experimental factor	herpes gestationis
EFO:1000710	\N	\N	"a common (though rarely diagnosed), chronic skin disease characterized by clusters of abscesses or subcutaneous boil-like \\"infections\\" (oftentimes free of actual bacteria) that most commonly affects apocrine sweat gland bearing areas, such as the underarms, under the breasts, inner thighs, groin and buttocks.The disease is not contagious. There are indications that it is hereditary among certain ethnic groups and autoimmune in nature. Onset is most common in the late teens and early 20's." []	EFO:1000710	"a common (though rarely diagnosed), chronic skin disease characterized by clusters of abscesses or subcutaneous boil-like \\"infections\\" (oftentimes free of actual bacteria) that most commonly affects apocrine sweat gland bearing areas, such as the underarms, under the breasts, inner thighs, groin and buttocks.The disease is not contagious. There are indications that it is hereditary among certain ethnic groups and autoimmune in nature. Onset is most common in the late teens and early 20's." []	70298	\N	\N	EFO	0	EFO	hidradenitis suppurativa	hidradenitis suppurativa
EFO:1000772	EFO:1000710	\N	"disorders or sweat glands" []	EFO:1000710	"a common (though rarely diagnosed), chronic skin disease characterized by clusters of abscesses or subcutaneous boil-like \\"infections\\" (oftentimes free of actual bacteria) that most commonly affects apocrine sweat gland bearing areas, such as the underarms, under the breasts, inner thighs, groin and buttocks.The disease is not contagious. There are indications that it is hereditary among certain ethnic groups and autoimmune in nature. Onset is most common in the late teens and early 20's." []	212765	\N	\N	EFO	1	EFO	sweat gland disease	hidradenitis suppurativa
EFO:0000701	EFO:1000772	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000710	"a common (though rarely diagnosed), chronic skin disease characterized by clusters of abscesses or subcutaneous boil-like \\"infections\\" (oftentimes free of actual bacteria) that most commonly affects apocrine sweat gland bearing areas, such as the underarms, under the breasts, inner thighs, groin and buttocks.The disease is not contagious. There are indications that it is hereditary among certain ethnic groups and autoimmune in nature. Onset is most common in the late teens and early 20's." []	566482	\N	\N	EFO	2	EFO	skin disease	hidradenitis suppurativa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000710	"a common (though rarely diagnosed), chronic skin disease characterized by clusters of abscesses or subcutaneous boil-like \\"infections\\" (oftentimes free of actual bacteria) that most commonly affects apocrine sweat gland bearing areas, such as the underarms, under the breasts, inner thighs, groin and buttocks.The disease is not contagious. There are indications that it is hereditary among certain ethnic groups and autoimmune in nature. Onset is most common in the late teens and early 20's." []	1147887	\N	\N	EFO	3	EFO	disease	hidradenitis suppurativa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000710	"a common (though rarely diagnosed), chronic skin disease characterized by clusters of abscesses or subcutaneous boil-like \\"infections\\" (oftentimes free of actual bacteria) that most commonly affects apocrine sweat gland bearing areas, such as the underarms, under the breasts, inner thighs, groin and buttocks.The disease is not contagious. There are indications that it is hereditary among certain ethnic groups and autoimmune in nature. Onset is most common in the late teens and early 20's." []	2030173	\N	\N	EFO	4	EFO	disposition	hidradenitis suppurativa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000710	"a common (though rarely diagnosed), chronic skin disease characterized by clusters of abscesses or subcutaneous boil-like \\"infections\\" (oftentimes free of actual bacteria) that most commonly affects apocrine sweat gland bearing areas, such as the underarms, under the breasts, inner thighs, groin and buttocks.The disease is not contagious. There are indications that it is hereditary among certain ethnic groups and autoimmune in nature. Onset is most common in the late teens and early 20's." []	3180865	\N	\N	EFO	5	EFO	material property	hidradenitis suppurativa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000710	"a common (though rarely diagnosed), chronic skin disease characterized by clusters of abscesses or subcutaneous boil-like \\"infections\\" (oftentimes free of actual bacteria) that most commonly affects apocrine sweat gland bearing areas, such as the underarms, under the breasts, inner thighs, groin and buttocks.The disease is not contagious. There are indications that it is hereditary among certain ethnic groups and autoimmune in nature. Onset is most common in the late teens and early 20's." []	4389445	\N	\N	EFO	6	EFO	experimental factor	hidradenitis suppurativa
EFO:1000711	\N	\N	"over-production of pigment in the eyelid" []	EFO:1000711	"over-production of pigment in the eyelid" []	70299	\N	\N	EFO	0	EFO	hyperpigmentation of eyelid	hyperpigmentation of eyelid
EFO:1000755	EFO:1000711	\N	"a group of diseases affecting the color of skin" []	EFO:1000711	"over-production of pigment in the eyelid" []	212766	\N	\N	EFO	1	EFO	pigmentation disease	hyperpigmentation of eyelid
EFO:0000701	EFO:1000755	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000711	"over-production of pigment in the eyelid" []	566483	\N	\N	EFO	2	EFO	skin disease	hyperpigmentation of eyelid
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000711	"over-production of pigment in the eyelid" []	1147888	\N	\N	EFO	3	EFO	disease	hyperpigmentation of eyelid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000711	"over-production of pigment in the eyelid" []	2030174	\N	\N	EFO	4	EFO	disposition	hyperpigmentation of eyelid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000711	"over-production of pigment in the eyelid" []	3180866	\N	\N	EFO	5	EFO	material property	hyperpigmentation of eyelid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000711	"over-production of pigment in the eyelid" []	4389446	\N	\N	EFO	6	EFO	experimental factor	hyperpigmentation of eyelid
EFO:1000712	\N	\N	"diminished sweating in response to appropriate stimuli. While hyperhidrosis is a socially troubling but benign condition, hypohidrosis can lead to hyperthermia, heat exhaustion, heat stroke and potentially death.[1] An extreme case of hypohydrosis in which there is a complete absence of sweating and the skin is dry is termedanhidrosis." []	EFO:1000712	"diminished sweating in response to appropriate stimuli. While hyperhidrosis is a socially troubling but benign condition, hypohidrosis can lead to hyperthermia, heat exhaustion, heat stroke and potentially death.[1] An extreme case of hypohydrosis in which there is a complete absence of sweating and the skin is dry is termedanhidrosis." []	70300	\N	\N	EFO	0	EFO	hypohidrosis	hypohidrosis
EFO:1000772	EFO:1000712	\N	"disorders or sweat glands" []	EFO:1000712	"diminished sweating in response to appropriate stimuli. While hyperhidrosis is a socially troubling but benign condition, hypohidrosis can lead to hyperthermia, heat exhaustion, heat stroke and potentially death.[1] An extreme case of hypohydrosis in which there is a complete absence of sweating and the skin is dry is termedanhidrosis." []	212767	\N	\N	EFO	1	EFO	sweat gland disease	hypohidrosis
EFO:0000701	EFO:1000772	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000712	"diminished sweating in response to appropriate stimuli. While hyperhidrosis is a socially troubling but benign condition, hypohidrosis can lead to hyperthermia, heat exhaustion, heat stroke and potentially death.[1] An extreme case of hypohydrosis in which there is a complete absence of sweating and the skin is dry is termedanhidrosis." []	566484	\N	\N	EFO	2	EFO	skin disease	hypohidrosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000712	"diminished sweating in response to appropriate stimuli. While hyperhidrosis is a socially troubling but benign condition, hypohidrosis can lead to hyperthermia, heat exhaustion, heat stroke and potentially death.[1] An extreme case of hypohydrosis in which there is a complete absence of sweating and the skin is dry is termedanhidrosis." []	1147889	\N	\N	EFO	3	EFO	disease	hypohidrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000712	"diminished sweating in response to appropriate stimuli. While hyperhidrosis is a socially troubling but benign condition, hypohidrosis can lead to hyperthermia, heat exhaustion, heat stroke and potentially death.[1] An extreme case of hypohydrosis in which there is a complete absence of sweating and the skin is dry is termedanhidrosis." []	2030175	\N	\N	EFO	4	EFO	disposition	hypohidrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000712	"diminished sweating in response to appropriate stimuli. While hyperhidrosis is a socially troubling but benign condition, hypohidrosis can lead to hyperthermia, heat exhaustion, heat stroke and potentially death.[1] An extreme case of hypohydrosis in which there is a complete absence of sweating and the skin is dry is termedanhidrosis." []	3180867	\N	\N	EFO	5	EFO	material property	hypohidrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000712	"diminished sweating in response to appropriate stimuli. While hyperhidrosis is a socially troubling but benign condition, hypohidrosis can lead to hyperthermia, heat exhaustion, heat stroke and potentially death.[1] An extreme case of hypohydrosis in which there is a complete absence of sweating and the skin is dry is termedanhidrosis." []	4389447	\N	\N	EFO	6	EFO	experimental factor	hypohidrosis
EFO:1000713	\N	\N	"under-production of pigment in the eyelid" []	EFO:1000713	"under-production of pigment in the eyelid" []	70301	\N	\N	EFO	0	EFO	hypopigmentation of eyelid	hypopigmentation of eyelid
EFO:1000755	EFO:1000713	\N	"a group of diseases affecting the color of skin" []	EFO:1000713	"under-production of pigment in the eyelid" []	212768	\N	\N	EFO	1	EFO	pigmentation disease	hypopigmentation of eyelid
EFO:0000701	EFO:1000755	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000713	"under-production of pigment in the eyelid" []	566485	\N	\N	EFO	2	EFO	skin disease	hypopigmentation of eyelid
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000713	"under-production of pigment in the eyelid" []	1147890	\N	\N	EFO	3	EFO	disease	hypopigmentation of eyelid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000713	"under-production of pigment in the eyelid" []	2030176	\N	\N	EFO	4	EFO	disposition	hypopigmentation of eyelid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000713	"under-production of pigment in the eyelid" []	3180868	\N	\N	EFO	5	EFO	material property	hypopigmentation of eyelid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000713	"under-production of pigment in the eyelid" []	4389448	\N	\N	EFO	6	EFO	experimental factor	hypopigmentation of eyelid
EFO:1000714	\N	\N	"A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous." []	EFO:1000714	"A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous." []	70302	\N	\N	EFO	0	EFO	impetigo	impetigo
HP:0000999	\N	\N	"Any manifestation of a skin disease associated with the production of pus." [HPO:probinson]	EFO:1000714	"A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous." []	194946	\N	\N	EFO	0	EFO	Pyoderma	impetigo
EFO:1000715	\N	\N	"An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." []	EFO:1000715	"An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." []	70303	\N	\N	EFO	0	EFO	impetigo herpetiformis	impetigo herpetiformis
EFO:1000714	EFO:1000715	\N	"A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous." []	EFO:1000715	"An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." []	212769	\N	\N	EFO	1	EFO	impetigo	impetigo herpetiformis
EFO:1000716	\N	\N	"a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown." []	EFO:1000716	"a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown." []	70304	\N	\N	EFO	0	EFO	incontinentia pigmenti achromians	incontinentia pigmenti achromians
EFO:0000701	EFO:1000716	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000716	"a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown." []	212770	\N	\N	EFO	1	EFO	skin disease	incontinentia pigmenti achromians
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000716	"a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown." []	566486	\N	\N	EFO	2	EFO	disease	incontinentia pigmenti achromians
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000716	"a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown." []	1147891	\N	\N	EFO	3	EFO	disposition	incontinentia pigmenti achromians
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000716	"a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown." []	2030177	\N	\N	EFO	4	EFO	material property	incontinentia pigmenti achromians
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000716	"a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown." []	3180869	\N	\N	EFO	5	EFO	experimental factor	incontinentia pigmenti achromians
EFO:1000717	\N	\N	"a cutaneous condition characterized by asymptomatic, firm, whitetan to pink papules." []	EFO:1000717	"a cutaneous condition characterized by asymptomatic, firm, whitetan to pink papules." []	70305	\N	\N	EFO	0	EFO	inverted follicular keratosis	inverted follicular keratosis
EFO:0005584	EFO:1000717	\N	"seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \\"barnacles of old age\\".\\n\\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \\"pasted on\\" appearance." []	EFO:1000717	"a cutaneous condition characterized by asymptomatic, firm, whitetan to pink papules." []	212771	\N	\N	EFO	1	EFO	seborrheic keratosis	inverted follicular keratosis
EFO:0000701	EFO:0005584	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000717	"a cutaneous condition characterized by asymptomatic, firm, whitetan to pink papules." []	566487	\N	\N	EFO	2	EFO	skin disease	inverted follicular keratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000717	"a cutaneous condition characterized by asymptomatic, firm, whitetan to pink papules." []	1147892	\N	\N	EFO	3	EFO	disease	inverted follicular keratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000717	"a cutaneous condition characterized by asymptomatic, firm, whitetan to pink papules." []	2030178	\N	\N	EFO	4	EFO	disposition	inverted follicular keratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000717	"a cutaneous condition characterized by asymptomatic, firm, whitetan to pink papules." []	3180870	\N	\N	EFO	5	EFO	material property	inverted follicular keratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000717	"a cutaneous condition characterized by asymptomatic, firm, whitetan to pink papules." []	4389449	\N	\N	EFO	6	EFO	experimental factor	inverted follicular keratosis
EFO:1000718	\N	\N	"Irritant contact dermatitisoccurs when your skin comes into directcontactwith a substance that damages the outer layer of your skin, causing redness, itching, and a burning or stinging sensation.Irritant contact dermatitismay be caused by frequent exposure to a weakirritant, such as soap or detergent." []	EFO:1000718	"Irritant contact dermatitisoccurs when your skin comes into directcontactwith a substance that damages the outer layer of your skin, causing redness, itching, and a burning or stinging sensation.Irritant contact dermatitismay be caused by frequent exposure to a weakirritant, such as soap or detergent." []	70306	\N	\N	EFO	0	EFO	irritant dermatitis	irritant dermatitis
EFO:0005319	EFO:1000718	\N	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	EFO:1000718	"Irritant contact dermatitisoccurs when your skin comes into directcontactwith a substance that damages the outer layer of your skin, causing redness, itching, and a burning or stinging sensation.Irritant contact dermatitismay be caused by frequent exposure to a weakirritant, such as soap or detergent." []	212772	\N	\N	EFO	1	EFO	contact dermatitis	irritant dermatitis
EFO:0003785	EFO:0005319	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1000718	"Irritant contact dermatitisoccurs when your skin comes into directcontactwith a substance that damages the outer layer of your skin, causing redness, itching, and a burning or stinging sensation.Irritant contact dermatitismay be caused by frequent exposure to a weakirritant, such as soap or detergent." []	566488	\N	\N	EFO	2	EFO	allergy	irritant dermatitis
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000718	"Irritant contact dermatitisoccurs when your skin comes into directcontactwith a substance that damages the outer layer of your skin, causing redness, itching, and a burning or stinging sensation.Irritant contact dermatitismay be caused by frequent exposure to a weakirritant, such as soap or detergent." []	1147893	\N	\N	EFO	3	EFO	immune system disease	irritant dermatitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000718	"Irritant contact dermatitisoccurs when your skin comes into directcontactwith a substance that damages the outer layer of your skin, causing redness, itching, and a burning or stinging sensation.Irritant contact dermatitismay be caused by frequent exposure to a weakirritant, such as soap or detergent." []	2030179	\N	\N	EFO	4	EFO	disease	irritant dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000718	"Irritant contact dermatitisoccurs when your skin comes into directcontactwith a substance that damages the outer layer of your skin, causing redness, itching, and a burning or stinging sensation.Irritant contact dermatitismay be caused by frequent exposure to a weakirritant, such as soap or detergent." []	3180871	\N	\N	EFO	5	EFO	disposition	irritant dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000718	"Irritant contact dermatitisoccurs when your skin comes into directcontactwith a substance that damages the outer layer of your skin, causing redness, itching, and a burning or stinging sensation.Irritant contact dermatitismay be caused by frequent exposure to a weakirritant, such as soap or detergent." []	4389450	\N	\N	EFO	6	EFO	material property	irritant dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000718	"Irritant contact dermatitisoccurs when your skin comes into directcontactwith a substance that damages the outer layer of your skin, causing redness, itching, and a burning or stinging sensation.Irritant contact dermatitismay be caused by frequent exposure to a weakirritant, such as soap or detergent." []	5409304	\N	\N	EFO	7	EFO	experimental factor	irritant dermatitis
EFO:1000719	\N	\N	"dermatitis herpetiformis in children" []	EFO:1000719	"dermatitis herpetiformis in children" []	70307	\N	\N	EFO	0	EFO	juvenile dermatitis herpetiformis	juvenile dermatitis herpetiformis
EFO:1000684	EFO:1000719	\N	"a chronic blistering skin condition, characterised by blisters filled with a watery fluid. Despite its name, DH is neither related to nor caused by herpes virus: the name means that it is a skin inflammation having an appearance similar to herpes." []	EFO:1000719	"dermatitis herpetiformis in children" []	212773	\N	\N	EFO	1	EFO	dermatitis herpetiformis	juvenile dermatitis herpetiformis
EFO:1000673	EFO:1000684	\N	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	EFO:1000719	"dermatitis herpetiformis in children" []	566489	\N	\N	EFO	2	EFO	bullous skin disease	juvenile dermatitis herpetiformis
EFO:0000701	EFO:1000673	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000719	"dermatitis herpetiformis in children" []	1147894	\N	\N	EFO	3	EFO	skin disease	juvenile dermatitis herpetiformis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000719	"dermatitis herpetiformis in children" []	2030180	\N	\N	EFO	4	EFO	disease	juvenile dermatitis herpetiformis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000719	"dermatitis herpetiformis in children" []	3180872	\N	\N	EFO	5	EFO	disposition	juvenile dermatitis herpetiformis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000719	"dermatitis herpetiformis in children" []	4389451	\N	\N	EFO	6	EFO	material property	juvenile dermatitis herpetiformis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000719	"dermatitis herpetiformis in children" []	5409305	\N	\N	EFO	7	EFO	experimental factor	juvenile dermatitis herpetiformis
EFO:1000720	\N	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000720	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	70308	\N	\N	EFO	0	EFO	keratosis	keratosis
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000720	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	212774	\N	\N	EFO	1	EFO	skin disease	keratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000720	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	566490	\N	\N	EFO	2	EFO	disease	keratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000720	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	1147895	\N	\N	EFO	3	EFO	disposition	keratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000720	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	2030181	\N	\N	EFO	4	EFO	material property	keratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000720	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	3180873	\N	\N	EFO	5	EFO	experimental factor	keratosis
EFO:1000721	\N	\N	"a bilirubin-induced brain dysfunction in new-born due to isoimmunization" []	EFO:1000721	"a bilirubin-induced brain dysfunction in new-born due to isoimmunization" []	70309	\N	\N	EFO	0	EFO	kernicterus due to isoimmunization	kernicterus due to isoimmunization
EFO:1000739	EFO:1000721	\N	"A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." []	EFO:1000721	"a bilirubin-induced brain dysfunction in new-born due to isoimmunization" []	212775	\N	\N	EFO	1	EFO	neonatal jaundice	kernicterus due to isoimmunization
EFO:1000755	EFO:1000739	\N	"a group of diseases affecting the color of skin" []	EFO:1000721	"a bilirubin-induced brain dysfunction in new-born due to isoimmunization" []	566491	\N	\N	EFO	2	EFO	pigmentation disease	kernicterus due to isoimmunization
EFO:0000701	EFO:1000755	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000721	"a bilirubin-induced brain dysfunction in new-born due to isoimmunization" []	1147896	\N	\N	EFO	3	EFO	skin disease	kernicterus due to isoimmunization
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000721	"a bilirubin-induced brain dysfunction in new-born due to isoimmunization" []	2030182	\N	\N	EFO	4	EFO	disease	kernicterus due to isoimmunization
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000721	"a bilirubin-induced brain dysfunction in new-born due to isoimmunization" []	3180874	\N	\N	EFO	5	EFO	disposition	kernicterus due to isoimmunization
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000721	"a bilirubin-induced brain dysfunction in new-born due to isoimmunization" []	4389452	\N	\N	EFO	6	EFO	material property	kernicterus due to isoimmunization
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000721	"a bilirubin-induced brain dysfunction in new-born due to isoimmunization" []	5409306	\N	\N	EFO	7	EFO	experimental factor	kernicterus due to isoimmunization
EFO:1000722	\N	\N	"a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes." []	EFO:1000722	"a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes." []	70310	\N	\N	EFO	0	EFO	Kimura disease	Kimura disease
EFO:0000701	EFO:1000722	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000722	"a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes." []	212776	\N	\N	EFO	1	EFO	skin disease	Kimura disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000722	"a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes." []	566492	\N	\N	EFO	2	EFO	disease	Kimura disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000722	"a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes." []	1147897	\N	\N	EFO	3	EFO	disposition	Kimura disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000722	"a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes." []	2030183	\N	\N	EFO	4	EFO	material property	Kimura disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000722	"a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes." []	3180875	\N	\N	EFO	5	EFO	experimental factor	Kimura disease
EFO:1000723	\N	\N	"dermatosis in the leg" []	EFO:1000723	"dermatosis in the leg" []	70311	\N	\N	EFO	0	EFO	leg dermatosis	leg dermatosis
EFO:0000701	EFO:1000723	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000723	"dermatosis in the leg" []	212777	\N	\N	EFO	1	EFO	skin disease	leg dermatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000723	"dermatosis in the leg" []	566493	\N	\N	EFO	2	EFO	disease	leg dermatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000723	"dermatosis in the leg" []	1147898	\N	\N	EFO	3	EFO	disposition	leg dermatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000723	"dermatosis in the leg" []	2030184	\N	\N	EFO	4	EFO	material property	leg dermatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000723	"dermatosis in the leg" []	3180876	\N	\N	EFO	5	EFO	experimental factor	leg dermatosis
EFO:1000724	\N	\N	"a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." []	EFO:1000724	"a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." []	70312	\N	\N	EFO	0	EFO	lichen disease	lichen disease
EFO:0000701	EFO:1000724	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000724	"a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." []	212778	\N	\N	EFO	1	EFO	skin disease	lichen disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000724	"a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." []	566494	\N	\N	EFO	2	EFO	disease	lichen disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000724	"a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." []	1147899	\N	\N	EFO	3	EFO	disposition	lichen disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000724	"a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." []	2030185	\N	\N	EFO	4	EFO	material property	lichen disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000724	"a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." []	3180877	\N	\N	EFO	5	EFO	experimental factor	lichen disease
EFO:1000725	\N	\N	"a chronic inflammatory disease of unknown etiology characterized by 12 mm, discrete and uniform, shiny, flat-topped, pale flesh-colored or reddish-brown papules that may appear as hypopigmented against dark skin." []	EFO:1000725	"a chronic inflammatory disease of unknown etiology characterized by 12 mm, discrete and uniform, shiny, flat-topped, pale flesh-colored or reddish-brown papules that may appear as hypopigmented against dark skin." []	70313	\N	\N	EFO	0	EFO	lichen nitidus	lichen nitidus
EFO:1000724	EFO:1000725	\N	"a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." []	EFO:1000725	"a chronic inflammatory disease of unknown etiology characterized by 12 mm, discrete and uniform, shiny, flat-topped, pale flesh-colored or reddish-brown papules that may appear as hypopigmented against dark skin." []	212779	\N	\N	EFO	1	EFO	lichen disease	lichen nitidus
EFO:0000701	EFO:1000724	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000725	"a chronic inflammatory disease of unknown etiology characterized by 12 mm, discrete and uniform, shiny, flat-topped, pale flesh-colored or reddish-brown papules that may appear as hypopigmented against dark skin." []	566495	\N	\N	EFO	2	EFO	skin disease	lichen nitidus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000725	"a chronic inflammatory disease of unknown etiology characterized by 12 mm, discrete and uniform, shiny, flat-topped, pale flesh-colored or reddish-brown papules that may appear as hypopigmented against dark skin." []	1147900	\N	\N	EFO	3	EFO	disease	lichen nitidus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000725	"a chronic inflammatory disease of unknown etiology characterized by 12 mm, discrete and uniform, shiny, flat-topped, pale flesh-colored or reddish-brown papules that may appear as hypopigmented against dark skin." []	2030186	\N	\N	EFO	4	EFO	disposition	lichen nitidus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000725	"a chronic inflammatory disease of unknown etiology characterized by 12 mm, discrete and uniform, shiny, flat-topped, pale flesh-colored or reddish-brown papules that may appear as hypopigmented against dark skin." []	3180878	\N	\N	EFO	5	EFO	material property	lichen nitidus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000725	"a chronic inflammatory disease of unknown etiology characterized by 12 mm, discrete and uniform, shiny, flat-topped, pale flesh-colored or reddish-brown papules that may appear as hypopigmented against dark skin." []	4389453	\N	\N	EFO	6	EFO	experimental factor	lichen nitidus
EFO:1000726	\N	\N	"A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known." []	EFO:1000726	"A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known." []	70314	\N	\N	EFO	0	EFO	lichen planus	lichen planus
EFO:1000724	EFO:1000726	\N	"a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." []	EFO:1000726	"A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known." []	212780	\N	\N	EFO	1	EFO	lichen disease	lichen planus
EFO:0000701	EFO:1000724	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000726	"A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known." []	566496	\N	\N	EFO	2	EFO	skin disease	lichen planus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000726	"A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known." []	1147901	\N	\N	EFO	3	EFO	disease	lichen planus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000726	"A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known." []	2030187	\N	\N	EFO	4	EFO	disposition	lichen planus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000726	"A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known." []	3180879	\N	\N	EFO	5	EFO	material property	lichen planus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000726	"A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known." []	4389454	\N	\N	EFO	6	EFO	experimental factor	lichen planus
EFO:1000727	\N	\N	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	EFO:1000727	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	70315	\N	\N	EFO	0	EFO	lipodystrophy	lipodystrophy
EFO:0000701	EFO:1000727	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000727	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	212781	\N	\N	EFO	1	EFO	skin disease	lipodystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000727	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	566497	\N	\N	EFO	2	EFO	disease	lipodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000727	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	1147902	\N	\N	EFO	3	EFO	disposition	lipodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000727	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	2030188	\N	\N	EFO	4	EFO	material property	lipodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000727	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	3180880	\N	\N	EFO	5	EFO	experimental factor	lipodystrophy
EFO:1000728	\N	\N	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	EFO:1000728	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	70316	\N	\N	EFO	0	EFO	lipomatosis	lipomatosis
EFO:0000701	EFO:1000728	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000728	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	212782	\N	\N	EFO	1	EFO	skin disease	lipomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000728	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	566498	\N	\N	EFO	2	EFO	disease	lipomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000728	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	1147903	\N	\N	EFO	3	EFO	disposition	lipomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000728	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	2030189	\N	\N	EFO	4	EFO	material property	lipomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000728	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	3180881	\N	\N	EFO	5	EFO	experimental factor	lipomatosis
EFO:1000729	\N	\N	"A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis." []	EFO:1000729	"A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis." []	70317	\N	\N	EFO	0	EFO	loiasis	loiasis
EFO:0000701	EFO:1000729	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000729	"A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis." []	212783	\N	\N	EFO	1	EFO	skin disease	loiasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000729	"A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis." []	566499	\N	\N	EFO	2	EFO	disease	loiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000729	"A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis." []	1147904	\N	\N	EFO	3	EFO	disposition	loiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000729	"A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis." []	2030190	\N	\N	EFO	4	EFO	material property	loiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000729	"A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis." []	3180882	\N	\N	EFO	5	EFO	experimental factor	loiasis
EFO:1000730	\N	\N	"a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." []	EFO:1000730	"a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." []	70318	\N	\N	EFO	0	EFO	Ludwig's angina	Ludwig's angina
EFO:0003035	EFO:1000730	\N	"Cellulitis is a bacterial infection involving the skin. It specifically affects the dermis and subcutaneous fat. Signs and symptoms include an area of redness which increases in size over a couple of days. The borders of the area of redness are generally not sharp and the skin may be swollen. While the redness often turns white when pressure is applied this is not always the case. The area of infection is usually painful. Lymphatic vessels may occasionally be involved and the person may have a fever and feel tired." []	EFO:1000730	"a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." []	212784	\N	\N	EFO	1	EFO	cellulitis	Ludwig's angina
EFO:0000701	EFO:0003035	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000730	"a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." []	566500	\N	\N	EFO	2	EFO	skin disease	Ludwig's angina
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000730	"a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." []	1147905	\N	\N	EFO	3	EFO	disease	Ludwig's angina
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000730	"a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." []	2030191	\N	\N	EFO	4	EFO	disposition	Ludwig's angina
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000730	"a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." []	3180883	\N	\N	EFO	5	EFO	material property	Ludwig's angina
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000730	"a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." []	4389455	\N	\N	EFO	6	EFO	experimental factor	Ludwig's angina
EFO:1000731	\N	\N	"A cholesteatoma located_in paranasal sinus." []	EFO:1000731	"A cholesteatoma located_in paranasal sinus." []	70319	\N	\N	EFO	0	EFO	maxillary sinus cholesteatoma	maxillary sinus cholesteatoma
EFO:1000675	EFO:1000731	\N	"A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." []	EFO:1000731	"A cholesteatoma located_in paranasal sinus." []	212785	\N	\N	EFO	1	EFO	cholesteatoma	maxillary sinus cholesteatoma
EFO:1000720	EFO:1000675	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000731	"A cholesteatoma located_in paranasal sinus." []	566501	\N	\N	EFO	2	EFO	keratosis	maxillary sinus cholesteatoma
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000731	"A cholesteatoma located_in paranasal sinus." []	1147906	\N	\N	EFO	3	EFO	skin disease	maxillary sinus cholesteatoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000731	"A cholesteatoma located_in paranasal sinus." []	2030192	\N	\N	EFO	4	EFO	disease	maxillary sinus cholesteatoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000731	"A cholesteatoma located_in paranasal sinus." []	3180884	\N	\N	EFO	5	EFO	disposition	maxillary sinus cholesteatoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000731	"A cholesteatoma located_in paranasal sinus." []	4389456	\N	\N	EFO	6	EFO	material property	maxillary sinus cholesteatoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000731	"A cholesteatoma located_in paranasal sinus." []	5409307	\N	\N	EFO	7	EFO	experimental factor	maxillary sinus cholesteatoma
EFO:1000732	\N	\N	"a condition where there is a deposition of a large amount of mature adipose tissue in the mediastinum. It is a relatively common benign cause of mediastinal widening." []	EFO:1000732	"a condition where there is a deposition of a large amount of mature adipose tissue in the mediastinum. It is a relatively common benign cause of mediastinal widening." []	70320	\N	\N	EFO	0	EFO	mediastinal lipomatosis	mediastinal lipomatosis
EFO:1000728	EFO:1000732	\N	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	EFO:1000732	"a condition where there is a deposition of a large amount of mature adipose tissue in the mediastinum. It is a relatively common benign cause of mediastinal widening." []	212786	\N	\N	EFO	1	EFO	lipomatosis	mediastinal lipomatosis
EFO:0000701	EFO:1000728	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000732	"a condition where there is a deposition of a large amount of mature adipose tissue in the mediastinum. It is a relatively common benign cause of mediastinal widening." []	566502	\N	\N	EFO	2	EFO	skin disease	mediastinal lipomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000732	"a condition where there is a deposition of a large amount of mature adipose tissue in the mediastinum. It is a relatively common benign cause of mediastinal widening." []	1147907	\N	\N	EFO	3	EFO	disease	mediastinal lipomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000732	"a condition where there is a deposition of a large amount of mature adipose tissue in the mediastinum. It is a relatively common benign cause of mediastinal widening." []	2030193	\N	\N	EFO	4	EFO	disposition	mediastinal lipomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000732	"a condition where there is a deposition of a large amount of mature adipose tissue in the mediastinum. It is a relatively common benign cause of mediastinal widening." []	3180885	\N	\N	EFO	5	EFO	material property	mediastinal lipomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000732	"a condition where there is a deposition of a large amount of mature adipose tissue in the mediastinum. It is a relatively common benign cause of mediastinal widening." []	4389457	\N	\N	EFO	6	EFO	experimental factor	mediastinal lipomatosis
EFO:1000733	\N	\N	"a common, benign, darkly pigmented cutaneous condition characterized by a skin lesion with a dull or lackluster surface." []	EFO:1000733	"a common, benign, darkly pigmented cutaneous condition characterized by a skin lesion with a dull or lackluster surface." []	70321	\N	\N	EFO	0	EFO	melanoacanthoma	melanoacanthoma
EFO:0005584	EFO:1000733	\N	"seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \\"barnacles of old age\\".\\n\\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \\"pasted on\\" appearance." []	EFO:1000733	"a common, benign, darkly pigmented cutaneous condition characterized by a skin lesion with a dull or lackluster surface." []	212787	\N	\N	EFO	1	EFO	seborrheic keratosis	melanoacanthoma
EFO:0000701	EFO:0005584	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000733	"a common, benign, darkly pigmented cutaneous condition characterized by a skin lesion with a dull or lackluster surface." []	566503	\N	\N	EFO	2	EFO	skin disease	melanoacanthoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000733	"a common, benign, darkly pigmented cutaneous condition characterized by a skin lesion with a dull or lackluster surface." []	1147908	\N	\N	EFO	3	EFO	disease	melanoacanthoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000733	"a common, benign, darkly pigmented cutaneous condition characterized by a skin lesion with a dull or lackluster surface." []	2030194	\N	\N	EFO	4	EFO	disposition	melanoacanthoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000733	"a common, benign, darkly pigmented cutaneous condition characterized by a skin lesion with a dull or lackluster surface." []	3180886	\N	\N	EFO	5	EFO	material property	melanoacanthoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000733	"a common, benign, darkly pigmented cutaneous condition characterized by a skin lesion with a dull or lackluster surface." []	4389458	\N	\N	EFO	6	EFO	experimental factor	melanoacanthoma
EFO:1000734	\N	\N	"a skin disease marked by small and itchy rashes. Miliariais a common ailment in hot and humid conditions, such as in the tropics and during the summer season." []	EFO:1000734	"a skin disease marked by small and itchy rashes. Miliariais a common ailment in hot and humid conditions, such as in the tropics and during the summer season." []	70322	\N	\N	EFO	0	EFO	miliaria	miliaria
EFO:1000772	EFO:1000734	\N	"disorders or sweat glands" []	EFO:1000734	"a skin disease marked by small and itchy rashes. Miliariais a common ailment in hot and humid conditions, such as in the tropics and during the summer season." []	212788	\N	\N	EFO	1	EFO	sweat gland disease	miliaria
EFO:0000701	EFO:1000772	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000734	"a skin disease marked by small and itchy rashes. Miliariais a common ailment in hot and humid conditions, such as in the tropics and during the summer season." []	566504	\N	\N	EFO	2	EFO	skin disease	miliaria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000734	"a skin disease marked by small and itchy rashes. Miliariais a common ailment in hot and humid conditions, such as in the tropics and during the summer season." []	1147909	\N	\N	EFO	3	EFO	disease	miliaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000734	"a skin disease marked by small and itchy rashes. Miliariais a common ailment in hot and humid conditions, such as in the tropics and during the summer season." []	2030195	\N	\N	EFO	4	EFO	disposition	miliaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000734	"a skin disease marked by small and itchy rashes. Miliariais a common ailment in hot and humid conditions, such as in the tropics and during the summer season." []	3180887	\N	\N	EFO	5	EFO	material property	miliaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000734	"a skin disease marked by small and itchy rashes. Miliariais a common ailment in hot and humid conditions, such as in the tropics and during the summer season." []	4389459	\N	\N	EFO	6	EFO	experimental factor	miliaria
EFO:1000735	\N	\N	"Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." []	EFO:1000735	"Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." []	70323	\N	\N	EFO	0	EFO	miliaria rubra	miliaria rubra
EFO:1000734	EFO:1000735	\N	"a skin disease marked by small and itchy rashes. Miliariais a common ailment in hot and humid conditions, such as in the tropics and during the summer season." []	EFO:1000735	"Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." []	212789	\N	\N	EFO	1	EFO	miliaria	miliaria rubra
EFO:1000772	EFO:1000734	\N	"disorders or sweat glands" []	EFO:1000735	"Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." []	566505	\N	\N	EFO	2	EFO	sweat gland disease	miliaria rubra
EFO:0000701	EFO:1000772	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000735	"Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." []	1147910	\N	\N	EFO	3	EFO	skin disease	miliaria rubra
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000735	"Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." []	2030196	\N	\N	EFO	4	EFO	disease	miliaria rubra
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000735	"Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." []	3180888	\N	\N	EFO	5	EFO	disposition	miliaria rubra
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000735	"Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." []	4389460	\N	\N	EFO	6	EFO	material property	miliaria rubra
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000735	"Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." []	5409308	\N	\N	EFO	7	EFO	experimental factor	miliaria rubra
EFO:1000736	\N	\N	"congenital dermal melanocytosis, and dermal melanocytosis is a benign, flat, congenital birthmark with wavy borders and irregular shape." []	EFO:1000736	"congenital dermal melanocytosis, and dermal melanocytosis is a benign, flat, congenital birthmark with wavy borders and irregular shape." []	70324	\N	\N	EFO	0	EFO	mongolian spot	mongolian spot
EFO:0000701	EFO:1000736	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000736	"congenital dermal melanocytosis, and dermal melanocytosis is a benign, flat, congenital birthmark with wavy borders and irregular shape." []	212790	\N	\N	EFO	1	EFO	skin disease	mongolian spot
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000736	"congenital dermal melanocytosis, and dermal melanocytosis is a benign, flat, congenital birthmark with wavy borders and irregular shape." []	566506	\N	\N	EFO	2	EFO	disease	mongolian spot
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000736	"congenital dermal melanocytosis, and dermal melanocytosis is a benign, flat, congenital birthmark with wavy borders and irregular shape." []	1147911	\N	\N	EFO	3	EFO	disposition	mongolian spot
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000736	"congenital dermal melanocytosis, and dermal melanocytosis is a benign, flat, congenital birthmark with wavy borders and irregular shape." []	2030197	\N	\N	EFO	4	EFO	material property	mongolian spot
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000736	"congenital dermal melanocytosis, and dermal melanocytosis is a benign, flat, congenital birthmark with wavy borders and irregular shape." []	3180889	\N	\N	EFO	5	EFO	experimental factor	mongolian spot
EFO:1000737	\N	\N	"a rare condition which is characterized with large symmetrical accumulation of noncapsulated fat tissue in upper arms, neck, and shoulder areas. The disease etiology is unknown, with the highest incidence in the Mediterranean region." []	EFO:1000737	"a rare condition which is characterized with large symmetrical accumulation of noncapsulated fat tissue in upper arms, neck, and shoulder areas. The disease etiology is unknown, with the highest incidence in the Mediterranean region." []	70325	\N	\N	EFO	0	EFO	multiple symmetric lipomatosis	multiple symmetric lipomatosis
EFO:1000728	EFO:1000737	\N	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	EFO:1000737	"a rare condition which is characterized with large symmetrical accumulation of noncapsulated fat tissue in upper arms, neck, and shoulder areas. The disease etiology is unknown, with the highest incidence in the Mediterranean region." []	212791	\N	\N	EFO	1	EFO	lipomatosis	multiple symmetric lipomatosis
EFO:0000701	EFO:1000728	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000737	"a rare condition which is characterized with large symmetrical accumulation of noncapsulated fat tissue in upper arms, neck, and shoulder areas. The disease etiology is unknown, with the highest incidence in the Mediterranean region." []	566507	\N	\N	EFO	2	EFO	skin disease	multiple symmetric lipomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000737	"a rare condition which is characterized with large symmetrical accumulation of noncapsulated fat tissue in upper arms, neck, and shoulder areas. The disease etiology is unknown, with the highest incidence in the Mediterranean region." []	1147912	\N	\N	EFO	3	EFO	disease	multiple symmetric lipomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000737	"a rare condition which is characterized with large symmetrical accumulation of noncapsulated fat tissue in upper arms, neck, and shoulder areas. The disease etiology is unknown, with the highest incidence in the Mediterranean region." []	2030198	\N	\N	EFO	4	EFO	disposition	multiple symmetric lipomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000737	"a rare condition which is characterized with large symmetrical accumulation of noncapsulated fat tissue in upper arms, neck, and shoulder areas. The disease etiology is unknown, with the highest incidence in the Mediterranean region." []	3180890	\N	\N	EFO	5	EFO	material property	multiple symmetric lipomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000737	"a rare condition which is characterized with large symmetrical accumulation of noncapsulated fat tissue in upper arms, neck, and shoulder areas. The disease etiology is unknown, with the highest incidence in the Mediterranean region." []	4389461	\N	\N	EFO	6	EFO	experimental factor	multiple symmetric lipomatosis
EFO:1000738	\N	\N	"a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis." []	EFO:1000738	"a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis." []	70326	\N	\N	EFO	0	EFO	necrobiosis lipoidica	necrobiosis lipoidica
EFO:0000701	EFO:1000738	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000738	"a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis." []	212792	\N	\N	EFO	1	EFO	skin disease	necrobiosis lipoidica
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000738	"a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis." []	566508	\N	\N	EFO	2	EFO	disease	necrobiosis lipoidica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000738	"a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis." []	1147913	\N	\N	EFO	3	EFO	disposition	necrobiosis lipoidica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000738	"a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis." []	2030199	\N	\N	EFO	4	EFO	material property	necrobiosis lipoidica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000738	"a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis." []	3180891	\N	\N	EFO	5	EFO	experimental factor	necrobiosis lipoidica
EFO:1000739	\N	\N	"A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." []	EFO:1000739	"A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." []	70327	\N	\N	EFO	0	EFO	neonatal jaundice	neonatal jaundice
EFO:1000755	EFO:1000739	\N	"a group of diseases affecting the color of skin" []	EFO:1000739	"A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." []	212793	\N	\N	EFO	1	EFO	pigmentation disease	neonatal jaundice
EFO:0000701	EFO:1000755	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000739	"A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." []	566509	\N	\N	EFO	2	EFO	skin disease	neonatal jaundice
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000739	"A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." []	1147914	\N	\N	EFO	3	EFO	disease	neonatal jaundice
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000739	"A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." []	2030200	\N	\N	EFO	4	EFO	disposition	neonatal jaundice
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000739	"A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." []	3180892	\N	\N	EFO	5	EFO	material property	neonatal jaundice
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000739	"A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." []	4389462	\N	\N	EFO	6	EFO	experimental factor	neonatal jaundice
EFO:1000740	\N	\N	"an itchy skin disease similar to atopic dermatitis. It tends to result in focal patchesone or manythat are due to frequent rubbing or scratching of the same area over time." []	EFO:1000740	"an itchy skin disease similar to atopic dermatitis. It tends to result in focal patchesone or manythat are due to frequent rubbing or scratching of the same area over time." []	70328	\N	\N	EFO	0	EFO	neurodermatitis	neurodermatitis
EFO:0000701	EFO:1000740	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000740	"an itchy skin disease similar to atopic dermatitis. It tends to result in focal patchesone or manythat are due to frequent rubbing or scratching of the same area over time." []	212794	\N	\N	EFO	1	EFO	skin disease	neurodermatitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000740	"an itchy skin disease similar to atopic dermatitis. It tends to result in focal patchesone or manythat are due to frequent rubbing or scratching of the same area over time." []	566510	\N	\N	EFO	2	EFO	disease	neurodermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000740	"an itchy skin disease similar to atopic dermatitis. It tends to result in focal patchesone or manythat are due to frequent rubbing or scratching of the same area over time." []	1147915	\N	\N	EFO	3	EFO	disposition	neurodermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000740	"an itchy skin disease similar to atopic dermatitis. It tends to result in focal patchesone or manythat are due to frequent rubbing or scratching of the same area over time." []	2030201	\N	\N	EFO	4	EFO	material property	neurodermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000740	"an itchy skin disease similar to atopic dermatitis. It tends to result in focal patchesone or manythat are due to frequent rubbing or scratching of the same area over time." []	3180893	\N	\N	EFO	5	EFO	experimental factor	neurodermatitis
EFO:1000741	\N	\N	"a condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." []	EFO:1000741	"a condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." []	70329	\N	\N	EFO	0	EFO	neurotic excoriation	neurotic excoriation
EFO:0000701	EFO:1000741	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000741	"a condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." []	212795	\N	\N	EFO	1	EFO	skin disease	neurotic excoriation
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000741	"a condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." []	566511	\N	\N	EFO	2	EFO	disease	neurotic excoriation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000741	"a condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." []	1147916	\N	\N	EFO	3	EFO	disposition	neurotic excoriation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000741	"a condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." []	2030202	\N	\N	EFO	4	EFO	material property	neurotic excoriation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000741	"a condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." []	3180894	\N	\N	EFO	5	EFO	experimental factor	neurotic excoriation
EFO:1000742	\N	\N	"a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet." []	EFO:1000742	"a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet." []	70330	\N	\N	EFO	0	EFO	nodular nonsuppurative panniculitis	nodular nonsuppurative panniculitis
EFO:1000746	EFO:1000742	\N	"a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue." []	EFO:1000742	"a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet." []	212796	\N	\N	EFO	1	EFO	panniculitis	nodular nonsuppurative panniculitis
EFO:0000701	EFO:1000746	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000742	"a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet." []	566512	\N	\N	EFO	2	EFO	skin disease	nodular nonsuppurative panniculitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000742	"a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet." []	1147917	\N	\N	EFO	3	EFO	disease	nodular nonsuppurative panniculitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000742	"a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet." []	2030203	\N	\N	EFO	4	EFO	disposition	nodular nonsuppurative panniculitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000742	"a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet." []	3180895	\N	\N	EFO	5	EFO	material property	nodular nonsuppurative panniculitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000742	"a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet." []	4389463	\N	\N	EFO	6	EFO	experimental factor	nodular nonsuppurative panniculitis
EFO:1000743	\N	\N	"A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." []	EFO:1000743	"A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." []	70331	\N	\N	EFO	0	EFO	nonepidermolytic palmoplantar keratoderma	nonepidermolytic palmoplantar keratoderma
EFO:1000745	EFO:1000743	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	EFO:1000743	"A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." []	212797	\N	\N	EFO	1	EFO	palmoplantar keratosis	nonepidermolytic palmoplantar keratoderma
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000743	"A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." []	566513	\N	\N	EFO	2	EFO	keratosis	nonepidermolytic palmoplantar keratoderma
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000743	"A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." []	1147918	\N	\N	EFO	3	EFO	skin disease	nonepidermolytic palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000743	"A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." []	2030204	\N	\N	EFO	4	EFO	disease	nonepidermolytic palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000743	"A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." []	3180896	\N	\N	EFO	5	EFO	disposition	nonepidermolytic palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000743	"A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." []	4389464	\N	\N	EFO	6	EFO	material property	nonepidermolytic palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000743	"A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." []	5409309	\N	\N	EFO	7	EFO	experimental factor	nonepidermolytic palmoplantar keratoderma
EFO:1000744	\N	\N	"an inflammation of the skin caused by the working environment or by skin contact with a damaging substance. The symptoms and seriousness of the condition vary widely. Symptoms usually begin with redness and irritation, and occasionally, swelling." []	EFO:1000744	"an inflammation of the skin caused by the working environment or by skin contact with a damaging substance. The symptoms and seriousness of the condition vary widely. Symptoms usually begin with redness and irritation, and occasionally, swelling." []	70332	\N	\N	EFO	0	EFO	occupational dermatitis	occupational dermatitis
EFO:0005319	EFO:1000744	\N	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	EFO:1000744	"an inflammation of the skin caused by the working environment or by skin contact with a damaging substance. The symptoms and seriousness of the condition vary widely. Symptoms usually begin with redness and irritation, and occasionally, swelling." []	212798	\N	\N	EFO	1	EFO	contact dermatitis	occupational dermatitis
EFO:0003785	EFO:0005319	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1000744	"an inflammation of the skin caused by the working environment or by skin contact with a damaging substance. The symptoms and seriousness of the condition vary widely. Symptoms usually begin with redness and irritation, and occasionally, swelling." []	566514	\N	\N	EFO	2	EFO	allergy	occupational dermatitis
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000744	"an inflammation of the skin caused by the working environment or by skin contact with a damaging substance. The symptoms and seriousness of the condition vary widely. Symptoms usually begin with redness and irritation, and occasionally, swelling." []	1147919	\N	\N	EFO	3	EFO	immune system disease	occupational dermatitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000744	"an inflammation of the skin caused by the working environment or by skin contact with a damaging substance. The symptoms and seriousness of the condition vary widely. Symptoms usually begin with redness and irritation, and occasionally, swelling." []	2030205	\N	\N	EFO	4	EFO	disease	occupational dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000744	"an inflammation of the skin caused by the working environment or by skin contact with a damaging substance. The symptoms and seriousness of the condition vary widely. Symptoms usually begin with redness and irritation, and occasionally, swelling." []	3180897	\N	\N	EFO	5	EFO	disposition	occupational dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000744	"an inflammation of the skin caused by the working environment or by skin contact with a damaging substance. The symptoms and seriousness of the condition vary widely. Symptoms usually begin with redness and irritation, and occasionally, swelling." []	4389465	\N	\N	EFO	6	EFO	material property	occupational dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000744	"an inflammation of the skin caused by the working environment or by skin contact with a damaging substance. The symptoms and seriousness of the condition vary widely. Symptoms usually begin with redness and irritation, and occasionally, swelling." []	5409310	\N	\N	EFO	7	EFO	experimental factor	occupational dermatitis
EFO:1000745	\N	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	EFO:1000745	"A keratosis characterized by abnormal thickening of the palms and the soles." []	70333	\N	\N	EFO	0	EFO	palmoplantar keratosis	palmoplantar keratosis
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000745	"A keratosis characterized by abnormal thickening of the palms and the soles." []	212799	\N	\N	EFO	1	EFO	keratosis	palmoplantar keratosis
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000745	"A keratosis characterized by abnormal thickening of the palms and the soles." []	566515	\N	\N	EFO	2	EFO	skin disease	palmoplantar keratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000745	"A keratosis characterized by abnormal thickening of the palms and the soles." []	1147920	\N	\N	EFO	3	EFO	disease	palmoplantar keratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000745	"A keratosis characterized by abnormal thickening of the palms and the soles." []	2030206	\N	\N	EFO	4	EFO	disposition	palmoplantar keratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000745	"A keratosis characterized by abnormal thickening of the palms and the soles." []	3180898	\N	\N	EFO	5	EFO	material property	palmoplantar keratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000745	"A keratosis characterized by abnormal thickening of the palms and the soles." []	4389466	\N	\N	EFO	6	EFO	experimental factor	palmoplantar keratosis
EFO:1000746	\N	\N	"a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue." []	EFO:1000746	"a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue." []	70334	\N	\N	EFO	0	EFO	panniculitis	panniculitis
EFO:0000701	EFO:1000746	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000746	"a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue." []	212800	\N	\N	EFO	1	EFO	skin disease	panniculitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000746	"a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue." []	566516	\N	\N	EFO	2	EFO	disease	panniculitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000746	"a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue." []	1147921	\N	\N	EFO	3	EFO	disposition	panniculitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000746	"a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue." []	2030207	\N	\N	EFO	4	EFO	material property	panniculitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000746	"a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue." []	3180899	\N	\N	EFO	5	EFO	experimental factor	panniculitis
EFO:1000747	\N	\N	"one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma." []	EFO:1000747	"one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma." []	70335	\N	\N	EFO	0	EFO	parapsoriasis	parapsoriasis
EFO:0000676	EFO:1000747	\N	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	EFO:1000747	"one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma." []	212801	\N	\N	EFO	1	EFO	psoriasis	parapsoriasis
EFO:0000540	EFO:0000676	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000747	"one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma." []	566517	\N	\N	EFO	2	EFO	immune system disease	parapsoriasis
EFO:1000636	EFO:0000676	\N	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	EFO:1000747	"one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma." []	566518	\N	\N	EFO	2	EFO	inflammatory skin disease	parapsoriasis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000747	"one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma." []	1147922	\N	\N	EFO	3	EFO	disease	parapsoriasis
EFO:0000701	EFO:1000636	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000747	"one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma." []	1147923	\N	\N	EFO	3	EFO	skin disease	parapsoriasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000747	"one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma." []	3180901	\N	\N	EFO	5	EFO	disposition	parapsoriasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000747	"one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma." []	2030209	\N	\N	EFO	4	EFO	disease	parapsoriasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000747	"one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma." []	4133049	\N	\N	EFO	6	EFO	material property	parapsoriasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000747	"one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma." []	5181295	\N	\N	EFO	7	EFO	experimental factor	parapsoriasis
EFO:1000748	\N	\N	"a disease of unknown cause, characterized by overgrowth of mature, nonmalignant fat cells in the pelvic region, especially in perivesical and perirectal spaces." []	EFO:1000748	"a disease of unknown cause, characterized by overgrowth of mature, nonmalignant fat cells in the pelvic region, especially in perivesical and perirectal spaces." []	70336	\N	\N	EFO	0	EFO	pelvic lipomatosis	pelvic lipomatosis
EFO:1000728	EFO:1000748	\N	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	EFO:1000748	"a disease of unknown cause, characterized by overgrowth of mature, nonmalignant fat cells in the pelvic region, especially in perivesical and perirectal spaces." []	212802	\N	\N	EFO	1	EFO	lipomatosis	pelvic lipomatosis
EFO:0000701	EFO:1000728	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000748	"a disease of unknown cause, characterized by overgrowth of mature, nonmalignant fat cells in the pelvic region, especially in perivesical and perirectal spaces." []	566519	\N	\N	EFO	2	EFO	skin disease	pelvic lipomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000748	"a disease of unknown cause, characterized by overgrowth of mature, nonmalignant fat cells in the pelvic region, especially in perivesical and perirectal spaces." []	1147924	\N	\N	EFO	3	EFO	disease	pelvic lipomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000748	"a disease of unknown cause, characterized by overgrowth of mature, nonmalignant fat cells in the pelvic region, especially in perivesical and perirectal spaces." []	2030210	\N	\N	EFO	4	EFO	disposition	pelvic lipomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000748	"a disease of unknown cause, characterized by overgrowth of mature, nonmalignant fat cells in the pelvic region, especially in perivesical and perirectal spaces." []	3180902	\N	\N	EFO	5	EFO	material property	pelvic lipomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000748	"a disease of unknown cause, characterized by overgrowth of mature, nonmalignant fat cells in the pelvic region, especially in perivesical and perirectal spaces." []	4389468	\N	\N	EFO	6	EFO	experimental factor	pelvic lipomatosis
EFO:1000749	\N	\N	"a rare group of blistering autoimmune diseases that affect the skin and mucous membranes." []	EFO:1000749	"a rare group of blistering autoimmune diseases that affect the skin and mucous membranes." []	70337	\N	\N	EFO	0	EFO	pemphigus	pemphigus
EFO:1000673	EFO:1000749	\N	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	EFO:1000749	"a rare group of blistering autoimmune diseases that affect the skin and mucous membranes." []	212803	\N	\N	EFO	1	EFO	bullous skin disease	pemphigus
EFO:0000701	EFO:1000673	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000749	"a rare group of blistering autoimmune diseases that affect the skin and mucous membranes." []	566520	\N	\N	EFO	2	EFO	skin disease	pemphigus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000749	"a rare group of blistering autoimmune diseases that affect the skin and mucous membranes." []	1147925	\N	\N	EFO	3	EFO	disease	pemphigus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000749	"a rare group of blistering autoimmune diseases that affect the skin and mucous membranes." []	2030211	\N	\N	EFO	4	EFO	disposition	pemphigus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000749	"a rare group of blistering autoimmune diseases that affect the skin and mucous membranes." []	3180903	\N	\N	EFO	5	EFO	material property	pemphigus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000749	"a rare group of blistering autoimmune diseases that affect the skin and mucous membranes." []	4389469	\N	\N	EFO	6	EFO	experimental factor	pemphigus
EFO:1000750	\N	\N	"jaundice in perinates due to cellular damange of liver" []	EFO:1000750	"jaundice in perinates due to cellular damange of liver" []	70338	\N	\N	EFO	0	EFO	perinatal jaundice due to hepatocellular damage	perinatal jaundice due to hepatocellular damage
EFO:1000739	EFO:1000750	\N	"A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." []	EFO:1000750	"jaundice in perinates due to cellular damange of liver" []	212804	\N	\N	EFO	1	EFO	neonatal jaundice	perinatal jaundice due to hepatocellular damage
EFO:1000755	EFO:1000739	\N	"a group of diseases affecting the color of skin" []	EFO:1000750	"jaundice in perinates due to cellular damange of liver" []	566521	\N	\N	EFO	2	EFO	pigmentation disease	perinatal jaundice due to hepatocellular damage
EFO:0000701	EFO:1000755	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000750	"jaundice in perinates due to cellular damange of liver" []	1147926	\N	\N	EFO	3	EFO	skin disease	perinatal jaundice due to hepatocellular damage
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000750	"jaundice in perinates due to cellular damange of liver" []	2030212	\N	\N	EFO	4	EFO	disease	perinatal jaundice due to hepatocellular damage
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000750	"jaundice in perinates due to cellular damange of liver" []	3180904	\N	\N	EFO	5	EFO	disposition	perinatal jaundice due to hepatocellular damage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000750	"jaundice in perinates due to cellular damange of liver" []	4389470	\N	\N	EFO	6	EFO	material property	perinatal jaundice due to hepatocellular damage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000750	"jaundice in perinates due to cellular damange of liver" []	5409311	\N	\N	EFO	7	EFO	experimental factor	perinatal jaundice due to hepatocellular damage
EFO:1000752	\N	\N	"Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." []	EFO:1000752	"Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." []	70339	\N	\N	EFO	0	EFO	photosensitivity disease	photosensitivity disease
EFO:0000701	EFO:1000752	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000752	"Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." []	212805	\N	\N	EFO	1	EFO	skin disease	photosensitivity disease
EFO:0003785	EFO:1000752	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1000752	"Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." []	212806	\N	\N	EFO	1	EFO	allergy	photosensitivity disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000752	"Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." []	566522	\N	\N	EFO	2	EFO	disease	photosensitivity disease
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000752	"Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." []	566523	\N	\N	EFO	2	EFO	immune system disease	photosensitivity disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000752	"Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." []	2030214	\N	\N	EFO	4	EFO	disposition	photosensitivity disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000752	"Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." []	1147928	\N	\N	EFO	3	EFO	disease	photosensitivity disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000752	"Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." []	3000053	\N	\N	EFO	5	EFO	material property	photosensitivity disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000752	"Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." []	4133050	\N	\N	EFO	6	EFO	experimental factor	photosensitivity disease
EFO:1000753	\N	\N	"a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." []	EFO:1000753	"a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." []	70340	\N	\N	EFO	0	EFO	phototoxic dermatitis	phototoxic dermatitis
EFO:1000752	EFO:1000753	\N	"Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight." []	EFO:1000753	"a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." []	212807	\N	\N	EFO	1	EFO	photosensitivity disease	phototoxic dermatitis
EFO:0000701	EFO:1000752	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000753	"a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." []	566524	\N	\N	EFO	2	EFO	skin disease	phototoxic dermatitis
EFO:0003785	EFO:1000752	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1000753	"a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." []	566525	\N	\N	EFO	2	EFO	allergy	phototoxic dermatitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000753	"a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." []	1147929	\N	\N	EFO	3	EFO	disease	phototoxic dermatitis
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000753	"a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." []	1147930	\N	\N	EFO	3	EFO	immune system disease	phototoxic dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000753	"a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." []	3180907	\N	\N	EFO	5	EFO	disposition	phototoxic dermatitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000753	"a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." []	2030216	\N	\N	EFO	4	EFO	disease	phototoxic dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000753	"a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." []	4133051	\N	\N	EFO	6	EFO	material property	phototoxic dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000753	"a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die." []	5181296	\N	\N	EFO	7	EFO	experimental factor	phototoxic dermatitis
EFO:1000754	\N	\N	"An urticaria induced by external physical influences." []	EFO:1000754	"An urticaria induced by external physical influences." []	70341	\N	\N	EFO	0	EFO	physical urticaria	physical urticaria
EFO:0005531	EFO:1000754	\N	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	EFO:1000754	"An urticaria induced by external physical influences." []	212808	\N	\N	EFO	1	EFO	urticaria	physical urticaria
EFO:0000701	EFO:0005531	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000754	"An urticaria induced by external physical influences." []	566526	\N	\N	EFO	2	EFO	skin disease	physical urticaria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000754	"An urticaria induced by external physical influences." []	1147931	\N	\N	EFO	3	EFO	disease	physical urticaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000754	"An urticaria induced by external physical influences." []	2030217	\N	\N	EFO	4	EFO	disposition	physical urticaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000754	"An urticaria induced by external physical influences." []	3180908	\N	\N	EFO	5	EFO	material property	physical urticaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000754	"An urticaria induced by external physical influences." []	4389472	\N	\N	EFO	6	EFO	experimental factor	physical urticaria
EFO:1000755	\N	\N	"a group of diseases affecting the color of skin" []	EFO:1000755	"a group of diseases affecting the color of skin" []	70342	\N	\N	EFO	0	EFO	pigmentation disease	pigmentation disease
EFO:0000701	EFO:1000755	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000755	"a group of diseases affecting the color of skin" []	212809	\N	\N	EFO	1	EFO	skin disease	pigmentation disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000755	"a group of diseases affecting the color of skin" []	566527	\N	\N	EFO	2	EFO	disease	pigmentation disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000755	"a group of diseases affecting the color of skin" []	1147932	\N	\N	EFO	3	EFO	disposition	pigmentation disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000755	"a group of diseases affecting the color of skin" []	2030218	\N	\N	EFO	4	EFO	material property	pigmentation disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000755	"a group of diseases affecting the color of skin" []	3180909	\N	\N	EFO	5	EFO	experimental factor	pigmentation disease
EFO:1000756	\N	\N	"a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \\"herald patch\\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." []	EFO:1000756	"a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \\"herald patch\\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." []	70343	\N	\N	EFO	0	EFO	pityriasis rosea	pityriasis rosea
EFO:0000676	EFO:1000756	\N	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	EFO:1000756	"a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \\"herald patch\\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." []	212810	\N	\N	EFO	1	EFO	psoriasis	pityriasis rosea
EFO:0000540	EFO:0000676	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000756	"a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \\"herald patch\\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." []	566528	\N	\N	EFO	2	EFO	immune system disease	pityriasis rosea
EFO:1000636	EFO:0000676	\N	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	EFO:1000756	"a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \\"herald patch\\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." []	566529	\N	\N	EFO	2	EFO	inflammatory skin disease	pityriasis rosea
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000756	"a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \\"herald patch\\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." []	1147933	\N	\N	EFO	3	EFO	disease	pityriasis rosea
EFO:0000701	EFO:1000636	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000756	"a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \\"herald patch\\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." []	1147934	\N	\N	EFO	3	EFO	skin disease	pityriasis rosea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000756	"a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \\"herald patch\\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." []	3180911	\N	\N	EFO	5	EFO	disposition	pityriasis rosea
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000756	"a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \\"herald patch\\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." []	2030220	\N	\N	EFO	4	EFO	disease	pityriasis rosea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000756	"a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \\"herald patch\\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." []	4133052	\N	\N	EFO	6	EFO	material property	pityriasis rosea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000756	"a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \\"herald patch\\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8." []	5181297	\N	\N	EFO	7	EFO	experimental factor	pityriasis rosea
EFO:1000757	\N	\N	"a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer." []	EFO:1000757	"a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer." []	70344	\N	\N	EFO	0	EFO	porokeratosis	porokeratosis
EFO:1000720	EFO:1000757	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000757	"a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer." []	212811	\N	\N	EFO	1	EFO	keratosis	porokeratosis
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000757	"a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer." []	566530	\N	\N	EFO	2	EFO	skin disease	porokeratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000757	"a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer." []	1147935	\N	\N	EFO	3	EFO	disease	porokeratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000757	"a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer." []	2030221	\N	\N	EFO	4	EFO	disposition	porokeratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000757	"a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer." []	3180912	\N	\N	EFO	5	EFO	material property	porokeratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000757	"a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer." []	4389474	\N	\N	EFO	6	EFO	experimental factor	porokeratosis
EFO:1000758	\N	\N	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	70345	\N	\N	EFO	0	EFO	punctate palmoplantar keratoderma type III	punctate palmoplantar keratoderma type III
Orphanet:307967	EFO:1000758	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	212812	\N	\N	EFO	1	EFO	Punctate palmoplantar keratoderma	punctate palmoplantar keratoderma type III
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	566531	\N	\N	EFO	2	EFO	palmoplantar keratosis	punctate palmoplantar keratoderma type III
Orphanet:79357	Orphanet:307967	\N	"" []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	566532	\N	\N	EFO	2	EFO	Hereditary palmoplantar keratoderma	punctate palmoplantar keratoderma type III
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	1147936	\N	\N	EFO	3	EFO	keratosis	punctate palmoplantar keratoderma type III
Orphanet:183426	Orphanet:79357	\N	"" []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	1147937	\N	\N	EFO	3	EFO	Genetic epidermal disorder	punctate palmoplantar keratoderma type III
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	2030222	\N	\N	EFO	4	EFO	skin disease	punctate palmoplantar keratoderma type III
Orphanet:68346	Orphanet:183426	\N	"" []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	2030223	\N	\N	EFO	4	EFO	Rare genetic skin disease	punctate palmoplantar keratoderma type III
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	4389477	\N	\N	EFO	6	EFO	disease	punctate palmoplantar keratoderma type III
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	3180914	\N	\N	EFO	5	EFO	genetic disorder	punctate palmoplantar keratoderma type III
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	3180915	\N	\N	EFO	5	EFO	skin disease	punctate palmoplantar keratoderma type III
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	5181298	\N	\N	EFO	7	EFO	disposition	punctate palmoplantar keratoderma type III
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	4389476	\N	\N	EFO	6	EFO	disease	punctate palmoplantar keratoderma type III
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	5996734	\N	\N	EFO	8	EFO	material property	punctate palmoplantar keratoderma type III
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000758	"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costas acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." []	6550410	\N	\N	EFO	9	EFO	experimental factor	punctate palmoplantar keratoderma type III
EFO:1000759	\N	\N	"A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." []	EFO:1000759	"A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." []	70346	\N	\N	EFO	0	EFO	reactive cutaneous fibrous lesion	reactive cutaneous fibrous lesion
EFO:0000701	EFO:1000759	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000759	"A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." []	212813	\N	\N	EFO	1	EFO	skin disease	reactive cutaneous fibrous lesion
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000759	"A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." []	566533	\N	\N	EFO	2	EFO	disease	reactive cutaneous fibrous lesion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000759	"A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." []	1147938	\N	\N	EFO	3	EFO	disposition	reactive cutaneous fibrous lesion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000759	"A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." []	2030224	\N	\N	EFO	4	EFO	material property	reactive cutaneous fibrous lesion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000759	"A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." []	3180916	\N	\N	EFO	5	EFO	experimental factor	reactive cutaneous fibrous lesion
EFO:1000760	\N	\N	"a chronic skin condition characterized by facial redness, small and superficial dilated blood vessels on facial skin, papules, pustules, and swelling." []	EFO:1000760	"a chronic skin condition characterized by facial redness, small and superficial dilated blood vessels on facial skin, papules, pustules, and swelling." []	70347	\N	\N	EFO	0	EFO	rosacea	rosacea
EFO:0000701	EFO:1000760	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000760	"a chronic skin condition characterized by facial redness, small and superficial dilated blood vessels on facial skin, papules, pustules, and swelling." []	212814	\N	\N	EFO	1	EFO	skin disease	rosacea
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000760	"a chronic skin condition characterized by facial redness, small and superficial dilated blood vessels on facial skin, papules, pustules, and swelling." []	566534	\N	\N	EFO	2	EFO	disease	rosacea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000760	"a chronic skin condition characterized by facial redness, small and superficial dilated blood vessels on facial skin, papules, pustules, and swelling." []	1147939	\N	\N	EFO	3	EFO	disposition	rosacea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000760	"a chronic skin condition characterized by facial redness, small and superficial dilated blood vessels on facial skin, papules, pustules, and swelling." []	2030225	\N	\N	EFO	4	EFO	material property	rosacea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000760	"a chronic skin condition characterized by facial redness, small and superficial dilated blood vessels on facial skin, papules, pustules, and swelling." []	3180917	\N	\N	EFO	5	EFO	experimental factor	rosacea
EFO:1000761	\N	\N	"dermotosis of scalp" []	EFO:1000761	"dermotosis of scalp" []	70348	\N	\N	EFO	0	EFO	scalp dermatosis	scalp dermatosis
EFO:0000701	EFO:1000761	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000761	"dermotosis of scalp" []	212815	\N	\N	EFO	1	EFO	skin disease	scalp dermatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000761	"dermotosis of scalp" []	566535	\N	\N	EFO	2	EFO	disease	scalp dermatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000761	"dermotosis of scalp" []	1147940	\N	\N	EFO	3	EFO	disposition	scalp dermatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000761	"dermotosis of scalp" []	2030226	\N	\N	EFO	4	EFO	material property	scalp dermatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000761	"dermotosis of scalp" []	3180918	\N	\N	EFO	5	EFO	experimental factor	scalp dermatosis
EFO:1000762	\N	\N	"symmetrical hardening and thickening of the dermal or middle layer of the skin with mucin deposits between collagen bundles, occurs in diabetics, particularly adult men, and is very persistent. The skin of the neck and upper back slowly thickens over months or years." []	EFO:1000762	"symmetrical hardening and thickening of the dermal or middle layer of the skin with mucin deposits between collagen bundles, occurs in diabetics, particularly adult men, and is very persistent. The skin of the neck and upper back slowly thickens over months or years." []	70349	\N	\N	EFO	0	EFO	scleredema adultorum	scleredema adultorum
EFO:0000701	EFO:1000762	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000762	"symmetrical hardening and thickening of the dermal or middle layer of the skin with mucin deposits between collagen bundles, occurs in diabetics, particularly adult men, and is very persistent. The skin of the neck and upper back slowly thickens over months or years." []	212816	\N	\N	EFO	1	EFO	skin disease	scleredema adultorum
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000762	"symmetrical hardening and thickening of the dermal or middle layer of the skin with mucin deposits between collagen bundles, occurs in diabetics, particularly adult men, and is very persistent. The skin of the neck and upper back slowly thickens over months or years." []	566536	\N	\N	EFO	2	EFO	disease	scleredema adultorum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000762	"symmetrical hardening and thickening of the dermal or middle layer of the skin with mucin deposits between collagen bundles, occurs in diabetics, particularly adult men, and is very persistent. The skin of the neck and upper back slowly thickens over months or years." []	1147941	\N	\N	EFO	3	EFO	disposition	scleredema adultorum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000762	"symmetrical hardening and thickening of the dermal or middle layer of the skin with mucin deposits between collagen bundles, occurs in diabetics, particularly adult men, and is very persistent. The skin of the neck and upper back slowly thickens over months or years." []	2030227	\N	\N	EFO	4	EFO	material property	scleredema adultorum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000762	"symmetrical hardening and thickening of the dermal or middle layer of the skin with mucin deposits between collagen bundles, occurs in diabetics, particularly adult men, and is very persistent. The skin of the neck and upper back slowly thickens over months or years." []	3180919	\N	\N	EFO	5	EFO	experimental factor	scleredema adultorum
EFO:1000763	\N	\N	"A skin disease that is located_in the sebaceous gland." []	EFO:1000763	"A skin disease that is located_in the sebaceous gland." []	70350	\N	\N	EFO	0	EFO	sebaceous gland disease	sebaceous gland disease
EFO:0000701	EFO:1000763	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000763	"A skin disease that is located_in the sebaceous gland." []	212817	\N	\N	EFO	1	EFO	skin disease	sebaceous gland disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000763	"A skin disease that is located_in the sebaceous gland." []	566537	\N	\N	EFO	2	EFO	disease	sebaceous gland disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000763	"A skin disease that is located_in the sebaceous gland." []	1147942	\N	\N	EFO	3	EFO	disposition	sebaceous gland disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000763	"A skin disease that is located_in the sebaceous gland." []	2030228	\N	\N	EFO	4	EFO	material property	sebaceous gland disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000763	"A skin disease that is located_in the sebaceous gland." []	3180920	\N	\N	EFO	5	EFO	experimental factor	sebaceous gland disease
EFO:1000764	\N	\N	"A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss." []	EFO:1000764	"A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss." []	70351	\N	\N	EFO	0	EFO	seborrheic dermatitis	seborrheic dermatitis
EFO:0000701	EFO:1000764	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000764	"A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss." []	212818	\N	\N	EFO	1	EFO	skin disease	seborrheic dermatitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000764	"A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss." []	566538	\N	\N	EFO	2	EFO	disease	seborrheic dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000764	"A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss." []	1147943	\N	\N	EFO	3	EFO	disposition	seborrheic dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000764	"A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss." []	2030229	\N	\N	EFO	4	EFO	material property	seborrheic dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000764	"A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss." []	3180921	\N	\N	EFO	5	EFO	experimental factor	seborrheic dermatitis
EFO:1000765	\N	\N	"A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp." []	EFO:1000765	"A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp." []	70352	\N	\N	EFO	0	EFO	seborrheic infantile dermatitis	seborrheic infantile dermatitis
EFO:1000764	EFO:1000765	\N	"A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss." []	EFO:1000765	"A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp." []	212819	\N	\N	EFO	1	EFO	seborrheic dermatitis	seborrheic infantile dermatitis
EFO:0000701	EFO:1000764	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000765	"A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp." []	566539	\N	\N	EFO	2	EFO	skin disease	seborrheic infantile dermatitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000765	"A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp." []	1147944	\N	\N	EFO	3	EFO	disease	seborrheic infantile dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000765	"A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp." []	2030230	\N	\N	EFO	4	EFO	disposition	seborrheic infantile dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000765	"A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp." []	3180922	\N	\N	EFO	5	EFO	material property	seborrheic infantile dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000765	"A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp." []	4389478	\N	\N	EFO	6	EFO	experimental factor	seborrheic infantile dermatitis
EFO:1000766	\N	\N	"The structural changes and the signs and symptoms of chronologically aged skinand those of corticosteroid induced chronicatrophyof theskinare partially very similar.Thinningof epidermis and laxity as well as dryness, purpura and echymoses occur in both conditions." []	EFO:1000766	"The structural changes and the signs and symptoms of chronologically aged skinand those of corticosteroid induced chronicatrophyof theskinare partially very similar.Thinningof epidermis and laxity as well as dryness, purpura and echymoses occur in both conditions." []	70353	\N	\N	EFO	0	EFO	skin atrophy	skin atrophy
EFO:0000701	EFO:1000766	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000766	"The structural changes and the signs and symptoms of chronologically aged skinand those of corticosteroid induced chronicatrophyof theskinare partially very similar.Thinningof epidermis and laxity as well as dryness, purpura and echymoses occur in both conditions." []	212820	\N	\N	EFO	1	EFO	skin disease	skin atrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000766	"The structural changes and the signs and symptoms of chronologically aged skinand those of corticosteroid induced chronicatrophyof theskinare partially very similar.Thinningof epidermis and laxity as well as dryness, purpura and echymoses occur in both conditions." []	566540	\N	\N	EFO	2	EFO	disease	skin atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000766	"The structural changes and the signs and symptoms of chronologically aged skinand those of corticosteroid induced chronicatrophyof theskinare partially very similar.Thinningof epidermis and laxity as well as dryness, purpura and echymoses occur in both conditions." []	1147945	\N	\N	EFO	3	EFO	disposition	skin atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000766	"The structural changes and the signs and symptoms of chronologically aged skinand those of corticosteroid induced chronicatrophyof theskinare partially very similar.Thinningof epidermis and laxity as well as dryness, purpura and echymoses occur in both conditions." []	2030231	\N	\N	EFO	4	EFO	material property	skin atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000766	"The structural changes and the signs and symptoms of chronologically aged skinand those of corticosteroid induced chronicatrophyof theskinare partially very similar.Thinningof epidermis and laxity as well as dryness, purpura and echymoses occur in both conditions." []	3180923	\N	\N	EFO	5	EFO	experimental factor	skin atrophy
EFO:1000767	\N	\N	"Sarcoidosis involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually resolve spontaneously in two to four weeks. Although it may be disfiguring, cutaneous sarcoidosis rarely causes major problems." []	EFO:1000767	"Sarcoidosis involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually resolve spontaneously in two to four weeks. Although it may be disfiguring, cutaneous sarcoidosis rarely causes major problems." []	70354	\N	\N	EFO	0	EFO	skin sarcoidosis	skin sarcoidosis
EFO:0000701	EFO:1000767	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000767	"Sarcoidosis involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually resolve spontaneously in two to four weeks. Although it may be disfiguring, cutaneous sarcoidosis rarely causes major problems." []	212821	\N	\N	EFO	1	EFO	skin disease	skin sarcoidosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000767	"Sarcoidosis involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually resolve spontaneously in two to four weeks. Although it may be disfiguring, cutaneous sarcoidosis rarely causes major problems." []	566541	\N	\N	EFO	2	EFO	disease	skin sarcoidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000767	"Sarcoidosis involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually resolve spontaneously in two to four weeks. Although it may be disfiguring, cutaneous sarcoidosis rarely causes major problems." []	1147946	\N	\N	EFO	3	EFO	disposition	skin sarcoidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000767	"Sarcoidosis involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually resolve spontaneously in two to four weeks. Although it may be disfiguring, cutaneous sarcoidosis rarely causes major problems." []	2030232	\N	\N	EFO	4	EFO	material property	skin sarcoidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000767	"Sarcoidosis involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually resolve spontaneously in two to four weeks. Although it may be disfiguring, cutaneous sarcoidosis rarely causes major problems." []	3180924	\N	\N	EFO	5	EFO	experimental factor	skin sarcoidosis
EFO:1000768	\N	\N	"A generic term for a broadly defined histopathologic pattern characterised by eczema, often associated with an increase in eosinophils occurring in a background of contact dermatitis, atopy and drug reactions." []	EFO:1000768	"A generic term for a broadly defined histopathologic pattern characterised by eczema, often associated with an increase in eosinophils occurring in a background of contact dermatitis, atopy and drug reactions." []	70355	\N	\N	EFO	0	EFO	spongiotic dermatitis	spongiotic dermatitis
HP:0000999	\N	\N	"Any manifestation of a skin disease associated with the production of pus." [HPO:probinson]	EFO:1000768	"A generic term for a broadly defined histopathologic pattern characterised by eczema, often associated with an increase in eosinophils occurring in a background of contact dermatitis, atopy and drug reactions." []	194947	\N	\N	EFO	0	EFO	Pyoderma	spongiotic dermatitis
EFO:1000769	\N	\N	"steroid-induced lipomatosis" []	EFO:1000769	"steroid-induced lipomatosis" []	70356	\N	\N	EFO	0	EFO	steroid lipomatosis	steroid lipomatosis
EFO:1000728	EFO:1000769	\N	"an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders." []	EFO:1000769	"steroid-induced lipomatosis" []	212822	\N	\N	EFO	1	EFO	lipomatosis	steroid lipomatosis
EFO:0000701	EFO:1000728	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000769	"steroid-induced lipomatosis" []	566542	\N	\N	EFO	2	EFO	skin disease	steroid lipomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000769	"steroid-induced lipomatosis" []	1147947	\N	\N	EFO	3	EFO	disease	steroid lipomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000769	"steroid-induced lipomatosis" []	2030233	\N	\N	EFO	4	EFO	disposition	steroid lipomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000769	"steroid-induced lipomatosis" []	3180925	\N	\N	EFO	5	EFO	material property	steroid lipomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000769	"steroid-induced lipomatosis" []	4389479	\N	\N	EFO	6	EFO	experimental factor	steroid lipomatosis
EFO:1000770	\N	\N	"stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." []	EFO:1000770	"stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." []	70357	\N	\N	EFO	0	EFO	stromal corneal pigmentation	stromal corneal pigmentation
EFO:1000755	EFO:1000770	\N	"a group of diseases affecting the color of skin" []	EFO:1000770	"stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." []	212823	\N	\N	EFO	1	EFO	pigmentation disease	stromal corneal pigmentation
EFO:0000701	EFO:1000755	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000770	"stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." []	566543	\N	\N	EFO	2	EFO	skin disease	stromal corneal pigmentation
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000770	"stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." []	1147948	\N	\N	EFO	3	EFO	disease	stromal corneal pigmentation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000770	"stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." []	2030234	\N	\N	EFO	4	EFO	disposition	stromal corneal pigmentation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000770	"stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." []	3180926	\N	\N	EFO	5	EFO	material property	stromal corneal pigmentation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000770	"stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." []	4389480	\N	\N	EFO	6	EFO	experimental factor	stromal corneal pigmentation
EFO:1000771	\N	\N	"a rare, benign, chronic relapsing sterile pustular eruption typically involving the flexural sites of the trunk and proximal extremities. It most commonly affects woman aged 40 years or older." []	EFO:1000771	"a rare, benign, chronic relapsing sterile pustular eruption typically involving the flexural sites of the trunk and proximal extremities. It most commonly affects woman aged 40 years or older." []	70358	\N	\N	EFO	0	EFO	subcorneal pustular dermatosis	subcorneal pustular dermatosis
EFO:1000673	EFO:1000771	\N	"An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." []	EFO:1000771	"a rare, benign, chronic relapsing sterile pustular eruption typically involving the flexural sites of the trunk and proximal extremities. It most commonly affects woman aged 40 years or older." []	212824	\N	\N	EFO	1	EFO	bullous skin disease	subcorneal pustular dermatosis
EFO:0000701	EFO:1000673	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000771	"a rare, benign, chronic relapsing sterile pustular eruption typically involving the flexural sites of the trunk and proximal extremities. It most commonly affects woman aged 40 years or older." []	566544	\N	\N	EFO	2	EFO	skin disease	subcorneal pustular dermatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000771	"a rare, benign, chronic relapsing sterile pustular eruption typically involving the flexural sites of the trunk and proximal extremities. It most commonly affects woman aged 40 years or older." []	1147949	\N	\N	EFO	3	EFO	disease	subcorneal pustular dermatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000771	"a rare, benign, chronic relapsing sterile pustular eruption typically involving the flexural sites of the trunk and proximal extremities. It most commonly affects woman aged 40 years or older." []	2030235	\N	\N	EFO	4	EFO	disposition	subcorneal pustular dermatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000771	"a rare, benign, chronic relapsing sterile pustular eruption typically involving the flexural sites of the trunk and proximal extremities. It most commonly affects woman aged 40 years or older." []	3180927	\N	\N	EFO	5	EFO	material property	subcorneal pustular dermatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000771	"a rare, benign, chronic relapsing sterile pustular eruption typically involving the flexural sites of the trunk and proximal extremities. It most commonly affects woman aged 40 years or older." []	4389481	\N	\N	EFO	6	EFO	experimental factor	subcorneal pustular dermatosis
EFO:1000772	\N	\N	"disorders or sweat glands" []	EFO:1000772	"disorders or sweat glands" []	70359	\N	\N	EFO	0	EFO	sweat gland disease	sweat gland disease
EFO:0000701	EFO:1000772	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000772	"disorders or sweat glands" []	212825	\N	\N	EFO	1	EFO	skin disease	sweat gland disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000772	"disorders or sweat glands" []	566545	\N	\N	EFO	2	EFO	disease	sweat gland disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000772	"disorders or sweat glands" []	1147950	\N	\N	EFO	3	EFO	disposition	sweat gland disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000772	"disorders or sweat glands" []	2030236	\N	\N	EFO	4	EFO	material property	sweat gland disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000772	"disorders or sweat glands" []	3180928	\N	\N	EFO	5	EFO	experimental factor	sweat gland disease
EFO:1000773	\N	\N	"an allergic contact dermatitis (allergic phytodermatitis) that occurs from exposure to members of the plant genus Toxicodendron." []	EFO:1000773	"an allergic contact dermatitis (allergic phytodermatitis) that occurs from exposure to members of the plant genus Toxicodendron." []	70360	\N	\N	EFO	0	EFO	toxicodendron dermatitis	toxicodendron dermatitis
EFO:1000668	EFO:1000773	\N	"A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." []	EFO:1000773	"an allergic contact dermatitis (allergic phytodermatitis) that occurs from exposure to members of the plant genus Toxicodendron." []	212826	\N	\N	EFO	1	EFO	allergic contact dermatitis	toxicodendron dermatitis
EFO:0005319	EFO:1000668	\N	"a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)" []	EFO:1000773	"an allergic contact dermatitis (allergic phytodermatitis) that occurs from exposure to members of the plant genus Toxicodendron." []	566546	\N	\N	EFO	2	EFO	contact dermatitis	toxicodendron dermatitis
EFO:0003785	EFO:0005319	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1000773	"an allergic contact dermatitis (allergic phytodermatitis) that occurs from exposure to members of the plant genus Toxicodendron." []	1147951	\N	\N	EFO	3	EFO	allergy	toxicodendron dermatitis
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000773	"an allergic contact dermatitis (allergic phytodermatitis) that occurs from exposure to members of the plant genus Toxicodendron." []	2030237	\N	\N	EFO	4	EFO	immune system disease	toxicodendron dermatitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000773	"an allergic contact dermatitis (allergic phytodermatitis) that occurs from exposure to members of the plant genus Toxicodendron." []	3180929	\N	\N	EFO	5	EFO	disease	toxicodendron dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000773	"an allergic contact dermatitis (allergic phytodermatitis) that occurs from exposure to members of the plant genus Toxicodendron." []	4389482	\N	\N	EFO	6	EFO	disposition	toxicodendron dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000773	"an allergic contact dermatitis (allergic phytodermatitis) that occurs from exposure to members of the plant genus Toxicodendron." []	5409313	\N	\N	EFO	7	EFO	material property	toxicodendron dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000773	"an allergic contact dermatitis (allergic phytodermatitis) that occurs from exposure to members of the plant genus Toxicodendron." []	6147623	\N	\N	EFO	8	EFO	experimental factor	toxicodendron dermatitis
EFO:1000774	\N	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	EFO:1000774	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	70361	\N	\N	EFO	0	EFO	vesiculobullous skin disease	vesiculobullous skin disease
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000774	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	212827	\N	\N	EFO	1	EFO	skin disease	vesiculobullous skin disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000774	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	566547	\N	\N	EFO	2	EFO	disease	vesiculobullous skin disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000774	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	1147952	\N	\N	EFO	3	EFO	disposition	vesiculobullous skin disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000774	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	2030238	\N	\N	EFO	4	EFO	material property	vesiculobullous skin disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000774	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	3180930	\N	\N	EFO	5	EFO	experimental factor	vesiculobullous skin disease
EFO:1000775	\N	\N	"This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[" []	EFO:1000775	"This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[" []	70362	\N	\N	EFO	0	EFO	vibratory urticaria	vibratory urticaria
EFO:1000754	EFO:1000775	\N	"An urticaria induced by external physical influences." []	EFO:1000775	"This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[" []	212828	\N	\N	EFO	1	EFO	physical urticaria	vibratory urticaria
EFO:0005531	EFO:1000754	\N	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	EFO:1000775	"This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[" []	566548	\N	\N	EFO	2	EFO	urticaria	vibratory urticaria
EFO:0000701	EFO:0005531	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000775	"This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[" []	1147953	\N	\N	EFO	3	EFO	skin disease	vibratory urticaria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000775	"This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[" []	2030239	\N	\N	EFO	4	EFO	disease	vibratory urticaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000775	"This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[" []	3180931	\N	\N	EFO	5	EFO	disposition	vibratory urticaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000775	"This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[" []	4389483	\N	\N	EFO	6	EFO	material property	vibratory urticaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000775	"This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[" []	5409314	\N	\N	EFO	7	EFO	experimental factor	vibratory urticaria
EFO:1000776	\N	\N	"a virus-induced exanthem" []	EFO:1000776	"a virus-induced exanthem" []	70363	\N	\N	EFO	0	EFO	viral exanthem	viral exanthem
EFO:1000697	EFO:1000776	\N	"a widespread rash usually occurring in children but can occur in adults. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease. It can be contrasted with an enanthem." []	EFO:1000776	"a virus-induced exanthem" []	212829	\N	\N	EFO	1	EFO	exanthem	viral exanthem
EFO:0000701	EFO:1000697	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000776	"a virus-induced exanthem" []	566549	\N	\N	EFO	2	EFO	skin disease	viral exanthem
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000776	"a virus-induced exanthem" []	1147954	\N	\N	EFO	3	EFO	disease	viral exanthem
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000776	"a virus-induced exanthem" []	2030240	\N	\N	EFO	4	EFO	disposition	viral exanthem
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000776	"a virus-induced exanthem" []	3180932	\N	\N	EFO	5	EFO	material property	viral exanthem
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000776	"a virus-induced exanthem" []	4389484	\N	\N	EFO	6	EFO	experimental factor	viral exanthem
EFO:1000777	\N	\N	"Polyp composed of a central core of fibrous tissue containing irregular shaped thin walled vessels and stellate cells. The overlying squamous epithelium may display reactive changes, but without papillomatous architecture or koilocytosis" []	EFO:1000777	"Polyp composed of a central core of fibrous tissue containing irregular shaped thin walled vessels and stellate cells. The overlying squamous epithelium may display reactive changes, but without papillomatous architecture or koilocytosis" []	70364	\N	\N	EFO	0	EFO	vulva fibroepithelial polyp	vulva fibroepithelial polyp
EFO:0000662	EFO:1000777	\N	"Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." []	EFO:1000777	"Polyp composed of a central core of fibrous tissue containing irregular shaped thin walled vessels and stellate cells. The overlying squamous epithelium may display reactive changes, but without papillomatous architecture or koilocytosis" []	212830	\N	\N	EFO	1	EFO	polyp	vulva fibroepithelial polyp
EFO:0000616	EFO:0000662	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000777	"Polyp composed of a central core of fibrous tissue containing irregular shaped thin walled vessels and stellate cells. The overlying squamous epithelium may display reactive changes, but without papillomatous architecture or koilocytosis" []	566550	\N	\N	EFO	2	EFO	neoplasm	vulva fibroepithelial polyp
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000777	"Polyp composed of a central core of fibrous tissue containing irregular shaped thin walled vessels and stellate cells. The overlying squamous epithelium may display reactive changes, but without papillomatous architecture or koilocytosis" []	1147955	\N	\N	EFO	3	EFO	disease	vulva fibroepithelial polyp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000777	"Polyp composed of a central core of fibrous tissue containing irregular shaped thin walled vessels and stellate cells. The overlying squamous epithelium may display reactive changes, but without papillomatous architecture or koilocytosis" []	2030241	\N	\N	EFO	4	EFO	disposition	vulva fibroepithelial polyp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000777	"Polyp composed of a central core of fibrous tissue containing irregular shaped thin walled vessels and stellate cells. The overlying squamous epithelium may display reactive changes, but without papillomatous architecture or koilocytosis" []	3180933	\N	\N	EFO	5	EFO	material property	vulva fibroepithelial polyp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000777	"Polyp composed of a central core of fibrous tissue containing irregular shaped thin walled vessels and stellate cells. The overlying squamous epithelium may display reactive changes, but without papillomatous architecture or koilocytosis" []	4389485	\N	\N	EFO	6	EFO	experimental factor	vulva fibroepithelial polyp
EFO:1000778	\N	\N	"Inverted follicular keratosis of the vulvar skin" []	EFO:1000778	"Inverted follicular keratosis of the vulvar skin" []	70365	\N	\N	EFO	0	EFO	vulvar inverted follicular keratosis	vulvar inverted follicular keratosis
EFO:1000717	EFO:1000778	\N	"a cutaneous condition characterized by asymptomatic, firm, whitetan to pink papules." []	EFO:1000778	"Inverted follicular keratosis of the vulvar skin" []	212831	\N	\N	EFO	1	EFO	inverted follicular keratosis	vulvar inverted follicular keratosis
EFO:1000779	EFO:1000778	\N	"pigmented vulvar lesions categorized with seborrheic keratosis" []	EFO:1000778	"Inverted follicular keratosis of the vulvar skin" []	212832	\N	\N	EFO	1	EFO	vulvar seborrheic keratosis	vulvar inverted follicular keratosis
EFO:0005584	EFO:1000717	\N	"seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \\"barnacles of old age\\".\\n\\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \\"pasted on\\" appearance." []	EFO:1000778	"Inverted follicular keratosis of the vulvar skin" []	566551	\N	\N	EFO	2	EFO	seborrheic keratosis	vulvar inverted follicular keratosis
EFO:0005584	EFO:1000779	\N	"seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \\"barnacles of old age\\".\\n\\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \\"pasted on\\" appearance." []	EFO:1000778	"Inverted follicular keratosis of the vulvar skin" []	566552	\N	\N	EFO	2	EFO	seborrheic keratosis	vulvar inverted follicular keratosis
EFO:0000701	EFO:0005584	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000778	"Inverted follicular keratosis of the vulvar skin" []	1147956	\N	\N	EFO	3	EFO	skin disease	vulvar inverted follicular keratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000778	"Inverted follicular keratosis of the vulvar skin" []	2030242	\N	\N	EFO	4	EFO	disease	vulvar inverted follicular keratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000778	"Inverted follicular keratosis of the vulvar skin" []	3180934	\N	\N	EFO	5	EFO	disposition	vulvar inverted follicular keratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000778	"Inverted follicular keratosis of the vulvar skin" []	4389486	\N	\N	EFO	6	EFO	material property	vulvar inverted follicular keratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000778	"Inverted follicular keratosis of the vulvar skin" []	5409315	\N	\N	EFO	7	EFO	experimental factor	vulvar inverted follicular keratosis
EFO:1000779	\N	\N	"pigmented vulvar lesions categorized with seborrheic keratosis" []	EFO:1000779	"pigmented vulvar lesions categorized with seborrheic keratosis" []	70366	\N	\N	EFO	0	EFO	vulvar seborrheic keratosis	vulvar seborrheic keratosis
EFO:0005584	EFO:1000779	\N	"seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \\"barnacles of old age\\".\\n\\nThe lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \\"pasted on\\" appearance." []	EFO:1000779	"pigmented vulvar lesions categorized with seborrheic keratosis" []	212833	\N	\N	EFO	1	EFO	seborrheic keratosis	vulvar seborrheic keratosis
EFO:0000701	EFO:0005584	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000779	"pigmented vulvar lesions categorized with seborrheic keratosis" []	566553	\N	\N	EFO	2	EFO	skin disease	vulvar seborrheic keratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000779	"pigmented vulvar lesions categorized with seborrheic keratosis" []	1147957	\N	\N	EFO	3	EFO	disease	vulvar seborrheic keratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000779	"pigmented vulvar lesions categorized with seborrheic keratosis" []	2030243	\N	\N	EFO	4	EFO	disposition	vulvar seborrheic keratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000779	"pigmented vulvar lesions categorized with seborrheic keratosis" []	3180935	\N	\N	EFO	5	EFO	material property	vulvar seborrheic keratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000779	"pigmented vulvar lesions categorized with seborrheic keratosis" []	4389487	\N	\N	EFO	6	EFO	experimental factor	vulvar seborrheic keratosis
EFO:1000780	\N	\N	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	EFO:1000780	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	70367	\N	\N	EFO	0	EFO	autoimmune pancreatitis type 1	autoimmune pancreatitis type 1
EFO:0000342	EFO:1000780	\N	"INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." []	EFO:1000780	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	212834	\N	\N	EFO	1	EFO	chronic pancreatitis	autoimmune pancreatitis type 1
EFO:0000540	EFO:1000780	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000780	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	212835	\N	\N	EFO	1	EFO	immune system disease	autoimmune pancreatitis type 1
EFO:0000278	EFO:0000342	\N	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	EFO:1000780	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	566554	\N	\N	EFO	2	EFO	pancreatitis	autoimmune pancreatitis type 1
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000780	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	566555	\N	\N	EFO	2	EFO	disease	autoimmune pancreatitis type 1
EFO:0000405	EFO:0000278	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000780	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	1147958	\N	\N	EFO	3	EFO	digestive system disease	autoimmune pancreatitis type 1
EFO:0001379	EFO:0000278	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000780	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	1147959	\N	\N	EFO	3	EFO	endocrine system disease	autoimmune pancreatitis type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000780	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	3180936	\N	\N	EFO	5	EFO	disposition	autoimmune pancreatitis type 1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000780	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	2030244	\N	\N	EFO	4	EFO	disease	autoimmune pancreatitis type 1
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000780	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	2030245	\N	\N	EFO	4	EFO	disease	autoimmune pancreatitis type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000780	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	4066808	\N	\N	EFO	6	EFO	material property	autoimmune pancreatitis type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000780	"Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state." []	5059497	\N	\N	EFO	7	EFO	experimental factor	autoimmune pancreatitis type 1
EFO:1000781	\N	\N	"Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. Urinary incontinence may or may not be present." []	EFO:1000781	"Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. Urinary incontinence may or may not be present." []	70368	\N	\N	EFO	0	EFO	overactive bladder	overactive bladder
EFO:1000018	EFO:1000781	\N	"A disorder affecting the urinary bladder" []	EFO:1000781	"Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. Urinary incontinence may or may not be present." []	212836	\N	\N	EFO	1	EFO	bladder disease	overactive bladder
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000781	"Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. Urinary incontinence may or may not be present." []	566556	\N	\N	EFO	2	EFO	disease	overactive bladder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000781	"Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. Urinary incontinence may or may not be present." []	1147961	\N	\N	EFO	3	EFO	disposition	overactive bladder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000781	"Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. Urinary incontinence may or may not be present." []	2030247	\N	\N	EFO	4	EFO	material property	overactive bladder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000781	"Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. Urinary incontinence may or may not be present." []	3180938	\N	\N	EFO	5	EFO	experimental factor	overactive bladder
EFO:1000782	\N	\N	"a pathological effect of high altitude on humans, caused by acute exposure to low partial pressure of oxygen at high altitude. It commonly occurs above 2,400 metres (8,000 feet). It presents as a collection of nonspecific symptoms, acquired at high altitude or in low air pressure, resembling a case of \\"flu, carbon monoxide poisoning, or a hangover\\". It is hard to determine who will be affected by altitude sickness, as there are no specific factors that correlate with a susceptibility to altitude sickness. However, most people can ascend to 2,400 metres (8,000 ft) without difficulty." []	EFO:1000782	"a pathological effect of high altitude on humans, caused by acute exposure to low partial pressure of oxygen at high altitude. It commonly occurs above 2,400 metres (8,000 feet). It presents as a collection of nonspecific symptoms, acquired at high altitude or in low air pressure, resembling a case of \\"flu, carbon monoxide poisoning, or a hangover\\". It is hard to determine who will be affected by altitude sickness, as there are no specific factors that correlate with a susceptibility to altitude sickness. However, most people can ascend to 2,400 metres (8,000 ft) without difficulty." []	70369	\N	\N	EFO	0	EFO	altitude sickness	altitude sickness
EFO:0000319	EFO:1000782	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000782	"a pathological effect of high altitude on humans, caused by acute exposure to low partial pressure of oxygen at high altitude. It commonly occurs above 2,400 metres (8,000 feet). It presents as a collection of nonspecific symptoms, acquired at high altitude or in low air pressure, resembling a case of \\"flu, carbon monoxide poisoning, or a hangover\\". It is hard to determine who will be affected by altitude sickness, as there are no specific factors that correlate with a susceptibility to altitude sickness. However, most people can ascend to 2,400 metres (8,000 ft) without difficulty." []	212837	\N	\N	EFO	1	EFO	cardiovascular disease	altitude sickness
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000782	"a pathological effect of high altitude on humans, caused by acute exposure to low partial pressure of oxygen at high altitude. It commonly occurs above 2,400 metres (8,000 feet). It presents as a collection of nonspecific symptoms, acquired at high altitude or in low air pressure, resembling a case of \\"flu, carbon monoxide poisoning, or a hangover\\". It is hard to determine who will be affected by altitude sickness, as there are no specific factors that correlate with a susceptibility to altitude sickness. However, most people can ascend to 2,400 metres (8,000 ft) without difficulty." []	566557	\N	\N	EFO	2	EFO	disease	altitude sickness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000782	"a pathological effect of high altitude on humans, caused by acute exposure to low partial pressure of oxygen at high altitude. It commonly occurs above 2,400 metres (8,000 feet). It presents as a collection of nonspecific symptoms, acquired at high altitude or in low air pressure, resembling a case of \\"flu, carbon monoxide poisoning, or a hangover\\". It is hard to determine who will be affected by altitude sickness, as there are no specific factors that correlate with a susceptibility to altitude sickness. However, most people can ascend to 2,400 metres (8,000 ft) without difficulty." []	1147962	\N	\N	EFO	3	EFO	disposition	altitude sickness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000782	"a pathological effect of high altitude on humans, caused by acute exposure to low partial pressure of oxygen at high altitude. It commonly occurs above 2,400 metres (8,000 feet). It presents as a collection of nonspecific symptoms, acquired at high altitude or in low air pressure, resembling a case of \\"flu, carbon monoxide poisoning, or a hangover\\". It is hard to determine who will be affected by altitude sickness, as there are no specific factors that correlate with a susceptibility to altitude sickness. However, most people can ascend to 2,400 metres (8,000 ft) without difficulty." []	2030248	\N	\N	EFO	4	EFO	material property	altitude sickness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000782	"a pathological effect of high altitude on humans, caused by acute exposure to low partial pressure of oxygen at high altitude. It commonly occurs above 2,400 metres (8,000 feet). It presents as a collection of nonspecific symptoms, acquired at high altitude or in low air pressure, resembling a case of \\"flu, carbon monoxide poisoning, or a hangover\\". It is hard to determine who will be affected by altitude sickness, as there are no specific factors that correlate with a susceptibility to altitude sickness. However, most people can ascend to 2,400 metres (8,000 ft) without difficulty." []	3180939	\N	\N	EFO	5	EFO	experimental factor	altitude sickness
EFO:1000783	\N	\N	"Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves ( VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)" []	EFO:1000783	"Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves ( VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)" []	70370	\N	\N	EFO	0	EFO	diabetic neuropathy	diabetic neuropathy
EFO:0003100	EFO:1000783	\N	"A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." []	EFO:1000783	"Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves ( VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)" []	212838	\N	\N	EFO	1	EFO	peripheral neuropathy	diabetic neuropathy
EFO:0004149	EFO:0003100	\N	"A nervous system disease that is located in the nervous system." []	EFO:1000783	"Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves ( VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)" []	566558	\N	\N	EFO	2	EFO	neuropathy	diabetic neuropathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000783	"Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves ( VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)" []	1147963	\N	\N	EFO	3	EFO	nervous system disease	diabetic neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000783	"Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves ( VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)" []	2030249	\N	\N	EFO	4	EFO	disease	diabetic neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000783	"Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves ( VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)" []	3180940	\N	\N	EFO	5	EFO	disposition	diabetic neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000783	"Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves ( VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)" []	4389488	\N	\N	EFO	6	EFO	material property	diabetic neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000783	"Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves ( VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)" []	5409316	\N	\N	EFO	7	EFO	experimental factor	diabetic neuropathy
EFO:1000784	\N	\N	"A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." []	EFO:1000784	"A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." []	70371	\N	\N	EFO	0	EFO	microscopic polyangiitis	microscopic polyangiitis
EFO:0006803	EFO:1000784	\N	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	EFO:1000784	"A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." []	212839	\N	\N	EFO	1	EFO	vasculitis	microscopic polyangiitis
EFO:0004264	EFO:0006803	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000784	"A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." []	566559	\N	\N	EFO	2	EFO	vascular disease	microscopic polyangiitis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000784	"A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." []	1147964	\N	\N	EFO	3	EFO	cardiovascular disease	microscopic polyangiitis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000784	"A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." []	2030250	\N	\N	EFO	4	EFO	disease	microscopic polyangiitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000784	"A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." []	3180941	\N	\N	EFO	5	EFO	disposition	microscopic polyangiitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000784	"A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." []	4389489	\N	\N	EFO	6	EFO	material property	microscopic polyangiitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000784	"A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." []	5409317	\N	\N	EFO	7	EFO	experimental factor	microscopic polyangiitis
EFO:1000785	\N	\N	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	70372	\N	\N	EFO	0	EFO	Sezary's disease	Sezary's disease
EFO:0002913	EFO:1000785	\N	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	212840	\N	\N	EFO	1	EFO	Cutaneous T-cell lymphoma	Sezary's disease
EFO:0004198	EFO:0002913	\N	"Tumors or cancer of the SKIN." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	566560	\N	\N	EFO	2	EFO	skin neoplasm	Sezary's disease
EFO:0005952	EFO:0002913	\N	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	566561	\N	\N	EFO	2	EFO	non-Hodgkins lymphoma	Sezary's disease
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	1147965	\N	\N	EFO	3	EFO	neoplasm	Sezary's disease
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	1147966	\N	\N	EFO	3	EFO	skin disease	Sezary's disease
EFO:0000574	EFO:0005952	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	1147967	\N	\N	EFO	3	EFO	lymphoma	Sezary's disease
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	5409319	\N	\N	EFO	7	EFO	disease	Sezary's disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	2030252	\N	\N	EFO	4	EFO	disease	Sezary's disease
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	2030253	\N	\N	EFO	4	EFO	lymphoid neoplasm	Sezary's disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	5817409	\N	\N	EFO	8	EFO	disposition	Sezary's disease
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	3180943	\N	\N	EFO	5	EFO	cancer	Sezary's disease
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	3180944	\N	\N	EFO	5	EFO	hematological system disease	Sezary's disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	6409769	\N	\N	EFO	9	EFO	material property	Sezary's disease
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	4389491	\N	\N	EFO	6	EFO	neoplasm	Sezary's disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	4389492	\N	\N	EFO	6	EFO	disease	Sezary's disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000785	"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." []	6807632	\N	\N	EFO	10	EFO	experimental factor	Sezary's disease
EFO:1000786	\N	\N	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	70373	\N	\N	EFO	0	EFO	osteoarthritis, hip	osteoarthritis, hip
EFO:0002506	EFO:1000786	\N	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	212841	\N	\N	EFO	1	EFO	osteoarthritis	osteoarthritis, hip
EFO:0005802	EFO:0002506	\N	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	566562	\N	\N	EFO	2	EFO	cartilage disease	osteoarthritis, hip
EFO:0005856	EFO:0002506	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	566563	\N	\N	EFO	2	EFO	arthritis	osteoarthritis, hip
EFO:0002461	EFO:0005802	\N	"Any disease which affects part of the skeletal system." []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	1147968	\N	\N	EFO	3	EFO	skeletal system disease	osteoarthritis, hip
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	1147969	\N	\N	EFO	3	EFO	autoimmune disease	osteoarthritis, hip
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	1147970	\N	\N	EFO	3	EFO	rheumatic disease	osteoarthritis, hip
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	3180947	\N	\N	EFO	5	EFO	disease	osteoarthritis, hip
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	2030255	\N	\N	EFO	4	EFO	immune system disease	osteoarthritis, hip
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	2030256	\N	\N	EFO	4	EFO	skeletal system disease	osteoarthritis, hip
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	4133053	\N	\N	EFO	6	EFO	disposition	osteoarthritis, hip
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	3180946	\N	\N	EFO	5	EFO	disease	osteoarthritis, hip
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	5181299	\N	\N	EFO	7	EFO	material property	osteoarthritis, hip
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000786	"Osteoarthritis of the hip is also very common and can affect either one or both hips.\\nYoure most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain).\\nIf you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up.\\n" []	5996735	\N	\N	EFO	8	EFO	experimental factor	osteoarthritis, hip
EFO:1000787	\N	\N	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	70374	\N	\N	EFO	0	EFO	osteoarthritis, spine	osteoarthritis, spine
EFO:0002506	EFO:1000787	\N	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	212842	\N	\N	EFO	1	EFO	osteoarthritis	osteoarthritis, spine
EFO:0005802	EFO:0002506	\N	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	566564	\N	\N	EFO	2	EFO	cartilage disease	osteoarthritis, spine
EFO:0005856	EFO:0002506	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	566565	\N	\N	EFO	2	EFO	arthritis	osteoarthritis, spine
EFO:0002461	EFO:0005802	\N	"Any disease which affects part of the skeletal system." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	1147971	\N	\N	EFO	3	EFO	skeletal system disease	osteoarthritis, spine
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	1147972	\N	\N	EFO	3	EFO	autoimmune disease	osteoarthritis, spine
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	1147973	\N	\N	EFO	3	EFO	rheumatic disease	osteoarthritis, spine
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	3180950	\N	\N	EFO	5	EFO	disease	osteoarthritis, spine
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	2030258	\N	\N	EFO	4	EFO	immune system disease	osteoarthritis, spine
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	2030259	\N	\N	EFO	4	EFO	skeletal system disease	osteoarthritis, spine
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	4133054	\N	\N	EFO	6	EFO	disposition	osteoarthritis, spine
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	3180949	\N	\N	EFO	5	EFO	disease	osteoarthritis, spine
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	5181300	\N	\N	EFO	7	EFO	material property	osteoarthritis, spine
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000787	"Changes that affect the bones of your spine and the discs between the bones are often called spondylosis, but theyre very similar to the changes caused by osteoarthritis in other joints. X-rays show that spondylosis is extremely common, but its not the most common cause of back pain or neck pain and often doesnt cause any problems at all." []	5996736	\N	\N	EFO	8	EFO	experimental factor	osteoarthritis, spine
EFO:1000788	\N	\N	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	70375	\N	\N	EFO	0	EFO	osteoarthritis, toe	osteoarthritis, toe
EFO:0002506	EFO:1000788	\N	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	212843	\N	\N	EFO	1	EFO	osteoarthritis	osteoarthritis, toe
EFO:0005802	EFO:0002506	\N	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	566566	\N	\N	EFO	2	EFO	cartilage disease	osteoarthritis, toe
EFO:0005856	EFO:0002506	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	566567	\N	\N	EFO	2	EFO	arthritis	osteoarthritis, toe
EFO:0002461	EFO:0005802	\N	"Any disease which affects part of the skeletal system." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	1147974	\N	\N	EFO	3	EFO	skeletal system disease	osteoarthritis, toe
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	1147975	\N	\N	EFO	3	EFO	autoimmune disease	osteoarthritis, toe
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	1147976	\N	\N	EFO	3	EFO	rheumatic disease	osteoarthritis, toe
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	3180953	\N	\N	EFO	5	EFO	disease	osteoarthritis, toe
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	2030261	\N	\N	EFO	4	EFO	immune system disease	osteoarthritis, toe
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	2030262	\N	\N	EFO	4	EFO	skeletal system disease	osteoarthritis, toe
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	4133055	\N	\N	EFO	6	EFO	disposition	osteoarthritis, toe
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	3180952	\N	\N	EFO	5	EFO	disease	osteoarthritis, toe
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	5181301	\N	\N	EFO	7	EFO	material property	osteoarthritis, toe
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000788	"Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to:\\n- become stiff over time, which can make it difficult and painful to walk  this is called hallux rigidus\\n- become bent, which can lead to painful bunions (bony lumps at the base of your big toe)  this is called hallux valgus.\\n\\nOsteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot.\\n\\nAnkle osteoarthritis is least common and may cause your heel to move to an unusual angle." []	5996737	\N	\N	EFO	8	EFO	experimental factor	osteoarthritis, toe
EFO:1000789	\N	\N	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	70376	\N	\N	EFO	0	EFO	osteoarthritis, hand	osteoarthritis, hand
EFO:0002506	EFO:1000789	\N	"A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	212844	\N	\N	EFO	1	EFO	osteoarthritis	osteoarthritis, hand
EFO:0005802	EFO:0002506	\N	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	566568	\N	\N	EFO	2	EFO	cartilage disease	osteoarthritis, hand
EFO:0005856	EFO:0002506	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	566569	\N	\N	EFO	2	EFO	arthritis	osteoarthritis, hand
EFO:0002461	EFO:0005802	\N	"Any disease which affects part of the skeletal system." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	1147977	\N	\N	EFO	3	EFO	skeletal system disease	osteoarthritis, hand
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	1147978	\N	\N	EFO	3	EFO	autoimmune disease	osteoarthritis, hand
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	1147979	\N	\N	EFO	3	EFO	rheumatic disease	osteoarthritis, hand
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	3180956	\N	\N	EFO	5	EFO	disease	osteoarthritis, hand
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	2030264	\N	\N	EFO	4	EFO	immune system disease	osteoarthritis, hand
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	2030265	\N	\N	EFO	4	EFO	skeletal system disease	osteoarthritis, hand
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	4133056	\N	\N	EFO	6	EFO	disposition	osteoarthritis, hand
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	3180955	\N	\N	EFO	5	EFO	disease	osteoarthritis, hand
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	5181302	\N	\N	EFO	7	EFO	material property	osteoarthritis, hand
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000789	"Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and its no longer possible to have children)." []	5996738	\N	\N	EFO	8	EFO	experimental factor	osteoarthritis, hand
EFO:1000790	\N	\N	"Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." []	EFO:1000790	"Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." []	70377	\N	\N	EFO	0	EFO	acalculous cholecystitis	acalculous cholecystitis
EFO:1000025	EFO:1000790	\N	"An acute or chronic inflammatory process affecting the bladder." []	EFO:1000790	"Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." []	212845	\N	\N	EFO	1	EFO	cystitis	acalculous cholecystitis
EFO:1000018	EFO:1000025	\N	"A disorder affecting the urinary bladder" []	EFO:1000790	"Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." []	566570	\N	\N	EFO	2	EFO	bladder disease	acalculous cholecystitis
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000790	"Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." []	1147980	\N	\N	EFO	3	EFO	disease	acalculous cholecystitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000790	"Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." []	2030266	\N	\N	EFO	4	EFO	disposition	acalculous cholecystitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000790	"Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." []	3180957	\N	\N	EFO	5	EFO	material property	acalculous cholecystitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000790	"Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." []	4389497	\N	\N	EFO	6	EFO	experimental factor	acalculous cholecystitis
EFO:1000791	\N	\N	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	70378	\N	\N	EFO	0	EFO	acidophil adenoma	acidophil adenoma
EFO:1000478	EFO:1000791	\N	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	212846	\N	\N	EFO	1	EFO	Pituitary Gland Adenoma	acidophil adenoma
EFO:0000232	EFO:1000478	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	566571	\N	\N	EFO	2	EFO	adenoma	acidophil adenoma
EFO:0003769	EFO:1000478	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	566572	\N	\N	EFO	2	EFO	endocrine neoplasm	acidophil adenoma
EFO:0003833	EFO:1000478	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	566573	\N	\N	EFO	2	EFO	brain neoplasm	acidophil adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	1147981	\N	\N	EFO	3	EFO	benign neoplasm	acidophil adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	1147982	\N	\N	EFO	3	EFO	neoplasm	acidophil adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	1147983	\N	\N	EFO	3	EFO	endocrine system disease	acidophil adenoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	1147984	\N	\N	EFO	3	EFO	neoplasm	acidophil adenoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	1147985	\N	\N	EFO	3	EFO	brain disease	acidophil adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	2030267	\N	\N	EFO	4	EFO	neoplasm	acidophil adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	3180958	\N	\N	EFO	5	EFO	disease	acidophil adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	2030269	\N	\N	EFO	4	EFO	disease	acidophil adenoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	2030270	\N	\N	EFO	4	EFO	nervous system disease	acidophil adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	4133057	\N	\N	EFO	6	EFO	disposition	acidophil adenoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	3180960	\N	\N	EFO	5	EFO	disease	acidophil adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	5181303	\N	\N	EFO	7	EFO	material property	acidophil adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000791	"A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" []	5996739	\N	\N	EFO	8	EFO	experimental factor	acidophil adenoma
EFO:1000792	\N	\N	"Infections with bacteria of the genus ACINETOBACTER." []	EFO:1000792	"Infections with bacteria of the genus ACINETOBACTER." []	70379	\N	\N	EFO	0	EFO	Acinetobacter infectious disease	Acinetobacter infectious disease
EFO:0000771	EFO:1000792	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000792	"Infections with bacteria of the genus ACINETOBACTER." []	212847	\N	\N	EFO	1	EFO	bacterial disease	Acinetobacter infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000792	"Infections with bacteria of the genus ACINETOBACTER." []	566574	\N	\N	EFO	2	EFO	infectious disease	Acinetobacter infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000792	"Infections with bacteria of the genus ACINETOBACTER." []	1147986	\N	\N	EFO	3	EFO	disease	Acinetobacter infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000792	"Infections with bacteria of the genus ACINETOBACTER." []	2030271	\N	\N	EFO	4	EFO	disposition	Acinetobacter infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000792	"Infections with bacteria of the genus ACINETOBACTER." []	3180961	\N	\N	EFO	5	EFO	material property	Acinetobacter infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000792	"Infections with bacteria of the genus ACINETOBACTER." []	4389499	\N	\N	EFO	6	EFO	experimental factor	Acinetobacter infectious disease
EFO:1000793	\N	\N	"Infections with bacteria of the genus ACTINOBACILLUS." []	EFO:1000793	"Infections with bacteria of the genus ACTINOBACILLUS." []	70380	\N	\N	EFO	0	EFO	Actinobacillus infectious disease	Actinobacillus infectious disease
EFO:0000771	EFO:1000793	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000793	"Infections with bacteria of the genus ACTINOBACILLUS." []	212848	\N	\N	EFO	1	EFO	bacterial disease	Actinobacillus infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000793	"Infections with bacteria of the genus ACTINOBACILLUS." []	566575	\N	\N	EFO	2	EFO	infectious disease	Actinobacillus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000793	"Infections with bacteria of the genus ACTINOBACILLUS." []	1147987	\N	\N	EFO	3	EFO	disease	Actinobacillus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000793	"Infections with bacteria of the genus ACTINOBACILLUS." []	2030272	\N	\N	EFO	4	EFO	disposition	Actinobacillus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000793	"Infections with bacteria of the genus ACTINOBACILLUS." []	3180962	\N	\N	EFO	5	EFO	material property	Actinobacillus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000793	"Infections with bacteria of the genus ACTINOBACILLUS." []	4389500	\N	\N	EFO	6	EFO	experimental factor	Actinobacillus infectious disease
EFO:1000794	\N	\N	"Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA." []	EFO:1000794	"Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA." []	70381	\N	\N	EFO	0	EFO	acute kidney tubular necrosis	acute kidney tubular necrosis
EFO:0003086	EFO:1000794	\N	"A disease affecting the kidneys" []	EFO:1000794	"Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA." []	212849	\N	\N	EFO	1	EFO	kidney disease	acute kidney tubular necrosis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000794	"Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA." []	566576	\N	\N	EFO	2	EFO	disease	acute kidney tubular necrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000794	"Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA." []	1147988	\N	\N	EFO	3	EFO	disposition	acute kidney tubular necrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000794	"Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA." []	2030273	\N	\N	EFO	4	EFO	material property	acute kidney tubular necrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000794	"Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA." []	3180963	\N	\N	EFO	5	EFO	experimental factor	acute kidney tubular necrosis
EFO:1000795	\N	\N	"Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." []	EFO:1000795	"Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." []	70382	\N	\N	EFO	0	EFO	acute retinal necrosis syndrome	acute retinal necrosis syndrome
EFO:0003966	EFO:1000795	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000795	"Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." []	212850	\N	\N	EFO	1	EFO	eye disease	acute retinal necrosis syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000795	"Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." []	566577	\N	\N	EFO	2	EFO	disease	acute retinal necrosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000795	"Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." []	1147989	\N	\N	EFO	3	EFO	disposition	acute retinal necrosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000795	"Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." []	2030274	\N	\N	EFO	4	EFO	material property	acute retinal necrosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000795	"Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." []	3180964	\N	\N	EFO	5	EFO	experimental factor	acute retinal necrosis syndrome
EFO:1000796	\N	\N	"Tumors or cancers of the ADRENAL CORTEX." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	70383	\N	\N	EFO	0	EFO	adrenal cortex carcinoma	adrenal cortex carcinoma
EFO:0000313	EFO:1000796	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	212851	\N	\N	EFO	1	EFO	carcinoma	adrenal cortex carcinoma
EFO:0003769	EFO:1000796	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	212852	\N	\N	EFO	1	EFO	endocrine neoplasm	adrenal cortex carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	566578	\N	\N	EFO	2	EFO	cancer	adrenal cortex carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	566579	\N	\N	EFO	2	EFO	epithelial neoplasm	adrenal cortex carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	566580	\N	\N	EFO	2	EFO	neoplasm	adrenal cortex carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	566581	\N	\N	EFO	2	EFO	endocrine system disease	adrenal cortex carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	1147990	\N	\N	EFO	3	EFO	neoplasm	adrenal cortex carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	1147991	\N	\N	EFO	3	EFO	neoplasm	adrenal cortex carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	2030275	\N	\N	EFO	4	EFO	disease	adrenal cortex carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	1147993	\N	\N	EFO	3	EFO	disease	adrenal cortex carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	3000054	\N	\N	EFO	5	EFO	disposition	adrenal cortex carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	4133058	\N	\N	EFO	6	EFO	material property	adrenal cortex carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000796	"Tumors or cancers of the ADRENAL CORTEX." []	5181304	\N	\N	EFO	7	EFO	experimental factor	adrenal cortex carcinoma
EFO:1000797	\N	\N	"Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM." []	EFO:1000797	"Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM." []	70384	\N	\N	EFO	0	EFO	adrenal gland hyperfunction	adrenal gland hyperfunction
EFO:0001379	EFO:1000797	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000797	"Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM." []	212853	\N	\N	EFO	1	EFO	endocrine system disease	adrenal gland hyperfunction
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000797	"Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM." []	566582	\N	\N	EFO	2	EFO	disease	adrenal gland hyperfunction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000797	"Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM." []	1147994	\N	\N	EFO	3	EFO	disposition	adrenal gland hyperfunction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000797	"Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM." []	2030277	\N	\N	EFO	4	EFO	material property	adrenal gland hyperfunction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000797	"Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM." []	3180966	\N	\N	EFO	5	EFO	experimental factor	adrenal gland hyperfunction
EFO:1000798	\N	\N	"Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." []	EFO:1000798	"Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." []	70385	\N	\N	EFO	0	EFO	adrenal rest tumor	adrenal rest tumor
EFO:0003769	EFO:1000798	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000798	"Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." []	212854	\N	\N	EFO	1	EFO	endocrine neoplasm	adrenal rest tumor
EFO:0003850	EFO:1000798	\N	"Tumors or cancer of the ADRENAL GLANDS." []	EFO:1000798	"Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." []	212855	\N	\N	EFO	1	EFO	adrenal gland neoplasm	adrenal rest tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000798	"Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." []	566583	\N	\N	EFO	2	EFO	neoplasm	adrenal rest tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000798	"Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." []	566584	\N	\N	EFO	2	EFO	endocrine system disease	adrenal rest tumor
EFO:0000616	EFO:0003850	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000798	"Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." []	566585	\N	\N	EFO	2	EFO	neoplasm	adrenal rest tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000798	"Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." []	1147995	\N	\N	EFO	3	EFO	disease	adrenal rest tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000798	"Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." []	1147996	\N	\N	EFO	3	EFO	disease	adrenal rest tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000798	"Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." []	2030278	\N	\N	EFO	4	EFO	disposition	adrenal rest tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000798	"Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." []	3180967	\N	\N	EFO	5	EFO	material property	adrenal rest tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000798	"Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." []	4389502	\N	\N	EFO	6	EFO	experimental factor	adrenal rest tumor
EFO:1000799	\N	\N	"A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid." []	EFO:1000799	"A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid." []	70386	\N	\N	EFO	0	EFO	afferent loop syndrome	afferent loop syndrome
EFO:0000405	EFO:1000799	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000799	"A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid." []	212856	\N	\N	EFO	1	EFO	digestive system disease	afferent loop syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000799	"A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid." []	566586	\N	\N	EFO	2	EFO	disease	afferent loop syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000799	"A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid." []	1147997	\N	\N	EFO	3	EFO	disposition	afferent loop syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000799	"A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid." []	2030279	\N	\N	EFO	4	EFO	material property	afferent loop syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000799	"A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid." []	3180968	\N	\N	EFO	5	EFO	experimental factor	afferent loop syndrome
EFO:1000800	\N	\N	"An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" []	EFO:1000800	"An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" []	70387	\N	\N	EFO	0	EFO	alcohol withdrawal delirium	alcohol withdrawal delirium
EFO:0000677	EFO:1000800	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1000800	"An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" []	212857	\N	\N	EFO	1	EFO	mental or behavioural disorder	alcohol withdrawal delirium
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1000800	"An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" []	566587	\N	\N	EFO	2	EFO	brain disease	alcohol withdrawal delirium
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000800	"An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" []	1147998	\N	\N	EFO	3	EFO	nervous system disease	alcohol withdrawal delirium
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000800	"An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" []	2030280	\N	\N	EFO	4	EFO	disease	alcohol withdrawal delirium
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000800	"An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" []	3180969	\N	\N	EFO	5	EFO	disposition	alcohol withdrawal delirium
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000800	"An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" []	4389503	\N	\N	EFO	6	EFO	material property	alcohol withdrawal delirium
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000800	"An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" []	5409326	\N	\N	EFO	7	EFO	experimental factor	alcohol withdrawal delirium
EFO:1000801	\N	\N	"Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." []	EFO:1000801	"Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." []	70388	\N	\N	EFO	0	EFO	alcoholic cardiomyopathy	alcoholic cardiomyopathy
EFO:0000318	EFO:1000801	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:1000801	"Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." []	212858	\N	\N	EFO	1	EFO	cardiomyopathy	alcoholic cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000801	"Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." []	566588	\N	\N	EFO	2	EFO	heart disease	alcoholic cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000801	"Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." []	1147999	\N	\N	EFO	3	EFO	cardiovascular disease	alcoholic cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000801	"Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." []	2030281	\N	\N	EFO	4	EFO	disease	alcoholic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000801	"Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." []	3180970	\N	\N	EFO	5	EFO	disposition	alcoholic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000801	"Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." []	4389504	\N	\N	EFO	6	EFO	material property	alcoholic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000801	"Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." []	5409327	\N	\N	EFO	7	EFO	experimental factor	alcoholic cardiomyopathy
EFO:1000802	\N	\N	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	70389	\N	\N	EFO	0	EFO	alcoholic liver cirrhosis	alcoholic liver cirrhosis
EFO:0001422	EFO:1000802	\N	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	212859	\N	\N	EFO	1	EFO	cirrhosis of liver	alcoholic liver cirrhosis
EFO:0006890	EFO:0001422	\N	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	566589	\N	\N	EFO	2	EFO	fibrosis	alcoholic liver cirrhosis
EFO:1001513	EFO:0001422	\N	"Tumors or cancers of the LIVER." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	566590	\N	\N	EFO	2	EFO	liver neoplasm	alcoholic liver cirrhosis
EFO:0000616	EFO:0006890	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	1148000	\N	\N	EFO	3	EFO	neoplasm	alcoholic liver cirrhosis
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	1148001	\N	\N	EFO	3	EFO	liver disease	alcoholic liver cirrhosis
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	1148002	\N	\N	EFO	3	EFO	endocrine neoplasm	alcoholic liver cirrhosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	3180974	\N	\N	EFO	5	EFO	disease	alcoholic liver cirrhosis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	2030283	\N	\N	EFO	4	EFO	digestive system disease	alcoholic liver cirrhosis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	2030284	\N	\N	EFO	4	EFO	endocrine system disease	alcoholic liver cirrhosis
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	2030285	\N	\N	EFO	4	EFO	neoplasm	alcoholic liver cirrhosis
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	2030286	\N	\N	EFO	4	EFO	endocrine system disease	alcoholic liver cirrhosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	4133059	\N	\N	EFO	6	EFO	disposition	alcoholic liver cirrhosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	3180972	\N	\N	EFO	5	EFO	disease	alcoholic liver cirrhosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	3180973	\N	\N	EFO	5	EFO	disease	alcoholic liver cirrhosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	5181305	\N	\N	EFO	7	EFO	material property	alcoholic liver cirrhosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000802	"FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." []	5996740	\N	\N	EFO	8	EFO	experimental factor	alcoholic liver cirrhosis
EFO:1000803	\N	\N	"A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)" []	EFO:1000803	"A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)" []	70390	\N	\N	EFO	0	EFO	alcoholic neuropathy	alcoholic neuropathy
EFO:0004149	EFO:1000803	\N	"A nervous system disease that is located in the nervous system." []	EFO:1000803	"A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)" []	212860	\N	\N	EFO	1	EFO	neuropathy	alcoholic neuropathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000803	"A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)" []	566591	\N	\N	EFO	2	EFO	nervous system disease	alcoholic neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000803	"A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)" []	1148003	\N	\N	EFO	3	EFO	disease	alcoholic neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000803	"A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)" []	2030287	\N	\N	EFO	4	EFO	disposition	alcoholic neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000803	"A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)" []	3180975	\N	\N	EFO	5	EFO	material property	alcoholic neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000803	"A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)" []	4389506	\N	\N	EFO	6	EFO	experimental factor	alcoholic neuropathy
EFO:1000804	\N	\N	"Tumors or cancer of the anal gland." []	EFO:1000804	"Tumors or cancer of the anal gland." []	70391	\N	\N	EFO	0	EFO	anal gland neoplasm	anal gland neoplasm
EFO:0003835	EFO:1000804	\N	"Tumors or cancer of the ANAL CANAL." []	EFO:1000804	"Tumors or cancer of the anal gland." []	212861	\N	\N	EFO	1	EFO	anal neoplasm	anal gland neoplasm
EFO:0000616	EFO:0003835	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000804	"Tumors or cancer of the anal gland." []	566592	\N	\N	EFO	2	EFO	neoplasm	anal gland neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000804	"Tumors or cancer of the anal gland." []	1148004	\N	\N	EFO	3	EFO	disease	anal gland neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000804	"Tumors or cancer of the anal gland." []	2030288	\N	\N	EFO	4	EFO	disposition	anal gland neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000804	"Tumors or cancer of the anal gland." []	3180976	\N	\N	EFO	5	EFO	material property	anal gland neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000804	"Tumors or cancer of the anal gland." []	4389507	\N	\N	EFO	6	EFO	experimental factor	anal gland neoplasm
EFO:1000805	\N	\N	"Small breaks in the elastin-filled tissue of the retina." []	EFO:1000805	"Small breaks in the elastin-filled tissue of the retina." []	70392	\N	\N	EFO	0	EFO	angioid streaks	angioid streaks
EFO:0003966	EFO:1000805	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000805	"Small breaks in the elastin-filled tissue of the retina." []	212862	\N	\N	EFO	1	EFO	eye disease	angioid streaks
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000805	"Small breaks in the elastin-filled tissue of the retina." []	566593	\N	\N	EFO	2	EFO	disease	angioid streaks
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000805	"Small breaks in the elastin-filled tissue of the retina." []	1148005	\N	\N	EFO	3	EFO	disposition	angioid streaks
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000805	"Small breaks in the elastin-filled tissue of the retina." []	2030289	\N	\N	EFO	4	EFO	material property	angioid streaks
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000805	"Small breaks in the elastin-filled tissue of the retina." []	3180977	\N	\N	EFO	5	EFO	experimental factor	angioid streaks
EFO:1000806	\N	\N	"A benign tumor consisting of vascular and smooth muscle elements." []	EFO:1000806	"A benign tumor consisting of vascular and smooth muscle elements." []	70393	\N	\N	EFO	0	EFO	angiomyoma	angiomyoma
EFO:0000616	EFO:1000806	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000806	"A benign tumor consisting of vascular and smooth muscle elements." []	212863	\N	\N	EFO	1	EFO	neoplasm	angiomyoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000806	"A benign tumor consisting of vascular and smooth muscle elements." []	566594	\N	\N	EFO	2	EFO	disease	angiomyoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000806	"A benign tumor consisting of vascular and smooth muscle elements." []	1148006	\N	\N	EFO	3	EFO	disposition	angiomyoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000806	"A benign tumor consisting of vascular and smooth muscle elements." []	2030290	\N	\N	EFO	4	EFO	material property	angiomyoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000806	"A benign tumor consisting of vascular and smooth muscle elements." []	3180978	\N	\N	EFO	5	EFO	experimental factor	angiomyoma
EFO:1000807	\N	\N	"NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." []	EFO:1000807	"NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." []	70394	\N	\N	EFO	0	EFO	anterior cerebral artery infarction	anterior cerebral artery infarction
EFO:0003763	EFO:1000807	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1000807	"NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." []	212864	\N	\N	EFO	1	EFO	cerebrovascular disorder	anterior cerebral artery infarction
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000807	"NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." []	566595	\N	\N	EFO	2	EFO	vascular disease	anterior cerebral artery infarction
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000807	"NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." []	1148007	\N	\N	EFO	3	EFO	cardiovascular disease	anterior cerebral artery infarction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000807	"NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." []	2030291	\N	\N	EFO	4	EFO	disease	anterior cerebral artery infarction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000807	"NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." []	3180979	\N	\N	EFO	5	EFO	disposition	anterior cerebral artery infarction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000807	"NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." []	4389508	\N	\N	EFO	6	EFO	material property	anterior cerebral artery infarction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000807	"NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." []	5409329	\N	\N	EFO	7	EFO	experimental factor	anterior cerebral artery infarction
EFO:1000808	\N	\N	"Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION." []	EFO:1000808	"Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION." []	70395	\N	\N	EFO	0	EFO	anterior compartment syndrome	anterior compartment syndrome
EFO:0002970	EFO:1000808	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1000808	"Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION." []	212865	\N	\N	EFO	1	EFO	muscular disease	anterior compartment syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1000808	"Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION." []	566596	\N	\N	EFO	2	EFO	skeletal system disease	anterior compartment syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000808	"Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION." []	1148008	\N	\N	EFO	3	EFO	disease	anterior compartment syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000808	"Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION." []	2030292	\N	\N	EFO	4	EFO	disposition	anterior compartment syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000808	"Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION." []	3180980	\N	\N	EFO	5	EFO	material property	anterior compartment syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000808	"Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION." []	4389509	\N	\N	EFO	6	EFO	experimental factor	anterior compartment syndrome
EFO:1000809	\N	\N	"Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" []	EFO:1000809	"Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" []	70396	\N	\N	EFO	0	EFO	anterior ischemic optic neuropathy	anterior ischemic optic neuropathy
EFO:0004149	EFO:1000809	\N	"A nervous system disease that is located in the nervous system." []	EFO:1000809	"Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" []	212866	\N	\N	EFO	1	EFO	neuropathy	anterior ischemic optic neuropathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000809	"Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" []	566597	\N	\N	EFO	2	EFO	nervous system disease	anterior ischemic optic neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000809	"Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" []	1148009	\N	\N	EFO	3	EFO	disease	anterior ischemic optic neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000809	"Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" []	2030293	\N	\N	EFO	4	EFO	disposition	anterior ischemic optic neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000809	"Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" []	3180981	\N	\N	EFO	5	EFO	material property	anterior ischemic optic neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000809	"Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" []	4389510	\N	\N	EFO	6	EFO	experimental factor	anterior ischemic optic neuropathy
EFO:1000810	\N	\N	"Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" []	EFO:1000810	"Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" []	70397	\N	\N	EFO	0	EFO	anterior spinal artery syndrome	anterior spinal artery syndrome
EFO:0003763	EFO:1000810	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1000810	"Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" []	212867	\N	\N	EFO	1	EFO	cerebrovascular disorder	anterior spinal artery syndrome
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000810	"Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" []	566598	\N	\N	EFO	2	EFO	vascular disease	anterior spinal artery syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000810	"Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" []	1148010	\N	\N	EFO	3	EFO	cardiovascular disease	anterior spinal artery syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000810	"Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" []	2030294	\N	\N	EFO	4	EFO	disease	anterior spinal artery syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000810	"Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" []	3180982	\N	\N	EFO	5	EFO	disposition	anterior spinal artery syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000810	"Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" []	4389511	\N	\N	EFO	6	EFO	material property	anterior spinal artery syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000810	"Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" []	5409330	\N	\N	EFO	7	EFO	experimental factor	anterior spinal artery syndrome
EFO:1000811	\N	\N	"Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced." []	EFO:1000811	"Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced." []	70398	\N	\N	EFO	0	EFO	anterior uveitis	anterior uveitis
EFO:0003966	EFO:1000811	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000811	"Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced." []	212868	\N	\N	EFO	1	EFO	eye disease	anterior uveitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000811	"Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced." []	566599	\N	\N	EFO	2	EFO	disease	anterior uveitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000811	"Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced." []	1148011	\N	\N	EFO	3	EFO	disposition	anterior uveitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000811	"Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced." []	2030295	\N	\N	EFO	4	EFO	material property	anterior uveitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000811	"Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced." []	3180983	\N	\N	EFO	5	EFO	experimental factor	anterior uveitis
EFO:1000812	\N	\N	"MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." []	EFO:1000812	"MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." []	70399	\N	\N	EFO	0	EFO	anterolateral myocardial infarction	anterolateral myocardial infarction
EFO:0000612	EFO:1000812	\N	"NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)." []	EFO:1000812	"MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." []	212869	\N	\N	EFO	1	EFO	myocardial infarction	anterolateral myocardial infarction
EFO:0003777	EFO:0000612	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000812	"MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." []	566600	\N	\N	EFO	2	EFO	heart disease	anterolateral myocardial infarction
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000812	"MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." []	1148012	\N	\N	EFO	3	EFO	cardiovascular disease	anterolateral myocardial infarction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000812	"MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." []	2030296	\N	\N	EFO	4	EFO	disease	anterolateral myocardial infarction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000812	"MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." []	3180984	\N	\N	EFO	5	EFO	disposition	anterolateral myocardial infarction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000812	"MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." []	4389512	\N	\N	EFO	6	EFO	material property	anterolateral myocardial infarction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000812	"MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." []	5409331	\N	\N	EFO	7	EFO	experimental factor	anterolateral myocardial infarction
EFO:1000813	\N	\N	"A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." []	EFO:1000813	"A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." []	70400	\N	\N	EFO	0	EFO	anthracosilicosis	anthracosilicosis
Orphanet:182098	EFO:1000813	\N	"" []	EFO:1000813	"A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." []	212870	\N	\N	EFO	1	EFO	pneumoconiosis	anthracosilicosis
EFO:0000771	Orphanet:182098	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000813	"A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." []	566601	\N	\N	EFO	2	EFO	bacterial disease	anthracosilicosis
EFO:0003818	Orphanet:182098	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000813	"A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." []	566602	\N	\N	EFO	2	EFO	lung disease	anthracosilicosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000813	"A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." []	1148013	\N	\N	EFO	3	EFO	infectious disease	anthracosilicosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000813	"A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." []	1148014	\N	\N	EFO	3	EFO	respiratory system disease	anthracosilicosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000813	"A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." []	2030297	\N	\N	EFO	4	EFO	disease	anthracosilicosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000813	"A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." []	2030298	\N	\N	EFO	4	EFO	disease	anthracosilicosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000813	"A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." []	3180985	\N	\N	EFO	5	EFO	disposition	anthracosilicosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000813	"A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." []	4389513	\N	\N	EFO	6	EFO	material property	anthracosilicosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000813	"A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung." []	5409332	\N	\N	EFO	7	EFO	experimental factor	anthracosilicosis
EFO:1000814	\N	\N	"A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." []	EFO:1000814	"A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." []	70401	\N	\N	EFO	0	EFO	anthracosis	anthracosis
Orphanet:182098	EFO:1000814	\N	"" []	EFO:1000814	"A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." []	212871	\N	\N	EFO	1	EFO	pneumoconiosis	anthracosis
EFO:0000771	Orphanet:182098	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000814	"A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." []	566603	\N	\N	EFO	2	EFO	bacterial disease	anthracosis
EFO:0003818	Orphanet:182098	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000814	"A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." []	566604	\N	\N	EFO	2	EFO	lung disease	anthracosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000814	"A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." []	1148015	\N	\N	EFO	3	EFO	infectious disease	anthracosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000814	"A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." []	1148016	\N	\N	EFO	3	EFO	respiratory system disease	anthracosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000814	"A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." []	2030299	\N	\N	EFO	4	EFO	disease	anthracosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000814	"A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." []	2030300	\N	\N	EFO	4	EFO	disease	anthracosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000814	"A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." []	3180986	\N	\N	EFO	5	EFO	disposition	anthracosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000814	"A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." []	4389514	\N	\N	EFO	6	EFO	material property	anthracosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000814	"A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers." []	5409333	\N	\N	EFO	7	EFO	experimental factor	anthracosis
EFO:1000815	\N	\N	"The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." []	EFO:1000815	"The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." []	70402	\N	\N	EFO	0	EFO	aortic valve prolapse	aortic valve prolapse
EFO:0003777	EFO:1000815	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000815	"The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." []	212872	\N	\N	EFO	1	EFO	heart disease	aortic valve prolapse
EFO:0005775	EFO:1000815	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:1000815	"The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." []	212873	\N	\N	EFO	1	EFO	aortic disease	aortic valve prolapse
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000815	"The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." []	566605	\N	\N	EFO	2	EFO	cardiovascular disease	aortic valve prolapse
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000815	"The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." []	566606	\N	\N	EFO	2	EFO	vascular disease	aortic valve prolapse
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000815	"The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." []	2030302	\N	\N	EFO	4	EFO	disease	aortic valve prolapse
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000815	"The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." []	1148018	\N	\N	EFO	3	EFO	cardiovascular disease	aortic valve prolapse
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000815	"The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." []	3000055	\N	\N	EFO	5	EFO	disposition	aortic valve prolapse
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000815	"The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." []	4133060	\N	\N	EFO	6	EFO	material property	aortic valve prolapse
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000815	"The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." []	5181306	\N	\N	EFO	7	EFO	experimental factor	aortic valve prolapse
EFO:1000816	\N	\N	"Inflammation of the wall of the AORTA." []	EFO:1000816	"Inflammation of the wall of the AORTA." []	70403	\N	\N	EFO	0	EFO	aortitis	aortitis
EFO:0005775	EFO:1000816	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:1000816	"Inflammation of the wall of the AORTA." []	212874	\N	\N	EFO	1	EFO	aortic disease	aortitis
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000816	"Inflammation of the wall of the AORTA." []	566607	\N	\N	EFO	2	EFO	vascular disease	aortitis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000816	"Inflammation of the wall of the AORTA." []	1148019	\N	\N	EFO	3	EFO	cardiovascular disease	aortitis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000816	"Inflammation of the wall of the AORTA." []	2030303	\N	\N	EFO	4	EFO	disease	aortitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000816	"Inflammation of the wall of the AORTA." []	3180988	\N	\N	EFO	5	EFO	disposition	aortitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000816	"Inflammation of the wall of the AORTA." []	4389516	\N	\N	EFO	6	EFO	material property	aortitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000816	"Inflammation of the wall of the AORTA." []	5409334	\N	\N	EFO	7	EFO	experimental factor	aortitis
EFO:1000817	\N	\N	"A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS." []	EFO:1000817	"A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS." []	70404	\N	\N	EFO	0	EFO	apparent mineralocorticoid excess syndrome	apparent mineralocorticoid excess syndrome
EFO:0000508	EFO:1000817	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000817	"A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS." []	212875	\N	\N	EFO	1	EFO	genetic disorder	apparent mineralocorticoid excess syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000817	"A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS." []	566608	\N	\N	EFO	2	EFO	disease	apparent mineralocorticoid excess syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000817	"A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS." []	1148020	\N	\N	EFO	3	EFO	disposition	apparent mineralocorticoid excess syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000817	"A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS." []	2030304	\N	\N	EFO	4	EFO	material property	apparent mineralocorticoid excess syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000817	"A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS." []	3180989	\N	\N	EFO	5	EFO	experimental factor	apparent mineralocorticoid excess syndrome
EFO:1000818	\N	\N	"A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." []	EFO:1000818	"A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." []	70405	\N	\N	EFO	0	EFO	arcus senilis	arcus senilis
EFO:0000524	EFO:1000818	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000818	"A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." []	212876	\N	\N	EFO	1	EFO	head disease	arcus senilis
EFO:0003966	EFO:1000818	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000818	"A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." []	212877	\N	\N	EFO	1	EFO	eye disease	arcus senilis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000818	"A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." []	566609	\N	\N	EFO	2	EFO	disease	arcus senilis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000818	"A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." []	566610	\N	\N	EFO	2	EFO	disease	arcus senilis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000818	"A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." []	1148021	\N	\N	EFO	3	EFO	disposition	arcus senilis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000818	"A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." []	2030305	\N	\N	EFO	4	EFO	material property	arcus senilis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000818	"A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." []	3180990	\N	\N	EFO	5	EFO	experimental factor	arcus senilis
EFO:1000819	\N	\N	"Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition." []	EFO:1000819	"Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition." []	70406	\N	\N	EFO	0	EFO	arteriolosclerosis	arteriolosclerosis
EFO:0000378	EFO:1000819	\N	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	EFO:1000819	"Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition." []	212878	\N	\N	EFO	1	EFO	coronary artery disease	arteriolosclerosis
EFO:0001645	EFO:0000378	\N	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	EFO:1000819	"Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition." []	566611	\N	\N	EFO	2	EFO	coronary heart disease	arteriolosclerosis
EFO:0003777	EFO:0001645	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000819	"Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition." []	1148022	\N	\N	EFO	3	EFO	heart disease	arteriolosclerosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000819	"Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition." []	2030306	\N	\N	EFO	4	EFO	cardiovascular disease	arteriolosclerosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000819	"Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition." []	3180991	\N	\N	EFO	5	EFO	disease	arteriolosclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000819	"Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition." []	4389517	\N	\N	EFO	6	EFO	disposition	arteriolosclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000819	"Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition." []	5409335	\N	\N	EFO	7	EFO	material property	arteriolosclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000819	"Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition." []	6147624	\N	\N	EFO	8	EFO	experimental factor	arteriolosclerosis
EFO:1000820	\N	\N	"Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." []	EFO:1000820	"Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." []	70407	\N	\N	EFO	0	EFO	arteriosclerosis obliterans	arteriosclerosis obliterans
EFO:0000378	EFO:1000820	\N	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	EFO:1000820	"Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." []	212879	\N	\N	EFO	1	EFO	coronary artery disease	arteriosclerosis obliterans
EFO:0001645	EFO:0000378	\N	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	EFO:1000820	"Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." []	566612	\N	\N	EFO	2	EFO	coronary heart disease	arteriosclerosis obliterans
EFO:0003777	EFO:0001645	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000820	"Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." []	1148023	\N	\N	EFO	3	EFO	heart disease	arteriosclerosis obliterans
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000820	"Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." []	2030307	\N	\N	EFO	4	EFO	cardiovascular disease	arteriosclerosis obliterans
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000820	"Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." []	3180992	\N	\N	EFO	5	EFO	disease	arteriosclerosis obliterans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000820	"Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." []	4389518	\N	\N	EFO	6	EFO	disposition	arteriosclerosis obliterans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000820	"Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." []	5409336	\N	\N	EFO	7	EFO	material property	arteriosclerosis obliterans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000820	"Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." []	6147625	\N	\N	EFO	8	EFO	experimental factor	arteriosclerosis obliterans
EFO:1000821	\N	\N	"A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis." []	EFO:1000821	"A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis." []	70408	\N	\N	EFO	0	EFO	arthus reaction	arthus reaction
EFO:1001222	EFO:1000821	\N	"Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA." []	EFO:1000821	"A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis." []	212880	\N	\N	EFO	1	EFO	type III hypersensitivity reaction disease	arthus reaction
EFO:1002003	EFO:1001222	\N	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	EFO:1000821	"A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis." []	566613	\N	\N	EFO	2	EFO	hypersensitivity reaction disease	arthus reaction
EFO:0000540	EFO:1002003	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000821	"A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis." []	1148024	\N	\N	EFO	3	EFO	immune system disease	arthus reaction
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000821	"A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis." []	2030308	\N	\N	EFO	4	EFO	disease	arthus reaction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000821	"A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis." []	3180993	\N	\N	EFO	5	EFO	disposition	arthus reaction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000821	"A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis." []	4389519	\N	\N	EFO	6	EFO	material property	arthus reaction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000821	"A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis." []	5409337	\N	\N	EFO	7	EFO	experimental factor	arthus reaction
EFO:1000822	\N	\N	"A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" []	EFO:1000822	"A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" []	70409	\N	\N	EFO	0	EFO	ascorbic acid deficiency	ascorbic acid deficiency
EFO:1001067	EFO:1000822	\N	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	EFO:1000822	"A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" []	212881	\N	\N	EFO	1	EFO	nutritional deficiency disease	ascorbic acid deficiency
EFO:0001069	EFO:1001067	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1000822	"A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" []	566614	\N	\N	EFO	2	EFO	nutritional disorder	ascorbic acid deficiency
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000822	"A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" []	1148025	\N	\N	EFO	3	EFO	metabolic disease	ascorbic acid deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000822	"A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" []	2030309	\N	\N	EFO	4	EFO	disease	ascorbic acid deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000822	"A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" []	3180994	\N	\N	EFO	5	EFO	disposition	ascorbic acid deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000822	"A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" []	4389520	\N	\N	EFO	6	EFO	material property	ascorbic acid deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000822	"A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" []	5409338	\N	\N	EFO	7	EFO	experimental factor	ascorbic acid deficiency
EFO:1000823	\N	\N	"A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)" []	EFO:1000823	"A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)" []	70410	\N	\N	EFO	0	EFO	aseptic meningitis	aseptic meningitis
EFO:0000584	EFO:1000823	\N	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	EFO:1000823	"A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)" []	212882	\N	\N	EFO	1	EFO	infectious meningitis	aseptic meningitis
EFO:0005741	EFO:0000584	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000823	"A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)" []	566615	\N	\N	EFO	2	EFO	infectious disease	aseptic meningitis
EFO:0005774	EFO:0000584	\N	"A disease affecting the brain or part of the brain." []	EFO:1000823	"A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)" []	566616	\N	\N	EFO	2	EFO	brain disease	aseptic meningitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000823	"A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)" []	1148026	\N	\N	EFO	3	EFO	disease	aseptic meningitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000823	"A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)" []	1148027	\N	\N	EFO	3	EFO	nervous system disease	aseptic meningitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000823	"A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)" []	3180996	\N	\N	EFO	5	EFO	disposition	aseptic meningitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000823	"A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)" []	2030311	\N	\N	EFO	4	EFO	disease	aseptic meningitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000823	"A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)" []	4133061	\N	\N	EFO	6	EFO	material property	aseptic meningitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000823	"A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)" []	5181307	\N	\N	EFO	7	EFO	experimental factor	aseptic meningitis
EFO:1000824	\N	\N	"Respiratory failure in the newborn. (Dorland, 27th ed)" []	EFO:1000824	"Respiratory failure in the newborn. (Dorland, 27th ed)" []	70411	\N	\N	EFO	0	EFO	asphyxia neonatorum	asphyxia neonatorum
EFO:0000684	EFO:1000824	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000824	"Respiratory failure in the newborn. (Dorland, 27th ed)" []	212883	\N	\N	EFO	1	EFO	respiratory system disease	asphyxia neonatorum
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000824	"Respiratory failure in the newborn. (Dorland, 27th ed)" []	566617	\N	\N	EFO	2	EFO	disease	asphyxia neonatorum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000824	"Respiratory failure in the newborn. (Dorland, 27th ed)" []	1148028	\N	\N	EFO	3	EFO	disposition	asphyxia neonatorum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000824	"Respiratory failure in the newborn. (Dorland, 27th ed)" []	2030312	\N	\N	EFO	4	EFO	material property	asphyxia neonatorum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000824	"Respiratory failure in the newborn. (Dorland, 27th ed)" []	3180997	\N	\N	EFO	5	EFO	experimental factor	asphyxia neonatorum
EFO:1000825	\N	\N	"Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects." []	EFO:1000825	"Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects." []	70412	\N	\N	EFO	0	EFO	atrial heart septal defect	atrial heart septal defect
EFO:0003777	EFO:1000825	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000825	"Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects." []	212884	\N	\N	EFO	1	EFO	heart disease	atrial heart septal defect
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000825	"Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects." []	566618	\N	\N	EFO	2	EFO	cardiovascular disease	atrial heart septal defect
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000825	"Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects." []	1148029	\N	\N	EFO	3	EFO	disease	atrial heart septal defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000825	"Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects." []	2030313	\N	\N	EFO	4	EFO	disposition	atrial heart septal defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000825	"Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects." []	3180998	\N	\N	EFO	5	EFO	material property	atrial heart septal defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000825	"Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects." []	4389522	\N	\N	EFO	6	EFO	experimental factor	atrial heart septal defect
EFO:1000826	\N	\N	"GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis." []	EFO:1000826	"GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis." []	70413	\N	\N	EFO	0	EFO	atrophic gastritis	atrophic gastritis
EFO:0000217	EFO:1000826	\N	"Inflammation of the stomach." []	EFO:1000826	"GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis." []	212885	\N	\N	EFO	1	EFO	gastritis	atrophic gastritis
EFO:0000405	EFO:0000217	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000826	"GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis." []	566619	\N	\N	EFO	2	EFO	digestive system disease	atrophic gastritis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000826	"GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis." []	1148030	\N	\N	EFO	3	EFO	disease	atrophic gastritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000826	"GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis." []	2030314	\N	\N	EFO	4	EFO	disposition	atrophic gastritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000826	"GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis." []	3180999	\N	\N	EFO	5	EFO	material property	atrophic gastritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000826	"GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis." []	4389523	\N	\N	EFO	6	EFO	experimental factor	atrophic gastritis
EFO:1000827	\N	\N	"Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM." []	EFO:1000827	"Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM." []	70414	\N	\N	EFO	0	EFO	atrophy of thyroid	atrophy of thyroid
EFO:1000627	EFO:1000827	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000827	"Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM." []	212886	\N	\N	EFO	1	EFO	thyroid disease	atrophy of thyroid
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000827	"Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM." []	566620	\N	\N	EFO	2	EFO	endocrine system disease	atrophy of thyroid
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000827	"Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM." []	1148031	\N	\N	EFO	3	EFO	disease	atrophy of thyroid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000827	"Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM." []	2030315	\N	\N	EFO	4	EFO	disposition	atrophy of thyroid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000827	"Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM." []	3181000	\N	\N	EFO	5	EFO	material property	atrophy of thyroid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000827	"Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM." []	4389524	\N	\N	EFO	6	EFO	experimental factor	atrophy of thyroid
EFO:1000828	\N	\N	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	EFO:1000828	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	70415	\N	\N	EFO	0	EFO	B- and T-cell mixed leukemia	B- and T-cell mixed leukemia
EFO:0000220	EFO:1000828	\N	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	EFO:1000828	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	212887	\N	\N	EFO	1	EFO	acute lymphoblastic leukemia	B- and T-cell mixed leukemia
EFO:0002425	EFO:0000220	\N	"a neoplasm arising from immature B and T cells" []	EFO:1000828	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	566621	\N	\N	EFO	2	EFO	neoplasm of immature B and T cells	B- and T-cell mixed leukemia
EFO:0001642	EFO:0002425	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000828	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	1148032	\N	\N	EFO	3	EFO	lymphoid neoplasm	B- and T-cell mixed leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000828	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	2030316	\N	\N	EFO	4	EFO	cancer	B- and T-cell mixed leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000828	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	2030317	\N	\N	EFO	4	EFO	hematological system disease	B- and T-cell mixed leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000828	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	3181001	\N	\N	EFO	5	EFO	neoplasm	B- and T-cell mixed leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000828	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	3181002	\N	\N	EFO	5	EFO	disease	B- and T-cell mixed leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000828	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	4389525	\N	\N	EFO	6	EFO	disease	B- and T-cell mixed leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000828	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	5409339	\N	\N	EFO	7	EFO	disposition	B- and T-cell mixed leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000828	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	5996741	\N	\N	EFO	8	EFO	material property	B- and T-cell mixed leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000828	"An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS." []	6550411	\N	\N	EFO	9	EFO	experimental factor	B- and T-cell mixed leukemia
EFO:1000829	\N	\N	"Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia." []	EFO:1000829	"Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia." []	70416	\N	\N	EFO	0	EFO	bacterial conjunctivitis	bacterial conjunctivitis
EFO:1000203	EFO:1000829	\N	"Any disorder of the conjunctiva. " []	EFO:1000829	"Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia." []	212888	\N	\N	EFO	1	EFO	Conjunctival Disorder	bacterial conjunctivitis
EFO:0003966	EFO:1000203	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000829	"Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia." []	566622	\N	\N	EFO	2	EFO	eye disease	bacterial conjunctivitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000829	"Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia." []	1148033	\N	\N	EFO	3	EFO	disease	bacterial conjunctivitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000829	"Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia." []	2030318	\N	\N	EFO	4	EFO	disposition	bacterial conjunctivitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000829	"Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia." []	3181003	\N	\N	EFO	5	EFO	material property	bacterial conjunctivitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000829	"Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia." []	4389527	\N	\N	EFO	6	EFO	experimental factor	bacterial conjunctivitis
EFO:1000830	\N	\N	"Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." []	EFO:1000830	"Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." []	70417	\N	\N	EFO	0	EFO	bacterial endocarditis	bacterial endocarditis
EFO:0000465	EFO:1000830	\N	"Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." []	EFO:1000830	"Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." []	212889	\N	\N	EFO	1	EFO	endocarditis	bacterial endocarditis
EFO:0003777	EFO:0000465	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000830	"Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." []	566623	\N	\N	EFO	2	EFO	heart disease	bacterial endocarditis
EFO:0004264	EFO:0000465	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000830	"Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." []	566624	\N	\N	EFO	2	EFO	vascular disease	bacterial endocarditis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000830	"Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." []	1148034	\N	\N	EFO	3	EFO	cardiovascular disease	bacterial endocarditis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000830	"Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." []	1148035	\N	\N	EFO	3	EFO	cardiovascular disease	bacterial endocarditis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000830	"Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." []	2030319	\N	\N	EFO	4	EFO	disease	bacterial endocarditis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000830	"Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." []	3181004	\N	\N	EFO	5	EFO	disposition	bacterial endocarditis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000830	"Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." []	4389528	\N	\N	EFO	6	EFO	material property	bacterial endocarditis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000830	"Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." []	5409341	\N	\N	EFO	7	EFO	experimental factor	bacterial endocarditis
EFO:1000831	\N	\N	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	EFO:1000831	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	70418	\N	\N	EFO	0	EFO	bacterial meningitis	bacterial meningitis
EFO:0000584	EFO:1000831	\N	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	EFO:1000831	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	212890	\N	\N	EFO	1	EFO	infectious meningitis	bacterial meningitis
EFO:0005741	EFO:0000584	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000831	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	566625	\N	\N	EFO	2	EFO	infectious disease	bacterial meningitis
EFO:0005774	EFO:0000584	\N	"A disease affecting the brain or part of the brain." []	EFO:1000831	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	566626	\N	\N	EFO	2	EFO	brain disease	bacterial meningitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000831	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	1148036	\N	\N	EFO	3	EFO	disease	bacterial meningitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000831	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	1148037	\N	\N	EFO	3	EFO	nervous system disease	bacterial meningitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000831	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	3181006	\N	\N	EFO	5	EFO	disposition	bacterial meningitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000831	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	2030321	\N	\N	EFO	4	EFO	disease	bacterial meningitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000831	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	4133062	\N	\N	EFO	6	EFO	material property	bacterial meningitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000831	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	5181308	\N	\N	EFO	7	EFO	experimental factor	bacterial meningitis
EFO:1000832	\N	\N	"Infections with bacteria of the genus BACTEROIDES." []	EFO:1000832	"Infections with bacteria of the genus BACTEROIDES." []	70419	\N	\N	EFO	0	EFO	Bacteroides infectious disease	Bacteroides infectious disease
EFO:0000771	EFO:1000832	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000832	"Infections with bacteria of the genus BACTEROIDES." []	212891	\N	\N	EFO	1	EFO	bacterial disease	Bacteroides infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000832	"Infections with bacteria of the genus BACTEROIDES." []	566627	\N	\N	EFO	2	EFO	infectious disease	Bacteroides infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000832	"Infections with bacteria of the genus BACTEROIDES." []	1148038	\N	\N	EFO	3	EFO	disease	Bacteroides infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000832	"Infections with bacteria of the genus BACTEROIDES." []	2030322	\N	\N	EFO	4	EFO	disposition	Bacteroides infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000832	"Infections with bacteria of the genus BACTEROIDES." []	3181007	\N	\N	EFO	5	EFO	material property	Bacteroides infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000832	"Infections with bacteria of the genus BACTEROIDES." []	4389530	\N	\N	EFO	6	EFO	experimental factor	Bacteroides infectious disease
EFO:1000833	\N	\N	"Inflammation of the head of the PENIS, glans penis." []	EFO:1000833	"Inflammation of the head of the PENIS, glans penis." []	70420	\N	\N	EFO	0	EFO	balanitis	balanitis
EFO:0000512	EFO:1000833	\N	"any diease of the reproductive system" []	EFO:1000833	"Inflammation of the head of the PENIS, glans penis." []	212892	\N	\N	EFO	1	EFO	reproductive system disease	balanitis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000833	"Inflammation of the head of the PENIS, glans penis." []	566628	\N	\N	EFO	2	EFO	disease	balanitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000833	"Inflammation of the head of the PENIS, glans penis." []	1148039	\N	\N	EFO	3	EFO	disposition	balanitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000833	"Inflammation of the head of the PENIS, glans penis." []	2030323	\N	\N	EFO	4	EFO	material property	balanitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000833	"Inflammation of the head of the PENIS, glans penis." []	3181008	\N	\N	EFO	5	EFO	experimental factor	balanitis
EFO:1000834	\N	\N	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	70421	\N	\N	EFO	0	EFO	basophil adenoma	basophil adenoma
EFO:1000478	EFO:1000834	\N	"A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	212893	\N	\N	EFO	1	EFO	Pituitary Gland Adenoma	basophil adenoma
EFO:0000232	EFO:1000478	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	566629	\N	\N	EFO	2	EFO	adenoma	basophil adenoma
EFO:0003769	EFO:1000478	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	566630	\N	\N	EFO	2	EFO	endocrine neoplasm	basophil adenoma
EFO:0003833	EFO:1000478	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	566631	\N	\N	EFO	2	EFO	brain neoplasm	basophil adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	1148040	\N	\N	EFO	3	EFO	benign neoplasm	basophil adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	1148041	\N	\N	EFO	3	EFO	neoplasm	basophil adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	1148042	\N	\N	EFO	3	EFO	endocrine system disease	basophil adenoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	1148043	\N	\N	EFO	3	EFO	neoplasm	basophil adenoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	1148044	\N	\N	EFO	3	EFO	brain disease	basophil adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	2030324	\N	\N	EFO	4	EFO	neoplasm	basophil adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	3181009	\N	\N	EFO	5	EFO	disease	basophil adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	2030326	\N	\N	EFO	4	EFO	disease	basophil adenoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	2030327	\N	\N	EFO	4	EFO	nervous system disease	basophil adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	4133063	\N	\N	EFO	6	EFO	disposition	basophil adenoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	3181011	\N	\N	EFO	5	EFO	disease	basophil adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	5181309	\N	\N	EFO	7	EFO	material property	basophil adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000834	"A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" []	5996742	\N	\N	EFO	8	EFO	experimental factor	basophil adenoma
EFO:1000835	\N	\N	"A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." []	EFO:1000835	"A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." []	70422	\N	\N	EFO	0	EFO	benign fibrous mesothelioma	benign fibrous mesothelioma
EFO:0000588	EFO:1000835	\N	"A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." []	EFO:1000835	"A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." []	212894	\N	\N	EFO	1	EFO	mesothelioma	benign fibrous mesothelioma
EFO:0000311	EFO:0000588	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000835	"A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." []	566632	\N	\N	EFO	2	EFO	cancer	benign fibrous mesothelioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000835	"A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." []	1148045	\N	\N	EFO	3	EFO	neoplasm	benign fibrous mesothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000835	"A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." []	2030328	\N	\N	EFO	4	EFO	disease	benign fibrous mesothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000835	"A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." []	3181012	\N	\N	EFO	5	EFO	disposition	benign fibrous mesothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000835	"A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." []	4389532	\N	\N	EFO	6	EFO	material property	benign fibrous mesothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000835	"A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." []	5409343	\N	\N	EFO	7	EFO	experimental factor	benign fibrous mesothelioma
EFO:1000836	\N	\N	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	70423	\N	\N	EFO	0	EFO	benign monoclonal gammopathy	benign monoclonal gammopathy
EFO:0000203	EFO:1000836	\N	"A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	212895	\N	\N	EFO	1	EFO	monoclonal gammopathy	benign monoclonal gammopathy
EFO:0000200	EFO:0000203	\N	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	566633	\N	\N	EFO	2	EFO	plasma cell neoplasm	benign monoclonal gammopathy
EFO:0000096	EFO:0000200	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	1148046	\N	\N	EFO	3	EFO	neoplasm of mature B-cells	benign monoclonal gammopathy
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	2030329	\N	\N	EFO	4	EFO	lymphoid neoplasm	benign monoclonal gammopathy
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	3181013	\N	\N	EFO	5	EFO	cancer	benign monoclonal gammopathy
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	3181014	\N	\N	EFO	5	EFO	hematological system disease	benign monoclonal gammopathy
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	4389533	\N	\N	EFO	6	EFO	neoplasm	benign monoclonal gammopathy
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	4389534	\N	\N	EFO	6	EFO	disease	benign monoclonal gammopathy
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	5409344	\N	\N	EFO	7	EFO	disease	benign monoclonal gammopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	6147627	\N	\N	EFO	8	EFO	disposition	benign monoclonal gammopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	6550412	\N	\N	EFO	9	EFO	material property	benign monoclonal gammopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000836	"Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia." []	6888983	\N	\N	EFO	10	EFO	experimental factor	benign monoclonal gammopathy
EFO:1000837	\N	\N	"A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed)" []	EFO:1000837	"A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed)" []	70424	\N	\N	EFO	0	EFO	beriberi	beriberi
EFO:1001067	EFO:1000837	\N	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	EFO:1000837	"A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed)" []	212896	\N	\N	EFO	1	EFO	nutritional deficiency disease	beriberi
EFO:0001069	EFO:1001067	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1000837	"A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed)" []	566634	\N	\N	EFO	2	EFO	nutritional disorder	beriberi
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000837	"A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed)" []	1148047	\N	\N	EFO	3	EFO	metabolic disease	beriberi
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000837	"A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed)" []	2030330	\N	\N	EFO	4	EFO	disease	beriberi
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000837	"A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed)" []	3181015	\N	\N	EFO	5	EFO	disposition	beriberi
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000837	"A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed)" []	4389535	\N	\N	EFO	6	EFO	material property	beriberi
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000837	"A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed)" []	5409346	\N	\N	EFO	7	EFO	experimental factor	beriberi
EFO:1000838	\N	\N	"Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (DUODENOGASTRIC REFLUX); to the esophagus (GASTROESOPHAGEAL REFLUX); or to the PANCREAS." []	EFO:1000838	"Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (DUODENOGASTRIC REFLUX); to the esophagus (GASTROESOPHAGEAL REFLUX); or to the PANCREAS." []	70425	\N	\N	EFO	0	EFO	bile reflux	bile reflux
EFO:0000405	EFO:1000838	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000838	"Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (DUODENOGASTRIC REFLUX); to the esophagus (GASTROESOPHAGEAL REFLUX); or to the PANCREAS." []	212897	\N	\N	EFO	1	EFO	digestive system disease	bile reflux
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000838	"Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (DUODENOGASTRIC REFLUX); to the esophagus (GASTROESOPHAGEAL REFLUX); or to the PANCREAS." []	566635	\N	\N	EFO	2	EFO	disease	bile reflux
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000838	"Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (DUODENOGASTRIC REFLUX); to the esophagus (GASTROESOPHAGEAL REFLUX); or to the PANCREAS." []	1148048	\N	\N	EFO	3	EFO	disposition	bile reflux
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000838	"Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (DUODENOGASTRIC REFLUX); to the esophagus (GASTROESOPHAGEAL REFLUX); or to the PANCREAS." []	2030331	\N	\N	EFO	4	EFO	material property	bile reflux
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000838	"Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (DUODENOGASTRIC REFLUX); to the esophagus (GASTROESOPHAGEAL REFLUX); or to the PANCREAS." []	3181016	\N	\N	EFO	5	EFO	experimental factor	bile reflux
EFO:1000839	\N	\N	"Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths." []	EFO:1000839	"Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths." []	70426	\N	\N	EFO	0	EFO	bladder calculus	bladder calculus
EFO:1000018	EFO:1000839	\N	"A disorder affecting the urinary bladder" []	EFO:1000839	"Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths." []	212898	\N	\N	EFO	1	EFO	bladder disease	bladder calculus
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000839	"Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths." []	566636	\N	\N	EFO	2	EFO	disease	bladder calculus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000839	"Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths." []	1148049	\N	\N	EFO	3	EFO	disposition	bladder calculus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000839	"Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths." []	2030332	\N	\N	EFO	4	EFO	material property	bladder calculus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000839	"Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths." []	3181017	\N	\N	EFO	5	EFO	experimental factor	bladder calculus
EFO:1000840	\N	\N	"Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands." []	EFO:1000840	"Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands." []	70427	\N	\N	EFO	0	EFO	bladder neck obstruction	bladder neck obstruction
EFO:1000018	EFO:1000840	\N	"A disorder affecting the urinary bladder" []	EFO:1000840	"Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands." []	212899	\N	\N	EFO	1	EFO	bladder disease	bladder neck obstruction
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000840	"Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands." []	566637	\N	\N	EFO	2	EFO	disease	bladder neck obstruction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000840	"Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands." []	1148050	\N	\N	EFO	3	EFO	disposition	bladder neck obstruction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000840	"Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands." []	2030333	\N	\N	EFO	4	EFO	material property	bladder neck obstruction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000840	"Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands." []	3181018	\N	\N	EFO	5	EFO	experimental factor	bladder neck obstruction
EFO:1000841	\N	\N	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	EFO:1000841	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	70428	\N	\N	EFO	0	EFO	blue nevus	blue nevus
EFO:0000625	EFO:1000841	\N	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	EFO:1000841	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	212900	\N	\N	EFO	1	EFO	nevus	blue nevus
EFO:0002422	EFO:0000625	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000841	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	566638	\N	\N	EFO	2	EFO	benign neoplasm	blue nevus
EFO:0004198	EFO:0000625	\N	"Tumors or cancer of the SKIN." []	EFO:1000841	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	566639	\N	\N	EFO	2	EFO	skin neoplasm	blue nevus
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000841	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	1148051	\N	\N	EFO	3	EFO	neoplasm	blue nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000841	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	1148052	\N	\N	EFO	3	EFO	neoplasm	blue nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000841	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	1148053	\N	\N	EFO	3	EFO	skin disease	blue nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000841	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	2030334	\N	\N	EFO	4	EFO	disease	blue nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000841	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	2030335	\N	\N	EFO	4	EFO	disease	blue nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000841	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	3181019	\N	\N	EFO	5	EFO	disposition	blue nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000841	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	4389536	\N	\N	EFO	6	EFO	material property	blue nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000841	"Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." []	5409347	\N	\N	EFO	7	EFO	experimental factor	blue nevus
EFO:1000842	\N	\N	"Infections with bacteria of the genus BORRELIA." []	EFO:1000842	"Infections with bacteria of the genus BORRELIA." []	70429	\N	\N	EFO	0	EFO	Borrelia infectious disease	Borrelia infectious disease
EFO:0000771	EFO:1000842	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000842	"Infections with bacteria of the genus BORRELIA." []	212901	\N	\N	EFO	1	EFO	bacterial disease	Borrelia infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000842	"Infections with bacteria of the genus BORRELIA." []	566640	\N	\N	EFO	2	EFO	infectious disease	Borrelia infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000842	"Infections with bacteria of the genus BORRELIA." []	1148054	\N	\N	EFO	3	EFO	disease	Borrelia infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000842	"Infections with bacteria of the genus BORRELIA." []	2030336	\N	\N	EFO	4	EFO	disposition	Borrelia infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000842	"Infections with bacteria of the genus BORRELIA." []	3181020	\N	\N	EFO	5	EFO	material property	Borrelia infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000842	"Infections with bacteria of the genus BORRELIA." []	4389537	\N	\N	EFO	6	EFO	experimental factor	Borrelia infectious disease
EFO:1000843	\N	\N	"A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)" []	EFO:1000843	"A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)" []	70430	\N	\N	EFO	0	EFO	brachial plexus neuritis	brachial plexus neuritis
EFO:1000844	EFO:1000843	\N	"Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)" []	EFO:1000843	"A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)" []	212902	\N	\N	EFO	1	EFO	brachial plexus neuropathy	brachial plexus neuritis
EFO:0000618	EFO:1000844	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000843	"A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)" []	566641	\N	\N	EFO	2	EFO	nervous system disease	brachial plexus neuritis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000843	"A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)" []	1148055	\N	\N	EFO	3	EFO	disease	brachial plexus neuritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000843	"A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)" []	2030337	\N	\N	EFO	4	EFO	disposition	brachial plexus neuritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000843	"A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)" []	3181021	\N	\N	EFO	5	EFO	material property	brachial plexus neuritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000843	"A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)" []	4389538	\N	\N	EFO	6	EFO	experimental factor	brachial plexus neuritis
EFO:1000844	\N	\N	"Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)" []	EFO:1000844	"Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)" []	70431	\N	\N	EFO	0	EFO	brachial plexus neuropathy	brachial plexus neuropathy
EFO:0000618	EFO:1000844	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000844	"Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)" []	212903	\N	\N	EFO	1	EFO	nervous system disease	brachial plexus neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000844	"Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)" []	566642	\N	\N	EFO	2	EFO	disease	brachial plexus neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000844	"Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)" []	1148056	\N	\N	EFO	3	EFO	disposition	brachial plexus neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000844	"Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)" []	2030338	\N	\N	EFO	4	EFO	material property	brachial plexus neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000844	"Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)" []	3181022	\N	\N	EFO	5	EFO	experimental factor	brachial plexus neuropathy
EFO:1000845	\N	\N	"Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" []	EFO:1000845	"Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" []	70432	\N	\N	EFO	0	EFO	brain edema	brain edema
EFO:0005774	EFO:1000845	\N	"A disease affecting the brain or part of the brain." []	EFO:1000845	"Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" []	212904	\N	\N	EFO	1	EFO	brain disease	brain edema
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000845	"Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" []	566643	\N	\N	EFO	2	EFO	nervous system disease	brain edema
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000845	"Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" []	1148057	\N	\N	EFO	3	EFO	disease	brain edema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000845	"Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" []	2030339	\N	\N	EFO	4	EFO	disposition	brain edema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000845	"Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" []	3181023	\N	\N	EFO	5	EFO	material property	brain edema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000845	"Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" []	4389539	\N	\N	EFO	6	EFO	experimental factor	brain edema
EFO:1000846	\N	\N	"A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions." []	EFO:1000846	"A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions." []	70433	\N	\N	EFO	0	EFO	brain hypoxia-Ischemia	brain hypoxia-Ischemia
EFO:0005774	EFO:1000846	\N	"A disease affecting the brain or part of the brain." []	EFO:1000846	"A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions." []	212905	\N	\N	EFO	1	EFO	brain disease	brain hypoxia-Ischemia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000846	"A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions." []	566644	\N	\N	EFO	2	EFO	nervous system disease	brain hypoxia-Ischemia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000846	"A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions." []	1148058	\N	\N	EFO	3	EFO	disease	brain hypoxia-Ischemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000846	"A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions." []	2030340	\N	\N	EFO	4	EFO	disposition	brain hypoxia-Ischemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000846	"A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions." []	3181024	\N	\N	EFO	5	EFO	material property	brain hypoxia-Ischemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000846	"A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions." []	4389540	\N	\N	EFO	6	EFO	experimental factor	brain hypoxia-Ischemia
EFO:1000847	\N	\N	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	EFO:1000847	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	70434	\N	\N	EFO	0	EFO	brain stem infarction	brain stem infarction
EFO:0004277	EFO:1000847	\N	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	EFO:1000847	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	212906	\N	\N	EFO	1	EFO	brain infarction	brain stem infarction
EFO:0003763	EFO:0004277	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1000847	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	566645	\N	\N	EFO	2	EFO	cerebrovascular disorder	brain stem infarction
EFO:0005774	EFO:0004277	\N	"A disease affecting the brain or part of the brain." []	EFO:1000847	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	566646	\N	\N	EFO	2	EFO	brain disease	brain stem infarction
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000847	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	1148059	\N	\N	EFO	3	EFO	vascular disease	brain stem infarction
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000847	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	1148060	\N	\N	EFO	3	EFO	nervous system disease	brain stem infarction
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000847	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	2030341	\N	\N	EFO	4	EFO	cardiovascular disease	brain stem infarction
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000847	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	2030342	\N	\N	EFO	4	EFO	disease	brain stem infarction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000847	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	3181025	\N	\N	EFO	5	EFO	disease	brain stem infarction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000847	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	4389541	\N	\N	EFO	6	EFO	disposition	brain stem infarction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000847	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	5181310	\N	\N	EFO	7	EFO	material property	brain stem infarction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000847	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	5996743	\N	\N	EFO	8	EFO	experimental factor	brain stem infarction
EFO:1000848	\N	\N	"A fluid-filled closed cavity or sac that is lined by an EPITHELIUM and found in the BREAST. It may appear as a single large cyst in one breast, multifocal, or bilateral in FIBROCYSTIC BREAST DISEASE." []	EFO:1000848	"A fluid-filled closed cavity or sac that is lined by an EPITHELIUM and found in the BREAST. It may appear as a single large cyst in one breast, multifocal, or bilateral in FIBROCYSTIC BREAST DISEASE." []	70435	\N	\N	EFO	0	EFO	breast cyst	breast cyst
EFO:0003869	EFO:1000848	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:1000848	"A fluid-filled closed cavity or sac that is lined by an EPITHELIUM and found in the BREAST. It may appear as a single large cyst in one breast, multifocal, or bilateral in FIBROCYSTIC BREAST DISEASE." []	212907	\N	\N	EFO	1	EFO	breast neoplasm	breast cyst
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000848	"A fluid-filled closed cavity or sac that is lined by an EPITHELIUM and found in the BREAST. It may appear as a single large cyst in one breast, multifocal, or bilateral in FIBROCYSTIC BREAST DISEASE." []	566647	\N	\N	EFO	2	EFO	neoplasm	breast cyst
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000848	"A fluid-filled closed cavity or sac that is lined by an EPITHELIUM and found in the BREAST. It may appear as a single large cyst in one breast, multifocal, or bilateral in FIBROCYSTIC BREAST DISEASE." []	1148061	\N	\N	EFO	3	EFO	disease	breast cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000848	"A fluid-filled closed cavity or sac that is lined by an EPITHELIUM and found in the BREAST. It may appear as a single large cyst in one breast, multifocal, or bilateral in FIBROCYSTIC BREAST DISEASE." []	2030343	\N	\N	EFO	4	EFO	disposition	breast cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000848	"A fluid-filled closed cavity or sac that is lined by an EPITHELIUM and found in the BREAST. It may appear as a single large cyst in one breast, multifocal, or bilateral in FIBROCYSTIC BREAST DISEASE." []	3181027	\N	\N	EFO	5	EFO	material property	breast cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000848	"A fluid-filled closed cavity or sac that is lined by an EPITHELIUM and found in the BREAST. It may appear as a single large cyst in one breast, multifocal, or bilateral in FIBROCYSTIC BREAST DISEASE." []	4389543	\N	\N	EFO	6	EFO	experimental factor	breast cyst
EFO:1000849	\N	\N	"Tumors or cancer of the BRONCHI." []	EFO:1000849	"Tumors or cancer of the BRONCHI." []	70436	\N	\N	EFO	0	EFO	bronchial neoplasm	bronchial neoplasm
EFO:0003853	EFO:1000849	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1000849	"Tumors or cancer of the BRONCHI." []	212908	\N	\N	EFO	1	EFO	respiratory system neoplasm	bronchial neoplasm
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000849	"Tumors or cancer of the BRONCHI." []	566648	\N	\N	EFO	2	EFO	neoplasm	bronchial neoplasm
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000849	"Tumors or cancer of the BRONCHI." []	566649	\N	\N	EFO	2	EFO	respiratory system disease	bronchial neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000849	"Tumors or cancer of the BRONCHI." []	1148062	\N	\N	EFO	3	EFO	disease	bronchial neoplasm
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000849	"Tumors or cancer of the BRONCHI." []	1148063	\N	\N	EFO	3	EFO	disease	bronchial neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000849	"Tumors or cancer of the BRONCHI." []	2030344	\N	\N	EFO	4	EFO	disposition	bronchial neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000849	"Tumors or cancer of the BRONCHI." []	3181028	\N	\N	EFO	5	EFO	material property	bronchial neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000849	"Tumors or cancer of the BRONCHI." []	4389544	\N	\N	EFO	6	EFO	experimental factor	bronchial neoplasm
EFO:1000850	\N	\N	"A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders." []	EFO:1000850	"A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders." []	70437	\N	\N	EFO	0	EFO	burning mouth syndrome	burning mouth syndrome
EFO:0000524	EFO:1000850	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000850	"A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders." []	212909	\N	\N	EFO	1	EFO	head disease	burning mouth syndrome
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000850	"A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders." []	566650	\N	\N	EFO	2	EFO	disease	burning mouth syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000850	"A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders." []	1148064	\N	\N	EFO	3	EFO	disposition	burning mouth syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000850	"A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders." []	2030345	\N	\N	EFO	4	EFO	material property	burning mouth syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000850	"A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders." []	3181029	\N	\N	EFO	5	EFO	experimental factor	burning mouth syndrome
EFO:1000851	\N	\N	"A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." []	EFO:1000851	"A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." []	70438	\N	\N	EFO	0	EFO	byssinosis	byssinosis
Orphanet:182098	EFO:1000851	\N	"" []	EFO:1000851	"A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." []	212910	\N	\N	EFO	1	EFO	pneumoconiosis	byssinosis
EFO:0000771	Orphanet:182098	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000851	"A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." []	566651	\N	\N	EFO	2	EFO	bacterial disease	byssinosis
EFO:0003818	Orphanet:182098	\N	"Pathological processes involving any part of the LUNG." []	EFO:1000851	"A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." []	566652	\N	\N	EFO	2	EFO	lung disease	byssinosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000851	"A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." []	1148065	\N	\N	EFO	3	EFO	infectious disease	byssinosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000851	"A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." []	1148066	\N	\N	EFO	3	EFO	respiratory system disease	byssinosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000851	"A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." []	2030346	\N	\N	EFO	4	EFO	disease	byssinosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000851	"A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." []	2030347	\N	\N	EFO	4	EFO	disease	byssinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000851	"A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." []	3181030	\N	\N	EFO	5	EFO	disposition	byssinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000851	"A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." []	4389545	\N	\N	EFO	6	EFO	material property	byssinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000851	"A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest." []	5409349	\N	\N	EFO	7	EFO	experimental factor	byssinosis
EFO:1000852	\N	\N	"A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)" []	EFO:1000852	"A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)" []	70439	\N	\N	EFO	0	EFO	carcinoid syndrome	carcinoid syndrome
EFO:0004243	EFO:1000852	\N	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	EFO:1000852	"A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)" []	212911	\N	\N	EFO	1	EFO	carcinoid tumor	carcinoid syndrome
EFO:0000616	EFO:0004243	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000852	"A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)" []	566653	\N	\N	EFO	2	EFO	neoplasm	carcinoid syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000852	"A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)" []	1148067	\N	\N	EFO	3	EFO	disease	carcinoid syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000852	"A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)" []	2030348	\N	\N	EFO	4	EFO	disposition	carcinoid syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000852	"A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)" []	3181031	\N	\N	EFO	5	EFO	material property	carcinoid syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000852	"A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)" []	4389546	\N	\N	EFO	6	EFO	experimental factor	carcinoid syndrome
EFO:1000853	\N	\N	"Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." []	EFO:1000853	"Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." []	70440	\N	\N	EFO	0	EFO	carotid artery thrombosis	carotid artery thrombosis
EFO:0003781	EFO:1000853	\N	"Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." []	EFO:1000853	"Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." []	212912	\N	\N	EFO	1	EFO	carotid artery disease	carotid artery thrombosis
EFO:0004264	EFO:0003781	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000853	"Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." []	566654	\N	\N	EFO	2	EFO	vascular disease	carotid artery thrombosis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000853	"Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." []	1148068	\N	\N	EFO	3	EFO	cardiovascular disease	carotid artery thrombosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000853	"Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." []	2030349	\N	\N	EFO	4	EFO	disease	carotid artery thrombosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000853	"Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." []	3181032	\N	\N	EFO	5	EFO	disposition	carotid artery thrombosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000853	"Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." []	4389547	\N	\N	EFO	6	EFO	material property	carotid artery thrombosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000853	"Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." []	5409350	\N	\N	EFO	7	EFO	experimental factor	carotid artery thrombosis
EFO:1000854	\N	\N	"A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)" []	EFO:1000854	"A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)" []	70441	\N	\N	EFO	0	EFO	causalgia	causalgia
EFO:1001998	EFO:1000854	\N	"Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." []	EFO:1000854	"A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)" []	212913	\N	\N	EFO	1	EFO	complex regional pain syndrome	causalgia
EFO:0000618	EFO:1001998	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000854	"A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)" []	566655	\N	\N	EFO	2	EFO	nervous system disease	causalgia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000854	"A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)" []	1148069	\N	\N	EFO	3	EFO	disease	causalgia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000854	"A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)" []	2030350	\N	\N	EFO	4	EFO	disposition	causalgia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000854	"A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)" []	3181033	\N	\N	EFO	5	EFO	material property	causalgia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000854	"A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)" []	4389548	\N	\N	EFO	6	EFO	experimental factor	causalgia
EFO:1000855	\N	\N	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	70442	\N	\N	EFO	0	EFO	central core myopathy	central core myopathy
Orphanet:97245	EFO:1000855	\N	"" []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	212914	\N	\N	EFO	1	EFO	Congenital myopathy	central core myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	566656	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	central core myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	1148070	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	central core myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	2030351	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	central core myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	3181034	\N	\N	EFO	5	EFO	muscular disease	central core myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	3181035	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	central core myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	4389549	\N	\N	EFO	6	EFO	skeletal system disease	central core myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	4389550	\N	\N	EFO	6	EFO	genetic disorder	central core myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	5409351	\N	\N	EFO	7	EFO	disease	central core myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	5409352	\N	\N	EFO	7	EFO	disease	central core myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	6147629	\N	\N	EFO	8	EFO	disposition	central core myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	6631875	\N	\N	EFO	9	EFO	material property	central core myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000855	"An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)" []	6925319	\N	\N	EFO	10	EFO	experimental factor	central core myopathy
EFO:1000856	\N	\N	"A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" []	EFO:1000856	"A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" []	70443	\N	\N	EFO	0	EFO	central neurocytoma	central neurocytoma
EFO:0007201	EFO:1000856	\N	"A cerebrum cancer that is located_in the cerebral ventricles." []	EFO:1000856	"A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" []	212915	\N	\N	EFO	1	EFO	cerebral ventricle cancer	central neurocytoma
EFO:0003833	EFO:0007201	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000856	"A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" []	566657	\N	\N	EFO	2	EFO	brain neoplasm	central neurocytoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000856	"A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" []	1148071	\N	\N	EFO	3	EFO	neoplasm	central neurocytoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000856	"A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" []	1148072	\N	\N	EFO	3	EFO	brain disease	central neurocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000856	"A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" []	2030352	\N	\N	EFO	4	EFO	disease	central neurocytoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000856	"A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" []	2030353	\N	\N	EFO	4	EFO	nervous system disease	central neurocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000856	"A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" []	4389552	\N	\N	EFO	6	EFO	disposition	central neurocytoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000856	"A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" []	3181037	\N	\N	EFO	5	EFO	disease	central neurocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000856	"A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" []	5181311	\N	\N	EFO	7	EFO	material property	central neurocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000856	"A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" []	5996744	\N	\N	EFO	8	EFO	experimental factor	central neurocytoma
EFO:1000857	\N	\N	"A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)" []	EFO:1000857	"A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)" []	70444	\N	\N	EFO	0	EFO	central pontine myelinolysis	central pontine myelinolysis
EFO:0005774	EFO:1000857	\N	"A disease affecting the brain or part of the brain." []	EFO:1000857	"A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)" []	212916	\N	\N	EFO	1	EFO	brain disease	central pontine myelinolysis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000857	"A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)" []	566658	\N	\N	EFO	2	EFO	nervous system disease	central pontine myelinolysis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000857	"A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)" []	1148073	\N	\N	EFO	3	EFO	disease	central pontine myelinolysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000857	"A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)" []	2030354	\N	\N	EFO	4	EFO	disposition	central pontine myelinolysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000857	"A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)" []	3181038	\N	\N	EFO	5	EFO	material property	central pontine myelinolysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000857	"A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)" []	4389553	\N	\N	EFO	6	EFO	experimental factor	central pontine myelinolysis
EFO:1000858	\N	\N	"Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" []	EFO:1000858	"Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" []	70445	\N	\N	EFO	0	EFO	cerebellum cancer	cerebellum cancer
EFO:0003833	EFO:1000858	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000858	"Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" []	212917	\N	\N	EFO	1	EFO	brain neoplasm	cerebellum cancer
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000858	"Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" []	566659	\N	\N	EFO	2	EFO	neoplasm	cerebellum cancer
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000858	"Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" []	566660	\N	\N	EFO	2	EFO	brain disease	cerebellum cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000858	"Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" []	1148074	\N	\N	EFO	3	EFO	disease	cerebellum cancer
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000858	"Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" []	1148075	\N	\N	EFO	3	EFO	nervous system disease	cerebellum cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000858	"Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" []	3181040	\N	\N	EFO	5	EFO	disposition	cerebellum cancer
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000858	"Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" []	2030356	\N	\N	EFO	4	EFO	disease	cerebellum cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000858	"Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" []	4133064	\N	\N	EFO	6	EFO	material property	cerebellum cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000858	"Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" []	5181312	\N	\N	EFO	7	EFO	experimental factor	cerebellum cancer
EFO:1000859	\N	\N	"Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." []	EFO:1000859	"Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." []	70446	\N	\N	EFO	0	EFO	cerebral arterial disease	cerebral arterial disease
EFO:0003763	EFO:1000859	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1000859	"Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." []	212918	\N	\N	EFO	1	EFO	cerebrovascular disorder	cerebral arterial disease
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000859	"Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." []	566661	\N	\N	EFO	2	EFO	vascular disease	cerebral arterial disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000859	"Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." []	1148076	\N	\N	EFO	3	EFO	cardiovascular disease	cerebral arterial disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000859	"Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." []	2030357	\N	\N	EFO	4	EFO	disease	cerebral arterial disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000859	"Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." []	3181041	\N	\N	EFO	5	EFO	disposition	cerebral arterial disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000859	"Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." []	4389555	\N	\N	EFO	6	EFO	material property	cerebral arterial disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000859	"Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." []	5409354	\N	\N	EFO	7	EFO	experimental factor	cerebral arterial disease
EFO:1000860	\N	\N	"Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." []	EFO:1000860	"Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." []	70447	\N	\N	EFO	0	EFO	cerebral atherosclerosis	cerebral atherosclerosis
EFO:0003914	EFO:1000860	\N	"A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." []	EFO:1000860	"Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." []	212919	\N	\N	EFO	1	EFO	atherosclerosis	cerebral atherosclerosis
EFO:0004264	EFO:0003914	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000860	"Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." []	566662	\N	\N	EFO	2	EFO	vascular disease	cerebral atherosclerosis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000860	"Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." []	1148077	\N	\N	EFO	3	EFO	cardiovascular disease	cerebral atherosclerosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000860	"Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." []	2030358	\N	\N	EFO	4	EFO	disease	cerebral atherosclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000860	"Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." []	3181042	\N	\N	EFO	5	EFO	disposition	cerebral atherosclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000860	"Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." []	4389556	\N	\N	EFO	6	EFO	material property	cerebral atherosclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000860	"Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." []	5409355	\N	\N	EFO	7	EFO	experimental factor	cerebral atherosclerosis
EFO:1000861	\N	\N	"A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the thoracic outlet and caused by a complete or incomplete anomalous CERVICAL RIB or fascial band connecting the tip of a cervical rib with the first thoracic rib. Clinical manifestations may include pain in the neck and shoulder which radiates into the upper extremity, PARESIS or PARALYSIS of brachial plexus innervated muscles; sensory loss; PARESTHESIAS; ISCHEMIA; and EDEMA. (Adams et al., Principles of Neurology, 6th ed, p214)" []	EFO:1000861	"A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the thoracic outlet and caused by a complete or incomplete anomalous CERVICAL RIB or fascial band connecting the tip of a cervical rib with the first thoracic rib. Clinical manifestations may include pain in the neck and shoulder which radiates into the upper extremity, PARESIS or PARALYSIS of brachial plexus innervated muscles; sensory loss; PARESTHESIAS; ISCHEMIA; and EDEMA. (Adams et al., Principles of Neurology, 6th ed, p214)" []	70448	\N	\N	EFO	0	EFO	cervical rib syndrome	cervical rib syndrome
EFO:0000512	EFO:1000861	\N	"any diease of the reproductive system" []	EFO:1000861	"A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the thoracic outlet and caused by a complete or incomplete anomalous CERVICAL RIB or fascial band connecting the tip of a cervical rib with the first thoracic rib. Clinical manifestations may include pain in the neck and shoulder which radiates into the upper extremity, PARESIS or PARALYSIS of brachial plexus innervated muscles; sensory loss; PARESTHESIAS; ISCHEMIA; and EDEMA. (Adams et al., Principles of Neurology, 6th ed, p214)" []	212920	\N	\N	EFO	1	EFO	reproductive system disease	cervical rib syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000861	"A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the thoracic outlet and caused by a complete or incomplete anomalous CERVICAL RIB or fascial band connecting the tip of a cervical rib with the first thoracic rib. Clinical manifestations may include pain in the neck and shoulder which radiates into the upper extremity, PARESIS or PARALYSIS of brachial plexus innervated muscles; sensory loss; PARESTHESIAS; ISCHEMIA; and EDEMA. (Adams et al., Principles of Neurology, 6th ed, p214)" []	566663	\N	\N	EFO	2	EFO	disease	cervical rib syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000861	"A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the thoracic outlet and caused by a complete or incomplete anomalous CERVICAL RIB or fascial band connecting the tip of a cervical rib with the first thoracic rib. Clinical manifestations may include pain in the neck and shoulder which radiates into the upper extremity, PARESIS or PARALYSIS of brachial plexus innervated muscles; sensory loss; PARESTHESIAS; ISCHEMIA; and EDEMA. (Adams et al., Principles of Neurology, 6th ed, p214)" []	1148078	\N	\N	EFO	3	EFO	disposition	cervical rib syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000861	"A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the thoracic outlet and caused by a complete or incomplete anomalous CERVICAL RIB or fascial band connecting the tip of a cervical rib with the first thoracic rib. Clinical manifestations may include pain in the neck and shoulder which radiates into the upper extremity, PARESIS or PARALYSIS of brachial plexus innervated muscles; sensory loss; PARESTHESIAS; ISCHEMIA; and EDEMA. (Adams et al., Principles of Neurology, 6th ed, p214)" []	2030359	\N	\N	EFO	4	EFO	material property	cervical rib syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000861	"A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the thoracic outlet and caused by a complete or incomplete anomalous CERVICAL RIB or fascial band connecting the tip of a cervical rib with the first thoracic rib. Clinical manifestations may include pain in the neck and shoulder which radiates into the upper extremity, PARESIS or PARALYSIS of brachial plexus innervated muscles; sensory loss; PARESTHESIAS; ISCHEMIA; and EDEMA. (Adams et al., Principles of Neurology, 6th ed, p214)" []	3181043	\N	\N	EFO	5	EFO	experimental factor	cervical rib syndrome
EFO:1000862	\N	\N	"Loss or destruction of the epithelial lining of the UTERINE CERVIX." []	EFO:1000862	"Loss or destruction of the epithelial lining of the UTERINE CERVIX." []	70449	\N	\N	EFO	0	EFO	cervix erosion	cervix erosion
EFO:0000512	EFO:1000862	\N	"any diease of the reproductive system" []	EFO:1000862	"Loss or destruction of the epithelial lining of the UTERINE CERVIX." []	212921	\N	\N	EFO	1	EFO	reproductive system disease	cervix erosion
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000862	"Loss or destruction of the epithelial lining of the UTERINE CERVIX." []	566664	\N	\N	EFO	2	EFO	disease	cervix erosion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000862	"Loss or destruction of the epithelial lining of the UTERINE CERVIX." []	1148079	\N	\N	EFO	3	EFO	disposition	cervix erosion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000862	"Loss or destruction of the epithelial lining of the UTERINE CERVIX." []	2030360	\N	\N	EFO	4	EFO	material property	cervix erosion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000862	"Loss or destruction of the epithelial lining of the UTERINE CERVIX." []	3181044	\N	\N	EFO	5	EFO	experimental factor	cervix erosion
EFO:1000863	\N	\N	"Infections with bacteria of the genus CHLAMYDOPHILA." []	EFO:1000863	"Infections with bacteria of the genus CHLAMYDOPHILA." []	70450	\N	\N	EFO	0	EFO	Chlamydophila infectious disease	Chlamydophila infectious disease
EFO:0000771	EFO:1000863	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000863	"Infections with bacteria of the genus CHLAMYDOPHILA." []	212922	\N	\N	EFO	1	EFO	bacterial disease	Chlamydophila infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000863	"Infections with bacteria of the genus CHLAMYDOPHILA." []	566665	\N	\N	EFO	2	EFO	infectious disease	Chlamydophila infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000863	"Infections with bacteria of the genus CHLAMYDOPHILA." []	1148080	\N	\N	EFO	3	EFO	disease	Chlamydophila infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000863	"Infections with bacteria of the genus CHLAMYDOPHILA." []	2030361	\N	\N	EFO	4	EFO	disposition	Chlamydophila infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000863	"Infections with bacteria of the genus CHLAMYDOPHILA." []	3181045	\N	\N	EFO	5	EFO	material property	Chlamydophila infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000863	"Infections with bacteria of the genus CHLAMYDOPHILA." []	4389557	\N	\N	EFO	6	EFO	experimental factor	Chlamydophila infectious disease
EFO:1000864	\N	\N	"Presence or formation of GALLSTONES in the GALLBLADDER." []	EFO:1000864	"Presence or formation of GALLSTONES in the GALLBLADDER." []	70451	\N	\N	EFO	0	EFO	cholecystolithiasis	cholecystolithiasis
EFO:0003832	EFO:1000864	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:1000864	"Presence or formation of GALLSTONES in the GALLBLADDER." []	212923	\N	\N	EFO	1	EFO	gallbladder disease	cholecystolithiasis
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000864	"Presence or formation of GALLSTONES in the GALLBLADDER." []	566666	\N	\N	EFO	2	EFO	digestive system disease	cholecystolithiasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000864	"Presence or formation of GALLSTONES in the GALLBLADDER." []	1148081	\N	\N	EFO	3	EFO	disease	cholecystolithiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000864	"Presence or formation of GALLSTONES in the GALLBLADDER." []	2030362	\N	\N	EFO	4	EFO	disposition	cholecystolithiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000864	"Presence or formation of GALLSTONES in the GALLBLADDER." []	3181046	\N	\N	EFO	5	EFO	material property	cholecystolithiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000864	"Presence or formation of GALLSTONES in the GALLBLADDER." []	4389558	\N	\N	EFO	6	EFO	experimental factor	cholecystolithiasis
EFO:1000865	\N	\N	"Presence or formation of GALLSTONES in the COMMON BILE DUCT." []	EFO:1000865	"Presence or formation of GALLSTONES in the COMMON BILE DUCT." []	70452	\N	\N	EFO	0	EFO	choledocholithiasis	choledocholithiasis
EFO:0001421	EFO:1000865	\N	"Pathological processes of the LIVER." []	EFO:1000865	"Presence or formation of GALLSTONES in the COMMON BILE DUCT." []	212924	\N	\N	EFO	1	EFO	liver disease	choledocholithiasis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000865	"Presence or formation of GALLSTONES in the COMMON BILE DUCT." []	566667	\N	\N	EFO	2	EFO	digestive system disease	choledocholithiasis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000865	"Presence or formation of GALLSTONES in the COMMON BILE DUCT." []	566668	\N	\N	EFO	2	EFO	endocrine system disease	choledocholithiasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000865	"Presence or formation of GALLSTONES in the COMMON BILE DUCT." []	1148082	\N	\N	EFO	3	EFO	disease	choledocholithiasis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000865	"Presence or formation of GALLSTONES in the COMMON BILE DUCT." []	1148083	\N	\N	EFO	3	EFO	disease	choledocholithiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000865	"Presence or formation of GALLSTONES in the COMMON BILE DUCT." []	2030363	\N	\N	EFO	4	EFO	disposition	choledocholithiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000865	"Presence or formation of GALLSTONES in the COMMON BILE DUCT." []	3181047	\N	\N	EFO	5	EFO	material property	choledocholithiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000865	"Presence or formation of GALLSTONES in the COMMON BILE DUCT." []	4389559	\N	\N	EFO	6	EFO	experimental factor	choledocholithiasis
EFO:1000866	\N	\N	"Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." []	EFO:1000866	"Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." []	70453	\N	\N	EFO	0	EFO	choroid cancer	choroid cancer
EFO:0005950	EFO:1000866	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000866	"Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." []	212925	\N	\N	EFO	1	EFO	head and neck neoplasia	choroid cancer
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000866	"Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." []	566669	\N	\N	EFO	2	EFO	head disease	choroid cancer
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000866	"Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." []	566670	\N	\N	EFO	2	EFO	neoplasm	choroid cancer
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000866	"Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." []	1148084	\N	\N	EFO	3	EFO	disease	choroid cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000866	"Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." []	1148085	\N	\N	EFO	3	EFO	disease	choroid cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000866	"Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." []	2030364	\N	\N	EFO	4	EFO	disposition	choroid cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000866	"Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." []	3181048	\N	\N	EFO	5	EFO	material property	choroid cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000866	"Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." []	4389560	\N	\N	EFO	6	EFO	experimental factor	choroid cancer
EFO:1000867	\N	\N	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	70454	\N	\N	EFO	0	EFO	chromophobe adenoma	chromophobe adenoma
EFO:0000232	EFO:1000867	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	212926	\N	\N	EFO	1	EFO	adenoma	chromophobe adenoma
EFO:0003769	EFO:1000867	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	212927	\N	\N	EFO	1	EFO	endocrine neoplasm	chromophobe adenoma
EFO:0003833	EFO:1000867	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	212928	\N	\N	EFO	1	EFO	brain neoplasm	chromophobe adenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	566671	\N	\N	EFO	2	EFO	benign neoplasm	chromophobe adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	566672	\N	\N	EFO	2	EFO	neoplasm	chromophobe adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	566673	\N	\N	EFO	2	EFO	endocrine system disease	chromophobe adenoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	566674	\N	\N	EFO	2	EFO	neoplasm	chromophobe adenoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	566675	\N	\N	EFO	2	EFO	brain disease	chromophobe adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	1148086	\N	\N	EFO	3	EFO	neoplasm	chromophobe adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	2030365	\N	\N	EFO	4	EFO	disease	chromophobe adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	1148088	\N	\N	EFO	3	EFO	disease	chromophobe adenoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	1148089	\N	\N	EFO	3	EFO	nervous system disease	chromophobe adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	3000056	\N	\N	EFO	5	EFO	disposition	chromophobe adenoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	2030367	\N	\N	EFO	4	EFO	disease	chromophobe adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	4133065	\N	\N	EFO	6	EFO	material property	chromophobe adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000867	"A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." []	5181313	\N	\N	EFO	7	EFO	experimental factor	chromophobe adenoma
EFO:1000868	\N	\N	"A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337)" []	EFO:1000868	"A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337)" []	70455	\N	\N	EFO	0	EFO	chronic inflammatory demyelinating polyradiculoneuropathy	chronic inflammatory demyelinating polyradiculoneuropathy
EFO:0005772	EFO:1000868	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:1000868	"A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337)" []	212929	\N	\N	EFO	1	EFO	neurodegenerative disease	chronic inflammatory demyelinating polyradiculoneuropathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000868	"A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337)" []	566676	\N	\N	EFO	2	EFO	nervous system disease	chronic inflammatory demyelinating polyradiculoneuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000868	"A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337)" []	1148090	\N	\N	EFO	3	EFO	disease	chronic inflammatory demyelinating polyradiculoneuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000868	"A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337)" []	2030368	\N	\N	EFO	4	EFO	disposition	chronic inflammatory demyelinating polyradiculoneuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000868	"A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337)" []	3181050	\N	\N	EFO	5	EFO	material property	chronic inflammatory demyelinating polyradiculoneuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000868	"A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337)" []	4389562	\N	\N	EFO	6	EFO	experimental factor	chronic inflammatory demyelinating polyradiculoneuropathy
EFO:1000869	\N	\N	"A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." []	EFO:1000869	"A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." []	70456	\N	\N	EFO	0	EFO	chronic interstitial cystitis	chronic interstitial cystitis
EFO:1000023	EFO:1000869	\N	"Recurrent infections of the urinary bladder" []	EFO:1000869	"A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." []	212930	\N	\N	EFO	1	EFO	chronic cystitis	chronic interstitial cystitis
EFO:1000025	EFO:1000023	\N	"An acute or chronic inflammatory process affecting the bladder." []	EFO:1000869	"A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." []	566677	\N	\N	EFO	2	EFO	cystitis	chronic interstitial cystitis
EFO:1000018	EFO:1000025	\N	"A disorder affecting the urinary bladder" []	EFO:1000869	"A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." []	1148091	\N	\N	EFO	3	EFO	bladder disease	chronic interstitial cystitis
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000869	"A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." []	2030369	\N	\N	EFO	4	EFO	disease	chronic interstitial cystitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000869	"A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." []	3181051	\N	\N	EFO	5	EFO	disposition	chronic interstitial cystitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000869	"A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." []	4389563	\N	\N	EFO	6	EFO	material property	chronic interstitial cystitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000869	"A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." []	5409356	\N	\N	EFO	7	EFO	experimental factor	chronic interstitial cystitis
EFO:1000870	\N	\N	"Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." []	EFO:1000870	"Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." []	70457	\N	\N	EFO	0	EFO	CNS demyelinating autoimmune disease	CNS demyelinating autoimmune disease
EFO:0000618	EFO:1000870	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000870	"Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." []	212931	\N	\N	EFO	1	EFO	nervous system disease	CNS demyelinating autoimmune disease
EFO:0005140	EFO:1000870	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1000870	"Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." []	212932	\N	\N	EFO	1	EFO	autoimmune disease	CNS demyelinating autoimmune disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000870	"Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." []	566678	\N	\N	EFO	2	EFO	disease	CNS demyelinating autoimmune disease
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000870	"Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." []	566679	\N	\N	EFO	2	EFO	immune system disease	CNS demyelinating autoimmune disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000870	"Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." []	2030371	\N	\N	EFO	4	EFO	disposition	CNS demyelinating autoimmune disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000870	"Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." []	1148093	\N	\N	EFO	3	EFO	disease	CNS demyelinating autoimmune disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000870	"Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." []	3000057	\N	\N	EFO	5	EFO	material property	CNS demyelinating autoimmune disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000870	"Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." []	4133066	\N	\N	EFO	6	EFO	experimental factor	CNS demyelinating autoimmune disease
EFO:1000871	\N	\N	"Functional obstruction of the COLON leading to MEGACOLON in the absence of obvious COLONIC DISEASES or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome." []	EFO:1000871	"Functional obstruction of the COLON leading to MEGACOLON in the absence of obvious COLONIC DISEASES or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome." []	70458	\N	\N	EFO	0	EFO	colonic pseudo-obstruction	colonic pseudo-obstruction
EFO:1000988	EFO:1000871	\N	"A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM." []	EFO:1000871	"Functional obstruction of the COLON leading to MEGACOLON in the absence of obvious COLONIC DISEASES or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome." []	212933	\N	\N	EFO	1	EFO	intestinal pseudo-obstruction	colonic pseudo-obstruction
EFO:1000872	\N	\N	"Infections with bacteria of the family BACTEROIDACEAE." []	EFO:1000872	"Infections with bacteria of the family BACTEROIDACEAE." []	70459	\N	\N	EFO	0	EFO	commensal Bacteroidaceae infectious disease	commensal Bacteroidaceae infectious disease
EFO:0000771	EFO:1000872	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000872	"Infections with bacteria of the family BACTEROIDACEAE." []	212934	\N	\N	EFO	1	EFO	bacterial disease	commensal Bacteroidaceae infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000872	"Infections with bacteria of the family BACTEROIDACEAE." []	566680	\N	\N	EFO	2	EFO	infectious disease	commensal Bacteroidaceae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000872	"Infections with bacteria of the family BACTEROIDACEAE." []	1148094	\N	\N	EFO	3	EFO	disease	commensal Bacteroidaceae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000872	"Infections with bacteria of the family BACTEROIDACEAE." []	2030372	\N	\N	EFO	4	EFO	disposition	commensal Bacteroidaceae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000872	"Infections with bacteria of the family BACTEROIDACEAE." []	3181053	\N	\N	EFO	5	EFO	material property	commensal Bacteroidaceae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000872	"Infections with bacteria of the family BACTEROIDACEAE." []	4389564	\N	\N	EFO	6	EFO	experimental factor	commensal Bacteroidaceae infectious disease
EFO:1000873	\N	\N	"Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." []	EFO:1000873	"Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." []	70460	\N	\N	EFO	0	EFO	commensal Bifidobacteriales infectious disease	commensal Bifidobacteriales infectious disease
EFO:0000771	EFO:1000873	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000873	"Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." []	212935	\N	\N	EFO	1	EFO	bacterial disease	commensal Bifidobacteriales infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000873	"Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." []	566681	\N	\N	EFO	2	EFO	infectious disease	commensal Bifidobacteriales infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000873	"Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." []	1148095	\N	\N	EFO	3	EFO	disease	commensal Bifidobacteriales infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000873	"Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." []	2030373	\N	\N	EFO	4	EFO	disposition	commensal Bifidobacteriales infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000873	"Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." []	3181054	\N	\N	EFO	5	EFO	material property	commensal Bifidobacteriales infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000873	"Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." []	4389565	\N	\N	EFO	6	EFO	experimental factor	commensal Bifidobacteriales infectious disease
EFO:1000874	\N	\N	"Infections with bacteria of the genus CLOSTRIDIUM." []	EFO:1000874	"Infections with bacteria of the genus CLOSTRIDIUM." []	70461	\N	\N	EFO	0	EFO	commensal Clostridium infectious disease	commensal Clostridium infectious disease
EFO:0000771	EFO:1000874	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000874	"Infections with bacteria of the genus CLOSTRIDIUM." []	212936	\N	\N	EFO	1	EFO	bacterial disease	commensal Clostridium infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000874	"Infections with bacteria of the genus CLOSTRIDIUM." []	566682	\N	\N	EFO	2	EFO	infectious disease	commensal Clostridium infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000874	"Infections with bacteria of the genus CLOSTRIDIUM." []	1148096	\N	\N	EFO	3	EFO	disease	commensal Clostridium infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000874	"Infections with bacteria of the genus CLOSTRIDIUM." []	2030374	\N	\N	EFO	4	EFO	disposition	commensal Clostridium infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000874	"Infections with bacteria of the genus CLOSTRIDIUM." []	3181055	\N	\N	EFO	5	EFO	material property	commensal Clostridium infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000874	"Infections with bacteria of the genus CLOSTRIDIUM." []	4389566	\N	\N	EFO	6	EFO	experimental factor	commensal Clostridium infectious disease
EFO:1000875	\N	\N	"Infections with bacteria of the family Desulfovibrionaceae." []	EFO:1000875	"Infections with bacteria of the family Desulfovibrionaceae." []	70462	\N	\N	EFO	0	EFO	commensal Desulfovibrionaceae infectious disease	commensal Desulfovibrionaceae infectious disease
EFO:0000771	EFO:1000875	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000875	"Infections with bacteria of the family Desulfovibrionaceae." []	212937	\N	\N	EFO	1	EFO	bacterial disease	commensal Desulfovibrionaceae infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000875	"Infections with bacteria of the family Desulfovibrionaceae." []	566683	\N	\N	EFO	2	EFO	infectious disease	commensal Desulfovibrionaceae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000875	"Infections with bacteria of the family Desulfovibrionaceae." []	1148097	\N	\N	EFO	3	EFO	disease	commensal Desulfovibrionaceae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000875	"Infections with bacteria of the family Desulfovibrionaceae." []	2030375	\N	\N	EFO	4	EFO	disposition	commensal Desulfovibrionaceae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000875	"Infections with bacteria of the family Desulfovibrionaceae." []	3181056	\N	\N	EFO	5	EFO	material property	commensal Desulfovibrionaceae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000875	"Infections with bacteria of the family Desulfovibrionaceae." []	4389567	\N	\N	EFO	6	EFO	experimental factor	commensal Desulfovibrionaceae infectious disease
EFO:1000876	\N	\N	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	70463	\N	\N	EFO	0	EFO	common bile duct neoplasm	common bile duct neoplasm
EFO:0003891	EFO:1000876	\N	"Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	212938	\N	\N	EFO	1	EFO	biliary tract neoplasm	common bile duct neoplasm
EFO:1001513	EFO:0003891	\N	"Tumors or cancers of the LIVER." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	566684	\N	\N	EFO	2	EFO	liver neoplasm	common bile duct neoplasm
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	1148098	\N	\N	EFO	3	EFO	liver disease	common bile duct neoplasm
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	1148099	\N	\N	EFO	3	EFO	endocrine neoplasm	common bile duct neoplasm
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	2030376	\N	\N	EFO	4	EFO	digestive system disease	common bile duct neoplasm
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	2030377	\N	\N	EFO	4	EFO	endocrine system disease	common bile duct neoplasm
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	2030378	\N	\N	EFO	4	EFO	neoplasm	common bile duct neoplasm
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	2030379	\N	\N	EFO	4	EFO	endocrine system disease	common bile duct neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	3181057	\N	\N	EFO	5	EFO	disease	common bile duct neoplasm
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	3181058	\N	\N	EFO	5	EFO	disease	common bile duct neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	3181059	\N	\N	EFO	5	EFO	disease	common bile duct neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	4389568	\N	\N	EFO	6	EFO	disposition	common bile duct neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	5409357	\N	\N	EFO	7	EFO	material property	common bile duct neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000876	"Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." []	6147630	\N	\N	EFO	8	EFO	experimental factor	common bile duct neoplasm
EFO:1000877	\N	\N	"A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" []	EFO:1000877	"A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" []	70464	\N	\N	EFO	0	EFO	complex partial epilepsy	complex partial epilepsy
EFO:0004263	EFO:1000877	\N	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	EFO:1000877	"A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" []	212939	\N	\N	EFO	1	EFO	partial epilepsy	complex partial epilepsy
EFO:0000474	EFO:0004263	\N	"A disorder characterized by recurrent seizures" []	EFO:1000877	"A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" []	566685	\N	\N	EFO	2	EFO	epilepsy	complex partial epilepsy
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:1000877	"A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" []	1148100	\N	\N	EFO	3	EFO	brain disease	complex partial epilepsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000877	"A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" []	2030380	\N	\N	EFO	4	EFO	nervous system disease	complex partial epilepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000877	"A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" []	3181060	\N	\N	EFO	5	EFO	disease	complex partial epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000877	"A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" []	4389569	\N	\N	EFO	6	EFO	disposition	complex partial epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000877	"A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" []	5409358	\N	\N	EFO	7	EFO	material property	complex partial epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000877	"A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" []	6147631	\N	\N	EFO	8	EFO	experimental factor	complex partial epilepsy
EFO:1000878	\N	\N	"Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." []	EFO:1000878	"Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." []	70465	\N	\N	EFO	0	EFO	constrictive pericarditis	constrictive pericarditis
EFO:0007427	EFO:1000878	\N	"A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." []	EFO:1000878	"Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." []	212940	\N	\N	EFO	1	EFO	pericarditis	constrictive pericarditis
EFO:0003777	EFO:0007427	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000878	"Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." []	566686	\N	\N	EFO	2	EFO	heart disease	constrictive pericarditis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000878	"Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." []	1148101	\N	\N	EFO	3	EFO	cardiovascular disease	constrictive pericarditis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000878	"Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." []	2030381	\N	\N	EFO	4	EFO	disease	constrictive pericarditis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000878	"Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." []	3181061	\N	\N	EFO	5	EFO	disposition	constrictive pericarditis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000878	"Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." []	4389570	\N	\N	EFO	6	EFO	material property	constrictive pericarditis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000878	"Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." []	5409359	\N	\N	EFO	7	EFO	experimental factor	constrictive pericarditis
EFO:1000879	\N	\N	"An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." []	EFO:1000879	"An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." []	70466	\N	\N	EFO	0	EFO	corneal edema	corneal edema
EFO:0000524	EFO:1000879	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000879	"An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." []	212941	\N	\N	EFO	1	EFO	head disease	corneal edema
EFO:0003966	EFO:1000879	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000879	"An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." []	212942	\N	\N	EFO	1	EFO	eye disease	corneal edema
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000879	"An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." []	566687	\N	\N	EFO	2	EFO	disease	corneal edema
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000879	"An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." []	566688	\N	\N	EFO	2	EFO	disease	corneal edema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000879	"An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." []	1148102	\N	\N	EFO	3	EFO	disposition	corneal edema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000879	"An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." []	2030382	\N	\N	EFO	4	EFO	material property	corneal edema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000879	"An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." []	3181062	\N	\N	EFO	5	EFO	experimental factor	corneal edema
EFO:1000880	\N	\N	"New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." []	EFO:1000880	"New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." []	70467	\N	\N	EFO	0	EFO	corneal neovascularization	corneal neovascularization
EFO:0000524	EFO:1000880	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000880	"New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." []	212943	\N	\N	EFO	1	EFO	head disease	corneal neovascularization
EFO:0003966	EFO:1000880	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000880	"New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." []	212944	\N	\N	EFO	1	EFO	eye disease	corneal neovascularization
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000880	"New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." []	566689	\N	\N	EFO	2	EFO	disease	corneal neovascularization
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000880	"New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." []	566690	\N	\N	EFO	2	EFO	disease	corneal neovascularization
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000880	"New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." []	1148103	\N	\N	EFO	3	EFO	disposition	corneal neovascularization
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000880	"New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." []	2030383	\N	\N	EFO	4	EFO	material property	corneal neovascularization
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000880	"New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." []	3181063	\N	\N	EFO	5	EFO	experimental factor	corneal neovascularization
EFO:1000881	\N	\N	"Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE." []	EFO:1000881	"Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE." []	70468	\N	\N	EFO	0	EFO	coronary aneurysm	coronary aneurysm
EFO:0000319	EFO:1000881	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000881	"Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE." []	212945	\N	\N	EFO	1	EFO	cardiovascular disease	coronary aneurysm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000881	"Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE." []	566691	\N	\N	EFO	2	EFO	disease	coronary aneurysm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000881	"Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE." []	1148104	\N	\N	EFO	3	EFO	disposition	coronary aneurysm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000881	"Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE." []	2030384	\N	\N	EFO	4	EFO	material property	coronary aneurysm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000881	"Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE." []	3181064	\N	\N	EFO	5	EFO	experimental factor	coronary aneurysm
EFO:1000882	\N	\N	"Narrowing or constriction of a coronary artery." []	EFO:1000882	"Narrowing or constriction of a coronary artery." []	70469	\N	\N	EFO	0	EFO	coronary stenosis	coronary stenosis
EFO:0000378	EFO:1000882	\N	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	EFO:1000882	"Narrowing or constriction of a coronary artery." []	212946	\N	\N	EFO	1	EFO	coronary artery disease	coronary stenosis
EFO:0001645	EFO:0000378	\N	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	EFO:1000882	"Narrowing or constriction of a coronary artery." []	566692	\N	\N	EFO	2	EFO	coronary heart disease	coronary stenosis
EFO:0003777	EFO:0001645	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000882	"Narrowing or constriction of a coronary artery." []	1148105	\N	\N	EFO	3	EFO	heart disease	coronary stenosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000882	"Narrowing or constriction of a coronary artery." []	2030385	\N	\N	EFO	4	EFO	cardiovascular disease	coronary stenosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000882	"Narrowing or constriction of a coronary artery." []	3181065	\N	\N	EFO	5	EFO	disease	coronary stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000882	"Narrowing or constriction of a coronary artery." []	4389571	\N	\N	EFO	6	EFO	disposition	coronary stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000882	"Narrowing or constriction of a coronary artery." []	5409360	\N	\N	EFO	7	EFO	material property	coronary stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000882	"Narrowing or constriction of a coronary artery." []	6147632	\N	\N	EFO	8	EFO	experimental factor	coronary stenosis
EFO:1000883	\N	\N	"Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." []	EFO:1000883	"Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." []	70470	\N	\N	EFO	0	EFO	coronary thrombosis	coronary thrombosis
EFO:0000378	EFO:1000883	\N	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	EFO:1000883	"Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." []	212947	\N	\N	EFO	1	EFO	coronary artery disease	coronary thrombosis
EFO:0001645	EFO:0000378	\N	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	EFO:1000883	"Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." []	566693	\N	\N	EFO	2	EFO	coronary heart disease	coronary thrombosis
EFO:0003777	EFO:0001645	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000883	"Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." []	1148106	\N	\N	EFO	3	EFO	heart disease	coronary thrombosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000883	"Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." []	2030386	\N	\N	EFO	4	EFO	cardiovascular disease	coronary thrombosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000883	"Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." []	3181066	\N	\N	EFO	5	EFO	disease	coronary thrombosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000883	"Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." []	4389572	\N	\N	EFO	6	EFO	disposition	coronary thrombosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000883	"Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." []	5409361	\N	\N	EFO	7	EFO	material property	coronary thrombosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000883	"Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." []	6147633	\N	\N	EFO	8	EFO	experimental factor	coronary thrombosis
EFO:1000884	\N	\N	"Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." []	EFO:1000884	"Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." []	70471	\N	\N	EFO	0	EFO	cranial nerve malignant neoplasm	cranial nerve malignant neoplasm
EFO:0003833	EFO:1000884	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000884	"Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." []	212948	\N	\N	EFO	1	EFO	brain neoplasm	cranial nerve malignant neoplasm
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000884	"Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." []	566694	\N	\N	EFO	2	EFO	neoplasm	cranial nerve malignant neoplasm
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000884	"Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." []	566695	\N	\N	EFO	2	EFO	brain disease	cranial nerve malignant neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000884	"Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." []	1148107	\N	\N	EFO	3	EFO	disease	cranial nerve malignant neoplasm
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000884	"Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." []	1148108	\N	\N	EFO	3	EFO	nervous system disease	cranial nerve malignant neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000884	"Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." []	3181068	\N	\N	EFO	5	EFO	disposition	cranial nerve malignant neoplasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000884	"Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." []	2030388	\N	\N	EFO	4	EFO	disease	cranial nerve malignant neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000884	"Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." []	4133067	\N	\N	EFO	6	EFO	material property	cranial nerve malignant neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000884	"Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." []	5181314	\N	\N	EFO	7	EFO	experimental factor	cranial nerve malignant neoplasm
EFO:1000885	\N	\N	"A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)" []	EFO:1000885	"A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)" []	70472	\N	\N	EFO	0	EFO	cutaneous fibrous histiocytoma	cutaneous fibrous histiocytoma
EFO:0005561	EFO:1000885	\N	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	EFO:1000885	"A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)" []	212949	\N	\N	EFO	1	EFO	histiocytoma	cutaneous fibrous histiocytoma
EFO:0000691	EFO:0005561	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000885	"A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)" []	566696	\N	\N	EFO	2	EFO	sarcoma	cutaneous fibrous histiocytoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000885	"A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)" []	1148109	\N	\N	EFO	3	EFO	cancer	cutaneous fibrous histiocytoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000885	"A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)" []	2030389	\N	\N	EFO	4	EFO	neoplasm	cutaneous fibrous histiocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000885	"A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)" []	3181069	\N	\N	EFO	5	EFO	disease	cutaneous fibrous histiocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000885	"A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)" []	4389574	\N	\N	EFO	6	EFO	disposition	cutaneous fibrous histiocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000885	"A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)" []	5409362	\N	\N	EFO	7	EFO	material property	cutaneous fibrous histiocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000885	"A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)" []	6147634	\N	\N	EFO	8	EFO	experimental factor	cutaneous fibrous histiocytoma
EFO:1000886	\N	\N	"Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." []	EFO:1000886	"Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." []	70473	\N	\N	EFO	0	EFO	cutaneous mastocytosis	cutaneous mastocytosis
EFO:0004198	EFO:1000886	\N	"Tumors or cancer of the SKIN." []	EFO:1000886	"Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." []	212950	\N	\N	EFO	1	EFO	skin neoplasm	cutaneous mastocytosis
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000886	"Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." []	566697	\N	\N	EFO	2	EFO	neoplasm	cutaneous mastocytosis
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000886	"Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." []	566698	\N	\N	EFO	2	EFO	skin disease	cutaneous mastocytosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000886	"Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." []	1148110	\N	\N	EFO	3	EFO	disease	cutaneous mastocytosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000886	"Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." []	1148111	\N	\N	EFO	3	EFO	disease	cutaneous mastocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000886	"Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." []	2030390	\N	\N	EFO	4	EFO	disposition	cutaneous mastocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000886	"Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." []	3181070	\N	\N	EFO	5	EFO	material property	cutaneous mastocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000886	"Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." []	4389575	\N	\N	EFO	6	EFO	experimental factor	cutaneous mastocytosis
EFO:1000887	\N	\N	"Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" []	EFO:1000887	"Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" []	70474	\N	\N	EFO	0	EFO	cutaneous syphilis	cutaneous syphilis
EFO:0000701	EFO:1000887	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000887	"Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" []	212951	\N	\N	EFO	1	EFO	skin disease	cutaneous syphilis
EFO:0007504	EFO:1000887	\N	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	EFO:1000887	"Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" []	212952	\N	\N	EFO	1	EFO	syphilis	cutaneous syphilis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000887	"Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" []	566699	\N	\N	EFO	2	EFO	disease	cutaneous syphilis
EFO:0000771	EFO:0007504	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000887	"Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" []	566700	\N	\N	EFO	2	EFO	bacterial disease	cutaneous syphilis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000887	"Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" []	3181072	\N	\N	EFO	5	EFO	disposition	cutaneous syphilis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000887	"Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" []	1148113	\N	\N	EFO	3	EFO	infectious disease	cutaneous syphilis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000887	"Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" []	4066809	\N	\N	EFO	6	EFO	material property	cutaneous syphilis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000887	"Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" []	2030392	\N	\N	EFO	4	EFO	disease	cutaneous syphilis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000887	"Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" []	5059498	\N	\N	EFO	7	EFO	experimental factor	cutaneous syphilis
EFO:1000888	\N	\N	"A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin." []	EFO:1000888	"A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin." []	70475	\N	\N	EFO	0	EFO	cystic lymphangioma	cystic lymphangioma
EFO:0000616	EFO:1000888	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000888	"A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin." []	212953	\N	\N	EFO	1	EFO	neoplasm	cystic lymphangioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000888	"A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin." []	566701	\N	\N	EFO	2	EFO	disease	cystic lymphangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000888	"A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin." []	1148114	\N	\N	EFO	3	EFO	disposition	cystic lymphangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000888	"A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin." []	2030393	\N	\N	EFO	4	EFO	material property	cystic lymphangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000888	"A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin." []	3181073	\N	\N	EFO	5	EFO	experimental factor	cystic lymphangioma
EFO:1000889	\N	\N	"Neoplasms containing cyst-like formations or producing mucin or serum." []	EFO:1000889	"Neoplasms containing cyst-like formations or producing mucin or serum." []	70476	\N	\N	EFO	0	EFO	cystic, mucinous, and serous neoplasm	cystic, mucinous, and serous neoplasm
EFO:0000616	EFO:1000889	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000889	"Neoplasms containing cyst-like formations or producing mucin or serum." []	212954	\N	\N	EFO	1	EFO	neoplasm	cystic, mucinous, and serous neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000889	"Neoplasms containing cyst-like formations or producing mucin or serum." []	566702	\N	\N	EFO	2	EFO	disease	cystic, mucinous, and serous neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000889	"Neoplasms containing cyst-like formations or producing mucin or serum." []	1148115	\N	\N	EFO	3	EFO	disposition	cystic, mucinous, and serous neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000889	"Neoplasms containing cyst-like formations or producing mucin or serum." []	2030394	\N	\N	EFO	4	EFO	material property	cystic, mucinous, and serous neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000889	"Neoplasms containing cyst-like formations or producing mucin or serum." []	3181074	\N	\N	EFO	5	EFO	experimental factor	cystic, mucinous, and serous neoplasm
EFO:1000890	\N	\N	"A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)" []	EFO:1000890	"A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)" []	70477	\N	\N	EFO	0	EFO	Dandy-Walker syndrome	Dandy-Walker syndrome
EFO:0005774	EFO:1000890	\N	"A disease affecting the brain or part of the brain." []	EFO:1000890	"A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)" []	212955	\N	\N	EFO	1	EFO	brain disease	Dandy-Walker syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000890	"A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)" []	566703	\N	\N	EFO	2	EFO	nervous system disease	Dandy-Walker syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000890	"A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)" []	1148116	\N	\N	EFO	3	EFO	disease	Dandy-Walker syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000890	"A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)" []	2030395	\N	\N	EFO	4	EFO	disposition	Dandy-Walker syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000890	"A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)" []	3181075	\N	\N	EFO	5	EFO	material property	Dandy-Walker syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000890	"A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)" []	4389576	\N	\N	EFO	6	EFO	experimental factor	Dandy-Walker syndrome
EFO:1000891	\N	\N	"Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS." []	EFO:1000891	"Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS." []	70478	\N	\N	EFO	0	EFO	De Quervain disease	De Quervain disease
EFO:0004260	EFO:1000891	\N	"Diseases of BONES." []	EFO:1000891	"Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS." []	212956	\N	\N	EFO	1	EFO	bone disease	De Quervain disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1000891	"Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS." []	566704	\N	\N	EFO	2	EFO	skeletal system disease	De Quervain disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000891	"Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS." []	1148117	\N	\N	EFO	3	EFO	disease	De Quervain disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000891	"Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS." []	2030396	\N	\N	EFO	4	EFO	disposition	De Quervain disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000891	"Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS." []	3181076	\N	\N	EFO	5	EFO	material property	De Quervain disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000891	"Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS." []	4389577	\N	\N	EFO	6	EFO	experimental factor	De Quervain disease
EFO:1000892	\N	\N	"A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)" []	EFO:1000892	"A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)" []	70479	\N	\N	EFO	0	EFO	dental fluorosis	dental fluorosis
EFO:1001216	EFO:1000892	\N	"Any disease of the teeth" []	EFO:1000892	"A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)" []	212957	\N	\N	EFO	1	EFO	tooth disease	dental fluorosis
EFO:1001047	EFO:1001216	\N	"Any disease of the oral cavity" []	EFO:1000892	"A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)" []	566705	\N	\N	EFO	2	EFO	mouth disease	dental fluorosis
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000892	"A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)" []	1148118	\N	\N	EFO	3	EFO	digestive system disease	dental fluorosis
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000892	"A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)" []	1148119	\N	\N	EFO	3	EFO	head disease	dental fluorosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000892	"A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)" []	2030397	\N	\N	EFO	4	EFO	disease	dental fluorosis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000892	"A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)" []	2030398	\N	\N	EFO	4	EFO	disease	dental fluorosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000892	"A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)" []	3181077	\N	\N	EFO	5	EFO	disposition	dental fluorosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000892	"A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)" []	4389578	\N	\N	EFO	6	EFO	material property	dental fluorosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000892	"A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)" []	5409363	\N	\N	EFO	7	EFO	experimental factor	dental fluorosis
EFO:1000893	\N	\N	"Inflammation of the mouth due to denture irritation." []	EFO:1000893	"Inflammation of the mouth due to denture irritation." []	70480	\N	\N	EFO	0	EFO	denture stomatitis	denture stomatitis
EFO:0000405	EFO:1000893	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000893	"Inflammation of the mouth due to denture irritation." []	212958	\N	\N	EFO	1	EFO	digestive system disease	denture stomatitis
EFO:0000524	EFO:1000893	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000893	"Inflammation of the mouth due to denture irritation." []	212959	\N	\N	EFO	1	EFO	head disease	denture stomatitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000893	"Inflammation of the mouth due to denture irritation." []	566706	\N	\N	EFO	2	EFO	disease	denture stomatitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000893	"Inflammation of the mouth due to denture irritation." []	566707	\N	\N	EFO	2	EFO	disease	denture stomatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000893	"Inflammation of the mouth due to denture irritation." []	1148120	\N	\N	EFO	3	EFO	disposition	denture stomatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000893	"Inflammation of the mouth due to denture irritation." []	2030399	\N	\N	EFO	4	EFO	material property	denture stomatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000893	"Inflammation of the mouth due to denture irritation." []	3181078	\N	\N	EFO	5	EFO	experimental factor	denture stomatitis
EFO:1000894	\N	\N	"A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)" []	EFO:1000894	"A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)" []	70481	\N	\N	EFO	0	EFO	dermoid cyst	dermoid cyst
EFO:0004198	EFO:1000894	\N	"Tumors or cancer of the SKIN." []	EFO:1000894	"A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)" []	212960	\N	\N	EFO	1	EFO	skin neoplasm	dermoid cyst
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000894	"A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)" []	566708	\N	\N	EFO	2	EFO	neoplasm	dermoid cyst
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000894	"A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)" []	566709	\N	\N	EFO	2	EFO	skin disease	dermoid cyst
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000894	"A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)" []	1148121	\N	\N	EFO	3	EFO	disease	dermoid cyst
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000894	"A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)" []	1148122	\N	\N	EFO	3	EFO	disease	dermoid cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000894	"A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)" []	2030400	\N	\N	EFO	4	EFO	disposition	dermoid cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000894	"A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)" []	3181079	\N	\N	EFO	5	EFO	material property	dermoid cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000894	"A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)" []	4389579	\N	\N	EFO	6	EFO	experimental factor	dermoid cyst
EFO:1000895	\N	\N	"A rare, aggressive soft tissue sarcoma that primarily affects adolescents and young adults. It is most commonly found in the abdomen." []	EFO:1000895	"A rare, aggressive soft tissue sarcoma that primarily affects adolescents and young adults. It is most commonly found in the abdomen." []	70482	\N	\N	EFO	0	EFO	desmoplastic small round cell tumor	desmoplastic small round cell tumor
EFO:0000616	EFO:1000895	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000895	"A rare, aggressive soft tissue sarcoma that primarily affects adolescents and young adults. It is most commonly found in the abdomen." []	212961	\N	\N	EFO	1	EFO	neoplasm	desmoplastic small round cell tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000895	"A rare, aggressive soft tissue sarcoma that primarily affects adolescents and young adults. It is most commonly found in the abdomen." []	566710	\N	\N	EFO	2	EFO	disease	desmoplastic small round cell tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000895	"A rare, aggressive soft tissue sarcoma that primarily affects adolescents and young adults. It is most commonly found in the abdomen." []	1148123	\N	\N	EFO	3	EFO	disposition	desmoplastic small round cell tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000895	"A rare, aggressive soft tissue sarcoma that primarily affects adolescents and young adults. It is most commonly found in the abdomen." []	2030401	\N	\N	EFO	4	EFO	material property	desmoplastic small round cell tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000895	"A rare, aggressive soft tissue sarcoma that primarily affects adolescents and young adults. It is most commonly found in the abdomen." []	3181080	\N	\N	EFO	5	EFO	experimental factor	desmoplastic small round cell tumor
EFO:1000896	\N	\N	"VASCULAR DISEASES that are associated with DIABETES MELLITUS." []	EFO:1000896	"VASCULAR DISEASES that are associated with DIABETES MELLITUS." []	70483	\N	\N	EFO	0	EFO	diabetic angiopathy	diabetic angiopathy
EFO:0003875	EFO:1000896	\N	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	EFO:1000896	"VASCULAR DISEASES that are associated with DIABETES MELLITUS." []	212962	\N	\N	EFO	1	EFO	peripheral vascular disease	diabetic angiopathy
EFO:0004264	EFO:0003875	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000896	"VASCULAR DISEASES that are associated with DIABETES MELLITUS." []	566711	\N	\N	EFO	2	EFO	vascular disease	diabetic angiopathy
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000896	"VASCULAR DISEASES that are associated with DIABETES MELLITUS." []	1148124	\N	\N	EFO	3	EFO	cardiovascular disease	diabetic angiopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000896	"VASCULAR DISEASES that are associated with DIABETES MELLITUS." []	2030402	\N	\N	EFO	4	EFO	disease	diabetic angiopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000896	"VASCULAR DISEASES that are associated with DIABETES MELLITUS." []	3181081	\N	\N	EFO	5	EFO	disposition	diabetic angiopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000896	"VASCULAR DISEASES that are associated with DIABETES MELLITUS." []	4389580	\N	\N	EFO	6	EFO	material property	diabetic angiopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000896	"VASCULAR DISEASES that are associated with DIABETES MELLITUS." []	5409364	\N	\N	EFO	7	EFO	experimental factor	diabetic angiopathy
EFO:1000897	\N	\N	"A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA." []	EFO:1000897	"A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA." []	70484	\N	\N	EFO	0	EFO	diabetic ketoacidosis	diabetic ketoacidosis
EFO:0000400	EFO:1000897	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	EFO:1000897	"A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA." []	212963	\N	\N	EFO	1	EFO	diabetes mellitus	diabetic ketoacidosis
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000897	"A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA." []	566712	\N	\N	EFO	2	EFO	metabolic disease	diabetic ketoacidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000897	"A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA." []	1148125	\N	\N	EFO	3	EFO	disease	diabetic ketoacidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000897	"A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA." []	2030403	\N	\N	EFO	4	EFO	disposition	diabetic ketoacidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000897	"A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA." []	3181082	\N	\N	EFO	5	EFO	material property	diabetic ketoacidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000897	"A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA." []	4389581	\N	\N	EFO	6	EFO	experimental factor	diabetic ketoacidosis
EFO:1000898	\N	\N	"A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG." []	EFO:1000898	"A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG." []	70485	\N	\N	EFO	0	EFO	diaphragmatic eventration	diaphragmatic eventration
EFO:0000508	EFO:1000898	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000898	"A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG." []	212964	\N	\N	EFO	1	EFO	genetic disorder	diaphragmatic eventration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000898	"A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG." []	566713	\N	\N	EFO	2	EFO	disease	diaphragmatic eventration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000898	"A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG." []	1148126	\N	\N	EFO	3	EFO	disposition	diaphragmatic eventration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000898	"A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG." []	2030404	\N	\N	EFO	4	EFO	material property	diaphragmatic eventration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000898	"A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG." []	3181083	\N	\N	EFO	5	EFO	experimental factor	diaphragmatic eventration
EFO:1000899	\N	\N	"Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." []	EFO:1000899	"Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." []	70486	\N	\N	EFO	0	EFO	diastolic heart failure	diastolic heart failure
EFO:0000373	EFO:1000899	\N	"Heart failure involving the RIGHT VENTRICLE." []	EFO:1000899	"Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." []	212965	\N	\N	EFO	1	EFO	congestive heart failure	diastolic heart failure
EFO:0003144	EFO:0000373	\N	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	EFO:1000899	"Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." []	566714	\N	\N	EFO	2	EFO	heart failure	diastolic heart failure
EFO:0003777	EFO:0003144	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000899	"Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." []	1148127	\N	\N	EFO	3	EFO	heart disease	diastolic heart failure
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000899	"Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." []	2030405	\N	\N	EFO	4	EFO	cardiovascular disease	diastolic heart failure
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000899	"Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." []	3181084	\N	\N	EFO	5	EFO	disease	diastolic heart failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000899	"Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." []	4389582	\N	\N	EFO	6	EFO	disposition	diastolic heart failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000899	"Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." []	5409365	\N	\N	EFO	7	EFO	material property	diastolic heart failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000899	"Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." []	6147635	\N	\N	EFO	8	EFO	experimental factor	diastolic heart failure
EFO:1000900	\N	\N	"Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." []	EFO:1000900	"Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." []	70487	\N	\N	EFO	0	EFO	discitis	discitis
EFO:0005802	EFO:1000900	\N	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	EFO:1000900	"Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." []	212966	\N	\N	EFO	1	EFO	cartilage disease	discitis
EFO:0002461	EFO:0005802	\N	"Any disease which affects part of the skeletal system." []	EFO:1000900	"Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." []	566715	\N	\N	EFO	2	EFO	skeletal system disease	discitis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000900	"Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." []	1148128	\N	\N	EFO	3	EFO	disease	discitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000900	"Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." []	2030406	\N	\N	EFO	4	EFO	disposition	discitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000900	"Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." []	3181085	\N	\N	EFO	5	EFO	material property	discitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000900	"Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." []	4389583	\N	\N	EFO	6	EFO	experimental factor	discitis
EFO:1000901	\N	\N	"A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	EFO:1000901	"A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	70488	\N	\N	EFO	0	EFO	discrete subaortic stenosis	discrete subaortic stenosis
EFO:1001199	EFO:1000901	\N	"A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	EFO:1000901	"A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	212967	\N	\N	EFO	1	EFO	subvalvular aortic stenosis	discrete subaortic stenosis
EFO:0000266	EFO:1001199	\N	"Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." []	EFO:1000901	"A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	566716	\N	\N	EFO	2	EFO	aortic stenosis	discrete subaortic stenosis
EFO:0005775	EFO:0000266	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:1000901	"A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	1148129	\N	\N	EFO	3	EFO	aortic disease	discrete subaortic stenosis
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000901	"A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	2030407	\N	\N	EFO	4	EFO	vascular disease	discrete subaortic stenosis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000901	"A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	3181086	\N	\N	EFO	5	EFO	cardiovascular disease	discrete subaortic stenosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000901	"A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	4389584	\N	\N	EFO	6	EFO	disease	discrete subaortic stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000901	"A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	5409366	\N	\N	EFO	7	EFO	disposition	discrete subaortic stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000901	"A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	6147636	\N	\N	EFO	8	EFO	material property	discrete subaortic stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000901	"A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	6631876	\N	\N	EFO	9	EFO	experimental factor	discrete subaortic stenosis
EFO:1000902	\N	\N	"Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." []	EFO:1000902	"Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." []	70489	\N	\N	EFO	0	EFO	drug psychosis	drug psychosis
EFO:0005407	EFO:1000902	\N	"A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." []	EFO:1000902	"Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." []	212968	\N	\N	EFO	1	EFO	psychosis	drug psychosis
EFO:0000677	EFO:0005407	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1000902	"Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." []	566717	\N	\N	EFO	2	EFO	mental or behavioural disorder	drug psychosis
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1000902	"Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." []	1148130	\N	\N	EFO	3	EFO	brain disease	drug psychosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000902	"Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." []	2030408	\N	\N	EFO	4	EFO	nervous system disease	drug psychosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000902	"Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." []	3181087	\N	\N	EFO	5	EFO	disease	drug psychosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000902	"Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." []	4389585	\N	\N	EFO	6	EFO	disposition	drug psychosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000902	"Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." []	5409367	\N	\N	EFO	7	EFO	material property	drug psychosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000902	"Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." []	6147637	\N	\N	EFO	8	EFO	experimental factor	drug psychosis
EFO:1000903	\N	\N	"A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move." []	EFO:1000903	"A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move." []	70490	\N	\N	EFO	0	EFO	drug-induced akathisia	drug-induced akathisia
EFO:0000618	EFO:1000903	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000903	"A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move." []	212969	\N	\N	EFO	1	EFO	nervous system disease	drug-induced akathisia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000903	"A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move." []	566718	\N	\N	EFO	2	EFO	disease	drug-induced akathisia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000903	"A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move." []	1148131	\N	\N	EFO	3	EFO	disposition	drug-induced akathisia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000903	"A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move." []	2030409	\N	\N	EFO	4	EFO	material property	drug-induced akathisia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000903	"A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move." []	3181088	\N	\N	EFO	5	EFO	experimental factor	drug-induced akathisia
EFO:1000904	\N	\N	"Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)" []	EFO:1000904	"Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)" []	70491	\N	\N	EFO	0	EFO	drug-Induced dyskinesia	drug-Induced dyskinesia
EFO:0000618	EFO:1000904	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000904	"Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)" []	212970	\N	\N	EFO	1	EFO	nervous system disease	drug-Induced dyskinesia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000904	"Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)" []	566719	\N	\N	EFO	2	EFO	disease	drug-Induced dyskinesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000904	"Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)" []	1148132	\N	\N	EFO	3	EFO	disposition	drug-Induced dyskinesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000904	"Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)" []	2030410	\N	\N	EFO	4	EFO	material property	drug-Induced dyskinesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000904	"Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)" []	3181089	\N	\N	EFO	5	EFO	experimental factor	drug-Induced dyskinesia
EFO:1000905	\N	\N	"Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite." []	EFO:1000905	"Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite." []	70492	\N	\N	EFO	0	EFO	drug-induced hepatitis	drug-induced hepatitis
HP:0012115	\N	\N	"Inflammation of the liver." [HPO:probinson]	EFO:1000905	"Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite." []	194948	\N	\N	EFO	0	EFO	Hepatitis	drug-induced hepatitis
EFO:1000906	\N	\N	"Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur." []	EFO:1000906	"Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur." []	70493	\N	\N	EFO	0	EFO	dry eye syndrome	dry eye syndrome
EFO:0000524	EFO:1000906	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000906	"Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur." []	212971	\N	\N	EFO	1	EFO	head disease	dry eye syndrome
EFO:0003966	EFO:1000906	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000906	"Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur." []	212972	\N	\N	EFO	1	EFO	eye disease	dry eye syndrome
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000906	"Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur." []	566720	\N	\N	EFO	2	EFO	disease	dry eye syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000906	"Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur." []	566721	\N	\N	EFO	2	EFO	disease	dry eye syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000906	"Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur." []	1148133	\N	\N	EFO	3	EFO	disposition	dry eye syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000906	"Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur." []	2030411	\N	\N	EFO	4	EFO	material property	dry eye syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000906	"Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur." []	3181090	\N	\N	EFO	5	EFO	experimental factor	dry eye syndrome
EFO:1000907	\N	\N	"Tumors or cancer of the DUODENUM." []	EFO:1000907	"Tumors or cancer of the DUODENUM." []	70494	\N	\N	EFO	0	EFO	duodenal benign neoplasm	duodenal benign neoplasm
EFO:0000405	EFO:1000907	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000907	"Tumors or cancer of the DUODENUM." []	212973	\N	\N	EFO	1	EFO	digestive system disease	duodenal benign neoplasm
EFO:0002422	EFO:1000907	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000907	"Tumors or cancer of the DUODENUM." []	212974	\N	\N	EFO	1	EFO	benign neoplasm	duodenal benign neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000907	"Tumors or cancer of the DUODENUM." []	566722	\N	\N	EFO	2	EFO	disease	duodenal benign neoplasm
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000907	"Tumors or cancer of the DUODENUM." []	566723	\N	\N	EFO	2	EFO	neoplasm	duodenal benign neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000907	"Tumors or cancer of the DUODENUM." []	2030413	\N	\N	EFO	4	EFO	disposition	duodenal benign neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000907	"Tumors or cancer of the DUODENUM." []	1148135	\N	\N	EFO	3	EFO	disease	duodenal benign neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000907	"Tumors or cancer of the DUODENUM." []	3000058	\N	\N	EFO	5	EFO	material property	duodenal benign neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000907	"Tumors or cancer of the DUODENUM." []	4133068	\N	\N	EFO	6	EFO	experimental factor	duodenal benign neoplasm
EFO:1000908	\N	\N	"Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents." []	EFO:1000908	"Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents." []	70495	\N	\N	EFO	0	EFO	duodenal obstruction	duodenal obstruction
HP:0004796	\N	\N	"" []	EFO:1000908	"Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents." []	194949	\N	\N	EFO	0	EFO	Gastrointestinal obstruction	duodenal obstruction
EFO:1000909	\N	\N	"Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH." []	EFO:1000909	"Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH." []	70496	\N	\N	EFO	0	EFO	duodenogastric reflux	duodenogastric reflux
EFO:0003948	EFO:1000909	\N	"Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER." []	EFO:1000909	"Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH." []	212975	\N	\N	EFO	1	EFO	gastroesophageal reflux disease	duodenogastric reflux
EFO:0000405	EFO:0003948	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000909	"Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH." []	566724	\N	\N	EFO	2	EFO	digestive system disease	duodenogastric reflux
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000909	"Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH." []	1148136	\N	\N	EFO	3	EFO	disease	duodenogastric reflux
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000909	"Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH." []	2030414	\N	\N	EFO	4	EFO	disposition	duodenogastric reflux
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000909	"Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH." []	3181092	\N	\N	EFO	5	EFO	material property	duodenogastric reflux
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000909	"Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH." []	4389586	\N	\N	EFO	6	EFO	experimental factor	duodenogastric reflux
EFO:1000910	\N	\N	"Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE." []	EFO:1000910	"Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE." []	70497	\N	\N	EFO	0	EFO	dysplasia of cervix	dysplasia of cervix
EFO:0000512	EFO:1000910	\N	"any diease of the reproductive system" []	EFO:1000910	"Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE." []	212976	\N	\N	EFO	1	EFO	reproductive system disease	dysplasia of cervix
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000910	"Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE." []	566725	\N	\N	EFO	2	EFO	disease	dysplasia of cervix
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000910	"Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE." []	1148137	\N	\N	EFO	3	EFO	disposition	dysplasia of cervix
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000910	"Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE." []	2030415	\N	\N	EFO	4	EFO	material property	dysplasia of cervix
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000910	"Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE." []	3181093	\N	\N	EFO	5	EFO	experimental factor	dysplasia of cervix
EFO:1000911	\N	\N	"Slow or difficult OBSTETRIC LABOR or CHILDBIRTH." []	EFO:1000911	"Slow or difficult OBSTETRIC LABOR or CHILDBIRTH." []	70498	\N	\N	EFO	0	EFO	dystocia	dystocia
EFO:0000512	EFO:1000911	\N	"any diease of the reproductive system" []	EFO:1000911	"Slow or difficult OBSTETRIC LABOR or CHILDBIRTH." []	212977	\N	\N	EFO	1	EFO	reproductive system disease	dystocia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000911	"Slow or difficult OBSTETRIC LABOR or CHILDBIRTH." []	566726	\N	\N	EFO	2	EFO	disease	dystocia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000911	"Slow or difficult OBSTETRIC LABOR or CHILDBIRTH." []	1148138	\N	\N	EFO	3	EFO	disposition	dystocia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000911	"Slow or difficult OBSTETRIC LABOR or CHILDBIRTH." []	2030416	\N	\N	EFO	4	EFO	material property	dystocia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000911	"Slow or difficult OBSTETRIC LABOR or CHILDBIRTH." []	3181094	\N	\N	EFO	5	EFO	experimental factor	dystocia
EFO:1000912	\N	\N	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	EFO:1000912	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	70499	\N	\N	EFO	0	EFO	eccrine acrospiroma	eccrine acrospiroma
EFO:0005553	EFO:1000912	\N	"An cancer with eccrine differentiation arising from the sweat glands." []	EFO:1000912	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	212978	\N	\N	EFO	1	EFO	eccrine sweat gland cancer	eccrine acrospiroma
EFO:0000311	EFO:0005553	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000912	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	566727	\N	\N	EFO	2	EFO	cancer	eccrine acrospiroma
EFO:0004198	EFO:0005553	\N	"Tumors or cancer of the SKIN." []	EFO:1000912	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	566728	\N	\N	EFO	2	EFO	skin neoplasm	eccrine acrospiroma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000912	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	1148139	\N	\N	EFO	3	EFO	neoplasm	eccrine acrospiroma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000912	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	1148140	\N	\N	EFO	3	EFO	neoplasm	eccrine acrospiroma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000912	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	1148141	\N	\N	EFO	3	EFO	skin disease	eccrine acrospiroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000912	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	2030417	\N	\N	EFO	4	EFO	disease	eccrine acrospiroma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000912	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	2030418	\N	\N	EFO	4	EFO	disease	eccrine acrospiroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000912	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	3181095	\N	\N	EFO	5	EFO	disposition	eccrine acrospiroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000912	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	4389587	\N	\N	EFO	6	EFO	material property	eccrine acrospiroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000912	"A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." []	5409368	\N	\N	EFO	7	EFO	experimental factor	eccrine acrospiroma
EFO:1000913	\N	\N	"A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." []	EFO:1000913	"A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." []	70500	\N	\N	EFO	0	EFO	ehrlich tumor carcinoma	ehrlich tumor carcinoma
EFO:0000305	EFO:1000913	\N	"Tumors or cancer of the human BREAST." []	EFO:1000913	"A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." []	212979	\N	\N	EFO	1	EFO	breast carcinoma	ehrlich tumor carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000913	"A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." []	566729	\N	\N	EFO	2	EFO	carcinoma	ehrlich tumor carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000913	"A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." []	1148142	\N	\N	EFO	3	EFO	cancer	ehrlich tumor carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000913	"A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." []	1148143	\N	\N	EFO	3	EFO	epithelial neoplasm	ehrlich tumor carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000913	"A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." []	2030419	\N	\N	EFO	4	EFO	neoplasm	ehrlich tumor carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000913	"A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." []	2030420	\N	\N	EFO	4	EFO	neoplasm	ehrlich tumor carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000913	"A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." []	3181096	\N	\N	EFO	5	EFO	disease	ehrlich tumor carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000913	"A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." []	4389588	\N	\N	EFO	6	EFO	disposition	ehrlich tumor carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000913	"A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." []	5409369	\N	\N	EFO	7	EFO	material property	ehrlich tumor carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000913	"A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." []	6147638	\N	\N	EFO	8	EFO	experimental factor	ehrlich tumor carcinoma
EFO:1000914	\N	\N	"A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." []	EFO:1000914	"A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." []	70501	\N	\N	EFO	0	EFO	empty sella syndrome	empty sella syndrome
EFO:0001379	EFO:1000914	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000914	"A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." []	212980	\N	\N	EFO	1	EFO	endocrine system disease	empty sella syndrome
EFO:0005774	EFO:1000914	\N	"A disease affecting the brain or part of the brain." []	EFO:1000914	"A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." []	212981	\N	\N	EFO	1	EFO	brain disease	empty sella syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000914	"A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." []	566730	\N	\N	EFO	2	EFO	disease	empty sella syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000914	"A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." []	566731	\N	\N	EFO	2	EFO	nervous system disease	empty sella syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000914	"A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." []	2030422	\N	\N	EFO	4	EFO	disposition	empty sella syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000914	"A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." []	1148145	\N	\N	EFO	3	EFO	disease	empty sella syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000914	"A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." []	3000059	\N	\N	EFO	5	EFO	material property	empty sella syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000914	"A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." []	4133069	\N	\N	EFO	6	EFO	experimental factor	empty sella syndrome
EFO:1000915	\N	\N	"Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)" []	EFO:1000915	"Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)" []	70502	\N	\N	EFO	0	EFO	encephalomalacia	encephalomalacia
EFO:0005774	EFO:1000915	\N	"A disease affecting the brain or part of the brain." []	EFO:1000915	"Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)" []	212982	\N	\N	EFO	1	EFO	brain disease	encephalomalacia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000915	"Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)" []	566732	\N	\N	EFO	2	EFO	nervous system disease	encephalomalacia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000915	"Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)" []	1148146	\N	\N	EFO	3	EFO	disease	encephalomalacia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000915	"Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)" []	2030423	\N	\N	EFO	4	EFO	disposition	encephalomalacia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000915	"Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)" []	3181098	\N	\N	EFO	5	EFO	material property	encephalomalacia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000915	"Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)" []	4389589	\N	\N	EFO	6	EFO	experimental factor	encephalomalacia
EFO:1000916	\N	\N	"A form of IODINE deficiency disorders characterized by an enlargement of the THYROID GLAND in a significantly large fraction of a POPULATION GROUP. Endemic goiter is common in mountainous and iodine-deficient areas of the world where the DIET contains insufficient amount of iodine." []	EFO:1000916	"A form of IODINE deficiency disorders characterized by an enlargement of the THYROID GLAND in a significantly large fraction of a POPULATION GROUP. Endemic goiter is common in mountainous and iodine-deficient areas of the world where the DIET contains insufficient amount of iodine." []	70503	\N	\N	EFO	0	EFO	endemic goiter	endemic goiter
EFO:0004283	EFO:1000916	\N	"Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." []	EFO:1000916	"A form of IODINE deficiency disorders characterized by an enlargement of the THYROID GLAND in a significantly large fraction of a POPULATION GROUP. Endemic goiter is common in mountainous and iodine-deficient areas of the world where the DIET contains insufficient amount of iodine." []	212983	\N	\N	EFO	1	EFO	goiter	endemic goiter
EFO:0001379	EFO:0004283	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000916	"A form of IODINE deficiency disorders characterized by an enlargement of the THYROID GLAND in a significantly large fraction of a POPULATION GROUP. Endemic goiter is common in mountainous and iodine-deficient areas of the world where the DIET contains insufficient amount of iodine." []	566733	\N	\N	EFO	2	EFO	endocrine system disease	endemic goiter
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000916	"A form of IODINE deficiency disorders characterized by an enlargement of the THYROID GLAND in a significantly large fraction of a POPULATION GROUP. Endemic goiter is common in mountainous and iodine-deficient areas of the world where the DIET contains insufficient amount of iodine." []	1148147	\N	\N	EFO	3	EFO	disease	endemic goiter
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000916	"A form of IODINE deficiency disorders characterized by an enlargement of the THYROID GLAND in a significantly large fraction of a POPULATION GROUP. Endemic goiter is common in mountainous and iodine-deficient areas of the world where the DIET contains insufficient amount of iodine." []	2030424	\N	\N	EFO	4	EFO	disposition	endemic goiter
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000916	"A form of IODINE deficiency disorders characterized by an enlargement of the THYROID GLAND in a significantly large fraction of a POPULATION GROUP. Endemic goiter is common in mountainous and iodine-deficient areas of the world where the DIET contains insufficient amount of iodine." []	3181099	\N	\N	EFO	5	EFO	material property	endemic goiter
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000916	"A form of IODINE deficiency disorders characterized by an enlargement of the THYROID GLAND in a significantly large fraction of a POPULATION GROUP. Endemic goiter is common in mountainous and iodine-deficient areas of the world where the DIET contains insufficient amount of iodine." []	4389590	\N	\N	EFO	6	EFO	experimental factor	endemic goiter
EFO:1000917	\N	\N	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	EFO:1000917	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	70504	\N	\N	EFO	0	EFO	endocrine tuberculosis	endocrine tuberculosis
EFO:0001379	EFO:1000917	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000917	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	212984	\N	\N	EFO	1	EFO	endocrine system disease	endocrine tuberculosis
Orphanet:3389	EFO:1000917	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:1000917	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	212985	\N	\N	EFO	1	EFO	Tuberculosis	endocrine tuberculosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000917	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	566734	\N	\N	EFO	2	EFO	disease	endocrine tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000917	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	566735	\N	\N	EFO	2	EFO	respiratory system disease	endocrine tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000917	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	566736	\N	\N	EFO	2	EFO	bacterial disease	endocrine tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000917	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	3181101	\N	\N	EFO	5	EFO	disposition	endocrine tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000917	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	1148149	\N	\N	EFO	3	EFO	disease	endocrine tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000917	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	1148150	\N	\N	EFO	3	EFO	infectious disease	endocrine tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000917	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	4066810	\N	\N	EFO	6	EFO	material property	endocrine tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000917	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	2030427	\N	\N	EFO	4	EFO	disease	endocrine tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000917	"Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." []	5059499	\N	\N	EFO	7	EFO	experimental factor	endocrine tuberculosis
EFO:1000918	\N	\N	"An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO." []	EFO:1000918	"An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO." []	70505	\N	\N	EFO	0	EFO	endolymphatic hydrops	endolymphatic hydrops
EFO:0001058	EFO:1000918	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1000918	"An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO." []	212986	\N	\N	EFO	1	EFO	sensory system disease	endolymphatic hydrops
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000918	"An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO." []	566737	\N	\N	EFO	2	EFO	nervous system disease	endolymphatic hydrops
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000918	"An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO." []	1148151	\N	\N	EFO	3	EFO	disease	endolymphatic hydrops
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000918	"An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO." []	2030428	\N	\N	EFO	4	EFO	disposition	endolymphatic hydrops
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000918	"An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO." []	3181102	\N	\N	EFO	5	EFO	material property	endolymphatic hydrops
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000918	"An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO." []	4389591	\N	\N	EFO	6	EFO	experimental factor	endolymphatic hydrops
EFO:1000919	\N	\N	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	EFO:1000919	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	70506	\N	\N	EFO	0	EFO	endometrial stromal sarcoma	endometrial stromal sarcoma
EFO:0000512	EFO:1000919	\N	"any diease of the reproductive system" []	EFO:1000919	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	212987	\N	\N	EFO	1	EFO	reproductive system disease	endometrial stromal sarcoma
EFO:0000691	EFO:1000919	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000919	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	212988	\N	\N	EFO	1	EFO	sarcoma	endometrial stromal sarcoma
EFO:0003863	EFO:1000919	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000919	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	212989	\N	\N	EFO	1	EFO	urogenital neoplasm	endometrial stromal sarcoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000919	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	566738	\N	\N	EFO	2	EFO	disease	endometrial stromal sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000919	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	566739	\N	\N	EFO	2	EFO	cancer	endometrial stromal sarcoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000919	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	566740	\N	\N	EFO	2	EFO	neoplasm	endometrial stromal sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000919	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	3000062	\N	\N	EFO	5	EFO	disposition	endometrial stromal sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000919	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	1148153	\N	\N	EFO	3	EFO	neoplasm	endometrial stromal sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000919	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	2030430	\N	\N	EFO	4	EFO	disease	endometrial stromal sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000919	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	4066811	\N	\N	EFO	6	EFO	material property	endometrial stromal sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000919	"A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)." []	5059500	\N	\N	EFO	7	EFO	experimental factor	endometrial stromal sarcoma
EFO:1000920	\N	\N	"Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." []	EFO:1000920	"Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." []	70507	\N	\N	EFO	0	EFO	endometrial stromal tumor	endometrial stromal tumor
EFO:0004230	EFO:1000920	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1000920	"Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." []	212990	\N	\N	EFO	1	EFO	endometrial neoplasm	endometrial stromal tumor
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1000920	"Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." []	566741	\N	\N	EFO	2	EFO	uterine neoplasm	endometrial stromal tumor
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1000920	"Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." []	1148155	\N	\N	EFO	3	EFO	reproductive system disease	endometrial stromal tumor
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1000920	"Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." []	1148156	\N	\N	EFO	3	EFO	urogenital neoplasm	endometrial stromal tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000920	"Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." []	2030432	\N	\N	EFO	4	EFO	disease	endometrial stromal tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000920	"Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." []	2030433	\N	\N	EFO	4	EFO	neoplasm	endometrial stromal tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000920	"Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." []	4389593	\N	\N	EFO	6	EFO	disposition	endometrial stromal tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000920	"Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." []	3181105	\N	\N	EFO	5	EFO	disease	endometrial stromal tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000920	"Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." []	5181315	\N	\N	EFO	7	EFO	material property	endometrial stromal tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000920	"Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." []	5996745	\N	\N	EFO	8	EFO	experimental factor	endometrial stromal tumor
EFO:1000921	\N	\N	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	EFO:1000921	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	70508	\N	\N	EFO	0	EFO	endomyocardial fibrosis	endomyocardial fibrosis
EFO:0002630	EFO:1000921	\N	"A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." []	EFO:1000921	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	212991	\N	\N	EFO	1	EFO	restrictive cardiomyopathy	endomyocardial fibrosis
EFO:0006890	EFO:1000921	\N	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	EFO:1000921	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	212992	\N	\N	EFO	1	EFO	fibrosis	endomyocardial fibrosis
EFO:0000318	EFO:0002630	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:1000921	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	566742	\N	\N	EFO	2	EFO	cardiomyopathy	endomyocardial fibrosis
EFO:0000616	EFO:0006890	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000921	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	566743	\N	\N	EFO	2	EFO	neoplasm	endomyocardial fibrosis
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000921	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	1148157	\N	\N	EFO	3	EFO	heart disease	endomyocardial fibrosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000921	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	1148158	\N	\N	EFO	3	EFO	disease	endomyocardial fibrosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000921	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	2030434	\N	\N	EFO	4	EFO	cardiovascular disease	endomyocardial fibrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000921	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	4389594	\N	\N	EFO	6	EFO	disposition	endomyocardial fibrosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000921	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	3181106	\N	\N	EFO	5	EFO	disease	endomyocardial fibrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000921	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	5059501	\N	\N	EFO	7	EFO	material property	endomyocardial fibrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000921	"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." []	5876653	\N	\N	EFO	8	EFO	experimental factor	endomyocardial fibrosis
EFO:1000922	\N	\N	"Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces \\"struck\\", and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." []	EFO:1000922	"Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces \\"struck\\", and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." []	70509	\N	\N	EFO	0	EFO	enterotoxemia	enterotoxemia
EFO:0005932	EFO:1000922	\N	"A disease that occurs in animals." []	EFO:1000922	"Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces \\"struck\\", and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." []	212993	\N	\N	EFO	1	EFO	animal disease	enterotoxemia
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000922	"Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces \\"struck\\", and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." []	566744	\N	\N	EFO	2	EFO	disease	enterotoxemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000922	"Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces \\"struck\\", and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." []	1148159	\N	\N	EFO	3	EFO	disposition	enterotoxemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000922	"Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces \\"struck\\", and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." []	2030436	\N	\N	EFO	4	EFO	material property	enterotoxemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000922	"Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces \\"struck\\", and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." []	3181108	\N	\N	EFO	5	EFO	experimental factor	enterotoxemia
EFO:1000923	\N	\N	"Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." []	EFO:1000923	"Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." []	70510	\N	\N	EFO	0	EFO	epidural neoplasm	epidural neoplasm
EFO:0003828	EFO:1000923	\N	"Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." []	EFO:1000923	"Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." []	212994	\N	\N	EFO	1	EFO	spinal cord neoplasm	epidural neoplasm
EFO:0000616	EFO:0003828	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000923	"Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." []	566745	\N	\N	EFO	2	EFO	neoplasm	epidural neoplasm
EFO:0000618	EFO:0003828	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000923	"Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." []	566746	\N	\N	EFO	2	EFO	nervous system disease	epidural neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000923	"Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." []	1148160	\N	\N	EFO	3	EFO	disease	epidural neoplasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000923	"Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." []	1148161	\N	\N	EFO	3	EFO	disease	epidural neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000923	"Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." []	2030437	\N	\N	EFO	4	EFO	disposition	epidural neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000923	"Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." []	3181109	\N	\N	EFO	5	EFO	material property	epidural neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000923	"Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." []	4389596	\N	\N	EFO	6	EFO	experimental factor	epidural neoplasm
EFO:1000924	\N	\N	"A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" []	EFO:1000924	"A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" []	70511	\N	\N	EFO	0	EFO	epilepsia partialis continua	epilepsia partialis continua
EFO:0000474	EFO:1000924	\N	"A disorder characterized by recurrent seizures" []	EFO:1000924	"A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" []	212995	\N	\N	EFO	1	EFO	epilepsy	epilepsia partialis continua
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:1000924	"A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" []	566747	\N	\N	EFO	2	EFO	brain disease	epilepsia partialis continua
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000924	"A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" []	1148162	\N	\N	EFO	3	EFO	nervous system disease	epilepsia partialis continua
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000924	"A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" []	2030438	\N	\N	EFO	4	EFO	disease	epilepsia partialis continua
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000924	"A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" []	3181110	\N	\N	EFO	5	EFO	disposition	epilepsia partialis continua
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000924	"A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" []	4389597	\N	\N	EFO	6	EFO	material property	epilepsia partialis continua
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000924	"A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" []	5409371	\N	\N	EFO	7	EFO	experimental factor	epilepsia partialis continua
EFO:1000925	\N	\N	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	EFO:1000925	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	70512	\N	\N	EFO	0	EFO	epithelioid and spindle cell nevus	epithelioid and spindle cell nevus
EFO:0000625	EFO:1000925	\N	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	EFO:1000925	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	212996	\N	\N	EFO	1	EFO	nevus	epithelioid and spindle cell nevus
EFO:0002422	EFO:0000625	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000925	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	566748	\N	\N	EFO	2	EFO	benign neoplasm	epithelioid and spindle cell nevus
EFO:0004198	EFO:0000625	\N	"Tumors or cancer of the SKIN." []	EFO:1000925	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	566749	\N	\N	EFO	2	EFO	skin neoplasm	epithelioid and spindle cell nevus
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000925	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	1148163	\N	\N	EFO	3	EFO	neoplasm	epithelioid and spindle cell nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000925	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	1148164	\N	\N	EFO	3	EFO	neoplasm	epithelioid and spindle cell nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000925	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	1148165	\N	\N	EFO	3	EFO	skin disease	epithelioid and spindle cell nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000925	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	2030439	\N	\N	EFO	4	EFO	disease	epithelioid and spindle cell nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000925	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	2030440	\N	\N	EFO	4	EFO	disease	epithelioid and spindle cell nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000925	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	3181111	\N	\N	EFO	5	EFO	disposition	epithelioid and spindle cell nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000925	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	4389598	\N	\N	EFO	6	EFO	material property	epithelioid and spindle cell nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000925	"A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" []	5409372	\N	\N	EFO	7	EFO	experimental factor	epithelioid and spindle cell nevus
EFO:1000926	\N	\N	"A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones." []	EFO:1000926	"A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones." []	70513	\N	\N	EFO	0	EFO	Erdheim-Chester disease	Erdheim-Chester disease
EFO:0005561	EFO:1000926	\N	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	EFO:1000926	"A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones." []	212997	\N	\N	EFO	1	EFO	histiocytoma	Erdheim-Chester disease
EFO:0000691	EFO:0005561	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000926	"A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones." []	566750	\N	\N	EFO	2	EFO	sarcoma	Erdheim-Chester disease
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000926	"A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones." []	1148166	\N	\N	EFO	3	EFO	cancer	Erdheim-Chester disease
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000926	"A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones." []	2030441	\N	\N	EFO	4	EFO	neoplasm	Erdheim-Chester disease
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000926	"A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones." []	3181112	\N	\N	EFO	5	EFO	disease	Erdheim-Chester disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000926	"A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones." []	4389599	\N	\N	EFO	6	EFO	disposition	Erdheim-Chester disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000926	"A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones." []	5409373	\N	\N	EFO	7	EFO	material property	Erdheim-Chester disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000926	"A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones." []	6147639	\N	\N	EFO	8	EFO	experimental factor	Erdheim-Chester disease
EFO:1000927	\N	\N	"Infections with bacteria of the genus ERYSIPELOTHRIX." []	EFO:1000927	"Infections with bacteria of the genus ERYSIPELOTHRIX." []	70514	\N	\N	EFO	0	EFO	Erysipelothrix infectious disease	Erysipelothrix infectious disease
EFO:0000771	EFO:1000927	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000927	"Infections with bacteria of the genus ERYSIPELOTHRIX." []	212998	\N	\N	EFO	1	EFO	bacterial disease	Erysipelothrix infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000927	"Infections with bacteria of the genus ERYSIPELOTHRIX." []	566751	\N	\N	EFO	2	EFO	infectious disease	Erysipelothrix infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000927	"Infections with bacteria of the genus ERYSIPELOTHRIX." []	1148167	\N	\N	EFO	3	EFO	disease	Erysipelothrix infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000927	"Infections with bacteria of the genus ERYSIPELOTHRIX." []	2030442	\N	\N	EFO	4	EFO	disposition	Erysipelothrix infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000927	"Infections with bacteria of the genus ERYSIPELOTHRIX." []	3181113	\N	\N	EFO	5	EFO	material property	Erysipelothrix infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000927	"Infections with bacteria of the genus ERYSIPELOTHRIX." []	4389600	\N	\N	EFO	6	EFO	experimental factor	Erysipelothrix infectious disease
EFO:1000928	\N	\N	"An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis." []	EFO:1000928	"An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis." []	70515	\N	\N	EFO	0	EFO	Erysipelothrix rhusiopathiae infectious disease	Erysipelothrix rhusiopathiae infectious disease
EFO:0000771	EFO:1000928	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000928	"An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis." []	212999	\N	\N	EFO	1	EFO	bacterial disease	Erysipelothrix rhusiopathiae infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000928	"An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis." []	566752	\N	\N	EFO	2	EFO	infectious disease	Erysipelothrix rhusiopathiae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000928	"An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis." []	1148168	\N	\N	EFO	3	EFO	disease	Erysipelothrix rhusiopathiae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000928	"An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis." []	2030443	\N	\N	EFO	4	EFO	disposition	Erysipelothrix rhusiopathiae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000928	"An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis." []	3181114	\N	\N	EFO	5	EFO	material property	Erysipelothrix rhusiopathiae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000928	"An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis." []	4389601	\N	\N	EFO	6	EFO	experimental factor	Erysipelothrix rhusiopathiae infectious disease
EFO:1000929	\N	\N	"A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" []	EFO:1000929	"A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" []	70516	\N	\N	EFO	0	EFO	Escherichia coli meningitis	Escherichia coli meningitis
EFO:1000831	EFO:1000929	\N	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	EFO:1000929	"A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" []	213000	\N	\N	EFO	1	EFO	bacterial meningitis	Escherichia coli meningitis
EFO:0000584	EFO:1000831	\N	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	EFO:1000929	"A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" []	566753	\N	\N	EFO	2	EFO	infectious meningitis	Escherichia coli meningitis
EFO:0005741	EFO:0000584	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000929	"A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" []	1148169	\N	\N	EFO	3	EFO	infectious disease	Escherichia coli meningitis
EFO:0005774	EFO:0000584	\N	"A disease affecting the brain or part of the brain." []	EFO:1000929	"A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" []	1148170	\N	\N	EFO	3	EFO	brain disease	Escherichia coli meningitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000929	"A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" []	2030444	\N	\N	EFO	4	EFO	disease	Escherichia coli meningitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000929	"A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" []	2030445	\N	\N	EFO	4	EFO	nervous system disease	Escherichia coli meningitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000929	"A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" []	4389603	\N	\N	EFO	6	EFO	disposition	Escherichia coli meningitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000929	"A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" []	3181116	\N	\N	EFO	5	EFO	disease	Escherichia coli meningitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000929	"A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" []	5181316	\N	\N	EFO	7	EFO	material property	Escherichia coli meningitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000929	"A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" []	5996746	\N	\N	EFO	8	EFO	experimental factor	Escherichia coli meningitis
EFO:1000930	\N	\N	"A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS." []	EFO:1000930	"A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS." []	70517	\N	\N	EFO	0	EFO	esophageal diverticulosis	esophageal diverticulosis
EFO:0000405	EFO:1000930	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000930	"A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS." []	213001	\N	\N	EFO	1	EFO	digestive system disease	esophageal diverticulosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000930	"A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS." []	566754	\N	\N	EFO	2	EFO	disease	esophageal diverticulosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000930	"A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS." []	1148171	\N	\N	EFO	3	EFO	disposition	esophageal diverticulosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000930	"A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS." []	2030446	\N	\N	EFO	4	EFO	material property	esophageal diverticulosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000930	"A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS." []	3181117	\N	\N	EFO	5	EFO	experimental factor	esophageal diverticulosis
EFO:1000931	\N	\N	"Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." []	EFO:1000931	"Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." []	70518	\N	\N	EFO	0	EFO	euthyroid sick syndrome	euthyroid sick syndrome
EFO:1000627	EFO:1000931	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1000931	"Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." []	213002	\N	\N	EFO	1	EFO	thyroid disease	euthyroid sick syndrome
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000931	"Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." []	566755	\N	\N	EFO	2	EFO	endocrine system disease	euthyroid sick syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000931	"Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." []	1148172	\N	\N	EFO	3	EFO	disease	euthyroid sick syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000931	"Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." []	2030447	\N	\N	EFO	4	EFO	disposition	euthyroid sick syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000931	"Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." []	3181118	\N	\N	EFO	5	EFO	material property	euthyroid sick syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000931	"Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." []	4389604	\N	\N	EFO	6	EFO	experimental factor	euthyroid sick syndrome
EFO:1000932	\N	\N	"A solid tumor consisting of a dense infiltration of MAST CELLS. It is generally benign." []	EFO:1000932	"A solid tumor consisting of a dense infiltration of MAST CELLS. It is generally benign." []	70519	\N	\N	EFO	0	EFO	extracutaneous mastocytoma	extracutaneous mastocytoma
EFO:0000616	EFO:1000932	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000932	"A solid tumor consisting of a dense infiltration of MAST CELLS. It is generally benign." []	213003	\N	\N	EFO	1	EFO	neoplasm	extracutaneous mastocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000932	"A solid tumor consisting of a dense infiltration of MAST CELLS. It is generally benign." []	566756	\N	\N	EFO	2	EFO	disease	extracutaneous mastocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000932	"A solid tumor consisting of a dense infiltration of MAST CELLS. It is generally benign." []	1148173	\N	\N	EFO	3	EFO	disposition	extracutaneous mastocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000932	"A solid tumor consisting of a dense infiltration of MAST CELLS. It is generally benign." []	2030448	\N	\N	EFO	4	EFO	material property	extracutaneous mastocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000932	"A solid tumor consisting of a dense infiltration of MAST CELLS. It is generally benign." []	3181119	\N	\N	EFO	5	EFO	experimental factor	extracutaneous mastocytoma
EFO:1000933	\N	\N	"Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." []	EFO:1000933	"Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." []	70520	\N	\N	EFO	0	EFO	extrahepatic cholestasis	extrahepatic cholestasis
EFO:1000400	EFO:1000933	\N	"A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." []	EFO:1000933	"Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." []	213004	\N	\N	EFO	1	EFO	Non-Neoplastic Bile Duct Disorder	extrahepatic cholestasis
EFO:0001421	EFO:1000400	\N	"Pathological processes of the LIVER." []	EFO:1000933	"Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." []	566757	\N	\N	EFO	2	EFO	liver disease	extrahepatic cholestasis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000933	"Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." []	1148174	\N	\N	EFO	3	EFO	digestive system disease	extrahepatic cholestasis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000933	"Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." []	1148175	\N	\N	EFO	3	EFO	endocrine system disease	extrahepatic cholestasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000933	"Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." []	2030449	\N	\N	EFO	4	EFO	disease	extrahepatic cholestasis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000933	"Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." []	2030450	\N	\N	EFO	4	EFO	disease	extrahepatic cholestasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000933	"Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." []	3181120	\N	\N	EFO	5	EFO	disposition	extrahepatic cholestasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000933	"Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." []	4389605	\N	\N	EFO	6	EFO	material property	extrahepatic cholestasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000933	"Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes." []	5409375	\N	\N	EFO	7	EFO	experimental factor	extrahepatic cholestasis
EFO:1000934	\N	\N	"Tumors of cancer of the EYELIDS." []	EFO:1000934	"Tumors of cancer of the EYELIDS." []	70521	\N	\N	EFO	0	EFO	eyelid neoplasm	eyelid neoplasm
EFO:0003966	EFO:1000934	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000934	"Tumors of cancer of the EYELIDS." []	213005	\N	\N	EFO	1	EFO	eye disease	eyelid neoplasm
EFO:0004198	EFO:1000934	\N	"Tumors or cancer of the SKIN." []	EFO:1000934	"Tumors of cancer of the EYELIDS." []	213006	\N	\N	EFO	1	EFO	skin neoplasm	eyelid neoplasm
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000934	"Tumors of cancer of the EYELIDS." []	566758	\N	\N	EFO	2	EFO	disease	eyelid neoplasm
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000934	"Tumors of cancer of the EYELIDS." []	566759	\N	\N	EFO	2	EFO	neoplasm	eyelid neoplasm
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000934	"Tumors of cancer of the EYELIDS." []	566760	\N	\N	EFO	2	EFO	skin disease	eyelid neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000934	"Tumors of cancer of the EYELIDS." []	2030452	\N	\N	EFO	4	EFO	disposition	eyelid neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000934	"Tumors of cancer of the EYELIDS." []	1148177	\N	\N	EFO	3	EFO	disease	eyelid neoplasm
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000934	"Tumors of cancer of the EYELIDS." []	1148178	\N	\N	EFO	3	EFO	disease	eyelid neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000934	"Tumors of cancer of the EYELIDS." []	3000063	\N	\N	EFO	5	EFO	material property	eyelid neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000934	"Tumors of cancer of the EYELIDS." []	4133072	\N	\N	EFO	6	EFO	experimental factor	eyelid neoplasm
EFO:1000935	\N	\N	"MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)." []	EFO:1000935	"MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)." []	70522	\N	\N	EFO	0	EFO	female genital tuberculosis	female genital tuberculosis
EFO:0000512	EFO:1000935	\N	"any diease of the reproductive system" []	EFO:1000935	"MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)." []	213007	\N	\N	EFO	1	EFO	reproductive system disease	female genital tuberculosis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000935	"MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)." []	566761	\N	\N	EFO	2	EFO	disease	female genital tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000935	"MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)." []	1148179	\N	\N	EFO	3	EFO	disposition	female genital tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000935	"MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)." []	2030453	\N	\N	EFO	4	EFO	material property	female genital tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000935	"MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)." []	3181122	\N	\N	EFO	5	EFO	experimental factor	female genital tuberculosis
EFO:1000936	\N	\N	"Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh." []	EFO:1000936	"Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh." []	70523	\N	\N	EFO	0	EFO	femoral neuropathy	femoral neuropathy
EFO:0004149	EFO:1000936	\N	"A nervous system disease that is located in the nervous system." []	EFO:1000936	"Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh." []	213008	\N	\N	EFO	1	EFO	neuropathy	femoral neuropathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000936	"Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh." []	566762	\N	\N	EFO	2	EFO	nervous system disease	femoral neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000936	"Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh." []	1148180	\N	\N	EFO	3	EFO	disease	femoral neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000936	"Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh." []	2030454	\N	\N	EFO	4	EFO	disposition	femoral neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000936	"Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh." []	3181123	\N	\N	EFO	5	EFO	material property	femoral neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000936	"Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh." []	4389606	\N	\N	EFO	6	EFO	experimental factor	femoral neuropathy
EFO:1000937	\N	\N	"A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN." []	EFO:1000937	"A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN." []	70524	\N	\N	EFO	0	EFO	fetal erythroblastosis	fetal erythroblastosis
EFO:0005803	EFO:1000937	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000937	"A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN." []	213009	\N	\N	EFO	1	EFO	hematological system disease	fetal erythroblastosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000937	"A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN." []	566763	\N	\N	EFO	2	EFO	disease	fetal erythroblastosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000937	"A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN." []	1148181	\N	\N	EFO	3	EFO	disposition	fetal erythroblastosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000937	"A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN." []	2030455	\N	\N	EFO	4	EFO	material property	fetal erythroblastosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000937	"A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN." []	3181124	\N	\N	EFO	5	EFO	experimental factor	fetal erythroblastosis
EFO:1000938	\N	\N	"An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity." []	EFO:1000938	"An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity." []	70525	\N	\N	EFO	0	EFO	fibromuscular dysplasia	fibromuscular dysplasia
EFO:0000319	EFO:1000938	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000938	"An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity." []	213010	\N	\N	EFO	1	EFO	cardiovascular disease	fibromuscular dysplasia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000938	"An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity." []	566764	\N	\N	EFO	2	EFO	disease	fibromuscular dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000938	"An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity." []	1148182	\N	\N	EFO	3	EFO	disposition	fibromuscular dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000938	"An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity." []	2030456	\N	\N	EFO	4	EFO	material property	fibromuscular dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000938	"An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity." []	3181125	\N	\N	EFO	5	EFO	experimental factor	fibromuscular dysplasia
EFO:1000939	\N	\N	"A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric \\"female\\"(CHIMERISM)." []	EFO:1000939	"A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric \\"female\\"(CHIMERISM)." []	70526	\N	\N	EFO	0	EFO	freemartinism	freemartinism
EFO:0000512	EFO:1000939	\N	"any diease of the reproductive system" []	EFO:1000939	"A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric \\"female\\"(CHIMERISM)." []	213011	\N	\N	EFO	1	EFO	reproductive system disease	freemartinism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000939	"A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric \\"female\\"(CHIMERISM)." []	566765	\N	\N	EFO	2	EFO	disease	freemartinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000939	"A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric \\"female\\"(CHIMERISM)." []	1148183	\N	\N	EFO	3	EFO	disposition	freemartinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000939	"A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric \\"female\\"(CHIMERISM)." []	2030457	\N	\N	EFO	4	EFO	material property	freemartinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000939	"A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric \\"female\\"(CHIMERISM)." []	3181126	\N	\N	EFO	5	EFO	experimental factor	freemartinism
EFO:1000940	\N	\N	"An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" []	EFO:1000940	"An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" []	70527	\N	\N	EFO	0	EFO	Frey Syndrome	Frey Syndrome
EFO:0000618	EFO:1000940	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000940	"An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" []	213012	\N	\N	EFO	1	EFO	nervous system disease	Frey Syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000940	"An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" []	566766	\N	\N	EFO	2	EFO	disease	Frey Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000940	"An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" []	1148184	\N	\N	EFO	3	EFO	disposition	Frey Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000940	"An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" []	2030458	\N	\N	EFO	4	EFO	material property	Frey Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000940	"An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" []	3181127	\N	\N	EFO	5	EFO	experimental factor	Frey Syndrome
EFO:1000941	\N	\N	"Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." []	EFO:1000941	"Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." []	70528	\N	\N	EFO	0	EFO	frozen shoulder	frozen shoulder
EFO:0002970	EFO:1000941	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1000941	"Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." []	213013	\N	\N	EFO	1	EFO	muscular disease	frozen shoulder
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1000941	"Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." []	566767	\N	\N	EFO	2	EFO	skeletal system disease	frozen shoulder
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000941	"Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." []	1148185	\N	\N	EFO	3	EFO	disease	frozen shoulder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000941	"Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." []	2030459	\N	\N	EFO	4	EFO	disposition	frozen shoulder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000941	"Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." []	3181128	\N	\N	EFO	5	EFO	material property	frozen shoulder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000941	"Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." []	4389607	\N	\N	EFO	6	EFO	experimental factor	frozen shoulder
EFO:1000942	\N	\N	"Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." []	EFO:1000942	"Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." []	70529	\N	\N	EFO	0	EFO	fungal meningitis	fungal meningitis
EFO:0000584	EFO:1000942	\N	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	EFO:1000942	"Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." []	213014	\N	\N	EFO	1	EFO	infectious meningitis	fungal meningitis
EFO:0005741	EFO:0000584	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000942	"Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." []	566768	\N	\N	EFO	2	EFO	infectious disease	fungal meningitis
EFO:0005774	EFO:0000584	\N	"A disease affecting the brain or part of the brain." []	EFO:1000942	"Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." []	566769	\N	\N	EFO	2	EFO	brain disease	fungal meningitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000942	"Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." []	1148186	\N	\N	EFO	3	EFO	disease	fungal meningitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000942	"Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." []	1148187	\N	\N	EFO	3	EFO	nervous system disease	fungal meningitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000942	"Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." []	3181130	\N	\N	EFO	5	EFO	disposition	fungal meningitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000942	"Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." []	2030461	\N	\N	EFO	4	EFO	disease	fungal meningitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000942	"Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." []	4133073	\N	\N	EFO	6	EFO	material property	fungal meningitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000942	"Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." []	5181317	\N	\N	EFO	7	EFO	experimental factor	fungal meningitis
EFO:1000943	\N	\N	"Infections with bacteria of the genus FUSOBACTERIUM." []	EFO:1000943	"Infections with bacteria of the genus FUSOBACTERIUM." []	70530	\N	\N	EFO	0	EFO	Fusobacterium infectious disease	Fusobacterium infectious disease
EFO:0000771	EFO:1000943	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000943	"Infections with bacteria of the genus FUSOBACTERIUM." []	213015	\N	\N	EFO	1	EFO	bacterial disease	Fusobacterium infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000943	"Infections with bacteria of the genus FUSOBACTERIUM." []	566770	\N	\N	EFO	2	EFO	infectious disease	Fusobacterium infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000943	"Infections with bacteria of the genus FUSOBACTERIUM." []	1148188	\N	\N	EFO	3	EFO	disease	Fusobacterium infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000943	"Infections with bacteria of the genus FUSOBACTERIUM." []	2030462	\N	\N	EFO	4	EFO	disposition	Fusobacterium infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000943	"Infections with bacteria of the genus FUSOBACTERIUM." []	3181131	\N	\N	EFO	5	EFO	material property	Fusobacterium infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000943	"Infections with bacteria of the genus FUSOBACTERIUM." []	4389609	\N	\N	EFO	6	EFO	experimental factor	Fusobacterium infectious disease
EFO:1000944	\N	\N	"Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia." []	EFO:1000944	"Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia." []	70531	\N	\N	EFO	0	EFO	gait apraxia	gait apraxia
EFO:0000618	EFO:1000944	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000944	"Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia." []	213016	\N	\N	EFO	1	EFO	nervous system disease	gait apraxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000944	"Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia." []	566771	\N	\N	EFO	2	EFO	disease	gait apraxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000944	"Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia." []	1148189	\N	\N	EFO	3	EFO	disposition	gait apraxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000944	"Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia." []	2030463	\N	\N	EFO	4	EFO	material property	gait apraxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000944	"Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia." []	3181132	\N	\N	EFO	5	EFO	experimental factor	gait apraxia
EFO:1000945	\N	\N	"A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." []	EFO:1000945	"A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." []	70532	\N	\N	EFO	0	EFO	gastric antral vascular ectasia	gastric antral vascular ectasia
EFO:0000405	EFO:1000945	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000945	"A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." []	213017	\N	\N	EFO	1	EFO	digestive system disease	gastric antral vascular ectasia
EFO:0004264	EFO:1000945	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000945	"A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." []	213018	\N	\N	EFO	1	EFO	vascular disease	gastric antral vascular ectasia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000945	"A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." []	566772	\N	\N	EFO	2	EFO	disease	gastric antral vascular ectasia
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000945	"A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." []	566773	\N	\N	EFO	2	EFO	cardiovascular disease	gastric antral vascular ectasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000945	"A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." []	2030465	\N	\N	EFO	4	EFO	disposition	gastric antral vascular ectasia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000945	"A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." []	1148191	\N	\N	EFO	3	EFO	disease	gastric antral vascular ectasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000945	"A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." []	3000064	\N	\N	EFO	5	EFO	material property	gastric antral vascular ectasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000945	"A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." []	4133074	\N	\N	EFO	6	EFO	experimental factor	gastric antral vascular ectasia
EFO:1000946	\N	\N	"GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS." []	EFO:1000946	"GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS." []	70533	\N	\N	EFO	0	EFO	gastric mucosal hypertrophy	gastric mucosal hypertrophy
EFO:0000217	EFO:1000946	\N	"Inflammation of the stomach." []	EFO:1000946	"GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS." []	213019	\N	\N	EFO	1	EFO	gastritis	gastric mucosal hypertrophy
EFO:0000405	EFO:0000217	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000946	"GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS." []	566774	\N	\N	EFO	2	EFO	digestive system disease	gastric mucosal hypertrophy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000946	"GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS." []	1148192	\N	\N	EFO	3	EFO	disease	gastric mucosal hypertrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000946	"GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS." []	2030466	\N	\N	EFO	4	EFO	disposition	gastric mucosal hypertrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000946	"GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS." []	3181134	\N	\N	EFO	5	EFO	material property	gastric mucosal hypertrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000946	"GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS." []	4389610	\N	\N	EFO	6	EFO	experimental factor	gastric mucosal hypertrophy
EFO:1000947	\N	\N	"The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING." []	EFO:1000947	"The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING." []	70534	\N	\N	EFO	0	EFO	gastric outlet obstruction	gastric outlet obstruction
EFO:0000405	EFO:1000947	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000947	"The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING." []	213020	\N	\N	EFO	1	EFO	digestive system disease	gastric outlet obstruction
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000947	"The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING." []	566775	\N	\N	EFO	2	EFO	disease	gastric outlet obstruction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000947	"The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING." []	1148193	\N	\N	EFO	3	EFO	disposition	gastric outlet obstruction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000947	"The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING." []	2030467	\N	\N	EFO	4	EFO	material property	gastric outlet obstruction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000947	"The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING." []	3181135	\N	\N	EFO	5	EFO	experimental factor	gastric outlet obstruction
EFO:1000948	\N	\N	"Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS." []	EFO:1000948	"Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS." []	70535	\N	\N	EFO	0	EFO	gastroparesis	gastroparesis
EFO:0000405	EFO:1000948	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000948	"Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS." []	213021	\N	\N	EFO	1	EFO	digestive system disease	gastroparesis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000948	"Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS." []	566776	\N	\N	EFO	2	EFO	disease	gastroparesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000948	"Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS." []	1148194	\N	\N	EFO	3	EFO	disposition	gastroparesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000948	"Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS." []	2030468	\N	\N	EFO	4	EFO	material property	gastroparesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000948	"Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS." []	3181136	\N	\N	EFO	5	EFO	experimental factor	gastroparesis
EFO:1000949	\N	\N	"A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM." []	EFO:1000949	"A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM." []	70536	\N	\N	EFO	0	EFO	gastroschisis	gastroschisis
EFO:0000508	EFO:1000949	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000949	"A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM." []	213022	\N	\N	EFO	1	EFO	genetic disorder	gastroschisis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000949	"A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM." []	566777	\N	\N	EFO	2	EFO	disease	gastroschisis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000949	"A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM." []	1148195	\N	\N	EFO	3	EFO	disposition	gastroschisis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000949	"A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM." []	2030469	\N	\N	EFO	4	EFO	material property	gastroschisis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000949	"A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM." []	3181137	\N	\N	EFO	5	EFO	experimental factor	gastroschisis
EFO:1000950	\N	\N	"A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw." []	EFO:1000950	"A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw." []	70537	\N	\N	EFO	0	EFO	giant cell reparative granuloma	giant cell reparative granuloma
EFO:0007176	EFO:1000950	\N	"A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell)." []	EFO:1000950	"A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw." []	213023	\N	\N	EFO	1	EFO	bone giant cell tumor	giant cell reparative granuloma
EFO:0000691	EFO:0007176	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1000950	"A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw." []	566778	\N	\N	EFO	2	EFO	sarcoma	giant cell reparative granuloma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000950	"A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw." []	1148196	\N	\N	EFO	3	EFO	cancer	giant cell reparative granuloma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000950	"A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw." []	2030470	\N	\N	EFO	4	EFO	neoplasm	giant cell reparative granuloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000950	"A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw." []	3181138	\N	\N	EFO	5	EFO	disease	giant cell reparative granuloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000950	"A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw." []	4389611	\N	\N	EFO	6	EFO	disposition	giant cell reparative granuloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000950	"A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw." []	5409376	\N	\N	EFO	7	EFO	material property	giant cell reparative granuloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000950	"A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw." []	6147640	\N	\N	EFO	8	EFO	experimental factor	giant cell reparative granuloma
EFO:1000951	\N	\N	"Inflammation of the tongue." []	EFO:1000951	"Inflammation of the tongue." []	70538	\N	\N	EFO	0	EFO	glossitis	glossitis
EFO:0000524	EFO:1000951	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000951	"Inflammation of the tongue." []	213024	\N	\N	EFO	1	EFO	head disease	glossitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000951	"Inflammation of the tongue." []	566779	\N	\N	EFO	2	EFO	disease	glossitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000951	"Inflammation of the tongue." []	1148197	\N	\N	EFO	3	EFO	disposition	glossitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000951	"Inflammation of the tongue." []	2030471	\N	\N	EFO	4	EFO	material property	glossitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000951	"Inflammation of the tongue." []	3181139	\N	\N	EFO	5	EFO	experimental factor	glossitis
EFO:1000952	\N	\N	"An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." []	EFO:1000952	"An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." []	70539	\N	\N	EFO	0	EFO	glycogen storage disease VIII	glycogen storage disease VIII
Orphanet:79201	EFO:1000952	\N	"" []	EFO:1000952	"An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." []	213025	\N	\N	EFO	1	EFO	Glycogen storage disease	glycogen storage disease VIII
Orphanet:79161	Orphanet:79201	\N	"" []	EFO:1000952	"An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." []	566780	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	glycogen storage disease VIII
Orphanet:68367	Orphanet:79161	\N	"" []	EFO:1000952	"An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." []	1148198	\N	\N	EFO	3	EFO	Inborn errors of metabolism	glycogen storage disease VIII
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000952	"An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." []	2030472	\N	\N	EFO	4	EFO	genetic disorder	glycogen storage disease VIII
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000952	"An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." []	2030473	\N	\N	EFO	4	EFO	metabolic disease	glycogen storage disease VIII
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000952	"An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." []	3181140	\N	\N	EFO	5	EFO	disease	glycogen storage disease VIII
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000952	"An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." []	3181141	\N	\N	EFO	5	EFO	disease	glycogen storage disease VIII
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000952	"An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." []	4389612	\N	\N	EFO	6	EFO	disposition	glycogen storage disease VIII
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000952	"An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." []	5409377	\N	\N	EFO	7	EFO	material property	glycogen storage disease VIII
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000952	"An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." []	6147641	\N	\N	EFO	8	EFO	experimental factor	glycogen storage disease VIII
EFO:1000953	\N	\N	"Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells." []	EFO:1000953	"Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells." []	70540	\N	\N	EFO	0	EFO	gonadal tissue neoplasm	gonadal tissue neoplasm
EFO:1000051	EFO:1000953	\N	"A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" []	EFO:1000953	"Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells." []	213026	\N	\N	EFO	1	EFO	reproductive system neoplasm	gonadal tissue neoplasm
EFO:0000616	EFO:1000051	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000953	"Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells." []	566781	\N	\N	EFO	2	EFO	neoplasm	gonadal tissue neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000953	"Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells." []	1148199	\N	\N	EFO	3	EFO	disease	gonadal tissue neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000953	"Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells." []	2030474	\N	\N	EFO	4	EFO	disposition	gonadal tissue neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000953	"Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells." []	3181142	\N	\N	EFO	5	EFO	material property	gonadal tissue neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000953	"Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells." []	4389613	\N	\N	EFO	6	EFO	experimental factor	gonadal tissue neoplasm
EFO:1000954	\N	\N	"Three or more consecutive spontaneous abortions." []	EFO:1000954	"Three or more consecutive spontaneous abortions." []	70541	\N	\N	EFO	0	EFO	habitual abortion	habitual abortion
EFO:1001491	EFO:1000954	\N	"the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus." []	EFO:1000954	"Three or more consecutive spontaneous abortions." []	213027	\N	\N	EFO	1	EFO	abortion	habitual abortion
EFO:0000512	EFO:1001491	\N	"any diease of the reproductive system" []	EFO:1000954	"Three or more consecutive spontaneous abortions." []	566782	\N	\N	EFO	2	EFO	reproductive system disease	habitual abortion
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000954	"Three or more consecutive spontaneous abortions." []	1148200	\N	\N	EFO	3	EFO	disease	habitual abortion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000954	"Three or more consecutive spontaneous abortions." []	2030475	\N	\N	EFO	4	EFO	disposition	habitual abortion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000954	"Three or more consecutive spontaneous abortions." []	3181143	\N	\N	EFO	5	EFO	material property	habitual abortion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000954	"Three or more consecutive spontaneous abortions." []	4389614	\N	\N	EFO	6	EFO	experimental factor	habitual abortion
EFO:1000955	\N	\N	"Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." []	EFO:1000955	"Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." []	70542	\N	\N	EFO	0	EFO	Haemophilus influenzae meningitis	Haemophilus influenzae meningitis
EFO:0000584	EFO:1000955	\N	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	EFO:1000955	"Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." []	213028	\N	\N	EFO	1	EFO	infectious meningitis	Haemophilus influenzae meningitis
EFO:0005741	EFO:0000584	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000955	"Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." []	566783	\N	\N	EFO	2	EFO	infectious disease	Haemophilus influenzae meningitis
EFO:0005774	EFO:0000584	\N	"A disease affecting the brain or part of the brain." []	EFO:1000955	"Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." []	566784	\N	\N	EFO	2	EFO	brain disease	Haemophilus influenzae meningitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000955	"Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." []	1148201	\N	\N	EFO	3	EFO	disease	Haemophilus influenzae meningitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000955	"Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." []	1148202	\N	\N	EFO	3	EFO	nervous system disease	Haemophilus influenzae meningitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000955	"Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." []	3181145	\N	\N	EFO	5	EFO	disposition	Haemophilus influenzae meningitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000955	"Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." []	2030477	\N	\N	EFO	4	EFO	disease	Haemophilus influenzae meningitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000955	"Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." []	4133075	\N	\N	EFO	6	EFO	material property	Haemophilus influenzae meningitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000955	"Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." []	5181318	\N	\N	EFO	7	EFO	experimental factor	Haemophilus influenzae meningitis
EFO:1000956	\N	\N	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	70543	\N	\N	EFO	0	EFO	hairy cell leukemia	hairy cell leukemia
EFO:0000095	EFO:1000956	\N	"A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	213029	\N	\N	EFO	1	EFO	chronic lymphocytic leukemia	hairy cell leukemia
EFO:0000096	EFO:0000095	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	566785	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	hairy cell leukemia
EFO:0000565	EFO:0000095	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	566786	\N	\N	EFO	2	EFO	leukemia	hairy cell leukemia
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	1148203	\N	\N	EFO	3	EFO	lymphoid neoplasm	hairy cell leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	1148204	\N	\N	EFO	3	EFO	lymphoid neoplasm	hairy cell leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	2030478	\N	\N	EFO	4	EFO	cancer	hairy cell leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	2030479	\N	\N	EFO	4	EFO	hematological system disease	hairy cell leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	3181146	\N	\N	EFO	5	EFO	neoplasm	hairy cell leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	3181147	\N	\N	EFO	5	EFO	disease	hairy cell leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	4389616	\N	\N	EFO	6	EFO	disease	hairy cell leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	5409378	\N	\N	EFO	7	EFO	disposition	hairy cell leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	5996747	\N	\N	EFO	8	EFO	material property	hairy cell leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000956	"A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of \\"hairy\\" or \\"flagellated\\" cells in the blood and bone marrow." []	6550413	\N	\N	EFO	9	EFO	experimental factor	hairy cell leukemia
EFO:1000957	\N	\N	"A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" []	EFO:1000957	"A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" []	70544	\N	\N	EFO	0	EFO	hairy tongue	hairy tongue
EFO:1001047	EFO:1000957	\N	"Any disease of the oral cavity" []	EFO:1000957	"A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" []	213030	\N	\N	EFO	1	EFO	mouth disease	hairy tongue
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000957	"A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" []	566787	\N	\N	EFO	2	EFO	digestive system disease	hairy tongue
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000957	"A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" []	566788	\N	\N	EFO	2	EFO	head disease	hairy tongue
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000957	"A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" []	1148205	\N	\N	EFO	3	EFO	disease	hairy tongue
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000957	"A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" []	1148206	\N	\N	EFO	3	EFO	disease	hairy tongue
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000957	"A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" []	2030480	\N	\N	EFO	4	EFO	disposition	hairy tongue
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000957	"A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" []	3181148	\N	\N	EFO	5	EFO	material property	hairy tongue
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000957	"A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" []	4389618	\N	\N	EFO	6	EFO	experimental factor	hairy tongue
EFO:1000958	\N	\N	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	EFO:1000958	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	70545	\N	\N	EFO	0	EFO	halo nevus	halo nevus
EFO:0000625	EFO:1000958	\N	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	EFO:1000958	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	213031	\N	\N	EFO	1	EFO	nevus	halo nevus
EFO:0002422	EFO:0000625	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000958	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	566789	\N	\N	EFO	2	EFO	benign neoplasm	halo nevus
EFO:0004198	EFO:0000625	\N	"Tumors or cancer of the SKIN." []	EFO:1000958	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	566790	\N	\N	EFO	2	EFO	skin neoplasm	halo nevus
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000958	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	1148207	\N	\N	EFO	3	EFO	neoplasm	halo nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000958	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	1148208	\N	\N	EFO	3	EFO	neoplasm	halo nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000958	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	1148209	\N	\N	EFO	3	EFO	skin disease	halo nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000958	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	2030481	\N	\N	EFO	4	EFO	disease	halo nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000958	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	2030482	\N	\N	EFO	4	EFO	disease	halo nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000958	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	3181149	\N	\N	EFO	5	EFO	disposition	halo nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000958	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	4389619	\N	\N	EFO	6	EFO	material property	halo nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000958	"A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." []	5409380	\N	\N	EFO	7	EFO	experimental factor	halo nevus
EFO:1000959	\N	\N	"A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture." []	EFO:1000959	"A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture." []	70546	\N	\N	EFO	0	EFO	heart aneurysm	heart aneurysm
EFO:0003777	EFO:1000959	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000959	"A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture." []	213032	\N	\N	EFO	1	EFO	heart disease	heart aneurysm
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000959	"A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture." []	566791	\N	\N	EFO	2	EFO	cardiovascular disease	heart aneurysm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000959	"A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture." []	1148210	\N	\N	EFO	3	EFO	disease	heart aneurysm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000959	"A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture." []	2030483	\N	\N	EFO	4	EFO	disposition	heart aneurysm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000959	"A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture." []	3181150	\N	\N	EFO	5	EFO	material property	heart aneurysm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000959	"A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture." []	4389620	\N	\N	EFO	6	EFO	experimental factor	heart aneurysm
EFO:1000960	\N	\N	"A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM." []	EFO:1000960	"A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM." []	70547	\N	\N	EFO	0	EFO	heartwater disease	heartwater disease
EFO:0000771	EFO:1000960	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000960	"A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM." []	213033	\N	\N	EFO	1	EFO	bacterial disease	heartwater disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000960	"A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM." []	566792	\N	\N	EFO	2	EFO	infectious disease	heartwater disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000960	"A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM." []	1148211	\N	\N	EFO	3	EFO	disease	heartwater disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000960	"A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM." []	2030484	\N	\N	EFO	4	EFO	disposition	heartwater disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000960	"A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM." []	3181151	\N	\N	EFO	5	EFO	material property	heartwater disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000960	"A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM." []	4389621	\N	\N	EFO	6	EFO	experimental factor	heartwater disease
EFO:1000961	\N	\N	"Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." []	EFO:1000961	"Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." []	70548	\N	\N	EFO	0	EFO	Helicobacter pylori infectious disease	Helicobacter pylori infectious disease
EFO:0000771	EFO:1000961	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1000961	"Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." []	213034	\N	\N	EFO	1	EFO	bacterial disease	Helicobacter pylori infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1000961	"Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." []	566793	\N	\N	EFO	2	EFO	infectious disease	Helicobacter pylori infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000961	"Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." []	1148212	\N	\N	EFO	3	EFO	disease	Helicobacter pylori infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000961	"Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." []	2030485	\N	\N	EFO	4	EFO	disposition	Helicobacter pylori infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000961	"Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." []	3181152	\N	\N	EFO	5	EFO	material property	Helicobacter pylori infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000961	"Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." []	4389622	\N	\N	EFO	6	EFO	experimental factor	Helicobacter pylori infectious disease
EFO:1000962	\N	\N	"Blood-filled UTERUS." []	EFO:1000962	"Blood-filled UTERUS." []	70549	\N	\N	EFO	0	EFO	hemometra	hemometra
EFO:0000512	EFO:1000962	\N	"any diease of the reproductive system" []	EFO:1000962	"Blood-filled UTERUS." []	213035	\N	\N	EFO	1	EFO	reproductive system disease	hemometra
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000962	"Blood-filled UTERUS." []	566794	\N	\N	EFO	2	EFO	disease	hemometra
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000962	"Blood-filled UTERUS." []	1148213	\N	\N	EFO	3	EFO	disposition	hemometra
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000962	"Blood-filled UTERUS." []	2030486	\N	\N	EFO	4	EFO	material property	hemometra
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000962	"Blood-filled UTERUS." []	3181153	\N	\N	EFO	5	EFO	experimental factor	hemometra
EFO:1000963	\N	\N	"Collection of air and blood in the pleural cavity." []	EFO:1000963	"Collection of air and blood in the pleural cavity." []	70550	\N	\N	EFO	0	EFO	hemopneumothorax	hemopneumothorax
EFO:0000684	EFO:1000963	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1000963	"Collection of air and blood in the pleural cavity." []	213036	\N	\N	EFO	1	EFO	respiratory system disease	hemopneumothorax
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000963	"Collection of air and blood in the pleural cavity." []	566795	\N	\N	EFO	2	EFO	disease	hemopneumothorax
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000963	"Collection of air and blood in the pleural cavity." []	1148214	\N	\N	EFO	3	EFO	disposition	hemopneumothorax
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000963	"Collection of air and blood in the pleural cavity." []	2030487	\N	\N	EFO	4	EFO	material property	hemopneumothorax
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000963	"Collection of air and blood in the pleural cavity." []	3181154	\N	\N	EFO	5	EFO	experimental factor	hemopneumothorax
EFO:1000964	\N	\N	"Hemorrhage caused by vitamin K deficiency." []	EFO:1000964	"Hemorrhage caused by vitamin K deficiency." []	70551	\N	\N	EFO	0	EFO	hemorrhagic disease of newborn	hemorrhagic disease of newborn
EFO:0001069	EFO:1000964	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1000964	"Hemorrhage caused by vitamin K deficiency." []	213037	\N	\N	EFO	1	EFO	nutritional disorder	hemorrhagic disease of newborn
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000964	"Hemorrhage caused by vitamin K deficiency." []	566796	\N	\N	EFO	2	EFO	metabolic disease	hemorrhagic disease of newborn
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000964	"Hemorrhage caused by vitamin K deficiency." []	1148215	\N	\N	EFO	3	EFO	disease	hemorrhagic disease of newborn
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000964	"Hemorrhage caused by vitamin K deficiency." []	2030488	\N	\N	EFO	4	EFO	disposition	hemorrhagic disease of newborn
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000964	"Hemorrhage caused by vitamin K deficiency." []	3181155	\N	\N	EFO	5	EFO	material property	hemorrhagic disease of newborn
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000964	"Hemorrhage caused by vitamin K deficiency." []	4389623	\N	\N	EFO	6	EFO	experimental factor	hemorrhagic disease of newborn
EFO:1000965	\N	\N	"A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections." []	EFO:1000965	"A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections." []	70552	\N	\N	EFO	0	EFO	Henoch-Schoenlein purpura	Henoch-Schoenlein purpura
EFO:0000540	EFO:1000965	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000965	"A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections." []	213038	\N	\N	EFO	1	EFO	immune system disease	Henoch-Schoenlein purpura
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000965	"A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections." []	566797	\N	\N	EFO	2	EFO	disease	Henoch-Schoenlein purpura
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000965	"A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections." []	1148216	\N	\N	EFO	3	EFO	disposition	Henoch-Schoenlein purpura
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000965	"A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections." []	2030489	\N	\N	EFO	4	EFO	material property	Henoch-Schoenlein purpura
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000965	"A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections." []	3181156	\N	\N	EFO	5	EFO	experimental factor	Henoch-Schoenlein purpura
EFO:1000966	\N	\N	"A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon." []	EFO:1000966	"A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon." []	70553	\N	\N	EFO	0	EFO	hepatic vein thrombosis	hepatic vein thrombosis
EFO:0004264	EFO:1000966	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000966	"A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon." []	213039	\N	\N	EFO	1	EFO	vascular disease	hepatic vein thrombosis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000966	"A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon." []	566798	\N	\N	EFO	2	EFO	cardiovascular disease	hepatic vein thrombosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000966	"A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon." []	1148217	\N	\N	EFO	3	EFO	disease	hepatic vein thrombosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000966	"A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon." []	2030490	\N	\N	EFO	4	EFO	disposition	hepatic vein thrombosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000966	"A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon." []	3181157	\N	\N	EFO	5	EFO	material property	hepatic vein thrombosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000966	"A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon." []	4389624	\N	\N	EFO	6	EFO	experimental factor	hepatic vein thrombosis
EFO:1000967	\N	\N	"A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410)" []	EFO:1000967	"A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410)" []	70554	\N	\N	EFO	0	EFO	hidrocystoma	hidrocystoma
EFO:0000616	EFO:1000967	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000967	"A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410)" []	213040	\N	\N	EFO	1	EFO	neoplasm	hidrocystoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000967	"A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410)" []	566799	\N	\N	EFO	2	EFO	disease	hidrocystoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000967	"A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410)" []	1148218	\N	\N	EFO	3	EFO	disposition	hidrocystoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000967	"A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410)" []	2030491	\N	\N	EFO	4	EFO	material property	hidrocystoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000967	"A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410)" []	3181158	\N	\N	EFO	5	EFO	experimental factor	hidrocystoma
EFO:1000968	\N	\N	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	70555	\N	\N	EFO	0	EFO	hydrophthalmos	hydrophthalmos
Orphanet:98976	EFO:1000968	\N	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	213041	\N	\N	EFO	1	EFO	Congenital glaucoma	hydrophthalmos
Orphanet:156005	Orphanet:98976	\N	"" []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	566800	\N	\N	EFO	2	EFO	Primary glaucoma	hydrophthalmos
Orphanet:359	Orphanet:156005	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	1148219	\N	\N	EFO	3	EFO	Hereditary glaucoma	hydrophthalmos
Orphanet:108985	Orphanet:359	\N	"" []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	2030492	\N	\N	EFO	4	EFO	Non-syndromic developmental defect of the eye	hydrophthalmos
Orphanet:183557	Orphanet:108985	\N	"" []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	3181159	\N	\N	EFO	5	EFO	Genetic developmental defect of the eye	hydrophthalmos
Orphanet:101435	Orphanet:183557	\N	"" []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	4389625	\N	\N	EFO	6	EFO	Rare genetic eye disease	hydrophthalmos
Orphanet:183530	Orphanet:183557	\N	"" []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	4389626	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	hydrophthalmos
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	5409381	\N	\N	EFO	7	EFO	genetic disorder	hydrophthalmos
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	5409382	\N	\N	EFO	7	EFO	eye disease	hydrophthalmos
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	5409383	\N	\N	EFO	7	EFO	genetic disorder	hydrophthalmos
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	6147643	\N	\N	EFO	8	EFO	disease	hydrophthalmos
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	6147644	\N	\N	EFO	8	EFO	disease	hydrophthalmos
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	6631877	\N	\N	EFO	9	EFO	disposition	hydrophthalmos
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	6925320	\N	\N	EFO	10	EFO	material property	hydrophthalmos
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000968	"Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical." []	7098994	\N	\N	EFO	11	EFO	experimental factor	hydrophthalmos
EFO:1000969	\N	\N	"A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes." []	EFO:1000969	"A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes." []	70556	\N	\N	EFO	0	EFO	hyperamylasemia	hyperamylasemia
EFO:0005803	EFO:1000969	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000969	"A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes." []	213042	\N	\N	EFO	1	EFO	hematological system disease	hyperamylasemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000969	"A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes." []	566801	\N	\N	EFO	2	EFO	disease	hyperamylasemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000969	"A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes." []	1148220	\N	\N	EFO	3	EFO	disposition	hyperamylasemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000969	"A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes." []	2030493	\N	\N	EFO	4	EFO	material property	hyperamylasemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000969	"A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes." []	3181160	\N	\N	EFO	5	EFO	experimental factor	hyperamylasemia
EFO:1000970	\N	\N	"A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" []	EFO:1000970	"A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" []	70557	\N	\N	EFO	0	EFO	hypercementosis	hypercementosis
EFO:1001216	EFO:1000970	\N	"Any disease of the teeth" []	EFO:1000970	"A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" []	213043	\N	\N	EFO	1	EFO	tooth disease	hypercementosis
EFO:1001047	EFO:1001216	\N	"Any disease of the oral cavity" []	EFO:1000970	"A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" []	566802	\N	\N	EFO	2	EFO	mouth disease	hypercementosis
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000970	"A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" []	1148221	\N	\N	EFO	3	EFO	digestive system disease	hypercementosis
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000970	"A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" []	1148222	\N	\N	EFO	3	EFO	head disease	hypercementosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000970	"A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" []	2030494	\N	\N	EFO	4	EFO	disease	hypercementosis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000970	"A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" []	2030495	\N	\N	EFO	4	EFO	disease	hypercementosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000970	"A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" []	3181161	\N	\N	EFO	5	EFO	disposition	hypercementosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000970	"A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" []	4389627	\N	\N	EFO	6	EFO	material property	hypercementosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000970	"A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" []	5409384	\N	\N	EFO	7	EFO	experimental factor	hypercementosis
EFO:1000971	\N	\N	"Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS." []	EFO:1000971	"Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS." []	70558	\N	\N	EFO	0	EFO	hyperemesis gravidarum	hyperemesis gravidarum
EFO:0000512	EFO:1000971	\N	"any diease of the reproductive system" []	EFO:1000971	"Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS." []	213044	\N	\N	EFO	1	EFO	reproductive system disease	hyperemesis gravidarum
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000971	"Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS." []	566803	\N	\N	EFO	2	EFO	disease	hyperemesis gravidarum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000971	"Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS." []	1148223	\N	\N	EFO	3	EFO	disposition	hyperemesis gravidarum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000971	"Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS." []	2030496	\N	\N	EFO	4	EFO	material property	hyperemesis gravidarum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000971	"Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS." []	3181162	\N	\N	EFO	5	EFO	experimental factor	hyperemesis gravidarum
EFO:1000972	\N	\N	"Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years." []	EFO:1000972	"Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years." []	70559	\N	\N	EFO	0	EFO	hyperglobulinemic purpura	hyperglobulinemic purpura
EFO:0000701	EFO:1000972	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000972	"Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years." []	213045	\N	\N	EFO	1	EFO	skin disease	hyperglobulinemic purpura
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000972	"Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years." []	566804	\N	\N	EFO	2	EFO	disease	hyperglobulinemic purpura
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000972	"Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years." []	1148224	\N	\N	EFO	3	EFO	disposition	hyperglobulinemic purpura
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000972	"Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years." []	2030497	\N	\N	EFO	4	EFO	material property	hyperglobulinemic purpura
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000972	"Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years." []	3181163	\N	\N	EFO	5	EFO	experimental factor	hyperglobulinemic purpura
EFO:1000973	\N	\N	"Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." []	EFO:1000973	"Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." []	70560	\N	\N	EFO	0	EFO	hyperpituitarism	hyperpituitarism
EFO:0001379	EFO:1000973	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000973	"Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." []	213046	\N	\N	EFO	1	EFO	endocrine system disease	hyperpituitarism
EFO:0005774	EFO:1000973	\N	"A disease affecting the brain or part of the brain." []	EFO:1000973	"Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." []	213047	\N	\N	EFO	1	EFO	brain disease	hyperpituitarism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000973	"Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." []	566805	\N	\N	EFO	2	EFO	disease	hyperpituitarism
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000973	"Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." []	566806	\N	\N	EFO	2	EFO	nervous system disease	hyperpituitarism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000973	"Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." []	2030499	\N	\N	EFO	4	EFO	disposition	hyperpituitarism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000973	"Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." []	1148226	\N	\N	EFO	3	EFO	disease	hyperpituitarism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000973	"Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." []	3000065	\N	\N	EFO	5	EFO	material property	hyperpituitarism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000973	"Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." []	4133076	\N	\N	EFO	6	EFO	experimental factor	hyperpituitarism
EFO:1000974	\N	\N	"Disorder characterized by a vasculitic syndrome associated with exposure to an antigen such as a drug, infectious agent, or other foreign or endogenous substance. Its pathophysiology includes immune complex deposition and a wide range of skin lesions. Hypersensitivity or allergy is present in some but not all cases." []	EFO:1000974	"Disorder characterized by a vasculitic syndrome associated with exposure to an antigen such as a drug, infectious agent, or other foreign or endogenous substance. Its pathophysiology includes immune complex deposition and a wide range of skin lesions. Hypersensitivity or allergy is present in some but not all cases." []	70561	\N	\N	EFO	0	EFO	hypersensitivity vasculitis	hypersensitivity vasculitis
EFO:1002003	EFO:1000974	\N	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	EFO:1000974	"Disorder characterized by a vasculitic syndrome associated with exposure to an antigen such as a drug, infectious agent, or other foreign or endogenous substance. Its pathophysiology includes immune complex deposition and a wide range of skin lesions. Hypersensitivity or allergy is present in some but not all cases." []	213048	\N	\N	EFO	1	EFO	hypersensitivity reaction disease	hypersensitivity vasculitis
EFO:0000540	EFO:1002003	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1000974	"Disorder characterized by a vasculitic syndrome associated with exposure to an antigen such as a drug, infectious agent, or other foreign or endogenous substance. Its pathophysiology includes immune complex deposition and a wide range of skin lesions. Hypersensitivity or allergy is present in some but not all cases." []	566807	\N	\N	EFO	2	EFO	immune system disease	hypersensitivity vasculitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000974	"Disorder characterized by a vasculitic syndrome associated with exposure to an antigen such as a drug, infectious agent, or other foreign or endogenous substance. Its pathophysiology includes immune complex deposition and a wide range of skin lesions. Hypersensitivity or allergy is present in some but not all cases." []	1148227	\N	\N	EFO	3	EFO	disease	hypersensitivity vasculitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000974	"Disorder characterized by a vasculitic syndrome associated with exposure to an antigen such as a drug, infectious agent, or other foreign or endogenous substance. Its pathophysiology includes immune complex deposition and a wide range of skin lesions. Hypersensitivity or allergy is present in some but not all cases." []	2030500	\N	\N	EFO	4	EFO	disposition	hypersensitivity vasculitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000974	"Disorder characterized by a vasculitic syndrome associated with exposure to an antigen such as a drug, infectious agent, or other foreign or endogenous substance. Its pathophysiology includes immune complex deposition and a wide range of skin lesions. Hypersensitivity or allergy is present in some but not all cases." []	3181165	\N	\N	EFO	5	EFO	material property	hypersensitivity vasculitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000974	"Disorder characterized by a vasculitic syndrome associated with exposure to an antigen such as a drug, infectious agent, or other foreign or endogenous substance. Its pathophysiology includes immune complex deposition and a wide range of skin lesions. Hypersensitivity or allergy is present in some but not all cases." []	4389628	\N	\N	EFO	6	EFO	experimental factor	hypersensitivity vasculitis
EFO:1000975	\N	\N	"Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." []	EFO:1000975	"Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." []	70562	\N	\N	EFO	0	EFO	hypersplenism	hypersplenism
EFO:0000405	EFO:1000975	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000975	"Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." []	213049	\N	\N	EFO	1	EFO	digestive system disease	hypersplenism
EFO:0005803	EFO:1000975	\N	"Disorders of the blood and blood forming tissues." []	EFO:1000975	"Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." []	213050	\N	\N	EFO	1	EFO	hematological system disease	hypersplenism
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000975	"Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." []	566808	\N	\N	EFO	2	EFO	disease	hypersplenism
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000975	"Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." []	566809	\N	\N	EFO	2	EFO	disease	hypersplenism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000975	"Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." []	1148228	\N	\N	EFO	3	EFO	disposition	hypersplenism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000975	"Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." []	2030501	\N	\N	EFO	4	EFO	material property	hypersplenism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000975	"Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." []	3181166	\N	\N	EFO	5	EFO	experimental factor	hypersplenism
EFO:1000976	\N	\N	"Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE." []	EFO:1000976	"Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE." []	70563	\N	\N	EFO	0	EFO	hypertensive encephalopathy	hypertensive encephalopathy
EFO:0001423	EFO:1000976	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:1000976	"Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE." []	213051	\N	\N	EFO	1	EFO	encephalomyelitis	hypertensive encephalopathy
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:1000976	"Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE." []	566810	\N	\N	EFO	2	EFO	central nervous system infection	hypertensive encephalopathy
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000976	"Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE." []	1148229	\N	\N	EFO	3	EFO	nervous system disease	hypertensive encephalopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000976	"Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE." []	2030502	\N	\N	EFO	4	EFO	disease	hypertensive encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000976	"Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE." []	3181167	\N	\N	EFO	5	EFO	disposition	hypertensive encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000976	"Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE." []	4389629	\N	\N	EFO	6	EFO	material property	hypertensive encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000976	"Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE." []	5409385	\N	\N	EFO	7	EFO	experimental factor	hypertensive encephalopathy
EFO:1000977	\N	\N	"Degenerative changes to the RETINA due to HYPERTENSION." []	EFO:1000977	"Degenerative changes to the RETINA due to HYPERTENSION." []	70564	\N	\N	EFO	0	EFO	hypertensive retinopathy	hypertensive retinopathy
EFO:0003839	EFO:1000977	\N	"Any disease or disorder of the retina." []	EFO:1000977	"Degenerative changes to the RETINA due to HYPERTENSION." []	213052	\N	\N	EFO	1	EFO	retinopathy	hypertensive retinopathy
EFO:0000524	EFO:0003839	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000977	"Degenerative changes to the RETINA due to HYPERTENSION." []	566811	\N	\N	EFO	2	EFO	head disease	hypertensive retinopathy
EFO:0003966	EFO:0003839	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000977	"Degenerative changes to the RETINA due to HYPERTENSION." []	566812	\N	\N	EFO	2	EFO	eye disease	hypertensive retinopathy
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000977	"Degenerative changes to the RETINA due to HYPERTENSION." []	1148230	\N	\N	EFO	3	EFO	disease	hypertensive retinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000977	"Degenerative changes to the RETINA due to HYPERTENSION." []	1148231	\N	\N	EFO	3	EFO	disease	hypertensive retinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000977	"Degenerative changes to the RETINA due to HYPERTENSION." []	2030503	\N	\N	EFO	4	EFO	disposition	hypertensive retinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000977	"Degenerative changes to the RETINA due to HYPERTENSION." []	3181168	\N	\N	EFO	5	EFO	material property	hypertensive retinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000977	"Degenerative changes to the RETINA due to HYPERTENSION." []	4389630	\N	\N	EFO	6	EFO	experimental factor	hypertensive retinopathy
EFO:1000978	\N	\N	"A symptom complex resulting from ingesting excessive amounts of VITAMIN A." []	EFO:1000978	"A symptom complex resulting from ingesting excessive amounts of VITAMIN A." []	70565	\N	\N	EFO	0	EFO	hypervitaminosis A	hypervitaminosis A
EFO:0001069	EFO:1000978	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1000978	"A symptom complex resulting from ingesting excessive amounts of VITAMIN A." []	213053	\N	\N	EFO	1	EFO	nutritional disorder	hypervitaminosis A
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1000978	"A symptom complex resulting from ingesting excessive amounts of VITAMIN A." []	566813	\N	\N	EFO	2	EFO	metabolic disease	hypervitaminosis A
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000978	"A symptom complex resulting from ingesting excessive amounts of VITAMIN A." []	1148232	\N	\N	EFO	3	EFO	disease	hypervitaminosis A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000978	"A symptom complex resulting from ingesting excessive amounts of VITAMIN A." []	2030504	\N	\N	EFO	4	EFO	disposition	hypervitaminosis A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000978	"A symptom complex resulting from ingesting excessive amounts of VITAMIN A." []	3181169	\N	\N	EFO	5	EFO	material property	hypervitaminosis A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000978	"A symptom complex resulting from ingesting excessive amounts of VITAMIN A." []	4389631	\N	\N	EFO	6	EFO	experimental factor	hypervitaminosis A
EFO:1000979	\N	\N	"Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" []	EFO:1000979	"Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" []	70566	\N	\N	EFO	0	EFO	hypothalamic neoplasm	hypothalamic neoplasm
EFO:0003833	EFO:1000979	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1000979	"Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" []	213054	\N	\N	EFO	1	EFO	brain neoplasm	hypothalamic neoplasm
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000979	"Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" []	566814	\N	\N	EFO	2	EFO	neoplasm	hypothalamic neoplasm
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1000979	"Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" []	566815	\N	\N	EFO	2	EFO	brain disease	hypothalamic neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000979	"Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" []	1148233	\N	\N	EFO	3	EFO	disease	hypothalamic neoplasm
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000979	"Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" []	1148234	\N	\N	EFO	3	EFO	nervous system disease	hypothalamic neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000979	"Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" []	3181171	\N	\N	EFO	5	EFO	disposition	hypothalamic neoplasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000979	"Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" []	2030506	\N	\N	EFO	4	EFO	disease	hypothalamic neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000979	"Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" []	4133077	\N	\N	EFO	6	EFO	material property	hypothalamic neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000979	"Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" []	5181319	\N	\N	EFO	7	EFO	experimental factor	hypothalamic neoplasm
EFO:1000980	\N	\N	"A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" []	EFO:1000980	"A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" []	70567	\N	\N	EFO	0	EFO	ideomotor apraxia	ideomotor apraxia
EFO:0000618	EFO:1000980	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000980	"A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" []	213055	\N	\N	EFO	1	EFO	nervous system disease	ideomotor apraxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000980	"A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" []	566816	\N	\N	EFO	2	EFO	disease	ideomotor apraxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000980	"A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" []	1148235	\N	\N	EFO	3	EFO	disposition	ideomotor apraxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000980	"A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" []	2030507	\N	\N	EFO	4	EFO	material property	ideomotor apraxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000980	"A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" []	3181172	\N	\N	EFO	5	EFO	experimental factor	ideomotor apraxia
EFO:1000981	\N	\N	"Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)." []	EFO:1000981	"Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)." []	70568	\N	\N	EFO	0	EFO	ileal neoplasm	ileal neoplasm
EFO:0000405	EFO:1000981	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000981	"Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)." []	213056	\N	\N	EFO	1	EFO	digestive system disease	ileal neoplasm
EFO:0000616	EFO:1000981	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000981	"Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)." []	213057	\N	\N	EFO	1	EFO	neoplasm	ileal neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000981	"Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)." []	566817	\N	\N	EFO	2	EFO	disease	ileal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000981	"Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)." []	566818	\N	\N	EFO	2	EFO	disease	ileal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000981	"Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)." []	1148236	\N	\N	EFO	3	EFO	disposition	ileal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000981	"Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)." []	2030508	\N	\N	EFO	4	EFO	material property	ileal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000981	"Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)." []	3181173	\N	\N	EFO	5	EFO	experimental factor	ileal neoplasm
EFO:1000982	\N	\N	"A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced." []	EFO:1000982	"A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced." []	70569	\N	\N	EFO	0	EFO	inappropriate ADH syndrome	inappropriate ADH syndrome
EFO:0001379	EFO:1000982	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1000982	"A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced." []	213058	\N	\N	EFO	1	EFO	endocrine system disease	inappropriate ADH syndrome
EFO:0005774	EFO:1000982	\N	"A disease affecting the brain or part of the brain." []	EFO:1000982	"A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced." []	213059	\N	\N	EFO	1	EFO	brain disease	inappropriate ADH syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000982	"A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced." []	566819	\N	\N	EFO	2	EFO	disease	inappropriate ADH syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000982	"A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced." []	566820	\N	\N	EFO	2	EFO	nervous system disease	inappropriate ADH syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000982	"A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced." []	2030510	\N	\N	EFO	4	EFO	disposition	inappropriate ADH syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000982	"A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced." []	1148238	\N	\N	EFO	3	EFO	disease	inappropriate ADH syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000982	"A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced." []	3000066	\N	\N	EFO	5	EFO	material property	inappropriate ADH syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000982	"A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced." []	4133078	\N	\N	EFO	6	EFO	experimental factor	inappropriate ADH syndrome
EFO:1000983	\N	\N	"MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." []	EFO:1000983	"MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." []	70570	\N	\N	EFO	0	EFO	inferior myocardial infarction	inferior myocardial infarction
EFO:0000612	EFO:1000983	\N	"NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)." []	EFO:1000983	"MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." []	213060	\N	\N	EFO	1	EFO	myocardial infarction	inferior myocardial infarction
EFO:0003777	EFO:0000612	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000983	"MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." []	566821	\N	\N	EFO	2	EFO	heart disease	inferior myocardial infarction
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000983	"MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." []	1148239	\N	\N	EFO	3	EFO	cardiovascular disease	inferior myocardial infarction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000983	"MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." []	2030511	\N	\N	EFO	4	EFO	disease	inferior myocardial infarction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000983	"MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." []	3181175	\N	\N	EFO	5	EFO	disposition	inferior myocardial infarction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000983	"MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." []	4389633	\N	\N	EFO	6	EFO	material property	inferior myocardial infarction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000983	"MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." []	5409386	\N	\N	EFO	7	EFO	experimental factor	inferior myocardial infarction
EFO:1000984	\N	\N	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	70571	\N	\N	EFO	0	EFO	inflammatory breast carcinoma	inflammatory breast carcinoma
EFO:0000304	EFO:1000984	\N	"The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. " []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	213061	\N	\N	EFO	1	EFO	breast adenocarcinoma	inflammatory breast carcinoma
EFO:0000228	EFO:0000304	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	566822	\N	\N	EFO	2	EFO	adenocarcinoma	inflammatory breast carcinoma
EFO:0000305	EFO:0000304	\N	"Tumors or cancer of the human BREAST." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	566823	\N	\N	EFO	2	EFO	breast carcinoma	inflammatory breast carcinoma
EFO:0003869	EFO:0000304	\N	"Abnormal growth located in the breast or mammory gland." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	566824	\N	\N	EFO	2	EFO	breast neoplasm	inflammatory breast carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	1148240	\N	\N	EFO	3	EFO	carcinoma	inflammatory breast carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	1148241	\N	\N	EFO	3	EFO	carcinoma	inflammatory breast carcinoma
EFO:0000616	EFO:0003869	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	1148242	\N	\N	EFO	3	EFO	neoplasm	inflammatory breast carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	2030512	\N	\N	EFO	4	EFO	cancer	inflammatory breast carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	2030513	\N	\N	EFO	4	EFO	epithelial neoplasm	inflammatory breast carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	4389634	\N	\N	EFO	6	EFO	disease	inflammatory breast carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	3181176	\N	\N	EFO	5	EFO	neoplasm	inflammatory breast carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	3181177	\N	\N	EFO	5	EFO	neoplasm	inflammatory breast carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	5059502	\N	\N	EFO	7	EFO	disposition	inflammatory breast carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	5876654	\N	\N	EFO	8	EFO	material property	inflammatory breast carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000984	"Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []	6469872	\N	\N	EFO	9	EFO	experimental factor	inflammatory breast carcinoma
EFO:1000985	\N	\N	"Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." []	EFO:1000985	"Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." []	70572	\N	\N	EFO	0	EFO	intermediate coronary syndrome	intermediate coronary syndrome
EFO:0000378	EFO:1000985	\N	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	EFO:1000985	"Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." []	213062	\N	\N	EFO	1	EFO	coronary artery disease	intermediate coronary syndrome
EFO:0001645	EFO:0000378	\N	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	EFO:1000985	"Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." []	566825	\N	\N	EFO	2	EFO	coronary heart disease	intermediate coronary syndrome
EFO:0003777	EFO:0001645	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1000985	"Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." []	1148243	\N	\N	EFO	3	EFO	heart disease	intermediate coronary syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000985	"Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." []	2030515	\N	\N	EFO	4	EFO	cardiovascular disease	intermediate coronary syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000985	"Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." []	3181179	\N	\N	EFO	5	EFO	disease	intermediate coronary syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000985	"Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." []	4389636	\N	\N	EFO	6	EFO	disposition	intermediate coronary syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000985	"Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." []	5409388	\N	\N	EFO	7	EFO	material property	intermediate coronary syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000985	"Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." []	6147645	\N	\N	EFO	8	EFO	experimental factor	intermediate coronary syndrome
EFO:1000986	\N	\N	"Inflammation of the pars plana, ciliary body, and adjacent structures." []	EFO:1000986	"Inflammation of the pars plana, ciliary body, and adjacent structures." []	70573	\N	\N	EFO	0	EFO	intermediate uveitis	intermediate uveitis
EFO:1001231	EFO:1000986	\N	"inflammation of one or all portions of the uveal tract" []	EFO:1000986	"Inflammation of the pars plana, ciliary body, and adjacent structures." []	213063	\N	\N	EFO	1	EFO	uveitis	intermediate uveitis
EFO:0003966	EFO:1001231	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000986	"Inflammation of the pars plana, ciliary body, and adjacent structures." []	566826	\N	\N	EFO	2	EFO	eye disease	intermediate uveitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000986	"Inflammation of the pars plana, ciliary body, and adjacent structures." []	1148244	\N	\N	EFO	3	EFO	disease	intermediate uveitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000986	"Inflammation of the pars plana, ciliary body, and adjacent structures." []	2030516	\N	\N	EFO	4	EFO	disposition	intermediate uveitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000986	"Inflammation of the pars plana, ciliary body, and adjacent structures." []	3181180	\N	\N	EFO	5	EFO	material property	intermediate uveitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000986	"Inflammation of the pars plana, ciliary body, and adjacent structures." []	4389637	\N	\N	EFO	6	EFO	experimental factor	intermediate uveitis
EFO:1000987	\N	\N	"Opening or penetration through the wall of the INTESTINES." []	EFO:1000987	"Opening or penetration through the wall of the INTESTINES." []	70574	\N	\N	EFO	0	EFO	intestinal perforation	intestinal perforation
EFO:0000405	EFO:1000987	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000987	"Opening or penetration through the wall of the INTESTINES." []	213064	\N	\N	EFO	1	EFO	digestive system disease	intestinal perforation
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000987	"Opening or penetration through the wall of the INTESTINES." []	566827	\N	\N	EFO	2	EFO	disease	intestinal perforation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000987	"Opening or penetration through the wall of the INTESTINES." []	1148245	\N	\N	EFO	3	EFO	disposition	intestinal perforation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000987	"Opening or penetration through the wall of the INTESTINES." []	2030517	\N	\N	EFO	4	EFO	material property	intestinal perforation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000987	"Opening or penetration through the wall of the INTESTINES." []	3181181	\N	\N	EFO	5	EFO	experimental factor	intestinal perforation
EFO:1000988	\N	\N	"A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM." []	EFO:1000988	"A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM." []	70575	\N	\N	EFO	0	EFO	intestinal pseudo-obstruction	intestinal pseudo-obstruction
HP:0004796	\N	\N	"" []	EFO:1000988	"A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM." []	194950	\N	\N	EFO	0	EFO	Gastrointestinal obstruction	intestinal pseudo-obstruction
EFO:1000989	\N	\N	"A twisting in the intestine (INTESTINES) that can cause INTESTINAL OBSTRUCTION." []	EFO:1000989	"A twisting in the intestine (INTESTINES) that can cause INTESTINAL OBSTRUCTION." []	70576	\N	\N	EFO	0	EFO	intestinal volvulus	intestinal volvulus
HP:0004796	\N	\N	"" []	EFO:1000989	"A twisting in the intestine (INTESTINES) that can cause INTESTINAL OBSTRUCTION." []	194951	\N	\N	EFO	0	EFO	Gastrointestinal obstruction	intestinal volvulus
EFO:0000405	EFO:1000989	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000989	"A twisting in the intestine (INTESTINES) that can cause INTESTINAL OBSTRUCTION." []	213065	\N	\N	EFO	1	EFO	digestive system disease	intestinal volvulus
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000989	"A twisting in the intestine (INTESTINES) that can cause INTESTINAL OBSTRUCTION." []	566828	\N	\N	EFO	2	EFO	disease	intestinal volvulus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000989	"A twisting in the intestine (INTESTINES) that can cause INTESTINAL OBSTRUCTION." []	1148246	\N	\N	EFO	3	EFO	disposition	intestinal volvulus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000989	"A twisting in the intestine (INTESTINES) that can cause INTESTINAL OBSTRUCTION." []	2030518	\N	\N	EFO	4	EFO	material property	intestinal volvulus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000989	"A twisting in the intestine (INTESTINES) that can cause INTESTINAL OBSTRUCTION." []	3181182	\N	\N	EFO	5	EFO	experimental factor	intestinal volvulus
EFO:1000990	\N	\N	"Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." []	EFO:1000990	"Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." []	70577	\N	\N	EFO	0	EFO	intracranial arterial disease	intracranial arterial disease
EFO:0003763	EFO:1000990	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1000990	"Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." []	213066	\N	\N	EFO	1	EFO	cerebrovascular disorder	intracranial arterial disease
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000990	"Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." []	566829	\N	\N	EFO	2	EFO	vascular disease	intracranial arterial disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000990	"Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." []	1148247	\N	\N	EFO	3	EFO	cardiovascular disease	intracranial arterial disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000990	"Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." []	2030519	\N	\N	EFO	4	EFO	disease	intracranial arterial disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000990	"Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." []	3181183	\N	\N	EFO	5	EFO	disposition	intracranial arterial disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000990	"Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." []	4389638	\N	\N	EFO	6	EFO	material property	intracranial arterial disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000990	"Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." []	5409389	\N	\N	EFO	7	EFO	experimental factor	intracranial arterial disease
EFO:1000991	\N	\N	"Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." []	EFO:1000991	"Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." []	70578	\N	\N	EFO	0	EFO	intracranial embolism	intracranial embolism
EFO:0003763	EFO:1000991	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1000991	"Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." []	213067	\N	\N	EFO	1	EFO	cerebrovascular disorder	intracranial embolism
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000991	"Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." []	566830	\N	\N	EFO	2	EFO	vascular disease	intracranial embolism
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000991	"Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." []	1148248	\N	\N	EFO	3	EFO	cardiovascular disease	intracranial embolism
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000991	"Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." []	2030520	\N	\N	EFO	4	EFO	disease	intracranial embolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000991	"Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." []	3181184	\N	\N	EFO	5	EFO	disposition	intracranial embolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000991	"Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." []	4389639	\N	\N	EFO	6	EFO	material property	intracranial embolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000991	"Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." []	5409390	\N	\N	EFO	7	EFO	experimental factor	intracranial embolism
EFO:1000992	\N	\N	"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." []	EFO:1000992	"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." []	70579	\N	\N	EFO	0	EFO	intracranial hypertension	intracranial hypertension
EFO:0000537	EFO:1000992	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:1000992	"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." []	213068	\N	\N	EFO	1	EFO	hypertension	intracranial hypertension
EFO:0005774	EFO:1000992	\N	"A disease affecting the brain or part of the brain." []	EFO:1000992	"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." []	213069	\N	\N	EFO	1	EFO	brain disease	intracranial hypertension
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000992	"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." []	566831	\N	\N	EFO	2	EFO	cardiovascular disease	intracranial hypertension
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000992	"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." []	566832	\N	\N	EFO	2	EFO	nervous system disease	intracranial hypertension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000992	"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." []	1148249	\N	\N	EFO	3	EFO	disease	intracranial hypertension
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000992	"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." []	1148250	\N	\N	EFO	3	EFO	disease	intracranial hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000992	"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." []	2030521	\N	\N	EFO	4	EFO	disposition	intracranial hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000992	"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." []	3181185	\N	\N	EFO	5	EFO	material property	intracranial hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000992	"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." []	4389640	\N	\N	EFO	6	EFO	experimental factor	intracranial hypertension
EFO:1000993	\N	\N	"Reduction of CEREBROSPINAL FLUID pressure characterized clinically by HEADACHE which is maximal in an upright posture and occasionally by an abducens nerve palsy (see ABDUCENS NERVE DISEASES), neck stiffness, hearing loss (see DEAFNESS); NAUSEA; and other symptoms. This condition may be spontaneous or secondary to SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" []	EFO:1000993	"Reduction of CEREBROSPINAL FLUID pressure characterized clinically by HEADACHE which is maximal in an upright posture and occasionally by an abducens nerve palsy (see ABDUCENS NERVE DISEASES), neck stiffness, hearing loss (see DEAFNESS); NAUSEA; and other symptoms. This condition may be spontaneous or secondary to SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" []	70580	\N	\N	EFO	0	EFO	intracranial hypotension	intracranial hypotension
EFO:0005774	EFO:1000993	\N	"A disease affecting the brain or part of the brain." []	EFO:1000993	"Reduction of CEREBROSPINAL FLUID pressure characterized clinically by HEADACHE which is maximal in an upright posture and occasionally by an abducens nerve palsy (see ABDUCENS NERVE DISEASES), neck stiffness, hearing loss (see DEAFNESS); NAUSEA; and other symptoms. This condition may be spontaneous or secondary to SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" []	213070	\N	\N	EFO	1	EFO	brain disease	intracranial hypotension
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1000993	"Reduction of CEREBROSPINAL FLUID pressure characterized clinically by HEADACHE which is maximal in an upright posture and occasionally by an abducens nerve palsy (see ABDUCENS NERVE DISEASES), neck stiffness, hearing loss (see DEAFNESS); NAUSEA; and other symptoms. This condition may be spontaneous or secondary to SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" []	566833	\N	\N	EFO	2	EFO	nervous system disease	intracranial hypotension
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000993	"Reduction of CEREBROSPINAL FLUID pressure characterized clinically by HEADACHE which is maximal in an upright posture and occasionally by an abducens nerve palsy (see ABDUCENS NERVE DISEASES), neck stiffness, hearing loss (see DEAFNESS); NAUSEA; and other symptoms. This condition may be spontaneous or secondary to SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" []	1148251	\N	\N	EFO	3	EFO	disease	intracranial hypotension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000993	"Reduction of CEREBROSPINAL FLUID pressure characterized clinically by HEADACHE which is maximal in an upright posture and occasionally by an abducens nerve palsy (see ABDUCENS NERVE DISEASES), neck stiffness, hearing loss (see DEAFNESS); NAUSEA; and other symptoms. This condition may be spontaneous or secondary to SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" []	2030522	\N	\N	EFO	4	EFO	disposition	intracranial hypotension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000993	"Reduction of CEREBROSPINAL FLUID pressure characterized clinically by HEADACHE which is maximal in an upright posture and occasionally by an abducens nerve palsy (see ABDUCENS NERVE DISEASES), neck stiffness, hearing loss (see DEAFNESS); NAUSEA; and other symptoms. This condition may be spontaneous or secondary to SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" []	3181186	\N	\N	EFO	5	EFO	material property	intracranial hypotension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000993	"Reduction of CEREBROSPINAL FLUID pressure characterized clinically by HEADACHE which is maximal in an upright posture and occasionally by an abducens nerve palsy (see ABDUCENS NERVE DISEASES), neck stiffness, hearing loss (see DEAFNESS); NAUSEA; and other symptoms. This condition may be spontaneous or secondary to SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" []	4389641	\N	\N	EFO	6	EFO	experimental factor	intracranial hypotension
EFO:1000994	\N	\N	"Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." []	EFO:1000994	"Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." []	70581	\N	\N	EFO	0	EFO	intracranial vasospasm	intracranial vasospasm
EFO:0003763	EFO:1000994	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1000994	"Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." []	213071	\N	\N	EFO	1	EFO	cerebrovascular disorder	intracranial vasospasm
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1000994	"Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." []	566834	\N	\N	EFO	2	EFO	vascular disease	intracranial vasospasm
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1000994	"Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." []	1148252	\N	\N	EFO	3	EFO	cardiovascular disease	intracranial vasospasm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000994	"Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." []	2030523	\N	\N	EFO	4	EFO	disease	intracranial vasospasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000994	"Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." []	3181187	\N	\N	EFO	5	EFO	disposition	intracranial vasospasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000994	"Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." []	4389642	\N	\N	EFO	6	EFO	material property	intracranial vasospasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000994	"Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." []	5409391	\N	\N	EFO	7	EFO	experimental factor	intracranial vasospasm
EFO:1000995	\N	\N	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	EFO:1000995	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	70582	\N	\N	EFO	0	EFO	intradermal nevus	intradermal nevus
EFO:0000625	EFO:1000995	\N	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	EFO:1000995	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	213072	\N	\N	EFO	1	EFO	nevus	intradermal nevus
EFO:0002422	EFO:0000625	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1000995	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	566835	\N	\N	EFO	2	EFO	benign neoplasm	intradermal nevus
EFO:0004198	EFO:0000625	\N	"Tumors or cancer of the SKIN." []	EFO:1000995	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	566836	\N	\N	EFO	2	EFO	skin neoplasm	intradermal nevus
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000995	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	1148253	\N	\N	EFO	3	EFO	neoplasm	intradermal nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000995	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	1148254	\N	\N	EFO	3	EFO	neoplasm	intradermal nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1000995	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	1148255	\N	\N	EFO	3	EFO	skin disease	intradermal nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000995	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	2030524	\N	\N	EFO	4	EFO	disease	intradermal nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000995	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	2030525	\N	\N	EFO	4	EFO	disease	intradermal nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000995	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	3181188	\N	\N	EFO	5	EFO	disposition	intradermal nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000995	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	4389643	\N	\N	EFO	6	EFO	material property	intradermal nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000995	"A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" []	5409392	\N	\N	EFO	7	EFO	experimental factor	intradermal nevus
EFO:1000996	\N	\N	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	70583	\N	\N	EFO	0	EFO	iris cancer	iris cancer
EFO:0003824	EFO:1000996	\N	"Tumors or cancer of the EYE." []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	213073	\N	\N	EFO	1	EFO	eye neoplasm	iris cancer
EFO:0005950	EFO:1000996	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	213074	\N	\N	EFO	1	EFO	head and neck neoplasia	iris cancer
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	566837	\N	\N	EFO	2	EFO	neoplasm	iris cancer
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	566838	\N	\N	EFO	2	EFO	eye disease	iris cancer
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	566839	\N	\N	EFO	2	EFO	head disease	iris cancer
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	566840	\N	\N	EFO	2	EFO	neoplasm	iris cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	1148256	\N	\N	EFO	3	EFO	disease	iris cancer
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	1148257	\N	\N	EFO	3	EFO	disease	iris cancer
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	1148258	\N	\N	EFO	3	EFO	disease	iris cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	2030526	\N	\N	EFO	4	EFO	disposition	iris cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	3181189	\N	\N	EFO	5	EFO	material property	iris cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000996	"Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []	4389644	\N	\N	EFO	6	EFO	experimental factor	iris cancer
EFO:1000997	\N	\N	"Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris." []	EFO:1000997	"Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris." []	70584	\N	\N	EFO	0	EFO	iritis	iritis
EFO:0003966	EFO:1000997	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1000997	"Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris." []	213075	\N	\N	EFO	1	EFO	eye disease	iritis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000997	"Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris." []	566841	\N	\N	EFO	2	EFO	disease	iritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000997	"Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris." []	1148259	\N	\N	EFO	3	EFO	disposition	iritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000997	"Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris." []	2030527	\N	\N	EFO	4	EFO	material property	iritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000997	"Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris." []	3181190	\N	\N	EFO	5	EFO	experimental factor	iritis
EFO:1000998	\N	\N	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	70585	\N	\N	EFO	0	EFO	jejunal cancer	jejunal cancer
EFO:0005588	EFO:1000998	\N	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	213076	\N	\N	EFO	1	EFO	small intestine carcinoma	jejunal cancer
EFO:0000313	EFO:0005588	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	566842	\N	\N	EFO	2	EFO	carcinoma	jejunal cancer
EFO:0000405	EFO:0005588	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	566843	\N	\N	EFO	2	EFO	digestive system disease	jejunal cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	1148260	\N	\N	EFO	3	EFO	cancer	jejunal cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	1148261	\N	\N	EFO	3	EFO	epithelial neoplasm	jejunal cancer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	1148262	\N	\N	EFO	3	EFO	disease	jejunal cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	2030528	\N	\N	EFO	4	EFO	neoplasm	jejunal cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	2030529	\N	\N	EFO	4	EFO	neoplasm	jejunal cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	4389645	\N	\N	EFO	6	EFO	disposition	jejunal cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	3181191	\N	\N	EFO	5	EFO	disease	jejunal cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	5059503	\N	\N	EFO	7	EFO	material property	jejunal cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000998	"Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." []	5876655	\N	\N	EFO	8	EFO	experimental factor	jejunal cancer
EFO:1000999	\N	\N	"Any disorder of the joints" []	EFO:1000999	"Any disorder of the joints" []	70586	\N	\N	EFO	0	EFO	joint disease	joint disease
EFO:0002461	EFO:1000999	\N	"Any disease which affects part of the skeletal system." []	EFO:1000999	"Any disorder of the joints" []	213077	\N	\N	EFO	1	EFO	skeletal system disease	joint disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1000999	"Any disorder of the joints" []	566844	\N	\N	EFO	2	EFO	disease	joint disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1000999	"Any disorder of the joints" []	1148263	\N	\N	EFO	3	EFO	disposition	joint disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1000999	"Any disorder of the joints" []	2030531	\N	\N	EFO	4	EFO	material property	joint disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1000999	"Any disorder of the joints" []	3181193	\N	\N	EFO	5	EFO	experimental factor	joint disease
EFO:1001000	\N	\N	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	70587	\N	\N	EFO	0	EFO	juxtacortical osteosarcoma	juxtacortical osteosarcoma
EFO:0000637	EFO:1001000	\N	"A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	213078	\N	\N	EFO	1	EFO	osteosarcoma	juxtacortical osteosarcoma
EFO:0000691	EFO:0000637	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	566845	\N	\N	EFO	2	EFO	sarcoma	juxtacortical osteosarcoma
EFO:0003820	EFO:0000637	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	566846	\N	\N	EFO	2	EFO	bone neoplasm	juxtacortical osteosarcoma
EFO:0004260	EFO:0000637	\N	"Diseases of BONES." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	566847	\N	\N	EFO	2	EFO	bone disease	juxtacortical osteosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	1148264	\N	\N	EFO	3	EFO	cancer	juxtacortical osteosarcoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	1148265	\N	\N	EFO	3	EFO	neoplasm	juxtacortical osteosarcoma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	1148266	\N	\N	EFO	3	EFO	skeletal system disease	juxtacortical osteosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	2030532	\N	\N	EFO	4	EFO	neoplasm	juxtacortical osteosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	3181194	\N	\N	EFO	5	EFO	disease	juxtacortical osteosarcoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	2030534	\N	\N	EFO	4	EFO	disease	juxtacortical osteosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	4133079	\N	\N	EFO	6	EFO	disposition	juxtacortical osteosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	5181320	\N	\N	EFO	7	EFO	material property	juxtacortical osteosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001000	"A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []	5996748	\N	\N	EFO	8	EFO	experimental factor	juxtacortical osteosarcoma
EFO:1001001	\N	\N	"Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." []	EFO:1001001	"Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." []	70588	\N	\N	EFO	0	EFO	keratoconjunctivitis sicca	keratoconjunctivitis sicca
EFO:0000524	EFO:1001001	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001001	"Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." []	213079	\N	\N	EFO	1	EFO	head disease	keratoconjunctivitis sicca
EFO:0003966	EFO:1001001	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001001	"Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." []	213080	\N	\N	EFO	1	EFO	eye disease	keratoconjunctivitis sicca
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001001	"Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." []	566848	\N	\N	EFO	2	EFO	disease	keratoconjunctivitis sicca
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001001	"Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." []	566849	\N	\N	EFO	2	EFO	disease	keratoconjunctivitis sicca
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001001	"Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." []	1148267	\N	\N	EFO	3	EFO	disposition	keratoconjunctivitis sicca
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001001	"Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." []	2030535	\N	\N	EFO	4	EFO	material property	keratoconjunctivitis sicca
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001001	"Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." []	3181196	\N	\N	EFO	5	EFO	experimental factor	keratoconjunctivitis sicca
EFO:1001002	\N	\N	"A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)" []	EFO:1001002	"A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)" []	70589	\N	\N	EFO	0	EFO	kernicterus	kernicterus
EFO:0005774	EFO:1001002	\N	"A disease affecting the brain or part of the brain." []	EFO:1001002	"A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)" []	213081	\N	\N	EFO	1	EFO	brain disease	kernicterus
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001002	"A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)" []	566850	\N	\N	EFO	2	EFO	nervous system disease	kernicterus
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001002	"A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)" []	1148268	\N	\N	EFO	3	EFO	disease	kernicterus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001002	"A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)" []	2030536	\N	\N	EFO	4	EFO	disposition	kernicterus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001002	"A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)" []	3181197	\N	\N	EFO	5	EFO	material property	kernicterus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001002	"A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)" []	4389648	\N	\N	EFO	6	EFO	experimental factor	kernicterus
EFO:1001003	\N	\N	"Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity." []	EFO:1001003	"Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity." []	70590	\N	\N	EFO	0	EFO	kidney cortex necrosis	kidney cortex necrosis
EFO:0003086	EFO:1001003	\N	"A disease affecting the kidneys" []	EFO:1001003	"Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity." []	213082	\N	\N	EFO	1	EFO	kidney disease	kidney cortex necrosis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001003	"Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity." []	566851	\N	\N	EFO	2	EFO	disease	kidney cortex necrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001003	"Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity." []	1148269	\N	\N	EFO	3	EFO	disposition	kidney cortex necrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001003	"Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity." []	2030537	\N	\N	EFO	4	EFO	material property	kidney cortex necrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001003	"Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity." []	3181198	\N	\N	EFO	5	EFO	experimental factor	kidney cortex necrosis
EFO:1001004	\N	\N	"A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE." []	EFO:1001004	"A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE." []	70591	\N	\N	EFO	0	EFO	kidney papillary necrosis	kidney papillary necrosis
EFO:0003086	EFO:1001004	\N	"A disease affecting the kidneys" []	EFO:1001004	"A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE." []	213083	\N	\N	EFO	1	EFO	kidney disease	kidney papillary necrosis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001004	"A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE." []	566852	\N	\N	EFO	2	EFO	disease	kidney papillary necrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001004	"A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE." []	1148270	\N	\N	EFO	3	EFO	disposition	kidney papillary necrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001004	"A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE." []	2030538	\N	\N	EFO	4	EFO	material property	kidney papillary necrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001004	"A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE." []	3181199	\N	\N	EFO	5	EFO	experimental factor	kidney papillary necrosis
EFO:1001005	\N	\N	"Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." []	EFO:1001005	"Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." []	70592	\N	\N	EFO	0	EFO	Klatskin's tumor	Klatskin's tumor
EFO:0005221	EFO:1001005	\N	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	EFO:1001005	"Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." []	213084	\N	\N	EFO	1	EFO	cholangiocarcinoma	Klatskin's tumor
EFO:0000313	EFO:0005221	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001005	"Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." []	566853	\N	\N	EFO	2	EFO	carcinoma	Klatskin's tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001005	"Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." []	1148271	\N	\N	EFO	3	EFO	cancer	Klatskin's tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001005	"Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." []	1148272	\N	\N	EFO	3	EFO	epithelial neoplasm	Klatskin's tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001005	"Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." []	2030539	\N	\N	EFO	4	EFO	neoplasm	Klatskin's tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001005	"Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." []	2030540	\N	\N	EFO	4	EFO	neoplasm	Klatskin's tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001005	"Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." []	3181200	\N	\N	EFO	5	EFO	disease	Klatskin's tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001005	"Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." []	4389649	\N	\N	EFO	6	EFO	disposition	Klatskin's tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001005	"Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." []	5409394	\N	\N	EFO	7	EFO	material property	Klatskin's tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001005	"Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing." []	6147646	\N	\N	EFO	8	EFO	experimental factor	Klatskin's tumor
EFO:1001006	\N	\N	"A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.)." []	EFO:1001006	"A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.)." []	70593	\N	\N	EFO	0	EFO	Klinefelter's syndrome	Klinefelter's syndrome
EFO:0000508	EFO:1001006	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001006	"A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.)." []	213085	\N	\N	EFO	1	EFO	genetic disorder	Klinefelter's syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001006	"A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.)." []	566854	\N	\N	EFO	2	EFO	disease	Klinefelter's syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001006	"A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.)." []	1148273	\N	\N	EFO	3	EFO	disposition	Klinefelter's syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001006	"A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.)." []	2030541	\N	\N	EFO	4	EFO	material property	Klinefelter's syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001006	"A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.)." []	3181201	\N	\N	EFO	5	EFO	experimental factor	Klinefelter's syndrome
EFO:1001007	\N	\N	"carcinoma having known association to krebs2 gene mutation" []	EFO:1001007	"carcinoma having known association to krebs2 gene mutation" []	70594	\N	\N	EFO	0	EFO	krebs 2 carcinoma	krebs 2 carcinoma
EFO:0000313	EFO:1001007	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001007	"carcinoma having known association to krebs2 gene mutation" []	213086	\N	\N	EFO	1	EFO	carcinoma	krebs 2 carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001007	"carcinoma having known association to krebs2 gene mutation" []	566855	\N	\N	EFO	2	EFO	cancer	krebs 2 carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001007	"carcinoma having known association to krebs2 gene mutation" []	566856	\N	\N	EFO	2	EFO	epithelial neoplasm	krebs 2 carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001007	"carcinoma having known association to krebs2 gene mutation" []	1148274	\N	\N	EFO	3	EFO	neoplasm	krebs 2 carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001007	"carcinoma having known association to krebs2 gene mutation" []	1148275	\N	\N	EFO	3	EFO	neoplasm	krebs 2 carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001007	"carcinoma having known association to krebs2 gene mutation" []	2030542	\N	\N	EFO	4	EFO	disease	krebs 2 carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001007	"carcinoma having known association to krebs2 gene mutation" []	3181202	\N	\N	EFO	5	EFO	disposition	krebs 2 carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001007	"carcinoma having known association to krebs2 gene mutation" []	4389650	\N	\N	EFO	6	EFO	material property	krebs 2 carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001007	"carcinoma having known association to krebs2 gene mutation" []	5409395	\N	\N	EFO	7	EFO	experimental factor	krebs 2 carcinoma
EFO:1001008	\N	\N	"A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" []	EFO:1001008	"A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" []	70595	\N	\N	EFO	0	EFO	kuru	kuru
EFO:0004720	EFO:1001008	\N	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	EFO:1001008	"A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" []	213087	\N	\N	EFO	1	EFO	prion disease	kuru
EFO:0000618	EFO:0004720	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001008	"A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" []	566857	\N	\N	EFO	2	EFO	nervous system disease	kuru
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001008	"A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" []	1148276	\N	\N	EFO	3	EFO	disease	kuru
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001008	"A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" []	2030543	\N	\N	EFO	4	EFO	disposition	kuru
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001008	"A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" []	3181203	\N	\N	EFO	5	EFO	material property	kuru
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001008	"A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" []	4389651	\N	\N	EFO	6	EFO	experimental factor	kuru
EFO:1001009	\N	\N	"A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning \\"displaced child\\". Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" []	EFO:1001009	"A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning \\"displaced child\\". Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" []	70596	\N	\N	EFO	0	EFO	kwashiorkor	kwashiorkor
EFO:1001067	EFO:1001009	\N	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	EFO:1001009	"A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning \\"displaced child\\". Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" []	213088	\N	\N	EFO	1	EFO	nutritional deficiency disease	kwashiorkor
EFO:0001069	EFO:1001067	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1001009	"A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning \\"displaced child\\". Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" []	566858	\N	\N	EFO	2	EFO	nutritional disorder	kwashiorkor
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001009	"A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning \\"displaced child\\". Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" []	1148277	\N	\N	EFO	3	EFO	metabolic disease	kwashiorkor
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001009	"A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning \\"displaced child\\". Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" []	2030544	\N	\N	EFO	4	EFO	disease	kwashiorkor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001009	"A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning \\"displaced child\\". Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" []	3181204	\N	\N	EFO	5	EFO	disposition	kwashiorkor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001009	"A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning \\"displaced child\\". Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" []	4389652	\N	\N	EFO	6	EFO	material property	kwashiorkor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001009	"A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning \\"displaced child\\". Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" []	5409396	\N	\N	EFO	7	EFO	experimental factor	kwashiorkor
EFO:1001010	\N	\N	"A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)" []	EFO:1001010	"A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)" []	70597	\N	\N	EFO	0	EFO	Landau-Kleffner syndrome	Landau-Kleffner syndrome
EFO:0000474	EFO:1001010	\N	"A disorder characterized by recurrent seizures" []	EFO:1001010	"A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)" []	213089	\N	\N	EFO	1	EFO	epilepsy	Landau-Kleffner syndrome
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:1001010	"A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)" []	566859	\N	\N	EFO	2	EFO	brain disease	Landau-Kleffner syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001010	"A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)" []	1148278	\N	\N	EFO	3	EFO	nervous system disease	Landau-Kleffner syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001010	"A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)" []	2030545	\N	\N	EFO	4	EFO	disease	Landau-Kleffner syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001010	"A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)" []	3181205	\N	\N	EFO	5	EFO	disposition	Landau-Kleffner syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001010	"A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)" []	4389653	\N	\N	EFO	6	EFO	material property	Landau-Kleffner syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001010	"A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)" []	5409397	\N	\N	EFO	7	EFO	experimental factor	Landau-Kleffner syndrome
EFO:1001011	\N	\N	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	70598	\N	\N	EFO	0	EFO	lateral medullary syndrome	lateral medullary syndrome
EFO:1000847	EFO:1001011	\N	"Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	213090	\N	\N	EFO	1	EFO	brain stem infarction	lateral medullary syndrome
EFO:0004277	EFO:1000847	\N	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	566860	\N	\N	EFO	2	EFO	brain infarction	lateral medullary syndrome
EFO:0003763	EFO:0004277	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	1148279	\N	\N	EFO	3	EFO	cerebrovascular disorder	lateral medullary syndrome
EFO:0005774	EFO:0004277	\N	"A disease affecting the brain or part of the brain." []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	1148280	\N	\N	EFO	3	EFO	brain disease	lateral medullary syndrome
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	2030546	\N	\N	EFO	4	EFO	vascular disease	lateral medullary syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	2030547	\N	\N	EFO	4	EFO	nervous system disease	lateral medullary syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	3181206	\N	\N	EFO	5	EFO	cardiovascular disease	lateral medullary syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	3181207	\N	\N	EFO	5	EFO	disease	lateral medullary syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	4389654	\N	\N	EFO	6	EFO	disease	lateral medullary syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	5409398	\N	\N	EFO	7	EFO	disposition	lateral medullary syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	5996749	\N	\N	EFO	8	EFO	material property	lateral medullary syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001011	"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)" []	6550414	\N	\N	EFO	9	EFO	experimental factor	lateral medullary syndrome
EFO:1001012	\N	\N	"Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." []	EFO:1001012	"Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." []	70599	\N	\N	EFO	0	EFO	leptomeningeal metastases	leptomeningeal metastases
EFO:0003851	EFO:1001012	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	EFO:1001012	"Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." []	213091	\N	\N	EFO	1	EFO	meningeal neoplasm	leptomeningeal metastases
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1001012	"Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." []	566861	\N	\N	EFO	2	EFO	brain neoplasm	leptomeningeal metastases
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001012	"Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." []	1148281	\N	\N	EFO	3	EFO	neoplasm	leptomeningeal metastases
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1001012	"Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." []	1148282	\N	\N	EFO	3	EFO	brain disease	leptomeningeal metastases
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001012	"Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." []	2030548	\N	\N	EFO	4	EFO	disease	leptomeningeal metastases
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001012	"Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." []	2030549	\N	\N	EFO	4	EFO	nervous system disease	leptomeningeal metastases
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001012	"Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." []	4389657	\N	\N	EFO	6	EFO	disposition	leptomeningeal metastases
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001012	"Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." []	3181209	\N	\N	EFO	5	EFO	disease	leptomeningeal metastases
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001012	"Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." []	5181321	\N	\N	EFO	7	EFO	material property	leptomeningeal metastases
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001012	"Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." []	5996750	\N	\N	EFO	8	EFO	experimental factor	leptomeningeal metastases
EFO:1001013	\N	\N	"A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." []	EFO:1001013	"A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." []	70600	\N	\N	EFO	0	EFO	lethal midline granuloma	lethal midline granuloma
EFO:0005950	EFO:1001013	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1001013	"A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." []	213092	\N	\N	EFO	1	EFO	head and neck neoplasia	lethal midline granuloma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001013	"A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." []	566862	\N	\N	EFO	2	EFO	head disease	lethal midline granuloma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001013	"A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." []	566863	\N	\N	EFO	2	EFO	neoplasm	lethal midline granuloma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001013	"A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." []	1148283	\N	\N	EFO	3	EFO	disease	lethal midline granuloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001013	"A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." []	1148284	\N	\N	EFO	3	EFO	disease	lethal midline granuloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001013	"A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." []	2030550	\N	\N	EFO	4	EFO	disposition	lethal midline granuloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001013	"A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." []	3181210	\N	\N	EFO	5	EFO	material property	lethal midline granuloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001013	"A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." []	4389658	\N	\N	EFO	6	EFO	experimental factor	lethal midline granuloma
EFO:1001014	\N	\N	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	EFO:1001014	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	70601	\N	\N	EFO	0	EFO	leukemoid reaction	leukemoid reaction
EFO:0000200	EFO:1001014	\N	"A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." []	EFO:1001014	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	213093	\N	\N	EFO	1	EFO	plasma cell neoplasm	leukemoid reaction
EFO:0000096	EFO:0000200	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:1001014	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	566864	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	leukemoid reaction
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001014	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	1148285	\N	\N	EFO	3	EFO	lymphoid neoplasm	leukemoid reaction
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001014	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	2030551	\N	\N	EFO	4	EFO	cancer	leukemoid reaction
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001014	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	2030552	\N	\N	EFO	4	EFO	hematological system disease	leukemoid reaction
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001014	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	3181211	\N	\N	EFO	5	EFO	neoplasm	leukemoid reaction
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001014	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	3181212	\N	\N	EFO	5	EFO	disease	leukemoid reaction
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001014	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	4389659	\N	\N	EFO	6	EFO	disease	leukemoid reaction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001014	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	5409401	\N	\N	EFO	7	EFO	disposition	leukemoid reaction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001014	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	5996751	\N	\N	EFO	8	EFO	material property	leukemoid reaction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001014	"A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" []	6550415	\N	\N	EFO	9	EFO	experimental factor	leukemoid reaction
EFO:1001015	\N	\N	"An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice." []	EFO:1001015	"An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice." []	70602	\N	\N	EFO	0	EFO	leukoplakia of penis	leukoplakia of penis
EFO:0000512	EFO:1001015	\N	"any diease of the reproductive system" []	EFO:1001015	"An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice." []	213094	\N	\N	EFO	1	EFO	reproductive system disease	leukoplakia of penis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001015	"An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice." []	566865	\N	\N	EFO	2	EFO	disease	leukoplakia of penis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001015	"An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice." []	1148286	\N	\N	EFO	3	EFO	disposition	leukoplakia of penis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001015	"An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice." []	2030553	\N	\N	EFO	4	EFO	material property	leukoplakia of penis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001015	"An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice." []	3181213	\N	\N	EFO	5	EFO	experimental factor	leukoplakia of penis
EFO:1001016	\N	\N	"Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs." []	EFO:1001016	"Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs." []	70603	\N	\N	EFO	0	EFO	leukostasis	leukostasis
EFO:0000540	EFO:1001016	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001016	"Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs." []	213095	\N	\N	EFO	1	EFO	immune system disease	leukostasis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001016	"Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs." []	566866	\N	\N	EFO	2	EFO	disease	leukostasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001016	"Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs." []	1148287	\N	\N	EFO	3	EFO	disposition	leukostasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001016	"Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs." []	2030554	\N	\N	EFO	4	EFO	material property	leukostasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001016	"Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs." []	3181214	\N	\N	EFO	5	EFO	experimental factor	leukostasis
EFO:1001017	\N	\N	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	70604	\N	\N	EFO	0	EFO	limited scleroderma	limited scleroderma
EFO:0000717	EFO:1001017	\N	"A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	213096	\N	\N	EFO	1	EFO	systemic scleroderma	limited scleroderma
EFO:0000540	EFO:0000717	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	566867	\N	\N	EFO	2	EFO	immune system disease	limited scleroderma
EFO:0000701	EFO:0000717	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	566868	\N	\N	EFO	2	EFO	skin disease	limited scleroderma
EFO:1001993	EFO:0000717	\N	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	566869	\N	\N	EFO	2	EFO	scleroderma	limited scleroderma
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	1148288	\N	\N	EFO	3	EFO	disease	limited scleroderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	1148289	\N	\N	EFO	3	EFO	disease	limited scleroderma
Orphanet:98702	EFO:1001993	\N	"" []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	1148290	\N	\N	EFO	3	EFO	Connective tissue disease with eye involvement	limited scleroderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	5409403	\N	\N	EFO	7	EFO	disposition	limited scleroderma
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	2030556	\N	\N	EFO	4	EFO	connective tissue disease	limited scleroderma
Orphanet:101435	Orphanet:98702	\N	"" []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	2030557	\N	\N	EFO	4	EFO	Rare genetic eye disease	limited scleroderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	5817410	\N	\N	EFO	8	EFO	material property	limited scleroderma
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	3181216	\N	\N	EFO	5	EFO	skeletal system disease	limited scleroderma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	3181217	\N	\N	EFO	5	EFO	genetic disorder	limited scleroderma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	3181218	\N	\N	EFO	5	EFO	eye disease	limited scleroderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	6409770	\N	\N	EFO	9	EFO	experimental factor	limited scleroderma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	4389662	\N	\N	EFO	6	EFO	disease	limited scleroderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	4389663	\N	\N	EFO	6	EFO	disease	limited scleroderma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001017	"The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." []	4389664	\N	\N	EFO	6	EFO	disease	limited scleroderma
EFO:1001018	\N	\N	"Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms." []	EFO:1001018	"Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms." []	70605	\N	\N	EFO	0	EFO	lingual goiter	lingual goiter
EFO:0004283	EFO:1001018	\N	"Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." []	EFO:1001018	"Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms." []	213097	\N	\N	EFO	1	EFO	goiter	lingual goiter
EFO:0001379	EFO:0004283	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001018	"Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms." []	566870	\N	\N	EFO	2	EFO	endocrine system disease	lingual goiter
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001018	"Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms." []	1148291	\N	\N	EFO	3	EFO	disease	lingual goiter
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001018	"Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms." []	2030558	\N	\N	EFO	4	EFO	disposition	lingual goiter
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001018	"Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms." []	3181219	\N	\N	EFO	5	EFO	material property	lingual goiter
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001018	"Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms." []	4389665	\N	\N	EFO	6	EFO	experimental factor	lingual goiter
EFO:1001019	\N	\N	"Tumors or cancer of the LIP." []	EFO:1001019	"Tumors or cancer of the LIP." []	70606	\N	\N	EFO	0	EFO	lip cancer	lip cancer
EFO:0005570	EFO:1001019	\N	"A gastrointestinal system cancer that is located_in the oral cavity." []	EFO:1001019	"Tumors or cancer of the LIP." []	213098	\N	\N	EFO	1	EFO	oral cavity cancer	lip cancer
EFO:0000311	EFO:0005570	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001019	"Tumors or cancer of the LIP." []	566871	\N	\N	EFO	2	EFO	cancer	lip cancer
EFO:0005950	EFO:0005570	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1001019	"Tumors or cancer of the LIP." []	566872	\N	\N	EFO	2	EFO	head and neck neoplasia	lip cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001019	"Tumors or cancer of the LIP." []	1148292	\N	\N	EFO	3	EFO	neoplasm	lip cancer
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001019	"Tumors or cancer of the LIP." []	1148293	\N	\N	EFO	3	EFO	head disease	lip cancer
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001019	"Tumors or cancer of the LIP." []	1148294	\N	\N	EFO	3	EFO	neoplasm	lip cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001019	"Tumors or cancer of the LIP." []	2030559	\N	\N	EFO	4	EFO	disease	lip cancer
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001019	"Tumors or cancer of the LIP." []	2030560	\N	\N	EFO	4	EFO	disease	lip cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001019	"Tumors or cancer of the LIP." []	3181220	\N	\N	EFO	5	EFO	disposition	lip cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001019	"Tumors or cancer of the LIP." []	4389666	\N	\N	EFO	6	EFO	material property	lip cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001019	"Tumors or cancer of the LIP." []	5409404	\N	\N	EFO	7	EFO	experimental factor	lip cancer
EFO:1001020	\N	\N	"A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA." []	EFO:1001020	"A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA." []	70607	\N	\N	EFO	0	EFO	lipoid nephrosis	lipoid nephrosis
EFO:0003086	EFO:1001020	\N	"A disease affecting the kidneys" []	EFO:1001020	"A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA." []	213099	\N	\N	EFO	1	EFO	kidney disease	lipoid nephrosis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001020	"A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA." []	566873	\N	\N	EFO	2	EFO	disease	lipoid nephrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001020	"A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA." []	1148295	\N	\N	EFO	3	EFO	disposition	lipoid nephrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001020	"A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA." []	2030561	\N	\N	EFO	4	EFO	material property	lipoid nephrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001020	"A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA." []	3181221	\N	\N	EFO	5	EFO	experimental factor	lipoid nephrosis
EFO:1001021	\N	\N	"Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" []	EFO:1001021	"Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" []	70608	\N	\N	EFO	0	EFO	Listeria meningitis	Listeria meningitis
EFO:1000831	EFO:1001021	\N	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	EFO:1001021	"Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" []	213100	\N	\N	EFO	1	EFO	bacterial meningitis	Listeria meningitis
EFO:0000584	EFO:1000831	\N	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	EFO:1001021	"Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" []	566874	\N	\N	EFO	2	EFO	infectious meningitis	Listeria meningitis
EFO:0005741	EFO:0000584	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001021	"Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" []	1148296	\N	\N	EFO	3	EFO	infectious disease	Listeria meningitis
EFO:0005774	EFO:0000584	\N	"A disease affecting the brain or part of the brain." []	EFO:1001021	"Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" []	1148297	\N	\N	EFO	3	EFO	brain disease	Listeria meningitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001021	"Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" []	2030562	\N	\N	EFO	4	EFO	disease	Listeria meningitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001021	"Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" []	2030563	\N	\N	EFO	4	EFO	nervous system disease	Listeria meningitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001021	"Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" []	4389668	\N	\N	EFO	6	EFO	disposition	Listeria meningitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001021	"Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" []	3181223	\N	\N	EFO	5	EFO	disease	Listeria meningitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001021	"Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" []	5181322	\N	\N	EFO	7	EFO	material property	Listeria meningitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001021	"Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)" []	5996752	\N	\N	EFO	8	EFO	experimental factor	Listeria meningitis
EFO:1001022	\N	\N	"A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." []	EFO:1001022	"A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." []	70609	\N	\N	EFO	0	EFO	low tension glaucoma	low tension glaucoma
EFO:0004190	EFO:1001022	\N	"Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris." []	EFO:1001022	"A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." []	213101	\N	\N	EFO	1	EFO	open-angle glaucoma	low tension glaucoma
EFO:0000516	EFO:0004190	\N	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	EFO:1001022	"A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." []	566875	\N	\N	EFO	2	EFO	glaucoma	low tension glaucoma
EFO:0001058	EFO:0000516	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1001022	"A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." []	1148298	\N	\N	EFO	3	EFO	sensory system disease	low tension glaucoma
EFO:0003966	EFO:0000516	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001022	"A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." []	1148299	\N	\N	EFO	3	EFO	eye disease	low tension glaucoma
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001022	"A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." []	2030564	\N	\N	EFO	4	EFO	nervous system disease	low tension glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001022	"A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." []	2030565	\N	\N	EFO	4	EFO	disease	low tension glaucoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001022	"A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." []	3181224	\N	\N	EFO	5	EFO	disease	low tension glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001022	"A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." []	4389669	\N	\N	EFO	6	EFO	disposition	low tension glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001022	"A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." []	5181323	\N	\N	EFO	7	EFO	material property	low tension glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001022	"A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." []	5996753	\N	\N	EFO	8	EFO	experimental factor	low tension glaucoma
EFO:1001023	\N	\N	"A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." []	EFO:1001023	"A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." []	70610	\N	\N	EFO	0	EFO	lupus vulgaris	lupus vulgaris
Orphanet:3389	EFO:1001023	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:1001023	"A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." []	213102	\N	\N	EFO	1	EFO	Tuberculosis	lupus vulgaris
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001023	"A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." []	566876	\N	\N	EFO	2	EFO	respiratory system disease	lupus vulgaris
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001023	"A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." []	566877	\N	\N	EFO	2	EFO	bacterial disease	lupus vulgaris
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001023	"A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." []	1148300	\N	\N	EFO	3	EFO	disease	lupus vulgaris
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001023	"A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." []	1148301	\N	\N	EFO	3	EFO	infectious disease	lupus vulgaris
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001023	"A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." []	3181227	\N	\N	EFO	5	EFO	disposition	lupus vulgaris
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001023	"A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." []	2030567	\N	\N	EFO	4	EFO	disease	lupus vulgaris
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001023	"A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." []	4133080	\N	\N	EFO	6	EFO	material property	lupus vulgaris
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001023	"A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." []	5181324	\N	\N	EFO	7	EFO	experimental factor	lupus vulgaris
EFO:1001024	\N	\N	"A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." []	EFO:1001024	"A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." []	70611	\N	\N	EFO	0	EFO	Lutembacher's syndrome	Lutembacher's syndrome
EFO:1000825	EFO:1001024	\N	"Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects." []	EFO:1001024	"A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." []	213103	\N	\N	EFO	1	EFO	atrial heart septal defect	Lutembacher's syndrome
EFO:0003777	EFO:1000825	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001024	"A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." []	566878	\N	\N	EFO	2	EFO	heart disease	Lutembacher's syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001024	"A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." []	1148302	\N	\N	EFO	3	EFO	cardiovascular disease	Lutembacher's syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001024	"A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." []	2030568	\N	\N	EFO	4	EFO	disease	Lutembacher's syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001024	"A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." []	3181228	\N	\N	EFO	5	EFO	disposition	Lutembacher's syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001024	"A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." []	4389672	\N	\N	EFO	6	EFO	material property	Lutembacher's syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001024	"A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." []	5409407	\N	\N	EFO	7	EFO	experimental factor	Lutembacher's syndrome
EFO:1001025	\N	\N	"A transient dilatation of the lymphatic vessels." []	EFO:1001025	"A transient dilatation of the lymphatic vessels." []	70612	\N	\N	EFO	0	EFO	lymphangiectasis	lymphangiectasis
EFO:0000319	EFO:1001025	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001025	"A transient dilatation of the lymphatic vessels." []	213104	\N	\N	EFO	1	EFO	cardiovascular disease	lymphangiectasis
EFO:0007352	EFO:1001025	\N	"a disease in lymphatic system" []	EFO:1001025	"A transient dilatation of the lymphatic vessels." []	213105	\N	\N	EFO	1	EFO	lymphatic system disease	lymphangiectasis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001025	"A transient dilatation of the lymphatic vessels." []	566879	\N	\N	EFO	2	EFO	disease	lymphangiectasis
EFO:0005803	EFO:0007352	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001025	"A transient dilatation of the lymphatic vessels." []	566880	\N	\N	EFO	2	EFO	hematological system disease	lymphangiectasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001025	"A transient dilatation of the lymphatic vessels." []	2030570	\N	\N	EFO	4	EFO	disposition	lymphangiectasis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001025	"A transient dilatation of the lymphatic vessels." []	1148304	\N	\N	EFO	3	EFO	disease	lymphangiectasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001025	"A transient dilatation of the lymphatic vessels." []	3000067	\N	\N	EFO	5	EFO	material property	lymphangiectasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001025	"A transient dilatation of the lymphatic vessels." []	4133081	\N	\N	EFO	6	EFO	experimental factor	lymphangiectasis
EFO:1001026	\N	\N	"A benign tumor resulting from a congenital malformation of the lymphatic system. Lymphangioendothelioma is a type of lymphangioma in which endothelial cells are the dominant component." []	EFO:1001026	"A benign tumor resulting from a congenital malformation of the lymphatic system. Lymphangioendothelioma is a type of lymphangioma in which endothelial cells are the dominant component." []	70613	\N	\N	EFO	0	EFO	lymphangioendothelioma	lymphangioendothelioma
EFO:0000616	EFO:1001026	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001026	"A benign tumor resulting from a congenital malformation of the lymphatic system. Lymphangioendothelioma is a type of lymphangioma in which endothelial cells are the dominant component." []	213106	\N	\N	EFO	1	EFO	neoplasm	lymphangioendothelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001026	"A benign tumor resulting from a congenital malformation of the lymphatic system. Lymphangioendothelioma is a type of lymphangioma in which endothelial cells are the dominant component." []	566881	\N	\N	EFO	2	EFO	disease	lymphangioendothelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001026	"A benign tumor resulting from a congenital malformation of the lymphatic system. Lymphangioendothelioma is a type of lymphangioma in which endothelial cells are the dominant component." []	1148305	\N	\N	EFO	3	EFO	disposition	lymphangioendothelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001026	"A benign tumor resulting from a congenital malformation of the lymphatic system. Lymphangioendothelioma is a type of lymphangioma in which endothelial cells are the dominant component." []	2030571	\N	\N	EFO	4	EFO	material property	lymphangioendothelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001026	"A benign tumor resulting from a congenital malformation of the lymphatic system. Lymphangioendothelioma is a type of lymphangioma in which endothelial cells are the dominant component." []	3181230	\N	\N	EFO	5	EFO	experimental factor	lymphangioendothelioma
EFO:1001027	\N	\N	"A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES." []	EFO:1001027	"A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES." []	70614	\N	\N	EFO	0	EFO	lymphangiomyoma	lymphangiomyoma
EFO:1000464	EFO:1001027	\N	"A soft tissue mesenchymal tumor with perivascular epithelioid cell differentiation. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." []	EFO:1001027	"A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES." []	213107	\N	\N	EFO	1	EFO	PEComa	lymphangiomyoma
EFO:0000616	EFO:1000464	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001027	"A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES." []	566882	\N	\N	EFO	2	EFO	neoplasm	lymphangiomyoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001027	"A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES." []	1148306	\N	\N	EFO	3	EFO	disease	lymphangiomyoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001027	"A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES." []	2030572	\N	\N	EFO	4	EFO	disposition	lymphangiomyoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001027	"A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES." []	3181231	\N	\N	EFO	5	EFO	material property	lymphangiomyoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001027	"A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES." []	4389673	\N	\N	EFO	6	EFO	experimental factor	lymphangiomyoma
EFO:1001028	\N	\N	"Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." []	EFO:1001028	"Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." []	70615	\N	\N	EFO	0	EFO	macular holes	macular holes
EFO:0000524	EFO:1001028	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001028	"Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." []	213108	\N	\N	EFO	1	EFO	head disease	macular holes
EFO:0003966	EFO:1001028	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001028	"Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." []	213109	\N	\N	EFO	1	EFO	eye disease	macular holes
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001028	"Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." []	566883	\N	\N	EFO	2	EFO	disease	macular holes
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001028	"Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." []	566884	\N	\N	EFO	2	EFO	disease	macular holes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001028	"Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." []	1148307	\N	\N	EFO	3	EFO	disposition	macular holes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001028	"Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." []	2030573	\N	\N	EFO	4	EFO	material property	macular holes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001028	"Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." []	3181232	\N	\N	EFO	5	EFO	experimental factor	macular holes
EFO:1001029	\N	\N	"A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" []	EFO:1001029	"A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" []	70616	\N	\N	EFO	0	EFO	magnesium deficiency	magnesium deficiency
EFO:1001067	EFO:1001029	\N	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	EFO:1001029	"A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" []	213110	\N	\N	EFO	1	EFO	nutritional deficiency disease	magnesium deficiency
EFO:0001069	EFO:1001067	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1001029	"A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" []	566885	\N	\N	EFO	2	EFO	nutritional disorder	magnesium deficiency
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001029	"A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" []	1148308	\N	\N	EFO	3	EFO	metabolic disease	magnesium deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001029	"A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" []	2030574	\N	\N	EFO	4	EFO	disease	magnesium deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001029	"A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" []	3181233	\N	\N	EFO	5	EFO	disposition	magnesium deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001029	"A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" []	4389674	\N	\N	EFO	6	EFO	material property	magnesium deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001029	"A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" []	5409408	\N	\N	EFO	7	EFO	experimental factor	magnesium deficiency
EFO:1001030	\N	\N	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	EFO:1001030	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	70617	\N	\N	EFO	0	EFO	male genital tuberculosis	male genital tuberculosis
EFO:0000512	EFO:1001030	\N	"any diease of the reproductive system" []	EFO:1001030	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	213111	\N	\N	EFO	1	EFO	reproductive system disease	male genital tuberculosis
Orphanet:3389	EFO:1001030	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:1001030	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	213112	\N	\N	EFO	1	EFO	Tuberculosis	male genital tuberculosis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001030	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	566886	\N	\N	EFO	2	EFO	disease	male genital tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001030	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	566887	\N	\N	EFO	2	EFO	respiratory system disease	male genital tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001030	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	566888	\N	\N	EFO	2	EFO	bacterial disease	male genital tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001030	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	3181235	\N	\N	EFO	5	EFO	disposition	male genital tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001030	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	1148310	\N	\N	EFO	3	EFO	disease	male genital tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001030	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	1148311	\N	\N	EFO	3	EFO	infectious disease	male genital tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001030	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	4066812	\N	\N	EFO	6	EFO	material property	male genital tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001030	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	2030577	\N	\N	EFO	4	EFO	disease	male genital tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001030	"MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." []	5059504	\N	\N	EFO	7	EFO	experimental factor	male genital tuberculosis
EFO:1001031	\N	\N	"A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction." []	EFO:1001031	"A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction." []	70618	\N	\N	EFO	0	EFO	malignant hypertension	malignant hypertension
EFO:0000537	EFO:1001031	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:1001031	"A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction." []	213113	\N	\N	EFO	1	EFO	hypertension	malignant hypertension
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001031	"A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction." []	566889	\N	\N	EFO	2	EFO	cardiovascular disease	malignant hypertension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001031	"A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction." []	1148312	\N	\N	EFO	3	EFO	disease	malignant hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001031	"A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction." []	2030578	\N	\N	EFO	4	EFO	disposition	malignant hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001031	"A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction." []	3181236	\N	\N	EFO	5	EFO	material property	malignant hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001031	"A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction." []	4389675	\N	\N	EFO	6	EFO	experimental factor	malignant hypertension
EFO:1001032	\N	\N	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	EFO:1001032	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	70619	\N	\N	EFO	0	EFO	malignant lymphatic vessel tumor	malignant lymphatic vessel tumor
EFO:0000319	EFO:1001032	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001032	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	213114	\N	\N	EFO	1	EFO	cardiovascular disease	malignant lymphatic vessel tumor
EFO:0001642	EFO:1001032	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001032	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	213115	\N	\N	EFO	1	EFO	lymphoid neoplasm	malignant lymphatic vessel tumor
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001032	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	566890	\N	\N	EFO	2	EFO	disease	malignant lymphatic vessel tumor
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001032	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	566891	\N	\N	EFO	2	EFO	cancer	malignant lymphatic vessel tumor
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001032	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	566892	\N	\N	EFO	2	EFO	hematological system disease	malignant lymphatic vessel tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001032	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	3181238	\N	\N	EFO	5	EFO	disposition	malignant lymphatic vessel tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001032	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	1148314	\N	\N	EFO	3	EFO	neoplasm	malignant lymphatic vessel tumor
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001032	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	1148315	\N	\N	EFO	3	EFO	disease	malignant lymphatic vessel tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001032	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	4066813	\N	\N	EFO	6	EFO	material property	malignant lymphatic vessel tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001032	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	2030580	\N	\N	EFO	4	EFO	disease	malignant lymphatic vessel tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001032	"Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." []	5059505	\N	\N	EFO	7	EFO	experimental factor	malignant lymphatic vessel tumor
EFO:1001033	\N	\N	"The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." []	EFO:1001033	"The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." []	70620	\N	\N	EFO	0	EFO	marasmus	marasmus
EFO:1001067	EFO:1001033	\N	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	EFO:1001033	"The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." []	213116	\N	\N	EFO	1	EFO	nutritional deficiency disease	marasmus
EFO:0001069	EFO:1001067	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1001033	"The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." []	566893	\N	\N	EFO	2	EFO	nutritional disorder	marasmus
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001033	"The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." []	1148316	\N	\N	EFO	3	EFO	metabolic disease	marasmus
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001033	"The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." []	2030582	\N	\N	EFO	4	EFO	disease	marasmus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001033	"The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." []	3181239	\N	\N	EFO	5	EFO	disposition	marasmus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001033	"The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." []	4389676	\N	\N	EFO	6	EFO	material property	marasmus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001033	"The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." []	5409409	\N	\N	EFO	7	EFO	experimental factor	marasmus
EFO:1001034	\N	\N	"INFLAMMATION of the BREAST, or MAMMARY GLAND." []	EFO:1001034	"INFLAMMATION of the BREAST, or MAMMARY GLAND." []	70621	\N	\N	EFO	0	EFO	mastitis	mastitis
EFO:0000512	EFO:1001034	\N	"any diease of the reproductive system" []	EFO:1001034	"INFLAMMATION of the BREAST, or MAMMARY GLAND." []	213117	\N	\N	EFO	1	EFO	reproductive system disease	mastitis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001034	"INFLAMMATION of the BREAST, or MAMMARY GLAND." []	566894	\N	\N	EFO	2	EFO	disease	mastitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001034	"INFLAMMATION of the BREAST, or MAMMARY GLAND." []	1148317	\N	\N	EFO	3	EFO	disposition	mastitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001034	"INFLAMMATION of the BREAST, or MAMMARY GLAND." []	2030583	\N	\N	EFO	4	EFO	material property	mastitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001034	"INFLAMMATION of the BREAST, or MAMMARY GLAND." []	3181240	\N	\N	EFO	5	EFO	experimental factor	mastitis
EFO:1001035	\N	\N	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	70622	\N	\N	EFO	0	EFO	maxillary sinus neoplasm	maxillary sinus neoplasm
EFO:0003866	EFO:1001035	\N	"Tumors or cancer of the PARANASAL SINUSES." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	213118	\N	\N	EFO	1	EFO	paranasal sinus neoplasm	maxillary sinus neoplasm
EFO:0003853	EFO:0003866	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	566895	\N	\N	EFO	2	EFO	respiratory system neoplasm	maxillary sinus neoplasm
EFO:0005950	EFO:0003866	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	566896	\N	\N	EFO	2	EFO	head and neck neoplasia	maxillary sinus neoplasm
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	1148318	\N	\N	EFO	3	EFO	neoplasm	maxillary sinus neoplasm
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	1148319	\N	\N	EFO	3	EFO	respiratory system disease	maxillary sinus neoplasm
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	1148320	\N	\N	EFO	3	EFO	head disease	maxillary sinus neoplasm
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	1148321	\N	\N	EFO	3	EFO	neoplasm	maxillary sinus neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	2030584	\N	\N	EFO	4	EFO	disease	maxillary sinus neoplasm
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	2030585	\N	\N	EFO	4	EFO	disease	maxillary sinus neoplasm
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	2030586	\N	\N	EFO	4	EFO	disease	maxillary sinus neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	3181241	\N	\N	EFO	5	EFO	disposition	maxillary sinus neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	4389677	\N	\N	EFO	6	EFO	material property	maxillary sinus neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001035	"Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." []	5409410	\N	\N	EFO	7	EFO	experimental factor	maxillary sinus neoplasm
EFO:1001036	\N	\N	"A congenital abnormality characterized by the outpouching or sac formation in the ILEUM. It is a remnant of the embryonic YOLK SAC in which the VITELLINE DUCT failed to close." []	EFO:1001036	"A congenital abnormality characterized by the outpouching or sac formation in the ILEUM. It is a remnant of the embryonic YOLK SAC in which the VITELLINE DUCT failed to close." []	70623	\N	\N	EFO	0	EFO	Meckel's diverticulum	Meckel's diverticulum
EFO:0000508	EFO:1001036	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001036	"A congenital abnormality characterized by the outpouching or sac formation in the ILEUM. It is a remnant of the embryonic YOLK SAC in which the VITELLINE DUCT failed to close." []	213119	\N	\N	EFO	1	EFO	genetic disorder	Meckel's diverticulum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001036	"A congenital abnormality characterized by the outpouching or sac formation in the ILEUM. It is a remnant of the embryonic YOLK SAC in which the VITELLINE DUCT failed to close." []	566897	\N	\N	EFO	2	EFO	disease	Meckel's diverticulum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001036	"A congenital abnormality characterized by the outpouching or sac formation in the ILEUM. It is a remnant of the embryonic YOLK SAC in which the VITELLINE DUCT failed to close." []	1148322	\N	\N	EFO	3	EFO	disposition	Meckel's diverticulum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001036	"A congenital abnormality characterized by the outpouching or sac formation in the ILEUM. It is a remnant of the embryonic YOLK SAC in which the VITELLINE DUCT failed to close." []	2030587	\N	\N	EFO	4	EFO	material property	Meckel's diverticulum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001036	"A congenital abnormality characterized by the outpouching or sac formation in the ILEUM. It is a remnant of the embryonic YOLK SAC in which the VITELLINE DUCT failed to close." []	3181242	\N	\N	EFO	5	EFO	experimental factor	Meckel's diverticulum
EFO:1001037	\N	\N	"A condition caused by inhalation of MECONIUM into the LUNG of FETUS or NEWBORN, usually due to vigorous respiratory movements during difficult PARTURITION or respiratory system abnormalities. Meconium aspirate may block small airways leading to difficulties in PULMONARY GAS EXCHANGE and ASPIRATION PNEUMONIA." []	EFO:1001037	"A condition caused by inhalation of MECONIUM into the LUNG of FETUS or NEWBORN, usually due to vigorous respiratory movements during difficult PARTURITION or respiratory system abnormalities. Meconium aspirate may block small airways leading to difficulties in PULMONARY GAS EXCHANGE and ASPIRATION PNEUMONIA." []	70624	\N	\N	EFO	0	EFO	meconium aspiration syndrome	meconium aspiration syndrome
EFO:0003818	EFO:1001037	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001037	"A condition caused by inhalation of MECONIUM into the LUNG of FETUS or NEWBORN, usually due to vigorous respiratory movements during difficult PARTURITION or respiratory system abnormalities. Meconium aspirate may block small airways leading to difficulties in PULMONARY GAS EXCHANGE and ASPIRATION PNEUMONIA." []	213120	\N	\N	EFO	1	EFO	lung disease	meconium aspiration syndrome
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001037	"A condition caused by inhalation of MECONIUM into the LUNG of FETUS or NEWBORN, usually due to vigorous respiratory movements during difficult PARTURITION or respiratory system abnormalities. Meconium aspirate may block small airways leading to difficulties in PULMONARY GAS EXCHANGE and ASPIRATION PNEUMONIA." []	566898	\N	\N	EFO	2	EFO	respiratory system disease	meconium aspiration syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001037	"A condition caused by inhalation of MECONIUM into the LUNG of FETUS or NEWBORN, usually due to vigorous respiratory movements during difficult PARTURITION or respiratory system abnormalities. Meconium aspirate may block small airways leading to difficulties in PULMONARY GAS EXCHANGE and ASPIRATION PNEUMONIA." []	1148323	\N	\N	EFO	3	EFO	disease	meconium aspiration syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001037	"A condition caused by inhalation of MECONIUM into the LUNG of FETUS or NEWBORN, usually due to vigorous respiratory movements during difficult PARTURITION or respiratory system abnormalities. Meconium aspirate may block small airways leading to difficulties in PULMONARY GAS EXCHANGE and ASPIRATION PNEUMONIA." []	2030588	\N	\N	EFO	4	EFO	disposition	meconium aspiration syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001037	"A condition caused by inhalation of MECONIUM into the LUNG of FETUS or NEWBORN, usually due to vigorous respiratory movements during difficult PARTURITION or respiratory system abnormalities. Meconium aspirate may block small airways leading to difficulties in PULMONARY GAS EXCHANGE and ASPIRATION PNEUMONIA." []	3181243	\N	\N	EFO	5	EFO	material property	meconium aspiration syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001037	"A condition caused by inhalation of MECONIUM into the LUNG of FETUS or NEWBORN, usually due to vigorous respiratory movements during difficult PARTURITION or respiratory system abnormalities. Meconium aspirate may block small airways leading to difficulties in PULMONARY GAS EXCHANGE and ASPIRATION PNEUMONIA." []	4389678	\N	\N	EFO	6	EFO	experimental factor	meconium aspiration syndrome
EFO:1001038	\N	\N	"A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed)" []	EFO:1001038	"A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed)" []	70625	\N	\N	EFO	0	EFO	melanotic neuroectodermal tumor	melanotic neuroectodermal tumor
EFO:0003820	EFO:1001038	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1001038	"A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed)" []	213121	\N	\N	EFO	1	EFO	bone neoplasm	melanotic neuroectodermal tumor
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001038	"A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed)" []	566899	\N	\N	EFO	2	EFO	neoplasm	melanotic neuroectodermal tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001038	"A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed)" []	1148324	\N	\N	EFO	3	EFO	disease	melanotic neuroectodermal tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001038	"A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed)" []	2030589	\N	\N	EFO	4	EFO	disposition	melanotic neuroectodermal tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001038	"A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed)" []	3181244	\N	\N	EFO	5	EFO	material property	melanotic neuroectodermal tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001038	"A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed)" []	4389679	\N	\N	EFO	6	EFO	experimental factor	melanotic neuroectodermal tumor
EFO:1001039	\N	\N	"An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)" []	EFO:1001039	"An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)" []	70626	\N	\N	EFO	0	EFO	Melkersson-Rosenthal syndrome	Melkersson-Rosenthal syndrome
EFO:0000540	EFO:1001039	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001039	"An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)" []	213122	\N	\N	EFO	1	EFO	immune system disease	Melkersson-Rosenthal syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001039	"An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)" []	566900	\N	\N	EFO	2	EFO	disease	Melkersson-Rosenthal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001039	"An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)" []	1148325	\N	\N	EFO	3	EFO	disposition	Melkersson-Rosenthal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001039	"An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)" []	2030590	\N	\N	EFO	4	EFO	material property	Melkersson-Rosenthal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001039	"An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)" []	3181245	\N	\N	EFO	5	EFO	experimental factor	Melkersson-Rosenthal syndrome
EFO:1001040	\N	\N	"A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)" []	EFO:1001040	"A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)" []	70627	\N	\N	EFO	0	EFO	meningococcal meningitis	meningococcal meningitis
EFO:0000584	EFO:1001040	\N	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	EFO:1001040	"A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)" []	213123	\N	\N	EFO	1	EFO	infectious meningitis	meningococcal meningitis
EFO:0005741	EFO:0000584	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001040	"A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)" []	566901	\N	\N	EFO	2	EFO	infectious disease	meningococcal meningitis
EFO:0005774	EFO:0000584	\N	"A disease affecting the brain or part of the brain." []	EFO:1001040	"A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)" []	566902	\N	\N	EFO	2	EFO	brain disease	meningococcal meningitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001040	"A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)" []	1148326	\N	\N	EFO	3	EFO	disease	meningococcal meningitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001040	"A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)" []	1148327	\N	\N	EFO	3	EFO	nervous system disease	meningococcal meningitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001040	"A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)" []	3181247	\N	\N	EFO	5	EFO	disposition	meningococcal meningitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001040	"A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)" []	2030592	\N	\N	EFO	4	EFO	disease	meningococcal meningitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001040	"A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)" []	4133084	\N	\N	EFO	6	EFO	material property	meningococcal meningitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001040	"A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)" []	5181325	\N	\N	EFO	7	EFO	experimental factor	meningococcal meningitis
EFO:1001041	\N	\N	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	70628	\N	\N	EFO	0	EFO	mesenchymal chondrosarcoma	mesenchymal chondrosarcoma
EFO:0000333	EFO:1001041	\N	"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)" []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	213124	\N	\N	EFO	1	EFO	chondrosarcoma	mesenchymal chondrosarcoma
EFO:0000691	EFO:0000333	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	566903	\N	\N	EFO	2	EFO	sarcoma	mesenchymal chondrosarcoma
EFO:0003820	EFO:0000333	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	566904	\N	\N	EFO	2	EFO	bone neoplasm	mesenchymal chondrosarcoma
EFO:0004260	EFO:0000333	\N	"Diseases of BONES." []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	566905	\N	\N	EFO	2	EFO	bone disease	mesenchymal chondrosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	1148328	\N	\N	EFO	3	EFO	cancer	mesenchymal chondrosarcoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	1148329	\N	\N	EFO	3	EFO	neoplasm	mesenchymal chondrosarcoma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	1148330	\N	\N	EFO	3	EFO	skeletal system disease	mesenchymal chondrosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	2030593	\N	\N	EFO	4	EFO	neoplasm	mesenchymal chondrosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	3181248	\N	\N	EFO	5	EFO	disease	mesenchymal chondrosarcoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	2030595	\N	\N	EFO	4	EFO	disease	mesenchymal chondrosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	4133085	\N	\N	EFO	6	EFO	disposition	mesenchymal chondrosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	5181326	\N	\N	EFO	7	EFO	material property	mesenchymal chondrosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001041	"A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" []	5996754	\N	\N	EFO	8	EFO	experimental factor	mesenchymal chondrosarcoma
EFO:1001042	\N	\N	"A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)" []	EFO:1001042	"A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)" []	70629	\N	\N	EFO	0	EFO	mesenchymoma	mesenchymoma
EFO:0000311	EFO:1001042	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001042	"A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)" []	213125	\N	\N	EFO	1	EFO	cancer	mesenchymoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001042	"A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)" []	566906	\N	\N	EFO	2	EFO	neoplasm	mesenchymoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001042	"A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)" []	1148331	\N	\N	EFO	3	EFO	disease	mesenchymoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001042	"A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)" []	2030596	\N	\N	EFO	4	EFO	disposition	mesenchymoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001042	"A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)" []	3181250	\N	\N	EFO	5	EFO	material property	mesenchymoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001042	"A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)" []	4389682	\N	\N	EFO	6	EFO	experimental factor	mesenchymoma
EFO:1001043	\N	\N	"Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" []	EFO:1001043	"Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" []	70630	\N	\N	EFO	0	EFO	mesenteric vascular occlusion	mesenteric vascular occlusion
EFO:0003875	EFO:1001043	\N	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	EFO:1001043	"Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" []	213126	\N	\N	EFO	1	EFO	peripheral vascular disease	mesenteric vascular occlusion
EFO:0004264	EFO:0003875	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001043	"Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" []	566907	\N	\N	EFO	2	EFO	vascular disease	mesenteric vascular occlusion
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001043	"Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" []	1148332	\N	\N	EFO	3	EFO	cardiovascular disease	mesenteric vascular occlusion
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001043	"Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" []	2030597	\N	\N	EFO	4	EFO	disease	mesenteric vascular occlusion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001043	"Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" []	3181251	\N	\N	EFO	5	EFO	disposition	mesenteric vascular occlusion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001043	"Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" []	4389683	\N	\N	EFO	6	EFO	material property	mesenteric vascular occlusion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001043	"Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" []	5409412	\N	\N	EFO	7	EFO	experimental factor	mesenteric vascular occlusion
EFO:1001044	\N	\N	"Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)" []	EFO:1001044	"Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)" []	70631	\N	\N	EFO	0	EFO	mesothelial neoplasm	mesothelial neoplasm
EFO:0000616	EFO:1001044	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001044	"Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)" []	213127	\N	\N	EFO	1	EFO	neoplasm	mesothelial neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001044	"Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)" []	566908	\N	\N	EFO	2	EFO	disease	mesothelial neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001044	"Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)" []	1148333	\N	\N	EFO	3	EFO	disposition	mesothelial neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001044	"Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)" []	2030598	\N	\N	EFO	4	EFO	material property	mesothelial neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001044	"Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)" []	3181252	\N	\N	EFO	5	EFO	experimental factor	mesothelial neoplasm
EFO:1001045	\N	\N	"NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." []	EFO:1001045	"NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." []	70632	\N	\N	EFO	0	EFO	middle cerebral artery infarction	middle cerebral artery infarction
EFO:1000859	EFO:1001045	\N	"Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." []	EFO:1001045	"NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." []	213128	\N	\N	EFO	1	EFO	cerebral arterial disease	middle cerebral artery infarction
EFO:0003763	EFO:1000859	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1001045	"NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." []	566909	\N	\N	EFO	2	EFO	cerebrovascular disorder	middle cerebral artery infarction
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001045	"NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." []	1148334	\N	\N	EFO	3	EFO	vascular disease	middle cerebral artery infarction
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001045	"NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." []	2030599	\N	\N	EFO	4	EFO	cardiovascular disease	middle cerebral artery infarction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001045	"NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." []	3181253	\N	\N	EFO	5	EFO	disease	middle cerebral artery infarction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001045	"NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." []	4389684	\N	\N	EFO	6	EFO	disposition	middle cerebral artery infarction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001045	"NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." []	5409413	\N	\N	EFO	7	EFO	material property	middle cerebral artery infarction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001045	"NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." []	6147649	\N	\N	EFO	8	EFO	experimental factor	middle cerebral artery infarction
EFO:1001046	\N	\N	"A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)" []	EFO:1001046	"A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)" []	70633	\N	\N	EFO	0	EFO	Mobius syndrome	Mobius syndrome
EFO:0004149	EFO:1001046	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001046	"A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)" []	213129	\N	\N	EFO	1	EFO	neuropathy	Mobius syndrome
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001046	"A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)" []	566910	\N	\N	EFO	2	EFO	nervous system disease	Mobius syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001046	"A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)" []	1148335	\N	\N	EFO	3	EFO	disease	Mobius syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001046	"A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)" []	2030600	\N	\N	EFO	4	EFO	disposition	Mobius syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001046	"A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)" []	3181254	\N	\N	EFO	5	EFO	material property	Mobius syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001046	"A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)" []	4389685	\N	\N	EFO	6	EFO	experimental factor	Mobius syndrome
EFO:1001047	\N	\N	"Any disease of the oral cavity" []	EFO:1001047	"Any disease of the oral cavity" []	70634	\N	\N	EFO	0	EFO	mouth disease	mouth disease
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001047	"Any disease of the oral cavity" []	213130	\N	\N	EFO	1	EFO	digestive system disease	mouth disease
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001047	"Any disease of the oral cavity" []	213131	\N	\N	EFO	1	EFO	head disease	mouth disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001047	"Any disease of the oral cavity" []	566911	\N	\N	EFO	2	EFO	disease	mouth disease
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001047	"Any disease of the oral cavity" []	566912	\N	\N	EFO	2	EFO	disease	mouth disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001047	"Any disease of the oral cavity" []	1148336	\N	\N	EFO	3	EFO	disposition	mouth disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001047	"Any disease of the oral cavity" []	2030601	\N	\N	EFO	4	EFO	material property	mouth disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001047	"Any disease of the oral cavity" []	3181255	\N	\N	EFO	5	EFO	experimental factor	mouth disease
EFO:1001048	\N	\N	"A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential." []	EFO:1001048	"A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential." []	70635	\N	\N	EFO	0	EFO	mucinous cystadenoma	mucinous cystadenoma
EFO:0000232	EFO:1001048	\N	"A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." []	EFO:1001048	"A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential." []	213132	\N	\N	EFO	1	EFO	adenoma	mucinous cystadenoma
EFO:0002422	EFO:0000232	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1001048	"A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential." []	566913	\N	\N	EFO	2	EFO	benign neoplasm	mucinous cystadenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001048	"A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential." []	1148337	\N	\N	EFO	3	EFO	neoplasm	mucinous cystadenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001048	"A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential." []	2030602	\N	\N	EFO	4	EFO	disease	mucinous cystadenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001048	"A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential." []	3181256	\N	\N	EFO	5	EFO	disposition	mucinous cystadenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001048	"A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential." []	4389686	\N	\N	EFO	6	EFO	material property	mucinous cystadenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001048	"A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential." []	5409414	\N	\N	EFO	7	EFO	experimental factor	mucinous cystadenoma
EFO:1001049	\N	\N	"A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	EFO:1001049	"A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	70636	\N	\N	EFO	0	EFO	mucoepidermoid tumor	mucoepidermoid tumor
EFO:0000228	EFO:1001049	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1001049	"A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	213133	\N	\N	EFO	1	EFO	adenocarcinoma	mucoepidermoid tumor
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001049	"A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	566914	\N	\N	EFO	2	EFO	carcinoma	mucoepidermoid tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001049	"A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	1148338	\N	\N	EFO	3	EFO	cancer	mucoepidermoid tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001049	"A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	1148339	\N	\N	EFO	3	EFO	epithelial neoplasm	mucoepidermoid tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001049	"A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	2030603	\N	\N	EFO	4	EFO	neoplasm	mucoepidermoid tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001049	"A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	2030604	\N	\N	EFO	4	EFO	neoplasm	mucoepidermoid tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001049	"A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	3181257	\N	\N	EFO	5	EFO	disease	mucoepidermoid tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001049	"A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	4389687	\N	\N	EFO	6	EFO	disposition	mucoepidermoid tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001049	"A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	5409415	\N	\N	EFO	7	EFO	material property	mucoepidermoid tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001049	"A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" []	6147650	\N	\N	EFO	8	EFO	experimental factor	mucoepidermoid tumor
EFO:1001050	\N	\N	"A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)" []	EFO:1001050	"A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)" []	70637	\N	\N	EFO	0	EFO	multiple system atrophy	multiple system atrophy
EFO:1000096	EFO:1001050	\N	"Any weakening or degeneration, especially through lack of use." []	EFO:1001050	"A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)" []	213134	\N	\N	EFO	1	EFO	Atrophy	multiple system atrophy
EFO:1001051	\N	\N	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	70638	\N	\N	EFO	0	EFO	mycosis fungoides	mycosis fungoides
EFO:0002913	EFO:1001051	\N	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	213135	\N	\N	EFO	1	EFO	Cutaneous T-cell lymphoma	mycosis fungoides
EFO:0004198	EFO:0002913	\N	"Tumors or cancer of the SKIN." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	566915	\N	\N	EFO	2	EFO	skin neoplasm	mycosis fungoides
EFO:0005952	EFO:0002913	\N	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	566916	\N	\N	EFO	2	EFO	non-Hodgkins lymphoma	mycosis fungoides
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	1148340	\N	\N	EFO	3	EFO	neoplasm	mycosis fungoides
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	1148341	\N	\N	EFO	3	EFO	skin disease	mycosis fungoides
EFO:0000574	EFO:0005952	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	1148342	\N	\N	EFO	3	EFO	lymphoma	mycosis fungoides
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	5409417	\N	\N	EFO	7	EFO	disease	mycosis fungoides
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	2030606	\N	\N	EFO	4	EFO	disease	mycosis fungoides
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	2030607	\N	\N	EFO	4	EFO	lymphoid neoplasm	mycosis fungoides
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	5817411	\N	\N	EFO	8	EFO	disposition	mycosis fungoides
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	3181259	\N	\N	EFO	5	EFO	cancer	mycosis fungoides
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	3181260	\N	\N	EFO	5	EFO	hematological system disease	mycosis fungoides
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	6409771	\N	\N	EFO	9	EFO	material property	mycosis fungoides
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	4389689	\N	\N	EFO	6	EFO	neoplasm	mycosis fungoides
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	4389690	\N	\N	EFO	6	EFO	disease	mycosis fungoides
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001051	"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." []	6807633	\N	\N	EFO	10	EFO	experimental factor	mycosis fungoides
EFO:1001052	\N	\N	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	70639	\N	\N	EFO	0	EFO	myeloid sarcoma	myeloid sarcoma
EFO:0000691	EFO:1001052	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	213136	\N	\N	EFO	1	EFO	sarcoma	myeloid sarcoma
EFO:0002427	EFO:1001052	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	213137	\N	\N	EFO	1	EFO	myeloid neoplasm	myeloid sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	566917	\N	\N	EFO	2	EFO	cancer	myeloid sarcoma
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	566918	\N	\N	EFO	2	EFO	lymphoid neoplasm	myeloid sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	2030609	\N	\N	EFO	4	EFO	neoplasm	myeloid sarcoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	1148344	\N	\N	EFO	3	EFO	cancer	myeloid sarcoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	1148345	\N	\N	EFO	3	EFO	hematological system disease	myeloid sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	3000070	\N	\N	EFO	5	EFO	disease	myeloid sarcoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	2030610	\N	\N	EFO	4	EFO	disease	myeloid sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	4133086	\N	\N	EFO	6	EFO	disposition	myeloid sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	5181327	\N	\N	EFO	7	EFO	material property	myeloid sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001052	"An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." []	5996755	\N	\N	EFO	8	EFO	experimental factor	myeloid sarcoma
EFO:1001053	\N	\N	"A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" []	EFO:1001053	"A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" []	70640	\N	\N	EFO	0	EFO	myoclonic cerebellar dyssynergia	myoclonic cerebellar dyssynergia
EFO:0005772	EFO:1001053	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:1001053	"A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" []	213138	\N	\N	EFO	1	EFO	neurodegenerative disease	myoclonic cerebellar dyssynergia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001053	"A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" []	566919	\N	\N	EFO	2	EFO	nervous system disease	myoclonic cerebellar dyssynergia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001053	"A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" []	1148346	\N	\N	EFO	3	EFO	disease	myoclonic cerebellar dyssynergia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001053	"A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" []	2030611	\N	\N	EFO	4	EFO	disposition	myoclonic cerebellar dyssynergia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001053	"A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" []	3181262	\N	\N	EFO	5	EFO	material property	myoclonic cerebellar dyssynergia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001053	"A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" []	4389692	\N	\N	EFO	6	EFO	experimental factor	myoclonic cerebellar dyssynergia
EFO:1001054	\N	\N	"Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." []	EFO:1001054	"Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." []	70641	\N	\N	EFO	0	EFO	myofascial pain syndrome	myofascial pain syndrome
EFO:0004145	EFO:1001054	\N	"A muscular disease in which the muscle fibers do not function resulting in muscular weakness." []	EFO:1001054	"Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." []	213139	\N	\N	EFO	1	EFO	myopathy	myofascial pain syndrome
EFO:0002970	EFO:0004145	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1001054	"Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." []	566920	\N	\N	EFO	2	EFO	muscular disease	myofascial pain syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1001054	"Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." []	1148347	\N	\N	EFO	3	EFO	skeletal system disease	myofascial pain syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001054	"Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." []	2030612	\N	\N	EFO	4	EFO	disease	myofascial pain syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001054	"Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." []	3181263	\N	\N	EFO	5	EFO	disposition	myofascial pain syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001054	"Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." []	4389693	\N	\N	EFO	6	EFO	material property	myofascial pain syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001054	"Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." []	5409420	\N	\N	EFO	7	EFO	experimental factor	myofascial pain syndrome
EFO:1001055	\N	\N	"A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." []	EFO:1001055	"A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." []	70642	\N	\N	EFO	0	EFO	myxedema	myxedema
EFO:0004705	EFO:1001055	\N	"A deficiency of thyroid hormone." []	EFO:1001055	"A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." []	213140	\N	\N	EFO	1	EFO	hypothyroidism	myxedema
EFO:1000627	EFO:0004705	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1001055	"A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." []	566921	\N	\N	EFO	2	EFO	thyroid disease	myxedema
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001055	"A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." []	1148348	\N	\N	EFO	3	EFO	endocrine system disease	myxedema
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001055	"A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." []	2030613	\N	\N	EFO	4	EFO	disease	myxedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001055	"A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." []	3181264	\N	\N	EFO	5	EFO	disposition	myxedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001055	"A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." []	4389694	\N	\N	EFO	6	EFO	material property	myxedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001055	"A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." []	5409421	\N	\N	EFO	7	EFO	experimental factor	myxedema
EFO:1001056	\N	\N	"A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" []	EFO:1001056	"A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" []	70643	\N	\N	EFO	0	EFO	myxosarcoma	myxosarcoma
EFO:0000691	EFO:1001056	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1001056	"A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" []	213141	\N	\N	EFO	1	EFO	sarcoma	myxosarcoma
EFO:0002461	EFO:1001056	\N	"Any disease which affects part of the skeletal system." []	EFO:1001056	"A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" []	213142	\N	\N	EFO	1	EFO	skeletal system disease	myxosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001056	"A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" []	566922	\N	\N	EFO	2	EFO	cancer	myxosarcoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001056	"A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" []	566923	\N	\N	EFO	2	EFO	disease	myxosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001056	"A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" []	1148349	\N	\N	EFO	3	EFO	neoplasm	myxosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001056	"A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" []	3181265	\N	\N	EFO	5	EFO	disposition	myxosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001056	"A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" []	2030614	\N	\N	EFO	4	EFO	disease	myxosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001056	"A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" []	4066814	\N	\N	EFO	6	EFO	material property	myxosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001056	"A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" []	5059506	\N	\N	EFO	7	EFO	experimental factor	myxosarcoma
EFO:1001057	\N	\N	"A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." []	EFO:1001057	"A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." []	70644	\N	\N	EFO	0	EFO	necrotizing sialometaplasia	necrotizing sialometaplasia
EFO:1001047	EFO:1001057	\N	"Any disease of the oral cavity" []	EFO:1001057	"A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." []	213143	\N	\N	EFO	1	EFO	mouth disease	necrotizing sialometaplasia
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001057	"A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." []	566924	\N	\N	EFO	2	EFO	digestive system disease	necrotizing sialometaplasia
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001057	"A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." []	566925	\N	\N	EFO	2	EFO	head disease	necrotizing sialometaplasia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001057	"A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." []	1148351	\N	\N	EFO	3	EFO	disease	necrotizing sialometaplasia
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001057	"A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." []	1148352	\N	\N	EFO	3	EFO	disease	necrotizing sialometaplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001057	"A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." []	2030616	\N	\N	EFO	4	EFO	disposition	necrotizing sialometaplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001057	"A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." []	3181267	\N	\N	EFO	5	EFO	material property	necrotizing sialometaplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001057	"A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." []	4389695	\N	\N	EFO	6	EFO	experimental factor	necrotizing sialometaplasia
EFO:1001058	\N	\N	"An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." []	EFO:1001058	"An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." []	70645	\N	\N	EFO	0	EFO	necrotizing ulcerative gingivitis	necrotizing ulcerative gingivitis
EFO:1001216	EFO:1001058	\N	"Any disease of the teeth" []	EFO:1001058	"An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." []	213144	\N	\N	EFO	1	EFO	tooth disease	necrotizing ulcerative gingivitis
EFO:1001047	EFO:1001216	\N	"Any disease of the oral cavity" []	EFO:1001058	"An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." []	566926	\N	\N	EFO	2	EFO	mouth disease	necrotizing ulcerative gingivitis
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001058	"An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." []	1148353	\N	\N	EFO	3	EFO	digestive system disease	necrotizing ulcerative gingivitis
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001058	"An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." []	1148354	\N	\N	EFO	3	EFO	head disease	necrotizing ulcerative gingivitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001058	"An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." []	2030617	\N	\N	EFO	4	EFO	disease	necrotizing ulcerative gingivitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001058	"An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." []	2030618	\N	\N	EFO	4	EFO	disease	necrotizing ulcerative gingivitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001058	"An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." []	3181268	\N	\N	EFO	5	EFO	disposition	necrotizing ulcerative gingivitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001058	"An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." []	4389696	\N	\N	EFO	6	EFO	material property	necrotizing ulcerative gingivitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001058	"An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." []	5409422	\N	\N	EFO	7	EFO	experimental factor	necrotizing ulcerative gingivitis
EFO:1001059	\N	\N	"A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" []	EFO:1001059	"A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" []	70646	\N	\N	EFO	0	EFO	neonatal myasthenia gravis	neonatal myasthenia gravis
EFO:0004991	EFO:1001059	\N	"A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)" []	EFO:1001059	"A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" []	213145	\N	\N	EFO	1	EFO	Myasthenia gravis	neonatal myasthenia gravis
EFO:0005140	EFO:0004991	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1001059	"A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" []	566927	\N	\N	EFO	2	EFO	autoimmune disease	neonatal myasthenia gravis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001059	"A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" []	1148355	\N	\N	EFO	3	EFO	immune system disease	neonatal myasthenia gravis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001059	"A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" []	2030619	\N	\N	EFO	4	EFO	disease	neonatal myasthenia gravis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001059	"A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" []	3181269	\N	\N	EFO	5	EFO	disposition	neonatal myasthenia gravis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001059	"A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" []	4389697	\N	\N	EFO	6	EFO	material property	neonatal myasthenia gravis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001059	"A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" []	5409423	\N	\N	EFO	7	EFO	experimental factor	neonatal myasthenia gravis
EFO:1001060	\N	\N	"A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." []	EFO:1001060	"A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." []	70647	\N	\N	EFO	0	EFO	neovascular glaucoma	neovascular glaucoma
EFO:0000516	EFO:1001060	\N	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	EFO:1001060	"A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." []	213146	\N	\N	EFO	1	EFO	glaucoma	neovascular glaucoma
EFO:0001058	EFO:0000516	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1001060	"A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." []	566928	\N	\N	EFO	2	EFO	sensory system disease	neovascular glaucoma
EFO:0003966	EFO:0000516	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001060	"A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." []	566929	\N	\N	EFO	2	EFO	eye disease	neovascular glaucoma
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001060	"A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." []	1148356	\N	\N	EFO	3	EFO	nervous system disease	neovascular glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001060	"A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." []	1148357	\N	\N	EFO	3	EFO	disease	neovascular glaucoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001060	"A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." []	2030620	\N	\N	EFO	4	EFO	disease	neovascular glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001060	"A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." []	3181270	\N	\N	EFO	5	EFO	disposition	neovascular glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001060	"A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." []	4133087	\N	\N	EFO	6	EFO	material property	neovascular glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001060	"A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber." []	5181328	\N	\N	EFO	7	EFO	experimental factor	neovascular glaucoma
EFO:1001061	\N	\N	"Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." []	EFO:1001061	"Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." []	70648	\N	\N	EFO	0	EFO	neurogenic bowel	neurogenic bowel
EFO:0000405	EFO:1001061	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001061	"Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." []	213147	\N	\N	EFO	1	EFO	digestive system disease	neurogenic bowel
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001061	"Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." []	566930	\N	\N	EFO	2	EFO	disease	neurogenic bowel
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001061	"Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." []	1148358	\N	\N	EFO	3	EFO	disposition	neurogenic bowel
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001061	"Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." []	2030622	\N	\N	EFO	4	EFO	material property	neurogenic bowel
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001061	"Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." []	3181272	\N	\N	EFO	5	EFO	experimental factor	neurogenic bowel
EFO:1001062	\N	\N	"An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS." []	EFO:1001062	"An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS." []	70649	\N	\N	EFO	0	EFO	nodular goiter	nodular goiter
EFO:0004283	EFO:1001062	\N	"Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." []	EFO:1001062	"An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS." []	213148	\N	\N	EFO	1	EFO	goiter	nodular goiter
EFO:0001379	EFO:0004283	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001062	"An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS." []	566931	\N	\N	EFO	2	EFO	endocrine system disease	nodular goiter
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001062	"An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS." []	1148359	\N	\N	EFO	3	EFO	disease	nodular goiter
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001062	"An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS." []	2030623	\N	\N	EFO	4	EFO	disposition	nodular goiter
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001062	"An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS." []	3181273	\N	\N	EFO	5	EFO	material property	nodular goiter
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001062	"An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS." []	4389699	\N	\N	EFO	6	EFO	experimental factor	nodular goiter
EFO:1001063	\N	\N	"A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" []	EFO:1001063	"A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" []	70650	\N	\N	EFO	0	EFO	noma	noma
EFO:0003938	EFO:1001063	\N	"A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)" []	EFO:1001063	"A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" []	213149	\N	\N	EFO	1	EFO	aphthous ulcer	noma
EFO:1001047	EFO:0003938	\N	"Any disease of the oral cavity" []	EFO:1001063	"A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" []	566932	\N	\N	EFO	2	EFO	mouth disease	noma
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001063	"A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" []	1148360	\N	\N	EFO	3	EFO	digestive system disease	noma
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001063	"A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" []	1148361	\N	\N	EFO	3	EFO	head disease	noma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001063	"A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" []	2030624	\N	\N	EFO	4	EFO	disease	noma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001063	"A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" []	2030625	\N	\N	EFO	4	EFO	disease	noma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001063	"A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" []	3181274	\N	\N	EFO	5	EFO	disposition	noma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001063	"A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" []	4389700	\N	\N	EFO	6	EFO	material property	noma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001063	"A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" []	5409424	\N	\N	EFO	7	EFO	experimental factor	noma
EFO:1001064	\N	\N	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	70651	\N	\N	EFO	0	EFO	non-gestational choriocarcinoma	non-gestational choriocarcinoma
EFO:0002893	EFO:1001064	\N	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	213150	\N	\N	EFO	1	EFO	choriocarcinoma	non-gestational choriocarcinoma
EFO:0000514	EFO:0002893	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	566933	\N	\N	EFO	2	EFO	germ cell tumor	non-gestational choriocarcinoma
EFO:0003859	EFO:0002893	\N	"Tumors or cancer of the UTERUS." []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	566934	\N	\N	EFO	2	EFO	uterine neoplasm	non-gestational choriocarcinoma
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	1148362	\N	\N	EFO	3	EFO	neoplasm	non-gestational choriocarcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	1148363	\N	\N	EFO	3	EFO	reproductive system disease	non-gestational choriocarcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	1148364	\N	\N	EFO	3	EFO	urogenital neoplasm	non-gestational choriocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	3181276	\N	\N	EFO	5	EFO	disease	non-gestational choriocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	2030627	\N	\N	EFO	4	EFO	disease	non-gestational choriocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	2030628	\N	\N	EFO	4	EFO	neoplasm	non-gestational choriocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	4133088	\N	\N	EFO	6	EFO	disposition	non-gestational choriocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	5181329	\N	\N	EFO	7	EFO	material property	non-gestational choriocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001064	"A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." []	5996756	\N	\N	EFO	8	EFO	experimental factor	non-gestational choriocarcinoma
EFO:1001065	\N	\N	"A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" []	EFO:1001065	"A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" []	70652	\N	\N	EFO	0	EFO	normal pressure hydrocephalus	normal pressure hydrocephalus
EFO:0000618	EFO:1001065	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001065	"A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" []	213151	\N	\N	EFO	1	EFO	nervous system disease	normal pressure hydrocephalus
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001065	"A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" []	566935	\N	\N	EFO	2	EFO	disease	normal pressure hydrocephalus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001065	"A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" []	1148365	\N	\N	EFO	3	EFO	disposition	normal pressure hydrocephalus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001065	"A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" []	2030629	\N	\N	EFO	4	EFO	material property	normal pressure hydrocephalus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001065	"A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" []	3181277	\N	\N	EFO	5	EFO	experimental factor	normal pressure hydrocephalus
EFO:1001066	\N	\N	"Allergic reaction to tree nuts that is triggered by the immune system." []	EFO:1001066	"Allergic reaction to tree nuts that is triggered by the immune system." []	70653	\N	\N	EFO	0	EFO	nut allergic reaction	nut allergic reaction
EFO:1001890	EFO:1001066	\N	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	EFO:1001066	"Allergic reaction to tree nuts that is triggered by the immune system." []	213152	\N	\N	EFO	1	EFO	food allergy	nut allergic reaction
EFO:0003785	EFO:1001890	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1001066	"Allergic reaction to tree nuts that is triggered by the immune system." []	566936	\N	\N	EFO	2	EFO	allergy	nut allergic reaction
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001066	"Allergic reaction to tree nuts that is triggered by the immune system." []	1148366	\N	\N	EFO	3	EFO	immune system disease	nut allergic reaction
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001066	"Allergic reaction to tree nuts that is triggered by the immune system." []	2030630	\N	\N	EFO	4	EFO	disease	nut allergic reaction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001066	"Allergic reaction to tree nuts that is triggered by the immune system." []	3181278	\N	\N	EFO	5	EFO	disposition	nut allergic reaction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001066	"Allergic reaction to tree nuts that is triggered by the immune system." []	4389702	\N	\N	EFO	6	EFO	material property	nut allergic reaction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001066	"Allergic reaction to tree nuts that is triggered by the immune system." []	5409426	\N	\N	EFO	7	EFO	experimental factor	nut allergic reaction
EFO:1001067	\N	\N	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	EFO:1001067	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	70654	\N	\N	EFO	0	EFO	nutritional deficiency disease	nutritional deficiency disease
EFO:0001069	EFO:1001067	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1001067	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	213153	\N	\N	EFO	1	EFO	nutritional disorder	nutritional deficiency disease
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001067	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	566937	\N	\N	EFO	2	EFO	metabolic disease	nutritional deficiency disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001067	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	1148367	\N	\N	EFO	3	EFO	disease	nutritional deficiency disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001067	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	2030631	\N	\N	EFO	4	EFO	disposition	nutritional deficiency disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001067	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	3181279	\N	\N	EFO	5	EFO	material property	nutritional deficiency disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001067	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	4389703	\N	\N	EFO	6	EFO	experimental factor	nutritional deficiency disease
EFO:1001068	\N	\N	"Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS." []	EFO:1001068	"Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS." []	70655	\N	\N	EFO	0	EFO	obstructive jaundice	obstructive jaundice
EFO:1000400	EFO:1001068	\N	"A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." []	EFO:1001068	"Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS." []	213154	\N	\N	EFO	1	EFO	Non-Neoplastic Bile Duct Disorder	obstructive jaundice
EFO:0001421	EFO:1000400	\N	"Pathological processes of the LIVER." []	EFO:1001068	"Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS." []	566938	\N	\N	EFO	2	EFO	liver disease	obstructive jaundice
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001068	"Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS." []	1148368	\N	\N	EFO	3	EFO	digestive system disease	obstructive jaundice
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001068	"Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS." []	1148369	\N	\N	EFO	3	EFO	endocrine system disease	obstructive jaundice
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001068	"Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS." []	2030632	\N	\N	EFO	4	EFO	disease	obstructive jaundice
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001068	"Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS." []	2030633	\N	\N	EFO	4	EFO	disease	obstructive jaundice
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001068	"Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS." []	3181280	\N	\N	EFO	5	EFO	disposition	obstructive jaundice
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001068	"Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS." []	4389704	\N	\N	EFO	6	EFO	material property	obstructive jaundice
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001068	"Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS." []	5409427	\N	\N	EFO	7	EFO	experimental factor	obstructive jaundice
EFO:1001069	\N	\N	"A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." []	EFO:1001069	"A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." []	70656	\N	\N	EFO	0	EFO	ocular hypertension	ocular hypertension
EFO:0000537	EFO:1001069	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:1001069	"A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." []	213155	\N	\N	EFO	1	EFO	hypertension	ocular hypertension
EFO:0003966	EFO:1001069	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001069	"A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." []	213156	\N	\N	EFO	1	EFO	eye disease	ocular hypertension
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001069	"A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." []	566939	\N	\N	EFO	2	EFO	cardiovascular disease	ocular hypertension
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001069	"A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." []	566940	\N	\N	EFO	2	EFO	disease	ocular hypertension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001069	"A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." []	1148370	\N	\N	EFO	3	EFO	disease	ocular hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001069	"A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." []	2030634	\N	\N	EFO	4	EFO	disposition	ocular hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001069	"A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." []	3000071	\N	\N	EFO	5	EFO	material property	ocular hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001069	"A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." []	4133089	\N	\N	EFO	6	EFO	experimental factor	ocular hypertension
EFO:1001070	\N	\N	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	EFO:1001070	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	70657	\N	\N	EFO	0	EFO	ocular tuberculosis	ocular tuberculosis
EFO:0003966	EFO:1001070	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001070	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	213157	\N	\N	EFO	1	EFO	eye disease	ocular tuberculosis
Orphanet:3389	EFO:1001070	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:1001070	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	213158	\N	\N	EFO	1	EFO	Tuberculosis	ocular tuberculosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001070	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	566941	\N	\N	EFO	2	EFO	disease	ocular tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001070	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	566942	\N	\N	EFO	2	EFO	respiratory system disease	ocular tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001070	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	566943	\N	\N	EFO	2	EFO	bacterial disease	ocular tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001070	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	3181283	\N	\N	EFO	5	EFO	disposition	ocular tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001070	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	1148373	\N	\N	EFO	3	EFO	disease	ocular tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001070	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	1148374	\N	\N	EFO	3	EFO	infectious disease	ocular tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001070	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	4066815	\N	\N	EFO	6	EFO	material property	ocular tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001070	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	2030638	\N	\N	EFO	4	EFO	disease	ocular tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001070	"Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." []	5059507	\N	\N	EFO	7	EFO	experimental factor	ocular tuberculosis
EFO:1001071	\N	\N	"Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix." []	EFO:1001071	"Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix." []	70658	\N	\N	EFO	0	EFO	oophoritis	oophoritis
EFO:0005771	EFO:1001071	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1001071	"Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix." []	213159	\N	\N	EFO	1	EFO	ovarian disease	oophoritis
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1001071	"Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix." []	566944	\N	\N	EFO	2	EFO	reproductive system disease	oophoritis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001071	"Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix." []	1148375	\N	\N	EFO	3	EFO	disease	oophoritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001071	"Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix." []	2030639	\N	\N	EFO	4	EFO	disposition	oophoritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001071	"Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix." []	3181284	\N	\N	EFO	5	EFO	material property	oophoritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001071	"Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix." []	4389705	\N	\N	EFO	6	EFO	experimental factor	oophoritis
EFO:1001072	\N	\N	"Infections with bacteria of the family MORAXELLACEAE." []	EFO:1001072	"Infections with bacteria of the family MORAXELLACEAE." []	70659	\N	\N	EFO	0	EFO	opportunistic Moraxellaceae infectious disease	opportunistic Moraxellaceae infectious disease
EFO:0000771	EFO:1001072	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001072	"Infections with bacteria of the family MORAXELLACEAE." []	213160	\N	\N	EFO	1	EFO	bacterial disease	opportunistic Moraxellaceae infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001072	"Infections with bacteria of the family MORAXELLACEAE." []	566945	\N	\N	EFO	2	EFO	infectious disease	opportunistic Moraxellaceae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001072	"Infections with bacteria of the family MORAXELLACEAE." []	1148376	\N	\N	EFO	3	EFO	disease	opportunistic Moraxellaceae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001072	"Infections with bacteria of the family MORAXELLACEAE." []	2030640	\N	\N	EFO	4	EFO	disposition	opportunistic Moraxellaceae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001072	"Infections with bacteria of the family MORAXELLACEAE." []	3181285	\N	\N	EFO	5	EFO	material property	opportunistic Moraxellaceae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001072	"Infections with bacteria of the family MORAXELLACEAE." []	4389706	\N	\N	EFO	6	EFO	experimental factor	opportunistic Moraxellaceae infectious disease
EFO:1001073	\N	\N	"Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." []	EFO:1001073	"Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." []	70660	\N	\N	EFO	0	EFO	optic nerve neoplasm	optic nerve neoplasm
EFO:0003833	EFO:1001073	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1001073	"Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." []	213161	\N	\N	EFO	1	EFO	brain neoplasm	optic nerve neoplasm
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001073	"Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." []	566946	\N	\N	EFO	2	EFO	neoplasm	optic nerve neoplasm
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1001073	"Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." []	566947	\N	\N	EFO	2	EFO	brain disease	optic nerve neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001073	"Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." []	1148377	\N	\N	EFO	3	EFO	disease	optic nerve neoplasm
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001073	"Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." []	1148378	\N	\N	EFO	3	EFO	nervous system disease	optic nerve neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001073	"Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." []	3181287	\N	\N	EFO	5	EFO	disposition	optic nerve neoplasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001073	"Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." []	2030642	\N	\N	EFO	4	EFO	disease	optic nerve neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001073	"Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." []	4133091	\N	\N	EFO	6	EFO	material property	optic nerve neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001073	"Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." []	5181330	\N	\N	EFO	7	EFO	experimental factor	optic nerve neoplasm
EFO:1001074	\N	\N	"Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" []	EFO:1001074	"Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" []	70661	\N	\N	EFO	0	EFO	optic papillitis	optic papillitis
EFO:0003966	EFO:1001074	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001074	"Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" []	213162	\N	\N	EFO	1	EFO	eye disease	optic papillitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001074	"Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" []	566948	\N	\N	EFO	2	EFO	disease	optic papillitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001074	"Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" []	1148379	\N	\N	EFO	3	EFO	disposition	optic papillitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001074	"Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" []	2030643	\N	\N	EFO	4	EFO	material property	optic papillitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001074	"Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" []	3181288	\N	\N	EFO	5	EFO	experimental factor	optic papillitis
EFO:1001075	\N	\N	"A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" []	EFO:1001075	"A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" []	70662	\N	\N	EFO	0	EFO	oral leukoedema	oral leukoedema
EFO:1001047	EFO:1001075	\N	"Any disease of the oral cavity" []	EFO:1001075	"A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" []	213163	\N	\N	EFO	1	EFO	mouth disease	oral leukoedema
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001075	"A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" []	566949	\N	\N	EFO	2	EFO	digestive system disease	oral leukoedema
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001075	"A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" []	566950	\N	\N	EFO	2	EFO	head disease	oral leukoedema
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001075	"A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" []	1148380	\N	\N	EFO	3	EFO	disease	oral leukoedema
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001075	"A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" []	1148381	\N	\N	EFO	3	EFO	disease	oral leukoedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001075	"A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" []	2030644	\N	\N	EFO	4	EFO	disposition	oral leukoedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001075	"A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" []	3181289	\N	\N	EFO	5	EFO	material property	oral leukoedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001075	"A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" []	4389708	\N	\N	EFO	6	EFO	experimental factor	oral leukoedema
EFO:1001076	\N	\N	"Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision." []	EFO:1001076	"Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision." []	70663	\N	\N	EFO	0	EFO	orbital cellulitis	orbital cellulitis
EFO:0000524	EFO:1001076	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001076	"Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision." []	213164	\N	\N	EFO	1	EFO	head disease	orbital cellulitis
EFO:0003035	EFO:1001076	\N	"Cellulitis is a bacterial infection involving the skin. It specifically affects the dermis and subcutaneous fat. Signs and symptoms include an area of redness which increases in size over a couple of days. The borders of the area of redness are generally not sharp and the skin may be swollen. While the redness often turns white when pressure is applied this is not always the case. The area of infection is usually painful. Lymphatic vessels may occasionally be involved and the person may have a fever and feel tired." []	EFO:1001076	"Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision." []	213165	\N	\N	EFO	1	EFO	cellulitis	orbital cellulitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001076	"Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision." []	566951	\N	\N	EFO	2	EFO	disease	orbital cellulitis
EFO:0000701	EFO:0003035	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001076	"Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision." []	566952	\N	\N	EFO	2	EFO	skin disease	orbital cellulitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001076	"Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision." []	2030646	\N	\N	EFO	4	EFO	disposition	orbital cellulitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001076	"Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision." []	1148383	\N	\N	EFO	3	EFO	disease	orbital cellulitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001076	"Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision." []	3000073	\N	\N	EFO	5	EFO	material property	orbital cellulitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001076	"Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision." []	4133092	\N	\N	EFO	6	EFO	experimental factor	orbital cellulitis
EFO:1001077	\N	\N	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	EFO:1001077	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	70664	\N	\N	EFO	0	EFO	orbital plasma cell granuloma	orbital plasma cell granuloma
EFO:0005950	EFO:1001077	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1001077	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	213166	\N	\N	EFO	1	EFO	head and neck neoplasia	orbital plasma cell granuloma
EFO:0007408	EFO:1001077	\N	"A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." []	EFO:1001077	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	213167	\N	\N	EFO	1	EFO	orbital cancer	orbital plasma cell granuloma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001077	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	566953	\N	\N	EFO	2	EFO	head disease	orbital plasma cell granuloma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001077	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	566954	\N	\N	EFO	2	EFO	neoplasm	orbital plasma cell granuloma
EFO:0003820	EFO:0007408	\N	"Tumors or cancer located in bone tissue or specific BONES." []	EFO:1001077	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	566955	\N	\N	EFO	2	EFO	bone neoplasm	orbital plasma cell granuloma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001077	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	1148384	\N	\N	EFO	3	EFO	disease	orbital plasma cell granuloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001077	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	2030648	\N	\N	EFO	4	EFO	disease	orbital plasma cell granuloma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001077	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	1148386	\N	\N	EFO	3	EFO	neoplasm	orbital plasma cell granuloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001077	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	3000074	\N	\N	EFO	5	EFO	disposition	orbital plasma cell granuloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001077	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	4133093	\N	\N	EFO	6	EFO	material property	orbital plasma cell granuloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001077	"A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." []	5181331	\N	\N	EFO	7	EFO	experimental factor	orbital plasma cell granuloma
EFO:1001078	\N	\N	"Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD." []	EFO:1001078	"Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD." []	70665	\N	\N	EFO	0	EFO	orchitis	orchitis
EFO:0000512	EFO:1001078	\N	"any diease of the reproductive system" []	EFO:1001078	"Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD." []	213168	\N	\N	EFO	1	EFO	reproductive system disease	orchitis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001078	"Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD." []	566956	\N	\N	EFO	2	EFO	disease	orchitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001078	"Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD." []	1148387	\N	\N	EFO	3	EFO	disposition	orchitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001078	"Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD." []	2030649	\N	\N	EFO	4	EFO	material property	orchitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001078	"Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD." []	3181292	\N	\N	EFO	5	EFO	experimental factor	orchitis
EFO:1001079	\N	\N	"A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." []	EFO:1001079	"A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." []	70666	\N	\N	EFO	0	EFO	oxyphilic adenoma	oxyphilic adenoma
EFO:0003769	EFO:1001079	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001079	"A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." []	213169	\N	\N	EFO	1	EFO	endocrine neoplasm	oxyphilic adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001079	"A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." []	566957	\N	\N	EFO	2	EFO	neoplasm	oxyphilic adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001079	"A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." []	566958	\N	\N	EFO	2	EFO	endocrine system disease	oxyphilic adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001079	"A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." []	1148388	\N	\N	EFO	3	EFO	disease	oxyphilic adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001079	"A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." []	1148389	\N	\N	EFO	3	EFO	disease	oxyphilic adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001079	"A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." []	2030650	\N	\N	EFO	4	EFO	disposition	oxyphilic adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001079	"A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." []	3181293	\N	\N	EFO	5	EFO	material property	oxyphilic adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001079	"A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." []	4389710	\N	\N	EFO	6	EFO	experimental factor	oxyphilic adenoma
EFO:1001080	\N	\N	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	70667	\N	\N	EFO	0	EFO	Pancoast tumor	Pancoast tumor
EFO:0001071	EFO:1001080	\N	"Tumors or cancer of the LUNG." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	213170	\N	\N	EFO	1	EFO	lung carcinoma	Pancoast tumor
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	566959	\N	\N	EFO	2	EFO	carcinoma	Pancoast tumor
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	566960	\N	\N	EFO	2	EFO	lung disease	Pancoast tumor
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	566961	\N	\N	EFO	2	EFO	respiratory system neoplasm	Pancoast tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	1148390	\N	\N	EFO	3	EFO	cancer	Pancoast tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	1148391	\N	\N	EFO	3	EFO	epithelial neoplasm	Pancoast tumor
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	1148392	\N	\N	EFO	3	EFO	respiratory system disease	Pancoast tumor
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	1148393	\N	\N	EFO	3	EFO	neoplasm	Pancoast tumor
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	1148394	\N	\N	EFO	3	EFO	respiratory system disease	Pancoast tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	2030651	\N	\N	EFO	4	EFO	neoplasm	Pancoast tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	2030652	\N	\N	EFO	4	EFO	neoplasm	Pancoast tumor
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	2030653	\N	\N	EFO	4	EFO	disease	Pancoast tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	3181294	\N	\N	EFO	5	EFO	disease	Pancoast tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	4133094	\N	\N	EFO	6	EFO	disposition	Pancoast tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	5181332	\N	\N	EFO	7	EFO	material property	Pancoast tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001080	"A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []	5996757	\N	\N	EFO	8	EFO	experimental factor	Pancoast tumor
EFO:1001081	\N	\N	"Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." []	EFO:1001081	"Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." []	70668	\N	\N	EFO	0	EFO	panophthalmitis	panophthalmitis
EFO:0003966	EFO:1001081	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001081	"Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." []	213171	\N	\N	EFO	1	EFO	eye disease	panophthalmitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001081	"Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." []	566962	\N	\N	EFO	2	EFO	disease	panophthalmitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001081	"Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." []	1148395	\N	\N	EFO	3	EFO	disposition	panophthalmitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001081	"Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." []	2030655	\N	\N	EFO	4	EFO	material property	panophthalmitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001081	"Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." []	3181296	\N	\N	EFO	5	EFO	experimental factor	panophthalmitis
EFO:1001082	\N	\N	"Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." []	EFO:1001082	"Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." []	70669	\N	\N	EFO	0	EFO	panuveitis	panuveitis
EFO:1001231	EFO:1001082	\N	"inflammation of one or all portions of the uveal tract" []	EFO:1001082	"Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." []	213172	\N	\N	EFO	1	EFO	uveitis	panuveitis
EFO:0003966	EFO:1001231	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001082	"Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." []	566963	\N	\N	EFO	2	EFO	eye disease	panuveitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001082	"Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." []	1148396	\N	\N	EFO	3	EFO	disease	panuveitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001082	"Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." []	2030656	\N	\N	EFO	4	EFO	disposition	panuveitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001082	"Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." []	3181297	\N	\N	EFO	5	EFO	material property	panuveitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001082	"Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." []	4389712	\N	\N	EFO	6	EFO	experimental factor	panuveitis
EFO:1001083	\N	\N	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	70670	\N	\N	EFO	0	EFO	papillary follicular thyroid adenocarcinoma	papillary follicular thyroid adenocarcinoma
EFO:0000641	EFO:1001083	\N	"A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	213173	\N	\N	EFO	1	EFO	papillary thyroid carcinoma	papillary follicular thyroid adenocarcinoma
EFO:0002892	EFO:0000641	\N	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	566964	\N	\N	EFO	2	EFO	thyroid carcinoma	papillary follicular thyroid adenocarcinoma
EFO:1002017	EFO:0000641	\N	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	566965	\N	\N	EFO	2	EFO	differentiated thyroid carcinoma	papillary follicular thyroid adenocarcinoma
EFO:0000313	EFO:0002892	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	1148397	\N	\N	EFO	3	EFO	carcinoma	papillary follicular thyroid adenocarcinoma
EFO:0003841	EFO:0002892	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	1148398	\N	\N	EFO	3	EFO	thyroid neoplasm	papillary follicular thyroid adenocarcinoma
EFO:0000313	EFO:1002017	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	1148399	\N	\N	EFO	3	EFO	carcinoma	papillary follicular thyroid adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	2030657	\N	\N	EFO	4	EFO	cancer	papillary follicular thyroid adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	2030658	\N	\N	EFO	4	EFO	epithelial neoplasm	papillary follicular thyroid adenocarcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	2030659	\N	\N	EFO	4	EFO	endocrine neoplasm	papillary follicular thyroid adenocarcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	2030660	\N	\N	EFO	4	EFO	thyroid disease	papillary follicular thyroid adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	3181298	\N	\N	EFO	5	EFO	neoplasm	papillary follicular thyroid adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	3181299	\N	\N	EFO	5	EFO	neoplasm	papillary follicular thyroid adenocarcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	3181300	\N	\N	EFO	5	EFO	neoplasm	papillary follicular thyroid adenocarcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	3181301	\N	\N	EFO	5	EFO	endocrine system disease	papillary follicular thyroid adenocarcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	3181302	\N	\N	EFO	5	EFO	endocrine system disease	papillary follicular thyroid adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	4389713	\N	\N	EFO	6	EFO	disease	papillary follicular thyroid adenocarcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	4389714	\N	\N	EFO	6	EFO	disease	papillary follicular thyroid adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	5409429	\N	\N	EFO	7	EFO	disposition	papillary follicular thyroid adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	6147651	\N	\N	EFO	8	EFO	material property	papillary follicular thyroid adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001083	"A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" []	6631878	\N	\N	EFO	9	EFO	experimental factor	papillary follicular thyroid adenocarcinoma
EFO:1001084	\N	\N	"Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT." []	EFO:1001084	"Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT." []	70671	\N	\N	EFO	0	EFO	parametritis	parametritis
EFO:0000512	EFO:1001084	\N	"any diease of the reproductive system" []	EFO:1001084	"Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT." []	213174	\N	\N	EFO	1	EFO	reproductive system disease	parametritis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001084	"Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT." []	566966	\N	\N	EFO	2	EFO	disease	parametritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001084	"Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT." []	1148400	\N	\N	EFO	3	EFO	disposition	parametritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001084	"Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT." []	2030661	\N	\N	EFO	4	EFO	material property	parametritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001084	"Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT." []	3181303	\N	\N	EFO	5	EFO	experimental factor	parametritis
EFO:1001085	\N	\N	"A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" []	EFO:1001085	"A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" []	70672	\N	\N	EFO	0	EFO	paraneoplastic polyneuropathy	paraneoplastic polyneuropathy
EFO:0003782	EFO:1001085	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	EFO:1001085	"A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" []	213175	\N	\N	EFO	1	EFO	motor neuron disease	paraneoplastic polyneuropathy
EFO:0004149	EFO:1001085	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001085	"A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" []	213176	\N	\N	EFO	1	EFO	neuropathy	paraneoplastic polyneuropathy
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:1001085	"A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" []	566967	\N	\N	EFO	2	EFO	neurodegenerative disease	paraneoplastic polyneuropathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001085	"A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" []	566968	\N	\N	EFO	2	EFO	nervous system disease	paraneoplastic polyneuropathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001085	"A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" []	1148401	\N	\N	EFO	3	EFO	nervous system disease	paraneoplastic polyneuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001085	"A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" []	2030662	\N	\N	EFO	4	EFO	disease	paraneoplastic polyneuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001085	"A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" []	3000075	\N	\N	EFO	5	EFO	disposition	paraneoplastic polyneuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001085	"A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" []	4133095	\N	\N	EFO	6	EFO	material property	paraneoplastic polyneuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001085	"A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" []	5181333	\N	\N	EFO	7	EFO	experimental factor	paraneoplastic polyneuropathy
EFO:1001086	\N	\N	"A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." []	EFO:1001086	"A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." []	70673	\N	\N	EFO	0	EFO	paraphimosis	paraphimosis
EFO:0000512	EFO:1001086	\N	"any diease of the reproductive system" []	EFO:1001086	"A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." []	213177	\N	\N	EFO	1	EFO	reproductive system disease	paraphimosis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001086	"A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." []	566969	\N	\N	EFO	2	EFO	disease	paraphimosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001086	"A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." []	1148403	\N	\N	EFO	3	EFO	disposition	paraphimosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001086	"A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." []	2030664	\N	\N	EFO	4	EFO	material property	paraphimosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001086	"A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." []	3181305	\N	\N	EFO	5	EFO	experimental factor	paraphimosis
EFO:1001087	\N	\N	"Tumors or cancer of the PARATHYROID GLANDS." []	EFO:1001087	"Tumors or cancer of the PARATHYROID GLANDS." []	70674	\N	\N	EFO	0	EFO	parathyroid adenoma	parathyroid adenoma
EFO:0002422	EFO:1001087	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1001087	"Tumors or cancer of the PARATHYROID GLANDS." []	213178	\N	\N	EFO	1	EFO	benign neoplasm	parathyroid adenoma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001087	"Tumors or cancer of the PARATHYROID GLANDS." []	566970	\N	\N	EFO	2	EFO	neoplasm	parathyroid adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001087	"Tumors or cancer of the PARATHYROID GLANDS." []	1148404	\N	\N	EFO	3	EFO	disease	parathyroid adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001087	"Tumors or cancer of the PARATHYROID GLANDS." []	2030665	\N	\N	EFO	4	EFO	disposition	parathyroid adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001087	"Tumors or cancer of the PARATHYROID GLANDS." []	3181306	\N	\N	EFO	5	EFO	material property	parathyroid adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001087	"Tumors or cancer of the PARATHYROID GLANDS." []	4389716	\N	\N	EFO	6	EFO	experimental factor	parathyroid adenoma
EFO:1001088	\N	\N	"Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." []	EFO:1001088	"Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." []	70675	\N	\N	EFO	0	EFO	pars planitis	pars planitis
EFO:1000986	EFO:1001088	\N	"Inflammation of the pars plana, ciliary body, and adjacent structures." []	EFO:1001088	"Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." []	213179	\N	\N	EFO	1	EFO	intermediate uveitis	pars planitis
EFO:1001231	EFO:1000986	\N	"inflammation of one or all portions of the uveal tract" []	EFO:1001088	"Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." []	566971	\N	\N	EFO	2	EFO	uveitis	pars planitis
EFO:0003966	EFO:1001231	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001088	"Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." []	1148405	\N	\N	EFO	3	EFO	eye disease	pars planitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001088	"Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." []	2030666	\N	\N	EFO	4	EFO	disease	pars planitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001088	"Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." []	3181307	\N	\N	EFO	5	EFO	disposition	pars planitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001088	"Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." []	4389717	\N	\N	EFO	6	EFO	material property	pars planitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001088	"Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." []	5409430	\N	\N	EFO	7	EFO	experimental factor	pars planitis
EFO:1001089	\N	\N	"A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." []	EFO:1001089	"A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." []	70676	\N	\N	EFO	0	EFO	partial motor epilepsy	partial motor epilepsy
EFO:0004263	EFO:1001089	\N	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	EFO:1001089	"A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." []	213180	\N	\N	EFO	1	EFO	partial epilepsy	partial motor epilepsy
EFO:0000474	EFO:0004263	\N	"A disorder characterized by recurrent seizures" []	EFO:1001089	"A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." []	566972	\N	\N	EFO	2	EFO	epilepsy	partial motor epilepsy
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:1001089	"A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." []	1148406	\N	\N	EFO	3	EFO	brain disease	partial motor epilepsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001089	"A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." []	2030667	\N	\N	EFO	4	EFO	nervous system disease	partial motor epilepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001089	"A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." []	3181308	\N	\N	EFO	5	EFO	disease	partial motor epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001089	"A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." []	4389718	\N	\N	EFO	6	EFO	disposition	partial motor epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001089	"A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." []	5409431	\N	\N	EFO	7	EFO	material property	partial motor epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001089	"A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." []	6147652	\N	\N	EFO	8	EFO	experimental factor	partial motor epilepsy
EFO:1001090	\N	\N	"A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." []	EFO:1001090	"A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." []	70677	\N	\N	EFO	0	EFO	partial sensory epilepsy	partial sensory epilepsy
EFO:0004263	EFO:1001090	\N	"Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)." []	EFO:1001090	"A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." []	213181	\N	\N	EFO	1	EFO	partial epilepsy	partial sensory epilepsy
EFO:0000474	EFO:0004263	\N	"A disorder characterized by recurrent seizures" []	EFO:1001090	"A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." []	566973	\N	\N	EFO	2	EFO	epilepsy	partial sensory epilepsy
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:1001090	"A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." []	1148407	\N	\N	EFO	3	EFO	brain disease	partial sensory epilepsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001090	"A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." []	2030668	\N	\N	EFO	4	EFO	nervous system disease	partial sensory epilepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001090	"A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." []	3181309	\N	\N	EFO	5	EFO	disease	partial sensory epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001090	"A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." []	4389719	\N	\N	EFO	6	EFO	disposition	partial sensory epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001090	"A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." []	5409432	\N	\N	EFO	7	EFO	material property	partial sensory epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001090	"A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." []	6147653	\N	\N	EFO	8	EFO	experimental factor	partial sensory epilepsy
EFO:1001091	\N	\N	"Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." []	EFO:1001091	"Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." []	70678	\N	\N	EFO	0	EFO	Pasteurella hemorrhagic septicemia	Pasteurella hemorrhagic septicemia
EFO:0000771	EFO:1001091	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001091	"Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." []	213182	\N	\N	EFO	1	EFO	bacterial disease	Pasteurella hemorrhagic septicemia
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001091	"Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." []	566974	\N	\N	EFO	2	EFO	infectious disease	Pasteurella hemorrhagic septicemia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001091	"Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." []	1148408	\N	\N	EFO	3	EFO	disease	Pasteurella hemorrhagic septicemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001091	"Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." []	2030669	\N	\N	EFO	4	EFO	disposition	Pasteurella hemorrhagic septicemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001091	"Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." []	3181310	\N	\N	EFO	5	EFO	material property	Pasteurella hemorrhagic septicemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001091	"Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." []	4389720	\N	\N	EFO	6	EFO	experimental factor	Pasteurella hemorrhagic septicemia
EFO:1001092	\N	\N	"A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." []	EFO:1001092	"A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." []	70679	\N	\N	EFO	0	EFO	patellofemoral pain syndrome	patellofemoral pain syndrome
EFO:1000999	EFO:1001092	\N	"Any disorder of the joints" []	EFO:1001092	"A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." []	213183	\N	\N	EFO	1	EFO	joint disease	patellofemoral pain syndrome
EFO:0002461	EFO:1000999	\N	"Any disease which affects part of the skeletal system." []	EFO:1001092	"A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." []	566975	\N	\N	EFO	2	EFO	skeletal system disease	patellofemoral pain syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001092	"A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." []	1148409	\N	\N	EFO	3	EFO	disease	patellofemoral pain syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001092	"A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." []	2030670	\N	\N	EFO	4	EFO	disposition	patellofemoral pain syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001092	"A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." []	3181311	\N	\N	EFO	5	EFO	material property	patellofemoral pain syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001092	"A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." []	4389721	\N	\N	EFO	6	EFO	experimental factor	patellofemoral pain syndrome
EFO:1001093	\N	\N	"Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures." []	EFO:1001093	"Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures." []	70680	\N	\N	EFO	0	EFO	Pelger-Huet anomaly	Pelger-Huet anomaly
EFO:0000508	EFO:1001093	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001093	"Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures." []	213184	\N	\N	EFO	1	EFO	genetic disorder	Pelger-Huet anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001093	"Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures." []	566976	\N	\N	EFO	2	EFO	disease	Pelger-Huet anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001093	"Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures." []	1148410	\N	\N	EFO	3	EFO	disposition	Pelger-Huet anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001093	"Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures." []	2030671	\N	\N	EFO	4	EFO	material property	Pelger-Huet anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001093	"Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures." []	3181312	\N	\N	EFO	5	EFO	experimental factor	Pelger-Huet anomaly
EFO:1001094	\N	\N	"Cancers or tumors of the PENIS or of its component tissues." []	EFO:1001094	"Cancers or tumors of the PENIS or of its component tissues." []	70681	\N	\N	EFO	0	EFO	penile neoplasm	penile neoplasm
EFO:0000512	EFO:1001094	\N	"any diease of the reproductive system" []	EFO:1001094	"Cancers or tumors of the PENIS or of its component tissues." []	213185	\N	\N	EFO	1	EFO	reproductive system disease	penile neoplasm
EFO:0003863	EFO:1001094	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001094	"Cancers or tumors of the PENIS or of its component tissues." []	213186	\N	\N	EFO	1	EFO	urogenital neoplasm	penile neoplasm
EFO:1000051	EFO:1001094	\N	"A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" []	EFO:1001094	"Cancers or tumors of the PENIS or of its component tissues." []	213187	\N	\N	EFO	1	EFO	reproductive system neoplasm	penile neoplasm
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001094	"Cancers or tumors of the PENIS or of its component tissues." []	566977	\N	\N	EFO	2	EFO	disease	penile neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001094	"Cancers or tumors of the PENIS or of its component tissues." []	566978	\N	\N	EFO	2	EFO	neoplasm	penile neoplasm
EFO:0000616	EFO:1000051	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001094	"Cancers or tumors of the PENIS or of its component tissues." []	566979	\N	\N	EFO	2	EFO	neoplasm	penile neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001094	"Cancers or tumors of the PENIS or of its component tissues." []	2030673	\N	\N	EFO	4	EFO	disposition	penile neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001094	"Cancers or tumors of the PENIS or of its component tissues." []	1148412	\N	\N	EFO	3	EFO	disease	penile neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001094	"Cancers or tumors of the PENIS or of its component tissues." []	3000076	\N	\N	EFO	5	EFO	material property	penile neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001094	"Cancers or tumors of the PENIS or of its component tissues." []	4133096	\N	\N	EFO	6	EFO	experimental factor	penile neoplasm
EFO:1001095	\N	\N	"INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM." []	EFO:1001095	"INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM." []	70682	\N	\N	EFO	0	EFO	peptic esophagitis	peptic esophagitis
EFO:0000405	EFO:1001095	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001095	"INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM." []	213188	\N	\N	EFO	1	EFO	digestive system disease	peptic esophagitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001095	"INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM." []	566980	\N	\N	EFO	2	EFO	disease	peptic esophagitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001095	"INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM." []	1148413	\N	\N	EFO	3	EFO	disposition	peptic esophagitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001095	"INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM." []	2030674	\N	\N	EFO	4	EFO	material property	peptic esophagitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001095	"INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM." []	3181314	\N	\N	EFO	5	EFO	experimental factor	peptic esophagitis
EFO:1001096	\N	\N	"Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." []	EFO:1001096	"Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." []	70683	\N	\N	EFO	0	EFO	periapical granuloma	periapical granuloma
EFO:0000649	EFO:1001096	\N	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	EFO:1001096	"Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." []	213189	\N	\N	EFO	1	EFO	periodontitis	periapical granuloma
EFO:0000524	EFO:0000649	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001096	"Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." []	566981	\N	\N	EFO	2	EFO	head disease	periapical granuloma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001096	"Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." []	1148414	\N	\N	EFO	3	EFO	disease	periapical granuloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001096	"Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." []	2030675	\N	\N	EFO	4	EFO	disposition	periapical granuloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001096	"Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." []	3181315	\N	\N	EFO	5	EFO	material property	periapical granuloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001096	"Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." []	4389722	\N	\N	EFO	6	EFO	experimental factor	periapical granuloma
EFO:1001097	\N	\N	"Inflammation of the tissues around a joint. (Dorland, 27th ed)" []	EFO:1001097	"Inflammation of the tissues around a joint. (Dorland, 27th ed)" []	70684	\N	\N	EFO	0	EFO	periarthritis	periarthritis
EFO:0005856	EFO:1001097	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:1001097	"Inflammation of the tissues around a joint. (Dorland, 27th ed)" []	213190	\N	\N	EFO	1	EFO	arthritis	periarthritis
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1001097	"Inflammation of the tissues around a joint. (Dorland, 27th ed)" []	566982	\N	\N	EFO	2	EFO	autoimmune disease	periarthritis
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:1001097	"Inflammation of the tissues around a joint. (Dorland, 27th ed)" []	566983	\N	\N	EFO	2	EFO	rheumatic disease	periarthritis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001097	"Inflammation of the tissues around a joint. (Dorland, 27th ed)" []	1148415	\N	\N	EFO	3	EFO	immune system disease	periarthritis
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:1001097	"Inflammation of the tissues around a joint. (Dorland, 27th ed)" []	1148416	\N	\N	EFO	3	EFO	skeletal system disease	periarthritis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001097	"Inflammation of the tissues around a joint. (Dorland, 27th ed)" []	2030676	\N	\N	EFO	4	EFO	disease	periarthritis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001097	"Inflammation of the tissues around a joint. (Dorland, 27th ed)" []	2030677	\N	\N	EFO	4	EFO	disease	periarthritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001097	"Inflammation of the tissues around a joint. (Dorland, 27th ed)" []	3181316	\N	\N	EFO	5	EFO	disposition	periarthritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001097	"Inflammation of the tissues around a joint. (Dorland, 27th ed)" []	4389723	\N	\N	EFO	6	EFO	material property	periarthritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001097	"Inflammation of the tissues around a joint. (Dorland, 27th ed)" []	5409433	\N	\N	EFO	7	EFO	experimental factor	periarthritis
EFO:1001098	\N	\N	"Inflammation of the gingiva surrounding the crown of a tooth." []	EFO:1001098	"Inflammation of the gingiva surrounding the crown of a tooth." []	70685	\N	\N	EFO	0	EFO	pericoronitis	pericoronitis
EFO:0000649	EFO:1001098	\N	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	EFO:1001098	"Inflammation of the gingiva surrounding the crown of a tooth." []	213191	\N	\N	EFO	1	EFO	periodontitis	pericoronitis
EFO:0000524	EFO:0000649	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001098	"Inflammation of the gingiva surrounding the crown of a tooth." []	566984	\N	\N	EFO	2	EFO	head disease	pericoronitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001098	"Inflammation of the gingiva surrounding the crown of a tooth." []	1148417	\N	\N	EFO	3	EFO	disease	pericoronitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001098	"Inflammation of the gingiva surrounding the crown of a tooth." []	2030678	\N	\N	EFO	4	EFO	disposition	pericoronitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001098	"Inflammation of the gingiva surrounding the crown of a tooth." []	3181317	\N	\N	EFO	5	EFO	material property	pericoronitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001098	"Inflammation of the gingiva surrounding the crown of a tooth." []	4389724	\N	\N	EFO	6	EFO	experimental factor	pericoronitis
EFO:1001099	\N	\N	"Inflammation of the connective and adipose tissues surrounding the KIDNEY." []	EFO:1001099	"Inflammation of the connective and adipose tissues surrounding the KIDNEY." []	70686	\N	\N	EFO	0	EFO	perinephritis	perinephritis
EFO:0003086	EFO:1001099	\N	"A disease affecting the kidneys" []	EFO:1001099	"Inflammation of the connective and adipose tissues surrounding the KIDNEY." []	213192	\N	\N	EFO	1	EFO	kidney disease	perinephritis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001099	"Inflammation of the connective and adipose tissues surrounding the KIDNEY." []	566985	\N	\N	EFO	2	EFO	disease	perinephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001099	"Inflammation of the connective and adipose tissues surrounding the KIDNEY." []	1148418	\N	\N	EFO	3	EFO	disposition	perinephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001099	"Inflammation of the connective and adipose tissues surrounding the KIDNEY." []	2030679	\N	\N	EFO	4	EFO	material property	perinephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001099	"Inflammation of the connective and adipose tissues surrounding the KIDNEY." []	3181318	\N	\N	EFO	5	EFO	experimental factor	perinephritis
EFO:1001100	\N	\N	"Tumors or cancer of the PERITONEUM." []	EFO:1001100	"Tumors or cancer of the PERITONEUM." []	70687	\N	\N	EFO	0	EFO	peritoneal neoplasm	peritoneal neoplasm
EFO:0000616	EFO:1001100	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001100	"Tumors or cancer of the PERITONEUM." []	213193	\N	\N	EFO	1	EFO	neoplasm	peritoneal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001100	"Tumors or cancer of the PERITONEUM." []	566986	\N	\N	EFO	2	EFO	disease	peritoneal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001100	"Tumors or cancer of the PERITONEUM." []	1148419	\N	\N	EFO	3	EFO	disposition	peritoneal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001100	"Tumors or cancer of the PERITONEUM." []	2030680	\N	\N	EFO	4	EFO	material property	peritoneal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001100	"Tumors or cancer of the PERITONEUM." []	3181319	\N	\N	EFO	5	EFO	experimental factor	peritoneal neoplasm
EFO:1001101	\N	\N	"Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)" []	EFO:1001101	"Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)" []	70688	\N	\N	EFO	0	EFO	periventricular leukomalacia	periventricular leukomalacia
EFO:0005774	EFO:1001101	\N	"A disease affecting the brain or part of the brain." []	EFO:1001101	"Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)" []	213194	\N	\N	EFO	1	EFO	brain disease	periventricular leukomalacia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001101	"Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)" []	566987	\N	\N	EFO	2	EFO	nervous system disease	periventricular leukomalacia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001101	"Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)" []	1148420	\N	\N	EFO	3	EFO	disease	periventricular leukomalacia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001101	"Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)" []	2030681	\N	\N	EFO	4	EFO	disposition	periventricular leukomalacia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001101	"Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)" []	3181320	\N	\N	EFO	5	EFO	material property	periventricular leukomalacia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001101	"Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)" []	4389725	\N	\N	EFO	6	EFO	experimental factor	periventricular leukomalacia
EFO:1001102	\N	\N	"Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" []	EFO:1001102	"Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" []	70689	\N	\N	EFO	0	EFO	peroneal nerve paralysis	peroneal nerve paralysis
EFO:0000618	EFO:1001102	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001102	"Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" []	213195	\N	\N	EFO	1	EFO	nervous system disease	peroneal nerve paralysis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001102	"Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" []	566988	\N	\N	EFO	2	EFO	disease	peroneal nerve paralysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001102	"Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" []	1148421	\N	\N	EFO	3	EFO	disposition	peroneal nerve paralysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001102	"Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" []	2030682	\N	\N	EFO	4	EFO	material property	peroneal nerve paralysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001102	"Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" []	3181321	\N	\N	EFO	5	EFO	experimental factor	peroneal nerve paralysis
EFO:1001103	\N	\N	"A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." []	EFO:1001103	"A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." []	70690	\N	\N	EFO	0	EFO	persistent fetal circulation syndrome	persistent fetal circulation syndrome
EFO:0001361	EFO:1001103	\N	"Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." []	EFO:1001103	"A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." []	213196	\N	\N	EFO	1	EFO	pulmonary hypertension	persistent fetal circulation syndrome
EFO:0000537	EFO:0001361	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:1001103	"A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." []	566989	\N	\N	EFO	2	EFO	hypertension	persistent fetal circulation syndrome
EFO:0004264	EFO:0001361	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001103	"A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." []	566990	\N	\N	EFO	2	EFO	vascular disease	persistent fetal circulation syndrome
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001103	"A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." []	1148422	\N	\N	EFO	3	EFO	cardiovascular disease	persistent fetal circulation syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001103	"A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." []	1148423	\N	\N	EFO	3	EFO	cardiovascular disease	persistent fetal circulation syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001103	"A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." []	2030683	\N	\N	EFO	4	EFO	disease	persistent fetal circulation syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001103	"A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." []	3181322	\N	\N	EFO	5	EFO	disposition	persistent fetal circulation syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001103	"A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." []	4389726	\N	\N	EFO	6	EFO	material property	persistent fetal circulation syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001103	"A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." []	5409434	\N	\N	EFO	7	EFO	experimental factor	persistent fetal circulation syndrome
EFO:1001104	\N	\N	"A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening." []	EFO:1001104	"A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening." []	70691	\N	\N	EFO	0	EFO	phimosis	phimosis
EFO:0000512	EFO:1001104	\N	"any diease of the reproductive system" []	EFO:1001104	"A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening." []	213197	\N	\N	EFO	1	EFO	reproductive system disease	phimosis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001104	"A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening." []	566991	\N	\N	EFO	2	EFO	disease	phimosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001104	"A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening." []	1148424	\N	\N	EFO	3	EFO	disposition	phimosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001104	"A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening." []	2030684	\N	\N	EFO	4	EFO	material property	phimosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001104	"A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening." []	3181323	\N	\N	EFO	5	EFO	experimental factor	phimosis
EFO:1001105	\N	\N	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	EFO:1001105	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	70692	\N	\N	EFO	0	EFO	pigmented spindle cell nevus	pigmented spindle cell nevus
EFO:0000625	EFO:1001105	\N	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	EFO:1001105	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	213198	\N	\N	EFO	1	EFO	nevus	pigmented spindle cell nevus
EFO:0002422	EFO:0000625	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1001105	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	566992	\N	\N	EFO	2	EFO	benign neoplasm	pigmented spindle cell nevus
EFO:0004198	EFO:0000625	\N	"Tumors or cancer of the SKIN." []	EFO:1001105	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	566993	\N	\N	EFO	2	EFO	skin neoplasm	pigmented spindle cell nevus
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001105	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	1148425	\N	\N	EFO	3	EFO	neoplasm	pigmented spindle cell nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001105	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	1148426	\N	\N	EFO	3	EFO	neoplasm	pigmented spindle cell nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001105	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	1148427	\N	\N	EFO	3	EFO	skin disease	pigmented spindle cell nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001105	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	2030685	\N	\N	EFO	4	EFO	disease	pigmented spindle cell nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001105	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	2030686	\N	\N	EFO	4	EFO	disease	pigmented spindle cell nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001105	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	3181324	\N	\N	EFO	5	EFO	disposition	pigmented spindle cell nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001105	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	4389727	\N	\N	EFO	6	EFO	material property	pigmented spindle cell nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001105	"A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" []	5409435	\N	\N	EFO	7	EFO	experimental factor	pigmented spindle cell nevus
EFO:1001106	\N	\N	"Outgrowths of synovial membrane composed of villi and fibrous nodules characterized histologically by hemosiderin- and lipid-containing macrophages and multinucleated giant cells. It usually occurs in the knee." []	EFO:1001106	"Outgrowths of synovial membrane composed of villi and fibrous nodules characterized histologically by hemosiderin- and lipid-containing macrophages and multinucleated giant cells. It usually occurs in the knee." []	70693	\N	\N	EFO	0	EFO	pigmented villonodular synovitis	pigmented villonodular synovitis
EFO:1000562	EFO:1001106	\N	"A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." []	EFO:1001106	"Outgrowths of synovial membrane composed of villi and fibrous nodules characterized histologically by hemosiderin- and lipid-containing macrophages and multinucleated giant cells. It usually occurs in the knee." []	213199	\N	\N	EFO	1	EFO	Tenosynovial Giant Cell Tumor	pigmented villonodular synovitis
EFO:0000616	EFO:1000562	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001106	"Outgrowths of synovial membrane composed of villi and fibrous nodules characterized histologically by hemosiderin- and lipid-containing macrophages and multinucleated giant cells. It usually occurs in the knee." []	566994	\N	\N	EFO	2	EFO	neoplasm	pigmented villonodular synovitis
EFO:0002461	EFO:1000562	\N	"Any disease which affects part of the skeletal system." []	EFO:1001106	"Outgrowths of synovial membrane composed of villi and fibrous nodules characterized histologically by hemosiderin- and lipid-containing macrophages and multinucleated giant cells. It usually occurs in the knee." []	566995	\N	\N	EFO	2	EFO	skeletal system disease	pigmented villonodular synovitis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001106	"Outgrowths of synovial membrane composed of villi and fibrous nodules characterized histologically by hemosiderin- and lipid-containing macrophages and multinucleated giant cells. It usually occurs in the knee." []	1148428	\N	\N	EFO	3	EFO	disease	pigmented villonodular synovitis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001106	"Outgrowths of synovial membrane composed of villi and fibrous nodules characterized histologically by hemosiderin- and lipid-containing macrophages and multinucleated giant cells. It usually occurs in the knee." []	1148429	\N	\N	EFO	3	EFO	disease	pigmented villonodular synovitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001106	"Outgrowths of synovial membrane composed of villi and fibrous nodules characterized histologically by hemosiderin- and lipid-containing macrophages and multinucleated giant cells. It usually occurs in the knee." []	2030687	\N	\N	EFO	4	EFO	disposition	pigmented villonodular synovitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001106	"Outgrowths of synovial membrane composed of villi and fibrous nodules characterized histologically by hemosiderin- and lipid-containing macrophages and multinucleated giant cells. It usually occurs in the knee." []	3181325	\N	\N	EFO	5	EFO	material property	pigmented villonodular synovitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001106	"Outgrowths of synovial membrane composed of villi and fibrous nodules characterized histologically by hemosiderin- and lipid-containing macrophages and multinucleated giant cells. It usually occurs in the knee." []	4389728	\N	\N	EFO	6	EFO	experimental factor	pigmented villonodular synovitis
EFO:1001107	\N	\N	"A neoplasm composed of squamous or epidermal cells." []	EFO:1001107	"A neoplasm composed of squamous or epidermal cells." []	70694	\N	\N	EFO	0	EFO	pilar sheath acanthoma	pilar sheath acanthoma
EFO:0000616	EFO:1001107	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001107	"A neoplasm composed of squamous or epidermal cells." []	213200	\N	\N	EFO	1	EFO	neoplasm	pilar sheath acanthoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001107	"A neoplasm composed of squamous or epidermal cells." []	566996	\N	\N	EFO	2	EFO	disease	pilar sheath acanthoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001107	"A neoplasm composed of squamous or epidermal cells." []	1148430	\N	\N	EFO	3	EFO	disposition	pilar sheath acanthoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001107	"A neoplasm composed of squamous or epidermal cells." []	2030688	\N	\N	EFO	4	EFO	material property	pilar sheath acanthoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001107	"A neoplasm composed of squamous or epidermal cells." []	3181326	\N	\N	EFO	5	EFO	experimental factor	pilar sheath acanthoma
EFO:1001108	\N	\N	"The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." []	EFO:1001108	"The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." []	70695	\N	\N	EFO	0	EFO	pituitary apoplexy	pituitary apoplexy
EFO:0001380	EFO:1001108	\N	"Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions." []	EFO:1001108	"The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." []	213201	\N	\N	EFO	1	EFO	hypopituitarism	pituitary apoplexy
EFO:0005774	EFO:1001108	\N	"A disease affecting the brain or part of the brain." []	EFO:1001108	"The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." []	213202	\N	\N	EFO	1	EFO	brain disease	pituitary apoplexy
EFO:0001379	EFO:0001380	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001108	"The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." []	566997	\N	\N	EFO	2	EFO	endocrine system disease	pituitary apoplexy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001108	"The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." []	566998	\N	\N	EFO	2	EFO	nervous system disease	pituitary apoplexy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001108	"The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." []	1148431	\N	\N	EFO	3	EFO	disease	pituitary apoplexy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001108	"The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." []	1148432	\N	\N	EFO	3	EFO	disease	pituitary apoplexy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001108	"The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." []	2030689	\N	\N	EFO	4	EFO	disposition	pituitary apoplexy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001108	"The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." []	3181327	\N	\N	EFO	5	EFO	material property	pituitary apoplexy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001108	"The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." []	4389729	\N	\N	EFO	6	EFO	experimental factor	pituitary apoplexy
EFO:1001109	\N	\N	"A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." []	EFO:1001109	"A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." []	70696	\N	\N	EFO	0	EFO	pituitary dwarfism	pituitary dwarfism
EFO:0005539	EFO:1001109	\N	"An endocrine system disease that is located_in the adrenal gland." []	EFO:1001109	"A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." []	213203	\N	\N	EFO	1	EFO	adrenal gland disease	pituitary dwarfism
EFO:0005774	EFO:1001109	\N	"A disease affecting the brain or part of the brain." []	EFO:1001109	"A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." []	213204	\N	\N	EFO	1	EFO	brain disease	pituitary dwarfism
EFO:0001379	EFO:0005539	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001109	"A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." []	566999	\N	\N	EFO	2	EFO	endocrine system disease	pituitary dwarfism
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001109	"A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." []	567000	\N	\N	EFO	2	EFO	nervous system disease	pituitary dwarfism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001109	"A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." []	1148433	\N	\N	EFO	3	EFO	disease	pituitary dwarfism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001109	"A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." []	1148434	\N	\N	EFO	3	EFO	disease	pituitary dwarfism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001109	"A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." []	2030690	\N	\N	EFO	4	EFO	disposition	pituitary dwarfism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001109	"A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." []	3181328	\N	\N	EFO	5	EFO	material property	pituitary dwarfism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001109	"A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development." []	4389730	\N	\N	EFO	6	EFO	experimental factor	pituitary dwarfism
EFO:1001110	\N	\N	"A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." []	EFO:1001110	"A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." []	70697	\N	\N	EFO	0	EFO	pituitary-dependent Cushing's disease	pituitary-dependent Cushing's disease
EFO:0003099	EFO:1001110	\N	"Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland." []	EFO:1001110	"A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." []	213205	\N	\N	EFO	1	EFO	Cushing syndrome	pituitary-dependent Cushing's disease
EFO:0005774	EFO:1001110	\N	"A disease affecting the brain or part of the brain." []	EFO:1001110	"A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." []	213206	\N	\N	EFO	1	EFO	brain disease	pituitary-dependent Cushing's disease
EFO:0001379	EFO:0003099	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001110	"A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." []	567001	\N	\N	EFO	2	EFO	endocrine system disease	pituitary-dependent Cushing's disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001110	"A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." []	567002	\N	\N	EFO	2	EFO	nervous system disease	pituitary-dependent Cushing's disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001110	"A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." []	1148435	\N	\N	EFO	3	EFO	disease	pituitary-dependent Cushing's disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001110	"A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." []	1148436	\N	\N	EFO	3	EFO	disease	pituitary-dependent Cushing's disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001110	"A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." []	2030691	\N	\N	EFO	4	EFO	disposition	pituitary-dependent Cushing's disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001110	"A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." []	3181329	\N	\N	EFO	5	EFO	material property	pituitary-dependent Cushing's disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001110	"A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." []	4389731	\N	\N	EFO	6	EFO	experimental factor	pituitary-dependent Cushing's disease
EFO:1001111	\N	\N	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	70698	\N	\N	EFO	0	EFO	placental site trophoblastic tumor	placental site trophoblastic tumor
EFO:0002893	EFO:1001111	\N	"An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	213207	\N	\N	EFO	1	EFO	choriocarcinoma	placental site trophoblastic tumor
EFO:0000514	EFO:0002893	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	567003	\N	\N	EFO	2	EFO	germ cell tumor	placental site trophoblastic tumor
EFO:0003859	EFO:0002893	\N	"Tumors or cancer of the UTERUS." []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	567004	\N	\N	EFO	2	EFO	uterine neoplasm	placental site trophoblastic tumor
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	1148437	\N	\N	EFO	3	EFO	neoplasm	placental site trophoblastic tumor
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	1148438	\N	\N	EFO	3	EFO	reproductive system disease	placental site trophoblastic tumor
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	1148439	\N	\N	EFO	3	EFO	urogenital neoplasm	placental site trophoblastic tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	3181331	\N	\N	EFO	5	EFO	disease	placental site trophoblastic tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	2030693	\N	\N	EFO	4	EFO	disease	placental site trophoblastic tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	2030694	\N	\N	EFO	4	EFO	neoplasm	placental site trophoblastic tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	4133097	\N	\N	EFO	6	EFO	disposition	placental site trophoblastic tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	5181334	\N	\N	EFO	7	EFO	material property	placental site trophoblastic tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001111	"An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected." []	5996758	\N	\N	EFO	8	EFO	experimental factor	placental site trophoblastic tumor
EFO:1001112	\N	\N	"Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored." []	EFO:1001112	"Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored." []	70699	\N	\N	EFO	0	EFO	platelet storage pool deficiency	platelet storage pool deficiency
EFO:0005803	EFO:1001112	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001112	"Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored." []	213208	\N	\N	EFO	1	EFO	hematological system disease	platelet storage pool deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001112	"Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored." []	567005	\N	\N	EFO	2	EFO	disease	platelet storage pool deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001112	"Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored." []	1148440	\N	\N	EFO	3	EFO	disposition	platelet storage pool deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001112	"Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored." []	2030695	\N	\N	EFO	4	EFO	material property	platelet storage pool deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001112	"Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored." []	3181332	\N	\N	EFO	5	EFO	experimental factor	platelet storage pool deficiency
EFO:1001113	\N	\N	"A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM." []	EFO:1001113	"A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM." []	70700	\N	\N	EFO	0	EFO	pneumatosis cystoides intestinalis	pneumatosis cystoides intestinalis
EFO:0000405	EFO:1001113	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001113	"A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM." []	213209	\N	\N	EFO	1	EFO	digestive system disease	pneumatosis cystoides intestinalis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001113	"A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM." []	567006	\N	\N	EFO	2	EFO	disease	pneumatosis cystoides intestinalis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001113	"A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM." []	1148441	\N	\N	EFO	3	EFO	disposition	pneumatosis cystoides intestinalis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001113	"A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM." []	2030696	\N	\N	EFO	4	EFO	material property	pneumatosis cystoides intestinalis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001113	"A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM." []	3181333	\N	\N	EFO	5	EFO	experimental factor	pneumatosis cystoides intestinalis
EFO:1001114	\N	\N	"An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" []	EFO:1001114	"An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" []	70701	\N	\N	EFO	0	EFO	pneumococcal meningitis	pneumococcal meningitis
EFO:1000831	EFO:1001114	\N	"Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots." []	EFO:1001114	"An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" []	213210	\N	\N	EFO	1	EFO	bacterial meningitis	pneumococcal meningitis
EFO:0000584	EFO:1000831	\N	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	EFO:1001114	"An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" []	567007	\N	\N	EFO	2	EFO	infectious meningitis	pneumococcal meningitis
EFO:0005741	EFO:0000584	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001114	"An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" []	1148442	\N	\N	EFO	3	EFO	infectious disease	pneumococcal meningitis
EFO:0005774	EFO:0000584	\N	"A disease affecting the brain or part of the brain." []	EFO:1001114	"An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" []	1148443	\N	\N	EFO	3	EFO	brain disease	pneumococcal meningitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001114	"An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" []	2030697	\N	\N	EFO	4	EFO	disease	pneumococcal meningitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001114	"An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" []	2030698	\N	\N	EFO	4	EFO	nervous system disease	pneumococcal meningitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001114	"An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" []	4389734	\N	\N	EFO	6	EFO	disposition	pneumococcal meningitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001114	"An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" []	3181335	\N	\N	EFO	5	EFO	disease	pneumococcal meningitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001114	"An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" []	5181335	\N	\N	EFO	7	EFO	material property	pneumococcal meningitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001114	"An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" []	5996759	\N	\N	EFO	8	EFO	experimental factor	pneumococcal meningitis
EFO:1001115	\N	\N	"A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)" []	EFO:1001115	"A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)" []	70702	\N	\N	EFO	0	EFO	POEMS syndrome	POEMS syndrome
EFO:0000540	EFO:1001115	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001115	"A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)" []	213211	\N	\N	EFO	1	EFO	immune system disease	POEMS syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001115	"A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)" []	567008	\N	\N	EFO	2	EFO	disease	POEMS syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001115	"A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)" []	1148444	\N	\N	EFO	3	EFO	disposition	POEMS syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001115	"A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)" []	2030699	\N	\N	EFO	4	EFO	material property	POEMS syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001115	"A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)" []	3181336	\N	\N	EFO	5	EFO	experimental factor	POEMS syndrome
EFO:1001116	\N	\N	"Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." []	EFO:1001116	"Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." []	70703	\N	\N	EFO	0	EFO	polyradiculoneuropathy	polyradiculoneuropathy
EFO:0004149	EFO:1001116	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001116	"Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." []	213212	\N	\N	EFO	1	EFO	neuropathy	polyradiculoneuropathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001116	"Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." []	567009	\N	\N	EFO	2	EFO	nervous system disease	polyradiculoneuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001116	"Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." []	1148445	\N	\N	EFO	3	EFO	disease	polyradiculoneuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001116	"Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." []	2030700	\N	\N	EFO	4	EFO	disposition	polyradiculoneuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001116	"Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." []	3181337	\N	\N	EFO	5	EFO	material property	polyradiculoneuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001116	"Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." []	4389735	\N	\N	EFO	6	EFO	experimental factor	polyradiculoneuropathy
EFO:1001117	\N	\N	"Abdominal symptoms after removal of the GALLBLADDER. The common postoperative symptoms are often the same as those present before the operation, such as COLIC, bloating, NAUSEA, and VOMITING. There is pain on palpation of the right upper quadrant and sometimes JAUNDICE. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." []	EFO:1001117	"Abdominal symptoms after removal of the GALLBLADDER. The common postoperative symptoms are often the same as those present before the operation, such as COLIC, bloating, NAUSEA, and VOMITING. There is pain on palpation of the right upper quadrant and sometimes JAUNDICE. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." []	70704	\N	\N	EFO	0	EFO	postcholecystectomy syndrome	postcholecystectomy syndrome
EFO:1000018	EFO:1001117	\N	"A disorder affecting the urinary bladder" []	EFO:1001117	"Abdominal symptoms after removal of the GALLBLADDER. The common postoperative symptoms are often the same as those present before the operation, such as COLIC, bloating, NAUSEA, and VOMITING. There is pain on palpation of the right upper quadrant and sometimes JAUNDICE. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." []	213213	\N	\N	EFO	1	EFO	bladder disease	postcholecystectomy syndrome
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001117	"Abdominal symptoms after removal of the GALLBLADDER. The common postoperative symptoms are often the same as those present before the operation, such as COLIC, bloating, NAUSEA, and VOMITING. There is pain on palpation of the right upper quadrant and sometimes JAUNDICE. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." []	567010	\N	\N	EFO	2	EFO	disease	postcholecystectomy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001117	"Abdominal symptoms after removal of the GALLBLADDER. The common postoperative symptoms are often the same as those present before the operation, such as COLIC, bloating, NAUSEA, and VOMITING. There is pain on palpation of the right upper quadrant and sometimes JAUNDICE. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." []	1148446	\N	\N	EFO	3	EFO	disposition	postcholecystectomy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001117	"Abdominal symptoms after removal of the GALLBLADDER. The common postoperative symptoms are often the same as those present before the operation, such as COLIC, bloating, NAUSEA, and VOMITING. There is pain on palpation of the right upper quadrant and sometimes JAUNDICE. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." []	2030701	\N	\N	EFO	4	EFO	material property	postcholecystectomy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001117	"Abdominal symptoms after removal of the GALLBLADDER. The common postoperative symptoms are often the same as those present before the operation, such as COLIC, bloating, NAUSEA, and VOMITING. There is pain on palpation of the right upper quadrant and sometimes JAUNDICE. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." []	3181338	\N	\N	EFO	5	EFO	experimental factor	postcholecystectomy syndrome
EFO:1001118	\N	\N	"NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)." []	EFO:1001118	"NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)." []	70705	\N	\N	EFO	0	EFO	posterior cerebral artery infarction	posterior cerebral artery infarction
EFO:0003763	EFO:1001118	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1001118	"NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)." []	213214	\N	\N	EFO	1	EFO	cerebrovascular disorder	posterior cerebral artery infarction
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001118	"NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)." []	567011	\N	\N	EFO	2	EFO	vascular disease	posterior cerebral artery infarction
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001118	"NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)." []	1148447	\N	\N	EFO	3	EFO	cardiovascular disease	posterior cerebral artery infarction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001118	"NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)." []	2030702	\N	\N	EFO	4	EFO	disease	posterior cerebral artery infarction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001118	"NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)." []	3181339	\N	\N	EFO	5	EFO	disposition	posterior cerebral artery infarction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001118	"NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)." []	4389736	\N	\N	EFO	6	EFO	material property	posterior cerebral artery infarction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001118	"NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)." []	5409438	\N	\N	EFO	7	EFO	experimental factor	posterior cerebral artery infarction
EFO:1001119	\N	\N	"Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." []	EFO:1001119	"Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." []	70706	\N	\N	EFO	0	EFO	posterior uveitis	posterior uveitis
EFO:1001082	EFO:1001119	\N	"Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." []	EFO:1001119	"Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." []	213215	\N	\N	EFO	1	EFO	panuveitis	posterior uveitis
EFO:1001231	EFO:1001082	\N	"inflammation of one or all portions of the uveal tract" []	EFO:1001119	"Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." []	567012	\N	\N	EFO	2	EFO	uveitis	posterior uveitis
EFO:0003966	EFO:1001231	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001119	"Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." []	1148448	\N	\N	EFO	3	EFO	eye disease	posterior uveitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001119	"Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." []	2030703	\N	\N	EFO	4	EFO	disease	posterior uveitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001119	"Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." []	3181340	\N	\N	EFO	5	EFO	disposition	posterior uveitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001119	"Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." []	4389737	\N	\N	EFO	6	EFO	material property	posterior uveitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001119	"Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." []	5409439	\N	\N	EFO	7	EFO	experimental factor	posterior uveitis
EFO:1001120	\N	\N	"A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)" []	EFO:1001120	"A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)" []	70707	\N	\N	EFO	0	EFO	potassium deficiency	potassium deficiency
EFO:1001067	EFO:1001120	\N	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	EFO:1001120	"A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)" []	213216	\N	\N	EFO	1	EFO	nutritional deficiency disease	potassium deficiency
EFO:0001069	EFO:1001067	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1001120	"A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)" []	567013	\N	\N	EFO	2	EFO	nutritional disorder	potassium deficiency
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001120	"A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)" []	1148449	\N	\N	EFO	3	EFO	metabolic disease	potassium deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001120	"A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)" []	2030704	\N	\N	EFO	4	EFO	disease	potassium deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001120	"A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)" []	3181341	\N	\N	EFO	5	EFO	disposition	potassium deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001120	"A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)" []	4389738	\N	\N	EFO	6	EFO	material property	potassium deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001120	"A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)" []	5409440	\N	\N	EFO	7	EFO	experimental factor	potassium deficiency
EFO:1001121	\N	\N	"The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2)." []	EFO:1001121	"The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2)." []	70708	\N	\N	EFO	0	EFO	prediabetes syndrome	prediabetes syndrome
EFO:0000400	EFO:1001121	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	EFO:1001121	"The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2)." []	213217	\N	\N	EFO	1	EFO	diabetes mellitus	prediabetes syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001121	"The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2)." []	567014	\N	\N	EFO	2	EFO	metabolic disease	prediabetes syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001121	"The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2)." []	1148450	\N	\N	EFO	3	EFO	disease	prediabetes syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001121	"The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2)." []	2030705	\N	\N	EFO	4	EFO	disposition	prediabetes syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001121	"The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2)." []	3181342	\N	\N	EFO	5	EFO	material property	prediabetes syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001121	"The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2)." []	4389739	\N	\N	EFO	6	EFO	experimental factor	prediabetes syndrome
EFO:1001122	\N	\N	"Infections with bacteria of the order ACTINOMYCETALES." []	EFO:1001122	"Infections with bacteria of the order ACTINOMYCETALES." []	70709	\N	\N	EFO	0	EFO	primary Actinomycetales infectious disease	primary Actinomycetales infectious disease
EFO:0000771	EFO:1001122	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001122	"Infections with bacteria of the order ACTINOMYCETALES." []	213218	\N	\N	EFO	1	EFO	bacterial disease	primary Actinomycetales infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001122	"Infections with bacteria of the order ACTINOMYCETALES." []	567015	\N	\N	EFO	2	EFO	infectious disease	primary Actinomycetales infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001122	"Infections with bacteria of the order ACTINOMYCETALES." []	1148451	\N	\N	EFO	3	EFO	disease	primary Actinomycetales infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001122	"Infections with bacteria of the order ACTINOMYCETALES." []	2030706	\N	\N	EFO	4	EFO	disposition	primary Actinomycetales infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001122	"Infections with bacteria of the order ACTINOMYCETALES." []	3181343	\N	\N	EFO	5	EFO	material property	primary Actinomycetales infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001122	"Infections with bacteria of the order ACTINOMYCETALES." []	4389740	\N	\N	EFO	6	EFO	experimental factor	primary Actinomycetales infectious disease
EFO:1001123	\N	\N	"Infections with bacteria of the family ANAPLASMATACEAE." []	EFO:1001123	"Infections with bacteria of the family ANAPLASMATACEAE." []	70710	\N	\N	EFO	0	EFO	primary Anaplasmataceae infectious disease	primary Anaplasmataceae infectious disease
EFO:0000771	EFO:1001123	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001123	"Infections with bacteria of the family ANAPLASMATACEAE." []	213219	\N	\N	EFO	1	EFO	bacterial disease	primary Anaplasmataceae infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001123	"Infections with bacteria of the family ANAPLASMATACEAE." []	567016	\N	\N	EFO	2	EFO	infectious disease	primary Anaplasmataceae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001123	"Infections with bacteria of the family ANAPLASMATACEAE." []	1148452	\N	\N	EFO	3	EFO	disease	primary Anaplasmataceae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001123	"Infections with bacteria of the family ANAPLASMATACEAE." []	2030707	\N	\N	EFO	4	EFO	disposition	primary Anaplasmataceae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001123	"Infections with bacteria of the family ANAPLASMATACEAE." []	3181344	\N	\N	EFO	5	EFO	material property	primary Anaplasmataceae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001123	"Infections with bacteria of the family ANAPLASMATACEAE." []	4389741	\N	\N	EFO	6	EFO	experimental factor	primary Anaplasmataceae infectious disease
EFO:1001124	\N	\N	"Infections with bacteria of the family BACILLACEAE." []	EFO:1001124	"Infections with bacteria of the family BACILLACEAE." []	70711	\N	\N	EFO	0	EFO	primary Bacillaceae infectious disease	primary Bacillaceae infectious disease
EFO:0000771	EFO:1001124	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001124	"Infections with bacteria of the family BACILLACEAE." []	213220	\N	\N	EFO	1	EFO	bacterial disease	primary Bacillaceae infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001124	"Infections with bacteria of the family BACILLACEAE." []	567017	\N	\N	EFO	2	EFO	infectious disease	primary Bacillaceae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001124	"Infections with bacteria of the family BACILLACEAE." []	1148453	\N	\N	EFO	3	EFO	disease	primary Bacillaceae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001124	"Infections with bacteria of the family BACILLACEAE." []	2030708	\N	\N	EFO	4	EFO	disposition	primary Bacillaceae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001124	"Infections with bacteria of the family BACILLACEAE." []	3181345	\N	\N	EFO	5	EFO	material property	primary Bacillaceae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001124	"Infections with bacteria of the family BACILLACEAE." []	4389742	\N	\N	EFO	6	EFO	experimental factor	primary Bacillaceae infectious disease
EFO:1001125	\N	\N	"Infections with bacteria of the family BARTONELLACEAE." []	EFO:1001125	"Infections with bacteria of the family BARTONELLACEAE." []	70712	\N	\N	EFO	0	EFO	primary Bartonellaceae infectious disease	primary Bartonellaceae infectious disease
EFO:0000771	EFO:1001125	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001125	"Infections with bacteria of the family BARTONELLACEAE." []	213221	\N	\N	EFO	1	EFO	bacterial disease	primary Bartonellaceae infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001125	"Infections with bacteria of the family BARTONELLACEAE." []	567018	\N	\N	EFO	2	EFO	infectious disease	primary Bartonellaceae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001125	"Infections with bacteria of the family BARTONELLACEAE." []	1148454	\N	\N	EFO	3	EFO	disease	primary Bartonellaceae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001125	"Infections with bacteria of the family BARTONELLACEAE." []	2030709	\N	\N	EFO	4	EFO	disposition	primary Bartonellaceae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001125	"Infections with bacteria of the family BARTONELLACEAE." []	3181346	\N	\N	EFO	5	EFO	material property	primary Bartonellaceae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001125	"Infections with bacteria of the family BARTONELLACEAE." []	4389743	\N	\N	EFO	6	EFO	experimental factor	primary Bartonellaceae infectious disease
EFO:1001126	\N	\N	"Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA." []	EFO:1001126	"Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA." []	70713	\N	\N	EFO	0	EFO	primary Fusobacteriaceae infectious disease	primary Fusobacteriaceae infectious disease
EFO:0000771	EFO:1001126	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001126	"Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA." []	213222	\N	\N	EFO	1	EFO	bacterial disease	primary Fusobacteriaceae infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001126	"Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA." []	567019	\N	\N	EFO	2	EFO	infectious disease	primary Fusobacteriaceae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001126	"Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA." []	1148455	\N	\N	EFO	3	EFO	disease	primary Fusobacteriaceae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001126	"Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA." []	2030710	\N	\N	EFO	4	EFO	disposition	primary Fusobacteriaceae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001126	"Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA." []	3181347	\N	\N	EFO	5	EFO	material property	primary Fusobacteriaceae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001126	"Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA." []	4389744	\N	\N	EFO	6	EFO	experimental factor	primary Fusobacteriaceae infectious disease
EFO:1001127	\N	\N	"Infections with bacteria of the genus HAEMOPHILUS." []	EFO:1001127	"Infections with bacteria of the genus HAEMOPHILUS." []	70714	\N	\N	EFO	0	EFO	primary Haemophilus infectious disease	primary Haemophilus infectious disease
EFO:0000771	EFO:1001127	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001127	"Infections with bacteria of the genus HAEMOPHILUS." []	213223	\N	\N	EFO	1	EFO	bacterial disease	primary Haemophilus infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001127	"Infections with bacteria of the genus HAEMOPHILUS." []	567020	\N	\N	EFO	2	EFO	infectious disease	primary Haemophilus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001127	"Infections with bacteria of the genus HAEMOPHILUS." []	1148456	\N	\N	EFO	3	EFO	disease	primary Haemophilus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001127	"Infections with bacteria of the genus HAEMOPHILUS." []	2030711	\N	\N	EFO	4	EFO	disposition	primary Haemophilus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001127	"Infections with bacteria of the genus HAEMOPHILUS." []	3181348	\N	\N	EFO	5	EFO	material property	primary Haemophilus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001127	"Infections with bacteria of the genus HAEMOPHILUS." []	4389745	\N	\N	EFO	6	EFO	experimental factor	primary Haemophilus infectious disease
EFO:1001128	\N	\N	"Infections with bacteria of the family RICKETTSIACEAE." []	EFO:1001128	"Infections with bacteria of the family RICKETTSIACEAE." []	70715	\N	\N	EFO	0	EFO	primary Rickettsiaceae infectious disease	primary Rickettsiaceae infectious disease
EFO:0000771	EFO:1001128	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001128	"Infections with bacteria of the family RICKETTSIACEAE." []	213224	\N	\N	EFO	1	EFO	bacterial disease	primary Rickettsiaceae infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001128	"Infections with bacteria of the family RICKETTSIACEAE." []	567021	\N	\N	EFO	2	EFO	infectious disease	primary Rickettsiaceae infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001128	"Infections with bacteria of the family RICKETTSIACEAE." []	1148457	\N	\N	EFO	3	EFO	disease	primary Rickettsiaceae infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001128	"Infections with bacteria of the family RICKETTSIACEAE." []	2030712	\N	\N	EFO	4	EFO	disposition	primary Rickettsiaceae infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001128	"Infections with bacteria of the family RICKETTSIACEAE." []	3181349	\N	\N	EFO	5	EFO	material property	primary Rickettsiaceae infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001128	"Infections with bacteria of the family RICKETTSIACEAE." []	4389746	\N	\N	EFO	6	EFO	experimental factor	primary Rickettsiaceae infectious disease
EFO:1001129	\N	\N	"Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." []	EFO:1001129	"Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." []	70716	\N	\N	EFO	0	EFO	proliferative vitreoretinopathy	proliferative vitreoretinopathy
Orphanet:98668	EFO:1001129	\N	"" []	EFO:1001129	"Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." []	213225	\N	\N	EFO	1	EFO	Vitreoretinopathy	proliferative vitreoretinopathy
Orphanet:98657	Orphanet:98668	\N	"" []	EFO:1001129	"Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." []	567022	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	proliferative vitreoretinopathy
Orphanet:101435	Orphanet:98657	\N	"" []	EFO:1001129	"Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." []	1148458	\N	\N	EFO	3	EFO	Rare genetic eye disease	proliferative vitreoretinopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001129	"Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." []	2030713	\N	\N	EFO	4	EFO	genetic disorder	proliferative vitreoretinopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001129	"Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." []	2030714	\N	\N	EFO	4	EFO	eye disease	proliferative vitreoretinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001129	"Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." []	3181350	\N	\N	EFO	5	EFO	disease	proliferative vitreoretinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001129	"Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." []	3181351	\N	\N	EFO	5	EFO	disease	proliferative vitreoretinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001129	"Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." []	4389747	\N	\N	EFO	6	EFO	disposition	proliferative vitreoretinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001129	"Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." []	5409441	\N	\N	EFO	7	EFO	material property	proliferative vitreoretinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001129	"Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." []	6147654	\N	\N	EFO	8	EFO	experimental factor	proliferative vitreoretinopathy
EFO:1001130	\N	\N	"Infections with bacteria of the genus PROTEUS." []	EFO:1001130	"Infections with bacteria of the genus PROTEUS." []	70717	\N	\N	EFO	0	EFO	Proteus infectious disease	Proteus infectious disease
EFO:0000771	EFO:1001130	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001130	"Infections with bacteria of the genus PROTEUS." []	213226	\N	\N	EFO	1	EFO	bacterial disease	Proteus infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001130	"Infections with bacteria of the genus PROTEUS." []	567023	\N	\N	EFO	2	EFO	infectious disease	Proteus infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001130	"Infections with bacteria of the genus PROTEUS." []	1148459	\N	\N	EFO	3	EFO	disease	Proteus infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001130	"Infections with bacteria of the genus PROTEUS." []	2030715	\N	\N	EFO	4	EFO	disposition	Proteus infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001130	"Infections with bacteria of the genus PROTEUS." []	3181352	\N	\N	EFO	5	EFO	material property	Proteus infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001130	"Infections with bacteria of the genus PROTEUS." []	4389748	\N	\N	EFO	6	EFO	experimental factor	Proteus infectious disease
EFO:1001131	\N	\N	"A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)" []	EFO:1001131	"A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)" []	70718	\N	\N	EFO	0	EFO	pseudobulbar palsy	pseudobulbar palsy
EFO:0005774	EFO:1001131	\N	"A disease affecting the brain or part of the brain." []	EFO:1001131	"A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)" []	213227	\N	\N	EFO	1	EFO	brain disease	pseudobulbar palsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001131	"A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)" []	567024	\N	\N	EFO	2	EFO	nervous system disease	pseudobulbar palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001131	"A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)" []	1148460	\N	\N	EFO	3	EFO	disease	pseudobulbar palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001131	"A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)" []	2030716	\N	\N	EFO	4	EFO	disposition	pseudobulbar palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001131	"A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)" []	3181353	\N	\N	EFO	5	EFO	material property	pseudobulbar palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001131	"A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)" []	4389749	\N	\N	EFO	6	EFO	experimental factor	pseudobulbar palsy
EFO:1001132	\N	\N	"A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." []	EFO:1001132	"A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." []	70719	\N	\N	EFO	0	EFO	pseudotumor cerebri	pseudotumor cerebri
EFO:1000992	EFO:1001132	\N	"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders." []	EFO:1001132	"A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." []	213228	\N	\N	EFO	1	EFO	intracranial hypertension	pseudotumor cerebri
EFO:0000537	EFO:1000992	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:1001132	"A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." []	567025	\N	\N	EFO	2	EFO	hypertension	pseudotumor cerebri
EFO:0005774	EFO:1000992	\N	"A disease affecting the brain or part of the brain." []	EFO:1001132	"A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." []	567026	\N	\N	EFO	2	EFO	brain disease	pseudotumor cerebri
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001132	"A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." []	1148461	\N	\N	EFO	3	EFO	cardiovascular disease	pseudotumor cerebri
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001132	"A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." []	1148462	\N	\N	EFO	3	EFO	nervous system disease	pseudotumor cerebri
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001132	"A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." []	2030717	\N	\N	EFO	4	EFO	disease	pseudotumor cerebri
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001132	"A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." []	2030718	\N	\N	EFO	4	EFO	disease	pseudotumor cerebri
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001132	"A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." []	3181354	\N	\N	EFO	5	EFO	disposition	pseudotumor cerebri
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001132	"A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." []	4389750	\N	\N	EFO	6	EFO	material property	pseudotumor cerebri
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001132	"A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." []	5409442	\N	\N	EFO	7	EFO	experimental factor	pseudotumor cerebri
EFO:1001133	\N	\N	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	70720	\N	\N	EFO	0	EFO	pulmonary coin lesion	pulmonary coin lesion
EFO:0002422	EFO:1001133	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	213229	\N	\N	EFO	1	EFO	benign neoplasm	pulmonary coin lesion
EFO:0003818	EFO:1001133	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	213230	\N	\N	EFO	1	EFO	lung disease	pulmonary coin lesion
EFO:0003853	EFO:1001133	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	213231	\N	\N	EFO	1	EFO	respiratory system neoplasm	pulmonary coin lesion
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	567027	\N	\N	EFO	2	EFO	neoplasm	pulmonary coin lesion
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	567028	\N	\N	EFO	2	EFO	respiratory system disease	pulmonary coin lesion
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	567029	\N	\N	EFO	2	EFO	neoplasm	pulmonary coin lesion
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	567030	\N	\N	EFO	2	EFO	respiratory system disease	pulmonary coin lesion
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	1148463	\N	\N	EFO	3	EFO	disease	pulmonary coin lesion
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	1148464	\N	\N	EFO	3	EFO	disease	pulmonary coin lesion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	2030719	\N	\N	EFO	4	EFO	disposition	pulmonary coin lesion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	3181355	\N	\N	EFO	5	EFO	material property	pulmonary coin lesion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001133	"A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." []	4389751	\N	\N	EFO	6	EFO	experimental factor	pulmonary coin lesion
EFO:1001134	\N	\N	"Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening." []	EFO:1001134	"Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening." []	70721	\N	\N	EFO	0	EFO	pulmonary edema	pulmonary edema
EFO:0000684	EFO:1001134	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001134	"Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening." []	213232	\N	\N	EFO	1	EFO	respiratory system disease	pulmonary edema
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001134	"Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening." []	567031	\N	\N	EFO	2	EFO	disease	pulmonary edema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001134	"Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening." []	1148465	\N	\N	EFO	3	EFO	disposition	pulmonary edema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001134	"Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening." []	2030720	\N	\N	EFO	4	EFO	material property	pulmonary edema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001134	"Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening." []	3181356	\N	\N	EFO	5	EFO	experimental factor	pulmonary edema
EFO:1001135	\N	\N	"A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." []	EFO:1001135	"A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." []	70722	\N	\N	EFO	0	EFO	pulmonary plasma cell granuloma	pulmonary plasma cell granuloma
EFO:0003818	EFO:1001135	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001135	"A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." []	213233	\N	\N	EFO	1	EFO	lung disease	pulmonary plasma cell granuloma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001135	"A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." []	567032	\N	\N	EFO	2	EFO	respiratory system disease	pulmonary plasma cell granuloma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001135	"A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." []	1148466	\N	\N	EFO	3	EFO	disease	pulmonary plasma cell granuloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001135	"A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." []	2030721	\N	\N	EFO	4	EFO	disposition	pulmonary plasma cell granuloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001135	"A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." []	3181357	\N	\N	EFO	5	EFO	material property	pulmonary plasma cell granuloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001135	"A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." []	4389752	\N	\N	EFO	6	EFO	experimental factor	pulmonary plasma cell granuloma
EFO:1001136	\N	\N	"A benign neoplasm of pneumocytes, cells of the PULMONARY ALVEOLI. Originally considered to be vascular in origin, it is now classified as an epithelial tumor with several elements, including solid cellular areas, papillary structure, sclerotic regions, and dilated blood-filled spaces resembling HEMANGIOMA." []	EFO:1001136	"A benign neoplasm of pneumocytes, cells of the PULMONARY ALVEOLI. Originally considered to be vascular in origin, it is now classified as an epithelial tumor with several elements, including solid cellular areas, papillary structure, sclerotic regions, and dilated blood-filled spaces resembling HEMANGIOMA." []	70723	\N	\N	EFO	0	EFO	pulmonary sclerosing hemangioma	pulmonary sclerosing hemangioma
EFO:1000635	EFO:1001136	\N	"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." []	EFO:1001136	"A benign neoplasm of pneumocytes, cells of the PULMONARY ALVEOLI. Originally considered to be vascular in origin, it is now classified as an epithelial tumor with several elements, including solid cellular areas, papillary structure, sclerotic regions, and dilated blood-filled spaces resembling HEMANGIOMA." []	213234	\N	\N	EFO	1	EFO	hemangioma	pulmonary sclerosing hemangioma
EFO:0000616	EFO:1000635	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001136	"A benign neoplasm of pneumocytes, cells of the PULMONARY ALVEOLI. Originally considered to be vascular in origin, it is now classified as an epithelial tumor with several elements, including solid cellular areas, papillary structure, sclerotic regions, and dilated blood-filled spaces resembling HEMANGIOMA." []	567033	\N	\N	EFO	2	EFO	neoplasm	pulmonary sclerosing hemangioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001136	"A benign neoplasm of pneumocytes, cells of the PULMONARY ALVEOLI. Originally considered to be vascular in origin, it is now classified as an epithelial tumor with several elements, including solid cellular areas, papillary structure, sclerotic regions, and dilated blood-filled spaces resembling HEMANGIOMA." []	1148467	\N	\N	EFO	3	EFO	disease	pulmonary sclerosing hemangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001136	"A benign neoplasm of pneumocytes, cells of the PULMONARY ALVEOLI. Originally considered to be vascular in origin, it is now classified as an epithelial tumor with several elements, including solid cellular areas, papillary structure, sclerotic regions, and dilated blood-filled spaces resembling HEMANGIOMA." []	2030722	\N	\N	EFO	4	EFO	disposition	pulmonary sclerosing hemangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001136	"A benign neoplasm of pneumocytes, cells of the PULMONARY ALVEOLI. Originally considered to be vascular in origin, it is now classified as an epithelial tumor with several elements, including solid cellular areas, papillary structure, sclerotic regions, and dilated blood-filled spaces resembling HEMANGIOMA." []	3181358	\N	\N	EFO	5	EFO	material property	pulmonary sclerosing hemangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001136	"A benign neoplasm of pneumocytes, cells of the PULMONARY ALVEOLI. Originally considered to be vascular in origin, it is now classified as an epithelial tumor with several elements, including solid cellular areas, papillary structure, sclerotic regions, and dilated blood-filled spaces resembling HEMANGIOMA." []	4389753	\N	\N	EFO	6	EFO	experimental factor	pulmonary sclerosing hemangioma
EFO:1001137	\N	\N	"Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort." []	EFO:1001137	"Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort." []	70724	\N	\N	EFO	0	EFO	pulmonary subvalvular stenosis	pulmonary subvalvular stenosis
EFO:0003777	EFO:1001137	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001137	"Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort." []	213235	\N	\N	EFO	1	EFO	heart disease	pulmonary subvalvular stenosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001137	"Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort." []	567034	\N	\N	EFO	2	EFO	cardiovascular disease	pulmonary subvalvular stenosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001137	"Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort." []	1148468	\N	\N	EFO	3	EFO	disease	pulmonary subvalvular stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001137	"Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort." []	2030723	\N	\N	EFO	4	EFO	disposition	pulmonary subvalvular stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001137	"Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort." []	3181359	\N	\N	EFO	5	EFO	material property	pulmonary subvalvular stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001137	"Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort." []	4389754	\N	\N	EFO	6	EFO	experimental factor	pulmonary subvalvular stenosis
EFO:1001138	\N	\N	"The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." []	EFO:1001138	"The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." []	70725	\N	\N	EFO	0	EFO	pulmonary valve stenosis	pulmonary valve stenosis
EFO:0003777	EFO:1001138	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001138	"The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." []	213236	\N	\N	EFO	1	EFO	heart disease	pulmonary valve stenosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001138	"The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." []	567035	\N	\N	EFO	2	EFO	cardiovascular disease	pulmonary valve stenosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001138	"The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." []	1148469	\N	\N	EFO	3	EFO	disease	pulmonary valve stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001138	"The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." []	2030724	\N	\N	EFO	4	EFO	disposition	pulmonary valve stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001138	"The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." []	3181360	\N	\N	EFO	5	EFO	material property	pulmonary valve stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001138	"The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." []	4389755	\N	\N	EFO	6	EFO	experimental factor	pulmonary valve stenosis
EFO:1001139	\N	\N	"Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis." []	EFO:1001139	"Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis." []	70726	\N	\N	EFO	0	EFO	pulpitis	pulpitis
EFO:0000771	EFO:1001139	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001139	"Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis." []	213237	\N	\N	EFO	1	EFO	bacterial disease	pulpitis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001139	"Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis." []	567036	\N	\N	EFO	2	EFO	infectious disease	pulpitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001139	"Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis." []	1148470	\N	\N	EFO	3	EFO	disease	pulpitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001139	"Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis." []	2030725	\N	\N	EFO	4	EFO	disposition	pulpitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001139	"Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis." []	3181361	\N	\N	EFO	5	EFO	material property	pulpitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001139	"Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis." []	4389756	\N	\N	EFO	6	EFO	experimental factor	pulpitis
EFO:1001140	\N	\N	"Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." []	EFO:1001140	"Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." []	70727	\N	\N	EFO	0	EFO	pyelitis	pyelitis
EFO:0003086	EFO:1001140	\N	"A disease affecting the kidneys" []	EFO:1001140	"Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." []	213238	\N	\N	EFO	1	EFO	kidney disease	pyelitis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001140	"Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." []	567037	\N	\N	EFO	2	EFO	disease	pyelitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001140	"Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." []	1148471	\N	\N	EFO	3	EFO	disposition	pyelitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001140	"Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." []	2030726	\N	\N	EFO	4	EFO	material property	pyelitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001140	"Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." []	3181362	\N	\N	EFO	5	EFO	experimental factor	pyelitis
EFO:1001141	\N	\N	"Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA." []	EFO:1001141	"Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA." []	70728	\N	\N	EFO	0	EFO	pyelonephritis	pyelonephritis
EFO:0003086	EFO:1001141	\N	"A disease affecting the kidneys" []	EFO:1001141	"Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA." []	213239	\N	\N	EFO	1	EFO	kidney disease	pyelonephritis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001141	"Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA." []	567038	\N	\N	EFO	2	EFO	disease	pyelonephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001141	"Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA." []	1148472	\N	\N	EFO	3	EFO	disposition	pyelonephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001141	"Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA." []	2030727	\N	\N	EFO	4	EFO	material property	pyelonephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001141	"Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA." []	3181363	\N	\N	EFO	5	EFO	experimental factor	pyelonephritis
EFO:1001142	\N	\N	"An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)" []	EFO:1001142	"An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)" []	70729	\N	\N	EFO	0	EFO	pyruvate carboxylase deficiency disease	pyruvate carboxylase deficiency disease
EFO:1000061	EFO:1001142	\N	"" []	EFO:1001142	"An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)" []	213240	\N	\N	EFO	1	EFO	carbohydrate metabolic disorder	pyruvate carboxylase deficiency disease
EFO:0000589	EFO:1000061	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001142	"An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)" []	567039	\N	\N	EFO	2	EFO	metabolic disease	pyruvate carboxylase deficiency disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001142	"An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)" []	1148473	\N	\N	EFO	3	EFO	disease	pyruvate carboxylase deficiency disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001142	"An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)" []	2030728	\N	\N	EFO	4	EFO	disposition	pyruvate carboxylase deficiency disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001142	"An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)" []	3181364	\N	\N	EFO	5	EFO	material property	pyruvate carboxylase deficiency disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001142	"An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)" []	4389757	\N	\N	EFO	6	EFO	experimental factor	pyruvate carboxylase deficiency disease
EFO:1001143	\N	\N	"Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS." []	EFO:1001143	"Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS." []	70730	\N	\N	EFO	0	EFO	radial nerve lesion	radial nerve lesion
EFO:0004149	EFO:1001143	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001143	"Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS." []	213241	\N	\N	EFO	1	EFO	neuropathy	radial nerve lesion
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001143	"Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS." []	567040	\N	\N	EFO	2	EFO	nervous system disease	radial nerve lesion
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001143	"Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS." []	1148474	\N	\N	EFO	3	EFO	disease	radial nerve lesion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001143	"Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS." []	2030729	\N	\N	EFO	4	EFO	disposition	radial nerve lesion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001143	"Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS." []	3181365	\N	\N	EFO	5	EFO	material property	radial nerve lesion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001143	"Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS." []	4389758	\N	\N	EFO	6	EFO	experimental factor	radial nerve lesion
EFO:1001144	\N	\N	"A syndrome characterized by recurring fever, rash, and arthralgias occurring days to weeks after a rat bite. The causative agents are either Streptobacillus moniliformis or Spirillum minus." []	EFO:1001144	"A syndrome characterized by recurring fever, rash, and arthralgias occurring days to weeks after a rat bite. The causative agents are either Streptobacillus moniliformis or Spirillum minus." []	70731	\N	\N	EFO	0	EFO	rat-bite fever	rat-bite fever
EFO:0000771	EFO:1001144	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001144	"A syndrome characterized by recurring fever, rash, and arthralgias occurring days to weeks after a rat bite. The causative agents are either Streptobacillus moniliformis or Spirillum minus." []	213242	\N	\N	EFO	1	EFO	bacterial disease	rat-bite fever
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001144	"A syndrome characterized by recurring fever, rash, and arthralgias occurring days to weeks after a rat bite. The causative agents are either Streptobacillus moniliformis or Spirillum minus." []	567041	\N	\N	EFO	2	EFO	infectious disease	rat-bite fever
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001144	"A syndrome characterized by recurring fever, rash, and arthralgias occurring days to weeks after a rat bite. The causative agents are either Streptobacillus moniliformis or Spirillum minus." []	1148475	\N	\N	EFO	3	EFO	disease	rat-bite fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001144	"A syndrome characterized by recurring fever, rash, and arthralgias occurring days to weeks after a rat bite. The causative agents are either Streptobacillus moniliformis or Spirillum minus." []	2030730	\N	\N	EFO	4	EFO	disposition	rat-bite fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001144	"A syndrome characterized by recurring fever, rash, and arthralgias occurring days to weeks after a rat bite. The causative agents are either Streptobacillus moniliformis or Spirillum minus." []	3181366	\N	\N	EFO	5	EFO	material property	rat-bite fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001144	"A syndrome characterized by recurring fever, rash, and arthralgias occurring days to weeks after a rat bite. The causative agents are either Streptobacillus moniliformis or Spirillum minus." []	4389759	\N	\N	EFO	6	EFO	experimental factor	rat-bite fever
EFO:1001145	\N	\N	"An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress." []	EFO:1001145	"An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress." []	70732	\N	\N	EFO	0	EFO	Raynaud disease	Raynaud disease
EFO:0003875	EFO:1001145	\N	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	EFO:1001145	"An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress." []	213243	\N	\N	EFO	1	EFO	peripheral vascular disease	Raynaud disease
EFO:0004264	EFO:0003875	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001145	"An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress." []	567042	\N	\N	EFO	2	EFO	vascular disease	Raynaud disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001145	"An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress." []	1148476	\N	\N	EFO	3	EFO	cardiovascular disease	Raynaud disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001145	"An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress." []	2030731	\N	\N	EFO	4	EFO	disease	Raynaud disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001145	"An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress." []	3181367	\N	\N	EFO	5	EFO	disposition	Raynaud disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001145	"An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress." []	4389760	\N	\N	EFO	6	EFO	material property	Raynaud disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001145	"An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress." []	5409443	\N	\N	EFO	7	EFO	experimental factor	Raynaud disease
EFO:1001146	\N	\N	"A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)" []	EFO:1001146	"A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)" []	70733	\N	\N	EFO	0	EFO	reflex epilepsy	reflex epilepsy
EFO:0000474	EFO:1001146	\N	"A disorder characterized by recurrent seizures" []	EFO:1001146	"A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)" []	213244	\N	\N	EFO	1	EFO	epilepsy	reflex epilepsy
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:1001146	"A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)" []	567043	\N	\N	EFO	2	EFO	brain disease	reflex epilepsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001146	"A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)" []	1148477	\N	\N	EFO	3	EFO	nervous system disease	reflex epilepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001146	"A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)" []	2030732	\N	\N	EFO	4	EFO	disease	reflex epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001146	"A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)" []	3181368	\N	\N	EFO	5	EFO	disposition	reflex epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001146	"A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)" []	4389761	\N	\N	EFO	6	EFO	material property	reflex epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001146	"A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)" []	5409444	\N	\N	EFO	7	EFO	experimental factor	reflex epilepsy
EFO:1001147	\N	\N	"A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)" []	EFO:1001147	"A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)" []	70734	\N	\N	EFO	0	EFO	reflex sympathetic dystrophy	reflex sympathetic dystrophy
EFO:1001998	EFO:1001147	\N	"Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." []	EFO:1001147	"A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)" []	213245	\N	\N	EFO	1	EFO	complex regional pain syndrome	reflex sympathetic dystrophy
EFO:0000618	EFO:1001998	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001147	"A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)" []	567044	\N	\N	EFO	2	EFO	nervous system disease	reflex sympathetic dystrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001147	"A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)" []	1148478	\N	\N	EFO	3	EFO	disease	reflex sympathetic dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001147	"A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)" []	2030733	\N	\N	EFO	4	EFO	disposition	reflex sympathetic dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001147	"A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)" []	3181369	\N	\N	EFO	5	EFO	material property	reflex sympathetic dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001147	"A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)" []	4389762	\N	\N	EFO	6	EFO	experimental factor	reflex sympathetic dystrophy
EFO:1001148	\N	\N	"An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction." []	EFO:1001148	"An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction." []	70735	\N	\N	EFO	0	EFO	relapsing polychondritis	relapsing polychondritis
EFO:0005802	EFO:1001148	\N	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	EFO:1001148	"An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction." []	213246	\N	\N	EFO	1	EFO	cartilage disease	relapsing polychondritis
EFO:0002461	EFO:0005802	\N	"Any disease which affects part of the skeletal system." []	EFO:1001148	"An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction." []	567045	\N	\N	EFO	2	EFO	skeletal system disease	relapsing polychondritis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001148	"An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction." []	1148479	\N	\N	EFO	3	EFO	disease	relapsing polychondritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001148	"An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction." []	2030734	\N	\N	EFO	4	EFO	disposition	relapsing polychondritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001148	"An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction." []	3181370	\N	\N	EFO	5	EFO	material property	relapsing polychondritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001148	"An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction." []	4389763	\N	\N	EFO	6	EFO	experimental factor	relapsing polychondritis
EFO:1001149	\N	\N	"A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved." []	EFO:1001149	"A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved." []	70736	\N	\N	EFO	0	EFO	renal aminoaciduria	renal aminoaciduria
EFO:0003086	EFO:1001149	\N	"A disease affecting the kidneys" []	EFO:1001149	"A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved." []	213247	\N	\N	EFO	1	EFO	kidney disease	renal aminoaciduria
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001149	"A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved." []	567046	\N	\N	EFO	2	EFO	disease	renal aminoaciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001149	"A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved." []	1148480	\N	\N	EFO	3	EFO	disposition	renal aminoaciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001149	"A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved." []	2030735	\N	\N	EFO	4	EFO	material property	renal aminoaciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001149	"A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved." []	3181371	\N	\N	EFO	5	EFO	experimental factor	renal aminoaciduria
EFO:1001150	\N	\N	"Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." []	EFO:1001150	"Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." []	70737	\N	\N	EFO	0	EFO	renal artery obstruction	renal artery obstruction
EFO:0003086	EFO:1001150	\N	"A disease affecting the kidneys" []	EFO:1001150	"Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." []	213248	\N	\N	EFO	1	EFO	kidney disease	renal artery obstruction
EFO:0004264	EFO:1001150	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001150	"Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." []	213249	\N	\N	EFO	1	EFO	vascular disease	renal artery obstruction
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001150	"Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." []	567047	\N	\N	EFO	2	EFO	disease	renal artery obstruction
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001150	"Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." []	567048	\N	\N	EFO	2	EFO	cardiovascular disease	renal artery obstruction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001150	"Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." []	2030737	\N	\N	EFO	4	EFO	disposition	renal artery obstruction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001150	"Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." []	1148482	\N	\N	EFO	3	EFO	disease	renal artery obstruction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001150	"Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." []	3000077	\N	\N	EFO	5	EFO	material property	renal artery obstruction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001150	"Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." []	4133098	\N	\N	EFO	6	EFO	experimental factor	renal artery obstruction
EFO:1001151	\N	\N	"An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene." []	EFO:1001151	"An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene." []	70738	\N	\N	EFO	0	EFO	renal glycosuria	renal glycosuria
EFO:0003086	EFO:1001151	\N	"A disease affecting the kidneys" []	EFO:1001151	"An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene." []	213250	\N	\N	EFO	1	EFO	kidney disease	renal glycosuria
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001151	"An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene." []	567049	\N	\N	EFO	2	EFO	disease	renal glycosuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001151	"An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene." []	1148483	\N	\N	EFO	3	EFO	disposition	renal glycosuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001151	"An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene." []	2030738	\N	\N	EFO	4	EFO	material property	renal glycosuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001151	"An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene." []	3181373	\N	\N	EFO	5	EFO	experimental factor	renal glycosuria
EFO:1001152	\N	\N	"Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders." []	EFO:1001152	"Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders." []	70739	\N	\N	EFO	0	EFO	renal osteodystrophy	renal osteodystrophy
EFO:0003086	EFO:1001152	\N	"A disease affecting the kidneys" []	EFO:1001152	"Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders." []	213251	\N	\N	EFO	1	EFO	kidney disease	renal osteodystrophy
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001152	"Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders." []	567050	\N	\N	EFO	2	EFO	disease	renal osteodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001152	"Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders." []	1148484	\N	\N	EFO	3	EFO	disposition	renal osteodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001152	"Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders." []	2030739	\N	\N	EFO	4	EFO	material property	renal osteodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001152	"Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders." []	3181374	\N	\N	EFO	5	EFO	experimental factor	renal osteodystrophy
EFO:1001153	\N	\N	"Hypertension due to RENAL ARTERY OBSTRUCTION or compression." []	EFO:1001153	"Hypertension due to RENAL ARTERY OBSTRUCTION or compression." []	70740	\N	\N	EFO	0	EFO	renovascular hypertension	renovascular hypertension
EFO:0000537	EFO:1001153	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:1001153	"Hypertension due to RENAL ARTERY OBSTRUCTION or compression." []	213252	\N	\N	EFO	1	EFO	hypertension	renovascular hypertension
EFO:0003086	EFO:1001153	\N	"A disease affecting the kidneys" []	EFO:1001153	"Hypertension due to RENAL ARTERY OBSTRUCTION or compression." []	213253	\N	\N	EFO	1	EFO	kidney disease	renovascular hypertension
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001153	"Hypertension due to RENAL ARTERY OBSTRUCTION or compression." []	567051	\N	\N	EFO	2	EFO	cardiovascular disease	renovascular hypertension
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001153	"Hypertension due to RENAL ARTERY OBSTRUCTION or compression." []	567052	\N	\N	EFO	2	EFO	disease	renovascular hypertension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001153	"Hypertension due to RENAL ARTERY OBSTRUCTION or compression." []	1148485	\N	\N	EFO	3	EFO	disease	renovascular hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001153	"Hypertension due to RENAL ARTERY OBSTRUCTION or compression." []	2030740	\N	\N	EFO	4	EFO	disposition	renovascular hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001153	"Hypertension due to RENAL ARTERY OBSTRUCTION or compression." []	3000078	\N	\N	EFO	5	EFO	material property	renovascular hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001153	"Hypertension due to RENAL ARTERY OBSTRUCTION or compression." []	4133099	\N	\N	EFO	6	EFO	experimental factor	renovascular hypertension
EFO:1001154	\N	\N	"Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." []	EFO:1001154	"Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." []	70741	\N	\N	EFO	0	EFO	retinal artery occlusion	retinal artery occlusion
EFO:0000524	EFO:1001154	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001154	"Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." []	213254	\N	\N	EFO	1	EFO	head disease	retinal artery occlusion
EFO:0003966	EFO:1001154	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001154	"Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." []	213255	\N	\N	EFO	1	EFO	eye disease	retinal artery occlusion
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001154	"Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." []	567053	\N	\N	EFO	2	EFO	disease	retinal artery occlusion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001154	"Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." []	567054	\N	\N	EFO	2	EFO	disease	retinal artery occlusion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001154	"Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." []	1148487	\N	\N	EFO	3	EFO	disposition	retinal artery occlusion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001154	"Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." []	2030742	\N	\N	EFO	4	EFO	material property	retinal artery occlusion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001154	"Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." []	3181376	\N	\N	EFO	5	EFO	experimental factor	retinal artery occlusion
EFO:1001155	\N	\N	"Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." []	EFO:1001155	"Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." []	70742	\N	\N	EFO	0	EFO	retinal drusen	retinal drusen
EFO:0000524	EFO:1001155	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001155	"Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." []	213256	\N	\N	EFO	1	EFO	head disease	retinal drusen
EFO:0001058	EFO:1001155	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1001155	"Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." []	213257	\N	\N	EFO	1	EFO	sensory system disease	retinal drusen
EFO:0003966	EFO:1001155	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001155	"Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." []	213258	\N	\N	EFO	1	EFO	eye disease	retinal drusen
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001155	"Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." []	567055	\N	\N	EFO	2	EFO	disease	retinal drusen
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001155	"Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." []	567056	\N	\N	EFO	2	EFO	nervous system disease	retinal drusen
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001155	"Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." []	567057	\N	\N	EFO	2	EFO	disease	retinal drusen
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001155	"Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." []	2030744	\N	\N	EFO	4	EFO	disposition	retinal drusen
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001155	"Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." []	1148489	\N	\N	EFO	3	EFO	disease	retinal drusen
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001155	"Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." []	3000079	\N	\N	EFO	5	EFO	material property	retinal drusen
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001155	"Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." []	4133100	\N	\N	EFO	6	EFO	experimental factor	retinal drusen
EFO:1001156	\N	\N	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	EFO:1001156	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	70743	\N	\N	EFO	0	EFO	retinal vasculitis	retinal vasculitis
EFO:0000524	EFO:1001156	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001156	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	213259	\N	\N	EFO	1	EFO	head disease	retinal vasculitis
EFO:0003966	EFO:1001156	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001156	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	213260	\N	\N	EFO	1	EFO	eye disease	retinal vasculitis
EFO:0006803	EFO:1001156	\N	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	EFO:1001156	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	213261	\N	\N	EFO	1	EFO	vasculitis	retinal vasculitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001156	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	567058	\N	\N	EFO	2	EFO	disease	retinal vasculitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001156	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	567059	\N	\N	EFO	2	EFO	disease	retinal vasculitis
EFO:0004264	EFO:0006803	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001156	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	567060	\N	\N	EFO	2	EFO	vascular disease	retinal vasculitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001156	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	3181379	\N	\N	EFO	5	EFO	disposition	retinal vasculitis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001156	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	1148491	\N	\N	EFO	3	EFO	cardiovascular disease	retinal vasculitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001156	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	4066816	\N	\N	EFO	6	EFO	material property	retinal vasculitis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001156	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	2030746	\N	\N	EFO	4	EFO	disease	retinal vasculitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001156	"Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS." []	5059508	\N	\N	EFO	7	EFO	experimental factor	retinal vasculitis
EFO:1001157	\N	\N	"Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES." []	EFO:1001157	"Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES." []	70744	\N	\N	EFO	0	EFO	retinal vein occlusion	retinal vein occlusion
EFO:0003966	EFO:1001157	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001157	"Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES." []	213262	\N	\N	EFO	1	EFO	eye disease	retinal vein occlusion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001157	"Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES." []	567061	\N	\N	EFO	2	EFO	disease	retinal vein occlusion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001157	"Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES." []	1148492	\N	\N	EFO	3	EFO	disposition	retinal vein occlusion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001157	"Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES." []	2030747	\N	\N	EFO	4	EFO	material property	retinal vein occlusion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001157	"Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES." []	3181380	\N	\N	EFO	5	EFO	experimental factor	retinal vein occlusion
EFO:1001158	\N	\N	"A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" []	EFO:1001158	"A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" []	70745	\N	\N	EFO	0	EFO	retinopathy of prematurity	retinopathy of prematurity
EFO:0003839	EFO:1001158	\N	"Any disease or disorder of the retina." []	EFO:1001158	"A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" []	213263	\N	\N	EFO	1	EFO	retinopathy	retinopathy of prematurity
EFO:0000524	EFO:0003839	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001158	"A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" []	567062	\N	\N	EFO	2	EFO	head disease	retinopathy of prematurity
EFO:0003966	EFO:0003839	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001158	"A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" []	567063	\N	\N	EFO	2	EFO	eye disease	retinopathy of prematurity
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001158	"A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" []	1148493	\N	\N	EFO	3	EFO	disease	retinopathy of prematurity
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001158	"A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" []	1148494	\N	\N	EFO	3	EFO	disease	retinopathy of prematurity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001158	"A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" []	2030748	\N	\N	EFO	4	EFO	disposition	retinopathy of prematurity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001158	"A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" []	3181381	\N	\N	EFO	5	EFO	material property	retinopathy of prematurity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001158	"A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" []	4389764	\N	\N	EFO	6	EFO	experimental factor	retinopathy of prematurity
EFO:1001159	\N	\N	"The process by which fetal Rh+ erythrocytes enter the circulation of an Rh- mother, causing her to produce IMMUNOGLOBULIN G antibodies, which can cross the placenta and destroy the erythrocytes of Rh+ fetuses. Rh isoimmunization can also be caused by BLOOD TRANSFUSION with mismatched blood." []	EFO:1001159	"The process by which fetal Rh+ erythrocytes enter the circulation of an Rh- mother, causing her to produce IMMUNOGLOBULIN G antibodies, which can cross the placenta and destroy the erythrocytes of Rh+ fetuses. Rh isoimmunization can also be caused by BLOOD TRANSFUSION with mismatched blood." []	70746	\N	\N	EFO	0	EFO	Rh isoimmunization	Rh isoimmunization
EFO:0005803	EFO:1001159	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001159	"The process by which fetal Rh+ erythrocytes enter the circulation of an Rh- mother, causing her to produce IMMUNOGLOBULIN G antibodies, which can cross the placenta and destroy the erythrocytes of Rh+ fetuses. Rh isoimmunization can also be caused by BLOOD TRANSFUSION with mismatched blood." []	213264	\N	\N	EFO	1	EFO	hematological system disease	Rh isoimmunization
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001159	"The process by which fetal Rh+ erythrocytes enter the circulation of an Rh- mother, causing her to produce IMMUNOGLOBULIN G antibodies, which can cross the placenta and destroy the erythrocytes of Rh+ fetuses. Rh isoimmunization can also be caused by BLOOD TRANSFUSION with mismatched blood." []	567064	\N	\N	EFO	2	EFO	disease	Rh isoimmunization
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001159	"The process by which fetal Rh+ erythrocytes enter the circulation of an Rh- mother, causing her to produce IMMUNOGLOBULIN G antibodies, which can cross the placenta and destroy the erythrocytes of Rh+ fetuses. Rh isoimmunization can also be caused by BLOOD TRANSFUSION with mismatched blood." []	1148495	\N	\N	EFO	3	EFO	disposition	Rh isoimmunization
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001159	"The process by which fetal Rh+ erythrocytes enter the circulation of an Rh- mother, causing her to produce IMMUNOGLOBULIN G antibodies, which can cross the placenta and destroy the erythrocytes of Rh+ fetuses. Rh isoimmunization can also be caused by BLOOD TRANSFUSION with mismatched blood." []	2030749	\N	\N	EFO	4	EFO	material property	Rh isoimmunization
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001159	"The process by which fetal Rh+ erythrocytes enter the circulation of an Rh- mother, causing her to produce IMMUNOGLOBULIN G antibodies, which can cross the placenta and destroy the erythrocytes of Rh+ fetuses. Rh isoimmunization can also be caused by BLOOD TRANSFUSION with mismatched blood." []	3181382	\N	\N	EFO	5	EFO	experimental factor	Rh isoimmunization
EFO:1001160	\N	\N	"A febrile disease occurring as a delayed sequela of infections with STREPTOCOCCUS PYOGENES. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, and joints (POLYARTHRITIS) and brain, and by the presence of ASCHOFF BODIES in the myocardium and skin." []	EFO:1001160	"A febrile disease occurring as a delayed sequela of infections with STREPTOCOCCUS PYOGENES. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, and joints (POLYARTHRITIS) and brain, and by the presence of ASCHOFF BODIES in the myocardium and skin." []	70747	\N	\N	EFO	0	EFO	rheumatic fever	rheumatic fever
EFO:0002461	EFO:1001160	\N	"Any disease which affects part of the skeletal system." []	EFO:1001160	"A febrile disease occurring as a delayed sequela of infections with STREPTOCOCCUS PYOGENES. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, and joints (POLYARTHRITIS) and brain, and by the presence of ASCHOFF BODIES in the myocardium and skin." []	213265	\N	\N	EFO	1	EFO	skeletal system disease	rheumatic fever
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001160	"A febrile disease occurring as a delayed sequela of infections with STREPTOCOCCUS PYOGENES. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, and joints (POLYARTHRITIS) and brain, and by the presence of ASCHOFF BODIES in the myocardium and skin." []	567065	\N	\N	EFO	2	EFO	disease	rheumatic fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001160	"A febrile disease occurring as a delayed sequela of infections with STREPTOCOCCUS PYOGENES. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, and joints (POLYARTHRITIS) and brain, and by the presence of ASCHOFF BODIES in the myocardium and skin." []	1148496	\N	\N	EFO	3	EFO	disposition	rheumatic fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001160	"A febrile disease occurring as a delayed sequela of infections with STREPTOCOCCUS PYOGENES. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, and joints (POLYARTHRITIS) and brain, and by the presence of ASCHOFF BODIES in the myocardium and skin." []	2030750	\N	\N	EFO	4	EFO	material property	rheumatic fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001160	"A febrile disease occurring as a delayed sequela of infections with STREPTOCOCCUS PYOGENES. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, and joints (POLYARTHRITIS) and brain, and by the presence of ASCHOFF BODIES in the myocardium and skin." []	3181383	\N	\N	EFO	5	EFO	experimental factor	rheumatic fever
EFO:1001161	\N	\N	"Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM." []	EFO:1001161	"Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM." []	70748	\N	\N	EFO	0	EFO	rheumatic heart disease	rheumatic heart disease
EFO:0003777	EFO:1001161	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001161	"Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM." []	213266	\N	\N	EFO	1	EFO	heart disease	rheumatic heart disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001161	"Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM." []	567066	\N	\N	EFO	2	EFO	cardiovascular disease	rheumatic heart disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001161	"Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM." []	1148497	\N	\N	EFO	3	EFO	disease	rheumatic heart disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001161	"Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM." []	2030751	\N	\N	EFO	4	EFO	disposition	rheumatic heart disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001161	"Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM." []	3181384	\N	\N	EFO	5	EFO	material property	rheumatic heart disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001161	"Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM." []	4389765	\N	\N	EFO	6	EFO	experimental factor	rheumatic heart disease
EFO:1001162	\N	\N	"Infections by the genus RICKETTSIA." []	EFO:1001162	"Infections by the genus RICKETTSIA." []	70749	\N	\N	EFO	0	EFO	rickettsiosis	rickettsiosis
EFO:0000771	EFO:1001162	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001162	"Infections by the genus RICKETTSIA." []	213267	\N	\N	EFO	1	EFO	bacterial disease	rickettsiosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001162	"Infections by the genus RICKETTSIA." []	567067	\N	\N	EFO	2	EFO	infectious disease	rickettsiosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001162	"Infections by the genus RICKETTSIA." []	1148498	\N	\N	EFO	3	EFO	disease	rickettsiosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001162	"Infections by the genus RICKETTSIA." []	2030752	\N	\N	EFO	4	EFO	disposition	rickettsiosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001162	"Infections by the genus RICKETTSIA." []	3181385	\N	\N	EFO	5	EFO	material property	rickettsiosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001162	"Infections by the genus RICKETTSIA." []	4389766	\N	\N	EFO	6	EFO	experimental factor	rickettsiosis
EFO:1001163	\N	\N	"Dental caries involving the tooth root, cementum, or cervical area of the tooth." []	EFO:1001163	"Dental caries involving the tooth root, cementum, or cervical area of the tooth." []	70750	\N	\N	EFO	0	EFO	root caries	root caries
EFO:0003819	EFO:1001163	\N	"Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification." []	EFO:1001163	"Dental caries involving the tooth root, cementum, or cervical area of the tooth." []	213268	\N	\N	EFO	1	EFO	dental caries	root caries
EFO:0000524	EFO:0003819	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001163	"Dental caries involving the tooth root, cementum, or cervical area of the tooth." []	567068	\N	\N	EFO	2	EFO	head disease	root caries
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001163	"Dental caries involving the tooth root, cementum, or cervical area of the tooth." []	1148499	\N	\N	EFO	3	EFO	disease	root caries
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001163	"Dental caries involving the tooth root, cementum, or cervical area of the tooth." []	2030753	\N	\N	EFO	4	EFO	disposition	root caries
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001163	"Dental caries involving the tooth root, cementum, or cervical area of the tooth." []	3181386	\N	\N	EFO	5	EFO	material property	root caries
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001163	"Dental caries involving the tooth root, cementum, or cervical area of the tooth." []	4389767	\N	\N	EFO	6	EFO	experimental factor	root caries
EFO:1001164	\N	\N	"Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome." []	EFO:1001164	"Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome." []	70751	\N	\N	EFO	0	EFO	SAPHO syndrome	SAPHO syndrome
EFO:0000408	EFO:1001164	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001164	"Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome." []	213269	\N	\N	EFO	1	EFO	disease	SAPHO syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001164	"Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome." []	567069	\N	\N	EFO	2	EFO	disposition	SAPHO syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001164	"Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome." []	1148500	\N	\N	EFO	3	EFO	material property	SAPHO syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001164	"Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome." []	2030754	\N	\N	EFO	4	EFO	experimental factor	SAPHO syndrome
EFO:1001165	\N	\N	"An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate." []	EFO:1001165	"An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate." []	70752	\N	\N	EFO	0	EFO	Schnitzler syndrome	Schnitzler syndrome
EFO:0000540	EFO:1001165	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001165	"An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate." []	213270	\N	\N	EFO	1	EFO	immune system disease	Schnitzler syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001165	"An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate." []	567070	\N	\N	EFO	2	EFO	disease	Schnitzler syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001165	"An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate." []	1148501	\N	\N	EFO	3	EFO	disposition	Schnitzler syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001165	"An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate." []	2030755	\N	\N	EFO	4	EFO	material property	Schnitzler syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001165	"An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate." []	3181387	\N	\N	EFO	5	EFO	experimental factor	Schnitzler syndrome
EFO:1001166	\N	\N	"Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" []	EFO:1001166	"Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" []	70753	\N	\N	EFO	0	EFO	sciatic neuropathy	sciatic neuropathy
EFO:0004149	EFO:1001166	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001166	"Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" []	213271	\N	\N	EFO	1	EFO	neuropathy	sciatic neuropathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001166	"Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" []	567071	\N	\N	EFO	2	EFO	nervous system disease	sciatic neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001166	"Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" []	1148502	\N	\N	EFO	3	EFO	disease	sciatic neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001166	"Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" []	2030756	\N	\N	EFO	4	EFO	disposition	sciatic neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001166	"Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" []	3181388	\N	\N	EFO	5	EFO	material property	sciatic neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001166	"Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" []	4389768	\N	\N	EFO	6	EFO	experimental factor	sciatic neuropathy
EFO:1001167	\N	\N	"An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart." []	EFO:1001167	"An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart." []	70754	\N	\N	EFO	0	EFO	scimitar syndrome	scimitar syndrome
EFO:0000508	EFO:1001167	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001167	"An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart." []	213272	\N	\N	EFO	1	EFO	genetic disorder	scimitar syndrome
EFO:0003777	EFO:1001167	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001167	"An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart." []	213273	\N	\N	EFO	1	EFO	heart disease	scimitar syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001167	"An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart." []	567072	\N	\N	EFO	2	EFO	disease	scimitar syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001167	"An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart." []	567073	\N	\N	EFO	2	EFO	cardiovascular disease	scimitar syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001167	"An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart." []	2030758	\N	\N	EFO	4	EFO	disposition	scimitar syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001167	"An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart." []	1148504	\N	\N	EFO	3	EFO	disease	scimitar syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001167	"An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart." []	3000080	\N	\N	EFO	5	EFO	material property	scimitar syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001167	"An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart." []	4133101	\N	\N	EFO	6	EFO	experimental factor	scimitar syndrome
EFO:1001168	\N	\N	"A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS." []	EFO:1001168	"A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS." []	70755	\N	\N	EFO	0	EFO	scrapie	scrapie
EFO:0004720	EFO:1001168	\N	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	EFO:1001168	"A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS." []	213274	\N	\N	EFO	1	EFO	prion disease	scrapie
EFO:0000618	EFO:0004720	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001168	"A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS." []	567074	\N	\N	EFO	2	EFO	nervous system disease	scrapie
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001168	"A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS." []	1148505	\N	\N	EFO	3	EFO	disease	scrapie
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001168	"A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS." []	2030759	\N	\N	EFO	4	EFO	disposition	scrapie
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001168	"A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS." []	3181390	\N	\N	EFO	5	EFO	material property	scrapie
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001168	"A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS." []	4389769	\N	\N	EFO	6	EFO	experimental factor	scrapie
EFO:1001169	\N	\N	"An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs." []	EFO:1001169	"An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs." []	70756	\N	\N	EFO	0	EFO	scurvy	scurvy
EFO:1001067	EFO:1001169	\N	"Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function" []	EFO:1001169	"An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs." []	213275	\N	\N	EFO	1	EFO	nutritional deficiency disease	scurvy
EFO:0001069	EFO:1001067	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1001169	"An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs." []	567075	\N	\N	EFO	2	EFO	nutritional disorder	scurvy
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001169	"An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs." []	1148506	\N	\N	EFO	3	EFO	metabolic disease	scurvy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001169	"An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs." []	2030760	\N	\N	EFO	4	EFO	disease	scurvy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001169	"An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs." []	3181391	\N	\N	EFO	5	EFO	disposition	scurvy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001169	"An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs." []	4389770	\N	\N	EFO	6	EFO	material property	scurvy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001169	"An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs." []	5409445	\N	\N	EFO	7	EFO	experimental factor	scurvy
EFO:1001170	\N	\N	"A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining." []	EFO:1001170	"A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining." []	70757	\N	\N	EFO	0	EFO	sea-blue histiocyte syndrome	sea-blue histiocyte syndrome
EFO:0005561	EFO:1001170	\N	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	EFO:1001170	"A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining." []	213276	\N	\N	EFO	1	EFO	histiocytoma	sea-blue histiocyte syndrome
EFO:0000691	EFO:0005561	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1001170	"A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining." []	567076	\N	\N	EFO	2	EFO	sarcoma	sea-blue histiocyte syndrome
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001170	"A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining." []	1148507	\N	\N	EFO	3	EFO	cancer	sea-blue histiocyte syndrome
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001170	"A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining." []	2030761	\N	\N	EFO	4	EFO	neoplasm	sea-blue histiocyte syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001170	"A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining." []	3181392	\N	\N	EFO	5	EFO	disease	sea-blue histiocyte syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001170	"A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining." []	4389771	\N	\N	EFO	6	EFO	disposition	sea-blue histiocyte syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001170	"A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining." []	5409446	\N	\N	EFO	7	EFO	material property	sea-blue histiocyte syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001170	"A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining." []	6147655	\N	\N	EFO	8	EFO	experimental factor	sea-blue histiocyte syndrome
EFO:1001171	\N	\N	"A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" []	EFO:1001171	"A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" []	70758	\N	\N	EFO	0	EFO	sebaceous adenocarcinoma	sebaceous adenocarcinoma
EFO:0000228	EFO:1001171	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1001171	"A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" []	213277	\N	\N	EFO	1	EFO	adenocarcinoma	sebaceous adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001171	"A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" []	567077	\N	\N	EFO	2	EFO	carcinoma	sebaceous adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001171	"A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" []	1148508	\N	\N	EFO	3	EFO	cancer	sebaceous adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001171	"A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" []	1148509	\N	\N	EFO	3	EFO	epithelial neoplasm	sebaceous adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001171	"A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" []	2030762	\N	\N	EFO	4	EFO	neoplasm	sebaceous adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001171	"A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" []	2030763	\N	\N	EFO	4	EFO	neoplasm	sebaceous adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001171	"A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" []	3181393	\N	\N	EFO	5	EFO	disease	sebaceous adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001171	"A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" []	4389772	\N	\N	EFO	6	EFO	disposition	sebaceous adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001171	"A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" []	5409447	\N	\N	EFO	7	EFO	material property	sebaceous adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001171	"A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" []	6147656	\N	\N	EFO	8	EFO	experimental factor	sebaceous adenocarcinoma
EFO:1001172	\N	\N	"neoplasm in the sebaceous gland" []	EFO:1001172	"neoplasm in the sebaceous gland" []	70759	\N	\N	EFO	0	EFO	sebaceous gland neoplasm	sebaceous gland neoplasm
EFO:0002422	EFO:1001172	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1001172	"neoplasm in the sebaceous gland" []	213278	\N	\N	EFO	1	EFO	benign neoplasm	sebaceous gland neoplasm
EFO:0004198	EFO:1001172	\N	"Tumors or cancer of the SKIN." []	EFO:1001172	"neoplasm in the sebaceous gland" []	213279	\N	\N	EFO	1	EFO	skin neoplasm	sebaceous gland neoplasm
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001172	"neoplasm in the sebaceous gland" []	567078	\N	\N	EFO	2	EFO	neoplasm	sebaceous gland neoplasm
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001172	"neoplasm in the sebaceous gland" []	567079	\N	\N	EFO	2	EFO	neoplasm	sebaceous gland neoplasm
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001172	"neoplasm in the sebaceous gland" []	567080	\N	\N	EFO	2	EFO	skin disease	sebaceous gland neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001172	"neoplasm in the sebaceous gland" []	1148510	\N	\N	EFO	3	EFO	disease	sebaceous gland neoplasm
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001172	"neoplasm in the sebaceous gland" []	1148511	\N	\N	EFO	3	EFO	disease	sebaceous gland neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001172	"neoplasm in the sebaceous gland" []	2030764	\N	\N	EFO	4	EFO	disposition	sebaceous gland neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001172	"neoplasm in the sebaceous gland" []	3181394	\N	\N	EFO	5	EFO	material property	sebaceous gland neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001172	"neoplasm in the sebaceous gland" []	4389773	\N	\N	EFO	6	EFO	experimental factor	sebaceous gland neoplasm
EFO:1001173	\N	\N	"Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." []	EFO:1001173	"Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." []	70760	\N	\N	EFO	0	EFO	secondary hyperparathyroidism	secondary hyperparathyroidism
EFO:0001379	EFO:1001173	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001173	"Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." []	213280	\N	\N	EFO	1	EFO	endocrine system disease	secondary hyperparathyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001173	"Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." []	567081	\N	\N	EFO	2	EFO	disease	secondary hyperparathyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001173	"Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." []	1148512	\N	\N	EFO	3	EFO	disposition	secondary hyperparathyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001173	"Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." []	2030765	\N	\N	EFO	4	EFO	material property	secondary hyperparathyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001173	"Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." []	3181395	\N	\N	EFO	5	EFO	experimental factor	secondary hyperparathyroidism
EFO:1001174	\N	\N	"Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" []	EFO:1001174	"Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" []	70761	\N	\N	EFO	0	EFO	secondary hypertrophic osteoarthropathy	secondary hypertrophic osteoarthropathy
EFO:0004260	EFO:1001174	\N	"Diseases of BONES." []	EFO:1001174	"Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" []	213281	\N	\N	EFO	1	EFO	bone disease	secondary hypertrophic osteoarthropathy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001174	"Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" []	567082	\N	\N	EFO	2	EFO	skeletal system disease	secondary hypertrophic osteoarthropathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001174	"Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" []	1148513	\N	\N	EFO	3	EFO	disease	secondary hypertrophic osteoarthropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001174	"Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" []	2030766	\N	\N	EFO	4	EFO	disposition	secondary hypertrophic osteoarthropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001174	"Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" []	3181396	\N	\N	EFO	5	EFO	material property	secondary hypertrophic osteoarthropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001174	"Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" []	4389774	\N	\N	EFO	6	EFO	experimental factor	secondary hypertrophic osteoarthropathy
EFO:1001175	\N	\N	"Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" []	EFO:1001175	"Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" []	70762	\N	\N	EFO	0	EFO	secondary Parkinson disease	secondary Parkinson disease
EFO:0002508	EFO:1001175	\N	"A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)" []	EFO:1001175	"Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" []	213282	\N	\N	EFO	1	EFO	Parkinson's disease	secondary Parkinson disease
EFO:0005772	EFO:0002508	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:1001175	"Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" []	567083	\N	\N	EFO	2	EFO	neurodegenerative disease	secondary Parkinson disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001175	"Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" []	1148514	\N	\N	EFO	3	EFO	nervous system disease	secondary Parkinson disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001175	"Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" []	2030767	\N	\N	EFO	4	EFO	disease	secondary Parkinson disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001175	"Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" []	3181397	\N	\N	EFO	5	EFO	disposition	secondary Parkinson disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001175	"Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" []	4389775	\N	\N	EFO	6	EFO	material property	secondary Parkinson disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001175	"Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" []	5409448	\N	\N	EFO	7	EFO	experimental factor	secondary Parkinson disease
EFO:1001176	\N	\N	"Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss." []	EFO:1001176	"Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss." []	70763	\N	\N	EFO	0	EFO	sensorineural hearing loss	sensorineural hearing loss
EFO:0001058	EFO:1001176	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1001176	"Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss." []	213283	\N	\N	EFO	1	EFO	sensory system disease	sensorineural hearing loss
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001176	"Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss." []	567084	\N	\N	EFO	2	EFO	nervous system disease	sensorineural hearing loss
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001176	"Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss." []	1148515	\N	\N	EFO	3	EFO	disease	sensorineural hearing loss
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001176	"Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss." []	2030768	\N	\N	EFO	4	EFO	disposition	sensorineural hearing loss
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001176	"Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss." []	3181398	\N	\N	EFO	5	EFO	material property	sensorineural hearing loss
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001176	"Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss." []	4389776	\N	\N	EFO	6	EFO	experimental factor	sensorineural hearing loss
EFO:1001177	\N	\N	"Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge." []	EFO:1001177	"Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge." []	70764	\N	\N	EFO	0	EFO	septic abortion	septic abortion
EFO:1001491	EFO:1001177	\N	"the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus." []	EFO:1001177	"Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge." []	213284	\N	\N	EFO	1	EFO	abortion	septic abortion
EFO:0000512	EFO:1001491	\N	"any diease of the reproductive system" []	EFO:1001177	"Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge." []	567085	\N	\N	EFO	2	EFO	reproductive system disease	septic abortion
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001177	"Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge." []	1148516	\N	\N	EFO	3	EFO	disease	septic abortion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001177	"Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge." []	2030769	\N	\N	EFO	4	EFO	disposition	septic abortion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001177	"Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge." []	3181399	\N	\N	EFO	5	EFO	material property	septic abortion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001177	"Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge." []	4389777	\N	\N	EFO	6	EFO	experimental factor	septic abortion
EFO:1001178	\N	\N	"Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" []	EFO:1001178	"Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" []	70765	\N	\N	EFO	0	EFO	shoulder impingement syndrome	shoulder impingement syndrome
EFO:1000999	EFO:1001178	\N	"Any disorder of the joints" []	EFO:1001178	"Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" []	213285	\N	\N	EFO	1	EFO	joint disease	shoulder impingement syndrome
EFO:0002461	EFO:1000999	\N	"Any disease which affects part of the skeletal system." []	EFO:1001178	"Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" []	567086	\N	\N	EFO	2	EFO	skeletal system disease	shoulder impingement syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001178	"Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" []	1148517	\N	\N	EFO	3	EFO	disease	shoulder impingement syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001178	"Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" []	2030770	\N	\N	EFO	4	EFO	disposition	shoulder impingement syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001178	"Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" []	3181400	\N	\N	EFO	5	EFO	material property	shoulder impingement syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001178	"Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" []	4389778	\N	\N	EFO	6	EFO	experimental factor	shoulder impingement syndrome
EFO:1001179	\N	\N	"INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries." []	EFO:1001179	"INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries." []	70766	\N	\N	EFO	0	EFO	sialadenitis	sialadenitis
EFO:0000405	EFO:1001179	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001179	"INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries." []	213286	\N	\N	EFO	1	EFO	digestive system disease	sialadenitis
EFO:0000524	EFO:1001179	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001179	"INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries." []	213287	\N	\N	EFO	1	EFO	head disease	sialadenitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001179	"INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries." []	567087	\N	\N	EFO	2	EFO	disease	sialadenitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001179	"INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries." []	567088	\N	\N	EFO	2	EFO	disease	sialadenitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001179	"INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries." []	1148518	\N	\N	EFO	3	EFO	disposition	sialadenitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001179	"INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries." []	2030771	\N	\N	EFO	4	EFO	material property	sialadenitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001179	"INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries." []	3181401	\N	\N	EFO	5	EFO	experimental factor	sialadenitis
EFO:1001180	\N	\N	"Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." []	EFO:1001180	"Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." []	70767	\N	\N	EFO	0	EFO	sialolithiasis	sialolithiasis
EFO:1001047	EFO:1001180	\N	"Any disease of the oral cavity" []	EFO:1001180	"Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." []	213288	\N	\N	EFO	1	EFO	mouth disease	sialolithiasis
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001180	"Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." []	567089	\N	\N	EFO	2	EFO	digestive system disease	sialolithiasis
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001180	"Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." []	567090	\N	\N	EFO	2	EFO	head disease	sialolithiasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001180	"Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." []	1148519	\N	\N	EFO	3	EFO	disease	sialolithiasis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001180	"Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." []	1148520	\N	\N	EFO	3	EFO	disease	sialolithiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001180	"Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." []	2030772	\N	\N	EFO	4	EFO	disposition	sialolithiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001180	"Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." []	3181402	\N	\N	EFO	5	EFO	material property	sialolithiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001180	"Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." []	4389779	\N	\N	EFO	6	EFO	experimental factor	sialolithiasis
EFO:1001181	\N	\N	"Tumors or cancer of the SIGMOID COLON." []	EFO:1001181	"Tumors or cancer of the SIGMOID COLON." []	70768	\N	\N	EFO	0	EFO	sigmoid neoplasm	sigmoid neoplasm
EFO:0004288	EFO:1001181	\N	"Tumors or cancer of the COLON." []	EFO:1001181	"Tumors or cancer of the SIGMOID COLON." []	213289	\N	\N	EFO	1	EFO	colonic neoplasm	sigmoid neoplasm
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001181	"Tumors or cancer of the SIGMOID COLON." []	567091	\N	\N	EFO	2	EFO	digestive system disease	sigmoid neoplasm
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001181	"Tumors or cancer of the SIGMOID COLON." []	567092	\N	\N	EFO	2	EFO	neoplasm	sigmoid neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001181	"Tumors or cancer of the SIGMOID COLON." []	1148521	\N	\N	EFO	3	EFO	disease	sigmoid neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001181	"Tumors or cancer of the SIGMOID COLON." []	1148522	\N	\N	EFO	3	EFO	disease	sigmoid neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001181	"Tumors or cancer of the SIGMOID COLON." []	2030773	\N	\N	EFO	4	EFO	disposition	sigmoid neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001181	"Tumors or cancer of the SIGMOID COLON." []	3181403	\N	\N	EFO	5	EFO	material property	sigmoid neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001181	"Tumors or cancer of the SIGMOID COLON." []	4389780	\N	\N	EFO	6	EFO	experimental factor	sigmoid neoplasm
EFO:1001182	\N	\N	"A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." []	EFO:1001182	"A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." []	70769	\N	\N	EFO	0	EFO	silo filler's disease	silo filler's disease
EFO:0003818	EFO:1001182	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001182	"A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." []	213290	\N	\N	EFO	1	EFO	lung disease	silo filler's disease
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001182	"A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." []	567093	\N	\N	EFO	2	EFO	respiratory system disease	silo filler's disease
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001182	"A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." []	1148523	\N	\N	EFO	3	EFO	disease	silo filler's disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001182	"A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." []	2030774	\N	\N	EFO	4	EFO	disposition	silo filler's disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001182	"A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." []	3181404	\N	\N	EFO	5	EFO	material property	silo filler's disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001182	"A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." []	4389781	\N	\N	EFO	6	EFO	experimental factor	silo filler's disease
EFO:1001183	\N	\N	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	70770	\N	\N	EFO	0	EFO	skin appendage carcinoma	skin appendage carcinoma
EFO:0000313	EFO:1001183	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	213291	\N	\N	EFO	1	EFO	carcinoma	skin appendage carcinoma
EFO:0004198	EFO:1001183	\N	"Tumors or cancer of the SKIN." []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	213292	\N	\N	EFO	1	EFO	skin neoplasm	skin appendage carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	567094	\N	\N	EFO	2	EFO	cancer	skin appendage carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	567095	\N	\N	EFO	2	EFO	epithelial neoplasm	skin appendage carcinoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	567096	\N	\N	EFO	2	EFO	neoplasm	skin appendage carcinoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	567097	\N	\N	EFO	2	EFO	skin disease	skin appendage carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	1148524	\N	\N	EFO	3	EFO	neoplasm	skin appendage carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	1148525	\N	\N	EFO	3	EFO	neoplasm	skin appendage carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	2030775	\N	\N	EFO	4	EFO	disease	skin appendage carcinoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	1148527	\N	\N	EFO	3	EFO	disease	skin appendage carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	3000081	\N	\N	EFO	5	EFO	disposition	skin appendage carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	4133102	\N	\N	EFO	6	EFO	material property	skin appendage carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001183	"A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" []	5181336	\N	\N	EFO	7	EFO	experimental factor	skin appendage carcinoma
EFO:1001184	\N	\N	"A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992)" []	EFO:1001184	"A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992)" []	70771	\N	\N	EFO	0	EFO	small cell sarcoma	small cell sarcoma
EFO:0000691	EFO:1001184	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1001184	"A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992)" []	213293	\N	\N	EFO	1	EFO	sarcoma	small cell sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001184	"A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992)" []	567098	\N	\N	EFO	2	EFO	cancer	small cell sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001184	"A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992)" []	1148528	\N	\N	EFO	3	EFO	neoplasm	small cell sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001184	"A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992)" []	2030777	\N	\N	EFO	4	EFO	disease	small cell sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001184	"A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992)" []	3181406	\N	\N	EFO	5	EFO	disposition	small cell sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001184	"A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992)" []	4389783	\N	\N	EFO	6	EFO	material property	small cell sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001184	"A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992)" []	5409449	\N	\N	EFO	7	EFO	experimental factor	small cell sarcoma
EFO:1001185	\N	\N	"A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." []	EFO:1001185	"A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." []	70772	\N	\N	EFO	0	EFO	smooth muscle tumor	smooth muscle tumor
EFO:1000121	EFO:1001185	\N	"A benign mesenchymal neoplasm arising from smooth muscle tissue." []	EFO:1001185	"A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." []	213294	\N	\N	EFO	1	EFO	Benign Smooth Muscle Neoplasm	smooth muscle tumor
EFO:0000616	EFO:1000121	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001185	"A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." []	567099	\N	\N	EFO	2	EFO	neoplasm	smooth muscle tumor
EFO:0002970	EFO:1000121	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1001185	"A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." []	567100	\N	\N	EFO	2	EFO	muscular disease	smooth muscle tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001185	"A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." []	1148529	\N	\N	EFO	3	EFO	disease	smooth muscle tumor
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1001185	"A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." []	1148530	\N	\N	EFO	3	EFO	skeletal system disease	smooth muscle tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001185	"A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." []	3181408	\N	\N	EFO	5	EFO	disposition	smooth muscle tumor
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001185	"A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." []	2030779	\N	\N	EFO	4	EFO	disease	smooth muscle tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001185	"A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." []	4133103	\N	\N	EFO	6	EFO	material property	smooth muscle tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001185	"A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." []	5181337	\N	\N	EFO	7	EFO	experimental factor	smooth muscle tumor
EFO:1001186	\N	\N	"A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)" []	EFO:1001186	"A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)" []	70773	\N	\N	EFO	0	EFO	Sneddon syndrome	Sneddon syndrome
EFO:0004264	EFO:1001186	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001186	"A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)" []	213295	\N	\N	EFO	1	EFO	vascular disease	Sneddon syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001186	"A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)" []	567101	\N	\N	EFO	2	EFO	cardiovascular disease	Sneddon syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001186	"A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)" []	1148531	\N	\N	EFO	3	EFO	disease	Sneddon syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001186	"A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)" []	2030780	\N	\N	EFO	4	EFO	disposition	Sneddon syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001186	"A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)" []	3181409	\N	\N	EFO	5	EFO	material property	Sneddon syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001186	"A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)" []	4389785	\N	\N	EFO	6	EFO	experimental factor	Sneddon syndrome
EFO:1001187	\N	\N	"A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS." []	EFO:1001187	"A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS." []	70774	\N	\N	EFO	0	EFO	somatostatinoma	somatostatinoma
EFO:0004243	EFO:1001187	\N	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	EFO:1001187	"A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS." []	213296	\N	\N	EFO	1	EFO	carcinoid tumor	somatostatinoma
EFO:0000616	EFO:0004243	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001187	"A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS." []	567102	\N	\N	EFO	2	EFO	neoplasm	somatostatinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001187	"A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS." []	1148532	\N	\N	EFO	3	EFO	disease	somatostatinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001187	"A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS." []	2030781	\N	\N	EFO	4	EFO	disposition	somatostatinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001187	"A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS." []	3181410	\N	\N	EFO	5	EFO	material property	somatostatinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001187	"A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS." []	4389786	\N	\N	EFO	6	EFO	experimental factor	somatostatinoma
EFO:1001188	\N	\N	"Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" []	EFO:1001188	"Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" []	70775	\N	\N	EFO	0	EFO	space motion sickness	space motion sickness
EFO:0006928	EFO:1001188	\N	"sympton caused by motion, as sea sickness, train sickness, car sickness, air sickness, or space motion sickness. It may include nausea, vomiting and dizziness." []	EFO:1001188	"Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" []	213297	\N	\N	EFO	1	EFO	motion sickness	space motion sickness
EFO:0003765	EFO:0006928	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:1001188	"Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" []	567103	\N	\N	EFO	2	EFO	sign or symptom	space motion sickness
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:1001188	"Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" []	1148533	\N	\N	EFO	3	EFO	phenotype	space motion sickness
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:1001188	"Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" []	2030782	\N	\N	EFO	4	EFO	quality	space motion sickness
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001188	"Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" []	3181411	\N	\N	EFO	5	EFO	material property	space motion sickness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001188	"Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" []	4389787	\N	\N	EFO	6	EFO	experimental factor	space motion sickness
EFO:1001189	\N	\N	"A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions." []	EFO:1001189	"A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions." []	70776	\N	\N	EFO	0	EFO	spermatocele	spermatocele
EFO:0000512	EFO:1001189	\N	"any diease of the reproductive system" []	EFO:1001189	"A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions." []	213298	\N	\N	EFO	1	EFO	reproductive system disease	spermatocele
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001189	"A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions." []	567104	\N	\N	EFO	2	EFO	disease	spermatocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001189	"A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions." []	1148534	\N	\N	EFO	3	EFO	disposition	spermatocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001189	"A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions." []	2030783	\N	\N	EFO	4	EFO	material property	spermatocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001189	"A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions." []	3181412	\N	\N	EFO	5	EFO	experimental factor	spermatocele
EFO:1001190	\N	\N	"Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" []	EFO:1001190	"Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" []	70777	\N	\N	EFO	0	EFO	splenic infarction	splenic infarction
EFO:0000405	EFO:1001190	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001190	"Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" []	213299	\N	\N	EFO	1	EFO	digestive system disease	splenic infarction
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001190	"Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" []	567105	\N	\N	EFO	2	EFO	disease	splenic infarction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001190	"Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" []	1148535	\N	\N	EFO	3	EFO	disposition	splenic infarction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001190	"Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" []	2030784	\N	\N	EFO	4	EFO	material property	splenic infarction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001190	"Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" []	3181413	\N	\N	EFO	5	EFO	experimental factor	splenic infarction
EFO:1001191	\N	\N	"A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of \\"ceroid\\" pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" []	EFO:1001191	"A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of \\"ceroid\\" pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" []	70778	\N	\N	EFO	0	EFO	steatitis	steatitis
EFO:0005932	EFO:1001191	\N	"A disease that occurs in animals." []	EFO:1001191	"A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of \\"ceroid\\" pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" []	213300	\N	\N	EFO	1	EFO	animal disease	steatitis
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001191	"A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of \\"ceroid\\" pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" []	567106	\N	\N	EFO	2	EFO	disease	steatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001191	"A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of \\"ceroid\\" pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" []	1148536	\N	\N	EFO	3	EFO	disposition	steatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001191	"A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of \\"ceroid\\" pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" []	2030785	\N	\N	EFO	4	EFO	material property	steatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001191	"A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of \\"ceroid\\" pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" []	3181414	\N	\N	EFO	5	EFO	experimental factor	steatitis
EFO:1001192	\N	\N	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	70779	\N	\N	EFO	0	EFO	struma ovarii	struma ovarii
EFO:1000419	EFO:1001192	\N	"A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	213301	\N	\N	EFO	1	EFO	Ovarian Germ Cell Tumor	struma ovarii
EFO:0000514	EFO:1000419	\N	"Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	567107	\N	\N	EFO	2	EFO	germ cell tumor	struma ovarii
EFO:0003893	EFO:1000419	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	567108	\N	\N	EFO	2	EFO	ovarian neoplasm	struma ovarii
EFO:0000616	EFO:0000514	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	1148537	\N	\N	EFO	3	EFO	neoplasm	struma ovarii
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	1148538	\N	\N	EFO	3	EFO	urogenital neoplasm	struma ovarii
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	1148539	\N	\N	EFO	3	EFO	ovarian disease	struma ovarii
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	3181416	\N	\N	EFO	5	EFO	disease	struma ovarii
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	2030787	\N	\N	EFO	4	EFO	neoplasm	struma ovarii
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	2030788	\N	\N	EFO	4	EFO	reproductive system disease	struma ovarii
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	4133104	\N	\N	EFO	6	EFO	disposition	struma ovarii
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	3181417	\N	\N	EFO	5	EFO	disease	struma ovarii
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	5181338	\N	\N	EFO	7	EFO	material property	struma ovarii
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001192	"A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992)" []	5996760	\N	\N	EFO	8	EFO	experimental factor	struma ovarii
EFO:1001193	\N	\N	"ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." []	EFO:1001193	"ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." []	70780	\N	\N	EFO	0	EFO	subacute bacterial endocarditis	subacute bacterial endocarditis
EFO:0000465	EFO:1001193	\N	"Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening." []	EFO:1001193	"ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." []	213302	\N	\N	EFO	1	EFO	endocarditis	subacute bacterial endocarditis
EFO:0003777	EFO:0000465	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001193	"ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." []	567109	\N	\N	EFO	2	EFO	heart disease	subacute bacterial endocarditis
EFO:0004264	EFO:0000465	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001193	"ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." []	567110	\N	\N	EFO	2	EFO	vascular disease	subacute bacterial endocarditis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001193	"ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." []	1148540	\N	\N	EFO	3	EFO	cardiovascular disease	subacute bacterial endocarditis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001193	"ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." []	1148541	\N	\N	EFO	3	EFO	cardiovascular disease	subacute bacterial endocarditis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001193	"ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." []	2030789	\N	\N	EFO	4	EFO	disease	subacute bacterial endocarditis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001193	"ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." []	3181418	\N	\N	EFO	5	EFO	disposition	subacute bacterial endocarditis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001193	"ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." []	4389789	\N	\N	EFO	6	EFO	material property	subacute bacterial endocarditis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001193	"ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." []	5409451	\N	\N	EFO	7	EFO	experimental factor	subacute bacterial endocarditis
EFO:1001194	\N	\N	"Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection." []	EFO:1001194	"Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection." []	70781	\N	\N	EFO	0	EFO	subacute thyroiditis	subacute thyroiditis
EFO:1000627	EFO:1001194	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1001194	"Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection." []	213303	\N	\N	EFO	1	EFO	thyroid disease	subacute thyroiditis
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001194	"Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection." []	567111	\N	\N	EFO	2	EFO	endocrine system disease	subacute thyroiditis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001194	"Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection." []	1148542	\N	\N	EFO	3	EFO	disease	subacute thyroiditis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001194	"Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection." []	2030790	\N	\N	EFO	4	EFO	disposition	subacute thyroiditis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001194	"Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection." []	3181419	\N	\N	EFO	5	EFO	material property	subacute thyroiditis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001194	"Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection." []	4389790	\N	\N	EFO	6	EFO	experimental factor	subacute thyroiditis
EFO:1001195	\N	\N	"A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" []	EFO:1001195	"A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" []	70782	\N	\N	EFO	0	EFO	subclavian steal syndrome	subclavian steal syndrome
EFO:0003763	EFO:1001195	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1001195	"A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" []	213304	\N	\N	EFO	1	EFO	cerebrovascular disorder	subclavian steal syndrome
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001195	"A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" []	567112	\N	\N	EFO	2	EFO	vascular disease	subclavian steal syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001195	"A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" []	1148543	\N	\N	EFO	3	EFO	cardiovascular disease	subclavian steal syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001195	"A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" []	2030791	\N	\N	EFO	4	EFO	disease	subclavian steal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001195	"A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" []	3181420	\N	\N	EFO	5	EFO	disposition	subclavian steal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001195	"A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" []	4389791	\N	\N	EFO	6	EFO	material property	subclavian steal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001195	"A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" []	5409452	\N	\N	EFO	7	EFO	experimental factor	subclavian steal syndrome
EFO:1001196	\N	\N	"An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID." []	EFO:1001196	"An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID." []	70783	\N	\N	EFO	0	EFO	subdural empyema	subdural empyema
EFO:0000618	EFO:1001196	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001196	"An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID." []	213305	\N	\N	EFO	1	EFO	nervous system disease	subdural empyema
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001196	"An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID." []	567113	\N	\N	EFO	2	EFO	disease	subdural empyema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001196	"An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID." []	1148544	\N	\N	EFO	3	EFO	disposition	subdural empyema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001196	"An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID." []	2030792	\N	\N	EFO	4	EFO	material property	subdural empyema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001196	"An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID." []	3181421	\N	\N	EFO	5	EFO	experimental factor	subdural empyema
EFO:1001197	\N	\N	"Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)" []	EFO:1001197	"Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)" []	70784	\N	\N	EFO	0	EFO	subependymal glioma	subependymal glioma
EFO:0002422	EFO:1001197	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1001197	"Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)" []	213306	\N	\N	EFO	1	EFO	benign neoplasm	subependymal glioma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001197	"Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)" []	567114	\N	\N	EFO	2	EFO	neoplasm	subependymal glioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001197	"Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)" []	1148545	\N	\N	EFO	3	EFO	disease	subependymal glioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001197	"Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)" []	2030793	\N	\N	EFO	4	EFO	disposition	subependymal glioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001197	"Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)" []	3181422	\N	\N	EFO	5	EFO	material property	subependymal glioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001197	"Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)" []	4389792	\N	\N	EFO	6	EFO	experimental factor	subependymal glioma
EFO:1001198	\N	\N	"An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." []	EFO:1001198	"An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." []	70785	\N	\N	EFO	0	EFO	substernal goiter	substernal goiter
EFO:0004283	EFO:1001198	\N	"Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC)." []	EFO:1001198	"An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." []	213307	\N	\N	EFO	1	EFO	goiter	substernal goiter
EFO:0001379	EFO:0004283	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001198	"An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." []	567115	\N	\N	EFO	2	EFO	endocrine system disease	substernal goiter
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001198	"An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." []	1148546	\N	\N	EFO	3	EFO	disease	substernal goiter
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001198	"An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." []	2030794	\N	\N	EFO	4	EFO	disposition	substernal goiter
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001198	"An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." []	3181423	\N	\N	EFO	5	EFO	material property	substernal goiter
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001198	"An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." []	4389793	\N	\N	EFO	6	EFO	experimental factor	substernal goiter
EFO:1001199	\N	\N	"A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	EFO:1001199	"A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	70786	\N	\N	EFO	0	EFO	subvalvular aortic stenosis	subvalvular aortic stenosis
EFO:0000266	EFO:1001199	\N	"Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." []	EFO:1001199	"A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	213308	\N	\N	EFO	1	EFO	aortic stenosis	subvalvular aortic stenosis
EFO:0005775	EFO:0000266	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:1001199	"A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	567116	\N	\N	EFO	2	EFO	aortic disease	subvalvular aortic stenosis
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001199	"A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	1148547	\N	\N	EFO	3	EFO	vascular disease	subvalvular aortic stenosis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001199	"A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	2030795	\N	\N	EFO	4	EFO	cardiovascular disease	subvalvular aortic stenosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001199	"A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	3181424	\N	\N	EFO	5	EFO	disease	subvalvular aortic stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001199	"A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	4389794	\N	\N	EFO	6	EFO	disposition	subvalvular aortic stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001199	"A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	5409453	\N	\N	EFO	7	EFO	material property	subvalvular aortic stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001199	"A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." []	6147657	\N	\N	EFO	8	EFO	experimental factor	subvalvular aortic stenosis
EFO:1001200	\N	\N	"A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" []	EFO:1001200	"A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" []	70787	\N	\N	EFO	0	EFO	sulfhemoglobinemia	sulfhemoglobinemia
EFO:0000540	EFO:1001200	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001200	"A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" []	213309	\N	\N	EFO	1	EFO	immune system disease	sulfhemoglobinemia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001200	"A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" []	567117	\N	\N	EFO	2	EFO	disease	sulfhemoglobinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001200	"A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" []	1148548	\N	\N	EFO	3	EFO	disposition	sulfhemoglobinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001200	"A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" []	2030796	\N	\N	EFO	4	EFO	material property	sulfhemoglobinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001200	"A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" []	3181425	\N	\N	EFO	5	EFO	experimental factor	sulfhemoglobinemia
EFO:1001201	\N	\N	"DUODENAL OBSTRUCTION by the superior mesenteric artery (MESENTERIC ARTERY, SUPERIOR) which travels in the root of the MESENTERY and crosses over the DUODENUM. The syndrome is characterized by the dilated proximal duodenum and STOMACH, bloating, ABDOMINAL CRAMPS, and VOMITING. Often it is observed in patient with body casts after spinal surgery." []	EFO:1001201	"DUODENAL OBSTRUCTION by the superior mesenteric artery (MESENTERIC ARTERY, SUPERIOR) which travels in the root of the MESENTERY and crosses over the DUODENUM. The syndrome is characterized by the dilated proximal duodenum and STOMACH, bloating, ABDOMINAL CRAMPS, and VOMITING. Often it is observed in patient with body casts after spinal surgery." []	70788	\N	\N	EFO	0	EFO	superior mesenteric artery syndrome	superior mesenteric artery syndrome
EFO:1000908	EFO:1001201	\N	"Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents." []	EFO:1001201	"DUODENAL OBSTRUCTION by the superior mesenteric artery (MESENTERIC ARTERY, SUPERIOR) which travels in the root of the MESENTERY and crosses over the DUODENUM. The syndrome is characterized by the dilated proximal duodenum and STOMACH, bloating, ABDOMINAL CRAMPS, and VOMITING. Often it is observed in patient with body casts after spinal surgery." []	213310	\N	\N	EFO	1	EFO	duodenal obstruction	superior mesenteric artery syndrome
EFO:1001202	\N	\N	"Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)" []	EFO:1001202	"Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)" []	70789	\N	\N	EFO	0	EFO	suppurative periapical periodontitis	suppurative periapical periodontitis
EFO:0000649	EFO:1001202	\N	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	EFO:1001202	"Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)" []	213311	\N	\N	EFO	1	EFO	periodontitis	suppurative periapical periodontitis
EFO:0000524	EFO:0000649	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001202	"Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)" []	567118	\N	\N	EFO	2	EFO	head disease	suppurative periapical periodontitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001202	"Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)" []	1148549	\N	\N	EFO	3	EFO	disease	suppurative periapical periodontitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001202	"Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)" []	2030797	\N	\N	EFO	4	EFO	disposition	suppurative periapical periodontitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001202	"Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)" []	3181426	\N	\N	EFO	5	EFO	material property	suppurative periapical periodontitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001202	"Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)" []	4389795	\N	\N	EFO	6	EFO	experimental factor	suppurative periapical periodontitis
EFO:1001203	\N	\N	"Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." []	EFO:1001203	"Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." []	70790	\N	\N	EFO	0	EFO	suppurative uveitis	suppurative uveitis
EFO:1001231	EFO:1001203	\N	"inflammation of one or all portions of the uveal tract" []	EFO:1001203	"Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." []	213312	\N	\N	EFO	1	EFO	uveitis	suppurative uveitis
EFO:0003966	EFO:1001231	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001203	"Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." []	567119	\N	\N	EFO	2	EFO	eye disease	suppurative uveitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001203	"Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." []	1148550	\N	\N	EFO	3	EFO	disease	suppurative uveitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001203	"Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." []	2030798	\N	\N	EFO	4	EFO	disposition	suppurative uveitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001203	"Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." []	3181427	\N	\N	EFO	5	EFO	material property	suppurative uveitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001203	"Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." []	4389796	\N	\N	EFO	6	EFO	experimental factor	suppurative uveitis
EFO:1001204	\N	\N	"A benign or malignant neoplasm arising from the sweat glands." []	EFO:1001204	"A benign or malignant neoplasm arising from the sweat glands." []	70791	\N	\N	EFO	0	EFO	sweat gland neoplasm	sweat gland neoplasm
EFO:0004198	EFO:1001204	\N	"Tumors or cancer of the SKIN." []	EFO:1001204	"A benign or malignant neoplasm arising from the sweat glands." []	213313	\N	\N	EFO	1	EFO	skin neoplasm	sweat gland neoplasm
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001204	"A benign or malignant neoplasm arising from the sweat glands." []	567120	\N	\N	EFO	2	EFO	neoplasm	sweat gland neoplasm
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001204	"A benign or malignant neoplasm arising from the sweat glands." []	567121	\N	\N	EFO	2	EFO	skin disease	sweat gland neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001204	"A benign or malignant neoplasm arising from the sweat glands." []	1148551	\N	\N	EFO	3	EFO	disease	sweat gland neoplasm
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001204	"A benign or malignant neoplasm arising from the sweat glands." []	1148552	\N	\N	EFO	3	EFO	disease	sweat gland neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001204	"A benign or malignant neoplasm arising from the sweat glands." []	2030799	\N	\N	EFO	4	EFO	disposition	sweat gland neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001204	"A benign or malignant neoplasm arising from the sweat glands." []	3181428	\N	\N	EFO	5	EFO	material property	sweat gland neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001204	"A benign or malignant neoplasm arising from the sweat glands." []	4389797	\N	\N	EFO	6	EFO	experimental factor	sweat gland neoplasm
EFO:1001205	\N	\N	"Granulomatous uveitis which follows in one eye after a penetrating injury to the other eye; the secondarily affected eye is called the sympathizing eye, and the injured eye is called the exciting or activating eye." []	EFO:1001205	"Granulomatous uveitis which follows in one eye after a penetrating injury to the other eye; the secondarily affected eye is called the sympathizing eye, and the injured eye is called the exciting or activating eye." []	70792	\N	\N	EFO	0	EFO	sympathetic ophthalmia	sympathetic ophthalmia
EFO:1001082	EFO:1001205	\N	"Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." []	EFO:1001205	"Granulomatous uveitis which follows in one eye after a penetrating injury to the other eye; the secondarily affected eye is called the sympathizing eye, and the injured eye is called the exciting or activating eye." []	213314	\N	\N	EFO	1	EFO	panuveitis	sympathetic ophthalmia
EFO:1001231	EFO:1001082	\N	"inflammation of one or all portions of the uveal tract" []	EFO:1001205	"Granulomatous uveitis which follows in one eye after a penetrating injury to the other eye; the secondarily affected eye is called the sympathizing eye, and the injured eye is called the exciting or activating eye." []	567122	\N	\N	EFO	2	EFO	uveitis	sympathetic ophthalmia
EFO:0003966	EFO:1001231	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001205	"Granulomatous uveitis which follows in one eye after a penetrating injury to the other eye; the secondarily affected eye is called the sympathizing eye, and the injured eye is called the exciting or activating eye." []	1148553	\N	\N	EFO	3	EFO	eye disease	sympathetic ophthalmia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001205	"Granulomatous uveitis which follows in one eye after a penetrating injury to the other eye; the secondarily affected eye is called the sympathizing eye, and the injured eye is called the exciting or activating eye." []	2030800	\N	\N	EFO	4	EFO	disease	sympathetic ophthalmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001205	"Granulomatous uveitis which follows in one eye after a penetrating injury to the other eye; the secondarily affected eye is called the sympathizing eye, and the injured eye is called the exciting or activating eye." []	3181429	\N	\N	EFO	5	EFO	disposition	sympathetic ophthalmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001205	"Granulomatous uveitis which follows in one eye after a penetrating injury to the other eye; the secondarily affected eye is called the sympathizing eye, and the injured eye is called the exciting or activating eye." []	4389798	\N	\N	EFO	6	EFO	material property	sympathetic ophthalmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001205	"Granulomatous uveitis which follows in one eye after a penetrating injury to the other eye; the secondarily affected eye is called the sympathizing eye, and the injured eye is called the exciting or activating eye." []	5409454	\N	\N	EFO	7	EFO	experimental factor	sympathetic ophthalmia
EFO:1001206	\N	\N	"Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." []	EFO:1001206	"Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." []	70793	\N	\N	EFO	0	EFO	syphilitic aortitis	syphilitic aortitis
EFO:0004264	EFO:1001206	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001206	"Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." []	213315	\N	\N	EFO	1	EFO	vascular disease	syphilitic aortitis
EFO:0007504	EFO:1001206	\N	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	EFO:1001206	"Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." []	213316	\N	\N	EFO	1	EFO	syphilis	syphilitic aortitis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001206	"Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." []	567123	\N	\N	EFO	2	EFO	cardiovascular disease	syphilitic aortitis
EFO:0000771	EFO:0007504	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001206	"Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." []	567124	\N	\N	EFO	2	EFO	bacterial disease	syphilitic aortitis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001206	"Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." []	1148554	\N	\N	EFO	3	EFO	disease	syphilitic aortitis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001206	"Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." []	1148555	\N	\N	EFO	3	EFO	infectious disease	syphilitic aortitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001206	"Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." []	3181431	\N	\N	EFO	5	EFO	disposition	syphilitic aortitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001206	"Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." []	2030802	\N	\N	EFO	4	EFO	disease	syphilitic aortitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001206	"Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." []	4133105	\N	\N	EFO	6	EFO	material property	syphilitic aortitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001206	"Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." []	5181339	\N	\N	EFO	7	EFO	experimental factor	syphilitic aortitis
EFO:1001207	\N	\N	"Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." []	EFO:1001207	"Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." []	70794	\N	\N	EFO	0	EFO	systolic heart failure	systolic heart failure
EFO:0000373	EFO:1001207	\N	"Heart failure involving the RIGHT VENTRICLE." []	EFO:1001207	"Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." []	213317	\N	\N	EFO	1	EFO	congestive heart failure	systolic heart failure
EFO:0003144	EFO:0000373	\N	"Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." []	EFO:1001207	"Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." []	567125	\N	\N	EFO	2	EFO	heart failure	systolic heart failure
EFO:0003777	EFO:0003144	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001207	"Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." []	1148556	\N	\N	EFO	3	EFO	heart disease	systolic heart failure
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001207	"Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." []	2030803	\N	\N	EFO	4	EFO	cardiovascular disease	systolic heart failure
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001207	"Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." []	3181432	\N	\N	EFO	5	EFO	disease	systolic heart failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001207	"Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." []	4389800	\N	\N	EFO	6	EFO	disposition	systolic heart failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001207	"Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." []	5409455	\N	\N	EFO	7	EFO	material property	systolic heart failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001207	"Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." []	6147658	\N	\N	EFO	8	EFO	experimental factor	systolic heart failure
EFO:1001208	\N	\N	"Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" []	EFO:1001208	"Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" []	70795	\N	\N	EFO	0	EFO	tarsal tunnel syndrome	tarsal tunnel syndrome
EFO:1001213	EFO:1001208	\N	"Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" []	EFO:1001208	"Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" []	213318	\N	\N	EFO	1	EFO	tibial neuropathy	tarsal tunnel syndrome
EFO:0004149	EFO:1001213	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001208	"Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" []	567126	\N	\N	EFO	2	EFO	neuropathy	tarsal tunnel syndrome
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001208	"Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" []	1148557	\N	\N	EFO	3	EFO	nervous system disease	tarsal tunnel syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001208	"Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" []	2030804	\N	\N	EFO	4	EFO	disease	tarsal tunnel syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001208	"Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" []	3181433	\N	\N	EFO	5	EFO	disposition	tarsal tunnel syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001208	"Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" []	4389801	\N	\N	EFO	6	EFO	material property	tarsal tunnel syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001208	"Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" []	5409456	\N	\N	EFO	7	EFO	experimental factor	tarsal tunnel syndrome
EFO:1001209	\N	\N	"A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)" []	EFO:1001209	"A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)" []	70796	\N	\N	EFO	0	EFO	temporal arteritis	temporal arteritis
EFO:0006803	EFO:1001209	\N	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	EFO:1001209	"A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)" []	213319	\N	\N	EFO	1	EFO	vasculitis	temporal arteritis
EFO:0004264	EFO:0006803	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001209	"A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)" []	567127	\N	\N	EFO	2	EFO	vascular disease	temporal arteritis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001209	"A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)" []	1148558	\N	\N	EFO	3	EFO	cardiovascular disease	temporal arteritis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001209	"A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)" []	2030805	\N	\N	EFO	4	EFO	disease	temporal arteritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001209	"A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)" []	3181434	\N	\N	EFO	5	EFO	disposition	temporal arteritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001209	"A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)" []	4389802	\N	\N	EFO	6	EFO	material property	temporal arteritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001209	"A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)" []	5409457	\N	\N	EFO	7	EFO	experimental factor	temporal arteritis
EFO:1001210	\N	\N	"Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)" []	EFO:1001210	"Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)" []	70797	\N	\N	EFO	0	EFO	tethered spinal cord syndrome	tethered spinal cord syndrome
EFO:0000508	EFO:1001210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001210	"Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)" []	213320	\N	\N	EFO	1	EFO	genetic disorder	tethered spinal cord syndrome
EFO:0000618	EFO:1001210	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001210	"Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)" []	213321	\N	\N	EFO	1	EFO	nervous system disease	tethered spinal cord syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001210	"Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)" []	567128	\N	\N	EFO	2	EFO	disease	tethered spinal cord syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001210	"Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)" []	567129	\N	\N	EFO	2	EFO	disease	tethered spinal cord syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001210	"Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)" []	1148559	\N	\N	EFO	3	EFO	disposition	tethered spinal cord syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001210	"Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)" []	2030806	\N	\N	EFO	4	EFO	material property	tethered spinal cord syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001210	"Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)" []	3181435	\N	\N	EFO	5	EFO	experimental factor	tethered spinal cord syndrome
EFO:1001211	\N	\N	"A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." []	EFO:1001211	"A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." []	70798	\N	\N	EFO	0	EFO	thromboangiitis obliterans	thromboangiitis obliterans
EFO:0003875	EFO:1001211	\N	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	EFO:1001211	"A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." []	213322	\N	\N	EFO	1	EFO	peripheral vascular disease	thromboangiitis obliterans
EFO:0004264	EFO:0003875	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001211	"A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." []	567130	\N	\N	EFO	2	EFO	vascular disease	thromboangiitis obliterans
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001211	"A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." []	1148560	\N	\N	EFO	3	EFO	cardiovascular disease	thromboangiitis obliterans
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001211	"A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." []	2030807	\N	\N	EFO	4	EFO	disease	thromboangiitis obliterans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001211	"A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." []	3181436	\N	\N	EFO	5	EFO	disposition	thromboangiitis obliterans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001211	"A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." []	4389803	\N	\N	EFO	6	EFO	material property	thromboangiitis obliterans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001211	"A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." []	5409458	\N	\N	EFO	7	EFO	experimental factor	thromboangiitis obliterans
EFO:1001212	\N	\N	"A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." []	EFO:1001212	"A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." []	70799	\N	\N	EFO	0	EFO	thyroid crisis	thyroid crisis
EFO:1000627	EFO:1001212	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1001212	"A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." []	213323	\N	\N	EFO	1	EFO	thyroid disease	thyroid crisis
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001212	"A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." []	567131	\N	\N	EFO	2	EFO	endocrine system disease	thyroid crisis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001212	"A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." []	1148561	\N	\N	EFO	3	EFO	disease	thyroid crisis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001212	"A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." []	2030808	\N	\N	EFO	4	EFO	disposition	thyroid crisis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001212	"A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." []	3181437	\N	\N	EFO	5	EFO	material property	thyroid crisis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001212	"A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." []	4389804	\N	\N	EFO	6	EFO	experimental factor	thyroid crisis
EFO:1001213	\N	\N	"Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" []	EFO:1001213	"Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" []	70800	\N	\N	EFO	0	EFO	tibial neuropathy	tibial neuropathy
EFO:0004149	EFO:1001213	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001213	"Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" []	213324	\N	\N	EFO	1	EFO	neuropathy	tibial neuropathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001213	"Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" []	567132	\N	\N	EFO	2	EFO	nervous system disease	tibial neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001213	"Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" []	1148562	\N	\N	EFO	3	EFO	disease	tibial neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001213	"Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" []	2030809	\N	\N	EFO	4	EFO	disposition	tibial neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001213	"Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" []	3181438	\N	\N	EFO	5	EFO	material property	tibial neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001213	"Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" []	4389805	\N	\N	EFO	6	EFO	experimental factor	tibial neuropathy
EFO:1001214	\N	\N	"Tumors or cancer of the PALATINE TONSIL." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	70801	\N	\N	EFO	0	EFO	tonsil cancer	tonsil cancer
EFO:0000313	EFO:1001214	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	213325	\N	\N	EFO	1	EFO	carcinoma	tonsil cancer
EFO:0000405	EFO:1001214	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	213326	\N	\N	EFO	1	EFO	digestive system disease	tonsil cancer
EFO:0003853	EFO:1001214	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	213327	\N	\N	EFO	1	EFO	respiratory system neoplasm	tonsil cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	567133	\N	\N	EFO	2	EFO	cancer	tonsil cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	567134	\N	\N	EFO	2	EFO	epithelial neoplasm	tonsil cancer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	567135	\N	\N	EFO	2	EFO	disease	tonsil cancer
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	567136	\N	\N	EFO	2	EFO	neoplasm	tonsil cancer
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	567137	\N	\N	EFO	2	EFO	respiratory system disease	tonsil cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	1148563	\N	\N	EFO	3	EFO	neoplasm	tonsil cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	1148564	\N	\N	EFO	3	EFO	neoplasm	tonsil cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	3000083	\N	\N	EFO	5	EFO	disposition	tonsil cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	2030810	\N	\N	EFO	4	EFO	disease	tonsil cancer
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	1148567	\N	\N	EFO	3	EFO	disease	tonsil cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	4066817	\N	\N	EFO	6	EFO	material property	tonsil cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001214	"Tumors or cancer of the PALATINE TONSIL." []	5059509	\N	\N	EFO	7	EFO	experimental factor	tonsil cancer
EFO:1001215	\N	\N	"Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" []	EFO:1001215	"Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" []	70802	\N	\N	EFO	0	EFO	tooth ankylosis	tooth ankylosis
EFO:1001216	EFO:1001215	\N	"Any disease of the teeth" []	EFO:1001215	"Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" []	213328	\N	\N	EFO	1	EFO	tooth disease	tooth ankylosis
EFO:1001047	EFO:1001216	\N	"Any disease of the oral cavity" []	EFO:1001215	"Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" []	567138	\N	\N	EFO	2	EFO	mouth disease	tooth ankylosis
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001215	"Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" []	1148568	\N	\N	EFO	3	EFO	digestive system disease	tooth ankylosis
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001215	"Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" []	1148569	\N	\N	EFO	3	EFO	head disease	tooth ankylosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001215	"Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" []	2030813	\N	\N	EFO	4	EFO	disease	tooth ankylosis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001215	"Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" []	2030814	\N	\N	EFO	4	EFO	disease	tooth ankylosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001215	"Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" []	3181440	\N	\N	EFO	5	EFO	disposition	tooth ankylosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001215	"Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" []	4389806	\N	\N	EFO	6	EFO	material property	tooth ankylosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001215	"Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" []	5409459	\N	\N	EFO	7	EFO	experimental factor	tooth ankylosis
EFO:1001216	\N	\N	"Any disease of the teeth" []	EFO:1001216	"Any disease of the teeth" []	70803	\N	\N	EFO	0	EFO	tooth disease	tooth disease
EFO:1001047	EFO:1001216	\N	"Any disease of the oral cavity" []	EFO:1001216	"Any disease of the teeth" []	213329	\N	\N	EFO	1	EFO	mouth disease	tooth disease
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001216	"Any disease of the teeth" []	567139	\N	\N	EFO	2	EFO	digestive system disease	tooth disease
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001216	"Any disease of the teeth" []	567140	\N	\N	EFO	2	EFO	head disease	tooth disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001216	"Any disease of the teeth" []	1148570	\N	\N	EFO	3	EFO	disease	tooth disease
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001216	"Any disease of the teeth" []	1148571	\N	\N	EFO	3	EFO	disease	tooth disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001216	"Any disease of the teeth" []	2030815	\N	\N	EFO	4	EFO	disposition	tooth disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001216	"Any disease of the teeth" []	3181441	\N	\N	EFO	5	EFO	material property	tooth disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001216	"Any disease of the teeth" []	4389807	\N	\N	EFO	6	EFO	experimental factor	tooth disease
EFO:1001217	\N	\N	"Infections with bacteria of the genus TREPONEMA." []	EFO:1001217	"Infections with bacteria of the genus TREPONEMA." []	70804	\N	\N	EFO	0	EFO	Treponema infectious disease	Treponema infectious disease
EFO:0000771	EFO:1001217	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001217	"Infections with bacteria of the genus TREPONEMA." []	213330	\N	\N	EFO	1	EFO	bacterial disease	Treponema infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001217	"Infections with bacteria of the genus TREPONEMA." []	567141	\N	\N	EFO	2	EFO	infectious disease	Treponema infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001217	"Infections with bacteria of the genus TREPONEMA." []	1148572	\N	\N	EFO	3	EFO	disease	Treponema infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001217	"Infections with bacteria of the genus TREPONEMA." []	2030816	\N	\N	EFO	4	EFO	disposition	Treponema infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001217	"Infections with bacteria of the genus TREPONEMA." []	3181442	\N	\N	EFO	5	EFO	material property	Treponema infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001217	"Infections with bacteria of the genus TREPONEMA." []	4389808	\N	\N	EFO	6	EFO	experimental factor	Treponema infectious disease
EFO:1001218	\N	\N	"Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus." []	EFO:1001218	"Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus." []	70805	\N	\N	EFO	0	EFO	tricuspid valve prolapse	tricuspid valve prolapse
EFO:0005775	EFO:1001218	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:1001218	"Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus." []	213331	\N	\N	EFO	1	EFO	aortic disease	tricuspid valve prolapse
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001218	"Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus." []	567142	\N	\N	EFO	2	EFO	vascular disease	tricuspid valve prolapse
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001218	"Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus." []	1148573	\N	\N	EFO	3	EFO	cardiovascular disease	tricuspid valve prolapse
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001218	"Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus." []	2030817	\N	\N	EFO	4	EFO	disease	tricuspid valve prolapse
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001218	"Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus." []	3181443	\N	\N	EFO	5	EFO	disposition	tricuspid valve prolapse
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001218	"Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus." []	4389809	\N	\N	EFO	6	EFO	material property	tricuspid valve prolapse
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001218	"Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus." []	5409460	\N	\N	EFO	7	EFO	experimental factor	tricuspid valve prolapse
EFO:1001219	\N	\N	"A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" []	EFO:1001219	"A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" []	70806	\N	\N	EFO	0	EFO	trigeminal neuralgia	trigeminal neuralgia
EFO:0004149	EFO:1001219	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001219	"A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" []	213332	\N	\N	EFO	1	EFO	neuropathy	trigeminal neuralgia
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001219	"A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" []	567143	\N	\N	EFO	2	EFO	nervous system disease	trigeminal neuralgia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001219	"A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" []	1148574	\N	\N	EFO	3	EFO	disease	trigeminal neuralgia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001219	"A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" []	2030818	\N	\N	EFO	4	EFO	disposition	trigeminal neuralgia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001219	"A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" []	3181444	\N	\N	EFO	5	EFO	material property	trigeminal neuralgia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001219	"A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" []	4389810	\N	\N	EFO	6	EFO	experimental factor	trigeminal neuralgia
EFO:1001220	\N	\N	"Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS." []	EFO:1001220	"Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS." []	70807	\N	\N	EFO	0	EFO	trochlear nerve disease	trochlear nerve disease
EFO:0004149	EFO:1001220	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001220	"Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS." []	213333	\N	\N	EFO	1	EFO	neuropathy	trochlear nerve disease
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001220	"Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS." []	567144	\N	\N	EFO	2	EFO	nervous system disease	trochlear nerve disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001220	"Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS." []	1148575	\N	\N	EFO	3	EFO	disease	trochlear nerve disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001220	"Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS." []	2030819	\N	\N	EFO	4	EFO	disposition	trochlear nerve disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001220	"Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS." []	3181445	\N	\N	EFO	5	EFO	material property	trochlear nerve disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001220	"Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS." []	4389811	\N	\N	EFO	6	EFO	experimental factor	trochlear nerve disease
EFO:1001221	\N	\N	"Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)" []	EFO:1001221	"Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)" []	70808	\N	\N	EFO	0	EFO	twin-to-twin transfusion syndrome	twin-to-twin transfusion syndrome
EFO:0000408	EFO:1001221	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001221	"Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)" []	213334	\N	\N	EFO	1	EFO	disease	twin-to-twin transfusion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001221	"Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)" []	567145	\N	\N	EFO	2	EFO	disposition	twin-to-twin transfusion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001221	"Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)" []	1148576	\N	\N	EFO	3	EFO	material property	twin-to-twin transfusion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001221	"Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)" []	2030820	\N	\N	EFO	4	EFO	experimental factor	twin-to-twin transfusion syndrome
EFO:1001222	\N	\N	"Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA." []	EFO:1001222	"Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA." []	70809	\N	\N	EFO	0	EFO	type III hypersensitivity reaction disease	type III hypersensitivity reaction disease
EFO:1002003	EFO:1001222	\N	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	EFO:1001222	"Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA." []	213335	\N	\N	EFO	1	EFO	hypersensitivity reaction disease	type III hypersensitivity reaction disease
EFO:0000540	EFO:1002003	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001222	"Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA." []	567146	\N	\N	EFO	2	EFO	immune system disease	type III hypersensitivity reaction disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001222	"Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA." []	1148577	\N	\N	EFO	3	EFO	disease	type III hypersensitivity reaction disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001222	"Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA." []	2030821	\N	\N	EFO	4	EFO	disposition	type III hypersensitivity reaction disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001222	"Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA." []	3181446	\N	\N	EFO	5	EFO	material property	type III hypersensitivity reaction disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001222	"Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA." []	4389812	\N	\N	EFO	6	EFO	experimental factor	type III hypersensitivity reaction disease
EFO:1001223	\N	\N	"Inflammation of the RECTUM and the distal portion of the COLON." []	EFO:1001223	"Inflammation of the RECTUM and the distal portion of the COLON." []	70810	\N	\N	EFO	0	EFO	ulcerative proctosigmoiditis	ulcerative proctosigmoiditis
EFO:0003767	EFO:1001223	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	EFO:1001223	"Inflammation of the RECTUM and the distal portion of the COLON." []	213336	\N	\N	EFO	1	EFO	inflammatory bowel disease	ulcerative proctosigmoiditis
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001223	"Inflammation of the RECTUM and the distal portion of the COLON." []	567147	\N	\N	EFO	2	EFO	digestive system disease	ulcerative proctosigmoiditis
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1001223	"Inflammation of the RECTUM and the distal portion of the COLON." []	567148	\N	\N	EFO	2	EFO	autoimmune disease	ulcerative proctosigmoiditis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001223	"Inflammation of the RECTUM and the distal portion of the COLON." []	1148578	\N	\N	EFO	3	EFO	disease	ulcerative proctosigmoiditis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001223	"Inflammation of the RECTUM and the distal portion of the COLON." []	1148579	\N	\N	EFO	3	EFO	immune system disease	ulcerative proctosigmoiditis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001223	"Inflammation of the RECTUM and the distal portion of the COLON." []	3181448	\N	\N	EFO	5	EFO	disposition	ulcerative proctosigmoiditis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001223	"Inflammation of the RECTUM and the distal portion of the COLON." []	2030823	\N	\N	EFO	4	EFO	disease	ulcerative proctosigmoiditis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001223	"Inflammation of the RECTUM and the distal portion of the COLON." []	4133107	\N	\N	EFO	6	EFO	material property	ulcerative proctosigmoiditis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001223	"Inflammation of the RECTUM and the distal portion of the COLON." []	5181340	\N	\N	EFO	7	EFO	experimental factor	ulcerative proctosigmoiditis
EFO:1001224	\N	\N	"Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" []	EFO:1001224	"Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" []	70811	\N	\N	EFO	0	EFO	ulnar neuropathy	ulnar neuropathy
EFO:0004149	EFO:1001224	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001224	"Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" []	213337	\N	\N	EFO	1	EFO	neuropathy	ulnar neuropathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001224	"Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" []	567149	\N	\N	EFO	2	EFO	nervous system disease	ulnar neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001224	"Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" []	1148580	\N	\N	EFO	3	EFO	disease	ulnar neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001224	"Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" []	2030824	\N	\N	EFO	4	EFO	disposition	ulnar neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001224	"Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" []	3181449	\N	\N	EFO	5	EFO	material property	ulnar neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001224	"Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" []	4389814	\N	\N	EFO	6	EFO	experimental factor	ulnar neuropathy
EFO:1001225	\N	\N	"Infections with bacteria of the genus UREAPLASMA." []	EFO:1001225	"Infections with bacteria of the genus UREAPLASMA." []	70812	\N	\N	EFO	0	EFO	Ureaplasma urealyticum urethritis	Ureaplasma urealyticum urethritis
EFO:0000771	EFO:1001225	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001225	"Infections with bacteria of the genus UREAPLASMA." []	213338	\N	\N	EFO	1	EFO	bacterial disease	Ureaplasma urealyticum urethritis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001225	"Infections with bacteria of the genus UREAPLASMA." []	567150	\N	\N	EFO	2	EFO	infectious disease	Ureaplasma urealyticum urethritis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001225	"Infections with bacteria of the genus UREAPLASMA." []	1148581	\N	\N	EFO	3	EFO	disease	Ureaplasma urealyticum urethritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001225	"Infections with bacteria of the genus UREAPLASMA." []	2030825	\N	\N	EFO	4	EFO	disposition	Ureaplasma urealyticum urethritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001225	"Infections with bacteria of the genus UREAPLASMA." []	3181450	\N	\N	EFO	5	EFO	material property	Ureaplasma urealyticum urethritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001225	"Infections with bacteria of the genus UREAPLASMA." []	4389815	\N	\N	EFO	6	EFO	experimental factor	Ureaplasma urealyticum urethritis
EFO:1001226	\N	\N	"A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." []	EFO:1001226	"A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." []	70813	\N	\N	EFO	0	EFO	uremia	uremia
EFO:0003086	EFO:1001226	\N	"A disease affecting the kidneys" []	EFO:1001226	"A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." []	213339	\N	\N	EFO	1	EFO	kidney disease	uremia
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001226	"A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." []	567151	\N	\N	EFO	2	EFO	disease	uremia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001226	"A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." []	1148582	\N	\N	EFO	3	EFO	disposition	uremia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001226	"A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." []	2030826	\N	\N	EFO	4	EFO	material property	uremia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001226	"A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." []	3181451	\N	\N	EFO	5	EFO	experimental factor	uremia
EFO:1001227	\N	\N	"A cystic dilatation of the end of a URETER as it enters into the URINARY BLADDER. It is characterized by the ballooning of the ureteral orifice into the lumen of the bladder and may obstruct urine flow." []	EFO:1001227	"A cystic dilatation of the end of a URETER as it enters into the URINARY BLADDER. It is characterized by the ballooning of the ureteral orifice into the lumen of the bladder and may obstruct urine flow." []	70814	\N	\N	EFO	0	EFO	ureterocele	ureterocele
EFO:1000018	EFO:1001227	\N	"A disorder affecting the urinary bladder" []	EFO:1001227	"A cystic dilatation of the end of a URETER as it enters into the URINARY BLADDER. It is characterized by the ballooning of the ureteral orifice into the lumen of the bladder and may obstruct urine flow." []	213340	\N	\N	EFO	1	EFO	bladder disease	ureterocele
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001227	"A cystic dilatation of the end of a URETER as it enters into the URINARY BLADDER. It is characterized by the ballooning of the ureteral orifice into the lumen of the bladder and may obstruct urine flow." []	567152	\N	\N	EFO	2	EFO	disease	ureterocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001227	"A cystic dilatation of the end of a URETER as it enters into the URINARY BLADDER. It is characterized by the ballooning of the ureteral orifice into the lumen of the bladder and may obstruct urine flow." []	1148583	\N	\N	EFO	3	EFO	disposition	ureterocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001227	"A cystic dilatation of the end of a URETER as it enters into the URINARY BLADDER. It is characterized by the ballooning of the ureteral orifice into the lumen of the bladder and may obstruct urine flow." []	2030827	\N	\N	EFO	4	EFO	material property	ureterocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001227	"A cystic dilatation of the end of a URETER as it enters into the URINARY BLADDER. It is characterized by the ballooning of the ureteral orifice into the lumen of the bladder and may obstruct urine flow." []	3181452	\N	\N	EFO	5	EFO	experimental factor	ureterocele
EFO:1001228	\N	\N	"Formation of stones in the URETER." []	EFO:1001228	"Formation of stones in the URETER." []	70815	\N	\N	EFO	0	EFO	ureterolithiasis	ureterolithiasis
EFO:1000018	EFO:1001228	\N	"A disorder affecting the urinary bladder" []	EFO:1001228	"Formation of stones in the URETER." []	213341	\N	\N	EFO	1	EFO	bladder disease	ureterolithiasis
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001228	"Formation of stones in the URETER." []	567153	\N	\N	EFO	2	EFO	disease	ureterolithiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001228	"Formation of stones in the URETER." []	1148584	\N	\N	EFO	3	EFO	disposition	ureterolithiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001228	"Formation of stones in the URETER." []	2030828	\N	\N	EFO	4	EFO	material property	ureterolithiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001228	"Formation of stones in the URETER." []	3181453	\N	\N	EFO	5	EFO	experimental factor	ureterolithiasis
EFO:1001229	\N	\N	"The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." []	EFO:1001229	"The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." []	70816	\N	\N	EFO	0	EFO	urticaria pigmentosa	urticaria pigmentosa
EFO:1000886	EFO:1001229	\N	"Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." []	EFO:1001229	"The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." []	213342	\N	\N	EFO	1	EFO	cutaneous mastocytosis	urticaria pigmentosa
EFO:0004198	EFO:1000886	\N	"Tumors or cancer of the SKIN." []	EFO:1001229	"The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." []	567154	\N	\N	EFO	2	EFO	skin neoplasm	urticaria pigmentosa
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001229	"The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." []	1148585	\N	\N	EFO	3	EFO	neoplasm	urticaria pigmentosa
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001229	"The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." []	1148586	\N	\N	EFO	3	EFO	skin disease	urticaria pigmentosa
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001229	"The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." []	2030829	\N	\N	EFO	4	EFO	disease	urticaria pigmentosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001229	"The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." []	2030830	\N	\N	EFO	4	EFO	disease	urticaria pigmentosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001229	"The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." []	3181454	\N	\N	EFO	5	EFO	disposition	urticaria pigmentosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001229	"The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." []	4389816	\N	\N	EFO	6	EFO	material property	urticaria pigmentosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001229	"The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." []	5409461	\N	\N	EFO	7	EFO	experimental factor	urticaria pigmentosa
EFO:1001230	\N	\N	"Tumors or cancer of the UVEA." []	EFO:1001230	"Tumors or cancer of the UVEA." []	70817	\N	\N	EFO	0	EFO	uveal cancer	uveal cancer
EFO:0003824	EFO:1001230	\N	"Tumors or cancer of the EYE." []	EFO:1001230	"Tumors or cancer of the UVEA." []	213343	\N	\N	EFO	1	EFO	eye neoplasm	uveal cancer
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001230	"Tumors or cancer of the UVEA." []	567155	\N	\N	EFO	2	EFO	neoplasm	uveal cancer
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001230	"Tumors or cancer of the UVEA." []	567156	\N	\N	EFO	2	EFO	eye disease	uveal cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001230	"Tumors or cancer of the UVEA." []	1148587	\N	\N	EFO	3	EFO	disease	uveal cancer
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001230	"Tumors or cancer of the UVEA." []	1148588	\N	\N	EFO	3	EFO	disease	uveal cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001230	"Tumors or cancer of the UVEA." []	2030831	\N	\N	EFO	4	EFO	disposition	uveal cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001230	"Tumors or cancer of the UVEA." []	3181455	\N	\N	EFO	5	EFO	material property	uveal cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001230	"Tumors or cancer of the UVEA." []	4389817	\N	\N	EFO	6	EFO	experimental factor	uveal cancer
EFO:1001231	\N	\N	"inflammation of one or all portions of the uveal tract" []	EFO:1001231	"inflammation of one or all portions of the uveal tract" []	70818	\N	\N	EFO	0	EFO	uveitis	uveitis
EFO:0003966	EFO:1001231	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001231	"inflammation of one or all portions of the uveal tract" []	213344	\N	\N	EFO	1	EFO	eye disease	uveitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001231	"inflammation of one or all portions of the uveal tract" []	567157	\N	\N	EFO	2	EFO	disease	uveitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001231	"inflammation of one or all portions of the uveal tract" []	1148589	\N	\N	EFO	3	EFO	disposition	uveitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001231	"inflammation of one or all portions of the uveal tract" []	2030832	\N	\N	EFO	4	EFO	material property	uveitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001231	"inflammation of one or all portions of the uveal tract" []	3181456	\N	\N	EFO	5	EFO	experimental factor	uveitis
EFO:1001232	\N	\N	"A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." []	EFO:1001232	"A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." []	70819	\N	\N	EFO	0	EFO	uveoparotid fever	uveoparotid fever
Orphanet:797	EFO:1001232	\N	"" []	EFO:1001232	"A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." []	213345	\N	\N	EFO	1	EFO	Sarcoidosis	uveoparotid fever
EFO:0003818	Orphanet:797	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001232	"A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." []	567158	\N	\N	EFO	2	EFO	lung disease	uveoparotid fever
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001232	"A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." []	1148590	\N	\N	EFO	3	EFO	respiratory system disease	uveoparotid fever
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001232	"A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." []	2030833	\N	\N	EFO	4	EFO	disease	uveoparotid fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001232	"A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." []	3181457	\N	\N	EFO	5	EFO	disposition	uveoparotid fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001232	"A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." []	4389818	\N	\N	EFO	6	EFO	material property	uveoparotid fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001232	"A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." []	5409462	\N	\N	EFO	7	EFO	experimental factor	uveoparotid fever
EFO:1001233	\N	\N	"A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)" []	EFO:1001233	"A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)" []	70820	\N	\N	EFO	0	EFO	variant Creutzfeldt-Jakob disease	variant Creutzfeldt-Jakob disease
EFO:0004720	EFO:1001233	\N	"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)" []	EFO:1001233	"A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)" []	213346	\N	\N	EFO	1	EFO	prion disease	variant Creutzfeldt-Jakob disease
EFO:0000618	EFO:0004720	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001233	"A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)" []	567159	\N	\N	EFO	2	EFO	nervous system disease	variant Creutzfeldt-Jakob disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001233	"A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)" []	1148591	\N	\N	EFO	3	EFO	disease	variant Creutzfeldt-Jakob disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001233	"A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)" []	2030834	\N	\N	EFO	4	EFO	disposition	variant Creutzfeldt-Jakob disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001233	"A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)" []	3181458	\N	\N	EFO	5	EFO	material property	variant Creutzfeldt-Jakob disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001233	"A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)" []	4389819	\N	\N	EFO	6	EFO	experimental factor	variant Creutzfeldt-Jakob disease
EFO:1001234	\N	\N	"Inability to achieve and maintain an erection (ERECTILE DYSFUNCTION) due to defects in the arterial blood flow to the PENIS, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." []	EFO:1001234	"Inability to achieve and maintain an erection (ERECTILE DYSFUNCTION) due to defects in the arterial blood flow to the PENIS, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." []	70821	\N	\N	EFO	0	EFO	vasculogenic impotence	vasculogenic impotence
EFO:0004234	EFO:1001234	\N	"The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction." []	EFO:1001234	"Inability to achieve and maintain an erection (ERECTILE DYSFUNCTION) due to defects in the arterial blood flow to the PENIS, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." []	213347	\N	\N	EFO	1	EFO	erectile dysfunction	vasculogenic impotence
EFO:0000512	EFO:0004234	\N	"any diease of the reproductive system" []	EFO:1001234	"Inability to achieve and maintain an erection (ERECTILE DYSFUNCTION) due to defects in the arterial blood flow to the PENIS, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." []	567160	\N	\N	EFO	2	EFO	reproductive system disease	vasculogenic impotence
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001234	"Inability to achieve and maintain an erection (ERECTILE DYSFUNCTION) due to defects in the arterial blood flow to the PENIS, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." []	1148592	\N	\N	EFO	3	EFO	disease	vasculogenic impotence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001234	"Inability to achieve and maintain an erection (ERECTILE DYSFUNCTION) due to defects in the arterial blood flow to the PENIS, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." []	2030835	\N	\N	EFO	4	EFO	disposition	vasculogenic impotence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001234	"Inability to achieve and maintain an erection (ERECTILE DYSFUNCTION) due to defects in the arterial blood flow to the PENIS, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." []	3181459	\N	\N	EFO	5	EFO	material property	vasculogenic impotence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001234	"Inability to achieve and maintain an erection (ERECTILE DYSFUNCTION) due to defects in the arterial blood flow to the PENIS, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." []	4389820	\N	\N	EFO	6	EFO	experimental factor	vasculogenic impotence
EFO:1001235	\N	\N	"Infections with bacteria of the genus VIBRIO." []	EFO:1001235	"Infections with bacteria of the genus VIBRIO." []	70822	\N	\N	EFO	0	EFO	Vibrio infectious disease	Vibrio infectious disease
EFO:0000771	EFO:1001235	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001235	"Infections with bacteria of the genus VIBRIO." []	213348	\N	\N	EFO	1	EFO	bacterial disease	Vibrio infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001235	"Infections with bacteria of the genus VIBRIO." []	567161	\N	\N	EFO	2	EFO	infectious disease	Vibrio infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001235	"Infections with bacteria of the genus VIBRIO." []	1148593	\N	\N	EFO	3	EFO	disease	Vibrio infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001235	"Infections with bacteria of the genus VIBRIO." []	2030836	\N	\N	EFO	4	EFO	disposition	Vibrio infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001235	"Infections with bacteria of the genus VIBRIO." []	3181460	\N	\N	EFO	5	EFO	material property	Vibrio infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001235	"Infections with bacteria of the genus VIBRIO." []	4389821	\N	\N	EFO	6	EFO	experimental factor	Vibrio infectious disease
EFO:1001236	\N	\N	"Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" []	EFO:1001236	"Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" []	70823	\N	\N	EFO	0	EFO	viral meningitis	viral meningitis
EFO:0000584	EFO:1001236	\N	"Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." []	EFO:1001236	"Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" []	213349	\N	\N	EFO	1	EFO	infectious meningitis	viral meningitis
EFO:0005741	EFO:0000584	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001236	"Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" []	567162	\N	\N	EFO	2	EFO	infectious disease	viral meningitis
EFO:0005774	EFO:0000584	\N	"A disease affecting the brain or part of the brain." []	EFO:1001236	"Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" []	567163	\N	\N	EFO	2	EFO	brain disease	viral meningitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001236	"Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" []	1148594	\N	\N	EFO	3	EFO	disease	viral meningitis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001236	"Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" []	1148595	\N	\N	EFO	3	EFO	nervous system disease	viral meningitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001236	"Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" []	3181462	\N	\N	EFO	5	EFO	disposition	viral meningitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001236	"Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" []	2030838	\N	\N	EFO	4	EFO	disease	viral meningitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001236	"Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" []	4133108	\N	\N	EFO	6	EFO	material property	viral meningitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001236	"Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" []	5181341	\N	\N	EFO	7	EFO	experimental factor	viral meningitis
EFO:1001237	\N	\N	"A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)" []	EFO:1001237	"A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)" []	70824	\N	\N	EFO	0	EFO	vitamin A deficiency	vitamin A deficiency
EFO:0001069	EFO:1001237	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1001237	"A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)" []	213350	\N	\N	EFO	1	EFO	nutritional disorder	vitamin A deficiency
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001237	"A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)" []	567164	\N	\N	EFO	2	EFO	metabolic disease	vitamin A deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001237	"A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)" []	1148596	\N	\N	EFO	3	EFO	disease	vitamin A deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001237	"A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)" []	2030839	\N	\N	EFO	4	EFO	disposition	vitamin A deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001237	"A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)" []	3181463	\N	\N	EFO	5	EFO	material property	vitamin A deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001237	"A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)" []	4389823	\N	\N	EFO	6	EFO	experimental factor	vitamin A deficiency
EFO:1001238	\N	\N	"Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." []	EFO:1001238	"Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." []	70825	\N	\N	EFO	0	EFO	vitreous detachment	vitreous detachment
Orphanet:98668	EFO:1001238	\N	"" []	EFO:1001238	"Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." []	213351	\N	\N	EFO	1	EFO	Vitreoretinopathy	vitreous detachment
Orphanet:98657	Orphanet:98668	\N	"" []	EFO:1001238	"Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." []	567165	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	vitreous detachment
Orphanet:101435	Orphanet:98657	\N	"" []	EFO:1001238	"Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." []	1148597	\N	\N	EFO	3	EFO	Rare genetic eye disease	vitreous detachment
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001238	"Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." []	2030840	\N	\N	EFO	4	EFO	genetic disorder	vitreous detachment
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001238	"Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." []	2030841	\N	\N	EFO	4	EFO	eye disease	vitreous detachment
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001238	"Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." []	3181464	\N	\N	EFO	5	EFO	disease	vitreous detachment
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001238	"Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." []	3181465	\N	\N	EFO	5	EFO	disease	vitreous detachment
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001238	"Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." []	4389824	\N	\N	EFO	6	EFO	disposition	vitreous detachment
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001238	"Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." []	5409463	\N	\N	EFO	7	EFO	material property	vitreous detachment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001238	"Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." []	6147659	\N	\N	EFO	8	EFO	experimental factor	vitreous detachment
EFO:1001239	\N	\N	"Inflammation of the VULVA. It is characterized by PRURITUS and painful urination." []	EFO:1001239	"Inflammation of the VULVA. It is characterized by PRURITUS and painful urination." []	70826	\N	\N	EFO	0	EFO	vulvitis	vulvitis
EFO:0000512	EFO:1001239	\N	"any diease of the reproductive system" []	EFO:1001239	"Inflammation of the VULVA. It is characterized by PRURITUS and painful urination." []	213352	\N	\N	EFO	1	EFO	reproductive system disease	vulvitis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001239	"Inflammation of the VULVA. It is characterized by PRURITUS and painful urination." []	567166	\N	\N	EFO	2	EFO	disease	vulvitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001239	"Inflammation of the VULVA. It is characterized by PRURITUS and painful urination." []	1148598	\N	\N	EFO	3	EFO	disposition	vulvitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001239	"Inflammation of the VULVA. It is characterized by PRURITUS and painful urination." []	2030842	\N	\N	EFO	4	EFO	material property	vulvitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001239	"Inflammation of the VULVA. It is characterized by PRURITUS and painful urination." []	3181466	\N	\N	EFO	5	EFO	experimental factor	vulvitis
EFO:1001240	\N	\N	"Inflammation of the VULVA and the VAGINA, characterized by discharge, burning, and PRURITUS." []	EFO:1001240	"Inflammation of the VULVA and the VAGINA, characterized by discharge, burning, and PRURITUS." []	70827	\N	\N	EFO	0	EFO	vulvovaginitis	vulvovaginitis
EFO:0000512	EFO:1001240	\N	"any diease of the reproductive system" []	EFO:1001240	"Inflammation of the VULVA and the VAGINA, characterized by discharge, burning, and PRURITUS." []	213353	\N	\N	EFO	1	EFO	reproductive system disease	vulvovaginitis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001240	"Inflammation of the VULVA and the VAGINA, characterized by discharge, burning, and PRURITUS." []	567167	\N	\N	EFO	2	EFO	disease	vulvovaginitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001240	"Inflammation of the VULVA and the VAGINA, characterized by discharge, burning, and PRURITUS." []	1148599	\N	\N	EFO	3	EFO	disposition	vulvovaginitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001240	"Inflammation of the VULVA and the VAGINA, characterized by discharge, burning, and PRURITUS." []	2030843	\N	\N	EFO	4	EFO	material property	vulvovaginitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001240	"Inflammation of the VULVA and the VAGINA, characterized by discharge, burning, and PRURITUS." []	3181467	\N	\N	EFO	5	EFO	experimental factor	vulvovaginitis
EFO:1001241	\N	\N	"An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" []	EFO:1001241	"An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" []	70828	\N	\N	EFO	0	EFO	Wernicke encephalopathy	Wernicke encephalopathy
EFO:0005774	EFO:1001241	\N	"A disease affecting the brain or part of the brain." []	EFO:1001241	"An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" []	213354	\N	\N	EFO	1	EFO	brain disease	Wernicke encephalopathy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001241	"An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" []	567168	\N	\N	EFO	2	EFO	nervous system disease	Wernicke encephalopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001241	"An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" []	1148600	\N	\N	EFO	3	EFO	disease	Wernicke encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001241	"An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" []	2030844	\N	\N	EFO	4	EFO	disposition	Wernicke encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001241	"An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" []	3181468	\N	\N	EFO	5	EFO	material property	Wernicke encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001241	"An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" []	4389825	\N	\N	EFO	6	EFO	experimental factor	Wernicke encephalopathy
EFO:1001242	\N	\N	"An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	EFO:1001242	"An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	70829	\N	\N	EFO	0	EFO	Wernicke-Korsakoff syndrome	Wernicke-Korsakoff syndrome
EFO:0001069	EFO:1001242	\N	"Any condition related to a disturbance between proper intake and utilization of nourishment." []	EFO:1001242	"An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	213355	\N	\N	EFO	1	EFO	nutritional disorder	Wernicke-Korsakoff syndrome
EFO:0000589	EFO:0001069	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001242	"An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	567169	\N	\N	EFO	2	EFO	metabolic disease	Wernicke-Korsakoff syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001242	"An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	1148601	\N	\N	EFO	3	EFO	disease	Wernicke-Korsakoff syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001242	"An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	2030845	\N	\N	EFO	4	EFO	disposition	Wernicke-Korsakoff syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001242	"An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	3181469	\N	\N	EFO	5	EFO	material property	Wernicke-Korsakoff syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001242	"An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	4389826	\N	\N	EFO	6	EFO	experimental factor	Wernicke-Korsakoff syndrome
EFO:1001243	\N	\N	"Allergic reaction to wheat that is triggered by the immune system." []	EFO:1001243	"Allergic reaction to wheat that is triggered by the immune system." []	70830	\N	\N	EFO	0	EFO	wheat allergic reaction	wheat allergic reaction
EFO:1001890	EFO:1001243	\N	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	EFO:1001243	"Allergic reaction to wheat that is triggered by the immune system." []	213356	\N	\N	EFO	1	EFO	food allergy	wheat allergic reaction
EFO:0003785	EFO:1001890	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1001243	"Allergic reaction to wheat that is triggered by the immune system." []	567170	\N	\N	EFO	2	EFO	allergy	wheat allergic reaction
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001243	"Allergic reaction to wheat that is triggered by the immune system." []	1148602	\N	\N	EFO	3	EFO	immune system disease	wheat allergic reaction
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001243	"Allergic reaction to wheat that is triggered by the immune system." []	2030846	\N	\N	EFO	4	EFO	disease	wheat allergic reaction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001243	"Allergic reaction to wheat that is triggered by the immune system." []	3181470	\N	\N	EFO	5	EFO	disposition	wheat allergic reaction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001243	"Allergic reaction to wheat that is triggered by the immune system." []	4389827	\N	\N	EFO	6	EFO	material property	wheat allergic reaction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001243	"Allergic reaction to wheat that is triggered by the immune system." []	5409464	\N	\N	EFO	7	EFO	experimental factor	wheat allergic reaction
EFO:1001244	\N	\N	"A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." []	EFO:1001244	"A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." []	70831	\N	\N	EFO	0	EFO	xanthogranulomatous pyelonephritis	xanthogranulomatous pyelonephritis
EFO:1001141	EFO:1001244	\N	"Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA." []	EFO:1001244	"A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." []	213357	\N	\N	EFO	1	EFO	pyelonephritis	xanthogranulomatous pyelonephritis
EFO:0003086	EFO:1001141	\N	"A disease affecting the kidneys" []	EFO:1001244	"A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." []	567171	\N	\N	EFO	2	EFO	kidney disease	xanthogranulomatous pyelonephritis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001244	"A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." []	1148603	\N	\N	EFO	3	EFO	disease	xanthogranulomatous pyelonephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001244	"A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." []	2030847	\N	\N	EFO	4	EFO	disposition	xanthogranulomatous pyelonephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001244	"A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." []	3181471	\N	\N	EFO	5	EFO	material property	xanthogranulomatous pyelonephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001244	"A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." []	4389828	\N	\N	EFO	6	EFO	experimental factor	xanthogranulomatous pyelonephritis
EFO:1001245	\N	\N	"Infections with bacteria of the genus YERSINIA." []	EFO:1001245	"Infections with bacteria of the genus YERSINIA." []	70832	\N	\N	EFO	0	EFO	Yersinia infectious disease	Yersinia infectious disease
EFO:0000771	EFO:1001245	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001245	"Infections with bacteria of the genus YERSINIA." []	213358	\N	\N	EFO	1	EFO	bacterial disease	Yersinia infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001245	"Infections with bacteria of the genus YERSINIA." []	567172	\N	\N	EFO	2	EFO	infectious disease	Yersinia infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001245	"Infections with bacteria of the genus YERSINIA." []	1148604	\N	\N	EFO	3	EFO	disease	Yersinia infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001245	"Infections with bacteria of the genus YERSINIA." []	2030848	\N	\N	EFO	4	EFO	disposition	Yersinia infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001245	"Infections with bacteria of the genus YERSINIA." []	3181472	\N	\N	EFO	5	EFO	material property	Yersinia infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001245	"Infections with bacteria of the genus YERSINIA." []	4389829	\N	\N	EFO	6	EFO	experimental factor	Yersinia infectious disease
EFO:1001246	\N	\N	"Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS." []	EFO:1001246	"Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS." []	70833	\N	\N	EFO	0	EFO	Yersinia pseudotuberculosis infectious disease	Yersinia pseudotuberculosis infectious disease
EFO:0000771	EFO:1001246	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001246	"Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS." []	213359	\N	\N	EFO	1	EFO	bacterial disease	Yersinia pseudotuberculosis infectious disease
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001246	"Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS." []	567173	\N	\N	EFO	2	EFO	infectious disease	Yersinia pseudotuberculosis infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001246	"Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS." []	1148605	\N	\N	EFO	3	EFO	disease	Yersinia pseudotuberculosis infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001246	"Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS." []	2030849	\N	\N	EFO	4	EFO	disposition	Yersinia pseudotuberculosis infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001246	"Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS." []	3181473	\N	\N	EFO	5	EFO	material property	Yersinia pseudotuberculosis infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001246	"Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS." []	4389830	\N	\N	EFO	6	EFO	experimental factor	Yersinia pseudotuberculosis infectious disease
EFO:1001247	\N	\N	"The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." []	EFO:1001247	"The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." []	70834	\N	\N	EFO	0	EFO	chancre	chancre
EFO:0007504	EFO:1001247	\N	"A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." []	EFO:1001247	"The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." []	213360	\N	\N	EFO	1	EFO	syphilis	chancre
EFO:0000771	EFO:0007504	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001247	"The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." []	567174	\N	\N	EFO	2	EFO	bacterial disease	chancre
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001247	"The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." []	1148606	\N	\N	EFO	3	EFO	infectious disease	chancre
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001247	"The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." []	2030850	\N	\N	EFO	4	EFO	disease	chancre
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001247	"The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." []	3181474	\N	\N	EFO	5	EFO	disposition	chancre
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001247	"The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." []	4389831	\N	\N	EFO	6	EFO	material property	chancre
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001247	"The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." []	5409465	\N	\N	EFO	7	EFO	experimental factor	chancre
EFO:1001248	\N	\N	"A benign form of fatty non-alcoholic fatty liver disease where the disease has not yet progressed to the inflammation of liver." []	EFO:1001248	"A benign form of fatty non-alcoholic fatty liver disease where the disease has not yet progressed to the inflammation of liver." []	70835	\N	\N	EFO	0	EFO	non-alcoholic fatty liver	non-alcoholic fatty liver
HP:0001397	\N	\N	"The presence of steatosis in the liver." [eMedicine:175472, HPO:probinson]	EFO:1001248	"A benign form of fatty non-alcoholic fatty liver disease where the disease has not yet progressed to the inflammation of liver." []	194952	\N	\N	EFO	0	EFO	Hepatic steatosis	non-alcoholic fatty liver
EFO:1001249	\N	\N	"A common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage." []	EFO:1001249	"A common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage." []	70836	\N	\N	EFO	0	EFO	non-alcoholic steatohepatitis	non-alcoholic steatohepatitis
EFO:0003095	EFO:1001249	\N	"A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." []	EFO:1001249	"A common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage." []	213361	\N	\N	EFO	1	EFO	non-alcoholic fatty liver disease	non-alcoholic steatohepatitis
EFO:0001421	EFO:0003095	\N	"Pathological processes of the LIVER." []	EFO:1001249	"A common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage." []	567175	\N	\N	EFO	2	EFO	liver disease	non-alcoholic steatohepatitis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001249	"A common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage." []	1148607	\N	\N	EFO	3	EFO	digestive system disease	non-alcoholic steatohepatitis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001249	"A common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage." []	1148608	\N	\N	EFO	3	EFO	endocrine system disease	non-alcoholic steatohepatitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001249	"A common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage." []	2030851	\N	\N	EFO	4	EFO	disease	non-alcoholic steatohepatitis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001249	"A common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage." []	2030852	\N	\N	EFO	4	EFO	disease	non-alcoholic steatohepatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001249	"A common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage." []	3181475	\N	\N	EFO	5	EFO	disposition	non-alcoholic steatohepatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001249	"A common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage." []	4389832	\N	\N	EFO	6	EFO	material property	non-alcoholic steatohepatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001249	"A common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage." []	5409466	\N	\N	EFO	7	EFO	experimental factor	non-alcoholic steatohepatitis
EFO:1001250	\N	\N	"Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." []	EFO:1001250	"Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." []	70837	\N	\N	EFO	0	EFO	rotator cuff tear	rotator cuff tear
EFO:0002970	EFO:1001250	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1001250	"Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." []	213362	\N	\N	EFO	1	EFO	muscular disease	rotator cuff tear
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1001250	"Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." []	567176	\N	\N	EFO	2	EFO	skeletal system disease	rotator cuff tear
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001250	"Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." []	1148609	\N	\N	EFO	3	EFO	disease	rotator cuff tear
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001250	"Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." []	2030853	\N	\N	EFO	4	EFO	disposition	rotator cuff tear
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001250	"Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." []	3181476	\N	\N	EFO	5	EFO	material property	rotator cuff tear
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001250	"Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." []	4389833	\N	\N	EFO	6	EFO	experimental factor	rotator cuff tear
EFO:1001252	\N	\N	"carcinoma of cardia of stomach" []	EFO:1001252	"carcinoma of cardia of stomach" []	70838	\N	\N	EFO	0	EFO	gastric cardia carcinoma	gastric cardia carcinoma
EFO:0000178	EFO:1001252	\N	"A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." []	EFO:1001252	"carcinoma of cardia of stomach" []	213363	\N	\N	EFO	1	EFO	gastric carcinoma	gastric cardia carcinoma
EFO:0000313	EFO:0000178	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001252	"carcinoma of cardia of stomach" []	567177	\N	\N	EFO	2	EFO	carcinoma	gastric cardia carcinoma
EFO:0003897	EFO:0000178	\N	"Tumors or cancer of the STOMACH." []	EFO:1001252	"carcinoma of cardia of stomach" []	567178	\N	\N	EFO	2	EFO	stomach neoplasm	gastric cardia carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001252	"carcinoma of cardia of stomach" []	1148610	\N	\N	EFO	3	EFO	cancer	gastric cardia carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001252	"carcinoma of cardia of stomach" []	1148611	\N	\N	EFO	3	EFO	epithelial neoplasm	gastric cardia carcinoma
EFO:0000405	EFO:0003897	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001252	"carcinoma of cardia of stomach" []	1148612	\N	\N	EFO	3	EFO	digestive system disease	gastric cardia carcinoma
EFO:0000616	EFO:0003897	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001252	"carcinoma of cardia of stomach" []	1148613	\N	\N	EFO	3	EFO	neoplasm	gastric cardia carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001252	"carcinoma of cardia of stomach" []	2030854	\N	\N	EFO	4	EFO	neoplasm	gastric cardia carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001252	"carcinoma of cardia of stomach" []	2030855	\N	\N	EFO	4	EFO	neoplasm	gastric cardia carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001252	"carcinoma of cardia of stomach" []	2030856	\N	\N	EFO	4	EFO	disease	gastric cardia carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001252	"carcinoma of cardia of stomach" []	3181477	\N	\N	EFO	5	EFO	disease	gastric cardia carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001252	"carcinoma of cardia of stomach" []	4133109	\N	\N	EFO	6	EFO	disposition	gastric cardia carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001252	"carcinoma of cardia of stomach" []	5181342	\N	\N	EFO	7	EFO	material property	gastric cardia carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001252	"carcinoma of cardia of stomach" []	5996761	\N	\N	EFO	8	EFO	experimental factor	gastric cardia carcinoma
EFO:1001253	\N	\N	"A type of rash characterized by a flat, red area on the skin that is covered with small confluent bumps. It is common in several disesases and medical conditions includign scarlet fever, measles, rubella and Ebola, as well as a common manifestation of a skin reaction to a number of drugs including the antibiotic amoxicillin and the antiepileptic drug lamotrigine" []	EFO:1001253	"A type of rash characterized by a flat, red area on the skin that is covered with small confluent bumps. It is common in several disesases and medical conditions includign scarlet fever, measles, rubella and Ebola, as well as a common manifestation of a skin reaction to a number of drugs including the antibiotic amoxicillin and the antiepileptic drug lamotrigine" []	70839	\N	\N	EFO	0	EFO	maculopapular eruption	maculopapular eruption
EFO:0000701	EFO:1001253	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001253	"A type of rash characterized by a flat, red area on the skin that is covered with small confluent bumps. It is common in several disesases and medical conditions includign scarlet fever, measles, rubella and Ebola, as well as a common manifestation of a skin reaction to a number of drugs including the antibiotic amoxicillin and the antiepileptic drug lamotrigine" []	213364	\N	\N	EFO	1	EFO	skin disease	maculopapular eruption
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001253	"A type of rash characterized by a flat, red area on the skin that is covered with small confluent bumps. It is common in several disesases and medical conditions includign scarlet fever, measles, rubella and Ebola, as well as a common manifestation of a skin reaction to a number of drugs including the antibiotic amoxicillin and the antiepileptic drug lamotrigine" []	567179	\N	\N	EFO	2	EFO	disease	maculopapular eruption
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001253	"A type of rash characterized by a flat, red area on the skin that is covered with small confluent bumps. It is common in several disesases and medical conditions includign scarlet fever, measles, rubella and Ebola, as well as a common manifestation of a skin reaction to a number of drugs including the antibiotic amoxicillin and the antiepileptic drug lamotrigine" []	1148614	\N	\N	EFO	3	EFO	disposition	maculopapular eruption
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001253	"A type of rash characterized by a flat, red area on the skin that is covered with small confluent bumps. It is common in several disesases and medical conditions includign scarlet fever, measles, rubella and Ebola, as well as a common manifestation of a skin reaction to a number of drugs including the antibiotic amoxicillin and the antiepileptic drug lamotrigine" []	2030858	\N	\N	EFO	4	EFO	material property	maculopapular eruption
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001253	"A type of rash characterized by a flat, red area on the skin that is covered with small confluent bumps. It is common in several disesases and medical conditions includign scarlet fever, measles, rubella and Ebola, as well as a common manifestation of a skin reaction to a number of drugs including the antibiotic amoxicillin and the antiepileptic drug lamotrigine" []	3181479	\N	\N	EFO	5	EFO	experimental factor	maculopapular eruption
EFO:1001254	\N	\N	"temporary or permanent damage to hearing caused by prolonged exposure to loud noise, for example in an occupational setting. NIHL is the most common and significant occupational health issue, affecting 16% of the population worldwide" []	EFO:1001254	"temporary or permanent damage to hearing caused by prolonged exposure to loud noise, for example in an occupational setting. NIHL is the most common and significant occupational health issue, affecting 16% of the population worldwide" []	70840	\N	\N	EFO	0	EFO	noise-induced hearing loss	noise-induced hearing loss
EFO:0004238	EFO:1001254	\N	"A general term for the complete or partial loss of the ability to hear from one or both ears." []	EFO:1001254	"temporary or permanent damage to hearing caused by prolonged exposure to loud noise, for example in an occupational setting. NIHL is the most common and significant occupational health issue, affecting 16% of the population worldwide" []	213365	\N	\N	EFO	1	EFO	hearing loss	noise-induced hearing loss
EFO:1001455	EFO:0004238	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:1001254	"temporary or permanent damage to hearing caused by prolonged exposure to loud noise, for example in an occupational setting. NIHL is the most common and significant occupational health issue, affecting 16% of the population worldwide" []	567180	\N	\N	EFO	2	EFO	auditory system disease	noise-induced hearing loss
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1001254	"temporary or permanent damage to hearing caused by prolonged exposure to loud noise, for example in an occupational setting. NIHL is the most common and significant occupational health issue, affecting 16% of the population worldwide" []	1148615	\N	\N	EFO	3	EFO	sensory system disease	noise-induced hearing loss
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001254	"temporary or permanent damage to hearing caused by prolonged exposure to loud noise, for example in an occupational setting. NIHL is the most common and significant occupational health issue, affecting 16% of the population worldwide" []	2030859	\N	\N	EFO	4	EFO	nervous system disease	noise-induced hearing loss
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001254	"temporary or permanent damage to hearing caused by prolonged exposure to loud noise, for example in an occupational setting. NIHL is the most common and significant occupational health issue, affecting 16% of the population worldwide" []	3181480	\N	\N	EFO	5	EFO	disease	noise-induced hearing loss
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001254	"temporary or permanent damage to hearing caused by prolonged exposure to loud noise, for example in an occupational setting. NIHL is the most common and significant occupational health issue, affecting 16% of the population worldwide" []	4389835	\N	\N	EFO	6	EFO	disposition	noise-induced hearing loss
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001254	"temporary or permanent damage to hearing caused by prolonged exposure to loud noise, for example in an occupational setting. NIHL is the most common and significant occupational health issue, affecting 16% of the population worldwide" []	5409468	\N	\N	EFO	7	EFO	material property	noise-induced hearing loss
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001254	"temporary or permanent damage to hearing caused by prolonged exposure to loud noise, for example in an occupational setting. NIHL is the most common and significant occupational health issue, affecting 16% of the population worldwide" []	6147660	\N	\N	EFO	8	EFO	experimental factor	noise-induced hearing loss
EFO:1001255	\N	\N	"Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference." []	EFO:1001255	"Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference." []	70841	\N	\N	EFO	0	EFO	spontaneous abortion {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	spontaneous abortion {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:1001491	EFO:1001255	\N	"the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus." []	EFO:1001255	"Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference." []	213366	\N	\N	EFO	1	EFO	abortion	spontaneous abortion {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000512	EFO:1001491	\N	"any diease of the reproductive system" []	EFO:1001255	"Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference." []	567181	\N	\N	EFO	2	EFO	reproductive system disease	spontaneous abortion {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001255	"Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference." []	1148616	\N	\N	EFO	3	EFO	disease	spontaneous abortion {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001255	"Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference." []	2030860	\N	\N	EFO	4	EFO	disposition	spontaneous abortion {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001255	"Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference." []	3181481	\N	\N	EFO	5	EFO	material property	spontaneous abortion {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001255	"Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference." []	4389836	\N	\N	EFO	6	EFO	experimental factor	spontaneous abortion {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:1001256	\N	\N	"Symptom complex due to ACTH production by non-pituitary neoplasms." []	EFO:1001256	"Symptom complex due to ACTH production by non-pituitary neoplasms." []	70842	\N	\N	EFO	0	EFO	ACTH Syndrome, Ectopic	ACTH Syndrome, Ectopic
EFO:0003769	EFO:1001256	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001256	"Symptom complex due to ACTH production by non-pituitary neoplasms." []	213367	\N	\N	EFO	1	EFO	endocrine neoplasm	ACTH Syndrome, Ectopic
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001256	"Symptom complex due to ACTH production by non-pituitary neoplasms." []	567182	\N	\N	EFO	2	EFO	neoplasm	ACTH Syndrome, Ectopic
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001256	"Symptom complex due to ACTH production by non-pituitary neoplasms." []	567183	\N	\N	EFO	2	EFO	endocrine system disease	ACTH Syndrome, Ectopic
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001256	"Symptom complex due to ACTH production by non-pituitary neoplasms." []	1148617	\N	\N	EFO	3	EFO	disease	ACTH Syndrome, Ectopic
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001256	"Symptom complex due to ACTH production by non-pituitary neoplasms." []	1148618	\N	\N	EFO	3	EFO	disease	ACTH Syndrome, Ectopic
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001256	"Symptom complex due to ACTH production by non-pituitary neoplasms." []	2030861	\N	\N	EFO	4	EFO	disposition	ACTH Syndrome, Ectopic
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001256	"Symptom complex due to ACTH production by non-pituitary neoplasms." []	3181482	\N	\N	EFO	5	EFO	material property	ACTH Syndrome, Ectopic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001256	"Symptom complex due to ACTH production by non-pituitary neoplasms." []	4389837	\N	\N	EFO	6	EFO	experimental factor	ACTH Syndrome, Ectopic
EFO:1001257	\N	\N	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	70843	\N	\N	EFO	0	EFO	acute erythroblastic leukemia	acute erythroblastic leukemia
EFO:0000222	EFO:1001257	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	213368	\N	\N	EFO	1	EFO	acute myeloid leukemia	acute erythroblastic leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	567184	\N	\N	EFO	2	EFO	myeloid neoplasm	acute erythroblastic leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	567185	\N	\N	EFO	2	EFO	Acute Leukemia	acute erythroblastic leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	1148619	\N	\N	EFO	3	EFO	lymphoid neoplasm	acute erythroblastic leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	1148620	\N	\N	EFO	3	EFO	leukemia	acute erythroblastic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	3181485	\N	\N	EFO	5	EFO	cancer	acute erythroblastic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	3181486	\N	\N	EFO	5	EFO	hematological system disease	acute erythroblastic leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	2030864	\N	\N	EFO	4	EFO	lymphoid neoplasm	acute erythroblastic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	4133110	\N	\N	EFO	6	EFO	neoplasm	acute erythroblastic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	4133111	\N	\N	EFO	6	EFO	disease	acute erythroblastic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	5181343	\N	\N	EFO	7	EFO	disease	acute erythroblastic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	5996762	\N	\N	EFO	8	EFO	disposition	acute erythroblastic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	6469874	\N	\N	EFO	9	EFO	material property	acute erythroblastic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001257	"A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood." []	6848225	\N	\N	EFO	10	EFO	experimental factor	acute erythroblastic leukemia
EFO:1001258	\N	\N	"A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)" []	EFO:1001258	"A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)" []	70844	\N	\N	EFO	0	EFO	Adenomatosis, Pulmonary	Adenomatosis, Pulmonary
EFO:0000616	EFO:1001258	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001258	"A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)" []	213369	\N	\N	EFO	1	EFO	neoplasm	Adenomatosis, Pulmonary
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001258	"A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)" []	567186	\N	\N	EFO	2	EFO	disease	Adenomatosis, Pulmonary
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001258	"A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)" []	1148621	\N	\N	EFO	3	EFO	disposition	Adenomatosis, Pulmonary
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001258	"A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)" []	2030865	\N	\N	EFO	4	EFO	material property	Adenomatosis, Pulmonary
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001258	"A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)" []	3181487	\N	\N	EFO	5	EFO	experimental factor	Adenomatosis, Pulmonary
EFO:1001259	\N	\N	"Virus diseases caused by the ADENOVIRIDAE." []	EFO:1001259	"Virus diseases caused by the ADENOVIRIDAE." []	70845	\N	\N	EFO	0	EFO	Adenoviridae Infections	Adenoviridae Infections
EFO:0000763	EFO:1001259	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001259	"Virus diseases caused by the ADENOVIRIDAE." []	213370	\N	\N	EFO	1	EFO	viral disease	Adenoviridae Infections
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001259	"Virus diseases caused by the ADENOVIRIDAE." []	567187	\N	\N	EFO	2	EFO	infectious disease	Adenoviridae Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001259	"Virus diseases caused by the ADENOVIRIDAE." []	1148622	\N	\N	EFO	3	EFO	disease	Adenoviridae Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001259	"Virus diseases caused by the ADENOVIRIDAE." []	2030866	\N	\N	EFO	4	EFO	disposition	Adenoviridae Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001259	"Virus diseases caused by the ADENOVIRIDAE." []	3181488	\N	\N	EFO	5	EFO	material property	Adenoviridae Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001259	"Virus diseases caused by the ADENOVIRIDAE." []	4389840	\N	\N	EFO	6	EFO	experimental factor	Adenoviridae Infections
EFO:1001260	\N	\N	"A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." []	EFO:1001260	"A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." []	70846	\N	\N	EFO	0	EFO	alcoholic psychosis	alcoholic psychosis
EFO:0005407	EFO:1001260	\N	"A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor." []	EFO:1001260	"A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." []	213371	\N	\N	EFO	1	EFO	psychosis	alcoholic psychosis
EFO:0000677	EFO:0005407	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001260	"A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." []	567188	\N	\N	EFO	2	EFO	mental or behavioural disorder	alcoholic psychosis
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001260	"A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." []	1148623	\N	\N	EFO	3	EFO	brain disease	alcoholic psychosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001260	"A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." []	2030867	\N	\N	EFO	4	EFO	nervous system disease	alcoholic psychosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001260	"A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." []	3181489	\N	\N	EFO	5	EFO	disease	alcoholic psychosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001260	"A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." []	4389841	\N	\N	EFO	6	EFO	disposition	alcoholic psychosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001260	"A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." []	5409470	\N	\N	EFO	7	EFO	material property	alcoholic psychosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001260	"A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." []	6147662	\N	\N	EFO	8	EFO	experimental factor	alcoholic psychosis
EFO:1001261	\N	\N	"An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex, stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration)." []	EFO:1001261	"An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex, stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration)." []	70847	\N	\N	EFO	0	EFO	Alien Hand Syndrome	Alien Hand Syndrome
EFO:0000618	EFO:1001261	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001261	"An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex, stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration)." []	213372	\N	\N	EFO	1	EFO	nervous system disease	Alien Hand Syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001261	"An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex, stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration)." []	567189	\N	\N	EFO	2	EFO	disease	Alien Hand Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001261	"An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex, stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration)." []	1148624	\N	\N	EFO	3	EFO	disposition	Alien Hand Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001261	"An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex, stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration)." []	2030868	\N	\N	EFO	4	EFO	material property	Alien Hand Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001261	"An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex, stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration)." []	3181490	\N	\N	EFO	5	EFO	experimental factor	Alien Hand Syndrome
EFO:1001262	\N	\N	"Opportunistic fungal infection by a member of ALTERNARIA genus." []	EFO:1001262	"Opportunistic fungal infection by a member of ALTERNARIA genus." []	70848	\N	\N	EFO	0	EFO	Alternariosis	Alternariosis
EFO:0000701	EFO:1001262	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001262	"Opportunistic fungal infection by a member of ALTERNARIA genus." []	213373	\N	\N	EFO	1	EFO	skin disease	Alternariosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001262	"Opportunistic fungal infection by a member of ALTERNARIA genus." []	567190	\N	\N	EFO	2	EFO	disease	Alternariosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001262	"Opportunistic fungal infection by a member of ALTERNARIA genus." []	1148625	\N	\N	EFO	3	EFO	disposition	Alternariosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001262	"Opportunistic fungal infection by a member of ALTERNARIA genus." []	2030869	\N	\N	EFO	4	EFO	material property	Alternariosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001262	"Opportunistic fungal infection by a member of ALTERNARIA genus." []	3181491	\N	\N	EFO	5	EFO	experimental factor	Alternariosis
EFO:1001263	\N	\N	"Blocking of maternal circulation by AMNIOTIC FLUID that is forced into uterine VEINS by strong UTERINE CONTRACTION near the end of pregnancy. It is characterized by the sudden onset of severe respiratory distress and HYPOTENSION that can lead to maternal DEATH." []	EFO:1001263	"Blocking of maternal circulation by AMNIOTIC FLUID that is forced into uterine VEINS by strong UTERINE CONTRACTION near the end of pregnancy. It is characterized by the sudden onset of severe respiratory distress and HYPOTENSION that can lead to maternal DEATH." []	70849	\N	\N	EFO	0	EFO	amniotic fluid embolism {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	amniotic fluid embolism {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000319	EFO:1001263	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001263	"Blocking of maternal circulation by AMNIOTIC FLUID that is forced into uterine VEINS by strong UTERINE CONTRACTION near the end of pregnancy. It is characterized by the sudden onset of severe respiratory distress and HYPOTENSION that can lead to maternal DEATH." []	213374	\N	\N	EFO	1	EFO	cardiovascular disease	amniotic fluid embolism {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001263	"Blocking of maternal circulation by AMNIOTIC FLUID that is forced into uterine VEINS by strong UTERINE CONTRACTION near the end of pregnancy. It is characterized by the sudden onset of severe respiratory distress and HYPOTENSION that can lead to maternal DEATH." []	567191	\N	\N	EFO	2	EFO	disease	amniotic fluid embolism {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001263	"Blocking of maternal circulation by AMNIOTIC FLUID that is forced into uterine VEINS by strong UTERINE CONTRACTION near the end of pregnancy. It is characterized by the sudden onset of severe respiratory distress and HYPOTENSION that can lead to maternal DEATH." []	1148626	\N	\N	EFO	3	EFO	disposition	amniotic fluid embolism {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001263	"Blocking of maternal circulation by AMNIOTIC FLUID that is forced into uterine VEINS by strong UTERINE CONTRACTION near the end of pregnancy. It is characterized by the sudden onset of severe respiratory distress and HYPOTENSION that can lead to maternal DEATH." []	2030870	\N	\N	EFO	4	EFO	material property	amniotic fluid embolism {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001263	"Blocking of maternal circulation by AMNIOTIC FLUID that is forced into uterine VEINS by strong UTERINE CONTRACTION near the end of pregnancy. It is characterized by the sudden onset of severe respiratory distress and HYPOTENSION that can lead to maternal DEATH." []	3181492	\N	\N	EFO	5	EFO	experimental factor	amniotic fluid embolism {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:1001264	\N	\N	"Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS." []	EFO:1001264	"Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS." []	70850	\N	\N	EFO	0	EFO	Anemia, Hemolytic, Autoimmune	Anemia, Hemolytic, Autoimmune
EFO:0000540	EFO:1001264	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001264	"Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS." []	213375	\N	\N	EFO	1	EFO	immune system disease	Anemia, Hemolytic, Autoimmune
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001264	"Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS." []	567192	\N	\N	EFO	2	EFO	disease	Anemia, Hemolytic, Autoimmune
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001264	"Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS." []	1148627	\N	\N	EFO	3	EFO	disposition	Anemia, Hemolytic, Autoimmune
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001264	"Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS." []	2030871	\N	\N	EFO	4	EFO	material property	Anemia, Hemolytic, Autoimmune
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001264	"Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS." []	3181493	\N	\N	EFO	5	EFO	experimental factor	Anemia, Hemolytic, Autoimmune
EFO:1001265	\N	\N	"Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue." []	EFO:1001265	"Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue." []	70851	\N	\N	EFO	0	EFO	Aneurysm, False	Aneurysm, False
EFO:0004264	EFO:1001265	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001265	"Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue." []	213376	\N	\N	EFO	1	EFO	vascular disease	Aneurysm, False
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001265	"Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue." []	567193	\N	\N	EFO	2	EFO	cardiovascular disease	Aneurysm, False
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001265	"Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue." []	1148628	\N	\N	EFO	3	EFO	disease	Aneurysm, False
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001265	"Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue." []	2030872	\N	\N	EFO	4	EFO	disposition	Aneurysm, False
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001265	"Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue." []	3181494	\N	\N	EFO	5	EFO	material property	Aneurysm, False
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001265	"Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue." []	4389842	\N	\N	EFO	6	EFO	experimental factor	Aneurysm, False
EFO:1001266	\N	\N	"A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." []	EFO:1001266	"A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." []	70852	\N	\N	EFO	0	EFO	Aniseikonia	Aniseikonia
EFO:0003966	EFO:1001266	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001266	"A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." []	213377	\N	\N	EFO	1	EFO	eye disease	Aniseikonia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001266	"A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." []	567194	\N	\N	EFO	2	EFO	disease	Aniseikonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001266	"A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." []	1148629	\N	\N	EFO	3	EFO	disposition	Aniseikonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001266	"A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." []	2030873	\N	\N	EFO	4	EFO	material property	Aniseikonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001266	"A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." []	3181495	\N	\N	EFO	5	EFO	experimental factor	Aniseikonia
EFO:1001267	\N	\N	"A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion." []	EFO:1001267	"A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion." []	70853	\N	\N	EFO	0	EFO	Aortic Coarctation	Aortic Coarctation
EFO:0005775	EFO:1001267	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:1001267	"A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion." []	213378	\N	\N	EFO	1	EFO	aortic disease	Aortic Coarctation
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001267	"A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion." []	567195	\N	\N	EFO	2	EFO	vascular disease	Aortic Coarctation
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001267	"A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion." []	1148630	\N	\N	EFO	3	EFO	cardiovascular disease	Aortic Coarctation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001267	"A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion." []	2030874	\N	\N	EFO	4	EFO	disease	Aortic Coarctation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001267	"A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion." []	3181496	\N	\N	EFO	5	EFO	disposition	Aortic Coarctation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001267	"A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion." []	4389843	\N	\N	EFO	6	EFO	material property	Aortic Coarctation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001267	"A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion." []	5409471	\N	\N	EFO	7	EFO	experimental factor	Aortic Coarctation
EFO:1001268	\N	\N	"The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA." []	EFO:1001268	"The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA." []	70854	\N	\N	EFO	0	EFO	Aortic Rupture	Aortic Rupture
EFO:0005775	EFO:1001268	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	EFO:1001268	"The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA." []	213379	\N	\N	EFO	1	EFO	aortic disease	Aortic Rupture
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001268	"The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA." []	567196	\N	\N	EFO	2	EFO	vascular disease	Aortic Rupture
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001268	"The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA." []	1148631	\N	\N	EFO	3	EFO	cardiovascular disease	Aortic Rupture
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001268	"The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA." []	2030875	\N	\N	EFO	4	EFO	disease	Aortic Rupture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001268	"The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA." []	3181497	\N	\N	EFO	5	EFO	disposition	Aortic Rupture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001268	"The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA." []	4389844	\N	\N	EFO	6	EFO	material property	Aortic Rupture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001268	"The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA." []	5409472	\N	\N	EFO	7	EFO	experimental factor	Aortic Rupture
EFO:1001269	\N	\N	"Infections caused by arthropod-borne viruses, general or unspecified." []	EFO:1001269	"Infections caused by arthropod-borne viruses, general or unspecified." []	70855	\N	\N	EFO	0	EFO	Arbovirus Infections	Arbovirus Infections
EFO:0000763	EFO:1001269	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001269	"Infections caused by arthropod-borne viruses, general or unspecified." []	213380	\N	\N	EFO	1	EFO	viral disease	Arbovirus Infections
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001269	"Infections caused by arthropod-borne viruses, general or unspecified." []	567197	\N	\N	EFO	2	EFO	infectious disease	Arbovirus Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001269	"Infections caused by arthropod-borne viruses, general or unspecified." []	1148632	\N	\N	EFO	3	EFO	disease	Arbovirus Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001269	"Infections caused by arthropod-borne viruses, general or unspecified." []	2030876	\N	\N	EFO	4	EFO	disposition	Arbovirus Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001269	"Infections caused by arthropod-borne viruses, general or unspecified." []	3181498	\N	\N	EFO	5	EFO	material property	Arbovirus Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001269	"Infections caused by arthropod-borne viruses, general or unspecified." []	4389845	\N	\N	EFO	6	EFO	experimental factor	Arbovirus Infections
EFO:1001270	\N	\N	"Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality." []	EFO:1001270	"Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality." []	70856	\N	\N	EFO	0	EFO	Arterio-Arterial Fistula	Arterio-Arterial Fistula
EFO:0004264	EFO:1001270	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001270	"Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality." []	213381	\N	\N	EFO	1	EFO	vascular disease	Arterio-Arterial Fistula
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001270	"Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality." []	567198	\N	\N	EFO	2	EFO	cardiovascular disease	Arterio-Arterial Fistula
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001270	"Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality." []	1148633	\N	\N	EFO	3	EFO	disease	Arterio-Arterial Fistula
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001270	"Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality." []	2030877	\N	\N	EFO	4	EFO	disposition	Arterio-Arterial Fistula
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001270	"Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality." []	3181499	\N	\N	EFO	5	EFO	material property	Arterio-Arterial Fistula
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001270	"Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality." []	4389846	\N	\N	EFO	6	EFO	experimental factor	Arterio-Arterial Fistula
EFO:1001271	\N	\N	"Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at MENOPAUSE." []	EFO:1001271	"Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at MENOPAUSE." []	70857	\N	\N	EFO	0	EFO	Atrophic Vaginitis	Atrophic Vaginitis
EFO:0005757	EFO:1001271	\N	"local accumulation of fluid, plasma proteins, and leukocytes in the vagina" []	EFO:1001271	"Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at MENOPAUSE." []	213382	\N	\N	EFO	1	EFO	vaginal inflammation	Atrophic Vaginitis
MP:0001845	EFO:0005757	\N	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	EFO:1001271	"Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at MENOPAUSE." []	567199	\N	\N	EFO	2	EFO	inflammation	Atrophic Vaginitis
EFO:1001272	\N	\N	"Inflammation of the lung parenchyma that is caused by bacterial infections." []	EFO:1001272	"Inflammation of the lung parenchyma that is caused by bacterial infections." []	70858	\N	\N	EFO	0	EFO	bacterial pneumonia	bacterial pneumonia
EFO:0003106	EFO:1001272	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:1001272	"Inflammation of the lung parenchyma that is caused by bacterial infections." []	213383	\N	\N	EFO	1	EFO	pneumonia	bacterial pneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001272	"Inflammation of the lung parenchyma that is caused by bacterial infections." []	567200	\N	\N	EFO	2	EFO	lung disease	bacterial pneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001272	"Inflammation of the lung parenchyma that is caused by bacterial infections." []	567201	\N	\N	EFO	2	EFO	infectious disease	bacterial pneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001272	"Inflammation of the lung parenchyma that is caused by bacterial infections." []	1148634	\N	\N	EFO	3	EFO	respiratory system disease	bacterial pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001272	"Inflammation of the lung parenchyma that is caused by bacterial infections." []	1148635	\N	\N	EFO	3	EFO	disease	bacterial pneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001272	"Inflammation of the lung parenchyma that is caused by bacterial infections." []	2030878	\N	\N	EFO	4	EFO	disease	bacterial pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001272	"Inflammation of the lung parenchyma that is caused by bacterial infections." []	3181500	\N	\N	EFO	5	EFO	disposition	bacterial pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001272	"Inflammation of the lung parenchyma that is caused by bacterial infections." []	4133112	\N	\N	EFO	6	EFO	material property	bacterial pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001272	"Inflammation of the lung parenchyma that is caused by bacterial infections." []	5181345	\N	\N	EFO	7	EFO	experimental factor	bacterial pneumonia
EFO:1001273	\N	\N	"Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein)." []	EFO:1001273	"Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein)." []	70859	\N	\N	EFO	0	EFO	Birt-Hogg-Dube Syndrome	Birt-Hogg-Dube Syndrome
EFO:0000616	EFO:1001273	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001273	"Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein)." []	213384	\N	\N	EFO	1	EFO	neoplasm	Birt-Hogg-Dube Syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001273	"Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein)." []	567202	\N	\N	EFO	2	EFO	disease	Birt-Hogg-Dube Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001273	"Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein)." []	1148636	\N	\N	EFO	3	EFO	disposition	Birt-Hogg-Dube Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001273	"Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein)." []	2030880	\N	\N	EFO	4	EFO	material property	Birt-Hogg-Dube Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001273	"Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein)." []	3181502	\N	\N	EFO	5	EFO	experimental factor	Birt-Hogg-Dube Syndrome
EFO:1001274	\N	\N	"Malalignment of a bone in which its head and neck is rotated excessively forward or inward." []	EFO:1001274	"Malalignment of a bone in which its head and neck is rotated excessively forward or inward." []	70860	\N	\N	EFO	0	EFO	Bone Anteversion	Bone Anteversion
HP:0000924	\N	\N	"An abnormality of the skeletal system." [HPO:probinson]	EFO:1001274	"Malalignment of a bone in which its head and neck is rotated excessively forward or inward." []	194953	\N	\N	EFO	0	EFO	Abnormality of the skeletal system	Bone Anteversion
EFO:1001275	\N	\N	"Infections with bacteria of the genus BORDETELLA." []	EFO:1001275	"Infections with bacteria of the genus BORDETELLA." []	70861	\N	\N	EFO	0	EFO	Bordetella Infections	Bordetella Infections
EFO:0000771	EFO:1001275	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001275	"Infections with bacteria of the genus BORDETELLA." []	213385	\N	\N	EFO	1	EFO	bacterial disease	Bordetella Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001275	"Infections with bacteria of the genus BORDETELLA." []	567203	\N	\N	EFO	2	EFO	infectious disease	Bordetella Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001275	"Infections with bacteria of the genus BORDETELLA." []	1148637	\N	\N	EFO	3	EFO	disease	Bordetella Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001275	"Infections with bacteria of the genus BORDETELLA." []	2030881	\N	\N	EFO	4	EFO	disposition	Bordetella Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001275	"Infections with bacteria of the genus BORDETELLA." []	3181503	\N	\N	EFO	5	EFO	material property	Bordetella Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001275	"Infections with bacteria of the genus BORDETELLA." []	4389848	\N	\N	EFO	6	EFO	experimental factor	Bordetella Infections
EFO:1001276	\N	\N	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	EFO:1001276	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	70862	\N	\N	EFO	0	EFO	Brain Stem Hemorrhage, Traumatic	Brain Stem Hemorrhage, Traumatic
EFO:0000551	EFO:1001276	\N	"Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." []	EFO:1001276	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	213386	\N	\N	EFO	1	EFO	intracranial hemorrhage NOS	Brain Stem Hemorrhage, Traumatic
EFO:0005774	EFO:1001276	\N	"A disease affecting the brain or part of the brain." []	EFO:1001276	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	213387	\N	\N	EFO	1	EFO	brain disease	Brain Stem Hemorrhage, Traumatic
EFO:0003763	EFO:0000551	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1001276	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	567204	\N	\N	EFO	2	EFO	cerebrovascular disorder	Brain Stem Hemorrhage, Traumatic
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001276	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	567205	\N	\N	EFO	2	EFO	nervous system disease	Brain Stem Hemorrhage, Traumatic
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001276	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	1148638	\N	\N	EFO	3	EFO	vascular disease	Brain Stem Hemorrhage, Traumatic
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001276	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	1148639	\N	\N	EFO	3	EFO	disease	Brain Stem Hemorrhage, Traumatic
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001276	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	2030882	\N	\N	EFO	4	EFO	cardiovascular disease	Brain Stem Hemorrhage, Traumatic
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001276	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	4389849	\N	\N	EFO	6	EFO	disposition	Brain Stem Hemorrhage, Traumatic
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001276	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	3181504	\N	\N	EFO	5	EFO	disease	Brain Stem Hemorrhage, Traumatic
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001276	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	5059510	\N	\N	EFO	7	EFO	material property	Brain Stem Hemorrhage, Traumatic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001276	"Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." []	5876657	\N	\N	EFO	8	EFO	experimental factor	Brain Stem Hemorrhage, Traumatic
EFO:1001277	\N	\N	"A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)" []	EFO:1001277	"A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)" []	70863	\N	\N	EFO	0	EFO	Branchioma	Branchioma
EFO:0000311	EFO:1001277	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001277	"A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)" []	213388	\N	\N	EFO	1	EFO	cancer	Branchioma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001277	"A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)" []	567206	\N	\N	EFO	2	EFO	neoplasm	Branchioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001277	"A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)" []	1148640	\N	\N	EFO	3	EFO	disease	Branchioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001277	"A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)" []	2030884	\N	\N	EFO	4	EFO	disposition	Branchioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001277	"A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)" []	3181506	\N	\N	EFO	5	EFO	material property	Branchioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001277	"A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)" []	4389851	\N	\N	EFO	6	EFO	experimental factor	Branchioma
EFO:1001278	\N	\N	"" []	EFO:1001278	"" []	70864	\N	\N	EFO	0	EFO	Brown-Pearce carcinoma	Brown-Pearce carcinoma
EFO:0000313	EFO:1001278	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001278	"" []	213389	\N	\N	EFO	1	EFO	carcinoma	Brown-Pearce carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001278	"" []	567207	\N	\N	EFO	2	EFO	cancer	Brown-Pearce carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001278	"" []	567208	\N	\N	EFO	2	EFO	epithelial neoplasm	Brown-Pearce carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001278	"" []	1148641	\N	\N	EFO	3	EFO	neoplasm	Brown-Pearce carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001278	"" []	1148642	\N	\N	EFO	3	EFO	neoplasm	Brown-Pearce carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001278	"" []	2030885	\N	\N	EFO	4	EFO	disease	Brown-Pearce carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001278	"" []	3181507	\N	\N	EFO	5	EFO	disposition	Brown-Pearce carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001278	"" []	4389852	\N	\N	EFO	6	EFO	material property	Brown-Pearce carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001278	"" []	5409473	\N	\N	EFO	7	EFO	experimental factor	Brown-Pearce carcinoma
EFO:1001279	\N	\N	"A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)." []	EFO:1001279	"A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)." []	70865	\N	\N	EFO	0	EFO	Brown-Sequard Syndrome	Brown-Sequard Syndrome
EFO:0000618	EFO:1001279	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001279	"A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)." []	213390	\N	\N	EFO	1	EFO	nervous system disease	Brown-Sequard Syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001279	"A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)." []	567209	\N	\N	EFO	2	EFO	disease	Brown-Sequard Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001279	"A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)." []	1148643	\N	\N	EFO	3	EFO	disposition	Brown-Sequard Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001279	"A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)." []	2030886	\N	\N	EFO	4	EFO	material property	Brown-Sequard Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001279	"A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)." []	3181508	\N	\N	EFO	5	EFO	experimental factor	Brown-Sequard Syndrome
EFO:1001280	\N	\N	"Infections with bacteria of the genus BURKHOLDERIA." []	EFO:1001280	"Infections with bacteria of the genus BURKHOLDERIA." []	70866	\N	\N	EFO	0	EFO	Burkholderia Infections	Burkholderia Infections
EFO:0000771	EFO:1001280	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001280	"Infections with bacteria of the genus BURKHOLDERIA." []	213391	\N	\N	EFO	1	EFO	bacterial disease	Burkholderia Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001280	"Infections with bacteria of the genus BURKHOLDERIA." []	567210	\N	\N	EFO	2	EFO	infectious disease	Burkholderia Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001280	"Infections with bacteria of the genus BURKHOLDERIA." []	1148644	\N	\N	EFO	3	EFO	disease	Burkholderia Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001280	"Infections with bacteria of the genus BURKHOLDERIA." []	2030887	\N	\N	EFO	4	EFO	disposition	Burkholderia Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001280	"Infections with bacteria of the genus BURKHOLDERIA." []	3181509	\N	\N	EFO	5	EFO	material property	Burkholderia Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001280	"Infections with bacteria of the genus BURKHOLDERIA." []	4389853	\N	\N	EFO	6	EFO	experimental factor	Burkholderia Infections
EFO:1001281	\N	\N	"A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa." []	EFO:1001281	"A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa." []	70867	\N	\N	EFO	0	EFO	Buruli Ulcer	Buruli Ulcer
EFO:0000701	EFO:1001281	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001281	"A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa." []	213392	\N	\N	EFO	1	EFO	skin disease	Buruli Ulcer
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001281	"A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa." []	567211	\N	\N	EFO	2	EFO	disease	Buruli Ulcer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001281	"A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa." []	1148645	\N	\N	EFO	3	EFO	disposition	Buruli Ulcer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001281	"A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa." []	2030888	\N	\N	EFO	4	EFO	material property	Buruli Ulcer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001281	"A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa." []	3181510	\N	\N	EFO	5	EFO	experimental factor	Buruli Ulcer
EFO:1001282	\N	\N	"A form of invasive candidiasis where species of CANDIDA are present in the blood." []	EFO:1001282	"A form of invasive candidiasis where species of CANDIDA are present in the blood." []	70868	\N	\N	EFO	0	EFO	Candidemia	Candidemia
EFO:1001283	EFO:1001282	\N	"An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement." []	EFO:1001282	"A form of invasive candidiasis where species of CANDIDA are present in the blood." []	213393	\N	\N	EFO	1	EFO	Candidiasis, Invasive	Candidemia
EFO:0005741	EFO:1001283	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001282	"A form of invasive candidiasis where species of CANDIDA are present in the blood." []	567212	\N	\N	EFO	2	EFO	infectious disease	Candidemia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001282	"A form of invasive candidiasis where species of CANDIDA are present in the blood." []	1148646	\N	\N	EFO	3	EFO	disease	Candidemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001282	"A form of invasive candidiasis where species of CANDIDA are present in the blood." []	2030889	\N	\N	EFO	4	EFO	disposition	Candidemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001282	"A form of invasive candidiasis where species of CANDIDA are present in the blood." []	3181511	\N	\N	EFO	5	EFO	material property	Candidemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001282	"A form of invasive candidiasis where species of CANDIDA are present in the blood." []	4389854	\N	\N	EFO	6	EFO	experimental factor	Candidemia
EFO:1001283	\N	\N	"An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement." []	EFO:1001283	"An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement." []	70869	\N	\N	EFO	0	EFO	Candidiasis, Invasive	Candidiasis, Invasive
EFO:0005741	EFO:1001283	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001283	"An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement." []	213394	\N	\N	EFO	1	EFO	infectious disease	Candidiasis, Invasive
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001283	"An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement." []	567213	\N	\N	EFO	2	EFO	disease	Candidiasis, Invasive
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001283	"An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement." []	1148647	\N	\N	EFO	3	EFO	disposition	Candidiasis, Invasive
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001283	"An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement." []	2030890	\N	\N	EFO	4	EFO	material property	Candidiasis, Invasive
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001283	"An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement." []	3181512	\N	\N	EFO	5	EFO	experimental factor	Candidiasis, Invasive
EFO:1001284	\N	\N	"A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE." []	EFO:1001284	"A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE." []	70870	\N	\N	EFO	0	EFO	capillary leak syndrome	capillary leak syndrome
EFO:0004264	EFO:1001284	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001284	"A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE." []	213395	\N	\N	EFO	1	EFO	vascular disease	capillary leak syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001284	"A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE." []	567214	\N	\N	EFO	2	EFO	cardiovascular disease	capillary leak syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001284	"A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE." []	1148648	\N	\N	EFO	3	EFO	disease	capillary leak syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001284	"A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE." []	2030891	\N	\N	EFO	4	EFO	disposition	capillary leak syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001284	"A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE." []	3181513	\N	\N	EFO	5	EFO	material property	capillary leak syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001284	"A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE." []	4389855	\N	\N	EFO	6	EFO	experimental factor	capillary leak syndrome
EFO:1001285	\N	\N	"Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse." []	EFO:1001285	"Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse." []	70871	\N	\N	EFO	0	EFO	Cardiac Tamponade	Cardiac Tamponade
EFO:0003777	EFO:1001285	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001285	"Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse." []	213396	\N	\N	EFO	1	EFO	heart disease	Cardiac Tamponade
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001285	"Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse." []	567215	\N	\N	EFO	2	EFO	cardiovascular disease	Cardiac Tamponade
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001285	"Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse." []	1148649	\N	\N	EFO	3	EFO	disease	Cardiac Tamponade
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001285	"Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse." []	2030892	\N	\N	EFO	4	EFO	disposition	Cardiac Tamponade
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001285	"Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse." []	3181514	\N	\N	EFO	5	EFO	material property	Cardiac Tamponade
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001285	"Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse." []	4389856	\N	\N	EFO	6	EFO	experimental factor	Cardiac Tamponade
EFO:1001286	\N	\N	"Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease." []	EFO:1001286	"Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease." []	70872	\N	\N	EFO	0	EFO	Caroli Disease	Caroli Disease
EFO:0000508	EFO:1001286	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001286	"Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease." []	213397	\N	\N	EFO	1	EFO	genetic disorder	Caroli Disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001286	"Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease." []	567216	\N	\N	EFO	2	EFO	disease	Caroli Disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001286	"Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease." []	1148650	\N	\N	EFO	3	EFO	disposition	Caroli Disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001286	"Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease." []	2030893	\N	\N	EFO	4	EFO	material property	Caroli Disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001286	"Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease." []	3181515	\N	\N	EFO	5	EFO	experimental factor	Caroli Disease
EFO:1001287	\N	\N	"Infections with true tapeworms of the helminth subclass CESTODA." []	EFO:1001287	"Infections with true tapeworms of the helminth subclass CESTODA." []	70873	\N	\N	EFO	0	EFO	Cestode Infections	Cestode Infections
EFO:0001067	EFO:1001287	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001287	"Infections with true tapeworms of the helminth subclass CESTODA." []	213398	\N	\N	EFO	1	EFO	parasitic infection	Cestode Infections
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001287	"Infections with true tapeworms of the helminth subclass CESTODA." []	567217	\N	\N	EFO	2	EFO	infectious disease	Cestode Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001287	"Infections with true tapeworms of the helminth subclass CESTODA." []	1148651	\N	\N	EFO	3	EFO	disease	Cestode Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001287	"Infections with true tapeworms of the helminth subclass CESTODA." []	2030894	\N	\N	EFO	4	EFO	disposition	Cestode Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001287	"Infections with true tapeworms of the helminth subclass CESTODA." []	3181516	\N	\N	EFO	5	EFO	material property	Cestode Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001287	"Infections with true tapeworms of the helminth subclass CESTODA." []	4389857	\N	\N	EFO	6	EFO	experimental factor	Cestode Infections
EFO:1001288	\N	\N	"Infections with bacteria of the family CHLAMYDIACEAE." []	EFO:1001288	"Infections with bacteria of the family CHLAMYDIACEAE." []	70874	\N	\N	EFO	0	EFO	Chlamydiaceae Infections	Chlamydiaceae Infections
EFO:0000771	EFO:1001288	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001288	"Infections with bacteria of the family CHLAMYDIACEAE." []	213399	\N	\N	EFO	1	EFO	bacterial disease	Chlamydiaceae Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001288	"Infections with bacteria of the family CHLAMYDIACEAE." []	567218	\N	\N	EFO	2	EFO	infectious disease	Chlamydiaceae Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001288	"Infections with bacteria of the family CHLAMYDIACEAE." []	1148652	\N	\N	EFO	3	EFO	disease	Chlamydiaceae Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001288	"Infections with bacteria of the family CHLAMYDIACEAE." []	2030895	\N	\N	EFO	4	EFO	disposition	Chlamydiaceae Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001288	"Infections with bacteria of the family CHLAMYDIACEAE." []	3181517	\N	\N	EFO	5	EFO	material property	Chlamydiaceae Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001288	"Infections with bacteria of the family CHLAMYDIACEAE." []	4389858	\N	\N	EFO	6	EFO	experimental factor	Chlamydiaceae Infections
EFO:1001289	\N	\N	"Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." []	EFO:1001289	"Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." []	70875	\N	\N	EFO	0	EFO	Cholecystitis, Acute	Cholecystitis, Acute
EFO:0003832	EFO:1001289	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:1001289	"Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." []	213400	\N	\N	EFO	1	EFO	gallbladder disease	Cholecystitis, Acute
EFO:1000025	EFO:1001289	\N	"An acute or chronic inflammatory process affecting the bladder." []	EFO:1001289	"Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." []	213401	\N	\N	EFO	1	EFO	cystitis	Cholecystitis, Acute
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001289	"Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." []	567219	\N	\N	EFO	2	EFO	digestive system disease	Cholecystitis, Acute
EFO:1000018	EFO:1000025	\N	"A disorder affecting the urinary bladder" []	EFO:1001289	"Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." []	567220	\N	\N	EFO	2	EFO	bladder disease	Cholecystitis, Acute
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001289	"Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." []	1148653	\N	\N	EFO	3	EFO	disease	Cholecystitis, Acute
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001289	"Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." []	1148654	\N	\N	EFO	3	EFO	disease	Cholecystitis, Acute
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001289	"Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." []	2030896	\N	\N	EFO	4	EFO	disposition	Cholecystitis, Acute
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001289	"Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." []	3181518	\N	\N	EFO	5	EFO	material property	Cholecystitis, Acute
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001289	"Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." []	4389859	\N	\N	EFO	6	EFO	experimental factor	Cholecystitis, Acute
EFO:1001290	\N	\N	"A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" []	EFO:1001290	"A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" []	70876	\N	\N	EFO	0	EFO	chorea gravidarum	chorea gravidarum
EFO:0004280	EFO:1001290	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	EFO:1001290	"A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" []	213402	\N	\N	EFO	1	EFO	movement disorder	chorea gravidarum
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001290	"A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" []	567221	\N	\N	EFO	2	EFO	nervous system disease	chorea gravidarum
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001290	"A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" []	1148655	\N	\N	EFO	3	EFO	disease	chorea gravidarum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001290	"A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" []	2030897	\N	\N	EFO	4	EFO	disposition	chorea gravidarum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001290	"A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" []	3181519	\N	\N	EFO	5	EFO	material property	chorea gravidarum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001290	"A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" []	4389860	\N	\N	EFO	6	EFO	experimental factor	chorea gravidarum
EFO:1001291	\N	\N	"Poisoning caused by ingestion of SEAFOOD containing microgram levels of CIGUATOXINS. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." []	EFO:1001291	"Poisoning caused by ingestion of SEAFOOD containing microgram levels of CIGUATOXINS. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." []	70877	\N	\N	EFO	0	EFO	ciguatera poisoning	ciguatera poisoning
EFO:0000405	EFO:1001291	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001291	"Poisoning caused by ingestion of SEAFOOD containing microgram levels of CIGUATOXINS. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." []	213403	\N	\N	EFO	1	EFO	digestive system disease	ciguatera poisoning
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001291	"Poisoning caused by ingestion of SEAFOOD containing microgram levels of CIGUATOXINS. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." []	567222	\N	\N	EFO	2	EFO	disease	ciguatera poisoning
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001291	"Poisoning caused by ingestion of SEAFOOD containing microgram levels of CIGUATOXINS. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." []	1148656	\N	\N	EFO	3	EFO	disposition	ciguatera poisoning
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001291	"Poisoning caused by ingestion of SEAFOOD containing microgram levels of CIGUATOXINS. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." []	2030898	\N	\N	EFO	4	EFO	material property	ciguatera poisoning
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001291	"Poisoning caused by ingestion of SEAFOOD containing microgram levels of CIGUATOXINS. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." []	3181520	\N	\N	EFO	5	EFO	experimental factor	ciguatera poisoning
EFO:1001292	\N	\N	"Virus diseases caused by the CIRCOVIRIDAE." []	EFO:1001292	"Virus diseases caused by the CIRCOVIRIDAE." []	70878	\N	\N	EFO	0	EFO	Circoviridae Infections	Circoviridae Infections
EFO:0000763	EFO:1001292	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001292	"Virus diseases caused by the CIRCOVIRIDAE." []	213404	\N	\N	EFO	1	EFO	viral disease	Circoviridae Infections
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001292	"Virus diseases caused by the CIRCOVIRIDAE." []	567223	\N	\N	EFO	2	EFO	infectious disease	Circoviridae Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001292	"Virus diseases caused by the CIRCOVIRIDAE." []	1148657	\N	\N	EFO	3	EFO	disease	Circoviridae Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001292	"Virus diseases caused by the CIRCOVIRIDAE." []	2030899	\N	\N	EFO	4	EFO	disposition	Circoviridae Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001292	"Virus diseases caused by the CIRCOVIRIDAE." []	3181521	\N	\N	EFO	5	EFO	material property	Circoviridae Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001292	"Virus diseases caused by the CIRCOVIRIDAE." []	4389861	\N	\N	EFO	6	EFO	experimental factor	Circoviridae Infections
EFO:1001293	\N	\N	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN." []	EFO:1001293	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN." []	70879	\N	\N	EFO	0	EFO	collagenous colitis	collagenous colitis
EFO:1001295	EFO:1001293	\N	"A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." []	EFO:1001293	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN." []	213405	\N	\N	EFO	1	EFO	microscopic colitis	collagenous colitis
EFO:0003872	EFO:1001295	\N	"Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." []	EFO:1001293	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN." []	567224	\N	\N	EFO	2	EFO	colitis	collagenous colitis
EFO:0000405	EFO:0003872	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001293	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN." []	1148658	\N	\N	EFO	3	EFO	digestive system disease	collagenous colitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001293	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN." []	2030900	\N	\N	EFO	4	EFO	disease	collagenous colitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001293	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN." []	3181522	\N	\N	EFO	5	EFO	disposition	collagenous colitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001293	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN." []	4389862	\N	\N	EFO	6	EFO	material property	collagenous colitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001293	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN." []	5409474	\N	\N	EFO	7	EFO	experimental factor	collagenous colitis
EFO:1001294	\N	\N	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show infiltration of LYMPHOCYTES in the superficial EPITHELIUM and the underlying connective tissue (lamina propria)." []	EFO:1001294	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show infiltration of LYMPHOCYTES in the superficial EPITHELIUM and the underlying connective tissue (lamina propria)." []	70880	\N	\N	EFO	0	EFO	lymphocytic colitis	lymphocytic colitis
EFO:1001295	EFO:1001294	\N	"A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." []	EFO:1001294	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show infiltration of LYMPHOCYTES in the superficial EPITHELIUM and the underlying connective tissue (lamina propria)." []	213406	\N	\N	EFO	1	EFO	microscopic colitis	lymphocytic colitis
EFO:0003872	EFO:1001295	\N	"Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." []	EFO:1001294	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show infiltration of LYMPHOCYTES in the superficial EPITHELIUM and the underlying connective tissue (lamina propria)." []	567225	\N	\N	EFO	2	EFO	colitis	lymphocytic colitis
EFO:0000405	EFO:0003872	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001294	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show infiltration of LYMPHOCYTES in the superficial EPITHELIUM and the underlying connective tissue (lamina propria)." []	1148659	\N	\N	EFO	3	EFO	digestive system disease	lymphocytic colitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001294	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show infiltration of LYMPHOCYTES in the superficial EPITHELIUM and the underlying connective tissue (lamina propria)." []	2030901	\N	\N	EFO	4	EFO	disease	lymphocytic colitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001294	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show infiltration of LYMPHOCYTES in the superficial EPITHELIUM and the underlying connective tissue (lamina propria)." []	3181523	\N	\N	EFO	5	EFO	disposition	lymphocytic colitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001294	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show infiltration of LYMPHOCYTES in the superficial EPITHELIUM and the underlying connective tissue (lamina propria)." []	4389863	\N	\N	EFO	6	EFO	material property	lymphocytic colitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001294	"A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show infiltration of LYMPHOCYTES in the superficial EPITHELIUM and the underlying connective tissue (lamina propria)." []	5409475	\N	\N	EFO	7	EFO	experimental factor	lymphocytic colitis
EFO:1001295	\N	\N	"A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." []	EFO:1001295	"A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." []	70881	\N	\N	EFO	0	EFO	microscopic colitis	microscopic colitis
EFO:0003872	EFO:1001295	\N	"Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER." []	EFO:1001295	"A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." []	213407	\N	\N	EFO	1	EFO	colitis	microscopic colitis
EFO:0000405	EFO:0003872	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001295	"A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." []	567226	\N	\N	EFO	2	EFO	digestive system disease	microscopic colitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001295	"A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." []	1148660	\N	\N	EFO	3	EFO	disease	microscopic colitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001295	"A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." []	2030902	\N	\N	EFO	4	EFO	disposition	microscopic colitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001295	"A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." []	3181524	\N	\N	EFO	5	EFO	material property	microscopic colitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001295	"A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." []	4389864	\N	\N	EFO	6	EFO	experimental factor	microscopic colitis
EFO:1001296	\N	\N	"A pouch or sac opening from the COLON." []	EFO:1001296	"A pouch or sac opening from the COLON." []	70882	\N	\N	EFO	0	EFO	colon diverticulum	colon diverticulum
EFO:0000405	EFO:1001296	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001296	"A pouch or sac opening from the COLON." []	213408	\N	\N	EFO	1	EFO	digestive system disease	colon diverticulum
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001296	"A pouch or sac opening from the COLON." []	567227	\N	\N	EFO	2	EFO	disease	colon diverticulum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001296	"A pouch or sac opening from the COLON." []	1148661	\N	\N	EFO	3	EFO	disposition	colon diverticulum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001296	"A pouch or sac opening from the COLON." []	2030903	\N	\N	EFO	4	EFO	material property	colon diverticulum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001296	"A pouch or sac opening from the COLON." []	3181525	\N	\N	EFO	5	EFO	experimental factor	colon diverticulum
EFO:1001297	\N	\N	"A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." []	EFO:1001297	"A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." []	70883	\N	\N	EFO	0	EFO	Coronary-Subclavian Steal Syndrome	Coronary-Subclavian Steal Syndrome
EFO:0003777	EFO:1001297	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001297	"A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." []	213409	\N	\N	EFO	1	EFO	heart disease	Coronary-Subclavian Steal Syndrome
EFO:0004264	EFO:1001297	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001297	"A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." []	213410	\N	\N	EFO	1	EFO	vascular disease	Coronary-Subclavian Steal Syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001297	"A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." []	567228	\N	\N	EFO	2	EFO	cardiovascular disease	Coronary-Subclavian Steal Syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001297	"A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." []	567229	\N	\N	EFO	2	EFO	cardiovascular disease	Coronary-Subclavian Steal Syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001297	"A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." []	1148662	\N	\N	EFO	3	EFO	disease	Coronary-Subclavian Steal Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001297	"A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." []	2030904	\N	\N	EFO	4	EFO	disposition	Coronary-Subclavian Steal Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001297	"A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." []	3181526	\N	\N	EFO	5	EFO	material property	Coronary-Subclavian Steal Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001297	"A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." []	4389865	\N	\N	EFO	6	EFO	experimental factor	Coronary-Subclavian Steal Syndrome
EFO:1001298	\N	\N	"Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." []	EFO:1001298	"Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." []	70884	\N	\N	EFO	0	EFO	Coxa Vara	Coxa Vara
EFO:0004260	EFO:1001298	\N	"Diseases of BONES." []	EFO:1001298	"Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." []	213411	\N	\N	EFO	1	EFO	bone disease	Coxa Vara
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001298	"Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." []	567230	\N	\N	EFO	2	EFO	skeletal system disease	Coxa Vara
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001298	"Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." []	1148663	\N	\N	EFO	3	EFO	disease	Coxa Vara
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001298	"Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." []	2030905	\N	\N	EFO	4	EFO	disposition	Coxa Vara
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001298	"Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." []	3181527	\N	\N	EFO	5	EFO	material property	Coxa Vara
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001298	"Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." []	4389866	\N	\N	EFO	6	EFO	experimental factor	Coxa Vara
EFO:1001299	\N	\N	"Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia." []	EFO:1001299	"Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia." []	70885	\N	\N	EFO	0	EFO	Crush Syndrome	Crush Syndrome
EFO:0003867	EFO:1001299	\N	"Necrosis or disintegration of skeletal muscle often followed by myoglobinuria." []	EFO:1001299	"Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia." []	213412	\N	\N	EFO	1	EFO	rhabdomyolysis	Crush Syndrome
EFO:0002970	EFO:0003867	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1001299	"Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia." []	567231	\N	\N	EFO	2	EFO	muscular disease	Crush Syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1001299	"Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia." []	1148664	\N	\N	EFO	3	EFO	skeletal system disease	Crush Syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001299	"Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia." []	2030906	\N	\N	EFO	4	EFO	disease	Crush Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001299	"Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia." []	3181528	\N	\N	EFO	5	EFO	disposition	Crush Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001299	"Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia." []	4389867	\N	\N	EFO	6	EFO	material property	Crush Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001299	"Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia." []	5409476	\N	\N	EFO	7	EFO	experimental factor	Crush Syndrome
EFO:1001300	\N	\N	"An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \\"pneumonia-like\\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." []	EFO:1001300	"An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \\"pneumonia-like\\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." []	70886	\N	\N	EFO	0	EFO	Cryptogenic Organizing Pneumonia	Cryptogenic Organizing Pneumonia
EFO:0003106	EFO:1001300	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:1001300	"An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \\"pneumonia-like\\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." []	213413	\N	\N	EFO	1	EFO	pneumonia	Cryptogenic Organizing Pneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001300	"An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \\"pneumonia-like\\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." []	567232	\N	\N	EFO	2	EFO	lung disease	Cryptogenic Organizing Pneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001300	"An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \\"pneumonia-like\\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." []	567233	\N	\N	EFO	2	EFO	infectious disease	Cryptogenic Organizing Pneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001300	"An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \\"pneumonia-like\\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." []	1148665	\N	\N	EFO	3	EFO	respiratory system disease	Cryptogenic Organizing Pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001300	"An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \\"pneumonia-like\\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." []	1148666	\N	\N	EFO	3	EFO	disease	Cryptogenic Organizing Pneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001300	"An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \\"pneumonia-like\\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." []	2030907	\N	\N	EFO	4	EFO	disease	Cryptogenic Organizing Pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001300	"An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \\"pneumonia-like\\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." []	3181529	\N	\N	EFO	5	EFO	disposition	Cryptogenic Organizing Pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001300	"An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \\"pneumonia-like\\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." []	4133113	\N	\N	EFO	6	EFO	material property	Cryptogenic Organizing Pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001300	"An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a \\"pneumonia-like\\" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts." []	5181346	\N	\N	EFO	7	EFO	experimental factor	Cryptogenic Organizing Pneumonia
EFO:1001301	\N	\N	"Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" []	EFO:1001301	"Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" []	70887	\N	\N	EFO	0	EFO	Cubital Tunnel Syndrome	Cubital Tunnel Syndrome
EFO:0000618	EFO:1001301	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001301	"Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" []	213414	\N	\N	EFO	1	EFO	nervous system disease	Cubital Tunnel Syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001301	"Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" []	567234	\N	\N	EFO	2	EFO	disease	Cubital Tunnel Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001301	"Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" []	1148667	\N	\N	EFO	3	EFO	disposition	Cubital Tunnel Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001301	"Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" []	2030909	\N	\N	EFO	4	EFO	material property	Cubital Tunnel Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001301	"Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" []	3181531	\N	\N	EFO	5	EFO	experimental factor	Cubital Tunnel Syndrome
EFO:1001302	\N	\N	"Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness." []	EFO:1001302	"Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness." []	70888	\N	\N	EFO	0	EFO	Cytomegalovirus Retinitis	Cytomegalovirus Retinitis
EFO:0000763	EFO:1001302	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001302	"Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness." []	213415	\N	\N	EFO	1	EFO	viral disease	Cytomegalovirus Retinitis
EFO:0003966	EFO:1001302	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001302	"Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness." []	213416	\N	\N	EFO	1	EFO	eye disease	Cytomegalovirus Retinitis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001302	"Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness." []	567235	\N	\N	EFO	2	EFO	infectious disease	Cytomegalovirus Retinitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001302	"Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness." []	567236	\N	\N	EFO	2	EFO	disease	Cytomegalovirus Retinitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001302	"Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness." []	1148668	\N	\N	EFO	3	EFO	disease	Cytomegalovirus Retinitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001302	"Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness." []	2030910	\N	\N	EFO	4	EFO	disposition	Cytomegalovirus Retinitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001302	"Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness." []	3000084	\N	\N	EFO	5	EFO	material property	Cytomegalovirus Retinitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001302	"Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness." []	4133114	\N	\N	EFO	6	EFO	experimental factor	Cytomegalovirus Retinitis
EFO:1001303	\N	\N	"Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." []	EFO:1001303	"Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." []	70889	\N	\N	EFO	0	EFO	Deltaretrovirus Infections	Deltaretrovirus Infections
EFO:0000763	EFO:1001303	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001303	"Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." []	213417	\N	\N	EFO	1	EFO	viral disease	Deltaretrovirus Infections
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001303	"Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." []	567237	\N	\N	EFO	2	EFO	infectious disease	Deltaretrovirus Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001303	"Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." []	1148670	\N	\N	EFO	3	EFO	disease	Deltaretrovirus Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001303	"Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." []	2030912	\N	\N	EFO	4	EFO	disposition	Deltaretrovirus Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001303	"Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." []	3181533	\N	\N	EFO	5	EFO	material property	Deltaretrovirus Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001303	"Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." []	4389869	\N	\N	EFO	6	EFO	experimental factor	Deltaretrovirus Infections
EFO:1001304	\N	\N	"An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." []	EFO:1001304	"An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." []	70890	\N	\N	EFO	0	EFO	Dental enamel hypoplasia	Dental enamel hypoplasia
EFO:1001047	EFO:1001304	\N	"Any disease of the oral cavity" []	EFO:1001304	"An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." []	213418	\N	\N	EFO	1	EFO	mouth disease	Dental enamel hypoplasia
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001304	"An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." []	567238	\N	\N	EFO	2	EFO	digestive system disease	Dental enamel hypoplasia
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001304	"An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." []	567239	\N	\N	EFO	2	EFO	head disease	Dental enamel hypoplasia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001304	"An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." []	1148671	\N	\N	EFO	3	EFO	disease	Dental enamel hypoplasia
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001304	"An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." []	1148672	\N	\N	EFO	3	EFO	disease	Dental enamel hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001304	"An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." []	2030913	\N	\N	EFO	4	EFO	disposition	Dental enamel hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001304	"An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." []	3181534	\N	\N	EFO	5	EFO	material property	Dental enamel hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001304	"An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." []	4389870	\N	\N	EFO	6	EFO	experimental factor	Dental enamel hypoplasia
EFO:1001305	\N	\N	"A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)" []	EFO:1001305	"A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)" []	70891	\N	\N	EFO	0	EFO	Dermatitis, Perioral	Dermatitis, Perioral
EFO:1000698	EFO:1001305	\N	"Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." []	EFO:1001305	"A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)" []	213419	\N	\N	EFO	1	EFO	facial dermatosis	Dermatitis, Perioral
EFO:0000701	EFO:1000698	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001305	"A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)" []	567240	\N	\N	EFO	2	EFO	skin disease	Dermatitis, Perioral
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001305	"A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)" []	1148673	\N	\N	EFO	3	EFO	disease	Dermatitis, Perioral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001305	"A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)" []	2030914	\N	\N	EFO	4	EFO	disposition	Dermatitis, Perioral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001305	"A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)" []	3181535	\N	\N	EFO	5	EFO	material property	Dermatitis, Perioral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001305	"A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)" []	4389871	\N	\N	EFO	6	EFO	experimental factor	Dermatitis, Perioral
EFO:1001306	\N	\N	"DIARRHEA occurring in infants from newborn to 24-months old." []	EFO:1001306	"DIARRHEA occurring in infants from newborn to 24-months old." []	70892	\N	\N	EFO	0	EFO	Diarrhea, Infantile	Diarrhea, Infantile
HP:0002014	\N	\N	"Abnormally increased frequency of loose or watery bowel movements." [HPO:probinson]	EFO:1001306	"DIARRHEA occurring in infants from newborn to 24-months old." []	194954	\N	\N	EFO	0	EFO	Diarrhea	Diarrhea, Infantile
EFO:1001307	\N	\N	"Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus." []	EFO:1001307	"Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus." []	70893	\N	\N	EFO	0	EFO	dumping syndrome	dumping syndrome
EFO:0000405	EFO:1001307	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001307	"Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus." []	213420	\N	\N	EFO	1	EFO	digestive system disease	dumping syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001307	"Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus." []	567241	\N	\N	EFO	2	EFO	disease	dumping syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001307	"Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus." []	1148674	\N	\N	EFO	3	EFO	disposition	dumping syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001307	"Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus." []	2030915	\N	\N	EFO	4	EFO	material property	dumping syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001307	"Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus." []	3181536	\N	\N	EFO	5	EFO	experimental factor	dumping syndrome
EFO:1001308	\N	\N	"Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE." []	EFO:1001308	"Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE." []	70894	\N	\N	EFO	0	EFO	Embolism, Paradoxical	Embolism, Paradoxical
EFO:0004264	EFO:1001308	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001308	"Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE." []	213421	\N	\N	EFO	1	EFO	vascular disease	Embolism, Paradoxical
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001308	"Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE." []	567242	\N	\N	EFO	2	EFO	cardiovascular disease	Embolism, Paradoxical
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001308	"Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE." []	1148675	\N	\N	EFO	3	EFO	disease	Embolism, Paradoxical
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001308	"Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE." []	2030916	\N	\N	EFO	4	EFO	disposition	Embolism, Paradoxical
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001308	"Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE." []	3181537	\N	\N	EFO	5	EFO	material property	Embolism, Paradoxical
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001308	"Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE." []	4389872	\N	\N	EFO	6	EFO	experimental factor	Embolism, Paradoxical
EFO:1001309	\N	\N	"Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)" []	EFO:1001309	"Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)" []	70895	\N	\N	EFO	0	EFO	Encephalitis, Tick-Borne	Encephalitis, Tick-Borne
EFO:0001423	EFO:1001309	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:1001309	"Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)" []	213422	\N	\N	EFO	1	EFO	encephalomyelitis	Encephalitis, Tick-Borne
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:1001309	"Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)" []	567243	\N	\N	EFO	2	EFO	central nervous system infection	Encephalitis, Tick-Borne
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001309	"Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)" []	1148676	\N	\N	EFO	3	EFO	nervous system disease	Encephalitis, Tick-Borne
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001309	"Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)" []	2030917	\N	\N	EFO	4	EFO	disease	Encephalitis, Tick-Borne
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001309	"Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)" []	3181538	\N	\N	EFO	5	EFO	disposition	Encephalitis, Tick-Borne
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001309	"Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)" []	4389873	\N	\N	EFO	6	EFO	material property	Encephalitis, Tick-Borne
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001309	"Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)" []	5409477	\N	\N	EFO	7	EFO	experimental factor	Encephalitis, Tick-Borne
EFO:1001310	\N	\N	"Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)" []	EFO:1001310	"Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)" []	70896	\N	\N	EFO	0	EFO	Encephalitis, Varicella Zoster	Encephalitis, Varicella Zoster
EFO:0001423	EFO:1001310	\N	"A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." []	EFO:1001310	"Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)" []	213423	\N	\N	EFO	1	EFO	encephalomyelitis	Encephalitis, Varicella Zoster
EFO:1001456	EFO:0001423	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:1001310	"Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)" []	567244	\N	\N	EFO	2	EFO	central nervous system infection	Encephalitis, Varicella Zoster
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001310	"Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)" []	1148677	\N	\N	EFO	3	EFO	nervous system disease	Encephalitis, Varicella Zoster
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001310	"Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)" []	2030918	\N	\N	EFO	4	EFO	disease	Encephalitis, Varicella Zoster
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001310	"Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)" []	3181539	\N	\N	EFO	5	EFO	disposition	Encephalitis, Varicella Zoster
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001310	"Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)" []	4389874	\N	\N	EFO	6	EFO	material property	Encephalitis, Varicella Zoster
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001310	"Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)" []	5409478	\N	\N	EFO	7	EFO	experimental factor	Encephalitis, Varicella Zoster
EFO:1001311	\N	\N	"Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." []	EFO:1001311	"Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." []	70897	\N	\N	EFO	0	EFO	End Stage Liver Disease	End Stage Liver Disease
EFO:0001421	EFO:1001311	\N	"Pathological processes of the LIVER." []	EFO:1001311	"Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." []	213424	\N	\N	EFO	1	EFO	liver disease	End Stage Liver Disease
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001311	"Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." []	567245	\N	\N	EFO	2	EFO	digestive system disease	End Stage Liver Disease
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001311	"Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." []	567246	\N	\N	EFO	2	EFO	endocrine system disease	End Stage Liver Disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001311	"Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." []	1148678	\N	\N	EFO	3	EFO	disease	End Stage Liver Disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001311	"Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." []	1148679	\N	\N	EFO	3	EFO	disease	End Stage Liver Disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001311	"Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." []	2030919	\N	\N	EFO	4	EFO	disposition	End Stage Liver Disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001311	"Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." []	3181540	\N	\N	EFO	5	EFO	material property	End Stage Liver Disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001311	"Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." []	4389875	\N	\N	EFO	6	EFO	experimental factor	End Stage Liver Disease
EFO:1001312	\N	\N	"Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever." []	EFO:1001312	"Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever." []	70898	\N	\N	EFO	0	EFO	Endometritis	Endometritis
EFO:0000512	EFO:1001312	\N	"any diease of the reproductive system" []	EFO:1001312	"Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever." []	213425	\N	\N	EFO	1	EFO	reproductive system disease	Endometritis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001312	"Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever." []	567247	\N	\N	EFO	2	EFO	disease	Endometritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001312	"Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever." []	1148680	\N	\N	EFO	3	EFO	disposition	Endometritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001312	"Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever." []	2030920	\N	\N	EFO	4	EFO	material property	Endometritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001312	"Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever." []	3181541	\N	\N	EFO	5	EFO	experimental factor	Endometritis
EFO:1001313	\N	\N	"Infections with bacteria of the family ENTEROBACTERIACEAE." []	EFO:1001313	"Infections with bacteria of the family ENTEROBACTERIACEAE." []	70899	\N	\N	EFO	0	EFO	Enterobacteriaceae Infections	Enterobacteriaceae Infections
EFO:0000771	EFO:1001313	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001313	"Infections with bacteria of the family ENTEROBACTERIACEAE." []	213426	\N	\N	EFO	1	EFO	bacterial disease	Enterobacteriaceae Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001313	"Infections with bacteria of the family ENTEROBACTERIACEAE." []	567248	\N	\N	EFO	2	EFO	infectious disease	Enterobacteriaceae Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001313	"Infections with bacteria of the family ENTEROBACTERIACEAE." []	1148681	\N	\N	EFO	3	EFO	disease	Enterobacteriaceae Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001313	"Infections with bacteria of the family ENTEROBACTERIACEAE." []	2030921	\N	\N	EFO	4	EFO	disposition	Enterobacteriaceae Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001313	"Infections with bacteria of the family ENTEROBACTERIACEAE." []	3181542	\N	\N	EFO	5	EFO	material property	Enterobacteriaceae Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001313	"Infections with bacteria of the family ENTEROBACTERIACEAE." []	4389876	\N	\N	EFO	6	EFO	experimental factor	Enterobacteriaceae Infections
EFO:1001314	\N	\N	"An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization." []	EFO:1001314	"An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization." []	70900	\N	\N	EFO	0	EFO	pseudomembranous enterocolitis	pseudomembranous enterocolitis
EFO:1001481	EFO:1001314	\N	"Enterocolitis or coloenteritis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or  most frequently  by significant losses of water and minerals, the consequence of diarrhea and vomiting." []	EFO:1001314	"An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization." []	213427	\N	\N	EFO	1	EFO	enterocolitis	pseudomembranous enterocolitis
EFO:0000405	EFO:1001481	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001314	"An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization." []	567249	\N	\N	EFO	2	EFO	digestive system disease	pseudomembranous enterocolitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001314	"An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization." []	1148682	\N	\N	EFO	3	EFO	disease	pseudomembranous enterocolitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001314	"An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization." []	2030922	\N	\N	EFO	4	EFO	disposition	pseudomembranous enterocolitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001314	"An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization." []	3181543	\N	\N	EFO	5	EFO	material property	pseudomembranous enterocolitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001314	"An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization." []	4389877	\N	\N	EFO	6	EFO	experimental factor	pseudomembranous enterocolitis
EFO:1001315	\N	\N	"A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." []	EFO:1001315	"A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." []	70901	\N	\N	EFO	0	EFO	Enzootic Bovine Leukosis	Enzootic Bovine Leukosis
EFO:0005932	EFO:1001315	\N	"A disease that occurs in animals." []	EFO:1001315	"A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." []	213428	\N	\N	EFO	1	EFO	animal disease	Enzootic Bovine Leukosis
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001315	"A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." []	567250	\N	\N	EFO	2	EFO	disease	Enzootic Bovine Leukosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001315	"A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." []	1148683	\N	\N	EFO	3	EFO	disposition	Enzootic Bovine Leukosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001315	"A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." []	2030923	\N	\N	EFO	4	EFO	material property	Enzootic Bovine Leukosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001315	"A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." []	3181544	\N	\N	EFO	5	EFO	experimental factor	Enzootic Bovine Leukosis
EFO:1001316	\N	\N	"A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" []	EFO:1001316	"A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" []	70902	\N	\N	EFO	0	EFO	Eosinophilia-Myalgia Syndrome	Eosinophilia-Myalgia Syndrome
EFO:0005140	EFO:1001316	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1001316	"A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" []	213429	\N	\N	EFO	1	EFO	autoimmune disease	Eosinophilia-Myalgia Syndrome
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001316	"A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" []	567251	\N	\N	EFO	2	EFO	immune system disease	Eosinophilia-Myalgia Syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001316	"A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" []	1148684	\N	\N	EFO	3	EFO	disease	Eosinophilia-Myalgia Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001316	"A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" []	2030924	\N	\N	EFO	4	EFO	disposition	Eosinophilia-Myalgia Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001316	"A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" []	3181545	\N	\N	EFO	5	EFO	material property	Eosinophilia-Myalgia Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001316	"A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" []	4389878	\N	\N	EFO	6	EFO	experimental factor	Eosinophilia-Myalgia Syndrome
EFO:1001317	\N	\N	"ne of the most common adolescent hip disorders and represents a unique type of instability of the proximal femoral growth plate. Four separate clinical groups are seen:" []	EFO:1001317	"ne of the most common adolescent hip disorders and represents a unique type of instability of the proximal femoral growth plate. Four separate clinical groups are seen:" []	70903	\N	\N	EFO	0	EFO	Epiphyses, Slipped	Epiphyses, Slipped
EFO:0004260	EFO:1001317	\N	"Diseases of BONES." []	EFO:1001317	"ne of the most common adolescent hip disorders and represents a unique type of instability of the proximal femoral growth plate. Four separate clinical groups are seen:" []	213430	\N	\N	EFO	1	EFO	bone disease	Epiphyses, Slipped
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001317	"ne of the most common adolescent hip disorders and represents a unique type of instability of the proximal femoral growth plate. Four separate clinical groups are seen:" []	567252	\N	\N	EFO	2	EFO	skeletal system disease	Epiphyses, Slipped
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001317	"ne of the most common adolescent hip disorders and represents a unique type of instability of the proximal femoral growth plate. Four separate clinical groups are seen:" []	1148685	\N	\N	EFO	3	EFO	disease	Epiphyses, Slipped
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001317	"ne of the most common adolescent hip disorders and represents a unique type of instability of the proximal femoral growth plate. Four separate clinical groups are seen:" []	2030925	\N	\N	EFO	4	EFO	disposition	Epiphyses, Slipped
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001317	"ne of the most common adolescent hip disorders and represents a unique type of instability of the proximal femoral growth plate. Four separate clinical groups are seen:" []	3181546	\N	\N	EFO	5	EFO	material property	Epiphyses, Slipped
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001317	"ne of the most common adolescent hip disorders and represents a unique type of instability of the proximal femoral growth plate. Four separate clinical groups are seen:" []	4389879	\N	\N	EFO	6	EFO	experimental factor	Epiphyses, Slipped
EFO:1001318	\N	\N	"Infections with bacteria of the species ESCHERICHIA COLI." []	EFO:1001318	"Infections with bacteria of the species ESCHERICHIA COLI." []	70904	\N	\N	EFO	0	EFO	Escherichia coli Infections	Escherichia coli Infections
EFO:0000771	EFO:1001318	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001318	"Infections with bacteria of the species ESCHERICHIA COLI." []	213431	\N	\N	EFO	1	EFO	bacterial disease	Escherichia coli Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001318	"Infections with bacteria of the species ESCHERICHIA COLI." []	567253	\N	\N	EFO	2	EFO	infectious disease	Escherichia coli Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001318	"Infections with bacteria of the species ESCHERICHIA COLI." []	1148686	\N	\N	EFO	3	EFO	disease	Escherichia coli Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001318	"Infections with bacteria of the species ESCHERICHIA COLI." []	2030926	\N	\N	EFO	4	EFO	disposition	Escherichia coli Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001318	"Infections with bacteria of the species ESCHERICHIA COLI." []	3181547	\N	\N	EFO	5	EFO	material property	Escherichia coli Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001318	"Infections with bacteria of the species ESCHERICHIA COLI." []	4389880	\N	\N	EFO	6	EFO	experimental factor	Escherichia coli Infections
EFO:1001319	\N	\N	"Infections with the protozoa of the phylum EUGLENOZOA." []	EFO:1001319	"Infections with the protozoa of the phylum EUGLENOZOA." []	70905	\N	\N	EFO	0	EFO	Euglenozoa Infections	Euglenozoa Infections
EFO:0001067	EFO:1001319	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001319	"Infections with the protozoa of the phylum EUGLENOZOA." []	213432	\N	\N	EFO	1	EFO	parasitic infection	Euglenozoa Infections
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001319	"Infections with the protozoa of the phylum EUGLENOZOA." []	567254	\N	\N	EFO	2	EFO	infectious disease	Euglenozoa Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001319	"Infections with the protozoa of the phylum EUGLENOZOA." []	1148687	\N	\N	EFO	3	EFO	disease	Euglenozoa Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001319	"Infections with the protozoa of the phylum EUGLENOZOA." []	2030927	\N	\N	EFO	4	EFO	disposition	Euglenozoa Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001319	"Infections with the protozoa of the phylum EUGLENOZOA." []	3181548	\N	\N	EFO	5	EFO	material property	Euglenozoa Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001319	"Infections with the protozoa of the phylum EUGLENOZOA." []	4389881	\N	\N	EFO	6	EFO	experimental factor	Euglenozoa Infections
EFO:1001320	\N	\N	"An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed)" []	EFO:1001320	"An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed)" []	70906	\N	\N	EFO	0	EFO	Exanthema Subitum	Exanthema Subitum
EFO:0000763	EFO:1001320	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001320	"An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed)" []	213433	\N	\N	EFO	1	EFO	viral disease	Exanthema Subitum
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001320	"An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed)" []	567255	\N	\N	EFO	2	EFO	infectious disease	Exanthema Subitum
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001320	"An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed)" []	1148688	\N	\N	EFO	3	EFO	disease	Exanthema Subitum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001320	"An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed)" []	2030928	\N	\N	EFO	4	EFO	disposition	Exanthema Subitum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001320	"An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed)" []	3181549	\N	\N	EFO	5	EFO	material property	Exanthema Subitum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001320	"An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed)" []	4389882	\N	\N	EFO	6	EFO	experimental factor	Exanthema Subitum
EFO:1001321	\N	\N	"A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis." []	EFO:1001321	"A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis." []	70907	\N	\N	EFO	0	EFO	extrinsic allergic alveolitis	extrinsic allergic alveolitis
EFO:0003785	EFO:1001321	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1001321	"A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis." []	213434	\N	\N	EFO	1	EFO	allergy	extrinsic allergic alveolitis
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001321	"A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis." []	567256	\N	\N	EFO	2	EFO	immune system disease	extrinsic allergic alveolitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001321	"A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis." []	1148689	\N	\N	EFO	3	EFO	disease	extrinsic allergic alveolitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001321	"A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis." []	2030929	\N	\N	EFO	4	EFO	disposition	extrinsic allergic alveolitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001321	"A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis." []	3181550	\N	\N	EFO	5	EFO	material property	extrinsic allergic alveolitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001321	"A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis." []	4389883	\N	\N	EFO	6	EFO	experimental factor	extrinsic allergic alveolitis
EFO:1001322	\N	\N	"Inanimate objects that become enclosed in the eye." []	EFO:1001322	"Inanimate objects that become enclosed in the eye." []	70908	\N	\N	EFO	0	EFO	Eye Foreign Bodies	Eye Foreign Bodies
EFO:0003966	EFO:1001322	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001322	"Inanimate objects that become enclosed in the eye." []	213435	\N	\N	EFO	1	EFO	eye disease	Eye Foreign Bodies
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001322	"Inanimate objects that become enclosed in the eye." []	567257	\N	\N	EFO	2	EFO	disease	Eye Foreign Bodies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001322	"Inanimate objects that become enclosed in the eye." []	1148690	\N	\N	EFO	3	EFO	disposition	Eye Foreign Bodies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001322	"Inanimate objects that become enclosed in the eye." []	2030930	\N	\N	EFO	4	EFO	material property	Eye Foreign Bodies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001322	"Inanimate objects that become enclosed in the eye." []	3181551	\N	\N	EFO	5	EFO	experimental factor	Eye Foreign Bodies
EFO:1001323	\N	\N	"Deeply perforating or puncturing type intraocular injuries." []	EFO:1001323	"Deeply perforating or puncturing type intraocular injuries." []	70909	\N	\N	EFO	0	EFO	Eye Injuries, Penetrating	Eye Injuries, Penetrating
EFO:0003966	EFO:1001323	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001323	"Deeply perforating or puncturing type intraocular injuries." []	213436	\N	\N	EFO	1	EFO	eye disease	Eye Injuries, Penetrating
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001323	"Deeply perforating or puncturing type intraocular injuries." []	567258	\N	\N	EFO	2	EFO	disease	Eye Injuries, Penetrating
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001323	"Deeply perforating or puncturing type intraocular injuries." []	1148691	\N	\N	EFO	3	EFO	disposition	Eye Injuries, Penetrating
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001323	"Deeply perforating or puncturing type intraocular injuries." []	2030931	\N	\N	EFO	4	EFO	material property	Eye Injuries, Penetrating
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001323	"Deeply perforating or puncturing type intraocular injuries." []	3181552	\N	\N	EFO	5	EFO	experimental factor	Eye Injuries, Penetrating
EFO:1001324	\N	\N	"Liver disease caused by infections with parasitic flukes of the genus FASCIOLA, such as FASCIOLA HEPATICA." []	EFO:1001324	"Liver disease caused by infections with parasitic flukes of the genus FASCIOLA, such as FASCIOLA HEPATICA." []	70910	\N	\N	EFO	0	EFO	Fascioliasis	Fascioliasis
EFO:0001067	EFO:1001324	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001324	"Liver disease caused by infections with parasitic flukes of the genus FASCIOLA, such as FASCIOLA HEPATICA." []	213437	\N	\N	EFO	1	EFO	parasitic infection	Fascioliasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001324	"Liver disease caused by infections with parasitic flukes of the genus FASCIOLA, such as FASCIOLA HEPATICA." []	567259	\N	\N	EFO	2	EFO	infectious disease	Fascioliasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001324	"Liver disease caused by infections with parasitic flukes of the genus FASCIOLA, such as FASCIOLA HEPATICA." []	1148692	\N	\N	EFO	3	EFO	disease	Fascioliasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001324	"Liver disease caused by infections with parasitic flukes of the genus FASCIOLA, such as FASCIOLA HEPATICA." []	2030932	\N	\N	EFO	4	EFO	disposition	Fascioliasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001324	"Liver disease caused by infections with parasitic flukes of the genus FASCIOLA, such as FASCIOLA HEPATICA." []	3181553	\N	\N	EFO	5	EFO	material property	Fascioliasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001324	"Liver disease caused by infections with parasitic flukes of the genus FASCIOLA, such as FASCIOLA HEPATICA." []	4389884	\N	\N	EFO	6	EFO	experimental factor	Fascioliasis
EFO:1001325	\N	\N	"A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" []	EFO:1001325	"A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" []	70911	\N	\N	EFO	0	EFO	abdominal fibromatosis	abdominal fibromatosis
EFO:0002424	EFO:1001325	\N	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	EFO:1001325	"A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" []	213438	\N	\N	EFO	1	EFO	fibroma	abdominal fibromatosis
EFO:0002422	EFO:0002424	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1001325	"A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" []	567260	\N	\N	EFO	2	EFO	benign neoplasm	abdominal fibromatosis
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001325	"A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" []	1148693	\N	\N	EFO	3	EFO	neoplasm	abdominal fibromatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001325	"A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" []	2030933	\N	\N	EFO	4	EFO	disease	abdominal fibromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001325	"A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" []	3181554	\N	\N	EFO	5	EFO	disposition	abdominal fibromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001325	"A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" []	4389885	\N	\N	EFO	6	EFO	material property	abdominal fibromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001325	"A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" []	5409479	\N	\N	EFO	7	EFO	experimental factor	abdominal fibromatosis
EFO:1001326	\N	\N	"Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE." []	EFO:1001326	"Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE." []	70912	\N	\N	EFO	0	EFO	Flavivirus Infections	Flavivirus Infections
EFO:0000763	EFO:1001326	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001326	"Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE." []	213439	\N	\N	EFO	1	EFO	viral disease	Flavivirus Infections
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001326	"Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE." []	567261	\N	\N	EFO	2	EFO	infectious disease	Flavivirus Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001326	"Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE." []	1148694	\N	\N	EFO	3	EFO	disease	Flavivirus Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001326	"Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE." []	2030934	\N	\N	EFO	4	EFO	disposition	Flavivirus Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001326	"Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE." []	3181555	\N	\N	EFO	5	EFO	material property	Flavivirus Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001326	"Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE." []	4389886	\N	\N	EFO	6	EFO	experimental factor	Flavivirus Infections
EFO:1001327	\N	\N	"Infections with bacteria of the family FLAVOBACTERIACEAE." []	EFO:1001327	"Infections with bacteria of the family FLAVOBACTERIACEAE." []	70913	\N	\N	EFO	0	EFO	Flavobacteriaceae Infections	Flavobacteriaceae Infections
EFO:0000771	EFO:1001327	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001327	"Infections with bacteria of the family FLAVOBACTERIACEAE." []	213440	\N	\N	EFO	1	EFO	bacterial disease	Flavobacteriaceae Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001327	"Infections with bacteria of the family FLAVOBACTERIACEAE." []	567262	\N	\N	EFO	2	EFO	infectious disease	Flavobacteriaceae Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001327	"Infections with bacteria of the family FLAVOBACTERIACEAE." []	1148695	\N	\N	EFO	3	EFO	disease	Flavobacteriaceae Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001327	"Infections with bacteria of the family FLAVOBACTERIACEAE." []	2030935	\N	\N	EFO	4	EFO	disposition	Flavobacteriaceae Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001327	"Infections with bacteria of the family FLAVOBACTERIACEAE." []	3181556	\N	\N	EFO	5	EFO	material property	Flavobacteriaceae Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001327	"Infections with bacteria of the family FLAVOBACTERIACEAE." []	4389887	\N	\N	EFO	6	EFO	experimental factor	Flavobacteriaceae Infections
EFO:1001328	\N	\N	"Fluoride toxicity is characterized by a variety of signs and symptoms. In the United States, poisoning most commonly follows ingestion (accidental or intentional) of fluoride-containing products. Symptom onset usually occurs within minutes of exposure, but may be delayed. Manifestations of fluoride toxicity are predominantly gastrointestinal (GI), but neurologic and cardiovascular effects also occur (see Presentation). Long-term exposure to fluoride through elevated levels in drinking water leads to skeletal and dental fluorosis." []	EFO:1001328	"Fluoride toxicity is characterized by a variety of signs and symptoms. In the United States, poisoning most commonly follows ingestion (accidental or intentional) of fluoride-containing products. Symptom onset usually occurs within minutes of exposure, but may be delayed. Manifestations of fluoride toxicity are predominantly gastrointestinal (GI), but neurologic and cardiovascular effects also occur (see Presentation). Long-term exposure to fluoride through elevated levels in drinking water leads to skeletal and dental fluorosis." []	70914	\N	\N	EFO	0	EFO	fluoride poisoning	fluoride poisoning
EFO:1001518	EFO:1001328	\N	"Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." []	EFO:1001328	"Fluoride toxicity is characterized by a variety of signs and symptoms. In the United States, poisoning most commonly follows ingestion (accidental or intentional) of fluoride-containing products. Symptom onset usually occurs within minutes of exposure, but may be delayed. Manifestations of fluoride toxicity are predominantly gastrointestinal (GI), but neurologic and cardiovascular effects also occur (see Presentation). Long-term exposure to fluoride through elevated levels in drinking water leads to skeletal and dental fluorosis." []	213441	\N	\N	EFO	1	EFO	heavy metal poisoning	fluoride poisoning
EFO:0000408	EFO:1001518	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001328	"Fluoride toxicity is characterized by a variety of signs and symptoms. In the United States, poisoning most commonly follows ingestion (accidental or intentional) of fluoride-containing products. Symptom onset usually occurs within minutes of exposure, but may be delayed. Manifestations of fluoride toxicity are predominantly gastrointestinal (GI), but neurologic and cardiovascular effects also occur (see Presentation). Long-term exposure to fluoride through elevated levels in drinking water leads to skeletal and dental fluorosis." []	567263	\N	\N	EFO	2	EFO	disease	fluoride poisoning
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001328	"Fluoride toxicity is characterized by a variety of signs and symptoms. In the United States, poisoning most commonly follows ingestion (accidental or intentional) of fluoride-containing products. Symptom onset usually occurs within minutes of exposure, but may be delayed. Manifestations of fluoride toxicity are predominantly gastrointestinal (GI), but neurologic and cardiovascular effects also occur (see Presentation). Long-term exposure to fluoride through elevated levels in drinking water leads to skeletal and dental fluorosis." []	1148696	\N	\N	EFO	3	EFO	disposition	fluoride poisoning
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001328	"Fluoride toxicity is characterized by a variety of signs and symptoms. In the United States, poisoning most commonly follows ingestion (accidental or intentional) of fluoride-containing products. Symptom onset usually occurs within minutes of exposure, but may be delayed. Manifestations of fluoride toxicity are predominantly gastrointestinal (GI), but neurologic and cardiovascular effects also occur (see Presentation). Long-term exposure to fluoride through elevated levels in drinking water leads to skeletal and dental fluorosis." []	2030936	\N	\N	EFO	4	EFO	material property	fluoride poisoning
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001328	"Fluoride toxicity is characterized by a variety of signs and symptoms. In the United States, poisoning most commonly follows ingestion (accidental or intentional) of fluoride-containing products. Symptom onset usually occurs within minutes of exposure, but may be delayed. Manifestations of fluoride toxicity are predominantly gastrointestinal (GI), but neurologic and cardiovascular effects also occur (see Presentation). Long-term exposure to fluoride through elevated levels in drinking water leads to skeletal and dental fluorosis." []	3181557	\N	\N	EFO	5	EFO	experimental factor	fluoride poisoning
EFO:1001329	\N	\N	"Cyst due to the occlusion of the duct of a follicle or small gland." []	EFO:1001329	"Cyst due to the occlusion of the duct of a follicle or small gland." []	70915	\N	\N	EFO	0	EFO	Follicular Cyst	Follicular Cyst
EFO:1000763	EFO:1001329	\N	"A skin disease that is located_in the sebaceous gland." []	EFO:1001329	"Cyst due to the occlusion of the duct of a follicle or small gland." []	213442	\N	\N	EFO	1	EFO	sebaceous gland disease	Follicular Cyst
EFO:0000701	EFO:1000763	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001329	"Cyst due to the occlusion of the duct of a follicle or small gland." []	567264	\N	\N	EFO	2	EFO	skin disease	Follicular Cyst
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001329	"Cyst due to the occlusion of the duct of a follicle or small gland." []	1148697	\N	\N	EFO	3	EFO	disease	Follicular Cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001329	"Cyst due to the occlusion of the duct of a follicle or small gland." []	2030937	\N	\N	EFO	4	EFO	disposition	Follicular Cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001329	"Cyst due to the occlusion of the duct of a follicle or small gland." []	3181558	\N	\N	EFO	5	EFO	material property	Follicular Cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001329	"Cyst due to the occlusion of the duct of a follicle or small gland." []	4389888	\N	\N	EFO	6	EFO	experimental factor	Follicular Cyst
EFO:1001330	\N	\N	"Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." []	EFO:1001330	"Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." []	70916	\N	\N	EFO	0	EFO	Foster-Kennedy syndrome	Foster-Kennedy syndrome
EFO:0000618	EFO:1001330	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001330	"Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." []	213443	\N	\N	EFO	1	EFO	nervous system disease	Foster-Kennedy syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001330	"Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." []	567265	\N	\N	EFO	2	EFO	disease	Foster-Kennedy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001330	"Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." []	1148698	\N	\N	EFO	3	EFO	disposition	Foster-Kennedy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001330	"Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." []	2030938	\N	\N	EFO	4	EFO	material property	Foster-Kennedy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001330	"Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." []	3181559	\N	\N	EFO	5	EFO	experimental factor	Foster-Kennedy syndrome
EFO:1001331	\N	\N	"Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)." []	EFO:1001331	"Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)." []	70917	\N	\N	EFO	0	EFO	Genital neoplasm, female	Genital neoplasm, female
EFO:0000512	EFO:1001331	\N	"any diease of the reproductive system" []	EFO:1001331	"Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)." []	213444	\N	\N	EFO	1	EFO	reproductive system disease	Genital neoplasm, female
EFO:0003863	EFO:1001331	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001331	"Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)." []	213445	\N	\N	EFO	1	EFO	urogenital neoplasm	Genital neoplasm, female
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001331	"Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)." []	567266	\N	\N	EFO	2	EFO	disease	Genital neoplasm, female
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001331	"Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)." []	567267	\N	\N	EFO	2	EFO	neoplasm	Genital neoplasm, female
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001331	"Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)." []	2030940	\N	\N	EFO	4	EFO	disposition	Genital neoplasm, female
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001331	"Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)." []	1148700	\N	\N	EFO	3	EFO	disease	Genital neoplasm, female
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001331	"Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)." []	3000085	\N	\N	EFO	5	EFO	material property	Genital neoplasm, female
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001331	"Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)." []	4133115	\N	\N	EFO	6	EFO	experimental factor	Genital neoplasm, female
EFO:1001332	\N	\N	"Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A." []	EFO:1001332	"Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A." []	70918	\N	\N	EFO	0	EFO	Giant Lymph Node Hyperplasia	Giant Lymph Node Hyperplasia
EFO:0007352	EFO:1001332	\N	"a disease in lymphatic system" []	EFO:1001332	"Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A." []	213446	\N	\N	EFO	1	EFO	lymphatic system disease	Giant Lymph Node Hyperplasia
EFO:0005803	EFO:0007352	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001332	"Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A." []	567268	\N	\N	EFO	2	EFO	hematological system disease	Giant Lymph Node Hyperplasia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001332	"Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A." []	1148701	\N	\N	EFO	3	EFO	disease	Giant Lymph Node Hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001332	"Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A." []	2030941	\N	\N	EFO	4	EFO	disposition	Giant Lymph Node Hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001332	"Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A." []	3181561	\N	\N	EFO	5	EFO	material property	Giant Lymph Node Hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001332	"Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A." []	4389889	\N	\N	EFO	6	EFO	experimental factor	Giant Lymph Node Hyperplasia
EFO:1001333	\N	\N	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	70919	\N	\N	EFO	0	EFO	Glycogen Storage Disease Type 2b	Glycogen Storage Disease Type 2b
Orphanet:365	EFO:1001333	\N	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	213447	\N	\N	EFO	1	EFO	Glycogen storage disease due to acid maltase deficiency	Glycogen Storage Disease Type 2b
Orphanet:206959	Orphanet:365	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	567269	\N	\N	EFO	2	EFO	Muscular glycogenosis	Glycogen Storage Disease Type 2b
Orphanet:217572	Orphanet:365	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	567270	\N	\N	EFO	2	EFO	Glycogen storage disease with hypertrophic cardiomyopathy	Glycogen Storage Disease Type 2b
Orphanet:217581	Orphanet:365	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	567271	\N	\N	EFO	2	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Glycogen Storage Disease Type 2b
Orphanet:217638	Orphanet:365	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	567272	\N	\N	EFO	2	EFO	Lysosomal disease with restrictive cardiomyopathy	Glycogen Storage Disease Type 2b
Orphanet:309337	Orphanet:365	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	567273	\N	\N	EFO	2	EFO	Lysosomal glycogen storage disease	Glycogen Storage Disease Type 2b
Orphanet:79201	Orphanet:365	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	567274	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen Storage Disease Type 2b
Orphanet:98486	Orphanet:206959	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	1148702	\N	\N	EFO	3	EFO	Metabolic myopathy	Glycogen Storage Disease Type 2b
Orphanet:99739	Orphanet:217572	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	1148703	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen Storage Disease Type 2b
Orphanet:99739	Orphanet:217581	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	1148704	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen Storage Disease Type 2b
Orphanet:217635	Orphanet:217638	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	1148705	\N	\N	EFO	3	EFO	Familial restrictive cardiomyopathy	Glycogen Storage Disease Type 2b
Orphanet:68366	Orphanet:309337	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	1148706	\N	\N	EFO	3	EFO	Lysosomal disease	Glycogen Storage Disease Type 2b
Orphanet:79161	Orphanet:79201	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	1148707	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen Storage Disease Type 2b
Orphanet:206656	Orphanet:98486	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	2030942	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Glycogen Storage Disease Type 2b
Orphanet:98054	Orphanet:99739	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	2030943	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Glycogen Storage Disease Type 2b
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	2030944	\N	\N	EFO	4	EFO	cardiomyopathy	Glycogen Storage Disease Type 2b
Orphanet:98054	Orphanet:217635	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	2030945	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Glycogen Storage Disease Type 2b
Orphanet:68367	Orphanet:68366	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	2030946	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen Storage Disease Type 2b
Orphanet:68367	Orphanet:79161	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	2030947	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen Storage Disease Type 2b
Orphanet:206634	Orphanet:206656	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	3181562	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Glycogen Storage Disease Type 2b
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	3181563	\N	\N	EFO	5	EFO	genetic disorder	Glycogen Storage Disease Type 2b
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	3181564	\N	\N	EFO	5	EFO	heart disease	Glycogen Storage Disease Type 2b
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	3181565	\N	\N	EFO	5	EFO	heart disease	Glycogen Storage Disease Type 2b
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	3181566	\N	\N	EFO	5	EFO	genetic disorder	Glycogen Storage Disease Type 2b
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	3181567	\N	\N	EFO	5	EFO	metabolic disease	Glycogen Storage Disease Type 2b
Orphanet:183497	Orphanet:206634	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	4389890	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Glycogen Storage Disease Type 2b
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	6631880	\N	\N	EFO	9	EFO	disease	Glycogen Storage Disease Type 2b
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	4389892	\N	\N	EFO	6	EFO	cardiovascular disease	Glycogen Storage Disease Type 2b
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	4389893	\N	\N	EFO	6	EFO	disease	Glycogen Storage Disease Type 2b
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	5409480	\N	\N	EFO	7	EFO	muscular disease	Glycogen Storage Disease Type 2b
Orphanet:71859	Orphanet:183497	\N	"" []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	5409481	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Glycogen Storage Disease Type 2b
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	6807634	\N	\N	EFO	10	EFO	disposition	Glycogen Storage Disease Type 2b
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	5409483	\N	\N	EFO	7	EFO	disease	Glycogen Storage Disease Type 2b
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	6147663	\N	\N	EFO	8	EFO	skeletal system disease	Glycogen Storage Disease Type 2b
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	6147664	\N	\N	EFO	8	EFO	genetic disorder	Glycogen Storage Disease Type 2b
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	7048514	\N	\N	EFO	11	EFO	material property	Glycogen Storage Disease Type 2b
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	6631879	\N	\N	EFO	9	EFO	disease	Glycogen Storage Disease Type 2b
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001333	"An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2." []	7190177	\N	\N	EFO	12	EFO	experimental factor	Glycogen Storage Disease Type 2b
EFO:1001335	\N	\N	"Absence of a normal opening in the lumen of the female genital tract, from the FALLOPIAN TUBES to the VAGINA. This anomaly may be congenital or acquired due to injuries, diseases, or TISSUE ADHESIONS." []	EFO:1001335	"Absence of a normal opening in the lumen of the female genital tract, from the FALLOPIAN TUBES to the VAGINA. This anomaly may be congenital or acquired due to injuries, diseases, or TISSUE ADHESIONS." []	70920	\N	\N	EFO	0	EFO	Gynatresia	Gynatresia
EFO:0000512	EFO:1001335	\N	"any diease of the reproductive system" []	EFO:1001335	"Absence of a normal opening in the lumen of the female genital tract, from the FALLOPIAN TUBES to the VAGINA. This anomaly may be congenital or acquired due to injuries, diseases, or TISSUE ADHESIONS." []	213448	\N	\N	EFO	1	EFO	reproductive system disease	Gynatresia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001335	"Absence of a normal opening in the lumen of the female genital tract, from the FALLOPIAN TUBES to the VAGINA. This anomaly may be congenital or acquired due to injuries, diseases, or TISSUE ADHESIONS." []	567275	\N	\N	EFO	2	EFO	disease	Gynatresia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001335	"Absence of a normal opening in the lumen of the female genital tract, from the FALLOPIAN TUBES to the VAGINA. This anomaly may be congenital or acquired due to injuries, diseases, or TISSUE ADHESIONS." []	1148708	\N	\N	EFO	3	EFO	disposition	Gynatresia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001335	"Absence of a normal opening in the lumen of the female genital tract, from the FALLOPIAN TUBES to the VAGINA. This anomaly may be congenital or acquired due to injuries, diseases, or TISSUE ADHESIONS." []	2030948	\N	\N	EFO	4	EFO	material property	Gynatresia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001335	"Absence of a normal opening in the lumen of the female genital tract, from the FALLOPIAN TUBES to the VAGINA. This anomaly may be congenital or acquired due to injuries, diseases, or TISSUE ADHESIONS." []	3181568	\N	\N	EFO	5	EFO	experimental factor	Gynatresia
EFO:1001336	\N	\N	"A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe." []	EFO:1001336	"A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe." []	70921	\N	\N	EFO	0	EFO	Hammer Toe Syndrome	Hammer Toe Syndrome
EFO:0002461	EFO:1001336	\N	"Any disease which affects part of the skeletal system." []	EFO:1001336	"A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe." []	213449	\N	\N	EFO	1	EFO	skeletal system disease	Hammer Toe Syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001336	"A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe." []	567276	\N	\N	EFO	2	EFO	disease	Hammer Toe Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001336	"A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe." []	1148709	\N	\N	EFO	3	EFO	disposition	Hammer Toe Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001336	"A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe." []	2030949	\N	\N	EFO	4	EFO	material property	Hammer Toe Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001336	"A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe." []	3181569	\N	\N	EFO	5	EFO	experimental factor	Hammer Toe Syndrome
EFO:1001337	\N	\N	"An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity." []	EFO:1001337	"An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity." []	70922	\N	\N	EFO	0	EFO	Hand-Arm Vibration Syndrome	Hand-Arm Vibration Syndrome
EFO:0000618	EFO:1001337	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001337	"An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity." []	213450	\N	\N	EFO	1	EFO	nervous system disease	Hand-Arm Vibration Syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001337	"An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity." []	567277	\N	\N	EFO	2	EFO	disease	Hand-Arm Vibration Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001337	"An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity." []	1148710	\N	\N	EFO	3	EFO	disposition	Hand-Arm Vibration Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001337	"An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity." []	2030950	\N	\N	EFO	4	EFO	material property	Hand-Arm Vibration Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001337	"An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity." []	3181570	\N	\N	EFO	5	EFO	experimental factor	Hand-Arm Vibration Syndrome
EFO:1001338	\N	\N	"Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." []	EFO:1001338	"Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." []	70923	\N	\N	EFO	0	EFO	Hearing Loss, Noise-Induced	Hearing Loss, Noise-Induced
EFO:1001176	EFO:1001338	\N	"Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss." []	EFO:1001338	"Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." []	213451	\N	\N	EFO	1	EFO	sensorineural hearing loss	Hearing Loss, Noise-Induced
EFO:0001058	EFO:1001176	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1001338	"Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." []	567278	\N	\N	EFO	2	EFO	sensory system disease	Hearing Loss, Noise-Induced
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001338	"Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." []	1148711	\N	\N	EFO	3	EFO	nervous system disease	Hearing Loss, Noise-Induced
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001338	"Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." []	2030951	\N	\N	EFO	4	EFO	disease	Hearing Loss, Noise-Induced
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001338	"Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." []	3181571	\N	\N	EFO	5	EFO	disposition	Hearing Loss, Noise-Induced
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001338	"Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." []	4389894	\N	\N	EFO	6	EFO	material property	Hearing Loss, Noise-Induced
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001338	"Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." []	5409484	\N	\N	EFO	7	EFO	experimental factor	Hearing Loss, Noise-Induced
EFO:1001339	\N	\N	"Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM." []	EFO:1001339	"Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM." []	70924	\N	\N	EFO	0	EFO	Heart neoplasm	Heart neoplasm
EFO:0000616	EFO:1001339	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001339	"Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM." []	213452	\N	\N	EFO	1	EFO	neoplasm	Heart neoplasm
EFO:0003777	EFO:1001339	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001339	"Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM." []	213453	\N	\N	EFO	1	EFO	heart disease	Heart neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001339	"Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM." []	567279	\N	\N	EFO	2	EFO	disease	Heart neoplasm
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001339	"Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM." []	567280	\N	\N	EFO	2	EFO	cardiovascular disease	Heart neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001339	"Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM." []	2030953	\N	\N	EFO	4	EFO	disposition	Heart neoplasm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001339	"Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM." []	1148713	\N	\N	EFO	3	EFO	disease	Heart neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001339	"Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM." []	3000086	\N	\N	EFO	5	EFO	material property	Heart neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001339	"Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM." []	4133116	\N	\N	EFO	6	EFO	experimental factor	Heart neoplasm
EFO:1001340	\N	\N	"A condition caused by the failure of body to dissipate heat in an excessively hot environment or during PHYSICAL EXERTION in a hot environment. Contrast to HEAT EXHAUSTION, the body temperature in heat stroke patient is dangerously high with red, hot skin accompanied by DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly." []	EFO:1001340	"A condition caused by the failure of body to dissipate heat in an excessively hot environment or during PHYSICAL EXERTION in a hot environment. Contrast to HEAT EXHAUSTION, the body temperature in heat stroke patient is dangerously high with red, hot skin accompanied by DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly." []	70925	\N	\N	EFO	0	EFO	Heat Stroke	Heat Stroke
HP:0001945	\N	\N	"Elevated body temperature due to failed thermoregulation." [HPO:sdoelken]	EFO:1001340	"A condition caused by the failure of body to dissipate heat in an excessively hot environment or during PHYSICAL EXERTION in a hot environment. Contrast to HEAT EXHAUSTION, the body temperature in heat stroke patient is dangerously high with red, hot skin accompanied by DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly." []	194955	\N	\N	EFO	0	EFO	Fever	Heat Stroke
EFO:1001341	\N	\N	"A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes." []	EFO:1001341	"A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes." []	70926	\N	\N	EFO	0	EFO	Heavy Chain Disease	Heavy Chain Disease
EFO:0000540	EFO:1001341	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001341	"A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes." []	213454	\N	\N	EFO	1	EFO	immune system disease	Heavy Chain Disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001341	"A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes." []	567281	\N	\N	EFO	2	EFO	disease	Heavy Chain Disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001341	"A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes." []	1148714	\N	\N	EFO	3	EFO	disposition	Heavy Chain Disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001341	"A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes." []	2030954	\N	\N	EFO	4	EFO	material property	Heavy Chain Disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001341	"A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes." []	3181573	\N	\N	EFO	5	EFO	experimental factor	Heavy Chain Disease
EFO:1001342	\N	\N	"Infestation with parasitic worms of the helminth class." []	EFO:1001342	"Infestation with parasitic worms of the helminth class." []	70927	\N	\N	EFO	0	EFO	Helminthiasis	Helminthiasis
EFO:0001067	EFO:1001342	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001342	"Infestation with parasitic worms of the helminth class." []	213455	\N	\N	EFO	1	EFO	parasitic infection	Helminthiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001342	"Infestation with parasitic worms of the helminth class." []	567282	\N	\N	EFO	2	EFO	infectious disease	Helminthiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001342	"Infestation with parasitic worms of the helminth class." []	1148715	\N	\N	EFO	3	EFO	disease	Helminthiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001342	"Infestation with parasitic worms of the helminth class." []	2030955	\N	\N	EFO	4	EFO	disposition	Helminthiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001342	"Infestation with parasitic worms of the helminth class." []	3181574	\N	\N	EFO	5	EFO	material property	Helminthiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001342	"Infestation with parasitic worms of the helminth class." []	4389895	\N	\N	EFO	6	EFO	experimental factor	Helminthiasis
EFO:1001343	\N	\N	"A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit." []	EFO:1001343	"A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit." []	70928	\N	\N	EFO	0	EFO	Hemangioma, Cavernous, Central Nervous System	Hemangioma, Cavernous, Central Nervous System
EFO:0000618	EFO:1001343	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001343	"A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit." []	213456	\N	\N	EFO	1	EFO	nervous system disease	Hemangioma, Cavernous, Central Nervous System
EFO:1000151	EFO:1001343	\N	"A hemangioma characterized by the presence of cavernous vascular spaces." []	EFO:1001343	"A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit." []	213457	\N	\N	EFO	1	EFO	Cavernous Hemangioma	Hemangioma, Cavernous, Central Nervous System
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001343	"A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit." []	567283	\N	\N	EFO	2	EFO	disease	Hemangioma, Cavernous, Central Nervous System
EFO:1000635	EFO:1000151	\N	"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." []	EFO:1001343	"A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit." []	567284	\N	\N	EFO	2	EFO	hemangioma	Hemangioma, Cavernous, Central Nervous System
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001343	"A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit." []	3181576	\N	\N	EFO	5	EFO	disposition	Hemangioma, Cavernous, Central Nervous System
EFO:0000616	EFO:1000635	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001343	"A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit." []	1148717	\N	\N	EFO	3	EFO	neoplasm	Hemangioma, Cavernous, Central Nervous System
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001343	"A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit." []	4066818	\N	\N	EFO	6	EFO	material property	Hemangioma, Cavernous, Central Nervous System
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001343	"A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit." []	2030957	\N	\N	EFO	4	EFO	disease	Hemangioma, Cavernous, Central Nervous System
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001343	"A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit." []	5059511	\N	\N	EFO	7	EFO	experimental factor	Hemangioma, Cavernous, Central Nervous System
EFO:1001344	\N	\N	"Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." []	EFO:1001344	"Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." []	70929	\N	\N	EFO	0	EFO	Hemarthrosis	Hemarthrosis
EFO:0005803	EFO:1001344	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001344	"Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." []	213458	\N	\N	EFO	1	EFO	hematological system disease	Hemarthrosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001344	"Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." []	567285	\N	\N	EFO	2	EFO	disease	Hemarthrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001344	"Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." []	1148718	\N	\N	EFO	3	EFO	disposition	Hemarthrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001344	"Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." []	2030958	\N	\N	EFO	4	EFO	material property	Hemarthrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001344	"Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." []	3181577	\N	\N	EFO	5	EFO	experimental factor	Hemarthrosis
EFO:1001345	\N	\N	"INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." []	EFO:1001345	"INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." []	70930	\N	\N	EFO	0	EFO	Hepatitis, Alcoholic	Hepatitis, Alcoholic
EFO:0001421	EFO:1001345	\N	"Pathological processes of the LIVER." []	EFO:1001345	"INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." []	213459	\N	\N	EFO	1	EFO	liver disease	Hepatitis, Alcoholic
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001345	"INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." []	567286	\N	\N	EFO	2	EFO	digestive system disease	Hepatitis, Alcoholic
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001345	"INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." []	567287	\N	\N	EFO	2	EFO	endocrine system disease	Hepatitis, Alcoholic
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001345	"INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." []	1148719	\N	\N	EFO	3	EFO	disease	Hepatitis, Alcoholic
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001345	"INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." []	1148720	\N	\N	EFO	3	EFO	disease	Hepatitis, Alcoholic
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001345	"INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." []	2030959	\N	\N	EFO	4	EFO	disposition	Hepatitis, Alcoholic
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001345	"INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." []	3181578	\N	\N	EFO	5	EFO	material property	Hepatitis, Alcoholic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001345	"INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." []	4389896	\N	\N	EFO	6	EFO	experimental factor	Hepatitis, Alcoholic
EFO:1001346	\N	\N	"A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)." []	EFO:1001346	"A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)." []	70931	\N	\N	EFO	0	EFO	Hepatopulmonary Syndrome	Hepatopulmonary Syndrome
EFO:0004264	EFO:1001346	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001346	"A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)." []	213460	\N	\N	EFO	1	EFO	vascular disease	Hepatopulmonary Syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001346	"A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)." []	567288	\N	\N	EFO	2	EFO	cardiovascular disease	Hepatopulmonary Syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001346	"A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)." []	1148721	\N	\N	EFO	3	EFO	disease	Hepatopulmonary Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001346	"A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)." []	2030960	\N	\N	EFO	4	EFO	disposition	Hepatopulmonary Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001346	"A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)." []	3181579	\N	\N	EFO	5	EFO	material property	Hepatopulmonary Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001346	"A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)." []	4389897	\N	\N	EFO	6	EFO	experimental factor	Hepatopulmonary Syndrome
EFO:1001347	\N	\N	"Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)" []	EFO:1001347	"Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)" []	70932	\N	\N	EFO	0	EFO	Herpes Labialis	Herpes Labialis
EFO:0007309	EFO:1001347	\N	"A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses." []	EFO:1001347	"Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)" []	213461	\N	\N	EFO	1	EFO	Herpesviridae infectious disease	Herpes Labialis
EFO:0000763	EFO:0007309	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001347	"Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)" []	567289	\N	\N	EFO	2	EFO	viral disease	Herpes Labialis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001347	"Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)" []	1148722	\N	\N	EFO	3	EFO	infectious disease	Herpes Labialis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001347	"Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)" []	2030961	\N	\N	EFO	4	EFO	disease	Herpes Labialis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001347	"Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)" []	3181580	\N	\N	EFO	5	EFO	disposition	Herpes Labialis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001347	"Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)" []	4389898	\N	\N	EFO	6	EFO	material property	Herpes Labialis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001347	"Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)" []	5409485	\N	\N	EFO	7	EFO	experimental factor	Herpes Labialis
EFO:1001348	\N	\N	"Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors." []	EFO:1001348	"Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors." []	70933	\N	\N	EFO	0	EFO	HIV-Associated Lipodystrophy Syndrome	HIV-Associated Lipodystrophy Syndrome
EFO:0000764	EFO:1001348	\N	"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)." []	EFO:1001348	"Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors." []	213462	\N	\N	EFO	1	EFO	HIV infection	HIV-Associated Lipodystrophy Syndrome
EFO:0000763	EFO:0000764	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001348	"Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors." []	567290	\N	\N	EFO	2	EFO	viral disease	HIV-Associated Lipodystrophy Syndrome
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001348	"Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors." []	1148723	\N	\N	EFO	3	EFO	infectious disease	HIV-Associated Lipodystrophy Syndrome
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001348	"Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors." []	2030962	\N	\N	EFO	4	EFO	disease	HIV-Associated Lipodystrophy Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001348	"Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors." []	3181581	\N	\N	EFO	5	EFO	disposition	HIV-Associated Lipodystrophy Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001348	"Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors." []	4389899	\N	\N	EFO	6	EFO	material property	HIV-Associated Lipodystrophy Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001348	"Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors." []	5409486	\N	\N	EFO	7	EFO	experimental factor	HIV-Associated Lipodystrophy Syndrome
EFO:1001349	\N	\N	"infection associated with HTLV-2 virus" []	EFO:1001349	"infection associated with HTLV-2 virus" []	70934	\N	\N	EFO	0	EFO	Human T-lymphotropic virus 2 infectious disease	Human T-lymphotropic virus 2 infectious disease
EFO:0000763	EFO:1001349	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001349	"infection associated with HTLV-2 virus" []	213463	\N	\N	EFO	1	EFO	viral disease	Human T-lymphotropic virus 2 infectious disease
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001349	"infection associated with HTLV-2 virus" []	567291	\N	\N	EFO	2	EFO	infectious disease	Human T-lymphotropic virus 2 infectious disease
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001349	"infection associated with HTLV-2 virus" []	1148724	\N	\N	EFO	3	EFO	disease	Human T-lymphotropic virus 2 infectious disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001349	"infection associated with HTLV-2 virus" []	2030963	\N	\N	EFO	4	EFO	disposition	Human T-lymphotropic virus 2 infectious disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001349	"infection associated with HTLV-2 virus" []	3181582	\N	\N	EFO	5	EFO	material property	Human T-lymphotropic virus 2 infectious disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001349	"infection associated with HTLV-2 virus" []	4389900	\N	\N	EFO	6	EFO	experimental factor	Human T-lymphotropic virus 2 infectious disease
EFO:1001350	\N	\N	"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." []	EFO:1001350	"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." []	70935	\N	\N	EFO	0	EFO	Immunoblastic Lymphadenopathy	Immunoblastic Lymphadenopathy
EFO:0000574	EFO:1001350	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1001350	"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." []	213464	\N	\N	EFO	1	EFO	lymphoma	Immunoblastic Lymphadenopathy
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001350	"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." []	567292	\N	\N	EFO	2	EFO	lymphoid neoplasm	Immunoblastic Lymphadenopathy
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001350	"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." []	1148725	\N	\N	EFO	3	EFO	cancer	Immunoblastic Lymphadenopathy
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001350	"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." []	1148726	\N	\N	EFO	3	EFO	hematological system disease	Immunoblastic Lymphadenopathy
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001350	"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." []	2030964	\N	\N	EFO	4	EFO	neoplasm	Immunoblastic Lymphadenopathy
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001350	"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." []	2030965	\N	\N	EFO	4	EFO	disease	Immunoblastic Lymphadenopathy
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001350	"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." []	3181583	\N	\N	EFO	5	EFO	disease	Immunoblastic Lymphadenopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001350	"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." []	4389901	\N	\N	EFO	6	EFO	disposition	Immunoblastic Lymphadenopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001350	"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." []	5181347	\N	\N	EFO	7	EFO	material property	Immunoblastic Lymphadenopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001350	"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." []	5996764	\N	\N	EFO	8	EFO	experimental factor	Immunoblastic Lymphadenopathy
EFO:1001351	\N	\N	"Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." []	EFO:1001351	"Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." []	70936	\N	\N	EFO	0	EFO	infectious arthritis	infectious arthritis
EFO:0005856	EFO:1001351	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:1001351	"Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." []	213465	\N	\N	EFO	1	EFO	arthritis	infectious arthritis
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1001351	"Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." []	567293	\N	\N	EFO	2	EFO	autoimmune disease	infectious arthritis
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:1001351	"Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." []	567294	\N	\N	EFO	2	EFO	rheumatic disease	infectious arthritis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001351	"Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." []	1148727	\N	\N	EFO	3	EFO	immune system disease	infectious arthritis
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:1001351	"Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." []	1148728	\N	\N	EFO	3	EFO	skeletal system disease	infectious arthritis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001351	"Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." []	2030966	\N	\N	EFO	4	EFO	disease	infectious arthritis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001351	"Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." []	2030967	\N	\N	EFO	4	EFO	disease	infectious arthritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001351	"Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." []	3181585	\N	\N	EFO	5	EFO	disposition	infectious arthritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001351	"Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." []	4389903	\N	\N	EFO	6	EFO	material property	infectious arthritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001351	"Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES." []	5409488	\N	\N	EFO	7	EFO	experimental factor	infectious arthritis
EFO:1001352	\N	\N	"An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts." []	EFO:1001352	"An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts." []	70937	\N	\N	EFO	0	EFO	Kartagener Syndrome	Kartagener Syndrome
EFO:0000508	EFO:1001352	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001352	"An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts." []	213466	\N	\N	EFO	1	EFO	genetic disorder	Kartagener Syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001352	"An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts." []	567295	\N	\N	EFO	2	EFO	disease	Kartagener Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001352	"An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts." []	1148729	\N	\N	EFO	3	EFO	disposition	Kartagener Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001352	"An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts." []	2030968	\N	\N	EFO	4	EFO	material property	Kartagener Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001352	"An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts." []	3181586	\N	\N	EFO	5	EFO	experimental factor	Kartagener Syndrome
EFO:1001353	\N	\N	"Infections with bacteria of the genus KLEBSIELLA." []	EFO:1001353	"Infections with bacteria of the genus KLEBSIELLA." []	70938	\N	\N	EFO	0	EFO	Klebsiella Infections	Klebsiella Infections
EFO:0000771	EFO:1001353	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001353	"Infections with bacteria of the genus KLEBSIELLA." []	213467	\N	\N	EFO	1	EFO	bacterial disease	Klebsiella Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001353	"Infections with bacteria of the genus KLEBSIELLA." []	567296	\N	\N	EFO	2	EFO	infectious disease	Klebsiella Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001353	"Infections with bacteria of the genus KLEBSIELLA." []	1148730	\N	\N	EFO	3	EFO	disease	Klebsiella Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001353	"Infections with bacteria of the genus KLEBSIELLA." []	2030969	\N	\N	EFO	4	EFO	disposition	Klebsiella Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001353	"Infections with bacteria of the genus KLEBSIELLA." []	3181587	\N	\N	EFO	5	EFO	material property	Klebsiella Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001353	"Infections with bacteria of the genus KLEBSIELLA." []	4389904	\N	\N	EFO	6	EFO	experimental factor	Klebsiella Infections
EFO:1001354	\N	\N	"A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)" []	EFO:1001354	"A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)" []	70939	\N	\N	EFO	0	EFO	Kleine-Levin Syndrome	Kleine-Levin Syndrome
EFO:0005246	EFO:1001354	\N	"a large group of disorders characterized by excessive daytime sleepiness" []	EFO:1001354	"A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)" []	213468	\N	\N	EFO	1	EFO	hypersomnia	Kleine-Levin Syndrome
EFO:0000618	EFO:0005246	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001354	"A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)" []	567297	\N	\N	EFO	2	EFO	nervous system disease	Kleine-Levin Syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001354	"A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)" []	1148731	\N	\N	EFO	3	EFO	disease	Kleine-Levin Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001354	"A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)" []	2030970	\N	\N	EFO	4	EFO	disposition	Kleine-Levin Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001354	"A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)" []	3181588	\N	\N	EFO	5	EFO	material property	Kleine-Levin Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001354	"A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)" []	4389905	\N	\N	EFO	6	EFO	experimental factor	Kleine-Levin Syndrome
EFO:1001355	\N	\N	"Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX." []	EFO:1001355	"Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX." []	70940	\N	\N	EFO	0	EFO	Laryngopharyngeal Reflux	Laryngopharyngeal Reflux
EFO:0003948	EFO:1001355	\N	"Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER." []	EFO:1001355	"Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX." []	213469	\N	\N	EFO	1	EFO	gastroesophageal reflux disease	Laryngopharyngeal Reflux
EFO:0000405	EFO:0003948	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001355	"Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX." []	567298	\N	\N	EFO	2	EFO	digestive system disease	Laryngopharyngeal Reflux
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001355	"Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX." []	1148732	\N	\N	EFO	3	EFO	disease	Laryngopharyngeal Reflux
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001355	"Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX." []	2030971	\N	\N	EFO	4	EFO	disposition	Laryngopharyngeal Reflux
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001355	"Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX." []	3181589	\N	\N	EFO	5	EFO	material property	Laryngopharyngeal Reflux
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001355	"Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX." []	4389906	\N	\N	EFO	6	EFO	experimental factor	Laryngopharyngeal Reflux
EFO:1001356	\N	\N	"A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)" []	EFO:1001356	"A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)" []	70941	\N	\N	EFO	0	EFO	Leiomyoma, Epithelioid	Leiomyoma, Epithelioid
EFO:0000616	EFO:1001356	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001356	"A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)" []	213470	\N	\N	EFO	1	EFO	neoplasm	Leiomyoma, Epithelioid
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001356	"A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)" []	567299	\N	\N	EFO	2	EFO	disease	Leiomyoma, Epithelioid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001356	"A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)" []	1148733	\N	\N	EFO	3	EFO	disposition	Leiomyoma, Epithelioid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001356	"A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)" []	2030972	\N	\N	EFO	4	EFO	material property	Leiomyoma, Epithelioid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001356	"A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)" []	3181590	\N	\N	EFO	5	EFO	experimental factor	Leiomyoma, Epithelioid
EFO:1001357	\N	\N	"Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." []	EFO:1001357	"Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." []	70942	\N	\N	EFO	0	EFO	Lentivirus Infections	Lentivirus Infections
EFO:0000763	EFO:1001357	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001357	"Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." []	213471	\N	\N	EFO	1	EFO	viral disease	Lentivirus Infections
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001357	"Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." []	567300	\N	\N	EFO	2	EFO	infectious disease	Lentivirus Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001357	"Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." []	1148734	\N	\N	EFO	3	EFO	disease	Lentivirus Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001357	"Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." []	2030973	\N	\N	EFO	4	EFO	disposition	Lentivirus Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001357	"Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." []	3181591	\N	\N	EFO	5	EFO	material property	Lentivirus Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001357	"Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." []	4389907	\N	\N	EFO	6	EFO	experimental factor	Lentivirus Infections
EFO:1001358	\N	\N	"A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy." []	EFO:1001358	"A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy." []	70943	\N	\N	EFO	0	EFO	Leprosy, Paucibacillary	Leprosy, Paucibacillary
EFO:0001054	EFO:1001358	\N	"A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid." []	EFO:1001358	"A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy." []	213472	\N	\N	EFO	1	EFO	leprosy	Leprosy, Paucibacillary
EFO:0000771	EFO:0001054	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001358	"A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy." []	567301	\N	\N	EFO	2	EFO	bacterial disease	Leprosy, Paucibacillary
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001358	"A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy." []	1148735	\N	\N	EFO	3	EFO	infectious disease	Leprosy, Paucibacillary
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001358	"A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy." []	2030974	\N	\N	EFO	4	EFO	disease	Leprosy, Paucibacillary
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001358	"A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy." []	3181592	\N	\N	EFO	5	EFO	disposition	Leprosy, Paucibacillary
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001358	"A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy." []	4389908	\N	\N	EFO	6	EFO	material property	Leprosy, Paucibacillary
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001358	"A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy." []	5409489	\N	\N	EFO	7	EFO	experimental factor	Leprosy, Paucibacillary
EFO:1001359	\N	\N	"Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection." []	EFO:1001359	"Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection." []	70944	\N	\N	EFO	0	EFO	Leukocyte-Adhesion Deficiency Syndrome	Leukocyte-Adhesion Deficiency Syndrome
EFO:0000508	EFO:1001359	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001359	"Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection." []	213473	\N	\N	EFO	1	EFO	genetic disorder	Leukocyte-Adhesion Deficiency Syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001359	"Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection." []	567302	\N	\N	EFO	2	EFO	disease	Leukocyte-Adhesion Deficiency Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001359	"Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection." []	1148736	\N	\N	EFO	3	EFO	disposition	Leukocyte-Adhesion Deficiency Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001359	"Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection." []	2030975	\N	\N	EFO	4	EFO	material property	Leukocyte-Adhesion Deficiency Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001359	"Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection." []	3181593	\N	\N	EFO	5	EFO	experimental factor	Leukocyte-Adhesion Deficiency Syndrome
EFO:1001360	\N	\N	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	70945	\N	\N	EFO	0	EFO	Leukoplakia, Hairy	Leukoplakia, Hairy
EFO:0003868	EFO:1001360	\N	"Tumors or cancer of the MOUTH." []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	213474	\N	\N	EFO	1	EFO	mouth neoplasm	Leukoplakia, Hairy
EFO:0005950	EFO:0003868	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	567303	\N	\N	EFO	2	EFO	head and neck neoplasia	Leukoplakia, Hairy
EFO:1001047	EFO:0003868	\N	"Any disease of the oral cavity" []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	567304	\N	\N	EFO	2	EFO	mouth disease	Leukoplakia, Hairy
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	1148737	\N	\N	EFO	3	EFO	head disease	Leukoplakia, Hairy
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	1148738	\N	\N	EFO	3	EFO	neoplasm	Leukoplakia, Hairy
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	1148739	\N	\N	EFO	3	EFO	digestive system disease	Leukoplakia, Hairy
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	1148740	\N	\N	EFO	3	EFO	head disease	Leukoplakia, Hairy
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	2030976	\N	\N	EFO	4	EFO	disease	Leukoplakia, Hairy
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	2030977	\N	\N	EFO	4	EFO	disease	Leukoplakia, Hairy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	2030978	\N	\N	EFO	4	EFO	disease	Leukoplakia, Hairy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	3181594	\N	\N	EFO	5	EFO	disposition	Leukoplakia, Hairy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	4389909	\N	\N	EFO	6	EFO	material property	Leukoplakia, Hairy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001360	"Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." []	5409490	\N	\N	EFO	7	EFO	experimental factor	Leukoplakia, Hairy
EFO:1001361	\N	\N	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	70946	\N	\N	EFO	0	EFO	localised scleroderma	localised scleroderma
EFO:0007374	EFO:1001361	\N	"A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	213475	\N	\N	EFO	1	EFO	mixed connective tissue disease	localised scleroderma
EFO:1001993	EFO:1001361	\N	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	213476	\N	\N	EFO	1	EFO	scleroderma	localised scleroderma
EFO:0005755	EFO:0007374	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	567305	\N	\N	EFO	2	EFO	rheumatic disease	localised scleroderma
Orphanet:98702	EFO:1001993	\N	"" []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	567306	\N	\N	EFO	2	EFO	Connective tissue disease with eye involvement	localised scleroderma
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	1148741	\N	\N	EFO	3	EFO	skeletal system disease	localised scleroderma
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	1148742	\N	\N	EFO	3	EFO	connective tissue disease	localised scleroderma
Orphanet:101435	Orphanet:98702	\N	"" []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	1148743	\N	\N	EFO	3	EFO	Rare genetic eye disease	localised scleroderma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	3181596	\N	\N	EFO	5	EFO	disease	localised scleroderma
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	2030980	\N	\N	EFO	4	EFO	skeletal system disease	localised scleroderma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	2030981	\N	\N	EFO	4	EFO	genetic disorder	localised scleroderma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	2030982	\N	\N	EFO	4	EFO	eye disease	localised scleroderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	4133117	\N	\N	EFO	6	EFO	disposition	localised scleroderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	3181597	\N	\N	EFO	5	EFO	disease	localised scleroderma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	3181598	\N	\N	EFO	5	EFO	disease	localised scleroderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	5181348	\N	\N	EFO	7	EFO	material property	localised scleroderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001361	"A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." []	5996765	\N	\N	EFO	8	EFO	experimental factor	localised scleroderma
EFO:1001362	\N	\N	"Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." []	EFO:1001362	"Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." []	70947	\N	\N	EFO	0	EFO	Lung Abscess	Lung Abscess
EFO:0003030	EFO:1001362	\N	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	EFO:1001362	"Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." []	213477	\N	\N	EFO	1	EFO	abscess	Lung Abscess
EFO:0003818	EFO:1001362	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001362	"Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." []	213478	\N	\N	EFO	1	EFO	lung disease	Lung Abscess
EFO:0000771	EFO:0003030	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001362	"Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." []	567307	\N	\N	EFO	2	EFO	bacterial disease	Lung Abscess
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001362	"Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." []	567308	\N	\N	EFO	2	EFO	respiratory system disease	Lung Abscess
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001362	"Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." []	1148744	\N	\N	EFO	3	EFO	infectious disease	Lung Abscess
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001362	"Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." []	1148745	\N	\N	EFO	3	EFO	disease	Lung Abscess
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001362	"Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." []	2030983	\N	\N	EFO	4	EFO	disease	Lung Abscess
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001362	"Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." []	3181599	\N	\N	EFO	5	EFO	disposition	Lung Abscess
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001362	"Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." []	4133118	\N	\N	EFO	6	EFO	material property	Lung Abscess
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001362	"Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." []	5181349	\N	\N	EFO	7	EFO	experimental factor	Lung Abscess
EFO:1001363	\N	\N	"Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders." []	EFO:1001363	"Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders." []	70948	\N	\N	EFO	0	EFO	Lupus Vasculitis, Central Nervous System	Lupus Vasculitis, Central Nervous System
EFO:0007364	EFO:1001363	\N	"A central nervous system disease that involves encephalitis which occurs along with meningitis." []	EFO:1001363	"Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders." []	213479	\N	\N	EFO	1	EFO	meningoencephalitis	Lupus Vasculitis, Central Nervous System
EFO:0000618	EFO:0007364	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001363	"Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders." []	567309	\N	\N	EFO	2	EFO	nervous system disease	Lupus Vasculitis, Central Nervous System
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001363	"Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders." []	1148746	\N	\N	EFO	3	EFO	disease	Lupus Vasculitis, Central Nervous System
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001363	"Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders." []	2030985	\N	\N	EFO	4	EFO	disposition	Lupus Vasculitis, Central Nervous System
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001363	"Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders." []	3181601	\N	\N	EFO	5	EFO	material property	Lupus Vasculitis, Central Nervous System
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001363	"Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders." []	4389912	\N	\N	EFO	6	EFO	experimental factor	Lupus Vasculitis, Central Nervous System
EFO:1001364	\N	\N	"Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system." []	EFO:1001364	"Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system." []	70949	\N	\N	EFO	0	EFO	Lymphatic Metastasis	Lymphatic Metastasis
EFO:0000616	EFO:1001364	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001364	"Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system." []	213480	\N	\N	EFO	1	EFO	neoplasm	Lymphatic Metastasis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001364	"Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system." []	567310	\N	\N	EFO	2	EFO	disease	Lymphatic Metastasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001364	"Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system." []	1148747	\N	\N	EFO	3	EFO	disposition	Lymphatic Metastasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001364	"Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system." []	2030986	\N	\N	EFO	4	EFO	material property	Lymphatic Metastasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001364	"Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system." []	3181602	\N	\N	EFO	5	EFO	experimental factor	Lymphatic Metastasis
EFO:1001365	\N	\N	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	EFO:1001365	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	70950	\N	\N	EFO	0	EFO	Lymphoma, AIDS-Related	Lymphoma, AIDS-Related
EFO:0005952	EFO:1001365	\N	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	EFO:1001365	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	213481	\N	\N	EFO	1	EFO	non-Hodgkins lymphoma	Lymphoma, AIDS-Related
EFO:0000574	EFO:0005952	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1001365	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	567311	\N	\N	EFO	2	EFO	lymphoma	Lymphoma, AIDS-Related
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001365	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	1148748	\N	\N	EFO	3	EFO	lymphoid neoplasm	Lymphoma, AIDS-Related
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001365	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	2030987	\N	\N	EFO	4	EFO	cancer	Lymphoma, AIDS-Related
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001365	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	2030988	\N	\N	EFO	4	EFO	hematological system disease	Lymphoma, AIDS-Related
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001365	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	3181603	\N	\N	EFO	5	EFO	neoplasm	Lymphoma, AIDS-Related
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001365	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	3181604	\N	\N	EFO	5	EFO	disease	Lymphoma, AIDS-Related
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001365	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	4389913	\N	\N	EFO	6	EFO	disease	Lymphoma, AIDS-Related
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001365	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	5409492	\N	\N	EFO	7	EFO	disposition	Lymphoma, AIDS-Related
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001365	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	5996766	\N	\N	EFO	8	EFO	material property	Lymphoma, AIDS-Related
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001365	"B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." []	6550418	\N	\N	EFO	9	EFO	experimental factor	Lymphoma, AIDS-Related
EFO:1001366	\N	\N	"Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating." []	EFO:1001366	"Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating." []	70951	\N	\N	EFO	0	EFO	Mastodynia	Mastodynia
EFO:0003843	EFO:1001366	\N	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	EFO:1001366	"Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating." []	213482	\N	\N	EFO	1	EFO	pain	Mastodynia
EFO:0003765	EFO:0003843	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:1001366	"Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating." []	567312	\N	\N	EFO	2	EFO	sign or symptom	Mastodynia
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:1001366	"Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating." []	1148749	\N	\N	EFO	3	EFO	phenotype	Mastodynia
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:1001366	"Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating." []	2030989	\N	\N	EFO	4	EFO	quality	Mastodynia
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001366	"Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating." []	3181605	\N	\N	EFO	5	EFO	material property	Mastodynia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001366	"Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating." []	4389915	\N	\N	EFO	6	EFO	experimental factor	Mastodynia
EFO:1001367	\N	\N	"SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity." []	EFO:1001367	"SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity." []	70952	\N	\N	EFO	0	EFO	Medial Tibial Stress Syndrome	Medial Tibial Stress Syndrome
EFO:0002970	EFO:1001367	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1001367	"SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity." []	213483	\N	\N	EFO	1	EFO	muscular disease	Medial Tibial Stress Syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1001367	"SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity." []	567313	\N	\N	EFO	2	EFO	skeletal system disease	Medial Tibial Stress Syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001367	"SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity." []	1148750	\N	\N	EFO	3	EFO	disease	Medial Tibial Stress Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001367	"SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity." []	2030990	\N	\N	EFO	4	EFO	disposition	Medial Tibial Stress Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001367	"SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity." []	3181606	\N	\N	EFO	5	EFO	material property	Medial Tibial Stress Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001367	"SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity." []	4389916	\N	\N	EFO	6	EFO	experimental factor	Medial Tibial Stress Syndrome
EFO:1001368	\N	\N	"Cysts of one of the parts of the mediastinum: the superior part, containing the trachea, esophagus, thoracic duct and thymus organs; the inferior middle part, containing the pericardium; the inferior anterior part containing some lymph nodes; and the inferior posterior part, containing the thoracic duct and esophagus." []	EFO:1001368	"Cysts of one of the parts of the mediastinum: the superior part, containing the trachea, esophagus, thoracic duct and thymus organs; the inferior middle part, containing the pericardium; the inferior anterior part containing some lymph nodes; and the inferior posterior part, containing the thoracic duct and esophagus." []	70953	\N	\N	EFO	0	EFO	Mediastinal Cyst	Mediastinal Cyst
EFO:0000616	EFO:1001368	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001368	"Cysts of one of the parts of the mediastinum: the superior part, containing the trachea, esophagus, thoracic duct and thymus organs; the inferior middle part, containing the pericardium; the inferior anterior part containing some lymph nodes; and the inferior posterior part, containing the thoracic duct and esophagus." []	213484	\N	\N	EFO	1	EFO	neoplasm	Mediastinal Cyst
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001368	"Cysts of one of the parts of the mediastinum: the superior part, containing the trachea, esophagus, thoracic duct and thymus organs; the inferior middle part, containing the pericardium; the inferior anterior part containing some lymph nodes; and the inferior posterior part, containing the thoracic duct and esophagus." []	567314	\N	\N	EFO	2	EFO	disease	Mediastinal Cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001368	"Cysts of one of the parts of the mediastinum: the superior part, containing the trachea, esophagus, thoracic duct and thymus organs; the inferior middle part, containing the pericardium; the inferior anterior part containing some lymph nodes; and the inferior posterior part, containing the thoracic duct and esophagus." []	1148751	\N	\N	EFO	3	EFO	disposition	Mediastinal Cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001368	"Cysts of one of the parts of the mediastinum: the superior part, containing the trachea, esophagus, thoracic duct and thymus organs; the inferior middle part, containing the pericardium; the inferior anterior part containing some lymph nodes; and the inferior posterior part, containing the thoracic duct and esophagus." []	2030991	\N	\N	EFO	4	EFO	material property	Mediastinal Cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001368	"Cysts of one of the parts of the mediastinum: the superior part, containing the trachea, esophagus, thoracic duct and thymus organs; the inferior middle part, containing the pericardium; the inferior anterior part containing some lymph nodes; and the inferior posterior part, containing the thoracic duct and esophagus." []	3181607	\N	\N	EFO	5	EFO	experimental factor	Mediastinal Cyst
EFO:1001369	\N	\N	"Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)" []	EFO:1001369	"Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)" []	70954	\N	\N	EFO	0	EFO	Meningomyelocele	Meningomyelocele
EFO:0005774	EFO:1001369	\N	"A disease affecting the brain or part of the brain." []	EFO:1001369	"Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)" []	213485	\N	\N	EFO	1	EFO	brain disease	Meningomyelocele
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001369	"Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)" []	567315	\N	\N	EFO	2	EFO	nervous system disease	Meningomyelocele
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001369	"Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)" []	1148752	\N	\N	EFO	3	EFO	disease	Meningomyelocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001369	"Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)" []	2030992	\N	\N	EFO	4	EFO	disposition	Meningomyelocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001369	"Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)" []	3181608	\N	\N	EFO	5	EFO	material property	Meningomyelocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001369	"Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)" []	4389917	\N	\N	EFO	6	EFO	experimental factor	Meningomyelocele
EFO:1001370	\N	\N	"Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS)." []	EFO:1001370	"Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS)." []	70955	\N	\N	EFO	0	EFO	Metatarsalgia	Metatarsalgia
EFO:0003843	EFO:1001370	\N	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	EFO:1001370	"Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS)." []	213486	\N	\N	EFO	1	EFO	pain	Metatarsalgia
EFO:0003765	EFO:0003843	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:1001370	"Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS)." []	567316	\N	\N	EFO	2	EFO	sign or symptom	Metatarsalgia
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:1001370	"Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS)." []	1148753	\N	\N	EFO	3	EFO	phenotype	Metatarsalgia
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:1001370	"Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS)." []	2030993	\N	\N	EFO	4	EFO	quality	Metatarsalgia
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001370	"Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS)." []	3181609	\N	\N	EFO	5	EFO	material property	Metatarsalgia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001370	"Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS)." []	4389918	\N	\N	EFO	6	EFO	experimental factor	Metatarsalgia
EFO:1001371	\N	\N	"A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" []	EFO:1001371	"A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" []	70956	\N	\N	EFO	0	EFO	Mixed Tumor, Mesodermal	Mixed Tumor, Mesodermal
EFO:0007373	EFO:1001371	\N	"A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." []	EFO:1001371	"A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" []	213487	\N	\N	EFO	1	EFO	mixed cell type cancer	Mixed Tumor, Mesodermal
EFO:0000313	EFO:0007373	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001371	"A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" []	567317	\N	\N	EFO	2	EFO	carcinoma	Mixed Tumor, Mesodermal
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001371	"A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" []	1148754	\N	\N	EFO	3	EFO	cancer	Mixed Tumor, Mesodermal
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001371	"A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" []	1148755	\N	\N	EFO	3	EFO	epithelial neoplasm	Mixed Tumor, Mesodermal
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001371	"A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" []	2030994	\N	\N	EFO	4	EFO	neoplasm	Mixed Tumor, Mesodermal
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001371	"A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" []	2030995	\N	\N	EFO	4	EFO	neoplasm	Mixed Tumor, Mesodermal
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001371	"A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" []	3181610	\N	\N	EFO	5	EFO	disease	Mixed Tumor, Mesodermal
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001371	"A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" []	4389919	\N	\N	EFO	6	EFO	disposition	Mixed Tumor, Mesodermal
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001371	"A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" []	5409494	\N	\N	EFO	7	EFO	material property	Mixed Tumor, Mesodermal
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001371	"A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" []	6147668	\N	\N	EFO	8	EFO	experimental factor	Mixed Tumor, Mesodermal
EFO:1001372	\N	\N	"Infection of ruminants with tapeworms of the genus Moniezia." []	EFO:1001372	"Infection of ruminants with tapeworms of the genus Moniezia." []	70957	\N	\N	EFO	0	EFO	Monieziasis	Monieziasis
EFO:0005741	EFO:1001372	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001372	"Infection of ruminants with tapeworms of the genus Moniezia." []	213488	\N	\N	EFO	1	EFO	infectious disease	Monieziasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001372	"Infection of ruminants with tapeworms of the genus Moniezia." []	567318	\N	\N	EFO	2	EFO	disease	Monieziasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001372	"Infection of ruminants with tapeworms of the genus Moniezia." []	1148756	\N	\N	EFO	3	EFO	disposition	Monieziasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001372	"Infection of ruminants with tapeworms of the genus Moniezia." []	2030996	\N	\N	EFO	4	EFO	material property	Monieziasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001372	"Infection of ruminants with tapeworms of the genus Moniezia." []	3181611	\N	\N	EFO	5	EFO	experimental factor	Monieziasis
EFO:1001373	\N	\N	"A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative." []	EFO:1001373	"A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative." []	70958	\N	\N	EFO	0	EFO	Multiple Organ Failure	Multiple Organ Failure
EFO:0000408	EFO:1001373	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001373	"A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative." []	213489	\N	\N	EFO	1	EFO	disease	Multiple Organ Failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001373	"A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative." []	567319	\N	\N	EFO	2	EFO	disposition	Multiple Organ Failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001373	"A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative." []	1148757	\N	\N	EFO	3	EFO	material property	Multiple Organ Failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001373	"A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative." []	2030997	\N	\N	EFO	4	EFO	experimental factor	Multiple Organ Failure
EFO:1001374	\N	\N	"Infections with bacteria of the order MYCOPLASMATALES." []	EFO:1001374	"Infections with bacteria of the order MYCOPLASMATALES." []	70959	\N	\N	EFO	0	EFO	Mycoplasmatales Infections	Mycoplasmatales Infections
EFO:0000771	EFO:1001374	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001374	"Infections with bacteria of the order MYCOPLASMATALES." []	213490	\N	\N	EFO	1	EFO	bacterial disease	Mycoplasmatales Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001374	"Infections with bacteria of the order MYCOPLASMATALES." []	567320	\N	\N	EFO	2	EFO	infectious disease	Mycoplasmatales Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001374	"Infections with bacteria of the order MYCOPLASMATALES." []	1148758	\N	\N	EFO	3	EFO	disease	Mycoplasmatales Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001374	"Infections with bacteria of the order MYCOPLASMATALES." []	2030998	\N	\N	EFO	4	EFO	disposition	Mycoplasmatales Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001374	"Infections with bacteria of the order MYCOPLASMATALES." []	3181612	\N	\N	EFO	5	EFO	material property	Mycoplasmatales Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001374	"Infections with bacteria of the order MYCOPLASMATALES." []	4389920	\N	\N	EFO	6	EFO	experimental factor	Mycoplasmatales Infections
EFO:1001375	\N	\N	"A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." []	EFO:1001375	"A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." []	70960	\N	\N	EFO	0	EFO	Myocardial Ischemia	Myocardial Ischemia
EFO:0001645	EFO:1001375	\N	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	EFO:1001375	"A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." []	213491	\N	\N	EFO	1	EFO	coronary heart disease	Myocardial Ischemia
EFO:0003777	EFO:0001645	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001375	"A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." []	567321	\N	\N	EFO	2	EFO	heart disease	Myocardial Ischemia
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001375	"A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." []	1148759	\N	\N	EFO	3	EFO	cardiovascular disease	Myocardial Ischemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001375	"A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." []	2030999	\N	\N	EFO	4	EFO	disease	Myocardial Ischemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001375	"A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." []	3181613	\N	\N	EFO	5	EFO	disposition	Myocardial Ischemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001375	"A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." []	4389921	\N	\N	EFO	6	EFO	material property	Myocardial Ischemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001375	"A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." []	5409495	\N	\N	EFO	7	EFO	experimental factor	Myocardial Ischemia
EFO:1001376	\N	\N	"A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement." []	EFO:1001376	"A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement." []	70961	\N	\N	EFO	0	EFO	Necrobiotic Xanthogranuloma	Necrobiotic Xanthogranuloma
EFO:0000701	EFO:1001376	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001376	"A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement." []	213492	\N	\N	EFO	1	EFO	skin disease	Necrobiotic Xanthogranuloma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001376	"A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement." []	567322	\N	\N	EFO	2	EFO	disease	Necrobiotic Xanthogranuloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001376	"A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement." []	1148760	\N	\N	EFO	3	EFO	disposition	Necrobiotic Xanthogranuloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001376	"A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement." []	2031000	\N	\N	EFO	4	EFO	material property	Necrobiotic Xanthogranuloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001376	"A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement." []	3181614	\N	\N	EFO	5	EFO	experimental factor	Necrobiotic Xanthogranuloma
EFO:1001377	\N	\N	"Infections with bacteria of the family NEISSERIACEAE." []	EFO:1001377	"Infections with bacteria of the family NEISSERIACEAE." []	70962	\N	\N	EFO	0	EFO	Neisseriaceae Infections	Neisseriaceae Infections
EFO:0000771	EFO:1001377	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001377	"Infections with bacteria of the family NEISSERIACEAE." []	213493	\N	\N	EFO	1	EFO	bacterial disease	Neisseriaceae Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001377	"Infections with bacteria of the family NEISSERIACEAE." []	567323	\N	\N	EFO	2	EFO	infectious disease	Neisseriaceae Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001377	"Infections with bacteria of the family NEISSERIACEAE." []	1148761	\N	\N	EFO	3	EFO	disease	Neisseriaceae Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001377	"Infections with bacteria of the family NEISSERIACEAE." []	2031001	\N	\N	EFO	4	EFO	disposition	Neisseriaceae Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001377	"Infections with bacteria of the family NEISSERIACEAE." []	3181615	\N	\N	EFO	5	EFO	material property	Neisseriaceae Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001377	"Infections with bacteria of the family NEISSERIACEAE." []	4389922	\N	\N	EFO	6	EFO	experimental factor	Neisseriaceae Infections
EFO:1001378	\N	\N	"Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" []	EFO:1001378	"Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" []	70963	\N	\N	EFO	0	EFO	neurogenic arthropathy	neurogenic arthropathy
EFO:1000999	EFO:1001378	\N	"Any disorder of the joints" []	EFO:1001378	"Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" []	213494	\N	\N	EFO	1	EFO	joint disease	neurogenic arthropathy
EFO:0002461	EFO:1000999	\N	"Any disease which affects part of the skeletal system." []	EFO:1001378	"Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" []	567324	\N	\N	EFO	2	EFO	skeletal system disease	neurogenic arthropathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001378	"Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" []	1148762	\N	\N	EFO	3	EFO	disease	neurogenic arthropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001378	"Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" []	2031002	\N	\N	EFO	4	EFO	disposition	neurogenic arthropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001378	"Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" []	3181616	\N	\N	EFO	5	EFO	material property	neurogenic arthropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001378	"Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" []	4389923	\N	\N	EFO	6	EFO	experimental factor	neurogenic arthropathy
EFO:1001379	\N	\N	"A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)" []	EFO:1001379	"A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)" []	70964	\N	\N	EFO	0	EFO	neuroleptic malignant syndrome	neuroleptic malignant syndrome
EFO:0000618	EFO:1001379	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001379	"A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)" []	213495	\N	\N	EFO	1	EFO	nervous system disease	neuroleptic malignant syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001379	"A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)" []	567325	\N	\N	EFO	2	EFO	disease	neuroleptic malignant syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001379	"A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)" []	1148763	\N	\N	EFO	3	EFO	disposition	neuroleptic malignant syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001379	"A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)" []	2031003	\N	\N	EFO	4	EFO	material property	neuroleptic malignant syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001379	"A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)" []	3181617	\N	\N	EFO	5	EFO	experimental factor	neuroleptic malignant syndrome
EFO:1001380	\N	\N	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	EFO:1001380	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	70965	\N	\N	EFO	0	EFO	Niemann-Pick disease	Niemann-Pick disease
EFO:0000616	EFO:1001380	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001380	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	213496	\N	\N	EFO	1	EFO	neoplasm	Niemann-Pick disease
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001380	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	567326	\N	\N	EFO	2	EFO	disease	Niemann-Pick disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001380	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	1148764	\N	\N	EFO	3	EFO	disposition	Niemann-Pick disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001380	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	2031004	\N	\N	EFO	4	EFO	material property	Niemann-Pick disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001380	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	3181618	\N	\N	EFO	5	EFO	experimental factor	Niemann-Pick disease
EFO:1001381	\N	\N	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	70966	\N	\N	EFO	0	EFO	Nocturnal Paroxysmal Dystonia	Nocturnal Paroxysmal Dystonia
Orphanet:200037	EFO:1001381	\N	"" []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	213497	\N	\N	EFO	1	EFO	Paroxysmal dystonia	Nocturnal Paroxysmal Dystonia
Orphanet:306768	Orphanet:200037	\N	"" []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	567327	\N	\N	EFO	2	EFO	Rare paroxysmal movement disorder	Nocturnal Paroxysmal Dystonia
Orphanet:98203	Orphanet:200037	\N	"" []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	567328	\N	\N	EFO	2	EFO	Combined dystonia	Nocturnal Paroxysmal Dystonia
Orphanet:183521	Orphanet:306768	\N	"" []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	1148765	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Nocturnal Paroxysmal Dystonia
Orphanet:391799	Orphanet:98203	\N	"" []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	1148766	\N	\N	EFO	3	EFO	Rare genetic dystonia	Nocturnal Paroxysmal Dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	3181621	\N	\N	EFO	5	EFO	movement disorder	Nocturnal Paroxysmal Dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	3181622	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Nocturnal Paroxysmal Dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	2031007	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Nocturnal Paroxysmal Dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	4133119	\N	\N	EFO	6	EFO	nervous system disease	Nocturnal Paroxysmal Dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	4133120	\N	\N	EFO	6	EFO	genetic disorder	Nocturnal Paroxysmal Dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	5181350	\N	\N	EFO	7	EFO	disease	Nocturnal Paroxysmal Dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	5181351	\N	\N	EFO	7	EFO	disease	Nocturnal Paroxysmal Dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	5996767	\N	\N	EFO	8	EFO	disposition	Nocturnal Paroxysmal Dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	6550419	\N	\N	EFO	9	EFO	material property	Nocturnal Paroxysmal Dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001381	"A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" []	6888985	\N	\N	EFO	10	EFO	experimental factor	Nocturnal Paroxysmal Dystonia
EFO:1001382	\N	\N	"HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately." []	EFO:1001382	"HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately." []	70967	\N	\N	EFO	0	EFO	Obesity Hypoventilation Syndrome	Obesity Hypoventilation Syndrome
EFO:0000684	EFO:1001382	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001382	"HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately." []	213498	\N	\N	EFO	1	EFO	respiratory system disease	Obesity Hypoventilation Syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001382	"HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately." []	567329	\N	\N	EFO	2	EFO	disease	Obesity Hypoventilation Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001382	"HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately." []	1148767	\N	\N	EFO	3	EFO	disposition	Obesity Hypoventilation Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001382	"HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately." []	2031008	\N	\N	EFO	4	EFO	material property	Obesity Hypoventilation Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001382	"HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately." []	3181623	\N	\N	EFO	5	EFO	experimental factor	Obesity Hypoventilation Syndrome
EFO:1001383	\N	\N	"A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system." []	EFO:1001383	"A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system." []	70968	\N	\N	EFO	0	EFO	Opsoclonus-Myoclonus Syndrome	Opsoclonus-Myoclonus Syndrome
EFO:0003966	EFO:1001383	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001383	"A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system." []	213499	\N	\N	EFO	1	EFO	eye disease	Opsoclonus-Myoclonus Syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001383	"A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system." []	567330	\N	\N	EFO	2	EFO	disease	Opsoclonus-Myoclonus Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001383	"A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system." []	1148768	\N	\N	EFO	3	EFO	disposition	Opsoclonus-Myoclonus Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001383	"A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system." []	2031009	\N	\N	EFO	4	EFO	material property	Opsoclonus-Myoclonus Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001383	"A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system." []	3181624	\N	\N	EFO	5	EFO	experimental factor	Opsoclonus-Myoclonus Syndrome
EFO:1001384	\N	\N	"INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS." []	EFO:1001384	"INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS." []	70969	\N	\N	EFO	0	EFO	Panniculitis, Peritoneal	Panniculitis, Peritoneal
EFO:1000746	EFO:1001384	\N	"a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue." []	EFO:1001384	"INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS." []	213500	\N	\N	EFO	1	EFO	panniculitis	Panniculitis, Peritoneal
EFO:0000701	EFO:1000746	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001384	"INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS." []	567331	\N	\N	EFO	2	EFO	skin disease	Panniculitis, Peritoneal
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001384	"INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS." []	1148769	\N	\N	EFO	3	EFO	disease	Panniculitis, Peritoneal
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001384	"INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS." []	2031010	\N	\N	EFO	4	EFO	disposition	Panniculitis, Peritoneal
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001384	"INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS." []	3181625	\N	\N	EFO	5	EFO	material property	Panniculitis, Peritoneal
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001384	"INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS." []	4389926	\N	\N	EFO	6	EFO	experimental factor	Panniculitis, Peritoneal
EFO:1001385	\N	\N	"Paralysis of an infant resulting from injury received at birth. (From Dorland, 27th ed)" []	EFO:1001385	"Paralysis of an infant resulting from injury received at birth. (From Dorland, 27th ed)" []	70970	\N	\N	EFO	0	EFO	Paralysis, Obstetric	Paralysis, Obstetric
EFO:0000618	EFO:1001385	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001385	"Paralysis of an infant resulting from injury received at birth. (From Dorland, 27th ed)" []	213501	\N	\N	EFO	1	EFO	nervous system disease	Paralysis, Obstetric
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001385	"Paralysis of an infant resulting from injury received at birth. (From Dorland, 27th ed)" []	567332	\N	\N	EFO	2	EFO	disease	Paralysis, Obstetric
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001385	"Paralysis of an infant resulting from injury received at birth. (From Dorland, 27th ed)" []	1148770	\N	\N	EFO	3	EFO	disposition	Paralysis, Obstetric
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001385	"Paralysis of an infant resulting from injury received at birth. (From Dorland, 27th ed)" []	2031011	\N	\N	EFO	4	EFO	material property	Paralysis, Obstetric
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001385	"Paralysis of an infant resulting from injury received at birth. (From Dorland, 27th ed)" []	3181626	\N	\N	EFO	5	EFO	experimental factor	Paralysis, Obstetric
EFO:1001386	\N	\N	"Infections with bacteria of the family PASTEURELLACEAE." []	EFO:1001386	"Infections with bacteria of the family PASTEURELLACEAE." []	70971	\N	\N	EFO	0	EFO	Pasteurellaceae Infections	Pasteurellaceae Infections
EFO:0000771	EFO:1001386	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001386	"Infections with bacteria of the family PASTEURELLACEAE." []	213502	\N	\N	EFO	1	EFO	bacterial disease	Pasteurellaceae Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001386	"Infections with bacteria of the family PASTEURELLACEAE." []	567333	\N	\N	EFO	2	EFO	infectious disease	Pasteurellaceae Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001386	"Infections with bacteria of the family PASTEURELLACEAE." []	1148771	\N	\N	EFO	3	EFO	disease	Pasteurellaceae Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001386	"Infections with bacteria of the family PASTEURELLACEAE." []	2031012	\N	\N	EFO	4	EFO	disposition	Pasteurellaceae Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001386	"Infections with bacteria of the family PASTEURELLACEAE." []	3181627	\N	\N	EFO	5	EFO	material property	Pasteurellaceae Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001386	"Infections with bacteria of the family PASTEURELLACEAE." []	4389927	\N	\N	EFO	6	EFO	experimental factor	Pasteurellaceae Infections
EFO:1001387	\N	\N	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	EFO:1001387	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	70972	\N	\N	EFO	0	EFO	Peliosis Hepatis	Peliosis Hepatis
EFO:0001421	EFO:1001387	\N	"Pathological processes of the LIVER." []	EFO:1001387	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	213503	\N	\N	EFO	1	EFO	liver disease	Peliosis Hepatis
EFO:0004264	EFO:1001387	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001387	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	213504	\N	\N	EFO	1	EFO	vascular disease	Peliosis Hepatis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001387	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	567334	\N	\N	EFO	2	EFO	digestive system disease	Peliosis Hepatis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001387	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	567335	\N	\N	EFO	2	EFO	endocrine system disease	Peliosis Hepatis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001387	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	567336	\N	\N	EFO	2	EFO	cardiovascular disease	Peliosis Hepatis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001387	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	1148772	\N	\N	EFO	3	EFO	disease	Peliosis Hepatis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001387	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	1148773	\N	\N	EFO	3	EFO	disease	Peliosis Hepatis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001387	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	1148774	\N	\N	EFO	3	EFO	disease	Peliosis Hepatis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001387	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	2031013	\N	\N	EFO	4	EFO	disposition	Peliosis Hepatis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001387	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	3181628	\N	\N	EFO	5	EFO	material property	Peliosis Hepatis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001387	"A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." []	4389928	\N	\N	EFO	6	EFO	experimental factor	Peliosis Hepatis
EFO:1001388	\N	\N	"A spectrum of inflammation involving the female upper genital tract and the supporting tissues. It is usually caused by an ascending infection of organisms from the endocervix. Infection may be confined to the uterus (ENDOMETRITIS), the FALLOPIAN TUBES; (SALPINGITIS); the ovaries (OOPHORITIS), the supporting ligaments (PARAMETRITIS), or may involve several of the above uterine appendages. Such inflammation can lead to functional impairment and infertility." []	EFO:1001388	"A spectrum of inflammation involving the female upper genital tract and the supporting tissues. It is usually caused by an ascending infection of organisms from the endocervix. Infection may be confined to the uterus (ENDOMETRITIS), the FALLOPIAN TUBES; (SALPINGITIS); the ovaries (OOPHORITIS), the supporting ligaments (PARAMETRITIS), or may involve several of the above uterine appendages. Such inflammation can lead to functional impairment and infertility." []	70973	\N	\N	EFO	0	EFO	Pelvic Inflammatory Disease	Pelvic Inflammatory Disease
EFO:0000512	EFO:1001388	\N	"any diease of the reproductive system" []	EFO:1001388	"A spectrum of inflammation involving the female upper genital tract and the supporting tissues. It is usually caused by an ascending infection of organisms from the endocervix. Infection may be confined to the uterus (ENDOMETRITIS), the FALLOPIAN TUBES; (SALPINGITIS); the ovaries (OOPHORITIS), the supporting ligaments (PARAMETRITIS), or may involve several of the above uterine appendages. Such inflammation can lead to functional impairment and infertility." []	213505	\N	\N	EFO	1	EFO	reproductive system disease	Pelvic Inflammatory Disease
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001388	"A spectrum of inflammation involving the female upper genital tract and the supporting tissues. It is usually caused by an ascending infection of organisms from the endocervix. Infection may be confined to the uterus (ENDOMETRITIS), the FALLOPIAN TUBES; (SALPINGITIS); the ovaries (OOPHORITIS), the supporting ligaments (PARAMETRITIS), or may involve several of the above uterine appendages. Such inflammation can lead to functional impairment and infertility." []	567337	\N	\N	EFO	2	EFO	disease	Pelvic Inflammatory Disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001388	"A spectrum of inflammation involving the female upper genital tract and the supporting tissues. It is usually caused by an ascending infection of organisms from the endocervix. Infection may be confined to the uterus (ENDOMETRITIS), the FALLOPIAN TUBES; (SALPINGITIS); the ovaries (OOPHORITIS), the supporting ligaments (PARAMETRITIS), or may involve several of the above uterine appendages. Such inflammation can lead to functional impairment and infertility." []	1148775	\N	\N	EFO	3	EFO	disposition	Pelvic Inflammatory Disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001388	"A spectrum of inflammation involving the female upper genital tract and the supporting tissues. It is usually caused by an ascending infection of organisms from the endocervix. Infection may be confined to the uterus (ENDOMETRITIS), the FALLOPIAN TUBES; (SALPINGITIS); the ovaries (OOPHORITIS), the supporting ligaments (PARAMETRITIS), or may involve several of the above uterine appendages. Such inflammation can lead to functional impairment and infertility." []	2031014	\N	\N	EFO	4	EFO	material property	Pelvic Inflammatory Disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001388	"A spectrum of inflammation involving the female upper genital tract and the supporting tissues. It is usually caused by an ascending infection of organisms from the endocervix. Infection may be confined to the uterus (ENDOMETRITIS), the FALLOPIAN TUBES; (SALPINGITIS); the ovaries (OOPHORITIS), the supporting ligaments (PARAMETRITIS), or may involve several of the above uterine appendages. Such inflammation can lead to functional impairment and infertility." []	3181629	\N	\N	EFO	5	EFO	experimental factor	Pelvic Inflammatory Disease
EFO:1001389	\N	\N	"Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY." []	EFO:1001389	"Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY." []	70974	\N	\N	EFO	0	EFO	Peptic ulcer perforation	Peptic ulcer perforation
EFO:0000405	EFO:1001389	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001389	"Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY." []	213506	\N	\N	EFO	1	EFO	digestive system disease	Peptic ulcer perforation
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001389	"Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY." []	567338	\N	\N	EFO	2	EFO	disease	Peptic ulcer perforation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001389	"Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY." []	1148776	\N	\N	EFO	3	EFO	disposition	Peptic ulcer perforation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001389	"Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY." []	2031015	\N	\N	EFO	4	EFO	material property	Peptic ulcer perforation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001389	"Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY." []	3181630	\N	\N	EFO	5	EFO	experimental factor	Peptic ulcer perforation
EFO:1001390	\N	\N	"An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." []	EFO:1001390	"An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." []	70975	\N	\N	EFO	0	EFO	Peri-Implantitis	Peri-Implantitis
EFO:1001047	EFO:1001390	\N	"Any disease of the oral cavity" []	EFO:1001390	"An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." []	213507	\N	\N	EFO	1	EFO	mouth disease	Peri-Implantitis
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001390	"An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." []	567339	\N	\N	EFO	2	EFO	digestive system disease	Peri-Implantitis
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001390	"An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." []	567340	\N	\N	EFO	2	EFO	head disease	Peri-Implantitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001390	"An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." []	1148777	\N	\N	EFO	3	EFO	disease	Peri-Implantitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001390	"An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." []	1148778	\N	\N	EFO	3	EFO	disease	Peri-Implantitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001390	"An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." []	2031016	\N	\N	EFO	4	EFO	disposition	Peri-Implantitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001390	"An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." []	3181631	\N	\N	EFO	5	EFO	material property	Peri-Implantitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001390	"An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." []	4389929	\N	\N	EFO	6	EFO	experimental factor	Peri-Implantitis
EFO:1001391	\N	\N	"Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS." []	EFO:1001391	"Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS." []	70976	\N	\N	EFO	0	EFO	Periapical Periodontitis	Periapical Periodontitis
EFO:0000649	EFO:1001391	\N	"Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" []	EFO:1001391	"Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS." []	213508	\N	\N	EFO	1	EFO	periodontitis	Periapical Periodontitis
EFO:0000524	EFO:0000649	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001391	"Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS." []	567341	\N	\N	EFO	2	EFO	head disease	Periapical Periodontitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001391	"Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS." []	1148779	\N	\N	EFO	3	EFO	disease	Periapical Periodontitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001391	"Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS." []	2031017	\N	\N	EFO	4	EFO	disposition	Periapical Periodontitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001391	"Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS." []	3181632	\N	\N	EFO	5	EFO	material property	Periapical Periodontitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001391	"Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS." []	4389930	\N	\N	EFO	6	EFO	experimental factor	Periapical Periodontitis
EFO:1001392	\N	\N	"Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord." []	EFO:1001392	"Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord." []	70977	\N	\N	EFO	0	EFO	Perimeningeal Infections	Perimeningeal Infections
EFO:0000618	EFO:1001392	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001392	"Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord." []	213509	\N	\N	EFO	1	EFO	nervous system disease	Perimeningeal Infections
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001392	"Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord." []	567342	\N	\N	EFO	2	EFO	disease	Perimeningeal Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001392	"Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord." []	1148780	\N	\N	EFO	3	EFO	disposition	Perimeningeal Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001392	"Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord." []	2031018	\N	\N	EFO	4	EFO	material property	Perimeningeal Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001392	"Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord." []	3181633	\N	\N	EFO	5	EFO	experimental factor	Perimeningeal Infections
EFO:1001393	\N	\N	"An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." []	EFO:1001393	"An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." []	70978	\N	\N	EFO	0	EFO	Periodontal Pocket	Periodontal Pocket
EFO:1001047	EFO:1001393	\N	"Any disease of the oral cavity" []	EFO:1001393	"An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." []	213510	\N	\N	EFO	1	EFO	mouth disease	Periodontal Pocket
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001393	"An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." []	567343	\N	\N	EFO	2	EFO	digestive system disease	Periodontal Pocket
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001393	"An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." []	567344	\N	\N	EFO	2	EFO	head disease	Periodontal Pocket
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001393	"An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." []	1148781	\N	\N	EFO	3	EFO	disease	Periodontal Pocket
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001393	"An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." []	1148782	\N	\N	EFO	3	EFO	disease	Periodontal Pocket
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001393	"An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." []	2031019	\N	\N	EFO	4	EFO	disposition	Periodontal Pocket
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001393	"An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." []	3181634	\N	\N	EFO	5	EFO	material property	Periodontal Pocket
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001393	"An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." []	4389931	\N	\N	EFO	6	EFO	experimental factor	Periodontal Pocket
EFO:1001394	\N	\N	"Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." []	EFO:1001394	"Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." []	70979	\N	\N	EFO	0	EFO	Peritoneal Fibrosis	Peritoneal Fibrosis
EFO:0000405	EFO:1001394	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001394	"Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." []	213511	\N	\N	EFO	1	EFO	digestive system disease	Peritoneal Fibrosis
EFO:0006890	EFO:1001394	\N	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	EFO:1001394	"Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." []	213512	\N	\N	EFO	1	EFO	fibrosis	Peritoneal Fibrosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001394	"Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." []	567345	\N	\N	EFO	2	EFO	disease	Peritoneal Fibrosis
EFO:0000616	EFO:0006890	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001394	"Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." []	567346	\N	\N	EFO	2	EFO	neoplasm	Peritoneal Fibrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001394	"Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." []	2031021	\N	\N	EFO	4	EFO	disposition	Peritoneal Fibrosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001394	"Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." []	1148784	\N	\N	EFO	3	EFO	disease	Peritoneal Fibrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001394	"Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." []	3000087	\N	\N	EFO	5	EFO	material property	Peritoneal Fibrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001394	"Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." []	4133121	\N	\N	EFO	6	EFO	experimental factor	Peritoneal Fibrosis
EFO:1001395	\N	\N	"Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." []	EFO:1001395	"Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." []	70980	\N	\N	EFO	0	EFO	Phlebitis	Phlebitis
EFO:0004264	EFO:1001395	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001395	"Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." []	213513	\N	\N	EFO	1	EFO	vascular disease	Phlebitis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001395	"Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." []	567347	\N	\N	EFO	2	EFO	cardiovascular disease	Phlebitis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001395	"Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." []	1148785	\N	\N	EFO	3	EFO	disease	Phlebitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001395	"Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." []	2031022	\N	\N	EFO	4	EFO	disposition	Phlebitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001395	"Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." []	3181636	\N	\N	EFO	5	EFO	material property	Phlebitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001395	"Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." []	4389932	\N	\N	EFO	6	EFO	experimental factor	Phlebitis
EFO:1001396	\N	\N	"An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact." []	EFO:1001396	"An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact." []	70981	\N	\N	EFO	0	EFO	Pinta	Pinta
EFO:0000701	EFO:1001396	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001396	"An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact." []	213514	\N	\N	EFO	1	EFO	skin disease	Pinta
EFO:0005741	EFO:1001396	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001396	"An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact." []	213515	\N	\N	EFO	1	EFO	infectious disease	Pinta
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001396	"An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact." []	567348	\N	\N	EFO	2	EFO	disease	Pinta
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001396	"An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact." []	567349	\N	\N	EFO	2	EFO	disease	Pinta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001396	"An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact." []	1148786	\N	\N	EFO	3	EFO	disposition	Pinta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001396	"An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact." []	2031023	\N	\N	EFO	4	EFO	material property	Pinta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001396	"An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact." []	3181637	\N	\N	EFO	5	EFO	experimental factor	Pinta
EFO:1001397	\N	\N	"Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish." []	EFO:1001397	"Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish." []	70982	\N	\N	EFO	0	EFO	Piscirickettsiaceae Infections	Piscirickettsiaceae Infections
EFO:0000771	EFO:1001397	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001397	"Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish." []	213516	\N	\N	EFO	1	EFO	bacterial disease	Piscirickettsiaceae Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001397	"Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish." []	567350	\N	\N	EFO	2	EFO	infectious disease	Piscirickettsiaceae Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001397	"Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish." []	1148787	\N	\N	EFO	3	EFO	disease	Piscirickettsiaceae Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001397	"Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish." []	2031024	\N	\N	EFO	4	EFO	disposition	Piscirickettsiaceae Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001397	"Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish." []	3181638	\N	\N	EFO	5	EFO	material property	Piscirickettsiaceae Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001397	"Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish." []	4389933	\N	\N	EFO	6	EFO	experimental factor	Piscirickettsiaceae Infections
EFO:1001398	\N	\N	"Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions." []	EFO:1001398	"Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions." []	70983	\N	\N	EFO	0	EFO	Pneumocephalus	Pneumocephalus
EFO:0005774	EFO:1001398	\N	"A disease affecting the brain or part of the brain." []	EFO:1001398	"Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions." []	213517	\N	\N	EFO	1	EFO	brain disease	Pneumocephalus
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001398	"Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions." []	567351	\N	\N	EFO	2	EFO	nervous system disease	Pneumocephalus
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001398	"Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions." []	1148788	\N	\N	EFO	3	EFO	disease	Pneumocephalus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001398	"Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions." []	2031025	\N	\N	EFO	4	EFO	disposition	Pneumocephalus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001398	"Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions." []	3181639	\N	\N	EFO	5	EFO	material property	Pneumocephalus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001398	"Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions." []	4389934	\N	\N	EFO	6	EFO	experimental factor	Pneumocephalus
EFO:1001399	\N	\N	"A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT." []	EFO:1001399	"A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT." []	70984	\N	\N	EFO	0	EFO	Pneumonia, Aspiration	Pneumonia, Aspiration
EFO:0003106	EFO:1001399	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:1001399	"A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT." []	213518	\N	\N	EFO	1	EFO	pneumonia	Pneumonia, Aspiration
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001399	"A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT." []	567352	\N	\N	EFO	2	EFO	lung disease	Pneumonia, Aspiration
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001399	"A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT." []	567353	\N	\N	EFO	2	EFO	infectious disease	Pneumonia, Aspiration
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001399	"A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT." []	1148789	\N	\N	EFO	3	EFO	respiratory system disease	Pneumonia, Aspiration
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001399	"A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT." []	1148790	\N	\N	EFO	3	EFO	disease	Pneumonia, Aspiration
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001399	"A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT." []	2031026	\N	\N	EFO	4	EFO	disease	Pneumonia, Aspiration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001399	"A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT." []	3181640	\N	\N	EFO	5	EFO	disposition	Pneumonia, Aspiration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001399	"A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT." []	4133122	\N	\N	EFO	6	EFO	material property	Pneumonia, Aspiration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001399	"A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT." []	5181352	\N	\N	EFO	7	EFO	experimental factor	Pneumonia, Aspiration
EFO:1001400	\N	\N	"Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins." []	EFO:1001400	"Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins." []	70985	\N	\N	EFO	0	EFO	Pneumopericardium	Pneumopericardium
EFO:0007427	EFO:1001400	\N	"A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." []	EFO:1001400	"Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins." []	213519	\N	\N	EFO	1	EFO	pericarditis	Pneumopericardium
EFO:0003777	EFO:0007427	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001400	"Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins." []	567354	\N	\N	EFO	2	EFO	heart disease	Pneumopericardium
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001400	"Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins." []	1148791	\N	\N	EFO	3	EFO	cardiovascular disease	Pneumopericardium
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001400	"Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins." []	2031028	\N	\N	EFO	4	EFO	disease	Pneumopericardium
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001400	"Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins." []	3181642	\N	\N	EFO	5	EFO	disposition	Pneumopericardium
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001400	"Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins." []	4389936	\N	\N	EFO	6	EFO	material property	Pneumopericardium
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001400	"Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins." []	5409497	\N	\N	EFO	7	EFO	experimental factor	Pneumopericardium
EFO:1001401	\N	\N	"Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans." []	EFO:1001401	"Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans." []	70986	\N	\N	EFO	0	EFO	Pneumovirus Infections	Pneumovirus Infections
EFO:0000763	EFO:1001401	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001401	"Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans." []	213520	\N	\N	EFO	1	EFO	viral disease	Pneumovirus Infections
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001401	"Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans." []	567355	\N	\N	EFO	2	EFO	infectious disease	Pneumovirus Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001401	"Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans." []	1148792	\N	\N	EFO	3	EFO	disease	Pneumovirus Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001401	"Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans." []	2031029	\N	\N	EFO	4	EFO	disposition	Pneumovirus Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001401	"Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans." []	3181643	\N	\N	EFO	5	EFO	material property	Pneumovirus Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001401	"Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans." []	4389937	\N	\N	EFO	6	EFO	experimental factor	Pneumovirus Infections
EFO:1001402	\N	\N	"Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)" []	EFO:1001402	"Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)" []	70987	\N	\N	EFO	0	EFO	postencephalitic Parkinson disease	postencephalitic Parkinson disease
EFO:0002508	EFO:1001402	\N	"A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)" []	EFO:1001402	"Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)" []	213521	\N	\N	EFO	1	EFO	Parkinson's disease	postencephalitic Parkinson disease
EFO:0005772	EFO:0002508	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:1001402	"Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)" []	567356	\N	\N	EFO	2	EFO	neurodegenerative disease	postencephalitic Parkinson disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001402	"Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)" []	1148793	\N	\N	EFO	3	EFO	nervous system disease	postencephalitic Parkinson disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001402	"Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)" []	2031030	\N	\N	EFO	4	EFO	disease	postencephalitic Parkinson disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001402	"Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)" []	3181644	\N	\N	EFO	5	EFO	disposition	postencephalitic Parkinson disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001402	"Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)" []	4389938	\N	\N	EFO	6	EFO	material property	postencephalitic Parkinson disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001402	"Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)" []	5409498	\N	\N	EFO	7	EFO	experimental factor	postencephalitic Parkinson disease
EFO:1001403	\N	\N	"Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum." []	EFO:1001403	"Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum." []	70988	\N	\N	EFO	0	EFO	Postpartum Thyroiditis	Postpartum Thyroiditis
EFO:1000627	EFO:1001403	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1001403	"Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum." []	213522	\N	\N	EFO	1	EFO	thyroid disease	Postpartum Thyroiditis
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001403	"Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum." []	567357	\N	\N	EFO	2	EFO	endocrine system disease	Postpartum Thyroiditis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001403	"Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum." []	1148794	\N	\N	EFO	3	EFO	disease	Postpartum Thyroiditis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001403	"Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum." []	2031031	\N	\N	EFO	4	EFO	disposition	Postpartum Thyroiditis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001403	"Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum." []	3181645	\N	\N	EFO	5	EFO	material property	Postpartum Thyroiditis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001403	"Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum." []	4389939	\N	\N	EFO	6	EFO	experimental factor	Postpartum Thyroiditis
EFO:1001404	\N	\N	"A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN." []	EFO:1001404	"A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN." []	70989	\N	\N	EFO	0	EFO	Postpericardiotomy Syndrome	Postpericardiotomy Syndrome
EFO:0003785	EFO:1001404	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1001404	"A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN." []	213523	\N	\N	EFO	1	EFO	allergy	Postpericardiotomy Syndrome
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001404	"A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN." []	567358	\N	\N	EFO	2	EFO	immune system disease	Postpericardiotomy Syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001404	"A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN." []	1148795	\N	\N	EFO	3	EFO	disease	Postpericardiotomy Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001404	"A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN." []	2031032	\N	\N	EFO	4	EFO	disposition	Postpericardiotomy Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001404	"A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN." []	3181646	\N	\N	EFO	5	EFO	material property	Postpericardiotomy Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001404	"A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN." []	4389940	\N	\N	EFO	6	EFO	experimental factor	Postpericardiotomy Syndrome
EFO:1001405	\N	\N	"A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER." []	EFO:1001405	"A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER." []	70990	\N	\N	EFO	0	EFO	Postthrombotic Syndrome	Postthrombotic Syndrome
EFO:0000319	EFO:1001405	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001405	"A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER." []	213524	\N	\N	EFO	1	EFO	cardiovascular disease	Postthrombotic Syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001405	"A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER." []	567359	\N	\N	EFO	2	EFO	disease	Postthrombotic Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001405	"A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER." []	1148796	\N	\N	EFO	3	EFO	disposition	Postthrombotic Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001405	"A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER." []	2031033	\N	\N	EFO	4	EFO	material property	Postthrombotic Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001405	"A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER." []	3181647	\N	\N	EFO	5	EFO	experimental factor	Postthrombotic Syndrome
EFO:1001406	\N	\N	"Infections resulting from the implantation of prosthetic devices. The infections may be acquired from intraoperative contamination (early) or hematogenously acquired from other sites (late)." []	EFO:1001406	"Infections resulting from the implantation of prosthetic devices. The infections may be acquired from intraoperative contamination (early) or hematogenously acquired from other sites (late)." []	70991	\N	\N	EFO	0	EFO	Prosthesis-Related Infections	Prosthesis-Related Infections
EFO:0005741	EFO:1001406	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001406	"Infections resulting from the implantation of prosthetic devices. The infections may be acquired from intraoperative contamination (early) or hematogenously acquired from other sites (late)." []	213525	\N	\N	EFO	1	EFO	infectious disease	Prosthesis-Related Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001406	"Infections resulting from the implantation of prosthetic devices. The infections may be acquired from intraoperative contamination (early) or hematogenously acquired from other sites (late)." []	567360	\N	\N	EFO	2	EFO	disease	Prosthesis-Related Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001406	"Infections resulting from the implantation of prosthetic devices. The infections may be acquired from intraoperative contamination (early) or hematogenously acquired from other sites (late)." []	1148797	\N	\N	EFO	3	EFO	disposition	Prosthesis-Related Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001406	"Infections resulting from the implantation of prosthetic devices. The infections may be acquired from intraoperative contamination (early) or hematogenously acquired from other sites (late)." []	2031034	\N	\N	EFO	4	EFO	material property	Prosthesis-Related Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001406	"Infections resulting from the implantation of prosthetic devices. The infections may be acquired from intraoperative contamination (early) or hematogenously acquired from other sites (late)." []	3181648	\N	\N	EFO	5	EFO	experimental factor	Prosthesis-Related Infections
EFO:1001407	\N	\N	"An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth." []	EFO:1001407	"An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth." []	70992	\N	\N	EFO	0	EFO	Puerperal Infection	Puerperal Infection
EFO:0005741	EFO:1001407	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001407	"An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth." []	213526	\N	\N	EFO	1	EFO	infectious disease	Puerperal Infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001407	"An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth." []	567361	\N	\N	EFO	2	EFO	disease	Puerperal Infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001407	"An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth." []	1148798	\N	\N	EFO	3	EFO	disposition	Puerperal Infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001407	"An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth." []	2031035	\N	\N	EFO	4	EFO	material property	Puerperal Infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001407	"An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth." []	3181649	\N	\N	EFO	5	EFO	experimental factor	Puerperal Infection
EFO:1001408	\N	\N	"NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung." []	EFO:1001408	"NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung." []	70993	\N	\N	EFO	0	EFO	Pulmonary Infarction	Pulmonary Infarction
EFO:0003827	EFO:1001408	\N	"Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS." []	EFO:1001408	"NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung." []	213527	\N	\N	EFO	1	EFO	pulmonary embolism	Pulmonary Infarction
EFO:0004264	EFO:0003827	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001408	"NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung." []	567362	\N	\N	EFO	2	EFO	vascular disease	Pulmonary Infarction
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001408	"NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung." []	1148799	\N	\N	EFO	3	EFO	cardiovascular disease	Pulmonary Infarction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001408	"NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung." []	2031036	\N	\N	EFO	4	EFO	disease	Pulmonary Infarction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001408	"NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung." []	3181650	\N	\N	EFO	5	EFO	disposition	Pulmonary Infarction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001408	"NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung." []	4389941	\N	\N	EFO	6	EFO	material property	Pulmonary Infarction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001408	"NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung." []	5409499	\N	\N	EFO	7	EFO	experimental factor	Pulmonary Infarction
EFO:1001409	\N	\N	"An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS." []	EFO:1001409	"An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS." []	70994	\N	\N	EFO	0	EFO	Pyomyositis	Pyomyositis
EFO:0002970	EFO:1001409	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1001409	"An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS." []	213528	\N	\N	EFO	1	EFO	muscular disease	Pyomyositis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1001409	"An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS." []	567363	\N	\N	EFO	2	EFO	skeletal system disease	Pyomyositis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001409	"An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS." []	1148800	\N	\N	EFO	3	EFO	disease	Pyomyositis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001409	"An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS." []	2031037	\N	\N	EFO	4	EFO	disposition	Pyomyositis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001409	"An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS." []	3181651	\N	\N	EFO	5	EFO	material property	Pyomyositis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001409	"An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS." []	4389942	\N	\N	EFO	6	EFO	experimental factor	Pyomyositis
EFO:1001410	\N	\N	"A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." []	EFO:1001410	"A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." []	70995	\N	\N	EFO	0	EFO	Pythiosis	Pythiosis
EFO:0001067	EFO:1001410	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001410	"A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." []	213529	\N	\N	EFO	1	EFO	parasitic infection	Pythiosis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001410	"A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." []	567364	\N	\N	EFO	2	EFO	infectious disease	Pythiosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001410	"A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." []	1148801	\N	\N	EFO	3	EFO	disease	Pythiosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001410	"A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." []	2031038	\N	\N	EFO	4	EFO	disposition	Pythiosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001410	"A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." []	3181652	\N	\N	EFO	5	EFO	material property	Pythiosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001410	"A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." []	4389943	\N	\N	EFO	6	EFO	experimental factor	Pythiosis
EFO:1001411	\N	\N	"Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." []	EFO:1001411	"Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." []	70996	\N	\N	EFO	0	EFO	Radiation Pneumonitis	Radiation Pneumonitis
EFO:1001991	EFO:1001411	\N	"An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" []	EFO:1001411	"Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." []	213530	\N	\N	EFO	1	EFO	pneumonitis	Radiation Pneumonitis
EFO:0003106	EFO:1001991	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:1001411	"Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." []	567365	\N	\N	EFO	2	EFO	pneumonia	Radiation Pneumonitis
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001411	"Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." []	1148802	\N	\N	EFO	3	EFO	lung disease	Radiation Pneumonitis
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001411	"Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." []	1148803	\N	\N	EFO	3	EFO	infectious disease	Radiation Pneumonitis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001411	"Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." []	2031039	\N	\N	EFO	4	EFO	respiratory system disease	Radiation Pneumonitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001411	"Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." []	2031040	\N	\N	EFO	4	EFO	disease	Radiation Pneumonitis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001411	"Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." []	3181653	\N	\N	EFO	5	EFO	disease	Radiation Pneumonitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001411	"Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." []	4389944	\N	\N	EFO	6	EFO	disposition	Radiation Pneumonitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001411	"Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." []	5181353	\N	\N	EFO	7	EFO	material property	Radiation Pneumonitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001411	"Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." []	5996768	\N	\N	EFO	8	EFO	experimental factor	Radiation Pneumonitis
EFO:1001412	\N	\N	"A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA." []	EFO:1001412	"A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA." []	70997	\N	\N	EFO	0	EFO	Renal Colic	Renal Colic
EFO:0003843	EFO:1001412	\N	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	EFO:1001412	"A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA." []	213531	\N	\N	EFO	1	EFO	pain	Renal Colic
EFO:0003765	EFO:0003843	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:1001412	"A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA." []	567366	\N	\N	EFO	2	EFO	sign or symptom	Renal Colic
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:1001412	"A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA." []	1148804	\N	\N	EFO	3	EFO	phenotype	Renal Colic
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:1001412	"A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA." []	2031041	\N	\N	EFO	4	EFO	quality	Renal Colic
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001412	"A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA." []	3181655	\N	\N	EFO	5	EFO	material property	Renal Colic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001412	"A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA." []	4389946	\N	\N	EFO	6	EFO	experimental factor	Renal Colic
EFO:1001413	\N	\N	"Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported." []	EFO:1001413	"Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported." []	70998	\N	\N	EFO	0	EFO	Respiratory Syncytial Virus Infection	Respiratory Syncytial Virus Infection
EFO:0000763	EFO:1001413	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001413	"Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported." []	213532	\N	\N	EFO	1	EFO	viral disease	Respiratory Syncytial Virus Infection
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001413	"Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported." []	567367	\N	\N	EFO	2	EFO	infectious disease	Respiratory Syncytial Virus Infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001413	"Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported." []	1148805	\N	\N	EFO	3	EFO	disease	Respiratory Syncytial Virus Infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001413	"Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported." []	2031042	\N	\N	EFO	4	EFO	disposition	Respiratory Syncytial Virus Infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001413	"Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported." []	3181656	\N	\N	EFO	5	EFO	material property	Respiratory Syncytial Virus Infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001413	"Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported." []	4389947	\N	\N	EFO	6	EFO	experimental factor	Respiratory Syncytial Virus Infection
EFO:1001414	\N	\N	"Hemorrhage within the orbital cavity, posterior to the eyeball." []	EFO:1001414	"Hemorrhage within the orbital cavity, posterior to the eyeball." []	70999	\N	\N	EFO	0	EFO	Retrobulbar Hemorrhage	Retrobulbar Hemorrhage
EFO:0003966	EFO:1001414	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001414	"Hemorrhage within the orbital cavity, posterior to the eyeball." []	213533	\N	\N	EFO	1	EFO	eye disease	Retrobulbar Hemorrhage
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001414	"Hemorrhage within the orbital cavity, posterior to the eyeball." []	567368	\N	\N	EFO	2	EFO	disease	Retrobulbar Hemorrhage
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001414	"Hemorrhage within the orbital cavity, posterior to the eyeball." []	1148806	\N	\N	EFO	3	EFO	disposition	Retrobulbar Hemorrhage
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001414	"Hemorrhage within the orbital cavity, posterior to the eyeball." []	2031043	\N	\N	EFO	4	EFO	material property	Retrobulbar Hemorrhage
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001414	"Hemorrhage within the orbital cavity, posterior to the eyeball." []	3181657	\N	\N	EFO	5	EFO	experimental factor	Retrobulbar Hemorrhage
EFO:1001415	\N	\N	"An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries." []	EFO:1001415	"An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries." []	71000	\N	\N	EFO	0	EFO	Retropharyngeal Abscess	Retropharyngeal Abscess
EFO:0003030	EFO:1001415	\N	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	EFO:1001415	"An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries." []	213534	\N	\N	EFO	1	EFO	abscess	Retropharyngeal Abscess
EFO:0000771	EFO:0003030	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001415	"An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries." []	567369	\N	\N	EFO	2	EFO	bacterial disease	Retropharyngeal Abscess
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001415	"An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries." []	1148807	\N	\N	EFO	3	EFO	infectious disease	Retropharyngeal Abscess
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001415	"An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries." []	2031044	\N	\N	EFO	4	EFO	disease	Retropharyngeal Abscess
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001415	"An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries." []	3181658	\N	\N	EFO	5	EFO	disposition	Retropharyngeal Abscess
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001415	"An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries." []	4389948	\N	\N	EFO	6	EFO	material property	Retropharyngeal Abscess
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001415	"An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries." []	5409501	\N	\N	EFO	7	EFO	experimental factor	Retropharyngeal Abscess
EFO:1001416	\N	\N	"A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)" []	EFO:1001416	"A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)" []	71001	\N	\N	EFO	0	EFO	Rheumatic Nodule	Rheumatic Nodule
EFO:0003777	EFO:1001416	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001416	"A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)" []	213535	\N	\N	EFO	1	EFO	heart disease	Rheumatic Nodule
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001416	"A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)" []	567370	\N	\N	EFO	2	EFO	cardiovascular disease	Rheumatic Nodule
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001416	"A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)" []	1148808	\N	\N	EFO	3	EFO	disease	Rheumatic Nodule
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001416	"A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)" []	2031045	\N	\N	EFO	4	EFO	disposition	Rheumatic Nodule
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001416	"A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)" []	3181659	\N	\N	EFO	5	EFO	material property	Rheumatic Nodule
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001416	"A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)" []	4389949	\N	\N	EFO	6	EFO	experimental factor	Rheumatic Nodule
EFO:1001417	\N	\N	"Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc." []	EFO:1001417	"Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc." []	71002	\N	\N	EFO	0	EFO	Rhinitis, Allergic, Perennial	Rhinitis, Allergic, Perennial
EFO:0005854	EFO:1001417	\N	"Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." []	EFO:1001417	"Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc." []	213536	\N	\N	EFO	1	EFO	allergic rhinitis	Rhinitis, Allergic, Perennial
EFO:0003785	EFO:0005854	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1001417	"Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc." []	567371	\N	\N	EFO	2	EFO	allergy	Rhinitis, Allergic, Perennial
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001417	"Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc." []	1148809	\N	\N	EFO	3	EFO	immune system disease	Rhinitis, Allergic, Perennial
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001417	"Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc." []	2031046	\N	\N	EFO	4	EFO	disease	Rhinitis, Allergic, Perennial
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001417	"Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc." []	3181660	\N	\N	EFO	5	EFO	disposition	Rhinitis, Allergic, Perennial
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001417	"Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc." []	4389950	\N	\N	EFO	6	EFO	material property	Rhinitis, Allergic, Perennial
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001417	"Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc." []	5409502	\N	\N	EFO	7	EFO	experimental factor	Rhinitis, Allergic, Perennial
EFO:1001418	\N	\N	"Infections with bacteria of the genus SALMONELLA." []	EFO:1001418	"Infections with bacteria of the genus SALMONELLA." []	71003	\N	\N	EFO	0	EFO	Salmonella Infections	Salmonella Infections
EFO:0000771	EFO:1001418	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001418	"Infections with bacteria of the genus SALMONELLA." []	213537	\N	\N	EFO	1	EFO	bacterial disease	Salmonella Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001418	"Infections with bacteria of the genus SALMONELLA." []	567372	\N	\N	EFO	2	EFO	infectious disease	Salmonella Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001418	"Infections with bacteria of the genus SALMONELLA." []	1148810	\N	\N	EFO	3	EFO	disease	Salmonella Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001418	"Infections with bacteria of the genus SALMONELLA." []	2031047	\N	\N	EFO	4	EFO	disposition	Salmonella Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001418	"Infections with bacteria of the genus SALMONELLA." []	3181661	\N	\N	EFO	5	EFO	material property	Salmonella Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001418	"Infections with bacteria of the genus SALMONELLA." []	4389951	\N	\N	EFO	6	EFO	experimental factor	Salmonella Infections
EFO:1001419	\N	\N	"Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen." []	EFO:1001419	"Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen." []	71004	\N	\N	EFO	0	EFO	Schistosomiasis japonica	Schistosomiasis japonica
EFO:0001067	EFO:1001419	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001419	"Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen." []	213538	\N	\N	EFO	1	EFO	parasitic infection	Schistosomiasis japonica
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001419	"Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen." []	567373	\N	\N	EFO	2	EFO	infectious disease	Schistosomiasis japonica
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001419	"Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen." []	1148811	\N	\N	EFO	3	EFO	disease	Schistosomiasis japonica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001419	"Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen." []	2031048	\N	\N	EFO	4	EFO	disposition	Schistosomiasis japonica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001419	"Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen." []	3181662	\N	\N	EFO	5	EFO	material property	Schistosomiasis japonica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001419	"Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen." []	4389952	\N	\N	EFO	6	EFO	experimental factor	Schistosomiasis japonica
EFO:1001420	\N	\N	"Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver." []	EFO:1001420	"Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver." []	71005	\N	\N	EFO	0	EFO	Schistosomiasis mansoni	Schistosomiasis mansoni
EFO:0001067	EFO:1001420	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001420	"Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver." []	213539	\N	\N	EFO	1	EFO	parasitic infection	Schistosomiasis mansoni
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001420	"Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver." []	567374	\N	\N	EFO	2	EFO	infectious disease	Schistosomiasis mansoni
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001420	"Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver." []	1148812	\N	\N	EFO	3	EFO	disease	Schistosomiasis mansoni
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001420	"Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver." []	2031049	\N	\N	EFO	4	EFO	disposition	Schistosomiasis mansoni
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001420	"Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver." []	3181663	\N	\N	EFO	5	EFO	material property	Schistosomiasis mansoni
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001420	"Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver." []	4389953	\N	\N	EFO	6	EFO	experimental factor	Schistosomiasis mansoni
EFO:1001421	\N	\N	"Infections with bacteria of the genus SERRATIA." []	EFO:1001421	"Infections with bacteria of the genus SERRATIA." []	71006	\N	\N	EFO	0	EFO	Serratia Infections	Serratia Infections
EFO:0000771	EFO:1001421	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001421	"Infections with bacteria of the genus SERRATIA." []	213540	\N	\N	EFO	1	EFO	bacterial disease	Serratia Infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001421	"Infections with bacteria of the genus SERRATIA." []	567375	\N	\N	EFO	2	EFO	infectious disease	Serratia Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001421	"Infections with bacteria of the genus SERRATIA." []	1148813	\N	\N	EFO	3	EFO	disease	Serratia Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001421	"Infections with bacteria of the genus SERRATIA." []	2031050	\N	\N	EFO	4	EFO	disposition	Serratia Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001421	"Infections with bacteria of the genus SERRATIA." []	3181664	\N	\N	EFO	5	EFO	material property	Serratia Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001421	"Infections with bacteria of the genus SERRATIA." []	4389954	\N	\N	EFO	6	EFO	experimental factor	Serratia Infections
EFO:1001422	\N	\N	"A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement." []	EFO:1001422	"A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement." []	71007	\N	\N	EFO	0	EFO	Sertoli Cell-Only Syndrome	Sertoli Cell-Only Syndrome
EFO:0000512	EFO:1001422	\N	"any diease of the reproductive system" []	EFO:1001422	"A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement." []	213541	\N	\N	EFO	1	EFO	reproductive system disease	Sertoli Cell-Only Syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001422	"A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement." []	567376	\N	\N	EFO	2	EFO	disease	Sertoli Cell-Only Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001422	"A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement." []	1148814	\N	\N	EFO	3	EFO	disposition	Sertoli Cell-Only Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001422	"A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement." []	2031051	\N	\N	EFO	4	EFO	material property	Sertoli Cell-Only Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001422	"A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement." []	3181665	\N	\N	EFO	5	EFO	experimental factor	Sertoli Cell-Only Syndrome
EFO:1001423	\N	\N	"Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death." []	EFO:1001423	"Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death." []	71008	\N	\N	EFO	0	EFO	Shaken Baby Syndrome	Shaken Baby Syndrome
EFO:0005774	EFO:1001423	\N	"A disease affecting the brain or part of the brain." []	EFO:1001423	"Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death." []	213542	\N	\N	EFO	1	EFO	brain disease	Shaken Baby Syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001423	"Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death." []	567377	\N	\N	EFO	2	EFO	nervous system disease	Shaken Baby Syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001423	"Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death." []	1148815	\N	\N	EFO	3	EFO	disease	Shaken Baby Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001423	"Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death." []	2031052	\N	\N	EFO	4	EFO	disposition	Shaken Baby Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001423	"Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death." []	3181666	\N	\N	EFO	5	EFO	material property	Shaken Baby Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001423	"Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death." []	4389955	\N	\N	EFO	6	EFO	experimental factor	Shaken Baby Syndrome
EFO:1001424	\N	\N	"Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells." []	EFO:1001424	"Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells." []	71009	\N	\N	EFO	0	EFO	skin epithelioid hemangioma	skin epithelioid hemangioma
EFO:1000635	EFO:1001424	\N	"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." []	EFO:1001424	"Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells." []	213543	\N	\N	EFO	1	EFO	hemangioma	skin epithelioid hemangioma
EFO:0000616	EFO:1000635	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001424	"Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells." []	567378	\N	\N	EFO	2	EFO	neoplasm	skin epithelioid hemangioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001424	"Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells." []	1148816	\N	\N	EFO	3	EFO	disease	skin epithelioid hemangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001424	"Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells." []	2031053	\N	\N	EFO	4	EFO	disposition	skin epithelioid hemangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001424	"Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells." []	3181667	\N	\N	EFO	5	EFO	material property	skin epithelioid hemangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001424	"Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells." []	4389956	\N	\N	EFO	6	EFO	experimental factor	skin epithelioid hemangioma
EFO:1001425	\N	\N	"Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)." []	EFO:1001425	"Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)." []	71010	\N	\N	EFO	0	EFO	Skull Fractures	Skull Fractures
EFO:0003931	EFO:1001425	\N	"Breaks in bones." []	EFO:1001425	"Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)." []	213544	\N	\N	EFO	1	EFO	bone fracture	Skull Fractures
EFO:0004260	EFO:0003931	\N	"Diseases of BONES." []	EFO:1001425	"Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)." []	567379	\N	\N	EFO	2	EFO	bone disease	Skull Fractures
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001425	"Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)." []	1148817	\N	\N	EFO	3	EFO	skeletal system disease	Skull Fractures
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001425	"Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)." []	2031054	\N	\N	EFO	4	EFO	disease	Skull Fractures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001425	"Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)." []	3181668	\N	\N	EFO	5	EFO	disposition	Skull Fractures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001425	"Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)." []	4389957	\N	\N	EFO	6	EFO	material property	Skull Fractures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001425	"Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)." []	5409503	\N	\N	EFO	7	EFO	experimental factor	Skull Fractures
EFO:1001426	\N	\N	"Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue." []	EFO:1001426	"Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue." []	71011	\N	\N	EFO	0	EFO	Spinal Cord Ischemia	Spinal Cord Ischemia
EFO:0000319	EFO:1001426	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001426	"Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue." []	213545	\N	\N	EFO	1	EFO	cardiovascular disease	Spinal Cord Ischemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001426	"Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue." []	567380	\N	\N	EFO	2	EFO	disease	Spinal Cord Ischemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001426	"Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue." []	1148818	\N	\N	EFO	3	EFO	disposition	Spinal Cord Ischemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001426	"Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue." []	2031055	\N	\N	EFO	4	EFO	material property	Spinal Cord Ischemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001426	"Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue." []	3181669	\N	\N	EFO	5	EFO	experimental factor	Spinal Cord Ischemia
EFO:1001428	\N	\N	"A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA." []	EFO:1001428	"A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA." []	71012	\N	\N	EFO	0	EFO	Subacute Combined Degeneration	Subacute Combined Degeneration
EFO:0004149	EFO:1001428	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001428	"A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA." []	213546	\N	\N	EFO	1	EFO	neuropathy	Subacute Combined Degeneration
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001428	"A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA." []	567381	\N	\N	EFO	2	EFO	nervous system disease	Subacute Combined Degeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001428	"A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA." []	1148819	\N	\N	EFO	3	EFO	disease	Subacute Combined Degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001428	"A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA." []	2031056	\N	\N	EFO	4	EFO	disposition	Subacute Combined Degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001428	"A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA." []	3181670	\N	\N	EFO	5	EFO	material property	Subacute Combined Degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001428	"A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA." []	4389958	\N	\N	EFO	6	EFO	experimental factor	Subacute Combined Degeneration
EFO:1001429	\N	\N	"Leakage and accumulation of CEREBROSPINAL FLUID in the subdural space which may be associated with an infectious process; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; INTRACRANIAL HYPOTENSION; and other conditions." []	EFO:1001429	"Leakage and accumulation of CEREBROSPINAL FLUID in the subdural space which may be associated with an infectious process; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; INTRACRANIAL HYPOTENSION; and other conditions." []	71013	\N	\N	EFO	0	EFO	Subdural Effusion	Subdural Effusion
EFO:0000618	EFO:1001429	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001429	"Leakage and accumulation of CEREBROSPINAL FLUID in the subdural space which may be associated with an infectious process; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; INTRACRANIAL HYPOTENSION; and other conditions." []	213547	\N	\N	EFO	1	EFO	nervous system disease	Subdural Effusion
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001429	"Leakage and accumulation of CEREBROSPINAL FLUID in the subdural space which may be associated with an infectious process; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; INTRACRANIAL HYPOTENSION; and other conditions." []	567382	\N	\N	EFO	2	EFO	disease	Subdural Effusion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001429	"Leakage and accumulation of CEREBROSPINAL FLUID in the subdural space which may be associated with an infectious process; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; INTRACRANIAL HYPOTENSION; and other conditions." []	1148820	\N	\N	EFO	3	EFO	disposition	Subdural Effusion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001429	"Leakage and accumulation of CEREBROSPINAL FLUID in the subdural space which may be associated with an infectious process; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; INTRACRANIAL HYPOTENSION; and other conditions." []	2031057	\N	\N	EFO	4	EFO	material property	Subdural Effusion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001429	"Leakage and accumulation of CEREBROSPINAL FLUID in the subdural space which may be associated with an infectious process; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; INTRACRANIAL HYPOTENSION; and other conditions." []	3181671	\N	\N	EFO	5	EFO	experimental factor	Subdural Effusion
EFO:1001430	\N	\N	"Neoplasms of the sublingual glands." []	EFO:1001430	"Neoplasms of the sublingual glands." []	71014	\N	\N	EFO	0	EFO	Sublingual Gland Neoplasms	Sublingual Gland Neoplasms
EFO:0003826	EFO:1001430	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1001430	"Neoplasms of the sublingual glands." []	213548	\N	\N	EFO	1	EFO	salivary gland neoplasm	Sublingual Gland Neoplasms
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001430	"Neoplasms of the sublingual glands." []	567383	\N	\N	EFO	2	EFO	digestive system disease	Sublingual Gland Neoplasms
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1001430	"Neoplasms of the sublingual glands." []	567384	\N	\N	EFO	2	EFO	head and neck neoplasia	Sublingual Gland Neoplasms
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001430	"Neoplasms of the sublingual glands." []	1148821	\N	\N	EFO	3	EFO	disease	Sublingual Gland Neoplasms
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001430	"Neoplasms of the sublingual glands." []	1148822	\N	\N	EFO	3	EFO	head disease	Sublingual Gland Neoplasms
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001430	"Neoplasms of the sublingual glands." []	1148823	\N	\N	EFO	3	EFO	neoplasm	Sublingual Gland Neoplasms
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001430	"Neoplasms of the sublingual glands." []	3181673	\N	\N	EFO	5	EFO	disposition	Sublingual Gland Neoplasms
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001430	"Neoplasms of the sublingual glands." []	2031059	\N	\N	EFO	4	EFO	disease	Sublingual Gland Neoplasms
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001430	"Neoplasms of the sublingual glands." []	2031060	\N	\N	EFO	4	EFO	disease	Sublingual Gland Neoplasms
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001430	"Neoplasms of the sublingual glands." []	4133123	\N	\N	EFO	6	EFO	material property	Sublingual Gland Neoplasms
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001430	"Neoplasms of the sublingual glands." []	5181354	\N	\N	EFO	7	EFO	experimental factor	Sublingual Gland Neoplasms
EFO:1001431	\N	\N	"Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS." []	EFO:1001431	"Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS." []	71015	\N	\N	EFO	0	EFO	suppurative thyroiditis	suppurative thyroiditis
EFO:1000627	EFO:1001431	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1001431	"Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS." []	213549	\N	\N	EFO	1	EFO	thyroid disease	suppurative thyroiditis
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001431	"Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS." []	567385	\N	\N	EFO	2	EFO	endocrine system disease	suppurative thyroiditis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001431	"Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS." []	1148824	\N	\N	EFO	3	EFO	disease	suppurative thyroiditis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001431	"Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS." []	2031061	\N	\N	EFO	4	EFO	disposition	suppurative thyroiditis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001431	"Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS." []	3181674	\N	\N	EFO	5	EFO	material property	suppurative thyroiditis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001431	"Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS." []	4389960	\N	\N	EFO	6	EFO	experimental factor	suppurative thyroiditis
EFO:1001432	\N	\N	"Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE." []	EFO:1001432	"Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE." []	71016	\N	\N	EFO	0	EFO	Tachycardia, Reciprocating	Tachycardia, Reciprocating
EFO:0004269	EFO:1001432	\N	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	EFO:1001432	"Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE." []	213550	\N	\N	EFO	1	EFO	cardiac arrhythmia	Tachycardia, Reciprocating
EFO:0003777	EFO:0004269	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001432	"Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE." []	567386	\N	\N	EFO	2	EFO	heart disease	Tachycardia, Reciprocating
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001432	"Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE." []	1148825	\N	\N	EFO	3	EFO	cardiovascular disease	Tachycardia, Reciprocating
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001432	"Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE." []	2031062	\N	\N	EFO	4	EFO	disease	Tachycardia, Reciprocating
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001432	"Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE." []	3181675	\N	\N	EFO	5	EFO	disposition	Tachycardia, Reciprocating
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001432	"Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE." []	4389961	\N	\N	EFO	6	EFO	material property	Tachycardia, Reciprocating
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001432	"Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE." []	5409504	\N	\N	EFO	7	EFO	experimental factor	Tachycardia, Reciprocating
EFO:1001433	\N	\N	"Infection with tapeworms of the genus Taenia." []	EFO:1001433	"Infection with tapeworms of the genus Taenia." []	71017	\N	\N	EFO	0	EFO	Taeniasis	Taeniasis
EFO:0001067	EFO:1001433	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001433	"Infection with tapeworms of the genus Taenia." []	213551	\N	\N	EFO	1	EFO	parasitic infection	Taeniasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001433	"Infection with tapeworms of the genus Taenia." []	567387	\N	\N	EFO	2	EFO	infectious disease	Taeniasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001433	"Infection with tapeworms of the genus Taenia." []	1148826	\N	\N	EFO	3	EFO	disease	Taeniasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001433	"Infection with tapeworms of the genus Taenia." []	2031063	\N	\N	EFO	4	EFO	disposition	Taeniasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001433	"Infection with tapeworms of the genus Taenia." []	3181676	\N	\N	EFO	5	EFO	material property	Taeniasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001433	"Infection with tapeworms of the genus Taenia." []	4389962	\N	\N	EFO	6	EFO	experimental factor	Taeniasis
EFO:1001434	\N	\N	"Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. Distinguishing tendinosis from tendinitis is clinically difficult and can be made only after histopathological examination." []	EFO:1001434	"Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. Distinguishing tendinosis from tendinitis is clinically difficult and can be made only after histopathological examination." []	71018	\N	\N	EFO	0	EFO	Tendinopathy	Tendinopathy
EFO:0004260	EFO:1001434	\N	"Diseases of BONES." []	EFO:1001434	"Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. Distinguishing tendinosis from tendinitis is clinically difficult and can be made only after histopathological examination." []	213552	\N	\N	EFO	1	EFO	bone disease	Tendinopathy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001434	"Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. Distinguishing tendinosis from tendinitis is clinically difficult and can be made only after histopathological examination." []	567388	\N	\N	EFO	2	EFO	skeletal system disease	Tendinopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001434	"Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. Distinguishing tendinosis from tendinitis is clinically difficult and can be made only after histopathological examination." []	1148827	\N	\N	EFO	3	EFO	disease	Tendinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001434	"Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. Distinguishing tendinosis from tendinitis is clinically difficult and can be made only after histopathological examination." []	2031064	\N	\N	EFO	4	EFO	disposition	Tendinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001434	"Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. Distinguishing tendinosis from tendinitis is clinically difficult and can be made only after histopathological examination." []	3181677	\N	\N	EFO	5	EFO	material property	Tendinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001434	"Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. Distinguishing tendinosis from tendinitis is clinically difficult and can be made only after histopathological examination." []	4389963	\N	\N	EFO	6	EFO	experimental factor	Tendinopathy
EFO:1001435	\N	\N	"Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." []	EFO:1001435	"Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." []	71019	\N	\N	EFO	0	EFO	Tenosynovitis	Tenosynovitis
EFO:0004260	EFO:1001435	\N	"Diseases of BONES." []	EFO:1001435	"Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." []	213553	\N	\N	EFO	1	EFO	bone disease	Tenosynovitis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001435	"Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." []	567389	\N	\N	EFO	2	EFO	skeletal system disease	Tenosynovitis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001435	"Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." []	1148828	\N	\N	EFO	3	EFO	disease	Tenosynovitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001435	"Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." []	2031065	\N	\N	EFO	4	EFO	disposition	Tenosynovitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001435	"Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." []	3181678	\N	\N	EFO	5	EFO	material property	Tenosynovitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001435	"Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." []	4389964	\N	\N	EFO	6	EFO	experimental factor	Tenosynovitis
EFO:1001436	\N	\N	"A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR)." []	EFO:1001436	"A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR)." []	71020	\N	\N	EFO	0	EFO	thyroid nodule	thyroid nodule
EFO:1000627	EFO:1001436	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1001436	"A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR)." []	213554	\N	\N	EFO	1	EFO	thyroid disease	thyroid nodule
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001436	"A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR)." []	567390	\N	\N	EFO	2	EFO	endocrine system disease	thyroid nodule
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001436	"A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR)." []	1148829	\N	\N	EFO	3	EFO	disease	thyroid nodule
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001436	"A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR)." []	2031066	\N	\N	EFO	4	EFO	disposition	thyroid nodule
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001436	"A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR)." []	3181679	\N	\N	EFO	5	EFO	material property	thyroid nodule
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001436	"A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR)." []	4389965	\N	\N	EFO	6	EFO	experimental factor	thyroid nodule
EFO:1001437	\N	\N	"neoplasm of the trachea" []	EFO:1001437	"neoplasm of the trachea" []	71021	\N	\N	EFO	0	EFO	Tracheal neoplasm	Tracheal neoplasm
EFO:0003853	EFO:1001437	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1001437	"neoplasm of the trachea" []	213555	\N	\N	EFO	1	EFO	respiratory system neoplasm	Tracheal neoplasm
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001437	"neoplasm of the trachea" []	567391	\N	\N	EFO	2	EFO	neoplasm	Tracheal neoplasm
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001437	"neoplasm of the trachea" []	567392	\N	\N	EFO	2	EFO	respiratory system disease	Tracheal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001437	"neoplasm of the trachea" []	1148830	\N	\N	EFO	3	EFO	disease	Tracheal neoplasm
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001437	"neoplasm of the trachea" []	1148831	\N	\N	EFO	3	EFO	disease	Tracheal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001437	"neoplasm of the trachea" []	2031067	\N	\N	EFO	4	EFO	disposition	Tracheal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001437	"neoplasm of the trachea" []	3181680	\N	\N	EFO	5	EFO	material property	Tracheal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001437	"neoplasm of the trachea" []	4389966	\N	\N	EFO	6	EFO	experimental factor	Tracheal neoplasm
EFO:1001438	\N	\N	"Infections caused by infestation with worms of the class Trematoda." []	EFO:1001438	"Infections caused by infestation with worms of the class Trematoda." []	71022	\N	\N	EFO	0	EFO	Trematode Infections	Trematode Infections
EFO:0001067	EFO:1001438	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001438	"Infections caused by infestation with worms of the class Trematoda." []	213556	\N	\N	EFO	1	EFO	parasitic infection	Trematode Infections
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001438	"Infections caused by infestation with worms of the class Trematoda." []	567393	\N	\N	EFO	2	EFO	infectious disease	Trematode Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001438	"Infections caused by infestation with worms of the class Trematoda." []	1148832	\N	\N	EFO	3	EFO	disease	Trematode Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001438	"Infections caused by infestation with worms of the class Trematoda." []	2031068	\N	\N	EFO	4	EFO	disposition	Trematode Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001438	"Infections caused by infestation with worms of the class Trematoda." []	3181681	\N	\N	EFO	5	EFO	material property	Trematode Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001438	"Infections caused by infestation with worms of the class Trematoda." []	4389967	\N	\N	EFO	6	EFO	experimental factor	Trematode Infections
EFO:1001439	\N	\N	"A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL DEFECTS; PULMONARY STENOSIS; and RIGHT VENTRICULAR HYPERTROPHY." []	EFO:1001439	"A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL DEFECTS; PULMONARY STENOSIS; and RIGHT VENTRICULAR HYPERTROPHY." []	71023	\N	\N	EFO	0	EFO	Trilogy of Fallot	Trilogy of Fallot
HP:0001626	\N	\N	"Any abnormality of the cardiovascular system." [HPO:probinson]	EFO:1001439	"A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL DEFECTS; PULMONARY STENOSIS; and RIGHT VENTRICULAR HYPERTROPHY." []	194956	\N	\N	EFO	0	EFO	Abnormality of the cardiovascular system	Trilogy of Fallot
EFO:1001440	\N	\N	"A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells." []	EFO:1001440	"A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells." []	71024	\N	\N	EFO	0	EFO	Tuberculosis, Avian	Tuberculosis, Avian
EFO:0005932	EFO:1001440	\N	"A disease that occurs in animals." []	EFO:1001440	"A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells." []	213557	\N	\N	EFO	1	EFO	animal disease	Tuberculosis, Avian
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001440	"A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells." []	567394	\N	\N	EFO	2	EFO	disease	Tuberculosis, Avian
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001440	"A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells." []	1148833	\N	\N	EFO	3	EFO	disposition	Tuberculosis, Avian
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001440	"A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells." []	2031069	\N	\N	EFO	4	EFO	material property	Tuberculosis, Avian
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001440	"A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells." []	3181682	\N	\N	EFO	5	EFO	experimental factor	Tuberculosis, Avian
EFO:1001441	\N	\N	"An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals." []	EFO:1001441	"An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals." []	71025	\N	\N	EFO	0	EFO	Tuberculosis, Bovine	Tuberculosis, Bovine
EFO:0005932	EFO:1001441	\N	"A disease that occurs in animals." []	EFO:1001441	"An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals." []	213558	\N	\N	EFO	1	EFO	animal disease	Tuberculosis, Bovine
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001441	"An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals." []	567395	\N	\N	EFO	2	EFO	disease	Tuberculosis, Bovine
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001441	"An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals." []	1148834	\N	\N	EFO	3	EFO	disposition	Tuberculosis, Bovine
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001441	"An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals." []	2031070	\N	\N	EFO	4	EFO	material property	Tuberculosis, Bovine
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001441	"An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals." []	3181683	\N	\N	EFO	5	EFO	experimental factor	Tuberculosis, Bovine
EFO:1001442	\N	\N	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001442	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	71026	\N	\N	EFO	0	EFO	Tuberculosis, Cardiovascular	Tuberculosis, Cardiovascular
EFO:0000319	EFO:1001442	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001442	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	213559	\N	\N	EFO	1	EFO	cardiovascular disease	Tuberculosis, Cardiovascular
Orphanet:3389	EFO:1001442	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:1001442	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	213560	\N	\N	EFO	1	EFO	Tuberculosis	Tuberculosis, Cardiovascular
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001442	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	567396	\N	\N	EFO	2	EFO	disease	Tuberculosis, Cardiovascular
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001442	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	567397	\N	\N	EFO	2	EFO	respiratory system disease	Tuberculosis, Cardiovascular
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001442	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	567398	\N	\N	EFO	2	EFO	bacterial disease	Tuberculosis, Cardiovascular
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001442	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	3181685	\N	\N	EFO	5	EFO	disposition	Tuberculosis, Cardiovascular
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001442	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	1148836	\N	\N	EFO	3	EFO	disease	Tuberculosis, Cardiovascular
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001442	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	1148837	\N	\N	EFO	3	EFO	infectious disease	Tuberculosis, Cardiovascular
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001442	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	4066819	\N	\N	EFO	6	EFO	material property	Tuberculosis, Cardiovascular
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001442	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	2031073	\N	\N	EFO	4	EFO	disease	Tuberculosis, Cardiovascular
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001442	"Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	5059512	\N	\N	EFO	7	EFO	experimental factor	Tuberculosis, Cardiovascular
EFO:1001443	\N	\N	"Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." []	EFO:1001443	"Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." []	71027	\N	\N	EFO	0	EFO	Tuberculosis, Cutaneous	Tuberculosis, Cutaneous
Orphanet:3389	EFO:1001443	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	EFO:1001443	"Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." []	213561	\N	\N	EFO	1	EFO	Tuberculosis	Tuberculosis, Cutaneous
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001443	"Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." []	567399	\N	\N	EFO	2	EFO	respiratory system disease	Tuberculosis, Cutaneous
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001443	"Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." []	567400	\N	\N	EFO	2	EFO	bacterial disease	Tuberculosis, Cutaneous
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001443	"Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." []	1148838	\N	\N	EFO	3	EFO	disease	Tuberculosis, Cutaneous
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001443	"Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." []	1148839	\N	\N	EFO	3	EFO	infectious disease	Tuberculosis, Cutaneous
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001443	"Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." []	3181687	\N	\N	EFO	5	EFO	disposition	Tuberculosis, Cutaneous
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001443	"Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." []	2031075	\N	\N	EFO	4	EFO	disease	Tuberculosis, Cutaneous
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001443	"Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." []	4133125	\N	\N	EFO	6	EFO	material property	Tuberculosis, Cutaneous
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001443	"Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." []	5181355	\N	\N	EFO	7	EFO	experimental factor	Tuberculosis, Cutaneous
EFO:1001444	\N	\N	"A plague-like disease of rodents, transmissible to man. It is caused by FRANCISELLA TULARENSIS and is characterized by fever, chills, headache, backache, and weakness." []	EFO:1001444	"A plague-like disease of rodents, transmissible to man. It is caused by FRANCISELLA TULARENSIS and is characterized by fever, chills, headache, backache, and weakness." []	71028	\N	\N	EFO	0	EFO	Tularemia	Tularemia
EFO:0000771	EFO:1001444	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001444	"A plague-like disease of rodents, transmissible to man. It is caused by FRANCISELLA TULARENSIS and is characterized by fever, chills, headache, backache, and weakness." []	213562	\N	\N	EFO	1	EFO	bacterial disease	Tularemia
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001444	"A plague-like disease of rodents, transmissible to man. It is caused by FRANCISELLA TULARENSIS and is characterized by fever, chills, headache, backache, and weakness." []	567401	\N	\N	EFO	2	EFO	infectious disease	Tularemia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001444	"A plague-like disease of rodents, transmissible to man. It is caused by FRANCISELLA TULARENSIS and is characterized by fever, chills, headache, backache, and weakness." []	1148840	\N	\N	EFO	3	EFO	disease	Tularemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001444	"A plague-like disease of rodents, transmissible to man. It is caused by FRANCISELLA TULARENSIS and is characterized by fever, chills, headache, backache, and weakness." []	2031076	\N	\N	EFO	4	EFO	disposition	Tularemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001444	"A plague-like disease of rodents, transmissible to man. It is caused by FRANCISELLA TULARENSIS and is characterized by fever, chills, headache, backache, and weakness." []	3181688	\N	\N	EFO	5	EFO	material property	Tularemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001444	"A plague-like disease of rodents, transmissible to man. It is caused by FRANCISELLA TULARENSIS and is characterized by fever, chills, headache, backache, and weakness." []	4389969	\N	\N	EFO	6	EFO	experimental factor	Tularemia
EFO:1001445	\N	\N	"An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS." []	EFO:1001445	"An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS." []	71029	\N	\N	EFO	0	EFO	Tungiasis	Tungiasis
EFO:0000701	EFO:1001445	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001445	"An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS." []	213563	\N	\N	EFO	1	EFO	skin disease	Tungiasis
EFO:0001067	EFO:1001445	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001445	"An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS." []	213564	\N	\N	EFO	1	EFO	parasitic infection	Tungiasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001445	"An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS." []	567402	\N	\N	EFO	2	EFO	disease	Tungiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001445	"An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS." []	567403	\N	\N	EFO	2	EFO	infectious disease	Tungiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001445	"An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS." []	2031078	\N	\N	EFO	4	EFO	disposition	Tungiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001445	"An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS." []	1148842	\N	\N	EFO	3	EFO	disease	Tungiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001445	"An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS." []	3000089	\N	\N	EFO	5	EFO	material property	Tungiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001445	"An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS." []	4133126	\N	\N	EFO	6	EFO	experimental factor	Tungiasis
EFO:1001446	\N	\N	"A complication of OBSTETRIC LABOR in which the corpus of the UTERUS is forced completely or partially through the UTERINE CERVIX. This can occur during the late stages of labor and is associated with IMMEDIATE POSTPARTUM HEMORRHAGE." []	EFO:1001446	"A complication of OBSTETRIC LABOR in which the corpus of the UTERUS is forced completely or partially through the UTERINE CERVIX. This can occur during the late stages of labor and is associated with IMMEDIATE POSTPARTUM HEMORRHAGE." []	71030	\N	\N	EFO	0	EFO	Uterine Inversion	Uterine Inversion
EFO:0000512	EFO:1001446	\N	"any diease of the reproductive system" []	EFO:1001446	"A complication of OBSTETRIC LABOR in which the corpus of the UTERUS is forced completely or partially through the UTERINE CERVIX. This can occur during the late stages of labor and is associated with IMMEDIATE POSTPARTUM HEMORRHAGE." []	213565	\N	\N	EFO	1	EFO	reproductive system disease	Uterine Inversion
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001446	"A complication of OBSTETRIC LABOR in which the corpus of the UTERUS is forced completely or partially through the UTERINE CERVIX. This can occur during the late stages of labor and is associated with IMMEDIATE POSTPARTUM HEMORRHAGE." []	567404	\N	\N	EFO	2	EFO	disease	Uterine Inversion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001446	"A complication of OBSTETRIC LABOR in which the corpus of the UTERUS is forced completely or partially through the UTERINE CERVIX. This can occur during the late stages of labor and is associated with IMMEDIATE POSTPARTUM HEMORRHAGE." []	1148843	\N	\N	EFO	3	EFO	disposition	Uterine Inversion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001446	"A complication of OBSTETRIC LABOR in which the corpus of the UTERUS is forced completely or partially through the UTERINE CERVIX. This can occur during the late stages of labor and is associated with IMMEDIATE POSTPARTUM HEMORRHAGE." []	2031079	\N	\N	EFO	4	EFO	material property	Uterine Inversion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001446	"A complication of OBSTETRIC LABOR in which the corpus of the UTERUS is forced completely or partially through the UTERINE CERVIX. This can occur during the late stages of labor and is associated with IMMEDIATE POSTPARTUM HEMORRHAGE." []	3181690	\N	\N	EFO	5	EFO	experimental factor	Uterine Inversion
EFO:1001447	\N	\N	"Tumors or cancer of the VAGINA." []	EFO:1001447	"Tumors or cancer of the VAGINA." []	71031	\N	\N	EFO	0	EFO	Vaginal neoplasm	Vaginal neoplasm
EFO:0000512	EFO:1001447	\N	"any diease of the reproductive system" []	EFO:1001447	"Tumors or cancer of the VAGINA." []	213566	\N	\N	EFO	1	EFO	reproductive system disease	Vaginal neoplasm
EFO:0003863	EFO:1001447	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001447	"Tumors or cancer of the VAGINA." []	213567	\N	\N	EFO	1	EFO	urogenital neoplasm	Vaginal neoplasm
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001447	"Tumors or cancer of the VAGINA." []	567405	\N	\N	EFO	2	EFO	disease	Vaginal neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001447	"Tumors or cancer of the VAGINA." []	567406	\N	\N	EFO	2	EFO	neoplasm	Vaginal neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001447	"Tumors or cancer of the VAGINA." []	2031081	\N	\N	EFO	4	EFO	disposition	Vaginal neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001447	"Tumors or cancer of the VAGINA." []	1148845	\N	\N	EFO	3	EFO	disease	Vaginal neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001447	"Tumors or cancer of the VAGINA." []	3000090	\N	\N	EFO	5	EFO	material property	Vaginal neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001447	"Tumors or cancer of the VAGINA." []	4133127	\N	\N	EFO	6	EFO	experimental factor	Vaginal neoplasm
EFO:1001448	\N	\N	"Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS." []	EFO:1001448	"Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS." []	71032	\N	\N	EFO	0	EFO	Ventricular Outflow Obstruction	Ventricular Outflow Obstruction
EFO:0003777	EFO:1001448	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001448	"Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS." []	213568	\N	\N	EFO	1	EFO	heart disease	Ventricular Outflow Obstruction
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001448	"Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS." []	567407	\N	\N	EFO	2	EFO	cardiovascular disease	Ventricular Outflow Obstruction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001448	"Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS." []	1148846	\N	\N	EFO	3	EFO	disease	Ventricular Outflow Obstruction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001448	"Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS." []	2031082	\N	\N	EFO	4	EFO	disposition	Ventricular Outflow Obstruction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001448	"Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS." []	3181692	\N	\N	EFO	5	EFO	material property	Ventricular Outflow Obstruction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001448	"Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS." []	4389970	\N	\N	EFO	6	EFO	experimental factor	Ventricular Outflow Obstruction
EFO:1001449	\N	\N	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	EFO:1001449	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	71033	\N	\N	EFO	0	EFO	Vertebrobasilar insufficiency	Vertebrobasilar insufficiency
EFO:0004277	EFO:1001449	\N	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	EFO:1001449	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	213569	\N	\N	EFO	1	EFO	brain infarction	Vertebrobasilar insufficiency
EFO:0003763	EFO:0004277	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1001449	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	567408	\N	\N	EFO	2	EFO	cerebrovascular disorder	Vertebrobasilar insufficiency
EFO:0005774	EFO:0004277	\N	"A disease affecting the brain or part of the brain." []	EFO:1001449	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	567409	\N	\N	EFO	2	EFO	brain disease	Vertebrobasilar insufficiency
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001449	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	1148847	\N	\N	EFO	3	EFO	vascular disease	Vertebrobasilar insufficiency
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001449	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	1148848	\N	\N	EFO	3	EFO	nervous system disease	Vertebrobasilar insufficiency
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001449	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	2031083	\N	\N	EFO	4	EFO	cardiovascular disease	Vertebrobasilar insufficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001449	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	2031084	\N	\N	EFO	4	EFO	disease	Vertebrobasilar insufficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001449	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	3181693	\N	\N	EFO	5	EFO	disease	Vertebrobasilar insufficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001449	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	4389971	\N	\N	EFO	6	EFO	disposition	Vertebrobasilar insufficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001449	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	5181356	\N	\N	EFO	7	EFO	material property	Vertebrobasilar insufficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001449	"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []	5996769	\N	\N	EFO	8	EFO	experimental factor	Vertebrobasilar insufficiency
EFO:1001450	\N	\N	"A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase." []	EFO:1001450	"A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase." []	71034	\N	\N	EFO	0	EFO	Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome
EFO:0003777	EFO:1001450	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001450	"A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase." []	213570	\N	\N	EFO	1	EFO	heart disease	Wolff-Parkinson-White Syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001450	"A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase." []	567410	\N	\N	EFO	2	EFO	cardiovascular disease	Wolff-Parkinson-White Syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001450	"A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase." []	1148849	\N	\N	EFO	3	EFO	disease	Wolff-Parkinson-White Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001450	"A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase." []	2031085	\N	\N	EFO	4	EFO	disposition	Wolff-Parkinson-White Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001450	"A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase." []	3181695	\N	\N	EFO	5	EFO	material property	Wolff-Parkinson-White Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001450	"A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase." []	4389973	\N	\N	EFO	6	EFO	experimental factor	Wolff-Parkinson-White Syndrome
EFO:1001451	\N	\N	"Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified." []	EFO:1001451	"Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified." []	71035	\N	\N	EFO	0	EFO	X-Linked Combined Immunodeficiency Diseases	X-Linked Combined Immunodeficiency Diseases
Orphanet:183770	EFO:1001451	\N	"" []	EFO:1001451	"Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified." []	213571	\N	\N	EFO	1	EFO	Rare genetic immune disease	X-Linked Combined Immunodeficiency Diseases
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001451	"Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified." []	567411	\N	\N	EFO	2	EFO	genetic disorder	X-Linked Combined Immunodeficiency Diseases
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001451	"Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified." []	567412	\N	\N	EFO	2	EFO	immune system disease	X-Linked Combined Immunodeficiency Diseases
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001451	"Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified." []	1148850	\N	\N	EFO	3	EFO	disease	X-Linked Combined Immunodeficiency Diseases
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001451	"Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified." []	1148851	\N	\N	EFO	3	EFO	disease	X-Linked Combined Immunodeficiency Diseases
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001451	"Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified." []	2031086	\N	\N	EFO	4	EFO	disposition	X-Linked Combined Immunodeficiency Diseases
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001451	"Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified." []	3181696	\N	\N	EFO	5	EFO	material property	X-Linked Combined Immunodeficiency Diseases
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001451	"Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified." []	4389974	\N	\N	EFO	6	EFO	experimental factor	X-Linked Combined Immunodeficiency Diseases
EFO:1001452	\N	\N	"A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history." []	EFO:1001452	"A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history." []	71036	\N	\N	EFO	0	EFO	Yellow Nail Syndrome	Yellow Nail Syndrome
EFO:0000701	EFO:1001452	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001452	"A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history." []	213572	\N	\N	EFO	1	EFO	skin disease	Yellow Nail Syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001452	"A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history." []	567413	\N	\N	EFO	2	EFO	disease	Yellow Nail Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001452	"A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history." []	1148852	\N	\N	EFO	3	EFO	disposition	Yellow Nail Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001452	"A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history." []	2031087	\N	\N	EFO	4	EFO	material property	Yellow Nail Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001452	"A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history." []	3181697	\N	\N	EFO	5	EFO	experimental factor	Yellow Nail Syndrome
EFO:1001453	\N	\N	"HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." []	EFO:1001453	"HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." []	71037	\N	\N	EFO	0	EFO	Zoster Sine Herpete	Zoster Sine Herpete
EFO:0006510	EFO:1001453	\N	"A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." []	EFO:1001453	"HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." []	213573	\N	\N	EFO	1	EFO	Herpes Zoster	Zoster Sine Herpete
EFO:0006509	EFO:0006510	\N	"A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." []	EFO:1001453	"HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." []	567414	\N	\N	EFO	2	EFO	Varicella Zoster infection	Zoster Sine Herpete
EFO:0000763	EFO:0006509	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001453	"HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." []	1148853	\N	\N	EFO	3	EFO	viral disease	Zoster Sine Herpete
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001453	"HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." []	2031088	\N	\N	EFO	4	EFO	infectious disease	Zoster Sine Herpete
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001453	"HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." []	3181698	\N	\N	EFO	5	EFO	disease	Zoster Sine Herpete
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001453	"HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." []	4389975	\N	\N	EFO	6	EFO	disposition	Zoster Sine Herpete
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001453	"HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." []	5409506	\N	\N	EFO	7	EFO	material property	Zoster Sine Herpete
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001453	"HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." []	6147670	\N	\N	EFO	8	EFO	experimental factor	Zoster Sine Herpete
EFO:1001454	\N	\N	"Pathologic partial or complete loss of the ability to recall past experiences ( AMNESIA, RETROGRADE) or to form new memories ( AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)" []	EFO:1001454	"Pathologic partial or complete loss of the ability to recall past experiences ( AMNESIA, RETROGRADE) or to form new memories ( AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)" []	71038	\N	\N	EFO	0	EFO	amnesia	amnesia
EFO:1001457	EFO:1001454	\N	"Disturbances in mental processes related to learning, thinking, reasoning, and judgment." []	EFO:1001454	"Pathologic partial or complete loss of the ability to recall past experiences ( AMNESIA, RETROGRADE) or to form new memories ( AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)" []	213574	\N	\N	EFO	1	EFO	cognitive disorder	amnesia
EFO:0000677	EFO:1001457	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001454	"Pathologic partial or complete loss of the ability to recall past experiences ( AMNESIA, RETROGRADE) or to form new memories ( AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)" []	567415	\N	\N	EFO	2	EFO	mental or behavioural disorder	amnesia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001454	"Pathologic partial or complete loss of the ability to recall past experiences ( AMNESIA, RETROGRADE) or to form new memories ( AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)" []	1148854	\N	\N	EFO	3	EFO	brain disease	amnesia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001454	"Pathologic partial or complete loss of the ability to recall past experiences ( AMNESIA, RETROGRADE) or to form new memories ( AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)" []	2031089	\N	\N	EFO	4	EFO	nervous system disease	amnesia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001454	"Pathologic partial or complete loss of the ability to recall past experiences ( AMNESIA, RETROGRADE) or to form new memories ( AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)" []	3181699	\N	\N	EFO	5	EFO	disease	amnesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001454	"Pathologic partial or complete loss of the ability to recall past experiences ( AMNESIA, RETROGRADE) or to form new memories ( AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)" []	4389976	\N	\N	EFO	6	EFO	disposition	amnesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001454	"Pathologic partial or complete loss of the ability to recall past experiences ( AMNESIA, RETROGRADE) or to form new memories ( AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)" []	5409507	\N	\N	EFO	7	EFO	material property	amnesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001454	"Pathologic partial or complete loss of the ability to recall past experiences ( AMNESIA, RETROGRADE) or to form new memories ( AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)" []	6147671	\N	\N	EFO	8	EFO	experimental factor	amnesia
EFO:1001455	\N	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:1001455	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	71039	\N	\N	EFO	0	EFO	auditory system disease	auditory system disease
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1001455	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	213575	\N	\N	EFO	1	EFO	sensory system disease	auditory system disease
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001455	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	567416	\N	\N	EFO	2	EFO	nervous system disease	auditory system disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001455	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	1148855	\N	\N	EFO	3	EFO	disease	auditory system disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001455	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	2031090	\N	\N	EFO	4	EFO	disposition	auditory system disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001455	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	3181700	\N	\N	EFO	5	EFO	material property	auditory system disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001455	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	4389977	\N	\N	EFO	6	EFO	experimental factor	auditory system disease
EFO:1001456	\N	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:1001456	"Pathogenic infections of the brain, spinal cord, and meninges." []	71040	\N	\N	EFO	0	EFO	central nervous system infection	central nervous system infection
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001456	"Pathogenic infections of the brain, spinal cord, and meninges." []	213576	\N	\N	EFO	1	EFO	nervous system disease	central nervous system infection
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001456	"Pathogenic infections of the brain, spinal cord, and meninges." []	567417	\N	\N	EFO	2	EFO	disease	central nervous system infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001456	"Pathogenic infections of the brain, spinal cord, and meninges." []	1148856	\N	\N	EFO	3	EFO	disposition	central nervous system infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001456	"Pathogenic infections of the brain, spinal cord, and meninges." []	2031091	\N	\N	EFO	4	EFO	material property	central nervous system infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001456	"Pathogenic infections of the brain, spinal cord, and meninges." []	3181701	\N	\N	EFO	5	EFO	experimental factor	central nervous system infection
EFO:1001457	\N	\N	"Disturbances in mental processes related to learning, thinking, reasoning, and judgment." []	EFO:1001457	"Disturbances in mental processes related to learning, thinking, reasoning, and judgment." []	71041	\N	\N	EFO	0	EFO	cognitive disorder	cognitive disorder
EFO:0000677	EFO:1001457	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001457	"Disturbances in mental processes related to learning, thinking, reasoning, and judgment." []	213577	\N	\N	EFO	1	EFO	mental or behavioural disorder	cognitive disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001457	"Disturbances in mental processes related to learning, thinking, reasoning, and judgment." []	567418	\N	\N	EFO	2	EFO	brain disease	cognitive disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001457	"Disturbances in mental processes related to learning, thinking, reasoning, and judgment." []	1148857	\N	\N	EFO	3	EFO	nervous system disease	cognitive disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001457	"Disturbances in mental processes related to learning, thinking, reasoning, and judgment." []	2031092	\N	\N	EFO	4	EFO	disease	cognitive disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001457	"Disturbances in mental processes related to learning, thinking, reasoning, and judgment." []	3181702	\N	\N	EFO	5	EFO	disposition	cognitive disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001457	"Disturbances in mental processes related to learning, thinking, reasoning, and judgment." []	4389978	\N	\N	EFO	6	EFO	material property	cognitive disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001457	"Disturbances in mental processes related to learning, thinking, reasoning, and judgment." []	5409508	\N	\N	EFO	7	EFO	experimental factor	cognitive disorder
EFO:1001458	\N	\N	"Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder." []	EFO:1001458	"Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder." []	71042	\N	\N	EFO	0	EFO	diabetic cardiomyopathy	diabetic cardiomyopathy
EFO:0000318	EFO:1001458	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:1001458	"Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder." []	213578	\N	\N	EFO	1	EFO	cardiomyopathy	diabetic cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001458	"Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder." []	567419	\N	\N	EFO	2	EFO	heart disease	diabetic cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001458	"Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder." []	1148858	\N	\N	EFO	3	EFO	cardiovascular disease	diabetic cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001458	"Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder." []	2031093	\N	\N	EFO	4	EFO	disease	diabetic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001458	"Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder." []	3181703	\N	\N	EFO	5	EFO	disposition	diabetic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001458	"Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder." []	4389979	\N	\N	EFO	6	EFO	material property	diabetic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001458	"Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder." []	5409509	\N	\N	EFO	7	EFO	experimental factor	diabetic cardiomyopathy
EFO:1001459	\N	\N	"A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \\"chronic\\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." []	EFO:1001459	"A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \\"chronic\\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." []	71043	\N	\N	EFO	0	EFO	diabetic foot	diabetic foot
EFO:1000896	EFO:1001459	\N	"VASCULAR DISEASES that are associated with DIABETES MELLITUS." []	EFO:1001459	"A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \\"chronic\\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." []	213579	\N	\N	EFO	1	EFO	diabetic angiopathy	diabetic foot
EFO:0003875	EFO:1000896	\N	"Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART." []	EFO:1001459	"A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \\"chronic\\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." []	567420	\N	\N	EFO	2	EFO	peripheral vascular disease	diabetic foot
EFO:0004264	EFO:0003875	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001459	"A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \\"chronic\\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." []	1148859	\N	\N	EFO	3	EFO	vascular disease	diabetic foot
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001459	"A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \\"chronic\\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." []	2031094	\N	\N	EFO	4	EFO	cardiovascular disease	diabetic foot
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001459	"A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \\"chronic\\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." []	3181704	\N	\N	EFO	5	EFO	disease	diabetic foot
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001459	"A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \\"chronic\\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." []	4389980	\N	\N	EFO	6	EFO	disposition	diabetic foot
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001459	"A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \\"chronic\\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." []	5409510	\N	\N	EFO	7	EFO	material property	diabetic foot
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001459	"A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or \\"chronic\\") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome." []	6147672	\N	\N	EFO	8	EFO	experimental factor	diabetic foot
EFO:1001460	\N	\N	"An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall." []	EFO:1001460	"An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall." []	71044	\N	\N	EFO	0	EFO	diverticulitis	diverticulitis
EFO:1001463	EFO:1001460	\N	"INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER." []	EFO:1001460	"An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall." []	213580	\N	\N	EFO	1	EFO	gastroenteritis	diverticulitis
EFO:0000405	EFO:1001463	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001460	"An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall." []	567421	\N	\N	EFO	2	EFO	digestive system disease	diverticulitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001460	"An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall." []	1148860	\N	\N	EFO	3	EFO	disease	diverticulitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001460	"An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall." []	2031095	\N	\N	EFO	4	EFO	disposition	diverticulitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001460	"An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall." []	3181705	\N	\N	EFO	5	EFO	material property	diverticulitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001460	"An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall." []	4389981	\N	\N	EFO	6	EFO	experimental factor	diverticulitis
EFO:1001461	\N	\N	"In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium (the inner lining of blood vessels) and can be broadly defined as an imbalance between vasodilating and vasoconstricting substances produced by (or acting on) the endothelium. Normal functions of endothelial cells include mediation of coagulation, platelet adhesion, immune function and control of volume and electrolyte content of the intravascular and extravascular spaces." []	EFO:1001461	"In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium (the inner lining of blood vessels) and can be broadly defined as an imbalance between vasodilating and vasoconstricting substances produced by (or acting on) the endothelium. Normal functions of endothelial cells include mediation of coagulation, platelet adhesion, immune function and control of volume and electrolyte content of the intravascular and extravascular spaces." []	71045	\N	\N	EFO	0	EFO	endothelial dysfunction	endothelial dysfunction
EFO:0004264	EFO:1001461	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001461	"In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium (the inner lining of blood vessels) and can be broadly defined as an imbalance between vasodilating and vasoconstricting substances produced by (or acting on) the endothelium. Normal functions of endothelial cells include mediation of coagulation, platelet adhesion, immune function and control of volume and electrolyte content of the intravascular and extravascular spaces." []	213581	\N	\N	EFO	1	EFO	vascular disease	endothelial dysfunction
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001461	"In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium (the inner lining of blood vessels) and can be broadly defined as an imbalance between vasodilating and vasoconstricting substances produced by (or acting on) the endothelium. Normal functions of endothelial cells include mediation of coagulation, platelet adhesion, immune function and control of volume and electrolyte content of the intravascular and extravascular spaces." []	567422	\N	\N	EFO	2	EFO	cardiovascular disease	endothelial dysfunction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001461	"In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium (the inner lining of blood vessels) and can be broadly defined as an imbalance between vasodilating and vasoconstricting substances produced by (or acting on) the endothelium. Normal functions of endothelial cells include mediation of coagulation, platelet adhesion, immune function and control of volume and electrolyte content of the intravascular and extravascular spaces." []	1148861	\N	\N	EFO	3	EFO	disease	endothelial dysfunction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001461	"In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium (the inner lining of blood vessels) and can be broadly defined as an imbalance between vasodilating and vasoconstricting substances produced by (or acting on) the endothelium. Normal functions of endothelial cells include mediation of coagulation, platelet adhesion, immune function and control of volume and electrolyte content of the intravascular and extravascular spaces." []	2031096	\N	\N	EFO	4	EFO	disposition	endothelial dysfunction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001461	"In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium (the inner lining of blood vessels) and can be broadly defined as an imbalance between vasodilating and vasoconstricting substances produced by (or acting on) the endothelium. Normal functions of endothelial cells include mediation of coagulation, platelet adhesion, immune function and control of volume and electrolyte content of the intravascular and extravascular spaces." []	3181706	\N	\N	EFO	5	EFO	material property	endothelial dysfunction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001461	"In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium (the inner lining of blood vessels) and can be broadly defined as an imbalance between vasodilating and vasoconstricting substances produced by (or acting on) the endothelium. Normal functions of endothelial cells include mediation of coagulation, platelet adhesion, immune function and control of volume and electrolyte content of the intravascular and extravascular spaces." []	4389982	\N	\N	EFO	6	EFO	experimental factor	endothelial dysfunction
EFO:1001462	\N	\N	"an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin." []	EFO:1001462	"an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin." []	71046	\N	\N	EFO	0	EFO	erysipelas	erysipelas
EFO:1001476	EFO:1001462	\N	"Infections with bacteria of the genus STREPTOCOCCUS." []	EFO:1001462	"an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin." []	213582	\N	\N	EFO	1	EFO	streptococcal infection	erysipelas
EFO:0000771	EFO:1001476	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001462	"an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin." []	567423	\N	\N	EFO	2	EFO	bacterial disease	erysipelas
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001462	"an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin." []	1148862	\N	\N	EFO	3	EFO	infectious disease	erysipelas
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001462	"an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin." []	2031097	\N	\N	EFO	4	EFO	disease	erysipelas
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001462	"an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin." []	3181707	\N	\N	EFO	5	EFO	disposition	erysipelas
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001462	"an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin." []	4389983	\N	\N	EFO	6	EFO	material property	erysipelas
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001462	"an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin." []	5409511	\N	\N	EFO	7	EFO	experimental factor	erysipelas
EFO:1001463	\N	\N	"INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER." []	EFO:1001463	"INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER." []	71047	\N	\N	EFO	0	EFO	gastroenteritis	gastroenteritis
EFO:0000405	EFO:1001463	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001463	"INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER." []	213583	\N	\N	EFO	1	EFO	digestive system disease	gastroenteritis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001463	"INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER." []	567424	\N	\N	EFO	2	EFO	disease	gastroenteritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001463	"INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER." []	1148863	\N	\N	EFO	3	EFO	disposition	gastroenteritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001463	"INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER." []	2031098	\N	\N	EFO	4	EFO	material property	gastroenteritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001463	"INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER." []	3181708	\N	\N	EFO	5	EFO	experimental factor	gastroenteritis
EFO:1001464	\N	\N	"" []	EFO:1001464	"" []	71048	\N	\N	EFO	0	EFO	glial brain cell	glial brain cell
EFO:0000324	EFO:1001464	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:1001464	"" []	213584	\N	\N	EFO	1	EFO	cell type	glial brain cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:1001464	"" []	567425	\N	\N	EFO	2	EFO	material entity	glial brain cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001464	"" []	1148864	\N	\N	EFO	3	EFO	experimental factor	glial brain cell
EFO:1001465	\N	\N	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	71049	\N	\N	EFO	0	EFO	gliosarcoma	gliosarcoma
EFO:0000519	EFO:1001465	\N	"The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)" []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	213585	\N	\N	EFO	1	EFO	glioblastoma multiforme	gliosarcoma
EFO:0000272	EFO:0000519	\N	"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)" []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	567426	\N	\N	EFO	2	EFO	astrocytoma	gliosarcoma
EFO:0005543	EFO:0000272	\N	"A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	1148865	\N	\N	EFO	3	EFO	glioma	gliosarcoma
EFO:0000326	EFO:0005543	\N	"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH)." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	2031099	\N	\N	EFO	4	EFO	central nervous system cancer	gliosarcoma
EFO:0003833	EFO:0005543	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	2031100	\N	\N	EFO	4	EFO	brain neoplasm	gliosarcoma
EFO:0000311	EFO:0000326	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	3181709	\N	\N	EFO	5	EFO	cancer	gliosarcoma
EFO:0000618	EFO:0000326	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	3181710	\N	\N	EFO	5	EFO	nervous system disease	gliosarcoma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	3181711	\N	\N	EFO	5	EFO	neoplasm	gliosarcoma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	3181712	\N	\N	EFO	5	EFO	brain disease	gliosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	4389984	\N	\N	EFO	6	EFO	neoplasm	gliosarcoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	5409514	\N	\N	EFO	7	EFO	disease	gliosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	5409512	\N	\N	EFO	7	EFO	disease	gliosarcoma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	4389987	\N	\N	EFO	6	EFO	nervous system disease	gliosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	5996770	\N	\N	EFO	8	EFO	disposition	gliosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	6550420	\N	\N	EFO	9	EFO	material property	gliosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001465	"Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components." []	6888986	\N	\N	EFO	10	EFO	experimental factor	gliosarcoma
EFO:1001466	\N	\N	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	71050	\N	\N	EFO	0	EFO	Graves ophthalmopathy	Graves ophthalmopathy
EFO:0003966	EFO:1001466	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	213586	\N	\N	EFO	1	EFO	eye disease	Graves ophthalmopathy
EFO:0004237	EFO:1001466	\N	"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)." []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	213587	\N	\N	EFO	1	EFO	Graves disease	Graves ophthalmopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	567427	\N	\N	EFO	2	EFO	disease	Graves ophthalmopathy
EFO:0005809	EFO:0004237	\N	"Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	567428	\N	\N	EFO	2	EFO	type II hypersensitivity reaction disease	Graves ophthalmopathy
EFO:0006812	EFO:0004237	\N	"a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroids cells, thereby destroying it.\\n\\nIt presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters." []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	567429	\N	\N	EFO	2	EFO	autoimmune thyroid disease	Graves ophthalmopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	4389988	\N	\N	EFO	6	EFO	disposition	Graves ophthalmopathy
EFO:1002003	EFO:0005809	\N	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	1148867	\N	\N	EFO	3	EFO	hypersensitivity reaction disease	Graves ophthalmopathy
EFO:0005140	EFO:0006812	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	1148868	\N	\N	EFO	3	EFO	autoimmune disease	Graves ophthalmopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	5028368	\N	\N	EFO	7	EFO	material property	Graves ophthalmopathy
EFO:0000540	EFO:1002003	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	2031102	\N	\N	EFO	4	EFO	immune system disease	Graves ophthalmopathy
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	2031103	\N	\N	EFO	4	EFO	immune system disease	Graves ophthalmopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	5817412	\N	\N	EFO	8	EFO	experimental factor	Graves ophthalmopathy
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001466	"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy." []	3181714	\N	\N	EFO	5	EFO	disease	Graves ophthalmopathy
EFO:1001467	\N	\N	"The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil count (? 1500 eosinophils/mm) in the blood for at least six months without any recognizable cause, with involvement of either the heart, nervous system, or bone marrow. HES is a diagnosis of exclusion, after clonal eosinophilia (such as leukemia) and reactive eosinophilia (in response to infection, autoimmune disease, atopy, hypoadrenalism, tropical eosinophilia, or cancer) have been ruled out." []	EFO:1001467	"The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil count (? 1500 eosinophils/mm) in the blood for at least six months without any recognizable cause, with involvement of either the heart, nervous system, or bone marrow. HES is a diagnosis of exclusion, after clonal eosinophilia (such as leukemia) and reactive eosinophilia (in response to infection, autoimmune disease, atopy, hypoadrenalism, tropical eosinophilia, or cancer) have been ruled out." []	71051	\N	\N	EFO	0	EFO	Hypereosinophilic syndrome	Hypereosinophilic syndrome
Orphanet:158300	EFO:1001467	\N	"" []	EFO:1001467	"The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil count (? 1500 eosinophils/mm) in the blood for at least six months without any recognizable cause, with involvement of either the heart, nervous system, or bone marrow. HES is a diagnosis of exclusion, after clonal eosinophilia (such as leukemia) and reactive eosinophilia (in response to infection, autoimmune disease, atopy, hypoadrenalism, tropical eosinophilia, or cancer) have been ruled out." []	213588	\N	\N	EFO	1	EFO	Rare genetic hematologic disease	Hypereosinophilic syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001467	"The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil count (? 1500 eosinophils/mm) in the blood for at least six months without any recognizable cause, with involvement of either the heart, nervous system, or bone marrow. HES is a diagnosis of exclusion, after clonal eosinophilia (such as leukemia) and reactive eosinophilia (in response to infection, autoimmune disease, atopy, hypoadrenalism, tropical eosinophilia, or cancer) have been ruled out." []	567430	\N	\N	EFO	2	EFO	genetic disorder	Hypereosinophilic syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001467	"The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil count (? 1500 eosinophils/mm) in the blood for at least six months without any recognizable cause, with involvement of either the heart, nervous system, or bone marrow. HES is a diagnosis of exclusion, after clonal eosinophilia (such as leukemia) and reactive eosinophilia (in response to infection, autoimmune disease, atopy, hypoadrenalism, tropical eosinophilia, or cancer) have been ruled out." []	567431	\N	\N	EFO	2	EFO	hematological system disease	Hypereosinophilic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001467	"The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil count (? 1500 eosinophils/mm) in the blood for at least six months without any recognizable cause, with involvement of either the heart, nervous system, or bone marrow. HES is a diagnosis of exclusion, after clonal eosinophilia (such as leukemia) and reactive eosinophilia (in response to infection, autoimmune disease, atopy, hypoadrenalism, tropical eosinophilia, or cancer) have been ruled out." []	1148869	\N	\N	EFO	3	EFO	disease	Hypereosinophilic syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001467	"The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil count (? 1500 eosinophils/mm) in the blood for at least six months without any recognizable cause, with involvement of either the heart, nervous system, or bone marrow. HES is a diagnosis of exclusion, after clonal eosinophilia (such as leukemia) and reactive eosinophilia (in response to infection, autoimmune disease, atopy, hypoadrenalism, tropical eosinophilia, or cancer) have been ruled out." []	1148870	\N	\N	EFO	3	EFO	disease	Hypereosinophilic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001467	"The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil count (? 1500 eosinophils/mm) in the blood for at least six months without any recognizable cause, with involvement of either the heart, nervous system, or bone marrow. HES is a diagnosis of exclusion, after clonal eosinophilia (such as leukemia) and reactive eosinophilia (in response to infection, autoimmune disease, atopy, hypoadrenalism, tropical eosinophilia, or cancer) have been ruled out." []	2031104	\N	\N	EFO	4	EFO	disposition	Hypereosinophilic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001467	"The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil count (? 1500 eosinophils/mm) in the blood for at least six months without any recognizable cause, with involvement of either the heart, nervous system, or bone marrow. HES is a diagnosis of exclusion, after clonal eosinophilia (such as leukemia) and reactive eosinophilia (in response to infection, autoimmune disease, atopy, hypoadrenalism, tropical eosinophilia, or cancer) have been ruled out." []	3181715	\N	\N	EFO	5	EFO	material property	Hypereosinophilic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001467	"The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil count (? 1500 eosinophils/mm) in the blood for at least six months without any recognizable cause, with involvement of either the heart, nervous system, or bone marrow. HES is a diagnosis of exclusion, after clonal eosinophilia (such as leukemia) and reactive eosinophilia (in response to infection, autoimmune disease, atopy, hypoadrenalism, tropical eosinophilia, or cancer) have been ruled out." []	4389989	\N	\N	EFO	6	EFO	experimental factor	Hypereosinophilic syndrome
EFO:1001468	\N	\N	"" []	EFO:1001468	"" []	71052	\N	\N	EFO	0	EFO	mantle cell	mantle cell
EFO:0000324	EFO:1001468	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:1001468	"" []	213589	\N	\N	EFO	1	EFO	cell type	mantle cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:1001468	"" []	567432	\N	\N	EFO	2	EFO	material entity	mantle cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001468	"" []	1148871	\N	\N	EFO	3	EFO	experimental factor	mantle cell
EFO:1001469	\N	\N	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	EFO:1001469	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	71053	\N	\N	EFO	0	EFO	Mantle cell lymphoma	Mantle cell lymphoma
EFO:0005952	EFO:1001469	\N	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	EFO:1001469	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	213590	\N	\N	EFO	1	EFO	non-Hodgkins lymphoma	Mantle cell lymphoma
EFO:0000574	EFO:0005952	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1001469	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	567433	\N	\N	EFO	2	EFO	lymphoma	Mantle cell lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001469	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	1148872	\N	\N	EFO	3	EFO	lymphoid neoplasm	Mantle cell lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001469	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	2031105	\N	\N	EFO	4	EFO	cancer	Mantle cell lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001469	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	2031106	\N	\N	EFO	4	EFO	hematological system disease	Mantle cell lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001469	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	3181716	\N	\N	EFO	5	EFO	neoplasm	Mantle cell lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001469	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	3181717	\N	\N	EFO	5	EFO	disease	Mantle cell lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001469	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	4389990	\N	\N	EFO	6	EFO	disease	Mantle cell lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001469	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	5409515	\N	\N	EFO	7	EFO	disposition	Mantle cell lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001469	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	5996771	\N	\N	EFO	8	EFO	material property	Mantle cell lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001469	"a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes  the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes." []	6550421	\N	\N	EFO	9	EFO	experimental factor	Mantle cell lymphoma
EFO:1001470	\N	\N	"" []	EFO:1001470	"" []	71054	\N	\N	EFO	0	EFO	merkel cell	merkel cell
EFO:0000324	EFO:1001470	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	EFO:1001470	"" []	213591	\N	\N	EFO	1	EFO	cell type	merkel cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EFO:1001470	"" []	567434	\N	\N	EFO	2	EFO	material entity	merkel cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001470	"" []	1148873	\N	\N	EFO	3	EFO	experimental factor	merkel cell
EFO:1001471	\N	\N	"A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" []	EFO:1001471	"A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" []	71055	\N	\N	EFO	0	EFO	Merkel cell skin cancer	Merkel cell skin cancer
EFO:0004198	EFO:1001471	\N	"Tumors or cancer of the SKIN." []	EFO:1001471	"A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" []	213592	\N	\N	EFO	1	EFO	skin neoplasm	Merkel cell skin cancer
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001471	"A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" []	567435	\N	\N	EFO	2	EFO	neoplasm	Merkel cell skin cancer
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001471	"A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" []	567436	\N	\N	EFO	2	EFO	skin disease	Merkel cell skin cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001471	"A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" []	1148874	\N	\N	EFO	3	EFO	disease	Merkel cell skin cancer
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001471	"A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" []	1148875	\N	\N	EFO	3	EFO	disease	Merkel cell skin cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001471	"A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" []	2031107	\N	\N	EFO	4	EFO	disposition	Merkel cell skin cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001471	"A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" []	3181718	\N	\N	EFO	5	EFO	material property	Merkel cell skin cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001471	"A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" []	4389992	\N	\N	EFO	6	EFO	experimental factor	Merkel cell skin cancer
EFO:1001472	\N	\N	"Inflammation of the spinal cord." []	EFO:1001472	"Inflammation of the spinal cord." []	71056	\N	\N	EFO	0	EFO	Myelitis	Myelitis
EFO:1001456	EFO:1001472	\N	"Pathogenic infections of the brain, spinal cord, and meninges." []	EFO:1001472	"Inflammation of the spinal cord." []	213593	\N	\N	EFO	1	EFO	central nervous system infection	Myelitis
EFO:0000618	EFO:1001456	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001472	"Inflammation of the spinal cord." []	567437	\N	\N	EFO	2	EFO	nervous system disease	Myelitis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001472	"Inflammation of the spinal cord." []	1148876	\N	\N	EFO	3	EFO	disease	Myelitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001472	"Inflammation of the spinal cord." []	2031108	\N	\N	EFO	4	EFO	disposition	Myelitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001472	"Inflammation of the spinal cord." []	3181719	\N	\N	EFO	5	EFO	material property	Myelitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001472	"Inflammation of the spinal cord." []	4389993	\N	\N	EFO	6	EFO	experimental factor	Myelitis
EFO:1001473	\N	\N	"a restrictive cardiomyopathy not inherited through genetics" []	EFO:1001473	"a restrictive cardiomyopathy not inherited through genetics" []	71057	\N	\N	EFO	0	EFO	Non-familial restrictive cardiomyopathy	Non-familial restrictive cardiomyopathy
EFO:0000318	EFO:1001473	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:1001473	"a restrictive cardiomyopathy not inherited through genetics" []	213594	\N	\N	EFO	1	EFO	cardiomyopathy	Non-familial restrictive cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001473	"a restrictive cardiomyopathy not inherited through genetics" []	567438	\N	\N	EFO	2	EFO	heart disease	Non-familial restrictive cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001473	"a restrictive cardiomyopathy not inherited through genetics" []	1148877	\N	\N	EFO	3	EFO	cardiovascular disease	Non-familial restrictive cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001473	"a restrictive cardiomyopathy not inherited through genetics" []	2031109	\N	\N	EFO	4	EFO	disease	Non-familial restrictive cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001473	"a restrictive cardiomyopathy not inherited through genetics" []	3181720	\N	\N	EFO	5	EFO	disposition	Non-familial restrictive cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001473	"a restrictive cardiomyopathy not inherited through genetics" []	4389994	\N	\N	EFO	6	EFO	material property	Non-familial restrictive cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001473	"a restrictive cardiomyopathy not inherited through genetics" []	5409517	\N	\N	EFO	7	EFO	experimental factor	Non-familial restrictive cardiomyopathy
EFO:1001474	\N	\N	"A febrile disease caused by STREPTOCOCCUS PNEUMONIAE." []	EFO:1001474	"A febrile disease caused by STREPTOCOCCUS PNEUMONIAE." []	71058	\N	\N	EFO	0	EFO	pneumococcal pneumonia	pneumococcal pneumonia
EFO:0000772	EFO:1001474	\N	"Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." []	EFO:1001474	"A febrile disease caused by STREPTOCOCCUS PNEUMONIAE." []	213595	\N	\N	EFO	1	EFO	pneumococcal infection	pneumococcal pneumonia
EFO:0000771	EFO:0000772	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001474	"A febrile disease caused by STREPTOCOCCUS PNEUMONIAE." []	567439	\N	\N	EFO	2	EFO	bacterial disease	pneumococcal pneumonia
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001474	"A febrile disease caused by STREPTOCOCCUS PNEUMONIAE." []	1148878	\N	\N	EFO	3	EFO	infectious disease	pneumococcal pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001474	"A febrile disease caused by STREPTOCOCCUS PNEUMONIAE." []	2031110	\N	\N	EFO	4	EFO	disease	pneumococcal pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001474	"A febrile disease caused by STREPTOCOCCUS PNEUMONIAE." []	3181721	\N	\N	EFO	5	EFO	disposition	pneumococcal pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001474	"A febrile disease caused by STREPTOCOCCUS PNEUMONIAE." []	4389995	\N	\N	EFO	6	EFO	material property	pneumococcal pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001474	"A febrile disease caused by STREPTOCOCCUS PNEUMONIAE." []	5409518	\N	\N	EFO	7	EFO	experimental factor	pneumococcal pneumonia
EFO:1001475	\N	\N	"Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East),SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States." []	EFO:1001475	"Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East),SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States." []	71059	\N	\N	EFO	0	EFO	schistosomiasis	schistosomiasis
EFO:0001067	EFO:1001475	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001475	"Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East),SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States." []	213596	\N	\N	EFO	1	EFO	parasitic infection	schistosomiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001475	"Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East),SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States." []	567440	\N	\N	EFO	2	EFO	infectious disease	schistosomiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001475	"Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East),SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States." []	1148879	\N	\N	EFO	3	EFO	disease	schistosomiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001475	"Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East),SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States." []	2031111	\N	\N	EFO	4	EFO	disposition	schistosomiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001475	"Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East),SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States." []	3181722	\N	\N	EFO	5	EFO	material property	schistosomiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001475	"Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East),SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States." []	4389996	\N	\N	EFO	6	EFO	experimental factor	schistosomiasis
EFO:1001476	\N	\N	"Infections with bacteria of the genus STREPTOCOCCUS." []	EFO:1001476	"Infections with bacteria of the genus STREPTOCOCCUS." []	71060	\N	\N	EFO	0	EFO	streptococcal infection	streptococcal infection
EFO:0000771	EFO:1001476	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001476	"Infections with bacteria of the genus STREPTOCOCCUS." []	213597	\N	\N	EFO	1	EFO	bacterial disease	streptococcal infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001476	"Infections with bacteria of the genus STREPTOCOCCUS." []	567441	\N	\N	EFO	2	EFO	infectious disease	streptococcal infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001476	"Infections with bacteria of the genus STREPTOCOCCUS." []	1148880	\N	\N	EFO	3	EFO	disease	streptococcal infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001476	"Infections with bacteria of the genus STREPTOCOCCUS." []	2031112	\N	\N	EFO	4	EFO	disposition	streptococcal infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001476	"Infections with bacteria of the genus STREPTOCOCCUS." []	3181723	\N	\N	EFO	5	EFO	material property	streptococcal infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001476	"Infections with bacteria of the genus STREPTOCOCCUS." []	4389997	\N	\N	EFO	6	EFO	experimental factor	streptococcal infection
EFO:1001477	\N	\N	"Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia." []	EFO:1001477	"Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia." []	71061	\N	\N	EFO	0	EFO	Systemic capillary leak syndrome	Systemic capillary leak syndrome
EFO:0004264	EFO:1001477	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001477	"Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia." []	213598	\N	\N	EFO	1	EFO	vascular disease	Systemic capillary leak syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001477	"Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia." []	567442	\N	\N	EFO	2	EFO	cardiovascular disease	Systemic capillary leak syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001477	"Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia." []	1148881	\N	\N	EFO	3	EFO	disease	Systemic capillary leak syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001477	"Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia." []	2031113	\N	\N	EFO	4	EFO	disposition	Systemic capillary leak syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001477	"Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia." []	3181724	\N	\N	EFO	5	EFO	material property	Systemic capillary leak syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001477	"Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia." []	4389998	\N	\N	EFO	6	EFO	experimental factor	Systemic capillary leak syndrome
EFO:1001478	\N	\N	"SIRS is a serious condition related to systemic inflammation, organ dysfunction, and organ failure. It is a subset of cytokine storm, in which there is abnormal regulation of various cytokines. SIRS is also closely related to sepsis, in which patients satisfy criteria for SIRS and have a suspected or proven infection." []	EFO:1001478	"SIRS is a serious condition related to systemic inflammation, organ dysfunction, and organ failure. It is a subset of cytokine storm, in which there is abnormal regulation of various cytokines. SIRS is also closely related to sepsis, in which patients satisfy criteria for SIRS and have a suspected or proven infection." []	71062	\N	\N	EFO	0	EFO	systemic inflammatory response syndrome	systemic inflammatory response syndrome
MP:0001845	EFO:1001478	\N	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	EFO:1001478	"SIRS is a serious condition related to systemic inflammation, organ dysfunction, and organ failure. It is a subset of cytokine storm, in which there is abnormal regulation of various cytokines. SIRS is also closely related to sepsis, in which patients satisfy criteria for SIRS and have a suspected or proven infection." []	213599	\N	\N	EFO	1	EFO	inflammation	systemic inflammatory response syndrome
EFO:1001479	\N	\N	"a group of metabolic abnormalities that can occur as a complication during the treatment of cancer, most commonly after the treatment of lymphomas and leukemias." []	EFO:1001479	"a group of metabolic abnormalities that can occur as a complication during the treatment of cancer, most commonly after the treatment of lymphomas and leukemias." []	71063	\N	\N	EFO	0	EFO	Tumor Lysis Syndrome	Tumor Lysis Syndrome
EFO:0000589	EFO:1001479	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001479	"a group of metabolic abnormalities that can occur as a complication during the treatment of cancer, most commonly after the treatment of lymphomas and leukemias." []	213600	\N	\N	EFO	1	EFO	metabolic disease	Tumor Lysis Syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001479	"a group of metabolic abnormalities that can occur as a complication during the treatment of cancer, most commonly after the treatment of lymphomas and leukemias." []	567443	\N	\N	EFO	2	EFO	disease	Tumor Lysis Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001479	"a group of metabolic abnormalities that can occur as a complication during the treatment of cancer, most commonly after the treatment of lymphomas and leukemias." []	1148882	\N	\N	EFO	3	EFO	disposition	Tumor Lysis Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001479	"a group of metabolic abnormalities that can occur as a complication during the treatment of cancer, most commonly after the treatment of lymphomas and leukemias." []	2031114	\N	\N	EFO	4	EFO	material property	Tumor Lysis Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001479	"a group of metabolic abnormalities that can occur as a complication during the treatment of cancer, most commonly after the treatment of lymphomas and leukemias." []	3181725	\N	\N	EFO	5	EFO	experimental factor	Tumor Lysis Syndrome
EFO:1001480	\N	\N	"colorectal cancer that has already spread to distant sites and is considered stage IV" []	EFO:1001480	"colorectal cancer that has already spread to distant sites and is considered stage IV" []	71064	\N	\N	EFO	0	EFO	metastatic colorectal cancer	metastatic colorectal cancer
EFO:0005842	EFO:1001480	\N	"A large intestine cancer that is located in the colon and/or located in the rectum." []	EFO:1001480	"colorectal cancer that has already spread to distant sites and is considered stage IV" []	213601	\N	\N	EFO	1	EFO	colorectal cancer	metastatic colorectal cancer
EFO:0000311	EFO:0005842	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001480	"colorectal cancer that has already spread to distant sites and is considered stage IV" []	567444	\N	\N	EFO	2	EFO	cancer	metastatic colorectal cancer
EFO:0000405	EFO:0005842	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001480	"colorectal cancer that has already spread to distant sites and is considered stage IV" []	567445	\N	\N	EFO	2	EFO	digestive system disease	metastatic colorectal cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001480	"colorectal cancer that has already spread to distant sites and is considered stage IV" []	1148883	\N	\N	EFO	3	EFO	neoplasm	metastatic colorectal cancer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001480	"colorectal cancer that has already spread to distant sites and is considered stage IV" []	1148884	\N	\N	EFO	3	EFO	disease	metastatic colorectal cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001480	"colorectal cancer that has already spread to distant sites and is considered stage IV" []	2031115	\N	\N	EFO	4	EFO	disease	metastatic colorectal cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001480	"colorectal cancer that has already spread to distant sites and is considered stage IV" []	3181726	\N	\N	EFO	5	EFO	disposition	metastatic colorectal cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001480	"colorectal cancer that has already spread to distant sites and is considered stage IV" []	4133128	\N	\N	EFO	6	EFO	material property	metastatic colorectal cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001480	"colorectal cancer that has already spread to distant sites and is considered stage IV" []	5181357	\N	\N	EFO	7	EFO	experimental factor	metastatic colorectal cancer
EFO:1001481	\N	\N	"Enterocolitis or coloenteritis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or  most frequently  by significant losses of water and minerals, the consequence of diarrhea and vomiting." []	EFO:1001481	"Enterocolitis or coloenteritis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or  most frequently  by significant losses of water and minerals, the consequence of diarrhea and vomiting." []	71065	\N	\N	EFO	0	EFO	enterocolitis	enterocolitis
EFO:0000405	EFO:1001481	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001481	"Enterocolitis or coloenteritis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or  most frequently  by significant losses of water and minerals, the consequence of diarrhea and vomiting." []	213602	\N	\N	EFO	1	EFO	digestive system disease	enterocolitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001481	"Enterocolitis or coloenteritis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or  most frequently  by significant losses of water and minerals, the consequence of diarrhea and vomiting." []	567446	\N	\N	EFO	2	EFO	disease	enterocolitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001481	"Enterocolitis or coloenteritis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or  most frequently  by significant losses of water and minerals, the consequence of diarrhea and vomiting." []	1148885	\N	\N	EFO	3	EFO	disposition	enterocolitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001481	"Enterocolitis or coloenteritis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or  most frequently  by significant losses of water and minerals, the consequence of diarrhea and vomiting." []	2031117	\N	\N	EFO	4	EFO	material property	enterocolitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001481	"Enterocolitis or coloenteritis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or  most frequently  by significant losses of water and minerals, the consequence of diarrhea and vomiting." []	3181728	\N	\N	EFO	5	EFO	experimental factor	enterocolitis
EFO:1001482	\N	\N	"Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue." []	EFO:1001482	"Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue." []	71066	\N	\N	EFO	0	EFO	cardiotoxicity	cardiotoxicity
EFO:0003777	EFO:1001482	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001482	"Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue." []	213603	\N	\N	EFO	1	EFO	heart disease	cardiotoxicity
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001482	"Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue." []	567447	\N	\N	EFO	2	EFO	cardiovascular disease	cardiotoxicity
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001482	"Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue." []	1148886	\N	\N	EFO	3	EFO	disease	cardiotoxicity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001482	"Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue." []	2031118	\N	\N	EFO	4	EFO	disposition	cardiotoxicity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001482	"Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue." []	3181729	\N	\N	EFO	5	EFO	material property	cardiotoxicity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001482	"Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue." []	4390000	\N	\N	EFO	6	EFO	experimental factor	cardiotoxicity
EFO:1001483	\N	\N	"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." []	EFO:1001483	"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." []	71067	\N	\N	EFO	0	EFO	non-obstructive coronary artery disease	non-obstructive coronary artery disease
EFO:0000378	EFO:1001483	\N	"Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)." []	EFO:1001483	"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." []	213604	\N	\N	EFO	1	EFO	coronary artery disease	non-obstructive coronary artery disease
EFO:0004264	EFO:1001483	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001483	"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." []	213605	\N	\N	EFO	1	EFO	vascular disease	non-obstructive coronary artery disease
EFO:0001645	EFO:0000378	\N	"Narrowing of the coronary arteries due to fatty deposits inside the arterial walls." []	EFO:1001483	"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." []	567448	\N	\N	EFO	2	EFO	coronary heart disease	non-obstructive coronary artery disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001483	"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." []	567449	\N	\N	EFO	2	EFO	cardiovascular disease	non-obstructive coronary artery disease
EFO:0003777	EFO:0001645	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001483	"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." []	1148887	\N	\N	EFO	3	EFO	heart disease	non-obstructive coronary artery disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001483	"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." []	3181730	\N	\N	EFO	5	EFO	disease	non-obstructive coronary artery disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001483	"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." []	2031119	\N	\N	EFO	4	EFO	cardiovascular disease	non-obstructive coronary artery disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001483	"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." []	4066820	\N	\N	EFO	6	EFO	disposition	non-obstructive coronary artery disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001483	"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." []	5059513	\N	\N	EFO	7	EFO	material property	non-obstructive coronary artery disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001483	"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." []	5876658	\N	\N	EFO	8	EFO	experimental factor	non-obstructive coronary artery disease
EFO:1001484	\N	\N	"An agnosia that is a loss of the ability to perceive and process pain. \\n\\nPain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are adipose tissue and integument. " []	EFO:1001484	"An agnosia that is a loss of the ability to perceive and process pain. \\n\\nPain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are adipose tissue and integument. " []	71068	\N	\N	EFO	0	EFO	pain agnosia	pain agnosia
EFO:0007136	EFO:1001484	\N	"A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." []	EFO:1001484	"An agnosia that is a loss of the ability to perceive and process pain. \\n\\nPain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are adipose tissue and integument. " []	213606	\N	\N	EFO	1	EFO	agnosia	pain agnosia
EFO:0000677	EFO:0007136	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001484	"An agnosia that is a loss of the ability to perceive and process pain. \\n\\nPain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are adipose tissue and integument. " []	567450	\N	\N	EFO	2	EFO	mental or behavioural disorder	pain agnosia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001484	"An agnosia that is a loss of the ability to perceive and process pain. \\n\\nPain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are adipose tissue and integument. " []	1148889	\N	\N	EFO	3	EFO	brain disease	pain agnosia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001484	"An agnosia that is a loss of the ability to perceive and process pain. \\n\\nPain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are adipose tissue and integument. " []	2031121	\N	\N	EFO	4	EFO	nervous system disease	pain agnosia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001484	"An agnosia that is a loss of the ability to perceive and process pain. \\n\\nPain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are adipose tissue and integument. " []	3181732	\N	\N	EFO	5	EFO	disease	pain agnosia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001484	"An agnosia that is a loss of the ability to perceive and process pain. \\n\\nPain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are adipose tissue and integument. " []	4390002	\N	\N	EFO	6	EFO	disposition	pain agnosia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001484	"An agnosia that is a loss of the ability to perceive and process pain. \\n\\nPain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are adipose tissue and integument. " []	5409519	\N	\N	EFO	7	EFO	material property	pain agnosia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001484	"An agnosia that is a loss of the ability to perceive and process pain. \\n\\nPain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are adipose tissue and integument. " []	6147675	\N	\N	EFO	8	EFO	experimental factor	pain agnosia
EFO:1001485	\N	\N	"Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." []	EFO:1001485	"Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." []	71069	\N	\N	EFO	0	EFO	acromegaly	acromegaly
Orphanet:156638	EFO:1001485	\N	"" []	EFO:1001485	"Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." []	213607	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	acromegaly
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001485	"Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." []	567451	\N	\N	EFO	2	EFO	genetic disorder	acromegaly
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001485	"Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." []	567452	\N	\N	EFO	2	EFO	endocrine system disease	acromegaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001485	"Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." []	1148890	\N	\N	EFO	3	EFO	disease	acromegaly
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001485	"Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." []	1148891	\N	\N	EFO	3	EFO	disease	acromegaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001485	"Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." []	2031122	\N	\N	EFO	4	EFO	disposition	acromegaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001485	"Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." []	3181733	\N	\N	EFO	5	EFO	material property	acromegaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001485	"Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." []	4390003	\N	\N	EFO	6	EFO	experimental factor	acromegaly
EFO:1001486	\N	\N	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	71070	\N	\N	EFO	0	EFO	primary biliary cirrhosis	primary biliary cirrhosis
EFO:0004267	EFO:1001486	\N	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	213608	\N	\N	EFO	1	EFO	biliary liver cirrhosis	primary biliary cirrhosis
EFO:0001422	EFO:0004267	\N	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	567453	\N	\N	EFO	2	EFO	cirrhosis of liver	primary biliary cirrhosis
EFO:0006890	EFO:0001422	\N	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	1148892	\N	\N	EFO	3	EFO	fibrosis	primary biliary cirrhosis
EFO:1001513	EFO:0001422	\N	"Tumors or cancers of the LIVER." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	1148893	\N	\N	EFO	3	EFO	liver neoplasm	primary biliary cirrhosis
EFO:0000616	EFO:0006890	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	2031123	\N	\N	EFO	4	EFO	neoplasm	primary biliary cirrhosis
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	2031124	\N	\N	EFO	4	EFO	liver disease	primary biliary cirrhosis
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	2031125	\N	\N	EFO	4	EFO	endocrine neoplasm	primary biliary cirrhosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	4390007	\N	\N	EFO	6	EFO	disease	primary biliary cirrhosis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	3181735	\N	\N	EFO	5	EFO	digestive system disease	primary biliary cirrhosis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	3181736	\N	\N	EFO	5	EFO	endocrine system disease	primary biliary cirrhosis
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	3181737	\N	\N	EFO	5	EFO	neoplasm	primary biliary cirrhosis
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	3181738	\N	\N	EFO	5	EFO	endocrine system disease	primary biliary cirrhosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	5181358	\N	\N	EFO	7	EFO	disposition	primary biliary cirrhosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	4390005	\N	\N	EFO	6	EFO	disease	primary biliary cirrhosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	4390006	\N	\N	EFO	6	EFO	disease	primary biliary cirrhosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	5996772	\N	\N	EFO	8	EFO	material property	primary biliary cirrhosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001486	"An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." []	6550422	\N	\N	EFO	9	EFO	experimental factor	primary biliary cirrhosis
EFO:1001487	\N	\N	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	71071	\N	\N	EFO	0	EFO	secondary biliary cirrhosis	secondary biliary cirrhosis
EFO:0004267	EFO:1001487	\N	"FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	213609	\N	\N	EFO	1	EFO	biliary liver cirrhosis	secondary biliary cirrhosis
EFO:0001422	EFO:0004267	\N	"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	567454	\N	\N	EFO	2	EFO	cirrhosis of liver	secondary biliary cirrhosis
EFO:0006890	EFO:0001422	\N	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	1148894	\N	\N	EFO	3	EFO	fibrosis	secondary biliary cirrhosis
EFO:1001513	EFO:0001422	\N	"Tumors or cancers of the LIVER." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	1148895	\N	\N	EFO	3	EFO	liver neoplasm	secondary biliary cirrhosis
EFO:0000616	EFO:0006890	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	2031126	\N	\N	EFO	4	EFO	neoplasm	secondary biliary cirrhosis
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	2031127	\N	\N	EFO	4	EFO	liver disease	secondary biliary cirrhosis
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	2031128	\N	\N	EFO	4	EFO	endocrine neoplasm	secondary biliary cirrhosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	4390011	\N	\N	EFO	6	EFO	disease	secondary biliary cirrhosis
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	3181740	\N	\N	EFO	5	EFO	digestive system disease	secondary biliary cirrhosis
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	3181741	\N	\N	EFO	5	EFO	endocrine system disease	secondary biliary cirrhosis
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	3181742	\N	\N	EFO	5	EFO	neoplasm	secondary biliary cirrhosis
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	3181743	\N	\N	EFO	5	EFO	endocrine system disease	secondary biliary cirrhosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	5181359	\N	\N	EFO	7	EFO	disposition	secondary biliary cirrhosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	4390009	\N	\N	EFO	6	EFO	disease	secondary biliary cirrhosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	4390010	\N	\N	EFO	6	EFO	disease	secondary biliary cirrhosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	5996773	\N	\N	EFO	8	EFO	material property	secondary biliary cirrhosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001487	"Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue." []	6550423	\N	\N	EFO	9	EFO	experimental factor	secondary biliary cirrhosis
EFO:1001488	\N	\N	"Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." []	EFO:1001488	"Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." []	71072	\N	\N	EFO	0	EFO	influenza A (H1N1)	influenza A (H1N1)
EFO:0005226	EFO:1001488	\N	"An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." []	EFO:1001488	"Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." []	213610	\N	\N	EFO	1	EFO	swine influenza	influenza A (H1N1)
EFO:0007328	EFO:0005226	\N	"A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." []	EFO:1001488	"Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." []	567455	\N	\N	EFO	2	EFO	influenza	influenza A (H1N1)
EFO:0000684	EFO:0007328	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001488	"Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." []	1148896	\N	\N	EFO	3	EFO	respiratory system disease	influenza A (H1N1)
EFO:0000763	EFO:0007328	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001488	"Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." []	1148897	\N	\N	EFO	3	EFO	viral disease	influenza A (H1N1)
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001488	"Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." []	2031129	\N	\N	EFO	4	EFO	disease	influenza A (H1N1)
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001488	"Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." []	2031130	\N	\N	EFO	4	EFO	infectious disease	influenza A (H1N1)
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001488	"Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." []	4390013	\N	\N	EFO	6	EFO	disposition	influenza A (H1N1)
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001488	"Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." []	3181745	\N	\N	EFO	5	EFO	disease	influenza A (H1N1)
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001488	"Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." []	5181360	\N	\N	EFO	7	EFO	material property	influenza A (H1N1)
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001488	"Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe." []	5996774	\N	\N	EFO	8	EFO	experimental factor	influenza A (H1N1)
EFO:1001489	\N	\N	"Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis " []	EFO:1001489	"Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis " []	71073	\N	\N	EFO	0	EFO	skin and soft tissue Staphylococcus aureus infection	skin and soft tissue Staphylococcus aureus infection
EFO:0000701	EFO:1001489	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001489	"Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis " []	213611	\N	\N	EFO	1	EFO	skin disease	skin and soft tissue Staphylococcus aureus infection
EFO:0005681	EFO:1001489	\N	"Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria." []	EFO:1001489	"Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis " []	213612	\N	\N	EFO	1	EFO	Staphylococcus aureus infection	skin and soft tissue Staphylococcus aureus infection
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001489	"Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis " []	567456	\N	\N	EFO	2	EFO	disease	skin and soft tissue Staphylococcus aureus infection
EFO:0000771	EFO:0005681	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001489	"Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis " []	567457	\N	\N	EFO	2	EFO	bacterial disease	skin and soft tissue Staphylococcus aureus infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001489	"Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis " []	3181747	\N	\N	EFO	5	EFO	disposition	skin and soft tissue Staphylococcus aureus infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001489	"Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis " []	1148899	\N	\N	EFO	3	EFO	infectious disease	skin and soft tissue Staphylococcus aureus infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001489	"Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis " []	4066821	\N	\N	EFO	6	EFO	material property	skin and soft tissue Staphylococcus aureus infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001489	"Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis " []	2031132	\N	\N	EFO	4	EFO	disease	skin and soft tissue Staphylococcus aureus infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001489	"Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis " []	5059514	\N	\N	EFO	7	EFO	experimental factor	skin and soft tissue Staphylococcus aureus infection
EFO:1001490	\N	\N	"late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older" []	EFO:1001490	"late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older" []	71074	\N	\N	EFO	0	EFO	late-onset myasthenia gravis	late-onset myasthenia gravis
EFO:0004991	EFO:1001490	\N	"A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)" []	EFO:1001490	"late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older" []	213613	\N	\N	EFO	1	EFO	Myasthenia gravis	late-onset myasthenia gravis
EFO:0005140	EFO:0004991	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1001490	"late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older" []	567458	\N	\N	EFO	2	EFO	autoimmune disease	late-onset myasthenia gravis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001490	"late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older" []	1148900	\N	\N	EFO	3	EFO	immune system disease	late-onset myasthenia gravis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001490	"late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older" []	2031133	\N	\N	EFO	4	EFO	disease	late-onset myasthenia gravis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001490	"late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older" []	3181748	\N	\N	EFO	5	EFO	disposition	late-onset myasthenia gravis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001490	"late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older" []	4390014	\N	\N	EFO	6	EFO	material property	late-onset myasthenia gravis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001490	"late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older" []	5409523	\N	\N	EFO	7	EFO	experimental factor	late-onset myasthenia gravis
EFO:1001491	\N	\N	"the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus." []	EFO:1001491	"the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus." []	71075	\N	\N	EFO	0	EFO	abortion	abortion
EFO:0000512	EFO:1001491	\N	"any diease of the reproductive system" []	EFO:1001491	"the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus." []	213614	\N	\N	EFO	1	EFO	reproductive system disease	abortion
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001491	"the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus." []	567459	\N	\N	EFO	2	EFO	disease	abortion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001491	"the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus." []	1148901	\N	\N	EFO	3	EFO	disposition	abortion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001491	"the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus." []	2031134	\N	\N	EFO	4	EFO	material property	abortion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001491	"the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus." []	3181749	\N	\N	EFO	5	EFO	experimental factor	abortion
EFO:1001492	\N	\N	"Dry AMD is most common type of macular degeneration and affects 90% of the people who have the condition. In the dry form, there is a breakdown or thinning of the layer of retinal pigment epithelial cells (RPE) in the macula. No medical or surgical treatment is available for this condition." []	EFO:1001492	"Dry AMD is most common type of macular degeneration and affects 90% of the people who have the condition. In the dry form, there is a breakdown or thinning of the layer of retinal pigment epithelial cells (RPE) in the macula. No medical or surgical treatment is available for this condition." []	71076	\N	\N	EFO	0	EFO	atrophic macular degeneration	atrophic macular degeneration
EFO:0001365	EFO:1001492	\N	"Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms." []	EFO:1001492	"Dry AMD is most common type of macular degeneration and affects 90% of the people who have the condition. In the dry form, there is a breakdown or thinning of the layer of retinal pigment epithelial cells (RPE) in the macula. No medical or surgical treatment is available for this condition." []	213615	\N	\N	EFO	1	EFO	age-related macular degeneration	atrophic macular degeneration
EFO:0001058	EFO:0001365	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1001492	"Dry AMD is most common type of macular degeneration and affects 90% of the people who have the condition. In the dry form, there is a breakdown or thinning of the layer of retinal pigment epithelial cells (RPE) in the macula. No medical or surgical treatment is available for this condition." []	567460	\N	\N	EFO	2	EFO	sensory system disease	atrophic macular degeneration
EFO:0003966	EFO:0001365	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001492	"Dry AMD is most common type of macular degeneration and affects 90% of the people who have the condition. In the dry form, there is a breakdown or thinning of the layer of retinal pigment epithelial cells (RPE) in the macula. No medical or surgical treatment is available for this condition." []	567461	\N	\N	EFO	2	EFO	eye disease	atrophic macular degeneration
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001492	"Dry AMD is most common type of macular degeneration and affects 90% of the people who have the condition. In the dry form, there is a breakdown or thinning of the layer of retinal pigment epithelial cells (RPE) in the macula. No medical or surgical treatment is available for this condition." []	1148902	\N	\N	EFO	3	EFO	nervous system disease	atrophic macular degeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001492	"Dry AMD is most common type of macular degeneration and affects 90% of the people who have the condition. In the dry form, there is a breakdown or thinning of the layer of retinal pigment epithelial cells (RPE) in the macula. No medical or surgical treatment is available for this condition." []	1148903	\N	\N	EFO	3	EFO	disease	atrophic macular degeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001492	"Dry AMD is most common type of macular degeneration and affects 90% of the people who have the condition. In the dry form, there is a breakdown or thinning of the layer of retinal pigment epithelial cells (RPE) in the macula. No medical or surgical treatment is available for this condition." []	2031135	\N	\N	EFO	4	EFO	disease	atrophic macular degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001492	"Dry AMD is most common type of macular degeneration and affects 90% of the people who have the condition. In the dry form, there is a breakdown or thinning of the layer of retinal pigment epithelial cells (RPE) in the macula. No medical or surgical treatment is available for this condition." []	3181750	\N	\N	EFO	5	EFO	disposition	atrophic macular degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001492	"Dry AMD is most common type of macular degeneration and affects 90% of the people who have the condition. In the dry form, there is a breakdown or thinning of the layer of retinal pigment epithelial cells (RPE) in the macula. No medical or surgical treatment is available for this condition." []	4133129	\N	\N	EFO	6	EFO	material property	atrophic macular degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001492	"Dry AMD is most common type of macular degeneration and affects 90% of the people who have the condition. In the dry form, there is a breakdown or thinning of the layer of retinal pigment epithelial cells (RPE) in the macula. No medical or surgical treatment is available for this condition." []	5181361	\N	\N	EFO	7	EFO	experimental factor	atrophic macular degeneration
EFO:1001493	\N	\N	"an embolism that is a result of an obstruction in a cardiac vessel due to a blood clot or other foreign matters" []	EFO:1001493	"an embolism that is a result of an obstruction in a cardiac vessel due to a blood clot or other foreign matters" []	71077	\N	\N	EFO	0	EFO	cardiac embolism	cardiac embolism
EFO:0000319	EFO:1001493	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001493	"an embolism that is a result of an obstruction in a cardiac vessel due to a blood clot or other foreign matters" []	213616	\N	\N	EFO	1	EFO	cardiovascular disease	cardiac embolism
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001493	"an embolism that is a result of an obstruction in a cardiac vessel due to a blood clot or other foreign matters" []	567462	\N	\N	EFO	2	EFO	disease	cardiac embolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001493	"an embolism that is a result of an obstruction in a cardiac vessel due to a blood clot or other foreign matters" []	1148904	\N	\N	EFO	3	EFO	disposition	cardiac embolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001493	"an embolism that is a result of an obstruction in a cardiac vessel due to a blood clot or other foreign matters" []	2031137	\N	\N	EFO	4	EFO	material property	cardiac embolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001493	"an embolism that is a result of an obstruction in a cardiac vessel due to a blood clot or other foreign matters" []	3181752	\N	\N	EFO	5	EFO	experimental factor	cardiac embolism
EFO:1001494	\N	\N	"Plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." []	EFO:1001494	"Plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." []	71078	\N	\N	EFO	0	EFO	psoriasis vulgaris	psoriasis vulgaris
EFO:0000676	EFO:1001494	\N	"A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis." []	EFO:1001494	"Plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." []	213617	\N	\N	EFO	1	EFO	psoriasis	psoriasis vulgaris
EFO:0000540	EFO:0000676	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001494	"Plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." []	567463	\N	\N	EFO	2	EFO	immune system disease	psoriasis vulgaris
EFO:1000636	EFO:0000676	\N	"Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications\\n\\nThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. \\n" []	EFO:1001494	"Plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." []	567464	\N	\N	EFO	2	EFO	inflammatory skin disease	psoriasis vulgaris
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001494	"Plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." []	1148905	\N	\N	EFO	3	EFO	disease	psoriasis vulgaris
EFO:0000701	EFO:1000636	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001494	"Plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." []	1148906	\N	\N	EFO	3	EFO	skin disease	psoriasis vulgaris
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001494	"Plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." []	3181754	\N	\N	EFO	5	EFO	disposition	psoriasis vulgaris
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001494	"Plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." []	2031139	\N	\N	EFO	4	EFO	disease	psoriasis vulgaris
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001494	"Plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." []	4133130	\N	\N	EFO	6	EFO	material property	psoriasis vulgaris
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001494	"Plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." []	5181362	\N	\N	EFO	7	EFO	experimental factor	psoriasis vulgaris
EFO:1001495	\N	\N	"blockage of blood flow through a small artery, particularly in the brain" []	EFO:1001495	"blockage of blood flow through a small artery, particularly in the brain" []	71079	\N	\N	EFO	0	EFO	small artery occlusion	small artery occlusion
EFO:0004264	EFO:1001495	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001495	"blockage of blood flow through a small artery, particularly in the brain" []	213618	\N	\N	EFO	1	EFO	vascular disease	small artery occlusion
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001495	"blockage of blood flow through a small artery, particularly in the brain" []	567465	\N	\N	EFO	2	EFO	cardiovascular disease	small artery occlusion
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001495	"blockage of blood flow through a small artery, particularly in the brain" []	1148907	\N	\N	EFO	3	EFO	disease	small artery occlusion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001495	"blockage of blood flow through a small artery, particularly in the brain" []	2031140	\N	\N	EFO	4	EFO	disposition	small artery occlusion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001495	"blockage of blood flow through a small artery, particularly in the brain" []	3181755	\N	\N	EFO	5	EFO	material property	small artery occlusion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001495	"blockage of blood flow through a small artery, particularly in the brain" []	4390017	\N	\N	EFO	6	EFO	experimental factor	small artery occlusion
EFO:1001496	\N	\N	"Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." []	EFO:1001496	"Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." []	71080	\N	\N	EFO	0	EFO	Autosomal dominant polycystic kidney disease	Autosomal dominant polycystic kidney disease
Orphanet:93587	EFO:1001496	\N	"" []	EFO:1001496	"Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." []	213619	\N	\N	EFO	1	EFO	Familial cystic renal disease	Autosomal dominant polycystic kidney disease
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	EFO:1001496	"Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." []	567466	\N	\N	EFO	2	EFO	kidney disease	Autosomal dominant polycystic kidney disease
Orphanet:98056	Orphanet:93587	\N	"" []	EFO:1001496	"Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." []	567467	\N	\N	EFO	2	EFO	Rare genetic renal disease	Autosomal dominant polycystic kidney disease
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001496	"Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." []	1148908	\N	\N	EFO	3	EFO	disease	Autosomal dominant polycystic kidney disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001496	"Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." []	1148909	\N	\N	EFO	3	EFO	genetic disorder	Autosomal dominant polycystic kidney disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001496	"Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." []	3181757	\N	\N	EFO	5	EFO	disposition	Autosomal dominant polycystic kidney disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001496	"Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." []	2031142	\N	\N	EFO	4	EFO	disease	Autosomal dominant polycystic kidney disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001496	"Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." []	4133131	\N	\N	EFO	6	EFO	material property	Autosomal dominant polycystic kidney disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001496	"Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." []	5181363	\N	\N	EFO	7	EFO	experimental factor	Autosomal dominant polycystic kidney disease
EFO:1001497	\N	\N	"heart rhythm disturbance where the heartselectrical impulses are conducted very slowly." []	EFO:1001497	"heart rhythm disturbance where the heartselectrical impulses are conducted very slowly." []	71081	\N	\N	EFO	0	EFO	cardiac conduction defect	cardiac conduction defect
EFO:0004269	EFO:1001497	\N	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	EFO:1001497	"heart rhythm disturbance where the heartselectrical impulses are conducted very slowly." []	213620	\N	\N	EFO	1	EFO	cardiac arrhythmia	cardiac conduction defect
EFO:0003777	EFO:0004269	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001497	"heart rhythm disturbance where the heartselectrical impulses are conducted very slowly." []	567468	\N	\N	EFO	2	EFO	heart disease	cardiac conduction defect
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001497	"heart rhythm disturbance where the heartselectrical impulses are conducted very slowly." []	1148910	\N	\N	EFO	3	EFO	cardiovascular disease	cardiac conduction defect
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001497	"heart rhythm disturbance where the heartselectrical impulses are conducted very slowly." []	2031143	\N	\N	EFO	4	EFO	disease	cardiac conduction defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001497	"heart rhythm disturbance where the heartselectrical impulses are conducted very slowly." []	3181758	\N	\N	EFO	5	EFO	disposition	cardiac conduction defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001497	"heart rhythm disturbance where the heartselectrical impulses are conducted very slowly." []	4390019	\N	\N	EFO	6	EFO	material property	cardiac conduction defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001497	"heart rhythm disturbance where the heartselectrical impulses are conducted very slowly." []	5409524	\N	\N	EFO	7	EFO	experimental factor	cardiac conduction defect
EFO:1001498	\N	\N	"Atypical mycobacterial infections are infections caused by several types ofmycobacteria similar to the germ that causes tuberculosis. These atypical mycobacterial infections are a frequent complication in patients with human immunodeficiency virus (HIV) infection or AIDS." []	EFO:1001498	"Atypical mycobacterial infections are infections caused by several types ofmycobacteria similar to the germ that causes tuberculosis. These atypical mycobacterial infections are a frequent complication in patients with human immunodeficiency virus (HIV) infection or AIDS." []	71082	\N	\N	EFO	0	EFO	disseminated atypical mycobacterial infection	disseminated atypical mycobacterial infection
EFO:0000771	EFO:1001498	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001498	"Atypical mycobacterial infections are infections caused by several types ofmycobacteria similar to the germ that causes tuberculosis. These atypical mycobacterial infections are a frequent complication in patients with human immunodeficiency virus (HIV) infection or AIDS." []	213621	\N	\N	EFO	1	EFO	bacterial disease	disseminated atypical mycobacterial infection
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001498	"Atypical mycobacterial infections are infections caused by several types ofmycobacteria similar to the germ that causes tuberculosis. These atypical mycobacterial infections are a frequent complication in patients with human immunodeficiency virus (HIV) infection or AIDS." []	567469	\N	\N	EFO	2	EFO	infectious disease	disseminated atypical mycobacterial infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001498	"Atypical mycobacterial infections are infections caused by several types ofmycobacteria similar to the germ that causes tuberculosis. These atypical mycobacterial infections are a frequent complication in patients with human immunodeficiency virus (HIV) infection or AIDS." []	1148911	\N	\N	EFO	3	EFO	disease	disseminated atypical mycobacterial infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001498	"Atypical mycobacterial infections are infections caused by several types ofmycobacteria similar to the germ that causes tuberculosis. These atypical mycobacterial infections are a frequent complication in patients with human immunodeficiency virus (HIV) infection or AIDS." []	2031144	\N	\N	EFO	4	EFO	disposition	disseminated atypical mycobacterial infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001498	"Atypical mycobacterial infections are infections caused by several types ofmycobacteria similar to the germ that causes tuberculosis. These atypical mycobacterial infections are a frequent complication in patients with human immunodeficiency virus (HIV) infection or AIDS." []	3181759	\N	\N	EFO	5	EFO	material property	disseminated atypical mycobacterial infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001498	"Atypical mycobacterial infections are infections caused by several types ofmycobacteria similar to the germ that causes tuberculosis. These atypical mycobacterial infections are a frequent complication in patients with human immunodeficiency virus (HIV) infection or AIDS." []	4390020	\N	\N	EFO	6	EFO	experimental factor	disseminated atypical mycobacterial infection
EFO:1001499	\N	\N	"rare hereditary disease characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected" []	EFO:1001499	"rare hereditary disease characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected" []	71083	\N	\N	EFO	0	EFO	histiocytic medullary reticulosis	histiocytic medullary reticulosis
EFO:0005561	EFO:1001499	\N	"A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH)" []	EFO:1001499	"rare hereditary disease characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected" []	213622	\N	\N	EFO	1	EFO	histiocytoma	histiocytic medullary reticulosis
EFO:0000691	EFO:0005561	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1001499	"rare hereditary disease characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected" []	567470	\N	\N	EFO	2	EFO	sarcoma	histiocytic medullary reticulosis
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001499	"rare hereditary disease characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected" []	1148912	\N	\N	EFO	3	EFO	cancer	histiocytic medullary reticulosis
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001499	"rare hereditary disease characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected" []	2031145	\N	\N	EFO	4	EFO	neoplasm	histiocytic medullary reticulosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001499	"rare hereditary disease characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected" []	3181760	\N	\N	EFO	5	EFO	disease	histiocytic medullary reticulosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001499	"rare hereditary disease characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected" []	4390021	\N	\N	EFO	6	EFO	disposition	histiocytic medullary reticulosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001499	"rare hereditary disease characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected" []	5409525	\N	\N	EFO	7	EFO	material property	histiocytic medullary reticulosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001499	"rare hereditary disease characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected" []	6147678	\N	\N	EFO	8	EFO	experimental factor	histiocytic medullary reticulosis
EFO:1001500	\N	\N	"Mental retardation with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013)." []	EFO:1001500	"Mental retardation with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013)." []	71084	\N	\N	EFO	0	EFO	mental retardation with language impairment	mental retardation with language impairment
EFO:0003847	EFO:1001500	\N	"Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)" []	EFO:1001500	"Mental retardation with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013)." []	213623	\N	\N	EFO	1	EFO	mental retardation	mental retardation with language impairment
EFO:1001501	\N	\N	"A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." []	EFO:1001501	"A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." []	71085	\N	\N	EFO	0	EFO	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
Orphanet:68335	EFO:1001501	\N	"" []	EFO:1001501	"A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." []	213624	\N	\N	EFO	1	EFO	Chromosomal anomaly	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001501	"A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." []	567471	\N	\N	EFO	2	EFO	genetic disorder	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001501	"A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." []	1148913	\N	\N	EFO	3	EFO	disease	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001501	"A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." []	2031146	\N	\N	EFO	4	EFO	disposition	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001501	"A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." []	3181761	\N	\N	EFO	5	EFO	material property	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001501	"A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." []	4390022	\N	\N	EFO	6	EFO	experimental factor	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
EFO:1001502	\N	\N	"Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome" []	EFO:1001502	"Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome" []	71086	\N	\N	EFO	0	EFO	rasopathy	rasopathy
EFO:0000508	EFO:1001502	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001502	"Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome" []	213625	\N	\N	EFO	1	EFO	genetic disorder	rasopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001502	"Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome" []	567472	\N	\N	EFO	2	EFO	disease	rasopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001502	"Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome" []	1148914	\N	\N	EFO	3	EFO	disposition	rasopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001502	"Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome" []	2031147	\N	\N	EFO	4	EFO	material property	rasopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001502	"Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome" []	3181762	\N	\N	EFO	5	EFO	experimental factor	rasopathy
EFO:1001503	\N	\N	"acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)" []	EFO:1001503	"acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)" []	71087	\N	\N	EFO	0	EFO	type II diabetes mellitus with acanthosis nigricans	type II diabetes mellitus with acanthosis nigricans
EFO:0000701	EFO:1001503	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001503	"acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)" []	213626	\N	\N	EFO	1	EFO	skin disease	type II diabetes mellitus with acanthosis nigricans
EFO:0001360	EFO:1001503	\N	"A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." []	EFO:1001503	"acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)" []	213627	\N	\N	EFO	1	EFO	type II diabetes mellitus	type II diabetes mellitus with acanthosis nigricans
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001503	"acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)" []	567473	\N	\N	EFO	2	EFO	disease	type II diabetes mellitus with acanthosis nigricans
EFO:0000400	EFO:0001360	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	EFO:1001503	"acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)" []	567474	\N	\N	EFO	2	EFO	diabetes mellitus	type II diabetes mellitus with acanthosis nigricans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001503	"acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)" []	3181764	\N	\N	EFO	5	EFO	disposition	type II diabetes mellitus with acanthosis nigricans
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001503	"acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)" []	1148916	\N	\N	EFO	3	EFO	metabolic disease	type II diabetes mellitus with acanthosis nigricans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001503	"acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)" []	4066822	\N	\N	EFO	6	EFO	material property	type II diabetes mellitus with acanthosis nigricans
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001503	"acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)" []	2031149	\N	\N	EFO	4	EFO	disease	type II diabetes mellitus with acanthosis nigricans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001503	"acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)" []	5059515	\N	\N	EFO	7	EFO	experimental factor	type II diabetes mellitus with acanthosis nigricans
EFO:1001504	\N	\N	"stroke caused by the blockage of blood flow in one of the small blood vessels in the brain" []	EFO:1001504	"stroke caused by the blockage of blood flow in one of the small blood vessels in the brain" []	71088	\N	\N	EFO	0	EFO	small vessel stroke	small vessel stroke
EFO:0000712	EFO:1001504	\N	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	EFO:1001504	"stroke caused by the blockage of blood flow in one of the small blood vessels in the brain" []	213628	\N	\N	EFO	1	EFO	stroke	small vessel stroke
EFO:0003763	EFO:0000712	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1001504	"stroke caused by the blockage of blood flow in one of the small blood vessels in the brain" []	567475	\N	\N	EFO	2	EFO	cerebrovascular disorder	small vessel stroke
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001504	"stroke caused by the blockage of blood flow in one of the small blood vessels in the brain" []	1148917	\N	\N	EFO	3	EFO	vascular disease	small vessel stroke
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001504	"stroke caused by the blockage of blood flow in one of the small blood vessels in the brain" []	2031150	\N	\N	EFO	4	EFO	cardiovascular disease	small vessel stroke
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001504	"stroke caused by the blockage of blood flow in one of the small blood vessels in the brain" []	3181765	\N	\N	EFO	5	EFO	disease	small vessel stroke
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001504	"stroke caused by the blockage of blood flow in one of the small blood vessels in the brain" []	4390023	\N	\N	EFO	6	EFO	disposition	small vessel stroke
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001504	"stroke caused by the blockage of blood flow in one of the small blood vessels in the brain" []	5409526	\N	\N	EFO	7	EFO	material property	small vessel stroke
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001504	"stroke caused by the blockage of blood flow in one of the small blood vessels in the brain" []	6147679	\N	\N	EFO	8	EFO	experimental factor	small vessel stroke
EFO:1001505	\N	\N	"Cystic disease of the liver is rare and can take several forms. Cysts in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Carolis syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease." []	EFO:1001505	"Cystic disease of the liver is rare and can take several forms. Cysts in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Carolis syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease." []	71089	\N	\N	EFO	0	EFO	cystic liver disease	cystic liver disease
EFO:0001421	EFO:1001505	\N	"Pathological processes of the LIVER." []	EFO:1001505	"Cystic disease of the liver is rare and can take several forms. Cysts in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Carolis syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease." []	213629	\N	\N	EFO	1	EFO	liver disease	cystic liver disease
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001505	"Cystic disease of the liver is rare and can take several forms. Cysts in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Carolis syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease." []	567476	\N	\N	EFO	2	EFO	digestive system disease	cystic liver disease
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001505	"Cystic disease of the liver is rare and can take several forms. Cysts in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Carolis syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease." []	567477	\N	\N	EFO	2	EFO	endocrine system disease	cystic liver disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001505	"Cystic disease of the liver is rare and can take several forms. Cysts in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Carolis syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease." []	1148918	\N	\N	EFO	3	EFO	disease	cystic liver disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001505	"Cystic disease of the liver is rare and can take several forms. Cysts in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Carolis syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease." []	1148919	\N	\N	EFO	3	EFO	disease	cystic liver disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001505	"Cystic disease of the liver is rare and can take several forms. Cysts in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Carolis syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease." []	2031151	\N	\N	EFO	4	EFO	disposition	cystic liver disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001505	"Cystic disease of the liver is rare and can take several forms. Cysts in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Carolis syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease." []	3181766	\N	\N	EFO	5	EFO	material property	cystic liver disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001505	"Cystic disease of the liver is rare and can take several forms. Cysts in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Carolis syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease." []	4390024	\N	\N	EFO	6	EFO	experimental factor	cystic liver disease
EFO:1001506	\N	\N	"A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis." []	EFO:1001506	"A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis." []	71090	\N	\N	EFO	0	EFO	primary angle closure glaucoma	primary angle closure glaucoma
EFO:0000516	EFO:1001506	\N	"Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." []	EFO:1001506	"A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis." []	213630	\N	\N	EFO	1	EFO	glaucoma	primary angle closure glaucoma
EFO:0001058	EFO:0000516	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1001506	"A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis." []	567478	\N	\N	EFO	2	EFO	sensory system disease	primary angle closure glaucoma
EFO:0003966	EFO:0000516	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001506	"A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis." []	567479	\N	\N	EFO	2	EFO	eye disease	primary angle closure glaucoma
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001506	"A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis." []	1148920	\N	\N	EFO	3	EFO	nervous system disease	primary angle closure glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001506	"A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis." []	1148921	\N	\N	EFO	3	EFO	disease	primary angle closure glaucoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001506	"A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis." []	2031152	\N	\N	EFO	4	EFO	disease	primary angle closure glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001506	"A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis." []	3181767	\N	\N	EFO	5	EFO	disposition	primary angle closure glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001506	"A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis." []	4133132	\N	\N	EFO	6	EFO	material property	primary angle closure glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001506	"A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis." []	5181364	\N	\N	EFO	7	EFO	experimental factor	primary angle closure glaucoma
EFO:1001507	\N	\N	"acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments" []	EFO:1001507	"acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments" []	71091	\N	\N	EFO	0	EFO	asparaginase-induced acute pancreatitis	asparaginase-induced acute pancreatitis
EFO:1000652	EFO:1001507	\N	"a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process." []	EFO:1001507	"acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments" []	213631	\N	\N	EFO	1	EFO	acute pancreatitis	asparaginase-induced acute pancreatitis
EFO:0000278	EFO:1000652	\N	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	EFO:1001507	"acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments" []	567480	\N	\N	EFO	2	EFO	pancreatitis	asparaginase-induced acute pancreatitis
EFO:0000405	EFO:0000278	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001507	"acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments" []	1148922	\N	\N	EFO	3	EFO	digestive system disease	asparaginase-induced acute pancreatitis
EFO:0001379	EFO:0000278	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001507	"acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments" []	1148923	\N	\N	EFO	3	EFO	endocrine system disease	asparaginase-induced acute pancreatitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001507	"acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments" []	2031154	\N	\N	EFO	4	EFO	disease	asparaginase-induced acute pancreatitis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001507	"acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments" []	2031155	\N	\N	EFO	4	EFO	disease	asparaginase-induced acute pancreatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001507	"acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments" []	3181769	\N	\N	EFO	5	EFO	disposition	asparaginase-induced acute pancreatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001507	"acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments" []	4390026	\N	\N	EFO	6	EFO	material property	asparaginase-induced acute pancreatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001507	"acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments" []	5409527	\N	\N	EFO	7	EFO	experimental factor	asparaginase-induced acute pancreatitis
EFO:1001510	\N	\N	"A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." []	EFO:1001510	"A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." []	71092	\N	\N	EFO	0	EFO	specific language impairment	specific language impairment
EFO:0005425	EFO:1001510	\N	"A communication disorder that involves the processing of linguistic information." []	EFO:1001510	"A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." []	213632	\N	\N	EFO	1	EFO	language impairment	specific language impairment
EFO:0000677	EFO:0005425	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001510	"A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." []	567481	\N	\N	EFO	2	EFO	mental or behavioural disorder	specific language impairment
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001510	"A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." []	1148924	\N	\N	EFO	3	EFO	brain disease	specific language impairment
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001510	"A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." []	2031156	\N	\N	EFO	4	EFO	nervous system disease	specific language impairment
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001510	"A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." []	3181770	\N	\N	EFO	5	EFO	disease	specific language impairment
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001510	"A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." []	4390027	\N	\N	EFO	6	EFO	disposition	specific language impairment
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001510	"A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." []	5409528	\N	\N	EFO	7	EFO	material property	specific language impairment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001510	"A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." []	6147680	\N	\N	EFO	8	EFO	experimental factor	specific language impairment
EFO:1001511	\N	\N	"Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood." []	EFO:1001511	"Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood." []	71093	\N	\N	EFO	0	EFO	monogenic diabetes	monogenic diabetes
EFO:0000400	EFO:1001511	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	EFO:1001511	"Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood." []	213633	\N	\N	EFO	1	EFO	diabetes mellitus	monogenic diabetes
EFO:0005140	EFO:1001511	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1001511	"Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood." []	213634	\N	\N	EFO	1	EFO	autoimmune disease	monogenic diabetes
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001511	"Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood." []	567482	\N	\N	EFO	2	EFO	metabolic disease	monogenic diabetes
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001511	"Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood." []	567483	\N	\N	EFO	2	EFO	immune system disease	monogenic diabetes
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001511	"Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood." []	1148925	\N	\N	EFO	3	EFO	disease	monogenic diabetes
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001511	"Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood." []	1148926	\N	\N	EFO	3	EFO	disease	monogenic diabetes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001511	"Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood." []	2031157	\N	\N	EFO	4	EFO	disposition	monogenic diabetes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001511	"Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood." []	3181771	\N	\N	EFO	5	EFO	material property	monogenic diabetes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001511	"Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood." []	4390028	\N	\N	EFO	6	EFO	experimental factor	monogenic diabetes
EFO:1001512	\N	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	71094	\N	\N	EFO	0	EFO	endometrial carcinoma	endometrial carcinoma
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	213635	\N	\N	EFO	1	EFO	carcinoma	endometrial carcinoma
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	213636	\N	\N	EFO	1	EFO	endometrial neoplasm	endometrial carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	567484	\N	\N	EFO	2	EFO	cancer	endometrial carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	567485	\N	\N	EFO	2	EFO	epithelial neoplasm	endometrial carcinoma
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	567486	\N	\N	EFO	2	EFO	uterine neoplasm	endometrial carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	1148927	\N	\N	EFO	3	EFO	neoplasm	endometrial carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	1148928	\N	\N	EFO	3	EFO	neoplasm	endometrial carcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	1148929	\N	\N	EFO	3	EFO	reproductive system disease	endometrial carcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	1148930	\N	\N	EFO	3	EFO	urogenital neoplasm	endometrial carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	3181773	\N	\N	EFO	5	EFO	disease	endometrial carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	2031159	\N	\N	EFO	4	EFO	disease	endometrial carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	2031160	\N	\N	EFO	4	EFO	neoplasm	endometrial carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	4133133	\N	\N	EFO	6	EFO	disposition	endometrial carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	5181365	\N	\N	EFO	7	EFO	material property	endometrial carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001512	"A endometrial cancer that is located_in the tissue lining the uterus." []	5996775	\N	\N	EFO	8	EFO	experimental factor	endometrial carcinoma
EFO:1001513	\N	\N	"Tumors or cancers of the LIVER." []	EFO:1001513	"Tumors or cancers of the LIVER." []	71095	\N	\N	EFO	0	EFO	liver neoplasm	liver neoplasm
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1001513	"Tumors or cancers of the LIVER." []	213637	\N	\N	EFO	1	EFO	liver disease	liver neoplasm
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001513	"Tumors or cancers of the LIVER." []	213638	\N	\N	EFO	1	EFO	endocrine neoplasm	liver neoplasm
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001513	"Tumors or cancers of the LIVER." []	567487	\N	\N	EFO	2	EFO	digestive system disease	liver neoplasm
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001513	"Tumors or cancers of the LIVER." []	567488	\N	\N	EFO	2	EFO	endocrine system disease	liver neoplasm
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001513	"Tumors or cancers of the LIVER." []	567489	\N	\N	EFO	2	EFO	neoplasm	liver neoplasm
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001513	"Tumors or cancers of the LIVER." []	567490	\N	\N	EFO	2	EFO	endocrine system disease	liver neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001513	"Tumors or cancers of the LIVER." []	1148931	\N	\N	EFO	3	EFO	disease	liver neoplasm
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001513	"Tumors or cancers of the LIVER." []	1148932	\N	\N	EFO	3	EFO	disease	liver neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001513	"Tumors or cancers of the LIVER." []	1148933	\N	\N	EFO	3	EFO	disease	liver neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001513	"Tumors or cancers of the LIVER." []	2031161	\N	\N	EFO	4	EFO	disposition	liver neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001513	"Tumors or cancers of the LIVER." []	3181774	\N	\N	EFO	5	EFO	material property	liver neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001513	"Tumors or cancers of the LIVER." []	4390030	\N	\N	EFO	6	EFO	experimental factor	liver neoplasm
EFO:1001514	\N	\N	"endometrioid carcinoma located in the lining of the uterus" []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	71096	\N	\N	EFO	0	EFO	endometrial endometrioid carcinoma	endometrial endometrioid carcinoma
EFO:0000466	EFO:1001514	\N	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	213639	\N	\N	EFO	1	EFO	endometrioid carcinoma	endometrial endometrioid carcinoma
EFO:1001512	EFO:1001514	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	213640	\N	\N	EFO	1	EFO	endometrial carcinoma	endometrial endometrioid carcinoma
EFO:0000313	EFO:0000466	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	567491	\N	\N	EFO	2	EFO	carcinoma	endometrial endometrioid carcinoma
EFO:0000512	EFO:0000466	\N	"any diease of the reproductive system" []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	567492	\N	\N	EFO	2	EFO	reproductive system disease	endometrial endometrioid carcinoma
EFO:0003863	EFO:0000466	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	567493	\N	\N	EFO	2	EFO	urogenital neoplasm	endometrial endometrioid carcinoma
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	567494	\N	\N	EFO	2	EFO	carcinoma	endometrial endometrioid carcinoma
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	567495	\N	\N	EFO	2	EFO	endometrial neoplasm	endometrial endometrioid carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	1148934	\N	\N	EFO	3	EFO	cancer	endometrial endometrioid carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	1148935	\N	\N	EFO	3	EFO	epithelial neoplasm	endometrial endometrioid carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	3181778	\N	\N	EFO	5	EFO	disease	endometrial endometrioid carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	3181779	\N	\N	EFO	5	EFO	neoplasm	endometrial endometrioid carcinoma
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	1148938	\N	\N	EFO	3	EFO	uterine neoplasm	endometrial endometrioid carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	2031162	\N	\N	EFO	4	EFO	neoplasm	endometrial endometrioid carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	2031163	\N	\N	EFO	4	EFO	neoplasm	endometrial endometrioid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	5059517	\N	\N	EFO	7	EFO	disposition	endometrial endometrioid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	4066824	\N	\N	EFO	6	EFO	disease	endometrial endometrioid carcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	2031166	\N	\N	EFO	4	EFO	reproductive system disease	endometrial endometrioid carcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	2031167	\N	\N	EFO	4	EFO	urogenital neoplasm	endometrial endometrioid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	5817413	\N	\N	EFO	8	EFO	material property	endometrial endometrioid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001514	"endometrioid carcinoma located in the lining of the uterus" []	6409772	\N	\N	EFO	9	EFO	experimental factor	endometrial endometrioid carcinoma
EFO:1001515	\N	\N	"endometrioid carcinoma located in the ovary" []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	71097	\N	\N	EFO	0	EFO	ovarian endometrioid carcinoma	ovarian endometrioid carcinoma
EFO:0000466	EFO:1001515	\N	"An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	213641	\N	\N	EFO	1	EFO	endometrioid carcinoma	ovarian endometrioid carcinoma
EFO:0003893	EFO:1001515	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	213642	\N	\N	EFO	1	EFO	ovarian neoplasm	ovarian endometrioid carcinoma
EFO:0000313	EFO:0000466	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	567496	\N	\N	EFO	2	EFO	carcinoma	ovarian endometrioid carcinoma
EFO:0000512	EFO:0000466	\N	"any diease of the reproductive system" []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	567497	\N	\N	EFO	2	EFO	reproductive system disease	ovarian endometrioid carcinoma
EFO:0003863	EFO:0000466	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	567498	\N	\N	EFO	2	EFO	urogenital neoplasm	ovarian endometrioid carcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	567499	\N	\N	EFO	2	EFO	urogenital neoplasm	ovarian endometrioid carcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	567500	\N	\N	EFO	2	EFO	ovarian disease	ovarian endometrioid carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	1148939	\N	\N	EFO	3	EFO	cancer	ovarian endometrioid carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	1148940	\N	\N	EFO	3	EFO	epithelial neoplasm	ovarian endometrioid carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	2031172	\N	\N	EFO	4	EFO	disease	ovarian endometrioid carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	1148942	\N	\N	EFO	3	EFO	neoplasm	ovarian endometrioid carcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	1148943	\N	\N	EFO	3	EFO	reproductive system disease	ovarian endometrioid carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	2031168	\N	\N	EFO	4	EFO	neoplasm	ovarian endometrioid carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	2031169	\N	\N	EFO	4	EFO	neoplasm	ovarian endometrioid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	4133136	\N	\N	EFO	6	EFO	disposition	ovarian endometrioid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	3181780	\N	\N	EFO	5	EFO	disease	ovarian endometrioid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	5059518	\N	\N	EFO	7	EFO	material property	ovarian endometrioid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001515	"endometrioid carcinoma located in the ovary" []	5876660	\N	\N	EFO	8	EFO	experimental factor	ovarian endometrioid carcinoma
EFO:1001516	\N	\N	"serous carcinoma located in the ovary" []	EFO:1001516	"serous carcinoma located in the ovary" []	71098	\N	\N	EFO	0	EFO	ovarian serous carcinoma	ovarian serous carcinoma
EFO:0001075	EFO:1001516	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1001516	"serous carcinoma located in the ovary" []	213643	\N	\N	EFO	1	EFO	ovarian carcinoma	ovarian serous carcinoma
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001516	"serous carcinoma located in the ovary" []	567501	\N	\N	EFO	2	EFO	carcinoma	ovarian serous carcinoma
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1001516	"serous carcinoma located in the ovary" []	567502	\N	\N	EFO	2	EFO	ovarian neoplasm	ovarian serous carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001516	"serous carcinoma located in the ovary" []	1148944	\N	\N	EFO	3	EFO	cancer	ovarian serous carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001516	"serous carcinoma located in the ovary" []	1148945	\N	\N	EFO	3	EFO	epithelial neoplasm	ovarian serous carcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001516	"serous carcinoma located in the ovary" []	1148946	\N	\N	EFO	3	EFO	urogenital neoplasm	ovarian serous carcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1001516	"serous carcinoma located in the ovary" []	1148947	\N	\N	EFO	3	EFO	ovarian disease	ovarian serous carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001516	"serous carcinoma located in the ovary" []	2031173	\N	\N	EFO	4	EFO	neoplasm	ovarian serous carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001516	"serous carcinoma located in the ovary" []	2031174	\N	\N	EFO	4	EFO	neoplasm	ovarian serous carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001516	"serous carcinoma located in the ovary" []	2031175	\N	\N	EFO	4	EFO	neoplasm	ovarian serous carcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1001516	"serous carcinoma located in the ovary" []	2031176	\N	\N	EFO	4	EFO	reproductive system disease	ovarian serous carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001516	"serous carcinoma located in the ovary" []	3181782	\N	\N	EFO	5	EFO	disease	ovarian serous carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001516	"serous carcinoma located in the ovary" []	3181783	\N	\N	EFO	5	EFO	disease	ovarian serous carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001516	"serous carcinoma located in the ovary" []	4390033	\N	\N	EFO	6	EFO	disposition	ovarian serous carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001516	"serous carcinoma located in the ovary" []	5409530	\N	\N	EFO	7	EFO	material property	ovarian serous carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001516	"serous carcinoma located in the ovary" []	6147681	\N	\N	EFO	8	EFO	experimental factor	ovarian serous carcinoma
EFO:1001517	\N	\N	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	EFO:1001517	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	71099	\N	\N	EFO	0	EFO	renal fibrosis	renal fibrosis
EFO:0003865	EFO:1001517	\N	"Tumors or cancers of the KIDNEY." []	EFO:1001517	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	213644	\N	\N	EFO	1	EFO	kidney neoplasm	renal fibrosis
EFO:0006890	EFO:1001517	\N	"the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state." []	EFO:1001517	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	213645	\N	\N	EFO	1	EFO	fibrosis	renal fibrosis
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	EFO:1001517	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	567503	\N	\N	EFO	2	EFO	kidney disease	renal fibrosis
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001517	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	567504	\N	\N	EFO	2	EFO	urogenital neoplasm	renal fibrosis
EFO:0000616	EFO:0006890	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001517	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	567505	\N	\N	EFO	2	EFO	neoplasm	renal fibrosis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001517	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	1148948	\N	\N	EFO	3	EFO	disease	renal fibrosis
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001517	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	1148949	\N	\N	EFO	3	EFO	neoplasm	renal fibrosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001517	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	2031178	\N	\N	EFO	4	EFO	disease	renal fibrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001517	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	3000092	\N	\N	EFO	5	EFO	disposition	renal fibrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001517	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	4133137	\N	\N	EFO	6	EFO	material property	renal fibrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001517	"Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." []	5181368	\N	\N	EFO	7	EFO	experimental factor	renal fibrosis
EFO:1001518	\N	\N	"Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." []	EFO:1001518	"Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." []	71100	\N	\N	EFO	0	EFO	heavy metal poisoning	heavy metal poisoning
EFO:0000408	EFO:1001518	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001518	"Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." []	213646	\N	\N	EFO	1	EFO	disease	heavy metal poisoning
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001518	"Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." []	567506	\N	\N	EFO	2	EFO	disposition	heavy metal poisoning
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001518	"Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." []	1148951	\N	\N	EFO	3	EFO	material property	heavy metal poisoning
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001518	"Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." []	2031179	\N	\N	EFO	4	EFO	experimental factor	heavy metal poisoning
EFO:1001753	\N	\N	"An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)" []	EFO:1001753	"An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)" []	71101	\N	\N	EFO	0	EFO	abdominal abscess	abdominal abscess
EFO:0003030	EFO:1001753	\N	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	EFO:1001753	"An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)" []	213647	\N	\N	EFO	1	EFO	abscess	abdominal abscess
EFO:0000771	EFO:0003030	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001753	"An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)" []	567507	\N	\N	EFO	2	EFO	bacterial disease	abdominal abscess
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001753	"An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)" []	1148952	\N	\N	EFO	3	EFO	infectious disease	abdominal abscess
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001753	"An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)" []	2031180	\N	\N	EFO	4	EFO	disease	abdominal abscess
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001753	"An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)" []	3181785	\N	\N	EFO	5	EFO	disposition	abdominal abscess
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001753	"An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)" []	4390035	\N	\N	EFO	6	EFO	material property	abdominal abscess
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001753	"An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)" []	5409531	\N	\N	EFO	7	EFO	experimental factor	abdominal abscess
EFO:1001754	\N	\N	"Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH." []	EFO:1001754	"Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH." []	71102	\N	\N	EFO	0	EFO	Abruptio Placentae	Abruptio Placentae
EFO:0000512	EFO:1001754	\N	"any diease of the reproductive system" []	EFO:1001754	"Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH." []	213648	\N	\N	EFO	1	EFO	reproductive system disease	Abruptio Placentae
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001754	"Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH." []	567508	\N	\N	EFO	2	EFO	disease	Abruptio Placentae
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001754	"Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH." []	1148953	\N	\N	EFO	3	EFO	disposition	Abruptio Placentae
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001754	"Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH." []	2031181	\N	\N	EFO	4	EFO	material property	Abruptio Placentae
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001754	"Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH." []	3181786	\N	\N	EFO	5	EFO	experimental factor	Abruptio Placentae
EFO:1001755	\N	\N	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	71103	\N	\N	EFO	0	EFO	accelerated phase myeloid leukemia	accelerated phase myeloid leukemia
EFO:0000339	EFO:1001755	\N	"Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	213649	\N	\N	EFO	1	EFO	chronic myelogenous leukemia	accelerated phase myeloid leukemia
EFO:0000565	EFO:0000339	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	567509	\N	\N	EFO	2	EFO	leukemia	accelerated phase myeloid leukemia
EFO:0002428	EFO:0000339	\N	"Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	567510	\N	\N	EFO	2	EFO	chronic myeloproliferative disorder	accelerated phase myeloid leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	1148954	\N	\N	EFO	3	EFO	lymphoid neoplasm	accelerated phase myeloid leukemia
EFO:0002427	EFO:0002428	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	1148955	\N	\N	EFO	3	EFO	myeloid neoplasm	accelerated phase myeloid leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	3181789	\N	\N	EFO	5	EFO	cancer	accelerated phase myeloid leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	3181790	\N	\N	EFO	5	EFO	hematological system disease	accelerated phase myeloid leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	2031184	\N	\N	EFO	4	EFO	lymphoid neoplasm	accelerated phase myeloid leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	4133138	\N	\N	EFO	6	EFO	neoplasm	accelerated phase myeloid leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	4133139	\N	\N	EFO	6	EFO	disease	accelerated phase myeloid leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	5181369	\N	\N	EFO	7	EFO	disease	accelerated phase myeloid leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	5996776	\N	\N	EFO	8	EFO	disposition	accelerated phase myeloid leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	6469875	\N	\N	EFO	9	EFO	material property	accelerated phase myeloid leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001755	"The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." []	6848226	\N	\N	EFO	10	EFO	experimental factor	accelerated phase myeloid leukemia
EFO:1001756	\N	\N	"A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)" []	EFO:1001756	"A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)" []	71104	\N	\N	EFO	0	EFO	Acrodynia	Acrodynia
EFO:0000618	EFO:1001756	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001756	"A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)" []	213650	\N	\N	EFO	1	EFO	nervous system disease	Acrodynia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001756	"A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)" []	567511	\N	\N	EFO	2	EFO	disease	Acrodynia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001756	"A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)" []	1148956	\N	\N	EFO	3	EFO	disposition	Acrodynia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001756	"A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)" []	2031185	\N	\N	EFO	4	EFO	material property	Acrodynia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001756	"A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)" []	3181791	\N	\N	EFO	5	EFO	experimental factor	Acrodynia
EFO:1001757	\N	\N	"The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." []	EFO:1001757	"The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." []	71105	\N	\N	EFO	0	EFO	Adenomyosis	Adenomyosis
EFO:0003893	EFO:1001757	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1001757	"The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." []	213651	\N	\N	EFO	1	EFO	ovarian neoplasm	Adenomyosis
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001757	"The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." []	567512	\N	\N	EFO	2	EFO	urogenital neoplasm	Adenomyosis
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1001757	"The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." []	567513	\N	\N	EFO	2	EFO	ovarian disease	Adenomyosis
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001757	"The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." []	1148957	\N	\N	EFO	3	EFO	neoplasm	Adenomyosis
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1001757	"The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." []	1148958	\N	\N	EFO	3	EFO	reproductive system disease	Adenomyosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001757	"The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." []	2031186	\N	\N	EFO	4	EFO	disease	Adenomyosis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001757	"The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." []	2031187	\N	\N	EFO	4	EFO	disease	Adenomyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001757	"The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." []	3181792	\N	\N	EFO	5	EFO	disposition	Adenomyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001757	"The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." []	4390038	\N	\N	EFO	6	EFO	material property	Adenomyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001757	"The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma." []	5409533	\N	\N	EFO	7	EFO	experimental factor	Adenomyosis
EFO:1001758	\N	\N	"Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS." []	EFO:1001758	"Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS." []	71106	\N	\N	EFO	0	EFO	ageusia	ageusia
EFO:0001058	EFO:1001758	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1001758	"Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS." []	213652	\N	\N	EFO	1	EFO	sensory system disease	ageusia
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001758	"Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS." []	567514	\N	\N	EFO	2	EFO	nervous system disease	ageusia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001758	"Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS." []	1148959	\N	\N	EFO	3	EFO	disease	ageusia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001758	"Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS." []	2031188	\N	\N	EFO	4	EFO	disposition	ageusia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001758	"Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS." []	3181793	\N	\N	EFO	5	EFO	material property	ageusia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001758	"Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS." []	4390039	\N	\N	EFO	6	EFO	experimental factor	ageusia
EFO:1001759	\N	\N	"A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	EFO:1001759	"A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	71107	\N	\N	EFO	0	EFO	alcohol amnestic disorder	alcohol amnestic disorder
EFO:0000677	EFO:1001759	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001759	"A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	213653	\N	\N	EFO	1	EFO	mental or behavioural disorder	alcohol amnestic disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001759	"A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	567515	\N	\N	EFO	2	EFO	brain disease	alcohol amnestic disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001759	"A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	1148960	\N	\N	EFO	3	EFO	nervous system disease	alcohol amnestic disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001759	"A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	2031189	\N	\N	EFO	4	EFO	disease	alcohol amnestic disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001759	"A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	3181794	\N	\N	EFO	5	EFO	disposition	alcohol amnestic disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001759	"A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	4390040	\N	\N	EFO	6	EFO	material property	alcohol amnestic disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001759	"A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" []	5409534	\N	\N	EFO	7	EFO	experimental factor	alcohol amnestic disorder
EFO:1001760	\N	\N	"Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures." []	EFO:1001760	"Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures." []	71108	\N	\N	EFO	0	EFO	aneurysmal bone cyst	aneurysmal bone cyst
EFO:0004260	EFO:1001760	\N	"Diseases of BONES." []	EFO:1001760	"Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures." []	213654	\N	\N	EFO	1	EFO	bone disease	aneurysmal bone cyst
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001760	"Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures." []	567516	\N	\N	EFO	2	EFO	skeletal system disease	aneurysmal bone cyst
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001760	"Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures." []	1148961	\N	\N	EFO	3	EFO	disease	aneurysmal bone cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001760	"Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures." []	2031190	\N	\N	EFO	4	EFO	disposition	aneurysmal bone cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001760	"Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures." []	3181795	\N	\N	EFO	5	EFO	material property	aneurysmal bone cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001760	"Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures." []	4390041	\N	\N	EFO	6	EFO	experimental factor	aneurysmal bone cyst
EFO:1001761	\N	\N	"A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)" []	EFO:1001761	"A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)" []	71109	\N	\N	EFO	0	EFO	Angiofibroma	Angiofibroma
EFO:0002424	EFO:1001761	\N	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	EFO:1001761	"A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)" []	213655	\N	\N	EFO	1	EFO	fibroma	Angiofibroma
EFO:0002422	EFO:0002424	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1001761	"A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)" []	567517	\N	\N	EFO	2	EFO	benign neoplasm	Angiofibroma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001761	"A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)" []	1148962	\N	\N	EFO	3	EFO	neoplasm	Angiofibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001761	"A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)" []	2031191	\N	\N	EFO	4	EFO	disease	Angiofibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001761	"A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)" []	3181796	\N	\N	EFO	5	EFO	disposition	Angiofibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001761	"A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)" []	4390042	\N	\N	EFO	6	EFO	material property	Angiofibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001761	"A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)" []	5409535	\N	\N	EFO	7	EFO	experimental factor	Angiofibroma
EFO:1001762	\N	\N	"A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" []	EFO:1001762	"A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" []	71110	\N	\N	EFO	0	EFO	autonomic dysreflexia	autonomic dysreflexia
EFO:0004149	EFO:1001762	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001762	"A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" []	213656	\N	\N	EFO	1	EFO	neuropathy	autonomic dysreflexia
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001762	"A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" []	567518	\N	\N	EFO	2	EFO	nervous system disease	autonomic dysreflexia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001762	"A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" []	1148963	\N	\N	EFO	3	EFO	disease	autonomic dysreflexia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001762	"A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" []	2031192	\N	\N	EFO	4	EFO	disposition	autonomic dysreflexia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001762	"A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" []	3181797	\N	\N	EFO	5	EFO	material property	autonomic dysreflexia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001762	"A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" []	4390043	\N	\N	EFO	6	EFO	experimental factor	autonomic dysreflexia
EFO:1001763	\N	\N	"Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale." []	EFO:1001763	"Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale." []	71111	\N	\N	EFO	0	EFO	basal cell neoplasm	basal cell neoplasm
EFO:0000616	EFO:1001763	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001763	"Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale." []	213657	\N	\N	EFO	1	EFO	neoplasm	basal cell neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001763	"Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale." []	567519	\N	\N	EFO	2	EFO	disease	basal cell neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001763	"Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale." []	1148964	\N	\N	EFO	3	EFO	disposition	basal cell neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001763	"Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale." []	2031193	\N	\N	EFO	4	EFO	material property	basal cell neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001763	"Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale." []	3181798	\N	\N	EFO	5	EFO	experimental factor	basal cell neoplasm
EFO:1001764	\N	\N	"Virus diseases caused by the BIRNAVIRIDAE." []	EFO:1001764	"Virus diseases caused by the BIRNAVIRIDAE." []	71112	\N	\N	EFO	0	EFO	Birnaviridae Infections	Birnaviridae Infections
EFO:0000763	EFO:1001764	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001764	"Virus diseases caused by the BIRNAVIRIDAE." []	213658	\N	\N	EFO	1	EFO	viral disease	Birnaviridae Infections
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001764	"Virus diseases caused by the BIRNAVIRIDAE." []	567520	\N	\N	EFO	2	EFO	infectious disease	Birnaviridae Infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001764	"Virus diseases caused by the BIRNAVIRIDAE." []	1148965	\N	\N	EFO	3	EFO	disease	Birnaviridae Infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001764	"Virus diseases caused by the BIRNAVIRIDAE." []	2031194	\N	\N	EFO	4	EFO	disposition	Birnaviridae Infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001764	"Virus diseases caused by the BIRNAVIRIDAE." []	3181799	\N	\N	EFO	5	EFO	material property	Birnaviridae Infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001764	"Virus diseases caused by the BIRNAVIRIDAE." []	4390044	\N	\N	EFO	6	EFO	experimental factor	Birnaviridae Infections
EFO:1001765	\N	\N	"INFLAMMATION of the UDDER in cows." []	EFO:1001765	"INFLAMMATION of the UDDER in cows." []	71113	\N	\N	EFO	0	EFO	Bovine mastitis	Bovine mastitis
EFO:0005932	EFO:1001765	\N	"A disease that occurs in animals." []	EFO:1001765	"INFLAMMATION of the UDDER in cows." []	213659	\N	\N	EFO	1	EFO	animal disease	Bovine mastitis
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001765	"INFLAMMATION of the UDDER in cows." []	567521	\N	\N	EFO	2	EFO	disease	Bovine mastitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001765	"INFLAMMATION of the UDDER in cows." []	1148966	\N	\N	EFO	3	EFO	disposition	Bovine mastitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001765	"INFLAMMATION of the UDDER in cows." []	2031195	\N	\N	EFO	4	EFO	material property	Bovine mastitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001765	"INFLAMMATION of the UDDER in cows." []	3181800	\N	\N	EFO	5	EFO	experimental factor	Bovine mastitis
EFO:1001766	\N	\N	"A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives." []	EFO:1001766	"A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives." []	71114	\N	\N	EFO	0	EFO	brain hypoxia	brain hypoxia
EFO:0005774	EFO:1001766	\N	"A disease affecting the brain or part of the brain." []	EFO:1001766	"A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives." []	213660	\N	\N	EFO	1	EFO	brain disease	brain hypoxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001766	"A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives." []	567522	\N	\N	EFO	2	EFO	nervous system disease	brain hypoxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001766	"A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives." []	1148967	\N	\N	EFO	3	EFO	disease	brain hypoxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001766	"A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives." []	2031196	\N	\N	EFO	4	EFO	disposition	brain hypoxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001766	"A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives." []	3181801	\N	\N	EFO	5	EFO	material property	brain hypoxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001766	"A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives." []	4390045	\N	\N	EFO	6	EFO	experimental factor	brain hypoxia
EFO:1001767	\N	\N	"Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." []	EFO:1001767	"Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." []	71115	\N	\N	EFO	0	EFO	brain stem neoplasm	brain stem neoplasm
EFO:0003833	EFO:1001767	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	EFO:1001767	"Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." []	213661	\N	\N	EFO	1	EFO	brain neoplasm	brain stem neoplasm
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001767	"Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." []	567523	\N	\N	EFO	2	EFO	neoplasm	brain stem neoplasm
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	EFO:1001767	"Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." []	567524	\N	\N	EFO	2	EFO	brain disease	brain stem neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001767	"Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." []	1148968	\N	\N	EFO	3	EFO	disease	brain stem neoplasm
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001767	"Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." []	1148969	\N	\N	EFO	3	EFO	nervous system disease	brain stem neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001767	"Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." []	3181803	\N	\N	EFO	5	EFO	disposition	brain stem neoplasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001767	"Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." []	2031198	\N	\N	EFO	4	EFO	disease	brain stem neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001767	"Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." []	4133140	\N	\N	EFO	6	EFO	material property	brain stem neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001767	"Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." []	5181371	\N	\N	EFO	7	EFO	experimental factor	brain stem neoplasm
EFO:1001768	\N	\N	"Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." []	EFO:1001768	"Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." []	71116	\N	\N	EFO	0	EFO	cadmium poisoning	cadmium poisoning
EFO:1001518	EFO:1001768	\N	"Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." []	EFO:1001768	"Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." []	213662	\N	\N	EFO	1	EFO	heavy metal poisoning	cadmium poisoning
EFO:0000408	EFO:1001518	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001768	"Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." []	567525	\N	\N	EFO	2	EFO	disease	cadmium poisoning
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001768	"Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." []	1148970	\N	\N	EFO	3	EFO	disposition	cadmium poisoning
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001768	"Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." []	2031199	\N	\N	EFO	4	EFO	material property	cadmium poisoning
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001768	"Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." []	3181804	\N	\N	EFO	5	EFO	experimental factor	cadmium poisoning
EFO:1001769	\N	\N	"Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." []	EFO:1001769	"Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." []	71117	\N	\N	EFO	0	EFO	carcinoid heart disease	carcinoid heart disease
EFO:0003777	EFO:1001769	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001769	"Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." []	213663	\N	\N	EFO	1	EFO	heart disease	carcinoid heart disease
EFO:0004243	EFO:1001769	\N	"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)" []	EFO:1001769	"Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." []	213664	\N	\N	EFO	1	EFO	carcinoid tumor	carcinoid heart disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001769	"Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." []	567526	\N	\N	EFO	2	EFO	cardiovascular disease	carcinoid heart disease
EFO:0000616	EFO:0004243	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001769	"Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." []	567527	\N	\N	EFO	2	EFO	neoplasm	carcinoid heart disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001769	"Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." []	1148971	\N	\N	EFO	3	EFO	disease	carcinoid heart disease
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001769	"Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." []	1148972	\N	\N	EFO	3	EFO	disease	carcinoid heart disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001769	"Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." []	2031200	\N	\N	EFO	4	EFO	disposition	carcinoid heart disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001769	"Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." []	3181805	\N	\N	EFO	5	EFO	material property	carcinoid heart disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001769	"Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." []	4390047	\N	\N	EFO	6	EFO	experimental factor	carcinoid heart disease
EFO:1001770	\N	\N	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	71118	\N	\N	EFO	0	EFO	Carcinoma, Lewis Lung	Carcinoma, Lewis Lung
EFO:0001071	EFO:1001770	\N	"Tumors or cancer of the LUNG." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	213665	\N	\N	EFO	1	EFO	lung carcinoma	Carcinoma, Lewis Lung
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	567528	\N	\N	EFO	2	EFO	carcinoma	Carcinoma, Lewis Lung
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	567529	\N	\N	EFO	2	EFO	lung disease	Carcinoma, Lewis Lung
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	567530	\N	\N	EFO	2	EFO	respiratory system neoplasm	Carcinoma, Lewis Lung
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	1148973	\N	\N	EFO	3	EFO	cancer	Carcinoma, Lewis Lung
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	1148974	\N	\N	EFO	3	EFO	epithelial neoplasm	Carcinoma, Lewis Lung
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	1148975	\N	\N	EFO	3	EFO	respiratory system disease	Carcinoma, Lewis Lung
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	1148976	\N	\N	EFO	3	EFO	neoplasm	Carcinoma, Lewis Lung
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	1148977	\N	\N	EFO	3	EFO	respiratory system disease	Carcinoma, Lewis Lung
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	2031201	\N	\N	EFO	4	EFO	neoplasm	Carcinoma, Lewis Lung
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	2031202	\N	\N	EFO	4	EFO	neoplasm	Carcinoma, Lewis Lung
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	2031203	\N	\N	EFO	4	EFO	disease	Carcinoma, Lewis Lung
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	3181806	\N	\N	EFO	5	EFO	disease	Carcinoma, Lewis Lung
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	4133141	\N	\N	EFO	6	EFO	disposition	Carcinoma, Lewis Lung
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	5181372	\N	\N	EFO	7	EFO	material property	Carcinoma, Lewis Lung
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001770	"A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." []	5996778	\N	\N	EFO	8	EFO	experimental factor	Carcinoma, Lewis Lung
EFO:1001771	\N	\N	"Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)." []	EFO:1001771	"Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)." []	71119	\N	\N	EFO	0	EFO	cardiac edema	cardiac edema
EFO:0003777	EFO:1001771	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001771	"Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)." []	213666	\N	\N	EFO	1	EFO	heart disease	cardiac edema
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001771	"Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)." []	567531	\N	\N	EFO	2	EFO	cardiovascular disease	cardiac edema
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001771	"Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)." []	1148978	\N	\N	EFO	3	EFO	disease	cardiac edema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001771	"Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)." []	2031205	\N	\N	EFO	4	EFO	disposition	cardiac edema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001771	"Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)." []	3181808	\N	\N	EFO	5	EFO	material property	cardiac edema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001771	"Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)." []	4390049	\N	\N	EFO	6	EFO	experimental factor	cardiac edema
EFO:1001772	\N	\N	"A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent." []	EFO:1001772	"A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent." []	71120	\N	\N	EFO	0	EFO	Central Cord Syndrome	Central Cord Syndrome
EFO:0000618	EFO:1001772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001772	"A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent." []	213667	\N	\N	EFO	1	EFO	nervous system disease	Central Cord Syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001772	"A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent." []	567532	\N	\N	EFO	2	EFO	disease	Central Cord Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001772	"A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent." []	1148979	\N	\N	EFO	3	EFO	disposition	Central Cord Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001772	"A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent." []	2031206	\N	\N	EFO	4	EFO	material property	Central Cord Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001772	"A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent." []	3181809	\N	\N	EFO	5	EFO	experimental factor	Central Cord Syndrome
EFO:1001773	\N	\N	"Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)." []	EFO:1001773	"Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)." []	71121	\N	\N	EFO	0	EFO	Central Nervous System Helminthiasis	Central Nervous System Helminthiasis
EFO:1001342	EFO:1001773	\N	"Infestation with parasitic worms of the helminth class." []	EFO:1001773	"Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)." []	213668	\N	\N	EFO	1	EFO	Helminthiasis	Central Nervous System Helminthiasis
EFO:0001067	EFO:1001342	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001773	"Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)." []	567533	\N	\N	EFO	2	EFO	parasitic infection	Central Nervous System Helminthiasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001773	"Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)." []	1148980	\N	\N	EFO	3	EFO	infectious disease	Central Nervous System Helminthiasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001773	"Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)." []	2031207	\N	\N	EFO	4	EFO	disease	Central Nervous System Helminthiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001773	"Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)." []	3181810	\N	\N	EFO	5	EFO	disposition	Central Nervous System Helminthiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001773	"Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)." []	4390050	\N	\N	EFO	6	EFO	material property	Central Nervous System Helminthiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001773	"Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)." []	5409537	\N	\N	EFO	7	EFO	experimental factor	Central Nervous System Helminthiasis
EFO:1001774	\N	\N	"A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." []	EFO:1001774	"A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." []	71122	\N	\N	EFO	0	EFO	central nervous system venous angioma	central nervous system venous angioma
EFO:0000618	EFO:1001774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001774	"A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." []	213669	\N	\N	EFO	1	EFO	nervous system disease	central nervous system venous angioma
EFO:0004264	EFO:1001774	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001774	"A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." []	213670	\N	\N	EFO	1	EFO	vascular disease	central nervous system venous angioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001774	"A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." []	567534	\N	\N	EFO	2	EFO	disease	central nervous system venous angioma
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001774	"A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." []	567535	\N	\N	EFO	2	EFO	cardiovascular disease	central nervous system venous angioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001774	"A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." []	2031209	\N	\N	EFO	4	EFO	disposition	central nervous system venous angioma
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001774	"A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." []	1148982	\N	\N	EFO	3	EFO	disease	central nervous system venous angioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001774	"A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." []	3000093	\N	\N	EFO	5	EFO	material property	central nervous system venous angioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001774	"A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." []	4133142	\N	\N	EFO	6	EFO	experimental factor	central nervous system venous angioma
EFO:1001775	\N	\N	"Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)" []	EFO:1001775	"Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)" []	71123	\N	\N	EFO	0	EFO	cerebrospinal fluid otorrhea	cerebrospinal fluid otorrhea
EFO:0000618	EFO:1001775	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001775	"Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)" []	213671	\N	\N	EFO	1	EFO	nervous system disease	cerebrospinal fluid otorrhea
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001775	"Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)" []	567536	\N	\N	EFO	2	EFO	disease	cerebrospinal fluid otorrhea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001775	"Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)" []	1148983	\N	\N	EFO	3	EFO	disposition	cerebrospinal fluid otorrhea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001775	"Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)" []	2031210	\N	\N	EFO	4	EFO	material property	cerebrospinal fluid otorrhea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001775	"Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)" []	3181812	\N	\N	EFO	5	EFO	experimental factor	cerebrospinal fluid otorrhea
EFO:1001776	\N	\N	"Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." []	EFO:1001776	"Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." []	71124	\N	\N	EFO	0	EFO	Chilaiditi Syndrome	Chilaiditi Syndrome
EFO:0000405	EFO:1001776	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001776	"Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." []	213672	\N	\N	EFO	1	EFO	digestive system disease	Chilaiditi Syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001776	"Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." []	567537	\N	\N	EFO	2	EFO	disease	Chilaiditi Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001776	"Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." []	1148984	\N	\N	EFO	3	EFO	disposition	Chilaiditi Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001776	"Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." []	2031211	\N	\N	EFO	4	EFO	material property	Chilaiditi Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001776	"Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." []	3181813	\N	\N	EFO	5	EFO	experimental factor	Chilaiditi Syndrome
EFO:1001777	\N	\N	"ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants." []	EFO:1001777	"ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants." []	71125	\N	\N	EFO	0	EFO	chloracne	chloracne
EFO:0000701	EFO:1001777	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001777	"ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants." []	213673	\N	\N	EFO	1	EFO	skin disease	chloracne
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001777	"ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants." []	567538	\N	\N	EFO	2	EFO	disease	chloracne
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001777	"ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants." []	1148985	\N	\N	EFO	3	EFO	disposition	chloracne
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001777	"ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants." []	2031212	\N	\N	EFO	4	EFO	material property	chloracne
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001777	"ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants." []	3181814	\N	\N	EFO	5	EFO	experimental factor	chloracne
EFO:1001778	\N	\N	"Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes." []	EFO:1001778	"Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes." []	71126	\N	\N	EFO	0	EFO	chromosome-defective micronuclei	chromosome-defective micronuclei
EFO:0000508	EFO:1001778	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001778	"Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes." []	213674	\N	\N	EFO	1	EFO	genetic disorder	chromosome-defective micronuclei
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001778	"Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes." []	567539	\N	\N	EFO	2	EFO	disease	chromosome-defective micronuclei
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001778	"Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes." []	1148986	\N	\N	EFO	3	EFO	disposition	chromosome-defective micronuclei
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001778	"Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes." []	2031213	\N	\N	EFO	4	EFO	material property	chromosome-defective micronuclei
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001778	"Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes." []	3181815	\N	\N	EFO	5	EFO	experimental factor	chromosome-defective micronuclei
EFO:1001779	\N	\N	"A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." []	EFO:1001779	"A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." []	71127	\N	\N	EFO	0	EFO	chronic myelomonocytic leukemia	chronic myelomonocytic leukemia
EFO:0000565	EFO:1001779	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1001779	"A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." []	213675	\N	\N	EFO	1	EFO	leukemia	chronic myelomonocytic leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001779	"A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." []	567540	\N	\N	EFO	2	EFO	lymphoid neoplasm	chronic myelomonocytic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001779	"A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." []	1148987	\N	\N	EFO	3	EFO	cancer	chronic myelomonocytic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001779	"A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." []	1148988	\N	\N	EFO	3	EFO	hematological system disease	chronic myelomonocytic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001779	"A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." []	2031214	\N	\N	EFO	4	EFO	neoplasm	chronic myelomonocytic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001779	"A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." []	2031215	\N	\N	EFO	4	EFO	disease	chronic myelomonocytic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001779	"A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." []	3181816	\N	\N	EFO	5	EFO	disease	chronic myelomonocytic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001779	"A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." []	4390051	\N	\N	EFO	6	EFO	disposition	chronic myelomonocytic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001779	"A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." []	5181373	\N	\N	EFO	7	EFO	material property	chronic myelomonocytic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001779	"A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." []	5996779	\N	\N	EFO	8	EFO	experimental factor	chronic myelomonocytic leukemia
EFO:1001780	\N	\N	"The presence of chyle in the thoracic cavity. (Dorland, 27th ed)" []	EFO:1001780	"The presence of chyle in the thoracic cavity. (Dorland, 27th ed)" []	71128	\N	\N	EFO	0	EFO	Chylothorax	Chylothorax
EFO:0007352	EFO:1001780	\N	"a disease in lymphatic system" []	EFO:1001780	"The presence of chyle in the thoracic cavity. (Dorland, 27th ed)" []	213676	\N	\N	EFO	1	EFO	lymphatic system disease	Chylothorax
EFO:0005803	EFO:0007352	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001780	"The presence of chyle in the thoracic cavity. (Dorland, 27th ed)" []	567541	\N	\N	EFO	2	EFO	hematological system disease	Chylothorax
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001780	"The presence of chyle in the thoracic cavity. (Dorland, 27th ed)" []	1148989	\N	\N	EFO	3	EFO	disease	Chylothorax
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001780	"The presence of chyle in the thoracic cavity. (Dorland, 27th ed)" []	2031216	\N	\N	EFO	4	EFO	disposition	Chylothorax
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001780	"The presence of chyle in the thoracic cavity. (Dorland, 27th ed)" []	3181818	\N	\N	EFO	5	EFO	material property	Chylothorax
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001780	"The presence of chyle in the thoracic cavity. (Dorland, 27th ed)" []	4390053	\N	\N	EFO	6	EFO	experimental factor	Chylothorax
EFO:1001781	\N	\N	"A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." []	EFO:1001781	"A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." []	71129	\N	\N	EFO	0	EFO	Commotio Cordis	Commotio Cordis
EFO:0004269	EFO:1001781	\N	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	EFO:1001781	"A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." []	213677	\N	\N	EFO	1	EFO	cardiac arrhythmia	Commotio Cordis
EFO:0003777	EFO:0004269	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001781	"A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." []	567542	\N	\N	EFO	2	EFO	heart disease	Commotio Cordis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001781	"A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." []	1148990	\N	\N	EFO	3	EFO	cardiovascular disease	Commotio Cordis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001781	"A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." []	2031217	\N	\N	EFO	4	EFO	disease	Commotio Cordis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001781	"A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." []	3181819	\N	\N	EFO	5	EFO	disposition	Commotio Cordis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001781	"A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." []	4390054	\N	\N	EFO	6	EFO	material property	Commotio Cordis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001781	"A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." []	5409539	\N	\N	EFO	7	EFO	experimental factor	Commotio Cordis
EFO:1001782	\N	\N	"The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." []	EFO:1001782	"The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." []	71130	\N	\N	EFO	0	EFO	dental pulp exposure	dental pulp exposure
EFO:1001047	EFO:1001782	\N	"Any disease of the oral cavity" []	EFO:1001782	"The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." []	213678	\N	\N	EFO	1	EFO	mouth disease	dental pulp exposure
EFO:0000405	EFO:1001047	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001782	"The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." []	567543	\N	\N	EFO	2	EFO	digestive system disease	dental pulp exposure
EFO:0000524	EFO:1001047	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001782	"The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." []	567544	\N	\N	EFO	2	EFO	head disease	dental pulp exposure
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001782	"The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." []	1148991	\N	\N	EFO	3	EFO	disease	dental pulp exposure
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001782	"The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." []	1148992	\N	\N	EFO	3	EFO	disease	dental pulp exposure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001782	"The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." []	2031218	\N	\N	EFO	4	EFO	disposition	dental pulp exposure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001782	"The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." []	3181820	\N	\N	EFO	5	EFO	material property	dental pulp exposure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001782	"The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." []	4390055	\N	\N	EFO	6	EFO	experimental factor	dental pulp exposure
EFO:1001783	\N	\N	"A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)" []	EFO:1001783	"A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)" []	71131	\N	\N	EFO	0	EFO	desmoplastic fibroma	desmoplastic fibroma
EFO:0002424	EFO:1001783	\N	"A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts." []	EFO:1001783	"A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)" []	213679	\N	\N	EFO	1	EFO	fibroma	desmoplastic fibroma
EFO:0002422	EFO:0002424	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1001783	"A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)" []	567545	\N	\N	EFO	2	EFO	benign neoplasm	desmoplastic fibroma
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001783	"A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)" []	1148993	\N	\N	EFO	3	EFO	neoplasm	desmoplastic fibroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001783	"A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)" []	2031219	\N	\N	EFO	4	EFO	disease	desmoplastic fibroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001783	"A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)" []	3181821	\N	\N	EFO	5	EFO	disposition	desmoplastic fibroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001783	"A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)" []	4390056	\N	\N	EFO	6	EFO	material property	desmoplastic fibroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001783	"A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)" []	5409540	\N	\N	EFO	7	EFO	experimental factor	desmoplastic fibroma
EFO:1001784	\N	\N	"A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." []	EFO:1001784	"A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." []	71132	\N	\N	EFO	0	EFO	diffuse cutaneous Leishmaniasis	diffuse cutaneous Leishmaniasis
EFO:0005046	EFO:1001784	\N	"Is a parasitic infection of  the skin caused by the Leishmania protozoan parasite" []	EFO:1001784	"A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." []	213680	\N	\N	EFO	1	EFO	cutaneous Leishmaniasis	diffuse cutaneous Leishmaniasis
EFO:0005044	EFO:0005046	\N	"Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)." []	EFO:1001784	"A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." []	567546	\N	\N	EFO	2	EFO	Leishmaniasis	diffuse cutaneous Leishmaniasis
EFO:0001067	EFO:0005044	\N	"Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure." []	EFO:1001784	"A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." []	1148994	\N	\N	EFO	3	EFO	parasitic infection	diffuse cutaneous Leishmaniasis
EFO:0005741	EFO:0001067	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001784	"A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." []	2031220	\N	\N	EFO	4	EFO	infectious disease	diffuse cutaneous Leishmaniasis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001784	"A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." []	3181822	\N	\N	EFO	5	EFO	disease	diffuse cutaneous Leishmaniasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001784	"A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." []	4390057	\N	\N	EFO	6	EFO	disposition	diffuse cutaneous Leishmaniasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001784	"A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." []	5409541	\N	\N	EFO	7	EFO	material property	diffuse cutaneous Leishmaniasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001784	"A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." []	6147683	\N	\N	EFO	8	EFO	experimental factor	diffuse cutaneous Leishmaniasis
EFO:1001785	\N	\N	"A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA." []	EFO:1001785	"A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA." []	71133	\N	\N	EFO	0	EFO	diffuse esophageal spasm	diffuse esophageal spasm
EFO:0000405	EFO:1001785	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001785	"A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA." []	213681	\N	\N	EFO	1	EFO	digestive system disease	diffuse esophageal spasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001785	"A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA." []	567547	\N	\N	EFO	2	EFO	disease	diffuse esophageal spasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001785	"A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA." []	1148995	\N	\N	EFO	3	EFO	disposition	diffuse esophageal spasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001785	"A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA." []	2031221	\N	\N	EFO	4	EFO	material property	diffuse esophageal spasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001785	"A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA." []	3181823	\N	\N	EFO	5	EFO	experimental factor	diffuse esophageal spasm
EFO:1001786	\N	\N	"A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed)" []	EFO:1001786	"A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed)" []	71134	\N	\N	EFO	0	EFO	erythroplasia	erythroplasia
EFO:0000616	EFO:1001786	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001786	"A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed)" []	213682	\N	\N	EFO	1	EFO	neoplasm	erythroplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001786	"A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed)" []	567548	\N	\N	EFO	2	EFO	disease	erythroplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001786	"A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed)" []	1148996	\N	\N	EFO	3	EFO	disposition	erythroplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001786	"A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed)" []	2031222	\N	\N	EFO	4	EFO	material property	erythroplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001786	"A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed)" []	3181824	\N	\N	EFO	5	EFO	experimental factor	erythroplasia
EFO:1001787	\N	\N	"ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN." []	EFO:1001787	"ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN." []	71135	\N	\N	EFO	0	EFO	experimental arthritis	experimental arthritis
EFO:0005932	EFO:1001787	\N	"A disease that occurs in animals." []	EFO:1001787	"ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN." []	213683	\N	\N	EFO	1	EFO	animal disease	experimental arthritis
EFO:0000408	EFO:0005932	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001787	"ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN." []	567549	\N	\N	EFO	2	EFO	disease	experimental arthritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001787	"ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN." []	1148997	\N	\N	EFO	3	EFO	disposition	experimental arthritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001787	"ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN." []	2031223	\N	\N	EFO	4	EFO	material property	experimental arthritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001787	"ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN." []	3181825	\N	\N	EFO	5	EFO	experimental factor	experimental arthritis
EFO:1001788	\N	\N	"Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation." []	EFO:1001788	"Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation." []	71136	\N	\N	EFO	0	EFO	Eye Burns	Eye Burns
EFO:0003843	EFO:1001788	\N	"An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." []	EFO:1001788	"Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation." []	213684	\N	\N	EFO	1	EFO	pain	Eye Burns
EFO:0003765	EFO:0003843	\N	"Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)." []	EFO:1001788	"Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation." []	567550	\N	\N	EFO	2	EFO	sign or symptom	Eye Burns
EFO:0000651	EFO:0003765	\N	"The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease.  The detectable outward manifestations of a specific genotype." []	EFO:1001788	"Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation." []	1148998	\N	\N	EFO	3	EFO	phenotype	Eye Burns
BFO:0000019	EFO:0000651	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	EFO:1001788	"Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation." []	2031224	\N	\N	EFO	4	EFO	quality	Eye Burns
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001788	"Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation." []	3181826	\N	\N	EFO	5	EFO	material property	Eye Burns
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001788	"Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation." []	4390058	\N	\N	EFO	6	EFO	experimental factor	Eye Burns
EFO:1001789	\N	\N	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	71137	\N	\N	EFO	0	EFO	familial apolipoprotein B hypobetalipoproteinemia	familial apolipoprotein B hypobetalipoproteinemia
Orphanet:31154	EFO:1001789	\N	"" []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	213685	\N	\N	EFO	1	EFO	Hypobetalipoproteinemia	familial apolipoprotein B hypobetalipoproteinemia
Orphanet:181431	Orphanet:31154	\N	"" []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	567551	\N	\N	EFO	2	EFO	Rare hypolipidemia	familial apolipoprotein B hypobetalipoproteinemia
Orphanet:101953	Orphanet:181431	\N	"" []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	1148999	\N	\N	EFO	3	EFO	Rare dyslipidemia	familial apolipoprotein B hypobetalipoproteinemia
Orphanet:156638	Orphanet:101953	\N	"" []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	2031225	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	familial apolipoprotein B hypobetalipoproteinemia
Orphanet:309005	Orphanet:101953	\N	"" []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	2031226	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	familial apolipoprotein B hypobetalipoproteinemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	3181827	\N	\N	EFO	5	EFO	genetic disorder	familial apolipoprotein B hypobetalipoproteinemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	3181828	\N	\N	EFO	5	EFO	endocrine system disease	familial apolipoprotein B hypobetalipoproteinemia
Orphanet:68367	Orphanet:309005	\N	"" []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	3181829	\N	\N	EFO	5	EFO	Inborn errors of metabolism	familial apolipoprotein B hypobetalipoproteinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	5409543	\N	\N	EFO	7	EFO	disease	familial apolipoprotein B hypobetalipoproteinemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	4390060	\N	\N	EFO	6	EFO	disease	familial apolipoprotein B hypobetalipoproteinemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	4390061	\N	\N	EFO	6	EFO	genetic disorder	familial apolipoprotein B hypobetalipoproteinemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	4390062	\N	\N	EFO	6	EFO	metabolic disease	familial apolipoprotein B hypobetalipoproteinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	5996780	\N	\N	EFO	8	EFO	disposition	familial apolipoprotein B hypobetalipoproteinemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	5409544	\N	\N	EFO	7	EFO	disease	familial apolipoprotein B hypobetalipoproteinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	6550425	\N	\N	EFO	9	EFO	material property	familial apolipoprotein B hypobetalipoproteinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001789	"An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." []	6888987	\N	\N	EFO	10	EFO	experimental factor	familial apolipoprotein B hypobetalipoproteinemia
EFO:1001790	\N	\N	"A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." []	EFO:1001790	"A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." []	71138	\N	\N	EFO	0	EFO	female athlete triad syndrome	female athlete triad syndrome
EFO:0001379	EFO:1001790	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001790	"A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." []	213686	\N	\N	EFO	1	EFO	endocrine system disease	female athlete triad syndrome
EFO:0005203	EFO:1001790	\N	"A group of disorders characterized by physiological and psychological disturbances in appetite or food intake." []	EFO:1001790	"A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." []	213687	\N	\N	EFO	1	EFO	eating disorder	female athlete triad syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001790	"A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." []	567552	\N	\N	EFO	2	EFO	disease	female athlete triad syndrome
EFO:0000677	EFO:0005203	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001790	"A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." []	567553	\N	\N	EFO	2	EFO	mental or behavioural disorder	female athlete triad syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001790	"A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." []	4390063	\N	\N	EFO	6	EFO	disposition	female athlete triad syndrome
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001790	"A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." []	1149001	\N	\N	EFO	3	EFO	brain disease	female athlete triad syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001790	"A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." []	5028369	\N	\N	EFO	7	EFO	material property	female athlete triad syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001790	"A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." []	2031228	\N	\N	EFO	4	EFO	nervous system disease	female athlete triad syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001790	"A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." []	5817414	\N	\N	EFO	8	EFO	experimental factor	female athlete triad syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001790	"A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS." []	3181831	\N	\N	EFO	5	EFO	disease	female athlete triad syndrome
EFO:1001791	\N	\N	"A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL." []	EFO:1001791	"A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL." []	71139	\N	\N	EFO	0	EFO	femoral hernia	femoral hernia
EFO:0002970	EFO:1001791	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1001791	"A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL." []	213688	\N	\N	EFO	1	EFO	muscular disease	femoral hernia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1001791	"A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL." []	567554	\N	\N	EFO	2	EFO	skeletal system disease	femoral hernia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001791	"A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL." []	1149002	\N	\N	EFO	3	EFO	disease	femoral hernia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001791	"A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL." []	2031229	\N	\N	EFO	4	EFO	disposition	femoral hernia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001791	"A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL." []	3181832	\N	\N	EFO	5	EFO	material property	femoral hernia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001791	"A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL." []	4390064	\N	\N	EFO	6	EFO	experimental factor	femoral hernia
EFO:1001792	\N	\N	"Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." []	EFO:1001792	"Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." []	71140	\N	\N	EFO	0	EFO	femoral neck fracture	femoral neck fracture
EFO:0003931	EFO:1001792	\N	"Breaks in bones." []	EFO:1001792	"Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." []	213689	\N	\N	EFO	1	EFO	bone fracture	femoral neck fracture
EFO:0004260	EFO:0003931	\N	"Diseases of BONES." []	EFO:1001792	"Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." []	567555	\N	\N	EFO	2	EFO	bone disease	femoral neck fracture
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001792	"Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." []	1149003	\N	\N	EFO	3	EFO	skeletal system disease	femoral neck fracture
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001792	"Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." []	2031230	\N	\N	EFO	4	EFO	disease	femoral neck fracture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001792	"Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." []	3181833	\N	\N	EFO	5	EFO	disposition	femoral neck fracture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001792	"Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." []	4390065	\N	\N	EFO	6	EFO	material property	femoral neck fracture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001792	"Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." []	5409545	\N	\N	EFO	7	EFO	experimental factor	femoral neck fracture
EFO:1001793	\N	\N	"Deficient oxygenation of FETAL BLOOD." []	EFO:1001793	"Deficient oxygenation of FETAL BLOOD." []	71141	\N	\N	EFO	0	EFO	fetal hypoxia	fetal hypoxia
EFO:0005803	EFO:1001793	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001793	"Deficient oxygenation of FETAL BLOOD." []	213690	\N	\N	EFO	1	EFO	hematological system disease	fetal hypoxia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001793	"Deficient oxygenation of FETAL BLOOD." []	567556	\N	\N	EFO	2	EFO	disease	fetal hypoxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001793	"Deficient oxygenation of FETAL BLOOD." []	1149004	\N	\N	EFO	3	EFO	disposition	fetal hypoxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001793	"Deficient oxygenation of FETAL BLOOD." []	2031231	\N	\N	EFO	4	EFO	material property	fetal hypoxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001793	"Deficient oxygenation of FETAL BLOOD." []	3181834	\N	\N	EFO	5	EFO	experimental factor	fetal hypoxia
EFO:1001794	\N	\N	"Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)" []	EFO:1001794	"Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)" []	71142	\N	\N	EFO	0	EFO	fetomaternal transfusion	fetomaternal transfusion
EFO:0007441	EFO:1001794	\N	"a disease located in the placenta" []	EFO:1001794	"Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)" []	213691	\N	\N	EFO	1	EFO	placenta disease	fetomaternal transfusion
EFO:0000512	EFO:0007441	\N	"any diease of the reproductive system" []	EFO:1001794	"Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)" []	567557	\N	\N	EFO	2	EFO	reproductive system disease	fetomaternal transfusion
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001794	"Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)" []	1149005	\N	\N	EFO	3	EFO	disease	fetomaternal transfusion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001794	"Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)" []	2031232	\N	\N	EFO	4	EFO	disposition	fetomaternal transfusion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001794	"Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)" []	3181835	\N	\N	EFO	5	EFO	material property	fetomaternal transfusion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001794	"Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)" []	4390066	\N	\N	EFO	6	EFO	experimental factor	fetomaternal transfusion
EFO:1001795	\N	\N	"OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections." []	EFO:1001795	"OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections." []	71143	\N	\N	EFO	0	EFO	fusariosis	fusariosis
EFO:0005741	EFO:1001795	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001795	"OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections." []	213692	\N	\N	EFO	1	EFO	infectious disease	fusariosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001795	"OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections." []	567558	\N	\N	EFO	2	EFO	disease	fusariosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001795	"OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections." []	1149006	\N	\N	EFO	3	EFO	disposition	fusariosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001795	"OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections." []	2031233	\N	\N	EFO	4	EFO	material property	fusariosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001795	"OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections." []	3181836	\N	\N	EFO	5	EFO	experimental factor	fusariosis
EFO:1001796	\N	\N	"A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)" []	EFO:1001796	"A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)" []	71144	\N	\N	EFO	0	EFO	Glomus Jugulare Tumor	Glomus Jugulare Tumor
EFO:0000616	EFO:1001796	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001796	"A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)" []	213693	\N	\N	EFO	1	EFO	neoplasm	Glomus Jugulare Tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001796	"A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)" []	567559	\N	\N	EFO	2	EFO	disease	Glomus Jugulare Tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001796	"A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)" []	1149007	\N	\N	EFO	3	EFO	disposition	Glomus Jugulare Tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001796	"A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)" []	2031234	\N	\N	EFO	4	EFO	material property	Glomus Jugulare Tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001796	"A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)" []	3181837	\N	\N	EFO	5	EFO	experimental factor	Glomus Jugulare Tumor
EFO:1001797	\N	\N	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	EFO:1001797	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	71145	\N	\N	EFO	0	EFO	Hemoglobin SC Disease	Hemoglobin SC Disease
Orphanet:275752	EFO:1001797	\N	"" []	EFO:1001797	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	213694	\N	\N	EFO	1	EFO	Sickle cell disease and related diseases	Hemoglobin SC Disease
Orphanet:68364	Orphanet:275752	\N	"" []	EFO:1001797	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	567560	\N	\N	EFO	2	EFO	Hemoglobinopathy	Hemoglobin SC Disease
Orphanet:183651	Orphanet:68364	\N	"" []	EFO:1001797	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	1149008	\N	\N	EFO	3	EFO	Rare constitutional anemia	Hemoglobin SC Disease
Orphanet:158300	Orphanet:183651	\N	"" []	EFO:1001797	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	2031235	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hemoglobin SC Disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001797	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	3181838	\N	\N	EFO	5	EFO	genetic disorder	Hemoglobin SC Disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001797	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	3181839	\N	\N	EFO	5	EFO	hematological system disease	Hemoglobin SC Disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001797	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	4390067	\N	\N	EFO	6	EFO	disease	Hemoglobin SC Disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001797	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	4390068	\N	\N	EFO	6	EFO	disease	Hemoglobin SC Disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001797	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	5409546	\N	\N	EFO	7	EFO	disposition	Hemoglobin SC Disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001797	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	6147685	\N	\N	EFO	8	EFO	material property	Hemoglobin SC Disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001797	"One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." []	6631885	\N	\N	EFO	9	EFO	experimental factor	Hemoglobin SC Disease
EFO:1001798	\N	\N	"A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA." []	EFO:1001798	"A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA." []	71146	\N	\N	EFO	0	EFO	immunoproliferative small intestinal disease	immunoproliferative small intestinal disease
EFO:0000405	EFO:1001798	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001798	"A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA." []	213695	\N	\N	EFO	1	EFO	digestive system disease	immunoproliferative small intestinal disease
EFO:0000536	EFO:1001798	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1001798	"A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA." []	213696	\N	\N	EFO	1	EFO	hyperplasia	immunoproliferative small intestinal disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001798	"A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA." []	567561	\N	\N	EFO	2	EFO	disease	immunoproliferative small intestinal disease
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001798	"A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA." []	567562	\N	\N	EFO	2	EFO	disease	immunoproliferative small intestinal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001798	"A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA." []	1149009	\N	\N	EFO	3	EFO	disposition	immunoproliferative small intestinal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001798	"A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA." []	2031236	\N	\N	EFO	4	EFO	material property	immunoproliferative small intestinal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001798	"A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA." []	3181840	\N	\N	EFO	5	EFO	experimental factor	immunoproliferative small intestinal disease
EFO:1001799	\N	\N	"Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled." []	EFO:1001799	"Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled." []	71147	\N	\N	EFO	0	EFO	incomplete abortion	incomplete abortion
EFO:1001491	EFO:1001799	\N	"the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus." []	EFO:1001799	"Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled." []	213697	\N	\N	EFO	1	EFO	abortion	incomplete abortion
EFO:0000512	EFO:1001491	\N	"any diease of the reproductive system" []	EFO:1001799	"Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled." []	567563	\N	\N	EFO	2	EFO	reproductive system disease	incomplete abortion
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001799	"Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled." []	1149010	\N	\N	EFO	3	EFO	disease	incomplete abortion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001799	"Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled." []	2031237	\N	\N	EFO	4	EFO	disposition	incomplete abortion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001799	"Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled." []	3181841	\N	\N	EFO	5	EFO	material property	incomplete abortion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001799	"Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled." []	4390069	\N	\N	EFO	6	EFO	experimental factor	incomplete abortion
EFO:1001800	\N	\N	"An INTERVERTEBRAL DISC in which the nucleus pulposus has protruded through surrounding fibrocartilage. This occurs most frequently in the lower lumbar region." []	EFO:1001800	"An INTERVERTEBRAL DISC in which the nucleus pulposus has protruded through surrounding fibrocartilage. This occurs most frequently in the lower lumbar region." []	71148	\N	\N	EFO	0	EFO	Intervertebral Disc Displacement	Intervertebral Disc Displacement
EFO:0004260	EFO:1001800	\N	"Diseases of BONES." []	EFO:1001800	"An INTERVERTEBRAL DISC in which the nucleus pulposus has protruded through surrounding fibrocartilage. This occurs most frequently in the lower lumbar region." []	213698	\N	\N	EFO	1	EFO	bone disease	Intervertebral Disc Displacement
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001800	"An INTERVERTEBRAL DISC in which the nucleus pulposus has protruded through surrounding fibrocartilage. This occurs most frequently in the lower lumbar region." []	567564	\N	\N	EFO	2	EFO	skeletal system disease	Intervertebral Disc Displacement
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001800	"An INTERVERTEBRAL DISC in which the nucleus pulposus has protruded through surrounding fibrocartilage. This occurs most frequently in the lower lumbar region." []	1149011	\N	\N	EFO	3	EFO	disease	Intervertebral Disc Displacement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001800	"An INTERVERTEBRAL DISC in which the nucleus pulposus has protruded through surrounding fibrocartilage. This occurs most frequently in the lower lumbar region." []	2031238	\N	\N	EFO	4	EFO	disposition	Intervertebral Disc Displacement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001800	"An INTERVERTEBRAL DISC in which the nucleus pulposus has protruded through surrounding fibrocartilage. This occurs most frequently in the lower lumbar region." []	3181842	\N	\N	EFO	5	EFO	material property	Intervertebral Disc Displacement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001800	"An INTERVERTEBRAL DISC in which the nucleus pulposus has protruded through surrounding fibrocartilage. This occurs most frequently in the lower lumbar region." []	4390070	\N	\N	EFO	6	EFO	experimental factor	Intervertebral Disc Displacement
EFO:1001801	\N	\N	"Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE." []	EFO:1001801	"Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE." []	71149	\N	\N	EFO	0	EFO	intracranial subdural hematoma	intracranial subdural hematoma
EFO:0003763	EFO:1001801	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1001801	"Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE." []	213699	\N	\N	EFO	1	EFO	cerebrovascular disorder	intracranial subdural hematoma
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001801	"Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE." []	567565	\N	\N	EFO	2	EFO	vascular disease	intracranial subdural hematoma
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001801	"Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE." []	1149012	\N	\N	EFO	3	EFO	cardiovascular disease	intracranial subdural hematoma
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001801	"Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE." []	2031239	\N	\N	EFO	4	EFO	disease	intracranial subdural hematoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001801	"Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE." []	3181843	\N	\N	EFO	5	EFO	disposition	intracranial subdural hematoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001801	"Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE." []	4390071	\N	\N	EFO	6	EFO	material property	intracranial subdural hematoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001801	"Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE." []	5409547	\N	\N	EFO	7	EFO	experimental factor	intracranial subdural hematoma
EFO:1001802	\N	\N	"Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." []	EFO:1001802	"Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." []	71150	\N	\N	EFO	0	EFO	isolated noncompaction of the ventricular myocardium	isolated noncompaction of the ventricular myocardium
EFO:0002945	EFO:1001802	\N	"" []	EFO:1001802	"Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." []	213700	\N	\N	EFO	1	EFO	familial cardiomyopathy	isolated noncompaction of the ventricular myocardium
EFO:0000318	EFO:0002945	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:1001802	"Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." []	567566	\N	\N	EFO	2	EFO	cardiomyopathy	isolated noncompaction of the ventricular myocardium
EFO:0000508	EFO:0002945	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001802	"Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." []	567567	\N	\N	EFO	2	EFO	genetic disorder	isolated noncompaction of the ventricular myocardium
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001802	"Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." []	1149013	\N	\N	EFO	3	EFO	heart disease	isolated noncompaction of the ventricular myocardium
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001802	"Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." []	1149014	\N	\N	EFO	3	EFO	disease	isolated noncompaction of the ventricular myocardium
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001802	"Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." []	2031240	\N	\N	EFO	4	EFO	cardiovascular disease	isolated noncompaction of the ventricular myocardium
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001802	"Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." []	4390072	\N	\N	EFO	6	EFO	disposition	isolated noncompaction of the ventricular myocardium
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001802	"Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." []	3181844	\N	\N	EFO	5	EFO	disease	isolated noncompaction of the ventricular myocardium
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001802	"Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." []	5059519	\N	\N	EFO	7	EFO	material property	isolated noncompaction of the ventricular myocardium
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001802	"Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." []	5876661	\N	\N	EFO	8	EFO	experimental factor	isolated noncompaction of the ventricular myocardium
EFO:1001803	\N	\N	"A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." []	EFO:1001803	"A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." []	71151	\N	\N	EFO	0	EFO	lingual thyroid	lingual thyroid
EFO:0000524	EFO:1001803	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001803	"A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." []	213701	\N	\N	EFO	1	EFO	head disease	lingual thyroid
EFO:1000627	EFO:1001803	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1001803	"A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." []	213702	\N	\N	EFO	1	EFO	thyroid disease	lingual thyroid
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001803	"A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." []	567568	\N	\N	EFO	2	EFO	disease	lingual thyroid
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001803	"A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." []	567569	\N	\N	EFO	2	EFO	endocrine system disease	lingual thyroid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001803	"A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." []	2031243	\N	\N	EFO	4	EFO	disposition	lingual thyroid
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001803	"A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." []	1149016	\N	\N	EFO	3	EFO	disease	lingual thyroid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001803	"A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." []	3000094	\N	\N	EFO	5	EFO	material property	lingual thyroid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001803	"A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." []	4133143	\N	\N	EFO	6	EFO	experimental factor	lingual thyroid
EFO:1001804	\N	\N	"A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." []	EFO:1001804	"A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." []	71152	\N	\N	EFO	0	EFO	Livedo reticularis	Livedo reticularis
EFO:0000701	EFO:1001804	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001804	"A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." []	213703	\N	\N	EFO	1	EFO	skin disease	Livedo reticularis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001804	"A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." []	567570	\N	\N	EFO	2	EFO	disease	Livedo reticularis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001804	"A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." []	1149017	\N	\N	EFO	3	EFO	disposition	Livedo reticularis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001804	"A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." []	2031244	\N	\N	EFO	4	EFO	material property	Livedo reticularis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001804	"A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." []	3181847	\N	\N	EFO	5	EFO	experimental factor	Livedo reticularis
EFO:1001805	\N	\N	"A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." []	EFO:1001805	"A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." []	71153	\N	\N	EFO	0	EFO	lobomycosis	lobomycosis
EFO:0005741	EFO:1001805	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001805	"A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." []	213704	\N	\N	EFO	1	EFO	infectious disease	lobomycosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001805	"A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." []	567571	\N	\N	EFO	2	EFO	disease	lobomycosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001805	"A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." []	1149018	\N	\N	EFO	3	EFO	disposition	lobomycosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001805	"A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." []	2031245	\N	\N	EFO	4	EFO	material property	lobomycosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001805	"A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." []	3181848	\N	\N	EFO	5	EFO	experimental factor	lobomycosis
EFO:1001806	\N	\N	"A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS." []	EFO:1001806	"A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS." []	71154	\N	\N	EFO	0	EFO	macrophage activation syndrome	macrophage activation syndrome
EFO:0000540	EFO:1001806	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001806	"A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS." []	213705	\N	\N	EFO	1	EFO	immune system disease	macrophage activation syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001806	"A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS." []	567572	\N	\N	EFO	2	EFO	disease	macrophage activation syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001806	"A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS." []	1149019	\N	\N	EFO	3	EFO	disposition	macrophage activation syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001806	"A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS." []	2031246	\N	\N	EFO	4	EFO	material property	macrophage activation syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001806	"A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS." []	3181849	\N	\N	EFO	5	EFO	experimental factor	macrophage activation syndrome
EFO:1001807	\N	\N	"The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract." []	EFO:1001807	"The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract." []	71155	\N	\N	EFO	0	EFO	malacoplakia	malacoplakia
EFO:0005140	EFO:1001807	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1001807	"The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract." []	213706	\N	\N	EFO	1	EFO	autoimmune disease	malacoplakia
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001807	"The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract." []	567573	\N	\N	EFO	2	EFO	immune system disease	malacoplakia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001807	"The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract." []	1149020	\N	\N	EFO	3	EFO	disease	malacoplakia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001807	"The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract." []	2031247	\N	\N	EFO	4	EFO	disposition	malacoplakia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001807	"The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract." []	3181850	\N	\N	EFO	5	EFO	material property	malacoplakia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001807	"The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract." []	4390074	\N	\N	EFO	6	EFO	experimental factor	malacoplakia
EFO:1001808	\N	\N	"Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" []	EFO:1001808	"Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" []	71156	\N	\N	EFO	0	EFO	manganese poisoning	manganese poisoning
EFO:1001815	EFO:1001808	\N	"Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries." []	EFO:1001808	"Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" []	213707	\N	\N	EFO	1	EFO	nervous system heavy metal poisoning	manganese poisoning
EFO:1001518	EFO:1001815	\N	"Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." []	EFO:1001808	"Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" []	567574	\N	\N	EFO	2	EFO	heavy metal poisoning	manganese poisoning
EFO:0000408	EFO:1001518	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001808	"Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" []	1149021	\N	\N	EFO	3	EFO	disease	manganese poisoning
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001808	"Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" []	2031248	\N	\N	EFO	4	EFO	disposition	manganese poisoning
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001808	"Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" []	3181851	\N	\N	EFO	5	EFO	material property	manganese poisoning
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001808	"Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" []	4390075	\N	\N	EFO	6	EFO	experimental factor	manganese poisoning
EFO:1001809	\N	\N	"A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well." []	EFO:1001809	"A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well." []	71157	\N	\N	EFO	0	EFO	Marchiafava-Bignami Disease	Marchiafava-Bignami Disease
EFO:0005772	EFO:1001809	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:1001809	"A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well." []	213708	\N	\N	EFO	1	EFO	neurodegenerative disease	Marchiafava-Bignami Disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001809	"A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well." []	567575	\N	\N	EFO	2	EFO	nervous system disease	Marchiafava-Bignami Disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001809	"A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well." []	1149022	\N	\N	EFO	3	EFO	disease	Marchiafava-Bignami Disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001809	"A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well." []	2031249	\N	\N	EFO	4	EFO	disposition	Marchiafava-Bignami Disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001809	"A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well." []	3181852	\N	\N	EFO	5	EFO	material property	Marchiafava-Bignami Disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001809	"A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well." []	4390076	\N	\N	EFO	6	EFO	experimental factor	Marchiafava-Bignami Disease
EFO:1001810	\N	\N	"Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)" []	EFO:1001810	"Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)" []	71158	\N	\N	EFO	0	EFO	mercury poisoning	mercury poisoning
EFO:1001815	EFO:1001810	\N	"Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries." []	EFO:1001810	"Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)" []	213709	\N	\N	EFO	1	EFO	nervous system heavy metal poisoning	mercury poisoning
EFO:1001518	EFO:1001815	\N	"Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." []	EFO:1001810	"Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)" []	567576	\N	\N	EFO	2	EFO	heavy metal poisoning	mercury poisoning
EFO:0000408	EFO:1001518	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001810	"Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)" []	1149023	\N	\N	EFO	3	EFO	disease	mercury poisoning
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001810	"Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)" []	2031250	\N	\N	EFO	4	EFO	disposition	mercury poisoning
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001810	"Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)" []	3181853	\N	\N	EFO	5	EFO	material property	mercury poisoning
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001810	"Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)" []	4390077	\N	\N	EFO	6	EFO	experimental factor	mercury poisoning
EFO:1001811	\N	\N	"Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." []	EFO:1001811	"Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." []	71159	\N	\N	EFO	0	EFO	Monteggia's fracture	Monteggia's fracture
EFO:0003950	EFO:1001811	\N	"Fractures of the larger bone of the forearm." []	EFO:1001811	"Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." []	213710	\N	\N	EFO	1	EFO	ulna fracture	Monteggia's fracture
EFO:0003931	EFO:0003950	\N	"Breaks in bones." []	EFO:1001811	"Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." []	567577	\N	\N	EFO	2	EFO	bone fracture	Monteggia's fracture
EFO:0004260	EFO:0003931	\N	"Diseases of BONES." []	EFO:1001811	"Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." []	1149024	\N	\N	EFO	3	EFO	bone disease	Monteggia's fracture
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001811	"Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." []	2031251	\N	\N	EFO	4	EFO	skeletal system disease	Monteggia's fracture
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001811	"Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." []	3181854	\N	\N	EFO	5	EFO	disease	Monteggia's fracture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001811	"Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." []	4390078	\N	\N	EFO	6	EFO	disposition	Monteggia's fracture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001811	"Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." []	5409548	\N	\N	EFO	7	EFO	material property	Monteggia's fracture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001811	"Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." []	6147686	\N	\N	EFO	8	EFO	experimental factor	Monteggia's fracture
EFO:1001812	\N	\N	"The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." []	EFO:1001812	"The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." []	71160	\N	\N	EFO	0	EFO	myringosclerosis	myringosclerosis
EFO:1001455	EFO:1001812	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	EFO:1001812	"The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." []	213711	\N	\N	EFO	1	EFO	auditory system disease	myringosclerosis
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	EFO:1001812	"The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." []	567578	\N	\N	EFO	2	EFO	sensory system disease	myringosclerosis
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001812	"The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." []	1149025	\N	\N	EFO	3	EFO	nervous system disease	myringosclerosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001812	"The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." []	2031252	\N	\N	EFO	4	EFO	disease	myringosclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001812	"The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." []	3181855	\N	\N	EFO	5	EFO	disposition	myringosclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001812	"The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." []	4390079	\N	\N	EFO	6	EFO	material property	myringosclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001812	"The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." []	5409549	\N	\N	EFO	7	EFO	experimental factor	myringosclerosis
EFO:1001813	\N	\N	"An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process." []	EFO:1001813	"An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process." []	71161	\N	\N	EFO	0	EFO	Nasal Septal Perforation	Nasal Septal Perforation
EFO:0000684	EFO:1001813	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001813	"An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process." []	213712	\N	\N	EFO	1	EFO	respiratory system disease	Nasal Septal Perforation
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001813	"An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process." []	567579	\N	\N	EFO	2	EFO	disease	Nasal Septal Perforation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001813	"An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process." []	1149026	\N	\N	EFO	3	EFO	disposition	Nasal Septal Perforation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001813	"An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process." []	2031253	\N	\N	EFO	4	EFO	material property	Nasal Septal Perforation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001813	"An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process." []	3181856	\N	\N	EFO	5	EFO	experimental factor	Nasal Septal Perforation
EFO:1001814	\N	\N	"A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents." []	EFO:1001814	"A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents." []	71162	\N	\N	EFO	0	EFO	nephrogenic fibrosing dermopathy	nephrogenic fibrosing dermopathy
EFO:0000701	EFO:1001814	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001814	"A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents." []	213713	\N	\N	EFO	1	EFO	skin disease	nephrogenic fibrosing dermopathy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001814	"A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents." []	567580	\N	\N	EFO	2	EFO	disease	nephrogenic fibrosing dermopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001814	"A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents." []	1149027	\N	\N	EFO	3	EFO	disposition	nephrogenic fibrosing dermopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001814	"A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents." []	2031254	\N	\N	EFO	4	EFO	material property	nephrogenic fibrosing dermopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001814	"A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents." []	3181857	\N	\N	EFO	5	EFO	experimental factor	nephrogenic fibrosing dermopathy
EFO:1001815	\N	\N	"Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries." []	EFO:1001815	"Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries." []	71163	\N	\N	EFO	0	EFO	nervous system heavy metal poisoning	nervous system heavy metal poisoning
EFO:1001518	EFO:1001815	\N	"Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints." []	EFO:1001815	"Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries." []	213714	\N	\N	EFO	1	EFO	heavy metal poisoning	nervous system heavy metal poisoning
EFO:0000408	EFO:1001518	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001815	"Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries." []	567581	\N	\N	EFO	2	EFO	disease	nervous system heavy metal poisoning
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001815	"Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries." []	1149028	\N	\N	EFO	3	EFO	disposition	nervous system heavy metal poisoning
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001815	"Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries." []	2031255	\N	\N	EFO	4	EFO	material property	nervous system heavy metal poisoning
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001815	"Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries." []	3181858	\N	\N	EFO	5	EFO	experimental factor	nervous system heavy metal poisoning
EFO:1001816	\N	\N	"A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST)." []	EFO:1001816	"A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST)." []	71164	\N	\N	EFO	0	EFO	neutropenic enterocolitis	neutropenic enterocolitis
EFO:1001481	EFO:1001816	\N	"Enterocolitis or coloenteritis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or  most frequently  by significant losses of water and minerals, the consequence of diarrhea and vomiting." []	EFO:1001816	"A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST)." []	213715	\N	\N	EFO	1	EFO	enterocolitis	neutropenic enterocolitis
EFO:0000405	EFO:1001481	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001816	"A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST)." []	567582	\N	\N	EFO	2	EFO	digestive system disease	neutropenic enterocolitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001816	"A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST)." []	1149029	\N	\N	EFO	3	EFO	disease	neutropenic enterocolitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001816	"A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST)." []	2031256	\N	\N	EFO	4	EFO	disposition	neutropenic enterocolitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001816	"A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST)." []	3181859	\N	\N	EFO	5	EFO	material property	neutropenic enterocolitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001816	"A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST)." []	4390080	\N	\N	EFO	6	EFO	experimental factor	neutropenic enterocolitis
EFO:1001817	\N	\N	"A breach in the continuity of the posterior chamber of the eyeball." []	EFO:1001817	"A breach in the continuity of the posterior chamber of the eyeball." []	71165	\N	\N	EFO	0	EFO	ocular posterior capsular rupture	ocular posterior capsular rupture
EFO:0003966	EFO:1001817	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001817	"A breach in the continuity of the posterior chamber of the eyeball." []	213716	\N	\N	EFO	1	EFO	eye disease	ocular posterior capsular rupture
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001817	"A breach in the continuity of the posterior chamber of the eyeball." []	567583	\N	\N	EFO	2	EFO	disease	ocular posterior capsular rupture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001817	"A breach in the continuity of the posterior chamber of the eyeball." []	1149030	\N	\N	EFO	3	EFO	disposition	ocular posterior capsular rupture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001817	"A breach in the continuity of the posterior chamber of the eyeball." []	2031257	\N	\N	EFO	4	EFO	material property	ocular posterior capsular rupture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001817	"A breach in the continuity of the posterior chamber of the eyeball." []	3181860	\N	\N	EFO	5	EFO	experimental factor	ocular posterior capsular rupture
EFO:1001818	\N	\N	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	EFO:1001818	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	71166	\N	\N	EFO	0	EFO	oral submucous fibrosis	oral submucous fibrosis
EFO:0005570	EFO:1001818	\N	"A gastrointestinal system cancer that is located_in the oral cavity." []	EFO:1001818	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	213717	\N	\N	EFO	1	EFO	oral cavity cancer	oral submucous fibrosis
EFO:0000311	EFO:0005570	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001818	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	567584	\N	\N	EFO	2	EFO	cancer	oral submucous fibrosis
EFO:0005950	EFO:0005570	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1001818	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	567585	\N	\N	EFO	2	EFO	head and neck neoplasia	oral submucous fibrosis
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001818	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	1149031	\N	\N	EFO	3	EFO	neoplasm	oral submucous fibrosis
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001818	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	1149032	\N	\N	EFO	3	EFO	head disease	oral submucous fibrosis
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001818	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	1149033	\N	\N	EFO	3	EFO	neoplasm	oral submucous fibrosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001818	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	2031258	\N	\N	EFO	4	EFO	disease	oral submucous fibrosis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001818	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	2031259	\N	\N	EFO	4	EFO	disease	oral submucous fibrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001818	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	3181861	\N	\N	EFO	5	EFO	disposition	oral submucous fibrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001818	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	4390081	\N	\N	EFO	6	EFO	material property	oral submucous fibrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001818	"a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues)." []	5409550	\N	\N	EFO	7	EFO	experimental factor	oral submucous fibrosis
EFO:1001819	\N	\N	"Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." []	EFO:1001819	"Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." []	71167	\N	\N	EFO	0	EFO	orbital myositis	orbital myositis
EFO:0000783	EFO:1001819	\N	"Inflammation of a muscle or muscle tissue." []	EFO:1001819	"Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." []	213718	\N	\N	EFO	1	EFO	myositis	orbital myositis
EFO:0003966	EFO:1001819	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001819	"Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." []	213719	\N	\N	EFO	1	EFO	eye disease	orbital myositis
EFO:0000540	EFO:0000783	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001819	"Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." []	567586	\N	\N	EFO	2	EFO	immune system disease	orbital myositis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001819	"Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." []	567587	\N	\N	EFO	2	EFO	disease	orbital myositis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001819	"Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." []	1149034	\N	\N	EFO	3	EFO	disease	orbital myositis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001819	"Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." []	2031260	\N	\N	EFO	4	EFO	disposition	orbital myositis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001819	"Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." []	3000095	\N	\N	EFO	5	EFO	material property	orbital myositis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001819	"Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." []	4133144	\N	\N	EFO	6	EFO	experimental factor	orbital myositis
EFO:1001820	\N	\N	"A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease." []	EFO:1001820	"A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease." []	71168	\N	\N	EFO	0	EFO	oroficial granulomatosis	oroficial granulomatosis
EFO:0005140	EFO:1001820	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1001820	"A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease." []	213720	\N	\N	EFO	1	EFO	autoimmune disease	oroficial granulomatosis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001820	"A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease." []	567588	\N	\N	EFO	2	EFO	immune system disease	oroficial granulomatosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001820	"A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease." []	1149036	\N	\N	EFO	3	EFO	disease	oroficial granulomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001820	"A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease." []	2031262	\N	\N	EFO	4	EFO	disposition	oroficial granulomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001820	"A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease." []	3181863	\N	\N	EFO	5	EFO	material property	oroficial granulomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001820	"A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease." []	4390082	\N	\N	EFO	6	EFO	experimental factor	oroficial granulomatosis
EFO:1001821	\N	\N	"Necrosis of bone following radiation injury." []	EFO:1001821	"Necrosis of bone following radiation injury." []	71169	\N	\N	EFO	0	EFO	osteoradionecrosis	osteoradionecrosis
EFO:0004260	EFO:1001821	\N	"Diseases of BONES." []	EFO:1001821	"Necrosis of bone following radiation injury." []	213721	\N	\N	EFO	1	EFO	bone disease	osteoradionecrosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001821	"Necrosis of bone following radiation injury." []	567589	\N	\N	EFO	2	EFO	skeletal system disease	osteoradionecrosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001821	"Necrosis of bone following radiation injury." []	1149037	\N	\N	EFO	3	EFO	disease	osteoradionecrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001821	"Necrosis of bone following radiation injury." []	2031263	\N	\N	EFO	4	EFO	disposition	osteoradionecrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001821	"Necrosis of bone following radiation injury." []	3181864	\N	\N	EFO	5	EFO	material property	osteoradionecrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001821	"Necrosis of bone following radiation injury." []	4390083	\N	\N	EFO	6	EFO	experimental factor	osteoradionecrosis
EFO:1001822	\N	\N	"A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS)." []	EFO:1001822	"A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS)." []	71170	\N	\N	EFO	0	EFO	Paroxysmal Hemicrania	Paroxysmal Hemicrania
EFO:0000524	EFO:1001822	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001822	"A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS)." []	213722	\N	\N	EFO	1	EFO	head disease	Paroxysmal Hemicrania
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001822	"A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS)." []	567590	\N	\N	EFO	2	EFO	disease	Paroxysmal Hemicrania
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001822	"A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS)." []	1149038	\N	\N	EFO	3	EFO	disposition	Paroxysmal Hemicrania
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001822	"A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS)." []	2031264	\N	\N	EFO	4	EFO	material property	Paroxysmal Hemicrania
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001822	"A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS)." []	3181865	\N	\N	EFO	5	EFO	experimental factor	Paroxysmal Hemicrania
EFO:1001823	\N	\N	"Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively." []	EFO:1001823	"Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively." []	71171	\N	\N	EFO	0	EFO	Periprosthetic Fractures	Periprosthetic Fractures
EFO:0003931	EFO:1001823	\N	"Breaks in bones." []	EFO:1001823	"Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively." []	213723	\N	\N	EFO	1	EFO	bone fracture	Periprosthetic Fractures
EFO:0004260	EFO:0003931	\N	"Diseases of BONES." []	EFO:1001823	"Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively." []	567591	\N	\N	EFO	2	EFO	bone disease	Periprosthetic Fractures
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001823	"Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively." []	1149039	\N	\N	EFO	3	EFO	skeletal system disease	Periprosthetic Fractures
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001823	"Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively." []	2031265	\N	\N	EFO	4	EFO	disease	Periprosthetic Fractures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001823	"Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively." []	3181866	\N	\N	EFO	5	EFO	disposition	Periprosthetic Fractures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001823	"Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively." []	4390084	\N	\N	EFO	6	EFO	material property	Periprosthetic Fractures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001823	"Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively." []	5409551	\N	\N	EFO	7	EFO	experimental factor	Periprosthetic Fractures
EFO:1001824	\N	\N	"A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS." []	EFO:1001824	"A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS." []	71172	\N	\N	EFO	0	EFO	pinguecula	pinguecula
EFO:1000203	EFO:1001824	\N	"Any disorder of the conjunctiva. " []	EFO:1001824	"A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS." []	213724	\N	\N	EFO	1	EFO	Conjunctival Disorder	pinguecula
EFO:0003966	EFO:1000203	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001824	"A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS." []	567592	\N	\N	EFO	2	EFO	eye disease	pinguecula
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001824	"A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS." []	1149040	\N	\N	EFO	3	EFO	disease	pinguecula
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001824	"A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS." []	2031266	\N	\N	EFO	4	EFO	disposition	pinguecula
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001824	"A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS." []	3181867	\N	\N	EFO	5	EFO	material property	pinguecula
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001824	"A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS." []	4390085	\N	\N	EFO	6	EFO	experimental factor	pinguecula
EFO:1001825	\N	\N	"INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN." []	EFO:1001825	"INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN." []	71173	\N	\N	EFO	0	EFO	pleurisy	pleurisy
EFO:0003818	EFO:1001825	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001825	"INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN." []	213725	\N	\N	EFO	1	EFO	lung disease	pleurisy
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001825	"INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN." []	567593	\N	\N	EFO	2	EFO	respiratory system disease	pleurisy
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001825	"INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN." []	1149041	\N	\N	EFO	3	EFO	disease	pleurisy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001825	"INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN." []	2031267	\N	\N	EFO	4	EFO	disposition	pleurisy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001825	"INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN." []	3181868	\N	\N	EFO	5	EFO	material property	pleurisy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001825	"INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN." []	4390086	\N	\N	EFO	6	EFO	experimental factor	pleurisy
EFO:1001826	\N	\N	"A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." []	EFO:1001826	"A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." []	71174	\N	\N	EFO	0	EFO	Poroma	Poroma
EFO:0004198	EFO:1001826	\N	"Tumors or cancer of the SKIN." []	EFO:1001826	"A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." []	213726	\N	\N	EFO	1	EFO	skin neoplasm	Poroma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001826	"A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." []	567594	\N	\N	EFO	2	EFO	neoplasm	Poroma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001826	"A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." []	567595	\N	\N	EFO	2	EFO	skin disease	Poroma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001826	"A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." []	1149042	\N	\N	EFO	3	EFO	disease	Poroma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001826	"A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." []	1149043	\N	\N	EFO	3	EFO	disease	Poroma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001826	"A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." []	2031268	\N	\N	EFO	4	EFO	disposition	Poroma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001826	"A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." []	3181869	\N	\N	EFO	5	EFO	material property	Poroma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001826	"A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." []	4390087	\N	\N	EFO	6	EFO	experimental factor	Poroma
EFO:1001827	\N	\N	"The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging." []	EFO:1001827	"The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging." []	71175	\N	\N	EFO	0	EFO	post-concussion syndrome	post-concussion syndrome
EFO:0000677	EFO:1001827	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001827	"The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging." []	213727	\N	\N	EFO	1	EFO	mental or behavioural disorder	post-concussion syndrome
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001827	"The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging." []	567596	\N	\N	EFO	2	EFO	brain disease	post-concussion syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001827	"The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging." []	1149044	\N	\N	EFO	3	EFO	nervous system disease	post-concussion syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001827	"The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging." []	2031269	\N	\N	EFO	4	EFO	disease	post-concussion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001827	"The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging." []	3181870	\N	\N	EFO	5	EFO	disposition	post-concussion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001827	"The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging." []	4390088	\N	\N	EFO	6	EFO	material property	post-concussion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001827	"The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging." []	5409552	\N	\N	EFO	7	EFO	experimental factor	post-concussion syndrome
EFO:1001828	\N	\N	"Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION." []	EFO:1001828	"Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION." []	71176	\N	\N	EFO	0	EFO	post-exercise hypotension	post-exercise hypotension
EFO:0005251	EFO:1001828	\N	"Blood pressure that is abnormally low." []	EFO:1001828	"Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION." []	213728	\N	\N	EFO	1	EFO	hypotension	post-exercise hypotension
EFO:0000319	EFO:0005251	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001828	"Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION." []	567597	\N	\N	EFO	2	EFO	cardiovascular disease	post-exercise hypotension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001828	"Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION." []	1149045	\N	\N	EFO	3	EFO	disease	post-exercise hypotension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001828	"Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION." []	2031270	\N	\N	EFO	4	EFO	disposition	post-exercise hypotension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001828	"Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION." []	3181871	\N	\N	EFO	5	EFO	material property	post-exercise hypotension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001828	"Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION." []	4390089	\N	\N	EFO	6	EFO	experimental factor	post-exercise hypotension
EFO:1001829	\N	\N	"A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies)." []	EFO:1001829	"A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies)." []	71177	\N	\N	EFO	0	EFO	Posterior Leukoencephalopathy Syndrome	Posterior Leukoencephalopathy Syndrome
EFO:0000618	EFO:1001829	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001829	"A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies)." []	213729	\N	\N	EFO	1	EFO	nervous system disease	Posterior Leukoencephalopathy Syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001829	"A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies)." []	567598	\N	\N	EFO	2	EFO	disease	Posterior Leukoencephalopathy Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001829	"A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies)." []	1149046	\N	\N	EFO	3	EFO	disposition	Posterior Leukoencephalopathy Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001829	"A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies)." []	2031271	\N	\N	EFO	4	EFO	material property	Posterior Leukoencephalopathy Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001829	"A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies)." []	3181872	\N	\N	EFO	5	EFO	experimental factor	Posterior Leukoencephalopathy Syndrome
EFO:1001830	\N	\N	"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common." []	EFO:1001830	"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common." []	71178	\N	\N	EFO	0	EFO	precursor T-cell lymphoblastic leukemia-lymphoma	precursor T-cell lymphoblastic leukemia-lymphoma
EFO:0000574	EFO:1001830	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1001830	"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common." []	213730	\N	\N	EFO	1	EFO	lymphoma	precursor T-cell lymphoblastic leukemia-lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001830	"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common." []	567599	\N	\N	EFO	2	EFO	lymphoid neoplasm	precursor T-cell lymphoblastic leukemia-lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001830	"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common." []	1149047	\N	\N	EFO	3	EFO	cancer	precursor T-cell lymphoblastic leukemia-lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001830	"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common." []	1149048	\N	\N	EFO	3	EFO	hematological system disease	precursor T-cell lymphoblastic leukemia-lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001830	"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common." []	2031272	\N	\N	EFO	4	EFO	neoplasm	precursor T-cell lymphoblastic leukemia-lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001830	"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common." []	2031273	\N	\N	EFO	4	EFO	disease	precursor T-cell lymphoblastic leukemia-lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001830	"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common." []	3181873	\N	\N	EFO	5	EFO	disease	precursor T-cell lymphoblastic leukemia-lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001830	"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common." []	4390090	\N	\N	EFO	6	EFO	disposition	precursor T-cell lymphoblastic leukemia-lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001830	"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common." []	5181374	\N	\N	EFO	7	EFO	material property	precursor T-cell lymphoblastic leukemia-lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001830	"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common." []	5996781	\N	\N	EFO	8	EFO	experimental factor	precursor T-cell lymphoblastic leukemia-lymphoma
EFO:1001831	\N	\N	"A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" []	EFO:1001831	"A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" []	71179	\N	\N	EFO	0	EFO	pseudolymphoma	pseudolymphoma
EFO:0000574	EFO:1001831	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1001831	"A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" []	213731	\N	\N	EFO	1	EFO	lymphoma	pseudolymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001831	"A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" []	567600	\N	\N	EFO	2	EFO	lymphoid neoplasm	pseudolymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001831	"A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" []	1149049	\N	\N	EFO	3	EFO	cancer	pseudolymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001831	"A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" []	1149050	\N	\N	EFO	3	EFO	hematological system disease	pseudolymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001831	"A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" []	2031274	\N	\N	EFO	4	EFO	neoplasm	pseudolymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001831	"A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" []	2031275	\N	\N	EFO	4	EFO	disease	pseudolymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001831	"A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" []	3181875	\N	\N	EFO	5	EFO	disease	pseudolymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001831	"A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" []	4390092	\N	\N	EFO	6	EFO	disposition	pseudolymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001831	"A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" []	5181375	\N	\N	EFO	7	EFO	material property	pseudolymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001831	"A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" []	5996782	\N	\N	EFO	8	EFO	experimental factor	pseudolymphoma
EFO:1001832	\N	\N	"Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." []	EFO:1001832	"Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." []	71180	\N	\N	EFO	0	EFO	Psoas abscess	Psoas abscess
EFO:0003030	EFO:1001832	\N	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	EFO:1001832	"Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." []	213732	\N	\N	EFO	1	EFO	abscess	Psoas abscess
EFO:0000771	EFO:0003030	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001832	"Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." []	567601	\N	\N	EFO	2	EFO	bacterial disease	Psoas abscess
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001832	"Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." []	1149051	\N	\N	EFO	3	EFO	infectious disease	Psoas abscess
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001832	"Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." []	2031276	\N	\N	EFO	4	EFO	disease	Psoas abscess
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001832	"Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." []	3181877	\N	\N	EFO	5	EFO	disposition	Psoas abscess
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001832	"Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." []	4390094	\N	\N	EFO	6	EFO	material property	Psoas abscess
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001832	"Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." []	5409555	\N	\N	EFO	7	EFO	experimental factor	Psoas abscess
EFO:1001833	\N	\N	"Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." []	EFO:1001833	"Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." []	71181	\N	\N	EFO	0	EFO	Pubic Symphysis Diastasis	Pubic Symphysis Diastasis
EFO:0000512	EFO:1001833	\N	"any diease of the reproductive system" []	EFO:1001833	"Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." []	213733	\N	\N	EFO	1	EFO	reproductive system disease	Pubic Symphysis Diastasis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001833	"Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." []	567602	\N	\N	EFO	2	EFO	disease	Pubic Symphysis Diastasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001833	"Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." []	1149052	\N	\N	EFO	3	EFO	disposition	Pubic Symphysis Diastasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001833	"Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." []	2031277	\N	\N	EFO	4	EFO	material property	Pubic Symphysis Diastasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001833	"Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." []	3181878	\N	\N	EFO	5	EFO	experimental factor	Pubic Symphysis Diastasis
EFO:1001834	\N	\N	"Infections of the respiratory tract with fungi of the genus ASPERGILLUS. Infections may result in allergic reaction (ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS), colonization in pulmonary cavities as fungus balls (MYCETOMA), or lead to invasion of the lung parenchyma (INVASIVE PULMONARY ASPERGILLOSIS)." []	EFO:1001834	"Infections of the respiratory tract with fungi of the genus ASPERGILLUS. Infections may result in allergic reaction (ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS), colonization in pulmonary cavities as fungus balls (MYCETOMA), or lead to invasion of the lung parenchyma (INVASIVE PULMONARY ASPERGILLOSIS)." []	71182	\N	\N	EFO	0	EFO	pulmonary aspergillosis	pulmonary aspergillosis
EFO:0000684	EFO:1001834	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001834	"Infections of the respiratory tract with fungi of the genus ASPERGILLUS. Infections may result in allergic reaction (ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS), colonization in pulmonary cavities as fungus balls (MYCETOMA), or lead to invasion of the lung parenchyma (INVASIVE PULMONARY ASPERGILLOSIS)." []	213734	\N	\N	EFO	1	EFO	respiratory system disease	pulmonary aspergillosis
EFO:0007157	EFO:1001834	\N	"An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system." []	EFO:1001834	"Infections of the respiratory tract with fungi of the genus ASPERGILLUS. Infections may result in allergic reaction (ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS), colonization in pulmonary cavities as fungus balls (MYCETOMA), or lead to invasion of the lung parenchyma (INVASIVE PULMONARY ASPERGILLOSIS)." []	213735	\N	\N	EFO	1	EFO	aspergillosis	pulmonary aspergillosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001834	"Infections of the respiratory tract with fungi of the genus ASPERGILLUS. Infections may result in allergic reaction (ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS), colonization in pulmonary cavities as fungus balls (MYCETOMA), or lead to invasion of the lung parenchyma (INVASIVE PULMONARY ASPERGILLOSIS)." []	567603	\N	\N	EFO	2	EFO	disease	pulmonary aspergillosis
EFO:0000540	EFO:0007157	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001834	"Infections of the respiratory tract with fungi of the genus ASPERGILLUS. Infections may result in allergic reaction (ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS), colonization in pulmonary cavities as fungus balls (MYCETOMA), or lead to invasion of the lung parenchyma (INVASIVE PULMONARY ASPERGILLOSIS)." []	567604	\N	\N	EFO	2	EFO	immune system disease	pulmonary aspergillosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001834	"Infections of the respiratory tract with fungi of the genus ASPERGILLUS. Infections may result in allergic reaction (ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS), colonization in pulmonary cavities as fungus balls (MYCETOMA), or lead to invasion of the lung parenchyma (INVASIVE PULMONARY ASPERGILLOSIS)." []	2031279	\N	\N	EFO	4	EFO	disposition	pulmonary aspergillosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001834	"Infections of the respiratory tract with fungi of the genus ASPERGILLUS. Infections may result in allergic reaction (ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS), colonization in pulmonary cavities as fungus balls (MYCETOMA), or lead to invasion of the lung parenchyma (INVASIVE PULMONARY ASPERGILLOSIS)." []	1149054	\N	\N	EFO	3	EFO	disease	pulmonary aspergillosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001834	"Infections of the respiratory tract with fungi of the genus ASPERGILLUS. Infections may result in allergic reaction (ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS), colonization in pulmonary cavities as fungus balls (MYCETOMA), or lead to invasion of the lung parenchyma (INVASIVE PULMONARY ASPERGILLOSIS)." []	3000096	\N	\N	EFO	5	EFO	material property	pulmonary aspergillosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001834	"Infections of the respiratory tract with fungi of the genus ASPERGILLUS. Infections may result in allergic reaction (ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS), colonization in pulmonary cavities as fungus balls (MYCETOMA), or lead to invasion of the lung parenchyma (INVASIVE PULMONARY ASPERGILLOSIS)." []	4133145	\N	\N	EFO	6	EFO	experimental factor	pulmonary aspergillosis
EFO:1001835	\N	\N	"Inflammation of the KIDNEY PELVIS and the URINARY BLADDER." []	EFO:1001835	"Inflammation of the KIDNEY PELVIS and the URINARY BLADDER." []	71183	\N	\N	EFO	0	EFO	pyelocystitis	pyelocystitis
EFO:1000025	EFO:1001835	\N	"An acute or chronic inflammatory process affecting the bladder." []	EFO:1001835	"Inflammation of the KIDNEY PELVIS and the URINARY BLADDER." []	213736	\N	\N	EFO	1	EFO	cystitis	pyelocystitis
EFO:1000018	EFO:1000025	\N	"A disorder affecting the urinary bladder" []	EFO:1001835	"Inflammation of the KIDNEY PELVIS and the URINARY BLADDER." []	567605	\N	\N	EFO	2	EFO	bladder disease	pyelocystitis
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001835	"Inflammation of the KIDNEY PELVIS and the URINARY BLADDER." []	1149055	\N	\N	EFO	3	EFO	disease	pyelocystitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001835	"Inflammation of the KIDNEY PELVIS and the URINARY BLADDER." []	2031280	\N	\N	EFO	4	EFO	disposition	pyelocystitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001835	"Inflammation of the KIDNEY PELVIS and the URINARY BLADDER." []	3181880	\N	\N	EFO	5	EFO	material property	pyelocystitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001835	"Inflammation of the KIDNEY PELVIS and the URINARY BLADDER." []	4390095	\N	\N	EFO	6	EFO	experimental factor	pyelocystitis
EFO:1001836	\N	\N	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	71184	\N	\N	EFO	0	EFO	pyogenic liver abscess	pyogenic liver abscess
EFO:0001421	EFO:1001836	\N	"Pathological processes of the LIVER." []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	213737	\N	\N	EFO	1	EFO	liver disease	pyogenic liver abscess
EFO:0003030	EFO:1001836	\N	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	213738	\N	\N	EFO	1	EFO	abscess	pyogenic liver abscess
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	567606	\N	\N	EFO	2	EFO	digestive system disease	pyogenic liver abscess
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	567607	\N	\N	EFO	2	EFO	endocrine system disease	pyogenic liver abscess
EFO:0000771	EFO:0003030	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	567608	\N	\N	EFO	2	EFO	bacterial disease	pyogenic liver abscess
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	1149056	\N	\N	EFO	3	EFO	disease	pyogenic liver abscess
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	1149057	\N	\N	EFO	3	EFO	disease	pyogenic liver abscess
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	1149058	\N	\N	EFO	3	EFO	infectious disease	pyogenic liver abscess
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	3181882	\N	\N	EFO	5	EFO	disposition	pyogenic liver abscess
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	2031282	\N	\N	EFO	4	EFO	disease	pyogenic liver abscess
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	4133146	\N	\N	EFO	6	EFO	material property	pyogenic liver abscess
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001836	"Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." []	5181376	\N	\N	EFO	7	EFO	experimental factor	pyogenic liver abscess
EFO:1001837	\N	\N	"Herniation of the RECTUM into the VAGINA." []	EFO:1001837	"Herniation of the RECTUM into the VAGINA." []	71185	\N	\N	EFO	0	EFO	rectocele	rectocele
EFO:0000512	EFO:1001837	\N	"any diease of the reproductive system" []	EFO:1001837	"Herniation of the RECTUM into the VAGINA." []	213739	\N	\N	EFO	1	EFO	reproductive system disease	rectocele
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001837	"Herniation of the RECTUM into the VAGINA." []	567609	\N	\N	EFO	2	EFO	disease	rectocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001837	"Herniation of the RECTUM into the VAGINA." []	1149059	\N	\N	EFO	3	EFO	disposition	rectocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001837	"Herniation of the RECTUM into the VAGINA." []	2031283	\N	\N	EFO	4	EFO	material property	rectocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001837	"Herniation of the RECTUM into the VAGINA." []	3181883	\N	\N	EFO	5	EFO	experimental factor	rectocele
EFO:1001838	\N	\N	"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed between the aorta, abdominal and superior mesenteric artery. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), renovascular hypertension, varicose veins, orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome." []	EFO:1001838	"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed between the aorta, abdominal and superior mesenteric artery. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), renovascular hypertension, varicose veins, orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome." []	71186	\N	\N	EFO	0	EFO	renal nutcracker syndrome	renal nutcracker syndrome
EFO:0003086	EFO:1001838	\N	"A disease affecting the kidneys" []	EFO:1001838	"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed between the aorta, abdominal and superior mesenteric artery. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), renovascular hypertension, varicose veins, orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome." []	213740	\N	\N	EFO	1	EFO	kidney disease	renal nutcracker syndrome
EFO:0004264	EFO:1001838	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001838	"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed between the aorta, abdominal and superior mesenteric artery. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), renovascular hypertension, varicose veins, orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome." []	213741	\N	\N	EFO	1	EFO	vascular disease	renal nutcracker syndrome
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001838	"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed between the aorta, abdominal and superior mesenteric artery. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), renovascular hypertension, varicose veins, orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome." []	567610	\N	\N	EFO	2	EFO	disease	renal nutcracker syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001838	"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed between the aorta, abdominal and superior mesenteric artery. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), renovascular hypertension, varicose veins, orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome." []	567611	\N	\N	EFO	2	EFO	cardiovascular disease	renal nutcracker syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001838	"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed between the aorta, abdominal and superior mesenteric artery. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), renovascular hypertension, varicose veins, orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome." []	2031285	\N	\N	EFO	4	EFO	disposition	renal nutcracker syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001838	"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed between the aorta, abdominal and superior mesenteric artery. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), renovascular hypertension, varicose veins, orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome." []	1149061	\N	\N	EFO	3	EFO	disease	renal nutcracker syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001838	"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed between the aorta, abdominal and superior mesenteric artery. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), renovascular hypertension, varicose veins, orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome." []	3000097	\N	\N	EFO	5	EFO	material property	renal nutcracker syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001838	"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed between the aorta, abdominal and superior mesenteric artery. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), renovascular hypertension, varicose veins, orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome." []	4133147	\N	\N	EFO	6	EFO	experimental factor	renal nutcracker syndrome
EFO:1001839	\N	\N	"Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA." []	EFO:1001839	"Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA." []	71187	\N	\N	EFO	0	EFO	respiratory aspiration	respiratory aspiration
EFO:0000684	EFO:1001839	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001839	"Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA." []	213742	\N	\N	EFO	1	EFO	respiratory system disease	respiratory aspiration
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001839	"Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA." []	567612	\N	\N	EFO	2	EFO	disease	respiratory aspiration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001839	"Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA." []	1149062	\N	\N	EFO	3	EFO	disposition	respiratory aspiration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001839	"Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA." []	2031286	\N	\N	EFO	4	EFO	material property	respiratory aspiration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001839	"Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA." []	3181885	\N	\N	EFO	5	EFO	experimental factor	respiratory aspiration
EFO:1001840	\N	\N	"Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders." []	EFO:1001840	"Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders." []	71188	\N	\N	EFO	0	EFO	respiratory paralysis	respiratory paralysis
EFO:0000618	EFO:1001840	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001840	"Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders." []	213743	\N	\N	EFO	1	EFO	nervous system disease	respiratory paralysis
EFO:0000684	EFO:1001840	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001840	"Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders." []	213744	\N	\N	EFO	1	EFO	respiratory system disease	respiratory paralysis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001840	"Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders." []	567613	\N	\N	EFO	2	EFO	disease	respiratory paralysis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001840	"Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders." []	567614	\N	\N	EFO	2	EFO	disease	respiratory paralysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001840	"Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders." []	1149063	\N	\N	EFO	3	EFO	disposition	respiratory paralysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001840	"Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders." []	2031287	\N	\N	EFO	4	EFO	material property	respiratory paralysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001840	"Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders." []	3181886	\N	\N	EFO	5	EFO	experimental factor	respiratory paralysis
EFO:1001841	\N	\N	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	EFO:1001841	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	71189	\N	\N	EFO	0	EFO	sebaceous of Jadassohn nevus	sebaceous of Jadassohn nevus
EFO:0000625	EFO:1001841	\N	"Nevus (or naevus, plural nevi or naevi, from nvus, Latin for \\"birthmark\\") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the \\"melanocytic nevus\\", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack." []	EFO:1001841	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	213745	\N	\N	EFO	1	EFO	nevus	sebaceous of Jadassohn nevus
EFO:0002422	EFO:0000625	\N	"A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." []	EFO:1001841	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	567615	\N	\N	EFO	2	EFO	benign neoplasm	sebaceous of Jadassohn nevus
EFO:0004198	EFO:0000625	\N	"Tumors or cancer of the SKIN." []	EFO:1001841	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	567616	\N	\N	EFO	2	EFO	skin neoplasm	sebaceous of Jadassohn nevus
EFO:0000616	EFO:0002422	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001841	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	1149064	\N	\N	EFO	3	EFO	neoplasm	sebaceous of Jadassohn nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001841	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	1149065	\N	\N	EFO	3	EFO	neoplasm	sebaceous of Jadassohn nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001841	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	1149066	\N	\N	EFO	3	EFO	skin disease	sebaceous of Jadassohn nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001841	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	2031288	\N	\N	EFO	4	EFO	disease	sebaceous of Jadassohn nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001841	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	2031289	\N	\N	EFO	4	EFO	disease	sebaceous of Jadassohn nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001841	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	3181887	\N	\N	EFO	5	EFO	disposition	sebaceous of Jadassohn nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001841	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	4390097	\N	\N	EFO	6	EFO	material property	sebaceous of Jadassohn nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001841	"A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." []	5409556	\N	\N	EFO	7	EFO	experimental factor	sebaceous of Jadassohn nevus
EFO:1001842	\N	\N	"An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor." []	EFO:1001842	"An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor." []	71190	\N	\N	EFO	0	EFO	Serotonin Syndrome	Serotonin Syndrome
EFO:0000618	EFO:1001842	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001842	"An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor." []	213746	\N	\N	EFO	1	EFO	nervous system disease	Serotonin Syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001842	"An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor." []	567617	\N	\N	EFO	2	EFO	disease	Serotonin Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001842	"An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor." []	1149067	\N	\N	EFO	3	EFO	disposition	Serotonin Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001842	"An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor." []	2031290	\N	\N	EFO	4	EFO	material property	Serotonin Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001842	"An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor." []	3181888	\N	\N	EFO	5	EFO	experimental factor	Serotonin Syndrome
EFO:1001843	\N	\N	"Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval." []	EFO:1001843	"Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval." []	71191	\N	\N	EFO	0	EFO	sinoatrial nodal reentry tachycardia	sinoatrial nodal reentry tachycardia
EFO:0004269	EFO:1001843	\N	"Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." []	EFO:1001843	"Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval." []	213747	\N	\N	EFO	1	EFO	cardiac arrhythmia	sinoatrial nodal reentry tachycardia
EFO:0003777	EFO:0004269	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1001843	"Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval." []	567618	\N	\N	EFO	2	EFO	heart disease	sinoatrial nodal reentry tachycardia
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001843	"Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval." []	1149068	\N	\N	EFO	3	EFO	cardiovascular disease	sinoatrial nodal reentry tachycardia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001843	"Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval." []	2031291	\N	\N	EFO	4	EFO	disease	sinoatrial nodal reentry tachycardia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001843	"Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval." []	3181889	\N	\N	EFO	5	EFO	disposition	sinoatrial nodal reentry tachycardia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001843	"Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval." []	4390098	\N	\N	EFO	6	EFO	material property	sinoatrial nodal reentry tachycardia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001843	"Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval." []	5409557	\N	\N	EFO	7	EFO	experimental factor	sinoatrial nodal reentry tachycardia
EFO:1001844	\N	\N	"A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." []	EFO:1001844	"A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." []	71192	\N	\N	EFO	0	EFO	skin mastocytoma	skin mastocytoma
EFO:1000886	EFO:1001844	\N	"Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." []	EFO:1001844	"A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." []	213748	\N	\N	EFO	1	EFO	cutaneous mastocytosis	skin mastocytoma
EFO:0004198	EFO:1000886	\N	"Tumors or cancer of the SKIN." []	EFO:1001844	"A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." []	567619	\N	\N	EFO	2	EFO	skin neoplasm	skin mastocytoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001844	"A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." []	1149069	\N	\N	EFO	3	EFO	neoplasm	skin mastocytoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001844	"A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." []	1149070	\N	\N	EFO	3	EFO	skin disease	skin mastocytoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001844	"A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." []	2031292	\N	\N	EFO	4	EFO	disease	skin mastocytoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001844	"A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." []	2031293	\N	\N	EFO	4	EFO	disease	skin mastocytoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001844	"A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." []	3181890	\N	\N	EFO	5	EFO	disposition	skin mastocytoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001844	"A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." []	4390099	\N	\N	EFO	6	EFO	material property	skin mastocytoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001844	"A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." []	5409558	\N	\N	EFO	7	EFO	experimental factor	skin mastocytoma
EFO:1001845	\N	\N	"Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence." []	EFO:1001845	"Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence." []	71193	\N	\N	EFO	0	EFO	spinal cord compression	spinal cord compression
EFO:0000618	EFO:1001845	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001845	"Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence." []	213749	\N	\N	EFO	1	EFO	nervous system disease	spinal cord compression
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001845	"Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence." []	567620	\N	\N	EFO	2	EFO	disease	spinal cord compression
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001845	"Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence." []	1149071	\N	\N	EFO	3	EFO	disposition	spinal cord compression
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001845	"Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence." []	2031294	\N	\N	EFO	4	EFO	material property	spinal cord compression
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001845	"Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence." []	3181891	\N	\N	EFO	5	EFO	experimental factor	spinal cord compression
EFO:1001846	\N	\N	"Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS." []	EFO:1001846	"Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS." []	71194	\N	\N	EFO	0	EFO	Spinal Osteophytosis	Spinal Osteophytosis
EFO:0004260	EFO:1001846	\N	"Diseases of BONES." []	EFO:1001846	"Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS." []	213750	\N	\N	EFO	1	EFO	bone disease	Spinal Osteophytosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001846	"Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS." []	567621	\N	\N	EFO	2	EFO	skeletal system disease	Spinal Osteophytosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001846	"Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS." []	1149072	\N	\N	EFO	3	EFO	disease	Spinal Osteophytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001846	"Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS." []	2031295	\N	\N	EFO	4	EFO	disposition	Spinal Osteophytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001846	"Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS." []	3181892	\N	\N	EFO	5	EFO	material property	Spinal Osteophytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001846	"Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS." []	4390100	\N	\N	EFO	6	EFO	experimental factor	Spinal Osteophytosis
EFO:1001847	\N	\N	"Subdural hematoma of the SPINAL CANAL." []	EFO:1001847	"Subdural hematoma of the SPINAL CANAL." []	71195	\N	\N	EFO	0	EFO	spinal subdural hematoma	spinal subdural hematoma
EFO:0000618	EFO:1001847	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001847	"Subdural hematoma of the SPINAL CANAL." []	213751	\N	\N	EFO	1	EFO	nervous system disease	spinal subdural hematoma
EFO:0005803	EFO:1001847	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001847	"Subdural hematoma of the SPINAL CANAL." []	213752	\N	\N	EFO	1	EFO	hematological system disease	spinal subdural hematoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001847	"Subdural hematoma of the SPINAL CANAL." []	567622	\N	\N	EFO	2	EFO	disease	spinal subdural hematoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001847	"Subdural hematoma of the SPINAL CANAL." []	567623	\N	\N	EFO	2	EFO	disease	spinal subdural hematoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001847	"Subdural hematoma of the SPINAL CANAL." []	1149073	\N	\N	EFO	3	EFO	disposition	spinal subdural hematoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001847	"Subdural hematoma of the SPINAL CANAL." []	2031296	\N	\N	EFO	4	EFO	material property	spinal subdural hematoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001847	"Subdural hematoma of the SPINAL CANAL." []	3181893	\N	\N	EFO	5	EFO	experimental factor	spinal subdural hematoma
EFO:1001848	\N	\N	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	EFO:1001848	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	71196	\N	\N	EFO	0	EFO	squamous odontogenic tumor	squamous odontogenic tumor
EFO:0005570	EFO:1001848	\N	"A gastrointestinal system cancer that is located_in the oral cavity." []	EFO:1001848	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	213753	\N	\N	EFO	1	EFO	oral cavity cancer	squamous odontogenic tumor
EFO:0000311	EFO:0005570	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001848	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	567624	\N	\N	EFO	2	EFO	cancer	squamous odontogenic tumor
EFO:0005950	EFO:0005570	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1001848	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	567625	\N	\N	EFO	2	EFO	head and neck neoplasia	squamous odontogenic tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001848	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	1149074	\N	\N	EFO	3	EFO	neoplasm	squamous odontogenic tumor
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001848	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	1149075	\N	\N	EFO	3	EFO	head disease	squamous odontogenic tumor
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001848	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	1149076	\N	\N	EFO	3	EFO	neoplasm	squamous odontogenic tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001848	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	2031297	\N	\N	EFO	4	EFO	disease	squamous odontogenic tumor
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001848	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	2031298	\N	\N	EFO	4	EFO	disease	squamous odontogenic tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001848	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	3181894	\N	\N	EFO	5	EFO	disposition	squamous odontogenic tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001848	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	4390101	\N	\N	EFO	6	EFO	material property	squamous odontogenic tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001848	"A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." []	5409559	\N	\N	EFO	7	EFO	experimental factor	squamous odontogenic tumor
EFO:1001849	\N	\N	"Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." []	EFO:1001849	"Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." []	71197	\N	\N	EFO	0	EFO	staphylococcal skin infections	staphylococcal skin infections
EFO:0000701	EFO:1001849	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001849	"Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." []	213754	\N	\N	EFO	1	EFO	skin disease	staphylococcal skin infections
EFO:0000771	EFO:1001849	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001849	"Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." []	213755	\N	\N	EFO	1	EFO	bacterial disease	staphylococcal skin infections
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001849	"Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." []	567626	\N	\N	EFO	2	EFO	disease	staphylococcal skin infections
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001849	"Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." []	567627	\N	\N	EFO	2	EFO	infectious disease	staphylococcal skin infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001849	"Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." []	2031300	\N	\N	EFO	4	EFO	disposition	staphylococcal skin infections
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001849	"Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." []	1149078	\N	\N	EFO	3	EFO	disease	staphylococcal skin infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001849	"Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." []	3000098	\N	\N	EFO	5	EFO	material property	staphylococcal skin infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001849	"Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." []	4133148	\N	\N	EFO	6	EFO	experimental factor	staphylococcal skin infections
EFO:1001850	\N	\N	"Saccular, outward protrusion of all or a portion of the wall of the STOMACH." []	EFO:1001850	"Saccular, outward protrusion of all or a portion of the wall of the STOMACH." []	71198	\N	\N	EFO	0	EFO	stomach diverticulum	stomach diverticulum
EFO:0000405	EFO:1001850	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001850	"Saccular, outward protrusion of all or a portion of the wall of the STOMACH." []	213756	\N	\N	EFO	1	EFO	digestive system disease	stomach diverticulum
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001850	"Saccular, outward protrusion of all or a portion of the wall of the STOMACH." []	567628	\N	\N	EFO	2	EFO	disease	stomach diverticulum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001850	"Saccular, outward protrusion of all or a portion of the wall of the STOMACH." []	1149079	\N	\N	EFO	3	EFO	disposition	stomach diverticulum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001850	"Saccular, outward protrusion of all or a portion of the wall of the STOMACH." []	2031301	\N	\N	EFO	4	EFO	material property	stomach diverticulum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001850	"Saccular, outward protrusion of all or a portion of the wall of the STOMACH." []	3181896	\N	\N	EFO	5	EFO	experimental factor	stomach diverticulum
EFO:1001851	\N	\N	"Bursting of the STOMACH." []	EFO:1001851	"Bursting of the STOMACH." []	71199	\N	\N	EFO	0	EFO	stomach rupture	stomach rupture
EFO:0000405	EFO:1001851	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001851	"Bursting of the STOMACH." []	213757	\N	\N	EFO	1	EFO	digestive system disease	stomach rupture
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001851	"Bursting of the STOMACH." []	567629	\N	\N	EFO	2	EFO	disease	stomach rupture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001851	"Bursting of the STOMACH." []	1149080	\N	\N	EFO	3	EFO	disposition	stomach rupture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001851	"Bursting of the STOMACH." []	2031302	\N	\N	EFO	4	EFO	material property	stomach rupture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001851	"Bursting of the STOMACH." []	3181897	\N	\N	EFO	5	EFO	experimental factor	stomach rupture
EFO:1001852	\N	\N	"Twisting of the STOMACH that may result in gastric ISCHEMIA and GASTRIC OUTLET OBSTRUCTION. It is often associated with DIAPHRAGMATIC HERNIA." []	EFO:1001852	"Twisting of the STOMACH that may result in gastric ISCHEMIA and GASTRIC OUTLET OBSTRUCTION. It is often associated with DIAPHRAGMATIC HERNIA." []	71200	\N	\N	EFO	0	EFO	Stomach Volvulus	Stomach Volvulus
HP:0004796	\N	\N	"" []	EFO:1001852	"Twisting of the STOMACH that may result in gastric ISCHEMIA and GASTRIC OUTLET OBSTRUCTION. It is often associated with DIAPHRAGMATIC HERNIA." []	194957	\N	\N	EFO	0	EFO	Gastrointestinal obstruction	Stomach Volvulus
EFO:1001853	\N	\N	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	EFO:1001853	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	71201	\N	\N	EFO	0	EFO	submandibular gland neoplasm	submandibular gland neoplasm
EFO:0000405	EFO:1001853	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001853	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	213758	\N	\N	EFO	1	EFO	digestive system disease	submandibular gland neoplasm
EFO:0005950	EFO:1001853	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1001853	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	213759	\N	\N	EFO	1	EFO	head and neck neoplasia	submandibular gland neoplasm
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001853	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	567630	\N	\N	EFO	2	EFO	disease	submandibular gland neoplasm
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001853	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	567631	\N	\N	EFO	2	EFO	head disease	submandibular gland neoplasm
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001853	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	567632	\N	\N	EFO	2	EFO	neoplasm	submandibular gland neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001853	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	2031304	\N	\N	EFO	4	EFO	disposition	submandibular gland neoplasm
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001853	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	1149082	\N	\N	EFO	3	EFO	disease	submandibular gland neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001853	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	1149083	\N	\N	EFO	3	EFO	disease	submandibular gland neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001853	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	3000099	\N	\N	EFO	5	EFO	material property	submandibular gland neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001853	"Tumors of the submandibular gland are rare, comprising less than 2% of head and neck neoplasia. Both benign and malignant lesions show a mild symptomatology, resulting in late presentation and in advanced stage of disease." []	4133149	\N	\N	EFO	6	EFO	experimental factor	submandibular gland neoplasm
EFO:1001854	\N	\N	"Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections." []	EFO:1001854	"Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections." []	71202	\N	\N	EFO	0	EFO	subphrenic abscess	subphrenic abscess
EFO:0003030	EFO:1001854	\N	"An abscess (Latin: abscessus) is a collection of pus that has built up within the tissue of the body. Signs and symptoms of abscesses include: redness, pain, warmth, and swelling that when pressed feels like it is fluid filled.[1] The area of redness often extends beyond the swelling. Carbuncles and furuncles are types of abscess that often involves hair follicles with carbuncles being larger" []	EFO:1001854	"Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections." []	213760	\N	\N	EFO	1	EFO	abscess	subphrenic abscess
EFO:0000771	EFO:0003030	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001854	"Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections." []	567633	\N	\N	EFO	2	EFO	bacterial disease	subphrenic abscess
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001854	"Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections." []	1149084	\N	\N	EFO	3	EFO	infectious disease	subphrenic abscess
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001854	"Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections." []	2031305	\N	\N	EFO	4	EFO	disease	subphrenic abscess
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001854	"Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections." []	3181899	\N	\N	EFO	5	EFO	disposition	subphrenic abscess
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001854	"Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections." []	4390102	\N	\N	EFO	6	EFO	material property	subphrenic abscess
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001854	"Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections." []	5409560	\N	\N	EFO	7	EFO	experimental factor	subphrenic abscess
EFO:1001855	\N	\N	"A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms." []	EFO:1001855	"A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms." []	71203	\N	\N	EFO	0	EFO	Superior Vena Cava Syndrome	Superior Vena Cava Syndrome
EFO:0004264	EFO:1001855	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001855	"A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms." []	213761	\N	\N	EFO	1	EFO	vascular disease	Superior Vena Cava Syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001855	"A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms." []	567634	\N	\N	EFO	2	EFO	cardiovascular disease	Superior Vena Cava Syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001855	"A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms." []	1149085	\N	\N	EFO	3	EFO	disease	Superior Vena Cava Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001855	"A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms." []	2031306	\N	\N	EFO	4	EFO	disposition	Superior Vena Cava Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001855	"A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms." []	3181900	\N	\N	EFO	5	EFO	material property	Superior Vena Cava Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001855	"A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms." []	4390103	\N	\N	EFO	6	EFO	experimental factor	Superior Vena Cava Syndrome
EFO:1001856	\N	\N	"A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss." []	EFO:1001856	"A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss." []	71204	\N	\N	EFO	0	EFO	Susac Syndrome	Susac Syndrome
EFO:0005140	EFO:1001856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1001856	"A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss." []	213762	\N	\N	EFO	1	EFO	autoimmune disease	Susac Syndrome
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001856	"A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss." []	567635	\N	\N	EFO	2	EFO	immune system disease	Susac Syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001856	"A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss." []	1149086	\N	\N	EFO	3	EFO	disease	Susac Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001856	"A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss." []	2031307	\N	\N	EFO	4	EFO	disposition	Susac Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001856	"A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss." []	3181901	\N	\N	EFO	5	EFO	material property	Susac Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001856	"A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss." []	4390104	\N	\N	EFO	6	EFO	experimental factor	Susac Syndrome
EFO:1001857	\N	\N	"A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy." []	EFO:1001857	"A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy." []	71205	\N	\N	EFO	0	EFO	Takayasu arteritis	Takayasu arteritis
EFO:0006803	EFO:1001857	\N	"A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. " []	EFO:1001857	"A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy." []	213763	\N	\N	EFO	1	EFO	vasculitis	Takayasu arteritis
EFO:0004264	EFO:0006803	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001857	"A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy." []	567636	\N	\N	EFO	2	EFO	vascular disease	Takayasu arteritis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001857	"A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy." []	1149087	\N	\N	EFO	3	EFO	cardiovascular disease	Takayasu arteritis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001857	"A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy." []	2031308	\N	\N	EFO	4	EFO	disease	Takayasu arteritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001857	"A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy." []	3181902	\N	\N	EFO	5	EFO	disposition	Takayasu arteritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001857	"A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy." []	4390105	\N	\N	EFO	6	EFO	material property	Takayasu arteritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001857	"A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy." []	5409561	\N	\N	EFO	7	EFO	experimental factor	Takayasu arteritis
EFO:1001858	\N	\N	"Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." []	EFO:1001858	"Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." []	71206	\N	\N	EFO	0	EFO	Tarlov Cysts	Tarlov Cysts
EFO:0002431	EFO:1001858	\N	"Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)" []	EFO:1001858	"Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." []	213764	\N	\N	EFO	1	EFO	tumour of cranial and spinal nerves	Tarlov Cysts
EFO:0000311	EFO:0002431	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001858	"Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." []	567637	\N	\N	EFO	2	EFO	cancer	Tarlov Cysts
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001858	"Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." []	1149088	\N	\N	EFO	3	EFO	neoplasm	Tarlov Cysts
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001858	"Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." []	2031309	\N	\N	EFO	4	EFO	disease	Tarlov Cysts
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001858	"Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." []	3181903	\N	\N	EFO	5	EFO	disposition	Tarlov Cysts
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001858	"Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." []	4390106	\N	\N	EFO	6	EFO	material property	Tarlov Cysts
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001858	"Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." []	5409562	\N	\N	EFO	7	EFO	experimental factor	Tarlov Cysts
EFO:1001859	\N	\N	"Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM." []	EFO:1001859	"Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM." []	71207	\N	\N	EFO	0	EFO	testicular hydrocele	testicular hydrocele
EFO:0000512	EFO:1001859	\N	"any diease of the reproductive system" []	EFO:1001859	"Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM." []	213765	\N	\N	EFO	1	EFO	reproductive system disease	testicular hydrocele
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001859	"Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM." []	567638	\N	\N	EFO	2	EFO	disease	testicular hydrocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001859	"Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM." []	1149089	\N	\N	EFO	3	EFO	disposition	testicular hydrocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001859	"Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM." []	2031310	\N	\N	EFO	4	EFO	material property	testicular hydrocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001859	"Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM." []	3181904	\N	\N	EFO	5	EFO	experimental factor	testicular hydrocele
EFO:1001860	\N	\N	"Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)" []	EFO:1001860	"Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)" []	71208	\N	\N	EFO	0	EFO	thymus hyperplasia	thymus hyperplasia
EFO:0000536	EFO:1001860	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	EFO:1001860	"Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)" []	213766	\N	\N	EFO	1	EFO	hyperplasia	thymus hyperplasia
EFO:0001379	EFO:1001860	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001860	"Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)" []	213767	\N	\N	EFO	1	EFO	endocrine system disease	thymus hyperplasia
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001860	"Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)" []	567639	\N	\N	EFO	2	EFO	disease	thymus hyperplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001860	"Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)" []	567640	\N	\N	EFO	2	EFO	disease	thymus hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001860	"Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)" []	1149090	\N	\N	EFO	3	EFO	disposition	thymus hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001860	"Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)" []	2031311	\N	\N	EFO	4	EFO	material property	thymus hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001860	"Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)" []	3181905	\N	\N	EFO	5	EFO	experimental factor	thymus hyperplasia
EFO:1001861	\N	\N	"The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." []	EFO:1001861	"The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." []	71209	\N	\N	EFO	0	EFO	traumatic diaphragmatic hernia	traumatic diaphragmatic hernia
EFO:0007233	EFO:1001861	\N	"a disease in diaphragm" []	EFO:1001861	"The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." []	213768	\N	\N	EFO	1	EFO	diaphragm disease	traumatic diaphragmatic hernia
EFO:0000684	EFO:0007233	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001861	"The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." []	567641	\N	\N	EFO	2	EFO	respiratory system disease	traumatic diaphragmatic hernia
EFO:0002970	EFO:0007233	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1001861	"The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." []	567642	\N	\N	EFO	2	EFO	muscular disease	traumatic diaphragmatic hernia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001861	"The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." []	1149091	\N	\N	EFO	3	EFO	disease	traumatic diaphragmatic hernia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1001861	"The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." []	1149092	\N	\N	EFO	3	EFO	skeletal system disease	traumatic diaphragmatic hernia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001861	"The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." []	3181907	\N	\N	EFO	5	EFO	disposition	traumatic diaphragmatic hernia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001861	"The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." []	2031313	\N	\N	EFO	4	EFO	disease	traumatic diaphragmatic hernia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001861	"The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." []	4133150	\N	\N	EFO	6	EFO	material property	traumatic diaphragmatic hernia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001861	"The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." []	5181377	\N	\N	EFO	7	EFO	experimental factor	traumatic diaphragmatic hernia
EFO:1001862	\N	\N	"An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ." []	EFO:1001862	"An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ." []	71210	\N	\N	EFO	0	EFO	urinary bladder fistula	urinary bladder fistula
EFO:1000018	EFO:1001862	\N	"A disorder affecting the urinary bladder" []	EFO:1001862	"An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ." []	213769	\N	\N	EFO	1	EFO	bladder disease	urinary bladder fistula
EFO:0000408	EFO:1000018	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001862	"An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ." []	567643	\N	\N	EFO	2	EFO	disease	urinary bladder fistula
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001862	"An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ." []	1149093	\N	\N	EFO	3	EFO	disposition	urinary bladder fistula
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001862	"An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ." []	2031314	\N	\N	EFO	4	EFO	material property	urinary bladder fistula
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001862	"An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ." []	3181908	\N	\N	EFO	5	EFO	experimental factor	urinary bladder fistula
EFO:1001863	\N	\N	"Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony." []	EFO:1001863	"Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony." []	71211	\N	\N	EFO	0	EFO	Uterine Inertia	Uterine Inertia
EFO:0000512	EFO:1001863	\N	"any diease of the reproductive system" []	EFO:1001863	"Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony." []	213770	\N	\N	EFO	1	EFO	reproductive system disease	Uterine Inertia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001863	"Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony." []	567644	\N	\N	EFO	2	EFO	disease	Uterine Inertia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001863	"Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony." []	1149094	\N	\N	EFO	3	EFO	disposition	Uterine Inertia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001863	"Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony." []	2031315	\N	\N	EFO	4	EFO	material property	Uterine Inertia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001863	"Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony." []	3181909	\N	\N	EFO	5	EFO	experimental factor	Uterine Inertia
EFO:1001864	\N	\N	"Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice." []	EFO:1001864	"Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice." []	71212	\N	\N	EFO	0	EFO	uterine prolapse	uterine prolapse
EFO:0004710	EFO:1001864	\N	"Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines." []	EFO:1001864	"Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice." []	213771	\N	\N	EFO	1	EFO	pelvic organ prolapse	uterine prolapse
EFO:0000512	EFO:0004710	\N	"any diease of the reproductive system" []	EFO:1001864	"Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice." []	567645	\N	\N	EFO	2	EFO	reproductive system disease	uterine prolapse
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001864	"Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice." []	1149095	\N	\N	EFO	3	EFO	disease	uterine prolapse
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001864	"Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice." []	2031316	\N	\N	EFO	4	EFO	disposition	uterine prolapse
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001864	"Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice." []	3181910	\N	\N	EFO	5	EFO	material property	uterine prolapse
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001864	"Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice." []	4390108	\N	\N	EFO	6	EFO	experimental factor	uterine prolapse
EFO:1001865	\N	\N	"Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." []	EFO:1001865	"Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." []	71213	\N	\N	EFO	0	EFO	ventilator-associated pneumonia	ventilator-associated pneumonia
EFO:0003106	EFO:1001865	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:1001865	"Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." []	213772	\N	\N	EFO	1	EFO	pneumonia	ventilator-associated pneumonia
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001865	"Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." []	567646	\N	\N	EFO	2	EFO	lung disease	ventilator-associated pneumonia
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001865	"Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." []	567647	\N	\N	EFO	2	EFO	infectious disease	ventilator-associated pneumonia
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001865	"Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." []	1149096	\N	\N	EFO	3	EFO	respiratory system disease	ventilator-associated pneumonia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001865	"Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." []	1149097	\N	\N	EFO	3	EFO	disease	ventilator-associated pneumonia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001865	"Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." []	2031317	\N	\N	EFO	4	EFO	disease	ventilator-associated pneumonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001865	"Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." []	3181911	\N	\N	EFO	5	EFO	disposition	ventilator-associated pneumonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001865	"Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." []	4133151	\N	\N	EFO	6	EFO	material property	ventilator-associated pneumonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001865	"Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." []	5181378	\N	\N	EFO	7	EFO	experimental factor	ventilator-associated pneumonia
EFO:1001866	\N	\N	"A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias." []	EFO:1001866	"A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias." []	71214	\N	\N	EFO	0	EFO	ventral hernia	ventral hernia
EFO:0002970	EFO:1001866	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1001866	"A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias." []	213773	\N	\N	EFO	1	EFO	muscular disease	ventral hernia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1001866	"A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias." []	567648	\N	\N	EFO	2	EFO	skeletal system disease	ventral hernia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001866	"A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias." []	1149098	\N	\N	EFO	3	EFO	disease	ventral hernia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001866	"A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias." []	2031319	\N	\N	EFO	4	EFO	disposition	ventral hernia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001866	"A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias." []	3181913	\N	\N	EFO	5	EFO	material property	ventral hernia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001866	"A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias." []	4390110	\N	\N	EFO	6	EFO	experimental factor	ventral hernia
EFO:1001867	\N	\N	"A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus." []	EFO:1001867	"A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus." []	71215	\N	\N	EFO	0	EFO	Zenker diverticulum	Zenker diverticulum
EFO:0000405	EFO:1001867	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001867	"A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus." []	213774	\N	\N	EFO	1	EFO	digestive system disease	Zenker diverticulum
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001867	"A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus." []	567649	\N	\N	EFO	2	EFO	disease	Zenker diverticulum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001867	"A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus." []	1149099	\N	\N	EFO	3	EFO	disposition	Zenker diverticulum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001867	"A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus." []	2031320	\N	\N	EFO	4	EFO	material property	Zenker diverticulum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001867	"A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus." []	3181914	\N	\N	EFO	5	EFO	experimental factor	Zenker diverticulum
EFO:1001868	\N	\N	"CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). " []	EFO:1001868	"CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). " []	71216	\N	\N	EFO	0	EFO	congenital contractures of the limbs and face, hypotonia, and developmental delay	congenital contractures of the limbs and face, hypotonia, and developmental delay
Orphanet:71859	EFO:1001868	\N	"" []	EFO:1001868	"CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). " []	213775	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	congenital contractures of the limbs and face, hypotonia, and developmental delay
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001868	"CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). " []	567650	\N	\N	EFO	2	EFO	genetic disorder	congenital contractures of the limbs and face, hypotonia, and developmental delay
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001868	"CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). " []	1149100	\N	\N	EFO	3	EFO	disease	congenital contractures of the limbs and face, hypotonia, and developmental delay
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001868	"CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). " []	2031321	\N	\N	EFO	4	EFO	disposition	congenital contractures of the limbs and face, hypotonia, and developmental delay
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001868	"CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). " []	3181915	\N	\N	EFO	5	EFO	material property	congenital contractures of the limbs and face, hypotonia, and developmental delay
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001868	"CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). " []	4390111	\N	\N	EFO	6	EFO	experimental factor	congenital contractures of the limbs and face, hypotonia, and developmental delay
EFO:1001869	\N	\N	"Dysentery is a type of gastroenteritis that results in diarrhea with blood. Other symptoms may include fever, abdominal pain,[3] and a feeling of incomplete defecation.\\n\\nIt is caused by a number of types of infection such as bacteria, viruses, parasitic worms, or protozoa. The mechanism is an inflammatory disorder of the intestine, especially of the colon." []	EFO:1001869	"Dysentery is a type of gastroenteritis that results in diarrhea with blood. Other symptoms may include fever, abdominal pain,[3] and a feeling of incomplete defecation.\\n\\nIt is caused by a number of types of infection such as bacteria, viruses, parasitic worms, or protozoa. The mechanism is an inflammatory disorder of the intestine, especially of the colon." []	71217	\N	\N	EFO	0	EFO	dysentery	dysentery
EFO:0000405	EFO:1001869	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001869	"Dysentery is a type of gastroenteritis that results in diarrhea with blood. Other symptoms may include fever, abdominal pain,[3] and a feeling of incomplete defecation.\\n\\nIt is caused by a number of types of infection such as bacteria, viruses, parasitic worms, or protozoa. The mechanism is an inflammatory disorder of the intestine, especially of the colon." []	213776	\N	\N	EFO	1	EFO	digestive system disease	dysentery
EFO:0005741	EFO:1001869	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001869	"Dysentery is a type of gastroenteritis that results in diarrhea with blood. Other symptoms may include fever, abdominal pain,[3] and a feeling of incomplete defecation.\\n\\nIt is caused by a number of types of infection such as bacteria, viruses, parasitic worms, or protozoa. The mechanism is an inflammatory disorder of the intestine, especially of the colon." []	213777	\N	\N	EFO	1	EFO	infectious disease	dysentery
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001869	"Dysentery is a type of gastroenteritis that results in diarrhea with blood. Other symptoms may include fever, abdominal pain,[3] and a feeling of incomplete defecation.\\n\\nIt is caused by a number of types of infection such as bacteria, viruses, parasitic worms, or protozoa. The mechanism is an inflammatory disorder of the intestine, especially of the colon." []	567651	\N	\N	EFO	2	EFO	disease	dysentery
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001869	"Dysentery is a type of gastroenteritis that results in diarrhea with blood. Other symptoms may include fever, abdominal pain,[3] and a feeling of incomplete defecation.\\n\\nIt is caused by a number of types of infection such as bacteria, viruses, parasitic worms, or protozoa. The mechanism is an inflammatory disorder of the intestine, especially of the colon." []	567652	\N	\N	EFO	2	EFO	disease	dysentery
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001869	"Dysentery is a type of gastroenteritis that results in diarrhea with blood. Other symptoms may include fever, abdominal pain,[3] and a feeling of incomplete defecation.\\n\\nIt is caused by a number of types of infection such as bacteria, viruses, parasitic worms, or protozoa. The mechanism is an inflammatory disorder of the intestine, especially of the colon." []	1149101	\N	\N	EFO	3	EFO	disposition	dysentery
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001869	"Dysentery is a type of gastroenteritis that results in diarrhea with blood. Other symptoms may include fever, abdominal pain,[3] and a feeling of incomplete defecation.\\n\\nIt is caused by a number of types of infection such as bacteria, viruses, parasitic worms, or protozoa. The mechanism is an inflammatory disorder of the intestine, especially of the colon." []	2031322	\N	\N	EFO	4	EFO	material property	dysentery
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001869	"Dysentery is a type of gastroenteritis that results in diarrhea with blood. Other symptoms may include fever, abdominal pain,[3] and a feeling of incomplete defecation.\\n\\nIt is caused by a number of types of infection such as bacteria, viruses, parasitic worms, or protozoa. The mechanism is an inflammatory disorder of the intestine, especially of the colon." []	3181916	\N	\N	EFO	5	EFO	experimental factor	dysentery
EFO:1001870	\N	\N	"This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers havent found a particular gene that causes it. No one knows for sure why some people get it and others dont." []	EFO:1001870	"This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers havent found a particular gene that causes it. No one knows for sure why some people get it and others dont." []	71218	\N	\N	EFO	0	EFO	late-onset Alzheimers disease	late-onset Alzheimers disease
EFO:0000249	EFO:1001870	\N	"A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." []	EFO:1001870	"This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers havent found a particular gene that causes it. No one knows for sure why some people get it and others dont." []	213778	\N	\N	EFO	1	EFO	Alzheimers disease	late-onset Alzheimers disease
EFO:0005815	EFO:0000249	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	EFO:1001870	"This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers havent found a particular gene that causes it. No one knows for sure why some people get it and others dont." []	567653	\N	\N	EFO	2	EFO	tauopathy	late-onset Alzheimers disease
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:1001870	"This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers havent found a particular gene that causes it. No one knows for sure why some people get it and others dont." []	1149102	\N	\N	EFO	3	EFO	neurodegenerative disease	late-onset Alzheimers disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001870	"This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers havent found a particular gene that causes it. No one knows for sure why some people get it and others dont." []	2031323	\N	\N	EFO	4	EFO	nervous system disease	late-onset Alzheimers disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001870	"This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers havent found a particular gene that causes it. No one knows for sure why some people get it and others dont." []	3181917	\N	\N	EFO	5	EFO	disease	late-onset Alzheimers disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001870	"This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers havent found a particular gene that causes it. No one knows for sure why some people get it and others dont." []	4390112	\N	\N	EFO	6	EFO	disposition	late-onset Alzheimers disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001870	"This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers havent found a particular gene that causes it. No one knows for sure why some people get it and others dont." []	5409563	\N	\N	EFO	7	EFO	material property	late-onset Alzheimers disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001870	"This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers havent found a particular gene that causes it. No one knows for sure why some people get it and others dont." []	6147687	\N	\N	EFO	8	EFO	experimental factor	late-onset Alzheimers disease
EFO:1001871	\N	\N	"Acquired cold urticaria (ACU) represents a form of inducible urticaria that is characterized by the development of wheals, angioedema, or both in response to exposure to cold air, solids, or liquids.1 ACU symptoms are usually limited to areas of the skin that have been exposed to cold. However, extensive cold contact may result in generalized symptoms, such as headache, dyspnea, hypotension, and a loss of consciousness." []	EFO:1001871	"Acquired cold urticaria (ACU) represents a form of inducible urticaria that is characterized by the development of wheals, angioedema, or both in response to exposure to cold air, solids, or liquids.1 ACU symptoms are usually limited to areas of the skin that have been exposed to cold. However, extensive cold contact may result in generalized symptoms, such as headache, dyspnea, hypotension, and a loss of consciousness." []	71219	\N	\N	EFO	0	EFO	acquired cold urticaria	acquired cold urticaria
EFO:1001881	EFO:1001871	\N	"Cold urticaria (essentially meaning \\"cold hives\\") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. [Wikipedia:Cold_urticaria]" []	EFO:1001871	"Acquired cold urticaria (ACU) represents a form of inducible urticaria that is characterized by the development of wheals, angioedema, or both in response to exposure to cold air, solids, or liquids.1 ACU symptoms are usually limited to areas of the skin that have been exposed to cold. However, extensive cold contact may result in generalized symptoms, such as headache, dyspnea, hypotension, and a loss of consciousness." []	213779	\N	\N	EFO	1	EFO	cold urticaria	acquired cold urticaria
EFO:0005531	EFO:1001881	\N	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	EFO:1001871	"Acquired cold urticaria (ACU) represents a form of inducible urticaria that is characterized by the development of wheals, angioedema, or both in response to exposure to cold air, solids, or liquids.1 ACU symptoms are usually limited to areas of the skin that have been exposed to cold. However, extensive cold contact may result in generalized symptoms, such as headache, dyspnea, hypotension, and a loss of consciousness." []	567654	\N	\N	EFO	2	EFO	urticaria	acquired cold urticaria
EFO:0000701	EFO:0005531	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001871	"Acquired cold urticaria (ACU) represents a form of inducible urticaria that is characterized by the development of wheals, angioedema, or both in response to exposure to cold air, solids, or liquids.1 ACU symptoms are usually limited to areas of the skin that have been exposed to cold. However, extensive cold contact may result in generalized symptoms, such as headache, dyspnea, hypotension, and a loss of consciousness." []	1149103	\N	\N	EFO	3	EFO	skin disease	acquired cold urticaria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001871	"Acquired cold urticaria (ACU) represents a form of inducible urticaria that is characterized by the development of wheals, angioedema, or both in response to exposure to cold air, solids, or liquids.1 ACU symptoms are usually limited to areas of the skin that have been exposed to cold. However, extensive cold contact may result in generalized symptoms, such as headache, dyspnea, hypotension, and a loss of consciousness." []	2031324	\N	\N	EFO	4	EFO	disease	acquired cold urticaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001871	"Acquired cold urticaria (ACU) represents a form of inducible urticaria that is characterized by the development of wheals, angioedema, or both in response to exposure to cold air, solids, or liquids.1 ACU symptoms are usually limited to areas of the skin that have been exposed to cold. However, extensive cold contact may result in generalized symptoms, such as headache, dyspnea, hypotension, and a loss of consciousness." []	3181918	\N	\N	EFO	5	EFO	disposition	acquired cold urticaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001871	"Acquired cold urticaria (ACU) represents a form of inducible urticaria that is characterized by the development of wheals, angioedema, or both in response to exposure to cold air, solids, or liquids.1 ACU symptoms are usually limited to areas of the skin that have been exposed to cold. However, extensive cold contact may result in generalized symptoms, such as headache, dyspnea, hypotension, and a loss of consciousness." []	4390113	\N	\N	EFO	6	EFO	material property	acquired cold urticaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001871	"Acquired cold urticaria (ACU) represents a form of inducible urticaria that is characterized by the development of wheals, angioedema, or both in response to exposure to cold air, solids, or liquids.1 ACU symptoms are usually limited to areas of the skin that have been exposed to cold. However, extensive cold contact may result in generalized symptoms, such as headache, dyspnea, hypotension, and a loss of consciousness." []	5409564	\N	\N	EFO	7	EFO	experimental factor	acquired cold urticaria
EFO:1001872	\N	\N	"A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." []	EFO:1001872	"A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." []	71220	\N	\N	EFO	0	EFO	agoraphobia	agoraphobia
EFO:1001908	EFO:1001872	\N	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	EFO:1001872	"A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." []	213780	\N	\N	EFO	1	EFO	phobic disorder	agoraphobia
EFO:0006788	EFO:1001908	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001872	"A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." []	567655	\N	\N	EFO	2	EFO	anxiety disorder	agoraphobia
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001872	"A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." []	1149104	\N	\N	EFO	3	EFO	mental or behavioural disorder	agoraphobia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001872	"A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." []	2031325	\N	\N	EFO	4	EFO	brain disease	agoraphobia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001872	"A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." []	3181919	\N	\N	EFO	5	EFO	nervous system disease	agoraphobia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001872	"A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." []	4390114	\N	\N	EFO	6	EFO	disease	agoraphobia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001872	"A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." []	5409565	\N	\N	EFO	7	EFO	disposition	agoraphobia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001872	"A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." []	6147688	\N	\N	EFO	8	EFO	material property	agoraphobia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001872	"A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." []	6631886	\N	\N	EFO	9	EFO	experimental factor	agoraphobia
EFO:1001873	\N	\N	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	EFO:1001873	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	71221	\N	\N	EFO	0	EFO	AIDS phobia	AIDS phobia
EFO:1001903	EFO:1001873	\N	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	EFO:1001873	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	213781	\N	\N	EFO	1	EFO	nosophobia	AIDS phobia
EFO:1001918	EFO:1001903	\N	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	EFO:1001873	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	567656	\N	\N	EFO	2	EFO	specific phobia	AIDS phobia
EFO:1001908	EFO:1001918	\N	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	EFO:1001873	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	1149105	\N	\N	EFO	3	EFO	phobic disorder	AIDS phobia
EFO:0006788	EFO:1001908	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001873	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	2031326	\N	\N	EFO	4	EFO	anxiety disorder	AIDS phobia
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001873	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	3181920	\N	\N	EFO	5	EFO	mental or behavioural disorder	AIDS phobia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001873	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	4390115	\N	\N	EFO	6	EFO	brain disease	AIDS phobia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001873	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	5409566	\N	\N	EFO	7	EFO	nervous system disease	AIDS phobia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001873	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	6147689	\N	\N	EFO	8	EFO	disease	AIDS phobia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001873	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	6631887	\N	\N	EFO	9	EFO	disposition	AIDS phobia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001873	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	6925321	\N	\N	EFO	10	EFO	material property	AIDS phobia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001873	"An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." []	7098995	\N	\N	EFO	11	EFO	experimental factor	AIDS phobia
EFO:1001874	\N	\N	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	EFO:1001874	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	71222	\N	\N	EFO	0	EFO	amyloidoma	amyloidoma
EFO:1001875	EFO:1001874	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	EFO:1001874	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	213782	\N	\N	EFO	1	EFO	amyloidosis	amyloidoma
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	EFO:1001874	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	567657	\N	\N	EFO	2	EFO	acquired metabolic disease	amyloidoma
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001874	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	1149106	\N	\N	EFO	3	EFO	metabolic disease	amyloidoma
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001874	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	2031327	\N	\N	EFO	4	EFO	disease	amyloidoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001874	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	3181921	\N	\N	EFO	5	EFO	disposition	amyloidoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001874	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	4390116	\N	\N	EFO	6	EFO	material property	amyloidoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001874	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	5409567	\N	\N	EFO	7	EFO	experimental factor	amyloidoma
EFO:1001875	\N	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	EFO:1001875	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	71223	\N	\N	EFO	0	EFO	amyloidosis	amyloidosis
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	EFO:1001875	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	213783	\N	\N	EFO	1	EFO	acquired metabolic disease	amyloidosis
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001875	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	567658	\N	\N	EFO	2	EFO	metabolic disease	amyloidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001875	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	1149107	\N	\N	EFO	3	EFO	disease	amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001875	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	2031328	\N	\N	EFO	4	EFO	disposition	amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001875	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	3181922	\N	\N	EFO	5	EFO	material property	amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001875	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	4390117	\N	\N	EFO	6	EFO	experimental factor	amyloidosis
EFO:1001876	\N	\N	"An overwhelming, irrational, and persistent fear of animals." []	EFO:1001876	"An overwhelming, irrational, and persistent fear of animals." []	71224	\N	\N	EFO	0	EFO	animal phobia	animal phobia
EFO:1001918	EFO:1001876	\N	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	EFO:1001876	"An overwhelming, irrational, and persistent fear of animals." []	213784	\N	\N	EFO	1	EFO	specific phobia	animal phobia
EFO:1001908	EFO:1001918	\N	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	EFO:1001876	"An overwhelming, irrational, and persistent fear of animals." []	567659	\N	\N	EFO	2	EFO	phobic disorder	animal phobia
EFO:0006788	EFO:1001908	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001876	"An overwhelming, irrational, and persistent fear of animals." []	1149108	\N	\N	EFO	3	EFO	anxiety disorder	animal phobia
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001876	"An overwhelming, irrational, and persistent fear of animals." []	2031329	\N	\N	EFO	4	EFO	mental or behavioural disorder	animal phobia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001876	"An overwhelming, irrational, and persistent fear of animals." []	3181923	\N	\N	EFO	5	EFO	brain disease	animal phobia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001876	"An overwhelming, irrational, and persistent fear of animals." []	4390118	\N	\N	EFO	6	EFO	nervous system disease	animal phobia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001876	"An overwhelming, irrational, and persistent fear of animals." []	5409568	\N	\N	EFO	7	EFO	disease	animal phobia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001876	"An overwhelming, irrational, and persistent fear of animals." []	6147690	\N	\N	EFO	8	EFO	disposition	animal phobia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001876	"An overwhelming, irrational, and persistent fear of animals." []	6631888	\N	\N	EFO	9	EFO	material property	animal phobia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001876	"An overwhelming, irrational, and persistent fear of animals." []	6925322	\N	\N	EFO	10	EFO	experimental factor	animal phobia
EFO:1001877	\N	\N	"" []	EFO:1001877	"" []	71225	\N	\N	EFO	0	EFO	anxiety-like behavior	anxiety-like behavior
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:1001877	"" []	194958	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	anxiety-like behavior
EFO:1001878	\N	\N	"According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." []	EFO:1001878	"According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." []	71226	\N	\N	EFO	0	EFO	blood-injection-injury phobia	blood-injection-injury phobia
EFO:1001918	EFO:1001878	\N	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	EFO:1001878	"According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." []	213785	\N	\N	EFO	1	EFO	specific phobia	blood-injection-injury phobia
EFO:1001908	EFO:1001918	\N	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	EFO:1001878	"According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." []	567660	\N	\N	EFO	2	EFO	phobic disorder	blood-injection-injury phobia
EFO:0006788	EFO:1001908	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001878	"According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." []	1149109	\N	\N	EFO	3	EFO	anxiety disorder	blood-injection-injury phobia
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001878	"According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." []	2031330	\N	\N	EFO	4	EFO	mental or behavioural disorder	blood-injection-injury phobia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001878	"According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." []	3181924	\N	\N	EFO	5	EFO	brain disease	blood-injection-injury phobia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001878	"According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." []	4390119	\N	\N	EFO	6	EFO	nervous system disease	blood-injection-injury phobia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001878	"According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." []	5409569	\N	\N	EFO	7	EFO	disease	blood-injection-injury phobia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001878	"According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." []	6147691	\N	\N	EFO	8	EFO	disposition	blood-injection-injury phobia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001878	"According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." []	6631889	\N	\N	EFO	9	EFO	material property	blood-injection-injury phobia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001878	"According to the DSM-IV classification of mental disorders blood-injection-injury type phobias constitute a subtype of specific phobias. It includes fear of blood (hemophobia), injury phobia and fear of receiving an injection (trypanophobia and some other names) or other invasive medical procedures." []	6925323	\N	\N	EFO	10	EFO	experimental factor	blood-injection-injury phobia
EFO:1001879	\N	\N	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	EFO:1001879	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	71227	\N	\N	EFO	0	EFO	cancerophobia	cancerophobia
EFO:1001903	EFO:1001879	\N	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	EFO:1001879	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	213786	\N	\N	EFO	1	EFO	nosophobia	cancerophobia
EFO:1001918	EFO:1001903	\N	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	EFO:1001879	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	567661	\N	\N	EFO	2	EFO	specific phobia	cancerophobia
EFO:1001908	EFO:1001918	\N	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	EFO:1001879	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	1149110	\N	\N	EFO	3	EFO	phobic disorder	cancerophobia
EFO:0006788	EFO:1001908	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001879	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	2031331	\N	\N	EFO	4	EFO	anxiety disorder	cancerophobia
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001879	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	3181925	\N	\N	EFO	5	EFO	mental or behavioural disorder	cancerophobia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001879	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	4390120	\N	\N	EFO	6	EFO	brain disease	cancerophobia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001879	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	5409570	\N	\N	EFO	7	EFO	nervous system disease	cancerophobia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001879	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	6147692	\N	\N	EFO	8	EFO	disease	cancerophobia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001879	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	6631890	\N	\N	EFO	9	EFO	disposition	cancerophobia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001879	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	6925324	\N	\N	EFO	10	EFO	material property	cancerophobia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001879	"An overwhelming, irrational, and persistent fear of being diagnosed with cancer." []	7098996	\N	\N	EFO	11	EFO	experimental factor	cancerophobia
EFO:1001880	\N	\N	"inflammation and ulceration of the gastrointestinal mucosa as a result of chemotherapy treatment" []	EFO:1001880	"inflammation and ulceration of the gastrointestinal mucosa as a result of chemotherapy treatment" []	71228	\N	\N	EFO	0	EFO	chemotherapy-induced gastrointestinal mucositis	chemotherapy-induced gastrointestinal mucositis
EFO:0000405	EFO:1001880	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001880	"inflammation and ulceration of the gastrointestinal mucosa as a result of chemotherapy treatment" []	213787	\N	\N	EFO	1	EFO	digestive system disease	chemotherapy-induced gastrointestinal mucositis
EFO:1001891	EFO:1001880	\N	"" []	EFO:1001880	"inflammation and ulceration of the gastrointestinal mucosa as a result of chemotherapy treatment" []	213788	\N	\N	EFO	1	EFO	gastrointestinal mucositis	chemotherapy-induced gastrointestinal mucositis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001880	"inflammation and ulceration of the gastrointestinal mucosa as a result of chemotherapy treatment" []	567662	\N	\N	EFO	2	EFO	disease	chemotherapy-induced gastrointestinal mucositis
EFO:1001898	EFO:1001891	\N	"Mucositis is inflammation and damage of the mucous membranes lining the mouth and other parts of the gastrointestinal (GI) tract." []	EFO:1001880	"inflammation and ulceration of the gastrointestinal mucosa as a result of chemotherapy treatment" []	567663	\N	\N	EFO	2	EFO	mucositis	chemotherapy-induced gastrointestinal mucositis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001880	"inflammation and ulceration of the gastrointestinal mucosa as a result of chemotherapy treatment" []	1149111	\N	\N	EFO	3	EFO	disposition	chemotherapy-induced gastrointestinal mucositis
MP:0001845	EFO:1001898	\N	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	EFO:1001880	"inflammation and ulceration of the gastrointestinal mucosa as a result of chemotherapy treatment" []	1149112	\N	\N	EFO	3	EFO	inflammation	chemotherapy-induced gastrointestinal mucositis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001880	"inflammation and ulceration of the gastrointestinal mucosa as a result of chemotherapy treatment" []	2031332	\N	\N	EFO	4	EFO	material property	chemotherapy-induced gastrointestinal mucositis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001880	"inflammation and ulceration of the gastrointestinal mucosa as a result of chemotherapy treatment" []	3181926	\N	\N	EFO	5	EFO	experimental factor	chemotherapy-induced gastrointestinal mucositis
EFO:1001881	\N	\N	"Cold urticaria (essentially meaning \\"cold hives\\") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. [Wikipedia:Cold_urticaria]" []	EFO:1001881	"Cold urticaria (essentially meaning \\"cold hives\\") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. [Wikipedia:Cold_urticaria]" []	71229	\N	\N	EFO	0	EFO	cold urticaria	cold urticaria
EFO:0005531	EFO:1001881	\N	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	EFO:1001881	"Cold urticaria (essentially meaning \\"cold hives\\") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. [Wikipedia:Cold_urticaria]" []	213789	\N	\N	EFO	1	EFO	urticaria	cold urticaria
EFO:0000701	EFO:0005531	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001881	"Cold urticaria (essentially meaning \\"cold hives\\") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. [Wikipedia:Cold_urticaria]" []	567664	\N	\N	EFO	2	EFO	skin disease	cold urticaria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001881	"Cold urticaria (essentially meaning \\"cold hives\\") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. [Wikipedia:Cold_urticaria]" []	1149113	\N	\N	EFO	3	EFO	disease	cold urticaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001881	"Cold urticaria (essentially meaning \\"cold hives\\") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. [Wikipedia:Cold_urticaria]" []	2031333	\N	\N	EFO	4	EFO	disposition	cold urticaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001881	"Cold urticaria (essentially meaning \\"cold hives\\") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. [Wikipedia:Cold_urticaria]" []	3181927	\N	\N	EFO	5	EFO	material property	cold urticaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001881	"Cold urticaria (essentially meaning \\"cold hives\\") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. [Wikipedia:Cold_urticaria]" []	4390121	\N	\N	EFO	6	EFO	experimental factor	cold urticaria
EFO:1001882	\N	\N	"" []	EFO:1001882	"" []	71230	\N	\N	EFO	0	EFO	cutaneous nodular amyloidosis	cutaneous nodular amyloidosis
EFO:1001874	EFO:1001882	\N	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	EFO:1001882	"" []	213790	\N	\N	EFO	1	EFO	amyloidoma	cutaneous nodular amyloidosis
EFO:1001875	EFO:1001874	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	EFO:1001882	"" []	567665	\N	\N	EFO	2	EFO	amyloidosis	cutaneous nodular amyloidosis
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	EFO:1001882	"" []	1149114	\N	\N	EFO	3	EFO	acquired metabolic disease	cutaneous nodular amyloidosis
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001882	"" []	2031334	\N	\N	EFO	4	EFO	metabolic disease	cutaneous nodular amyloidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001882	"" []	3181928	\N	\N	EFO	5	EFO	disease	cutaneous nodular amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001882	"" []	4390122	\N	\N	EFO	6	EFO	disposition	cutaneous nodular amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001882	"" []	5409571	\N	\N	EFO	7	EFO	material property	cutaneous nodular amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001882	"" []	6147693	\N	\N	EFO	8	EFO	experimental factor	cutaneous nodular amyloidosis
EFO:1001883	\N	\N	"a form of herpetic keratitis with dendritic (branching) ulcers" []	EFO:1001883	"a form of herpetic keratitis with dendritic (branching) ulcers" []	71231	\N	\N	EFO	0	EFO	Dendritic keratitis	Dendritic keratitis
EFO:0007308	EFO:1001883	\N	"A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." []	EFO:1001883	"a form of herpetic keratitis with dendritic (branching) ulcers" []	213791	\N	\N	EFO	1	EFO	Herpes simplex virus keratitis	Dendritic keratitis
EFO:0000524	EFO:0007308	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001883	"a form of herpetic keratitis with dendritic (branching) ulcers" []	567666	\N	\N	EFO	2	EFO	head disease	Dendritic keratitis
EFO:0000763	EFO:0007308	\N	"A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus." []	EFO:1001883	"a form of herpetic keratitis with dendritic (branching) ulcers" []	567667	\N	\N	EFO	2	EFO	viral disease	Dendritic keratitis
EFO:0003966	EFO:0007308	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001883	"a form of herpetic keratitis with dendritic (branching) ulcers" []	567668	\N	\N	EFO	2	EFO	eye disease	Dendritic keratitis
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001883	"a form of herpetic keratitis with dendritic (branching) ulcers" []	1149115	\N	\N	EFO	3	EFO	disease	Dendritic keratitis
EFO:0005741	EFO:0000763	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001883	"a form of herpetic keratitis with dendritic (branching) ulcers" []	1149116	\N	\N	EFO	3	EFO	infectious disease	Dendritic keratitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001883	"a form of herpetic keratitis with dendritic (branching) ulcers" []	1149117	\N	\N	EFO	3	EFO	disease	Dendritic keratitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001883	"a form of herpetic keratitis with dendritic (branching) ulcers" []	3181930	\N	\N	EFO	5	EFO	disposition	Dendritic keratitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001883	"a form of herpetic keratitis with dendritic (branching) ulcers" []	2031336	\N	\N	EFO	4	EFO	disease	Dendritic keratitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001883	"a form of herpetic keratitis with dendritic (branching) ulcers" []	4133152	\N	\N	EFO	6	EFO	material property	Dendritic keratitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001883	"a form of herpetic keratitis with dendritic (branching) ulcers" []	5181379	\N	\N	EFO	7	EFO	experimental factor	Dendritic keratitis
EFO:1001884	\N	\N	"Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." []	EFO:1001884	"Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." []	71232	\N	\N	EFO	0	EFO	dental phobia	dental phobia
EFO:1001918	EFO:1001884	\N	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	EFO:1001884	"Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." []	213792	\N	\N	EFO	1	EFO	specific phobia	dental phobia
EFO:1001908	EFO:1001918	\N	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	EFO:1001884	"Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." []	567669	\N	\N	EFO	2	EFO	phobic disorder	dental phobia
EFO:0006788	EFO:1001908	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001884	"Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." []	1149118	\N	\N	EFO	3	EFO	anxiety disorder	dental phobia
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001884	"Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." []	2031337	\N	\N	EFO	4	EFO	mental or behavioural disorder	dental phobia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001884	"Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." []	3181931	\N	\N	EFO	5	EFO	brain disease	dental phobia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001884	"Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." []	4390124	\N	\N	EFO	6	EFO	nervous system disease	dental phobia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001884	"Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." []	5409572	\N	\N	EFO	7	EFO	disease	dental phobia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001884	"Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." []	6147694	\N	\N	EFO	8	EFO	disposition	dental phobia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001884	"Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." []	6631891	\N	\N	EFO	9	EFO	material property	dental phobia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001884	"Dental fear (also called dental phobia, odontophobia, dentophobia, dentist phobia, and dental anxiety) is the fear of dentistry and of receiving dental care." []	6925325	\N	\N	EFO	10	EFO	experimental factor	dental phobia
EFO:1001885	\N	\N	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	71233	\N	\N	EFO	0	EFO	diffuse alveolar-septal amyloidosis	diffuse alveolar-septal amyloidosis
EFO:1001910	EFO:1001885	\N	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	213793	\N	\N	EFO	1	EFO	pulmonary amyloidosis	diffuse alveolar-septal amyloidosis
EFO:0003818	EFO:1001910	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	567670	\N	\N	EFO	2	EFO	lung disease	diffuse alveolar-septal amyloidosis
EFO:1001874	EFO:1001910	\N	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	567671	\N	\N	EFO	2	EFO	amyloidoma	diffuse alveolar-septal amyloidosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	1149119	\N	\N	EFO	3	EFO	respiratory system disease	diffuse alveolar-septal amyloidosis
EFO:1001875	EFO:1001874	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	1149120	\N	\N	EFO	3	EFO	amyloidosis	diffuse alveolar-septal amyloidosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	2031338	\N	\N	EFO	4	EFO	disease	diffuse alveolar-septal amyloidosis
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	2031339	\N	\N	EFO	4	EFO	acquired metabolic disease	diffuse alveolar-septal amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	5409574	\N	\N	EFO	7	EFO	disposition	diffuse alveolar-septal amyloidosis
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	3181933	\N	\N	EFO	5	EFO	metabolic disease	diffuse alveolar-septal amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	5876662	\N	\N	EFO	8	EFO	material property	diffuse alveolar-septal amyloidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	4390126	\N	\N	EFO	6	EFO	disease	diffuse alveolar-septal amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001885	"Diffuse alveolar-septal amyloidosis, also known as diffuse parenchymal amyloidosis, is characterized by the presence of amyloid deposits in the alveolar septa and vessel walls. [PMID:28134587]" []	6469876	\N	\N	EFO	9	EFO	experimental factor	diffuse alveolar-septal amyloidosis
EFO:1001886	\N	\N	"Various physiological or molecular disturbances that impair ENDOPLASMIC RETICULUM function. It triggers many responses, including UNFOLDED PROTEIN RESPONSE, which may lead to APOPTOSIS; and AUTOPHAGY." []	EFO:1001886	"Various physiological or molecular disturbances that impair ENDOPLASMIC RETICULUM function. It triggers many responses, including UNFOLDED PROTEIN RESPONSE, which may lead to APOPTOSIS; and AUTOPHAGY." []	71234	\N	\N	EFO	0	EFO	Endoplasmic Reticulum Stress	Endoplasmic Reticulum Stress
GO:0044237	\N	\N	"The chemical reactions and pathways by which individual cells transform chemical substances." [GOC:go_curators]	EFO:1001886	"Various physiological or molecular disturbances that impair ENDOPLASMIC RETICULUM function. It triggers many responses, including UNFOLDED PROTEIN RESPONSE, which may lead to APOPTOSIS; and AUTOPHAGY." []	194959	\N	goslim_pir,gosubset_prok	EFO	0	EFO	cellular metabolic process	Endoplasmic Reticulum Stress
EFO:1001887	\N	\N	"Inflammation of the epicondyles." []	EFO:1001887	"Inflammation of the epicondyles." []	71235	\N	\N	EFO	0	EFO	epicondylitis	epicondylitis
EFO:1001434	EFO:1001887	\N	"Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. Distinguishing tendinosis from tendinitis is clinically difficult and can be made only after histopathological examination." []	EFO:1001887	"Inflammation of the epicondyles." []	213794	\N	\N	EFO	1	EFO	Tendinopathy	epicondylitis
EFO:0004260	EFO:1001434	\N	"Diseases of BONES." []	EFO:1001887	"Inflammation of the epicondyles." []	567672	\N	\N	EFO	2	EFO	bone disease	epicondylitis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001887	"Inflammation of the epicondyles." []	1149121	\N	\N	EFO	3	EFO	skeletal system disease	epicondylitis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001887	"Inflammation of the epicondyles." []	2031340	\N	\N	EFO	4	EFO	disease	epicondylitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001887	"Inflammation of the epicondyles." []	3181934	\N	\N	EFO	5	EFO	disposition	epicondylitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001887	"Inflammation of the epicondyles." []	4390127	\N	\N	EFO	6	EFO	material property	epicondylitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001887	"Inflammation of the epicondyles." []	5409575	\N	\N	EFO	7	EFO	experimental factor	epicondylitis
EFO:1001888	\N	\N	"An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." []	EFO:1001888	"An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." []	71236	\N	\N	EFO	0	EFO	eye infection	eye infection
EFO:0003966	EFO:1001888	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001888	"An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." []	213795	\N	\N	EFO	1	EFO	eye disease	eye infection
EFO:0005741	EFO:1001888	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001888	"An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." []	213796	\N	\N	EFO	1	EFO	infectious disease	eye infection
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001888	"An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." []	567673	\N	\N	EFO	2	EFO	disease	eye infection
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001888	"An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." []	567674	\N	\N	EFO	2	EFO	disease	eye infection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001888	"An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." []	1149122	\N	\N	EFO	3	EFO	disposition	eye infection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001888	"An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." []	2031341	\N	\N	EFO	4	EFO	material property	eye infection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001888	"An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." []	3181935	\N	\N	EFO	5	EFO	experimental factor	eye infection
EFO:1001889	\N	\N	"Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." []	EFO:1001889	"Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." []	71237	\N	\N	EFO	0	EFO	flying phobia	flying phobia
EFO:1001918	EFO:1001889	\N	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	EFO:1001889	"Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." []	213797	\N	\N	EFO	1	EFO	specific phobia	flying phobia
EFO:1001908	EFO:1001918	\N	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	EFO:1001889	"Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." []	567675	\N	\N	EFO	2	EFO	phobic disorder	flying phobia
EFO:0006788	EFO:1001908	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001889	"Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." []	1149123	\N	\N	EFO	3	EFO	anxiety disorder	flying phobia
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001889	"Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." []	2031342	\N	\N	EFO	4	EFO	mental or behavioural disorder	flying phobia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001889	"Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." []	3181936	\N	\N	EFO	5	EFO	brain disease	flying phobia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001889	"Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." []	4390128	\N	\N	EFO	6	EFO	nervous system disease	flying phobia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001889	"Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." []	5409576	\N	\N	EFO	7	EFO	disease	flying phobia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001889	"Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." []	6147695	\N	\N	EFO	8	EFO	disposition	flying phobia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001889	"Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." []	6631892	\N	\N	EFO	9	EFO	material property	flying phobia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001889	"Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)." []	6925326	\N	\N	EFO	10	EFO	experimental factor	flying phobia
EFO:1001890	\N	\N	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	EFO:1001890	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	71238	\N	\N	EFO	0	EFO	food allergy	food allergy
EFO:0003785	EFO:1001890	\N	"An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." []	EFO:1001890	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	213798	\N	\N	EFO	1	EFO	allergy	food allergy
EFO:0000540	EFO:0003785	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001890	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	567676	\N	\N	EFO	2	EFO	immune system disease	food allergy
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001890	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	1149124	\N	\N	EFO	3	EFO	disease	food allergy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001890	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	2031343	\N	\N	EFO	4	EFO	disposition	food allergy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001890	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	3181937	\N	\N	EFO	5	EFO	material property	food allergy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001890	"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." []	4390129	\N	\N	EFO	6	EFO	experimental factor	food allergy
EFO:1001891	\N	\N	"" []	EFO:1001891	"" []	71239	\N	\N	EFO	0	EFO	gastrointestinal mucositis	gastrointestinal mucositis
EFO:1001898	EFO:1001891	\N	"Mucositis is inflammation and damage of the mucous membranes lining the mouth and other parts of the gastrointestinal (GI) tract." []	EFO:1001891	"" []	213799	\N	\N	EFO	1	EFO	mucositis	gastrointestinal mucositis
MP:0001845	EFO:1001898	\N	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	EFO:1001891	"" []	567677	\N	\N	EFO	2	EFO	inflammation	gastrointestinal mucositis
EFO:1001892	\N	\N	"An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." []	EFO:1001892	"An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." []	71240	\N	\N	EFO	0	EFO	generalized anxiety disorder	generalized anxiety disorder
EFO:0006788	EFO:1001892	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001892	"An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." []	213800	\N	\N	EFO	1	EFO	anxiety disorder	generalized anxiety disorder
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001892	"An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." []	567678	\N	\N	EFO	2	EFO	mental or behavioural disorder	generalized anxiety disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001892	"An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." []	1149125	\N	\N	EFO	3	EFO	brain disease	generalized anxiety disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001892	"An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." []	2031344	\N	\N	EFO	4	EFO	nervous system disease	generalized anxiety disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001892	"An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." []	3181938	\N	\N	EFO	5	EFO	disease	generalized anxiety disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001892	"An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." []	4390130	\N	\N	EFO	6	EFO	disposition	generalized anxiety disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001892	"An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." []	5409577	\N	\N	EFO	7	EFO	material property	generalized anxiety disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001892	"An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." []	6147696	\N	\N	EFO	8	EFO	experimental factor	generalized anxiety disorder
EFO:1001893	\N	\N	"" []	EFO:1001893	"" []	71241	\N	\N	EFO	0	EFO	Hand-foot syndrome	Hand-foot syndrome
EFO:0000701	EFO:1001893	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001893	"" []	213801	\N	\N	EFO	1	EFO	skin disease	Hand-foot syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001893	"" []	567679	\N	\N	EFO	2	EFO	disease	Hand-foot syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001893	"" []	1149126	\N	\N	EFO	3	EFO	disposition	Hand-foot syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001893	"" []	2031345	\N	\N	EFO	4	EFO	material property	Hand-foot syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001893	"" []	3181939	\N	\N	EFO	5	EFO	experimental factor	Hand-foot syndrome
EFO:1001896	\N	\N	"inflammation of the lateral epicondyle." []	EFO:1001896	"inflammation of the lateral epicondyle." []	71242	\N	\N	EFO	0	EFO	lateral epicondylitis	lateral epicondylitis
EFO:1001887	EFO:1001896	\N	"Inflammation of the epicondyles." []	EFO:1001896	"inflammation of the lateral epicondyle." []	213802	\N	\N	EFO	1	EFO	epicondylitis	lateral epicondylitis
EFO:1001434	EFO:1001887	\N	"Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. Distinguishing tendinosis from tendinitis is clinically difficult and can be made only after histopathological examination." []	EFO:1001896	"inflammation of the lateral epicondyle." []	567680	\N	\N	EFO	2	EFO	Tendinopathy	lateral epicondylitis
EFO:0004260	EFO:1001434	\N	"Diseases of BONES." []	EFO:1001896	"inflammation of the lateral epicondyle." []	1149127	\N	\N	EFO	3	EFO	bone disease	lateral epicondylitis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001896	"inflammation of the lateral epicondyle." []	2031346	\N	\N	EFO	4	EFO	skeletal system disease	lateral epicondylitis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001896	"inflammation of the lateral epicondyle." []	3181940	\N	\N	EFO	5	EFO	disease	lateral epicondylitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001896	"inflammation of the lateral epicondyle." []	4390131	\N	\N	EFO	6	EFO	disposition	lateral epicondylitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001896	"inflammation of the lateral epicondyle." []	5409578	\N	\N	EFO	7	EFO	material property	lateral epicondylitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001896	"inflammation of the lateral epicondyle." []	6147697	\N	\N	EFO	8	EFO	experimental factor	lateral epicondylitis
EFO:1001897	\N	\N	"Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435]" []	EFO:1001897	"Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435]" []	71243	\N	\N	EFO	0	EFO	Morvan syndrome	Morvan syndrome
EFO:1001899	EFO:1001897	\N	"" []	EFO:1001897	"Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435]" []	213803	\N	\N	EFO	1	EFO	muscular channelopathy	Morvan syndrome
EFO:1001902	EFO:1001899	\N	"A neuropathy that affect the nerves that control the voluntary muscles." []	EFO:1001897	"Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435]" []	567681	\N	\N	EFO	2	EFO	neuromuscular disease	Morvan syndrome
EFO:0004149	EFO:1001902	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001897	"Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435]" []	1149128	\N	\N	EFO	3	EFO	neuropathy	Morvan syndrome
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001897	"Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435]" []	2031347	\N	\N	EFO	4	EFO	nervous system disease	Morvan syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001897	"Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435]" []	3181941	\N	\N	EFO	5	EFO	disease	Morvan syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001897	"Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435]" []	4390132	\N	\N	EFO	6	EFO	disposition	Morvan syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001897	"Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435]" []	5409579	\N	\N	EFO	7	EFO	material property	Morvan syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001897	"Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435]" []	6147698	\N	\N	EFO	8	EFO	experimental factor	Morvan syndrome
EFO:1001898	\N	\N	"Mucositis is inflammation and damage of the mucous membranes lining the mouth and other parts of the gastrointestinal (GI) tract." []	EFO:1001898	"Mucositis is inflammation and damage of the mucous membranes lining the mouth and other parts of the gastrointestinal (GI) tract." []	71244	\N	\N	EFO	0	EFO	mucositis	mucositis
MP:0001845	EFO:1001898	\N	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	EFO:1001898	"Mucositis is inflammation and damage of the mucous membranes lining the mouth and other parts of the gastrointestinal (GI) tract." []	213804	\N	\N	EFO	1	EFO	inflammation	mucositis
EFO:1001899	\N	\N	"" []	EFO:1001899	"" []	71245	\N	\N	EFO	0	EFO	muscular channelopathy	muscular channelopathy
EFO:1001902	EFO:1001899	\N	"A neuropathy that affect the nerves that control the voluntary muscles." []	EFO:1001899	"" []	213805	\N	\N	EFO	1	EFO	neuromuscular disease	muscular channelopathy
EFO:0004149	EFO:1001902	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001899	"" []	567682	\N	\N	EFO	2	EFO	neuropathy	muscular channelopathy
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001899	"" []	1149129	\N	\N	EFO	3	EFO	nervous system disease	muscular channelopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001899	"" []	2031348	\N	\N	EFO	4	EFO	disease	muscular channelopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001899	"" []	3181942	\N	\N	EFO	5	EFO	disposition	muscular channelopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001899	"" []	4390133	\N	\N	EFO	6	EFO	material property	muscular channelopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001899	"" []	5409580	\N	\N	EFO	7	EFO	experimental factor	muscular channelopathy
EFO:1001900	\N	\N	"A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)." []	EFO:1001900	"A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)." []	71246	\N	\N	EFO	0	EFO	myoclonic epilepsy	myoclonic epilepsy
EFO:0000474	EFO:1001900	\N	"A disorder characterized by recurrent seizures" []	EFO:1001900	"A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)." []	213806	\N	\N	EFO	1	EFO	epilepsy	myoclonic epilepsy
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	EFO:1001900	"A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)." []	567683	\N	\N	EFO	2	EFO	brain disease	myoclonic epilepsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001900	"A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)." []	1149130	\N	\N	EFO	3	EFO	nervous system disease	myoclonic epilepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001900	"A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)." []	2031349	\N	\N	EFO	4	EFO	disease	myoclonic epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001900	"A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)." []	3181943	\N	\N	EFO	5	EFO	disposition	myoclonic epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001900	"A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)." []	4390134	\N	\N	EFO	6	EFO	material property	myoclonic epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001900	"A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)." []	5409581	\N	\N	EFO	7	EFO	experimental factor	myoclonic epilepsy
EFO:1001901	\N	\N	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	EFO:1001901	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	71247	\N	\N	EFO	0	EFO	neuroendocrine neoplasm	neuroendocrine neoplasm
EFO:0003769	EFO:1001901	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001901	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	213807	\N	\N	EFO	1	EFO	endocrine neoplasm	neuroendocrine neoplasm
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001901	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	567684	\N	\N	EFO	2	EFO	neoplasm	neuroendocrine neoplasm
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001901	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	567685	\N	\N	EFO	2	EFO	endocrine system disease	neuroendocrine neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001901	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	1149131	\N	\N	EFO	3	EFO	disease	neuroendocrine neoplasm
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001901	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	1149132	\N	\N	EFO	3	EFO	disease	neuroendocrine neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001901	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	2031350	\N	\N	EFO	4	EFO	disposition	neuroendocrine neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001901	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	3181944	\N	\N	EFO	5	EFO	material property	neuroendocrine neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001901	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	4390135	\N	\N	EFO	6	EFO	experimental factor	neuroendocrine neoplasm
EFO:1001902	\N	\N	"A neuropathy that affect the nerves that control the voluntary muscles." []	EFO:1001902	"A neuropathy that affect the nerves that control the voluntary muscles." []	71248	\N	\N	EFO	0	EFO	neuromuscular disease	neuromuscular disease
EFO:0004149	EFO:1001902	\N	"A nervous system disease that is located in the nervous system." []	EFO:1001902	"A neuropathy that affect the nerves that control the voluntary muscles." []	213808	\N	\N	EFO	1	EFO	neuropathy	neuromuscular disease
EFO:0000618	EFO:0004149	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001902	"A neuropathy that affect the nerves that control the voluntary muscles." []	567686	\N	\N	EFO	2	EFO	nervous system disease	neuromuscular disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001902	"A neuropathy that affect the nerves that control the voluntary muscles." []	1149133	\N	\N	EFO	3	EFO	disease	neuromuscular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001902	"A neuropathy that affect the nerves that control the voluntary muscles." []	2031351	\N	\N	EFO	4	EFO	disposition	neuromuscular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001902	"A neuropathy that affect the nerves that control the voluntary muscles." []	3181945	\N	\N	EFO	5	EFO	material property	neuromuscular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001902	"A neuropathy that affect the nerves that control the voluntary muscles." []	4390136	\N	\N	EFO	6	EFO	experimental factor	neuromuscular disease
EFO:1001903	\N	\N	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	EFO:1001903	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	71249	\N	\N	EFO	0	EFO	nosophobia	nosophobia
EFO:1001918	EFO:1001903	\N	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	EFO:1001903	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	213809	\N	\N	EFO	1	EFO	specific phobia	nosophobia
EFO:1001908	EFO:1001918	\N	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	EFO:1001903	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	567687	\N	\N	EFO	2	EFO	phobic disorder	nosophobia
EFO:0006788	EFO:1001908	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001903	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	1149134	\N	\N	EFO	3	EFO	anxiety disorder	nosophobia
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001903	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	2031352	\N	\N	EFO	4	EFO	mental or behavioural disorder	nosophobia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001903	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	3181946	\N	\N	EFO	5	EFO	brain disease	nosophobia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001903	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	4390137	\N	\N	EFO	6	EFO	nervous system disease	nosophobia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001903	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	5409582	\N	\N	EFO	7	EFO	disease	nosophobia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001903	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	6147699	\N	\N	EFO	8	EFO	disposition	nosophobia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001903	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	6631893	\N	\N	EFO	9	EFO	material property	nosophobia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001903	"Nosophobia is the irrational fear of contracting a disease, a type of specific phobia. Primary fears of this kind are fear of contracting pulmonary tuberculosis, venereal diseases, cancer, and heart diseases." []	6925327	\N	\N	EFO	10	EFO	experimental factor	nosophobia
EFO:1001904	\N	\N	"Inflammation of the mucous membranes of any of the structures in the mouth." []	EFO:1001904	"Inflammation of the mucous membranes of any of the structures in the mouth." []	71250	\N	\N	EFO	0	EFO	oral mucositis	oral mucositis
EFO:1001898	EFO:1001904	\N	"Mucositis is inflammation and damage of the mucous membranes lining the mouth and other parts of the gastrointestinal (GI) tract." []	EFO:1001904	"Inflammation of the mucous membranes of any of the structures in the mouth." []	213810	\N	\N	EFO	1	EFO	mucositis	oral mucositis
MP:0001845	EFO:1001898	\N	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	EFO:1001904	"Inflammation of the mucous membranes of any of the structures in the mouth." []	567688	\N	\N	EFO	2	EFO	inflammation	oral mucositis
EFO:1001905	\N	\N	"A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi)." []	EFO:1001905	"A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi)." []	71251	\N	\N	EFO	0	EFO	Oxidative Stress	Oxidative Stress
GO:0044237	\N	\N	"The chemical reactions and pathways by which individual cells transform chemical substances." [GOC:go_curators]	EFO:1001905	"A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi)." []	194960	\N	goslim_pir,gosubset_prok	EFO	0	EFO	cellular metabolic process	Oxidative Stress
EFO:1001906	\N	\N	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." []	EFO:1001906	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." []	71252	\N	\N	EFO	0	EFO	panic disorder with agoraphobia	panic disorder with agoraphobia
EFO:0004262	EFO:1001906	\N	"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." []	EFO:1001906	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." []	213811	\N	\N	EFO	1	EFO	panic disorder	panic disorder with agoraphobia
EFO:0006788	EFO:0004262	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001906	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." []	567689	\N	\N	EFO	2	EFO	anxiety disorder	panic disorder with agoraphobia
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001906	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." []	1149135	\N	\N	EFO	3	EFO	mental or behavioural disorder	panic disorder with agoraphobia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001906	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." []	2031353	\N	\N	EFO	4	EFO	brain disease	panic disorder with agoraphobia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001906	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." []	3181947	\N	\N	EFO	5	EFO	nervous system disease	panic disorder with agoraphobia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001906	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." []	4390138	\N	\N	EFO	6	EFO	disease	panic disorder with agoraphobia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001906	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." []	5409583	\N	\N	EFO	7	EFO	disposition	panic disorder with agoraphobia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001906	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." []	6147700	\N	\N	EFO	8	EFO	material property	panic disorder with agoraphobia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001906	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." []	6631894	\N	\N	EFO	9	EFO	experimental factor	panic disorder with agoraphobia
EFO:1001907	\N	\N	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." []	EFO:1001907	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." []	71253	\N	\N	EFO	0	EFO	panic disorder without agoraphobia	panic disorder without agoraphobia
EFO:0004262	EFO:1001907	\N	"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait." []	EFO:1001907	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." []	213812	\N	\N	EFO	1	EFO	panic disorder	panic disorder without agoraphobia
EFO:0006788	EFO:0004262	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001907	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." []	567690	\N	\N	EFO	2	EFO	anxiety disorder	panic disorder without agoraphobia
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001907	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." []	1149136	\N	\N	EFO	3	EFO	mental or behavioural disorder	panic disorder without agoraphobia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001907	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." []	2031354	\N	\N	EFO	4	EFO	brain disease	panic disorder without agoraphobia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001907	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." []	3181948	\N	\N	EFO	5	EFO	nervous system disease	panic disorder without agoraphobia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001907	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." []	4390139	\N	\N	EFO	6	EFO	disease	panic disorder without agoraphobia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001907	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." []	5409584	\N	\N	EFO	7	EFO	disposition	panic disorder without agoraphobia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001907	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." []	6147701	\N	\N	EFO	8	EFO	material property	panic disorder without agoraphobia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001907	"A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." []	6631895	\N	\N	EFO	9	EFO	experimental factor	panic disorder without agoraphobia
EFO:1001908	\N	\N	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	EFO:1001908	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	71254	\N	\N	EFO	0	EFO	phobic disorder	phobic disorder
EFO:0006788	EFO:1001908	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001908	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	213813	\N	\N	EFO	1	EFO	anxiety disorder	phobic disorder
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001908	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	567691	\N	\N	EFO	2	EFO	mental or behavioural disorder	phobic disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001908	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	1149137	\N	\N	EFO	3	EFO	brain disease	phobic disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001908	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	2031355	\N	\N	EFO	4	EFO	nervous system disease	phobic disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001908	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	3181949	\N	\N	EFO	5	EFO	disease	phobic disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001908	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	4390140	\N	\N	EFO	6	EFO	disposition	phobic disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001908	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	5409585	\N	\N	EFO	7	EFO	material property	phobic disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001908	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	6147702	\N	\N	EFO	8	EFO	experimental factor	phobic disorder
EFO:1001909	\N	\N	"Inflammation of the plantar fascia (aponeurosis) on the bottom of the foot causing heel pain. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with HEEL SPUR, they do not appear to be causally related." []	EFO:1001909	"Inflammation of the plantar fascia (aponeurosis) on the bottom of the foot causing heel pain. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with HEEL SPUR, they do not appear to be causally related." []	71255	\N	\N	EFO	0	EFO	Plantar Fasciitis	Plantar Fasciitis
HP:0100537	\N	\N	"Inflammation of fascia." [HPO:probinson]	EFO:1001909	"Inflammation of the plantar fascia (aponeurosis) on the bottom of the foot causing heel pain. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with HEEL SPUR, they do not appear to be causally related." []	194961	\N	\N	EFO	0	EFO	Fasciitis	Plantar Fasciitis
EFO:1001910	\N	\N	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	EFO:1001910	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	71256	\N	\N	EFO	0	EFO	pulmonary amyloidosis	pulmonary amyloidosis
EFO:0003818	EFO:1001910	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001910	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	213814	\N	\N	EFO	1	EFO	lung disease	pulmonary amyloidosis
EFO:1001874	EFO:1001910	\N	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	EFO:1001910	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	213815	\N	\N	EFO	1	EFO	amyloidoma	pulmonary amyloidosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001910	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	567692	\N	\N	EFO	2	EFO	respiratory system disease	pulmonary amyloidosis
EFO:1001875	EFO:1001874	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	EFO:1001910	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	567693	\N	\N	EFO	2	EFO	amyloidosis	pulmonary amyloidosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001910	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	1149138	\N	\N	EFO	3	EFO	disease	pulmonary amyloidosis
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	EFO:1001910	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	1149139	\N	\N	EFO	3	EFO	acquired metabolic disease	pulmonary amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001910	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	4390142	\N	\N	EFO	6	EFO	disposition	pulmonary amyloidosis
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001910	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	2031357	\N	\N	EFO	4	EFO	metabolic disease	pulmonary amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001910	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	5059520	\N	\N	EFO	7	EFO	material property	pulmonary amyloidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001910	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	3181951	\N	\N	EFO	5	EFO	disease	pulmonary amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001910	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	5876663	\N	\N	EFO	8	EFO	experimental factor	pulmonary amyloidosis
EFO:1001911	\N	\N	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	71257	\N	\N	EFO	0	EFO	pulmonary nodular amyloidosis	pulmonary nodular amyloidosis
EFO:1001910	EFO:1001911	\N	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	213816	\N	\N	EFO	1	EFO	pulmonary amyloidosis	pulmonary nodular amyloidosis
EFO:0003818	EFO:1001910	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	567694	\N	\N	EFO	2	EFO	lung disease	pulmonary nodular amyloidosis
EFO:1001874	EFO:1001910	\N	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	567695	\N	\N	EFO	2	EFO	amyloidoma	pulmonary nodular amyloidosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	1149140	\N	\N	EFO	3	EFO	respiratory system disease	pulmonary nodular amyloidosis
EFO:1001875	EFO:1001874	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	1149141	\N	\N	EFO	3	EFO	amyloidosis	pulmonary nodular amyloidosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	2031358	\N	\N	EFO	4	EFO	disease	pulmonary nodular amyloidosis
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	2031359	\N	\N	EFO	4	EFO	acquired metabolic disease	pulmonary nodular amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	5409587	\N	\N	EFO	7	EFO	disposition	pulmonary nodular amyloidosis
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	3181953	\N	\N	EFO	5	EFO	metabolic disease	pulmonary nodular amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	5876664	\N	\N	EFO	8	EFO	material property	pulmonary nodular amyloidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	4390144	\N	\N	EFO	6	EFO	disease	pulmonary nodular amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001911	"Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]" []	6469877	\N	\N	EFO	9	EFO	experimental factor	pulmonary nodular amyloidosis
EFO:1001913	\N	\N	"A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock." []	EFO:1001913	"A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock." []	71258	\N	\N	EFO	0	EFO	Purpura Fulminans	Purpura Fulminans
HP:0000979	\N	\N	"Purpura (from Latin: purpura, meaning \\"purple\\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae." [HPO:probinson, PMID:11515831]	EFO:1001913	"A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock." []	194962	\N	hposlim_core	EFO	0	EFO	Purpura	Purpura Fulminans
EFO:1001914	\N	\N	"inflammation and ulceration of the gastrointestinal mucosa as a result of radiation treatment" []	EFO:1001914	"inflammation and ulceration of the gastrointestinal mucosa as a result of radiation treatment" []	71259	\N	\N	EFO	0	EFO	radiation-induced gastrointestinal mucositis	radiation-induced gastrointestinal mucositis
EFO:1001891	EFO:1001914	\N	"" []	EFO:1001914	"inflammation and ulceration of the gastrointestinal mucosa as a result of radiation treatment" []	213817	\N	\N	EFO	1	EFO	gastrointestinal mucositis	radiation-induced gastrointestinal mucositis
EFO:1001898	EFO:1001891	\N	"Mucositis is inflammation and damage of the mucous membranes lining the mouth and other parts of the gastrointestinal (GI) tract." []	EFO:1001914	"inflammation and ulceration of the gastrointestinal mucosa as a result of radiation treatment" []	567696	\N	\N	EFO	2	EFO	mucositis	radiation-induced gastrointestinal mucositis
MP:0001845	EFO:1001898	\N	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	EFO:1001914	"inflammation and ulceration of the gastrointestinal mucosa as a result of radiation treatment" []	1149142	\N	\N	EFO	3	EFO	inflammation	radiation-induced gastrointestinal mucositis
EFO:1001916	\N	\N	"Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)." []	EFO:1001916	"Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)." []	71260	\N	\N	EFO	0	EFO	separation anxiety disorder	separation anxiety disorder
EFO:0006788	EFO:1001916	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001916	"Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)." []	213818	\N	\N	EFO	1	EFO	anxiety disorder	separation anxiety disorder
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001916	"Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)." []	567697	\N	\N	EFO	2	EFO	mental or behavioural disorder	separation anxiety disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001916	"Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)." []	1149143	\N	\N	EFO	3	EFO	brain disease	separation anxiety disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001916	"Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)." []	2031360	\N	\N	EFO	4	EFO	nervous system disease	separation anxiety disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001916	"Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)." []	3181954	\N	\N	EFO	5	EFO	disease	separation anxiety disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001916	"Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)." []	4390145	\N	\N	EFO	6	EFO	disposition	separation anxiety disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001916	"Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)." []	5409588	\N	\N	EFO	7	EFO	material property	separation anxiety disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001916	"Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)." []	6147703	\N	\N	EFO	8	EFO	experimental factor	separation anxiety disorder
EFO:1001917	\N	\N	"Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." []	EFO:1001917	"Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." []	71261	\N	\N	EFO	0	EFO	social anxiety disorder	social anxiety disorder
EFO:1001908	EFO:1001917	\N	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	EFO:1001917	"Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." []	213819	\N	\N	EFO	1	EFO	phobic disorder	social anxiety disorder
EFO:0006788	EFO:1001908	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001917	"Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." []	567698	\N	\N	EFO	2	EFO	anxiety disorder	social anxiety disorder
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001917	"Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." []	1149144	\N	\N	EFO	3	EFO	mental or behavioural disorder	social anxiety disorder
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001917	"Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." []	2031361	\N	\N	EFO	4	EFO	brain disease	social anxiety disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001917	"Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." []	3181955	\N	\N	EFO	5	EFO	nervous system disease	social anxiety disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001917	"Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." []	4390146	\N	\N	EFO	6	EFO	disease	social anxiety disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001917	"Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." []	5409589	\N	\N	EFO	7	EFO	disposition	social anxiety disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001917	"Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." []	6147704	\N	\N	EFO	8	EFO	material property	social anxiety disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001917	"Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life." []	6631896	\N	\N	EFO	9	EFO	experimental factor	social anxiety disorder
EFO:1001918	\N	\N	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	EFO:1001918	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	71262	\N	\N	EFO	0	EFO	specific phobia	specific phobia
EFO:1001908	EFO:1001918	\N	"A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." []	EFO:1001918	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	213820	\N	\N	EFO	1	EFO	phobic disorder	specific phobia
EFO:0006788	EFO:1001908	\N	"A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." []	EFO:1001918	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	567699	\N	\N	EFO	2	EFO	anxiety disorder	specific phobia
EFO:0000677	EFO:0006788	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001918	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	1149145	\N	\N	EFO	3	EFO	mental or behavioural disorder	specific phobia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001918	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	2031362	\N	\N	EFO	4	EFO	brain disease	specific phobia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001918	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	3181956	\N	\N	EFO	5	EFO	nervous system disease	specific phobia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001918	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	4390147	\N	\N	EFO	6	EFO	disease	specific phobia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001918	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	5409590	\N	\N	EFO	7	EFO	disposition	specific phobia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001918	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	6147705	\N	\N	EFO	8	EFO	material property	specific phobia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001918	"A specific phobia is any kind of anxiety disorder that amounts to an unreasonable or irrational fear related to exposure to specific objects or situations. As a result, the affected person tends to actively avoid direct contact with the objects or situations and, in severe cases, any mention or depiction of them. The fear can, in fact, be disabling to their daily lives." []	6631897	\N	\N	EFO	9	EFO	experimental factor	specific phobia
EFO:1001919	\N	\N	"Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces." []	EFO:1001919	"Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces." []	71263	\N	\N	EFO	0	EFO	Spinal cord injury	Spinal cord injury
EFO:0000546	EFO:1001919	\N	"Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." []	EFO:1001919	"Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces." []	213821	\N	\N	EFO	1	EFO	injury	Spinal cord injury
BFO:0000016	EFO:0000546	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001919	"Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces." []	567700	\N	\N	EFO	2	EFO	disposition	Spinal cord injury
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001919	"Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces." []	1149146	\N	\N	EFO	3	EFO	material property	Spinal cord injury
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001919	"Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces." []	2031363	\N	\N	EFO	4	EFO	experimental factor	Spinal cord injury
EFO:1001920	\N	\N	"" []	EFO:1001920	"" []	71264	\N	\N	EFO	0	EFO	stress-induced anxiety-like behavior	stress-induced anxiety-like behavior
GO:0007610	\N	\N	"The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity." [GOC:ems, GOC:jl, ISBN:0395448956, PMID:20160973]	EFO:1001920	"" []	194963	\N	gocheck_do_not_manually_annotate,goslim_agr,goslim_plant,gosubset_prok	EFO	0	EFO	behavior	stress-induced anxiety-like behavior
EFO:1001922	\N	\N	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	71265	\N	\N	EFO	0	EFO	tracheobronchial amyloidosis	tracheobronchial amyloidosis
EFO:1001910	EFO:1001922	\N	"Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]" []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	213822	\N	\N	EFO	1	EFO	pulmonary amyloidosis	tracheobronchial amyloidosis
EFO:0003818	EFO:1001910	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	567701	\N	\N	EFO	2	EFO	lung disease	tracheobronchial amyloidosis
EFO:1001874	EFO:1001910	\N	"Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good." []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	567702	\N	\N	EFO	2	EFO	amyloidoma	tracheobronchial amyloidosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	1149147	\N	\N	EFO	3	EFO	respiratory system disease	tracheobronchial amyloidosis
EFO:1001875	EFO:1001874	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	1149148	\N	\N	EFO	3	EFO	amyloidosis	tracheobronchial amyloidosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	2031364	\N	\N	EFO	4	EFO	disease	tracheobronchial amyloidosis
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	2031365	\N	\N	EFO	4	EFO	acquired metabolic disease	tracheobronchial amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	5409592	\N	\N	EFO	7	EFO	disposition	tracheobronchial amyloidosis
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	3181958	\N	\N	EFO	5	EFO	metabolic disease	tracheobronchial amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	5876665	\N	\N	EFO	8	EFO	material property	tracheobronchial amyloidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	4390149	\N	\N	EFO	6	EFO	disease	tracheobronchial amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001922	"Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]" []	6469878	\N	\N	EFO	9	EFO	experimental factor	tracheobronchial amyloidosis
EFO:1001923	\N	\N	"Skin breakdown or ulceration in the drainage area of a VARICOSE VEIN, usually in the leg." []	EFO:1001923	"Skin breakdown or ulceration in the drainage area of a VARICOSE VEIN, usually in the leg." []	71266	\N	\N	EFO	0	EFO	varicose ulcer	varicose ulcer
HP:0002619	\N	\N	"Enlarged and tortuous veins." [HPO:probinson]	EFO:1001923	"Skin breakdown or ulceration in the drainage area of a VARICOSE VEIN, usually in the leg." []	194964	\N	\N	EFO	0	EFO	Varicose veins	varicose ulcer
EFO:1001925	\N	\N	"Presence of pneumococcus bacteria in the blood" []	EFO:1001925	"Presence of pneumococcus bacteria in the blood" []	71267	\N	\N	EFO	0	EFO	pneumococcal bacteremia	pneumococcal bacteremia
EFO:0003033	EFO:1001925	\N	"Bacteremia (also bacteraemia) is the presence of bacteria in the blood. Blood is normally a sterile environment, so the detection of bacteria in the blood (most commonly accomplished by blood cultures) is always abnormal. Bacteria can enter the bloodstream as a severe complication of infections (like pneumonia or meningitis), during surgery (especially when involving mucous membranes such as the gastrointestinal tract), or due to catheters and other foreign bodies entering the arteries or veins (including during intravenous drug abuse).\\n\\nBacteremia can have several consequences. The immune response to the bacteria can cause sepsis and septic shock, which has a relatively high mortality rate. Bacteria can also use the blood to spread to other parts of the body (which is called hematogenous spread), causing infections away from the original site of infection. Examples include endocarditis or osteomyelitis. Treatment is with antibiotics, and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected." []	EFO:1001925	"Presence of pneumococcus bacteria in the blood" []	213823	\N	\N	EFO	1	EFO	bacteriemia	pneumococcal bacteremia
EFO:0000771	EFO:0003033	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	EFO:1001925	"Presence of pneumococcus bacteria in the blood" []	567703	\N	\N	EFO	2	EFO	bacterial disease	pneumococcal bacteremia
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001925	"Presence of pneumococcus bacteria in the blood" []	1149149	\N	\N	EFO	3	EFO	infectious disease	pneumococcal bacteremia
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001925	"Presence of pneumococcus bacteria in the blood" []	2031366	\N	\N	EFO	4	EFO	disease	pneumococcal bacteremia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001925	"Presence of pneumococcus bacteria in the blood" []	3181959	\N	\N	EFO	5	EFO	disposition	pneumococcal bacteremia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001925	"Presence of pneumococcus bacteria in the blood" []	4390150	\N	\N	EFO	6	EFO	material property	pneumococcal bacteremia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001925	"Presence of pneumococcus bacteria in the blood" []	5409593	\N	\N	EFO	7	EFO	experimental factor	pneumococcal bacteremia
EFO:1001926	\N	\N	"An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]" []	EFO:1001926	"An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]" []	71268	\N	\N	EFO	0	EFO	pathological gambling	pathological gambling
EFO:0000677	EFO:1001926	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1001926	"An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]" []	213824	\N	\N	EFO	1	EFO	mental or behavioural disorder	pathological gambling
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1001926	"An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]" []	567704	\N	\N	EFO	2	EFO	brain disease	pathological gambling
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001926	"An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]" []	1149150	\N	\N	EFO	3	EFO	nervous system disease	pathological gambling
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001926	"An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]" []	2031367	\N	\N	EFO	4	EFO	disease	pathological gambling
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001926	"An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]" []	3181960	\N	\N	EFO	5	EFO	disposition	pathological gambling
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001926	"An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]" []	4390151	\N	\N	EFO	6	EFO	material property	pathological gambling
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001926	"An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]" []	5409594	\N	\N	EFO	7	EFO	experimental factor	pathological gambling
EFO:1001927	\N	\N	"squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" []	EFO:1001927	"squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" []	71269	\N	\N	EFO	0	EFO	cutaneous squamous cell carcinoma	cutaneous squamous cell carcinoma
EFO:0000707	EFO:1001927	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1001927	"squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" []	213825	\N	\N	EFO	1	EFO	squamous cell carcinoma	cutaneous squamous cell carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001927	"squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" []	567705	\N	\N	EFO	2	EFO	carcinoma	cutaneous squamous cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001927	"squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" []	1149151	\N	\N	EFO	3	EFO	cancer	cutaneous squamous cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001927	"squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" []	1149152	\N	\N	EFO	3	EFO	epithelial neoplasm	cutaneous squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001927	"squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" []	2031368	\N	\N	EFO	4	EFO	neoplasm	cutaneous squamous cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001927	"squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" []	2031369	\N	\N	EFO	4	EFO	neoplasm	cutaneous squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001927	"squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" []	3181961	\N	\N	EFO	5	EFO	disease	cutaneous squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001927	"squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" []	4390152	\N	\N	EFO	6	EFO	disposition	cutaneous squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001927	"squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" []	5409595	\N	\N	EFO	7	EFO	material property	cutaneous squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001927	"squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians" []	6147706	\N	\N	EFO	8	EFO	experimental factor	cutaneous squamous cell carcinoma
EFO:1001928	\N	\N	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	71270	\N	\N	EFO	0	EFO	small intestine neuroendocrine tumor	small intestine neuroendocrine tumor
EFO:0005588	EFO:1001928	\N	"A small intestine cancer that develops from epithelial cells and is located_in the small intestine." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	213826	\N	\N	EFO	1	EFO	small intestine carcinoma	small intestine neuroendocrine tumor
EFO:1001901	EFO:1001928	\N	"A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	213827	\N	\N	EFO	1	EFO	neuroendocrine neoplasm	small intestine neuroendocrine tumor
EFO:0000313	EFO:0005588	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	567706	\N	\N	EFO	2	EFO	carcinoma	small intestine neuroendocrine tumor
EFO:0000405	EFO:0005588	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	567707	\N	\N	EFO	2	EFO	digestive system disease	small intestine neuroendocrine tumor
EFO:0003769	EFO:1001901	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	567708	\N	\N	EFO	2	EFO	endocrine neoplasm	small intestine neuroendocrine tumor
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	1149153	\N	\N	EFO	3	EFO	cancer	small intestine neuroendocrine tumor
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	1149154	\N	\N	EFO	3	EFO	epithelial neoplasm	small intestine neuroendocrine tumor
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	1149155	\N	\N	EFO	3	EFO	disease	small intestine neuroendocrine tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	1149156	\N	\N	EFO	3	EFO	neoplasm	small intestine neuroendocrine tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	1149157	\N	\N	EFO	3	EFO	endocrine system disease	small intestine neuroendocrine tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	2031370	\N	\N	EFO	4	EFO	neoplasm	small intestine neuroendocrine tumor
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	2031371	\N	\N	EFO	4	EFO	neoplasm	small intestine neuroendocrine tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	4133154	\N	\N	EFO	6	EFO	disposition	small intestine neuroendocrine tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	3181962	\N	\N	EFO	5	EFO	disease	small intestine neuroendocrine tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	2031374	\N	\N	EFO	4	EFO	disease	small intestine neuroendocrine tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	5059521	\N	\N	EFO	7	EFO	material property	small intestine neuroendocrine tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001928	"a tumor with neuroendocrine differentiation that arises from the small intestine" []	5876666	\N	\N	EFO	8	EFO	experimental factor	small intestine neuroendocrine tumor
EFO:1001929	\N	\N	"A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." []	EFO:1001929	"A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." []	71271	\N	\N	EFO	0	EFO	selective IgA deficiency disease	selective IgA deficiency disease
EFO:0000540	EFO:1001929	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001929	"A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." []	213828	\N	\N	EFO	1	EFO	immune system disease	selective IgA deficiency disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001929	"A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." []	567709	\N	\N	EFO	2	EFO	disease	selective IgA deficiency disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001929	"A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." []	1149158	\N	\N	EFO	3	EFO	disposition	selective IgA deficiency disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001929	"A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." []	2031375	\N	\N	EFO	4	EFO	material property	selective IgA deficiency disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001929	"A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." []	3181965	\N	\N	EFO	5	EFO	experimental factor	selective IgA deficiency disease
EFO:1001930	\N	\N	"Most common form of osteonecrosis, the death of bone tissue following microvascular injury. Osteonecrosis of the femoral head (ONFH) is a complex multifactorial disease that is associated with genetic predisposition and exposure to certain environmental factors. Various etiological factors, including the use of corticosteroids, alcohol abuse, sickle cell anemia, radiation and Gaucher disease, are known to be implicated in the development of secondary osteonecrosis." []	EFO:1001930	"Most common form of osteonecrosis, the death of bone tissue following microvascular injury. Osteonecrosis of the femoral head (ONFH) is a complex multifactorial disease that is associated with genetic predisposition and exposure to certain environmental factors. Various etiological factors, including the use of corticosteroids, alcohol abuse, sickle cell anemia, radiation and Gaucher disease, are known to be implicated in the development of secondary osteonecrosis." []	71272	\N	\N	EFO	0	EFO	idiopathic osteonecrosis of the femoral head	idiopathic osteonecrosis of the femoral head
EFO:0004259	EFO:1001930	\N	"Death of a bone or part of a bone, either atraumatic or posttraumatic." []	EFO:1001930	"Most common form of osteonecrosis, the death of bone tissue following microvascular injury. Osteonecrosis of the femoral head (ONFH) is a complex multifactorial disease that is associated with genetic predisposition and exposure to certain environmental factors. Various etiological factors, including the use of corticosteroids, alcohol abuse, sickle cell anemia, radiation and Gaucher disease, are known to be implicated in the development of secondary osteonecrosis." []	213829	\N	\N	EFO	1	EFO	osteonecrosis	idiopathic osteonecrosis of the femoral head
EFO:0004260	EFO:0004259	\N	"Diseases of BONES." []	EFO:1001930	"Most common form of osteonecrosis, the death of bone tissue following microvascular injury. Osteonecrosis of the femoral head (ONFH) is a complex multifactorial disease that is associated with genetic predisposition and exposure to certain environmental factors. Various etiological factors, including the use of corticosteroids, alcohol abuse, sickle cell anemia, radiation and Gaucher disease, are known to be implicated in the development of secondary osteonecrosis." []	567710	\N	\N	EFO	2	EFO	bone disease	idiopathic osteonecrosis of the femoral head
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1001930	"Most common form of osteonecrosis, the death of bone tissue following microvascular injury. Osteonecrosis of the femoral head (ONFH) is a complex multifactorial disease that is associated with genetic predisposition and exposure to certain environmental factors. Various etiological factors, including the use of corticosteroids, alcohol abuse, sickle cell anemia, radiation and Gaucher disease, are known to be implicated in the development of secondary osteonecrosis." []	1149159	\N	\N	EFO	3	EFO	skeletal system disease	idiopathic osteonecrosis of the femoral head
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001930	"Most common form of osteonecrosis, the death of bone tissue following microvascular injury. Osteonecrosis of the femoral head (ONFH) is a complex multifactorial disease that is associated with genetic predisposition and exposure to certain environmental factors. Various etiological factors, including the use of corticosteroids, alcohol abuse, sickle cell anemia, radiation and Gaucher disease, are known to be implicated in the development of secondary osteonecrosis." []	2031376	\N	\N	EFO	4	EFO	disease	idiopathic osteonecrosis of the femoral head
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001930	"Most common form of osteonecrosis, the death of bone tissue following microvascular injury. Osteonecrosis of the femoral head (ONFH) is a complex multifactorial disease that is associated with genetic predisposition and exposure to certain environmental factors. Various etiological factors, including the use of corticosteroids, alcohol abuse, sickle cell anemia, radiation and Gaucher disease, are known to be implicated in the development of secondary osteonecrosis." []	3181966	\N	\N	EFO	5	EFO	disposition	idiopathic osteonecrosis of the femoral head
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001930	"Most common form of osteonecrosis, the death of bone tissue following microvascular injury. Osteonecrosis of the femoral head (ONFH) is a complex multifactorial disease that is associated with genetic predisposition and exposure to certain environmental factors. Various etiological factors, including the use of corticosteroids, alcohol abuse, sickle cell anemia, radiation and Gaucher disease, are known to be implicated in the development of secondary osteonecrosis." []	4390154	\N	\N	EFO	6	EFO	material property	idiopathic osteonecrosis of the femoral head
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001930	"Most common form of osteonecrosis, the death of bone tissue following microvascular injury. Osteonecrosis of the femoral head (ONFH) is a complex multifactorial disease that is associated with genetic predisposition and exposure to certain environmental factors. Various etiological factors, including the use of corticosteroids, alcohol abuse, sickle cell anemia, radiation and Gaucher disease, are known to be implicated in the development of secondary osteonecrosis." []	5409596	\N	\N	EFO	7	EFO	experimental factor	idiopathic osteonecrosis of the femoral head
EFO:1001931	\N	\N	"A pharynx cancer that is located_in the oropharynx." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	71273	\N	\N	EFO	0	EFO	oropharynx cancer	oropharynx cancer
EFO:0005577	EFO:1001931	\N	"A primary or metastatic malignant neoplasm that affects the pharynx." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	213830	\N	\N	EFO	1	EFO	pharynx cancer	oropharynx cancer
EFO:0000311	EFO:0005577	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	567711	\N	\N	EFO	2	EFO	cancer	oropharynx cancer
EFO:0000405	EFO:0005577	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	567712	\N	\N	EFO	2	EFO	digestive system disease	oropharynx cancer
EFO:0003853	EFO:0005577	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	567713	\N	\N	EFO	2	EFO	respiratory system neoplasm	oropharynx cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	1149160	\N	\N	EFO	3	EFO	neoplasm	oropharynx cancer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	1149161	\N	\N	EFO	3	EFO	disease	oropharynx cancer
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	1149162	\N	\N	EFO	3	EFO	neoplasm	oropharynx cancer
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	1149163	\N	\N	EFO	3	EFO	respiratory system disease	oropharynx cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	2031377	\N	\N	EFO	4	EFO	disease	oropharynx cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	3181967	\N	\N	EFO	5	EFO	disposition	oropharynx cancer
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	2031379	\N	\N	EFO	4	EFO	disease	oropharynx cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	4133155	\N	\N	EFO	6	EFO	material property	oropharynx cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001931	"A pharynx cancer that is located_in the oropharynx." []	5181381	\N	\N	EFO	7	EFO	experimental factor	oropharynx cancer
EFO:1001932	\N	\N	"An acute megakaryoblastic leukemia occurring in adults." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	71274	\N	\N	EFO	0	EFO	adult acute megakaryoblastic leukemia	adult acute megakaryoblastic leukemia
EFO:0000319	EFO:1001932	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	213831	\N	\N	EFO	1	EFO	cardiovascular disease	adult acute megakaryoblastic leukemia
EFO:0003025	EFO:1001932	\N	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	213832	\N	\N	EFO	1	EFO	acute megakaryoblastic leukaemia	adult acute megakaryoblastic leukemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	567714	\N	\N	EFO	2	EFO	disease	adult acute megakaryoblastic leukemia
EFO:0000222	EFO:0003025	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	567715	\N	\N	EFO	2	EFO	acute myeloid leukemia	adult acute megakaryoblastic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	6550426	\N	\N	EFO	9	EFO	disposition	adult acute megakaryoblastic leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	1149165	\N	\N	EFO	3	EFO	myeloid neoplasm	adult acute megakaryoblastic leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	1149166	\N	\N	EFO	3	EFO	Acute Leukemia	adult acute megakaryoblastic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	6758553	\N	\N	EFO	10	EFO	material property	adult acute megakaryoblastic leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	2031381	\N	\N	EFO	4	EFO	lymphoid neoplasm	adult acute megakaryoblastic leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	2031382	\N	\N	EFO	4	EFO	leukemia	adult acute megakaryoblastic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	7008621	\N	\N	EFO	11	EFO	experimental factor	adult acute megakaryoblastic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	4390158	\N	\N	EFO	6	EFO	cancer	adult acute megakaryoblastic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	4390159	\N	\N	EFO	6	EFO	hematological system disease	adult acute megakaryoblastic leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	3181972	\N	\N	EFO	5	EFO	lymphoid neoplasm	adult acute megakaryoblastic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	5181382	\N	\N	EFO	7	EFO	neoplasm	adult acute megakaryoblastic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	5181383	\N	\N	EFO	7	EFO	disease	adult acute megakaryoblastic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001932	"An acute megakaryoblastic leukemia occurring in adults." []	5996783	\N	\N	EFO	8	EFO	disease	adult acute megakaryoblastic leukemia
EFO:1001933	\N	\N	"An acute monocytic leukemia occurring in adults." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	71275	\N	\N	EFO	0	EFO	adult acute monocytic leukemia	adult acute monocytic leukemia
EFO:0000221	EFO:1001933	\N	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	213833	\N	\N	EFO	1	EFO	acute monocytic leukemia	adult acute monocytic leukemia
EFO:0000319	EFO:1001933	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	213834	\N	\N	EFO	1	EFO	cardiovascular disease	adult acute monocytic leukemia
EFO:0000222	EFO:0000221	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	567716	\N	\N	EFO	2	EFO	acute myeloid leukemia	adult acute monocytic leukemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	567717	\N	\N	EFO	2	EFO	disease	adult acute monocytic leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	1149167	\N	\N	EFO	3	EFO	myeloid neoplasm	adult acute monocytic leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	1149168	\N	\N	EFO	3	EFO	Acute Leukemia	adult acute monocytic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	6550427	\N	\N	EFO	9	EFO	disposition	adult acute monocytic leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	2031383	\N	\N	EFO	4	EFO	lymphoid neoplasm	adult acute monocytic leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	2031384	\N	\N	EFO	4	EFO	leukemia	adult acute monocytic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	6758554	\N	\N	EFO	10	EFO	material property	adult acute monocytic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	4390162	\N	\N	EFO	6	EFO	cancer	adult acute monocytic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	4390163	\N	\N	EFO	6	EFO	hematological system disease	adult acute monocytic leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	3181975	\N	\N	EFO	5	EFO	lymphoid neoplasm	adult acute monocytic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	7008622	\N	\N	EFO	11	EFO	experimental factor	adult acute monocytic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	5181384	\N	\N	EFO	7	EFO	neoplasm	adult acute monocytic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	5181385	\N	\N	EFO	7	EFO	disease	adult acute monocytic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001933	"An acute monocytic leukemia occurring in adults." []	5996785	\N	\N	EFO	8	EFO	disease	adult acute monocytic leukemia
EFO:1001934	\N	\N	"An acute myeloid leukemia occurring in adults." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	71276	\N	\N	EFO	0	EFO	adult acute myeloid leukemia	adult acute myeloid leukemia
EFO:0000222	EFO:1001934	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	213835	\N	\N	EFO	1	EFO	acute myeloid leukemia	adult acute myeloid leukemia
EFO:0000319	EFO:1001934	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	213836	\N	\N	EFO	1	EFO	cardiovascular disease	adult acute myeloid leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	567718	\N	\N	EFO	2	EFO	myeloid neoplasm	adult acute myeloid leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	567719	\N	\N	EFO	2	EFO	Acute Leukemia	adult acute myeloid leukemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	567720	\N	\N	EFO	2	EFO	disease	adult acute myeloid leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	1149170	\N	\N	EFO	3	EFO	lymphoid neoplasm	adult acute myeloid leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	1149171	\N	\N	EFO	3	EFO	leukemia	adult acute myeloid leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	5996787	\N	\N	EFO	8	EFO	disposition	adult acute myeloid leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	3181979	\N	\N	EFO	5	EFO	cancer	adult acute myeloid leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	3181980	\N	\N	EFO	5	EFO	hematological system disease	adult acute myeloid leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	2031388	\N	\N	EFO	4	EFO	lymphoid neoplasm	adult acute myeloid leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	6370810	\N	\N	EFO	9	EFO	material property	adult acute myeloid leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	4133156	\N	\N	EFO	6	EFO	neoplasm	adult acute myeloid leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	4133157	\N	\N	EFO	6	EFO	disease	adult acute myeloid leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	6762348	\N	\N	EFO	10	EFO	experimental factor	adult acute myeloid leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001934	"An acute myeloid leukemia occurring in adults." []	5181386	\N	\N	EFO	7	EFO	disease	adult acute myeloid leukemia
EFO:1001935	\N	\N	"An acute B-lymphoblastic leukemia occurring in adults." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	71277	\N	\N	EFO	0	EFO	adult B acute lymphoblastic leukemia	adult B acute lymphoblastic leukemia
EFO:0000094	EFO:1001935	\N	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	213837	\N	\N	EFO	1	EFO	B-cell acute lymphoblastic leukemia	adult B acute lymphoblastic leukemia
EFO:0000319	EFO:1001935	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	213838	\N	\N	EFO	1	EFO	cardiovascular disease	adult B acute lymphoblastic leukemia
EFO:0000220	EFO:0000094	\N	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	567721	\N	\N	EFO	2	EFO	acute lymphoblastic leukemia	adult B acute lymphoblastic leukemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	567722	\N	\N	EFO	2	EFO	disease	adult B acute lymphoblastic leukemia
EFO:0002425	EFO:0000220	\N	"a neoplasm arising from immature B and T cells" []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	1149173	\N	\N	EFO	3	EFO	neoplasm of immature B and T cells	adult B acute lymphoblastic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	6147707	\N	\N	EFO	8	EFO	disposition	adult B acute lymphoblastic leukemia
EFO:0001642	EFO:0002425	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	2031390	\N	\N	EFO	4	EFO	lymphoid neoplasm	adult B acute lymphoblastic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	6370811	\N	\N	EFO	9	EFO	material property	adult B acute lymphoblastic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	3181982	\N	\N	EFO	5	EFO	cancer	adult B acute lymphoblastic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	3181983	\N	\N	EFO	5	EFO	hematological system disease	adult B acute lymphoblastic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	6762349	\N	\N	EFO	10	EFO	experimental factor	adult B acute lymphoblastic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	4390166	\N	\N	EFO	6	EFO	neoplasm	adult B acute lymphoblastic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	4390167	\N	\N	EFO	6	EFO	disease	adult B acute lymphoblastic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001935	"An acute B-lymphoblastic leukemia occurring in adults." []	5409601	\N	\N	EFO	7	EFO	disease	adult B acute lymphoblastic leukemia
EFO:1001936	\N	\N	"An acute T-lymphoblastic leukemia occurring in adults." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	71278	\N	\N	EFO	0	EFO	adult T acute lymphoblastic leukemia	adult T acute lymphoblastic leukemia
EFO:0000209	EFO:1001936	\N	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	213839	\N	\N	EFO	1	EFO	T-cell acute lymphoblastic leukemia	adult T acute lymphoblastic leukemia
EFO:0000319	EFO:1001936	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	213840	\N	\N	EFO	1	EFO	cardiovascular disease	adult T acute lymphoblastic leukemia
EFO:0000220	EFO:0000209	\N	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	567723	\N	\N	EFO	2	EFO	acute lymphoblastic leukemia	adult T acute lymphoblastic leukemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	567724	\N	\N	EFO	2	EFO	disease	adult T acute lymphoblastic leukemia
EFO:0002425	EFO:0000220	\N	"a neoplasm arising from immature B and T cells" []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	1149175	\N	\N	EFO	3	EFO	neoplasm of immature B and T cells	adult T acute lymphoblastic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	6147708	\N	\N	EFO	8	EFO	disposition	adult T acute lymphoblastic leukemia
EFO:0001642	EFO:0002425	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	2031392	\N	\N	EFO	4	EFO	lymphoid neoplasm	adult T acute lymphoblastic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	6370812	\N	\N	EFO	9	EFO	material property	adult T acute lymphoblastic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	3181985	\N	\N	EFO	5	EFO	cancer	adult T acute lymphoblastic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	3181986	\N	\N	EFO	5	EFO	hematological system disease	adult T acute lymphoblastic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	6762350	\N	\N	EFO	10	EFO	experimental factor	adult T acute lymphoblastic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	4390168	\N	\N	EFO	6	EFO	neoplasm	adult T acute lymphoblastic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	4390169	\N	\N	EFO	6	EFO	disease	adult T acute lymphoblastic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001936	"An acute T-lymphoblastic leukemia occurring in adults." []	5409603	\N	\N	EFO	7	EFO	disease	adult T acute lymphoblastic leukemia
EFO:1001937	\N	\N	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	71279	\N	\N	EFO	0	EFO	amelanotic melanoma	amelanotic melanoma
EFO:0000756	EFO:1001937	\N	"A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	213841	\N	\N	EFO	1	EFO	melanoma	amelanotic melanoma
EFO:0000313	EFO:0000756	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	567725	\N	\N	EFO	2	EFO	carcinoma	amelanotic melanoma
EFO:0004198	EFO:0000756	\N	"Tumors or cancer of the SKIN." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	567726	\N	\N	EFO	2	EFO	skin neoplasm	amelanotic melanoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	1149177	\N	\N	EFO	3	EFO	cancer	amelanotic melanoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	1149178	\N	\N	EFO	3	EFO	epithelial neoplasm	amelanotic melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	1149179	\N	\N	EFO	3	EFO	neoplasm	amelanotic melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	1149180	\N	\N	EFO	3	EFO	skin disease	amelanotic melanoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	2031394	\N	\N	EFO	4	EFO	neoplasm	amelanotic melanoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	2031395	\N	\N	EFO	4	EFO	neoplasm	amelanotic melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	3181988	\N	\N	EFO	5	EFO	disease	amelanotic melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	2031397	\N	\N	EFO	4	EFO	disease	amelanotic melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	4133158	\N	\N	EFO	6	EFO	disposition	amelanotic melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	5181388	\N	\N	EFO	7	EFO	material property	amelanotic melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001937	"A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." []	5996788	\N	\N	EFO	8	EFO	experimental factor	amelanotic melanoma
EFO:1001938	\N	\N	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	71280	\N	\N	EFO	0	EFO	B-cell non-Hodgkins lymphoma	B-cell non-Hodgkins lymphoma
EFO:0005952	EFO:1001938	\N	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	213842	\N	\N	EFO	1	EFO	non-Hodgkins lymphoma	B-cell non-Hodgkins lymphoma
EFO:0007352	EFO:1001938	\N	"a disease in lymphatic system" []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	213843	\N	\N	EFO	1	EFO	lymphatic system disease	B-cell non-Hodgkins lymphoma
EFO:0000574	EFO:0005952	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	567727	\N	\N	EFO	2	EFO	lymphoma	B-cell non-Hodgkins lymphoma
EFO:0005803	EFO:0007352	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	567728	\N	\N	EFO	2	EFO	hematological system disease	B-cell non-Hodgkins lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	1149181	\N	\N	EFO	3	EFO	lymphoid neoplasm	B-cell non-Hodgkins lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	3181991	\N	\N	EFO	5	EFO	disease	B-cell non-Hodgkins lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	2031398	\N	\N	EFO	4	EFO	cancer	B-cell non-Hodgkins lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	2031399	\N	\N	EFO	4	EFO	hematological system disease	B-cell non-Hodgkins lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	5409606	\N	\N	EFO	7	EFO	disposition	B-cell non-Hodgkins lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	3181990	\N	\N	EFO	5	EFO	neoplasm	B-cell non-Hodgkins lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	5817416	\N	\N	EFO	8	EFO	material property	B-cell non-Hodgkins lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	4390171	\N	\N	EFO	6	EFO	disease	B-cell non-Hodgkins lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001938	"The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." []	6409773	\N	\N	EFO	9	EFO	experimental factor	B-cell non-Hodgkins lymphoma
EFO:1001939	\N	\N	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	71281	\N	\N	EFO	0	EFO	Barrett adenocarcinoma	Barrett adenocarcinoma
EFO:0000478	EFO:1001939	\N	"A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	213844	\N	\N	EFO	1	EFO	esophageal adenocarcinoma	Barrett adenocarcinoma
EFO:0000228	EFO:0000478	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	567729	\N	\N	EFO	2	EFO	adenocarcinoma	Barrett adenocarcinoma
EFO:0002916	EFO:0000478	\N	"Tumors or cancer of the ESOPHAGUS." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	567730	\N	\N	EFO	2	EFO	esophageal carcinoma	Barrett adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	1149183	\N	\N	EFO	3	EFO	carcinoma	Barrett adenocarcinoma
EFO:0000313	EFO:0002916	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	1149184	\N	\N	EFO	3	EFO	carcinoma	Barrett adenocarcinoma
EFO:0000405	EFO:0002916	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	1149185	\N	\N	EFO	3	EFO	digestive system disease	Barrett adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	2031401	\N	\N	EFO	4	EFO	cancer	Barrett adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	2031402	\N	\N	EFO	4	EFO	epithelial neoplasm	Barrett adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	2031403	\N	\N	EFO	4	EFO	disease	Barrett adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	3181993	\N	\N	EFO	5	EFO	neoplasm	Barrett adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	3181994	\N	\N	EFO	5	EFO	neoplasm	Barrett adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	5409607	\N	\N	EFO	7	EFO	disposition	Barrett adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	4390173	\N	\N	EFO	6	EFO	disease	Barrett adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	5876668	\N	\N	EFO	8	EFO	material property	Barrett adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001939	"An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." []	6469879	\N	\N	EFO	9	EFO	experimental factor	Barrett adenocarcinoma
EFO:1001940	\N	\N	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	71282	\N	\N	EFO	0	EFO	basaloid squamous cell carcinoma	basaloid squamous cell carcinoma
EFO:0000405	EFO:1001940	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	213845	\N	\N	EFO	1	EFO	digestive system disease	basaloid squamous cell carcinoma
EFO:0000707	EFO:1001940	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	213846	\N	\N	EFO	1	EFO	squamous cell carcinoma	basaloid squamous cell carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	567731	\N	\N	EFO	2	EFO	disease	basaloid squamous cell carcinoma
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	567732	\N	\N	EFO	2	EFO	carcinoma	basaloid squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	4390175	\N	\N	EFO	6	EFO	disposition	basaloid squamous cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	1149187	\N	\N	EFO	3	EFO	cancer	basaloid squamous cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	1149188	\N	\N	EFO	3	EFO	epithelial neoplasm	basaloid squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	5028371	\N	\N	EFO	7	EFO	material property	basaloid squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	2031405	\N	\N	EFO	4	EFO	neoplasm	basaloid squamous cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	2031406	\N	\N	EFO	4	EFO	neoplasm	basaloid squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	5817417	\N	\N	EFO	8	EFO	experimental factor	basaloid squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001940	"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." []	3181997	\N	\N	EFO	5	EFO	disease	basaloid squamous cell carcinoma
EFO:1001941	\N	\N	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	71283	\N	\N	EFO	0	EFO	bronchioloalveolar carcinoma	bronchioloalveolar carcinoma
EFO:0000571	EFO:1001941	\N	"A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	213847	\N	\N	EFO	1	EFO	lung adenocarcinoma	bronchioloalveolar carcinoma
EFO:0001071	EFO:0000571	\N	"Tumors or cancer of the LUNG." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	567733	\N	\N	EFO	2	EFO	lung carcinoma	bronchioloalveolar carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	1149189	\N	\N	EFO	3	EFO	carcinoma	bronchioloalveolar carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	1149190	\N	\N	EFO	3	EFO	lung disease	bronchioloalveolar carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	1149191	\N	\N	EFO	3	EFO	respiratory system neoplasm	bronchioloalveolar carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	2031407	\N	\N	EFO	4	EFO	cancer	bronchioloalveolar carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	2031408	\N	\N	EFO	4	EFO	epithelial neoplasm	bronchioloalveolar carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	2031409	\N	\N	EFO	4	EFO	respiratory system disease	bronchioloalveolar carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	2031410	\N	\N	EFO	4	EFO	neoplasm	bronchioloalveolar carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	2031411	\N	\N	EFO	4	EFO	respiratory system disease	bronchioloalveolar carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	3181998	\N	\N	EFO	5	EFO	neoplasm	bronchioloalveolar carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	3181999	\N	\N	EFO	5	EFO	neoplasm	bronchioloalveolar carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	3182000	\N	\N	EFO	5	EFO	disease	bronchioloalveolar carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	4390176	\N	\N	EFO	6	EFO	disease	bronchioloalveolar carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	5181389	\N	\N	EFO	7	EFO	disposition	bronchioloalveolar carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	5996789	\N	\N	EFO	8	EFO	material property	bronchioloalveolar carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001941	"A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." []	6550428	\N	\N	EFO	9	EFO	experimental factor	bronchioloalveolar carcinoma
EFO:1001942	\N	\N	"A lung carcinoma arising from the bronchial epithelium" []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	71284	\N	\N	EFO	0	EFO	bronchogenic carcinoma	bronchogenic carcinoma
EFO:0001071	EFO:1001942	\N	"Tumors or cancer of the LUNG." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	213848	\N	\N	EFO	1	EFO	lung carcinoma	bronchogenic carcinoma
EFO:0000313	EFO:0001071	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	567734	\N	\N	EFO	2	EFO	carcinoma	bronchogenic carcinoma
EFO:0003818	EFO:0001071	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	567735	\N	\N	EFO	2	EFO	lung disease	bronchogenic carcinoma
EFO:0003853	EFO:0001071	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	567736	\N	\N	EFO	2	EFO	respiratory system neoplasm	bronchogenic carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	1149192	\N	\N	EFO	3	EFO	cancer	bronchogenic carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	1149193	\N	\N	EFO	3	EFO	epithelial neoplasm	bronchogenic carcinoma
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	1149194	\N	\N	EFO	3	EFO	respiratory system disease	bronchogenic carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	1149195	\N	\N	EFO	3	EFO	neoplasm	bronchogenic carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	1149196	\N	\N	EFO	3	EFO	respiratory system disease	bronchogenic carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	2031412	\N	\N	EFO	4	EFO	neoplasm	bronchogenic carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	2031413	\N	\N	EFO	4	EFO	neoplasm	bronchogenic carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	2031414	\N	\N	EFO	4	EFO	disease	bronchogenic carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	3182002	\N	\N	EFO	5	EFO	disease	bronchogenic carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	4133159	\N	\N	EFO	6	EFO	disposition	bronchogenic carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	5181390	\N	\N	EFO	7	EFO	material property	bronchogenic carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001942	"A lung carcinoma arising from the bronchial epithelium" []	5996790	\N	\N	EFO	8	EFO	experimental factor	bronchogenic carcinoma
EFO:1001943	\N	\N	"An acute megakaryoblastic leukemia occurring in children." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	71285	\N	\N	EFO	0	EFO	childhood acute megakaryoblastic leukemia	childhood acute megakaryoblastic leukemia
EFO:0000319	EFO:1001943	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	213849	\N	\N	EFO	1	EFO	cardiovascular disease	childhood acute megakaryoblastic leukemia
EFO:0003025	EFO:1001943	\N	"Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]\\n\\nThis category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.\\n\\nIn the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	213850	\N	\N	EFO	1	EFO	acute megakaryoblastic leukaemia	childhood acute megakaryoblastic leukemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	567737	\N	\N	EFO	2	EFO	disease	childhood acute megakaryoblastic leukemia
EFO:0000222	EFO:0003025	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	567738	\N	\N	EFO	2	EFO	acute myeloid leukemia	childhood acute megakaryoblastic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	6550429	\N	\N	EFO	9	EFO	disposition	childhood acute megakaryoblastic leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	1149198	\N	\N	EFO	3	EFO	myeloid neoplasm	childhood acute megakaryoblastic leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	1149199	\N	\N	EFO	3	EFO	Acute Leukemia	childhood acute megakaryoblastic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	6758555	\N	\N	EFO	10	EFO	material property	childhood acute megakaryoblastic leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	2031417	\N	\N	EFO	4	EFO	lymphoid neoplasm	childhood acute megakaryoblastic leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	2031418	\N	\N	EFO	4	EFO	leukemia	childhood acute megakaryoblastic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	7008623	\N	\N	EFO	11	EFO	experimental factor	childhood acute megakaryoblastic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	4390181	\N	\N	EFO	6	EFO	cancer	childhood acute megakaryoblastic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	4390182	\N	\N	EFO	6	EFO	hematological system disease	childhood acute megakaryoblastic leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	3182007	\N	\N	EFO	5	EFO	lymphoid neoplasm	childhood acute megakaryoblastic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	5181391	\N	\N	EFO	7	EFO	neoplasm	childhood acute megakaryoblastic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	5181392	\N	\N	EFO	7	EFO	disease	childhood acute megakaryoblastic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001943	"An acute megakaryoblastic leukemia occurring in children." []	5996791	\N	\N	EFO	8	EFO	disease	childhood acute megakaryoblastic leukemia
EFO:1001944	\N	\N	"An acute monocytic leukemia occurring in children." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	71286	\N	\N	EFO	0	EFO	childhood acute monocytic leukemia	childhood acute monocytic leukemia
EFO:0000221	EFO:1001944	\N	"An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	213851	\N	\N	EFO	1	EFO	acute monocytic leukemia	childhood acute monocytic leukemia
EFO:0000319	EFO:1001944	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	213852	\N	\N	EFO	1	EFO	cardiovascular disease	childhood acute monocytic leukemia
EFO:0000222	EFO:0000221	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	567739	\N	\N	EFO	2	EFO	acute myeloid leukemia	childhood acute monocytic leukemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	567740	\N	\N	EFO	2	EFO	disease	childhood acute monocytic leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	1149200	\N	\N	EFO	3	EFO	myeloid neoplasm	childhood acute monocytic leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	1149201	\N	\N	EFO	3	EFO	Acute Leukemia	childhood acute monocytic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	6550430	\N	\N	EFO	9	EFO	disposition	childhood acute monocytic leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	2031419	\N	\N	EFO	4	EFO	lymphoid neoplasm	childhood acute monocytic leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	2031420	\N	\N	EFO	4	EFO	leukemia	childhood acute monocytic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	6758556	\N	\N	EFO	10	EFO	material property	childhood acute monocytic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	4390185	\N	\N	EFO	6	EFO	cancer	childhood acute monocytic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	4390186	\N	\N	EFO	6	EFO	hematological system disease	childhood acute monocytic leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	3182010	\N	\N	EFO	5	EFO	lymphoid neoplasm	childhood acute monocytic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	7008624	\N	\N	EFO	11	EFO	experimental factor	childhood acute monocytic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	5181393	\N	\N	EFO	7	EFO	neoplasm	childhood acute monocytic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	5181394	\N	\N	EFO	7	EFO	disease	childhood acute monocytic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001944	"An acute monocytic leukemia occurring in children." []	5996793	\N	\N	EFO	8	EFO	disease	childhood acute monocytic leukemia
EFO:1001945	\N	\N	"An acute myeloid leukemia with maturation occurring in children." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	71287	\N	\N	EFO	0	EFO	childhood acute myeloid leukemia with maturation	childhood acute myeloid leukemia with maturation
EFO:0000319	EFO:1001945	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	213853	\N	\N	EFO	1	EFO	cardiovascular disease	childhood acute myeloid leukemia with maturation
EFO:0003028	EFO:1001945	\N	"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)" []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	213854	\N	\N	EFO	1	EFO	acute myeloblastic leukemia with maturation	childhood acute myeloid leukemia with maturation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	567741	\N	\N	EFO	2	EFO	disease	childhood acute myeloid leukemia with maturation
EFO:0000222	EFO:0003028	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	567742	\N	\N	EFO	2	EFO	acute myeloid leukemia	childhood acute myeloid leukemia with maturation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	6550431	\N	\N	EFO	9	EFO	disposition	childhood acute myeloid leukemia with maturation
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	1149204	\N	\N	EFO	3	EFO	myeloid neoplasm	childhood acute myeloid leukemia with maturation
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	1149205	\N	\N	EFO	3	EFO	Acute Leukemia	childhood acute myeloid leukemia with maturation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	6758557	\N	\N	EFO	10	EFO	material property	childhood acute myeloid leukemia with maturation
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	2031423	\N	\N	EFO	4	EFO	lymphoid neoplasm	childhood acute myeloid leukemia with maturation
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	2031424	\N	\N	EFO	4	EFO	leukemia	childhood acute myeloid leukemia with maturation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	7008625	\N	\N	EFO	11	EFO	experimental factor	childhood acute myeloid leukemia with maturation
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	4390189	\N	\N	EFO	6	EFO	cancer	childhood acute myeloid leukemia with maturation
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	4390190	\N	\N	EFO	6	EFO	hematological system disease	childhood acute myeloid leukemia with maturation
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	3182015	\N	\N	EFO	5	EFO	lymphoid neoplasm	childhood acute myeloid leukemia with maturation
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	5181395	\N	\N	EFO	7	EFO	neoplasm	childhood acute myeloid leukemia with maturation
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	5181396	\N	\N	EFO	7	EFO	disease	childhood acute myeloid leukemia with maturation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001945	"An acute myeloid leukemia with maturation occurring in children." []	5996795	\N	\N	EFO	8	EFO	disease	childhood acute myeloid leukemia with maturation
EFO:1001946	\N	\N	"An acute B-lymphoblastic leukemia occurring in children." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	71288	\N	\N	EFO	0	EFO	childhood B acute lymphoblastic leukemia	childhood B acute lymphoblastic leukemia
EFO:0000094	EFO:1001946	\N	"A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003" []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	213855	\N	\N	EFO	1	EFO	B-cell acute lymphoblastic leukemia	childhood B acute lymphoblastic leukemia
EFO:0000319	EFO:1001946	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	213856	\N	\N	EFO	1	EFO	cardiovascular disease	childhood B acute lymphoblastic leukemia
EFO:0000220	EFO:0000094	\N	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	567743	\N	\N	EFO	2	EFO	acute lymphoblastic leukemia	childhood B acute lymphoblastic leukemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	567744	\N	\N	EFO	2	EFO	disease	childhood B acute lymphoblastic leukemia
EFO:0002425	EFO:0000220	\N	"a neoplasm arising from immature B and T cells" []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	1149206	\N	\N	EFO	3	EFO	neoplasm of immature B and T cells	childhood B acute lymphoblastic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	6147710	\N	\N	EFO	8	EFO	disposition	childhood B acute lymphoblastic leukemia
EFO:0001642	EFO:0002425	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	2031425	\N	\N	EFO	4	EFO	lymphoid neoplasm	childhood B acute lymphoblastic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	6370816	\N	\N	EFO	9	EFO	material property	childhood B acute lymphoblastic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	3182016	\N	\N	EFO	5	EFO	cancer	childhood B acute lymphoblastic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	3182017	\N	\N	EFO	5	EFO	hematological system disease	childhood B acute lymphoblastic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	6762354	\N	\N	EFO	10	EFO	experimental factor	childhood B acute lymphoblastic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	4390191	\N	\N	EFO	6	EFO	neoplasm	childhood B acute lymphoblastic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	4390192	\N	\N	EFO	6	EFO	disease	childhood B acute lymphoblastic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001946	"An acute B-lymphoblastic leukemia occurring in children." []	5409617	\N	\N	EFO	7	EFO	disease	childhood B acute lymphoblastic leukemia
EFO:1001947	\N	\N	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	71289	\N	\N	EFO	0	EFO	childhood T acute lymphoblastic leukemia	childhood T acute lymphoblastic leukemia
EFO:0000209	EFO:1001947	\N	"This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)" []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	213857	\N	\N	EFO	1	EFO	T-cell acute lymphoblastic leukemia	childhood T acute lymphoblastic leukemia
EFO:0000319	EFO:1001947	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	213858	\N	\N	EFO	1	EFO	cardiovascular disease	childhood T acute lymphoblastic leukemia
EFO:0000220	EFO:0000209	\N	"When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term." []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	567745	\N	\N	EFO	2	EFO	acute lymphoblastic leukemia	childhood T acute lymphoblastic leukemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	567746	\N	\N	EFO	2	EFO	disease	childhood T acute lymphoblastic leukemia
EFO:0002425	EFO:0000220	\N	"a neoplasm arising from immature B and T cells" []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	1149208	\N	\N	EFO	3	EFO	neoplasm of immature B and T cells	childhood T acute lymphoblastic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	6147711	\N	\N	EFO	8	EFO	disposition	childhood T acute lymphoblastic leukemia
EFO:0001642	EFO:0002425	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	2031427	\N	\N	EFO	4	EFO	lymphoid neoplasm	childhood T acute lymphoblastic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	6370817	\N	\N	EFO	9	EFO	material property	childhood T acute lymphoblastic leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	3182019	\N	\N	EFO	5	EFO	cancer	childhood T acute lymphoblastic leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	3182020	\N	\N	EFO	5	EFO	hematological system disease	childhood T acute lymphoblastic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	6762355	\N	\N	EFO	10	EFO	experimental factor	childhood T acute lymphoblastic leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	4390193	\N	\N	EFO	6	EFO	neoplasm	childhood T acute lymphoblastic leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	4390194	\N	\N	EFO	6	EFO	disease	childhood T acute lymphoblastic leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001947	"An acute lymphoblastic leukemia of T-cell origin occurring in children" []	5409619	\N	\N	EFO	7	EFO	disease	childhood T acute lymphoblastic leukemia
EFO:1001948	\N	\N	"A T lymphoblastic lymphoma that occurs during childhood." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	71290	\N	\N	EFO	0	EFO	childhood T lymphoblastic lymphoma	childhood T lymphoblastic lymphoma
EFO:0000319	EFO:1001948	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	213859	\N	\N	EFO	1	EFO	cardiovascular disease	childhood T lymphoblastic lymphoma
EFO:0002913	EFO:1001948	\N	"A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	213860	\N	\N	EFO	1	EFO	Cutaneous T-cell lymphoma	childhood T lymphoblastic lymphoma
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	567747	\N	\N	EFO	2	EFO	disease	childhood T lymphoblastic lymphoma
EFO:0004198	EFO:0002913	\N	"Tumors or cancer of the SKIN." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	567748	\N	\N	EFO	2	EFO	skin neoplasm	childhood T lymphoblastic lymphoma
EFO:0005952	EFO:0002913	\N	" Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	567749	\N	\N	EFO	2	EFO	non-Hodgkins lymphoma	childhood T lymphoblastic lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	5817418	\N	\N	EFO	8	EFO	disposition	childhood T lymphoblastic lymphoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	1149211	\N	\N	EFO	3	EFO	neoplasm	childhood T lymphoblastic lymphoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	1149212	\N	\N	EFO	3	EFO	skin disease	childhood T lymphoblastic lymphoma
EFO:0000574	EFO:0005952	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	1149213	\N	\N	EFO	3	EFO	lymphoma	childhood T lymphoblastic lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	6370818	\N	\N	EFO	9	EFO	material property	childhood T lymphoblastic lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	5409621	\N	\N	EFO	7	EFO	disease	childhood T lymphoblastic lymphoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	2031431	\N	\N	EFO	4	EFO	disease	childhood T lymphoblastic lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	2031432	\N	\N	EFO	4	EFO	lymphoid neoplasm	childhood T lymphoblastic lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	6762356	\N	\N	EFO	10	EFO	experimental factor	childhood T lymphoblastic lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	3182024	\N	\N	EFO	5	EFO	cancer	childhood T lymphoblastic lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	3182025	\N	\N	EFO	5	EFO	hematological system disease	childhood T lymphoblastic lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	4390195	\N	\N	EFO	6	EFO	neoplasm	childhood T lymphoblastic lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001948	"A T lymphoblastic lymphoma that occurs during childhood." []	4390196	\N	\N	EFO	6	EFO	disease	childhood T lymphoblastic lymphoma
EFO:1001949	\N	\N	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	71291	\N	\N	EFO	0	EFO	colon adenocarcinoma	colon adenocarcinoma
EFO:0000365	EFO:1001949	\N	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	213861	\N	\N	EFO	1	EFO	colorectal adenocarcinoma	colon adenocarcinoma
EFO:1001950	EFO:1001949	\N	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	213862	\N	\N	EFO	1	EFO	colon carcinoma	colon adenocarcinoma
EFO:0000228	EFO:0000365	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	567750	\N	\N	EFO	2	EFO	adenocarcinoma	colon adenocarcinoma
EFO:0004288	EFO:0000365	\N	"Tumors or cancer of the COLON." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	567751	\N	\N	EFO	2	EFO	colonic neoplasm	colon adenocarcinoma
EFO:0004288	EFO:1001950	\N	"Tumors or cancer of the COLON." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	567752	\N	\N	EFO	2	EFO	colonic neoplasm	colon adenocarcinoma
EFO:1001951	EFO:1001950	\N	"A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	567753	\N	\N	EFO	2	EFO	colorectal carcinoma	colon adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	1149214	\N	\N	EFO	3	EFO	carcinoma	colon adenocarcinoma
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	1149215	\N	\N	EFO	3	EFO	digestive system disease	colon adenocarcinoma
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	1149216	\N	\N	EFO	3	EFO	neoplasm	colon adenocarcinoma
EFO:0000405	EFO:1001951	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	1149217	\N	\N	EFO	3	EFO	digestive system disease	colon adenocarcinoma
EFO:0004142	EFO:1001951	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	1149218	\N	\N	EFO	3	EFO	colorectal neoplasm	colon adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	2031433	\N	\N	EFO	4	EFO	cancer	colon adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	2031434	\N	\N	EFO	4	EFO	epithelial neoplasm	colon adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	2031435	\N	\N	EFO	4	EFO	disease	colon adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	4390197	\N	\N	EFO	6	EFO	disease	colon adenocarcinoma
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	2031437	\N	\N	EFO	4	EFO	neoplasm	colon adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	3182026	\N	\N	EFO	5	EFO	neoplasm	colon adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	3182027	\N	\N	EFO	5	EFO	neoplasm	colon adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	5059524	\N	\N	EFO	7	EFO	disposition	colon adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	5876669	\N	\N	EFO	8	EFO	material property	colon adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001949	"An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	6469880	\N	\N	EFO	9	EFO	experimental factor	colon adenocarcinoma
EFO:1001950	\N	\N	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	71292	\N	\N	EFO	0	EFO	colon carcinoma	colon carcinoma
EFO:0004288	EFO:1001950	\N	"Tumors or cancer of the COLON." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	213863	\N	\N	EFO	1	EFO	colonic neoplasm	colon carcinoma
EFO:1001951	EFO:1001950	\N	"A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	213864	\N	\N	EFO	1	EFO	colorectal carcinoma	colon carcinoma
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	567754	\N	\N	EFO	2	EFO	digestive system disease	colon carcinoma
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	567755	\N	\N	EFO	2	EFO	neoplasm	colon carcinoma
EFO:0000405	EFO:1001951	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	567756	\N	\N	EFO	2	EFO	digestive system disease	colon carcinoma
EFO:0004142	EFO:1001951	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	567757	\N	\N	EFO	2	EFO	colorectal neoplasm	colon carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	1149219	\N	\N	EFO	3	EFO	disease	colon carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	2031439	\N	\N	EFO	4	EFO	disease	colon carcinoma
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	1149221	\N	\N	EFO	3	EFO	neoplasm	colon carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	3000100	\N	\N	EFO	5	EFO	disposition	colon carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	4133161	\N	\N	EFO	6	EFO	material property	colon carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001950	"A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	5181398	\N	\N	EFO	7	EFO	experimental factor	colon carcinoma
EFO:1001951	\N	\N	"A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	EFO:1001951	"A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	71293	\N	\N	EFO	0	EFO	colorectal carcinoma	colorectal carcinoma
EFO:0000405	EFO:1001951	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001951	"A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	213865	\N	\N	EFO	1	EFO	digestive system disease	colorectal carcinoma
EFO:0004142	EFO:1001951	\N	"uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix." []	EFO:1001951	"A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	213866	\N	\N	EFO	1	EFO	colorectal neoplasm	colorectal carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001951	"A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	567758	\N	\N	EFO	2	EFO	disease	colorectal carcinoma
EFO:0000616	EFO:0004142	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001951	"A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	567759	\N	\N	EFO	2	EFO	neoplasm	colorectal carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001951	"A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	2031441	\N	\N	EFO	4	EFO	disposition	colorectal carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001951	"A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	1149223	\N	\N	EFO	3	EFO	disease	colorectal carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001951	"A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	3000101	\N	\N	EFO	5	EFO	material property	colorectal carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001951	"A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." []	4133162	\N	\N	EFO	6	EFO	experimental factor	colorectal carcinoma
EFO:1001952	\N	\N	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	71294	\N	\N	EFO	0	EFO	endometrial adenosquamous carcinoma	endometrial adenosquamous carcinoma
EFO:1001512	EFO:1001952	\N	"A endometrial cancer that is located_in the tissue lining the uterus." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	213867	\N	\N	EFO	1	EFO	endometrial carcinoma	endometrial adenosquamous carcinoma
EFO:0000313	EFO:1001512	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	567760	\N	\N	EFO	2	EFO	carcinoma	endometrial adenosquamous carcinoma
EFO:0004230	EFO:1001512	\N	"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	567761	\N	\N	EFO	2	EFO	endometrial neoplasm	endometrial adenosquamous carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	1149224	\N	\N	EFO	3	EFO	cancer	endometrial adenosquamous carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	1149225	\N	\N	EFO	3	EFO	epithelial neoplasm	endometrial adenosquamous carcinoma
EFO:0003859	EFO:0004230	\N	"Tumors or cancer of the UTERUS." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	1149226	\N	\N	EFO	3	EFO	uterine neoplasm	endometrial adenosquamous carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	2031442	\N	\N	EFO	4	EFO	neoplasm	endometrial adenosquamous carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	2031443	\N	\N	EFO	4	EFO	neoplasm	endometrial adenosquamous carcinoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	2031444	\N	\N	EFO	4	EFO	reproductive system disease	endometrial adenosquamous carcinoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	2031445	\N	\N	EFO	4	EFO	urogenital neoplasm	endometrial adenosquamous carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	4390201	\N	\N	EFO	6	EFO	disease	endometrial adenosquamous carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	3182033	\N	\N	EFO	5	EFO	disease	endometrial adenosquamous carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	3182034	\N	\N	EFO	5	EFO	neoplasm	endometrial adenosquamous carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	5181399	\N	\N	EFO	7	EFO	disposition	endometrial adenosquamous carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	5996798	\N	\N	EFO	8	EFO	material property	endometrial adenosquamous carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001952	"A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." []	6550432	\N	\N	EFO	9	EFO	experimental factor	endometrial adenosquamous carcinoma
EFO:1001953	\N	\N	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	71295	\N	\N	EFO	0	EFO	endometrial endometrioid adenocarcinoma, variant with squamous differentiation	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:1000233	EFO:1001953	\N	"A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004" []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	213868	\N	\N	EFO	1	EFO	Endometrial Endometrioid Adenocarcinoma	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:0000228	EFO:1000233	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	567762	\N	\N	EFO	2	EFO	adenocarcinoma	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:0000512	EFO:1000233	\N	"any diease of the reproductive system" []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	567763	\N	\N	EFO	2	EFO	reproductive system disease	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:0003863	EFO:1000233	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	567764	\N	\N	EFO	2	EFO	urogenital neoplasm	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	1149227	\N	\N	EFO	3	EFO	carcinoma	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	1149228	\N	\N	EFO	3	EFO	disease	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	1149229	\N	\N	EFO	3	EFO	neoplasm	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	2031446	\N	\N	EFO	4	EFO	cancer	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	2031447	\N	\N	EFO	4	EFO	epithelial neoplasm	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	5059525	\N	\N	EFO	7	EFO	disposition	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	4390202	\N	\N	EFO	6	EFO	disease	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	3182035	\N	\N	EFO	5	EFO	neoplasm	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	3182036	\N	\N	EFO	5	EFO	neoplasm	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	5817419	\N	\N	EFO	8	EFO	material property	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001953	"An endometrioid adenocarcinoma of the endometrium showing squamous differentiation." []	6409774	\N	\N	EFO	9	EFO	experimental factor	endometrial endometrioid adenocarcinoma, variant with squamous differentiation
EFO:1001954	\N	\N	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	71296	\N	\N	EFO	0	EFO	Epstein-Barr virus-related Burkitts lymphoma	Epstein-Barr virus-related Burkitts lymphoma
EFO:0000309	EFO:1001954	\N	"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	213869	\N	\N	EFO	1	EFO	Burkitts lymphoma	Epstein-Barr virus-related Burkitts lymphoma
EFO:0007352	EFO:1001954	\N	"a disease in lymphatic system" []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	213870	\N	\N	EFO	1	EFO	lymphatic system disease	Epstein-Barr virus-related Burkitts lymphoma
EFO:0000096	EFO:0000309	\N	"The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	567765	\N	\N	EFO	2	EFO	neoplasm of mature B-cells	Epstein-Barr virus-related Burkitts lymphoma
EFO:0000574	EFO:0000309	\N	"Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	567766	\N	\N	EFO	2	EFO	lymphoma	Epstein-Barr virus-related Burkitts lymphoma
EFO:0005803	EFO:0007352	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	567767	\N	\N	EFO	2	EFO	hematological system disease	Epstein-Barr virus-related Burkitts lymphoma
EFO:0001642	EFO:0000096	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	1149230	\N	\N	EFO	3	EFO	lymphoid neoplasm	Epstein-Barr virus-related Burkitts lymphoma
EFO:0001642	EFO:0000574	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	1149231	\N	\N	EFO	3	EFO	lymphoid neoplasm	Epstein-Barr virus-related Burkitts lymphoma
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	3182040	\N	\N	EFO	5	EFO	disease	Epstein-Barr virus-related Burkitts lymphoma
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	2031450	\N	\N	EFO	4	EFO	cancer	Epstein-Barr virus-related Burkitts lymphoma
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	2031451	\N	\N	EFO	4	EFO	hematological system disease	Epstein-Barr virus-related Burkitts lymphoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	5409625	\N	\N	EFO	7	EFO	disposition	Epstein-Barr virus-related Burkitts lymphoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	3182039	\N	\N	EFO	5	EFO	neoplasm	Epstein-Barr virus-related Burkitts lymphoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	5817420	\N	\N	EFO	8	EFO	material property	Epstein-Barr virus-related Burkitts lymphoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	4390204	\N	\N	EFO	6	EFO	disease	Epstein-Barr virus-related Burkitts lymphoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001954	"Burkitt lymphoma can be classified into three forms which differ in geographic distribution and EpsteinBarr virus (EBV) association: endemic, sporadic and HIV?associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic." []	6409775	\N	\N	EFO	9	EFO	experimental factor	Epstein-Barr virus-related Burkitts lymphoma
EFO:1001955	\N	\N	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	71297	\N	\N	EFO	0	EFO	erythroleukemia	erythroleukemia
EFO:0000218	EFO:1001955	\N	"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	213871	\N	\N	EFO	1	EFO	acute erythroleukemia	erythroleukemia
EFO:0000319	EFO:1001955	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	213872	\N	\N	EFO	1	EFO	cardiovascular disease	erythroleukemia
EFO:0002461	EFO:1001955	\N	"Any disease which affects part of the skeletal system." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	213873	\N	\N	EFO	1	EFO	skeletal system disease	erythroleukemia
EFO:0000222	EFO:0000218	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	567768	\N	\N	EFO	2	EFO	acute myeloid leukemia	erythroleukemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	567769	\N	\N	EFO	2	EFO	disease	erythroleukemia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	567770	\N	\N	EFO	2	EFO	disease	erythroleukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	1149233	\N	\N	EFO	3	EFO	myeloid neoplasm	erythroleukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	1149234	\N	\N	EFO	3	EFO	Acute Leukemia	erythroleukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	6550433	\N	\N	EFO	9	EFO	disposition	erythroleukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	2031453	\N	\N	EFO	4	EFO	lymphoid neoplasm	erythroleukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	2031454	\N	\N	EFO	4	EFO	leukemia	erythroleukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	6758558	\N	\N	EFO	10	EFO	material property	erythroleukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	4390208	\N	\N	EFO	6	EFO	cancer	erythroleukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	4390209	\N	\N	EFO	6	EFO	hematological system disease	erythroleukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	3182044	\N	\N	EFO	5	EFO	lymphoid neoplasm	erythroleukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	7008626	\N	\N	EFO	11	EFO	experimental factor	erythroleukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	5181401	\N	\N	EFO	7	EFO	neoplasm	erythroleukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	5181402	\N	\N	EFO	7	EFO	disease	erythroleukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001955	"Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." []	5996799	\N	\N	EFO	8	EFO	disease	erythroleukemia
EFO:1001956	\N	\N	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	71298	\N	\N	EFO	0	EFO	gallbladder carcinoma	gallbladder carcinoma
EFO:0003832	EFO:1001956	\N	"Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	213874	\N	\N	EFO	1	EFO	gallbladder disease	gallbladder carcinoma
EFO:1000218	EFO:1001956	\N	"A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	213875	\N	\N	EFO	1	EFO	Digestive System Carcinoma	gallbladder carcinoma
EFO:0000405	EFO:0003832	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	567771	\N	\N	EFO	2	EFO	digestive system disease	gallbladder carcinoma
EFO:0000313	EFO:1000218	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	567772	\N	\N	EFO	2	EFO	carcinoma	gallbladder carcinoma
EFO:0000405	EFO:1000218	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	567773	\N	\N	EFO	2	EFO	digestive system disease	gallbladder carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	1149236	\N	\N	EFO	3	EFO	disease	gallbladder carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	1149237	\N	\N	EFO	3	EFO	cancer	gallbladder carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	1149238	\N	\N	EFO	3	EFO	epithelial neoplasm	gallbladder carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	4390211	\N	\N	EFO	6	EFO	disposition	gallbladder carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	2031457	\N	\N	EFO	4	EFO	neoplasm	gallbladder carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	2031458	\N	\N	EFO	4	EFO	neoplasm	gallbladder carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	5059527	\N	\N	EFO	7	EFO	material property	gallbladder carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	3182047	\N	\N	EFO	5	EFO	disease	gallbladder carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001956	"A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." []	5876671	\N	\N	EFO	8	EFO	experimental factor	gallbladder carcinoma
EFO:1001957	\N	\N	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	71299	\N	\N	EFO	0	EFO	hereditary thyroid gland medullary carcinoma	hereditary thyroid gland medullary carcinoma
EFO:0002892	EFO:1001957	\N	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	213876	\N	\N	EFO	1	EFO	thyroid carcinoma	hereditary thyroid gland medullary carcinoma
EFO:0000313	EFO:0002892	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	567774	\N	\N	EFO	2	EFO	carcinoma	hereditary thyroid gland medullary carcinoma
EFO:0003841	EFO:0002892	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	567775	\N	\N	EFO	2	EFO	thyroid neoplasm	hereditary thyroid gland medullary carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	1149239	\N	\N	EFO	3	EFO	cancer	hereditary thyroid gland medullary carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	1149240	\N	\N	EFO	3	EFO	epithelial neoplasm	hereditary thyroid gland medullary carcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	1149241	\N	\N	EFO	3	EFO	endocrine neoplasm	hereditary thyroid gland medullary carcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	1149242	\N	\N	EFO	3	EFO	thyroid disease	hereditary thyroid gland medullary carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	2031459	\N	\N	EFO	4	EFO	neoplasm	hereditary thyroid gland medullary carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	2031460	\N	\N	EFO	4	EFO	neoplasm	hereditary thyroid gland medullary carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	2031461	\N	\N	EFO	4	EFO	neoplasm	hereditary thyroid gland medullary carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	2031462	\N	\N	EFO	4	EFO	endocrine system disease	hereditary thyroid gland medullary carcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	2031463	\N	\N	EFO	4	EFO	endocrine system disease	hereditary thyroid gland medullary carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	3182048	\N	\N	EFO	5	EFO	disease	hereditary thyroid gland medullary carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	3182049	\N	\N	EFO	5	EFO	disease	hereditary thyroid gland medullary carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	4390212	\N	\N	EFO	6	EFO	disposition	hereditary thyroid gland medullary carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	5409628	\N	\N	EFO	7	EFO	material property	hereditary thyroid gland medullary carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001957	"A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b)." []	6147713	\N	\N	EFO	8	EFO	experimental factor	hereditary thyroid gland medullary carcinoma
EFO:1001958	\N	\N	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	71300	\N	\N	EFO	0	EFO	high grade ovarian serous adenocarcinoma	high grade ovarian serous adenocarcinoma
EFO:0002917	EFO:1001958	\N	"An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	213877	\N	\N	EFO	1	EFO	ovarian serous adenocarcinoma	high grade ovarian serous adenocarcinoma
EFO:0003825	EFO:0002917	\N	"A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)" []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	567776	\N	\N	EFO	2	EFO	serous adenocarcinoma	high grade ovarian serous adenocarcinoma
EFO:0003893	EFO:0002917	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	567777	\N	\N	EFO	2	EFO	ovarian neoplasm	high grade ovarian serous adenocarcinoma
EFO:0000228	EFO:0003825	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	1149243	\N	\N	EFO	3	EFO	adenocarcinoma	high grade ovarian serous adenocarcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	1149244	\N	\N	EFO	3	EFO	urogenital neoplasm	high grade ovarian serous adenocarcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	1149245	\N	\N	EFO	3	EFO	ovarian disease	high grade ovarian serous adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	2031464	\N	\N	EFO	4	EFO	carcinoma	high grade ovarian serous adenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	2031465	\N	\N	EFO	4	EFO	neoplasm	high grade ovarian serous adenocarcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	2031466	\N	\N	EFO	4	EFO	reproductive system disease	high grade ovarian serous adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	3182050	\N	\N	EFO	5	EFO	cancer	high grade ovarian serous adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	3182051	\N	\N	EFO	5	EFO	epithelial neoplasm	high grade ovarian serous adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	5409629	\N	\N	EFO	7	EFO	disease	high grade ovarian serous adenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	3182053	\N	\N	EFO	5	EFO	disease	high grade ovarian serous adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	4390213	\N	\N	EFO	6	EFO	neoplasm	high grade ovarian serous adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	4390214	\N	\N	EFO	6	EFO	neoplasm	high grade ovarian serous adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	5876672	\N	\N	EFO	8	EFO	disposition	high grade ovarian serous adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	6469881	\N	\N	EFO	9	EFO	material property	high grade ovarian serous adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001958	"A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures." []	6848227	\N	\N	EFO	10	EFO	experimental factor	high grade ovarian serous adenocarcinoma
EFO:1001959	\N	\N	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	71301	\N	\N	EFO	0	EFO	hilar cholangiocarcinoma	hilar cholangiocarcinoma
EFO:0005221	EFO:1001959	\N	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	213878	\N	\N	EFO	1	EFO	cholangiocarcinoma	hilar cholangiocarcinoma
EFO:1001513	EFO:1001959	\N	"Tumors or cancers of the LIVER." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	213879	\N	\N	EFO	1	EFO	liver neoplasm	hilar cholangiocarcinoma
EFO:0000313	EFO:0005221	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	567778	\N	\N	EFO	2	EFO	carcinoma	hilar cholangiocarcinoma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	567779	\N	\N	EFO	2	EFO	liver disease	hilar cholangiocarcinoma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	567780	\N	\N	EFO	2	EFO	endocrine neoplasm	hilar cholangiocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	1149246	\N	\N	EFO	3	EFO	cancer	hilar cholangiocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	1149247	\N	\N	EFO	3	EFO	epithelial neoplasm	hilar cholangiocarcinoma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	1149248	\N	\N	EFO	3	EFO	digestive system disease	hilar cholangiocarcinoma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	1149249	\N	\N	EFO	3	EFO	endocrine system disease	hilar cholangiocarcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	1149250	\N	\N	EFO	3	EFO	neoplasm	hilar cholangiocarcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	1149251	\N	\N	EFO	3	EFO	endocrine system disease	hilar cholangiocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	2031467	\N	\N	EFO	4	EFO	neoplasm	hilar cholangiocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	2031468	\N	\N	EFO	4	EFO	neoplasm	hilar cholangiocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	2031469	\N	\N	EFO	4	EFO	disease	hilar cholangiocarcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	2031470	\N	\N	EFO	4	EFO	disease	hilar cholangiocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	3182054	\N	\N	EFO	5	EFO	disease	hilar cholangiocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	4133164	\N	\N	EFO	6	EFO	disposition	hilar cholangiocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	5181403	\N	\N	EFO	7	EFO	material property	hilar cholangiocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001959	"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." []	5996801	\N	\N	EFO	8	EFO	experimental factor	hilar cholangiocarcinoma
EFO:1001960	\N	\N	"A squamous cell carcinoma arising from the hypopharynx." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	71302	\N	\N	EFO	0	EFO	hypopharyngeal squamous cell carcinoma	hypopharyngeal squamous cell carcinoma
EFO:0002938	EFO:1001960	\N	"" []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	213880	\N	\N	EFO	1	EFO	hypopharyngeal carcinoma	hypopharyngeal squamous cell carcinoma
EFO:0000313	EFO:0002938	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	567781	\N	\N	EFO	2	EFO	carcinoma	hypopharyngeal squamous cell carcinoma
EFO:0000405	EFO:0002938	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	567782	\N	\N	EFO	2	EFO	digestive system disease	hypopharyngeal squamous cell carcinoma
EFO:0003853	EFO:0002938	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	567783	\N	\N	EFO	2	EFO	respiratory system neoplasm	hypopharyngeal squamous cell carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	1149252	\N	\N	EFO	3	EFO	cancer	hypopharyngeal squamous cell carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	1149253	\N	\N	EFO	3	EFO	epithelial neoplasm	hypopharyngeal squamous cell carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	1149254	\N	\N	EFO	3	EFO	disease	hypopharyngeal squamous cell carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	1149255	\N	\N	EFO	3	EFO	neoplasm	hypopharyngeal squamous cell carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	1149256	\N	\N	EFO	3	EFO	respiratory system disease	hypopharyngeal squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	2031472	\N	\N	EFO	4	EFO	neoplasm	hypopharyngeal squamous cell carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	2031473	\N	\N	EFO	4	EFO	neoplasm	hypopharyngeal squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	4133166	\N	\N	EFO	6	EFO	disposition	hypopharyngeal squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	3182056	\N	\N	EFO	5	EFO	disease	hypopharyngeal squamous cell carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	2031476	\N	\N	EFO	4	EFO	disease	hypopharyngeal squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	5059528	\N	\N	EFO	7	EFO	material property	hypopharyngeal squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001960	"A squamous cell carcinoma arising from the hypopharynx." []	5876673	\N	\N	EFO	8	EFO	experimental factor	hypopharyngeal squamous cell carcinoma
EFO:1001961	\N	\N	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	71303	\N	\N	EFO	0	EFO	intrahepatic cholangiocarcinoma	intrahepatic cholangiocarcinoma
EFO:0005221	EFO:1001961	\N	"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	213881	\N	\N	EFO	1	EFO	cholangiocarcinoma	intrahepatic cholangiocarcinoma
EFO:1001513	EFO:1001961	\N	"Tumors or cancers of the LIVER." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	213882	\N	\N	EFO	1	EFO	liver neoplasm	intrahepatic cholangiocarcinoma
EFO:0000313	EFO:0005221	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	567784	\N	\N	EFO	2	EFO	carcinoma	intrahepatic cholangiocarcinoma
EFO:0001421	EFO:1001513	\N	"Pathological processes of the LIVER." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	567785	\N	\N	EFO	2	EFO	liver disease	intrahepatic cholangiocarcinoma
EFO:0003769	EFO:1001513	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	567786	\N	\N	EFO	2	EFO	endocrine neoplasm	intrahepatic cholangiocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	1149257	\N	\N	EFO	3	EFO	cancer	intrahepatic cholangiocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	1149258	\N	\N	EFO	3	EFO	epithelial neoplasm	intrahepatic cholangiocarcinoma
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	1149259	\N	\N	EFO	3	EFO	digestive system disease	intrahepatic cholangiocarcinoma
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	1149260	\N	\N	EFO	3	EFO	endocrine system disease	intrahepatic cholangiocarcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	1149261	\N	\N	EFO	3	EFO	neoplasm	intrahepatic cholangiocarcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	1149262	\N	\N	EFO	3	EFO	endocrine system disease	intrahepatic cholangiocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	2031477	\N	\N	EFO	4	EFO	neoplasm	intrahepatic cholangiocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	2031478	\N	\N	EFO	4	EFO	neoplasm	intrahepatic cholangiocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	2031479	\N	\N	EFO	4	EFO	disease	intrahepatic cholangiocarcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	2031480	\N	\N	EFO	4	EFO	disease	intrahepatic cholangiocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	3182059	\N	\N	EFO	5	EFO	disease	intrahepatic cholangiocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	4133167	\N	\N	EFO	6	EFO	disposition	intrahepatic cholangiocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	5181405	\N	\N	EFO	7	EFO	material property	intrahepatic cholangiocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001961	"A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." []	5996802	\N	\N	EFO	8	EFO	experimental factor	intrahepatic cholangiocarcinoma
EFO:1001962	\N	\N	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	71304	\N	\N	EFO	0	EFO	ovarian cystadenocarcinoma	ovarian cystadenocarcinoma
EFO:0006460	EFO:1001962	\N	"An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	213883	\N	\N	EFO	1	EFO	ovarian adenocarcinoma	ovarian cystadenocarcinoma
EFO:0000228	EFO:0006460	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	567787	\N	\N	EFO	2	EFO	adenocarcinoma	ovarian cystadenocarcinoma
EFO:0001075	EFO:0006460	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	567788	\N	\N	EFO	2	EFO	ovarian carcinoma	ovarian cystadenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	1149263	\N	\N	EFO	3	EFO	carcinoma	ovarian cystadenocarcinoma
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	1149264	\N	\N	EFO	3	EFO	carcinoma	ovarian cystadenocarcinoma
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	1149265	\N	\N	EFO	3	EFO	ovarian neoplasm	ovarian cystadenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	2031482	\N	\N	EFO	4	EFO	cancer	ovarian cystadenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	2031483	\N	\N	EFO	4	EFO	epithelial neoplasm	ovarian cystadenocarcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	2031484	\N	\N	EFO	4	EFO	urogenital neoplasm	ovarian cystadenocarcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	2031485	\N	\N	EFO	4	EFO	ovarian disease	ovarian cystadenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	3182061	\N	\N	EFO	5	EFO	neoplasm	ovarian cystadenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	3182062	\N	\N	EFO	5	EFO	neoplasm	ovarian cystadenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	3182063	\N	\N	EFO	5	EFO	neoplasm	ovarian cystadenocarcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	3182064	\N	\N	EFO	5	EFO	reproductive system disease	ovarian cystadenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	4390219	\N	\N	EFO	6	EFO	disease	ovarian cystadenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	4390220	\N	\N	EFO	6	EFO	disease	ovarian cystadenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	5409633	\N	\N	EFO	7	EFO	disposition	ovarian cystadenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	6147715	\N	\N	EFO	8	EFO	material property	ovarian cystadenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001962	"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." []	6631898	\N	\N	EFO	9	EFO	experimental factor	ovarian cystadenocarcinoma
EFO:1001963	\N	\N	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	71305	\N	\N	EFO	0	EFO	ovarian mucinous cystadenocarcinoma	ovarian mucinous cystadenocarcinoma
EFO:0003893	EFO:1001963	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	213884	\N	\N	EFO	1	EFO	ovarian neoplasm	ovarian mucinous cystadenocarcinoma
EFO:0007378	EFO:1001963	\N	"A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	213885	\N	\N	EFO	1	EFO	mucinous cystadenocarcinoma	ovarian mucinous cystadenocarcinoma
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	567789	\N	\N	EFO	2	EFO	urogenital neoplasm	ovarian mucinous cystadenocarcinoma
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	567790	\N	\N	EFO	2	EFO	ovarian disease	ovarian mucinous cystadenocarcinoma
EFO:0006387	EFO:0007378	\N	"" []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	567791	\N	\N	EFO	2	EFO	cystadenocarcinoma	ovarian mucinous cystadenocarcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	1149266	\N	\N	EFO	3	EFO	neoplasm	ovarian mucinous cystadenocarcinoma
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	1149267	\N	\N	EFO	3	EFO	reproductive system disease	ovarian mucinous cystadenocarcinoma
EFO:0000228	EFO:0006387	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	1149268	\N	\N	EFO	3	EFO	adenocarcinoma	ovarian mucinous cystadenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	5409635	\N	\N	EFO	7	EFO	disease	ovarian mucinous cystadenocarcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	2031487	\N	\N	EFO	4	EFO	disease	ovarian mucinous cystadenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	2031488	\N	\N	EFO	4	EFO	carcinoma	ovarian mucinous cystadenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	5817421	\N	\N	EFO	8	EFO	disposition	ovarian mucinous cystadenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	3182066	\N	\N	EFO	5	EFO	cancer	ovarian mucinous cystadenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	3182067	\N	\N	EFO	5	EFO	epithelial neoplasm	ovarian mucinous cystadenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	6409776	\N	\N	EFO	9	EFO	material property	ovarian mucinous cystadenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	4390222	\N	\N	EFO	6	EFO	neoplasm	ovarian mucinous cystadenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	4390223	\N	\N	EFO	6	EFO	neoplasm	ovarian mucinous cystadenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001963	"An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." []	6807635	\N	\N	EFO	10	EFO	experimental factor	ovarian mucinous cystadenocarcinoma
EFO:1001964	\N	\N	"A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." []	EFO:1001964	"A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." []	71306	\N	\N	EFO	0	EFO	pancreatic somatostatinoma	pancreatic somatostatinoma
EFO:0003860	EFO:1001964	\N	"Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)." []	EFO:1001964	"A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." []	213886	\N	\N	EFO	1	EFO	pancreatic neoplasm	pancreatic somatostatinoma
EFO:0003769	EFO:0003860	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001964	"A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." []	567792	\N	\N	EFO	2	EFO	endocrine neoplasm	pancreatic somatostatinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001964	"A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." []	1149269	\N	\N	EFO	3	EFO	neoplasm	pancreatic somatostatinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001964	"A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." []	1149270	\N	\N	EFO	3	EFO	endocrine system disease	pancreatic somatostatinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001964	"A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." []	2031489	\N	\N	EFO	4	EFO	disease	pancreatic somatostatinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001964	"A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." []	2031490	\N	\N	EFO	4	EFO	disease	pancreatic somatostatinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001964	"A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." []	3182068	\N	\N	EFO	5	EFO	disposition	pancreatic somatostatinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001964	"A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." []	4390224	\N	\N	EFO	6	EFO	material property	pancreatic somatostatinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001964	"A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." []	5409636	\N	\N	EFO	7	EFO	experimental factor	pancreatic somatostatinoma
EFO:1001965	\N	\N	"A squamous cell carcinoma that arises from the pharynx." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	71307	\N	\N	EFO	0	EFO	pharyngeal squamous cell carcinoma	pharyngeal squamous cell carcinoma
EFO:0005577	EFO:1001965	\N	"A primary or metastatic malignant neoplasm that affects the pharynx." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	213887	\N	\N	EFO	1	EFO	pharynx cancer	pharyngeal squamous cell carcinoma
EFO:0000311	EFO:0005577	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	567793	\N	\N	EFO	2	EFO	cancer	pharyngeal squamous cell carcinoma
EFO:0000405	EFO:0005577	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	567794	\N	\N	EFO	2	EFO	digestive system disease	pharyngeal squamous cell carcinoma
EFO:0003853	EFO:0005577	\N	"A tumor (abnormal growth of tissue) of the respiratory system." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	567795	\N	\N	EFO	2	EFO	respiratory system neoplasm	pharyngeal squamous cell carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	1149271	\N	\N	EFO	3	EFO	neoplasm	pharyngeal squamous cell carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	1149272	\N	\N	EFO	3	EFO	disease	pharyngeal squamous cell carcinoma
EFO:0000616	EFO:0003853	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	1149273	\N	\N	EFO	3	EFO	neoplasm	pharyngeal squamous cell carcinoma
EFO:0000684	EFO:0003853	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	1149274	\N	\N	EFO	3	EFO	respiratory system disease	pharyngeal squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	2031491	\N	\N	EFO	4	EFO	disease	pharyngeal squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	3182069	\N	\N	EFO	5	EFO	disposition	pharyngeal squamous cell carcinoma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	2031493	\N	\N	EFO	4	EFO	disease	pharyngeal squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	4133168	\N	\N	EFO	6	EFO	material property	pharyngeal squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001965	"A squamous cell carcinoma that arises from the pharynx." []	5181406	\N	\N	EFO	7	EFO	experimental factor	pharyngeal squamous cell carcinoma
EFO:1001966	\N	\N	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	71308	\N	\N	EFO	0	EFO	rectosigmoid adenocarcinoma	rectosigmoid adenocarcinoma
EFO:0000365	EFO:1001966	\N	"Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	213888	\N	\N	EFO	1	EFO	colorectal adenocarcinoma	rectosigmoid adenocarcinoma
EFO:0000228	EFO:0000365	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	567796	\N	\N	EFO	2	EFO	adenocarcinoma	rectosigmoid adenocarcinoma
EFO:0004288	EFO:0000365	\N	"Tumors or cancer of the COLON." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	567797	\N	\N	EFO	2	EFO	colonic neoplasm	rectosigmoid adenocarcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	1149275	\N	\N	EFO	3	EFO	carcinoma	rectosigmoid adenocarcinoma
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	1149276	\N	\N	EFO	3	EFO	digestive system disease	rectosigmoid adenocarcinoma
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	1149277	\N	\N	EFO	3	EFO	neoplasm	rectosigmoid adenocarcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	2031494	\N	\N	EFO	4	EFO	cancer	rectosigmoid adenocarcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	2031495	\N	\N	EFO	4	EFO	epithelial neoplasm	rectosigmoid adenocarcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	2031496	\N	\N	EFO	4	EFO	disease	rectosigmoid adenocarcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	4390226	\N	\N	EFO	6	EFO	disease	rectosigmoid adenocarcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	3182071	\N	\N	EFO	5	EFO	neoplasm	rectosigmoid adenocarcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	3182072	\N	\N	EFO	5	EFO	neoplasm	rectosigmoid adenocarcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	5059529	\N	\N	EFO	7	EFO	disposition	rectosigmoid adenocarcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	5876674	\N	\N	EFO	8	EFO	material property	rectosigmoid adenocarcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001966	"An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []	6469882	\N	\N	EFO	9	EFO	experimental factor	rectosigmoid adenocarcinoma
EFO:1001967	\N	\N	"A squamous cell carcinoma arising from the salivary glands." []	EFO:1001967	"A squamous cell carcinoma arising from the salivary glands." []	71309	\N	\N	EFO	0	EFO	salivary gland squamous cell carcinoma	salivary gland squamous cell carcinoma
EFO:0003826	EFO:1001967	\N	"Tumors or cancer of the SALIVARY GLANDS." []	EFO:1001967	"A squamous cell carcinoma arising from the salivary glands." []	213889	\N	\N	EFO	1	EFO	salivary gland neoplasm	salivary gland squamous cell carcinoma
EFO:0000405	EFO:0003826	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1001967	"A squamous cell carcinoma arising from the salivary glands." []	567798	\N	\N	EFO	2	EFO	digestive system disease	salivary gland squamous cell carcinoma
EFO:0005950	EFO:0003826	\N	"A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." []	EFO:1001967	"A squamous cell carcinoma arising from the salivary glands." []	567799	\N	\N	EFO	2	EFO	head and neck neoplasia	salivary gland squamous cell carcinoma
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001967	"A squamous cell carcinoma arising from the salivary glands." []	1149278	\N	\N	EFO	3	EFO	disease	salivary gland squamous cell carcinoma
EFO:0000524	EFO:0005950	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1001967	"A squamous cell carcinoma arising from the salivary glands." []	1149279	\N	\N	EFO	3	EFO	head disease	salivary gland squamous cell carcinoma
EFO:0000616	EFO:0005950	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001967	"A squamous cell carcinoma arising from the salivary glands." []	1149280	\N	\N	EFO	3	EFO	neoplasm	salivary gland squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001967	"A squamous cell carcinoma arising from the salivary glands." []	3182075	\N	\N	EFO	5	EFO	disposition	salivary gland squamous cell carcinoma
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001967	"A squamous cell carcinoma arising from the salivary glands." []	2031499	\N	\N	EFO	4	EFO	disease	salivary gland squamous cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001967	"A squamous cell carcinoma arising from the salivary glands." []	2031500	\N	\N	EFO	4	EFO	disease	salivary gland squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001967	"A squamous cell carcinoma arising from the salivary glands." []	4133169	\N	\N	EFO	6	EFO	material property	salivary gland squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001967	"A squamous cell carcinoma arising from the salivary glands." []	5181407	\N	\N	EFO	7	EFO	experimental factor	salivary gland squamous cell carcinoma
EFO:1001968	\N	\N	"A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." []	EFO:1001968	"A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." []	71310	\N	\N	EFO	0	EFO	soft tissue sarcoma	soft tissue sarcoma
EFO:0000691	EFO:1001968	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1001968	"A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." []	213890	\N	\N	EFO	1	EFO	sarcoma	soft tissue sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001968	"A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." []	567800	\N	\N	EFO	2	EFO	cancer	soft tissue sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001968	"A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." []	1149281	\N	\N	EFO	3	EFO	neoplasm	soft tissue sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001968	"A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." []	2031501	\N	\N	EFO	4	EFO	disease	soft tissue sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001968	"A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." []	3182076	\N	\N	EFO	5	EFO	disposition	soft tissue sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001968	"A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." []	4390229	\N	\N	EFO	6	EFO	material property	soft tissue sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001968	"A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." []	5409638	\N	\N	EFO	7	EFO	experimental factor	soft tissue sarcoma
EFO:1001969	\N	\N	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	EFO:1001969	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	71311	\N	\N	EFO	0	EFO	squamous cell breast carcinoma, acantholytic variant	squamous cell breast carcinoma, acantholytic variant
EFO:1000053	EFO:1001969	\N	"A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells" []	EFO:1001969	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	213891	\N	\N	EFO	1	EFO	squamous cell breast carcinoma	squamous cell breast carcinoma, acantholytic variant
EFO:0000707	EFO:1000053	\N	"A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)" []	EFO:1001969	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	567801	\N	\N	EFO	2	EFO	squamous cell carcinoma	squamous cell breast carcinoma, acantholytic variant
EFO:0000313	EFO:0000707	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001969	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	1149282	\N	\N	EFO	3	EFO	carcinoma	squamous cell breast carcinoma, acantholytic variant
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001969	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	2031502	\N	\N	EFO	4	EFO	cancer	squamous cell breast carcinoma, acantholytic variant
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001969	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	2031503	\N	\N	EFO	4	EFO	epithelial neoplasm	squamous cell breast carcinoma, acantholytic variant
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001969	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	3182077	\N	\N	EFO	5	EFO	neoplasm	squamous cell breast carcinoma, acantholytic variant
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001969	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	3182078	\N	\N	EFO	5	EFO	neoplasm	squamous cell breast carcinoma, acantholytic variant
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001969	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	4390230	\N	\N	EFO	6	EFO	disease	squamous cell breast carcinoma, acantholytic variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001969	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	5409639	\N	\N	EFO	7	EFO	disposition	squamous cell breast carcinoma, acantholytic variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001969	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	6147716	\N	\N	EFO	8	EFO	material property	squamous cell breast carcinoma, acantholytic variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001969	"A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." []	6631899	\N	\N	EFO	9	EFO	experimental factor	squamous cell breast carcinoma, acantholytic variant
EFO:1001970	\N	\N	"A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." []	EFO:1001970	"A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." []	71312	\N	\N	EFO	0	EFO	squamous papilloma	squamous papilloma
EFO:1000646	EFO:1001970	\N	"A carcinoma that is derived from epithelial cells with finger like projections" []	EFO:1001970	"A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." []	213892	\N	\N	EFO	1	EFO	papillary carcinoma	squamous papilloma
EFO:0006858	EFO:1000646	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001970	"A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." []	567802	\N	\N	EFO	2	EFO	epithelial neoplasm	squamous papilloma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001970	"A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." []	1149283	\N	\N	EFO	3	EFO	neoplasm	squamous papilloma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001970	"A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." []	2031504	\N	\N	EFO	4	EFO	disease	squamous papilloma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001970	"A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." []	3182079	\N	\N	EFO	5	EFO	disposition	squamous papilloma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001970	"A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." []	4390231	\N	\N	EFO	6	EFO	material property	squamous papilloma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001970	"A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." []	5409640	\N	\N	EFO	7	EFO	experimental factor	squamous papilloma
EFO:1001971	\N	\N	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	EFO:1001971	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	71313	\N	\N	EFO	0	EFO	thyroid gland sarcoma	thyroid gland sarcoma
EFO:0003841	EFO:1001971	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1001971	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	213893	\N	\N	EFO	1	EFO	thyroid neoplasm	thyroid gland sarcoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1001971	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	567803	\N	\N	EFO	2	EFO	endocrine neoplasm	thyroid gland sarcoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1001971	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	567804	\N	\N	EFO	2	EFO	thyroid disease	thyroid gland sarcoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001971	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	1149284	\N	\N	EFO	3	EFO	neoplasm	thyroid gland sarcoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001971	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	1149285	\N	\N	EFO	3	EFO	endocrine system disease	thyroid gland sarcoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001971	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	1149286	\N	\N	EFO	3	EFO	endocrine system disease	thyroid gland sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001971	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	2031505	\N	\N	EFO	4	EFO	disease	thyroid gland sarcoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001971	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	2031506	\N	\N	EFO	4	EFO	disease	thyroid gland sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001971	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	3182080	\N	\N	EFO	5	EFO	disposition	thyroid gland sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001971	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	4390232	\N	\N	EFO	6	EFO	material property	thyroid gland sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001971	"A malignant soft tissue neoplasm primarily involving the thyroid gland." []	5409641	\N	\N	EFO	7	EFO	experimental factor	thyroid gland sarcoma
EFO:1001972	\N	\N	"An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." []	EFO:1001972	"An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." []	71314	\N	\N	EFO	0	EFO	undifferentiated pleomorphic sarcoma	undifferentiated pleomorphic sarcoma
EFO:1001968	EFO:1001972	\N	"A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." []	EFO:1001972	"An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." []	213894	\N	\N	EFO	1	EFO	soft tissue sarcoma	undifferentiated pleomorphic sarcoma
EFO:0000691	EFO:1001968	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1001972	"An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." []	567805	\N	\N	EFO	2	EFO	sarcoma	undifferentiated pleomorphic sarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001972	"An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." []	1149287	\N	\N	EFO	3	EFO	cancer	undifferentiated pleomorphic sarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001972	"An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." []	2031507	\N	\N	EFO	4	EFO	neoplasm	undifferentiated pleomorphic sarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001972	"An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." []	3182081	\N	\N	EFO	5	EFO	disease	undifferentiated pleomorphic sarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001972	"An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." []	4390233	\N	\N	EFO	6	EFO	disposition	undifferentiated pleomorphic sarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001972	"An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." []	5409642	\N	\N	EFO	7	EFO	material property	undifferentiated pleomorphic sarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001972	"An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." []	6147717	\N	\N	EFO	8	EFO	experimental factor	undifferentiated pleomorphic sarcoma
EFO:1001973	\N	\N	"A carcinoma that arises from the transitional epithelium of the ureter." []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	71315	\N	\N	EFO	0	EFO	ureter urothelial carcinoma	ureter urothelial carcinoma
EFO:1000609	EFO:1001973	\N	"A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003" []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	213895	\N	\N	EFO	1	EFO	Ureter Carcinoma	ureter urothelial carcinoma
EFO:0000313	EFO:1000609	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	567806	\N	\N	EFO	2	EFO	carcinoma	ureter urothelial carcinoma
EFO:0003844	EFO:1000609	\N	"Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	567807	\N	\N	EFO	2	EFO	ureteral neoplasm	ureter urothelial carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	1149288	\N	\N	EFO	3	EFO	cancer	ureter urothelial carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	1149289	\N	\N	EFO	3	EFO	epithelial neoplasm	ureter urothelial carcinoma
EFO:0003863	EFO:0003844	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	1149290	\N	\N	EFO	3	EFO	urogenital neoplasm	ureter urothelial carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	2031508	\N	\N	EFO	4	EFO	neoplasm	ureter urothelial carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	2031509	\N	\N	EFO	4	EFO	neoplasm	ureter urothelial carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	2031510	\N	\N	EFO	4	EFO	neoplasm	ureter urothelial carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	3182082	\N	\N	EFO	5	EFO	disease	ureter urothelial carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	4390234	\N	\N	EFO	6	EFO	disposition	ureter urothelial carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	5409643	\N	\N	EFO	7	EFO	material property	ureter urothelial carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001973	"A carcinoma that arises from the transitional epithelium of the ureter." []	6147718	\N	\N	EFO	8	EFO	experimental factor	ureter urothelial carcinoma
EFO:1001974	\N	\N	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	71316	\N	\N	EFO	0	EFO	uterine leiomyosarcoma	uterine leiomyosarcoma
EFO:0002914	EFO:1001974	\N	"Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	213896	\N	\N	EFO	1	EFO	uterine sarcoma	uterine leiomyosarcoma
EFO:0000691	EFO:0002914	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	567808	\N	\N	EFO	2	EFO	sarcoma	uterine leiomyosarcoma
EFO:0003859	EFO:0002914	\N	"Tumors or cancer of the UTERUS." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	567809	\N	\N	EFO	2	EFO	uterine neoplasm	uterine leiomyosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	1149291	\N	\N	EFO	3	EFO	cancer	uterine leiomyosarcoma
EFO:0000512	EFO:0003859	\N	"any diease of the reproductive system" []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	1149292	\N	\N	EFO	3	EFO	reproductive system disease	uterine leiomyosarcoma
EFO:0003863	EFO:0003859	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	1149293	\N	\N	EFO	3	EFO	urogenital neoplasm	uterine leiomyosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	2031511	\N	\N	EFO	4	EFO	neoplasm	uterine leiomyosarcoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	2031512	\N	\N	EFO	4	EFO	disease	uterine leiomyosarcoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	2031513	\N	\N	EFO	4	EFO	neoplasm	uterine leiomyosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	3182083	\N	\N	EFO	5	EFO	disease	uterine leiomyosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	4390235	\N	\N	EFO	6	EFO	disposition	uterine leiomyosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	5181408	\N	\N	EFO	7	EFO	material property	uterine leiomyosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001974	"An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." []	5996803	\N	\N	EFO	8	EFO	experimental factor	uterine leiomyosarcoma
EFO:1001975	\N	\N	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	71317	\N	\N	EFO	0	EFO	vulvar leiomyosarcoma	vulvar leiomyosarcoma
EFO:0002920	EFO:1001975	\N	"A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	213897	\N	\N	EFO	1	EFO	vulva sarcoma	vulvar leiomyosarcoma
EFO:0000512	EFO:0002920	\N	"any diease of the reproductive system" []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	567810	\N	\N	EFO	2	EFO	reproductive system disease	vulvar leiomyosarcoma
EFO:0000691	EFO:0002920	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	567811	\N	\N	EFO	2	EFO	sarcoma	vulvar leiomyosarcoma
EFO:0003863	EFO:0002920	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	567812	\N	\N	EFO	2	EFO	urogenital neoplasm	vulvar leiomyosarcoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	1149294	\N	\N	EFO	3	EFO	disease	vulvar leiomyosarcoma
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	1149295	\N	\N	EFO	3	EFO	cancer	vulvar leiomyosarcoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	1149296	\N	\N	EFO	3	EFO	neoplasm	vulvar leiomyosarcoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	4133171	\N	\N	EFO	6	EFO	disposition	vulvar leiomyosarcoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	2031515	\N	\N	EFO	4	EFO	neoplasm	vulvar leiomyosarcoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	3182086	\N	\N	EFO	5	EFO	disease	vulvar leiomyosarcoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	5059530	\N	\N	EFO	7	EFO	material property	vulvar leiomyosarcoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001975	"An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." []	5876675	\N	\N	EFO	8	EFO	experimental factor	vulvar leiomyosarcoma
EFO:1001976	\N	\N	"stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain" []	EFO:1001976	"stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain" []	71318	\N	\N	EFO	0	EFO	cardioembolic stroke	cardioembolic stroke
EFO:0000712	EFO:1001976	\N	"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." []	EFO:1001976	"stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain" []	213898	\N	\N	EFO	1	EFO	stroke	cardioembolic stroke
EFO:0003763	EFO:0000712	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	EFO:1001976	"stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain" []	567813	\N	\N	EFO	2	EFO	cerebrovascular disorder	cardioembolic stroke
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	EFO:1001976	"stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain" []	1149297	\N	\N	EFO	3	EFO	vascular disease	cardioembolic stroke
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1001976	"stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain" []	2031517	\N	\N	EFO	4	EFO	cardiovascular disease	cardioembolic stroke
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001976	"stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain" []	3182088	\N	\N	EFO	5	EFO	disease	cardioembolic stroke
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001976	"stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain" []	4390238	\N	\N	EFO	6	EFO	disposition	cardioembolic stroke
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001976	"stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain" []	5409645	\N	\N	EFO	7	EFO	material property	cardioembolic stroke
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001976	"stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain" []	6147719	\N	\N	EFO	8	EFO	experimental factor	cardioembolic stroke
EFO:1001977	\N	\N	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	71319	\N	\N	EFO	0	EFO	3MC syndrome 2	3MC syndrome 2
Orphanet:293843	EFO:1001977	\N	"" []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	213899	\N	\N	EFO	1	EFO	Craniofacial-ulnar-renal syndrome	3MC syndrome 2
Orphanet:102283	Orphanet:293843	\N	"" []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	567814	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	3MC syndrome 2
Orphanet:183763	Orphanet:293843	\N	"" []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	567815	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	3MC syndrome 2
Orphanet:183533	Orphanet:102283	\N	"" []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	1149298	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	3MC syndrome 2
Orphanet:183757	Orphanet:183763	\N	"" []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	1149299	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	3MC syndrome 2
Orphanet:183530	Orphanet:183533	\N	"" []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	2031518	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	3MC syndrome 2
Orphanet:71859	Orphanet:183757	\N	"" []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	2031519	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	3MC syndrome 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	3182089	\N	\N	EFO	5	EFO	genetic disorder	3MC syndrome 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	3182090	\N	\N	EFO	5	EFO	genetic disorder	3MC syndrome 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	4390239	\N	\N	EFO	6	EFO	disease	3MC syndrome 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	5409646	\N	\N	EFO	7	EFO	disposition	3MC syndrome 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	6147720	\N	\N	EFO	8	EFO	material property	3MC syndrome 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001977	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25." []	6631900	\N	\N	EFO	9	EFO	experimental factor	3MC syndrome 2
EFO:1001978	\N	\N	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	71320	\N	\N	EFO	0	EFO	3MC syndrome 1	3MC syndrome 1
Orphanet:293843	EFO:1001978	\N	"" []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	213900	\N	\N	EFO	1	EFO	Craniofacial-ulnar-renal syndrome	3MC syndrome 1
Orphanet:102283	Orphanet:293843	\N	"" []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	567816	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	3MC syndrome 1
Orphanet:183763	Orphanet:293843	\N	"" []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	567817	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	3MC syndrome 1
Orphanet:183533	Orphanet:102283	\N	"" []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	1149300	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	3MC syndrome 1
Orphanet:183757	Orphanet:183763	\N	"" []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	1149301	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	3MC syndrome 1
Orphanet:183530	Orphanet:183533	\N	"" []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	2031520	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	3MC syndrome 1
Orphanet:71859	Orphanet:183757	\N	"" []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	2031521	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	3MC syndrome 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	3182091	\N	\N	EFO	5	EFO	genetic disorder	3MC syndrome 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	3182092	\N	\N	EFO	5	EFO	genetic disorder	3MC syndrome 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	4390240	\N	\N	EFO	6	EFO	disease	3MC syndrome 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	5409647	\N	\N	EFO	7	EFO	disposition	3MC syndrome 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	6147721	\N	\N	EFO	8	EFO	material property	3MC syndrome 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001978	"A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27." []	6631901	\N	\N	EFO	9	EFO	experimental factor	3MC syndrome 1
EFO:1001979	\N	\N	"Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland." []	EFO:1001979	"Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland." []	71321	\N	\N	EFO	0	EFO	Adrenocorticotropic hormone deficiency	Adrenocorticotropic hormone deficiency
EFO:0001380	EFO:1001979	\N	"Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions." []	EFO:1001979	"Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland." []	213901	\N	\N	EFO	1	EFO	hypopituitarism	Adrenocorticotropic hormone deficiency
EFO:0001379	EFO:0001380	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001979	"Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland." []	567818	\N	\N	EFO	2	EFO	endocrine system disease	Adrenocorticotropic hormone deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001979	"Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland." []	1149302	\N	\N	EFO	3	EFO	disease	Adrenocorticotropic hormone deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001979	"Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland." []	2031522	\N	\N	EFO	4	EFO	disposition	Adrenocorticotropic hormone deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001979	"Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland." []	3182093	\N	\N	EFO	5	EFO	material property	Adrenocorticotropic hormone deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001979	"Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland." []	4390241	\N	\N	EFO	6	EFO	experimental factor	Adrenocorticotropic hormone deficiency
EFO:1001980	\N	\N	"A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." []	EFO:1001980	"A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." []	71322	\N	\N	EFO	0	EFO	Alpha-methylacyl-CoA racemase deficiency	Alpha-methylacyl-CoA racemase deficiency
Orphanet:68373	EFO:1001980	\N	"" []	EFO:1001980	"A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." []	213902	\N	\N	EFO	1	EFO	Peroxisomal disease	Alpha-methylacyl-CoA racemase deficiency
Orphanet:68367	Orphanet:68373	\N	"" []	EFO:1001980	"A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." []	567819	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Alpha-methylacyl-CoA racemase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001980	"A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." []	1149303	\N	\N	EFO	3	EFO	genetic disorder	Alpha-methylacyl-CoA racemase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001980	"A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." []	1149304	\N	\N	EFO	3	EFO	metabolic disease	Alpha-methylacyl-CoA racemase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001980	"A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." []	2031523	\N	\N	EFO	4	EFO	disease	Alpha-methylacyl-CoA racemase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001980	"A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." []	2031524	\N	\N	EFO	4	EFO	disease	Alpha-methylacyl-CoA racemase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001980	"A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." []	3182094	\N	\N	EFO	5	EFO	disposition	Alpha-methylacyl-CoA racemase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001980	"A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." []	4390242	\N	\N	EFO	6	EFO	material property	Alpha-methylacyl-CoA racemase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001980	"A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." []	5409648	\N	\N	EFO	7	EFO	experimental factor	Alpha-methylacyl-CoA racemase deficiency
EFO:1001981	\N	\N	"Deficiency of the aminoacylase-1 enzyme" []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	71323	\N	\N	EFO	0	EFO	Aminoacylase 1 deficiency	Aminoacylase 1 deficiency
Orphanet:308448	EFO:1001981	\N	"" []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	213903	\N	\N	EFO	1	EFO	Aminoacylase deficiency	Aminoacylase 1 deficiency
Orphanet:79158	Orphanet:308448	\N	"" []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	567820	\N	\N	EFO	2	EFO	Cerebral organic aciduria	Aminoacylase 1 deficiency
Orphanet:289899	Orphanet:79158	\N	"" []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	1149305	\N	\N	EFO	3	EFO	Organic aciduria	Aminoacylase 1 deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	2031525	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Aminoacylase 1 deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	3182095	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Aminoacylase 1 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	4390243	\N	\N	EFO	6	EFO	genetic disorder	Aminoacylase 1 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	4390244	\N	\N	EFO	6	EFO	metabolic disease	Aminoacylase 1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	5409649	\N	\N	EFO	7	EFO	disease	Aminoacylase 1 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	5409650	\N	\N	EFO	7	EFO	disease	Aminoacylase 1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	6147722	\N	\N	EFO	8	EFO	disposition	Aminoacylase 1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	6631902	\N	\N	EFO	9	EFO	material property	Aminoacylase 1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001981	"Deficiency of the aminoacylase-1 enzyme" []	6925328	\N	\N	EFO	10	EFO	experimental factor	Aminoacylase 1 deficiency
EFO:1001982	\N	\N	"Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD, see this term), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." []	EFO:1001982	"Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD, see this term), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." []	71324	\N	\N	EFO	0	EFO	Antisynthetase syndrome	Antisynthetase syndrome
EFO:0000783	EFO:1001982	\N	"Inflammation of a muscle or muscle tissue." []	EFO:1001982	"Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD, see this term), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." []	213904	\N	\N	EFO	1	EFO	myositis	Antisynthetase syndrome
EFO:0000540	EFO:0000783	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001982	"Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD, see this term), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." []	567821	\N	\N	EFO	2	EFO	immune system disease	Antisynthetase syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001982	"Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD, see this term), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." []	1149306	\N	\N	EFO	3	EFO	disease	Antisynthetase syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001982	"Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD, see this term), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." []	2031526	\N	\N	EFO	4	EFO	disposition	Antisynthetase syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001982	"Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD, see this term), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." []	3182096	\N	\N	EFO	5	EFO	material property	Antisynthetase syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001982	"Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD, see this term), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." []	4390245	\N	\N	EFO	6	EFO	experimental factor	Antisynthetase syndrome
EFO:1001983	\N	\N	"" []	EFO:1001983	"" []	71325	\N	\N	EFO	0	EFO	Autosomal recessive Charcot Marie Tooth disease type 2X	Autosomal recessive Charcot Marie Tooth disease type 2X
Orphanet:64746	EFO:1001983	\N	"" []	EFO:1001983	"" []	213905	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal recessive Charcot Marie Tooth disease type 2X
Orphanet:140456	Orphanet:64746	\N	"" []	EFO:1001983	"" []	567822	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal recessive Charcot Marie Tooth disease type 2X
Orphanet:166	Orphanet:64746	\N	"" []	EFO:1001983	"" []	567823	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal recessive Charcot Marie Tooth disease type 2X
Orphanet:140450	Orphanet:140456	\N	"" []	EFO:1001983	"" []	1149307	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal recessive Charcot Marie Tooth disease type 2X
Orphanet:98497	Orphanet:166	\N	"" []	EFO:1001983	"" []	1149308	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal recessive Charcot Marie Tooth disease type 2X
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	EFO:1001983	"" []	2031527	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal recessive Charcot Marie Tooth disease type 2X
Orphanet:98497	Orphanet:140450	\N	"" []	EFO:1001983	"" []	2031528	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal recessive Charcot Marie Tooth disease type 2X
Orphanet:71859	Orphanet:98497	\N	"" []	EFO:1001983	"" []	3182098	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive Charcot Marie Tooth disease type 2X
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:1001983	"" []	3182097	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive Charcot Marie Tooth disease type 2X
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001983	"" []	4133172	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive Charcot Marie Tooth disease type 2X
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001983	"" []	4390246	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive Charcot Marie Tooth disease type 2X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001983	"" []	5181410	\N	\N	EFO	7	EFO	disease	Autosomal recessive Charcot Marie Tooth disease type 2X
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001983	"" []	5409651	\N	\N	EFO	7	EFO	disease	Autosomal recessive Charcot Marie Tooth disease type 2X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001983	"" []	5996804	\N	\N	EFO	8	EFO	disposition	Autosomal recessive Charcot Marie Tooth disease type 2X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001983	"" []	6550434	\N	\N	EFO	9	EFO	material property	Autosomal recessive Charcot Marie Tooth disease type 2X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001983	"" []	6888988	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive Charcot Marie Tooth disease type 2X
EFO:1001984	\N	\N	"Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]" []	EFO:1001984	"Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]" []	71326	\N	\N	EFO	0	EFO	cardiac amyloidosis	cardiac amyloidosis
EFO:1001875	EFO:1001984	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	EFO:1001984	"Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]" []	213906	\N	\N	EFO	1	EFO	amyloidosis	cardiac amyloidosis
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	EFO:1001984	"Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]" []	567824	\N	\N	EFO	2	EFO	acquired metabolic disease	cardiac amyloidosis
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	EFO:1001984	"Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]" []	1149309	\N	\N	EFO	3	EFO	metabolic disease	cardiac amyloidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001984	"Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]" []	2031530	\N	\N	EFO	4	EFO	disease	cardiac amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001984	"Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]" []	3182100	\N	\N	EFO	5	EFO	disposition	cardiac amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001984	"Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]" []	4390248	\N	\N	EFO	6	EFO	material property	cardiac amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001984	"Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]" []	5409653	\N	\N	EFO	7	EFO	experimental factor	cardiac amyloidosis
EFO:1001985	\N	\N	"" []	EFO:1001985	"" []	71327	\N	\N	EFO	0	EFO	congenital fibrosis of the extraocular musclesCongenital fibrosis of extraocular muscles	congenital fibrosis of the extraocular musclesCongenital fibrosis of extraocular muscles
EFO:1001990	EFO:1001985	\N	"" []	EFO:1001985	"" []	213907	\N	\N	EFO	1	EFO	ocular motility disease	congenital fibrosis of the extraocular musclesCongenital fibrosis of extraocular muscles
EFO:0003966	EFO:1001990	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001985	"" []	567825	\N	\N	EFO	2	EFO	eye disease	congenital fibrosis of the extraocular musclesCongenital fibrosis of extraocular muscles
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001985	"" []	1149310	\N	\N	EFO	3	EFO	disease	congenital fibrosis of the extraocular musclesCongenital fibrosis of extraocular muscles
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001985	"" []	2031531	\N	\N	EFO	4	EFO	disposition	congenital fibrosis of the extraocular musclesCongenital fibrosis of extraocular muscles
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001985	"" []	3182101	\N	\N	EFO	5	EFO	material property	congenital fibrosis of the extraocular musclesCongenital fibrosis of extraocular muscles
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001985	"" []	4390249	\N	\N	EFO	6	EFO	experimental factor	congenital fibrosis of the extraocular musclesCongenital fibrosis of extraocular muscles
EFO:1001986	\N	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	EFO:1001986	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	71328	\N	\N	EFO	0	EFO	connective tissue disease	connective tissue disease
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	EFO:1001986	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	213908	\N	\N	EFO	1	EFO	skeletal system disease	connective tissue disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001986	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	567826	\N	\N	EFO	2	EFO	disease	connective tissue disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001986	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	1149311	\N	\N	EFO	3	EFO	disposition	connective tissue disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001986	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	2031532	\N	\N	EFO	4	EFO	material property	connective tissue disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001986	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	3182102	\N	\N	EFO	5	EFO	experimental factor	connective tissue disease
EFO:1001987	\N	\N	"Dropped head syndrome (DHS) is characterized by severe kyphotic deformity of the cervico-thoracic spine. [ PMID:23637681 ]" []	EFO:1001987	"Dropped head syndrome (DHS) is characterized by severe kyphotic deformity of the cervico-thoracic spine. [ PMID:23637681 ]" []	71329	\N	\N	EFO	0	EFO	dropped head syndrome	dropped head syndrome
EFO:0002970	EFO:1001987	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1001987	"Dropped head syndrome (DHS) is characterized by severe kyphotic deformity of the cervico-thoracic spine. [ PMID:23637681 ]" []	213909	\N	\N	EFO	1	EFO	muscular disease	dropped head syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1001987	"Dropped head syndrome (DHS) is characterized by severe kyphotic deformity of the cervico-thoracic spine. [ PMID:23637681 ]" []	567827	\N	\N	EFO	2	EFO	skeletal system disease	dropped head syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001987	"Dropped head syndrome (DHS) is characterized by severe kyphotic deformity of the cervico-thoracic spine. [ PMID:23637681 ]" []	1149312	\N	\N	EFO	3	EFO	disease	dropped head syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001987	"Dropped head syndrome (DHS) is characterized by severe kyphotic deformity of the cervico-thoracic spine. [ PMID:23637681 ]" []	2031533	\N	\N	EFO	4	EFO	disposition	dropped head syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001987	"Dropped head syndrome (DHS) is characterized by severe kyphotic deformity of the cervico-thoracic spine. [ PMID:23637681 ]" []	3182103	\N	\N	EFO	5	EFO	material property	dropped head syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001987	"Dropped head syndrome (DHS) is characterized by severe kyphotic deformity of the cervico-thoracic spine. [ PMID:23637681 ]" []	4390250	\N	\N	EFO	6	EFO	experimental factor	dropped head syndrome
EFO:1001988	\N	\N	"An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." []	EFO:1001988	"An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." []	71330	\N	\N	EFO	0	EFO	Juvenile Polymyositis	Juvenile Polymyositis
EFO:0003063	EFO:1001988	\N	"Polymyositis (PM)(\\"inflammation of many muscles\\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." []	EFO:1001988	"An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." []	213910	\N	\N	EFO	1	EFO	polymyositis	Juvenile Polymyositis
EFO:0000783	EFO:0003063	\N	"Inflammation of a muscle or muscle tissue." []	EFO:1001988	"An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." []	567828	\N	\N	EFO	2	EFO	myositis	Juvenile Polymyositis
EFO:0000540	EFO:0000783	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001988	"An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." []	1149313	\N	\N	EFO	3	EFO	immune system disease	Juvenile Polymyositis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001988	"An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." []	2031534	\N	\N	EFO	4	EFO	disease	Juvenile Polymyositis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001988	"An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." []	3182104	\N	\N	EFO	5	EFO	disposition	Juvenile Polymyositis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001988	"An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." []	4390251	\N	\N	EFO	6	EFO	material property	Juvenile Polymyositis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001988	"An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." []	5409654	\N	\N	EFO	7	EFO	experimental factor	Juvenile Polymyositis
EFO:1001989	\N	\N	"" []	EFO:1001989	"" []	71331	\N	\N	EFO	0	EFO	Monomelic amyotrophy	Monomelic amyotrophy
EFO:0003782	EFO:1001989	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	EFO:1001989	"" []	213911	\N	\N	EFO	1	EFO	motor neuron disease	Monomelic amyotrophy
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	EFO:1001989	"" []	567829	\N	\N	EFO	2	EFO	neurodegenerative disease	Monomelic amyotrophy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001989	"" []	1149314	\N	\N	EFO	3	EFO	nervous system disease	Monomelic amyotrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001989	"" []	2031535	\N	\N	EFO	4	EFO	disease	Monomelic amyotrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001989	"" []	3182105	\N	\N	EFO	5	EFO	disposition	Monomelic amyotrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001989	"" []	4390252	\N	\N	EFO	6	EFO	material property	Monomelic amyotrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001989	"" []	5409655	\N	\N	EFO	7	EFO	experimental factor	Monomelic amyotrophy
EFO:1001990	\N	\N	"" []	EFO:1001990	"" []	71332	\N	\N	EFO	0	EFO	ocular motility disease	ocular motility disease
EFO:0003966	EFO:1001990	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001990	"" []	213912	\N	\N	EFO	1	EFO	eye disease	ocular motility disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001990	"" []	567830	\N	\N	EFO	2	EFO	disease	ocular motility disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001990	"" []	1149315	\N	\N	EFO	3	EFO	disposition	ocular motility disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001990	"" []	2031536	\N	\N	EFO	4	EFO	material property	ocular motility disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001990	"" []	3182106	\N	\N	EFO	5	EFO	experimental factor	ocular motility disease
EFO:1001991	\N	\N	"An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" []	EFO:1001991	"An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" []	71333	\N	\N	EFO	0	EFO	pneumonitis	pneumonitis
EFO:0003106	EFO:1001991	\N	"A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." []	EFO:1001991	"An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" []	213913	\N	\N	EFO	1	EFO	pneumonia	pneumonitis
EFO:0003818	EFO:0003106	\N	"Pathological processes involving any part of the LUNG." []	EFO:1001991	"An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" []	567831	\N	\N	EFO	2	EFO	lung disease	pneumonitis
EFO:0005741	EFO:0003106	\N	"A disease whose physical basis is an infectious agent" []	EFO:1001991	"An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" []	567832	\N	\N	EFO	2	EFO	infectious disease	pneumonitis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1001991	"An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" []	1149316	\N	\N	EFO	3	EFO	respiratory system disease	pneumonitis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001991	"An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" []	1149317	\N	\N	EFO	3	EFO	disease	pneumonitis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001991	"An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" []	2031537	\N	\N	EFO	4	EFO	disease	pneumonitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001991	"An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" []	3182107	\N	\N	EFO	5	EFO	disposition	pneumonitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001991	"An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" []	4133173	\N	\N	EFO	6	EFO	material property	pneumonitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001991	"An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ]" []	5181411	\N	\N	EFO	7	EFO	experimental factor	pneumonitis
EFO:1001992	\N	\N	"" []	EFO:1001992	"" []	71334	\N	\N	EFO	0	EFO	Scapuloperoneal spinal muscular atrophy	Scapuloperoneal spinal muscular atrophy
Orphanet:98505	EFO:1001992	\N	"" []	EFO:1001992	"" []	213914	\N	\N	EFO	1	EFO	Genetic motor neuron disease	Scapuloperoneal spinal muscular atrophy
Orphanet:183497	Orphanet:98505	\N	"" []	EFO:1001992	"" []	567833	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Scapuloperoneal spinal muscular atrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	EFO:1001992	"" []	1149318	\N	\N	EFO	3	EFO	muscular disease	Scapuloperoneal spinal muscular atrophy
Orphanet:71859	Orphanet:183497	\N	"" []	EFO:1001992	"" []	1149319	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Scapuloperoneal spinal muscular atrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	EFO:1001992	"" []	2031539	\N	\N	EFO	4	EFO	skeletal system disease	Scapuloperoneal spinal muscular atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001992	"" []	2031540	\N	\N	EFO	4	EFO	genetic disorder	Scapuloperoneal spinal muscular atrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001992	"" []	3182109	\N	\N	EFO	5	EFO	disease	Scapuloperoneal spinal muscular atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001992	"" []	3182110	\N	\N	EFO	5	EFO	disease	Scapuloperoneal spinal muscular atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001992	"" []	4390254	\N	\N	EFO	6	EFO	disposition	Scapuloperoneal spinal muscular atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001992	"" []	5409656	\N	\N	EFO	7	EFO	material property	Scapuloperoneal spinal muscular atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001992	"" []	6147724	\N	\N	EFO	8	EFO	experimental factor	Scapuloperoneal spinal muscular atrophy
EFO:1001993	\N	\N	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	71335	\N	\N	EFO	0	EFO	scleroderma	scleroderma
Orphanet:98702	EFO:1001993	\N	"" []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	213915	\N	\N	EFO	1	EFO	Connective tissue disease with eye involvement	scleroderma
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	567834	\N	\N	EFO	2	EFO	connective tissue disease	scleroderma
Orphanet:101435	Orphanet:98702	\N	"" []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	567835	\N	\N	EFO	2	EFO	Rare genetic eye disease	scleroderma
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	1149320	\N	\N	EFO	3	EFO	skeletal system disease	scleroderma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	1149321	\N	\N	EFO	3	EFO	genetic disorder	scleroderma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	1149322	\N	\N	EFO	3	EFO	eye disease	scleroderma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	2031541	\N	\N	EFO	4	EFO	disease	scleroderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	2031542	\N	\N	EFO	4	EFO	disease	scleroderma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	2031543	\N	\N	EFO	4	EFO	disease	scleroderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	3182111	\N	\N	EFO	5	EFO	disposition	scleroderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	4390255	\N	\N	EFO	6	EFO	material property	scleroderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001993	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	5409657	\N	\N	EFO	7	EFO	experimental factor	scleroderma
EFO:1001994	\N	\N	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	71336	\N	\N	EFO	0	EFO	Scleroderma Polymyositis Overlap Syndrome	Scleroderma Polymyositis Overlap Syndrome
EFO:0003063	EFO:1001994	\N	"Polymyositis (PM)(\\"inflammation of many muscles\\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	213916	\N	\N	EFO	1	EFO	polymyositis	Scleroderma Polymyositis Overlap Syndrome
EFO:1001993	EFO:1001994	\N	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	213917	\N	\N	EFO	1	EFO	scleroderma	Scleroderma Polymyositis Overlap Syndrome
EFO:0000783	EFO:0003063	\N	"Inflammation of a muscle or muscle tissue." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	567836	\N	\N	EFO	2	EFO	myositis	Scleroderma Polymyositis Overlap Syndrome
Orphanet:98702	EFO:1001993	\N	"" []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	567837	\N	\N	EFO	2	EFO	Connective tissue disease with eye involvement	Scleroderma Polymyositis Overlap Syndrome
EFO:0000540	EFO:0000783	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	1149323	\N	\N	EFO	3	EFO	immune system disease	Scleroderma Polymyositis Overlap Syndrome
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	1149324	\N	\N	EFO	3	EFO	connective tissue disease	Scleroderma Polymyositis Overlap Syndrome
Orphanet:101435	Orphanet:98702	\N	"" []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	1149325	\N	\N	EFO	3	EFO	Rare genetic eye disease	Scleroderma Polymyositis Overlap Syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	2031544	\N	\N	EFO	4	EFO	disease	Scleroderma Polymyositis Overlap Syndrome
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	2031545	\N	\N	EFO	4	EFO	skeletal system disease	Scleroderma Polymyositis Overlap Syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	2031546	\N	\N	EFO	4	EFO	genetic disorder	Scleroderma Polymyositis Overlap Syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	2031547	\N	\N	EFO	4	EFO	eye disease	Scleroderma Polymyositis Overlap Syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	4390257	\N	\N	EFO	6	EFO	disposition	Scleroderma Polymyositis Overlap Syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	3182113	\N	\N	EFO	5	EFO	disease	Scleroderma Polymyositis Overlap Syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	3182114	\N	\N	EFO	5	EFO	disease	Scleroderma Polymyositis Overlap Syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	3182115	\N	\N	EFO	5	EFO	disease	Scleroderma Polymyositis Overlap Syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	5181412	\N	\N	EFO	7	EFO	material property	Scleroderma Polymyositis Overlap Syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001994	"A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis." []	5996805	\N	\N	EFO	8	EFO	experimental factor	Scleroderma Polymyositis Overlap Syndrome
EFO:1001995	\N	\N	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	71337	\N	\N	EFO	0	EFO	Sclerodermatomyositis	Sclerodermatomyositis
EFO:0000398	EFO:1001995	\N	"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)" []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	213918	\N	\N	EFO	1	EFO	dermatomyositis	Sclerodermatomyositis
EFO:0003063	EFO:1001995	\N	"Polymyositis (PM)(\\"inflammation of many muscles\\") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	213919	\N	\N	EFO	1	EFO	polymyositis	Sclerodermatomyositis
EFO:1001993	EFO:1001995	\N	"A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic)." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	213920	\N	\N	EFO	1	EFO	scleroderma	Sclerodermatomyositis
EFO:0000701	EFO:0000398	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	567838	\N	\N	EFO	2	EFO	skin disease	Sclerodermatomyositis
EFO:0000783	EFO:0000398	\N	"Inflammation of a muscle or muscle tissue." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	567839	\N	\N	EFO	2	EFO	myositis	Sclerodermatomyositis
EFO:0000783	EFO:0003063	\N	"Inflammation of a muscle or muscle tissue." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	567840	\N	\N	EFO	2	EFO	myositis	Sclerodermatomyositis
Orphanet:98702	EFO:1001993	\N	"" []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	567841	\N	\N	EFO	2	EFO	Connective tissue disease with eye involvement	Sclerodermatomyositis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	1149326	\N	\N	EFO	3	EFO	disease	Sclerodermatomyositis
EFO:0000540	EFO:0000783	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	1149327	\N	\N	EFO	3	EFO	immune system disease	Sclerodermatomyositis
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	1149328	\N	\N	EFO	3	EFO	connective tissue disease	Sclerodermatomyositis
Orphanet:101435	Orphanet:98702	\N	"" []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	1149329	\N	\N	EFO	3	EFO	Rare genetic eye disease	Sclerodermatomyositis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	4390259	\N	\N	EFO	6	EFO	disposition	Sclerodermatomyositis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	2031549	\N	\N	EFO	4	EFO	disease	Sclerodermatomyositis
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	2031550	\N	\N	EFO	4	EFO	skeletal system disease	Sclerodermatomyositis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	2031551	\N	\N	EFO	4	EFO	genetic disorder	Sclerodermatomyositis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	2031552	\N	\N	EFO	4	EFO	eye disease	Sclerodermatomyositis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	5059531	\N	\N	EFO	7	EFO	material property	Sclerodermatomyositis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	3182118	\N	\N	EFO	5	EFO	disease	Sclerodermatomyositis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	3182119	\N	\N	EFO	5	EFO	disease	Sclerodermatomyositis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	3182120	\N	\N	EFO	5	EFO	disease	Sclerodermatomyositis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001995	"Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]" []	5876676	\N	\N	EFO	8	EFO	experimental factor	Sclerodermatomyositis
EFO:1001996	\N	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	EFO:1001996	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	71338	\N	\N	EFO	0	EFO	Thalassemia	Thalassemia
Orphanet:68364	EFO:1001996	\N	"" []	EFO:1001996	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	213921	\N	\N	EFO	1	EFO	Hemoglobinopathy	Thalassemia
Orphanet:183651	Orphanet:68364	\N	"" []	EFO:1001996	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	567842	\N	\N	EFO	2	EFO	Rare constitutional anemia	Thalassemia
Orphanet:158300	Orphanet:183651	\N	"" []	EFO:1001996	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	1149330	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Thalassemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001996	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	2031553	\N	\N	EFO	4	EFO	genetic disorder	Thalassemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	EFO:1001996	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	2031554	\N	\N	EFO	4	EFO	hematological system disease	Thalassemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001996	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	3182121	\N	\N	EFO	5	EFO	disease	Thalassemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001996	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	3182122	\N	\N	EFO	5	EFO	disease	Thalassemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001996	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	4390260	\N	\N	EFO	6	EFO	disposition	Thalassemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001996	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	5409659	\N	\N	EFO	7	EFO	material property	Thalassemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001996	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	6147725	\N	\N	EFO	8	EFO	experimental factor	Thalassemia
EFO:1001997	\N	\N	"" []	EFO:1001997	"" []	71339	\N	\N	EFO	0	EFO	triple-A syndrome	triple-A syndrome
Orphanet:101960	EFO:1001997	\N	"" []	EFO:1001997	"" []	213922	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	triple-A syndrome
Orphanet:183637	Orphanet:101960	\N	"" []	EFO:1001997	"" []	567843	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	triple-A syndrome
Orphanet:156638	Orphanet:183637	\N	"" []	EFO:1001997	"" []	1149331	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	triple-A syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	EFO:1001997	"" []	2031555	\N	\N	EFO	4	EFO	genetic disorder	triple-A syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1001997	"" []	2031556	\N	\N	EFO	4	EFO	endocrine system disease	triple-A syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001997	"" []	3182123	\N	\N	EFO	5	EFO	disease	triple-A syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001997	"" []	3182124	\N	\N	EFO	5	EFO	disease	triple-A syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001997	"" []	4390261	\N	\N	EFO	6	EFO	disposition	triple-A syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001997	"" []	5409660	\N	\N	EFO	7	EFO	material property	triple-A syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001997	"" []	6147726	\N	\N	EFO	8	EFO	experimental factor	triple-A syndrome
EFO:1001998	\N	\N	"Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." []	EFO:1001998	"Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." []	71340	\N	\N	EFO	0	EFO	complex regional pain syndrome	complex regional pain syndrome
EFO:0000618	EFO:1001998	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1001998	"Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." []	213923	\N	\N	EFO	1	EFO	nervous system disease	complex regional pain syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001998	"Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." []	567844	\N	\N	EFO	2	EFO	disease	complex regional pain syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001998	"Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." []	1149332	\N	\N	EFO	3	EFO	disposition	complex regional pain syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001998	"Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." []	2031557	\N	\N	EFO	4	EFO	material property	complex regional pain syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001998	"Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." []	3182125	\N	\N	EFO	5	EFO	experimental factor	complex regional pain syndrome
EFO:1001999	\N	\N	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	71341	\N	\N	EFO	0	EFO	systemic juvenile idiopathic arthritis	systemic juvenile idiopathic arthritis
EFO:0002609	EFO:1001999	\N	"Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form." []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	213924	\N	\N	EFO	1	EFO	chronic childhood arthritis	systemic juvenile idiopathic arthritis
EFO:0000685	EFO:0002609	\N	"Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints." []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	567845	\N	\N	EFO	2	EFO	rheumatoid arthritis	systemic juvenile idiopathic arthritis
EFO:0005856	EFO:0000685	\N	"Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints." []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	1149333	\N	\N	EFO	3	EFO	arthritis	systemic juvenile idiopathic arthritis
EFO:0005140	EFO:0005856	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	2031558	\N	\N	EFO	4	EFO	autoimmune disease	systemic juvenile idiopathic arthritis
EFO:0005755	EFO:0005856	\N	"A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	2031559	\N	\N	EFO	4	EFO	rheumatic disease	systemic juvenile idiopathic arthritis
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	3182126	\N	\N	EFO	5	EFO	immune system disease	systemic juvenile idiopathic arthritis
EFO:0002461	EFO:0005755	\N	"Any disease which affects part of the skeletal system." []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	3182127	\N	\N	EFO	5	EFO	skeletal system disease	systemic juvenile idiopathic arthritis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	4390262	\N	\N	EFO	6	EFO	disease	systemic juvenile idiopathic arthritis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	4390263	\N	\N	EFO	6	EFO	disease	systemic juvenile idiopathic arthritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	5409661	\N	\N	EFO	7	EFO	disposition	systemic juvenile idiopathic arthritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	6147727	\N	\N	EFO	8	EFO	material property	systemic juvenile idiopathic arthritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1001999	"Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." []	6631904	\N	\N	EFO	9	EFO	experimental factor	systemic juvenile idiopathic arthritis
EFO:1002000	\N	\N	"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." []	EFO:1002000	"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." []	71342	\N	\N	EFO	0	EFO	Takotsubo cardiomyopathy	Takotsubo cardiomyopathy
EFO:0000318	EFO:1002000	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	EFO:1002000	"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." []	213925	\N	\N	EFO	1	EFO	cardiomyopathy	Takotsubo cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	EFO:1002000	"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." []	567846	\N	\N	EFO	2	EFO	heart disease	Takotsubo cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1002000	"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." []	1149334	\N	\N	EFO	3	EFO	cardiovascular disease	Takotsubo cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002000	"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." []	2031560	\N	\N	EFO	4	EFO	disease	Takotsubo cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002000	"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." []	3182128	\N	\N	EFO	5	EFO	disposition	Takotsubo cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002000	"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." []	4390264	\N	\N	EFO	6	EFO	material property	Takotsubo cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002000	"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." []	5409662	\N	\N	EFO	7	EFO	experimental factor	Takotsubo cardiomyopathy
EFO:1002001	\N	\N	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	71343	\N	\N	EFO	0	EFO	core binding factor acute myeloid leukemia	core binding factor acute myeloid leukemia
EFO:0000222	EFO:1002001	\N	"Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	213926	\N	\N	EFO	1	EFO	acute myeloid leukemia	core binding factor acute myeloid leukemia
EFO:0002427	EFO:0000222	\N	"A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	567847	\N	\N	EFO	2	EFO	myeloid neoplasm	core binding factor acute myeloid leukemia
EFO:1000068	EFO:0000222	\N	"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	567848	\N	\N	EFO	2	EFO	Acute Leukemia	core binding factor acute myeloid leukemia
EFO:0001642	EFO:0002427	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	1149335	\N	\N	EFO	3	EFO	lymphoid neoplasm	core binding factor acute myeloid leukemia
EFO:0000565	EFO:1000068	\N	"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)" []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	1149336	\N	\N	EFO	3	EFO	leukemia	core binding factor acute myeloid leukemia
EFO:0000311	EFO:0001642	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	3182131	\N	\N	EFO	5	EFO	cancer	core binding factor acute myeloid leukemia
EFO:0005803	EFO:0001642	\N	"Disorders of the blood and blood forming tissues." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	3182132	\N	\N	EFO	5	EFO	hematological system disease	core binding factor acute myeloid leukemia
EFO:0001642	EFO:0000565	\N	"Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	2031563	\N	\N	EFO	4	EFO	lymphoid neoplasm	core binding factor acute myeloid leukemia
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	4133175	\N	\N	EFO	6	EFO	neoplasm	core binding factor acute myeloid leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	4133176	\N	\N	EFO	6	EFO	disease	core binding factor acute myeloid leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	5181414	\N	\N	EFO	7	EFO	disease	core binding factor acute myeloid leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	5996806	\N	\N	EFO	8	EFO	disposition	core binding factor acute myeloid leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	6469883	\N	\N	EFO	9	EFO	material property	core binding factor acute myeloid leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002001	"Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." []	6848228	\N	\N	EFO	10	EFO	experimental factor	core binding factor acute myeloid leukemia
EFO:1002002	\N	\N	"a noncardiogenic form of pulmonary edema that develops in unacclimatized healthy individuals at altitudes above 25003000 m" []	EFO:1002002	"a noncardiogenic form of pulmonary edema that develops in unacclimatized healthy individuals at altitudes above 25003000 m" []	71344	\N	\N	EFO	0	EFO	high altitude pulmonary edema	high altitude pulmonary edema
EFO:1001134	EFO:1002002	\N	"Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening." []	EFO:1002002	"a noncardiogenic form of pulmonary edema that develops in unacclimatized healthy individuals at altitudes above 25003000 m" []	213927	\N	\N	EFO	1	EFO	pulmonary edema	high altitude pulmonary edema
EFO:0000684	EFO:1001134	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1002002	"a noncardiogenic form of pulmonary edema that develops in unacclimatized healthy individuals at altitudes above 25003000 m" []	567849	\N	\N	EFO	2	EFO	respiratory system disease	high altitude pulmonary edema
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002002	"a noncardiogenic form of pulmonary edema that develops in unacclimatized healthy individuals at altitudes above 25003000 m" []	1149337	\N	\N	EFO	3	EFO	disease	high altitude pulmonary edema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002002	"a noncardiogenic form of pulmonary edema that develops in unacclimatized healthy individuals at altitudes above 25003000 m" []	2031564	\N	\N	EFO	4	EFO	disposition	high altitude pulmonary edema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002002	"a noncardiogenic form of pulmonary edema that develops in unacclimatized healthy individuals at altitudes above 25003000 m" []	3182133	\N	\N	EFO	5	EFO	material property	high altitude pulmonary edema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002002	"a noncardiogenic form of pulmonary edema that develops in unacclimatized healthy individuals at altitudes above 25003000 m" []	4390267	\N	\N	EFO	6	EFO	experimental factor	high altitude pulmonary edema
EFO:1002003	\N	\N	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	EFO:1002003	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	71345	\N	\N	EFO	0	EFO	hypersensitivity reaction disease	hypersensitivity reaction disease
EFO:0000540	EFO:1002003	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1002003	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	213928	\N	\N	EFO	1	EFO	immune system disease	hypersensitivity reaction disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002003	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	567850	\N	\N	EFO	2	EFO	disease	hypersensitivity reaction disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002003	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	1149338	\N	\N	EFO	3	EFO	disposition	hypersensitivity reaction disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002003	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	2031565	\N	\N	EFO	4	EFO	material property	hypersensitivity reaction disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002003	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	3182134	\N	\N	EFO	5	EFO	experimental factor	hypersensitivity reaction disease
EFO:1002004	\N	\N	"Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)." []	EFO:1002004	"Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)." []	71346	\N	\N	EFO	0	EFO	drug hypersensitivity sydrome	drug hypersensitivity sydrome
EFO:1002003	EFO:1002004	\N	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	EFO:1002004	"Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)." []	213929	\N	\N	EFO	1	EFO	hypersensitivity reaction disease	drug hypersensitivity sydrome
EFO:0000540	EFO:1002003	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	EFO:1002004	"Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)." []	567851	\N	\N	EFO	2	EFO	immune system disease	drug hypersensitivity sydrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002004	"Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)." []	1149339	\N	\N	EFO	3	EFO	disease	drug hypersensitivity sydrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002004	"Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)." []	2031566	\N	\N	EFO	4	EFO	disposition	drug hypersensitivity sydrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002004	"Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)." []	3182135	\N	\N	EFO	5	EFO	material property	drug hypersensitivity sydrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002004	"Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)." []	4390268	\N	\N	EFO	6	EFO	experimental factor	drug hypersensitivity sydrome
EFO:1002005	\N	\N	"herniation or displacement of an intervertebral disc in the lumbar spinal region" []	EFO:1002005	"herniation or displacement of an intervertebral disc in the lumbar spinal region" []	71347	\N	\N	EFO	0	EFO	lumbar disc herniation	lumbar disc herniation
EFO:1001800	EFO:1002005	\N	"An INTERVERTEBRAL DISC in which the nucleus pulposus has protruded through surrounding fibrocartilage. This occurs most frequently in the lower lumbar region." []	EFO:1002005	"herniation or displacement of an intervertebral disc in the lumbar spinal region" []	213930	\N	\N	EFO	1	EFO	Intervertebral Disc Displacement	lumbar disc herniation
EFO:0004260	EFO:1001800	\N	"Diseases of BONES." []	EFO:1002005	"herniation or displacement of an intervertebral disc in the lumbar spinal region" []	567852	\N	\N	EFO	2	EFO	bone disease	lumbar disc herniation
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	EFO:1002005	"herniation or displacement of an intervertebral disc in the lumbar spinal region" []	1149340	\N	\N	EFO	3	EFO	skeletal system disease	lumbar disc herniation
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002005	"herniation or displacement of an intervertebral disc in the lumbar spinal region" []	2031567	\N	\N	EFO	4	EFO	disease	lumbar disc herniation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002005	"herniation or displacement of an intervertebral disc in the lumbar spinal region" []	3182136	\N	\N	EFO	5	EFO	disposition	lumbar disc herniation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002005	"herniation or displacement of an intervertebral disc in the lumbar spinal region" []	4390269	\N	\N	EFO	6	EFO	material property	lumbar disc herniation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002005	"herniation or displacement of an intervertebral disc in the lumbar spinal region" []	5409664	\N	\N	EFO	7	EFO	experimental factor	lumbar disc herniation
EFO:1002006	\N	\N	"high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes" []	EFO:1002006	"high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes" []	71348	\N	\N	EFO	0	EFO	treatment-resistant hypertension	treatment-resistant hypertension
EFO:0000537	EFO:1002006	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	EFO:1002006	"high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes" []	213931	\N	\N	EFO	1	EFO	hypertension	treatment-resistant hypertension
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	EFO:1002006	"high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes" []	567853	\N	\N	EFO	2	EFO	cardiovascular disease	treatment-resistant hypertension
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002006	"high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes" []	1149341	\N	\N	EFO	3	EFO	disease	treatment-resistant hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002006	"high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes" []	2031568	\N	\N	EFO	4	EFO	disposition	treatment-resistant hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002006	"high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes" []	3182137	\N	\N	EFO	5	EFO	material property	treatment-resistant hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002006	"high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes" []	4390270	\N	\N	EFO	6	EFO	experimental factor	treatment-resistant hypertension
EFO:1002008	\N	\N	"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia." []	EFO:1002008	"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia." []	71349	\N	\N	EFO	0	EFO	atypical teratoid rhabdoid tumor	atypical teratoid rhabdoid tumor
EFO:1001968	EFO:1002008	\N	"A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." []	EFO:1002008	"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia." []	213932	\N	\N	EFO	1	EFO	soft tissue sarcoma	atypical teratoid rhabdoid tumor
EFO:0000691	EFO:1001968	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	EFO:1002008	"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia." []	567854	\N	\N	EFO	2	EFO	sarcoma	atypical teratoid rhabdoid tumor
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1002008	"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia." []	1149342	\N	\N	EFO	3	EFO	cancer	atypical teratoid rhabdoid tumor
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1002008	"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia." []	2031569	\N	\N	EFO	4	EFO	neoplasm	atypical teratoid rhabdoid tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002008	"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia." []	3182138	\N	\N	EFO	5	EFO	disease	atypical teratoid rhabdoid tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002008	"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia." []	4390271	\N	\N	EFO	6	EFO	disposition	atypical teratoid rhabdoid tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002008	"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia." []	5409665	\N	\N	EFO	7	EFO	material property	atypical teratoid rhabdoid tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002008	"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia." []	6147729	\N	\N	EFO	8	EFO	experimental factor	atypical teratoid rhabdoid tumor
EFO:1002009	\N	\N	"Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 4060 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.00450.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellowwhite parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.061.18% of the general population." []	EFO:1002009	"Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 4060 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.00450.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellowwhite parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.061.18% of the general population." []	71350	\N	\N	EFO	0	EFO	macular telangiectasia type 2	macular telangiectasia type 2
EFO:0003839	EFO:1002009	\N	"Any disease or disorder of the retina." []	EFO:1002009	"Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 4060 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.00450.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellowwhite parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.061.18% of the general population." []	213933	\N	\N	EFO	1	EFO	retinopathy	macular telangiectasia type 2
EFO:0000524	EFO:0003839	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	EFO:1002009	"Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 4060 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.00450.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellowwhite parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.061.18% of the general population." []	567855	\N	\N	EFO	2	EFO	head disease	macular telangiectasia type 2
EFO:0003966	EFO:0003839	\N	"An eye and adnexa disease that is located in the eye." []	EFO:1002009	"Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 4060 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.00450.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellowwhite parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.061.18% of the general population." []	567856	\N	\N	EFO	2	EFO	eye disease	macular telangiectasia type 2
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002009	"Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 4060 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.00450.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellowwhite parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.061.18% of the general population." []	1149343	\N	\N	EFO	3	EFO	disease	macular telangiectasia type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002009	"Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 4060 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.00450.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellowwhite parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.061.18% of the general population." []	1149344	\N	\N	EFO	3	EFO	disease	macular telangiectasia type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002009	"Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 4060 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.00450.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellowwhite parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.061.18% of the general population." []	2031570	\N	\N	EFO	4	EFO	disposition	macular telangiectasia type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002009	"Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 4060 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.00450.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellowwhite parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.061.18% of the general population." []	3182139	\N	\N	EFO	5	EFO	material property	macular telangiectasia type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002009	"Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 4060 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.00450.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellowwhite parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.061.18% of the general population." []	4390272	\N	\N	EFO	6	EFO	experimental factor	macular telangiectasia type 2
EFO:1002010	\N	\N	"A biologic subset of breast carcinoma defined by high expression of TP53" []	EFO:1002010	"A biologic subset of breast carcinoma defined by high expression of TP53" []	71351	\N	\N	EFO	0	EFO	TP53 Positive Breast Carcinoma	TP53 Positive Breast Carcinoma
EFO:0000305	EFO:1002010	\N	"Tumors or cancer of the human BREAST." []	EFO:1002010	"A biologic subset of breast carcinoma defined by high expression of TP53" []	213934	\N	\N	EFO	1	EFO	breast carcinoma	TP53 Positive Breast Carcinoma
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1002010	"A biologic subset of breast carcinoma defined by high expression of TP53" []	567857	\N	\N	EFO	2	EFO	carcinoma	TP53 Positive Breast Carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1002010	"A biologic subset of breast carcinoma defined by high expression of TP53" []	1149345	\N	\N	EFO	3	EFO	cancer	TP53 Positive Breast Carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1002010	"A biologic subset of breast carcinoma defined by high expression of TP53" []	1149346	\N	\N	EFO	3	EFO	epithelial neoplasm	TP53 Positive Breast Carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1002010	"A biologic subset of breast carcinoma defined by high expression of TP53" []	2031571	\N	\N	EFO	4	EFO	neoplasm	TP53 Positive Breast Carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1002010	"A biologic subset of breast carcinoma defined by high expression of TP53" []	2031572	\N	\N	EFO	4	EFO	neoplasm	TP53 Positive Breast Carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002010	"A biologic subset of breast carcinoma defined by high expression of TP53" []	3182140	\N	\N	EFO	5	EFO	disease	TP53 Positive Breast Carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002010	"A biologic subset of breast carcinoma defined by high expression of TP53" []	4390273	\N	\N	EFO	6	EFO	disposition	TP53 Positive Breast Carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002010	"A biologic subset of breast carcinoma defined by high expression of TP53" []	5409666	\N	\N	EFO	7	EFO	material property	TP53 Positive Breast Carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002010	"A biologic subset of breast carcinoma defined by high expression of TP53" []	6147730	\N	\N	EFO	8	EFO	experimental factor	TP53 Positive Breast Carcinoma
EFO:1002011	\N	\N	"Asthma that starts in adulthood" []	EFO:1002011	"Asthma that starts in adulthood" []	71352	\N	\N	EFO	0	EFO	adult onset asthma	adult onset asthma
EFO:0000270	EFO:1002011	\N	"Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." []	EFO:1002011	"Asthma that starts in adulthood" []	213935	\N	\N	EFO	1	EFO	asthma	adult onset asthma
EFO:1002018	EFO:0000270	\N	"a respiratory system disease that has its manifestation in the bronchus" []	EFO:1002011	"Asthma that starts in adulthood" []	567858	\N	\N	EFO	2	EFO	bronchial disease	adult onset asthma
EFO:0000684	EFO:1002018	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1002011	"Asthma that starts in adulthood" []	1149347	\N	\N	EFO	3	EFO	respiratory system disease	adult onset asthma
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002011	"Asthma that starts in adulthood" []	2031573	\N	\N	EFO	4	EFO	disease	adult onset asthma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002011	"Asthma that starts in adulthood" []	3182141	\N	\N	EFO	5	EFO	disposition	adult onset asthma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002011	"Asthma that starts in adulthood" []	4390274	\N	\N	EFO	6	EFO	material property	adult onset asthma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002011	"Asthma that starts in adulthood" []	5409667	\N	\N	EFO	7	EFO	experimental factor	adult onset asthma
EFO:1002012	\N	\N	"Partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee." []	EFO:1002012	"Partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee." []	71353	\N	\N	EFO	0	EFO	ligament rupture	ligament rupture
EFO:1001986	EFO:1002012	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	EFO:1002012	"Partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee." []	213936	\N	\N	EFO	1	EFO	connective tissue disease	ligament rupture
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	EFO:1002012	"Partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee." []	567859	\N	\N	EFO	2	EFO	skeletal system disease	ligament rupture
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002012	"Partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee." []	1149348	\N	\N	EFO	3	EFO	disease	ligament rupture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002012	"Partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee." []	2031574	\N	\N	EFO	4	EFO	disposition	ligament rupture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002012	"Partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee." []	3182142	\N	\N	EFO	5	EFO	material property	ligament rupture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002012	"Partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee." []	4390275	\N	\N	EFO	6	EFO	experimental factor	ligament rupture
EFO:1002013	\N	\N	"Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." []	EFO:1002013	"Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." []	71354	\N	\N	EFO	0	EFO	alcoholic pancreatitis	alcoholic pancreatitis
EFO:0000278	EFO:1002013	\N	"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." []	EFO:1002013	"Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." []	213937	\N	\N	EFO	1	EFO	pancreatitis	alcoholic pancreatitis
EFO:0000405	EFO:0000278	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	EFO:1002013	"Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." []	567860	\N	\N	EFO	2	EFO	digestive system disease	alcoholic pancreatitis
EFO:0001379	EFO:0000278	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1002013	"Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." []	567861	\N	\N	EFO	2	EFO	endocrine system disease	alcoholic pancreatitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002013	"Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." []	1149349	\N	\N	EFO	3	EFO	disease	alcoholic pancreatitis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002013	"Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." []	1149350	\N	\N	EFO	3	EFO	disease	alcoholic pancreatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002013	"Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." []	2031575	\N	\N	EFO	4	EFO	disposition	alcoholic pancreatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002013	"Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." []	3182143	\N	\N	EFO	5	EFO	material property	alcoholic pancreatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002013	"Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." []	4390276	\N	\N	EFO	6	EFO	experimental factor	alcoholic pancreatitis
EFO:1002014	\N	\N	"a subtype of depression characterised by the inability to find pleasure in positive things combined with agitation, insomnia, or decreased appetite" []	EFO:1002014	"a subtype of depression characterised by the inability to find pleasure in positive things combined with agitation, insomnia, or decreased appetite" []	71355	\N	\N	EFO	0	EFO	melancholia	melancholia
EFO:0004247	EFO:1002014	\N	"Those disorders that have a disturbance in mood as their predominant feature." []	EFO:1002014	"a subtype of depression characterised by the inability to find pleasure in positive things combined with agitation, insomnia, or decreased appetite" []	213938	\N	\N	EFO	1	EFO	mood disorder	melancholia
EFO:0000677	EFO:0004247	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	EFO:1002014	"a subtype of depression characterised by the inability to find pleasure in positive things combined with agitation, insomnia, or decreased appetite" []	567862	\N	\N	EFO	2	EFO	mental or behavioural disorder	melancholia
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	EFO:1002014	"a subtype of depression characterised by the inability to find pleasure in positive things combined with agitation, insomnia, or decreased appetite" []	1149351	\N	\N	EFO	3	EFO	brain disease	melancholia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	EFO:1002014	"a subtype of depression characterised by the inability to find pleasure in positive things combined with agitation, insomnia, or decreased appetite" []	2031576	\N	\N	EFO	4	EFO	nervous system disease	melancholia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002014	"a subtype of depression characterised by the inability to find pleasure in positive things combined with agitation, insomnia, or decreased appetite" []	3182144	\N	\N	EFO	5	EFO	disease	melancholia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002014	"a subtype of depression characterised by the inability to find pleasure in positive things combined with agitation, insomnia, or decreased appetite" []	4390277	\N	\N	EFO	6	EFO	disposition	melancholia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002014	"a subtype of depression characterised by the inability to find pleasure in positive things combined with agitation, insomnia, or decreased appetite" []	5409668	\N	\N	EFO	7	EFO	material property	melancholia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002014	"a subtype of depression characterised by the inability to find pleasure in positive things combined with agitation, insomnia, or decreased appetite" []	6147731	\N	\N	EFO	8	EFO	experimental factor	melancholia
EFO:1002015	\N	\N	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	71356	\N	\N	EFO	0	EFO	HPV-associated cervical carcinoma	HPV-associated cervical carcinoma
EFO:0001061	EFO:1002015	\N	"Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	213939	\N	\N	EFO	1	EFO	cervical carcinoma	HPV-associated cervical carcinoma
EFO:0000313	EFO:0001061	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	567863	\N	\N	EFO	2	EFO	carcinoma	HPV-associated cervical carcinoma
EFO:0000512	EFO:0001061	\N	"any diease of the reproductive system" []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	567864	\N	\N	EFO	2	EFO	reproductive system disease	HPV-associated cervical carcinoma
EFO:0003863	EFO:0001061	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	567865	\N	\N	EFO	2	EFO	urogenital neoplasm	HPV-associated cervical carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	1149352	\N	\N	EFO	3	EFO	cancer	HPV-associated cervical carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	1149353	\N	\N	EFO	3	EFO	epithelial neoplasm	HPV-associated cervical carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	1149354	\N	\N	EFO	3	EFO	disease	HPV-associated cervical carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	1149355	\N	\N	EFO	3	EFO	neoplasm	HPV-associated cervical carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	2031577	\N	\N	EFO	4	EFO	neoplasm	HPV-associated cervical carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	2031578	\N	\N	EFO	4	EFO	neoplasm	HPV-associated cervical carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	4133178	\N	\N	EFO	6	EFO	disposition	HPV-associated cervical carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	3182145	\N	\N	EFO	5	EFO	disease	HPV-associated cervical carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	5059532	\N	\N	EFO	7	EFO	material property	HPV-associated cervical carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002015	"a carcinoma that arises from the cervix and is caused by human papillomavirus infection" []	5876677	\N	\N	EFO	8	EFO	experimental factor	HPV-associated cervical carcinoma
EFO:1002016	\N	\N	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	71357	\N	\N	EFO	0	EFO	poorly differentiated follicular thyroid carcinoma	poorly differentiated follicular thyroid carcinoma
EFO:1000489	EFO:1002016	\N	"An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	213940	\N	\N	EFO	1	EFO	Poorly Differentiated Thyroid Gland Carcinoma	poorly differentiated follicular thyroid carcinoma
EFO:0000228	EFO:1000489	\N	"A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	567866	\N	\N	EFO	2	EFO	adenocarcinoma	poorly differentiated follicular thyroid carcinoma
EFO:0002892	EFO:1000489	\N	"A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.\\n\\nCancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	567867	\N	\N	EFO	2	EFO	thyroid carcinoma	poorly differentiated follicular thyroid carcinoma
EFO:0000313	EFO:0000228	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	1149356	\N	\N	EFO	3	EFO	carcinoma	poorly differentiated follicular thyroid carcinoma
EFO:0000313	EFO:0002892	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	1149357	\N	\N	EFO	3	EFO	carcinoma	poorly differentiated follicular thyroid carcinoma
EFO:0003841	EFO:0002892	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	1149358	\N	\N	EFO	3	EFO	thyroid neoplasm	poorly differentiated follicular thyroid carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	2031581	\N	\N	EFO	4	EFO	cancer	poorly differentiated follicular thyroid carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	2031582	\N	\N	EFO	4	EFO	epithelial neoplasm	poorly differentiated follicular thyroid carcinoma
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	2031583	\N	\N	EFO	4	EFO	endocrine neoplasm	poorly differentiated follicular thyroid carcinoma
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	2031584	\N	\N	EFO	4	EFO	thyroid disease	poorly differentiated follicular thyroid carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	3182148	\N	\N	EFO	5	EFO	neoplasm	poorly differentiated follicular thyroid carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	3182149	\N	\N	EFO	5	EFO	neoplasm	poorly differentiated follicular thyroid carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	3182150	\N	\N	EFO	5	EFO	neoplasm	poorly differentiated follicular thyroid carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	3182151	\N	\N	EFO	5	EFO	endocrine system disease	poorly differentiated follicular thyroid carcinoma
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	3182152	\N	\N	EFO	5	EFO	endocrine system disease	poorly differentiated follicular thyroid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	4390279	\N	\N	EFO	6	EFO	disease	poorly differentiated follicular thyroid carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	4390280	\N	\N	EFO	6	EFO	disease	poorly differentiated follicular thyroid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	5409669	\N	\N	EFO	7	EFO	disposition	poorly differentiated follicular thyroid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	6147732	\N	\N	EFO	8	EFO	material property	poorly differentiated follicular thyroid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002016	"carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma" []	6631905	\N	\N	EFO	9	EFO	experimental factor	poorly differentiated follicular thyroid carcinoma
EFO:1002017	\N	\N	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	EFO:1002017	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	71358	\N	\N	EFO	0	EFO	differentiated thyroid carcinoma	differentiated thyroid carcinoma
EFO:0000313	EFO:1002017	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	EFO:1002017	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	213941	\N	\N	EFO	1	EFO	carcinoma	differentiated thyroid carcinoma
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	EFO:1002017	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	567868	\N	\N	EFO	2	EFO	cancer	differentiated thyroid carcinoma
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	EFO:1002017	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	567869	\N	\N	EFO	2	EFO	epithelial neoplasm	differentiated thyroid carcinoma
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1002017	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	1149359	\N	\N	EFO	3	EFO	neoplasm	differentiated thyroid carcinoma
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	EFO:1002017	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	1149360	\N	\N	EFO	3	EFO	neoplasm	differentiated thyroid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002017	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	2031585	\N	\N	EFO	4	EFO	disease	differentiated thyroid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002017	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	3182153	\N	\N	EFO	5	EFO	disposition	differentiated thyroid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002017	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	4390281	\N	\N	EFO	6	EFO	material property	differentiated thyroid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002017	"Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation" []	5409670	\N	\N	EFO	7	EFO	experimental factor	differentiated thyroid carcinoma
EFO:1002018	\N	\N	"a respiratory system disease that has its manifestation in the bronchus" []	EFO:1002018	"a respiratory system disease that has its manifestation in the bronchus" []	71359	\N	\N	EFO	0	EFO	bronchial disease	bronchial disease
EFO:0000684	EFO:1002018	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	EFO:1002018	"a respiratory system disease that has its manifestation in the bronchus" []	213942	\N	\N	EFO	1	EFO	respiratory system disease	bronchial disease
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	EFO:1002018	"a respiratory system disease that has its manifestation in the bronchus" []	567870	\N	\N	EFO	2	EFO	disease	bronchial disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	EFO:1002018	"a respiratory system disease that has its manifestation in the bronchus" []	1149361	\N	\N	EFO	3	EFO	disposition	bronchial disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	EFO:1002018	"a respiratory system disease that has its manifestation in the bronchus" []	2031586	\N	\N	EFO	4	EFO	material property	bronchial disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EFO:1002018	"a respiratory system disease that has its manifestation in the bronchus" []	3182154	\N	\N	EFO	5	EFO	experimental factor	bronchial disease
EO:0001001	\N	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0001001	"A plant environment involving the application of an abiotic or biotic treatment." []	71360	\N	\N	EFO	0	EFO	plant treatment	plant treatment
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0001001	"A plant environment involving the application of an abiotic or biotic treatment." []	213943	\N	\N	EFO	1	EFO	treatment	plant treatment
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0001001	"A plant environment involving the application of an abiotic or biotic treatment." []	567871	\N	\N	EFO	2	EFO	experimental process	plant treatment
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0001001	"A plant environment involving the application of an abiotic or biotic treatment." []	1149362	\N	\N	EFO	3	EFO	planned process	plant treatment
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0001001	"A plant environment involving the application of an abiotic or biotic treatment." []	2031587	\N	\N	EFO	4	EFO	process	plant treatment
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0001001	"A plant environment involving the application of an abiotic or biotic treatment." []	3182155	\N	\N	EFO	5	EFO	experimental factor	plant treatment
EO:0001004	\N	\N	"A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." []	EO:0001004	"A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." []	71361	\N	\N	EFO	0	EFO	inorganic chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inorganic chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007189	EO:0001004	\N	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	EO:0001004	"A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." []	213944	\N	\N	EFO	1	EFO	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inorganic chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007189	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0001004	"A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." []	567872	\N	\N	EFO	2	EFO	abiotic plant treatment	inorganic chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0001004	"A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." []	1149363	\N	\N	EFO	3	EFO	plant treatment	inorganic chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0001004	"A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." []	2031588	\N	\N	EFO	4	EFO	treatment	inorganic chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0001004	"A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." []	3182156	\N	\N	EFO	5	EFO	experimental process	inorganic chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0001004	"A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." []	4390282	\N	\N	EFO	6	EFO	planned process	inorganic chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0001004	"A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." []	5409671	\N	\N	EFO	7	EFO	process	inorganic chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0001004	"A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." []	6147733	\N	\N	EFO	8	EFO	experimental factor	inorganic chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001020	\N	\N	"An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." []	EO:0001020	"An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." []	71362	\N	\N	EFO	0	EFO	carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001055	EO:0001020	\N	"An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." []	EO:0001020	"An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." []	213945	\N	\N	EFO	1	EFO	inorganic gas treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007189	EO:0001055	\N	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	EO:0001020	"An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." []	567873	\N	\N	EFO	2	EFO	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007189	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0001020	"An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." []	1149364	\N	\N	EFO	3	EFO	abiotic plant treatment	carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0001020	"An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." []	2031589	\N	\N	EFO	4	EFO	plant treatment	carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0001020	"An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." []	3182157	\N	\N	EFO	5	EFO	treatment	carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0001020	"An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." []	4390283	\N	\N	EFO	6	EFO	experimental process	carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0001020	"An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." []	5409672	\N	\N	EFO	7	EFO	planned process	carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0001020	"An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." []	6147734	\N	\N	EFO	8	EFO	process	carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0001020	"An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." []	6631906	\N	\N	EFO	9	EFO	experimental factor	carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001038	\N	\N	"" []	EO:0001038	"" []	71363	\N	\N	EFO	0	EFO	osmotic stress treatment	osmotic stress treatment
EO:0007191	EO:0001038	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0001038	"" []	213946	\N	\N	EFO	1	EFO	abiotic plant treatment	osmotic stress treatment
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0001038	"" []	567874	\N	\N	EFO	2	EFO	plant treatment	osmotic stress treatment
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0001038	"" []	1149365	\N	\N	EFO	3	EFO	treatment	osmotic stress treatment
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0001038	"" []	2031590	\N	\N	EFO	4	EFO	experimental process	osmotic stress treatment
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0001038	"" []	3182158	\N	\N	EFO	5	EFO	planned process	osmotic stress treatment
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0001038	"" []	4390284	\N	\N	EFO	6	EFO	process	osmotic stress treatment
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0001038	"" []	5409673	\N	\N	EFO	7	EFO	experimental factor	osmotic stress treatment
EO:0001047	\N	\N	"An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." []	EO:0001047	"An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." []	71365	\N	\N	EFO	0	EFO	limited iron regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	limited iron regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007241	EO:0001047	\N	"A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." []	EO:0001047	"An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." []	213947	\N	\N	EFO	1	EFO	plant nutrient treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	limited iron regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007189	EO:0007241	\N	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	EO:0001047	"An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." []	567875	\N	\N	EFO	2	EFO	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	limited iron regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007189	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0001047	"An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." []	1149366	\N	\N	EFO	3	EFO	abiotic plant treatment	limited iron regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0001047	"An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." []	2031591	\N	\N	EFO	4	EFO	plant treatment	limited iron regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0001047	"An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." []	3182159	\N	\N	EFO	5	EFO	treatment	limited iron regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0001047	"An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." []	4390285	\N	\N	EFO	6	EFO	experimental process	limited iron regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0001047	"An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." []	5409674	\N	\N	EFO	7	EFO	planned process	limited iron regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0001047	"An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." []	6147735	\N	\N	EFO	8	EFO	process	limited iron regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0001047	"An iron nutrient regimen (EO:0007242) involving exposure to limiting amounts or the absence of iron (CHEBI:18248)." []	6631907	\N	\N	EFO	9	EFO	experimental factor	limited iron regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001054	\N	\N	"A nitrate regimen (EO:0007406) involving exposure to limiting amounts or the absence of nitrate (CHEBI:17632)." []	EO:0001054	"A nitrate regimen (EO:0007406) involving exposure to limiting amounts or the absence of nitrate (CHEBI:17632)." []	71366	\N	\N	EFO	0	EFO	limited nitrate regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	limited nitrate regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007241	EO:0001054	\N	"A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." []	EO:0001054	"A nitrate regimen (EO:0007406) involving exposure to limiting amounts or the absence of nitrate (CHEBI:17632)." []	213948	\N	\N	EFO	1	EFO	plant nutrient treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	limited nitrate regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007189	EO:0007241	\N	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	EO:0001054	"A nitrate regimen (EO:0007406) involving exposure to limiting amounts or the absence of nitrate (CHEBI:17632)." []	567876	\N	\N	EFO	2	EFO	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	limited nitrate regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007189	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0001054	"A nitrate regimen (EO:0007406) involving exposure to limiting amounts or the absence of nitrate (CHEBI:17632)." []	1149367	\N	\N	EFO	3	EFO	abiotic plant treatment	limited nitrate regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0001054	"A nitrate regimen (EO:0007406) involving exposure to limiting amounts or the absence of nitrate (CHEBI:17632)." []	2031592	\N	\N	EFO	4	EFO	plant treatment	limited nitrate regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0001054	"A nitrate regimen (EO:0007406) involving exposure to limiting amounts or the absence of nitrate (CHEBI:17632)." []	3182160	\N	\N	EFO	5	EFO	treatment	limited nitrate regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0001054	"A nitrate regimen (EO:0007406) involving exposure to limiting amounts or the absence of nitrate (CHEBI:17632)." []	4390286	\N	\N	EFO	6	EFO	experimental process	limited nitrate regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0001054	"A nitrate regimen (EO:0007406) involving exposure to limiting amounts or the absence of nitrate (CHEBI:17632)." []	5409675	\N	\N	EFO	7	EFO	planned process	limited nitrate regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0001054	"A nitrate regimen (EO:0007406) involving exposure to limiting amounts or the absence of nitrate (CHEBI:17632)." []	6147736	\N	\N	EFO	8	EFO	process	limited nitrate regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0001054	"A nitrate regimen (EO:0007406) involving exposure to limiting amounts or the absence of nitrate (CHEBI:17632)." []	6631908	\N	\N	EFO	9	EFO	experimental factor	limited nitrate regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001055	\N	\N	"An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." []	EO:0001055	"An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." []	71367	\N	\N	EFO	0	EFO	inorganic gas treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inorganic gas treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007189	EO:0001055	\N	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	EO:0001055	"An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." []	213949	\N	\N	EFO	1	EFO	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inorganic gas treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007189	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0001055	"An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." []	567877	\N	\N	EFO	2	EFO	abiotic plant treatment	inorganic gas treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0001055	"An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." []	1149368	\N	\N	EFO	3	EFO	plant treatment	inorganic gas treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0001055	"An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." []	2031593	\N	\N	EFO	4	EFO	treatment	inorganic gas treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0001055	"An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." []	3182161	\N	\N	EFO	5	EFO	experimental process	inorganic gas treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0001055	"An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." []	4390287	\N	\N	EFO	6	EFO	planned process	inorganic gas treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0001055	"An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." []	5409676	\N	\N	EFO	7	EFO	process	inorganic gas treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0001055	"An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." []	6147737	\N	\N	EFO	8	EFO	experimental factor	inorganic gas treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001056	\N	\N	"A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." []	EO:0001056	"A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." []	71368	\N	\N	EFO	0	EFO	elevated carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	elevated carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001020	EO:0001056	\N	"An inorganic gas treatment (EO:0001055) that involves the application of carbon dioxide (CHEBI:16526)." []	EO:0001056	"A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." []	213950	\N	\N	EFO	1	EFO	carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	elevated carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001055	EO:0001020	\N	"An inorganic chemical treatment (EO:0001004) involving the application of a gas or mixture of gases." []	EO:0001056	"A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." []	567878	\N	\N	EFO	2	EFO	inorganic gas treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	elevated carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007189	EO:0001055	\N	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	EO:0001056	"A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." []	1149369	\N	\N	EFO	3	EFO	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	elevated carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007189	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0001056	"A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." []	2031594	\N	\N	EFO	4	EFO	abiotic plant treatment	elevated carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0001056	"A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." []	3182162	\N	\N	EFO	5	EFO	plant treatment	elevated carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0001056	"A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." []	4390288	\N	\N	EFO	6	EFO	treatment	elevated carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0001056	"A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." []	5409677	\N	\N	EFO	7	EFO	experimental process	elevated carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0001056	"A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." []	6147738	\N	\N	EFO	8	EFO	planned process	elevated carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0001056	"A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." []	6631909	\N	\N	EFO	9	EFO	process	elevated carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0001056	"A carbon dioxide treatment (EO:0001020) involving an increased concentration of carbon dioxide (CHEBI:16526)." []	6925329	\N	\N	EFO	10	EFO	experimental factor	elevated carbon dioxide treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007048	\N	\N	"Treatment involving the use of sodium chloride salt as supplement to liquid and soil growth media to study various types of responses on its application." []	EO:0007048	"Treatment involving the use of sodium chloride salt as supplement to liquid and soil growth media to study various types of responses on its application." []	71369	\N	\N	EFO	0	EFO	sodium chloride regimen	sodium chloride regimen
EO:0001001	EO:0007048	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007048	"Treatment involving the use of sodium chloride salt as supplement to liquid and soil growth media to study various types of responses on its application." []	213951	\N	\N	EFO	1	EFO	plant treatment	sodium chloride regimen
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007048	"Treatment involving the use of sodium chloride salt as supplement to liquid and soil growth media to study various types of responses on its application." []	567879	\N	\N	EFO	2	EFO	treatment	sodium chloride regimen
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007048	"Treatment involving the use of sodium chloride salt as supplement to liquid and soil growth media to study various types of responses on its application." []	1149370	\N	\N	EFO	3	EFO	experimental process	sodium chloride regimen
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007048	"Treatment involving the use of sodium chloride salt as supplement to liquid and soil growth media to study various types of responses on its application." []	2031595	\N	\N	EFO	4	EFO	planned process	sodium chloride regimen
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007048	"Treatment involving the use of sodium chloride salt as supplement to liquid and soil growth media to study various types of responses on its application." []	3182163	\N	\N	EFO	5	EFO	process	sodium chloride regimen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007048	"Treatment involving the use of sodium chloride salt as supplement to liquid and soil growth media to study various types of responses on its application." []	4390289	\N	\N	EFO	6	EFO	experimental factor	sodium chloride regimen
EO:0007049	\N	\N	"The treatment involving growing plants and exposing them to soil growth media with varying contents." []	EO:0007049	"The treatment involving growing plants and exposing them to soil growth media with varying contents." []	71370	\N	\N	EFO	0	EFO	soil environment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	soil environment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007049	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007049	"The treatment involving growing plants and exposing them to soil growth media with varying contents." []	213952	\N	\N	EFO	1	EFO	abiotic plant treatment	soil environment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007049	"The treatment involving growing plants and exposing them to soil growth media with varying contents." []	567880	\N	\N	EFO	2	EFO	plant treatment	soil environment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007049	"The treatment involving growing plants and exposing them to soil growth media with varying contents." []	1149371	\N	\N	EFO	3	EFO	treatment	soil environment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007049	"The treatment involving growing plants and exposing them to soil growth media with varying contents." []	2031596	\N	\N	EFO	4	EFO	experimental process	soil environment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007049	"The treatment involving growing plants and exposing them to soil growth media with varying contents." []	3182164	\N	\N	EFO	5	EFO	planned process	soil environment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007049	"The treatment involving growing plants and exposing them to soil growth media with varying contents." []	4390290	\N	\N	EFO	6	EFO	process	soil environment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007049	"The treatment involving growing plants and exposing them to soil growth media with varying contents." []	5409678	\N	\N	EFO	7	EFO	experimental factor	soil environment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007067	\N	\N	"The treatment suggesting the use of liquid growth media for growing the plants." []	EO:0007067	"The treatment suggesting the use of liquid growth media for growing the plants." []	71371	\N	\N	EFO	0	EFO	hydroponic plant culture media	hydroponic plant culture media
EO:0007191	EO:0007067	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007067	"The treatment suggesting the use of liquid growth media for growing the plants." []	213953	\N	\N	EFO	1	EFO	abiotic plant treatment	hydroponic plant culture media
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007067	"The treatment suggesting the use of liquid growth media for growing the plants." []	567881	\N	\N	EFO	2	EFO	plant treatment	hydroponic plant culture media
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007067	"The treatment suggesting the use of liquid growth media for growing the plants." []	1149372	\N	\N	EFO	3	EFO	treatment	hydroponic plant culture media
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007067	"The treatment suggesting the use of liquid growth media for growing the plants." []	2031597	\N	\N	EFO	4	EFO	experimental process	hydroponic plant culture media
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007067	"The treatment suggesting the use of liquid growth media for growing the plants." []	3182165	\N	\N	EFO	5	EFO	planned process	hydroponic plant culture media
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007067	"The treatment suggesting the use of liquid growth media for growing the plants." []	4390291	\N	\N	EFO	6	EFO	process	hydroponic plant culture media
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007067	"The treatment suggesting the use of liquid growth media for growing the plants." []	5409679	\N	\N	EFO	7	EFO	experimental factor	hydroponic plant culture media
EO:0007068	\N	\N	"A growth hormone treatment (EO:0007165) involving the use of ethylene (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	EO:0007068	"A growth hormone treatment (EO:0007165) involving the use of ethylene (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	71372	\N	\N	EFO	0	EFO	ethylene treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ethylene treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007165	EO:0007068	\N	"A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." []	EO:0007068	"A growth hormone treatment (EO:0007165) involving the use of ethylene (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	213954	\N	\N	EFO	1	EFO	growth hormone treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ethylene treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007189	EO:0007165	\N	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	EO:0007068	"A growth hormone treatment (EO:0007165) involving the use of ethylene (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	567882	\N	\N	EFO	2	EFO	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ethylene treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007189	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007068	"A growth hormone treatment (EO:0007165) involving the use of ethylene (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	1149373	\N	\N	EFO	3	EFO	abiotic plant treatment	ethylene treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007068	"A growth hormone treatment (EO:0007165) involving the use of ethylene (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	2031598	\N	\N	EFO	4	EFO	plant treatment	ethylene treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007068	"A growth hormone treatment (EO:0007165) involving the use of ethylene (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	3182166	\N	\N	EFO	5	EFO	treatment	ethylene treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007068	"A growth hormone treatment (EO:0007165) involving the use of ethylene (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	4390292	\N	\N	EFO	6	EFO	experimental process	ethylene treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007068	"A growth hormone treatment (EO:0007165) involving the use of ethylene (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	5409680	\N	\N	EFO	7	EFO	planned process	ethylene treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007068	"A growth hormone treatment (EO:0007165) involving the use of ethylene (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	6147739	\N	\N	EFO	8	EFO	process	ethylene treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007068	"A growth hormone treatment (EO:0007165) involving the use of ethylene (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	6631910	\N	\N	EFO	9	EFO	experimental factor	ethylene treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007078	\N	\N	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	EO:0007078	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	71373	\N	\N	EFO	0	EFO	light quantity regimen	light quantity regimen
EO:0007153	EO:0007078	\N	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	EO:0007078	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	213955	\N	\N	EFO	1	EFO	radiation quantity regimen	light quantity regimen
EO:0001001	EO:0007153	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007078	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	567883	\N	\N	EFO	2	EFO	plant treatment	light quantity regimen
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007078	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	1149374	\N	\N	EFO	3	EFO	treatment	light quantity regimen
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007078	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	2031599	\N	\N	EFO	4	EFO	experimental process	light quantity regimen
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007078	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	3182167	\N	\N	EFO	5	EFO	planned process	light quantity regimen
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007078	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	4390293	\N	\N	EFO	6	EFO	process	light quantity regimen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007078	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	5409681	\N	\N	EFO	7	EFO	experimental factor	light quantity regimen
EO:0007105	\N	\N	"A growth hormone treatment (EO:0007165) involving the use of abscisic acid (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	EO:0007105	"A growth hormone treatment (EO:0007165) involving the use of abscisic acid (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	71374	\N	\N	EFO	0	EFO	abscisic acid treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	abscisic acid treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007165	EO:0007105	\N	"A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." []	EO:0007105	"A growth hormone treatment (EO:0007165) involving the use of abscisic acid (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	213956	\N	\N	EFO	1	EFO	growth hormone treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	abscisic acid treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007189	EO:0007165	\N	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	EO:0007105	"A growth hormone treatment (EO:0007165) involving the use of abscisic acid (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	567884	\N	\N	EFO	2	EFO	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	abscisic acid treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007189	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007105	"A growth hormone treatment (EO:0007165) involving the use of abscisic acid (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	1149375	\N	\N	EFO	3	EFO	abiotic plant treatment	abscisic acid treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007105	"A growth hormone treatment (EO:0007165) involving the use of abscisic acid (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	2031600	\N	\N	EFO	4	EFO	plant treatment	abscisic acid treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007105	"A growth hormone treatment (EO:0007165) involving the use of abscisic acid (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	3182168	\N	\N	EFO	5	EFO	treatment	abscisic acid treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007105	"A growth hormone treatment (EO:0007165) involving the use of abscisic acid (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	4390294	\N	\N	EFO	6	EFO	experimental process	abscisic acid treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007105	"A growth hormone treatment (EO:0007165) involving the use of abscisic acid (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	5409682	\N	\N	EFO	7	EFO	planned process	abscisic acid treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007105	"A growth hormone treatment (EO:0007165) involving the use of abscisic acid (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	6147740	\N	\N	EFO	8	EFO	process	abscisic acid treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007105	"A growth hormone treatment (EO:0007165) involving the use of abscisic acid (or its homolog) growth hormone to study various types of responses on its extrinsic and/or intrinsic application." []	6631911	\N	\N	EFO	9	EFO	experimental factor	abscisic acid treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007129	\N	\N	"The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm" []	EO:0007129	"The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm" []	71375	\N	\N	EFO	0	EFO	UV-C light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	UV-C light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007222	EO:0007129	\N	"The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." []	EO:0007129	"The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm" []	213957	\N	\N	EFO	1	EFO	UV light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	UV-C light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007196	EO:0007222	\N	"The treatment involving day light as the light of the sun or the artificial light in a growth chamber." []	EO:0007129	"The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm" []	567885	\N	\N	EFO	2	EFO	light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	UV-C light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007154	EO:0007196	\N	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	EO:0007129	"The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm" []	1149376	\N	\N	EFO	3	EFO	radiation quality treatment	UV-C light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007154	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007129	"The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm" []	2031601	\N	\N	EFO	4	EFO	plant treatment	UV-C light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007129	"The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm" []	3182169	\N	\N	EFO	5	EFO	treatment	UV-C light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007129	"The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm" []	4390295	\N	\N	EFO	6	EFO	experimental process	UV-C light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007129	"The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm" []	5409683	\N	\N	EFO	7	EFO	planned process	UV-C light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007129	"The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm" []	6147741	\N	\N	EFO	8	EFO	process	UV-C light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007129	"The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm" []	6631912	\N	\N	EFO	9	EFO	experimental factor	UV-C light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007153	\N	\N	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	EO:0007153	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	71376	\N	\N	EFO	0	EFO	radiation quantity regimen	radiation quantity regimen
EO:0001001	EO:0007153	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007153	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	213958	\N	\N	EFO	1	EFO	plant treatment	radiation quantity regimen
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007153	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	567886	\N	\N	EFO	2	EFO	treatment	radiation quantity regimen
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007153	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	1149377	\N	\N	EFO	3	EFO	experimental process	radiation quantity regimen
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007153	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	2031602	\N	\N	EFO	4	EFO	planned process	radiation quantity regimen
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007153	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	3182170	\N	\N	EFO	5	EFO	process	radiation quantity regimen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007153	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	4390296	\N	\N	EFO	6	EFO	experimental factor	radiation quantity regimen
EO:0007154	\N	\N	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	EO:0007154	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	71377	\N	\N	EFO	0	EFO	radiation quality treatment	radiation quality treatment
EO:0001001	EO:0007154	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007154	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	213959	\N	\N	EFO	1	EFO	plant treatment	radiation quality treatment
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007154	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	567887	\N	\N	EFO	2	EFO	treatment	radiation quality treatment
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007154	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	1149378	\N	\N	EFO	3	EFO	experimental process	radiation quality treatment
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007154	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	2031603	\N	\N	EFO	4	EFO	planned process	radiation quality treatment
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007154	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	3182171	\N	\N	EFO	5	EFO	process	radiation quality treatment
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007154	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	4390297	\N	\N	EFO	6	EFO	experimental factor	radiation quality treatment
EO:0007162	\N	\N	"The treatment involving continuous exposure of light to the plant." []	EO:0007162	"The treatment involving continuous exposure of light to the plant." []	71378	\N	\N	EFO	0	EFO	continuous light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	continuous light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007078	EO:0007162	\N	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	EO:0007162	"The treatment involving continuous exposure of light to the plant." []	213960	\N	\N	EFO	1	EFO	light quantity regimen	continuous light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007153	EO:0007078	\N	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	EO:0007162	"The treatment involving continuous exposure of light to the plant." []	567888	\N	\N	EFO	2	EFO	radiation quantity regimen	continuous light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007153	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007162	"The treatment involving continuous exposure of light to the plant." []	1149379	\N	\N	EFO	3	EFO	plant treatment	continuous light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007162	"The treatment involving continuous exposure of light to the plant." []	2031604	\N	\N	EFO	4	EFO	treatment	continuous light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007162	"The treatment involving continuous exposure of light to the plant." []	3182172	\N	\N	EFO	5	EFO	experimental process	continuous light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007162	"The treatment involving continuous exposure of light to the plant." []	4390298	\N	\N	EFO	6	EFO	planned process	continuous light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007162	"The treatment involving continuous exposure of light to the plant." []	5409684	\N	\N	EFO	7	EFO	process	continuous light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007162	"The treatment involving continuous exposure of light to the plant." []	6147742	\N	\N	EFO	8	EFO	experimental factor	continuous light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007165	\N	\N	"A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." []	EO:0007165	"A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." []	71379	\N	\N	EFO	0	EFO	growth hormone treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	growth hormone treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007189	EO:0007165	\N	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	EO:0007165	"A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." []	213961	\N	\N	EFO	1	EFO	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	growth hormone treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007189	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007165	"A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." []	567889	\N	\N	EFO	2	EFO	abiotic plant treatment	growth hormone treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007165	"A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." []	1149380	\N	\N	EFO	3	EFO	plant treatment	growth hormone treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007165	"A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." []	2031605	\N	\N	EFO	4	EFO	treatment	growth hormone treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007165	"A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." []	3182173	\N	\N	EFO	5	EFO	experimental process	growth hormone treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007165	"A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." []	4390299	\N	\N	EFO	6	EFO	planned process	growth hormone treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007165	"A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." []	5409685	\N	\N	EFO	7	EFO	process	growth hormone treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007165	"A chemical treatment (EO:0007189) involving the use of growth hormones to study various types of responses on their extrinsic and/or intrinsic application." []	6147743	\N	\N	EFO	8	EFO	experimental factor	growth hormone treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007171	\N	\N	"The treatment involving exposure of plants to varying levels of pH of the growth media." []	EO:0007171	"The treatment involving exposure of plants to varying levels of pH of the growth media." []	71380	\N	\N	EFO	0	EFO	pH regimen	pH regimen
EO:0007191	EO:0007171	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007171	"The treatment involving exposure of plants to varying levels of pH of the growth media." []	213962	\N	\N	EFO	1	EFO	abiotic plant treatment	pH regimen
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007171	"The treatment involving exposure of plants to varying levels of pH of the growth media." []	567890	\N	\N	EFO	2	EFO	plant treatment	pH regimen
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007171	"The treatment involving exposure of plants to varying levels of pH of the growth media." []	1149381	\N	\N	EFO	3	EFO	treatment	pH regimen
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007171	"The treatment involving exposure of plants to varying levels of pH of the growth media." []	2031606	\N	\N	EFO	4	EFO	experimental process	pH regimen
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007171	"The treatment involving exposure of plants to varying levels of pH of the growth media." []	3182174	\N	\N	EFO	5	EFO	planned process	pH regimen
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007171	"The treatment involving exposure of plants to varying levels of pH of the growth media." []	4390300	\N	\N	EFO	6	EFO	process	pH regimen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007171	"The treatment involving exposure of plants to varying levels of pH of the growth media." []	5409686	\N	\N	EFO	7	EFO	experimental factor	pH regimen
EO:0007173	\N	\N	"The treatment involving an exposure to above optimal temperature, which may depend on the study type or the regional environment." []	EO:0007173	"The treatment involving an exposure to above optimal temperature, which may depend on the study type or the regional environment." []	71381	\N	\N	EFO	0	EFO	warm/hot temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	warm/hot temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007173	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007173	"The treatment involving an exposure to above optimal temperature, which may depend on the study type or the regional environment." []	213963	\N	\N	EFO	1	EFO	abiotic plant treatment	warm/hot temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007173	"The treatment involving an exposure to above optimal temperature, which may depend on the study type or the regional environment." []	567891	\N	\N	EFO	2	EFO	plant treatment	warm/hot temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007173	"The treatment involving an exposure to above optimal temperature, which may depend on the study type or the regional environment." []	1149382	\N	\N	EFO	3	EFO	treatment	warm/hot temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007173	"The treatment involving an exposure to above optimal temperature, which may depend on the study type or the regional environment." []	2031607	\N	\N	EFO	4	EFO	experimental process	warm/hot temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007173	"The treatment involving an exposure to above optimal temperature, which may depend on the study type or the regional environment." []	3182175	\N	\N	EFO	5	EFO	planned process	warm/hot temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007173	"The treatment involving an exposure to above optimal temperature, which may depend on the study type or the regional environment." []	4390301	\N	\N	EFO	6	EFO	process	warm/hot temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007173	"The treatment involving an exposure to above optimal temperature, which may depend on the study type or the regional environment." []	5409687	\N	\N	EFO	7	EFO	experimental factor	warm/hot temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007185	\N	\N	"A chemical treatment (EO:0007189) involving use of salts as supplement to liquid and soil growth media to study various types of responses on their application." []	EO:0007185	"A chemical treatment (EO:0007189) involving use of salts as supplement to liquid and soil growth media to study various types of responses on their application." []	71383	\N	\N	EFO	0	EFO	salt treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	salt treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007189	EO:0007185	\N	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	EO:0007185	"A chemical treatment (EO:0007189) involving use of salts as supplement to liquid and soil growth media to study various types of responses on their application." []	213964	\N	\N	EFO	1	EFO	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	salt treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007189	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007185	"A chemical treatment (EO:0007189) involving use of salts as supplement to liquid and soil growth media to study various types of responses on their application." []	567892	\N	\N	EFO	2	EFO	abiotic plant treatment	salt treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007185	"A chemical treatment (EO:0007189) involving use of salts as supplement to liquid and soil growth media to study various types of responses on their application." []	1149383	\N	\N	EFO	3	EFO	plant treatment	salt treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007185	"A chemical treatment (EO:0007189) involving use of salts as supplement to liquid and soil growth media to study various types of responses on their application." []	2031608	\N	\N	EFO	4	EFO	treatment	salt treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007185	"A chemical treatment (EO:0007189) involving use of salts as supplement to liquid and soil growth media to study various types of responses on their application." []	3182176	\N	\N	EFO	5	EFO	experimental process	salt treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007185	"A chemical treatment (EO:0007189) involving use of salts as supplement to liquid and soil growth media to study various types of responses on their application." []	4390302	\N	\N	EFO	6	EFO	planned process	salt treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007185	"A chemical treatment (EO:0007189) involving use of salts as supplement to liquid and soil growth media to study various types of responses on their application." []	5409688	\N	\N	EFO	7	EFO	process	salt treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007185	"A chemical treatment (EO:0007189) involving use of salts as supplement to liquid and soil growth media to study various types of responses on their application." []	6147744	\N	\N	EFO	8	EFO	experimental factor	salt treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007189	\N	\N	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	EO:0007189	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	71384	\N	\N	EFO	0	EFO	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007189	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007189	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	213965	\N	\N	EFO	1	EFO	abiotic plant treatment	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007189	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	567893	\N	\N	EFO	2	EFO	plant treatment	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007189	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	1149384	\N	\N	EFO	3	EFO	treatment	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007189	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	2031609	\N	\N	EFO	4	EFO	experimental process	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007189	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	3182177	\N	\N	EFO	5	EFO	planned process	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007189	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	4390303	\N	\N	EFO	6	EFO	process	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007189	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	5409689	\N	\N	EFO	7	EFO	experimental factor	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	\N	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007191	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	71385	\N	\N	EFO	0	EFO	abiotic plant treatment	abiotic plant treatment
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007191	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	213966	\N	\N	EFO	1	EFO	plant treatment	abiotic plant treatment
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007191	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	567894	\N	\N	EFO	2	EFO	treatment	abiotic plant treatment
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007191	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	1149385	\N	\N	EFO	3	EFO	experimental process	abiotic plant treatment
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007191	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	2031610	\N	\N	EFO	4	EFO	planned process	abiotic plant treatment
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007191	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	3182178	\N	\N	EFO	5	EFO	process	abiotic plant treatment
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007191	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	4390304	\N	\N	EFO	6	EFO	experimental factor	abiotic plant treatment
EO:0007196	\N	\N	"The treatment involving day light as the light of the sun or the artificial light in a growth chamber." []	EO:0007196	"The treatment involving day light as the light of the sun or the artificial light in a growth chamber." []	71386	\N	\N	EFO	0	EFO	light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007154	EO:0007196	\N	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	EO:0007196	"The treatment involving day light as the light of the sun or the artificial light in a growth chamber." []	213967	\N	\N	EFO	1	EFO	radiation quality treatment	light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007154	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007196	"The treatment involving day light as the light of the sun or the artificial light in a growth chamber." []	567895	\N	\N	EFO	2	EFO	plant treatment	light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007196	"The treatment involving day light as the light of the sun or the artificial light in a growth chamber." []	1149386	\N	\N	EFO	3	EFO	treatment	light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007196	"The treatment involving day light as the light of the sun or the artificial light in a growth chamber." []	2031611	\N	\N	EFO	4	EFO	experimental process	light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007196	"The treatment involving day light as the light of the sun or the artificial light in a growth chamber." []	3182179	\N	\N	EFO	5	EFO	planned process	light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007196	"The treatment involving day light as the light of the sun or the artificial light in a growth chamber." []	4390305	\N	\N	EFO	6	EFO	process	light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007196	"The treatment involving day light as the light of the sun or the artificial light in a growth chamber." []	5409690	\N	\N	EFO	7	EFO	experimental factor	light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007199	\N	\N	"" []	EO:0007199	"" []	71387	\N	\N	EFO	0	EFO	long day length regimen	long day length regimen
EO:0007078	EO:0007199	\N	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	EO:0007199	"" []	213968	\N	\N	EFO	1	EFO	light quantity regimen	long day length regimen
EO:0007153	EO:0007078	\N	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	EO:0007199	"" []	567896	\N	\N	EFO	2	EFO	radiation quantity regimen	long day length regimen
EO:0001001	EO:0007153	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007199	"" []	1149387	\N	\N	EFO	3	EFO	plant treatment	long day length regimen
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007199	"" []	2031612	\N	\N	EFO	4	EFO	treatment	long day length regimen
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007199	"" []	3182180	\N	\N	EFO	5	EFO	experimental process	long day length regimen
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007199	"" []	4390306	\N	\N	EFO	6	EFO	planned process	long day length regimen
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007199	"" []	5409691	\N	\N	EFO	7	EFO	process	long day length regimen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007199	"" []	6147745	\N	\N	EFO	8	EFO	experimental factor	long day length regimen
EO:0007200	\N	\N	"The treatment involving exposure of plant to short day light duration followed by a long night cycle." []	EO:0007200	"The treatment involving exposure of plant to short day light duration followed by a long night cycle." []	71388	\N	\N	EFO	0	EFO	short day length regimen	short day length regimen
EO:0007078	EO:0007200	\N	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	EO:0007200	"The treatment involving exposure of plant to short day light duration followed by a long night cycle." []	213969	\N	\N	EFO	1	EFO	light quantity regimen	short day length regimen
EO:0007153	EO:0007078	\N	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	EO:0007200	"The treatment involving exposure of plant to short day light duration followed by a long night cycle." []	567897	\N	\N	EFO	2	EFO	radiation quantity regimen	short day length regimen
EO:0001001	EO:0007153	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007200	"The treatment involving exposure of plant to short day light duration followed by a long night cycle." []	1149388	\N	\N	EFO	3	EFO	plant treatment	short day length regimen
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007200	"The treatment involving exposure of plant to short day light duration followed by a long night cycle." []	2031613	\N	\N	EFO	4	EFO	treatment	short day length regimen
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007200	"The treatment involving exposure of plant to short day light duration followed by a long night cycle." []	3182181	\N	\N	EFO	5	EFO	experimental process	short day length regimen
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007200	"The treatment involving exposure of plant to short day light duration followed by a long night cycle." []	4390307	\N	\N	EFO	6	EFO	planned process	short day length regimen
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007200	"The treatment involving exposure of plant to short day light duration followed by a long night cycle." []	5409692	\N	\N	EFO	7	EFO	process	short day length regimen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007200	"The treatment involving exposure of plant to short day light duration followed by a long night cycle." []	6147746	\N	\N	EFO	8	EFO	experimental factor	short day length regimen
EO:0007203	\N	\N	"The treatment using far red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 800-700 nM." []	EO:0007203	"The treatment using far red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 800-700 nM." []	71389	\N	\N	EFO	0	EFO	far red light regimen	far red light regimen
EO:0007154	EO:0007203	\N	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	EO:0007203	"The treatment using far red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 800-700 nM." []	213970	\N	\N	EFO	1	EFO	radiation quality treatment	far red light regimen
EO:0001001	EO:0007154	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007203	"The treatment using far red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 800-700 nM." []	567898	\N	\N	EFO	2	EFO	plant treatment	far red light regimen
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007203	"The treatment using far red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 800-700 nM." []	1149389	\N	\N	EFO	3	EFO	treatment	far red light regimen
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007203	"The treatment using far red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 800-700 nM." []	2031614	\N	\N	EFO	4	EFO	experimental process	far red light regimen
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007203	"The treatment using far red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 800-700 nM." []	3182182	\N	\N	EFO	5	EFO	planned process	far red light regimen
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007203	"The treatment using far red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 800-700 nM." []	4390308	\N	\N	EFO	6	EFO	process	far red light regimen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007203	"The treatment using far red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 800-700 nM." []	5409693	\N	\N	EFO	7	EFO	experimental factor	far red light regimen
EO:0007207	\N	\N	"The treatment using red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 780-622 nM." []	EO:0007207	"The treatment using red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 780-622 nM." []	71390	\N	\N	EFO	0	EFO	red light regimen	red light regimen
EO:0007154	EO:0007207	\N	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	EO:0007207	"The treatment using red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 780-622 nM." []	213971	\N	\N	EFO	1	EFO	radiation quality treatment	red light regimen
EO:0001001	EO:0007154	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007207	"The treatment using red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 780-622 nM." []	567899	\N	\N	EFO	2	EFO	plant treatment	red light regimen
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007207	"The treatment using red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 780-622 nM." []	1149390	\N	\N	EFO	3	EFO	treatment	red light regimen
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007207	"The treatment using red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 780-622 nM." []	2031615	\N	\N	EFO	4	EFO	experimental process	red light regimen
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007207	"The treatment using red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 780-622 nM." []	3182183	\N	\N	EFO	5	EFO	planned process	red light regimen
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007207	"The treatment using red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 780-622 nM." []	4390309	\N	\N	EFO	6	EFO	process	red light regimen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007207	"The treatment using red light either exclusively or as part of a supplemental light treatment involving red color light in the wavelength range of 780-622 nM." []	5409694	\N	\N	EFO	7	EFO	experimental factor	red light regimen
EO:0007222	\N	\N	"The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." []	EO:0007222	"The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." []	71391	\N	\N	EFO	0	EFO	UV light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	UV light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007196	EO:0007222	\N	"The treatment involving day light as the light of the sun or the artificial light in a growth chamber." []	EO:0007222	"The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." []	213972	\N	\N	EFO	1	EFO	light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	UV light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007154	EO:0007196	\N	"The treatment involving an exposure to a given type of radiation. Often it is in the form of electromagnetic and ionizing radiation such as light (infrared, visible or ultraviolet), x-rays, gamma rays, etc.\\n\\n" []	EO:0007222	"The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." []	567900	\N	\N	EFO	2	EFO	radiation quality treatment	UV light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007154	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007222	"The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." []	1149391	\N	\N	EFO	3	EFO	plant treatment	UV light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007222	"The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." []	2031616	\N	\N	EFO	4	EFO	treatment	UV light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007222	"The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." []	3182184	\N	\N	EFO	5	EFO	experimental process	UV light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007222	"The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." []	4390310	\N	\N	EFO	6	EFO	planned process	UV light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007222	"The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." []	5409695	\N	\N	EFO	7	EFO	process	UV light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007222	"The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." []	6147747	\N	\N	EFO	8	EFO	experimental factor	UV light regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007241	\N	\N	"A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." []	EO:0007241	"A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." []	71393	\N	\N	EFO	0	EFO	plant nutrient treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant nutrient treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007189	EO:0007241	\N	"An abiotic plant treatment (EO:0007191) involving the application of chemical(s)." []	EO:0007241	"A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." []	213973	\N	\N	EFO	1	EFO	chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant nutrient treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007189	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007241	"A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." []	567901	\N	\N	EFO	2	EFO	abiotic plant treatment	plant nutrient treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007241	"A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." []	1149392	\N	\N	EFO	3	EFO	plant treatment	plant nutrient treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007241	"A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." []	2031617	\N	\N	EFO	4	EFO	treatment	plant nutrient treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007241	"A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." []	3182185	\N	\N	EFO	5	EFO	experimental process	plant nutrient treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007241	"A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." []	4390311	\N	\N	EFO	6	EFO	planned process	plant nutrient treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007241	"A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." []	5409696	\N	\N	EFO	7	EFO	process	plant nutrient treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007241	"A plant chemical treatment (EO:0007189) involving a plant nutrient or a combination of plant nutrients." []	6147748	\N	\N	EFO	8	EFO	experimental factor	plant nutrient treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007269	\N	\N	"The treatment involving study type in which plants were grown in growth chambers." []	EO:0007269	"The treatment involving study type in which plants were grown in growth chambers." []	71396	\N	\N	EFO	0	EFO	growth chamber study	growth chamber study
EO:0007231	\N	\N	"A plant experimental condition (EO:0007359) or set of conditions describing what kind of plant growth facility was used for the experiment.\\n" []	EO:0007269	"The treatment involving study type in which plants were grown in growth chambers." []	194968	\N	\N	EFO	0	EFO	study type (plant)	growth chamber study
EO:0007270	\N	\N	"The treatment involving continuous exposure to darkness (no light) to the plant." []	EO:0007270	"The treatment involving continuous exposure to darkness (no light) to the plant." []	71397	\N	\N	EFO	0	EFO	continuous dark (no light) regimen	continuous dark (no light) regimen
EO:0007078	EO:0007270	\N	"In biological experiments often it refer to the length of the exposure time. The treatment also includes the quantity of light falling on a per unit area. This may be expressed either in terms of hours for which teh radiation was available or in the units of luminous flux or the lumens." []	EO:0007270	"The treatment involving continuous exposure to darkness (no light) to the plant." []	213974	\N	\N	EFO	1	EFO	light quantity regimen	continuous dark (no light) regimen
EO:0007153	EO:0007078	\N	"In biological experiments it refer to the treatment involving radiation in terms of length of the exposure time. It also includes the quantity of radiation falling on a per unit area. This is expressed in the units of luminous flux or the lumens." []	EO:0007270	"The treatment involving continuous exposure to darkness (no light) to the plant." []	567902	\N	\N	EFO	2	EFO	radiation quantity regimen	continuous dark (no light) regimen
EO:0001001	EO:0007153	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007270	"The treatment involving continuous exposure to darkness (no light) to the plant." []	1149393	\N	\N	EFO	3	EFO	plant treatment	continuous dark (no light) regimen
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007270	"The treatment involving continuous exposure to darkness (no light) to the plant." []	2031618	\N	\N	EFO	4	EFO	treatment	continuous dark (no light) regimen
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007270	"The treatment involving continuous exposure to darkness (no light) to the plant." []	3182186	\N	\N	EFO	5	EFO	experimental process	continuous dark (no light) regimen
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007270	"The treatment involving continuous exposure to darkness (no light) to the plant." []	4390312	\N	\N	EFO	6	EFO	planned process	continuous dark (no light) regimen
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007270	"The treatment involving continuous exposure to darkness (no light) to the plant." []	5409697	\N	\N	EFO	7	EFO	process	continuous dark (no light) regimen
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007270	"The treatment involving continuous exposure to darkness (no light) to the plant." []	6147749	\N	\N	EFO	8	EFO	experimental factor	continuous dark (no light) regimen
EO:0007317	\N	\N	"The brown planthopper (Nilaparvata lugens) is a typical vascular feeder and considered one of the most serious pests of all rice herbivores." []	EO:0007317	"The brown planthopper (Nilaparvata lugens) is a typical vascular feeder and considered one of the most serious pests of all rice herbivores." []	71398	\N	\N	EFO	0	EFO	Nilaparvata lugens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Nilaparvata lugens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:50557	EO:0007317	\N	"Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." []	EO:0007317	"The brown planthopper (Nilaparvata lugens) is a typical vascular feeder and considered one of the most serious pests of all rice herbivores." []	213975	\N	\N	EFO	1	EFO	Insecta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Nilaparvata lugens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:6656	NCBITaxon:50557	\N	"An arthropod (from Greek arthro-, joint + podos, foot) is an invertebrate animal having an exoskeleton (external skeleton), a segmented body, and jointed appendages. Arthropods form the phylum Arthropoda, and include the insects, arachnids, myriapods, and crustaceans." []	EO:0007317	"The brown planthopper (Nilaparvata lugens) is a typical vascular feeder and considered one of the most serious pests of all rice herbivores." []	567903	\N	\N	EFO	2	EFO	Arthropoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Nilaparvata lugens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33208	NCBITaxon:6656	\N	"Metazoa or animals are multicellular, eukaryotic organisms" []	EO:0007317	"The brown planthopper (Nilaparvata lugens) is a typical vascular feeder and considered one of the most serious pests of all rice herbivores." []	1149394	\N	\N	EFO	3	EFO	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Nilaparvata lugens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33154	NCBITaxon:33208	\N	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	EO:0007317	"The brown planthopper (Nilaparvata lugens) is a typical vascular feeder and considered one of the most serious pests of all rice herbivores." []	2031619	\N	\N	EFO	4	EFO	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Nilaparvata lugens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33154	\N	"" []	EO:0007317	"The brown planthopper (Nilaparvata lugens) is a typical vascular feeder and considered one of the most serious pests of all rice herbivores." []	3182187	\N	\N	EFO	5	EFO	Eukaryota	Nilaparvata lugens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	EO:0007317	"The brown planthopper (Nilaparvata lugens) is a typical vascular feeder and considered one of the most serious pests of all rice herbivores." []	4390313	\N	\N	EFO	6	EFO	organism	Nilaparvata lugens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EO:0007317	"The brown planthopper (Nilaparvata lugens) is a typical vascular feeder and considered one of the most serious pests of all rice herbivores." []	5409698	\N	\N	EFO	7	EFO	material entity	Nilaparvata lugens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007317	"The brown planthopper (Nilaparvata lugens) is a typical vascular feeder and considered one of the most serious pests of all rice herbivores." []	6147750	\N	\N	EFO	8	EFO	experimental factor	Nilaparvata lugens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007319	\N	\N	"The treatment involving an exposure to above optimal air temperature, which may depend on the study type or the regional environment." []	EO:0007319	"The treatment involving an exposure to above optimal air temperature, which may depend on the study type or the regional environment." []	71399	\N	\N	EFO	0	EFO	warm/hot air temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	warm/hot air temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007173	EO:0007319	\N	"The treatment involving an exposure to above optimal temperature, which may depend on the study type or the regional environment." []	EO:0007319	"The treatment involving an exposure to above optimal air temperature, which may depend on the study type or the regional environment." []	213976	\N	\N	EFO	1	EFO	warm/hot temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	warm/hot air temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007191	EO:0007173	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007319	"The treatment involving an exposure to above optimal air temperature, which may depend on the study type or the regional environment." []	567904	\N	\N	EFO	2	EFO	abiotic plant treatment	warm/hot air temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001001	EO:0007191	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007319	"The treatment involving an exposure to above optimal air temperature, which may depend on the study type or the regional environment." []	1149395	\N	\N	EFO	3	EFO	plant treatment	warm/hot air temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007319	"The treatment involving an exposure to above optimal air temperature, which may depend on the study type or the regional environment." []	2031620	\N	\N	EFO	4	EFO	treatment	warm/hot air temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007319	"The treatment involving an exposure to above optimal air temperature, which may depend on the study type or the regional environment." []	3182188	\N	\N	EFO	5	EFO	experimental process	warm/hot air temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007319	"The treatment involving an exposure to above optimal air temperature, which may depend on the study type or the regional environment." []	4390314	\N	\N	EFO	6	EFO	planned process	warm/hot air temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007319	"The treatment involving an exposure to above optimal air temperature, which may depend on the study type or the regional environment." []	5409699	\N	\N	EFO	7	EFO	process	warm/hot air temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007319	"The treatment involving an exposure to above optimal air temperature, which may depend on the study type or the regional environment." []	6147751	\N	\N	EFO	8	EFO	experimental factor	warm/hot air temperature regimen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007337	\N	\N	"The phylum Nematoda (roundworms) is one of the most common phyla of animals, estimated to contain over a million species. Over 20,000 nematode species have been described, most of them are free-living but many are successful parasites of humans, animals, and plants, causing diseases of major socio-economic importance globally." []	EO:0007337	"The phylum Nematoda (roundworms) is one of the most common phyla of animals, estimated to contain over a million species. Over 20,000 nematode species have been described, most of them are free-living but many are successful parasites of humans, animals, and plants, causing diseases of major socio-economic importance globally." []	71400	\N	\N	EFO	0	EFO	Nematoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Nematoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33208	EO:0007337	\N	"Metazoa or animals are multicellular, eukaryotic organisms" []	EO:0007337	"The phylum Nematoda (roundworms) is one of the most common phyla of animals, estimated to contain over a million species. Over 20,000 nematode species have been described, most of them are free-living but many are successful parasites of humans, animals, and plants, causing diseases of major socio-economic importance globally." []	213977	\N	\N	EFO	1	EFO	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Nematoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33154	NCBITaxon:33208	\N	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	EO:0007337	"The phylum Nematoda (roundworms) is one of the most common phyla of animals, estimated to contain over a million species. Over 20,000 nematode species have been described, most of them are free-living but many are successful parasites of humans, animals, and plants, causing diseases of major socio-economic importance globally." []	567905	\N	\N	EFO	2	EFO	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Nematoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33154	\N	"" []	EO:0007337	"The phylum Nematoda (roundworms) is one of the most common phyla of animals, estimated to contain over a million species. Over 20,000 nematode species have been described, most of them are free-living but many are successful parasites of humans, animals, and plants, causing diseases of major socio-economic importance globally." []	1149396	\N	\N	EFO	3	EFO	Eukaryota	Nematoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	EO:0007337	"The phylum Nematoda (roundworms) is one of the most common phyla of animals, estimated to contain over a million species. Over 20,000 nematode species have been described, most of them are free-living but many are successful parasites of humans, animals, and plants, causing diseases of major socio-economic importance globally." []	2031621	\N	\N	EFO	4	EFO	organism	Nematoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	EO:0007337	"The phylum Nematoda (roundworms) is one of the most common phyla of animals, estimated to contain over a million species. Over 20,000 nematode species have been described, most of them are free-living but many are successful parasites of humans, animals, and plants, causing diseases of major socio-economic importance globally." []	3182189	\N	\N	EFO	5	EFO	material entity	Nematoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007337	"The phylum Nematoda (roundworms) is one of the most common phyla of animals, estimated to contain over a million species. Over 20,000 nematode species have been described, most of them are free-living but many are successful parasites of humans, animals, and plants, causing diseases of major socio-economic importance globally." []	4390315	\N	\N	EFO	6	EFO	experimental factor	Nematoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007357	\N	\N	"A plant treatment (EO:0001001) involving the application of a biotic or biological factor such as a microbe, insect, animal, or plant or a combination thereof. [database_cross_reference: PO:cooperl][database_cross_reference: GR:pj]" []	EO:0007357	"A plant treatment (EO:0001001) involving the application of a biotic or biological factor such as a microbe, insect, animal, or plant or a combination thereof. [database_cross_reference: PO:cooperl][database_cross_reference: GR:pj]" []	71401	\N	\N	EFO	0	EFO	biotic plant treatment	biotic plant treatment
EO:0001001	EO:0007357	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007357	"A plant treatment (EO:0001001) involving the application of a biotic or biological factor such as a microbe, insect, animal, or plant or a combination thereof. [database_cross_reference: PO:cooperl][database_cross_reference: GR:pj]" []	213978	\N	\N	EFO	1	EFO	plant treatment	biotic plant treatment
EFO:0000727	EO:0001001	\N	"A process in which the act is intended to modify or alter some other material entity," []	EO:0007357	"A plant treatment (EO:0001001) involving the application of a biotic or biological factor such as a microbe, insect, animal, or plant or a combination thereof. [database_cross_reference: PO:cooperl][database_cross_reference: GR:pj]" []	567906	\N	\N	EFO	2	EFO	treatment	biotic plant treatment
EFO:0002694	EFO:0000727	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	EO:0007357	"A plant treatment (EO:0001001) involving the application of a biotic or biological factor such as a microbe, insect, animal, or plant or a combination thereof. [database_cross_reference: PO:cooperl][database_cross_reference: GR:pj]" []	1149397	\N	\N	EFO	3	EFO	experimental process	biotic plant treatment
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	EO:0007357	"A plant treatment (EO:0001001) involving the application of a biotic or biological factor such as a microbe, insect, animal, or plant or a combination thereof. [database_cross_reference: PO:cooperl][database_cross_reference: GR:pj]" []	2031622	\N	\N	EFO	4	EFO	planned process	biotic plant treatment
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	EO:0007357	"A plant treatment (EO:0001001) involving the application of a biotic or biological factor such as a microbe, insect, animal, or plant or a combination thereof. [database_cross_reference: PO:cooperl][database_cross_reference: GR:pj]" []	3182190	\N	\N	EFO	5	EFO	process	biotic plant treatment
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	EO:0007357	"A plant treatment (EO:0001001) involving the application of a biotic or biological factor such as a microbe, insect, animal, or plant or a combination thereof. [database_cross_reference: PO:cooperl][database_cross_reference: GR:pj]" []	4390316	\N	\N	EFO	6	EFO	experimental factor	biotic plant treatment
FBbt:00000109	\N	\N	"" []	FBbt:00000109	"" []	71403	\N	\N	EFO	0	EFO	mesectoderm anlage	mesectoderm anlage
EFO:0003333	FBbt:00000109	\N	"" []	FBbt:00000109	"" []	213979	\N	\N	EFO	1	EFO	Drosophila developmental tissue	mesectoderm anlage
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00000109	"" []	567907	\N	\N	EFO	2	EFO	Drosophila component	mesectoderm anlage
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00000109	"" []	1149398	\N	\N	EFO	3	EFO	animal component	mesectoderm anlage
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00000109	"" []	2031623	\N	\N	EFO	4	EFO	anatomy basic component	mesectoderm anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00000109	"" []	3182191	\N	\N	EFO	5	EFO	organism part	mesectoderm anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00000109	"" []	4390317	\N	\N	EFO	6	EFO	material entity	mesectoderm anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00000109	"" []	5409700	\N	\N	EFO	7	EFO	experimental factor	mesectoderm anlage
FBbt:00000127	\N	\N	"" []	FBbt:00000127	"" []	71404	\N	\N	EFO	0	EFO	head mesoderm	head mesoderm
EFO:0003333	FBbt:00000127	\N	"" []	FBbt:00000127	"" []	213980	\N	\N	EFO	1	EFO	Drosophila developmental tissue	head mesoderm
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00000127	"" []	567908	\N	\N	EFO	2	EFO	Drosophila component	head mesoderm
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00000127	"" []	1149399	\N	\N	EFO	3	EFO	animal component	head mesoderm
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00000127	"" []	2031624	\N	\N	EFO	4	EFO	anatomy basic component	head mesoderm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00000127	"" []	3182192	\N	\N	EFO	5	EFO	organism part	head mesoderm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00000127	"" []	4390318	\N	\N	EFO	6	EFO	material entity	head mesoderm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00000127	"" []	5409701	\N	\N	EFO	7	EFO	experimental factor	head mesoderm
FBbt:00000197	\N	\N	"Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10)." []	FBbt:00000197	"Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10)." []	71405	\N	\N	EFO	0	EFO	posterior spiracle primordium	posterior spiracle primordium
EFO:0003333	FBbt:00000197	\N	"" []	FBbt:00000197	"Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10)." []	213981	\N	\N	EFO	1	EFO	Drosophila developmental tissue	posterior spiracle primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00000197	"Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10)." []	567909	\N	\N	EFO	2	EFO	Drosophila component	posterior spiracle primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00000197	"Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10)." []	1149400	\N	\N	EFO	3	EFO	animal component	posterior spiracle primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00000197	"Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10)." []	2031625	\N	\N	EFO	4	EFO	anatomy basic component	posterior spiracle primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00000197	"Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10)." []	3182193	\N	\N	EFO	5	EFO	organism part	posterior spiracle primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00000197	"Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10)." []	4390319	\N	\N	EFO	6	EFO	material entity	posterior spiracle primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00000197	"Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10)." []	5409702	\N	\N	EFO	7	EFO	experimental factor	posterior spiracle primordium
FBbt:00000210	\N	\N	"" []	FBbt:00000210	"" []	71406	\N	\N	EFO	0	EFO	anterior endoderm anlage	anterior endoderm anlage
EFO:0000795	FBbt:00000210	\N	"Embryonic structure (body structure)" []	FBbt:00000210	"" []	213982	\N	\N	EFO	1	EFO	animal developmental tissue	anterior endoderm anlage
EFO:0000787	EFO:0000795	\N	"" []	FBbt:00000210	"" []	567910	\N	\N	EFO	2	EFO	animal component	anterior endoderm anlage
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00000210	"" []	1149401	\N	\N	EFO	3	EFO	anatomy basic component	anterior endoderm anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00000210	"" []	2031626	\N	\N	EFO	4	EFO	organism part	anterior endoderm anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00000210	"" []	3182194	\N	\N	EFO	5	EFO	material entity	anterior endoderm anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00000210	"" []	4390320	\N	\N	EFO	6	EFO	experimental factor	anterior endoderm anlage
FBbt:00000441	\N	\N	"" []	FBbt:00000441	"" []	71407	\N	\N	EFO	0	EFO	hindgut proper primordium	hindgut proper primordium
EFO:0003335	FBbt:00000441	\N	"" []	FBbt:00000441	"" []	213983	\N	\N	EFO	1	EFO	Drosophila embryonic structure	hindgut proper primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00000441	"" []	567911	\N	\N	EFO	2	EFO	Drosophila component	hindgut proper primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00000441	"" []	1149402	\N	\N	EFO	3	EFO	animal component	hindgut proper primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00000441	"" []	2031627	\N	\N	EFO	4	EFO	anatomy basic component	hindgut proper primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00000441	"" []	3182195	\N	\N	EFO	5	EFO	organism part	hindgut proper primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00000441	"" []	4390321	\N	\N	EFO	6	EFO	material entity	hindgut proper primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00000441	"" []	5409703	\N	\N	EFO	7	EFO	experimental factor	hindgut proper primordium
FBbt:00000442	\N	\N	"" []	FBbt:00000442	"" []	71408	\N	\N	EFO	0	EFO	Malpighian tubule primordium	Malpighian tubule primordium
EFO:0003335	FBbt:00000442	\N	"" []	FBbt:00000442	"" []	213984	\N	\N	EFO	1	EFO	Drosophila embryonic structure	Malpighian tubule primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00000442	"" []	567912	\N	\N	EFO	2	EFO	Drosophila component	Malpighian tubule primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00000442	"" []	1149403	\N	\N	EFO	3	EFO	animal component	Malpighian tubule primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00000442	"" []	2031628	\N	\N	EFO	4	EFO	anatomy basic component	Malpighian tubule primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00000442	"" []	3182196	\N	\N	EFO	5	EFO	organism part	Malpighian tubule primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00000442	"" []	4390322	\N	\N	EFO	6	EFO	material entity	Malpighian tubule primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00000442	"" []	5409704	\N	\N	EFO	7	EFO	experimental factor	Malpighian tubule primordium
FBbt:00000444	\N	\N	"" []	FBbt:00000444	"" []	71409	\N	\N	EFO	0	EFO	anterior midgut primordium	anterior midgut primordium
EFO:0000795	FBbt:00000444	\N	"Embryonic structure (body structure)" []	FBbt:00000444	"" []	213985	\N	\N	EFO	1	EFO	animal developmental tissue	anterior midgut primordium
EFO:0000787	EFO:0000795	\N	"" []	FBbt:00000444	"" []	567913	\N	\N	EFO	2	EFO	animal component	anterior midgut primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00000444	"" []	1149404	\N	\N	EFO	3	EFO	anatomy basic component	anterior midgut primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00000444	"" []	2031629	\N	\N	EFO	4	EFO	organism part	anterior midgut primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00000444	"" []	3182197	\N	\N	EFO	5	EFO	material entity	anterior midgut primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00000444	"" []	4390323	\N	\N	EFO	6	EFO	experimental factor	anterior midgut primordium
FBbt:00000447	\N	\N	"" []	FBbt:00000447	"" []	71410	\N	\N	EFO	0	EFO	posterior endoderm anlage	posterior endoderm anlage
EFO:0003333	FBbt:00000447	\N	"" []	FBbt:00000447	"" []	213986	\N	\N	EFO	1	EFO	Drosophila developmental tissue	posterior endoderm anlage
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00000447	"" []	567914	\N	\N	EFO	2	EFO	Drosophila component	posterior endoderm anlage
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00000447	"" []	1149405	\N	\N	EFO	3	EFO	animal component	posterior endoderm anlage
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00000447	"" []	2031630	\N	\N	EFO	4	EFO	anatomy basic component	posterior endoderm anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00000447	"" []	3182198	\N	\N	EFO	5	EFO	organism part	posterior endoderm anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00000447	"" []	4390324	\N	\N	EFO	6	EFO	material entity	posterior endoderm anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00000447	"" []	5409705	\N	\N	EFO	7	EFO	experimental factor	posterior endoderm anlage
FBbt:00000461	\N	\N	"" []	FBbt:00000461	"" []	71411	\N	\N	EFO	0	EFO	embryonic inner optic lobe primordium	embryonic inner optic lobe primordium
EFO:0003335	FBbt:00000461	\N	"" []	FBbt:00000461	"" []	213987	\N	\N	EFO	1	EFO	Drosophila embryonic structure	embryonic inner optic lobe primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00000461	"" []	567915	\N	\N	EFO	2	EFO	Drosophila component	embryonic inner optic lobe primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00000461	"" []	1149406	\N	\N	EFO	3	EFO	animal component	embryonic inner optic lobe primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00000461	"" []	2031631	\N	\N	EFO	4	EFO	anatomy basic component	embryonic inner optic lobe primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00000461	"" []	3182199	\N	\N	EFO	5	EFO	organism part	embryonic inner optic lobe primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00000461	"" []	4390325	\N	\N	EFO	6	EFO	material entity	embryonic inner optic lobe primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00000461	"" []	5409706	\N	\N	EFO	7	EFO	experimental factor	embryonic inner optic lobe primordium
FBbt:00001069	\N	\N	"" []	FBbt:00001069	"" []	71412	\N	\N	EFO	0	EFO	embryonic stomatogastric nervous system	embryonic stomatogastric nervous system
EFO:0003334	FBbt:00001069	\N	"" []	FBbt:00001069	"" []	213988	\N	\N	EFO	1	EFO	Drosophila component	embryonic stomatogastric nervous system
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00001069	"" []	567916	\N	\N	EFO	2	EFO	animal component	embryonic stomatogastric nervous system
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00001069	"" []	1149407	\N	\N	EFO	3	EFO	anatomy basic component	embryonic stomatogastric nervous system
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00001069	"" []	2031632	\N	\N	EFO	4	EFO	organism part	embryonic stomatogastric nervous system
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00001069	"" []	3182200	\N	\N	EFO	5	EFO	material entity	embryonic stomatogastric nervous system
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00001069	"" []	4390326	\N	\N	EFO	6	EFO	experimental factor	embryonic stomatogastric nervous system
FBbt:00001315	\N	\N	"" []	FBbt:00001315	"" []	71413	\N	\N	EFO	0	EFO	ventral midline glia	ventral midline glia
EFO:0003334	FBbt:00001315	\N	"" []	FBbt:00001315	"" []	213989	\N	\N	EFO	1	EFO	Drosophila component	ventral midline glia
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00001315	"" []	567917	\N	\N	EFO	2	EFO	animal component	ventral midline glia
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00001315	"" []	1149408	\N	\N	EFO	3	EFO	anatomy basic component	ventral midline glia
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00001315	"" []	2031633	\N	\N	EFO	4	EFO	organism part	ventral midline glia
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00001315	"" []	3182201	\N	\N	EFO	5	EFO	material entity	ventral midline glia
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00001315	"" []	4390327	\N	\N	EFO	6	EFO	experimental factor	ventral midline glia
FBbt:00001433	\N	\N	"Any ganglion mother cell (FBbt:00005149) that is part of some embryo (FBbt:00000052)." []	FBbt:00001433	"Any ganglion mother cell (FBbt:00005149) that is part of some embryo (FBbt:00000052)." []	71414	\N	\N	EFO	0	EFO	embryonic ganglion mother cell	embryonic ganglion mother cell
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00001433	"Any ganglion mother cell (FBbt:00005149) that is part of some embryo (FBbt:00000052)." []	194970	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic ganglion mother cell
FBbt:00001724	\N	\N	"A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum." []	FBbt:00001724	"A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum." []	71416	\N	\N	EFO	0	EFO	prothoracic gland	prothoracic gland
EFO:0003334	FBbt:00001724	\N	"" []	FBbt:00001724	"A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum." []	213990	\N	\N	EFO	1	EFO	Drosophila component	prothoracic gland
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00001724	"A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum." []	567918	\N	\N	EFO	2	EFO	animal component	prothoracic gland
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00001724	"A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum." []	1149409	\N	\N	EFO	3	EFO	anatomy basic component	prothoracic gland
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00001724	"A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum." []	2031634	\N	\N	EFO	4	EFO	organism part	prothoracic gland
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00001724	"A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum." []	3182202	\N	\N	EFO	5	EFO	material entity	prothoracic gland
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00001724	"A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum." []	4390328	\N	\N	EFO	6	EFO	experimental factor	prothoracic gland
FBbt:00001761	\N	\N	"A sac shaped epithelial structure in the larva that gives rise to part of the adult integumentary system. One side of the sac consists of peripodial epithelium, the other of columnar epithelium. A single anterior-posterior compartment boundary bisects both peripodial membrane and columnar epithelium. Cells do not cross this boundary during growth and development of the disc." []	FBbt:00001761	"A sac shaped epithelial structure in the larva that gives rise to part of the adult integumentary system. One side of the sac consists of peripodial epithelium, the other of columnar epithelium. A single anterior-posterior compartment boundary bisects both peripodial membrane and columnar epithelium. Cells do not cross this boundary during growth and development of the disc." []	71417	\N	\N	EFO	0	EFO	imaginal disc	imaginal disc
EFO:0003335	FBbt:00001761	\N	"" []	FBbt:00001761	"A sac shaped epithelial structure in the larva that gives rise to part of the adult integumentary system. One side of the sac consists of peripodial epithelium, the other of columnar epithelium. A single anterior-posterior compartment boundary bisects both peripodial membrane and columnar epithelium. Cells do not cross this boundary during growth and development of the disc." []	213991	\N	\N	EFO	1	EFO	Drosophila embryonic structure	imaginal disc
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00001761	"A sac shaped epithelial structure in the larva that gives rise to part of the adult integumentary system. One side of the sac consists of peripodial epithelium, the other of columnar epithelium. A single anterior-posterior compartment boundary bisects both peripodial membrane and columnar epithelium. Cells do not cross this boundary during growth and development of the disc." []	567919	\N	\N	EFO	2	EFO	Drosophila component	imaginal disc
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00001761	"A sac shaped epithelial structure in the larva that gives rise to part of the adult integumentary system. One side of the sac consists of peripodial epithelium, the other of columnar epithelium. A single anterior-posterior compartment boundary bisects both peripodial membrane and columnar epithelium. Cells do not cross this boundary during growth and development of the disc." []	1149410	\N	\N	EFO	3	EFO	animal component	imaginal disc
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00001761	"A sac shaped epithelial structure in the larva that gives rise to part of the adult integumentary system. One side of the sac consists of peripodial epithelium, the other of columnar epithelium. A single anterior-posterior compartment boundary bisects both peripodial membrane and columnar epithelium. Cells do not cross this boundary during growth and development of the disc." []	2031635	\N	\N	EFO	4	EFO	anatomy basic component	imaginal disc
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00001761	"A sac shaped epithelial structure in the larva that gives rise to part of the adult integumentary system. One side of the sac consists of peripodial epithelium, the other of columnar epithelium. A single anterior-posterior compartment boundary bisects both peripodial membrane and columnar epithelium. Cells do not cross this boundary during growth and development of the disc." []	3182203	\N	\N	EFO	5	EFO	organism part	imaginal disc
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00001761	"A sac shaped epithelial structure in the larva that gives rise to part of the adult integumentary system. One side of the sac consists of peripodial epithelium, the other of columnar epithelium. A single anterior-posterior compartment boundary bisects both peripodial membrane and columnar epithelium. Cells do not cross this boundary during growth and development of the disc." []	4390329	\N	\N	EFO	6	EFO	material entity	imaginal disc
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00001761	"A sac shaped epithelial structure in the larva that gives rise to part of the adult integumentary system. One side of the sac consists of peripodial epithelium, the other of columnar epithelium. A single anterior-posterior compartment boundary bisects both peripodial membrane and columnar epithelium. Cells do not cross this boundary during growth and development of the disc." []	5409707	\N	\N	EFO	7	EFO	experimental factor	imaginal disc
FBbt:00001766	\N	\N	"Imaginal disc that, in the adults, gives rise to the eye, antenna, head capsule (including all bristles and external membranes) and the maxillary palps (Cohen, 1993)." []	FBbt:00001766	"Imaginal disc that, in the adults, gives rise to the eye, antenna, head capsule (including all bristles and external membranes) and the maxillary palps (Cohen, 1993)." []	71418	\N	\N	EFO	0	EFO	eye-antennal disc	eye-antennal disc
EFO:0003334	FBbt:00001766	\N	"" []	FBbt:00001766	"Imaginal disc that, in the adults, gives rise to the eye, antenna, head capsule (including all bristles and external membranes) and the maxillary palps (Cohen, 1993)." []	213992	\N	\N	EFO	1	EFO	Drosophila component	eye-antennal disc
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00001766	"Imaginal disc that, in the adults, gives rise to the eye, antenna, head capsule (including all bristles and external membranes) and the maxillary palps (Cohen, 1993)." []	567920	\N	\N	EFO	2	EFO	animal component	eye-antennal disc
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00001766	"Imaginal disc that, in the adults, gives rise to the eye, antenna, head capsule (including all bristles and external membranes) and the maxillary palps (Cohen, 1993)." []	1149411	\N	\N	EFO	3	EFO	anatomy basic component	eye-antennal disc
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00001766	"Imaginal disc that, in the adults, gives rise to the eye, antenna, head capsule (including all bristles and external membranes) and the maxillary palps (Cohen, 1993)." []	2031636	\N	\N	EFO	4	EFO	organism part	eye-antennal disc
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00001766	"Imaginal disc that, in the adults, gives rise to the eye, antenna, head capsule (including all bristles and external membranes) and the maxillary palps (Cohen, 1993)." []	3182204	\N	\N	EFO	5	EFO	material entity	eye-antennal disc
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00001766	"Imaginal disc that, in the adults, gives rise to the eye, antenna, head capsule (including all bristles and external membranes) and the maxillary palps (Cohen, 1993)." []	4390330	\N	\N	EFO	6	EFO	experimental factor	eye-antennal disc
FBbt:00001768	\N	\N	"Anterior, bulbous portion of the eye-antennal disc that gives rise to the eye as well as contributing to the head capsule (Cohen, 1993)." []	FBbt:00001768	"Anterior, bulbous portion of the eye-antennal disc that gives rise to the eye as well as contributing to the head capsule (Cohen, 1993)." []	71419	\N	\N	EFO	0	EFO	eye disc	eye disc
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00001768	"Anterior, bulbous portion of the eye-antennal disc that gives rise to the eye as well as contributing to the head capsule (Cohen, 1993)." []	194972	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	eye disc
FBbt:00001781	\N	\N	"Imaginal disc of the ventral prothoracic segment. Precursor of structures of the adult ventral prothorax including the prothoracic (1st) leg." []	FBbt:00001781	"Imaginal disc of the ventral prothoracic segment. Precursor of structures of the adult ventral prothorax including the prothoracic (1st) leg." []	71420	\N	\N	EFO	0	EFO	prothoracic leg disc	prothoracic leg disc
UBERON:0007688	\N	\N	"Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue." [FBbt:00005426, JB:DEF, Wikipedia:Anlage_(biology)]	FBbt:00001781	"Imaginal disc of the ventral prothoracic segment. Precursor of structures of the adult ventral prothorax including the prothoracic (1st) leg." []	194973	\N	efo_slim	EFO	0	EFO	anlage	prothoracic leg disc
FBbt:00001956	\N	\N	"The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system." []	FBbt:00001956	"The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system." []	71421	\N	\N	EFO	0	EFO	optic nerve	optic nerve
EFO:0000787	FBbt:00001956	\N	"" []	FBbt:00001956	"The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system." []	213993	\N	\N	EFO	1	EFO	animal component	optic nerve
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00001956	"The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system." []	567921	\N	\N	EFO	2	EFO	anatomy basic component	optic nerve
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00001956	"The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system." []	1149412	\N	\N	EFO	3	EFO	organism part	optic nerve
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00001956	"The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system." []	2031637	\N	\N	EFO	4	EFO	material entity	optic nerve
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00001956	"The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system." []	3182205	\N	\N	EFO	5	EFO	experimental factor	optic nerve
FBbt:00004011	\N	\N	"" []	FBbt:00004011	"" []	71422	\N	\N	EFO	0	EFO	dorsomedial neurosecretory cell	dorsomedial neurosecretory cell
EFO:0000795	FBbt:00004011	\N	"Embryonic structure (body structure)" []	FBbt:00004011	"" []	213994	\N	\N	EFO	1	EFO	animal developmental tissue	dorsomedial neurosecretory cell
EFO:0000787	EFO:0000795	\N	"" []	FBbt:00004011	"" []	567922	\N	\N	EFO	2	EFO	animal component	dorsomedial neurosecretory cell
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00004011	"" []	1149413	\N	\N	EFO	3	EFO	anatomy basic component	dorsomedial neurosecretory cell
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00004011	"" []	2031638	\N	\N	EFO	4	EFO	organism part	dorsomedial neurosecretory cell
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00004011	"" []	3182206	\N	\N	EFO	5	EFO	material entity	dorsomedial neurosecretory cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00004011	"" []	4390331	\N	\N	EFO	6	EFO	experimental factor	dorsomedial neurosecretory cell
FBbt:00004202	\N	\N	"" []	FBbt:00004202	"" []	71423	\N	\N	EFO	0	EFO	hindgut anlage	hindgut anlage
EFO:0003333	FBbt:00004202	\N	"" []	FBbt:00004202	"" []	213995	\N	\N	EFO	1	EFO	Drosophila developmental tissue	hindgut anlage
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00004202	"" []	567923	\N	\N	EFO	2	EFO	Drosophila component	hindgut anlage
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00004202	"" []	1149414	\N	\N	EFO	3	EFO	animal component	hindgut anlage
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00004202	"" []	2031639	\N	\N	EFO	4	EFO	anatomy basic component	hindgut anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00004202	"" []	3182207	\N	\N	EFO	5	EFO	organism part	hindgut anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00004202	"" []	4390332	\N	\N	EFO	6	EFO	material entity	hindgut anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00004202	"" []	5409708	\N	\N	EFO	7	EFO	experimental factor	hindgut anlage
FBbt:00004204	\N	\N	"" []	FBbt:00004204	"" []	71424	\N	\N	EFO	0	EFO	ventral ectoderm anlage	ventral ectoderm anlage
EFO:0003333	FBbt:00004204	\N	"" []	FBbt:00004204	"" []	213996	\N	\N	EFO	1	EFO	Drosophila developmental tissue	ventral ectoderm anlage
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00004204	"" []	567924	\N	\N	EFO	2	EFO	Drosophila component	ventral ectoderm anlage
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00004204	"" []	1149415	\N	\N	EFO	3	EFO	animal component	ventral ectoderm anlage
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00004204	"" []	2031640	\N	\N	EFO	4	EFO	anatomy basic component	ventral ectoderm anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00004204	"" []	3182208	\N	\N	EFO	5	EFO	organism part	ventral ectoderm anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00004204	"" []	4390333	\N	\N	EFO	6	EFO	material entity	ventral ectoderm anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00004204	"" []	5409709	\N	\N	EFO	7	EFO	experimental factor	ventral ectoderm anlage
FBbt:00004784	\N	\N	"Bulbous, distal-most segment of the haltere." []	FBbt:00004784	"Bulbous, distal-most segment of the haltere." []	71425	\N	\N	EFO	0	EFO	capitellum	capitellum
EFO:0003334	FBbt:00004784	\N	"" []	FBbt:00004784	"Bulbous, distal-most segment of the haltere." []	213997	\N	\N	EFO	1	EFO	Drosophila component	capitellum
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00004784	"Bulbous, distal-most segment of the haltere." []	567925	\N	\N	EFO	2	EFO	animal component	capitellum
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00004784	"Bulbous, distal-most segment of the haltere." []	1149416	\N	\N	EFO	3	EFO	anatomy basic component	capitellum
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00004784	"Bulbous, distal-most segment of the haltere." []	2031641	\N	\N	EFO	4	EFO	organism part	capitellum
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00004784	"Bulbous, distal-most segment of the haltere." []	3182209	\N	\N	EFO	5	EFO	material entity	capitellum
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00004784	"Bulbous, distal-most segment of the haltere." []	4390334	\N	\N	EFO	6	EFO	experimental factor	capitellum
FBbt:00004891	\N	\N	"" []	FBbt:00004891	"" []	71426	\N	\N	EFO	0	EFO	pole plasm	pole plasm
EFO:0003334	FBbt:00004891	\N	"" []	FBbt:00004891	"" []	213998	\N	\N	EFO	1	EFO	Drosophila component	pole plasm
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00004891	"" []	567926	\N	\N	EFO	2	EFO	animal component	pole plasm
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00004891	"" []	1149417	\N	\N	EFO	3	EFO	anatomy basic component	pole plasm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00004891	"" []	2031642	\N	\N	EFO	4	EFO	organism part	pole plasm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00004891	"" []	3182210	\N	\N	EFO	5	EFO	material entity	pole plasm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00004891	"" []	4390335	\N	\N	EFO	6	EFO	experimental factor	pole plasm
FBbt:00004914	\N	\N	"Small, bilaterally paired gland that lies behind the spermathecae and is connected to the uterus by a duct. The gland wall consists of a single layer of polygonal cells, each with a large vacuole and a minute acidophillic granule towards the gland lumen." []	FBbt:00004914	"Small, bilaterally paired gland that lies behind the spermathecae and is connected to the uterus by a duct. The gland wall consists of a single layer of polygonal cells, each with a large vacuole and a minute acidophillic granule towards the gland lumen." []	71427	\N	\N	EFO	0	EFO	female accessory gland	female accessory gland
EFO:0000787	FBbt:00004914	\N	"" []	FBbt:00004914	"Small, bilaterally paired gland that lies behind the spermathecae and is connected to the uterus by a duct. The gland wall consists of a single layer of polygonal cells, each with a large vacuole and a minute acidophillic granule towards the gland lumen." []	213999	\N	\N	EFO	1	EFO	animal component	female accessory gland
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00004914	"Small, bilaterally paired gland that lies behind the spermathecae and is connected to the uterus by a duct. The gland wall consists of a single layer of polygonal cells, each with a large vacuole and a minute acidophillic granule towards the gland lumen." []	567927	\N	\N	EFO	2	EFO	anatomy basic component	female accessory gland
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00004914	"Small, bilaterally paired gland that lies behind the spermathecae and is connected to the uterus by a duct. The gland wall consists of a single layer of polygonal cells, each with a large vacuole and a minute acidophillic granule towards the gland lumen." []	1149418	\N	\N	EFO	3	EFO	organism part	female accessory gland
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00004914	"Small, bilaterally paired gland that lies behind the spermathecae and is connected to the uterus by a duct. The gland wall consists of a single layer of polygonal cells, each with a large vacuole and a minute acidophillic granule towards the gland lumen." []	2031643	\N	\N	EFO	4	EFO	material entity	female accessory gland
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00004914	"Small, bilaterally paired gland that lies behind the spermathecae and is connected to the uterus by a duct. The gland wall consists of a single layer of polygonal cells, each with a large vacuole and a minute acidophillic granule towards the gland lumen." []	3182211	\N	\N	EFO	5	EFO	experimental factor	female accessory gland
FBbt:00005067	\N	\N	"The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body)." []	FBbt:00005067	"The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body)." []	71428	\N	\N	EFO	0	EFO	fat body primordium	fat body primordium
EFO:0003335	FBbt:00005067	\N	"" []	FBbt:00005067	"The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body)." []	214000	\N	\N	EFO	1	EFO	Drosophila embryonic structure	fat body primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005067	"The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body)." []	567928	\N	\N	EFO	2	EFO	Drosophila component	fat body primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005067	"The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body)." []	1149419	\N	\N	EFO	3	EFO	animal component	fat body primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005067	"The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body)." []	2031644	\N	\N	EFO	4	EFO	anatomy basic component	fat body primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005067	"The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body)." []	3182212	\N	\N	EFO	5	EFO	organism part	fat body primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005067	"The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body)." []	4390336	\N	\N	EFO	6	EFO	material entity	fat body primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005067	"The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body)." []	5409710	\N	\N	EFO	7	EFO	experimental factor	fat body primordium
FBbt:00005072	\N	\N	"" []	FBbt:00005072	"" []	71429	\N	\N	EFO	0	EFO	circular visceral muscle fibers	circular visceral muscle fibers
EFO:0000795	FBbt:00005072	\N	"Embryonic structure (body structure)" []	FBbt:00005072	"" []	214001	\N	\N	EFO	1	EFO	animal developmental tissue	circular visceral muscle fibers
EFO:0000787	EFO:0000795	\N	"" []	FBbt:00005072	"" []	567929	\N	\N	EFO	2	EFO	animal component	circular visceral muscle fibers
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005072	"" []	1149420	\N	\N	EFO	3	EFO	anatomy basic component	circular visceral muscle fibers
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005072	"" []	2031645	\N	\N	EFO	4	EFO	organism part	circular visceral muscle fibers
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005072	"" []	3182213	\N	\N	EFO	5	EFO	material entity	circular visceral muscle fibers
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005072	"" []	4390337	\N	\N	EFO	6	EFO	experimental factor	circular visceral muscle fibers
FBbt:00005422	\N	\N	"" []	FBbt:00005422	"" []	71430	\N	\N	EFO	0	EFO	amnioserosa anlage in statu nascendi	amnioserosa anlage in statu nascendi
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005422	"" []	194974	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	amnioserosa anlage in statu nascendi
FBbt:00005424	\N	\N	"" []	FBbt:00005424	"" []	71431	\N	\N	EFO	0	EFO	hindgut anlage in statu nascendi	hindgut anlage in statu nascendi
EFO:0003335	FBbt:00005424	\N	"" []	FBbt:00005424	"" []	214002	\N	\N	EFO	1	EFO	Drosophila embryonic structure	hindgut anlage in statu nascendi
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005424	"" []	567930	\N	\N	EFO	2	EFO	Drosophila component	hindgut anlage in statu nascendi
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005424	"" []	1149421	\N	\N	EFO	3	EFO	animal component	hindgut anlage in statu nascendi
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005424	"" []	2031646	\N	\N	EFO	4	EFO	anatomy basic component	hindgut anlage in statu nascendi
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005424	"" []	3182214	\N	\N	EFO	5	EFO	organism part	hindgut anlage in statu nascendi
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005424	"" []	4390338	\N	\N	EFO	6	EFO	material entity	hindgut anlage in statu nascendi
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005424	"" []	5409711	\N	\N	EFO	7	EFO	experimental factor	hindgut anlage in statu nascendi
FBbt:00005431	\N	\N	"" []	FBbt:00005431	"" []	71432	\N	\N	EFO	0	EFO	foregut anlage	foregut anlage
EFO:0003333	FBbt:00005431	\N	"" []	FBbt:00005431	"" []	214003	\N	\N	EFO	1	EFO	Drosophila developmental tissue	foregut anlage
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005431	"" []	567931	\N	\N	EFO	2	EFO	Drosophila component	foregut anlage
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005431	"" []	1149422	\N	\N	EFO	3	EFO	animal component	foregut anlage
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005431	"" []	2031647	\N	\N	EFO	4	EFO	anatomy basic component	foregut anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005431	"" []	3182215	\N	\N	EFO	5	EFO	organism part	foregut anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005431	"" []	4390339	\N	\N	EFO	6	EFO	material entity	foregut anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005431	"" []	5409712	\N	\N	EFO	7	EFO	experimental factor	foregut anlage
FBbt:00005442	\N	\N	"" []	FBbt:00005442	"" []	71433	\N	\N	EFO	0	EFO	hypopharynx anlage	hypopharynx anlage
EFO:0003333	FBbt:00005442	\N	"" []	FBbt:00005442	"" []	214004	\N	\N	EFO	1	EFO	Drosophila developmental tissue	hypopharynx anlage
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005442	"" []	567932	\N	\N	EFO	2	EFO	Drosophila component	hypopharynx anlage
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005442	"" []	1149423	\N	\N	EFO	3	EFO	animal component	hypopharynx anlage
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005442	"" []	2031648	\N	\N	EFO	4	EFO	anatomy basic component	hypopharynx anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005442	"" []	3182216	\N	\N	EFO	5	EFO	organism part	hypopharynx anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005442	"" []	4390340	\N	\N	EFO	6	EFO	material entity	hypopharynx anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005442	"" []	5409713	\N	\N	EFO	7	EFO	experimental factor	hypopharynx anlage
FBbt:00005466	\N	\N	"Anatomical structure: pericardial cell primordium - FBbt:00005466 - Drosophila melanogaster (fruitfly)" []	FBbt:00005466	"Anatomical structure: pericardial cell primordium - FBbt:00005466 - Drosophila melanogaster (fruitfly)" []	71434	\N	\N	EFO	0	EFO	pericardial cell primordium	pericardial cell primordium
EFO:0003333	FBbt:00005466	\N	"" []	FBbt:00005466	"Anatomical structure: pericardial cell primordium - FBbt:00005466 - Drosophila melanogaster (fruitfly)" []	214005	\N	\N	EFO	1	EFO	Drosophila developmental tissue	pericardial cell primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005466	"Anatomical structure: pericardial cell primordium - FBbt:00005466 - Drosophila melanogaster (fruitfly)" []	567933	\N	\N	EFO	2	EFO	Drosophila component	pericardial cell primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005466	"Anatomical structure: pericardial cell primordium - FBbt:00005466 - Drosophila melanogaster (fruitfly)" []	1149424	\N	\N	EFO	3	EFO	animal component	pericardial cell primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005466	"Anatomical structure: pericardial cell primordium - FBbt:00005466 - Drosophila melanogaster (fruitfly)" []	2031649	\N	\N	EFO	4	EFO	anatomy basic component	pericardial cell primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005466	"Anatomical structure: pericardial cell primordium - FBbt:00005466 - Drosophila melanogaster (fruitfly)" []	3182217	\N	\N	EFO	5	EFO	organism part	pericardial cell primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005466	"Anatomical structure: pericardial cell primordium - FBbt:00005466 - Drosophila melanogaster (fruitfly)" []	4390341	\N	\N	EFO	6	EFO	material entity	pericardial cell primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005466	"Anatomical structure: pericardial cell primordium - FBbt:00005466 - Drosophila melanogaster (fruitfly)" []	5409714	\N	\N	EFO	7	EFO	experimental factor	pericardial cell primordium
FBbt:00005498	\N	\N	"" []	FBbt:00005498	"" []	71435	\N	\N	EFO	0	EFO	dorsal pharyngeal muscle primordium	dorsal pharyngeal muscle primordium
EFO:0000795	FBbt:00005498	\N	"Embryonic structure (body structure)" []	FBbt:00005498	"" []	214006	\N	\N	EFO	1	EFO	animal developmental tissue	dorsal pharyngeal muscle primordium
EFO:0000787	EFO:0000795	\N	"" []	FBbt:00005498	"" []	567934	\N	\N	EFO	2	EFO	animal component	dorsal pharyngeal muscle primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005498	"" []	1149425	\N	\N	EFO	3	EFO	anatomy basic component	dorsal pharyngeal muscle primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005498	"" []	2031650	\N	\N	EFO	4	EFO	organism part	dorsal pharyngeal muscle primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005498	"" []	3182218	\N	\N	EFO	5	EFO	material entity	dorsal pharyngeal muscle primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005498	"" []	4390342	\N	\N	EFO	6	EFO	experimental factor	dorsal pharyngeal muscle primordium
FBbt:00005501	\N	\N	"" []	FBbt:00005501	"" []	71436	\N	\N	EFO	0	EFO	Malpighian tubule main body primordium	Malpighian tubule main body primordium
EFO:0003335	FBbt:00005501	\N	"" []	FBbt:00005501	"" []	214007	\N	\N	EFO	1	EFO	Drosophila embryonic structure	Malpighian tubule main body primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005501	"" []	567935	\N	\N	EFO	2	EFO	Drosophila component	Malpighian tubule main body primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005501	"" []	1149426	\N	\N	EFO	3	EFO	animal component	Malpighian tubule main body primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005501	"" []	2031651	\N	\N	EFO	4	EFO	anatomy basic component	Malpighian tubule main body primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005501	"" []	3182219	\N	\N	EFO	5	EFO	organism part	Malpighian tubule main body primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005501	"" []	4390343	\N	\N	EFO	6	EFO	material entity	Malpighian tubule main body primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005501	"" []	5409715	\N	\N	EFO	7	EFO	experimental factor	Malpighian tubule main body primordium
FBbt:00005504	\N	\N	"" []	FBbt:00005504	"" []	71437	\N	\N	EFO	0	EFO	small intestine primordium	small intestine primordium
EFO:0003335	FBbt:00005504	\N	"" []	FBbt:00005504	"" []	214008	\N	\N	EFO	1	EFO	Drosophila embryonic structure	small intestine primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005504	"" []	567936	\N	\N	EFO	2	EFO	Drosophila component	small intestine primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005504	"" []	1149427	\N	\N	EFO	3	EFO	animal component	small intestine primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005504	"" []	2031652	\N	\N	EFO	4	EFO	anatomy basic component	small intestine primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005504	"" []	3182220	\N	\N	EFO	5	EFO	organism part	small intestine primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005504	"" []	4390344	\N	\N	EFO	6	EFO	material entity	small intestine primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005504	"" []	5409716	\N	\N	EFO	7	EFO	experimental factor	small intestine primordium
FBbt:00005505	\N	\N	"" []	FBbt:00005505	"" []	71438	\N	\N	EFO	0	EFO	large intestine primordium	large intestine primordium
EFO:0003335	FBbt:00005505	\N	"" []	FBbt:00005505	"" []	214009	\N	\N	EFO	1	EFO	Drosophila embryonic structure	large intestine primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005505	"" []	567937	\N	\N	EFO	2	EFO	Drosophila component	large intestine primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005505	"" []	1149428	\N	\N	EFO	3	EFO	animal component	large intestine primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005505	"" []	2031653	\N	\N	EFO	4	EFO	anatomy basic component	large intestine primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005505	"" []	3182221	\N	\N	EFO	5	EFO	organism part	large intestine primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005505	"" []	4390345	\N	\N	EFO	6	EFO	material entity	large intestine primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005505	"" []	5409717	\N	\N	EFO	7	EFO	experimental factor	large intestine primordium
FBbt:00005506	\N	\N	"" []	FBbt:00005506	"" []	71439	\N	\N	EFO	0	EFO	rectum primordium	rectum primordium
EFO:0003335	FBbt:00005506	\N	"" []	FBbt:00005506	"" []	214010	\N	\N	EFO	1	EFO	Drosophila embryonic structure	rectum primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005506	"" []	567938	\N	\N	EFO	2	EFO	Drosophila component	rectum primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005506	"" []	1149429	\N	\N	EFO	3	EFO	animal component	rectum primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005506	"" []	2031654	\N	\N	EFO	4	EFO	anatomy basic component	rectum primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005506	"" []	3182222	\N	\N	EFO	5	EFO	organism part	rectum primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005506	"" []	4390346	\N	\N	EFO	6	EFO	material entity	rectum primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005506	"" []	5409718	\N	\N	EFO	7	EFO	experimental factor	rectum primordium
FBbt:00005508	\N	\N	"The development of the mushroom body proceeds as follows: Axonogenesis of embryonic Kenyon cells starts late in embryonic stage 14. The axons from these cells extend towards the lateral proto-cerebral tract (LTP). During stage 16, a second set of kenyon cell fibres form a second tract, closely apposed to the first.  By late stage 16, both tracts extend anteriorly beyond the LTP to form the distal part of the peduncle. These tracts make a sharp medial turn close to the boundary with the deutocerebrum to form the medial lobe. By late stage 17 the dorsal lobe has emerged as a collateral outgrowth from the point where these tracts bend. Finally, the calyx forms near to the end of embryogenesis." []	FBbt:00005508	"The development of the mushroom body proceeds as follows: Axonogenesis of embryonic Kenyon cells starts late in embryonic stage 14. The axons from these cells extend towards the lateral proto-cerebral tract (LTP). During stage 16, a second set of kenyon cell fibres form a second tract, closely apposed to the first.  By late stage 16, both tracts extend anteriorly beyond the LTP to form the distal part of the peduncle. These tracts make a sharp medial turn close to the boundary with the deutocerebrum to form the medial lobe. By late stage 17 the dorsal lobe has emerged as a collateral outgrowth from the point where these tracts bend. Finally, the calyx forms near to the end of embryogenesis." []	71440	\N	\N	EFO	0	EFO	embryonic central brain mushroom body	embryonic central brain mushroom body
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005508	"The development of the mushroom body proceeds as follows: Axonogenesis of embryonic Kenyon cells starts late in embryonic stage 14. The axons from these cells extend towards the lateral proto-cerebral tract (LTP). During stage 16, a second set of kenyon cell fibres form a second tract, closely apposed to the first.  By late stage 16, both tracts extend anteriorly beyond the LTP to form the distal part of the peduncle. These tracts make a sharp medial turn close to the boundary with the deutocerebrum to form the medial lobe. By late stage 17 the dorsal lobe has emerged as a collateral outgrowth from the point where these tracts bend. Finally, the calyx forms near to the end of embryogenesis." []	194975	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic central brain mushroom body
FBbt:00005510	\N	\N	"primodium of antenna" []	FBbt:00005510	"primodium of antenna" []	71441	\N	\N	EFO	0	EFO	antennal primordium	antennal primordium
EFO:0000795	FBbt:00005510	\N	"Embryonic structure (body structure)" []	FBbt:00005510	"primodium of antenna" []	214011	\N	\N	EFO	1	EFO	animal developmental tissue	antennal primordium
EFO:0000787	EFO:0000795	\N	"" []	FBbt:00005510	"primodium of antenna" []	567939	\N	\N	EFO	2	EFO	animal component	antennal primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005510	"primodium of antenna" []	1149430	\N	\N	EFO	3	EFO	anatomy basic component	antennal primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005510	"primodium of antenna" []	2031655	\N	\N	EFO	4	EFO	organism part	antennal primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005510	"primodium of antenna" []	3182223	\N	\N	EFO	5	EFO	material entity	antennal primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005510	"primodium of antenna" []	4390347	\N	\N	EFO	6	EFO	experimental factor	antennal primordium
FBbt:00005511	\N	\N	"" []	FBbt:00005511	"" []	71442	\N	\N	EFO	0	EFO	pars intercerebralis primordium	pars intercerebralis primordium
EFO:0003335	FBbt:00005511	\N	"" []	FBbt:00005511	"" []	214012	\N	\N	EFO	1	EFO	Drosophila embryonic structure	pars intercerebralis primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005511	"" []	567940	\N	\N	EFO	2	EFO	Drosophila component	pars intercerebralis primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005511	"" []	1149431	\N	\N	EFO	3	EFO	animal component	pars intercerebralis primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005511	"" []	2031656	\N	\N	EFO	4	EFO	anatomy basic component	pars intercerebralis primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005511	"" []	3182224	\N	\N	EFO	5	EFO	organism part	pars intercerebralis primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005511	"" []	4390348	\N	\N	EFO	6	EFO	material entity	pars intercerebralis primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005511	"" []	5409719	\N	\N	EFO	7	EFO	experimental factor	pars intercerebralis primordium
FBbt:00005512	\N	\N	"" []	FBbt:00005512	"" []	71443	\N	\N	EFO	0	EFO	salivary gland body primordium	salivary gland body primordium
EFO:0003335	FBbt:00005512	\N	"" []	FBbt:00005512	"" []	214013	\N	\N	EFO	1	EFO	Drosophila embryonic structure	salivary gland body primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005512	"" []	567941	\N	\N	EFO	2	EFO	Drosophila component	salivary gland body primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005512	"" []	1149432	\N	\N	EFO	3	EFO	animal component	salivary gland body primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005512	"" []	2031657	\N	\N	EFO	4	EFO	anatomy basic component	salivary gland body primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005512	"" []	3182225	\N	\N	EFO	5	EFO	organism part	salivary gland body primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005512	"" []	4390349	\N	\N	EFO	6	EFO	material entity	salivary gland body primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005512	"" []	5409720	\N	\N	EFO	7	EFO	experimental factor	salivary gland body primordium
FBbt:00005516	\N	\N	"" []	FBbt:00005516	"" []	71444	\N	\N	EFO	0	EFO	adult muscle precursor primordium	adult muscle precursor primordium
EFO:0000795	FBbt:00005516	\N	"Embryonic structure (body structure)" []	FBbt:00005516	"" []	214014	\N	\N	EFO	1	EFO	animal developmental tissue	adult muscle precursor primordium
EFO:0000787	EFO:0000795	\N	"" []	FBbt:00005516	"" []	567942	\N	\N	EFO	2	EFO	animal component	adult muscle precursor primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005516	"" []	1149433	\N	\N	EFO	3	EFO	anatomy basic component	adult muscle precursor primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005516	"" []	2031658	\N	\N	EFO	4	EFO	organism part	adult muscle precursor primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005516	"" []	3182226	\N	\N	EFO	5	EFO	material entity	adult muscle precursor primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005516	"" []	4390350	\N	\N	EFO	6	EFO	experimental factor	adult muscle precursor primordium
FBbt:00005518	\N	\N	"Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells." []	FBbt:00005518	"Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells." []	71445	\N	\N	EFO	0	EFO	somatic muscle primordium	somatic muscle primordium
EFO:0003335	FBbt:00005518	\N	"" []	FBbt:00005518	"Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells." []	214015	\N	\N	EFO	1	EFO	Drosophila embryonic structure	somatic muscle primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005518	"Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells." []	567943	\N	\N	EFO	2	EFO	Drosophila component	somatic muscle primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005518	"Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells." []	1149434	\N	\N	EFO	3	EFO	animal component	somatic muscle primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005518	"Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells." []	2031659	\N	\N	EFO	4	EFO	anatomy basic component	somatic muscle primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005518	"Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells." []	3182227	\N	\N	EFO	5	EFO	organism part	somatic muscle primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005518	"Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells." []	4390351	\N	\N	EFO	6	EFO	material entity	somatic muscle primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005518	"Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells." []	5409721	\N	\N	EFO	7	EFO	experimental factor	somatic muscle primordium
FBbt:00005519	\N	\N	"" []	FBbt:00005519	"" []	71446	\N	\N	EFO	0	EFO	visceral muscle primordium	visceral muscle primordium
EFO:0003333	FBbt:00005519	\N	"" []	FBbt:00005519	"" []	214016	\N	\N	EFO	1	EFO	Drosophila developmental tissue	visceral muscle primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005519	"" []	567944	\N	\N	EFO	2	EFO	Drosophila component	visceral muscle primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005519	"" []	1149435	\N	\N	EFO	3	EFO	animal component	visceral muscle primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005519	"" []	2031660	\N	\N	EFO	4	EFO	anatomy basic component	visceral muscle primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005519	"" []	3182228	\N	\N	EFO	5	EFO	organism part	visceral muscle primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005519	"" []	4390352	\N	\N	EFO	6	EFO	material entity	visceral muscle primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005519	"" []	5409722	\N	\N	EFO	7	EFO	experimental factor	visceral muscle primordium
FBbt:00005523	\N	\N	"" []	FBbt:00005523	"" []	71447	\N	\N	EFO	0	EFO	inclusive hindgut primordium	inclusive hindgut primordium
EFO:0003333	FBbt:00005523	\N	"" []	FBbt:00005523	"" []	214017	\N	\N	EFO	1	EFO	Drosophila developmental tissue	inclusive hindgut primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005523	"" []	567945	\N	\N	EFO	2	EFO	Drosophila component	inclusive hindgut primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005523	"" []	1149436	\N	\N	EFO	3	EFO	animal component	inclusive hindgut primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005523	"" []	2031661	\N	\N	EFO	4	EFO	anatomy basic component	inclusive hindgut primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005523	"" []	3182229	\N	\N	EFO	5	EFO	organism part	inclusive hindgut primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005523	"" []	4390353	\N	\N	EFO	6	EFO	material entity	inclusive hindgut primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005523	"" []	5409723	\N	\N	EFO	7	EFO	experimental factor	inclusive hindgut primordium
FBbt:00005528	\N	\N	"" []	FBbt:00005528	"" []	71448	\N	\N	EFO	0	EFO	midline primordium	midline primordium
EFO:0003335	FBbt:00005528	\N	"" []	FBbt:00005528	"" []	214018	\N	\N	EFO	1	EFO	Drosophila embryonic structure	midline primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005528	"" []	567946	\N	\N	EFO	2	EFO	Drosophila component	midline primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005528	"" []	1149437	\N	\N	EFO	3	EFO	animal component	midline primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005528	"" []	2031662	\N	\N	EFO	4	EFO	anatomy basic component	midline primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005528	"" []	3182230	\N	\N	EFO	5	EFO	organism part	midline primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005528	"" []	4390354	\N	\N	EFO	6	EFO	material entity	midline primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005528	"" []	5409724	\N	\N	EFO	7	EFO	experimental factor	midline primordium
FBbt:00005534	\N	\N	"" []	FBbt:00005534	"" []	71449	\N	\N	EFO	0	EFO	gnathal primordium	gnathal primordium
EFO:0003333	FBbt:00005534	\N	"" []	FBbt:00005534	"" []	214019	\N	\N	EFO	1	EFO	Drosophila developmental tissue	gnathal primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005534	"" []	567947	\N	\N	EFO	2	EFO	Drosophila component	gnathal primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005534	"" []	1149438	\N	\N	EFO	3	EFO	animal component	gnathal primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005534	"" []	2031663	\N	\N	EFO	4	EFO	anatomy basic component	gnathal primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005534	"" []	3182231	\N	\N	EFO	5	EFO	organism part	gnathal primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005534	"" []	4390355	\N	\N	EFO	6	EFO	material entity	gnathal primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005534	"" []	5409725	\N	\N	EFO	7	EFO	experimental factor	gnathal primordium
FBbt:00005535	\N	\N	"" []	FBbt:00005535	"" []	71450	\N	\N	EFO	0	EFO	foregut primordium	foregut primordium
EFO:0003333	FBbt:00005535	\N	"" []	FBbt:00005535	"" []	214020	\N	\N	EFO	1	EFO	Drosophila developmental tissue	foregut primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005535	"" []	567948	\N	\N	EFO	2	EFO	Drosophila component	foregut primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005535	"" []	1149439	\N	\N	EFO	3	EFO	animal component	foregut primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005535	"" []	2031664	\N	\N	EFO	4	EFO	anatomy basic component	foregut primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005535	"" []	3182232	\N	\N	EFO	5	EFO	organism part	foregut primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005535	"" []	4390356	\N	\N	EFO	6	EFO	material entity	foregut primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005535	"" []	5409726	\N	\N	EFO	7	EFO	experimental factor	foregut primordium
FBbt:00005536	\N	\N	"" []	FBbt:00005536	"" []	71451	\N	\N	EFO	0	EFO	stomatogastric nervous system primordium	stomatogastric nervous system primordium
EFO:0003335	FBbt:00005536	\N	"" []	FBbt:00005536	"" []	214021	\N	\N	EFO	1	EFO	Drosophila embryonic structure	stomatogastric nervous system primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005536	"" []	567949	\N	\N	EFO	2	EFO	Drosophila component	stomatogastric nervous system primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005536	"" []	1149440	\N	\N	EFO	3	EFO	animal component	stomatogastric nervous system primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005536	"" []	2031665	\N	\N	EFO	4	EFO	anatomy basic component	stomatogastric nervous system primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005536	"" []	3182233	\N	\N	EFO	5	EFO	organism part	stomatogastric nervous system primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005536	"" []	4390357	\N	\N	EFO	6	EFO	material entity	stomatogastric nervous system primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005536	"" []	5409727	\N	\N	EFO	7	EFO	experimental factor	stomatogastric nervous system primordium
FBbt:00005542	\N	\N	"Virtual Fly Brain: central brain primordium " []	FBbt:00005542	"Virtual Fly Brain: central brain primordium " []	71452	\N	\N	EFO	0	EFO	central brain primordium	central brain primordium
EFO:0003335	FBbt:00005542	\N	"" []	FBbt:00005542	"Virtual Fly Brain: central brain primordium " []	214022	\N	\N	EFO	1	EFO	Drosophila embryonic structure	central brain primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005542	"Virtual Fly Brain: central brain primordium " []	567950	\N	\N	EFO	2	EFO	Drosophila component	central brain primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005542	"Virtual Fly Brain: central brain primordium " []	1149441	\N	\N	EFO	3	EFO	animal component	central brain primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005542	"Virtual Fly Brain: central brain primordium " []	2031666	\N	\N	EFO	4	EFO	anatomy basic component	central brain primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005542	"Virtual Fly Brain: central brain primordium " []	3182234	\N	\N	EFO	5	EFO	organism part	central brain primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005542	"Virtual Fly Brain: central brain primordium " []	4390358	\N	\N	EFO	6	EFO	material entity	central brain primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005542	"Virtual Fly Brain: central brain primordium " []	5409728	\N	\N	EFO	7	EFO	experimental factor	central brain primordium
FBbt:00005544	\N	\N	"" []	FBbt:00005544	"" []	71453	\N	\N	EFO	0	EFO	maxillary sensory complex primordium	maxillary sensory complex primordium
EFO:0003333	FBbt:00005544	\N	"" []	FBbt:00005544	"" []	214023	\N	\N	EFO	1	EFO	Drosophila developmental tissue	maxillary sensory complex primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005544	"" []	567951	\N	\N	EFO	2	EFO	Drosophila component	maxillary sensory complex primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005544	"" []	1149442	\N	\N	EFO	3	EFO	animal component	maxillary sensory complex primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005544	"" []	2031667	\N	\N	EFO	4	EFO	anatomy basic component	maxillary sensory complex primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005544	"" []	3182235	\N	\N	EFO	5	EFO	organism part	maxillary sensory complex primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005544	"" []	4390359	\N	\N	EFO	6	EFO	material entity	maxillary sensory complex primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005544	"" []	5409729	\N	\N	EFO	7	EFO	experimental factor	maxillary sensory complex primordium
FBbt:00005545	\N	\N	"" []	FBbt:00005545	"" []	71454	\N	\N	EFO	0	EFO	labial sensory complex primordium	labial sensory complex primordium
EFO:0003333	FBbt:00005545	\N	"" []	FBbt:00005545	"" []	214024	\N	\N	EFO	1	EFO	Drosophila developmental tissue	labial sensory complex primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005545	"" []	567952	\N	\N	EFO	2	EFO	Drosophila component	labial sensory complex primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005545	"" []	1149443	\N	\N	EFO	3	EFO	animal component	labial sensory complex primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005545	"" []	2031668	\N	\N	EFO	4	EFO	anatomy basic component	labial sensory complex primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005545	"" []	3182236	\N	\N	EFO	5	EFO	organism part	labial sensory complex primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005545	"" []	4390360	\N	\N	EFO	6	EFO	material entity	labial sensory complex primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005545	"" []	5409730	\N	\N	EFO	7	EFO	experimental factor	labial sensory complex primordium
FBbt:00005546	\N	\N	"" []	FBbt:00005546	"" []	71455	\N	\N	EFO	0	EFO	labral sensory complex primordium	labral sensory complex primordium
EFO:0003333	FBbt:00005546	\N	"" []	FBbt:00005546	"" []	214025	\N	\N	EFO	1	EFO	Drosophila developmental tissue	labral sensory complex primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005546	"" []	567953	\N	\N	EFO	2	EFO	Drosophila component	labral sensory complex primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005546	"" []	1149444	\N	\N	EFO	3	EFO	animal component	labral sensory complex primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005546	"" []	2031669	\N	\N	EFO	4	EFO	anatomy basic component	labral sensory complex primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005546	"" []	3182237	\N	\N	EFO	5	EFO	organism part	labral sensory complex primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005546	"" []	4390361	\N	\N	EFO	6	EFO	material entity	labral sensory complex primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005546	"" []	5409731	\N	\N	EFO	7	EFO	experimental factor	labral sensory complex primordium
FBbt:00005548	\N	\N	"" []	FBbt:00005548	"" []	71456	\N	\N	EFO	0	EFO	head mesoderm anlage	head mesoderm anlage
EFO:0003333	FBbt:00005548	\N	"" []	FBbt:00005548	"" []	214026	\N	\N	EFO	1	EFO	Drosophila developmental tissue	head mesoderm anlage
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005548	"" []	567954	\N	\N	EFO	2	EFO	Drosophila component	head mesoderm anlage
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005548	"" []	1149445	\N	\N	EFO	3	EFO	animal component	head mesoderm anlage
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005548	"" []	2031670	\N	\N	EFO	4	EFO	anatomy basic component	head mesoderm anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005548	"" []	3182238	\N	\N	EFO	5	EFO	organism part	head mesoderm anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005548	"" []	4390362	\N	\N	EFO	6	EFO	material entity	head mesoderm anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005548	"" []	5409732	\N	\N	EFO	7	EFO	experimental factor	head mesoderm anlage
FBbt:00005550	\N	\N	"" []	FBbt:00005550	"" []	71457	\N	\N	EFO	0	EFO	proventriculus primordium	proventriculus primordium
EFO:0003333	FBbt:00005550	\N	"" []	FBbt:00005550	"" []	214027	\N	\N	EFO	1	EFO	Drosophila developmental tissue	proventriculus primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005550	"" []	567955	\N	\N	EFO	2	EFO	Drosophila component	proventriculus primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005550	"" []	1149446	\N	\N	EFO	3	EFO	animal component	proventriculus primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005550	"" []	2031671	\N	\N	EFO	4	EFO	anatomy basic component	proventriculus primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005550	"" []	3182239	\N	\N	EFO	5	EFO	organism part	proventriculus primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005550	"" []	4390363	\N	\N	EFO	6	EFO	material entity	proventriculus primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005550	"" []	5409733	\N	\N	EFO	7	EFO	experimental factor	proventriculus primordium
FBbt:00005551	\N	\N	"" []	FBbt:00005551	"" []	71458	\N	\N	EFO	0	EFO	sensory nervous system primordium	sensory nervous system primordium
EFO:0003333	FBbt:00005551	\N	"" []	FBbt:00005551	"" []	214028	\N	\N	EFO	1	EFO	Drosophila developmental tissue	sensory nervous system primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005551	"" []	567956	\N	\N	EFO	2	EFO	Drosophila component	sensory nervous system primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005551	"" []	1149447	\N	\N	EFO	3	EFO	animal component	sensory nervous system primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005551	"" []	2031672	\N	\N	EFO	4	EFO	anatomy basic component	sensory nervous system primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005551	"" []	3182240	\N	\N	EFO	5	EFO	organism part	sensory nervous system primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005551	"" []	4390364	\N	\N	EFO	6	EFO	material entity	sensory nervous system primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005551	"" []	5409734	\N	\N	EFO	7	EFO	experimental factor	sensory nervous system primordium
FBbt:00005552	\N	\N	"" []	FBbt:00005552	"" []	71459	\N	\N	EFO	0	EFO	ventral sensory complex primordium	ventral sensory complex primordium
EFO:0003333	FBbt:00005552	\N	"" []	FBbt:00005552	"" []	214029	\N	\N	EFO	1	EFO	Drosophila developmental tissue	ventral sensory complex primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005552	"" []	567957	\N	\N	EFO	2	EFO	Drosophila component	ventral sensory complex primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005552	"" []	1149448	\N	\N	EFO	3	EFO	animal component	ventral sensory complex primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005552	"" []	2031673	\N	\N	EFO	4	EFO	anatomy basic component	ventral sensory complex primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005552	"" []	3182241	\N	\N	EFO	5	EFO	organism part	ventral sensory complex primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005552	"" []	4390365	\N	\N	EFO	6	EFO	material entity	ventral sensory complex primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005552	"" []	5409735	\N	\N	EFO	7	EFO	experimental factor	ventral sensory complex primordium
FBbt:00005554	\N	\N	"Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium." []	FBbt:00005554	"Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium." []	71460	\N	\N	EFO	0	EFO	ventral nerve cord primordium	ventral nerve cord primordium
EFO:0003334	FBbt:00005554	\N	"" []	FBbt:00005554	"Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium." []	214030	\N	\N	EFO	1	EFO	Drosophila component	ventral nerve cord primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005554	"Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium." []	567958	\N	\N	EFO	2	EFO	animal component	ventral nerve cord primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005554	"Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium." []	1149449	\N	\N	EFO	3	EFO	anatomy basic component	ventral nerve cord primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005554	"Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium." []	2031674	\N	\N	EFO	4	EFO	organism part	ventral nerve cord primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005554	"Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium." []	3182242	\N	\N	EFO	5	EFO	material entity	ventral nerve cord primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005554	"Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium." []	4390366	\N	\N	EFO	6	EFO	experimental factor	ventral nerve cord primordium
FBbt:00005556	\N	\N	"" []	FBbt:00005556	"" []	71461	\N	\N	EFO	0	EFO	apoptotic amnioserosa	apoptotic amnioserosa
EFO:0000795	FBbt:00005556	\N	"Embryonic structure (body structure)" []	FBbt:00005556	"" []	214031	\N	\N	EFO	1	EFO	animal developmental tissue	apoptotic amnioserosa
EFO:0000787	EFO:0000795	\N	"" []	FBbt:00005556	"" []	567959	\N	\N	EFO	2	EFO	animal component	apoptotic amnioserosa
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005556	"" []	1149450	\N	\N	EFO	3	EFO	anatomy basic component	apoptotic amnioserosa
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005556	"" []	2031675	\N	\N	EFO	4	EFO	organism part	apoptotic amnioserosa
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005556	"" []	3182243	\N	\N	EFO	5	EFO	material entity	apoptotic amnioserosa
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005556	"" []	4390367	\N	\N	EFO	6	EFO	experimental factor	apoptotic amnioserosa
FBbt:00005565	\N	\N	"" []	FBbt:00005565	"" []	71462	\N	\N	EFO	0	EFO	ventral midline neuroblast	ventral midline neuroblast
EFO:0003335	FBbt:00005565	\N	"" []	FBbt:00005565	"" []	214032	\N	\N	EFO	1	EFO	Drosophila embryonic structure	ventral midline neuroblast
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005565	"" []	567960	\N	\N	EFO	2	EFO	Drosophila component	ventral midline neuroblast
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005565	"" []	1149451	\N	\N	EFO	3	EFO	animal component	ventral midline neuroblast
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005565	"" []	2031676	\N	\N	EFO	4	EFO	anatomy basic component	ventral midline neuroblast
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005565	"" []	3182244	\N	\N	EFO	5	EFO	organism part	ventral midline neuroblast
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005565	"" []	4390368	\N	\N	EFO	6	EFO	material entity	ventral midline neuroblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005565	"" []	5409736	\N	\N	EFO	7	EFO	experimental factor	ventral midline neuroblast
FBbt:00005566	\N	\N	"" []	FBbt:00005566	"" []	71463	\N	\N	EFO	0	EFO	ventral midline neuron	ventral midline neuron
EFO:0003334	FBbt:00005566	\N	"" []	FBbt:00005566	"" []	214033	\N	\N	EFO	1	EFO	Drosophila component	ventral midline neuron
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005566	"" []	567961	\N	\N	EFO	2	EFO	animal component	ventral midline neuron
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005566	"" []	1149452	\N	\N	EFO	3	EFO	anatomy basic component	ventral midline neuron
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005566	"" []	2031677	\N	\N	EFO	4	EFO	organism part	ventral midline neuron
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005566	"" []	3182245	\N	\N	EFO	5	EFO	material entity	ventral midline neuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005566	"" []	4390369	\N	\N	EFO	6	EFO	experimental factor	ventral midline neuron
FBbt:00005568	\N	\N	"" []	FBbt:00005568	"" []	71464	\N	\N	EFO	0	EFO	embryonic antennal sense organ	embryonic antennal sense organ
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005568	"" []	194976	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic antennal sense organ
FBbt:00005571	\N	\N	"" []	FBbt:00005571	"" []	71465	\N	\N	EFO	0	EFO	embryonic tracheole	embryonic tracheole
EFO:0003334	FBbt:00005571	\N	"" []	FBbt:00005571	"" []	214034	\N	\N	EFO	1	EFO	Drosophila component	embryonic tracheole
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005571	"" []	567962	\N	\N	EFO	2	EFO	animal component	embryonic tracheole
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005571	"" []	1149453	\N	\N	EFO	3	EFO	anatomy basic component	embryonic tracheole
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005571	"" []	2031678	\N	\N	EFO	4	EFO	organism part	embryonic tracheole
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005571	"" []	3182246	\N	\N	EFO	5	EFO	material entity	embryonic tracheole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005571	"" []	4390370	\N	\N	EFO	6	EFO	experimental factor	embryonic tracheole
FBbt:00005606	\N	\N	"" []	FBbt:00005606	"" []	71466	\N	\N	EFO	0	EFO	embryonic foregut	embryonic foregut
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005606	"" []	194977	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic foregut
FBbt:00005608	\N	\N	"" []	FBbt:00005608	"" []	71467	\N	\N	EFO	0	EFO	embryonic proventriculus inner layer	embryonic proventriculus inner layer
EFO:0003334	FBbt:00005608	\N	"" []	FBbt:00005608	"" []	214035	\N	\N	EFO	1	EFO	Drosophila component	embryonic proventriculus inner layer
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005608	"" []	567963	\N	\N	EFO	2	EFO	animal component	embryonic proventriculus inner layer
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005608	"" []	1149454	\N	\N	EFO	3	EFO	anatomy basic component	embryonic proventriculus inner layer
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005608	"" []	2031679	\N	\N	EFO	4	EFO	organism part	embryonic proventriculus inner layer
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005608	"" []	3182247	\N	\N	EFO	5	EFO	material entity	embryonic proventriculus inner layer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005608	"" []	4390371	\N	\N	EFO	6	EFO	experimental factor	embryonic proventriculus inner layer
FBbt:00005609	\N	\N	"" []	FBbt:00005609	"" []	71468	\N	\N	EFO	0	EFO	embryonic proventriculus intermediate layer	embryonic proventriculus intermediate layer
EFO:0003334	FBbt:00005609	\N	"" []	FBbt:00005609	"" []	214036	\N	\N	EFO	1	EFO	Drosophila component	embryonic proventriculus intermediate layer
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005609	"" []	567964	\N	\N	EFO	2	EFO	animal component	embryonic proventriculus intermediate layer
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005609	"" []	1149455	\N	\N	EFO	3	EFO	anatomy basic component	embryonic proventriculus intermediate layer
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005609	"" []	2031680	\N	\N	EFO	4	EFO	organism part	embryonic proventriculus intermediate layer
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005609	"" []	3182248	\N	\N	EFO	5	EFO	material entity	embryonic proventriculus intermediate layer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005609	"" []	4390372	\N	\N	EFO	6	EFO	experimental factor	embryonic proventriculus intermediate layer
FBbt:00005610	\N	\N	"" []	FBbt:00005610	"" []	71469	\N	\N	EFO	0	EFO	embryonic proventriculus outer layer	embryonic proventriculus outer layer
EFO:0003334	FBbt:00005610	\N	"" []	FBbt:00005610	"" []	214037	\N	\N	EFO	1	EFO	Drosophila component	embryonic proventriculus outer layer
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005610	"" []	567965	\N	\N	EFO	2	EFO	animal component	embryonic proventriculus outer layer
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005610	"" []	1149456	\N	\N	EFO	3	EFO	anatomy basic component	embryonic proventriculus outer layer
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005610	"" []	2031681	\N	\N	EFO	4	EFO	organism part	embryonic proventriculus outer layer
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005610	"" []	3182249	\N	\N	EFO	5	EFO	material entity	embryonic proventriculus outer layer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005610	"" []	4390373	\N	\N	EFO	6	EFO	experimental factor	embryonic proventriculus outer layer
FBbt:00005611	\N	\N	"" []	FBbt:00005611	"" []	71470	\N	\N	EFO	0	EFO	adult foregut precursor	adult foregut precursor
EFO:0000795	FBbt:00005611	\N	"Embryonic structure (body structure)" []	FBbt:00005611	"" []	214038	\N	\N	EFO	1	EFO	animal developmental tissue	adult foregut precursor
EFO:0000787	EFO:0000795	\N	"" []	FBbt:00005611	"" []	567966	\N	\N	EFO	2	EFO	animal component	adult foregut precursor
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005611	"" []	1149457	\N	\N	EFO	3	EFO	anatomy basic component	adult foregut precursor
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005611	"" []	2031682	\N	\N	EFO	4	EFO	organism part	adult foregut precursor
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005611	"" []	3182250	\N	\N	EFO	5	EFO	material entity	adult foregut precursor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005611	"" []	4390374	\N	\N	EFO	6	EFO	experimental factor	adult foregut precursor
FBbt:00005612	\N	\N	"" []	FBbt:00005612	"" []	71471	\N	\N	EFO	0	EFO	embryonic esophagus	embryonic esophagus
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005612	"" []	194978	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic esophagus
FBbt:00005614	\N	\N	"" []	FBbt:00005614	"" []	71472	\N	\N	EFO	0	EFO	embryonic epipharynx	embryonic epipharynx
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005614	"" []	194979	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic epipharynx
FBbt:00005616	\N	\N	"" []	FBbt:00005616	"" []	71473	\N	\N	EFO	0	EFO	embryonic foregut sensory structure	embryonic foregut sensory structure
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005616	"" []	194980	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic foregut sensory structure
FBbt:00005618	\N	\N	"" []	FBbt:00005618	"" []	71474	\N	\N	EFO	0	EFO	embryonic maxillary sensory complex	embryonic maxillary sensory complex
EFO:0003335	FBbt:00005618	\N	"" []	FBbt:00005618	"" []	214039	\N	\N	EFO	1	EFO	Drosophila embryonic structure	embryonic maxillary sensory complex
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005618	"" []	567967	\N	\N	EFO	2	EFO	Drosophila component	embryonic maxillary sensory complex
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005618	"" []	1149458	\N	\N	EFO	3	EFO	animal component	embryonic maxillary sensory complex
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005618	"" []	2031683	\N	\N	EFO	4	EFO	anatomy basic component	embryonic maxillary sensory complex
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005618	"" []	3182251	\N	\N	EFO	5	EFO	organism part	embryonic maxillary sensory complex
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005618	"" []	4390375	\N	\N	EFO	6	EFO	material entity	embryonic maxillary sensory complex
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005618	"" []	5409737	\N	\N	EFO	7	EFO	experimental factor	embryonic maxillary sensory complex
FBbt:00005619	\N	\N	"" []	FBbt:00005619	"" []	71475	\N	\N	EFO	0	EFO	embryonic labial sensory complex	embryonic labial sensory complex
EFO:0003334	FBbt:00005619	\N	"" []	FBbt:00005619	"" []	214040	\N	\N	EFO	1	EFO	Drosophila component	embryonic labial sensory complex
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005619	"" []	567968	\N	\N	EFO	2	EFO	animal component	embryonic labial sensory complex
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005619	"" []	1149459	\N	\N	EFO	3	EFO	anatomy basic component	embryonic labial sensory complex
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005619	"" []	2031684	\N	\N	EFO	4	EFO	organism part	embryonic labial sensory complex
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005619	"" []	3182252	\N	\N	EFO	5	EFO	material entity	embryonic labial sensory complex
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005619	"" []	4390376	\N	\N	EFO	6	EFO	experimental factor	embryonic labial sensory complex
FBbt:00005630	\N	\N	"" []	FBbt:00005630	"" []	71476	\N	\N	EFO	0	EFO	embryonic hindgut	embryonic hindgut
EFO:0003335	FBbt:00005630	\N	"" []	FBbt:00005630	"" []	214041	\N	\N	EFO	1	EFO	Drosophila embryonic structure	embryonic hindgut
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005630	"" []	567969	\N	\N	EFO	2	EFO	Drosophila component	embryonic hindgut
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005630	"" []	1149460	\N	\N	EFO	3	EFO	animal component	embryonic hindgut
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005630	"" []	2031685	\N	\N	EFO	4	EFO	anatomy basic component	embryonic hindgut
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005630	"" []	3182253	\N	\N	EFO	5	EFO	organism part	embryonic hindgut
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005630	"" []	4390377	\N	\N	EFO	6	EFO	material entity	embryonic hindgut
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005630	"" []	5409738	\N	\N	EFO	7	EFO	experimental factor	embryonic hindgut
FBbt:00005643	\N	\N	"" []	FBbt:00005643	"" []	71477	\N	\N	EFO	0	EFO	embryonic Malpighian tubule tip cell	embryonic Malpighian tubule tip cell
EFO:0003335	FBbt:00005643	\N	"" []	FBbt:00005643	"" []	214042	\N	\N	EFO	1	EFO	Drosophila embryonic structure	embryonic Malpighian tubule tip cell
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005643	"" []	567970	\N	\N	EFO	2	EFO	Drosophila component	embryonic Malpighian tubule tip cell
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005643	"" []	1149461	\N	\N	EFO	3	EFO	animal component	embryonic Malpighian tubule tip cell
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005643	"" []	2031686	\N	\N	EFO	4	EFO	anatomy basic component	embryonic Malpighian tubule tip cell
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005643	"" []	3182254	\N	\N	EFO	5	EFO	organism part	embryonic Malpighian tubule tip cell
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005643	"" []	4390378	\N	\N	EFO	6	EFO	material entity	embryonic Malpighian tubule tip cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005643	"" []	5409739	\N	\N	EFO	7	EFO	experimental factor	embryonic Malpighian tubule tip cell
FBbt:00005646	\N	\N	"" []	FBbt:00005646	"" []	71478	\N	\N	EFO	0	EFO	adult hindgut precursor	adult hindgut precursor
EFO:0000795	FBbt:00005646	\N	"Embryonic structure (body structure)" []	FBbt:00005646	"" []	214043	\N	\N	EFO	1	EFO	animal developmental tissue	adult hindgut precursor
EFO:0000787	EFO:0000795	\N	"" []	FBbt:00005646	"" []	567971	\N	\N	EFO	2	EFO	animal component	adult hindgut precursor
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005646	"" []	1149462	\N	\N	EFO	3	EFO	anatomy basic component	adult hindgut precursor
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005646	"" []	2031687	\N	\N	EFO	4	EFO	organism part	adult hindgut precursor
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005646	"" []	3182255	\N	\N	EFO	5	EFO	material entity	adult hindgut precursor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005646	"" []	4390379	\N	\N	EFO	6	EFO	experimental factor	adult hindgut precursor
FBbt:00005662	\N	\N	"" []	FBbt:00005662	"" []	71479	\N	\N	EFO	0	EFO	embryonic central brain	embryonic central brain
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005662	"" []	194981	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic central brain
FBbt:00005663	\N	\N	"" []	FBbt:00005663	"" []	71480	\N	\N	EFO	0	EFO	embryonic central brain glia	embryonic central brain glia
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005663	"" []	194982	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic central brain glia
FBbt:00005664	\N	\N	"" []	FBbt:00005664	"" []	71481	\N	\N	EFO	0	EFO	embryonic central brain surface glia	embryonic central brain surface glia
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005664	"" []	194983	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic central brain surface glia
FBbt:00005665	\N	\N	"" []	FBbt:00005665	"" []	71482	\N	\N	EFO	0	EFO	embryonic central brain neuron	embryonic central brain neuron
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005665	"" []	194984	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic central brain neuron
FBbt:00005667	\N	\N	"" []	FBbt:00005667	"" []	71483	\N	\N	EFO	0	EFO	embryonic central brain pars intercerebralis	embryonic central brain pars intercerebralis
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005667	"" []	194985	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic central brain pars intercerebralis
FBbt:00005668	\N	\N	"" []	FBbt:00005668	"" []	71484	\N	\N	EFO	0	EFO	embryonic frontal ganglion	embryonic frontal ganglion
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005668	"" []	194986	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic frontal ganglion
FBbt:00005669	\N	\N	"" []	FBbt:00005669	"" []	71485	\N	\N	EFO	0	EFO	embryonic hypocerebral ganglion	embryonic hypocerebral ganglion
EFO:0003334	FBbt:00005669	\N	"" []	FBbt:00005669	"" []	214044	\N	\N	EFO	1	EFO	Drosophila component	embryonic hypocerebral ganglion
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005669	"" []	567972	\N	\N	EFO	2	EFO	animal component	embryonic hypocerebral ganglion
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005669	"" []	1149463	\N	\N	EFO	3	EFO	anatomy basic component	embryonic hypocerebral ganglion
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005669	"" []	2031688	\N	\N	EFO	4	EFO	organism part	embryonic hypocerebral ganglion
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005669	"" []	3182256	\N	\N	EFO	5	EFO	material entity	embryonic hypocerebral ganglion
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005669	"" []	4390380	\N	\N	EFO	6	EFO	experimental factor	embryonic hypocerebral ganglion
FBbt:00005670	\N	\N	"" []	FBbt:00005670	"" []	71486	\N	\N	EFO	0	EFO	embryonic esophageal ganglion	embryonic esophageal ganglion
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005670	"" []	194987	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic esophageal ganglion
FBbt:00005673	\N	\N	"" []	FBbt:00005673	"" []	71487	\N	\N	EFO	0	EFO	lateral cord glia	lateral cord glia
EFO:0003334	FBbt:00005673	\N	"" []	FBbt:00005673	"" []	214045	\N	\N	EFO	1	EFO	Drosophila component	lateral cord glia
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005673	"" []	567973	\N	\N	EFO	2	EFO	animal component	lateral cord glia
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005673	"" []	1149464	\N	\N	EFO	3	EFO	anatomy basic component	lateral cord glia
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005673	"" []	2031689	\N	\N	EFO	4	EFO	organism part	lateral cord glia
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005673	"" []	3182257	\N	\N	EFO	5	EFO	material entity	lateral cord glia
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005673	"" []	4390381	\N	\N	EFO	6	EFO	experimental factor	lateral cord glia
FBbt:00005675	\N	\N	"" []	FBbt:00005675	"" []	71488	\N	\N	EFO	0	EFO	lateral cord neuron	lateral cord neuron
EFO:0003334	FBbt:00005675	\N	"" []	FBbt:00005675	"" []	214046	\N	\N	EFO	1	EFO	Drosophila component	lateral cord neuron
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005675	"" []	567974	\N	\N	EFO	2	EFO	animal component	lateral cord neuron
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005675	"" []	1149465	\N	\N	EFO	3	EFO	anatomy basic component	lateral cord neuron
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005675	"" []	2031690	\N	\N	EFO	4	EFO	organism part	lateral cord neuron
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005675	"" []	3182258	\N	\N	EFO	5	EFO	material entity	lateral cord neuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005675	"" []	4390382	\N	\N	EFO	6	EFO	experimental factor	lateral cord neuron
FBbt:00005744	\N	\N	"" []	FBbt:00005744	"" []	71489	\N	\N	EFO	0	EFO	embryonic dorsal epidermis	embryonic dorsal epidermis
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005744	"" []	194988	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic dorsal epidermis
FBbt:00005745	\N	\N	"" []	FBbt:00005745	"" []	71490	\N	\N	EFO	0	EFO	embryonic dorsal apodeme	embryonic dorsal apodeme
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005745	"" []	194989	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic dorsal apodeme
FBbt:00005746	\N	\N	"Cell at the leading edge of the dorsal epidermis during dorsal closure." []	FBbt:00005746	"Cell at the leading edge of the dorsal epidermis during dorsal closure." []	71491	\N	\N	EFO	0	EFO	embryonic leading edge cell	embryonic leading edge cell
EFO:0003334	FBbt:00005746	\N	"" []	FBbt:00005746	"Cell at the leading edge of the dorsal epidermis during dorsal closure." []	214047	\N	\N	EFO	1	EFO	Drosophila component	embryonic leading edge cell
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005746	"Cell at the leading edge of the dorsal epidermis during dorsal closure." []	567975	\N	\N	EFO	2	EFO	animal component	embryonic leading edge cell
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005746	"Cell at the leading edge of the dorsal epidermis during dorsal closure." []	1149466	\N	\N	EFO	3	EFO	anatomy basic component	embryonic leading edge cell
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005746	"Cell at the leading edge of the dorsal epidermis during dorsal closure." []	2031691	\N	\N	EFO	4	EFO	organism part	embryonic leading edge cell
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005746	"Cell at the leading edge of the dorsal epidermis during dorsal closure." []	3182259	\N	\N	EFO	5	EFO	material entity	embryonic leading edge cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005746	"Cell at the leading edge of the dorsal epidermis during dorsal closure." []	4390383	\N	\N	EFO	6	EFO	experimental factor	embryonic leading edge cell
FBbt:00005748	\N	\N	"" []	FBbt:00005748	"" []	71492	\N	\N	EFO	0	EFO	embryonic anal pad	embryonic anal pad
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00005748	"" []	194990	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic anal pad
FBbt:00005749	\N	\N	"" []	FBbt:00005749	"" []	71493	\N	\N	EFO	0	EFO	embryonic ventral apodeme	embryonic ventral apodeme
EFO:0003334	FBbt:00005749	\N	"" []	FBbt:00005749	"" []	214048	\N	\N	EFO	1	EFO	Drosophila component	embryonic ventral apodeme
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005749	"" []	567976	\N	\N	EFO	2	EFO	animal component	embryonic ventral apodeme
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005749	"" []	1149467	\N	\N	EFO	3	EFO	anatomy basic component	embryonic ventral apodeme
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005749	"" []	2031692	\N	\N	EFO	4	EFO	organism part	embryonic ventral apodeme
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005749	"" []	3182260	\N	\N	EFO	5	EFO	material entity	embryonic ventral apodeme
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005749	"" []	4390384	\N	\N	EFO	6	EFO	experimental factor	embryonic ventral apodeme
FBbt:00005822	\N	\N	"" []	FBbt:00005822	"" []	71494	\N	\N	EFO	0	EFO	embryonic outer optic lobe primordium	embryonic outer optic lobe primordium
EFO:0003335	FBbt:00005822	\N	"" []	FBbt:00005822	"" []	214049	\N	\N	EFO	1	EFO	Drosophila embryonic structure	embryonic outer optic lobe primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00005822	"" []	567977	\N	\N	EFO	2	EFO	Drosophila component	embryonic outer optic lobe primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005822	"" []	1149468	\N	\N	EFO	3	EFO	animal component	embryonic outer optic lobe primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005822	"" []	2031693	\N	\N	EFO	4	EFO	anatomy basic component	embryonic outer optic lobe primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005822	"" []	3182261	\N	\N	EFO	5	EFO	organism part	embryonic outer optic lobe primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005822	"" []	4390385	\N	\N	EFO	6	EFO	material entity	embryonic outer optic lobe primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005822	"" []	5409740	\N	\N	EFO	7	EFO	experimental factor	embryonic outer optic lobe primordium
FBbt:00005824	\N	\N	"" []	FBbt:00005824	"" []	71495	\N	\N	EFO	0	EFO	lateral cord surface glia	lateral cord surface glia
EFO:0003334	FBbt:00005824	\N	"" []	FBbt:00005824	"" []	214050	\N	\N	EFO	1	EFO	Drosophila component	lateral cord surface glia
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005824	"" []	567978	\N	\N	EFO	2	EFO	animal component	lateral cord surface glia
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005824	"" []	1149469	\N	\N	EFO	3	EFO	anatomy basic component	lateral cord surface glia
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005824	"" []	2031694	\N	\N	EFO	4	EFO	organism part	lateral cord surface glia
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005824	"" []	3182262	\N	\N	EFO	5	EFO	material entity	lateral cord surface glia
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005824	"" []	4390386	\N	\N	EFO	6	EFO	experimental factor	lateral cord surface glia
FBbt:00005834	\N	\N	"" []	FBbt:00005834	"" []	71496	\N	\N	EFO	0	EFO	ventral imaginal precursor	ventral imaginal precursor
EFO:0003333	FBbt:00005834	\N	"" []	FBbt:00005834	"" []	214051	\N	\N	EFO	1	EFO	Drosophila developmental tissue	ventral imaginal precursor
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00005834	"" []	567979	\N	\N	EFO	2	EFO	Drosophila component	ventral imaginal precursor
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00005834	"" []	1149470	\N	\N	EFO	3	EFO	animal component	ventral imaginal precursor
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00005834	"" []	2031695	\N	\N	EFO	4	EFO	anatomy basic component	ventral imaginal precursor
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00005834	"" []	3182263	\N	\N	EFO	5	EFO	organism part	ventral imaginal precursor
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00005834	"" []	4390387	\N	\N	EFO	6	EFO	material entity	ventral imaginal precursor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00005834	"" []	5409741	\N	\N	EFO	7	EFO	experimental factor	ventral imaginal precursor
FBbt:00007049	\N	\N	"" []	FBbt:00007049	"" []	71497	\N	\N	EFO	0	EFO	head visceral muscle primordium	head visceral muscle primordium
EFO:0003333	FBbt:00007049	\N	"" []	FBbt:00007049	"" []	214052	\N	\N	EFO	1	EFO	Drosophila developmental tissue	head visceral muscle primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00007049	"" []	567980	\N	\N	EFO	2	EFO	Drosophila component	head visceral muscle primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00007049	"" []	1149471	\N	\N	EFO	3	EFO	animal component	head visceral muscle primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00007049	"" []	2031696	\N	\N	EFO	4	EFO	anatomy basic component	head visceral muscle primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00007049	"" []	3182264	\N	\N	EFO	5	EFO	organism part	head visceral muscle primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00007049	"" []	4390388	\N	\N	EFO	6	EFO	material entity	head visceral muscle primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00007049	"" []	5409742	\N	\N	EFO	7	EFO	experimental factor	head visceral muscle primordium
FBbt:00015256	\N	\N	"" []	FBbt:00015256	"" []	71498	\N	\N	EFO	0	EFO	central brain anlage	central brain anlage
EFO:0003333	FBbt:00015256	\N	"" []	FBbt:00015256	"" []	214053	\N	\N	EFO	1	EFO	Drosophila developmental tissue	central brain anlage
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00015256	"" []	567981	\N	\N	EFO	2	EFO	Drosophila component	central brain anlage
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00015256	"" []	1149472	\N	\N	EFO	3	EFO	animal component	central brain anlage
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00015256	"" []	2031697	\N	\N	EFO	4	EFO	anatomy basic component	central brain anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00015256	"" []	3182265	\N	\N	EFO	5	EFO	organism part	central brain anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00015256	"" []	4390389	\N	\N	EFO	6	EFO	material entity	central brain anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00015256	"" []	5409743	\N	\N	EFO	7	EFO	experimental factor	central brain anlage
FBbt:00016000	\N	\N	"Anatomical structure: hypopharynx anlage in statu nascendi - FBbt:00016000 - Drosophila melanogaster (fruitfly)" []	FBbt:00016000	"Anatomical structure: hypopharynx anlage in statu nascendi - FBbt:00016000 - Drosophila melanogaster (fruitfly)" []	71499	\N	\N	EFO	0	EFO	hypopharynx anlage in statu nascendi	hypopharynx anlage in statu nascendi
EFO:0003335	FBbt:00016000	\N	"" []	FBbt:00016000	"Anatomical structure: hypopharynx anlage in statu nascendi - FBbt:00016000 - Drosophila melanogaster (fruitfly)" []	214054	\N	\N	EFO	1	EFO	Drosophila embryonic structure	hypopharynx anlage in statu nascendi
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00016000	"Anatomical structure: hypopharynx anlage in statu nascendi - FBbt:00016000 - Drosophila melanogaster (fruitfly)" []	567982	\N	\N	EFO	2	EFO	Drosophila component	hypopharynx anlage in statu nascendi
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00016000	"Anatomical structure: hypopharynx anlage in statu nascendi - FBbt:00016000 - Drosophila melanogaster (fruitfly)" []	1149473	\N	\N	EFO	3	EFO	animal component	hypopharynx anlage in statu nascendi
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00016000	"Anatomical structure: hypopharynx anlage in statu nascendi - FBbt:00016000 - Drosophila melanogaster (fruitfly)" []	2031698	\N	\N	EFO	4	EFO	anatomy basic component	hypopharynx anlage in statu nascendi
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00016000	"Anatomical structure: hypopharynx anlage in statu nascendi - FBbt:00016000 - Drosophila melanogaster (fruitfly)" []	3182266	\N	\N	EFO	5	EFO	organism part	hypopharynx anlage in statu nascendi
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00016000	"Anatomical structure: hypopharynx anlage in statu nascendi - FBbt:00016000 - Drosophila melanogaster (fruitfly)" []	4390390	\N	\N	EFO	6	EFO	material entity	hypopharynx anlage in statu nascendi
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00016000	"Anatomical structure: hypopharynx anlage in statu nascendi - FBbt:00016000 - Drosophila melanogaster (fruitfly)" []	5409744	\N	\N	EFO	7	EFO	experimental factor	hypopharynx anlage in statu nascendi
FBbt:00016001	\N	\N	"Anatomical structure: hypopharyngeal sense organ primordium - FBbt:00016001 - Drosophila melanogaster (fruitfly)" []	FBbt:00016001	"Anatomical structure: hypopharyngeal sense organ primordium - FBbt:00016001 - Drosophila melanogaster (fruitfly)" []	71500	\N	\N	EFO	0	EFO	hypopharyngeal sense organ primordium	hypopharyngeal sense organ primordium
EFO:0003335	FBbt:00016001	\N	"" []	FBbt:00016001	"Anatomical structure: hypopharyngeal sense organ primordium - FBbt:00016001 - Drosophila melanogaster (fruitfly)" []	214055	\N	\N	EFO	1	EFO	Drosophila embryonic structure	hypopharyngeal sense organ primordium
EFO:0003334	EFO:0003335	\N	"" []	FBbt:00016001	"Anatomical structure: hypopharyngeal sense organ primordium - FBbt:00016001 - Drosophila melanogaster (fruitfly)" []	567983	\N	\N	EFO	2	EFO	Drosophila component	hypopharyngeal sense organ primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00016001	"Anatomical structure: hypopharyngeal sense organ primordium - FBbt:00016001 - Drosophila melanogaster (fruitfly)" []	1149474	\N	\N	EFO	3	EFO	animal component	hypopharyngeal sense organ primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00016001	"Anatomical structure: hypopharyngeal sense organ primordium - FBbt:00016001 - Drosophila melanogaster (fruitfly)" []	2031699	\N	\N	EFO	4	EFO	anatomy basic component	hypopharyngeal sense organ primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00016001	"Anatomical structure: hypopharyngeal sense organ primordium - FBbt:00016001 - Drosophila melanogaster (fruitfly)" []	3182267	\N	\N	EFO	5	EFO	organism part	hypopharyngeal sense organ primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00016001	"Anatomical structure: hypopharyngeal sense organ primordium - FBbt:00016001 - Drosophila melanogaster (fruitfly)" []	4390391	\N	\N	EFO	6	EFO	material entity	hypopharyngeal sense organ primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00016001	"Anatomical structure: hypopharyngeal sense organ primordium - FBbt:00016001 - Drosophila melanogaster (fruitfly)" []	5409745	\N	\N	EFO	7	EFO	experimental factor	hypopharyngeal sense organ primordium
FBbt:00017000	\N	\N	"Anatomical structure: amnioserosa primordium - FBbt:00017000 - Drosophila melanogaster (fruitfly)" []	FBbt:00017000	"Anatomical structure: amnioserosa primordium - FBbt:00017000 - Drosophila melanogaster (fruitfly)" []	71501	\N	\N	EFO	0	EFO	amnioserosa primordium	amnioserosa primordium
EFO:0003333	FBbt:00017000	\N	"" []	FBbt:00017000	"Anatomical structure: amnioserosa primordium - FBbt:00017000 - Drosophila melanogaster (fruitfly)" []	214056	\N	\N	EFO	1	EFO	Drosophila developmental tissue	amnioserosa primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00017000	"Anatomical structure: amnioserosa primordium - FBbt:00017000 - Drosophila melanogaster (fruitfly)" []	567984	\N	\N	EFO	2	EFO	Drosophila component	amnioserosa primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00017000	"Anatomical structure: amnioserosa primordium - FBbt:00017000 - Drosophila melanogaster (fruitfly)" []	1149475	\N	\N	EFO	3	EFO	animal component	amnioserosa primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00017000	"Anatomical structure: amnioserosa primordium - FBbt:00017000 - Drosophila melanogaster (fruitfly)" []	2031700	\N	\N	EFO	4	EFO	anatomy basic component	amnioserosa primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00017000	"Anatomical structure: amnioserosa primordium - FBbt:00017000 - Drosophila melanogaster (fruitfly)" []	3182268	\N	\N	EFO	5	EFO	organism part	amnioserosa primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00017000	"Anatomical structure: amnioserosa primordium - FBbt:00017000 - Drosophila melanogaster (fruitfly)" []	4390392	\N	\N	EFO	6	EFO	material entity	amnioserosa primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00017000	"Anatomical structure: amnioserosa primordium - FBbt:00017000 - Drosophila melanogaster (fruitfly)" []	5409746	\N	\N	EFO	7	EFO	experimental factor	amnioserosa primordium
FBbt:00017003	\N	\N	"Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." []	FBbt:00017003	"Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." []	71502	\N	\N	EFO	0	EFO	visceral branch primordium	visceral branch primordium
EFO:0003333	FBbt:00017003	\N	"" []	FBbt:00017003	"Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." []	214057	\N	\N	EFO	1	EFO	Drosophila developmental tissue	visceral branch primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00017003	"Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." []	567985	\N	\N	EFO	2	EFO	Drosophila component	visceral branch primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00017003	"Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." []	1149476	\N	\N	EFO	3	EFO	animal component	visceral branch primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00017003	"Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." []	2031701	\N	\N	EFO	4	EFO	anatomy basic component	visceral branch primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00017003	"Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." []	3182269	\N	\N	EFO	5	EFO	organism part	visceral branch primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00017003	"Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." []	4390393	\N	\N	EFO	6	EFO	material entity	visceral branch primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00017003	"Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." []	5409747	\N	\N	EFO	7	EFO	experimental factor	visceral branch primordium
FBbt:00017008	\N	\N	"This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium." []	FBbt:00017008	"This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium." []	71503	\N	\N	EFO	0	EFO	longitudinal visceral muscle primordium	longitudinal visceral muscle primordium
EFO:0003333	FBbt:00017008	\N	"" []	FBbt:00017008	"This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium." []	214058	\N	\N	EFO	1	EFO	Drosophila developmental tissue	longitudinal visceral muscle primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00017008	"This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium." []	567986	\N	\N	EFO	2	EFO	Drosophila component	longitudinal visceral muscle primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00017008	"This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium." []	1149477	\N	\N	EFO	3	EFO	animal component	longitudinal visceral muscle primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00017008	"This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium." []	2031702	\N	\N	EFO	4	EFO	anatomy basic component	longitudinal visceral muscle primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00017008	"This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium." []	3182270	\N	\N	EFO	5	EFO	organism part	longitudinal visceral muscle primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00017008	"This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium." []	4390394	\N	\N	EFO	6	EFO	material entity	longitudinal visceral muscle primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00017008	"This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium." []	5409748	\N	\N	EFO	7	EFO	experimental factor	longitudinal visceral muscle primordium
FBbt:00017009	\N	\N	"Anatomical structure: ring gland primordium - FBbt:00017009 - Drosophila melanogaster (fruitfly)" []	FBbt:00017009	"Anatomical structure: ring gland primordium - FBbt:00017009 - Drosophila melanogaster (fruitfly)" []	71504	\N	\N	EFO	0	EFO	ring gland primordium	ring gland primordium
EFO:0003334	FBbt:00017009	\N	"" []	FBbt:00017009	"Anatomical structure: ring gland primordium - FBbt:00017009 - Drosophila melanogaster (fruitfly)" []	214059	\N	\N	EFO	1	EFO	Drosophila component	ring gland primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00017009	"Anatomical structure: ring gland primordium - FBbt:00017009 - Drosophila melanogaster (fruitfly)" []	567987	\N	\N	EFO	2	EFO	animal component	ring gland primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00017009	"Anatomical structure: ring gland primordium - FBbt:00017009 - Drosophila melanogaster (fruitfly)" []	1149478	\N	\N	EFO	3	EFO	anatomy basic component	ring gland primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00017009	"Anatomical structure: ring gland primordium - FBbt:00017009 - Drosophila melanogaster (fruitfly)" []	2031703	\N	\N	EFO	4	EFO	organism part	ring gland primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00017009	"Anatomical structure: ring gland primordium - FBbt:00017009 - Drosophila melanogaster (fruitfly)" []	3182271	\N	\N	EFO	5	EFO	material entity	ring gland primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00017009	"Anatomical structure: ring gland primordium - FBbt:00017009 - Drosophila melanogaster (fruitfly)" []	4390395	\N	\N	EFO	6	EFO	experimental factor	ring gland primordium
FBbt:00017010	\N	\N	"" []	FBbt:00017010	"" []	71505	\N	\N	EFO	0	EFO	dorsal trunk specific anlage	dorsal trunk specific anlage
EFO:0000795	FBbt:00017010	\N	"Embryonic structure (body structure)" []	FBbt:00017010	"" []	214060	\N	\N	EFO	1	EFO	animal developmental tissue	dorsal trunk specific anlage
EFO:0000787	EFO:0000795	\N	"" []	FBbt:00017010	"" []	567988	\N	\N	EFO	2	EFO	animal component	dorsal trunk specific anlage
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00017010	"" []	1149479	\N	\N	EFO	3	EFO	anatomy basic component	dorsal trunk specific anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00017010	"" []	2031704	\N	\N	EFO	4	EFO	organism part	dorsal trunk specific anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00017010	"" []	3182272	\N	\N	EFO	5	EFO	material entity	dorsal trunk specific anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00017010	"" []	4390396	\N	\N	EFO	6	EFO	experimental factor	dorsal trunk specific anlage
FBbt:00017011	\N	\N	"Primordium that develops into a primary trachea." []	FBbt:00017011	"Primordium that develops into a primary trachea." []	71506	\N	\N	EFO	0	EFO	primary segmental branch primordium	primary segmental branch primordium
EFO:0003333	FBbt:00017011	\N	"" []	FBbt:00017011	"Primordium that develops into a primary trachea." []	214061	\N	\N	EFO	1	EFO	Drosophila developmental tissue	primary segmental branch primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00017011	"Primordium that develops into a primary trachea." []	567989	\N	\N	EFO	2	EFO	Drosophila component	primary segmental branch primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00017011	"Primordium that develops into a primary trachea." []	1149480	\N	\N	EFO	3	EFO	animal component	primary segmental branch primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00017011	"Primordium that develops into a primary trachea." []	2031705	\N	\N	EFO	4	EFO	anatomy basic component	primary segmental branch primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00017011	"Primordium that develops into a primary trachea." []	3182273	\N	\N	EFO	5	EFO	organism part	primary segmental branch primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00017011	"Primordium that develops into a primary trachea." []	4390397	\N	\N	EFO	6	EFO	material entity	primary segmental branch primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00017011	"Primordium that develops into a primary trachea." []	5409749	\N	\N	EFO	7	EFO	experimental factor	primary segmental branch primordium
FBbt:00017019	\N	\N	"Anatomical structure: cibarium primordium - FBbt:00017019 - Drosophila melanogaster (fruitfly)" []	FBbt:00017019	"Anatomical structure: cibarium primordium - FBbt:00017019 - Drosophila melanogaster (fruitfly)" []	71507	\N	\N	EFO	0	EFO	cibarium primordium	cibarium primordium
EFO:0003334	FBbt:00017019	\N	"" []	FBbt:00017019	"Anatomical structure: cibarium primordium - FBbt:00017019 - Drosophila melanogaster (fruitfly)" []	214062	\N	\N	EFO	1	EFO	Drosophila component	cibarium primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00017019	"Anatomical structure: cibarium primordium - FBbt:00017019 - Drosophila melanogaster (fruitfly)" []	567990	\N	\N	EFO	2	EFO	animal component	cibarium primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00017019	"Anatomical structure: cibarium primordium - FBbt:00017019 - Drosophila melanogaster (fruitfly)" []	1149481	\N	\N	EFO	3	EFO	anatomy basic component	cibarium primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00017019	"Anatomical structure: cibarium primordium - FBbt:00017019 - Drosophila melanogaster (fruitfly)" []	2031706	\N	\N	EFO	4	EFO	organism part	cibarium primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00017019	"Anatomical structure: cibarium primordium - FBbt:00017019 - Drosophila melanogaster (fruitfly)" []	3182274	\N	\N	EFO	5	EFO	material entity	cibarium primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00017019	"Anatomical structure: cibarium primordium - FBbt:00017019 - Drosophila melanogaster (fruitfly)" []	4390398	\N	\N	EFO	6	EFO	experimental factor	cibarium primordium
FBbt:00017020	\N	\N	"A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12." []	FBbt:00017020	"A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12." []	71508	\N	\N	EFO	0	EFO	oenocyte primordium	oenocyte primordium
EFO:0003333	FBbt:00017020	\N	"" []	FBbt:00017020	"A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12." []	214063	\N	\N	EFO	1	EFO	Drosophila developmental tissue	oenocyte primordium
EFO:0003334	EFO:0003333	\N	"" []	FBbt:00017020	"A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12." []	567991	\N	\N	EFO	2	EFO	Drosophila component	oenocyte primordium
EFO:0000787	EFO:0003334	\N	"" []	FBbt:00017020	"A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12." []	1149482	\N	\N	EFO	3	EFO	animal component	oenocyte primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:00017020	"A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12." []	2031707	\N	\N	EFO	4	EFO	anatomy basic component	oenocyte primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:00017020	"A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12." []	3182275	\N	\N	EFO	5	EFO	organism part	oenocyte primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:00017020	"A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12." []	4390399	\N	\N	EFO	6	EFO	material entity	oenocyte primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:00017020	"A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12." []	5409750	\N	\N	EFO	7	EFO	experimental factor	oenocyte primordium
FBbt:00017027	\N	\N	"Primordium of the gastric caecum of the larva. There are four of these per midgut. They first become apparent as evaginations at the anterior end of the fused midgut primordium during stage 16." []	FBbt:00017027	"Primordium of the gastric caecum of the larva. There are four of these per midgut. They first become apparent as evaginations at the anterior end of the fused midgut primordium during stage 16." []	71509	\N	\N	EFO	0	EFO	embryonic gastric caecum	embryonic gastric caecum
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	FBbt:00017027	"Primordium of the gastric caecum of the larva. There are four of these per midgut. They first become apparent as evaginations at the anterior end of the fused midgut primordium during stage 16." []	194991	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic gastric caecum
FBbt:10005249	\N	\N	"the eyes begin in the embryo as a pair of shallow optic grooves on each side of the developing forebrain. The grooves form optic vesicles which invaginate to form a double-walled optic cup." []	FBbt:10005249	"the eyes begin in the embryo as a pair of shallow optic grooves on each side of the developing forebrain. The grooves form optic vesicles which invaginate to form a double-walled optic cup." []	71510	\N	\N	EFO	0	EFO	adult eye primordium	adult eye primordium
EFO:0000795	FBbt:10005249	\N	"Embryonic structure (body structure)" []	FBbt:10005249	"the eyes begin in the embryo as a pair of shallow optic grooves on each side of the developing forebrain. The grooves form optic vesicles which invaginate to form a double-walled optic cup." []	214064	\N	\N	EFO	1	EFO	animal developmental tissue	adult eye primordium
EFO:0000787	EFO:0000795	\N	"" []	FBbt:10005249	"the eyes begin in the embryo as a pair of shallow optic grooves on each side of the developing forebrain. The grooves form optic vesicles which invaginate to form a double-walled optic cup." []	567992	\N	\N	EFO	2	EFO	animal component	adult eye primordium
EFO:0000786	EFO:0000787	\N	"" []	FBbt:10005249	"the eyes begin in the embryo as a pair of shallow optic grooves on each side of the developing forebrain. The grooves form optic vesicles which invaginate to form a double-walled optic cup." []	1149483	\N	\N	EFO	3	EFO	anatomy basic component	adult eye primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FBbt:10005249	"the eyes begin in the embryo as a pair of shallow optic grooves on each side of the developing forebrain. The grooves form optic vesicles which invaginate to form a double-walled optic cup." []	2031708	\N	\N	EFO	4	EFO	organism part	adult eye primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FBbt:10005249	"the eyes begin in the embryo as a pair of shallow optic grooves on each side of the developing forebrain. The grooves form optic vesicles which invaginate to form a double-walled optic cup." []	3182276	\N	\N	EFO	5	EFO	material entity	adult eye primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBbt:10005249	"the eyes begin in the embryo as a pair of shallow optic grooves on each side of the developing forebrain. The grooves form optic vesicles which invaginate to form a double-walled optic cup." []	4390400	\N	\N	EFO	6	EFO	experimental factor	adult eye primordium
FBdv:00005331	\N	\N	"Temporal ordering number - 330. A collective term for stages 13-15." []	FBdv:00005331	"Temporal ordering number - 330. A collective term for stages 13-15." []	71511	\N	\N	EFO	0	EFO	dorsal closure stage	dorsal closure stage
EFO:0005859	FBdv:00005331	\N	"The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ]\\n" []	FBdv:00005331	"Temporal ordering number - 330. A collective term for stages 13-15." []	214065	\N	\N	EFO	1	EFO	Drosophila embryo stage	dorsal closure stage
EFO:0007725	EFO:0005859	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	FBdv:00005331	"Temporal ordering number - 330. A collective term for stages 13-15." []	567993	\N	\N	EFO	2	EFO	embryo stage	dorsal closure stage
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	FBdv:00005331	"Temporal ordering number - 330. A collective term for stages 13-15." []	1149484	\N	\N	EFO	3	EFO	developmental stage	dorsal closure stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	FBdv:00005331	"Temporal ordering number - 330. A collective term for stages 13-15." []	2031709	\N	\N	EFO	4	EFO	process	dorsal closure stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FBdv:00005331	"Temporal ordering number - 330. A collective term for stages 13-15." []	3182277	\N	\N	EFO	5	EFO	experimental factor	dorsal closure stage
FMA:24984	\N	\N	"" []	FMA:24984	"" []	71512	\N	\N	EFO	0	EFO	calf	calf
EFO:0000787	FMA:24984	\N	"" []	FMA:24984	"" []	214066	\N	\N	EFO	1	EFO	animal component	calf
EFO:0000786	EFO:0000787	\N	"" []	FMA:24984	"" []	567994	\N	\N	EFO	2	EFO	anatomy basic component	calf
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FMA:24984	"" []	1149485	\N	\N	EFO	3	EFO	organism part	calf
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FMA:24984	"" []	2031710	\N	\N	EFO	4	EFO	material entity	calf
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FMA:24984	"" []	3182278	\N	\N	EFO	5	EFO	experimental factor	calf
FMA:3804	\N	\N	"" []	FMA:3804	"" []	71513	\N	\N	EFO	0	EFO	proximal portion of right coronary artery	proximal portion of right coronary artery
UBERON:0001621	\N	\N	"An artery that supplies the myocardium." [Wikipedia:Coronary_circulation#Coronary_anatomy]	FMA:3804	"" []	194992	\N	efo_slim,uberon_slim	EFO	0	EFO	coronary artery	proximal portion of right coronary artery
FMA:3832	\N	\N	"" []	FMA:3832	"" []	71514	\N	\N	EFO	0	EFO	distal portion of right coronary artery	distal portion of right coronary artery
UBERON:0001621	\N	\N	"An artery that supplies the myocardium." [Wikipedia:Coronary_circulation#Coronary_anatomy]	FMA:3832	"" []	194993	\N	efo_slim,uberon_slim	EFO	0	EFO	coronary artery	distal portion of right coronary artery
FMA:3866	\N	\N	"" []	FMA:3866	"" []	71515	\N	\N	EFO	0	EFO	proximal portion of anterior interventricular branch of left coronary artery	proximal portion of anterior interventricular branch of left coronary artery
UBERON:0001621	\N	\N	"An artery that supplies the myocardium." [Wikipedia:Coronary_circulation#Coronary_anatomy]	FMA:3866	"" []	194994	\N	efo_slim,uberon_slim	EFO	0	EFO	coronary artery	proximal portion of anterior interventricular branch of left coronary artery
FMA:3884	\N	\N	"" []	FMA:3884	"" []	71516	\N	\N	EFO	0	EFO	distal portion of anterior interventricular branch of left coronary artery	distal portion of anterior interventricular branch of left coronary artery
UBERON:0001621	\N	\N	"An artery that supplies the myocardium." [Wikipedia:Coronary_circulation#Coronary_anatomy]	FMA:3884	"" []	194995	\N	efo_slim,uberon_slim	EFO	0	EFO	coronary artery	distal portion of anterior interventricular branch of left coronary artery
FMA:3897	\N	\N	"" []	FMA:3897	"" []	71517	\N	\N	EFO	0	EFO	proximal portion of circumflex branch of left coronary artery	proximal portion of circumflex branch of left coronary artery
UBERON:0001621	\N	\N	"An artery that supplies the myocardium." [Wikipedia:Coronary_circulation#Coronary_anatomy]	FMA:3897	"" []	194996	\N	efo_slim,uberon_slim	EFO	0	EFO	coronary artery	proximal portion of circumflex branch of left coronary artery
FMA:3906	\N	\N	"" []	FMA:3906	"" []	71518	\N	\N	EFO	0	EFO	distal portion of circumflex branch of left coronary artery	distal portion of circumflex branch of left coronary artery
UBERON:0001621	\N	\N	"An artery that supplies the myocardium." [Wikipedia:Coronary_circulation#Coronary_anatomy]	FMA:3906	"" []	194997	\N	efo_slim,uberon_slim	EFO	0	EFO	coronary artery	distal portion of circumflex branch of left coronary artery
FMA:6670	\N	\N	"" []	FMA:6670	"" []	71519	\N	\N	EFO	0	EFO	renal branch of vagus nerve	renal branch of vagus nerve
UBERON:0001759	\N	\N	"Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart)." [ISBN:0471209627, Wikipedia:Vagus_nerve]	FMA:6670	"" []	194998	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	vagus nerve	renal branch of vagus nerve
FMA:66762	\N	\N	"The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)" []	FMA:66762	"The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)" []	71520	\N	\N	EFO	0	EFO	synovial membrane	synovial membrane
EFO:0001958	FMA:66762	\N	"" []	FMA:66762	"The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)" []	214067	\N	\N	EFO	1	EFO	joint component	synovial membrane
EFO:0003858	EFO:0001958	\N	"" []	FMA:66762	"The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)" []	567995	\N	\N	EFO	2	EFO	skeleton structure	synovial membrane
EFO:0000787	EFO:0003858	\N	"" []	FMA:66762	"The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)" []	1149486	\N	\N	EFO	3	EFO	animal component	synovial membrane
EFO:0000786	EFO:0000787	\N	"" []	FMA:66762	"The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)" []	2031711	\N	\N	EFO	4	EFO	anatomy basic component	synovial membrane
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	FMA:66762	"The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)" []	3182279	\N	\N	EFO	5	EFO	organism part	synovial membrane
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	FMA:66762	"The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)" []	4390401	\N	\N	EFO	6	EFO	material entity	synovial membrane
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	FMA:66762	"The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)" []	5409751	\N	\N	EFO	7	EFO	experimental factor	synovial membrane
GO:0016023	\N	\N	"" []	GO:0016023	"" []	71521	\N	\N	EFO	0	EFO	cytoplasmic membrane-bounded vesicle	cytoplasmic membrane-bounded vesicle
GO:0031410	\N	\N	"A vesicle found in the cytoplasm of a cell." [GOC:ai, GOC:mah, GOC:vesicles]	GO:0016023	"" []	194999	\N	goslim_agr,goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_mouse,goslim_yeast,gosubset_prok	EFO	0	EFO	cytoplasmic vesicle	cytoplasmic membrane-bounded vesicle
GO:0043231	\N	\N	"Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane." [GOC:go_curators]	GO:0016023	"" []	195000	\N	goslim_pir,gosubset_prok	EFO	0	EFO	intracellular membrane-bounded organelle	cytoplasmic membrane-bounded vesicle
GO:0044700	\N	\N	"" []	GO:0044700	"" []	71523	\N	\N	EFO	0	EFO	single organism signaling	single organism signaling
GO:0023052	\N	\N	"The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered." [GOC:mtg_signal, GOC:mtg_signaling_feb11, GOC:signaling]	GO:0044700	"" []	195003	\N	goslim_agr,goslim_mouse,goslim_pombe,goslim_yeast	EFO	0	EFO	signaling	single organism signaling
GO:0044699	\N	\N	"\\nA biological process that involves only one organism.\\n" []	GO:0044700	"" []	195004	\N	\N	EFO	0	EFO	single-organism process	single organism signaling
GO:0044699	\N	\N	"\\nA biological process that involves only one organism.\\n" []	GO:0044700	"" []	195005	\N	\N	EFO	0	EFO	single-organism process	single organism signaling
GO:0044765	\N	\N	"" []	GO:0044765	"" []	71527	\N	\N	EFO	0	EFO	single-organism transport	single-organism transport
GO:0006810	\N	\N	"The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein." [GOC:dos, GOC:dph, GOC:jl, GOC:mah]	GO:0044765	"" []	195011	\N	gocheck_do_not_annotate,goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,gosubset_prok	EFO	0	EFO	transport	single-organism transport
GO:0006810	\N	\N	"The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein." [GOC:dos, GOC:dph, GOC:jl, GOC:mah]	GO:0044765	"" []	195012	\N	gocheck_do_not_annotate,goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,gosubset_prok	EFO	0	EFO	transport	single-organism transport
GO:0044699	\N	\N	"\\nA biological process that involves only one organism.\\n" []	GO:0044765	"" []	195013	\N	\N	EFO	0	EFO	single-organism process	single-organism transport
GO:1902578	\N	\N	"A localization which involves only one organism." [GO_REF:0000089, GOC:jl, PMID:1234]	GO:0044765	"" []	195014	\N	\N	EFO	0	EFO	single-organism localization	single-organism transport
HP:0011007	\N	\N	"The age group in which disease manifestations appear." []	HP:0011007	"The age group in which disease manifestations appear." []	71529	\N	\N	EFO	0	EFO	age of onset	age of onset
EFO:0004949	HP:0011007	\N	"A temporal measurement related to disease progression" []	HP:0011007	"The age group in which disease manifestations appear." []	214068	\N	\N	EFO	1	EFO	clinical temporal measurement	age of onset
EFO:0000719	EFO:0004949	\N	"A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times" []	HP:0011007	"The age group in which disease manifestations appear." []	567996	\N	\N	EFO	2	EFO	temporal measurement	age of onset
EFO:0001444	EFO:0000719	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	HP:0011007	"The age group in which disease manifestations appear." []	1149487	\N	\N	EFO	3	EFO	measurement	age of onset
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	HP:0011007	"The age group in which disease manifestations appear." []	2031712	\N	\N	EFO	4	EFO	information entity	age of onset
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	HP:0011007	"The age group in which disease manifestations appear." []	3182280	\N	\N	EFO	5	EFO	experimental factor	age of onset
IAO:0000009	\N	\N	"A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label." []	IAO:0000009	"A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label." []	71530	\N	\N	EFO	0	EFO	label	label
IAO:0000030	IAO:0000009	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	IAO:0000009	"A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label." []	214069	\N	\N	EFO	1	EFO	information entity	label
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	IAO:0000009	"A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label." []	567997	\N	\N	EFO	2	EFO	experimental factor	label
IAO:0000027	\N	\N	"Data is an information entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements." []	IAO:0000027	"Data is an information entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements." []	71531	\N	\N	EFO	0	EFO	data item	data item
IAO:0000030	IAO:0000027	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	IAO:0000027	"Data is an information entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements." []	214070	\N	\N	EFO	1	EFO	information entity	data item
IAO:0000030	IAO:0000027	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	IAO:0000027	"Data is an information entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements." []	214071	\N	\N	EFO	1	EFO	information entity	data item
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	IAO:0000027	"Data is an information entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements." []	567998	\N	\N	EFO	2	EFO	experimental factor	data item
IAO:0000030	\N	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	IAO:0000030	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	71532	\N	\N	EFO	0	EFO	information entity	information entity
BFO:0000005	\N	\N	"" []	IAO:0000030	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	195017	\N	\N	EFO	0	EFO	generically dependent continuant	information entity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	IAO:0000030	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	214072	\N	\N	EFO	1	EFO	experimental factor	information entity
IAO:0000098	\N	\N	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	IAO:0000098	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	71533	\N	\N	EFO	0	EFO	data format specification	data format specification
IAO:0000030	IAO:0000098	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	IAO:0000098	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	214073	\N	\N	EFO	1	EFO	information entity	data format specification
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	IAO:0000098	"A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file" []	567999	\N	\N	EFO	2	EFO	experimental factor	data format specification
IAO:0000100	\N	\N	"A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit." []	IAO:0000100	"A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit." []	71534	\N	\N	EFO	0	EFO	data set	data set
IAO:0000030	IAO:0000100	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	IAO:0000100	"A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit." []	214074	\N	\N	EFO	1	EFO	information entity	data set
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	IAO:0000100	"A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit." []	568000	\N	\N	EFO	2	EFO	experimental factor	data set
IAO:0000101	\N	\N	"An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface." []	IAO:0000101	"An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface." []	71535	\N	\N	EFO	0	EFO	image	image
IAO:0000030	IAO:0000101	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	IAO:0000101	"An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface." []	214075	\N	\N	EFO	1	EFO	information entity	image
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	IAO:0000101	"An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface." []	568001	\N	\N	EFO	2	EFO	experimental factor	image
IDO:0000450	\N	\N	"The ability of a pathogen to produce an infectious disease or disorder in an organism." []	IDO:0000450	"The ability of a pathogen to produce an infectious disease or disorder in an organism." []	71536	\N	\N	EFO	0	EFO	pathogenicity	pathogenicity
BFO:0000016	IDO:0000450	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	IDO:0000450	"The ability of a pathogen to produce an infectious disease or disorder in an organism." []	214076	\N	\N	EFO	1	EFO	disposition	pathogenicity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	IDO:0000450	"The ability of a pathogen to produce an infectious disease or disorder in an organism." []	568002	\N	\N	EFO	2	EFO	material property	pathogenicity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	IDO:0000450	"The ability of a pathogen to produce an infectious disease or disorder in an organism." []	1149488	\N	\N	EFO	3	EFO	experimental factor	pathogenicity
MA:0000191	\N	\N	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum." []	MA:0000191	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum." []	71537	\N	\N	EFO	0	EFO	hippocampus	hippocampus
UBERON:0000955	\N	\N	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	MA:0000191	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum." []	195018	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	EFO	0	EFO	brain	hippocampus
MA:0002714	\N	\N	"The generic name for hand, paw, foot etc" []	MA:0002714	"The generic name for hand, paw, foot etc" []	71538	\N	\N	EFO	0	EFO	autopod	autopod
UBERON:0002101	\N	\N	"A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts." [UBERONREF:0000003]	MA:0002714	"The generic name for hand, paw, foot etc" []	195019	\N	efo_slim,uberon_slim	EFO	0	EFO	limb	autopod
MP:0001845	\N	\N	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	MP:0001845	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	71539	\N	\N	EFO	0	EFO	inflammation	inflammation
HP:0002715	\N	\N	"An abnormality of the immune system." [HPO:probinson]	MP:0001845	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	195020	\N	\N	EFO	0	EFO	Abnormality of the immune system	inflammation
MP:0001790	\N	\N	"deviation from the normal function of the immune system" [MGI:cwg]	MP:0001845	"Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues." []	195021	\N	\N	EFO	0	EFO	abnormal immune system physiology	inflammation
MP:0001914	\N	\N	"Loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels." []	MP:0001914	"Loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels." []	71540	\N	\N	EFO	0	EFO	hemorrhage	hemorrhage
HP:0001871	\N	\N	"An abnormality of the hematopoietic system." [HPO:probinson]	MP:0001914	"Loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels." []	195022	\N	\N	EFO	0	EFO	Abnormality of blood and blood-forming tissues	hemorrhage
MP:0002128	\N	\N	"failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart" [MGI:csmith]	MP:0001914	"Loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels." []	195023	\N	\N	EFO	0	EFO	abnormal blood circulation	hemorrhage
NCBITaxon:10088	\N	\N	"Mus (commonly mice) is a small mammal belonging to the order of rodents." []	NCBITaxon:10088	"Mus (commonly mice) is a small mammal belonging to the order of rodents." []	71548	\N	\N	EFO	0	EFO	Mus	Mus
NCBITaxon:2759	NCBITaxon:10088	\N	"" []	NCBITaxon:10088	"Mus (commonly mice) is a small mammal belonging to the order of rodents." []	214077	\N	\N	EFO	1	EFO	Eukaryota	Mus
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:10088	"Mus (commonly mice) is a small mammal belonging to the order of rodents." []	568003	\N	\N	EFO	2	EFO	organism	Mus
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:10088	"Mus (commonly mice) is a small mammal belonging to the order of rodents." []	1149489	\N	\N	EFO	3	EFO	material entity	Mus
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:10088	"Mus (commonly mice) is a small mammal belonging to the order of rodents." []	2031713	\N	\N	EFO	4	EFO	experimental factor	Mus
NCBITaxon:10114	\N	\N	"" []	NCBITaxon:10114	"" []	71555	\N	\N	EFO	0	EFO	Rattus	Rattus
NCBITaxon:2759	NCBITaxon:10114	\N	"" []	NCBITaxon:10114	"" []	214078	\N	\N	EFO	1	EFO	Eukaryota	Rattus
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:10114	"" []	568004	\N	\N	EFO	2	EFO	organism	Rattus
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:10114	"" []	1149490	\N	\N	EFO	3	EFO	material entity	Rattus
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:10114	"" []	2031714	\N	\N	EFO	4	EFO	experimental factor	Rattus
NCBITaxon:11103	\N	\N	"" []	NCBITaxon:11103	"" []	71604	\N	\N	EFO	0	EFO	Hepatitis C virus	Hepatitis C virus
NCBITaxon:10239	\N	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11103	"" []	195052	\N	\N	EFO	0	EFO	Virus	Hepatitis C virus
NCBITaxon:112509	\N	\N	"" []	NCBITaxon:112509	"" []	71607	\N	\N	EFO	0	EFO	Hordeum vulgare subsp. vulgare	Hordeum vulgare subsp. vulgare
NCBITaxon:33090	NCBITaxon:112509	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:112509	"" []	214079	\N	\N	EFO	1	EFO	Viridiplantae	Hordeum vulgare subsp. vulgare
NCBITaxon:2759	NCBITaxon:33090	\N	"" []	NCBITaxon:112509	"" []	568005	\N	\N	EFO	2	EFO	Eukaryota	Hordeum vulgare subsp. vulgare
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:112509	"" []	1149491	\N	\N	EFO	3	EFO	organism	Hordeum vulgare subsp. vulgare
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:112509	"" []	2031715	\N	\N	EFO	4	EFO	material entity	Hordeum vulgare subsp. vulgare
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:112509	"" []	3182281	\N	\N	EFO	5	EFO	experimental factor	Hordeum vulgare subsp. vulgare
NCBITaxon:12721	\N	\N	"" []	NCBITaxon:12721	"" []	71676	\N	\N	EFO	0	EFO	Human immunodeficiency virus	Human immunodeficiency virus
NCBITaxon:10239	\N	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12721	"" []	195067	\N	\N	EFO	0	EFO	Virus	Human immunodeficiency virus
NCBITaxon:1290391	\N	\N	"BcDW1 is a Botrytis cinerea isolate recovered in 1992 from grape berries (Vitis vinifera cv. Smillon) in Napa, California and used as source of inoculum to induce noble rot in the production of Dolce Wine (Oakville, CA)." []	NCBITaxon:1290391	"BcDW1 is a Botrytis cinerea isolate recovered in 1992 from grape berries (Vitis vinifera cv. Smillon) in Napa, California and used as source of inoculum to induce noble rot in the production of Dolce Wine (Oakville, CA)." []	71683	\N	\N	EFO	0	EFO	Botrytis cinerea BcDW1 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Botrytis cinerea BcDW1 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:40559	NCBITaxon:1290391	\N	"Botrytis cinerea (teleomorph, Botryotinia fuckeliana) is an airborne plant pathogen with a necrotrophic lifestyle attacking over 200 crop hosts worldwide." []	NCBITaxon:1290391	"BcDW1 is a Botrytis cinerea isolate recovered in 1992 from grape berries (Vitis vinifera cv. Smillon) in Napa, California and used as source of inoculum to induce noble rot in the production of Dolce Wine (Oakville, CA)." []	214080	\N	\N	EFO	1	EFO	Botrytis cinerea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Botrytis cinerea BcDW1 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4890	NCBITaxon:40559	\N	"Strain or line specific to yeast" []	NCBITaxon:1290391	"BcDW1 is a Botrytis cinerea isolate recovered in 1992 from grape berries (Vitis vinifera cv. Smillon) in Napa, California and used as source of inoculum to induce noble rot in the production of Dolce Wine (Oakville, CA)." []	568006	\N	\N	EFO	2	EFO	Ascomycota	Botrytis cinerea BcDW1 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:4890	\N	"" []	NCBITaxon:1290391	"BcDW1 is a Botrytis cinerea isolate recovered in 1992 from grape berries (Vitis vinifera cv. Smillon) in Napa, California and used as source of inoculum to induce noble rot in the production of Dolce Wine (Oakville, CA)." []	1149492	\N	\N	EFO	3	EFO	Eukaryota	Botrytis cinerea BcDW1 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:1290391	"BcDW1 is a Botrytis cinerea isolate recovered in 1992 from grape berries (Vitis vinifera cv. Smillon) in Napa, California and used as source of inoculum to induce noble rot in the production of Dolce Wine (Oakville, CA)." []	2031716	\N	\N	EFO	4	EFO	organism	Botrytis cinerea BcDW1 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:1290391	"BcDW1 is a Botrytis cinerea isolate recovered in 1992 from grape berries (Vitis vinifera cv. Smillon) in Napa, California and used as source of inoculum to induce noble rot in the production of Dolce Wine (Oakville, CA)." []	3182282	\N	\N	EFO	5	EFO	material entity	Botrytis cinerea BcDW1 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:1290391	"BcDW1 is a Botrytis cinerea isolate recovered in 1992 from grape berries (Vitis vinifera cv. Smillon) in Napa, California and used as source of inoculum to induce noble rot in the production of Dolce Wine (Oakville, CA)." []	4390402	\N	\N	EFO	6	EFO	experimental factor	Botrytis cinerea BcDW1 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:1292002	\N	\N	"Echinochloa glabrescens is a C4 grass weed that is very competitive with rice when left uncontrolled." []	NCBITaxon:1292002	"Echinochloa glabrescens is a C4 grass weed that is very competitive with rice when left uncontrolled." []	71685	\N	\N	EFO	0	EFO	Echinochloa glabrescens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Echinochloa glabrescens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33090	NCBITaxon:1292002	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:1292002	"Echinochloa glabrescens is a C4 grass weed that is very competitive with rice when left uncontrolled." []	214081	\N	\N	EFO	1	EFO	Viridiplantae	Echinochloa glabrescens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33090	\N	"" []	NCBITaxon:1292002	"Echinochloa glabrescens is a C4 grass weed that is very competitive with rice when left uncontrolled." []	568007	\N	\N	EFO	2	EFO	Eukaryota	Echinochloa glabrescens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:1292002	"Echinochloa glabrescens is a C4 grass weed that is very competitive with rice when left uncontrolled." []	1149493	\N	\N	EFO	3	EFO	organism	Echinochloa glabrescens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:1292002	"Echinochloa glabrescens is a C4 grass weed that is very competitive with rice when left uncontrolled." []	2031717	\N	\N	EFO	4	EFO	material entity	Echinochloa glabrescens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:1292002	"Echinochloa glabrescens is a C4 grass weed that is very competitive with rice when left uncontrolled." []	3182283	\N	\N	EFO	5	EFO	experimental factor	Echinochloa glabrescens {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:129394	\N	\N	"Xanthomonas oryzae pv. oryzae is a bacterium which causes a serious blight of rice, other grasses and sedges." []	NCBITaxon:129394	"Xanthomonas oryzae pv. oryzae is a bacterium which causes a serious blight of rice, other grasses and sedges." []	71687	\N	\N	EFO	0	EFO	Xanthomonas oryzae pv. oryzicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Xanthomonas oryzae pv. oryzicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:338	NCBITaxon:129394	\N	"Xanthomonas is a genus of Proteobacteria, many of which cause plant diseases." []	NCBITaxon:129394	"Xanthomonas oryzae pv. oryzae is a bacterium which causes a serious blight of rice, other grasses and sedges." []	214082	\N	\N	EFO	1	EFO	Xanthomonas {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Xanthomonas oryzae pv. oryzicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:1324865	\N	\N	"Brassica carinata x Brassica rapa is a synthesised trigenomic allohexaploid (AABBCC genome) that could be produced by crossing Brassica carinata (BBCC, 2n = 34) with Brassica rapa (AA, 2n = 20) and followed genome doubling." []	NCBITaxon:1324865	"Brassica carinata x Brassica rapa is a synthesised trigenomic allohexaploid (AABBCC genome) that could be produced by crossing Brassica carinata (BBCC, 2n = 34) with Brassica rapa (AA, 2n = 20) and followed genome doubling." []	71703	\N	\N	EFO	0	EFO	Brassica carinata x Brassica rapa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Brassica carinata x Brassica rapa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33090	NCBITaxon:1324865	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:1324865	"Brassica carinata x Brassica rapa is a synthesised trigenomic allohexaploid (AABBCC genome) that could be produced by crossing Brassica carinata (BBCC, 2n = 34) with Brassica rapa (AA, 2n = 20) and followed genome doubling." []	214083	\N	\N	EFO	1	EFO	Viridiplantae	Brassica carinata x Brassica rapa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33090	\N	"" []	NCBITaxon:1324865	"Brassica carinata x Brassica rapa is a synthesised trigenomic allohexaploid (AABBCC genome) that could be produced by crossing Brassica carinata (BBCC, 2n = 34) with Brassica rapa (AA, 2n = 20) and followed genome doubling." []	568008	\N	\N	EFO	2	EFO	Eukaryota	Brassica carinata x Brassica rapa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:1324865	"Brassica carinata x Brassica rapa is a synthesised trigenomic allohexaploid (AABBCC genome) that could be produced by crossing Brassica carinata (BBCC, 2n = 34) with Brassica rapa (AA, 2n = 20) and followed genome doubling." []	1149494	\N	\N	EFO	3	EFO	organism	Brassica carinata x Brassica rapa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:1324865	"Brassica carinata x Brassica rapa is a synthesised trigenomic allohexaploid (AABBCC genome) that could be produced by crossing Brassica carinata (BBCC, 2n = 34) with Brassica rapa (AA, 2n = 20) and followed genome doubling." []	2031718	\N	\N	EFO	4	EFO	material entity	Brassica carinata x Brassica rapa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:1324865	"Brassica carinata x Brassica rapa is a synthesised trigenomic allohexaploid (AABBCC genome) that could be produced by crossing Brassica carinata (BBCC, 2n = 34) with Brassica rapa (AA, 2n = 20) and followed genome doubling." []	3182284	\N	\N	EFO	5	EFO	experimental factor	Brassica carinata x Brassica rapa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:13894	\N	\N	"" []	NCBITaxon:13894	"" []	71728	\N	\N	EFO	0	EFO	Cocos nucifera	Cocos nucifera
NCBITaxon:2759	NCBITaxon:13894	\N	"" []	NCBITaxon:13894	"" []	214084	\N	\N	EFO	1	EFO	Eukaryota	Cocos nucifera
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:13894	"" []	568009	\N	\N	EFO	2	EFO	organism	Cocos nucifera
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:13894	"" []	1149495	\N	\N	EFO	3	EFO	material entity	Cocos nucifera
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:13894	"" []	2031719	\N	\N	EFO	4	EFO	experimental factor	Cocos nucifera
NCBITaxon:141969	\N	\N	"" []	NCBITaxon:141969	"" []	71737	\N	\N	EFO	0	EFO	Oscheius tipulae	Oscheius tipulae
NCBITaxon:55887	NCBITaxon:141969	\N	"" []	NCBITaxon:141969	"" []	214085	\N	\N	EFO	1	EFO	Rhabditinae	Oscheius tipulae
NCBITaxon:2759	NCBITaxon:55887	\N	"" []	NCBITaxon:141969	"" []	568010	\N	\N	EFO	2	EFO	Eukaryota	Oscheius tipulae
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:141969	"" []	1149496	\N	\N	EFO	3	EFO	organism	Oscheius tipulae
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:141969	"" []	2031720	\N	\N	EFO	4	EFO	material entity	Oscheius tipulae
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:141969	"" []	3182285	\N	\N	EFO	5	EFO	experimental factor	Oscheius tipulae
NCBITaxon:143451	\N	\N	"Plasmopara viticola, the causal agent of grapevine downy mildew, is a heterothallic oomycete that overwinters as oospores in leaf litter and soil." []	NCBITaxon:143451	"Plasmopara viticola, the causal agent of grapevine downy mildew, is a heterothallic oomycete that overwinters as oospores in leaf litter and soil." []	71740	\N	\N	EFO	0	EFO	Plasmopara viticola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Plasmopara viticola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4762	NCBITaxon:143451	\N	"Oomycetes form a diverse group of fungus-like eukaryotic microorganisms, also known as water molds, that include both saprophytes and pathogens of plants, insects, crustaceans, fish, vertebrate animals, and various microorganisms." []	NCBITaxon:143451	"Plasmopara viticola, the causal agent of grapevine downy mildew, is a heterothallic oomycete that overwinters as oospores in leaf litter and soil." []	214086	\N	\N	EFO	1	EFO	Oomycetes {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Plasmopara viticola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33634	NCBITaxon:4762	\N	"The stramenopiles (Heterokonta) are one of the phylogenetic groups of eukaryotes and include organisms as diverse as unicellular and multicellular algae, fungus-like cells, and parasitic and free-living flagellates." []	NCBITaxon:143451	"Plasmopara viticola, the causal agent of grapevine downy mildew, is a heterothallic oomycete that overwinters as oospores in leaf litter and soil." []	568011	\N	\N	EFO	2	EFO	Stramenopiles {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Plasmopara viticola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33634	\N	"" []	NCBITaxon:143451	"Plasmopara viticola, the causal agent of grapevine downy mildew, is a heterothallic oomycete that overwinters as oospores in leaf litter and soil." []	1149497	\N	\N	EFO	3	EFO	Eukaryota	Plasmopara viticola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:143451	"Plasmopara viticola, the causal agent of grapevine downy mildew, is a heterothallic oomycete that overwinters as oospores in leaf litter and soil." []	2031721	\N	\N	EFO	4	EFO	organism	Plasmopara viticola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:143451	"Plasmopara viticola, the causal agent of grapevine downy mildew, is a heterothallic oomycete that overwinters as oospores in leaf litter and soil." []	3182286	\N	\N	EFO	5	EFO	material entity	Plasmopara viticola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:143451	"Plasmopara viticola, the causal agent of grapevine downy mildew, is a heterothallic oomycete that overwinters as oospores in leaf litter and soil." []	4390403	\N	\N	EFO	6	EFO	experimental factor	Plasmopara viticola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:1480153	\N	\N	"Marchantia polymorpha subsp. polymorpha is one of the three subspecies of Marchantia polymorpha." []	NCBITaxon:1480153	"Marchantia polymorpha subsp. polymorpha is one of the three subspecies of Marchantia polymorpha." []	71746	\N	\N	EFO	0	EFO	Marchantia polymorpha subsp. polymorpha {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Marchantia polymorpha subsp. polymorpha {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33090	NCBITaxon:1480153	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:1480153	"Marchantia polymorpha subsp. polymorpha is one of the three subspecies of Marchantia polymorpha." []	214087	\N	\N	EFO	1	EFO	Viridiplantae	Marchantia polymorpha subsp. polymorpha {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33090	\N	"" []	NCBITaxon:1480153	"Marchantia polymorpha subsp. polymorpha is one of the three subspecies of Marchantia polymorpha." []	568012	\N	\N	EFO	2	EFO	Eukaryota	Marchantia polymorpha subsp. polymorpha {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:1480153	"Marchantia polymorpha subsp. polymorpha is one of the three subspecies of Marchantia polymorpha." []	1149498	\N	\N	EFO	3	EFO	organism	Marchantia polymorpha subsp. polymorpha {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:1480153	"Marchantia polymorpha subsp. polymorpha is one of the three subspecies of Marchantia polymorpha." []	2031722	\N	\N	EFO	4	EFO	material entity	Marchantia polymorpha subsp. polymorpha {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:1480153	"Marchantia polymorpha subsp. polymorpha is one of the three subspecies of Marchantia polymorpha." []	3182287	\N	\N	EFO	5	EFO	experimental factor	Marchantia polymorpha subsp. polymorpha {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:152263	\N	\N	"Xanthomonas translucens pv. cerealis is the causal agent of bacterial leaf streak on true grasses. Xanthomonas translucens pv. cerealis has been found on crops, like wheat (Triticum spp.), barley (Hordeum spp.), and rye (Secale cereale), and it also naturally occurs on smooth bromegrass and quack grass." []	NCBITaxon:152263	"Xanthomonas translucens pv. cerealis is the causal agent of bacterial leaf streak on true grasses. Xanthomonas translucens pv. cerealis has been found on crops, like wheat (Triticum spp.), barley (Hordeum spp.), and rye (Secale cereale), and it also naturally occurs on smooth bromegrass and quack grass." []	71757	\N	\N	EFO	0	EFO	Xanthomonas translucens pv. cerealis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Xanthomonas translucens pv. cerealis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:338	NCBITaxon:152263	\N	"Xanthomonas is a genus of Proteobacteria, many of which cause plant diseases." []	NCBITaxon:152263	"Xanthomonas translucens pv. cerealis is the causal agent of bacterial leaf streak on true grasses. Xanthomonas translucens pv. cerealis has been found on crops, like wheat (Triticum spp.), barley (Hordeum spp.), and rye (Secale cereale), and it also naturally occurs on smooth bromegrass and quack grass." []	214088	\N	\N	EFO	1	EFO	Xanthomonas {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Xanthomonas translucens pv. cerealis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:168172	\N	\N	"Puccinia striiformis f. sp. tritici is the causal agent of stripe (yellow) rust, a serious disease of wheat occurring in most wheat areas with cool and moist weather conditions during the growing season." []	NCBITaxon:168172	"Puccinia striiformis f. sp. tritici is the causal agent of stripe (yellow) rust, a serious disease of wheat occurring in most wheat areas with cool and moist weather conditions during the growing season." []	71816	\N	\N	EFO	0	EFO	Puccinia striiformis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Puccinia striiformis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4751	NCBITaxon:168172	\N	"Fungi are eukaryotic organisms that belong to their own kingdom, separate from the other eukaryotic life kingdoms of plants and animals. It includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms." []	NCBITaxon:168172	"Puccinia striiformis f. sp. tritici is the causal agent of stripe (yellow) rust, a serious disease of wheat occurring in most wheat areas with cool and moist weather conditions during the growing season." []	214089	\N	\N	EFO	1	EFO	Fungi {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Puccinia striiformis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33154	NCBITaxon:4751	\N	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	NCBITaxon:168172	"Puccinia striiformis f. sp. tritici is the causal agent of stripe (yellow) rust, a serious disease of wheat occurring in most wheat areas with cool and moist weather conditions during the growing season." []	568013	\N	\N	EFO	2	EFO	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Puccinia striiformis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33154	\N	"" []	NCBITaxon:168172	"Puccinia striiformis f. sp. tritici is the causal agent of stripe (yellow) rust, a serious disease of wheat occurring in most wheat areas with cool and moist weather conditions during the growing season." []	1149499	\N	\N	EFO	3	EFO	Eukaryota	Puccinia striiformis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:168172	"Puccinia striiformis f. sp. tritici is the causal agent of stripe (yellow) rust, a serious disease of wheat occurring in most wheat areas with cool and moist weather conditions during the growing season." []	2031723	\N	\N	EFO	4	EFO	organism	Puccinia striiformis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:168172	"Puccinia striiformis f. sp. tritici is the causal agent of stripe (yellow) rust, a serious disease of wheat occurring in most wheat areas with cool and moist weather conditions during the growing season." []	3182288	\N	\N	EFO	5	EFO	material entity	Puccinia striiformis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:168172	"Puccinia striiformis f. sp. tritici is the causal agent of stripe (yellow) rust, a serious disease of wheat occurring in most wheat areas with cool and moist weather conditions during the growing season." []	4390404	\N	\N	EFO	6	EFO	experimental factor	Puccinia striiformis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:189291	\N	\N	"Meloidogyne graminicola is the most common root-knot  nematodes species infecting  rice." []	NCBITaxon:189291	"Meloidogyne graminicola is the most common root-knot  nematodes species infecting  rice." []	71860	\N	\N	EFO	0	EFO	Meloidogyne graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Meloidogyne graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007337	NCBITaxon:189291	\N	"The phylum Nematoda (roundworms) is one of the most common phyla of animals, estimated to contain over a million species. Over 20,000 nematode species have been described, most of them are free-living but many are successful parasites of humans, animals, and plants, causing diseases of major socio-economic importance globally." []	NCBITaxon:189291	"Meloidogyne graminicola is the most common root-knot  nematodes species infecting  rice." []	214090	\N	\N	EFO	1	EFO	Nematoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Meloidogyne graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33208	EO:0007337	\N	"Metazoa or animals are multicellular, eukaryotic organisms" []	NCBITaxon:189291	"Meloidogyne graminicola is the most common root-knot  nematodes species infecting  rice." []	568014	\N	\N	EFO	2	EFO	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Meloidogyne graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33154	NCBITaxon:33208	\N	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	NCBITaxon:189291	"Meloidogyne graminicola is the most common root-knot  nematodes species infecting  rice." []	1149500	\N	\N	EFO	3	EFO	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Meloidogyne graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33154	\N	"" []	NCBITaxon:189291	"Meloidogyne graminicola is the most common root-knot  nematodes species infecting  rice." []	2031724	\N	\N	EFO	4	EFO	Eukaryota	Meloidogyne graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:189291	"Meloidogyne graminicola is the most common root-knot  nematodes species infecting  rice." []	3182289	\N	\N	EFO	5	EFO	organism	Meloidogyne graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:189291	"Meloidogyne graminicola is the most common root-knot  nematodes species infecting  rice." []	4390405	\N	\N	EFO	6	EFO	material entity	Meloidogyne graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:189291	"Meloidogyne graminicola is the most common root-knot  nematodes species infecting  rice." []	5409752	\N	\N	EFO	7	EFO	experimental factor	Meloidogyne graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:199200	\N	\N	"Pseudomonas syringae pv. japonica, which attacks barley, is one othe patovars of P. syringae." []	NCBITaxon:199200	"Pseudomonas syringae pv. japonica, which attacks barley, is one othe patovars of P. syringae." []	71895	\N	\N	EFO	0	EFO	Pseudomonas syringae pv. japonica {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Pseudomonas syringae pv. japonica {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:286	NCBITaxon:199200	\N	"Pseudomonas is a genus of Gram-negative, aerobic gammaproteobacteria, belonging to the family Pseudomonadaceae containing 191 validly described species." []	NCBITaxon:199200	"Pseudomonas syringae pv. japonica, which attacks barley, is one othe patovars of P. syringae." []	214091	\N	\N	EFO	1	EFO	Pseudomonas {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Pseudomonas syringae pv. japonica {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:200361	\N	\N	"Aegilops tauschii subsp. strangulata is one of the two subspecies of Aegilops tauschii." []	NCBITaxon:200361	"Aegilops tauschii subsp. strangulata is one of the two subspecies of Aegilops tauschii." []	71899	\N	\N	EFO	0	EFO	Aegilops tauschii subsp. strangulata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Aegilops tauschii subsp. strangulata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33090	NCBITaxon:200361	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:200361	"Aegilops tauschii subsp. strangulata is one of the two subspecies of Aegilops tauschii." []	214092	\N	\N	EFO	1	EFO	Viridiplantae	Aegilops tauschii subsp. strangulata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33090	\N	"" []	NCBITaxon:200361	"Aegilops tauschii subsp. strangulata is one of the two subspecies of Aegilops tauschii." []	568015	\N	\N	EFO	2	EFO	Eukaryota	Aegilops tauschii subsp. strangulata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:200361	"Aegilops tauschii subsp. strangulata is one of the two subspecies of Aegilops tauschii." []	1149501	\N	\N	EFO	3	EFO	organism	Aegilops tauschii subsp. strangulata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:200361	"Aegilops tauschii subsp. strangulata is one of the two subspecies of Aegilops tauschii." []	2031725	\N	\N	EFO	4	EFO	material entity	Aegilops tauschii subsp. strangulata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:200361	"Aegilops tauschii subsp. strangulata is one of the two subspecies of Aegilops tauschii." []	3182290	\N	\N	EFO	5	EFO	experimental factor	Aegilops tauschii subsp. strangulata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:2759	"" []	72032	\N	\N	EFO	0	EFO	Eukaryota	Eukaryota
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:2759	"" []	214093	\N	\N	EFO	1	EFO	organism	Eukaryota
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:2759	"" []	568016	\N	\N	EFO	2	EFO	material entity	Eukaryota
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:2759	"" []	1149502	\N	\N	EFO	3	EFO	experimental factor	Eukaryota
NCBITaxon:281680	\N	\N	"" []	NCBITaxon:281680	"" []	72047	\N	\N	EFO	0	EFO	Oscheius myriophila	Oscheius myriophila
NCBITaxon:55887	NCBITaxon:281680	\N	"" []	NCBITaxon:281680	"" []	214094	\N	\N	EFO	1	EFO	Rhabditinae	Oscheius myriophila
NCBITaxon:2759	NCBITaxon:55887	\N	"" []	NCBITaxon:281680	"" []	568017	\N	\N	EFO	2	EFO	Eukaryota	Oscheius myriophila
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:281680	"" []	1149503	\N	\N	EFO	3	EFO	organism	Oscheius myriophila
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:281680	"" []	2031726	\N	\N	EFO	4	EFO	material entity	Oscheius myriophila
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:281680	"" []	3182291	\N	\N	EFO	5	EFO	experimental factor	Oscheius myriophila
NCBITaxon:286	\N	\N	"Pseudomonas is a genus of Gram-negative, aerobic gammaproteobacteria, belonging to the family Pseudomonadaceae containing 191 validly described species." []	NCBITaxon:286	"Pseudomonas is a genus of Gram-negative, aerobic gammaproteobacteria, belonging to the family Pseudomonadaceae containing 191 validly described species." []	72061	\N	\N	EFO	0	EFO	Pseudomonas {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Pseudomonas {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2	\N	\N	"" []	NCBITaxon:286	"Pseudomonas is a genus of Gram-negative, aerobic gammaproteobacteria, belonging to the family Pseudomonadaceae containing 191 validly described species." []	195168	\N	\N	EFO	0	EFO	Bacteria	Pseudomonas {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:310453	\N	\N	"Neofusicoccum parvum is a vascular pathogen that causes severe decline and dieback symptoms in grapevines worldwide." []	NCBITaxon:310453	"Neofusicoccum parvum is a vascular pathogen that causes severe decline and dieback symptoms in grapevines worldwide." []	72123	\N	\N	EFO	0	EFO	Neofusicoccum parvum {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Neofusicoccum parvum {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4890	NCBITaxon:310453	\N	"Strain or line specific to yeast" []	NCBITaxon:310453	"Neofusicoccum parvum is a vascular pathogen that causes severe decline and dieback symptoms in grapevines worldwide." []	214095	\N	\N	EFO	1	EFO	Ascomycota	Neofusicoccum parvum {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:4890	\N	"" []	NCBITaxon:310453	"Neofusicoccum parvum is a vascular pathogen that causes severe decline and dieback symptoms in grapevines worldwide." []	568018	\N	\N	EFO	2	EFO	Eukaryota	Neofusicoccum parvum {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:310453	"Neofusicoccum parvum is a vascular pathogen that causes severe decline and dieback symptoms in grapevines worldwide." []	1149504	\N	\N	EFO	3	EFO	organism	Neofusicoccum parvum {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:310453	"Neofusicoccum parvum is a vascular pathogen that causes severe decline and dieback symptoms in grapevines worldwide." []	2031727	\N	\N	EFO	4	EFO	material entity	Neofusicoccum parvum {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:310453	"Neofusicoccum parvum is a vascular pathogen that causes severe decline and dieback symptoms in grapevines worldwide." []	3182292	\N	\N	EFO	5	EFO	experimental factor	Neofusicoccum parvum {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:31741	\N	\N	"Wheat streak mosaic virus (WSMV) is a plant pathogenic virus of the family Potyviridae that infects plants in the Poaceae family, especially wheat (Triticum spp.); it is globally distributed and vectored by the wheat curl mite, particularly in regions where wheat is widely grown." []	NCBITaxon:31741	"Wheat streak mosaic virus (WSMV) is a plant pathogenic virus of the family Potyviridae that infects plants in the Poaceae family, especially wheat (Triticum spp.); it is globally distributed and vectored by the wheat curl mite, particularly in regions where wheat is widely grown." []	72132	\N	\N	EFO	0	EFO	Wheat streak mosaic virus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Wheat streak mosaic virus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:10239	\N	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:31741	"Wheat streak mosaic virus (WSMV) is a plant pathogenic virus of the family Potyviridae that infects plants in the Poaceae family, especially wheat (Triticum spp.); it is globally distributed and vectored by the wheat curl mite, particularly in regions where wheat is widely grown." []	195206	\N	\N	EFO	0	EFO	Virus	Wheat streak mosaic virus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:31870	\N	\N	"Colletotrichum graminicola (teleomorph Glomerella graminicola) is a filamentous ascomycete that causes anthracnose disease of maize." []	NCBITaxon:31870	"Colletotrichum graminicola (teleomorph Glomerella graminicola) is a filamentous ascomycete that causes anthracnose disease of maize." []	72133	\N	\N	EFO	0	EFO	Colletotrichum graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Colletotrichum graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4890	NCBITaxon:31870	\N	"Strain or line specific to yeast" []	NCBITaxon:31870	"Colletotrichum graminicola (teleomorph Glomerella graminicola) is a filamentous ascomycete that causes anthracnose disease of maize." []	214096	\N	\N	EFO	1	EFO	Ascomycota	Colletotrichum graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:4890	\N	"" []	NCBITaxon:31870	"Colletotrichum graminicola (teleomorph Glomerella graminicola) is a filamentous ascomycete that causes anthracnose disease of maize." []	568019	\N	\N	EFO	2	EFO	Eukaryota	Colletotrichum graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:31870	"Colletotrichum graminicola (teleomorph Glomerella graminicola) is a filamentous ascomycete that causes anthracnose disease of maize." []	1149505	\N	\N	EFO	3	EFO	organism	Colletotrichum graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:31870	"Colletotrichum graminicola (teleomorph Glomerella graminicola) is a filamentous ascomycete that causes anthracnose disease of maize." []	2031728	\N	\N	EFO	4	EFO	material entity	Colletotrichum graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:31870	"Colletotrichum graminicola (teleomorph Glomerella graminicola) is a filamentous ascomycete that causes anthracnose disease of maize." []	3182293	\N	\N	EFO	5	EFO	experimental factor	Colletotrichum graminicola {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:3258	\N	\N	"Equisetum arvense, the field horsetail or common horsetail is a herbaceous perennial plant, native throughout the arctic and temperate regions of the northern hemisphere." []	NCBITaxon:3258	"Equisetum arvense, the field horsetail or common horsetail is a herbaceous perennial plant, native throughout the arctic and temperate regions of the northern hemisphere." []	72148	\N	\N	EFO	0	EFO	Equisetum arvense {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Equisetum arvense {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33090	NCBITaxon:3258	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3258	"Equisetum arvense, the field horsetail or common horsetail is a herbaceous perennial plant, native throughout the arctic and temperate regions of the northern hemisphere." []	214097	\N	\N	EFO	1	EFO	Viridiplantae	Equisetum arvense {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33090	\N	"" []	NCBITaxon:3258	"Equisetum arvense, the field horsetail or common horsetail is a herbaceous perennial plant, native throughout the arctic and temperate regions of the northern hemisphere." []	568020	\N	\N	EFO	2	EFO	Eukaryota	Equisetum arvense {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:3258	"Equisetum arvense, the field horsetail or common horsetail is a herbaceous perennial plant, native throughout the arctic and temperate regions of the northern hemisphere." []	1149506	\N	\N	EFO	3	EFO	organism	Equisetum arvense {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:3258	"Equisetum arvense, the field horsetail or common horsetail is a herbaceous perennial plant, native throughout the arctic and temperate regions of the northern hemisphere." []	2031729	\N	\N	EFO	4	EFO	material entity	Equisetum arvense {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:3258	"Equisetum arvense, the field horsetail or common horsetail is a herbaceous perennial plant, native throughout the arctic and temperate regions of the northern hemisphere." []	3182294	\N	\N	EFO	5	EFO	experimental factor	Equisetum arvense {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:33090	"Viridiplantae are a clade comprising the green algae and land plants." []	72161	\N	\N	EFO	0	EFO	Viridiplantae	Viridiplantae
NCBITaxon:2759	NCBITaxon:33090	\N	"" []	NCBITaxon:33090	"Viridiplantae are a clade comprising the green algae and land plants." []	214098	\N	\N	EFO	1	EFO	Eukaryota	Viridiplantae
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:33090	"Viridiplantae are a clade comprising the green algae and land plants." []	568021	\N	\N	EFO	2	EFO	organism	Viridiplantae
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:33090	"Viridiplantae are a clade comprising the green algae and land plants." []	1149507	\N	\N	EFO	3	EFO	material entity	Viridiplantae
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:33090	"Viridiplantae are a clade comprising the green algae and land plants." []	2031730	\N	\N	EFO	4	EFO	experimental factor	Viridiplantae
NCBITaxon:33154	\N	\N	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	NCBITaxon:33154	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	72164	\N	\N	EFO	0	EFO	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33154	\N	"" []	NCBITaxon:33154	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	214099	\N	\N	EFO	1	EFO	Eukaryota	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:33154	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	568022	\N	\N	EFO	2	EFO	organism	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:33154	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	1149508	\N	\N	EFO	3	EFO	material entity	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:33154	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	2031731	\N	\N	EFO	4	EFO	experimental factor	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33208	\N	\N	"Metazoa or animals are multicellular, eukaryotic organisms" []	NCBITaxon:33208	"Metazoa or animals are multicellular, eukaryotic organisms" []	72165	\N	\N	EFO	0	EFO	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33154	NCBITaxon:33208	\N	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	NCBITaxon:33208	"Metazoa or animals are multicellular, eukaryotic organisms" []	214100	\N	\N	EFO	1	EFO	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33154	\N	"" []	NCBITaxon:33208	"Metazoa or animals are multicellular, eukaryotic organisms" []	568023	\N	\N	EFO	2	EFO	Eukaryota	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:33208	"Metazoa or animals are multicellular, eukaryotic organisms" []	1149509	\N	\N	EFO	3	EFO	organism	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:33208	"Metazoa or animals are multicellular, eukaryotic organisms" []	2031732	\N	\N	EFO	4	EFO	material entity	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:33208	"Metazoa or animals are multicellular, eukaryotic organisms" []	3182295	\N	\N	EFO	5	EFO	experimental factor	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33634	\N	\N	"The stramenopiles (Heterokonta) are one of the phylogenetic groups of eukaryotes and include organisms as diverse as unicellular and multicellular algae, fungus-like cells, and parasitic and free-living flagellates." []	NCBITaxon:33634	"The stramenopiles (Heterokonta) are one of the phylogenetic groups of eukaryotes and include organisms as diverse as unicellular and multicellular algae, fungus-like cells, and parasitic and free-living flagellates." []	72176	\N	\N	EFO	0	EFO	Stramenopiles {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Stramenopiles {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33634	\N	"" []	NCBITaxon:33634	"The stramenopiles (Heterokonta) are one of the phylogenetic groups of eukaryotes and include organisms as diverse as unicellular and multicellular algae, fungus-like cells, and parasitic and free-living flagellates." []	214101	\N	\N	EFO	1	EFO	Eukaryota	Stramenopiles {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:33634	"The stramenopiles (Heterokonta) are one of the phylogenetic groups of eukaryotes and include organisms as diverse as unicellular and multicellular algae, fungus-like cells, and parasitic and free-living flagellates." []	568024	\N	\N	EFO	2	EFO	organism	Stramenopiles {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:33634	"The stramenopiles (Heterokonta) are one of the phylogenetic groups of eukaryotes and include organisms as diverse as unicellular and multicellular algae, fungus-like cells, and parasitic and free-living flagellates." []	1149510	\N	\N	EFO	3	EFO	material entity	Stramenopiles {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:33634	"The stramenopiles (Heterokonta) are one of the phylogenetic groups of eukaryotes and include organisms as diverse as unicellular and multicellular algae, fungus-like cells, and parasitic and free-living flagellates." []	2031733	\N	\N	EFO	4	EFO	experimental factor	Stramenopiles {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:336722	\N	\N	"Zymoseptoria tritici IPO323 is one isolate of Zymoseptoria tritici" []	NCBITaxon:336722	"Zymoseptoria tritici IPO323 is one isolate of Zymoseptoria tritici" []	72178	\N	\N	EFO	0	EFO	Zymoseptoria tritici IPO323 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Zymoseptoria tritici IPO323 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:1047171	\N	\N	"" []	NCBITaxon:336722	"Zymoseptoria tritici IPO323 is one isolate of Zymoseptoria tritici" []	195231	\N	\N	EFO	0	EFO	Zymoseptoria tritici	Zymoseptoria tritici IPO323 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:337	\N	\N	"Burkholderia glumae is bacterial plant pathogen that causes bacterial panicle blight of rice." []	NCBITaxon:337	"Burkholderia glumae is bacterial plant pathogen that causes bacterial panicle blight of rice." []	72179	\N	\N	EFO	0	EFO	Burkholderia glumae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Burkholderia glumae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2	\N	\N	"" []	NCBITaxon:337	"Burkholderia glumae is bacterial plant pathogen that causes bacterial panicle blight of rice." []	195232	\N	\N	EFO	0	EFO	Bacteria	Burkholderia glumae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:338	\N	\N	"Xanthomonas is a genus of Proteobacteria, many of which cause plant diseases." []	NCBITaxon:338	"Xanthomonas is a genus of Proteobacteria, many of which cause plant diseases." []	72181	\N	\N	EFO	0	EFO	Xanthomonas {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Xanthomonas {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2	\N	\N	"" []	NCBITaxon:338	"Xanthomonas is a genus of Proteobacteria, many of which cause plant diseases." []	195233	\N	\N	EFO	0	EFO	Bacteria	Xanthomonas {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:362338	\N	\N	"Hirschmanniella oryzae is the most abundant plant-parasitic nematode in flooded rice ecosystems all over the world" []	NCBITaxon:362338	"Hirschmanniella oryzae is the most abundant plant-parasitic nematode in flooded rice ecosystems all over the world" []	72244	\N	\N	EFO	0	EFO	Hirschmanniella oryzae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Hirschmanniella oryzae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007337	NCBITaxon:362338	\N	"The phylum Nematoda (roundworms) is one of the most common phyla of animals, estimated to contain over a million species. Over 20,000 nematode species have been described, most of them are free-living but many are successful parasites of humans, animals, and plants, causing diseases of major socio-economic importance globally." []	NCBITaxon:362338	"Hirschmanniella oryzae is the most abundant plant-parasitic nematode in flooded rice ecosystems all over the world" []	214102	\N	\N	EFO	1	EFO	Nematoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Hirschmanniella oryzae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33208	EO:0007337	\N	"Metazoa or animals are multicellular, eukaryotic organisms" []	NCBITaxon:362338	"Hirschmanniella oryzae is the most abundant plant-parasitic nematode in flooded rice ecosystems all over the world" []	568025	\N	\N	EFO	2	EFO	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Hirschmanniella oryzae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33154	NCBITaxon:33208	\N	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	NCBITaxon:362338	"Hirschmanniella oryzae is the most abundant plant-parasitic nematode in flooded rice ecosystems all over the world" []	1149511	\N	\N	EFO	3	EFO	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Hirschmanniella oryzae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33154	\N	"" []	NCBITaxon:362338	"Hirschmanniella oryzae is the most abundant plant-parasitic nematode in flooded rice ecosystems all over the world" []	2031734	\N	\N	EFO	4	EFO	Eukaryota	Hirschmanniella oryzae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:362338	"Hirschmanniella oryzae is the most abundant plant-parasitic nematode in flooded rice ecosystems all over the world" []	3182296	\N	\N	EFO	5	EFO	organism	Hirschmanniella oryzae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:362338	"Hirschmanniella oryzae is the most abundant plant-parasitic nematode in flooded rice ecosystems all over the world" []	4390406	\N	\N	EFO	6	EFO	material entity	Hirschmanniella oryzae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:362338	"Hirschmanniella oryzae is the most abundant plant-parasitic nematode in flooded rice ecosystems all over the world" []	5409753	\N	\N	EFO	7	EFO	experimental factor	Hirschmanniella oryzae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:3714	\N	\N	"" []	NCBITaxon:3714	"" []	72274	\N	\N	EFO	0	EFO	Brassica oleracea var. alboglabra	Brassica oleracea var. alboglabra
NCBITaxon:3712	\N	\N	"" []	NCBITaxon:3714	"" []	195293	\N	\N	EFO	0	EFO	Brassica oleracea	Brassica oleracea var. alboglabra
NCBITaxon:40559	\N	\N	"Botrytis cinerea (teleomorph, Botryotinia fuckeliana) is an airborne plant pathogen with a necrotrophic lifestyle attacking over 200 crop hosts worldwide." []	NCBITaxon:40559	"Botrytis cinerea (teleomorph, Botryotinia fuckeliana) is an airborne plant pathogen with a necrotrophic lifestyle attacking over 200 crop hosts worldwide." []	72366	\N	\N	EFO	0	EFO	Botrytis cinerea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Botrytis cinerea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4890	NCBITaxon:40559	\N	"Strain or line specific to yeast" []	NCBITaxon:40559	"Botrytis cinerea (teleomorph, Botryotinia fuckeliana) is an airborne plant pathogen with a necrotrophic lifestyle attacking over 200 crop hosts worldwide." []	214103	\N	\N	EFO	1	EFO	Ascomycota	Botrytis cinerea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:4890	\N	"" []	NCBITaxon:40559	"Botrytis cinerea (teleomorph, Botryotinia fuckeliana) is an airborne plant pathogen with a necrotrophic lifestyle attacking over 200 crop hosts worldwide." []	568026	\N	\N	EFO	2	EFO	Eukaryota	Botrytis cinerea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:40559	"Botrytis cinerea (teleomorph, Botryotinia fuckeliana) is an airborne plant pathogen with a necrotrophic lifestyle attacking over 200 crop hosts worldwide." []	1149512	\N	\N	EFO	3	EFO	organism	Botrytis cinerea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:40559	"Botrytis cinerea (teleomorph, Botryotinia fuckeliana) is an airborne plant pathogen with a necrotrophic lifestyle attacking over 200 crop hosts worldwide." []	2031735	\N	\N	EFO	4	EFO	material entity	Botrytis cinerea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:40559	"Botrytis cinerea (teleomorph, Botryotinia fuckeliana) is an airborne plant pathogen with a necrotrophic lifestyle attacking over 200 crop hosts worldwide." []	3182297	\N	\N	EFO	5	EFO	experimental factor	Botrytis cinerea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:431317	\N	\N	"Triticum mosaic virus is a wheat pathogen that belongs to the Potyviridae family of positive-strand RNA viruses." []	NCBITaxon:431317	"Triticum mosaic virus is a wheat pathogen that belongs to the Potyviridae family of positive-strand RNA viruses." []	72412	\N	\N	EFO	0	EFO	Triticum mosaic virus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Triticum mosaic virus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:10239	\N	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:431317	"Triticum mosaic virus is a wheat pathogen that belongs to the Potyviridae family of positive-strand RNA viruses." []	195371	\N	\N	EFO	0	EFO	Virus	Triticum mosaic virus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:446304	\N	\N	"" []	NCBITaxon:446304	"" []	72433	\N	\N	EFO	0	EFO	Rhabditis remanei	Rhabditis remanei
NCBITaxon:55887	NCBITaxon:446304	\N	"" []	NCBITaxon:446304	"" []	214104	\N	\N	EFO	1	EFO	Rhabditinae	Rhabditis remanei
NCBITaxon:2759	NCBITaxon:55887	\N	"" []	NCBITaxon:446304	"" []	568027	\N	\N	EFO	2	EFO	Eukaryota	Rhabditis remanei
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:446304	"" []	1149513	\N	\N	EFO	3	EFO	organism	Rhabditis remanei
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:446304	"" []	2031736	\N	\N	EFO	4	EFO	material entity	Rhabditis remanei
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:446304	"" []	3182298	\N	\N	EFO	5	EFO	experimental factor	Rhabditis remanei
NCBITaxon:4537	\N	\N	"Oryza punctata is a grass in the rice genus Oryza, also known as red rice, related to cultivated rice Oryza sativa." []	NCBITaxon:4537	"Oryza punctata is a grass in the rice genus Oryza, also known as red rice, related to cultivated rice Oryza sativa." []	72454	\N	\N	EFO	0	EFO	Oryza punctata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Oryza punctata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33090	NCBITaxon:4537	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4537	"Oryza punctata is a grass in the rice genus Oryza, also known as red rice, related to cultivated rice Oryza sativa." []	214105	\N	\N	EFO	1	EFO	Viridiplantae	Oryza punctata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33090	\N	"" []	NCBITaxon:4537	"Oryza punctata is a grass in the rice genus Oryza, also known as red rice, related to cultivated rice Oryza sativa." []	568028	\N	\N	EFO	2	EFO	Eukaryota	Oryza punctata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:4537	"Oryza punctata is a grass in the rice genus Oryza, also known as red rice, related to cultivated rice Oryza sativa." []	1149514	\N	\N	EFO	3	EFO	organism	Oryza punctata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:4537	"Oryza punctata is a grass in the rice genus Oryza, also known as red rice, related to cultivated rice Oryza sativa." []	2031737	\N	\N	EFO	4	EFO	material entity	Oryza punctata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:4537	"Oryza punctata is a grass in the rice genus Oryza, also known as red rice, related to cultivated rice Oryza sativa." []	3182299	\N	\N	EFO	5	EFO	experimental factor	Oryza punctata {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4573	\N	\N	"Aegilops speltoides is an edible plant in the Poaceae family native to Southeastern Europe and Western Asia, which is often used for animal feed, and it has grown in cultivated beds. This plant is an important natural source disease resistance in wheat, and it is known or likely to be susceptible to barley mild mosaic bymovirus." []	NCBITaxon:4573	"Aegilops speltoides is an edible plant in the Poaceae family native to Southeastern Europe and Western Asia, which is often used for animal feed, and it has grown in cultivated beds. This plant is an important natural source disease resistance in wheat, and it is known or likely to be susceptible to barley mild mosaic bymovirus." []	72468	\N	\N	EFO	0	EFO	Aegilops speltoides {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Aegilops speltoides {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33090	NCBITaxon:4573	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4573	"Aegilops speltoides is an edible plant in the Poaceae family native to Southeastern Europe and Western Asia, which is often used for animal feed, and it has grown in cultivated beds. This plant is an important natural source disease resistance in wheat, and it is known or likely to be susceptible to barley mild mosaic bymovirus." []	214106	\N	\N	EFO	1	EFO	Viridiplantae	Aegilops speltoides {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33090	\N	"" []	NCBITaxon:4573	"Aegilops speltoides is an edible plant in the Poaceae family native to Southeastern Europe and Western Asia, which is often used for animal feed, and it has grown in cultivated beds. This plant is an important natural source disease resistance in wheat, and it is known or likely to be susceptible to barley mild mosaic bymovirus." []	568029	\N	\N	EFO	2	EFO	Eukaryota	Aegilops speltoides {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:4573	"Aegilops speltoides is an edible plant in the Poaceae family native to Southeastern Europe and Western Asia, which is often used for animal feed, and it has grown in cultivated beds. This plant is an important natural source disease resistance in wheat, and it is known or likely to be susceptible to barley mild mosaic bymovirus." []	1149515	\N	\N	EFO	3	EFO	organism	Aegilops speltoides {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:4573	"Aegilops speltoides is an edible plant in the Poaceae family native to Southeastern Europe and Western Asia, which is often used for animal feed, and it has grown in cultivated beds. This plant is an important natural source disease resistance in wheat, and it is known or likely to be susceptible to barley mild mosaic bymovirus." []	2031738	\N	\N	EFO	4	EFO	material entity	Aegilops speltoides {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:4573	"Aegilops speltoides is an edible plant in the Poaceae family native to Southeastern Europe and Western Asia, which is often used for animal feed, and it has grown in cultivated beds. This plant is an important natural source disease resistance in wheat, and it is known or likely to be susceptible to barley mild mosaic bymovirus." []	3182300	\N	\N	EFO	5	EFO	experimental factor	Aegilops speltoides {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4579	\N	\N	"Zea mays subsp. mexicana is one of the two annual diploid species that represents teosinte." []	NCBITaxon:4579	"Zea mays subsp. mexicana is one of the two annual diploid species that represents teosinte." []	72470	\N	\N	EFO	0	EFO	Zea mays subsp. mexicana {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Zea mays subsp. mexicana {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4577	\N	\N	"" []	NCBITaxon:4579	"Zea mays subsp. mexicana is one of the two annual diploid species that represents teosinte." []	195407	\N	\N	EFO	0	EFO	Zea mays	Zea mays subsp. mexicana {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:473156	\N	\N	"" []	NCBITaxon:473156	"" []	72483	\N	\N	EFO	0	EFO	Oscheius dolichura	Oscheius dolichura
NCBITaxon:55887	NCBITaxon:473156	\N	"" []	NCBITaxon:473156	"" []	214107	\N	\N	EFO	1	EFO	Rhabditinae	Oscheius dolichura
NCBITaxon:2759	NCBITaxon:55887	\N	"" []	NCBITaxon:473156	"" []	568030	\N	\N	EFO	2	EFO	Eukaryota	Oscheius dolichura
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:473156	"" []	1149516	\N	\N	EFO	3	EFO	organism	Oscheius dolichura
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:473156	"" []	2031739	\N	\N	EFO	4	EFO	material entity	Oscheius dolichura
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:473156	"" []	3182301	\N	\N	EFO	5	EFO	experimental factor	Oscheius dolichura
NCBITaxon:4751	\N	\N	"Fungi are eukaryotic organisms that belong to their own kingdom, separate from the other eukaryotic life kingdoms of plants and animals. It includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms." []	NCBITaxon:4751	"Fungi are eukaryotic organisms that belong to their own kingdom, separate from the other eukaryotic life kingdoms of plants and animals. It includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms." []	72487	\N	\N	EFO	0	EFO	Fungi {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Fungi {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33154	NCBITaxon:4751	\N	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	NCBITaxon:4751	"Fungi are eukaryotic organisms that belong to their own kingdom, separate from the other eukaryotic life kingdoms of plants and animals. It includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms." []	214108	\N	\N	EFO	1	EFO	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Fungi {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33154	\N	"" []	NCBITaxon:4751	"Fungi are eukaryotic organisms that belong to their own kingdom, separate from the other eukaryotic life kingdoms of plants and animals. It includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms." []	568031	\N	\N	EFO	2	EFO	Eukaryota	Fungi {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:4751	"Fungi are eukaryotic organisms that belong to their own kingdom, separate from the other eukaryotic life kingdoms of plants and animals. It includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms." []	1149517	\N	\N	EFO	3	EFO	organism	Fungi {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:4751	"Fungi are eukaryotic organisms that belong to their own kingdom, separate from the other eukaryotic life kingdoms of plants and animals. It includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms." []	2031740	\N	\N	EFO	4	EFO	material entity	Fungi {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:4751	"Fungi are eukaryotic organisms that belong to their own kingdom, separate from the other eukaryotic life kingdoms of plants and animals. It includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms." []	3182302	\N	\N	EFO	5	EFO	experimental factor	Fungi {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4762	\N	\N	"Oomycetes form a diverse group of fungus-like eukaryotic microorganisms, also known as water molds, that include both saprophytes and pathogens of plants, insects, crustaceans, fish, vertebrate animals, and various microorganisms." []	NCBITaxon:4762	"Oomycetes form a diverse group of fungus-like eukaryotic microorganisms, also known as water molds, that include both saprophytes and pathogens of plants, insects, crustaceans, fish, vertebrate animals, and various microorganisms." []	72489	\N	\N	EFO	0	EFO	Oomycetes {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Oomycetes {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33634	NCBITaxon:4762	\N	"The stramenopiles (Heterokonta) are one of the phylogenetic groups of eukaryotes and include organisms as diverse as unicellular and multicellular algae, fungus-like cells, and parasitic and free-living flagellates." []	NCBITaxon:4762	"Oomycetes form a diverse group of fungus-like eukaryotic microorganisms, also known as water molds, that include both saprophytes and pathogens of plants, insects, crustaceans, fish, vertebrate animals, and various microorganisms." []	214109	\N	\N	EFO	1	EFO	Stramenopiles {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Oomycetes {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33634	\N	"" []	NCBITaxon:4762	"Oomycetes form a diverse group of fungus-like eukaryotic microorganisms, also known as water molds, that include both saprophytes and pathogens of plants, insects, crustaceans, fish, vertebrate animals, and various microorganisms." []	568032	\N	\N	EFO	2	EFO	Eukaryota	Oomycetes {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:4762	"Oomycetes form a diverse group of fungus-like eukaryotic microorganisms, also known as water molds, that include both saprophytes and pathogens of plants, insects, crustaceans, fish, vertebrate animals, and various microorganisms." []	1149518	\N	\N	EFO	3	EFO	organism	Oomycetes {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:4762	"Oomycetes form a diverse group of fungus-like eukaryotic microorganisms, also known as water molds, that include both saprophytes and pathogens of plants, insects, crustaceans, fish, vertebrate animals, and various microorganisms." []	2031741	\N	\N	EFO	4	EFO	material entity	Oomycetes {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:4762	"Oomycetes form a diverse group of fungus-like eukaryotic microorganisms, also known as water molds, that include both saprophytes and pathogens of plants, insects, crustaceans, fish, vertebrate animals, and various microorganisms." []	3182303	\N	\N	EFO	5	EFO	experimental factor	Oomycetes {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:4890	"Strain or line specific to yeast" []	72523	\N	\N	EFO	0	EFO	Ascomycota	Ascomycota
NCBITaxon:2759	NCBITaxon:4890	\N	"" []	NCBITaxon:4890	"Strain or line specific to yeast" []	214110	\N	\N	EFO	1	EFO	Eukaryota	Ascomycota
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:4890	"Strain or line specific to yeast" []	568033	\N	\N	EFO	2	EFO	organism	Ascomycota
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:4890	"Strain or line specific to yeast" []	1149519	\N	\N	EFO	3	EFO	material entity	Ascomycota
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:4890	"Strain or line specific to yeast" []	2031742	\N	\N	EFO	4	EFO	experimental factor	Ascomycota
NCBITaxon:49225	\N	\N	"Triticum dicoccon (cultivated emmer wheat) is one of the earliest domesticated wheat species." []	NCBITaxon:49225	"Triticum dicoccon (cultivated emmer wheat) is one of the earliest domesticated wheat species." []	72527	\N	\N	EFO	0	EFO	Triticum dicoccon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Triticum dicoccon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33090	NCBITaxon:49225	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:49225	"Triticum dicoccon (cultivated emmer wheat) is one of the earliest domesticated wheat species." []	214111	\N	\N	EFO	1	EFO	Viridiplantae	Triticum dicoccon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33090	\N	"" []	NCBITaxon:49225	"Triticum dicoccon (cultivated emmer wheat) is one of the earliest domesticated wheat species." []	568034	\N	\N	EFO	2	EFO	Eukaryota	Triticum dicoccon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:49225	"Triticum dicoccon (cultivated emmer wheat) is one of the earliest domesticated wheat species." []	1149520	\N	\N	EFO	3	EFO	organism	Triticum dicoccon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:49225	"Triticum dicoccon (cultivated emmer wheat) is one of the earliest domesticated wheat species." []	2031743	\N	\N	EFO	4	EFO	material entity	Triticum dicoccon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:49225	"Triticum dicoccon (cultivated emmer wheat) is one of the earliest domesticated wheat species." []	3182304	\N	\N	EFO	5	EFO	experimental factor	Triticum dicoccon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:50557	\N	\N	"Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." []	NCBITaxon:50557	"Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." []	72545	\N	\N	EFO	0	EFO	Insecta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Insecta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:6656	NCBITaxon:50557	\N	"An arthropod (from Greek arthro-, joint + podos, foot) is an invertebrate animal having an exoskeleton (external skeleton), a segmented body, and jointed appendages. Arthropods form the phylum Arthropoda, and include the insects, arachnids, myriapods, and crustaceans." []	NCBITaxon:50557	"Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." []	214112	\N	\N	EFO	1	EFO	Arthropoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Insecta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33208	NCBITaxon:6656	\N	"Metazoa or animals are multicellular, eukaryotic organisms" []	NCBITaxon:50557	"Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." []	568035	\N	\N	EFO	2	EFO	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Insecta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33154	NCBITaxon:33208	\N	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	NCBITaxon:50557	"Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." []	1149521	\N	\N	EFO	3	EFO	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Insecta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33154	\N	"" []	NCBITaxon:50557	"Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." []	2031744	\N	\N	EFO	4	EFO	Eukaryota	Insecta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:50557	"Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." []	3182305	\N	\N	EFO	5	EFO	organism	Insecta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:50557	"Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." []	4390407	\N	\N	EFO	6	EFO	material entity	Insecta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:50557	"Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." []	5409754	\N	\N	EFO	7	EFO	experimental factor	Insecta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:51336	\N	\N	"Cabbage leaf curl virus is a bipartite geminivirus that infects a broad range of plants within the Brassicaceae, including cabbage, cauliflower, and Arabidopsis." []	NCBITaxon:51336	"Cabbage leaf curl virus is a bipartite geminivirus that infects a broad range of plants within the Brassicaceae, including cabbage, cauliflower, and Arabidopsis." []	72560	\N	\N	EFO	0	EFO	Cabbage leaf curl virus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Cabbage leaf curl virus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:10239	\N	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:51336	"Cabbage leaf curl virus is a bipartite geminivirus that infects a broad range of plants within the Brassicaceae, including cabbage, cauliflower, and Arabidopsis." []	195464	\N	\N	EFO	0	EFO	Virus	Cabbage leaf curl virus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:52586	\N	\N	"Erysiphe necator is a obligate biotrophic fungus that causes grapevine powdery mildew" []	NCBITaxon:52586	"Erysiphe necator is a obligate biotrophic fungus that causes grapevine powdery mildew" []	72576	\N	\N	EFO	0	EFO	Erysiphe necator {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Erysiphe necator {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4890	NCBITaxon:52586	\N	"Strain or line specific to yeast" []	NCBITaxon:52586	"Erysiphe necator is a obligate biotrophic fungus that causes grapevine powdery mildew" []	214113	\N	\N	EFO	1	EFO	Ascomycota	Erysiphe necator {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:4890	\N	"" []	NCBITaxon:52586	"Erysiphe necator is a obligate biotrophic fungus that causes grapevine powdery mildew" []	568036	\N	\N	EFO	2	EFO	Eukaryota	Erysiphe necator {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:52586	"Erysiphe necator is a obligate biotrophic fungus that causes grapevine powdery mildew" []	1149522	\N	\N	EFO	3	EFO	organism	Erysiphe necator {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:52586	"Erysiphe necator is a obligate biotrophic fungus that causes grapevine powdery mildew" []	2031745	\N	\N	EFO	4	EFO	material entity	Erysiphe necator {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:52586	"Erysiphe necator is a obligate biotrophic fungus that causes grapevine powdery mildew" []	3182306	\N	\N	EFO	5	EFO	experimental factor	Erysiphe necator {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:5506	\N	\N	"Fusarium is a large genus of filamentous fungi, part of a group often referred to as hyphomycetes, widely distributed in soil and associated with plants." []	NCBITaxon:5506	"Fusarium is a large genus of filamentous fungi, part of a group often referred to as hyphomycetes, widely distributed in soil and associated with plants." []	72610	\N	\N	EFO	0	EFO	Fusarium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Fusarium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4890	NCBITaxon:5506	\N	"Strain or line specific to yeast" []	NCBITaxon:5506	"Fusarium is a large genus of filamentous fungi, part of a group often referred to as hyphomycetes, widely distributed in soil and associated with plants." []	214114	\N	\N	EFO	1	EFO	Ascomycota	Fusarium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:4890	\N	"" []	NCBITaxon:5506	"Fusarium is a large genus of filamentous fungi, part of a group often referred to as hyphomycetes, widely distributed in soil and associated with plants." []	568037	\N	\N	EFO	2	EFO	Eukaryota	Fusarium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:5506	"Fusarium is a large genus of filamentous fungi, part of a group often referred to as hyphomycetes, widely distributed in soil and associated with plants." []	1149523	\N	\N	EFO	3	EFO	organism	Fusarium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:5506	"Fusarium is a large genus of filamentous fungi, part of a group often referred to as hyphomycetes, widely distributed in soil and associated with plants." []	2031746	\N	\N	EFO	4	EFO	material entity	Fusarium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:5506	"Fusarium is a large genus of filamentous fungi, part of a group often referred to as hyphomycetes, widely distributed in soil and associated with plants." []	3182307	\N	\N	EFO	5	EFO	experimental factor	Fusarium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:555	\N	\N	"" []	NCBITaxon:555	"" []	72625	\N	\N	EFO	0	EFO	Pectobacterium carotovorum subsp. carotovorum	Pectobacterium carotovorum subsp. carotovorum
NCBITaxon:554	\N	\N	"" []	NCBITaxon:555	"" []	195502	\N	\N	EFO	0	EFO	Pectobacterium carotovorum	Pectobacterium carotovorum subsp. carotovorum
NCBITaxon:55887	\N	\N	"" []	NCBITaxon:55887	"" []	72630	\N	\N	EFO	0	EFO	Rhabditinae	Rhabditinae
NCBITaxon:2759	NCBITaxon:55887	\N	"" []	NCBITaxon:55887	"" []	214115	\N	\N	EFO	1	EFO	Eukaryota	Rhabditinae
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:55887	"" []	568038	\N	\N	EFO	2	EFO	organism	Rhabditinae
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:55887	"" []	1149524	\N	\N	EFO	3	EFO	material entity	Rhabditinae
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:55887	"" []	2031747	\N	\N	EFO	4	EFO	experimental factor	Rhabditinae
NCBITaxon:6237	\N	\N	"" []	NCBITaxon:6237	"" []	72706	\N	\N	EFO	0	EFO	Caenorhabditis	Caenorhabditis
NCBITaxon:2759	NCBITaxon:6237	\N	"" []	NCBITaxon:6237	"" []	214116	\N	\N	EFO	1	EFO	Eukaryota	Caenorhabditis
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:6237	"" []	568039	\N	\N	EFO	2	EFO	organism	Caenorhabditis
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:6237	"" []	1149525	\N	\N	EFO	3	EFO	material entity	Caenorhabditis
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:6237	"" []	2031748	\N	\N	EFO	4	EFO	experimental factor	Caenorhabditis
NCBITaxon:62690	\N	\N	"Blumeria graminis forma specialis tritici is a fungal pathogen of the Blumeria genus that causes powdery mildew on wheat." []	NCBITaxon:62690	"Blumeria graminis forma specialis tritici is a fungal pathogen of the Blumeria genus that causes powdery mildew on wheat." []	72710	\N	\N	EFO	0	EFO	Blumeria graminis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Blumeria graminis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4890	NCBITaxon:62690	\N	"Strain or line specific to yeast" []	NCBITaxon:62690	"Blumeria graminis forma specialis tritici is a fungal pathogen of the Blumeria genus that causes powdery mildew on wheat." []	214117	\N	\N	EFO	1	EFO	Ascomycota	Blumeria graminis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:4890	\N	"" []	NCBITaxon:62690	"Blumeria graminis forma specialis tritici is a fungal pathogen of the Blumeria genus that causes powdery mildew on wheat." []	568040	\N	\N	EFO	2	EFO	Eukaryota	Blumeria graminis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:62690	"Blumeria graminis forma specialis tritici is a fungal pathogen of the Blumeria genus that causes powdery mildew on wheat." []	1149526	\N	\N	EFO	3	EFO	organism	Blumeria graminis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:62690	"Blumeria graminis forma specialis tritici is a fungal pathogen of the Blumeria genus that causes powdery mildew on wheat." []	2031749	\N	\N	EFO	4	EFO	material entity	Blumeria graminis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:62690	"Blumeria graminis forma specialis tritici is a fungal pathogen of the Blumeria genus that causes powdery mildew on wheat." []	3182308	\N	\N	EFO	5	EFO	experimental factor	Blumeria graminis f. sp. tritici {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:6656	\N	\N	"An arthropod (from Greek arthro-, joint + podos, foot) is an invertebrate animal having an exoskeleton (external skeleton), a segmented body, and jointed appendages. Arthropods form the phylum Arthropoda, and include the insects, arachnids, myriapods, and crustaceans." []	NCBITaxon:6656	"An arthropod (from Greek arthro-, joint + podos, foot) is an invertebrate animal having an exoskeleton (external skeleton), a segmented body, and jointed appendages. Arthropods form the phylum Arthropoda, and include the insects, arachnids, myriapods, and crustaceans." []	72743	\N	\N	EFO	0	EFO	Arthropoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Arthropoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33208	NCBITaxon:6656	\N	"Metazoa or animals are multicellular, eukaryotic organisms" []	NCBITaxon:6656	"An arthropod (from Greek arthro-, joint + podos, foot) is an invertebrate animal having an exoskeleton (external skeleton), a segmented body, and jointed appendages. Arthropods form the phylum Arthropoda, and include the insects, arachnids, myriapods, and crustaceans." []	214118	\N	\N	EFO	1	EFO	Metazoa {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Arthropoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33154	NCBITaxon:33208	\N	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	NCBITaxon:6656	"An arthropod (from Greek arthro-, joint + podos, foot) is an invertebrate animal having an exoskeleton (external skeleton), a segmented body, and jointed appendages. Arthropods form the phylum Arthropoda, and include the insects, arachnids, myriapods, and crustaceans." []	568041	\N	\N	EFO	2	EFO	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Arthropoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33154	\N	"" []	NCBITaxon:6656	"An arthropod (from Greek arthro-, joint + podos, foot) is an invertebrate animal having an exoskeleton (external skeleton), a segmented body, and jointed appendages. Arthropods form the phylum Arthropoda, and include the insects, arachnids, myriapods, and crustaceans." []	1149527	\N	\N	EFO	3	EFO	Eukaryota	Arthropoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:6656	"An arthropod (from Greek arthro-, joint + podos, foot) is an invertebrate animal having an exoskeleton (external skeleton), a segmented body, and jointed appendages. Arthropods form the phylum Arthropoda, and include the insects, arachnids, myriapods, and crustaceans." []	2031750	\N	\N	EFO	4	EFO	organism	Arthropoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:6656	"An arthropod (from Greek arthro-, joint + podos, foot) is an invertebrate animal having an exoskeleton (external skeleton), a segmented body, and jointed appendages. Arthropods form the phylum Arthropoda, and include the insects, arachnids, myriapods, and crustaceans." []	3182309	\N	\N	EFO	5	EFO	material entity	Arthropoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:6656	"An arthropod (from Greek arthro-, joint + podos, foot) is an invertebrate animal having an exoskeleton (external skeleton), a segmented body, and jointed appendages. Arthropods form the phylum Arthropoda, and include the insects, arachnids, myriapods, and crustaceans." []	4390408	\N	\N	EFO	6	EFO	experimental factor	Arthropoda {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:72740	\N	\N	"Sporisorium reilianum f. sp. zeae is a fungus (Basidiomycota, Ustilaginaceae) that causes head smut of corn (Zea mays L.)." []	NCBITaxon:72740	"Sporisorium reilianum f. sp. zeae is a fungus (Basidiomycota, Ustilaginaceae) that causes head smut of corn (Zea mays L.)." []	72808	\N	\N	EFO	0	EFO	Sporisorium reilianum f. sp. zeae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Sporisorium reilianum f. sp. zeae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:4751	NCBITaxon:72740	\N	"Fungi are eukaryotic organisms that belong to their own kingdom, separate from the other eukaryotic life kingdoms of plants and animals. It includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms." []	NCBITaxon:72740	"Sporisorium reilianum f. sp. zeae is a fungus (Basidiomycota, Ustilaginaceae) that causes head smut of corn (Zea mays L.)." []	214119	\N	\N	EFO	1	EFO	Fungi {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Sporisorium reilianum f. sp. zeae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33154	NCBITaxon:4751	\N	"The eukaryotic supergroup Opisthokonta includes animals (Metazoa), fungi, and choanoflagellates, as well as the lesser known unicellular lineages Nucleariidae, Fonticula alba, Ichthyosporea, Filasterea and Corallochytrium limacisporum." []	NCBITaxon:72740	"Sporisorium reilianum f. sp. zeae is a fungus (Basidiomycota, Ustilaginaceae) that causes head smut of corn (Zea mays L.)." []	568042	\N	\N	EFO	2	EFO	Opisthokonta {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Sporisorium reilianum f. sp. zeae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33154	\N	"" []	NCBITaxon:72740	"Sporisorium reilianum f. sp. zeae is a fungus (Basidiomycota, Ustilaginaceae) that causes head smut of corn (Zea mays L.)." []	1149528	\N	\N	EFO	3	EFO	Eukaryota	Sporisorium reilianum f. sp. zeae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:72740	"Sporisorium reilianum f. sp. zeae is a fungus (Basidiomycota, Ustilaginaceae) that causes head smut of corn (Zea mays L.)." []	2031751	\N	\N	EFO	4	EFO	organism	Sporisorium reilianum f. sp. zeae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:72740	"Sporisorium reilianum f. sp. zeae is a fungus (Basidiomycota, Ustilaginaceae) that causes head smut of corn (Zea mays L.)." []	3182310	\N	\N	EFO	5	EFO	material entity	Sporisorium reilianum f. sp. zeae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:72740	"Sporisorium reilianum f. sp. zeae is a fungus (Basidiomycota, Ustilaginaceae) that causes head smut of corn (Zea mays L.)." []	4390409	\N	\N	EFO	6	EFO	experimental factor	Sporisorium reilianum f. sp. zeae {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:755351	\N	\N	"Vitis vinifera subsp. silvestris is the wild ancestor of the Eurasian grape (Vitis vinifera ssp. sativa)." []	NCBITaxon:755351	"Vitis vinifera subsp. silvestris is the wild ancestor of the Eurasian grape (Vitis vinifera ssp. sativa)." []	72830	\N	\N	EFO	0	EFO	Vitis vinifera subsp. silvestris {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Vitis vinifera subsp. silvestris {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:29760	\N	\N	"" []	NCBITaxon:755351	"Vitis vinifera subsp. silvestris is the wild ancestor of the Eurasian grape (Vitis vinifera ssp. sativa)." []	195627	\N	\N	EFO	0	EFO	Vitis vinifera	Vitis vinifera subsp. silvestris {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:96645	\N	\N	"" []	NCBITaxon:96645	"" []	73011	\N	\N	EFO	0	EFO	Oscheius dolichuroides	Oscheius dolichuroides
NCBITaxon:55887	NCBITaxon:96645	\N	"" []	NCBITaxon:96645	"" []	214120	\N	\N	EFO	1	EFO	Rhabditinae	Oscheius dolichuroides
NCBITaxon:2759	NCBITaxon:55887	\N	"" []	NCBITaxon:96645	"" []	568043	\N	\N	EFO	2	EFO	Eukaryota	Oscheius dolichuroides
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:96645	"" []	1149529	\N	\N	EFO	3	EFO	organism	Oscheius dolichuroides
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:96645	"" []	2031752	\N	\N	EFO	4	EFO	material entity	Oscheius dolichuroides
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:96645	"" []	3182311	\N	\N	EFO	5	EFO	experimental factor	Oscheius dolichuroides
NCBITaxon:98039	\N	\N	"Schrenkiella parvula is a close relative of Arabidopsis (Arabidopsis thaliana) and Brassica crop species that thrives on the shores of Lake Tuz, Turkey, where soils accumulate high concentrations of multiple-ion salts." []	NCBITaxon:98039	"Schrenkiella parvula is a close relative of Arabidopsis (Arabidopsis thaliana) and Brassica crop species that thrives on the shores of Lake Tuz, Turkey, where soils accumulate high concentrations of multiple-ion salts." []	73019	\N	\N	EFO	0	EFO	Schrenkiella parvula {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Schrenkiella parvula {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:33090	NCBITaxon:98039	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:98039	"Schrenkiella parvula is a close relative of Arabidopsis (Arabidopsis thaliana) and Brassica crop species that thrives on the shores of Lake Tuz, Turkey, where soils accumulate high concentrations of multiple-ion salts." []	214121	\N	\N	EFO	1	EFO	Viridiplantae	Schrenkiella parvula {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
NCBITaxon:2759	NCBITaxon:33090	\N	"" []	NCBITaxon:98039	"Schrenkiella parvula is a close relative of Arabidopsis (Arabidopsis thaliana) and Brassica crop species that thrives on the shores of Lake Tuz, Turkey, where soils accumulate high concentrations of multiple-ion salts." []	568044	\N	\N	EFO	2	EFO	Eukaryota	Schrenkiella parvula {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0100026	NCBITaxon:2759	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:98039	"Schrenkiella parvula is a close relative of Arabidopsis (Arabidopsis thaliana) and Brassica crop species that thrives on the shores of Lake Tuz, Turkey, where soils accumulate high concentrations of multiple-ion salts." []	1149530	\N	\N	EFO	3	EFO	organism	Schrenkiella parvula {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	NCBITaxon:98039	"Schrenkiella parvula is a close relative of Arabidopsis (Arabidopsis thaliana) and Brassica crop species that thrives on the shores of Lake Tuz, Turkey, where soils accumulate high concentrations of multiple-ion salts." []	2031753	\N	\N	EFO	4	EFO	material entity	Schrenkiella parvula {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	NCBITaxon:98039	"Schrenkiella parvula is a close relative of Arabidopsis (Arabidopsis thaliana) and Brassica crop species that thrives on the shores of Lake Tuz, Turkey, where soils accumulate high concentrations of multiple-ion salts." []	3182312	\N	\N	EFO	5	EFO	experimental factor	Schrenkiella parvula {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
OBI:0000018	\N	\N	"The role of a person or organisation in supplying materials such as animal subjects, reagents or other materials used in an investigation." []	OBI:0000018	"The role of a person or organisation in supplying materials such as animal subjects, reagents or other materials used in an investigation." []	73038	\N	\N	EFO	0	EFO	material supplier role	material supplier role
EFO:0002012	OBI:0000018	\N	"An organization role is a role which is borne by an organization." []	OBI:0000018	"The role of a person or organisation in supplying materials such as animal subjects, reagents or other materials used in an investigation." []	214122	\N	\N	EFO	1	EFO	organization role	material supplier role
BFO:0000023	EFO:0002012	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	OBI:0000018	"The role of a person or organisation in supplying materials such as animal subjects, reagents or other materials used in an investigation." []	568045	\N	\N	EFO	2	EFO	role	material supplier role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	OBI:0000018	"The role of a person or organisation in supplying materials such as animal subjects, reagents or other materials used in an investigation." []	1149531	\N	\N	EFO	3	EFO	material property	material supplier role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000018	"The role of a person or organisation in supplying materials such as animal subjects, reagents or other materials used in an investigation." []	2031754	\N	\N	EFO	4	EFO	experimental factor	material supplier role
OBI:0000049	\N	\N	"A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum" []	OBI:0000049	"A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum" []	73039	\N	\N	EFO	0	EFO	mass spectrometer	mass spectrometer
EFO:0000548	OBI:0000049	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0000049	"A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum" []	214123	\N	\N	EFO	1	EFO	instrument	mass spectrometer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0000049	"A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum" []	568046	\N	\N	EFO	2	EFO	material entity	mass spectrometer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000049	"A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum" []	1149532	\N	\N	EFO	3	EFO	experimental factor	mass spectrometer
OBI:0000066	\N	\N	"a planned process that consists of parts: planning, study design execution, documentation and which produce conclusion(s)." []	OBI:0000066	"a planned process that consists of parts: planning, study design execution, documentation and which produce conclusion(s)." []	73040	\N	\N	EFO	0	EFO	investigation	investigation
EFO:0004542	OBI:0000066	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0000066	"a planned process that consists of parts: planning, study design execution, documentation and which produce conclusion(s)." []	214124	\N	\N	EFO	1	EFO	planned process	investigation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0000066	"a planned process that consists of parts: planning, study design execution, documentation and which produce conclusion(s)." []	568047	\N	\N	EFO	2	EFO	process	investigation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000066	"a planned process that consists of parts: planning, study design execution, documentation and which produce conclusion(s)." []	1149533	\N	\N	EFO	3	EFO	experimental factor	investigation
OBI:0000070	\N	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	OBI:0000070	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	73041	\N	\N	EFO	0	EFO	assay	assay
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	OBI:0000070	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	214125	\N	\N	EFO	1	EFO	experimental process	assay
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0000070	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	568048	\N	\N	EFO	2	EFO	planned process	assay
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0000070	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	1149534	\N	\N	EFO	3	EFO	process	assay
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000070	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	2031755	\N	\N	EFO	4	EFO	experimental factor	assay
OBI:0000071	\N	\N	"A data item which is used to indicate the degree of uncertainty about a measurement." []	OBI:0000071	"A data item which is used to indicate the degree of uncertainty about a measurement." []	73042	\N	\N	EFO	0	EFO	quantitative confidence value	quantitative confidence value
IAO:0000027	OBI:0000071	\N	"Data is an information entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements." []	OBI:0000071	"A data item which is used to indicate the degree of uncertainty about a measurement." []	214126	\N	\N	EFO	1	EFO	data item	quantitative confidence value
IAO:0000030	IAO:0000027	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	OBI:0000071	"A data item which is used to indicate the degree of uncertainty about a measurement." []	568049	\N	\N	EFO	2	EFO	information entity	quantitative confidence value
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000071	"A data item which is used to indicate the degree of uncertainty about a measurement." []	1149535	\N	\N	EFO	3	EFO	experimental factor	quantitative confidence value
OBI:0000118	\N	\N	"A gene list is a report of the names or identifiers of genes that are the outcome of an analysis or have been put together for the purpose of an analysis." []	OBI:0000118	"A gene list is a report of the names or identifiers of genes that are the outcome of an analysis or have been put together for the purpose of an analysis." []	73043	\N	\N	EFO	0	EFO	gene list	gene list
IAO:0000100	OBI:0000118	\N	"A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit." []	OBI:0000118	"A gene list is a report of the names or identifiers of genes that are the outcome of an analysis or have been put together for the purpose of an analysis." []	214127	\N	\N	EFO	1	EFO	data set	gene list
IAO:0000030	IAO:0000100	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	OBI:0000118	"A gene list is a report of the names or identifiers of genes that are the outcome of an analysis or have been put together for the purpose of an analysis." []	568050	\N	\N	EFO	2	EFO	information entity	gene list
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000118	"A gene list is a report of the names or identifiers of genes that are the outcome of an analysis or have been put together for the purpose of an analysis." []	1149536	\N	\N	EFO	3	EFO	experimental factor	gene list
OBI:0000181	\N	\N	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	OBI:0000181	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	73044	\N	\N	EFO	0	EFO	population	population
BFO:0000040	OBI:0000181	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0000181	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	214128	\N	\N	EFO	1	EFO	material entity	population
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000181	"A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed." []	568051	\N	\N	EFO	2	EFO	experimental factor	population
OBI:0000245	\N	\N	"An organization is a continuant entity which can play roles,  has members, and has a set of organization rules.  Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members." []	OBI:0000245	"An organization is a continuant entity which can play roles,  has members, and has a set of organization rules.  Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members." []	73045	\N	\N	EFO	0	EFO	organization	organization
BFO:0000040	OBI:0000245	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0000245	"An organization is a continuant entity which can play roles,  has members, and has a set of organization rules.  Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members." []	214129	\N	\N	EFO	1	EFO	material entity	organization
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000245	"An organization is a continuant entity which can play roles,  has members, and has a set of organization rules.  Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members." []	568052	\N	\N	EFO	2	EFO	experimental factor	organization
OBI:0000272	\N	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	OBI:0000272	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	73046	\N	\N	EFO	0	EFO	protocol	protocol
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	OBI:0000272	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	214130	\N	\N	EFO	1	EFO	information entity	protocol
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000272	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	568053	\N	\N	EFO	2	EFO	experimental factor	protocol
OBI:0000275	\N	\N	"Analyte role is a role borne by a molecular entity and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role" []	OBI:0000275	"Analyte role is a role borne by a molecular entity and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role" []	73047	\N	\N	EFO	0	EFO	analyte role	analyte role
BFO:0000023	OBI:0000275	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	OBI:0000275	"Analyte role is a role borne by a molecular entity and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role" []	214131	\N	\N	EFO	1	EFO	role	analyte role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	OBI:0000275	"Analyte role is a role borne by a molecular entity and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role" []	568054	\N	\N	EFO	2	EFO	material property	analyte role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000275	"Analyte role is a role borne by a molecular entity and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role" []	1149537	\N	\N	EFO	3	EFO	experimental factor	analyte role
OBI:0000415	\N	\N	"PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." []	OBI:0000415	"PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." []	73048	\N	\N	EFO	0	EFO	PCR	PCR
EFO:0004105	OBI:0000415	\N	"Sequencing library selection permitted in Atlas" []	OBI:0000415	"PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." []	214132	\N	\N	EFO	1	EFO	seq library selection	PCR
EFO:0004184	OBI:0000415	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	OBI:0000415	"PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." []	214133	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	PCR
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	OBI:0000415	"PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." []	568055	\N	\N	EFO	2	EFO	experimental process	PCR
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	OBI:0000415	"PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." []	568056	\N	\N	EFO	2	EFO	protocol	PCR
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0000415	"PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." []	1149538	\N	\N	EFO	3	EFO	planned process	PCR
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	OBI:0000415	"PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." []	1149539	\N	\N	EFO	3	EFO	information entity	PCR
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0000415	"PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." []	2031756	\N	\N	EFO	4	EFO	process	PCR
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000415	"PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." []	2031757	\N	\N	EFO	4	EFO	experimental factor	PCR
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000415	"PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." []	3182313	\N	\N	EFO	5	EFO	experimental factor	PCR
OBI:0000427	\N	\N	"(protein or rna) or has_part (protein or rna) and has_function some GO:0003824 (catalytic activity)" []	OBI:0000427	"(protein or rna) or has_part (protein or rna) and has_function some GO:0003824 (catalytic activity)" []	73049	\N	\N	EFO	0	EFO	enzyme	enzyme
BFO:0000040	OBI:0000427	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0000427	"(protein or rna) or has_part (protein or rna) and has_function some GO:0003824 (catalytic activity)" []	214134	\N	\N	EFO	1	EFO	material entity	enzyme
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000427	"(protein or rna) or has_part (protein or rna) and has_function some GO:0003824 (catalytic activity)" []	568057	\N	\N	EFO	2	EFO	experimental factor	enzyme
OBI:0000552	\N	\N	"Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." []	OBI:0000552	"Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." []	73050	\N	\N	EFO	0	EFO	reverse transcription PCR	reverse transcription PCR
EFO:0004105	OBI:0000552	\N	"Sequencing library selection permitted in Atlas" []	OBI:0000552	"Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." []	214135	\N	\N	EFO	1	EFO	seq library selection	reverse transcription PCR
EFO:0004184	OBI:0000552	\N	"A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library." []	OBI:0000552	"Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." []	214136	\N	\N	EFO	1	EFO	nucleic acid library construction protocol	reverse transcription PCR
EFO:0002694	EFO:0004105	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	OBI:0000552	"Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." []	568058	\N	\N	EFO	2	EFO	experimental process	reverse transcription PCR
OBI:0000272	EFO:0004184	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	OBI:0000552	"Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." []	568059	\N	\N	EFO	2	EFO	protocol	reverse transcription PCR
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0000552	"Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." []	1149540	\N	\N	EFO	3	EFO	planned process	reverse transcription PCR
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	OBI:0000552	"Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." []	1149541	\N	\N	EFO	3	EFO	information entity	reverse transcription PCR
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0000552	"Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." []	2031758	\N	\N	EFO	4	EFO	process	reverse transcription PCR
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000552	"Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." []	2031759	\N	\N	EFO	4	EFO	experimental factor	reverse transcription PCR
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000552	"Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity." []	3182314	\N	\N	EFO	5	EFO	experimental factor	reverse transcription PCR
OBI:0000650	\N	\N	"A differential expression analysis data transformation is a data transformation that has objective differential expression analysis" []	OBI:0000650	"A differential expression analysis data transformation is a data transformation that has objective differential expression analysis" []	73051	\N	\N	EFO	0	EFO	differential expression analysis data transformation	differential expression analysis data transformation
OBI:0200000	OBI:0000650	\N	"A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value." []	OBI:0000650	"A differential expression analysis data transformation is a data transformation that has objective differential expression analysis" []	214137	\N	\N	EFO	1	EFO	data transformation	differential expression analysis data transformation
EFO:0002694	OBI:0200000	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	OBI:0000650	"A differential expression analysis data transformation is a data transformation that has objective differential expression analysis" []	568060	\N	\N	EFO	2	EFO	experimental process	differential expression analysis data transformation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0000650	"A differential expression analysis data transformation is a data transformation that has objective differential expression analysis" []	1149542	\N	\N	EFO	3	EFO	planned process	differential expression analysis data transformation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0000650	"A differential expression analysis data transformation is a data transformation that has objective differential expression analysis" []	2031760	\N	\N	EFO	4	EFO	process	differential expression analysis data transformation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000650	"A differential expression analysis data transformation is a data transformation that has objective differential expression analysis" []	3182315	\N	\N	EFO	5	EFO	experimental factor	differential expression analysis data transformation
OBI:0000697	\N	\N	"Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." []	OBI:0000697	"Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." []	73052	\N	\N	EFO	0	EFO	Helicos sequencing	Helicos sequencing
EFO:0001456	OBI:0000697	\N	"An assay with input DNA" []	OBI:0000697	"Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." []	214138	\N	\N	EFO	1	EFO	DNA assay	Helicos sequencing
EFO:0003740	OBI:0000697	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	OBI:0000697	"Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." []	214139	\N	\N	EFO	1	EFO	assay by sequencer	Helicos sequencing
EFO:0002772	EFO:0001456	\N	"" []	OBI:0000697	"Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." []	568061	\N	\N	EFO	2	EFO	assay by molecule	Helicos sequencing
EFO:0002773	EFO:0003740	\N	"" []	OBI:0000697	"Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." []	568062	\N	\N	EFO	2	EFO	assay by instrument	Helicos sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	OBI:0000697	"Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." []	1149543	\N	\N	EFO	3	EFO	assay	Helicos sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	OBI:0000697	"Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." []	1149544	\N	\N	EFO	3	EFO	assay	Helicos sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	OBI:0000697	"Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." []	2031761	\N	\N	EFO	4	EFO	experimental process	Helicos sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0000697	"Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." []	3182316	\N	\N	EFO	5	EFO	planned process	Helicos sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0000697	"Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." []	4390410	\N	\N	EFO	6	EFO	process	Helicos sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000697	"Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length." []	5409755	\N	\N	EFO	7	EFO	experimental factor	Helicos sequencing
OBI:0000724	\N	\N	"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." []	OBI:0000724	"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." []	73053	\N	\N	EFO	0	EFO	Illumina sequencing	Illumina sequencing
EFO:0001456	OBI:0000724	\N	"An assay with input DNA" []	OBI:0000724	"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." []	214140	\N	\N	EFO	1	EFO	DNA assay	Illumina sequencing
EFO:0003740	OBI:0000724	\N	"an assay that exploits a sequencer as the instrumebt to find the results" []	OBI:0000724	"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." []	214141	\N	\N	EFO	1	EFO	assay by sequencer	Illumina sequencing
EFO:0002772	EFO:0001456	\N	"" []	OBI:0000724	"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." []	568063	\N	\N	EFO	2	EFO	assay by molecule	Illumina sequencing
EFO:0002773	EFO:0003740	\N	"" []	OBI:0000724	"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." []	568064	\N	\N	EFO	2	EFO	assay by instrument	Illumina sequencing
OBI:0000070	EFO:0002772	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	OBI:0000724	"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." []	1149545	\N	\N	EFO	3	EFO	assay	Illumina sequencing
OBI:0000070	EFO:0002773	\N	"An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role)." []	OBI:0000724	"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." []	1149546	\N	\N	EFO	3	EFO	assay	Illumina sequencing
EFO:0002694	OBI:0000070	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	OBI:0000724	"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." []	2031762	\N	\N	EFO	4	EFO	experimental process	Illumina sequencing
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0000724	"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." []	3182317	\N	\N	EFO	5	EFO	planned process	Illumina sequencing
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0000724	"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." []	4390411	\N	\N	EFO	6	EFO	process	Illumina sequencing
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000724	"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." []	5409756	\N	\N	EFO	7	EFO	experimental factor	Illumina sequencing
OBI:0000747	\N	\N	"A material which is collected with the intention of being representative of a greater whole (i.e. a sample)." []	OBI:0000747	"A material which is collected with the intention of being representative of a greater whole (i.e. a sample)." []	73054	\N	\N	EFO	0	EFO	material sample	material sample
OBI:0100051	OBI:0000747	\N	"A material which is obtained and stored for potential use during an investigation." []	OBI:0000747	"A material which is collected with the intention of being representative of a greater whole (i.e. a sample)." []	214142	\N	\N	EFO	1	EFO	specimen	material sample
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0000747	"A material which is collected with the intention of being representative of a greater whole (i.e. a sample)." []	568065	\N	\N	EFO	2	EFO	material entity	material sample
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000747	"A material which is collected with the intention of being representative of a greater whole (i.e. a sample)." []	1149547	\N	\N	EFO	3	EFO	experimental factor	material sample
OBI:0000750	\N	\N	"a directive information entity that is part of a study design. Independent variables are entities whose values are selected to determine its relationship to an observed phenomenon (the dependent variable). In such an experiment, an attempt is made to find evidence that the values of the independent variable determine the values of the dependent variable (that which is being measured). The independent variable can be changed as required, and its values do not represent a problem requiring explanation in an analysis, but are taken simply as given. The dependent variable on the other hand, usually cannot be directly controlled" []	OBI:0000750	"a directive information entity that is part of a study design. Independent variables are entities whose values are selected to determine its relationship to an observed phenomenon (the dependent variable). In such an experiment, an attempt is made to find evidence that the values of the independent variable determine the values of the dependent variable (that which is being measured). The independent variable can be changed as required, and its values do not represent a problem requiring explanation in an analysis, but are taken simply as given. The dependent variable on the other hand, usually cannot be directly controlled" []	73055	\N	\N	EFO	0	EFO	independent variable specification	independent variable specification
IAO:0000030	OBI:0000750	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	OBI:0000750	"a directive information entity that is part of a study design. Independent variables are entities whose values are selected to determine its relationship to an observed phenomenon (the dependent variable). In such an experiment, an attempt is made to find evidence that the values of the independent variable determine the values of the dependent variable (that which is being measured). The independent variable can be changed as required, and its values do not represent a problem requiring explanation in an analysis, but are taken simply as given. The dependent variable on the other hand, usually cannot be directly controlled" []	214143	\N	\N	EFO	1	EFO	information entity	independent variable specification
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000750	"a directive information entity that is part of a study design. Independent variables are entities whose values are selected to determine its relationship to an observed phenomenon (the dependent variable). In such an experiment, an attempt is made to find evidence that the values of the independent variable determine the values of the dependent variable (that which is being measured). The independent variable can be changed as required, and its values do not represent a problem requiring explanation in an analysis, but are taken simply as given. The dependent variable on the other hand, usually cannot be directly controlled" []	568066	\N	\N	EFO	2	EFO	experimental factor	independent variable specification
OBI:0000785	\N	\N	"Controlled variable specification is a part of a study design. They are the entities that could vary, but are kept constant to prevent their influence on the effect of the independent variable on the dependent." []	OBI:0000785	"Controlled variable specification is a part of a study design. They are the entities that could vary, but are kept constant to prevent their influence on the effect of the independent variable on the dependent." []	73056	\N	\N	EFO	0	EFO	controlled variable specification	controlled variable specification
IAO:0000030	OBI:0000785	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	OBI:0000785	"Controlled variable specification is a part of a study design. They are the entities that could vary, but are kept constant to prevent their influence on the effect of the independent variable on the dependent." []	214144	\N	\N	EFO	1	EFO	information entity	controlled variable specification
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000785	"Controlled variable specification is a part of a study design. They are the entities that could vary, but are kept constant to prevent their influence on the effect of the independent variable on the dependent." []	568067	\N	\N	EFO	2	EFO	experimental factor	controlled variable specification
OBI:0000869	\N	\N	"A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3 end are purified." []	OBI:0000869	"A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3 end are purified." []	73057	\N	\N	EFO	0	EFO	polyA RNA	polyA RNA
CHEBI:33697	OBI:0000869	\N	"RNA is a chemical compound which are naturally occurring polyribonucleotides." []	OBI:0000869	"A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3 end are purified." []	214145	\N	\N	EFO	1	EFO	RNA	polyA RNA
CHEBI:37577	CHEBI:33697	\N	"A molecular entity consisting of two or more chemical elements." []	OBI:0000869	"A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3 end are purified." []	568068	\N	\N	EFO	2	EFO	chemical compound	polyA RNA
EFO:0004446	CHEBI:33697	\N	"Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." []	OBI:0000869	"A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3 end are purified." []	568069	\N	\N	EFO	2	EFO	biological macromolecule	polyA RNA
CHEBI:24431	CHEBI:37577	\N	"" []	OBI:0000869	"A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3 end are purified." []	1149548	\N	\N	EFO	3	EFO	chemical entity	polyA RNA
BFO:0000040	EFO:0004446	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0000869	"A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3 end are purified." []	1149549	\N	\N	EFO	3	EFO	material entity	polyA RNA
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0000869	"A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3 end are purified." []	2031763	\N	\N	EFO	4	EFO	material entity	polyA RNA
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000869	"A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3 end are purified." []	3182318	\N	\N	EFO	5	EFO	experimental factor	polyA RNA
OBI:0000922	\N	\N	"A specimen that has been frozen in order to store it." []	OBI:0000922	"A specimen that has been frozen in order to store it." []	73058	\N	\N	EFO	0	EFO	frozen specimen	frozen specimen
OBI:0001472	OBI:0000922	\N	"A specimen for which it is known whether it has been subjected to storage of a specified type." []	OBI:0000922	"A specimen that has been frozen in order to store it." []	214146	\N	\N	EFO	1	EFO	specimen with known storage state	frozen specimen
OBI:0100051	OBI:0001472	\N	"A material which is obtained and stored for potential use during an investigation." []	OBI:0000922	"A specimen that has been frozen in order to store it." []	568070	\N	\N	EFO	2	EFO	specimen	frozen specimen
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0000922	"A specimen that has been frozen in order to store it." []	1149550	\N	\N	EFO	3	EFO	material entity	frozen specimen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000922	"A specimen that has been frozen in order to store it." []	2031765	\N	\N	EFO	4	EFO	experimental factor	frozen specimen
OBI:0000924	\N	\N	"A specimen  that has been modified in order to be able to detect it in future experiments." []	OBI:0000924	"A specimen  that has been modified in order to be able to detect it in future experiments." []	73059	\N	\N	EFO	0	EFO	labeled specimen	labeled specimen
OBI:0100051	OBI:0000924	\N	"A material which is obtained and stored for potential use during an investigation." []	OBI:0000924	"A specimen  that has been modified in order to be able to detect it in future experiments." []	214147	\N	\N	EFO	1	EFO	specimen	labeled specimen
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0000924	"A specimen  that has been modified in order to be able to detect it in future experiments." []	568071	\N	\N	EFO	2	EFO	material entity	labeled specimen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000924	"A specimen  that has been modified in order to be able to detect it in future experiments." []	1149551	\N	\N	EFO	3	EFO	experimental factor	labeled specimen
OBI:0000950	\N	\N	"a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin" []	OBI:0000950	"a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin" []	73060	\N	\N	EFO	0	EFO	paraffin specimen	paraffin specimen
OBI:0001472	OBI:0000950	\N	"A specimen for which it is known whether it has been subjected to storage of a specified type." []	OBI:0000950	"a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin" []	214148	\N	\N	EFO	1	EFO	specimen with known storage state	paraffin specimen
OBI:0100051	OBI:0001472	\N	"A material which is obtained and stored for potential use during an investigation." []	OBI:0000950	"a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin" []	568072	\N	\N	EFO	2	EFO	specimen	paraffin specimen
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0000950	"a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin" []	1149552	\N	\N	EFO	3	EFO	material entity	paraffin specimen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000950	"a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin" []	2031766	\N	\N	EFO	4	EFO	experimental factor	paraffin specimen
OBI:0000971	\N	\N	"a specimen that is output of a specimen creation process used for an investigation without storage" []	OBI:0000971	"a specimen that is output of a specimen creation process used for an investigation without storage" []	73061	\N	\N	EFO	0	EFO	fresh specimen	fresh specimen
OBI:0001472	OBI:0000971	\N	"A specimen for which it is known whether it has been subjected to storage of a specified type." []	OBI:0000971	"a specimen that is output of a specimen creation process used for an investigation without storage" []	214149	\N	\N	EFO	1	EFO	specimen with known storage state	fresh specimen
OBI:0100051	OBI:0001472	\N	"A material which is obtained and stored for potential use during an investigation." []	OBI:0000971	"a specimen that is output of a specimen creation process used for an investigation without storage" []	568073	\N	\N	EFO	2	EFO	specimen	fresh specimen
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0000971	"a specimen that is output of a specimen creation process used for an investigation without storage" []	1149553	\N	\N	EFO	3	EFO	material entity	fresh specimen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000971	"a specimen that is output of a specimen creation process used for an investigation without storage" []	2031767	\N	\N	EFO	4	EFO	experimental factor	fresh specimen
OBI:0000981	\N	\N	"a specimen that is output of a process that cell culture inoculated into agar for long term storage" []	OBI:0000981	"a specimen that is output of a process that cell culture inoculated into agar for long term storage" []	73062	\N	\N	EFO	0	EFO	agar stab specimen	agar stab specimen
OBI:0001472	OBI:0000981	\N	"A specimen for which it is known whether it has been subjected to storage of a specified type." []	OBI:0000981	"a specimen that is output of a process that cell culture inoculated into agar for long term storage" []	214150	\N	\N	EFO	1	EFO	specimen with known storage state	agar stab specimen
OBI:0100051	OBI:0001472	\N	"A material which is obtained and stored for potential use during an investigation." []	OBI:0000981	"a specimen that is output of a process that cell culture inoculated into agar for long term storage" []	568074	\N	\N	EFO	2	EFO	specimen	agar stab specimen
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0000981	"a specimen that is output of a process that cell culture inoculated into agar for long term storage" []	1149554	\N	\N	EFO	3	EFO	material entity	agar stab specimen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0000981	"a specimen that is output of a process that cell culture inoculated into agar for long term storage" []	2031768	\N	\N	EFO	4	EFO	experimental factor	agar stab specimen
OBI:0001140	\N	\N	"A reference substance role that is borne by a material entity with a known amount which is mixed into the evaluant of assays for quality control or data normalization purposes." []	OBI:0001140	"A reference substance role that is borne by a material entity with a known amount which is mixed into the evaluant of assays for quality control or data normalization purposes." []	73063	\N	\N	EFO	0	EFO	spike-in quality control role	spike-in quality control role
BFO:0000023	OBI:0001140	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	OBI:0001140	"A reference substance role that is borne by a material entity with a known amount which is mixed into the evaluant of assays for quality control or data normalization purposes." []	214151	\N	\N	EFO	1	EFO	role	spike-in quality control role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	OBI:0001140	"A reference substance role that is borne by a material entity with a known amount which is mixed into the evaluant of assays for quality control or data normalization purposes." []	568075	\N	\N	EFO	2	EFO	material property	spike-in quality control role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0001140	"A reference substance role that is borne by a material entity with a known amount which is mixed into the evaluant of assays for quality control or data normalization purposes." []	1149555	\N	\N	EFO	3	EFO	experimental factor	spike-in quality control role
OBI:0001142	\N	\N	"A reference substance role that is borne by a material entity used in a dye swap design experiment for quality control or data normalization purposes" []	OBI:0001142	"A reference substance role that is borne by a material entity used in a dye swap design experiment for quality control or data normalization purposes" []	73064	\N	\N	EFO	0	EFO	dye swap quality control role	dye swap quality control role
EFO:0004107	OBI:0001142	\N	"Quality control type permitted in Atlas" []	OBI:0001142	"A reference substance role that is borne by a material entity used in a dye swap design experiment for quality control or data normalization purposes" []	214152	\N	\N	EFO	1	EFO	Atlas Quality Control type	dye swap quality control role
BFO:0000023	EFO:0004107	\N	"A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role).  For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease." []	OBI:0001142	"A reference substance role that is borne by a material entity used in a dye swap design experiment for quality control or data normalization purposes" []	568076	\N	\N	EFO	2	EFO	role	dye swap quality control role
BFO:0000020	BFO:0000023	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	OBI:0001142	"A reference substance role that is borne by a material entity used in a dye swap design experiment for quality control or data normalization purposes" []	1149556	\N	\N	EFO	3	EFO	material property	dye swap quality control role
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0001142	"A reference substance role that is borne by a material entity used in a dye swap design experiment for quality control or data normalization purposes" []	2031769	\N	\N	EFO	4	EFO	experimental factor	dye swap quality control role
OBI:0001162	\N	\N	"A study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results." []	OBI:0001162	"A study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results." []	73065	\N	\N	EFO	0	EFO	validation by reverse transcription PCR design	validation by reverse transcription PCR design
EFO:0004669	OBI:0001162	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	OBI:0001162	"A study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results." []	214153	\N	\N	EFO	1	EFO	methodological variation design	validation by reverse transcription PCR design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	OBI:0001162	"A study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results." []	568077	\N	\N	EFO	2	EFO	study design	validation by reverse transcription PCR design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	OBI:0001162	"A study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results." []	1149557	\N	\N	EFO	3	EFO	protocol	validation by reverse transcription PCR design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	OBI:0001162	"A study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results." []	2031770	\N	\N	EFO	4	EFO	information entity	validation by reverse transcription PCR design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0001162	"A study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results." []	3182319	\N	\N	EFO	5	EFO	experimental factor	validation by reverse transcription PCR design
OBI:0001166	\N	\N	"A study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results." []	OBI:0001166	"A study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results." []	73066	\N	\N	EFO	0	EFO	validation by real time PCR design	validation by real time PCR design
EFO:0004669	OBI:0001166	\N	"A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships." []	OBI:0001166	"A study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results." []	214154	\N	\N	EFO	1	EFO	methodological variation design	validation by real time PCR design
EFO:0001426	EFO:0004669	\N	"A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a  set of protocols (which may specify how and what kinds of data will be gathered)." []	OBI:0001166	"A study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results." []	568078	\N	\N	EFO	2	EFO	study design	validation by real time PCR design
OBI:0000272	EFO:0001426	\N	"A protocol is an information entity which is a set of instructions that describe an how an experiment is done." []	OBI:0001166	"A study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results." []	1149558	\N	\N	EFO	3	EFO	protocol	validation by real time PCR design
IAO:0000030	OBI:0000272	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	OBI:0001166	"A study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results." []	2031771	\N	\N	EFO	4	EFO	information entity	validation by real time PCR design
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0001166	"A study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results." []	3182320	\N	\N	EFO	5	EFO	experimental factor	validation by real time PCR design
OBI:0001442	\N	\N	"A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant." []	OBI:0001442	"A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant." []	73067	\N	\N	EFO	0	EFO	p-value	p-value
OBI:0000071	OBI:0001442	\N	"A data item which is used to indicate the degree of uncertainty about a measurement." []	OBI:0001442	"A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant." []	214155	\N	\N	EFO	1	EFO	quantitative confidence value	p-value
IAO:0000027	OBI:0000071	\N	"Data is an information entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements." []	OBI:0001442	"A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant." []	568079	\N	\N	EFO	2	EFO	data item	p-value
IAO:0000030	IAO:0000027	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	OBI:0001442	"A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant." []	1149559	\N	\N	EFO	3	EFO	information entity	p-value
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0001442	"A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant." []	2031772	\N	\N	EFO	4	EFO	experimental factor	p-value
OBI:0001468	\N	\N	"A specimen primarily composed of cells collected from a multicellular organism or a cell culture" []	OBI:0001468	"A specimen primarily composed of cells collected from a multicellular organism or a cell culture" []	73068	\N	\N	EFO	0	EFO	cell specimen	cell specimen
OBI:0100051	OBI:0001468	\N	"A material which is obtained and stored for potential use during an investigation." []	OBI:0001468	"A specimen primarily composed of cells collected from a multicellular organism or a cell culture" []	214156	\N	\N	EFO	1	EFO	specimen	cell specimen
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0001468	"A specimen primarily composed of cells collected from a multicellular organism or a cell culture" []	568080	\N	\N	EFO	2	EFO	material entity	cell specimen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0001468	"A specimen primarily composed of cells collected from a multicellular organism or a cell culture" []	1149560	\N	\N	EFO	3	EFO	experimental factor	cell specimen
OBI:0001472	\N	\N	"A specimen for which it is known whether it has been subjected to storage of a specified type." []	OBI:0001472	"A specimen for which it is known whether it has been subjected to storage of a specified type." []	73069	\N	\N	EFO	0	EFO	specimen with known storage state	specimen with known storage state
OBI:0100051	OBI:0001472	\N	"A material which is obtained and stored for potential use during an investigation." []	OBI:0001472	"A specimen for which it is known whether it has been subjected to storage of a specified type." []	214157	\N	\N	EFO	1	EFO	specimen	specimen with known storage state
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0001472	"A specimen for which it is known whether it has been subjected to storage of a specified type." []	568081	\N	\N	EFO	2	EFO	material entity	specimen with known storage state
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0001472	"A specimen for which it is known whether it has been subjected to storage of a specified type." []	1149561	\N	\N	EFO	3	EFO	experimental factor	specimen with known storage state
OBI:0001620	\N	\N	"A measurement that is the measure of the latitude coordinate of a site." []	OBI:0001620	"A measurement that is the measure of the latitude coordinate of a site." []	73070	\N	\N	EFO	0	EFO	latitude	latitude
EFO:0001444	OBI:0001620	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	OBI:0001620	"A measurement that is the measure of the latitude coordinate of a site." []	214158	\N	\N	EFO	1	EFO	measurement	latitude
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	OBI:0001620	"A measurement that is the measure of the latitude coordinate of a site." []	568082	\N	\N	EFO	2	EFO	information entity	latitude
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0001620	"A measurement that is the measure of the latitude coordinate of a site." []	1149562	\N	\N	EFO	3	EFO	experimental factor	latitude
OBI:0001621	\N	\N	"A measurement that is the measure of the longitude coordinate of a site." []	OBI:0001621	"A measurement that is the measure of the longitude coordinate of a site." []	73071	\N	\N	EFO	0	EFO	longitude	longitude
EFO:0001444	OBI:0001621	\N	"A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument." []	OBI:0001621	"A measurement that is the measure of the longitude coordinate of a site." []	214159	\N	\N	EFO	1	EFO	measurement	longitude
IAO:0000030	EFO:0001444	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	OBI:0001621	"A measurement that is the measure of the longitude coordinate of a site." []	568083	\N	\N	EFO	2	EFO	information entity	longitude
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0001621	"A measurement that is the measure of the longitude coordinate of a site." []	1149563	\N	\N	EFO	3	EFO	experimental factor	longitude
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	OBI:0100026	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	73072	\N	\N	EFO	0	EFO	organism	organism
BFO:0000040	OBI:0100026	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0100026	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	214160	\N	\N	EFO	1	EFO	material entity	organism
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0100026	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	568084	\N	\N	EFO	2	EFO	experimental factor	organism
OBI:0100051	\N	\N	"A material which is obtained and stored for potential use during an investigation." []	OBI:0100051	"A material which is obtained and stored for potential use during an investigation." []	73073	\N	\N	EFO	0	EFO	specimen	specimen
BFO:0000040	OBI:0100051	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0100051	"A material which is obtained and stored for potential use during an investigation." []	214161	\N	\N	EFO	1	EFO	material entity	specimen
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0100051	"A material which is obtained and stored for potential use during an investigation." []	568085	\N	\N	EFO	2	EFO	experimental factor	specimen
OBI:0200000	\N	\N	"A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value." []	OBI:0200000	"A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value." []	73074	\N	\N	EFO	0	EFO	data transformation	data transformation
EFO:0002694	OBI:0200000	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	OBI:0200000	"A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value." []	214162	\N	\N	EFO	1	EFO	experimental process	data transformation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0200000	"A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value." []	568086	\N	\N	EFO	2	EFO	planned process	data transformation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0200000	"A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value." []	1149564	\N	\N	EFO	3	EFO	process	data transformation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0200000	"A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value." []	2031773	\N	\N	EFO	4	EFO	experimental factor	data transformation
OBI:0200006	\N	\N	"A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation." []	OBI:0200006	"A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation." []	73075	\N	\N	EFO	0	EFO	biexponential transformation	biexponential transformation
OBI:0200169	OBI:0200006	\N	"A normalization data transformation is a data transformation that has objective normalization." []	OBI:0200006	"A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation." []	214163	\N	\N	EFO	1	EFO	normalization data transformation	biexponential transformation
OBI:0200000	OBI:0200169	\N	"A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value." []	OBI:0200006	"A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation." []	568087	\N	\N	EFO	2	EFO	data transformation	biexponential transformation
EFO:0002694	OBI:0200000	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	OBI:0200006	"A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation." []	1149565	\N	\N	EFO	3	EFO	experimental process	biexponential transformation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0200006	"A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation." []	2031774	\N	\N	EFO	4	EFO	planned process	biexponential transformation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0200006	"A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation." []	3182321	\N	\N	EFO	5	EFO	process	biexponential transformation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0200006	"A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation." []	4390412	\N	\N	EFO	6	EFO	experimental factor	biexponential transformation
OBI:0200071	\N	\N	"A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves." []	OBI:0200071	"A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves." []	73076	\N	\N	EFO	0	EFO	loess transformation	loess transformation
OBI:0200169	OBI:0200071	\N	"A normalization data transformation is a data transformation that has objective normalization." []	OBI:0200071	"A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves." []	214164	\N	\N	EFO	1	EFO	normalization data transformation	loess transformation
OBI:0200000	OBI:0200169	\N	"A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value." []	OBI:0200071	"A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves." []	568088	\N	\N	EFO	2	EFO	data transformation	loess transformation
EFO:0002694	OBI:0200000	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	OBI:0200071	"A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves." []	1149566	\N	\N	EFO	3	EFO	experimental process	loess transformation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0200071	"A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves." []	2031775	\N	\N	EFO	4	EFO	planned process	loess transformation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0200071	"A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves." []	3182322	\N	\N	EFO	5	EFO	process	loess transformation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0200071	"A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves." []	4390413	\N	\N	EFO	6	EFO	experimental factor	loess transformation
OBI:0200169	\N	\N	"A normalization data transformation is a data transformation that has objective normalization." []	OBI:0200169	"A normalization data transformation is a data transformation that has objective normalization." []	73077	\N	\N	EFO	0	EFO	normalization data transformation	normalization data transformation
OBI:0200000	OBI:0200169	\N	"A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value." []	OBI:0200169	"A normalization data transformation is a data transformation that has objective normalization." []	214165	\N	\N	EFO	1	EFO	data transformation	normalization data transformation
EFO:0002694	OBI:0200000	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	OBI:0200169	"A normalization data transformation is a data transformation that has objective normalization." []	568089	\N	\N	EFO	2	EFO	experimental process	normalization data transformation
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0200169	"A normalization data transformation is a data transformation that has objective normalization." []	1149567	\N	\N	EFO	3	EFO	planned process	normalization data transformation
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0200169	"A normalization data transformation is a data transformation that has objective normalization." []	2031776	\N	\N	EFO	4	EFO	process	normalization data transformation
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0200169	"A normalization data transformation is a data transformation that has objective normalization." []	3182323	\N	\N	EFO	5	EFO	experimental factor	normalization data transformation
OBI:0302903	\N	\N	"A process by which totally or partially complementary, single-stranded nucleic acids are  combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity." []	OBI:0302903	"A process by which totally or partially complementary, single-stranded nucleic acids are  combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity." []	73078	\N	\N	EFO	0	EFO	nucleic acid hybridization	nucleic acid hybridization
EFO:0002694	OBI:0302903	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	OBI:0302903	"A process by which totally or partially complementary, single-stranded nucleic acids are  combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity." []	214166	\N	\N	EFO	1	EFO	experimental process	nucleic acid hybridization
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0302903	"A process by which totally or partially complementary, single-stranded nucleic acids are  combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity." []	568090	\N	\N	EFO	2	EFO	planned process	nucleic acid hybridization
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0302903	"A process by which totally or partially complementary, single-stranded nucleic acids are  combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity." []	1149568	\N	\N	EFO	3	EFO	process	nucleic acid hybridization
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0302903	"A process by which totally or partially complementary, single-stranded nucleic acids are  combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity." []	2031777	\N	\N	EFO	4	EFO	experimental factor	nucleic acid hybridization
OBI:0400103	\N	\N	"A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences." []	OBI:0400103	"A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences." []	73079	\N	\N	EFO	0	EFO	DNA sequencer	DNA sequencer
EFO:0003739	OBI:0400103	\N	"" []	OBI:0400103	"A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences." []	214167	\N	\N	EFO	1	EFO	sequencer	DNA sequencer
EFO:0000548	EFO:0003739	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400103	"A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences." []	568091	\N	\N	EFO	2	EFO	instrument	DNA sequencer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400103	"A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences." []	1149569	\N	\N	EFO	3	EFO	material entity	DNA sequencer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400103	"A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences." []	2031778	\N	\N	EFO	4	EFO	experimental factor	DNA sequencer
OBI:0400104	\N	\N	"A processed material which acquires images of fluorescence (induced with lasers) from labeled molecules on the surface of the microarray chip" []	OBI:0400104	"A processed material which acquires images of fluorescence (induced with lasers) from labeled molecules on the surface of the microarray chip" []	73080	\N	\N	EFO	0	EFO	array scanner	array scanner
EFO:0000548	OBI:0400104	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400104	"A processed material which acquires images of fluorescence (induced with lasers) from labeled molecules on the surface of the microarray chip" []	214168	\N	\N	EFO	1	EFO	instrument	array scanner
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400104	"A processed material which acquires images of fluorescence (induced with lasers) from labeled molecules on the surface of the microarray chip" []	568092	\N	\N	EFO	2	EFO	material entity	array scanner
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400104	"A processed material which acquires images of fluorescence (induced with lasers) from labeled molecules on the surface of the microarray chip" []	1149570	\N	\N	EFO	3	EFO	experimental factor	array scanner
OBI:0400105	\N	\N	"An arrayer is an instrument which deposits biological material onto a substrate in a defined pattern." []	OBI:0400105	"An arrayer is an instrument which deposits biological material onto a substrate in a defined pattern." []	73081	\N	\N	EFO	0	EFO	arrayer	arrayer
EFO:0000548	OBI:0400105	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400105	"An arrayer is an instrument which deposits biological material onto a substrate in a defined pattern." []	214169	\N	\N	EFO	1	EFO	instrument	arrayer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400105	"An arrayer is an instrument which deposits biological material onto a substrate in a defined pattern." []	568093	\N	\N	EFO	2	EFO	material entity	arrayer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400105	"An arrayer is an instrument which deposits biological material onto a substrate in a defined pattern." []	1149571	\N	\N	EFO	3	EFO	experimental factor	arrayer
OBI:0400106	\N	\N	"A centrifuge is an instrument, generally driven by a motor, that puts an object in rotation around a fixed axis, applying force perpendicular to the axis. The centrifuge works using the sedimentation principle, where the centripetal acceleration is used to separate substances of greater and lesser density." []	OBI:0400106	"A centrifuge is an instrument, generally driven by a motor, that puts an object in rotation around a fixed axis, applying force perpendicular to the axis. The centrifuge works using the sedimentation principle, where the centripetal acceleration is used to separate substances of greater and lesser density." []	73082	\N	\N	EFO	0	EFO	centrifuge	centrifuge
EFO:0000548	OBI:0400106	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400106	"A centrifuge is an instrument, generally driven by a motor, that puts an object in rotation around a fixed axis, applying force perpendicular to the axis. The centrifuge works using the sedimentation principle, where the centripetal acceleration is used to separate substances of greater and lesser density." []	214170	\N	\N	EFO	1	EFO	instrument	centrifuge
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400106	"A centrifuge is an instrument, generally driven by a motor, that puts an object in rotation around a fixed axis, applying force perpendicular to the axis. The centrifuge works using the sedimentation principle, where the centripetal acceleration is used to separate substances of greater and lesser density." []	568094	\N	\N	EFO	2	EFO	material entity	centrifuge
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400106	"A centrifuge is an instrument, generally driven by a motor, that puts an object in rotation around a fixed axis, applying force perpendicular to the axis. The centrifuge works using the sedimentation principle, where the centripetal acceleration is used to separate substances of greater and lesser density." []	1149572	\N	\N	EFO	3	EFO	experimental factor	centrifuge
OBI:0400107	\N	\N	"A computer is an instrument which manipulates (stores, retrieves, and processes) data according to a list of instructions." []	OBI:0400107	"A computer is an instrument which manipulates (stores, retrieves, and processes) data according to a list of instructions." []	73083	\N	\N	EFO	0	EFO	computer	computer
EFO:0000548	OBI:0400107	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400107	"A computer is an instrument which manipulates (stores, retrieves, and processes) data according to a list of instructions." []	214171	\N	\N	EFO	1	EFO	instrument	computer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400107	"A computer is an instrument which manipulates (stores, retrieves, and processes) data according to a list of instructions." []	568095	\N	\N	EFO	2	EFO	material entity	computer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400107	"A computer is an instrument which manipulates (stores, retrieves, and processes) data according to a list of instructions." []	1149573	\N	\N	EFO	3	EFO	experimental factor	computer
OBI:0400108	\N	\N	"A heating block is an instrument or part of an instrument which raises or maintains the temperature of a sample to a defined constant temperature during certain parts of an assay" []	OBI:0400108	"A heating block is an instrument or part of an instrument which raises or maintains the temperature of a sample to a defined constant temperature during certain parts of an assay" []	73084	\N	\N	EFO	0	EFO	heating block	heating block
EFO:0000548	OBI:0400108	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400108	"A heating block is an instrument or part of an instrument which raises or maintains the temperature of a sample to a defined constant temperature during certain parts of an assay" []	214172	\N	\N	EFO	1	EFO	instrument	heating block
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400108	"A heating block is an instrument or part of an instrument which raises or maintains the temperature of a sample to a defined constant temperature during certain parts of an assay" []	568096	\N	\N	EFO	2	EFO	material entity	heating block
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400108	"A heating block is an instrument or part of an instrument which raises or maintains the temperature of a sample to a defined constant temperature during certain parts of an assay" []	1149574	\N	\N	EFO	3	EFO	experimental factor	heating block
OBI:0400109	\N	\N	"A homogenizer is an instrument for the homogenization of various types of material, such as tissue, plant, food, soil, and many others." []	OBI:0400109	"A homogenizer is an instrument for the homogenization of various types of material, such as tissue, plant, food, soil, and many others." []	73085	\N	\N	EFO	0	EFO	homogenizer	homogenizer
EFO:0000548	OBI:0400109	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400109	"A homogenizer is an instrument for the homogenization of various types of material, such as tissue, plant, food, soil, and many others." []	214173	\N	\N	EFO	1	EFO	instrument	homogenizer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400109	"A homogenizer is an instrument for the homogenization of various types of material, such as tissue, plant, food, soil, and many others." []	568097	\N	\N	EFO	2	EFO	material entity	homogenizer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400109	"A homogenizer is an instrument for the homogenization of various types of material, such as tissue, plant, food, soil, and many others." []	1149575	\N	\N	EFO	3	EFO	experimental factor	homogenizer
OBI:0400110	\N	\N	"A device which is used to maintain constant contact of a liquid on an array.  This can be either a glass vial or slide." []	OBI:0400110	"A device which is used to maintain constant contact of a liquid on an array.  This can be either a glass vial or slide." []	73086	\N	\N	EFO	0	EFO	hybridization chamber	hybridization chamber
EFO:0000548	OBI:0400110	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400110	"A device which is used to maintain constant contact of a liquid on an array.  This can be either a glass vial or slide." []	214174	\N	\N	EFO	1	EFO	instrument	hybridization chamber
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400110	"A device which is used to maintain constant contact of a liquid on an array.  This can be either a glass vial or slide." []	568098	\N	\N	EFO	2	EFO	material entity	hybridization chamber
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400110	"A device which is used to maintain constant contact of a liquid on an array.  This can be either a glass vial or slide." []	1149576	\N	\N	EFO	3	EFO	experimental factor	hybridization chamber
OBI:0400111	\N	\N	"An instrument which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature." []	OBI:0400111	"An instrument which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature." []	73087	\N	\N	EFO	0	EFO	hybridization station	hybridization station
EFO:0000548	OBI:0400111	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400111	"An instrument which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature." []	214175	\N	\N	EFO	1	EFO	instrument	hybridization station
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400111	"An instrument which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature." []	568099	\N	\N	EFO	2	EFO	material entity	hybridization station
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400111	"An instrument which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature." []	1149577	\N	\N	EFO	3	EFO	experimental factor	hybridization station
OBI:0400112	\N	\N	"A liquid_handler is an instrument used for automated liquid transfer and handling." []	OBI:0400112	"A liquid_handler is an instrument used for automated liquid transfer and handling." []	73088	\N	\N	EFO	0	EFO	liquid handler	liquid handler
EFO:0000548	OBI:0400112	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400112	"A liquid_handler is an instrument used for automated liquid transfer and handling." []	214176	\N	\N	EFO	1	EFO	instrument	liquid handler
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400112	"A liquid_handler is an instrument used for automated liquid transfer and handling." []	568100	\N	\N	EFO	2	EFO	material entity	liquid handler
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400112	"A liquid_handler is an instrument used for automated liquid transfer and handling." []	1149578	\N	\N	EFO	3	EFO	experimental factor	liquid handler
OBI:0400113	\N	\N	"An instrument used to chemically synthesize oligonucleotides." []	OBI:0400113	"An instrument used to chemically synthesize oligonucleotides." []	73089	\N	\N	EFO	0	EFO	oligonucleotide synthesizer	oligonucleotide synthesizer
EFO:0000548	OBI:0400113	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400113	"An instrument used to chemically synthesize oligonucleotides." []	214177	\N	\N	EFO	1	EFO	instrument	oligonucleotide synthesizer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400113	"An instrument used to chemically synthesize oligonucleotides." []	568101	\N	\N	EFO	2	EFO	material entity	oligonucleotide synthesizer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400113	"An instrument used to chemically synthesize oligonucleotides." []	1149579	\N	\N	EFO	3	EFO	experimental factor	oligonucleotide synthesizer
OBI:0400114	\N	\N	"An instrument that converts a variable electrical current to mechanical vibration of a metallic probe. The instrument is used for the lysis of cells, the mixing of compounds or solutions, or to create emulsions." []	OBI:0400114	"An instrument that converts a variable electrical current to mechanical vibration of a metallic probe. The instrument is used for the lysis of cells, the mixing of compounds or solutions, or to create emulsions." []	73090	\N	\N	EFO	0	EFO	sonicator	sonicator
EFO:0000548	OBI:0400114	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400114	"An instrument that converts a variable electrical current to mechanical vibration of a metallic probe. The instrument is used for the lysis of cells, the mixing of compounds or solutions, or to create emulsions." []	214178	\N	\N	EFO	1	EFO	instrument	sonicator
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400114	"An instrument that converts a variable electrical current to mechanical vibration of a metallic probe. The instrument is used for the lysis of cells, the mixing of compounds or solutions, or to create emulsions." []	568102	\N	\N	EFO	2	EFO	material entity	sonicator
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400114	"An instrument that converts a variable electrical current to mechanical vibration of a metallic probe. The instrument is used for the lysis of cells, the mixing of compounds or solutions, or to create emulsions." []	1149580	\N	\N	EFO	3	EFO	experimental factor	sonicator
OBI:0400115	\N	\N	"A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance." []	OBI:0400115	"A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance." []	73091	\N	\N	EFO	0	EFO	spectrophotometer	spectrophotometer
EFO:0000548	OBI:0400115	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400115	"A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance." []	214179	\N	\N	EFO	1	EFO	instrument	spectrophotometer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400115	"A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance." []	568103	\N	\N	EFO	2	EFO	material entity	spectrophotometer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400115	"A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance." []	1149581	\N	\N	EFO	3	EFO	experimental factor	spectrophotometer
OBI:0400116	\N	\N	"An instrument that is capable of repeatedly altering and maintaining specific temperatures for defined periods of time." []	OBI:0400116	"An instrument that is capable of repeatedly altering and maintaining specific temperatures for defined periods of time." []	73092	\N	\N	EFO	0	EFO	thermal cycler	thermal cycler
EFO:0000548	OBI:0400116	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400116	"An instrument that is capable of repeatedly altering and maintaining specific temperatures for defined periods of time." []	214180	\N	\N	EFO	1	EFO	instrument	thermal cycler
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400116	"An instrument that is capable of repeatedly altering and maintaining specific temperatures for defined periods of time." []	568104	\N	\N	EFO	2	EFO	material entity	thermal cycler
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400116	"An instrument that is capable of repeatedly altering and maintaining specific temperatures for defined periods of time." []	1149582	\N	\N	EFO	3	EFO	experimental factor	thermal cycler
OBI:0400117	\N	\N	"An instrument which removes liquid by the application of negative pressure,  i.e. vacuum." []	OBI:0400117	"An instrument which removes liquid by the application of negative pressure,  i.e. vacuum." []	73093	\N	\N	EFO	0	EFO	vacuum dryer	vacuum dryer
EFO:0000548	OBI:0400117	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400117	"An instrument which removes liquid by the application of negative pressure,  i.e. vacuum." []	214181	\N	\N	EFO	1	EFO	instrument	vacuum dryer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400117	"An instrument which removes liquid by the application of negative pressure,  i.e. vacuum." []	568105	\N	\N	EFO	2	EFO	material entity	vacuum dryer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400117	"An instrument which removes liquid by the application of negative pressure,  i.e. vacuum." []	1149583	\N	\N	EFO	3	EFO	experimental factor	vacuum dryer
OBI:0400118	\N	\N	"A vortexer is an instrument that mixes small vials of liquid by creating a rotation of the liquid around its own center. It consists of an electric motor with the drive shaft oriented vertically and attached to a cupped rubber piece mounted slightly off-center. As the motor runs the rubber piece oscillates rapidly in a circular motion. When a test tube or other appropriate container is pressed into the rubber cup (or touched to its edge) the motion is transmitted to the liquid inside and a vortex is created." []	OBI:0400118	"A vortexer is an instrument that mixes small vials of liquid by creating a rotation of the liquid around its own center. It consists of an electric motor with the drive shaft oriented vertically and attached to a cupped rubber piece mounted slightly off-center. As the motor runs the rubber piece oscillates rapidly in a circular motion. When a test tube or other appropriate container is pressed into the rubber cup (or touched to its edge) the motion is transmitted to the liquid inside and a vortex is created." []	73094	\N	\N	EFO	0	EFO	vortexer	vortexer
EFO:0000548	OBI:0400118	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400118	"A vortexer is an instrument that mixes small vials of liquid by creating a rotation of the liquid around its own center. It consists of an electric motor with the drive shaft oriented vertically and attached to a cupped rubber piece mounted slightly off-center. As the motor runs the rubber piece oscillates rapidly in a circular motion. When a test tube or other appropriate container is pressed into the rubber cup (or touched to its edge) the motion is transmitted to the liquid inside and a vortex is created." []	214182	\N	\N	EFO	1	EFO	instrument	vortexer
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400118	"A vortexer is an instrument that mixes small vials of liquid by creating a rotation of the liquid around its own center. It consists of an electric motor with the drive shaft oriented vertically and attached to a cupped rubber piece mounted slightly off-center. As the motor runs the rubber piece oscillates rapidly in a circular motion. When a test tube or other appropriate container is pressed into the rubber cup (or touched to its edge) the motion is transmitted to the liquid inside and a vortex is created." []	568106	\N	\N	EFO	2	EFO	material entity	vortexer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400118	"A vortexer is an instrument that mixes small vials of liquid by creating a rotation of the liquid around its own center. It consists of an electric motor with the drive shaft oriented vertically and attached to a cupped rubber piece mounted slightly off-center. As the motor runs the rubber piece oscillates rapidly in a circular motion. When a test tube or other appropriate container is pressed into the rubber cup (or touched to its edge) the motion is transmitted to the liquid inside and a vortex is created." []	1149584	\N	\N	EFO	3	EFO	experimental factor	vortexer
OBI:0400155	\N	\N	"A water bath is a temperature control bath in which a water acts as contact medium enabling temperature transfer from the heating element or cooling element to the sample. The temperature can be controlled in the 0 to 100 degree centigrade range (under normal pressure)." []	OBI:0400155	"A water bath is a temperature control bath in which a water acts as contact medium enabling temperature transfer from the heating element or cooling element to the sample. The temperature can be controlled in the 0 to 100 degree centigrade range (under normal pressure)." []	73095	\N	\N	EFO	0	EFO	water bath	water bath
EFO:0000548	OBI:0400155	\N	"An instrument is a device which provides a mechanical or electronic function." []	OBI:0400155	"A water bath is a temperature control bath in which a water acts as contact medium enabling temperature transfer from the heating element or cooling element to the sample. The temperature can be controlled in the 0 to 100 degree centigrade range (under normal pressure)." []	214183	\N	\N	EFO	1	EFO	instrument	water bath
BFO:0000040	EFO:0000548	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:0400155	"A water bath is a temperature control bath in which a water acts as contact medium enabling temperature transfer from the heating element or cooling element to the sample. The temperature can be controlled in the 0 to 100 degree centigrade range (under normal pressure)." []	568107	\N	\N	EFO	2	EFO	material entity	water bath
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0400155	"A water bath is a temperature control bath in which a water acts as contact medium enabling temperature transfer from the heating element or cooling element to the sample. The temperature can be controlled in the 0 to 100 degree centigrade range (under normal pressure)." []	1149585	\N	\N	EFO	3	EFO	experimental factor	water bath
OBI:0600002	\N	\N	"Determination of the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus." []	OBI:0600002	"Determination of the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus." []	73096	\N	\N	EFO	0	EFO	tumor grading	tumor grading
EFO:0000410	OBI:0600002	\N	"The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer" []	OBI:0600002	"Determination of the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus." []	214184	\N	\N	EFO	1	EFO	disease staging	tumor grading
BFO:0000016	EFO:0000410	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	OBI:0600002	"Determination of the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus." []	568108	\N	\N	EFO	2	EFO	disposition	tumor grading
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	OBI:0600002	"Determination of the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus." []	1149586	\N	\N	EFO	3	EFO	material property	tumor grading
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0600002	"Determination of the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus." []	2031779	\N	\N	EFO	4	EFO	experimental factor	tumor grading
OBI:0600015	\N	\N	"Group assignment is a process in which an organism is assigned to a particular group or cohort, such as assignment to a treated and control group." []	OBI:0600015	"Group assignment is a process in which an organism is assigned to a particular group or cohort, such as assignment to a treated and control group." []	73097	\N	\N	EFO	0	EFO	group assignment	group assignment
EFO:0002694	OBI:0600015	\N	"A process performed as part of an experiment or wider study, i.e. intentionally designed." []	OBI:0600015	"Group assignment is a process in which an organism is assigned to a particular group or cohort, such as assignment to a treated and control group." []	214185	\N	\N	EFO	1	EFO	experimental process	group assignment
EFO:0004542	EFO:0002694	\N	"A processual entity that realizes a plan which is the concretization of a plan specification." []	OBI:0600015	"Group assignment is a process in which an organism is assigned to a particular group or cohort, such as assignment to a treated and control group." []	568109	\N	\N	EFO	2	EFO	planned process	group assignment
BFO:0000007	EFO:0004542	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	OBI:0600015	"Group assignment is a process in which an organism is assigned to a particular group or cohort, such as assignment to a treated and control group." []	1149587	\N	\N	EFO	3	EFO	process	group assignment
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:0600015	"Group assignment is a process in which an organism is assigned to a particular group or cohort, such as assignment to a treated and control group." []	2031780	\N	\N	EFO	4	EFO	experimental factor	group assignment
OBI:1000023	\N	\N	"The clear fluid above a sediment or precipitate of a cell culture." []	OBI:1000023	"The clear fluid above a sediment or precipitate of a cell culture." []	73098	\N	\N	EFO	0	EFO	cell culture supernatant	cell culture supernatant
BTO:0000214	OBI:1000023	\N	"Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains." []	OBI:1000023	"The clear fluid above a sediment or precipitate of a cell culture." []	214186	\N	\N	EFO	1	EFO	cell culture	cell culture supernatant
BFO:0000040	BTO:0000214	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	OBI:1000023	"The clear fluid above a sediment or precipitate of a cell culture." []	568110	\N	\N	EFO	2	EFO	material entity	cell culture supernatant
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	OBI:1000023	"The clear fluid above a sediment or precipitate of a cell culture." []	1149588	\N	\N	EFO	3	EFO	experimental factor	cell culture supernatant
OBI:1110021	\N	\N	"The detrimental process in which an infectious agent colonizes or replicates in a host environment" []	OBI:1110021	"The detrimental process in which an infectious agent colonizes or replicates in a host environment" []	73099	\N	\N	EFO	0	EFO	infect	infect
OBI:1110122	OBI:1110021	\N	"Abnormal, harmful processes caused by or associated with a disease" []	OBI:1110021	"The detrimental process in which an infectious agent colonizes or replicates in a host environment" []	214187	\N	\N	EFO	1	EFO	pathological process	infect
OBI:1110122	\N	\N	"Abnormal, harmful processes caused by or associated with a disease" []	OBI:1110122	"Abnormal, harmful processes caused by or associated with a disease" []	73100	\N	\N	EFO	0	EFO	pathological process	pathological process
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	OBI:1110122	"Abnormal, harmful processes caused by or associated with a disease" []	195776	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	pathological process
OGMS:0000063	\N	\N	"" []	OGMS:0000063	"" []	73101	\N	\N	EFO	0	EFO	disease course	disease course
GO:0008150	\N	\N	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete]	OGMS:0000063	"" []	195777	\N	goslim_aspergillus,goslim_candida,goslim_chembl,goslim_generic,goslim_metagenomics,goslim_pir,goslim_plant,goslim_pombe,goslim_yeast,gosubset_prok	EFO	0	EFO	biological_process	disease course
BFO:0000052	\N	\N	"" []	OGMS:0000063	"" []	195778	\N	\N	EFO	0	EFO	processual entity	disease course
Orphanet:10	\N	\N	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	73102	\N	\N	EFO	0	EFO	48,XXYY syndrome	48,XXYY syndrome
Orphanet:165707	Orphanet:10	\N	"" []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	214188	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	48,XXYY syndrome
Orphanet:263749	Orphanet:10	\N	"" []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	214189	\N	\N	EFO	1	EFO	X and Y chromosomal anomaly	48,XXYY syndrome
Orphanet:325546	Orphanet:10	\N	"" []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	214190	\N	\N	EFO	1	EFO	Sex chromosome disorder of sex development	48,XXYY syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	568111	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	48,XXYY syndrome
Orphanet:98156	Orphanet:263749	\N	"" []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	568112	\N	\N	EFO	2	EFO	Gonosome number anomaly	48,XXYY syndrome
Orphanet:325690	Orphanet:325546	\N	"" []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	568113	\N	\N	EFO	2	EFO	Genetic disorder of sex development	48,XXYY syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	1149589	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	48,XXYY syndrome
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	1149590	\N	\N	EFO	3	EFO	Gonosome anomaly	48,XXYY syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	1149591	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	48,XXYY syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	1149592	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	48,XXYY syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	1149593	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	48,XXYY syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	2031781	\N	\N	EFO	4	EFO	genetic disorder	48,XXYY syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	2031782	\N	\N	EFO	4	EFO	Chromosomal anomaly	48,XXYY syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	2031783	\N	\N	EFO	4	EFO	genetic disorder	48,XXYY syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	2031784	\N	\N	EFO	4	EFO	endocrine system disease	48,XXYY syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	2031785	\N	\N	EFO	4	EFO	genetic disorder	48,XXYY syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	4390415	\N	\N	EFO	6	EFO	disease	48,XXYY syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	3182325	\N	\N	EFO	5	EFO	genetic disorder	48,XXYY syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	3182326	\N	\N	EFO	5	EFO	disease	48,XXYY syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	5181417	\N	\N	EFO	7	EFO	disposition	48,XXYY syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	5996808	\N	\N	EFO	8	EFO	material property	48,XXYY syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:10	"The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." []	6550436	\N	\N	EFO	9	EFO	experimental factor	48,XXYY syndrome
Orphanet:100	\N	\N	"" []	Orphanet:100	"" []	73103	\N	\N	EFO	0	EFO	Ataxia-telangiectasia	Ataxia-telangiectasia
Orphanet:139027	Orphanet:100	\N	"" []	Orphanet:100	"" []	214191	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Ataxia-telangiectasia
Orphanet:169346	Orphanet:100	\N	"" []	Orphanet:100	"" []	214192	\N	\N	EFO	1	EFO	DNA repair defect other than combined T-cell and B-cell immunodeficiencies	Ataxia-telangiectasia
Orphanet:183422	Orphanet:100	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:100	"" []	214193	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Ataxia-telangiectasia
Orphanet:183478	Orphanet:100	\N	"" []	Orphanet:100	"" []	214194	\N	\N	EFO	1	EFO	Genetic skin vascular disorder	Ataxia-telangiectasia
Orphanet:95710	Orphanet:100	\N	"" []	Orphanet:100	"" []	214195	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	Ataxia-telangiectasia
Orphanet:98097	Orphanet:100	\N	"" []	Orphanet:100	"" []	214196	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Ataxia-telangiectasia
Orphanet:98613	Orphanet:100	\N	"" []	Orphanet:100	"" []	214197	\N	\N	EFO	1	EFO	Conjunctival telangiectasia	Ataxia-telangiectasia
Orphanet:98688	Orphanet:100	\N	"" []	Orphanet:100	"" []	214198	\N	\N	EFO	1	EFO	Oculomotor apraxia or related oculomotor disease	Ataxia-telangiectasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:100	"" []	568114	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ataxia-telangiectasia
Orphanet:331217	Orphanet:169346	\N	"" []	Orphanet:100	"" []	568115	\N	\N	EFO	2	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Ataxia-telangiectasia
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:100	"" []	568116	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Ataxia-telangiectasia
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:100	"" []	568117	\N	\N	EFO	2	EFO	Genetic dermis disorder	Ataxia-telangiectasia
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:100	"" []	568118	\N	\N	EFO	2	EFO	ovarian disease	Ataxia-telangiectasia
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:100	"" []	568119	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Ataxia-telangiectasia
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:100	"" []	568120	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Ataxia-telangiectasia
Orphanet:1172	Orphanet:98097	\N	"" []	Orphanet:100	"" []	568121	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Ataxia-telangiectasia
Orphanet:98611	Orphanet:98613	\N	"" []	Orphanet:100	"" []	568122	\N	\N	EFO	2	EFO	Conjunctival vascular anomaly	Ataxia-telangiectasia
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:100	"" []	568123	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Ataxia-telangiectasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100	"" []	1149594	\N	\N	EFO	3	EFO	genetic disorder	Ataxia-telangiectasia
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:100	"" []	1149595	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Ataxia-telangiectasia
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100	"" []	1149596	\N	\N	EFO	3	EFO	genetic disorder	Ataxia-telangiectasia
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:100	"" []	1149597	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ataxia-telangiectasia
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:100	"" []	1149598	\N	\N	EFO	3	EFO	reproductive system disease	Ataxia-telangiectasia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100	"" []	1149599	\N	\N	EFO	3	EFO	genetic disorder	Ataxia-telangiectasia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:100	"" []	1149600	\N	\N	EFO	3	EFO	endocrine system disease	Ataxia-telangiectasia
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:100	"" []	1149601	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Ataxia-telangiectasia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:100	"" []	1149602	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Ataxia-telangiectasia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:100	"" []	1149603	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Ataxia-telangiectasia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:100	"" []	1149604	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Ataxia-telangiectasia
Orphanet:98610	Orphanet:98611	\N	"" []	Orphanet:100	"" []	1149605	\N	\N	EFO	3	EFO	Rare conjunctival disease	Ataxia-telangiectasia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:100	"" []	4390422	\N	\N	EFO	6	EFO	Rare genetic eye disease	Ataxia-telangiectasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100	"" []	6409778	\N	\N	EFO	9	EFO	disease	Ataxia-telangiectasia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:100	"" []	2031787	\N	\N	EFO	4	EFO	Primary immunodeficiency	Ataxia-telangiectasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100	"" []	2031788	\N	\N	EFO	4	EFO	genetic disorder	Ataxia-telangiectasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:100	"" []	2031789	\N	\N	EFO	4	EFO	skin disease	Ataxia-telangiectasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100	"" []	3182331	\N	\N	EFO	5	EFO	disease	Ataxia-telangiectasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100	"" []	2031791	\N	\N	EFO	4	EFO	disease	Ataxia-telangiectasia
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100	"" []	2031792	\N	\N	EFO	4	EFO	genetic disorder	Ataxia-telangiectasia
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:100	"" []	2031793	\N	\N	EFO	4	EFO	reproductive system disease	Ataxia-telangiectasia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:100	"" []	2031794	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Ataxia-telangiectasia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:100	"" []	2031795	\N	\N	EFO	4	EFO	Ataxia with dementia	Ataxia-telangiectasia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:100	"" []	2031796	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Ataxia-telangiectasia
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:100	"" []	2031797	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Ataxia-telangiectasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100	"" []	5028372	\N	\N	EFO	7	EFO	genetic disorder	Ataxia-telangiectasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:100	"" []	5028373	\N	\N	EFO	7	EFO	eye disease	Ataxia-telangiectasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100	"" []	6762358	\N	\N	EFO	10	EFO	disposition	Ataxia-telangiectasia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:100	"" []	3182328	\N	\N	EFO	5	EFO	Rare genetic immune disease	Ataxia-telangiectasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100	"" []	3182330	\N	\N	EFO	5	EFO	disease	Ataxia-telangiectasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100	"" []	6147754	\N	\N	EFO	8	EFO	genetic disorder	Ataxia-telangiectasia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:100	"" []	3182333	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Ataxia-telangiectasia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:100	"" []	3182334	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Ataxia-telangiectasia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:100	"" []	3182335	\N	\N	EFO	5	EFO	Rare genetic eye disease	Ataxia-telangiectasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100	"" []	5817424	\N	\N	EFO	8	EFO	disease	Ataxia-telangiectasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100	"" []	7015661	\N	\N	EFO	11	EFO	material property	Ataxia-telangiectasia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100	"" []	4390417	\N	\N	EFO	6	EFO	genetic disorder	Ataxia-telangiectasia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:100	"" []	4390418	\N	\N	EFO	6	EFO	immune system disease	Ataxia-telangiectasia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:100	"" []	4390420	\N	\N	EFO	6	EFO	Genetic dementia	Ataxia-telangiectasia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:100	"" []	4390421	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Ataxia-telangiectasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100	"" []	7173611	\N	\N	EFO	12	EFO	experimental factor	Ataxia-telangiectasia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100	"" []	5409759	\N	\N	EFO	7	EFO	disease	Ataxia-telangiectasia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100	"" []	5409760	\N	\N	EFO	7	EFO	brain disease	Ataxia-telangiectasia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:100	"" []	5409761	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Ataxia-telangiectasia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100	"" []	5409762	\N	\N	EFO	7	EFO	neurodegenerative disease	Ataxia-telangiectasia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100	"" []	5409763	\N	\N	EFO	7	EFO	brain disease	Ataxia-telangiectasia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100	"" []	5409764	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Ataxia-telangiectasia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100	"" []	6147753	\N	\N	EFO	8	EFO	nervous system disease	Ataxia-telangiectasia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100	"" []	6147755	\N	\N	EFO	8	EFO	nervous system disease	Ataxia-telangiectasia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100	"" []	6631913	\N	\N	EFO	9	EFO	disease	Ataxia-telangiectasia
Orphanet:1000	\N	\N	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	73104	\N	\N	EFO	0	EFO	Ocular albinism with late-onset sensorineural deafness	Ocular albinism with late-onset sensorineural deafness
Orphanet:284804	Orphanet:1000	\N	"" []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	214199	\N	\N	EFO	1	EFO	Ocular albinism	Ocular albinism with late-onset sensorineural deafness
Orphanet:90642	Orphanet:1000	\N	"" []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	214200	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Ocular albinism with late-onset sensorineural deafness
Orphanet:352728	Orphanet:284804	\N	"" []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	568124	\N	\N	EFO	2	EFO	Disorder of melanin metabolism	Ocular albinism with late-onset sensorineural deafness
Orphanet:98706	Orphanet:284804	\N	"" []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	568125	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Ocular albinism with late-onset sensorineural deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	568126	\N	\N	EFO	2	EFO	Rare genetic deafness	Ocular albinism with late-onset sensorineural deafness
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	1149607	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Ocular albinism with late-onset sensorineural deafness
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	1149608	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Ocular albinism with late-onset sensorineural deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	1149609	\N	\N	EFO	3	EFO	genetic disorder	Ocular albinism with late-onset sensorineural deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	1149610	\N	\N	EFO	3	EFO	auditory system disease	Ocular albinism with late-onset sensorineural deafness
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	2031800	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Ocular albinism with late-onset sensorineural deafness
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	2031801	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Ocular albinism with late-onset sensorineural deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	5409765	\N	\N	EFO	7	EFO	disease	Ocular albinism with late-onset sensorineural deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	2031803	\N	\N	EFO	4	EFO	sensory system disease	Ocular albinism with late-onset sensorineural deafness
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	3182337	\N	\N	EFO	5	EFO	genetic disorder	Ocular albinism with late-onset sensorineural deafness
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	3182338	\N	\N	EFO	5	EFO	metabolic disease	Ocular albinism with late-onset sensorineural deafness
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	3182339	\N	\N	EFO	5	EFO	Rare genetic eye disease	Ocular albinism with late-onset sensorineural deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	5817425	\N	\N	EFO	8	EFO	disposition	Ocular albinism with late-onset sensorineural deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	3182341	\N	\N	EFO	5	EFO	nervous system disease	Ocular albinism with late-onset sensorineural deafness
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	4390426	\N	\N	EFO	6	EFO	disease	Ocular albinism with late-onset sensorineural deafness
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	4390427	\N	\N	EFO	6	EFO	genetic disorder	Ocular albinism with late-onset sensorineural deafness
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	4390428	\N	\N	EFO	6	EFO	eye disease	Ocular albinism with late-onset sensorineural deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	6409779	\N	\N	EFO	9	EFO	material property	Ocular albinism with late-onset sensorineural deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	4390430	\N	\N	EFO	6	EFO	disease	Ocular albinism with late-onset sensorineural deafness
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	5409766	\N	\N	EFO	7	EFO	disease	Ocular albinism with late-onset sensorineural deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1000	"Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." []	6807637	\N	\N	EFO	10	EFO	experimental factor	Ocular albinism with late-onset sensorineural deafness
Orphanet:100006	\N	\N	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	73105	\N	\N	EFO	0	EFO	Hereditary cerebral hemorrhage with amyloidosis, Dutch type	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Orphanet:85458	Orphanet:100006	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	214201	\N	\N	EFO	1	EFO	Hereditary cerebral hemorrhage with amyloidosis	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Orphanet:183503	Orphanet:85458	\N	"" []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	568127	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Orphanet:371439	Orphanet:85458	\N	"" []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	568128	\N	\N	EFO	2	EFO	Genetic cerebrovascular dementia	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	1149611	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
EFO:0003763	Orphanet:371439	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	1149612	\N	\N	EFO	3	EFO	cerebrovascular disorder	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Orphanet:158124	Orphanet:371439	\N	"" []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	1149613	\N	\N	EFO	3	EFO	Genetic dementia	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	3182345	\N	\N	EFO	5	EFO	genetic disorder	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	2031805	\N	\N	EFO	4	EFO	vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	2031806	\N	\N	EFO	4	EFO	brain disease	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	2031807	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	4133180	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	3182343	\N	\N	EFO	5	EFO	cardiovascular disease	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	3182344	\N	\N	EFO	5	EFO	nervous system disease	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	5181419	\N	\N	EFO	7	EFO	disposition	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	4390432	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	4390433	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	5996810	\N	\N	EFO	8	EFO	material property	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100006	"Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." []	6550437	\N	\N	EFO	9	EFO	experimental factor	Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Orphanet:100008	\N	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	73106	\N	\N	EFO	0	EFO	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Orphanet:85458	Orphanet:100008	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	214202	\N	\N	EFO	1	EFO	Hereditary cerebral hemorrhage with amyloidosis	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Orphanet:183503	Orphanet:85458	\N	"" []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	568129	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Orphanet:371439	Orphanet:85458	\N	"" []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	568130	\N	\N	EFO	2	EFO	Genetic cerebrovascular dementia	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	1149614	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
EFO:0003763	Orphanet:371439	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	1149615	\N	\N	EFO	3	EFO	cerebrovascular disorder	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Orphanet:158124	Orphanet:371439	\N	"" []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	1149616	\N	\N	EFO	3	EFO	Genetic dementia	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	3182349	\N	\N	EFO	5	EFO	genetic disorder	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	2031809	\N	\N	EFO	4	EFO	vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	2031810	\N	\N	EFO	4	EFO	brain disease	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	2031811	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	4133181	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	3182347	\N	\N	EFO	5	EFO	cardiovascular disease	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	3182348	\N	\N	EFO	5	EFO	nervous system disease	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	5181420	\N	\N	EFO	7	EFO	disposition	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	4390435	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	4390436	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	5996811	\N	\N	EFO	8	EFO	material property	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100008	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." []	6550438	\N	\N	EFO	9	EFO	experimental factor	Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Orphanet:100011	\N	\N	"" []	Orphanet:100011	"" []	73107	\N	\N	EFO	0	EFO	Lissencephaly with cerebellar hypoplasia type A	Lissencephaly with cerebellar hypoplasia type A
Orphanet:86823	Orphanet:100011	\N	"" []	Orphanet:100011	"" []	214203	\N	\N	EFO	1	EFO	Lissencephaly with cerebellar hypoplasia	Lissencephaly with cerebellar hypoplasia type A
Orphanet:48471	Orphanet:86823	\N	"" []	Orphanet:100011	"" []	568131	\N	\N	EFO	2	EFO	Lissencephaly	Lissencephaly with cerebellar hypoplasia type A
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:100011	"" []	1149617	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Lissencephaly with cerebellar hypoplasia type A
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:100011	"" []	1149618	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly with cerebellar hypoplasia type A
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:100011	"" []	1149619	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly with cerebellar hypoplasia type A
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:100011	"" []	2031812	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Lissencephaly with cerebellar hypoplasia type A
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:100011	"" []	2031813	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Lissencephaly with cerebellar hypoplasia type A
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:100011	"" []	2031814	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lissencephaly with cerebellar hypoplasia type A
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:100011	"" []	3182350	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type A
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:100011	"" []	3182351	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type A
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:100011	"" []	3182352	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly with cerebellar hypoplasia type A
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:100011	"" []	3182353	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100011	"" []	4390437	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia type A
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100011	"" []	4390438	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia type A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100011	"" []	5409770	\N	\N	EFO	7	EFO	disease	Lissencephaly with cerebellar hypoplasia type A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100011	"" []	6147758	\N	\N	EFO	8	EFO	disposition	Lissencephaly with cerebellar hypoplasia type A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100011	"" []	6631914	\N	\N	EFO	9	EFO	material property	Lissencephaly with cerebellar hypoplasia type A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100011	"" []	6925330	\N	\N	EFO	10	EFO	experimental factor	Lissencephaly with cerebellar hypoplasia type A
Orphanet:100012	\N	\N	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	73108	\N	\N	EFO	0	EFO	Lissencephaly with cerebellar hypoplasia type B	Lissencephaly with cerebellar hypoplasia type B
Orphanet:86823	Orphanet:100012	\N	"" []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	214204	\N	\N	EFO	1	EFO	Lissencephaly with cerebellar hypoplasia	Lissencephaly with cerebellar hypoplasia type B
Orphanet:48471	Orphanet:86823	\N	"" []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	568132	\N	\N	EFO	2	EFO	Lissencephaly	Lissencephaly with cerebellar hypoplasia type B
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	1149620	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Lissencephaly with cerebellar hypoplasia type B
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	1149621	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly with cerebellar hypoplasia type B
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	1149622	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly with cerebellar hypoplasia type B
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	2031815	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Lissencephaly with cerebellar hypoplasia type B
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	2031816	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Lissencephaly with cerebellar hypoplasia type B
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	2031817	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lissencephaly with cerebellar hypoplasia type B
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	3182354	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type B
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	3182355	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type B
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	3182356	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly with cerebellar hypoplasia type B
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	3182357	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	4390439	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia type B
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	4390440	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	5409771	\N	\N	EFO	7	EFO	disease	Lissencephaly with cerebellar hypoplasia type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	6147759	\N	\N	EFO	8	EFO	disposition	Lissencephaly with cerebellar hypoplasia type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	6631915	\N	\N	EFO	9	EFO	material property	Lissencephaly with cerebellar hypoplasia type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100012	"Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." []	6925331	\N	\N	EFO	10	EFO	experimental factor	Lissencephaly with cerebellar hypoplasia type B
Orphanet:100013	\N	\N	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	73109	\N	\N	EFO	0	EFO	Lissencephaly with cerebellar hypoplasia type C	Lissencephaly with cerebellar hypoplasia type C
Orphanet:86823	Orphanet:100013	\N	"" []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	214205	\N	\N	EFO	1	EFO	Lissencephaly with cerebellar hypoplasia	Lissencephaly with cerebellar hypoplasia type C
Orphanet:48471	Orphanet:86823	\N	"" []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	568133	\N	\N	EFO	2	EFO	Lissencephaly	Lissencephaly with cerebellar hypoplasia type C
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	1149623	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Lissencephaly with cerebellar hypoplasia type C
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	1149624	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly with cerebellar hypoplasia type C
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	1149625	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly with cerebellar hypoplasia type C
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	2031818	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Lissencephaly with cerebellar hypoplasia type C
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	2031819	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Lissencephaly with cerebellar hypoplasia type C
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	2031820	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lissencephaly with cerebellar hypoplasia type C
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	3182358	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type C
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	3182359	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type C
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	3182360	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly with cerebellar hypoplasia type C
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	3182361	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type C
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	4390441	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia type C
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	4390442	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia type C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	5409772	\N	\N	EFO	7	EFO	disease	Lissencephaly with cerebellar hypoplasia type C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	6147760	\N	\N	EFO	8	EFO	disposition	Lissencephaly with cerebellar hypoplasia type C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	6631916	\N	\N	EFO	9	EFO	material property	Lissencephaly with cerebellar hypoplasia type C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100013	"Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." []	6925332	\N	\N	EFO	10	EFO	experimental factor	Lissencephaly with cerebellar hypoplasia type C
Orphanet:100014	\N	\N	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	73110	\N	\N	EFO	0	EFO	Lissencephaly with cerebellar hypoplasia type D	Lissencephaly with cerebellar hypoplasia type D
Orphanet:86823	Orphanet:100014	\N	"" []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	214206	\N	\N	EFO	1	EFO	Lissencephaly with cerebellar hypoplasia	Lissencephaly with cerebellar hypoplasia type D
Orphanet:48471	Orphanet:86823	\N	"" []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	568134	\N	\N	EFO	2	EFO	Lissencephaly	Lissencephaly with cerebellar hypoplasia type D
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	1149626	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Lissencephaly with cerebellar hypoplasia type D
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	1149627	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly with cerebellar hypoplasia type D
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	1149628	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly with cerebellar hypoplasia type D
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	2031821	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Lissencephaly with cerebellar hypoplasia type D
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	2031822	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Lissencephaly with cerebellar hypoplasia type D
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	2031823	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lissencephaly with cerebellar hypoplasia type D
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	3182362	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type D
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	3182363	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type D
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	3182364	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly with cerebellar hypoplasia type D
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	3182365	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type D
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	4390443	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia type D
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	4390444	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia type D
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	5409773	\N	\N	EFO	7	EFO	disease	Lissencephaly with cerebellar hypoplasia type D
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	6147761	\N	\N	EFO	8	EFO	disposition	Lissencephaly with cerebellar hypoplasia type D
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	6631917	\N	\N	EFO	9	EFO	material property	Lissencephaly with cerebellar hypoplasia type D
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100014	"Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least  3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." []	6925333	\N	\N	EFO	10	EFO	experimental factor	Lissencephaly with cerebellar hypoplasia type D
Orphanet:100015	\N	\N	"" []	Orphanet:100015	"" []	73111	\N	\N	EFO	0	EFO	Lissencephaly with cerebellar hypoplasia type E	Lissencephaly with cerebellar hypoplasia type E
Orphanet:86823	Orphanet:100015	\N	"" []	Orphanet:100015	"" []	214207	\N	\N	EFO	1	EFO	Lissencephaly with cerebellar hypoplasia	Lissencephaly with cerebellar hypoplasia type E
Orphanet:48471	Orphanet:86823	\N	"" []	Orphanet:100015	"" []	568135	\N	\N	EFO	2	EFO	Lissencephaly	Lissencephaly with cerebellar hypoplasia type E
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:100015	"" []	1149629	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Lissencephaly with cerebellar hypoplasia type E
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:100015	"" []	1149630	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly with cerebellar hypoplasia type E
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:100015	"" []	1149631	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly with cerebellar hypoplasia type E
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:100015	"" []	2031824	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Lissencephaly with cerebellar hypoplasia type E
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:100015	"" []	2031825	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Lissencephaly with cerebellar hypoplasia type E
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:100015	"" []	2031826	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lissencephaly with cerebellar hypoplasia type E
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:100015	"" []	3182366	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type E
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:100015	"" []	3182367	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type E
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:100015	"" []	3182368	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly with cerebellar hypoplasia type E
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:100015	"" []	3182369	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type E
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100015	"" []	4390445	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia type E
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100015	"" []	4390446	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia type E
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100015	"" []	5409774	\N	\N	EFO	7	EFO	disease	Lissencephaly with cerebellar hypoplasia type E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100015	"" []	6147762	\N	\N	EFO	8	EFO	disposition	Lissencephaly with cerebellar hypoplasia type E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100015	"" []	6631918	\N	\N	EFO	9	EFO	material property	Lissencephaly with cerebellar hypoplasia type E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100015	"" []	6925334	\N	\N	EFO	10	EFO	experimental factor	Lissencephaly with cerebellar hypoplasia type E
Orphanet:100016	\N	\N	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	73112	\N	\N	EFO	0	EFO	Lissencephaly with cerebellar hypoplasia type F	Lissencephaly with cerebellar hypoplasia type F
Orphanet:86823	Orphanet:100016	\N	"" []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	214208	\N	\N	EFO	1	EFO	Lissencephaly with cerebellar hypoplasia	Lissencephaly with cerebellar hypoplasia type F
Orphanet:48471	Orphanet:86823	\N	"" []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	568136	\N	\N	EFO	2	EFO	Lissencephaly	Lissencephaly with cerebellar hypoplasia type F
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	1149632	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Lissencephaly with cerebellar hypoplasia type F
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	1149633	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly with cerebellar hypoplasia type F
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	1149634	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly with cerebellar hypoplasia type F
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	2031827	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Lissencephaly with cerebellar hypoplasia type F
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	2031828	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Lissencephaly with cerebellar hypoplasia type F
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	2031829	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lissencephaly with cerebellar hypoplasia type F
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	3182370	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type F
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	3182371	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type F
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	3182372	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly with cerebellar hypoplasia type F
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	3182373	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia type F
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	4390447	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia type F
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	4390448	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia type F
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	5409775	\N	\N	EFO	7	EFO	disease	Lissencephaly with cerebellar hypoplasia type F
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	6147763	\N	\N	EFO	8	EFO	disposition	Lissencephaly with cerebellar hypoplasia type F
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	6631919	\N	\N	EFO	9	EFO	material property	Lissencephaly with cerebellar hypoplasia type F
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100016	"Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." []	6925335	\N	\N	EFO	10	EFO	experimental factor	Lissencephaly with cerebellar hypoplasia type F
Orphanet:100031	\N	\N	"" []	Orphanet:100031	"" []	73113	\N	\N	EFO	0	EFO	Hypoplastic amelogenesis imperfecta	Hypoplastic amelogenesis imperfecta
Orphanet:88661	Orphanet:100031	\N	"" []	Orphanet:100031	"" []	214209	\N	\N	EFO	1	EFO	Amelogenesis imperfecta	Hypoplastic amelogenesis imperfecta
Orphanet:164001	Orphanet:88661	\N	"" []	Orphanet:100031	"" []	568137	\N	\N	EFO	2	EFO	Rare odontal or periodontal disorder	Hypoplastic amelogenesis imperfecta
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:100031	"" []	1149635	\N	\N	EFO	3	EFO	Rare genetic odontologic disease	Hypoplastic amelogenesis imperfecta
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100031	"" []	2031830	\N	\N	EFO	4	EFO	genetic disorder	Hypoplastic amelogenesis imperfecta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100031	"" []	3182374	\N	\N	EFO	5	EFO	disease	Hypoplastic amelogenesis imperfecta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100031	"" []	4390449	\N	\N	EFO	6	EFO	disposition	Hypoplastic amelogenesis imperfecta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100031	"" []	5409776	\N	\N	EFO	7	EFO	material property	Hypoplastic amelogenesis imperfecta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100031	"" []	6147764	\N	\N	EFO	8	EFO	experimental factor	Hypoplastic amelogenesis imperfecta
Orphanet:100032	\N	\N	"" []	Orphanet:100032	"" []	73114	\N	\N	EFO	0	EFO	Hypocalcified amelogenesis imperfecta	Hypocalcified amelogenesis imperfecta
Orphanet:88661	Orphanet:100032	\N	"" []	Orphanet:100032	"" []	214210	\N	\N	EFO	1	EFO	Amelogenesis imperfecta	Hypocalcified amelogenesis imperfecta
Orphanet:164001	Orphanet:88661	\N	"" []	Orphanet:100032	"" []	568138	\N	\N	EFO	2	EFO	Rare odontal or periodontal disorder	Hypocalcified amelogenesis imperfecta
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:100032	"" []	1149636	\N	\N	EFO	3	EFO	Rare genetic odontologic disease	Hypocalcified amelogenesis imperfecta
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100032	"" []	2031831	\N	\N	EFO	4	EFO	genetic disorder	Hypocalcified amelogenesis imperfecta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100032	"" []	3182375	\N	\N	EFO	5	EFO	disease	Hypocalcified amelogenesis imperfecta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100032	"" []	4390450	\N	\N	EFO	6	EFO	disposition	Hypocalcified amelogenesis imperfecta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100032	"" []	5409777	\N	\N	EFO	7	EFO	material property	Hypocalcified amelogenesis imperfecta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100032	"" []	6147765	\N	\N	EFO	8	EFO	experimental factor	Hypocalcified amelogenesis imperfecta
Orphanet:100033	\N	\N	"" []	Orphanet:100033	"" []	73115	\N	\N	EFO	0	EFO	Hypomaturation amelogenesis imperfecta	Hypomaturation amelogenesis imperfecta
Orphanet:88661	Orphanet:100033	\N	"" []	Orphanet:100033	"" []	214211	\N	\N	EFO	1	EFO	Amelogenesis imperfecta	Hypomaturation amelogenesis imperfecta
Orphanet:164001	Orphanet:88661	\N	"" []	Orphanet:100033	"" []	568139	\N	\N	EFO	2	EFO	Rare odontal or periodontal disorder	Hypomaturation amelogenesis imperfecta
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:100033	"" []	1149637	\N	\N	EFO	3	EFO	Rare genetic odontologic disease	Hypomaturation amelogenesis imperfecta
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100033	"" []	2031832	\N	\N	EFO	4	EFO	genetic disorder	Hypomaturation amelogenesis imperfecta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100033	"" []	3182376	\N	\N	EFO	5	EFO	disease	Hypomaturation amelogenesis imperfecta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100033	"" []	4390451	\N	\N	EFO	6	EFO	disposition	Hypomaturation amelogenesis imperfecta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100033	"" []	5409778	\N	\N	EFO	7	EFO	material property	Hypomaturation amelogenesis imperfecta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100033	"" []	6147766	\N	\N	EFO	8	EFO	experimental factor	Hypomaturation amelogenesis imperfecta
Orphanet:100034	\N	\N	"" []	Orphanet:100034	"" []	73116	\N	\N	EFO	0	EFO	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Orphanet:88661	Orphanet:100034	\N	"" []	Orphanet:100034	"" []	214212	\N	\N	EFO	1	EFO	Amelogenesis imperfecta	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Orphanet:164001	Orphanet:88661	\N	"" []	Orphanet:100034	"" []	568140	\N	\N	EFO	2	EFO	Rare odontal or periodontal disorder	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:100034	"" []	1149638	\N	\N	EFO	3	EFO	Rare genetic odontologic disease	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100034	"" []	2031833	\N	\N	EFO	4	EFO	genetic disorder	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100034	"" []	3182377	\N	\N	EFO	5	EFO	disease	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100034	"" []	4390452	\N	\N	EFO	6	EFO	disposition	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100034	"" []	5409779	\N	\N	EFO	7	EFO	material property	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100034	"" []	6147767	\N	\N	EFO	8	EFO	experimental factor	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Orphanet:100043	\N	\N	"" []	Orphanet:100043	"" []	73117	\N	\N	EFO	0	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Orphanet:90114	Orphanet:100043	\N	"" []	Orphanet:100043	"" []	214213	\N	\N	EFO	1	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Orphanet:140450	Orphanet:90114	\N	"" []	Orphanet:100043	"" []	568141	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Orphanet:166	Orphanet:90114	\N	"" []	Orphanet:100043	"" []	568142	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:100043	"" []	1149639	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:100043	"" []	1149640	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:100043	"" []	1149641	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100043	"" []	2031834	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:100043	"" []	2031835	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100043	"" []	3182378	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100043	"" []	3182379	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100043	"" []	4390453	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100043	"" []	4390454	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100043	"" []	5409780	\N	\N	EFO	7	EFO	disposition	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100043	"" []	6147768	\N	\N	EFO	8	EFO	material property	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100043	"" []	6631920	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Orphanet:100044	\N	\N	"" []	Orphanet:100044	"" []	73118	\N	\N	EFO	0	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Orphanet:90114	Orphanet:100044	\N	"" []	Orphanet:100044	"" []	214214	\N	\N	EFO	1	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Orphanet:140450	Orphanet:90114	\N	"" []	Orphanet:100044	"" []	568143	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Orphanet:166	Orphanet:90114	\N	"" []	Orphanet:100044	"" []	568144	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:100044	"" []	1149642	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:100044	"" []	1149643	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:100044	"" []	1149644	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100044	"" []	2031836	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:100044	"" []	2031837	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100044	"" []	3182380	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100044	"" []	3182381	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100044	"" []	4390455	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100044	"" []	4390456	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100044	"" []	5409781	\N	\N	EFO	7	EFO	disposition	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100044	"" []	6147769	\N	\N	EFO	8	EFO	material property	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100044	"" []	6631921	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Orphanet:100045	\N	\N	"" []	Orphanet:100045	"" []	73119	\N	\N	EFO	0	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Orphanet:90114	Orphanet:100045	\N	"" []	Orphanet:100045	"" []	214215	\N	\N	EFO	1	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Orphanet:140450	Orphanet:90114	\N	"" []	Orphanet:100045	"" []	568145	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Orphanet:166	Orphanet:90114	\N	"" []	Orphanet:100045	"" []	568146	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:100045	"" []	1149645	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:100045	"" []	1149646	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:100045	"" []	1149647	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100045	"" []	2031838	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:100045	"" []	2031839	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100045	"" []	3182382	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100045	"" []	3182383	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100045	"" []	4390457	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100045	"" []	4390458	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100045	"" []	5409782	\N	\N	EFO	7	EFO	disposition	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100045	"" []	6147770	\N	\N	EFO	8	EFO	material property	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100045	"" []	6631922	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Orphanet:100046	\N	\N	"" []	Orphanet:100046	"" []	73120	\N	\N	EFO	0	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Orphanet:90114	Orphanet:100046	\N	"" []	Orphanet:100046	"" []	214216	\N	\N	EFO	1	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Orphanet:140450	Orphanet:90114	\N	"" []	Orphanet:100046	"" []	568147	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Orphanet:166	Orphanet:90114	\N	"" []	Orphanet:100046	"" []	568148	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:100046	"" []	1149648	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:100046	"" []	1149649	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:100046	"" []	1149650	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100046	"" []	2031840	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:100046	"" []	2031841	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100046	"" []	3182384	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100046	"" []	3182385	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100046	"" []	4390459	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100046	"" []	4390460	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100046	"" []	5409783	\N	\N	EFO	7	EFO	disposition	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100046	"" []	6147771	\N	\N	EFO	8	EFO	material property	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100046	"" []	6631923	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Orphanet:100047	\N	\N	"" []	Orphanet:100047	"" []	73121	\N	\N	EFO	0	EFO	Esophageal duplication cyst	Esophageal duplication cyst
Orphanet:91357	Orphanet:100047	\N	"" []	Orphanet:100047	"" []	214217	\N	\N	EFO	1	EFO	Duplication of the esophagus	Esophageal duplication cyst
Orphanet:108959	Orphanet:91357	\N	"" []	Orphanet:100047	"" []	568149	\N	\N	EFO	2	EFO	Non-syndromic esophageal malformation	Esophageal duplication cyst
Orphanet:88993	Orphanet:108959	\N	"" []	Orphanet:100047	"" []	1149651	\N	\N	EFO	3	EFO	Esophageal malformation	Esophageal duplication cyst
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:100047	"" []	2031842	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	Esophageal duplication cyst
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:100047	"" []	3182386	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Esophageal duplication cyst
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100047	"" []	4390461	\N	\N	EFO	6	EFO	genetic disorder	Esophageal duplication cyst
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100047	"" []	5409784	\N	\N	EFO	7	EFO	disease	Esophageal duplication cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100047	"" []	6147772	\N	\N	EFO	8	EFO	disposition	Esophageal duplication cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100047	"" []	6631924	\N	\N	EFO	9	EFO	material property	Esophageal duplication cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100047	"" []	6925336	\N	\N	EFO	10	EFO	experimental factor	Esophageal duplication cyst
Orphanet:100048	\N	\N	"Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." []	Orphanet:100048	"Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." []	73122	\N	\N	EFO	0	EFO	Tubular duplication of the esophagus	Tubular duplication of the esophagus
Orphanet:91357	Orphanet:100048	\N	"" []	Orphanet:100048	"Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." []	214218	\N	\N	EFO	1	EFO	Duplication of the esophagus	Tubular duplication of the esophagus
Orphanet:108959	Orphanet:91357	\N	"" []	Orphanet:100048	"Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." []	568150	\N	\N	EFO	2	EFO	Non-syndromic esophageal malformation	Tubular duplication of the esophagus
Orphanet:88993	Orphanet:108959	\N	"" []	Orphanet:100048	"Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." []	1149652	\N	\N	EFO	3	EFO	Esophageal malformation	Tubular duplication of the esophagus
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:100048	"Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." []	2031843	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	Tubular duplication of the esophagus
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:100048	"Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." []	3182387	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Tubular duplication of the esophagus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100048	"Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." []	4390462	\N	\N	EFO	6	EFO	genetic disorder	Tubular duplication of the esophagus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100048	"Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." []	5409785	\N	\N	EFO	7	EFO	disease	Tubular duplication of the esophagus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100048	"Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." []	6147773	\N	\N	EFO	8	EFO	disposition	Tubular duplication of the esophagus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100048	"Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." []	6631925	\N	\N	EFO	9	EFO	material property	Tubular duplication of the esophagus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100048	"Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." []	6925337	\N	\N	EFO	10	EFO	experimental factor	Tubular duplication of the esophagus
Orphanet:100049	\N	\N	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	Orphanet:100049	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	73123	\N	\N	EFO	0	EFO	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Orphanet:264992	Orphanet:100049	\N	"" []	Orphanet:100049	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	214219	\N	\N	EFO	1	EFO	Genetic interstitial lung disease	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Orphanet:156610	Orphanet:264992	\N	"" []	Orphanet:100049	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	568151	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100049	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	1149653	\N	\N	EFO	3	EFO	genetic disorder	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:100049	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	1149654	\N	\N	EFO	3	EFO	respiratory system disease	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100049	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	2031844	\N	\N	EFO	4	EFO	disease	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100049	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	2031845	\N	\N	EFO	4	EFO	disease	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100049	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	3182388	\N	\N	EFO	5	EFO	disposition	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100049	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	4390463	\N	\N	EFO	6	EFO	material property	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100049	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	5409786	\N	\N	EFO	7	EFO	experimental factor	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Orphanet:100050	\N	\N	"Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	Orphanet:100050	"Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	73124	\N	\N	EFO	0	EFO	Hereditary angioedema type 1	Hereditary angioedema type 1
Orphanet:91378	Orphanet:100050	\N	"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." []	Orphanet:100050	"Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	214220	\N	\N	EFO	1	EFO	Hereditary angioedema	Hereditary angioedema type 1
EFO:0000508	Orphanet:91378	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100050	"Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	568152	\N	\N	EFO	2	EFO	genetic disorder	Hereditary angioedema type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100050	"Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	1149655	\N	\N	EFO	3	EFO	disease	Hereditary angioedema type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100050	"Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	2031846	\N	\N	EFO	4	EFO	disposition	Hereditary angioedema type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100050	"Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	3182389	\N	\N	EFO	5	EFO	material property	Hereditary angioedema type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100050	"Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	4390464	\N	\N	EFO	6	EFO	experimental factor	Hereditary angioedema type 1
Orphanet:100051	\N	\N	"Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	Orphanet:100051	"Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	73125	\N	\N	EFO	0	EFO	Hereditary angioedema type 2	Hereditary angioedema type 2
Orphanet:91378	Orphanet:100051	\N	"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." []	Orphanet:100051	"Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	214221	\N	\N	EFO	1	EFO	Hereditary angioedema	Hereditary angioedema type 2
EFO:0000508	Orphanet:91378	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100051	"Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	568153	\N	\N	EFO	2	EFO	genetic disorder	Hereditary angioedema type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100051	"Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	1149656	\N	\N	EFO	3	EFO	disease	Hereditary angioedema type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100051	"Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	2031847	\N	\N	EFO	4	EFO	disposition	Hereditary angioedema type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100051	"Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	3182390	\N	\N	EFO	5	EFO	material property	Hereditary angioedema type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100051	"Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	4390465	\N	\N	EFO	6	EFO	experimental factor	Hereditary angioedema type 2
Orphanet:100054	\N	\N	"Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	Orphanet:100054	"Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	73126	\N	\N	EFO	0	EFO	Hereditary angioedema type 3	Hereditary angioedema type 3
Orphanet:91378	Orphanet:100054	\N	"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." []	Orphanet:100054	"Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	214222	\N	\N	EFO	1	EFO	Hereditary angioedema	Hereditary angioedema type 3
EFO:0000508	Orphanet:91378	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100054	"Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	568154	\N	\N	EFO	2	EFO	genetic disorder	Hereditary angioedema type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100054	"Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	1149657	\N	\N	EFO	3	EFO	disease	Hereditary angioedema type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100054	"Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	2031848	\N	\N	EFO	4	EFO	disposition	Hereditary angioedema type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100054	"Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	3182391	\N	\N	EFO	5	EFO	material property	Hereditary angioedema type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100054	"Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." []	4390466	\N	\N	EFO	6	EFO	experimental factor	Hereditary angioedema type 3
Orphanet:100069	\N	\N	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	73127	\N	\N	EFO	0	EFO	Semantic dementia	Semantic dementia
Orphanet:282	Orphanet:100069	\N	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	214223	\N	\N	EFO	1	EFO	Frontotemporal dementia	Semantic dementia
Orphanet:276061	Orphanet:282	\N	"" []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	568155	\N	\N	EFO	2	EFO	Genetic frontotemporal degeneration with dementia	Semantic dementia
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	1149658	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease with dementia	Semantic dementia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	2031849	\N	\N	EFO	4	EFO	Genetic dementia	Semantic dementia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	2031850	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Semantic dementia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	3182392	\N	\N	EFO	5	EFO	brain disease	Semantic dementia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	3182393	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Semantic dementia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	3182394	\N	\N	EFO	5	EFO	neurodegenerative disease	Semantic dementia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	3182395	\N	\N	EFO	5	EFO	brain disease	Semantic dementia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	3182396	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Semantic dementia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	4390467	\N	\N	EFO	6	EFO	nervous system disease	Semantic dementia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	4390468	\N	\N	EFO	6	EFO	genetic disorder	Semantic dementia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	4390469	\N	\N	EFO	6	EFO	nervous system disease	Semantic dementia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	5409787	\N	\N	EFO	7	EFO	disease	Semantic dementia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	5409788	\N	\N	EFO	7	EFO	disease	Semantic dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	6147774	\N	\N	EFO	8	EFO	disposition	Semantic dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	6631926	\N	\N	EFO	9	EFO	material property	Semantic dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100069	"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." []	6925338	\N	\N	EFO	10	EFO	experimental factor	Semantic dementia
Orphanet:100070	\N	\N	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	73128	\N	\N	EFO	0	EFO	Progressive non-fluent aphasia	Progressive non-fluent aphasia
Orphanet:282	Orphanet:100070	\N	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	214224	\N	\N	EFO	1	EFO	Frontotemporal dementia	Progressive non-fluent aphasia
Orphanet:306708	Orphanet:100070	\N	"" []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	214225	\N	\N	EFO	1	EFO	Frontotemporal neurodegeneration with movement disorder	Progressive non-fluent aphasia
Orphanet:276061	Orphanet:282	\N	"" []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	568156	\N	\N	EFO	2	EFO	Genetic frontotemporal degeneration with dementia	Progressive non-fluent aphasia
Orphanet:307058	Orphanet:306708	\N	"" []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	568157	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Progressive non-fluent aphasia
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	1149659	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease with dementia	Progressive non-fluent aphasia
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	1149660	\N	\N	EFO	3	EFO	neurodegenerative disease	Progressive non-fluent aphasia
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	1149661	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Progressive non-fluent aphasia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	2031851	\N	\N	EFO	4	EFO	Genetic dementia	Progressive non-fluent aphasia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	2031852	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Progressive non-fluent aphasia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	4390472	\N	\N	EFO	6	EFO	nervous system disease	Progressive non-fluent aphasia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	2031854	\N	\N	EFO	4	EFO	movement disorder	Progressive non-fluent aphasia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	2031855	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Progressive non-fluent aphasia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	3182397	\N	\N	EFO	5	EFO	brain disease	Progressive non-fluent aphasia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	3182398	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Progressive non-fluent aphasia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	3182399	\N	\N	EFO	5	EFO	neurodegenerative disease	Progressive non-fluent aphasia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	3182400	\N	\N	EFO	5	EFO	brain disease	Progressive non-fluent aphasia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	3182401	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Progressive non-fluent aphasia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	5059537	\N	\N	EFO	7	EFO	disease	Progressive non-fluent aphasia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	3182403	\N	\N	EFO	5	EFO	nervous system disease	Progressive non-fluent aphasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	4390471	\N	\N	EFO	6	EFO	genetic disorder	Progressive non-fluent aphasia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	4390470	\N	\N	EFO	6	EFO	nervous system disease	Progressive non-fluent aphasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	5876680	\N	\N	EFO	8	EFO	disposition	Progressive non-fluent aphasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	5181422	\N	\N	EFO	7	EFO	disease	Progressive non-fluent aphasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	6469886	\N	\N	EFO	9	EFO	material property	Progressive non-fluent aphasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100070	"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." []	6848229	\N	\N	EFO	10	EFO	experimental factor	Progressive non-fluent aphasia
Orphanet:100071	\N	\N	"" []	Orphanet:100071	"" []	73129	\N	\N	EFO	0	EFO	Mosaic trisomy 3	Mosaic trisomy 3
Orphanet:98131	Orphanet:100071	\N	"" []	Orphanet:100071	"" []	214226	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 3
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:100071	"" []	568158	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 3
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:100071	"" []	1149662	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 3
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:100071	"" []	2031856	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 3
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100071	"" []	3182405	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100071	"" []	4390476	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100071	"" []	5409790	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100071	"" []	6147776	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100071	"" []	6631927	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 3
Orphanet:100094	\N	\N	"" []	Orphanet:100094	"" []	73130	\N	\N	EFO	0	EFO	Multiple polyglandular tumor	Multiple polyglandular tumor
Orphanet:183643	Orphanet:100094	\N	"" []	Orphanet:100094	"" []	214227	\N	\N	EFO	1	EFO	Genetic polyendocrinopathy	Multiple polyglandular tumor
Orphanet:271847	Orphanet:100094	\N	"" []	Orphanet:100094	"" []	214228	\N	\N	EFO	1	EFO	Genetic endocrine tumor	Multiple polyglandular tumor
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:100094	"" []	568159	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Multiple polyglandular tumor
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:100094	"" []	568160	\N	\N	EFO	2	EFO	endocrine neoplasm	Multiple polyglandular tumor
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:100094	"" []	568161	\N	\N	EFO	2	EFO	Rare genetic tumor	Multiple polyglandular tumor
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100094	"" []	1149663	\N	\N	EFO	3	EFO	genetic disorder	Multiple polyglandular tumor
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:100094	"" []	1149664	\N	\N	EFO	3	EFO	endocrine system disease	Multiple polyglandular tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:100094	"" []	1149665	\N	\N	EFO	3	EFO	neoplasm	Multiple polyglandular tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:100094	"" []	1149666	\N	\N	EFO	3	EFO	endocrine system disease	Multiple polyglandular tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100094	"" []	1149667	\N	\N	EFO	3	EFO	genetic disorder	Multiple polyglandular tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:100094	"" []	1149668	\N	\N	EFO	3	EFO	neoplasm	Multiple polyglandular tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100094	"" []	2031857	\N	\N	EFO	4	EFO	disease	Multiple polyglandular tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100094	"" []	2031858	\N	\N	EFO	4	EFO	disease	Multiple polyglandular tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100094	"" []	2031859	\N	\N	EFO	4	EFO	disease	Multiple polyglandular tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100094	"" []	3182406	\N	\N	EFO	5	EFO	disposition	Multiple polyglandular tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100094	"" []	4390477	\N	\N	EFO	6	EFO	material property	Multiple polyglandular tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100094	"" []	5409791	\N	\N	EFO	7	EFO	experimental factor	Multiple polyglandular tumor
Orphanet:1001	\N	\N	"" []	Orphanet:1001	"" []	73131	\N	\N	EFO	0	EFO	2q37 microdeletion syndrome	2q37 microdeletion syndrome
Orphanet:262010	Orphanet:1001	\N	"" []	Orphanet:1001	"" []	214229	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 2	2q37 microdeletion syndrome
Orphanet:69028	Orphanet:1001	\N	"" []	Orphanet:1001	"" []	214230	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	2q37 microdeletion syndrome
Orphanet:261771	Orphanet:262010	\N	"" []	Orphanet:1001	"" []	568162	\N	\N	EFO	2	EFO	Partial deletion of chromosome 2	2q37 microdeletion syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1001	"" []	568163	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	2q37 microdeletion syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1001	"" []	568164	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	2q37 microdeletion syndrome
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:1001	"" []	1149669	\N	\N	EFO	3	EFO	Partial autosomal monosomy	2q37 microdeletion syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1001	"" []	1149670	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	2q37 microdeletion syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1001	"" []	1149671	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	2q37 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1001	"" []	2031860	\N	\N	EFO	4	EFO	Autosomal monosomy	2q37 microdeletion syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1001	"" []	2031861	\N	\N	EFO	4	EFO	Rare genetic bone disease	2q37 microdeletion syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1001	"" []	2031862	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	2q37 microdeletion syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1001	"" []	2031863	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	2q37 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1001	"" []	3182407	\N	\N	EFO	5	EFO	Autosomal anomaly	2q37 microdeletion syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1001	"" []	3182408	\N	\N	EFO	5	EFO	genetic disorder	2q37 microdeletion syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1001	"" []	3182409	\N	\N	EFO	5	EFO	bone disease	2q37 microdeletion syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1001	"" []	3182410	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	2q37 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1001	"" []	4390481	\N	\N	EFO	6	EFO	genetic disorder	2q37 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1001	"" []	4390478	\N	\N	EFO	6	EFO	Chromosomal anomaly	2q37 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1001	"" []	6147777	\N	\N	EFO	8	EFO	disease	2q37 microdeletion syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1001	"" []	4390480	\N	\N	EFO	6	EFO	skeletal system disease	2q37 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1001	"" []	5409792	\N	\N	EFO	7	EFO	genetic disorder	2q37 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1001	"" []	6469887	\N	\N	EFO	9	EFO	disposition	2q37 microdeletion syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1001	"" []	5409794	\N	\N	EFO	7	EFO	disease	2q37 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1001	"" []	6848230	\N	\N	EFO	10	EFO	material property	2q37 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1001	"" []	7068364	\N	\N	EFO	11	EFO	experimental factor	2q37 microdeletion syndrome
Orphanet:1003	\N	\N	"" []	Orphanet:1003	"" []	73132	\N	\N	EFO	0	EFO	Scalp defects - postaxial polydactyly	Scalp defects - postaxial polydactyly
Orphanet:183481	Orphanet:1003	\N	"" []	Orphanet:1003	"" []	214231	\N	\N	EFO	1	EFO	Genetic mixed dermis disorder	Scalp defects - postaxial polydactyly
Orphanet:294959	Orphanet:1003	\N	"" []	Orphanet:1003	"" []	214232	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Scalp defects - postaxial polydactyly
Orphanet:183472	Orphanet:183481	\N	"" []	Orphanet:1003	"" []	568165	\N	\N	EFO	2	EFO	Genetic dermis disorder	Scalp defects - postaxial polydactyly
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:1003	"" []	568166	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Scalp defects - postaxial polydactyly
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:1003	"" []	568167	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Scalp defects - postaxial polydactyly
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:1003	"" []	1149672	\N	\N	EFO	3	EFO	Rare genetic skin disease	Scalp defects - postaxial polydactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1003	"" []	1149673	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Scalp defects - postaxial polydactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1003	"" []	1149674	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Scalp defects - postaxial polydactyly
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1003	"" []	2031864	\N	\N	EFO	4	EFO	genetic disorder	Scalp defects - postaxial polydactyly
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1003	"" []	2031865	\N	\N	EFO	4	EFO	skin disease	Scalp defects - postaxial polydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1003	"" []	2031866	\N	\N	EFO	4	EFO	Rare genetic bone disease	Scalp defects - postaxial polydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1003	"" []	2031867	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Scalp defects - postaxial polydactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1003	"" []	2031868	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Scalp defects - postaxial polydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1003	"" []	5181425	\N	\N	EFO	7	EFO	disease	Scalp defects - postaxial polydactyly
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1003	"" []	3182413	\N	\N	EFO	5	EFO	disease	Scalp defects - postaxial polydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1003	"" []	3182414	\N	\N	EFO	5	EFO	genetic disorder	Scalp defects - postaxial polydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1003	"" []	3182415	\N	\N	EFO	5	EFO	bone disease	Scalp defects - postaxial polydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1003	"" []	3182416	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Scalp defects - postaxial polydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1003	"" []	4390485	\N	\N	EFO	6	EFO	genetic disorder	Scalp defects - postaxial polydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1003	"" []	5876681	\N	\N	EFO	8	EFO	disposition	Scalp defects - postaxial polydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1003	"" []	4390484	\N	\N	EFO	6	EFO	skeletal system disease	Scalp defects - postaxial polydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1003	"" []	6469888	\N	\N	EFO	9	EFO	material property	Scalp defects - postaxial polydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1003	"" []	5409796	\N	\N	EFO	7	EFO	disease	Scalp defects - postaxial polydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1003	"" []	6848231	\N	\N	EFO	10	EFO	experimental factor	Scalp defects - postaxial polydactyly
Orphanet:1005	\N	\N	"" []	Orphanet:1005	"" []	73133	\N	\N	EFO	0	EFO	Alopecia-contractures-dwarfism-intellectual disability syndrome	Alopecia-contractures-dwarfism-intellectual disability syndrome
Orphanet:183763	Orphanet:1005	\N	"" []	Orphanet:1005	"" []	214233	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Alopecia-contractures-dwarfism-intellectual disability syndrome
Orphanet:79373	Orphanet:1005	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1005	"" []	214234	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Alopecia-contractures-dwarfism-intellectual disability syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1005	"" []	568168	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Alopecia-contractures-dwarfism-intellectual disability syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1005	"" []	568169	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Alopecia-contractures-dwarfism-intellectual disability syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1005	"" []	568170	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Alopecia-contractures-dwarfism-intellectual disability syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1005	"" []	1149675	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alopecia-contractures-dwarfism-intellectual disability syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1005	"" []	1149676	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Alopecia-contractures-dwarfism-intellectual disability syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1005	"" []	1149677	\N	\N	EFO	3	EFO	Rare genetic skin disease	Alopecia-contractures-dwarfism-intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1005	"" []	2031869	\N	\N	EFO	4	EFO	genetic disorder	Alopecia-contractures-dwarfism-intellectual disability syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1005	"" []	2031870	\N	\N	EFO	4	EFO	genetic disorder	Alopecia-contractures-dwarfism-intellectual disability syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1005	"" []	2031871	\N	\N	EFO	4	EFO	genetic disorder	Alopecia-contractures-dwarfism-intellectual disability syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1005	"" []	2031872	\N	\N	EFO	4	EFO	skin disease	Alopecia-contractures-dwarfism-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1005	"" []	3182418	\N	\N	EFO	5	EFO	disease	Alopecia-contractures-dwarfism-intellectual disability syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1005	"" []	3182419	\N	\N	EFO	5	EFO	disease	Alopecia-contractures-dwarfism-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1005	"" []	4390486	\N	\N	EFO	6	EFO	disposition	Alopecia-contractures-dwarfism-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1005	"" []	5409797	\N	\N	EFO	7	EFO	material property	Alopecia-contractures-dwarfism-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1005	"" []	6147780	\N	\N	EFO	8	EFO	experimental factor	Alopecia-contractures-dwarfism-intellectual disability syndrome
Orphanet:1006	\N	\N	"" []	Orphanet:1006	"" []	73134	\N	\N	EFO	0	EFO	Alopecia antibody deficiency	Alopecia antibody deficiency
Orphanet:79364	Orphanet:1006	\N	"" []	Orphanet:1006	"" []	214235	\N	\N	EFO	1	EFO	Alopecia	Alopecia antibody deficiency
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:1006	"" []	568171	\N	\N	EFO	2	EFO	Genetic hair anomaly	Alopecia antibody deficiency
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:1006	"" []	1149678	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Alopecia antibody deficiency
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1006	"" []	2031873	\N	\N	EFO	4	EFO	Rare genetic skin disease	Alopecia antibody deficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1006	"" []	3182420	\N	\N	EFO	5	EFO	genetic disorder	Alopecia antibody deficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1006	"" []	3182421	\N	\N	EFO	5	EFO	skin disease	Alopecia antibody deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1006	"" []	4390487	\N	\N	EFO	6	EFO	disease	Alopecia antibody deficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1006	"" []	4390488	\N	\N	EFO	6	EFO	disease	Alopecia antibody deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1006	"" []	5409798	\N	\N	EFO	7	EFO	disposition	Alopecia antibody deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1006	"" []	6147781	\N	\N	EFO	8	EFO	material property	Alopecia antibody deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1006	"" []	6631929	\N	\N	EFO	9	EFO	experimental factor	Alopecia antibody deficiency
Orphanet:1008	\N	\N	"" []	Orphanet:1008	"" []	73135	\N	\N	EFO	0	EFO	Alopecia - epilepsy - pyorrhea - intellectual disability	Alopecia - epilepsy - pyorrhea - intellectual disability
Orphanet:183763	Orphanet:1008	\N	"" []	Orphanet:1008	"" []	214236	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Alopecia - epilepsy - pyorrhea - intellectual disability
Orphanet:79364	Orphanet:1008	\N	"" []	Orphanet:1008	"" []	214237	\N	\N	EFO	1	EFO	Alopecia	Alopecia - epilepsy - pyorrhea - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1008	"" []	568172	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Alopecia - epilepsy - pyorrhea - intellectual disability
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:1008	"" []	568173	\N	\N	EFO	2	EFO	Genetic hair anomaly	Alopecia - epilepsy - pyorrhea - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1008	"" []	1149679	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alopecia - epilepsy - pyorrhea - intellectual disability
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:1008	"" []	1149680	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Alopecia - epilepsy - pyorrhea - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1008	"" []	2031874	\N	\N	EFO	4	EFO	genetic disorder	Alopecia - epilepsy - pyorrhea - intellectual disability
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1008	"" []	2031875	\N	\N	EFO	4	EFO	Rare genetic skin disease	Alopecia - epilepsy - pyorrhea - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1008	"" []	4390490	\N	\N	EFO	6	EFO	disease	Alopecia - epilepsy - pyorrhea - intellectual disability
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1008	"" []	3182423	\N	\N	EFO	5	EFO	genetic disorder	Alopecia - epilepsy - pyorrhea - intellectual disability
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1008	"" []	3182424	\N	\N	EFO	5	EFO	skin disease	Alopecia - epilepsy - pyorrhea - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1008	"" []	5181426	\N	\N	EFO	7	EFO	disposition	Alopecia - epilepsy - pyorrhea - intellectual disability
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1008	"" []	4390491	\N	\N	EFO	6	EFO	disease	Alopecia - epilepsy - pyorrhea - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1008	"" []	5996815	\N	\N	EFO	8	EFO	material property	Alopecia - epilepsy - pyorrhea - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1008	"" []	6550442	\N	\N	EFO	9	EFO	experimental factor	Alopecia - epilepsy - pyorrhea - intellectual disability
Orphanet:100924	\N	\N	"" []	Orphanet:100924	"" []	73136	\N	\N	EFO	0	EFO	Porphyria due to ALA dehydratase deficiency	Porphyria due to ALA dehydratase deficiency
Orphanet:95157	Orphanet:100924	\N	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	Orphanet:100924	"" []	214238	\N	\N	EFO	1	EFO	Acute hepatic porphyria	Porphyria due to ALA dehydratase deficiency
Orphanet:207018	Orphanet:95157	\N	"" []	Orphanet:100924	"" []	568174	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Porphyria due to ALA dehydratase deficiency
Orphanet:738	Orphanet:95157	\N	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	Orphanet:100924	"" []	568175	\N	\N	EFO	2	EFO	Porphyria	Porphyria due to ALA dehydratase deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:100924	"" []	1149681	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Porphyria due to ALA dehydratase deficiency
Orphanet:183490	Orphanet:738	\N	"" []	Orphanet:100924	"" []	1149682	\N	\N	EFO	3	EFO	Genetic photodermatosis	Porphyria due to ALA dehydratase deficiency
Orphanet:309813	Orphanet:738	\N	"" []	Orphanet:100924	"" []	1149683	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Porphyria due to ALA dehydratase deficiency
Orphanet:79387	Orphanet:738	\N	"" []	Orphanet:100924	"" []	1149684	\N	\N	EFO	3	EFO	Metabolic disease with skin involvement	Porphyria due to ALA dehydratase deficiency
Orphanet:93593	Orphanet:738	\N	"" []	Orphanet:100924	"" []	1149685	\N	\N	EFO	3	EFO	Nephropathy secondary to a storage or other metabolic disease	Porphyria due to ALA dehydratase deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:100924	"" []	2031876	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Porphyria due to ALA dehydratase deficiency
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:100924	"" []	2031877	\N	\N	EFO	4	EFO	Rare genetic skin disease	Porphyria due to ALA dehydratase deficiency
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:100924	"" []	2031878	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Porphyria due to ALA dehydratase deficiency
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:100924	"" []	2031879	\N	\N	EFO	4	EFO	Rare genetic skin disease	Porphyria due to ALA dehydratase deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:100924	"" []	2031880	\N	\N	EFO	4	EFO	Rare genetic renal disease	Porphyria due to ALA dehydratase deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:100924	"" []	3182425	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Porphyria due to ALA dehydratase deficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100924	"" []	3182426	\N	\N	EFO	5	EFO	genetic disorder	Porphyria due to ALA dehydratase deficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:100924	"" []	3182427	\N	\N	EFO	5	EFO	skin disease	Porphyria due to ALA dehydratase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100924	"" []	3182428	\N	\N	EFO	5	EFO	genetic disorder	Porphyria due to ALA dehydratase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:100924	"" []	3182429	\N	\N	EFO	5	EFO	metabolic disease	Porphyria due to ALA dehydratase deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100924	"" []	3182430	\N	\N	EFO	5	EFO	genetic disorder	Porphyria due to ALA dehydratase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100924	"" []	4390492	\N	\N	EFO	6	EFO	genetic disorder	Porphyria due to ALA dehydratase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100924	"" []	5409800	\N	\N	EFO	7	EFO	disease	Porphyria due to ALA dehydratase deficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100924	"" []	4390494	\N	\N	EFO	6	EFO	disease	Porphyria due to ALA dehydratase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100924	"" []	4390495	\N	\N	EFO	6	EFO	disease	Porphyria due to ALA dehydratase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100924	"" []	5996816	\N	\N	EFO	8	EFO	disposition	Porphyria due to ALA dehydratase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100924	"" []	6550443	\N	\N	EFO	9	EFO	material property	Porphyria due to ALA dehydratase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100924	"" []	6888990	\N	\N	EFO	10	EFO	experimental factor	Porphyria due to ALA dehydratase deficiency
Orphanet:100932	\N	\N	"" []	Orphanet:100932	"" []	73137	\N	\N	EFO	0	EFO	Nuclear oculomotor paralysis	Nuclear oculomotor paralysis
Orphanet:98685	Orphanet:100932	\N	"" []	Orphanet:100932	"" []	214239	\N	\N	EFO	1	EFO	Oculomotor palsy	Nuclear oculomotor paralysis
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:100932	"" []	568176	\N	\N	EFO	2	EFO	palsy	Nuclear oculomotor paralysis
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:100932	"" []	568177	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Nuclear oculomotor paralysis
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100932	"" []	1149686	\N	\N	EFO	3	EFO	nervous system disease	Nuclear oculomotor paralysis
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:100932	"" []	1149687	\N	\N	EFO	3	EFO	Rare genetic eye disease	Nuclear oculomotor paralysis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100932	"" []	2031881	\N	\N	EFO	4	EFO	disease	Nuclear oculomotor paralysis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100932	"" []	2031882	\N	\N	EFO	4	EFO	genetic disorder	Nuclear oculomotor paralysis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:100932	"" []	2031883	\N	\N	EFO	4	EFO	eye disease	Nuclear oculomotor paralysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100932	"" []	4390497	\N	\N	EFO	6	EFO	disposition	Nuclear oculomotor paralysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100932	"" []	3182432	\N	\N	EFO	5	EFO	disease	Nuclear oculomotor paralysis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100932	"" []	3182433	\N	\N	EFO	5	EFO	disease	Nuclear oculomotor paralysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100932	"" []	5181427	\N	\N	EFO	7	EFO	material property	Nuclear oculomotor paralysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100932	"" []	5996817	\N	\N	EFO	8	EFO	experimental factor	Nuclear oculomotor paralysis
Orphanet:100973	\N	\N	"" []	Orphanet:100973	"" []	73138	\N	\N	EFO	0	EFO	FRAXE intellectual disability	FRAXE intellectual disability
Orphanet:98464	Orphanet:100973	\N	"" []	Orphanet:100973	"" []	214240	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	FRAXE intellectual disability
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:100973	"" []	568178	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	FRAXE intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:100973	"" []	1149688	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	FRAXE intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:100973	"" []	2031884	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	FRAXE intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100973	"" []	3182434	\N	\N	EFO	5	EFO	genetic disorder	FRAXE intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100973	"" []	4390498	\N	\N	EFO	6	EFO	disease	FRAXE intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100973	"" []	5409803	\N	\N	EFO	7	EFO	disposition	FRAXE intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100973	"" []	6147784	\N	\N	EFO	8	EFO	material property	FRAXE intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100973	"" []	6631931	\N	\N	EFO	9	EFO	experimental factor	FRAXE intellectual disability
Orphanet:100974	\N	\N	"" []	Orphanet:100974	"" []	73139	\N	\N	EFO	0	EFO	FRAXF syndrome	FRAXF syndrome
EFO:0000508	Orphanet:100974	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100974	"" []	214241	\N	\N	EFO	1	EFO	genetic disorder	FRAXF syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100974	"" []	568179	\N	\N	EFO	2	EFO	disease	FRAXF syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100974	"" []	1149689	\N	\N	EFO	3	EFO	disposition	FRAXF syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100974	"" []	2031885	\N	\N	EFO	4	EFO	material property	FRAXF syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100974	"" []	3182435	\N	\N	EFO	5	EFO	experimental factor	FRAXF syndrome
Orphanet:100976	\N	\N	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	73140	\N	\N	EFO	0	EFO	Bathing suit ichthyosis	Bathing suit ichthyosis
Orphanet:281097	Orphanet:100976	\N	"" []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	214242	\N	\N	EFO	1	EFO	Autosomal recessive congenital ichthyosis	Bathing suit ichthyosis
Orphanet:281082	Orphanet:281097	\N	"" []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	568180	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Bathing suit ichthyosis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	1149690	\N	\N	EFO	3	EFO	Inherited ichthyosis	Bathing suit ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	2031886	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Bathing suit ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	3182436	\N	\N	EFO	5	EFO	Rare genetic skin disease	Bathing suit ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	4390499	\N	\N	EFO	6	EFO	genetic disorder	Bathing suit ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	4390500	\N	\N	EFO	6	EFO	skin disease	Bathing suit ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	5409804	\N	\N	EFO	7	EFO	disease	Bathing suit ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	5409805	\N	\N	EFO	7	EFO	disease	Bathing suit ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	6147785	\N	\N	EFO	8	EFO	disposition	Bathing suit ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	6631932	\N	\N	EFO	9	EFO	material property	Bathing suit ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100976	"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." []	6925339	\N	\N	EFO	10	EFO	experimental factor	Bathing suit ichthyosis
Orphanet:100978	\N	\N	"" []	Orphanet:100978	"" []	73141	\N	\N	EFO	0	EFO	Cloverleaf skull - asphyxiating thoracic dysplasia	Cloverleaf skull - asphyxiating thoracic dysplasia
Orphanet:139393	Orphanet:100978	\N	"" []	Orphanet:100978	"" []	214243	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Cloverleaf skull - asphyxiating thoracic dysplasia
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:100978	"" []	568181	\N	\N	EFO	2	EFO	Craniosynostosis	Cloverleaf skull - asphyxiating thoracic dysplasia
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:100978	"" []	1149691	\N	\N	EFO	3	EFO	Genetic cranial malformation	Cloverleaf skull - asphyxiating thoracic dysplasia
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:100978	"" []	1149692	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Cloverleaf skull - asphyxiating thoracic dysplasia
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:100978	"" []	2031887	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cloverleaf skull - asphyxiating thoracic dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:100978	"" []	2031888	\N	\N	EFO	4	EFO	Rare genetic bone disease	Cloverleaf skull - asphyxiating thoracic dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:100978	"" []	2031889	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Cloverleaf skull - asphyxiating thoracic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100978	"" []	4390503	\N	\N	EFO	6	EFO	genetic disorder	Cloverleaf skull - asphyxiating thoracic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100978	"" []	3182438	\N	\N	EFO	5	EFO	genetic disorder	Cloverleaf skull - asphyxiating thoracic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:100978	"" []	3182439	\N	\N	EFO	5	EFO	bone disease	Cloverleaf skull - asphyxiating thoracic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:100978	"" []	3182440	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cloverleaf skull - asphyxiating thoracic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100978	"" []	5181428	\N	\N	EFO	7	EFO	disease	Cloverleaf skull - asphyxiating thoracic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:100978	"" []	4390502	\N	\N	EFO	6	EFO	skeletal system disease	Cloverleaf skull - asphyxiating thoracic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100978	"" []	5996818	\N	\N	EFO	8	EFO	disposition	Cloverleaf skull - asphyxiating thoracic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100978	"" []	5409807	\N	\N	EFO	7	EFO	disease	Cloverleaf skull - asphyxiating thoracic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100978	"" []	6550444	\N	\N	EFO	9	EFO	material property	Cloverleaf skull - asphyxiating thoracic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100978	"" []	6888991	\N	\N	EFO	10	EFO	experimental factor	Cloverleaf skull - asphyxiating thoracic dysplasia
Orphanet:100979	\N	\N	"" []	Orphanet:100979	"" []	73142	\N	\N	EFO	0	EFO	Autosomal dominant complex spastic paraplegia	Autosomal dominant complex spastic paraplegia
Orphanet:102013	Orphanet:100979	\N	"" []	Orphanet:100979	"" []	214244	\N	\N	EFO	1	EFO	Complex hereditary spastic paraplegia	Autosomal dominant complex spastic paraplegia
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:100979	"" []	568182	\N	\N	EFO	2	EFO	Hereditary spastic paraplegia	Autosomal dominant complex spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100979	"" []	1149693	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Autosomal dominant complex spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100979	"" []	2031890	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal dominant complex spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100979	"" []	2031891	\N	\N	EFO	4	EFO	brain disease	Autosomal dominant complex spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100979	"" []	2031892	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant complex spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100979	"" []	3182441	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant complex spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100979	"" []	3182442	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant complex spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100979	"" []	3182443	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant complex spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100979	"" []	4390504	\N	\N	EFO	6	EFO	disease	Autosomal dominant complex spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100979	"" []	4390505	\N	\N	EFO	6	EFO	disease	Autosomal dominant complex spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100979	"" []	5409808	\N	\N	EFO	7	EFO	disposition	Autosomal dominant complex spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100979	"" []	6147787	\N	\N	EFO	8	EFO	material property	Autosomal dominant complex spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100979	"" []	6631934	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant complex spastic paraplegia
Orphanet:100980	\N	\N	"" []	Orphanet:100980	"" []	73143	\N	\N	EFO	0	EFO	Autosomal dominant pure spastic paraplegia	Autosomal dominant pure spastic paraplegia
Orphanet:102012	Orphanet:100980	\N	"" []	Orphanet:100980	"" []	214245	\N	\N	EFO	1	EFO	Pure hereditary spastic paraplegia	Autosomal dominant pure spastic paraplegia
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:100980	"" []	568183	\N	\N	EFO	2	EFO	Hereditary spastic paraplegia	Autosomal dominant pure spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100980	"" []	1149694	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Autosomal dominant pure spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100980	"" []	2031893	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal dominant pure spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100980	"" []	2031894	\N	\N	EFO	4	EFO	brain disease	Autosomal dominant pure spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100980	"" []	2031895	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant pure spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100980	"" []	3182444	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant pure spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100980	"" []	3182445	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant pure spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100980	"" []	3182446	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant pure spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100980	"" []	4390506	\N	\N	EFO	6	EFO	disease	Autosomal dominant pure spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100980	"" []	4390507	\N	\N	EFO	6	EFO	disease	Autosomal dominant pure spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100980	"" []	5409809	\N	\N	EFO	7	EFO	disposition	Autosomal dominant pure spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100980	"" []	6147788	\N	\N	EFO	8	EFO	material property	Autosomal dominant pure spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100980	"" []	6631935	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant pure spastic paraplegia
Orphanet:100981	\N	\N	"" []	Orphanet:100981	"" []	73144	\N	\N	EFO	0	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive complex spastic paraplegia
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:100981	"" []	214246	\N	\N	EFO	1	EFO	Complex hereditary spastic paraplegia	Autosomal recessive complex spastic paraplegia
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:100981	"" []	568184	\N	\N	EFO	2	EFO	Hereditary spastic paraplegia	Autosomal recessive complex spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100981	"" []	1149695	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Autosomal recessive complex spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100981	"" []	2031896	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal recessive complex spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100981	"" []	2031897	\N	\N	EFO	4	EFO	brain disease	Autosomal recessive complex spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100981	"" []	2031898	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive complex spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100981	"" []	3182447	\N	\N	EFO	5	EFO	nervous system disease	Autosomal recessive complex spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100981	"" []	3182448	\N	\N	EFO	5	EFO	nervous system disease	Autosomal recessive complex spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100981	"" []	3182449	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive complex spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100981	"" []	4390508	\N	\N	EFO	6	EFO	disease	Autosomal recessive complex spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100981	"" []	4390509	\N	\N	EFO	6	EFO	disease	Autosomal recessive complex spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100981	"" []	5409810	\N	\N	EFO	7	EFO	disposition	Autosomal recessive complex spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100981	"" []	6147789	\N	\N	EFO	8	EFO	material property	Autosomal recessive complex spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100981	"" []	6631936	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive complex spastic paraplegia
Orphanet:100982	\N	\N	"" []	Orphanet:100982	"" []	73145	\N	\N	EFO	0	EFO	Autosomal recessive pure spastic paraplegia	Autosomal recessive pure spastic paraplegia
Orphanet:102012	Orphanet:100982	\N	"" []	Orphanet:100982	"" []	214247	\N	\N	EFO	1	EFO	Pure hereditary spastic paraplegia	Autosomal recessive pure spastic paraplegia
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:100982	"" []	568185	\N	\N	EFO	2	EFO	Hereditary spastic paraplegia	Autosomal recessive pure spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100982	"" []	1149696	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Autosomal recessive pure spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100982	"" []	2031899	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal recessive pure spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100982	"" []	2031900	\N	\N	EFO	4	EFO	brain disease	Autosomal recessive pure spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100982	"" []	2031901	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive pure spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100982	"" []	3182450	\N	\N	EFO	5	EFO	nervous system disease	Autosomal recessive pure spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100982	"" []	3182451	\N	\N	EFO	5	EFO	nervous system disease	Autosomal recessive pure spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100982	"" []	3182452	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive pure spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100982	"" []	4390510	\N	\N	EFO	6	EFO	disease	Autosomal recessive pure spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100982	"" []	4390511	\N	\N	EFO	6	EFO	disease	Autosomal recessive pure spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100982	"" []	5409811	\N	\N	EFO	7	EFO	disposition	Autosomal recessive pure spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100982	"" []	6147790	\N	\N	EFO	8	EFO	material property	Autosomal recessive pure spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100982	"" []	6631937	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive pure spastic paraplegia
Orphanet:100984	\N	\N	"" []	Orphanet:100984	"" []	73146	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 3	Autosomal dominant spastic paraplegia type 3
Orphanet:320342	Orphanet:100984	\N	"" []	Orphanet:100984	"" []	214248	\N	\N	EFO	1	EFO	Pure or complex autosomal dominant spastic paraplegia	Autosomal dominant spastic paraplegia type 3
Orphanet:320335	Orphanet:320342	\N	"" []	Orphanet:100984	"" []	568186	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 3
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:100984	"" []	1149697	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 3
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100984	"" []	2031902	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 3
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100984	"" []	3182453	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 3
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100984	"" []	3182454	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 3
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100984	"" []	3182455	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 3
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100984	"" []	4390512	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 3
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100984	"" []	4390513	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100984	"" []	4390514	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100984	"" []	5409812	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100984	"" []	5409813	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100984	"" []	6147791	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100984	"" []	6631938	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100984	"" []	6925340	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 3
Orphanet:100985	\N	\N	"" []	Orphanet:100985	"" []	73147	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 4	Autosomal dominant spastic paraplegia type 4
Orphanet:320342	Orphanet:100985	\N	"" []	Orphanet:100985	"" []	214249	\N	\N	EFO	1	EFO	Pure or complex autosomal dominant spastic paraplegia	Autosomal dominant spastic paraplegia type 4
Orphanet:320335	Orphanet:320342	\N	"" []	Orphanet:100985	"" []	568187	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 4
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:100985	"" []	1149698	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 4
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100985	"" []	2031903	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 4
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100985	"" []	3182456	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 4
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100985	"" []	3182457	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 4
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100985	"" []	3182458	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 4
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100985	"" []	4390515	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 4
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100985	"" []	4390516	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100985	"" []	4390517	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 4
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100985	"" []	5409814	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100985	"" []	5409815	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100985	"" []	6147792	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100985	"" []	6631939	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100985	"" []	6925341	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 4
Orphanet:100986	\N	\N	"" []	Orphanet:100986	"" []	73148	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 5A	Autosomal recessive spastic paraplegia type 5A
Orphanet:320346	Orphanet:100986	\N	"" []	Orphanet:100986	"" []	214250	\N	\N	EFO	1	EFO	Pure or complex autosomal recessive spastic paraplegia	Autosomal recessive spastic paraplegia type 5A
Orphanet:320335	Orphanet:320346	\N	"" []	Orphanet:100986	"" []	568188	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 5A
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:100986	"" []	1149699	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 5A
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100986	"" []	2031904	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 5A
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100986	"" []	3182459	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 5A
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100986	"" []	3182460	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 5A
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100986	"" []	3182461	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 5A
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100986	"" []	4390518	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 5A
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100986	"" []	4390519	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 5A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100986	"" []	4390520	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 5A
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100986	"" []	5409816	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 5A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100986	"" []	5409817	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 5A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100986	"" []	6147793	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 5A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100986	"" []	6631940	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 5A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100986	"" []	6925342	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 5A
Orphanet:100988	\N	\N	"" []	Orphanet:100988	"" []	73149	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 6	Autosomal dominant spastic paraplegia type 6
Orphanet:320342	Orphanet:100988	\N	"" []	Orphanet:100988	"" []	214251	\N	\N	EFO	1	EFO	Pure or complex autosomal dominant spastic paraplegia	Autosomal dominant spastic paraplegia type 6
Orphanet:320335	Orphanet:320342	\N	"" []	Orphanet:100988	"" []	568189	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 6
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:100988	"" []	1149700	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 6
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100988	"" []	2031905	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 6
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100988	"" []	3182462	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 6
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100988	"" []	3182463	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 6
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100988	"" []	3182464	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 6
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100988	"" []	4390521	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 6
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100988	"" []	4390522	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 6
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100988	"" []	4390523	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 6
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100988	"" []	5409818	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100988	"" []	5409819	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100988	"" []	6147794	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100988	"" []	6631941	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100988	"" []	6925343	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 6
Orphanet:100989	\N	\N	"" []	Orphanet:100989	"" []	73150	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 8	Autosomal dominant spastic paraplegia type 8
Orphanet:100980	Orphanet:100989	\N	"" []	Orphanet:100989	"" []	214252	\N	\N	EFO	1	EFO	Autosomal dominant pure spastic paraplegia	Autosomal dominant spastic paraplegia type 8
Orphanet:102012	Orphanet:100980	\N	"" []	Orphanet:100989	"" []	568190	\N	\N	EFO	2	EFO	Pure hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 8
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:100989	"" []	1149701	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 8
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100989	"" []	2031906	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 8
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100989	"" []	3182465	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 8
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100989	"" []	3182466	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 8
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100989	"" []	3182467	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 8
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100989	"" []	4390524	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 8
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100989	"" []	4390525	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 8
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100989	"" []	4390526	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 8
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100989	"" []	5409820	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100989	"" []	5409821	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100989	"" []	6147795	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100989	"" []	6631942	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100989	"" []	6925344	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 8
Orphanet:100990	\N	\N	"" []	Orphanet:100990	"" []	73151	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 9	Autosomal dominant spastic paraplegia type 9
Orphanet:100979	Orphanet:100990	\N	"" []	Orphanet:100990	"" []	214253	\N	\N	EFO	1	EFO	Autosomal dominant complex spastic paraplegia	Autosomal dominant spastic paraplegia type 9
Orphanet:102013	Orphanet:100979	\N	"" []	Orphanet:100990	"" []	568191	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 9
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:100990	"" []	1149702	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 9
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100990	"" []	2031907	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 9
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100990	"" []	3182468	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 9
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100990	"" []	3182469	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 9
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100990	"" []	3182470	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 9
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100990	"" []	4390527	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 9
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100990	"" []	4390528	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 9
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100990	"" []	4390529	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 9
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100990	"" []	5409822	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100990	"" []	5409823	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100990	"" []	6147796	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100990	"" []	6631943	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100990	"" []	6925345	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 9
Orphanet:100991	\N	\N	"" []	Orphanet:100991	"" []	73152	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 10	Autosomal dominant spastic paraplegia type 10
Orphanet:320342	Orphanet:100991	\N	"" []	Orphanet:100991	"" []	214254	\N	\N	EFO	1	EFO	Pure or complex autosomal dominant spastic paraplegia	Autosomal dominant spastic paraplegia type 10
Orphanet:320335	Orphanet:320342	\N	"" []	Orphanet:100991	"" []	568192	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 10
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:100991	"" []	1149703	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 10
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100991	"" []	2031908	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 10
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100991	"" []	3182471	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 10
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100991	"" []	3182472	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 10
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100991	"" []	3182473	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 10
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100991	"" []	4390530	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 10
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100991	"" []	4390531	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 10
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100991	"" []	4390532	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 10
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100991	"" []	5409824	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 10
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100991	"" []	5409825	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 10
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100991	"" []	6147797	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 10
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100991	"" []	6631944	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 10
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100991	"" []	6925346	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 10
Orphanet:100993	\N	\N	"" []	Orphanet:100993	"" []	73153	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 12	Autosomal dominant spastic paraplegia type 12
Orphanet:100980	Orphanet:100993	\N	"" []	Orphanet:100993	"" []	214255	\N	\N	EFO	1	EFO	Autosomal dominant pure spastic paraplegia	Autosomal dominant spastic paraplegia type 12
Orphanet:102012	Orphanet:100980	\N	"" []	Orphanet:100993	"" []	568193	\N	\N	EFO	2	EFO	Pure hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 12
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:100993	"" []	1149704	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 12
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100993	"" []	2031909	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 12
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100993	"" []	3182474	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 12
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100993	"" []	3182475	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 12
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100993	"" []	3182476	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 12
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100993	"" []	4390533	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 12
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100993	"" []	4390534	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 12
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100993	"" []	4390535	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 12
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100993	"" []	5409826	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 12
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100993	"" []	5409827	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 12
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100993	"" []	6147798	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 12
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100993	"" []	6631945	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 12
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100993	"" []	6925347	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 12
Orphanet:100994	\N	\N	"" []	Orphanet:100994	"" []	73154	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 13	Autosomal dominant spastic paraplegia type 13
Orphanet:320342	Orphanet:100994	\N	"" []	Orphanet:100994	"" []	214256	\N	\N	EFO	1	EFO	Pure or complex autosomal dominant spastic paraplegia	Autosomal dominant spastic paraplegia type 13
Orphanet:320335	Orphanet:320342	\N	"" []	Orphanet:100994	"" []	568194	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 13
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:100994	"" []	1149705	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 13
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100994	"" []	2031910	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 13
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100994	"" []	3182477	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 13
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100994	"" []	3182478	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 13
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100994	"" []	3182479	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 13
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100994	"" []	4390536	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 13
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100994	"" []	4390537	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 13
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100994	"" []	4390538	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 13
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100994	"" []	5409828	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 13
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100994	"" []	5409829	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 13
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100994	"" []	6147799	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 13
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100994	"" []	6631946	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 13
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100994	"" []	6925348	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 13
Orphanet:100995	\N	\N	"" []	Orphanet:100995	"" []	73155	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 14	Autosomal recessive spastic paraplegia type 14
Orphanet:320346	Orphanet:100995	\N	"" []	Orphanet:100995	"" []	214257	\N	\N	EFO	1	EFO	Pure or complex autosomal recessive spastic paraplegia	Autosomal recessive spastic paraplegia type 14
Orphanet:320335	Orphanet:320346	\N	"" []	Orphanet:100995	"" []	568195	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 14
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:100995	"" []	1149706	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 14
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100995	"" []	2031911	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 14
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100995	"" []	3182480	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 14
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100995	"" []	3182481	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 14
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100995	"" []	3182482	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 14
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100995	"" []	4390539	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 14
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100995	"" []	4390540	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 14
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100995	"" []	4390541	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 14
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100995	"" []	5409830	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 14
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100995	"" []	5409831	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 14
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100995	"" []	6147800	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 14
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100995	"" []	6631947	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 14
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100995	"" []	6925349	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 14
Orphanet:100996	\N	\N	"" []	Orphanet:100996	"" []	73156	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 15	Autosomal recessive spastic paraplegia type 15
Orphanet:100981	Orphanet:100996	\N	"" []	Orphanet:100996	"" []	214258	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 15
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:100996	"" []	568196	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 15
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:100996	"" []	1149707	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 15
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100996	"" []	2031912	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 15
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100996	"" []	3182483	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 15
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100996	"" []	3182484	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 15
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100996	"" []	3182485	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 15
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100996	"" []	4390542	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 15
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100996	"" []	4390543	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 15
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100996	"" []	4390544	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 15
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100996	"" []	5409832	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 15
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100996	"" []	5409833	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 15
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100996	"" []	6147801	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 15
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100996	"" []	6631948	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 15
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100996	"" []	6925350	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 15
Orphanet:100997	\N	\N	"" []	Orphanet:100997	"" []	73157	\N	\N	EFO	0	EFO	X-linked spastic paraplegia type 16	X-linked spastic paraplegia type 16
Orphanet:320350	Orphanet:100997	\N	"" []	Orphanet:100997	"" []	214259	\N	\N	EFO	1	EFO	Pure or complex X-linked spastic paraplegia	X-linked spastic paraplegia type 16
Orphanet:320335	Orphanet:320350	\N	"" []	Orphanet:100997	"" []	568197	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	X-linked spastic paraplegia type 16
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:100997	"" []	1149708	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	X-linked spastic paraplegia type 16
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100997	"" []	2031913	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	X-linked spastic paraplegia type 16
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100997	"" []	3182486	\N	\N	EFO	5	EFO	neurodegenerative disease	X-linked spastic paraplegia type 16
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100997	"" []	3182487	\N	\N	EFO	5	EFO	brain disease	X-linked spastic paraplegia type 16
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100997	"" []	3182488	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked spastic paraplegia type 16
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100997	"" []	4390545	\N	\N	EFO	6	EFO	nervous system disease	X-linked spastic paraplegia type 16
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100997	"" []	4390546	\N	\N	EFO	6	EFO	nervous system disease	X-linked spastic paraplegia type 16
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100997	"" []	4390547	\N	\N	EFO	6	EFO	genetic disorder	X-linked spastic paraplegia type 16
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100997	"" []	5409834	\N	\N	EFO	7	EFO	disease	X-linked spastic paraplegia type 16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100997	"" []	5409835	\N	\N	EFO	7	EFO	disease	X-linked spastic paraplegia type 16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100997	"" []	6147802	\N	\N	EFO	8	EFO	disposition	X-linked spastic paraplegia type 16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100997	"" []	6631949	\N	\N	EFO	9	EFO	material property	X-linked spastic paraplegia type 16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100997	"" []	6925351	\N	\N	EFO	10	EFO	experimental factor	X-linked spastic paraplegia type 16
Orphanet:100998	\N	\N	"" []	Orphanet:100998	"" []	73158	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 17	Autosomal dominant spastic paraplegia type 17
Orphanet:100979	Orphanet:100998	\N	"" []	Orphanet:100998	"" []	214260	\N	\N	EFO	1	EFO	Autosomal dominant complex spastic paraplegia	Autosomal dominant spastic paraplegia type 17
Orphanet:140465	Orphanet:100998	\N	"" []	Orphanet:100998	"" []	214261	\N	\N	EFO	1	EFO	Autosomal dominant distal hereditary motor neuropathy	Autosomal dominant spastic paraplegia type 17
Orphanet:102013	Orphanet:100979	\N	"" []	Orphanet:100998	"" []	568198	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 17
Orphanet:206713	Orphanet:140465	\N	"" []	Orphanet:100998	"" []	568199	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	Autosomal dominant spastic paraplegia type 17
Orphanet:53739	Orphanet:140465	\N	"" []	Orphanet:100998	"" []	568200	\N	\N	EFO	2	EFO	Distal hereditary motor neuropathy	Autosomal dominant spastic paraplegia type 17
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:100998	"" []	1149709	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 17
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:100998	"" []	1149710	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Autosomal dominant spastic paraplegia type 17
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:100998	"" []	1149711	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant spastic paraplegia type 17
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100998	"" []	2031914	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 17
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:100998	"" []	2031915	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal dominant spastic paraplegia type 17
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:100998	"" []	2031916	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 17
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100998	"" []	3182489	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 17
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100998	"" []	3182490	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 17
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100998	"" []	3182491	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 17
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:100998	"" []	3182492	\N	\N	EFO	5	EFO	muscular disease	Autosomal dominant spastic paraplegia type 17
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:100998	"" []	3182493	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 17
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100998	"" []	4390550	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 17
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100998	"" []	4390548	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 17
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100998	"" []	4390549	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 17
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:100998	"" []	4390551	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal dominant spastic paraplegia type 17
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100998	"" []	5181429	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 17
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100998	"" []	5409836	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 17
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100998	"" []	5409837	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 17
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100998	"" []	5996819	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 17
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100998	"" []	6550445	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 17
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100998	"" []	6888992	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 17
Orphanet:100999	\N	\N	"" []	Orphanet:100999	"" []	73159	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 19	Autosomal dominant spastic paraplegia type 19
Orphanet:100980	Orphanet:100999	\N	"" []	Orphanet:100999	"" []	214262	\N	\N	EFO	1	EFO	Autosomal dominant pure spastic paraplegia	Autosomal dominant spastic paraplegia type 19
Orphanet:102012	Orphanet:100980	\N	"" []	Orphanet:100999	"" []	568201	\N	\N	EFO	2	EFO	Pure hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 19
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:100999	"" []	1149712	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 19
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:100999	"" []	2031917	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 19
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:100999	"" []	3182495	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 19
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:100999	"" []	3182496	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 19
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:100999	"" []	3182497	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 19
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100999	"" []	4390553	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 19
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:100999	"" []	4390554	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 19
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:100999	"" []	4390555	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 19
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100999	"" []	5409839	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 19
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:100999	"" []	5409840	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 19
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:100999	"" []	6147804	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 19
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:100999	"" []	6631951	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 19
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:100999	"" []	6925352	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 19
Orphanet:101	\N	\N	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	73160	\N	\N	EFO	0	EFO	Dentatorubral pallidoluysian atrophy	Dentatorubral pallidoluysian atrophy
Orphanet:158266	Orphanet:101	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	214263	\N	\N	EFO	1	EFO	Huntington disease-like syndrome	Dentatorubral pallidoluysian atrophy
Orphanet:94149	Orphanet:101	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	214264	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 4	Dentatorubral pallidoluysian atrophy
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	568202	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Dentatorubral pallidoluysian atrophy
Orphanet:99	Orphanet:94149	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	568203	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Dentatorubral pallidoluysian atrophy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	5409844	\N	\N	EFO	7	EFO	neurodegenerative disease	Dentatorubral pallidoluysian atrophy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	5409845	\N	\N	EFO	7	EFO	brain disease	Dentatorubral pallidoluysian atrophy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	5409846	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Dentatorubral pallidoluysian atrophy
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	1149716	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Dentatorubral pallidoluysian atrophy
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	1149717	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Dentatorubral pallidoluysian atrophy
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	1149718	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Dentatorubral pallidoluysian atrophy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	5801830	\N	\N	EFO	8	EFO	nervous system disease	Dentatorubral pallidoluysian atrophy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	5801831	\N	\N	EFO	8	EFO	nervous system disease	Dentatorubral pallidoluysian atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	5801832	\N	\N	EFO	8	EFO	genetic disorder	Dentatorubral pallidoluysian atrophy
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	2031921	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Dentatorubral pallidoluysian atrophy
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	2031922	\N	\N	EFO	4	EFO	Ataxia with dementia	Dentatorubral pallidoluysian atrophy
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	2031923	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Dentatorubral pallidoluysian atrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	6378794	\N	\N	EFO	9	EFO	disease	Dentatorubral pallidoluysian atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	6378795	\N	\N	EFO	9	EFO	disease	Dentatorubral pallidoluysian atrophy
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	3182501	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Dentatorubral pallidoluysian atrophy
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	3182502	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Dentatorubral pallidoluysian atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	6778586	\N	\N	EFO	10	EFO	disposition	Dentatorubral pallidoluysian atrophy
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	4390557	\N	\N	EFO	6	EFO	Genetic dementia	Dentatorubral pallidoluysian atrophy
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	4390558	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Dentatorubral pallidoluysian atrophy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	4390559	\N	\N	EFO	6	EFO	Rare genetic eye disease	Dentatorubral pallidoluysian atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	7029804	\N	\N	EFO	11	EFO	material property	Dentatorubral pallidoluysian atrophy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	5409842	\N	\N	EFO	7	EFO	brain disease	Dentatorubral pallidoluysian atrophy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	5409843	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Dentatorubral pallidoluysian atrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	5409847	\N	\N	EFO	7	EFO	genetic disorder	Dentatorubral pallidoluysian atrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	5409848	\N	\N	EFO	7	EFO	eye disease	Dentatorubral pallidoluysian atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	7181741	\N	\N	EFO	12	EFO	experimental factor	Dentatorubral pallidoluysian atrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101	"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." []	6147807	\N	\N	EFO	8	EFO	disease	Dentatorubral pallidoluysian atrophy
Orphanet:1010	\N	\N	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	73161	\N	\N	EFO	0	EFO	Autosomal dominant palmoplantar keratoderma and congenital alopecia	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Orphanet:79373	Orphanet:1010	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	214265	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Orphanet:98352	Orphanet:1010	\N	"" []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	214266	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	568204	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	568205	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	568206	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	1149719	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	1149720	\N	\N	EFO	3	EFO	Rare genetic skin disease	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	1149721	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Autosomal dominant palmoplantar keratoderma and congenital alopecia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	2031924	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant palmoplantar keratoderma and congenital alopecia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	5409850	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant palmoplantar keratoderma and congenital alopecia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	5409851	\N	\N	EFO	7	EFO	skin disease	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	2031927	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Autosomal dominant palmoplantar keratoderma and congenital alopecia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	5817426	\N	\N	EFO	8	EFO	disease	Autosomal dominant palmoplantar keratoderma and congenital alopecia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	5817427	\N	\N	EFO	8	EFO	disease	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	3182505	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Autosomal dominant palmoplantar keratoderma and congenital alopecia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	6409781	\N	\N	EFO	9	EFO	disposition	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	4390561	\N	\N	EFO	6	EFO	Rare genetic skin disease	Autosomal dominant palmoplantar keratoderma and congenital alopecia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	6807639	\N	\N	EFO	10	EFO	material property	Autosomal dominant palmoplantar keratoderma and congenital alopecia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1010	"Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." []	7048516	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Orphanet:101000	\N	\N	"" []	Orphanet:101000	"" []	73162	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 20	Autosomal recessive spastic paraplegia type 20
Orphanet:100981	Orphanet:101000	\N	"" []	Orphanet:101000	"" []	214267	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 20
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:101000	"" []	568207	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 20
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:101000	"" []	1149722	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 20
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:101000	"" []	2031928	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 20
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101000	"" []	3182506	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 20
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101000	"" []	3182507	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 20
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101000	"" []	3182508	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 20
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101000	"" []	4390562	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 20
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101000	"" []	4390563	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 20
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101000	"" []	4390564	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 20
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101000	"" []	5409852	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 20
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101000	"" []	5409853	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 20
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101000	"" []	6147809	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 20
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101000	"" []	6631952	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 20
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101000	"" []	6925353	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 20
Orphanet:101001	\N	\N	"" []	Orphanet:101001	"" []	73163	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 21	Autosomal recessive spastic paraplegia type 21
Orphanet:320346	Orphanet:101001	\N	"" []	Orphanet:101001	"" []	214268	\N	\N	EFO	1	EFO	Pure or complex autosomal recessive spastic paraplegia	Autosomal recessive spastic paraplegia type 21
Orphanet:320335	Orphanet:320346	\N	"" []	Orphanet:101001	"" []	568208	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 21
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:101001	"" []	1149723	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 21
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:101001	"" []	2031929	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 21
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101001	"" []	3182509	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 21
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101001	"" []	3182510	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 21
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101001	"" []	3182511	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 21
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101001	"" []	4390565	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 21
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101001	"" []	4390566	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 21
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101001	"" []	4390567	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 21
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101001	"" []	5409854	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 21
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101001	"" []	5409855	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 21
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101001	"" []	6147810	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 21
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101001	"" []	6631953	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 21
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101001	"" []	6925354	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 21
Orphanet:101003	\N	\N	"" []	Orphanet:101003	"" []	73164	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 23	Autosomal recessive spastic paraplegia type 23
Orphanet:100981	Orphanet:101003	\N	"" []	Orphanet:101003	"" []	214269	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 23
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:101003	"" []	568209	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 23
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:101003	"" []	1149724	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 23
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:101003	"" []	2031930	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 23
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101003	"" []	3182512	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 23
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101003	"" []	3182513	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 23
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101003	"" []	3182514	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 23
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101003	"" []	4390568	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 23
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101003	"" []	4390569	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 23
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101003	"" []	4390570	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 23
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101003	"" []	5409856	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 23
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101003	"" []	5409857	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 23
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101003	"" []	6147811	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 23
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101003	"" []	6631954	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 23
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101003	"" []	6925355	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 23
Orphanet:101004	\N	\N	"" []	Orphanet:101004	"" []	73165	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 24	Autosomal recessive spastic paraplegia type 24
Orphanet:100981	Orphanet:101004	\N	"" []	Orphanet:101004	"" []	214270	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 24
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:101004	"" []	568210	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 24
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:101004	"" []	1149725	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 24
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:101004	"" []	2031931	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 24
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101004	"" []	3182515	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 24
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101004	"" []	3182516	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 24
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101004	"" []	3182517	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 24
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101004	"" []	4390571	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 24
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101004	"" []	4390572	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 24
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101004	"" []	4390573	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 24
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101004	"" []	5409858	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 24
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101004	"" []	5409859	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 24
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101004	"" []	6147812	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 24
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101004	"" []	6631955	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 24
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101004	"" []	6925356	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 24
Orphanet:101005	\N	\N	"" []	Orphanet:101005	"" []	73166	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 25	Autosomal recessive spastic paraplegia type 25
Orphanet:100981	Orphanet:101005	\N	"" []	Orphanet:101005	"" []	214271	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 25
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:101005	"" []	568211	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 25
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:101005	"" []	1149726	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 25
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:101005	"" []	2031932	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 25
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101005	"" []	3182518	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 25
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101005	"" []	3182519	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 25
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101005	"" []	3182520	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 25
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101005	"" []	4390574	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 25
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101005	"" []	4390575	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 25
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101005	"" []	4390576	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 25
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101005	"" []	5409860	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 25
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101005	"" []	5409861	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 25
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101005	"" []	6147813	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 25
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101005	"" []	6631956	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 25
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101005	"" []	6925357	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 25
Orphanet:101006	\N	\N	"" []	Orphanet:101006	"" []	73167	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 26	Autosomal recessive spastic paraplegia type 26
Orphanet:100981	Orphanet:101006	\N	"" []	Orphanet:101006	"" []	214272	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 26
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:101006	"" []	568212	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 26
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:101006	"" []	1149727	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 26
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:101006	"" []	2031933	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 26
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101006	"" []	3182521	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 26
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101006	"" []	3182522	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 26
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101006	"" []	3182523	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 26
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101006	"" []	4390577	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 26
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101006	"" []	4390578	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 26
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101006	"" []	4390579	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 26
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101006	"" []	5409862	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 26
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101006	"" []	5409863	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 26
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101006	"" []	6147814	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 26
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101006	"" []	6631957	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 26
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101006	"" []	6925358	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 26
Orphanet:101007	\N	\N	"" []	Orphanet:101007	"" []	73168	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 27	Autosomal recessive spastic paraplegia type 27
Orphanet:100981	Orphanet:101007	\N	"" []	Orphanet:101007	"" []	214273	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 27
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:101007	"" []	568213	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 27
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:101007	"" []	1149728	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 27
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:101007	"" []	2031934	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 27
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101007	"" []	3182524	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 27
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101007	"" []	3182525	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 27
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101007	"" []	3182526	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 27
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101007	"" []	4390580	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 27
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101007	"" []	4390581	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 27
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101007	"" []	4390582	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 27
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101007	"" []	5409864	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 27
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101007	"" []	5409865	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 27
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101007	"" []	6147815	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 27
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101007	"" []	6631958	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 27
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101007	"" []	6925359	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 27
Orphanet:101008	\N	\N	"" []	Orphanet:101008	"" []	73169	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 28	Autosomal recessive spastic paraplegia type 28
Orphanet:100982	Orphanet:101008	\N	"" []	Orphanet:101008	"" []	214274	\N	\N	EFO	1	EFO	Autosomal recessive pure spastic paraplegia	Autosomal recessive spastic paraplegia type 28
Orphanet:102012	Orphanet:100982	\N	"" []	Orphanet:101008	"" []	568214	\N	\N	EFO	2	EFO	Pure hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 28
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:101008	"" []	1149729	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 28
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:101008	"" []	2031935	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 28
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101008	"" []	3182527	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 28
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101008	"" []	3182528	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 28
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101008	"" []	3182529	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 28
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101008	"" []	4390583	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 28
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101008	"" []	4390584	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 28
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101008	"" []	4390585	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 28
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101008	"" []	5409866	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 28
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101008	"" []	5409867	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 28
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101008	"" []	6147816	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 28
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101008	"" []	6631959	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 28
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101008	"" []	6925360	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 28
Orphanet:101009	\N	\N	"" []	Orphanet:101009	"" []	73170	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 29	Autosomal dominant spastic paraplegia type 29
Orphanet:100979	Orphanet:101009	\N	"" []	Orphanet:101009	"" []	214275	\N	\N	EFO	1	EFO	Autosomal dominant complex spastic paraplegia	Autosomal dominant spastic paraplegia type 29
Orphanet:102013	Orphanet:100979	\N	"" []	Orphanet:101009	"" []	568215	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 29
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:101009	"" []	1149730	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 29
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:101009	"" []	2031936	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 29
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101009	"" []	3182530	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 29
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101009	"" []	3182531	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 29
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101009	"" []	3182532	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 29
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101009	"" []	4390586	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 29
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101009	"" []	4390587	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 29
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101009	"" []	4390588	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 29
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101009	"" []	5409868	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 29
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101009	"" []	5409869	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 29
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101009	"" []	6147817	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 29
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101009	"" []	6631960	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 29
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101009	"" []	6925361	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 29
Orphanet:101010	\N	\N	"" []	Orphanet:101010	"" []	73171	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 30	Autosomal recessive spastic paraplegia type 30
Orphanet:320346	Orphanet:101010	\N	"" []	Orphanet:101010	"" []	214276	\N	\N	EFO	1	EFO	Pure or complex autosomal recessive spastic paraplegia	Autosomal recessive spastic paraplegia type 30
Orphanet:320335	Orphanet:320346	\N	"" []	Orphanet:101010	"" []	568216	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 30
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:101010	"" []	1149731	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 30
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:101010	"" []	2031937	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 30
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101010	"" []	3182533	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 30
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101010	"" []	3182534	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 30
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101010	"" []	3182535	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 30
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101010	"" []	4390589	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 30
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101010	"" []	4390590	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 30
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101010	"" []	4390591	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 30
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101010	"" []	5409870	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 30
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101010	"" []	5409871	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 30
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101010	"" []	6147818	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 30
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101010	"" []	6631961	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 30
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101010	"" []	6925362	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 30
Orphanet:101011	\N	\N	"" []	Orphanet:101011	"" []	73172	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 31	Autosomal dominant spastic paraplegia type 31
Orphanet:320342	Orphanet:101011	\N	"" []	Orphanet:101011	"" []	214277	\N	\N	EFO	1	EFO	Pure or complex autosomal dominant spastic paraplegia	Autosomal dominant spastic paraplegia type 31
Orphanet:320335	Orphanet:320342	\N	"" []	Orphanet:101011	"" []	568217	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 31
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:101011	"" []	1149732	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 31
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:101011	"" []	2031938	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 31
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101011	"" []	3182536	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 31
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101011	"" []	3182537	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 31
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101011	"" []	3182538	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 31
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101011	"" []	4390592	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 31
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101011	"" []	4390593	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 31
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101011	"" []	4390594	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 31
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101011	"" []	5409872	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 31
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101011	"" []	5409873	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 31
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101011	"" []	6147819	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 31
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101011	"" []	6631962	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 31
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101011	"" []	6925363	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 31
Orphanet:101016	\N	\N	"" []	Orphanet:101016	"" []	73173	\N	\N	EFO	0	EFO	Romano-Ward syndrome	Romano-Ward syndrome
Orphanet:768	Orphanet:101016	\N	"" []	Orphanet:101016	"" []	214278	\N	\N	EFO	1	EFO	Familial long QT syndrome	Romano-Ward syndrome
Orphanet:101934	Orphanet:768	\N	"" []	Orphanet:101016	"" []	568218	\N	\N	EFO	2	EFO	Genetic cardiac rhythm disease	Romano-Ward syndrome
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:101016	"" []	1149733	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Romano-Ward syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101016	"" []	2031939	\N	\N	EFO	4	EFO	genetic disorder	Romano-Ward syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:101016	"" []	2031940	\N	\N	EFO	4	EFO	heart disease	Romano-Ward syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101016	"" []	3182539	\N	\N	EFO	5	EFO	disease	Romano-Ward syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:101016	"" []	3182540	\N	\N	EFO	5	EFO	cardiovascular disease	Romano-Ward syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101016	"" []	5409875	\N	\N	EFO	7	EFO	disposition	Romano-Ward syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101016	"" []	4390596	\N	\N	EFO	6	EFO	disease	Romano-Ward syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101016	"" []	5996821	\N	\N	EFO	8	EFO	material property	Romano-Ward syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101016	"" []	6550447	\N	\N	EFO	9	EFO	experimental factor	Romano-Ward syndrome
Orphanet:101022	\N	\N	"" []	Orphanet:101022	"" []	73174	\N	\N	EFO	0	EFO	Mediterranean macrothrombocytopenia	Mediterranean macrothrombocytopenia
Orphanet:220452	Orphanet:101022	\N	"" []	Orphanet:101022	"" []	214279	\N	\N	EFO	1	EFO	Inherited giant platelet disorder	Mediterranean macrothrombocytopenia
Orphanet:275729	Orphanet:220452	\N	"" []	Orphanet:101022	"" []	568219	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Mediterranean macrothrombocytopenia
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:101022	"" []	1149734	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Mediterranean macrothrombocytopenia
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:101022	"" []	2031941	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Mediterranean macrothrombocytopenia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:101022	"" []	3182541	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Mediterranean macrothrombocytopenia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101022	"" []	4390597	\N	\N	EFO	6	EFO	genetic disorder	Mediterranean macrothrombocytopenia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:101022	"" []	4390598	\N	\N	EFO	6	EFO	hematological system disease	Mediterranean macrothrombocytopenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101022	"" []	5409876	\N	\N	EFO	7	EFO	disease	Mediterranean macrothrombocytopenia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101022	"" []	5409877	\N	\N	EFO	7	EFO	disease	Mediterranean macrothrombocytopenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101022	"" []	6147821	\N	\N	EFO	8	EFO	disposition	Mediterranean macrothrombocytopenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101022	"" []	6631963	\N	\N	EFO	9	EFO	material property	Mediterranean macrothrombocytopenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101022	"" []	6925364	\N	\N	EFO	10	EFO	experimental factor	Mediterranean macrothrombocytopenia
Orphanet:101028	\N	\N	"" []	Orphanet:101028	"" []	73175	\N	\N	EFO	0	EFO	Transaldolase deficiency	Transaldolase deficiency
Orphanet:79186	Orphanet:101028	\N	"" []	Orphanet:101028	"" []	214280	\N	\N	EFO	1	EFO	Disorder of pentose phosphate metabolism	Transaldolase deficiency
Orphanet:79161	Orphanet:79186	\N	"" []	Orphanet:101028	"" []	568220	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Transaldolase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:101028	"" []	1149735	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Transaldolase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101028	"" []	2031942	\N	\N	EFO	4	EFO	genetic disorder	Transaldolase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:101028	"" []	2031943	\N	\N	EFO	4	EFO	metabolic disease	Transaldolase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101028	"" []	3182542	\N	\N	EFO	5	EFO	disease	Transaldolase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101028	"" []	3182543	\N	\N	EFO	5	EFO	disease	Transaldolase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101028	"" []	4390599	\N	\N	EFO	6	EFO	disposition	Transaldolase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101028	"" []	5409878	\N	\N	EFO	7	EFO	material property	Transaldolase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101028	"" []	6147822	\N	\N	EFO	8	EFO	experimental factor	Transaldolase deficiency
Orphanet:101029	\N	\N	"" []	Orphanet:101029	"" []	73176	\N	\N	EFO	0	EFO	Sub-cortical nodular heterotopia	Sub-cortical nodular heterotopia
Orphanet:2149	Orphanet:101029	\N	"" []	Orphanet:101029	"" []	214281	\N	\N	EFO	1	EFO	Nodular neuronal heterotopia	Sub-cortical nodular heterotopia
Orphanet:163209	Orphanet:2149	\N	"" []	Orphanet:101029	"" []	568221	\N	\N	EFO	2	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Sub-cortical nodular heterotopia
Orphanet:183763	Orphanet:2149	\N	"" []	Orphanet:101029	"" []	568222	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Sub-cortical nodular heterotopia
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:101029	"" []	1149736	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Sub-cortical nodular heterotopia
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:101029	"" []	1149737	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Sub-cortical nodular heterotopia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:101029	"" []	1149738	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Sub-cortical nodular heterotopia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:101029	"" []	2031944	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Sub-cortical nodular heterotopia
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:101029	"" []	2031945	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Sub-cortical nodular heterotopia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:101029	"" []	2031946	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sub-cortical nodular heterotopia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:101029	"" []	3182544	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Sub-cortical nodular heterotopia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:101029	"" []	3182545	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Sub-cortical nodular heterotopia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101029	"" []	5409880	\N	\N	EFO	7	EFO	genetic disorder	Sub-cortical nodular heterotopia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:101029	"" []	4390601	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Sub-cortical nodular heterotopia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:101029	"" []	4390602	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Sub-cortical nodular heterotopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101029	"" []	5876682	\N	\N	EFO	8	EFO	disease	Sub-cortical nodular heterotopia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101029	"" []	5409879	\N	\N	EFO	7	EFO	genetic disorder	Sub-cortical nodular heterotopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101029	"" []	6469889	\N	\N	EFO	9	EFO	disposition	Sub-cortical nodular heterotopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101029	"" []	6848232	\N	\N	EFO	10	EFO	material property	Sub-cortical nodular heterotopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101029	"" []	7068365	\N	\N	EFO	11	EFO	experimental factor	Sub-cortical nodular heterotopia
Orphanet:101030	\N	\N	"" []	Orphanet:101030	"" []	73177	\N	\N	EFO	0	EFO	Subependymal nodular heterotopia	Subependymal nodular heterotopia
Orphanet:2149	Orphanet:101030	\N	"" []	Orphanet:101030	"" []	214282	\N	\N	EFO	1	EFO	Nodular neuronal heterotopia	Subependymal nodular heterotopia
Orphanet:163209	Orphanet:2149	\N	"" []	Orphanet:101030	"" []	568223	\N	\N	EFO	2	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Subependymal nodular heterotopia
Orphanet:183763	Orphanet:2149	\N	"" []	Orphanet:101030	"" []	568224	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Subependymal nodular heterotopia
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:101030	"" []	1149739	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Subependymal nodular heterotopia
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:101030	"" []	1149740	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Subependymal nodular heterotopia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:101030	"" []	1149741	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Subependymal nodular heterotopia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:101030	"" []	2031947	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Subependymal nodular heterotopia
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:101030	"" []	2031948	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Subependymal nodular heterotopia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:101030	"" []	2031949	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Subependymal nodular heterotopia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:101030	"" []	3182547	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Subependymal nodular heterotopia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:101030	"" []	3182548	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Subependymal nodular heterotopia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101030	"" []	5409883	\N	\N	EFO	7	EFO	genetic disorder	Subependymal nodular heterotopia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:101030	"" []	4390605	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Subependymal nodular heterotopia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:101030	"" []	4390606	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Subependymal nodular heterotopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101030	"" []	5876683	\N	\N	EFO	8	EFO	disease	Subependymal nodular heterotopia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101030	"" []	5409882	\N	\N	EFO	7	EFO	genetic disorder	Subependymal nodular heterotopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101030	"" []	6469890	\N	\N	EFO	9	EFO	disposition	Subependymal nodular heterotopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101030	"" []	6848233	\N	\N	EFO	10	EFO	material property	Subependymal nodular heterotopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101030	"" []	7068366	\N	\N	EFO	11	EFO	experimental factor	Subependymal nodular heterotopia
Orphanet:101033	\N	\N	"" []	Orphanet:101033	"" []	73178	\N	\N	EFO	0	EFO	Peters anomaly - cataract	Peters anomaly - cataract
Orphanet:708	Orphanet:101033	\N	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	Orphanet:101033	"" []	214283	\N	\N	EFO	1	EFO	Peters anomaly	Peters anomaly - cataract
Orphanet:98558	Orphanet:708	\N	"" []	Orphanet:101033	"" []	568225	\N	\N	EFO	2	EFO	Rare eye disease due to a differentiation anomaly	Peters anomaly - cataract
Orphanet:98636	Orphanet:708	\N	"" []	Orphanet:101033	"" []	568226	\N	\N	EFO	2	EFO	Corneoiridogoniodysgenesis	Peters anomaly - cataract
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:101033	"" []	1149742	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Peters anomaly - cataract
Orphanet:98632	Orphanet:98636	\N	"" []	Orphanet:101033	"" []	1149743	\N	\N	EFO	3	EFO	Glaucoma associated with neural crest cell migration anomaly	Peters anomaly - cataract
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:101033	"" []	6147826	\N	\N	EFO	8	EFO	Rare genetic eye disease	Peters anomaly - cataract
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:101033	"" []	6147827	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Peters anomaly - cataract
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:101033	"" []	2031952	\N	\N	EFO	4	EFO	Secondary dysgenetic glaucoma	Peters anomaly - cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101033	"" []	6378796	\N	\N	EFO	9	EFO	genetic disorder	Peters anomaly - cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:101033	"" []	6378797	\N	\N	EFO	9	EFO	eye disease	Peters anomaly - cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101033	"" []	6378798	\N	\N	EFO	9	EFO	genetic disorder	Peters anomaly - cataract
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:101033	"" []	3182553	\N	\N	EFO	5	EFO	Hereditary glaucoma	Peters anomaly - cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101033	"" []	6778587	\N	\N	EFO	10	EFO	disease	Peters anomaly - cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101033	"" []	6778588	\N	\N	EFO	10	EFO	disease	Peters anomaly - cataract
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:101033	"" []	4390610	\N	\N	EFO	6	EFO	Non-syndromic developmental defect of the eye	Peters anomaly - cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101033	"" []	7029805	\N	\N	EFO	11	EFO	disposition	Peters anomaly - cataract
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:101033	"" []	5409886	\N	\N	EFO	7	EFO	Genetic developmental defect of the eye	Peters anomaly - cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101033	"" []	7181742	\N	\N	EFO	12	EFO	material property	Peters anomaly - cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101033	"" []	7279087	\N	\N	EFO	13	EFO	experimental factor	Peters anomaly - cataract
Orphanet:101039	\N	\N	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	73179	\N	\N	EFO	0	EFO	Female restricted epilepsy with intellectual disability	Female restricted epilepsy with intellectual disability
Orphanet:2076	Orphanet:101039	\N	"" []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	214284	\N	\N	EFO	1	EFO	X-linked intellectual disability - epilepsy	Female restricted epilepsy with intellectual disability
Orphanet:166472	Orphanet:2076	\N	"" []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	568227	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Female restricted epilepsy with intellectual disability
Orphanet:98464	Orphanet:2076	\N	"" []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	568228	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Female restricted epilepsy with intellectual disability
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	1149744	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Female restricted epilepsy with intellectual disability
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	1149745	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Female restricted epilepsy with intellectual disability
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	2031953	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Female restricted epilepsy with intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	2031954	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Female restricted epilepsy with intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	4390612	\N	\N	EFO	6	EFO	genetic disorder	Female restricted epilepsy with intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	3182555	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Female restricted epilepsy with intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	5181433	\N	\N	EFO	7	EFO	disease	Female restricted epilepsy with intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	5996824	\N	\N	EFO	8	EFO	disposition	Female restricted epilepsy with intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	6550450	\N	\N	EFO	9	EFO	material property	Female restricted epilepsy with intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101039	"Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance." []	6888995	\N	\N	EFO	10	EFO	experimental factor	Female restricted epilepsy with intellectual disability
Orphanet:101041	\N	\N	"" []	Orphanet:101041	"" []	73180	\N	\N	EFO	0	EFO	Familial hypofibrinogenemia	Familial hypofibrinogenemia
Orphanet:335	Orphanet:101041	\N	"" []	Orphanet:101041	"" []	214285	\N	\N	EFO	1	EFO	Congenital fibrinogen deficiency	Familial hypofibrinogenemia
Orphanet:68334	Orphanet:335	\N	"" []	Orphanet:101041	"" []	568229	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Familial hypofibrinogenemia
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:101041	"" []	1149746	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Familial hypofibrinogenemia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:101041	"" []	2031955	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Familial hypofibrinogenemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101041	"" []	3182556	\N	\N	EFO	5	EFO	genetic disorder	Familial hypofibrinogenemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:101041	"" []	3182557	\N	\N	EFO	5	EFO	hematological system disease	Familial hypofibrinogenemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101041	"" []	4390613	\N	\N	EFO	6	EFO	disease	Familial hypofibrinogenemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101041	"" []	4390614	\N	\N	EFO	6	EFO	disease	Familial hypofibrinogenemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101041	"" []	5409888	\N	\N	EFO	7	EFO	disposition	Familial hypofibrinogenemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101041	"" []	6147829	\N	\N	EFO	8	EFO	material property	Familial hypofibrinogenemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101041	"" []	6631968	\N	\N	EFO	9	EFO	experimental factor	Familial hypofibrinogenemia
Orphanet:101042	\N	\N	"" []	Orphanet:101042	"" []	73181	\N	\N	EFO	0	EFO	Taussig-Bing syndrome	Taussig-Bing syndrome
Orphanet:3426	Orphanet:101042	\N	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	Orphanet:101042	"" []	214286	\N	\N	EFO	1	EFO	Double outlet right ventricle	Taussig-Bing syndrome
Orphanet:271853	Orphanet:3426	\N	"" []	Orphanet:101042	"" []	568230	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Taussig-Bing syndrome
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:101042	"" []	1149747	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Taussig-Bing syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101042	"" []	2031956	\N	\N	EFO	4	EFO	genetic disorder	Taussig-Bing syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101042	"" []	3182558	\N	\N	EFO	5	EFO	disease	Taussig-Bing syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101042	"" []	4390615	\N	\N	EFO	6	EFO	disposition	Taussig-Bing syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101042	"" []	5409889	\N	\N	EFO	7	EFO	material property	Taussig-Bing syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101042	"" []	6147830	\N	\N	EFO	8	EFO	experimental factor	Taussig-Bing syndrome
Orphanet:101046	\N	\N	"" []	Orphanet:101046	"" []	73182	\N	\N	EFO	0	EFO	Autosomal dominant epilepsy with auditory features	Autosomal dominant epilepsy with auditory features
Orphanet:309	Orphanet:101046	\N	"" []	Orphanet:101046	"" []	214287	\N	\N	EFO	1	EFO	Familial partial epilepsy	Autosomal dominant epilepsy with auditory features
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:101046	"" []	568231	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Autosomal dominant epilepsy with auditory features
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:101046	"" []	568232	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Autosomal dominant epilepsy with auditory features
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:101046	"" []	568233	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Autosomal dominant epilepsy with auditory features
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:101046	"" []	568234	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Autosomal dominant epilepsy with auditory features
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:101046	"" []	1149748	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Autosomal dominant epilepsy with auditory features
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:101046	"" []	1149749	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Autosomal dominant epilepsy with auditory features
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:101046	"" []	1149750	\N	\N	EFO	3	EFO	Epilepsy syndrome	Autosomal dominant epilepsy with auditory features
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:101046	"" []	1149751	\N	\N	EFO	3	EFO	Epilepsy syndrome	Autosomal dominant epilepsy with auditory features
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:101046	"" []	3182560	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant epilepsy with auditory features
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:101046	"" []	2031958	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Autosomal dominant epilepsy with auditory features
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:101046	"" []	2031959	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Autosomal dominant epilepsy with auditory features
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101046	"" []	4133183	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant epilepsy with auditory features
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101046	"" []	5181434	\N	\N	EFO	7	EFO	disease	Autosomal dominant epilepsy with auditory features
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101046	"" []	5996825	\N	\N	EFO	8	EFO	disposition	Autosomal dominant epilepsy with auditory features
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101046	"" []	6550451	\N	\N	EFO	9	EFO	material property	Autosomal dominant epilepsy with auditory features
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101046	"" []	6888996	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant epilepsy with auditory features
Orphanet:101049	\N	\N	"" []	Orphanet:101049	"" []	73183	\N	\N	EFO	0	EFO	Familial hypocalciuric hypercalcemia type 2	Familial hypocalciuric hypercalcemia type 2
Orphanet:405	Orphanet:101049	\N	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	Orphanet:101049	"" []	214288	\N	\N	EFO	1	EFO	Familial hypocalciuric hypercalcemia	Familial hypocalciuric hypercalcemia type 2
EFO:0005769	Orphanet:405	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:101049	"" []	568235	\N	\N	EFO	2	EFO	calcium metabolic disease	Familial hypocalciuric hypercalcemia type 2
Orphanet:183634	Orphanet:405	\N	"" []	Orphanet:101049	"" []	568236	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Familial hypocalciuric hypercalcemia type 2
Orphanet:93447	Orphanet:405	\N	"" []	Orphanet:101049	"" []	568237	\N	\N	EFO	2	EFO	Primary bone dysplasia with defective bone mineralization	Familial hypocalciuric hypercalcemia type 2
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:101049	"" []	1149752	\N	\N	EFO	3	EFO	metabolic disease	Familial hypocalciuric hypercalcemia type 2
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:101049	"" []	1149753	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial hypocalciuric hypercalcemia type 2
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:101049	"" []	1149754	\N	\N	EFO	3	EFO	Primary bone dysplasia	Familial hypocalciuric hypercalcemia type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101049	"" []	2031960	\N	\N	EFO	4	EFO	disease	Familial hypocalciuric hypercalcemia type 2
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101049	"" []	2031961	\N	\N	EFO	4	EFO	genetic disorder	Familial hypocalciuric hypercalcemia type 2
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:101049	"" []	2031962	\N	\N	EFO	4	EFO	endocrine system disease	Familial hypocalciuric hypercalcemia type 2
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:101049	"" []	2031963	\N	\N	EFO	4	EFO	Rare genetic bone disease	Familial hypocalciuric hypercalcemia type 2
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:101049	"" []	2031964	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Familial hypocalciuric hypercalcemia type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101049	"" []	5876685	\N	\N	EFO	8	EFO	disposition	Familial hypocalciuric hypercalcemia type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101049	"" []	5409893	\N	\N	EFO	7	EFO	disease	Familial hypocalciuric hypercalcemia type 2
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101049	"" []	3182563	\N	\N	EFO	5	EFO	disease	Familial hypocalciuric hypercalcemia type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101049	"" []	3182564	\N	\N	EFO	5	EFO	genetic disorder	Familial hypocalciuric hypercalcemia type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:101049	"" []	3182565	\N	\N	EFO	5	EFO	bone disease	Familial hypocalciuric hypercalcemia type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:101049	"" []	3182566	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Familial hypocalciuric hypercalcemia type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101049	"" []	6409782	\N	\N	EFO	9	EFO	material property	Familial hypocalciuric hypercalcemia type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:101049	"" []	4390620	\N	\N	EFO	6	EFO	skeletal system disease	Familial hypocalciuric hypercalcemia type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101049	"" []	4390621	\N	\N	EFO	6	EFO	genetic disorder	Familial hypocalciuric hypercalcemia type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101049	"" []	6807640	\N	\N	EFO	10	EFO	experimental factor	Familial hypocalciuric hypercalcemia type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101049	"" []	5409892	\N	\N	EFO	7	EFO	disease	Familial hypocalciuric hypercalcemia type 2
Orphanet:101050	\N	\N	"" []	Orphanet:101050	"" []	73184	\N	\N	EFO	0	EFO	Familial hypocalciuric hypercalcemia type 3	Familial hypocalciuric hypercalcemia type 3
Orphanet:405	Orphanet:101050	\N	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	Orphanet:101050	"" []	214289	\N	\N	EFO	1	EFO	Familial hypocalciuric hypercalcemia	Familial hypocalciuric hypercalcemia type 3
EFO:0005769	Orphanet:405	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:101050	"" []	568238	\N	\N	EFO	2	EFO	calcium metabolic disease	Familial hypocalciuric hypercalcemia type 3
Orphanet:183634	Orphanet:405	\N	"" []	Orphanet:101050	"" []	568239	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Familial hypocalciuric hypercalcemia type 3
Orphanet:93447	Orphanet:405	\N	"" []	Orphanet:101050	"" []	568240	\N	\N	EFO	2	EFO	Primary bone dysplasia with defective bone mineralization	Familial hypocalciuric hypercalcemia type 3
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:101050	"" []	1149755	\N	\N	EFO	3	EFO	metabolic disease	Familial hypocalciuric hypercalcemia type 3
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:101050	"" []	1149756	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial hypocalciuric hypercalcemia type 3
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:101050	"" []	1149757	\N	\N	EFO	3	EFO	Primary bone dysplasia	Familial hypocalciuric hypercalcemia type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101050	"" []	2031965	\N	\N	EFO	4	EFO	disease	Familial hypocalciuric hypercalcemia type 3
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101050	"" []	2031966	\N	\N	EFO	4	EFO	genetic disorder	Familial hypocalciuric hypercalcemia type 3
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:101050	"" []	2031967	\N	\N	EFO	4	EFO	endocrine system disease	Familial hypocalciuric hypercalcemia type 3
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:101050	"" []	2031968	\N	\N	EFO	4	EFO	Rare genetic bone disease	Familial hypocalciuric hypercalcemia type 3
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:101050	"" []	2031969	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Familial hypocalciuric hypercalcemia type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101050	"" []	5876687	\N	\N	EFO	8	EFO	disposition	Familial hypocalciuric hypercalcemia type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101050	"" []	5409896	\N	\N	EFO	7	EFO	disease	Familial hypocalciuric hypercalcemia type 3
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101050	"" []	3182569	\N	\N	EFO	5	EFO	disease	Familial hypocalciuric hypercalcemia type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101050	"" []	3182570	\N	\N	EFO	5	EFO	genetic disorder	Familial hypocalciuric hypercalcemia type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:101050	"" []	3182571	\N	\N	EFO	5	EFO	bone disease	Familial hypocalciuric hypercalcemia type 3
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:101050	"" []	3182572	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Familial hypocalciuric hypercalcemia type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101050	"" []	6409783	\N	\N	EFO	9	EFO	material property	Familial hypocalciuric hypercalcemia type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:101050	"" []	4390625	\N	\N	EFO	6	EFO	skeletal system disease	Familial hypocalciuric hypercalcemia type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101050	"" []	4390626	\N	\N	EFO	6	EFO	genetic disorder	Familial hypocalciuric hypercalcemia type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101050	"" []	6807641	\N	\N	EFO	10	EFO	experimental factor	Familial hypocalciuric hypercalcemia type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101050	"" []	5409895	\N	\N	EFO	7	EFO	disease	Familial hypocalciuric hypercalcemia type 3
Orphanet:101052	\N	\N	"" []	Orphanet:101052	"" []	73185	\N	\N	EFO	0	EFO	Microlissencephaly type B	Microlissencephaly type B
Orphanet:1083	Orphanet:101052	\N	"" []	Orphanet:101052	"" []	214290	\N	\N	EFO	1	EFO	Microlissencephaly	Microlissencephaly type B
Orphanet:48471	Orphanet:1083	\N	"" []	Orphanet:101052	"" []	568241	\N	\N	EFO	2	EFO	Lissencephaly	Microlissencephaly type B
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:101052	"" []	1149758	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Microlissencephaly type B
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:101052	"" []	1149759	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Microlissencephaly type B
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:101052	"" []	1149760	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microlissencephaly type B
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:101052	"" []	2031970	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Microlissencephaly type B
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:101052	"" []	2031971	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Microlissencephaly type B
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:101052	"" []	2031972	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Microlissencephaly type B
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:101052	"" []	3182573	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Microlissencephaly type B
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:101052	"" []	3182574	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Microlissencephaly type B
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:101052	"" []	3182575	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microlissencephaly type B
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:101052	"" []	3182576	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Microlissencephaly type B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101052	"" []	4390627	\N	\N	EFO	6	EFO	genetic disorder	Microlissencephaly type B
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101052	"" []	4390628	\N	\N	EFO	6	EFO	genetic disorder	Microlissencephaly type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101052	"" []	5409897	\N	\N	EFO	7	EFO	disease	Microlissencephaly type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101052	"" []	6147832	\N	\N	EFO	8	EFO	disposition	Microlissencephaly type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101052	"" []	6631970	\N	\N	EFO	9	EFO	material property	Microlissencephaly type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101052	"" []	6925365	\N	\N	EFO	10	EFO	experimental factor	Microlissencephaly type B
Orphanet:101063	\N	\N	"" []	Orphanet:101063	"" []	73186	\N	\N	EFO	0	EFO	Situs inversus totalis	Situs inversus totalis
Orphanet:271853	Orphanet:101063	\N	"" []	Orphanet:101063	"" []	214291	\N	\N	EFO	1	EFO	Genetic cardiac anomaly	Situs inversus totalis
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:101063	"" []	568242	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Situs inversus totalis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101063	"" []	1149761	\N	\N	EFO	3	EFO	genetic disorder	Situs inversus totalis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101063	"" []	2031973	\N	\N	EFO	4	EFO	disease	Situs inversus totalis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101063	"" []	3182577	\N	\N	EFO	5	EFO	disposition	Situs inversus totalis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101063	"" []	4390629	\N	\N	EFO	6	EFO	material property	Situs inversus totalis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101063	"" []	5409898	\N	\N	EFO	7	EFO	experimental factor	Situs inversus totalis
Orphanet:101068	\N	\N	"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." []	Orphanet:101068	"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." []	73187	\N	\N	EFO	0	EFO	Congenital stromal corneal dystrophy	Congenital stromal corneal dystrophy
Orphanet:98626	Orphanet:101068	\N	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:101068	"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." []	214292	\N	\N	EFO	1	EFO	Stromal corneal dystrophy	Congenital stromal corneal dystrophy
Orphanet:34533	Orphanet:98626	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:101068	"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." []	568243	\N	\N	EFO	2	EFO	Corneal dystrophy	Congenital stromal corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:101068	"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." []	1149762	\N	\N	EFO	3	EFO	Rare genetic eye disease	Congenital stromal corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101068	"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." []	2031974	\N	\N	EFO	4	EFO	genetic disorder	Congenital stromal corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:101068	"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." []	2031975	\N	\N	EFO	4	EFO	eye disease	Congenital stromal corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101068	"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." []	3182578	\N	\N	EFO	5	EFO	disease	Congenital stromal corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101068	"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." []	3182579	\N	\N	EFO	5	EFO	disease	Congenital stromal corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101068	"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." []	4390630	\N	\N	EFO	6	EFO	disposition	Congenital stromal corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101068	"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." []	5409899	\N	\N	EFO	7	EFO	material property	Congenital stromal corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101068	"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." []	6147833	\N	\N	EFO	8	EFO	experimental factor	Congenital stromal corneal dystrophy
Orphanet:101070	\N	\N	"" []	Orphanet:101070	"" []	73188	\N	\N	EFO	0	EFO	Bilateral frontoparietal polymicrogyria	Bilateral frontoparietal polymicrogyria
Orphanet:268940	Orphanet:101070	\N	"" []	Orphanet:101070	"" []	214293	\N	\N	EFO	1	EFO	Bilateral polymicrogyria	Bilateral frontoparietal polymicrogyria
Orphanet:35981	Orphanet:268940	\N	"" []	Orphanet:101070	"" []	568244	\N	\N	EFO	2	EFO	Polymicrogyria	Bilateral frontoparietal polymicrogyria
Orphanet:163209	Orphanet:35981	\N	"" []	Orphanet:101070	"" []	1149763	\N	\N	EFO	3	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Bilateral frontoparietal polymicrogyria
Orphanet:183763	Orphanet:35981	\N	"" []	Orphanet:101070	"" []	1149764	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Bilateral frontoparietal polymicrogyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:101070	"" []	2031976	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Bilateral frontoparietal polymicrogyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:101070	"" []	2031977	\N	\N	EFO	4	EFO	Genetic cerebral malformation	Bilateral frontoparietal polymicrogyria
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:101070	"" []	2031978	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Bilateral frontoparietal polymicrogyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:101070	"" []	3182580	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Bilateral frontoparietal polymicrogyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:101070	"" []	3182581	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Bilateral frontoparietal polymicrogyria
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:101070	"" []	3182582	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Bilateral frontoparietal polymicrogyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:101070	"" []	4390631	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Bilateral frontoparietal polymicrogyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:101070	"" []	4390632	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Bilateral frontoparietal polymicrogyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101070	"" []	6147835	\N	\N	EFO	8	EFO	genetic disorder	Bilateral frontoparietal polymicrogyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:101070	"" []	5409901	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Bilateral frontoparietal polymicrogyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:101070	"" []	5409902	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Bilateral frontoparietal polymicrogyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101070	"" []	6469893	\N	\N	EFO	9	EFO	disease	Bilateral frontoparietal polymicrogyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101070	"" []	6147834	\N	\N	EFO	8	EFO	genetic disorder	Bilateral frontoparietal polymicrogyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101070	"" []	6848234	\N	\N	EFO	10	EFO	disposition	Bilateral frontoparietal polymicrogyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101070	"" []	7068367	\N	\N	EFO	11	EFO	material property	Bilateral frontoparietal polymicrogyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101070	"" []	7197151	\N	\N	EFO	12	EFO	experimental factor	Bilateral frontoparietal polymicrogyria
Orphanet:101071	\N	\N	"" []	Orphanet:101071	"" []	73189	\N	\N	EFO	0	EFO	Unilateral hemispheric polymicrogyria	Unilateral hemispheric polymicrogyria
Orphanet:268943	Orphanet:101071	\N	"" []	Orphanet:101071	"" []	214294	\N	\N	EFO	1	EFO	Unilateral polymicrogyria	Unilateral hemispheric polymicrogyria
Orphanet:35981	Orphanet:268943	\N	"" []	Orphanet:101071	"" []	568245	\N	\N	EFO	2	EFO	Polymicrogyria	Unilateral hemispheric polymicrogyria
Orphanet:163209	Orphanet:35981	\N	"" []	Orphanet:101071	"" []	1149765	\N	\N	EFO	3	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Unilateral hemispheric polymicrogyria
Orphanet:183763	Orphanet:35981	\N	"" []	Orphanet:101071	"" []	1149766	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Unilateral hemispheric polymicrogyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:101071	"" []	2031979	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Unilateral hemispheric polymicrogyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:101071	"" []	2031980	\N	\N	EFO	4	EFO	Genetic cerebral malformation	Unilateral hemispheric polymicrogyria
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:101071	"" []	2031981	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Unilateral hemispheric polymicrogyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:101071	"" []	3182583	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Unilateral hemispheric polymicrogyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:101071	"" []	3182584	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Unilateral hemispheric polymicrogyria
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:101071	"" []	3182585	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Unilateral hemispheric polymicrogyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:101071	"" []	4390634	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Unilateral hemispheric polymicrogyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:101071	"" []	4390635	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Unilateral hemispheric polymicrogyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101071	"" []	6147838	\N	\N	EFO	8	EFO	genetic disorder	Unilateral hemispheric polymicrogyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:101071	"" []	5409905	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Unilateral hemispheric polymicrogyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:101071	"" []	5409906	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Unilateral hemispheric polymicrogyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101071	"" []	6469894	\N	\N	EFO	9	EFO	disease	Unilateral hemispheric polymicrogyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101071	"" []	6147837	\N	\N	EFO	8	EFO	genetic disorder	Unilateral hemispheric polymicrogyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101071	"" []	6848235	\N	\N	EFO	10	EFO	disposition	Unilateral hemispheric polymicrogyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101071	"" []	7068368	\N	\N	EFO	11	EFO	material property	Unilateral hemispheric polymicrogyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101071	"" []	7197152	\N	\N	EFO	12	EFO	experimental factor	Unilateral hemispheric polymicrogyria
Orphanet:101075	\N	\N	"" []	Orphanet:101075	"" []	73190	\N	\N	EFO	0	EFO	X-linked Charcot-Marie-Tooth disease type 1	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:140450	Orphanet:101075	\N	"" []	Orphanet:101075	"" []	214295	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:64747	Orphanet:101075	\N	"" []	Orphanet:101075	"" []	214296	\N	\N	EFO	1	EFO	X-linked Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease type 1
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:101075	"" []	568246	\N	\N	EFO	2	EFO	motor neuron disease	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:101075	"" []	568247	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:166	Orphanet:64747	\N	"" []	Orphanet:101075	"" []	568248	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:90642	Orphanet:64747	\N	"" []	Orphanet:101075	"" []	568249	\N	\N	EFO	2	EFO	Syndromic genetic deafness	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:98464	Orphanet:64747	\N	"" []	Orphanet:101075	"" []	568250	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked Charcot-Marie-Tooth disease type 1
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101075	"" []	1149767	\N	\N	EFO	3	EFO	neurodegenerative disease	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:101075	"" []	2031984	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:101075	"" []	1149769	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:101075	"" []	1149770	\N	\N	EFO	3	EFO	Rare genetic deafness	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:101075	"" []	1149771	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked Charcot-Marie-Tooth disease type 1
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101075	"" []	2031982	\N	\N	EFO	4	EFO	nervous system disease	X-linked Charcot-Marie-Tooth disease type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101075	"" []	4390639	\N	\N	EFO	6	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 1
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101075	"" []	2031985	\N	\N	EFO	4	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 1
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:101075	"" []	2031986	\N	\N	EFO	4	EFO	auditory system disease	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:101075	"" []	2031987	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked Charcot-Marie-Tooth disease type 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101075	"" []	5409909	\N	\N	EFO	7	EFO	disease	X-linked Charcot-Marie-Tooth disease type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101075	"" []	5059538	\N	\N	EFO	7	EFO	disease	X-linked Charcot-Marie-Tooth disease type 1
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:101075	"" []	3182588	\N	\N	EFO	5	EFO	sensory system disease	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:101075	"" []	3182589	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101075	"" []	5876688	\N	\N	EFO	8	EFO	disposition	X-linked Charcot-Marie-Tooth disease type 1
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101075	"" []	4390638	\N	\N	EFO	6	EFO	nervous system disease	X-linked Charcot-Marie-Tooth disease type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101075	"" []	6469895	\N	\N	EFO	9	EFO	material property	X-linked Charcot-Marie-Tooth disease type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101075	"" []	6848236	\N	\N	EFO	10	EFO	experimental factor	X-linked Charcot-Marie-Tooth disease type 1
Orphanet:101076	\N	\N	"" []	Orphanet:101076	"" []	73191	\N	\N	EFO	0	EFO	X-linked Charcot-Marie-Tooth disease type 2	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:140462	Orphanet:101076	\N	"" []	Orphanet:101076	"" []	214297	\N	\N	EFO	1	EFO	X-linked recessive hereditary axonal motor and sensory neuropathy	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:64747	Orphanet:101076	\N	"" []	Orphanet:101076	"" []	214298	\N	\N	EFO	1	EFO	X-linked Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:140450	Orphanet:140462	\N	"" []	Orphanet:101076	"" []	568251	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:166	Orphanet:64747	\N	"" []	Orphanet:101076	"" []	568252	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:90642	Orphanet:64747	\N	"" []	Orphanet:101076	"" []	568253	\N	\N	EFO	2	EFO	Syndromic genetic deafness	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:98464	Orphanet:64747	\N	"" []	Orphanet:101076	"" []	568254	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked Charcot-Marie-Tooth disease type 2
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:101076	"" []	1149772	\N	\N	EFO	3	EFO	motor neuron disease	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:101076	"" []	1149773	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:101076	"" []	1149774	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:101076	"" []	1149775	\N	\N	EFO	3	EFO	Rare genetic deafness	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:101076	"" []	1149776	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked Charcot-Marie-Tooth disease type 2
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101076	"" []	2031988	\N	\N	EFO	4	EFO	neurodegenerative disease	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:101076	"" []	2031989	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease type 2
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101076	"" []	2031990	\N	\N	EFO	4	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 2
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:101076	"" []	2031991	\N	\N	EFO	4	EFO	auditory system disease	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:101076	"" []	2031992	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked Charcot-Marie-Tooth disease type 2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101076	"" []	3182590	\N	\N	EFO	5	EFO	nervous system disease	X-linked Charcot-Marie-Tooth disease type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101076	"" []	4390644	\N	\N	EFO	6	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101076	"" []	5181440	\N	\N	EFO	7	EFO	disease	X-linked Charcot-Marie-Tooth disease type 2
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:101076	"" []	3182593	\N	\N	EFO	5	EFO	sensory system disease	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:101076	"" []	3182594	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101076	"" []	5409911	\N	\N	EFO	7	EFO	disease	X-linked Charcot-Marie-Tooth disease type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101076	"" []	5876689	\N	\N	EFO	8	EFO	disposition	X-linked Charcot-Marie-Tooth disease type 2
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101076	"" []	4390643	\N	\N	EFO	6	EFO	nervous system disease	X-linked Charcot-Marie-Tooth disease type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101076	"" []	6469896	\N	\N	EFO	9	EFO	material property	X-linked Charcot-Marie-Tooth disease type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101076	"" []	6848237	\N	\N	EFO	10	EFO	experimental factor	X-linked Charcot-Marie-Tooth disease type 2
Orphanet:101077	\N	\N	"" []	Orphanet:101077	"" []	73192	\N	\N	EFO	0	EFO	X-linked Charcot-Marie-Tooth disease type 3	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:140462	Orphanet:101077	\N	"" []	Orphanet:101077	"" []	214299	\N	\N	EFO	1	EFO	X-linked recessive hereditary axonal motor and sensory neuropathy	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:64747	Orphanet:101077	\N	"" []	Orphanet:101077	"" []	214300	\N	\N	EFO	1	EFO	X-linked Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:140450	Orphanet:140462	\N	"" []	Orphanet:101077	"" []	568255	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:166	Orphanet:64747	\N	"" []	Orphanet:101077	"" []	568256	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:90642	Orphanet:64747	\N	"" []	Orphanet:101077	"" []	568257	\N	\N	EFO	2	EFO	Syndromic genetic deafness	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:98464	Orphanet:64747	\N	"" []	Orphanet:101077	"" []	568258	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked Charcot-Marie-Tooth disease type 3
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:101077	"" []	1149777	\N	\N	EFO	3	EFO	motor neuron disease	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:101077	"" []	1149778	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:101077	"" []	1149779	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:101077	"" []	1149780	\N	\N	EFO	3	EFO	Rare genetic deafness	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:101077	"" []	1149781	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked Charcot-Marie-Tooth disease type 3
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101077	"" []	2031993	\N	\N	EFO	4	EFO	neurodegenerative disease	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:101077	"" []	2031994	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease type 3
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101077	"" []	2031995	\N	\N	EFO	4	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 3
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:101077	"" []	2031996	\N	\N	EFO	4	EFO	auditory system disease	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:101077	"" []	2031997	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked Charcot-Marie-Tooth disease type 3
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101077	"" []	3182595	\N	\N	EFO	5	EFO	nervous system disease	X-linked Charcot-Marie-Tooth disease type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101077	"" []	4390649	\N	\N	EFO	6	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101077	"" []	5181442	\N	\N	EFO	7	EFO	disease	X-linked Charcot-Marie-Tooth disease type 3
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:101077	"" []	3182598	\N	\N	EFO	5	EFO	sensory system disease	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:101077	"" []	3182599	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease type 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101077	"" []	5409913	\N	\N	EFO	7	EFO	disease	X-linked Charcot-Marie-Tooth disease type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101077	"" []	5876690	\N	\N	EFO	8	EFO	disposition	X-linked Charcot-Marie-Tooth disease type 3
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101077	"" []	4390648	\N	\N	EFO	6	EFO	nervous system disease	X-linked Charcot-Marie-Tooth disease type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101077	"" []	6469897	\N	\N	EFO	9	EFO	material property	X-linked Charcot-Marie-Tooth disease type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101077	"" []	6848238	\N	\N	EFO	10	EFO	experimental factor	X-linked Charcot-Marie-Tooth disease type 3
Orphanet:101078	\N	\N	"" []	Orphanet:101078	"" []	73193	\N	\N	EFO	0	EFO	X-linked Charcot-Marie-Tooth disease type 4	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:140462	Orphanet:101078	\N	"" []	Orphanet:101078	"" []	214301	\N	\N	EFO	1	EFO	X-linked recessive hereditary axonal motor and sensory neuropathy	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:64747	Orphanet:101078	\N	"" []	Orphanet:101078	"" []	214302	\N	\N	EFO	1	EFO	X-linked Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:140450	Orphanet:140462	\N	"" []	Orphanet:101078	"" []	568259	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:166	Orphanet:64747	\N	"" []	Orphanet:101078	"" []	568260	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:90642	Orphanet:64747	\N	"" []	Orphanet:101078	"" []	568261	\N	\N	EFO	2	EFO	Syndromic genetic deafness	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:98464	Orphanet:64747	\N	"" []	Orphanet:101078	"" []	568262	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked Charcot-Marie-Tooth disease type 4
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:101078	"" []	1149782	\N	\N	EFO	3	EFO	motor neuron disease	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:101078	"" []	1149783	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:101078	"" []	1149784	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:101078	"" []	1149785	\N	\N	EFO	3	EFO	Rare genetic deafness	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:101078	"" []	1149786	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked Charcot-Marie-Tooth disease type 4
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101078	"" []	2031998	\N	\N	EFO	4	EFO	neurodegenerative disease	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:101078	"" []	2031999	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease type 4
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101078	"" []	2032000	\N	\N	EFO	4	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 4
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:101078	"" []	2032001	\N	\N	EFO	4	EFO	auditory system disease	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:101078	"" []	2032002	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked Charcot-Marie-Tooth disease type 4
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101078	"" []	3182600	\N	\N	EFO	5	EFO	nervous system disease	X-linked Charcot-Marie-Tooth disease type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101078	"" []	4390654	\N	\N	EFO	6	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101078	"" []	5181444	\N	\N	EFO	7	EFO	disease	X-linked Charcot-Marie-Tooth disease type 4
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:101078	"" []	3182603	\N	\N	EFO	5	EFO	sensory system disease	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:101078	"" []	3182604	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease type 4
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101078	"" []	5409915	\N	\N	EFO	7	EFO	disease	X-linked Charcot-Marie-Tooth disease type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101078	"" []	5876691	\N	\N	EFO	8	EFO	disposition	X-linked Charcot-Marie-Tooth disease type 4
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101078	"" []	4390653	\N	\N	EFO	6	EFO	nervous system disease	X-linked Charcot-Marie-Tooth disease type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101078	"" []	6469898	\N	\N	EFO	9	EFO	material property	X-linked Charcot-Marie-Tooth disease type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101078	"" []	6848239	\N	\N	EFO	10	EFO	experimental factor	X-linked Charcot-Marie-Tooth disease type 4
Orphanet:101081	\N	\N	"" []	Orphanet:101081	"" []	73194	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 1A	Charcot-Marie-Tooth disease type 1A
Orphanet:262803	Orphanet:101081	\N	"" []	Orphanet:101081	"" []	214303	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 17	Charcot-Marie-Tooth disease type 1A
Orphanet:65753	Orphanet:101081	\N	"" []	Orphanet:101081	"" []	214304	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth disease type 1A
Orphanet:262677	Orphanet:262803	\N	"" []	Orphanet:101081	"" []	568263	\N	\N	EFO	2	EFO	Partial duplication of chromosome 17	Charcot-Marie-Tooth disease type 1A
Orphanet:140453	Orphanet:65753	\N	"" []	Orphanet:101081	"" []	568264	\N	\N	EFO	2	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1A
Orphanet:166	Orphanet:65753	\N	"" []	Orphanet:101081	"" []	568265	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 1A
Orphanet:98132	Orphanet:262677	\N	"" []	Orphanet:101081	"" []	1149787	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Charcot-Marie-Tooth disease type 1A
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:101081	"" []	1149788	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1A
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:101081	"" []	1149789	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1A
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:101081	"" []	2032003	\N	\N	EFO	4	EFO	Autosomal trisomy	Charcot-Marie-Tooth disease type 1A
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:101081	"" []	2032004	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 1A
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:101081	"" []	2032005	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1A
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:101081	"" []	3182607	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 1A
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:101081	"" []	3182605	\N	\N	EFO	5	EFO	Autosomal anomaly	Charcot-Marie-Tooth disease type 1A
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101081	"" []	3182606	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 1A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101081	"" []	4133185	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 1A
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:101081	"" []	4390655	\N	\N	EFO	6	EFO	Chromosomal anomaly	Charcot-Marie-Tooth disease type 1A
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101081	"" []	4390656	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 1A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101081	"" []	6147844	\N	\N	EFO	8	EFO	disease	Charcot-Marie-Tooth disease type 1A
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101081	"" []	5409916	\N	\N	EFO	7	EFO	genetic disorder	Charcot-Marie-Tooth disease type 1A
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101081	"" []	5409917	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 1A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101081	"" []	6469899	\N	\N	EFO	9	EFO	disposition	Charcot-Marie-Tooth disease type 1A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101081	"" []	6848240	\N	\N	EFO	10	EFO	material property	Charcot-Marie-Tooth disease type 1A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101081	"" []	7068369	\N	\N	EFO	11	EFO	experimental factor	Charcot-Marie-Tooth disease type 1A
Orphanet:101082	\N	\N	"" []	Orphanet:101082	"" []	73195	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 1B	Charcot-Marie-Tooth disease type 1B
Orphanet:65753	Orphanet:101082	\N	"" []	Orphanet:101082	"" []	214305	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth disease type 1B
Orphanet:140453	Orphanet:65753	\N	"" []	Orphanet:101082	"" []	568266	\N	\N	EFO	2	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1B
Orphanet:166	Orphanet:65753	\N	"" []	Orphanet:101082	"" []	568267	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 1B
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:101082	"" []	1149790	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1B
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:101082	"" []	1149791	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1B
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:101082	"" []	2032007	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 1B
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:101082	"" []	2032008	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1B
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:101082	"" []	3182610	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 1B
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101082	"" []	3182609	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 1B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101082	"" []	4133186	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 1B
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101082	"" []	4390658	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 1B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101082	"" []	5181447	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 1B
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101082	"" []	5409919	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 1B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101082	"" []	5996835	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 1B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101082	"" []	6550459	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 1B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101082	"" []	6889000	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 1B
Orphanet:101083	\N	\N	"" []	Orphanet:101083	"" []	73196	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 1C	Charcot-Marie-Tooth disease type 1C
Orphanet:65753	Orphanet:101083	\N	"" []	Orphanet:101083	"" []	214306	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth disease type 1C
Orphanet:140453	Orphanet:65753	\N	"" []	Orphanet:101083	"" []	568268	\N	\N	EFO	2	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1C
Orphanet:166	Orphanet:65753	\N	"" []	Orphanet:101083	"" []	568269	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 1C
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:101083	"" []	1149792	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1C
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:101083	"" []	1149793	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1C
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:101083	"" []	2032010	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 1C
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:101083	"" []	2032011	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1C
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:101083	"" []	3182613	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 1C
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101083	"" []	3182612	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 1C
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101083	"" []	4133187	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 1C
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101083	"" []	4390660	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 1C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101083	"" []	5181448	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 1C
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101083	"" []	5409921	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 1C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101083	"" []	5996836	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 1C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101083	"" []	6550460	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 1C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101083	"" []	6889001	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 1C
Orphanet:101084	\N	\N	"" []	Orphanet:101084	"" []	73197	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 1D	Charcot-Marie-Tooth disease type 1D
Orphanet:65753	Orphanet:101084	\N	"" []	Orphanet:101084	"" []	214307	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth disease type 1D
Orphanet:140453	Orphanet:65753	\N	"" []	Orphanet:101084	"" []	568270	\N	\N	EFO	2	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1D
Orphanet:166	Orphanet:65753	\N	"" []	Orphanet:101084	"" []	568271	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 1D
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:101084	"" []	1149794	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1D
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:101084	"" []	1149795	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1D
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:101084	"" []	2032013	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 1D
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:101084	"" []	2032014	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1D
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:101084	"" []	3182616	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 1D
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101084	"" []	3182615	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 1D
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101084	"" []	4133188	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 1D
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101084	"" []	4390662	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 1D
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101084	"" []	5181449	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 1D
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101084	"" []	5409923	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 1D
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101084	"" []	5996837	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 1D
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101084	"" []	6550461	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 1D
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101084	"" []	6889002	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 1D
Orphanet:101085	\N	\N	"" []	Orphanet:101085	"" []	73198	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 1F	Charcot-Marie-Tooth disease type 1F
Orphanet:65753	Orphanet:101085	\N	"" []	Orphanet:101085	"" []	214308	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth disease type 1F
Orphanet:140453	Orphanet:65753	\N	"" []	Orphanet:101085	"" []	568272	\N	\N	EFO	2	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1F
Orphanet:166	Orphanet:65753	\N	"" []	Orphanet:101085	"" []	568273	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 1F
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:101085	"" []	1149796	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1F
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:101085	"" []	1149797	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1F
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:101085	"" []	2032016	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 1F
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:101085	"" []	2032017	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1F
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:101085	"" []	3182619	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 1F
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101085	"" []	3182618	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 1F
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101085	"" []	4133189	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 1F
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101085	"" []	4390664	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 1F
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101085	"" []	5181450	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 1F
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101085	"" []	5409925	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 1F
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101085	"" []	5996838	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 1F
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101085	"" []	6550462	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 1F
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101085	"" []	6889003	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 1F
Orphanet:101088	\N	\N	"" []	Orphanet:101088	"" []	73199	\N	\N	EFO	0	EFO	X-linked hyper-IgM syndrome	X-linked hyper-IgM syndrome
Orphanet:183663	Orphanet:101088	\N	"" []	Orphanet:101088	"" []	214309	\N	\N	EFO	1	EFO	Hyper-IgM syndrome with susceptibility to opportunistic infections	X-linked hyper-IgM syndrome
Orphanet:101972	Orphanet:183663	\N	"" []	Orphanet:101088	"" []	568274	\N	\N	EFO	2	EFO	Combined T and B cell immunodeficiency	X-linked hyper-IgM syndrome
Orphanet:331240	Orphanet:183663	\N	"" []	Orphanet:101088	"" []	568275	\N	\N	EFO	2	EFO	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	X-linked hyper-IgM syndrome
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:101088	"" []	1149798	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	X-linked hyper-IgM syndrome
Orphanet:101977	Orphanet:331240	\N	"" []	Orphanet:101088	"" []	1149799	\N	\N	EFO	3	EFO	Immunodeficiency predominantly affecting antibody production	X-linked hyper-IgM syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:101088	"" []	3182622	\N	\N	EFO	5	EFO	Primary immunodeficiency	X-linked hyper-IgM syndrome
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:101088	"" []	2032020	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	X-linked hyper-IgM syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:101088	"" []	4133190	\N	\N	EFO	6	EFO	Rare genetic immune disease	X-linked hyper-IgM syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101088	"" []	5181451	\N	\N	EFO	7	EFO	genetic disorder	X-linked hyper-IgM syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:101088	"" []	5181452	\N	\N	EFO	7	EFO	immune system disease	X-linked hyper-IgM syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101088	"" []	5996839	\N	\N	EFO	8	EFO	disease	X-linked hyper-IgM syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101088	"" []	5996840	\N	\N	EFO	8	EFO	disease	X-linked hyper-IgM syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101088	"" []	6550463	\N	\N	EFO	9	EFO	disposition	X-linked hyper-IgM syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101088	"" []	6889004	\N	\N	EFO	10	EFO	material property	X-linked hyper-IgM syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101088	"" []	7085897	\N	\N	EFO	11	EFO	experimental factor	X-linked hyper-IgM syndrome
Orphanet:101089	\N	\N	"" []	Orphanet:101089	"" []	73200	\N	\N	EFO	0	EFO	Hyper-IgM syndrome type 2	Hyper-IgM syndrome type 2
Orphanet:183666	Orphanet:101089	\N	"" []	Orphanet:101089	"" []	214310	\N	\N	EFO	1	EFO	Hyper-IgM syndrome without susceptibility to opportunistic infections	Hyper-IgM syndrome type 2
Orphanet:331240	Orphanet:183666	\N	"" []	Orphanet:101089	"" []	568276	\N	\N	EFO	2	EFO	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	Hyper-IgM syndrome type 2
Orphanet:101977	Orphanet:331240	\N	"" []	Orphanet:101089	"" []	1149800	\N	\N	EFO	3	EFO	Immunodeficiency predominantly affecting antibody production	Hyper-IgM syndrome type 2
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:101089	"" []	2032021	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Hyper-IgM syndrome type 2
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:101089	"" []	3182623	\N	\N	EFO	5	EFO	Primary immunodeficiency	Hyper-IgM syndrome type 2
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:101089	"" []	4390668	\N	\N	EFO	6	EFO	Rare genetic immune disease	Hyper-IgM syndrome type 2
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101089	"" []	5409929	\N	\N	EFO	7	EFO	genetic disorder	Hyper-IgM syndrome type 2
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:101089	"" []	5409930	\N	\N	EFO	7	EFO	immune system disease	Hyper-IgM syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101089	"" []	6147851	\N	\N	EFO	8	EFO	disease	Hyper-IgM syndrome type 2
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101089	"" []	6147852	\N	\N	EFO	8	EFO	disease	Hyper-IgM syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101089	"" []	6631979	\N	\N	EFO	9	EFO	disposition	Hyper-IgM syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101089	"" []	6925369	\N	\N	EFO	10	EFO	material property	Hyper-IgM syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101089	"" []	7098997	\N	\N	EFO	11	EFO	experimental factor	Hyper-IgM syndrome type 2
Orphanet:101090	\N	\N	"" []	Orphanet:101090	"" []	73201	\N	\N	EFO	0	EFO	Hyper-IgM syndrome type 3	Hyper-IgM syndrome type 3
Orphanet:183663	Orphanet:101090	\N	"" []	Orphanet:101090	"" []	214311	\N	\N	EFO	1	EFO	Hyper-IgM syndrome with susceptibility to opportunistic infections	Hyper-IgM syndrome type 3
Orphanet:101972	Orphanet:183663	\N	"" []	Orphanet:101090	"" []	568277	\N	\N	EFO	2	EFO	Combined T and B cell immunodeficiency	Hyper-IgM syndrome type 3
Orphanet:331240	Orphanet:183663	\N	"" []	Orphanet:101090	"" []	568278	\N	\N	EFO	2	EFO	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	Hyper-IgM syndrome type 3
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:101090	"" []	1149801	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Hyper-IgM syndrome type 3
Orphanet:101977	Orphanet:331240	\N	"" []	Orphanet:101090	"" []	1149802	\N	\N	EFO	3	EFO	Immunodeficiency predominantly affecting antibody production	Hyper-IgM syndrome type 3
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:101090	"" []	3182625	\N	\N	EFO	5	EFO	Primary immunodeficiency	Hyper-IgM syndrome type 3
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:101090	"" []	2032023	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Hyper-IgM syndrome type 3
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:101090	"" []	4133191	\N	\N	EFO	6	EFO	Rare genetic immune disease	Hyper-IgM syndrome type 3
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101090	"" []	5181453	\N	\N	EFO	7	EFO	genetic disorder	Hyper-IgM syndrome type 3
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:101090	"" []	5181454	\N	\N	EFO	7	EFO	immune system disease	Hyper-IgM syndrome type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101090	"" []	5996841	\N	\N	EFO	8	EFO	disease	Hyper-IgM syndrome type 3
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101090	"" []	5996842	\N	\N	EFO	8	EFO	disease	Hyper-IgM syndrome type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101090	"" []	6550464	\N	\N	EFO	9	EFO	disposition	Hyper-IgM syndrome type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101090	"" []	6889005	\N	\N	EFO	10	EFO	material property	Hyper-IgM syndrome type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101090	"" []	7085898	\N	\N	EFO	11	EFO	experimental factor	Hyper-IgM syndrome type 3
Orphanet:101091	\N	\N	"" []	Orphanet:101091	"" []	73202	\N	\N	EFO	0	EFO	Hyper-IgM syndrome type 4	Hyper-IgM syndrome type 4
Orphanet:183666	Orphanet:101091	\N	"" []	Orphanet:101091	"" []	214312	\N	\N	EFO	1	EFO	Hyper-IgM syndrome without susceptibility to opportunistic infections	Hyper-IgM syndrome type 4
Orphanet:331240	Orphanet:183666	\N	"" []	Orphanet:101091	"" []	568279	\N	\N	EFO	2	EFO	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	Hyper-IgM syndrome type 4
Orphanet:101977	Orphanet:331240	\N	"" []	Orphanet:101091	"" []	1149803	\N	\N	EFO	3	EFO	Immunodeficiency predominantly affecting antibody production	Hyper-IgM syndrome type 4
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:101091	"" []	2032024	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Hyper-IgM syndrome type 4
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:101091	"" []	3182626	\N	\N	EFO	5	EFO	Primary immunodeficiency	Hyper-IgM syndrome type 4
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:101091	"" []	4390671	\N	\N	EFO	6	EFO	Rare genetic immune disease	Hyper-IgM syndrome type 4
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101091	"" []	5409933	\N	\N	EFO	7	EFO	genetic disorder	Hyper-IgM syndrome type 4
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:101091	"" []	5409934	\N	\N	EFO	7	EFO	immune system disease	Hyper-IgM syndrome type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101091	"" []	6147854	\N	\N	EFO	8	EFO	disease	Hyper-IgM syndrome type 4
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101091	"" []	6147855	\N	\N	EFO	8	EFO	disease	Hyper-IgM syndrome type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101091	"" []	6631981	\N	\N	EFO	9	EFO	disposition	Hyper-IgM syndrome type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101091	"" []	6925371	\N	\N	EFO	10	EFO	material property	Hyper-IgM syndrome type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101091	"" []	7098998	\N	\N	EFO	11	EFO	experimental factor	Hyper-IgM syndrome type 4
Orphanet:101092	\N	\N	"" []	Orphanet:101092	"" []	73203	\N	\N	EFO	0	EFO	Hyper-IgM syndrome type 5	Hyper-IgM syndrome type 5
Orphanet:183666	Orphanet:101092	\N	"" []	Orphanet:101092	"" []	214313	\N	\N	EFO	1	EFO	Hyper-IgM syndrome without susceptibility to opportunistic infections	Hyper-IgM syndrome type 5
Orphanet:331240	Orphanet:183666	\N	"" []	Orphanet:101092	"" []	568280	\N	\N	EFO	2	EFO	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	Hyper-IgM syndrome type 5
Orphanet:101977	Orphanet:331240	\N	"" []	Orphanet:101092	"" []	1149804	\N	\N	EFO	3	EFO	Immunodeficiency predominantly affecting antibody production	Hyper-IgM syndrome type 5
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:101092	"" []	2032025	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Hyper-IgM syndrome type 5
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:101092	"" []	3182627	\N	\N	EFO	5	EFO	Primary immunodeficiency	Hyper-IgM syndrome type 5
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:101092	"" []	4390672	\N	\N	EFO	6	EFO	Rare genetic immune disease	Hyper-IgM syndrome type 5
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101092	"" []	5409935	\N	\N	EFO	7	EFO	genetic disorder	Hyper-IgM syndrome type 5
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:101092	"" []	5409936	\N	\N	EFO	7	EFO	immune system disease	Hyper-IgM syndrome type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101092	"" []	6147856	\N	\N	EFO	8	EFO	disease	Hyper-IgM syndrome type 5
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101092	"" []	6147857	\N	\N	EFO	8	EFO	disease	Hyper-IgM syndrome type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101092	"" []	6631982	\N	\N	EFO	9	EFO	disposition	Hyper-IgM syndrome type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101092	"" []	6925372	\N	\N	EFO	10	EFO	material property	Hyper-IgM syndrome type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101092	"" []	7098999	\N	\N	EFO	11	EFO	experimental factor	Hyper-IgM syndrome type 5
Orphanet:101097	\N	\N	"" []	Orphanet:101097	"" []	73204	\N	\N	EFO	0	EFO	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Orphanet:91024	Orphanet:101097	\N	"" []	Orphanet:101097	"" []	214314	\N	\N	EFO	1	EFO	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Orphanet:140450	Orphanet:91024	\N	"" []	Orphanet:101097	"" []	568281	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Orphanet:166	Orphanet:91024	\N	"" []	Orphanet:101097	"" []	568282	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:101097	"" []	1149805	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:101097	"" []	1149806	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:101097	"" []	1149807	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101097	"" []	2032026	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:101097	"" []	2032027	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101097	"" []	3182628	\N	\N	EFO	5	EFO	nervous system disease	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101097	"" []	3182629	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101097	"" []	4390673	\N	\N	EFO	6	EFO	disease	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101097	"" []	4390674	\N	\N	EFO	6	EFO	disease	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101097	"" []	5409937	\N	\N	EFO	7	EFO	disposition	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101097	"" []	6147858	\N	\N	EFO	8	EFO	material property	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101097	"" []	6631983	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Orphanet:101101	\N	\N	"" []	Orphanet:101101	"" []	73205	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 2B2	Charcot-Marie-Tooth disease type 2B2
Orphanet:91024	Orphanet:101101	\N	"" []	Orphanet:101101	"" []	214315	\N	\N	EFO	1	EFO	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2	Charcot-Marie-Tooth disease type 2B2
Orphanet:140450	Orphanet:91024	\N	"" []	Orphanet:101101	"" []	568283	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 2B2
Orphanet:166	Orphanet:91024	\N	"" []	Orphanet:101101	"" []	568284	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 2B2
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:101101	"" []	1149808	\N	\N	EFO	3	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 2B2
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:101101	"" []	1149809	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 2B2
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:101101	"" []	1149810	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 2B2
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101101	"" []	2032028	\N	\N	EFO	4	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 2B2
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:101101	"" []	2032029	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 2B2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101101	"" []	3182630	\N	\N	EFO	5	EFO	nervous system disease	Charcot-Marie-Tooth disease type 2B2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101101	"" []	3182631	\N	\N	EFO	5	EFO	genetic disorder	Charcot-Marie-Tooth disease type 2B2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101101	"" []	4390675	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease type 2B2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101101	"" []	4390676	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease type 2B2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101101	"" []	5409938	\N	\N	EFO	7	EFO	disposition	Charcot-Marie-Tooth disease type 2B2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101101	"" []	6147859	\N	\N	EFO	8	EFO	material property	Charcot-Marie-Tooth disease type 2B2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101101	"" []	6631984	\N	\N	EFO	9	EFO	experimental factor	Charcot-Marie-Tooth disease type 2B2
Orphanet:101102	\N	\N	"" []	Orphanet:101102	"" []	73206	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 2H	Charcot-Marie-Tooth disease type 2H
Orphanet:91024	Orphanet:101102	\N	"" []	Orphanet:101102	"" []	214316	\N	\N	EFO	1	EFO	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2	Charcot-Marie-Tooth disease type 2H
Orphanet:140450	Orphanet:91024	\N	"" []	Orphanet:101102	"" []	568285	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 2H
Orphanet:166	Orphanet:91024	\N	"" []	Orphanet:101102	"" []	568286	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 2H
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:101102	"" []	1149811	\N	\N	EFO	3	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 2H
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:101102	"" []	1149812	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 2H
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:101102	"" []	1149813	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 2H
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101102	"" []	2032030	\N	\N	EFO	4	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 2H
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:101102	"" []	2032031	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 2H
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101102	"" []	3182632	\N	\N	EFO	5	EFO	nervous system disease	Charcot-Marie-Tooth disease type 2H
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101102	"" []	3182633	\N	\N	EFO	5	EFO	genetic disorder	Charcot-Marie-Tooth disease type 2H
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101102	"" []	4390677	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease type 2H
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101102	"" []	4390678	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease type 2H
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101102	"" []	5409939	\N	\N	EFO	7	EFO	disposition	Charcot-Marie-Tooth disease type 2H
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101102	"" []	6147860	\N	\N	EFO	8	EFO	material property	Charcot-Marie-Tooth disease type 2H
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101102	"" []	6631985	\N	\N	EFO	9	EFO	experimental factor	Charcot-Marie-Tooth disease type 2H
Orphanet:101104	\N	\N	"" []	Orphanet:101104	"" []	73207	\N	\N	EFO	0	EFO	Marin-Amat syndrome	Marin-Amat syndrome
Orphanet:91412	Orphanet:101104	\N	"" []	Orphanet:101104	"" []	214317	\N	\N	EFO	1	EFO	Marcus-Gunn syndrome	Marin-Amat syndrome
Orphanet:98578	Orphanet:91412	\N	"" []	Orphanet:101104	"" []	568287	\N	\N	EFO	2	EFO	Ptosis	Marin-Amat syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:101104	"" []	1149814	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Marin-Amat syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:101104	"" []	2032032	\N	\N	EFO	4	EFO	Rare palpebral disease	Marin-Amat syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:101104	"" []	3182634	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Marin-Amat syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:101104	"" []	4390679	\N	\N	EFO	6	EFO	Rare genetic eye disease	Marin-Amat syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101104	"" []	5409940	\N	\N	EFO	7	EFO	genetic disorder	Marin-Amat syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:101104	"" []	5409941	\N	\N	EFO	7	EFO	eye disease	Marin-Amat syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101104	"" []	6147861	\N	\N	EFO	8	EFO	disease	Marin-Amat syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101104	"" []	6147862	\N	\N	EFO	8	EFO	disease	Marin-Amat syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101104	"" []	6631986	\N	\N	EFO	9	EFO	disposition	Marin-Amat syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101104	"" []	6925373	\N	\N	EFO	10	EFO	material property	Marin-Amat syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101104	"" []	7099000	\N	\N	EFO	11	EFO	experimental factor	Marin-Amat syndrome
Orphanet:101108	\N	\N	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	73208	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 23	Spinocerebellar ataxia type 23
Orphanet:94145	Orphanet:101108	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	214318	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 23
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	568288	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 23
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	1149815	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 23
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	1149816	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 23
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	1149817	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 23
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	2032033	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 23
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	2032034	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 23
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	2032035	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 23
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	6147865	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 23
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	3182636	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 23
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	3182637	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 23
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	6409784	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 23
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	4390681	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 23
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	4390682	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 23
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	4390683	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 23
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	6807642	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 23
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	5409943	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 23
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	5409944	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 23
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	5409945	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 23
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	5409946	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 23
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	5409947	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 23
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	5409948	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 23
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	5409949	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 23
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	7048517	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 23
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	6147864	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 23
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	6147866	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 23
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	6147868	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 23
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	7190178	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 23
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101108	"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." []	6631988	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 23
Orphanet:101109	\N	\N	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	73209	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 28	Spinocerebellar ataxia type 28
Orphanet:35696	Orphanet:101109	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	214319	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Spinocerebellar ataxia type 28
Orphanet:94145	Orphanet:101109	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	214320	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 28
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	568289	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Spinocerebellar ataxia type 28
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	568290	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 28
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	1149818	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Spinocerebellar ataxia type 28
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	1149819	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 28
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	1149820	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 28
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	1149821	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 28
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	2032036	\N	\N	EFO	4	EFO	Mitochondrial disease	Spinocerebellar ataxia type 28
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	2032037	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 28
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	2032038	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 28
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	2032039	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 28
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	3182638	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Spinocerebellar ataxia type 28
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	3182639	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Spinocerebellar ataxia type 28
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	6147873	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 28
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	3182641	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 28
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	3182642	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 28
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	4390684	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Spinocerebellar ataxia type 28
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	4390685	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Spinocerebellar ataxia type 28
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	6409785	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 28
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	4390687	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 28
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	4390688	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 28
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	4390689	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 28
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	5409950	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 28
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	5409951	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 28
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	5409952	\N	\N	EFO	7	EFO	metabolic disease	Spinocerebellar ataxia type 28
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	6807643	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 28
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	5409954	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 28
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	5409955	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 28
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	5409956	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 28
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	5409957	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 28
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	5409958	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 28
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	5409959	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 28
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	5409960	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 28
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	6147870	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 28
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	7048518	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 28
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	6147872	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 28
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	6147874	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 28
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	6147875	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 28
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	7190179	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 28
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101109	"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." []	6631990	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 28
Orphanet:101110	\N	\N	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	73210	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 20	Spinocerebellar ataxia type 20
Orphanet:94145	Orphanet:101110	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	214321	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 20
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	568291	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 20
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	1149822	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 20
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	1149823	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 20
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	1149824	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 20
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	2032040	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 20
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	2032041	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 20
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	2032042	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 20
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	6147878	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 20
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	3182644	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 20
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	3182645	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 20
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	6409786	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 20
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	4390691	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 20
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	4390692	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 20
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	4390693	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 20
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	6807644	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 20
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	5409962	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 20
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	5409963	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 20
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	5409964	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 20
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	5409965	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 20
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	5409966	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 20
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	5409967	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 20
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	5409968	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 20
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	7048519	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 20
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	6147877	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 20
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	6147879	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 20
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	6147881	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 20
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	7190180	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 20
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101110	"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." []	6631992	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 20
Orphanet:101111	\N	\N	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	73211	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 25	Spinocerebellar ataxia type 25
Orphanet:94145	Orphanet:101111	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	214322	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 25
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	568292	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 25
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	1149825	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 25
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	1149826	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 25
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	1149827	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 25
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	2032043	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 25
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	2032044	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 25
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	2032045	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 25
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	6147884	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 25
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	3182647	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 25
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	3182648	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 25
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	6409787	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 25
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	4390695	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 25
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	4390696	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 25
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	4390697	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 25
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	6807645	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 25
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	5409970	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 25
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	5409971	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 25
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	5409972	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 25
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	5409973	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 25
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	5409974	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 25
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	5409975	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 25
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	5409976	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 25
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	7048520	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 25
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	6147883	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 25
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	6147885	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 25
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	6147887	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 25
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	7190181	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 25
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101111	"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." []	6631994	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 25
Orphanet:101112	\N	\N	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	73212	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 26	Spinocerebellar ataxia type 26
Orphanet:94148	Orphanet:101112	\N	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	214323	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 3	Spinocerebellar ataxia type 26
Orphanet:99	Orphanet:94148	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	568293	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 26
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	1149828	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 26
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	1149829	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 26
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	1149830	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 26
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	2032046	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 26
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	2032047	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 26
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	2032048	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 26
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	6147890	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 26
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	3182650	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 26
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	3182651	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 26
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	6409788	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 26
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	4390699	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 26
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	4390700	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 26
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	4390701	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 26
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	6807646	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 26
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	5409978	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 26
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	5409979	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 26
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	5409980	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 26
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	5409981	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 26
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	5409982	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 26
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	5409983	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 26
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	5409984	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 26
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	7048521	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 26
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	6147889	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 26
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	6147891	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 26
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	6147893	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 26
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	7190182	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 26
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101112	"Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." []	6631996	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 26
Orphanet:101150	\N	\N	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	73213	\N	\N	EFO	0	EFO	Autosomal recessive dopa-responsive dystonia	Autosomal recessive dopa-responsive dystonia
Orphanet:255	Orphanet:101150	\N	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	214324	\N	\N	EFO	1	EFO	Dopa-responsive dystonia	Autosomal recessive dopa-responsive dystonia
Orphanet:284818	Orphanet:101150	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	214325	\N	\N	EFO	1	EFO	Disorder of tyrosine metabolism	Autosomal recessive dopa-responsive dystonia
Orphanet:309819	Orphanet:101150	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	214326	\N	\N	EFO	1	EFO	Disorder of pterin metabolism	Autosomal recessive dopa-responsive dystonia
Orphanet:391711	Orphanet:255	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	568294	\N	\N	EFO	2	EFO	Persistent combined dystonia	Autosomal recessive dopa-responsive dystonia
Orphanet:68385	Orphanet:255	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	568295	\N	\N	EFO	2	EFO	Neurometabolic disease	Autosomal recessive dopa-responsive dystonia
Orphanet:79190	Orphanet:284818	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	568296	\N	\N	EFO	2	EFO	Disorder of phenylalanin or tyrosine metabolism	Autosomal recessive dopa-responsive dystonia
Orphanet:79169	Orphanet:309819	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	568297	\N	\N	EFO	2	EFO	Disorder of neurotransmitter metabolism and transport	Autosomal recessive dopa-responsive dystonia
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	1149831	\N	\N	EFO	3	EFO	Combined dystonia	Autosomal recessive dopa-responsive dystonia
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	1149832	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive dopa-responsive dystonia
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	1149833	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Autosomal recessive dopa-responsive dystonia
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	1149834	\N	\N	EFO	3	EFO	Disorder of biogenic amine metabolism and transport	Autosomal recessive dopa-responsive dystonia
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	2032049	\N	\N	EFO	4	EFO	Rare genetic dystonia	Autosomal recessive dopa-responsive dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	5409986	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive dopa-responsive dystonia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	2032051	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive dopa-responsive dystonia
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	2032052	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive dopa-responsive dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	3182652	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Autosomal recessive dopa-responsive dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	5817428	\N	\N	EFO	8	EFO	disease	Autosomal recessive dopa-responsive dystonia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	3182654	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive dopa-responsive dystonia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	3182655	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive dopa-responsive dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	4390702	\N	\N	EFO	6	EFO	movement disorder	Autosomal recessive dopa-responsive dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	4390703	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive dopa-responsive dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	6409789	\N	\N	EFO	9	EFO	disposition	Autosomal recessive dopa-responsive dystonia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	4390706	\N	\N	EFO	6	EFO	disease	Autosomal recessive dopa-responsive dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	5409985	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive dopa-responsive dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	6807647	\N	\N	EFO	10	EFO	material property	Autosomal recessive dopa-responsive dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	6147894	\N	\N	EFO	8	EFO	disease	Autosomal recessive dopa-responsive dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101150	"Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." []	7048522	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive dopa-responsive dystonia
Orphanet:101330	\N	\N	"" []	Orphanet:101330	"" []	73214	\N	\N	EFO	0	EFO	Porphyria cutanea tarda	Porphyria cutanea tarda
Orphanet:95161	Orphanet:101330	\N	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	Orphanet:101330	"" []	214327	\N	\N	EFO	1	EFO	Chronic hepatic porphyria	Porphyria cutanea tarda
Orphanet:98696	Orphanet:101330	\N	"" []	Orphanet:101330	"" []	214328	\N	\N	EFO	1	EFO	Genodermatosis with ocular features	Porphyria cutanea tarda
Orphanet:738	Orphanet:95161	\N	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	Orphanet:101330	"" []	568298	\N	\N	EFO	2	EFO	Porphyria	Porphyria cutanea tarda
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:101330	"" []	568299	\N	\N	EFO	2	EFO	Rare genetic eye disease	Porphyria cutanea tarda
Orphanet:183490	Orphanet:738	\N	"" []	Orphanet:101330	"" []	1149835	\N	\N	EFO	3	EFO	Genetic photodermatosis	Porphyria cutanea tarda
Orphanet:309813	Orphanet:738	\N	"" []	Orphanet:101330	"" []	1149836	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Porphyria cutanea tarda
Orphanet:79387	Orphanet:738	\N	"" []	Orphanet:101330	"" []	1149837	\N	\N	EFO	3	EFO	Metabolic disease with skin involvement	Porphyria cutanea tarda
Orphanet:93593	Orphanet:738	\N	"" []	Orphanet:101330	"" []	1149838	\N	\N	EFO	3	EFO	Nephropathy secondary to a storage or other metabolic disease	Porphyria cutanea tarda
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101330	"" []	1149839	\N	\N	EFO	3	EFO	genetic disorder	Porphyria cutanea tarda
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:101330	"" []	1149840	\N	\N	EFO	3	EFO	eye disease	Porphyria cutanea tarda
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:101330	"" []	2032053	\N	\N	EFO	4	EFO	Rare genetic skin disease	Porphyria cutanea tarda
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:101330	"" []	2032054	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Porphyria cutanea tarda
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:101330	"" []	2032055	\N	\N	EFO	4	EFO	Rare genetic skin disease	Porphyria cutanea tarda
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:101330	"" []	2032056	\N	\N	EFO	4	EFO	Rare genetic renal disease	Porphyria cutanea tarda
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101330	"" []	4390707	\N	\N	EFO	6	EFO	disease	Porphyria cutanea tarda
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101330	"" []	2032058	\N	\N	EFO	4	EFO	disease	Porphyria cutanea tarda
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101330	"" []	3182656	\N	\N	EFO	5	EFO	genetic disorder	Porphyria cutanea tarda
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:101330	"" []	3182657	\N	\N	EFO	5	EFO	skin disease	Porphyria cutanea tarda
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101330	"" []	3182658	\N	\N	EFO	5	EFO	genetic disorder	Porphyria cutanea tarda
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:101330	"" []	3182659	\N	\N	EFO	5	EFO	metabolic disease	Porphyria cutanea tarda
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101330	"" []	3182660	\N	\N	EFO	5	EFO	genetic disorder	Porphyria cutanea tarda
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101330	"" []	5059539	\N	\N	EFO	7	EFO	disposition	Porphyria cutanea tarda
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101330	"" []	4390708	\N	\N	EFO	6	EFO	disease	Porphyria cutanea tarda
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101330	"" []	4390709	\N	\N	EFO	6	EFO	disease	Porphyria cutanea tarda
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101330	"" []	5876692	\N	\N	EFO	8	EFO	material property	Porphyria cutanea tarda
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101330	"" []	6469905	\N	\N	EFO	9	EFO	experimental factor	Porphyria cutanea tarda
Orphanet:101351	\N	\N	"" []	Orphanet:101351	"" []	73215	\N	\N	EFO	0	EFO	Familial isolated congenital asplenia	Familial isolated congenital asplenia
Orphanet:108971	Orphanet:101351	\N	"" []	Orphanet:101351	"" []	214329	\N	\N	EFO	1	EFO	Non-syndromic visceral malformation	Familial isolated congenital asplenia
Orphanet:179006	Orphanet:101351	\N	"" []	Orphanet:101351	"" []	214330	\N	\N	EFO	1	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Familial isolated congenital asplenia
Orphanet:183548	Orphanet:108971	\N	"" []	Orphanet:101351	"" []	568300	\N	\N	EFO	2	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Familial isolated congenital asplenia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:101351	"" []	568301	\N	\N	EFO	2	EFO	Primary immunodeficiency	Familial isolated congenital asplenia
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:101351	"" []	1149841	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Familial isolated congenital asplenia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:101351	"" []	1149842	\N	\N	EFO	3	EFO	Rare genetic immune disease	Familial isolated congenital asplenia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101351	"" []	2032059	\N	\N	EFO	4	EFO	genetic disorder	Familial isolated congenital asplenia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101351	"" []	2032060	\N	\N	EFO	4	EFO	genetic disorder	Familial isolated congenital asplenia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:101351	"" []	2032061	\N	\N	EFO	4	EFO	immune system disease	Familial isolated congenital asplenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101351	"" []	3182662	\N	\N	EFO	5	EFO	disease	Familial isolated congenital asplenia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101351	"" []	3182663	\N	\N	EFO	5	EFO	disease	Familial isolated congenital asplenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101351	"" []	4390711	\N	\N	EFO	6	EFO	disposition	Familial isolated congenital asplenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101351	"" []	5409989	\N	\N	EFO	7	EFO	material property	Familial isolated congenital asplenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101351	"" []	6147896	\N	\N	EFO	8	EFO	experimental factor	Familial isolated congenital asplenia
Orphanet:1014	\N	\N	"" []	Orphanet:1014	"" []	73216	\N	\N	EFO	0	EFO	Alopecia - intellectual disability - hypergonadotropic hypogonadism	Alopecia - intellectual disability - hypergonadotropic hypogonadism
Orphanet:79364	Orphanet:1014	\N	"" []	Orphanet:1014	"" []	214331	\N	\N	EFO	1	EFO	Alopecia	Alopecia - intellectual disability - hypergonadotropic hypogonadism
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:1014	"" []	568302	\N	\N	EFO	2	EFO	Genetic hair anomaly	Alopecia - intellectual disability - hypergonadotropic hypogonadism
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:1014	"" []	1149843	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Alopecia - intellectual disability - hypergonadotropic hypogonadism
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1014	"" []	2032062	\N	\N	EFO	4	EFO	Rare genetic skin disease	Alopecia - intellectual disability - hypergonadotropic hypogonadism
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1014	"" []	3182664	\N	\N	EFO	5	EFO	genetic disorder	Alopecia - intellectual disability - hypergonadotropic hypogonadism
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1014	"" []	3182665	\N	\N	EFO	5	EFO	skin disease	Alopecia - intellectual disability - hypergonadotropic hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1014	"" []	4390712	\N	\N	EFO	6	EFO	disease	Alopecia - intellectual disability - hypergonadotropic hypogonadism
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1014	"" []	4390713	\N	\N	EFO	6	EFO	disease	Alopecia - intellectual disability - hypergonadotropic hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1014	"" []	5409990	\N	\N	EFO	7	EFO	disposition	Alopecia - intellectual disability - hypergonadotropic hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1014	"" []	6147897	\N	\N	EFO	8	EFO	material property	Alopecia - intellectual disability - hypergonadotropic hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1014	"" []	6631997	\N	\N	EFO	9	EFO	experimental factor	Alopecia - intellectual disability - hypergonadotropic hypogonadism
Orphanet:101435	\N	\N	"" []	Orphanet:101435	"" []	73217	\N	\N	EFO	0	EFO	Rare genetic eye disease	Rare genetic eye disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101435	"" []	214332	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic eye disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:101435	"" []	214333	\N	\N	EFO	1	EFO	eye disease	Rare genetic eye disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101435	"" []	568303	\N	\N	EFO	2	EFO	disease	Rare genetic eye disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101435	"" []	568304	\N	\N	EFO	2	EFO	disease	Rare genetic eye disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101435	"" []	1149844	\N	\N	EFO	3	EFO	disposition	Rare genetic eye disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101435	"" []	2032063	\N	\N	EFO	4	EFO	material property	Rare genetic eye disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101435	"" []	3182666	\N	\N	EFO	5	EFO	experimental factor	Rare genetic eye disease
Orphanet:101685	\N	\N	"" []	Orphanet:101685	"" []	73218	\N	\N	EFO	0	EFO	Rare intellectual disability without developmental anomaly	Rare intellectual disability without developmental anomaly
Orphanet:183757	Orphanet:101685	\N	"" []	Orphanet:101685	"" []	214334	\N	\N	EFO	1	EFO	Rare genetic intellectual disability	Rare intellectual disability without developmental anomaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:101685	"" []	568305	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Rare intellectual disability without developmental anomaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101685	"" []	1149845	\N	\N	EFO	3	EFO	genetic disorder	Rare intellectual disability without developmental anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101685	"" []	2032064	\N	\N	EFO	4	EFO	disease	Rare intellectual disability without developmental anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101685	"" []	3182667	\N	\N	EFO	5	EFO	disposition	Rare intellectual disability without developmental anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101685	"" []	4390714	\N	\N	EFO	6	EFO	material property	Rare intellectual disability without developmental anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101685	"" []	5409991	\N	\N	EFO	7	EFO	experimental factor	Rare intellectual disability without developmental anomaly
Orphanet:1018	\N	\N	"" []	Orphanet:1018	"" []	73219	\N	\N	EFO	0	EFO	X-linked diffuse leiomyomatosis - Alport syndrome	X-linked diffuse leiomyomatosis - Alport syndrome
Orphanet:263756	Orphanet:1018	\N	"" []	Orphanet:1018	"" []	214335	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome X	X-linked diffuse leiomyomatosis - Alport syndrome
Orphanet:93550	Orphanet:1018	\N	"" []	Orphanet:1018	"" []	214336	\N	\N	EFO	1	EFO	Basement membrane disease	X-linked diffuse leiomyomatosis - Alport syndrome
Orphanet:263726	Orphanet:263756	\N	"" []	Orphanet:1018	"" []	568306	\N	\N	EFO	2	EFO	Partial deletion of chromosome X	X-linked diffuse leiomyomatosis - Alport syndrome
Orphanet:183586	Orphanet:93550	\N	"" []	Orphanet:1018	"" []	568307	\N	\N	EFO	2	EFO	Genetic glomerular disease	X-linked diffuse leiomyomatosis - Alport syndrome
Orphanet:98159	Orphanet:263726	\N	"" []	Orphanet:1018	"" []	1149846	\N	\N	EFO	3	EFO	Chromosome X structural anomaly	X-linked diffuse leiomyomatosis - Alport syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:1018	"" []	1149847	\N	\N	EFO	3	EFO	Rare genetic renal disease	X-linked diffuse leiomyomatosis - Alport syndrome
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:1018	"" []	2032065	\N	\N	EFO	4	EFO	Gonosome structural anomaly	X-linked diffuse leiomyomatosis - Alport syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1018	"" []	2032066	\N	\N	EFO	4	EFO	genetic disorder	X-linked diffuse leiomyomatosis - Alport syndrome
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:1018	"" []	3182668	\N	\N	EFO	5	EFO	Gonosome anomaly	X-linked diffuse leiomyomatosis - Alport syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1018	"" []	6147898	\N	\N	EFO	8	EFO	disease	X-linked diffuse leiomyomatosis - Alport syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:1018	"" []	4390715	\N	\N	EFO	6	EFO	Chromosomal anomaly	X-linked diffuse leiomyomatosis - Alport syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1018	"" []	6409790	\N	\N	EFO	9	EFO	disposition	X-linked diffuse leiomyomatosis - Alport syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1018	"" []	5409992	\N	\N	EFO	7	EFO	genetic disorder	X-linked diffuse leiomyomatosis - Alport syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1018	"" []	6807648	\N	\N	EFO	10	EFO	material property	X-linked diffuse leiomyomatosis - Alport syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1018	"" []	7048523	\N	\N	EFO	11	EFO	experimental factor	X-linked diffuse leiomyomatosis - Alport syndrome
Orphanet:101934	\N	\N	"" []	Orphanet:101934	"" []	73220	\N	\N	EFO	0	EFO	Genetic cardiac rhythm disease	Genetic cardiac rhythm disease
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:101934	"" []	214337	\N	\N	EFO	1	EFO	Rare genetic cardiac disease	Genetic cardiac rhythm disease
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101934	"" []	568308	\N	\N	EFO	2	EFO	genetic disorder	Genetic cardiac rhythm disease
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:101934	"" []	568309	\N	\N	EFO	2	EFO	heart disease	Genetic cardiac rhythm disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101934	"" []	1149848	\N	\N	EFO	3	EFO	disease	Genetic cardiac rhythm disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:101934	"" []	1149849	\N	\N	EFO	3	EFO	cardiovascular disease	Genetic cardiac rhythm disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101934	"" []	3182671	\N	\N	EFO	5	EFO	disposition	Genetic cardiac rhythm disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101934	"" []	2032068	\N	\N	EFO	4	EFO	disease	Genetic cardiac rhythm disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101934	"" []	4133192	\N	\N	EFO	6	EFO	material property	Genetic cardiac rhythm disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101934	"" []	5181456	\N	\N	EFO	7	EFO	experimental factor	Genetic cardiac rhythm disease
Orphanet:101940	\N	\N	"" []	Orphanet:101940	"" []	73221	\N	\N	EFO	0	EFO	Rare metabolic liver disease	Rare metabolic liver disease
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:101940	"" []	214338	\N	\N	EFO	1	EFO	Rare genetic hepatic disease	Rare metabolic liver disease
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:101940	"" []	568310	\N	\N	EFO	2	EFO	digestive system disease	Rare metabolic liver disease
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101940	"" []	568311	\N	\N	EFO	2	EFO	genetic disorder	Rare metabolic liver disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101940	"" []	1149850	\N	\N	EFO	3	EFO	disease	Rare metabolic liver disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101940	"" []	1149851	\N	\N	EFO	3	EFO	disease	Rare metabolic liver disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101940	"" []	2032069	\N	\N	EFO	4	EFO	disposition	Rare metabolic liver disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101940	"" []	3182672	\N	\N	EFO	5	EFO	material property	Rare metabolic liver disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101940	"" []	4390718	\N	\N	EFO	6	EFO	experimental factor	Rare metabolic liver disease
Orphanet:101953	\N	\N	"" []	Orphanet:101953	"" []	73222	\N	\N	EFO	0	EFO	Rare dyslipidemia	Rare dyslipidemia
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:101953	"" []	214339	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Rare dyslipidemia
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:101953	"" []	214340	\N	\N	EFO	1	EFO	Disorder of lipid metabolism	Rare dyslipidemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101953	"" []	568312	\N	\N	EFO	2	EFO	genetic disorder	Rare dyslipidemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:101953	"" []	568313	\N	\N	EFO	2	EFO	endocrine system disease	Rare dyslipidemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:101953	"" []	568314	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Rare dyslipidemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101953	"" []	2032071	\N	\N	EFO	4	EFO	disease	Rare dyslipidemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101953	"" []	1149853	\N	\N	EFO	3	EFO	disease	Rare dyslipidemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101953	"" []	1149854	\N	\N	EFO	3	EFO	genetic disorder	Rare dyslipidemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:101953	"" []	1149855	\N	\N	EFO	3	EFO	metabolic disease	Rare dyslipidemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101953	"" []	3000103	\N	\N	EFO	5	EFO	disposition	Rare dyslipidemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101953	"" []	2032072	\N	\N	EFO	4	EFO	disease	Rare dyslipidemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101953	"" []	4133193	\N	\N	EFO	6	EFO	material property	Rare dyslipidemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101953	"" []	5181457	\N	\N	EFO	7	EFO	experimental factor	Rare dyslipidemia
Orphanet:101957	\N	\N	"" []	Orphanet:101957	"" []	73223	\N	\N	EFO	0	EFO	Pituitary deficiency	Pituitary deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:101957	"" []	214341	\N	\N	EFO	1	EFO	Rare genetic hypothalamic or pituitary disease	Pituitary deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:101957	"" []	568315	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Pituitary deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101957	"" []	1149856	\N	\N	EFO	3	EFO	genetic disorder	Pituitary deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:101957	"" []	1149857	\N	\N	EFO	3	EFO	endocrine system disease	Pituitary deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101957	"" []	2032073	\N	\N	EFO	4	EFO	disease	Pituitary deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101957	"" []	2032074	\N	\N	EFO	4	EFO	disease	Pituitary deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101957	"" []	3182674	\N	\N	EFO	5	EFO	disposition	Pituitary deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101957	"" []	4390720	\N	\N	EFO	6	EFO	material property	Pituitary deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101957	"" []	5409994	\N	\N	EFO	7	EFO	experimental factor	Pituitary deficiency
Orphanet:101960	\N	\N	"" []	Orphanet:101960	"" []	73224	\N	\N	EFO	0	EFO	Genetic chronic primary adrenal insufficiency	Genetic chronic primary adrenal insufficiency
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:101960	"" []	214342	\N	\N	EFO	1	EFO	Rare genetic adrenal disease	Genetic chronic primary adrenal insufficiency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:101960	"" []	568316	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Genetic chronic primary adrenal insufficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101960	"" []	1149858	\N	\N	EFO	3	EFO	genetic disorder	Genetic chronic primary adrenal insufficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:101960	"" []	1149859	\N	\N	EFO	3	EFO	endocrine system disease	Genetic chronic primary adrenal insufficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101960	"" []	2032075	\N	\N	EFO	4	EFO	disease	Genetic chronic primary adrenal insufficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101960	"" []	2032076	\N	\N	EFO	4	EFO	disease	Genetic chronic primary adrenal insufficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101960	"" []	3182675	\N	\N	EFO	5	EFO	disposition	Genetic chronic primary adrenal insufficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101960	"" []	4390721	\N	\N	EFO	6	EFO	material property	Genetic chronic primary adrenal insufficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101960	"" []	5409995	\N	\N	EFO	7	EFO	experimental factor	Genetic chronic primary adrenal insufficiency
Orphanet:101972	\N	\N	"" []	Orphanet:101972	"" []	73225	\N	\N	EFO	0	EFO	Combined T and B cell immunodeficiency	Combined T and B cell immunodeficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:101972	"" []	214343	\N	\N	EFO	1	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined T and B cell immunodeficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:101972	"" []	568317	\N	\N	EFO	2	EFO	Primary immunodeficiency	Combined T and B cell immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:101972	"" []	1149860	\N	\N	EFO	3	EFO	Rare genetic immune disease	Combined T and B cell immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101972	"" []	2032077	\N	\N	EFO	4	EFO	genetic disorder	Combined T and B cell immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:101972	"" []	2032078	\N	\N	EFO	4	EFO	immune system disease	Combined T and B cell immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101972	"" []	3182676	\N	\N	EFO	5	EFO	disease	Combined T and B cell immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101972	"" []	3182677	\N	\N	EFO	5	EFO	disease	Combined T and B cell immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101972	"" []	4390722	\N	\N	EFO	6	EFO	disposition	Combined T and B cell immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101972	"" []	5409996	\N	\N	EFO	7	EFO	material property	Combined T and B cell immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101972	"" []	6147900	\N	\N	EFO	8	EFO	experimental factor	Combined T and B cell immunodeficiency
Orphanet:101977	\N	\N	"" []	Orphanet:101977	"" []	73226	\N	\N	EFO	0	EFO	Immunodeficiency predominantly affecting antibody production	Immunodeficiency predominantly affecting antibody production
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:101977	"" []	214344	\N	\N	EFO	1	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immunodeficiency predominantly affecting antibody production
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:101977	"" []	568318	\N	\N	EFO	2	EFO	Primary immunodeficiency	Immunodeficiency predominantly affecting antibody production
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:101977	"" []	1149861	\N	\N	EFO	3	EFO	Rare genetic immune disease	Immunodeficiency predominantly affecting antibody production
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101977	"" []	2032079	\N	\N	EFO	4	EFO	genetic disorder	Immunodeficiency predominantly affecting antibody production
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:101977	"" []	2032080	\N	\N	EFO	4	EFO	immune system disease	Immunodeficiency predominantly affecting antibody production
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101977	"" []	3182678	\N	\N	EFO	5	EFO	disease	Immunodeficiency predominantly affecting antibody production
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101977	"" []	3182679	\N	\N	EFO	5	EFO	disease	Immunodeficiency predominantly affecting antibody production
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101977	"" []	4390723	\N	\N	EFO	6	EFO	disposition	Immunodeficiency predominantly affecting antibody production
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101977	"" []	5409997	\N	\N	EFO	7	EFO	material property	Immunodeficiency predominantly affecting antibody production
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101977	"" []	6147901	\N	\N	EFO	8	EFO	experimental factor	Immunodeficiency predominantly affecting antibody production
Orphanet:101987	\N	\N	"" []	Orphanet:101987	"" []	73227	\N	\N	EFO	0	EFO	Constitutional neutropenia	Constitutional neutropenia
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:101987	"" []	214345	\N	\N	EFO	1	EFO	Primary immunodeficiency due to a defect in innate immunity	Constitutional neutropenia
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:101987	"" []	568319	\N	\N	EFO	2	EFO	Primary immunodeficiency	Constitutional neutropenia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:101987	"" []	1149862	\N	\N	EFO	3	EFO	Rare genetic immune disease	Constitutional neutropenia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101987	"" []	2032081	\N	\N	EFO	4	EFO	genetic disorder	Constitutional neutropenia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:101987	"" []	2032082	\N	\N	EFO	4	EFO	immune system disease	Constitutional neutropenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101987	"" []	3182680	\N	\N	EFO	5	EFO	disease	Constitutional neutropenia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101987	"" []	3182681	\N	\N	EFO	5	EFO	disease	Constitutional neutropenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101987	"" []	4390724	\N	\N	EFO	6	EFO	disposition	Constitutional neutropenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101987	"" []	5409998	\N	\N	EFO	7	EFO	material property	Constitutional neutropenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101987	"" []	6147902	\N	\N	EFO	8	EFO	experimental factor	Constitutional neutropenia
Orphanet:101988	\N	\N	"" []	Orphanet:101988	"" []	73228	\N	\N	EFO	0	EFO	Primary immunodeficiency due to a defect in innate immunity	Primary immunodeficiency due to a defect in innate immunity
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:101988	"" []	214346	\N	\N	EFO	1	EFO	Primary immunodeficiency	Primary immunodeficiency due to a defect in innate immunity
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:101988	"" []	568320	\N	\N	EFO	2	EFO	Rare genetic immune disease	Primary immunodeficiency due to a defect in innate immunity
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101988	"" []	1149863	\N	\N	EFO	3	EFO	genetic disorder	Primary immunodeficiency due to a defect in innate immunity
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:101988	"" []	1149864	\N	\N	EFO	3	EFO	immune system disease	Primary immunodeficiency due to a defect in innate immunity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101988	"" []	2032083	\N	\N	EFO	4	EFO	disease	Primary immunodeficiency due to a defect in innate immunity
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101988	"" []	2032084	\N	\N	EFO	4	EFO	disease	Primary immunodeficiency due to a defect in innate immunity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101988	"" []	3182682	\N	\N	EFO	5	EFO	disposition	Primary immunodeficiency due to a defect in innate immunity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101988	"" []	4390725	\N	\N	EFO	6	EFO	material property	Primary immunodeficiency due to a defect in innate immunity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101988	"" []	5409999	\N	\N	EFO	7	EFO	experimental factor	Primary immunodeficiency due to a defect in innate immunity
Orphanet:101992	\N	\N	"" []	Orphanet:101992	"" []	73229	\N	\N	EFO	0	EFO	Immunodeficiency due to a complement cascade protein anomaly	Immunodeficiency due to a complement cascade protein anomaly
Orphanet:101988	Orphanet:101992	\N	"" []	Orphanet:101992	"" []	214347	\N	\N	EFO	1	EFO	Primary immunodeficiency due to a defect in innate immunity	Immunodeficiency due to a complement cascade protein anomaly
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:101992	"" []	568321	\N	\N	EFO	2	EFO	Primary immunodeficiency	Immunodeficiency due to a complement cascade protein anomaly
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:101992	"" []	1149865	\N	\N	EFO	3	EFO	Rare genetic immune disease	Immunodeficiency due to a complement cascade protein anomaly
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101992	"" []	2032085	\N	\N	EFO	4	EFO	genetic disorder	Immunodeficiency due to a complement cascade protein anomaly
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:101992	"" []	2032086	\N	\N	EFO	4	EFO	immune system disease	Immunodeficiency due to a complement cascade protein anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101992	"" []	3182683	\N	\N	EFO	5	EFO	disease	Immunodeficiency due to a complement cascade protein anomaly
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101992	"" []	3182684	\N	\N	EFO	5	EFO	disease	Immunodeficiency due to a complement cascade protein anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101992	"" []	4390726	\N	\N	EFO	6	EFO	disposition	Immunodeficiency due to a complement cascade protein anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101992	"" []	5410000	\N	\N	EFO	7	EFO	material property	Immunodeficiency due to a complement cascade protein anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101992	"" []	6147903	\N	\N	EFO	8	EFO	experimental factor	Immunodeficiency due to a complement cascade protein anomaly
Orphanet:101997	\N	\N	"" []	Orphanet:101997	"" []	73230	\N	\N	EFO	0	EFO	Primary immunodeficiency	Primary immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:101997	"" []	214348	\N	\N	EFO	1	EFO	Rare genetic immune disease	Primary immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:101997	"" []	568322	\N	\N	EFO	2	EFO	genetic disorder	Primary immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:101997	"" []	568323	\N	\N	EFO	2	EFO	immune system disease	Primary immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101997	"" []	1149866	\N	\N	EFO	3	EFO	disease	Primary immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:101997	"" []	1149867	\N	\N	EFO	3	EFO	disease	Primary immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:101997	"" []	2032087	\N	\N	EFO	4	EFO	disposition	Primary immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:101997	"" []	3182685	\N	\N	EFO	5	EFO	material property	Primary immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:101997	"" []	4390727	\N	\N	EFO	6	EFO	experimental factor	Primary immunodeficiency
Orphanet:1020	\N	\N	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	73231	\N	\N	EFO	0	EFO	Early-onset autosomal dominant Alzheimer disease	Early-onset autosomal dominant Alzheimer disease
EFO:0000249	Orphanet:1020	\N	"A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	214349	\N	\N	EFO	1	EFO	Alzheimers disease	Early-onset autosomal dominant Alzheimer disease
Orphanet:276058	Orphanet:1020	\N	"" []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	214350	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease with dementia	Early-onset autosomal dominant Alzheimer disease
EFO:0005815	EFO:0000249	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	568324	\N	\N	EFO	2	EFO	tauopathy	Early-onset autosomal dominant Alzheimer disease
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	568325	\N	\N	EFO	2	EFO	Genetic dementia	Early-onset autosomal dominant Alzheimer disease
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	568326	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Early-onset autosomal dominant Alzheimer disease
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	1149868	\N	\N	EFO	3	EFO	neurodegenerative disease	Early-onset autosomal dominant Alzheimer disease
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	1149869	\N	\N	EFO	3	EFO	brain disease	Early-onset autosomal dominant Alzheimer disease
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	1149870	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Early-onset autosomal dominant Alzheimer disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	1149871	\N	\N	EFO	3	EFO	neurodegenerative disease	Early-onset autosomal dominant Alzheimer disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	1149872	\N	\N	EFO	3	EFO	brain disease	Early-onset autosomal dominant Alzheimer disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	1149873	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Early-onset autosomal dominant Alzheimer disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	2032088	\N	\N	EFO	4	EFO	nervous system disease	Early-onset autosomal dominant Alzheimer disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	2032089	\N	\N	EFO	4	EFO	nervous system disease	Early-onset autosomal dominant Alzheimer disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	2032090	\N	\N	EFO	4	EFO	genetic disorder	Early-onset autosomal dominant Alzheimer disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	3182686	\N	\N	EFO	5	EFO	disease	Early-onset autosomal dominant Alzheimer disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	3182687	\N	\N	EFO	5	EFO	disease	Early-onset autosomal dominant Alzheimer disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	4390728	\N	\N	EFO	6	EFO	disposition	Early-onset autosomal dominant Alzheimer disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	5410001	\N	\N	EFO	7	EFO	material property	Early-onset autosomal dominant Alzheimer disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1020	"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." []	6147904	\N	\N	EFO	8	EFO	experimental factor	Early-onset autosomal dominant Alzheimer disease
Orphanet:102009	\N	\N	"" []	Orphanet:102009	"" []	73232	\N	\N	EFO	0	EFO	Classic lissencephaly	Classic lissencephaly
Orphanet:48471	Orphanet:102009	\N	"" []	Orphanet:102009	"" []	214351	\N	\N	EFO	1	EFO	Lissencephaly	Classic lissencephaly
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:102009	"" []	568327	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Classic lissencephaly
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:102009	"" []	568328	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Classic lissencephaly
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:102009	"" []	568329	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Classic lissencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:102009	"" []	1149874	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Classic lissencephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:102009	"" []	1149875	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Classic lissencephaly
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:102009	"" []	1149876	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Classic lissencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:102009	"" []	2032091	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Classic lissencephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:102009	"" []	2032092	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Classic lissencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:102009	"" []	2032093	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Classic lissencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:102009	"" []	2032094	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Classic lissencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102009	"" []	3182688	\N	\N	EFO	5	EFO	genetic disorder	Classic lissencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102009	"" []	3182689	\N	\N	EFO	5	EFO	genetic disorder	Classic lissencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102009	"" []	4390729	\N	\N	EFO	6	EFO	disease	Classic lissencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:102009	"" []	5410002	\N	\N	EFO	7	EFO	disposition	Classic lissencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:102009	"" []	6147905	\N	\N	EFO	8	EFO	material property	Classic lissencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:102009	"" []	6631998	\N	\N	EFO	9	EFO	experimental factor	Classic lissencephaly
Orphanet:102010	\N	\N	"" []	Orphanet:102010	"" []	73233	\N	\N	EFO	0	EFO	Other syndrome with lissencephaly as a major feature	Other syndrome with lissencephaly as a major feature
Orphanet:48471	Orphanet:102010	\N	"" []	Orphanet:102010	"" []	214352	\N	\N	EFO	1	EFO	Lissencephaly	Other syndrome with lissencephaly as a major feature
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:102010	"" []	568330	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Other syndrome with lissencephaly as a major feature
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:102010	"" []	568331	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Other syndrome with lissencephaly as a major feature
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:102010	"" []	568332	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Other syndrome with lissencephaly as a major feature
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:102010	"" []	1149877	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Other syndrome with lissencephaly as a major feature
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:102010	"" []	1149878	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Other syndrome with lissencephaly as a major feature
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:102010	"" []	1149879	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Other syndrome with lissencephaly as a major feature
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:102010	"" []	2032095	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Other syndrome with lissencephaly as a major feature
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:102010	"" []	2032096	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Other syndrome with lissencephaly as a major feature
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:102010	"" []	2032097	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Other syndrome with lissencephaly as a major feature
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:102010	"" []	2032098	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Other syndrome with lissencephaly as a major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102010	"" []	3182690	\N	\N	EFO	5	EFO	genetic disorder	Other syndrome with lissencephaly as a major feature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102010	"" []	3182691	\N	\N	EFO	5	EFO	genetic disorder	Other syndrome with lissencephaly as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102010	"" []	4390730	\N	\N	EFO	6	EFO	disease	Other syndrome with lissencephaly as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:102010	"" []	5410003	\N	\N	EFO	7	EFO	disposition	Other syndrome with lissencephaly as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:102010	"" []	6147906	\N	\N	EFO	8	EFO	material property	Other syndrome with lissencephaly as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:102010	"" []	6631999	\N	\N	EFO	9	EFO	experimental factor	Other syndrome with lissencephaly as a major feature
Orphanet:102011	\N	\N	"" []	Orphanet:102011	"" []	73234	\N	\N	EFO	0	EFO	Lissencephaly type 3	Lissencephaly type 3
Orphanet:48471	Orphanet:102011	\N	"" []	Orphanet:102011	"" []	214353	\N	\N	EFO	1	EFO	Lissencephaly	Lissencephaly type 3
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:102011	"" []	568333	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Lissencephaly type 3
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:102011	"" []	568334	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly type 3
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:102011	"" []	568335	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly type 3
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:102011	"" []	1149880	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Lissencephaly type 3
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:102011	"" []	1149881	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Lissencephaly type 3
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:102011	"" []	1149882	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Lissencephaly type 3
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:102011	"" []	2032099	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lissencephaly type 3
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:102011	"" []	2032100	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lissencephaly type 3
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:102011	"" []	2032101	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly type 3
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:102011	"" []	2032102	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lissencephaly type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102011	"" []	3182692	\N	\N	EFO	5	EFO	genetic disorder	Lissencephaly type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102011	"" []	3182693	\N	\N	EFO	5	EFO	genetic disorder	Lissencephaly type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102011	"" []	4390731	\N	\N	EFO	6	EFO	disease	Lissencephaly type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:102011	"" []	5410004	\N	\N	EFO	7	EFO	disposition	Lissencephaly type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:102011	"" []	6147907	\N	\N	EFO	8	EFO	material property	Lissencephaly type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:102011	"" []	6632000	\N	\N	EFO	9	EFO	experimental factor	Lissencephaly type 3
Orphanet:102012	\N	\N	"" []	Orphanet:102012	"" []	73235	\N	\N	EFO	0	EFO	Pure hereditary spastic paraplegia	Pure hereditary spastic paraplegia
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:102012	"" []	214354	\N	\N	EFO	1	EFO	Hereditary spastic paraplegia	Pure hereditary spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:102012	"" []	568336	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Pure hereditary spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:102012	"" []	1149883	\N	\N	EFO	3	EFO	neurodegenerative disease	Pure hereditary spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:102012	"" []	1149884	\N	\N	EFO	3	EFO	brain disease	Pure hereditary spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:102012	"" []	1149885	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pure hereditary spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:102012	"" []	2032103	\N	\N	EFO	4	EFO	nervous system disease	Pure hereditary spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:102012	"" []	2032104	\N	\N	EFO	4	EFO	nervous system disease	Pure hereditary spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102012	"" []	2032105	\N	\N	EFO	4	EFO	genetic disorder	Pure hereditary spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102012	"" []	3182694	\N	\N	EFO	5	EFO	disease	Pure hereditary spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102012	"" []	3182695	\N	\N	EFO	5	EFO	disease	Pure hereditary spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:102012	"" []	4390732	\N	\N	EFO	6	EFO	disposition	Pure hereditary spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:102012	"" []	5410005	\N	\N	EFO	7	EFO	material property	Pure hereditary spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:102012	"" []	6147908	\N	\N	EFO	8	EFO	experimental factor	Pure hereditary spastic paraplegia
Orphanet:102013	\N	\N	"" []	Orphanet:102013	"" []	73236	\N	\N	EFO	0	EFO	Complex hereditary spastic paraplegia	Complex hereditary spastic paraplegia
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:102013	"" []	214355	\N	\N	EFO	1	EFO	Hereditary spastic paraplegia	Complex hereditary spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:102013	"" []	568337	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Complex hereditary spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:102013	"" []	1149886	\N	\N	EFO	3	EFO	neurodegenerative disease	Complex hereditary spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:102013	"" []	1149887	\N	\N	EFO	3	EFO	brain disease	Complex hereditary spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:102013	"" []	1149888	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Complex hereditary spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:102013	"" []	2032106	\N	\N	EFO	4	EFO	nervous system disease	Complex hereditary spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:102013	"" []	2032107	\N	\N	EFO	4	EFO	nervous system disease	Complex hereditary spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102013	"" []	2032108	\N	\N	EFO	4	EFO	genetic disorder	Complex hereditary spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102013	"" []	3182696	\N	\N	EFO	5	EFO	disease	Complex hereditary spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102013	"" []	3182697	\N	\N	EFO	5	EFO	disease	Complex hereditary spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:102013	"" []	4390733	\N	\N	EFO	6	EFO	disposition	Complex hereditary spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:102013	"" []	5410006	\N	\N	EFO	7	EFO	material property	Complex hereditary spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:102013	"" []	6147909	\N	\N	EFO	8	EFO	experimental factor	Complex hereditary spastic paraplegia
Orphanet:102014	\N	\N	"" []	Orphanet:102014	"" []	73237	\N	\N	EFO	0	EFO	Autosomal dominant limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy
Orphanet:263	Orphanet:102014	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:102014	"" []	214356	\N	\N	EFO	1	EFO	Limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:102014	"" []	568338	\N	\N	EFO	2	EFO	Progressive muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:102014	"" []	1149889	\N	\N	EFO	3	EFO	Muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:102014	"" []	2032109	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Autosomal dominant limb-girdle muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:102014	"" []	3182698	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal dominant limb-girdle muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:102014	"" []	4390734	\N	\N	EFO	6	EFO	muscular disease	Autosomal dominant limb-girdle muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:102014	"" []	4390735	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant limb-girdle muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:102014	"" []	5410007	\N	\N	EFO	7	EFO	skeletal system disease	Autosomal dominant limb-girdle muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102014	"" []	5410008	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant limb-girdle muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102014	"" []	6147910	\N	\N	EFO	8	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102014	"" []	6147911	\N	\N	EFO	8	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:102014	"" []	6632001	\N	\N	EFO	9	EFO	disposition	Autosomal dominant limb-girdle muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:102014	"" []	6925374	\N	\N	EFO	10	EFO	material property	Autosomal dominant limb-girdle muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:102014	"" []	7099001	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant limb-girdle muscular dystrophy
Orphanet:102015	\N	\N	"" []	Orphanet:102015	"" []	73238	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:102015	"" []	214357	\N	\N	EFO	1	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:102015	"" []	568339	\N	\N	EFO	2	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:102015	"" []	1149890	\N	\N	EFO	3	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:102015	"" []	2032110	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:102015	"" []	3182699	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:102015	"" []	4390736	\N	\N	EFO	6	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:102015	"" []	4390737	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:102015	"" []	5410009	\N	\N	EFO	7	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102015	"" []	5410010	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102015	"" []	6147912	\N	\N	EFO	8	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102015	"" []	6147913	\N	\N	EFO	8	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:102015	"" []	6632002	\N	\N	EFO	9	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:102015	"" []	6925375	\N	\N	EFO	10	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:102015	"" []	7099002	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy
Orphanet:102020	\N	\N	"" []	Orphanet:102020	"" []	73239	\N	\N	EFO	0	EFO	Autosomal monosomy	Autosomal monosomy
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:102020	"" []	214358	\N	\N	EFO	1	EFO	Autosomal anomaly	Autosomal monosomy
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:102020	"" []	568340	\N	\N	EFO	2	EFO	Chromosomal anomaly	Autosomal monosomy
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102020	"" []	1149891	\N	\N	EFO	3	EFO	genetic disorder	Autosomal monosomy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102020	"" []	2032111	\N	\N	EFO	4	EFO	disease	Autosomal monosomy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:102020	"" []	3182700	\N	\N	EFO	5	EFO	disposition	Autosomal monosomy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:102020	"" []	4390738	\N	\N	EFO	6	EFO	material property	Autosomal monosomy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:102020	"" []	5410011	\N	\N	EFO	7	EFO	experimental factor	Autosomal monosomy
Orphanet:1021	\N	\N	"" []	Orphanet:1021	"" []	73240	\N	\N	EFO	0	EFO	Amaurosis - hypertrichosis	Amaurosis - hypertrichosis
Orphanet:71862	Orphanet:1021	\N	"" []	Orphanet:1021	"" []	214359	\N	\N	EFO	1	EFO	Retinal dystrophy	Amaurosis - hypertrichosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1021	"" []	568341	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Amaurosis - hypertrichosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1021	"" []	1149892	\N	\N	EFO	3	EFO	Rare genetic eye disease	Amaurosis - hypertrichosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1021	"" []	2032112	\N	\N	EFO	4	EFO	genetic disorder	Amaurosis - hypertrichosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1021	"" []	2032113	\N	\N	EFO	4	EFO	eye disease	Amaurosis - hypertrichosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1021	"" []	3182701	\N	\N	EFO	5	EFO	disease	Amaurosis - hypertrichosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1021	"" []	3182702	\N	\N	EFO	5	EFO	disease	Amaurosis - hypertrichosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1021	"" []	4390739	\N	\N	EFO	6	EFO	disposition	Amaurosis - hypertrichosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1021	"" []	5410012	\N	\N	EFO	7	EFO	material property	Amaurosis - hypertrichosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1021	"" []	6147914	\N	\N	EFO	8	EFO	experimental factor	Amaurosis - hypertrichosis
Orphanet:102283	\N	\N	"" []	Orphanet:102283	"" []	73241	\N	\N	EFO	0	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:102283	"" []	214360	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:102283	"" []	568342	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102283	"" []	1149893	\N	\N	EFO	3	EFO	genetic disorder	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102283	"" []	2032114	\N	\N	EFO	4	EFO	disease	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:102283	"" []	3182703	\N	\N	EFO	5	EFO	disposition	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:102283	"" []	4390740	\N	\N	EFO	6	EFO	material property	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:102283	"" []	5410013	\N	\N	EFO	7	EFO	experimental factor	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Orphanet:1023	\N	\N	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	73242	\N	\N	EFO	0	EFO	Congenital generalized hypertrichosis, Ambras type	Congenital generalized hypertrichosis, Ambras type
Orphanet:2222	Orphanet:1023	\N	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	214361	\N	\N	EFO	1	EFO	Hypertrichosis lanuginosa congenita	Congenital generalized hypertrichosis, Ambras type
Orphanet:79365	Orphanet:2222	\N	"" []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	568343	\N	\N	EFO	2	EFO	Hypertrichosis	Congenital generalized hypertrichosis, Ambras type
Orphanet:79373	Orphanet:2222	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	568344	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Congenital generalized hypertrichosis, Ambras type
Orphanet:98595	Orphanet:2222	\N	"" []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	568345	\N	\N	EFO	2	EFO	Eyebrow/eyelashes hypertrichosis	Congenital generalized hypertrichosis, Ambras type
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	1149894	\N	\N	EFO	3	EFO	Genetic hair anomaly	Congenital generalized hypertrichosis, Ambras type
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	1149895	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Congenital generalized hypertrichosis, Ambras type
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	1149896	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Congenital generalized hypertrichosis, Ambras type
Orphanet:98594	Orphanet:98595	\N	"" []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	1149897	\N	\N	EFO	3	EFO	Rare eyebrow/eyelashes anomaly	Congenital generalized hypertrichosis, Ambras type
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	2032115	\N	\N	EFO	4	EFO	Genetic epidermal appendage anomaly	Congenital generalized hypertrichosis, Ambras type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	2032116	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital generalized hypertrichosis, Ambras type
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	3182704	\N	\N	EFO	5	EFO	Rare genetic skin disease	Congenital generalized hypertrichosis, Ambras type
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	2032118	\N	\N	EFO	4	EFO	Rare palpebral disease	Congenital generalized hypertrichosis, Ambras type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	3182705	\N	\N	EFO	5	EFO	genetic disorder	Congenital generalized hypertrichosis, Ambras type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	4133194	\N	\N	EFO	6	EFO	genetic disorder	Congenital generalized hypertrichosis, Ambras type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	4133195	\N	\N	EFO	6	EFO	skin disease	Congenital generalized hypertrichosis, Ambras type
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	3182708	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital generalized hypertrichosis, Ambras type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	6147916	\N	\N	EFO	8	EFO	disease	Congenital generalized hypertrichosis, Ambras type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	5181459	\N	\N	EFO	7	EFO	disease	Congenital generalized hypertrichosis, Ambras type
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	4390743	\N	\N	EFO	6	EFO	Rare genetic eye disease	Congenital generalized hypertrichosis, Ambras type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	6469906	\N	\N	EFO	9	EFO	disposition	Congenital generalized hypertrichosis, Ambras type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	5410015	\N	\N	EFO	7	EFO	genetic disorder	Congenital generalized hypertrichosis, Ambras type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	5410016	\N	\N	EFO	7	EFO	eye disease	Congenital generalized hypertrichosis, Ambras type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	6848246	\N	\N	EFO	10	EFO	material property	Congenital generalized hypertrichosis, Ambras type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	6147917	\N	\N	EFO	8	EFO	disease	Congenital generalized hypertrichosis, Ambras type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1023	"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." []	7068375	\N	\N	EFO	11	EFO	experimental factor	Congenital generalized hypertrichosis, Ambras type
Orphanet:102373	\N	\N	"" []	Orphanet:102373	"" []	73243	\N	\N	EFO	0	EFO	Primary glomerular disease	Primary glomerular disease
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:102373	"" []	214362	\N	\N	EFO	1	EFO	Genetic glomerular disease	Primary glomerular disease
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:102373	"" []	568346	\N	\N	EFO	2	EFO	Rare genetic renal disease	Primary glomerular disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:102373	"" []	1149898	\N	\N	EFO	3	EFO	genetic disorder	Primary glomerular disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:102373	"" []	2032119	\N	\N	EFO	4	EFO	disease	Primary glomerular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:102373	"" []	3182709	\N	\N	EFO	5	EFO	disposition	Primary glomerular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:102373	"" []	4390744	\N	\N	EFO	6	EFO	material property	Primary glomerular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:102373	"" []	5410017	\N	\N	EFO	7	EFO	experimental factor	Primary glomerular disease
Orphanet:1027	\N	\N	"" []	Orphanet:1027	"" []	73244	\N	\N	EFO	0	EFO	Autosomal recessive amelia	Autosomal recessive amelia
Orphanet:404574	Orphanet:1027	\N	"" []	Orphanet:1027	"" []	214363	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Autosomal recessive amelia
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:1027	"" []	568347	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Autosomal recessive amelia
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:1027	"" []	568348	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Autosomal recessive amelia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1027	"" []	1149899	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Autosomal recessive amelia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1027	"" []	1149900	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Autosomal recessive amelia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1027	"" []	2032120	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal recessive amelia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1027	"" []	2032121	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal recessive amelia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1027	"" []	2032122	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive amelia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1027	"" []	3182710	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive amelia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1027	"" []	3182711	\N	\N	EFO	5	EFO	bone disease	Autosomal recessive amelia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1027	"" []	3182712	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive amelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1027	"" []	4390747	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive amelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1027	"" []	5181460	\N	\N	EFO	7	EFO	disease	Autosomal recessive amelia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1027	"" []	4390746	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal recessive amelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1027	"" []	5996845	\N	\N	EFO	8	EFO	disposition	Autosomal recessive amelia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1027	"" []	5410019	\N	\N	EFO	7	EFO	disease	Autosomal recessive amelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1027	"" []	6550467	\N	\N	EFO	9	EFO	material property	Autosomal recessive amelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1027	"" []	6889007	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive amelia
Orphanet:1028	\N	\N	"" []	Orphanet:1028	"" []	73245	\N	\N	EFO	0	EFO	Amelo-onycho-hypohidrotic syndrome	Amelo-onycho-hypohidrotic syndrome
Orphanet:79373	Orphanet:1028	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1028	"" []	214364	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Amelo-onycho-hypohidrotic syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1028	"" []	568349	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Amelo-onycho-hypohidrotic syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1028	"" []	568350	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Amelo-onycho-hypohidrotic syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1028	"" []	1149901	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Amelo-onycho-hypohidrotic syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1028	"" []	1149902	\N	\N	EFO	3	EFO	Rare genetic skin disease	Amelo-onycho-hypohidrotic syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1028	"" []	2032123	\N	\N	EFO	4	EFO	genetic disorder	Amelo-onycho-hypohidrotic syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1028	"" []	2032124	\N	\N	EFO	4	EFO	genetic disorder	Amelo-onycho-hypohidrotic syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1028	"" []	2032125	\N	\N	EFO	4	EFO	skin disease	Amelo-onycho-hypohidrotic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1028	"" []	3182714	\N	\N	EFO	5	EFO	disease	Amelo-onycho-hypohidrotic syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1028	"" []	3182715	\N	\N	EFO	5	EFO	disease	Amelo-onycho-hypohidrotic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1028	"" []	4390748	\N	\N	EFO	6	EFO	disposition	Amelo-onycho-hypohidrotic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1028	"" []	5410020	\N	\N	EFO	7	EFO	material property	Amelo-onycho-hypohidrotic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1028	"" []	6147919	\N	\N	EFO	8	EFO	experimental factor	Amelo-onycho-hypohidrotic syndrome
Orphanet:103	\N	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:103	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	73246	\N	\N	EFO	0	EFO	Genetic optic atrophy	Genetic optic atrophy
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:103	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	214365	\N	\N	EFO	1	EFO	Optic neuropathy	Genetic optic atrophy
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:103	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	568351	\N	\N	EFO	2	EFO	Rare genetic eye disease	Genetic optic atrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:103	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	1149903	\N	\N	EFO	3	EFO	genetic disorder	Genetic optic atrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:103	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	1149904	\N	\N	EFO	3	EFO	eye disease	Genetic optic atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	2032126	\N	\N	EFO	4	EFO	disease	Genetic optic atrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	2032127	\N	\N	EFO	4	EFO	disease	Genetic optic atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:103	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	3182716	\N	\N	EFO	5	EFO	disposition	Genetic optic atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:103	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	4390749	\N	\N	EFO	6	EFO	material property	Genetic optic atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:103	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	5410021	\N	\N	EFO	7	EFO	experimental factor	Genetic optic atrophy
Orphanet:1031	\N	\N	"Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." []	Orphanet:1031	"Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." []	73247	\N	\N	EFO	0	EFO	Amelogenesis imperfecta - nephrocalcinosis	Amelogenesis imperfecta - nephrocalcinosis
Orphanet:183580	Orphanet:1031	\N	"" []	Orphanet:1031	"Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." []	214366	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Amelogenesis imperfecta - nephrocalcinosis
Orphanet:93593	Orphanet:1031	\N	"" []	Orphanet:1031	"Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." []	214367	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Amelogenesis imperfecta - nephrocalcinosis
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:1031	"Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." []	568352	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Amelogenesis imperfecta - nephrocalcinosis
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:1031	"Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." []	568353	\N	\N	EFO	2	EFO	Rare genetic renal disease	Amelogenesis imperfecta - nephrocalcinosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1031	"Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." []	1149905	\N	\N	EFO	3	EFO	genetic disorder	Amelogenesis imperfecta - nephrocalcinosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1031	"Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." []	1149906	\N	\N	EFO	3	EFO	genetic disorder	Amelogenesis imperfecta - nephrocalcinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1031	"Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." []	2032128	\N	\N	EFO	4	EFO	disease	Amelogenesis imperfecta - nephrocalcinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1031	"Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." []	3182717	\N	\N	EFO	5	EFO	disposition	Amelogenesis imperfecta - nephrocalcinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1031	"Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." []	4390750	\N	\N	EFO	6	EFO	material property	Amelogenesis imperfecta - nephrocalcinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1031	"Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." []	5410022	\N	\N	EFO	7	EFO	experimental factor	Amelogenesis imperfecta - nephrocalcinosis
Orphanet:1032	\N	\N	"" []	Orphanet:1032	"" []	73248	\N	\N	EFO	0	EFO	Hyperdibasic aminoaciduria type 1	Hyperdibasic aminoaciduria type 1
Orphanet:79166	Orphanet:1032	\N	"" []	Orphanet:1032	"" []	214368	\N	\N	EFO	1	EFO	Disorder of amino acid absorption and transport	Hyperdibasic aminoaciduria type 1
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:1032	"" []	568354	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Hyperdibasic aminoaciduria type 1
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:1032	"" []	1149907	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hyperdibasic aminoaciduria type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1032	"" []	2032129	\N	\N	EFO	4	EFO	genetic disorder	Hyperdibasic aminoaciduria type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1032	"" []	2032130	\N	\N	EFO	4	EFO	metabolic disease	Hyperdibasic aminoaciduria type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1032	"" []	3182718	\N	\N	EFO	5	EFO	disease	Hyperdibasic aminoaciduria type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1032	"" []	3182719	\N	\N	EFO	5	EFO	disease	Hyperdibasic aminoaciduria type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1032	"" []	4390751	\N	\N	EFO	6	EFO	disposition	Hyperdibasic aminoaciduria type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1032	"" []	5410023	\N	\N	EFO	7	EFO	material property	Hyperdibasic aminoaciduria type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1032	"" []	6147920	\N	\N	EFO	8	EFO	experimental factor	Hyperdibasic aminoaciduria type 1
Orphanet:1034	\N	\N	"" []	Orphanet:1034	"" []	73249	\N	\N	EFO	0	EFO	Amniotic bands	Amniotic bands
Orphanet:294929	Orphanet:1034	\N	"" []	Orphanet:1034	"" []	214369	\N	\N	EFO	1	EFO	Terminal limb defects	Amniotic bands
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:1034	"" []	568355	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Amniotic bands
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:1034	"" []	1149908	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Amniotic bands
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:1034	"" []	1149909	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Amniotic bands
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:1034	"" []	2032131	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Amniotic bands
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1034	"" []	2032132	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Amniotic bands
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1034	"" []	3182720	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Amniotic bands
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1034	"" []	3182721	\N	\N	EFO	5	EFO	Rare genetic bone disease	Amniotic bands
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1034	"" []	3182722	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Amniotic bands
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1034	"" []	5410026	\N	\N	EFO	7	EFO	genetic disorder	Amniotic bands
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1034	"" []	4390753	\N	\N	EFO	6	EFO	genetic disorder	Amniotic bands
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1034	"" []	4390754	\N	\N	EFO	6	EFO	bone disease	Amniotic bands
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1034	"" []	4390755	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Amniotic bands
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1034	"" []	5996846	\N	\N	EFO	8	EFO	disease	Amniotic bands
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1034	"" []	5410025	\N	\N	EFO	7	EFO	skeletal system disease	Amniotic bands
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1034	"" []	6550468	\N	\N	EFO	9	EFO	disposition	Amniotic bands
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1034	"" []	6147922	\N	\N	EFO	8	EFO	disease	Amniotic bands
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1034	"" []	6889008	\N	\N	EFO	10	EFO	material property	Amniotic bands
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1034	"" []	7085899	\N	\N	EFO	11	EFO	experimental factor	Amniotic bands
Orphanet:1035	\N	\N	"" []	Orphanet:1035	"" []	73250	\N	\N	EFO	0	EFO	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Orphanet:183500	Orphanet:1035	\N	"" []	Orphanet:1035	"" []	214370	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1035	"" []	568356	\N	\N	EFO	2	EFO	neurodegenerative disease	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1035	"" []	568357	\N	\N	EFO	2	EFO	brain disease	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1035	"" []	568358	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1035	"" []	1149910	\N	\N	EFO	3	EFO	nervous system disease	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1035	"" []	1149911	\N	\N	EFO	3	EFO	nervous system disease	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1035	"" []	1149912	\N	\N	EFO	3	EFO	genetic disorder	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1035	"" []	2032133	\N	\N	EFO	4	EFO	disease	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1035	"" []	2032134	\N	\N	EFO	4	EFO	disease	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1035	"" []	3182723	\N	\N	EFO	5	EFO	disposition	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1035	"" []	4390756	\N	\N	EFO	6	EFO	material property	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1035	"" []	5410027	\N	\N	EFO	7	EFO	experimental factor	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Orphanet:1037	\N	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:1037	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	73251	\N	\N	EFO	0	EFO	Arthrogryposis multiplex congenita	Arthrogryposis multiplex congenita
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:1037	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	214371	\N	\N	EFO	1	EFO	Arthrogryposis syndrome	Arthrogryposis multiplex congenita
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1037	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	568359	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Arthrogryposis multiplex congenita
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1037	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	1149913	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Arthrogryposis multiplex congenita
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1037	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	2032135	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Arthrogryposis multiplex congenita
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1037	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	3182724	\N	\N	EFO	5	EFO	genetic disorder	Arthrogryposis multiplex congenita
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1037	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	4390757	\N	\N	EFO	6	EFO	disease	Arthrogryposis multiplex congenita
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1037	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	5410028	\N	\N	EFO	7	EFO	disposition	Arthrogryposis multiplex congenita
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1037	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	6147923	\N	\N	EFO	8	EFO	material property	Arthrogryposis multiplex congenita
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1037	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	6632006	\N	\N	EFO	9	EFO	experimental factor	Arthrogryposis multiplex congenita
Orphanet:103907	\N	\N	"" []	Orphanet:103907	"" []	73252	\N	\N	EFO	0	EFO	Chronic diarrhea due to glucoamylase deficiency	Chronic diarrhea due to glucoamylase deficiency
Orphanet:104006	Orphanet:103907	\N	"" []	Orphanet:103907	"" []	214372	\N	\N	EFO	1	EFO	Congenital intestinal disease due to an enzymatic defect	Chronic diarrhea due to glucoamylase deficiency
Orphanet:309001	Orphanet:103907	\N	"" []	Orphanet:103907	"" []	214373	\N	\N	EFO	1	EFO	Disorder of carbohydrate absorption and transport	Chronic diarrhea due to glucoamylase deficiency
Orphanet:165655	Orphanet:104006	\N	"" []	Orphanet:103907	"" []	568360	\N	\N	EFO	2	EFO	Genetic intestinal disease	Chronic diarrhea due to glucoamylase deficiency
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:103907	"" []	568361	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Chronic diarrhea due to glucoamylase deficiency
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:103907	"" []	1149914	\N	\N	EFO	3	EFO	digestive system disease	Chronic diarrhea due to glucoamylase deficiency
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:103907	"" []	1149915	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Chronic diarrhea due to glucoamylase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:103907	"" []	1149916	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Chronic diarrhea due to glucoamylase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103907	"" []	2032136	\N	\N	EFO	4	EFO	disease	Chronic diarrhea due to glucoamylase deficiency
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:103907	"" []	2032137	\N	\N	EFO	4	EFO	genetic disorder	Chronic diarrhea due to glucoamylase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:103907	"" []	2032138	\N	\N	EFO	4	EFO	genetic disorder	Chronic diarrhea due to glucoamylase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:103907	"" []	2032139	\N	\N	EFO	4	EFO	metabolic disease	Chronic diarrhea due to glucoamylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:103907	"" []	4390759	\N	\N	EFO	6	EFO	disposition	Chronic diarrhea due to glucoamylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103907	"" []	3182726	\N	\N	EFO	5	EFO	disease	Chronic diarrhea due to glucoamylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103907	"" []	3182727	\N	\N	EFO	5	EFO	disease	Chronic diarrhea due to glucoamylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:103907	"" []	5181461	\N	\N	EFO	7	EFO	material property	Chronic diarrhea due to glucoamylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:103907	"" []	5996847	\N	\N	EFO	8	EFO	experimental factor	Chronic diarrhea due to glucoamylase deficiency
Orphanet:103908	\N	\N	"" []	Orphanet:103908	"" []	73253	\N	\N	EFO	0	EFO	Congenital sodium diarrhea	Congenital sodium diarrhea
Orphanet:104003	Orphanet:103908	\N	"" []	Orphanet:103908	"" []	214374	\N	\N	EFO	1	EFO	Congenital intestinal transport defect	Congenital sodium diarrhea
Orphanet:165655	Orphanet:104003	\N	"" []	Orphanet:103908	"" []	568362	\N	\N	EFO	2	EFO	Genetic intestinal disease	Congenital sodium diarrhea
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:103908	"" []	1149917	\N	\N	EFO	3	EFO	digestive system disease	Congenital sodium diarrhea
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:103908	"" []	1149918	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Congenital sodium diarrhea
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103908	"" []	2032140	\N	\N	EFO	4	EFO	disease	Congenital sodium diarrhea
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:103908	"" []	2032141	\N	\N	EFO	4	EFO	genetic disorder	Congenital sodium diarrhea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:103908	"" []	4390761	\N	\N	EFO	6	EFO	disposition	Congenital sodium diarrhea
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103908	"" []	3182729	\N	\N	EFO	5	EFO	disease	Congenital sodium diarrhea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:103908	"" []	5181462	\N	\N	EFO	7	EFO	material property	Congenital sodium diarrhea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:103908	"" []	5996848	\N	\N	EFO	8	EFO	experimental factor	Congenital sodium diarrhea
Orphanet:103909	\N	\N	"" []	Orphanet:103909	"" []	73254	\N	\N	EFO	0	EFO	Diarrhea-vomiting due to trehalase deficiency	Diarrhea-vomiting due to trehalase deficiency
Orphanet:104006	Orphanet:103909	\N	"" []	Orphanet:103909	"" []	214375	\N	\N	EFO	1	EFO	Congenital intestinal disease due to an enzymatic defect	Diarrhea-vomiting due to trehalase deficiency
Orphanet:309001	Orphanet:103909	\N	"" []	Orphanet:103909	"" []	214376	\N	\N	EFO	1	EFO	Disorder of carbohydrate absorption and transport	Diarrhea-vomiting due to trehalase deficiency
Orphanet:165655	Orphanet:104006	\N	"" []	Orphanet:103909	"" []	568363	\N	\N	EFO	2	EFO	Genetic intestinal disease	Diarrhea-vomiting due to trehalase deficiency
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:103909	"" []	568364	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Diarrhea-vomiting due to trehalase deficiency
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:103909	"" []	1149919	\N	\N	EFO	3	EFO	digestive system disease	Diarrhea-vomiting due to trehalase deficiency
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:103909	"" []	1149920	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Diarrhea-vomiting due to trehalase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:103909	"" []	1149921	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Diarrhea-vomiting due to trehalase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103909	"" []	2032142	\N	\N	EFO	4	EFO	disease	Diarrhea-vomiting due to trehalase deficiency
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:103909	"" []	2032143	\N	\N	EFO	4	EFO	genetic disorder	Diarrhea-vomiting due to trehalase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:103909	"" []	2032144	\N	\N	EFO	4	EFO	genetic disorder	Diarrhea-vomiting due to trehalase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:103909	"" []	2032145	\N	\N	EFO	4	EFO	metabolic disease	Diarrhea-vomiting due to trehalase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:103909	"" []	4390763	\N	\N	EFO	6	EFO	disposition	Diarrhea-vomiting due to trehalase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103909	"" []	3182731	\N	\N	EFO	5	EFO	disease	Diarrhea-vomiting due to trehalase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103909	"" []	3182732	\N	\N	EFO	5	EFO	disease	Diarrhea-vomiting due to trehalase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:103909	"" []	5181463	\N	\N	EFO	7	EFO	material property	Diarrhea-vomiting due to trehalase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:103909	"" []	5996849	\N	\N	EFO	8	EFO	experimental factor	Diarrhea-vomiting due to trehalase deficiency
Orphanet:103910	\N	\N	"" []	Orphanet:103910	"" []	73255	\N	\N	EFO	0	EFO	Congenital enterocyte heparan sulfate deficiency	Congenital enterocyte heparan sulfate deficiency
Orphanet:104007	Orphanet:103910	\N	"" []	Orphanet:103910	"" []	214377	\N	\N	EFO	1	EFO	Congenital enteropathy involving intestinal mucosa development	Congenital enterocyte heparan sulfate deficiency
Orphanet:165655	Orphanet:104007	\N	"" []	Orphanet:103910	"" []	568365	\N	\N	EFO	2	EFO	Genetic intestinal disease	Congenital enterocyte heparan sulfate deficiency
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:103910	"" []	1149922	\N	\N	EFO	3	EFO	digestive system disease	Congenital enterocyte heparan sulfate deficiency
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:103910	"" []	1149923	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Congenital enterocyte heparan sulfate deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103910	"" []	2032146	\N	\N	EFO	4	EFO	disease	Congenital enterocyte heparan sulfate deficiency
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:103910	"" []	2032147	\N	\N	EFO	4	EFO	genetic disorder	Congenital enterocyte heparan sulfate deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:103910	"" []	4390765	\N	\N	EFO	6	EFO	disposition	Congenital enterocyte heparan sulfate deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103910	"" []	3182734	\N	\N	EFO	5	EFO	disease	Congenital enterocyte heparan sulfate deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:103910	"" []	5181464	\N	\N	EFO	7	EFO	material property	Congenital enterocyte heparan sulfate deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:103910	"" []	5996850	\N	\N	EFO	8	EFO	experimental factor	Congenital enterocyte heparan sulfate deficiency
Orphanet:103912	\N	\N	"" []	Orphanet:103912	"" []	73256	\N	\N	EFO	0	EFO	Epithelio-exfoliative colitis - deafness	Epithelio-exfoliative colitis - deafness
Orphanet:104007	Orphanet:103912	\N	"" []	Orphanet:103912	"" []	214378	\N	\N	EFO	1	EFO	Congenital enteropathy involving intestinal mucosa development	Epithelio-exfoliative colitis - deafness
Orphanet:165655	Orphanet:104007	\N	"" []	Orphanet:103912	"" []	568366	\N	\N	EFO	2	EFO	Genetic intestinal disease	Epithelio-exfoliative colitis - deafness
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:103912	"" []	1149924	\N	\N	EFO	3	EFO	digestive system disease	Epithelio-exfoliative colitis - deafness
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:103912	"" []	1149925	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Epithelio-exfoliative colitis - deafness
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103912	"" []	2032148	\N	\N	EFO	4	EFO	disease	Epithelio-exfoliative colitis - deafness
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:103912	"" []	2032149	\N	\N	EFO	4	EFO	genetic disorder	Epithelio-exfoliative colitis - deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:103912	"" []	4390767	\N	\N	EFO	6	EFO	disposition	Epithelio-exfoliative colitis - deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:103912	"" []	3182736	\N	\N	EFO	5	EFO	disease	Epithelio-exfoliative colitis - deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:103912	"" []	5181465	\N	\N	EFO	7	EFO	material property	Epithelio-exfoliative colitis - deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:103912	"" []	5996851	\N	\N	EFO	8	EFO	experimental factor	Epithelio-exfoliative colitis - deafness
Orphanet:104	\N	\N	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	73257	\N	\N	EFO	0	EFO	Leber hereditary optic neuropathy	Leber hereditary optic neuropathy
Orphanet:217587	Orphanet:104	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	214379	\N	\N	EFO	1	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	Leber hereditary optic neuropathy
Orphanet:217613	Orphanet:104	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	214380	\N	\N	EFO	1	EFO	Mitochondrial disease with dilated cardiomyopathy	Leber hereditary optic neuropathy
Orphanet:254776	Orphanet:104	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	214381	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Leber hereditary optic neuropathy
Orphanet:98671	Orphanet:104	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	214382	\N	\N	EFO	1	EFO	Optic neuropathy	Leber hereditary optic neuropathy
Orphanet:98695	Orphanet:104	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	214383	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	Leber hereditary optic neuropathy
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	568367	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Leber hereditary optic neuropathy
Orphanet:217607	Orphanet:217613	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	568368	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Leber hereditary optic neuropathy
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	568369	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Leber hereditary optic neuropathy
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	568370	\N	\N	EFO	2	EFO	Rare genetic eye disease	Leber hereditary optic neuropathy
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	568371	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Leber hereditary optic neuropathy
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	1149926	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Leber hereditary optic neuropathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	1149927	\N	\N	EFO	3	EFO	cardiomyopathy	Leber hereditary optic neuropathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	1149928	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Leber hereditary optic neuropathy
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	1149929	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Leber hereditary optic neuropathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	2032156	\N	\N	EFO	4	EFO	genetic disorder	Leber hereditary optic neuropathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	2032157	\N	\N	EFO	4	EFO	eye disease	Leber hereditary optic neuropathy
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	1149932	\N	\N	EFO	3	EFO	Rare genetic eye disease	Leber hereditary optic neuropathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	2032150	\N	\N	EFO	4	EFO	genetic disorder	Leber hereditary optic neuropathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	2032151	\N	\N	EFO	4	EFO	heart disease	Leber hereditary optic neuropathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	2032152	\N	\N	EFO	4	EFO	heart disease	Leber hereditary optic neuropathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	2032153	\N	\N	EFO	4	EFO	Mitochondrial disease	Leber hereditary optic neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	6147924	\N	\N	EFO	8	EFO	disease	Leber hereditary optic neuropathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	3000105	\N	\N	EFO	5	EFO	disease	Leber hereditary optic neuropathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	3182737	\N	\N	EFO	5	EFO	cardiovascular disease	Leber hereditary optic neuropathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	3182738	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Leber hereditary optic neuropathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	3182739	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Leber hereditary optic neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	6378799	\N	\N	EFO	9	EFO	disposition	Leber hereditary optic neuropathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	4390768	\N	\N	EFO	6	EFO	disease	Leber hereditary optic neuropathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	4390769	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Leber hereditary optic neuropathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	4390770	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Leber hereditary optic neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	6778589	\N	\N	EFO	10	EFO	material property	Leber hereditary optic neuropathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	5410035	\N	\N	EFO	7	EFO	genetic disorder	Leber hereditary optic neuropathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	5410036	\N	\N	EFO	7	EFO	genetic disorder	Leber hereditary optic neuropathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	5410037	\N	\N	EFO	7	EFO	metabolic disease	Leber hereditary optic neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	7029806	\N	\N	EFO	11	EFO	experimental factor	Leber hereditary optic neuropathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104	"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." []	6147925	\N	\N	EFO	8	EFO	disease	Leber hereditary optic neuropathy
Orphanet:1040	\N	\N	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	73258	\N	\N	EFO	0	EFO	Metaphyseal anadysplasia	Metaphyseal anadysplasia
Orphanet:93430	Orphanet:1040	\N	"" []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	214384	\N	\N	EFO	1	EFO	Multiple metaphyseal dysplasia	Metaphyseal anadysplasia
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	568372	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metaphyseal anadysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	1149933	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metaphyseal anadysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	1149934	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metaphyseal anadysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	2032158	\N	\N	EFO	4	EFO	genetic disorder	Metaphyseal anadysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	2032159	\N	\N	EFO	4	EFO	bone disease	Metaphyseal anadysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	2032160	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metaphyseal anadysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	4390774	\N	\N	EFO	6	EFO	disease	Metaphyseal anadysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	3182742	\N	\N	EFO	5	EFO	skeletal system disease	Metaphyseal anadysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	3182743	\N	\N	EFO	5	EFO	genetic disorder	Metaphyseal anadysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	5181467	\N	\N	EFO	7	EFO	disposition	Metaphyseal anadysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	4390773	\N	\N	EFO	6	EFO	disease	Metaphyseal anadysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	5996853	\N	\N	EFO	8	EFO	material property	Metaphyseal anadysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1040	"Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." []	6550469	\N	\N	EFO	9	EFO	experimental factor	Metaphyseal anadysplasia
Orphanet:104003	\N	\N	"" []	Orphanet:104003	"" []	73259	\N	\N	EFO	0	EFO	Congenital intestinal transport defect	Congenital intestinal transport defect
Orphanet:165655	Orphanet:104003	\N	"" []	Orphanet:104003	"" []	214385	\N	\N	EFO	1	EFO	Genetic intestinal disease	Congenital intestinal transport defect
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:104003	"" []	568373	\N	\N	EFO	2	EFO	digestive system disease	Congenital intestinal transport defect
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:104003	"" []	568374	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Congenital intestinal transport defect
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104003	"" []	1149935	\N	\N	EFO	3	EFO	disease	Congenital intestinal transport defect
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:104003	"" []	1149936	\N	\N	EFO	3	EFO	genetic disorder	Congenital intestinal transport defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:104003	"" []	3182745	\N	\N	EFO	5	EFO	disposition	Congenital intestinal transport defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104003	"" []	2032162	\N	\N	EFO	4	EFO	disease	Congenital intestinal transport defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:104003	"" []	4133197	\N	\N	EFO	6	EFO	material property	Congenital intestinal transport defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:104003	"" []	5181468	\N	\N	EFO	7	EFO	experimental factor	Congenital intestinal transport defect
Orphanet:104004	\N	\N	"" []	Orphanet:104004	"" []	73260	\N	\N	EFO	0	EFO	Intestinal disease due to vitamin absorption anomaly	Intestinal disease due to vitamin absorption anomaly
Orphanet:165655	Orphanet:104004	\N	"" []	Orphanet:104004	"" []	214386	\N	\N	EFO	1	EFO	Genetic intestinal disease	Intestinal disease due to vitamin absorption anomaly
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:104004	"" []	568375	\N	\N	EFO	2	EFO	digestive system disease	Intestinal disease due to vitamin absorption anomaly
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:104004	"" []	568376	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Intestinal disease due to vitamin absorption anomaly
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104004	"" []	1149937	\N	\N	EFO	3	EFO	disease	Intestinal disease due to vitamin absorption anomaly
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:104004	"" []	1149938	\N	\N	EFO	3	EFO	genetic disorder	Intestinal disease due to vitamin absorption anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:104004	"" []	3182747	\N	\N	EFO	5	EFO	disposition	Intestinal disease due to vitamin absorption anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104004	"" []	2032164	\N	\N	EFO	4	EFO	disease	Intestinal disease due to vitamin absorption anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:104004	"" []	4133198	\N	\N	EFO	6	EFO	material property	Intestinal disease due to vitamin absorption anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:104004	"" []	5181469	\N	\N	EFO	7	EFO	experimental factor	Intestinal disease due to vitamin absorption anomaly
Orphanet:104006	\N	\N	"" []	Orphanet:104006	"" []	73261	\N	\N	EFO	0	EFO	Congenital intestinal disease due to an enzymatic defect	Congenital intestinal disease due to an enzymatic defect
Orphanet:165655	Orphanet:104006	\N	"" []	Orphanet:104006	"" []	214387	\N	\N	EFO	1	EFO	Genetic intestinal disease	Congenital intestinal disease due to an enzymatic defect
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:104006	"" []	568377	\N	\N	EFO	2	EFO	digestive system disease	Congenital intestinal disease due to an enzymatic defect
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:104006	"" []	568378	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Congenital intestinal disease due to an enzymatic defect
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104006	"" []	1149939	\N	\N	EFO	3	EFO	disease	Congenital intestinal disease due to an enzymatic defect
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:104006	"" []	1149940	\N	\N	EFO	3	EFO	genetic disorder	Congenital intestinal disease due to an enzymatic defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:104006	"" []	3182749	\N	\N	EFO	5	EFO	disposition	Congenital intestinal disease due to an enzymatic defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104006	"" []	2032166	\N	\N	EFO	4	EFO	disease	Congenital intestinal disease due to an enzymatic defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:104006	"" []	4133199	\N	\N	EFO	6	EFO	material property	Congenital intestinal disease due to an enzymatic defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:104006	"" []	5181470	\N	\N	EFO	7	EFO	experimental factor	Congenital intestinal disease due to an enzymatic defect
Orphanet:104007	\N	\N	"" []	Orphanet:104007	"" []	73262	\N	\N	EFO	0	EFO	Congenital enteropathy involving intestinal mucosa development	Congenital enteropathy involving intestinal mucosa development
Orphanet:165655	Orphanet:104007	\N	"" []	Orphanet:104007	"" []	214388	\N	\N	EFO	1	EFO	Genetic intestinal disease	Congenital enteropathy involving intestinal mucosa development
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:104007	"" []	568379	\N	\N	EFO	2	EFO	digestive system disease	Congenital enteropathy involving intestinal mucosa development
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:104007	"" []	568380	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Congenital enteropathy involving intestinal mucosa development
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104007	"" []	1149941	\N	\N	EFO	3	EFO	disease	Congenital enteropathy involving intestinal mucosa development
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:104007	"" []	1149942	\N	\N	EFO	3	EFO	genetic disorder	Congenital enteropathy involving intestinal mucosa development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:104007	"" []	3182751	\N	\N	EFO	5	EFO	disposition	Congenital enteropathy involving intestinal mucosa development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104007	"" []	2032168	\N	\N	EFO	4	EFO	disease	Congenital enteropathy involving intestinal mucosa development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:104007	"" []	4133200	\N	\N	EFO	6	EFO	material property	Congenital enteropathy involving intestinal mucosa development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:104007	"" []	5181471	\N	\N	EFO	7	EFO	experimental factor	Congenital enteropathy involving intestinal mucosa development
Orphanet:104009	\N	\N	"" []	Orphanet:104009	"" []	73263	\N	\N	EFO	0	EFO	Congenital intestinal motility disorder	Congenital intestinal motility disorder
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:104009	"" []	214389	\N	\N	EFO	1	EFO	Genetic intestinal disease	Congenital intestinal motility disorder
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:104009	"" []	568381	\N	\N	EFO	2	EFO	digestive system disease	Congenital intestinal motility disorder
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:104009	"" []	568382	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Congenital intestinal motility disorder
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104009	"" []	1149943	\N	\N	EFO	3	EFO	disease	Congenital intestinal motility disorder
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:104009	"" []	1149944	\N	\N	EFO	3	EFO	genetic disorder	Congenital intestinal motility disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:104009	"" []	3182753	\N	\N	EFO	5	EFO	disposition	Congenital intestinal motility disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104009	"" []	2032170	\N	\N	EFO	4	EFO	disease	Congenital intestinal motility disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:104009	"" []	4133201	\N	\N	EFO	6	EFO	material property	Congenital intestinal motility disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:104009	"" []	5181472	\N	\N	EFO	7	EFO	experimental factor	Congenital intestinal motility disorder
Orphanet:104013	\N	\N	"" []	Orphanet:104013	"" []	73264	\N	\N	EFO	0	EFO	Metabolic disease with intestinal involvement	Metabolic disease with intestinal involvement
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:104013	"" []	214390	\N	\N	EFO	1	EFO	Genetic intestinal disease	Metabolic disease with intestinal involvement
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:104013	"" []	568383	\N	\N	EFO	2	EFO	digestive system disease	Metabolic disease with intestinal involvement
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:104013	"" []	568384	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Metabolic disease with intestinal involvement
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104013	"" []	1149945	\N	\N	EFO	3	EFO	disease	Metabolic disease with intestinal involvement
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:104013	"" []	1149946	\N	\N	EFO	3	EFO	genetic disorder	Metabolic disease with intestinal involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:104013	"" []	3182755	\N	\N	EFO	5	EFO	disposition	Metabolic disease with intestinal involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104013	"" []	2032172	\N	\N	EFO	4	EFO	disease	Metabolic disease with intestinal involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:104013	"" []	4133202	\N	\N	EFO	6	EFO	material property	Metabolic disease with intestinal involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:104013	"" []	5181473	\N	\N	EFO	7	EFO	experimental factor	Metabolic disease with intestinal involvement
Orphanet:104077	\N	\N	"" []	Orphanet:104077	"" []	73265	\N	\N	EFO	0	EFO	Myopathic intestinal pseudoobstruction	Myopathic intestinal pseudoobstruction
Orphanet:2978	Orphanet:104077	\N	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	Orphanet:104077	"" []	214391	\N	\N	EFO	1	EFO	Chronic intestinal pseudoobstruction	Myopathic intestinal pseudoobstruction
Orphanet:104009	Orphanet:2978	\N	"" []	Orphanet:104077	"" []	568385	\N	\N	EFO	2	EFO	Congenital intestinal motility disorder	Myopathic intestinal pseudoobstruction
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:104077	"" []	1149947	\N	\N	EFO	3	EFO	Genetic intestinal disease	Myopathic intestinal pseudoobstruction
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:104077	"" []	2032173	\N	\N	EFO	4	EFO	digestive system disease	Myopathic intestinal pseudoobstruction
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:104077	"" []	2032174	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Myopathic intestinal pseudoobstruction
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104077	"" []	3182756	\N	\N	EFO	5	EFO	disease	Myopathic intestinal pseudoobstruction
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:104077	"" []	3182757	\N	\N	EFO	5	EFO	genetic disorder	Myopathic intestinal pseudoobstruction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:104077	"" []	5410041	\N	\N	EFO	7	EFO	disposition	Myopathic intestinal pseudoobstruction
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104077	"" []	4390782	\N	\N	EFO	6	EFO	disease	Myopathic intestinal pseudoobstruction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:104077	"" []	5996854	\N	\N	EFO	8	EFO	material property	Myopathic intestinal pseudoobstruction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:104077	"" []	6550470	\N	\N	EFO	9	EFO	experimental factor	Myopathic intestinal pseudoobstruction
Orphanet:104078	\N	\N	"" []	Orphanet:104078	"" []	73266	\N	\N	EFO	0	EFO	Unclassified intestinal pseudoobstruction	Unclassified intestinal pseudoobstruction
Orphanet:2978	Orphanet:104078	\N	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	Orphanet:104078	"" []	214392	\N	\N	EFO	1	EFO	Chronic intestinal pseudoobstruction	Unclassified intestinal pseudoobstruction
Orphanet:104009	Orphanet:2978	\N	"" []	Orphanet:104078	"" []	568386	\N	\N	EFO	2	EFO	Congenital intestinal motility disorder	Unclassified intestinal pseudoobstruction
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:104078	"" []	1149948	\N	\N	EFO	3	EFO	Genetic intestinal disease	Unclassified intestinal pseudoobstruction
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:104078	"" []	2032175	\N	\N	EFO	4	EFO	digestive system disease	Unclassified intestinal pseudoobstruction
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:104078	"" []	2032176	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Unclassified intestinal pseudoobstruction
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104078	"" []	3182758	\N	\N	EFO	5	EFO	disease	Unclassified intestinal pseudoobstruction
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:104078	"" []	3182759	\N	\N	EFO	5	EFO	genetic disorder	Unclassified intestinal pseudoobstruction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:104078	"" []	5410043	\N	\N	EFO	7	EFO	disposition	Unclassified intestinal pseudoobstruction
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:104078	"" []	4390784	\N	\N	EFO	6	EFO	disease	Unclassified intestinal pseudoobstruction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:104078	"" []	5996855	\N	\N	EFO	8	EFO	material property	Unclassified intestinal pseudoobstruction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:104078	"" []	6550471	\N	\N	EFO	9	EFO	experimental factor	Unclassified intestinal pseudoobstruction
Orphanet:1044	\N	\N	"" []	Orphanet:1044	"" []	73267	\N	\N	EFO	0	EFO	Anemia due to adenosine triphosphatase deficiency	Anemia due to adenosine triphosphatase deficiency
Orphanet:79191	Orphanet:1044	\N	"" []	Orphanet:1044	"" []	214393	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Anemia due to adenosine triphosphatase deficiency
Orphanet:98374	Orphanet:1044	\N	"" []	Orphanet:1044	"" []	214394	\N	\N	EFO	1	EFO	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder	Anemia due to adenosine triphosphatase deficiency
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:1044	"" []	568387	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Anemia due to adenosine triphosphatase deficiency
Orphanet:98369	Orphanet:98374	\N	"" []	Orphanet:1044	"" []	568388	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Anemia due to adenosine triphosphatase deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:1044	"" []	1149949	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Anemia due to adenosine triphosphatase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:1044	"" []	1149950	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Anemia due to adenosine triphosphatase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1044	"" []	2032177	\N	\N	EFO	4	EFO	genetic disorder	Anemia due to adenosine triphosphatase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1044	"" []	2032178	\N	\N	EFO	4	EFO	metabolic disease	Anemia due to adenosine triphosphatase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:1044	"" []	2032179	\N	\N	EFO	4	EFO	Rare constitutional anemia	Anemia due to adenosine triphosphatase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1044	"" []	5410045	\N	\N	EFO	7	EFO	disease	Anemia due to adenosine triphosphatase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1044	"" []	3182761	\N	\N	EFO	5	EFO	disease	Anemia due to adenosine triphosphatase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:1044	"" []	3182762	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Anemia due to adenosine triphosphatase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1044	"" []	5876694	\N	\N	EFO	8	EFO	disposition	Anemia due to adenosine triphosphatase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1044	"" []	4390786	\N	\N	EFO	6	EFO	genetic disorder	Anemia due to adenosine triphosphatase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:1044	"" []	4390787	\N	\N	EFO	6	EFO	hematological system disease	Anemia due to adenosine triphosphatase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1044	"" []	6469908	\N	\N	EFO	9	EFO	material property	Anemia due to adenosine triphosphatase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1044	"" []	5410046	\N	\N	EFO	7	EFO	disease	Anemia due to adenosine triphosphatase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1044	"" []	6848247	\N	\N	EFO	10	EFO	experimental factor	Anemia due to adenosine triphosphatase deficiency
Orphanet:1046	\N	\N	"" []	Orphanet:1046	"" []	73268	\N	\N	EFO	0	EFO	Lethal hemolytic anemia - genital anomalies	Lethal hemolytic anemia - genital anomalies
Orphanet:165707	Orphanet:1046	\N	"" []	Orphanet:1046	"" []	214395	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Lethal hemolytic anemia - genital anomalies
Orphanet:182043	Orphanet:1046	\N	"" []	Orphanet:1046	"" []	214396	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia	Lethal hemolytic anemia - genital anomalies
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:1046	"" []	568389	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Lethal hemolytic anemia - genital anomalies
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:1046	"" []	568390	\N	\N	EFO	2	EFO	Rare constitutional anemia	Lethal hemolytic anemia - genital anomalies
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:1046	"" []	1149951	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Lethal hemolytic anemia - genital anomalies
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:1046	"" []	1149952	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Lethal hemolytic anemia - genital anomalies
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1046	"" []	2032180	\N	\N	EFO	4	EFO	genetic disorder	Lethal hemolytic anemia - genital anomalies
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1046	"" []	2032181	\N	\N	EFO	4	EFO	genetic disorder	Lethal hemolytic anemia - genital anomalies
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:1046	"" []	2032182	\N	\N	EFO	4	EFO	hematological system disease	Lethal hemolytic anemia - genital anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1046	"" []	3182763	\N	\N	EFO	5	EFO	disease	Lethal hemolytic anemia - genital anomalies
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1046	"" []	3182764	\N	\N	EFO	5	EFO	disease	Lethal hemolytic anemia - genital anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1046	"" []	4390788	\N	\N	EFO	6	EFO	disposition	Lethal hemolytic anemia - genital anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1046	"" []	5410047	\N	\N	EFO	7	EFO	material property	Lethal hemolytic anemia - genital anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1046	"" []	6147930	\N	\N	EFO	8	EFO	experimental factor	Lethal hemolytic anemia - genital anomalies
Orphanet:1048	\N	\N	"" []	Orphanet:1048	"" []	73269	\N	\N	EFO	0	EFO	Isolated anencephaly/exencephaly	Isolated anencephaly/exencephaly
Orphanet:102283	Orphanet:1048	\N	"" []	Orphanet:1048	"" []	214397	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Isolated anencephaly/exencephaly
Orphanet:183763	Orphanet:1048	\N	"" []	Orphanet:1048	"" []	214398	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Isolated anencephaly/exencephaly
Orphanet:268357	Orphanet:1048	\N	"" []	Orphanet:1048	"" []	214399	\N	\N	EFO	1	EFO	Neural tube closure defect	Isolated anencephaly/exencephaly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1048	"" []	568391	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Isolated anencephaly/exencephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1048	"" []	568392	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Isolated anencephaly/exencephaly
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:1048	"" []	568393	\N	\N	EFO	2	EFO	Neural tube defect	Isolated anencephaly/exencephaly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1048	"" []	1149953	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Isolated anencephaly/exencephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1048	"" []	1149954	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Isolated anencephaly/exencephaly
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:1048	"" []	1149955	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Isolated anencephaly/exencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1048	"" []	4390790	\N	\N	EFO	6	EFO	genetic disorder	Isolated anencephaly/exencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1048	"" []	4390791	\N	\N	EFO	6	EFO	genetic disorder	Isolated anencephaly/exencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:1048	"" []	2032185	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Isolated anencephaly/exencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1048	"" []	5059540	\N	\N	EFO	7	EFO	disease	Isolated anencephaly/exencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1048	"" []	3182766	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated anencephaly/exencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1048	"" []	3182767	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Isolated anencephaly/exencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1048	"" []	5876695	\N	\N	EFO	8	EFO	disposition	Isolated anencephaly/exencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1048	"" []	6469909	\N	\N	EFO	9	EFO	material property	Isolated anencephaly/exencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1048	"" []	6848248	\N	\N	EFO	10	EFO	experimental factor	Isolated anencephaly/exencephaly
Orphanet:105	\N	\N	"" []	Orphanet:105	"" []	73270	\N	\N	EFO	0	EFO	Atresia of urethra	Atresia of urethra
Orphanet:357506	Orphanet:105	\N	"" []	Orphanet:105	"" []	214400	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Atresia of urethra
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:105	"" []	568394	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Atresia of urethra
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:105	"" []	1149956	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Atresia of urethra
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:105	"" []	1149957	\N	\N	EFO	3	EFO	Rare genetic renal disease	Atresia of urethra
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:105	"" []	2032186	\N	\N	EFO	4	EFO	genetic disorder	Atresia of urethra
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:105	"" []	2032187	\N	\N	EFO	4	EFO	genetic disorder	Atresia of urethra
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:105	"" []	3182768	\N	\N	EFO	5	EFO	disease	Atresia of urethra
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:105	"" []	4390792	\N	\N	EFO	6	EFO	disposition	Atresia of urethra
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:105	"" []	5410049	\N	\N	EFO	7	EFO	material property	Atresia of urethra
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:105	"" []	6147932	\N	\N	EFO	8	EFO	experimental factor	Atresia of urethra
Orphanet:1051	\N	\N	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	73271	\N	\N	EFO	0	EFO	Ramos-Arroyo syndrome	Ramos-Arroyo syndrome
Orphanet:102283	Orphanet:1051	\N	"" []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	214401	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Ramos-Arroyo syndrome
Orphanet:183763	Orphanet:1051	\N	"" []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	214402	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Ramos-Arroyo syndrome
Orphanet:90642	Orphanet:1051	\N	"" []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	214403	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Ramos-Arroyo syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	568395	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ramos-Arroyo syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	568396	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Ramos-Arroyo syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	568397	\N	\N	EFO	2	EFO	Rare genetic deafness	Ramos-Arroyo syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	1149958	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ramos-Arroyo syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	1149959	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ramos-Arroyo syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	1149960	\N	\N	EFO	3	EFO	genetic disorder	Ramos-Arroyo syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	1149961	\N	\N	EFO	3	EFO	auditory system disease	Ramos-Arroyo syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	2032188	\N	\N	EFO	4	EFO	genetic disorder	Ramos-Arroyo syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	2032189	\N	\N	EFO	4	EFO	genetic disorder	Ramos-Arroyo syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	3182769	\N	\N	EFO	5	EFO	disease	Ramos-Arroyo syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	2032191	\N	\N	EFO	4	EFO	sensory system disease	Ramos-Arroyo syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	5410051	\N	\N	EFO	7	EFO	disposition	Ramos-Arroyo syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	3182771	\N	\N	EFO	5	EFO	nervous system disease	Ramos-Arroyo syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	5876696	\N	\N	EFO	8	EFO	material property	Ramos-Arroyo syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	4390794	\N	\N	EFO	6	EFO	disease	Ramos-Arroyo syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1051	"Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." []	6469910	\N	\N	EFO	9	EFO	experimental factor	Ramos-Arroyo syndrome
Orphanet:1052	\N	\N	"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." []	Orphanet:1052	"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." []	73272	\N	\N	EFO	0	EFO	Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy syndrome
Orphanet:183422	Orphanet:1052	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:1052	"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." []	214404	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Mosaic variegated aneuploidy syndrome
Orphanet:68335	Orphanet:1052	\N	"" []	Orphanet:1052	"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." []	214405	\N	\N	EFO	1	EFO	Chromosomal anomaly	Mosaic variegated aneuploidy syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:1052	"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." []	568398	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Mosaic variegated aneuploidy syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1052	"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." []	568399	\N	\N	EFO	2	EFO	genetic disorder	Mosaic variegated aneuploidy syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1052	"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." []	1149962	\N	\N	EFO	3	EFO	genetic disorder	Mosaic variegated aneuploidy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1052	"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." []	2032192	\N	\N	EFO	4	EFO	disease	Mosaic variegated aneuploidy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1052	"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." []	3000106	\N	\N	EFO	5	EFO	disposition	Mosaic variegated aneuploidy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1052	"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." []	4133204	\N	\N	EFO	6	EFO	material property	Mosaic variegated aneuploidy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1052	"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." []	5181475	\N	\N	EFO	7	EFO	experimental factor	Mosaic variegated aneuploidy syndrome
Orphanet:1059	\N	\N	"" []	Orphanet:1059	"" []	73273	\N	\N	EFO	0	EFO	Blue rubber bleb nevus	Blue rubber bleb nevus
Orphanet:140162	Orphanet:1059	\N	"" []	Orphanet:1059	"" []	214406	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Blue rubber bleb nevus
Orphanet:183478	Orphanet:1059	\N	"" []	Orphanet:1059	"" []	214407	\N	\N	EFO	1	EFO	Genetic skin vascular disorder	Blue rubber bleb nevus
Orphanet:211240	Orphanet:1059	\N	"" []	Orphanet:1059	"" []	214408	\N	\N	EFO	1	EFO	Genetic vascular anomaly	Blue rubber bleb nevus
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1059	"" []	568400	\N	\N	EFO	2	EFO	genetic disorder	Blue rubber bleb nevus
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:1059	"" []	568401	\N	\N	EFO	2	EFO	Genetic dermis disorder	Blue rubber bleb nevus
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:1059	"" []	568402	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Blue rubber bleb nevus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1059	"" []	3182774	\N	\N	EFO	5	EFO	disease	Blue rubber bleb nevus
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:1059	"" []	1149965	\N	\N	EFO	3	EFO	Rare genetic skin disease	Blue rubber bleb nevus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1059	"" []	1149966	\N	\N	EFO	3	EFO	genetic disorder	Blue rubber bleb nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1059	"" []	4066828	\N	\N	EFO	6	EFO	disposition	Blue rubber bleb nevus
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1059	"" []	2032195	\N	\N	EFO	4	EFO	genetic disorder	Blue rubber bleb nevus
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1059	"" []	2032196	\N	\N	EFO	4	EFO	skin disease	Blue rubber bleb nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1059	"" []	5059541	\N	\N	EFO	7	EFO	material property	Blue rubber bleb nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1059	"" []	3182775	\N	\N	EFO	5	EFO	disease	Blue rubber bleb nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1059	"" []	5876697	\N	\N	EFO	8	EFO	experimental factor	Blue rubber bleb nevus
Orphanet:1062	\N	\N	"" []	Orphanet:1062	"" []	73274	\N	\N	EFO	0	EFO	Hereditary neurocutaneous angioma	Hereditary neurocutaneous angioma
Orphanet:166487	Orphanet:1062	\N	"" []	Orphanet:1062	"" []	214409	\N	\N	EFO	1	EFO	Cerebral diseases of vascular origin with epilepsy	Hereditary neurocutaneous angioma
Orphanet:371436	Orphanet:1062	\N	"" []	Orphanet:1062	"" []	214410	\N	\N	EFO	1	EFO	Genetic neurovascular malformation	Hereditary neurocutaneous angioma
Orphanet:98196	Orphanet:1062	\N	"" []	Orphanet:1062	"" []	214411	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Hereditary neurocutaneous angioma
Orphanet:183512	Orphanet:166487	\N	"" []	Orphanet:1062	"" []	568403	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Hereditary neurocutaneous angioma
Orphanet:183503	Orphanet:371436	\N	"" []	Orphanet:1062	"" []	568404	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Hereditary neurocutaneous angioma
Orphanet:211240	Orphanet:371436	\N	"" []	Orphanet:1062	"" []	568405	\N	\N	EFO	2	EFO	Genetic vascular anomaly	Hereditary neurocutaneous angioma
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:1062	"" []	568406	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hereditary neurocutaneous angioma
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1062	"" []	1149967	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary neurocutaneous angioma
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:1062	"" []	1149968	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary neurocutaneous angioma
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:1062	"" []	1149969	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hereditary neurocutaneous angioma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1062	"" []	2032199	\N	\N	EFO	4	EFO	genetic disorder	Hereditary neurocutaneous angioma
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1062	"" []	2032198	\N	\N	EFO	4	EFO	genetic disorder	Hereditary neurocutaneous angioma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1062	"" []	3000108	\N	\N	EFO	5	EFO	disease	Hereditary neurocutaneous angioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1062	"" []	4133206	\N	\N	EFO	6	EFO	disposition	Hereditary neurocutaneous angioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1062	"" []	5181477	\N	\N	EFO	7	EFO	material property	Hereditary neurocutaneous angioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1062	"" []	5996857	\N	\N	EFO	8	EFO	experimental factor	Hereditary neurocutaneous angioma
Orphanet:1063	\N	\N	"" []	Orphanet:1063	"" []	73275	\N	\N	EFO	0	EFO	Tufted angioma	Tufted angioma
Orphanet:211240	Orphanet:1063	\N	"" []	Orphanet:1063	"" []	214412	\N	\N	EFO	1	EFO	Genetic vascular anomaly	Tufted angioma
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:1063	"" []	568407	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Tufted angioma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1063	"" []	1149971	\N	\N	EFO	3	EFO	genetic disorder	Tufted angioma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1063	"" []	2032201	\N	\N	EFO	4	EFO	disease	Tufted angioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1063	"" []	3182777	\N	\N	EFO	5	EFO	disposition	Tufted angioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1063	"" []	4390798	\N	\N	EFO	6	EFO	material property	Tufted angioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1063	"" []	5410053	\N	\N	EFO	7	EFO	experimental factor	Tufted angioma
Orphanet:1064	\N	\N	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	73276	\N	\N	EFO	0	EFO	Aniridia - renal agenesis - psychomotor retardation	Aniridia - renal agenesis - psychomotor retardation
Orphanet:102283	Orphanet:1064	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	214413	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Aniridia - renal agenesis - psychomotor retardation
Orphanet:183763	Orphanet:1064	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	214414	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Aniridia - renal agenesis - psychomotor retardation
Orphanet:93547	Orphanet:1064	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	214415	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Aniridia - renal agenesis - psychomotor retardation
Orphanet:98557	Orphanet:1064	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	214416	\N	\N	EFO	1	EFO	Syndromic aniridia	Aniridia - renal agenesis - psychomotor retardation
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	568408	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Aniridia - renal agenesis - psychomotor retardation
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	568409	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Aniridia - renal agenesis - psychomotor retardation
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	568410	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Aniridia - renal agenesis - psychomotor retardation
Orphanet:77	Orphanet:98557	\N	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	568411	\N	\N	EFO	2	EFO	Aniridia	Aniridia - renal agenesis - psychomotor retardation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	1149972	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Aniridia - renal agenesis - psychomotor retardation
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	1149973	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Aniridia - renal agenesis - psychomotor retardation
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	1149974	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Aniridia - renal agenesis - psychomotor retardation
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	1149975	\N	\N	EFO	3	EFO	Rare genetic renal disease	Aniridia - renal agenesis - psychomotor retardation
Orphanet:98554	Orphanet:77	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	1149976	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Aniridia - renal agenesis - psychomotor retardation
Orphanet:98634	Orphanet:77	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	1149977	\N	\N	EFO	3	EFO	Iridogoniodysgenesis	Aniridia - renal agenesis - psychomotor retardation
Orphanet:98641	Orphanet:77	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	1149978	\N	\N	EFO	3	EFO	Syndromic cataract	Aniridia - renal agenesis - psychomotor retardation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	6778592	\N	\N	EFO	10	EFO	genetic disorder	Aniridia - renal agenesis - psychomotor retardation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	2032203	\N	\N	EFO	4	EFO	genetic disorder	Aniridia - renal agenesis - psychomotor retardation
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	2032204	\N	\N	EFO	4	EFO	genetic disorder	Aniridia - renal agenesis - psychomotor retardation
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	2032205	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Aniridia - renal agenesis - psychomotor retardation
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	2032206	\N	\N	EFO	4	EFO	Glaucoma associated with neural crest cell migration anomaly	Aniridia - renal agenesis - psychomotor retardation
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	2032207	\N	\N	EFO	4	EFO	Rare cataract	Aniridia - renal agenesis - psychomotor retardation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	7008627	\N	\N	EFO	11	EFO	disease	Aniridia - renal agenesis - psychomotor retardation
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	6632007	\N	\N	EFO	9	EFO	Rare genetic eye disease	Aniridia - renal agenesis - psychomotor retardation
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	6632008	\N	\N	EFO	9	EFO	Rare genetic developmental defect during embryogenesis	Aniridia - renal agenesis - psychomotor retardation
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	3182781	\N	\N	EFO	5	EFO	Secondary dysgenetic glaucoma	Aniridia - renal agenesis - psychomotor retardation
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	3182782	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Aniridia - renal agenesis - psychomotor retardation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	7167524	\N	\N	EFO	12	EFO	disposition	Aniridia - renal agenesis - psychomotor retardation
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	6778590	\N	\N	EFO	10	EFO	genetic disorder	Aniridia - renal agenesis - psychomotor retardation
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	6778591	\N	\N	EFO	10	EFO	eye disease	Aniridia - renal agenesis - psychomotor retardation
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	4390803	\N	\N	EFO	6	EFO	Hereditary glaucoma	Aniridia - renal agenesis - psychomotor retardation
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	4390804	\N	\N	EFO	6	EFO	Rare genetic eye disease	Aniridia - renal agenesis - psychomotor retardation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	7272432	\N	\N	EFO	13	EFO	material property	Aniridia - renal agenesis - psychomotor retardation
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	7029807	\N	\N	EFO	11	EFO	disease	Aniridia - renal agenesis - psychomotor retardation
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	5410056	\N	\N	EFO	7	EFO	Non-syndromic developmental defect of the eye	Aniridia - renal agenesis - psychomotor retardation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	7348675	\N	\N	EFO	14	EFO	experimental factor	Aniridia - renal agenesis - psychomotor retardation
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:1064	"Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." []	6147934	\N	\N	EFO	8	EFO	Genetic developmental defect of the eye	Aniridia - renal agenesis - psychomotor retardation
Orphanet:1065	\N	\N	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	73277	\N	\N	EFO	0	EFO	Aniridia - cerebellar ataxia - intellectual disability	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:108987	Orphanet:1065	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	214417	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:183763	Orphanet:1065	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	214418	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:98557	Orphanet:1065	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	214419	\N	\N	EFO	1	EFO	Syndromic aniridia	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:98638	Orphanet:1065	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	214420	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	568412	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	568413	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:77	Orphanet:98557	\N	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	568414	\N	\N	EFO	2	EFO	Aniridia	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	568415	\N	\N	EFO	2	EFO	Rare genetic eye disease	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	6632009	\N	\N	EFO	9	EFO	Rare genetic eye disease	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	6632010	\N	\N	EFO	9	EFO	Rare genetic developmental defect during embryogenesis	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	1149981	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:98554	Orphanet:77	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	1149982	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:98634	Orphanet:77	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	1149983	\N	\N	EFO	3	EFO	Iridogoniodysgenesis	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:98641	Orphanet:77	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	1149984	\N	\N	EFO	3	EFO	Syndromic cataract	Aniridia - cerebellar ataxia - intellectual disability
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	6758559	\N	\N	EFO	10	EFO	genetic disorder	Aniridia - cerebellar ataxia - intellectual disability
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	6758560	\N	\N	EFO	10	EFO	eye disease	Aniridia - cerebellar ataxia - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	6758561	\N	\N	EFO	10	EFO	genetic disorder	Aniridia - cerebellar ataxia - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	2032211	\N	\N	EFO	4	EFO	genetic disorder	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	2032212	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	2032213	\N	\N	EFO	4	EFO	Glaucoma associated with neural crest cell migration anomaly	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	2032214	\N	\N	EFO	4	EFO	Rare cataract	Aniridia - cerebellar ataxia - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	7007010	\N	\N	EFO	11	EFO	disease	Aniridia - cerebellar ataxia - intellectual disability
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	7007011	\N	\N	EFO	11	EFO	disease	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	3182785	\N	\N	EFO	5	EFO	Secondary dysgenetic glaucoma	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	3182786	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Aniridia - cerebellar ataxia - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	7164486	\N	\N	EFO	12	EFO	disposition	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	4390805	\N	\N	EFO	6	EFO	Hereditary glaucoma	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	4390806	\N	\N	EFO	6	EFO	Rare genetic eye disease	Aniridia - cerebellar ataxia - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	7269840	\N	\N	EFO	13	EFO	material property	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	5410059	\N	\N	EFO	7	EFO	Non-syndromic developmental defect of the eye	Aniridia - cerebellar ataxia - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	7347606	\N	\N	EFO	14	EFO	experimental factor	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:1065	"Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability." []	6147935	\N	\N	EFO	8	EFO	Genetic developmental defect of the eye	Aniridia - cerebellar ataxia - intellectual disability
Orphanet:1067	\N	\N	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	73278	\N	\N	EFO	0	EFO	Aniridia - ptosis - intellectual disability - familial obesity	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:108987	Orphanet:1067	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	214421	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:183763	Orphanet:1067	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	214422	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:98557	Orphanet:1067	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	214423	\N	\N	EFO	1	EFO	Syndromic aniridia	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	568416	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	568417	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:77	Orphanet:98557	\N	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	568418	\N	\N	EFO	2	EFO	Aniridia	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	6632011	\N	\N	EFO	9	EFO	Rare genetic eye disease	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	6632012	\N	\N	EFO	9	EFO	Rare genetic developmental defect during embryogenesis	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	1149989	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:98554	Orphanet:77	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	1149990	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:98634	Orphanet:77	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	1149991	\N	\N	EFO	3	EFO	Iridogoniodysgenesis	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:98641	Orphanet:77	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	1149992	\N	\N	EFO	3	EFO	Syndromic cataract	Aniridia - ptosis - intellectual disability - familial obesity
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	6758562	\N	\N	EFO	10	EFO	genetic disorder	Aniridia - ptosis - intellectual disability - familial obesity
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	6758563	\N	\N	EFO	10	EFO	eye disease	Aniridia - ptosis - intellectual disability - familial obesity
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	6758564	\N	\N	EFO	10	EFO	genetic disorder	Aniridia - ptosis - intellectual disability - familial obesity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	2032220	\N	\N	EFO	4	EFO	genetic disorder	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	2032221	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	2032222	\N	\N	EFO	4	EFO	Glaucoma associated with neural crest cell migration anomaly	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	2032223	\N	\N	EFO	4	EFO	Rare cataract	Aniridia - ptosis - intellectual disability - familial obesity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	7008628	\N	\N	EFO	11	EFO	disease	Aniridia - ptosis - intellectual disability - familial obesity
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	7008629	\N	\N	EFO	11	EFO	disease	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	3182792	\N	\N	EFO	5	EFO	Secondary dysgenetic glaucoma	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	3182793	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Aniridia - ptosis - intellectual disability - familial obesity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	7167525	\N	\N	EFO	12	EFO	disposition	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	4390809	\N	\N	EFO	6	EFO	Hereditary glaucoma	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	4390810	\N	\N	EFO	6	EFO	Rare genetic eye disease	Aniridia - ptosis - intellectual disability - familial obesity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	7272433	\N	\N	EFO	13	EFO	material property	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	5410064	\N	\N	EFO	7	EFO	Non-syndromic developmental defect of the eye	Aniridia - ptosis - intellectual disability - familial obesity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	7348676	\N	\N	EFO	14	EFO	experimental factor	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:1067	"Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." []	6147937	\N	\N	EFO	8	EFO	Genetic developmental defect of the eye	Aniridia - ptosis - intellectual disability - familial obesity
Orphanet:1068	\N	\N	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	73279	\N	\N	EFO	0	EFO	Aniridia-intellectual disability syndrome	Aniridia-intellectual disability syndrome
Orphanet:108987	Orphanet:1068	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	214424	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Aniridia-intellectual disability syndrome
Orphanet:183763	Orphanet:1068	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	214425	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Aniridia-intellectual disability syndrome
Orphanet:98557	Orphanet:1068	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	214426	\N	\N	EFO	1	EFO	Syndromic aniridia	Aniridia-intellectual disability syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	568419	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Aniridia-intellectual disability syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	568420	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Aniridia-intellectual disability syndrome
Orphanet:77	Orphanet:98557	\N	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	568421	\N	\N	EFO	2	EFO	Aniridia	Aniridia-intellectual disability syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	6632013	\N	\N	EFO	9	EFO	Rare genetic eye disease	Aniridia-intellectual disability syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	6632014	\N	\N	EFO	9	EFO	Rare genetic developmental defect during embryogenesis	Aniridia-intellectual disability syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	1149995	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Aniridia-intellectual disability syndrome
Orphanet:98554	Orphanet:77	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	1149996	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Aniridia-intellectual disability syndrome
Orphanet:98634	Orphanet:77	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	1149997	\N	\N	EFO	3	EFO	Iridogoniodysgenesis	Aniridia-intellectual disability syndrome
Orphanet:98641	Orphanet:77	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	1149998	\N	\N	EFO	3	EFO	Syndromic cataract	Aniridia-intellectual disability syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	6758565	\N	\N	EFO	10	EFO	genetic disorder	Aniridia-intellectual disability syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	6758566	\N	\N	EFO	10	EFO	eye disease	Aniridia-intellectual disability syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	6758567	\N	\N	EFO	10	EFO	genetic disorder	Aniridia-intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	2032227	\N	\N	EFO	4	EFO	genetic disorder	Aniridia-intellectual disability syndrome
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	2032228	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Aniridia-intellectual disability syndrome
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	2032229	\N	\N	EFO	4	EFO	Glaucoma associated with neural crest cell migration anomaly	Aniridia-intellectual disability syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	2032230	\N	\N	EFO	4	EFO	Rare cataract	Aniridia-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	7008630	\N	\N	EFO	11	EFO	disease	Aniridia-intellectual disability syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	7008631	\N	\N	EFO	11	EFO	disease	Aniridia-intellectual disability syndrome
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	3182798	\N	\N	EFO	5	EFO	Secondary dysgenetic glaucoma	Aniridia-intellectual disability syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	3182799	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Aniridia-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	7167526	\N	\N	EFO	12	EFO	disposition	Aniridia-intellectual disability syndrome
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	4390812	\N	\N	EFO	6	EFO	Hereditary glaucoma	Aniridia-intellectual disability syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	4390813	\N	\N	EFO	6	EFO	Rare genetic eye disease	Aniridia-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	7272434	\N	\N	EFO	13	EFO	material property	Aniridia-intellectual disability syndrome
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	5410068	\N	\N	EFO	7	EFO	Non-syndromic developmental defect of the eye	Aniridia-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	7348677	\N	\N	EFO	14	EFO	experimental factor	Aniridia-intellectual disability syndrome
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:1068	"Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." []	6147939	\N	\N	EFO	8	EFO	Genetic developmental defect of the eye	Aniridia-intellectual disability syndrome
Orphanet:1069	\N	\N	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	73280	\N	\N	EFO	0	EFO	Aniridia - absent patella	Aniridia - absent patella
Orphanet:108987	Orphanet:1069	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	214427	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Aniridia - absent patella
Orphanet:98557	Orphanet:1069	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	214428	\N	\N	EFO	1	EFO	Syndromic aniridia	Aniridia - absent patella
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	568422	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Aniridia - absent patella
Orphanet:77	Orphanet:98557	\N	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	568423	\N	\N	EFO	2	EFO	Aniridia	Aniridia - absent patella
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	6632015	\N	\N	EFO	9	EFO	Rare genetic eye disease	Aniridia - absent patella
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	6632016	\N	\N	EFO	9	EFO	Rare genetic developmental defect during embryogenesis	Aniridia - absent patella
Orphanet:98554	Orphanet:77	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	1150001	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Aniridia - absent patella
Orphanet:98634	Orphanet:77	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	1150002	\N	\N	EFO	3	EFO	Iridogoniodysgenesis	Aniridia - absent patella
Orphanet:98641	Orphanet:77	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	1150003	\N	\N	EFO	3	EFO	Syndromic cataract	Aniridia - absent patella
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	6758568	\N	\N	EFO	10	EFO	genetic disorder	Aniridia - absent patella
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	6758569	\N	\N	EFO	10	EFO	eye disease	Aniridia - absent patella
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	6758570	\N	\N	EFO	10	EFO	genetic disorder	Aniridia - absent patella
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	2032234	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Aniridia - absent patella
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	2032235	\N	\N	EFO	4	EFO	Glaucoma associated with neural crest cell migration anomaly	Aniridia - absent patella
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	2032236	\N	\N	EFO	4	EFO	Rare cataract	Aniridia - absent patella
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	7008632	\N	\N	EFO	11	EFO	disease	Aniridia - absent patella
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	7008633	\N	\N	EFO	11	EFO	disease	Aniridia - absent patella
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	3182804	\N	\N	EFO	5	EFO	Secondary dysgenetic glaucoma	Aniridia - absent patella
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	3182805	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Aniridia - absent patella
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	7167527	\N	\N	EFO	12	EFO	disposition	Aniridia - absent patella
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	4390815	\N	\N	EFO	6	EFO	Hereditary glaucoma	Aniridia - absent patella
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	4390816	\N	\N	EFO	6	EFO	Rare genetic eye disease	Aniridia - absent patella
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	7272435	\N	\N	EFO	13	EFO	material property	Aniridia - absent patella
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	5410072	\N	\N	EFO	7	EFO	Non-syndromic developmental defect of the eye	Aniridia - absent patella
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	7348678	\N	\N	EFO	14	EFO	experimental factor	Aniridia - absent patella
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:1069	"Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." []	6147941	\N	\N	EFO	8	EFO	Genetic developmental defect of the eye	Aniridia - absent patella
Orphanet:107	\N	\N	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	73281	\N	\N	EFO	0	EFO	BOR syndrome	BOR syndrome
Orphanet:156202	Orphanet:107	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	214429	\N	\N	EFO	1	EFO	Otomandibular dysplasia associated with monogenic syndromes	BOR syndrome
Orphanet:156237	Orphanet:107	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	214430	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	BOR syndrome
Orphanet:183576	Orphanet:107	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	214431	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	BOR syndrome
Orphanet:330206	Orphanet:107	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	214432	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	BOR syndrome
Orphanet:90642	Orphanet:107	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	214433	\N	\N	EFO	1	EFO	Syndromic genetic deafness	BOR syndrome
Orphanet:93547	Orphanet:107	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	214434	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	BOR syndrome
Orphanet:155896	Orphanet:156202	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	568424	\N	\N	EFO	2	EFO	Otomandibular dysplasia	BOR syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	568425	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	BOR syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	568426	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	BOR syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	568427	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	BOR syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	568428	\N	\N	EFO	2	EFO	Rare genetic deafness	BOR syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	568429	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	BOR syndrome
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	1150004	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	BOR syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	2032237	\N	\N	EFO	4	EFO	Genetic head and neck malformation	BOR syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	4133208	\N	\N	EFO	6	EFO	genetic disorder	BOR syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	1150007	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	BOR syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	1150008	\N	\N	EFO	3	EFO	genetic disorder	BOR syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	1150009	\N	\N	EFO	3	EFO	auditory system disease	BOR syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	1150010	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	BOR syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	1150011	\N	\N	EFO	3	EFO	Rare genetic renal disease	BOR syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	3000111	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	BOR syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	5028376	\N	\N	EFO	7	EFO	disease	BOR syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	2032241	\N	\N	EFO	4	EFO	sensory system disease	BOR syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	2032242	\N	\N	EFO	4	EFO	genetic disorder	BOR syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	5817436	\N	\N	EFO	8	EFO	disposition	BOR syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	3182808	\N	\N	EFO	5	EFO	nervous system disease	BOR syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	6409796	\N	\N	EFO	9	EFO	material property	BOR syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	4390818	\N	\N	EFO	6	EFO	disease	BOR syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:107	"The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck." []	6807654	\N	\N	EFO	10	EFO	experimental factor	BOR syndrome
Orphanet:1071	\N	\N	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	73282	\N	\N	EFO	0	EFO	Ankyloblepharon - ectodermal defects - cleft lip/palate	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:108987	Orphanet:1071	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	214435	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:156237	Orphanet:1071	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	214436	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:404574	Orphanet:1071	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	214437	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:79373	Orphanet:1071	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	214438	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:98565	Orphanet:1071	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	214439	\N	\N	EFO	1	EFO	Syndromic ankyloblepharon	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	568430	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	568431	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	568432	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	568433	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	568434	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	568435	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:98564	Orphanet:98565	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	568436	\N	\N	EFO	2	EFO	Eyelid border anomaly	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	1150012	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	1150013	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	1150014	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	1150015	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	1150016	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	1150017	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	1150018	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	1150019	\N	\N	EFO	3	EFO	Eyelid malformation	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	5410078	\N	\N	EFO	7	EFO	genetic disorder	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	5410079	\N	\N	EFO	7	EFO	eye disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	4390821	\N	\N	EFO	6	EFO	genetic disorder	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	2032246	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	2032247	\N	\N	EFO	4	EFO	Rare genetic bone disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	2032248	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	2032249	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	2032250	\N	\N	EFO	4	EFO	genetic disorder	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	2032251	\N	\N	EFO	4	EFO	skin disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	2032252	\N	\N	EFO	4	EFO	Rare palpebral disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	5817437	\N	\N	EFO	8	EFO	disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	5817438	\N	\N	EFO	8	EFO	disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	3182812	\N	\N	EFO	5	EFO	genetic disorder	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	3182813	\N	\N	EFO	5	EFO	bone disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	3182814	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	3182815	\N	\N	EFO	5	EFO	disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	3182816	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	6409797	\N	\N	EFO	9	EFO	disposition	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	4390820	\N	\N	EFO	6	EFO	skeletal system disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	4390822	\N	\N	EFO	6	EFO	Rare genetic eye disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	6807655	\N	\N	EFO	10	EFO	material property	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	5410077	\N	\N	EFO	7	EFO	disease	Ankyloblepharon - ectodermal defects - cleft lip/palate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1071	"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." []	7048528	\N	\N	EFO	11	EFO	experimental factor	Ankyloblepharon - ectodermal defects - cleft lip/palate
Orphanet:1072	\N	\N	"" []	Orphanet:1072	"" []	73283	\N	\N	EFO	0	EFO	Ankyloblepharon filiforme adnatum - cleft palate	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:108987	Orphanet:1072	\N	"" []	Orphanet:1072	"" []	214440	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:139039	Orphanet:1072	\N	"" []	Orphanet:1072	"" []	214441	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:98565	Orphanet:1072	\N	"" []	Orphanet:1072	"" []	214442	\N	\N	EFO	1	EFO	Syndromic ankyloblepharon	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1072	"" []	568437	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1072	"" []	568438	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:98564	Orphanet:98565	\N	"" []	Orphanet:1072	"" []	568439	\N	\N	EFO	2	EFO	Eyelid border anomaly	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1072	"" []	1150020	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1072	"" []	1150021	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1072	"" []	1150022	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:1072	"" []	1150023	\N	\N	EFO	3	EFO	Eyelid malformation	Ankyloblepharon filiforme adnatum - cleft palate
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1072	"" []	5410081	\N	\N	EFO	7	EFO	genetic disorder	Ankyloblepharon filiforme adnatum - cleft palate
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1072	"" []	5410082	\N	\N	EFO	7	EFO	eye disease	Ankyloblepharon filiforme adnatum - cleft palate
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1072	"" []	4390824	\N	\N	EFO	6	EFO	genetic disorder	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1072	"" []	2032256	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:1072	"" []	2032257	\N	\N	EFO	4	EFO	Rare palpebral disease	Ankyloblepharon filiforme adnatum - cleft palate
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1072	"" []	5817439	\N	\N	EFO	8	EFO	disease	Ankyloblepharon filiforme adnatum - cleft palate
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1072	"" []	5817440	\N	\N	EFO	8	EFO	disease	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1072	"" []	3182819	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1072	"" []	3182820	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Ankyloblepharon filiforme adnatum - cleft palate
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1072	"" []	6409798	\N	\N	EFO	9	EFO	disposition	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1072	"" []	4390825	\N	\N	EFO	6	EFO	Rare genetic eye disease	Ankyloblepharon filiforme adnatum - cleft palate
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1072	"" []	6807656	\N	\N	EFO	10	EFO	material property	Ankyloblepharon filiforme adnatum - cleft palate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1072	"" []	7048529	\N	\N	EFO	11	EFO	experimental factor	Ankyloblepharon filiforme adnatum - cleft palate
Orphanet:1074	\N	\N	"" []	Orphanet:1074	"" []	73284	\N	\N	EFO	0	EFO	Ankyloblepharon filiforme - imperforate anus	Ankyloblepharon filiforme - imperforate anus
Orphanet:108987	Orphanet:1074	\N	"" []	Orphanet:1074	"" []	214443	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Ankyloblepharon filiforme - imperforate anus
Orphanet:117573	Orphanet:1074	\N	"" []	Orphanet:1074	"" []	214444	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Ankyloblepharon filiforme - imperforate anus
Orphanet:156237	Orphanet:1074	\N	"" []	Orphanet:1074	"" []	214445	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Ankyloblepharon filiforme - imperforate anus
Orphanet:98565	Orphanet:1074	\N	"" []	Orphanet:1074	"" []	214446	\N	\N	EFO	1	EFO	Syndromic ankyloblepharon	Ankyloblepharon filiforme - imperforate anus
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1074	"" []	568440	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Ankyloblepharon filiforme - imperforate anus
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:1074	"" []	568441	\N	\N	EFO	2	EFO	Anorectal malformation	Ankyloblepharon filiforme - imperforate anus
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1074	"" []	568442	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Ankyloblepharon filiforme - imperforate anus
Orphanet:98564	Orphanet:98565	\N	"" []	Orphanet:1074	"" []	568443	\N	\N	EFO	2	EFO	Eyelid border anomaly	Ankyloblepharon filiforme - imperforate anus
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1074	"" []	1150024	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ankyloblepharon filiforme - imperforate anus
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1074	"" []	1150025	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ankyloblepharon filiforme - imperforate anus
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:1074	"" []	1150026	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Ankyloblepharon filiforme - imperforate anus
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1074	"" []	1150027	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Ankyloblepharon filiforme - imperforate anus
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:1074	"" []	1150028	\N	\N	EFO	3	EFO	Eyelid malformation	Ankyloblepharon filiforme - imperforate anus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1074	"" []	5410084	\N	\N	EFO	7	EFO	genetic disorder	Ankyloblepharon filiforme - imperforate anus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1074	"" []	5410085	\N	\N	EFO	7	EFO	eye disease	Ankyloblepharon filiforme - imperforate anus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1074	"" []	3182823	\N	\N	EFO	5	EFO	genetic disorder	Ankyloblepharon filiforme - imperforate anus
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1074	"" []	2032261	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ankyloblepharon filiforme - imperforate anus
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1074	"" []	2032262	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ankyloblepharon filiforme - imperforate anus
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:1074	"" []	2032263	\N	\N	EFO	4	EFO	Rare palpebral disease	Ankyloblepharon filiforme - imperforate anus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1074	"" []	5817441	\N	\N	EFO	8	EFO	disease	Ankyloblepharon filiforme - imperforate anus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1074	"" []	5817442	\N	\N	EFO	8	EFO	disease	Ankyloblepharon filiforme - imperforate anus
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1074	"" []	3182824	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Ankyloblepharon filiforme - imperforate anus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1074	"" []	6409799	\N	\N	EFO	9	EFO	disposition	Ankyloblepharon filiforme - imperforate anus
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1074	"" []	4390827	\N	\N	EFO	6	EFO	Rare genetic eye disease	Ankyloblepharon filiforme - imperforate anus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1074	"" []	6807657	\N	\N	EFO	10	EFO	material property	Ankyloblepharon filiforme - imperforate anus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1074	"" []	7048530	\N	\N	EFO	11	EFO	experimental factor	Ankyloblepharon filiforme - imperforate anus
Orphanet:1077	\N	\N	"" []	Orphanet:1077	"" []	73285	\N	\N	EFO	0	EFO	Dental ankylosis	Dental ankylosis
Orphanet:164001	Orphanet:1077	\N	"" []	Orphanet:1077	"" []	214447	\N	\N	EFO	1	EFO	Rare odontal or periodontal disorder	Dental ankylosis
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:1077	"" []	568444	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Dental ankylosis
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1077	"" []	1150029	\N	\N	EFO	3	EFO	genetic disorder	Dental ankylosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1077	"" []	2032264	\N	\N	EFO	4	EFO	disease	Dental ankylosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1077	"" []	3182825	\N	\N	EFO	5	EFO	disposition	Dental ankylosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1077	"" []	4390828	\N	\N	EFO	6	EFO	material property	Dental ankylosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1077	"" []	5410086	\N	\N	EFO	7	EFO	experimental factor	Dental ankylosis
Orphanet:1078	\N	\N	"" []	Orphanet:1078	"" []	73286	\N	\N	EFO	0	EFO	Thumb stiffness - brachydactyly - intellectual disability	Thumb stiffness - brachydactyly - intellectual disability
Orphanet:69028	Orphanet:1078	\N	"" []	Orphanet:1078	"" []	214448	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Thumb stiffness - brachydactyly - intellectual disability
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1078	"" []	568445	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Thumb stiffness - brachydactyly - intellectual disability
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1078	"" []	568446	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Thumb stiffness - brachydactyly - intellectual disability
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1078	"" []	1150030	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Thumb stiffness - brachydactyly - intellectual disability
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1078	"" []	1150031	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Thumb stiffness - brachydactyly - intellectual disability
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1078	"" []	2032265	\N	\N	EFO	4	EFO	Rare genetic bone disease	Thumb stiffness - brachydactyly - intellectual disability
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1078	"" []	2032266	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Thumb stiffness - brachydactyly - intellectual disability
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1078	"" []	2032267	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Thumb stiffness - brachydactyly - intellectual disability
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1078	"" []	3182826	\N	\N	EFO	5	EFO	genetic disorder	Thumb stiffness - brachydactyly - intellectual disability
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1078	"" []	3182827	\N	\N	EFO	5	EFO	bone disease	Thumb stiffness - brachydactyly - intellectual disability
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1078	"" []	3182828	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Thumb stiffness - brachydactyly - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1078	"" []	4390831	\N	\N	EFO	6	EFO	genetic disorder	Thumb stiffness - brachydactyly - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1078	"" []	5181482	\N	\N	EFO	7	EFO	disease	Thumb stiffness - brachydactyly - intellectual disability
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1078	"" []	4390830	\N	\N	EFO	6	EFO	skeletal system disease	Thumb stiffness - brachydactyly - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1078	"" []	5996864	\N	\N	EFO	8	EFO	disposition	Thumb stiffness - brachydactyly - intellectual disability
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1078	"" []	5410088	\N	\N	EFO	7	EFO	disease	Thumb stiffness - brachydactyly - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1078	"" []	6550474	\N	\N	EFO	9	EFO	material property	Thumb stiffness - brachydactyly - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1078	"" []	6889009	\N	\N	EFO	10	EFO	experimental factor	Thumb stiffness - brachydactyly - intellectual disability
Orphanet:1083	\N	\N	"" []	Orphanet:1083	"" []	73287	\N	\N	EFO	0	EFO	Microlissencephaly	Microlissencephaly
Orphanet:48471	Orphanet:1083	\N	"" []	Orphanet:1083	"" []	214449	\N	\N	EFO	1	EFO	Lissencephaly	Microlissencephaly
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:1083	"" []	568447	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Microlissencephaly
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:1083	"" []	568448	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Microlissencephaly
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:1083	"" []	568449	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microlissencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:1083	"" []	1150032	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Microlissencephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1083	"" []	1150033	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Microlissencephaly
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1083	"" []	1150034	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microlissencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1083	"" []	2032268	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microlissencephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1083	"" []	2032269	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microlissencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1083	"" []	2032270	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microlissencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1083	"" []	2032271	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microlissencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1083	"" []	3182830	\N	\N	EFO	5	EFO	genetic disorder	Microlissencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1083	"" []	3182831	\N	\N	EFO	5	EFO	genetic disorder	Microlissencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1083	"" []	4390832	\N	\N	EFO	6	EFO	disease	Microlissencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1083	"" []	5410089	\N	\N	EFO	7	EFO	disposition	Microlissencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1083	"" []	6147946	\N	\N	EFO	8	EFO	material property	Microlissencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1083	"" []	6632018	\N	\N	EFO	9	EFO	experimental factor	Microlissencephaly
Orphanet:1084	\N	\N	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	73288	\N	\N	EFO	0	EFO	Isolated lissencephaly type 1 without known genetic defects	Isolated lissencephaly type 1 without known genetic defects
Orphanet:102009	Orphanet:1084	\N	"" []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	214450	\N	\N	EFO	1	EFO	Classic lissencephaly	Isolated lissencephaly type 1 without known genetic defects
Orphanet:48471	Orphanet:102009	\N	"" []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	568450	\N	\N	EFO	2	EFO	Lissencephaly	Isolated lissencephaly type 1 without known genetic defects
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	1150035	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Isolated lissencephaly type 1 without known genetic defects
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	1150036	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Isolated lissencephaly type 1 without known genetic defects
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	1150037	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Isolated lissencephaly type 1 without known genetic defects
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	2032272	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Isolated lissencephaly type 1 without known genetic defects
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	2032273	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Isolated lissencephaly type 1 without known genetic defects
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	2032274	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Isolated lissencephaly type 1 without known genetic defects
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	3182832	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Isolated lissencephaly type 1 without known genetic defects
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	3182833	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Isolated lissencephaly type 1 without known genetic defects
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	3182834	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated lissencephaly type 1 without known genetic defects
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	3182835	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Isolated lissencephaly type 1 without known genetic defects
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	4390833	\N	\N	EFO	6	EFO	genetic disorder	Isolated lissencephaly type 1 without known genetic defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	4390834	\N	\N	EFO	6	EFO	genetic disorder	Isolated lissencephaly type 1 without known genetic defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	5410090	\N	\N	EFO	7	EFO	disease	Isolated lissencephaly type 1 without known genetic defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	6147947	\N	\N	EFO	8	EFO	disposition	Isolated lissencephaly type 1 without known genetic defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	6632019	\N	\N	EFO	9	EFO	material property	Isolated lissencephaly type 1 without known genetic defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1084	"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." []	6925377	\N	\N	EFO	10	EFO	experimental factor	Isolated lissencephaly type 1 without known genetic defects
Orphanet:1088	\N	\N	"" []	Orphanet:1088	"" []	73289	\N	\N	EFO	0	EFO	Short stature-heart defect-craniofacial anomalies syndrome	Short stature-heart defect-craniofacial anomalies syndrome
Orphanet:330197	Orphanet:1088	\N	"" []	Orphanet:1088	"" []	214451	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Short stature-heart defect-craniofacial anomalies syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1088	"" []	568451	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Short stature-heart defect-craniofacial anomalies syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1088	"" []	1150038	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Short stature-heart defect-craniofacial anomalies syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1088	"" []	2032275	\N	\N	EFO	4	EFO	genetic disorder	Short stature-heart defect-craniofacial anomalies syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1088	"" []	3182836	\N	\N	EFO	5	EFO	disease	Short stature-heart defect-craniofacial anomalies syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1088	"" []	4390835	\N	\N	EFO	6	EFO	disposition	Short stature-heart defect-craniofacial anomalies syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1088	"" []	5410091	\N	\N	EFO	7	EFO	material property	Short stature-heart defect-craniofacial anomalies syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1088	"" []	6147948	\N	\N	EFO	8	EFO	experimental factor	Short stature-heart defect-craniofacial anomalies syndrome
Orphanet:108959	\N	\N	"" []	Orphanet:108959	"" []	73290	\N	\N	EFO	0	EFO	Non-syndromic esophageal malformation	Non-syndromic esophageal malformation
Orphanet:88993	Orphanet:108959	\N	"" []	Orphanet:108959	"" []	214452	\N	\N	EFO	1	EFO	Esophageal malformation	Non-syndromic esophageal malformation
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:108959	"" []	568452	\N	\N	EFO	2	EFO	Genetic digestive tract malformation	Non-syndromic esophageal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:108959	"" []	1150039	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic esophageal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:108959	"" []	2032276	\N	\N	EFO	4	EFO	genetic disorder	Non-syndromic esophageal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108959	"" []	3182837	\N	\N	EFO	5	EFO	disease	Non-syndromic esophageal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:108959	"" []	4390836	\N	\N	EFO	6	EFO	disposition	Non-syndromic esophageal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:108959	"" []	5410092	\N	\N	EFO	7	EFO	material property	Non-syndromic esophageal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:108959	"" []	6147949	\N	\N	EFO	8	EFO	experimental factor	Non-syndromic esophageal malformation
Orphanet:108963	\N	\N	"" []	Orphanet:108963	"" []	73291	\N	\N	EFO	0	EFO	Non-syndromic gastroduodenal malformation	Non-syndromic gastroduodenal malformation
Orphanet:97944	Orphanet:108963	\N	"" []	Orphanet:108963	"" []	214453	\N	\N	EFO	1	EFO	Gastroduodenal malformation	Non-syndromic gastroduodenal malformation
Orphanet:183545	Orphanet:97944	\N	"" []	Orphanet:108963	"" []	568453	\N	\N	EFO	2	EFO	Genetic digestive tract malformation	Non-syndromic gastroduodenal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:108963	"" []	1150040	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic gastroduodenal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:108963	"" []	2032277	\N	\N	EFO	4	EFO	genetic disorder	Non-syndromic gastroduodenal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108963	"" []	3182838	\N	\N	EFO	5	EFO	disease	Non-syndromic gastroduodenal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:108963	"" []	4390837	\N	\N	EFO	6	EFO	disposition	Non-syndromic gastroduodenal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:108963	"" []	5410093	\N	\N	EFO	7	EFO	material property	Non-syndromic gastroduodenal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:108963	"" []	6147950	\N	\N	EFO	8	EFO	experimental factor	Non-syndromic gastroduodenal malformation
Orphanet:108965	\N	\N	"" []	Orphanet:108965	"" []	73292	\N	\N	EFO	0	EFO	Syndromic gastroduodenal malformation	Syndromic gastroduodenal malformation
Orphanet:97944	Orphanet:108965	\N	"" []	Orphanet:108965	"" []	214454	\N	\N	EFO	1	EFO	Gastroduodenal malformation	Syndromic gastroduodenal malformation
Orphanet:183545	Orphanet:97944	\N	"" []	Orphanet:108965	"" []	568454	\N	\N	EFO	2	EFO	Genetic digestive tract malformation	Syndromic gastroduodenal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:108965	"" []	1150041	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndromic gastroduodenal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:108965	"" []	2032278	\N	\N	EFO	4	EFO	genetic disorder	Syndromic gastroduodenal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108965	"" []	3182839	\N	\N	EFO	5	EFO	disease	Syndromic gastroduodenal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:108965	"" []	4390838	\N	\N	EFO	6	EFO	disposition	Syndromic gastroduodenal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:108965	"" []	5410094	\N	\N	EFO	7	EFO	material property	Syndromic gastroduodenal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:108965	"" []	6147951	\N	\N	EFO	8	EFO	experimental factor	Syndromic gastroduodenal malformation
Orphanet:108967	\N	\N	"" []	Orphanet:108967	"" []	73293	\N	\N	EFO	0	EFO	Non-syndromic intestinal malformation	Non-syndromic intestinal malformation
Orphanet:97945	Orphanet:108967	\N	"" []	Orphanet:108967	"" []	214455	\N	\N	EFO	1	EFO	Intestinal malformation	Non-syndromic intestinal malformation
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:108967	"" []	568455	\N	\N	EFO	2	EFO	Genetic digestive tract malformation	Non-syndromic intestinal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:108967	"" []	1150042	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic intestinal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:108967	"" []	2032279	\N	\N	EFO	4	EFO	genetic disorder	Non-syndromic intestinal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108967	"" []	3182840	\N	\N	EFO	5	EFO	disease	Non-syndromic intestinal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:108967	"" []	4390839	\N	\N	EFO	6	EFO	disposition	Non-syndromic intestinal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:108967	"" []	5410095	\N	\N	EFO	7	EFO	material property	Non-syndromic intestinal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:108967	"" []	6147952	\N	\N	EFO	8	EFO	experimental factor	Non-syndromic intestinal malformation
Orphanet:108969	\N	\N	"" []	Orphanet:108969	"" []	73294	\N	\N	EFO	0	EFO	Syndromic intestinal malformation	Syndromic intestinal malformation
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:108969	"" []	214456	\N	\N	EFO	1	EFO	Intestinal malformation	Syndromic intestinal malformation
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:108969	"" []	568456	\N	\N	EFO	2	EFO	Genetic digestive tract malformation	Syndromic intestinal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:108969	"" []	1150043	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndromic intestinal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:108969	"" []	2032280	\N	\N	EFO	4	EFO	genetic disorder	Syndromic intestinal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108969	"" []	3182841	\N	\N	EFO	5	EFO	disease	Syndromic intestinal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:108969	"" []	4390840	\N	\N	EFO	6	EFO	disposition	Syndromic intestinal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:108969	"" []	5410096	\N	\N	EFO	7	EFO	material property	Syndromic intestinal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:108969	"" []	6147953	\N	\N	EFO	8	EFO	experimental factor	Syndromic intestinal malformation
Orphanet:108971	\N	\N	"" []	Orphanet:108971	"" []	73295	\N	\N	EFO	0	EFO	Non-syndromic visceral malformation	Non-syndromic visceral malformation
Orphanet:183548	Orphanet:108971	\N	"" []	Orphanet:108971	"" []	214457	\N	\N	EFO	1	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Non-syndromic visceral malformation
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:108971	"" []	568457	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic visceral malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:108971	"" []	1150044	\N	\N	EFO	3	EFO	genetic disorder	Non-syndromic visceral malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108971	"" []	2032281	\N	\N	EFO	4	EFO	disease	Non-syndromic visceral malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:108971	"" []	3182842	\N	\N	EFO	5	EFO	disposition	Non-syndromic visceral malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:108971	"" []	4390841	\N	\N	EFO	6	EFO	material property	Non-syndromic visceral malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:108971	"" []	5410097	\N	\N	EFO	7	EFO	experimental factor	Non-syndromic visceral malformation
Orphanet:108973	\N	\N	"" []	Orphanet:108973	"" []	73296	\N	\N	EFO	0	EFO	Syndromic visceral malformation	Syndromic visceral malformation
Orphanet:183548	Orphanet:108973	\N	"" []	Orphanet:108973	"" []	214458	\N	\N	EFO	1	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Syndromic visceral malformation
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:108973	"" []	568458	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Syndromic visceral malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:108973	"" []	1150045	\N	\N	EFO	3	EFO	genetic disorder	Syndromic visceral malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108973	"" []	2032282	\N	\N	EFO	4	EFO	disease	Syndromic visceral malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:108973	"" []	3182843	\N	\N	EFO	5	EFO	disposition	Syndromic visceral malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:108973	"" []	4390842	\N	\N	EFO	6	EFO	material property	Syndromic visceral malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:108973	"" []	5410098	\N	\N	EFO	7	EFO	experimental factor	Syndromic visceral malformation
Orphanet:108985	\N	\N	"" []	Orphanet:108985	"" []	73297	\N	\N	EFO	0	EFO	Non-syndromic developmental defect of the eye	Non-syndromic developmental defect of the eye
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:108985	"" []	214459	\N	\N	EFO	1	EFO	Genetic developmental defect of the eye	Non-syndromic developmental defect of the eye
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:108985	"" []	568459	\N	\N	EFO	2	EFO	Rare genetic eye disease	Non-syndromic developmental defect of the eye
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:108985	"" []	568460	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic developmental defect of the eye
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:108985	"" []	1150046	\N	\N	EFO	3	EFO	genetic disorder	Non-syndromic developmental defect of the eye
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:108985	"" []	1150047	\N	\N	EFO	3	EFO	eye disease	Non-syndromic developmental defect of the eye
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:108985	"" []	1150048	\N	\N	EFO	3	EFO	genetic disorder	Non-syndromic developmental defect of the eye
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108985	"" []	2032283	\N	\N	EFO	4	EFO	disease	Non-syndromic developmental defect of the eye
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108985	"" []	2032284	\N	\N	EFO	4	EFO	disease	Non-syndromic developmental defect of the eye
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:108985	"" []	3182844	\N	\N	EFO	5	EFO	disposition	Non-syndromic developmental defect of the eye
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:108985	"" []	4390843	\N	\N	EFO	6	EFO	material property	Non-syndromic developmental defect of the eye
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:108985	"" []	5410099	\N	\N	EFO	7	EFO	experimental factor	Non-syndromic developmental defect of the eye
Orphanet:108987	\N	\N	"" []	Orphanet:108987	"" []	73298	\N	\N	EFO	0	EFO	Syndromic developmental defect of the eye	Syndromic developmental defect of the eye
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:108987	"" []	214460	\N	\N	EFO	1	EFO	Genetic developmental defect of the eye	Syndromic developmental defect of the eye
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:108987	"" []	568461	\N	\N	EFO	2	EFO	Rare genetic eye disease	Syndromic developmental defect of the eye
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:108987	"" []	568462	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Syndromic developmental defect of the eye
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:108987	"" []	1150049	\N	\N	EFO	3	EFO	genetic disorder	Syndromic developmental defect of the eye
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:108987	"" []	1150050	\N	\N	EFO	3	EFO	eye disease	Syndromic developmental defect of the eye
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:108987	"" []	1150051	\N	\N	EFO	3	EFO	genetic disorder	Syndromic developmental defect of the eye
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108987	"" []	2032285	\N	\N	EFO	4	EFO	disease	Syndromic developmental defect of the eye
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108987	"" []	2032286	\N	\N	EFO	4	EFO	disease	Syndromic developmental defect of the eye
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:108987	"" []	3182845	\N	\N	EFO	5	EFO	disposition	Syndromic developmental defect of the eye
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:108987	"" []	4390844	\N	\N	EFO	6	EFO	material property	Syndromic developmental defect of the eye
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:108987	"" []	5410100	\N	\N	EFO	7	EFO	experimental factor	Syndromic developmental defect of the eye
Orphanet:108993	\N	\N	"" []	Orphanet:108993	"" []	73299	\N	\N	EFO	0	EFO	Non-syndromic respiratory or mediastinal malformation	Non-syndromic respiratory or mediastinal malformation
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:108993	"" []	214461	\N	\N	EFO	1	EFO	Genetic respiratory or mediastinal malformation	Non-syndromic respiratory or mediastinal malformation
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:108993	"" []	568463	\N	\N	EFO	2	EFO	respiratory system disease	Non-syndromic respiratory or mediastinal malformation
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:108993	"" []	568464	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic respiratory or mediastinal malformation
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108993	"" []	1150052	\N	\N	EFO	3	EFO	disease	Non-syndromic respiratory or mediastinal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:108993	"" []	1150053	\N	\N	EFO	3	EFO	genetic disorder	Non-syndromic respiratory or mediastinal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:108993	"" []	3182847	\N	\N	EFO	5	EFO	disposition	Non-syndromic respiratory or mediastinal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:108993	"" []	2032288	\N	\N	EFO	4	EFO	disease	Non-syndromic respiratory or mediastinal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:108993	"" []	4133212	\N	\N	EFO	6	EFO	material property	Non-syndromic respiratory or mediastinal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:108993	"" []	5181483	\N	\N	EFO	7	EFO	experimental factor	Non-syndromic respiratory or mediastinal malformation
Orphanet:109	\N	\N	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	73300	\N	\N	EFO	0	EFO	Bannayan-Riley-Ruvalcaba syndrome	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:102283	Orphanet:109	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	214462	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:183763	Orphanet:109	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	214463	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:306498	Orphanet:109	\N	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	214464	\N	\N	EFO	1	EFO	PTEN hamartoma tumor syndrome	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:363314	Orphanet:109	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	214465	\N	\N	EFO	1	EFO	Genetic intestinal polyposis	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:93460	Orphanet:109	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	214466	\N	\N	EFO	1	EFO	Overgrowth syndrome	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	568465	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	568466	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:183422	Orphanet:306498	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	568467	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:98196	Orphanet:306498	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	568468	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	568469	\N	\N	EFO	2	EFO	Genetic intestinal disease	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	568470	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	1150054	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	1150055	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	1150056	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	1150057	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bannayan-Riley-Ruvalcaba syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	1150058	\N	\N	EFO	3	EFO	digestive system disease	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	1150059	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	1150060	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bannayan-Riley-Ruvalcaba syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	2032289	\N	\N	EFO	4	EFO	genetic disorder	Bannayan-Riley-Ruvalcaba syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	2032290	\N	\N	EFO	4	EFO	genetic disorder	Bannayan-Riley-Ruvalcaba syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	2032291	\N	\N	EFO	4	EFO	genetic disorder	Bannayan-Riley-Ruvalcaba syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	2032292	\N	\N	EFO	4	EFO	disease	Bannayan-Riley-Ruvalcaba syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	2032293	\N	\N	EFO	4	EFO	genetic disorder	Bannayan-Riley-Ruvalcaba syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	3182848	\N	\N	EFO	5	EFO	disease	Bannayan-Riley-Ruvalcaba syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	4390846	\N	\N	EFO	6	EFO	disposition	Bannayan-Riley-Ruvalcaba syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	5181484	\N	\N	EFO	7	EFO	material property	Bannayan-Riley-Ruvalcaba syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:109	"Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." []	5996865	\N	\N	EFO	8	EFO	experimental factor	Bannayan-Riley-Ruvalcaba syndrome
Orphanet:109007	\N	\N	"" []	Orphanet:109007	"" []	73301	\N	\N	EFO	0	EFO	Arthrogryposis syndrome	Arthrogryposis syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:109007	"" []	214467	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Arthrogryposis syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:109007	"" []	568471	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Arthrogryposis syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:109007	"" []	1150061	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Arthrogryposis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:109007	"" []	2032294	\N	\N	EFO	4	EFO	genetic disorder	Arthrogryposis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:109007	"" []	3182850	\N	\N	EFO	5	EFO	disease	Arthrogryposis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:109007	"" []	4390848	\N	\N	EFO	6	EFO	disposition	Arthrogryposis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:109007	"" []	5410102	\N	\N	EFO	7	EFO	material property	Arthrogryposis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:109007	"" []	6147954	\N	\N	EFO	8	EFO	experimental factor	Arthrogryposis syndrome
Orphanet:109011	\N	\N	"" []	Orphanet:109011	"" []	73302	\N	\N	EFO	0	EFO	Non-syndromic limb malformation	Non-syndromic limb malformation
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:109011	"" []	214468	\N	\N	EFO	1	EFO	Genetic congenital limb malformation	Non-syndromic limb malformation
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:109011	"" []	568472	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic limb malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:109011	"" []	1150062	\N	\N	EFO	3	EFO	genetic disorder	Non-syndromic limb malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:109011	"" []	2032295	\N	\N	EFO	4	EFO	disease	Non-syndromic limb malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:109011	"" []	3182851	\N	\N	EFO	5	EFO	disposition	Non-syndromic limb malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:109011	"" []	4390849	\N	\N	EFO	6	EFO	material property	Non-syndromic limb malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:109011	"" []	5410103	\N	\N	EFO	7	EFO	experimental factor	Non-syndromic limb malformation
Orphanet:1092	\N	\N	"" []	Orphanet:1092	"" []	73303	\N	\N	EFO	0	EFO	Renal-genital-middle ear anomalies	Renal-genital-middle ear anomalies
Orphanet:330206	Orphanet:1092	\N	"" []	Orphanet:1092	"" []	214469	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Renal-genital-middle ear anomalies
Orphanet:93547	Orphanet:1092	\N	"" []	Orphanet:1092	"" []	214470	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Renal-genital-middle ear anomalies
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1092	"" []	568473	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Renal-genital-middle ear anomalies
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1092	"" []	568474	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Renal-genital-middle ear anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1092	"" []	1150063	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renal-genital-middle ear anomalies
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1092	"" []	1150064	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renal-genital-middle ear anomalies
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1092	"" []	1150065	\N	\N	EFO	3	EFO	Rare genetic renal disease	Renal-genital-middle ear anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1092	"" []	2032296	\N	\N	EFO	4	EFO	genetic disorder	Renal-genital-middle ear anomalies
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1092	"" []	2032297	\N	\N	EFO	4	EFO	genetic disorder	Renal-genital-middle ear anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1092	"" []	3182852	\N	\N	EFO	5	EFO	disease	Renal-genital-middle ear anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1092	"" []	4390850	\N	\N	EFO	6	EFO	disposition	Renal-genital-middle ear anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1092	"" []	5410104	\N	\N	EFO	7	EFO	material property	Renal-genital-middle ear anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1092	"" []	6147955	\N	\N	EFO	8	EFO	experimental factor	Renal-genital-middle ear anomalies
Orphanet:1094	\N	\N	"" []	Orphanet:1094	"" []	73304	\N	\N	EFO	0	EFO	Anonychia - microcephaly	Anonychia - microcephaly
Orphanet:330206	Orphanet:1094	\N	"" []	Orphanet:1094	"" []	214471	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Anonychia - microcephaly
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1094	"" []	568475	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Anonychia - microcephaly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1094	"" []	1150066	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Anonychia - microcephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1094	"" []	2032298	\N	\N	EFO	4	EFO	genetic disorder	Anonychia - microcephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1094	"" []	3182853	\N	\N	EFO	5	EFO	disease	Anonychia - microcephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1094	"" []	4390851	\N	\N	EFO	6	EFO	disposition	Anonychia - microcephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1094	"" []	5410105	\N	\N	EFO	7	EFO	material property	Anonychia - microcephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1094	"" []	6147956	\N	\N	EFO	8	EFO	experimental factor	Anonychia - microcephaly
Orphanet:11	\N	\N	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	Orphanet:11	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	73305	\N	\N	EFO	0	EFO	Pentasomy X	Pentasomy X
Orphanet:263723	Orphanet:11	\N	"" []	Orphanet:11	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	214472	\N	\N	EFO	1	EFO	Polysomy of X chromosome	Pentasomy X
Orphanet:263717	Orphanet:263723	\N	"" []	Orphanet:11	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	568476	\N	\N	EFO	2	EFO	X chromosome number anomaly with female phenotype	Pentasomy X
Orphanet:263714	Orphanet:263717	\N	"" []	Orphanet:11	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	1150067	\N	\N	EFO	3	EFO	X chromosome number anomaly	Pentasomy X
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:11	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	2032299	\N	\N	EFO	4	EFO	Gonosome number anomaly	Pentasomy X
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:11	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	3182854	\N	\N	EFO	5	EFO	Gonosome anomaly	Pentasomy X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:11	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	4390852	\N	\N	EFO	6	EFO	Chromosomal anomaly	Pentasomy X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:11	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	5410106	\N	\N	EFO	7	EFO	genetic disorder	Pentasomy X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:11	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	6147957	\N	\N	EFO	8	EFO	disease	Pentasomy X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:11	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	6632020	\N	\N	EFO	9	EFO	disposition	Pentasomy X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:11	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	6925378	\N	\N	EFO	10	EFO	material property	Pentasomy X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:11	"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." []	7099003	\N	\N	EFO	11	EFO	experimental factor	Pentasomy X
Orphanet:110	\N	\N	"" []	Orphanet:110	"" []	73306	\N	\N	EFO	0	EFO	Bardet-Biedl syndrome	Bardet-Biedl syndrome
EFO:0003900	Orphanet:110	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:110	"" []	214473	\N	\N	EFO	1	EFO	ciliopathy	Bardet-Biedl syndrome
Orphanet:108969	Orphanet:110	\N	"" []	Orphanet:110	"" []	214474	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Bardet-Biedl syndrome
Orphanet:108987	Orphanet:110	\N	"" []	Orphanet:110	"" []	214475	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Bardet-Biedl syndrome
Orphanet:181387	Orphanet:110	\N	"" []	Orphanet:110	"" []	214476	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Bardet-Biedl syndrome
Orphanet:240371	Orphanet:110	\N	"" []	Orphanet:110	"" []	214477	\N	\N	EFO	1	EFO	Syndromic obesity	Bardet-Biedl syndrome
Orphanet:330197	Orphanet:110	\N	"" []	Orphanet:110	"" []	214478	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Bardet-Biedl syndrome
Orphanet:399846	Orphanet:110	\N	"" []	Orphanet:110	"" []	214479	\N	\N	EFO	1	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Bardet-Biedl syndrome
Orphanet:93547	Orphanet:110	\N	"" []	Orphanet:110	"" []	214480	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Bardet-Biedl syndrome
Orphanet:98661	Orphanet:110	\N	"" []	Orphanet:110	"" []	214481	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Bardet-Biedl syndrome
Orphanet:98666	Orphanet:110	\N	"" []	Orphanet:110	"" []	214482	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Bardet-Biedl syndrome
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:110	"" []	568477	\N	\N	EFO	2	EFO	genetic disorder	Bardet-Biedl syndrome
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:110	"" []	568478	\N	\N	EFO	2	EFO	Intestinal malformation	Bardet-Biedl syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:110	"" []	568479	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Bardet-Biedl syndrome
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:110	"" []	568480	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Bardet-Biedl syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:110	"" []	568481	\N	\N	EFO	2	EFO	Genetic obesity	Bardet-Biedl syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:110	"" []	568482	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Bardet-Biedl syndrome
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:110	"" []	568483	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Bardet-Biedl syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:110	"" []	568484	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Bardet-Biedl syndrome
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:110	"" []	568485	\N	\N	EFO	2	EFO	Retinal dystrophy	Bardet-Biedl syndrome
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:110	"" []	568486	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Bardet-Biedl syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:110	"" []	5817444	\N	\N	EFO	8	EFO	disease	Bardet-Biedl syndrome
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:110	"" []	1150069	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Bardet-Biedl syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:110	"" []	1150070	\N	\N	EFO	3	EFO	Rare genetic eye disease	Bardet-Biedl syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:110	"" []	1150071	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bardet-Biedl syndrome
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:110	"" []	1150072	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Bardet-Biedl syndrome
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:110	"" []	1150073	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Bardet-Biedl syndrome
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:110	"" []	1150074	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Bardet-Biedl syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:110	"" []	1150075	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Bardet-Biedl syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:110	"" []	1150076	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Bardet-Biedl syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:110	"" []	1150077	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bardet-Biedl syndrome
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:110	"" []	1150078	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Bardet-Biedl syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:110	"" []	1150079	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bardet-Biedl syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:110	"" []	1150080	\N	\N	EFO	3	EFO	Rare genetic renal disease	Bardet-Biedl syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:110	"" []	2032314	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Bardet-Biedl syndrome
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:110	"" []	1150082	\N	\N	EFO	3	EFO	Retinal dystrophy	Bardet-Biedl syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:110	"" []	6370820	\N	\N	EFO	9	EFO	disposition	Bardet-Biedl syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:110	"" []	2032301	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Bardet-Biedl syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:110	"" []	4133215	\N	\N	EFO	6	EFO	genetic disorder	Bardet-Biedl syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:110	"" []	4133216	\N	\N	EFO	6	EFO	eye disease	Bardet-Biedl syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:110	"" []	3182856	\N	\N	EFO	5	EFO	genetic disorder	Bardet-Biedl syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:110	"" []	2032305	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Bardet-Biedl syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:110	"" []	2032306	\N	\N	EFO	4	EFO	Rare genetic male infertility	Bardet-Biedl syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:110	"" []	2032307	\N	\N	EFO	4	EFO	Pituitary deficiency	Bardet-Biedl syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:110	"" []	5410108	\N	\N	EFO	7	EFO	genetic disorder	Bardet-Biedl syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:110	"" []	5410109	\N	\N	EFO	7	EFO	endocrine system disease	Bardet-Biedl syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:110	"" []	2032310	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Bardet-Biedl syndrome
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:110	"" []	2032311	\N	\N	EFO	4	EFO	Rare genetic female infertility	Bardet-Biedl syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:110	"" []	2032312	\N	\N	EFO	4	EFO	genetic disorder	Bardet-Biedl syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:110	"" []	3000113	\N	\N	EFO	5	EFO	Rare genetic eye disease	Bardet-Biedl syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:110	"" []	6762359	\N	\N	EFO	10	EFO	material property	Bardet-Biedl syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:110	"" []	5059554	\N	\N	EFO	7	EFO	disease	Bardet-Biedl syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:110	"" []	3182859	\N	\N	EFO	5	EFO	genetic disorder	Bardet-Biedl syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:110	"" []	3182860	\N	\N	EFO	5	EFO	reproductive system disease	Bardet-Biedl syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:110	"" []	3182861	\N	\N	EFO	5	EFO	Genetic infertility	Bardet-Biedl syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:110	"" []	3182862	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Bardet-Biedl syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:110	"" []	5817445	\N	\N	EFO	8	EFO	disease	Bardet-Biedl syndrome
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:110	"" []	3182864	\N	\N	EFO	5	EFO	Genetic infertility	Bardet-Biedl syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:110	"" []	7015662	\N	\N	EFO	11	EFO	experimental factor	Bardet-Biedl syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:110	"" []	5410107	\N	\N	EFO	7	EFO	disease	Bardet-Biedl syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:110	"" []	4390855	\N	\N	EFO	6	EFO	genetic disorder	Bardet-Biedl syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:110	"" []	4390856	\N	\N	EFO	6	EFO	reproductive system disease	Bardet-Biedl syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:110	"" []	4390857	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Bardet-Biedl syndrome
Orphanet:1101	\N	\N	"" []	Orphanet:1101	"" []	73307	\N	\N	EFO	0	EFO	Anophthalmia - megalocornea - cardiopathy - skeletal anomalies	Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
Orphanet:330206	Orphanet:1101	\N	"" []	Orphanet:1101	"" []	214483	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1101	"" []	568487	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1101	"" []	1150083	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1101	"" []	2032315	\N	\N	EFO	4	EFO	genetic disorder	Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1101	"" []	3182867	\N	\N	EFO	5	EFO	disease	Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1101	"" []	4390858	\N	\N	EFO	6	EFO	disposition	Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1101	"" []	5410110	\N	\N	EFO	7	EFO	material property	Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1101	"" []	6147958	\N	\N	EFO	8	EFO	experimental factor	Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
Orphanet:1104	\N	\N	"Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." []	Orphanet:1104	"Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." []	73308	\N	\N	EFO	0	EFO	Anophthalmia plus syndrome	Anophthalmia plus syndrome
Orphanet:330206	Orphanet:1104	\N	"" []	Orphanet:1104	"Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." []	214484	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Anophthalmia plus syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1104	"Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." []	568488	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Anophthalmia plus syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1104	"Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." []	1150084	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Anophthalmia plus syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1104	"Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." []	2032316	\N	\N	EFO	4	EFO	genetic disorder	Anophthalmia plus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1104	"Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." []	3182868	\N	\N	EFO	5	EFO	disease	Anophthalmia plus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1104	"Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." []	4390859	\N	\N	EFO	6	EFO	disposition	Anophthalmia plus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1104	"Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." []	5410111	\N	\N	EFO	7	EFO	material property	Anophthalmia plus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1104	"Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." []	6147959	\N	\N	EFO	8	EFO	experimental factor	Anophthalmia plus syndrome
Orphanet:1106	\N	\N	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	73309	\N	\N	EFO	0	EFO	Microphthalmia with limb anomalies	Microphthalmia with limb anomalies
Orphanet:108987	Orphanet:1106	\N	"" []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	214485	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Microphthalmia with limb anomalies
Orphanet:330197	Orphanet:1106	\N	"" []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	214486	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Microphthalmia with limb anomalies
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	568489	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Microphthalmia with limb anomalies
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	568490	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microphthalmia with limb anomalies
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	1150085	\N	\N	EFO	3	EFO	Rare genetic eye disease	Microphthalmia with limb anomalies
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	1150086	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia with limb anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	1150087	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia with limb anomalies
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	2032317	\N	\N	EFO	4	EFO	genetic disorder	Microphthalmia with limb anomalies
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	2032318	\N	\N	EFO	4	EFO	eye disease	Microphthalmia with limb anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	2032319	\N	\N	EFO	4	EFO	genetic disorder	Microphthalmia with limb anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	3182869	\N	\N	EFO	5	EFO	disease	Microphthalmia with limb anomalies
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	3182870	\N	\N	EFO	5	EFO	disease	Microphthalmia with limb anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	4390860	\N	\N	EFO	6	EFO	disposition	Microphthalmia with limb anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	5410112	\N	\N	EFO	7	EFO	material property	Microphthalmia with limb anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1106	"Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." []	6147960	\N	\N	EFO	8	EFO	experimental factor	Microphthalmia with limb anomalies
Orphanet:111	\N	\N	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	73310	\N	\N	EFO	0	EFO	Barth syndrome	Barth syndrome
Orphanet:206966	Orphanet:111	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	214487	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Barth syndrome
Orphanet:217613	Orphanet:111	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	214488	\N	\N	EFO	1	EFO	Mitochondrial disease with dilated cardiomyopathy	Barth syndrome
Orphanet:289902	Orphanet:111	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	214489	\N	\N	EFO	1	EFO	3-methylglutaconic aciduria	Barth syndrome
Orphanet:331184	Orphanet:111	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	214490	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Barth syndrome
Orphanet:352312	Orphanet:111	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	214491	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	Barth syndrome
Orphanet:98695	Orphanet:111	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	214492	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	Barth syndrome
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	568491	\N	\N	EFO	2	EFO	Muscular lipidosis	Barth syndrome
Orphanet:217607	Orphanet:217613	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	568492	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Barth syndrome
Orphanet:79163	Orphanet:289902	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	568493	\N	\N	EFO	2	EFO	Classic organic aciduria	Barth syndrome
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	568494	\N	\N	EFO	2	EFO	Constitutional neutropenia	Barth syndrome
Orphanet:352301	Orphanet:352312	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	568495	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Barth syndrome
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	568496	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Barth syndrome
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	1150088	\N	\N	EFO	3	EFO	Metabolic myopathy	Barth syndrome
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	1150089	\N	\N	EFO	3	EFO	cardiomyopathy	Barth syndrome
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	1150090	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Barth syndrome
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	1150091	\N	\N	EFO	3	EFO	Organic aciduria	Barth syndrome
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	1150092	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Barth syndrome
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	1150093	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Barth syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	1150094	\N	\N	EFO	3	EFO	Rare genetic eye disease	Barth syndrome
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	2032320	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Barth syndrome
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	2032321	\N	\N	EFO	4	EFO	heart disease	Barth syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	2032322	\N	\N	EFO	4	EFO	genetic disorder	Barth syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	2032323	\N	\N	EFO	4	EFO	heart disease	Barth syndrome
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	2032324	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Barth syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	2032325	\N	\N	EFO	4	EFO	Primary immunodeficiency	Barth syndrome
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	2032326	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Barth syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	2032327	\N	\N	EFO	4	EFO	genetic disorder	Barth syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	2032328	\N	\N	EFO	4	EFO	eye disease	Barth syndrome
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	3182871	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Barth syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	3182872	\N	\N	EFO	5	EFO	cardiovascular disease	Barth syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	6632022	\N	\N	EFO	9	EFO	disease	Barth syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	3182874	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Barth syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	3182875	\N	\N	EFO	5	EFO	Rare genetic immune disease	Barth syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	4390864	\N	\N	EFO	6	EFO	genetic disorder	Barth syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	4390865	\N	\N	EFO	6	EFO	metabolic disease	Barth syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	3182878	\N	\N	EFO	5	EFO	disease	Barth syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	4390861	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Barth syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	4390862	\N	\N	EFO	6	EFO	disease	Barth syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	6778595	\N	\N	EFO	10	EFO	disposition	Barth syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	4390866	\N	\N	EFO	6	EFO	genetic disorder	Barth syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	4390867	\N	\N	EFO	6	EFO	immune system disease	Barth syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	5181487	\N	\N	EFO	7	EFO	disease	Barth syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	5410113	\N	\N	EFO	7	EFO	muscular disease	Barth syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	5410114	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Barth syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	7029809	\N	\N	EFO	11	EFO	material property	Barth syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	5410116	\N	\N	EFO	7	EFO	disease	Barth syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	6147961	\N	\N	EFO	8	EFO	skeletal system disease	Barth syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	6147962	\N	\N	EFO	8	EFO	genetic disorder	Barth syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	7181743	\N	\N	EFO	12	EFO	experimental factor	Barth syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:111	"Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." []	6632021	\N	\N	EFO	9	EFO	disease	Barth syndrome
Orphanet:1110	\N	\N	"" []	Orphanet:1110	"" []	73311	\N	\N	EFO	0	EFO	Aortic arch anomaly - peculiar facies - intellectual disability	Aortic arch anomaly - peculiar facies - intellectual disability
Orphanet:102283	Orphanet:1110	\N	"" []	Orphanet:1110	"" []	214493	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Aortic arch anomaly - peculiar facies - intellectual disability
Orphanet:183763	Orphanet:1110	\N	"" []	Orphanet:1110	"" []	214494	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Aortic arch anomaly - peculiar facies - intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1110	"" []	568497	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Aortic arch anomaly - peculiar facies - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1110	"" []	568498	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Aortic arch anomaly - peculiar facies - intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1110	"" []	1150095	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Aortic arch anomaly - peculiar facies - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1110	"" []	1150096	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Aortic arch anomaly - peculiar facies - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1110	"" []	2032329	\N	\N	EFO	4	EFO	genetic disorder	Aortic arch anomaly - peculiar facies - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1110	"" []	2032330	\N	\N	EFO	4	EFO	genetic disorder	Aortic arch anomaly - peculiar facies - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1110	"" []	3182879	\N	\N	EFO	5	EFO	disease	Aortic arch anomaly - peculiar facies - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1110	"" []	4390870	\N	\N	EFO	6	EFO	disposition	Aortic arch anomaly - peculiar facies - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1110	"" []	5410117	\N	\N	EFO	7	EFO	material property	Aortic arch anomaly - peculiar facies - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1110	"" []	6147964	\N	\N	EFO	8	EFO	experimental factor	Aortic arch anomaly - peculiar facies - intellectual disability
Orphanet:1112	\N	\N	"" []	Orphanet:1112	"" []	73312	\N	\N	EFO	0	EFO	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
Orphanet:404574	Orphanet:1112	\N	"" []	Orphanet:1112	"" []	214495	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:1112	"" []	568499	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:1112	"" []	568500	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1112	"" []	1150097	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1112	"" []	1150098	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1112	"" []	2032331	\N	\N	EFO	4	EFO	Rare genetic bone disease	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1112	"" []	2032332	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1112	"" []	2032333	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1112	"" []	3182880	\N	\N	EFO	5	EFO	genetic disorder	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1112	"" []	3182881	\N	\N	EFO	5	EFO	bone disease	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1112	"" []	3182882	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1112	"" []	4390873	\N	\N	EFO	6	EFO	genetic disorder	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1112	"" []	5181488	\N	\N	EFO	7	EFO	disease	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1112	"" []	4390872	\N	\N	EFO	6	EFO	skeletal system disease	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1112	"" []	5996867	\N	\N	EFO	8	EFO	disposition	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1112	"" []	5410119	\N	\N	EFO	7	EFO	disease	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1112	"" []	6550476	\N	\N	EFO	9	EFO	material property	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1112	"" []	6889010	\N	\N	EFO	10	EFO	experimental factor	Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
Orphanet:1113	\N	\N	"" []	Orphanet:1113	"" []	73313	\N	\N	EFO	0	EFO	Aphalangy - syndactyly - microcephaly	Aphalangy - syndactyly - microcephaly
Orphanet:294959	Orphanet:1113	\N	"" []	Orphanet:1113	"" []	214496	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Aphalangy - syndactyly - microcephaly
Orphanet:404574	Orphanet:1113	\N	"" []	Orphanet:1113	"" []	214497	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Aphalangy - syndactyly - microcephaly
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:1113	"" []	568501	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Aphalangy - syndactyly - microcephaly
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:1113	"" []	568502	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Aphalangy - syndactyly - microcephaly
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:1113	"" []	568503	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Aphalangy - syndactyly - microcephaly
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:1113	"" []	568504	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Aphalangy - syndactyly - microcephaly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1113	"" []	1150099	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Aphalangy - syndactyly - microcephaly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1113	"" []	1150100	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Aphalangy - syndactyly - microcephaly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1113	"" []	2032334	\N	\N	EFO	4	EFO	Rare genetic bone disease	Aphalangy - syndactyly - microcephaly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1113	"" []	2032335	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Aphalangy - syndactyly - microcephaly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1113	"" []	2032336	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Aphalangy - syndactyly - microcephaly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1113	"" []	3182884	\N	\N	EFO	5	EFO	genetic disorder	Aphalangy - syndactyly - microcephaly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1113	"" []	3182885	\N	\N	EFO	5	EFO	bone disease	Aphalangy - syndactyly - microcephaly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1113	"" []	3182886	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Aphalangy - syndactyly - microcephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1113	"" []	4390876	\N	\N	EFO	6	EFO	genetic disorder	Aphalangy - syndactyly - microcephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1113	"" []	5181489	\N	\N	EFO	7	EFO	disease	Aphalangy - syndactyly - microcephaly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1113	"" []	4390875	\N	\N	EFO	6	EFO	skeletal system disease	Aphalangy - syndactyly - microcephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1113	"" []	5996868	\N	\N	EFO	8	EFO	disposition	Aphalangy - syndactyly - microcephaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1113	"" []	5410121	\N	\N	EFO	7	EFO	disease	Aphalangy - syndactyly - microcephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1113	"" []	6550477	\N	\N	EFO	9	EFO	material property	Aphalangy - syndactyly - microcephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1113	"" []	6889011	\N	\N	EFO	10	EFO	experimental factor	Aphalangy - syndactyly - microcephaly
Orphanet:1114	\N	\N	"" []	Orphanet:1114	"" []	73314	\N	\N	EFO	0	EFO	Circumscribed cutaneous aplasia of the vertex	Circumscribed cutaneous aplasia of the vertex
Orphanet:183481	Orphanet:1114	\N	"" []	Orphanet:1114	"" []	214498	\N	\N	EFO	1	EFO	Genetic mixed dermis disorder	Circumscribed cutaneous aplasia of the vertex
Orphanet:183472	Orphanet:183481	\N	"" []	Orphanet:1114	"" []	568505	\N	\N	EFO	2	EFO	Genetic dermis disorder	Circumscribed cutaneous aplasia of the vertex
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:1114	"" []	1150101	\N	\N	EFO	3	EFO	Rare genetic skin disease	Circumscribed cutaneous aplasia of the vertex
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1114	"" []	2032337	\N	\N	EFO	4	EFO	genetic disorder	Circumscribed cutaneous aplasia of the vertex
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1114	"" []	2032338	\N	\N	EFO	4	EFO	skin disease	Circumscribed cutaneous aplasia of the vertex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1114	"" []	3182888	\N	\N	EFO	5	EFO	disease	Circumscribed cutaneous aplasia of the vertex
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1114	"" []	3182889	\N	\N	EFO	5	EFO	disease	Circumscribed cutaneous aplasia of the vertex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1114	"" []	4390877	\N	\N	EFO	6	EFO	disposition	Circumscribed cutaneous aplasia of the vertex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1114	"" []	5410122	\N	\N	EFO	7	EFO	material property	Circumscribed cutaneous aplasia of the vertex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1114	"" []	6147967	\N	\N	EFO	8	EFO	experimental factor	Circumscribed cutaneous aplasia of the vertex
Orphanet:1115	\N	\N	"" []	Orphanet:1115	"" []	73315	\N	\N	EFO	0	EFO	Recessive aplasia cutis congenita of limbs	Recessive aplasia cutis congenita of limbs
Orphanet:139027	Orphanet:1115	\N	"" []	Orphanet:1115	"" []	214499	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Recessive aplasia cutis congenita of limbs
Orphanet:183481	Orphanet:1115	\N	"" []	Orphanet:1115	"" []	214500	\N	\N	EFO	1	EFO	Genetic mixed dermis disorder	Recessive aplasia cutis congenita of limbs
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1115	"" []	568506	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Recessive aplasia cutis congenita of limbs
Orphanet:183472	Orphanet:183481	\N	"" []	Orphanet:1115	"" []	568507	\N	\N	EFO	2	EFO	Genetic dermis disorder	Recessive aplasia cutis congenita of limbs
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1115	"" []	1150102	\N	\N	EFO	3	EFO	genetic disorder	Recessive aplasia cutis congenita of limbs
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:1115	"" []	1150103	\N	\N	EFO	3	EFO	Rare genetic skin disease	Recessive aplasia cutis congenita of limbs
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1115	"" []	3182891	\N	\N	EFO	5	EFO	disease	Recessive aplasia cutis congenita of limbs
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1115	"" []	2032340	\N	\N	EFO	4	EFO	genetic disorder	Recessive aplasia cutis congenita of limbs
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1115	"" []	2032341	\N	\N	EFO	4	EFO	skin disease	Recessive aplasia cutis congenita of limbs
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1115	"" []	4133217	\N	\N	EFO	6	EFO	disposition	Recessive aplasia cutis congenita of limbs
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1115	"" []	3182892	\N	\N	EFO	5	EFO	disease	Recessive aplasia cutis congenita of limbs
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1115	"" []	5181490	\N	\N	EFO	7	EFO	material property	Recessive aplasia cutis congenita of limbs
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1115	"" []	5996869	\N	\N	EFO	8	EFO	experimental factor	Recessive aplasia cutis congenita of limbs
Orphanet:1116	\N	\N	"" []	Orphanet:1116	"" []	73316	\N	\N	EFO	0	EFO	Aplasia cutis congenita - intestinal lymphangiectasia	Aplasia cutis congenita - intestinal lymphangiectasia
Orphanet:139027	Orphanet:1116	\N	"" []	Orphanet:1116	"" []	214501	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Aplasia cutis congenita - intestinal lymphangiectasia
Orphanet:165655	Orphanet:1116	\N	"" []	Orphanet:1116	"" []	214502	\N	\N	EFO	1	EFO	Genetic intestinal disease	Aplasia cutis congenita - intestinal lymphangiectasia
Orphanet:183481	Orphanet:1116	\N	"" []	Orphanet:1116	"" []	214503	\N	\N	EFO	1	EFO	Genetic mixed dermis disorder	Aplasia cutis congenita - intestinal lymphangiectasia
Orphanet:89832	Orphanet:1116	\N	"" []	Orphanet:1116	"" []	214504	\N	\N	EFO	1	EFO	Syndromic lymphedema	Aplasia cutis congenita - intestinal lymphangiectasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1116	"" []	568508	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Aplasia cutis congenita - intestinal lymphangiectasia
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:1116	"" []	568509	\N	\N	EFO	2	EFO	digestive system disease	Aplasia cutis congenita - intestinal lymphangiectasia
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:1116	"" []	568510	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Aplasia cutis congenita - intestinal lymphangiectasia
Orphanet:183472	Orphanet:183481	\N	"" []	Orphanet:1116	"" []	568511	\N	\N	EFO	2	EFO	Genetic dermis disorder	Aplasia cutis congenita - intestinal lymphangiectasia
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:1116	"" []	568512	\N	\N	EFO	2	EFO	Lymphedema	Aplasia cutis congenita - intestinal lymphangiectasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1116	"" []	1150104	\N	\N	EFO	3	EFO	genetic disorder	Aplasia cutis congenita - intestinal lymphangiectasia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1116	"" []	1150105	\N	\N	EFO	3	EFO	disease	Aplasia cutis congenita - intestinal lymphangiectasia
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1116	"" []	1150106	\N	\N	EFO	3	EFO	genetic disorder	Aplasia cutis congenita - intestinal lymphangiectasia
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:1116	"" []	1150107	\N	\N	EFO	3	EFO	Rare genetic skin disease	Aplasia cutis congenita - intestinal lymphangiectasia
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:1116	"" []	1150108	\N	\N	EFO	3	EFO	Rare genetic skin disease	Aplasia cutis congenita - intestinal lymphangiectasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1116	"" []	3182895	\N	\N	EFO	5	EFO	disease	Aplasia cutis congenita - intestinal lymphangiectasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1116	"" []	4133218	\N	\N	EFO	6	EFO	disposition	Aplasia cutis congenita - intestinal lymphangiectasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1116	"" []	2032344	\N	\N	EFO	4	EFO	genetic disorder	Aplasia cutis congenita - intestinal lymphangiectasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1116	"" []	2032345	\N	\N	EFO	4	EFO	skin disease	Aplasia cutis congenita - intestinal lymphangiectasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1116	"" []	5059555	\N	\N	EFO	7	EFO	material property	Aplasia cutis congenita - intestinal lymphangiectasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1116	"" []	3182896	\N	\N	EFO	5	EFO	disease	Aplasia cutis congenita - intestinal lymphangiectasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1116	"" []	5876707	\N	\N	EFO	8	EFO	experimental factor	Aplasia cutis congenita - intestinal lymphangiectasia
Orphanet:1117	\N	\N	"" []	Orphanet:1117	"" []	73317	\N	\N	EFO	0	EFO	Aplasia cutis - myopia	Aplasia cutis - myopia
Orphanet:139027	Orphanet:1117	\N	"" []	Orphanet:1117	"" []	214505	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Aplasia cutis - myopia
Orphanet:183481	Orphanet:1117	\N	"" []	Orphanet:1117	"" []	214506	\N	\N	EFO	1	EFO	Genetic mixed dermis disorder	Aplasia cutis - myopia
Orphanet:98620	Orphanet:1117	\N	"" []	Orphanet:1117	"" []	214507	\N	\N	EFO	1	EFO	Syndromic myopia	Aplasia cutis - myopia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1117	"" []	568513	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Aplasia cutis - myopia
Orphanet:183472	Orphanet:183481	\N	"" []	Orphanet:1117	"" []	568514	\N	\N	EFO	2	EFO	Genetic dermis disorder	Aplasia cutis - myopia
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:1117	"" []	568515	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	Aplasia cutis - myopia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1117	"" []	1150109	\N	\N	EFO	3	EFO	genetic disorder	Aplasia cutis - myopia
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:1117	"" []	1150110	\N	\N	EFO	3	EFO	Rare genetic skin disease	Aplasia cutis - myopia
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:1117	"" []	1150111	\N	\N	EFO	3	EFO	Rare genetic eye disease	Aplasia cutis - myopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1117	"" []	3182898	\N	\N	EFO	5	EFO	disease	Aplasia cutis - myopia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1117	"" []	2032347	\N	\N	EFO	4	EFO	genetic disorder	Aplasia cutis - myopia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1117	"" []	2032348	\N	\N	EFO	4	EFO	skin disease	Aplasia cutis - myopia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1117	"" []	2032349	\N	\N	EFO	4	EFO	genetic disorder	Aplasia cutis - myopia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1117	"" []	2032350	\N	\N	EFO	4	EFO	eye disease	Aplasia cutis - myopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1117	"" []	4133220	\N	\N	EFO	6	EFO	disposition	Aplasia cutis - myopia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1117	"" []	3182899	\N	\N	EFO	5	EFO	disease	Aplasia cutis - myopia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1117	"" []	3182900	\N	\N	EFO	5	EFO	disease	Aplasia cutis - myopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1117	"" []	5181492	\N	\N	EFO	7	EFO	material property	Aplasia cutis - myopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1117	"" []	5996870	\N	\N	EFO	8	EFO	experimental factor	Aplasia cutis - myopia
Orphanet:1118	\N	\N	"" []	Orphanet:1118	"" []	73318	\N	\N	EFO	0	EFO	Fibular aplasia - ectrodactyly	Fibular aplasia - ectrodactyly
Orphanet:294957	Orphanet:1118	\N	"" []	Orphanet:1118	"" []	214508	\N	\N	EFO	1	EFO	Dysostosis with combined reduction defects of upper and lower limbs	Fibular aplasia - ectrodactyly
Orphanet:404571	Orphanet:294957	\N	"" []	Orphanet:1118	"" []	568516	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Fibular aplasia - ectrodactyly
Orphanet:404577	Orphanet:294957	\N	"" []	Orphanet:1118	"" []	568517	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Fibular aplasia - ectrodactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1118	"" []	1150112	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Fibular aplasia - ectrodactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1118	"" []	1150113	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Fibular aplasia - ectrodactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1118	"" []	2032351	\N	\N	EFO	4	EFO	Rare genetic bone disease	Fibular aplasia - ectrodactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1118	"" []	2032352	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Fibular aplasia - ectrodactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1118	"" []	2032353	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Fibular aplasia - ectrodactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1118	"" []	3182901	\N	\N	EFO	5	EFO	genetic disorder	Fibular aplasia - ectrodactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1118	"" []	3182902	\N	\N	EFO	5	EFO	bone disease	Fibular aplasia - ectrodactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1118	"" []	3182903	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Fibular aplasia - ectrodactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1118	"" []	4390883	\N	\N	EFO	6	EFO	genetic disorder	Fibular aplasia - ectrodactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1118	"" []	5181493	\N	\N	EFO	7	EFO	disease	Fibular aplasia - ectrodactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1118	"" []	4390882	\N	\N	EFO	6	EFO	skeletal system disease	Fibular aplasia - ectrodactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1118	"" []	5996871	\N	\N	EFO	8	EFO	disposition	Fibular aplasia - ectrodactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1118	"" []	5410126	\N	\N	EFO	7	EFO	disease	Fibular aplasia - ectrodactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1118	"" []	6550478	\N	\N	EFO	9	EFO	material property	Fibular aplasia - ectrodactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1118	"" []	6889012	\N	\N	EFO	10	EFO	experimental factor	Fibular aplasia - ectrodactyly
Orphanet:112	\N	\N	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	Orphanet:112	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	73319	\N	\N	EFO	0	EFO	Bartter syndrome	Bartter syndrome
Orphanet:183592	Orphanet:112	\N	"" []	Orphanet:112	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	214509	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Bartter syndrome
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:112	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	568518	\N	\N	EFO	2	EFO	Rare genetic renal disease	Bartter syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:112	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	1150114	\N	\N	EFO	3	EFO	genetic disorder	Bartter syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:112	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	2032354	\N	\N	EFO	4	EFO	disease	Bartter syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:112	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	3182905	\N	\N	EFO	5	EFO	disposition	Bartter syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:112	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	4390884	\N	\N	EFO	6	EFO	material property	Bartter syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:112	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	5410127	\N	\N	EFO	7	EFO	experimental factor	Bartter syndrome
Orphanet:1120	\N	\N	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	73320	\N	\N	EFO	0	EFO	Lung agenesis - heart defect - thumb anomalies	Lung agenesis - heart defect - thumb anomalies
Orphanet:108993	Orphanet:1120	\N	"" []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	214510	\N	\N	EFO	1	EFO	Non-syndromic respiratory or mediastinal malformation	Lung agenesis - heart defect - thumb anomalies
Orphanet:183622	Orphanet:1120	\N	"" []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	214511	\N	\N	EFO	1	EFO	Genetic respiratory malformation	Lung agenesis - heart defect - thumb anomalies
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	568519	\N	\N	EFO	2	EFO	Genetic respiratory or mediastinal malformation	Lung agenesis - heart defect - thumb anomalies
Orphanet:156610	Orphanet:183622	\N	"" []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	568520	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Lung agenesis - heart defect - thumb anomalies
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	1150115	\N	\N	EFO	3	EFO	respiratory system disease	Lung agenesis - heart defect - thumb anomalies
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	1150116	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lung agenesis - heart defect - thumb anomalies
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	1150117	\N	\N	EFO	3	EFO	genetic disorder	Lung agenesis - heart defect - thumb anomalies
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	1150118	\N	\N	EFO	3	EFO	respiratory system disease	Lung agenesis - heart defect - thumb anomalies
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	2032355	\N	\N	EFO	4	EFO	disease	Lung agenesis - heart defect - thumb anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	2032356	\N	\N	EFO	4	EFO	genetic disorder	Lung agenesis - heart defect - thumb anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	3182907	\N	\N	EFO	5	EFO	disease	Lung agenesis - heart defect - thumb anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	4133221	\N	\N	EFO	6	EFO	disposition	Lung agenesis - heart defect - thumb anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	5181494	\N	\N	EFO	7	EFO	material property	Lung agenesis - heart defect - thumb anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1120	"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." []	5996872	\N	\N	EFO	8	EFO	experimental factor	Lung agenesis - heart defect - thumb anomalies
Orphanet:1121	\N	\N	"" []	Orphanet:1121	"" []	73321	\N	\N	EFO	0	EFO	Radial deficiency - tibial hypoplasia	Radial deficiency - tibial hypoplasia
Orphanet:294957	Orphanet:1121	\N	"" []	Orphanet:1121	"" []	214512	\N	\N	EFO	1	EFO	Dysostosis with combined reduction defects of upper and lower limbs	Radial deficiency - tibial hypoplasia
Orphanet:404571	Orphanet:294957	\N	"" []	Orphanet:1121	"" []	568521	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Radial deficiency - tibial hypoplasia
Orphanet:404577	Orphanet:294957	\N	"" []	Orphanet:1121	"" []	568522	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Radial deficiency - tibial hypoplasia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1121	"" []	1150119	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Radial deficiency - tibial hypoplasia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1121	"" []	1150120	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Radial deficiency - tibial hypoplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1121	"" []	2032358	\N	\N	EFO	4	EFO	Rare genetic bone disease	Radial deficiency - tibial hypoplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1121	"" []	2032359	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Radial deficiency - tibial hypoplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1121	"" []	2032360	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Radial deficiency - tibial hypoplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1121	"" []	3182908	\N	\N	EFO	5	EFO	genetic disorder	Radial deficiency - tibial hypoplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1121	"" []	3182909	\N	\N	EFO	5	EFO	bone disease	Radial deficiency - tibial hypoplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1121	"" []	3182910	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Radial deficiency - tibial hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1121	"" []	4390888	\N	\N	EFO	6	EFO	genetic disorder	Radial deficiency - tibial hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1121	"" []	5181495	\N	\N	EFO	7	EFO	disease	Radial deficiency - tibial hypoplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1121	"" []	4390887	\N	\N	EFO	6	EFO	skeletal system disease	Radial deficiency - tibial hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1121	"" []	5996873	\N	\N	EFO	8	EFO	disposition	Radial deficiency - tibial hypoplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1121	"" []	5410130	\N	\N	EFO	7	EFO	disease	Radial deficiency - tibial hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1121	"" []	6550479	\N	\N	EFO	9	EFO	material property	Radial deficiency - tibial hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1121	"" []	6889013	\N	\N	EFO	10	EFO	experimental factor	Radial deficiency - tibial hypoplasia
Orphanet:1122	\N	\N	"" []	Orphanet:1122	"" []	73322	\N	\N	EFO	0	EFO	Ulnar hypoplasia - split foot	Ulnar hypoplasia - split foot
Orphanet:294957	Orphanet:1122	\N	"" []	Orphanet:1122	"" []	214513	\N	\N	EFO	1	EFO	Dysostosis with combined reduction defects of upper and lower limbs	Ulnar hypoplasia - split foot
Orphanet:404571	Orphanet:294957	\N	"" []	Orphanet:1122	"" []	568523	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Ulnar hypoplasia - split foot
Orphanet:404577	Orphanet:294957	\N	"" []	Orphanet:1122	"" []	568524	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Ulnar hypoplasia - split foot
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1122	"" []	1150121	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Ulnar hypoplasia - split foot
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1122	"" []	1150122	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Ulnar hypoplasia - split foot
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1122	"" []	2032361	\N	\N	EFO	4	EFO	Rare genetic bone disease	Ulnar hypoplasia - split foot
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1122	"" []	2032362	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Ulnar hypoplasia - split foot
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1122	"" []	2032363	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ulnar hypoplasia - split foot
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1122	"" []	3182912	\N	\N	EFO	5	EFO	genetic disorder	Ulnar hypoplasia - split foot
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1122	"" []	3182913	\N	\N	EFO	5	EFO	bone disease	Ulnar hypoplasia - split foot
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1122	"" []	3182914	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ulnar hypoplasia - split foot
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1122	"" []	4390891	\N	\N	EFO	6	EFO	genetic disorder	Ulnar hypoplasia - split foot
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1122	"" []	5181496	\N	\N	EFO	7	EFO	disease	Ulnar hypoplasia - split foot
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1122	"" []	4390890	\N	\N	EFO	6	EFO	skeletal system disease	Ulnar hypoplasia - split foot
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1122	"" []	5996874	\N	\N	EFO	8	EFO	disposition	Ulnar hypoplasia - split foot
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1122	"" []	5410132	\N	\N	EFO	7	EFO	disease	Ulnar hypoplasia - split foot
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1122	"" []	6550480	\N	\N	EFO	9	EFO	material property	Ulnar hypoplasia - split foot
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1122	"" []	6889014	\N	\N	EFO	10	EFO	experimental factor	Ulnar hypoplasia - split foot
Orphanet:1123	\N	\N	"" []	Orphanet:1123	"" []	73323	\N	\N	EFO	0	EFO	Caudal appendage - deafness	Caudal appendage - deafness
Orphanet:102283	Orphanet:1123	\N	"" []	Orphanet:1123	"" []	214514	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Caudal appendage - deafness
Orphanet:183763	Orphanet:1123	\N	"" []	Orphanet:1123	"" []	214515	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Caudal appendage - deafness
Orphanet:90642	Orphanet:1123	\N	"" []	Orphanet:1123	"" []	214516	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Caudal appendage - deafness
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1123	"" []	568525	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Caudal appendage - deafness
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1123	"" []	568526	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Caudal appendage - deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1123	"" []	568527	\N	\N	EFO	2	EFO	Rare genetic deafness	Caudal appendage - deafness
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1123	"" []	1150123	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Caudal appendage - deafness
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1123	"" []	1150124	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Caudal appendage - deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1123	"" []	1150125	\N	\N	EFO	3	EFO	genetic disorder	Caudal appendage - deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1123	"" []	1150126	\N	\N	EFO	3	EFO	auditory system disease	Caudal appendage - deafness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1123	"" []	2032364	\N	\N	EFO	4	EFO	genetic disorder	Caudal appendage - deafness
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1123	"" []	2032365	\N	\N	EFO	4	EFO	genetic disorder	Caudal appendage - deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1123	"" []	3182916	\N	\N	EFO	5	EFO	disease	Caudal appendage - deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1123	"" []	2032367	\N	\N	EFO	4	EFO	sensory system disease	Caudal appendage - deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1123	"" []	5410134	\N	\N	EFO	7	EFO	disposition	Caudal appendage - deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1123	"" []	3182918	\N	\N	EFO	5	EFO	nervous system disease	Caudal appendage - deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1123	"" []	5876708	\N	\N	EFO	8	EFO	material property	Caudal appendage - deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1123	"" []	4390893	\N	\N	EFO	6	EFO	disease	Caudal appendage - deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1123	"" []	6469919	\N	\N	EFO	9	EFO	experimental factor	Caudal appendage - deafness
Orphanet:1125	\N	\N	"" []	Orphanet:1125	"" []	73324	\N	\N	EFO	0	EFO	Ocular motor apraxia, Cogan type	Ocular motor apraxia, Cogan type
Orphanet:98688	Orphanet:1125	\N	"" []	Orphanet:1125	"" []	214517	\N	\N	EFO	1	EFO	Oculomotor apraxia or related oculomotor disease	Ocular motor apraxia, Cogan type
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:1125	"" []	568528	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Ocular motor apraxia, Cogan type
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:1125	"" []	1150127	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ocular motor apraxia, Cogan type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1125	"" []	2032368	\N	\N	EFO	4	EFO	genetic disorder	Ocular motor apraxia, Cogan type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1125	"" []	2032369	\N	\N	EFO	4	EFO	eye disease	Ocular motor apraxia, Cogan type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1125	"" []	3182919	\N	\N	EFO	5	EFO	disease	Ocular motor apraxia, Cogan type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1125	"" []	3182920	\N	\N	EFO	5	EFO	disease	Ocular motor apraxia, Cogan type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1125	"" []	4390894	\N	\N	EFO	6	EFO	disposition	Ocular motor apraxia, Cogan type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1125	"" []	5410135	\N	\N	EFO	7	EFO	material property	Ocular motor apraxia, Cogan type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1125	"" []	6147971	\N	\N	EFO	8	EFO	experimental factor	Ocular motor apraxia, Cogan type
Orphanet:1126	\N	\N	"" []	Orphanet:1126	"" []	73325	\N	\N	EFO	0	EFO	Aprosencephaly cerebellar dysgenesis	Aprosencephaly cerebellar dysgenesis
Orphanet:268926	Orphanet:1126	\N	"" []	Orphanet:1126	"" []	214518	\N	\N	EFO	1	EFO	Midline cerebral malformation	Aprosencephaly cerebellar dysgenesis
Orphanet:269553	Orphanet:268926	\N	"" []	Orphanet:1126	"" []	568529	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Aprosencephaly cerebellar dysgenesis
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:1126	"" []	1150128	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Aprosencephaly cerebellar dysgenesis
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:1126	"" []	2032370	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Aprosencephaly cerebellar dysgenesis
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1126	"" []	3182921	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Aprosencephaly cerebellar dysgenesis
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1126	"" []	3182922	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Aprosencephaly cerebellar dysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1126	"" []	4390895	\N	\N	EFO	6	EFO	genetic disorder	Aprosencephaly cerebellar dysgenesis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1126	"" []	4390896	\N	\N	EFO	6	EFO	genetic disorder	Aprosencephaly cerebellar dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1126	"" []	5410136	\N	\N	EFO	7	EFO	disease	Aprosencephaly cerebellar dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1126	"" []	6147972	\N	\N	EFO	8	EFO	disposition	Aprosencephaly cerebellar dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1126	"" []	6632028	\N	\N	EFO	9	EFO	material property	Aprosencephaly cerebellar dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1126	"" []	6925379	\N	\N	EFO	10	EFO	experimental factor	Aprosencephaly cerebellar dysgenesis
Orphanet:1129	\N	\N	"" []	Orphanet:1129	"" []	73326	\N	\N	EFO	0	EFO	Arachnodactyly - abnormal ossification - intellectual disability	Arachnodactyly - abnormal ossification - intellectual disability
Orphanet:102283	Orphanet:1129	\N	"" []	Orphanet:1129	"" []	214519	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Arachnodactyly - abnormal ossification - intellectual disability
Orphanet:183763	Orphanet:1129	\N	"" []	Orphanet:1129	"" []	214520	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Arachnodactyly - abnormal ossification - intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1129	"" []	568530	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Arachnodactyly - abnormal ossification - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1129	"" []	568531	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Arachnodactyly - abnormal ossification - intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1129	"" []	1150129	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Arachnodactyly - abnormal ossification - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1129	"" []	1150130	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Arachnodactyly - abnormal ossification - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1129	"" []	2032371	\N	\N	EFO	4	EFO	genetic disorder	Arachnodactyly - abnormal ossification - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1129	"" []	2032372	\N	\N	EFO	4	EFO	genetic disorder	Arachnodactyly - abnormal ossification - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1129	"" []	3182923	\N	\N	EFO	5	EFO	disease	Arachnodactyly - abnormal ossification - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1129	"" []	4390897	\N	\N	EFO	6	EFO	disposition	Arachnodactyly - abnormal ossification - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1129	"" []	5410137	\N	\N	EFO	7	EFO	material property	Arachnodactyly - abnormal ossification - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1129	"" []	6147973	\N	\N	EFO	8	EFO	experimental factor	Arachnodactyly - abnormal ossification - intellectual disability
Orphanet:113	\N	\N	"" []	Orphanet:113	"" []	73327	\N	\N	EFO	0	EFO	Bazex-Dupr-Christol syndrome	Bazex-Dupr-Christol syndrome
Orphanet:139027	Orphanet:113	\N	"" []	Orphanet:113	"" []	214521	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Bazex-Dupr-Christol syndrome
Orphanet:183487	Orphanet:113	\N	"" []	Orphanet:113	"" []	214522	\N	\N	EFO	1	EFO	Genetic skin tumor	Bazex-Dupr-Christol syndrome
Orphanet:98584	Orphanet:113	\N	"" []	Orphanet:113	"" []	214523	\N	\N	EFO	1	EFO	Malignant tumor of palpebral epidermis	Bazex-Dupr-Christol syndrome
Orphanet:98598	Orphanet:113	\N	"" []	Orphanet:113	"" []	214524	\N	\N	EFO	1	EFO	Congenital absence of the eyebrow/eyelashes	Bazex-Dupr-Christol syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:113	"" []	568532	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Bazex-Dupr-Christol syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:113	"" []	568533	\N	\N	EFO	2	EFO	skin neoplasm	Bazex-Dupr-Christol syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:113	"" []	568534	\N	\N	EFO	2	EFO	Rare genetic tumor	Bazex-Dupr-Christol syndrome
Orphanet:98580	Orphanet:98584	\N	"" []	Orphanet:113	"" []	568535	\N	\N	EFO	2	EFO	Palpebral tumor	Bazex-Dupr-Christol syndrome
Orphanet:98594	Orphanet:98598	\N	"" []	Orphanet:113	"" []	568536	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Bazex-Dupr-Christol syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:113	"" []	1150131	\N	\N	EFO	3	EFO	genetic disorder	Bazex-Dupr-Christol syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:113	"" []	1150132	\N	\N	EFO	3	EFO	neoplasm	Bazex-Dupr-Christol syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:113	"" []	1150133	\N	\N	EFO	3	EFO	skin disease	Bazex-Dupr-Christol syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:113	"" []	1150134	\N	\N	EFO	3	EFO	genetic disorder	Bazex-Dupr-Christol syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:113	"" []	1150135	\N	\N	EFO	3	EFO	neoplasm	Bazex-Dupr-Christol syndrome
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:113	"" []	1150136	\N	\N	EFO	3	EFO	Rare palpebral disease	Bazex-Dupr-Christol syndrome
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:113	"" []	1150137	\N	\N	EFO	3	EFO	Rare palpebral disease	Bazex-Dupr-Christol syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:113	"" []	5410139	\N	\N	EFO	7	EFO	disease	Bazex-Dupr-Christol syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:113	"" []	2032374	\N	\N	EFO	4	EFO	disease	Bazex-Dupr-Christol syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:113	"" []	2032375	\N	\N	EFO	4	EFO	disease	Bazex-Dupr-Christol syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:113	"" []	2032376	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Bazex-Dupr-Christol syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:113	"" []	5817446	\N	\N	EFO	8	EFO	disposition	Bazex-Dupr-Christol syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:113	"" []	3182925	\N	\N	EFO	5	EFO	Rare genetic eye disease	Bazex-Dupr-Christol syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:113	"" []	6409801	\N	\N	EFO	9	EFO	material property	Bazex-Dupr-Christol syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:113	"" []	4390899	\N	\N	EFO	6	EFO	genetic disorder	Bazex-Dupr-Christol syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:113	"" []	4390900	\N	\N	EFO	6	EFO	eye disease	Bazex-Dupr-Christol syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:113	"" []	6807658	\N	\N	EFO	10	EFO	experimental factor	Bazex-Dupr-Christol syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:113	"" []	5410140	\N	\N	EFO	7	EFO	disease	Bazex-Dupr-Christol syndrome
Orphanet:1130	\N	\N	"" []	Orphanet:1130	"" []	73328	\N	\N	EFO	0	EFO	Arachnodactyly - intellectual disability - dysmorphism	Arachnodactyly - intellectual disability - dysmorphism
Orphanet:330197	Orphanet:1130	\N	"" []	Orphanet:1130	"" []	214525	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Arachnodactyly - intellectual disability - dysmorphism
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1130	"" []	568537	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Arachnodactyly - intellectual disability - dysmorphism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1130	"" []	1150138	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Arachnodactyly - intellectual disability - dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1130	"" []	2032377	\N	\N	EFO	4	EFO	genetic disorder	Arachnodactyly - intellectual disability - dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1130	"" []	3182926	\N	\N	EFO	5	EFO	disease	Arachnodactyly - intellectual disability - dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1130	"" []	4390901	\N	\N	EFO	6	EFO	disposition	Arachnodactyly - intellectual disability - dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1130	"" []	5410141	\N	\N	EFO	7	EFO	material property	Arachnodactyly - intellectual disability - dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1130	"" []	6147974	\N	\N	EFO	8	EFO	experimental factor	Arachnodactyly - intellectual disability - dysmorphism
Orphanet:1131	\N	\N	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	73329	\N	\N	EFO	0	EFO	X-linked mandibulofacial dysostosis	X-linked mandibulofacial dysostosis
Orphanet:102283	Orphanet:1131	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	214526	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked mandibulofacial dysostosis
Orphanet:183576	Orphanet:1131	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	214527	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	X-linked mandibulofacial dysostosis
Orphanet:364574	Orphanet:1131	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	214528	\N	\N	EFO	1	EFO	Acrofacial dysostosis	X-linked mandibulofacial dysostosis
Orphanet:98464	Orphanet:1131	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	214529	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked mandibulofacial dysostosis
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	568538	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked mandibulofacial dysostosis
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	568539	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	X-linked mandibulofacial dysostosis
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	568540	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	X-linked mandibulofacial dysostosis
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	568541	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	X-linked mandibulofacial dysostosis
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	568542	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked mandibulofacial dysostosis
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	1150139	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked mandibulofacial dysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	5410144	\N	\N	EFO	7	EFO	genetic disorder	X-linked mandibulofacial dysostosis
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	1150141	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	X-linked mandibulofacial dysostosis
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	1150142	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	X-linked mandibulofacial dysostosis
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	1150143	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	X-linked mandibulofacial dysostosis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	1150144	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked mandibulofacial dysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	5801836	\N	\N	EFO	8	EFO	disease	X-linked mandibulofacial dysostosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	2032380	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	X-linked mandibulofacial dysostosis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	2032381	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	X-linked mandibulofacial dysostosis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	2032382	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked mandibulofacial dysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	6378802	\N	\N	EFO	9	EFO	disposition	X-linked mandibulofacial dysostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	3182928	\N	\N	EFO	5	EFO	Rare genetic bone disease	X-linked mandibulofacial dysostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	3182929	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	X-linked mandibulofacial dysostosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	3182930	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked mandibulofacial dysostosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	3182931	\N	\N	EFO	5	EFO	genetic disorder	X-linked mandibulofacial dysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	6778596	\N	\N	EFO	10	EFO	material property	X-linked mandibulofacial dysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	4390903	\N	\N	EFO	6	EFO	genetic disorder	X-linked mandibulofacial dysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	4390904	\N	\N	EFO	6	EFO	bone disease	X-linked mandibulofacial dysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	4390905	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	X-linked mandibulofacial dysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	7029810	\N	\N	EFO	11	EFO	experimental factor	X-linked mandibulofacial dysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	5410143	\N	\N	EFO	7	EFO	skeletal system disease	X-linked mandibulofacial dysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1131	"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." []	6147975	\N	\N	EFO	8	EFO	disease	X-linked mandibulofacial dysostosis
Orphanet:1133	\N	\N	"" []	Orphanet:1133	"" []	73330	\N	\N	EFO	0	EFO	AREDYLD syndrome	AREDYLD syndrome
Orphanet:183625	Orphanet:1133	\N	"" []	Orphanet:1133	"" []	214530	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	AREDYLD syndrome
Orphanet:79373	Orphanet:1133	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1133	"" []	214531	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	AREDYLD syndrome
Orphanet:93547	Orphanet:1133	\N	"" []	Orphanet:1133	"" []	214532	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	AREDYLD syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:1133	"" []	568543	\N	\N	EFO	2	EFO	diabetes mellitus	AREDYLD syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:1133	"" []	568544	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	AREDYLD syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1133	"" []	568545	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	AREDYLD syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1133	"" []	568546	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	AREDYLD syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1133	"" []	568547	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	AREDYLD syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1133	"" []	1150145	\N	\N	EFO	3	EFO	metabolic disease	AREDYLD syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1133	"" []	1150146	\N	\N	EFO	3	EFO	genetic disorder	AREDYLD syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1133	"" []	1150147	\N	\N	EFO	3	EFO	endocrine system disease	AREDYLD syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1133	"" []	1150148	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	AREDYLD syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1133	"" []	1150149	\N	\N	EFO	3	EFO	Rare genetic skin disease	AREDYLD syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1133	"" []	1150150	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	AREDYLD syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1133	"" []	1150151	\N	\N	EFO	3	EFO	Rare genetic renal disease	AREDYLD syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1133	"" []	2032383	\N	\N	EFO	4	EFO	disease	AREDYLD syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1133	"" []	3182933	\N	\N	EFO	5	EFO	disease	AREDYLD syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1133	"" []	2032385	\N	\N	EFO	4	EFO	disease	AREDYLD syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1133	"" []	2032386	\N	\N	EFO	4	EFO	genetic disorder	AREDYLD syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1133	"" []	2032387	\N	\N	EFO	4	EFO	genetic disorder	AREDYLD syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1133	"" []	2032388	\N	\N	EFO	4	EFO	skin disease	AREDYLD syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1133	"" []	2032389	\N	\N	EFO	4	EFO	genetic disorder	AREDYLD syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1133	"" []	4133224	\N	\N	EFO	6	EFO	disposition	AREDYLD syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1133	"" []	3182934	\N	\N	EFO	5	EFO	disease	AREDYLD syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1133	"" []	5181499	\N	\N	EFO	7	EFO	material property	AREDYLD syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1133	"" []	5996877	\N	\N	EFO	8	EFO	experimental factor	AREDYLD syndrome
Orphanet:1135	\N	\N	"" []	Orphanet:1135	"" []	73331	\N	\N	EFO	0	EFO	Arrhinia - choanal atresia - microphthalmia	Arrhinia - choanal atresia - microphthalmia
Orphanet:330206	Orphanet:1135	\N	"" []	Orphanet:1135	"" []	214533	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Arrhinia - choanal atresia - microphthalmia
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1135	"" []	568548	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Arrhinia - choanal atresia - microphthalmia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1135	"" []	1150152	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Arrhinia - choanal atresia - microphthalmia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1135	"" []	2032390	\N	\N	EFO	4	EFO	genetic disorder	Arrhinia - choanal atresia - microphthalmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1135	"" []	3182935	\N	\N	EFO	5	EFO	disease	Arrhinia - choanal atresia - microphthalmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1135	"" []	4390909	\N	\N	EFO	6	EFO	disposition	Arrhinia - choanal atresia - microphthalmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1135	"" []	5410146	\N	\N	EFO	7	EFO	material property	Arrhinia - choanal atresia - microphthalmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1135	"" []	6147976	\N	\N	EFO	8	EFO	experimental factor	Arrhinia - choanal atresia - microphthalmia
Orphanet:1136	\N	\N	"" []	Orphanet:1136	"" []	73332	\N	\N	EFO	0	EFO	Arnold-Chiari malformation type II	Arnold-Chiari malformation type II
Orphanet:268744	Orphanet:1136	\N	"" []	Orphanet:1136	"" []	214534	\N	\N	EFO	1	EFO	Spina bifida cystica	Arnold-Chiari malformation type II
Orphanet:823	Orphanet:268744	\N	"" []	Orphanet:1136	"" []	568549	\N	\N	EFO	2	EFO	Isolated spina bifida	Arnold-Chiari malformation type II
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:1136	"" []	1150153	\N	\N	EFO	3	EFO	Neural tube closure defect	Arnold-Chiari malformation type II
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:1136	"" []	2032391	\N	\N	EFO	4	EFO	Neural tube defect	Arnold-Chiari malformation type II
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:1136	"" []	3182936	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Arnold-Chiari malformation type II
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:1136	"" []	4390910	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Arnold-Chiari malformation type II
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1136	"" []	5410147	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Arnold-Chiari malformation type II
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1136	"" []	5410148	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Arnold-Chiari malformation type II
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1136	"" []	6147977	\N	\N	EFO	8	EFO	genetic disorder	Arnold-Chiari malformation type II
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1136	"" []	6147978	\N	\N	EFO	8	EFO	genetic disorder	Arnold-Chiari malformation type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1136	"" []	6632029	\N	\N	EFO	9	EFO	disease	Arnold-Chiari malformation type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1136	"" []	6925380	\N	\N	EFO	10	EFO	disposition	Arnold-Chiari malformation type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1136	"" []	7099004	\N	\N	EFO	11	EFO	material property	Arnold-Chiari malformation type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1136	"" []	7208289	\N	\N	EFO	12	EFO	experimental factor	Arnold-Chiari malformation type II
Orphanet:114	\N	\N	"" []	Orphanet:114	"" []	73333	\N	\N	EFO	0	EFO	Auriculoosteodysplasia	Auriculoosteodysplasia
Orphanet:93441	Orphanet:114	\N	"" []	Orphanet:114	"" []	214535	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Auriculoosteodysplasia
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:114	"" []	568550	\N	\N	EFO	2	EFO	Primary bone dysplasia	Auriculoosteodysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:114	"" []	1150154	\N	\N	EFO	3	EFO	Rare genetic bone disease	Auriculoosteodysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:114	"" []	1150155	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Auriculoosteodysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:114	"" []	2032392	\N	\N	EFO	4	EFO	genetic disorder	Auriculoosteodysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:114	"" []	2032393	\N	\N	EFO	4	EFO	bone disease	Auriculoosteodysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:114	"" []	2032394	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Auriculoosteodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:114	"" []	4390913	\N	\N	EFO	6	EFO	disease	Auriculoosteodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:114	"" []	3182938	\N	\N	EFO	5	EFO	skeletal system disease	Auriculoosteodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:114	"" []	3182939	\N	\N	EFO	5	EFO	genetic disorder	Auriculoosteodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:114	"" []	5181500	\N	\N	EFO	7	EFO	disposition	Auriculoosteodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:114	"" []	4390912	\N	\N	EFO	6	EFO	disease	Auriculoosteodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:114	"" []	5996878	\N	\N	EFO	8	EFO	material property	Auriculoosteodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:114	"" []	6550481	\N	\N	EFO	9	EFO	experimental factor	Auriculoosteodysplasia
Orphanet:1143	\N	\N	"Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." []	Orphanet:1143	"Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." []	73334	\N	\N	EFO	0	EFO	Neurogenic arthrogryposis multiplex congenita	Neurogenic arthrogryposis multiplex congenita
Orphanet:1037	Orphanet:1143	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:1143	"Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." []	214536	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Neurogenic arthrogryposis multiplex congenita
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:1143	"Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." []	568551	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Neurogenic arthrogryposis multiplex congenita
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1143	"Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." []	1150156	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Neurogenic arthrogryposis multiplex congenita
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1143	"Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." []	2032395	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Neurogenic arthrogryposis multiplex congenita
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1143	"Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." []	3182940	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Neurogenic arthrogryposis multiplex congenita
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1143	"Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." []	4390914	\N	\N	EFO	6	EFO	genetic disorder	Neurogenic arthrogryposis multiplex congenita
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1143	"Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." []	5410150	\N	\N	EFO	7	EFO	disease	Neurogenic arthrogryposis multiplex congenita
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1143	"Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." []	6147980	\N	\N	EFO	8	EFO	disposition	Neurogenic arthrogryposis multiplex congenita
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1143	"Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." []	6632030	\N	\N	EFO	9	EFO	material property	Neurogenic arthrogryposis multiplex congenita
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1143	"Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." []	6925381	\N	\N	EFO	10	EFO	experimental factor	Neurogenic arthrogryposis multiplex congenita
Orphanet:1144	\N	\N	"" []	Orphanet:1144	"" []	73335	\N	\N	EFO	0	EFO	Arthrogryposis-like hand anomaly - sensorineural deafness	Arthrogryposis-like hand anomaly - sensorineural deafness
Orphanet:90642	Orphanet:1144	\N	"" []	Orphanet:1144	"" []	214537	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Arthrogryposis-like hand anomaly - sensorineural deafness
Orphanet:97120	Orphanet:1144	\N	"" []	Orphanet:1144	"" []	214538	\N	\N	EFO	1	EFO	Distal arthrogryposis	Arthrogryposis-like hand anomaly - sensorineural deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1144	"" []	568552	\N	\N	EFO	2	EFO	Rare genetic deafness	Arthrogryposis-like hand anomaly - sensorineural deafness
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:1144	"" []	568553	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Arthrogryposis-like hand anomaly - sensorineural deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1144	"" []	1150157	\N	\N	EFO	3	EFO	genetic disorder	Arthrogryposis-like hand anomaly - sensorineural deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1144	"" []	1150158	\N	\N	EFO	3	EFO	auditory system disease	Arthrogryposis-like hand anomaly - sensorineural deafness
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1144	"" []	1150159	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Arthrogryposis-like hand anomaly - sensorineural deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1144	"" []	5410153	\N	\N	EFO	7	EFO	disease	Arthrogryposis-like hand anomaly - sensorineural deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1144	"" []	2032397	\N	\N	EFO	4	EFO	sensory system disease	Arthrogryposis-like hand anomaly - sensorineural deafness
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1144	"" []	2032398	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Arthrogryposis-like hand anomaly - sensorineural deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1144	"" []	5817448	\N	\N	EFO	8	EFO	disposition	Arthrogryposis-like hand anomaly - sensorineural deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1144	"" []	3182942	\N	\N	EFO	5	EFO	nervous system disease	Arthrogryposis-like hand anomaly - sensorineural deafness
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1144	"" []	3182943	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Arthrogryposis-like hand anomaly - sensorineural deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1144	"" []	6409803	\N	\N	EFO	9	EFO	material property	Arthrogryposis-like hand anomaly - sensorineural deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1144	"" []	4390916	\N	\N	EFO	6	EFO	disease	Arthrogryposis-like hand anomaly - sensorineural deafness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1144	"" []	4390917	\N	\N	EFO	6	EFO	genetic disorder	Arthrogryposis-like hand anomaly - sensorineural deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1144	"" []	6807660	\N	\N	EFO	10	EFO	experimental factor	Arthrogryposis-like hand anomaly - sensorineural deafness
Orphanet:1145	\N	\N	"" []	Orphanet:1145	"" []	73336	\N	\N	EFO	0	EFO	X-linked distal arthrogryposis multiplex congenita	X-linked distal arthrogryposis multiplex congenita
Orphanet:1037	Orphanet:1145	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:1145	"" []	214539	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	X-linked distal arthrogryposis multiplex congenita
Orphanet:98505	Orphanet:1145	\N	"" []	Orphanet:1145	"" []	214540	\N	\N	EFO	1	EFO	Genetic motor neuron disease	X-linked distal arthrogryposis multiplex congenita
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:1145	"" []	568554	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	X-linked distal arthrogryposis multiplex congenita
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:1145	"" []	568555	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	X-linked distal arthrogryposis multiplex congenita
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1145	"" []	1150160	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	X-linked distal arthrogryposis multiplex congenita
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:1145	"" []	1150161	\N	\N	EFO	3	EFO	muscular disease	X-linked distal arthrogryposis multiplex congenita
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:1145	"" []	1150162	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked distal arthrogryposis multiplex congenita
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1145	"" []	2032399	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	X-linked distal arthrogryposis multiplex congenita
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1145	"" []	2032400	\N	\N	EFO	4	EFO	skeletal system disease	X-linked distal arthrogryposis multiplex congenita
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1145	"" []	2032401	\N	\N	EFO	4	EFO	genetic disorder	X-linked distal arthrogryposis multiplex congenita
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1145	"" []	3182944	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked distal arthrogryposis multiplex congenita
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1145	"" []	3182945	\N	\N	EFO	5	EFO	disease	X-linked distal arthrogryposis multiplex congenita
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1145	"" []	5410154	\N	\N	EFO	7	EFO	disease	X-linked distal arthrogryposis multiplex congenita
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1145	"" []	4390918	\N	\N	EFO	6	EFO	genetic disorder	X-linked distal arthrogryposis multiplex congenita
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1145	"" []	5876711	\N	\N	EFO	8	EFO	disposition	X-linked distal arthrogryposis multiplex congenita
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1145	"" []	6469922	\N	\N	EFO	9	EFO	material property	X-linked distal arthrogryposis multiplex congenita
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1145	"" []	6848256	\N	\N	EFO	10	EFO	experimental factor	X-linked distal arthrogryposis multiplex congenita
Orphanet:1146	\N	\N	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	73337	\N	\N	EFO	0	EFO	Digitotalar dysmorphism	Digitotalar dysmorphism
Orphanet:330206	Orphanet:1146	\N	"" []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	214541	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Digitotalar dysmorphism
Orphanet:97120	Orphanet:1146	\N	"" []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	214542	\N	\N	EFO	1	EFO	Distal arthrogryposis	Digitotalar dysmorphism
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	568556	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Digitotalar dysmorphism
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	568557	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Digitotalar dysmorphism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	1150163	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Digitotalar dysmorphism
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	1150164	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Digitotalar dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	4390921	\N	\N	EFO	6	EFO	genetic disorder	Digitotalar dysmorphism
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	2032403	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Digitotalar dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	5059557	\N	\N	EFO	7	EFO	disease	Digitotalar dysmorphism
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	3182948	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Digitotalar dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	5876712	\N	\N	EFO	8	EFO	disposition	Digitotalar dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	6469923	\N	\N	EFO	9	EFO	material property	Digitotalar dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1146	"Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." []	6848257	\N	\N	EFO	10	EFO	experimental factor	Digitotalar dysmorphism
Orphanet:1147	\N	\N	"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." []	Orphanet:1147	"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." []	73338	\N	\N	EFO	0	EFO	Sheldon-Hall syndrome	Sheldon-Hall syndrome
Orphanet:97120	Orphanet:1147	\N	"" []	Orphanet:1147	"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." []	214543	\N	\N	EFO	1	EFO	Distal arthrogryposis	Sheldon-Hall syndrome
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:1147	"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." []	568558	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Sheldon-Hall syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1147	"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." []	1150165	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Sheldon-Hall syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1147	"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." []	2032404	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Sheldon-Hall syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1147	"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." []	3182949	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Sheldon-Hall syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1147	"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." []	4390922	\N	\N	EFO	6	EFO	genetic disorder	Sheldon-Hall syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1147	"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." []	5410157	\N	\N	EFO	7	EFO	disease	Sheldon-Hall syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1147	"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." []	6147983	\N	\N	EFO	8	EFO	disposition	Sheldon-Hall syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1147	"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." []	6632031	\N	\N	EFO	9	EFO	material property	Sheldon-Hall syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1147	"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." []	6925382	\N	\N	EFO	10	EFO	experimental factor	Sheldon-Hall syndrome
Orphanet:1149	\N	\N	"" []	Orphanet:1149	"" []	73339	\N	\N	EFO	0	EFO	Arthrogryposis-like syndrome	Arthrogryposis-like syndrome
Orphanet:1037	Orphanet:1149	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:1149	"" []	214544	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Arthrogryposis-like syndrome
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:1149	"" []	568559	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Arthrogryposis-like syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1149	"" []	1150166	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Arthrogryposis-like syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1149	"" []	2032405	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Arthrogryposis-like syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1149	"" []	3182950	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Arthrogryposis-like syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1149	"" []	4390923	\N	\N	EFO	6	EFO	genetic disorder	Arthrogryposis-like syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1149	"" []	5410158	\N	\N	EFO	7	EFO	disease	Arthrogryposis-like syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1149	"" []	6147984	\N	\N	EFO	8	EFO	disposition	Arthrogryposis-like syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1149	"" []	6632032	\N	\N	EFO	9	EFO	material property	Arthrogryposis-like syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1149	"" []	6925383	\N	\N	EFO	10	EFO	experimental factor	Arthrogryposis-like syndrome
Orphanet:115	\N	\N	"" []	Orphanet:115	"" []	73340	\N	\N	EFO	0	EFO	Congenital contractural arachnodactyly	Congenital contractural arachnodactyly
Orphanet:284993	Orphanet:115	\N	"" []	Orphanet:115	"" []	214545	\N	\N	EFO	1	EFO	Marfan and Marfan-related disorder	Congenital contractural arachnodactyly
Orphanet:97120	Orphanet:115	\N	"" []	Orphanet:115	"" []	214546	\N	\N	EFO	1	EFO	Distal arthrogryposis	Congenital contractural arachnodactyly
Orphanet:271870	Orphanet:284993	\N	"" []	Orphanet:115	"" []	568560	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Congenital contractural arachnodactyly
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:115	"" []	568561	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Congenital contractural arachnodactyly
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:115	"" []	1150167	\N	\N	EFO	3	EFO	genetic disorder	Congenital contractural arachnodactyly
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:115	"" []	1150168	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Congenital contractural arachnodactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:115	"" []	5410160	\N	\N	EFO	7	EFO	disease	Congenital contractural arachnodactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:115	"" []	2032407	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital contractural arachnodactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:115	"" []	5817449	\N	\N	EFO	8	EFO	disposition	Congenital contractural arachnodactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:115	"" []	3182952	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital contractural arachnodactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:115	"" []	6409804	\N	\N	EFO	9	EFO	material property	Congenital contractural arachnodactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:115	"" []	4390925	\N	\N	EFO	6	EFO	genetic disorder	Congenital contractural arachnodactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:115	"" []	6807661	\N	\N	EFO	10	EFO	experimental factor	Congenital contractural arachnodactyly
Orphanet:1150	\N	\N	"" []	Orphanet:1150	"" []	73341	\N	\N	EFO	0	EFO	Arthrogryposis multiplex congenita - whistling face	Arthrogryposis multiplex congenita - whistling face
Orphanet:1037	Orphanet:1150	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:1150	"" []	214547	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Arthrogryposis multiplex congenita - whistling face
Orphanet:156237	Orphanet:1150	\N	"" []	Orphanet:1150	"" []	214548	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Arthrogryposis multiplex congenita - whistling face
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:1150	"" []	568562	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Arthrogryposis multiplex congenita - whistling face
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1150	"" []	568563	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Arthrogryposis multiplex congenita - whistling face
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1150	"" []	1150169	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Arthrogryposis multiplex congenita - whistling face
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1150	"" []	1150170	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Arthrogryposis multiplex congenita - whistling face
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1150	"" []	2032408	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Arthrogryposis multiplex congenita - whistling face
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1150	"" []	2032409	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Arthrogryposis multiplex congenita - whistling face
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1150	"" []	3182953	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Arthrogryposis multiplex congenita - whistling face
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1150	"" []	4390926	\N	\N	EFO	6	EFO	genetic disorder	Arthrogryposis multiplex congenita - whistling face
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1150	"" []	5181501	\N	\N	EFO	7	EFO	disease	Arthrogryposis multiplex congenita - whistling face
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1150	"" []	5996879	\N	\N	EFO	8	EFO	disposition	Arthrogryposis multiplex congenita - whistling face
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1150	"" []	6550482	\N	\N	EFO	9	EFO	material property	Arthrogryposis multiplex congenita - whistling face
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1150	"" []	6889015	\N	\N	EFO	10	EFO	experimental factor	Arthrogryposis multiplex congenita - whistling face
Orphanet:1154	\N	\N	"Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." []	Orphanet:1154	"Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." []	73342	\N	\N	EFO	0	EFO	Arthrogryposis with oculomotor limitation and electroretinal anomalies	Arthrogryposis with oculomotor limitation and electroretinal anomalies
Orphanet:97120	Orphanet:1154	\N	"" []	Orphanet:1154	"Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." []	214549	\N	\N	EFO	1	EFO	Distal arthrogryposis	Arthrogryposis with oculomotor limitation and electroretinal anomalies
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:1154	"Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." []	568564	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Arthrogryposis with oculomotor limitation and electroretinal anomalies
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1154	"Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." []	1150171	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Arthrogryposis with oculomotor limitation and electroretinal anomalies
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1154	"Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." []	2032410	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Arthrogryposis with oculomotor limitation and electroretinal anomalies
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1154	"Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." []	3182955	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Arthrogryposis with oculomotor limitation and electroretinal anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1154	"Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." []	4390928	\N	\N	EFO	6	EFO	genetic disorder	Arthrogryposis with oculomotor limitation and electroretinal anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1154	"Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." []	5410162	\N	\N	EFO	7	EFO	disease	Arthrogryposis with oculomotor limitation and electroretinal anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1154	"Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." []	6147986	\N	\N	EFO	8	EFO	disposition	Arthrogryposis with oculomotor limitation and electroretinal anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1154	"Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." []	6632034	\N	\N	EFO	9	EFO	material property	Arthrogryposis with oculomotor limitation and electroretinal anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1154	"Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." []	6925384	\N	\N	EFO	10	EFO	experimental factor	Arthrogryposis with oculomotor limitation and electroretinal anomalies
Orphanet:1155	\N	\N	"" []	Orphanet:1155	"" []	73343	\N	\N	EFO	0	EFO	Arthrogryposis due to muscular dystrophy	Arthrogryposis due to muscular dystrophy
Orphanet:1037	Orphanet:1155	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:1155	"" []	214550	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Arthrogryposis due to muscular dystrophy
Orphanet:97242	Orphanet:1155	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:1155	"" []	214551	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Arthrogryposis due to muscular dystrophy
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:1155	"" []	568565	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Arthrogryposis due to muscular dystrophy
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:1155	"" []	568566	\N	\N	EFO	2	EFO	Muscular dystrophy	Arthrogryposis due to muscular dystrophy
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1155	"" []	1150172	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Arthrogryposis due to muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:1155	"" []	1150173	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Arthrogryposis due to muscular dystrophy
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1155	"" []	2032411	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Arthrogryposis due to muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:1155	"" []	2032412	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Arthrogryposis due to muscular dystrophy
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1155	"" []	3182956	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Arthrogryposis due to muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:1155	"" []	3182957	\N	\N	EFO	5	EFO	muscular disease	Arthrogryposis due to muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:1155	"" []	3182958	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Arthrogryposis due to muscular dystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1155	"" []	4390929	\N	\N	EFO	6	EFO	genetic disorder	Arthrogryposis due to muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1155	"" []	4390930	\N	\N	EFO	6	EFO	skeletal system disease	Arthrogryposis due to muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1155	"" []	4390931	\N	\N	EFO	6	EFO	genetic disorder	Arthrogryposis due to muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1155	"" []	5410163	\N	\N	EFO	7	EFO	disease	Arthrogryposis due to muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1155	"" []	5410164	\N	\N	EFO	7	EFO	disease	Arthrogryposis due to muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1155	"" []	6147987	\N	\N	EFO	8	EFO	disposition	Arthrogryposis due to muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1155	"" []	6632035	\N	\N	EFO	9	EFO	material property	Arthrogryposis due to muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1155	"" []	6925385	\N	\N	EFO	10	EFO	experimental factor	Arthrogryposis due to muscular dystrophy
Orphanet:1159	\N	\N	"" []	Orphanet:1159	"" []	73344	\N	\N	EFO	0	EFO	Progressive pseudorheumatoid arthropathy of childhood	Progressive pseudorheumatoid arthropathy of childhood
Orphanet:253	Orphanet:1159	\N	"" []	Orphanet:1159	"" []	214552	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Progressive pseudorheumatoid arthropathy of childhood
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:1159	"" []	568567	\N	\N	EFO	2	EFO	Primary bone dysplasia	Progressive pseudorheumatoid arthropathy of childhood
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1159	"" []	1150174	\N	\N	EFO	3	EFO	Rare genetic bone disease	Progressive pseudorheumatoid arthropathy of childhood
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1159	"" []	1150175	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Progressive pseudorheumatoid arthropathy of childhood
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1159	"" []	2032413	\N	\N	EFO	4	EFO	genetic disorder	Progressive pseudorheumatoid arthropathy of childhood
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1159	"" []	2032414	\N	\N	EFO	4	EFO	bone disease	Progressive pseudorheumatoid arthropathy of childhood
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1159	"" []	2032415	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Progressive pseudorheumatoid arthropathy of childhood
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1159	"" []	4390934	\N	\N	EFO	6	EFO	disease	Progressive pseudorheumatoid arthropathy of childhood
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1159	"" []	3182960	\N	\N	EFO	5	EFO	skeletal system disease	Progressive pseudorheumatoid arthropathy of childhood
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1159	"" []	3182961	\N	\N	EFO	5	EFO	genetic disorder	Progressive pseudorheumatoid arthropathy of childhood
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1159	"" []	5181502	\N	\N	EFO	7	EFO	disposition	Progressive pseudorheumatoid arthropathy of childhood
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1159	"" []	4390933	\N	\N	EFO	6	EFO	disease	Progressive pseudorheumatoid arthropathy of childhood
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1159	"" []	5996880	\N	\N	EFO	8	EFO	material property	Progressive pseudorheumatoid arthropathy of childhood
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1159	"" []	6550483	\N	\N	EFO	9	EFO	experimental factor	Progressive pseudorheumatoid arthropathy of childhood
Orphanet:116	\N	\N	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	73345	\N	\N	EFO	0	EFO	Beckwith-Wiedemann syndrome	Beckwith-Wiedemann syndrome
Orphanet:156207	Orphanet:116	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	214553	\N	\N	EFO	1	EFO	Macroglossia	Beckwith-Wiedemann syndrome
Orphanet:156237	Orphanet:116	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	214554	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Beckwith-Wiedemann syndrome
Orphanet:183422	Orphanet:116	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	214555	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Beckwith-Wiedemann syndrome
Orphanet:183595	Orphanet:116	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	214556	\N	\N	EFO	1	EFO	Genetic renal tumor	Beckwith-Wiedemann syndrome
Orphanet:217595	Orphanet:116	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	214557	\N	\N	EFO	1	EFO	Syndrome associated with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome
Orphanet:93460	Orphanet:116	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	214558	\N	\N	EFO	1	EFO	Overgrowth syndrome	Beckwith-Wiedemann syndrome
Orphanet:93547	Orphanet:116	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	214559	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Beckwith-Wiedemann syndrome
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	568568	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	568569	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Beckwith-Wiedemann syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	568570	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Beckwith-Wiedemann syndrome
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	568571	\N	\N	EFO	2	EFO	urogenital neoplasm	Beckwith-Wiedemann syndrome
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	568572	\N	\N	EFO	2	EFO	Rare genetic tumor	Beckwith-Wiedemann syndrome
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	568573	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	568574	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Beckwith-Wiedemann syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	568575	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Beckwith-Wiedemann syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	2032417	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	1150177	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	1150178	\N	\N	EFO	3	EFO	genetic disorder	Beckwith-Wiedemann syndrome
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	1150179	\N	\N	EFO	3	EFO	neoplasm	Beckwith-Wiedemann syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	1150180	\N	\N	EFO	3	EFO	genetic disorder	Beckwith-Wiedemann syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	1150181	\N	\N	EFO	3	EFO	neoplasm	Beckwith-Wiedemann syndrome
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	1150182	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Beckwith-Wiedemann syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	1150183	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	1150184	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	1150185	\N	\N	EFO	3	EFO	Rare genetic renal disease	Beckwith-Wiedemann syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	3000115	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	4133225	\N	\N	EFO	6	EFO	disease	Beckwith-Wiedemann syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	2032419	\N	\N	EFO	4	EFO	disease	Beckwith-Wiedemann syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	2032420	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	2032421	\N	\N	EFO	4	EFO	heart disease	Beckwith-Wiedemann syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	2032422	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	5059558	\N	\N	EFO	7	EFO	disposition	Beckwith-Wiedemann syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	3182964	\N	\N	EFO	5	EFO	cardiovascular disease	Beckwith-Wiedemann syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	5876713	\N	\N	EFO	8	EFO	material property	Beckwith-Wiedemann syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	4390936	\N	\N	EFO	6	EFO	disease	Beckwith-Wiedemann syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:116	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	6469924	\N	\N	EFO	9	EFO	experimental factor	Beckwith-Wiedemann syndrome
Orphanet:1166	\N	\N	"Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." []	Orphanet:1166	"Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." []	73346	\N	\N	EFO	0	EFO	Congenital unilateral hypoplasia of depressor anguli oris	Congenital unilateral hypoplasia of depressor anguli oris
Orphanet:330197	Orphanet:1166	\N	"" []	Orphanet:1166	"Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." []	214560	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Congenital unilateral hypoplasia of depressor anguli oris
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1166	"Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." []	568576	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Congenital unilateral hypoplasia of depressor anguli oris
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1166	"Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." []	1150186	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital unilateral hypoplasia of depressor anguli oris
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1166	"Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." []	2032423	\N	\N	EFO	4	EFO	genetic disorder	Congenital unilateral hypoplasia of depressor anguli oris
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1166	"Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." []	3182965	\N	\N	EFO	5	EFO	disease	Congenital unilateral hypoplasia of depressor anguli oris
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1166	"Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." []	4390937	\N	\N	EFO	6	EFO	disposition	Congenital unilateral hypoplasia of depressor anguli oris
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1166	"Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." []	5410167	\N	\N	EFO	7	EFO	material property	Congenital unilateral hypoplasia of depressor anguli oris
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1166	"Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." []	6147989	\N	\N	EFO	8	EFO	experimental factor	Congenital unilateral hypoplasia of depressor anguli oris
Orphanet:1168	\N	\N	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	73347	\N	\N	EFO	0	EFO	Ataxia - oculomotor apraxia type 1	Ataxia - oculomotor apraxia type 1
Orphanet:35656	Orphanet:1168	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	214561	\N	\N	EFO	1	EFO	Coenzyme Q10 deficiency	Ataxia - oculomotor apraxia type 1
Orphanet:98097	Orphanet:1168	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	214562	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Ataxia - oculomotor apraxia type 1
Orphanet:98688	Orphanet:1168	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	214563	\N	\N	EFO	1	EFO	Oculomotor apraxia or related oculomotor disease	Ataxia - oculomotor apraxia type 1
Orphanet:225703	Orphanet:35656	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	568577	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Ataxia - oculomotor apraxia type 1
Orphanet:2443	Orphanet:35656	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	568578	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Ataxia - oculomotor apraxia type 1
Orphanet:68385	Orphanet:35656	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	568579	\N	\N	EFO	2	EFO	Neurometabolic disease	Ataxia - oculomotor apraxia type 1
Orphanet:1172	Orphanet:98097	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	568580	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Ataxia - oculomotor apraxia type 1
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	568581	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Ataxia - oculomotor apraxia type 1
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	1150187	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Ataxia - oculomotor apraxia type 1
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	1150188	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Ataxia - oculomotor apraxia type 1
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	1150189	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ataxia - oculomotor apraxia type 1
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	1150190	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Ataxia - oculomotor apraxia type 1
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	1150191	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Ataxia - oculomotor apraxia type 1
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	1150192	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Ataxia - oculomotor apraxia type 1
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	4390944	\N	\N	EFO	6	EFO	Rare genetic eye disease	Ataxia - oculomotor apraxia type 1
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	2032424	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Ataxia - oculomotor apraxia type 1
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	2032425	\N	\N	EFO	4	EFO	Mitochondrial disease	Ataxia - oculomotor apraxia type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	6147993	\N	\N	EFO	8	EFO	genetic disorder	Ataxia - oculomotor apraxia type 1
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	2032427	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Ataxia - oculomotor apraxia type 1
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	2032428	\N	\N	EFO	4	EFO	Ataxia with dementia	Ataxia - oculomotor apraxia type 1
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	2032429	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Ataxia - oculomotor apraxia type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	5028379	\N	\N	EFO	7	EFO	genetic disorder	Ataxia - oculomotor apraxia type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	5028380	\N	\N	EFO	7	EFO	eye disease	Ataxia - oculomotor apraxia type 1
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	3182966	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Ataxia - oculomotor apraxia type 1
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	3182967	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Ataxia - oculomotor apraxia type 1
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	3182968	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Ataxia - oculomotor apraxia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	6378803	\N	\N	EFO	9	EFO	disease	Ataxia - oculomotor apraxia type 1
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	3182971	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Ataxia - oculomotor apraxia type 1
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	3182972	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Ataxia - oculomotor apraxia type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	5817451	\N	\N	EFO	8	EFO	disease	Ataxia - oculomotor apraxia type 1
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	4390938	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Ataxia - oculomotor apraxia type 1
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	4390939	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Ataxia - oculomotor apraxia type 1
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	4390940	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Ataxia - oculomotor apraxia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	6778597	\N	\N	EFO	10	EFO	disposition	Ataxia - oculomotor apraxia type 1
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	4390942	\N	\N	EFO	6	EFO	Genetic dementia	Ataxia - oculomotor apraxia type 1
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	4390943	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Ataxia - oculomotor apraxia type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	5410169	\N	\N	EFO	7	EFO	genetic disorder	Ataxia - oculomotor apraxia type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	5410170	\N	\N	EFO	7	EFO	genetic disorder	Ataxia - oculomotor apraxia type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	5410171	\N	\N	EFO	7	EFO	metabolic disease	Ataxia - oculomotor apraxia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	7029811	\N	\N	EFO	11	EFO	material property	Ataxia - oculomotor apraxia type 1
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	5410173	\N	\N	EFO	7	EFO	brain disease	Ataxia - oculomotor apraxia type 1
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	5410174	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Ataxia - oculomotor apraxia type 1
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	5410175	\N	\N	EFO	7	EFO	neurodegenerative disease	Ataxia - oculomotor apraxia type 1
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	5410176	\N	\N	EFO	7	EFO	brain disease	Ataxia - oculomotor apraxia type 1
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	5410177	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Ataxia - oculomotor apraxia type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	6147990	\N	\N	EFO	8	EFO	disease	Ataxia - oculomotor apraxia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	7181744	\N	\N	EFO	12	EFO	experimental factor	Ataxia - oculomotor apraxia type 1
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	6147992	\N	\N	EFO	8	EFO	nervous system disease	Ataxia - oculomotor apraxia type 1
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	6147994	\N	\N	EFO	8	EFO	nervous system disease	Ataxia - oculomotor apraxia type 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1168	"Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." []	6632036	\N	\N	EFO	9	EFO	disease	Ataxia - oculomotor apraxia type 1
Orphanet:1170	\N	\N	"" []	Orphanet:1170	"" []	73348	\N	\N	EFO	0	EFO	Autosomal recessive cerebelloparenchymal disorder type 3	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:98095	Orphanet:1170	\N	"" []	Orphanet:1170	"" []	214564	\N	\N	EFO	1	EFO	Autosomal recessive congenital cerebellar ataxia	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:1170	"" []	568582	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:1170	"" []	1150194	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:1170	"" []	1150195	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:1170	"" []	1150196	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1170	"" []	2032432	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:1170	"" []	2032433	\N	\N	EFO	4	EFO	Ataxia with dementia	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:1170	"" []	2032434	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Autosomal recessive cerebelloparenchymal disorder type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1170	"" []	6147997	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:1170	"" []	3182975	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:1170	"" []	3182976	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive cerebelloparenchymal disorder type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1170	"" []	6409806	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:1170	"" []	4390946	\N	\N	EFO	6	EFO	Genetic dementia	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:1170	"" []	4390947	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:1170	"" []	4390948	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive cerebelloparenchymal disorder type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1170	"" []	6807663	\N	\N	EFO	10	EFO	disposition	Autosomal recessive cerebelloparenchymal disorder type 3
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1170	"" []	5410179	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:1170	"" []	5410180	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebelloparenchymal disorder type 3
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1170	"" []	5410181	\N	\N	EFO	7	EFO	neurodegenerative disease	Autosomal recessive cerebelloparenchymal disorder type 3
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1170	"" []	5410182	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1170	"" []	5410183	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebelloparenchymal disorder type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1170	"" []	5410184	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cerebelloparenchymal disorder type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1170	"" []	5410185	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive cerebelloparenchymal disorder type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1170	"" []	7048532	\N	\N	EFO	11	EFO	material property	Autosomal recessive cerebelloparenchymal disorder type 3
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1170	"" []	6147996	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebelloparenchymal disorder type 3
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1170	"" []	6147998	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebelloparenchymal disorder type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1170	"" []	6148000	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebelloparenchymal disorder type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1170	"" []	7190183	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive cerebelloparenchymal disorder type 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1170	"" []	6632038	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebelloparenchymal disorder type 3
Orphanet:1171	\N	\N	"" []	Orphanet:1171	"" []	73349	\N	\N	EFO	0	EFO	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:90642	Orphanet:1171	\N	"" []	Orphanet:1171	"" []	214565	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:94145	Orphanet:1171	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:1171	"" []	214566	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:98672	Orphanet:1171	\N	"" []	Orphanet:1171	"" []	214567	\N	\N	EFO	1	EFO	Autosomal dominant optic atrophy	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1171	"" []	568583	\N	\N	EFO	2	EFO	Rare genetic deafness	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:1171	"" []	568584	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:103	Orphanet:98672	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:1171	"" []	568585	\N	\N	EFO	2	EFO	Genetic optic atrophy	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1171	"" []	1150197	\N	\N	EFO	3	EFO	genetic disorder	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1171	"" []	1150198	\N	\N	EFO	3	EFO	auditory system disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:1171	"" []	1150199	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:1171	"" []	1150200	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:1171	"" []	1150201	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:1171	"" []	1150202	\N	\N	EFO	3	EFO	Optic neuropathy	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1171	"" []	6409807	\N	\N	EFO	9	EFO	disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1171	"" []	2032436	\N	\N	EFO	4	EFO	sensory system disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1171	"" []	2032437	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:1171	"" []	2032438	\N	\N	EFO	4	EFO	Ataxia with dementia	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:1171	"" []	2032439	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:1171	"" []	2032440	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1171	"" []	6762360	\N	\N	EFO	10	EFO	disposition	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1171	"" []	3182978	\N	\N	EFO	5	EFO	nervous system disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1171	"" []	6148002	\N	\N	EFO	8	EFO	genetic disorder	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:1171	"" []	3182980	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:1171	"" []	3182981	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1171	"" []	5410192	\N	\N	EFO	7	EFO	genetic disorder	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1171	"" []	5410193	\N	\N	EFO	7	EFO	eye disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1171	"" []	7015663	\N	\N	EFO	11	EFO	material property	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1171	"" []	6632039	\N	\N	EFO	9	EFO	disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:1171	"" []	4390952	\N	\N	EFO	6	EFO	Genetic dementia	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:1171	"" []	4390953	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:1171	"" []	4390954	\N	\N	EFO	6	EFO	Rare genetic eye disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1171	"" []	5876716	\N	\N	EFO	8	EFO	disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1171	"" []	7173612	\N	\N	EFO	12	EFO	experimental factor	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1171	"" []	5410187	\N	\N	EFO	7	EFO	brain disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:1171	"" []	5410188	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1171	"" []	5410189	\N	\N	EFO	7	EFO	neurodegenerative disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1171	"" []	5410190	\N	\N	EFO	7	EFO	brain disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1171	"" []	5410191	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1171	"" []	6148001	\N	\N	EFO	8	EFO	nervous system disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1171	"" []	6148003	\N	\N	EFO	8	EFO	nervous system disease	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Orphanet:1172	\N	\N	"" []	Orphanet:1172	"" []	73350	\N	\N	EFO	0	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:1172	"" []	214568	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Autosomal recessive cerebellar ataxia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:1172	"" []	214569	\N	\N	EFO	1	EFO	Early-onset ataxia with dementia	Autosomal recessive cerebellar ataxia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:1172	"" []	214570	\N	\N	EFO	1	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive cerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1172	"" []	568586	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:1172	"" []	568587	\N	\N	EFO	2	EFO	Ataxia with dementia	Autosomal recessive cerebellar ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:1172	"" []	568588	\N	\N	EFO	2	EFO	Nervous system anomaly with eye involvement	Autosomal recessive cerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1172	"" []	4390958	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive cerebellar ataxia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:1172	"" []	1150204	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive cerebellar ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:1172	"" []	1150205	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1172	"" []	5028381	\N	\N	EFO	7	EFO	disease	Autosomal recessive cerebellar ataxia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:1172	"" []	2032442	\N	\N	EFO	4	EFO	Genetic dementia	Autosomal recessive cerebellar ataxia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:1172	"" []	2032443	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebellar ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:1172	"" []	2032444	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal recessive cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1172	"" []	5817452	\N	\N	EFO	8	EFO	disposition	Autosomal recessive cerebellar ataxia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1172	"" []	3182985	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive cerebellar ataxia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:1172	"" []	3182986	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1172	"" []	3182987	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive cerebellar ataxia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1172	"" []	3182988	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive cerebellar ataxia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1172	"" []	3182989	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1172	"" []	3182990	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive cerebellar ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1172	"" []	3182991	\N	\N	EFO	5	EFO	eye disease	Autosomal recessive cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1172	"" []	6409808	\N	\N	EFO	9	EFO	material property	Autosomal recessive cerebellar ataxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1172	"" []	4390957	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive cerebellar ataxia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1172	"" []	4390959	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive cerebellar ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1172	"" []	4390961	\N	\N	EFO	6	EFO	disease	Autosomal recessive cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1172	"" []	6807664	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive cerebellar ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1172	"" []	5410195	\N	\N	EFO	7	EFO	disease	Autosomal recessive cerebellar ataxia
Orphanet:1173	\N	\N	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	73351	\N	\N	EFO	0	EFO	Cerebellar ataxia - hypogonadism	Cerebellar ataxia - hypogonadism
Orphanet:181387	Orphanet:1173	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	214571	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Cerebellar ataxia - hypogonadism
Orphanet:183518	Orphanet:1173	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	214572	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Cerebellar ataxia - hypogonadism
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	568589	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Cerebellar ataxia - hypogonadism
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	568590	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Cerebellar ataxia - hypogonadism
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	1150206	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Cerebellar ataxia - hypogonadism
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	1150207	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Cerebellar ataxia - hypogonadism
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	1150208	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Cerebellar ataxia - hypogonadism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	1150209	\N	\N	EFO	3	EFO	genetic disorder	Cerebellar ataxia - hypogonadism
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	2032445	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Cerebellar ataxia - hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	2032446	\N	\N	EFO	4	EFO	Rare genetic male infertility	Cerebellar ataxia - hypogonadism
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	2032447	\N	\N	EFO	4	EFO	Pituitary deficiency	Cerebellar ataxia - hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	6148004	\N	\N	EFO	8	EFO	disease	Cerebellar ataxia - hypogonadism
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	3182992	\N	\N	EFO	5	EFO	genetic disorder	Cerebellar ataxia - hypogonadism
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	3182993	\N	\N	EFO	5	EFO	reproductive system disease	Cerebellar ataxia - hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	3182994	\N	\N	EFO	5	EFO	Genetic infertility	Cerebellar ataxia - hypogonadism
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	3182995	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Cerebellar ataxia - hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	6378805	\N	\N	EFO	9	EFO	disposition	Cerebellar ataxia - hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	5410197	\N	\N	EFO	7	EFO	disease	Cerebellar ataxia - hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	4390964	\N	\N	EFO	6	EFO	genetic disorder	Cerebellar ataxia - hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	4390965	\N	\N	EFO	6	EFO	reproductive system disease	Cerebellar ataxia - hypogonadism
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	4390966	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Cerebellar ataxia - hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	6778599	\N	\N	EFO	10	EFO	material property	Cerebellar ataxia - hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	5410198	\N	\N	EFO	7	EFO	genetic disorder	Cerebellar ataxia - hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	5410199	\N	\N	EFO	7	EFO	endocrine system disease	Cerebellar ataxia - hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	7029813	\N	\N	EFO	11	EFO	experimental factor	Cerebellar ataxia - hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1173	"Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term)." []	6148005	\N	\N	EFO	8	EFO	disease	Cerebellar ataxia - hypogonadism
Orphanet:1174	\N	\N	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	73352	\N	\N	EFO	0	EFO	Cerebellar ataxia - ectodermal dysplasia	Cerebellar ataxia - ectodermal dysplasia
Orphanet:79373	Orphanet:1174	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	214573	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Cerebellar ataxia - ectodermal dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	568591	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Cerebellar ataxia - ectodermal dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	568592	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Cerebellar ataxia - ectodermal dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	1150210	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cerebellar ataxia - ectodermal dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	1150211	\N	\N	EFO	3	EFO	Rare genetic skin disease	Cerebellar ataxia - ectodermal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	2032449	\N	\N	EFO	4	EFO	genetic disorder	Cerebellar ataxia - ectodermal dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	2032450	\N	\N	EFO	4	EFO	genetic disorder	Cerebellar ataxia - ectodermal dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	2032451	\N	\N	EFO	4	EFO	skin disease	Cerebellar ataxia - ectodermal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	3182997	\N	\N	EFO	5	EFO	disease	Cerebellar ataxia - ectodermal dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	3182998	\N	\N	EFO	5	EFO	disease	Cerebellar ataxia - ectodermal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	4390968	\N	\N	EFO	6	EFO	disposition	Cerebellar ataxia - ectodermal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	5410201	\N	\N	EFO	7	EFO	material property	Cerebellar ataxia - ectodermal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1174	"Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." []	6148006	\N	\N	EFO	8	EFO	experimental factor	Cerebellar ataxia - ectodermal dysplasia
Orphanet:1175	\N	\N	"" []	Orphanet:1175	"" []	73353	\N	\N	EFO	0	EFO	X-linked progressive cerebellar ataxia	X-linked progressive cerebellar ataxia
Orphanet:247765	Orphanet:1175	\N	"" []	Orphanet:1175	"" []	214574	\N	\N	EFO	1	EFO	X-linked cerebellar ataxia	X-linked progressive cerebellar ataxia
Orphanet:98464	Orphanet:1175	\N	"" []	Orphanet:1175	"" []	214575	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked progressive cerebellar ataxia
Orphanet:98693	Orphanet:1175	\N	"" []	Orphanet:1175	"" []	214576	\N	\N	EFO	1	EFO	Spinocerebellar ataxia with oculomotor anomaly	X-linked progressive cerebellar ataxia
Orphanet:183518	Orphanet:247765	\N	"" []	Orphanet:1175	"" []	568593	\N	\N	EFO	2	EFO	Rare hereditary ataxia	X-linked progressive cerebellar ataxia
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1175	"" []	568594	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked progressive cerebellar ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:1175	"" []	568595	\N	\N	EFO	2	EFO	Nervous system anomaly with eye involvement	X-linked progressive cerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1175	"" []	1150212	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked progressive cerebellar ataxia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1175	"" []	1150213	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked progressive cerebellar ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:1175	"" []	1150214	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	X-linked progressive cerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1175	"" []	3183000	\N	\N	EFO	5	EFO	genetic disorder	X-linked progressive cerebellar ataxia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1175	"" []	2032453	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked progressive cerebellar ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:1175	"" []	2032454	\N	\N	EFO	4	EFO	Rare genetic eye disease	X-linked progressive cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1175	"" []	4133228	\N	\N	EFO	6	EFO	disease	X-linked progressive cerebellar ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1175	"" []	3183001	\N	\N	EFO	5	EFO	genetic disorder	X-linked progressive cerebellar ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1175	"" []	3183002	\N	\N	EFO	5	EFO	eye disease	X-linked progressive cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1175	"" []	5181505	\N	\N	EFO	7	EFO	disposition	X-linked progressive cerebellar ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1175	"" []	4390970	\N	\N	EFO	6	EFO	disease	X-linked progressive cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1175	"" []	5996883	\N	\N	EFO	8	EFO	material property	X-linked progressive cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1175	"" []	6550485	\N	\N	EFO	9	EFO	experimental factor	X-linked progressive cerebellar ataxia
Orphanet:117573	\N	\N	"" []	Orphanet:117573	"" []	73354	\N	\N	EFO	0	EFO	Syndromic anorectal malformation	Syndromic anorectal malformation
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:117573	"" []	214577	\N	\N	EFO	1	EFO	Anorectal malformation	Syndromic anorectal malformation
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:117573	"" []	568596	\N	\N	EFO	2	EFO	Genetic digestive tract malformation	Syndromic anorectal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:117573	"" []	1150215	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndromic anorectal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:117573	"" []	2032455	\N	\N	EFO	4	EFO	genetic disorder	Syndromic anorectal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:117573	"" []	3183003	\N	\N	EFO	5	EFO	disease	Syndromic anorectal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:117573	"" []	4390971	\N	\N	EFO	6	EFO	disposition	Syndromic anorectal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:117573	"" []	5410203	\N	\N	EFO	7	EFO	material property	Syndromic anorectal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:117573	"" []	6148008	\N	\N	EFO	8	EFO	experimental factor	Syndromic anorectal malformation
Orphanet:1177	\N	\N	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	73355	\N	\N	EFO	0	EFO	Early-onset cerebellar ataxia with retained tendon reflexes	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:98098	Orphanet:1177	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	214578	\N	\N	EFO	1	EFO	Autosomal recessive degenerative and progressive cerebellar ataxia	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:1172	Orphanet:98098	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	568597	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	1150216	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	1150217	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	1150218	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	2032456	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	2032457	\N	\N	EFO	4	EFO	Ataxia with dementia	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	2032458	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Early-onset cerebellar ataxia with retained tendon reflexes
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	6148011	\N	\N	EFO	8	EFO	genetic disorder	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	3183005	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	3183006	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Early-onset cerebellar ataxia with retained tendon reflexes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	6409810	\N	\N	EFO	9	EFO	disease	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	4390973	\N	\N	EFO	6	EFO	Genetic dementia	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	4390974	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	4390975	\N	\N	EFO	6	EFO	Rare genetic eye disease	Early-onset cerebellar ataxia with retained tendon reflexes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	6807666	\N	\N	EFO	10	EFO	disposition	Early-onset cerebellar ataxia with retained tendon reflexes
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	5410205	\N	\N	EFO	7	EFO	brain disease	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	5410206	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Early-onset cerebellar ataxia with retained tendon reflexes
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	5410207	\N	\N	EFO	7	EFO	neurodegenerative disease	Early-onset cerebellar ataxia with retained tendon reflexes
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	5410208	\N	\N	EFO	7	EFO	brain disease	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	5410209	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Early-onset cerebellar ataxia with retained tendon reflexes
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	5410210	\N	\N	EFO	7	EFO	genetic disorder	Early-onset cerebellar ataxia with retained tendon reflexes
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	5410211	\N	\N	EFO	7	EFO	eye disease	Early-onset cerebellar ataxia with retained tendon reflexes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	7048533	\N	\N	EFO	11	EFO	material property	Early-onset cerebellar ataxia with retained tendon reflexes
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	6148010	\N	\N	EFO	8	EFO	nervous system disease	Early-onset cerebellar ataxia with retained tendon reflexes
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	6148012	\N	\N	EFO	8	EFO	nervous system disease	Early-onset cerebellar ataxia with retained tendon reflexes
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	6148014	\N	\N	EFO	8	EFO	disease	Early-onset cerebellar ataxia with retained tendon reflexes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	7190184	\N	\N	EFO	12	EFO	experimental factor	Early-onset cerebellar ataxia with retained tendon reflexes
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1177	"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." []	6632041	\N	\N	EFO	9	EFO	disease	Early-onset cerebellar ataxia with retained tendon reflexes
Orphanet:1178	\N	\N	"" []	Orphanet:1178	"" []	73356	\N	\N	EFO	0	EFO	Ataxia - tapetoretinal degeneration	Ataxia - tapetoretinal degeneration
Orphanet:183518	Orphanet:1178	\N	"" []	Orphanet:1178	"" []	214579	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Ataxia - tapetoretinal degeneration
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1178	"" []	568598	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Ataxia - tapetoretinal degeneration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1178	"" []	1150219	\N	\N	EFO	3	EFO	genetic disorder	Ataxia - tapetoretinal degeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1178	"" []	2032459	\N	\N	EFO	4	EFO	disease	Ataxia - tapetoretinal degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1178	"" []	3183007	\N	\N	EFO	5	EFO	disposition	Ataxia - tapetoretinal degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1178	"" []	4390976	\N	\N	EFO	6	EFO	material property	Ataxia - tapetoretinal degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1178	"" []	5410212	\N	\N	EFO	7	EFO	experimental factor	Ataxia - tapetoretinal degeneration
Orphanet:1179	\N	\N	"" []	Orphanet:1179	"" []	73357	\N	\N	EFO	0	EFO	Benign paroxysmal tonic upgaze of childhood with ataxia	Benign paroxysmal tonic upgaze of childhood with ataxia
Orphanet:306768	Orphanet:1179	\N	"" []	Orphanet:1179	"" []	214580	\N	\N	EFO	1	EFO	Rare paroxysmal movement disorder	Benign paroxysmal tonic upgaze of childhood with ataxia
Orphanet:183521	Orphanet:306768	\N	"" []	Orphanet:1179	"" []	568599	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Benign paroxysmal tonic upgaze of childhood with ataxia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:1179	"" []	1150220	\N	\N	EFO	3	EFO	movement disorder	Benign paroxysmal tonic upgaze of childhood with ataxia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:1179	"" []	1150221	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Benign paroxysmal tonic upgaze of childhood with ataxia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1179	"" []	2032460	\N	\N	EFO	4	EFO	nervous system disease	Benign paroxysmal tonic upgaze of childhood with ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1179	"" []	2032461	\N	\N	EFO	4	EFO	genetic disorder	Benign paroxysmal tonic upgaze of childhood with ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1179	"" []	3183008	\N	\N	EFO	5	EFO	disease	Benign paroxysmal tonic upgaze of childhood with ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1179	"" []	3183009	\N	\N	EFO	5	EFO	disease	Benign paroxysmal tonic upgaze of childhood with ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1179	"" []	4390977	\N	\N	EFO	6	EFO	disposition	Benign paroxysmal tonic upgaze of childhood with ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1179	"" []	5410213	\N	\N	EFO	7	EFO	material property	Benign paroxysmal tonic upgaze of childhood with ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1179	"" []	6148015	\N	\N	EFO	8	EFO	experimental factor	Benign paroxysmal tonic upgaze of childhood with ataxia
Orphanet:118	\N	\N	"" []	Orphanet:118	"" []	73358	\N	\N	EFO	0	EFO	Beta-mannosidosis	Beta-mannosidosis
Orphanet:207018	Orphanet:118	\N	"" []	Orphanet:118	"" []	214581	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Beta-mannosidosis
Orphanet:217581	Orphanet:118	\N	"" []	Orphanet:118	"" []	214582	\N	\N	EFO	1	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Beta-mannosidosis
Orphanet:79215	Orphanet:118	\N	"" []	Orphanet:118	"" []	214583	\N	\N	EFO	1	EFO	Oligosaccharidosis	Beta-mannosidosis
Orphanet:93448	Orphanet:118	\N	"" []	Orphanet:118	"" []	214584	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Beta-mannosidosis
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:118	"" []	568600	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Beta-mannosidosis
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:118	"" []	568601	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Beta-mannosidosis
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:118	"" []	568602	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Beta-mannosidosis
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:118	"" []	568603	\N	\N	EFO	2	EFO	Glycoproteinosis	Beta-mannosidosis
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:118	"" []	568604	\N	\N	EFO	2	EFO	Rare genetic bone disease	Beta-mannosidosis
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:118	"" []	1150222	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Beta-mannosidosis
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:118	"" []	1150223	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Beta-mannosidosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:118	"" []	1150224	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Beta-mannosidosis
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:118	"" []	1150225	\N	\N	EFO	3	EFO	Lysosomal disease	Beta-mannosidosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:118	"" []	1150226	\N	\N	EFO	3	EFO	genetic disorder	Beta-mannosidosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:118	"" []	1150227	\N	\N	EFO	3	EFO	bone disease	Beta-mannosidosis
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:118	"" []	2032462	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Beta-mannosidosis
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:118	"" []	2032463	\N	\N	EFO	4	EFO	genetic disorder	Beta-mannosidosis
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:118	"" []	2032464	\N	\N	EFO	4	EFO	heart disease	Beta-mannosidosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:118	"" []	2032465	\N	\N	EFO	4	EFO	genetic disorder	Beta-mannosidosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:118	"" []	2032466	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Beta-mannosidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:118	"" []	4390978	\N	\N	EFO	6	EFO	disease	Beta-mannosidosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:118	"" []	2032468	\N	\N	EFO	4	EFO	skeletal system disease	Beta-mannosidosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:118	"" []	3183010	\N	\N	EFO	5	EFO	genetic disorder	Beta-mannosidosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:118	"" []	3183012	\N	\N	EFO	5	EFO	cardiovascular disease	Beta-mannosidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:118	"" []	3183013	\N	\N	EFO	5	EFO	genetic disorder	Beta-mannosidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:118	"" []	3183014	\N	\N	EFO	5	EFO	metabolic disease	Beta-mannosidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:118	"" []	5059562	\N	\N	EFO	7	EFO	disposition	Beta-mannosidosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:118	"" []	3183016	\N	\N	EFO	5	EFO	disease	Beta-mannosidosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:118	"" []	4390979	\N	\N	EFO	6	EFO	disease	Beta-mannosidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:118	"" []	4390980	\N	\N	EFO	6	EFO	disease	Beta-mannosidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:118	"" []	5876719	\N	\N	EFO	8	EFO	material property	Beta-mannosidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:118	"" []	6469930	\N	\N	EFO	9	EFO	experimental factor	Beta-mannosidosis
Orphanet:1180	\N	\N	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	73359	\N	\N	EFO	0	EFO	Ataxia - hypogonadism - choroidal dystrophy	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:181387	Orphanet:1180	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	214585	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:183518	Orphanet:1180	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	214586	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	568605	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	568606	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	1150228	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	1150229	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	1150230	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Ataxia - hypogonadism - choroidal dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	1150231	\N	\N	EFO	3	EFO	genetic disorder	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	2032469	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	2032470	\N	\N	EFO	4	EFO	Rare genetic male infertility	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	2032471	\N	\N	EFO	4	EFO	Pituitary deficiency	Ataxia - hypogonadism - choroidal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	6148016	\N	\N	EFO	8	EFO	disease	Ataxia - hypogonadism - choroidal dystrophy
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	3183017	\N	\N	EFO	5	EFO	genetic disorder	Ataxia - hypogonadism - choroidal dystrophy
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	3183018	\N	\N	EFO	5	EFO	reproductive system disease	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	3183019	\N	\N	EFO	5	EFO	Genetic infertility	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	3183020	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Ataxia - hypogonadism - choroidal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	6378806	\N	\N	EFO	9	EFO	disposition	Ataxia - hypogonadism - choroidal dystrophy
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	5410216	\N	\N	EFO	7	EFO	disease	Ataxia - hypogonadism - choroidal dystrophy
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	4390984	\N	\N	EFO	6	EFO	genetic disorder	Ataxia - hypogonadism - choroidal dystrophy
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	4390985	\N	\N	EFO	6	EFO	reproductive system disease	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	4390986	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Ataxia - hypogonadism - choroidal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	6778600	\N	\N	EFO	10	EFO	material property	Ataxia - hypogonadism - choroidal dystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	5410217	\N	\N	EFO	7	EFO	genetic disorder	Ataxia - hypogonadism - choroidal dystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	5410218	\N	\N	EFO	7	EFO	endocrine system disease	Ataxia - hypogonadism - choroidal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	7029814	\N	\N	EFO	11	EFO	experimental factor	Ataxia - hypogonadism - choroidal dystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1180	"Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term)." []	6148017	\N	\N	EFO	8	EFO	disease	Ataxia - hypogonadism - choroidal dystrophy
Orphanet:1182	\N	\N	"" []	Orphanet:1182	"" []	73360	\N	\N	EFO	0	EFO	Spastic ataxia with congenital miosis	Spastic ataxia with congenital miosis
Orphanet:316235	Orphanet:1182	\N	"" []	Orphanet:1182	"" []	214587	\N	\N	EFO	1	EFO	Autosomal dominant spastic ataxia	Spastic ataxia with congenital miosis
Orphanet:316226	Orphanet:316235	\N	"" []	Orphanet:1182	"" []	568607	\N	\N	EFO	2	EFO	Spastic ataxia	Spastic ataxia with congenital miosis
Orphanet:183518	Orphanet:316226	\N	"" []	Orphanet:1182	"" []	1150232	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spastic ataxia with congenital miosis
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1182	"" []	2032473	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spastic ataxia with congenital miosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1182	"" []	3183022	\N	\N	EFO	5	EFO	genetic disorder	Spastic ataxia with congenital miosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1182	"" []	4390988	\N	\N	EFO	6	EFO	disease	Spastic ataxia with congenital miosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1182	"" []	5410220	\N	\N	EFO	7	EFO	disposition	Spastic ataxia with congenital miosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1182	"" []	6148018	\N	\N	EFO	8	EFO	material property	Spastic ataxia with congenital miosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1182	"" []	6632042	\N	\N	EFO	9	EFO	experimental factor	Spastic ataxia with congenital miosis
Orphanet:1185	\N	\N	"" []	Orphanet:1185	"" []	73361	\N	\N	EFO	0	EFO	Spinocerebellar ataxia - dysmorphism	Spinocerebellar ataxia - dysmorphism
Orphanet:183518	Orphanet:1185	\N	"" []	Orphanet:1185	"" []	214588	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Spinocerebellar ataxia - dysmorphism
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1185	"" []	568608	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia - dysmorphism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1185	"" []	1150233	\N	\N	EFO	3	EFO	genetic disorder	Spinocerebellar ataxia - dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1185	"" []	2032474	\N	\N	EFO	4	EFO	disease	Spinocerebellar ataxia - dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1185	"" []	3183023	\N	\N	EFO	5	EFO	disposition	Spinocerebellar ataxia - dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1185	"" []	4390989	\N	\N	EFO	6	EFO	material property	Spinocerebellar ataxia - dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1185	"" []	5410221	\N	\N	EFO	7	EFO	experimental factor	Spinocerebellar ataxia - dysmorphism
Orphanet:1186	\N	\N	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	73362	\N	\N	EFO	0	EFO	Infantile onset spinocerebellar ataxia	Infantile onset spinocerebellar ataxia
Orphanet:254871	Orphanet:1186	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	214589	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome, hepatocerebral form	Infantile onset spinocerebellar ataxia
Orphanet:98098	Orphanet:1186	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	214590	\N	\N	EFO	1	EFO	Autosomal recessive degenerative and progressive cerebellar ataxia	Infantile onset spinocerebellar ataxia
Orphanet:35698	Orphanet:254871	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	568609	\N	\N	EFO	2	EFO	Mitochondrial DNA depletion syndrome	Infantile onset spinocerebellar ataxia
Orphanet:1172	Orphanet:98098	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	568610	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Infantile onset spinocerebellar ataxia
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	1150234	\N	\N	EFO	3	EFO	Metabolic disease with intestinal involvement	Infantile onset spinocerebellar ataxia
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	1150235	\N	\N	EFO	3	EFO	Mitochondrial myopathy	Infantile onset spinocerebellar ataxia
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	1150236	\N	\N	EFO	3	EFO	Mitochondrial DNA maintenance syndrome	Infantile onset spinocerebellar ataxia
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	1150237	\N	\N	EFO	3	EFO	Mitochondrial disease with eye involvement	Infantile onset spinocerebellar ataxia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	1150238	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Infantile onset spinocerebellar ataxia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	1150239	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Infantile onset spinocerebellar ataxia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	1150240	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Infantile onset spinocerebellar ataxia
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	2032475	\N	\N	EFO	4	EFO	Genetic intestinal disease	Infantile onset spinocerebellar ataxia
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	2032476	\N	\N	EFO	4	EFO	Muscular lipidosis	Infantile onset spinocerebellar ataxia
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	2032477	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Infantile onset spinocerebellar ataxia
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	2032478	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	Infantile onset spinocerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	2032479	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Infantile onset spinocerebellar ataxia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	2032480	\N	\N	EFO	4	EFO	Ataxia with dementia	Infantile onset spinocerebellar ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	2032481	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Infantile onset spinocerebellar ataxia
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	3183024	\N	\N	EFO	5	EFO	digestive system disease	Infantile onset spinocerebellar ataxia
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	3183025	\N	\N	EFO	5	EFO	Rare genetic gastroenterological disease	Infantile onset spinocerebellar ataxia
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	3183026	\N	\N	EFO	5	EFO	Metabolic myopathy	Infantile onset spinocerebellar ataxia
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	3183027	\N	\N	EFO	5	EFO	Mitochondrial oxidative phosphorylation disorder	Infantile onset spinocerebellar ataxia
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	3183028	\N	\N	EFO	5	EFO	Rare genetic eye disease	Infantile onset spinocerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6925387	\N	\N	EFO	10	EFO	genetic disorder	Infantile onset spinocerebellar ataxia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	3183030	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Infantile onset spinocerebellar ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	3183031	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Infantile onset spinocerebellar ataxia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	4390990	\N	\N	EFO	6	EFO	disease	Infantile onset spinocerebellar ataxia
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	4390991	\N	\N	EFO	6	EFO	genetic disorder	Infantile onset spinocerebellar ataxia
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	4390992	\N	\N	EFO	6	EFO	Non-dystrophic myopathy	Infantile onset spinocerebellar ataxia
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	4390993	\N	\N	EFO	6	EFO	Mitochondrial disease	Infantile onset spinocerebellar ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	5410233	\N	\N	EFO	7	EFO	genetic disorder	Infantile onset spinocerebellar ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	5410234	\N	\N	EFO	7	EFO	eye disease	Infantile onset spinocerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	7015664	\N	\N	EFO	11	EFO	disease	Infantile onset spinocerebellar ataxia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	4390997	\N	\N	EFO	6	EFO	Genetic dementia	Infantile onset spinocerebellar ataxia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	4390998	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Infantile onset spinocerebellar ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	4390999	\N	\N	EFO	6	EFO	Rare genetic eye disease	Infantile onset spinocerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	7173613	\N	\N	EFO	12	EFO	disposition	Infantile onset spinocerebellar ataxia
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	5410224	\N	\N	EFO	7	EFO	Genetic skeletal muscle disease	Infantile onset spinocerebellar ataxia
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	5410225	\N	\N	EFO	7	EFO	Developmental anomaly of metabolic origin	Infantile onset spinocerebellar ataxia
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	5410226	\N	\N	EFO	7	EFO	Disorder of energy metabolism	Infantile onset spinocerebellar ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	5996886	\N	\N	EFO	8	EFO	disease	Infantile onset spinocerebellar ataxia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	5410228	\N	\N	EFO	7	EFO	brain disease	Infantile onset spinocerebellar ataxia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	5410229	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Infantile onset spinocerebellar ataxia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	5410230	\N	\N	EFO	7	EFO	neurodegenerative disease	Infantile onset spinocerebellar ataxia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	5410231	\N	\N	EFO	7	EFO	brain disease	Infantile onset spinocerebellar ataxia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	5410232	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Infantile onset spinocerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	7275666	\N	\N	EFO	13	EFO	material property	Infantile onset spinocerebellar ataxia
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6148020	\N	\N	EFO	8	EFO	Genetic neuromuscular disease	Infantile onset spinocerebellar ataxia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6148021	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Infantile onset spinocerebellar ataxia
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6148022	\N	\N	EFO	8	EFO	Inborn errors of metabolism	Infantile onset spinocerebellar ataxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6148023	\N	\N	EFO	8	EFO	nervous system disease	Infantile onset spinocerebellar ataxia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6148025	\N	\N	EFO	8	EFO	nervous system disease	Infantile onset spinocerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	7349873	\N	\N	EFO	14	EFO	experimental factor	Infantile onset spinocerebellar ataxia
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6632044	\N	\N	EFO	9	EFO	muscular disease	Infantile onset spinocerebellar ataxia
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6632045	\N	\N	EFO	9	EFO	Rare genetic neurological disorder	Infantile onset spinocerebellar ataxia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6632046	\N	\N	EFO	9	EFO	genetic disorder	Infantile onset spinocerebellar ataxia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6632047	\N	\N	EFO	9	EFO	genetic disorder	Infantile onset spinocerebellar ataxia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6632048	\N	\N	EFO	9	EFO	metabolic disease	Infantile onset spinocerebellar ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6632049	\N	\N	EFO	9	EFO	disease	Infantile onset spinocerebellar ataxia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6925386	\N	\N	EFO	10	EFO	skeletal system disease	Infantile onset spinocerebellar ataxia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	6925389	\N	\N	EFO	10	EFO	disease	Infantile onset spinocerebellar ataxia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1186	"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." []	7099005	\N	\N	EFO	11	EFO	disease	Infantile onset spinocerebellar ataxia
Orphanet:1187	\N	\N	"" []	Orphanet:1187	"" []	73363	\N	\N	EFO	0	EFO	Lethal ataxia with deafness and optic atrophy	Lethal ataxia with deafness and optic atrophy
Orphanet:247765	Orphanet:1187	\N	"" []	Orphanet:1187	"" []	214591	\N	\N	EFO	1	EFO	X-linked cerebellar ataxia	Lethal ataxia with deafness and optic atrophy
Orphanet:79191	Orphanet:1187	\N	"" []	Orphanet:1187	"" []	214592	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Lethal ataxia with deafness and optic atrophy
Orphanet:90642	Orphanet:1187	\N	"" []	Orphanet:1187	"" []	214593	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Lethal ataxia with deafness and optic atrophy
Orphanet:98464	Orphanet:1187	\N	"" []	Orphanet:1187	"" []	214594	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Lethal ataxia with deafness and optic atrophy
Orphanet:183518	Orphanet:247765	\N	"" []	Orphanet:1187	"" []	568611	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Lethal ataxia with deafness and optic atrophy
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:1187	"" []	568612	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Lethal ataxia with deafness and optic atrophy
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1187	"" []	568613	\N	\N	EFO	2	EFO	Rare genetic deafness	Lethal ataxia with deafness and optic atrophy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1187	"" []	568614	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Lethal ataxia with deafness and optic atrophy
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1187	"" []	1150241	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Lethal ataxia with deafness and optic atrophy
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:1187	"" []	1150242	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Lethal ataxia with deafness and optic atrophy
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1187	"" []	1150243	\N	\N	EFO	3	EFO	genetic disorder	Lethal ataxia with deafness and optic atrophy
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1187	"" []	1150244	\N	\N	EFO	3	EFO	auditory system disease	Lethal ataxia with deafness and optic atrophy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1187	"" []	1150245	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Lethal ataxia with deafness and optic atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1187	"" []	3183036	\N	\N	EFO	5	EFO	genetic disorder	Lethal ataxia with deafness and optic atrophy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1187	"" []	2032483	\N	\N	EFO	4	EFO	genetic disorder	Lethal ataxia with deafness and optic atrophy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1187	"" []	2032484	\N	\N	EFO	4	EFO	metabolic disease	Lethal ataxia with deafness and optic atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1187	"" []	4133230	\N	\N	EFO	6	EFO	disease	Lethal ataxia with deafness and optic atrophy
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1187	"" []	2032486	\N	\N	EFO	4	EFO	sensory system disease	Lethal ataxia with deafness and optic atrophy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1187	"" []	2032487	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lethal ataxia with deafness and optic atrophy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1187	"" []	3183033	\N	\N	EFO	5	EFO	disease	Lethal ataxia with deafness and optic atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1187	"" []	5059564	\N	\N	EFO	7	EFO	disposition	Lethal ataxia with deafness and optic atrophy
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1187	"" []	3183035	\N	\N	EFO	5	EFO	nervous system disease	Lethal ataxia with deafness and optic atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1187	"" []	5876721	\N	\N	EFO	8	EFO	material property	Lethal ataxia with deafness and optic atrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1187	"" []	4391001	\N	\N	EFO	6	EFO	disease	Lethal ataxia with deafness and optic atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1187	"" []	6469933	\N	\N	EFO	9	EFO	experimental factor	Lethal ataxia with deafness and optic atrophy
Orphanet:1188	\N	\N	"" []	Orphanet:1188	"" []	73364	\N	\N	EFO	0	EFO	Ataxia-deafness-intellectual disability syndrome	Ataxia-deafness-intellectual disability syndrome
Orphanet:247765	Orphanet:1188	\N	"" []	Orphanet:1188	"" []	214595	\N	\N	EFO	1	EFO	X-linked cerebellar ataxia	Ataxia-deafness-intellectual disability syndrome
Orphanet:90642	Orphanet:1188	\N	"" []	Orphanet:1188	"" []	214596	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Ataxia-deafness-intellectual disability syndrome
Orphanet:183518	Orphanet:247765	\N	"" []	Orphanet:1188	"" []	568615	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Ataxia-deafness-intellectual disability syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1188	"" []	568616	\N	\N	EFO	2	EFO	Rare genetic deafness	Ataxia-deafness-intellectual disability syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1188	"" []	1150246	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ataxia-deafness-intellectual disability syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1188	"" []	1150247	\N	\N	EFO	3	EFO	genetic disorder	Ataxia-deafness-intellectual disability syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1188	"" []	1150248	\N	\N	EFO	3	EFO	auditory system disease	Ataxia-deafness-intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1188	"" []	2032488	\N	\N	EFO	4	EFO	genetic disorder	Ataxia-deafness-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1188	"" []	3183037	\N	\N	EFO	5	EFO	disease	Ataxia-deafness-intellectual disability syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1188	"" []	2032490	\N	\N	EFO	4	EFO	sensory system disease	Ataxia-deafness-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1188	"" []	5410237	\N	\N	EFO	7	EFO	disposition	Ataxia-deafness-intellectual disability syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1188	"" []	3183039	\N	\N	EFO	5	EFO	nervous system disease	Ataxia-deafness-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1188	"" []	5876722	\N	\N	EFO	8	EFO	material property	Ataxia-deafness-intellectual disability syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1188	"" []	4391003	\N	\N	EFO	6	EFO	disease	Ataxia-deafness-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1188	"" []	6469934	\N	\N	EFO	9	EFO	experimental factor	Ataxia-deafness-intellectual disability syndrome
Orphanet:119	\N	\N	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	73365	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2E	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:102015	Orphanet:119	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	214597	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:207063	Orphanet:119	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	214598	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of beta-sarcoglycan	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:217610	Orphanet:119	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	214599	\N	\N	EFO	1	EFO	Neuromuscular disease with dilated cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	568617	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:207052	Orphanet:207063	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	568618	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of sarcoglycan	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	568619	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	1150249	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:207049	Orphanet:207052	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	1150250	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2E
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	1150251	\N	\N	EFO	3	EFO	cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	1150252	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	2032491	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	2032492	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2E
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	2032493	\N	\N	EFO	4	EFO	heart disease	Autosomal recessive limb-girdle muscular dystrophy type 2E
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	2032494	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2E
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	2032495	\N	\N	EFO	4	EFO	heart disease	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	3183040	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2E
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	5410238	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	5410239	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2E
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	3183043	\N	\N	EFO	5	EFO	cardiovascular disease	Autosomal recessive limb-girdle muscular dystrophy type 2E
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	6469936	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	4391004	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2E
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	5876723	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2E
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	5876724	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2E
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	4391007	\N	\N	EFO	6	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	6778601	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2E
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	6469935	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	7029816	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:119	"Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." []	7181746	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:1190	\N	\N	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	73366	\N	\N	EFO	0	EFO	Atelosteogenesis type I	Atelosteogenesis type I
Orphanet:138055	Orphanet:1190	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	214600	\N	\N	EFO	1	EFO	Pierre Robin syndrome associated with bone disease	Atelosteogenesis type I
Orphanet:93425	Orphanet:1190	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	214601	\N	\N	EFO	1	EFO	Filamin-related bone disorder	Atelosteogenesis type I
Orphanet:93441	Orphanet:1190	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	214602	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Atelosteogenesis type I
Orphanet:363294	Orphanet:138055	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	568620	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Atelosteogenesis type I
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	568621	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Atelosteogenesis type I
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	568622	\N	\N	EFO	2	EFO	Primary bone dysplasia	Atelosteogenesis type I
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	1150253	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Atelosteogenesis type I
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	1150254	\N	\N	EFO	3	EFO	Rare genetic bone disease	Atelosteogenesis type I
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	1150255	\N	\N	EFO	3	EFO	Rare genetic bone disease	Atelosteogenesis type I
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	1150256	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Atelosteogenesis type I
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	2032496	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Atelosteogenesis type I
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	2032497	\N	\N	EFO	4	EFO	genetic disorder	Atelosteogenesis type I
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	2032498	\N	\N	EFO	4	EFO	bone disease	Atelosteogenesis type I
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	2032499	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Atelosteogenesis type I
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	3183045	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Atelosteogenesis type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	5876726	\N	\N	EFO	8	EFO	disease	Atelosteogenesis type I
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	3183047	\N	\N	EFO	5	EFO	skeletal system disease	Atelosteogenesis type I
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	5410244	\N	\N	EFO	7	EFO	genetic disorder	Atelosteogenesis type I
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	4391009	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Atelosteogenesis type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	6409813	\N	\N	EFO	9	EFO	disposition	Atelosteogenesis type I
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	4391011	\N	\N	EFO	6	EFO	disease	Atelosteogenesis type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	6807669	\N	\N	EFO	10	EFO	material property	Atelosteogenesis type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1190	"Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." []	7048535	\N	\N	EFO	11	EFO	experimental factor	Atelosteogenesis type I
Orphanet:1192	\N	\N	"" []	Orphanet:1192	"" []	73367	\N	\N	EFO	0	EFO	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
Orphanet:166463	Orphanet:1192	\N	"" []	Orphanet:1192	"" []	214603	\N	\N	EFO	1	EFO	Epilepsy syndrome	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
Orphanet:90642	Orphanet:1192	\N	"" []	Orphanet:1192	"" []	214604	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
Orphanet:93547	Orphanet:1192	\N	"" []	Orphanet:1192	"" []	214605	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:1192	"" []	568623	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1192	"" []	568624	\N	\N	EFO	2	EFO	Rare genetic deafness	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1192	"" []	568625	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1192	"" []	1150257	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1192	"" []	1150258	\N	\N	EFO	3	EFO	genetic disorder	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1192	"" []	1150259	\N	\N	EFO	3	EFO	auditory system disease	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1192	"" []	1150260	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1192	"" []	1150261	\N	\N	EFO	3	EFO	Rare genetic renal disease	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1192	"" []	2032500	\N	\N	EFO	4	EFO	genetic disorder	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1192	"" []	3183049	\N	\N	EFO	5	EFO	disease	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1192	"" []	2032502	\N	\N	EFO	4	EFO	sensory system disease	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1192	"" []	2032503	\N	\N	EFO	4	EFO	genetic disorder	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1192	"" []	2032504	\N	\N	EFO	4	EFO	genetic disorder	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1192	"" []	5410247	\N	\N	EFO	7	EFO	disposition	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1192	"" []	3183051	\N	\N	EFO	5	EFO	nervous system disease	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1192	"" []	5876727	\N	\N	EFO	8	EFO	material property	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1192	"" []	4391014	\N	\N	EFO	6	EFO	disease	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1192	"" []	6469938	\N	\N	EFO	9	EFO	experimental factor	Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
Orphanet:1193	\N	\N	"" []	Orphanet:1193	"" []	73368	\N	\N	EFO	0	EFO	Atkin-Flaitz syndrome	Atkin-Flaitz syndrome
Orphanet:102283	Orphanet:1193	\N	"" []	Orphanet:1193	"" []	214606	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Atkin-Flaitz syndrome
Orphanet:98464	Orphanet:1193	\N	"" []	Orphanet:1193	"" []	214607	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Atkin-Flaitz syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1193	"" []	568626	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Atkin-Flaitz syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1193	"" []	568627	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Atkin-Flaitz syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1193	"" []	1150262	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Atkin-Flaitz syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1193	"" []	1150263	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Atkin-Flaitz syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1193	"" []	2032505	\N	\N	EFO	4	EFO	genetic disorder	Atkin-Flaitz syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1193	"" []	2032506	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Atkin-Flaitz syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1193	"" []	4391016	\N	\N	EFO	6	EFO	disease	Atkin-Flaitz syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1193	"" []	3183053	\N	\N	EFO	5	EFO	genetic disorder	Atkin-Flaitz syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1193	"" []	5181511	\N	\N	EFO	7	EFO	disposition	Atkin-Flaitz syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1193	"" []	5996893	\N	\N	EFO	8	EFO	material property	Atkin-Flaitz syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1193	"" []	6550489	\N	\N	EFO	9	EFO	experimental factor	Atkin-Flaitz syndrome
Orphanet:1194	\N	\N	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	73369	\N	\N	EFO	0	EFO	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
Orphanet:309136	Orphanet:1194	\N	"" []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	214608	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	568628	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	1150264	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	2032507	\N	\N	EFO	4	EFO	Mitochondrial disease	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	3183054	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	3183055	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	4391017	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	4391018	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	5410249	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	5410250	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	5410251	\N	\N	EFO	7	EFO	metabolic disease	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	6148029	\N	\N	EFO	8	EFO	disease	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	6148030	\N	\N	EFO	8	EFO	disease	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	6632050	\N	\N	EFO	9	EFO	disposition	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	6925390	\N	\N	EFO	10	EFO	material property	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1194	" mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." []	7099006	\N	\N	EFO	11	EFO	experimental factor	Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
Orphanet:1195	\N	\N	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	73370	\N	\N	EFO	0	EFO	Congenital atransferrinemia	Congenital atransferrinemia
Orphanet:309842	Orphanet:1195	\N	"" []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	214609	\N	\N	EFO	1	EFO	Disorder of iron metabolism and transport	Congenital atransferrinemia
Orphanet:98360	Orphanet:1195	\N	"" []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	214610	\N	\N	EFO	1	EFO	Constitutional anemia due to iron metabolism disorder	Congenital atransferrinemia
Orphanet:309836	Orphanet:309842	\N	"" []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	568629	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Congenital atransferrinemia
Orphanet:248296	Orphanet:98360	\N	"" []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	568630	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Congenital atransferrinemia
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	1150265	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Congenital atransferrinemia
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	1150266	\N	\N	EFO	3	EFO	Rare constitutional anemia	Congenital atransferrinemia
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	2032508	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital atransferrinemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	2032509	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Congenital atransferrinemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	3183056	\N	\N	EFO	5	EFO	genetic disorder	Congenital atransferrinemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	3183057	\N	\N	EFO	5	EFO	metabolic disease	Congenital atransferrinemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	3183058	\N	\N	EFO	5	EFO	genetic disorder	Congenital atransferrinemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	3183059	\N	\N	EFO	5	EFO	hematological system disease	Congenital atransferrinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	4391019	\N	\N	EFO	6	EFO	disease	Congenital atransferrinemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	4391020	\N	\N	EFO	6	EFO	disease	Congenital atransferrinemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	4391021	\N	\N	EFO	6	EFO	disease	Congenital atransferrinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	5410252	\N	\N	EFO	7	EFO	disposition	Congenital atransferrinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	6148031	\N	\N	EFO	8	EFO	material property	Congenital atransferrinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1195	"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." []	6632051	\N	\N	EFO	9	EFO	experimental factor	Congenital atransferrinemia
Orphanet:1198	\N	\N	"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." []	Orphanet:1198	"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." []	73371	\N	\N	EFO	0	EFO	Colonic atresia	Colonic atresia
Orphanet:108967	Orphanet:1198	\N	"" []	Orphanet:1198	"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." []	214611	\N	\N	EFO	1	EFO	Non-syndromic intestinal malformation	Colonic atresia
Orphanet:97945	Orphanet:108967	\N	"" []	Orphanet:1198	"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." []	568631	\N	\N	EFO	2	EFO	Intestinal malformation	Colonic atresia
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:1198	"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." []	1150267	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Colonic atresia
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1198	"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." []	2032510	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Colonic atresia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1198	"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." []	3183060	\N	\N	EFO	5	EFO	genetic disorder	Colonic atresia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1198	"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." []	4391022	\N	\N	EFO	6	EFO	disease	Colonic atresia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1198	"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." []	5410253	\N	\N	EFO	7	EFO	disposition	Colonic atresia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1198	"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." []	6148032	\N	\N	EFO	8	EFO	material property	Colonic atresia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1198	"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." []	6632052	\N	\N	EFO	9	EFO	experimental factor	Colonic atresia
Orphanet:1200	\N	\N	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	73372	\N	\N	EFO	0	EFO	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
Orphanet:330206	Orphanet:1200	\N	"" []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	214612	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
Orphanet:90642	Orphanet:1200	\N	"" []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	214613	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	568632	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	568633	\N	\N	EFO	2	EFO	Rare genetic deafness	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	1150268	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	1150269	\N	\N	EFO	3	EFO	genetic disorder	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	1150270	\N	\N	EFO	3	EFO	auditory system disease	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	2032511	\N	\N	EFO	4	EFO	genetic disorder	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	3183061	\N	\N	EFO	5	EFO	disease	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	2032513	\N	\N	EFO	4	EFO	sensory system disease	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	5410255	\N	\N	EFO	7	EFO	disposition	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	3183063	\N	\N	EFO	5	EFO	nervous system disease	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	5876728	\N	\N	EFO	8	EFO	material property	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	4391024	\N	\N	EFO	6	EFO	disease	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1200	"Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." []	6469939	\N	\N	EFO	9	EFO	experimental factor	Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
Orphanet:1201	\N	\N	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	73373	\N	\N	EFO	0	EFO	Atresia of small intestine	Atresia of small intestine
Orphanet:108967	Orphanet:1201	\N	"" []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	214614	\N	\N	EFO	1	EFO	Non-syndromic intestinal malformation	Atresia of small intestine
Orphanet:365563	Orphanet:1201	\N	"" []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	214615	\N	\N	EFO	1	EFO	Primary short bowel syndrome	Atresia of small intestine
Orphanet:97945	Orphanet:108967	\N	"" []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	568634	\N	\N	EFO	2	EFO	Intestinal malformation	Atresia of small intestine
Orphanet:165655	Orphanet:365563	\N	"" []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	568635	\N	\N	EFO	2	EFO	Genetic intestinal disease	Atresia of small intestine
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	1150271	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Atresia of small intestine
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	1150272	\N	\N	EFO	3	EFO	digestive system disease	Atresia of small intestine
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	1150273	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Atresia of small intestine
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	2032514	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Atresia of small intestine
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	2032515	\N	\N	EFO	4	EFO	disease	Atresia of small intestine
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	2032516	\N	\N	EFO	4	EFO	genetic disorder	Atresia of small intestine
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	3183064	\N	\N	EFO	5	EFO	genetic disorder	Atresia of small intestine
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	5181514	\N	\N	EFO	7	EFO	disposition	Atresia of small intestine
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	4391025	\N	\N	EFO	6	EFO	disease	Atresia of small intestine
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	5876729	\N	\N	EFO	8	EFO	material property	Atresia of small intestine
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1201	"Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." []	6469940	\N	\N	EFO	9	EFO	experimental factor	Atresia of small intestine
Orphanet:1202	\N	\N	"" []	Orphanet:1202	"" []	73374	\N	\N	EFO	0	EFO	Larynx atresia	Larynx atresia
Orphanet:156249	Orphanet:1202	\N	"" []	Orphanet:1202	"" []	214616	\N	\N	EFO	1	EFO	Larynx anomaly	Larynx atresia
Orphanet:96333	Orphanet:156249	\N	"" []	Orphanet:1202	"" []	568636	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Larynx atresia
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1202	"" []	1150274	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Larynx atresia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1202	"" []	2032517	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Larynx atresia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1202	"" []	3183067	\N	\N	EFO	5	EFO	genetic disorder	Larynx atresia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1202	"" []	4391028	\N	\N	EFO	6	EFO	disease	Larynx atresia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1202	"" []	5410257	\N	\N	EFO	7	EFO	disposition	Larynx atresia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1202	"" []	6148033	\N	\N	EFO	8	EFO	material property	Larynx atresia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1202	"" []	6632053	\N	\N	EFO	9	EFO	experimental factor	Larynx atresia
Orphanet:1203	\N	\N	"Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." []	Orphanet:1203	"Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." []	73375	\N	\N	EFO	0	EFO	Duodenal atresia	Duodenal atresia
Orphanet:108963	Orphanet:1203	\N	"" []	Orphanet:1203	"Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." []	214617	\N	\N	EFO	1	EFO	Non-syndromic gastroduodenal malformation	Duodenal atresia
Orphanet:97944	Orphanet:108963	\N	"" []	Orphanet:1203	"Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." []	568637	\N	\N	EFO	2	EFO	Gastroduodenal malformation	Duodenal atresia
Orphanet:183545	Orphanet:97944	\N	"" []	Orphanet:1203	"Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." []	1150275	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Duodenal atresia
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1203	"Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." []	2032518	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Duodenal atresia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1203	"Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." []	3183068	\N	\N	EFO	5	EFO	genetic disorder	Duodenal atresia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1203	"Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." []	4391029	\N	\N	EFO	6	EFO	disease	Duodenal atresia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1203	"Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." []	5410258	\N	\N	EFO	7	EFO	disposition	Duodenal atresia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1203	"Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." []	6148034	\N	\N	EFO	8	EFO	material property	Duodenal atresia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1203	"Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." []	6632054	\N	\N	EFO	9	EFO	experimental factor	Duodenal atresia
Orphanet:1215	\N	\N	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	73376	\N	\N	EFO	0	EFO	Autosomal dominant optic atrophy plus syndrome	Autosomal dominant optic atrophy plus syndrome
Orphanet:140456	Orphanet:1215	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	214618	\N	\N	EFO	1	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant optic atrophy plus syndrome
Orphanet:254807	Orphanet:1215	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	214619	\N	\N	EFO	1	EFO	Multiple mitochondrial DNA deletion syndrome	Autosomal dominant optic atrophy plus syndrome
Orphanet:98672	Orphanet:1215	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	214620	\N	\N	EFO	1	EFO	Autosomal dominant optic atrophy	Autosomal dominant optic atrophy plus syndrome
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	568638	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant optic atrophy plus syndrome
Orphanet:352456	Orphanet:254807	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	568639	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Autosomal dominant optic atrophy plus syndrome
Orphanet:103	Orphanet:98672	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	568640	\N	\N	EFO	2	EFO	Genetic optic atrophy	Autosomal dominant optic atrophy plus syndrome
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	1150276	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal dominant optic atrophy plus syndrome
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	1150277	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant optic atrophy plus syndrome
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	1150278	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal dominant optic atrophy plus syndrome
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	1150279	\N	\N	EFO	3	EFO	Optic neuropathy	Autosomal dominant optic atrophy plus syndrome
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	2032519	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal dominant optic atrophy plus syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	2032520	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant optic atrophy plus syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	2032521	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal dominant optic atrophy plus syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	2032522	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal dominant optic atrophy plus syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	3183069	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant optic atrophy plus syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	3183070	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant optic atrophy plus syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	3183071	\N	\N	EFO	5	EFO	Mitochondrial disease	Autosomal dominant optic atrophy plus syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	3183072	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant optic atrophy plus syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	3183073	\N	\N	EFO	5	EFO	eye disease	Autosomal dominant optic atrophy plus syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	4391030	\N	\N	EFO	6	EFO	disease	Autosomal dominant optic atrophy plus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	6632056	\N	\N	EFO	9	EFO	disease	Autosomal dominant optic atrophy plus syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	4391032	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Autosomal dominant optic atrophy plus syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	4391033	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Autosomal dominant optic atrophy plus syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	4391034	\N	\N	EFO	6	EFO	disease	Autosomal dominant optic atrophy plus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	6807670	\N	\N	EFO	10	EFO	disposition	Autosomal dominant optic atrophy plus syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	5410260	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant optic atrophy plus syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	5410261	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Autosomal dominant optic atrophy plus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	7048536	\N	\N	EFO	11	EFO	material property	Autosomal dominant optic atrophy plus syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	6148036	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant optic atrophy plus syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	6148037	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant optic atrophy plus syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	6148038	\N	\N	EFO	8	EFO	metabolic disease	Autosomal dominant optic atrophy plus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	7190186	\N	\N	EFO	12	EFO	experimental factor	Autosomal dominant optic atrophy plus syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1215	"Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." []	6632057	\N	\N	EFO	9	EFO	disease	Autosomal dominant optic atrophy plus syndrome
Orphanet:1216	\N	\N	"" []	Orphanet:1216	"" []	73377	\N	\N	EFO	0	EFO	Autosomal dominant congenital benign spinal muscular atrophy	Autosomal dominant congenital benign spinal muscular atrophy
Orphanet:140465	Orphanet:1216	\N	"" []	Orphanet:1216	"" []	214621	\N	\N	EFO	1	EFO	Autosomal dominant distal hereditary motor neuropathy	Autosomal dominant congenital benign spinal muscular atrophy
Orphanet:206713	Orphanet:140465	\N	"" []	Orphanet:1216	"" []	568641	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	Autosomal dominant congenital benign spinal muscular atrophy
Orphanet:53739	Orphanet:140465	\N	"" []	Orphanet:1216	"" []	568642	\N	\N	EFO	2	EFO	Distal hereditary motor neuropathy	Autosomal dominant congenital benign spinal muscular atrophy
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:1216	"" []	1150280	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Autosomal dominant congenital benign spinal muscular atrophy
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:1216	"" []	1150281	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant congenital benign spinal muscular atrophy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:1216	"" []	2032523	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal dominant congenital benign spinal muscular atrophy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:1216	"" []	2032524	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant congenital benign spinal muscular atrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:1216	"" []	3183074	\N	\N	EFO	5	EFO	muscular disease	Autosomal dominant congenital benign spinal muscular atrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:1216	"" []	3183075	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant congenital benign spinal muscular atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1216	"" []	4391036	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant congenital benign spinal muscular atrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1216	"" []	4391035	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal dominant congenital benign spinal muscular atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1216	"" []	5181515	\N	\N	EFO	7	EFO	disease	Autosomal dominant congenital benign spinal muscular atrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1216	"" []	5410262	\N	\N	EFO	7	EFO	disease	Autosomal dominant congenital benign spinal muscular atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1216	"" []	5996896	\N	\N	EFO	8	EFO	disposition	Autosomal dominant congenital benign spinal muscular atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1216	"" []	6550490	\N	\N	EFO	9	EFO	material property	Autosomal dominant congenital benign spinal muscular atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1216	"" []	6889017	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant congenital benign spinal muscular atrophy
Orphanet:1217	\N	\N	"" []	Orphanet:1217	"" []	73378	\N	\N	EFO	0	EFO	Spinal atrophy - ophthalmoplegia - pyramidal syndrome	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
Orphanet:206710	Orphanet:1217	\N	"" []	Orphanet:1217	"" []	214622	\N	\N	EFO	1	EFO	Generalized bulbospinal muscular atrophy	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
Orphanet:206701	Orphanet:206710	\N	"" []	Orphanet:1217	"" []	568643	\N	\N	EFO	2	EFO	Bulbospinal muscular atrophy	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:1217	"" []	1150282	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:1217	"" []	2032525	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:1217	"" []	3183077	\N	\N	EFO	5	EFO	muscular disease	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:1217	"" []	3183078	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1217	"" []	4391038	\N	\N	EFO	6	EFO	skeletal system disease	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1217	"" []	4391039	\N	\N	EFO	6	EFO	genetic disorder	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1217	"" []	5410264	\N	\N	EFO	7	EFO	disease	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1217	"" []	5410265	\N	\N	EFO	7	EFO	disease	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1217	"" []	6148040	\N	\N	EFO	8	EFO	disposition	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1217	"" []	6632059	\N	\N	EFO	9	EFO	material property	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1217	"" []	6925391	\N	\N	EFO	10	EFO	experimental factor	Spinal atrophy - ophthalmoplegia - pyramidal syndrome
Orphanet:122	\N	\N	"" []	Orphanet:122	"" []	73379	\N	\N	EFO	0	EFO	Birt-Hogg-Dub syndrome	Birt-Hogg-Dub syndrome
Orphanet:183487	Orphanet:122	\N	"" []	Orphanet:122	"" []	214623	\N	\N	EFO	1	EFO	Genetic skin tumor	Birt-Hogg-Dub syndrome
Orphanet:319328	Orphanet:122	\N	"" []	Orphanet:122	"" []	214624	\N	\N	EFO	1	EFO	Inherited renal cancer-predisposing syndrome	Birt-Hogg-Dub syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:122	"" []	568644	\N	\N	EFO	2	EFO	skin neoplasm	Birt-Hogg-Dub syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:122	"" []	568645	\N	\N	EFO	2	EFO	Rare genetic tumor	Birt-Hogg-Dub syndrome
Orphanet:140162	Orphanet:319328	\N	"" []	Orphanet:122	"" []	568646	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Birt-Hogg-Dub syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:122	"" []	1150283	\N	\N	EFO	3	EFO	neoplasm	Birt-Hogg-Dub syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:122	"" []	1150284	\N	\N	EFO	3	EFO	skin disease	Birt-Hogg-Dub syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:122	"" []	1150285	\N	\N	EFO	3	EFO	genetic disorder	Birt-Hogg-Dub syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:122	"" []	1150286	\N	\N	EFO	3	EFO	neoplasm	Birt-Hogg-Dub syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:122	"" []	1150287	\N	\N	EFO	3	EFO	genetic disorder	Birt-Hogg-Dub syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:122	"" []	2032526	\N	\N	EFO	4	EFO	disease	Birt-Hogg-Dub syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:122	"" []	2032527	\N	\N	EFO	4	EFO	disease	Birt-Hogg-Dub syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:122	"" []	2032528	\N	\N	EFO	4	EFO	disease	Birt-Hogg-Dub syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:122	"" []	3183079	\N	\N	EFO	5	EFO	disposition	Birt-Hogg-Dub syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:122	"" []	4391040	\N	\N	EFO	6	EFO	material property	Birt-Hogg-Dub syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:122	"" []	5410266	\N	\N	EFO	7	EFO	experimental factor	Birt-Hogg-Dub syndrome
Orphanet:1225	\N	\N	"" []	Orphanet:1225	"" []	73380	\N	\N	EFO	0	EFO	Baller-Gerold syndrome	Baller-Gerold syndrome
Orphanet:117573	Orphanet:1225	\N	"" []	Orphanet:1225	"" []	214625	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Baller-Gerold syndrome
Orphanet:139393	Orphanet:1225	\N	"" []	Orphanet:1225	"" []	214626	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Baller-Gerold syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:1225	"" []	568647	\N	\N	EFO	2	EFO	Anorectal malformation	Baller-Gerold syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1225	"" []	568648	\N	\N	EFO	2	EFO	Craniosynostosis	Baller-Gerold syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:1225	"" []	1150288	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Baller-Gerold syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1225	"" []	1150289	\N	\N	EFO	3	EFO	Genetic cranial malformation	Baller-Gerold syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1225	"" []	1150290	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Baller-Gerold syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1225	"" []	2032529	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Baller-Gerold syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1225	"" []	2032530	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Baller-Gerold syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1225	"" []	2032531	\N	\N	EFO	4	EFO	Rare genetic bone disease	Baller-Gerold syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1225	"" []	2032532	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Baller-Gerold syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1225	"" []	4391043	\N	\N	EFO	6	EFO	genetic disorder	Baller-Gerold syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1225	"" []	3183081	\N	\N	EFO	5	EFO	genetic disorder	Baller-Gerold syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1225	"" []	3183082	\N	\N	EFO	5	EFO	bone disease	Baller-Gerold syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1225	"" []	3183083	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Baller-Gerold syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1225	"" []	5181516	\N	\N	EFO	7	EFO	disease	Baller-Gerold syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1225	"" []	4391042	\N	\N	EFO	6	EFO	skeletal system disease	Baller-Gerold syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1225	"" []	5996897	\N	\N	EFO	8	EFO	disposition	Baller-Gerold syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1225	"" []	5410268	\N	\N	EFO	7	EFO	disease	Baller-Gerold syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1225	"" []	6550491	\N	\N	EFO	9	EFO	material property	Baller-Gerold syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1225	"" []	6889018	\N	\N	EFO	10	EFO	experimental factor	Baller-Gerold syndrome
Orphanet:1226	\N	\N	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	73381	\N	\N	EFO	0	EFO	Bamforth-Lazarus syndrome	Bamforth-Lazarus syndrome
Orphanet:139039	Orphanet:1226	\N	"" []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	214627	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Bamforth-Lazarus syndrome
Orphanet:177107	Orphanet:1226	\N	"" []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	214628	\N	\N	EFO	1	EFO	Syndromic hypothyroidism	Bamforth-Lazarus syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	568649	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Bamforth-Lazarus syndrome
Orphanet:226292	Orphanet:177107	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	568650	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Bamforth-Lazarus syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	1150291	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Bamforth-Lazarus syndrome
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	1150292	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Bamforth-Lazarus syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	2032533	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Bamforth-Lazarus syndrome
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	2032534	\N	\N	EFO	4	EFO	Rare hypothyroidism	Bamforth-Lazarus syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	3183084	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Bamforth-Lazarus syndrome
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	3183085	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Bamforth-Lazarus syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	4391044	\N	\N	EFO	6	EFO	genetic disorder	Bamforth-Lazarus syndrome
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	4391045	\N	\N	EFO	6	EFO	thyroid disease	Bamforth-Lazarus syndrome
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	4391046	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Bamforth-Lazarus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	6148044	\N	\N	EFO	8	EFO	disease	Bamforth-Lazarus syndrome
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	5410270	\N	\N	EFO	7	EFO	endocrine system disease	Bamforth-Lazarus syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	5410271	\N	\N	EFO	7	EFO	genetic disorder	Bamforth-Lazarus syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	5410272	\N	\N	EFO	7	EFO	endocrine system disease	Bamforth-Lazarus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	6550492	\N	\N	EFO	9	EFO	disposition	Bamforth-Lazarus syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	6148043	\N	\N	EFO	8	EFO	disease	Bamforth-Lazarus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	6889019	\N	\N	EFO	10	EFO	material property	Bamforth-Lazarus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1226	"Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." []	7085900	\N	\N	EFO	11	EFO	experimental factor	Bamforth-Lazarus syndrome
Orphanet:1227	\N	\N	"" []	Orphanet:1227	"" []	73382	\N	\N	EFO	0	EFO	Bangstad syndrome	Bangstad syndrome
Orphanet:183643	Orphanet:1227	\N	"" []	Orphanet:1227	"" []	214629	\N	\N	EFO	1	EFO	Genetic polyendocrinopathy	Bangstad syndrome
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:1227	"" []	568651	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Bangstad syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1227	"" []	1150293	\N	\N	EFO	3	EFO	genetic disorder	Bangstad syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1227	"" []	1150294	\N	\N	EFO	3	EFO	endocrine system disease	Bangstad syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1227	"" []	2032535	\N	\N	EFO	4	EFO	disease	Bangstad syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1227	"" []	2032536	\N	\N	EFO	4	EFO	disease	Bangstad syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1227	"" []	3183086	\N	\N	EFO	5	EFO	disposition	Bangstad syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1227	"" []	4391047	\N	\N	EFO	6	EFO	material property	Bangstad syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1227	"" []	5410273	\N	\N	EFO	7	EFO	experimental factor	Bangstad syndrome
Orphanet:1228	\N	\N	"" []	Orphanet:1228	"" []	73383	\N	\N	EFO	0	EFO	Banki syndrome	Banki syndrome
Orphanet:93459	Orphanet:1228	\N	"" []	Orphanet:1228	"" []	214630	\N	\N	EFO	1	EFO	Syndrome with synostosis or other joint formation defect	Banki syndrome
Orphanet:404571	Orphanet:93459	\N	"" []	Orphanet:1228	"" []	568652	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Banki syndrome
Orphanet:404577	Orphanet:93459	\N	"" []	Orphanet:1228	"" []	568653	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Banki syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1228	"" []	1150295	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Banki syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1228	"" []	1150296	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Banki syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1228	"" []	2032537	\N	\N	EFO	4	EFO	Rare genetic bone disease	Banki syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1228	"" []	2032538	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Banki syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1228	"" []	2032539	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Banki syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1228	"" []	3183087	\N	\N	EFO	5	EFO	genetic disorder	Banki syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1228	"" []	3183088	\N	\N	EFO	5	EFO	bone disease	Banki syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1228	"" []	3183089	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Banki syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1228	"" []	4391050	\N	\N	EFO	6	EFO	genetic disorder	Banki syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1228	"" []	5181517	\N	\N	EFO	7	EFO	disease	Banki syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1228	"" []	4391049	\N	\N	EFO	6	EFO	skeletal system disease	Banki syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1228	"" []	5996898	\N	\N	EFO	8	EFO	disposition	Banki syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1228	"" []	5410275	\N	\N	EFO	7	EFO	disease	Banki syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1228	"" []	6550493	\N	\N	EFO	9	EFO	material property	Banki syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1228	"" []	6889020	\N	\N	EFO	10	EFO	experimental factor	Banki syndrome
Orphanet:1229	\N	\N	"" []	Orphanet:1229	"" []	73384	\N	\N	EFO	0	EFO	Congenital intrauterine infection-like syndrome	Congenital intrauterine infection-like syndrome
Orphanet:71859	Orphanet:1229	\N	"" []	Orphanet:1229	"" []	214631	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Congenital intrauterine infection-like syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1229	"" []	568654	\N	\N	EFO	2	EFO	genetic disorder	Congenital intrauterine infection-like syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1229	"" []	1150297	\N	\N	EFO	3	EFO	disease	Congenital intrauterine infection-like syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1229	"" []	2032540	\N	\N	EFO	4	EFO	disposition	Congenital intrauterine infection-like syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1229	"" []	3183091	\N	\N	EFO	5	EFO	material property	Congenital intrauterine infection-like syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1229	"" []	4391051	\N	\N	EFO	6	EFO	experimental factor	Congenital intrauterine infection-like syndrome
Orphanet:123	\N	\N	"" []	Orphanet:123	"" []	73385	\N	\N	EFO	0	EFO	Bjrnstad syndrome	Bjrnstad syndrome
Orphanet:309136	Orphanet:123	\N	"" []	Orphanet:123	"" []	214632	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Bjrnstad syndrome
Orphanet:79366	Orphanet:123	\N	"" []	Orphanet:123	"" []	214633	\N	\N	EFO	1	EFO	Isolated hair shaft abnormality	Bjrnstad syndrome
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:123	"" []	568655	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Bjrnstad syndrome
Orphanet:183450	Orphanet:79366	\N	"" []	Orphanet:123	"" []	568656	\N	\N	EFO	2	EFO	Genetic hair anomaly	Bjrnstad syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:123	"" []	1150298	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Bjrnstad syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:123	"" []	1150299	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Bjrnstad syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:123	"" []	2032541	\N	\N	EFO	4	EFO	Mitochondrial disease	Bjrnstad syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:123	"" []	2032542	\N	\N	EFO	4	EFO	Rare genetic skin disease	Bjrnstad syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:123	"" []	3183092	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Bjrnstad syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:123	"" []	3183093	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Bjrnstad syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:123	"" []	3183094	\N	\N	EFO	5	EFO	genetic disorder	Bjrnstad syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:123	"" []	3183095	\N	\N	EFO	5	EFO	skin disease	Bjrnstad syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:123	"" []	4391052	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Bjrnstad syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:123	"" []	4391053	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Bjrnstad syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:123	"" []	6148046	\N	\N	EFO	8	EFO	disease	Bjrnstad syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:123	"" []	4391055	\N	\N	EFO	6	EFO	disease	Bjrnstad syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:123	"" []	5410276	\N	\N	EFO	7	EFO	genetic disorder	Bjrnstad syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:123	"" []	5410277	\N	\N	EFO	7	EFO	genetic disorder	Bjrnstad syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:123	"" []	5410278	\N	\N	EFO	7	EFO	metabolic disease	Bjrnstad syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:123	"" []	6469941	\N	\N	EFO	9	EFO	disposition	Bjrnstad syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:123	"" []	6148047	\N	\N	EFO	8	EFO	disease	Bjrnstad syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:123	"" []	6848262	\N	\N	EFO	10	EFO	material property	Bjrnstad syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:123	"" []	7068379	\N	\N	EFO	11	EFO	experimental factor	Bjrnstad syndrome
Orphanet:1231	\N	\N	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	73386	\N	\N	EFO	0	EFO	Barber-Say syndrome	Barber-Say syndrome
Orphanet:108987	Orphanet:1231	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	214634	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Barber-Say syndrome
Orphanet:330206	Orphanet:1231	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	214635	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Barber-Say syndrome
Orphanet:79365	Orphanet:1231	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	214636	\N	\N	EFO	1	EFO	Hypertrichosis	Barber-Say syndrome
Orphanet:98563	Orphanet:1231	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	214637	\N	\N	EFO	1	EFO	Microblepharon - ablephara	Barber-Say syndrome
Orphanet:98568	Orphanet:1231	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	214638	\N	\N	EFO	1	EFO	Congenital entropion	Barber-Say syndrome
Orphanet:98571	Orphanet:1231	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	214639	\N	\N	EFO	1	EFO	Secondary ectropion	Barber-Say syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	568657	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Barber-Say syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	568658	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Barber-Say syndrome
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	568659	\N	\N	EFO	2	EFO	Genetic hair anomaly	Barber-Say syndrome
Orphanet:98561	Orphanet:98563	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	568660	\N	\N	EFO	2	EFO	Eyelid malformation	Barber-Say syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	568661	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Barber-Say syndrome
Orphanet:98567	Orphanet:98571	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	568662	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Barber-Say syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	1150300	\N	\N	EFO	3	EFO	Rare genetic eye disease	Barber-Say syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	1150301	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Barber-Say syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	1150302	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Barber-Say syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	1150303	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Barber-Say syndrome
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	1150304	\N	\N	EFO	3	EFO	Rare palpebral disease	Barber-Say syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	1150305	\N	\N	EFO	3	EFO	Rare palpebral disease	Barber-Say syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	4391059	\N	\N	EFO	6	EFO	genetic disorder	Barber-Say syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	4391060	\N	\N	EFO	6	EFO	eye disease	Barber-Say syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	2032545	\N	\N	EFO	4	EFO	genetic disorder	Barber-Say syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	2032546	\N	\N	EFO	4	EFO	Rare genetic skin disease	Barber-Say syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	2032547	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Barber-Say syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	5059565	\N	\N	EFO	7	EFO	disease	Barber-Say syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	5059566	\N	\N	EFO	7	EFO	disease	Barber-Say syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	3183098	\N	\N	EFO	5	EFO	genetic disorder	Barber-Say syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	3183099	\N	\N	EFO	5	EFO	skin disease	Barber-Say syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	3183100	\N	\N	EFO	5	EFO	Rare genetic eye disease	Barber-Say syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	5876730	\N	\N	EFO	8	EFO	disposition	Barber-Say syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	4391058	\N	\N	EFO	6	EFO	disease	Barber-Say syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	6469942	\N	\N	EFO	9	EFO	material property	Barber-Say syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1231	"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." []	6848263	\N	\N	EFO	10	EFO	experimental factor	Barber-Say syndrome
Orphanet:1234	\N	\N	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	73387	\N	\N	EFO	0	EFO	Bartsocas-Papas syndrome	Bartsocas-Papas syndrome
Orphanet:183533	Orphanet:1234	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	214640	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Bartsocas-Papas syndrome
Orphanet:294963	Orphanet:1234	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	214641	\N	\N	EFO	1	EFO	Popliteal pterygium syndrome	Bartsocas-Papas syndrome
Orphanet:79373	Orphanet:1234	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	214642	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Bartsocas-Papas syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	568663	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Bartsocas-Papas syndrome
Orphanet:109007	Orphanet:294963	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	568664	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Bartsocas-Papas syndrome
Orphanet:156237	Orphanet:294963	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	568665	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Bartsocas-Papas syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	568666	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Bartsocas-Papas syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	568667	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Bartsocas-Papas syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	4391062	\N	\N	EFO	6	EFO	genetic disorder	Bartsocas-Papas syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	1150307	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Bartsocas-Papas syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	1150308	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Bartsocas-Papas syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	1150309	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bartsocas-Papas syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	1150310	\N	\N	EFO	3	EFO	Rare genetic skin disease	Bartsocas-Papas syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	5028382	\N	\N	EFO	7	EFO	disease	Bartsocas-Papas syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	2032549	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Bartsocas-Papas syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	2032550	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Bartsocas-Papas syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	2032552	\N	\N	EFO	4	EFO	genetic disorder	Bartsocas-Papas syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	2032553	\N	\N	EFO	4	EFO	skin disease	Bartsocas-Papas syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	5817455	\N	\N	EFO	8	EFO	disposition	Bartsocas-Papas syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	3183102	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Bartsocas-Papas syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	3183103	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Bartsocas-Papas syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	3183104	\N	\N	EFO	5	EFO	disease	Bartsocas-Papas syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	6409814	\N	\N	EFO	9	EFO	material property	Bartsocas-Papas syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1234	"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." []	6807671	\N	\N	EFO	10	EFO	experimental factor	Bartsocas-Papas syndrome
Orphanet:1237	\N	\N	"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." []	Orphanet:1237	"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." []	73388	\N	\N	EFO	0	EFO	Beemer-Ertbruggen syndrome	Beemer-Ertbruggen syndrome
Orphanet:330206	Orphanet:1237	\N	"" []	Orphanet:1237	"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." []	214643	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Beemer-Ertbruggen syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1237	"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." []	568668	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Beemer-Ertbruggen syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1237	"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." []	1150311	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Beemer-Ertbruggen syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1237	"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." []	2032554	\N	\N	EFO	4	EFO	genetic disorder	Beemer-Ertbruggen syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1237	"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." []	3183105	\N	\N	EFO	5	EFO	disease	Beemer-Ertbruggen syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1237	"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." []	4391063	\N	\N	EFO	6	EFO	disposition	Beemer-Ertbruggen syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1237	"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." []	5410282	\N	\N	EFO	7	EFO	material property	Beemer-Ertbruggen syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1237	"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." []	6148050	\N	\N	EFO	8	EFO	experimental factor	Beemer-Ertbruggen syndrome
Orphanet:1239	\N	\N	"" []	Orphanet:1239	"" []	73389	\N	\N	EFO	0	EFO	Behr syndrome	Behr syndrome
Orphanet:98677	Orphanet:1239	\N	"" []	Orphanet:1239	"" []	214644	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	Behr syndrome
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:1239	"" []	568669	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	Behr syndrome
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:1239	"" []	1150312	\N	\N	EFO	3	EFO	Genetic optic atrophy	Behr syndrome
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:1239	"" []	2032555	\N	\N	EFO	4	EFO	Optic neuropathy	Behr syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:1239	"" []	3183106	\N	\N	EFO	5	EFO	Rare genetic eye disease	Behr syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1239	"" []	4391064	\N	\N	EFO	6	EFO	genetic disorder	Behr syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1239	"" []	4391065	\N	\N	EFO	6	EFO	eye disease	Behr syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1239	"" []	5410283	\N	\N	EFO	7	EFO	disease	Behr syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1239	"" []	5410284	\N	\N	EFO	7	EFO	disease	Behr syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1239	"" []	6148051	\N	\N	EFO	8	EFO	disposition	Behr syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1239	"" []	6632064	\N	\N	EFO	9	EFO	material property	Behr syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1239	"" []	6925393	\N	\N	EFO	10	EFO	experimental factor	Behr syndrome
Orphanet:124	\N	\N	"" []	Orphanet:124	"" []	73390	\N	\N	EFO	0	EFO	Blackfan-Diamond anemia	Blackfan-Diamond anemia
Orphanet:139039	Orphanet:124	\N	"" []	Orphanet:124	"" []	214645	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Blackfan-Diamond anemia
Orphanet:183422	Orphanet:124	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:124	"" []	214646	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Blackfan-Diamond anemia
Orphanet:68383	Orphanet:124	\N	"" []	Orphanet:124	"" []	214647	\N	\N	EFO	1	EFO	Rare constitutional medullar aplasia	Blackfan-Diamond anemia
Orphanet:79191	Orphanet:124	\N	"" []	Orphanet:124	"" []	214648	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Blackfan-Diamond anemia
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:124	"" []	568670	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Blackfan-Diamond anemia
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:124	"" []	568671	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Blackfan-Diamond anemia
Orphanet:182040	Orphanet:68383	\N	"" []	Orphanet:124	"" []	568672	\N	\N	EFO	2	EFO	Medullar aplasia	Blackfan-Diamond anemia
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:124	"" []	568673	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Blackfan-Diamond anemia
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:124	"" []	1150313	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Blackfan-Diamond anemia
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:124	"" []	1150314	\N	\N	EFO	3	EFO	genetic disorder	Blackfan-Diamond anemia
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:124	"" []	1150315	\N	\N	EFO	3	EFO	Rare constitutional anemia	Blackfan-Diamond anemia
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:124	"" []	1150316	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Blackfan-Diamond anemia
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:124	"" []	2032556	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Blackfan-Diamond anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:124	"" []	5410285	\N	\N	EFO	7	EFO	disease	Blackfan-Diamond anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:124	"" []	2032558	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Blackfan-Diamond anemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:124	"" []	2032559	\N	\N	EFO	4	EFO	genetic disorder	Blackfan-Diamond anemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:124	"" []	2032560	\N	\N	EFO	4	EFO	metabolic disease	Blackfan-Diamond anemia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:124	"" []	3183107	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Blackfan-Diamond anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:124	"" []	5817456	\N	\N	EFO	8	EFO	disposition	Blackfan-Diamond anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:124	"" []	3183109	\N	\N	EFO	5	EFO	genetic disorder	Blackfan-Diamond anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:124	"" []	3183110	\N	\N	EFO	5	EFO	hematological system disease	Blackfan-Diamond anemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:124	"" []	3183112	\N	\N	EFO	5	EFO	disease	Blackfan-Diamond anemia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:124	"" []	4391066	\N	\N	EFO	6	EFO	genetic disorder	Blackfan-Diamond anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:124	"" []	6409815	\N	\N	EFO	9	EFO	material property	Blackfan-Diamond anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:124	"" []	4391069	\N	\N	EFO	6	EFO	disease	Blackfan-Diamond anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:124	"" []	6807672	\N	\N	EFO	10	EFO	experimental factor	Blackfan-Diamond anemia
Orphanet:1240	\N	\N	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	73391	\N	\N	EFO	0	EFO	Metaphyseal acroscyphodysplasia	Metaphyseal acroscyphodysplasia
Orphanet:93430	Orphanet:1240	\N	"" []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	214649	\N	\N	EFO	1	EFO	Multiple metaphyseal dysplasia	Metaphyseal acroscyphodysplasia
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	568674	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metaphyseal acroscyphodysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	1150317	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metaphyseal acroscyphodysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	1150318	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metaphyseal acroscyphodysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	2032561	\N	\N	EFO	4	EFO	genetic disorder	Metaphyseal acroscyphodysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	2032562	\N	\N	EFO	4	EFO	bone disease	Metaphyseal acroscyphodysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	2032563	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metaphyseal acroscyphodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	4391072	\N	\N	EFO	6	EFO	disease	Metaphyseal acroscyphodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	3183114	\N	\N	EFO	5	EFO	skeletal system disease	Metaphyseal acroscyphodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	3183115	\N	\N	EFO	5	EFO	genetic disorder	Metaphyseal acroscyphodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	5181521	\N	\N	EFO	7	EFO	disposition	Metaphyseal acroscyphodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	4391071	\N	\N	EFO	6	EFO	disease	Metaphyseal acroscyphodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	5996902	\N	\N	EFO	8	EFO	material property	Metaphyseal acroscyphodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1240	"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embeeded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." []	6550495	\N	\N	EFO	9	EFO	experimental factor	Metaphyseal acroscyphodysplasia
Orphanet:1241	\N	\N	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	73392	\N	\N	EFO	0	EFO	Bencze syndrome	Bencze syndrome
Orphanet:139039	Orphanet:1241	\N	"" []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	214650	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Bencze syndrome
Orphanet:330206	Orphanet:1241	\N	"" []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	214651	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Bencze syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	568675	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Bencze syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	568676	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Bencze syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	1150319	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Bencze syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	1150320	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bencze syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	2032564	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Bencze syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	4391073	\N	\N	EFO	6	EFO	genetic disorder	Bencze syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	3183116	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Bencze syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	5059568	\N	\N	EFO	7	EFO	disease	Bencze syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	5876732	\N	\N	EFO	8	EFO	disposition	Bencze syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	6469944	\N	\N	EFO	9	EFO	material property	Bencze syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1241	"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." []	6848264	\N	\N	EFO	10	EFO	experimental factor	Bencze syndrome
Orphanet:1243	\N	\N	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	Orphanet:1243	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	73393	\N	\N	EFO	0	EFO	Best vitelliform macular dystrophy	Best vitelliform macular dystrophy
Orphanet:98664	Orphanet:1243	\N	"" []	Orphanet:1243	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	214652	\N	\N	EFO	1	EFO	Genetic macular dystrophy	Best vitelliform macular dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:1243	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	568677	\N	\N	EFO	2	EFO	Retinal dystrophy	Best vitelliform macular dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1243	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	1150321	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Best vitelliform macular dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1243	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	2032566	\N	\N	EFO	4	EFO	Rare genetic eye disease	Best vitelliform macular dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1243	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	3183118	\N	\N	EFO	5	EFO	genetic disorder	Best vitelliform macular dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1243	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	3183119	\N	\N	EFO	5	EFO	eye disease	Best vitelliform macular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1243	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	4391075	\N	\N	EFO	6	EFO	disease	Best vitelliform macular dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1243	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	4391076	\N	\N	EFO	6	EFO	disease	Best vitelliform macular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1243	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	5410289	\N	\N	EFO	7	EFO	disposition	Best vitelliform macular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1243	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	6148054	\N	\N	EFO	8	EFO	material property	Best vitelliform macular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1243	"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." []	6632065	\N	\N	EFO	9	EFO	experimental factor	Best vitelliform macular dystrophy
Orphanet:1246	\N	\N	"" []	Orphanet:1246	"" []	73394	\N	\N	EFO	0	EFO	Brachydactyly - nystagmus - cerebellar ataxia	Brachydactyly - nystagmus - cerebellar ataxia
Orphanet:102283	Orphanet:1246	\N	"" []	Orphanet:1246	"" []	214653	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Brachydactyly - nystagmus - cerebellar ataxia
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1246	"" []	568678	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Brachydactyly - nystagmus - cerebellar ataxia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1246	"" []	1150322	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly - nystagmus - cerebellar ataxia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1246	"" []	2032567	\N	\N	EFO	4	EFO	genetic disorder	Brachydactyly - nystagmus - cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1246	"" []	3183120	\N	\N	EFO	5	EFO	disease	Brachydactyly - nystagmus - cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1246	"" []	4391077	\N	\N	EFO	6	EFO	disposition	Brachydactyly - nystagmus - cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1246	"" []	5410290	\N	\N	EFO	7	EFO	material property	Brachydactyly - nystagmus - cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1246	"" []	6148055	\N	\N	EFO	8	EFO	experimental factor	Brachydactyly - nystagmus - cerebellar ataxia
Orphanet:1248	\N	\N	"" []	Orphanet:1248	"" []	73395	\N	\N	EFO	0	EFO	Maxillonasal dysplasia	Maxillonasal dysplasia
Orphanet:156237	Orphanet:1248	\N	"" []	Orphanet:1248	"" []	214654	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Maxillonasal dysplasia
Orphanet:330206	Orphanet:1248	\N	"" []	Orphanet:1248	"" []	214655	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Maxillonasal dysplasia
Orphanet:90642	Orphanet:1248	\N	"" []	Orphanet:1248	"" []	214656	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Maxillonasal dysplasia
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1248	"" []	568679	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Maxillonasal dysplasia
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1248	"" []	568680	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Maxillonasal dysplasia
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1248	"" []	568681	\N	\N	EFO	2	EFO	Rare genetic deafness	Maxillonasal dysplasia
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1248	"" []	1150323	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Maxillonasal dysplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1248	"" []	1150324	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Maxillonasal dysplasia
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1248	"" []	1150325	\N	\N	EFO	3	EFO	genetic disorder	Maxillonasal dysplasia
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1248	"" []	1150326	\N	\N	EFO	3	EFO	auditory system disease	Maxillonasal dysplasia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1248	"" []	2032568	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Maxillonasal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1248	"" []	3183121	\N	\N	EFO	5	EFO	genetic disorder	Maxillonasal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1248	"" []	4133237	\N	\N	EFO	6	EFO	disease	Maxillonasal dysplasia
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1248	"" []	2032571	\N	\N	EFO	4	EFO	sensory system disease	Maxillonasal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1248	"" []	5059569	\N	\N	EFO	7	EFO	disposition	Maxillonasal dysplasia
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1248	"" []	3183124	\N	\N	EFO	5	EFO	nervous system disease	Maxillonasal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1248	"" []	5876733	\N	\N	EFO	8	EFO	material property	Maxillonasal dysplasia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1248	"" []	4391079	\N	\N	EFO	6	EFO	disease	Maxillonasal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1248	"" []	6469945	\N	\N	EFO	9	EFO	experimental factor	Maxillonasal dysplasia
Orphanet:125	\N	\N	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	73396	\N	\N	EFO	0	EFO	Bloom syndrome	Bloom syndrome
Orphanet:169346	Orphanet:125	\N	"" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	214657	\N	\N	EFO	1	EFO	DNA repair defect other than combined T-cell and B-cell immunodeficiencies	Bloom syndrome
Orphanet:183422	Orphanet:125	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	214658	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Bloom syndrome
Orphanet:183490	Orphanet:125	\N	"" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	214659	\N	\N	EFO	1	EFO	Genetic photodermatosis	Bloom syndrome
Orphanet:183570	Orphanet:125	\N	"" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	214660	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Bloom syndrome
Orphanet:98709	Orphanet:125	\N	"" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	214661	\N	\N	EFO	1	EFO	Ectodermal malformation syndrome associated with ocular features	Bloom syndrome
Orphanet:331217	Orphanet:169346	\N	"" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	568682	\N	\N	EFO	2	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Bloom syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	568683	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Bloom syndrome
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	568684	\N	\N	EFO	2	EFO	Rare genetic skin disease	Bloom syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	568685	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Bloom syndrome
Orphanet:101435	Orphanet:98709	\N	"" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	568686	\N	\N	EFO	2	EFO	Rare genetic eye disease	Bloom syndrome
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	1150327	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Bloom syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	1150328	\N	\N	EFO	3	EFO	genetic disorder	Bloom syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	1150329	\N	\N	EFO	3	EFO	genetic disorder	Bloom syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	1150330	\N	\N	EFO	3	EFO	skin disease	Bloom syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	1150331	\N	\N	EFO	3	EFO	genetic disorder	Bloom syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	1150332	\N	\N	EFO	3	EFO	genetic disorder	Bloom syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	1150333	\N	\N	EFO	3	EFO	eye disease	Bloom syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	2032572	\N	\N	EFO	4	EFO	Primary immunodeficiency	Bloom syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	5410292	\N	\N	EFO	7	EFO	disease	Bloom syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	2032574	\N	\N	EFO	4	EFO	disease	Bloom syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	2032575	\N	\N	EFO	4	EFO	disease	Bloom syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	3183125	\N	\N	EFO	5	EFO	Rare genetic immune disease	Bloom syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	5817457	\N	\N	EFO	8	EFO	disposition	Bloom syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	4391080	\N	\N	EFO	6	EFO	genetic disorder	Bloom syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	4391081	\N	\N	EFO	6	EFO	immune system disease	Bloom syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	6409816	\N	\N	EFO	9	EFO	material property	Bloom syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	5410293	\N	\N	EFO	7	EFO	disease	Bloom syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:125	"Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." []	6807673	\N	\N	EFO	10	EFO	experimental factor	Bloom syndrome
Orphanet:1252	\N	\N	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	73397	\N	\N	EFO	0	EFO	Blepharonasofacial malformation syndrome	Blepharonasofacial malformation syndrome
Orphanet:102283	Orphanet:1252	\N	"" []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	214662	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Blepharonasofacial malformation syndrome
Orphanet:183763	Orphanet:1252	\N	"" []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	214663	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Blepharonasofacial malformation syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	568687	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Blepharonasofacial malformation syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	568688	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Blepharonasofacial malformation syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	1150334	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Blepharonasofacial malformation syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	1150335	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Blepharonasofacial malformation syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	2032576	\N	\N	EFO	4	EFO	genetic disorder	Blepharonasofacial malformation syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	2032577	\N	\N	EFO	4	EFO	genetic disorder	Blepharonasofacial malformation syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	3183127	\N	\N	EFO	5	EFO	disease	Blepharonasofacial malformation syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	4391083	\N	\N	EFO	6	EFO	disposition	Blepharonasofacial malformation syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	5410295	\N	\N	EFO	7	EFO	material property	Blepharonasofacial malformation syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1252	"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." []	6148056	\N	\N	EFO	8	EFO	experimental factor	Blepharonasofacial malformation syndrome
Orphanet:1253	\N	\N	"" []	Orphanet:1253	"" []	73398	\N	\N	EFO	0	EFO	Ascher syndrome	Ascher syndrome
Orphanet:139027	Orphanet:1253	\N	"" []	Orphanet:1253	"" []	214664	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Ascher syndrome
Orphanet:330206	Orphanet:1253	\N	"" []	Orphanet:1253	"" []	214665	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Ascher syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1253	"" []	568689	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ascher syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1253	"" []	568690	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ascher syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1253	"" []	2032579	\N	\N	EFO	4	EFO	genetic disorder	Ascher syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1253	"" []	1150337	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ascher syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1253	"" []	3000117	\N	\N	EFO	5	EFO	disease	Ascher syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1253	"" []	4133239	\N	\N	EFO	6	EFO	disposition	Ascher syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1253	"" []	5181523	\N	\N	EFO	7	EFO	material property	Ascher syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1253	"" []	5996904	\N	\N	EFO	8	EFO	experimental factor	Ascher syndrome
Orphanet:1256	\N	\N	"" []	Orphanet:1256	"" []	73399	\N	\N	EFO	0	EFO	Blepharophimosis - radioulnar synostosis	Blepharophimosis - radioulnar synostosis
Orphanet:108987	Orphanet:1256	\N	"" []	Orphanet:1256	"" []	214666	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Blepharophimosis - radioulnar synostosis
Orphanet:93459	Orphanet:1256	\N	"" []	Orphanet:1256	"" []	214667	\N	\N	EFO	1	EFO	Syndrome with synostosis or other joint formation defect	Blepharophimosis - radioulnar synostosis
Orphanet:98578	Orphanet:1256	\N	"" []	Orphanet:1256	"" []	214668	\N	\N	EFO	1	EFO	Ptosis	Blepharophimosis - radioulnar synostosis
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1256	"" []	568691	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Blepharophimosis - radioulnar synostosis
Orphanet:404571	Orphanet:93459	\N	"" []	Orphanet:1256	"" []	568692	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Blepharophimosis - radioulnar synostosis
Orphanet:404577	Orphanet:93459	\N	"" []	Orphanet:1256	"" []	568693	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Blepharophimosis - radioulnar synostosis
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:1256	"" []	568694	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Blepharophimosis - radioulnar synostosis
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1256	"" []	1150338	\N	\N	EFO	3	EFO	Rare genetic eye disease	Blepharophimosis - radioulnar synostosis
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1256	"" []	1150339	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis - radioulnar synostosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1256	"" []	1150340	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Blepharophimosis - radioulnar synostosis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1256	"" []	1150341	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Blepharophimosis - radioulnar synostosis
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:1256	"" []	1150342	\N	\N	EFO	3	EFO	Rare palpebral disease	Blepharophimosis - radioulnar synostosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1256	"" []	4391088	\N	\N	EFO	6	EFO	genetic disorder	Blepharophimosis - radioulnar synostosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1256	"" []	4391089	\N	\N	EFO	6	EFO	eye disease	Blepharophimosis - radioulnar synostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1256	"" []	4391087	\N	\N	EFO	6	EFO	genetic disorder	Blepharophimosis - radioulnar synostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1256	"" []	2032583	\N	\N	EFO	4	EFO	Rare genetic bone disease	Blepharophimosis - radioulnar synostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1256	"" []	2032584	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Blepharophimosis - radioulnar synostosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1256	"" []	2032585	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis - radioulnar synostosis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1256	"" []	2032586	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Blepharophimosis - radioulnar synostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1256	"" []	5059570	\N	\N	EFO	7	EFO	disease	Blepharophimosis - radioulnar synostosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1256	"" []	5059571	\N	\N	EFO	7	EFO	disease	Blepharophimosis - radioulnar synostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1256	"" []	3183131	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis - radioulnar synostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1256	"" []	3183132	\N	\N	EFO	5	EFO	bone disease	Blepharophimosis - radioulnar synostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1256	"" []	3183133	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis - radioulnar synostosis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1256	"" []	3183135	\N	\N	EFO	5	EFO	Rare genetic eye disease	Blepharophimosis - radioulnar synostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1256	"" []	5876734	\N	\N	EFO	8	EFO	disposition	Blepharophimosis - radioulnar synostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1256	"" []	4391086	\N	\N	EFO	6	EFO	skeletal system disease	Blepharophimosis - radioulnar synostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1256	"" []	6469946	\N	\N	EFO	9	EFO	material property	Blepharophimosis - radioulnar synostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1256	"" []	5410298	\N	\N	EFO	7	EFO	disease	Blepharophimosis - radioulnar synostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1256	"" []	6848265	\N	\N	EFO	10	EFO	experimental factor	Blepharophimosis - radioulnar synostosis
Orphanet:1258	\N	\N	"" []	Orphanet:1258	"" []	73400	\N	\N	EFO	0	EFO	Blepharoptosis - cleft palate - ectrodactyly - dental anomalies	Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
Orphanet:183580	Orphanet:1258	\N	"" []	Orphanet:1258	"" []	214669	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:1258	"" []	568695	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1258	"" []	1150343	\N	\N	EFO	3	EFO	genetic disorder	Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1258	"" []	2032587	\N	\N	EFO	4	EFO	disease	Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1258	"" []	3183136	\N	\N	EFO	5	EFO	disposition	Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1258	"" []	4391090	\N	\N	EFO	6	EFO	material property	Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1258	"" []	5410299	\N	\N	EFO	7	EFO	experimental factor	Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
Orphanet:1259	\N	\N	"" []	Orphanet:1259	"" []	73401	\N	\N	EFO	0	EFO	Blepharoptosis - myopia - ectopia lentis	Blepharoptosis - myopia - ectopia lentis
Orphanet:108985	Orphanet:1259	\N	"" []	Orphanet:1259	"" []	214670	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Blepharoptosis - myopia - ectopia lentis
Orphanet:98653	Orphanet:1259	\N	"" []	Orphanet:1259	"" []	214671	\N	\N	EFO	1	EFO	Lens position anomaly	Blepharoptosis - myopia - ectopia lentis
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:1259	"" []	568696	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Blepharoptosis - myopia - ectopia lentis
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:1259	"" []	568697	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Blepharoptosis - myopia - ectopia lentis
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1259	"" []	1150344	\N	\N	EFO	3	EFO	Rare genetic eye disease	Blepharoptosis - myopia - ectopia lentis
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1259	"" []	1150345	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Blepharoptosis - myopia - ectopia lentis
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1259	"" []	1150346	\N	\N	EFO	3	EFO	Rare genetic eye disease	Blepharoptosis - myopia - ectopia lentis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1259	"" []	2032588	\N	\N	EFO	4	EFO	genetic disorder	Blepharoptosis - myopia - ectopia lentis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1259	"" []	2032589	\N	\N	EFO	4	EFO	eye disease	Blepharoptosis - myopia - ectopia lentis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1259	"" []	2032590	\N	\N	EFO	4	EFO	genetic disorder	Blepharoptosis - myopia - ectopia lentis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1259	"" []	3183137	\N	\N	EFO	5	EFO	disease	Blepharoptosis - myopia - ectopia lentis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1259	"" []	3183138	\N	\N	EFO	5	EFO	disease	Blepharoptosis - myopia - ectopia lentis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1259	"" []	4391091	\N	\N	EFO	6	EFO	disposition	Blepharoptosis - myopia - ectopia lentis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1259	"" []	5410300	\N	\N	EFO	7	EFO	material property	Blepharoptosis - myopia - ectopia lentis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1259	"" []	6148058	\N	\N	EFO	8	EFO	experimental factor	Blepharoptosis - myopia - ectopia lentis
Orphanet:126	\N	\N	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	73402	\N	\N	EFO	0	EFO	Blepharophimosis - epicanthus inversus - ptosis	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:108985	Orphanet:126	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	214672	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:400022	Orphanet:126	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	214673	\N	\N	EFO	1	EFO	Rare female infertility due to an anomaly of ovarian function of genetic origin	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:95710	Orphanet:126	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	214674	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:98571	Orphanet:126	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	214675	\N	\N	EFO	1	EFO	Secondary ectropion	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:98575	Orphanet:126	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	214676	\N	\N	EFO	1	EFO	Telecanthus	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:98578	Orphanet:126	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	214677	\N	\N	EFO	1	EFO	Ptosis	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	568698	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Blepharophimosis - epicanthus inversus - ptosis
EFO:0005771	Orphanet:400022	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	568699	\N	\N	EFO	2	EFO	ovarian disease	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:400011	Orphanet:400022	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	568700	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Blepharophimosis - epicanthus inversus - ptosis
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	568701	\N	\N	EFO	2	EFO	ovarian disease	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	568702	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	568703	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:98567	Orphanet:98571	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	568704	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:98572	Orphanet:98575	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	568705	\N	\N	EFO	2	EFO	Canthal anomaly	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	568706	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	1150347	\N	\N	EFO	3	EFO	Rare genetic eye disease	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	1150348	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	1150349	\N	\N	EFO	3	EFO	reproductive system disease	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	1150350	\N	\N	EFO	3	EFO	Rare genetic female infertility	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	1150351	\N	\N	EFO	3	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	1150352	\N	\N	EFO	3	EFO	endocrine system disease	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	1150353	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	1150354	\N	\N	EFO	3	EFO	Rare palpebral disease	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	1150355	\N	\N	EFO	3	EFO	Rare palpebral disease	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	1150356	\N	\N	EFO	3	EFO	Rare palpebral disease	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	4391095	\N	\N	EFO	6	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	4391096	\N	\N	EFO	6	EFO	eye disease	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	2032593	\N	\N	EFO	4	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	4391094	\N	\N	EFO	6	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	2032595	\N	\N	EFO	4	EFO	Genetic infertility	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	5059572	\N	\N	EFO	7	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	2032597	\N	\N	EFO	4	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	2032598	\N	\N	EFO	4	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	2032599	\N	\N	EFO	4	EFO	reproductive system disease	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	2032600	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	5059573	\N	\N	EFO	7	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	5817458	\N	\N	EFO	8	EFO	disposition	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	3183142	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	3183143	\N	\N	EFO	5	EFO	reproductive system disease	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	3183145	\N	\N	EFO	5	EFO	Rare genetic eye disease	Blepharophimosis - epicanthus inversus - ptosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	6409817	\N	\N	EFO	9	EFO	material property	Blepharophimosis - epicanthus inversus - ptosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:126	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	6807674	\N	\N	EFO	10	EFO	experimental factor	Blepharophimosis - epicanthus inversus - ptosis
Orphanet:1260	\N	\N	"" []	Orphanet:1260	"" []	73403	\N	\N	EFO	0	EFO	Sino-auricular heart block	Sino-auricular heart block
Orphanet:101934	Orphanet:1260	\N	"" []	Orphanet:1260	"" []	214678	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Sino-auricular heart block
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:1260	"" []	568707	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Sino-auricular heart block
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1260	"" []	1150357	\N	\N	EFO	3	EFO	genetic disorder	Sino-auricular heart block
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1260	"" []	1150358	\N	\N	EFO	3	EFO	heart disease	Sino-auricular heart block
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1260	"" []	2032601	\N	\N	EFO	4	EFO	disease	Sino-auricular heart block
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1260	"" []	2032602	\N	\N	EFO	4	EFO	cardiovascular disease	Sino-auricular heart block
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1260	"" []	4391098	\N	\N	EFO	6	EFO	disposition	Sino-auricular heart block
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1260	"" []	3183147	\N	\N	EFO	5	EFO	disease	Sino-auricular heart block
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1260	"" []	5181526	\N	\N	EFO	7	EFO	material property	Sino-auricular heart block
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1260	"" []	5996907	\N	\N	EFO	8	EFO	experimental factor	Sino-auricular heart block
Orphanet:1261	\N	\N	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	73404	\N	\N	EFO	0	EFO	Bonnemann-Meinecke-Reich syndrome	Bonnemann-Meinecke-Reich syndrome
Orphanet:102283	Orphanet:1261	\N	"" []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	214679	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Bonnemann-Meinecke-Reich syndrome
Orphanet:183763	Orphanet:1261	\N	"" []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	214680	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Bonnemann-Meinecke-Reich syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	568708	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Bonnemann-Meinecke-Reich syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	568709	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Bonnemann-Meinecke-Reich syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	1150359	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bonnemann-Meinecke-Reich syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	1150360	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Bonnemann-Meinecke-Reich syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	2032603	\N	\N	EFO	4	EFO	genetic disorder	Bonnemann-Meinecke-Reich syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	2032604	\N	\N	EFO	4	EFO	genetic disorder	Bonnemann-Meinecke-Reich syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	3183148	\N	\N	EFO	5	EFO	disease	Bonnemann-Meinecke-Reich syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	4391099	\N	\N	EFO	6	EFO	disposition	Bonnemann-Meinecke-Reich syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	5410303	\N	\N	EFO	7	EFO	material property	Bonnemann-Meinecke-Reich syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1261	"Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." []	6148059	\N	\N	EFO	8	EFO	experimental factor	Bonnemann-Meinecke-Reich syndrome
Orphanet:1262	\N	\N	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	73405	\N	\N	EFO	0	EFO	Bk syndrome	Bk syndrome
Orphanet:79373	Orphanet:1262	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	214681	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Bk syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	568710	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Bk syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	568711	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Bk syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	1150361	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bk syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	1150362	\N	\N	EFO	3	EFO	Rare genetic skin disease	Bk syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	2032605	\N	\N	EFO	4	EFO	genetic disorder	Bk syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	2032606	\N	\N	EFO	4	EFO	genetic disorder	Bk syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	2032607	\N	\N	EFO	4	EFO	skin disease	Bk syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	3183149	\N	\N	EFO	5	EFO	disease	Bk syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	3183150	\N	\N	EFO	5	EFO	disease	Bk syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	4391100	\N	\N	EFO	6	EFO	disposition	Bk syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	5410304	\N	\N	EFO	7	EFO	material property	Bk syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1262	"Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." []	6148060	\N	\N	EFO	8	EFO	experimental factor	Bk syndrome
Orphanet:1263	\N	\N	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	73406	\N	\N	EFO	0	EFO	Boomerang dysplasia	Boomerang dysplasia
Orphanet:93425	Orphanet:1263	\N	"" []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	214682	\N	\N	EFO	1	EFO	Filamin-related bone disorder	Boomerang dysplasia
Orphanet:93441	Orphanet:1263	\N	"" []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	214683	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Boomerang dysplasia
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	568712	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Boomerang dysplasia
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	568713	\N	\N	EFO	2	EFO	Primary bone dysplasia	Boomerang dysplasia
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	1150363	\N	\N	EFO	3	EFO	Rare genetic bone disease	Boomerang dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	1150364	\N	\N	EFO	3	EFO	Rare genetic bone disease	Boomerang dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	1150365	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Boomerang dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	2032608	\N	\N	EFO	4	EFO	genetic disorder	Boomerang dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	2032609	\N	\N	EFO	4	EFO	bone disease	Boomerang dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	2032610	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Boomerang dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	4391103	\N	\N	EFO	6	EFO	disease	Boomerang dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	3183152	\N	\N	EFO	5	EFO	skeletal system disease	Boomerang dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	3183153	\N	\N	EFO	5	EFO	genetic disorder	Boomerang dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	5181527	\N	\N	EFO	7	EFO	disposition	Boomerang dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	4391102	\N	\N	EFO	6	EFO	disease	Boomerang dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	5996908	\N	\N	EFO	8	EFO	material property	Boomerang dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1263	"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." []	6550497	\N	\N	EFO	9	EFO	experimental factor	Boomerang dysplasia
Orphanet:1264	\N	\N	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	73407	\N	\N	EFO	0	EFO	Tricho-retino-dento-digital syndrome	Tricho-retino-dento-digital syndrome
Orphanet:79373	Orphanet:1264	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	214684	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Tricho-retino-dento-digital syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	568714	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Tricho-retino-dento-digital syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	568715	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Tricho-retino-dento-digital syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	1150366	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Tricho-retino-dento-digital syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	1150367	\N	\N	EFO	3	EFO	Rare genetic skin disease	Tricho-retino-dento-digital syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	2032611	\N	\N	EFO	4	EFO	genetic disorder	Tricho-retino-dento-digital syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	2032612	\N	\N	EFO	4	EFO	genetic disorder	Tricho-retino-dento-digital syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	2032613	\N	\N	EFO	4	EFO	skin disease	Tricho-retino-dento-digital syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	3183154	\N	\N	EFO	5	EFO	disease	Tricho-retino-dento-digital syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	3183155	\N	\N	EFO	5	EFO	disease	Tricho-retino-dento-digital syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	4391104	\N	\N	EFO	6	EFO	disposition	Tricho-retino-dento-digital syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	5410306	\N	\N	EFO	7	EFO	material property	Tricho-retino-dento-digital syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1264	"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." []	6148062	\N	\N	EFO	8	EFO	experimental factor	Tricho-retino-dento-digital syndrome
Orphanet:1266	\N	\N	"Dermatocardioskeletal syndrome, Borrone type, is a malformation syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported at around puberty. With age and the progression of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported." []	Orphanet:1266	"Dermatocardioskeletal syndrome, Borrone type, is a malformation syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported at around puberty. With age and the progression of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported." []	73408	\N	\N	EFO	0	EFO	Dermato-cardio-skeletal syndrome, Borrone type	Dermato-cardio-skeletal syndrome, Borrone type
Orphanet:330206	Orphanet:1266	\N	"" []	Orphanet:1266	"Dermatocardioskeletal syndrome, Borrone type, is a malformation syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported at around puberty. With age and the progression of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported." []	214685	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Dermato-cardio-skeletal syndrome, Borrone type
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1266	"Dermatocardioskeletal syndrome, Borrone type, is a malformation syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported at around puberty. With age and the progression of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported." []	568716	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Dermato-cardio-skeletal syndrome, Borrone type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1266	"Dermatocardioskeletal syndrome, Borrone type, is a malformation syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported at around puberty. With age and the progression of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported." []	1150368	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dermato-cardio-skeletal syndrome, Borrone type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1266	"Dermatocardioskeletal syndrome, Borrone type, is a malformation syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported at around puberty. With age and the progression of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported." []	2032614	\N	\N	EFO	4	EFO	genetic disorder	Dermato-cardio-skeletal syndrome, Borrone type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1266	"Dermatocardioskeletal syndrome, Borrone type, is a malformation syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported at around puberty. With age and the progression of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported." []	3183156	\N	\N	EFO	5	EFO	disease	Dermato-cardio-skeletal syndrome, Borrone type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1266	"Dermatocardioskeletal syndrome, Borrone type, is a malformation syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported at around puberty. With age and the progression of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported." []	4391105	\N	\N	EFO	6	EFO	disposition	Dermato-cardio-skeletal syndrome, Borrone type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1266	"Dermatocardioskeletal syndrome, Borrone type, is a malformation syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported at around puberty. With age and the progression of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported." []	5410307	\N	\N	EFO	7	EFO	material property	Dermato-cardio-skeletal syndrome, Borrone type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1266	"Dermatocardioskeletal syndrome, Borrone type, is a malformation syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported at around puberty. With age and the progression of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported." []	6148063	\N	\N	EFO	8	EFO	experimental factor	Dermato-cardio-skeletal syndrome, Borrone type
Orphanet:127	\N	\N	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	73409	\N	\N	EFO	0	EFO	Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann syndrome
Orphanet:102283	Orphanet:127	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	214686	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Borjeson-Forssman-Lehmann syndrome
Orphanet:240371	Orphanet:127	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	214687	\N	\N	EFO	1	EFO	Syndromic obesity	Borjeson-Forssman-Lehmann syndrome
Orphanet:98464	Orphanet:127	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	214688	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Borjeson-Forssman-Lehmann syndrome
Orphanet:98578	Orphanet:127	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	214689	\N	\N	EFO	1	EFO	Ptosis	Borjeson-Forssman-Lehmann syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	568717	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Borjeson-Forssman-Lehmann syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	568718	\N	\N	EFO	2	EFO	Genetic obesity	Borjeson-Forssman-Lehmann syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	568719	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Borjeson-Forssman-Lehmann syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	568720	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Borjeson-Forssman-Lehmann syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	1150369	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Borjeson-Forssman-Lehmann syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	1150370	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Borjeson-Forssman-Lehmann syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	1150371	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Borjeson-Forssman-Lehmann syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	1150372	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Borjeson-Forssman-Lehmann syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	1150373	\N	\N	EFO	3	EFO	Rare palpebral disease	Borjeson-Forssman-Lehmann syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	3183159	\N	\N	EFO	5	EFO	genetic disorder	Borjeson-Forssman-Lehmann syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	2032616	\N	\N	EFO	4	EFO	genetic disorder	Borjeson-Forssman-Lehmann syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	2032617	\N	\N	EFO	4	EFO	endocrine system disease	Borjeson-Forssman-Lehmann syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	2032618	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Borjeson-Forssman-Lehmann syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	2032619	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Borjeson-Forssman-Lehmann syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	2032620	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Borjeson-Forssman-Lehmann syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	5410309	\N	\N	EFO	7	EFO	disease	Borjeson-Forssman-Lehmann syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	3183158	\N	\N	EFO	5	EFO	disease	Borjeson-Forssman-Lehmann syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	3183160	\N	\N	EFO	5	EFO	genetic disorder	Borjeson-Forssman-Lehmann syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	3183161	\N	\N	EFO	5	EFO	Rare genetic eye disease	Borjeson-Forssman-Lehmann syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	5876736	\N	\N	EFO	8	EFO	disposition	Borjeson-Forssman-Lehmann syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	4391107	\N	\N	EFO	6	EFO	genetic disorder	Borjeson-Forssman-Lehmann syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	4391108	\N	\N	EFO	6	EFO	eye disease	Borjeson-Forssman-Lehmann syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	6469948	\N	\N	EFO	9	EFO	material property	Borjeson-Forssman-Lehmann syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	5410310	\N	\N	EFO	7	EFO	disease	Borjeson-Forssman-Lehmann syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:127	"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." []	6848266	\N	\N	EFO	10	EFO	experimental factor	Borjeson-Forssman-Lehmann syndrome
Orphanet:1270	\N	\N	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	73410	\N	\N	EFO	0	EFO	Bowen-Conradi syndrome	Bowen-Conradi syndrome
Orphanet:102283	Orphanet:1270	\N	"" []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	214690	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Bowen-Conradi syndrome
Orphanet:183763	Orphanet:1270	\N	"" []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	214691	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Bowen-Conradi syndrome
Orphanet:269528	Orphanet:1270	\N	"" []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	214692	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Bowen-Conradi syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	568721	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Bowen-Conradi syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	568722	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Bowen-Conradi syndrome
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	568723	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Bowen-Conradi syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	1150374	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bowen-Conradi syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	1150375	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Bowen-Conradi syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	1150376	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Bowen-Conradi syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	3183163	\N	\N	EFO	5	EFO	genetic disorder	Bowen-Conradi syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	3183164	\N	\N	EFO	5	EFO	genetic disorder	Bowen-Conradi syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	2032623	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Bowen-Conradi syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	2032624	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Bowen-Conradi syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	4133243	\N	\N	EFO	6	EFO	disease	Bowen-Conradi syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	5181529	\N	\N	EFO	7	EFO	disposition	Bowen-Conradi syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	5996910	\N	\N	EFO	8	EFO	material property	Bowen-Conradi syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1270	"Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." []	6550499	\N	\N	EFO	9	EFO	experimental factor	Bowen-Conradi syndrome
Orphanet:1272	\N	\N	"" []	Orphanet:1272	"" []	73411	\N	\N	EFO	0	EFO	Fine-Lubinsky syndrome	Fine-Lubinsky syndrome
Orphanet:102283	Orphanet:1272	\N	"" []	Orphanet:1272	"" []	214693	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Fine-Lubinsky syndrome
Orphanet:183763	Orphanet:1272	\N	"" []	Orphanet:1272	"" []	214694	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Fine-Lubinsky syndrome
Orphanet:98641	Orphanet:1272	\N	"" []	Orphanet:1272	"" []	214695	\N	\N	EFO	1	EFO	Syndromic cataract	Fine-Lubinsky syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1272	"" []	568724	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Fine-Lubinsky syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1272	"" []	568725	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Fine-Lubinsky syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1272	"" []	568726	\N	\N	EFO	2	EFO	Rare cataract	Fine-Lubinsky syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1272	"" []	1150377	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fine-Lubinsky syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1272	"" []	1150378	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Fine-Lubinsky syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1272	"" []	1150379	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Fine-Lubinsky syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1272	"" []	2032625	\N	\N	EFO	4	EFO	genetic disorder	Fine-Lubinsky syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1272	"" []	2032626	\N	\N	EFO	4	EFO	genetic disorder	Fine-Lubinsky syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1272	"" []	2032627	\N	\N	EFO	4	EFO	Rare genetic eye disease	Fine-Lubinsky syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1272	"" []	4391111	\N	\N	EFO	6	EFO	disease	Fine-Lubinsky syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1272	"" []	3183166	\N	\N	EFO	5	EFO	genetic disorder	Fine-Lubinsky syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1272	"" []	3183167	\N	\N	EFO	5	EFO	eye disease	Fine-Lubinsky syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1272	"" []	5181530	\N	\N	EFO	7	EFO	disposition	Fine-Lubinsky syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1272	"" []	4391112	\N	\N	EFO	6	EFO	disease	Fine-Lubinsky syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1272	"" []	5996911	\N	\N	EFO	8	EFO	material property	Fine-Lubinsky syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1272	"" []	6550500	\N	\N	EFO	9	EFO	experimental factor	Fine-Lubinsky syndrome
Orphanet:1275	\N	\N	"" []	Orphanet:1275	"" []	73412	\N	\N	EFO	0	EFO	Brachydactyly - elbow wrist dysplasia	Brachydactyly - elbow wrist dysplasia
Orphanet:69028	Orphanet:1275	\N	"" []	Orphanet:1275	"" []	214696	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly - elbow wrist dysplasia
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1275	"" []	568727	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly - elbow wrist dysplasia
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1275	"" []	568728	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly - elbow wrist dysplasia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1275	"" []	1150380	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly - elbow wrist dysplasia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1275	"" []	1150381	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly - elbow wrist dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1275	"" []	2032628	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly - elbow wrist dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1275	"" []	2032629	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly - elbow wrist dysplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1275	"" []	2032630	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly - elbow wrist dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1275	"" []	3183168	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly - elbow wrist dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1275	"" []	3183169	\N	\N	EFO	5	EFO	bone disease	Brachydactyly - elbow wrist dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1275	"" []	3183170	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly - elbow wrist dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1275	"" []	4391115	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly - elbow wrist dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1275	"" []	5181531	\N	\N	EFO	7	EFO	disease	Brachydactyly - elbow wrist dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1275	"" []	4391114	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly - elbow wrist dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1275	"" []	5996912	\N	\N	EFO	8	EFO	disposition	Brachydactyly - elbow wrist dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1275	"" []	5410314	\N	\N	EFO	7	EFO	disease	Brachydactyly - elbow wrist dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1275	"" []	6550501	\N	\N	EFO	9	EFO	material property	Brachydactyly - elbow wrist dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1275	"" []	6889021	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly - elbow wrist dysplasia
Orphanet:1276	\N	\N	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	73413	\N	\N	EFO	0	EFO	Brachydactyly - arterial hypertension	Brachydactyly - arterial hypertension
Orphanet:156629	Orphanet:1276	\N	"" []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	214697	\N	\N	EFO	1	EFO	Genetic hypertension	Brachydactyly - arterial hypertension
Orphanet:69028	Orphanet:1276	\N	"" []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	214698	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly - arterial hypertension
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	568729	\N	\N	EFO	2	EFO	Rare genetic renal disease	Brachydactyly - arterial hypertension
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	568730	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly - arterial hypertension
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	568731	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly - arterial hypertension
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	1150382	\N	\N	EFO	3	EFO	genetic disorder	Brachydactyly - arterial hypertension
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	1150383	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly - arterial hypertension
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	1150384	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly - arterial hypertension
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	5181532	\N	\N	EFO	7	EFO	disease	Brachydactyly - arterial hypertension
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	2032632	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly - arterial hypertension
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	2032633	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly - arterial hypertension
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	2032634	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly - arterial hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	5817459	\N	\N	EFO	8	EFO	disposition	Brachydactyly - arterial hypertension
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	3183173	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly - arterial hypertension
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	3183174	\N	\N	EFO	5	EFO	bone disease	Brachydactyly - arterial hypertension
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	3183175	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly - arterial hypertension
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	4391119	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly - arterial hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	6409818	\N	\N	EFO	9	EFO	material property	Brachydactyly - arterial hypertension
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	4391118	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly - arterial hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	6807675	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly - arterial hypertension
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1276	"Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." []	5410316	\N	\N	EFO	7	EFO	disease	Brachydactyly - arterial hypertension
Orphanet:1277	\N	\N	"" []	Orphanet:1277	"" []	73414	\N	\N	EFO	0	EFO	Brachydactyly - mesomelia - intellectual disability - heart defects	Brachydactyly - mesomelia - intellectual disability - heart defects
Orphanet:102283	Orphanet:1277	\N	"" []	Orphanet:1277	"" []	214699	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Brachydactyly - mesomelia - intellectual disability - heart defects
Orphanet:183763	Orphanet:1277	\N	"" []	Orphanet:1277	"" []	214700	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Brachydactyly - mesomelia - intellectual disability - heart defects
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1277	"" []	568732	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Brachydactyly - mesomelia - intellectual disability - heart defects
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1277	"" []	568733	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Brachydactyly - mesomelia - intellectual disability - heart defects
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1277	"" []	1150385	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly - mesomelia - intellectual disability - heart defects
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1277	"" []	1150386	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Brachydactyly - mesomelia - intellectual disability - heart defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1277	"" []	2032635	\N	\N	EFO	4	EFO	genetic disorder	Brachydactyly - mesomelia - intellectual disability - heart defects
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1277	"" []	2032636	\N	\N	EFO	4	EFO	genetic disorder	Brachydactyly - mesomelia - intellectual disability - heart defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1277	"" []	3183177	\N	\N	EFO	5	EFO	disease	Brachydactyly - mesomelia - intellectual disability - heart defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1277	"" []	4391120	\N	\N	EFO	6	EFO	disposition	Brachydactyly - mesomelia - intellectual disability - heart defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1277	"" []	5410317	\N	\N	EFO	7	EFO	material property	Brachydactyly - mesomelia - intellectual disability - heart defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1277	"" []	6148068	\N	\N	EFO	8	EFO	experimental factor	Brachydactyly - mesomelia - intellectual disability - heart defects
Orphanet:1278	\N	\N	"" []	Orphanet:1278	"" []	73415	\N	\N	EFO	0	EFO	Brachydactyly - preaxial hallux varus	Brachydactyly - preaxial hallux varus
Orphanet:69028	Orphanet:1278	\N	"" []	Orphanet:1278	"" []	214701	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly - preaxial hallux varus
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1278	"" []	568734	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly - preaxial hallux varus
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1278	"" []	568735	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly - preaxial hallux varus
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1278	"" []	1150387	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly - preaxial hallux varus
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1278	"" []	1150388	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly - preaxial hallux varus
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1278	"" []	2032637	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly - preaxial hallux varus
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1278	"" []	2032638	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly - preaxial hallux varus
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1278	"" []	2032639	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly - preaxial hallux varus
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1278	"" []	3183178	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly - preaxial hallux varus
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1278	"" []	3183179	\N	\N	EFO	5	EFO	bone disease	Brachydactyly - preaxial hallux varus
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1278	"" []	3183180	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly - preaxial hallux varus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1278	"" []	4391123	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly - preaxial hallux varus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1278	"" []	5181533	\N	\N	EFO	7	EFO	disease	Brachydactyly - preaxial hallux varus
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1278	"" []	4391122	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly - preaxial hallux varus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1278	"" []	5996913	\N	\N	EFO	8	EFO	disposition	Brachydactyly - preaxial hallux varus
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1278	"" []	5410319	\N	\N	EFO	7	EFO	disease	Brachydactyly - preaxial hallux varus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1278	"" []	6550502	\N	\N	EFO	9	EFO	material property	Brachydactyly - preaxial hallux varus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1278	"" []	6889022	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly - preaxial hallux varus
Orphanet:1292	\N	\N	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	73416	\N	\N	EFO	0	EFO	Brachymorphism - onychodysplasia - dysphalangism	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:330197	Orphanet:1292	\N	"" []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	214702	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:69028	Orphanet:1292	\N	"" []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	214703	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	568736	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	568737	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	568738	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	1150389	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	1150390	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	1150391	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachymorphism - onychodysplasia - dysphalangism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	4391126	\N	\N	EFO	6	EFO	genetic disorder	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	2032641	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	2032642	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	2032643	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachymorphism - onychodysplasia - dysphalangism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	5059576	\N	\N	EFO	7	EFO	disease	Brachymorphism - onychodysplasia - dysphalangism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	3183183	\N	\N	EFO	5	EFO	genetic disorder	Brachymorphism - onychodysplasia - dysphalangism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	3183184	\N	\N	EFO	5	EFO	bone disease	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	3183185	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachymorphism - onychodysplasia - dysphalangism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	5876738	\N	\N	EFO	8	EFO	disposition	Brachymorphism - onychodysplasia - dysphalangism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	4391125	\N	\N	EFO	6	EFO	skeletal system disease	Brachymorphism - onychodysplasia - dysphalangism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	6469950	\N	\N	EFO	9	EFO	material property	Brachymorphism - onychodysplasia - dysphalangism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	5410321	\N	\N	EFO	7	EFO	disease	Brachymorphism - onychodysplasia - dysphalangism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1292	"Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." []	6848267	\N	\N	EFO	10	EFO	experimental factor	Brachymorphism - onychodysplasia - dysphalangism
Orphanet:1293	\N	\N	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	73417	\N	\N	EFO	0	EFO	Brachyolmia	Brachyolmia
Orphanet:93434	Orphanet:1293	\N	"" []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	214704	\N	\N	EFO	1	EFO	Spondylodysplastic dysplasia	Brachyolmia
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	568739	\N	\N	EFO	2	EFO	Primary bone dysplasia	Brachyolmia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	1150392	\N	\N	EFO	3	EFO	Rare genetic bone disease	Brachyolmia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	1150393	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Brachyolmia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	2032644	\N	\N	EFO	4	EFO	genetic disorder	Brachyolmia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	2032645	\N	\N	EFO	4	EFO	bone disease	Brachyolmia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	2032646	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachyolmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	4391129	\N	\N	EFO	6	EFO	disease	Brachyolmia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	3183188	\N	\N	EFO	5	EFO	skeletal system disease	Brachyolmia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	3183189	\N	\N	EFO	5	EFO	genetic disorder	Brachyolmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	5181535	\N	\N	EFO	7	EFO	disposition	Brachyolmia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	4391128	\N	\N	EFO	6	EFO	disease	Brachyolmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	5996915	\N	\N	EFO	8	EFO	material property	Brachyolmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1293	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	6550504	\N	\N	EFO	9	EFO	experimental factor	Brachyolmia
Orphanet:1295	\N	\N	"" []	Orphanet:1295	"" []	73418	\N	\N	EFO	0	EFO	Brachytelephalangy - dysmorphism - Kallmann syndrome	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:330206	Orphanet:1295	\N	"" []	Orphanet:1295	"" []	214705	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:69028	Orphanet:1295	\N	"" []	Orphanet:1295	"" []	214706	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1295	"" []	568740	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1295	"" []	568741	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1295	"" []	568742	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1295	"" []	1150394	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1295	"" []	1150395	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1295	"" []	1150396	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachytelephalangy - dysmorphism - Kallmann syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1295	"" []	4391132	\N	\N	EFO	6	EFO	genetic disorder	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1295	"" []	2032648	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1295	"" []	2032649	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1295	"" []	2032650	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachytelephalangy - dysmorphism - Kallmann syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1295	"" []	5059577	\N	\N	EFO	7	EFO	disease	Brachytelephalangy - dysmorphism - Kallmann syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1295	"" []	3183191	\N	\N	EFO	5	EFO	genetic disorder	Brachytelephalangy - dysmorphism - Kallmann syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1295	"" []	3183192	\N	\N	EFO	5	EFO	bone disease	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1295	"" []	3183193	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachytelephalangy - dysmorphism - Kallmann syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1295	"" []	5876739	\N	\N	EFO	8	EFO	disposition	Brachytelephalangy - dysmorphism - Kallmann syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1295	"" []	4391131	\N	\N	EFO	6	EFO	skeletal system disease	Brachytelephalangy - dysmorphism - Kallmann syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1295	"" []	6469951	\N	\N	EFO	9	EFO	material property	Brachytelephalangy - dysmorphism - Kallmann syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1295	"" []	5410324	\N	\N	EFO	7	EFO	disease	Brachytelephalangy - dysmorphism - Kallmann syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1295	"" []	6848268	\N	\N	EFO	10	EFO	experimental factor	Brachytelephalangy - dysmorphism - Kallmann syndrome
Orphanet:1296	\N	\N	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	73419	\N	\N	EFO	0	EFO	Lambert syndrome	Lambert syndrome
Orphanet:102283	Orphanet:1296	\N	"" []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	214707	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Lambert syndrome
Orphanet:156202	Orphanet:1296	\N	"" []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	214708	\N	\N	EFO	1	EFO	Otomandibular dysplasia associated with monogenic syndromes	Lambert syndrome
Orphanet:183576	Orphanet:1296	\N	"" []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	214709	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Lambert syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	568743	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lambert syndrome
Orphanet:155896	Orphanet:156202	\N	"" []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	568744	\N	\N	EFO	2	EFO	Otomandibular dysplasia	Lambert syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	568745	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Lambert syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	1150397	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lambert syndrome
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	1150398	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Lambert syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	4391133	\N	\N	EFO	6	EFO	genetic disorder	Lambert syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	2032652	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Lambert syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	5028383	\N	\N	EFO	7	EFO	disease	Lambert syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	3183195	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lambert syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	5817460	\N	\N	EFO	8	EFO	disposition	Lambert syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	6409819	\N	\N	EFO	9	EFO	material property	Lambert syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1296	"Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." []	6807676	\N	\N	EFO	10	EFO	experimental factor	Lambert syndrome
Orphanet:1297	\N	\N	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	73420	\N	\N	EFO	0	EFO	Branchio-oculo-facial syndrome	Branchio-oculo-facial syndrome
Orphanet:139039	Orphanet:1297	\N	"" []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	214710	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Branchio-oculo-facial syndrome
Orphanet:330206	Orphanet:1297	\N	"" []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	214711	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Branchio-oculo-facial syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	568746	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Branchio-oculo-facial syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	568747	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Branchio-oculo-facial syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	1150400	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Branchio-oculo-facial syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	1150401	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Branchio-oculo-facial syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	2032654	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Branchio-oculo-facial syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	4391135	\N	\N	EFO	6	EFO	genetic disorder	Branchio-oculo-facial syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	3183197	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Branchio-oculo-facial syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	5059578	\N	\N	EFO	7	EFO	disease	Branchio-oculo-facial syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	5876740	\N	\N	EFO	8	EFO	disposition	Branchio-oculo-facial syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	6469952	\N	\N	EFO	9	EFO	material property	Branchio-oculo-facial syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1297	"Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." []	6848269	\N	\N	EFO	10	EFO	experimental factor	Branchio-oculo-facial syndrome
Orphanet:1299	\N	\N	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	73421	\N	\N	EFO	0	EFO	Branchio-skeleto-genital syndrome	Branchio-skeleto-genital syndrome
Orphanet:102283	Orphanet:1299	\N	"" []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	214712	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Branchio-skeleto-genital syndrome
Orphanet:165707	Orphanet:1299	\N	"" []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	214713	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Branchio-skeleto-genital syndrome
Orphanet:183763	Orphanet:1299	\N	"" []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	214714	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Branchio-skeleto-genital syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	568748	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Branchio-skeleto-genital syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	568749	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Branchio-skeleto-genital syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	568750	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Branchio-skeleto-genital syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	1150402	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Branchio-skeleto-genital syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	1150403	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Branchio-skeleto-genital syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	1150404	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Branchio-skeleto-genital syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	2032656	\N	\N	EFO	4	EFO	genetic disorder	Branchio-skeleto-genital syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	2032657	\N	\N	EFO	4	EFO	genetic disorder	Branchio-skeleto-genital syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	2032658	\N	\N	EFO	4	EFO	genetic disorder	Branchio-skeleto-genital syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	3183199	\N	\N	EFO	5	EFO	disease	Branchio-skeleto-genital syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	4391137	\N	\N	EFO	6	EFO	disposition	Branchio-skeleto-genital syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	5410327	\N	\N	EFO	7	EFO	material property	Branchio-skeleto-genital syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1299	"Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." []	6148074	\N	\N	EFO	8	EFO	experimental factor	Branchio-skeleto-genital syndrome
Orphanet:13	\N	\N	"" []	Orphanet:13	"" []	73422	\N	\N	EFO	0	EFO	6-pyruvoyl-tetrahydropterin synthase deficiency	6-pyruvoyl-tetrahydropterin synthase deficiency
Orphanet:238583	Orphanet:13	\N	"" []	Orphanet:13	"" []	214715	\N	\N	EFO	1	EFO	Hyperphenylalaninemia	6-pyruvoyl-tetrahydropterin synthase deficiency
Orphanet:309819	Orphanet:238583	\N	"" []	Orphanet:13	"" []	568751	\N	\N	EFO	2	EFO	Disorder of pterin metabolism	6-pyruvoyl-tetrahydropterin synthase deficiency
Orphanet:68385	Orphanet:238583	\N	"" []	Orphanet:13	"" []	568752	\N	\N	EFO	2	EFO	Neurometabolic disease	6-pyruvoyl-tetrahydropterin synthase deficiency
Orphanet:79169	Orphanet:309819	\N	"" []	Orphanet:13	"" []	1150405	\N	\N	EFO	3	EFO	Disorder of neurotransmitter metabolism and transport	6-pyruvoyl-tetrahydropterin synthase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:13	"" []	1150406	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	6-pyruvoyl-tetrahydropterin synthase deficiency
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:13	"" []	2032659	\N	\N	EFO	4	EFO	Disorder of biogenic amine metabolism and transport	6-pyruvoyl-tetrahydropterin synthase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:13	"" []	2032660	\N	\N	EFO	4	EFO	genetic disorder	6-pyruvoyl-tetrahydropterin synthase deficiency
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:13	"" []	3183200	\N	\N	EFO	5	EFO	Inborn errors of metabolism	6-pyruvoyl-tetrahydropterin synthase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:13	"" []	5410328	\N	\N	EFO	7	EFO	disease	6-pyruvoyl-tetrahydropterin synthase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:13	"" []	4391138	\N	\N	EFO	6	EFO	genetic disorder	6-pyruvoyl-tetrahydropterin synthase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:13	"" []	4391139	\N	\N	EFO	6	EFO	metabolic disease	6-pyruvoyl-tetrahydropterin synthase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:13	"" []	5876741	\N	\N	EFO	8	EFO	disposition	6-pyruvoyl-tetrahydropterin synthase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:13	"" []	5410329	\N	\N	EFO	7	EFO	disease	6-pyruvoyl-tetrahydropterin synthase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:13	"" []	6469953	\N	\N	EFO	9	EFO	material property	6-pyruvoyl-tetrahydropterin synthase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:13	"" []	6848270	\N	\N	EFO	10	EFO	experimental factor	6-pyruvoyl-tetrahydropterin synthase deficiency
Orphanet:130	\N	\N	"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." []	Orphanet:130	"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." []	73423	\N	\N	EFO	0	EFO	Brugada syndrome	Brugada syndrome
Orphanet:101934	Orphanet:130	\N	"" []	Orphanet:130	"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." []	214716	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Brugada syndrome
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:130	"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." []	568753	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Brugada syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:130	"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." []	1150407	\N	\N	EFO	3	EFO	genetic disorder	Brugada syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:130	"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." []	1150408	\N	\N	EFO	3	EFO	heart disease	Brugada syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:130	"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." []	2032661	\N	\N	EFO	4	EFO	disease	Brugada syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:130	"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." []	2032662	\N	\N	EFO	4	EFO	cardiovascular disease	Brugada syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:130	"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." []	4391142	\N	\N	EFO	6	EFO	disposition	Brugada syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:130	"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." []	3183203	\N	\N	EFO	5	EFO	disease	Brugada syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:130	"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." []	5181538	\N	\N	EFO	7	EFO	material property	Brugada syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:130	"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." []	5996918	\N	\N	EFO	8	EFO	experimental factor	Brugada syndrome
Orphanet:1300	\N	\N	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	73424	\N	\N	EFO	0	EFO	Autosomal dominant popliteal pterygium syndrome	Autosomal dominant popliteal pterygium syndrome
Orphanet:108987	Orphanet:1300	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	214717	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Autosomal dominant popliteal pterygium syndrome
Orphanet:294963	Orphanet:1300	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	214718	\N	\N	EFO	1	EFO	Popliteal pterygium syndrome	Autosomal dominant popliteal pterygium syndrome
Orphanet:330197	Orphanet:1300	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	214719	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Autosomal dominant popliteal pterygium syndrome
Orphanet:98565	Orphanet:1300	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	214720	\N	\N	EFO	1	EFO	Syndromic ankyloblepharon	Autosomal dominant popliteal pterygium syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	568754	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Autosomal dominant popliteal pterygium syndrome
Orphanet:109007	Orphanet:294963	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	568755	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Autosomal dominant popliteal pterygium syndrome
Orphanet:156237	Orphanet:294963	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	568756	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Autosomal dominant popliteal pterygium syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	568757	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Autosomal dominant popliteal pterygium syndrome
Orphanet:98564	Orphanet:98565	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	568758	\N	\N	EFO	2	EFO	Eyelid border anomaly	Autosomal dominant popliteal pterygium syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	1150409	\N	\N	EFO	3	EFO	Rare genetic eye disease	Autosomal dominant popliteal pterygium syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	1150410	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant popliteal pterygium syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	1150411	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Autosomal dominant popliteal pterygium syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	1150412	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Autosomal dominant popliteal pterygium syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	1150413	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant popliteal pterygium syndrome
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	1150414	\N	\N	EFO	3	EFO	Eyelid malformation	Autosomal dominant popliteal pterygium syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	5410333	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant popliteal pterygium syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	5410334	\N	\N	EFO	7	EFO	eye disease	Autosomal dominant popliteal pterygium syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	4391144	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant popliteal pterygium syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	2032666	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Autosomal dominant popliteal pterygium syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	2032667	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Autosomal dominant popliteal pterygium syndrome
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	2032668	\N	\N	EFO	4	EFO	Rare palpebral disease	Autosomal dominant popliteal pterygium syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	5817461	\N	\N	EFO	8	EFO	disease	Autosomal dominant popliteal pterygium syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	5817462	\N	\N	EFO	8	EFO	disease	Autosomal dominant popliteal pterygium syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	3183206	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant popliteal pterygium syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	3183207	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant popliteal pterygium syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	3183208	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Autosomal dominant popliteal pterygium syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	6409820	\N	\N	EFO	9	EFO	disposition	Autosomal dominant popliteal pterygium syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	4391145	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal dominant popliteal pterygium syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	6807677	\N	\N	EFO	10	EFO	material property	Autosomal dominant popliteal pterygium syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1300	"Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." []	7048537	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant popliteal pterygium syndrome
Orphanet:1305	\N	\N	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	73425	\N	\N	EFO	0	EFO	Feingold syndrome	Feingold syndrome
Orphanet:108965	Orphanet:1305	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	214721	\N	\N	EFO	1	EFO	Syndromic gastroduodenal malformation	Feingold syndrome
Orphanet:108993	Orphanet:1305	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	214722	\N	\N	EFO	1	EFO	Non-syndromic respiratory or mediastinal malformation	Feingold syndrome
Orphanet:330197	Orphanet:1305	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	214723	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Feingold syndrome
Orphanet:371445	Orphanet:1305	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	214724	\N	\N	EFO	1	EFO	Genetic syndromic esophageal malformation	Feingold syndrome
Orphanet:69028	Orphanet:1305	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	214725	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Feingold syndrome
Orphanet:97944	Orphanet:108965	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	568759	\N	\N	EFO	2	EFO	Gastroduodenal malformation	Feingold syndrome
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	568760	\N	\N	EFO	2	EFO	Genetic respiratory or mediastinal malformation	Feingold syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	568761	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Feingold syndrome
Orphanet:88993	Orphanet:371445	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	568762	\N	\N	EFO	2	EFO	Esophageal malformation	Feingold syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	568763	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Feingold syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	568764	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Feingold syndrome
Orphanet:183545	Orphanet:97944	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	1150415	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Feingold syndrome
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	1150416	\N	\N	EFO	3	EFO	respiratory system disease	Feingold syndrome
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	1150417	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	1150418	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	1150419	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Feingold syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	1150420	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Feingold syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	1150421	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Feingold syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	2032669	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	2032670	\N	\N	EFO	4	EFO	disease	Feingold syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	4391149	\N	\N	EFO	6	EFO	genetic disorder	Feingold syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	2032672	\N	\N	EFO	4	EFO	Rare genetic bone disease	Feingold syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	2032673	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Feingold syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	2032674	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	5876744	\N	\N	EFO	8	EFO	disposition	Feingold syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	5059580	\N	\N	EFO	7	EFO	disease	Feingold syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	3183212	\N	\N	EFO	5	EFO	genetic disorder	Feingold syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	3183213	\N	\N	EFO	5	EFO	bone disease	Feingold syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	3183214	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	6409821	\N	\N	EFO	9	EFO	material property	Feingold syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	4391148	\N	\N	EFO	6	EFO	skeletal system disease	Feingold syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	6807678	\N	\N	EFO	10	EFO	experimental factor	Feingold syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1305	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	5410336	\N	\N	EFO	7	EFO	disease	Feingold syndrome
Orphanet:1306	\N	\N	"" []	Orphanet:1306	"" []	73426	\N	\N	EFO	0	EFO	Buschke-Ollendorff syndrome	Buschke-Ollendorff syndrome
Orphanet:228215	Orphanet:1306	\N	"" []	Orphanet:1306	"" []	214726	\N	\N	EFO	1	EFO	Genetic dermis elastic tissue disorder	Buschke-Ollendorff syndrome
Orphanet:2781	Orphanet:1306	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:1306	"" []	214727	\N	\N	EFO	1	EFO	Osteopetrosis	Buschke-Ollendorff syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:1306	"" []	568765	\N	\N	EFO	2	EFO	Genetic dermis disorder	Buschke-Ollendorff syndrome
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:1306	"" []	568766	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Buschke-Ollendorff syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:1306	"" []	1150422	\N	\N	EFO	3	EFO	Rare genetic skin disease	Buschke-Ollendorff syndrome
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:1306	"" []	1150423	\N	\N	EFO	3	EFO	Primary bone dysplasia	Buschke-Ollendorff syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1306	"" []	2032675	\N	\N	EFO	4	EFO	genetic disorder	Buschke-Ollendorff syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1306	"" []	2032676	\N	\N	EFO	4	EFO	skin disease	Buschke-Ollendorff syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1306	"" []	2032677	\N	\N	EFO	4	EFO	Rare genetic bone disease	Buschke-Ollendorff syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1306	"" []	2032678	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Buschke-Ollendorff syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1306	"" []	5410339	\N	\N	EFO	7	EFO	disease	Buschke-Ollendorff syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1306	"" []	3183216	\N	\N	EFO	5	EFO	disease	Buschke-Ollendorff syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1306	"" []	3183217	\N	\N	EFO	5	EFO	genetic disorder	Buschke-Ollendorff syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1306	"" []	3183218	\N	\N	EFO	5	EFO	bone disease	Buschke-Ollendorff syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1306	"" []	3183219	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Buschke-Ollendorff syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1306	"" []	5876745	\N	\N	EFO	8	EFO	disposition	Buschke-Ollendorff syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1306	"" []	4391152	\N	\N	EFO	6	EFO	skeletal system disease	Buschke-Ollendorff syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1306	"" []	4391153	\N	\N	EFO	6	EFO	genetic disorder	Buschke-Ollendorff syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1306	"" []	6469956	\N	\N	EFO	9	EFO	material property	Buschke-Ollendorff syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1306	"" []	5410338	\N	\N	EFO	7	EFO	disease	Buschke-Ollendorff syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1306	"" []	6848272	\N	\N	EFO	10	EFO	experimental factor	Buschke-Ollendorff syndrome
Orphanet:1307	\N	\N	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	73427	\N	\N	EFO	0	EFO	Distal limb deficiencies - micrognathia syndrome	Distal limb deficiencies - micrognathia syndrome
Orphanet:262914	Orphanet:1307	\N	"" []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	214728	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 10	Distal limb deficiencies - micrognathia syndrome
Orphanet:330197	Orphanet:1307	\N	"" []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	214729	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Distal limb deficiencies - micrognathia syndrome
Orphanet:262648	Orphanet:262914	\N	"" []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	568767	\N	\N	EFO	2	EFO	Partial duplication of chromosome 10	Distal limb deficiencies - micrognathia syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	568768	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Distal limb deficiencies - micrognathia syndrome
Orphanet:98132	Orphanet:262648	\N	"" []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	1150424	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal limb deficiencies - micrognathia syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	1150425	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Distal limb deficiencies - micrognathia syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	2032679	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal limb deficiencies - micrognathia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	2032680	\N	\N	EFO	4	EFO	genetic disorder	Distal limb deficiencies - micrognathia syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	3183220	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal limb deficiencies - micrognathia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	6148078	\N	\N	EFO	8	EFO	disease	Distal limb deficiencies - micrognathia syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	4391154	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal limb deficiencies - micrognathia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	6409822	\N	\N	EFO	9	EFO	disposition	Distal limb deficiencies - micrognathia syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	5410340	\N	\N	EFO	7	EFO	genetic disorder	Distal limb deficiencies - micrognathia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	6807679	\N	\N	EFO	10	EFO	material property	Distal limb deficiencies - micrognathia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1307	"The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." []	7048538	\N	\N	EFO	11	EFO	experimental factor	Distal limb deficiencies - micrognathia syndrome
Orphanet:1308	\N	\N	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	73428	\N	\N	EFO	0	EFO	C syndrome	C syndrome
Orphanet:102283	Orphanet:1308	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	214730	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	C syndrome
Orphanet:139393	Orphanet:1308	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	214731	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	C syndrome
Orphanet:183763	Orphanet:1308	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	214732	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	C syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	568769	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	C syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	568770	\N	\N	EFO	2	EFO	Craniosynostosis	C syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	568771	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	C syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	1150426	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	C syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	1150427	\N	\N	EFO	3	EFO	Genetic cranial malformation	C syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	1150428	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	C syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	1150429	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	C syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	4391158	\N	\N	EFO	6	EFO	genetic disorder	C syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	2032682	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	C syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	2032683	\N	\N	EFO	4	EFO	Rare genetic bone disease	C syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	2032684	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	C syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	2032685	\N	\N	EFO	4	EFO	genetic disorder	C syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	5059581	\N	\N	EFO	7	EFO	disease	C syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	3183224	\N	\N	EFO	5	EFO	genetic disorder	C syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	3183225	\N	\N	EFO	5	EFO	bone disease	C syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	3183226	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	C syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	5876746	\N	\N	EFO	8	EFO	disposition	C syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	4391157	\N	\N	EFO	6	EFO	skeletal system disease	C syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	6469957	\N	\N	EFO	9	EFO	material property	C syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	5410343	\N	\N	EFO	7	EFO	disease	C syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1308	"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." []	6848273	\N	\N	EFO	10	EFO	experimental factor	C syndrome
Orphanet:1309	\N	\N	"" []	Orphanet:1309	"" []	73429	\N	\N	EFO	0	EFO	Medullary sponge kidney	Medullary sponge kidney
Orphanet:357506	Orphanet:1309	\N	"" []	Orphanet:1309	"" []	214733	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Medullary sponge kidney
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:1309	"" []	568772	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Medullary sponge kidney
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1309	"" []	1150430	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Medullary sponge kidney
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1309	"" []	1150431	\N	\N	EFO	3	EFO	Rare genetic renal disease	Medullary sponge kidney
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1309	"" []	2032686	\N	\N	EFO	4	EFO	genetic disorder	Medullary sponge kidney
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1309	"" []	2032687	\N	\N	EFO	4	EFO	genetic disorder	Medullary sponge kidney
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1309	"" []	3183227	\N	\N	EFO	5	EFO	disease	Medullary sponge kidney
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1309	"" []	4391159	\N	\N	EFO	6	EFO	disposition	Medullary sponge kidney
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1309	"" []	5410344	\N	\N	EFO	7	EFO	material property	Medullary sponge kidney
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1309	"" []	6148081	\N	\N	EFO	8	EFO	experimental factor	Medullary sponge kidney
Orphanet:1310	\N	\N	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	73430	\N	\N	EFO	0	EFO	Caffey disease	Caffey disease
Orphanet:93443	Orphanet:1310	\N	"" []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	214734	\N	\N	EFO	1	EFO	Neonatal osteosclerotic dysplasia	Caffey disease
Orphanet:93444	Orphanet:93443	\N	"" []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	568773	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Caffey disease
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	1150432	\N	\N	EFO	3	EFO	Primary bone dysplasia	Caffey disease
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	2032688	\N	\N	EFO	4	EFO	Rare genetic bone disease	Caffey disease
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	2032689	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Caffey disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	3183228	\N	\N	EFO	5	EFO	genetic disorder	Caffey disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	3183229	\N	\N	EFO	5	EFO	bone disease	Caffey disease
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	3183230	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Caffey disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	5410347	\N	\N	EFO	7	EFO	disease	Caffey disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	4391161	\N	\N	EFO	6	EFO	skeletal system disease	Caffey disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	4391162	\N	\N	EFO	6	EFO	genetic disorder	Caffey disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	5996922	\N	\N	EFO	8	EFO	disposition	Caffey disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	5410346	\N	\N	EFO	7	EFO	disease	Caffey disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	6550508	\N	\N	EFO	9	EFO	material property	Caffey disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1310	"A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." []	6889023	\N	\N	EFO	10	EFO	experimental factor	Caffey disease
Orphanet:1318	\N	\N	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	73431	\N	\N	EFO	0	EFO	Campomelia, Cumming type	Campomelia, Cumming type
Orphanet:330197	Orphanet:1318	\N	"" []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	214735	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Campomelia, Cumming type
Orphanet:89832	Orphanet:1318	\N	"" []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	214736	\N	\N	EFO	1	EFO	Syndromic lymphedema	Campomelia, Cumming type
Orphanet:93439	Orphanet:1318	\N	"" []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	214737	\N	\N	EFO	1	EFO	Bent bone dysplasia	Campomelia, Cumming type
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	568774	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Campomelia, Cumming type
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	568775	\N	\N	EFO	2	EFO	Lymphedema	Campomelia, Cumming type
Orphanet:364526	Orphanet:93439	\N	"" []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	568776	\N	\N	EFO	2	EFO	Primary bone dysplasia	Campomelia, Cumming type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	1150433	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Campomelia, Cumming type
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	1150434	\N	\N	EFO	3	EFO	Rare genetic skin disease	Campomelia, Cumming type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	1150435	\N	\N	EFO	3	EFO	Rare genetic bone disease	Campomelia, Cumming type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	1150436	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Campomelia, Cumming type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	3183234	\N	\N	EFO	5	EFO	genetic disorder	Campomelia, Cumming type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	2032691	\N	\N	EFO	4	EFO	genetic disorder	Campomelia, Cumming type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	2032692	\N	\N	EFO	4	EFO	skin disease	Campomelia, Cumming type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	2032693	\N	\N	EFO	4	EFO	genetic disorder	Campomelia, Cumming type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	2032694	\N	\N	EFO	4	EFO	bone disease	Campomelia, Cumming type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	2032695	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Campomelia, Cumming type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	4133249	\N	\N	EFO	6	EFO	disease	Campomelia, Cumming type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	3183232	\N	\N	EFO	5	EFO	disease	Campomelia, Cumming type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	3183233	\N	\N	EFO	5	EFO	skeletal system disease	Campomelia, Cumming type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	5181543	\N	\N	EFO	7	EFO	disposition	Campomelia, Cumming type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	4391164	\N	\N	EFO	6	EFO	disease	Campomelia, Cumming type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	5996923	\N	\N	EFO	8	EFO	material property	Campomelia, Cumming type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1318	"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." []	6550509	\N	\N	EFO	9	EFO	experimental factor	Campomelia, Cumming type
Orphanet:1319	\N	\N	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	73432	\N	\N	EFO	0	EFO	Camptobrachydactyly	Camptobrachydactyly
Orphanet:69028	Orphanet:1319	\N	"" []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	214738	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Camptobrachydactyly
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	568777	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Camptobrachydactyly
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	568778	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Camptobrachydactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	1150437	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Camptobrachydactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	1150438	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Camptobrachydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	2032696	\N	\N	EFO	4	EFO	Rare genetic bone disease	Camptobrachydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	2032697	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Camptobrachydactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	2032698	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Camptobrachydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	3183235	\N	\N	EFO	5	EFO	genetic disorder	Camptobrachydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	3183236	\N	\N	EFO	5	EFO	bone disease	Camptobrachydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	3183237	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Camptobrachydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	4391167	\N	\N	EFO	6	EFO	genetic disorder	Camptobrachydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	5181544	\N	\N	EFO	7	EFO	disease	Camptobrachydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	4391166	\N	\N	EFO	6	EFO	skeletal system disease	Camptobrachydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	5996924	\N	\N	EFO	8	EFO	disposition	Camptobrachydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	5410350	\N	\N	EFO	7	EFO	disease	Camptobrachydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	6550510	\N	\N	EFO	9	EFO	material property	Camptobrachydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1319	"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." []	6889024	\N	\N	EFO	10	EFO	experimental factor	Camptobrachydactyly
Orphanet:132	\N	\N	"" []	Orphanet:132	"" []	73433	\N	\N	EFO	0	EFO	Butyrylcholinesterase deficiency	Butyrylcholinesterase deficiency
Orphanet:79219	Orphanet:132	\N	"" []	Orphanet:132	"" []	214739	\N	\N	EFO	1	EFO	Metabolic disease involving other neurotransmitter deficiency	Butyrylcholinesterase deficiency
Orphanet:79214	Orphanet:79219	\N	"" []	Orphanet:132	"" []	568779	\N	\N	EFO	2	EFO	Disorder of biogenic amine metabolism and transport	Butyrylcholinesterase deficiency
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:132	"" []	1150439	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Butyrylcholinesterase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:132	"" []	2032699	\N	\N	EFO	4	EFO	genetic disorder	Butyrylcholinesterase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:132	"" []	2032700	\N	\N	EFO	4	EFO	metabolic disease	Butyrylcholinesterase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:132	"" []	3183239	\N	\N	EFO	5	EFO	disease	Butyrylcholinesterase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:132	"" []	3183240	\N	\N	EFO	5	EFO	disease	Butyrylcholinesterase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:132	"" []	4391168	\N	\N	EFO	6	EFO	disposition	Butyrylcholinesterase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:132	"" []	5410351	\N	\N	EFO	7	EFO	material property	Butyrylcholinesterase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:132	"" []	6148085	\N	\N	EFO	8	EFO	experimental factor	Butyrylcholinesterase deficiency
Orphanet:1325	\N	\N	"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in I7 affected people from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." []	Orphanet:1325	"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in I7 affected people from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." []	73434	\N	\N	EFO	0	EFO	Camptodactyly - taurinuria	Camptodactyly - taurinuria
Orphanet:404577	Orphanet:1325	\N	"" []	Orphanet:1325	"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in I7 affected people from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." []	214740	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Camptodactyly - taurinuria
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1325	"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in I7 affected people from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." []	568780	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Camptodactyly - taurinuria
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1325	"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in I7 affected people from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." []	1150440	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Camptodactyly - taurinuria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1325	"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in I7 affected people from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." []	2032701	\N	\N	EFO	4	EFO	genetic disorder	Camptodactyly - taurinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1325	"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in I7 affected people from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." []	3183241	\N	\N	EFO	5	EFO	disease	Camptodactyly - taurinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1325	"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in I7 affected people from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." []	4391169	\N	\N	EFO	6	EFO	disposition	Camptodactyly - taurinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1325	"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in I7 affected people from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." []	5410352	\N	\N	EFO	7	EFO	material property	Camptodactyly - taurinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1325	"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in I7 affected people from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." []	6148086	\N	\N	EFO	8	EFO	experimental factor	Camptodactyly - taurinuria
Orphanet:1326	\N	\N	"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." []	Orphanet:1326	"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." []	73435	\N	\N	EFO	0	EFO	Camptodactyly syndrome, Guadalajara type 2	Camptodactyly syndrome, Guadalajara type 2
Orphanet:330206	Orphanet:1326	\N	"" []	Orphanet:1326	"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." []	214741	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Camptodactyly syndrome, Guadalajara type 2
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1326	"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." []	568781	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Camptodactyly syndrome, Guadalajara type 2
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1326	"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." []	1150441	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Camptodactyly syndrome, Guadalajara type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1326	"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." []	2032702	\N	\N	EFO	4	EFO	genetic disorder	Camptodactyly syndrome, Guadalajara type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1326	"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." []	3183242	\N	\N	EFO	5	EFO	disease	Camptodactyly syndrome, Guadalajara type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1326	"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." []	4391170	\N	\N	EFO	6	EFO	disposition	Camptodactyly syndrome, Guadalajara type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1326	"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." []	5410353	\N	\N	EFO	7	EFO	material property	Camptodactyly syndrome, Guadalajara type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1326	"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." []	6148087	\N	\N	EFO	8	EFO	experimental factor	Camptodactyly syndrome, Guadalajara type 2
Orphanet:1327	\N	\N	"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." []	Orphanet:1327	"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." []	73436	\N	\N	EFO	0	EFO	Camptodactyly syndrome, Guadalajara type 1	Camptodactyly syndrome, Guadalajara type 1
Orphanet:330206	Orphanet:1327	\N	"" []	Orphanet:1327	"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." []	214742	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Camptodactyly syndrome, Guadalajara type 1
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1327	"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." []	568782	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Camptodactyly syndrome, Guadalajara type 1
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1327	"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." []	1150442	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Camptodactyly syndrome, Guadalajara type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1327	"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." []	2032703	\N	\N	EFO	4	EFO	genetic disorder	Camptodactyly syndrome, Guadalajara type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1327	"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." []	3183243	\N	\N	EFO	5	EFO	disease	Camptodactyly syndrome, Guadalajara type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1327	"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." []	4391171	\N	\N	EFO	6	EFO	disposition	Camptodactyly syndrome, Guadalajara type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1327	"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." []	5410354	\N	\N	EFO	7	EFO	material property	Camptodactyly syndrome, Guadalajara type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1327	"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." []	6148088	\N	\N	EFO	8	EFO	experimental factor	Camptodactyly syndrome, Guadalajara type 1
Orphanet:1328	\N	\N	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	73437	\N	\N	EFO	0	EFO	Camurati-Engelmann disease	Camurati-Engelmann disease
Orphanet:93444	Orphanet:1328	\N	"" []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	214743	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Camurati-Engelmann disease
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	568783	\N	\N	EFO	2	EFO	Primary bone dysplasia	Camurati-Engelmann disease
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	1150443	\N	\N	EFO	3	EFO	Rare genetic bone disease	Camurati-Engelmann disease
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	1150444	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Camurati-Engelmann disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	2032704	\N	\N	EFO	4	EFO	genetic disorder	Camurati-Engelmann disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	2032705	\N	\N	EFO	4	EFO	bone disease	Camurati-Engelmann disease
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	2032706	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Camurati-Engelmann disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	4391174	\N	\N	EFO	6	EFO	disease	Camurati-Engelmann disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	3183245	\N	\N	EFO	5	EFO	skeletal system disease	Camurati-Engelmann disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	3183246	\N	\N	EFO	5	EFO	genetic disorder	Camurati-Engelmann disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	5181545	\N	\N	EFO	7	EFO	disposition	Camurati-Engelmann disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	4391173	\N	\N	EFO	6	EFO	disease	Camurati-Engelmann disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	5996925	\N	\N	EFO	8	EFO	material property	Camurati-Engelmann disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1328	"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." []	6550511	\N	\N	EFO	9	EFO	experimental factor	Camurati-Engelmann disease
Orphanet:1331	\N	\N	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	73438	\N	\N	EFO	0	EFO	Familial prostate cancer	Familial prostate cancer
EFO:0000512	Orphanet:1331	\N	"any diease of the reproductive system" []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	214744	\N	\N	EFO	1	EFO	reproductive system disease	Familial prostate cancer
Orphanet:156619	Orphanet:1331	\N	"" []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	214745	\N	\N	EFO	1	EFO	Rare genetic urogenital disease	Familial prostate cancer
Orphanet:271844	Orphanet:1331	\N	"" []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	214746	\N	\N	EFO	1	EFO	Genetic urogenital tumor	Familial prostate cancer
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	568784	\N	\N	EFO	2	EFO	disease	Familial prostate cancer
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	568785	\N	\N	EFO	2	EFO	genetic disorder	Familial prostate cancer
EFO:0003863	Orphanet:271844	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	568786	\N	\N	EFO	2	EFO	urogenital neoplasm	Familial prostate cancer
Orphanet:68336	Orphanet:271844	\N	"" []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	568787	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial prostate cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	3000120	\N	\N	EFO	5	EFO	disposition	Familial prostate cancer
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	2032710	\N	\N	EFO	4	EFO	disease	Familial prostate cancer
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	1150447	\N	\N	EFO	3	EFO	neoplasm	Familial prostate cancer
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	1150448	\N	\N	EFO	3	EFO	genetic disorder	Familial prostate cancer
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	1150449	\N	\N	EFO	3	EFO	neoplasm	Familial prostate cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	4066843	\N	\N	EFO	6	EFO	material property	Familial prostate cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	2032709	\N	\N	EFO	4	EFO	disease	Familial prostate cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1331	"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." []	5059582	\N	\N	EFO	7	EFO	experimental factor	Familial prostate cancer
Orphanet:1333	\N	\N	"" []	Orphanet:1333	"" []	73439	\N	\N	EFO	0	EFO	Familial pancreatic carcinoma	Familial pancreatic carcinoma
Orphanet:165661	Orphanet:1333	\N	"" []	Orphanet:1333	"" []	214747	\N	\N	EFO	1	EFO	Genetic pancreatic disease	Familial pancreatic carcinoma
EFO:0001379	Orphanet:165661	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1333	"" []	568788	\N	\N	EFO	2	EFO	endocrine system disease	Familial pancreatic carcinoma
Orphanet:165652	Orphanet:165661	\N	"" []	Orphanet:1333	"" []	568789	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Familial pancreatic carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1333	"" []	1150450	\N	\N	EFO	3	EFO	disease	Familial pancreatic carcinoma
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1333	"" []	1150451	\N	\N	EFO	3	EFO	genetic disorder	Familial pancreatic carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1333	"" []	3183249	\N	\N	EFO	5	EFO	disposition	Familial pancreatic carcinoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1333	"" []	2032712	\N	\N	EFO	4	EFO	disease	Familial pancreatic carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1333	"" []	4133251	\N	\N	EFO	6	EFO	material property	Familial pancreatic carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1333	"" []	5181546	\N	\N	EFO	7	EFO	experimental factor	Familial pancreatic carcinoma
Orphanet:1334	\N	\N	"." []	Orphanet:1334	"." []	73440	\N	\N	EFO	0	EFO	Chronic mucocutaneous candidosis	Chronic mucocutaneous candidosis
Orphanet:183494	Orphanet:1334	\N	"" []	Orphanet:1334	"." []	214748	\N	\N	EFO	1	EFO	Genetic immune deficiency with skin involvement	Chronic mucocutaneous candidosis
Orphanet:183710	Orphanet:1334	\N	"" []	Orphanet:1334	"." []	214749	\N	\N	EFO	1	EFO	Genetic susceptibility to infections due to particular pathogens	Chronic mucocutaneous candidosis
Orphanet:68346	Orphanet:183494	\N	"" []	Orphanet:1334	"." []	568790	\N	\N	EFO	2	EFO	Rare genetic skin disease	Chronic mucocutaneous candidosis
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:1334	"." []	568791	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Chronic mucocutaneous candidosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1334	"." []	1150452	\N	\N	EFO	3	EFO	genetic disorder	Chronic mucocutaneous candidosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1334	"." []	1150453	\N	\N	EFO	3	EFO	skin disease	Chronic mucocutaneous candidosis
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:1334	"." []	1150454	\N	\N	EFO	3	EFO	Primary immunodeficiency	Chronic mucocutaneous candidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1334	"." []	4391177	\N	\N	EFO	6	EFO	disease	Chronic mucocutaneous candidosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1334	"." []	2032714	\N	\N	EFO	4	EFO	disease	Chronic mucocutaneous candidosis
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:1334	"." []	2032715	\N	\N	EFO	4	EFO	Rare genetic immune disease	Chronic mucocutaneous candidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1334	"." []	5059583	\N	\N	EFO	7	EFO	disposition	Chronic mucocutaneous candidosis
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1334	"." []	3183251	\N	\N	EFO	5	EFO	genetic disorder	Chronic mucocutaneous candidosis
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:1334	"." []	3183252	\N	\N	EFO	5	EFO	immune system disease	Chronic mucocutaneous candidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1334	"." []	5876747	\N	\N	EFO	8	EFO	material property	Chronic mucocutaneous candidosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1334	"." []	4391178	\N	\N	EFO	6	EFO	disease	Chronic mucocutaneous candidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1334	"." []	6469958	\N	\N	EFO	9	EFO	experimental factor	Chronic mucocutaneous candidosis
Orphanet:1335	\N	\N	"Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various congenital heart malformation (see this term). Ectopia cordis, (EC) dyspnea, cyanosis and lung infections are frequent." []	Orphanet:1335	"Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various congenital heart malformation (see this term). Ectopia cordis, (EC) dyspnea, cyanosis and lung infections are frequent." []	73441	\N	\N	EFO	0	EFO	Cantrell pentalogy	Cantrell pentalogy
Orphanet:330206	Orphanet:1335	\N	"" []	Orphanet:1335	"Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various congenital heart malformation (see this term). Ectopia cordis, (EC) dyspnea, cyanosis and lung infections are frequent." []	214750	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Cantrell pentalogy
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1335	"Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various congenital heart malformation (see this term). Ectopia cordis, (EC) dyspnea, cyanosis and lung infections are frequent." []	568792	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cantrell pentalogy
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1335	"Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various congenital heart malformation (see this term). Ectopia cordis, (EC) dyspnea, cyanosis and lung infections are frequent." []	1150455	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cantrell pentalogy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1335	"Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various congenital heart malformation (see this term). Ectopia cordis, (EC) dyspnea, cyanosis and lung infections are frequent." []	2032716	\N	\N	EFO	4	EFO	genetic disorder	Cantrell pentalogy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1335	"Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various congenital heart malformation (see this term). Ectopia cordis, (EC) dyspnea, cyanosis and lung infections are frequent." []	3183253	\N	\N	EFO	5	EFO	disease	Cantrell pentalogy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1335	"Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various congenital heart malformation (see this term). Ectopia cordis, (EC) dyspnea, cyanosis and lung infections are frequent." []	4391179	\N	\N	EFO	6	EFO	disposition	Cantrell pentalogy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1335	"Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various congenital heart malformation (see this term). Ectopia cordis, (EC) dyspnea, cyanosis and lung infections are frequent." []	5410357	\N	\N	EFO	7	EFO	material property	Cantrell pentalogy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1335	"Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various congenital heart malformation (see this term). Ectopia cordis, (EC) dyspnea, cyanosis and lung infections are frequent." []	6148090	\N	\N	EFO	8	EFO	experimental factor	Cantrell pentalogy
Orphanet:1336	\N	\N	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	73442	\N	\N	EFO	0	EFO	Hyperkeratosis-hyperpigmentation syndrome	Hyperkeratosis-hyperpigmentation syndrome
Orphanet:183466	Orphanet:1336	\N	"" []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	214751	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Hyperkeratosis-hyperpigmentation syndrome
Orphanet:308031	Orphanet:1336	\N	"" []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	214752	\N	\N	EFO	1	EFO	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature	Hyperkeratosis-hyperpigmentation syndrome
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	568793	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Hyperkeratosis-hyperpigmentation syndrome
Orphanet:308023	Orphanet:308031	\N	"" []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	568794	\N	\N	EFO	2	EFO	Disease with punctate palmoplantar keratoderma as a major feature	Hyperkeratosis-hyperpigmentation syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	1150456	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hyperkeratosis-hyperpigmentation syndrome
Orphanet:307967	Orphanet:308023	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	1150457	\N	\N	EFO	3	EFO	Punctate palmoplantar keratoderma	Hyperkeratosis-hyperpigmentation syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	5410360	\N	\N	EFO	7	EFO	genetic disorder	Hyperkeratosis-hyperpigmentation syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	5410361	\N	\N	EFO	7	EFO	skin disease	Hyperkeratosis-hyperpigmentation syndrome
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	2032719	\N	\N	EFO	4	EFO	palmoplantar keratosis	Hyperkeratosis-hyperpigmentation syndrome
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	2032720	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Hyperkeratosis-hyperpigmentation syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	5817463	\N	\N	EFO	8	EFO	disease	Hyperkeratosis-hyperpigmentation syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	5817464	\N	\N	EFO	8	EFO	disease	Hyperkeratosis-hyperpigmentation syndrome
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	3183256	\N	\N	EFO	5	EFO	keratosis	Hyperkeratosis-hyperpigmentation syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	3183257	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Hyperkeratosis-hyperpigmentation syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	6409823	\N	\N	EFO	9	EFO	disposition	Hyperkeratosis-hyperpigmentation syndrome
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	4391181	\N	\N	EFO	6	EFO	skin disease	Hyperkeratosis-hyperpigmentation syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	4391182	\N	\N	EFO	6	EFO	Rare genetic skin disease	Hyperkeratosis-hyperpigmentation syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	6807680	\N	\N	EFO	10	EFO	material property	Hyperkeratosis-hyperpigmentation syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1336	"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." []	7048539	\N	\N	EFO	11	EFO	experimental factor	Hyperkeratosis-hyperpigmentation syndrome
Orphanet:1338	\N	\N	"" []	Orphanet:1338	"" []	73443	\N	\N	EFO	0	EFO	Heart defect-tongue hamartoma-polysyndactyly syndrome	Heart defect-tongue hamartoma-polysyndactyly syndrome
Orphanet:330206	Orphanet:1338	\N	"" []	Orphanet:1338	"" []	214753	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Heart defect-tongue hamartoma-polysyndactyly syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1338	"" []	568795	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Heart defect-tongue hamartoma-polysyndactyly syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1338	"" []	1150458	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Heart defect-tongue hamartoma-polysyndactyly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1338	"" []	2032721	\N	\N	EFO	4	EFO	genetic disorder	Heart defect-tongue hamartoma-polysyndactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1338	"" []	3183258	\N	\N	EFO	5	EFO	disease	Heart defect-tongue hamartoma-polysyndactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1338	"" []	4391183	\N	\N	EFO	6	EFO	disposition	Heart defect-tongue hamartoma-polysyndactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1338	"" []	5410362	\N	\N	EFO	7	EFO	material property	Heart defect-tongue hamartoma-polysyndactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1338	"" []	6148092	\N	\N	EFO	8	EFO	experimental factor	Heart defect-tongue hamartoma-polysyndactyly syndrome
Orphanet:134	\N	\N	"" []	Orphanet:134	"" []	73444	\N	\N	EFO	0	EFO	Ketoacidosis due to beta-ketothiolase deficiency	Ketoacidosis due to beta-ketothiolase deficiency
Orphanet:79163	Orphanet:134	\N	"" []	Orphanet:134	"" []	214754	\N	\N	EFO	1	EFO	Classic organic aciduria	Ketoacidosis due to beta-ketothiolase deficiency
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:134	"" []	568796	\N	\N	EFO	2	EFO	Organic aciduria	Ketoacidosis due to beta-ketothiolase deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:134	"" []	1150459	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Ketoacidosis due to beta-ketothiolase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:134	"" []	2032722	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Ketoacidosis due to beta-ketothiolase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:134	"" []	3183259	\N	\N	EFO	5	EFO	genetic disorder	Ketoacidosis due to beta-ketothiolase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:134	"" []	3183260	\N	\N	EFO	5	EFO	metabolic disease	Ketoacidosis due to beta-ketothiolase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:134	"" []	4391184	\N	\N	EFO	6	EFO	disease	Ketoacidosis due to beta-ketothiolase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:134	"" []	4391185	\N	\N	EFO	6	EFO	disease	Ketoacidosis due to beta-ketothiolase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:134	"" []	5410363	\N	\N	EFO	7	EFO	disposition	Ketoacidosis due to beta-ketothiolase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:134	"" []	6148093	\N	\N	EFO	8	EFO	material property	Ketoacidosis due to beta-ketothiolase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:134	"" []	6632070	\N	\N	EFO	9	EFO	experimental factor	Ketoacidosis due to beta-ketothiolase deficiency
Orphanet:1340	\N	\N	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	73445	\N	\N	EFO	0	EFO	Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome
Orphanet:102283	Orphanet:1340	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	214755	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cardiofaciocutaneous syndrome
Orphanet:183763	Orphanet:1340	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	214756	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cardiofaciocutaneous syndrome
Orphanet:79373	Orphanet:1340	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	214757	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Cardiofaciocutaneous syndrome
Orphanet:98733	Orphanet:1340	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	214758	\N	\N	EFO	1	EFO	Noonan syndrome and Noonan-related syndrome	Cardiofaciocutaneous syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	568797	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cardiofaciocutaneous syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	568798	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cardiofaciocutaneous syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	568799	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Cardiofaciocutaneous syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	568800	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Cardiofaciocutaneous syndrome
Orphanet:183570	Orphanet:98733	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	568801	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Cardiofaciocutaneous syndrome
Orphanet:217595	Orphanet:98733	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	568802	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	Cardiofaciocutaneous syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	1150460	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cardiofaciocutaneous syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	1150461	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cardiofaciocutaneous syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	1150462	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cardiofaciocutaneous syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	1150463	\N	\N	EFO	3	EFO	Rare genetic skin disease	Cardiofaciocutaneous syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	1150464	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cardiofaciocutaneous syndrome
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	1150465	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Cardiofaciocutaneous syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	2032723	\N	\N	EFO	4	EFO	genetic disorder	Cardiofaciocutaneous syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	2032724	\N	\N	EFO	4	EFO	genetic disorder	Cardiofaciocutaneous syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	2032725	\N	\N	EFO	4	EFO	genetic disorder	Cardiofaciocutaneous syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	2032726	\N	\N	EFO	4	EFO	skin disease	Cardiofaciocutaneous syndrome
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	2032727	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Cardiofaciocutaneous syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	4391187	\N	\N	EFO	6	EFO	disease	Cardiofaciocutaneous syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	3183262	\N	\N	EFO	5	EFO	disease	Cardiofaciocutaneous syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	3183263	\N	\N	EFO	5	EFO	genetic disorder	Cardiofaciocutaneous syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	3183264	\N	\N	EFO	5	EFO	heart disease	Cardiofaciocutaneous syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	6148095	\N	\N	EFO	8	EFO	disposition	Cardiofaciocutaneous syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	4391188	\N	\N	EFO	6	EFO	cardiovascular disease	Cardiofaciocutaneous syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	6469960	\N	\N	EFO	9	EFO	material property	Cardiofaciocutaneous syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	5410365	\N	\N	EFO	7	EFO	disease	Cardiofaciocutaneous syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1340	"Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay." []	6848275	\N	\N	EFO	10	EFO	experimental factor	Cardiofaciocutaneous syndrome
Orphanet:1342	\N	\N	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	73446	\N	\N	EFO	0	EFO	Heart-hand syndrome type 3	Heart-hand syndrome type 3
Orphanet:101934	Orphanet:1342	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	214759	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Heart-hand syndrome type 3
Orphanet:228184	Orphanet:1342	\N	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	214760	\N	\N	EFO	1	EFO	Heart-hand syndrome	Heart-hand syndrome type 3
Orphanet:330206	Orphanet:1342	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	214761	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Heart-hand syndrome type 3
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	568803	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Heart-hand syndrome type 3
Orphanet:404571	Orphanet:228184	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	568804	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Heart-hand syndrome type 3
Orphanet:404577	Orphanet:228184	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	568805	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Heart-hand syndrome type 3
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	568806	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Heart-hand syndrome type 3
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	1150466	\N	\N	EFO	3	EFO	genetic disorder	Heart-hand syndrome type 3
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	1150467	\N	\N	EFO	3	EFO	heart disease	Heart-hand syndrome type 3
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	1150468	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Heart-hand syndrome type 3
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	1150469	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Heart-hand syndrome type 3
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	1150470	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Heart-hand syndrome type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	5059585	\N	\N	EFO	7	EFO	disease	Heart-hand syndrome type 3
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	2032729	\N	\N	EFO	4	EFO	cardiovascular disease	Heart-hand syndrome type 3
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	2032730	\N	\N	EFO	4	EFO	Rare genetic bone disease	Heart-hand syndrome type 3
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	2032731	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Heart-hand syndrome type 3
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	2032732	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Heart-hand syndrome type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	4391191	\N	\N	EFO	6	EFO	genetic disorder	Heart-hand syndrome type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	5817465	\N	\N	EFO	8	EFO	disposition	Heart-hand syndrome type 3
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	3183266	\N	\N	EFO	5	EFO	disease	Heart-hand syndrome type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	3183267	\N	\N	EFO	5	EFO	genetic disorder	Heart-hand syndrome type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	3183268	\N	\N	EFO	5	EFO	bone disease	Heart-hand syndrome type 3
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	3183269	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Heart-hand syndrome type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	6409824	\N	\N	EFO	9	EFO	material property	Heart-hand syndrome type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	4391190	\N	\N	EFO	6	EFO	skeletal system disease	Heart-hand syndrome type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	6807681	\N	\N	EFO	10	EFO	experimental factor	Heart-hand syndrome type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1342	"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." []	5410367	\N	\N	EFO	7	EFO	disease	Heart-hand syndrome type 3
Orphanet:1344	\N	\N	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	73447	\N	\N	EFO	0	EFO	Atrial stand still	Atrial stand still
Orphanet:101934	Orphanet:1344	\N	"" []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	214762	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Atrial stand still
Orphanet:217635	Orphanet:1344	\N	"" []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	214763	\N	\N	EFO	1	EFO	Familial restrictive cardiomyopathy	Atrial stand still
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	568807	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Atrial stand still
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	568808	\N	\N	EFO	2	EFO	cardiomyopathy	Atrial stand still
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	568809	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Atrial stand still
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	1150471	\N	\N	EFO	3	EFO	genetic disorder	Atrial stand still
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	1150472	\N	\N	EFO	3	EFO	heart disease	Atrial stand still
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	1150473	\N	\N	EFO	3	EFO	heart disease	Atrial stand still
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	2032734	\N	\N	EFO	4	EFO	disease	Atrial stand still
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	2032735	\N	\N	EFO	4	EFO	cardiovascular disease	Atrial stand still
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	4391193	\N	\N	EFO	6	EFO	disposition	Atrial stand still
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	3183273	\N	\N	EFO	5	EFO	disease	Atrial stand still
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	5181549	\N	\N	EFO	7	EFO	material property	Atrial stand still
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1344	"Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." []	5996928	\N	\N	EFO	8	EFO	experimental factor	Atrial stand still
Orphanet:1345	\N	\N	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	73448	\N	\N	EFO	0	EFO	Cardiomyopathy - cataract - hip spine disease	Cardiomyopathy - cataract - hip spine disease
Orphanet:217619	Orphanet:1345	\N	"" []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	214764	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	Cardiomyopathy - cataract - hip spine disease
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	568810	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Cardiomyopathy - cataract - hip spine disease
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	1150474	\N	\N	EFO	3	EFO	cardiomyopathy	Cardiomyopathy - cataract - hip spine disease
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	1150475	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Cardiomyopathy - cataract - hip spine disease
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	2032736	\N	\N	EFO	4	EFO	heart disease	Cardiomyopathy - cataract - hip spine disease
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	2032737	\N	\N	EFO	4	EFO	genetic disorder	Cardiomyopathy - cataract - hip spine disease
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	2032738	\N	\N	EFO	4	EFO	heart disease	Cardiomyopathy - cataract - hip spine disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	3183274	\N	\N	EFO	5	EFO	cardiovascular disease	Cardiomyopathy - cataract - hip spine disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	3183275	\N	\N	EFO	5	EFO	disease	Cardiomyopathy - cataract - hip spine disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	4391194	\N	\N	EFO	6	EFO	disease	Cardiomyopathy - cataract - hip spine disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	5410369	\N	\N	EFO	7	EFO	disposition	Cardiomyopathy - cataract - hip spine disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	5996929	\N	\N	EFO	8	EFO	material property	Cardiomyopathy - cataract - hip spine disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1345	"Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." []	6550513	\N	\N	EFO	9	EFO	experimental factor	Cardiomyopathy - cataract - hip spine disease
Orphanet:1349	\N	\N	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	Orphanet:1349	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	73449	\N	\N	EFO	0	EFO	Maternally-inherited cardiomyopathy and hearing loss	Maternally-inherited cardiomyopathy and hearing loss
Orphanet:217587	Orphanet:1349	\N	"" []	Orphanet:1349	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	214765	\N	\N	EFO	1	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	Maternally-inherited cardiomyopathy and hearing loss
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:1349	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	568811	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Maternally-inherited cardiomyopathy and hearing loss
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:1349	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	1150476	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Maternally-inherited cardiomyopathy and hearing loss
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1349	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	2032739	\N	\N	EFO	4	EFO	genetic disorder	Maternally-inherited cardiomyopathy and hearing loss
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1349	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	2032740	\N	\N	EFO	4	EFO	heart disease	Maternally-inherited cardiomyopathy and hearing loss
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1349	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	3183276	\N	\N	EFO	5	EFO	disease	Maternally-inherited cardiomyopathy and hearing loss
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1349	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	3183277	\N	\N	EFO	5	EFO	cardiovascular disease	Maternally-inherited cardiomyopathy and hearing loss
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1349	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	5410372	\N	\N	EFO	7	EFO	disposition	Maternally-inherited cardiomyopathy and hearing loss
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1349	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	4391197	\N	\N	EFO	6	EFO	disease	Maternally-inherited cardiomyopathy and hearing loss
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1349	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	5996930	\N	\N	EFO	8	EFO	material property	Maternally-inherited cardiomyopathy and hearing loss
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1349	"Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." []	6550514	\N	\N	EFO	9	EFO	experimental factor	Maternally-inherited cardiomyopathy and hearing loss
Orphanet:135	\N	\N	"" []	Orphanet:135	"" []	73450	\N	\N	EFO	0	EFO	CACH syndrome	CACH syndrome
Orphanet:68356	Orphanet:135	\N	"" []	Orphanet:135	"" []	214766	\N	\N	EFO	1	EFO	Leukodystrophy	CACH syndrome
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:135	"" []	568812	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	CACH syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:135	"" []	1150477	\N	\N	EFO	3	EFO	genetic disorder	CACH syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:135	"" []	2032741	\N	\N	EFO	4	EFO	disease	CACH syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:135	"" []	3183278	\N	\N	EFO	5	EFO	disposition	CACH syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:135	"" []	4391198	\N	\N	EFO	6	EFO	material property	CACH syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:135	"" []	5410373	\N	\N	EFO	7	EFO	experimental factor	CACH syndrome
Orphanet:1350	\N	\N	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	73451	\N	\N	EFO	0	EFO	Heart-hand syndrome type 2	Heart-hand syndrome type 2
Orphanet:101934	Orphanet:1350	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	214767	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Heart-hand syndrome type 2
Orphanet:228184	Orphanet:1350	\N	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	214768	\N	\N	EFO	1	EFO	Heart-hand syndrome	Heart-hand syndrome type 2
Orphanet:330206	Orphanet:1350	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	214769	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Heart-hand syndrome type 2
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	568813	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Heart-hand syndrome type 2
Orphanet:404571	Orphanet:228184	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	568814	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Heart-hand syndrome type 2
Orphanet:404577	Orphanet:228184	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	568815	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Heart-hand syndrome type 2
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	568816	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Heart-hand syndrome type 2
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	1150478	\N	\N	EFO	3	EFO	genetic disorder	Heart-hand syndrome type 2
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	1150479	\N	\N	EFO	3	EFO	heart disease	Heart-hand syndrome type 2
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	1150480	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Heart-hand syndrome type 2
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	1150481	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Heart-hand syndrome type 2
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	1150482	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Heart-hand syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	5059587	\N	\N	EFO	7	EFO	disease	Heart-hand syndrome type 2
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	2032743	\N	\N	EFO	4	EFO	cardiovascular disease	Heart-hand syndrome type 2
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	2032744	\N	\N	EFO	4	EFO	Rare genetic bone disease	Heart-hand syndrome type 2
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	2032745	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Heart-hand syndrome type 2
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	2032746	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Heart-hand syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	4391201	\N	\N	EFO	6	EFO	genetic disorder	Heart-hand syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	5817466	\N	\N	EFO	8	EFO	disposition	Heart-hand syndrome type 2
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	3183280	\N	\N	EFO	5	EFO	disease	Heart-hand syndrome type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	3183281	\N	\N	EFO	5	EFO	genetic disorder	Heart-hand syndrome type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	3183282	\N	\N	EFO	5	EFO	bone disease	Heart-hand syndrome type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	3183283	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Heart-hand syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	6409825	\N	\N	EFO	9	EFO	material property	Heart-hand syndrome type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	4391200	\N	\N	EFO	6	EFO	skeletal system disease	Heart-hand syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	6807682	\N	\N	EFO	10	EFO	experimental factor	Heart-hand syndrome type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1350	"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." []	5410375	\N	\N	EFO	7	EFO	disease	Heart-hand syndrome type 2
Orphanet:1352	\N	\N	"" []	Orphanet:1352	"" []	73452	\N	\N	EFO	0	EFO	Atrioventricular defect - blepharophimosis -radial defects	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:108987	Orphanet:1352	\N	"" []	Orphanet:1352	"" []	214770	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:156532	Orphanet:1352	\N	"" []	Orphanet:1352	"" []	214771	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:330206	Orphanet:1352	\N	"" []	Orphanet:1352	"" []	214772	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:98578	Orphanet:1352	\N	"" []	Orphanet:1352	"" []	214773	\N	\N	EFO	1	EFO	Ptosis	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1352	"" []	568817	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:1352	"" []	568818	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1352	"" []	568819	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:1352	"" []	568820	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1352	"" []	1150483	\N	\N	EFO	3	EFO	Rare genetic eye disease	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1352	"" []	1150484	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Atrioventricular defect - blepharophimosis -radial defects
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1352	"" []	1150485	\N	\N	EFO	3	EFO	genetic disorder	Atrioventricular defect - blepharophimosis -radial defects
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1352	"" []	1150486	\N	\N	EFO	3	EFO	heart disease	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1352	"" []	1150487	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:1352	"" []	1150488	\N	\N	EFO	3	EFO	Rare palpebral disease	Atrioventricular defect - blepharophimosis -radial defects
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1352	"" []	4391203	\N	\N	EFO	6	EFO	genetic disorder	Atrioventricular defect - blepharophimosis -radial defects
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1352	"" []	4391204	\N	\N	EFO	6	EFO	eye disease	Atrioventricular defect - blepharophimosis -radial defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1352	"" []	2032750	\N	\N	EFO	4	EFO	genetic disorder	Atrioventricular defect - blepharophimosis -radial defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1352	"" []	5059588	\N	\N	EFO	7	EFO	disease	Atrioventricular defect - blepharophimosis -radial defects
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1352	"" []	2032752	\N	\N	EFO	4	EFO	cardiovascular disease	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1352	"" []	2032753	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Atrioventricular defect - blepharophimosis -radial defects
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1352	"" []	5059589	\N	\N	EFO	7	EFO	disease	Atrioventricular defect - blepharophimosis -radial defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1352	"" []	5817467	\N	\N	EFO	8	EFO	disposition	Atrioventricular defect - blepharophimosis -radial defects
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1352	"" []	3183289	\N	\N	EFO	5	EFO	disease	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1352	"" []	3183290	\N	\N	EFO	5	EFO	Rare genetic eye disease	Atrioventricular defect - blepharophimosis -radial defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1352	"" []	6409826	\N	\N	EFO	9	EFO	material property	Atrioventricular defect - blepharophimosis -radial defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1352	"" []	6807683	\N	\N	EFO	10	EFO	experimental factor	Atrioventricular defect - blepharophimosis -radial defects
Orphanet:1354	\N	\N	"" []	Orphanet:1354	"" []	73453	\N	\N	EFO	0	EFO	Heart defects - limb shortening	Heart defects - limb shortening
Orphanet:330206	Orphanet:1354	\N	"" []	Orphanet:1354	"" []	214774	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Heart defects - limb shortening
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1354	"" []	568821	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Heart defects - limb shortening
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1354	"" []	1150489	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Heart defects - limb shortening
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1354	"" []	2032754	\N	\N	EFO	4	EFO	genetic disorder	Heart defects - limb shortening
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1354	"" []	3183291	\N	\N	EFO	5	EFO	disease	Heart defects - limb shortening
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1354	"" []	4391205	\N	\N	EFO	6	EFO	disposition	Heart defects - limb shortening
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1354	"" []	5410377	\N	\N	EFO	7	EFO	material property	Heart defects - limb shortening
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1354	"" []	6148098	\N	\N	EFO	8	EFO	experimental factor	Heart defects - limb shortening
Orphanet:1355	\N	\N	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	73454	\N	\N	EFO	0	EFO	Heart defect - round face - congenital developmental delay	Heart defect - round face - congenital developmental delay
Orphanet:102283	Orphanet:1355	\N	"" []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	214775	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Heart defect - round face - congenital developmental delay
Orphanet:183763	Orphanet:1355	\N	"" []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	214776	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Heart defect - round face - congenital developmental delay
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	568822	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Heart defect - round face - congenital developmental delay
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	568823	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Heart defect - round face - congenital developmental delay
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	1150490	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Heart defect - round face - congenital developmental delay
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	1150491	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Heart defect - round face - congenital developmental delay
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	2032755	\N	\N	EFO	4	EFO	genetic disorder	Heart defect - round face - congenital developmental delay
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	2032756	\N	\N	EFO	4	EFO	genetic disorder	Heart defect - round face - congenital developmental delay
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	3183292	\N	\N	EFO	5	EFO	disease	Heart defect - round face - congenital developmental delay
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	4391206	\N	\N	EFO	6	EFO	disposition	Heart defect - round face - congenital developmental delay
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	5410378	\N	\N	EFO	7	EFO	material property	Heart defect - round face - congenital developmental delay
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1355	"Heart defect ? round face ? congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." []	6148099	\N	\N	EFO	8	EFO	experimental factor	Heart defect - round face - congenital developmental delay
Orphanet:1358	\N	\N	"" []	Orphanet:1358	"" []	73455	\N	\N	EFO	0	EFO	Carey-Fineman-Ziter  syndrome	Carey-Fineman-Ziter  syndrome
Orphanet:139039	Orphanet:1358	\N	"" []	Orphanet:1358	"" []	214777	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Carey-Fineman-Ziter  syndrome
Orphanet:330197	Orphanet:1358	\N	"" []	Orphanet:1358	"" []	214778	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Carey-Fineman-Ziter  syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1358	"" []	568824	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Carey-Fineman-Ziter  syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1358	"" []	568825	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Carey-Fineman-Ziter  syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1358	"" []	1150492	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Carey-Fineman-Ziter  syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1358	"" []	1150493	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Carey-Fineman-Ziter  syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1358	"" []	2032757	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Carey-Fineman-Ziter  syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1358	"" []	4391207	\N	\N	EFO	6	EFO	genetic disorder	Carey-Fineman-Ziter  syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1358	"" []	3183293	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Carey-Fineman-Ziter  syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1358	"" []	5059590	\N	\N	EFO	7	EFO	disease	Carey-Fineman-Ziter  syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1358	"" []	5876751	\N	\N	EFO	8	EFO	disposition	Carey-Fineman-Ziter  syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1358	"" []	6469963	\N	\N	EFO	9	EFO	material property	Carey-Fineman-Ziter  syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1358	"" []	6848276	\N	\N	EFO	10	EFO	experimental factor	Carey-Fineman-Ziter  syndrome
Orphanet:1359	\N	\N	"" []	Orphanet:1359	"" []	73456	\N	\N	EFO	0	EFO	Carney complex	Carney complex
EFO:0004198	Orphanet:1359	\N	"Tumors or cancer of the SKIN." []	Orphanet:1359	"" []	214779	\N	\N	EFO	1	EFO	skin neoplasm	Carney complex
Orphanet:100094	Orphanet:1359	\N	"" []	Orphanet:1359	"" []	214780	\N	\N	EFO	1	EFO	Multiple polyglandular tumor	Carney complex
Orphanet:183466	Orphanet:1359	\N	"" []	Orphanet:1359	"" []	214781	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Carney complex
Orphanet:271841	Orphanet:1359	\N	"" []	Orphanet:1359	"" []	214782	\N	\N	EFO	1	EFO	Genetic cardiac tumor	Carney complex
Orphanet:98587	Orphanet:1359	\N	"" []	Orphanet:1359	"" []	214783	\N	\N	EFO	1	EFO	Palpebral lentiginosis	Carney complex
Orphanet:98591	Orphanet:1359	\N	"" []	Orphanet:1359	"" []	214784	\N	\N	EFO	1	EFO	Mesenchymatous palpebral tumor	Carney complex
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:1359	"" []	568826	\N	\N	EFO	2	EFO	neoplasm	Carney complex
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1359	"" []	568827	\N	\N	EFO	2	EFO	skin disease	Carney complex
Orphanet:183643	Orphanet:100094	\N	"" []	Orphanet:1359	"" []	568828	\N	\N	EFO	2	EFO	Genetic polyendocrinopathy	Carney complex
Orphanet:271847	Orphanet:100094	\N	"" []	Orphanet:1359	"" []	568829	\N	\N	EFO	2	EFO	Genetic endocrine tumor	Carney complex
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:1359	"" []	568830	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Carney complex
EFO:0003777	Orphanet:271841	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1359	"" []	568831	\N	\N	EFO	2	EFO	heart disease	Carney complex
Orphanet:68336	Orphanet:271841	\N	"" []	Orphanet:1359	"" []	568832	\N	\N	EFO	2	EFO	Rare genetic tumor	Carney complex
Orphanet:98586	Orphanet:98587	\N	"" []	Orphanet:1359	"" []	568833	\N	\N	EFO	2	EFO	Pigmented palpebral tumor	Carney complex
Orphanet:98580	Orphanet:98591	\N	"" []	Orphanet:1359	"" []	568834	\N	\N	EFO	2	EFO	Palpebral tumor	Carney complex
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1359	"" []	3000123	\N	\N	EFO	5	EFO	disease	Carney complex
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1359	"" []	3183297	\N	\N	EFO	5	EFO	disease	Carney complex
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:1359	"" []	1150496	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Carney complex
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:1359	"" []	1150497	\N	\N	EFO	3	EFO	endocrine neoplasm	Carney complex
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:1359	"" []	1150498	\N	\N	EFO	3	EFO	Rare genetic tumor	Carney complex
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:1359	"" []	1150499	\N	\N	EFO	3	EFO	Rare genetic skin disease	Carney complex
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1359	"" []	1150500	\N	\N	EFO	3	EFO	cardiovascular disease	Carney complex
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1359	"" []	2032764	\N	\N	EFO	4	EFO	genetic disorder	Carney complex
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:1359	"" []	2032765	\N	\N	EFO	4	EFO	neoplasm	Carney complex
Orphanet:98580	Orphanet:98586	\N	"" []	Orphanet:1359	"" []	1150503	\N	\N	EFO	3	EFO	Palpebral tumor	Carney complex
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:1359	"" []	2032771	\N	\N	EFO	4	EFO	Rare palpebral disease	Carney complex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1359	"" []	6378808	\N	\N	EFO	9	EFO	disposition	Carney complex
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1359	"" []	2032760	\N	\N	EFO	4	EFO	genetic disorder	Carney complex
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1359	"" []	2032761	\N	\N	EFO	4	EFO	endocrine system disease	Carney complex
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:1359	"" []	2032762	\N	\N	EFO	4	EFO	neoplasm	Carney complex
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1359	"" []	2032763	\N	\N	EFO	4	EFO	endocrine system disease	Carney complex
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1359	"" []	2032766	\N	\N	EFO	4	EFO	genetic disorder	Carney complex
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1359	"" []	2032767	\N	\N	EFO	4	EFO	skin disease	Carney complex
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1359	"" []	2032768	\N	\N	EFO	4	EFO	disease	Carney complex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1359	"" []	5996933	\N	\N	EFO	8	EFO	disease	Carney complex
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1359	"" []	3000124	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Carney complex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1359	"" []	6762361	\N	\N	EFO	10	EFO	material property	Carney complex
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1359	"" []	3183296	\N	\N	EFO	5	EFO	disease	Carney complex
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1359	"" []	4133258	\N	\N	EFO	6	EFO	Rare genetic eye disease	Carney complex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1359	"" []	7015665	\N	\N	EFO	11	EFO	experimental factor	Carney complex
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1359	"" []	5181553	\N	\N	EFO	7	EFO	genetic disorder	Carney complex
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1359	"" []	5181554	\N	\N	EFO	7	EFO	eye disease	Carney complex
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1359	"" []	5996934	\N	\N	EFO	8	EFO	disease	Carney complex
Orphanet:136	\N	\N	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	73457	\N	\N	EFO	0	EFO	CADASIL	CADASIL
Orphanet:183503	Orphanet:136	\N	"" []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	214785	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	CADASIL
Orphanet:371439	Orphanet:136	\N	"" []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	214786	\N	\N	EFO	1	EFO	Genetic cerebrovascular dementia	CADASIL
Orphanet:98692	Orphanet:136	\N	"" []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	214787	\N	\N	EFO	1	EFO	Nervous system anomaly with eye involvement	CADASIL
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	568835	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	CADASIL
EFO:0003763	Orphanet:371439	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	568836	\N	\N	EFO	2	EFO	cerebrovascular disorder	CADASIL
Orphanet:158124	Orphanet:371439	\N	"" []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	568837	\N	\N	EFO	2	EFO	Genetic dementia	CADASIL
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	568838	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	CADASIL
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	2032776	\N	\N	EFO	4	EFO	genetic disorder	CADASIL
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	1150506	\N	\N	EFO	3	EFO	vascular disease	CADASIL
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	1150507	\N	\N	EFO	3	EFO	brain disease	CADASIL
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	1150508	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	CADASIL
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	1150509	\N	\N	EFO	3	EFO	Rare genetic eye disease	CADASIL
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	3000125	\N	\N	EFO	5	EFO	disease	CADASIL
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	2032774	\N	\N	EFO	4	EFO	cardiovascular disease	CADASIL
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	2032775	\N	\N	EFO	4	EFO	nervous system disease	CADASIL
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	2032777	\N	\N	EFO	4	EFO	genetic disorder	CADASIL
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	2032778	\N	\N	EFO	4	EFO	eye disease	CADASIL
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	4133259	\N	\N	EFO	6	EFO	disposition	CADASIL
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	3183300	\N	\N	EFO	5	EFO	disease	CADASIL
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	3183301	\N	\N	EFO	5	EFO	disease	CADASIL
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	3183302	\N	\N	EFO	5	EFO	disease	CADASIL
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	5181555	\N	\N	EFO	7	EFO	material property	CADASIL
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:136	"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." []	5996935	\N	\N	EFO	8	EFO	experimental factor	CADASIL
Orphanet:1361	\N	\N	"" []	Orphanet:1361	"" []	73458	\N	\N	EFO	0	EFO	Carnosinemia	Carnosinemia
Orphanet:79187	Orphanet:1361	\N	"" []	Orphanet:1361	"" []	214788	\N	\N	EFO	1	EFO	Disorder of peptide metabolism	Carnosinemia
Orphanet:79062	Orphanet:79187	\N	"" []	Orphanet:1361	"" []	568839	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Carnosinemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:1361	"" []	1150510	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Carnosinemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1361	"" []	2032779	\N	\N	EFO	4	EFO	genetic disorder	Carnosinemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1361	"" []	2032780	\N	\N	EFO	4	EFO	metabolic disease	Carnosinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1361	"" []	3183303	\N	\N	EFO	5	EFO	disease	Carnosinemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1361	"" []	3183304	\N	\N	EFO	5	EFO	disease	Carnosinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1361	"" []	4391213	\N	\N	EFO	6	EFO	disposition	Carnosinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1361	"" []	5410383	\N	\N	EFO	7	EFO	material property	Carnosinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1361	"" []	6148101	\N	\N	EFO	8	EFO	experimental factor	Carnosinemia
Orphanet:1366	\N	\N	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	73459	\N	\N	EFO	0	EFO	Autosomal recessive palmoplantar keratoderma and congenital alopecia	Autosomal recessive palmoplantar keratoderma and congenital alopecia
Orphanet:307804	Orphanet:1366	\N	"" []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	214789	\N	\N	EFO	1	EFO	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Autosomal recessive palmoplantar keratoderma and congenital alopecia
Orphanet:79373	Orphanet:1366	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	214790	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Autosomal recessive palmoplantar keratoderma and congenital alopecia
Orphanet:307711	Orphanet:307804	\N	"" []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	568840	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Autosomal recessive palmoplantar keratoderma and congenital alopecia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	568841	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Autosomal recessive palmoplantar keratoderma and congenital alopecia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	568842	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Autosomal recessive palmoplantar keratoderma and congenital alopecia
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	1150511	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Autosomal recessive palmoplantar keratoderma and congenital alopecia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	1150512	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive palmoplantar keratoderma and congenital alopecia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	1150513	\N	\N	EFO	3	EFO	Rare genetic skin disease	Autosomal recessive palmoplantar keratoderma and congenital alopecia
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	2032781	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Autosomal recessive palmoplantar keratoderma and congenital alopecia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	2032782	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive palmoplantar keratoderma and congenital alopecia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	5410384	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive palmoplantar keratoderma and congenital alopecia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	5410385	\N	\N	EFO	7	EFO	skin disease	Autosomal recessive palmoplantar keratoderma and congenital alopecia
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	3183305	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Autosomal recessive palmoplantar keratoderma and congenital alopecia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	5817469	\N	\N	EFO	8	EFO	disease	Autosomal recessive palmoplantar keratoderma and congenital alopecia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	5817470	\N	\N	EFO	8	EFO	disease	Autosomal recessive palmoplantar keratoderma and congenital alopecia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	4391214	\N	\N	EFO	6	EFO	Rare genetic skin disease	Autosomal recessive palmoplantar keratoderma and congenital alopecia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	6409827	\N	\N	EFO	9	EFO	disposition	Autosomal recessive palmoplantar keratoderma and congenital alopecia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	6807684	\N	\N	EFO	10	EFO	material property	Autosomal recessive palmoplantar keratoderma and congenital alopecia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1366	"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." []	7048540	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive palmoplantar keratoderma and congenital alopecia
Orphanet:1368	\N	\N	"" []	Orphanet:1368	"" []	73460	\N	\N	EFO	0	EFO	Cataract - ataxia - deafness	Cataract - ataxia - deafness
Orphanet:183518	Orphanet:1368	\N	"" []	Orphanet:1368	"" []	214791	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Cataract - ataxia - deafness
Orphanet:90642	Orphanet:1368	\N	"" []	Orphanet:1368	"" []	214792	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Cataract - ataxia - deafness
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1368	"" []	568843	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Cataract - ataxia - deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1368	"" []	568844	\N	\N	EFO	2	EFO	Rare genetic deafness	Cataract - ataxia - deafness
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1368	"" []	1150514	\N	\N	EFO	3	EFO	genetic disorder	Cataract - ataxia - deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1368	"" []	1150515	\N	\N	EFO	3	EFO	genetic disorder	Cataract - ataxia - deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1368	"" []	1150516	\N	\N	EFO	3	EFO	auditory system disease	Cataract - ataxia - deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1368	"" []	2032785	\N	\N	EFO	4	EFO	disease	Cataract - ataxia - deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1368	"" []	2032786	\N	\N	EFO	4	EFO	sensory system disease	Cataract - ataxia - deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1368	"" []	5410388	\N	\N	EFO	7	EFO	disposition	Cataract - ataxia - deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1368	"" []	3183309	\N	\N	EFO	5	EFO	nervous system disease	Cataract - ataxia - deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1368	"" []	5876753	\N	\N	EFO	8	EFO	material property	Cataract - ataxia - deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1368	"" []	4391217	\N	\N	EFO	6	EFO	disease	Cataract - ataxia - deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1368	"" []	6469964	\N	\N	EFO	9	EFO	experimental factor	Cataract - ataxia - deafness
Orphanet:1369	\N	\N	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	73461	\N	\N	EFO	0	EFO	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:217587	Orphanet:1369	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	214793	\N	\N	EFO	1	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:254830	Orphanet:1369	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	214794	\N	\N	EFO	1	EFO	Mitochondrial substrate carrier disorder	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:352312	Orphanet:1369	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	214795	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:98647	Orphanet:1369	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	214796	\N	\N	EFO	1	EFO	Cardiac disease with cataract	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	568845	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:254827	Orphanet:254830	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	568846	\N	\N	EFO	2	EFO	Mitochondrial membrane transport disorder	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:352301	Orphanet:352312	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	568847	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:98643	Orphanet:98647	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	568848	\N	\N	EFO	2	EFO	Systemic disease with cataract	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	1150517	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:68380	Orphanet:254827	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	1150518	\N	\N	EFO	3	EFO	Mitochondrial disease	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	1150519	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	1150520	\N	\N	EFO	3	EFO	Syndromic cataract	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	2032787	\N	\N	EFO	4	EFO	genetic disorder	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	2032788	\N	\N	EFO	4	EFO	heart disease	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	2032789	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	2032790	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	2032791	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	2032792	\N	\N	EFO	4	EFO	Rare cataract	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	6148104	\N	\N	EFO	8	EFO	disease	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	3183311	\N	\N	EFO	5	EFO	cardiovascular disease	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	3183312	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	3183313	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	4391221	\N	\N	EFO	6	EFO	genetic disorder	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	4391222	\N	\N	EFO	6	EFO	metabolic disease	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	3183316	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	6409828	\N	\N	EFO	9	EFO	disposition	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	4391219	\N	\N	EFO	6	EFO	disease	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	4391220	\N	\N	EFO	6	EFO	genetic disorder	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	5181558	\N	\N	EFO	7	EFO	disease	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	4391225	\N	\N	EFO	6	EFO	Rare genetic eye disease	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	6807685	\N	\N	EFO	10	EFO	material property	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	5410390	\N	\N	EFO	7	EFO	genetic disorder	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	5410391	\N	\N	EFO	7	EFO	eye disease	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	7048541	\N	\N	EFO	11	EFO	experimental factor	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1369	"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." []	6148105	\N	\N	EFO	8	EFO	disease	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Orphanet:137	\N	\N	"" []	Orphanet:137	"" []	73462	\N	\N	EFO	0	EFO	Congenital disorder of glycosylation	Congenital disorder of glycosylation
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:137	"" []	214797	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Congenital disorder of glycosylation
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137	"" []	568849	\N	\N	EFO	2	EFO	genetic disorder	Congenital disorder of glycosylation
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:137	"" []	568850	\N	\N	EFO	2	EFO	metabolic disease	Congenital disorder of glycosylation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137	"" []	1150521	\N	\N	EFO	3	EFO	disease	Congenital disorder of glycosylation
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137	"" []	1150522	\N	\N	EFO	3	EFO	disease	Congenital disorder of glycosylation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137	"" []	2032793	\N	\N	EFO	4	EFO	disposition	Congenital disorder of glycosylation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137	"" []	3183317	\N	\N	EFO	5	EFO	material property	Congenital disorder of glycosylation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137	"" []	4391226	\N	\N	EFO	6	EFO	experimental factor	Congenital disorder of glycosylation
Orphanet:1373	\N	\N	"" []	Orphanet:1373	"" []	73463	\N	\N	EFO	0	EFO	Cataract - aberrant oral frenula - growth delay	Cataract - aberrant oral frenula - growth delay
Orphanet:108987	Orphanet:1373	\N	"" []	Orphanet:1373	"" []	214798	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Cataract - aberrant oral frenula - growth delay
Orphanet:330206	Orphanet:1373	\N	"" []	Orphanet:1373	"" []	214799	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Cataract - aberrant oral frenula - growth delay
Orphanet:98641	Orphanet:1373	\N	"" []	Orphanet:1373	"" []	214800	\N	\N	EFO	1	EFO	Syndromic cataract	Cataract - aberrant oral frenula - growth delay
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1373	"" []	568851	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Cataract - aberrant oral frenula - growth delay
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1373	"" []	568852	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cataract - aberrant oral frenula - growth delay
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1373	"" []	568853	\N	\N	EFO	2	EFO	Rare cataract	Cataract - aberrant oral frenula - growth delay
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1373	"" []	1150523	\N	\N	EFO	3	EFO	Rare genetic eye disease	Cataract - aberrant oral frenula - growth delay
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1373	"" []	1150524	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract - aberrant oral frenula - growth delay
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1373	"" []	1150525	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract - aberrant oral frenula - growth delay
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1373	"" []	1150526	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Cataract - aberrant oral frenula - growth delay
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1373	"" []	3183320	\N	\N	EFO	5	EFO	genetic disorder	Cataract - aberrant oral frenula - growth delay
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1373	"" []	3183321	\N	\N	EFO	5	EFO	eye disease	Cataract - aberrant oral frenula - growth delay
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1373	"" []	2032796	\N	\N	EFO	4	EFO	genetic disorder	Cataract - aberrant oral frenula - growth delay
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1373	"" []	2032797	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cataract - aberrant oral frenula - growth delay
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1373	"" []	4133260	\N	\N	EFO	6	EFO	disease	Cataract - aberrant oral frenula - growth delay
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1373	"" []	4133261	\N	\N	EFO	6	EFO	disease	Cataract - aberrant oral frenula - growth delay
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1373	"" []	5181559	\N	\N	EFO	7	EFO	disposition	Cataract - aberrant oral frenula - growth delay
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1373	"" []	5996937	\N	\N	EFO	8	EFO	material property	Cataract - aberrant oral frenula - growth delay
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1373	"" []	6550516	\N	\N	EFO	9	EFO	experimental factor	Cataract - aberrant oral frenula - growth delay
Orphanet:1375	\N	\N	"" []	Orphanet:1375	"" []	73464	\N	\N	EFO	0	EFO	Cataract - hypertrichosis - intellectual disability	Cataract - hypertrichosis - intellectual disability
Orphanet:108987	Orphanet:1375	\N	"" []	Orphanet:1375	"" []	214801	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Cataract - hypertrichosis - intellectual disability
Orphanet:183763	Orphanet:1375	\N	"" []	Orphanet:1375	"" []	214802	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cataract - hypertrichosis - intellectual disability
Orphanet:79365	Orphanet:1375	\N	"" []	Orphanet:1375	"" []	214803	\N	\N	EFO	1	EFO	Hypertrichosis	Cataract - hypertrichosis - intellectual disability
Orphanet:79373	Orphanet:1375	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1375	"" []	214804	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Cataract - hypertrichosis - intellectual disability
Orphanet:98641	Orphanet:1375	\N	"" []	Orphanet:1375	"" []	214805	\N	\N	EFO	1	EFO	Syndromic cataract	Cataract - hypertrichosis - intellectual disability
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1375	"" []	568854	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Cataract - hypertrichosis - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1375	"" []	568855	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cataract - hypertrichosis - intellectual disability
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:1375	"" []	568856	\N	\N	EFO	2	EFO	Genetic hair anomaly	Cataract - hypertrichosis - intellectual disability
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1375	"" []	568857	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Cataract - hypertrichosis - intellectual disability
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1375	"" []	568858	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Cataract - hypertrichosis - intellectual disability
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1375	"" []	568859	\N	\N	EFO	2	EFO	Rare cataract	Cataract - hypertrichosis - intellectual disability
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1375	"" []	1150527	\N	\N	EFO	3	EFO	Rare genetic eye disease	Cataract - hypertrichosis - intellectual disability
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1375	"" []	1150528	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract - hypertrichosis - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1375	"" []	1150529	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cataract - hypertrichosis - intellectual disability
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:1375	"" []	1150530	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Cataract - hypertrichosis - intellectual disability
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1375	"" []	1150531	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract - hypertrichosis - intellectual disability
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1375	"" []	2032802	\N	\N	EFO	4	EFO	Rare genetic skin disease	Cataract - hypertrichosis - intellectual disability
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1375	"" []	1150533	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Cataract - hypertrichosis - intellectual disability
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1375	"" []	3183325	\N	\N	EFO	5	EFO	genetic disorder	Cataract - hypertrichosis - intellectual disability
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1375	"" []	3183326	\N	\N	EFO	5	EFO	eye disease	Cataract - hypertrichosis - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1375	"" []	2032800	\N	\N	EFO	4	EFO	genetic disorder	Cataract - hypertrichosis - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1375	"" []	2032801	\N	\N	EFO	4	EFO	genetic disorder	Cataract - hypertrichosis - intellectual disability
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1375	"" []	3000126	\N	\N	EFO	5	EFO	genetic disorder	Cataract - hypertrichosis - intellectual disability
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1375	"" []	3000127	\N	\N	EFO	5	EFO	skin disease	Cataract - hypertrichosis - intellectual disability
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1375	"" []	2032805	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cataract - hypertrichosis - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1375	"" []	4133262	\N	\N	EFO	6	EFO	disease	Cataract - hypertrichosis - intellectual disability
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1375	"" []	4133263	\N	\N	EFO	6	EFO	disease	Cataract - hypertrichosis - intellectual disability
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1375	"" []	4133264	\N	\N	EFO	6	EFO	disease	Cataract - hypertrichosis - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1375	"" []	5181560	\N	\N	EFO	7	EFO	disposition	Cataract - hypertrichosis - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1375	"" []	5996938	\N	\N	EFO	8	EFO	material property	Cataract - hypertrichosis - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1375	"" []	6550517	\N	\N	EFO	9	EFO	experimental factor	Cataract - hypertrichosis - intellectual disability
Orphanet:1376	\N	\N	"" []	Orphanet:1376	"" []	73465	\N	\N	EFO	0	EFO	Congenital cataract - ichthyosis	Congenital cataract - ichthyosis
Orphanet:108987	Orphanet:1376	\N	"" []	Orphanet:1376	"" []	214806	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Congenital cataract - ichthyosis
Orphanet:281244	Orphanet:1376	\N	"" []	Orphanet:1376	"" []	214807	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	Congenital cataract - ichthyosis
Orphanet:98649	Orphanet:1376	\N	"" []	Orphanet:1376	"" []	214808	\N	\N	EFO	1	EFO	Dentocutaneous disease with cataract	Congenital cataract - ichthyosis
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1376	"" []	568860	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Congenital cataract - ichthyosis
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:1376	"" []	568861	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Congenital cataract - ichthyosis
Orphanet:98643	Orphanet:98649	\N	"" []	Orphanet:1376	"" []	568862	\N	\N	EFO	2	EFO	Systemic disease with cataract	Congenital cataract - ichthyosis
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1376	"" []	1150534	\N	\N	EFO	3	EFO	Rare genetic eye disease	Congenital cataract - ichthyosis
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1376	"" []	1150535	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital cataract - ichthyosis
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:1376	"" []	1150536	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Congenital cataract - ichthyosis
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:1376	"" []	1150537	\N	\N	EFO	3	EFO	Syndromic cataract	Congenital cataract - ichthyosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1376	"" []	5410397	\N	\N	EFO	7	EFO	genetic disorder	Congenital cataract - ichthyosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1376	"" []	5410398	\N	\N	EFO	7	EFO	eye disease	Congenital cataract - ichthyosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1376	"" []	2032808	\N	\N	EFO	4	EFO	genetic disorder	Congenital cataract - ichthyosis
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:1376	"" []	2032809	\N	\N	EFO	4	EFO	Inherited ichthyosis	Congenital cataract - ichthyosis
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1376	"" []	2032810	\N	\N	EFO	4	EFO	Rare cataract	Congenital cataract - ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1376	"" []	5817471	\N	\N	EFO	8	EFO	disease	Congenital cataract - ichthyosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1376	"" []	5817472	\N	\N	EFO	8	EFO	disease	Congenital cataract - ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:1376	"" []	3183329	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Congenital cataract - ichthyosis
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1376	"" []	3183330	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Congenital cataract - ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1376	"" []	6409829	\N	\N	EFO	9	EFO	disposition	Congenital cataract - ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:1376	"" []	4391230	\N	\N	EFO	6	EFO	Rare genetic skin disease	Congenital cataract - ichthyosis
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1376	"" []	4391231	\N	\N	EFO	6	EFO	Rare genetic eye disease	Congenital cataract - ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1376	"" []	6807686	\N	\N	EFO	10	EFO	material property	Congenital cataract - ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1376	"" []	5410395	\N	\N	EFO	7	EFO	genetic disorder	Congenital cataract - ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1376	"" []	5410396	\N	\N	EFO	7	EFO	skin disease	Congenital cataract - ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1376	"" []	7048542	\N	\N	EFO	11	EFO	experimental factor	Congenital cataract - ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1376	"" []	6148109	\N	\N	EFO	8	EFO	disease	Congenital cataract - ichthyosis
Orphanet:137605	\N	\N	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	73466	\N	\N	EFO	0	EFO	Legius syndrome	Legius syndrome
Orphanet:183466	Orphanet:137605	\N	"" []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	214809	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Legius syndrome
Orphanet:98196	Orphanet:137605	\N	"" []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	214810	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Legius syndrome
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	568863	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Legius syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	568864	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Legius syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	1150538	\N	\N	EFO	3	EFO	Rare genetic skin disease	Legius syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	1150539	\N	\N	EFO	3	EFO	genetic disorder	Legius syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	2032811	\N	\N	EFO	4	EFO	genetic disorder	Legius syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	2032812	\N	\N	EFO	4	EFO	skin disease	Legius syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	3183331	\N	\N	EFO	5	EFO	disease	Legius syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	3183332	\N	\N	EFO	5	EFO	disease	Legius syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	4133265	\N	\N	EFO	6	EFO	disposition	Legius syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	5181561	\N	\N	EFO	7	EFO	material property	Legius syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137605	"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple caf-au-lait macules with or without axillary or inguinal freckling." []	5996939	\N	\N	EFO	8	EFO	experimental factor	Legius syndrome
Orphanet:137608	\N	\N	"" []	Orphanet:137608	"" []	73467	\N	\N	EFO	0	EFO	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:183487	Orphanet:137608	\N	"" []	Orphanet:137608	"" []	214811	\N	\N	EFO	1	EFO	Genetic skin tumor	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:211240	Orphanet:137608	\N	"" []	Orphanet:137608	"" []	214812	\N	\N	EFO	1	EFO	Genetic vascular anomaly	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:306498	Orphanet:137608	\N	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	Orphanet:137608	"" []	214813	\N	\N	EFO	1	EFO	PTEN hamartoma tumor syndrome	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:93460	Orphanet:137608	\N	"" []	Orphanet:137608	"" []	214814	\N	\N	EFO	1	EFO	Overgrowth syndrome	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:137608	"" []	568865	\N	\N	EFO	2	EFO	skin neoplasm	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:137608	"" []	568866	\N	\N	EFO	2	EFO	Rare genetic tumor	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:137608	"" []	568867	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:183422	Orphanet:306498	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:137608	"" []	568868	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:98196	Orphanet:306498	\N	"" []	Orphanet:137608	"" []	568869	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:137608	"" []	568870	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:137608	"" []	1150540	\N	\N	EFO	3	EFO	neoplasm	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:137608	"" []	1150541	\N	\N	EFO	3	EFO	skin disease	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137608	"" []	1150542	\N	\N	EFO	3	EFO	genetic disorder	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:137608	"" []	1150543	\N	\N	EFO	3	EFO	neoplasm	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137608	"" []	2032818	\N	\N	EFO	4	EFO	genetic disorder	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:137608	"" []	1150545	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:137608	"" []	1150546	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:137608	"" []	1150547	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137608	"" []	2032814	\N	\N	EFO	4	EFO	disease	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137608	"" []	2032815	\N	\N	EFO	4	EFO	disease	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137608	"" []	3000128	\N	\N	EFO	5	EFO	disease	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137608	"" []	2032817	\N	\N	EFO	4	EFO	genetic disorder	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137608	"" []	4133266	\N	\N	EFO	6	EFO	disposition	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137608	"" []	5181562	\N	\N	EFO	7	EFO	material property	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137608	"" []	5996940	\N	\N	EFO	8	EFO	experimental factor	Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Orphanet:137622	\N	\N	"" []	Orphanet:137622	"" []	73468	\N	\N	EFO	0	EFO	Intractable diarrhea - choanal atresia - eye anomalies	Intractable diarrhea - choanal atresia - eye anomalies
Orphanet:363300	Orphanet:137622	\N	"" []	Orphanet:137622	"" []	214815	\N	\N	EFO	1	EFO	Genetic intractable diarrhea of infancy	Intractable diarrhea - choanal atresia - eye anomalies
Orphanet:165655	Orphanet:363300	\N	"" []	Orphanet:137622	"" []	568871	\N	\N	EFO	2	EFO	Genetic intestinal disease	Intractable diarrhea - choanal atresia - eye anomalies
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:137622	"" []	1150548	\N	\N	EFO	3	EFO	digestive system disease	Intractable diarrhea - choanal atresia - eye anomalies
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:137622	"" []	1150549	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Intractable diarrhea - choanal atresia - eye anomalies
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137622	"" []	2032819	\N	\N	EFO	4	EFO	disease	Intractable diarrhea - choanal atresia - eye anomalies
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137622	"" []	2032820	\N	\N	EFO	4	EFO	genetic disorder	Intractable diarrhea - choanal atresia - eye anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137622	"" []	4391235	\N	\N	EFO	6	EFO	disposition	Intractable diarrhea - choanal atresia - eye anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137622	"" []	3183336	\N	\N	EFO	5	EFO	disease	Intractable diarrhea - choanal atresia - eye anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137622	"" []	5181563	\N	\N	EFO	7	EFO	material property	Intractable diarrhea - choanal atresia - eye anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137622	"" []	5996941	\N	\N	EFO	8	EFO	experimental factor	Intractable diarrhea - choanal atresia - eye anomalies
Orphanet:137625	\N	\N	"" []	Orphanet:137625	"" []	73469	\N	\N	EFO	0	EFO	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Orphanet:217572	Orphanet:137625	\N	"" []	Orphanet:137625	"" []	214816	\N	\N	EFO	1	EFO	Glycogen storage disease with hypertrophic cardiomyopathy	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Orphanet:308520	Orphanet:137625	\N	"" []	Orphanet:137625	"" []	214817	\N	\N	EFO	1	EFO	Glycogen storage disease due to glycogen synthase deficiency	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Orphanet:99739	Orphanet:217572	\N	"" []	Orphanet:137625	"" []	568872	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Orphanet:79201	Orphanet:308520	\N	"" []	Orphanet:137625	"" []	568873	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:137625	"" []	1150550	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:137625	"" []	1150551	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137625	"" []	2032821	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:137625	"" []	2032822	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:137625	"" []	2032823	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137625	"" []	4391238	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:137625	"" []	3183338	\N	\N	EFO	5	EFO	cardiovascular disease	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137625	"" []	3183339	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:137625	"" []	3183340	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137625	"" []	5181564	\N	\N	EFO	7	EFO	disposition	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137625	"" []	4391237	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137625	"" []	4391239	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137625	"" []	5996942	\N	\N	EFO	8	EFO	material property	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137625	"" []	6550518	\N	\N	EFO	9	EFO	experimental factor	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Orphanet:137628	\N	\N	"" []	Orphanet:137628	"" []	73470	\N	\N	EFO	0	EFO	Cardiac anomalies - heterotaxy	Cardiac anomalies - heterotaxy
Orphanet:156532	Orphanet:137628	\N	"" []	Orphanet:137628	"" []	214818	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Cardiac anomalies - heterotaxy
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:137628	"" []	568874	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Cardiac anomalies - heterotaxy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137628	"" []	1150552	\N	\N	EFO	3	EFO	genetic disorder	Cardiac anomalies - heterotaxy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:137628	"" []	1150553	\N	\N	EFO	3	EFO	heart disease	Cardiac anomalies - heterotaxy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137628	"" []	2032824	\N	\N	EFO	4	EFO	disease	Cardiac anomalies - heterotaxy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:137628	"" []	2032825	\N	\N	EFO	4	EFO	cardiovascular disease	Cardiac anomalies - heterotaxy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137628	"" []	4391241	\N	\N	EFO	6	EFO	disposition	Cardiac anomalies - heterotaxy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137628	"" []	3183342	\N	\N	EFO	5	EFO	disease	Cardiac anomalies - heterotaxy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137628	"" []	5181565	\N	\N	EFO	7	EFO	material property	Cardiac anomalies - heterotaxy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137628	"" []	5996943	\N	\N	EFO	8	EFO	experimental factor	Cardiac anomalies - heterotaxy
Orphanet:137631	\N	\N	"" []	Orphanet:137631	"" []	73471	\N	\N	EFO	0	EFO	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:183710	Orphanet:137631	\N	"" []	Orphanet:137631	"" []	214819	\N	\N	EFO	1	EFO	Genetic susceptibility to infections due to particular pathogens	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:264992	Orphanet:137631	\N	"" []	Orphanet:137631	"" []	214820	\N	\N	EFO	1	EFO	Genetic interstitial lung disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:325109	Orphanet:137631	\N	"" []	Orphanet:137631	"" []	214821	\N	\N	EFO	1	EFO	Syndrome with 46,XX disorder of sex development	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:325638	Orphanet:137631	\N	"" []	Orphanet:137631	"" []	214822	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:137631	"" []	568875	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:156610	Orphanet:264992	\N	"" []	Orphanet:137631	"" []	568876	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:325697	Orphanet:325109	\N	"" []	Orphanet:137631	"" []	568877	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:137631	"" []	568878	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:137631	"" []	1150554	\N	\N	EFO	3	EFO	Primary immunodeficiency	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137631	"" []	1150555	\N	\N	EFO	3	EFO	genetic disorder	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:137631	"" []	1150556	\N	\N	EFO	3	EFO	respiratory system disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:137631	"" []	1150557	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:137631	"" []	1150558	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:137631	"" []	2032826	\N	\N	EFO	4	EFO	Rare genetic immune disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137631	"" []	4391242	\N	\N	EFO	6	EFO	disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137631	"" []	2032828	\N	\N	EFO	4	EFO	disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:137631	"" []	2032829	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:137631	"" []	2032830	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:137631	"" []	2032831	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137631	"" []	2032832	\N	\N	EFO	4	EFO	genetic disorder	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:137631	"" []	2032833	\N	\N	EFO	4	EFO	reproductive system disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137631	"" []	3183343	\N	\N	EFO	5	EFO	genetic disorder	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:137631	"" []	3183344	\N	\N	EFO	5	EFO	immune system disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137631	"" []	5059592	\N	\N	EFO	7	EFO	disposition	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137631	"" []	3183346	\N	\N	EFO	5	EFO	genetic disorder	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137631	"" []	3183347	\N	\N	EFO	5	EFO	genetic disorder	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:137631	"" []	3183348	\N	\N	EFO	5	EFO	endocrine system disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137631	"" []	3183349	\N	\N	EFO	5	EFO	genetic disorder	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137631	"" []	3183351	\N	\N	EFO	5	EFO	disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137631	"" []	4391243	\N	\N	EFO	6	EFO	disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137631	"" []	5876755	\N	\N	EFO	8	EFO	material property	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137631	"" []	4391245	\N	\N	EFO	6	EFO	disease	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137631	"" []	6469966	\N	\N	EFO	9	EFO	experimental factor	Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
Orphanet:137634	\N	\N	"" []	Orphanet:137634	"" []	73472	\N	\N	EFO	0	EFO	Overgrowth - macrocephaly - facial dysmorphism	Overgrowth - macrocephaly - facial dysmorphism
Orphanet:93460	Orphanet:137634	\N	"" []	Orphanet:137634	"" []	214823	\N	\N	EFO	1	EFO	Overgrowth syndrome	Overgrowth - macrocephaly - facial dysmorphism
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:137634	"" []	568879	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Overgrowth - macrocephaly - facial dysmorphism
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:137634	"" []	1150559	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Overgrowth - macrocephaly - facial dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137634	"" []	2032834	\N	\N	EFO	4	EFO	genetic disorder	Overgrowth - macrocephaly - facial dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137634	"" []	3183352	\N	\N	EFO	5	EFO	disease	Overgrowth - macrocephaly - facial dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137634	"" []	4391246	\N	\N	EFO	6	EFO	disposition	Overgrowth - macrocephaly - facial dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137634	"" []	5410405	\N	\N	EFO	7	EFO	material property	Overgrowth - macrocephaly - facial dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137634	"" []	6148111	\N	\N	EFO	8	EFO	experimental factor	Overgrowth - macrocephaly - facial dysmorphism
Orphanet:137639	\N	\N	"" []	Orphanet:137639	"" []	73473	\N	\N	EFO	0	EFO	Leukoencephalopathy - ataxia - hypodontia - hypomyelination	Leukoencephalopathy - ataxia - hypodontia - hypomyelination
Orphanet:289494	Orphanet:137639	\N	"" []	Orphanet:137639	"" []	214824	\N	\N	EFO	1	EFO	Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism	Leukoencephalopathy - ataxia - hypodontia - hypomyelination
Orphanet:68356	Orphanet:289494	\N	"" []	Orphanet:137639	"" []	568880	\N	\N	EFO	2	EFO	Leukodystrophy	Leukoencephalopathy - ataxia - hypodontia - hypomyelination
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:137639	"" []	1150560	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Leukoencephalopathy - ataxia - hypodontia - hypomyelination
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137639	"" []	2032835	\N	\N	EFO	4	EFO	genetic disorder	Leukoencephalopathy - ataxia - hypodontia - hypomyelination
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137639	"" []	3183353	\N	\N	EFO	5	EFO	disease	Leukoencephalopathy - ataxia - hypodontia - hypomyelination
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137639	"" []	4391247	\N	\N	EFO	6	EFO	disposition	Leukoencephalopathy - ataxia - hypodontia - hypomyelination
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137639	"" []	5410406	\N	\N	EFO	7	EFO	material property	Leukoencephalopathy - ataxia - hypodontia - hypomyelination
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137639	"" []	6148112	\N	\N	EFO	8	EFO	experimental factor	Leukoencephalopathy - ataxia - hypodontia - hypomyelination
Orphanet:137653	\N	\N	"" []	Orphanet:137653	"" []	73474	\N	\N	EFO	0	EFO	Microcephaly - digital anomalies - intellectual disability	Microcephaly - digital anomalies - intellectual disability
Orphanet:102283	Orphanet:137653	\N	"" []	Orphanet:137653	"" []	214825	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephaly - digital anomalies - intellectual disability
Orphanet:269528	Orphanet:137653	\N	"" []	Orphanet:137653	"" []	214826	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Microcephaly - digital anomalies - intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:137653	"" []	568881	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly - digital anomalies - intellectual disability
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:137653	"" []	568882	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephaly - digital anomalies - intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:137653	"" []	1150561	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - digital anomalies - intellectual disability
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:137653	"" []	1150562	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microcephaly - digital anomalies - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137653	"" []	3183355	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - digital anomalies - intellectual disability
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:137653	"" []	2032837	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - digital anomalies - intellectual disability
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:137653	"" []	2032838	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephaly - digital anomalies - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137653	"" []	4133268	\N	\N	EFO	6	EFO	disease	Microcephaly - digital anomalies - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137653	"" []	3183356	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - digital anomalies - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137653	"" []	5181567	\N	\N	EFO	7	EFO	disposition	Microcephaly - digital anomalies - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137653	"" []	5996945	\N	\N	EFO	8	EFO	material property	Microcephaly - digital anomalies - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137653	"" []	6550519	\N	\N	EFO	9	EFO	experimental factor	Microcephaly - digital anomalies - intellectual disability
Orphanet:137658	\N	\N	"" []	Orphanet:137658	"" []	73475	\N	\N	EFO	0	EFO	Microcephaly - intellectual disability - phalangeal and neurological anomalies	Microcephaly - intellectual disability - phalangeal and neurological anomalies
Orphanet:102283	Orphanet:137658	\N	"" []	Orphanet:137658	"" []	214827	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephaly - intellectual disability - phalangeal and neurological anomalies
Orphanet:269528	Orphanet:137658	\N	"" []	Orphanet:137658	"" []	214828	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Microcephaly - intellectual disability - phalangeal and neurological anomalies
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:137658	"" []	568883	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly - intellectual disability - phalangeal and neurological anomalies
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:137658	"" []	568884	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephaly - intellectual disability - phalangeal and neurological anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:137658	"" []	1150563	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - intellectual disability - phalangeal and neurological anomalies
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:137658	"" []	1150564	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microcephaly - intellectual disability - phalangeal and neurological anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137658	"" []	3183358	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - intellectual disability - phalangeal and neurological anomalies
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:137658	"" []	2032840	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - intellectual disability - phalangeal and neurological anomalies
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:137658	"" []	2032841	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephaly - intellectual disability - phalangeal and neurological anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137658	"" []	4133269	\N	\N	EFO	6	EFO	disease	Microcephaly - intellectual disability - phalangeal and neurological anomalies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137658	"" []	3183359	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - intellectual disability - phalangeal and neurological anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137658	"" []	5181568	\N	\N	EFO	7	EFO	disposition	Microcephaly - intellectual disability - phalangeal and neurological anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137658	"" []	5996946	\N	\N	EFO	8	EFO	material property	Microcephaly - intellectual disability - phalangeal and neurological anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137658	"" []	6550520	\N	\N	EFO	9	EFO	experimental factor	Microcephaly - intellectual disability - phalangeal and neurological anomalies
Orphanet:137667	\N	\N	"" []	Orphanet:137667	"" []	73476	\N	\N	EFO	0	EFO	Capillary malformation - arteriovenous malformation	Capillary malformation - arteriovenous malformation
Orphanet:211240	Orphanet:137667	\N	"" []	Orphanet:137667	"" []	214829	\N	\N	EFO	1	EFO	Genetic vascular anomaly	Capillary malformation - arteriovenous malformation
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:137667	"" []	568885	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Capillary malformation - arteriovenous malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137667	"" []	1150565	\N	\N	EFO	3	EFO	genetic disorder	Capillary malformation - arteriovenous malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137667	"" []	2032842	\N	\N	EFO	4	EFO	disease	Capillary malformation - arteriovenous malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137667	"" []	3183360	\N	\N	EFO	5	EFO	disposition	Capillary malformation - arteriovenous malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137667	"" []	4391250	\N	\N	EFO	6	EFO	material property	Capillary malformation - arteriovenous malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137667	"" []	5410409	\N	\N	EFO	7	EFO	experimental factor	Capillary malformation - arteriovenous malformation
Orphanet:137675	\N	\N	"" []	Orphanet:137675	"" []	73477	\N	\N	EFO	0	EFO	Histiocytoid cardiomyopathy	Histiocytoid cardiomyopathy
Orphanet:101934	Orphanet:137675	\N	"" []	Orphanet:137675	"" []	214830	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Histiocytoid cardiomyopathy
Orphanet:217613	Orphanet:137675	\N	"" []	Orphanet:137675	"" []	214831	\N	\N	EFO	1	EFO	Mitochondrial disease with dilated cardiomyopathy	Histiocytoid cardiomyopathy
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:137675	"" []	568886	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Histiocytoid cardiomyopathy
Orphanet:217607	Orphanet:217613	\N	"" []	Orphanet:137675	"" []	568887	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Histiocytoid cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137675	"" []	2032846	\N	\N	EFO	4	EFO	genetic disorder	Histiocytoid cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:137675	"" []	2032847	\N	\N	EFO	4	EFO	heart disease	Histiocytoid cardiomyopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:137675	"" []	1150568	\N	\N	EFO	3	EFO	cardiomyopathy	Histiocytoid cardiomyopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:137675	"" []	1150569	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Histiocytoid cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137675	"" []	3000129	\N	\N	EFO	5	EFO	disease	Histiocytoid cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:137675	"" []	3000130	\N	\N	EFO	5	EFO	cardiovascular disease	Histiocytoid cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:137675	"" []	2032845	\N	\N	EFO	4	EFO	heart disease	Histiocytoid cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137675	"" []	5181570	\N	\N	EFO	7	EFO	disposition	Histiocytoid cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137675	"" []	4133271	\N	\N	EFO	6	EFO	disease	Histiocytoid cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137675	"" []	5876756	\N	\N	EFO	8	EFO	material property	Histiocytoid cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137675	"" []	6469967	\N	\N	EFO	9	EFO	experimental factor	Histiocytoid cardiomyopathy
Orphanet:137678	\N	\N	"" []	Orphanet:137678	"" []	73478	\N	\N	EFO	0	EFO	Czech dysplasia, metatarsal type	Czech dysplasia, metatarsal type
Orphanet:253	Orphanet:137678	\N	"" []	Orphanet:137678	"" []	214832	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Czech dysplasia, metatarsal type
Orphanet:93421	Orphanet:137678	\N	"" []	Orphanet:137678	"" []	214833	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Czech dysplasia, metatarsal type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:137678	"" []	568888	\N	\N	EFO	2	EFO	Primary bone dysplasia	Czech dysplasia, metatarsal type
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:137678	"" []	568889	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Czech dysplasia, metatarsal type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:137678	"" []	1150570	\N	\N	EFO	3	EFO	Rare genetic bone disease	Czech dysplasia, metatarsal type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:137678	"" []	1150571	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Czech dysplasia, metatarsal type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:137678	"" []	1150572	\N	\N	EFO	3	EFO	Rare genetic bone disease	Czech dysplasia, metatarsal type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137678	"" []	2032848	\N	\N	EFO	4	EFO	genetic disorder	Czech dysplasia, metatarsal type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:137678	"" []	2032849	\N	\N	EFO	4	EFO	bone disease	Czech dysplasia, metatarsal type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:137678	"" []	2032850	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Czech dysplasia, metatarsal type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137678	"" []	4391254	\N	\N	EFO	6	EFO	disease	Czech dysplasia, metatarsal type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:137678	"" []	3183364	\N	\N	EFO	5	EFO	skeletal system disease	Czech dysplasia, metatarsal type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137678	"" []	3183365	\N	\N	EFO	5	EFO	genetic disorder	Czech dysplasia, metatarsal type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137678	"" []	5181571	\N	\N	EFO	7	EFO	disposition	Czech dysplasia, metatarsal type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137678	"" []	4391253	\N	\N	EFO	6	EFO	disease	Czech dysplasia, metatarsal type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137678	"" []	5996948	\N	\N	EFO	8	EFO	material property	Czech dysplasia, metatarsal type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137678	"" []	6550521	\N	\N	EFO	9	EFO	experimental factor	Czech dysplasia, metatarsal type
Orphanet:137681	\N	\N	"" []	Orphanet:137681	"" []	73479	\N	\N	EFO	0	EFO	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Orphanet:101940	Orphanet:137681	\N	"" []	Orphanet:137681	"" []	214834	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Orphanet:35696	Orphanet:137681	\N	"" []	Orphanet:137681	"" []	214835	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:137681	"" []	568890	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:137681	"" []	568891	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:137681	"" []	1150573	\N	\N	EFO	3	EFO	digestive system disease	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137681	"" []	1150574	\N	\N	EFO	3	EFO	genetic disorder	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:137681	"" []	1150575	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137681	"" []	2032851	\N	\N	EFO	4	EFO	disease	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137681	"" []	6148116	\N	\N	EFO	8	EFO	disease	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:137681	"" []	2032853	\N	\N	EFO	4	EFO	Mitochondrial disease	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137681	"" []	6378809	\N	\N	EFO	9	EFO	disposition	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:137681	"" []	3183367	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:137681	"" []	3183368	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137681	"" []	6778603	\N	\N	EFO	10	EFO	material property	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:137681	"" []	4391256	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:137681	"" []	4391257	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137681	"" []	7029817	\N	\N	EFO	11	EFO	experimental factor	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137681	"" []	5410413	\N	\N	EFO	7	EFO	genetic disorder	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137681	"" []	5410414	\N	\N	EFO	7	EFO	genetic disorder	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:137681	"" []	5410415	\N	\N	EFO	7	EFO	metabolic disease	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137681	"" []	6148117	\N	\N	EFO	8	EFO	disease	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Orphanet:1377	\N	\N	"" []	Orphanet:1377	"" []	73480	\N	\N	EFO	0	EFO	Cataract-microcornea syndrome	Cataract-microcornea syndrome
Orphanet:108985	Orphanet:1377	\N	"" []	Orphanet:1377	"" []	214836	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Cataract-microcornea syndrome
Orphanet:98641	Orphanet:1377	\N	"" []	Orphanet:1377	"" []	214837	\N	\N	EFO	1	EFO	Syndromic cataract	Cataract-microcornea syndrome
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:1377	"" []	568892	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Cataract-microcornea syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1377	"" []	568893	\N	\N	EFO	2	EFO	Rare cataract	Cataract-microcornea syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1377	"" []	1150576	\N	\N	EFO	3	EFO	Rare genetic eye disease	Cataract-microcornea syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1377	"" []	1150577	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract-microcornea syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1377	"" []	1150578	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Cataract-microcornea syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1377	"" []	3183371	\N	\N	EFO	5	EFO	genetic disorder	Cataract-microcornea syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1377	"" []	3183372	\N	\N	EFO	5	EFO	eye disease	Cataract-microcornea syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1377	"" []	2032856	\N	\N	EFO	4	EFO	genetic disorder	Cataract-microcornea syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1377	"" []	2032857	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cataract-microcornea syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1377	"" []	4133272	\N	\N	EFO	6	EFO	disease	Cataract-microcornea syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1377	"" []	4133273	\N	\N	EFO	6	EFO	disease	Cataract-microcornea syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1377	"" []	5181572	\N	\N	EFO	7	EFO	disposition	Cataract-microcornea syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1377	"" []	5996949	\N	\N	EFO	8	EFO	material property	Cataract-microcornea syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1377	"" []	6550522	\N	\N	EFO	9	EFO	experimental factor	Cataract-microcornea syndrome
Orphanet:137754	\N	\N	"" []	Orphanet:137754	"" []	73481	\N	\N	EFO	0	EFO	Neurological conditions associated with aminoacylase 1 deficiency	Neurological conditions associated with aminoacylase 1 deficiency
Orphanet:308448	Orphanet:137754	\N	"" []	Orphanet:137754	"" []	214838	\N	\N	EFO	1	EFO	Aminoacylase deficiency	Neurological conditions associated with aminoacylase 1 deficiency
Orphanet:68385	Orphanet:137754	\N	"" []	Orphanet:137754	"" []	214839	\N	\N	EFO	1	EFO	Neurometabolic disease	Neurological conditions associated with aminoacylase 1 deficiency
Orphanet:79158	Orphanet:308448	\N	"" []	Orphanet:137754	"" []	568894	\N	\N	EFO	2	EFO	Cerebral organic aciduria	Neurological conditions associated with aminoacylase 1 deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:137754	"" []	568895	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neurological conditions associated with aminoacylase 1 deficiency
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:137754	"" []	1150579	\N	\N	EFO	3	EFO	Organic aciduria	Neurological conditions associated with aminoacylase 1 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137754	"" []	1150580	\N	\N	EFO	3	EFO	genetic disorder	Neurological conditions associated with aminoacylase 1 deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:137754	"" []	2032858	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Neurological conditions associated with aminoacylase 1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137754	"" []	5410417	\N	\N	EFO	7	EFO	disease	Neurological conditions associated with aminoacylase 1 deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:137754	"" []	3183373	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Neurological conditions associated with aminoacylase 1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137754	"" []	5817473	\N	\N	EFO	8	EFO	disposition	Neurological conditions associated with aminoacylase 1 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137754	"" []	4391259	\N	\N	EFO	6	EFO	genetic disorder	Neurological conditions associated with aminoacylase 1 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:137754	"" []	4391260	\N	\N	EFO	6	EFO	metabolic disease	Neurological conditions associated with aminoacylase 1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137754	"" []	6409830	\N	\N	EFO	9	EFO	material property	Neurological conditions associated with aminoacylase 1 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137754	"" []	5410418	\N	\N	EFO	7	EFO	disease	Neurological conditions associated with aminoacylase 1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137754	"" []	6807687	\N	\N	EFO	10	EFO	experimental factor	Neurological conditions associated with aminoacylase 1 deficiency
Orphanet:137776	\N	\N	"" []	Orphanet:137776	"" []	73482	\N	\N	EFO	0	EFO	Lethal congenital contracture syndrome type 2	Lethal congenital contracture syndrome type 2
Orphanet:294965	Orphanet:137776	\N	"" []	Orphanet:137776	"" []	214840	\N	\N	EFO	1	EFO	Lethal congenital contracture syndrome	Lethal congenital contracture syndrome type 2
Orphanet:330206	Orphanet:137776	\N	"" []	Orphanet:137776	"" []	214841	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Lethal congenital contracture syndrome type 2
Orphanet:109007	Orphanet:294965	\N	"" []	Orphanet:137776	"" []	568896	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Lethal congenital contracture syndrome type 2
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:137776	"" []	568897	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lethal congenital contracture syndrome type 2
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:137776	"" []	1150581	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Lethal congenital contracture syndrome type 2
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:137776	"" []	1150582	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lethal congenital contracture syndrome type 2
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:137776	"" []	2032860	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Lethal congenital contracture syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137776	"" []	4391262	\N	\N	EFO	6	EFO	genetic disorder	Lethal congenital contracture syndrome type 2
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:137776	"" []	3183375	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lethal congenital contracture syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137776	"" []	5059593	\N	\N	EFO	7	EFO	disease	Lethal congenital contracture syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137776	"" []	5876757	\N	\N	EFO	8	EFO	disposition	Lethal congenital contracture syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137776	"" []	6469968	\N	\N	EFO	9	EFO	material property	Lethal congenital contracture syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137776	"" []	6848278	\N	\N	EFO	10	EFO	experimental factor	Lethal congenital contracture syndrome type 2
Orphanet:137783	\N	\N	"" []	Orphanet:137783	"" []	73483	\N	\N	EFO	0	EFO	Lethal congenital contracture syndrome type 3	Lethal congenital contracture syndrome type 3
Orphanet:294965	Orphanet:137783	\N	"" []	Orphanet:137783	"" []	214842	\N	\N	EFO	1	EFO	Lethal congenital contracture syndrome	Lethal congenital contracture syndrome type 3
Orphanet:330206	Orphanet:137783	\N	"" []	Orphanet:137783	"" []	214843	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Lethal congenital contracture syndrome type 3
Orphanet:109007	Orphanet:294965	\N	"" []	Orphanet:137783	"" []	568898	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Lethal congenital contracture syndrome type 3
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:137783	"" []	568899	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lethal congenital contracture syndrome type 3
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:137783	"" []	1150583	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Lethal congenital contracture syndrome type 3
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:137783	"" []	1150584	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lethal congenital contracture syndrome type 3
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:137783	"" []	2032862	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Lethal congenital contracture syndrome type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137783	"" []	4391264	\N	\N	EFO	6	EFO	genetic disorder	Lethal congenital contracture syndrome type 3
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:137783	"" []	3183377	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lethal congenital contracture syndrome type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137783	"" []	5059594	\N	\N	EFO	7	EFO	disease	Lethal congenital contracture syndrome type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137783	"" []	5876758	\N	\N	EFO	8	EFO	disposition	Lethal congenital contracture syndrome type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137783	"" []	6469969	\N	\N	EFO	9	EFO	material property	Lethal congenital contracture syndrome type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137783	"" []	6848279	\N	\N	EFO	10	EFO	experimental factor	Lethal congenital contracture syndrome type 3
Orphanet:137831	\N	\N	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	73484	\N	\N	EFO	0	EFO	X-linked intellectual disability - cerebellar hypoplasia	X-linked intellectual disability - cerebellar hypoplasia
Orphanet:269567	Orphanet:137831	\N	"" []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	214844	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	X-linked intellectual disability - cerebellar hypoplasia
Orphanet:98464	Orphanet:137831	\N	"" []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	214845	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - cerebellar hypoplasia
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	568900	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	X-linked intellectual disability - cerebellar hypoplasia
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	568901	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - cerebellar hypoplasia
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	1150585	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	X-linked intellectual disability - cerebellar hypoplasia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	1150586	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - cerebellar hypoplasia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	2032864	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability - cerebellar hypoplasia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	2032865	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - cerebellar hypoplasia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	2032866	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - cerebellar hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	3183379	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - cerebellar hypoplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	3183380	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - cerebellar hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	4391266	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - cerebellar hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	5410422	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - cerebellar hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	6148121	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - cerebellar hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137831	"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." []	6632071	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - cerebellar hypoplasia
Orphanet:137834	\N	\N	"" []	Orphanet:137834	"" []	73485	\N	\N	EFO	0	EFO	Frank-Ter Haar syndrome	Frank-Ter Haar syndrome
Orphanet:364541	Orphanet:137834	\N	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	Orphanet:137834	"" []	214846	\N	\N	EFO	1	EFO	Frontootopalatodigital syndrome	Frank-Ter Haar syndrome
Orphanet:364526	Orphanet:364541	\N	"" []	Orphanet:137834	"" []	568902	\N	\N	EFO	2	EFO	Primary bone dysplasia	Frank-Ter Haar syndrome
Orphanet:93425	Orphanet:364541	\N	"" []	Orphanet:137834	"" []	568903	\N	\N	EFO	2	EFO	Filamin-related bone disorder	Frank-Ter Haar syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:137834	"" []	1150587	\N	\N	EFO	3	EFO	Rare genetic bone disease	Frank-Ter Haar syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:137834	"" []	1150588	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Frank-Ter Haar syndrome
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:137834	"" []	1150589	\N	\N	EFO	3	EFO	Rare bone disease related to a common gene or pathway defect	Frank-Ter Haar syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137834	"" []	3183384	\N	\N	EFO	5	EFO	genetic disorder	Frank-Ter Haar syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:137834	"" []	3183385	\N	\N	EFO	5	EFO	bone disease	Frank-Ter Haar syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:137834	"" []	2032869	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Frank-Ter Haar syndrome
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:137834	"" []	2032870	\N	\N	EFO	4	EFO	Rare genetic bone disease	Frank-Ter Haar syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137834	"" []	4133274	\N	\N	EFO	6	EFO	disease	Frank-Ter Haar syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:137834	"" []	4133275	\N	\N	EFO	6	EFO	skeletal system disease	Frank-Ter Haar syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137834	"" []	3183383	\N	\N	EFO	5	EFO	genetic disorder	Frank-Ter Haar syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137834	"" []	5996951	\N	\N	EFO	8	EFO	disposition	Frank-Ter Haar syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137834	"" []	5181574	\N	\N	EFO	7	EFO	disease	Frank-Ter Haar syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137834	"" []	6469970	\N	\N	EFO	9	EFO	material property	Frank-Ter Haar syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137834	"" []	6848280	\N	\N	EFO	10	EFO	experimental factor	Frank-Ter Haar syndrome
Orphanet:137867	\N	\N	"" []	Orphanet:137867	"" []	73486	\N	\N	EFO	0	EFO	Madras motor neuron disease	Madras motor neuron disease
Orphanet:98505	Orphanet:137867	\N	"" []	Orphanet:137867	"" []	214847	\N	\N	EFO	1	EFO	Genetic motor neuron disease	Madras motor neuron disease
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:137867	"" []	568904	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Madras motor neuron disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:137867	"" []	1150590	\N	\N	EFO	3	EFO	muscular disease	Madras motor neuron disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:137867	"" []	1150591	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Madras motor neuron disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:137867	"" []	2032871	\N	\N	EFO	4	EFO	skeletal system disease	Madras motor neuron disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137867	"" []	2032872	\N	\N	EFO	4	EFO	genetic disorder	Madras motor neuron disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137867	"" []	3183386	\N	\N	EFO	5	EFO	disease	Madras motor neuron disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137867	"" []	3183387	\N	\N	EFO	5	EFO	disease	Madras motor neuron disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137867	"" []	4391269	\N	\N	EFO	6	EFO	disposition	Madras motor neuron disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137867	"" []	5410424	\N	\N	EFO	7	EFO	material property	Madras motor neuron disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137867	"" []	6148123	\N	\N	EFO	8	EFO	experimental factor	Madras motor neuron disease
Orphanet:137871	\N	\N	"" []	Orphanet:137871	"" []	73487	\N	\N	EFO	0	EFO	Laminopathy type Decaudain-Vigouroux	Laminopathy type Decaudain-Vigouroux
Orphanet:181368	Orphanet:137871	\N	"" []	Orphanet:137871	"" []	214848	\N	\N	EFO	1	EFO	Rare insulin-resistance syndrome	Laminopathy type Decaudain-Vigouroux
Orphanet:181422	Orphanet:137871	\N	"" []	Orphanet:137871	"" []	214849	\N	\N	EFO	1	EFO	Rare hyperlipidemia	Laminopathy type Decaudain-Vigouroux
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:137871	"" []	568905	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Laminopathy type Decaudain-Vigouroux
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:137871	"" []	568906	\N	\N	EFO	2	EFO	Rare dyslipidemia	Laminopathy type Decaudain-Vigouroux
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:137871	"" []	1150592	\N	\N	EFO	3	EFO	diabetes mellitus	Laminopathy type Decaudain-Vigouroux
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:137871	"" []	1150593	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Laminopathy type Decaudain-Vigouroux
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:137871	"" []	1150594	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Laminopathy type Decaudain-Vigouroux
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:137871	"" []	1150595	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Laminopathy type Decaudain-Vigouroux
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:137871	"" []	2032873	\N	\N	EFO	4	EFO	metabolic disease	Laminopathy type Decaudain-Vigouroux
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137871	"" []	2032874	\N	\N	EFO	4	EFO	genetic disorder	Laminopathy type Decaudain-Vigouroux
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:137871	"" []	2032875	\N	\N	EFO	4	EFO	endocrine system disease	Laminopathy type Decaudain-Vigouroux
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:137871	"" []	2032876	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Laminopathy type Decaudain-Vigouroux
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137871	"" []	4391272	\N	\N	EFO	6	EFO	disease	Laminopathy type Decaudain-Vigouroux
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137871	"" []	4391271	\N	\N	EFO	6	EFO	disease	Laminopathy type Decaudain-Vigouroux
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137871	"" []	3183390	\N	\N	EFO	5	EFO	disease	Laminopathy type Decaudain-Vigouroux
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137871	"" []	3183391	\N	\N	EFO	5	EFO	genetic disorder	Laminopathy type Decaudain-Vigouroux
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:137871	"" []	3183392	\N	\N	EFO	5	EFO	metabolic disease	Laminopathy type Decaudain-Vigouroux
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137871	"" []	5181575	\N	\N	EFO	7	EFO	disposition	Laminopathy type Decaudain-Vigouroux
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137871	"" []	5996952	\N	\N	EFO	8	EFO	material property	Laminopathy type Decaudain-Vigouroux
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137871	"" []	6550524	\N	\N	EFO	9	EFO	experimental factor	Laminopathy type Decaudain-Vigouroux
Orphanet:137888	\N	\N	"" []	Orphanet:137888	"" []	73488	\N	\N	EFO	0	EFO	Auriculocondylar syndrome	Auriculocondylar syndrome
Orphanet:141132	Orphanet:137888	\N	"" []	Orphanet:137888	"" []	214850	\N	\N	EFO	1	EFO	Oculo-auriculo-vertebral spectrum	Auriculocondylar syndrome
Orphanet:183576	Orphanet:137888	\N	"" []	Orphanet:137888	"" []	214851	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Auriculocondylar syndrome
Orphanet:155896	Orphanet:141132	\N	"" []	Orphanet:137888	"" []	568907	\N	\N	EFO	2	EFO	Otomandibular dysplasia	Auriculocondylar syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:137888	"" []	568908	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Auriculocondylar syndrome
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:137888	"" []	1150596	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Auriculocondylar syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137888	"" []	4391273	\N	\N	EFO	6	EFO	genetic disorder	Auriculocondylar syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:137888	"" []	2032877	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Auriculocondylar syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137888	"" []	5028384	\N	\N	EFO	7	EFO	disease	Auriculocondylar syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:137888	"" []	3183393	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Auriculocondylar syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137888	"" []	5817474	\N	\N	EFO	8	EFO	disposition	Auriculocondylar syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137888	"" []	6409831	\N	\N	EFO	9	EFO	material property	Auriculocondylar syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137888	"" []	6807688	\N	\N	EFO	10	EFO	experimental factor	Auriculocondylar syndrome
Orphanet:137893	\N	\N	"" []	Orphanet:137893	"" []	73489	\N	\N	EFO	0	EFO	Male infertility due to large-headed multiflagellar polyploid spermatozoa	Male infertility due to large-headed multiflagellar polyploid spermatozoa
EFO:0002625	Orphanet:137893	\N	"presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" []	Orphanet:137893	"" []	214852	\N	\N	EFO	1	EFO	teratozoospermia	Male infertility due to large-headed multiflagellar polyploid spermatozoa
Orphanet:399808	Orphanet:137893	\N	"" []	Orphanet:137893	"" []	214853	\N	\N	EFO	1	EFO	Male infertility with teratozoospermia due to single gene mutation	Male infertility due to large-headed multiflagellar polyploid spermatozoa
EFO:0000512	EFO:0002625	\N	"any diease of the reproductive system" []	Orphanet:137893	"" []	568909	\N	\N	EFO	2	EFO	reproductive system disease	Male infertility due to large-headed multiflagellar polyploid spermatozoa
Orphanet:399786	Orphanet:399808	\N	"" []	Orphanet:137893	"" []	568910	\N	\N	EFO	2	EFO	Male infertility with spermatogenesis disorder due to single gene mutation	Male infertility due to large-headed multiflagellar polyploid spermatozoa
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137893	"" []	6632073	\N	\N	EFO	9	EFO	disease	Male infertility due to large-headed multiflagellar polyploid spermatozoa
Orphanet:399775	Orphanet:399786	\N	"" []	Orphanet:137893	"" []	1150599	\N	\N	EFO	3	EFO	Male infertility with spermatogenesis disorder	Male infertility due to large-headed multiflagellar polyploid spermatozoa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137893	"" []	6758571	\N	\N	EFO	10	EFO	disposition	Male infertility due to large-headed multiflagellar polyploid spermatozoa
Orphanet:399771	Orphanet:399775	\N	"" []	Orphanet:137893	"" []	2032880	\N	\N	EFO	4	EFO	Male infertility due to sperm disorder	Male infertility due to large-headed multiflagellar polyploid spermatozoa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137893	"" []	7008634	\N	\N	EFO	11	EFO	material property	Male infertility due to large-headed multiflagellar polyploid spermatozoa
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:137893	"" []	3183396	\N	\N	EFO	5	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Male infertility due to large-headed multiflagellar polyploid spermatozoa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137893	"" []	7167528	\N	\N	EFO	12	EFO	experimental factor	Male infertility due to large-headed multiflagellar polyploid spermatozoa
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:137893	"" []	4391276	\N	\N	EFO	6	EFO	Rare genetic male infertility	Male infertility due to large-headed multiflagellar polyploid spermatozoa
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:137893	"" []	5410427	\N	\N	EFO	7	EFO	Genetic infertility	Male infertility due to large-headed multiflagellar polyploid spermatozoa
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137893	"" []	6148125	\N	\N	EFO	8	EFO	genetic disorder	Male infertility due to large-headed multiflagellar polyploid spermatozoa
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:137893	"" []	6148126	\N	\N	EFO	8	EFO	reproductive system disease	Male infertility due to large-headed multiflagellar polyploid spermatozoa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137893	"" []	6632072	\N	\N	EFO	9	EFO	disease	Male infertility due to large-headed multiflagellar polyploid spermatozoa
Orphanet:137898	\N	\N	"" []	Orphanet:137898	"" []	73490	\N	\N	EFO	0	EFO	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:182073	Orphanet:137898	\N	"" []	Orphanet:137898	"" []	214854	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:35696	Orphanet:137898	\N	"" []	Orphanet:137898	"" []	214855	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:68356	Orphanet:137898	\N	"" []	Orphanet:137898	"" []	214856	\N	\N	EFO	1	EFO	Leukodystrophy	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:137898	"" []	568911	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:137898	"" []	568912	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:137898	"" []	568913	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:137898	"" []	1150600	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:137898	"" []	1150601	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137898	"" []	3183397	\N	\N	EFO	5	EFO	genetic disorder	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:137898	"" []	2032881	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:137898	"" []	2032882	\N	\N	EFO	4	EFO	Mitochondrial disease	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137898	"" []	6148127	\N	\N	EFO	8	EFO	disease	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:137898	"" []	3183398	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:137898	"" []	3183399	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137898	"" []	6378810	\N	\N	EFO	9	EFO	disposition	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:137898	"" []	4391277	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:137898	"" []	4391278	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137898	"" []	6778604	\N	\N	EFO	10	EFO	material property	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137898	"" []	5410428	\N	\N	EFO	7	EFO	genetic disorder	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137898	"" []	5410429	\N	\N	EFO	7	EFO	genetic disorder	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:137898	"" []	5410430	\N	\N	EFO	7	EFO	metabolic disease	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137898	"" []	7029818	\N	\N	EFO	11	EFO	experimental factor	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137898	"" []	6148128	\N	\N	EFO	8	EFO	disease	Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Orphanet:137902	\N	\N	"" []	Orphanet:137902	"" []	73491	\N	\N	EFO	0	EFO	Isolated optic nerve hypoplasia	Isolated optic nerve hypoplasia
Orphanet:98671	Orphanet:137902	\N	"" []	Orphanet:137902	"" []	214857	\N	\N	EFO	1	EFO	Optic neuropathy	Isolated optic nerve hypoplasia
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:137902	"" []	568914	\N	\N	EFO	2	EFO	Rare genetic eye disease	Isolated optic nerve hypoplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137902	"" []	1150603	\N	\N	EFO	3	EFO	genetic disorder	Isolated optic nerve hypoplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:137902	"" []	1150604	\N	\N	EFO	3	EFO	eye disease	Isolated optic nerve hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137902	"" []	2032884	\N	\N	EFO	4	EFO	disease	Isolated optic nerve hypoplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137902	"" []	2032885	\N	\N	EFO	4	EFO	disease	Isolated optic nerve hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137902	"" []	3183401	\N	\N	EFO	5	EFO	disposition	Isolated optic nerve hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137902	"" []	4391280	\N	\N	EFO	6	EFO	material property	Isolated optic nerve hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137902	"" []	5410432	\N	\N	EFO	7	EFO	experimental factor	Isolated optic nerve hypoplasia
Orphanet:137905	\N	\N	"" []	Orphanet:137905	"" []	73492	\N	\N	EFO	0	EFO	Syndromic optic nerve hypoplasia	Syndromic optic nerve hypoplasia
Orphanet:98671	Orphanet:137905	\N	"" []	Orphanet:137905	"" []	214858	\N	\N	EFO	1	EFO	Optic neuropathy	Syndromic optic nerve hypoplasia
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:137905	"" []	568915	\N	\N	EFO	2	EFO	Rare genetic eye disease	Syndromic optic nerve hypoplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137905	"" []	1150605	\N	\N	EFO	3	EFO	genetic disorder	Syndromic optic nerve hypoplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:137905	"" []	1150606	\N	\N	EFO	3	EFO	eye disease	Syndromic optic nerve hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137905	"" []	2032886	\N	\N	EFO	4	EFO	disease	Syndromic optic nerve hypoplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137905	"" []	2032887	\N	\N	EFO	4	EFO	disease	Syndromic optic nerve hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137905	"" []	3183402	\N	\N	EFO	5	EFO	disposition	Syndromic optic nerve hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137905	"" []	4391281	\N	\N	EFO	6	EFO	material property	Syndromic optic nerve hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137905	"" []	5410433	\N	\N	EFO	7	EFO	experimental factor	Syndromic optic nerve hypoplasia
Orphanet:137908	\N	\N	"" []	Orphanet:137908	"" []	73493	\N	\N	EFO	0	EFO	Hypotonia with lactic acidemia and hyperammonemia	Hypotonia with lactic acidemia and hyperammonemia
Orphanet:35696	Orphanet:137908	\N	"" []	Orphanet:137908	"" []	214859	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Hypotonia with lactic acidemia and hyperammonemia
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:137908	"" []	568916	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Hypotonia with lactic acidemia and hyperammonemia
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:137908	"" []	1150607	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Hypotonia with lactic acidemia and hyperammonemia
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:137908	"" []	2032888	\N	\N	EFO	4	EFO	Mitochondrial disease	Hypotonia with lactic acidemia and hyperammonemia
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:137908	"" []	3183403	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Hypotonia with lactic acidemia and hyperammonemia
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:137908	"" []	3183404	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Hypotonia with lactic acidemia and hyperammonemia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:137908	"" []	4391282	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Hypotonia with lactic acidemia and hyperammonemia
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:137908	"" []	4391283	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Hypotonia with lactic acidemia and hyperammonemia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137908	"" []	5410434	\N	\N	EFO	7	EFO	genetic disorder	Hypotonia with lactic acidemia and hyperammonemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137908	"" []	5410435	\N	\N	EFO	7	EFO	genetic disorder	Hypotonia with lactic acidemia and hyperammonemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:137908	"" []	5410436	\N	\N	EFO	7	EFO	metabolic disease	Hypotonia with lactic acidemia and hyperammonemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137908	"" []	6148129	\N	\N	EFO	8	EFO	disease	Hypotonia with lactic acidemia and hyperammonemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137908	"" []	6148130	\N	\N	EFO	8	EFO	disease	Hypotonia with lactic acidemia and hyperammonemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137908	"" []	6632074	\N	\N	EFO	9	EFO	disposition	Hypotonia with lactic acidemia and hyperammonemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137908	"" []	6925394	\N	\N	EFO	10	EFO	material property	Hypotonia with lactic acidemia and hyperammonemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137908	"" []	7099007	\N	\N	EFO	11	EFO	experimental factor	Hypotonia with lactic acidemia and hyperammonemia
Orphanet:137911	\N	\N	"" []	Orphanet:137911	"" []	73494	\N	\N	EFO	0	EFO	Autism - facial port-wine stain	Autism - facial port-wine stain
Orphanet:180772	Orphanet:137911	\N	"" []	Orphanet:137911	"" []	214860	\N	\N	EFO	1	EFO	Rare disease with autism	Autism - facial port-wine stain
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:137911	"" []	568917	\N	\N	EFO	2	EFO	Rare pervasive developmental disorder	Autism - facial port-wine stain
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:137911	"" []	1150608	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autism - facial port-wine stain
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:137911	"" []	2032889	\N	\N	EFO	4	EFO	genetic disorder	Autism - facial port-wine stain
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:137911	"" []	3183405	\N	\N	EFO	5	EFO	disease	Autism - facial port-wine stain
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:137911	"" []	4391284	\N	\N	EFO	6	EFO	disposition	Autism - facial port-wine stain
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:137911	"" []	5410437	\N	\N	EFO	7	EFO	material property	Autism - facial port-wine stain
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:137911	"" []	6148131	\N	\N	EFO	8	EFO	experimental factor	Autism - facial port-wine stain
Orphanet:138	\N	\N	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	73495	\N	\N	EFO	0	EFO	CHARGE syndrome	CHARGE syndrome
Orphanet:108987	Orphanet:138	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	214861	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	CHARGE syndrome
Orphanet:156237	Orphanet:138	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	214862	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	CHARGE syndrome
Orphanet:156532	Orphanet:138	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	214863	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	CHARGE syndrome
Orphanet:165707	Orphanet:138	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	214864	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	CHARGE syndrome
Orphanet:181387	Orphanet:138	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	214865	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	CHARGE syndrome
Orphanet:330197	Orphanet:138	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	214866	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	CHARGE syndrome
Orphanet:399846	Orphanet:138	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	214867	\N	\N	EFO	1	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	CHARGE syndrome
Orphanet:90642	Orphanet:138	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	214868	\N	\N	EFO	1	EFO	Syndromic genetic deafness	CHARGE syndrome
Orphanet:93547	Orphanet:138	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	214869	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	CHARGE syndrome
Orphanet:98655	Orphanet:138	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	214870	\N	\N	EFO	1	EFO	Lens shape anomaly	CHARGE syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	568918	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	CHARGE syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	568919	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	CHARGE syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	568920	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	CHARGE syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	568921	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	CHARGE syndrome
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	568922	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	CHARGE syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	568923	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	CHARGE syndrome
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	568924	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	CHARGE syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	568925	\N	\N	EFO	2	EFO	Rare genetic deafness	CHARGE syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	568926	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	CHARGE syndrome
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	568927	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	CHARGE syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150609	\N	\N	EFO	3	EFO	Rare genetic eye disease	CHARGE syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150610	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	CHARGE syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150611	\N	\N	EFO	3	EFO	Genetic head and neck malformation	CHARGE syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150612	\N	\N	EFO	3	EFO	genetic disorder	CHARGE syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150613	\N	\N	EFO	3	EFO	heart disease	CHARGE syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150614	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	CHARGE syndrome
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150615	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	CHARGE syndrome
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150616	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	CHARGE syndrome
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150617	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	CHARGE syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150618	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	CHARGE syndrome
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150619	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	CHARGE syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150620	\N	\N	EFO	3	EFO	genetic disorder	CHARGE syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150621	\N	\N	EFO	3	EFO	auditory system disease	CHARGE syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150622	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	CHARGE syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150623	\N	\N	EFO	3	EFO	Rare genetic renal disease	CHARGE syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	1150624	\N	\N	EFO	3	EFO	Rare genetic eye disease	CHARGE syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	2032890	\N	\N	EFO	4	EFO	genetic disorder	CHARGE syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	2032891	\N	\N	EFO	4	EFO	eye disease	CHARGE syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	3183408	\N	\N	EFO	5	EFO	genetic disorder	CHARGE syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	2032893	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	CHARGE syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	6148132	\N	\N	EFO	8	EFO	disease	CHARGE syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	2032895	\N	\N	EFO	4	EFO	cardiovascular disease	CHARGE syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	2032896	\N	\N	EFO	4	EFO	genetic disorder	CHARGE syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	2032897	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	CHARGE syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	2032898	\N	\N	EFO	4	EFO	Rare genetic male infertility	CHARGE syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	2032899	\N	\N	EFO	4	EFO	Pituitary deficiency	CHARGE syndrome
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	2032900	\N	\N	EFO	4	EFO	Rare genetic female infertility	CHARGE syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	2032901	\N	\N	EFO	4	EFO	sensory system disease	CHARGE syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	2032902	\N	\N	EFO	4	EFO	genetic disorder	CHARGE syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	3183407	\N	\N	EFO	5	EFO	disease	CHARGE syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	6378811	\N	\N	EFO	9	EFO	disposition	CHARGE syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	3183410	\N	\N	EFO	5	EFO	disease	CHARGE syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	3183411	\N	\N	EFO	5	EFO	genetic disorder	CHARGE syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	3183412	\N	\N	EFO	5	EFO	reproductive system disease	CHARGE syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	3183413	\N	\N	EFO	5	EFO	Genetic infertility	CHARGE syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	3183414	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	CHARGE syndrome
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	3183415	\N	\N	EFO	5	EFO	Genetic infertility	CHARGE syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	3183416	\N	\N	EFO	5	EFO	nervous system disease	CHARGE syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	6778605	\N	\N	EFO	10	EFO	material property	CHARGE syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	5410440	\N	\N	EFO	7	EFO	disease	CHARGE syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	4391287	\N	\N	EFO	6	EFO	genetic disorder	CHARGE syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	4391288	\N	\N	EFO	6	EFO	reproductive system disease	CHARGE syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	4391289	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	CHARGE syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	4391290	\N	\N	EFO	6	EFO	disease	CHARGE syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	7029819	\N	\N	EFO	11	EFO	experimental factor	CHARGE syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	5410441	\N	\N	EFO	7	EFO	genetic disorder	CHARGE syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	5410442	\N	\N	EFO	7	EFO	endocrine system disease	CHARGE syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:138	"CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)." []	6148133	\N	\N	EFO	8	EFO	disease	CHARGE syndrome
Orphanet:1380	\N	\N	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	73496	\N	\N	EFO	0	EFO	Cataract - nephropathy - encephalopathy	Cataract - nephropathy - encephalopathy
Orphanet:183763	Orphanet:1380	\N	"" []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	214871	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cataract - nephropathy - encephalopathy
Orphanet:93547	Orphanet:1380	\N	"" []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	214872	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Cataract - nephropathy - encephalopathy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	568928	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cataract - nephropathy - encephalopathy
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	568929	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Cataract - nephropathy - encephalopathy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	1150625	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cataract - nephropathy - encephalopathy
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	1150626	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract - nephropathy - encephalopathy
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	1150627	\N	\N	EFO	3	EFO	Rare genetic renal disease	Cataract - nephropathy - encephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	2032903	\N	\N	EFO	4	EFO	genetic disorder	Cataract - nephropathy - encephalopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	2032904	\N	\N	EFO	4	EFO	genetic disorder	Cataract - nephropathy - encephalopathy
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	2032905	\N	\N	EFO	4	EFO	genetic disorder	Cataract - nephropathy - encephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	3183417	\N	\N	EFO	5	EFO	disease	Cataract - nephropathy - encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	4391291	\N	\N	EFO	6	EFO	disposition	Cataract - nephropathy - encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	5410443	\N	\N	EFO	7	EFO	material property	Cataract - nephropathy - encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1380	"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." []	6148134	\N	\N	EFO	8	EFO	experimental factor	Cataract - nephropathy - encephalopathy
Orphanet:138041	\N	\N	"" []	Orphanet:138041	"" []	73497	\N	\N	EFO	0	EFO	Pierre Robin syndrome associated with collagen disease	Pierre Robin syndrome associated with collagen disease
Orphanet:363294	Orphanet:138041	\N	"" []	Orphanet:138041	"" []	214873	\N	\N	EFO	1	EFO	Genetic syndromic Pierre Robin syndrome	Pierre Robin syndrome associated with collagen disease
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:138041	"" []	568930	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Pierre Robin syndrome associated with collagen disease
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:138041	"" []	1150628	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Pierre Robin syndrome associated with collagen disease
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:138041	"" []	2032906	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Pierre Robin syndrome associated with collagen disease
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:138041	"" []	3183418	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pierre Robin syndrome associated with collagen disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138041	"" []	4391292	\N	\N	EFO	6	EFO	genetic disorder	Pierre Robin syndrome associated with collagen disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:138041	"" []	5410444	\N	\N	EFO	7	EFO	disease	Pierre Robin syndrome associated with collagen disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:138041	"" []	6148135	\N	\N	EFO	8	EFO	disposition	Pierre Robin syndrome associated with collagen disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:138041	"" []	6632075	\N	\N	EFO	9	EFO	material property	Pierre Robin syndrome associated with collagen disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:138041	"" []	6925395	\N	\N	EFO	10	EFO	experimental factor	Pierre Robin syndrome associated with collagen disease
Orphanet:138047	\N	\N	"" []	Orphanet:138047	"" []	73498	\N	\N	EFO	0	EFO	Pierre Robin syndrome associated with a chromosomal anomaly	Pierre Robin syndrome associated with a chromosomal anomaly
Orphanet:363294	Orphanet:138047	\N	"" []	Orphanet:138047	"" []	214874	\N	\N	EFO	1	EFO	Genetic syndromic Pierre Robin syndrome	Pierre Robin syndrome associated with a chromosomal anomaly
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:138047	"" []	568931	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Pierre Robin syndrome associated with a chromosomal anomaly
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:138047	"" []	1150629	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Pierre Robin syndrome associated with a chromosomal anomaly
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:138047	"" []	2032907	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Pierre Robin syndrome associated with a chromosomal anomaly
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:138047	"" []	3183419	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pierre Robin syndrome associated with a chromosomal anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138047	"" []	4391293	\N	\N	EFO	6	EFO	genetic disorder	Pierre Robin syndrome associated with a chromosomal anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:138047	"" []	5410445	\N	\N	EFO	7	EFO	disease	Pierre Robin syndrome associated with a chromosomal anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:138047	"" []	6148136	\N	\N	EFO	8	EFO	disposition	Pierre Robin syndrome associated with a chromosomal anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:138047	"" []	6632076	\N	\N	EFO	9	EFO	material property	Pierre Robin syndrome associated with a chromosomal anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:138047	"" []	6925396	\N	\N	EFO	10	EFO	experimental factor	Pierre Robin syndrome associated with a chromosomal anomaly
Orphanet:138050	\N	\N	"" []	Orphanet:138050	"" []	73499	\N	\N	EFO	0	EFO	Pierre Robin syndrome associated with branchial archs anomalies	Pierre Robin syndrome associated with branchial archs anomalies
Orphanet:363294	Orphanet:138050	\N	"" []	Orphanet:138050	"" []	214875	\N	\N	EFO	1	EFO	Genetic syndromic Pierre Robin syndrome	Pierre Robin syndrome associated with branchial archs anomalies
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:138050	"" []	568932	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Pierre Robin syndrome associated with branchial archs anomalies
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:138050	"" []	1150630	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Pierre Robin syndrome associated with branchial archs anomalies
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:138050	"" []	2032908	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Pierre Robin syndrome associated with branchial archs anomalies
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:138050	"" []	3183420	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pierre Robin syndrome associated with branchial archs anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138050	"" []	4391294	\N	\N	EFO	6	EFO	genetic disorder	Pierre Robin syndrome associated with branchial archs anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:138050	"" []	5410446	\N	\N	EFO	7	EFO	disease	Pierre Robin syndrome associated with branchial archs anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:138050	"" []	6148137	\N	\N	EFO	8	EFO	disposition	Pierre Robin syndrome associated with branchial archs anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:138050	"" []	6632077	\N	\N	EFO	9	EFO	material property	Pierre Robin syndrome associated with branchial archs anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:138050	"" []	6925397	\N	\N	EFO	10	EFO	experimental factor	Pierre Robin syndrome associated with branchial archs anomalies
Orphanet:138055	\N	\N	"" []	Orphanet:138055	"" []	73500	\N	\N	EFO	0	EFO	Pierre Robin syndrome associated with bone disease	Pierre Robin syndrome associated with bone disease
Orphanet:363294	Orphanet:138055	\N	"" []	Orphanet:138055	"" []	214876	\N	\N	EFO	1	EFO	Genetic syndromic Pierre Robin syndrome	Pierre Robin syndrome associated with bone disease
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:138055	"" []	568933	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Pierre Robin syndrome associated with bone disease
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:138055	"" []	1150631	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Pierre Robin syndrome associated with bone disease
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:138055	"" []	2032909	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Pierre Robin syndrome associated with bone disease
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:138055	"" []	3183421	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pierre Robin syndrome associated with bone disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138055	"" []	4391295	\N	\N	EFO	6	EFO	genetic disorder	Pierre Robin syndrome associated with bone disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:138055	"" []	5410447	\N	\N	EFO	7	EFO	disease	Pierre Robin syndrome associated with bone disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:138055	"" []	6148138	\N	\N	EFO	8	EFO	disposition	Pierre Robin syndrome associated with bone disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:138055	"" []	6632078	\N	\N	EFO	9	EFO	material property	Pierre Robin syndrome associated with bone disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:138055	"" []	6925398	\N	\N	EFO	10	EFO	experimental factor	Pierre Robin syndrome associated with bone disease
Orphanet:138063	\N	\N	"" []	Orphanet:138063	"" []	73501	\N	\N	EFO	0	EFO	Syndrome associated with Pierre Robin syndrome	Syndrome associated with Pierre Robin syndrome
Orphanet:363294	Orphanet:138063	\N	"" []	Orphanet:138063	"" []	214877	\N	\N	EFO	1	EFO	Genetic syndromic Pierre Robin syndrome	Syndrome associated with Pierre Robin syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:138063	"" []	568934	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Syndrome associated with Pierre Robin syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:138063	"" []	1150632	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Syndrome associated with Pierre Robin syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:138063	"" []	2032910	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Syndrome associated with Pierre Robin syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:138063	"" []	3183422	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndrome associated with Pierre Robin syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138063	"" []	4391296	\N	\N	EFO	6	EFO	genetic disorder	Syndrome associated with Pierre Robin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:138063	"" []	5410448	\N	\N	EFO	7	EFO	disease	Syndrome associated with Pierre Robin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:138063	"" []	6148139	\N	\N	EFO	8	EFO	disposition	Syndrome associated with Pierre Robin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:138063	"" []	6632079	\N	\N	EFO	9	EFO	material property	Syndrome associated with Pierre Robin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:138063	"" []	6925399	\N	\N	EFO	10	EFO	experimental factor	Syndrome associated with Pierre Robin syndrome
Orphanet:138066	\N	\N	"" []	Orphanet:138066	"" []	73502	\N	\N	EFO	0	EFO	Pierre Robin syndrome associated with miscellaneous anomalies	Pierre Robin syndrome associated with miscellaneous anomalies
Orphanet:363294	Orphanet:138066	\N	"" []	Orphanet:138066	"" []	214878	\N	\N	EFO	1	EFO	Genetic syndromic Pierre Robin syndrome	Pierre Robin syndrome associated with miscellaneous anomalies
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:138066	"" []	568935	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Pierre Robin syndrome associated with miscellaneous anomalies
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:138066	"" []	1150633	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Pierre Robin syndrome associated with miscellaneous anomalies
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:138066	"" []	2032911	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Pierre Robin syndrome associated with miscellaneous anomalies
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:138066	"" []	3183423	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pierre Robin syndrome associated with miscellaneous anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:138066	"" []	4391297	\N	\N	EFO	6	EFO	genetic disorder	Pierre Robin syndrome associated with miscellaneous anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:138066	"" []	5410449	\N	\N	EFO	7	EFO	disease	Pierre Robin syndrome associated with miscellaneous anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:138066	"" []	6148140	\N	\N	EFO	8	EFO	disposition	Pierre Robin syndrome associated with miscellaneous anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:138066	"" []	6632080	\N	\N	EFO	9	EFO	material property	Pierre Robin syndrome associated with miscellaneous anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:138066	"" []	6925400	\N	\N	EFO	10	EFO	experimental factor	Pierre Robin syndrome associated with miscellaneous anomalies
Orphanet:1381	\N	\N	"" []	Orphanet:1381	"" []	73503	\N	\N	EFO	0	EFO	Cataract - intellectual disability - anal atresia - urinary defects	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:102283	Orphanet:1381	\N	"" []	Orphanet:1381	"" []	214879	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:108987	Orphanet:1381	\N	"" []	Orphanet:1381	"" []	214880	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:117573	Orphanet:1381	\N	"" []	Orphanet:1381	"" []	214881	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:183763	Orphanet:1381	\N	"" []	Orphanet:1381	"" []	214882	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:98641	Orphanet:1381	\N	"" []	Orphanet:1381	"" []	214883	\N	\N	EFO	1	EFO	Syndromic cataract	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1381	"" []	568936	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1381	"" []	568937	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:1381	"" []	568938	\N	\N	EFO	2	EFO	Anorectal malformation	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1381	"" []	568939	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1381	"" []	568940	\N	\N	EFO	2	EFO	Rare cataract	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1381	"" []	1150634	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1381	"" []	1150635	\N	\N	EFO	3	EFO	Rare genetic eye disease	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1381	"" []	1150636	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:1381	"" []	1150637	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1381	"" []	1150638	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1381	"" []	1150639	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Cataract - intellectual disability - anal atresia - urinary defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1381	"" []	3183426	\N	\N	EFO	5	EFO	genetic disorder	Cataract - intellectual disability - anal atresia - urinary defects
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1381	"" []	3183427	\N	\N	EFO	5	EFO	genetic disorder	Cataract - intellectual disability - anal atresia - urinary defects
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1381	"" []	3183428	\N	\N	EFO	5	EFO	eye disease	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1381	"" []	2032915	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cataract - intellectual disability - anal atresia - urinary defects
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1381	"" []	2032916	\N	\N	EFO	4	EFO	genetic disorder	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1381	"" []	2032917	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cataract - intellectual disability - anal atresia - urinary defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1381	"" []	4133278	\N	\N	EFO	6	EFO	disease	Cataract - intellectual disability - anal atresia - urinary defects
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1381	"" []	4133279	\N	\N	EFO	6	EFO	disease	Cataract - intellectual disability - anal atresia - urinary defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1381	"" []	5181577	\N	\N	EFO	7	EFO	disposition	Cataract - intellectual disability - anal atresia - urinary defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1381	"" []	5996954	\N	\N	EFO	8	EFO	material property	Cataract - intellectual disability - anal atresia - urinary defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1381	"" []	6550525	\N	\N	EFO	9	EFO	experimental factor	Cataract - intellectual disability - anal atresia - urinary defects
Orphanet:1383	\N	\N	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	73504	\N	\N	EFO	0	EFO	Cataract - deafness - hypogonadism	Cataract - deafness - hypogonadism
Orphanet:102283	Orphanet:1383	\N	"" []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	214884	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cataract - deafness - hypogonadism
Orphanet:183763	Orphanet:1383	\N	"" []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	214885	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cataract - deafness - hypogonadism
Orphanet:90642	Orphanet:1383	\N	"" []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	214886	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Cataract - deafness - hypogonadism
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	568941	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cataract - deafness - hypogonadism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	568942	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cataract - deafness - hypogonadism
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	568943	\N	\N	EFO	2	EFO	Rare genetic deafness	Cataract - deafness - hypogonadism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	1150640	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract - deafness - hypogonadism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	1150641	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cataract - deafness - hypogonadism
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	1150642	\N	\N	EFO	3	EFO	genetic disorder	Cataract - deafness - hypogonadism
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	1150643	\N	\N	EFO	3	EFO	auditory system disease	Cataract - deafness - hypogonadism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	2032918	\N	\N	EFO	4	EFO	genetic disorder	Cataract - deafness - hypogonadism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	2032919	\N	\N	EFO	4	EFO	genetic disorder	Cataract - deafness - hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	3183429	\N	\N	EFO	5	EFO	disease	Cataract - deafness - hypogonadism
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	2032921	\N	\N	EFO	4	EFO	sensory system disease	Cataract - deafness - hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	5410452	\N	\N	EFO	7	EFO	disposition	Cataract - deafness - hypogonadism
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	3183431	\N	\N	EFO	5	EFO	nervous system disease	Cataract - deafness - hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	5876761	\N	\N	EFO	8	EFO	material property	Cataract - deafness - hypogonadism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	4391300	\N	\N	EFO	6	EFO	disease	Cataract - deafness - hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1383	"Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." []	6469973	\N	\N	EFO	9	EFO	experimental factor	Cataract - deafness - hypogonadism
Orphanet:1387	\N	\N	"" []	Orphanet:1387	"" []	73505	\N	\N	EFO	0	EFO	Cataract - intellectual disability - hypogonadism	Cataract - intellectual disability - hypogonadism
Orphanet:102283	Orphanet:1387	\N	"" []	Orphanet:1387	"" []	214887	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cataract - intellectual disability - hypogonadism
Orphanet:108987	Orphanet:1387	\N	"" []	Orphanet:1387	"" []	214888	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Cataract - intellectual disability - hypogonadism
Orphanet:181387	Orphanet:1387	\N	"" []	Orphanet:1387	"" []	214889	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Cataract - intellectual disability - hypogonadism
Orphanet:183763	Orphanet:1387	\N	"" []	Orphanet:1387	"" []	214890	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cataract - intellectual disability - hypogonadism
Orphanet:98641	Orphanet:1387	\N	"" []	Orphanet:1387	"" []	214891	\N	\N	EFO	1	EFO	Syndromic cataract	Cataract - intellectual disability - hypogonadism
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1387	"" []	568944	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cataract - intellectual disability - hypogonadism
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1387	"" []	568945	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Cataract - intellectual disability - hypogonadism
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:1387	"" []	568946	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Cataract - intellectual disability - hypogonadism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1387	"" []	568947	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cataract - intellectual disability - hypogonadism
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1387	"" []	568948	\N	\N	EFO	2	EFO	Rare cataract	Cataract - intellectual disability - hypogonadism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1387	"" []	1150644	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract - intellectual disability - hypogonadism
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1387	"" []	1150645	\N	\N	EFO	3	EFO	Rare genetic eye disease	Cataract - intellectual disability - hypogonadism
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1387	"" []	1150646	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract - intellectual disability - hypogonadism
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:1387	"" []	1150647	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Cataract - intellectual disability - hypogonadism
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:1387	"" []	1150648	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Cataract - intellectual disability - hypogonadism
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:1387	"" []	1150649	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Cataract - intellectual disability - hypogonadism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1387	"" []	1150650	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cataract - intellectual disability - hypogonadism
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1387	"" []	1150651	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Cataract - intellectual disability - hypogonadism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1387	"" []	2032922	\N	\N	EFO	4	EFO	genetic disorder	Cataract - intellectual disability - hypogonadism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1387	"" []	3183438	\N	\N	EFO	5	EFO	genetic disorder	Cataract - intellectual disability - hypogonadism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1387	"" []	3183439	\N	\N	EFO	5	EFO	eye disease	Cataract - intellectual disability - hypogonadism
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:1387	"" []	2032925	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Cataract - intellectual disability - hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:1387	"" []	2032926	\N	\N	EFO	4	EFO	Rare genetic male infertility	Cataract - intellectual disability - hypogonadism
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:1387	"" []	2032927	\N	\N	EFO	4	EFO	Pituitary deficiency	Cataract - intellectual disability - hypogonadism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1387	"" []	2032928	\N	\N	EFO	4	EFO	genetic disorder	Cataract - intellectual disability - hypogonadism
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1387	"" []	2032929	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cataract - intellectual disability - hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1387	"" []	6148143	\N	\N	EFO	8	EFO	disease	Cataract - intellectual disability - hypogonadism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1387	"" []	4133282	\N	\N	EFO	6	EFO	disease	Cataract - intellectual disability - hypogonadism
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1387	"" []	3183434	\N	\N	EFO	5	EFO	genetic disorder	Cataract - intellectual disability - hypogonadism
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:1387	"" []	3183435	\N	\N	EFO	5	EFO	reproductive system disease	Cataract - intellectual disability - hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:1387	"" []	3183436	\N	\N	EFO	5	EFO	Genetic infertility	Cataract - intellectual disability - hypogonadism
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:1387	"" []	3183437	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Cataract - intellectual disability - hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1387	"" []	6409833	\N	\N	EFO	9	EFO	disposition	Cataract - intellectual disability - hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1387	"" []	5410455	\N	\N	EFO	7	EFO	disease	Cataract - intellectual disability - hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1387	"" []	4391303	\N	\N	EFO	6	EFO	genetic disorder	Cataract - intellectual disability - hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:1387	"" []	4391304	\N	\N	EFO	6	EFO	reproductive system disease	Cataract - intellectual disability - hypogonadism
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:1387	"" []	4391305	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Cataract - intellectual disability - hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1387	"" []	6807690	\N	\N	EFO	10	EFO	material property	Cataract - intellectual disability - hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1387	"" []	5410456	\N	\N	EFO	7	EFO	genetic disorder	Cataract - intellectual disability - hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1387	"" []	5410457	\N	\N	EFO	7	EFO	endocrine system disease	Cataract - intellectual disability - hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1387	"" []	7048543	\N	\N	EFO	11	EFO	experimental factor	Cataract - intellectual disability - hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1387	"" []	6148144	\N	\N	EFO	8	EFO	disease	Cataract - intellectual disability - hypogonadism
Orphanet:1388	\N	\N	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	73506	\N	\N	EFO	0	EFO	Catel-Manzke syndrome	Catel-Manzke syndrome
Orphanet:102283	Orphanet:1388	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	214892	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Catel-Manzke syndrome
Orphanet:139039	Orphanet:1388	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	214893	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Catel-Manzke syndrome
Orphanet:183763	Orphanet:1388	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	214894	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Catel-Manzke syndrome
Orphanet:294959	Orphanet:1388	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	214895	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Catel-Manzke syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	568949	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Catel-Manzke syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	568950	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Catel-Manzke syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	568951	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Catel-Manzke syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	568952	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Catel-Manzke syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	568953	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Catel-Manzke syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	1150652	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Catel-Manzke syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	1150653	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Catel-Manzke syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	1150654	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Catel-Manzke syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	1150655	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Catel-Manzke syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	1150656	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Catel-Manzke syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	4391307	\N	\N	EFO	6	EFO	genetic disorder	Catel-Manzke syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	2032931	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Catel-Manzke syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	2032932	\N	\N	EFO	4	EFO	genetic disorder	Catel-Manzke syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	2032933	\N	\N	EFO	4	EFO	Rare genetic bone disease	Catel-Manzke syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	2032934	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Catel-Manzke syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	2032935	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Catel-Manzke syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	5059597	\N	\N	EFO	7	EFO	disease	Catel-Manzke syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	3183441	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Catel-Manzke syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	3183442	\N	\N	EFO	5	EFO	genetic disorder	Catel-Manzke syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	3183443	\N	\N	EFO	5	EFO	bone disease	Catel-Manzke syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	3183444	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Catel-Manzke syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	5876763	\N	\N	EFO	8	EFO	disposition	Catel-Manzke syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	4391308	\N	\N	EFO	6	EFO	skeletal system disease	Catel-Manzke syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	6469975	\N	\N	EFO	9	EFO	material property	Catel-Manzke syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	5410459	\N	\N	EFO	7	EFO	disease	Catel-Manzke syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1388	"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." []	6848282	\N	\N	EFO	10	EFO	experimental factor	Catel-Manzke syndrome
Orphanet:1389	\N	\N	"" []	Orphanet:1389	"" []	73507	\N	\N	EFO	0	EFO	Cortical blindness - intellectual disability - polydactyly	Cortical blindness - intellectual disability - polydactyly
Orphanet:102283	Orphanet:1389	\N	"" []	Orphanet:1389	"" []	214896	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cortical blindness - intellectual disability - polydactyly
Orphanet:183763	Orphanet:1389	\N	"" []	Orphanet:1389	"" []	214897	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cortical blindness - intellectual disability - polydactyly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1389	"" []	568954	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cortical blindness - intellectual disability - polydactyly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1389	"" []	568955	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cortical blindness - intellectual disability - polydactyly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1389	"" []	1150657	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cortical blindness - intellectual disability - polydactyly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1389	"" []	1150658	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cortical blindness - intellectual disability - polydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1389	"" []	2032936	\N	\N	EFO	4	EFO	genetic disorder	Cortical blindness - intellectual disability - polydactyly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1389	"" []	2032937	\N	\N	EFO	4	EFO	genetic disorder	Cortical blindness - intellectual disability - polydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1389	"" []	3183446	\N	\N	EFO	5	EFO	disease	Cortical blindness - intellectual disability - polydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1389	"" []	4391309	\N	\N	EFO	6	EFO	disposition	Cortical blindness - intellectual disability - polydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1389	"" []	5410460	\N	\N	EFO	7	EFO	material property	Cortical blindness - intellectual disability - polydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1389	"" []	6148146	\N	\N	EFO	8	EFO	experimental factor	Cortical blindness - intellectual disability - polydactyly
Orphanet:139	\N	\N	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	73508	\N	\N	EFO	0	EFO	CHILD syndrome	CHILD syndrome
Orphanet:139027	Orphanet:139	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	214898	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	CHILD syndrome
Orphanet:281210	Orphanet:139	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	214899	\N	\N	EFO	1	EFO	X-linked ichthyosis syndrome	CHILD syndrome
Orphanet:330206	Orphanet:139	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	214900	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	CHILD syndrome
Orphanet:79195	Orphanet:139	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	214901	\N	\N	EFO	1	EFO	Sterol biosynthesis disorder	CHILD syndrome
Orphanet:93442	Orphanet:139	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	214902	\N	\N	EFO	1	EFO	Chondrodysplasia punctata	CHILD syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	568956	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	CHILD syndrome
Orphanet:281085	Orphanet:281210	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	568957	\N	\N	EFO	2	EFO	Inherited ichthyosis syndromic form	CHILD syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	568958	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	CHILD syndrome
Orphanet:139009	Orphanet:79195	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	568959	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	CHILD syndrome
Orphanet:79226	Orphanet:79195	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	568960	\N	\N	EFO	2	EFO	Sterol metabolism disorder	CHILD syndrome
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	568961	\N	\N	EFO	2	EFO	Primary bone dysplasia	CHILD syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	3183452	\N	\N	EFO	5	EFO	genetic disorder	CHILD syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	1150660	\N	\N	EFO	3	EFO	Inherited ichthyosis	CHILD syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	1150661	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	CHILD syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	1150662	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	CHILD syndrome
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	1150663	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	CHILD syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	1150664	\N	\N	EFO	3	EFO	Rare genetic bone disease	CHILD syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	1150665	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	CHILD syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	5410462	\N	\N	EFO	7	EFO	disease	CHILD syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	2032939	\N	\N	EFO	4	EFO	Genetic epidermal disorder	CHILD syndrome
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	2032941	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CHILD syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	2032942	\N	\N	EFO	4	EFO	genetic disorder	CHILD syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	2032943	\N	\N	EFO	4	EFO	bone disease	CHILD syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	2032944	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	CHILD syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	5817476	\N	\N	EFO	8	EFO	disposition	CHILD syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	3183448	\N	\N	EFO	5	EFO	Rare genetic skin disease	CHILD syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	3183449	\N	\N	EFO	5	EFO	genetic disorder	CHILD syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	3183450	\N	\N	EFO	5	EFO	metabolic disease	CHILD syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	3183451	\N	\N	EFO	5	EFO	skeletal system disease	CHILD syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	6409834	\N	\N	EFO	9	EFO	material property	CHILD syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	4391311	\N	\N	EFO	6	EFO	genetic disorder	CHILD syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	4391312	\N	\N	EFO	6	EFO	skin disease	CHILD syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	4391313	\N	\N	EFO	6	EFO	disease	CHILD syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	4391314	\N	\N	EFO	6	EFO	disease	CHILD syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	6807691	\N	\N	EFO	10	EFO	experimental factor	CHILD syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139	"CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." []	5410463	\N	\N	EFO	7	EFO	disease	CHILD syndrome
Orphanet:1390	\N	\N	"" []	Orphanet:1390	"" []	73509	\N	\N	EFO	0	EFO	Night blindness - skeletal anomalies - dysmorphism	Night blindness - skeletal anomalies - dysmorphism
Orphanet:330206	Orphanet:1390	\N	"" []	Orphanet:1390	"" []	214903	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Night blindness - skeletal anomalies - dysmorphism
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1390	"" []	568962	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Night blindness - skeletal anomalies - dysmorphism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1390	"" []	1150666	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Night blindness - skeletal anomalies - dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1390	"" []	2032945	\N	\N	EFO	4	EFO	genetic disorder	Night blindness - skeletal anomalies - dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1390	"" []	3183453	\N	\N	EFO	5	EFO	disease	Night blindness - skeletal anomalies - dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1390	"" []	4391315	\N	\N	EFO	6	EFO	disposition	Night blindness - skeletal anomalies - dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1390	"" []	5410464	\N	\N	EFO	7	EFO	material property	Night blindness - skeletal anomalies - dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1390	"" []	6148147	\N	\N	EFO	8	EFO	experimental factor	Night blindness - skeletal anomalies - dysmorphism
Orphanet:139009	\N	\N	"" []	Orphanet:139009	"" []	73510	\N	\N	EFO	0	EFO	Developmental anomaly of metabolic origin	Developmental anomaly of metabolic origin
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:139009	"" []	214904	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Developmental anomaly of metabolic origin
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139009	"" []	568963	\N	\N	EFO	2	EFO	genetic disorder	Developmental anomaly of metabolic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139009	"" []	1150667	\N	\N	EFO	3	EFO	disease	Developmental anomaly of metabolic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139009	"" []	2032946	\N	\N	EFO	4	EFO	disposition	Developmental anomaly of metabolic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139009	"" []	3183454	\N	\N	EFO	5	EFO	material property	Developmental anomaly of metabolic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139009	"" []	4391316	\N	\N	EFO	6	EFO	experimental factor	Developmental anomaly of metabolic origin
Orphanet:139027	\N	\N	"" []	Orphanet:139027	"" []	73511	\N	\N	EFO	0	EFO	Malformation syndrome with skin/mucosae involvement	Malformation syndrome with skin/mucosae involvement
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:139027	"" []	214905	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Malformation syndrome with skin/mucosae involvement
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139027	"" []	568964	\N	\N	EFO	2	EFO	genetic disorder	Malformation syndrome with skin/mucosae involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139027	"" []	1150668	\N	\N	EFO	3	EFO	disease	Malformation syndrome with skin/mucosae involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139027	"" []	2032947	\N	\N	EFO	4	EFO	disposition	Malformation syndrome with skin/mucosae involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139027	"" []	3183455	\N	\N	EFO	5	EFO	material property	Malformation syndrome with skin/mucosae involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139027	"" []	4391317	\N	\N	EFO	6	EFO	experimental factor	Malformation syndrome with skin/mucosae involvement
Orphanet:139030	\N	\N	"" []	Orphanet:139030	"" []	73512	\N	\N	EFO	0	EFO	Malformation syndrome with connective tissue involvement	Malformation syndrome with connective tissue involvement
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:139030	"" []	214906	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Malformation syndrome with connective tissue involvement
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139030	"" []	568965	\N	\N	EFO	2	EFO	genetic disorder	Malformation syndrome with connective tissue involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139030	"" []	1150669	\N	\N	EFO	3	EFO	disease	Malformation syndrome with connective tissue involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139030	"" []	2032948	\N	\N	EFO	4	EFO	disposition	Malformation syndrome with connective tissue involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139030	"" []	3183456	\N	\N	EFO	5	EFO	material property	Malformation syndrome with connective tissue involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139030	"" []	4391318	\N	\N	EFO	6	EFO	experimental factor	Malformation syndrome with connective tissue involvement
Orphanet:139039	\N	\N	"" []	Orphanet:139039	"" []	73513	\N	\N	EFO	0	EFO	Orofacial clefting syndrome	Orofacial clefting syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:139039	"" []	214907	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Orofacial clefting syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:139039	"" []	568966	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Orofacial clefting syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:139039	"" []	1150670	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Orofacial clefting syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:139039	"" []	2032949	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Orofacial clefting syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139039	"" []	3183457	\N	\N	EFO	5	EFO	genetic disorder	Orofacial clefting syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139039	"" []	4391319	\N	\N	EFO	6	EFO	disease	Orofacial clefting syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139039	"" []	5410465	\N	\N	EFO	7	EFO	disposition	Orofacial clefting syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139039	"" []	6148148	\N	\N	EFO	8	EFO	material property	Orofacial clefting syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139039	"" []	6632081	\N	\N	EFO	9	EFO	experimental factor	Orofacial clefting syndrome
Orphanet:1393	\N	\N	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	73514	\N	\N	EFO	0	EFO	Cerebro-costo-mandibular syndrome	Cerebro-costo-mandibular syndrome
Orphanet:330197	Orphanet:1393	\N	"" []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	214908	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Cerebro-costo-mandibular syndrome
Orphanet:93454	Orphanet:1393	\N	"" []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	214909	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Cerebro-costo-mandibular syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	568967	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cerebro-costo-mandibular syndrome
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	568968	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Cerebro-costo-mandibular syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	1150671	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cerebro-costo-mandibular syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	1150672	\N	\N	EFO	3	EFO	Rare genetic bone disease	Cerebro-costo-mandibular syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	1150673	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Cerebro-costo-mandibular syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	3183460	\N	\N	EFO	5	EFO	genetic disorder	Cerebro-costo-mandibular syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	2032951	\N	\N	EFO	4	EFO	genetic disorder	Cerebro-costo-mandibular syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	2032952	\N	\N	EFO	4	EFO	bone disease	Cerebro-costo-mandibular syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	2032953	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cerebro-costo-mandibular syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	4133285	\N	\N	EFO	6	EFO	disease	Cerebro-costo-mandibular syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	3183459	\N	\N	EFO	5	EFO	skeletal system disease	Cerebro-costo-mandibular syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	5181582	\N	\N	EFO	7	EFO	disposition	Cerebro-costo-mandibular syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	4391321	\N	\N	EFO	6	EFO	disease	Cerebro-costo-mandibular syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	5996959	\N	\N	EFO	8	EFO	material property	Cerebro-costo-mandibular syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1393	"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." []	6550528	\N	\N	EFO	9	EFO	experimental factor	Cerebro-costo-mandibular syndrome
Orphanet:139373	\N	\N	"" []	Orphanet:139373	"" []	73515	\N	\N	EFO	0	EFO	Recessive hereditary methemoglobinemia type 1	Recessive hereditary methemoglobinemia type 1
Orphanet:621	Orphanet:139373	\N	"" []	Orphanet:139373	"" []	214910	\N	\N	EFO	1	EFO	Hereditary methemoglobinemia	Recessive hereditary methemoglobinemia type 1
Orphanet:68364	Orphanet:621	\N	"" []	Orphanet:139373	"" []	568969	\N	\N	EFO	2	EFO	Hemoglobinopathy	Recessive hereditary methemoglobinemia type 1
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:139373	"" []	1150674	\N	\N	EFO	3	EFO	Rare constitutional anemia	Recessive hereditary methemoglobinemia type 1
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:139373	"" []	2032954	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Recessive hereditary methemoglobinemia type 1
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139373	"" []	3183461	\N	\N	EFO	5	EFO	genetic disorder	Recessive hereditary methemoglobinemia type 1
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:139373	"" []	3183462	\N	\N	EFO	5	EFO	hematological system disease	Recessive hereditary methemoglobinemia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139373	"" []	4391322	\N	\N	EFO	6	EFO	disease	Recessive hereditary methemoglobinemia type 1
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139373	"" []	4391323	\N	\N	EFO	6	EFO	disease	Recessive hereditary methemoglobinemia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139373	"" []	5410467	\N	\N	EFO	7	EFO	disposition	Recessive hereditary methemoglobinemia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139373	"" []	6148150	\N	\N	EFO	8	EFO	material property	Recessive hereditary methemoglobinemia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139373	"" []	6632082	\N	\N	EFO	9	EFO	experimental factor	Recessive hereditary methemoglobinemia type 1
Orphanet:139380	\N	\N	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	Orphanet:139380	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	73516	\N	\N	EFO	0	EFO	Recessive hereditary methemoglobinemia type 2	Recessive hereditary methemoglobinemia type 2
Orphanet:621	Orphanet:139380	\N	"" []	Orphanet:139380	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	214911	\N	\N	EFO	1	EFO	Hereditary methemoglobinemia	Recessive hereditary methemoglobinemia type 2
Orphanet:68364	Orphanet:621	\N	"" []	Orphanet:139380	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	568970	\N	\N	EFO	2	EFO	Hemoglobinopathy	Recessive hereditary methemoglobinemia type 2
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:139380	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	1150675	\N	\N	EFO	3	EFO	Rare constitutional anemia	Recessive hereditary methemoglobinemia type 2
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:139380	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	2032955	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Recessive hereditary methemoglobinemia type 2
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139380	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	3183463	\N	\N	EFO	5	EFO	genetic disorder	Recessive hereditary methemoglobinemia type 2
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:139380	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	3183464	\N	\N	EFO	5	EFO	hematological system disease	Recessive hereditary methemoglobinemia type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139380	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	4391324	\N	\N	EFO	6	EFO	disease	Recessive hereditary methemoglobinemia type 2
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139380	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	4391325	\N	\N	EFO	6	EFO	disease	Recessive hereditary methemoglobinemia type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139380	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	5410468	\N	\N	EFO	7	EFO	disposition	Recessive hereditary methemoglobinemia type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139380	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	6148151	\N	\N	EFO	8	EFO	material property	Recessive hereditary methemoglobinemia type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139380	"Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis." []	6632083	\N	\N	EFO	9	EFO	experimental factor	Recessive hereditary methemoglobinemia type 2
Orphanet:139390	\N	\N	"" []	Orphanet:139390	"" []	73517	\N	\N	EFO	0	EFO	Isolated craniosynostosis	Isolated craniosynostosis
Orphanet:1531	Orphanet:139390	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:139390	"" []	214912	\N	\N	EFO	1	EFO	Craniosynostosis	Isolated craniosynostosis
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:139390	"" []	568971	\N	\N	EFO	2	EFO	Genetic cranial malformation	Isolated craniosynostosis
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:139390	"" []	568972	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Isolated craniosynostosis
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:139390	"" []	1150676	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Isolated craniosynostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:139390	"" []	1150677	\N	\N	EFO	3	EFO	Rare genetic bone disease	Isolated craniosynostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:139390	"" []	1150678	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Isolated craniosynostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139390	"" []	3183467	\N	\N	EFO	5	EFO	genetic disorder	Isolated craniosynostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139390	"" []	2032957	\N	\N	EFO	4	EFO	genetic disorder	Isolated craniosynostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:139390	"" []	2032958	\N	\N	EFO	4	EFO	bone disease	Isolated craniosynostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:139390	"" []	2032959	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated craniosynostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139390	"" []	4133286	\N	\N	EFO	6	EFO	disease	Isolated craniosynostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:139390	"" []	3183466	\N	\N	EFO	5	EFO	skeletal system disease	Isolated craniosynostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139390	"" []	5181583	\N	\N	EFO	7	EFO	disposition	Isolated craniosynostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139390	"" []	4391327	\N	\N	EFO	6	EFO	disease	Isolated craniosynostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139390	"" []	5996960	\N	\N	EFO	8	EFO	material property	Isolated craniosynostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139390	"" []	6550529	\N	\N	EFO	9	EFO	experimental factor	Isolated craniosynostosis
Orphanet:139393	\N	\N	"" []	Orphanet:139393	"" []	73518	\N	\N	EFO	0	EFO	Syndromic craniosynostosis	Syndromic craniosynostosis
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:139393	"" []	214913	\N	\N	EFO	1	EFO	Craniosynostosis	Syndromic craniosynostosis
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:139393	"" []	568973	\N	\N	EFO	2	EFO	Genetic cranial malformation	Syndromic craniosynostosis
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:139393	"" []	568974	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Syndromic craniosynostosis
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:139393	"" []	1150679	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndromic craniosynostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:139393	"" []	1150680	\N	\N	EFO	3	EFO	Rare genetic bone disease	Syndromic craniosynostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:139393	"" []	1150681	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Syndromic craniosynostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139393	"" []	3183470	\N	\N	EFO	5	EFO	genetic disorder	Syndromic craniosynostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139393	"" []	2032961	\N	\N	EFO	4	EFO	genetic disorder	Syndromic craniosynostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:139393	"" []	2032962	\N	\N	EFO	4	EFO	bone disease	Syndromic craniosynostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:139393	"" []	2032963	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Syndromic craniosynostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139393	"" []	4133287	\N	\N	EFO	6	EFO	disease	Syndromic craniosynostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:139393	"" []	3183469	\N	\N	EFO	5	EFO	skeletal system disease	Syndromic craniosynostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139393	"" []	5181584	\N	\N	EFO	7	EFO	disposition	Syndromic craniosynostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139393	"" []	4391329	\N	\N	EFO	6	EFO	disease	Syndromic craniosynostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139393	"" []	5996961	\N	\N	EFO	8	EFO	material property	Syndromic craniosynostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139393	"" []	6550530	\N	\N	EFO	9	EFO	experimental factor	Syndromic craniosynostosis
Orphanet:139396	\N	\N	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	73519	\N	\N	EFO	0	EFO	X-linked cerebral adrenoleukodystrophy	X-linked cerebral adrenoleukodystrophy
Orphanet:182076	Orphanet:139396	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	214914	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	X-linked cerebral adrenoleukodystrophy
Orphanet:43	Orphanet:139396	\N	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	214915	\N	\N	EFO	1	EFO	X-linked adrenoleukodystrophy	X-linked cerebral adrenoleukodystrophy
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	568975	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked cerebral adrenoleukodystrophy
Orphanet:101960	Orphanet:43	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	568976	\N	\N	EFO	2	EFO	Genetic chronic primary adrenal insufficiency	X-linked cerebral adrenoleukodystrophy
Orphanet:181441	Orphanet:43	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	568977	\N	\N	EFO	2	EFO	Rare disorder with hypergonadotropic hypogonadism	X-linked cerebral adrenoleukodystrophy
Orphanet:183500	Orphanet:43	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	568978	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	X-linked cerebral adrenoleukodystrophy
Orphanet:68356	Orphanet:43	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	568979	\N	\N	EFO	2	EFO	Leukodystrophy	X-linked cerebral adrenoleukodystrophy
Orphanet:68385	Orphanet:43	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	568980	\N	\N	EFO	2	EFO	Neurometabolic disease	X-linked cerebral adrenoleukodystrophy
Orphanet:79188	Orphanet:43	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	568981	\N	\N	EFO	2	EFO	Peroxisomal beta-oxidation disorder	X-linked cerebral adrenoleukodystrophy
Orphanet:98543	Orphanet:43	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	568982	\N	\N	EFO	2	EFO	Metabolic disease with dementia	X-linked cerebral adrenoleukodystrophy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	1150682	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked cerebral adrenoleukodystrophy
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	1150683	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	X-linked cerebral adrenoleukodystrophy
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	1150684	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	X-linked cerebral adrenoleukodystrophy
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	1150685	\N	\N	EFO	3	EFO	Rare male infertility due to testicular endocrine disorder	X-linked cerebral adrenoleukodystrophy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	1150686	\N	\N	EFO	3	EFO	neurodegenerative disease	X-linked cerebral adrenoleukodystrophy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	1150687	\N	\N	EFO	3	EFO	brain disease	X-linked cerebral adrenoleukodystrophy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	1150688	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked cerebral adrenoleukodystrophy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	1150689	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked cerebral adrenoleukodystrophy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	1150690	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked cerebral adrenoleukodystrophy
Orphanet:309810	Orphanet:79188	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	1150691	\N	\N	EFO	3	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	X-linked cerebral adrenoleukodystrophy
Orphanet:158124	Orphanet:98543	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	1150692	\N	\N	EFO	3	EFO	Genetic dementia	X-linked cerebral adrenoleukodystrophy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	2032964	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked cerebral adrenoleukodystrophy
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	2032965	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	X-linked cerebral adrenoleukodystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	3183472	\N	\N	EFO	5	EFO	genetic disorder	X-linked cerebral adrenoleukodystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	3183473	\N	\N	EFO	5	EFO	endocrine system disease	X-linked cerebral adrenoleukodystrophy
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	2032968	\N	\N	EFO	4	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	X-linked cerebral adrenoleukodystrophy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	2032969	\N	\N	EFO	4	EFO	nervous system disease	X-linked cerebral adrenoleukodystrophy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	3183479	\N	\N	EFO	5	EFO	nervous system disease	X-linked cerebral adrenoleukodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	4391330	\N	\N	EFO	6	EFO	genetic disorder	X-linked cerebral adrenoleukodystrophy
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	2032972	\N	\N	EFO	4	EFO	Peroxisomal disease	X-linked cerebral adrenoleukodystrophy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	2032973	\N	\N	EFO	4	EFO	brain disease	X-linked cerebral adrenoleukodystrophy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	2032974	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked cerebral adrenoleukodystrophy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	3183471	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked cerebral adrenoleukodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	6148155	\N	\N	EFO	8	EFO	disease	X-linked cerebral adrenoleukodystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	4133289	\N	\N	EFO	6	EFO	disease	X-linked cerebral adrenoleukodystrophy
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	3183476	\N	\N	EFO	5	EFO	Rare genetic male infertility	X-linked cerebral adrenoleukodystrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	4133290	\N	\N	EFO	6	EFO	disease	X-linked cerebral adrenoleukodystrophy
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	3183478	\N	\N	EFO	5	EFO	Inborn errors of metabolism	X-linked cerebral adrenoleukodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	6409835	\N	\N	EFO	9	EFO	disposition	X-linked cerebral adrenoleukodystrophy
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	4391332	\N	\N	EFO	6	EFO	Genetic infertility	X-linked cerebral adrenoleukodystrophy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	4391333	\N	\N	EFO	6	EFO	genetic disorder	X-linked cerebral adrenoleukodystrophy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	4391334	\N	\N	EFO	6	EFO	metabolic disease	X-linked cerebral adrenoleukodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	6807692	\N	\N	EFO	10	EFO	material property	X-linked cerebral adrenoleukodystrophy
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	5410472	\N	\N	EFO	7	EFO	genetic disorder	X-linked cerebral adrenoleukodystrophy
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	5410473	\N	\N	EFO	7	EFO	reproductive system disease	X-linked cerebral adrenoleukodystrophy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	5410474	\N	\N	EFO	7	EFO	disease	X-linked cerebral adrenoleukodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	7048544	\N	\N	EFO	11	EFO	experimental factor	X-linked cerebral adrenoleukodystrophy
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139396	"X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." []	6148156	\N	\N	EFO	8	EFO	disease	X-linked cerebral adrenoleukodystrophy
Orphanet:139399	\N	\N	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	73520	\N	\N	EFO	0	EFO	Adrenomyeloneuropathy	Adrenomyeloneuropathy
Orphanet:207018	Orphanet:139399	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	214916	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Adrenomyeloneuropathy
Orphanet:43	Orphanet:139399	\N	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	214917	\N	\N	EFO	1	EFO	X-linked adrenoleukodystrophy	Adrenomyeloneuropathy
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	568983	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Adrenomyeloneuropathy
Orphanet:101960	Orphanet:43	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	568984	\N	\N	EFO	2	EFO	Genetic chronic primary adrenal insufficiency	Adrenomyeloneuropathy
Orphanet:181441	Orphanet:43	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	568985	\N	\N	EFO	2	EFO	Rare disorder with hypergonadotropic hypogonadism	Adrenomyeloneuropathy
Orphanet:183500	Orphanet:43	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	568986	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Adrenomyeloneuropathy
Orphanet:68356	Orphanet:43	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	568987	\N	\N	EFO	2	EFO	Leukodystrophy	Adrenomyeloneuropathy
Orphanet:68385	Orphanet:43	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	568988	\N	\N	EFO	2	EFO	Neurometabolic disease	Adrenomyeloneuropathy
Orphanet:79188	Orphanet:43	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	568989	\N	\N	EFO	2	EFO	Peroxisomal beta-oxidation disorder	Adrenomyeloneuropathy
Orphanet:98543	Orphanet:43	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	568990	\N	\N	EFO	2	EFO	Metabolic disease with dementia	Adrenomyeloneuropathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	1150693	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Adrenomyeloneuropathy
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	1150694	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Adrenomyeloneuropathy
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	1150695	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Adrenomyeloneuropathy
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	1150696	\N	\N	EFO	3	EFO	Rare male infertility due to testicular endocrine disorder	Adrenomyeloneuropathy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	1150697	\N	\N	EFO	3	EFO	neurodegenerative disease	Adrenomyeloneuropathy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	1150698	\N	\N	EFO	3	EFO	brain disease	Adrenomyeloneuropathy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	1150699	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Adrenomyeloneuropathy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	1150700	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Adrenomyeloneuropathy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	1150701	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Adrenomyeloneuropathy
Orphanet:309810	Orphanet:79188	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	1150702	\N	\N	EFO	3	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	Adrenomyeloneuropathy
Orphanet:158124	Orphanet:98543	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	1150703	\N	\N	EFO	3	EFO	Genetic dementia	Adrenomyeloneuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	2032975	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Adrenomyeloneuropathy
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	2032976	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Adrenomyeloneuropathy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	3183482	\N	\N	EFO	5	EFO	genetic disorder	Adrenomyeloneuropathy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	3183483	\N	\N	EFO	5	EFO	endocrine system disease	Adrenomyeloneuropathy
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	2032979	\N	\N	EFO	4	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Adrenomyeloneuropathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	2032980	\N	\N	EFO	4	EFO	nervous system disease	Adrenomyeloneuropathy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	3183489	\N	\N	EFO	5	EFO	nervous system disease	Adrenomyeloneuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	3183481	\N	\N	EFO	5	EFO	genetic disorder	Adrenomyeloneuropathy
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	2032983	\N	\N	EFO	4	EFO	Peroxisomal disease	Adrenomyeloneuropathy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	2032984	\N	\N	EFO	4	EFO	brain disease	Adrenomyeloneuropathy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	2032985	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Adrenomyeloneuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	6148158	\N	\N	EFO	8	EFO	disease	Adrenomyeloneuropathy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	4133292	\N	\N	EFO	6	EFO	disease	Adrenomyeloneuropathy
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	3183486	\N	\N	EFO	5	EFO	Rare genetic male infertility	Adrenomyeloneuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	4133293	\N	\N	EFO	6	EFO	disease	Adrenomyeloneuropathy
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	3183488	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Adrenomyeloneuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	6409836	\N	\N	EFO	9	EFO	disposition	Adrenomyeloneuropathy
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	4391336	\N	\N	EFO	6	EFO	Genetic infertility	Adrenomyeloneuropathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	4391337	\N	\N	EFO	6	EFO	genetic disorder	Adrenomyeloneuropathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	4391338	\N	\N	EFO	6	EFO	metabolic disease	Adrenomyeloneuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	6807693	\N	\N	EFO	10	EFO	material property	Adrenomyeloneuropathy
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	5410476	\N	\N	EFO	7	EFO	genetic disorder	Adrenomyeloneuropathy
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	5410477	\N	\N	EFO	7	EFO	reproductive system disease	Adrenomyeloneuropathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	5410479	\N	\N	EFO	7	EFO	disease	Adrenomyeloneuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	7048545	\N	\N	EFO	11	EFO	experimental factor	Adrenomyeloneuropathy
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139399	"Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." []	6148159	\N	\N	EFO	8	EFO	disease	Adrenomyeloneuropathy
Orphanet:1394	\N	\N	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	73521	\N	\N	EFO	0	EFO	Cerebro-facio-thoracic dysplasia	Cerebro-facio-thoracic dysplasia
Orphanet:102283	Orphanet:1394	\N	"" []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	214918	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cerebro-facio-thoracic dysplasia
Orphanet:93454	Orphanet:1394	\N	"" []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	214919	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Cerebro-facio-thoracic dysplasia
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	568991	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cerebro-facio-thoracic dysplasia
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	568992	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Cerebro-facio-thoracic dysplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	1150704	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cerebro-facio-thoracic dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	1150705	\N	\N	EFO	3	EFO	Rare genetic bone disease	Cerebro-facio-thoracic dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	1150706	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Cerebro-facio-thoracic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	3183492	\N	\N	EFO	5	EFO	genetic disorder	Cerebro-facio-thoracic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	2032987	\N	\N	EFO	4	EFO	genetic disorder	Cerebro-facio-thoracic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	2032988	\N	\N	EFO	4	EFO	bone disease	Cerebro-facio-thoracic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	2032989	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cerebro-facio-thoracic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	4133294	\N	\N	EFO	6	EFO	disease	Cerebro-facio-thoracic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	3183491	\N	\N	EFO	5	EFO	skeletal system disease	Cerebro-facio-thoracic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	5181587	\N	\N	EFO	7	EFO	disposition	Cerebro-facio-thoracic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	4391340	\N	\N	EFO	6	EFO	disease	Cerebro-facio-thoracic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	5996964	\N	\N	EFO	8	EFO	material property	Cerebro-facio-thoracic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1394	"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." []	6550533	\N	\N	EFO	9	EFO	experimental factor	Cerebro-facio-thoracic dysplasia
Orphanet:139406	\N	\N	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	73522	\N	\N	EFO	0	EFO	Encephalopathy due to prosaposin deficiency	Encephalopathy due to prosaposin deficiency
Orphanet:68385	Orphanet:139406	\N	"" []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	214920	\N	\N	EFO	1	EFO	Neurometabolic disease	Encephalopathy due to prosaposin deficiency
Orphanet:79225	Orphanet:139406	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	214921	\N	\N	EFO	1	EFO	Sphingolipidosis	Encephalopathy due to prosaposin deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	568993	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Encephalopathy due to prosaposin deficiency
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	568994	\N	\N	EFO	2	EFO	Lysosomal disease	Encephalopathy due to prosaposin deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	1150707	\N	\N	EFO	3	EFO	genetic disorder	Encephalopathy due to prosaposin deficiency
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	1150708	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Encephalopathy due to prosaposin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	3183494	\N	\N	EFO	5	EFO	disease	Encephalopathy due to prosaposin deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	2032991	\N	\N	EFO	4	EFO	genetic disorder	Encephalopathy due to prosaposin deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	2032992	\N	\N	EFO	4	EFO	metabolic disease	Encephalopathy due to prosaposin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	4133295	\N	\N	EFO	6	EFO	disposition	Encephalopathy due to prosaposin deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	3183495	\N	\N	EFO	5	EFO	disease	Encephalopathy due to prosaposin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	5181588	\N	\N	EFO	7	EFO	material property	Encephalopathy due to prosaposin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139406	"Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." []	5996965	\N	\N	EFO	8	EFO	experimental factor	Encephalopathy due to prosaposin deficiency
Orphanet:139411	\N	\N	"" []	Orphanet:139411	"" []	73523	\N	\N	EFO	0	EFO	Carney triad	Carney triad
Orphanet:100094	Orphanet:139411	\N	"" []	Orphanet:139411	"" []	214922	\N	\N	EFO	1	EFO	Multiple polyglandular tumor	Carney triad
Orphanet:183643	Orphanet:100094	\N	"" []	Orphanet:139411	"" []	568995	\N	\N	EFO	2	EFO	Genetic polyendocrinopathy	Carney triad
Orphanet:271847	Orphanet:100094	\N	"" []	Orphanet:139411	"" []	568996	\N	\N	EFO	2	EFO	Genetic endocrine tumor	Carney triad
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:139411	"" []	1150709	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Carney triad
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:139411	"" []	1150710	\N	\N	EFO	3	EFO	endocrine neoplasm	Carney triad
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:139411	"" []	1150711	\N	\N	EFO	3	EFO	Rare genetic tumor	Carney triad
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139411	"" []	2032993	\N	\N	EFO	4	EFO	genetic disorder	Carney triad
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:139411	"" []	2032994	\N	\N	EFO	4	EFO	endocrine system disease	Carney triad
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:139411	"" []	2032995	\N	\N	EFO	4	EFO	neoplasm	Carney triad
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:139411	"" []	2032996	\N	\N	EFO	4	EFO	endocrine system disease	Carney triad
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139411	"" []	2032997	\N	\N	EFO	4	EFO	genetic disorder	Carney triad
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:139411	"" []	2032998	\N	\N	EFO	4	EFO	neoplasm	Carney triad
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139411	"" []	3183496	\N	\N	EFO	5	EFO	disease	Carney triad
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139411	"" []	3183497	\N	\N	EFO	5	EFO	disease	Carney triad
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139411	"" []	3183498	\N	\N	EFO	5	EFO	disease	Carney triad
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139411	"" []	4391342	\N	\N	EFO	6	EFO	disposition	Carney triad
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139411	"" []	5410482	\N	\N	EFO	7	EFO	material property	Carney triad
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139411	"" []	6148161	\N	\N	EFO	8	EFO	experimental factor	Carney triad
Orphanet:139441	\N	\N	"" []	Orphanet:139441	"" []	73524	\N	\N	EFO	0	EFO	Hypomyelination with atrophy of basal ganglia and cerebellum	Hypomyelination with atrophy of basal ganglia and cerebellum
Orphanet:68356	Orphanet:139441	\N	"" []	Orphanet:139441	"" []	214923	\N	\N	EFO	1	EFO	Leukodystrophy	Hypomyelination with atrophy of basal ganglia and cerebellum
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:139441	"" []	568997	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hypomyelination with atrophy of basal ganglia and cerebellum
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139441	"" []	1150712	\N	\N	EFO	3	EFO	genetic disorder	Hypomyelination with atrophy of basal ganglia and cerebellum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139441	"" []	2032999	\N	\N	EFO	4	EFO	disease	Hypomyelination with atrophy of basal ganglia and cerebellum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139441	"" []	3183499	\N	\N	EFO	5	EFO	disposition	Hypomyelination with atrophy of basal ganglia and cerebellum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139441	"" []	4391343	\N	\N	EFO	6	EFO	material property	Hypomyelination with atrophy of basal ganglia and cerebellum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139441	"" []	5410483	\N	\N	EFO	7	EFO	experimental factor	Hypomyelination with atrophy of basal ganglia and cerebellum
Orphanet:139444	\N	\N	"" []	Orphanet:139444	"" []	73525	\N	\N	EFO	0	EFO	Leukoencephalopathy with bilateral anterior temporal lobe cysts	Leukoencephalopathy with bilateral anterior temporal lobe cysts
Orphanet:68356	Orphanet:139444	\N	"" []	Orphanet:139444	"" []	214924	\N	\N	EFO	1	EFO	Leukodystrophy	Leukoencephalopathy with bilateral anterior temporal lobe cysts
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:139444	"" []	568998	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Leukoencephalopathy with bilateral anterior temporal lobe cysts
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139444	"" []	1150713	\N	\N	EFO	3	EFO	genetic disorder	Leukoencephalopathy with bilateral anterior temporal lobe cysts
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139444	"" []	2033000	\N	\N	EFO	4	EFO	disease	Leukoencephalopathy with bilateral anterior temporal lobe cysts
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139444	"" []	3183500	\N	\N	EFO	5	EFO	disposition	Leukoencephalopathy with bilateral anterior temporal lobe cysts
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139444	"" []	4391344	\N	\N	EFO	6	EFO	material property	Leukoencephalopathy with bilateral anterior temporal lobe cysts
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139444	"" []	5410484	\N	\N	EFO	7	EFO	experimental factor	Leukoencephalopathy with bilateral anterior temporal lobe cysts
Orphanet:139447	\N	\N	"" []	Orphanet:139447	"" []	73526	\N	\N	EFO	0	EFO	Progressive cavitating leukoencephalopathy	Progressive cavitating leukoencephalopathy
Orphanet:68356	Orphanet:139447	\N	"" []	Orphanet:139447	"" []	214925	\N	\N	EFO	1	EFO	Leukodystrophy	Progressive cavitating leukoencephalopathy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:139447	"" []	568999	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Progressive cavitating leukoencephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139447	"" []	1150714	\N	\N	EFO	3	EFO	genetic disorder	Progressive cavitating leukoencephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139447	"" []	2033001	\N	\N	EFO	4	EFO	disease	Progressive cavitating leukoencephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139447	"" []	3183501	\N	\N	EFO	5	EFO	disposition	Progressive cavitating leukoencephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139447	"" []	4391345	\N	\N	EFO	6	EFO	material property	Progressive cavitating leukoencephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139447	"" []	5410485	\N	\N	EFO	7	EFO	experimental factor	Progressive cavitating leukoencephalopathy
Orphanet:139450	\N	\N	"" []	Orphanet:139450	"" []	73527	\N	\N	EFO	0	EFO	Microtia - eye coloboma - imperforation of the nasolacrimal duct	Microtia - eye coloboma - imperforation of the nasolacrimal duct
Orphanet:108987	Orphanet:139450	\N	"" []	Orphanet:139450	"" []	214926	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Microtia - eye coloboma - imperforation of the nasolacrimal duct
Orphanet:98558	Orphanet:139450	\N	"" []	Orphanet:139450	"" []	214927	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	Microtia - eye coloboma - imperforation of the nasolacrimal duct
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:139450	"" []	569000	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Microtia - eye coloboma - imperforation of the nasolacrimal duct
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:139450	"" []	569001	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Microtia - eye coloboma - imperforation of the nasolacrimal duct
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:139450	"" []	1150715	\N	\N	EFO	3	EFO	Rare genetic eye disease	Microtia - eye coloboma - imperforation of the nasolacrimal duct
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:139450	"" []	1150716	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microtia - eye coloboma - imperforation of the nasolacrimal duct
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139450	"" []	2033002	\N	\N	EFO	4	EFO	genetic disorder	Microtia - eye coloboma - imperforation of the nasolacrimal duct
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:139450	"" []	2033003	\N	\N	EFO	4	EFO	eye disease	Microtia - eye coloboma - imperforation of the nasolacrimal duct
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139450	"" []	2033004	\N	\N	EFO	4	EFO	genetic disorder	Microtia - eye coloboma - imperforation of the nasolacrimal duct
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139450	"" []	3183502	\N	\N	EFO	5	EFO	disease	Microtia - eye coloboma - imperforation of the nasolacrimal duct
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139450	"" []	3183503	\N	\N	EFO	5	EFO	disease	Microtia - eye coloboma - imperforation of the nasolacrimal duct
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139450	"" []	4391346	\N	\N	EFO	6	EFO	disposition	Microtia - eye coloboma - imperforation of the nasolacrimal duct
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139450	"" []	5410486	\N	\N	EFO	7	EFO	material property	Microtia - eye coloboma - imperforation of the nasolacrimal duct
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139450	"" []	6148162	\N	\N	EFO	8	EFO	experimental factor	Microtia - eye coloboma - imperforation of the nasolacrimal duct
Orphanet:139455	\N	\N	"Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." []	Orphanet:139455	"Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." []	73528	\N	\N	EFO	0	EFO	Autosomal recessive bestrophinopathy	Autosomal recessive bestrophinopathy
Orphanet:71862	Orphanet:139455	\N	"" []	Orphanet:139455	"Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." []	214928	\N	\N	EFO	1	EFO	Retinal dystrophy	Autosomal recessive bestrophinopathy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:139455	"Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." []	569002	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Autosomal recessive bestrophinopathy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:139455	"Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." []	1150717	\N	\N	EFO	3	EFO	Rare genetic eye disease	Autosomal recessive bestrophinopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139455	"Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." []	2033005	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive bestrophinopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:139455	"Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." []	2033006	\N	\N	EFO	4	EFO	eye disease	Autosomal recessive bestrophinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139455	"Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." []	3183504	\N	\N	EFO	5	EFO	disease	Autosomal recessive bestrophinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139455	"Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." []	3183505	\N	\N	EFO	5	EFO	disease	Autosomal recessive bestrophinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139455	"Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." []	4391347	\N	\N	EFO	6	EFO	disposition	Autosomal recessive bestrophinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139455	"Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." []	5410487	\N	\N	EFO	7	EFO	material property	Autosomal recessive bestrophinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139455	"Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." []	6148163	\N	\N	EFO	8	EFO	experimental factor	Autosomal recessive bestrophinopathy
Orphanet:139466	\N	\N	"" []	Orphanet:139466	"" []	73529	\N	\N	EFO	0	EFO	SERKAL syndrome	SERKAL syndrome
Orphanet:325109	Orphanet:139466	\N	"" []	Orphanet:139466	"" []	214929	\N	\N	EFO	1	EFO	Syndrome with 46,XX disorder of sex development	SERKAL syndrome
Orphanet:325697	Orphanet:325109	\N	"" []	Orphanet:139466	"" []	569003	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	SERKAL syndrome
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:139466	"" []	1150718	\N	\N	EFO	3	EFO	Genetic disorder of sex development	SERKAL syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:139466	"" []	2033007	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	SERKAL syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:139466	"" []	2033008	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	SERKAL syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:139466	"" []	2033009	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	SERKAL syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139466	"" []	3183506	\N	\N	EFO	5	EFO	genetic disorder	SERKAL syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139466	"" []	3183507	\N	\N	EFO	5	EFO	genetic disorder	SERKAL syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:139466	"" []	3183508	\N	\N	EFO	5	EFO	endocrine system disease	SERKAL syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139466	"" []	3183509	\N	\N	EFO	5	EFO	genetic disorder	SERKAL syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139466	"" []	4391348	\N	\N	EFO	6	EFO	disease	SERKAL syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139466	"" []	4391349	\N	\N	EFO	6	EFO	disease	SERKAL syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139466	"" []	5410488	\N	\N	EFO	7	EFO	disposition	SERKAL syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139466	"" []	6148164	\N	\N	EFO	8	EFO	material property	SERKAL syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139466	"" []	6632084	\N	\N	EFO	9	EFO	experimental factor	SERKAL syndrome
Orphanet:139471	\N	\N	"" []	Orphanet:139471	"" []	73530	\N	\N	EFO	0	EFO	Microphthalmia with brain and digit anomalies	Microphthalmia with brain and digit anomalies
Orphanet:108987	Orphanet:139471	\N	"" []	Orphanet:139471	"" []	214930	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Microphthalmia with brain and digit anomalies
Orphanet:202948	Orphanet:139471	\N	"" []	Orphanet:139471	"" []	214931	\N	\N	EFO	1	EFO	Syndromic microphthalmia	Microphthalmia with brain and digit anomalies
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:139471	"" []	569004	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Microphthalmia with brain and digit anomalies
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:139471	"" []	569005	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Microphthalmia with brain and digit anomalies
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:139471	"" []	3183512	\N	\N	EFO	5	EFO	Rare genetic eye disease	Microphthalmia with brain and digit anomalies
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:139471	"" []	3183513	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia with brain and digit anomalies
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:139471	"" []	1150721	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Microphthalmia with brain and digit anomalies
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139471	"" []	4066847	\N	\N	EFO	6	EFO	genetic disorder	Microphthalmia with brain and digit anomalies
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:139471	"" []	4066848	\N	\N	EFO	6	EFO	eye disease	Microphthalmia with brain and digit anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139471	"" []	4066849	\N	\N	EFO	6	EFO	genetic disorder	Microphthalmia with brain and digit anomalies
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:139471	"" []	2033013	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Microphthalmia with brain and digit anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139471	"" []	5059600	\N	\N	EFO	7	EFO	disease	Microphthalmia with brain and digit anomalies
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139471	"" []	5059601	\N	\N	EFO	7	EFO	disease	Microphthalmia with brain and digit anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139471	"" []	5876767	\N	\N	EFO	8	EFO	disposition	Microphthalmia with brain and digit anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139471	"" []	6469979	\N	\N	EFO	9	EFO	material property	Microphthalmia with brain and digit anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139471	"" []	6848285	\N	\N	EFO	10	EFO	experimental factor	Microphthalmia with brain and digit anomalies
Orphanet:139474	\N	\N	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	73531	\N	\N	EFO	0	EFO	17q11.2 microduplication syndrome	17q11.2 microduplication syndrome
Orphanet:183763	Orphanet:139474	\N	"" []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	214932	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	17q11.2 microduplication syndrome
Orphanet:262968	Orphanet:139474	\N	"" []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	214933	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 17	17q11.2 microduplication syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	569006	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	17q11.2 microduplication syndrome
Orphanet:262677	Orphanet:262968	\N	"" []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	569007	\N	\N	EFO	2	EFO	Partial duplication of chromosome 17	17q11.2 microduplication syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	1150722	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	17q11.2 microduplication syndrome
Orphanet:98132	Orphanet:262677	\N	"" []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	1150723	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	17q11.2 microduplication syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	2033014	\N	\N	EFO	4	EFO	genetic disorder	17q11.2 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	2033015	\N	\N	EFO	4	EFO	Autosomal trisomy	17q11.2 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	6148167	\N	\N	EFO	8	EFO	disease	17q11.2 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	3183515	\N	\N	EFO	5	EFO	Autosomal anomaly	17q11.2 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	6409837	\N	\N	EFO	9	EFO	disposition	17q11.2 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	4391352	\N	\N	EFO	6	EFO	Chromosomal anomaly	17q11.2 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	6807694	\N	\N	EFO	10	EFO	material property	17q11.2 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	5410491	\N	\N	EFO	7	EFO	genetic disorder	17q11.2 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139474	"17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." []	7048546	\N	\N	EFO	11	EFO	experimental factor	17q11.2 microduplication syndrome
Orphanet:139480	\N	\N	"" []	Orphanet:139480	"" []	73532	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 39	Autosomal recessive spastic paraplegia type 39
Orphanet:100981	Orphanet:139480	\N	"" []	Orphanet:139480	"" []	214934	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 39
Orphanet:352306	Orphanet:139480	\N	"" []	Orphanet:139480	"" []	214935	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Autosomal recessive spastic paraplegia type 39
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:139480	"" []	569008	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 39
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:139480	"" []	569009	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Autosomal recessive spastic paraplegia type 39
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:139480	"" []	1150724	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 39
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:139480	"" []	1150725	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Autosomal recessive spastic paraplegia type 39
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:139480	"" []	2033016	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 39
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:139480	"" []	2033017	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive spastic paraplegia type 39
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:139480	"" []	3183516	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 39
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:139480	"" []	3183517	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 39
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:139480	"" []	3183518	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 39
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139480	"" []	3183519	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 39
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:139480	"" []	3183520	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive spastic paraplegia type 39
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139480	"" []	4391353	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 39
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139480	"" []	4391354	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 39
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139480	"" []	4391355	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 39
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139480	"" []	5410493	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 39
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139480	"" []	4391357	\N	\N	EFO	6	EFO	disease	Autosomal recessive spastic paraplegia type 39
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139480	"" []	5410492	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 39
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139480	"" []	5996966	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 39
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139480	"" []	6550534	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 39
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139480	"" []	6889025	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 39
Orphanet:139485	\N	\N	"" []	Orphanet:139485	"" []	73533	\N	\N	EFO	0	EFO	Autosomal recessive ataxia due to ubiquinone deficiency	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:1172	Orphanet:139485	\N	"" []	Orphanet:139485	"" []	214936	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:35656	Orphanet:139485	\N	"" []	Orphanet:139485	"" []	214937	\N	\N	EFO	1	EFO	Coenzyme Q10 deficiency	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:139485	"" []	569010	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:139485	"" []	569011	\N	\N	EFO	2	EFO	Early-onset ataxia with dementia	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:139485	"" []	569012	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:225703	Orphanet:35656	\N	"" []	Orphanet:139485	"" []	569013	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:2443	Orphanet:35656	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:139485	"" []	569014	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:68385	Orphanet:35656	\N	"" []	Orphanet:139485	"" []	569015	\N	\N	EFO	2	EFO	Neurometabolic disease	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:139485	"" []	1150726	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:139485	"" []	1150727	\N	\N	EFO	3	EFO	Ataxia with dementia	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:139485	"" []	1150728	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:139485	"" []	1150729	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:139485	"" []	1150730	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:139485	"" []	1150731	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139485	"" []	5410497	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:139485	"" []	2033019	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:139485	"" []	2033020	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:139485	"" []	2033021	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:139485	"" []	2033022	\N	\N	EFO	4	EFO	Mitochondrial disease	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139485	"" []	5817477	\N	\N	EFO	8	EFO	disease	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:139485	"" []	3183522	\N	\N	EFO	5	EFO	Genetic dementia	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:139485	"" []	3183523	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:139485	"" []	3183524	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:139485	"" []	3183525	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:139485	"" []	3183526	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:139485	"" []	3183527	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Autosomal recessive ataxia due to ubiquinone deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139485	"" []	6409838	\N	\N	EFO	9	EFO	disposition	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:139485	"" []	4391359	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:139485	"" []	4391360	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:139485	"" []	4391361	\N	\N	EFO	6	EFO	neurodegenerative disease	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:139485	"" []	4391362	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:139485	"" []	4391363	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139485	"" []	4391364	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:139485	"" []	4391365	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139485	"" []	4391366	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:139485	"" []	4391367	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:139485	"" []	4391368	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Autosomal recessive ataxia due to ubiquinone deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139485	"" []	6807695	\N	\N	EFO	10	EFO	material property	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139485	"" []	5410496	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139485	"" []	5410498	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139485	"" []	5410500	\N	\N	EFO	7	EFO	disease	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139485	"" []	5410501	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139485	"" []	5410502	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:139485	"" []	5410503	\N	\N	EFO	7	EFO	metabolic disease	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139485	"" []	7048547	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139485	"" []	6148170	\N	\N	EFO	8	EFO	disease	Autosomal recessive ataxia due to ubiquinone deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139485	"" []	6148171	\N	\N	EFO	8	EFO	disease	Autosomal recessive ataxia due to ubiquinone deficiency
Orphanet:139491	\N	\N	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	73534	\N	\N	EFO	0	EFO	Hemochromatosis type 4	Hemochromatosis type 4
Orphanet:220489	Orphanet:139491	\N	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	214938	\N	\N	EFO	1	EFO	Rare hereditary hemochromatosis	Hemochromatosis type 4
Orphanet:101940	Orphanet:220489	\N	"" []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	569016	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Hemochromatosis type 4
Orphanet:309842	Orphanet:220489	\N	"" []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	569017	\N	\N	EFO	2	EFO	Disorder of iron metabolism and transport	Hemochromatosis type 4
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	1150732	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Hemochromatosis type 4
Orphanet:309836	Orphanet:309842	\N	"" []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	1150733	\N	\N	EFO	3	EFO	Disorder of mineral absorption and transport	Hemochromatosis type 4
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	2033023	\N	\N	EFO	4	EFO	digestive system disease	Hemochromatosis type 4
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	2033024	\N	\N	EFO	4	EFO	genetic disorder	Hemochromatosis type 4
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	2033025	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Hemochromatosis type 4
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	3183528	\N	\N	EFO	5	EFO	disease	Hemochromatosis type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	5410505	\N	\N	EFO	7	EFO	disease	Hemochromatosis type 4
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	3183530	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Hemochromatosis type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	5876769	\N	\N	EFO	8	EFO	disposition	Hemochromatosis type 4
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	4391370	\N	\N	EFO	6	EFO	genetic disorder	Hemochromatosis type 4
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	4391371	\N	\N	EFO	6	EFO	metabolic disease	Hemochromatosis type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	6469981	\N	\N	EFO	9	EFO	material property	Hemochromatosis type 4
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	5410506	\N	\N	EFO	7	EFO	disease	Hemochromatosis type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139491	"Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	6848287	\N	\N	EFO	10	EFO	experimental factor	Hemochromatosis type 4
Orphanet:139507	\N	\N	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	73535	\N	\N	EFO	0	EFO	African iron overload	African iron overload
Orphanet:101940	Orphanet:139507	\N	"" []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	214939	\N	\N	EFO	1	EFO	Rare metabolic liver disease	African iron overload
Orphanet:309842	Orphanet:139507	\N	"" []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	214940	\N	\N	EFO	1	EFO	Disorder of iron metabolism and transport	African iron overload
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	569018	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	African iron overload
Orphanet:309836	Orphanet:309842	\N	"" []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	569019	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	African iron overload
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	1150734	\N	\N	EFO	3	EFO	digestive system disease	African iron overload
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	1150735	\N	\N	EFO	3	EFO	genetic disorder	African iron overload
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	1150736	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	African iron overload
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	2033026	\N	\N	EFO	4	EFO	disease	African iron overload
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	4391373	\N	\N	EFO	6	EFO	disease	African iron overload
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	2033028	\N	\N	EFO	4	EFO	Inborn errors of metabolism	African iron overload
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	5059602	\N	\N	EFO	7	EFO	disposition	African iron overload
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	3183532	\N	\N	EFO	5	EFO	genetic disorder	African iron overload
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	3183533	\N	\N	EFO	5	EFO	metabolic disease	African iron overload
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	5876770	\N	\N	EFO	8	EFO	material property	African iron overload
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	4391374	\N	\N	EFO	6	EFO	disease	African iron overload
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139507	"African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." []	6469982	\N	\N	EFO	9	EFO	experimental factor	African iron overload
Orphanet:139512	\N	\N	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	73536	\N	\N	EFO	0	EFO	Neuropathy with hearing impairment	Neuropathy with hearing impairment
Orphanet:140453	Orphanet:139512	\N	"" []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	214941	\N	\N	EFO	1	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Neuropathy with hearing impairment
Orphanet:90642	Orphanet:139512	\N	"" []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	214942	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Neuropathy with hearing impairment
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	569020	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Neuropathy with hearing impairment
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	569021	\N	\N	EFO	2	EFO	Rare genetic deafness	Neuropathy with hearing impairment
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	1150737	\N	\N	EFO	3	EFO	motor neuron disease	Neuropathy with hearing impairment
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	1150738	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Neuropathy with hearing impairment
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	1150739	\N	\N	EFO	3	EFO	genetic disorder	Neuropathy with hearing impairment
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	1150740	\N	\N	EFO	3	EFO	auditory system disease	Neuropathy with hearing impairment
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	2033029	\N	\N	EFO	4	EFO	neurodegenerative disease	Neuropathy with hearing impairment
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	2033030	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Neuropathy with hearing impairment
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	4391376	\N	\N	EFO	6	EFO	disease	Neuropathy with hearing impairment
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	2033032	\N	\N	EFO	4	EFO	sensory system disease	Neuropathy with hearing impairment
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	3183534	\N	\N	EFO	5	EFO	nervous system disease	Neuropathy with hearing impairment
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	3183535	\N	\N	EFO	5	EFO	genetic disorder	Neuropathy with hearing impairment
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	5059603	\N	\N	EFO	7	EFO	disposition	Neuropathy with hearing impairment
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	3183537	\N	\N	EFO	5	EFO	nervous system disease	Neuropathy with hearing impairment
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	4391375	\N	\N	EFO	6	EFO	disease	Neuropathy with hearing impairment
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	5876771	\N	\N	EFO	8	EFO	material property	Neuropathy with hearing impairment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139512	"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." []	6469983	\N	\N	EFO	9	EFO	experimental factor	Neuropathy with hearing impairment
Orphanet:139515	\N	\N	"" []	Orphanet:139515	"" []	73537	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 4J	Charcot-Marie-Tooth disease type 4J
Orphanet:64749	Orphanet:139515	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:139515	"" []	214943	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4J
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:139515	"" []	569022	\N	\N	EFO	2	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4J
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:139515	"" []	569023	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 4J
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:139515	"" []	1150741	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4J
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:139515	"" []	1150742	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4J
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:139515	"" []	2033033	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 4J
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:139515	"" []	2033034	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4J
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139515	"" []	3183539	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 4J
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:139515	"" []	3183538	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 4J
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139515	"" []	4133296	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 4J
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139515	"" []	4391378	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 4J
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139515	"" []	5181589	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4J
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139515	"" []	5410509	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4J
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139515	"" []	5996967	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 4J
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139515	"" []	6550535	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 4J
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139515	"" []	6889026	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 4J
Orphanet:139518	\N	\N	"" []	Orphanet:139518	"" []	73538	\N	\N	EFO	0	EFO	Distal hereditary motor neuropathy type 1	Distal hereditary motor neuropathy type 1
Orphanet:140465	Orphanet:139518	\N	"" []	Orphanet:139518	"" []	214944	\N	\N	EFO	1	EFO	Autosomal dominant distal hereditary motor neuropathy	Distal hereditary motor neuropathy type 1
Orphanet:206713	Orphanet:140465	\N	"" []	Orphanet:139518	"" []	569024	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	Distal hereditary motor neuropathy type 1
Orphanet:53739	Orphanet:140465	\N	"" []	Orphanet:139518	"" []	569025	\N	\N	EFO	2	EFO	Distal hereditary motor neuropathy	Distal hereditary motor neuropathy type 1
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:139518	"" []	1150743	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Distal hereditary motor neuropathy type 1
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:139518	"" []	1150744	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Distal hereditary motor neuropathy type 1
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:139518	"" []	2033036	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal hereditary motor neuropathy type 1
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139518	"" []	2033037	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Distal hereditary motor neuropathy type 1
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:139518	"" []	3183541	\N	\N	EFO	5	EFO	muscular disease	Distal hereditary motor neuropathy type 1
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:139518	"" []	3183542	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal hereditary motor neuropathy type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139518	"" []	4391381	\N	\N	EFO	6	EFO	genetic disorder	Distal hereditary motor neuropathy type 1
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:139518	"" []	4391380	\N	\N	EFO	6	EFO	skeletal system disease	Distal hereditary motor neuropathy type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139518	"" []	5181590	\N	\N	EFO	7	EFO	disease	Distal hereditary motor neuropathy type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139518	"" []	5410511	\N	\N	EFO	7	EFO	disease	Distal hereditary motor neuropathy type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139518	"" []	5996968	\N	\N	EFO	8	EFO	disposition	Distal hereditary motor neuropathy type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139518	"" []	6550536	\N	\N	EFO	9	EFO	material property	Distal hereditary motor neuropathy type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139518	"" []	6889027	\N	\N	EFO	10	EFO	experimental factor	Distal hereditary motor neuropathy type 1
Orphanet:139525	\N	\N	"" []	Orphanet:139525	"" []	73539	\N	\N	EFO	0	EFO	Distal hereditary motor neuropathy type 2	Distal hereditary motor neuropathy type 2
Orphanet:140465	Orphanet:139525	\N	"" []	Orphanet:139525	"" []	214945	\N	\N	EFO	1	EFO	Autosomal dominant distal hereditary motor neuropathy	Distal hereditary motor neuropathy type 2
Orphanet:206713	Orphanet:140465	\N	"" []	Orphanet:139525	"" []	569026	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	Distal hereditary motor neuropathy type 2
Orphanet:53739	Orphanet:140465	\N	"" []	Orphanet:139525	"" []	569027	\N	\N	EFO	2	EFO	Distal hereditary motor neuropathy	Distal hereditary motor neuropathy type 2
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:139525	"" []	1150745	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Distal hereditary motor neuropathy type 2
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:139525	"" []	1150746	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Distal hereditary motor neuropathy type 2
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:139525	"" []	2033038	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal hereditary motor neuropathy type 2
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139525	"" []	2033039	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Distal hereditary motor neuropathy type 2
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:139525	"" []	3183544	\N	\N	EFO	5	EFO	muscular disease	Distal hereditary motor neuropathy type 2
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:139525	"" []	3183545	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal hereditary motor neuropathy type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139525	"" []	4391384	\N	\N	EFO	6	EFO	genetic disorder	Distal hereditary motor neuropathy type 2
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:139525	"" []	4391383	\N	\N	EFO	6	EFO	skeletal system disease	Distal hereditary motor neuropathy type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139525	"" []	5181591	\N	\N	EFO	7	EFO	disease	Distal hereditary motor neuropathy type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139525	"" []	5410513	\N	\N	EFO	7	EFO	disease	Distal hereditary motor neuropathy type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139525	"" []	5996969	\N	\N	EFO	8	EFO	disposition	Distal hereditary motor neuropathy type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139525	"" []	6550537	\N	\N	EFO	9	EFO	material property	Distal hereditary motor neuropathy type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139525	"" []	6889028	\N	\N	EFO	10	EFO	experimental factor	Distal hereditary motor neuropathy type 2
Orphanet:139536	\N	\N	"" []	Orphanet:139536	"" []	73540	\N	\N	EFO	0	EFO	Distal hereditary motor neuropathy type 5	Distal hereditary motor neuropathy type 5
Orphanet:140465	Orphanet:139536	\N	"" []	Orphanet:139536	"" []	214946	\N	\N	EFO	1	EFO	Autosomal dominant distal hereditary motor neuropathy	Distal hereditary motor neuropathy type 5
Orphanet:206713	Orphanet:140465	\N	"" []	Orphanet:139536	"" []	569028	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	Distal hereditary motor neuropathy type 5
Orphanet:53739	Orphanet:140465	\N	"" []	Orphanet:139536	"" []	569029	\N	\N	EFO	2	EFO	Distal hereditary motor neuropathy	Distal hereditary motor neuropathy type 5
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:139536	"" []	1150747	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Distal hereditary motor neuropathy type 5
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:139536	"" []	1150748	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Distal hereditary motor neuropathy type 5
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:139536	"" []	2033040	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal hereditary motor neuropathy type 5
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139536	"" []	2033041	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Distal hereditary motor neuropathy type 5
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:139536	"" []	3183547	\N	\N	EFO	5	EFO	muscular disease	Distal hereditary motor neuropathy type 5
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:139536	"" []	3183548	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal hereditary motor neuropathy type 5
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139536	"" []	4391387	\N	\N	EFO	6	EFO	genetic disorder	Distal hereditary motor neuropathy type 5
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:139536	"" []	4391386	\N	\N	EFO	6	EFO	skeletal system disease	Distal hereditary motor neuropathy type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139536	"" []	5181592	\N	\N	EFO	7	EFO	disease	Distal hereditary motor neuropathy type 5
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139536	"" []	5410515	\N	\N	EFO	7	EFO	disease	Distal hereditary motor neuropathy type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139536	"" []	5996970	\N	\N	EFO	8	EFO	disposition	Distal hereditary motor neuropathy type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139536	"" []	6550538	\N	\N	EFO	9	EFO	material property	Distal hereditary motor neuropathy type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139536	"" []	6889029	\N	\N	EFO	10	EFO	experimental factor	Distal hereditary motor neuropathy type 5
Orphanet:139547	\N	\N	"" []	Orphanet:139547	"" []	73541	\N	\N	EFO	0	EFO	Distal spinal muscular atrophy type 3	Distal spinal muscular atrophy type 3
Orphanet:140468	Orphanet:139547	\N	"" []	Orphanet:139547	"" []	214947	\N	\N	EFO	1	EFO	Autosomal recessive distal hereditary motor neuropathy	Distal spinal muscular atrophy type 3
Orphanet:206713	Orphanet:140468	\N	"" []	Orphanet:139547	"" []	569030	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	Distal spinal muscular atrophy type 3
Orphanet:53739	Orphanet:140468	\N	"" []	Orphanet:139547	"" []	569031	\N	\N	EFO	2	EFO	Distal hereditary motor neuropathy	Distal spinal muscular atrophy type 3
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:139547	"" []	1150749	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Distal spinal muscular atrophy type 3
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:139547	"" []	1150750	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Distal spinal muscular atrophy type 3
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:139547	"" []	2033042	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal spinal muscular atrophy type 3
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139547	"" []	2033043	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Distal spinal muscular atrophy type 3
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:139547	"" []	3183550	\N	\N	EFO	5	EFO	muscular disease	Distal spinal muscular atrophy type 3
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:139547	"" []	3183551	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal spinal muscular atrophy type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139547	"" []	4391390	\N	\N	EFO	6	EFO	genetic disorder	Distal spinal muscular atrophy type 3
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:139547	"" []	4391389	\N	\N	EFO	6	EFO	skeletal system disease	Distal spinal muscular atrophy type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139547	"" []	5181593	\N	\N	EFO	7	EFO	disease	Distal spinal muscular atrophy type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139547	"" []	5410517	\N	\N	EFO	7	EFO	disease	Distal spinal muscular atrophy type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139547	"" []	5996971	\N	\N	EFO	8	EFO	disposition	Distal spinal muscular atrophy type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139547	"" []	6550539	\N	\N	EFO	9	EFO	material property	Distal spinal muscular atrophy type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139547	"" []	6889030	\N	\N	EFO	10	EFO	experimental factor	Distal spinal muscular atrophy type 3
Orphanet:139552	\N	\N	"" []	Orphanet:139552	"" []	73542	\N	\N	EFO	0	EFO	Distal hereditary motor neuropathy, Jerash type	Distal hereditary motor neuropathy, Jerash type
Orphanet:140468	Orphanet:139552	\N	"" []	Orphanet:139552	"" []	214948	\N	\N	EFO	1	EFO	Autosomal recessive distal hereditary motor neuropathy	Distal hereditary motor neuropathy, Jerash type
Orphanet:206713	Orphanet:140468	\N	"" []	Orphanet:139552	"" []	569032	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	Distal hereditary motor neuropathy, Jerash type
Orphanet:53739	Orphanet:140468	\N	"" []	Orphanet:139552	"" []	569033	\N	\N	EFO	2	EFO	Distal hereditary motor neuropathy	Distal hereditary motor neuropathy, Jerash type
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:139552	"" []	1150751	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Distal hereditary motor neuropathy, Jerash type
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:139552	"" []	1150752	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Distal hereditary motor neuropathy, Jerash type
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:139552	"" []	2033044	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal hereditary motor neuropathy, Jerash type
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139552	"" []	2033045	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Distal hereditary motor neuropathy, Jerash type
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:139552	"" []	3183553	\N	\N	EFO	5	EFO	muscular disease	Distal hereditary motor neuropathy, Jerash type
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:139552	"" []	3183554	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal hereditary motor neuropathy, Jerash type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139552	"" []	4391393	\N	\N	EFO	6	EFO	genetic disorder	Distal hereditary motor neuropathy, Jerash type
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:139552	"" []	4391392	\N	\N	EFO	6	EFO	skeletal system disease	Distal hereditary motor neuropathy, Jerash type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139552	"" []	5181594	\N	\N	EFO	7	EFO	disease	Distal hereditary motor neuropathy, Jerash type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139552	"" []	5410519	\N	\N	EFO	7	EFO	disease	Distal hereditary motor neuropathy, Jerash type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139552	"" []	5996972	\N	\N	EFO	8	EFO	disposition	Distal hereditary motor neuropathy, Jerash type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139552	"" []	6550540	\N	\N	EFO	9	EFO	material property	Distal hereditary motor neuropathy, Jerash type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139552	"" []	6889031	\N	\N	EFO	10	EFO	experimental factor	Distal hereditary motor neuropathy, Jerash type
Orphanet:139557	\N	\N	"" []	Orphanet:139557	"" []	73543	\N	\N	EFO	0	EFO	X-linked distal spinal muscular atrophy	X-linked distal spinal muscular atrophy
Orphanet:404538	Orphanet:139557	\N	"" []	Orphanet:139557	"" []	214949	\N	\N	EFO	1	EFO	X-linked distal hereditary motor neuropathy	X-linked distal spinal muscular atrophy
Orphanet:53739	Orphanet:139557	\N	"" []	Orphanet:139557	"" []	214950	\N	\N	EFO	1	EFO	Distal hereditary motor neuropathy	X-linked distal spinal muscular atrophy
Orphanet:206713	Orphanet:404538	\N	"" []	Orphanet:139557	"" []	569034	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	X-linked distal spinal muscular atrophy
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:139557	"" []	569035	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	X-linked distal spinal muscular atrophy
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:139557	"" []	1150753	\N	\N	EFO	3	EFO	Genetic motor neuron disease	X-linked distal spinal muscular atrophy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139557	"" []	1150754	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked distal spinal muscular atrophy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:139557	"" []	2033046	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	X-linked distal spinal muscular atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139557	"" []	4391396	\N	\N	EFO	6	EFO	genetic disorder	X-linked distal spinal muscular atrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:139557	"" []	3183556	\N	\N	EFO	5	EFO	muscular disease	X-linked distal spinal muscular atrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:139557	"" []	3183557	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked distal spinal muscular atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139557	"" []	5059604	\N	\N	EFO	7	EFO	disease	X-linked distal spinal muscular atrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:139557	"" []	4391395	\N	\N	EFO	6	EFO	skeletal system disease	X-linked distal spinal muscular atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139557	"" []	5876772	\N	\N	EFO	8	EFO	disposition	X-linked distal spinal muscular atrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139557	"" []	5410521	\N	\N	EFO	7	EFO	disease	X-linked distal spinal muscular atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139557	"" []	6469984	\N	\N	EFO	9	EFO	material property	X-linked distal spinal muscular atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139557	"" []	6848288	\N	\N	EFO	10	EFO	experimental factor	X-linked distal spinal muscular atrophy
Orphanet:139564	\N	\N	"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." []	Orphanet:139564	"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." []	73544	\N	\N	EFO	0	EFO	Hereditary sensory and autonomic neuropathy type 1B	Hereditary sensory and autonomic neuropathy type 1B
Orphanet:140474	Orphanet:139564	\N	"" []	Orphanet:139564	"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." []	214951	\N	\N	EFO	1	EFO	Autosomal dominant hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 1B
Orphanet:140471	Orphanet:140474	\N	"" []	Orphanet:139564	"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." []	569036	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 1B
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:139564	"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." []	1150755	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary sensory and autonomic neuropathy type 1B
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139564	"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." []	2033048	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary sensory and autonomic neuropathy type 1B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139564	"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." []	3183559	\N	\N	EFO	5	EFO	genetic disorder	Hereditary sensory and autonomic neuropathy type 1B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139564	"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." []	4391398	\N	\N	EFO	6	EFO	disease	Hereditary sensory and autonomic neuropathy type 1B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139564	"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." []	5410523	\N	\N	EFO	7	EFO	disposition	Hereditary sensory and autonomic neuropathy type 1B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139564	"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." []	6148180	\N	\N	EFO	8	EFO	material property	Hereditary sensory and autonomic neuropathy type 1B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139564	"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." []	6632092	\N	\N	EFO	9	EFO	experimental factor	Hereditary sensory and autonomic neuropathy type 1B
Orphanet:139573	\N	\N	"" []	Orphanet:139573	"" []	73545	\N	\N	EFO	0	EFO	Hereditary sensory and autonomic neuropathy with deafness and global delay	Hereditary sensory and autonomic neuropathy with deafness and global delay
Orphanet:140477	Orphanet:139573	\N	"" []	Orphanet:139573	"" []	214952	\N	\N	EFO	1	EFO	Autosomal recessive hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy with deafness and global delay
Orphanet:140471	Orphanet:140477	\N	"" []	Orphanet:139573	"" []	569037	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy with deafness and global delay
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:139573	"" []	1150756	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary sensory and autonomic neuropathy with deafness and global delay
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139573	"" []	2033049	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary sensory and autonomic neuropathy with deafness and global delay
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139573	"" []	3183560	\N	\N	EFO	5	EFO	genetic disorder	Hereditary sensory and autonomic neuropathy with deafness and global delay
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139573	"" []	4391399	\N	\N	EFO	6	EFO	disease	Hereditary sensory and autonomic neuropathy with deafness and global delay
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139573	"" []	5410524	\N	\N	EFO	7	EFO	disposition	Hereditary sensory and autonomic neuropathy with deafness and global delay
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139573	"" []	6148181	\N	\N	EFO	8	EFO	material property	Hereditary sensory and autonomic neuropathy with deafness and global delay
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139573	"" []	6632093	\N	\N	EFO	9	EFO	experimental factor	Hereditary sensory and autonomic neuropathy with deafness and global delay
Orphanet:139578	\N	\N	"" []	Orphanet:139578	"" []	73546	\N	\N	EFO	0	EFO	Hereditary sensory and autonomic neuropathy with spastic paraplegia	Hereditary sensory and autonomic neuropathy with spastic paraplegia
Orphanet:100981	Orphanet:139578	\N	"" []	Orphanet:139578	"" []	214953	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Hereditary sensory and autonomic neuropathy with spastic paraplegia
Orphanet:140477	Orphanet:139578	\N	"" []	Orphanet:139578	"" []	214954	\N	\N	EFO	1	EFO	Autosomal recessive hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy with spastic paraplegia
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:139578	"" []	569038	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Hereditary sensory and autonomic neuropathy with spastic paraplegia
Orphanet:140471	Orphanet:140477	\N	"" []	Orphanet:139578	"" []	569039	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy with spastic paraplegia
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:139578	"" []	1150757	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Hereditary sensory and autonomic neuropathy with spastic paraplegia
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:139578	"" []	1150758	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary sensory and autonomic neuropathy with spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:139578	"" []	2033050	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Hereditary sensory and autonomic neuropathy with spastic paraplegia
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139578	"" []	2033051	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary sensory and autonomic neuropathy with spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:139578	"" []	3183561	\N	\N	EFO	5	EFO	neurodegenerative disease	Hereditary sensory and autonomic neuropathy with spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:139578	"" []	3183562	\N	\N	EFO	5	EFO	brain disease	Hereditary sensory and autonomic neuropathy with spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:139578	"" []	3183563	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hereditary sensory and autonomic neuropathy with spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139578	"" []	4391402	\N	\N	EFO	6	EFO	genetic disorder	Hereditary sensory and autonomic neuropathy with spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139578	"" []	4391400	\N	\N	EFO	6	EFO	nervous system disease	Hereditary sensory and autonomic neuropathy with spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:139578	"" []	4391401	\N	\N	EFO	6	EFO	nervous system disease	Hereditary sensory and autonomic neuropathy with spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139578	"" []	5181595	\N	\N	EFO	7	EFO	disease	Hereditary sensory and autonomic neuropathy with spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139578	"" []	5410525	\N	\N	EFO	7	EFO	disease	Hereditary sensory and autonomic neuropathy with spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139578	"" []	5996973	\N	\N	EFO	8	EFO	disposition	Hereditary sensory and autonomic neuropathy with spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139578	"" []	6550541	\N	\N	EFO	9	EFO	material property	Hereditary sensory and autonomic neuropathy with spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139578	"" []	6889032	\N	\N	EFO	10	EFO	experimental factor	Hereditary sensory and autonomic neuropathy with spastic paraplegia
Orphanet:139583	\N	\N	"" []	Orphanet:139583	"" []	73547	\N	\N	EFO	0	EFO	X-linked hereditary sensory and autonomic neuropathy with deafness	X-linked hereditary sensory and autonomic neuropathy with deafness
Orphanet:140471	Orphanet:139583	\N	"" []	Orphanet:139583	"" []	214955	\N	\N	EFO	1	EFO	Hereditary sensory and autonomic neuropathy	X-linked hereditary sensory and autonomic neuropathy with deafness
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:139583	"" []	569040	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	X-linked hereditary sensory and autonomic neuropathy with deafness
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139583	"" []	1150759	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked hereditary sensory and autonomic neuropathy with deafness
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139583	"" []	2033052	\N	\N	EFO	4	EFO	genetic disorder	X-linked hereditary sensory and autonomic neuropathy with deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139583	"" []	3183565	\N	\N	EFO	5	EFO	disease	X-linked hereditary sensory and autonomic neuropathy with deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139583	"" []	4391404	\N	\N	EFO	6	EFO	disposition	X-linked hereditary sensory and autonomic neuropathy with deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139583	"" []	5410527	\N	\N	EFO	7	EFO	material property	X-linked hereditary sensory and autonomic neuropathy with deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139583	"" []	6148183	\N	\N	EFO	8	EFO	experimental factor	X-linked hereditary sensory and autonomic neuropathy with deafness
Orphanet:139589	\N	\N	"" []	Orphanet:139589	"" []	73548	\N	\N	EFO	0	EFO	Distal hereditary motor neuropathy type 7	Distal hereditary motor neuropathy type 7
Orphanet:140465	Orphanet:139589	\N	"" []	Orphanet:139589	"" []	214956	\N	\N	EFO	1	EFO	Autosomal dominant distal hereditary motor neuropathy	Distal hereditary motor neuropathy type 7
Orphanet:206713	Orphanet:140465	\N	"" []	Orphanet:139589	"" []	569041	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	Distal hereditary motor neuropathy type 7
Orphanet:53739	Orphanet:140465	\N	"" []	Orphanet:139589	"" []	569042	\N	\N	EFO	2	EFO	Distal hereditary motor neuropathy	Distal hereditary motor neuropathy type 7
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:139589	"" []	1150760	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Distal hereditary motor neuropathy type 7
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:139589	"" []	1150761	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Distal hereditary motor neuropathy type 7
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:139589	"" []	2033053	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal hereditary motor neuropathy type 7
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:139589	"" []	2033054	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Distal hereditary motor neuropathy type 7
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:139589	"" []	3183566	\N	\N	EFO	5	EFO	muscular disease	Distal hereditary motor neuropathy type 7
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:139589	"" []	3183567	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal hereditary motor neuropathy type 7
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:139589	"" []	4391406	\N	\N	EFO	6	EFO	genetic disorder	Distal hereditary motor neuropathy type 7
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:139589	"" []	4391405	\N	\N	EFO	6	EFO	skeletal system disease	Distal hereditary motor neuropathy type 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139589	"" []	5181596	\N	\N	EFO	7	EFO	disease	Distal hereditary motor neuropathy type 7
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:139589	"" []	5410528	\N	\N	EFO	7	EFO	disease	Distal hereditary motor neuropathy type 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:139589	"" []	5996974	\N	\N	EFO	8	EFO	disposition	Distal hereditary motor neuropathy type 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:139589	"" []	6550542	\N	\N	EFO	9	EFO	material property	Distal hereditary motor neuropathy type 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:139589	"" []	6889033	\N	\N	EFO	10	EFO	experimental factor	Distal hereditary motor neuropathy type 7
Orphanet:1396	\N	\N	"" []	Orphanet:1396	"" []	73549	\N	\N	EFO	0	EFO	Cerebro-reno-digital syndrome	Cerebro-reno-digital syndrome
Orphanet:93547	Orphanet:1396	\N	"" []	Orphanet:1396	"" []	214957	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Cerebro-reno-digital syndrome
Orphanet:93587	Orphanet:1396	\N	"" []	Orphanet:1396	"" []	214958	\N	\N	EFO	1	EFO	Familial cystic renal disease	Cerebro-reno-digital syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1396	"" []	569043	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Cerebro-reno-digital syndrome
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:1396	"" []	569044	\N	\N	EFO	2	EFO	kidney disease	Cerebro-reno-digital syndrome
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:1396	"" []	569045	\N	\N	EFO	2	EFO	Rare genetic renal disease	Cerebro-reno-digital syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1396	"" []	1150762	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cerebro-reno-digital syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1396	"" []	1150763	\N	\N	EFO	3	EFO	Rare genetic renal disease	Cerebro-reno-digital syndrome
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1396	"" []	1150764	\N	\N	EFO	3	EFO	disease	Cerebro-reno-digital syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1396	"" []	2033056	\N	\N	EFO	4	EFO	genetic disorder	Cerebro-reno-digital syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1396	"" []	2033055	\N	\N	EFO	4	EFO	genetic disorder	Cerebro-reno-digital syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1396	"" []	4133298	\N	\N	EFO	6	EFO	disposition	Cerebro-reno-digital syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1396	"" []	3000132	\N	\N	EFO	5	EFO	disease	Cerebro-reno-digital syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1396	"" []	5059605	\N	\N	EFO	7	EFO	material property	Cerebro-reno-digital syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1396	"" []	5876773	\N	\N	EFO	8	EFO	experimental factor	Cerebro-reno-digital syndrome
Orphanet:1397	\N	\N	"" []	Orphanet:1397	"" []	73550	\N	\N	EFO	0	EFO	Cerebellum agenesis - hydrocephaly	Cerebellum agenesis - hydrocephaly
Orphanet:98464	Orphanet:1397	\N	"" []	Orphanet:1397	"" []	214959	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Cerebellum agenesis - hydrocephaly
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1397	"" []	569046	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Cerebellum agenesis - hydrocephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1397	"" []	1150766	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Cerebellum agenesis - hydrocephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1397	"" []	2033059	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cerebellum agenesis - hydrocephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1397	"" []	3183571	\N	\N	EFO	5	EFO	genetic disorder	Cerebellum agenesis - hydrocephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1397	"" []	4391409	\N	\N	EFO	6	EFO	disease	Cerebellum agenesis - hydrocephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1397	"" []	5410530	\N	\N	EFO	7	EFO	disposition	Cerebellum agenesis - hydrocephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1397	"" []	6148185	\N	\N	EFO	8	EFO	material property	Cerebellum agenesis - hydrocephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1397	"" []	6632096	\N	\N	EFO	9	EFO	experimental factor	Cerebellum agenesis - hydrocephaly
Orphanet:1399	\N	\N	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	73551	\N	\N	EFO	0	EFO	Richards-Rundle syndrome	Richards-Rundle syndrome
Orphanet:183518	Orphanet:1399	\N	"" []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	214960	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Richards-Rundle syndrome
Orphanet:90642	Orphanet:1399	\N	"" []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	214961	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Richards-Rundle syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	569047	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Richards-Rundle syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	569048	\N	\N	EFO	2	EFO	Rare genetic deafness	Richards-Rundle syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	1150767	\N	\N	EFO	3	EFO	genetic disorder	Richards-Rundle syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	1150768	\N	\N	EFO	3	EFO	genetic disorder	Richards-Rundle syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	1150769	\N	\N	EFO	3	EFO	auditory system disease	Richards-Rundle syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	2033060	\N	\N	EFO	4	EFO	disease	Richards-Rundle syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	2033061	\N	\N	EFO	4	EFO	sensory system disease	Richards-Rundle syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	5410532	\N	\N	EFO	7	EFO	disposition	Richards-Rundle syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	3183573	\N	\N	EFO	5	EFO	nervous system disease	Richards-Rundle syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	5876774	\N	\N	EFO	8	EFO	material property	Richards-Rundle syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	4391411	\N	\N	EFO	6	EFO	disease	Richards-Rundle syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1399	"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." []	6469985	\N	\N	EFO	9	EFO	experimental factor	Richards-Rundle syndrome
Orphanet:14	\N	\N	"" []	Orphanet:14	"" []	73552	\N	\N	EFO	0	EFO	Abetalipoproteinemia	Abetalipoproteinemia
Orphanet:207018	Orphanet:14	\N	"" []	Orphanet:14	"" []	214962	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Abetalipoproteinemia
Orphanet:31154	Orphanet:14	\N	"" []	Orphanet:14	"" []	214963	\N	\N	EFO	1	EFO	Hypobetalipoproteinemia	Abetalipoproteinemia
Orphanet:363306	Orphanet:14	\N	"" []	Orphanet:14	"" []	214964	\N	\N	EFO	1	EFO	Genetic intestinal disease due to fat malabsorption	Abetalipoproteinemia
Orphanet:68385	Orphanet:14	\N	"" []	Orphanet:14	"" []	214965	\N	\N	EFO	1	EFO	Neurometabolic disease	Abetalipoproteinemia
Orphanet:98096	Orphanet:14	\N	"" []	Orphanet:14	"" []	214966	\N	\N	EFO	1	EFO	Autosomal recessive metabolic cerebellar ataxia	Abetalipoproteinemia
Orphanet:98366	Orphanet:14	\N	"" []	Orphanet:14	"" []	214967	\N	\N	EFO	1	EFO	Constitutional hemolytic anemia due to acanthocytosis	Abetalipoproteinemia
Orphanet:98713	Orphanet:14	\N	"" []	Orphanet:14	"" []	214968	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Abetalipoproteinemia
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:14	"" []	569049	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Abetalipoproteinemia
Orphanet:181431	Orphanet:31154	\N	"" []	Orphanet:14	"" []	569050	\N	\N	EFO	2	EFO	Rare hypolipidemia	Abetalipoproteinemia
Orphanet:165655	Orphanet:363306	\N	"" []	Orphanet:14	"" []	569051	\N	\N	EFO	2	EFO	Genetic intestinal disease	Abetalipoproteinemia
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:14	"" []	569052	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Abetalipoproteinemia
Orphanet:1172	Orphanet:98096	\N	"" []	Orphanet:14	"" []	569053	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Abetalipoproteinemia
Orphanet:98364	Orphanet:98366	\N	"" []	Orphanet:14	"" []	569054	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Abetalipoproteinemia
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:14	"" []	569055	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Abetalipoproteinemia
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:14	"" []	1150770	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Abetalipoproteinemia
Orphanet:101953	Orphanet:181431	\N	"" []	Orphanet:14	"" []	1150771	\N	\N	EFO	3	EFO	Rare dyslipidemia	Abetalipoproteinemia
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:14	"" []	1150772	\N	\N	EFO	3	EFO	digestive system disease	Abetalipoproteinemia
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:14	"" []	1150773	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Abetalipoproteinemia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:14	"" []	6148187	\N	\N	EFO	8	EFO	genetic disorder	Abetalipoproteinemia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:14	"" []	1150775	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Abetalipoproteinemia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:14	"" []	1150776	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Abetalipoproteinemia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:14	"" []	1150777	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Abetalipoproteinemia
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:14	"" []	1150778	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Abetalipoproteinemia
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:14	"" []	1150779	\N	\N	EFO	3	EFO	Rare genetic eye disease	Abetalipoproteinemia
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:14	"" []	2033062	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Abetalipoproteinemia
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:14	"" []	2033063	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Abetalipoproteinemia
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:14	"" []	2033064	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Abetalipoproteinemia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:14	"" []	2033065	\N	\N	EFO	4	EFO	disease	Abetalipoproteinemia
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:14	"" []	2033066	\N	\N	EFO	4	EFO	genetic disorder	Abetalipoproteinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:14	"" []	6370821	\N	\N	EFO	9	EFO	disease	Abetalipoproteinemia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:14	"" []	2033068	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Abetalipoproteinemia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:14	"" []	2033069	\N	\N	EFO	4	EFO	Ataxia with dementia	Abetalipoproteinemia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:14	"" []	2033070	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Abetalipoproteinemia
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:14	"" []	2033071	\N	\N	EFO	4	EFO	Rare constitutional anemia	Abetalipoproteinemia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:14	"" []	5410541	\N	\N	EFO	7	EFO	genetic disorder	Abetalipoproteinemia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:14	"" []	5410542	\N	\N	EFO	7	EFO	eye disease	Abetalipoproteinemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:14	"" []	3183575	\N	\N	EFO	5	EFO	genetic disorder	Abetalipoproteinemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:14	"" []	3183576	\N	\N	EFO	5	EFO	endocrine system disease	Abetalipoproteinemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:14	"" []	3183577	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Abetalipoproteinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:14	"" []	6762362	\N	\N	EFO	10	EFO	disposition	Abetalipoproteinemia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:14	"" []	3183580	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Abetalipoproteinemia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:14	"" []	3183581	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Abetalipoproteinemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:14	"" []	3183582	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Abetalipoproteinemia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:14	"" []	5817480	\N	\N	EFO	8	EFO	disease	Abetalipoproteinemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:14	"" []	4391412	\N	\N	EFO	6	EFO	disease	Abetalipoproteinemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:14	"" []	4391413	\N	\N	EFO	6	EFO	genetic disorder	Abetalipoproteinemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:14	"" []	4391414	\N	\N	EFO	6	EFO	metabolic disease	Abetalipoproteinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:14	"" []	7015666	\N	\N	EFO	11	EFO	material property	Abetalipoproteinemia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:14	"" []	4391416	\N	\N	EFO	6	EFO	Genetic dementia	Abetalipoproteinemia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:14	"" []	4391417	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Abetalipoproteinemia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:14	"" []	4391418	\N	\N	EFO	6	EFO	Rare genetic eye disease	Abetalipoproteinemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:14	"" []	4391419	\N	\N	EFO	6	EFO	genetic disorder	Abetalipoproteinemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:14	"" []	4391420	\N	\N	EFO	6	EFO	hematological system disease	Abetalipoproteinemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:14	"" []	5410534	\N	\N	EFO	7	EFO	disease	Abetalipoproteinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:14	"" []	7173614	\N	\N	EFO	12	EFO	experimental factor	Abetalipoproteinemia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:14	"" []	5410536	\N	\N	EFO	7	EFO	brain disease	Abetalipoproteinemia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:14	"" []	5410537	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Abetalipoproteinemia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:14	"" []	5410538	\N	\N	EFO	7	EFO	neurodegenerative disease	Abetalipoproteinemia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:14	"" []	5410539	\N	\N	EFO	7	EFO	brain disease	Abetalipoproteinemia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:14	"" []	5410540	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Abetalipoproteinemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:14	"" []	5410543	\N	\N	EFO	7	EFO	disease	Abetalipoproteinemia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:14	"" []	6148186	\N	\N	EFO	8	EFO	nervous system disease	Abetalipoproteinemia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:14	"" []	6148188	\N	\N	EFO	8	EFO	nervous system disease	Abetalipoproteinemia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:14	"" []	6632097	\N	\N	EFO	9	EFO	disease	Abetalipoproteinemia
Orphanet:140	\N	\N	"" []	Orphanet:140	"" []	73553	\N	\N	EFO	0	EFO	Campomelic dysplasia	Campomelic dysplasia
Orphanet:325638	Orphanet:140	\N	"" []	Orphanet:140	"" []	214969	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Campomelic dysplasia
Orphanet:330197	Orphanet:140	\N	"" []	Orphanet:140	"" []	214970	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Campomelic dysplasia
Orphanet:93439	Orphanet:140	\N	"" []	Orphanet:140	"" []	214971	\N	\N	EFO	1	EFO	Bent bone dysplasia	Campomelic dysplasia
Orphanet:98087	Orphanet:140	\N	"" []	Orphanet:140	"" []	214972	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	Campomelic dysplasia
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:140	"" []	569056	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Campomelic dysplasia
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:140	"" []	569057	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Campomelic dysplasia
Orphanet:364526	Orphanet:93439	\N	"" []	Orphanet:140	"" []	569058	\N	\N	EFO	2	EFO	Primary bone dysplasia	Campomelic dysplasia
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:140	"" []	569059	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Campomelic dysplasia
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:140	"" []	1150780	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Campomelic dysplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:140	"" []	1150781	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Campomelic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:140	"" []	1150782	\N	\N	EFO	3	EFO	Rare genetic bone disease	Campomelic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:140	"" []	1150783	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Campomelic dysplasia
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:140	"" []	1150784	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Campomelic dysplasia
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140	"" []	2033074	\N	\N	EFO	4	EFO	genetic disorder	Campomelic dysplasia
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:140	"" []	2033075	\N	\N	EFO	4	EFO	reproductive system disease	Campomelic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140	"" []	3183587	\N	\N	EFO	5	EFO	genetic disorder	Campomelic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140	"" []	2033077	\N	\N	EFO	4	EFO	genetic disorder	Campomelic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:140	"" []	2033078	\N	\N	EFO	4	EFO	bone disease	Campomelic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:140	"" []	2033079	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Campomelic dysplasia
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:140	"" []	2033080	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Campomelic dysplasia
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:140	"" []	2033081	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Campomelic dysplasia
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:140	"" []	2033082	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Campomelic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140	"" []	4133300	\N	\N	EFO	6	EFO	disease	Campomelic dysplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140	"" []	3183585	\N	\N	EFO	5	EFO	disease	Campomelic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:140	"" []	3183586	\N	\N	EFO	5	EFO	skeletal system disease	Campomelic dysplasia
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140	"" []	3183588	\N	\N	EFO	5	EFO	genetic disorder	Campomelic dysplasia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140	"" []	3183589	\N	\N	EFO	5	EFO	genetic disorder	Campomelic dysplasia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:140	"" []	3183590	\N	\N	EFO	5	EFO	endocrine system disease	Campomelic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140	"" []	5181599	\N	\N	EFO	7	EFO	disposition	Campomelic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140	"" []	4391422	\N	\N	EFO	6	EFO	disease	Campomelic dysplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140	"" []	4391423	\N	\N	EFO	6	EFO	disease	Campomelic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140	"" []	5996976	\N	\N	EFO	8	EFO	material property	Campomelic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140	"" []	6550543	\N	\N	EFO	9	EFO	experimental factor	Campomelic dysplasia
Orphanet:140162	\N	\N	"" []	Orphanet:140162	"" []	73554	\N	\N	EFO	0	EFO	Inherited cancer-predisposing syndrome	Inherited cancer-predisposing syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140162	"" []	214973	\N	\N	EFO	1	EFO	genetic disorder	Inherited cancer-predisposing syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140162	"" []	569060	\N	\N	EFO	2	EFO	disease	Inherited cancer-predisposing syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140162	"" []	1150785	\N	\N	EFO	3	EFO	disposition	Inherited cancer-predisposing syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140162	"" []	2033083	\N	\N	EFO	4	EFO	material property	Inherited cancer-predisposing syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140162	"" []	3183591	\N	\N	EFO	5	EFO	experimental factor	Inherited cancer-predisposing syndrome
Orphanet:140436	\N	\N	"" []	Orphanet:140436	"" []	73555	\N	\N	EFO	0	EFO	Primary intraosseous vascular malformation	Primary intraosseous vascular malformation
Orphanet:235832	Orphanet:140436	\N	"" []	Orphanet:140436	"" []	214974	\N	\N	EFO	1	EFO	Congenital vascular bone syndrome	Primary intraosseous vascular malformation
Orphanet:183524	Orphanet:235832	\N	"" []	Orphanet:140436	"" []	569061	\N	\N	EFO	2	EFO	Rare genetic bone disease	Primary intraosseous vascular malformation
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140436	"" []	1150786	\N	\N	EFO	3	EFO	genetic disorder	Primary intraosseous vascular malformation
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:140436	"" []	1150787	\N	\N	EFO	3	EFO	bone disease	Primary intraosseous vascular malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140436	"" []	2033084	\N	\N	EFO	4	EFO	disease	Primary intraosseous vascular malformation
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:140436	"" []	2033085	\N	\N	EFO	4	EFO	skeletal system disease	Primary intraosseous vascular malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140436	"" []	4391425	\N	\N	EFO	6	EFO	disposition	Primary intraosseous vascular malformation
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140436	"" []	3183593	\N	\N	EFO	5	EFO	disease	Primary intraosseous vascular malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140436	"" []	5181600	\N	\N	EFO	7	EFO	material property	Primary intraosseous vascular malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140436	"" []	5996977	\N	\N	EFO	8	EFO	experimental factor	Primary intraosseous vascular malformation
Orphanet:140450	\N	\N	"" []	Orphanet:140450	"" []	73556	\N	\N	EFO	0	EFO	Hereditary motor and sensory neuropathy	Hereditary motor and sensory neuropathy
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:140450	"" []	214975	\N	\N	EFO	1	EFO	motor neuron disease	Hereditary motor and sensory neuropathy
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:140450	"" []	214976	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Hereditary motor and sensory neuropathy
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:140450	"" []	569062	\N	\N	EFO	2	EFO	neurodegenerative disease	Hereditary motor and sensory neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:140450	"" []	569063	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hereditary motor and sensory neuropathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:140450	"" []	1150788	\N	\N	EFO	3	EFO	nervous system disease	Hereditary motor and sensory neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140450	"" []	1150789	\N	\N	EFO	3	EFO	genetic disorder	Hereditary motor and sensory neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140450	"" []	2033086	\N	\N	EFO	4	EFO	disease	Hereditary motor and sensory neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140450	"" []	2033087	\N	\N	EFO	4	EFO	disease	Hereditary motor and sensory neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140450	"" []	3183594	\N	\N	EFO	5	EFO	disposition	Hereditary motor and sensory neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140450	"" []	4391426	\N	\N	EFO	6	EFO	material property	Hereditary motor and sensory neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140450	"" []	5410546	\N	\N	EFO	7	EFO	experimental factor	Hereditary motor and sensory neuropathy
Orphanet:140453	\N	\N	"" []	Orphanet:140453	"" []	73557	\N	\N	EFO	0	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:140453	"" []	214977	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:140453	"" []	569064	\N	\N	EFO	2	EFO	motor neuron disease	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:140453	"" []	569065	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:140453	"" []	1150790	\N	\N	EFO	3	EFO	neurodegenerative disease	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:140453	"" []	1150791	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:140453	"" []	2033088	\N	\N	EFO	4	EFO	nervous system disease	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140453	"" []	2033089	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140453	"" []	3183595	\N	\N	EFO	5	EFO	disease	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140453	"" []	3183596	\N	\N	EFO	5	EFO	disease	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140453	"" []	4391427	\N	\N	EFO	6	EFO	disposition	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140453	"" []	5410547	\N	\N	EFO	7	EFO	material property	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140453	"" []	6148190	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant hereditary demyelinating motor and sensory neuropathy
Orphanet:140456	\N	\N	"" []	Orphanet:140456	"" []	73558	\N	\N	EFO	0	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant hereditary axonal motor and sensory neuropathy
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:140456	"" []	214978	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant hereditary axonal motor and sensory neuropathy
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:140456	"" []	569066	\N	\N	EFO	2	EFO	motor neuron disease	Autosomal dominant hereditary axonal motor and sensory neuropathy
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:140456	"" []	569067	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal dominant hereditary axonal motor and sensory neuropathy
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:140456	"" []	1150792	\N	\N	EFO	3	EFO	neurodegenerative disease	Autosomal dominant hereditary axonal motor and sensory neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:140456	"" []	1150793	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant hereditary axonal motor and sensory neuropathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:140456	"" []	2033090	\N	\N	EFO	4	EFO	nervous system disease	Autosomal dominant hereditary axonal motor and sensory neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140456	"" []	2033091	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant hereditary axonal motor and sensory neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140456	"" []	3183597	\N	\N	EFO	5	EFO	disease	Autosomal dominant hereditary axonal motor and sensory neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140456	"" []	3183598	\N	\N	EFO	5	EFO	disease	Autosomal dominant hereditary axonal motor and sensory neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140456	"" []	4391428	\N	\N	EFO	6	EFO	disposition	Autosomal dominant hereditary axonal motor and sensory neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140456	"" []	5410548	\N	\N	EFO	7	EFO	material property	Autosomal dominant hereditary axonal motor and sensory neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140456	"" []	6148191	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant hereditary axonal motor and sensory neuropathy
Orphanet:140459	\N	\N	"" []	Orphanet:140459	"" []	73559	\N	\N	EFO	0	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:140459	"" []	214979	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:140459	"" []	569068	\N	\N	EFO	2	EFO	motor neuron disease	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:140459	"" []	569069	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:140459	"" []	1150794	\N	\N	EFO	3	EFO	neurodegenerative disease	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:140459	"" []	1150795	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:140459	"" []	2033092	\N	\N	EFO	4	EFO	nervous system disease	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140459	"" []	2033093	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140459	"" []	3183599	\N	\N	EFO	5	EFO	disease	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140459	"" []	3183600	\N	\N	EFO	5	EFO	disease	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140459	"" []	4391429	\N	\N	EFO	6	EFO	disposition	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140459	"" []	5410549	\N	\N	EFO	7	EFO	material property	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140459	"" []	6148192	\N	\N	EFO	8	EFO	experimental factor	Autosomal recessive hereditary demyelinating motor and sensory neuropathy
Orphanet:140462	\N	\N	"" []	Orphanet:140462	"" []	73560	\N	\N	EFO	0	EFO	X-linked recessive hereditary axonal motor and sensory neuropathy	X-linked recessive hereditary axonal motor and sensory neuropathy
Orphanet:140450	Orphanet:140462	\N	"" []	Orphanet:140462	"" []	214980	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	X-linked recessive hereditary axonal motor and sensory neuropathy
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:140462	"" []	569070	\N	\N	EFO	2	EFO	motor neuron disease	X-linked recessive hereditary axonal motor and sensory neuropathy
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:140462	"" []	569071	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	X-linked recessive hereditary axonal motor and sensory neuropathy
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:140462	"" []	1150796	\N	\N	EFO	3	EFO	neurodegenerative disease	X-linked recessive hereditary axonal motor and sensory neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:140462	"" []	1150797	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked recessive hereditary axonal motor and sensory neuropathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:140462	"" []	2033094	\N	\N	EFO	4	EFO	nervous system disease	X-linked recessive hereditary axonal motor and sensory neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140462	"" []	2033095	\N	\N	EFO	4	EFO	genetic disorder	X-linked recessive hereditary axonal motor and sensory neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140462	"" []	3183601	\N	\N	EFO	5	EFO	disease	X-linked recessive hereditary axonal motor and sensory neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140462	"" []	3183602	\N	\N	EFO	5	EFO	disease	X-linked recessive hereditary axonal motor and sensory neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140462	"" []	4391430	\N	\N	EFO	6	EFO	disposition	X-linked recessive hereditary axonal motor and sensory neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140462	"" []	5410550	\N	\N	EFO	7	EFO	material property	X-linked recessive hereditary axonal motor and sensory neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140462	"" []	6148193	\N	\N	EFO	8	EFO	experimental factor	X-linked recessive hereditary axonal motor and sensory neuropathy
Orphanet:140465	\N	\N	"" []	Orphanet:140465	"" []	73561	\N	\N	EFO	0	EFO	Autosomal dominant distal hereditary motor neuropathy	Autosomal dominant distal hereditary motor neuropathy
Orphanet:206713	Orphanet:140465	\N	"" []	Orphanet:140465	"" []	214981	\N	\N	EFO	1	EFO	Distal spinal muscular atrophy	Autosomal dominant distal hereditary motor neuropathy
Orphanet:53739	Orphanet:140465	\N	"" []	Orphanet:140465	"" []	214982	\N	\N	EFO	1	EFO	Distal hereditary motor neuropathy	Autosomal dominant distal hereditary motor neuropathy
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:140465	"" []	569072	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Autosomal dominant distal hereditary motor neuropathy
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:140465	"" []	569073	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal dominant distal hereditary motor neuropathy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:140465	"" []	1150798	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal dominant distal hereditary motor neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:140465	"" []	1150799	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant distal hereditary motor neuropathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:140465	"" []	2033096	\N	\N	EFO	4	EFO	muscular disease	Autosomal dominant distal hereditary motor neuropathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:140465	"" []	2033097	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant distal hereditary motor neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140465	"" []	3183604	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant distal hereditary motor neuropathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:140465	"" []	3183603	\N	\N	EFO	5	EFO	skeletal system disease	Autosomal dominant distal hereditary motor neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140465	"" []	4133301	\N	\N	EFO	6	EFO	disease	Autosomal dominant distal hereditary motor neuropathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140465	"" []	4391431	\N	\N	EFO	6	EFO	disease	Autosomal dominant distal hereditary motor neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140465	"" []	5181601	\N	\N	EFO	7	EFO	disposition	Autosomal dominant distal hereditary motor neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140465	"" []	5996978	\N	\N	EFO	8	EFO	material property	Autosomal dominant distal hereditary motor neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140465	"" []	6550544	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant distal hereditary motor neuropathy
Orphanet:140468	\N	\N	"" []	Orphanet:140468	"" []	73562	\N	\N	EFO	0	EFO	Autosomal recessive distal hereditary motor neuropathy	Autosomal recessive distal hereditary motor neuropathy
Orphanet:206713	Orphanet:140468	\N	"" []	Orphanet:140468	"" []	214983	\N	\N	EFO	1	EFO	Distal spinal muscular atrophy	Autosomal recessive distal hereditary motor neuropathy
Orphanet:53739	Orphanet:140468	\N	"" []	Orphanet:140468	"" []	214984	\N	\N	EFO	1	EFO	Distal hereditary motor neuropathy	Autosomal recessive distal hereditary motor neuropathy
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:140468	"" []	569074	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Autosomal recessive distal hereditary motor neuropathy
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:140468	"" []	569075	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal recessive distal hereditary motor neuropathy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:140468	"" []	1150800	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal recessive distal hereditary motor neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:140468	"" []	1150801	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive distal hereditary motor neuropathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:140468	"" []	2033099	\N	\N	EFO	4	EFO	muscular disease	Autosomal recessive distal hereditary motor neuropathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:140468	"" []	2033100	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive distal hereditary motor neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140468	"" []	3183607	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive distal hereditary motor neuropathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:140468	"" []	3183606	\N	\N	EFO	5	EFO	skeletal system disease	Autosomal recessive distal hereditary motor neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140468	"" []	4133302	\N	\N	EFO	6	EFO	disease	Autosomal recessive distal hereditary motor neuropathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140468	"" []	4391433	\N	\N	EFO	6	EFO	disease	Autosomal recessive distal hereditary motor neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140468	"" []	5181602	\N	\N	EFO	7	EFO	disposition	Autosomal recessive distal hereditary motor neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140468	"" []	5996979	\N	\N	EFO	8	EFO	material property	Autosomal recessive distal hereditary motor neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140468	"" []	6550545	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive distal hereditary motor neuropathy
Orphanet:140471	\N	\N	"" []	Orphanet:140471	"" []	73563	\N	\N	EFO	0	EFO	Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:140471	"" []	214985	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Hereditary sensory and autonomic neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:140471	"" []	569076	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hereditary sensory and autonomic neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140471	"" []	1150802	\N	\N	EFO	3	EFO	genetic disorder	Hereditary sensory and autonomic neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140471	"" []	2033102	\N	\N	EFO	4	EFO	disease	Hereditary sensory and autonomic neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140471	"" []	3183609	\N	\N	EFO	5	EFO	disposition	Hereditary sensory and autonomic neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140471	"" []	4391435	\N	\N	EFO	6	EFO	material property	Hereditary sensory and autonomic neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140471	"" []	5410553	\N	\N	EFO	7	EFO	experimental factor	Hereditary sensory and autonomic neuropathy
Orphanet:140474	\N	\N	"" []	Orphanet:140474	"" []	73564	\N	\N	EFO	0	EFO	Autosomal dominant hereditary sensory and autonomic neuropathy	Autosomal dominant hereditary sensory and autonomic neuropathy
Orphanet:140471	Orphanet:140474	\N	"" []	Orphanet:140474	"" []	214986	\N	\N	EFO	1	EFO	Hereditary sensory and autonomic neuropathy	Autosomal dominant hereditary sensory and autonomic neuropathy
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:140474	"" []	569077	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal dominant hereditary sensory and autonomic neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:140474	"" []	1150803	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant hereditary sensory and autonomic neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140474	"" []	2033103	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant hereditary sensory and autonomic neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140474	"" []	3183610	\N	\N	EFO	5	EFO	disease	Autosomal dominant hereditary sensory and autonomic neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140474	"" []	4391436	\N	\N	EFO	6	EFO	disposition	Autosomal dominant hereditary sensory and autonomic neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140474	"" []	5410554	\N	\N	EFO	7	EFO	material property	Autosomal dominant hereditary sensory and autonomic neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140474	"" []	6148196	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant hereditary sensory and autonomic neuropathy
Orphanet:140477	\N	\N	"" []	Orphanet:140477	"" []	73565	\N	\N	EFO	0	EFO	Autosomal recessive hereditary sensory and autonomic neuropathy	Autosomal recessive hereditary sensory and autonomic neuropathy
Orphanet:140471	Orphanet:140477	\N	"" []	Orphanet:140477	"" []	214987	\N	\N	EFO	1	EFO	Hereditary sensory and autonomic neuropathy	Autosomal recessive hereditary sensory and autonomic neuropathy
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:140477	"" []	569078	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal recessive hereditary sensory and autonomic neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:140477	"" []	1150804	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive hereditary sensory and autonomic neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140477	"" []	2033104	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive hereditary sensory and autonomic neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140477	"" []	3183611	\N	\N	EFO	5	EFO	disease	Autosomal recessive hereditary sensory and autonomic neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140477	"" []	4391437	\N	\N	EFO	6	EFO	disposition	Autosomal recessive hereditary sensory and autonomic neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140477	"" []	5410555	\N	\N	EFO	7	EFO	material property	Autosomal recessive hereditary sensory and autonomic neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140477	"" []	6148197	\N	\N	EFO	8	EFO	experimental factor	Autosomal recessive hereditary sensory and autonomic neuropathy
Orphanet:140481	\N	\N	"" []	Orphanet:140481	"" []	73566	\N	\N	EFO	0	EFO	Autosomal dominant slowed nerve conduction velocity	Autosomal dominant slowed nerve conduction velocity
Orphanet:140453	Orphanet:140481	\N	"" []	Orphanet:140481	"" []	214988	\N	\N	EFO	1	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Autosomal dominant slowed nerve conduction velocity
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:140481	"" []	569079	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant slowed nerve conduction velocity
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:140481	"" []	1150805	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal dominant slowed nerve conduction velocity
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:140481	"" []	1150806	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant slowed nerve conduction velocity
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:140481	"" []	2033105	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal dominant slowed nerve conduction velocity
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:140481	"" []	2033106	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant slowed nerve conduction velocity
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:140481	"" []	3183612	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant slowed nerve conduction velocity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140481	"" []	3183613	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant slowed nerve conduction velocity
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140481	"" []	4391438	\N	\N	EFO	6	EFO	disease	Autosomal dominant slowed nerve conduction velocity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140481	"" []	4391439	\N	\N	EFO	6	EFO	disease	Autosomal dominant slowed nerve conduction velocity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140481	"" []	5410556	\N	\N	EFO	7	EFO	disposition	Autosomal dominant slowed nerve conduction velocity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140481	"" []	6148198	\N	\N	EFO	8	EFO	material property	Autosomal dominant slowed nerve conduction velocity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140481	"" []	6632098	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant slowed nerve conduction velocity
Orphanet:1406	\N	\N	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	73567	\N	\N	EFO	0	EFO	Charlie M syndrome	Charlie M syndrome
Orphanet:183576	Orphanet:1406	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	214989	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Charlie M syndrome
Orphanet:2749	Orphanet:1406	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	214990	\N	\N	EFO	1	EFO	Oromandibular-limb hypogenesis syndrome	Charlie M syndrome
Orphanet:330206	Orphanet:1406	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	214991	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Charlie M syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	569080	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Charlie M syndrome
Orphanet:156215	Orphanet:2749	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	569081	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Charlie M syndrome
Orphanet:364571	Orphanet:2749	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	569082	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Charlie M syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	569083	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Charlie M syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	5410559	\N	\N	EFO	7	EFO	genetic disorder	Charlie M syndrome
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	1150808	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Charlie M syndrome
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	1150809	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Charlie M syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	1150810	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Charlie M syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	5801837	\N	\N	EFO	8	EFO	disease	Charlie M syndrome
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	2033108	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Charlie M syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	2033109	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Charlie M syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	6378813	\N	\N	EFO	9	EFO	disposition	Charlie M syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	3183615	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Charlie M syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	3183616	\N	\N	EFO	5	EFO	Rare genetic bone disease	Charlie M syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	3183617	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Charlie M syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	6778607	\N	\N	EFO	10	EFO	material property	Charlie M syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	4391442	\N	\N	EFO	6	EFO	genetic disorder	Charlie M syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	4391443	\N	\N	EFO	6	EFO	bone disease	Charlie M syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	4391444	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Charlie M syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	7029821	\N	\N	EFO	11	EFO	experimental factor	Charlie M syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	5410558	\N	\N	EFO	7	EFO	skeletal system disease	Charlie M syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1406	"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976." []	6148199	\N	\N	EFO	8	EFO	disease	Charlie M syndrome
Orphanet:1408	\N	\N	"" []	Orphanet:1408	"" []	73568	\N	\N	EFO	0	EFO	Hair defect - photosensitivity - intellectual disability	Hair defect - photosensitivity - intellectual disability
Orphanet:183763	Orphanet:1408	\N	"" []	Orphanet:1408	"" []	214992	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hair defect - photosensitivity - intellectual disability
Orphanet:79367	Orphanet:1408	\N	"" []	Orphanet:1408	"" []	214993	\N	\N	EFO	1	EFO	Syndromic hair shaft abnormality	Hair defect - photosensitivity - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1408	"" []	569084	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hair defect - photosensitivity - intellectual disability
Orphanet:183450	Orphanet:79367	\N	"" []	Orphanet:1408	"" []	569085	\N	\N	EFO	2	EFO	Genetic hair anomaly	Hair defect - photosensitivity - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1408	"" []	1150811	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hair defect - photosensitivity - intellectual disability
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:1408	"" []	1150812	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Hair defect - photosensitivity - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1408	"" []	2033111	\N	\N	EFO	4	EFO	genetic disorder	Hair defect - photosensitivity - intellectual disability
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1408	"" []	2033112	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hair defect - photosensitivity - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1408	"" []	4391446	\N	\N	EFO	6	EFO	disease	Hair defect - photosensitivity - intellectual disability
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1408	"" []	3183619	\N	\N	EFO	5	EFO	genetic disorder	Hair defect - photosensitivity - intellectual disability
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1408	"" []	3183620	\N	\N	EFO	5	EFO	skin disease	Hair defect - photosensitivity - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1408	"" []	5181604	\N	\N	EFO	7	EFO	disposition	Hair defect - photosensitivity - intellectual disability
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1408	"" []	4391447	\N	\N	EFO	6	EFO	disease	Hair defect - photosensitivity - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1408	"" []	5996981	\N	\N	EFO	8	EFO	material property	Hair defect - photosensitivity - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1408	"" []	6550546	\N	\N	EFO	9	EFO	experimental factor	Hair defect - photosensitivity - intellectual disability
Orphanet:140874	\N	\N	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	73569	\N	\N	EFO	0	EFO	Joubert syndrome and related disorders	Joubert syndrome and related disorders
Orphanet:98095	Orphanet:140874	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	214994	\N	\N	EFO	1	EFO	Autosomal recessive congenital cerebellar ataxia	Joubert syndrome and related disorders
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	569086	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Joubert syndrome and related disorders
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	1150813	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Joubert syndrome and related disorders
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	1150814	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Joubert syndrome and related disorders
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	1150815	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Joubert syndrome and related disorders
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	2033113	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Joubert syndrome and related disorders
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	2033114	\N	\N	EFO	4	EFO	Ataxia with dementia	Joubert syndrome and related disorders
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	2033115	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Joubert syndrome and related disorders
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	6148203	\N	\N	EFO	8	EFO	genetic disorder	Joubert syndrome and related disorders
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	3183622	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Joubert syndrome and related disorders
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	3183623	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Joubert syndrome and related disorders
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	6409841	\N	\N	EFO	9	EFO	disease	Joubert syndrome and related disorders
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	4391449	\N	\N	EFO	6	EFO	Genetic dementia	Joubert syndrome and related disorders
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	4391450	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Joubert syndrome and related disorders
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	4391451	\N	\N	EFO	6	EFO	Rare genetic eye disease	Joubert syndrome and related disorders
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	6807698	\N	\N	EFO	10	EFO	disposition	Joubert syndrome and related disorders
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	5410562	\N	\N	EFO	7	EFO	brain disease	Joubert syndrome and related disorders
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	5410563	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Joubert syndrome and related disorders
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	5410564	\N	\N	EFO	7	EFO	neurodegenerative disease	Joubert syndrome and related disorders
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	5410565	\N	\N	EFO	7	EFO	brain disease	Joubert syndrome and related disorders
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	5410566	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Joubert syndrome and related disorders
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	5410567	\N	\N	EFO	7	EFO	genetic disorder	Joubert syndrome and related disorders
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	5410568	\N	\N	EFO	7	EFO	eye disease	Joubert syndrome and related disorders
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	7048548	\N	\N	EFO	11	EFO	material property	Joubert syndrome and related disorders
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	6148202	\N	\N	EFO	8	EFO	nervous system disease	Joubert syndrome and related disorders
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	6148204	\N	\N	EFO	8	EFO	nervous system disease	Joubert syndrome and related disorders
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	6148206	\N	\N	EFO	8	EFO	disease	Joubert syndrome and related disorders
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	7190187	\N	\N	EFO	12	EFO	experimental factor	Joubert syndrome and related disorders
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140874	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	6632100	\N	\N	EFO	9	EFO	disease	Joubert syndrome and related disorders
Orphanet:1409	\N	\N	"" []	Orphanet:1409	"" []	73570	\N	\N	EFO	0	EFO	Woolly hair - hypotrichosis - everted lower lip - outstanding ears	Woolly hair - hypotrichosis - everted lower lip - outstanding ears
Orphanet:79367	Orphanet:1409	\N	"" []	Orphanet:1409	"" []	214995	\N	\N	EFO	1	EFO	Syndromic hair shaft abnormality	Woolly hair - hypotrichosis - everted lower lip - outstanding ears
Orphanet:183450	Orphanet:79367	\N	"" []	Orphanet:1409	"" []	569087	\N	\N	EFO	2	EFO	Genetic hair anomaly	Woolly hair - hypotrichosis - everted lower lip - outstanding ears
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:1409	"" []	1150816	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Woolly hair - hypotrichosis - everted lower lip - outstanding ears
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1409	"" []	2033116	\N	\N	EFO	4	EFO	Rare genetic skin disease	Woolly hair - hypotrichosis - everted lower lip - outstanding ears
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1409	"" []	3183624	\N	\N	EFO	5	EFO	genetic disorder	Woolly hair - hypotrichosis - everted lower lip - outstanding ears
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1409	"" []	3183625	\N	\N	EFO	5	EFO	skin disease	Woolly hair - hypotrichosis - everted lower lip - outstanding ears
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1409	"" []	4391452	\N	\N	EFO	6	EFO	disease	Woolly hair - hypotrichosis - everted lower lip - outstanding ears
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1409	"" []	4391453	\N	\N	EFO	6	EFO	disease	Woolly hair - hypotrichosis - everted lower lip - outstanding ears
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1409	"" []	5410569	\N	\N	EFO	7	EFO	disposition	Woolly hair - hypotrichosis - everted lower lip - outstanding ears
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1409	"" []	6148207	\N	\N	EFO	8	EFO	material property	Woolly hair - hypotrichosis - everted lower lip - outstanding ears
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1409	"" []	6632101	\N	\N	EFO	9	EFO	experimental factor	Woolly hair - hypotrichosis - everted lower lip - outstanding ears
Orphanet:140905	\N	\N	"" []	Orphanet:140905	"" []	73571	\N	\N	EFO	0	EFO	Hyperlipidemia due to hepatic triglyceride lipase deficiency	Hyperlipidemia due to hepatic triglyceride lipase deficiency
Orphanet:181428	Orphanet:140905	\N	"" []	Orphanet:140905	"" []	214996	\N	\N	EFO	1	EFO	Hyperalphalipoproteinemia	Hyperlipidemia due to hepatic triglyceride lipase deficiency
Orphanet:181422	Orphanet:181428	\N	"" []	Orphanet:140905	"" []	569088	\N	\N	EFO	2	EFO	Rare hyperlipidemia	Hyperlipidemia due to hepatic triglyceride lipase deficiency
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:140905	"" []	1150817	\N	\N	EFO	3	EFO	Rare dyslipidemia	Hyperlipidemia due to hepatic triglyceride lipase deficiency
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:140905	"" []	2033117	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hyperlipidemia due to hepatic triglyceride lipase deficiency
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:140905	"" []	2033118	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Hyperlipidemia due to hepatic triglyceride lipase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140905	"" []	3183626	\N	\N	EFO	5	EFO	genetic disorder	Hyperlipidemia due to hepatic triglyceride lipase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:140905	"" []	3183627	\N	\N	EFO	5	EFO	endocrine system disease	Hyperlipidemia due to hepatic triglyceride lipase deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:140905	"" []	3183628	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Hyperlipidemia due to hepatic triglyceride lipase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140905	"" []	5410571	\N	\N	EFO	7	EFO	disease	Hyperlipidemia due to hepatic triglyceride lipase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140905	"" []	4391455	\N	\N	EFO	6	EFO	disease	Hyperlipidemia due to hepatic triglyceride lipase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140905	"" []	4391456	\N	\N	EFO	6	EFO	genetic disorder	Hyperlipidemia due to hepatic triglyceride lipase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:140905	"" []	4391457	\N	\N	EFO	6	EFO	metabolic disease	Hyperlipidemia due to hepatic triglyceride lipase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140905	"" []	5996982	\N	\N	EFO	8	EFO	disposition	Hyperlipidemia due to hepatic triglyceride lipase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140905	"" []	5410572	\N	\N	EFO	7	EFO	disease	Hyperlipidemia due to hepatic triglyceride lipase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140905	"" []	6550547	\N	\N	EFO	9	EFO	material property	Hyperlipidemia due to hepatic triglyceride lipase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140905	"" []	6889034	\N	\N	EFO	10	EFO	experimental factor	Hyperlipidemia due to hepatic triglyceride lipase deficiency
Orphanet:140908	\N	\N	"" []	Orphanet:140908	"" []	73572	\N	\N	EFO	0	EFO	Brachydactyly type B2	Brachydactyly type B2
Orphanet:69028	Orphanet:140908	\N	"" []	Orphanet:140908	"" []	214997	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly type B2
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:140908	"" []	569089	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly type B2
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:140908	"" []	569090	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly type B2
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:140908	"" []	1150818	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly type B2
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:140908	"" []	1150819	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly type B2
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:140908	"" []	2033119	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly type B2
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:140908	"" []	2033120	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly type B2
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:140908	"" []	2033121	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type B2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140908	"" []	3183629	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly type B2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:140908	"" []	3183630	\N	\N	EFO	5	EFO	bone disease	Brachydactyly type B2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:140908	"" []	3183631	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type B2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140908	"" []	4391460	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly type B2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140908	"" []	5181605	\N	\N	EFO	7	EFO	disease	Brachydactyly type B2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:140908	"" []	4391459	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly type B2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140908	"" []	5996983	\N	\N	EFO	8	EFO	disposition	Brachydactyly type B2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140908	"" []	5410574	\N	\N	EFO	7	EFO	disease	Brachydactyly type B2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140908	"" []	6550548	\N	\N	EFO	9	EFO	material property	Brachydactyly type B2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140908	"" []	6889035	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly type B2
Orphanet:140917	\N	\N	"" []	Orphanet:140917	"" []	73573	\N	\N	EFO	0	EFO	Stapes ankylosis with broad thumbs and toes	Stapes ankylosis with broad thumbs and toes
Orphanet:90642	Orphanet:140917	\N	"" []	Orphanet:140917	"" []	214998	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Stapes ankylosis with broad thumbs and toes
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:140917	"" []	569091	\N	\N	EFO	2	EFO	Rare genetic deafness	Stapes ankylosis with broad thumbs and toes
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140917	"" []	1150820	\N	\N	EFO	3	EFO	genetic disorder	Stapes ankylosis with broad thumbs and toes
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:140917	"" []	1150821	\N	\N	EFO	3	EFO	auditory system disease	Stapes ankylosis with broad thumbs and toes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140917	"" []	2033122	\N	\N	EFO	4	EFO	disease	Stapes ankylosis with broad thumbs and toes
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:140917	"" []	2033123	\N	\N	EFO	4	EFO	sensory system disease	Stapes ankylosis with broad thumbs and toes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140917	"" []	5410576	\N	\N	EFO	7	EFO	disposition	Stapes ankylosis with broad thumbs and toes
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:140917	"" []	3183634	\N	\N	EFO	5	EFO	nervous system disease	Stapes ankylosis with broad thumbs and toes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140917	"" []	5876776	\N	\N	EFO	8	EFO	material property	Stapes ankylosis with broad thumbs and toes
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140917	"" []	4391462	\N	\N	EFO	6	EFO	disease	Stapes ankylosis with broad thumbs and toes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140917	"" []	6469988	\N	\N	EFO	9	EFO	experimental factor	Stapes ankylosis with broad thumbs and toes
Orphanet:140922	\N	\N	"" []	Orphanet:140922	"" []	73574	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2J	Autosomal recessive limb-girdle muscular dystrophy type 2J
Orphanet:102015	Orphanet:140922	\N	"" []	Orphanet:140922	"" []	214999	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2J
Orphanet:209053	Orphanet:140922	\N	"" []	Orphanet:140922	"" []	215000	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of titin	Autosomal recessive limb-girdle muscular dystrophy type 2J
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:140922	"" []	569092	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2J
Orphanet:207049	Orphanet:209053	\N	"" []	Orphanet:140922	"" []	569093	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2J
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:140922	"" []	1150822	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2J
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:140922	"" []	1150823	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2J
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:140922	"" []	2033124	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2J
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:140922	"" []	5410577	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2J
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:140922	"" []	5410578	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2J
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:140922	"" []	3183635	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2J
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:140922	"" []	5817482	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2J
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140922	"" []	5817483	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2J
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:140922	"" []	4391463	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2J
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140922	"" []	6409842	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2J
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140922	"" []	6409843	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2J
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140922	"" []	6807699	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2J
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140922	"" []	7048549	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2J
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140922	"" []	7190188	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2J
Orphanet:140927	\N	\N	"" []	Orphanet:140927	"" []	73575	\N	\N	EFO	0	EFO	Benign familial neonatal-infantile seizures	Benign familial neonatal-infantile seizures
Orphanet:166311	Orphanet:140927	\N	"" []	Orphanet:140927	"" []	215001	\N	\N	EFO	1	EFO	Benign partial infantile seizures	Benign familial neonatal-infantile seizures
Orphanet:166475	Orphanet:140927	\N	"" []	Orphanet:140927	"" []	215002	\N	\N	EFO	1	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Benign familial neonatal-infantile seizures
Orphanet:98258	Orphanet:166311	\N	"" []	Orphanet:140927	"" []	569094	\N	\N	EFO	2	EFO	Infantile epilepsy syndrome	Benign familial neonatal-infantile seizures
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:140927	"" []	569095	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Benign familial neonatal-infantile seizures
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:140927	"" []	1150824	\N	\N	EFO	3	EFO	Epilepsy syndrome	Benign familial neonatal-infantile seizures
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:140927	"" []	3183638	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Benign familial neonatal-infantile seizures
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:140927	"" []	2033127	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Benign familial neonatal-infantile seizures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140927	"" []	4066851	\N	\N	EFO	6	EFO	genetic disorder	Benign familial neonatal-infantile seizures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140927	"" []	5059607	\N	\N	EFO	7	EFO	disease	Benign familial neonatal-infantile seizures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140927	"" []	5876777	\N	\N	EFO	8	EFO	disposition	Benign familial neonatal-infantile seizures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140927	"" []	6469989	\N	\N	EFO	9	EFO	material property	Benign familial neonatal-infantile seizures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140927	"" []	6848290	\N	\N	EFO	10	EFO	experimental factor	Benign familial neonatal-infantile seizures
Orphanet:140933	\N	\N	"" []	Orphanet:140933	"" []	73576	\N	\N	EFO	0	EFO	Linear atrophoderma of Moulin	Linear atrophoderma of Moulin
Orphanet:183472	Orphanet:140933	\N	"" []	Orphanet:140933	"" []	215003	\N	\N	EFO	1	EFO	Genetic dermis disorder	Linear atrophoderma of Moulin
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:140933	"" []	569096	\N	\N	EFO	2	EFO	Rare genetic skin disease	Linear atrophoderma of Moulin
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140933	"" []	1150826	\N	\N	EFO	3	EFO	genetic disorder	Linear atrophoderma of Moulin
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:140933	"" []	1150827	\N	\N	EFO	3	EFO	skin disease	Linear atrophoderma of Moulin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140933	"" []	2033129	\N	\N	EFO	4	EFO	disease	Linear atrophoderma of Moulin
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140933	"" []	2033130	\N	\N	EFO	4	EFO	disease	Linear atrophoderma of Moulin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140933	"" []	3183640	\N	\N	EFO	5	EFO	disposition	Linear atrophoderma of Moulin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140933	"" []	4391467	\N	\N	EFO	6	EFO	material property	Linear atrophoderma of Moulin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140933	"" []	5410581	\N	\N	EFO	7	EFO	experimental factor	Linear atrophoderma of Moulin
Orphanet:140936	\N	\N	"" []	Orphanet:140936	"" []	73577	\N	\N	EFO	0	EFO	Lelis syndrome	Lelis syndrome
Orphanet:79373	Orphanet:140936	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:140936	"" []	215004	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Lelis syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:140936	"" []	569097	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Lelis syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:140936	"" []	569098	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Lelis syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:140936	"" []	1150828	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lelis syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:140936	"" []	1150829	\N	\N	EFO	3	EFO	Rare genetic skin disease	Lelis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140936	"" []	2033131	\N	\N	EFO	4	EFO	genetic disorder	Lelis syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140936	"" []	2033132	\N	\N	EFO	4	EFO	genetic disorder	Lelis syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:140936	"" []	2033133	\N	\N	EFO	4	EFO	skin disease	Lelis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140936	"" []	3183641	\N	\N	EFO	5	EFO	disease	Lelis syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140936	"" []	3183642	\N	\N	EFO	5	EFO	disease	Lelis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140936	"" []	4391468	\N	\N	EFO	6	EFO	disposition	Lelis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140936	"" []	5410582	\N	\N	EFO	7	EFO	material property	Lelis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140936	"" []	6148212	\N	\N	EFO	8	EFO	experimental factor	Lelis syndrome
Orphanet:140941	\N	\N	"" []	Orphanet:140941	"" []	73578	\N	\N	EFO	0	EFO	Short stature due to primary acid-labile subunit deficiency	Short stature due to primary acid-labile subunit deficiency
Orphanet:181393	Orphanet:140941	\N	"" []	Orphanet:140941	"" []	215005	\N	\N	EFO	1	EFO	Growth hormone insensitivity syndrome	Short stature due to primary acid-labile subunit deficiency
Orphanet:183628	Orphanet:181393	\N	"" []	Orphanet:140941	"" []	569099	\N	\N	EFO	2	EFO	Rare genetic hypothalamic or pituitary disease	Short stature due to primary acid-labile subunit deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:140941	"" []	1150830	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Short stature due to primary acid-labile subunit deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140941	"" []	2033134	\N	\N	EFO	4	EFO	genetic disorder	Short stature due to primary acid-labile subunit deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:140941	"" []	2033135	\N	\N	EFO	4	EFO	endocrine system disease	Short stature due to primary acid-labile subunit deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140941	"" []	3183643	\N	\N	EFO	5	EFO	disease	Short stature due to primary acid-labile subunit deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140941	"" []	3183644	\N	\N	EFO	5	EFO	disease	Short stature due to primary acid-labile subunit deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140941	"" []	4391469	\N	\N	EFO	6	EFO	disposition	Short stature due to primary acid-labile subunit deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140941	"" []	5410583	\N	\N	EFO	7	EFO	material property	Short stature due to primary acid-labile subunit deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140941	"" []	6148213	\N	\N	EFO	8	EFO	experimental factor	Short stature due to primary acid-labile subunit deficiency
Orphanet:140944	\N	\N	"" []	Orphanet:140944	"" []	73579	\N	\N	EFO	0	EFO	CLOVE syndrome	CLOVE syndrome
Orphanet:183484	Orphanet:140944	\N	"" []	Orphanet:140944	"" []	215006	\N	\N	EFO	1	EFO	Genetic subcutaneous tissue disorder	CLOVE syndrome
Orphanet:183487	Orphanet:140944	\N	"" []	Orphanet:140944	"" []	215007	\N	\N	EFO	1	EFO	Genetic skin tumor	CLOVE syndrome
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:140944	"" []	569100	\N	\N	EFO	2	EFO	Rare genetic skin disease	CLOVE syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:140944	"" []	569101	\N	\N	EFO	2	EFO	skin neoplasm	CLOVE syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:140944	"" []	569102	\N	\N	EFO	2	EFO	Rare genetic tumor	CLOVE syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140944	"" []	1150831	\N	\N	EFO	3	EFO	genetic disorder	CLOVE syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:140944	"" []	1150832	\N	\N	EFO	3	EFO	skin disease	CLOVE syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:140944	"" []	1150833	\N	\N	EFO	3	EFO	neoplasm	CLOVE syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:140944	"" []	1150834	\N	\N	EFO	3	EFO	skin disease	CLOVE syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140944	"" []	1150835	\N	\N	EFO	3	EFO	genetic disorder	CLOVE syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:140944	"" []	1150836	\N	\N	EFO	3	EFO	neoplasm	CLOVE syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140944	"" []	2033136	\N	\N	EFO	4	EFO	disease	CLOVE syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140944	"" []	2033137	\N	\N	EFO	4	EFO	disease	CLOVE syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140944	"" []	2033138	\N	\N	EFO	4	EFO	disease	CLOVE syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140944	"" []	3183645	\N	\N	EFO	5	EFO	disposition	CLOVE syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140944	"" []	4391470	\N	\N	EFO	6	EFO	material property	CLOVE syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140944	"" []	5410584	\N	\N	EFO	7	EFO	experimental factor	CLOVE syndrome
Orphanet:140952	\N	\N	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	73580	\N	\N	EFO	0	EFO	Syndactyly - telecanthus - anogenital and renal malformations	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:117573	Orphanet:140952	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	215008	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:294959	Orphanet:140952	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	215009	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:330206	Orphanet:140952	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	215010	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	569103	\N	\N	EFO	2	EFO	Anorectal malformation	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	569104	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	569105	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	569106	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	1150837	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	1150838	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	1150839	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	1150840	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	2033139	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	2033140	\N	\N	EFO	4	EFO	Rare genetic bone disease	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	2033141	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	2033142	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly - telecanthus - anogenital and renal malformations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	4391472	\N	\N	EFO	6	EFO	genetic disorder	Syndactyly - telecanthus - anogenital and renal malformations
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	3183647	\N	\N	EFO	5	EFO	genetic disorder	Syndactyly - telecanthus - anogenital and renal malformations
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	3183648	\N	\N	EFO	5	EFO	bone disease	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	3183649	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly - telecanthus - anogenital and renal malformations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	5059608	\N	\N	EFO	7	EFO	disease	Syndactyly - telecanthus - anogenital and renal malformations
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	4391471	\N	\N	EFO	6	EFO	skeletal system disease	Syndactyly - telecanthus - anogenital and renal malformations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	5876778	\N	\N	EFO	8	EFO	disposition	Syndactyly - telecanthus - anogenital and renal malformations
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	5410585	\N	\N	EFO	7	EFO	disease	Syndactyly - telecanthus - anogenital and renal malformations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	6469990	\N	\N	EFO	9	EFO	material property	Syndactyly - telecanthus - anogenital and renal malformations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140952	"This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." []	6848291	\N	\N	EFO	10	EFO	experimental factor	Syndactyly - telecanthus - anogenital and renal malformations
Orphanet:140957	\N	\N	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	73581	\N	\N	EFO	0	EFO	Autosomal dominant macrothrombocytopenia	Autosomal dominant macrothrombocytopenia
Orphanet:220452	Orphanet:140957	\N	"" []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	215011	\N	\N	EFO	1	EFO	Inherited giant platelet disorder	Autosomal dominant macrothrombocytopenia
Orphanet:275729	Orphanet:220452	\N	"" []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	569107	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Autosomal dominant macrothrombocytopenia
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	1150841	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Autosomal dominant macrothrombocytopenia
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	2033144	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Autosomal dominant macrothrombocytopenia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	3183651	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Autosomal dominant macrothrombocytopenia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	4391474	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant macrothrombocytopenia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	4391475	\N	\N	EFO	6	EFO	hematological system disease	Autosomal dominant macrothrombocytopenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	5410587	\N	\N	EFO	7	EFO	disease	Autosomal dominant macrothrombocytopenia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	5410588	\N	\N	EFO	7	EFO	disease	Autosomal dominant macrothrombocytopenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	6148215	\N	\N	EFO	8	EFO	disposition	Autosomal dominant macrothrombocytopenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	6632105	\N	\N	EFO	9	EFO	material property	Autosomal dominant macrothrombocytopenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140957	"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." []	6925401	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant macrothrombocytopenia
Orphanet:140963	\N	\N	"" []	Orphanet:140963	"" []	73582	\N	\N	EFO	0	EFO	Bilateral microtia - deafness - cleft palate	Bilateral microtia - deafness - cleft palate
Orphanet:139039	Orphanet:140963	\N	"" []	Orphanet:140963	"" []	215012	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Bilateral microtia - deafness - cleft palate
Orphanet:90642	Orphanet:140963	\N	"" []	Orphanet:140963	"" []	215013	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Bilateral microtia - deafness - cleft palate
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:140963	"" []	569108	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Bilateral microtia - deafness - cleft palate
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:140963	"" []	569109	\N	\N	EFO	2	EFO	Rare genetic deafness	Bilateral microtia - deafness - cleft palate
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:140963	"" []	1150842	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Bilateral microtia - deafness - cleft palate
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140963	"" []	1150843	\N	\N	EFO	3	EFO	genetic disorder	Bilateral microtia - deafness - cleft palate
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:140963	"" []	1150844	\N	\N	EFO	3	EFO	auditory system disease	Bilateral microtia - deafness - cleft palate
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:140963	"" []	2033145	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Bilateral microtia - deafness - cleft palate
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140963	"" []	5410589	\N	\N	EFO	7	EFO	disease	Bilateral microtia - deafness - cleft palate
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:140963	"" []	2033147	\N	\N	EFO	4	EFO	sensory system disease	Bilateral microtia - deafness - cleft palate
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:140963	"" []	3183652	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Bilateral microtia - deafness - cleft palate
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140963	"" []	5817484	\N	\N	EFO	8	EFO	disposition	Bilateral microtia - deafness - cleft palate
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:140963	"" []	3183654	\N	\N	EFO	5	EFO	nervous system disease	Bilateral microtia - deafness - cleft palate
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140963	"" []	4391476	\N	\N	EFO	6	EFO	genetic disorder	Bilateral microtia - deafness - cleft palate
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140963	"" []	6409844	\N	\N	EFO	9	EFO	material property	Bilateral microtia - deafness - cleft palate
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140963	"" []	4391478	\N	\N	EFO	6	EFO	disease	Bilateral microtia - deafness - cleft palate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140963	"" []	6807700	\N	\N	EFO	10	EFO	experimental factor	Bilateral microtia - deafness - cleft palate
Orphanet:140966	\N	\N	"" []	Orphanet:140966	"" []	73583	\N	\N	EFO	0	EFO	Palmoplantar keratoderma, Nagashima type	Palmoplantar keratoderma, Nagashima type
Orphanet:98356	Orphanet:140966	\N	"" []	Orphanet:140966	"" []	215014	\N	\N	EFO	1	EFO	Autosomal recessive isolated diffuse palmoplantar keratoderma	Palmoplantar keratoderma, Nagashima type
Orphanet:307148	Orphanet:98356	\N	"" []	Orphanet:140966	"" []	569110	\N	\N	EFO	2	EFO	Isolated diffuse palmoplantar keratoderma	Palmoplantar keratoderma, Nagashima type
Orphanet:307141	Orphanet:307148	\N	"" []	Orphanet:140966	"" []	1150845	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Palmoplantar keratoderma, Nagashima type
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:140966	"" []	2033148	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Palmoplantar keratoderma, Nagashima type
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:140966	"" []	3183655	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Palmoplantar keratoderma, Nagashima type
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:140966	"" []	4391479	\N	\N	EFO	6	EFO	Rare genetic skin disease	Palmoplantar keratoderma, Nagashima type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140966	"" []	5410592	\N	\N	EFO	7	EFO	genetic disorder	Palmoplantar keratoderma, Nagashima type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:140966	"" []	5410593	\N	\N	EFO	7	EFO	skin disease	Palmoplantar keratoderma, Nagashima type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140966	"" []	6148216	\N	\N	EFO	8	EFO	disease	Palmoplantar keratoderma, Nagashima type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140966	"" []	6148217	\N	\N	EFO	8	EFO	disease	Palmoplantar keratoderma, Nagashima type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140966	"" []	6632106	\N	\N	EFO	9	EFO	disposition	Palmoplantar keratoderma, Nagashima type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140966	"" []	6925402	\N	\N	EFO	10	EFO	material property	Palmoplantar keratoderma, Nagashima type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140966	"" []	7099008	\N	\N	EFO	11	EFO	experimental factor	Palmoplantar keratoderma, Nagashima type
Orphanet:140969	\N	\N	"" []	Orphanet:140969	"" []	73584	\N	\N	EFO	0	EFO	Saldino-Mainzer syndrome	Saldino-Mainzer syndrome
Orphanet:93436	Orphanet:140969	\N	"" []	Orphanet:140969	"" []	215015	\N	\N	EFO	1	EFO	Acromelic dysplasia	Saldino-Mainzer syndrome
Orphanet:93547	Orphanet:140969	\N	"" []	Orphanet:140969	"" []	215016	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Saldino-Mainzer syndrome
Orphanet:98661	Orphanet:140969	\N	"" []	Orphanet:140969	"" []	215017	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Saldino-Mainzer syndrome
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:140969	"" []	569111	\N	\N	EFO	2	EFO	Primary bone dysplasia	Saldino-Mainzer syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:140969	"" []	569112	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Saldino-Mainzer syndrome
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:140969	"" []	569113	\N	\N	EFO	2	EFO	Retinal dystrophy	Saldino-Mainzer syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:140969	"" []	1150846	\N	\N	EFO	3	EFO	Rare genetic bone disease	Saldino-Mainzer syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:140969	"" []	1150847	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Saldino-Mainzer syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:140969	"" []	1150848	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Saldino-Mainzer syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:140969	"" []	1150849	\N	\N	EFO	3	EFO	Rare genetic renal disease	Saldino-Mainzer syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:140969	"" []	1150850	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Saldino-Mainzer syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140969	"" []	2033149	\N	\N	EFO	4	EFO	genetic disorder	Saldino-Mainzer syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:140969	"" []	2033150	\N	\N	EFO	4	EFO	bone disease	Saldino-Mainzer syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:140969	"" []	2033151	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Saldino-Mainzer syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140969	"" []	3183658	\N	\N	EFO	5	EFO	genetic disorder	Saldino-Mainzer syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140969	"" []	2033153	\N	\N	EFO	4	EFO	genetic disorder	Saldino-Mainzer syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:140969	"" []	2033154	\N	\N	EFO	4	EFO	Rare genetic eye disease	Saldino-Mainzer syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140969	"" []	4133305	\N	\N	EFO	6	EFO	disease	Saldino-Mainzer syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:140969	"" []	3183657	\N	\N	EFO	5	EFO	skeletal system disease	Saldino-Mainzer syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140969	"" []	3183659	\N	\N	EFO	5	EFO	genetic disorder	Saldino-Mainzer syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:140969	"" []	3183660	\N	\N	EFO	5	EFO	eye disease	Saldino-Mainzer syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140969	"" []	5181607	\N	\N	EFO	7	EFO	disposition	Saldino-Mainzer syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140969	"" []	4391481	\N	\N	EFO	6	EFO	disease	Saldino-Mainzer syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140969	"" []	4391482	\N	\N	EFO	6	EFO	disease	Saldino-Mainzer syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140969	"" []	5996985	\N	\N	EFO	8	EFO	material property	Saldino-Mainzer syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140969	"" []	6550550	\N	\N	EFO	9	EFO	experimental factor	Saldino-Mainzer syndrome
Orphanet:140976	\N	\N	"" []	Orphanet:140976	"" []	73585	\N	\N	EFO	0	EFO	RHYNS syndrome	RHYNS syndrome
Orphanet:93587	Orphanet:140976	\N	"" []	Orphanet:140976	"" []	215018	\N	\N	EFO	1	EFO	Familial cystic renal disease	RHYNS syndrome
Orphanet:98661	Orphanet:140976	\N	"" []	Orphanet:140976	"" []	215019	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	RHYNS syndrome
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:140976	"" []	569114	\N	\N	EFO	2	EFO	kidney disease	RHYNS syndrome
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:140976	"" []	569115	\N	\N	EFO	2	EFO	Rare genetic renal disease	RHYNS syndrome
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:140976	"" []	569116	\N	\N	EFO	2	EFO	Retinal dystrophy	RHYNS syndrome
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140976	"" []	1150851	\N	\N	EFO	3	EFO	disease	RHYNS syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140976	"" []	1150852	\N	\N	EFO	3	EFO	genetic disorder	RHYNS syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:140976	"" []	1150853	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	RHYNS syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140976	"" []	5059609	\N	\N	EFO	7	EFO	disposition	RHYNS syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140976	"" []	4391484	\N	\N	EFO	6	EFO	disease	RHYNS syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:140976	"" []	2033157	\N	\N	EFO	4	EFO	Rare genetic eye disease	RHYNS syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140976	"" []	5817485	\N	\N	EFO	8	EFO	material property	RHYNS syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140976	"" []	3183663	\N	\N	EFO	5	EFO	genetic disorder	RHYNS syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:140976	"" []	3183664	\N	\N	EFO	5	EFO	eye disease	RHYNS syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140976	"" []	6409845	\N	\N	EFO	9	EFO	experimental factor	RHYNS syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140976	"" []	4391485	\N	\N	EFO	6	EFO	disease	RHYNS syndrome
Orphanet:140989	\N	\N	"" []	Orphanet:140989	"" []	73586	\N	\N	EFO	0	EFO	Primary central nervous system vasculitis	Primary central nervous system vasculitis
Orphanet:183503	Orphanet:140989	\N	"" []	Orphanet:140989	"" []	215020	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Primary central nervous system vasculitis
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:140989	"" []	569117	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Primary central nervous system vasculitis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140989	"" []	1150854	\N	\N	EFO	3	EFO	genetic disorder	Primary central nervous system vasculitis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140989	"" []	2033158	\N	\N	EFO	4	EFO	disease	Primary central nervous system vasculitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140989	"" []	3183665	\N	\N	EFO	5	EFO	disposition	Primary central nervous system vasculitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140989	"" []	4391486	\N	\N	EFO	6	EFO	material property	Primary central nervous system vasculitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140989	"" []	5410595	\N	\N	EFO	7	EFO	experimental factor	Primary central nervous system vasculitis
Orphanet:140997	\N	\N	"" []	Orphanet:140997	"" []	73587	\N	\N	EFO	0	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:140997	"" []	215021	\N	\N	EFO	1	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:140997	"" []	215022	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:140997	"" []	215023	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:140997	"" []	215024	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:140997	"" []	569118	\N	\N	EFO	2	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:140997	"" []	569119	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:140997	"" []	569120	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:140997	"" []	569121	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:140997	"" []	569122	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:140997	"" []	1150855	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Orofaciodigital syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:140997	"" []	1150856	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Orofaciodigital syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140997	"" []	4391489	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:140997	"" []	1150858	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:140997	"" []	1150859	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:140997	"" []	2033159	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140997	"" []	5028386	\N	\N	EFO	7	EFO	disease	Orofaciodigital syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:140997	"" []	2033161	\N	\N	EFO	4	EFO	Rare genetic bone disease	Orofaciodigital syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:140997	"" []	2033162	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:140997	"" []	2033163	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:140997	"" []	5817486	\N	\N	EFO	8	EFO	disposition	Orofaciodigital syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:140997	"" []	3183668	\N	\N	EFO	5	EFO	genetic disorder	Orofaciodigital syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:140997	"" []	3183669	\N	\N	EFO	5	EFO	bone disease	Orofaciodigital syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:140997	"" []	3183670	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:140997	"" []	6409846	\N	\N	EFO	9	EFO	material property	Orofaciodigital syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:140997	"" []	4391488	\N	\N	EFO	6	EFO	skeletal system disease	Orofaciodigital syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:140997	"" []	6807701	\N	\N	EFO	10	EFO	experimental factor	Orofaciodigital syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:140997	"" []	5410597	\N	\N	EFO	7	EFO	disease	Orofaciodigital syndrome
Orphanet:141	\N	\N	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	73588	\N	\N	EFO	0	EFO	Canavan disease	Canavan disease
Orphanet:183500	Orphanet:141	\N	"" []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	215025	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Canavan disease
Orphanet:308448	Orphanet:141	\N	"" []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	215026	\N	\N	EFO	1	EFO	Aminoacylase deficiency	Canavan disease
Orphanet:68356	Orphanet:141	\N	"" []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	215027	\N	\N	EFO	1	EFO	Leukodystrophy	Canavan disease
Orphanet:68385	Orphanet:141	\N	"" []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	215028	\N	\N	EFO	1	EFO	Neurometabolic disease	Canavan disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	569123	\N	\N	EFO	2	EFO	neurodegenerative disease	Canavan disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	569124	\N	\N	EFO	2	EFO	brain disease	Canavan disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	569125	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Canavan disease
Orphanet:79158	Orphanet:308448	\N	"" []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	569126	\N	\N	EFO	2	EFO	Cerebral organic aciduria	Canavan disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	569127	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Canavan disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	569128	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Canavan disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	1150860	\N	\N	EFO	3	EFO	nervous system disease	Canavan disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	1150861	\N	\N	EFO	3	EFO	nervous system disease	Canavan disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	1150862	\N	\N	EFO	3	EFO	genetic disorder	Canavan disease
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	1150863	\N	\N	EFO	3	EFO	Organic aciduria	Canavan disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	2033164	\N	\N	EFO	4	EFO	disease	Canavan disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	5410599	\N	\N	EFO	7	EFO	disease	Canavan disease
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	2033166	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Canavan disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	5817487	\N	\N	EFO	8	EFO	disposition	Canavan disease
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	3183672	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Canavan disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	6409847	\N	\N	EFO	9	EFO	material property	Canavan disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	4391491	\N	\N	EFO	6	EFO	genetic disorder	Canavan disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	4391492	\N	\N	EFO	6	EFO	metabolic disease	Canavan disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	6807702	\N	\N	EFO	10	EFO	experimental factor	Canavan disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	5410600	\N	\N	EFO	7	EFO	disease	Canavan disease
Orphanet:1410	\N	\N	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	Orphanet:1410	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	73589	\N	\N	EFO	0	EFO	Uncombable hair syndrome	Uncombable hair syndrome
Orphanet:79366	Orphanet:1410	\N	"" []	Orphanet:1410	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	215029	\N	\N	EFO	1	EFO	Isolated hair shaft abnormality	Uncombable hair syndrome
Orphanet:183450	Orphanet:79366	\N	"" []	Orphanet:1410	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	569129	\N	\N	EFO	2	EFO	Genetic hair anomaly	Uncombable hair syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:1410	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	1150864	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Uncombable hair syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1410	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	2033167	\N	\N	EFO	4	EFO	Rare genetic skin disease	Uncombable hair syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1410	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	3183673	\N	\N	EFO	5	EFO	genetic disorder	Uncombable hair syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1410	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	3183674	\N	\N	EFO	5	EFO	skin disease	Uncombable hair syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1410	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	4391493	\N	\N	EFO	6	EFO	disease	Uncombable hair syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1410	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	4391494	\N	\N	EFO	6	EFO	disease	Uncombable hair syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1410	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	5410601	\N	\N	EFO	7	EFO	disposition	Uncombable hair syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1410	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	6148219	\N	\N	EFO	8	EFO	material property	Uncombable hair syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1410	"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." []	6632107	\N	\N	EFO	9	EFO	experimental factor	Uncombable hair syndrome
Orphanet:141000	\N	\N	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	73590	\N	\N	EFO	0	EFO	Orofaciodigital syndrome type 11	Orofaciodigital syndrome type 11
Orphanet:140997	Orphanet:141000	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	215030	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome type 11
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	569130	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome type 11
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	569131	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome type 11
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	569132	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome type 11
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	569133	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome type 11
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	1150865	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome type 11
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	1150866	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome type 11
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	1150867	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 11
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	1150868	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome type 11
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	1150869	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome type 11
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	2033168	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 11
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	2033169	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 11
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	5410604	\N	\N	EFO	7	EFO	genetic disorder	Orofaciodigital syndrome type 11
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	2033171	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome type 11
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	2033172	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome type 11
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	3183675	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	5817488	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 11
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	3183677	\N	\N	EFO	5	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 11
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	3183678	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 11
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	3183679	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	6409848	\N	\N	EFO	9	EFO	disposition	Orofaciodigital syndrome type 11
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	4391497	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome type 11
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	4391498	\N	\N	EFO	6	EFO	bone disease	Orofaciodigital syndrome type 11
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	4391499	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	6807703	\N	\N	EFO	10	EFO	material property	Orofaciodigital syndrome type 11
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	5410603	\N	\N	EFO	7	EFO	skeletal system disease	Orofaciodigital syndrome type 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	7048550	\N	\N	EFO	11	EFO	experimental factor	Orofaciodigital syndrome type 11
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141000	"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." []	6148221	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 11
Orphanet:141007	\N	\N	"" []	Orphanet:141007	"" []	73591	\N	\N	EFO	0	EFO	Orofaciodigital syndrome type 9	Orofaciodigital syndrome type 9
Orphanet:140997	Orphanet:141007	\N	"" []	Orphanet:141007	"" []	215031	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome type 9
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:141007	"" []	569134	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome type 9
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:141007	"" []	569135	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome type 9
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:141007	"" []	569136	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome type 9
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:141007	"" []	569137	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome type 9
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:141007	"" []	1150870	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome type 9
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:141007	"" []	1150871	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome type 9
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:141007	"" []	1150872	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 9
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:141007	"" []	1150873	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome type 9
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:141007	"" []	1150874	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome type 9
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:141007	"" []	2033173	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 9
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:141007	"" []	2033174	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 9
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141007	"" []	5410607	\N	\N	EFO	7	EFO	genetic disorder	Orofaciodigital syndrome type 9
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:141007	"" []	2033176	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome type 9
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:141007	"" []	2033177	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome type 9
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141007	"" []	3183680	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141007	"" []	5817489	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 9
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:141007	"" []	3183682	\N	\N	EFO	5	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 9
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:141007	"" []	3183683	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 9
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:141007	"" []	3183684	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141007	"" []	6409849	\N	\N	EFO	9	EFO	disposition	Orofaciodigital syndrome type 9
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141007	"" []	4391502	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome type 9
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:141007	"" []	4391503	\N	\N	EFO	6	EFO	bone disease	Orofaciodigital syndrome type 9
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:141007	"" []	4391504	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141007	"" []	6807704	\N	\N	EFO	10	EFO	material property	Orofaciodigital syndrome type 9
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:141007	"" []	5410606	\N	\N	EFO	7	EFO	skeletal system disease	Orofaciodigital syndrome type 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141007	"" []	7048551	\N	\N	EFO	11	EFO	experimental factor	Orofaciodigital syndrome type 9
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141007	"" []	6148223	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 9
Orphanet:141118	\N	\N	"" []	Orphanet:141118	"" []	73592	\N	\N	EFO	0	EFO	Nasal encephalocele	Nasal encephalocele
Orphanet:199647	Orphanet:141118	\N	"" []	Orphanet:141118	"" []	215032	\N	\N	EFO	1	EFO	Isolated encephalocele	Nasal encephalocele
Orphanet:268817	Orphanet:199647	\N	"" []	Orphanet:141118	"" []	569138	\N	\N	EFO	2	EFO	Cephalocele	Nasal encephalocele
Orphanet:268357	Orphanet:268817	\N	"" []	Orphanet:141118	"" []	1150875	\N	\N	EFO	3	EFO	Neural tube closure defect	Nasal encephalocele
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:141118	"" []	2033178	\N	\N	EFO	4	EFO	Neural tube defect	Nasal encephalocele
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:141118	"" []	3183685	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Nasal encephalocele
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:141118	"" []	4391505	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Nasal encephalocele
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:141118	"" []	5410608	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Nasal encephalocele
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:141118	"" []	5410609	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Nasal encephalocele
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141118	"" []	6148224	\N	\N	EFO	8	EFO	genetic disorder	Nasal encephalocele
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141118	"" []	6148225	\N	\N	EFO	8	EFO	genetic disorder	Nasal encephalocele
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141118	"" []	6632108	\N	\N	EFO	9	EFO	disease	Nasal encephalocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141118	"" []	6925403	\N	\N	EFO	10	EFO	disposition	Nasal encephalocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141118	"" []	7099009	\N	\N	EFO	11	EFO	material property	Nasal encephalocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141118	"" []	7208290	\N	\N	EFO	12	EFO	experimental factor	Nasal encephalocele
Orphanet:141127	\N	\N	"" []	Orphanet:141127	"" []	73593	\N	\N	EFO	0	EFO	Congenital tracheal stenosis	Congenital tracheal stenosis
Orphanet:156252	Orphanet:141127	\N	"" []	Orphanet:141127	"" []	215033	\N	\N	EFO	1	EFO	Tracheal anomaly	Congenital tracheal stenosis
Orphanet:96333	Orphanet:156252	\N	"" []	Orphanet:141127	"" []	569139	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Congenital tracheal stenosis
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:141127	"" []	1150876	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Congenital tracheal stenosis
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141127	"" []	2033179	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital tracheal stenosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141127	"" []	3183686	\N	\N	EFO	5	EFO	genetic disorder	Congenital tracheal stenosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141127	"" []	4391506	\N	\N	EFO	6	EFO	disease	Congenital tracheal stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141127	"" []	5410610	\N	\N	EFO	7	EFO	disposition	Congenital tracheal stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141127	"" []	6148226	\N	\N	EFO	8	EFO	material property	Congenital tracheal stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141127	"" []	6632109	\N	\N	EFO	9	EFO	experimental factor	Congenital tracheal stenosis
Orphanet:141132	\N	\N	"" []	Orphanet:141132	"" []	73594	\N	\N	EFO	0	EFO	Oculo-auriculo-vertebral spectrum	Oculo-auriculo-vertebral spectrum
Orphanet:155896	Orphanet:141132	\N	"" []	Orphanet:141132	"" []	215034	\N	\N	EFO	1	EFO	Otomandibular dysplasia	Oculo-auriculo-vertebral spectrum
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:141132	"" []	569140	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Oculo-auriculo-vertebral spectrum
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:141132	"" []	1150877	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Oculo-auriculo-vertebral spectrum
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141132	"" []	2033180	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Oculo-auriculo-vertebral spectrum
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141132	"" []	3183687	\N	\N	EFO	5	EFO	genetic disorder	Oculo-auriculo-vertebral spectrum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141132	"" []	4391507	\N	\N	EFO	6	EFO	disease	Oculo-auriculo-vertebral spectrum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141132	"" []	5410611	\N	\N	EFO	7	EFO	disposition	Oculo-auriculo-vertebral spectrum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141132	"" []	6148227	\N	\N	EFO	8	EFO	material property	Oculo-auriculo-vertebral spectrum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141132	"" []	6632110	\N	\N	EFO	9	EFO	experimental factor	Oculo-auriculo-vertebral spectrum
Orphanet:141136	\N	\N	"" []	Orphanet:141136	"" []	73595	\N	\N	EFO	0	EFO	Hemifacial microsomia	Hemifacial microsomia
Orphanet:141132	Orphanet:141136	\N	"" []	Orphanet:141136	"" []	215035	\N	\N	EFO	1	EFO	Oculo-auriculo-vertebral spectrum	Hemifacial microsomia
Orphanet:155896	Orphanet:141132	\N	"" []	Orphanet:141136	"" []	569141	\N	\N	EFO	2	EFO	Otomandibular dysplasia	Hemifacial microsomia
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:141136	"" []	1150878	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Hemifacial microsomia
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:141136	"" []	2033181	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Hemifacial microsomia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141136	"" []	3183688	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hemifacial microsomia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141136	"" []	4391508	\N	\N	EFO	6	EFO	genetic disorder	Hemifacial microsomia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141136	"" []	5410612	\N	\N	EFO	7	EFO	disease	Hemifacial microsomia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141136	"" []	6148228	\N	\N	EFO	8	EFO	disposition	Hemifacial microsomia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141136	"" []	6632111	\N	\N	EFO	9	EFO	material property	Hemifacial microsomia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141136	"" []	6925404	\N	\N	EFO	10	EFO	experimental factor	Hemifacial microsomia
Orphanet:141145	\N	\N	"" []	Orphanet:141145	"" []	73596	\N	\N	EFO	0	EFO	Hemifacial hypertrophy	Hemifacial hypertrophy
Orphanet:156207	Orphanet:141145	\N	"" []	Orphanet:141145	"" []	215036	\N	\N	EFO	1	EFO	Macroglossia	Hemifacial hypertrophy
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:141145	"" []	569142	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Hemifacial hypertrophy
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141145	"" []	1150879	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hemifacial hypertrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141145	"" []	2033182	\N	\N	EFO	4	EFO	genetic disorder	Hemifacial hypertrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141145	"" []	3183689	\N	\N	EFO	5	EFO	disease	Hemifacial hypertrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141145	"" []	4391509	\N	\N	EFO	6	EFO	disposition	Hemifacial hypertrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141145	"" []	5410613	\N	\N	EFO	7	EFO	material property	Hemifacial hypertrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141145	"" []	6148229	\N	\N	EFO	8	EFO	experimental factor	Hemifacial hypertrophy
Orphanet:141152	\N	\N	"" []	Orphanet:141152	"" []	73597	\N	\N	EFO	0	EFO	Isolated congenital hypoglossia/aglossia	Isolated congenital hypoglossia/aglossia
Orphanet:156212	Orphanet:141152	\N	"" []	Orphanet:141152	"" []	215037	\N	\N	EFO	1	EFO	Hypoglossia/aglossia	Isolated congenital hypoglossia/aglossia
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:141152	"" []	569143	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Isolated congenital hypoglossia/aglossia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141152	"" []	1150880	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Isolated congenital hypoglossia/aglossia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141152	"" []	2033183	\N	\N	EFO	4	EFO	genetic disorder	Isolated congenital hypoglossia/aglossia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141152	"" []	3183690	\N	\N	EFO	5	EFO	disease	Isolated congenital hypoglossia/aglossia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141152	"" []	4391510	\N	\N	EFO	6	EFO	disposition	Isolated congenital hypoglossia/aglossia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141152	"" []	5410614	\N	\N	EFO	7	EFO	material property	Isolated congenital hypoglossia/aglossia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141152	"" []	6148230	\N	\N	EFO	8	EFO	experimental factor	Isolated congenital hypoglossia/aglossia
Orphanet:141163	\N	\N	"" []	Orphanet:141163	"" []	73598	\N	\N	EFO	0	EFO	Glossopalatine ankylosis	Glossopalatine ankylosis
Orphanet:2749	Orphanet:141163	\N	"" []	Orphanet:141163	"" []	215038	\N	\N	EFO	1	EFO	Oromandibular-limb hypogenesis syndrome	Glossopalatine ankylosis
Orphanet:156215	Orphanet:2749	\N	"" []	Orphanet:141163	"" []	569144	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Glossopalatine ankylosis
Orphanet:364571	Orphanet:2749	\N	"" []	Orphanet:141163	"" []	569145	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Glossopalatine ankylosis
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:141163	"" []	1150881	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Glossopalatine ankylosis
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:141163	"" []	1150882	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Glossopalatine ankylosis
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:141163	"" []	2033184	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Glossopalatine ankylosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:141163	"" []	2033185	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Glossopalatine ankylosis
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141163	"" []	3183691	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Glossopalatine ankylosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:141163	"" []	3183692	\N	\N	EFO	5	EFO	Rare genetic bone disease	Glossopalatine ankylosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:141163	"" []	3183693	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Glossopalatine ankylosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141163	"" []	5410617	\N	\N	EFO	7	EFO	genetic disorder	Glossopalatine ankylosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141163	"" []	4391512	\N	\N	EFO	6	EFO	genetic disorder	Glossopalatine ankylosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:141163	"" []	4391513	\N	\N	EFO	6	EFO	bone disease	Glossopalatine ankylosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:141163	"" []	4391514	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Glossopalatine ankylosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141163	"" []	5996986	\N	\N	EFO	8	EFO	disease	Glossopalatine ankylosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:141163	"" []	5410616	\N	\N	EFO	7	EFO	skeletal system disease	Glossopalatine ankylosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141163	"" []	6550551	\N	\N	EFO	9	EFO	disposition	Glossopalatine ankylosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141163	"" []	6148232	\N	\N	EFO	8	EFO	disease	Glossopalatine ankylosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141163	"" []	6889036	\N	\N	EFO	10	EFO	material property	Glossopalatine ankylosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141163	"" []	7085901	\N	\N	EFO	11	EFO	experimental factor	Glossopalatine ankylosis
Orphanet:1412	\N	\N	"" []	Orphanet:1412	"" []	73599	\N	\N	EFO	0	EFO	Tarsal-carpal coalition syndrome	Tarsal-carpal coalition syndrome
Orphanet:93459	Orphanet:1412	\N	"" []	Orphanet:1412	"" []	215039	\N	\N	EFO	1	EFO	Syndrome with synostosis or other joint formation defect	Tarsal-carpal coalition syndrome
Orphanet:404571	Orphanet:93459	\N	"" []	Orphanet:1412	"" []	569146	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Tarsal-carpal coalition syndrome
Orphanet:404577	Orphanet:93459	\N	"" []	Orphanet:1412	"" []	569147	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Tarsal-carpal coalition syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1412	"" []	1150883	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Tarsal-carpal coalition syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1412	"" []	1150884	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Tarsal-carpal coalition syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1412	"" []	2033186	\N	\N	EFO	4	EFO	Rare genetic bone disease	Tarsal-carpal coalition syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1412	"" []	2033187	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Tarsal-carpal coalition syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1412	"" []	2033188	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Tarsal-carpal coalition syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1412	"" []	3183694	\N	\N	EFO	5	EFO	genetic disorder	Tarsal-carpal coalition syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1412	"" []	3183695	\N	\N	EFO	5	EFO	bone disease	Tarsal-carpal coalition syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1412	"" []	3183696	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Tarsal-carpal coalition syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1412	"" []	4391517	\N	\N	EFO	6	EFO	genetic disorder	Tarsal-carpal coalition syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1412	"" []	5181609	\N	\N	EFO	7	EFO	disease	Tarsal-carpal coalition syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1412	"" []	4391516	\N	\N	EFO	6	EFO	skeletal system disease	Tarsal-carpal coalition syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1412	"" []	5996987	\N	\N	EFO	8	EFO	disposition	Tarsal-carpal coalition syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1412	"" []	5410619	\N	\N	EFO	7	EFO	disease	Tarsal-carpal coalition syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1412	"" []	6550552	\N	\N	EFO	9	EFO	material property	Tarsal-carpal coalition syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1412	"" []	6889037	\N	\N	EFO	10	EFO	experimental factor	Tarsal-carpal coalition syndrome
Orphanet:141253	\N	\N	"" []	Orphanet:141253	"" []	73600	\N	\N	EFO	0	EFO	Oblique facial cleft	Oblique facial cleft
Orphanet:183583	Orphanet:141253	\N	"" []	Orphanet:141253	"" []	215040	\N	\N	EFO	1	EFO	Genetic head and neck malformation	Oblique facial cleft
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141253	"" []	569148	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Oblique facial cleft
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141253	"" []	1150885	\N	\N	EFO	3	EFO	genetic disorder	Oblique facial cleft
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141253	"" []	2033189	\N	\N	EFO	4	EFO	disease	Oblique facial cleft
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141253	"" []	3183698	\N	\N	EFO	5	EFO	disposition	Oblique facial cleft
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141253	"" []	4391518	\N	\N	EFO	6	EFO	material property	Oblique facial cleft
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141253	"" []	5410620	\N	\N	EFO	7	EFO	experimental factor	Oblique facial cleft
Orphanet:141258	\N	\N	"" []	Orphanet:141258	"" []	73601	\N	\N	EFO	0	EFO	Tessier number 4 facial cleft	Tessier number 4 facial cleft
Orphanet:141253	Orphanet:141258	\N	"" []	Orphanet:141258	"" []	215041	\N	\N	EFO	1	EFO	Oblique facial cleft	Tessier number 4 facial cleft
Orphanet:183583	Orphanet:141253	\N	"" []	Orphanet:141258	"" []	569149	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Tessier number 4 facial cleft
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141258	"" []	1150886	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Tessier number 4 facial cleft
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141258	"" []	2033190	\N	\N	EFO	4	EFO	genetic disorder	Tessier number 4 facial cleft
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141258	"" []	3183699	\N	\N	EFO	5	EFO	disease	Tessier number 4 facial cleft
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141258	"" []	4391519	\N	\N	EFO	6	EFO	disposition	Tessier number 4 facial cleft
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141258	"" []	5410621	\N	\N	EFO	7	EFO	material property	Tessier number 4 facial cleft
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141258	"" []	6148234	\N	\N	EFO	8	EFO	experimental factor	Tessier number 4 facial cleft
Orphanet:141261	\N	\N	"" []	Orphanet:141261	"" []	73602	\N	\N	EFO	0	EFO	Tessier number 5 facial cleft	Tessier number 5 facial cleft
Orphanet:141253	Orphanet:141261	\N	"" []	Orphanet:141261	"" []	215042	\N	\N	EFO	1	EFO	Oblique facial cleft	Tessier number 5 facial cleft
Orphanet:183583	Orphanet:141253	\N	"" []	Orphanet:141261	"" []	569150	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Tessier number 5 facial cleft
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141261	"" []	1150887	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Tessier number 5 facial cleft
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141261	"" []	2033191	\N	\N	EFO	4	EFO	genetic disorder	Tessier number 5 facial cleft
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141261	"" []	3183700	\N	\N	EFO	5	EFO	disease	Tessier number 5 facial cleft
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141261	"" []	4391520	\N	\N	EFO	6	EFO	disposition	Tessier number 5 facial cleft
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141261	"" []	5410622	\N	\N	EFO	7	EFO	material property	Tessier number 5 facial cleft
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141261	"" []	6148235	\N	\N	EFO	8	EFO	experimental factor	Tessier number 5 facial cleft
Orphanet:141265	\N	\N	"" []	Orphanet:141265	"" []	73603	\N	\N	EFO	0	EFO	Tessier number 6 facial cleft	Tessier number 6 facial cleft
Orphanet:141253	Orphanet:141265	\N	"" []	Orphanet:141265	"" []	215043	\N	\N	EFO	1	EFO	Oblique facial cleft	Tessier number 6 facial cleft
Orphanet:183583	Orphanet:141253	\N	"" []	Orphanet:141265	"" []	569151	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Tessier number 6 facial cleft
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141265	"" []	1150888	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Tessier number 6 facial cleft
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141265	"" []	2033192	\N	\N	EFO	4	EFO	genetic disorder	Tessier number 6 facial cleft
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141265	"" []	3183701	\N	\N	EFO	5	EFO	disease	Tessier number 6 facial cleft
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141265	"" []	4391521	\N	\N	EFO	6	EFO	disposition	Tessier number 6 facial cleft
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141265	"" []	5410623	\N	\N	EFO	7	EFO	material property	Tessier number 6 facial cleft
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141265	"" []	6148236	\N	\N	EFO	8	EFO	experimental factor	Tessier number 6 facial cleft
Orphanet:141269	\N	\N	"" []	Orphanet:141269	"" []	73604	\N	\N	EFO	0	EFO	Lateral facial cleft	Lateral facial cleft
Orphanet:183583	Orphanet:141269	\N	"" []	Orphanet:141269	"" []	215044	\N	\N	EFO	1	EFO	Genetic head and neck malformation	Lateral facial cleft
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141269	"" []	569152	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Lateral facial cleft
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141269	"" []	1150889	\N	\N	EFO	3	EFO	genetic disorder	Lateral facial cleft
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141269	"" []	2033193	\N	\N	EFO	4	EFO	disease	Lateral facial cleft
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141269	"" []	3183702	\N	\N	EFO	5	EFO	disposition	Lateral facial cleft
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141269	"" []	4391522	\N	\N	EFO	6	EFO	material property	Lateral facial cleft
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141269	"" []	5410624	\N	\N	EFO	7	EFO	experimental factor	Lateral facial cleft
Orphanet:141276	\N	\N	"" []	Orphanet:141276	"" []	73605	\N	\N	EFO	0	EFO	Commissural facial cleft	Commissural facial cleft
Orphanet:141269	Orphanet:141276	\N	"" []	Orphanet:141276	"" []	215045	\N	\N	EFO	1	EFO	Lateral facial cleft	Commissural facial cleft
Orphanet:183583	Orphanet:141269	\N	"" []	Orphanet:141276	"" []	569153	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Commissural facial cleft
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141276	"" []	1150890	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Commissural facial cleft
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141276	"" []	2033194	\N	\N	EFO	4	EFO	genetic disorder	Commissural facial cleft
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141276	"" []	3183703	\N	\N	EFO	5	EFO	disease	Commissural facial cleft
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141276	"" []	4391523	\N	\N	EFO	6	EFO	disposition	Commissural facial cleft
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141276	"" []	5410625	\N	\N	EFO	7	EFO	material property	Commissural facial cleft
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141276	"" []	6148237	\N	\N	EFO	8	EFO	experimental factor	Commissural facial cleft
Orphanet:141327	\N	\N	"" []	Orphanet:141327	"" []	73606	\N	\N	EFO	0	EFO	Orofaciodigital syndrome type 12	Orofaciodigital syndrome type 12
Orphanet:140997	Orphanet:141327	\N	"" []	Orphanet:141327	"" []	215046	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome type 12
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:141327	"" []	569154	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome type 12
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:141327	"" []	569155	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome type 12
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:141327	"" []	569156	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome type 12
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:141327	"" []	569157	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome type 12
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:141327	"" []	1150891	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome type 12
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:141327	"" []	1150892	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome type 12
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:141327	"" []	1150893	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 12
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:141327	"" []	1150894	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome type 12
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:141327	"" []	1150895	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome type 12
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:141327	"" []	2033195	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 12
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:141327	"" []	2033196	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 12
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141327	"" []	5410628	\N	\N	EFO	7	EFO	genetic disorder	Orofaciodigital syndrome type 12
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:141327	"" []	2033198	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome type 12
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:141327	"" []	2033199	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome type 12
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141327	"" []	3183704	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 12
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141327	"" []	5817490	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 12
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:141327	"" []	3183706	\N	\N	EFO	5	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 12
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:141327	"" []	3183707	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 12
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:141327	"" []	3183708	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 12
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141327	"" []	6409850	\N	\N	EFO	9	EFO	disposition	Orofaciodigital syndrome type 12
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141327	"" []	4391526	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome type 12
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:141327	"" []	4391527	\N	\N	EFO	6	EFO	bone disease	Orofaciodigital syndrome type 12
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:141327	"" []	4391528	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 12
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141327	"" []	6807705	\N	\N	EFO	10	EFO	material property	Orofaciodigital syndrome type 12
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:141327	"" []	5410627	\N	\N	EFO	7	EFO	skeletal system disease	Orofaciodigital syndrome type 12
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141327	"" []	7048552	\N	\N	EFO	11	EFO	experimental factor	Orofaciodigital syndrome type 12
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141327	"" []	6148239	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 12
Orphanet:141330	\N	\N	"" []	Orphanet:141330	"" []	73607	\N	\N	EFO	0	EFO	Orofaciodigital syndrome type 13	Orofaciodigital syndrome type 13
Orphanet:140997	Orphanet:141330	\N	"" []	Orphanet:141330	"" []	215047	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome type 13
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:141330	"" []	569158	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome type 13
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:141330	"" []	569159	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome type 13
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:141330	"" []	569160	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome type 13
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:141330	"" []	569161	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome type 13
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:141330	"" []	1150896	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome type 13
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:141330	"" []	1150897	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome type 13
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:141330	"" []	1150898	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 13
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:141330	"" []	1150899	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome type 13
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:141330	"" []	1150900	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome type 13
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:141330	"" []	2033200	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 13
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:141330	"" []	2033201	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 13
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141330	"" []	5410631	\N	\N	EFO	7	EFO	genetic disorder	Orofaciodigital syndrome type 13
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:141330	"" []	2033203	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome type 13
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:141330	"" []	2033204	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome type 13
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:141330	"" []	3183709	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 13
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141330	"" []	5817491	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 13
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:141330	"" []	3183711	\N	\N	EFO	5	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 13
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:141330	"" []	3183712	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 13
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:141330	"" []	3183713	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 13
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141330	"" []	6409851	\N	\N	EFO	9	EFO	disposition	Orofaciodigital syndrome type 13
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141330	"" []	4391531	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome type 13
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:141330	"" []	4391532	\N	\N	EFO	6	EFO	bone disease	Orofaciodigital syndrome type 13
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:141330	"" []	4391533	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 13
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141330	"" []	6807706	\N	\N	EFO	10	EFO	material property	Orofaciodigital syndrome type 13
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:141330	"" []	5410630	\N	\N	EFO	7	EFO	skeletal system disease	Orofaciodigital syndrome type 13
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141330	"" []	7048553	\N	\N	EFO	11	EFO	experimental factor	Orofaciodigital syndrome type 13
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141330	"" []	6148241	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 13
Orphanet:141333	\N	\N	"" []	Orphanet:141333	"" []	73608	\N	\N	EFO	0	EFO	Biemond syndrome type 2	Biemond syndrome type 2
Orphanet:102283	Orphanet:141333	\N	"" []	Orphanet:141333	"" []	215048	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Biemond syndrome type 2
Orphanet:183763	Orphanet:141333	\N	"" []	Orphanet:141333	"" []	215049	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Biemond syndrome type 2
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:141333	"" []	569162	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Biemond syndrome type 2
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:141333	"" []	569163	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Biemond syndrome type 2
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:141333	"" []	1150901	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Biemond syndrome type 2
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:141333	"" []	1150902	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Biemond syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141333	"" []	2033205	\N	\N	EFO	4	EFO	genetic disorder	Biemond syndrome type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:141333	"" []	2033206	\N	\N	EFO	4	EFO	genetic disorder	Biemond syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:141333	"" []	3183714	\N	\N	EFO	5	EFO	disease	Biemond syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:141333	"" []	4391534	\N	\N	EFO	6	EFO	disposition	Biemond syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:141333	"" []	5410632	\N	\N	EFO	7	EFO	material property	Biemond syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:141333	"" []	6148242	\N	\N	EFO	8	EFO	experimental factor	Biemond syndrome type 2
Orphanet:1414	\N	\N	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	73609	\N	\N	EFO	0	EFO	Cholestasis-lymphedema syndrome	Cholestasis-lymphedema syndrome
Orphanet:156604	Orphanet:1414	\N	"" []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	215050	\N	\N	EFO	1	EFO	Genetic parenchymatous liver disease	Cholestasis-lymphedema syndrome
Orphanet:89832	Orphanet:1414	\N	"" []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	215051	\N	\N	EFO	1	EFO	Syndromic lymphedema	Cholestasis-lymphedema syndrome
Orphanet:156601	Orphanet:156604	\N	"" []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	569164	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Cholestasis-lymphedema syndrome
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	569165	\N	\N	EFO	2	EFO	Lymphedema	Cholestasis-lymphedema syndrome
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	1150903	\N	\N	EFO	3	EFO	digestive system disease	Cholestasis-lymphedema syndrome
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	1150904	\N	\N	EFO	3	EFO	genetic disorder	Cholestasis-lymphedema syndrome
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	1150905	\N	\N	EFO	3	EFO	Rare genetic skin disease	Cholestasis-lymphedema syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	2033207	\N	\N	EFO	4	EFO	disease	Cholestasis-lymphedema syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	3183716	\N	\N	EFO	5	EFO	disease	Cholestasis-lymphedema syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	2033209	\N	\N	EFO	4	EFO	genetic disorder	Cholestasis-lymphedema syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	2033210	\N	\N	EFO	4	EFO	skin disease	Cholestasis-lymphedema syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	4133307	\N	\N	EFO	6	EFO	disposition	Cholestasis-lymphedema syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	3183717	\N	\N	EFO	5	EFO	disease	Cholestasis-lymphedema syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	5181610	\N	\N	EFO	7	EFO	material property	Cholestasis-lymphedema syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1414	"Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life." []	5996988	\N	\N	EFO	8	EFO	experimental factor	Cholestasis-lymphedema syndrome
Orphanet:1420	\N	\N	"" []	Orphanet:1420	"" []	73610	\N	\N	EFO	0	EFO	Lethal chondrodysplasia, Moerman type	Lethal chondrodysplasia, Moerman type
Orphanet:93465	Orphanet:1420	\N	"" []	Orphanet:1420	"" []	215052	\N	\N	EFO	1	EFO	Lethal chondrodysplasia	Lethal chondrodysplasia, Moerman type
Orphanet:364526	Orphanet:93465	\N	"" []	Orphanet:1420	"" []	569166	\N	\N	EFO	2	EFO	Primary bone dysplasia	Lethal chondrodysplasia, Moerman type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1420	"" []	1150906	\N	\N	EFO	3	EFO	Rare genetic bone disease	Lethal chondrodysplasia, Moerman type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1420	"" []	1150907	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Lethal chondrodysplasia, Moerman type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1420	"" []	2033211	\N	\N	EFO	4	EFO	genetic disorder	Lethal chondrodysplasia, Moerman type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1420	"" []	2033212	\N	\N	EFO	4	EFO	bone disease	Lethal chondrodysplasia, Moerman type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1420	"" []	2033213	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lethal chondrodysplasia, Moerman type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1420	"" []	4391538	\N	\N	EFO	6	EFO	disease	Lethal chondrodysplasia, Moerman type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1420	"" []	3183719	\N	\N	EFO	5	EFO	skeletal system disease	Lethal chondrodysplasia, Moerman type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1420	"" []	3183720	\N	\N	EFO	5	EFO	genetic disorder	Lethal chondrodysplasia, Moerman type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1420	"" []	5181611	\N	\N	EFO	7	EFO	disposition	Lethal chondrodysplasia, Moerman type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1420	"" []	4391537	\N	\N	EFO	6	EFO	disease	Lethal chondrodysplasia, Moerman type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1420	"" []	5996989	\N	\N	EFO	8	EFO	material property	Lethal chondrodysplasia, Moerman type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1420	"" []	6550553	\N	\N	EFO	9	EFO	experimental factor	Lethal chondrodysplasia, Moerman type
Orphanet:1421	\N	\N	"" []	Orphanet:1421	"" []	73611	\N	\N	EFO	0	EFO	Lethal chondrodysplasia, Seller type	Lethal chondrodysplasia, Seller type
Orphanet:93465	Orphanet:1421	\N	"" []	Orphanet:1421	"" []	215053	\N	\N	EFO	1	EFO	Lethal chondrodysplasia	Lethal chondrodysplasia, Seller type
Orphanet:364526	Orphanet:93465	\N	"" []	Orphanet:1421	"" []	569167	\N	\N	EFO	2	EFO	Primary bone dysplasia	Lethal chondrodysplasia, Seller type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1421	"" []	1150908	\N	\N	EFO	3	EFO	Rare genetic bone disease	Lethal chondrodysplasia, Seller type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1421	"" []	1150909	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Lethal chondrodysplasia, Seller type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1421	"" []	2033214	\N	\N	EFO	4	EFO	genetic disorder	Lethal chondrodysplasia, Seller type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1421	"" []	2033215	\N	\N	EFO	4	EFO	bone disease	Lethal chondrodysplasia, Seller type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1421	"" []	2033216	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lethal chondrodysplasia, Seller type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1421	"" []	4391541	\N	\N	EFO	6	EFO	disease	Lethal chondrodysplasia, Seller type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1421	"" []	3183722	\N	\N	EFO	5	EFO	skeletal system disease	Lethal chondrodysplasia, Seller type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1421	"" []	3183723	\N	\N	EFO	5	EFO	genetic disorder	Lethal chondrodysplasia, Seller type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1421	"" []	5181612	\N	\N	EFO	7	EFO	disposition	Lethal chondrodysplasia, Seller type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1421	"" []	4391540	\N	\N	EFO	6	EFO	disease	Lethal chondrodysplasia, Seller type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1421	"" []	5996990	\N	\N	EFO	8	EFO	material property	Lethal chondrodysplasia, Seller type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1421	"" []	6550554	\N	\N	EFO	9	EFO	experimental factor	Lethal chondrodysplasia, Seller type
Orphanet:1422	\N	\N	"" []	Orphanet:1422	"" []	73612	\N	\N	EFO	0	EFO	Chondrodysplasia - disorder of sex development	Chondrodysplasia - disorder of sex development
Orphanet:325638	Orphanet:1422	\N	"" []	Orphanet:1422	"" []	215054	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Chondrodysplasia - disorder of sex development
Orphanet:364536	Orphanet:1422	\N	"" []	Orphanet:1422	"" []	215055	\N	\N	EFO	1	EFO	Primary bone dysplasia with micromelia	Chondrodysplasia - disorder of sex development
Orphanet:98087	Orphanet:1422	\N	"" []	Orphanet:1422	"" []	215056	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	Chondrodysplasia - disorder of sex development
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:1422	"" []	569168	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Chondrodysplasia - disorder of sex development
Orphanet:364526	Orphanet:364536	\N	"" []	Orphanet:1422	"" []	569169	\N	\N	EFO	2	EFO	Primary bone dysplasia	Chondrodysplasia - disorder of sex development
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:1422	"" []	569170	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Chondrodysplasia - disorder of sex development
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:1422	"" []	1150910	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Chondrodysplasia - disorder of sex development
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1422	"" []	1150911	\N	\N	EFO	3	EFO	Rare genetic bone disease	Chondrodysplasia - disorder of sex development
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1422	"" []	1150912	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Chondrodysplasia - disorder of sex development
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:1422	"" []	1150913	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Chondrodysplasia - disorder of sex development
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1422	"" []	2033217	\N	\N	EFO	4	EFO	genetic disorder	Chondrodysplasia - disorder of sex development
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:1422	"" []	2033218	\N	\N	EFO	4	EFO	reproductive system disease	Chondrodysplasia - disorder of sex development
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1422	"" []	2033219	\N	\N	EFO	4	EFO	genetic disorder	Chondrodysplasia - disorder of sex development
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1422	"" []	2033220	\N	\N	EFO	4	EFO	bone disease	Chondrodysplasia - disorder of sex development
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1422	"" []	2033221	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Chondrodysplasia - disorder of sex development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:1422	"" []	2033222	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Chondrodysplasia - disorder of sex development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:1422	"" []	2033223	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Chondrodysplasia - disorder of sex development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:1422	"" []	2033224	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Chondrodysplasia - disorder of sex development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1422	"" []	4391544	\N	\N	EFO	6	EFO	disease	Chondrodysplasia - disorder of sex development
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1422	"" []	3183725	\N	\N	EFO	5	EFO	disease	Chondrodysplasia - disorder of sex development
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1422	"" []	3183726	\N	\N	EFO	5	EFO	skeletal system disease	Chondrodysplasia - disorder of sex development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1422	"" []	3183727	\N	\N	EFO	5	EFO	genetic disorder	Chondrodysplasia - disorder of sex development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1422	"" []	3183728	\N	\N	EFO	5	EFO	genetic disorder	Chondrodysplasia - disorder of sex development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1422	"" []	3183729	\N	\N	EFO	5	EFO	genetic disorder	Chondrodysplasia - disorder of sex development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1422	"" []	3183730	\N	\N	EFO	5	EFO	endocrine system disease	Chondrodysplasia - disorder of sex development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1422	"" []	5181613	\N	\N	EFO	7	EFO	disposition	Chondrodysplasia - disorder of sex development
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1422	"" []	4391543	\N	\N	EFO	6	EFO	disease	Chondrodysplasia - disorder of sex development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1422	"" []	4391545	\N	\N	EFO	6	EFO	disease	Chondrodysplasia - disorder of sex development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1422	"" []	5996991	\N	\N	EFO	8	EFO	material property	Chondrodysplasia - disorder of sex development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1422	"" []	6550555	\N	\N	EFO	9	EFO	experimental factor	Chondrodysplasia - disorder of sex development
Orphanet:1423	\N	\N	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	73613	\N	\N	EFO	0	EFO	Lethal recessive chondrodysplasia	Lethal recessive chondrodysplasia
Orphanet:93465	Orphanet:1423	\N	"" []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	215057	\N	\N	EFO	1	EFO	Lethal chondrodysplasia	Lethal recessive chondrodysplasia
Orphanet:364526	Orphanet:93465	\N	"" []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	569171	\N	\N	EFO	2	EFO	Primary bone dysplasia	Lethal recessive chondrodysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	1150914	\N	\N	EFO	3	EFO	Rare genetic bone disease	Lethal recessive chondrodysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	1150915	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Lethal recessive chondrodysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	2033225	\N	\N	EFO	4	EFO	genetic disorder	Lethal recessive chondrodysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	2033226	\N	\N	EFO	4	EFO	bone disease	Lethal recessive chondrodysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	2033227	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lethal recessive chondrodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	4391548	\N	\N	EFO	6	EFO	disease	Lethal recessive chondrodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	3183732	\N	\N	EFO	5	EFO	skeletal system disease	Lethal recessive chondrodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	3183733	\N	\N	EFO	5	EFO	genetic disorder	Lethal recessive chondrodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	5181614	\N	\N	EFO	7	EFO	disposition	Lethal recessive chondrodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	4391547	\N	\N	EFO	6	EFO	disease	Lethal recessive chondrodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	5996992	\N	\N	EFO	8	EFO	material property	Lethal recessive chondrodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1423	"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." []	6550556	\N	\N	EFO	9	EFO	experimental factor	Lethal recessive chondrodysplasia
Orphanet:1425	\N	\N	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	73614	\N	\N	EFO	0	EFO	Desbuquois syndrome	Desbuquois syndrome
Orphanet:139030	Orphanet:1425	\N	"" []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	215058	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Desbuquois syndrome
Orphanet:93441	Orphanet:1425	\N	"" []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	215059	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Desbuquois syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	569172	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Desbuquois syndrome
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	569173	\N	\N	EFO	2	EFO	Primary bone dysplasia	Desbuquois syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	3183737	\N	\N	EFO	5	EFO	genetic disorder	Desbuquois syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	1150917	\N	\N	EFO	3	EFO	Rare genetic bone disease	Desbuquois syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	1150918	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Desbuquois syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	4066853	\N	\N	EFO	6	EFO	disease	Desbuquois syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	2033229	\N	\N	EFO	4	EFO	genetic disorder	Desbuquois syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	2033230	\N	\N	EFO	4	EFO	bone disease	Desbuquois syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	2033231	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Desbuquois syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	5059615	\N	\N	EFO	7	EFO	disposition	Desbuquois syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	3183736	\N	\N	EFO	5	EFO	skeletal system disease	Desbuquois syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	5876785	\N	\N	EFO	8	EFO	material property	Desbuquois syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	4391550	\N	\N	EFO	6	EFO	disease	Desbuquois syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1425	"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies." []	6469997	\N	\N	EFO	9	EFO	experimental factor	Desbuquois syndrome
Orphanet:1426	\N	\N	"" []	Orphanet:1426	"" []	73615	\N	\N	EFO	0	EFO	Greenberg dysplasia	Greenberg dysplasia
Orphanet:79195	Orphanet:1426	\N	"" []	Orphanet:1426	"" []	215060	\N	\N	EFO	1	EFO	Sterol biosynthesis disorder	Greenberg dysplasia
Orphanet:93442	Orphanet:1426	\N	"" []	Orphanet:1426	"" []	215061	\N	\N	EFO	1	EFO	Chondrodysplasia punctata	Greenberg dysplasia
Orphanet:139009	Orphanet:79195	\N	"" []	Orphanet:1426	"" []	569174	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Greenberg dysplasia
Orphanet:79226	Orphanet:79195	\N	"" []	Orphanet:1426	"" []	569175	\N	\N	EFO	2	EFO	Sterol metabolism disorder	Greenberg dysplasia
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:1426	"" []	569176	\N	\N	EFO	2	EFO	Primary bone dysplasia	Greenberg dysplasia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:1426	"" []	1150919	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Greenberg dysplasia
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:1426	"" []	1150920	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Greenberg dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1426	"" []	1150921	\N	\N	EFO	3	EFO	Rare genetic bone disease	Greenberg dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1426	"" []	1150922	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Greenberg dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1426	"" []	3183742	\N	\N	EFO	5	EFO	genetic disorder	Greenberg dysplasia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:1426	"" []	2033233	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Greenberg dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1426	"" []	2033234	\N	\N	EFO	4	EFO	genetic disorder	Greenberg dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1426	"" []	2033235	\N	\N	EFO	4	EFO	bone disease	Greenberg dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1426	"" []	2033236	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Greenberg dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1426	"" []	4133309	\N	\N	EFO	6	EFO	disease	Greenberg dysplasia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1426	"" []	3183739	\N	\N	EFO	5	EFO	genetic disorder	Greenberg dysplasia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1426	"" []	3183740	\N	\N	EFO	5	EFO	metabolic disease	Greenberg dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1426	"" []	3183741	\N	\N	EFO	5	EFO	skeletal system disease	Greenberg dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1426	"" []	5181616	\N	\N	EFO	7	EFO	disposition	Greenberg dysplasia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1426	"" []	4391552	\N	\N	EFO	6	EFO	disease	Greenberg dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1426	"" []	4391553	\N	\N	EFO	6	EFO	disease	Greenberg dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1426	"" []	5996994	\N	\N	EFO	8	EFO	material property	Greenberg dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1426	"" []	6550557	\N	\N	EFO	9	EFO	experimental factor	Greenberg dysplasia
Orphanet:1427	\N	\N	"" []	Orphanet:1427	"" []	73616	\N	\N	EFO	0	EFO	Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal dysplasia
Orphanet:253	Orphanet:1427	\N	"" []	Orphanet:1427	"" []	215062	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Otospondylomegaepiphyseal dysplasia
Orphanet:93421	Orphanet:1427	\N	"" []	Orphanet:1427	"" []	215063	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Otospondylomegaepiphyseal dysplasia
Orphanet:93422	Orphanet:1427	\N	"" []	Orphanet:1427	"" []	215064	\N	\N	EFO	1	EFO	Type 11 collagen-related bone disorder	Otospondylomegaepiphyseal dysplasia
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:1427	"" []	569177	\N	\N	EFO	2	EFO	Primary bone dysplasia	Otospondylomegaepiphyseal dysplasia
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:1427	"" []	569178	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Otospondylomegaepiphyseal dysplasia
Orphanet:364803	Orphanet:93422	\N	"" []	Orphanet:1427	"" []	569179	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Otospondylomegaepiphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1427	"" []	1150923	\N	\N	EFO	3	EFO	Rare genetic bone disease	Otospondylomegaepiphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1427	"" []	1150924	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Otospondylomegaepiphyseal dysplasia
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:1427	"" []	1150925	\N	\N	EFO	3	EFO	Rare genetic bone disease	Otospondylomegaepiphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1427	"" []	2033237	\N	\N	EFO	4	EFO	genetic disorder	Otospondylomegaepiphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1427	"" []	2033238	\N	\N	EFO	4	EFO	bone disease	Otospondylomegaepiphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1427	"" []	2033239	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Otospondylomegaepiphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1427	"" []	4391556	\N	\N	EFO	6	EFO	disease	Otospondylomegaepiphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1427	"" []	3183744	\N	\N	EFO	5	EFO	skeletal system disease	Otospondylomegaepiphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1427	"" []	3183745	\N	\N	EFO	5	EFO	genetic disorder	Otospondylomegaepiphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1427	"" []	5181617	\N	\N	EFO	7	EFO	disposition	Otospondylomegaepiphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1427	"" []	4391555	\N	\N	EFO	6	EFO	disease	Otospondylomegaepiphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1427	"" []	5996995	\N	\N	EFO	8	EFO	material property	Otospondylomegaepiphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1427	"" []	6550558	\N	\N	EFO	9	EFO	experimental factor	Otospondylomegaepiphyseal dysplasia
Orphanet:1428	\N	\N	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	73617	\N	\N	EFO	0	EFO	Familial chondromalacia patellae	Familial chondromalacia patellae
Orphanet:93455	Orphanet:1428	\N	"" []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	215065	\N	\N	EFO	1	EFO	Patellar dysostosis	Familial chondromalacia patellae
Orphanet:404568	Orphanet:93455	\N	"" []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	569180	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Familial chondromalacia patellae
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	1150926	\N	\N	EFO	3	EFO	Rare genetic bone disease	Familial chondromalacia patellae
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	1150927	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Familial chondromalacia patellae
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	2033240	\N	\N	EFO	4	EFO	genetic disorder	Familial chondromalacia patellae
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	2033241	\N	\N	EFO	4	EFO	bone disease	Familial chondromalacia patellae
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	2033242	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial chondromalacia patellae
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	4391559	\N	\N	EFO	6	EFO	disease	Familial chondromalacia patellae
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	3183747	\N	\N	EFO	5	EFO	skeletal system disease	Familial chondromalacia patellae
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	3183748	\N	\N	EFO	5	EFO	genetic disorder	Familial chondromalacia patellae
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	5181618	\N	\N	EFO	7	EFO	disposition	Familial chondromalacia patellae
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	4391558	\N	\N	EFO	6	EFO	disease	Familial chondromalacia patellae
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	5996996	\N	\N	EFO	8	EFO	material property	Familial chondromalacia patellae
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1428	"Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." []	6550559	\N	\N	EFO	9	EFO	experimental factor	Familial chondromalacia patellae
Orphanet:1429	\N	\N	"" []	Orphanet:1429	"" []	73618	\N	\N	EFO	0	EFO	Benign familial chorea	Benign familial chorea
Orphanet:158266	Orphanet:1429	\N	"" []	Orphanet:1429	"" []	215066	\N	\N	EFO	1	EFO	Huntington disease-like syndrome	Benign familial chorea
Orphanet:306719	Orphanet:1429	\N	"" []	Orphanet:1429	"" []	215067	\N	\N	EFO	1	EFO	Neurodegenerative disease with chorea	Benign familial chorea
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:1429	"" []	569181	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Benign familial chorea
EFO:0005772	Orphanet:306719	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1429	"" []	569182	\N	\N	EFO	2	EFO	neurodegenerative disease	Benign familial chorea
Orphanet:183521	Orphanet:306719	\N	"" []	Orphanet:1429	"" []	569183	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Benign familial chorea
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1429	"" []	1150928	\N	\N	EFO	3	EFO	neurodegenerative disease	Benign familial chorea
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1429	"" []	1150929	\N	\N	EFO	3	EFO	brain disease	Benign familial chorea
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1429	"" []	1150930	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Benign familial chorea
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1429	"" []	2033243	\N	\N	EFO	4	EFO	nervous system disease	Benign familial chorea
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:1429	"" []	1150932	\N	\N	EFO	3	EFO	movement disorder	Benign familial chorea
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:1429	"" []	1150933	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Benign familial chorea
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1429	"" []	2033244	\N	\N	EFO	4	EFO	nervous system disease	Benign familial chorea
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1429	"" []	2033245	\N	\N	EFO	4	EFO	genetic disorder	Benign familial chorea
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1429	"" []	3000134	\N	\N	EFO	5	EFO	disease	Benign familial chorea
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1429	"" []	2033247	\N	\N	EFO	4	EFO	nervous system disease	Benign familial chorea
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1429	"" []	3183749	\N	\N	EFO	5	EFO	disease	Benign familial chorea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1429	"" []	4133310	\N	\N	EFO	6	EFO	disposition	Benign familial chorea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1429	"" []	5181619	\N	\N	EFO	7	EFO	material property	Benign familial chorea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1429	"" []	5996997	\N	\N	EFO	8	EFO	experimental factor	Benign familial chorea
Orphanet:1431	\N	\N	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	73619	\N	\N	EFO	0	EFO	Paroxysmal dyskinesia	Paroxysmal dyskinesia
Orphanet:200037	Orphanet:1431	\N	"" []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	215068	\N	\N	EFO	1	EFO	Paroxysmal dystonia	Paroxysmal dyskinesia
Orphanet:306768	Orphanet:200037	\N	"" []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	569184	\N	\N	EFO	2	EFO	Rare paroxysmal movement disorder	Paroxysmal dyskinesia
Orphanet:98203	Orphanet:200037	\N	"" []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	569185	\N	\N	EFO	2	EFO	Combined dystonia	Paroxysmal dyskinesia
Orphanet:183521	Orphanet:306768	\N	"" []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	1150934	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Paroxysmal dyskinesia
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	1150935	\N	\N	EFO	3	EFO	Rare genetic dystonia	Paroxysmal dyskinesia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	3183753	\N	\N	EFO	5	EFO	movement disorder	Paroxysmal dyskinesia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	3183754	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Paroxysmal dyskinesia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	2033250	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Paroxysmal dyskinesia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	4133311	\N	\N	EFO	6	EFO	nervous system disease	Paroxysmal dyskinesia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	4133312	\N	\N	EFO	6	EFO	genetic disorder	Paroxysmal dyskinesia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	5181620	\N	\N	EFO	7	EFO	disease	Paroxysmal dyskinesia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	5181621	\N	\N	EFO	7	EFO	disease	Paroxysmal dyskinesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	5996998	\N	\N	EFO	8	EFO	disposition	Paroxysmal dyskinesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	6550560	\N	\N	EFO	9	EFO	material property	Paroxysmal dyskinesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1431	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	6889038	\N	\N	EFO	10	EFO	experimental factor	Paroxysmal dyskinesia
Orphanet:1433	\N	\N	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	73620	\N	\N	EFO	0	EFO	Choroidal atrophy - alopecia	Choroidal atrophy - alopecia
Orphanet:79373	Orphanet:1433	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	215069	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Choroidal atrophy - alopecia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	569186	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Choroidal atrophy - alopecia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	569187	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Choroidal atrophy - alopecia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	1150936	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Choroidal atrophy - alopecia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	1150937	\N	\N	EFO	3	EFO	Rare genetic skin disease	Choroidal atrophy - alopecia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	2033251	\N	\N	EFO	4	EFO	genetic disorder	Choroidal atrophy - alopecia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	2033252	\N	\N	EFO	4	EFO	genetic disorder	Choroidal atrophy - alopecia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	2033253	\N	\N	EFO	4	EFO	skin disease	Choroidal atrophy - alopecia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	3183755	\N	\N	EFO	5	EFO	disease	Choroidal atrophy - alopecia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	3183756	\N	\N	EFO	5	EFO	disease	Choroidal atrophy - alopecia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	4391563	\N	\N	EFO	6	EFO	disposition	Choroidal atrophy - alopecia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	5410644	\N	\N	EFO	7	EFO	material property	Choroidal atrophy - alopecia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1433	"Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." []	6148251	\N	\N	EFO	8	EFO	experimental factor	Choroidal atrophy - alopecia
Orphanet:1434	\N	\N	"" []	Orphanet:1434	"" []	73621	\N	\N	EFO	0	EFO	Choroideremia - hypopituitarism	Choroideremia - hypopituitarism
Orphanet:98662	Orphanet:1434	\N	"" []	Orphanet:1434	"" []	215070	\N	\N	EFO	1	EFO	Unclassified familial retinal dystrophy	Choroideremia - hypopituitarism
Orphanet:71862	Orphanet:98662	\N	"" []	Orphanet:1434	"" []	569188	\N	\N	EFO	2	EFO	Retinal dystrophy	Choroideremia - hypopituitarism
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1434	"" []	1150938	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Choroideremia - hypopituitarism
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1434	"" []	2033254	\N	\N	EFO	4	EFO	Rare genetic eye disease	Choroideremia - hypopituitarism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1434	"" []	3183757	\N	\N	EFO	5	EFO	genetic disorder	Choroideremia - hypopituitarism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1434	"" []	3183758	\N	\N	EFO	5	EFO	eye disease	Choroideremia - hypopituitarism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1434	"" []	4391564	\N	\N	EFO	6	EFO	disease	Choroideremia - hypopituitarism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1434	"" []	4391565	\N	\N	EFO	6	EFO	disease	Choroideremia - hypopituitarism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1434	"" []	5410645	\N	\N	EFO	7	EFO	disposition	Choroideremia - hypopituitarism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1434	"" []	6148252	\N	\N	EFO	8	EFO	material property	Choroideremia - hypopituitarism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1434	"" []	6632115	\N	\N	EFO	9	EFO	experimental factor	Choroideremia - hypopituitarism
Orphanet:1435	\N	\N	"" []	Orphanet:1435	"" []	73622	\N	\N	EFO	0	EFO	Choroideremia - deafness - obesity	Choroideremia - deafness - obesity
Orphanet:240371	Orphanet:1435	\N	"" []	Orphanet:1435	"" []	215071	\N	\N	EFO	1	EFO	Syndromic obesity	Choroideremia - deafness - obesity
Orphanet:90642	Orphanet:1435	\N	"" []	Orphanet:1435	"" []	215072	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Choroideremia - deafness - obesity
Orphanet:98662	Orphanet:1435	\N	"" []	Orphanet:1435	"" []	215073	\N	\N	EFO	1	EFO	Unclassified familial retinal dystrophy	Choroideremia - deafness - obesity
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:1435	"" []	569189	\N	\N	EFO	2	EFO	Genetic obesity	Choroideremia - deafness - obesity
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1435	"" []	569190	\N	\N	EFO	2	EFO	Rare genetic deafness	Choroideremia - deafness - obesity
Orphanet:71862	Orphanet:98662	\N	"" []	Orphanet:1435	"" []	569191	\N	\N	EFO	2	EFO	Retinal dystrophy	Choroideremia - deafness - obesity
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:1435	"" []	1150939	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Choroideremia - deafness - obesity
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:1435	"" []	1150940	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Choroideremia - deafness - obesity
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1435	"" []	1150941	\N	\N	EFO	3	EFO	genetic disorder	Choroideremia - deafness - obesity
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1435	"" []	1150942	\N	\N	EFO	3	EFO	auditory system disease	Choroideremia - deafness - obesity
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1435	"" []	1150943	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Choroideremia - deafness - obesity
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1435	"" []	2033255	\N	\N	EFO	4	EFO	genetic disorder	Choroideremia - deafness - obesity
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1435	"" []	2033256	\N	\N	EFO	4	EFO	endocrine system disease	Choroideremia - deafness - obesity
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:1435	"" []	2033257	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Choroideremia - deafness - obesity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1435	"" []	4391566	\N	\N	EFO	6	EFO	disease	Choroideremia - deafness - obesity
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1435	"" []	2033259	\N	\N	EFO	4	EFO	sensory system disease	Choroideremia - deafness - obesity
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1435	"" []	2033260	\N	\N	EFO	4	EFO	Rare genetic eye disease	Choroideremia - deafness - obesity
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1435	"" []	3183760	\N	\N	EFO	5	EFO	disease	Choroideremia - deafness - obesity
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1435	"" []	3183761	\N	\N	EFO	5	EFO	genetic disorder	Choroideremia - deafness - obesity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1435	"" []	5059616	\N	\N	EFO	7	EFO	disposition	Choroideremia - deafness - obesity
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1435	"" []	3183763	\N	\N	EFO	5	EFO	nervous system disease	Choroideremia - deafness - obesity
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1435	"" []	3183764	\N	\N	EFO	5	EFO	genetic disorder	Choroideremia - deafness - obesity
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1435	"" []	3183765	\N	\N	EFO	5	EFO	eye disease	Choroideremia - deafness - obesity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1435	"" []	5876786	\N	\N	EFO	8	EFO	material property	Choroideremia - deafness - obesity
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1435	"" []	4391568	\N	\N	EFO	6	EFO	disease	Choroideremia - deafness - obesity
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1435	"" []	4391569	\N	\N	EFO	6	EFO	disease	Choroideremia - deafness - obesity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1435	"" []	6469998	\N	\N	EFO	9	EFO	experimental factor	Choroideremia - deafness - obesity
Orphanet:1436	\N	\N	"" []	Orphanet:1436	"" []	73623	\N	\N	EFO	0	EFO	Skeletal dysplasia - intellectual disability	Skeletal dysplasia - intellectual disability
Orphanet:117573	Orphanet:1436	\N	"" []	Orphanet:1436	"" []	215074	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Skeletal dysplasia - intellectual disability
Orphanet:93434	Orphanet:1436	\N	"" []	Orphanet:1436	"" []	215075	\N	\N	EFO	1	EFO	Spondylodysplastic dysplasia	Skeletal dysplasia - intellectual disability
Orphanet:98464	Orphanet:1436	\N	"" []	Orphanet:1436	"" []	215076	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Skeletal dysplasia - intellectual disability
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:1436	"" []	569192	\N	\N	EFO	2	EFO	Anorectal malformation	Skeletal dysplasia - intellectual disability
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:1436	"" []	569193	\N	\N	EFO	2	EFO	Primary bone dysplasia	Skeletal dysplasia - intellectual disability
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1436	"" []	569194	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Skeletal dysplasia - intellectual disability
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:1436	"" []	1150944	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Skeletal dysplasia - intellectual disability
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1436	"" []	1150945	\N	\N	EFO	3	EFO	Rare genetic bone disease	Skeletal dysplasia - intellectual disability
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1436	"" []	1150946	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Skeletal dysplasia - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1436	"" []	1150947	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Skeletal dysplasia - intellectual disability
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1436	"" []	2033261	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Skeletal dysplasia - intellectual disability
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1436	"" []	2033262	\N	\N	EFO	4	EFO	genetic disorder	Skeletal dysplasia - intellectual disability
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1436	"" []	2033263	\N	\N	EFO	4	EFO	bone disease	Skeletal dysplasia - intellectual disability
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1436	"" []	2033264	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Skeletal dysplasia - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1436	"" []	2033265	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Skeletal dysplasia - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1436	"" []	3183766	\N	\N	EFO	5	EFO	genetic disorder	Skeletal dysplasia - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1436	"" []	4391570	\N	\N	EFO	6	EFO	disease	Skeletal dysplasia - intellectual disability
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1436	"" []	3183768	\N	\N	EFO	5	EFO	skeletal system disease	Skeletal dysplasia - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1436	"" []	3183769	\N	\N	EFO	5	EFO	genetic disorder	Skeletal dysplasia - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1436	"" []	5181623	\N	\N	EFO	7	EFO	disposition	Skeletal dysplasia - intellectual disability
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1436	"" []	4391572	\N	\N	EFO	6	EFO	disease	Skeletal dysplasia - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1436	"" []	5997000	\N	\N	EFO	8	EFO	material property	Skeletal dysplasia - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1436	"" []	6550561	\N	\N	EFO	9	EFO	experimental factor	Skeletal dysplasia - intellectual disability
Orphanet:1437	\N	\N	"" []	Orphanet:1437	"" []	73624	\N	\N	EFO	0	EFO	Ring chromosome 1	Ring chromosome 1
Orphanet:363203	Orphanet:1437	\N	"" []	Orphanet:1437	"" []	215077	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 1
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1437	"" []	569195	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 1
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1437	"" []	1150948	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1437	"" []	2033266	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1437	"" []	3183770	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1437	"" []	4391573	\N	\N	EFO	6	EFO	disease	Ring chromosome 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1437	"" []	5410648	\N	\N	EFO	7	EFO	disposition	Ring chromosome 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1437	"" []	6148254	\N	\N	EFO	8	EFO	material property	Ring chromosome 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1437	"" []	6632116	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 1
Orphanet:1438	\N	\N	"" []	Orphanet:1438	"" []	73625	\N	\N	EFO	0	EFO	Ring chromosome 10	Ring chromosome 10
Orphanet:363203	Orphanet:1438	\N	"" []	Orphanet:1438	"" []	215078	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 10
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1438	"" []	569196	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 10
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1438	"" []	1150949	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 10
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1438	"" []	2033267	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 10
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1438	"" []	3183771	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 10
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1438	"" []	4391574	\N	\N	EFO	6	EFO	disease	Ring chromosome 10
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1438	"" []	5410649	\N	\N	EFO	7	EFO	disposition	Ring chromosome 10
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1438	"" []	6148255	\N	\N	EFO	8	EFO	material property	Ring chromosome 10
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1438	"" []	6632117	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 10
Orphanet:1439	\N	\N	"" []	Orphanet:1439	"" []	73626	\N	\N	EFO	0	EFO	Ring chromosome 12	Ring chromosome 12
Orphanet:363203	Orphanet:1439	\N	"" []	Orphanet:1439	"" []	215079	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 12
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1439	"" []	569197	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 12
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1439	"" []	1150950	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 12
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1439	"" []	2033268	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 12
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1439	"" []	3183772	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 12
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1439	"" []	4391575	\N	\N	EFO	6	EFO	disease	Ring chromosome 12
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1439	"" []	5410650	\N	\N	EFO	7	EFO	disposition	Ring chromosome 12
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1439	"" []	6148256	\N	\N	EFO	8	EFO	material property	Ring chromosome 12
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1439	"" []	6632118	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 12
Orphanet:144	\N	\N	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	73627	\N	\N	EFO	0	EFO	Lynch syndrome	Lynch syndrome
EFO:0004288	Orphanet:144	\N	"Tumors or cancer of the COLON." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	215080	\N	\N	EFO	1	EFO	colonic neoplasm	Lynch syndrome
Orphanet:140162	Orphanet:144	\N	"" []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	215081	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Lynch syndrome
Orphanet:271835	Orphanet:144	\N	"" []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	215082	\N	\N	EFO	1	EFO	Genetic digestive tract tumor	Lynch syndrome
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	569198	\N	\N	EFO	2	EFO	digestive system disease	Lynch syndrome
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	569199	\N	\N	EFO	2	EFO	neoplasm	Lynch syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	569200	\N	\N	EFO	2	EFO	genetic disorder	Lynch syndrome
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	569201	\N	\N	EFO	2	EFO	digestive system disease	Lynch syndrome
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	569202	\N	\N	EFO	2	EFO	Rare genetic tumor	Lynch syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	1150951	\N	\N	EFO	3	EFO	disease	Lynch syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	2033271	\N	\N	EFO	4	EFO	disease	Lynch syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	2033270	\N	\N	EFO	4	EFO	disease	Lynch syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	1150954	\N	\N	EFO	3	EFO	genetic disorder	Lynch syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	1150955	\N	\N	EFO	3	EFO	neoplasm	Lynch syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	3000135	\N	\N	EFO	5	EFO	disposition	Lynch syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	4133314	\N	\N	EFO	6	EFO	material property	Lynch syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:144	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	5181624	\N	\N	EFO	7	EFO	experimental factor	Lynch syndrome
Orphanet:1440	\N	\N	"" []	Orphanet:1440	"" []	73628	\N	\N	EFO	0	EFO	Ring chromosome 14	Ring chromosome 14
Orphanet:363203	Orphanet:1440	\N	"" []	Orphanet:1440	"" []	215083	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 14
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1440	"" []	569203	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 14
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1440	"" []	1150956	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 14
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1440	"" []	2033272	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 14
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1440	"" []	3183774	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 14
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1440	"" []	4391577	\N	\N	EFO	6	EFO	disease	Ring chromosome 14
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1440	"" []	5410651	\N	\N	EFO	7	EFO	disposition	Ring chromosome 14
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1440	"" []	6148257	\N	\N	EFO	8	EFO	material property	Ring chromosome 14
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1440	"" []	6632119	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 14
Orphanet:1441	\N	\N	"" []	Orphanet:1441	"" []	73629	\N	\N	EFO	0	EFO	Ring chromosome 17	Ring chromosome 17
Orphanet:363203	Orphanet:1441	\N	"" []	Orphanet:1441	"" []	215084	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 17
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1441	"" []	569204	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 17
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1441	"" []	1150957	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 17
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1441	"" []	2033273	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 17
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1441	"" []	3183775	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 17
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1441	"" []	4391578	\N	\N	EFO	6	EFO	disease	Ring chromosome 17
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1441	"" []	5410652	\N	\N	EFO	7	EFO	disposition	Ring chromosome 17
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1441	"" []	6148258	\N	\N	EFO	8	EFO	material property	Ring chromosome 17
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1441	"" []	6632120	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 17
Orphanet:1442	\N	\N	"" []	Orphanet:1442	"" []	73630	\N	\N	EFO	0	EFO	Ring chromosome 18	Ring chromosome 18
Orphanet:363203	Orphanet:1442	\N	"" []	Orphanet:1442	"" []	215085	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 18
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1442	"" []	569205	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 18
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1442	"" []	1150958	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 18
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1442	"" []	2033274	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 18
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1442	"" []	3183776	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 18
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1442	"" []	4391579	\N	\N	EFO	6	EFO	disease	Ring chromosome 18
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1442	"" []	5410653	\N	\N	EFO	7	EFO	disposition	Ring chromosome 18
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1442	"" []	6148259	\N	\N	EFO	8	EFO	material property	Ring chromosome 18
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1442	"" []	6632121	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 18
Orphanet:1443	\N	\N	"" []	Orphanet:1443	"" []	73631	\N	\N	EFO	0	EFO	Ring chromosome 19	Ring chromosome 19
Orphanet:363203	Orphanet:1443	\N	"" []	Orphanet:1443	"" []	215086	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 19
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1443	"" []	569206	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 19
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1443	"" []	1150959	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 19
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1443	"" []	2033275	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 19
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1443	"" []	3183777	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 19
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1443	"" []	4391580	\N	\N	EFO	6	EFO	disease	Ring chromosome 19
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1443	"" []	5410654	\N	\N	EFO	7	EFO	disposition	Ring chromosome 19
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1443	"" []	6148260	\N	\N	EFO	8	EFO	material property	Ring chromosome 19
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1443	"" []	6632122	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 19
Orphanet:1444	\N	\N	"" []	Orphanet:1444	"" []	73632	\N	\N	EFO	0	EFO	Ring chromosome 20	Ring chromosome 20
Orphanet:363203	Orphanet:1444	\N	"" []	Orphanet:1444	"" []	215087	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 20
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1444	"" []	569207	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 20
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1444	"" []	1150960	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 20
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1444	"" []	2033276	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 20
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1444	"" []	3183778	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 20
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1444	"" []	4391581	\N	\N	EFO	6	EFO	disease	Ring chromosome 20
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1444	"" []	5410655	\N	\N	EFO	7	EFO	disposition	Ring chromosome 20
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1444	"" []	6148261	\N	\N	EFO	8	EFO	material property	Ring chromosome 20
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1444	"" []	6632123	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 20
Orphanet:1445	\N	\N	"" []	Orphanet:1445	"" []	73633	\N	\N	EFO	0	EFO	Ring chromosome 21	Ring chromosome 21
Orphanet:363203	Orphanet:1445	\N	"" []	Orphanet:1445	"" []	215088	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 21
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1445	"" []	569208	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 21
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1445	"" []	1150961	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 21
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1445	"" []	2033277	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 21
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1445	"" []	3183779	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 21
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1445	"" []	4391582	\N	\N	EFO	6	EFO	disease	Ring chromosome 21
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1445	"" []	5410656	\N	\N	EFO	7	EFO	disposition	Ring chromosome 21
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1445	"" []	6148262	\N	\N	EFO	8	EFO	material property	Ring chromosome 21
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1445	"" []	6632124	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 21
Orphanet:1446	\N	\N	"" []	Orphanet:1446	"" []	73634	\N	\N	EFO	0	EFO	Ring chromosome 22	Ring chromosome 22
Orphanet:363203	Orphanet:1446	\N	"" []	Orphanet:1446	"" []	215089	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 22
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1446	"" []	569209	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 22
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1446	"" []	1150962	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 22
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1446	"" []	2033278	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 22
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1446	"" []	3183780	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 22
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1446	"" []	4391583	\N	\N	EFO	6	EFO	disease	Ring chromosome 22
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1446	"" []	5410657	\N	\N	EFO	7	EFO	disposition	Ring chromosome 22
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1446	"" []	6148263	\N	\N	EFO	8	EFO	material property	Ring chromosome 22
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1446	"" []	6632125	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 22
Orphanet:1447	\N	\N	"" []	Orphanet:1447	"" []	73635	\N	\N	EFO	0	EFO	Ring chromosome 4	Ring chromosome 4
Orphanet:363203	Orphanet:1447	\N	"" []	Orphanet:1447	"" []	215090	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 4
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1447	"" []	569210	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 4
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1447	"" []	1150963	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 4
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1447	"" []	2033279	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 4
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1447	"" []	3183781	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1447	"" []	4391584	\N	\N	EFO	6	EFO	disease	Ring chromosome 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1447	"" []	5410658	\N	\N	EFO	7	EFO	disposition	Ring chromosome 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1447	"" []	6148264	\N	\N	EFO	8	EFO	material property	Ring chromosome 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1447	"" []	6632126	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 4
Orphanet:1448	\N	\N	"" []	Orphanet:1448	"" []	73636	\N	\N	EFO	0	EFO	Ring chromosome 6	Ring chromosome 6
Orphanet:363203	Orphanet:1448	\N	"" []	Orphanet:1448	"" []	215091	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 6
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1448	"" []	569211	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 6
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1448	"" []	1150964	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 6
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1448	"" []	2033280	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 6
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1448	"" []	3183782	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1448	"" []	4391585	\N	\N	EFO	6	EFO	disease	Ring chromosome 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1448	"" []	5410659	\N	\N	EFO	7	EFO	disposition	Ring chromosome 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1448	"" []	6148265	\N	\N	EFO	8	EFO	material property	Ring chromosome 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1448	"" []	6632127	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 6
Orphanet:1449	\N	\N	"" []	Orphanet:1449	"" []	73637	\N	\N	EFO	0	EFO	Ring chromosome 7	Ring chromosome 7
Orphanet:363203	Orphanet:1449	\N	"" []	Orphanet:1449	"" []	215092	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 7
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1449	"" []	569212	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 7
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1449	"" []	1150965	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 7
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1449	"" []	2033281	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 7
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1449	"" []	3183783	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1449	"" []	4391586	\N	\N	EFO	6	EFO	disease	Ring chromosome 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1449	"" []	5410660	\N	\N	EFO	7	EFO	disposition	Ring chromosome 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1449	"" []	6148266	\N	\N	EFO	8	EFO	material property	Ring chromosome 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1449	"" []	6632128	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 7
Orphanet:145	\N	\N	"" []	Orphanet:145	"" []	73638	\N	\N	EFO	0	EFO	Hereditary breast and ovarian cancer syndrome	Hereditary breast and ovarian cancer syndrome
EFO:0000305	Orphanet:145	\N	"Tumors or cancer of the human BREAST." []	Orphanet:145	"" []	215093	\N	\N	EFO	1	EFO	breast carcinoma	Hereditary breast and ovarian cancer syndrome
Orphanet:183731	Orphanet:145	\N	"" []	Orphanet:145	"" []	215094	\N	\N	EFO	1	EFO	Rare genetic gynecological and obstetrical diseases	Hereditary breast and ovarian cancer syndrome
Orphanet:213517	Orphanet:145	\N	"" []	Orphanet:145	"" []	215095	\N	\N	EFO	1	EFO	Familial ovarian cancer	Hereditary breast and ovarian cancer syndrome
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	Orphanet:145	"" []	569213	\N	\N	EFO	2	EFO	carcinoma	Hereditary breast and ovarian cancer syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:145	"" []	569214	\N	\N	EFO	2	EFO	genetic disorder	Hereditary breast and ovarian cancer syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:145	"" []	569215	\N	\N	EFO	2	EFO	reproductive system disease	Hereditary breast and ovarian cancer syndrome
EFO:0001075	Orphanet:213517	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	Orphanet:145	"" []	569216	\N	\N	EFO	2	EFO	ovarian carcinoma	Hereditary breast and ovarian cancer syndrome
Orphanet:183734	Orphanet:213517	\N	"" []	Orphanet:145	"" []	569217	\N	\N	EFO	2	EFO	Genetic gynecological tumor	Hereditary breast and ovarian cancer syndrome
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	Orphanet:145	"" []	2033285	\N	\N	EFO	4	EFO	cancer	Hereditary breast and ovarian cancer syndrome
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	Orphanet:145	"" []	2033286	\N	\N	EFO	4	EFO	epithelial neoplasm	Hereditary breast and ovarian cancer syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:145	"" []	3183788	\N	\N	EFO	5	EFO	disease	Hereditary breast and ovarian cancer syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:145	"" []	4391588	\N	\N	EFO	6	EFO	disease	Hereditary breast and ovarian cancer syndrome
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	Orphanet:145	"" []	1150970	\N	\N	EFO	3	EFO	carcinoma	Hereditary breast and ovarian cancer syndrome
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	Orphanet:145	"" []	1150971	\N	\N	EFO	3	EFO	ovarian neoplasm	Hereditary breast and ovarian cancer syndrome
EFO:0000512	Orphanet:183734	\N	"any diease of the reproductive system" []	Orphanet:145	"" []	1150972	\N	\N	EFO	3	EFO	reproductive system disease	Hereditary breast and ovarian cancer syndrome
EFO:0003863	Orphanet:183734	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:145	"" []	1150973	\N	\N	EFO	3	EFO	urogenital neoplasm	Hereditary breast and ovarian cancer syndrome
Orphanet:68336	Orphanet:183734	\N	"" []	Orphanet:145	"" []	1150974	\N	\N	EFO	3	EFO	Rare genetic tumor	Hereditary breast and ovarian cancer syndrome
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:145	"" []	3000136	\N	\N	EFO	5	EFO	neoplasm	Hereditary breast and ovarian cancer syndrome
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:145	"" []	3000137	\N	\N	EFO	5	EFO	neoplasm	Hereditary breast and ovarian cancer syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:145	"" []	5028387	\N	\N	EFO	7	EFO	disposition	Hereditary breast and ovarian cancer syndrome
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:145	"" []	2033287	\N	\N	EFO	4	EFO	urogenital neoplasm	Hereditary breast and ovarian cancer syndrome
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:145	"" []	2033288	\N	\N	EFO	4	EFO	ovarian disease	Hereditary breast and ovarian cancer syndrome
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:145	"" []	3183786	\N	\N	EFO	5	EFO	neoplasm	Hereditary breast and ovarian cancer syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:145	"" []	2033291	\N	\N	EFO	4	EFO	genetic disorder	Hereditary breast and ovarian cancer syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:145	"" []	2033292	\N	\N	EFO	4	EFO	neoplasm	Hereditary breast and ovarian cancer syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:145	"" []	4133315	\N	\N	EFO	6	EFO	disease	Hereditary breast and ovarian cancer syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:145	"" []	5817492	\N	\N	EFO	8	EFO	material property	Hereditary breast and ovarian cancer syndrome
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:145	"" []	3183787	\N	\N	EFO	5	EFO	reproductive system disease	Hereditary breast and ovarian cancer syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:145	"" []	6409852	\N	\N	EFO	9	EFO	experimental factor	Hereditary breast and ovarian cancer syndrome
Orphanet:1450	\N	\N	"" []	Orphanet:1450	"" []	73639	\N	\N	EFO	0	EFO	Ring chromosome 8	Ring chromosome 8
Orphanet:363203	Orphanet:1450	\N	"" []	Orphanet:1450	"" []	215096	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 8
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:1450	"" []	569218	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 8
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1450	"" []	1150975	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 8
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1450	"" []	2033293	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 8
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1450	"" []	3183789	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1450	"" []	4391589	\N	\N	EFO	6	EFO	disease	Ring chromosome 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1450	"" []	5410661	\N	\N	EFO	7	EFO	disposition	Ring chromosome 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1450	"" []	6148267	\N	\N	EFO	8	EFO	material property	Ring chromosome 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1450	"" []	6632129	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 8
Orphanet:1451	\N	\N	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	73640	\N	\N	EFO	0	EFO	CINCA syndrome	CINCA syndrome
Orphanet:208650	Orphanet:1451	\N	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	215097	\N	\N	EFO	1	EFO	Cryopyrin-associated periodic syndrome	CINCA syndrome
Orphanet:290839	Orphanet:208650	\N	"" []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	569219	\N	\N	EFO	2	EFO	Autoinflammatory syndrome with immune deficiency	CINCA syndrome
Orphanet:324924	Orphanet:208650	\N	"" []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	569220	\N	\N	EFO	2	EFO	Hereditary periodic fever syndrome	CINCA syndrome
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	1150976	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	CINCA syndrome
Orphanet:271870	Orphanet:324924	\N	"" []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	1150977	\N	\N	EFO	3	EFO	Rare genetic systemic or rheumatologic disease	CINCA syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	2033294	\N	\N	EFO	4	EFO	Primary immunodeficiency	CINCA syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	2033295	\N	\N	EFO	4	EFO	genetic disorder	CINCA syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	3183790	\N	\N	EFO	5	EFO	Rare genetic immune disease	CINCA syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	5410662	\N	\N	EFO	7	EFO	disease	CINCA syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	4391590	\N	\N	EFO	6	EFO	genetic disorder	CINCA syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	4391591	\N	\N	EFO	6	EFO	immune system disease	CINCA syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	5876788	\N	\N	EFO	8	EFO	disposition	CINCA syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	5410663	\N	\N	EFO	7	EFO	disease	CINCA syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	6469999	\N	\N	EFO	9	EFO	material property	CINCA syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1451	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	6848296	\N	\N	EFO	10	EFO	experimental factor	CINCA syndrome
Orphanet:1452	\N	\N	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	73641	\N	\N	EFO	0	EFO	Cleidocranial dysplasia	Cleidocranial dysplasia
Orphanet:183542	Orphanet:1452	\N	"" []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	215098	\N	\N	EFO	1	EFO	Genetic cranial malformation	Cleidocranial dysplasia
Orphanet:93451	Orphanet:1452	\N	"" []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	215099	\N	\N	EFO	1	EFO	Cleidocranial dysplasia and isolated cranial ossification defect	Cleidocranial dysplasia
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	569221	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Cleidocranial dysplasia
Orphanet:364526	Orphanet:93451	\N	"" []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	569222	\N	\N	EFO	2	EFO	Primary bone dysplasia	Cleidocranial dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	3183795	\N	\N	EFO	5	EFO	genetic disorder	Cleidocranial dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	1150979	\N	\N	EFO	3	EFO	Rare genetic bone disease	Cleidocranial dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	1150980	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Cleidocranial dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	4066855	\N	\N	EFO	6	EFO	disease	Cleidocranial dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	2033297	\N	\N	EFO	4	EFO	genetic disorder	Cleidocranial dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	2033298	\N	\N	EFO	4	EFO	bone disease	Cleidocranial dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	2033299	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cleidocranial dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	5059618	\N	\N	EFO	7	EFO	disposition	Cleidocranial dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	3183794	\N	\N	EFO	5	EFO	skeletal system disease	Cleidocranial dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	5876789	\N	\N	EFO	8	EFO	material property	Cleidocranial dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	4391594	\N	\N	EFO	6	EFO	disease	Cleidocranial dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1452	"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." []	6470000	\N	\N	EFO	9	EFO	experimental factor	Cleidocranial dysplasia
Orphanet:1453	\N	\N	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	73642	\N	\N	EFO	0	EFO	Cleidorhizomelic syndrome	Cleidorhizomelic syndrome
Orphanet:93438	Orphanet:1453	\N	"" []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	215100	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Cleidorhizomelic syndrome
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	569223	\N	\N	EFO	2	EFO	Primary bone dysplasia	Cleidorhizomelic syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	1150981	\N	\N	EFO	3	EFO	Rare genetic bone disease	Cleidorhizomelic syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	1150982	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Cleidorhizomelic syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	2033300	\N	\N	EFO	4	EFO	genetic disorder	Cleidorhizomelic syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	2033301	\N	\N	EFO	4	EFO	bone disease	Cleidorhizomelic syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	2033302	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cleidorhizomelic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	4391597	\N	\N	EFO	6	EFO	disease	Cleidorhizomelic syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	3183797	\N	\N	EFO	5	EFO	skeletal system disease	Cleidorhizomelic syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	3183798	\N	\N	EFO	5	EFO	genetic disorder	Cleidorhizomelic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	5181627	\N	\N	EFO	7	EFO	disposition	Cleidorhizomelic syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	4391596	\N	\N	EFO	6	EFO	disease	Cleidorhizomelic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	5997002	\N	\N	EFO	8	EFO	material property	Cleidorhizomelic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1453	"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." []	6550562	\N	\N	EFO	9	EFO	experimental factor	Cleidorhizomelic syndrome
Orphanet:1454	\N	\N	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	73643	\N	\N	EFO	0	EFO	Joubert syndrome with hepatic defect	Joubert syndrome with hepatic defect
Orphanet:140874	Orphanet:1454	\N	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	215101	\N	\N	EFO	1	EFO	Joubert syndrome and related disorders	Joubert syndrome with hepatic defect
Orphanet:269567	Orphanet:1454	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	215102	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Joubert syndrome with hepatic defect
Orphanet:330197	Orphanet:1454	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	215103	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Joubert syndrome with hepatic defect
Orphanet:98095	Orphanet:140874	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	569224	\N	\N	EFO	2	EFO	Autosomal recessive congenital cerebellar ataxia	Joubert syndrome with hepatic defect
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	569225	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Joubert syndrome with hepatic defect
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	569226	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Joubert syndrome with hepatic defect
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	1150983	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Joubert syndrome with hepatic defect
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	1150984	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Joubert syndrome with hepatic defect
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	1150985	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Joubert syndrome with hepatic defect
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	2033303	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Joubert syndrome with hepatic defect
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	2033304	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Joubert syndrome with hepatic defect
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	2033305	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Joubert syndrome with hepatic defect
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	2033306	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Joubert syndrome with hepatic defect
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	2033307	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Joubert syndrome with hepatic defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	3183802	\N	\N	EFO	5	EFO	genetic disorder	Joubert syndrome with hepatic defect
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	3183799	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Joubert syndrome with hepatic defect
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	3183800	\N	\N	EFO	5	EFO	Ataxia with dementia	Joubert syndrome with hepatic defect
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	3183801	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Joubert syndrome with hepatic defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6632131	\N	\N	EFO	9	EFO	genetic disorder	Joubert syndrome with hepatic defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6778608	\N	\N	EFO	10	EFO	disease	Joubert syndrome with hepatic defect
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	4391599	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Joubert syndrome with hepatic defect
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	4391600	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Joubert syndrome with hepatic defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	7015667	\N	\N	EFO	11	EFO	disposition	Joubert syndrome with hepatic defect
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	5410667	\N	\N	EFO	7	EFO	Genetic dementia	Joubert syndrome with hepatic defect
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	5410668	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Joubert syndrome with hepatic defect
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	5410669	\N	\N	EFO	7	EFO	Rare genetic eye disease	Joubert syndrome with hepatic defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	7173615	\N	\N	EFO	12	EFO	material property	Joubert syndrome with hepatic defect
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6148270	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome with hepatic defect
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6148271	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome with hepatic defect
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6148272	\N	\N	EFO	8	EFO	neurodegenerative disease	Joubert syndrome with hepatic defect
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6148273	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome with hepatic defect
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6148274	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome with hepatic defect
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6148275	\N	\N	EFO	8	EFO	genetic disorder	Joubert syndrome with hepatic defect
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6148276	\N	\N	EFO	8	EFO	eye disease	Joubert syndrome with hepatic defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	7275667	\N	\N	EFO	13	EFO	experimental factor	Joubert syndrome with hepatic defect
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6632130	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome with hepatic defect
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6632132	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome with hepatic defect
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6632134	\N	\N	EFO	9	EFO	disease	Joubert syndrome with hepatic defect
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1454	"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." []	6925406	\N	\N	EFO	10	EFO	disease	Joubert syndrome with hepatic defect
Orphanet:1458	\N	\N	"" []	Orphanet:1458	"" []	73644	\N	\N	EFO	0	EFO	CODAS syndrome	CODAS syndrome
Orphanet:330206	Orphanet:1458	\N	"" []	Orphanet:1458	"" []	215104	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	CODAS syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1458	"" []	569227	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	CODAS syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1458	"" []	1150986	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	CODAS syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1458	"" []	2033309	\N	\N	EFO	4	EFO	genetic disorder	CODAS syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1458	"" []	3183805	\N	\N	EFO	5	EFO	disease	CODAS syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1458	"" []	4391602	\N	\N	EFO	6	EFO	disposition	CODAS syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1458	"" []	5410671	\N	\N	EFO	7	EFO	material property	CODAS syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1458	"" []	6148278	\N	\N	EFO	8	EFO	experimental factor	CODAS syndrome
Orphanet:1460	\N	\N	"" []	Orphanet:1460	"" []	73645	\N	\N	EFO	0	EFO	Isolated CoQ-cytochrome C reductase deficiency	Isolated CoQ-cytochrome C reductase deficiency
Orphanet:254846	Orphanet:1460	\N	"" []	Orphanet:1460	"" []	215105	\N	\N	EFO	1	EFO	Isolated oxidative phosphorylation complex disorder	Isolated CoQ-cytochrome C reductase deficiency
Orphanet:223713	Orphanet:254846	\N	"" []	Orphanet:1460	"" []	569228	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Isolated CoQ-cytochrome C reductase deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:1460	"" []	1150987	\N	\N	EFO	3	EFO	Mitochondrial disease	Isolated CoQ-cytochrome C reductase deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:1460	"" []	2033310	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Isolated CoQ-cytochrome C reductase deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:1460	"" []	2033311	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Isolated CoQ-cytochrome C reductase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:1460	"" []	3183806	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated CoQ-cytochrome C reductase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:1460	"" []	3183807	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Isolated CoQ-cytochrome C reductase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1460	"" []	4391603	\N	\N	EFO	6	EFO	genetic disorder	Isolated CoQ-cytochrome C reductase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1460	"" []	4391604	\N	\N	EFO	6	EFO	genetic disorder	Isolated CoQ-cytochrome C reductase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1460	"" []	4391605	\N	\N	EFO	6	EFO	metabolic disease	Isolated CoQ-cytochrome C reductase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1460	"" []	5410672	\N	\N	EFO	7	EFO	disease	Isolated CoQ-cytochrome C reductase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1460	"" []	5410673	\N	\N	EFO	7	EFO	disease	Isolated CoQ-cytochrome C reductase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1460	"" []	6148279	\N	\N	EFO	8	EFO	disposition	Isolated CoQ-cytochrome C reductase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1460	"" []	6632135	\N	\N	EFO	9	EFO	material property	Isolated CoQ-cytochrome C reductase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1460	"" []	6925407	\N	\N	EFO	10	EFO	experimental factor	Isolated CoQ-cytochrome C reductase deficiency
Orphanet:1465	\N	\N	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	73646	\N	\N	EFO	0	EFO	Coffin-Siris syndrome	Coffin-Siris syndrome
Orphanet:102283	Orphanet:1465	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	215106	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Coffin-Siris syndrome
Orphanet:183763	Orphanet:1465	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	215107	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Coffin-Siris syndrome
Orphanet:69028	Orphanet:1465	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	215108	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Coffin-Siris syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	569229	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Coffin-Siris syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	569230	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Coffin-Siris syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	569231	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Coffin-Siris syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	569232	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Coffin-Siris syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	1150988	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Coffin-Siris syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	1150989	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Coffin-Siris syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	1150990	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Coffin-Siris syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	1150991	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Coffin-Siris syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	4391608	\N	\N	EFO	6	EFO	genetic disorder	Coffin-Siris syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	2033313	\N	\N	EFO	4	EFO	genetic disorder	Coffin-Siris syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	2033314	\N	\N	EFO	4	EFO	Rare genetic bone disease	Coffin-Siris syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	2033315	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Coffin-Siris syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	2033316	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Coffin-Siris syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	5059619	\N	\N	EFO	7	EFO	disease	Coffin-Siris syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	3183809	\N	\N	EFO	5	EFO	genetic disorder	Coffin-Siris syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	3183810	\N	\N	EFO	5	EFO	bone disease	Coffin-Siris syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	3183811	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Coffin-Siris syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	5876791	\N	\N	EFO	8	EFO	disposition	Coffin-Siris syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	4391607	\N	\N	EFO	6	EFO	skeletal system disease	Coffin-Siris syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	6470002	\N	\N	EFO	9	EFO	material property	Coffin-Siris syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	5410675	\N	\N	EFO	7	EFO	disease	Coffin-Siris syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1465	"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." []	6848298	\N	\N	EFO	10	EFO	experimental factor	Coffin-Siris syndrome
Orphanet:1466	\N	\N	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	73647	\N	\N	EFO	0	EFO	COFS syndrome	COFS syndrome
Orphanet:191	Orphanet:1466	\N	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	215109	\N	\N	EFO	1	EFO	Cockayne syndrome	COFS syndrome
Orphanet:202948	Orphanet:1466	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	215110	\N	\N	EFO	1	EFO	Syndromic microphthalmia	COFS syndrome
Orphanet:139027	Orphanet:191	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	569233	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	COFS syndrome
Orphanet:183422	Orphanet:191	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	569234	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	COFS syndrome
Orphanet:183500	Orphanet:191	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	569235	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	COFS syndrome
Orphanet:183763	Orphanet:191	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	569236	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	COFS syndrome
Orphanet:363245	Orphanet:191	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	569237	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	COFS syndrome
Orphanet:79389	Orphanet:191	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	569238	\N	\N	EFO	2	EFO	Premature aging	COFS syndrome
Orphanet:90642	Orphanet:191	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	569239	\N	\N	EFO	2	EFO	Syndromic genetic deafness	COFS syndrome
Orphanet:98661	Orphanet:191	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	569240	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	COFS syndrome
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	569241	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	COFS syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	1150992	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	COFS syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	1150993	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	COFS syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	1150994	\N	\N	EFO	3	EFO	neurodegenerative disease	COFS syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	1150995	\N	\N	EFO	3	EFO	brain disease	COFS syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	1150996	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	COFS syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	1150997	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	COFS syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	1150998	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	COFS syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	1150999	\N	\N	EFO	3	EFO	Rare genetic skin disease	COFS syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	1151000	\N	\N	EFO	3	EFO	Rare genetic deafness	COFS syndrome
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	1151001	\N	\N	EFO	3	EFO	Retinal dystrophy	COFS syndrome
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	1151002	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	COFS syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	4391613	\N	\N	EFO	6	EFO	genetic disorder	COFS syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	2033318	\N	\N	EFO	4	EFO	genetic disorder	COFS syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	2033319	\N	\N	EFO	4	EFO	nervous system disease	COFS syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	2033320	\N	\N	EFO	4	EFO	nervous system disease	COFS syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	3183815	\N	\N	EFO	5	EFO	genetic disorder	COFS syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	2033322	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	COFS syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	2033323	\N	\N	EFO	4	EFO	genetic disorder	COFS syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	2033324	\N	\N	EFO	4	EFO	skin disease	COFS syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	2033325	\N	\N	EFO	4	EFO	genetic disorder	COFS syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	2033326	\N	\N	EFO	4	EFO	auditory system disease	COFS syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	2033327	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	COFS syndrome
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	2033328	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	COFS syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	5059620	\N	\N	EFO	7	EFO	disease	COFS syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	5410677	\N	\N	EFO	7	EFO	disease	COFS syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	3183816	\N	\N	EFO	5	EFO	disease	COFS syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	3183817	\N	\N	EFO	5	EFO	sensory system disease	COFS syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	3183818	\N	\N	EFO	5	EFO	Rare genetic eye disease	COFS syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	3183819	\N	\N	EFO	5	EFO	Rare genetic eye disease	COFS syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	3183820	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	COFS syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	5876792	\N	\N	EFO	8	EFO	disposition	COFS syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	4391610	\N	\N	EFO	6	EFO	nervous system disease	COFS syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	4391611	\N	\N	EFO	6	EFO	genetic disorder	COFS syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	4391612	\N	\N	EFO	6	EFO	eye disease	COFS syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	6470003	\N	\N	EFO	9	EFO	material property	COFS syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	5410678	\N	\N	EFO	7	EFO	disease	COFS syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1466	"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." []	6848299	\N	\N	EFO	10	EFO	experimental factor	COFS syndrome
Orphanet:147	\N	\N	"Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." []	Orphanet:147	"Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." []	73648	\N	\N	EFO	0	EFO	Carbamoyl-phosphate synthase deficiency	Carbamoyl-phosphate synthase deficiency
Orphanet:79167	Orphanet:147	\N	"" []	Orphanet:147	"Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." []	215111	\N	\N	EFO	1	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Carbamoyl-phosphate synthase deficiency
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:147	"Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." []	569242	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Carbamoyl-phosphate synthase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:147	"Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." []	1151003	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Carbamoyl-phosphate synthase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:147	"Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." []	2033329	\N	\N	EFO	4	EFO	genetic disorder	Carbamoyl-phosphate synthase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:147	"Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." []	2033330	\N	\N	EFO	4	EFO	metabolic disease	Carbamoyl-phosphate synthase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:147	"Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." []	3183821	\N	\N	EFO	5	EFO	disease	Carbamoyl-phosphate synthase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:147	"Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." []	3183822	\N	\N	EFO	5	EFO	disease	Carbamoyl-phosphate synthase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:147	"Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." []	4391614	\N	\N	EFO	6	EFO	disposition	Carbamoyl-phosphate synthase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:147	"Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." []	5410679	\N	\N	EFO	7	EFO	material property	Carbamoyl-phosphate synthase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:147	"Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." []	6148282	\N	\N	EFO	8	EFO	experimental factor	Carbamoyl-phosphate synthase deficiency
Orphanet:1471	\N	\N	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	73649	\N	\N	EFO	0	EFO	Coloboma of macula - brachydactyly type B	Coloboma of macula - brachydactyly type B
Orphanet:98665	Orphanet:1471	\N	"" []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	215112	\N	\N	EFO	1	EFO	Colobomatous and areolar dystrophy	Coloboma of macula - brachydactyly type B
Orphanet:98664	Orphanet:98665	\N	"" []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	569243	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Coloboma of macula - brachydactyly type B
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	1151004	\N	\N	EFO	3	EFO	Retinal dystrophy	Coloboma of macula - brachydactyly type B
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	2033331	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Coloboma of macula - brachydactyly type B
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	3183823	\N	\N	EFO	5	EFO	Rare genetic eye disease	Coloboma of macula - brachydactyly type B
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	4391615	\N	\N	EFO	6	EFO	genetic disorder	Coloboma of macula - brachydactyly type B
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	4391616	\N	\N	EFO	6	EFO	eye disease	Coloboma of macula - brachydactyly type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	5410680	\N	\N	EFO	7	EFO	disease	Coloboma of macula - brachydactyly type B
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	5410681	\N	\N	EFO	7	EFO	disease	Coloboma of macula - brachydactyly type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	6148283	\N	\N	EFO	8	EFO	disposition	Coloboma of macula - brachydactyly type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	6632136	\N	\N	EFO	9	EFO	material property	Coloboma of macula - brachydactyly type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1471	"Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." []	6925408	\N	\N	EFO	10	EFO	experimental factor	Coloboma of macula - brachydactyly type B
Orphanet:1473	\N	\N	"" []	Orphanet:1473	"" []	73650	\N	\N	EFO	0	EFO	Uveal coloboma - cleft lip and palate - intellectual disability	Uveal coloboma - cleft lip and palate - intellectual disability
Orphanet:102283	Orphanet:1473	\N	"" []	Orphanet:1473	"" []	215113	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Uveal coloboma - cleft lip and palate - intellectual disability
Orphanet:139039	Orphanet:1473	\N	"" []	Orphanet:1473	"" []	215114	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Uveal coloboma - cleft lip and palate - intellectual disability
Orphanet:183763	Orphanet:1473	\N	"" []	Orphanet:1473	"" []	215115	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Uveal coloboma - cleft lip and palate - intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1473	"" []	569244	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Uveal coloboma - cleft lip and palate - intellectual disability
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1473	"" []	569245	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Uveal coloboma - cleft lip and palate - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1473	"" []	569246	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Uveal coloboma - cleft lip and palate - intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1473	"" []	1151005	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Uveal coloboma - cleft lip and palate - intellectual disability
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1473	"" []	1151006	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Uveal coloboma - cleft lip and palate - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1473	"" []	1151007	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Uveal coloboma - cleft lip and palate - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1473	"" []	4391618	\N	\N	EFO	6	EFO	genetic disorder	Uveal coloboma - cleft lip and palate - intellectual disability
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1473	"" []	2033333	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Uveal coloboma - cleft lip and palate - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1473	"" []	2033334	\N	\N	EFO	4	EFO	genetic disorder	Uveal coloboma - cleft lip and palate - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1473	"" []	5059621	\N	\N	EFO	7	EFO	disease	Uveal coloboma - cleft lip and palate - intellectual disability
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1473	"" []	3183825	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Uveal coloboma - cleft lip and palate - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1473	"" []	5876793	\N	\N	EFO	8	EFO	disposition	Uveal coloboma - cleft lip and palate - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1473	"" []	6470004	\N	\N	EFO	9	EFO	material property	Uveal coloboma - cleft lip and palate - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1473	"" []	6848300	\N	\N	EFO	10	EFO	experimental factor	Uveal coloboma - cleft lip and palate - intellectual disability
Orphanet:1475	\N	\N	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	73651	\N	\N	EFO	0	EFO	Renal coloboma syndrome	Renal coloboma syndrome
Orphanet:108987	Orphanet:1475	\N	"" []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	215116	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Renal coloboma syndrome
Orphanet:93547	Orphanet:1475	\N	"" []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	215117	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Renal coloboma syndrome
Orphanet:98558	Orphanet:1475	\N	"" []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	215118	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	Renal coloboma syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	569247	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Renal coloboma syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	569248	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Renal coloboma syndrome
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	569249	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Renal coloboma syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	1151008	\N	\N	EFO	3	EFO	Rare genetic eye disease	Renal coloboma syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	1151009	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renal coloboma syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	1151010	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renal coloboma syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	1151011	\N	\N	EFO	3	EFO	Rare genetic renal disease	Renal coloboma syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	2033335	\N	\N	EFO	4	EFO	genetic disorder	Renal coloboma syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	2033336	\N	\N	EFO	4	EFO	eye disease	Renal coloboma syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	2033337	\N	\N	EFO	4	EFO	genetic disorder	Renal coloboma syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	2033338	\N	\N	EFO	4	EFO	genetic disorder	Renal coloboma syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	3183826	\N	\N	EFO	5	EFO	disease	Renal coloboma syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	3183827	\N	\N	EFO	5	EFO	disease	Renal coloboma syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	4391619	\N	\N	EFO	6	EFO	disposition	Renal coloboma syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	5410683	\N	\N	EFO	7	EFO	material property	Renal coloboma syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1475	"Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." []	6148285	\N	\N	EFO	8	EFO	experimental factor	Renal coloboma syndrome
Orphanet:1478	\N	\N	"" []	Orphanet:1478	"" []	73652	\N	\N	EFO	0	EFO	Interauricular communication	Interauricular communication
Orphanet:271853	Orphanet:1478	\N	"" []	Orphanet:1478	"" []	215119	\N	\N	EFO	1	EFO	Genetic cardiac anomaly	Interauricular communication
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:1478	"" []	569250	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Interauricular communication
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1478	"" []	1151012	\N	\N	EFO	3	EFO	genetic disorder	Interauricular communication
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1478	"" []	2033339	\N	\N	EFO	4	EFO	disease	Interauricular communication
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1478	"" []	3183828	\N	\N	EFO	5	EFO	disposition	Interauricular communication
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1478	"" []	4391620	\N	\N	EFO	6	EFO	material property	Interauricular communication
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1478	"" []	5410684	\N	\N	EFO	7	EFO	experimental factor	Interauricular communication
Orphanet:1479	\N	\N	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	73653	\N	\N	EFO	0	EFO	Atrial septal defect - atrioventricular conduction defects	Atrial septal defect - atrioventricular conduction defects
Orphanet:101934	Orphanet:1479	\N	"" []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	215120	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Atrial septal defect - atrioventricular conduction defects
Orphanet:156532	Orphanet:1479	\N	"" []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	215121	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Atrial septal defect - atrioventricular conduction defects
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	569251	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Atrial septal defect - atrioventricular conduction defects
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	569252	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Atrial septal defect - atrioventricular conduction defects
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	1151013	\N	\N	EFO	3	EFO	genetic disorder	Atrial septal defect - atrioventricular conduction defects
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	1151014	\N	\N	EFO	3	EFO	heart disease	Atrial septal defect - atrioventricular conduction defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	2033340	\N	\N	EFO	4	EFO	disease	Atrial septal defect - atrioventricular conduction defects
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	2033341	\N	\N	EFO	4	EFO	cardiovascular disease	Atrial septal defect - atrioventricular conduction defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	4391622	\N	\N	EFO	6	EFO	disposition	Atrial septal defect - atrioventricular conduction defects
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	3183830	\N	\N	EFO	5	EFO	disease	Atrial septal defect - atrioventricular conduction defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	5181632	\N	\N	EFO	7	EFO	material property	Atrial septal defect - atrioventricular conduction defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1479	"Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." []	5997006	\N	\N	EFO	8	EFO	experimental factor	Atrial septal defect - atrioventricular conduction defects
Orphanet:148	\N	\N	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	73654	\N	\N	EFO	0	EFO	Multiple carboxylase deficiency	Multiple carboxylase deficiency
Orphanet:79163	Orphanet:148	\N	"" []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	215122	\N	\N	EFO	1	EFO	Classic organic aciduria	Multiple carboxylase deficiency
Orphanet:79387	Orphanet:148	\N	"" []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	215123	\N	\N	EFO	1	EFO	Metabolic disease with skin involvement	Multiple carboxylase deficiency
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	569253	\N	\N	EFO	2	EFO	Organic aciduria	Multiple carboxylase deficiency
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	569254	\N	\N	EFO	2	EFO	Rare genetic skin disease	Multiple carboxylase deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	1151015	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Multiple carboxylase deficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	1151016	\N	\N	EFO	3	EFO	genetic disorder	Multiple carboxylase deficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	1151017	\N	\N	EFO	3	EFO	skin disease	Multiple carboxylase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	2033342	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Multiple carboxylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	4391623	\N	\N	EFO	6	EFO	disease	Multiple carboxylase deficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	2033344	\N	\N	EFO	4	EFO	disease	Multiple carboxylase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	3183831	\N	\N	EFO	5	EFO	genetic disorder	Multiple carboxylase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	3183832	\N	\N	EFO	5	EFO	metabolic disease	Multiple carboxylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	5059622	\N	\N	EFO	7	EFO	disposition	Multiple carboxylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	4391624	\N	\N	EFO	6	EFO	disease	Multiple carboxylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	5876794	\N	\N	EFO	8	EFO	material property	Multiple carboxylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:148	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	6470005	\N	\N	EFO	9	EFO	experimental factor	Multiple carboxylase deficiency
Orphanet:1480	\N	\N	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	Orphanet:1480	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	73655	\N	\N	EFO	0	EFO	Ventricular septal defect	Ventricular septal defect
EFO:0003777	Orphanet:1480	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1480	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	215124	\N	\N	EFO	1	EFO	heart disease	Ventricular septal defect
Orphanet:271853	Orphanet:1480	\N	"" []	Orphanet:1480	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	215125	\N	\N	EFO	1	EFO	Genetic cardiac anomaly	Ventricular septal defect
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1480	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	569255	\N	\N	EFO	2	EFO	cardiovascular disease	Ventricular septal defect
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:1480	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	569256	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ventricular septal defect
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1480	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	1151018	\N	\N	EFO	3	EFO	disease	Ventricular septal defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1480	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	1151019	\N	\N	EFO	3	EFO	genetic disorder	Ventricular septal defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1480	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	3183835	\N	\N	EFO	5	EFO	disposition	Ventricular septal defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1480	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	2033346	\N	\N	EFO	4	EFO	disease	Ventricular septal defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1480	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	4133321	\N	\N	EFO	6	EFO	material property	Ventricular septal defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1480	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	5181633	\N	\N	EFO	7	EFO	experimental factor	Ventricular septal defect
Orphanet:1484	\N	\N	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	73656	\N	\N	EFO	0	EFO	Contractures - ectodermal dysplasia - cleft lip/palate	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:139039	Orphanet:1484	\N	"" []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	215126	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:183763	Orphanet:1484	\N	"" []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	215127	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:79373	Orphanet:1484	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	215128	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	569257	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	569258	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	569259	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	569260	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	1151020	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	1151021	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	1151022	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	1151023	\N	\N	EFO	3	EFO	Rare genetic skin disease	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	2033347	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Contractures - ectodermal dysplasia - cleft lip/palate
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	2033348	\N	\N	EFO	4	EFO	genetic disorder	Contractures - ectodermal dysplasia - cleft lip/palate
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	4391627	\N	\N	EFO	6	EFO	genetic disorder	Contractures - ectodermal dysplasia - cleft lip/palate
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	2033350	\N	\N	EFO	4	EFO	genetic disorder	Contractures - ectodermal dysplasia - cleft lip/palate
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	2033351	\N	\N	EFO	4	EFO	skin disease	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	3183836	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Contractures - ectodermal dysplasia - cleft lip/palate
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	5059623	\N	\N	EFO	7	EFO	disease	Contractures - ectodermal dysplasia - cleft lip/palate
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	3183838	\N	\N	EFO	5	EFO	disease	Contractures - ectodermal dysplasia - cleft lip/palate
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	5876795	\N	\N	EFO	8	EFO	disposition	Contractures - ectodermal dysplasia - cleft lip/palate
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	6470006	\N	\N	EFO	9	EFO	material property	Contractures - ectodermal dysplasia - cleft lip/palate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1484	"Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." []	6848301	\N	\N	EFO	10	EFO	experimental factor	Contractures - ectodermal dysplasia - cleft lip/palate
Orphanet:1485	\N	\N	"" []	Orphanet:1485	"" []	73657	\N	\N	EFO	0	EFO	Arthrogryposis - hyperkeratosis, lethal form	Arthrogryposis - hyperkeratosis, lethal form
Orphanet:1037	Orphanet:1485	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:1485	"" []	215129	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Arthrogryposis - hyperkeratosis, lethal form
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:1485	"" []	569261	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Arthrogryposis - hyperkeratosis, lethal form
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1485	"" []	1151024	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Arthrogryposis - hyperkeratosis, lethal form
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1485	"" []	2033352	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Arthrogryposis - hyperkeratosis, lethal form
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1485	"" []	3183839	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Arthrogryposis - hyperkeratosis, lethal form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1485	"" []	4391629	\N	\N	EFO	6	EFO	genetic disorder	Arthrogryposis - hyperkeratosis, lethal form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1485	"" []	5410688	\N	\N	EFO	7	EFO	disease	Arthrogryposis - hyperkeratosis, lethal form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1485	"" []	6148287	\N	\N	EFO	8	EFO	disposition	Arthrogryposis - hyperkeratosis, lethal form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1485	"" []	6632137	\N	\N	EFO	9	EFO	material property	Arthrogryposis - hyperkeratosis, lethal form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1485	"" []	6925409	\N	\N	EFO	10	EFO	experimental factor	Arthrogryposis - hyperkeratosis, lethal form
Orphanet:1486	\N	\N	"" []	Orphanet:1486	"" []	73658	\N	\N	EFO	0	EFO	Lethal congenital contracture syndrome type 1	Lethal congenital contracture syndrome type 1
Orphanet:108993	Orphanet:1486	\N	"" []	Orphanet:1486	"" []	215130	\N	\N	EFO	1	EFO	Non-syndromic respiratory or mediastinal malformation	Lethal congenital contracture syndrome type 1
Orphanet:294965	Orphanet:1486	\N	"" []	Orphanet:1486	"" []	215131	\N	\N	EFO	1	EFO	Lethal congenital contracture syndrome	Lethal congenital contracture syndrome type 1
Orphanet:330206	Orphanet:1486	\N	"" []	Orphanet:1486	"" []	215132	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Lethal congenital contracture syndrome type 1
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:1486	"" []	569262	\N	\N	EFO	2	EFO	Genetic respiratory or mediastinal malformation	Lethal congenital contracture syndrome type 1
Orphanet:109007	Orphanet:294965	\N	"" []	Orphanet:1486	"" []	569263	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Lethal congenital contracture syndrome type 1
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1486	"" []	569264	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lethal congenital contracture syndrome type 1
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:1486	"" []	1151025	\N	\N	EFO	3	EFO	respiratory system disease	Lethal congenital contracture syndrome type 1
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:1486	"" []	1151026	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lethal congenital contracture syndrome type 1
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:1486	"" []	1151027	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Lethal congenital contracture syndrome type 1
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1486	"" []	1151028	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lethal congenital contracture syndrome type 1
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1486	"" []	2033353	\N	\N	EFO	4	EFO	disease	Lethal congenital contracture syndrome type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1486	"" []	4391632	\N	\N	EFO	6	EFO	genetic disorder	Lethal congenital contracture syndrome type 1
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1486	"" []	2033355	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Lethal congenital contracture syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1486	"" []	5876796	\N	\N	EFO	8	EFO	disposition	Lethal congenital contracture syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1486	"" []	5059624	\N	\N	EFO	7	EFO	disease	Lethal congenital contracture syndrome type 1
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1486	"" []	3183842	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lethal congenital contracture syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1486	"" []	6409853	\N	\N	EFO	9	EFO	material property	Lethal congenital contracture syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1486	"" []	6807707	\N	\N	EFO	10	EFO	experimental factor	Lethal congenital contracture syndrome type 1
Orphanet:1487	\N	\N	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	73659	\N	\N	EFO	0	EFO	Cooks syndrome	Cooks syndrome
Orphanet:69028	Orphanet:1487	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	215133	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Cooks syndrome
Orphanet:79370	Orphanet:1487	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	215134	\N	\N	EFO	1	EFO	Syndromic nail anomaly	Cooks syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	569265	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Cooks syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	569266	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Cooks syndrome
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	569267	\N	\N	EFO	2	EFO	Genetic nail anomaly	Cooks syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	1151029	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Cooks syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	1151030	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Cooks syndrome
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	1151031	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Cooks syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	2033356	\N	\N	EFO	4	EFO	Rare genetic bone disease	Cooks syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	2033357	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Cooks syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	2033358	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cooks syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	2033359	\N	\N	EFO	4	EFO	Rare genetic skin disease	Cooks syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	3183843	\N	\N	EFO	5	EFO	genetic disorder	Cooks syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	3183844	\N	\N	EFO	5	EFO	bone disease	Cooks syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	3183845	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cooks syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	4391635	\N	\N	EFO	6	EFO	genetic disorder	Cooks syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	3183847	\N	\N	EFO	5	EFO	genetic disorder	Cooks syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	3183848	\N	\N	EFO	5	EFO	skin disease	Cooks syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	5181635	\N	\N	EFO	7	EFO	disease	Cooks syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	4391634	\N	\N	EFO	6	EFO	skeletal system disease	Cooks syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	4391636	\N	\N	EFO	6	EFO	disease	Cooks syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	5997008	\N	\N	EFO	8	EFO	disposition	Cooks syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	5410691	\N	\N	EFO	7	EFO	disease	Cooks syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	6550566	\N	\N	EFO	9	EFO	material property	Cooks syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1487	"Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than 50% of digits are usually involved and the thumbs may appear digitalized." []	6889039	\N	\N	EFO	10	EFO	experimental factor	Cooks syndrome
Orphanet:1488	\N	\N	"" []	Orphanet:1488	"" []	73660	\N	\N	EFO	0	EFO	Cooper-Jabs syndrome	Cooper-Jabs syndrome
Orphanet:330206	Orphanet:1488	\N	"" []	Orphanet:1488	"" []	215135	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Cooper-Jabs syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1488	"" []	569268	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cooper-Jabs syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1488	"" []	1151032	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cooper-Jabs syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1488	"" []	2033360	\N	\N	EFO	4	EFO	genetic disorder	Cooper-Jabs syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1488	"" []	3183849	\N	\N	EFO	5	EFO	disease	Cooper-Jabs syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1488	"" []	4391637	\N	\N	EFO	6	EFO	disposition	Cooper-Jabs syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1488	"" []	5410692	\N	\N	EFO	7	EFO	material property	Cooper-Jabs syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1488	"" []	6148289	\N	\N	EFO	8	EFO	experimental factor	Cooper-Jabs syndrome
Orphanet:1490	\N	\N	"" []	Orphanet:1490	"" []	73661	\N	\N	EFO	0	EFO	Corneal dystrophy - perceptive deafness	Corneal dystrophy - perceptive deafness
Orphanet:90642	Orphanet:1490	\N	"" []	Orphanet:1490	"" []	215136	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Corneal dystrophy - perceptive deafness
Orphanet:98628	Orphanet:1490	\N	"" []	Orphanet:1490	"" []	215137	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	Corneal dystrophy - perceptive deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1490	"" []	569269	\N	\N	EFO	2	EFO	Rare genetic deafness	Corneal dystrophy - perceptive deafness
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:1490	"" []	569270	\N	\N	EFO	2	EFO	Corneal dystrophy	Corneal dystrophy - perceptive deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1490	"" []	1151033	\N	\N	EFO	3	EFO	genetic disorder	Corneal dystrophy - perceptive deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1490	"" []	1151034	\N	\N	EFO	3	EFO	auditory system disease	Corneal dystrophy - perceptive deafness
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:1490	"" []	1151035	\N	\N	EFO	3	EFO	Rare genetic eye disease	Corneal dystrophy - perceptive deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1490	"" []	3183852	\N	\N	EFO	5	EFO	disease	Corneal dystrophy - perceptive deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1490	"" []	2033362	\N	\N	EFO	4	EFO	sensory system disease	Corneal dystrophy - perceptive deafness
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1490	"" []	2033363	\N	\N	EFO	4	EFO	genetic disorder	Corneal dystrophy - perceptive deafness
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1490	"" []	2033364	\N	\N	EFO	4	EFO	eye disease	Corneal dystrophy - perceptive deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1490	"" []	5410694	\N	\N	EFO	7	EFO	disposition	Corneal dystrophy - perceptive deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1490	"" []	3183851	\N	\N	EFO	5	EFO	nervous system disease	Corneal dystrophy - perceptive deafness
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1490	"" []	3183853	\N	\N	EFO	5	EFO	disease	Corneal dystrophy - perceptive deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1490	"" []	5876797	\N	\N	EFO	8	EFO	material property	Corneal dystrophy - perceptive deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1490	"" []	4391639	\N	\N	EFO	6	EFO	disease	Corneal dystrophy - perceptive deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1490	"" []	6470007	\N	\N	EFO	9	EFO	experimental factor	Corneal dystrophy - perceptive deafness
Orphanet:1493	\N	\N	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	73662	\N	\N	EFO	0	EFO	Vici syndrome	Vici syndrome
Orphanet:101972	Orphanet:1493	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	215138	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Vici syndrome
Orphanet:183469	Orphanet:1493	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	215139	\N	\N	EFO	1	EFO	Genetic hypopigmentation of the skin	Vici syndrome
Orphanet:217619	Orphanet:1493	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	215140	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	Vici syndrome
Orphanet:269573	Orphanet:1493	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	215141	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Vici syndrome
Orphanet:330206	Orphanet:1493	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	215142	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Vici syndrome
Orphanet:98641	Orphanet:1493	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	215143	\N	\N	EFO	1	EFO	Syndromic cataract	Vici syndrome
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	569271	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Vici syndrome
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	569272	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Vici syndrome
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	569273	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Vici syndrome
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	569274	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Vici syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	569275	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Vici syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	569276	\N	\N	EFO	2	EFO	Rare cataract	Vici syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	1151036	\N	\N	EFO	3	EFO	Primary immunodeficiency	Vici syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	1151037	\N	\N	EFO	3	EFO	Rare genetic skin disease	Vici syndrome
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	1151038	\N	\N	EFO	3	EFO	cardiomyopathy	Vici syndrome
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	1151039	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Vici syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	1151040	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Vici syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	1151041	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Vici syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	1151042	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Vici syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	2033365	\N	\N	EFO	4	EFO	Rare genetic immune disease	Vici syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	2033366	\N	\N	EFO	4	EFO	genetic disorder	Vici syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	2033367	\N	\N	EFO	4	EFO	skin disease	Vici syndrome
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	2033368	\N	\N	EFO	4	EFO	heart disease	Vici syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	2033369	\N	\N	EFO	4	EFO	genetic disorder	Vici syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	2033370	\N	\N	EFO	4	EFO	heart disease	Vici syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	2033371	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Vici syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	2033372	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Vici syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	3183859	\N	\N	EFO	5	EFO	genetic disorder	Vici syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	2033374	\N	\N	EFO	4	EFO	Rare genetic eye disease	Vici syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	3183854	\N	\N	EFO	5	EFO	genetic disorder	Vici syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	3183855	\N	\N	EFO	5	EFO	immune system disease	Vici syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	4133323	\N	\N	EFO	6	EFO	disease	Vici syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	3183857	\N	\N	EFO	5	EFO	disease	Vici syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	3183858	\N	\N	EFO	5	EFO	cardiovascular disease	Vici syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	3183860	\N	\N	EFO	5	EFO	genetic disorder	Vici syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	3183861	\N	\N	EFO	5	EFO	genetic disorder	Vici syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	3183862	\N	\N	EFO	5	EFO	eye disease	Vici syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	4391640	\N	\N	EFO	6	EFO	disease	Vici syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	5181637	\N	\N	EFO	7	EFO	disposition	Vici syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	4391642	\N	\N	EFO	6	EFO	disease	Vici syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	4391643	\N	\N	EFO	6	EFO	disease	Vici syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	5997010	\N	\N	EFO	8	EFO	material property	Vici syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1493	"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." []	6550567	\N	\N	EFO	9	EFO	experimental factor	Vici syndrome
Orphanet:1495	\N	\N	"" []	Orphanet:1495	"" []	73663	\N	\N	EFO	0	EFO	Intellectual disability - hypoplastic corpus callosum - preauricular tag	Intellectual disability - hypoplastic corpus callosum - preauricular tag
Orphanet:102283	Orphanet:1495	\N	"" []	Orphanet:1495	"" []	215144	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability - hypoplastic corpus callosum - preauricular tag
Orphanet:183763	Orphanet:1495	\N	"" []	Orphanet:1495	"" []	215145	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - hypoplastic corpus callosum - preauricular tag
Orphanet:269573	Orphanet:1495	\N	"" []	Orphanet:1495	"" []	215146	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Intellectual disability - hypoplastic corpus callosum - preauricular tag
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1495	"" []	569277	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability - hypoplastic corpus callosum - preauricular tag
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1495	"" []	569278	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - hypoplastic corpus callosum - preauricular tag
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:1495	"" []	569279	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Intellectual disability - hypoplastic corpus callosum - preauricular tag
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1495	"" []	1151043	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability - hypoplastic corpus callosum - preauricular tag
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1495	"" []	1151044	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - hypoplastic corpus callosum - preauricular tag
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1495	"" []	1151045	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Intellectual disability - hypoplastic corpus callosum - preauricular tag
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1495	"" []	3183864	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability - hypoplastic corpus callosum - preauricular tag
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1495	"" []	3183865	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability - hypoplastic corpus callosum - preauricular tag
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1495	"" []	2033377	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability - hypoplastic corpus callosum - preauricular tag
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1495	"" []	2033378	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Intellectual disability - hypoplastic corpus callosum - preauricular tag
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1495	"" []	4133324	\N	\N	EFO	6	EFO	disease	Intellectual disability - hypoplastic corpus callosum - preauricular tag
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1495	"" []	5181638	\N	\N	EFO	7	EFO	disposition	Intellectual disability - hypoplastic corpus callosum - preauricular tag
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1495	"" []	5997011	\N	\N	EFO	8	EFO	material property	Intellectual disability - hypoplastic corpus callosum - preauricular tag
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1495	"" []	6550568	\N	\N	EFO	9	EFO	experimental factor	Intellectual disability - hypoplastic corpus callosum - preauricular tag
Orphanet:1496	\N	\N	"" []	Orphanet:1496	"" []	73664	\N	\N	EFO	0	EFO	Corpus callosum agenesis - neuronopathy	Corpus callosum agenesis - neuronopathy
Orphanet:207012	Orphanet:1496	\N	"" []	Orphanet:1496	"" []	215147	\N	\N	EFO	1	EFO	Spinal muscular atrophy associated with central nervous system anomaly	Corpus callosum agenesis - neuronopathy
Orphanet:269573	Orphanet:1496	\N	"" []	Orphanet:1496	"" []	215148	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Corpus callosum agenesis - neuronopathy
Orphanet:206701	Orphanet:207012	\N	"" []	Orphanet:1496	"" []	569280	\N	\N	EFO	2	EFO	Bulbospinal muscular atrophy	Corpus callosum agenesis - neuronopathy
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:1496	"" []	569281	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Corpus callosum agenesis - neuronopathy
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:1496	"" []	1151046	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Corpus callosum agenesis - neuronopathy
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1496	"" []	1151047	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Corpus callosum agenesis - neuronopathy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:1496	"" []	2033379	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Corpus callosum agenesis - neuronopathy
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1496	"" []	2033380	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Corpus callosum agenesis - neuronopathy
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1496	"" []	2033381	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Corpus callosum agenesis - neuronopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:1496	"" []	3183866	\N	\N	EFO	5	EFO	muscular disease	Corpus callosum agenesis - neuronopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:1496	"" []	3183867	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Corpus callosum agenesis - neuronopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1496	"" []	3183868	\N	\N	EFO	5	EFO	genetic disorder	Corpus callosum agenesis - neuronopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1496	"" []	4391646	\N	\N	EFO	6	EFO	genetic disorder	Corpus callosum agenesis - neuronopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1496	"" []	4391645	\N	\N	EFO	6	EFO	skeletal system disease	Corpus callosum agenesis - neuronopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1496	"" []	5181639	\N	\N	EFO	7	EFO	disease	Corpus callosum agenesis - neuronopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1496	"" []	5410697	\N	\N	EFO	7	EFO	disease	Corpus callosum agenesis - neuronopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1496	"" []	5997012	\N	\N	EFO	8	EFO	disposition	Corpus callosum agenesis - neuronopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1496	"" []	6550569	\N	\N	EFO	9	EFO	material property	Corpus callosum agenesis - neuronopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1496	"" []	6889040	\N	\N	EFO	10	EFO	experimental factor	Corpus callosum agenesis - neuronopathy
Orphanet:1497	\N	\N	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	73665	\N	\N	EFO	0	EFO	X-linked complicated corpus callosum dysgenesis	X-linked complicated corpus callosum dysgenesis
Orphanet:275543	Orphanet:1497	\N	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	215149	\N	\N	EFO	1	EFO	L1 syndrome	X-linked complicated corpus callosum dysgenesis
Orphanet:269573	Orphanet:275543	\N	"" []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	569282	\N	\N	EFO	2	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	X-linked complicated corpus callosum dysgenesis
Orphanet:98464	Orphanet:275543	\N	"" []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	569283	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked complicated corpus callosum dysgenesis
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	1151048	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	X-linked complicated corpus callosum dysgenesis
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	1151049	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked complicated corpus callosum dysgenesis
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	2033382	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	X-linked complicated corpus callosum dysgenesis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	2033383	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked complicated corpus callosum dysgenesis
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	3183870	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked complicated corpus callosum dysgenesis
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	3183871	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked complicated corpus callosum dysgenesis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	3183872	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked complicated corpus callosum dysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	4391648	\N	\N	EFO	6	EFO	genetic disorder	X-linked complicated corpus callosum dysgenesis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	4391649	\N	\N	EFO	6	EFO	genetic disorder	X-linked complicated corpus callosum dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	5410699	\N	\N	EFO	7	EFO	disease	X-linked complicated corpus callosum dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	6148293	\N	\N	EFO	8	EFO	disposition	X-linked complicated corpus callosum dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	6632140	\N	\N	EFO	9	EFO	material property	X-linked complicated corpus callosum dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1497	"X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." []	6925410	\N	\N	EFO	10	EFO	experimental factor	X-linked complicated corpus callosum dysgenesis
Orphanet:15	\N	\N	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	73666	\N	\N	EFO	0	EFO	Achondroplasia	Achondroplasia
EFO:0005802	Orphanet:15	\N	"Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	215150	\N	\N	EFO	1	EFO	cartilage disease	Achondroplasia
Orphanet:364536	Orphanet:15	\N	"" []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	215151	\N	\N	EFO	1	EFO	Primary bone dysplasia with micromelia	Achondroplasia
Orphanet:93420	Orphanet:15	\N	"" []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	215152	\N	\N	EFO	1	EFO	FGFR3-related chondrodysplasia	Achondroplasia
EFO:0002461	EFO:0005802	\N	"Any disease which affects part of the skeletal system." []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	569284	\N	\N	EFO	2	EFO	skeletal system disease	Achondroplasia
Orphanet:364526	Orphanet:364536	\N	"" []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	569285	\N	\N	EFO	2	EFO	Primary bone dysplasia	Achondroplasia
Orphanet:364803	Orphanet:93420	\N	"" []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	569286	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Achondroplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	4391652	\N	\N	EFO	6	EFO	disease	Achondroplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	1151051	\N	\N	EFO	3	EFO	Rare genetic bone disease	Achondroplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	1151052	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Achondroplasia
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	1151053	\N	\N	EFO	3	EFO	Rare genetic bone disease	Achondroplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	5028388	\N	\N	EFO	7	EFO	disposition	Achondroplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	2033385	\N	\N	EFO	4	EFO	genetic disorder	Achondroplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	2033386	\N	\N	EFO	4	EFO	bone disease	Achondroplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	2033387	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Achondroplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	5817493	\N	\N	EFO	8	EFO	material property	Achondroplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	4391653	\N	\N	EFO	6	EFO	disease	Achondroplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	3183875	\N	\N	EFO	5	EFO	skeletal system disease	Achondroplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	3183876	\N	\N	EFO	5	EFO	genetic disorder	Achondroplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:15	"Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." []	6409854	\N	\N	EFO	9	EFO	experimental factor	Achondroplasia
Orphanet:1505	\N	\N	"" []	Orphanet:1505	"" []	73667	\N	\N	EFO	0	EFO	Short rib-polydactyly syndrome	Short rib-polydactyly syndrome
Orphanet:93426	Orphanet:1505	\N	"" []	Orphanet:1505	"" []	215153	\N	\N	EFO	1	EFO	Short rib dysplasia	Short rib-polydactyly syndrome
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:1505	"" []	569287	\N	\N	EFO	2	EFO	Primary bone dysplasia	Short rib-polydactyly syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1505	"" []	1151054	\N	\N	EFO	3	EFO	Rare genetic bone disease	Short rib-polydactyly syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1505	"" []	1151055	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Short rib-polydactyly syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1505	"" []	2033388	\N	\N	EFO	4	EFO	genetic disorder	Short rib-polydactyly syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1505	"" []	2033389	\N	\N	EFO	4	EFO	bone disease	Short rib-polydactyly syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1505	"" []	2033390	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Short rib-polydactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1505	"" []	4391656	\N	\N	EFO	6	EFO	disease	Short rib-polydactyly syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1505	"" []	3183878	\N	\N	EFO	5	EFO	skeletal system disease	Short rib-polydactyly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1505	"" []	3183879	\N	\N	EFO	5	EFO	genetic disorder	Short rib-polydactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1505	"" []	5181640	\N	\N	EFO	7	EFO	disposition	Short rib-polydactyly syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1505	"" []	4391655	\N	\N	EFO	6	EFO	disease	Short rib-polydactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1505	"" []	5997013	\N	\N	EFO	8	EFO	material property	Short rib-polydactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1505	"" []	6550570	\N	\N	EFO	9	EFO	experimental factor	Short rib-polydactyly syndrome
Orphanet:1506	\N	\N	"" []	Orphanet:1506	"" []	73668	\N	\N	EFO	0	EFO	Thin ribs - tubular bones - dysmorphism	Thin ribs - tubular bones - dysmorphism
Orphanet:93440	Orphanet:1506	\N	"" []	Orphanet:1506	"" []	215154	\N	\N	EFO	1	EFO	Slender bone dysplasia	Thin ribs - tubular bones - dysmorphism
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:1506	"" []	569288	\N	\N	EFO	2	EFO	Primary bone dysplasia	Thin ribs - tubular bones - dysmorphism
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1506	"" []	1151056	\N	\N	EFO	3	EFO	Rare genetic bone disease	Thin ribs - tubular bones - dysmorphism
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1506	"" []	1151057	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Thin ribs - tubular bones - dysmorphism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1506	"" []	2033391	\N	\N	EFO	4	EFO	genetic disorder	Thin ribs - tubular bones - dysmorphism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1506	"" []	2033392	\N	\N	EFO	4	EFO	bone disease	Thin ribs - tubular bones - dysmorphism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1506	"" []	2033393	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Thin ribs - tubular bones - dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1506	"" []	4391659	\N	\N	EFO	6	EFO	disease	Thin ribs - tubular bones - dysmorphism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1506	"" []	3183881	\N	\N	EFO	5	EFO	skeletal system disease	Thin ribs - tubular bones - dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1506	"" []	3183882	\N	\N	EFO	5	EFO	genetic disorder	Thin ribs - tubular bones - dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1506	"" []	5181641	\N	\N	EFO	7	EFO	disposition	Thin ribs - tubular bones - dysmorphism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1506	"" []	4391658	\N	\N	EFO	6	EFO	disease	Thin ribs - tubular bones - dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1506	"" []	5997014	\N	\N	EFO	8	EFO	material property	Thin ribs - tubular bones - dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1506	"" []	6550571	\N	\N	EFO	9	EFO	experimental factor	Thin ribs - tubular bones - dysmorphism
Orphanet:1507	\N	\N	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	73669	\N	\N	EFO	0	EFO	Autosomal recessive Robinow syndrome	Autosomal recessive Robinow syndrome
Orphanet:97360	Orphanet:1507	\N	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	215155	\N	\N	EFO	1	EFO	Robinow syndrome	Autosomal recessive Robinow syndrome
Orphanet:183570	Orphanet:97360	\N	"" []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	569289	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Autosomal recessive Robinow syndrome
Orphanet:330197	Orphanet:97360	\N	"" []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	569290	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Autosomal recessive Robinow syndrome
Orphanet:93438	Orphanet:97360	\N	"" []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	569291	\N	\N	EFO	2	EFO	Mesomelic and rhizo-mesomelic dysplasia	Autosomal recessive Robinow syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	1151058	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive Robinow syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	1151059	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Autosomal recessive Robinow syndrome
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	1151060	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal recessive Robinow syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	4391662	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive Robinow syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	2033395	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive Robinow syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	2033396	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal recessive Robinow syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	2033397	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal recessive Robinow syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	5059626	\N	\N	EFO	7	EFO	disease	Autosomal recessive Robinow syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	3183885	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive Robinow syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	3183886	\N	\N	EFO	5	EFO	bone disease	Autosomal recessive Robinow syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	3183887	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive Robinow syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	5876799	\N	\N	EFO	8	EFO	disposition	Autosomal recessive Robinow syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	4391661	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal recessive Robinow syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	6470008	\N	\N	EFO	9	EFO	material property	Autosomal recessive Robinow syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	5410703	\N	\N	EFO	7	EFO	disease	Autosomal recessive Robinow syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1507	"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." []	6848302	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive Robinow syndrome
Orphanet:1508	\N	\N	"" []	Orphanet:1508	"" []	73670	\N	\N	EFO	0	EFO	Coxoauricular syndrome	Coxoauricular syndrome
Orphanet:93441	Orphanet:1508	\N	"" []	Orphanet:1508	"" []	215156	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Coxoauricular syndrome
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:1508	"" []	569292	\N	\N	EFO	2	EFO	Primary bone dysplasia	Coxoauricular syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1508	"" []	1151061	\N	\N	EFO	3	EFO	Rare genetic bone disease	Coxoauricular syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1508	"" []	1151062	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Coxoauricular syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1508	"" []	2033398	\N	\N	EFO	4	EFO	genetic disorder	Coxoauricular syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1508	"" []	2033399	\N	\N	EFO	4	EFO	bone disease	Coxoauricular syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1508	"" []	2033400	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Coxoauricular syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1508	"" []	4391665	\N	\N	EFO	6	EFO	disease	Coxoauricular syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1508	"" []	3183889	\N	\N	EFO	5	EFO	skeletal system disease	Coxoauricular syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1508	"" []	3183890	\N	\N	EFO	5	EFO	genetic disorder	Coxoauricular syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1508	"" []	5181643	\N	\N	EFO	7	EFO	disposition	Coxoauricular syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1508	"" []	4391664	\N	\N	EFO	6	EFO	disease	Coxoauricular syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1508	"" []	5997016	\N	\N	EFO	8	EFO	material property	Coxoauricular syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1508	"" []	6550573	\N	\N	EFO	9	EFO	experimental factor	Coxoauricular syndrome
Orphanet:1509	\N	\N	"" []	Orphanet:1509	"" []	73671	\N	\N	EFO	0	EFO	Coxopodopatellar syndrome	Coxopodopatellar syndrome
Orphanet:93455	Orphanet:1509	\N	"" []	Orphanet:1509	"" []	215157	\N	\N	EFO	1	EFO	Patellar dysostosis	Coxopodopatellar syndrome
Orphanet:404568	Orphanet:93455	\N	"" []	Orphanet:1509	"" []	569293	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Coxopodopatellar syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1509	"" []	1151063	\N	\N	EFO	3	EFO	Rare genetic bone disease	Coxopodopatellar syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1509	"" []	1151064	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Coxopodopatellar syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1509	"" []	2033401	\N	\N	EFO	4	EFO	genetic disorder	Coxopodopatellar syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1509	"" []	2033402	\N	\N	EFO	4	EFO	bone disease	Coxopodopatellar syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1509	"" []	2033403	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Coxopodopatellar syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1509	"" []	4391668	\N	\N	EFO	6	EFO	disease	Coxopodopatellar syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1509	"" []	3183892	\N	\N	EFO	5	EFO	skeletal system disease	Coxopodopatellar syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1509	"" []	3183893	\N	\N	EFO	5	EFO	genetic disorder	Coxopodopatellar syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1509	"" []	5181644	\N	\N	EFO	7	EFO	disposition	Coxopodopatellar syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1509	"" []	4391667	\N	\N	EFO	6	EFO	disease	Coxopodopatellar syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1509	"" []	5997017	\N	\N	EFO	8	EFO	material property	Coxopodopatellar syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1509	"" []	6550574	\N	\N	EFO	9	EFO	experimental factor	Coxopodopatellar syndrome
Orphanet:1512	\N	\N	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	73672	\N	\N	EFO	0	EFO	Crane-Heise syndrome	Crane-Heise syndrome
Orphanet:102283	Orphanet:1512	\N	"" []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	215158	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Crane-Heise syndrome
Orphanet:139039	Orphanet:1512	\N	"" []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	215159	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Crane-Heise syndrome
Orphanet:183763	Orphanet:1512	\N	"" []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	215160	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Crane-Heise syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	569294	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Crane-Heise syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	569295	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Crane-Heise syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	569296	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Crane-Heise syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	1151065	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Crane-Heise syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	1151066	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Crane-Heise syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	1151067	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Crane-Heise syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	4391670	\N	\N	EFO	6	EFO	genetic disorder	Crane-Heise syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	2033405	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Crane-Heise syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	2033406	\N	\N	EFO	4	EFO	genetic disorder	Crane-Heise syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	5059627	\N	\N	EFO	7	EFO	disease	Crane-Heise syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	3183895	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Crane-Heise syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	5876800	\N	\N	EFO	8	EFO	disposition	Crane-Heise syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	6470009	\N	\N	EFO	9	EFO	material property	Crane-Heise syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1512	"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." []	6848303	\N	\N	EFO	10	EFO	experimental factor	Crane-Heise syndrome
Orphanet:1513	\N	\N	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	73673	\N	\N	EFO	0	EFO	Craniodiaphyseal dysplasia	Craniodiaphyseal dysplasia
Orphanet:183542	Orphanet:1513	\N	"" []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	215161	\N	\N	EFO	1	EFO	Genetic cranial malformation	Craniodiaphyseal dysplasia
Orphanet:93444	Orphanet:1513	\N	"" []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	215162	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Craniodiaphyseal dysplasia
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	569297	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Craniodiaphyseal dysplasia
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	569298	\N	\N	EFO	2	EFO	Primary bone dysplasia	Craniodiaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	3183899	\N	\N	EFO	5	EFO	genetic disorder	Craniodiaphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	1151069	\N	\N	EFO	3	EFO	Rare genetic bone disease	Craniodiaphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	1151070	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Craniodiaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	4066856	\N	\N	EFO	6	EFO	disease	Craniodiaphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	2033408	\N	\N	EFO	4	EFO	genetic disorder	Craniodiaphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	2033409	\N	\N	EFO	4	EFO	bone disease	Craniodiaphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	2033410	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniodiaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	5059628	\N	\N	EFO	7	EFO	disposition	Craniodiaphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	3183898	\N	\N	EFO	5	EFO	skeletal system disease	Craniodiaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	5876801	\N	\N	EFO	8	EFO	material property	Craniodiaphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	4391672	\N	\N	EFO	6	EFO	disease	Craniodiaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1513	"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." []	6470010	\N	\N	EFO	9	EFO	experimental factor	Craniodiaphyseal dysplasia
Orphanet:1514	\N	\N	"" []	Orphanet:1514	"" []	73674	\N	\N	EFO	0	EFO	Craniodigital syndrome - intellectual disability	Craniodigital syndrome - intellectual disability
Orphanet:102283	Orphanet:1514	\N	"" []	Orphanet:1514	"" []	215163	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Craniodigital syndrome - intellectual disability
Orphanet:183763	Orphanet:1514	\N	"" []	Orphanet:1514	"" []	215164	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Craniodigital syndrome - intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1514	"" []	569299	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Craniodigital syndrome - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1514	"" []	569300	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Craniodigital syndrome - intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1514	"" []	1151071	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Craniodigital syndrome - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1514	"" []	1151072	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Craniodigital syndrome - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1514	"" []	2033411	\N	\N	EFO	4	EFO	genetic disorder	Craniodigital syndrome - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1514	"" []	2033412	\N	\N	EFO	4	EFO	genetic disorder	Craniodigital syndrome - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1514	"" []	3183900	\N	\N	EFO	5	EFO	disease	Craniodigital syndrome - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1514	"" []	4391673	\N	\N	EFO	6	EFO	disposition	Craniodigital syndrome - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1514	"" []	5410708	\N	\N	EFO	7	EFO	material property	Craniodigital syndrome - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1514	"" []	6148300	\N	\N	EFO	8	EFO	experimental factor	Craniodigital syndrome - intellectual disability
Orphanet:1515	\N	\N	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	73675	\N	\N	EFO	0	EFO	Cranioectodermal dysplasia	Cranioectodermal dysplasia
Orphanet:139393	Orphanet:1515	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	215165	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Cranioectodermal dysplasia
Orphanet:1505	Orphanet:1515	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	215166	\N	\N	EFO	1	EFO	Short rib-polydactyly syndrome	Cranioectodermal dysplasia
Orphanet:79373	Orphanet:1515	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	215167	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Cranioectodermal dysplasia
Orphanet:93547	Orphanet:1515	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	215168	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Cranioectodermal dysplasia
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	569301	\N	\N	EFO	2	EFO	Craniosynostosis	Cranioectodermal dysplasia
Orphanet:93426	Orphanet:1505	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	569302	\N	\N	EFO	2	EFO	Short rib dysplasia	Cranioectodermal dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	569303	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Cranioectodermal dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	569304	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Cranioectodermal dysplasia
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	569305	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Cranioectodermal dysplasia
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	1151073	\N	\N	EFO	3	EFO	Genetic cranial malformation	Cranioectodermal dysplasia
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	1151074	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Cranioectodermal dysplasia
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	1151075	\N	\N	EFO	3	EFO	Primary bone dysplasia	Cranioectodermal dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	1151076	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cranioectodermal dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	1151077	\N	\N	EFO	3	EFO	Rare genetic skin disease	Cranioectodermal dysplasia
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	1151078	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cranioectodermal dysplasia
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	1151079	\N	\N	EFO	3	EFO	Rare genetic renal disease	Cranioectodermal dysplasia
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	2033413	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cranioectodermal dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	2033414	\N	\N	EFO	4	EFO	Rare genetic bone disease	Cranioectodermal dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	2033415	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Cranioectodermal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	2033416	\N	\N	EFO	4	EFO	Rare genetic bone disease	Cranioectodermal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	2033417	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Cranioectodermal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	4391675	\N	\N	EFO	6	EFO	genetic disorder	Cranioectodermal dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	2033419	\N	\N	EFO	4	EFO	genetic disorder	Cranioectodermal dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	2033420	\N	\N	EFO	4	EFO	skin disease	Cranioectodermal dysplasia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	2033421	\N	\N	EFO	4	EFO	genetic disorder	Cranioectodermal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	3183902	\N	\N	EFO	5	EFO	genetic disorder	Cranioectodermal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	3183903	\N	\N	EFO	5	EFO	bone disease	Cranioectodermal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	3183904	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cranioectodermal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	5059629	\N	\N	EFO	7	EFO	disease	Cranioectodermal dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	3183906	\N	\N	EFO	5	EFO	disease	Cranioectodermal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	4391674	\N	\N	EFO	6	EFO	skeletal system disease	Cranioectodermal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	5876802	\N	\N	EFO	8	EFO	disposition	Cranioectodermal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	5410709	\N	\N	EFO	7	EFO	disease	Cranioectodermal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	6470011	\N	\N	EFO	9	EFO	material property	Cranioectodermal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1515	"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." []	6848304	\N	\N	EFO	10	EFO	experimental factor	Cranioectodermal dysplasia
Orphanet:1516	\N	\N	"Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity), and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus." []	Orphanet:1516	"Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity), and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus." []	73676	\N	\N	EFO	0	EFO	Craniofacial dyssynostosis	Craniofacial dyssynostosis
Orphanet:183542	Orphanet:1516	\N	"" []	Orphanet:1516	"Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity), and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus." []	215169	\N	\N	EFO	1	EFO	Genetic cranial malformation	Craniofacial dyssynostosis
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1516	"Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity), and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus." []	569306	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Craniofacial dyssynostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1516	"Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity), and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus." []	1151080	\N	\N	EFO	3	EFO	genetic disorder	Craniofacial dyssynostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1516	"Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity), and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus." []	2033422	\N	\N	EFO	4	EFO	disease	Craniofacial dyssynostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1516	"Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity), and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus." []	3183907	\N	\N	EFO	5	EFO	disposition	Craniofacial dyssynostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1516	"Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity), and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus." []	4391677	\N	\N	EFO	6	EFO	material property	Craniofacial dyssynostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1516	"Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity), and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus." []	5410711	\N	\N	EFO	7	EFO	experimental factor	Craniofacial dyssynostosis
Orphanet:1517	\N	\N	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	73677	\N	\N	EFO	0	EFO	Hypertrichotic osteochondrodysplasia, Cantu type	Hypertrichotic osteochondrodysplasia, Cantu type
Orphanet:330197	Orphanet:1517	\N	"" []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	215170	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Hypertrichotic osteochondrodysplasia, Cantu type
Orphanet:93453	Orphanet:1517	\N	"" []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	215171	\N	\N	EFO	1	EFO	Dysostosis with predominant craniofacial involvement	Hypertrichotic osteochondrodysplasia, Cantu type
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	569307	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hypertrichotic osteochondrodysplasia, Cantu type
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	569308	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Hypertrichotic osteochondrodysplasia, Cantu type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	1151081	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypertrichotic osteochondrodysplasia, Cantu type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	1151082	\N	\N	EFO	3	EFO	Rare genetic bone disease	Hypertrichotic osteochondrodysplasia, Cantu type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	1151083	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Hypertrichotic osteochondrodysplasia, Cantu type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	3183910	\N	\N	EFO	5	EFO	genetic disorder	Hypertrichotic osteochondrodysplasia, Cantu type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	2033424	\N	\N	EFO	4	EFO	genetic disorder	Hypertrichotic osteochondrodysplasia, Cantu type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	2033425	\N	\N	EFO	4	EFO	bone disease	Hypertrichotic osteochondrodysplasia, Cantu type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	2033426	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hypertrichotic osteochondrodysplasia, Cantu type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	4133328	\N	\N	EFO	6	EFO	disease	Hypertrichotic osteochondrodysplasia, Cantu type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	3183909	\N	\N	EFO	5	EFO	skeletal system disease	Hypertrichotic osteochondrodysplasia, Cantu type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	5181647	\N	\N	EFO	7	EFO	disposition	Hypertrichotic osteochondrodysplasia, Cantu type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	4391679	\N	\N	EFO	6	EFO	disease	Hypertrichotic osteochondrodysplasia, Cantu type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	5997020	\N	\N	EFO	8	EFO	material property	Hypertrichotic osteochondrodysplasia, Cantu type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1517	"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." []	6550576	\N	\N	EFO	9	EFO	experimental factor	Hypertrichotic osteochondrodysplasia, Cantu type
Orphanet:1519	\N	\N	"" []	Orphanet:1519	"" []	73678	\N	\N	EFO	0	EFO	Hypertelorism, Teebi type	Hypertelorism, Teebi type
Orphanet:250	Orphanet:1519	\N	"" []	Orphanet:1519	"" []	215172	\N	\N	EFO	1	EFO	Frontonasal dysplasia	Hypertelorism, Teebi type
Orphanet:330206	Orphanet:1519	\N	"" []	Orphanet:1519	"" []	215173	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Hypertelorism, Teebi type
Orphanet:93453	Orphanet:250	\N	"" []	Orphanet:1519	"" []	569309	\N	\N	EFO	2	EFO	Dysostosis with predominant craniofacial involvement	Hypertelorism, Teebi type
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1519	"" []	569310	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hypertelorism, Teebi type
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:1519	"" []	1151084	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Hypertelorism, Teebi type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1519	"" []	1151085	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypertelorism, Teebi type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1519	"" []	2033427	\N	\N	EFO	4	EFO	Rare genetic bone disease	Hypertelorism, Teebi type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1519	"" []	2033428	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Hypertelorism, Teebi type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1519	"" []	4391682	\N	\N	EFO	6	EFO	genetic disorder	Hypertelorism, Teebi type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1519	"" []	3183911	\N	\N	EFO	5	EFO	genetic disorder	Hypertelorism, Teebi type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1519	"" []	3183912	\N	\N	EFO	5	EFO	bone disease	Hypertelorism, Teebi type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1519	"" []	3183913	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hypertelorism, Teebi type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1519	"" []	5059630	\N	\N	EFO	7	EFO	disease	Hypertelorism, Teebi type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1519	"" []	4391681	\N	\N	EFO	6	EFO	skeletal system disease	Hypertelorism, Teebi type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1519	"" []	5876803	\N	\N	EFO	8	EFO	disposition	Hypertelorism, Teebi type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1519	"" []	5410713	\N	\N	EFO	7	EFO	disease	Hypertelorism, Teebi type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1519	"" []	6470012	\N	\N	EFO	9	EFO	material property	Hypertelorism, Teebi type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1519	"" []	6848305	\N	\N	EFO	10	EFO	experimental factor	Hypertelorism, Teebi type
Orphanet:1520	\N	\N	"" []	Orphanet:1520	"" []	73679	\N	\N	EFO	0	EFO	Craniofrontonasal dysplasia	Craniofrontonasal dysplasia
Orphanet:250	Orphanet:1520	\N	"" []	Orphanet:1520	"" []	215174	\N	\N	EFO	1	EFO	Frontonasal dysplasia	Craniofrontonasal dysplasia
Orphanet:364574	Orphanet:1520	\N	"" []	Orphanet:1520	"" []	215175	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Craniofrontonasal dysplasia
Orphanet:98464	Orphanet:1520	\N	"" []	Orphanet:1520	"" []	215176	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Craniofrontonasal dysplasia
Orphanet:93453	Orphanet:250	\N	"" []	Orphanet:1520	"" []	569311	\N	\N	EFO	2	EFO	Dysostosis with predominant craniofacial involvement	Craniofrontonasal dysplasia
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:1520	"" []	569312	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Craniofrontonasal dysplasia
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:1520	"" []	569313	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Craniofrontonasal dysplasia
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1520	"" []	569314	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Craniofrontonasal dysplasia
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:1520	"" []	1151086	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniofrontonasal dysplasia
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:1520	"" []	1151087	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Craniofrontonasal dysplasia
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1520	"" []	1151088	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Craniofrontonasal dysplasia
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1520	"" []	1151089	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Craniofrontonasal dysplasia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1520	"" []	1151090	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Craniofrontonasal dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1520	"" []	3183918	\N	\N	EFO	5	EFO	Rare genetic bone disease	Craniofrontonasal dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1520	"" []	3183919	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Craniofrontonasal dysplasia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1520	"" []	2033432	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Craniofrontonasal dysplasia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1520	"" []	2033433	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Craniofrontonasal dysplasia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1520	"" []	2033434	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Craniofrontonasal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1520	"" []	4133329	\N	\N	EFO	6	EFO	genetic disorder	Craniofrontonasal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1520	"" []	4133330	\N	\N	EFO	6	EFO	bone disease	Craniofrontonasal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1520	"" []	4133331	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Craniofrontonasal dysplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1520	"" []	3183920	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniofrontonasal dysplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1520	"" []	3183921	\N	\N	EFO	5	EFO	genetic disorder	Craniofrontonasal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1520	"" []	5997024	\N	\N	EFO	8	EFO	disease	Craniofrontonasal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1520	"" []	5181650	\N	\N	EFO	7	EFO	skeletal system disease	Craniofrontonasal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1520	"" []	5181651	\N	\N	EFO	7	EFO	genetic disorder	Craniofrontonasal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1520	"" []	6470013	\N	\N	EFO	9	EFO	disposition	Craniofrontonasal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1520	"" []	5997023	\N	\N	EFO	8	EFO	disease	Craniofrontonasal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1520	"" []	6848306	\N	\N	EFO	10	EFO	material property	Craniofrontonasal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1520	"" []	7068381	\N	\N	EFO	11	EFO	experimental factor	Craniofrontonasal dysplasia
Orphanet:1521	\N	\N	"" []	Orphanet:1521	"" []	73680	\N	\N	EFO	0	EFO	Craniofrontonasal dysplasia - Poland anomaly	Craniofrontonasal dysplasia - Poland anomaly
Orphanet:250	Orphanet:1521	\N	"" []	Orphanet:1521	"" []	215177	\N	\N	EFO	1	EFO	Frontonasal dysplasia	Craniofrontonasal dysplasia - Poland anomaly
Orphanet:93453	Orphanet:250	\N	"" []	Orphanet:1521	"" []	569315	\N	\N	EFO	2	EFO	Dysostosis with predominant craniofacial involvement	Craniofrontonasal dysplasia - Poland anomaly
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:1521	"" []	1151091	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniofrontonasal dysplasia - Poland anomaly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1521	"" []	2033435	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniofrontonasal dysplasia - Poland anomaly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1521	"" []	2033436	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniofrontonasal dysplasia - Poland anomaly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1521	"" []	3183922	\N	\N	EFO	5	EFO	genetic disorder	Craniofrontonasal dysplasia - Poland anomaly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1521	"" []	3183923	\N	\N	EFO	5	EFO	bone disease	Craniofrontonasal dysplasia - Poland anomaly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1521	"" []	3183924	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniofrontonasal dysplasia - Poland anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1521	"" []	5410719	\N	\N	EFO	7	EFO	disease	Craniofrontonasal dysplasia - Poland anomaly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1521	"" []	4391688	\N	\N	EFO	6	EFO	skeletal system disease	Craniofrontonasal dysplasia - Poland anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1521	"" []	4391689	\N	\N	EFO	6	EFO	genetic disorder	Craniofrontonasal dysplasia - Poland anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1521	"" []	5997025	\N	\N	EFO	8	EFO	disposition	Craniofrontonasal dysplasia - Poland anomaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1521	"" []	5410718	\N	\N	EFO	7	EFO	disease	Craniofrontonasal dysplasia - Poland anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1521	"" []	6550579	\N	\N	EFO	9	EFO	material property	Craniofrontonasal dysplasia - Poland anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1521	"" []	6889042	\N	\N	EFO	10	EFO	experimental factor	Craniofrontonasal dysplasia - Poland anomaly
Orphanet:1522	\N	\N	"" []	Orphanet:1522	"" []	73681	\N	\N	EFO	0	EFO	Craniometaphyseal dysplasia	Craniometaphyseal dysplasia
Orphanet:93444	Orphanet:1522	\N	"" []	Orphanet:1522	"" []	215178	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Craniometaphyseal dysplasia
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:1522	"" []	569316	\N	\N	EFO	2	EFO	Primary bone dysplasia	Craniometaphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1522	"" []	1151092	\N	\N	EFO	3	EFO	Rare genetic bone disease	Craniometaphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1522	"" []	1151093	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Craniometaphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1522	"" []	2033437	\N	\N	EFO	4	EFO	genetic disorder	Craniometaphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1522	"" []	2033438	\N	\N	EFO	4	EFO	bone disease	Craniometaphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1522	"" []	2033439	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniometaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1522	"" []	4391692	\N	\N	EFO	6	EFO	disease	Craniometaphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1522	"" []	3183926	\N	\N	EFO	5	EFO	skeletal system disease	Craniometaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1522	"" []	3183927	\N	\N	EFO	5	EFO	genetic disorder	Craniometaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1522	"" []	5181652	\N	\N	EFO	7	EFO	disposition	Craniometaphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1522	"" []	4391691	\N	\N	EFO	6	EFO	disease	Craniometaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1522	"" []	5997026	\N	\N	EFO	8	EFO	material property	Craniometaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1522	"" []	6550580	\N	\N	EFO	9	EFO	experimental factor	Craniometaphyseal dysplasia
Orphanet:1524	\N	\N	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	73682	\N	\N	EFO	0	EFO	Craniomicromelic syndrome	Craniomicromelic syndrome
Orphanet:139393	Orphanet:1524	\N	"" []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	215179	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniomicromelic syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	569317	\N	\N	EFO	2	EFO	Craniosynostosis	Craniomicromelic syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	1151094	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniomicromelic syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	1151095	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniomicromelic syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	2033440	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniomicromelic syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	2033441	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniomicromelic syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	2033442	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniomicromelic syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	4391695	\N	\N	EFO	6	EFO	genetic disorder	Craniomicromelic syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	3183929	\N	\N	EFO	5	EFO	genetic disorder	Craniomicromelic syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	3183930	\N	\N	EFO	5	EFO	bone disease	Craniomicromelic syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	3183931	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniomicromelic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	5181653	\N	\N	EFO	7	EFO	disease	Craniomicromelic syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	4391694	\N	\N	EFO	6	EFO	skeletal system disease	Craniomicromelic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	5997027	\N	\N	EFO	8	EFO	disposition	Craniomicromelic syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	5410722	\N	\N	EFO	7	EFO	disease	Craniomicromelic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	6550581	\N	\N	EFO	9	EFO	material property	Craniomicromelic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1524	"Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." []	6889043	\N	\N	EFO	10	EFO	experimental factor	Craniomicromelic syndrome
Orphanet:1525	\N	\N	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	73683	\N	\N	EFO	0	EFO	Cranio-osteoarthropathy	Cranio-osteoarthropathy
Orphanet:248095	Orphanet:1525	\N	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	215180	\N	\N	EFO	1	EFO	Primary hypertrophic osteoarthropathy	Cranio-osteoarthropathy
Orphanet:93444	Orphanet:248095	\N	"" []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	569318	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Cranio-osteoarthropathy
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	1151096	\N	\N	EFO	3	EFO	Primary bone dysplasia	Cranio-osteoarthropathy
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	2033443	\N	\N	EFO	4	EFO	Rare genetic bone disease	Cranio-osteoarthropathy
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	2033444	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Cranio-osteoarthropathy
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	3183932	\N	\N	EFO	5	EFO	genetic disorder	Cranio-osteoarthropathy
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	3183933	\N	\N	EFO	5	EFO	bone disease	Cranio-osteoarthropathy
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	3183934	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cranio-osteoarthropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	5410725	\N	\N	EFO	7	EFO	disease	Cranio-osteoarthropathy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	4391697	\N	\N	EFO	6	EFO	skeletal system disease	Cranio-osteoarthropathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	4391698	\N	\N	EFO	6	EFO	genetic disorder	Cranio-osteoarthropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	5997028	\N	\N	EFO	8	EFO	disposition	Cranio-osteoarthropathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	5410724	\N	\N	EFO	7	EFO	disease	Cranio-osteoarthropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	6550582	\N	\N	EFO	9	EFO	material property	Cranio-osteoarthropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1525	"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." []	6889044	\N	\N	EFO	10	EFO	experimental factor	Cranio-osteoarthropathy
Orphanet:1527	\N	\N	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	73684	\N	\N	EFO	0	EFO	Craniosynostosis, Philadelphia type	Craniosynostosis, Philadelphia type
Orphanet:139393	Orphanet:1527	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	215181	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniosynostosis, Philadelphia type
Orphanet:294959	Orphanet:1527	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	215182	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Craniosynostosis, Philadelphia type
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	569319	\N	\N	EFO	2	EFO	Craniosynostosis	Craniosynostosis, Philadelphia type
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	569320	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Craniosynostosis, Philadelphia type
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	569321	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Craniosynostosis, Philadelphia type
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	1151097	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniosynostosis, Philadelphia type
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	1151098	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniosynostosis, Philadelphia type
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	1151099	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniosynostosis, Philadelphia type
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	1151100	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Craniosynostosis, Philadelphia type
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	2033445	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis, Philadelphia type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	2033446	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniosynostosis, Philadelphia type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	2033447	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniosynostosis, Philadelphia type
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	2033448	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis, Philadelphia type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	4391701	\N	\N	EFO	6	EFO	genetic disorder	Craniosynostosis, Philadelphia type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	3183936	\N	\N	EFO	5	EFO	genetic disorder	Craniosynostosis, Philadelphia type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	3183937	\N	\N	EFO	5	EFO	bone disease	Craniosynostosis, Philadelphia type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	3183938	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis, Philadelphia type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	5181654	\N	\N	EFO	7	EFO	disease	Craniosynostosis, Philadelphia type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	4391700	\N	\N	EFO	6	EFO	skeletal system disease	Craniosynostosis, Philadelphia type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	5997029	\N	\N	EFO	8	EFO	disposition	Craniosynostosis, Philadelphia type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	5410727	\N	\N	EFO	7	EFO	disease	Craniosynostosis, Philadelphia type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	6550583	\N	\N	EFO	9	EFO	material property	Craniosynostosis, Philadelphia type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1527	"Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." []	6889045	\N	\N	EFO	10	EFO	experimental factor	Craniosynostosis, Philadelphia type
Orphanet:1528	\N	\N	"" []	Orphanet:1528	"" []	73685	\N	\N	EFO	0	EFO	Craniotelencephalic dysplasia	Craniotelencephalic dysplasia
Orphanet:102010	Orphanet:1528	\N	"" []	Orphanet:1528	"" []	215183	\N	\N	EFO	1	EFO	Other syndrome with lissencephaly as a major feature	Craniotelencephalic dysplasia
Orphanet:139393	Orphanet:1528	\N	"" []	Orphanet:1528	"" []	215184	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniotelencephalic dysplasia
Orphanet:48471	Orphanet:102010	\N	"" []	Orphanet:1528	"" []	569322	\N	\N	EFO	2	EFO	Lissencephaly	Craniotelencephalic dysplasia
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1528	"" []	569323	\N	\N	EFO	2	EFO	Craniosynostosis	Craniotelencephalic dysplasia
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:1528	"" []	1151101	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Craniotelencephalic dysplasia
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:1528	"" []	1151102	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Craniotelencephalic dysplasia
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:1528	"" []	1151103	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Craniotelencephalic dysplasia
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1528	"" []	1151104	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniotelencephalic dysplasia
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1528	"" []	1151105	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniotelencephalic dysplasia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:1528	"" []	2033449	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Craniotelencephalic dysplasia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1528	"" []	2033450	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Craniotelencephalic dysplasia
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1528	"" []	2033451	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Craniotelencephalic dysplasia
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1528	"" []	2033452	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniotelencephalic dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1528	"" []	2033453	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniotelencephalic dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1528	"" []	2033454	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniotelencephalic dysplasia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1528	"" []	3183939	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Craniotelencephalic dysplasia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1528	"" []	3183940	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Craniotelencephalic dysplasia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1528	"" []	3183941	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniotelencephalic dysplasia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1528	"" []	3183942	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Craniotelencephalic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1528	"" []	4391703	\N	\N	EFO	6	EFO	genetic disorder	Craniotelencephalic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1528	"" []	3183944	\N	\N	EFO	5	EFO	genetic disorder	Craniotelencephalic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1528	"" []	3183945	\N	\N	EFO	5	EFO	bone disease	Craniotelencephalic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1528	"" []	3183946	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniotelencephalic dysplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1528	"" []	4391702	\N	\N	EFO	6	EFO	genetic disorder	Craniotelencephalic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1528	"" []	5181655	\N	\N	EFO	7	EFO	disease	Craniotelencephalic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1528	"" []	4391705	\N	\N	EFO	6	EFO	skeletal system disease	Craniotelencephalic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1528	"" []	5997030	\N	\N	EFO	8	EFO	disposition	Craniotelencephalic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1528	"" []	5410729	\N	\N	EFO	7	EFO	disease	Craniotelencephalic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1528	"" []	6550584	\N	\N	EFO	9	EFO	material property	Craniotelencephalic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1528	"" []	6889046	\N	\N	EFO	10	EFO	experimental factor	Craniotelencephalic dysplasia
Orphanet:1529	\N	\N	"" []	Orphanet:1529	"" []	73686	\N	\N	EFO	0	EFO	Craniofacial-deafness-hand syndrome	Craniofacial-deafness-hand syndrome
Orphanet:330206	Orphanet:1529	\N	"" []	Orphanet:1529	"" []	215185	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Craniofacial-deafness-hand syndrome
Orphanet:90642	Orphanet:1529	\N	"" []	Orphanet:1529	"" []	215186	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Craniofacial-deafness-hand syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1529	"" []	569324	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Craniofacial-deafness-hand syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1529	"" []	569325	\N	\N	EFO	2	EFO	Rare genetic deafness	Craniofacial-deafness-hand syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1529	"" []	1151106	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Craniofacial-deafness-hand syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1529	"" []	1151107	\N	\N	EFO	3	EFO	genetic disorder	Craniofacial-deafness-hand syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1529	"" []	1151108	\N	\N	EFO	3	EFO	auditory system disease	Craniofacial-deafness-hand syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1529	"" []	2033455	\N	\N	EFO	4	EFO	genetic disorder	Craniofacial-deafness-hand syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1529	"" []	3183947	\N	\N	EFO	5	EFO	disease	Craniofacial-deafness-hand syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1529	"" []	2033457	\N	\N	EFO	4	EFO	sensory system disease	Craniofacial-deafness-hand syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1529	"" []	5410731	\N	\N	EFO	7	EFO	disposition	Craniofacial-deafness-hand syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1529	"" []	3183949	\N	\N	EFO	5	EFO	nervous system disease	Craniofacial-deafness-hand syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1529	"" []	5876804	\N	\N	EFO	8	EFO	material property	Craniofacial-deafness-hand syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1529	"" []	4391707	\N	\N	EFO	6	EFO	disease	Craniofacial-deafness-hand syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1529	"" []	6470014	\N	\N	EFO	9	EFO	experimental factor	Craniofacial-deafness-hand syndrome
Orphanet:1530	\N	\N	"" []	Orphanet:1530	"" []	73687	\N	\N	EFO	0	EFO	Craniosynostosis - cataract	Craniosynostosis - cataract
Orphanet:139393	Orphanet:1530	\N	"" []	Orphanet:1530	"" []	215187	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniosynostosis - cataract
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1530	"" []	569326	\N	\N	EFO	2	EFO	Craniosynostosis	Craniosynostosis - cataract
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1530	"" []	1151109	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniosynostosis - cataract
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1530	"" []	1151110	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniosynostosis - cataract
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1530	"" []	2033458	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - cataract
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1530	"" []	2033459	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniosynostosis - cataract
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1530	"" []	2033460	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniosynostosis - cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1530	"" []	4391710	\N	\N	EFO	6	EFO	genetic disorder	Craniosynostosis - cataract
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1530	"" []	3183951	\N	\N	EFO	5	EFO	genetic disorder	Craniosynostosis - cataract
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1530	"" []	3183952	\N	\N	EFO	5	EFO	bone disease	Craniosynostosis - cataract
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1530	"" []	3183953	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1530	"" []	5181657	\N	\N	EFO	7	EFO	disease	Craniosynostosis - cataract
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1530	"" []	4391709	\N	\N	EFO	6	EFO	skeletal system disease	Craniosynostosis - cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1530	"" []	5997032	\N	\N	EFO	8	EFO	disposition	Craniosynostosis - cataract
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1530	"" []	5410733	\N	\N	EFO	7	EFO	disease	Craniosynostosis - cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1530	"" []	6550585	\N	\N	EFO	9	EFO	material property	Craniosynostosis - cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1530	"" []	6889047	\N	\N	EFO	10	EFO	experimental factor	Craniosynostosis - cataract
Orphanet:1531	\N	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	73688	\N	\N	EFO	0	EFO	Craniosynostosis	Craniosynostosis
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	215188	\N	\N	EFO	1	EFO	Genetic cranial malformation	Craniosynostosis
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	215189	\N	\N	EFO	1	EFO	Dysostosis of genetic origin	Craniosynostosis
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	569327	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	569328	\N	\N	EFO	2	EFO	Rare genetic bone disease	Craniosynostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	569329	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Craniosynostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	2033463	\N	\N	EFO	4	EFO	genetic disorder	Craniosynostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	1151112	\N	\N	EFO	3	EFO	genetic disorder	Craniosynostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	1151113	\N	\N	EFO	3	EFO	bone disease	Craniosynostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	1151114	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	3000139	\N	\N	EFO	5	EFO	disease	Craniosynostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	2033462	\N	\N	EFO	4	EFO	skeletal system disease	Craniosynostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	4133333	\N	\N	EFO	6	EFO	disposition	Craniosynostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	3183955	\N	\N	EFO	5	EFO	disease	Craniosynostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	5181658	\N	\N	EFO	7	EFO	material property	Craniosynostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1531	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	5997033	\N	\N	EFO	8	EFO	experimental factor	Craniosynostosis
Orphanet:1532	\N	\N	"" []	Orphanet:1532	"" []	73689	\N	\N	EFO	0	EFO	Gmez-Lpez-Hernndez syndrome	Gmez-Lpez-Hernndez syndrome
Orphanet:183763	Orphanet:1532	\N	"" []	Orphanet:1532	"" []	215190	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Gmez-Lpez-Hernndez syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1532	"" []	569330	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Gmez-Lpez-Hernndez syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1532	"" []	1151115	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Gmez-Lpez-Hernndez syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1532	"" []	2033464	\N	\N	EFO	4	EFO	genetic disorder	Gmez-Lpez-Hernndez syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1532	"" []	3183956	\N	\N	EFO	5	EFO	disease	Gmez-Lpez-Hernndez syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1532	"" []	4391712	\N	\N	EFO	6	EFO	disposition	Gmez-Lpez-Hernndez syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1532	"" []	5410735	\N	\N	EFO	7	EFO	material property	Gmez-Lpez-Hernndez syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1532	"" []	6148312	\N	\N	EFO	8	EFO	experimental factor	Gmez-Lpez-Hernndez syndrome
Orphanet:1533	\N	\N	"" []	Orphanet:1533	"" []	73690	\N	\N	EFO	0	EFO	Craniosynostosis - fibular aplasia	Craniosynostosis - fibular aplasia
Orphanet:139393	Orphanet:1533	\N	"" []	Orphanet:1533	"" []	215191	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniosynostosis - fibular aplasia
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1533	"" []	569331	\N	\N	EFO	2	EFO	Craniosynostosis	Craniosynostosis - fibular aplasia
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1533	"" []	1151116	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniosynostosis - fibular aplasia
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1533	"" []	1151117	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniosynostosis - fibular aplasia
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1533	"" []	2033465	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - fibular aplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1533	"" []	2033466	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniosynostosis - fibular aplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1533	"" []	2033467	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniosynostosis - fibular aplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1533	"" []	4391715	\N	\N	EFO	6	EFO	genetic disorder	Craniosynostosis - fibular aplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1533	"" []	3183958	\N	\N	EFO	5	EFO	genetic disorder	Craniosynostosis - fibular aplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1533	"" []	3183959	\N	\N	EFO	5	EFO	bone disease	Craniosynostosis - fibular aplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1533	"" []	3183960	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - fibular aplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1533	"" []	5181659	\N	\N	EFO	7	EFO	disease	Craniosynostosis - fibular aplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1533	"" []	4391714	\N	\N	EFO	6	EFO	skeletal system disease	Craniosynostosis - fibular aplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1533	"" []	5997034	\N	\N	EFO	8	EFO	disposition	Craniosynostosis - fibular aplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1533	"" []	5410737	\N	\N	EFO	7	EFO	disease	Craniosynostosis - fibular aplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1533	"" []	6550586	\N	\N	EFO	9	EFO	material property	Craniosynostosis - fibular aplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1533	"" []	6889048	\N	\N	EFO	10	EFO	experimental factor	Craniosynostosis - fibular aplasia
Orphanet:1535	\N	\N	"" []	Orphanet:1535	"" []	73691	\N	\N	EFO	0	EFO	Craniosynostosis - dysmorphism - brachydactyly	Craniosynostosis - dysmorphism - brachydactyly
Orphanet:139393	Orphanet:1535	\N	"" []	Orphanet:1535	"" []	215192	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniosynostosis - dysmorphism - brachydactyly
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1535	"" []	569332	\N	\N	EFO	2	EFO	Craniosynostosis	Craniosynostosis - dysmorphism - brachydactyly
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1535	"" []	1151118	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniosynostosis - dysmorphism - brachydactyly
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1535	"" []	1151119	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniosynostosis - dysmorphism - brachydactyly
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1535	"" []	2033468	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - dysmorphism - brachydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1535	"" []	2033469	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniosynostosis - dysmorphism - brachydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1535	"" []	2033470	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniosynostosis - dysmorphism - brachydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1535	"" []	4391718	\N	\N	EFO	6	EFO	genetic disorder	Craniosynostosis - dysmorphism - brachydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1535	"" []	3183962	\N	\N	EFO	5	EFO	genetic disorder	Craniosynostosis - dysmorphism - brachydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1535	"" []	3183963	\N	\N	EFO	5	EFO	bone disease	Craniosynostosis - dysmorphism - brachydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1535	"" []	3183964	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - dysmorphism - brachydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1535	"" []	5181660	\N	\N	EFO	7	EFO	disease	Craniosynostosis - dysmorphism - brachydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1535	"" []	4391717	\N	\N	EFO	6	EFO	skeletal system disease	Craniosynostosis - dysmorphism - brachydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1535	"" []	5997035	\N	\N	EFO	8	EFO	disposition	Craniosynostosis - dysmorphism - brachydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1535	"" []	5410739	\N	\N	EFO	7	EFO	disease	Craniosynostosis - dysmorphism - brachydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1535	"" []	6550587	\N	\N	EFO	9	EFO	material property	Craniosynostosis - dysmorphism - brachydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1535	"" []	6889049	\N	\N	EFO	10	EFO	experimental factor	Craniosynostosis - dysmorphism - brachydactyly
Orphanet:1538	\N	\N	"" []	Orphanet:1538	"" []	73692	\N	\N	EFO	0	EFO	Craniosynostosis - Dandy-Walker malformation - hydrocephalus	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:169163	Orphanet:1538	\N	"" []	Orphanet:1538	"" []	215193	\N	\N	EFO	1	EFO	Familial scaphocephaly syndrome	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:269570	Orphanet:1538	\N	"" []	Orphanet:1538	"" []	215194	\N	\N	EFO	1	EFO	Genetic syndrome with a Dandy-Walker malformation as major feature	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:139393	Orphanet:169163	\N	"" []	Orphanet:1538	"" []	569333	\N	\N	EFO	2	EFO	Syndromic craniosynostosis	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:269567	Orphanet:269570	\N	"" []	Orphanet:1538	"" []	569334	\N	\N	EFO	2	EFO	Genetic syndrome with a cerebellar malformation as major feature	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1538	"" []	1151120	\N	\N	EFO	3	EFO	Craniosynostosis	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:1538	"" []	1151121	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1538	"" []	2033471	\N	\N	EFO	4	EFO	Genetic cranial malformation	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1538	"" []	2033472	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1538	"" []	2033473	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1538	"" []	3183965	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1538	"" []	3183966	\N	\N	EFO	5	EFO	Rare genetic bone disease	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1538	"" []	3183967	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1538	"" []	3183968	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1538	"" []	3183969	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1538	"" []	5410742	\N	\N	EFO	7	EFO	genetic disorder	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1538	"" []	4391720	\N	\N	EFO	6	EFO	genetic disorder	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1538	"" []	4391721	\N	\N	EFO	6	EFO	bone disease	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1538	"" []	4391722	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1538	"" []	4391723	\N	\N	EFO	6	EFO	genetic disorder	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1538	"" []	5997036	\N	\N	EFO	8	EFO	disease	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1538	"" []	5410741	\N	\N	EFO	7	EFO	skeletal system disease	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1538	"" []	6550588	\N	\N	EFO	9	EFO	disposition	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1538	"" []	6148316	\N	\N	EFO	8	EFO	disease	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1538	"" []	6889050	\N	\N	EFO	10	EFO	material property	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1538	"" []	7085902	\N	\N	EFO	11	EFO	experimental factor	Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Orphanet:154	\N	\N	"" []	Orphanet:154	"" []	73693	\N	\N	EFO	0	EFO	Familial isolated dilated cardiomyopathy	Familial isolated dilated cardiomyopathy
Orphanet:207085	Orphanet:154	\N	"" []	Orphanet:154	"" []	215195	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of dystrophin	Familial isolated dilated cardiomyopathy
Orphanet:217607	Orphanet:154	\N	"" []	Orphanet:154	"" []	215196	\N	\N	EFO	1	EFO	Familial dilated cardiomyopathy	Familial isolated dilated cardiomyopathy
Orphanet:207049	Orphanet:207085	\N	"" []	Orphanet:154	"" []	569335	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Familial isolated dilated cardiomyopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:154	"" []	569336	\N	\N	EFO	2	EFO	cardiomyopathy	Familial isolated dilated cardiomyopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:154	"" []	569337	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Familial isolated dilated cardiomyopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:154	"" []	1151122	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Familial isolated dilated cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:154	"" []	1151123	\N	\N	EFO	3	EFO	heart disease	Familial isolated dilated cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:154	"" []	1151124	\N	\N	EFO	3	EFO	genetic disorder	Familial isolated dilated cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:154	"" []	1151125	\N	\N	EFO	3	EFO	heart disease	Familial isolated dilated cardiomyopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:154	"" []	2033474	\N	\N	EFO	4	EFO	muscular disease	Familial isolated dilated cardiomyopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:154	"" []	2033475	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Familial isolated dilated cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:154	"" []	2033476	\N	\N	EFO	4	EFO	cardiovascular disease	Familial isolated dilated cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:154	"" []	4391725	\N	\N	EFO	6	EFO	disease	Familial isolated dilated cardiomyopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:154	"" []	3183970	\N	\N	EFO	5	EFO	skeletal system disease	Familial isolated dilated cardiomyopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:154	"" []	3183971	\N	\N	EFO	5	EFO	genetic disorder	Familial isolated dilated cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:154	"" []	3183972	\N	\N	EFO	5	EFO	disease	Familial isolated dilated cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:154	"" []	5059631	\N	\N	EFO	7	EFO	disposition	Familial isolated dilated cardiomyopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:154	"" []	4391724	\N	\N	EFO	6	EFO	disease	Familial isolated dilated cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:154	"" []	5876805	\N	\N	EFO	8	EFO	material property	Familial isolated dilated cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:154	"" []	6470015	\N	\N	EFO	9	EFO	experimental factor	Familial isolated dilated cardiomyopathy
Orphanet:1540	\N	\N	"" []	Orphanet:1540	"" []	73694	\N	\N	EFO	0	EFO	Jackson-Weiss syndrome	Jackson-Weiss syndrome
Orphanet:139393	Orphanet:1540	\N	"" []	Orphanet:1540	"" []	215197	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Jackson-Weiss syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1540	"" []	569338	\N	\N	EFO	2	EFO	Craniosynostosis	Jackson-Weiss syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1540	"" []	1151126	\N	\N	EFO	3	EFO	Genetic cranial malformation	Jackson-Weiss syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1540	"" []	1151127	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Jackson-Weiss syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1540	"" []	2033478	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Jackson-Weiss syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1540	"" []	2033479	\N	\N	EFO	4	EFO	Rare genetic bone disease	Jackson-Weiss syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1540	"" []	2033480	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Jackson-Weiss syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1540	"" []	4391730	\N	\N	EFO	6	EFO	genetic disorder	Jackson-Weiss syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1540	"" []	3183975	\N	\N	EFO	5	EFO	genetic disorder	Jackson-Weiss syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1540	"" []	3183976	\N	\N	EFO	5	EFO	bone disease	Jackson-Weiss syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1540	"" []	3183977	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Jackson-Weiss syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1540	"" []	5181662	\N	\N	EFO	7	EFO	disease	Jackson-Weiss syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1540	"" []	4391729	\N	\N	EFO	6	EFO	skeletal system disease	Jackson-Weiss syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1540	"" []	5997038	\N	\N	EFO	8	EFO	disposition	Jackson-Weiss syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1540	"" []	5410745	\N	\N	EFO	7	EFO	disease	Jackson-Weiss syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1540	"" []	6550589	\N	\N	EFO	9	EFO	material property	Jackson-Weiss syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1540	"" []	6889051	\N	\N	EFO	10	EFO	experimental factor	Jackson-Weiss syndrome
Orphanet:1541	\N	\N	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	73695	\N	\N	EFO	0	EFO	Craniosynostosis, Boston type	Craniosynostosis, Boston type
Orphanet:139393	Orphanet:1541	\N	"" []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	215198	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniosynostosis, Boston type
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	569339	\N	\N	EFO	2	EFO	Craniosynostosis	Craniosynostosis, Boston type
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	1151128	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniosynostosis, Boston type
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	1151129	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniosynostosis, Boston type
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	2033481	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis, Boston type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	2033482	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniosynostosis, Boston type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	2033483	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniosynostosis, Boston type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	4391733	\N	\N	EFO	6	EFO	genetic disorder	Craniosynostosis, Boston type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	3183979	\N	\N	EFO	5	EFO	genetic disorder	Craniosynostosis, Boston type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	3183980	\N	\N	EFO	5	EFO	bone disease	Craniosynostosis, Boston type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	3183981	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis, Boston type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	5181663	\N	\N	EFO	7	EFO	disease	Craniosynostosis, Boston type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	4391732	\N	\N	EFO	6	EFO	skeletal system disease	Craniosynostosis, Boston type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	5997039	\N	\N	EFO	8	EFO	disposition	Craniosynostosis, Boston type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	5410747	\N	\N	EFO	7	EFO	disease	Craniosynostosis, Boston type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	6550590	\N	\N	EFO	9	EFO	material property	Craniosynostosis, Boston type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1541	"Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." []	6889052	\N	\N	EFO	10	EFO	experimental factor	Craniosynostosis, Boston type
Orphanet:1545	\N	\N	"" []	Orphanet:1545	"" []	73696	\N	\N	EFO	0	EFO	Crisponi syndrome	Crisponi syndrome
Orphanet:401993	Orphanet:1545	\N	"" []	Orphanet:1545	"" []	215199	\N	\N	EFO	1	EFO	Cold-induced sweating syndrome-hyperthermia spectrum	Crisponi syndrome
Orphanet:140477	Orphanet:401993	\N	"" []	Orphanet:1545	"" []	569340	\N	\N	EFO	2	EFO	Autosomal recessive hereditary sensory and autonomic neuropathy	Crisponi syndrome
Orphanet:140471	Orphanet:140477	\N	"" []	Orphanet:1545	"" []	1151130	\N	\N	EFO	3	EFO	Hereditary sensory and autonomic neuropathy	Crisponi syndrome
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:1545	"" []	2033484	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Crisponi syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:1545	"" []	3183982	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Crisponi syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1545	"" []	4391734	\N	\N	EFO	6	EFO	genetic disorder	Crisponi syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1545	"" []	5410748	\N	\N	EFO	7	EFO	disease	Crisponi syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1545	"" []	6148319	\N	\N	EFO	8	EFO	disposition	Crisponi syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1545	"" []	6632153	\N	\N	EFO	9	EFO	material property	Crisponi syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1545	"" []	6925412	\N	\N	EFO	10	EFO	experimental factor	Crisponi syndrome
Orphanet:1547	\N	\N	"Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." []	Orphanet:1547	"Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." []	73697	\N	\N	EFO	0	EFO	Cryptomicrotia - brachydactyly - excess fingertip arch	Cryptomicrotia - brachydactyly - excess fingertip arch
Orphanet:330206	Orphanet:1547	\N	"" []	Orphanet:1547	"Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." []	215200	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Cryptomicrotia - brachydactyly - excess fingertip arch
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1547	"Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." []	569341	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cryptomicrotia - brachydactyly - excess fingertip arch
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1547	"Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." []	1151131	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cryptomicrotia - brachydactyly - excess fingertip arch
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1547	"Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." []	2033485	\N	\N	EFO	4	EFO	genetic disorder	Cryptomicrotia - brachydactyly - excess fingertip arch
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1547	"Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." []	3183983	\N	\N	EFO	5	EFO	disease	Cryptomicrotia - brachydactyly - excess fingertip arch
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1547	"Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." []	4391735	\N	\N	EFO	6	EFO	disposition	Cryptomicrotia - brachydactyly - excess fingertip arch
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1547	"Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." []	5410749	\N	\N	EFO	7	EFO	material property	Cryptomicrotia - brachydactyly - excess fingertip arch
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1547	"Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." []	6148320	\N	\N	EFO	8	EFO	experimental factor	Cryptomicrotia - brachydactyly - excess fingertip arch
Orphanet:1548	\N	\N	"" []	Orphanet:1548	"" []	73698	\N	\N	EFO	0	EFO	Cryptorchidism - arachnodactyly - intellectual disability	Cryptorchidism - arachnodactyly - intellectual disability
Orphanet:102283	Orphanet:1548	\N	"" []	Orphanet:1548	"" []	215201	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cryptorchidism - arachnodactyly - intellectual disability
Orphanet:183763	Orphanet:1548	\N	"" []	Orphanet:1548	"" []	215202	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cryptorchidism - arachnodactyly - intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1548	"" []	569342	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cryptorchidism - arachnodactyly - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1548	"" []	569343	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cryptorchidism - arachnodactyly - intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1548	"" []	1151132	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cryptorchidism - arachnodactyly - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1548	"" []	1151133	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cryptorchidism - arachnodactyly - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1548	"" []	2033486	\N	\N	EFO	4	EFO	genetic disorder	Cryptorchidism - arachnodactyly - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1548	"" []	2033487	\N	\N	EFO	4	EFO	genetic disorder	Cryptorchidism - arachnodactyly - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1548	"" []	3183984	\N	\N	EFO	5	EFO	disease	Cryptorchidism - arachnodactyly - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1548	"" []	4391736	\N	\N	EFO	6	EFO	disposition	Cryptorchidism - arachnodactyly - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1548	"" []	5410750	\N	\N	EFO	7	EFO	material property	Cryptorchidism - arachnodactyly - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1548	"" []	6148321	\N	\N	EFO	8	EFO	experimental factor	Cryptorchidism - arachnodactyly - intellectual disability
Orphanet:1551	\N	\N	"" []	Orphanet:1551	"" []	73699	\N	\N	EFO	0	EFO	Familial benign copper deficiency	Familial benign copper deficiency
Orphanet:309839	Orphanet:1551	\N	"" []	Orphanet:1551	"" []	215203	\N	\N	EFO	1	EFO	Disorder of copper metabolism	Familial benign copper deficiency
Orphanet:309836	Orphanet:309839	\N	"" []	Orphanet:1551	"" []	569344	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Familial benign copper deficiency
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:1551	"" []	1151134	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Familial benign copper deficiency
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:1551	"" []	2033488	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Familial benign copper deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1551	"" []	3183985	\N	\N	EFO	5	EFO	genetic disorder	Familial benign copper deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1551	"" []	3183986	\N	\N	EFO	5	EFO	metabolic disease	Familial benign copper deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1551	"" []	4391737	\N	\N	EFO	6	EFO	disease	Familial benign copper deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1551	"" []	4391738	\N	\N	EFO	6	EFO	disease	Familial benign copper deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1551	"" []	5410751	\N	\N	EFO	7	EFO	disposition	Familial benign copper deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1551	"" []	6148322	\N	\N	EFO	8	EFO	material property	Familial benign copper deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1551	"" []	6632154	\N	\N	EFO	9	EFO	experimental factor	Familial benign copper deficiency
Orphanet:1552	\N	\N	"" []	Orphanet:1552	"" []	73700	\N	\N	EFO	0	EFO	Currarino triad	Currarino triad
Orphanet:117573	Orphanet:1552	\N	"" []	Orphanet:1552	"" []	215204	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Currarino triad
Orphanet:93454	Orphanet:1552	\N	"" []	Orphanet:1552	"" []	215205	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Currarino triad
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:1552	"" []	569345	\N	\N	EFO	2	EFO	Anorectal malformation	Currarino triad
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:1552	"" []	569346	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Currarino triad
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:1552	"" []	1151135	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Currarino triad
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1552	"" []	1151136	\N	\N	EFO	3	EFO	Rare genetic bone disease	Currarino triad
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1552	"" []	1151137	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Currarino triad
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1552	"" []	2033489	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Currarino triad
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1552	"" []	2033490	\N	\N	EFO	4	EFO	genetic disorder	Currarino triad
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1552	"" []	2033491	\N	\N	EFO	4	EFO	bone disease	Currarino triad
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1552	"" []	2033492	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Currarino triad
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1552	"" []	3183987	\N	\N	EFO	5	EFO	genetic disorder	Currarino triad
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1552	"" []	4391739	\N	\N	EFO	6	EFO	disease	Currarino triad
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1552	"" []	3183989	\N	\N	EFO	5	EFO	skeletal system disease	Currarino triad
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1552	"" []	5181664	\N	\N	EFO	7	EFO	disposition	Currarino triad
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1552	"" []	4391741	\N	\N	EFO	6	EFO	disease	Currarino triad
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1552	"" []	5997040	\N	\N	EFO	8	EFO	material property	Currarino triad
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1552	"" []	6550591	\N	\N	EFO	9	EFO	experimental factor	Currarino triad
Orphanet:1553	\N	\N	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	73701	\N	\N	EFO	0	EFO	Curry-Jones syndrome	Curry-Jones syndrome
Orphanet:139393	Orphanet:1553	\N	"" []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	215206	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Curry-Jones syndrome
Orphanet:330197	Orphanet:1553	\N	"" []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	215207	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Curry-Jones syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	569347	\N	\N	EFO	2	EFO	Craniosynostosis	Curry-Jones syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	569348	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Curry-Jones syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	1151138	\N	\N	EFO	3	EFO	Genetic cranial malformation	Curry-Jones syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	1151139	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Curry-Jones syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	1151140	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Curry-Jones syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	2033493	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Curry-Jones syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	2033494	\N	\N	EFO	4	EFO	Rare genetic bone disease	Curry-Jones syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	2033495	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Curry-Jones syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	4391743	\N	\N	EFO	6	EFO	genetic disorder	Curry-Jones syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	3183991	\N	\N	EFO	5	EFO	genetic disorder	Curry-Jones syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	3183992	\N	\N	EFO	5	EFO	bone disease	Curry-Jones syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	3183993	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Curry-Jones syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	5059632	\N	\N	EFO	7	EFO	disease	Curry-Jones syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	4391742	\N	\N	EFO	6	EFO	skeletal system disease	Curry-Jones syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	5876806	\N	\N	EFO	8	EFO	disposition	Curry-Jones syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	5410753	\N	\N	EFO	7	EFO	disease	Curry-Jones syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	6470016	\N	\N	EFO	9	EFO	material property	Curry-Jones syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1553	"Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." []	6848307	\N	\N	EFO	10	EFO	experimental factor	Curry-Jones syndrome
Orphanet:1555	\N	\N	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	73702	\N	\N	EFO	0	EFO	Cutis gyrata - acanthosis nigricans - craniosynostosis	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:139393	Orphanet:1555	\N	"" []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	215208	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:183472	Orphanet:1555	\N	"" []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	215209	\N	\N	EFO	1	EFO	Genetic dermis disorder	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:330206	Orphanet:1555	\N	"" []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	215210	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	569349	\N	\N	EFO	2	EFO	Craniosynostosis	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	569350	\N	\N	EFO	2	EFO	Rare genetic skin disease	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	569351	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	1151141	\N	\N	EFO	3	EFO	Genetic cranial malformation	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	1151142	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Cutis gyrata - acanthosis nigricans - craniosynostosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	1151143	\N	\N	EFO	3	EFO	genetic disorder	Cutis gyrata - acanthosis nigricans - craniosynostosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	1151144	\N	\N	EFO	3	EFO	skin disease	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	1151145	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	2033497	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	2033498	\N	\N	EFO	4	EFO	Rare genetic bone disease	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	2033499	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Cutis gyrata - acanthosis nigricans - craniosynostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	5059634	\N	\N	EFO	7	EFO	disease	Cutis gyrata - acanthosis nigricans - craniosynostosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	2033501	\N	\N	EFO	4	EFO	disease	Cutis gyrata - acanthosis nigricans - craniosynostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	4391746	\N	\N	EFO	6	EFO	genetic disorder	Cutis gyrata - acanthosis nigricans - craniosynostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	3183996	\N	\N	EFO	5	EFO	genetic disorder	Cutis gyrata - acanthosis nigricans - craniosynostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	3183997	\N	\N	EFO	5	EFO	bone disease	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	3183998	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cutis gyrata - acanthosis nigricans - craniosynostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	5817494	\N	\N	EFO	8	EFO	disposition	Cutis gyrata - acanthosis nigricans - craniosynostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	4391745	\N	\N	EFO	6	EFO	skeletal system disease	Cutis gyrata - acanthosis nigricans - craniosynostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	6409855	\N	\N	EFO	9	EFO	material property	Cutis gyrata - acanthosis nigricans - craniosynostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	5410755	\N	\N	EFO	7	EFO	disease	Cutis gyrata - acanthosis nigricans - craniosynostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1555	"Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." []	6807708	\N	\N	EFO	10	EFO	experimental factor	Cutis gyrata - acanthosis nigricans - craniosynostosis
Orphanet:155884	\N	\N	"" []	Orphanet:155884	"" []	73703	\N	\N	EFO	0	EFO	Coloboma of superior eyelid	Coloboma of superior eyelid
Orphanet:141253	Orphanet:155884	\N	"" []	Orphanet:155884	"" []	215211	\N	\N	EFO	1	EFO	Oblique facial cleft	Coloboma of superior eyelid
Orphanet:183583	Orphanet:141253	\N	"" []	Orphanet:155884	"" []	569352	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Coloboma of superior eyelid
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:155884	"" []	1151146	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Coloboma of superior eyelid
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:155884	"" []	2033503	\N	\N	EFO	4	EFO	genetic disorder	Coloboma of superior eyelid
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:155884	"" []	3184001	\N	\N	EFO	5	EFO	disease	Coloboma of superior eyelid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:155884	"" []	4391748	\N	\N	EFO	6	EFO	disposition	Coloboma of superior eyelid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:155884	"" []	5410757	\N	\N	EFO	7	EFO	material property	Coloboma of superior eyelid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:155884	"" []	6148325	\N	\N	EFO	8	EFO	experimental factor	Coloboma of superior eyelid
Orphanet:155889	\N	\N	"" []	Orphanet:155889	"" []	73704	\N	\N	EFO	0	EFO	Coloboma of inferior eyelid	Coloboma of inferior eyelid
Orphanet:141253	Orphanet:155889	\N	"" []	Orphanet:155889	"" []	215212	\N	\N	EFO	1	EFO	Oblique facial cleft	Coloboma of inferior eyelid
Orphanet:183583	Orphanet:141253	\N	"" []	Orphanet:155889	"" []	569353	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Coloboma of inferior eyelid
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:155889	"" []	1151147	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Coloboma of inferior eyelid
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:155889	"" []	2033504	\N	\N	EFO	4	EFO	genetic disorder	Coloboma of inferior eyelid
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:155889	"" []	3184002	\N	\N	EFO	5	EFO	disease	Coloboma of inferior eyelid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:155889	"" []	4391749	\N	\N	EFO	6	EFO	disposition	Coloboma of inferior eyelid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:155889	"" []	5410758	\N	\N	EFO	7	EFO	material property	Coloboma of inferior eyelid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:155889	"" []	6148326	\N	\N	EFO	8	EFO	experimental factor	Coloboma of inferior eyelid
Orphanet:155896	\N	\N	"" []	Orphanet:155896	"" []	73705	\N	\N	EFO	0	EFO	Otomandibular dysplasia	Otomandibular dysplasia
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:155896	"" []	215213	\N	\N	EFO	1	EFO	Rare otorhinolaryngological malformation	Otomandibular dysplasia
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:155896	"" []	569354	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Otomandibular dysplasia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:155896	"" []	1151148	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Otomandibular dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:155896	"" []	2033505	\N	\N	EFO	4	EFO	genetic disorder	Otomandibular dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:155896	"" []	3184003	\N	\N	EFO	5	EFO	disease	Otomandibular dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:155896	"" []	4391750	\N	\N	EFO	6	EFO	disposition	Otomandibular dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:155896	"" []	5410759	\N	\N	EFO	7	EFO	material property	Otomandibular dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:155896	"" []	6148327	\N	\N	EFO	8	EFO	experimental factor	Otomandibular dysplasia
Orphanet:155899	\N	\N	"" []	Orphanet:155899	"" []	73706	\N	\N	EFO	0	EFO	Mandibulofacial dysostosis	Mandibulofacial dysostosis
Orphanet:155896	Orphanet:155899	\N	"" []	Orphanet:155899	"" []	215214	\N	\N	EFO	1	EFO	Otomandibular dysplasia	Mandibulofacial dysostosis
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:155899	"" []	569355	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Mandibulofacial dysostosis
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:155899	"" []	1151149	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Mandibulofacial dysostosis
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:155899	"" []	2033506	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mandibulofacial dysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:155899	"" []	3184004	\N	\N	EFO	5	EFO	genetic disorder	Mandibulofacial dysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:155899	"" []	4391751	\N	\N	EFO	6	EFO	disease	Mandibulofacial dysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:155899	"" []	5410760	\N	\N	EFO	7	EFO	disposition	Mandibulofacial dysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:155899	"" []	6148328	\N	\N	EFO	8	EFO	material property	Mandibulofacial dysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:155899	"" []	6632155	\N	\N	EFO	9	EFO	experimental factor	Mandibulofacial dysostosis
Orphanet:156	\N	\N	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	Orphanet:156	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	73707	\N	\N	EFO	0	EFO	Carnitine palmitoyl transferase 1A deficiency	Carnitine palmitoyl transferase 1A deficiency
Orphanet:309130	Orphanet:156	\N	"" []	Orphanet:156	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	215215	\N	\N	EFO	1	EFO	Disorder of carnitine cycle and carnitine transport	Carnitine palmitoyl transferase 1A deficiency
Orphanet:79174	Orphanet:309130	\N	"" []	Orphanet:156	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	569356	\N	\N	EFO	2	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Carnitine palmitoyl transferase 1A deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:156	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	1151150	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Carnitine palmitoyl transferase 1A deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:156	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	2033507	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Carnitine palmitoyl transferase 1A deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	3184005	\N	\N	EFO	5	EFO	genetic disorder	Carnitine palmitoyl transferase 1A deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:156	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	3184006	\N	\N	EFO	5	EFO	metabolic disease	Carnitine palmitoyl transferase 1A deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	4391752	\N	\N	EFO	6	EFO	disease	Carnitine palmitoyl transferase 1A deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	4391753	\N	\N	EFO	6	EFO	disease	Carnitine palmitoyl transferase 1A deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	5410761	\N	\N	EFO	7	EFO	disposition	Carnitine palmitoyl transferase 1A deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	6148329	\N	\N	EFO	8	EFO	material property	Carnitine palmitoyl transferase 1A deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156	"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." []	6632156	\N	\N	EFO	9	EFO	experimental factor	Carnitine palmitoyl transferase 1A deficiency
Orphanet:156005	\N	\N	"" []	Orphanet:156005	"" []	73708	\N	\N	EFO	0	EFO	Primary glaucoma	Primary glaucoma
Orphanet:359	Orphanet:156005	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:156005	"" []	215216	\N	\N	EFO	1	EFO	Hereditary glaucoma	Primary glaucoma
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:156005	"" []	569357	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Primary glaucoma
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:156005	"" []	1151151	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Primary glaucoma
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:156005	"" []	2033508	\N	\N	EFO	4	EFO	Rare genetic eye disease	Primary glaucoma
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:156005	"" []	2033509	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Primary glaucoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156005	"" []	3184007	\N	\N	EFO	5	EFO	genetic disorder	Primary glaucoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:156005	"" []	3184008	\N	\N	EFO	5	EFO	eye disease	Primary glaucoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156005	"" []	3184009	\N	\N	EFO	5	EFO	genetic disorder	Primary glaucoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156005	"" []	4391754	\N	\N	EFO	6	EFO	disease	Primary glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156005	"" []	4391755	\N	\N	EFO	6	EFO	disease	Primary glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156005	"" []	5410762	\N	\N	EFO	7	EFO	disposition	Primary glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156005	"" []	6148330	\N	\N	EFO	8	EFO	material property	Primary glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156005	"" []	6632157	\N	\N	EFO	9	EFO	experimental factor	Primary glaucoma
Orphanet:156071	\N	\N	"" []	Orphanet:156071	"" []	73709	\N	\N	EFO	0	EFO	Keratoconus	Keratoconus
Orphanet:101435	Orphanet:156071	\N	"" []	Orphanet:156071	"" []	215217	\N	\N	EFO	1	EFO	Rare genetic eye disease	Keratoconus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156071	"" []	569358	\N	\N	EFO	2	EFO	genetic disorder	Keratoconus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:156071	"" []	569359	\N	\N	EFO	2	EFO	eye disease	Keratoconus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156071	"" []	1151152	\N	\N	EFO	3	EFO	disease	Keratoconus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156071	"" []	1151153	\N	\N	EFO	3	EFO	disease	Keratoconus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156071	"" []	2033510	\N	\N	EFO	4	EFO	disposition	Keratoconus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156071	"" []	3184010	\N	\N	EFO	5	EFO	material property	Keratoconus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156071	"" []	4391756	\N	\N	EFO	6	EFO	experimental factor	Keratoconus
Orphanet:1561	\N	\N	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	73710	\N	\N	EFO	0	EFO	Fatal infantile cytochrome C oxidase deficiency	Fatal infantile cytochrome C oxidase deficiency
Orphanet:2443	Orphanet:1561	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	215218	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Fatal infantile cytochrome C oxidase deficiency
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	569360	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Fatal infantile cytochrome C oxidase deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	1151154	\N	\N	EFO	3	EFO	Mitochondrial disease	Fatal infantile cytochrome C oxidase deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	2033511	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Fatal infantile cytochrome C oxidase deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	2033512	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Fatal infantile cytochrome C oxidase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	3184011	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Fatal infantile cytochrome C oxidase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	3184012	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Fatal infantile cytochrome C oxidase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	4391757	\N	\N	EFO	6	EFO	genetic disorder	Fatal infantile cytochrome C oxidase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	4391758	\N	\N	EFO	6	EFO	genetic disorder	Fatal infantile cytochrome C oxidase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	4391759	\N	\N	EFO	6	EFO	metabolic disease	Fatal infantile cytochrome C oxidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	5410763	\N	\N	EFO	7	EFO	disease	Fatal infantile cytochrome C oxidase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	5410764	\N	\N	EFO	7	EFO	disease	Fatal infantile cytochrome C oxidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	6148331	\N	\N	EFO	8	EFO	disposition	Fatal infantile cytochrome C oxidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	6632158	\N	\N	EFO	9	EFO	material property	Fatal infantile cytochrome C oxidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1561	"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." []	6925413	\N	\N	EFO	10	EFO	experimental factor	Fatal infantile cytochrome C oxidase deficiency
Orphanet:156156	\N	\N	"" []	Orphanet:156156	"" []	73711	\N	\N	EFO	0	EFO	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Orphanet:98305	Orphanet:156156	\N	"" []	Orphanet:156156	"" []	215219	\N	\N	EFO	1	EFO	Genetic lipodystrophy	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:156156	"" []	569361	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:156156	"" []	569362	\N	\N	EFO	2	EFO	Primary lipodystrophy	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156156	"" []	1151155	\N	\N	EFO	3	EFO	genetic disorder	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:156156	"" []	1151156	\N	\N	EFO	3	EFO	endocrine system disease	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:156156	"" []	1151157	\N	\N	EFO	3	EFO	Genetic subcutaneous tissue disorder	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156156	"" []	4391761	\N	\N	EFO	6	EFO	disease	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156156	"" []	2033514	\N	\N	EFO	4	EFO	disease	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:156156	"" []	2033515	\N	\N	EFO	4	EFO	Rare genetic skin disease	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156156	"" []	5059635	\N	\N	EFO	7	EFO	disposition	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156156	"" []	3184014	\N	\N	EFO	5	EFO	genetic disorder	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:156156	"" []	3184015	\N	\N	EFO	5	EFO	skin disease	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156156	"" []	5876808	\N	\N	EFO	8	EFO	material property	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156156	"" []	4391762	\N	\N	EFO	6	EFO	disease	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156156	"" []	6470018	\N	\N	EFO	9	EFO	experimental factor	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Orphanet:156159	\N	\N	"" []	Orphanet:156159	"" []	73712	\N	\N	EFO	0	EFO	Isolated dystonia	Isolated dystonia
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:156159	"" []	215220	\N	\N	EFO	1	EFO	Rare genetic dystonia	Isolated dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:156159	"" []	569363	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Isolated dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:156159	"" []	1151158	\N	\N	EFO	3	EFO	movement disorder	Isolated dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:156159	"" []	1151159	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Isolated dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:156159	"" []	2033516	\N	\N	EFO	4	EFO	nervous system disease	Isolated dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156159	"" []	2033517	\N	\N	EFO	4	EFO	genetic disorder	Isolated dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156159	"" []	3184016	\N	\N	EFO	5	EFO	disease	Isolated dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156159	"" []	3184017	\N	\N	EFO	5	EFO	disease	Isolated dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156159	"" []	4391763	\N	\N	EFO	6	EFO	disposition	Isolated dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156159	"" []	5410766	\N	\N	EFO	7	EFO	material property	Isolated dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156159	"" []	6148332	\N	\N	EFO	8	EFO	experimental factor	Isolated dystonia
Orphanet:1562	\N	\N	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	73713	\N	\N	EFO	0	EFO	Dacryocystitis - osteopoikilosis	Dacryocystitis - osteopoikilosis
Orphanet:93444	Orphanet:1562	\N	"" []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	215221	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Dacryocystitis - osteopoikilosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	569364	\N	\N	EFO	2	EFO	Primary bone dysplasia	Dacryocystitis - osteopoikilosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	1151160	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dacryocystitis - osteopoikilosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	1151161	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dacryocystitis - osteopoikilosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	2033518	\N	\N	EFO	4	EFO	genetic disorder	Dacryocystitis - osteopoikilosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	2033519	\N	\N	EFO	4	EFO	bone disease	Dacryocystitis - osteopoikilosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	2033520	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dacryocystitis - osteopoikilosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	4391766	\N	\N	EFO	6	EFO	disease	Dacryocystitis - osteopoikilosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	3184019	\N	\N	EFO	5	EFO	skeletal system disease	Dacryocystitis - osteopoikilosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	3184020	\N	\N	EFO	5	EFO	genetic disorder	Dacryocystitis - osteopoikilosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	5181667	\N	\N	EFO	7	EFO	disposition	Dacryocystitis - osteopoikilosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	4391765	\N	\N	EFO	6	EFO	disease	Dacryocystitis - osteopoikilosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	5997043	\N	\N	EFO	8	EFO	material property	Dacryocystitis - osteopoikilosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1562	"Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." []	6550593	\N	\N	EFO	9	EFO	experimental factor	Dacryocystitis - osteopoikilosis
Orphanet:156202	\N	\N	"" []	Orphanet:156202	"" []	73714	\N	\N	EFO	0	EFO	Otomandibular dysplasia associated with monogenic syndromes	Otomandibular dysplasia associated with monogenic syndromes
Orphanet:155896	Orphanet:156202	\N	"" []	Orphanet:156202	"" []	215222	\N	\N	EFO	1	EFO	Otomandibular dysplasia	Otomandibular dysplasia associated with monogenic syndromes
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:156202	"" []	569365	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Otomandibular dysplasia associated with monogenic syndromes
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:156202	"" []	1151162	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Otomandibular dysplasia associated with monogenic syndromes
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:156202	"" []	2033521	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Otomandibular dysplasia associated with monogenic syndromes
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156202	"" []	3184021	\N	\N	EFO	5	EFO	genetic disorder	Otomandibular dysplasia associated with monogenic syndromes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156202	"" []	4391767	\N	\N	EFO	6	EFO	disease	Otomandibular dysplasia associated with monogenic syndromes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156202	"" []	5410768	\N	\N	EFO	7	EFO	disposition	Otomandibular dysplasia associated with monogenic syndromes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156202	"" []	6148334	\N	\N	EFO	8	EFO	material property	Otomandibular dysplasia associated with monogenic syndromes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156202	"" []	6632159	\N	\N	EFO	9	EFO	experimental factor	Otomandibular dysplasia associated with monogenic syndromes
Orphanet:156207	\N	\N	"" []	Orphanet:156207	"" []	73715	\N	\N	EFO	0	EFO	Macroglossia	Macroglossia
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:156207	"" []	215223	\N	\N	EFO	1	EFO	Genetic head and neck malformation	Macroglossia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:156207	"" []	569366	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Macroglossia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156207	"" []	1151163	\N	\N	EFO	3	EFO	genetic disorder	Macroglossia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156207	"" []	2033522	\N	\N	EFO	4	EFO	disease	Macroglossia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156207	"" []	3184022	\N	\N	EFO	5	EFO	disposition	Macroglossia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156207	"" []	4391768	\N	\N	EFO	6	EFO	material property	Macroglossia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156207	"" []	5410769	\N	\N	EFO	7	EFO	experimental factor	Macroglossia
Orphanet:156212	\N	\N	"" []	Orphanet:156212	"" []	73716	\N	\N	EFO	0	EFO	Hypoglossia/aglossia	Hypoglossia/aglossia
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:156212	"" []	215224	\N	\N	EFO	1	EFO	Genetic head and neck malformation	Hypoglossia/aglossia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:156212	"" []	569367	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hypoglossia/aglossia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156212	"" []	1151164	\N	\N	EFO	3	EFO	genetic disorder	Hypoglossia/aglossia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156212	"" []	2033523	\N	\N	EFO	4	EFO	disease	Hypoglossia/aglossia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156212	"" []	3184023	\N	\N	EFO	5	EFO	disposition	Hypoglossia/aglossia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156212	"" []	4391769	\N	\N	EFO	6	EFO	material property	Hypoglossia/aglossia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156212	"" []	5410770	\N	\N	EFO	7	EFO	experimental factor	Hypoglossia/aglossia
Orphanet:156215	\N	\N	"" []	Orphanet:156215	"" []	73717	\N	\N	EFO	0	EFO	Oromandibular-limb anomalies syndrome	Oromandibular-limb anomalies syndrome
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:156215	"" []	215225	\N	\N	EFO	1	EFO	Hypoglossia/aglossia	Oromandibular-limb anomalies syndrome
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:156215	"" []	569368	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Oromandibular-limb anomalies syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:156215	"" []	1151165	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oromandibular-limb anomalies syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156215	"" []	2033524	\N	\N	EFO	4	EFO	genetic disorder	Oromandibular-limb anomalies syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156215	"" []	3184024	\N	\N	EFO	5	EFO	disease	Oromandibular-limb anomalies syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156215	"" []	4391770	\N	\N	EFO	6	EFO	disposition	Oromandibular-limb anomalies syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156215	"" []	5410771	\N	\N	EFO	7	EFO	material property	Oromandibular-limb anomalies syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156215	"" []	6148335	\N	\N	EFO	8	EFO	experimental factor	Oromandibular-limb anomalies syndrome
Orphanet:156224	\N	\N	"" []	Orphanet:156224	"" []	73718	\N	\N	EFO	0	EFO	Paralytic facial malformation	Paralytic facial malformation
Orphanet:183583	Orphanet:156224	\N	"" []	Orphanet:156224	"" []	215226	\N	\N	EFO	1	EFO	Genetic head and neck malformation	Paralytic facial malformation
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:156224	"" []	569369	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Paralytic facial malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156224	"" []	1151166	\N	\N	EFO	3	EFO	genetic disorder	Paralytic facial malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156224	"" []	2033525	\N	\N	EFO	4	EFO	disease	Paralytic facial malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156224	"" []	3184025	\N	\N	EFO	5	EFO	disposition	Paralytic facial malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156224	"" []	4391771	\N	\N	EFO	6	EFO	material property	Paralytic facial malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156224	"" []	5410772	\N	\N	EFO	7	EFO	experimental factor	Paralytic facial malformation
Orphanet:156237	\N	\N	"" []	Orphanet:156237	"" []	73719	\N	\N	EFO	0	EFO	Syndrome or malformation associated with head and neck malformations	Syndrome or malformation associated with head and neck malformations
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:156237	"" []	215227	\N	\N	EFO	1	EFO	Rare otorhinolaryngological malformation	Syndrome or malformation associated with head and neck malformations
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:156237	"" []	569370	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Syndrome or malformation associated with head and neck malformations
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:156237	"" []	1151167	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndrome or malformation associated with head and neck malformations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156237	"" []	2033526	\N	\N	EFO	4	EFO	genetic disorder	Syndrome or malformation associated with head and neck malformations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156237	"" []	3184026	\N	\N	EFO	5	EFO	disease	Syndrome or malformation associated with head and neck malformations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156237	"" []	4391772	\N	\N	EFO	6	EFO	disposition	Syndrome or malformation associated with head and neck malformations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156237	"" []	5410773	\N	\N	EFO	7	EFO	material property	Syndrome or malformation associated with head and neck malformations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156237	"" []	6148336	\N	\N	EFO	8	EFO	experimental factor	Syndrome or malformation associated with head and neck malformations
Orphanet:156249	\N	\N	"" []	Orphanet:156249	"" []	73720	\N	\N	EFO	0	EFO	Larynx anomaly	Larynx anomaly
Orphanet:96333	Orphanet:156249	\N	"" []	Orphanet:156249	"" []	215228	\N	\N	EFO	1	EFO	Rare otorhinolaryngological malformation	Larynx anomaly
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:156249	"" []	569371	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Larynx anomaly
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:156249	"" []	1151168	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Larynx anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156249	"" []	2033527	\N	\N	EFO	4	EFO	genetic disorder	Larynx anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156249	"" []	3184027	\N	\N	EFO	5	EFO	disease	Larynx anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156249	"" []	4391773	\N	\N	EFO	6	EFO	disposition	Larynx anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156249	"" []	5410774	\N	\N	EFO	7	EFO	material property	Larynx anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156249	"" []	6148337	\N	\N	EFO	8	EFO	experimental factor	Larynx anomaly
Orphanet:156252	\N	\N	"" []	Orphanet:156252	"" []	73721	\N	\N	EFO	0	EFO	Tracheal anomaly	Tracheal anomaly
Orphanet:96333	Orphanet:156252	\N	"" []	Orphanet:156252	"" []	215229	\N	\N	EFO	1	EFO	Rare otorhinolaryngological malformation	Tracheal anomaly
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:156252	"" []	569372	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Tracheal anomaly
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:156252	"" []	1151169	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Tracheal anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156252	"" []	2033528	\N	\N	EFO	4	EFO	genetic disorder	Tracheal anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156252	"" []	3184028	\N	\N	EFO	5	EFO	disease	Tracheal anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156252	"" []	4391774	\N	\N	EFO	6	EFO	disposition	Tracheal anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156252	"" []	5410775	\N	\N	EFO	7	EFO	material property	Tracheal anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156252	"" []	6148338	\N	\N	EFO	8	EFO	experimental factor	Tracheal anomaly
Orphanet:1563	\N	\N	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	73722	\N	\N	EFO	0	EFO	Dahlberg-Borer-Newcomer syndrome	Dahlberg-Borer-Newcomer syndrome
Orphanet:181402	Orphanet:1563	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	215230	\N	\N	EFO	1	EFO	Syndrome with hypoparathyroidism	Dahlberg-Borer-Newcomer syndrome
Orphanet:330206	Orphanet:1563	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	215231	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Dahlberg-Borer-Newcomer syndrome
Orphanet:79373	Orphanet:1563	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	215232	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Dahlberg-Borer-Newcomer syndrome
Orphanet:89832	Orphanet:1563	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	215233	\N	\N	EFO	1	EFO	Syndromic lymphedema	Dahlberg-Borer-Newcomer syndrome
Orphanet:208593	Orphanet:181402	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	569373	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Dahlberg-Borer-Newcomer syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	569374	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Dahlberg-Borer-Newcomer syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	569375	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Dahlberg-Borer-Newcomer syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	569376	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Dahlberg-Borer-Newcomer syndrome
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	569377	\N	\N	EFO	2	EFO	Lymphedema	Dahlberg-Borer-Newcomer syndrome
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	1151170	\N	\N	EFO	3	EFO	parathyroid disease	Dahlberg-Borer-Newcomer syndrome
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	1151171	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Dahlberg-Borer-Newcomer syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	1151172	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dahlberg-Borer-Newcomer syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	1151173	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dahlberg-Borer-Newcomer syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	1151174	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dahlberg-Borer-Newcomer syndrome
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	1151175	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dahlberg-Borer-Newcomer syndrome
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	2033529	\N	\N	EFO	4	EFO	calcium metabolic disease	Dahlberg-Borer-Newcomer syndrome
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	2033530	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Dahlberg-Borer-Newcomer syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	2033531	\N	\N	EFO	4	EFO	genetic disorder	Dahlberg-Borer-Newcomer syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	2033532	\N	\N	EFO	4	EFO	genetic disorder	Dahlberg-Borer-Newcomer syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	2033533	\N	\N	EFO	4	EFO	skin disease	Dahlberg-Borer-Newcomer syndrome
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	3184029	\N	\N	EFO	5	EFO	metabolic disease	Dahlberg-Borer-Newcomer syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	3184030	\N	\N	EFO	5	EFO	genetic disorder	Dahlberg-Borer-Newcomer syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	3184031	\N	\N	EFO	5	EFO	endocrine system disease	Dahlberg-Borer-Newcomer syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	4391776	\N	\N	EFO	6	EFO	disease	Dahlberg-Borer-Newcomer syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	3184033	\N	\N	EFO	5	EFO	disease	Dahlberg-Borer-Newcomer syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	4391775	\N	\N	EFO	6	EFO	disease	Dahlberg-Borer-Newcomer syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	4391777	\N	\N	EFO	6	EFO	disease	Dahlberg-Borer-Newcomer syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	5181668	\N	\N	EFO	7	EFO	disposition	Dahlberg-Borer-Newcomer syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	5997044	\N	\N	EFO	8	EFO	material property	Dahlberg-Borer-Newcomer syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1563	"Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." []	6550594	\N	\N	EFO	9	EFO	experimental factor	Dahlberg-Borer-Newcomer syndrome
Orphanet:156532	\N	\N	"" []	Orphanet:156532	"" []	73723	\N	\N	EFO	0	EFO	Rare syndrome with cardiac malformations	Rare syndrome with cardiac malformations
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:156532	"" []	215234	\N	\N	EFO	1	EFO	Rare genetic cardiac disease	Rare syndrome with cardiac malformations
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156532	"" []	569378	\N	\N	EFO	2	EFO	genetic disorder	Rare syndrome with cardiac malformations
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:156532	"" []	569379	\N	\N	EFO	2	EFO	heart disease	Rare syndrome with cardiac malformations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156532	"" []	1151176	\N	\N	EFO	3	EFO	disease	Rare syndrome with cardiac malformations
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:156532	"" []	1151177	\N	\N	EFO	3	EFO	cardiovascular disease	Rare syndrome with cardiac malformations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156532	"" []	3184035	\N	\N	EFO	5	EFO	disposition	Rare syndrome with cardiac malformations
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156532	"" []	2033535	\N	\N	EFO	4	EFO	disease	Rare syndrome with cardiac malformations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156532	"" []	4133337	\N	\N	EFO	6	EFO	material property	Rare syndrome with cardiac malformations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156532	"" []	5181669	\N	\N	EFO	7	EFO	experimental factor	Rare syndrome with cardiac malformations
Orphanet:1566	\N	\N	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	73724	\N	\N	EFO	0	EFO	Dandy-Walker malformation - postaxial polydactyly	Dandy-Walker malformation - postaxial polydactyly
Orphanet:294959	Orphanet:1566	\N	"" []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	215235	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Dandy-Walker malformation - postaxial polydactyly
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	569380	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Dandy-Walker malformation - postaxial polydactyly
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	569381	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Dandy-Walker malformation - postaxial polydactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	1151178	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Dandy-Walker malformation - postaxial polydactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	1151179	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Dandy-Walker malformation - postaxial polydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	2033536	\N	\N	EFO	4	EFO	Rare genetic bone disease	Dandy-Walker malformation - postaxial polydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	2033537	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Dandy-Walker malformation - postaxial polydactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	2033538	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dandy-Walker malformation - postaxial polydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	3184036	\N	\N	EFO	5	EFO	genetic disorder	Dandy-Walker malformation - postaxial polydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	3184037	\N	\N	EFO	5	EFO	bone disease	Dandy-Walker malformation - postaxial polydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	3184038	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Dandy-Walker malformation - postaxial polydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	4391782	\N	\N	EFO	6	EFO	genetic disorder	Dandy-Walker malformation - postaxial polydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	5181670	\N	\N	EFO	7	EFO	disease	Dandy-Walker malformation - postaxial polydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	4391781	\N	\N	EFO	6	EFO	skeletal system disease	Dandy-Walker malformation - postaxial polydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	5997045	\N	\N	EFO	8	EFO	disposition	Dandy-Walker malformation - postaxial polydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	5410778	\N	\N	EFO	7	EFO	disease	Dandy-Walker malformation - postaxial polydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	6550595	\N	\N	EFO	9	EFO	material property	Dandy-Walker malformation - postaxial polydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1566	"Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." []	6889053	\N	\N	EFO	10	EFO	experimental factor	Dandy-Walker malformation - postaxial polydactyly
Orphanet:156601	\N	\N	"" []	Orphanet:156601	"" []	73725	\N	\N	EFO	0	EFO	Rare genetic hepatic disease	Rare genetic hepatic disease
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:156601	"" []	215236	\N	\N	EFO	1	EFO	digestive system disease	Rare genetic hepatic disease
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156601	"" []	215237	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic hepatic disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156601	"" []	569382	\N	\N	EFO	2	EFO	disease	Rare genetic hepatic disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156601	"" []	569383	\N	\N	EFO	2	EFO	disease	Rare genetic hepatic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156601	"" []	1151180	\N	\N	EFO	3	EFO	disposition	Rare genetic hepatic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156601	"" []	2033539	\N	\N	EFO	4	EFO	material property	Rare genetic hepatic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156601	"" []	3184040	\N	\N	EFO	5	EFO	experimental factor	Rare genetic hepatic disease
Orphanet:156604	\N	\N	"" []	Orphanet:156604	"" []	73726	\N	\N	EFO	0	EFO	Genetic parenchymatous liver disease	Genetic parenchymatous liver disease
Orphanet:156601	Orphanet:156604	\N	"" []	Orphanet:156604	"" []	215238	\N	\N	EFO	1	EFO	Rare genetic hepatic disease	Genetic parenchymatous liver disease
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:156604	"" []	569384	\N	\N	EFO	2	EFO	digestive system disease	Genetic parenchymatous liver disease
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156604	"" []	569385	\N	\N	EFO	2	EFO	genetic disorder	Genetic parenchymatous liver disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156604	"" []	1151181	\N	\N	EFO	3	EFO	disease	Genetic parenchymatous liver disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156604	"" []	1151182	\N	\N	EFO	3	EFO	disease	Genetic parenchymatous liver disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156604	"" []	2033540	\N	\N	EFO	4	EFO	disposition	Genetic parenchymatous liver disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156604	"" []	3184041	\N	\N	EFO	5	EFO	material property	Genetic parenchymatous liver disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156604	"" []	4391783	\N	\N	EFO	6	EFO	experimental factor	Genetic parenchymatous liver disease
Orphanet:156607	\N	\N	"" []	Orphanet:156607	"" []	73727	\N	\N	EFO	0	EFO	Genetic biliary tract disease	Genetic biliary tract disease
Orphanet:156601	Orphanet:156607	\N	"" []	Orphanet:156607	"" []	215239	\N	\N	EFO	1	EFO	Rare genetic hepatic disease	Genetic biliary tract disease
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:156607	"" []	569386	\N	\N	EFO	2	EFO	digestive system disease	Genetic biliary tract disease
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156607	"" []	569387	\N	\N	EFO	2	EFO	genetic disorder	Genetic biliary tract disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156607	"" []	1151183	\N	\N	EFO	3	EFO	disease	Genetic biliary tract disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156607	"" []	1151184	\N	\N	EFO	3	EFO	disease	Genetic biliary tract disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156607	"" []	2033541	\N	\N	EFO	4	EFO	disposition	Genetic biliary tract disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156607	"" []	3184042	\N	\N	EFO	5	EFO	material property	Genetic biliary tract disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156607	"" []	4391784	\N	\N	EFO	6	EFO	experimental factor	Genetic biliary tract disease
Orphanet:156610	\N	\N	"" []	Orphanet:156610	"" []	73728	\N	\N	EFO	0	EFO	Rare genetic respiratory disease	Rare genetic respiratory disease
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156610	"" []	215240	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic respiratory disease
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:156610	"" []	215241	\N	\N	EFO	1	EFO	respiratory system disease	Rare genetic respiratory disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156610	"" []	569388	\N	\N	EFO	2	EFO	disease	Rare genetic respiratory disease
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156610	"" []	569389	\N	\N	EFO	2	EFO	disease	Rare genetic respiratory disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156610	"" []	1151185	\N	\N	EFO	3	EFO	disposition	Rare genetic respiratory disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156610	"" []	2033542	\N	\N	EFO	4	EFO	material property	Rare genetic respiratory disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156610	"" []	3184043	\N	\N	EFO	5	EFO	experimental factor	Rare genetic respiratory disease
Orphanet:156619	\N	\N	"" []	Orphanet:156619	"" []	73729	\N	\N	EFO	0	EFO	Rare genetic urogenital disease	Rare genetic urogenital disease
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156619	"" []	215242	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic urogenital disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156619	"" []	569390	\N	\N	EFO	2	EFO	disease	Rare genetic urogenital disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156619	"" []	1151186	\N	\N	EFO	3	EFO	disposition	Rare genetic urogenital disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156619	"" []	2033543	\N	\N	EFO	4	EFO	material property	Rare genetic urogenital disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156619	"" []	3184044	\N	\N	EFO	5	EFO	experimental factor	Rare genetic urogenital disease
Orphanet:156622	\N	\N	"" []	Orphanet:156622	"" []	73730	\N	\N	EFO	0	EFO	Genetic urogenital tract malformation	Genetic urogenital tract malformation
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:156622	"" []	215243	\N	\N	EFO	1	EFO	Rare genetic urogenital disease	Genetic urogenital tract malformation
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156622	"" []	569391	\N	\N	EFO	2	EFO	genetic disorder	Genetic urogenital tract malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156622	"" []	1151187	\N	\N	EFO	3	EFO	disease	Genetic urogenital tract malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156622	"" []	2033544	\N	\N	EFO	4	EFO	disposition	Genetic urogenital tract malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156622	"" []	3184045	\N	\N	EFO	5	EFO	material property	Genetic urogenital tract malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156622	"" []	4391785	\N	\N	EFO	6	EFO	experimental factor	Genetic urogenital tract malformation
Orphanet:156629	\N	\N	"" []	Orphanet:156629	"" []	73731	\N	\N	EFO	0	EFO	Genetic hypertension	Genetic hypertension
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:156629	"" []	215244	\N	\N	EFO	1	EFO	Rare genetic renal disease	Genetic hypertension
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156629	"" []	569392	\N	\N	EFO	2	EFO	genetic disorder	Genetic hypertension
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156629	"" []	1151188	\N	\N	EFO	3	EFO	disease	Genetic hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156629	"" []	2033545	\N	\N	EFO	4	EFO	disposition	Genetic hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156629	"" []	3184046	\N	\N	EFO	5	EFO	material property	Genetic hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156629	"" []	4391786	\N	\N	EFO	6	EFO	experimental factor	Genetic hypertension
Orphanet:156638	\N	\N	"" []	Orphanet:156638	"" []	73732	\N	\N	EFO	0	EFO	Rare genetic endocrine disease	Rare genetic endocrine disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156638	"" []	215245	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic endocrine disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:156638	"" []	215246	\N	\N	EFO	1	EFO	endocrine system disease	Rare genetic endocrine disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156638	"" []	569393	\N	\N	EFO	2	EFO	disease	Rare genetic endocrine disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156638	"" []	569394	\N	\N	EFO	2	EFO	disease	Rare genetic endocrine disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156638	"" []	1151189	\N	\N	EFO	3	EFO	disposition	Rare genetic endocrine disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156638	"" []	2033546	\N	\N	EFO	4	EFO	material property	Rare genetic endocrine disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156638	"" []	3184047	\N	\N	EFO	5	EFO	experimental factor	Rare genetic endocrine disease
Orphanet:156728	\N	\N	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	73733	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia, matrilin-3 type	Spondyloepimetaphyseal dysplasia, matrilin-3 type
Orphanet:253	Orphanet:156728	\N	"" []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	215247	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia, matrilin-3 type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	569395	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia, matrilin-3 type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	1151190	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia, matrilin-3 type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	1151191	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia, matrilin-3 type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	2033547	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, matrilin-3 type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	2033548	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia, matrilin-3 type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	2033549	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia, matrilin-3 type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	4391789	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, matrilin-3 type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	3184049	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia, matrilin-3 type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	3184050	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, matrilin-3 type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	5181671	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia, matrilin-3 type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	4391788	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, matrilin-3 type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	5997046	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia, matrilin-3 type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156728	"Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." []	6550596	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia, matrilin-3 type
Orphanet:156731	\N	\N	"" []	Orphanet:156731	"" []	73734	\N	\N	EFO	0	EFO	Dyssegmental dysplasia, Rolland-Desbuquois type	Dyssegmental dysplasia, Rolland-Desbuquois type
Orphanet:253	Orphanet:156731	\N	"" []	Orphanet:156731	"" []	215248	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Dyssegmental dysplasia, Rolland-Desbuquois type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:156731	"" []	569396	\N	\N	EFO	2	EFO	Primary bone dysplasia	Dyssegmental dysplasia, Rolland-Desbuquois type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:156731	"" []	1151192	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dyssegmental dysplasia, Rolland-Desbuquois type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:156731	"" []	1151193	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dyssegmental dysplasia, Rolland-Desbuquois type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156731	"" []	2033550	\N	\N	EFO	4	EFO	genetic disorder	Dyssegmental dysplasia, Rolland-Desbuquois type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:156731	"" []	2033551	\N	\N	EFO	4	EFO	bone disease	Dyssegmental dysplasia, Rolland-Desbuquois type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:156731	"" []	2033552	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dyssegmental dysplasia, Rolland-Desbuquois type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156731	"" []	4391792	\N	\N	EFO	6	EFO	disease	Dyssegmental dysplasia, Rolland-Desbuquois type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:156731	"" []	3184052	\N	\N	EFO	5	EFO	skeletal system disease	Dyssegmental dysplasia, Rolland-Desbuquois type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:156731	"" []	3184053	\N	\N	EFO	5	EFO	genetic disorder	Dyssegmental dysplasia, Rolland-Desbuquois type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:156731	"" []	5181672	\N	\N	EFO	7	EFO	disposition	Dyssegmental dysplasia, Rolland-Desbuquois type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:156731	"" []	4391791	\N	\N	EFO	6	EFO	disease	Dyssegmental dysplasia, Rolland-Desbuquois type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:156731	"" []	5997047	\N	\N	EFO	8	EFO	material property	Dyssegmental dysplasia, Rolland-Desbuquois type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:156731	"" []	6550597	\N	\N	EFO	9	EFO	experimental factor	Dyssegmental dysplasia, Rolland-Desbuquois type
Orphanet:1568	\N	\N	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	73735	\N	\N	EFO	0	EFO	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
Orphanet:269567	Orphanet:1568	\N	"" []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	215249	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
Orphanet:98464	Orphanet:1568	\N	"" []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	215250	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	569397	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	569398	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	1151194	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	1151195	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	2033553	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	2033554	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	2033555	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	3184054	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	3184055	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	4391793	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	5410781	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	6148343	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1568	"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." []	6632161	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
Orphanet:157	\N	\N	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	73736	\N	\N	EFO	0	EFO	Carnitine palmitoyltransferase II deficiency	Carnitine palmitoyltransferase II deficiency
Orphanet:206953	Orphanet:157	\N	"" []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	215251	\N	\N	EFO	1	EFO	Muscular lipidosis	Carnitine palmitoyltransferase II deficiency
Orphanet:309130	Orphanet:157	\N	"" []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	215252	\N	\N	EFO	1	EFO	Disorder of carnitine cycle and carnitine transport	Carnitine palmitoyltransferase II deficiency
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	569399	\N	\N	EFO	2	EFO	Metabolic myopathy	Carnitine palmitoyltransferase II deficiency
Orphanet:79174	Orphanet:309130	\N	"" []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	569400	\N	\N	EFO	2	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Carnitine palmitoyltransferase II deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	1151196	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Carnitine palmitoyltransferase II deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	1151197	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Carnitine palmitoyltransferase II deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	2033556	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Carnitine palmitoyltransferase II deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	2033557	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Carnitine palmitoyltransferase II deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	3184056	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Carnitine palmitoyltransferase II deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	3184057	\N	\N	EFO	5	EFO	genetic disorder	Carnitine palmitoyltransferase II deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	3184058	\N	\N	EFO	5	EFO	metabolic disease	Carnitine palmitoyltransferase II deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	4391794	\N	\N	EFO	6	EFO	muscular disease	Carnitine palmitoyltransferase II deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	4391795	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Carnitine palmitoyltransferase II deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	6148345	\N	\N	EFO	8	EFO	disease	Carnitine palmitoyltransferase II deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	4391797	\N	\N	EFO	6	EFO	disease	Carnitine palmitoyltransferase II deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	5410782	\N	\N	EFO	7	EFO	skeletal system disease	Carnitine palmitoyltransferase II deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	5410783	\N	\N	EFO	7	EFO	genetic disorder	Carnitine palmitoyltransferase II deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	6470019	\N	\N	EFO	9	EFO	disposition	Carnitine palmitoyltransferase II deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	6148344	\N	\N	EFO	8	EFO	disease	Carnitine palmitoyltransferase II deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	6848308	\N	\N	EFO	10	EFO	material property	Carnitine palmitoyltransferase II deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	7068382	\N	\N	EFO	11	EFO	experimental factor	Carnitine palmitoyltransferase II deficiency
Orphanet:1570	\N	\N	"" []	Orphanet:1570	"" []	73737	\N	\N	EFO	0	EFO	Symbrachydactyly of hands and feet	Symbrachydactyly of hands and feet
Orphanet:294937	Orphanet:1570	\N	"" []	Orphanet:1570	"" []	215253	\N	\N	EFO	1	EFO	Brachydactyly	Symbrachydactyly of hands and feet
Orphanet:294929	Orphanet:294937	\N	"" []	Orphanet:1570	"" []	569401	\N	\N	EFO	2	EFO	Terminal limb defects	Symbrachydactyly of hands and feet
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:1570	"" []	1151198	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Symbrachydactyly of hands and feet
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:1570	"" []	2033558	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Symbrachydactyly of hands and feet
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:1570	"" []	2033559	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Symbrachydactyly of hands and feet
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:1570	"" []	3184059	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Symbrachydactyly of hands and feet
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1570	"" []	3184060	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Symbrachydactyly of hands and feet
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1570	"" []	4391798	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Symbrachydactyly of hands and feet
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1570	"" []	4391799	\N	\N	EFO	6	EFO	Rare genetic bone disease	Symbrachydactyly of hands and feet
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1570	"" []	4391800	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Symbrachydactyly of hands and feet
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1570	"" []	6148349	\N	\N	EFO	8	EFO	genetic disorder	Symbrachydactyly of hands and feet
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1570	"" []	5410786	\N	\N	EFO	7	EFO	genetic disorder	Symbrachydactyly of hands and feet
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1570	"" []	5410787	\N	\N	EFO	7	EFO	bone disease	Symbrachydactyly of hands and feet
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1570	"" []	5410788	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Symbrachydactyly of hands and feet
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1570	"" []	6550598	\N	\N	EFO	9	EFO	disease	Symbrachydactyly of hands and feet
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1570	"" []	6148348	\N	\N	EFO	8	EFO	skeletal system disease	Symbrachydactyly of hands and feet
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1570	"" []	6889054	\N	\N	EFO	10	EFO	disposition	Symbrachydactyly of hands and feet
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1570	"" []	6632164	\N	\N	EFO	9	EFO	disease	Symbrachydactyly of hands and feet
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1570	"" []	7085903	\N	\N	EFO	11	EFO	material property	Symbrachydactyly of hands and feet
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1570	"" []	7204337	\N	\N	EFO	12	EFO	experimental factor	Symbrachydactyly of hands and feet
Orphanet:1571	\N	\N	"" []	Orphanet:1571	"" []	73738	\N	\N	EFO	0	EFO	Knobloch syndrome	Knobloch syndrome
Orphanet:108987	Orphanet:1571	\N	"" []	Orphanet:1571	"" []	215254	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Knobloch syndrome
Orphanet:98670	Orphanet:1571	\N	"" []	Orphanet:1571	"" []	215255	\N	\N	EFO	1	EFO	Vitreoretinal degeneration	Knobloch syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1571	"" []	569402	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Knobloch syndrome
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:1571	"" []	569403	\N	\N	EFO	2	EFO	Vitreoretinopathy	Knobloch syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1571	"" []	1151199	\N	\N	EFO	3	EFO	Rare genetic eye disease	Knobloch syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1571	"" []	1151200	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Knobloch syndrome
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:1571	"" []	1151201	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Knobloch syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1571	"" []	3184063	\N	\N	EFO	5	EFO	genetic disorder	Knobloch syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1571	"" []	3184064	\N	\N	EFO	5	EFO	eye disease	Knobloch syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1571	"" []	2033562	\N	\N	EFO	4	EFO	genetic disorder	Knobloch syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1571	"" []	2033563	\N	\N	EFO	4	EFO	Rare genetic eye disease	Knobloch syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1571	"" []	4133338	\N	\N	EFO	6	EFO	disease	Knobloch syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1571	"" []	4133339	\N	\N	EFO	6	EFO	disease	Knobloch syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1571	"" []	5181673	\N	\N	EFO	7	EFO	disposition	Knobloch syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1571	"" []	5997048	\N	\N	EFO	8	EFO	material property	Knobloch syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1571	"" []	6550599	\N	\N	EFO	9	EFO	experimental factor	Knobloch syndrome
Orphanet:1572	\N	\N	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	73739	\N	\N	EFO	0	EFO	Common variable immunodeficiency	Common variable immunodeficiency
Orphanet:101977	Orphanet:1572	\N	"" []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	215256	\N	\N	EFO	1	EFO	Immunodeficiency predominantly affecting antibody production	Common variable immunodeficiency
Orphanet:140162	Orphanet:1572	\N	"" []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	215257	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Common variable immunodeficiency
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	569404	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Common variable immunodeficiency
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	569405	\N	\N	EFO	2	EFO	genetic disorder	Common variable immunodeficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	1151202	\N	\N	EFO	3	EFO	Primary immunodeficiency	Common variable immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	4391802	\N	\N	EFO	6	EFO	disease	Common variable immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	2033564	\N	\N	EFO	4	EFO	Rare genetic immune disease	Common variable immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	5028389	\N	\N	EFO	7	EFO	disposition	Common variable immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	3184065	\N	\N	EFO	5	EFO	genetic disorder	Common variable immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	3184066	\N	\N	EFO	5	EFO	immune system disease	Common variable immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	5817495	\N	\N	EFO	8	EFO	material property	Common variable immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	4391803	\N	\N	EFO	6	EFO	disease	Common variable immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1572	"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." []	6409856	\N	\N	EFO	9	EFO	experimental factor	Common variable immunodeficiency
Orphanet:157215	\N	\N	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	73740	\N	\N	EFO	0	EFO	Hereditary hypophosphatemic rickets with hypercalciuria	Hereditary hypophosphatemic rickets with hypercalciuria
Orphanet:437	Orphanet:157215	\N	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	215258	\N	\N	EFO	1	EFO	Hypophosphatemic rickets	Hereditary hypophosphatemic rickets with hypercalciuria
Orphanet:183592	Orphanet:437	\N	"" []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	569406	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Hereditary hypophosphatemic rickets with hypercalciuria
Orphanet:289098	Orphanet:437	\N	"" []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	569407	\N	\N	EFO	2	EFO	Disorders of vitamin D metabolism	Hereditary hypophosphatemic rickets with hypercalciuria
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	1151204	\N	\N	EFO	3	EFO	Rare genetic renal disease	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0005596	Orphanet:289098	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	1151205	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Hereditary hypophosphatemic rickets with hypercalciuria
Orphanet:183634	Orphanet:289098	\N	"" []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	1151206	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Hereditary hypophosphatemic rickets with hypercalciuria
Orphanet:93447	Orphanet:289098	\N	"" []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	1151207	\N	\N	EFO	3	EFO	Primary bone dysplasia with defective bone mineralization	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	2033566	\N	\N	EFO	4	EFO	genetic disorder	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	2033567	\N	\N	EFO	4	EFO	metabolic disease	Hereditary hypophosphatemic rickets with hypercalciuria
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	2033568	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hereditary hypophosphatemic rickets with hypercalciuria
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	2033569	\N	\N	EFO	4	EFO	Primary bone dysplasia	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	6148353	\N	\N	EFO	8	EFO	disease	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	3184069	\N	\N	EFO	5	EFO	disease	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	3184070	\N	\N	EFO	5	EFO	genetic disorder	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	3184071	\N	\N	EFO	5	EFO	endocrine system disease	Hereditary hypophosphatemic rickets with hypercalciuria
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	3184072	\N	\N	EFO	5	EFO	Rare genetic bone disease	Hereditary hypophosphatemic rickets with hypercalciuria
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	3184073	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Hereditary hypophosphatemic rickets with hypercalciuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	6409857	\N	\N	EFO	9	EFO	disposition	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	4391807	\N	\N	EFO	6	EFO	disease	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	4391808	\N	\N	EFO	6	EFO	genetic disorder	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	4391809	\N	\N	EFO	6	EFO	bone disease	Hereditary hypophosphatemic rickets with hypercalciuria
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	4391810	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Hereditary hypophosphatemic rickets with hypercalciuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	6807709	\N	\N	EFO	10	EFO	material property	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	5410792	\N	\N	EFO	7	EFO	skeletal system disease	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	5410793	\N	\N	EFO	7	EFO	genetic disorder	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	7048554	\N	\N	EFO	11	EFO	experimental factor	Hereditary hypophosphatemic rickets with hypercalciuria
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157215	"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." []	6148352	\N	\N	EFO	8	EFO	disease	Hereditary hypophosphatemic rickets with hypercalciuria
Orphanet:1573	\N	\N	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	73741	\N	\N	EFO	0	EFO	Hypotrichosis with juvenile macular degeneration	Hypotrichosis with juvenile macular degeneration
Orphanet:79373	Orphanet:1573	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	215259	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Hypotrichosis with juvenile macular degeneration
Orphanet:98666	Orphanet:1573	\N	"" []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	215260	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Hypotrichosis with juvenile macular degeneration
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	569408	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Hypotrichosis with juvenile macular degeneration
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	569409	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Hypotrichosis with juvenile macular degeneration
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	569410	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Hypotrichosis with juvenile macular degeneration
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	1151208	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypotrichosis with juvenile macular degeneration
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	1151209	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hypotrichosis with juvenile macular degeneration
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	1151210	\N	\N	EFO	3	EFO	Retinal dystrophy	Hypotrichosis with juvenile macular degeneration
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	2033570	\N	\N	EFO	4	EFO	genetic disorder	Hypotrichosis with juvenile macular degeneration
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	2033571	\N	\N	EFO	4	EFO	genetic disorder	Hypotrichosis with juvenile macular degeneration
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	2033572	\N	\N	EFO	4	EFO	skin disease	Hypotrichosis with juvenile macular degeneration
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	2033573	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Hypotrichosis with juvenile macular degeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	5410795	\N	\N	EFO	7	EFO	disease	Hypotrichosis with juvenile macular degeneration
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	3184075	\N	\N	EFO	5	EFO	disease	Hypotrichosis with juvenile macular degeneration
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	3184076	\N	\N	EFO	5	EFO	Rare genetic eye disease	Hypotrichosis with juvenile macular degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	5876810	\N	\N	EFO	8	EFO	disposition	Hypotrichosis with juvenile macular degeneration
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	4391812	\N	\N	EFO	6	EFO	genetic disorder	Hypotrichosis with juvenile macular degeneration
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	4391813	\N	\N	EFO	6	EFO	eye disease	Hypotrichosis with juvenile macular degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	6470021	\N	\N	EFO	9	EFO	material property	Hypotrichosis with juvenile macular degeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	5410796	\N	\N	EFO	7	EFO	disease	Hypotrichosis with juvenile macular degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1573	"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." []	6848310	\N	\N	EFO	10	EFO	experimental factor	Hypotrichosis with juvenile macular degeneration
Orphanet:1574	\N	\N	"" []	Orphanet:1574	"" []	73742	\N	\N	EFO	0	EFO	Retinal degeneration - nanophthalmos - glaucoma	Retinal degeneration - nanophthalmos - glaucoma
Orphanet:108985	Orphanet:1574	\N	"" []	Orphanet:1574	"" []	215261	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Retinal degeneration - nanophthalmos - glaucoma
Orphanet:71862	Orphanet:1574	\N	"" []	Orphanet:1574	"" []	215262	\N	\N	EFO	1	EFO	Retinal dystrophy	Retinal degeneration - nanophthalmos - glaucoma
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:1574	"" []	569411	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Retinal degeneration - nanophthalmos - glaucoma
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1574	"" []	569412	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Retinal degeneration - nanophthalmos - glaucoma
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1574	"" []	1151211	\N	\N	EFO	3	EFO	Rare genetic eye disease	Retinal degeneration - nanophthalmos - glaucoma
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1574	"" []	1151212	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Retinal degeneration - nanophthalmos - glaucoma
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1574	"" []	1151213	\N	\N	EFO	3	EFO	Rare genetic eye disease	Retinal degeneration - nanophthalmos - glaucoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1574	"" []	2033574	\N	\N	EFO	4	EFO	genetic disorder	Retinal degeneration - nanophthalmos - glaucoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1574	"" []	2033575	\N	\N	EFO	4	EFO	eye disease	Retinal degeneration - nanophthalmos - glaucoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1574	"" []	2033576	\N	\N	EFO	4	EFO	genetic disorder	Retinal degeneration - nanophthalmos - glaucoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1574	"" []	3184077	\N	\N	EFO	5	EFO	disease	Retinal degeneration - nanophthalmos - glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1574	"" []	3184078	\N	\N	EFO	5	EFO	disease	Retinal degeneration - nanophthalmos - glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1574	"" []	4391814	\N	\N	EFO	6	EFO	disposition	Retinal degeneration - nanophthalmos - glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1574	"" []	5410797	\N	\N	EFO	7	EFO	material property	Retinal degeneration - nanophthalmos - glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1574	"" []	6148355	\N	\N	EFO	8	EFO	experimental factor	Retinal degeneration - nanophthalmos - glaucoma
Orphanet:1576	\N	\N	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	73743	\N	\N	EFO	0	EFO	Infantile bilateral striatal necrosis	Infantile bilateral striatal necrosis
Orphanet:183763	Orphanet:1576	\N	"" []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	215263	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Infantile bilateral striatal necrosis
Orphanet:307058	Orphanet:1576	\N	"" []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	215264	\N	\N	EFO	1	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Infantile bilateral striatal necrosis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	569413	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Infantile bilateral striatal necrosis
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	569414	\N	\N	EFO	2	EFO	neurodegenerative disease	Infantile bilateral striatal necrosis
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	569415	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Infantile bilateral striatal necrosis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	1151214	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile bilateral striatal necrosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	1151215	\N	\N	EFO	3	EFO	nervous system disease	Infantile bilateral striatal necrosis
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	1151216	\N	\N	EFO	3	EFO	movement disorder	Infantile bilateral striatal necrosis
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	1151217	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile bilateral striatal necrosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	2033577	\N	\N	EFO	4	EFO	genetic disorder	Infantile bilateral striatal necrosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	3184081	\N	\N	EFO	5	EFO	disease	Infantile bilateral striatal necrosis
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	2033579	\N	\N	EFO	4	EFO	nervous system disease	Infantile bilateral striatal necrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	3184079	\N	\N	EFO	5	EFO	disease	Infantile bilateral striatal necrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	4133340	\N	\N	EFO	6	EFO	disposition	Infantile bilateral striatal necrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	5181675	\N	\N	EFO	7	EFO	material property	Infantile bilateral striatal necrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1576	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	5997050	\N	\N	EFO	8	EFO	experimental factor	Infantile bilateral striatal necrosis
Orphanet:157713	\N	\N	"" []	Orphanet:157713	"" []	73744	\N	\N	EFO	0	EFO	Congenital or early infantile CACH syndrome	Congenital or early infantile CACH syndrome
Orphanet:135	Orphanet:157713	\N	"" []	Orphanet:157713	"" []	215265	\N	\N	EFO	1	EFO	CACH syndrome	Congenital or early infantile CACH syndrome
Orphanet:68356	Orphanet:135	\N	"" []	Orphanet:157713	"" []	569416	\N	\N	EFO	2	EFO	Leukodystrophy	Congenital or early infantile CACH syndrome
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:157713	"" []	1151218	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Congenital or early infantile CACH syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157713	"" []	2033580	\N	\N	EFO	4	EFO	genetic disorder	Congenital or early infantile CACH syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157713	"" []	3184082	\N	\N	EFO	5	EFO	disease	Congenital or early infantile CACH syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157713	"" []	4391816	\N	\N	EFO	6	EFO	disposition	Congenital or early infantile CACH syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157713	"" []	5410799	\N	\N	EFO	7	EFO	material property	Congenital or early infantile CACH syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157713	"" []	6148356	\N	\N	EFO	8	EFO	experimental factor	Congenital or early infantile CACH syndrome
Orphanet:157716	\N	\N	"" []	Orphanet:157716	"" []	73745	\N	\N	EFO	0	EFO	Late infantile CACH syndrome	Late infantile CACH syndrome
Orphanet:135	Orphanet:157716	\N	"" []	Orphanet:157716	"" []	215266	\N	\N	EFO	1	EFO	CACH syndrome	Late infantile CACH syndrome
Orphanet:68356	Orphanet:135	\N	"" []	Orphanet:157716	"" []	569417	\N	\N	EFO	2	EFO	Leukodystrophy	Late infantile CACH syndrome
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:157716	"" []	1151219	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Late infantile CACH syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157716	"" []	2033581	\N	\N	EFO	4	EFO	genetic disorder	Late infantile CACH syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157716	"" []	3184083	\N	\N	EFO	5	EFO	disease	Late infantile CACH syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157716	"" []	4391817	\N	\N	EFO	6	EFO	disposition	Late infantile CACH syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157716	"" []	5410800	\N	\N	EFO	7	EFO	material property	Late infantile CACH syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157716	"" []	6148357	\N	\N	EFO	8	EFO	experimental factor	Late infantile CACH syndrome
Orphanet:157719	\N	\N	"" []	Orphanet:157719	"" []	73746	\N	\N	EFO	0	EFO	Juvenile or adult CACH syndrome	Juvenile or adult CACH syndrome
Orphanet:135	Orphanet:157719	\N	"" []	Orphanet:157719	"" []	215267	\N	\N	EFO	1	EFO	CACH syndrome	Juvenile or adult CACH syndrome
Orphanet:68356	Orphanet:135	\N	"" []	Orphanet:157719	"" []	569418	\N	\N	EFO	2	EFO	Leukodystrophy	Juvenile or adult CACH syndrome
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:157719	"" []	1151220	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Juvenile or adult CACH syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157719	"" []	2033582	\N	\N	EFO	4	EFO	genetic disorder	Juvenile or adult CACH syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157719	"" []	3184084	\N	\N	EFO	5	EFO	disease	Juvenile or adult CACH syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157719	"" []	4391818	\N	\N	EFO	6	EFO	disposition	Juvenile or adult CACH syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157719	"" []	5410801	\N	\N	EFO	7	EFO	material property	Juvenile or adult CACH syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157719	"" []	6148358	\N	\N	EFO	8	EFO	experimental factor	Juvenile or adult CACH syndrome
Orphanet:157769	\N	\N	"" []	Orphanet:157769	"" []	73747	\N	\N	EFO	0	EFO	Situs ambiguus	Situs ambiguus
Orphanet:271853	Orphanet:157769	\N	"" []	Orphanet:157769	"" []	215268	\N	\N	EFO	1	EFO	Genetic cardiac anomaly	Situs ambiguus
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:157769	"" []	569419	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Situs ambiguus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157769	"" []	1151221	\N	\N	EFO	3	EFO	genetic disorder	Situs ambiguus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157769	"" []	2033583	\N	\N	EFO	4	EFO	disease	Situs ambiguus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157769	"" []	3184085	\N	\N	EFO	5	EFO	disposition	Situs ambiguus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157769	"" []	4391819	\N	\N	EFO	6	EFO	material property	Situs ambiguus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157769	"" []	5410802	\N	\N	EFO	7	EFO	experimental factor	Situs ambiguus
Orphanet:157788	\N	\N	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	73748	\N	\N	EFO	0	EFO	Hypospadias - hypertelorism - coloboma and deafness	Hypospadias - hypertelorism - coloboma and deafness
Orphanet:108987	Orphanet:157788	\N	"" []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	215269	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Hypospadias - hypertelorism - coloboma and deafness
Orphanet:90642	Orphanet:157788	\N	"" []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	215270	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Hypospadias - hypertelorism - coloboma and deafness
Orphanet:98558	Orphanet:157788	\N	"" []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	215271	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	Hypospadias - hypertelorism - coloboma and deafness
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	569420	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Hypospadias - hypertelorism - coloboma and deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	569421	\N	\N	EFO	2	EFO	Rare genetic deafness	Hypospadias - hypertelorism - coloboma and deafness
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	569422	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Hypospadias - hypertelorism - coloboma and deafness
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	1151222	\N	\N	EFO	3	EFO	Rare genetic eye disease	Hypospadias - hypertelorism - coloboma and deafness
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	1151223	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypospadias - hypertelorism - coloboma and deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	1151224	\N	\N	EFO	3	EFO	genetic disorder	Hypospadias - hypertelorism - coloboma and deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	1151225	\N	\N	EFO	3	EFO	auditory system disease	Hypospadias - hypertelorism - coloboma and deafness
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	2033584	\N	\N	EFO	4	EFO	genetic disorder	Hypospadias - hypertelorism - coloboma and deafness
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	2033585	\N	\N	EFO	4	EFO	eye disease	Hypospadias - hypertelorism - coloboma and deafness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	2033586	\N	\N	EFO	4	EFO	genetic disorder	Hypospadias - hypertelorism - coloboma and deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	3184086	\N	\N	EFO	5	EFO	disease	Hypospadias - hypertelorism - coloboma and deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	2033588	\N	\N	EFO	4	EFO	sensory system disease	Hypospadias - hypertelorism - coloboma and deafness
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	3184087	\N	\N	EFO	5	EFO	disease	Hypospadias - hypertelorism - coloboma and deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	5410804	\N	\N	EFO	7	EFO	disposition	Hypospadias - hypertelorism - coloboma and deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	3184089	\N	\N	EFO	5	EFO	nervous system disease	Hypospadias - hypertelorism - coloboma and deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	5876811	\N	\N	EFO	8	EFO	material property	Hypospadias - hypertelorism - coloboma and deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	4391821	\N	\N	EFO	6	EFO	disease	Hypospadias - hypertelorism - coloboma and deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157788	"Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." []	6470022	\N	\N	EFO	9	EFO	experimental factor	Hypospadias - hypertelorism - coloboma and deafness
Orphanet:157794	\N	\N	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	73749	\N	\N	EFO	0	EFO	Hereditary mixed polyposis syndrome	Hereditary mixed polyposis syndrome
Orphanet:140162	Orphanet:157794	\N	"" []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	215272	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Hereditary mixed polyposis syndrome
Orphanet:363314	Orphanet:157794	\N	"" []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	215273	\N	\N	EFO	1	EFO	Genetic intestinal polyposis	Hereditary mixed polyposis syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	569423	\N	\N	EFO	2	EFO	genetic disorder	Hereditary mixed polyposis syndrome
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	569424	\N	\N	EFO	2	EFO	Genetic intestinal disease	Hereditary mixed polyposis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	3184092	\N	\N	EFO	5	EFO	disease	Hereditary mixed polyposis syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	1151227	\N	\N	EFO	3	EFO	digestive system disease	Hereditary mixed polyposis syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	1151228	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Hereditary mixed polyposis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	4066857	\N	\N	EFO	6	EFO	disposition	Hereditary mixed polyposis syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	2033590	\N	\N	EFO	4	EFO	disease	Hereditary mixed polyposis syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	2033591	\N	\N	EFO	4	EFO	genetic disorder	Hereditary mixed polyposis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	5059636	\N	\N	EFO	7	EFO	material property	Hereditary mixed polyposis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157794	"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." []	5876812	\N	\N	EFO	8	EFO	experimental factor	Hereditary mixed polyposis syndrome
Orphanet:157798	\N	\N	"" []	Orphanet:157798	"" []	73750	\N	\N	EFO	0	EFO	Hyperplastic polyposis syndrome	Hyperplastic polyposis syndrome
EFO:0000536	Orphanet:157798	\N	"An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." []	Orphanet:157798	"" []	215274	\N	\N	EFO	1	EFO	hyperplasia	Hyperplastic polyposis syndrome
Orphanet:140162	Orphanet:157798	\N	"" []	Orphanet:157798	"" []	215275	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Hyperplastic polyposis syndrome
Orphanet:363314	Orphanet:157798	\N	"" []	Orphanet:157798	"" []	215276	\N	\N	EFO	1	EFO	Genetic intestinal polyposis	Hyperplastic polyposis syndrome
EFO:0000408	EFO:0000536	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157798	"" []	569425	\N	\N	EFO	2	EFO	disease	Hyperplastic polyposis syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157798	"" []	569426	\N	\N	EFO	2	EFO	genetic disorder	Hyperplastic polyposis syndrome
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:157798	"" []	569427	\N	\N	EFO	2	EFO	Genetic intestinal disease	Hyperplastic polyposis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157798	"" []	4066859	\N	\N	EFO	6	EFO	disposition	Hyperplastic polyposis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157798	"" []	3184095	\N	\N	EFO	5	EFO	disease	Hyperplastic polyposis syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:157798	"" []	1151231	\N	\N	EFO	3	EFO	digestive system disease	Hyperplastic polyposis syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:157798	"" []	1151232	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Hyperplastic polyposis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157798	"" []	5028390	\N	\N	EFO	7	EFO	material property	Hyperplastic polyposis syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157798	"" []	2033594	\N	\N	EFO	4	EFO	disease	Hyperplastic polyposis syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157798	"" []	2033595	\N	\N	EFO	4	EFO	genetic disorder	Hyperplastic polyposis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157798	"" []	5817496	\N	\N	EFO	8	EFO	experimental factor	Hyperplastic polyposis syndrome
Orphanet:1578	\N	\N	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	73751	\N	\N	EFO	0	EFO	Dehydratase deficiency	Dehydratase deficiency
Orphanet:238583	Orphanet:1578	\N	"" []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	215277	\N	\N	EFO	1	EFO	Hyperphenylalaninemia	Dehydratase deficiency
Orphanet:309819	Orphanet:238583	\N	"" []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	569428	\N	\N	EFO	2	EFO	Disorder of pterin metabolism	Dehydratase deficiency
Orphanet:68385	Orphanet:238583	\N	"" []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	569429	\N	\N	EFO	2	EFO	Neurometabolic disease	Dehydratase deficiency
Orphanet:79169	Orphanet:309819	\N	"" []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	1151233	\N	\N	EFO	3	EFO	Disorder of neurotransmitter metabolism and transport	Dehydratase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	1151234	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Dehydratase deficiency
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	2033596	\N	\N	EFO	4	EFO	Disorder of biogenic amine metabolism and transport	Dehydratase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	2033597	\N	\N	EFO	4	EFO	genetic disorder	Dehydratase deficiency
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	3184096	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Dehydratase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	5410805	\N	\N	EFO	7	EFO	disease	Dehydratase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	4391823	\N	\N	EFO	6	EFO	genetic disorder	Dehydratase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	4391824	\N	\N	EFO	6	EFO	metabolic disease	Dehydratase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	5876813	\N	\N	EFO	8	EFO	disposition	Dehydratase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	5410806	\N	\N	EFO	7	EFO	disease	Dehydratase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	6470023	\N	\N	EFO	9	EFO	material property	Dehydratase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1578	"Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." []	6848311	\N	\N	EFO	10	EFO	experimental factor	Dehydratase deficiency
Orphanet:157801	\N	\N	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	73752	\N	\N	EFO	0	EFO	Mesoaxial synostotic syndactyly with phalangeal reduction	Mesoaxial synostotic syndactyly with phalangeal reduction
Orphanet:90025	Orphanet:157801	\N	"" []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	215278	\N	\N	EFO	1	EFO	Syndactyly	Mesoaxial synostotic syndactyly with phalangeal reduction
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	569430	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Mesoaxial synostotic syndactyly with phalangeal reduction
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	1151235	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Mesoaxial synostotic syndactyly with phalangeal reduction
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	1151236	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Mesoaxial synostotic syndactyly with phalangeal reduction
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	2033598	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Mesoaxial synostotic syndactyly with phalangeal reduction
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	2033599	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Mesoaxial synostotic syndactyly with phalangeal reduction
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	3184098	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mesoaxial synostotic syndactyly with phalangeal reduction
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	3184099	\N	\N	EFO	5	EFO	Rare genetic bone disease	Mesoaxial synostotic syndactyly with phalangeal reduction
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	3184100	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Mesoaxial synostotic syndactyly with phalangeal reduction
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	5410810	\N	\N	EFO	7	EFO	genetic disorder	Mesoaxial synostotic syndactyly with phalangeal reduction
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	4391827	\N	\N	EFO	6	EFO	genetic disorder	Mesoaxial synostotic syndactyly with phalangeal reduction
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	4391828	\N	\N	EFO	6	EFO	bone disease	Mesoaxial synostotic syndactyly with phalangeal reduction
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	4391829	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Mesoaxial synostotic syndactyly with phalangeal reduction
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	5997052	\N	\N	EFO	8	EFO	disease	Mesoaxial synostotic syndactyly with phalangeal reduction
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	5410809	\N	\N	EFO	7	EFO	skeletal system disease	Mesoaxial synostotic syndactyly with phalangeal reduction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	6550601	\N	\N	EFO	9	EFO	disposition	Mesoaxial synostotic syndactyly with phalangeal reduction
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	6148361	\N	\N	EFO	8	EFO	disease	Mesoaxial synostotic syndactyly with phalangeal reduction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	6889055	\N	\N	EFO	10	EFO	material property	Mesoaxial synostotic syndactyly with phalangeal reduction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157801	"Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." []	7085904	\N	\N	EFO	11	EFO	experimental factor	Mesoaxial synostotic syndactyly with phalangeal reduction
Orphanet:157808	\N	\N	"" []	Orphanet:157808	"" []	73753	\N	\N	EFO	0	EFO	Congenital pseudoarthrosis of the limbs	Congenital pseudoarthrosis of the limbs
Orphanet:109011	Orphanet:157808	\N	"" []	Orphanet:157808	"" []	215279	\N	\N	EFO	1	EFO	Non-syndromic limb malformation	Congenital pseudoarthrosis of the limbs
Orphanet:404571	Orphanet:157808	\N	"" []	Orphanet:157808	"" []	215280	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital pseudoarthrosis of the limbs
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:157808	"" []	569431	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Congenital pseudoarthrosis of the limbs
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:157808	"" []	569432	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Congenital pseudoarthrosis of the limbs
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:157808	"" []	1151237	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of the limbs
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:157808	"" []	1151238	\N	\N	EFO	3	EFO	Rare genetic bone disease	Congenital pseudoarthrosis of the limbs
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:157808	"" []	1151239	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Congenital pseudoarthrosis of the limbs
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157808	"" []	3184103	\N	\N	EFO	5	EFO	genetic disorder	Congenital pseudoarthrosis of the limbs
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157808	"" []	2033601	\N	\N	EFO	4	EFO	genetic disorder	Congenital pseudoarthrosis of the limbs
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:157808	"" []	2033602	\N	\N	EFO	4	EFO	bone disease	Congenital pseudoarthrosis of the limbs
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:157808	"" []	2033603	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of the limbs
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157808	"" []	4133344	\N	\N	EFO	6	EFO	disease	Congenital pseudoarthrosis of the limbs
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:157808	"" []	3184102	\N	\N	EFO	5	EFO	skeletal system disease	Congenital pseudoarthrosis of the limbs
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157808	"" []	5181678	\N	\N	EFO	7	EFO	disposition	Congenital pseudoarthrosis of the limbs
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157808	"" []	4391831	\N	\N	EFO	6	EFO	disease	Congenital pseudoarthrosis of the limbs
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157808	"" []	5997053	\N	\N	EFO	8	EFO	material property	Congenital pseudoarthrosis of the limbs
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157808	"" []	6550602	\N	\N	EFO	9	EFO	experimental factor	Congenital pseudoarthrosis of the limbs
Orphanet:157820	\N	\N	"" []	Orphanet:157820	"" []	73754	\N	\N	EFO	0	EFO	Cold-induced sweating syndrome	Cold-induced sweating syndrome
Orphanet:401993	Orphanet:157820	\N	"" []	Orphanet:157820	"" []	215281	\N	\N	EFO	1	EFO	Cold-induced sweating syndrome-hyperthermia spectrum	Cold-induced sweating syndrome
Orphanet:140477	Orphanet:401993	\N	"" []	Orphanet:157820	"" []	569433	\N	\N	EFO	2	EFO	Autosomal recessive hereditary sensory and autonomic neuropathy	Cold-induced sweating syndrome
Orphanet:140471	Orphanet:140477	\N	"" []	Orphanet:157820	"" []	1151240	\N	\N	EFO	3	EFO	Hereditary sensory and autonomic neuropathy	Cold-induced sweating syndrome
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:157820	"" []	2033604	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Cold-induced sweating syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:157820	"" []	3184104	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Cold-induced sweating syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157820	"" []	4391832	\N	\N	EFO	6	EFO	genetic disorder	Cold-induced sweating syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157820	"" []	5410812	\N	\N	EFO	7	EFO	disease	Cold-induced sweating syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157820	"" []	6148363	\N	\N	EFO	8	EFO	disposition	Cold-induced sweating syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157820	"" []	6632166	\N	\N	EFO	9	EFO	material property	Cold-induced sweating syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157820	"" []	6925416	\N	\N	EFO	10	EFO	experimental factor	Cold-induced sweating syndrome
Orphanet:157846	\N	\N	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	73755	\N	\N	EFO	0	EFO	Neuroferritinopathy	Neuroferritinopathy
Orphanet:158266	Orphanet:157846	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	215282	\N	\N	EFO	1	EFO	Huntington disease-like syndrome	Neuroferritinopathy
Orphanet:309842	Orphanet:157846	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	215283	\N	\N	EFO	1	EFO	Disorder of iron metabolism and transport	Neuroferritinopathy
Orphanet:385	Orphanet:157846	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	215284	\N	\N	EFO	1	EFO	Neurodegeneration with brain iron accumulation	Neuroferritinopathy
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	569434	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Neuroferritinopathy
Orphanet:309836	Orphanet:309842	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	569435	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Neuroferritinopathy
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	569436	\N	\N	EFO	2	EFO	Genetic dementia	Neuroferritinopathy
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	569437	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Neuroferritinopathy
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	569438	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Neuroferritinopathy
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	569439	\N	\N	EFO	2	EFO	Neurometabolic disease	Neuroferritinopathy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	1151241	\N	\N	EFO	3	EFO	neurodegenerative disease	Neuroferritinopathy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	1151242	\N	\N	EFO	3	EFO	brain disease	Neuroferritinopathy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	1151243	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neuroferritinopathy
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	1151244	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Neuroferritinopathy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	1151245	\N	\N	EFO	3	EFO	brain disease	Neuroferritinopathy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	1151246	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neuroferritinopathy
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	1151247	\N	\N	EFO	3	EFO	neurodegenerative disease	Neuroferritinopathy
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	1151248	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Neuroferritinopathy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	1151249	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neuroferritinopathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	2033605	\N	\N	EFO	4	EFO	nervous system disease	Neuroferritinopathy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	2033606	\N	\N	EFO	4	EFO	nervous system disease	Neuroferritinopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	3184110	\N	\N	EFO	5	EFO	genetic disorder	Neuroferritinopathy
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	2033608	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Neuroferritinopathy
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	2033609	\N	\N	EFO	4	EFO	movement disorder	Neuroferritinopathy
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	2033610	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Neuroferritinopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	4391835	\N	\N	EFO	6	EFO	disease	Neuroferritinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	4133345	\N	\N	EFO	6	EFO	disease	Neuroferritinopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	3184107	\N	\N	EFO	5	EFO	genetic disorder	Neuroferritinopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	3184108	\N	\N	EFO	5	EFO	metabolic disease	Neuroferritinopathy
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	3184109	\N	\N	EFO	5	EFO	nervous system disease	Neuroferritinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	5181679	\N	\N	EFO	7	EFO	disposition	Neuroferritinopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	4391834	\N	\N	EFO	6	EFO	disease	Neuroferritinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	5997054	\N	\N	EFO	8	EFO	material property	Neuroferritinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157846	"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." []	6550603	\N	\N	EFO	9	EFO	experimental factor	Neuroferritinopathy
Orphanet:157850	\N	\N	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	73756	\N	\N	EFO	0	EFO	Pantothenate kinase-associated neurodegeneration	Pantothenate kinase-associated neurodegeneration
EFO:0005596	Orphanet:157850	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	215285	\N	\N	EFO	1	EFO	vitamin metabolic disorder	Pantothenate kinase-associated neurodegeneration
Orphanet:263440	Orphanet:157850	\N	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	215286	\N	\N	EFO	1	EFO	Neuroacanthocytosis	Pantothenate kinase-associated neurodegeneration
Orphanet:309833	Orphanet:157850	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	215287	\N	\N	EFO	1	EFO	Disorder of other vitamins and cofactors metabolism and transport	Pantothenate kinase-associated neurodegeneration
Orphanet:352306	Orphanet:157850	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	215288	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Pantothenate kinase-associated neurodegeneration
Orphanet:385	Orphanet:157850	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	215289	\N	\N	EFO	1	EFO	Neurodegeneration with brain iron accumulation	Pantothenate kinase-associated neurodegeneration
Orphanet:98661	Orphanet:157850	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	215290	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Pantothenate kinase-associated neurodegeneration
Orphanet:98713	Orphanet:157850	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	215291	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Pantothenate kinase-associated neurodegeneration
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	569440	\N	\N	EFO	2	EFO	metabolic disease	Pantothenate kinase-associated neurodegeneration
Orphanet:158266	Orphanet:263440	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	569441	\N	\N	EFO	2	EFO	Huntington disease-like syndrome	Pantothenate kinase-associated neurodegeneration
Orphanet:307058	Orphanet:263440	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	569442	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Pantothenate kinase-associated neurodegeneration
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	569443	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Pantothenate kinase-associated neurodegeneration
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	569444	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Pantothenate kinase-associated neurodegeneration
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	569445	\N	\N	EFO	2	EFO	Genetic dementia	Pantothenate kinase-associated neurodegeneration
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	569446	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Pantothenate kinase-associated neurodegeneration
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	569447	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Pantothenate kinase-associated neurodegeneration
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	569448	\N	\N	EFO	2	EFO	Neurometabolic disease	Pantothenate kinase-associated neurodegeneration
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	569449	\N	\N	EFO	2	EFO	Retinal dystrophy	Pantothenate kinase-associated neurodegeneration
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	569450	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Pantothenate kinase-associated neurodegeneration
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	4391838	\N	\N	EFO	6	EFO	disease	Pantothenate kinase-associated neurodegeneration
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	1151251	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Pantothenate kinase-associated neurodegeneration
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	1151252	\N	\N	EFO	3	EFO	neurodegenerative disease	Pantothenate kinase-associated neurodegeneration
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	1151253	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Pantothenate kinase-associated neurodegeneration
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	1151254	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Pantothenate kinase-associated neurodegeneration
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	1151255	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Pantothenate kinase-associated neurodegeneration
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	1151256	\N	\N	EFO	3	EFO	brain disease	Pantothenate kinase-associated neurodegeneration
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	1151257	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pantothenate kinase-associated neurodegeneration
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	2033612	\N	\N	EFO	4	EFO	neurodegenerative disease	Pantothenate kinase-associated neurodegeneration
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	2033613	\N	\N	EFO	4	EFO	brain disease	Pantothenate kinase-associated neurodegeneration
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	2033614	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Pantothenate kinase-associated neurodegeneration
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	1151261	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pantothenate kinase-associated neurodegeneration
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	1151262	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Pantothenate kinase-associated neurodegeneration
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	1151263	\N	\N	EFO	3	EFO	Rare genetic eye disease	Pantothenate kinase-associated neurodegeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	5028391	\N	\N	EFO	7	EFO	disposition	Pantothenate kinase-associated neurodegeneration
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	3000141	\N	\N	EFO	5	EFO	nervous system disease	Pantothenate kinase-associated neurodegeneration
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	2033616	\N	\N	EFO	4	EFO	movement disorder	Pantothenate kinase-associated neurodegeneration
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	2033617	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Pantothenate kinase-associated neurodegeneration
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	2033618	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Pantothenate kinase-associated neurodegeneration
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	2033619	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Pantothenate kinase-associated neurodegeneration
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	3000142	\N	\N	EFO	5	EFO	nervous system disease	Pantothenate kinase-associated neurodegeneration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	3000143	\N	\N	EFO	5	EFO	genetic disorder	Pantothenate kinase-associated neurodegeneration
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	2033622	\N	\N	EFO	4	EFO	Rare genetic eye disease	Pantothenate kinase-associated neurodegeneration
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	3184117	\N	\N	EFO	5	EFO	genetic disorder	Pantothenate kinase-associated neurodegeneration
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	3184118	\N	\N	EFO	5	EFO	eye disease	Pantothenate kinase-associated neurodegeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	5817497	\N	\N	EFO	8	EFO	material property	Pantothenate kinase-associated neurodegeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	4133346	\N	\N	EFO	6	EFO	disease	Pantothenate kinase-associated neurodegeneration
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	3184113	\N	\N	EFO	5	EFO	nervous system disease	Pantothenate kinase-associated neurodegeneration
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	3184114	\N	\N	EFO	5	EFO	genetic disorder	Pantothenate kinase-associated neurodegeneration
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	3184115	\N	\N	EFO	5	EFO	metabolic disease	Pantothenate kinase-associated neurodegeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	4133347	\N	\N	EFO	6	EFO	disease	Pantothenate kinase-associated neurodegeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	4133348	\N	\N	EFO	6	EFO	disease	Pantothenate kinase-associated neurodegeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157850	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	6409858	\N	\N	EFO	9	EFO	experimental factor	Pantothenate kinase-associated neurodegeneration
Orphanet:157941	\N	\N	"" []	Orphanet:157941	"" []	73757	\N	\N	EFO	0	EFO	Huntington disease-like 1	Huntington disease-like 1
Orphanet:306719	Orphanet:157941	\N	"" []	Orphanet:157941	"" []	215292	\N	\N	EFO	1	EFO	Neurodegenerative disease with chorea	Huntington disease-like 1
EFO:0005772	Orphanet:306719	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:157941	"" []	569451	\N	\N	EFO	2	EFO	neurodegenerative disease	Huntington disease-like 1
Orphanet:183521	Orphanet:306719	\N	"" []	Orphanet:157941	"" []	569452	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Huntington disease-like 1
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:157941	"" []	1151264	\N	\N	EFO	3	EFO	nervous system disease	Huntington disease-like 1
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:157941	"" []	1151265	\N	\N	EFO	3	EFO	movement disorder	Huntington disease-like 1
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:157941	"" []	1151266	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Huntington disease-like 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157941	"" []	3184121	\N	\N	EFO	5	EFO	disease	Huntington disease-like 1
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:157941	"" []	2033626	\N	\N	EFO	4	EFO	nervous system disease	Huntington disease-like 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157941	"" []	2033627	\N	\N	EFO	4	EFO	genetic disorder	Huntington disease-like 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157941	"" []	4133349	\N	\N	EFO	6	EFO	disposition	Huntington disease-like 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157941	"" []	3184122	\N	\N	EFO	5	EFO	disease	Huntington disease-like 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157941	"" []	5181680	\N	\N	EFO	7	EFO	material property	Huntington disease-like 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157941	"" []	5997055	\N	\N	EFO	8	EFO	experimental factor	Huntington disease-like 1
Orphanet:157946	\N	\N	"" []	Orphanet:157946	"" []	73758	\N	\N	EFO	0	EFO	Huntington disease-like 3	Huntington disease-like 3
Orphanet:158266	Orphanet:157946	\N	"" []	Orphanet:157946	"" []	215293	\N	\N	EFO	1	EFO	Huntington disease-like syndrome	Huntington disease-like 3
Orphanet:307058	Orphanet:157946	\N	"" []	Orphanet:157946	"" []	215294	\N	\N	EFO	1	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Huntington disease-like 3
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:157946	"" []	569453	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Huntington disease-like 3
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:157946	"" []	569454	\N	\N	EFO	2	EFO	neurodegenerative disease	Huntington disease-like 3
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:157946	"" []	569455	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Huntington disease-like 3
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:157946	"" []	1151267	\N	\N	EFO	3	EFO	neurodegenerative disease	Huntington disease-like 3
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:157946	"" []	1151268	\N	\N	EFO	3	EFO	brain disease	Huntington disease-like 3
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:157946	"" []	1151269	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Huntington disease-like 3
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:157946	"" []	2033628	\N	\N	EFO	4	EFO	nervous system disease	Huntington disease-like 3
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:157946	"" []	1151271	\N	\N	EFO	3	EFO	movement disorder	Huntington disease-like 3
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:157946	"" []	1151272	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Huntington disease-like 3
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:157946	"" []	2033629	\N	\N	EFO	4	EFO	nervous system disease	Huntington disease-like 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157946	"" []	2033630	\N	\N	EFO	4	EFO	genetic disorder	Huntington disease-like 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157946	"" []	3000144	\N	\N	EFO	5	EFO	disease	Huntington disease-like 3
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:157946	"" []	2033632	\N	\N	EFO	4	EFO	nervous system disease	Huntington disease-like 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157946	"" []	3184123	\N	\N	EFO	5	EFO	disease	Huntington disease-like 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157946	"" []	4133350	\N	\N	EFO	6	EFO	disposition	Huntington disease-like 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157946	"" []	5181681	\N	\N	EFO	7	EFO	material property	Huntington disease-like 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157946	"" []	5997056	\N	\N	EFO	8	EFO	experimental factor	Huntington disease-like 3
Orphanet:157949	\N	\N	"" []	Orphanet:157949	"" []	73759	\N	\N	EFO	0	EFO	Combined immunodeficiency with skin granulomas	Combined immunodeficiency with skin granulomas
Orphanet:101972	Orphanet:157949	\N	"" []	Orphanet:157949	"" []	215295	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Combined immunodeficiency with skin granulomas
Orphanet:183494	Orphanet:157949	\N	"" []	Orphanet:157949	"" []	215296	\N	\N	EFO	1	EFO	Genetic immune deficiency with skin involvement	Combined immunodeficiency with skin granulomas
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:157949	"" []	569456	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined immunodeficiency with skin granulomas
Orphanet:68346	Orphanet:183494	\N	"" []	Orphanet:157949	"" []	569457	\N	\N	EFO	2	EFO	Rare genetic skin disease	Combined immunodeficiency with skin granulomas
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:157949	"" []	1151273	\N	\N	EFO	3	EFO	Primary immunodeficiency	Combined immunodeficiency with skin granulomas
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157949	"" []	1151274	\N	\N	EFO	3	EFO	genetic disorder	Combined immunodeficiency with skin granulomas
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:157949	"" []	1151275	\N	\N	EFO	3	EFO	skin disease	Combined immunodeficiency with skin granulomas
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:157949	"" []	2033633	\N	\N	EFO	4	EFO	Rare genetic immune disease	Combined immunodeficiency with skin granulomas
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157949	"" []	4391841	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency with skin granulomas
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157949	"" []	2033635	\N	\N	EFO	4	EFO	disease	Combined immunodeficiency with skin granulomas
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157949	"" []	3184125	\N	\N	EFO	5	EFO	genetic disorder	Combined immunodeficiency with skin granulomas
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:157949	"" []	3184126	\N	\N	EFO	5	EFO	immune system disease	Combined immunodeficiency with skin granulomas
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157949	"" []	5059639	\N	\N	EFO	7	EFO	disposition	Combined immunodeficiency with skin granulomas
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157949	"" []	4391842	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency with skin granulomas
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157949	"" []	5876815	\N	\N	EFO	8	EFO	material property	Combined immunodeficiency with skin granulomas
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157949	"" []	6470024	\N	\N	EFO	9	EFO	experimental factor	Combined immunodeficiency with skin granulomas
Orphanet:157954	\N	\N	"" []	Orphanet:157954	"" []	73760	\N	\N	EFO	0	EFO	ANE syndrome	ANE syndrome
Orphanet:181387	Orphanet:157954	\N	"" []	Orphanet:157954	"" []	215297	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	ANE syndrome
Orphanet:183763	Orphanet:157954	\N	"" []	Orphanet:157954	"" []	215298	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	ANE syndrome
Orphanet:79364	Orphanet:157954	\N	"" []	Orphanet:157954	"" []	215299	\N	\N	EFO	1	EFO	Alopecia	ANE syndrome
Orphanet:95495	Orphanet:157954	\N	"" []	Orphanet:157954	"" []	215300	\N	\N	EFO	1	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	ANE syndrome
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:157954	"" []	569458	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	ANE syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:157954	"" []	569459	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	ANE syndrome
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:157954	"" []	569460	\N	\N	EFO	2	EFO	Genetic hair anomaly	ANE syndrome
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:157954	"" []	569461	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	ANE syndrome
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:157954	"" []	1151276	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	ANE syndrome
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:157954	"" []	1151277	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	ANE syndrome
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:157954	"" []	1151278	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	ANE syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:157954	"" []	1151279	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	ANE syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:157954	"" []	1151280	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	ANE syndrome
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:157954	"" []	1151281	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	ANE syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:157954	"" []	2033636	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	ANE syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:157954	"" []	2033637	\N	\N	EFO	4	EFO	Rare genetic male infertility	ANE syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:157954	"" []	2033638	\N	\N	EFO	4	EFO	Pituitary deficiency	ANE syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157954	"" []	2033639	\N	\N	EFO	4	EFO	genetic disorder	ANE syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:157954	"" []	2033640	\N	\N	EFO	4	EFO	Rare genetic skin disease	ANE syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157954	"" []	3184128	\N	\N	EFO	5	EFO	genetic disorder	ANE syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:157954	"" []	3184129	\N	\N	EFO	5	EFO	reproductive system disease	ANE syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:157954	"" []	3184130	\N	\N	EFO	5	EFO	Genetic infertility	ANE syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:157954	"" []	3184131	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	ANE syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157954	"" []	6148365	\N	\N	EFO	8	EFO	disease	ANE syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157954	"" []	3184133	\N	\N	EFO	5	EFO	genetic disorder	ANE syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:157954	"" []	3184134	\N	\N	EFO	5	EFO	skin disease	ANE syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157954	"" []	5410818	\N	\N	EFO	7	EFO	disease	ANE syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157954	"" []	4391846	\N	\N	EFO	6	EFO	genetic disorder	ANE syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:157954	"" []	4391847	\N	\N	EFO	6	EFO	reproductive system disease	ANE syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:157954	"" []	4391848	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	ANE syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157954	"" []	6409859	\N	\N	EFO	9	EFO	disposition	ANE syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157954	"" []	4391850	\N	\N	EFO	6	EFO	disease	ANE syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157954	"" []	5410819	\N	\N	EFO	7	EFO	genetic disorder	ANE syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:157954	"" []	5410820	\N	\N	EFO	7	EFO	endocrine system disease	ANE syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157954	"" []	6807710	\N	\N	EFO	10	EFO	material property	ANE syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157954	"" []	6148366	\N	\N	EFO	8	EFO	disease	ANE syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157954	"" []	7048555	\N	\N	EFO	11	EFO	experimental factor	ANE syndrome
Orphanet:157962	\N	\N	"" []	Orphanet:157962	"" []	73761	\N	\N	EFO	0	EFO	Oculoauricular syndrome, Schorderet type	Oculoauricular syndrome, Schorderet type
Orphanet:98554	Orphanet:157962	\N	"" []	Orphanet:157962	"" []	215301	\N	\N	EFO	1	EFO	Major induction processes eye anomaly	Oculoauricular syndrome, Schorderet type
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:157962	"" []	569462	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Oculoauricular syndrome, Schorderet type
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:157962	"" []	1151282	\N	\N	EFO	3	EFO	Rare genetic eye disease	Oculoauricular syndrome, Schorderet type
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:157962	"" []	1151283	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculoauricular syndrome, Schorderet type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157962	"" []	2033641	\N	\N	EFO	4	EFO	genetic disorder	Oculoauricular syndrome, Schorderet type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:157962	"" []	2033642	\N	\N	EFO	4	EFO	eye disease	Oculoauricular syndrome, Schorderet type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157962	"" []	2033643	\N	\N	EFO	4	EFO	genetic disorder	Oculoauricular syndrome, Schorderet type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157962	"" []	3184135	\N	\N	EFO	5	EFO	disease	Oculoauricular syndrome, Schorderet type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157962	"" []	3184136	\N	\N	EFO	5	EFO	disease	Oculoauricular syndrome, Schorderet type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157962	"" []	4391851	\N	\N	EFO	6	EFO	disposition	Oculoauricular syndrome, Schorderet type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157962	"" []	5410822	\N	\N	EFO	7	EFO	material property	Oculoauricular syndrome, Schorderet type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157962	"" []	6148368	\N	\N	EFO	8	EFO	experimental factor	Oculoauricular syndrome, Schorderet type
Orphanet:157965	\N	\N	"" []	Orphanet:157965	"" []	73762	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, spondylocheirodysplastic type	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:253	Orphanet:157965	\N	"" []	Orphanet:157965	"" []	215302	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:98249	Orphanet:157965	\N	"" []	Orphanet:157965	"" []	215303	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:157965	"" []	569463	\N	\N	EFO	2	EFO	Primary bone dysplasia	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:157965	"" []	569464	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:157965	"" []	569465	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:157965	"" []	569466	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:157965	"" []	569467	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:157965	"" []	1151284	\N	\N	EFO	3	EFO	Rare genetic bone disease	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:157965	"" []	1151285	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:157965	"" []	1151286	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:157965	"" []	1151287	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:157965	"" []	1151288	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, spondylocheirodysplastic type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157965	"" []	1151289	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, spondylocheirodysplastic type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157965	"" []	2033644	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, spondylocheirodysplastic type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:157965	"" []	2033645	\N	\N	EFO	4	EFO	bone disease	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:157965	"" []	2033646	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, spondylocheirodysplastic type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157965	"" []	3184139	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:157965	"" []	2033648	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, spondylocheirodysplastic type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157965	"" []	4133351	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, spondylocheirodysplastic type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:157965	"" []	3184138	\N	\N	EFO	5	EFO	skeletal system disease	Ehlers-Danlos syndrome, spondylocheirodysplastic type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157965	"" []	3184140	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, spondylocheirodysplastic type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:157965	"" []	3184141	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, spondylocheirodysplastic type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157965	"" []	5059640	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, spondylocheirodysplastic type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157965	"" []	4391852	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, spondylocheirodysplastic type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157965	"" []	4391853	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, spondylocheirodysplastic type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157965	"" []	5876817	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, spondylocheirodysplastic type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157965	"" []	6470026	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, spondylocheirodysplastic type
Orphanet:157973	\N	\N	"" []	Orphanet:157973	"" []	73763	\N	\N	EFO	0	EFO	Congenital muscular dystrophy due to LMNA mutation	Congenital muscular dystrophy due to LMNA mutation
Orphanet:97242	Orphanet:157973	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:157973	"" []	215304	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy due to LMNA mutation
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:157973	"" []	569468	\N	\N	EFO	2	EFO	Muscular dystrophy	Congenital muscular dystrophy due to LMNA mutation
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:157973	"" []	1151290	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy due to LMNA mutation
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:157973	"" []	2033650	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy due to LMNA mutation
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:157973	"" []	3184143	\N	\N	EFO	5	EFO	muscular disease	Congenital muscular dystrophy due to LMNA mutation
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:157973	"" []	3184144	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy due to LMNA mutation
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:157973	"" []	4391855	\N	\N	EFO	6	EFO	skeletal system disease	Congenital muscular dystrophy due to LMNA mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:157973	"" []	4391856	\N	\N	EFO	6	EFO	genetic disorder	Congenital muscular dystrophy due to LMNA mutation
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157973	"" []	5410824	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy due to LMNA mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:157973	"" []	5410825	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy due to LMNA mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:157973	"" []	6148369	\N	\N	EFO	8	EFO	disposition	Congenital muscular dystrophy due to LMNA mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:157973	"" []	6632167	\N	\N	EFO	9	EFO	material property	Congenital muscular dystrophy due to LMNA mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:157973	"" []	6925417	\N	\N	EFO	10	EFO	experimental factor	Congenital muscular dystrophy due to LMNA mutation
Orphanet:158	\N	\N	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	73764	\N	\N	EFO	0	EFO	Systemic primary carnitine deficiency	Systemic primary carnitine deficiency
Orphanet:206953	Orphanet:158	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	215305	\N	\N	EFO	1	EFO	Muscular lipidosis	Systemic primary carnitine deficiency
Orphanet:217616	Orphanet:158	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	215306	\N	\N	EFO	1	EFO	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy	Systemic primary carnitine deficiency
Orphanet:309130	Orphanet:158	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	215307	\N	\N	EFO	1	EFO	Disorder of carnitine cycle and carnitine transport	Systemic primary carnitine deficiency
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	569469	\N	\N	EFO	2	EFO	Metabolic myopathy	Systemic primary carnitine deficiency
Orphanet:217607	Orphanet:217616	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	569470	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Systemic primary carnitine deficiency
Orphanet:79174	Orphanet:309130	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	569471	\N	\N	EFO	2	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Systemic primary carnitine deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	1151291	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Systemic primary carnitine deficiency
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	1151292	\N	\N	EFO	3	EFO	cardiomyopathy	Systemic primary carnitine deficiency
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	1151293	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Systemic primary carnitine deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	1151294	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Systemic primary carnitine deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	2033651	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Systemic primary carnitine deficiency
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	2033652	\N	\N	EFO	4	EFO	heart disease	Systemic primary carnitine deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	2033653	\N	\N	EFO	4	EFO	genetic disorder	Systemic primary carnitine deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	2033654	\N	\N	EFO	4	EFO	heart disease	Systemic primary carnitine deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	2033655	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Systemic primary carnitine deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	3184145	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Systemic primary carnitine deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	3184146	\N	\N	EFO	5	EFO	cardiovascular disease	Systemic primary carnitine deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	6148371	\N	\N	EFO	8	EFO	disease	Systemic primary carnitine deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	3184148	\N	\N	EFO	5	EFO	genetic disorder	Systemic primary carnitine deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	3184149	\N	\N	EFO	5	EFO	metabolic disease	Systemic primary carnitine deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	4391857	\N	\N	EFO	6	EFO	muscular disease	Systemic primary carnitine deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	4391858	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Systemic primary carnitine deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	4391859	\N	\N	EFO	6	EFO	disease	Systemic primary carnitine deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	6409860	\N	\N	EFO	9	EFO	disposition	Systemic primary carnitine deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	4391862	\N	\N	EFO	6	EFO	disease	Systemic primary carnitine deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	5410826	\N	\N	EFO	7	EFO	skeletal system disease	Systemic primary carnitine deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	5410827	\N	\N	EFO	7	EFO	genetic disorder	Systemic primary carnitine deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	6807711	\N	\N	EFO	10	EFO	material property	Systemic primary carnitine deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	6148370	\N	\N	EFO	8	EFO	disease	Systemic primary carnitine deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158	"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." []	7048556	\N	\N	EFO	11	EFO	experimental factor	Systemic primary carnitine deficiency
Orphanet:1580	\N	\N	"" []	Orphanet:1580	"" []	73765	\N	\N	EFO	0	EFO	Distal monosomy 10p	Distal monosomy 10p
Orphanet:261938	Orphanet:1580	\N	"" []	Orphanet:1580	"" []	215308	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 10	Distal monosomy 10p
Orphanet:261811	Orphanet:261938	\N	"" []	Orphanet:1580	"" []	569472	\N	\N	EFO	2	EFO	Partial deletion of chromosome 10	Distal monosomy 10p
Orphanet:98142	Orphanet:261811	\N	"" []	Orphanet:1580	"" []	1151295	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 10p
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1580	"" []	2033656	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 10p
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1580	"" []	3184150	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 10p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1580	"" []	4391863	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 10p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1580	"" []	5410829	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 10p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1580	"" []	6148373	\N	\N	EFO	8	EFO	disease	Distal monosomy 10p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1580	"" []	6632168	\N	\N	EFO	9	EFO	disposition	Distal monosomy 10p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1580	"" []	6925418	\N	\N	EFO	10	EFO	material property	Distal monosomy 10p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1580	"" []	7099011	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 10p
Orphanet:158029	\N	\N	"Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. " []	Orphanet:158029	"Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. " []	73766	\N	\N	EFO	0	EFO	Sea-blue histiocytosis	Sea-blue histiocytosis
Orphanet:79225	Orphanet:158029	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:158029	"Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. " []	215309	\N	\N	EFO	1	EFO	Sphingolipidosis	Sea-blue histiocytosis
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:158029	"Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. " []	569473	\N	\N	EFO	2	EFO	Lysosomal disease	Sea-blue histiocytosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:158029	"Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. " []	1151296	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Sea-blue histiocytosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158029	"Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. " []	2033657	\N	\N	EFO	4	EFO	genetic disorder	Sea-blue histiocytosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:158029	"Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. " []	2033658	\N	\N	EFO	4	EFO	metabolic disease	Sea-blue histiocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158029	"Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. " []	3184151	\N	\N	EFO	5	EFO	disease	Sea-blue histiocytosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158029	"Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. " []	3184152	\N	\N	EFO	5	EFO	disease	Sea-blue histiocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158029	"Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. " []	4391864	\N	\N	EFO	6	EFO	disposition	Sea-blue histiocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158029	"Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. " []	5410830	\N	\N	EFO	7	EFO	material property	Sea-blue histiocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158029	"Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. " []	6148374	\N	\N	EFO	8	EFO	experimental factor	Sea-blue histiocytosis
Orphanet:158038	\N	\N	"" []	Orphanet:158038	"" []	73767	\N	\N	EFO	0	EFO	Primary hemophagocytic lymphohistiocytosis	Primary hemophagocytic lymphohistiocytosis
Orphanet:169361	Orphanet:158038	\N	"" []	Orphanet:158038	"" []	215310	\N	\N	EFO	1	EFO	Immune dysregulation disease with immunodeficiency	Primary hemophagocytic lymphohistiocytosis
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:158038	"" []	569474	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Primary hemophagocytic lymphohistiocytosis
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:158038	"" []	1151297	\N	\N	EFO	3	EFO	Primary immunodeficiency	Primary hemophagocytic lymphohistiocytosis
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:158038	"" []	2033659	\N	\N	EFO	4	EFO	Rare genetic immune disease	Primary hemophagocytic lymphohistiocytosis
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158038	"" []	3184153	\N	\N	EFO	5	EFO	genetic disorder	Primary hemophagocytic lymphohistiocytosis
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:158038	"" []	3184154	\N	\N	EFO	5	EFO	immune system disease	Primary hemophagocytic lymphohistiocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158038	"" []	4391865	\N	\N	EFO	6	EFO	disease	Primary hemophagocytic lymphohistiocytosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158038	"" []	4391866	\N	\N	EFO	6	EFO	disease	Primary hemophagocytic lymphohistiocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158038	"" []	5410831	\N	\N	EFO	7	EFO	disposition	Primary hemophagocytic lymphohistiocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158038	"" []	6148375	\N	\N	EFO	8	EFO	material property	Primary hemophagocytic lymphohistiocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158038	"" []	6632169	\N	\N	EFO	9	EFO	experimental factor	Primary hemophagocytic lymphohistiocytosis
Orphanet:1581	\N	\N	"" []	Orphanet:1581	"" []	73768	\N	\N	EFO	0	EFO	Non-distal monosomy 10q	Non-distal monosomy 10q
Orphanet:262083	Orphanet:1581	\N	"" []	Orphanet:1581	"" []	215311	\N	\N	EFO	1	EFO	Partial monosomy of the long arm of chromosome 10	Non-distal monosomy 10q
Orphanet:261811	Orphanet:262083	\N	"" []	Orphanet:1581	"" []	569475	\N	\N	EFO	2	EFO	Partial deletion of chromosome 10	Non-distal monosomy 10q
Orphanet:98142	Orphanet:261811	\N	"" []	Orphanet:1581	"" []	1151298	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Non-distal monosomy 10q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1581	"" []	2033660	\N	\N	EFO	4	EFO	Autosomal monosomy	Non-distal monosomy 10q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1581	"" []	3184155	\N	\N	EFO	5	EFO	Autosomal anomaly	Non-distal monosomy 10q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1581	"" []	4391867	\N	\N	EFO	6	EFO	Chromosomal anomaly	Non-distal monosomy 10q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1581	"" []	5410832	\N	\N	EFO	7	EFO	genetic disorder	Non-distal monosomy 10q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1581	"" []	6148376	\N	\N	EFO	8	EFO	disease	Non-distal monosomy 10q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1581	"" []	6632170	\N	\N	EFO	9	EFO	disposition	Non-distal monosomy 10q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1581	"" []	6925419	\N	\N	EFO	10	EFO	material property	Non-distal monosomy 10q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1581	"" []	7099012	\N	\N	EFO	11	EFO	experimental factor	Non-distal monosomy 10q
Orphanet:158124	\N	\N	"" []	Orphanet:158124	"" []	73769	\N	\N	EFO	0	EFO	Genetic dementia	Genetic dementia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:158124	"" []	215312	\N	\N	EFO	1	EFO	brain disease	Genetic dementia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:158124	"" []	215313	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Genetic dementia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:158124	"" []	569476	\N	\N	EFO	2	EFO	nervous system disease	Genetic dementia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158124	"" []	569477	\N	\N	EFO	2	EFO	genetic disorder	Genetic dementia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158124	"" []	1151299	\N	\N	EFO	3	EFO	disease	Genetic dementia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158124	"" []	1151300	\N	\N	EFO	3	EFO	disease	Genetic dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158124	"" []	2033661	\N	\N	EFO	4	EFO	disposition	Genetic dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158124	"" []	3184156	\N	\N	EFO	5	EFO	material property	Genetic dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158124	"" []	4391868	\N	\N	EFO	6	EFO	experimental factor	Genetic dementia
Orphanet:158266	\N	\N	"" []	Orphanet:158266	"" []	73770	\N	\N	EFO	0	EFO	Huntington disease-like syndrome	Huntington disease-like syndrome
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:158266	"" []	215314	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Huntington disease-like syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:158266	"" []	569478	\N	\N	EFO	2	EFO	neurodegenerative disease	Huntington disease-like syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:158266	"" []	569479	\N	\N	EFO	2	EFO	brain disease	Huntington disease-like syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:158266	"" []	569480	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Huntington disease-like syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:158266	"" []	1151301	\N	\N	EFO	3	EFO	nervous system disease	Huntington disease-like syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:158266	"" []	1151302	\N	\N	EFO	3	EFO	nervous system disease	Huntington disease-like syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158266	"" []	1151303	\N	\N	EFO	3	EFO	genetic disorder	Huntington disease-like syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158266	"" []	2033662	\N	\N	EFO	4	EFO	disease	Huntington disease-like syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158266	"" []	2033663	\N	\N	EFO	4	EFO	disease	Huntington disease-like syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158266	"" []	3184157	\N	\N	EFO	5	EFO	disposition	Huntington disease-like syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158266	"" []	4391869	\N	\N	EFO	6	EFO	material property	Huntington disease-like syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158266	"" []	5410833	\N	\N	EFO	7	EFO	experimental factor	Huntington disease-like syndrome
Orphanet:158300	\N	\N	"" []	Orphanet:158300	"" []	73771	\N	\N	EFO	0	EFO	Rare genetic hematologic disease	Rare genetic hematologic disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158300	"" []	215315	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic hematologic disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:158300	"" []	215316	\N	\N	EFO	1	EFO	hematological system disease	Rare genetic hematologic disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158300	"" []	569481	\N	\N	EFO	2	EFO	disease	Rare genetic hematologic disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158300	"" []	569482	\N	\N	EFO	2	EFO	disease	Rare genetic hematologic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158300	"" []	1151304	\N	\N	EFO	3	EFO	disposition	Rare genetic hematologic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158300	"" []	2033664	\N	\N	EFO	4	EFO	material property	Rare genetic hematologic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158300	"" []	3184158	\N	\N	EFO	5	EFO	experimental factor	Rare genetic hematologic disease
Orphanet:158661	\N	\N	"" []	Orphanet:158661	"" []	73772	\N	\N	EFO	0	EFO	Suprabasal epidermolysis bullosa simplex	Suprabasal epidermolysis bullosa simplex
Orphanet:304	Orphanet:158661	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:158661	"" []	215317	\N	\N	EFO	1	EFO	Epidermolysis bullosa simplex	Suprabasal epidermolysis bullosa simplex
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:158661	"" []	569483	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Suprabasal epidermolysis bullosa simplex
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:158661	"" []	1151305	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Suprabasal epidermolysis bullosa simplex
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:158661	"" []	2033665	\N	\N	EFO	4	EFO	Rare genetic skin disease	Suprabasal epidermolysis bullosa simplex
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158661	"" []	3184159	\N	\N	EFO	5	EFO	genetic disorder	Suprabasal epidermolysis bullosa simplex
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:158661	"" []	3184160	\N	\N	EFO	5	EFO	skin disease	Suprabasal epidermolysis bullosa simplex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158661	"" []	4391870	\N	\N	EFO	6	EFO	disease	Suprabasal epidermolysis bullosa simplex
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158661	"" []	4391871	\N	\N	EFO	6	EFO	disease	Suprabasal epidermolysis bullosa simplex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158661	"" []	5410834	\N	\N	EFO	7	EFO	disposition	Suprabasal epidermolysis bullosa simplex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158661	"" []	6148377	\N	\N	EFO	8	EFO	material property	Suprabasal epidermolysis bullosa simplex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158661	"" []	6632171	\N	\N	EFO	9	EFO	experimental factor	Suprabasal epidermolysis bullosa simplex
Orphanet:158665	\N	\N	"" []	Orphanet:158665	"" []	73773	\N	\N	EFO	0	EFO	Basal epidermolysis bullosa simplex	Basal epidermolysis bullosa simplex
Orphanet:304	Orphanet:158665	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:158665	"" []	215318	\N	\N	EFO	1	EFO	Epidermolysis bullosa simplex	Basal epidermolysis bullosa simplex
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:158665	"" []	569484	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Basal epidermolysis bullosa simplex
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:158665	"" []	1151306	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Basal epidermolysis bullosa simplex
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:158665	"" []	2033666	\N	\N	EFO	4	EFO	Rare genetic skin disease	Basal epidermolysis bullosa simplex
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158665	"" []	3184161	\N	\N	EFO	5	EFO	genetic disorder	Basal epidermolysis bullosa simplex
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:158665	"" []	3184162	\N	\N	EFO	5	EFO	skin disease	Basal epidermolysis bullosa simplex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158665	"" []	4391872	\N	\N	EFO	6	EFO	disease	Basal epidermolysis bullosa simplex
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158665	"" []	4391873	\N	\N	EFO	6	EFO	disease	Basal epidermolysis bullosa simplex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158665	"" []	5410835	\N	\N	EFO	7	EFO	disposition	Basal epidermolysis bullosa simplex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158665	"" []	6148378	\N	\N	EFO	8	EFO	material property	Basal epidermolysis bullosa simplex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158665	"" []	6632172	\N	\N	EFO	9	EFO	experimental factor	Basal epidermolysis bullosa simplex
Orphanet:158668	\N	\N	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	73774	\N	\N	EFO	0	EFO	Epidermolysis bullosa simplex due to plakophilin deficiency	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:158661	Orphanet:158668	\N	"" []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	215319	\N	\N	EFO	1	EFO	Suprabasal epidermolysis bullosa simplex	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:263676	Orphanet:158668	\N	"" []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	215320	\N	\N	EFO	1	EFO	Hereditary epidermolysis bullosa associated with ocular features	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:79373	Orphanet:158668	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	215321	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:304	Orphanet:158661	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	569485	\N	\N	EFO	2	EFO	Epidermolysis bullosa simplex	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:98696	Orphanet:263676	\N	"" []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	569486	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	569487	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	569488	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	1151307	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	1151308	\N	\N	EFO	3	EFO	Rare genetic eye disease	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	1151309	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	1151310	\N	\N	EFO	3	EFO	Rare genetic skin disease	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	2033667	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Epidermolysis bullosa simplex due to plakophilin deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	2033668	\N	\N	EFO	4	EFO	genetic disorder	Epidermolysis bullosa simplex due to plakophilin deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	2033669	\N	\N	EFO	4	EFO	eye disease	Epidermolysis bullosa simplex due to plakophilin deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	2033670	\N	\N	EFO	4	EFO	genetic disorder	Epidermolysis bullosa simplex due to plakophilin deficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	4391874	\N	\N	EFO	6	EFO	genetic disorder	Epidermolysis bullosa simplex due to plakophilin deficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	4391875	\N	\N	EFO	6	EFO	skin disease	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	3184163	\N	\N	EFO	5	EFO	Rare genetic skin disease	Epidermolysis bullosa simplex due to plakophilin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	5059641	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex due to plakophilin deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	3184165	\N	\N	EFO	5	EFO	disease	Epidermolysis bullosa simplex due to plakophilin deficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	5059642	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex due to plakophilin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	5876818	\N	\N	EFO	8	EFO	disposition	Epidermolysis bullosa simplex due to plakophilin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	6470027	\N	\N	EFO	9	EFO	material property	Epidermolysis bullosa simplex due to plakophilin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158668	"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." []	6848313	\N	\N	EFO	10	EFO	experimental factor	Epidermolysis bullosa simplex due to plakophilin deficiency
Orphanet:158673	\N	\N	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	73775	\N	\N	EFO	0	EFO	Acral dystrophic epidermolysis bullosa	Acral dystrophic epidermolysis bullosa
Orphanet:303	Orphanet:158673	\N	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	215322	\N	\N	EFO	1	EFO	Dystrophic epidermolysis bullosa	Acral dystrophic epidermolysis bullosa
Orphanet:139027	Orphanet:303	\N	"" []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	569489	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Acral dystrophic epidermolysis bullosa
Orphanet:79361	Orphanet:303	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	569490	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Acral dystrophic epidermolysis bullosa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	1151311	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acral dystrophic epidermolysis bullosa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	1151312	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Acral dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	2033673	\N	\N	EFO	4	EFO	genetic disorder	Acral dystrophic epidermolysis bullosa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	2033674	\N	\N	EFO	4	EFO	Rare genetic skin disease	Acral dystrophic epidermolysis bullosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	4391878	\N	\N	EFO	6	EFO	disease	Acral dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	3184168	\N	\N	EFO	5	EFO	genetic disorder	Acral dystrophic epidermolysis bullosa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	3184169	\N	\N	EFO	5	EFO	skin disease	Acral dystrophic epidermolysis bullosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	5181685	\N	\N	EFO	7	EFO	disposition	Acral dystrophic epidermolysis bullosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	4391879	\N	\N	EFO	6	EFO	disease	Acral dystrophic epidermolysis bullosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	5997060	\N	\N	EFO	8	EFO	material property	Acral dystrophic epidermolysis bullosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158673	"Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." []	6550606	\N	\N	EFO	9	EFO	experimental factor	Acral dystrophic epidermolysis bullosa
Orphanet:158676	\N	\N	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	73776	\N	\N	EFO	0	EFO	Dystrophic epidermolysis bullosa, nails only	Dystrophic epidermolysis bullosa, nails only
Orphanet:303	Orphanet:158676	\N	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	215323	\N	\N	EFO	1	EFO	Dystrophic epidermolysis bullosa	Dystrophic epidermolysis bullosa, nails only
Orphanet:139027	Orphanet:303	\N	"" []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	569491	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Dystrophic epidermolysis bullosa, nails only
Orphanet:79361	Orphanet:303	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	569492	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Dystrophic epidermolysis bullosa, nails only
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	1151313	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dystrophic epidermolysis bullosa, nails only
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	1151314	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Dystrophic epidermolysis bullosa, nails only
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	2033675	\N	\N	EFO	4	EFO	genetic disorder	Dystrophic epidermolysis bullosa, nails only
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	2033676	\N	\N	EFO	4	EFO	Rare genetic skin disease	Dystrophic epidermolysis bullosa, nails only
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	4391881	\N	\N	EFO	6	EFO	disease	Dystrophic epidermolysis bullosa, nails only
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	3184171	\N	\N	EFO	5	EFO	genetic disorder	Dystrophic epidermolysis bullosa, nails only
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	3184172	\N	\N	EFO	5	EFO	skin disease	Dystrophic epidermolysis bullosa, nails only
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	5181686	\N	\N	EFO	7	EFO	disposition	Dystrophic epidermolysis bullosa, nails only
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	4391882	\N	\N	EFO	6	EFO	disease	Dystrophic epidermolysis bullosa, nails only
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	5997061	\N	\N	EFO	8	EFO	material property	Dystrophic epidermolysis bullosa, nails only
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158676	"Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." []	6550607	\N	\N	EFO	9	EFO	experimental factor	Dystrophic epidermolysis bullosa, nails only
Orphanet:158681	\N	\N	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	73777	\N	\N	EFO	0	EFO	Epidermolysis bullosa simplex with circinate migratory erythema	Epidermolysis bullosa simplex with circinate migratory erythema
Orphanet:158665	Orphanet:158681	\N	"" []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	215324	\N	\N	EFO	1	EFO	Basal epidermolysis bullosa simplex	Epidermolysis bullosa simplex with circinate migratory erythema
Orphanet:304	Orphanet:158665	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	569493	\N	\N	EFO	2	EFO	Epidermolysis bullosa simplex	Epidermolysis bullosa simplex with circinate migratory erythema
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	1151315	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Epidermolysis bullosa simplex with circinate migratory erythema
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	2033677	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Epidermolysis bullosa simplex with circinate migratory erythema
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	3184173	\N	\N	EFO	5	EFO	Rare genetic skin disease	Epidermolysis bullosa simplex with circinate migratory erythema
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	4391883	\N	\N	EFO	6	EFO	genetic disorder	Epidermolysis bullosa simplex with circinate migratory erythema
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	4391884	\N	\N	EFO	6	EFO	skin disease	Epidermolysis bullosa simplex with circinate migratory erythema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	5410839	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex with circinate migratory erythema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	5410840	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex with circinate migratory erythema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	6148382	\N	\N	EFO	8	EFO	disposition	Epidermolysis bullosa simplex with circinate migratory erythema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	6632173	\N	\N	EFO	9	EFO	material property	Epidermolysis bullosa simplex with circinate migratory erythema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158681	"Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." []	6925420	\N	\N	EFO	10	EFO	experimental factor	Epidermolysis bullosa simplex with circinate migratory erythema
Orphanet:158684	\N	\N	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	73778	\N	\N	EFO	0	EFO	Epidermolysis bullosa simplex with pyloric atresia	Epidermolysis bullosa simplex with pyloric atresia
Orphanet:158665	Orphanet:158684	\N	"" []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	215325	\N	\N	EFO	1	EFO	Basal epidermolysis bullosa simplex	Epidermolysis bullosa simplex with pyloric atresia
Orphanet:304	Orphanet:158665	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	569494	\N	\N	EFO	2	EFO	Epidermolysis bullosa simplex	Epidermolysis bullosa simplex with pyloric atresia
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	1151316	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Epidermolysis bullosa simplex with pyloric atresia
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	2033678	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Epidermolysis bullosa simplex with pyloric atresia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	3184174	\N	\N	EFO	5	EFO	Rare genetic skin disease	Epidermolysis bullosa simplex with pyloric atresia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	4391885	\N	\N	EFO	6	EFO	genetic disorder	Epidermolysis bullosa simplex with pyloric atresia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	4391886	\N	\N	EFO	6	EFO	skin disease	Epidermolysis bullosa simplex with pyloric atresia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	5410841	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex with pyloric atresia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	5410842	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex with pyloric atresia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	6148383	\N	\N	EFO	8	EFO	disposition	Epidermolysis bullosa simplex with pyloric atresia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	6632174	\N	\N	EFO	9	EFO	material property	Epidermolysis bullosa simplex with pyloric atresia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158684	"Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." []	6925421	\N	\N	EFO	10	EFO	experimental factor	Epidermolysis bullosa simplex with pyloric atresia
Orphanet:158687	\N	\N	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	73779	\N	\N	EFO	0	EFO	Lethal acantholytic epidermolysis bullosa	Lethal acantholytic epidermolysis bullosa
Orphanet:158661	Orphanet:158687	\N	"" []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	215326	\N	\N	EFO	1	EFO	Suprabasal epidermolysis bullosa simplex	Lethal acantholytic epidermolysis bullosa
Orphanet:304	Orphanet:158661	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	569495	\N	\N	EFO	2	EFO	Epidermolysis bullosa simplex	Lethal acantholytic epidermolysis bullosa
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	1151317	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Lethal acantholytic epidermolysis bullosa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	2033679	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Lethal acantholytic epidermolysis bullosa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	3184175	\N	\N	EFO	5	EFO	Rare genetic skin disease	Lethal acantholytic epidermolysis bullosa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	4391887	\N	\N	EFO	6	EFO	genetic disorder	Lethal acantholytic epidermolysis bullosa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	4391888	\N	\N	EFO	6	EFO	skin disease	Lethal acantholytic epidermolysis bullosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	5410843	\N	\N	EFO	7	EFO	disease	Lethal acantholytic epidermolysis bullosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	5410844	\N	\N	EFO	7	EFO	disease	Lethal acantholytic epidermolysis bullosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	6148384	\N	\N	EFO	8	EFO	disposition	Lethal acantholytic epidermolysis bullosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	6632175	\N	\N	EFO	9	EFO	material property	Lethal acantholytic epidermolysis bullosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:158687	"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." []	6925422	\N	\N	EFO	10	EFO	experimental factor	Lethal acantholytic epidermolysis bullosa
Orphanet:1587	\N	\N	"" []	Orphanet:1587	"" []	73780	\N	\N	EFO	0	EFO	Monosomy 13q14	Monosomy 13q14
Orphanet:108987	Orphanet:1587	\N	"" []	Orphanet:1587	"" []	215327	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Monosomy 13q14
Orphanet:262101	Orphanet:1587	\N	"" []	Orphanet:1587	"" []	215328	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 13	Monosomy 13q14
Orphanet:98574	Orphanet:1587	\N	"" []	Orphanet:1587	"" []	215329	\N	\N	EFO	1	EFO	Syndromic epicanthus	Monosomy 13q14
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1587	"" []	569496	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Monosomy 13q14
Orphanet:98142	Orphanet:262101	\N	"" []	Orphanet:1587	"" []	569497	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Monosomy 13q14
Orphanet:98573	Orphanet:98574	\N	"" []	Orphanet:1587	"" []	569498	\N	\N	EFO	2	EFO	Epicanthal fold	Monosomy 13q14
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1587	"" []	1151318	\N	\N	EFO	3	EFO	Rare genetic eye disease	Monosomy 13q14
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1587	"" []	1151319	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Monosomy 13q14
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1587	"" []	1151320	\N	\N	EFO	3	EFO	Autosomal monosomy	Monosomy 13q14
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:1587	"" []	1151321	\N	\N	EFO	3	EFO	Canthal anomaly	Monosomy 13q14
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1587	"" []	5410847	\N	\N	EFO	7	EFO	genetic disorder	Monosomy 13q14
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1587	"" []	5410848	\N	\N	EFO	7	EFO	eye disease	Monosomy 13q14
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1587	"" []	2033682	\N	\N	EFO	4	EFO	genetic disorder	Monosomy 13q14
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1587	"" []	2033683	\N	\N	EFO	4	EFO	Autosomal anomaly	Monosomy 13q14
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:1587	"" []	2033684	\N	\N	EFO	4	EFO	Rare palpebral disease	Monosomy 13q14
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1587	"" []	5817498	\N	\N	EFO	8	EFO	disease	Monosomy 13q14
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1587	"" []	5817499	\N	\N	EFO	8	EFO	disease	Monosomy 13q14
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1587	"" []	3184178	\N	\N	EFO	5	EFO	Chromosomal anomaly	Monosomy 13q14
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1587	"" []	3184179	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Monosomy 13q14
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1587	"" []	6409861	\N	\N	EFO	9	EFO	disposition	Monosomy 13q14
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1587	"" []	4391890	\N	\N	EFO	6	EFO	genetic disorder	Monosomy 13q14
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1587	"" []	4391891	\N	\N	EFO	6	EFO	Rare genetic eye disease	Monosomy 13q14
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1587	"" []	6807712	\N	\N	EFO	10	EFO	material property	Monosomy 13q14
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1587	"" []	7048557	\N	\N	EFO	11	EFO	experimental factor	Monosomy 13q14
Orphanet:159	\N	\N	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	73781	\N	\N	EFO	0	EFO	Carnitine-acylcarnitine translocase deficiency	Carnitine-acylcarnitine translocase deficiency
Orphanet:217591	Orphanet:159	\N	"" []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	215330	\N	\N	EFO	1	EFO	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Carnitine-acylcarnitine translocase deficiency
Orphanet:309130	Orphanet:159	\N	"" []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	215331	\N	\N	EFO	1	EFO	Disorder of carnitine cycle and carnitine transport	Carnitine-acylcarnitine translocase deficiency
Orphanet:99739	Orphanet:217591	\N	"" []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	569499	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Carnitine-acylcarnitine translocase deficiency
Orphanet:79174	Orphanet:309130	\N	"" []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	569500	\N	\N	EFO	2	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Carnitine-acylcarnitine translocase deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	1151322	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Carnitine-acylcarnitine translocase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	1151323	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Carnitine-acylcarnitine translocase deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	2033685	\N	\N	EFO	4	EFO	genetic disorder	Carnitine-acylcarnitine translocase deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	2033686	\N	\N	EFO	4	EFO	heart disease	Carnitine-acylcarnitine translocase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	2033687	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Carnitine-acylcarnitine translocase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	4391894	\N	\N	EFO	6	EFO	disease	Carnitine-acylcarnitine translocase deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	3184181	\N	\N	EFO	5	EFO	cardiovascular disease	Carnitine-acylcarnitine translocase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	3184182	\N	\N	EFO	5	EFO	genetic disorder	Carnitine-acylcarnitine translocase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	3184183	\N	\N	EFO	5	EFO	metabolic disease	Carnitine-acylcarnitine translocase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	5181687	\N	\N	EFO	7	EFO	disposition	Carnitine-acylcarnitine translocase deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	4391893	\N	\N	EFO	6	EFO	disease	Carnitine-acylcarnitine translocase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	4391895	\N	\N	EFO	6	EFO	disease	Carnitine-acylcarnitine translocase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	5997062	\N	\N	EFO	8	EFO	material property	Carnitine-acylcarnitine translocase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:159	"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." []	6550608	\N	\N	EFO	9	EFO	experimental factor	Carnitine-acylcarnitine translocase deficiency
Orphanet:1590	\N	\N	"" []	Orphanet:1590	"" []	73782	\N	\N	EFO	0	EFO	Distal monosomy 13q	Distal monosomy 13q
Orphanet:117573	Orphanet:1590	\N	"" []	Orphanet:1590	"" []	215332	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Distal monosomy 13q
Orphanet:262101	Orphanet:1590	\N	"" []	Orphanet:1590	"" []	215333	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 13	Distal monosomy 13q
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:1590	"" []	569501	\N	\N	EFO	2	EFO	Anorectal malformation	Distal monosomy 13q
Orphanet:98142	Orphanet:262101	\N	"" []	Orphanet:1590	"" []	569502	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Distal monosomy 13q
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:1590	"" []	1151324	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Distal monosomy 13q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1590	"" []	1151325	\N	\N	EFO	3	EFO	Autosomal monosomy	Distal monosomy 13q
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1590	"" []	2033688	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Distal monosomy 13q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1590	"" []	2033689	\N	\N	EFO	4	EFO	Autosomal anomaly	Distal monosomy 13q
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1590	"" []	3184184	\N	\N	EFO	5	EFO	genetic disorder	Distal monosomy 13q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1590	"" []	3184185	\N	\N	EFO	5	EFO	Chromosomal anomaly	Distal monosomy 13q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1590	"" []	5410851	\N	\N	EFO	7	EFO	disease	Distal monosomy 13q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1590	"" []	4391897	\N	\N	EFO	6	EFO	genetic disorder	Distal monosomy 13q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1590	"" []	5997063	\N	\N	EFO	8	EFO	disposition	Distal monosomy 13q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1590	"" []	6550609	\N	\N	EFO	9	EFO	material property	Distal monosomy 13q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1590	"" []	6889056	\N	\N	EFO	10	EFO	experimental factor	Distal monosomy 13q
Orphanet:1596	\N	\N	"" []	Orphanet:1596	"" []	73783	\N	\N	EFO	0	EFO	Distal monosomy 15q	Distal monosomy 15q
Orphanet:262119	Orphanet:1596	\N	"" []	Orphanet:1596	"" []	215334	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 15	Distal monosomy 15q
Orphanet:98142	Orphanet:262119	\N	"" []	Orphanet:1596	"" []	569503	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Distal monosomy 15q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1596	"" []	1151326	\N	\N	EFO	3	EFO	Autosomal monosomy	Distal monosomy 15q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1596	"" []	2033690	\N	\N	EFO	4	EFO	Autosomal anomaly	Distal monosomy 15q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1596	"" []	3184186	\N	\N	EFO	5	EFO	Chromosomal anomaly	Distal monosomy 15q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1596	"" []	4391898	\N	\N	EFO	6	EFO	genetic disorder	Distal monosomy 15q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1596	"" []	5410852	\N	\N	EFO	7	EFO	disease	Distal monosomy 15q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1596	"" []	6148388	\N	\N	EFO	8	EFO	disposition	Distal monosomy 15q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1596	"" []	6632177	\N	\N	EFO	9	EFO	material property	Distal monosomy 15q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1596	"" []	6925423	\N	\N	EFO	10	EFO	experimental factor	Distal monosomy 15q
Orphanet:1597	\N	\N	"" []	Orphanet:1597	"" []	73784	\N	\N	EFO	0	EFO	Distal monosomy 17q	Distal monosomy 17q
Orphanet:262137	Orphanet:1597	\N	"" []	Orphanet:1597	"" []	215335	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 17	Distal monosomy 17q
Orphanet:261831	Orphanet:262137	\N	"" []	Orphanet:1597	"" []	569504	\N	\N	EFO	2	EFO	Partial deletion of chromosome 17	Distal monosomy 17q
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:1597	"" []	1151327	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 17q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1597	"" []	2033691	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 17q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1597	"" []	3184187	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 17q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1597	"" []	4391899	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 17q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1597	"" []	5410853	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 17q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1597	"" []	6148389	\N	\N	EFO	8	EFO	disease	Distal monosomy 17q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1597	"" []	6632178	\N	\N	EFO	9	EFO	disposition	Distal monosomy 17q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1597	"" []	6925424	\N	\N	EFO	10	EFO	material property	Distal monosomy 17q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1597	"" []	7099013	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 17q
Orphanet:1598	\N	\N	"" []	Orphanet:1598	"" []	73785	\N	\N	EFO	0	EFO	Monosomy 18p	Monosomy 18p
Orphanet:261974	Orphanet:1598	\N	"" []	Orphanet:1598	"" []	215336	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 18	Monosomy 18p
Orphanet:261836	Orphanet:261974	\N	"" []	Orphanet:1598	"" []	569505	\N	\N	EFO	2	EFO	Partial deletion of chromosome 18	Monosomy 18p
Orphanet:98142	Orphanet:261836	\N	"" []	Orphanet:1598	"" []	1151328	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Monosomy 18p
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1598	"" []	2033692	\N	\N	EFO	4	EFO	Autosomal monosomy	Monosomy 18p
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1598	"" []	3184188	\N	\N	EFO	5	EFO	Autosomal anomaly	Monosomy 18p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1598	"" []	4391900	\N	\N	EFO	6	EFO	Chromosomal anomaly	Monosomy 18p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1598	"" []	5410854	\N	\N	EFO	7	EFO	genetic disorder	Monosomy 18p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1598	"" []	6148390	\N	\N	EFO	8	EFO	disease	Monosomy 18p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1598	"" []	6632179	\N	\N	EFO	9	EFO	disposition	Monosomy 18p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1598	"" []	6925425	\N	\N	EFO	10	EFO	material property	Monosomy 18p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1598	"" []	7099014	\N	\N	EFO	11	EFO	experimental factor	Monosomy 18p
Orphanet:16	\N	\N	"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." []	Orphanet:16	"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." []	73786	\N	\N	EFO	0	EFO	Blue cone monochromatism	Blue cone monochromatism
Orphanet:98658	Orphanet:16	\N	"" []	Orphanet:16	"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." []	215337	\N	\N	EFO	1	EFO	Color-vision disease	Blue cone monochromatism
Orphanet:98657	Orphanet:98658	\N	"" []	Orphanet:16	"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." []	569506	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Blue cone monochromatism
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:16	"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." []	1151329	\N	\N	EFO	3	EFO	Rare genetic eye disease	Blue cone monochromatism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:16	"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." []	2033693	\N	\N	EFO	4	EFO	genetic disorder	Blue cone monochromatism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:16	"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." []	2033694	\N	\N	EFO	4	EFO	eye disease	Blue cone monochromatism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:16	"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." []	3184189	\N	\N	EFO	5	EFO	disease	Blue cone monochromatism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:16	"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." []	3184190	\N	\N	EFO	5	EFO	disease	Blue cone monochromatism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:16	"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." []	4391901	\N	\N	EFO	6	EFO	disposition	Blue cone monochromatism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:16	"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." []	5410855	\N	\N	EFO	7	EFO	material property	Blue cone monochromatism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:16	"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." []	6148391	\N	\N	EFO	8	EFO	experimental factor	Blue cone monochromatism
Orphanet:1600	\N	\N	"" []	Orphanet:1600	"" []	73787	\N	\N	EFO	0	EFO	Monosomy 18q	Monosomy 18q
Orphanet:156237	Orphanet:1600	\N	"" []	Orphanet:1600	"" []	215338	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Monosomy 18q
Orphanet:262146	Orphanet:1600	\N	"" []	Orphanet:1600	"" []	215339	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 18	Monosomy 18q
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1600	"" []	569507	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Monosomy 18q
Orphanet:261836	Orphanet:262146	\N	"" []	Orphanet:1600	"" []	569508	\N	\N	EFO	2	EFO	Partial deletion of chromosome 18	Monosomy 18q
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1600	"" []	1151330	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Monosomy 18q
Orphanet:98142	Orphanet:261836	\N	"" []	Orphanet:1600	"" []	1151331	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Monosomy 18q
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1600	"" []	2033695	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Monosomy 18q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1600	"" []	2033696	\N	\N	EFO	4	EFO	Autosomal monosomy	Monosomy 18q
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1600	"" []	3184191	\N	\N	EFO	5	EFO	genetic disorder	Monosomy 18q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1600	"" []	3184192	\N	\N	EFO	5	EFO	Autosomal anomaly	Monosomy 18q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1600	"" []	6148393	\N	\N	EFO	8	EFO	disease	Monosomy 18q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1600	"" []	4391903	\N	\N	EFO	6	EFO	Chromosomal anomaly	Monosomy 18q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1600	"" []	6470029	\N	\N	EFO	9	EFO	disposition	Monosomy 18q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1600	"" []	5410857	\N	\N	EFO	7	EFO	genetic disorder	Monosomy 18q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1600	"" []	6848315	\N	\N	EFO	10	EFO	material property	Monosomy 18q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1600	"" []	7068383	\N	\N	EFO	11	EFO	experimental factor	Monosomy 18q
Orphanet:1606	\N	\N	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	73788	\N	\N	EFO	0	EFO	1p36 deletion syndrome	1p36 deletion syndrome
Orphanet:217619	Orphanet:1606	\N	"" []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	215340	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	1p36 deletion syndrome
Orphanet:261857	Orphanet:1606	\N	"" []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	215341	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 1	1p36 deletion syndrome
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	569509	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	1p36 deletion syndrome
Orphanet:261766	Orphanet:261857	\N	"" []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	569510	\N	\N	EFO	2	EFO	Partial deletion of chromosome 1	1p36 deletion syndrome
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	1151332	\N	\N	EFO	3	EFO	cardiomyopathy	1p36 deletion syndrome
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	1151333	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	1p36 deletion syndrome
Orphanet:98142	Orphanet:261766	\N	"" []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	1151334	\N	\N	EFO	3	EFO	Partial autosomal monosomy	1p36 deletion syndrome
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	2033697	\N	\N	EFO	4	EFO	heart disease	1p36 deletion syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	2033698	\N	\N	EFO	4	EFO	genetic disorder	1p36 deletion syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	2033699	\N	\N	EFO	4	EFO	heart disease	1p36 deletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	2033700	\N	\N	EFO	4	EFO	Autosomal monosomy	1p36 deletion syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	3184193	\N	\N	EFO	5	EFO	cardiovascular disease	1p36 deletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	6148395	\N	\N	EFO	8	EFO	disease	1p36 deletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	3184195	\N	\N	EFO	5	EFO	Autosomal anomaly	1p36 deletion syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	4391904	\N	\N	EFO	6	EFO	disease	1p36 deletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	6409862	\N	\N	EFO	9	EFO	disposition	1p36 deletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	4391906	\N	\N	EFO	6	EFO	Chromosomal anomaly	1p36 deletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	6807713	\N	\N	EFO	10	EFO	material property	1p36 deletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	5410860	\N	\N	EFO	7	EFO	genetic disorder	1p36 deletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1606	"1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." []	7048558	\N	\N	EFO	11	EFO	experimental factor	1p36 deletion syndrome
Orphanet:1617	\N	\N	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	Orphanet:1617	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	73789	\N	\N	EFO	0	EFO	2q24 microdeletion syndrome	2q24 microdeletion syndrome
Orphanet:262010	Orphanet:1617	\N	"" []	Orphanet:1617	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	215342	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 2	2q24 microdeletion syndrome
Orphanet:261771	Orphanet:262010	\N	"" []	Orphanet:1617	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	569511	\N	\N	EFO	2	EFO	Partial deletion of chromosome 2	2q24 microdeletion syndrome
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:1617	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	1151335	\N	\N	EFO	3	EFO	Partial autosomal monosomy	2q24 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1617	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	2033701	\N	\N	EFO	4	EFO	Autosomal monosomy	2q24 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1617	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	3184196	\N	\N	EFO	5	EFO	Autosomal anomaly	2q24 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1617	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	4391907	\N	\N	EFO	6	EFO	Chromosomal anomaly	2q24 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1617	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	5410861	\N	\N	EFO	7	EFO	genetic disorder	2q24 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1617	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	6148396	\N	\N	EFO	8	EFO	disease	2q24 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1617	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	6632181	\N	\N	EFO	9	EFO	disposition	2q24 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1617	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	6925426	\N	\N	EFO	10	EFO	material property	2q24 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1617	"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." []	7099015	\N	\N	EFO	11	EFO	experimental factor	2q24 microdeletion syndrome
Orphanet:162	\N	\N	"" []	Orphanet:162	"" []	73790	\N	\N	EFO	0	EFO	Cataract-glaucoma	Cataract-glaucoma
Orphanet:108985	Orphanet:162	\N	"" []	Orphanet:162	"" []	215343	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Cataract-glaucoma
Orphanet:98558	Orphanet:162	\N	"" []	Orphanet:162	"" []	215344	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	Cataract-glaucoma
Orphanet:98641	Orphanet:162	\N	"" []	Orphanet:162	"" []	215345	\N	\N	EFO	1	EFO	Syndromic cataract	Cataract-glaucoma
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:162	"" []	569512	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Cataract-glaucoma
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:162	"" []	569513	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Cataract-glaucoma
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:162	"" []	569514	\N	\N	EFO	2	EFO	Rare cataract	Cataract-glaucoma
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:162	"" []	1151336	\N	\N	EFO	3	EFO	Rare genetic eye disease	Cataract-glaucoma
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:162	"" []	1151337	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract-glaucoma
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:162	"" []	1151338	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Cataract-glaucoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:162	"" []	3184199	\N	\N	EFO	5	EFO	genetic disorder	Cataract-glaucoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:162	"" []	3184200	\N	\N	EFO	5	EFO	eye disease	Cataract-glaucoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:162	"" []	2033704	\N	\N	EFO	4	EFO	genetic disorder	Cataract-glaucoma
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:162	"" []	2033705	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cataract-glaucoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:162	"" []	4133353	\N	\N	EFO	6	EFO	disease	Cataract-glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:162	"" []	4133354	\N	\N	EFO	6	EFO	disease	Cataract-glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:162	"" []	5181688	\N	\N	EFO	7	EFO	disposition	Cataract-glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:162	"" []	5997065	\N	\N	EFO	8	EFO	material property	Cataract-glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:162	"" []	6550611	\N	\N	EFO	9	EFO	experimental factor	Cataract-glaucoma
Orphanet:1620	\N	\N	"" []	Orphanet:1620	"" []	73791	\N	\N	EFO	0	EFO	Distal monosomy 3p	Distal monosomy 3p
Orphanet:261875	Orphanet:1620	\N	"" []	Orphanet:1620	"" []	215346	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 3	Distal monosomy 3p
Orphanet:293642	Orphanet:1620	\N	"" []	Orphanet:1620	"" []	215347	\N	\N	EFO	1	EFO	Blepharophimosis-intellectual disability syndrome	Distal monosomy 3p
Orphanet:261776	Orphanet:261875	\N	"" []	Orphanet:1620	"" []	569515	\N	\N	EFO	2	EFO	Partial deletion of chromosome 3	Distal monosomy 3p
Orphanet:102283	Orphanet:293642	\N	"" []	Orphanet:1620	"" []	569516	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Distal monosomy 3p
Orphanet:183763	Orphanet:293642	\N	"" []	Orphanet:1620	"" []	569517	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Distal monosomy 3p
Orphanet:98142	Orphanet:261776	\N	"" []	Orphanet:1620	"" []	1151339	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 3p
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1620	"" []	1151340	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Distal monosomy 3p
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1620	"" []	1151341	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Distal monosomy 3p
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1620	"" []	2033706	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 3p
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1620	"" []	2033707	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Distal monosomy 3p
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1620	"" []	2033708	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Distal monosomy 3p
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1620	"" []	3184201	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 3p
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1620	"" []	3184202	\N	\N	EFO	5	EFO	genetic disorder	Distal monosomy 3p
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1620	"" []	3184203	\N	\N	EFO	5	EFO	genetic disorder	Distal monosomy 3p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1620	"" []	4391909	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 3p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1620	"" []	6148398	\N	\N	EFO	8	EFO	disease	Distal monosomy 3p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1620	"" []	5410863	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 3p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1620	"" []	6470030	\N	\N	EFO	9	EFO	disposition	Distal monosomy 3p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1620	"" []	6848316	\N	\N	EFO	10	EFO	material property	Distal monosomy 3p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1620	"" []	7068384	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 3p
Orphanet:1621	\N	\N	"" []	Orphanet:1621	"" []	73792	\N	\N	EFO	0	EFO	3q13 microdeletion syndrome	3q13 microdeletion syndrome
Orphanet:262019	Orphanet:1621	\N	"" []	Orphanet:1621	"" []	215348	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 3	3q13 microdeletion syndrome
Orphanet:261776	Orphanet:262019	\N	"" []	Orphanet:1621	"" []	569518	\N	\N	EFO	2	EFO	Partial deletion of chromosome 3	3q13 microdeletion syndrome
Orphanet:98142	Orphanet:261776	\N	"" []	Orphanet:1621	"" []	1151342	\N	\N	EFO	3	EFO	Partial autosomal monosomy	3q13 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1621	"" []	2033709	\N	\N	EFO	4	EFO	Autosomal monosomy	3q13 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1621	"" []	3184204	\N	\N	EFO	5	EFO	Autosomal anomaly	3q13 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1621	"" []	4391911	\N	\N	EFO	6	EFO	Chromosomal anomaly	3q13 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1621	"" []	5410865	\N	\N	EFO	7	EFO	genetic disorder	3q13 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1621	"" []	6148400	\N	\N	EFO	8	EFO	disease	3q13 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1621	"" []	6632183	\N	\N	EFO	9	EFO	disposition	3q13 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1621	"" []	6925427	\N	\N	EFO	10	EFO	material property	3q13 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1621	"" []	7099016	\N	\N	EFO	11	EFO	experimental factor	3q13 microdeletion syndrome
Orphanet:1627	\N	\N	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	Orphanet:1627	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	73793	\N	\N	EFO	0	EFO	Distal monosomy 5q	Distal monosomy 5q
Orphanet:262038	Orphanet:1627	\N	"" []	Orphanet:1627	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	215349	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 5	Distal monosomy 5q
Orphanet:261786	Orphanet:262038	\N	"" []	Orphanet:1627	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	569519	\N	\N	EFO	2	EFO	Partial deletion of chromosome 5	Distal monosomy 5q
Orphanet:98142	Orphanet:261786	\N	"" []	Orphanet:1627	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	1151343	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 5q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1627	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	2033710	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 5q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1627	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	3184205	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 5q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1627	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	4391912	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 5q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1627	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	5410866	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 5q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1627	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	6148401	\N	\N	EFO	8	EFO	disease	Distal monosomy 5q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1627	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	6632184	\N	\N	EFO	9	EFO	disposition	Distal monosomy 5q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1627	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	6925428	\N	\N	EFO	10	EFO	material property	Distal monosomy 5q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1627	"Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." []	7099017	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 5q
Orphanet:163	\N	\N	"" []	Orphanet:163	"" []	73794	\N	\N	EFO	0	EFO	Hereditary hyperferritinemia with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts
Orphanet:98641	Orphanet:163	\N	"" []	Orphanet:163	"" []	215350	\N	\N	EFO	1	EFO	Syndromic cataract	Hereditary hyperferritinemia with congenital cataracts
Orphanet:98712	Orphanet:163	\N	"" []	Orphanet:163	"" []	215351	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Hereditary hyperferritinemia with congenital cataracts
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:163	"" []	569520	\N	\N	EFO	2	EFO	Rare cataract	Hereditary hyperferritinemia with congenital cataracts
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:163	"" []	569521	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Hereditary hyperferritinemia with congenital cataracts
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:163	"" []	1151344	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Hereditary hyperferritinemia with congenital cataracts
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:163	"" []	1151345	\N	\N	EFO	3	EFO	Rare genetic eye disease	Hereditary hyperferritinemia with congenital cataracts
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:163	"" []	2033711	\N	\N	EFO	4	EFO	Rare genetic eye disease	Hereditary hyperferritinemia with congenital cataracts
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163	"" []	3184206	\N	\N	EFO	5	EFO	genetic disorder	Hereditary hyperferritinemia with congenital cataracts
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:163	"" []	3184207	\N	\N	EFO	5	EFO	eye disease	Hereditary hyperferritinemia with congenital cataracts
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163	"" []	4133355	\N	\N	EFO	6	EFO	disease	Hereditary hyperferritinemia with congenital cataracts
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163	"" []	4133356	\N	\N	EFO	6	EFO	disease	Hereditary hyperferritinemia with congenital cataracts
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163	"" []	5181689	\N	\N	EFO	7	EFO	disposition	Hereditary hyperferritinemia with congenital cataracts
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163	"" []	5997066	\N	\N	EFO	8	EFO	material property	Hereditary hyperferritinemia with congenital cataracts
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163	"" []	6550612	\N	\N	EFO	9	EFO	experimental factor	Hereditary hyperferritinemia with congenital cataracts
Orphanet:163209	\N	\N	"" []	Orphanet:163209	"" []	73795	\N	\N	EFO	0	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Non-syndromic cerebral malformation due to abnormal neuronal migration
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:163209	"" []	215352	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Non-syndromic cerebral malformation due to abnormal neuronal migration
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:163209	"" []	215353	\N	\N	EFO	1	EFO	Genetic cerebral malformation	Non-syndromic cerebral malformation due to abnormal neuronal migration
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:163209	"" []	569522	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Non-syndromic cerebral malformation due to abnormal neuronal migration
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:163209	"" []	569523	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Non-syndromic cerebral malformation due to abnormal neuronal migration
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:163209	"" []	1151346	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Non-syndromic cerebral malformation due to abnormal neuronal migration
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:163209	"" []	1151347	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Non-syndromic cerebral malformation due to abnormal neuronal migration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163209	"" []	3184212	\N	\N	EFO	5	EFO	genetic disorder	Non-syndromic cerebral malformation due to abnormal neuronal migration
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:163209	"" []	2033715	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic cerebral malformation due to abnormal neuronal migration
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:163209	"" []	2033716	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Non-syndromic cerebral malformation due to abnormal neuronal migration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163209	"" []	4133357	\N	\N	EFO	6	EFO	disease	Non-syndromic cerebral malformation due to abnormal neuronal migration
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163209	"" []	3184211	\N	\N	EFO	5	EFO	genetic disorder	Non-syndromic cerebral malformation due to abnormal neuronal migration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163209	"" []	5181690	\N	\N	EFO	7	EFO	disposition	Non-syndromic cerebral malformation due to abnormal neuronal migration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163209	"" []	5997067	\N	\N	EFO	8	EFO	material property	Non-syndromic cerebral malformation due to abnormal neuronal migration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163209	"" []	6550613	\N	\N	EFO	9	EFO	experimental factor	Non-syndromic cerebral malformation due to abnormal neuronal migration
Orphanet:163596	\N	\N	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	73796	\N	\N	EFO	0	EFO	Hb Bart's hydrops fetalis	Hb Bart's hydrops fetalis
Orphanet:846	Orphanet:163596	\N	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	215354	\N	\N	EFO	1	EFO	Alpha-thalassemia	Hb Bart's hydrops fetalis
Orphanet:275745	Orphanet:846	\N	"" []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	569524	\N	\N	EFO	2	EFO	Alpha-thalassemia and related diseases	Hb Bart's hydrops fetalis
Orphanet:93614	Orphanet:846	\N	"" []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	569525	\N	\N	EFO	2	EFO	Hematological disorder with renal involvement	Hb Bart's hydrops fetalis
EFO:1001996	Orphanet:275745	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	1151348	\N	\N	EFO	3	EFO	Thalassemia	Hb Bart's hydrops fetalis
EFO:0005803	Orphanet:93614	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	1151349	\N	\N	EFO	3	EFO	hematological system disease	Hb Bart's hydrops fetalis
Orphanet:98056	Orphanet:93614	\N	"" []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	1151350	\N	\N	EFO	3	EFO	Rare genetic renal disease	Hb Bart's hydrops fetalis
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	2033717	\N	\N	EFO	4	EFO	Hemoglobinopathy	Hb Bart's hydrops fetalis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	6148405	\N	\N	EFO	8	EFO	disease	Hb Bart's hydrops fetalis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	2033719	\N	\N	EFO	4	EFO	genetic disorder	Hb Bart's hydrops fetalis
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	3184213	\N	\N	EFO	5	EFO	Rare constitutional anemia	Hb Bart's hydrops fetalis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	6378814	\N	\N	EFO	9	EFO	disposition	Hb Bart's hydrops fetalis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	6148404	\N	\N	EFO	8	EFO	disease	Hb Bart's hydrops fetalis
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	4391915	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Hb Bart's hydrops fetalis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	6778610	\N	\N	EFO	10	EFO	material property	Hb Bart's hydrops fetalis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	5410869	\N	\N	EFO	7	EFO	genetic disorder	Hb Bart's hydrops fetalis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	5410870	\N	\N	EFO	7	EFO	hematological system disease	Hb Bart's hydrops fetalis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163596	"Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." []	7029823	\N	\N	EFO	11	EFO	experimental factor	Hb Bart's hydrops fetalis
Orphanet:1636	\N	\N	"" []	Orphanet:1636	"" []	73797	\N	\N	EFO	0	EFO	Distal monosomy 7q36	Distal monosomy 7q36
Orphanet:262056	Orphanet:1636	\N	"" []	Orphanet:1636	"" []	215355	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 7	Distal monosomy 7q36
Orphanet:261796	Orphanet:262056	\N	"" []	Orphanet:1636	"" []	569526	\N	\N	EFO	2	EFO	Partial deletion of chromosome 7	Distal monosomy 7q36
Orphanet:98142	Orphanet:261796	\N	"" []	Orphanet:1636	"" []	1151351	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 7q36
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1636	"" []	2033720	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 7q36
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1636	"" []	3184216	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 7q36
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1636	"" []	4391918	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 7q36
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1636	"" []	5410872	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 7q36
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1636	"" []	6148406	\N	\N	EFO	8	EFO	disease	Distal monosomy 7q36
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1636	"" []	6632185	\N	\N	EFO	9	EFO	disposition	Distal monosomy 7q36
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1636	"" []	6925429	\N	\N	EFO	10	EFO	material property	Distal monosomy 7q36
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1636	"" []	7099018	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 7q36
Orphanet:163631	\N	\N	"" []	Orphanet:163631	"" []	73798	\N	\N	EFO	0	EFO	Bile acid synthesis defect with cholestasis and malabsorption	Bile acid synthesis defect with cholestasis and malabsorption
Orphanet:284385	Orphanet:163631	\N	"" []	Orphanet:163631	"" []	215356	\N	\N	EFO	1	EFO	Familial intrahepatic cholestasis	Bile acid synthesis defect with cholestasis and malabsorption
Orphanet:79168	Orphanet:163631	\N	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	Orphanet:163631	"" []	215357	\N	\N	EFO	1	EFO	Disorder of bile acid synthesis	Bile acid synthesis defect with cholestasis and malabsorption
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:163631	"" []	569527	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Bile acid synthesis defect with cholestasis and malabsorption
Orphanet:79226	Orphanet:79168	\N	"" []	Orphanet:163631	"" []	569528	\N	\N	EFO	2	EFO	Sterol metabolism disorder	Bile acid synthesis defect with cholestasis and malabsorption
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:163631	"" []	1151352	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Bile acid synthesis defect with cholestasis and malabsorption
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:163631	"" []	1151353	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Bile acid synthesis defect with cholestasis and malabsorption
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:163631	"" []	2033721	\N	\N	EFO	4	EFO	digestive system disease	Bile acid synthesis defect with cholestasis and malabsorption
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163631	"" []	2033722	\N	\N	EFO	4	EFO	genetic disorder	Bile acid synthesis defect with cholestasis and malabsorption
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:163631	"" []	2033723	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Bile acid synthesis defect with cholestasis and malabsorption
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163631	"" []	3184217	\N	\N	EFO	5	EFO	disease	Bile acid synthesis defect with cholestasis and malabsorption
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163631	"" []	4391920	\N	\N	EFO	6	EFO	disease	Bile acid synthesis defect with cholestasis and malabsorption
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163631	"" []	3184219	\N	\N	EFO	5	EFO	genetic disorder	Bile acid synthesis defect with cholestasis and malabsorption
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:163631	"" []	3184220	\N	\N	EFO	5	EFO	metabolic disease	Bile acid synthesis defect with cholestasis and malabsorption
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163631	"" []	5181692	\N	\N	EFO	7	EFO	disposition	Bile acid synthesis defect with cholestasis and malabsorption
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163631	"" []	4391921	\N	\N	EFO	6	EFO	disease	Bile acid synthesis defect with cholestasis and malabsorption
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163631	"" []	5997069	\N	\N	EFO	8	EFO	material property	Bile acid synthesis defect with cholestasis and malabsorption
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163631	"" []	6550614	\N	\N	EFO	9	EFO	experimental factor	Bile acid synthesis defect with cholestasis and malabsorption
Orphanet:163634	\N	\N	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	73799	\N	\N	EFO	0	EFO	Maffucci syndrome	Maffucci syndrome
EFO:0004198	Orphanet:163634	\N	"Tumors or cancer of the SKIN." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	215358	\N	\N	EFO	1	EFO	skin neoplasm	Maffucci syndrome
Orphanet:140162	Orphanet:163634	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	215359	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Maffucci syndrome
Orphanet:183478	Orphanet:163634	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	215360	\N	\N	EFO	1	EFO	Genetic skin vascular disorder	Maffucci syndrome
Orphanet:183527	Orphanet:163634	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	215361	\N	\N	EFO	1	EFO	Genetic bone tumor	Maffucci syndrome
Orphanet:93450	Orphanet:163634	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	215362	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Maffucci syndrome
Orphanet:93460	Orphanet:163634	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	215363	\N	\N	EFO	1	EFO	Overgrowth syndrome	Maffucci syndrome
Orphanet:98196	Orphanet:163634	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	215364	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Maffucci syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	569529	\N	\N	EFO	2	EFO	neoplasm	Maffucci syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	569530	\N	\N	EFO	2	EFO	skin disease	Maffucci syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	569531	\N	\N	EFO	2	EFO	genetic disorder	Maffucci syndrome
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	569532	\N	\N	EFO	2	EFO	Genetic dermis disorder	Maffucci syndrome
EFO:0003820	Orphanet:183527	\N	"Tumors or cancer located in bone tissue or specific BONES." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	569533	\N	\N	EFO	2	EFO	bone neoplasm	Maffucci syndrome
EFO:0004260	Orphanet:183527	\N	"Diseases of BONES." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	569534	\N	\N	EFO	2	EFO	bone disease	Maffucci syndrome
Orphanet:68336	Orphanet:183527	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	569535	\N	\N	EFO	2	EFO	Rare genetic tumor	Maffucci syndrome
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	569536	\N	\N	EFO	2	EFO	Primary bone dysplasia	Maffucci syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	569537	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Maffucci syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	569538	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Maffucci syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	2033727	\N	\N	EFO	4	EFO	disease	Maffucci syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	3184222	\N	\N	EFO	5	EFO	disease	Maffucci syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	4066862	\N	\N	EFO	6	EFO	disease	Maffucci syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	1151357	\N	\N	EFO	3	EFO	Rare genetic skin disease	Maffucci syndrome
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	1151358	\N	\N	EFO	3	EFO	neoplasm	Maffucci syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	3184223	\N	\N	EFO	5	EFO	skeletal system disease	Maffucci syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	1151360	\N	\N	EFO	3	EFO	genetic disorder	Maffucci syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	1151361	\N	\N	EFO	3	EFO	neoplasm	Maffucci syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	1151362	\N	\N	EFO	3	EFO	Rare genetic bone disease	Maffucci syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	1151363	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Maffucci syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	1151364	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Maffucci syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	3184224	\N	\N	EFO	5	EFO	genetic disorder	Maffucci syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	5028392	\N	\N	EFO	7	EFO	disposition	Maffucci syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	2033725	\N	\N	EFO	4	EFO	genetic disorder	Maffucci syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	2033726	\N	\N	EFO	4	EFO	skin disease	Maffucci syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	4066861	\N	\N	EFO	6	EFO	disease	Maffucci syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	2033730	\N	\N	EFO	4	EFO	genetic disorder	Maffucci syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	2033731	\N	\N	EFO	4	EFO	bone disease	Maffucci syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	2033732	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Maffucci syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	5817500	\N	\N	EFO	8	EFO	material property	Maffucci syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163634	"Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas." []	6409863	\N	\N	EFO	9	EFO	experimental factor	Maffucci syndrome
Orphanet:163649	\N	\N	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	73800	\N	\N	EFO	0	EFO	Spondyloepiphyseal dysplasia, Nishimura type	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:139039	Orphanet:163649	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	215365	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:183763	Orphanet:163649	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	215366	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:253	Orphanet:163649	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	215367	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	569539	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	569540	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	569541	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	1151366	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	1151367	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	1151368	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	1151369	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	2033734	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Spondyloepiphyseal dysplasia, Nishimura type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	2033735	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepiphyseal dysplasia, Nishimura type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	2033736	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepiphyseal dysplasia, Nishimura type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	2033737	\N	\N	EFO	4	EFO	bone disease	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	2033738	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	3184225	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepiphyseal dysplasia, Nishimura type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	5181695	\N	\N	EFO	7	EFO	disease	Spondyloepiphyseal dysplasia, Nishimura type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	3184227	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepiphyseal dysplasia, Nishimura type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	4391923	\N	\N	EFO	6	EFO	genetic disorder	Spondyloepiphyseal dysplasia, Nishimura type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	5876821	\N	\N	EFO	8	EFO	disposition	Spondyloepiphyseal dysplasia, Nishimura type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	4391925	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia, Nishimura type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	6470031	\N	\N	EFO	9	EFO	material property	Spondyloepiphyseal dysplasia, Nishimura type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163649	"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." []	6848317	\N	\N	EFO	10	EFO	experimental factor	Spondyloepiphyseal dysplasia, Nishimura type
Orphanet:163654	\N	\N	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	73801	\N	\N	EFO	0	EFO	Spondyloepiphyseal dysplasia, Cantu type	Spondyloepiphyseal dysplasia, Cantu type
Orphanet:253	Orphanet:163654	\N	"" []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	215368	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepiphyseal dysplasia, Cantu type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	569542	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepiphyseal dysplasia, Cantu type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	1151370	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia, Cantu type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	1151371	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepiphyseal dysplasia, Cantu type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	2033739	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepiphyseal dysplasia, Cantu type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	2033740	\N	\N	EFO	4	EFO	bone disease	Spondyloepiphyseal dysplasia, Cantu type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	2033741	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepiphyseal dysplasia, Cantu type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	4391929	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia, Cantu type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	3184230	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepiphyseal dysplasia, Cantu type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	3184231	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepiphyseal dysplasia, Cantu type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	5181696	\N	\N	EFO	7	EFO	disposition	Spondyloepiphyseal dysplasia, Cantu type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	4391928	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia, Cantu type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	5997071	\N	\N	EFO	8	EFO	material property	Spondyloepiphyseal dysplasia, Cantu type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163654	"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." []	6550616	\N	\N	EFO	9	EFO	experimental factor	Spondyloepiphyseal dysplasia, Cantu type
Orphanet:163662	\N	\N	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	73802	\N	\N	EFO	0	EFO	Spondyloepiphyseal dysplasia, Reardon type	Spondyloepiphyseal dysplasia, Reardon type
Orphanet:253	Orphanet:163662	\N	"" []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	215369	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepiphyseal dysplasia, Reardon type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	569543	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepiphyseal dysplasia, Reardon type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	1151372	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia, Reardon type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	1151373	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepiphyseal dysplasia, Reardon type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	2033742	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepiphyseal dysplasia, Reardon type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	2033743	\N	\N	EFO	4	EFO	bone disease	Spondyloepiphyseal dysplasia, Reardon type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	2033744	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepiphyseal dysplasia, Reardon type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	4391932	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia, Reardon type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	3184233	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepiphyseal dysplasia, Reardon type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	3184234	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepiphyseal dysplasia, Reardon type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	5181697	\N	\N	EFO	7	EFO	disposition	Spondyloepiphyseal dysplasia, Reardon type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	4391931	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia, Reardon type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	5997072	\N	\N	EFO	8	EFO	material property	Spondyloepiphyseal dysplasia, Reardon type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163662	"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." []	6550617	\N	\N	EFO	9	EFO	experimental factor	Spondyloepiphyseal dysplasia, Reardon type
Orphanet:163665	\N	\N	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	73803	\N	\N	EFO	0	EFO	Spondyloepiphyseal dysplasia tarda, Kohn type	Spondyloepiphyseal dysplasia tarda, Kohn type
Orphanet:183763	Orphanet:163665	\N	"" []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	215370	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Spondyloepiphyseal dysplasia tarda, Kohn type
Orphanet:253	Orphanet:163665	\N	"" []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	215371	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepiphyseal dysplasia tarda, Kohn type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	569544	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Spondyloepiphyseal dysplasia tarda, Kohn type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	569545	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepiphyseal dysplasia tarda, Kohn type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	1151374	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Spondyloepiphyseal dysplasia tarda, Kohn type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	1151375	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia tarda, Kohn type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	1151376	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepiphyseal dysplasia tarda, Kohn type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	2033745	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepiphyseal dysplasia tarda, Kohn type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	2033746	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepiphyseal dysplasia tarda, Kohn type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	2033747	\N	\N	EFO	4	EFO	bone disease	Spondyloepiphyseal dysplasia tarda, Kohn type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	2033748	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepiphyseal dysplasia tarda, Kohn type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	4391935	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia tarda, Kohn type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	3184236	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepiphyseal dysplasia tarda, Kohn type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	3184237	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepiphyseal dysplasia tarda, Kohn type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	5181698	\N	\N	EFO	7	EFO	disposition	Spondyloepiphyseal dysplasia tarda, Kohn type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	4391934	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia tarda, Kohn type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	5997073	\N	\N	EFO	8	EFO	material property	Spondyloepiphyseal dysplasia tarda, Kohn type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163665	"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." []	6550618	\N	\N	EFO	9	EFO	experimental factor	Spondyloepiphyseal dysplasia tarda, Kohn type
Orphanet:163668	\N	\N	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	73804	\N	\N	EFO	0	EFO	Spondyloepiphyseal dysplasia, MacDermot type	Spondyloepiphyseal dysplasia, MacDermot type
Orphanet:253	Orphanet:163668	\N	"" []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	215372	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepiphyseal dysplasia, MacDermot type
Orphanet:90642	Orphanet:163668	\N	"" []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	215373	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Spondyloepiphyseal dysplasia, MacDermot type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	569546	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepiphyseal dysplasia, MacDermot type
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	569547	\N	\N	EFO	2	EFO	Rare genetic deafness	Spondyloepiphyseal dysplasia, MacDermot type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	1151377	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia, MacDermot type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	1151378	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepiphyseal dysplasia, MacDermot type
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	1151379	\N	\N	EFO	3	EFO	genetic disorder	Spondyloepiphyseal dysplasia, MacDermot type
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	1151380	\N	\N	EFO	3	EFO	auditory system disease	Spondyloepiphyseal dysplasia, MacDermot type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	2033749	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepiphyseal dysplasia, MacDermot type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	2033750	\N	\N	EFO	4	EFO	bone disease	Spondyloepiphyseal dysplasia, MacDermot type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	2033751	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepiphyseal dysplasia, MacDermot type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	4391937	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia, MacDermot type
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	2033753	\N	\N	EFO	4	EFO	sensory system disease	Spondyloepiphyseal dysplasia, MacDermot type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	3184239	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepiphyseal dysplasia, MacDermot type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	3184240	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepiphyseal dysplasia, MacDermot type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	5059644	\N	\N	EFO	7	EFO	disposition	Spondyloepiphyseal dysplasia, MacDermot type
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	3184242	\N	\N	EFO	5	EFO	nervous system disease	Spondyloepiphyseal dysplasia, MacDermot type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	4391936	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia, MacDermot type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	5876822	\N	\N	EFO	8	EFO	material property	Spondyloepiphyseal dysplasia, MacDermot type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	4391939	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia, MacDermot type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163668	"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." []	6470032	\N	\N	EFO	9	EFO	experimental factor	Spondyloepiphyseal dysplasia, MacDermot type
Orphanet:163681	\N	\N	"" []	Orphanet:163681	"" []	73805	\N	\N	EFO	0	EFO	Cortical dysplasia - focal epilepsy syndrome	Cortical dysplasia - focal epilepsy syndrome
Orphanet:166463	Orphanet:163681	\N	"" []	Orphanet:163681	"" []	215374	\N	\N	EFO	1	EFO	Epilepsy syndrome	Cortical dysplasia - focal epilepsy syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:163681	"" []	569548	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Cortical dysplasia - focal epilepsy syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:163681	"" []	1151381	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cortical dysplasia - focal epilepsy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163681	"" []	2033754	\N	\N	EFO	4	EFO	genetic disorder	Cortical dysplasia - focal epilepsy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163681	"" []	3184243	\N	\N	EFO	5	EFO	disease	Cortical dysplasia - focal epilepsy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163681	"" []	4391940	\N	\N	EFO	6	EFO	disposition	Cortical dysplasia - focal epilepsy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163681	"" []	5410879	\N	\N	EFO	7	EFO	material property	Cortical dysplasia - focal epilepsy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163681	"" []	6148412	\N	\N	EFO	8	EFO	experimental factor	Cortical dysplasia - focal epilepsy syndrome
Orphanet:163684	\N	\N	"" []	Orphanet:163684	"" []	73806	\N	\N	EFO	0	EFO	Leukoencephalopathy - dystonia - motor neuropathy	Leukoencephalopathy - dystonia - motor neuropathy
Orphanet:68356	Orphanet:163684	\N	"" []	Orphanet:163684	"" []	215375	\N	\N	EFO	1	EFO	Leukodystrophy	Leukoencephalopathy - dystonia - motor neuropathy
Orphanet:79188	Orphanet:163684	\N	"" []	Orphanet:163684	"" []	215376	\N	\N	EFO	1	EFO	Peroxisomal beta-oxidation disorder	Leukoencephalopathy - dystonia - motor neuropathy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:163684	"" []	569549	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Leukoencephalopathy - dystonia - motor neuropathy
Orphanet:309810	Orphanet:79188	\N	"" []	Orphanet:163684	"" []	569550	\N	\N	EFO	2	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	Leukoencephalopathy - dystonia - motor neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163684	"" []	1151382	\N	\N	EFO	3	EFO	genetic disorder	Leukoencephalopathy - dystonia - motor neuropathy
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:163684	"" []	1151383	\N	\N	EFO	3	EFO	Peroxisomal disease	Leukoencephalopathy - dystonia - motor neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163684	"" []	4391942	\N	\N	EFO	6	EFO	disease	Leukoencephalopathy - dystonia - motor neuropathy
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:163684	"" []	2033756	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Leukoencephalopathy - dystonia - motor neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163684	"" []	5059645	\N	\N	EFO	7	EFO	disposition	Leukoencephalopathy - dystonia - motor neuropathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163684	"" []	3184245	\N	\N	EFO	5	EFO	genetic disorder	Leukoencephalopathy - dystonia - motor neuropathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:163684	"" []	3184246	\N	\N	EFO	5	EFO	metabolic disease	Leukoencephalopathy - dystonia - motor neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163684	"" []	5876823	\N	\N	EFO	8	EFO	material property	Leukoencephalopathy - dystonia - motor neuropathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163684	"" []	4391943	\N	\N	EFO	6	EFO	disease	Leukoencephalopathy - dystonia - motor neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163684	"" []	6470033	\N	\N	EFO	9	EFO	experimental factor	Leukoencephalopathy - dystonia - motor neuropathy
Orphanet:163690	\N	\N	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	73807	\N	\N	EFO	0	EFO	Hypotonia - cystinuria syndrome	Hypotonia - cystinuria syndrome
Orphanet:238517	Orphanet:163690	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	215377	\N	\N	EFO	1	EFO	Hypotonia - cystinuria type 1	Hypotonia - cystinuria syndrome
Orphanet:183592	Orphanet:238517	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	569551	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Hypotonia - cystinuria syndrome
Orphanet:369886	Orphanet:238517	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	569552	\N	\N	EFO	2	EFO	Homozygous 2p21 microdeletion syndrome	Hypotonia - cystinuria syndrome
Orphanet:68380	Orphanet:238517	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	569553	\N	\N	EFO	2	EFO	Mitochondrial disease	Hypotonia - cystinuria syndrome
Orphanet:79166	Orphanet:238517	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	569554	\N	\N	EFO	2	EFO	Disorder of amino acid absorption and transport	Hypotonia - cystinuria syndrome
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	1151384	\N	\N	EFO	3	EFO	Rare genetic renal disease	Hypotonia - cystinuria syndrome
Orphanet:261866	Orphanet:369886	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	1151385	\N	\N	EFO	3	EFO	Partial deletion of the short arm of chromosome 2	Hypotonia - cystinuria syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	1151386	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Hypotonia - cystinuria syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	1151387	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Hypotonia - cystinuria syndrome
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	1151388	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Hypotonia - cystinuria syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	2033757	\N	\N	EFO	4	EFO	genetic disorder	Hypotonia - cystinuria syndrome
Orphanet:261771	Orphanet:261866	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	2033758	\N	\N	EFO	4	EFO	Partial deletion of chromosome 2	Hypotonia - cystinuria syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	2033759	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hypotonia - cystinuria syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	2033760	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hypotonia - cystinuria syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	2033761	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hypotonia - cystinuria syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	6925430	\N	\N	EFO	10	EFO	disease	Hypotonia - cystinuria syndrome
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	3184248	\N	\N	EFO	5	EFO	Partial autosomal monosomy	Hypotonia - cystinuria syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	3184249	\N	\N	EFO	5	EFO	genetic disorder	Hypotonia - cystinuria syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	3184250	\N	\N	EFO	5	EFO	genetic disorder	Hypotonia - cystinuria syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	3184251	\N	\N	EFO	5	EFO	metabolic disease	Hypotonia - cystinuria syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	7015668	\N	\N	EFO	11	EFO	disposition	Hypotonia - cystinuria syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	4391945	\N	\N	EFO	6	EFO	Autosomal monosomy	Hypotonia - cystinuria syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	4391947	\N	\N	EFO	6	EFO	disease	Hypotonia - cystinuria syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	7173616	\N	\N	EFO	12	EFO	material property	Hypotonia - cystinuria syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	5410882	\N	\N	EFO	7	EFO	Autosomal anomaly	Hypotonia - cystinuria syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	7275668	\N	\N	EFO	13	EFO	experimental factor	Hypotonia - cystinuria syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	6148414	\N	\N	EFO	8	EFO	Chromosomal anomaly	Hypotonia - cystinuria syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163690	"Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." []	6632186	\N	\N	EFO	9	EFO	genetic disorder	Hypotonia - cystinuria syndrome
Orphanet:163693	\N	\N	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	73808	\N	\N	EFO	0	EFO	2p21 microdeletion syndrome	2p21 microdeletion syndrome
Orphanet:238517	Orphanet:163693	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	215378	\N	\N	EFO	1	EFO	Hypotonia - cystinuria type 1	2p21 microdeletion syndrome
Orphanet:183592	Orphanet:238517	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	569555	\N	\N	EFO	2	EFO	Genetic renal tubular disease	2p21 microdeletion syndrome
Orphanet:369886	Orphanet:238517	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	569556	\N	\N	EFO	2	EFO	Homozygous 2p21 microdeletion syndrome	2p21 microdeletion syndrome
Orphanet:68380	Orphanet:238517	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	569557	\N	\N	EFO	2	EFO	Mitochondrial disease	2p21 microdeletion syndrome
Orphanet:79166	Orphanet:238517	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	569558	\N	\N	EFO	2	EFO	Disorder of amino acid absorption and transport	2p21 microdeletion syndrome
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	1151389	\N	\N	EFO	3	EFO	Rare genetic renal disease	2p21 microdeletion syndrome
Orphanet:261866	Orphanet:369886	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	1151390	\N	\N	EFO	3	EFO	Partial deletion of the short arm of chromosome 2	2p21 microdeletion syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	1151391	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	2p21 microdeletion syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	1151392	\N	\N	EFO	3	EFO	Disorder of energy metabolism	2p21 microdeletion syndrome
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	1151393	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	2p21 microdeletion syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	2033762	\N	\N	EFO	4	EFO	genetic disorder	2p21 microdeletion syndrome
Orphanet:261771	Orphanet:261866	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	2033763	\N	\N	EFO	4	EFO	Partial deletion of chromosome 2	2p21 microdeletion syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	2033764	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	2p21 microdeletion syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	2033765	\N	\N	EFO	4	EFO	Inborn errors of metabolism	2p21 microdeletion syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	2033766	\N	\N	EFO	4	EFO	Inborn errors of metabolism	2p21 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	6925431	\N	\N	EFO	10	EFO	disease	2p21 microdeletion syndrome
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	3184253	\N	\N	EFO	5	EFO	Partial autosomal monosomy	2p21 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	3184254	\N	\N	EFO	5	EFO	genetic disorder	2p21 microdeletion syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	3184255	\N	\N	EFO	5	EFO	genetic disorder	2p21 microdeletion syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	3184256	\N	\N	EFO	5	EFO	metabolic disease	2p21 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	7015669	\N	\N	EFO	11	EFO	disposition	2p21 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	4391949	\N	\N	EFO	6	EFO	Autosomal monosomy	2p21 microdeletion syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	4391951	\N	\N	EFO	6	EFO	disease	2p21 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	7173617	\N	\N	EFO	12	EFO	material property	2p21 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	5410884	\N	\N	EFO	7	EFO	Autosomal anomaly	2p21 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	7275669	\N	\N	EFO	13	EFO	experimental factor	2p21 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	6148416	\N	\N	EFO	8	EFO	Chromosomal anomaly	2p21 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163693	"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." []	6632187	\N	\N	EFO	9	EFO	genetic disorder	2p21 microdeletion syndrome
Orphanet:163696	\N	\N	"" []	Orphanet:163696	"" []	73809	\N	\N	EFO	0	EFO	Action myoclonus - renal failure syndrome	Action myoclonus - renal failure syndrome
Orphanet:102373	Orphanet:163696	\N	"" []	Orphanet:163696	"" []	215379	\N	\N	EFO	1	EFO	Primary glomerular disease	Action myoclonus - renal failure syndrome
Orphanet:166463	Orphanet:163696	\N	"" []	Orphanet:163696	"" []	215380	\N	\N	EFO	1	EFO	Epilepsy syndrome	Action myoclonus - renal failure syndrome
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:163696	"" []	569559	\N	\N	EFO	2	EFO	Genetic glomerular disease	Action myoclonus - renal failure syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:163696	"" []	569560	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Action myoclonus - renal failure syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:163696	"" []	1151394	\N	\N	EFO	3	EFO	Rare genetic renal disease	Action myoclonus - renal failure syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:163696	"" []	1151395	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Action myoclonus - renal failure syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163696	"" []	2033767	\N	\N	EFO	4	EFO	genetic disorder	Action myoclonus - renal failure syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163696	"" []	2033768	\N	\N	EFO	4	EFO	genetic disorder	Action myoclonus - renal failure syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163696	"" []	3184257	\N	\N	EFO	5	EFO	disease	Action myoclonus - renal failure syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163696	"" []	4391952	\N	\N	EFO	6	EFO	disposition	Action myoclonus - renal failure syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163696	"" []	5410885	\N	\N	EFO	7	EFO	material property	Action myoclonus - renal failure syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163696	"" []	6148417	\N	\N	EFO	8	EFO	experimental factor	Action myoclonus - renal failure syndrome
Orphanet:163708	\N	\N	"" []	Orphanet:163708	"" []	73810	\N	\N	EFO	0	EFO	Cryptogenic late-onset epileptic spasms	Cryptogenic late-onset epileptic spasms
Orphanet:98259	Orphanet:163708	\N	"" []	Orphanet:163708	"" []	215381	\N	\N	EFO	1	EFO	Childhood-onset epilepsy syndrome	Cryptogenic late-onset epileptic spasms
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:163708	"" []	569561	\N	\N	EFO	2	EFO	Epilepsy syndrome	Cryptogenic late-onset epileptic spasms
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:163708	"" []	1151396	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Cryptogenic late-onset epileptic spasms
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:163708	"" []	2033769	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cryptogenic late-onset epileptic spasms
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163708	"" []	3184258	\N	\N	EFO	5	EFO	genetic disorder	Cryptogenic late-onset epileptic spasms
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163708	"" []	4391953	\N	\N	EFO	6	EFO	disease	Cryptogenic late-onset epileptic spasms
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163708	"" []	5410886	\N	\N	EFO	7	EFO	disposition	Cryptogenic late-onset epileptic spasms
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163708	"" []	6148418	\N	\N	EFO	8	EFO	material property	Cryptogenic late-onset epileptic spasms
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163708	"" []	6632188	\N	\N	EFO	9	EFO	experimental factor	Cryptogenic late-onset epileptic spasms
Orphanet:163717	\N	\N	"" []	Orphanet:163717	"" []	73811	\N	\N	EFO	0	EFO	Benign familial mesial temporal lobe epilepsy	Benign familial mesial temporal lobe epilepsy
Orphanet:309	Orphanet:163717	\N	"" []	Orphanet:163717	"" []	215382	\N	\N	EFO	1	EFO	Familial partial epilepsy	Benign familial mesial temporal lobe epilepsy
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:163717	"" []	569562	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Benign familial mesial temporal lobe epilepsy
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:163717	"" []	569563	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Benign familial mesial temporal lobe epilepsy
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:163717	"" []	569564	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Benign familial mesial temporal lobe epilepsy
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:163717	"" []	569565	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Benign familial mesial temporal lobe epilepsy
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:163717	"" []	1151397	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Benign familial mesial temporal lobe epilepsy
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:163717	"" []	1151398	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Benign familial mesial temporal lobe epilepsy
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:163717	"" []	1151399	\N	\N	EFO	3	EFO	Epilepsy syndrome	Benign familial mesial temporal lobe epilepsy
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:163717	"" []	1151400	\N	\N	EFO	3	EFO	Epilepsy syndrome	Benign familial mesial temporal lobe epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:163717	"" []	3184260	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Benign familial mesial temporal lobe epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:163717	"" []	2033771	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Benign familial mesial temporal lobe epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:163717	"" []	2033772	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Benign familial mesial temporal lobe epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163717	"" []	4133360	\N	\N	EFO	6	EFO	genetic disorder	Benign familial mesial temporal lobe epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163717	"" []	5181702	\N	\N	EFO	7	EFO	disease	Benign familial mesial temporal lobe epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163717	"" []	5997077	\N	\N	EFO	8	EFO	disposition	Benign familial mesial temporal lobe epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163717	"" []	6550621	\N	\N	EFO	9	EFO	material property	Benign familial mesial temporal lobe epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163717	"" []	6889057	\N	\N	EFO	10	EFO	experimental factor	Benign familial mesial temporal lobe epilepsy
Orphanet:163721	\N	\N	"" []	Orphanet:163721	"" []	73812	\N	\N	EFO	0	EFO	Rolandic epilepsy - speech dyspraxia	Rolandic epilepsy - speech dyspraxia
Orphanet:98259	Orphanet:163721	\N	"" []	Orphanet:163721	"" []	215383	\N	\N	EFO	1	EFO	Childhood-onset epilepsy syndrome	Rolandic epilepsy - speech dyspraxia
Orphanet:98464	Orphanet:163721	\N	"" []	Orphanet:163721	"" []	215384	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Rolandic epilepsy - speech dyspraxia
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:163721	"" []	569566	\N	\N	EFO	2	EFO	Epilepsy syndrome	Rolandic epilepsy - speech dyspraxia
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:163721	"" []	569567	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Rolandic epilepsy - speech dyspraxia
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:163721	"" []	1151401	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Rolandic epilepsy - speech dyspraxia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163721	"" []	1151402	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Rolandic epilepsy - speech dyspraxia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:163721	"" []	2033773	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Rolandic epilepsy - speech dyspraxia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163721	"" []	2033774	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Rolandic epilepsy - speech dyspraxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163721	"" []	3184261	\N	\N	EFO	5	EFO	genetic disorder	Rolandic epilepsy - speech dyspraxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163721	"" []	4391955	\N	\N	EFO	6	EFO	disease	Rolandic epilepsy - speech dyspraxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163721	"" []	5410888	\N	\N	EFO	7	EFO	disposition	Rolandic epilepsy - speech dyspraxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163721	"" []	6148420	\N	\N	EFO	8	EFO	material property	Rolandic epilepsy - speech dyspraxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163721	"" []	6632190	\N	\N	EFO	9	EFO	experimental factor	Rolandic epilepsy - speech dyspraxia
Orphanet:163727	\N	\N	"" []	Orphanet:163727	"" []	73813	\N	\N	EFO	0	EFO	Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp	Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
Orphanet:98259	Orphanet:163727	\N	"" []	Orphanet:163727	"" []	215385	\N	\N	EFO	1	EFO	Childhood-onset epilepsy syndrome	Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:163727	"" []	569568	\N	\N	EFO	2	EFO	Epilepsy syndrome	Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:163727	"" []	1151403	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:163727	"" []	2033775	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163727	"" []	3184262	\N	\N	EFO	5	EFO	genetic disorder	Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163727	"" []	4391956	\N	\N	EFO	6	EFO	disease	Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163727	"" []	5410889	\N	\N	EFO	7	EFO	disposition	Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163727	"" []	6148421	\N	\N	EFO	8	EFO	material property	Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163727	"" []	6632191	\N	\N	EFO	9	EFO	experimental factor	Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
Orphanet:163746	\N	\N	"" []	Orphanet:163746	"" []	73814	\N	\N	EFO	0	EFO	Neurologic Waardenburg-Shah syndrome	Neurologic Waardenburg-Shah syndrome
Orphanet:104009	Orphanet:163746	\N	"" []	Orphanet:163746	"" []	215386	\N	\N	EFO	1	EFO	Congenital intestinal motility disorder	Neurologic Waardenburg-Shah syndrome
Orphanet:108969	Orphanet:163746	\N	"" []	Orphanet:163746	"" []	215387	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Neurologic Waardenburg-Shah syndrome
Orphanet:183469	Orphanet:163746	\N	"" []	Orphanet:163746	"" []	215388	\N	\N	EFO	1	EFO	Genetic hypopigmentation of the skin	Neurologic Waardenburg-Shah syndrome
Orphanet:68356	Orphanet:163746	\N	"" []	Orphanet:163746	"" []	215389	\N	\N	EFO	1	EFO	Leukodystrophy	Neurologic Waardenburg-Shah syndrome
Orphanet:90642	Orphanet:163746	\N	"" []	Orphanet:163746	"" []	215390	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Neurologic Waardenburg-Shah syndrome
Orphanet:98497	Orphanet:163746	\N	"" []	Orphanet:163746	"" []	215391	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Neurologic Waardenburg-Shah syndrome
Orphanet:98708	Orphanet:163746	\N	"" []	Orphanet:163746	"" []	215392	\N	\N	EFO	1	EFO	Pigmentation disorder with eye involvement, excluding albinism	Neurologic Waardenburg-Shah syndrome
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:163746	"" []	569569	\N	\N	EFO	2	EFO	Genetic intestinal disease	Neurologic Waardenburg-Shah syndrome
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:163746	"" []	569570	\N	\N	EFO	2	EFO	Intestinal malformation	Neurologic Waardenburg-Shah syndrome
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:163746	"" []	569571	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Neurologic Waardenburg-Shah syndrome
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:163746	"" []	569572	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neurologic Waardenburg-Shah syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:163746	"" []	569573	\N	\N	EFO	2	EFO	Rare genetic deafness	Neurologic Waardenburg-Shah syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:163746	"" []	569574	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neurologic Waardenburg-Shah syndrome
Orphanet:98700	Orphanet:98708	\N	"" []	Orphanet:163746	"" []	569575	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement	Neurologic Waardenburg-Shah syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:163746	"" []	1151404	\N	\N	EFO	3	EFO	digestive system disease	Neurologic Waardenburg-Shah syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:163746	"" []	1151405	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Neurologic Waardenburg-Shah syndrome
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:163746	"" []	1151406	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Neurologic Waardenburg-Shah syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:163746	"" []	1151407	\N	\N	EFO	3	EFO	Rare genetic skin disease	Neurologic Waardenburg-Shah syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163746	"" []	1151408	\N	\N	EFO	3	EFO	genetic disorder	Neurologic Waardenburg-Shah syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163746	"" []	1151409	\N	\N	EFO	3	EFO	genetic disorder	Neurologic Waardenburg-Shah syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:163746	"" []	1151410	\N	\N	EFO	3	EFO	auditory system disease	Neurologic Waardenburg-Shah syndrome
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:163746	"" []	1151411	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Neurologic Waardenburg-Shah syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163746	"" []	2033776	\N	\N	EFO	4	EFO	disease	Neurologic Waardenburg-Shah syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163746	"" []	2033777	\N	\N	EFO	4	EFO	genetic disorder	Neurologic Waardenburg-Shah syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:163746	"" []	2033778	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Neurologic Waardenburg-Shah syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163746	"" []	2033779	\N	\N	EFO	4	EFO	genetic disorder	Neurologic Waardenburg-Shah syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:163746	"" []	2033780	\N	\N	EFO	4	EFO	skin disease	Neurologic Waardenburg-Shah syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163746	"" []	4391958	\N	\N	EFO	6	EFO	disease	Neurologic Waardenburg-Shah syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:163746	"" []	2033782	\N	\N	EFO	4	EFO	sensory system disease	Neurologic Waardenburg-Shah syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:163746	"" []	2033783	\N	\N	EFO	4	EFO	Rare genetic eye disease	Neurologic Waardenburg-Shah syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163746	"" []	5059646	\N	\N	EFO	7	EFO	disposition	Neurologic Waardenburg-Shah syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163746	"" []	3184265	\N	\N	EFO	5	EFO	genetic disorder	Neurologic Waardenburg-Shah syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163746	"" []	3184266	\N	\N	EFO	5	EFO	disease	Neurologic Waardenburg-Shah syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:163746	"" []	3184267	\N	\N	EFO	5	EFO	nervous system disease	Neurologic Waardenburg-Shah syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163746	"" []	3184268	\N	\N	EFO	5	EFO	genetic disorder	Neurologic Waardenburg-Shah syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:163746	"" []	3184269	\N	\N	EFO	5	EFO	eye disease	Neurologic Waardenburg-Shah syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163746	"" []	5876824	\N	\N	EFO	8	EFO	material property	Neurologic Waardenburg-Shah syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163746	"" []	4391959	\N	\N	EFO	6	EFO	disease	Neurologic Waardenburg-Shah syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163746	"" []	4391960	\N	\N	EFO	6	EFO	disease	Neurologic Waardenburg-Shah syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163746	"" []	6470034	\N	\N	EFO	9	EFO	experimental factor	Neurologic Waardenburg-Shah syndrome
Orphanet:163927	\N	\N	"" []	Orphanet:163927	"" []	73815	\N	\N	EFO	0	EFO	Pustulosis palmaris et plantaris	Pustulosis palmaris et plantaris
Orphanet:79385	Orphanet:163927	\N	"" []	Orphanet:163927	"" []	215393	\N	\N	EFO	1	EFO	Unclassified genetic skin disorder	Pustulosis palmaris et plantaris
Orphanet:68346	Orphanet:79385	\N	"" []	Orphanet:163927	"" []	569576	\N	\N	EFO	2	EFO	Rare genetic skin disease	Pustulosis palmaris et plantaris
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163927	"" []	1151412	\N	\N	EFO	3	EFO	genetic disorder	Pustulosis palmaris et plantaris
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:163927	"" []	1151413	\N	\N	EFO	3	EFO	skin disease	Pustulosis palmaris et plantaris
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163927	"" []	2033784	\N	\N	EFO	4	EFO	disease	Pustulosis palmaris et plantaris
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163927	"" []	2033785	\N	\N	EFO	4	EFO	disease	Pustulosis palmaris et plantaris
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163927	"" []	3184270	\N	\N	EFO	5	EFO	disposition	Pustulosis palmaris et plantaris
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163927	"" []	4391961	\N	\N	EFO	6	EFO	material property	Pustulosis palmaris et plantaris
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163927	"" []	5410891	\N	\N	EFO	7	EFO	experimental factor	Pustulosis palmaris et plantaris
Orphanet:163931	\N	\N	"" []	Orphanet:163931	"" []	73816	\N	\N	EFO	0	EFO	Acrodermatitis continua suppurativa of Hallopeau	Acrodermatitis continua suppurativa of Hallopeau
Orphanet:79385	Orphanet:163931	\N	"" []	Orphanet:163931	"" []	215394	\N	\N	EFO	1	EFO	Unclassified genetic skin disorder	Acrodermatitis continua suppurativa of Hallopeau
Orphanet:68346	Orphanet:79385	\N	"" []	Orphanet:163931	"" []	569577	\N	\N	EFO	2	EFO	Rare genetic skin disease	Acrodermatitis continua suppurativa of Hallopeau
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163931	"" []	1151414	\N	\N	EFO	3	EFO	genetic disorder	Acrodermatitis continua suppurativa of Hallopeau
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:163931	"" []	1151415	\N	\N	EFO	3	EFO	skin disease	Acrodermatitis continua suppurativa of Hallopeau
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163931	"" []	2033786	\N	\N	EFO	4	EFO	disease	Acrodermatitis continua suppurativa of Hallopeau
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163931	"" []	2033787	\N	\N	EFO	4	EFO	disease	Acrodermatitis continua suppurativa of Hallopeau
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163931	"" []	3184271	\N	\N	EFO	5	EFO	disposition	Acrodermatitis continua suppurativa of Hallopeau
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163931	"" []	4391962	\N	\N	EFO	6	EFO	material property	Acrodermatitis continua suppurativa of Hallopeau
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163931	"" []	5410892	\N	\N	EFO	7	EFO	experimental factor	Acrodermatitis continua suppurativa of Hallopeau
Orphanet:163937	\N	\N	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	73817	\N	\N	EFO	0	EFO	X-linked intellectual disability, Najm type	X-linked intellectual disability, Najm type
Orphanet:269567	Orphanet:163937	\N	"" []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	215395	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	X-linked intellectual disability, Najm type
Orphanet:98464	Orphanet:163937	\N	"" []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	215396	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Najm type
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	569578	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	X-linked intellectual disability, Najm type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	569579	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Najm type
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	1151416	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	X-linked intellectual disability, Najm type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	1151417	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Najm type
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	2033788	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Najm type
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	2033789	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Najm type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	2033790	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Najm type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	3184272	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Najm type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	3184273	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Najm type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	4391963	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Najm type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	5410893	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Najm type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	6148422	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Najm type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163937	"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." []	6632192	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Najm type
Orphanet:163956	\N	\N	"" []	Orphanet:163956	"" []	73818	\N	\N	EFO	0	EFO	X-linked intellectual disability, Nascimento type	X-linked intellectual disability, Nascimento type
Orphanet:98464	Orphanet:163956	\N	"" []	Orphanet:163956	"" []	215397	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Nascimento type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:163956	"" []	569580	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Nascimento type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163956	"" []	1151418	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Nascimento type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163956	"" []	2033791	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Nascimento type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163956	"" []	3184274	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Nascimento type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163956	"" []	4391964	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Nascimento type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163956	"" []	5410894	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Nascimento type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163956	"" []	6148423	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Nascimento type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163956	"" []	6632193	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Nascimento type
Orphanet:163961	\N	\N	"" []	Orphanet:163961	"" []	73819	\N	\N	EFO	0	EFO	X-linked intellectual disability, Kroes type	X-linked intellectual disability, Kroes type
Orphanet:269567	Orphanet:163961	\N	"" []	Orphanet:163961	"" []	215398	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	X-linked intellectual disability, Kroes type
Orphanet:98464	Orphanet:163961	\N	"" []	Orphanet:163961	"" []	215399	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Kroes type
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:163961	"" []	569581	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	X-linked intellectual disability, Kroes type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:163961	"" []	569582	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Kroes type
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:163961	"" []	1151419	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	X-linked intellectual disability, Kroes type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163961	"" []	1151420	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Kroes type
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:163961	"" []	2033792	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Kroes type
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:163961	"" []	2033793	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Kroes type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163961	"" []	2033794	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Kroes type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163961	"" []	3184275	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Kroes type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163961	"" []	3184276	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Kroes type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163961	"" []	4391965	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Kroes type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163961	"" []	5410895	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Kroes type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163961	"" []	6148424	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Kroes type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163961	"" []	6632194	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Kroes type
Orphanet:163966	\N	\N	"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." []	Orphanet:163966	"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." []	73820	\N	\N	EFO	0	EFO	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Orphanet:98464	Orphanet:163966	\N	"" []	Orphanet:163966	"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." []	215400	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:163966	"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." []	569583	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163966	"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." []	1151421	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163966	"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." []	2033795	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163966	"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." []	3184277	\N	\N	EFO	5	EFO	genetic disorder	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163966	"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." []	4391966	\N	\N	EFO	6	EFO	disease	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163966	"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." []	5410896	\N	\N	EFO	7	EFO	disposition	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163966	"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." []	6148425	\N	\N	EFO	8	EFO	material property	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163966	"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." []	6632195	\N	\N	EFO	9	EFO	experimental factor	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Orphanet:163971	\N	\N	"" []	Orphanet:163971	"" []	73821	\N	\N	EFO	0	EFO	X-linked intellectual disability, Cilliers type	X-linked intellectual disability, Cilliers type
Orphanet:181441	Orphanet:163971	\N	"" []	Orphanet:163971	"" []	215401	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	X-linked intellectual disability, Cilliers type
Orphanet:98464	Orphanet:163971	\N	"" []	Orphanet:163971	"" []	215402	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Cilliers type
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:163971	"" []	569584	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	X-linked intellectual disability, Cilliers type
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:163971	"" []	569585	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	X-linked intellectual disability, Cilliers type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:163971	"" []	569586	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Cilliers type
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163971	"" []	1151422	\N	\N	EFO	3	EFO	genetic disorder	X-linked intellectual disability, Cilliers type
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:163971	"" []	1151423	\N	\N	EFO	3	EFO	endocrine system disease	X-linked intellectual disability, Cilliers type
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:163971	"" []	1151424	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	X-linked intellectual disability, Cilliers type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163971	"" []	1151425	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Cilliers type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163971	"" []	5410898	\N	\N	EFO	7	EFO	disease	X-linked intellectual disability, Cilliers type
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163971	"" []	2033797	\N	\N	EFO	4	EFO	disease	X-linked intellectual disability, Cilliers type
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:163971	"" []	2033798	\N	\N	EFO	4	EFO	Rare genetic male infertility	X-linked intellectual disability, Cilliers type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163971	"" []	2033799	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Cilliers type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163971	"" []	5817501	\N	\N	EFO	8	EFO	disposition	X-linked intellectual disability, Cilliers type
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:163971	"" []	3184279	\N	\N	EFO	5	EFO	Genetic infertility	X-linked intellectual disability, Cilliers type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163971	"" []	3184280	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Cilliers type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163971	"" []	6409864	\N	\N	EFO	9	EFO	material property	X-linked intellectual disability, Cilliers type
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163971	"" []	4391968	\N	\N	EFO	6	EFO	genetic disorder	X-linked intellectual disability, Cilliers type
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:163971	"" []	4391969	\N	\N	EFO	6	EFO	reproductive system disease	X-linked intellectual disability, Cilliers type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163971	"" []	6807714	\N	\N	EFO	10	EFO	experimental factor	X-linked intellectual disability, Cilliers type
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163971	"" []	5410899	\N	\N	EFO	7	EFO	disease	X-linked intellectual disability, Cilliers type
Orphanet:163976	\N	\N	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	73822	\N	\N	EFO	0	EFO	X-linked intellectual disability, Van Esch type	X-linked intellectual disability, Van Esch type
Orphanet:181441	Orphanet:163976	\N	"" []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	215403	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	X-linked intellectual disability, Van Esch type
Orphanet:98464	Orphanet:163976	\N	"" []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	215404	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Van Esch type
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	569587	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	X-linked intellectual disability, Van Esch type
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	569588	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	X-linked intellectual disability, Van Esch type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	569589	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Van Esch type
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	1151426	\N	\N	EFO	3	EFO	genetic disorder	X-linked intellectual disability, Van Esch type
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	1151427	\N	\N	EFO	3	EFO	endocrine system disease	X-linked intellectual disability, Van Esch type
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	1151428	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	X-linked intellectual disability, Van Esch type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	1151429	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Van Esch type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	5410901	\N	\N	EFO	7	EFO	disease	X-linked intellectual disability, Van Esch type
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	2033801	\N	\N	EFO	4	EFO	disease	X-linked intellectual disability, Van Esch type
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	2033802	\N	\N	EFO	4	EFO	Rare genetic male infertility	X-linked intellectual disability, Van Esch type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	2033803	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Van Esch type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	5817502	\N	\N	EFO	8	EFO	disposition	X-linked intellectual disability, Van Esch type
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	3184282	\N	\N	EFO	5	EFO	Genetic infertility	X-linked intellectual disability, Van Esch type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	3184283	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Van Esch type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	6409865	\N	\N	EFO	9	EFO	material property	X-linked intellectual disability, Van Esch type
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	4391972	\N	\N	EFO	6	EFO	genetic disorder	X-linked intellectual disability, Van Esch type
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	4391973	\N	\N	EFO	6	EFO	reproductive system disease	X-linked intellectual disability, Van Esch type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	6807715	\N	\N	EFO	10	EFO	experimental factor	X-linked intellectual disability, Van Esch type
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163976	"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." []	5410902	\N	\N	EFO	7	EFO	disease	X-linked intellectual disability, Van Esch type
Orphanet:163979	\N	\N	"" []	Orphanet:163979	"" []	73823	\N	\N	EFO	0	EFO	X-linked intellectual disability - craniofacioskeletal syndrome	X-linked intellectual disability - craniofacioskeletal syndrome
Orphanet:98464	Orphanet:163979	\N	"" []	Orphanet:163979	"" []	215405	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - craniofacioskeletal syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:163979	"" []	569590	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - craniofacioskeletal syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163979	"" []	1151430	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - craniofacioskeletal syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163979	"" []	2033804	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - craniofacioskeletal syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163979	"" []	3184284	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - craniofacioskeletal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163979	"" []	4391975	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - craniofacioskeletal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163979	"" []	5410903	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - craniofacioskeletal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163979	"" []	6148426	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - craniofacioskeletal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163979	"" []	6632196	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - craniofacioskeletal syndrome
Orphanet:163982	\N	\N	"" []	Orphanet:163982	"" []	73824	\N	\N	EFO	0	EFO	X-linked intellectual disability - spastic quadriparesis	X-linked intellectual disability - spastic quadriparesis
Orphanet:98464	Orphanet:163982	\N	"" []	Orphanet:163982	"" []	215406	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - spastic quadriparesis
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:163982	"" []	569591	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - spastic quadriparesis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163982	"" []	1151431	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - spastic quadriparesis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163982	"" []	2033805	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - spastic quadriparesis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163982	"" []	3184285	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - spastic quadriparesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163982	"" []	4391976	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - spastic quadriparesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163982	"" []	5410904	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - spastic quadriparesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163982	"" []	6148427	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - spastic quadriparesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163982	"" []	6632197	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - spastic quadriparesis
Orphanet:163985	\N	\N	"" []	Orphanet:163985	"" []	73825	\N	\N	EFO	0	EFO	Hyperekplexia - epilepsy	Hyperekplexia - epilepsy
Orphanet:183521	Orphanet:163985	\N	"" []	Orphanet:163985	"" []	215407	\N	\N	EFO	1	EFO	Rare genetic movement disorder	Hyperekplexia - epilepsy
Orphanet:2076	Orphanet:163985	\N	"" []	Orphanet:163985	"" []	215408	\N	\N	EFO	1	EFO	X-linked intellectual disability - epilepsy	Hyperekplexia - epilepsy
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:163985	"" []	569592	\N	\N	EFO	2	EFO	movement disorder	Hyperekplexia - epilepsy
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:163985	"" []	569593	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hyperekplexia - epilepsy
Orphanet:166472	Orphanet:2076	\N	"" []	Orphanet:163985	"" []	569594	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Hyperekplexia - epilepsy
Orphanet:98464	Orphanet:2076	\N	"" []	Orphanet:163985	"" []	569595	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Hyperekplexia - epilepsy
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:163985	"" []	1151432	\N	\N	EFO	3	EFO	nervous system disease	Hyperekplexia - epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163985	"" []	4391978	\N	\N	EFO	6	EFO	genetic disorder	Hyperekplexia - epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:163985	"" []	1151434	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Hyperekplexia - epilepsy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:163985	"" []	1151435	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Hyperekplexia - epilepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163985	"" []	2033806	\N	\N	EFO	4	EFO	disease	Hyperekplexia - epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163985	"" []	5028393	\N	\N	EFO	7	EFO	disease	Hyperekplexia - epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:163985	"" []	2033808	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hyperekplexia - epilepsy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163985	"" []	2033809	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Hyperekplexia - epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163985	"" []	5817503	\N	\N	EFO	8	EFO	disposition	Hyperekplexia - epilepsy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163985	"" []	3184288	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hyperekplexia - epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163985	"" []	6409866	\N	\N	EFO	9	EFO	material property	Hyperekplexia - epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163985	"" []	6807716	\N	\N	EFO	10	EFO	experimental factor	Hyperekplexia - epilepsy
Orphanet:163988	\N	\N	"" []	Orphanet:163988	"" []	73826	\N	\N	EFO	0	EFO	Developmental delay - deafness, Hildebrand type	Developmental delay - deafness, Hildebrand type
Orphanet:90642	Orphanet:163988	\N	"" []	Orphanet:163988	"" []	215409	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Developmental delay - deafness, Hildebrand type
Orphanet:98464	Orphanet:163988	\N	"" []	Orphanet:163988	"" []	215410	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Developmental delay - deafness, Hildebrand type
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:163988	"" []	569596	\N	\N	EFO	2	EFO	Rare genetic deafness	Developmental delay - deafness, Hildebrand type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:163988	"" []	569597	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Developmental delay - deafness, Hildebrand type
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163988	"" []	1151436	\N	\N	EFO	3	EFO	genetic disorder	Developmental delay - deafness, Hildebrand type
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:163988	"" []	1151437	\N	\N	EFO	3	EFO	auditory system disease	Developmental delay - deafness, Hildebrand type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:163988	"" []	1151438	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Developmental delay - deafness, Hildebrand type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163988	"" []	4391981	\N	\N	EFO	6	EFO	disease	Developmental delay - deafness, Hildebrand type
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:163988	"" []	2033811	\N	\N	EFO	4	EFO	sensory system disease	Developmental delay - deafness, Hildebrand type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:163988	"" []	2033812	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Developmental delay - deafness, Hildebrand type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:163988	"" []	5059650	\N	\N	EFO	7	EFO	disposition	Developmental delay - deafness, Hildebrand type
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:163988	"" []	3184290	\N	\N	EFO	5	EFO	nervous system disease	Developmental delay - deafness, Hildebrand type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:163988	"" []	3184291	\N	\N	EFO	5	EFO	genetic disorder	Developmental delay - deafness, Hildebrand type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:163988	"" []	5876828	\N	\N	EFO	8	EFO	material property	Developmental delay - deafness, Hildebrand type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:163988	"" []	4391980	\N	\N	EFO	6	EFO	disease	Developmental delay - deafness, Hildebrand type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:163988	"" []	6470038	\N	\N	EFO	9	EFO	experimental factor	Developmental delay - deafness, Hildebrand type
Orphanet:164001	\N	\N	"" []	Orphanet:164001	"" []	73827	\N	\N	EFO	0	EFO	Rare odontal or periodontal disorder	Rare odontal or periodontal disorder
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:164001	"" []	215411	\N	\N	EFO	1	EFO	Rare genetic odontologic disease	Rare odontal or periodontal disorder
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:164001	"" []	569598	\N	\N	EFO	2	EFO	genetic disorder	Rare odontal or periodontal disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:164001	"" []	1151439	\N	\N	EFO	3	EFO	disease	Rare odontal or periodontal disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:164001	"" []	2033813	\N	\N	EFO	4	EFO	disposition	Rare odontal or periodontal disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:164001	"" []	3184292	\N	\N	EFO	5	EFO	material property	Rare odontal or periodontal disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:164001	"" []	4391982	\N	\N	EFO	6	EFO	experimental factor	Rare odontal or periodontal disorder
Orphanet:1642	\N	\N	"" []	Orphanet:1642	"" []	73828	\N	\N	EFO	0	EFO	Distal monosomy 9p	Distal monosomy 9p
Orphanet:261929	Orphanet:1642	\N	"" []	Orphanet:1642	"" []	215412	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 9	Distal monosomy 9p
Orphanet:325638	Orphanet:1642	\N	"" []	Orphanet:1642	"" []	215413	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Distal monosomy 9p
Orphanet:98087	Orphanet:1642	\N	"" []	Orphanet:1642	"" []	215414	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	Distal monosomy 9p
Orphanet:261806	Orphanet:261929	\N	"" []	Orphanet:1642	"" []	569599	\N	\N	EFO	2	EFO	Partial deletion of chromosome 9	Distal monosomy 9p
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:1642	"" []	569600	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Distal monosomy 9p
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:1642	"" []	569601	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Distal monosomy 9p
Orphanet:98142	Orphanet:261806	\N	"" []	Orphanet:1642	"" []	1151440	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 9p
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:1642	"" []	1151441	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Distal monosomy 9p
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:1642	"" []	1151442	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Distal monosomy 9p
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:1642	"" []	2033814	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 9p
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1642	"" []	2033815	\N	\N	EFO	4	EFO	genetic disorder	Distal monosomy 9p
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:1642	"" []	2033816	\N	\N	EFO	4	EFO	reproductive system disease	Distal monosomy 9p
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:1642	"" []	2033817	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Distal monosomy 9p
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:1642	"" []	2033818	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Distal monosomy 9p
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:1642	"" []	2033819	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Distal monosomy 9p
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:1642	"" []	3184293	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 9p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1642	"" []	6148428	\N	\N	EFO	8	EFO	disease	Distal monosomy 9p
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1642	"" []	3184295	\N	\N	EFO	5	EFO	disease	Distal monosomy 9p
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1642	"" []	3184296	\N	\N	EFO	5	EFO	genetic disorder	Distal monosomy 9p
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1642	"" []	3184297	\N	\N	EFO	5	EFO	genetic disorder	Distal monosomy 9p
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1642	"" []	3184298	\N	\N	EFO	5	EFO	endocrine system disease	Distal monosomy 9p
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1642	"" []	3184299	\N	\N	EFO	5	EFO	genetic disorder	Distal monosomy 9p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1642	"" []	4391983	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 9p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1642	"" []	6409867	\N	\N	EFO	9	EFO	disposition	Distal monosomy 9p
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1642	"" []	4391986	\N	\N	EFO	6	EFO	disease	Distal monosomy 9p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1642	"" []	5410907	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 9p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1642	"" []	6807717	\N	\N	EFO	10	EFO	material property	Distal monosomy 9p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1642	"" []	7048559	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 9p
Orphanet:1643	\N	\N	"" []	Orphanet:1643	"" []	73829	\N	\N	EFO	0	EFO	Xp22.3 microdeletion syndrome	Xp22.3 microdeletion syndrome
Orphanet:263731	Orphanet:1643	\N	"" []	Orphanet:1643	"" []	215415	\N	\N	EFO	1	EFO	Partial monosomy of the short arm of chromosome X	Xp22.3 microdeletion syndrome
Orphanet:263726	Orphanet:263731	\N	"" []	Orphanet:1643	"" []	569602	\N	\N	EFO	2	EFO	Partial deletion of chromosome X	Xp22.3 microdeletion syndrome
Orphanet:98159	Orphanet:263726	\N	"" []	Orphanet:1643	"" []	1151443	\N	\N	EFO	3	EFO	Chromosome X structural anomaly	Xp22.3 microdeletion syndrome
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:1643	"" []	2033820	\N	\N	EFO	4	EFO	Gonosome structural anomaly	Xp22.3 microdeletion syndrome
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:1643	"" []	3184300	\N	\N	EFO	5	EFO	Gonosome anomaly	Xp22.3 microdeletion syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:1643	"" []	4391987	\N	\N	EFO	6	EFO	Chromosomal anomaly	Xp22.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1643	"" []	5410909	\N	\N	EFO	7	EFO	genetic disorder	Xp22.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1643	"" []	6148430	\N	\N	EFO	8	EFO	disease	Xp22.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1643	"" []	6632198	\N	\N	EFO	9	EFO	disposition	Xp22.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1643	"" []	6925432	\N	\N	EFO	10	EFO	material property	Xp22.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1643	"" []	7099019	\N	\N	EFO	11	EFO	experimental factor	Xp22.3 microdeletion syndrome
Orphanet:1646	\N	\N	"" []	Orphanet:1646	"" []	73830	\N	\N	EFO	0	EFO	Partial chromosome Y deletion	Partial chromosome Y deletion
Orphanet:399775	Orphanet:1646	\N	"" []	Orphanet:1646	"" []	215416	\N	\N	EFO	1	EFO	Male infertility with spermatogenesis disorder	Partial chromosome Y deletion
Orphanet:98158	Orphanet:1646	\N	"" []	Orphanet:1646	"" []	215417	\N	\N	EFO	1	EFO	Chromosome Y structural anomaly	Partial chromosome Y deletion
Orphanet:399771	Orphanet:399775	\N	"" []	Orphanet:1646	"" []	569603	\N	\N	EFO	2	EFO	Male infertility due to sperm disorder	Partial chromosome Y deletion
Orphanet:98157	Orphanet:98158	\N	"" []	Orphanet:1646	"" []	569604	\N	\N	EFO	2	EFO	Gonosome structural anomaly	Partial chromosome Y deletion
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:1646	"" []	1151444	\N	\N	EFO	3	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Partial chromosome Y deletion
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:1646	"" []	1151445	\N	\N	EFO	3	EFO	Gonosome anomaly	Partial chromosome Y deletion
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:1646	"" []	2033821	\N	\N	EFO	4	EFO	Rare genetic male infertility	Partial chromosome Y deletion
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:1646	"" []	2033822	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial chromosome Y deletion
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:1646	"" []	3184301	\N	\N	EFO	5	EFO	Genetic infertility	Partial chromosome Y deletion
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1646	"" []	3184302	\N	\N	EFO	5	EFO	genetic disorder	Partial chromosome Y deletion
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1646	"" []	4391988	\N	\N	EFO	6	EFO	genetic disorder	Partial chromosome Y deletion
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:1646	"" []	4391989	\N	\N	EFO	6	EFO	reproductive system disease	Partial chromosome Y deletion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1646	"" []	5410910	\N	\N	EFO	7	EFO	disease	Partial chromosome Y deletion
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1646	"" []	5410911	\N	\N	EFO	7	EFO	disease	Partial chromosome Y deletion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1646	"" []	5997080	\N	\N	EFO	8	EFO	disposition	Partial chromosome Y deletion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1646	"" []	6550623	\N	\N	EFO	9	EFO	material property	Partial chromosome Y deletion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1646	"" []	6889058	\N	\N	EFO	10	EFO	experimental factor	Partial chromosome Y deletion
Orphanet:1647	\N	\N	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	73831	\N	\N	EFO	0	EFO	Oculocerebrocutaneous syndrome	Oculocerebrocutaneous syndrome
Orphanet:108987	Orphanet:1647	\N	"" []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	215418	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Oculocerebrocutaneous syndrome
Orphanet:166463	Orphanet:1647	\N	"" []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	215419	\N	\N	EFO	1	EFO	Epilepsy syndrome	Oculocerebrocutaneous syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	569605	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Oculocerebrocutaneous syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	569606	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Oculocerebrocutaneous syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	1151446	\N	\N	EFO	3	EFO	Rare genetic eye disease	Oculocerebrocutaneous syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	1151447	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculocerebrocutaneous syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	1151448	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Oculocerebrocutaneous syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	2033823	\N	\N	EFO	4	EFO	genetic disorder	Oculocerebrocutaneous syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	2033824	\N	\N	EFO	4	EFO	eye disease	Oculocerebrocutaneous syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	2033825	\N	\N	EFO	4	EFO	genetic disorder	Oculocerebrocutaneous syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	2033826	\N	\N	EFO	4	EFO	genetic disorder	Oculocerebrocutaneous syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	3184303	\N	\N	EFO	5	EFO	disease	Oculocerebrocutaneous syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	3184304	\N	\N	EFO	5	EFO	disease	Oculocerebrocutaneous syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	4391991	\N	\N	EFO	6	EFO	disposition	Oculocerebrocutaneous syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	5410913	\N	\N	EFO	7	EFO	material property	Oculocerebrocutaneous syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1647	"Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." []	6148432	\N	\N	EFO	8	EFO	experimental factor	Oculocerebrocutaneous syndrome
Orphanet:164736	\N	\N	"" []	Orphanet:164736	"" []	73832	\N	\N	EFO	0	EFO	Familial advanced sleep-phase syndrome	Familial advanced sleep-phase syndrome
Orphanet:71859	Orphanet:164736	\N	"" []	Orphanet:164736	"" []	215420	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Familial advanced sleep-phase syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:164736	"" []	569607	\N	\N	EFO	2	EFO	genetic disorder	Familial advanced sleep-phase syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:164736	"" []	1151449	\N	\N	EFO	3	EFO	disease	Familial advanced sleep-phase syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:164736	"" []	2033827	\N	\N	EFO	4	EFO	disposition	Familial advanced sleep-phase syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:164736	"" []	3184305	\N	\N	EFO	5	EFO	material property	Familial advanced sleep-phase syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:164736	"" []	4391992	\N	\N	EFO	6	EFO	experimental factor	Familial advanced sleep-phase syndrome
Orphanet:165	\N	\N	"" []	Orphanet:165	"" []	73833	\N	\N	EFO	0	EFO	Neutral lipid storage disease	Neutral lipid storage disease
Orphanet:206953	Orphanet:165	\N	"" []	Orphanet:165	"" []	215421	\N	\N	EFO	1	EFO	Muscular lipidosis	Neutral lipid storage disease
Orphanet:352312	Orphanet:165	\N	"" []	Orphanet:165	"" []	215422	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	Neutral lipid storage disease
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:165	"" []	569608	\N	\N	EFO	2	EFO	Metabolic myopathy	Neutral lipid storage disease
Orphanet:352301	Orphanet:352312	\N	"" []	Orphanet:165	"" []	569609	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Neutral lipid storage disease
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:165	"" []	1151450	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Neutral lipid storage disease
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:165	"" []	1151451	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Neutral lipid storage disease
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:165	"" []	2033828	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Neutral lipid storage disease
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:165	"" []	2033829	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Neutral lipid storage disease
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:165	"" []	3184306	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Neutral lipid storage disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165	"" []	3184307	\N	\N	EFO	5	EFO	genetic disorder	Neutral lipid storage disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:165	"" []	3184308	\N	\N	EFO	5	EFO	metabolic disease	Neutral lipid storage disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:165	"" []	4391993	\N	\N	EFO	6	EFO	muscular disease	Neutral lipid storage disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:165	"" []	4391994	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Neutral lipid storage disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165	"" []	6148434	\N	\N	EFO	8	EFO	disease	Neutral lipid storage disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165	"" []	4391996	\N	\N	EFO	6	EFO	disease	Neutral lipid storage disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:165	"" []	5410914	\N	\N	EFO	7	EFO	skeletal system disease	Neutral lipid storage disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165	"" []	5410915	\N	\N	EFO	7	EFO	genetic disorder	Neutral lipid storage disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:165	"" []	6470039	\N	\N	EFO	9	EFO	disposition	Neutral lipid storage disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165	"" []	6148433	\N	\N	EFO	8	EFO	disease	Neutral lipid storage disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:165	"" []	6848318	\N	\N	EFO	10	EFO	material property	Neutral lipid storage disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:165	"" []	7068385	\N	\N	EFO	11	EFO	experimental factor	Neutral lipid storage disease
Orphanet:1652	\N	\N	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	Orphanet:1652	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	73834	\N	\N	EFO	0	EFO	Dent disease	Dent disease
EFO:0003086	Orphanet:1652	\N	"A disease affecting the kidneys" []	Orphanet:1652	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	215423	\N	\N	EFO	1	EFO	kidney disease	Dent disease
Orphanet:183592	Orphanet:1652	\N	"" []	Orphanet:1652	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	215424	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Dent disease
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1652	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	569610	\N	\N	EFO	2	EFO	disease	Dent disease
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:1652	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	569611	\N	\N	EFO	2	EFO	Rare genetic renal disease	Dent disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1652	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	3184310	\N	\N	EFO	5	EFO	disposition	Dent disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1652	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	1151453	\N	\N	EFO	3	EFO	genetic disorder	Dent disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1652	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	4066864	\N	\N	EFO	6	EFO	material property	Dent disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1652	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	2033831	\N	\N	EFO	4	EFO	disease	Dent disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1652	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	5059651	\N	\N	EFO	7	EFO	experimental factor	Dent disease
Orphanet:1653	\N	\N	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	Orphanet:1653	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	73835	\N	\N	EFO	0	EFO	Dentin dysplasia	Dentin dysplasia
Orphanet:167759	Orphanet:1653	\N	"" []	Orphanet:1653	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	215425	\N	\N	EFO	1	EFO	Hereditary dentin defect	Dentin dysplasia
Orphanet:164001	Orphanet:167759	\N	"" []	Orphanet:1653	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	569612	\N	\N	EFO	2	EFO	Rare odontal or periodontal disorder	Dentin dysplasia
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:1653	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	1151454	\N	\N	EFO	3	EFO	Rare genetic odontologic disease	Dentin dysplasia
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1653	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	2033832	\N	\N	EFO	4	EFO	genetic disorder	Dentin dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1653	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	3184311	\N	\N	EFO	5	EFO	disease	Dentin dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1653	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	4391997	\N	\N	EFO	6	EFO	disposition	Dentin dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1653	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	5410917	\N	\N	EFO	7	EFO	material property	Dentin dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1653	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	6148436	\N	\N	EFO	8	EFO	experimental factor	Dentin dysplasia
Orphanet:1654	\N	\N	"" []	Orphanet:1654	"" []	73836	\N	\N	EFO	0	EFO	Natal teeth - intestinal pseudoobstruction - patent ductus	Natal teeth - intestinal pseudoobstruction - patent ductus
Orphanet:183580	Orphanet:1654	\N	"" []	Orphanet:1654	"" []	215426	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Natal teeth - intestinal pseudoobstruction - patent ductus
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:1654	"" []	569613	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Natal teeth - intestinal pseudoobstruction - patent ductus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1654	"" []	1151455	\N	\N	EFO	3	EFO	genetic disorder	Natal teeth - intestinal pseudoobstruction - patent ductus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1654	"" []	2033833	\N	\N	EFO	4	EFO	disease	Natal teeth - intestinal pseudoobstruction - patent ductus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1654	"" []	3184312	\N	\N	EFO	5	EFO	disposition	Natal teeth - intestinal pseudoobstruction - patent ductus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1654	"" []	4391998	\N	\N	EFO	6	EFO	material property	Natal teeth - intestinal pseudoobstruction - patent ductus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1654	"" []	5410918	\N	\N	EFO	7	EFO	experimental factor	Natal teeth - intestinal pseudoobstruction - patent ductus
Orphanet:1655	\N	\N	"" []	Orphanet:1655	"" []	73837	\N	\N	EFO	0	EFO	Mllerian derivatives - lymphangiectasia - polydactyly	Mllerian derivatives - lymphangiectasia - polydactyly
Orphanet:89832	Orphanet:1655	\N	"" []	Orphanet:1655	"" []	215427	\N	\N	EFO	1	EFO	Syndromic lymphedema	Mllerian derivatives - lymphangiectasia - polydactyly
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:1655	"" []	569614	\N	\N	EFO	2	EFO	Lymphedema	Mllerian derivatives - lymphangiectasia - polydactyly
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:1655	"" []	1151456	\N	\N	EFO	3	EFO	Rare genetic skin disease	Mllerian derivatives - lymphangiectasia - polydactyly
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1655	"" []	2033834	\N	\N	EFO	4	EFO	genetic disorder	Mllerian derivatives - lymphangiectasia - polydactyly
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1655	"" []	2033835	\N	\N	EFO	4	EFO	skin disease	Mllerian derivatives - lymphangiectasia - polydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1655	"" []	3184313	\N	\N	EFO	5	EFO	disease	Mllerian derivatives - lymphangiectasia - polydactyly
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1655	"" []	3184314	\N	\N	EFO	5	EFO	disease	Mllerian derivatives - lymphangiectasia - polydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1655	"" []	4391999	\N	\N	EFO	6	EFO	disposition	Mllerian derivatives - lymphangiectasia - polydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1655	"" []	5410919	\N	\N	EFO	7	EFO	material property	Mllerian derivatives - lymphangiectasia - polydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1655	"" []	6148437	\N	\N	EFO	8	EFO	experimental factor	Mllerian derivatives - lymphangiectasia - polydactyly
Orphanet:165652	\N	\N	"" []	Orphanet:165652	"" []	73838	\N	\N	EFO	0	EFO	Rare genetic gastroenterological disease	Rare genetic gastroenterological disease
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165652	"" []	215428	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic gastroenterological disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165652	"" []	569615	\N	\N	EFO	2	EFO	disease	Rare genetic gastroenterological disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:165652	"" []	1151457	\N	\N	EFO	3	EFO	disposition	Rare genetic gastroenterological disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:165652	"" []	2033836	\N	\N	EFO	4	EFO	material property	Rare genetic gastroenterological disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:165652	"" []	3184315	\N	\N	EFO	5	EFO	experimental factor	Rare genetic gastroenterological disease
Orphanet:165655	\N	\N	"" []	Orphanet:165655	"" []	73839	\N	\N	EFO	0	EFO	Genetic intestinal disease	Genetic intestinal disease
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:165655	"" []	215429	\N	\N	EFO	1	EFO	digestive system disease	Genetic intestinal disease
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:165655	"" []	215430	\N	\N	EFO	1	EFO	Rare genetic gastroenterological disease	Genetic intestinal disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165655	"" []	569616	\N	\N	EFO	2	EFO	disease	Genetic intestinal disease
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165655	"" []	569617	\N	\N	EFO	2	EFO	genetic disorder	Genetic intestinal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:165655	"" []	2033838	\N	\N	EFO	4	EFO	disposition	Genetic intestinal disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165655	"" []	1151459	\N	\N	EFO	3	EFO	disease	Genetic intestinal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:165655	"" []	3000147	\N	\N	EFO	5	EFO	material property	Genetic intestinal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:165655	"" []	4133362	\N	\N	EFO	6	EFO	experimental factor	Genetic intestinal disease
Orphanet:165658	\N	\N	"" []	Orphanet:165658	"" []	73840	\N	\N	EFO	0	EFO	Genetic gastro-esophageal disease	Genetic gastro-esophageal disease
EFO:0000405	Orphanet:165658	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:165658	"" []	215431	\N	\N	EFO	1	EFO	digestive system disease	Genetic gastro-esophageal disease
Orphanet:165652	Orphanet:165658	\N	"" []	Orphanet:165658	"" []	215432	\N	\N	EFO	1	EFO	Rare genetic gastroenterological disease	Genetic gastro-esophageal disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165658	"" []	569618	\N	\N	EFO	2	EFO	disease	Genetic gastro-esophageal disease
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165658	"" []	569619	\N	\N	EFO	2	EFO	genetic disorder	Genetic gastro-esophageal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:165658	"" []	2033840	\N	\N	EFO	4	EFO	disposition	Genetic gastro-esophageal disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165658	"" []	1151461	\N	\N	EFO	3	EFO	disease	Genetic gastro-esophageal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:165658	"" []	3000148	\N	\N	EFO	5	EFO	material property	Genetic gastro-esophageal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:165658	"" []	4133363	\N	\N	EFO	6	EFO	experimental factor	Genetic gastro-esophageal disease
Orphanet:165661	\N	\N	"" []	Orphanet:165661	"" []	73841	\N	\N	EFO	0	EFO	Genetic pancreatic disease	Genetic pancreatic disease
EFO:0001379	Orphanet:165661	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:165661	"" []	215433	\N	\N	EFO	1	EFO	endocrine system disease	Genetic pancreatic disease
Orphanet:165652	Orphanet:165661	\N	"" []	Orphanet:165661	"" []	215434	\N	\N	EFO	1	EFO	Rare genetic gastroenterological disease	Genetic pancreatic disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165661	"" []	569620	\N	\N	EFO	2	EFO	disease	Genetic pancreatic disease
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165661	"" []	569621	\N	\N	EFO	2	EFO	genetic disorder	Genetic pancreatic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:165661	"" []	2033842	\N	\N	EFO	4	EFO	disposition	Genetic pancreatic disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165661	"" []	1151463	\N	\N	EFO	3	EFO	disease	Genetic pancreatic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:165661	"" []	3000149	\N	\N	EFO	5	EFO	material property	Genetic pancreatic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:165661	"" []	4133364	\N	\N	EFO	6	EFO	experimental factor	Genetic pancreatic disease
Orphanet:1657	\N	\N	"" []	Orphanet:1657	"" []	73842	\N	\N	EFO	0	EFO	Dermatoosteolysis, Kirghizian type	Dermatoosteolysis, Kirghizian type
Orphanet:79373	Orphanet:1657	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1657	"" []	215435	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Dermatoosteolysis, Kirghizian type
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1657	"" []	569622	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Dermatoosteolysis, Kirghizian type
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1657	"" []	569623	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Dermatoosteolysis, Kirghizian type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1657	"" []	1151464	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dermatoosteolysis, Kirghizian type
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1657	"" []	1151465	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dermatoosteolysis, Kirghizian type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1657	"" []	2033843	\N	\N	EFO	4	EFO	genetic disorder	Dermatoosteolysis, Kirghizian type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1657	"" []	2033844	\N	\N	EFO	4	EFO	genetic disorder	Dermatoosteolysis, Kirghizian type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1657	"" []	2033845	\N	\N	EFO	4	EFO	skin disease	Dermatoosteolysis, Kirghizian type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1657	"" []	3184319	\N	\N	EFO	5	EFO	disease	Dermatoosteolysis, Kirghizian type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1657	"" []	3184320	\N	\N	EFO	5	EFO	disease	Dermatoosteolysis, Kirghizian type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1657	"" []	4392000	\N	\N	EFO	6	EFO	disposition	Dermatoosteolysis, Kirghizian type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1657	"" []	5410920	\N	\N	EFO	7	EFO	material property	Dermatoosteolysis, Kirghizian type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1657	"" []	6148438	\N	\N	EFO	8	EFO	experimental factor	Dermatoosteolysis, Kirghizian type
Orphanet:165707	\N	\N	"" []	Orphanet:165707	"" []	73843	\N	\N	EFO	0	EFO	Syndromic urogenital tract malformation	Syndromic urogenital tract malformation
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:165707	"" []	215436	\N	\N	EFO	1	EFO	Genetic urogenital tract malformation	Syndromic urogenital tract malformation
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:165707	"" []	569624	\N	\N	EFO	2	EFO	Rare genetic urogenital disease	Syndromic urogenital tract malformation
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165707	"" []	1151466	\N	\N	EFO	3	EFO	genetic disorder	Syndromic urogenital tract malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165707	"" []	2033846	\N	\N	EFO	4	EFO	disease	Syndromic urogenital tract malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:165707	"" []	3184321	\N	\N	EFO	5	EFO	disposition	Syndromic urogenital tract malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:165707	"" []	4392001	\N	\N	EFO	6	EFO	material property	Syndromic urogenital tract malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:165707	"" []	5410921	\N	\N	EFO	7	EFO	experimental factor	Syndromic urogenital tract malformation
Orphanet:1658	\N	\N	"" []	Orphanet:1658	"" []	73844	\N	\N	EFO	0	EFO	Absence of fingerprints - congenital milia	Absence of fingerprints - congenital milia
Orphanet:79360	Orphanet:1658	\N	"" []	Orphanet:1658	"" []	215437	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Absence of fingerprints - congenital milia
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:1658	"" []	569625	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Absence of fingerprints - congenital milia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:1658	"" []	1151467	\N	\N	EFO	3	EFO	Rare genetic skin disease	Absence of fingerprints - congenital milia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1658	"" []	2033847	\N	\N	EFO	4	EFO	genetic disorder	Absence of fingerprints - congenital milia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1658	"" []	2033848	\N	\N	EFO	4	EFO	skin disease	Absence of fingerprints - congenital milia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1658	"" []	3184322	\N	\N	EFO	5	EFO	disease	Absence of fingerprints - congenital milia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1658	"" []	3184323	\N	\N	EFO	5	EFO	disease	Absence of fingerprints - congenital milia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1658	"" []	4392002	\N	\N	EFO	6	EFO	disposition	Absence of fingerprints - congenital milia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1658	"" []	5410922	\N	\N	EFO	7	EFO	material property	Absence of fingerprints - congenital milia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1658	"" []	6148439	\N	\N	EFO	8	EFO	experimental factor	Absence of fingerprints - congenital milia
Orphanet:165805	\N	\N	"" []	Orphanet:165805	"" []	73845	\N	\N	EFO	0	EFO	Familial mesial temporal lobe epilepsy with febrile seizures	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:309	Orphanet:165805	\N	"" []	Orphanet:165805	"" []	215438	\N	\N	EFO	1	EFO	Familial partial epilepsy	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:165805	"" []	569626	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:165805	"" []	569627	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:165805	"" []	569628	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:165805	"" []	569629	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:165805	"" []	1151468	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:165805	"" []	1151469	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:165805	"" []	1151470	\N	\N	EFO	3	EFO	Epilepsy syndrome	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:165805	"" []	1151471	\N	\N	EFO	3	EFO	Epilepsy syndrome	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:165805	"" []	3184325	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:165805	"" []	2033850	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:165805	"" []	2033851	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Familial mesial temporal lobe epilepsy with febrile seizures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165805	"" []	4133365	\N	\N	EFO	6	EFO	genetic disorder	Familial mesial temporal lobe epilepsy with febrile seizures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165805	"" []	5181705	\N	\N	EFO	7	EFO	disease	Familial mesial temporal lobe epilepsy with febrile seizures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:165805	"" []	5997081	\N	\N	EFO	8	EFO	disposition	Familial mesial temporal lobe epilepsy with febrile seizures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:165805	"" []	6550624	\N	\N	EFO	9	EFO	material property	Familial mesial temporal lobe epilepsy with febrile seizures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:165805	"" []	6889059	\N	\N	EFO	10	EFO	experimental factor	Familial mesial temporal lobe epilepsy with febrile seizures
Orphanet:165985	\N	\N	"" []	Orphanet:165985	"" []	73846	\N	\N	EFO	0	EFO	Diazoxide-sensitive diffuse hyperinsulinism	Diazoxide-sensitive diffuse hyperinsulinism
Orphanet:657	Orphanet:165985	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:165985	"" []	215439	\N	\N	EFO	1	EFO	Congenital isolated hyperinsulinism	Diazoxide-sensitive diffuse hyperinsulinism
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:165985	"" []	569630	\N	\N	EFO	2	EFO	Familial hyperinsulinism	Diazoxide-sensitive diffuse hyperinsulinism
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:165985	"" []	569631	\N	\N	EFO	2	EFO	Overgrowth syndrome	Diazoxide-sensitive diffuse hyperinsulinism
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:165985	"" []	1151472	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Diazoxide-sensitive diffuse hyperinsulinism
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:165985	"" []	1151473	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Diazoxide-sensitive diffuse hyperinsulinism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165985	"" []	2033852	\N	\N	EFO	4	EFO	genetic disorder	Diazoxide-sensitive diffuse hyperinsulinism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:165985	"" []	2033853	\N	\N	EFO	4	EFO	endocrine system disease	Diazoxide-sensitive diffuse hyperinsulinism
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:165985	"" []	2033854	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Diazoxide-sensitive diffuse hyperinsulinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165985	"" []	4392005	\N	\N	EFO	6	EFO	disease	Diazoxide-sensitive diffuse hyperinsulinism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165985	"" []	3184327	\N	\N	EFO	5	EFO	disease	Diazoxide-sensitive diffuse hyperinsulinism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165985	"" []	3184328	\N	\N	EFO	5	EFO	genetic disorder	Diazoxide-sensitive diffuse hyperinsulinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:165985	"" []	5181706	\N	\N	EFO	7	EFO	disposition	Diazoxide-sensitive diffuse hyperinsulinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:165985	"" []	5997082	\N	\N	EFO	8	EFO	material property	Diazoxide-sensitive diffuse hyperinsulinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:165985	"" []	6550625	\N	\N	EFO	9	EFO	experimental factor	Diazoxide-sensitive diffuse hyperinsulinism
Orphanet:165988	\N	\N	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	73847	\N	\N	EFO	0	EFO	Diazoxide-resistant diffuse hyperinsulinism	Diazoxide-resistant diffuse hyperinsulinism
Orphanet:276585	Orphanet:165988	\N	"" []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	215440	\N	\N	EFO	1	EFO	Diazoxide-resistant hyperinsulinism	Diazoxide-resistant diffuse hyperinsulinism
Orphanet:657	Orphanet:276585	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	569632	\N	\N	EFO	2	EFO	Congenital isolated hyperinsulinism	Diazoxide-resistant diffuse hyperinsulinism
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	1151474	\N	\N	EFO	3	EFO	Familial hyperinsulinism	Diazoxide-resistant diffuse hyperinsulinism
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	1151475	\N	\N	EFO	3	EFO	Overgrowth syndrome	Diazoxide-resistant diffuse hyperinsulinism
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	2033855	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Diazoxide-resistant diffuse hyperinsulinism
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	2033856	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Diazoxide-resistant diffuse hyperinsulinism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	3184329	\N	\N	EFO	5	EFO	genetic disorder	Diazoxide-resistant diffuse hyperinsulinism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	3184330	\N	\N	EFO	5	EFO	endocrine system disease	Diazoxide-resistant diffuse hyperinsulinism
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	3184331	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Diazoxide-resistant diffuse hyperinsulinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	5410926	\N	\N	EFO	7	EFO	disease	Diazoxide-resistant diffuse hyperinsulinism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	4392007	\N	\N	EFO	6	EFO	disease	Diazoxide-resistant diffuse hyperinsulinism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	4392008	\N	\N	EFO	6	EFO	genetic disorder	Diazoxide-resistant diffuse hyperinsulinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	5997083	\N	\N	EFO	8	EFO	disposition	Diazoxide-resistant diffuse hyperinsulinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	6550626	\N	\N	EFO	9	EFO	material property	Diazoxide-resistant diffuse hyperinsulinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:165988	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	6889060	\N	\N	EFO	10	EFO	experimental factor	Diazoxide-resistant diffuse hyperinsulinism
Orphanet:165991	\N	\N	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	73848	\N	\N	EFO	0	EFO	Exercise-induced hyperinsulinism	Exercise-induced hyperinsulinism
Orphanet:165985	Orphanet:165991	\N	"" []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	215441	\N	\N	EFO	1	EFO	Diazoxide-sensitive diffuse hyperinsulinism	Exercise-induced hyperinsulinism
Orphanet:309001	Orphanet:165991	\N	"" []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	215442	\N	\N	EFO	1	EFO	Disorder of carbohydrate absorption and transport	Exercise-induced hyperinsulinism
Orphanet:657	Orphanet:165985	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	569633	\N	\N	EFO	2	EFO	Congenital isolated hyperinsulinism	Exercise-induced hyperinsulinism
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	569634	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Exercise-induced hyperinsulinism
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	1151476	\N	\N	EFO	3	EFO	Familial hyperinsulinism	Exercise-induced hyperinsulinism
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	1151477	\N	\N	EFO	3	EFO	Overgrowth syndrome	Exercise-induced hyperinsulinism
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	1151478	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Exercise-induced hyperinsulinism
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	2033857	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Exercise-induced hyperinsulinism
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	2033858	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Exercise-induced hyperinsulinism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	2033859	\N	\N	EFO	4	EFO	genetic disorder	Exercise-induced hyperinsulinism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	2033860	\N	\N	EFO	4	EFO	metabolic disease	Exercise-induced hyperinsulinism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	3184332	\N	\N	EFO	5	EFO	genetic disorder	Exercise-induced hyperinsulinism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	3184333	\N	\N	EFO	5	EFO	endocrine system disease	Exercise-induced hyperinsulinism
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	3184334	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Exercise-induced hyperinsulinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	5410927	\N	\N	EFO	7	EFO	disease	Exercise-induced hyperinsulinism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	3184336	\N	\N	EFO	5	EFO	disease	Exercise-induced hyperinsulinism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	4392010	\N	\N	EFO	6	EFO	disease	Exercise-induced hyperinsulinism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	4392011	\N	\N	EFO	6	EFO	genetic disorder	Exercise-induced hyperinsulinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	5876829	\N	\N	EFO	8	EFO	disposition	Exercise-induced hyperinsulinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	6470040	\N	\N	EFO	9	EFO	material property	Exercise-induced hyperinsulinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:165991	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	6848319	\N	\N	EFO	10	EFO	experimental factor	Exercise-induced hyperinsulinism
Orphanet:165994	\N	\N	"" []	Orphanet:165994	"" []	73849	\N	\N	EFO	0	EFO	Selective pituitary resistance to thyroid hormone	Selective pituitary resistance to thyroid hormone
Orphanet:181399	Orphanet:165994	\N	"" []	Orphanet:165994	"" []	215443	\N	\N	EFO	1	EFO	Rare hyperthyroidism	Selective pituitary resistance to thyroid hormone
Orphanet:183631	Orphanet:181399	\N	"" []	Orphanet:165994	"" []	569635	\N	\N	EFO	2	EFO	Rare genetic thyroid disease	Selective pituitary resistance to thyroid hormone
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:165994	"" []	1151479	\N	\N	EFO	3	EFO	thyroid disease	Selective pituitary resistance to thyroid hormone
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:165994	"" []	1151480	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Selective pituitary resistance to thyroid hormone
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:165994	"" []	2033861	\N	\N	EFO	4	EFO	endocrine system disease	Selective pituitary resistance to thyroid hormone
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:165994	"" []	2033862	\N	\N	EFO	4	EFO	genetic disorder	Selective pituitary resistance to thyroid hormone
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:165994	"" []	2033863	\N	\N	EFO	4	EFO	endocrine system disease	Selective pituitary resistance to thyroid hormone
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165994	"" []	3184337	\N	\N	EFO	5	EFO	disease	Selective pituitary resistance to thyroid hormone
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:165994	"" []	3184338	\N	\N	EFO	5	EFO	disease	Selective pituitary resistance to thyroid hormone
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:165994	"" []	4392013	\N	\N	EFO	6	EFO	disposition	Selective pituitary resistance to thyroid hormone
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:165994	"" []	5410929	\N	\N	EFO	7	EFO	material property	Selective pituitary resistance to thyroid hormone
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:165994	"" []	6148444	\N	\N	EFO	8	EFO	experimental factor	Selective pituitary resistance to thyroid hormone
Orphanet:166	\N	\N	"" []	Orphanet:166	"" []	73850	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:166	"" []	215444	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:166	"" []	569636	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166	"" []	1151481	\N	\N	EFO	3	EFO	genetic disorder	Charcot-Marie-Tooth disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166	"" []	2033864	\N	\N	EFO	4	EFO	disease	Charcot-Marie-Tooth disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166	"" []	3184339	\N	\N	EFO	5	EFO	disposition	Charcot-Marie-Tooth disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166	"" []	4392014	\N	\N	EFO	6	EFO	material property	Charcot-Marie-Tooth disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166	"" []	5410930	\N	\N	EFO	7	EFO	experimental factor	Charcot-Marie-Tooth disease
Orphanet:1660	\N	\N	"" []	Orphanet:1660	"" []	73851	\N	\N	EFO	0	EFO	Dermo-odonto dysplasia	Dermo-odonto dysplasia
Orphanet:183580	Orphanet:1660	\N	"" []	Orphanet:1660	"" []	215445	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Dermo-odonto dysplasia
Orphanet:79373	Orphanet:1660	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1660	"" []	215446	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Dermo-odonto dysplasia
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:1660	"" []	569637	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Dermo-odonto dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1660	"" []	569638	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Dermo-odonto dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1660	"" []	569639	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Dermo-odonto dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1660	"" []	2033866	\N	\N	EFO	4	EFO	genetic disorder	Dermo-odonto dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1660	"" []	1151483	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dermo-odonto dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1660	"" []	1151484	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dermo-odonto dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1660	"" []	3000150	\N	\N	EFO	5	EFO	disease	Dermo-odonto dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1660	"" []	2033867	\N	\N	EFO	4	EFO	genetic disorder	Dermo-odonto dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1660	"" []	2033868	\N	\N	EFO	4	EFO	skin disease	Dermo-odonto dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1660	"" []	4133366	\N	\N	EFO	6	EFO	disposition	Dermo-odonto dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1660	"" []	3184341	\N	\N	EFO	5	EFO	disease	Dermo-odonto dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1660	"" []	5181708	\N	\N	EFO	7	EFO	material property	Dermo-odonto dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1660	"" []	5997085	\N	\N	EFO	8	EFO	experimental factor	Dermo-odonto dysplasia
Orphanet:166002	\N	\N	"" []	Orphanet:166002	"" []	73852	\N	\N	EFO	0	EFO	Multiple epiphyseal dysplasia due to collagen 9 anomaly	Multiple epiphyseal dysplasia due to collagen 9 anomaly
Orphanet:251	Orphanet:166002	\N	"" []	Orphanet:166002	"" []	215447	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia	Multiple epiphyseal dysplasia due to collagen 9 anomaly
Orphanet:93429	Orphanet:251	\N	"" []	Orphanet:166002	"" []	569640	\N	\N	EFO	2	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Multiple epiphyseal dysplasia due to collagen 9 anomaly
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:166002	"" []	1151485	\N	\N	EFO	3	EFO	Primary bone dysplasia	Multiple epiphyseal dysplasia due to collagen 9 anomaly
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:166002	"" []	2033869	\N	\N	EFO	4	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia due to collagen 9 anomaly
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:166002	"" []	2033870	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Multiple epiphyseal dysplasia due to collagen 9 anomaly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166002	"" []	3184342	\N	\N	EFO	5	EFO	genetic disorder	Multiple epiphyseal dysplasia due to collagen 9 anomaly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:166002	"" []	3184343	\N	\N	EFO	5	EFO	bone disease	Multiple epiphyseal dysplasia due to collagen 9 anomaly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:166002	"" []	3184344	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Multiple epiphyseal dysplasia due to collagen 9 anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166002	"" []	5410934	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia due to collagen 9 anomaly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:166002	"" []	4392017	\N	\N	EFO	6	EFO	skeletal system disease	Multiple epiphyseal dysplasia due to collagen 9 anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166002	"" []	4392018	\N	\N	EFO	6	EFO	genetic disorder	Multiple epiphyseal dysplasia due to collagen 9 anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166002	"" []	5997086	\N	\N	EFO	8	EFO	disposition	Multiple epiphyseal dysplasia due to collagen 9 anomaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166002	"" []	5410933	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia due to collagen 9 anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166002	"" []	6550628	\N	\N	EFO	9	EFO	material property	Multiple epiphyseal dysplasia due to collagen 9 anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166002	"" []	6889061	\N	\N	EFO	10	EFO	experimental factor	Multiple epiphyseal dysplasia due to collagen 9 anomaly
Orphanet:166011	\N	\N	"" []	Orphanet:166011	"" []	73853	\N	\N	EFO	0	EFO	Multiple epiphyseal dysplasia, Beighton type	Multiple epiphyseal dysplasia, Beighton type
Orphanet:251	Orphanet:166011	\N	"" []	Orphanet:166011	"" []	215448	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia	Multiple epiphyseal dysplasia, Beighton type
Orphanet:93421	Orphanet:166011	\N	"" []	Orphanet:166011	"" []	215449	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Multiple epiphyseal dysplasia, Beighton type
Orphanet:93429	Orphanet:251	\N	"" []	Orphanet:166011	"" []	569641	\N	\N	EFO	2	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Multiple epiphyseal dysplasia, Beighton type
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:166011	"" []	569642	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Multiple epiphyseal dysplasia, Beighton type
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:166011	"" []	1151486	\N	\N	EFO	3	EFO	Primary bone dysplasia	Multiple epiphyseal dysplasia, Beighton type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:166011	"" []	1151487	\N	\N	EFO	3	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia, Beighton type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:166011	"" []	2033871	\N	\N	EFO	4	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia, Beighton type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:166011	"" []	2033872	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Multiple epiphyseal dysplasia, Beighton type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166011	"" []	3184345	\N	\N	EFO	5	EFO	genetic disorder	Multiple epiphyseal dysplasia, Beighton type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:166011	"" []	3184346	\N	\N	EFO	5	EFO	bone disease	Multiple epiphyseal dysplasia, Beighton type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:166011	"" []	3184347	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Multiple epiphyseal dysplasia, Beighton type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166011	"" []	5410935	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia, Beighton type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:166011	"" []	4133368	\N	\N	EFO	6	EFO	skeletal system disease	Multiple epiphyseal dysplasia, Beighton type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166011	"" []	4392019	\N	\N	EFO	6	EFO	genetic disorder	Multiple epiphyseal dysplasia, Beighton type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166011	"" []	5876830	\N	\N	EFO	8	EFO	disposition	Multiple epiphyseal dysplasia, Beighton type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166011	"" []	5181710	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia, Beighton type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166011	"" []	6470041	\N	\N	EFO	9	EFO	material property	Multiple epiphyseal dysplasia, Beighton type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166011	"" []	6848320	\N	\N	EFO	10	EFO	experimental factor	Multiple epiphyseal dysplasia, Beighton type
Orphanet:166016	\N	\N	"" []	Orphanet:166016	"" []	73854	\N	\N	EFO	0	EFO	Multiple epiphyseal dysplasia, Lowry type	Multiple epiphyseal dysplasia, Lowry type
Orphanet:251	Orphanet:166016	\N	"" []	Orphanet:166016	"" []	215450	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia	Multiple epiphyseal dysplasia, Lowry type
Orphanet:93429	Orphanet:251	\N	"" []	Orphanet:166016	"" []	569643	\N	\N	EFO	2	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Multiple epiphyseal dysplasia, Lowry type
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:166016	"" []	1151488	\N	\N	EFO	3	EFO	Primary bone dysplasia	Multiple epiphyseal dysplasia, Lowry type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:166016	"" []	2033875	\N	\N	EFO	4	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia, Lowry type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:166016	"" []	2033876	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Multiple epiphyseal dysplasia, Lowry type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166016	"" []	3184350	\N	\N	EFO	5	EFO	genetic disorder	Multiple epiphyseal dysplasia, Lowry type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:166016	"" []	3184351	\N	\N	EFO	5	EFO	bone disease	Multiple epiphyseal dysplasia, Lowry type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:166016	"" []	3184352	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Multiple epiphyseal dysplasia, Lowry type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166016	"" []	5410939	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia, Lowry type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:166016	"" []	4392023	\N	\N	EFO	6	EFO	skeletal system disease	Multiple epiphyseal dysplasia, Lowry type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166016	"" []	4392024	\N	\N	EFO	6	EFO	genetic disorder	Multiple epiphyseal dysplasia, Lowry type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166016	"" []	5997088	\N	\N	EFO	8	EFO	disposition	Multiple epiphyseal dysplasia, Lowry type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166016	"" []	5410938	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia, Lowry type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166016	"" []	6550630	\N	\N	EFO	9	EFO	material property	Multiple epiphyseal dysplasia, Lowry type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166016	"" []	6889062	\N	\N	EFO	10	EFO	experimental factor	Multiple epiphyseal dysplasia, Lowry type
Orphanet:166024	\N	\N	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	73855	\N	\N	EFO	0	EFO	Multiple epiphyseal dysplasia, Al-Gazali type	Multiple epiphyseal dysplasia, Al-Gazali type
Orphanet:251	Orphanet:166024	\N	"" []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	215451	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia	Multiple epiphyseal dysplasia, Al-Gazali type
Orphanet:93429	Orphanet:251	\N	"" []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	569644	\N	\N	EFO	2	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Multiple epiphyseal dysplasia, Al-Gazali type
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	1151489	\N	\N	EFO	3	EFO	Primary bone dysplasia	Multiple epiphyseal dysplasia, Al-Gazali type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	2033877	\N	\N	EFO	4	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia, Al-Gazali type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	2033878	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Multiple epiphyseal dysplasia, Al-Gazali type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	3184353	\N	\N	EFO	5	EFO	genetic disorder	Multiple epiphyseal dysplasia, Al-Gazali type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	3184354	\N	\N	EFO	5	EFO	bone disease	Multiple epiphyseal dysplasia, Al-Gazali type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	3184355	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Multiple epiphyseal dysplasia, Al-Gazali type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	5410942	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia, Al-Gazali type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	4392026	\N	\N	EFO	6	EFO	skeletal system disease	Multiple epiphyseal dysplasia, Al-Gazali type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	4392027	\N	\N	EFO	6	EFO	genetic disorder	Multiple epiphyseal dysplasia, Al-Gazali type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	5997089	\N	\N	EFO	8	EFO	disposition	Multiple epiphyseal dysplasia, Al-Gazali type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	5410941	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia, Al-Gazali type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	6550631	\N	\N	EFO	9	EFO	material property	Multiple epiphyseal dysplasia, Al-Gazali type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166024	"Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." []	6889063	\N	\N	EFO	10	EFO	experimental factor	Multiple epiphyseal dysplasia, Al-Gazali type
Orphanet:166029	\N	\N	"" []	Orphanet:166029	"" []	73856	\N	\N	EFO	0	EFO	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Orphanet:251	Orphanet:166029	\N	"" []	Orphanet:166029	"" []	215452	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Orphanet:93429	Orphanet:251	\N	"" []	Orphanet:166029	"" []	569645	\N	\N	EFO	2	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:166029	"" []	1151490	\N	\N	EFO	3	EFO	Primary bone dysplasia	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:166029	"" []	2033879	\N	\N	EFO	4	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:166029	"" []	2033880	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166029	"" []	3184356	\N	\N	EFO	5	EFO	genetic disorder	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:166029	"" []	3184357	\N	\N	EFO	5	EFO	bone disease	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:166029	"" []	3184358	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166029	"" []	5410945	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:166029	"" []	4392029	\N	\N	EFO	6	EFO	skeletal system disease	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166029	"" []	4392030	\N	\N	EFO	6	EFO	genetic disorder	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166029	"" []	5997090	\N	\N	EFO	8	EFO	disposition	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166029	"" []	5410944	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166029	"" []	6550632	\N	\N	EFO	9	EFO	material property	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166029	"" []	6889064	\N	\N	EFO	10	EFO	experimental factor	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Orphanet:166032	\N	\N	"" []	Orphanet:166032	"" []	73857	\N	\N	EFO	0	EFO	Multiple epiphyseal dysplasia, with miniepiphyses	Multiple epiphyseal dysplasia, with miniepiphyses
Orphanet:251	Orphanet:166032	\N	"" []	Orphanet:166032	"" []	215453	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia	Multiple epiphyseal dysplasia, with miniepiphyses
Orphanet:93429	Orphanet:251	\N	"" []	Orphanet:166032	"" []	569646	\N	\N	EFO	2	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Multiple epiphyseal dysplasia, with miniepiphyses
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:166032	"" []	1151491	\N	\N	EFO	3	EFO	Primary bone dysplasia	Multiple epiphyseal dysplasia, with miniepiphyses
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:166032	"" []	2033881	\N	\N	EFO	4	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia, with miniepiphyses
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:166032	"" []	2033882	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Multiple epiphyseal dysplasia, with miniepiphyses
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166032	"" []	3184359	\N	\N	EFO	5	EFO	genetic disorder	Multiple epiphyseal dysplasia, with miniepiphyses
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:166032	"" []	3184360	\N	\N	EFO	5	EFO	bone disease	Multiple epiphyseal dysplasia, with miniepiphyses
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:166032	"" []	3184361	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Multiple epiphyseal dysplasia, with miniepiphyses
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166032	"" []	5410948	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia, with miniepiphyses
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:166032	"" []	4392032	\N	\N	EFO	6	EFO	skeletal system disease	Multiple epiphyseal dysplasia, with miniepiphyses
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166032	"" []	4392033	\N	\N	EFO	6	EFO	genetic disorder	Multiple epiphyseal dysplasia, with miniepiphyses
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166032	"" []	5997091	\N	\N	EFO	8	EFO	disposition	Multiple epiphyseal dysplasia, with miniepiphyses
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166032	"" []	5410947	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia, with miniepiphyses
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166032	"" []	6550633	\N	\N	EFO	9	EFO	material property	Multiple epiphyseal dysplasia, with miniepiphyses
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166032	"" []	6889065	\N	\N	EFO	10	EFO	experimental factor	Multiple epiphyseal dysplasia, with miniepiphyses
Orphanet:166035	\N	\N	"" []	Orphanet:166035	"" []	73858	\N	\N	EFO	0	EFO	Metaphyseal chondrodysplasia - retinitis pigmentosa	Metaphyseal chondrodysplasia - retinitis pigmentosa
Orphanet:93430	Orphanet:166035	\N	"" []	Orphanet:166035	"" []	215454	\N	\N	EFO	1	EFO	Multiple metaphyseal dysplasia	Metaphyseal chondrodysplasia - retinitis pigmentosa
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:166035	"" []	569647	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metaphyseal chondrodysplasia - retinitis pigmentosa
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:166035	"" []	1151492	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metaphyseal chondrodysplasia - retinitis pigmentosa
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:166035	"" []	1151493	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metaphyseal chondrodysplasia - retinitis pigmentosa
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166035	"" []	2033883	\N	\N	EFO	4	EFO	genetic disorder	Metaphyseal chondrodysplasia - retinitis pigmentosa
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:166035	"" []	2033884	\N	\N	EFO	4	EFO	bone disease	Metaphyseal chondrodysplasia - retinitis pigmentosa
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:166035	"" []	2033885	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metaphyseal chondrodysplasia - retinitis pigmentosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166035	"" []	4392036	\N	\N	EFO	6	EFO	disease	Metaphyseal chondrodysplasia - retinitis pigmentosa
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:166035	"" []	3184363	\N	\N	EFO	5	EFO	skeletal system disease	Metaphyseal chondrodysplasia - retinitis pigmentosa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166035	"" []	3184364	\N	\N	EFO	5	EFO	genetic disorder	Metaphyseal chondrodysplasia - retinitis pigmentosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166035	"" []	5181711	\N	\N	EFO	7	EFO	disposition	Metaphyseal chondrodysplasia - retinitis pigmentosa
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166035	"" []	4392035	\N	\N	EFO	6	EFO	disease	Metaphyseal chondrodysplasia - retinitis pigmentosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166035	"" []	5997092	\N	\N	EFO	8	EFO	material property	Metaphyseal chondrodysplasia - retinitis pigmentosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166035	"" []	6550634	\N	\N	EFO	9	EFO	experimental factor	Metaphyseal chondrodysplasia - retinitis pigmentosa
Orphanet:166038	\N	\N	"" []	Orphanet:166038	"" []	73859	\N	\N	EFO	0	EFO	Metaphyseal chondrodysplasia, Kaitila type	Metaphyseal chondrodysplasia, Kaitila type
Orphanet:93430	Orphanet:166038	\N	"" []	Orphanet:166038	"" []	215455	\N	\N	EFO	1	EFO	Multiple metaphyseal dysplasia	Metaphyseal chondrodysplasia, Kaitila type
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:166038	"" []	569648	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metaphyseal chondrodysplasia, Kaitila type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:166038	"" []	1151494	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metaphyseal chondrodysplasia, Kaitila type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:166038	"" []	1151495	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metaphyseal chondrodysplasia, Kaitila type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166038	"" []	2033886	\N	\N	EFO	4	EFO	genetic disorder	Metaphyseal chondrodysplasia, Kaitila type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:166038	"" []	2033887	\N	\N	EFO	4	EFO	bone disease	Metaphyseal chondrodysplasia, Kaitila type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:166038	"" []	2033888	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metaphyseal chondrodysplasia, Kaitila type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166038	"" []	4392039	\N	\N	EFO	6	EFO	disease	Metaphyseal chondrodysplasia, Kaitila type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:166038	"" []	3184366	\N	\N	EFO	5	EFO	skeletal system disease	Metaphyseal chondrodysplasia, Kaitila type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166038	"" []	3184367	\N	\N	EFO	5	EFO	genetic disorder	Metaphyseal chondrodysplasia, Kaitila type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166038	"" []	5181712	\N	\N	EFO	7	EFO	disposition	Metaphyseal chondrodysplasia, Kaitila type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166038	"" []	4392038	\N	\N	EFO	6	EFO	disease	Metaphyseal chondrodysplasia, Kaitila type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166038	"" []	5997093	\N	\N	EFO	8	EFO	material property	Metaphyseal chondrodysplasia, Kaitila type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166038	"" []	6550635	\N	\N	EFO	9	EFO	experimental factor	Metaphyseal chondrodysplasia, Kaitila type
Orphanet:166063	\N	\N	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	73860	\N	\N	EFO	0	EFO	Pontocerebellar hypoplasia type 4	Pontocerebellar hypoplasia type 4
Orphanet:98523	Orphanet:166063	\N	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	215456	\N	\N	EFO	1	EFO	Non-syndromic pontocerebellar hypoplasia	Pontocerebellar hypoplasia type 4
Orphanet:269557	Orphanet:98523	\N	"" []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	569649	\N	\N	EFO	2	EFO	Genetic posterior fossa malformation	Pontocerebellar hypoplasia type 4
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	1151496	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Pontocerebellar hypoplasia type 4
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	2033889	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Pontocerebellar hypoplasia type 4
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	3184368	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pontocerebellar hypoplasia type 4
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	3184369	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pontocerebellar hypoplasia type 4
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	4392040	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	4392041	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	5410951	\N	\N	EFO	7	EFO	disease	Pontocerebellar hypoplasia type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	6148453	\N	\N	EFO	8	EFO	disposition	Pontocerebellar hypoplasia type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	6632208	\N	\N	EFO	9	EFO	material property	Pontocerebellar hypoplasia type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166063	"Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." []	6925433	\N	\N	EFO	10	EFO	experimental factor	Pontocerebellar hypoplasia type 4
Orphanet:166068	\N	\N	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	73861	\N	\N	EFO	0	EFO	Pontocerebellar hypoplasia type 5	Pontocerebellar hypoplasia type 5
Orphanet:98523	Orphanet:166068	\N	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	215457	\N	\N	EFO	1	EFO	Non-syndromic pontocerebellar hypoplasia	Pontocerebellar hypoplasia type 5
Orphanet:269557	Orphanet:98523	\N	"" []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	569650	\N	\N	EFO	2	EFO	Genetic posterior fossa malformation	Pontocerebellar hypoplasia type 5
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	1151497	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Pontocerebellar hypoplasia type 5
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	2033890	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Pontocerebellar hypoplasia type 5
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	3184370	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pontocerebellar hypoplasia type 5
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	3184371	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pontocerebellar hypoplasia type 5
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	4392042	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 5
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	4392043	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	5410952	\N	\N	EFO	7	EFO	disease	Pontocerebellar hypoplasia type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	6148454	\N	\N	EFO	8	EFO	disposition	Pontocerebellar hypoplasia type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	6632209	\N	\N	EFO	9	EFO	material property	Pontocerebellar hypoplasia type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166068	"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." []	6925434	\N	\N	EFO	10	EFO	experimental factor	Pontocerebellar hypoplasia type 5
Orphanet:166073	\N	\N	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	73862	\N	\N	EFO	0	EFO	Pontocerebellar hypoplasia type 6	Pontocerebellar hypoplasia type 6
Orphanet:35696	Orphanet:166073	\N	"" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	215458	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Pontocerebellar hypoplasia type 6
Orphanet:98523	Orphanet:166073	\N	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	215459	\N	\N	EFO	1	EFO	Non-syndromic pontocerebellar hypoplasia	Pontocerebellar hypoplasia type 6
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	569651	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Pontocerebellar hypoplasia type 6
Orphanet:269557	Orphanet:98523	\N	"" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	569652	\N	\N	EFO	2	EFO	Genetic posterior fossa malformation	Pontocerebellar hypoplasia type 6
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	1151498	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Pontocerebellar hypoplasia type 6
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	1151499	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Pontocerebellar hypoplasia type 6
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	2033891	\N	\N	EFO	4	EFO	Mitochondrial disease	Pontocerebellar hypoplasia type 6
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	2033892	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Pontocerebellar hypoplasia type 6
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	3184372	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Pontocerebellar hypoplasia type 6
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	3184373	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Pontocerebellar hypoplasia type 6
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	3184374	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pontocerebellar hypoplasia type 6
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	3184375	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pontocerebellar hypoplasia type 6
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	4392044	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Pontocerebellar hypoplasia type 6
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	4392045	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Pontocerebellar hypoplasia type 6
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	5410953	\N	\N	EFO	7	EFO	genetic disorder	Pontocerebellar hypoplasia type 6
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	4392047	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 6
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	5410954	\N	\N	EFO	7	EFO	genetic disorder	Pontocerebellar hypoplasia type 6
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	5410955	\N	\N	EFO	7	EFO	metabolic disease	Pontocerebellar hypoplasia type 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	5997094	\N	\N	EFO	8	EFO	disease	Pontocerebellar hypoplasia type 6
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	6148455	\N	\N	EFO	8	EFO	disease	Pontocerebellar hypoplasia type 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	6550636	\N	\N	EFO	9	EFO	disposition	Pontocerebellar hypoplasia type 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	6889066	\N	\N	EFO	10	EFO	material property	Pontocerebellar hypoplasia type 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166073	"Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." []	7085905	\N	\N	EFO	11	EFO	experimental factor	Pontocerebellar hypoplasia type 6
Orphanet:166078	\N	\N	"" []	Orphanet:166078	"" []	73863	\N	\N	EFO	0	EFO	Von Willebrand disease type 1	Von Willebrand disease type 1
Orphanet:903	Orphanet:166078	\N	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	Orphanet:166078	"" []	215460	\N	\N	EFO	1	EFO	Von Willebrand disease	Von Willebrand disease type 1
Orphanet:68334	Orphanet:903	\N	"" []	Orphanet:166078	"" []	569653	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Von Willebrand disease type 1
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:166078	"" []	1151500	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Von Willebrand disease type 1
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:166078	"" []	2033893	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Von Willebrand disease type 1
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166078	"" []	3184376	\N	\N	EFO	5	EFO	genetic disorder	Von Willebrand disease type 1
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:166078	"" []	3184377	\N	\N	EFO	5	EFO	hematological system disease	Von Willebrand disease type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166078	"" []	4392048	\N	\N	EFO	6	EFO	disease	Von Willebrand disease type 1
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166078	"" []	4392049	\N	\N	EFO	6	EFO	disease	Von Willebrand disease type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166078	"" []	5410957	\N	\N	EFO	7	EFO	disposition	Von Willebrand disease type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166078	"" []	6148457	\N	\N	EFO	8	EFO	material property	Von Willebrand disease type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166078	"" []	6632211	\N	\N	EFO	9	EFO	experimental factor	Von Willebrand disease type 1
Orphanet:166081	\N	\N	"" []	Orphanet:166081	"" []	73864	\N	\N	EFO	0	EFO	Von Willebrand disease type 2	Von Willebrand disease type 2
Orphanet:903	Orphanet:166081	\N	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	Orphanet:166081	"" []	215461	\N	\N	EFO	1	EFO	Von Willebrand disease	Von Willebrand disease type 2
Orphanet:68334	Orphanet:903	\N	"" []	Orphanet:166081	"" []	569654	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Von Willebrand disease type 2
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:166081	"" []	1151501	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Von Willebrand disease type 2
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:166081	"" []	2033894	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Von Willebrand disease type 2
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166081	"" []	3184378	\N	\N	EFO	5	EFO	genetic disorder	Von Willebrand disease type 2
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:166081	"" []	3184379	\N	\N	EFO	5	EFO	hematological system disease	Von Willebrand disease type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166081	"" []	4392050	\N	\N	EFO	6	EFO	disease	Von Willebrand disease type 2
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166081	"" []	4392051	\N	\N	EFO	6	EFO	disease	Von Willebrand disease type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166081	"" []	5410958	\N	\N	EFO	7	EFO	disposition	Von Willebrand disease type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166081	"" []	6148458	\N	\N	EFO	8	EFO	material property	Von Willebrand disease type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166081	"" []	6632212	\N	\N	EFO	9	EFO	experimental factor	Von Willebrand disease type 2
Orphanet:166084	\N	\N	"" []	Orphanet:166084	"" []	73865	\N	\N	EFO	0	EFO	Von Willebrand disease type 2A	Von Willebrand disease type 2A
Orphanet:166081	Orphanet:166084	\N	"" []	Orphanet:166084	"" []	215462	\N	\N	EFO	1	EFO	Von Willebrand disease type 2	Von Willebrand disease type 2A
Orphanet:903	Orphanet:166081	\N	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	Orphanet:166084	"" []	569655	\N	\N	EFO	2	EFO	Von Willebrand disease	Von Willebrand disease type 2A
Orphanet:68334	Orphanet:903	\N	"" []	Orphanet:166084	"" []	1151502	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Von Willebrand disease type 2A
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:166084	"" []	2033895	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Von Willebrand disease type 2A
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:166084	"" []	3184380	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Von Willebrand disease type 2A
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166084	"" []	4392052	\N	\N	EFO	6	EFO	genetic disorder	Von Willebrand disease type 2A
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:166084	"" []	4392053	\N	\N	EFO	6	EFO	hematological system disease	Von Willebrand disease type 2A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166084	"" []	5410959	\N	\N	EFO	7	EFO	disease	Von Willebrand disease type 2A
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166084	"" []	5410960	\N	\N	EFO	7	EFO	disease	Von Willebrand disease type 2A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166084	"" []	6148459	\N	\N	EFO	8	EFO	disposition	Von Willebrand disease type 2A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166084	"" []	6632213	\N	\N	EFO	9	EFO	material property	Von Willebrand disease type 2A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166084	"" []	6925436	\N	\N	EFO	10	EFO	experimental factor	Von Willebrand disease type 2A
Orphanet:166087	\N	\N	"" []	Orphanet:166087	"" []	73866	\N	\N	EFO	0	EFO	Von Willebrand disease type 2B	Von Willebrand disease type 2B
Orphanet:166081	Orphanet:166087	\N	"" []	Orphanet:166087	"" []	215463	\N	\N	EFO	1	EFO	Von Willebrand disease type 2	Von Willebrand disease type 2B
Orphanet:903	Orphanet:166081	\N	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	Orphanet:166087	"" []	569656	\N	\N	EFO	2	EFO	Von Willebrand disease	Von Willebrand disease type 2B
Orphanet:68334	Orphanet:903	\N	"" []	Orphanet:166087	"" []	1151503	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Von Willebrand disease type 2B
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:166087	"" []	2033896	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Von Willebrand disease type 2B
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:166087	"" []	3184381	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Von Willebrand disease type 2B
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166087	"" []	4392054	\N	\N	EFO	6	EFO	genetic disorder	Von Willebrand disease type 2B
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:166087	"" []	4392055	\N	\N	EFO	6	EFO	hematological system disease	Von Willebrand disease type 2B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166087	"" []	5410961	\N	\N	EFO	7	EFO	disease	Von Willebrand disease type 2B
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166087	"" []	5410962	\N	\N	EFO	7	EFO	disease	Von Willebrand disease type 2B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166087	"" []	6148460	\N	\N	EFO	8	EFO	disposition	Von Willebrand disease type 2B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166087	"" []	6632214	\N	\N	EFO	9	EFO	material property	Von Willebrand disease type 2B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166087	"" []	6925437	\N	\N	EFO	10	EFO	experimental factor	Von Willebrand disease type 2B
Orphanet:166090	\N	\N	"" []	Orphanet:166090	"" []	73867	\N	\N	EFO	0	EFO	Von Willebrand disease type 2M	Von Willebrand disease type 2M
Orphanet:166081	Orphanet:166090	\N	"" []	Orphanet:166090	"" []	215464	\N	\N	EFO	1	EFO	Von Willebrand disease type 2	Von Willebrand disease type 2M
Orphanet:903	Orphanet:166081	\N	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	Orphanet:166090	"" []	569657	\N	\N	EFO	2	EFO	Von Willebrand disease	Von Willebrand disease type 2M
Orphanet:68334	Orphanet:903	\N	"" []	Orphanet:166090	"" []	1151504	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Von Willebrand disease type 2M
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:166090	"" []	2033897	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Von Willebrand disease type 2M
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:166090	"" []	3184382	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Von Willebrand disease type 2M
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166090	"" []	4392056	\N	\N	EFO	6	EFO	genetic disorder	Von Willebrand disease type 2M
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:166090	"" []	4392057	\N	\N	EFO	6	EFO	hematological system disease	Von Willebrand disease type 2M
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166090	"" []	5410963	\N	\N	EFO	7	EFO	disease	Von Willebrand disease type 2M
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166090	"" []	5410964	\N	\N	EFO	7	EFO	disease	Von Willebrand disease type 2M
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166090	"" []	6148461	\N	\N	EFO	8	EFO	disposition	Von Willebrand disease type 2M
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166090	"" []	6632215	\N	\N	EFO	9	EFO	material property	Von Willebrand disease type 2M
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166090	"" []	6925438	\N	\N	EFO	10	EFO	experimental factor	Von Willebrand disease type 2M
Orphanet:166093	\N	\N	"" []	Orphanet:166093	"" []	73868	\N	\N	EFO	0	EFO	Von Willebrand disease type 2N	Von Willebrand disease type 2N
Orphanet:166081	Orphanet:166093	\N	"" []	Orphanet:166093	"" []	215465	\N	\N	EFO	1	EFO	Von Willebrand disease type 2	Von Willebrand disease type 2N
Orphanet:903	Orphanet:166081	\N	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	Orphanet:166093	"" []	569658	\N	\N	EFO	2	EFO	Von Willebrand disease	Von Willebrand disease type 2N
Orphanet:68334	Orphanet:903	\N	"" []	Orphanet:166093	"" []	1151505	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Von Willebrand disease type 2N
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:166093	"" []	2033898	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Von Willebrand disease type 2N
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:166093	"" []	3184383	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Von Willebrand disease type 2N
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166093	"" []	4392058	\N	\N	EFO	6	EFO	genetic disorder	Von Willebrand disease type 2N
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:166093	"" []	4392059	\N	\N	EFO	6	EFO	hematological system disease	Von Willebrand disease type 2N
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166093	"" []	5410965	\N	\N	EFO	7	EFO	disease	Von Willebrand disease type 2N
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166093	"" []	5410966	\N	\N	EFO	7	EFO	disease	Von Willebrand disease type 2N
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166093	"" []	6148462	\N	\N	EFO	8	EFO	disposition	Von Willebrand disease type 2N
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166093	"" []	6632216	\N	\N	EFO	9	EFO	material property	Von Willebrand disease type 2N
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166093	"" []	6925439	\N	\N	EFO	10	EFO	experimental factor	Von Willebrand disease type 2N
Orphanet:166096	\N	\N	"" []	Orphanet:166096	"" []	73869	\N	\N	EFO	0	EFO	Von Willebrand disease type 3	Von Willebrand disease type 3
Orphanet:903	Orphanet:166096	\N	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	Orphanet:166096	"" []	215466	\N	\N	EFO	1	EFO	Von Willebrand disease	Von Willebrand disease type 3
Orphanet:68334	Orphanet:903	\N	"" []	Orphanet:166096	"" []	569659	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Von Willebrand disease type 3
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:166096	"" []	1151506	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Von Willebrand disease type 3
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:166096	"" []	2033899	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Von Willebrand disease type 3
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166096	"" []	3184384	\N	\N	EFO	5	EFO	genetic disorder	Von Willebrand disease type 3
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:166096	"" []	3184385	\N	\N	EFO	5	EFO	hematological system disease	Von Willebrand disease type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166096	"" []	4392060	\N	\N	EFO	6	EFO	disease	Von Willebrand disease type 3
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166096	"" []	4392061	\N	\N	EFO	6	EFO	disease	Von Willebrand disease type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166096	"" []	5410967	\N	\N	EFO	7	EFO	disposition	Von Willebrand disease type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166096	"" []	6148463	\N	\N	EFO	8	EFO	material property	Von Willebrand disease type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166096	"" []	6632217	\N	\N	EFO	9	EFO	experimental factor	Von Willebrand disease type 3
Orphanet:1661	\N	\N	"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality." []	Orphanet:1661	"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality." []	73870	\N	\N	EFO	0	EFO	X-linked corneal dermoid	X-linked corneal dermoid
Orphanet:98628	Orphanet:1661	\N	"" []	Orphanet:1661	"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality." []	215467	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	X-linked corneal dermoid
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:1661	"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality." []	569660	\N	\N	EFO	2	EFO	Corneal dystrophy	X-linked corneal dermoid
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:1661	"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality." []	1151507	\N	\N	EFO	3	EFO	Rare genetic eye disease	X-linked corneal dermoid
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1661	"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality." []	2033900	\N	\N	EFO	4	EFO	genetic disorder	X-linked corneal dermoid
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1661	"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality." []	2033901	\N	\N	EFO	4	EFO	eye disease	X-linked corneal dermoid
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1661	"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality." []	3184386	\N	\N	EFO	5	EFO	disease	X-linked corneal dermoid
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1661	"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality." []	3184387	\N	\N	EFO	5	EFO	disease	X-linked corneal dermoid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1661	"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality." []	4392062	\N	\N	EFO	6	EFO	disposition	X-linked corneal dermoid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1661	"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality." []	5410968	\N	\N	EFO	7	EFO	material property	X-linked corneal dermoid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1661	"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality." []	6148464	\N	\N	EFO	8	EFO	experimental factor	X-linked corneal dermoid
Orphanet:166100	\N	\N	"" []	Orphanet:166100	"" []	73871	\N	\N	EFO	0	EFO	Stickler syndrome type 3	Stickler syndrome type 3
Orphanet:138041	Orphanet:166100	\N	"" []	Orphanet:166100	"" []	215468	\N	\N	EFO	1	EFO	Pierre Robin syndrome associated with collagen disease	Stickler syndrome type 3
Orphanet:139039	Orphanet:166100	\N	"" []	Orphanet:166100	"" []	215469	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Stickler syndrome type 3
Orphanet:253	Orphanet:166100	\N	"" []	Orphanet:166100	"" []	215470	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Stickler syndrome type 3
Orphanet:330206	Orphanet:166100	\N	"" []	Orphanet:166100	"" []	215471	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Stickler syndrome type 3
Orphanet:90642	Orphanet:166100	\N	"" []	Orphanet:166100	"" []	215472	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Stickler syndrome type 3
Orphanet:93422	Orphanet:166100	\N	"" []	Orphanet:166100	"" []	215473	\N	\N	EFO	1	EFO	Type 11 collagen-related bone disorder	Stickler syndrome type 3
Orphanet:363294	Orphanet:138041	\N	"" []	Orphanet:166100	"" []	569661	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Stickler syndrome type 3
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:166100	"" []	569662	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Stickler syndrome type 3
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:166100	"" []	569663	\N	\N	EFO	2	EFO	Primary bone dysplasia	Stickler syndrome type 3
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:166100	"" []	569664	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Stickler syndrome type 3
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:166100	"" []	569665	\N	\N	EFO	2	EFO	Rare genetic deafness	Stickler syndrome type 3
Orphanet:364803	Orphanet:93422	\N	"" []	Orphanet:166100	"" []	569666	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Stickler syndrome type 3
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:166100	"" []	1151508	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Stickler syndrome type 3
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:166100	"" []	2033902	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Stickler syndrome type 3
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:166100	"" []	1151510	\N	\N	EFO	3	EFO	Rare genetic bone disease	Stickler syndrome type 3
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:166100	"" []	1151511	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Stickler syndrome type 3
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:166100	"" []	1151512	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Stickler syndrome type 3
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166100	"" []	1151513	\N	\N	EFO	3	EFO	genetic disorder	Stickler syndrome type 3
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:166100	"" []	1151514	\N	\N	EFO	3	EFO	auditory system disease	Stickler syndrome type 3
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:166100	"" []	1151515	\N	\N	EFO	3	EFO	Rare genetic bone disease	Stickler syndrome type 3
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:166100	"" []	3000151	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Stickler syndrome type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166100	"" []	2033904	\N	\N	EFO	4	EFO	genetic disorder	Stickler syndrome type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:166100	"" []	2033905	\N	\N	EFO	4	EFO	bone disease	Stickler syndrome type 3
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:166100	"" []	2033906	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Stickler syndrome type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166100	"" []	5181713	\N	\N	EFO	7	EFO	genetic disorder	Stickler syndrome type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166100	"" []	5817504	\N	\N	EFO	8	EFO	disease	Stickler syndrome type 3
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:166100	"" []	2033909	\N	\N	EFO	4	EFO	sensory system disease	Stickler syndrome type 3
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:166100	"" []	4133369	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Stickler syndrome type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:166100	"" []	3184390	\N	\N	EFO	5	EFO	skeletal system disease	Stickler syndrome type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166100	"" []	6378815	\N	\N	EFO	9	EFO	disposition	Stickler syndrome type 3
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:166100	"" []	3184393	\N	\N	EFO	5	EFO	nervous system disease	Stickler syndrome type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166100	"" []	4392064	\N	\N	EFO	6	EFO	disease	Stickler syndrome type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166100	"" []	6778611	\N	\N	EFO	10	EFO	material property	Stickler syndrome type 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166100	"" []	4392066	\N	\N	EFO	6	EFO	disease	Stickler syndrome type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166100	"" []	7029824	\N	\N	EFO	11	EFO	experimental factor	Stickler syndrome type 3
Orphanet:166105	\N	\N	"" []	Orphanet:166105	"" []	73872	\N	\N	EFO	0	EFO	FASTKD2-related infantile mitochondrial encephalomyopathy	FASTKD2-related infantile mitochondrial encephalomyopathy
Orphanet:254822	Orphanet:166105	\N	"" []	Orphanet:166105	"" []	215474	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder with no known mechanism	FASTKD2-related infantile mitochondrial encephalomyopathy
Orphanet:68385	Orphanet:166105	\N	"" []	Orphanet:166105	"" []	215475	\N	\N	EFO	1	EFO	Neurometabolic disease	FASTKD2-related infantile mitochondrial encephalomyopathy
Orphanet:2443	Orphanet:254822	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:166105	"" []	569667	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	FASTKD2-related infantile mitochondrial encephalomyopathy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:166105	"" []	569668	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	FASTKD2-related infantile mitochondrial encephalomyopathy
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:166105	"" []	1151516	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	FASTKD2-related infantile mitochondrial encephalomyopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166105	"" []	1151517	\N	\N	EFO	3	EFO	genetic disorder	FASTKD2-related infantile mitochondrial encephalomyopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:166105	"" []	2033910	\N	\N	EFO	4	EFO	Mitochondrial disease	FASTKD2-related infantile mitochondrial encephalomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166105	"" []	6148465	\N	\N	EFO	8	EFO	disease	FASTKD2-related infantile mitochondrial encephalomyopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:166105	"" []	3184394	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	FASTKD2-related infantile mitochondrial encephalomyopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:166105	"" []	3184395	\N	\N	EFO	5	EFO	Disorder of energy metabolism	FASTKD2-related infantile mitochondrial encephalomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166105	"" []	6378816	\N	\N	EFO	9	EFO	disposition	FASTKD2-related infantile mitochondrial encephalomyopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:166105	"" []	4392067	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	FASTKD2-related infantile mitochondrial encephalomyopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:166105	"" []	4392068	\N	\N	EFO	6	EFO	Inborn errors of metabolism	FASTKD2-related infantile mitochondrial encephalomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166105	"" []	6778612	\N	\N	EFO	10	EFO	material property	FASTKD2-related infantile mitochondrial encephalomyopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166105	"" []	5410970	\N	\N	EFO	7	EFO	genetic disorder	FASTKD2-related infantile mitochondrial encephalomyopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166105	"" []	5410971	\N	\N	EFO	7	EFO	genetic disorder	FASTKD2-related infantile mitochondrial encephalomyopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:166105	"" []	5410972	\N	\N	EFO	7	EFO	metabolic disease	FASTKD2-related infantile mitochondrial encephalomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166105	"" []	7029825	\N	\N	EFO	11	EFO	experimental factor	FASTKD2-related infantile mitochondrial encephalomyopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166105	"" []	6148466	\N	\N	EFO	8	EFO	disease	FASTKD2-related infantile mitochondrial encephalomyopathy
Orphanet:166108	\N	\N	"" []	Orphanet:166108	"" []	73873	\N	\N	EFO	0	EFO	Intellectual disability, Birk-Barel type	Intellectual disability, Birk-Barel type
Orphanet:183763	Orphanet:166108	\N	"" []	Orphanet:166108	"" []	215476	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability, Birk-Barel type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:166108	"" []	569669	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability, Birk-Barel type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:166108	"" []	1151518	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability, Birk-Barel type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166108	"" []	2033912	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability, Birk-Barel type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166108	"" []	3184397	\N	\N	EFO	5	EFO	disease	Intellectual disability, Birk-Barel type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166108	"" []	4392070	\N	\N	EFO	6	EFO	disposition	Intellectual disability, Birk-Barel type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166108	"" []	5410974	\N	\N	EFO	7	EFO	material property	Intellectual disability, Birk-Barel type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166108	"" []	6148467	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability, Birk-Barel type
Orphanet:166113	\N	\N	"" []	Orphanet:166113	"" []	73874	\N	\N	EFO	0	EFO	Bazex syndrome	Bazex syndrome
Orphanet:183422	Orphanet:166113	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:166113	"" []	215477	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Bazex syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:166113	"" []	569670	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Bazex syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166113	"" []	1151519	\N	\N	EFO	3	EFO	genetic disorder	Bazex syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166113	"" []	2033913	\N	\N	EFO	4	EFO	disease	Bazex syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166113	"" []	3184398	\N	\N	EFO	5	EFO	disposition	Bazex syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166113	"" []	4392071	\N	\N	EFO	6	EFO	material property	Bazex syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166113	"" []	5410975	\N	\N	EFO	7	EFO	experimental factor	Bazex syndrome
Orphanet:166119	\N	\N	"" []	Orphanet:166119	"" []	73875	\N	\N	EFO	0	EFO	Isolated osteopoikilosis	Isolated osteopoikilosis
Orphanet:2781	Orphanet:166119	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:166119	"" []	215478	\N	\N	EFO	1	EFO	Osteopetrosis	Isolated osteopoikilosis
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:166119	"" []	569671	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Isolated osteopoikilosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:166119	"" []	1151520	\N	\N	EFO	3	EFO	Primary bone dysplasia	Isolated osteopoikilosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:166119	"" []	2033914	\N	\N	EFO	4	EFO	Rare genetic bone disease	Isolated osteopoikilosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:166119	"" []	2033915	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Isolated osteopoikilosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166119	"" []	3184399	\N	\N	EFO	5	EFO	genetic disorder	Isolated osteopoikilosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:166119	"" []	3184400	\N	\N	EFO	5	EFO	bone disease	Isolated osteopoikilosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:166119	"" []	3184401	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated osteopoikilosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166119	"" []	5410978	\N	\N	EFO	7	EFO	disease	Isolated osteopoikilosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:166119	"" []	4392073	\N	\N	EFO	6	EFO	skeletal system disease	Isolated osteopoikilosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166119	"" []	4392074	\N	\N	EFO	6	EFO	genetic disorder	Isolated osteopoikilosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166119	"" []	5997096	\N	\N	EFO	8	EFO	disposition	Isolated osteopoikilosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166119	"" []	5410977	\N	\N	EFO	7	EFO	disease	Isolated osteopoikilosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166119	"" []	6550637	\N	\N	EFO	9	EFO	material property	Isolated osteopoikilosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166119	"" []	6889067	\N	\N	EFO	10	EFO	experimental factor	Isolated osteopoikilosis
Orphanet:1662	\N	\N	"Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely." []	Orphanet:1662	"Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely." []	73876	\N	\N	EFO	0	EFO	Lethal restrictive dermopathy	Lethal restrictive dermopathy
Orphanet:139027	Orphanet:1662	\N	"" []	Orphanet:1662	"Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely." []	215479	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Lethal restrictive dermopathy
Orphanet:330197	Orphanet:1662	\N	"" []	Orphanet:1662	"Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely." []	215480	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Lethal restrictive dermopathy
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1662	"Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely." []	569672	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Lethal restrictive dermopathy
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1662	"Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely." []	569673	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lethal restrictive dermopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1662	"Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely." []	2033917	\N	\N	EFO	4	EFO	genetic disorder	Lethal restrictive dermopathy
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1662	"Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely." []	1151522	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lethal restrictive dermopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1662	"Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely." []	3000152	\N	\N	EFO	5	EFO	disease	Lethal restrictive dermopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1662	"Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely." []	4133372	\N	\N	EFO	6	EFO	disposition	Lethal restrictive dermopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1662	"Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely." []	5181715	\N	\N	EFO	7	EFO	material property	Lethal restrictive dermopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1662	"Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely." []	5997097	\N	\N	EFO	8	EFO	experimental factor	Lethal restrictive dermopathy
Orphanet:166260	\N	\N	"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." []	Orphanet:166260	"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." []	73877	\N	\N	EFO	0	EFO	Dentinogenesis imperfecta type 2	Dentinogenesis imperfecta type 2
Orphanet:49042	Orphanet:166260	\N	"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." []	Orphanet:166260	"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." []	215481	\N	\N	EFO	1	EFO	Dentinogenesis imperfecta	Dentinogenesis imperfecta type 2
Orphanet:167759	Orphanet:49042	\N	"" []	Orphanet:166260	"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." []	569674	\N	\N	EFO	2	EFO	Hereditary dentin defect	Dentinogenesis imperfecta type 2
Orphanet:164001	Orphanet:167759	\N	"" []	Orphanet:166260	"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." []	1151523	\N	\N	EFO	3	EFO	Rare odontal or periodontal disorder	Dentinogenesis imperfecta type 2
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:166260	"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." []	2033918	\N	\N	EFO	4	EFO	Rare genetic odontologic disease	Dentinogenesis imperfecta type 2
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166260	"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." []	3184403	\N	\N	EFO	5	EFO	genetic disorder	Dentinogenesis imperfecta type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166260	"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." []	4392076	\N	\N	EFO	6	EFO	disease	Dentinogenesis imperfecta type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166260	"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." []	5410980	\N	\N	EFO	7	EFO	disposition	Dentinogenesis imperfecta type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166260	"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." []	6148469	\N	\N	EFO	8	EFO	material property	Dentinogenesis imperfecta type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166260	"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." []	6632219	\N	\N	EFO	9	EFO	experimental factor	Dentinogenesis imperfecta type 2
Orphanet:166265	\N	\N	"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." []	Orphanet:166265	"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." []	73878	\N	\N	EFO	0	EFO	Dentinogenesis imperfecta type 3	Dentinogenesis imperfecta type 3
Orphanet:49042	Orphanet:166265	\N	"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." []	Orphanet:166265	"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." []	215482	\N	\N	EFO	1	EFO	Dentinogenesis imperfecta	Dentinogenesis imperfecta type 3
Orphanet:167759	Orphanet:49042	\N	"" []	Orphanet:166265	"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." []	569675	\N	\N	EFO	2	EFO	Hereditary dentin defect	Dentinogenesis imperfecta type 3
Orphanet:164001	Orphanet:167759	\N	"" []	Orphanet:166265	"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." []	1151524	\N	\N	EFO	3	EFO	Rare odontal or periodontal disorder	Dentinogenesis imperfecta type 3
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:166265	"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." []	2033919	\N	\N	EFO	4	EFO	Rare genetic odontologic disease	Dentinogenesis imperfecta type 3
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166265	"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." []	3184404	\N	\N	EFO	5	EFO	genetic disorder	Dentinogenesis imperfecta type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166265	"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." []	4392077	\N	\N	EFO	6	EFO	disease	Dentinogenesis imperfecta type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166265	"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." []	5410981	\N	\N	EFO	7	EFO	disposition	Dentinogenesis imperfecta type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166265	"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." []	6148470	\N	\N	EFO	8	EFO	material property	Dentinogenesis imperfecta type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166265	"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." []	6632220	\N	\N	EFO	9	EFO	experimental factor	Dentinogenesis imperfecta type 3
Orphanet:166272	\N	\N	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	73879	\N	\N	EFO	0	EFO	Goldblatt syndrome	Goldblatt syndrome
Orphanet:180766	Orphanet:166272	\N	"" []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	215483	\N	\N	EFO	1	EFO	Malformative syndrome with dentinogenesis imperfecta	Goldblatt syndrome
Orphanet:183580	Orphanet:166272	\N	"" []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	215484	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Goldblatt syndrome
Orphanet:254	Orphanet:166272	\N	"" []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	215485	\N	\N	EFO	1	EFO	Spondylometaphyseal dysplasia	Goldblatt syndrome
Orphanet:77830	Orphanet:180766	\N	"" []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	569676	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Goldblatt syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	569677	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Goldblatt syndrome
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	569678	\N	\N	EFO	2	EFO	Primary bone dysplasia	Goldblatt syndrome
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	1151525	\N	\N	EFO	3	EFO	genetic disorder	Goldblatt syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	3184408	\N	\N	EFO	5	EFO	genetic disorder	Goldblatt syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	1151527	\N	\N	EFO	3	EFO	Rare genetic bone disease	Goldblatt syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	1151528	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Goldblatt syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	4066865	\N	\N	EFO	6	EFO	disease	Goldblatt syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	2033921	\N	\N	EFO	4	EFO	genetic disorder	Goldblatt syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	2033922	\N	\N	EFO	4	EFO	bone disease	Goldblatt syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	2033923	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Goldblatt syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	5059654	\N	\N	EFO	7	EFO	disposition	Goldblatt syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	3184407	\N	\N	EFO	5	EFO	skeletal system disease	Goldblatt syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	5876832	\N	\N	EFO	8	EFO	material property	Goldblatt syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	4392079	\N	\N	EFO	6	EFO	disease	Goldblatt syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166272	"Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." []	6470043	\N	\N	EFO	9	EFO	experimental factor	Goldblatt syndrome
Orphanet:166277	\N	\N	"" []	Orphanet:166277	"" []	73880	\N	\N	EFO	0	EFO	Suarez-Stickler syndrome	Suarez-Stickler syndrome
Orphanet:180766	Orphanet:166277	\N	"" []	Orphanet:166277	"" []	215486	\N	\N	EFO	1	EFO	Malformative syndrome with dentinogenesis imperfecta	Suarez-Stickler syndrome
Orphanet:183580	Orphanet:166277	\N	"" []	Orphanet:166277	"" []	215487	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Suarez-Stickler syndrome
Orphanet:93446	Orphanet:166277	\N	"" []	Orphanet:166277	"" []	215488	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Suarez-Stickler syndrome
Orphanet:77830	Orphanet:180766	\N	"" []	Orphanet:166277	"" []	569679	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Suarez-Stickler syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:166277	"" []	569680	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Suarez-Stickler syndrome
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:166277	"" []	569681	\N	\N	EFO	2	EFO	Primary bone dysplasia	Suarez-Stickler syndrome
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166277	"" []	1151529	\N	\N	EFO	3	EFO	genetic disorder	Suarez-Stickler syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166277	"" []	3184412	\N	\N	EFO	5	EFO	genetic disorder	Suarez-Stickler syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:166277	"" []	1151531	\N	\N	EFO	3	EFO	Rare genetic bone disease	Suarez-Stickler syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:166277	"" []	1151532	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Suarez-Stickler syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166277	"" []	4066866	\N	\N	EFO	6	EFO	disease	Suarez-Stickler syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166277	"" []	2033925	\N	\N	EFO	4	EFO	genetic disorder	Suarez-Stickler syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:166277	"" []	2033926	\N	\N	EFO	4	EFO	bone disease	Suarez-Stickler syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:166277	"" []	2033927	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Suarez-Stickler syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166277	"" []	5059655	\N	\N	EFO	7	EFO	disposition	Suarez-Stickler syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:166277	"" []	3184411	\N	\N	EFO	5	EFO	skeletal system disease	Suarez-Stickler syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166277	"" []	5876833	\N	\N	EFO	8	EFO	material property	Suarez-Stickler syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166277	"" []	4392081	\N	\N	EFO	6	EFO	disease	Suarez-Stickler syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166277	"" []	6470044	\N	\N	EFO	9	EFO	experimental factor	Suarez-Stickler syndrome
Orphanet:166282	\N	\N	"Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." []	Orphanet:166282	"Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." []	73881	\N	\N	EFO	0	EFO	Familial sick sinus syndrome	Familial sick sinus syndrome
Orphanet:101934	Orphanet:166282	\N	"" []	Orphanet:166282	"Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." []	215489	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Familial sick sinus syndrome
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:166282	"Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." []	569682	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Familial sick sinus syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166282	"Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." []	1151533	\N	\N	EFO	3	EFO	genetic disorder	Familial sick sinus syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:166282	"Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." []	1151534	\N	\N	EFO	3	EFO	heart disease	Familial sick sinus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166282	"Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." []	2033928	\N	\N	EFO	4	EFO	disease	Familial sick sinus syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:166282	"Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." []	2033929	\N	\N	EFO	4	EFO	cardiovascular disease	Familial sick sinus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166282	"Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." []	4392083	\N	\N	EFO	6	EFO	disposition	Familial sick sinus syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166282	"Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." []	3184414	\N	\N	EFO	5	EFO	disease	Familial sick sinus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166282	"Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." []	5181718	\N	\N	EFO	7	EFO	material property	Familial sick sinus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166282	"Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." []	5997100	\N	\N	EFO	8	EFO	experimental factor	Familial sick sinus syndrome
Orphanet:166286	\N	\N	"" []	Orphanet:166286	"" []	73882	\N	\N	EFO	0	EFO	Porokeratotic eccrine ostial and dermal duct nevus	Porokeratotic eccrine ostial and dermal duct nevus
Orphanet:183487	Orphanet:166286	\N	"" []	Orphanet:166286	"" []	215490	\N	\N	EFO	1	EFO	Genetic skin tumor	Porokeratotic eccrine ostial and dermal duct nevus
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:166286	"" []	569683	\N	\N	EFO	2	EFO	skin neoplasm	Porokeratotic eccrine ostial and dermal duct nevus
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:166286	"" []	569684	\N	\N	EFO	2	EFO	Rare genetic tumor	Porokeratotic eccrine ostial and dermal duct nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:166286	"" []	1151535	\N	\N	EFO	3	EFO	neoplasm	Porokeratotic eccrine ostial and dermal duct nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:166286	"" []	1151536	\N	\N	EFO	3	EFO	skin disease	Porokeratotic eccrine ostial and dermal duct nevus
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166286	"" []	1151537	\N	\N	EFO	3	EFO	genetic disorder	Porokeratotic eccrine ostial and dermal duct nevus
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:166286	"" []	1151538	\N	\N	EFO	3	EFO	neoplasm	Porokeratotic eccrine ostial and dermal duct nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166286	"" []	2033930	\N	\N	EFO	4	EFO	disease	Porokeratotic eccrine ostial and dermal duct nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166286	"" []	2033931	\N	\N	EFO	4	EFO	disease	Porokeratotic eccrine ostial and dermal duct nevus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166286	"" []	2033932	\N	\N	EFO	4	EFO	disease	Porokeratotic eccrine ostial and dermal duct nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166286	"" []	3184415	\N	\N	EFO	5	EFO	disposition	Porokeratotic eccrine ostial and dermal duct nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166286	"" []	4392084	\N	\N	EFO	6	EFO	material property	Porokeratotic eccrine ostial and dermal duct nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166286	"" []	5410985	\N	\N	EFO	7	EFO	experimental factor	Porokeratotic eccrine ostial and dermal duct nevus
Orphanet:166295	\N	\N	"" []	Orphanet:166295	"" []	73883	\N	\N	EFO	0	EFO	Benign non-familial infantile seizures	Benign non-familial infantile seizures
Orphanet:166311	Orphanet:166295	\N	"" []	Orphanet:166295	"" []	215491	\N	\N	EFO	1	EFO	Benign partial infantile seizures	Benign non-familial infantile seizures
Orphanet:98258	Orphanet:166311	\N	"" []	Orphanet:166295	"" []	569685	\N	\N	EFO	2	EFO	Infantile epilepsy syndrome	Benign non-familial infantile seizures
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:166295	"" []	1151539	\N	\N	EFO	3	EFO	Epilepsy syndrome	Benign non-familial infantile seizures
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:166295	"" []	2033933	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Benign non-familial infantile seizures
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:166295	"" []	3184416	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Benign non-familial infantile seizures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166295	"" []	4392085	\N	\N	EFO	6	EFO	genetic disorder	Benign non-familial infantile seizures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166295	"" []	5410986	\N	\N	EFO	7	EFO	disease	Benign non-familial infantile seizures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166295	"" []	6148471	\N	\N	EFO	8	EFO	disposition	Benign non-familial infantile seizures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166295	"" []	6632221	\N	\N	EFO	9	EFO	material property	Benign non-familial infantile seizures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166295	"" []	6925440	\N	\N	EFO	10	EFO	experimental factor	Benign non-familial infantile seizures
Orphanet:166299	\N	\N	"" []	Orphanet:166299	"" []	73884	\N	\N	EFO	0	EFO	Benign partial epilepsy of infancy with complex partial seizures	Benign partial epilepsy of infancy with complex partial seizures
Orphanet:166295	Orphanet:166299	\N	"" []	Orphanet:166299	"" []	215492	\N	\N	EFO	1	EFO	Benign non-familial infantile seizures	Benign partial epilepsy of infancy with complex partial seizures
Orphanet:166311	Orphanet:166295	\N	"" []	Orphanet:166299	"" []	569686	\N	\N	EFO	2	EFO	Benign partial infantile seizures	Benign partial epilepsy of infancy with complex partial seizures
Orphanet:98258	Orphanet:166311	\N	"" []	Orphanet:166299	"" []	1151540	\N	\N	EFO	3	EFO	Infantile epilepsy syndrome	Benign partial epilepsy of infancy with complex partial seizures
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:166299	"" []	2033934	\N	\N	EFO	4	EFO	Epilepsy syndrome	Benign partial epilepsy of infancy with complex partial seizures
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:166299	"" []	3184417	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Benign partial epilepsy of infancy with complex partial seizures
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:166299	"" []	4392086	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Benign partial epilepsy of infancy with complex partial seizures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166299	"" []	5410987	\N	\N	EFO	7	EFO	genetic disorder	Benign partial epilepsy of infancy with complex partial seizures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166299	"" []	6148472	\N	\N	EFO	8	EFO	disease	Benign partial epilepsy of infancy with complex partial seizures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166299	"" []	6632222	\N	\N	EFO	9	EFO	disposition	Benign partial epilepsy of infancy with complex partial seizures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166299	"" []	6925441	\N	\N	EFO	10	EFO	material property	Benign partial epilepsy of infancy with complex partial seizures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166299	"" []	7099020	\N	\N	EFO	11	EFO	experimental factor	Benign partial epilepsy of infancy with complex partial seizures
Orphanet:166302	\N	\N	"" []	Orphanet:166302	"" []	73885	\N	\N	EFO	0	EFO	Benign partial epilepsy with secondarily generalized seizures in infancy	Benign partial epilepsy with secondarily generalized seizures in infancy
Orphanet:166295	Orphanet:166302	\N	"" []	Orphanet:166302	"" []	215493	\N	\N	EFO	1	EFO	Benign non-familial infantile seizures	Benign partial epilepsy with secondarily generalized seizures in infancy
Orphanet:166311	Orphanet:166295	\N	"" []	Orphanet:166302	"" []	569687	\N	\N	EFO	2	EFO	Benign partial infantile seizures	Benign partial epilepsy with secondarily generalized seizures in infancy
Orphanet:98258	Orphanet:166311	\N	"" []	Orphanet:166302	"" []	1151541	\N	\N	EFO	3	EFO	Infantile epilepsy syndrome	Benign partial epilepsy with secondarily generalized seizures in infancy
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:166302	"" []	2033935	\N	\N	EFO	4	EFO	Epilepsy syndrome	Benign partial epilepsy with secondarily generalized seizures in infancy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:166302	"" []	3184418	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Benign partial epilepsy with secondarily generalized seizures in infancy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:166302	"" []	4392087	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Benign partial epilepsy with secondarily generalized seizures in infancy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166302	"" []	5410988	\N	\N	EFO	7	EFO	genetic disorder	Benign partial epilepsy with secondarily generalized seizures in infancy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166302	"" []	6148473	\N	\N	EFO	8	EFO	disease	Benign partial epilepsy with secondarily generalized seizures in infancy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166302	"" []	6632223	\N	\N	EFO	9	EFO	disposition	Benign partial epilepsy with secondarily generalized seizures in infancy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166302	"" []	6925442	\N	\N	EFO	10	EFO	material property	Benign partial epilepsy with secondarily generalized seizures in infancy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166302	"" []	7099021	\N	\N	EFO	11	EFO	experimental factor	Benign partial epilepsy with secondarily generalized seizures in infancy
Orphanet:166305	\N	\N	"" []	Orphanet:166305	"" []	73886	\N	\N	EFO	0	EFO	Benign infantile seizures associated to mild gastroenteritis	Benign infantile seizures associated to mild gastroenteritis
Orphanet:166311	Orphanet:166305	\N	"" []	Orphanet:166305	"" []	215494	\N	\N	EFO	1	EFO	Benign partial infantile seizures	Benign infantile seizures associated to mild gastroenteritis
Orphanet:98258	Orphanet:166311	\N	"" []	Orphanet:166305	"" []	569688	\N	\N	EFO	2	EFO	Infantile epilepsy syndrome	Benign infantile seizures associated to mild gastroenteritis
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:166305	"" []	1151542	\N	\N	EFO	3	EFO	Epilepsy syndrome	Benign infantile seizures associated to mild gastroenteritis
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:166305	"" []	2033936	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Benign infantile seizures associated to mild gastroenteritis
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:166305	"" []	3184419	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Benign infantile seizures associated to mild gastroenteritis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166305	"" []	4392088	\N	\N	EFO	6	EFO	genetic disorder	Benign infantile seizures associated to mild gastroenteritis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166305	"" []	5410989	\N	\N	EFO	7	EFO	disease	Benign infantile seizures associated to mild gastroenteritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166305	"" []	6148474	\N	\N	EFO	8	EFO	disposition	Benign infantile seizures associated to mild gastroenteritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166305	"" []	6632224	\N	\N	EFO	9	EFO	material property	Benign infantile seizures associated to mild gastroenteritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166305	"" []	6925443	\N	\N	EFO	10	EFO	experimental factor	Benign infantile seizures associated to mild gastroenteritis
Orphanet:166308	\N	\N	"" []	Orphanet:166308	"" []	73887	\N	\N	EFO	0	EFO	Benign infantile focal epilepsy with midline spikes and wave during sleep	Benign infantile focal epilepsy with midline spikes and wave during sleep
Orphanet:166311	Orphanet:166308	\N	"" []	Orphanet:166308	"" []	215495	\N	\N	EFO	1	EFO	Benign partial infantile seizures	Benign infantile focal epilepsy with midline spikes and wave during sleep
Orphanet:98258	Orphanet:166311	\N	"" []	Orphanet:166308	"" []	569689	\N	\N	EFO	2	EFO	Infantile epilepsy syndrome	Benign infantile focal epilepsy with midline spikes and wave during sleep
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:166308	"" []	1151543	\N	\N	EFO	3	EFO	Epilepsy syndrome	Benign infantile focal epilepsy with midline spikes and wave during sleep
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:166308	"" []	2033937	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Benign infantile focal epilepsy with midline spikes and wave during sleep
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:166308	"" []	3184420	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Benign infantile focal epilepsy with midline spikes and wave during sleep
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166308	"" []	4392089	\N	\N	EFO	6	EFO	genetic disorder	Benign infantile focal epilepsy with midline spikes and wave during sleep
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166308	"" []	5410990	\N	\N	EFO	7	EFO	disease	Benign infantile focal epilepsy with midline spikes and wave during sleep
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166308	"" []	6148475	\N	\N	EFO	8	EFO	disposition	Benign infantile focal epilepsy with midline spikes and wave during sleep
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166308	"" []	6632225	\N	\N	EFO	9	EFO	material property	Benign infantile focal epilepsy with midline spikes and wave during sleep
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166308	"" []	6925444	\N	\N	EFO	10	EFO	experimental factor	Benign infantile focal epilepsy with midline spikes and wave during sleep
Orphanet:166311	\N	\N	"" []	Orphanet:166311	"" []	73888	\N	\N	EFO	0	EFO	Benign partial infantile seizures	Benign partial infantile seizures
Orphanet:98258	Orphanet:166311	\N	"" []	Orphanet:166311	"" []	215496	\N	\N	EFO	1	EFO	Infantile epilepsy syndrome	Benign partial infantile seizures
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:166311	"" []	569690	\N	\N	EFO	2	EFO	Epilepsy syndrome	Benign partial infantile seizures
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:166311	"" []	1151544	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Benign partial infantile seizures
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:166311	"" []	2033938	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Benign partial infantile seizures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166311	"" []	3184421	\N	\N	EFO	5	EFO	genetic disorder	Benign partial infantile seizures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166311	"" []	4392090	\N	\N	EFO	6	EFO	disease	Benign partial infantile seizures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166311	"" []	5410991	\N	\N	EFO	7	EFO	disposition	Benign partial infantile seizures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166311	"" []	6148476	\N	\N	EFO	8	EFO	material property	Benign partial infantile seizures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166311	"" []	6632226	\N	\N	EFO	9	EFO	experimental factor	Benign partial infantile seizures
Orphanet:166463	\N	\N	"" []	Orphanet:166463	"" []	73889	\N	\N	EFO	0	EFO	Epilepsy syndrome	Epilepsy syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:166463	"" []	215497	\N	\N	EFO	1	EFO	Rare genetic epilepsy	Epilepsy syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:166463	"" []	569691	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Epilepsy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166463	"" []	1151545	\N	\N	EFO	3	EFO	genetic disorder	Epilepsy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166463	"" []	2033939	\N	\N	EFO	4	EFO	disease	Epilepsy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166463	"" []	3184422	\N	\N	EFO	5	EFO	disposition	Epilepsy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166463	"" []	4392091	\N	\N	EFO	6	EFO	material property	Epilepsy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166463	"" []	5410992	\N	\N	EFO	7	EFO	experimental factor	Epilepsy syndrome
Orphanet:166466	\N	\N	"" []	Orphanet:166466	"" []	73890	\N	\N	EFO	0	EFO	Neurocutaneous syndrome with epilepsy	Neurocutaneous syndrome with epilepsy
Orphanet:183512	Orphanet:166466	\N	"" []	Orphanet:166466	"" []	215498	\N	\N	EFO	1	EFO	Rare genetic epilepsy	Neurocutaneous syndrome with epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:166466	"" []	569692	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neurocutaneous syndrome with epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166466	"" []	1151546	\N	\N	EFO	3	EFO	genetic disorder	Neurocutaneous syndrome with epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166466	"" []	2033940	\N	\N	EFO	4	EFO	disease	Neurocutaneous syndrome with epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166466	"" []	3184423	\N	\N	EFO	5	EFO	disposition	Neurocutaneous syndrome with epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166466	"" []	4392092	\N	\N	EFO	6	EFO	material property	Neurocutaneous syndrome with epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166466	"" []	5410993	\N	\N	EFO	7	EFO	experimental factor	Neurocutaneous syndrome with epilepsy
Orphanet:166472	\N	\N	"" []	Orphanet:166472	"" []	73891	\N	\N	EFO	0	EFO	Monogenic disease with epilepsy	Monogenic disease with epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:166472	"" []	215499	\N	\N	EFO	1	EFO	Rare genetic epilepsy	Monogenic disease with epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:166472	"" []	569693	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Monogenic disease with epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166472	"" []	1151547	\N	\N	EFO	3	EFO	genetic disorder	Monogenic disease with epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166472	"" []	2033941	\N	\N	EFO	4	EFO	disease	Monogenic disease with epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166472	"" []	3184424	\N	\N	EFO	5	EFO	disposition	Monogenic disease with epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166472	"" []	4392093	\N	\N	EFO	6	EFO	material property	Monogenic disease with epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166472	"" []	5410994	\N	\N	EFO	7	EFO	experimental factor	Monogenic disease with epilepsy
Orphanet:166475	\N	\N	"" []	Orphanet:166475	"" []	73892	\N	\N	EFO	0	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:166475	"" []	215500	\N	\N	EFO	1	EFO	Rare genetic epilepsy	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:166475	"" []	569694	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166475	"" []	1151548	\N	\N	EFO	3	EFO	genetic disorder	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166475	"" []	2033942	\N	\N	EFO	4	EFO	disease	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166475	"" []	3184425	\N	\N	EFO	5	EFO	disposition	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166475	"" []	4392094	\N	\N	EFO	6	EFO	material property	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166475	"" []	5410995	\N	\N	EFO	7	EFO	experimental factor	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
Orphanet:166478	\N	\N	"" []	Orphanet:166478	"" []	73893	\N	\N	EFO	0	EFO	Cerebral malformation with epilepsy	Cerebral malformation with epilepsy
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:166478	"" []	215501	\N	\N	EFO	1	EFO	Rare genetic epilepsy	Cerebral malformation with epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:166478	"" []	569695	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Cerebral malformation with epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166478	"" []	1151549	\N	\N	EFO	3	EFO	genetic disorder	Cerebral malformation with epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166478	"" []	2033943	\N	\N	EFO	4	EFO	disease	Cerebral malformation with epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166478	"" []	3184426	\N	\N	EFO	5	EFO	disposition	Cerebral malformation with epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166478	"" []	4392095	\N	\N	EFO	6	EFO	material property	Cerebral malformation with epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166478	"" []	5410996	\N	\N	EFO	7	EFO	experimental factor	Cerebral malformation with epilepsy
Orphanet:166487	\N	\N	"" []	Orphanet:166487	"" []	73894	\N	\N	EFO	0	EFO	Cerebral diseases of vascular origin with epilepsy	Cerebral diseases of vascular origin with epilepsy
Orphanet:183512	Orphanet:166487	\N	"" []	Orphanet:166487	"" []	215502	\N	\N	EFO	1	EFO	Rare genetic epilepsy	Cerebral diseases of vascular origin with epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:166487	"" []	569696	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Cerebral diseases of vascular origin with epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:166487	"" []	1151550	\N	\N	EFO	3	EFO	genetic disorder	Cerebral diseases of vascular origin with epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:166487	"" []	2033944	\N	\N	EFO	4	EFO	disease	Cerebral diseases of vascular origin with epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:166487	"" []	3184427	\N	\N	EFO	5	EFO	disposition	Cerebral diseases of vascular origin with epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:166487	"" []	4392096	\N	\N	EFO	6	EFO	material property	Cerebral diseases of vascular origin with epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:166487	"" []	5410997	\N	\N	EFO	7	EFO	experimental factor	Cerebral diseases of vascular origin with epilepsy
Orphanet:1667	\N	\N	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	73895	\N	\N	EFO	0	EFO	Wolcott-Rallison syndrome	Wolcott-Rallison syndrome
Orphanet:183625	Orphanet:1667	\N	"" []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	215503	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Wolcott-Rallison syndrome
Orphanet:253	Orphanet:1667	\N	"" []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	215504	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Wolcott-Rallison syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	569697	\N	\N	EFO	2	EFO	diabetes mellitus	Wolcott-Rallison syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	569698	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Wolcott-Rallison syndrome
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	569699	\N	\N	EFO	2	EFO	Primary bone dysplasia	Wolcott-Rallison syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	1151551	\N	\N	EFO	3	EFO	metabolic disease	Wolcott-Rallison syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	1151552	\N	\N	EFO	3	EFO	genetic disorder	Wolcott-Rallison syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	1151553	\N	\N	EFO	3	EFO	endocrine system disease	Wolcott-Rallison syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	1151554	\N	\N	EFO	3	EFO	Rare genetic bone disease	Wolcott-Rallison syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	1151555	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Wolcott-Rallison syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	2033945	\N	\N	EFO	4	EFO	disease	Wolcott-Rallison syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	4392099	\N	\N	EFO	6	EFO	disease	Wolcott-Rallison syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	2033947	\N	\N	EFO	4	EFO	disease	Wolcott-Rallison syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	2033948	\N	\N	EFO	4	EFO	genetic disorder	Wolcott-Rallison syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	2033949	\N	\N	EFO	4	EFO	bone disease	Wolcott-Rallison syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	2033950	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Wolcott-Rallison syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	5059656	\N	\N	EFO	7	EFO	disposition	Wolcott-Rallison syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	3184430	\N	\N	EFO	5	EFO	skeletal system disease	Wolcott-Rallison syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	3184431	\N	\N	EFO	5	EFO	genetic disorder	Wolcott-Rallison syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	5876834	\N	\N	EFO	8	EFO	material property	Wolcott-Rallison syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	4392098	\N	\N	EFO	6	EFO	disease	Wolcott-Rallison syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1667	"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." []	6470045	\N	\N	EFO	9	EFO	experimental factor	Wolcott-Rallison syndrome
Orphanet:167	\N	\N	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	73896	\N	\N	EFO	0	EFO	Chdiak-Higashi syndrome	Chdiak-Higashi syndrome
Orphanet:183494	Orphanet:167	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	215505	\N	\N	EFO	1	EFO	Genetic immune deficiency with skin involvement	Chdiak-Higashi syndrome
Orphanet:183500	Orphanet:167	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	215506	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Chdiak-Higashi syndrome
Orphanet:207015	Orphanet:167	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	215507	\N	\N	EFO	1	EFO	Rare hereditary disease with peripheral neuropathy	Chdiak-Higashi syndrome
Orphanet:284811	Orphanet:167	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	215508	\N	\N	EFO	1	EFO	Syndromic oculocutaneous albinism	Chdiak-Higashi syndrome
Orphanet:309340	Orphanet:167	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	215509	\N	\N	EFO	1	EFO	Disorder of lysosomal-related organelles	Chdiak-Higashi syndrome
Orphanet:331184	Orphanet:167	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	215510	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Chdiak-Higashi syndrome
Orphanet:331249	Orphanet:167	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	215511	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with hypopigmentation	Chdiak-Higashi syndrome
Orphanet:98456	Orphanet:167	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	215512	\N	\N	EFO	1	EFO	Dense granule disease	Chdiak-Higashi syndrome
Orphanet:68346	Orphanet:183494	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	569700	\N	\N	EFO	2	EFO	Rare genetic skin disease	Chdiak-Higashi syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	569701	\N	\N	EFO	2	EFO	neurodegenerative disease	Chdiak-Higashi syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	569702	\N	\N	EFO	2	EFO	brain disease	Chdiak-Higashi syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	569703	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Chdiak-Higashi syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	569704	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Chdiak-Higashi syndrome
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	569705	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Chdiak-Higashi syndrome
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	569706	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Chdiak-Higashi syndrome
Orphanet:68367	Orphanet:309340	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	569707	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Chdiak-Higashi syndrome
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	569708	\N	\N	EFO	2	EFO	Constitutional neutropenia	Chdiak-Higashi syndrome
Orphanet:158038	Orphanet:331249	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	569709	\N	\N	EFO	2	EFO	Primary hemophagocytic lymphohistiocytosis	Chdiak-Higashi syndrome
Orphanet:98454	Orphanet:98456	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	569710	\N	\N	EFO	2	EFO	Platelet storage pool disease	Chdiak-Higashi syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	3184433	\N	\N	EFO	5	EFO	genetic disorder	Chdiak-Higashi syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	3184434	\N	\N	EFO	5	EFO	skin disease	Chdiak-Higashi syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	1151558	\N	\N	EFO	3	EFO	nervous system disease	Chdiak-Higashi syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	1151559	\N	\N	EFO	3	EFO	nervous system disease	Chdiak-Higashi syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	2033954	\N	\N	EFO	4	EFO	genetic disorder	Chdiak-Higashi syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	1151561	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Chdiak-Higashi syndrome
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	1151562	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Chdiak-Higashi syndrome
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	1151563	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Chdiak-Higashi syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	1151564	\N	\N	EFO	3	EFO	genetic disorder	Chdiak-Higashi syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	1151565	\N	\N	EFO	3	EFO	metabolic disease	Chdiak-Higashi syndrome
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	1151566	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Chdiak-Higashi syndrome
Orphanet:169361	Orphanet:158038	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	1151567	\N	\N	EFO	3	EFO	Immune dysregulation disease with immunodeficiency	Chdiak-Higashi syndrome
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	1151568	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Chdiak-Higashi syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	5997103	\N	\N	EFO	8	EFO	disease	Chdiak-Higashi syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	4066868	\N	\N	EFO	6	EFO	disease	Chdiak-Higashi syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	2033953	\N	\N	EFO	4	EFO	disease	Chdiak-Higashi syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	2033955	\N	\N	EFO	4	EFO	Rare genetic skin disease	Chdiak-Higashi syndrome
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	2033956	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Chdiak-Higashi syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	2033957	\N	\N	EFO	4	EFO	disease	Chdiak-Higashi syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	2033958	\N	\N	EFO	4	EFO	Primary immunodeficiency	Chdiak-Higashi syndrome
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	2033959	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Chdiak-Higashi syndrome
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	2033960	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Chdiak-Higashi syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	6378817	\N	\N	EFO	9	EFO	disposition	Chdiak-Higashi syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	3184435	\N	\N	EFO	5	EFO	Rare genetic eye disease	Chdiak-Higashi syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	4392105	\N	\N	EFO	6	EFO	Rare genetic immune disease	Chdiak-Higashi syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	3184437	\N	\N	EFO	5	EFO	Primary immunodeficiency	Chdiak-Higashi syndrome
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	3184438	\N	\N	EFO	5	EFO	Rare genetic coagulation disorder	Chdiak-Higashi syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	6778613	\N	\N	EFO	10	EFO	material property	Chdiak-Higashi syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	4392101	\N	\N	EFO	6	EFO	genetic disorder	Chdiak-Higashi syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	4392102	\N	\N	EFO	6	EFO	eye disease	Chdiak-Higashi syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	5181721	\N	\N	EFO	7	EFO	genetic disorder	Chdiak-Higashi syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	5181722	\N	\N	EFO	7	EFO	immune system disease	Chdiak-Higashi syndrome
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	4392106	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Chdiak-Higashi syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	7029826	\N	\N	EFO	11	EFO	experimental factor	Chdiak-Higashi syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	5411001	\N	\N	EFO	7	EFO	disease	Chdiak-Higashi syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	5997104	\N	\N	EFO	8	EFO	disease	Chdiak-Higashi syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	5411003	\N	\N	EFO	7	EFO	genetic disorder	Chdiak-Higashi syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	5411004	\N	\N	EFO	7	EFO	hematological system disease	Chdiak-Higashi syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:167	"Chdiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." []	6148477	\N	\N	EFO	8	EFO	disease	Chdiak-Higashi syndrome
Orphanet:1670	\N	\N	"" []	Orphanet:1670	"" []	73897	\N	\N	EFO	0	EFO	Chronic diarrhea with villous atrophy	Chronic diarrhea with villous atrophy
Orphanet:254767	Orphanet:1670	\N	"" []	Orphanet:1670	"" []	215513	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA	Chronic diarrhea with villous atrophy
Orphanet:363300	Orphanet:1670	\N	"" []	Orphanet:1670	"" []	215514	\N	\N	EFO	1	EFO	Genetic intractable diarrhea of infancy	Chronic diarrhea with villous atrophy
Orphanet:254758	Orphanet:254767	\N	"" []	Orphanet:1670	"" []	569711	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Chronic diarrhea with villous atrophy
Orphanet:165655	Orphanet:363300	\N	"" []	Orphanet:1670	"" []	569712	\N	\N	EFO	2	EFO	Genetic intestinal disease	Chronic diarrhea with villous atrophy
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:1670	"" []	1151569	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Chronic diarrhea with villous atrophy
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:1670	"" []	1151570	\N	\N	EFO	3	EFO	digestive system disease	Chronic diarrhea with villous atrophy
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:1670	"" []	1151571	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Chronic diarrhea with villous atrophy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:1670	"" []	2033961	\N	\N	EFO	4	EFO	Mitochondrial disease	Chronic diarrhea with villous atrophy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1670	"" []	2033962	\N	\N	EFO	4	EFO	disease	Chronic diarrhea with villous atrophy
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1670	"" []	2033963	\N	\N	EFO	4	EFO	genetic disorder	Chronic diarrhea with villous atrophy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:1670	"" []	3184439	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Chronic diarrhea with villous atrophy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:1670	"" []	3184440	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Chronic diarrhea with villous atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1670	"" []	6409870	\N	\N	EFO	9	EFO	disposition	Chronic diarrhea with villous atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1670	"" []	6148478	\N	\N	EFO	8	EFO	disease	Chronic diarrhea with villous atrophy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:1670	"" []	4392107	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Chronic diarrhea with villous atrophy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:1670	"" []	4392108	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Chronic diarrhea with villous atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1670	"" []	6778614	\N	\N	EFO	10	EFO	material property	Chronic diarrhea with villous atrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1670	"" []	5411005	\N	\N	EFO	7	EFO	genetic disorder	Chronic diarrhea with villous atrophy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1670	"" []	5411006	\N	\N	EFO	7	EFO	genetic disorder	Chronic diarrhea with villous atrophy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1670	"" []	5411007	\N	\N	EFO	7	EFO	metabolic disease	Chronic diarrhea with villous atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1670	"" []	7029827	\N	\N	EFO	11	EFO	experimental factor	Chronic diarrhea with villous atrophy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1670	"" []	6148479	\N	\N	EFO	8	EFO	disease	Chronic diarrhea with villous atrophy
Orphanet:1671	\N	\N	"" []	Orphanet:1671	"" []	73898	\N	\N	EFO	0	EFO	Diastematomyelia	Diastematomyelia
Orphanet:268843	Orphanet:1671	\N	"" []	Orphanet:1671	"" []	215515	\N	\N	EFO	1	EFO	Malformation of the neurenteric canal, spinal cord and column	Diastematomyelia
Orphanet:3388	Orphanet:268843	\N	"" []	Orphanet:1671	"" []	569713	\N	\N	EFO	2	EFO	Neural tube defect	Diastematomyelia
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:1671	"" []	1151572	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Diastematomyelia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:1671	"" []	2033964	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Diastematomyelia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1671	"" []	3184443	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Diastematomyelia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1671	"" []	3184444	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Diastematomyelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1671	"" []	4392111	\N	\N	EFO	6	EFO	genetic disorder	Diastematomyelia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1671	"" []	4392112	\N	\N	EFO	6	EFO	genetic disorder	Diastematomyelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1671	"" []	5411009	\N	\N	EFO	7	EFO	disease	Diastematomyelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1671	"" []	6148480	\N	\N	EFO	8	EFO	disposition	Diastematomyelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1671	"" []	6632227	\N	\N	EFO	9	EFO	material property	Diastematomyelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1671	"" []	6925445	\N	\N	EFO	10	EFO	experimental factor	Diastematomyelia
Orphanet:1675	\N	\N	"" []	Orphanet:1675	"" []	73899	\N	\N	EFO	0	EFO	Dihydropyrimidine dehydrogenase deficiency	Dihydropyrimidine dehydrogenase deficiency
Orphanet:79193	Orphanet:1675	\N	"ANPM" []	Orphanet:1675	"" []	215516	\N	\N	EFO	1	EFO	Disorder of pyrimidine metabolism	Dihydropyrimidine dehydrogenase deficiency
Orphanet:79224	Orphanet:79193	\N	"" []	Orphanet:1675	"" []	569714	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Dihydropyrimidine dehydrogenase deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:1675	"" []	1151573	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Dihydropyrimidine dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1675	"" []	2033965	\N	\N	EFO	4	EFO	genetic disorder	Dihydropyrimidine dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1675	"" []	2033966	\N	\N	EFO	4	EFO	metabolic disease	Dihydropyrimidine dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1675	"" []	3184445	\N	\N	EFO	5	EFO	disease	Dihydropyrimidine dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1675	"" []	3184446	\N	\N	EFO	5	EFO	disease	Dihydropyrimidine dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1675	"" []	4392113	\N	\N	EFO	6	EFO	disposition	Dihydropyrimidine dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1675	"" []	5411010	\N	\N	EFO	7	EFO	material property	Dihydropyrimidine dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1675	"" []	6148481	\N	\N	EFO	8	EFO	experimental factor	Dihydropyrimidine dehydrogenase deficiency
Orphanet:1677	\N	\N	"Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." []	Orphanet:1677	"Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." []	73900	\N	\N	EFO	0	EFO	Familial idiopathic dilatation of the right atrium	Familial idiopathic dilatation of the right atrium
Orphanet:98054	Orphanet:1677	\N	"" []	Orphanet:1677	"Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." []	215517	\N	\N	EFO	1	EFO	Rare genetic cardiac disease	Familial idiopathic dilatation of the right atrium
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1677	"Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." []	569715	\N	\N	EFO	2	EFO	genetic disorder	Familial idiopathic dilatation of the right atrium
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:1677	"Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." []	569716	\N	\N	EFO	2	EFO	heart disease	Familial idiopathic dilatation of the right atrium
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1677	"Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." []	1151574	\N	\N	EFO	3	EFO	disease	Familial idiopathic dilatation of the right atrium
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:1677	"Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." []	1151575	\N	\N	EFO	3	EFO	cardiovascular disease	Familial idiopathic dilatation of the right atrium
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1677	"Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." []	3184448	\N	\N	EFO	5	EFO	disposition	Familial idiopathic dilatation of the right atrium
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1677	"Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." []	2033968	\N	\N	EFO	4	EFO	disease	Familial idiopathic dilatation of the right atrium
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1677	"Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." []	4133377	\N	\N	EFO	6	EFO	material property	Familial idiopathic dilatation of the right atrium
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1677	"Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." []	5181724	\N	\N	EFO	7	EFO	experimental factor	Familial idiopathic dilatation of the right atrium
Orphanet:167759	\N	\N	"" []	Orphanet:167759	"" []	73901	\N	\N	EFO	0	EFO	Hereditary dentin defect	Hereditary dentin defect
Orphanet:164001	Orphanet:167759	\N	"" []	Orphanet:167759	"" []	215518	\N	\N	EFO	1	EFO	Rare odontal or periodontal disorder	Hereditary dentin defect
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:167759	"" []	569717	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Hereditary dentin defect
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:167759	"" []	1151576	\N	\N	EFO	3	EFO	genetic disorder	Hereditary dentin defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:167759	"" []	2033969	\N	\N	EFO	4	EFO	disease	Hereditary dentin defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:167759	"" []	3184449	\N	\N	EFO	5	EFO	disposition	Hereditary dentin defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:167759	"" []	4392115	\N	\N	EFO	6	EFO	material property	Hereditary dentin defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:167759	"" []	5411011	\N	\N	EFO	7	EFO	experimental factor	Hereditary dentin defect
Orphanet:167762	\N	\N	"" []	Orphanet:167762	"" []	73902	\N	\N	EFO	0	EFO	Rare disease with dentinogenesis imperfecta	Rare disease with dentinogenesis imperfecta
Orphanet:77830	Orphanet:167762	\N	"" []	Orphanet:167762	"" []	215519	\N	\N	EFO	1	EFO	Rare genetic odontologic disease	Rare disease with dentinogenesis imperfecta
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:167762	"" []	569718	\N	\N	EFO	2	EFO	genetic disorder	Rare disease with dentinogenesis imperfecta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:167762	"" []	1151577	\N	\N	EFO	3	EFO	disease	Rare disease with dentinogenesis imperfecta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:167762	"" []	2033970	\N	\N	EFO	4	EFO	disposition	Rare disease with dentinogenesis imperfecta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:167762	"" []	3184450	\N	\N	EFO	5	EFO	material property	Rare disease with dentinogenesis imperfecta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:167762	"" []	4392116	\N	\N	EFO	6	EFO	experimental factor	Rare disease with dentinogenesis imperfecta
Orphanet:168	\N	\N	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	Orphanet:168	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	73903	\N	\N	EFO	0	EFO	Loose anagen syndrome	Loose anagen syndrome
Orphanet:79364	Orphanet:168	\N	"" []	Orphanet:168	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	215520	\N	\N	EFO	1	EFO	Alopecia	Loose anagen syndrome
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:168	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	569719	\N	\N	EFO	2	EFO	Genetic hair anomaly	Loose anagen syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:168	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	1151578	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Loose anagen syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:168	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	2033971	\N	\N	EFO	4	EFO	Rare genetic skin disease	Loose anagen syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	3184451	\N	\N	EFO	5	EFO	genetic disorder	Loose anagen syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:168	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	3184452	\N	\N	EFO	5	EFO	skin disease	Loose anagen syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	4392117	\N	\N	EFO	6	EFO	disease	Loose anagen syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	4392118	\N	\N	EFO	6	EFO	disease	Loose anagen syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	5411012	\N	\N	EFO	7	EFO	disposition	Loose anagen syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	6148482	\N	\N	EFO	8	EFO	material property	Loose anagen syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168	"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." []	6632228	\N	\N	EFO	9	EFO	experimental factor	Loose anagen syndrome
Orphanet:168443	\N	\N	"" []	Orphanet:168443	"" []	73904	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia - hypotrichosis	Spondyloepimetaphyseal dysplasia - hypotrichosis
Orphanet:253	Orphanet:168443	\N	"" []	Orphanet:168443	"" []	215521	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia - hypotrichosis
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:168443	"" []	569720	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia - hypotrichosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:168443	"" []	1151579	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia - hypotrichosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:168443	"" []	1151580	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia - hypotrichosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168443	"" []	2033972	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia - hypotrichosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:168443	"" []	2033973	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia - hypotrichosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:168443	"" []	2033974	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia - hypotrichosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168443	"" []	4392121	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia - hypotrichosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:168443	"" []	3184454	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia - hypotrichosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168443	"" []	3184455	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia - hypotrichosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168443	"" []	5181725	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia - hypotrichosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168443	"" []	4392120	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia - hypotrichosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168443	"" []	5997106	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia - hypotrichosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168443	"" []	6550638	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia - hypotrichosis
Orphanet:168448	\N	\N	"" []	Orphanet:168448	"" []	73905	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia, Bieganski type	Spondyloepimetaphyseal dysplasia, Bieganski type
Orphanet:253	Orphanet:168448	\N	"" []	Orphanet:168448	"" []	215522	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia, Bieganski type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:168448	"" []	569721	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia, Bieganski type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:168448	"" []	1151581	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia, Bieganski type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:168448	"" []	1151582	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia, Bieganski type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168448	"" []	2033975	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Bieganski type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:168448	"" []	2033976	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia, Bieganski type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:168448	"" []	2033977	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia, Bieganski type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168448	"" []	4392124	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Bieganski type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:168448	"" []	3184457	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia, Bieganski type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168448	"" []	3184458	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Bieganski type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168448	"" []	5181726	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia, Bieganski type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168448	"" []	4392123	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Bieganski type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168448	"" []	5997107	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia, Bieganski type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168448	"" []	6550639	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia, Bieganski type
Orphanet:168451	\N	\N	"" []	Orphanet:168451	"" []	73906	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia - abnormal dentition	Spondyloepimetaphyseal dysplasia - abnormal dentition
Orphanet:253	Orphanet:168451	\N	"" []	Orphanet:168451	"" []	215523	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia - abnormal dentition
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:168451	"" []	569722	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia - abnormal dentition
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:168451	"" []	1151583	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia - abnormal dentition
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:168451	"" []	1151584	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia - abnormal dentition
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168451	"" []	2033978	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia - abnormal dentition
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:168451	"" []	2033979	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia - abnormal dentition
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:168451	"" []	2033980	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia - abnormal dentition
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168451	"" []	4392127	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia - abnormal dentition
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:168451	"" []	3184460	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia - abnormal dentition
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168451	"" []	3184461	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia - abnormal dentition
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168451	"" []	5181727	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia - abnormal dentition
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168451	"" []	4392126	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia - abnormal dentition
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168451	"" []	5997108	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia - abnormal dentition
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168451	"" []	6550640	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia - abnormal dentition
Orphanet:168454	\N	\N	"" []	Orphanet:168454	"" []	73907	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia, Genevive type	Spondyloepimetaphyseal dysplasia, Genevive type
Orphanet:253	Orphanet:168454	\N	"" []	Orphanet:168454	"" []	215524	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia, Genevive type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:168454	"" []	569723	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia, Genevive type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:168454	"" []	1151585	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia, Genevive type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:168454	"" []	1151586	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia, Genevive type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168454	"" []	2033981	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Genevive type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:168454	"" []	2033982	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia, Genevive type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:168454	"" []	2033983	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia, Genevive type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168454	"" []	4392130	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Genevive type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:168454	"" []	3184463	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia, Genevive type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168454	"" []	3184464	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Genevive type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168454	"" []	5181728	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia, Genevive type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168454	"" []	4392129	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Genevive type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168454	"" []	5997109	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia, Genevive type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168454	"" []	6550641	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia, Genevive type
Orphanet:168486	\N	\N	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	73908	\N	\N	EFO	0	EFO	Congenital neuronal ceroid lipofuscinosis	Congenital neuronal ceroid lipofuscinosis
Orphanet:216	Orphanet:168486	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	215525	\N	\N	EFO	1	EFO	Neuronal ceroid lipofuscinosis	Congenital neuronal ceroid lipofuscinosis
Orphanet:98261	Orphanet:168486	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	215526	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Congenital neuronal ceroid lipofuscinosis
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	569724	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Congenital neuronal ceroid lipofuscinosis
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	569725	\N	\N	EFO	2	EFO	Lysosomal disease	Congenital neuronal ceroid lipofuscinosis
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	569726	\N	\N	EFO	2	EFO	Neurometabolic disease	Congenital neuronal ceroid lipofuscinosis
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	569727	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Congenital neuronal ceroid lipofuscinosis
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	569728	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Congenital neuronal ceroid lipofuscinosis
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	569729	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Congenital neuronal ceroid lipofuscinosis
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	569730	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Congenital neuronal ceroid lipofuscinosis
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	1151587	\N	\N	EFO	3	EFO	neurodegenerative disease	Congenital neuronal ceroid lipofuscinosis
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	1151588	\N	\N	EFO	3	EFO	brain disease	Congenital neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	1151589	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Congenital neuronal ceroid lipofuscinosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	1151590	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Congenital neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	1151591	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Congenital neuronal ceroid lipofuscinosis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	1151592	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Congenital neuronal ceroid lipofuscinosis
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	1151593	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Congenital neuronal ceroid lipofuscinosis
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	1151594	\N	\N	EFO	3	EFO	Epilepsy syndrome	Congenital neuronal ceroid lipofuscinosis
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	1151595	\N	\N	EFO	3	EFO	Epilepsy syndrome	Congenital neuronal ceroid lipofuscinosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	2033984	\N	\N	EFO	4	EFO	nervous system disease	Congenital neuronal ceroid lipofuscinosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	2033985	\N	\N	EFO	4	EFO	nervous system disease	Congenital neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	4392135	\N	\N	EFO	6	EFO	genetic disorder	Congenital neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	2033987	\N	\N	EFO	4	EFO	genetic disorder	Congenital neuronal ceroid lipofuscinosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	2033988	\N	\N	EFO	4	EFO	metabolic disease	Congenital neuronal ceroid lipofuscinosis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	2033989	\N	\N	EFO	4	EFO	Retinal dystrophy	Congenital neuronal ceroid lipofuscinosis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	2033990	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital neuronal ceroid lipofuscinosis
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	2033991	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Congenital neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	3184465	\N	\N	EFO	5	EFO	disease	Congenital neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	5876837	\N	\N	EFO	8	EFO	disease	Congenital neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	3184467	\N	\N	EFO	5	EFO	disease	Congenital neuronal ceroid lipofuscinosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	3184468	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Congenital neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	5411018	\N	\N	EFO	7	EFO	genetic disorder	Congenital neuronal ceroid lipofuscinosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	5411019	\N	\N	EFO	7	EFO	eye disease	Congenital neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	3184471	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital neuronal ceroid lipofuscinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	6409871	\N	\N	EFO	9	EFO	disposition	Congenital neuronal ceroid lipofuscinosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	4392132	\N	\N	EFO	6	EFO	Rare genetic eye disease	Congenital neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	5876838	\N	\N	EFO	8	EFO	disease	Congenital neuronal ceroid lipofuscinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	6807720	\N	\N	EFO	10	EFO	material property	Congenital neuronal ceroid lipofuscinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168486	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	7048560	\N	\N	EFO	11	EFO	experimental factor	Congenital neuronal ceroid lipofuscinosis
Orphanet:168491	\N	\N	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	73909	\N	\N	EFO	0	EFO	Late infantile neuronal ceroid lipofuscinosis	Late infantile neuronal ceroid lipofuscinosis
Orphanet:216	Orphanet:168491	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	215527	\N	\N	EFO	1	EFO	Neuronal ceroid lipofuscinosis	Late infantile neuronal ceroid lipofuscinosis
Orphanet:98261	Orphanet:168491	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	215528	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Late infantile neuronal ceroid lipofuscinosis
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	569731	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Late infantile neuronal ceroid lipofuscinosis
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	569732	\N	\N	EFO	2	EFO	Lysosomal disease	Late infantile neuronal ceroid lipofuscinosis
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	569733	\N	\N	EFO	2	EFO	Neurometabolic disease	Late infantile neuronal ceroid lipofuscinosis
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	569734	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Late infantile neuronal ceroid lipofuscinosis
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	569735	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Late infantile neuronal ceroid lipofuscinosis
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	569736	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Late infantile neuronal ceroid lipofuscinosis
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	569737	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Late infantile neuronal ceroid lipofuscinosis
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	1151596	\N	\N	EFO	3	EFO	neurodegenerative disease	Late infantile neuronal ceroid lipofuscinosis
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	1151597	\N	\N	EFO	3	EFO	brain disease	Late infantile neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	1151598	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Late infantile neuronal ceroid lipofuscinosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	1151599	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Late infantile neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	1151600	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Late infantile neuronal ceroid lipofuscinosis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	1151601	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Late infantile neuronal ceroid lipofuscinosis
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	1151602	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Late infantile neuronal ceroid lipofuscinosis
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	1151603	\N	\N	EFO	3	EFO	Epilepsy syndrome	Late infantile neuronal ceroid lipofuscinosis
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	1151604	\N	\N	EFO	3	EFO	Epilepsy syndrome	Late infantile neuronal ceroid lipofuscinosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	2033992	\N	\N	EFO	4	EFO	nervous system disease	Late infantile neuronal ceroid lipofuscinosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	2033993	\N	\N	EFO	4	EFO	nervous system disease	Late infantile neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	4392140	\N	\N	EFO	6	EFO	genetic disorder	Late infantile neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	2033995	\N	\N	EFO	4	EFO	genetic disorder	Late infantile neuronal ceroid lipofuscinosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	2033996	\N	\N	EFO	4	EFO	metabolic disease	Late infantile neuronal ceroid lipofuscinosis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	2033997	\N	\N	EFO	4	EFO	Retinal dystrophy	Late infantile neuronal ceroid lipofuscinosis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	2033998	\N	\N	EFO	4	EFO	Rare genetic eye disease	Late infantile neuronal ceroid lipofuscinosis
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	2033999	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Late infantile neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	3184472	\N	\N	EFO	5	EFO	disease	Late infantile neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	5876840	\N	\N	EFO	8	EFO	disease	Late infantile neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	3184474	\N	\N	EFO	5	EFO	disease	Late infantile neuronal ceroid lipofuscinosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	3184475	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Late infantile neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	5411021	\N	\N	EFO	7	EFO	genetic disorder	Late infantile neuronal ceroid lipofuscinosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	5411022	\N	\N	EFO	7	EFO	eye disease	Late infantile neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	3184478	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Late infantile neuronal ceroid lipofuscinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	6409872	\N	\N	EFO	9	EFO	disposition	Late infantile neuronal ceroid lipofuscinosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	4392137	\N	\N	EFO	6	EFO	Rare genetic eye disease	Late infantile neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	5876841	\N	\N	EFO	8	EFO	disease	Late infantile neuronal ceroid lipofuscinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	6807721	\N	\N	EFO	10	EFO	material property	Late infantile neuronal ceroid lipofuscinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168491	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	7048561	\N	\N	EFO	11	EFO	experimental factor	Late infantile neuronal ceroid lipofuscinosis
Orphanet:168544	\N	\N	"" []	Orphanet:168544	"" []	73910	\N	\N	EFO	0	EFO	Spondylometaphyseal dysplasia, Golden type	Spondylometaphyseal dysplasia, Golden type
Orphanet:254	Orphanet:168544	\N	"" []	Orphanet:168544	"" []	215529	\N	\N	EFO	1	EFO	Spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia, Golden type
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:168544	"" []	569738	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylometaphyseal dysplasia, Golden type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:168544	"" []	1151605	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia, Golden type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:168544	"" []	1151606	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylometaphyseal dysplasia, Golden type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168544	"" []	2034000	\N	\N	EFO	4	EFO	genetic disorder	Spondylometaphyseal dysplasia, Golden type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:168544	"" []	2034001	\N	\N	EFO	4	EFO	bone disease	Spondylometaphyseal dysplasia, Golden type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:168544	"" []	2034002	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylometaphyseal dysplasia, Golden type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168544	"" []	4392143	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, Golden type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:168544	"" []	3184480	\N	\N	EFO	5	EFO	skeletal system disease	Spondylometaphyseal dysplasia, Golden type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168544	"" []	3184481	\N	\N	EFO	5	EFO	genetic disorder	Spondylometaphyseal dysplasia, Golden type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168544	"" []	5181731	\N	\N	EFO	7	EFO	disposition	Spondylometaphyseal dysplasia, Golden type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168544	"" []	4392142	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, Golden type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168544	"" []	5997112	\N	\N	EFO	8	EFO	material property	Spondylometaphyseal dysplasia, Golden type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168544	"" []	6550644	\N	\N	EFO	9	EFO	experimental factor	Spondylometaphyseal dysplasia, Golden type
Orphanet:168549	\N	\N	"" []	Orphanet:168549	"" []	73911	\N	\N	EFO	0	EFO	Axial spondylometaphyseal dysplasia	Axial spondylometaphyseal dysplasia
Orphanet:254	Orphanet:168549	\N	"" []	Orphanet:168549	"" []	215530	\N	\N	EFO	1	EFO	Spondylometaphyseal dysplasia	Axial spondylometaphyseal dysplasia
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:168549	"" []	569739	\N	\N	EFO	2	EFO	Primary bone dysplasia	Axial spondylometaphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:168549	"" []	1151607	\N	\N	EFO	3	EFO	Rare genetic bone disease	Axial spondylometaphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:168549	"" []	1151608	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Axial spondylometaphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168549	"" []	2034003	\N	\N	EFO	4	EFO	genetic disorder	Axial spondylometaphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:168549	"" []	2034004	\N	\N	EFO	4	EFO	bone disease	Axial spondylometaphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:168549	"" []	2034005	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Axial spondylometaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168549	"" []	4392146	\N	\N	EFO	6	EFO	disease	Axial spondylometaphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:168549	"" []	3184483	\N	\N	EFO	5	EFO	skeletal system disease	Axial spondylometaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168549	"" []	3184484	\N	\N	EFO	5	EFO	genetic disorder	Axial spondylometaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168549	"" []	5181732	\N	\N	EFO	7	EFO	disposition	Axial spondylometaphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168549	"" []	4392145	\N	\N	EFO	6	EFO	disease	Axial spondylometaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168549	"" []	5997113	\N	\N	EFO	8	EFO	material property	Axial spondylometaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168549	"" []	6550645	\N	\N	EFO	9	EFO	experimental factor	Axial spondylometaphyseal dysplasia
Orphanet:168552	\N	\N	"" []	Orphanet:168552	"" []	73912	\N	\N	EFO	0	EFO	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
Orphanet:254	Orphanet:168552	\N	"" []	Orphanet:168552	"" []	215531	\N	\N	EFO	1	EFO	Spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:168552	"" []	569740	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:168552	"" []	1151609	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:168552	"" []	1151610	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168552	"" []	2034006	\N	\N	EFO	4	EFO	genetic disorder	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:168552	"" []	2034007	\N	\N	EFO	4	EFO	bone disease	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:168552	"" []	2034008	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168552	"" []	4392149	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:168552	"" []	3184486	\N	\N	EFO	5	EFO	skeletal system disease	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168552	"" []	3184487	\N	\N	EFO	5	EFO	genetic disorder	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168552	"" []	5181733	\N	\N	EFO	7	EFO	disposition	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168552	"" []	4392148	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168552	"" []	5997114	\N	\N	EFO	8	EFO	material property	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168552	"" []	6550646	\N	\N	EFO	9	EFO	experimental factor	Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
Orphanet:168555	\N	\N	"" []	Orphanet:168555	"" []	73913	\N	\N	EFO	0	EFO	Spondylometaphyseal dysplasia, A4 type	Spondylometaphyseal dysplasia, A4 type
Orphanet:254	Orphanet:168555	\N	"" []	Orphanet:168555	"" []	215532	\N	\N	EFO	1	EFO	Spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia, A4 type
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:168555	"" []	569741	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylometaphyseal dysplasia, A4 type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:168555	"" []	1151611	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia, A4 type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:168555	"" []	1151612	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylometaphyseal dysplasia, A4 type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168555	"" []	2034009	\N	\N	EFO	4	EFO	genetic disorder	Spondylometaphyseal dysplasia, A4 type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:168555	"" []	2034010	\N	\N	EFO	4	EFO	bone disease	Spondylometaphyseal dysplasia, A4 type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:168555	"" []	2034011	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylometaphyseal dysplasia, A4 type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168555	"" []	4392152	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, A4 type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:168555	"" []	3184489	\N	\N	EFO	5	EFO	skeletal system disease	Spondylometaphyseal dysplasia, A4 type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168555	"" []	3184490	\N	\N	EFO	5	EFO	genetic disorder	Spondylometaphyseal dysplasia, A4 type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168555	"" []	5181734	\N	\N	EFO	7	EFO	disposition	Spondylometaphyseal dysplasia, A4 type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168555	"" []	4392151	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, A4 type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168555	"" []	5997115	\N	\N	EFO	8	EFO	material property	Spondylometaphyseal dysplasia, A4 type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168555	"" []	6550647	\N	\N	EFO	9	EFO	experimental factor	Spondylometaphyseal dysplasia, A4 type
Orphanet:168558	\N	\N	"" []	Orphanet:168558	"" []	73914	\N	\N	EFO	0	EFO	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:101960	Orphanet:168558	\N	"" []	Orphanet:168558	"" []	215533	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:90786	Orphanet:168558	\N	"" []	Orphanet:168558	"" []	215534	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:168558	"" []	569742	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:325632	Orphanet:90786	\N	"" []	Orphanet:168558	"" []	569743	\N	\N	EFO	2	EFO	46,XY disorder of sex development of gynecological interest	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:90783	Orphanet:90786	\N	"" []	Orphanet:168558	"" []	569744	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to testosterone synthesis defect	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:168558	"" []	1151613	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:168558	"" []	1151614	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:168558	"" []	1151615	\N	\N	EFO	3	EFO	46,XY disorder of sex development due to impaired androgen production	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168558	"" []	6148495	\N	\N	EFO	8	EFO	genetic disorder	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:168558	"" []	6148496	\N	\N	EFO	8	EFO	endocrine system disease	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:168558	"" []	2034014	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:168558	"" []	2034015	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development of endocrine origin	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168558	"" []	6378818	\N	\N	EFO	9	EFO	disease	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168558	"" []	6378819	\N	\N	EFO	9	EFO	disease	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168558	"" []	3184493	\N	\N	EFO	5	EFO	genetic disorder	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:168558	"" []	3184494	\N	\N	EFO	5	EFO	reproductive system disease	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:168558	"" []	3184495	\N	\N	EFO	5	EFO	Genetic 46,XY disorder of sex development	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168558	"" []	6778615	\N	\N	EFO	10	EFO	disposition	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168558	"" []	4392155	\N	\N	EFO	6	EFO	disease	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:168558	"" []	4392156	\N	\N	EFO	6	EFO	Genetic disorder of sex development	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168558	"" []	7029828	\N	\N	EFO	11	EFO	material property	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:168558	"" []	5411028	\N	\N	EFO	7	EFO	Rare genetic urogenital disease	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:168558	"" []	5411029	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:168558	"" []	5411030	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168558	"" []	7181748	\N	\N	EFO	12	EFO	experimental factor	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168558	"" []	6148494	\N	\N	EFO	8	EFO	genetic disorder	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168558	"" []	6148497	\N	\N	EFO	8	EFO	genetic disorder	46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Orphanet:168563	\N	\N	"" []	Orphanet:168563	"" []	73915	\N	\N	EFO	0	EFO	46,XY gonadal dysgenesis - motor and sensory neuropathy	46,XY gonadal dysgenesis - motor and sensory neuropathy
Orphanet:325638	Orphanet:168563	\N	"" []	Orphanet:168563	"" []	215535	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	46,XY gonadal dysgenesis - motor and sensory neuropathy
Orphanet:98087	Orphanet:168563	\N	"" []	Orphanet:168563	"" []	215536	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	46,XY gonadal dysgenesis - motor and sensory neuropathy
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:168563	"" []	569745	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	46,XY gonadal dysgenesis - motor and sensory neuropathy
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:168563	"" []	569746	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	46,XY gonadal dysgenesis - motor and sensory neuropathy
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:168563	"" []	1151616	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	46,XY gonadal dysgenesis - motor and sensory neuropathy
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:168563	"" []	1151617	\N	\N	EFO	3	EFO	Genetic disorder of sex development	46,XY gonadal dysgenesis - motor and sensory neuropathy
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168563	"" []	2034016	\N	\N	EFO	4	EFO	genetic disorder	46,XY gonadal dysgenesis - motor and sensory neuropathy
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:168563	"" []	2034017	\N	\N	EFO	4	EFO	reproductive system disease	46,XY gonadal dysgenesis - motor and sensory neuropathy
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:168563	"" []	2034018	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	46,XY gonadal dysgenesis - motor and sensory neuropathy
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:168563	"" []	2034019	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	46,XY gonadal dysgenesis - motor and sensory neuropathy
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:168563	"" []	2034020	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	46,XY gonadal dysgenesis - motor and sensory neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168563	"" []	4392158	\N	\N	EFO	6	EFO	disease	46,XY gonadal dysgenesis - motor and sensory neuropathy
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168563	"" []	3184497	\N	\N	EFO	5	EFO	disease	46,XY gonadal dysgenesis - motor and sensory neuropathy
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168563	"" []	3184498	\N	\N	EFO	5	EFO	genetic disorder	46,XY gonadal dysgenesis - motor and sensory neuropathy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168563	"" []	3184499	\N	\N	EFO	5	EFO	genetic disorder	46,XY gonadal dysgenesis - motor and sensory neuropathy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:168563	"" []	3184500	\N	\N	EFO	5	EFO	endocrine system disease	46,XY gonadal dysgenesis - motor and sensory neuropathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168563	"" []	3184501	\N	\N	EFO	5	EFO	genetic disorder	46,XY gonadal dysgenesis - motor and sensory neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168563	"" []	5181736	\N	\N	EFO	7	EFO	disposition	46,XY gonadal dysgenesis - motor and sensory neuropathy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168563	"" []	4392159	\N	\N	EFO	6	EFO	disease	46,XY gonadal dysgenesis - motor and sensory neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168563	"" []	5997117	\N	\N	EFO	8	EFO	material property	46,XY gonadal dysgenesis - motor and sensory neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168563	"" []	6550649	\N	\N	EFO	9	EFO	experimental factor	46,XY gonadal dysgenesis - motor and sensory neuropathy
Orphanet:168566	\N	\N	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	73916	\N	\N	EFO	0	EFO	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Orphanet:35696	Orphanet:168566	\N	"" []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	215537	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	569747	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	1151618	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	2034021	\N	\N	EFO	4	EFO	Mitochondrial disease	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	3184502	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	3184503	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	4392160	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	4392161	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	5411032	\N	\N	EFO	7	EFO	genetic disorder	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	5411033	\N	\N	EFO	7	EFO	genetic disorder	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	5411034	\N	\N	EFO	7	EFO	metabolic disease	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	6148499	\N	\N	EFO	8	EFO	disease	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	6148500	\N	\N	EFO	8	EFO	disease	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	6632229	\N	\N	EFO	9	EFO	disposition	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	6925446	\N	\N	EFO	10	EFO	material property	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168566	"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." []	7099022	\N	\N	EFO	11	EFO	experimental factor	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Orphanet:168569	\N	\N	"H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." []	Orphanet:168569	"H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." []	73917	\N	\N	EFO	0	EFO	H syndrome	H syndrome
Orphanet:183466	Orphanet:168569	\N	"" []	Orphanet:168569	"H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." []	215538	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	H syndrome
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:168569	"H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." []	569748	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	H syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:168569	"H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." []	1151619	\N	\N	EFO	3	EFO	Rare genetic skin disease	H syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168569	"H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." []	2034022	\N	\N	EFO	4	EFO	genetic disorder	H syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:168569	"H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." []	2034023	\N	\N	EFO	4	EFO	skin disease	H syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168569	"H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." []	3184504	\N	\N	EFO	5	EFO	disease	H syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168569	"H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." []	3184505	\N	\N	EFO	5	EFO	disease	H syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168569	"H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." []	4392162	\N	\N	EFO	6	EFO	disposition	H syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168569	"H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." []	5411035	\N	\N	EFO	7	EFO	material property	H syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168569	"H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." []	6148501	\N	\N	EFO	8	EFO	experimental factor	H syndrome
Orphanet:168572	\N	\N	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	73918	\N	\N	EFO	0	EFO	Native American myopathy	Native American myopathy
Orphanet:139039	Orphanet:168572	\N	"" []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	215539	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Native American myopathy
Orphanet:97245	Orphanet:168572	\N	"" []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	215540	\N	\N	EFO	1	EFO	Congenital myopathy	Native American myopathy
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	569749	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Native American myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	569750	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Native American myopathy
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	1151620	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Native American myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	1151621	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Native American myopathy
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	2034024	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Native American myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	2034025	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Native American myopathy
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	3184506	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Native American myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	3184507	\N	\N	EFO	5	EFO	muscular disease	Native American myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	3184508	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Native American myopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	4392163	\N	\N	EFO	6	EFO	genetic disorder	Native American myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	4392164	\N	\N	EFO	6	EFO	skeletal system disease	Native American myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	4392165	\N	\N	EFO	6	EFO	genetic disorder	Native American myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	5411036	\N	\N	EFO	7	EFO	disease	Native American myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	5411037	\N	\N	EFO	7	EFO	disease	Native American myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	6148502	\N	\N	EFO	8	EFO	disposition	Native American myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	6632230	\N	\N	EFO	9	EFO	material property	Native American myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168572	"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." []	6925447	\N	\N	EFO	10	EFO	experimental factor	Native American myopathy
Orphanet:168577	\N	\N	"" []	Orphanet:168577	"" []	73919	\N	\N	EFO	0	EFO	Hereditary cryohydrocytosis with reduced stomatin	Hereditary cryohydrocytosis with reduced stomatin
Orphanet:183763	Orphanet:168577	\N	"" []	Orphanet:168577	"" []	215541	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hereditary cryohydrocytosis with reduced stomatin
Orphanet:98365	Orphanet:168577	\N	"" []	Orphanet:168577	"" []	215542	\N	\N	EFO	1	EFO	Hereditary stomatocytosis	Hereditary cryohydrocytosis with reduced stomatin
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:168577	"" []	569751	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hereditary cryohydrocytosis with reduced stomatin
Orphanet:98364	Orphanet:98365	\N	"" []	Orphanet:168577	"" []	569752	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Hereditary cryohydrocytosis with reduced stomatin
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:168577	"" []	1151622	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary cryohydrocytosis with reduced stomatin
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:168577	"" []	1151623	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Hereditary cryohydrocytosis with reduced stomatin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168577	"" []	2034026	\N	\N	EFO	4	EFO	genetic disorder	Hereditary cryohydrocytosis with reduced stomatin
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:168577	"" []	2034027	\N	\N	EFO	4	EFO	Rare constitutional anemia	Hereditary cryohydrocytosis with reduced stomatin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168577	"" []	5411039	\N	\N	EFO	7	EFO	disease	Hereditary cryohydrocytosis with reduced stomatin
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:168577	"" []	3184510	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Hereditary cryohydrocytosis with reduced stomatin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168577	"" []	5876842	\N	\N	EFO	8	EFO	disposition	Hereditary cryohydrocytosis with reduced stomatin
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168577	"" []	4392167	\N	\N	EFO	6	EFO	genetic disorder	Hereditary cryohydrocytosis with reduced stomatin
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:168577	"" []	4392168	\N	\N	EFO	6	EFO	hematological system disease	Hereditary cryohydrocytosis with reduced stomatin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168577	"" []	6470049	\N	\N	EFO	9	EFO	material property	Hereditary cryohydrocytosis with reduced stomatin
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168577	"" []	5411040	\N	\N	EFO	7	EFO	disease	Hereditary cryohydrocytosis with reduced stomatin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168577	"" []	6848323	\N	\N	EFO	10	EFO	experimental factor	Hereditary cryohydrocytosis with reduced stomatin
Orphanet:168583	\N	\N	"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." []	Orphanet:168583	"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." []	73920	\N	\N	EFO	0	EFO	Hereditary North American Indian childhood cirrhosis	Hereditary North American Indian childhood cirrhosis
Orphanet:156604	Orphanet:168583	\N	"" []	Orphanet:168583	"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." []	215543	\N	\N	EFO	1	EFO	Genetic parenchymatous liver disease	Hereditary North American Indian childhood cirrhosis
Orphanet:156601	Orphanet:156604	\N	"" []	Orphanet:168583	"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." []	569753	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Hereditary North American Indian childhood cirrhosis
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:168583	"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." []	1151624	\N	\N	EFO	3	EFO	digestive system disease	Hereditary North American Indian childhood cirrhosis
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168583	"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." []	1151625	\N	\N	EFO	3	EFO	genetic disorder	Hereditary North American Indian childhood cirrhosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168583	"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." []	2034028	\N	\N	EFO	4	EFO	disease	Hereditary North American Indian childhood cirrhosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168583	"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." []	2034029	\N	\N	EFO	4	EFO	disease	Hereditary North American Indian childhood cirrhosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168583	"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." []	3184511	\N	\N	EFO	5	EFO	disposition	Hereditary North American Indian childhood cirrhosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168583	"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." []	4392169	\N	\N	EFO	6	EFO	material property	Hereditary North American Indian childhood cirrhosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168583	"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." []	5411041	\N	\N	EFO	7	EFO	experimental factor	Hereditary North American Indian childhood cirrhosis
Orphanet:168588	\N	\N	"" []	Orphanet:168588	"" []	73921	\N	\N	EFO	0	EFO	Hyperandrogenism due to cortisone reductase deficiency	Hyperandrogenism due to cortisone reductase deficiency
Orphanet:181412	Orphanet:168588	\N	"" []	Orphanet:168588	"" []	215544	\N	\N	EFO	1	EFO	Adrenogenital syndrome	Hyperandrogenism due to cortisone reductase deficiency
Orphanet:202940	Orphanet:168588	\N	"" []	Orphanet:168588	"" []	215545	\N	\N	EFO	1	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Hyperandrogenism due to cortisone reductase deficiency
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:168588	"" []	569754	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Hyperandrogenism due to cortisone reductase deficiency
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:168588	"" []	569755	\N	\N	EFO	2	EFO	Rare genetic gynecological and obstetrical diseases	Hyperandrogenism due to cortisone reductase deficiency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:168588	"" []	1151626	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Hyperandrogenism due to cortisone reductase deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168588	"" []	1151627	\N	\N	EFO	3	EFO	genetic disorder	Hyperandrogenism due to cortisone reductase deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:168588	"" []	1151628	\N	\N	EFO	3	EFO	reproductive system disease	Hyperandrogenism due to cortisone reductase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168588	"" []	2034030	\N	\N	EFO	4	EFO	genetic disorder	Hyperandrogenism due to cortisone reductase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:168588	"" []	2034031	\N	\N	EFO	4	EFO	endocrine system disease	Hyperandrogenism due to cortisone reductase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168588	"" []	3184512	\N	\N	EFO	5	EFO	disease	Hyperandrogenism due to cortisone reductase deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168588	"" []	2034033	\N	\N	EFO	4	EFO	disease	Hyperandrogenism due to cortisone reductase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168588	"" []	3184513	\N	\N	EFO	5	EFO	disease	Hyperandrogenism due to cortisone reductase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168588	"" []	4133378	\N	\N	EFO	6	EFO	disposition	Hyperandrogenism due to cortisone reductase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168588	"" []	5181737	\N	\N	EFO	7	EFO	material property	Hyperandrogenism due to cortisone reductase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168588	"" []	5997118	\N	\N	EFO	8	EFO	experimental factor	Hyperandrogenism due to cortisone reductase deficiency
Orphanet:168593	\N	\N	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	73922	\N	\N	EFO	0	EFO	Sudden infant death - dysgenesis of the testes	Sudden infant death - dysgenesis of the testes
EFO:0005303	Orphanet:168593	\N	"Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	215546	\N	\N	EFO	1	EFO	sudden infant death syndrome	Sudden infant death - dysgenesis of the testes
Orphanet:156610	Orphanet:168593	\N	"" []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	215547	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Sudden infant death - dysgenesis of the testes
Orphanet:98087	Orphanet:168593	\N	"" []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	215548	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	Sudden infant death - dysgenesis of the testes
EFO:0000408	EFO:0005303	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	569756	\N	\N	EFO	2	EFO	disease	Sudden infant death - dysgenesis of the testes
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	569757	\N	\N	EFO	2	EFO	genetic disorder	Sudden infant death - dysgenesis of the testes
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	569758	\N	\N	EFO	2	EFO	respiratory system disease	Sudden infant death - dysgenesis of the testes
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	569759	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Sudden infant death - dysgenesis of the testes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	5028394	\N	\N	EFO	7	EFO	disposition	Sudden infant death - dysgenesis of the testes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	4392171	\N	\N	EFO	6	EFO	disease	Sudden infant death - dysgenesis of the testes
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	1151631	\N	\N	EFO	3	EFO	disease	Sudden infant death - dysgenesis of the testes
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	1151632	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Sudden infant death - dysgenesis of the testes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	5801838	\N	\N	EFO	8	EFO	material property	Sudden infant death - dysgenesis of the testes
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	2034036	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Sudden infant death - dysgenesis of the testes
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	2034037	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Sudden infant death - dysgenesis of the testes
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	2034038	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sudden infant death - dysgenesis of the testes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	6378820	\N	\N	EFO	9	EFO	experimental factor	Sudden infant death - dysgenesis of the testes
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	3184516	\N	\N	EFO	5	EFO	genetic disorder	Sudden infant death - dysgenesis of the testes
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	3184517	\N	\N	EFO	5	EFO	genetic disorder	Sudden infant death - dysgenesis of the testes
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	3184518	\N	\N	EFO	5	EFO	endocrine system disease	Sudden infant death - dysgenesis of the testes
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	3184519	\N	\N	EFO	5	EFO	genetic disorder	Sudden infant death - dysgenesis of the testes
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168593	"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." []	4392172	\N	\N	EFO	6	EFO	disease	Sudden infant death - dysgenesis of the testes
Orphanet:168598	\N	\N	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	73923	\N	\N	EFO	0	EFO	Brain demyelination due to methionine adenosyltransferase deficiency	Brain demyelination due to methionine adenosyltransferase deficiency
Orphanet:68385	Orphanet:168598	\N	"" []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	215549	\N	\N	EFO	1	EFO	Neurometabolic disease	Brain demyelination due to methionine adenosyltransferase deficiency
Orphanet:79173	Orphanet:168598	\N	"" []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	215550	\N	\N	EFO	1	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Brain demyelination due to methionine adenosyltransferase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	569760	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Brain demyelination due to methionine adenosyltransferase deficiency
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	569761	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Brain demyelination due to methionine adenosyltransferase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	1151633	\N	\N	EFO	3	EFO	genetic disorder	Brain demyelination due to methionine adenosyltransferase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	1151634	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Brain demyelination due to methionine adenosyltransferase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	3184521	\N	\N	EFO	5	EFO	disease	Brain demyelination due to methionine adenosyltransferase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	2034040	\N	\N	EFO	4	EFO	genetic disorder	Brain demyelination due to methionine adenosyltransferase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	2034041	\N	\N	EFO	4	EFO	metabolic disease	Brain demyelination due to methionine adenosyltransferase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	4133380	\N	\N	EFO	6	EFO	disposition	Brain demyelination due to methionine adenosyltransferase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	3184522	\N	\N	EFO	5	EFO	disease	Brain demyelination due to methionine adenosyltransferase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	5181738	\N	\N	EFO	7	EFO	material property	Brain demyelination due to methionine adenosyltransferase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168598	"Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." []	5997119	\N	\N	EFO	8	EFO	experimental factor	Brain demyelination due to methionine adenosyltransferase deficiency
Orphanet:168601	\N	\N	"" []	Orphanet:168601	"" []	73924	\N	\N	EFO	0	EFO	Congenital enteropathy due to enteropeptidase deficiency	Congenital enteropathy due to enteropeptidase deficiency
Orphanet:104006	Orphanet:168601	\N	"" []	Orphanet:168601	"" []	215551	\N	\N	EFO	1	EFO	Congenital intestinal disease due to an enzymatic defect	Congenital enteropathy due to enteropeptidase deficiency
Orphanet:165655	Orphanet:104006	\N	"" []	Orphanet:168601	"" []	569762	\N	\N	EFO	2	EFO	Genetic intestinal disease	Congenital enteropathy due to enteropeptidase deficiency
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:168601	"" []	1151635	\N	\N	EFO	3	EFO	digestive system disease	Congenital enteropathy due to enteropeptidase deficiency
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:168601	"" []	1151636	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Congenital enteropathy due to enteropeptidase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168601	"" []	2034042	\N	\N	EFO	4	EFO	disease	Congenital enteropathy due to enteropeptidase deficiency
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168601	"" []	2034043	\N	\N	EFO	4	EFO	genetic disorder	Congenital enteropathy due to enteropeptidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168601	"" []	4392175	\N	\N	EFO	6	EFO	disposition	Congenital enteropathy due to enteropeptidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168601	"" []	3184524	\N	\N	EFO	5	EFO	disease	Congenital enteropathy due to enteropeptidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168601	"" []	5181739	\N	\N	EFO	7	EFO	material property	Congenital enteropathy due to enteropeptidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168601	"" []	5997120	\N	\N	EFO	8	EFO	experimental factor	Congenital enteropathy due to enteropeptidase deficiency
Orphanet:168606	\N	\N	"" []	Orphanet:168606	"" []	73925	\N	\N	EFO	0	EFO	Seborrhea-like dermatitis with psoriasiform elements	Seborrhea-like dermatitis with psoriasiform elements
Orphanet:183426	Orphanet:168606	\N	"" []	Orphanet:168606	"" []	215552	\N	\N	EFO	1	EFO	Genetic epidermal disorder	Seborrhea-like dermatitis with psoriasiform elements
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:168606	"" []	569763	\N	\N	EFO	2	EFO	Rare genetic skin disease	Seborrhea-like dermatitis with psoriasiform elements
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168606	"" []	1151637	\N	\N	EFO	3	EFO	genetic disorder	Seborrhea-like dermatitis with psoriasiform elements
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:168606	"" []	1151638	\N	\N	EFO	3	EFO	skin disease	Seborrhea-like dermatitis with psoriasiform elements
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168606	"" []	2034044	\N	\N	EFO	4	EFO	disease	Seborrhea-like dermatitis with psoriasiform elements
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168606	"" []	2034045	\N	\N	EFO	4	EFO	disease	Seborrhea-like dermatitis with psoriasiform elements
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168606	"" []	3184525	\N	\N	EFO	5	EFO	disposition	Seborrhea-like dermatitis with psoriasiform elements
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168606	"" []	4392176	\N	\N	EFO	6	EFO	material property	Seborrhea-like dermatitis with psoriasiform elements
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168606	"" []	5411045	\N	\N	EFO	7	EFO	experimental factor	Seborrhea-like dermatitis with psoriasiform elements
Orphanet:168609	\N	\N	"" []	Orphanet:168609	"" []	73926	\N	\N	EFO	0	EFO	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Orphanet:216452	Orphanet:168609	\N	"" []	Orphanet:168609	"" []	215553	\N	\N	EFO	1	EFO	Postlingual non-syndromic genetic deafness	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Orphanet:254776	Orphanet:168609	\N	"" []	Orphanet:168609	"" []	215554	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Orphanet:87884	Orphanet:216452	\N	"" []	Orphanet:168609	"" []	569764	\N	\N	EFO	2	EFO	Non-syndromic genetic deafness	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:168609	"" []	569765	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Orphanet:96210	Orphanet:87884	\N	"" []	Orphanet:168609	"" []	1151639	\N	\N	EFO	3	EFO	Rare genetic deafness	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:168609	"" []	1151640	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168609	"" []	2034046	\N	\N	EFO	4	EFO	genetic disorder	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:168609	"" []	2034047	\N	\N	EFO	4	EFO	auditory system disease	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:168609	"" []	2034048	\N	\N	EFO	4	EFO	Mitochondrial disease	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168609	"" []	6148506	\N	\N	EFO	8	EFO	disease	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:168609	"" []	3184527	\N	\N	EFO	5	EFO	sensory system disease	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:168609	"" []	3184528	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:168609	"" []	3184529	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168609	"" []	6409873	\N	\N	EFO	9	EFO	disposition	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:168609	"" []	4392178	\N	\N	EFO	6	EFO	nervous system disease	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:168609	"" []	4392179	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:168609	"" []	4392180	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168609	"" []	6807722	\N	\N	EFO	10	EFO	material property	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168609	"" []	5411047	\N	\N	EFO	7	EFO	disease	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168609	"" []	5411048	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168609	"" []	5411049	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:168609	"" []	5411050	\N	\N	EFO	7	EFO	metabolic disease	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168609	"" []	7048562	\N	\N	EFO	11	EFO	experimental factor	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168609	"" []	6148507	\N	\N	EFO	8	EFO	disease	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Orphanet:168612	\N	\N	"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." []	Orphanet:168612	"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." []	73927	\N	\N	EFO	0	EFO	Congenital deficiency in alpha-fetoprotein	Congenital deficiency in alpha-fetoprotein
EFO:0000319	Orphanet:168612	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:168612	"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." []	215555	\N	\N	EFO	1	EFO	cardiovascular disease	Congenital deficiency in alpha-fetoprotein
EFO:0000508	Orphanet:168612	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168612	"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." []	215556	\N	\N	EFO	1	EFO	genetic disorder	Congenital deficiency in alpha-fetoprotein
EFO:0005803	Orphanet:168612	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:168612	"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." []	215557	\N	\N	EFO	1	EFO	hematological system disease	Congenital deficiency in alpha-fetoprotein
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168612	"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." []	569766	\N	\N	EFO	2	EFO	disease	Congenital deficiency in alpha-fetoprotein
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168612	"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." []	569767	\N	\N	EFO	2	EFO	disease	Congenital deficiency in alpha-fetoprotein
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168612	"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." []	569768	\N	\N	EFO	2	EFO	disease	Congenital deficiency in alpha-fetoprotein
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168612	"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." []	1151641	\N	\N	EFO	3	EFO	disposition	Congenital deficiency in alpha-fetoprotein
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168612	"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." []	2034049	\N	\N	EFO	4	EFO	material property	Congenital deficiency in alpha-fetoprotein
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168612	"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." []	3184530	\N	\N	EFO	5	EFO	experimental factor	Congenital deficiency in alpha-fetoprotein
Orphanet:168615	\N	\N	"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" []	Orphanet:168615	"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" []	73928	\N	\N	EFO	0	EFO	Hereditary persistence of alpha-fetoprotein	Hereditary persistence of alpha-fetoprotein
EFO:0000319	Orphanet:168615	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:168615	"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" []	215558	\N	\N	EFO	1	EFO	cardiovascular disease	Hereditary persistence of alpha-fetoprotein
EFO:0000508	Orphanet:168615	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168615	"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" []	215559	\N	\N	EFO	1	EFO	genetic disorder	Hereditary persistence of alpha-fetoprotein
EFO:0005803	Orphanet:168615	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:168615	"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" []	215560	\N	\N	EFO	1	EFO	hematological system disease	Hereditary persistence of alpha-fetoprotein
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168615	"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" []	569769	\N	\N	EFO	2	EFO	disease	Hereditary persistence of alpha-fetoprotein
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168615	"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" []	569770	\N	\N	EFO	2	EFO	disease	Hereditary persistence of alpha-fetoprotein
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168615	"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" []	569771	\N	\N	EFO	2	EFO	disease	Hereditary persistence of alpha-fetoprotein
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168615	"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" []	1151642	\N	\N	EFO	3	EFO	disposition	Hereditary persistence of alpha-fetoprotein
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168615	"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" []	2034050	\N	\N	EFO	4	EFO	material property	Hereditary persistence of alpha-fetoprotein
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168615	"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" []	3184531	\N	\N	EFO	5	EFO	experimental factor	Hereditary persistence of alpha-fetoprotein
Orphanet:168621	\N	\N	"" []	Orphanet:168621	"" []	73929	\N	\N	EFO	0	EFO	Dysplasia of head of femur, Meyer type	Dysplasia of head of femur, Meyer type
Orphanet:93429	Orphanet:168621	\N	"" []	Orphanet:168621	"" []	215561	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Dysplasia of head of femur, Meyer type
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:168621	"" []	569772	\N	\N	EFO	2	EFO	Primary bone dysplasia	Dysplasia of head of femur, Meyer type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:168621	"" []	1151643	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dysplasia of head of femur, Meyer type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:168621	"" []	1151644	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dysplasia of head of femur, Meyer type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168621	"" []	2034051	\N	\N	EFO	4	EFO	genetic disorder	Dysplasia of head of femur, Meyer type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:168621	"" []	2034052	\N	\N	EFO	4	EFO	bone disease	Dysplasia of head of femur, Meyer type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:168621	"" []	2034053	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dysplasia of head of femur, Meyer type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168621	"" []	4392183	\N	\N	EFO	6	EFO	disease	Dysplasia of head of femur, Meyer type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:168621	"" []	3184533	\N	\N	EFO	5	EFO	skeletal system disease	Dysplasia of head of femur, Meyer type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168621	"" []	3184534	\N	\N	EFO	5	EFO	genetic disorder	Dysplasia of head of femur, Meyer type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168621	"" []	5181740	\N	\N	EFO	7	EFO	disposition	Dysplasia of head of femur, Meyer type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168621	"" []	4392182	\N	\N	EFO	6	EFO	disease	Dysplasia of head of femur, Meyer type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168621	"" []	5997121	\N	\N	EFO	8	EFO	material property	Dysplasia of head of femur, Meyer type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168621	"" []	6550650	\N	\N	EFO	9	EFO	experimental factor	Dysplasia of head of femur, Meyer type
Orphanet:168624	\N	\N	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	73930	\N	\N	EFO	0	EFO	Familial scaphocephaly syndrome, McGillivray type	Familial scaphocephaly syndrome, McGillivray type
Orphanet:139393	Orphanet:168624	\N	"" []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	215562	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Familial scaphocephaly syndrome, McGillivray type
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	569773	\N	\N	EFO	2	EFO	Craniosynostosis	Familial scaphocephaly syndrome, McGillivray type
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	1151645	\N	\N	EFO	3	EFO	Genetic cranial malformation	Familial scaphocephaly syndrome, McGillivray type
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	1151646	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Familial scaphocephaly syndrome, McGillivray type
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	2034054	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial scaphocephaly syndrome, McGillivray type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	2034055	\N	\N	EFO	4	EFO	Rare genetic bone disease	Familial scaphocephaly syndrome, McGillivray type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	2034056	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Familial scaphocephaly syndrome, McGillivray type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	4392186	\N	\N	EFO	6	EFO	genetic disorder	Familial scaphocephaly syndrome, McGillivray type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	3184536	\N	\N	EFO	5	EFO	genetic disorder	Familial scaphocephaly syndrome, McGillivray type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	3184537	\N	\N	EFO	5	EFO	bone disease	Familial scaphocephaly syndrome, McGillivray type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	3184538	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Familial scaphocephaly syndrome, McGillivray type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	5181741	\N	\N	EFO	7	EFO	disease	Familial scaphocephaly syndrome, McGillivray type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	4392185	\N	\N	EFO	6	EFO	skeletal system disease	Familial scaphocephaly syndrome, McGillivray type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	5997122	\N	\N	EFO	8	EFO	disposition	Familial scaphocephaly syndrome, McGillivray type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	5411053	\N	\N	EFO	7	EFO	disease	Familial scaphocephaly syndrome, McGillivray type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	6550651	\N	\N	EFO	9	EFO	material property	Familial scaphocephaly syndrome, McGillivray type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168624	"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." []	6889068	\N	\N	EFO	10	EFO	experimental factor	Familial scaphocephaly syndrome, McGillivray type
Orphanet:168629	\N	\N	"" []	Orphanet:168629	"" []	73931	\N	\N	EFO	0	EFO	Autosomal thrombocytopenia with normal platelets	Autosomal thrombocytopenia with normal platelets
Orphanet:268322	Orphanet:168629	\N	"" []	Orphanet:168629	"" []	215563	\N	\N	EFO	1	EFO	Hereditary thrombocytopenia with normal platelets	Autosomal thrombocytopenia with normal platelets
Orphanet:275729	Orphanet:268322	\N	"" []	Orphanet:168629	"" []	569774	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Autosomal thrombocytopenia with normal platelets
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:168629	"" []	1151647	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Autosomal thrombocytopenia with normal platelets
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:168629	"" []	2034057	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Autosomal thrombocytopenia with normal platelets
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:168629	"" []	3184539	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Autosomal thrombocytopenia with normal platelets
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168629	"" []	4392187	\N	\N	EFO	6	EFO	genetic disorder	Autosomal thrombocytopenia with normal platelets
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:168629	"" []	4392188	\N	\N	EFO	6	EFO	hematological system disease	Autosomal thrombocytopenia with normal platelets
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168629	"" []	5411054	\N	\N	EFO	7	EFO	disease	Autosomal thrombocytopenia with normal platelets
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168629	"" []	5411055	\N	\N	EFO	7	EFO	disease	Autosomal thrombocytopenia with normal platelets
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168629	"" []	6148510	\N	\N	EFO	8	EFO	disposition	Autosomal thrombocytopenia with normal platelets
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168629	"" []	6632232	\N	\N	EFO	9	EFO	material property	Autosomal thrombocytopenia with normal platelets
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168629	"" []	6925448	\N	\N	EFO	10	EFO	experimental factor	Autosomal thrombocytopenia with normal platelets
Orphanet:168632	\N	\N	"" []	Orphanet:168632	"" []	73932	\N	\N	EFO	0	EFO	Generalized basaloid follicular hamartoma syndrome	Generalized basaloid follicular hamartoma syndrome
Orphanet:183487	Orphanet:168632	\N	"" []	Orphanet:168632	"" []	215564	\N	\N	EFO	1	EFO	Genetic skin tumor	Generalized basaloid follicular hamartoma syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:168632	"" []	569775	\N	\N	EFO	2	EFO	skin neoplasm	Generalized basaloid follicular hamartoma syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:168632	"" []	569776	\N	\N	EFO	2	EFO	Rare genetic tumor	Generalized basaloid follicular hamartoma syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:168632	"" []	1151648	\N	\N	EFO	3	EFO	neoplasm	Generalized basaloid follicular hamartoma syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:168632	"" []	1151649	\N	\N	EFO	3	EFO	skin disease	Generalized basaloid follicular hamartoma syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168632	"" []	1151650	\N	\N	EFO	3	EFO	genetic disorder	Generalized basaloid follicular hamartoma syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:168632	"" []	1151651	\N	\N	EFO	3	EFO	neoplasm	Generalized basaloid follicular hamartoma syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168632	"" []	2034058	\N	\N	EFO	4	EFO	disease	Generalized basaloid follicular hamartoma syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168632	"" []	2034059	\N	\N	EFO	4	EFO	disease	Generalized basaloid follicular hamartoma syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168632	"" []	2034060	\N	\N	EFO	4	EFO	disease	Generalized basaloid follicular hamartoma syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168632	"" []	3184540	\N	\N	EFO	5	EFO	disposition	Generalized basaloid follicular hamartoma syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168632	"" []	4392189	\N	\N	EFO	6	EFO	material property	Generalized basaloid follicular hamartoma syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168632	"" []	5411056	\N	\N	EFO	7	EFO	experimental factor	Generalized basaloid follicular hamartoma syndrome
Orphanet:168778	\N	\N	"" []	Orphanet:168778	"" []	73933	\N	\N	EFO	0	EFO	Rare pervasive developmental disorder	Rare pervasive developmental disorder
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:168778	"" []	215565	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Rare pervasive developmental disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168778	"" []	569777	\N	\N	EFO	2	EFO	genetic disorder	Rare pervasive developmental disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168778	"" []	1151652	\N	\N	EFO	3	EFO	disease	Rare pervasive developmental disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168778	"" []	2034061	\N	\N	EFO	4	EFO	disposition	Rare pervasive developmental disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168778	"" []	3184541	\N	\N	EFO	5	EFO	material property	Rare pervasive developmental disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168778	"" []	4392190	\N	\N	EFO	6	EFO	experimental factor	Rare pervasive developmental disorder
Orphanet:168782	\N	\N	"Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviours and dementia." []	Orphanet:168782	"Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviours and dementia." []	73934	\N	\N	EFO	0	EFO	Childhood disintegrative disorder	Childhood disintegrative disorder
Orphanet:168778	Orphanet:168782	\N	"" []	Orphanet:168782	"Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviours and dementia." []	215566	\N	\N	EFO	1	EFO	Rare pervasive developmental disorder	Childhood disintegrative disorder
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:168782	"Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviours and dementia." []	569778	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Childhood disintegrative disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168782	"Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviours and dementia." []	1151653	\N	\N	EFO	3	EFO	genetic disorder	Childhood disintegrative disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168782	"Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviours and dementia." []	2034062	\N	\N	EFO	4	EFO	disease	Childhood disintegrative disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168782	"Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviours and dementia." []	3184542	\N	\N	EFO	5	EFO	disposition	Childhood disintegrative disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168782	"Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviours and dementia." []	4392191	\N	\N	EFO	6	EFO	material property	Childhood disintegrative disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168782	"Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviours and dementia." []	5411057	\N	\N	EFO	7	EFO	experimental factor	Childhood disintegrative disorder
Orphanet:168796	\N	\N	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	73935	\N	\N	EFO	0	EFO	Heart-hand syndrome, Slovenian type	Heart-hand syndrome, Slovenian type
Orphanet:101934	Orphanet:168796	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	215567	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Heart-hand syndrome, Slovenian type
Orphanet:217619	Orphanet:168796	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	215568	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	Heart-hand syndrome, Slovenian type
Orphanet:228184	Orphanet:168796	\N	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	215569	\N	\N	EFO	1	EFO	Heart-hand syndrome	Heart-hand syndrome, Slovenian type
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	569779	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Heart-hand syndrome, Slovenian type
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	569780	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Heart-hand syndrome, Slovenian type
Orphanet:404571	Orphanet:228184	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	569781	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Heart-hand syndrome, Slovenian type
Orphanet:404577	Orphanet:228184	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	569782	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Heart-hand syndrome, Slovenian type
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	2034066	\N	\N	EFO	4	EFO	genetic disorder	Heart-hand syndrome, Slovenian type
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	2034067	\N	\N	EFO	4	EFO	heart disease	Heart-hand syndrome, Slovenian type
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	1151656	\N	\N	EFO	3	EFO	cardiomyopathy	Heart-hand syndrome, Slovenian type
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	1151657	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Heart-hand syndrome, Slovenian type
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	1151658	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Heart-hand syndrome, Slovenian type
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	1151659	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Heart-hand syndrome, Slovenian type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	5181743	\N	\N	EFO	7	EFO	disease	Heart-hand syndrome, Slovenian type
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	3000156	\N	\N	EFO	5	EFO	cardiovascular disease	Heart-hand syndrome, Slovenian type
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	2034065	\N	\N	EFO	4	EFO	heart disease	Heart-hand syndrome, Slovenian type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	2034068	\N	\N	EFO	4	EFO	Rare genetic bone disease	Heart-hand syndrome, Slovenian type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	2034069	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Heart-hand syndrome, Slovenian type
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	2034070	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Heart-hand syndrome, Slovenian type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	5817507	\N	\N	EFO	8	EFO	disposition	Heart-hand syndrome, Slovenian type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	4133382	\N	\N	EFO	6	EFO	disease	Heart-hand syndrome, Slovenian type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	3184545	\N	\N	EFO	5	EFO	genetic disorder	Heart-hand syndrome, Slovenian type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	3184546	\N	\N	EFO	5	EFO	bone disease	Heart-hand syndrome, Slovenian type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	3184547	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Heart-hand syndrome, Slovenian type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	4392195	\N	\N	EFO	6	EFO	genetic disorder	Heart-hand syndrome, Slovenian type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	6409874	\N	\N	EFO	9	EFO	material property	Heart-hand syndrome, Slovenian type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	4392194	\N	\N	EFO	6	EFO	skeletal system disease	Heart-hand syndrome, Slovenian type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	6807723	\N	\N	EFO	10	EFO	experimental factor	Heart-hand syndrome, Slovenian type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168796	"Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." []	5411059	\N	\N	EFO	7	EFO	disease	Heart-hand syndrome, Slovenian type
Orphanet:168984	\N	\N	"CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." []	Orphanet:168984	"CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." []	73936	\N	\N	EFO	0	EFO	CLAPO syndrome	CLAPO syndrome
Orphanet:93460	Orphanet:168984	\N	"" []	Orphanet:168984	"CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." []	215570	\N	\N	EFO	1	EFO	Overgrowth syndrome	CLAPO syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:168984	"CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." []	569783	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	CLAPO syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:168984	"CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." []	1151660	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	CLAPO syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:168984	"CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." []	2034071	\N	\N	EFO	4	EFO	genetic disorder	CLAPO syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:168984	"CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." []	3184549	\N	\N	EFO	5	EFO	disease	CLAPO syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:168984	"CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." []	4392196	\N	\N	EFO	6	EFO	disposition	CLAPO syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:168984	"CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." []	5411060	\N	\N	EFO	7	EFO	material property	CLAPO syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:168984	"CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." []	6148511	\N	\N	EFO	8	EFO	experimental factor	CLAPO syndrome
Orphanet:169	\N	\N	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	Orphanet:169	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	73937	\N	\N	EFO	0	EFO	Ringed hair disease	Ringed hair disease
Orphanet:79366	Orphanet:169	\N	"" []	Orphanet:169	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	215571	\N	\N	EFO	1	EFO	Isolated hair shaft abnormality	Ringed hair disease
Orphanet:183450	Orphanet:79366	\N	"" []	Orphanet:169	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	569784	\N	\N	EFO	2	EFO	Genetic hair anomaly	Ringed hair disease
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:169	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	1151661	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Ringed hair disease
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:169	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	2034072	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ringed hair disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	3184550	\N	\N	EFO	5	EFO	genetic disorder	Ringed hair disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:169	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	3184551	\N	\N	EFO	5	EFO	skin disease	Ringed hair disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	4392197	\N	\N	EFO	6	EFO	disease	Ringed hair disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	4392198	\N	\N	EFO	6	EFO	disease	Ringed hair disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	5411061	\N	\N	EFO	7	EFO	disposition	Ringed hair disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	6148512	\N	\N	EFO	8	EFO	material property	Ringed hair disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169	"Pili annulati is an isolated, benign hair shaft abnormality, that usually presents after the age of 2, affecting usually the hair of the scalp or very rarely beard, axillary, or pubic hair and is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." []	6632233	\N	\N	EFO	9	EFO	experimental factor	Ringed hair disease
Orphanet:169079	\N	\N	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	73938	\N	\N	EFO	0	EFO	Cernunnos-XLF deficiency	Cernunnos-XLF deficiency
Orphanet:101972	Orphanet:169079	\N	"" []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	215572	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Cernunnos-XLF deficiency
Orphanet:183422	Orphanet:169079	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	215573	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Cernunnos-XLF deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	569785	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Cernunnos-XLF deficiency
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	569786	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Cernunnos-XLF deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	1151662	\N	\N	EFO	3	EFO	Primary immunodeficiency	Cernunnos-XLF deficiency
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	1151663	\N	\N	EFO	3	EFO	genetic disorder	Cernunnos-XLF deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	2034073	\N	\N	EFO	4	EFO	Rare genetic immune disease	Cernunnos-XLF deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	4392199	\N	\N	EFO	6	EFO	disease	Cernunnos-XLF deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	3184552	\N	\N	EFO	5	EFO	genetic disorder	Cernunnos-XLF deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	3184553	\N	\N	EFO	5	EFO	immune system disease	Cernunnos-XLF deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	5059661	\N	\N	EFO	7	EFO	disposition	Cernunnos-XLF deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	4392200	\N	\N	EFO	6	EFO	disease	Cernunnos-XLF deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	5876844	\N	\N	EFO	8	EFO	material property	Cernunnos-XLF deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169079	"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." []	6470052	\N	\N	EFO	9	EFO	experimental factor	Cernunnos-XLF deficiency
Orphanet:169082	\N	\N	"" []	Orphanet:169082	"" []	73939	\N	\N	EFO	0	EFO	Combined immunodeficiency due to CD3gamma deficiency	Combined immunodeficiency due to CD3gamma deficiency
Orphanet:101972	Orphanet:169082	\N	"" []	Orphanet:169082	"" []	215574	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Combined immunodeficiency due to CD3gamma deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:169082	"" []	569787	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined immunodeficiency due to CD3gamma deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169082	"" []	1151664	\N	\N	EFO	3	EFO	Primary immunodeficiency	Combined immunodeficiency due to CD3gamma deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169082	"" []	2034075	\N	\N	EFO	4	EFO	Rare genetic immune disease	Combined immunodeficiency due to CD3gamma deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169082	"" []	3184555	\N	\N	EFO	5	EFO	genetic disorder	Combined immunodeficiency due to CD3gamma deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169082	"" []	3184556	\N	\N	EFO	5	EFO	immune system disease	Combined immunodeficiency due to CD3gamma deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169082	"" []	4392202	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency due to CD3gamma deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169082	"" []	4392203	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency due to CD3gamma deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169082	"" []	5411063	\N	\N	EFO	7	EFO	disposition	Combined immunodeficiency due to CD3gamma deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169082	"" []	6148513	\N	\N	EFO	8	EFO	material property	Combined immunodeficiency due to CD3gamma deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169082	"" []	6632234	\N	\N	EFO	9	EFO	experimental factor	Combined immunodeficiency due to CD3gamma deficiency
Orphanet:169085	\N	\N	"" []	Orphanet:169085	"" []	73940	\N	\N	EFO	0	EFO	Susceptibility to respiratory infections associated with CD8alpha chain mutation	Susceptibility to respiratory infections associated with CD8alpha chain mutation
Orphanet:101972	Orphanet:169085	\N	"" []	Orphanet:169085	"" []	215575	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Susceptibility to respiratory infections associated with CD8alpha chain mutation
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:169085	"" []	569788	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Susceptibility to respiratory infections associated with CD8alpha chain mutation
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169085	"" []	1151665	\N	\N	EFO	3	EFO	Primary immunodeficiency	Susceptibility to respiratory infections associated with CD8alpha chain mutation
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169085	"" []	2034076	\N	\N	EFO	4	EFO	Rare genetic immune disease	Susceptibility to respiratory infections associated with CD8alpha chain mutation
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169085	"" []	3184557	\N	\N	EFO	5	EFO	genetic disorder	Susceptibility to respiratory infections associated with CD8alpha chain mutation
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169085	"" []	3184558	\N	\N	EFO	5	EFO	immune system disease	Susceptibility to respiratory infections associated with CD8alpha chain mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169085	"" []	4392204	\N	\N	EFO	6	EFO	disease	Susceptibility to respiratory infections associated with CD8alpha chain mutation
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169085	"" []	4392205	\N	\N	EFO	6	EFO	disease	Susceptibility to respiratory infections associated with CD8alpha chain mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169085	"" []	5411064	\N	\N	EFO	7	EFO	disposition	Susceptibility to respiratory infections associated with CD8alpha chain mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169085	"" []	6148514	\N	\N	EFO	8	EFO	material property	Susceptibility to respiratory infections associated with CD8alpha chain mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169085	"" []	6632235	\N	\N	EFO	9	EFO	experimental factor	Susceptibility to respiratory infections associated with CD8alpha chain mutation
Orphanet:169090	\N	\N	" deficiency (see these terms)." []	Orphanet:169090	" deficiency (see these terms)." []	73941	\N	\N	EFO	0	EFO	Combined immunodeficiency due to CRAC channel dysfunction	Combined immunodeficiency due to CRAC channel dysfunction
Orphanet:101972	Orphanet:169090	\N	"" []	Orphanet:169090	" deficiency (see these terms)." []	215576	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Combined immunodeficiency due to CRAC channel dysfunction
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:169090	" deficiency (see these terms)." []	569789	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined immunodeficiency due to CRAC channel dysfunction
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169090	" deficiency (see these terms)." []	1151666	\N	\N	EFO	3	EFO	Primary immunodeficiency	Combined immunodeficiency due to CRAC channel dysfunction
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169090	" deficiency (see these terms)." []	2034077	\N	\N	EFO	4	EFO	Rare genetic immune disease	Combined immunodeficiency due to CRAC channel dysfunction
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169090	" deficiency (see these terms)." []	3184559	\N	\N	EFO	5	EFO	genetic disorder	Combined immunodeficiency due to CRAC channel dysfunction
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169090	" deficiency (see these terms)." []	3184560	\N	\N	EFO	5	EFO	immune system disease	Combined immunodeficiency due to CRAC channel dysfunction
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169090	" deficiency (see these terms)." []	4392206	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency due to CRAC channel dysfunction
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169090	" deficiency (see these terms)." []	4392207	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency due to CRAC channel dysfunction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169090	" deficiency (see these terms)." []	5411065	\N	\N	EFO	7	EFO	disposition	Combined immunodeficiency due to CRAC channel dysfunction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169090	" deficiency (see these terms)." []	6148515	\N	\N	EFO	8	EFO	material property	Combined immunodeficiency due to CRAC channel dysfunction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169090	" deficiency (see these terms)." []	6632236	\N	\N	EFO	9	EFO	experimental factor	Combined immunodeficiency due to CRAC channel dysfunction
Orphanet:169095	\N	\N	"" []	Orphanet:169095	"" []	73942	\N	\N	EFO	0	EFO	Alymphoid cystic thymic dysgenesis	Alymphoid cystic thymic dysgenesis
Orphanet:101972	Orphanet:169095	\N	"" []	Orphanet:169095	"" []	215577	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Alymphoid cystic thymic dysgenesis
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:169095	"" []	569790	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Alymphoid cystic thymic dysgenesis
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169095	"" []	1151667	\N	\N	EFO	3	EFO	Primary immunodeficiency	Alymphoid cystic thymic dysgenesis
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169095	"" []	2034078	\N	\N	EFO	4	EFO	Rare genetic immune disease	Alymphoid cystic thymic dysgenesis
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169095	"" []	3184561	\N	\N	EFO	5	EFO	genetic disorder	Alymphoid cystic thymic dysgenesis
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169095	"" []	3184562	\N	\N	EFO	5	EFO	immune system disease	Alymphoid cystic thymic dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169095	"" []	4392208	\N	\N	EFO	6	EFO	disease	Alymphoid cystic thymic dysgenesis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169095	"" []	4392209	\N	\N	EFO	6	EFO	disease	Alymphoid cystic thymic dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169095	"" []	5411066	\N	\N	EFO	7	EFO	disposition	Alymphoid cystic thymic dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169095	"" []	6148516	\N	\N	EFO	8	EFO	material property	Alymphoid cystic thymic dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169095	"" []	6632237	\N	\N	EFO	9	EFO	experimental factor	Alymphoid cystic thymic dysgenesis
Orphanet:169100	\N	\N	"" []	Orphanet:169100	"" []	73943	\N	\N	EFO	0	EFO	Immunodeficiency due to CD25 deficiency	Immunodeficiency due to CD25 deficiency
Orphanet:169355	Orphanet:169100	\N	"" []	Orphanet:169100	"" []	215578	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with autoimmunity	Immunodeficiency due to CD25 deficiency
Orphanet:169361	Orphanet:169355	\N	"" []	Orphanet:169100	"" []	569791	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Immunodeficiency due to CD25 deficiency
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:169100	"" []	1151668	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immunodeficiency due to CD25 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169100	"" []	2034079	\N	\N	EFO	4	EFO	Primary immunodeficiency	Immunodeficiency due to CD25 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169100	"" []	3184563	\N	\N	EFO	5	EFO	Rare genetic immune disease	Immunodeficiency due to CD25 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169100	"" []	4392210	\N	\N	EFO	6	EFO	genetic disorder	Immunodeficiency due to CD25 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169100	"" []	4392211	\N	\N	EFO	6	EFO	immune system disease	Immunodeficiency due to CD25 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169100	"" []	5411067	\N	\N	EFO	7	EFO	disease	Immunodeficiency due to CD25 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169100	"" []	5411068	\N	\N	EFO	7	EFO	disease	Immunodeficiency due to CD25 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169100	"" []	6148517	\N	\N	EFO	8	EFO	disposition	Immunodeficiency due to CD25 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169100	"" []	6632238	\N	\N	EFO	9	EFO	material property	Immunodeficiency due to CD25 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169100	"" []	6925449	\N	\N	EFO	10	EFO	experimental factor	Immunodeficiency due to CD25 deficiency
Orphanet:169110	\N	\N	"" []	Orphanet:169110	"" []	73944	\N	\N	EFO	0	EFO	Immunoglobulin heavy chain deficiency	Immunoglobulin heavy chain deficiency
Orphanet:331232	Orphanet:169110	\N	"" []	Orphanet:169110	"" []	215579	\N	\N	EFO	1	EFO	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells	Immunoglobulin heavy chain deficiency
Orphanet:101977	Orphanet:331232	\N	"" []	Orphanet:169110	"" []	569792	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Immunoglobulin heavy chain deficiency
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:169110	"" []	1151669	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immunoglobulin heavy chain deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169110	"" []	2034080	\N	\N	EFO	4	EFO	Primary immunodeficiency	Immunoglobulin heavy chain deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169110	"" []	3184564	\N	\N	EFO	5	EFO	Rare genetic immune disease	Immunoglobulin heavy chain deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169110	"" []	4392212	\N	\N	EFO	6	EFO	genetic disorder	Immunoglobulin heavy chain deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169110	"" []	4392213	\N	\N	EFO	6	EFO	immune system disease	Immunoglobulin heavy chain deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169110	"" []	5411069	\N	\N	EFO	7	EFO	disease	Immunoglobulin heavy chain deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169110	"" []	5411070	\N	\N	EFO	7	EFO	disease	Immunoglobulin heavy chain deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169110	"" []	6148518	\N	\N	EFO	8	EFO	disposition	Immunoglobulin heavy chain deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169110	"" []	6632239	\N	\N	EFO	9	EFO	material property	Immunoglobulin heavy chain deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169110	"" []	6925450	\N	\N	EFO	10	EFO	experimental factor	Immunoglobulin heavy chain deficiency
Orphanet:169139	\N	\N	"" []	Orphanet:169139	"" []	73945	\N	\N	EFO	0	EFO	Transient hypogammaglobulinemia of infancy	Transient hypogammaglobulinemia of infancy
Orphanet:101977	Orphanet:169139	\N	"" []	Orphanet:169139	"" []	215580	\N	\N	EFO	1	EFO	Immunodeficiency predominantly affecting antibody production	Transient hypogammaglobulinemia of infancy
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:169139	"" []	569793	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Transient hypogammaglobulinemia of infancy
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169139	"" []	1151670	\N	\N	EFO	3	EFO	Primary immunodeficiency	Transient hypogammaglobulinemia of infancy
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169139	"" []	2034081	\N	\N	EFO	4	EFO	Rare genetic immune disease	Transient hypogammaglobulinemia of infancy
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169139	"" []	3184565	\N	\N	EFO	5	EFO	genetic disorder	Transient hypogammaglobulinemia of infancy
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169139	"" []	3184566	\N	\N	EFO	5	EFO	immune system disease	Transient hypogammaglobulinemia of infancy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169139	"" []	4392214	\N	\N	EFO	6	EFO	disease	Transient hypogammaglobulinemia of infancy
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169139	"" []	4392215	\N	\N	EFO	6	EFO	disease	Transient hypogammaglobulinemia of infancy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169139	"" []	5411071	\N	\N	EFO	7	EFO	disposition	Transient hypogammaglobulinemia of infancy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169139	"" []	6148519	\N	\N	EFO	8	EFO	material property	Transient hypogammaglobulinemia of infancy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169139	"" []	6632240	\N	\N	EFO	9	EFO	experimental factor	Transient hypogammaglobulinemia of infancy
Orphanet:169142	\N	\N	"" []	Orphanet:169142	"" []	73946	\N	\N	EFO	0	EFO	Recurrent infection due to specific granule deficiency	Recurrent infection due to specific granule deficiency
Orphanet:183681	Orphanet:169142	\N	"" []	Orphanet:169142	"" []	215581	\N	\N	EFO	1	EFO	Functional neutrophil defect	Recurrent infection due to specific granule deficiency
Orphanet:101988	Orphanet:183681	\N	"" []	Orphanet:169142	"" []	569794	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Recurrent infection due to specific granule deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:169142	"" []	1151671	\N	\N	EFO	3	EFO	Primary immunodeficiency	Recurrent infection due to specific granule deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169142	"" []	2034082	\N	\N	EFO	4	EFO	Rare genetic immune disease	Recurrent infection due to specific granule deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169142	"" []	3184567	\N	\N	EFO	5	EFO	genetic disorder	Recurrent infection due to specific granule deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169142	"" []	3184568	\N	\N	EFO	5	EFO	immune system disease	Recurrent infection due to specific granule deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169142	"" []	4392216	\N	\N	EFO	6	EFO	disease	Recurrent infection due to specific granule deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169142	"" []	4392217	\N	\N	EFO	6	EFO	disease	Recurrent infection due to specific granule deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169142	"" []	5411072	\N	\N	EFO	7	EFO	disposition	Recurrent infection due to specific granule deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169142	"" []	6148520	\N	\N	EFO	8	EFO	material property	Recurrent infection due to specific granule deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169142	"" []	6632241	\N	\N	EFO	9	EFO	experimental factor	Recurrent infection due to specific granule deficiency
Orphanet:169147	\N	\N	"" []	Orphanet:169147	"" []	73947	\N	\N	EFO	0	EFO	Immunodeficiency due to an early component of complement deficiency	Immunodeficiency due to an early component of complement deficiency
Orphanet:101992	Orphanet:169147	\N	"" []	Orphanet:169147	"" []	215582	\N	\N	EFO	1	EFO	Immunodeficiency due to a complement cascade protein anomaly	Immunodeficiency due to an early component of complement deficiency
Orphanet:101988	Orphanet:101992	\N	"" []	Orphanet:169147	"" []	569795	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Immunodeficiency due to an early component of complement deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:169147	"" []	1151672	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency due to an early component of complement deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169147	"" []	2034083	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency due to an early component of complement deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169147	"" []	3184569	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency due to an early component of complement deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169147	"" []	3184570	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency due to an early component of complement deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169147	"" []	4392218	\N	\N	EFO	6	EFO	disease	Immunodeficiency due to an early component of complement deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169147	"" []	4392219	\N	\N	EFO	6	EFO	disease	Immunodeficiency due to an early component of complement deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169147	"" []	5411073	\N	\N	EFO	7	EFO	disposition	Immunodeficiency due to an early component of complement deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169147	"" []	6148521	\N	\N	EFO	8	EFO	material property	Immunodeficiency due to an early component of complement deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169147	"" []	6632242	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency due to an early component of complement deficiency
Orphanet:169150	\N	\N	"" []	Orphanet:169150	"" []	73948	\N	\N	EFO	0	EFO	Immunodeficiency due to a late component of complements deficiency	Immunodeficiency due to a late component of complements deficiency
Orphanet:101992	Orphanet:169150	\N	"" []	Orphanet:169150	"" []	215583	\N	\N	EFO	1	EFO	Immunodeficiency due to a complement cascade protein anomaly	Immunodeficiency due to a late component of complements deficiency
Orphanet:101988	Orphanet:101992	\N	"" []	Orphanet:169150	"" []	569796	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Immunodeficiency due to a late component of complements deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:169150	"" []	1151673	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency due to a late component of complements deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169150	"" []	2034084	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency due to a late component of complements deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169150	"" []	3184571	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency due to a late component of complements deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169150	"" []	3184572	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency due to a late component of complements deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169150	"" []	4392220	\N	\N	EFO	6	EFO	disease	Immunodeficiency due to a late component of complements deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169150	"" []	4392221	\N	\N	EFO	6	EFO	disease	Immunodeficiency due to a late component of complements deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169150	"" []	5411074	\N	\N	EFO	7	EFO	disposition	Immunodeficiency due to a late component of complements deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169150	"" []	6148522	\N	\N	EFO	8	EFO	material property	Immunodeficiency due to a late component of complements deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169150	"" []	6632243	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency due to a late component of complements deficiency
Orphanet:169154	\N	\N	"" []	Orphanet:169154	"" []	73949	\N	\N	EFO	0	EFO	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Orphanet:317416	Orphanet:169154	\N	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	Orphanet:169154	"" []	215584	\N	\N	EFO	1	EFO	T-B+ severe combined immunodeficiency	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Orphanet:183660	Orphanet:317416	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:169154	"" []	569797	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:169154	"" []	1151674	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:169154	"" []	2034085	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169154	"" []	3184573	\N	\N	EFO	5	EFO	Primary immunodeficiency	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169154	"" []	4392222	\N	\N	EFO	6	EFO	Rare genetic immune disease	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169154	"" []	5411075	\N	\N	EFO	7	EFO	genetic disorder	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169154	"" []	5411076	\N	\N	EFO	7	EFO	immune system disease	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169154	"" []	6148523	\N	\N	EFO	8	EFO	disease	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169154	"" []	6148524	\N	\N	EFO	8	EFO	disease	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169154	"" []	6632244	\N	\N	EFO	9	EFO	disposition	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169154	"" []	6925451	\N	\N	EFO	10	EFO	material property	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169154	"" []	7099023	\N	\N	EFO	11	EFO	experimental factor	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Orphanet:169157	\N	\N	"" []	Orphanet:169157	"" []	73950	\N	\N	EFO	0	EFO	T-B+ severe combined immunodeficiency due to CD45 deficiency	T-B+ severe combined immunodeficiency due to CD45 deficiency
Orphanet:317416	Orphanet:169157	\N	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	Orphanet:169157	"" []	215585	\N	\N	EFO	1	EFO	T-B+ severe combined immunodeficiency	T-B+ severe combined immunodeficiency due to CD45 deficiency
Orphanet:183660	Orphanet:317416	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:169157	"" []	569798	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	T-B+ severe combined immunodeficiency due to CD45 deficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:169157	"" []	1151675	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	T-B+ severe combined immunodeficiency due to CD45 deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:169157	"" []	2034086	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	T-B+ severe combined immunodeficiency due to CD45 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169157	"" []	3184574	\N	\N	EFO	5	EFO	Primary immunodeficiency	T-B+ severe combined immunodeficiency due to CD45 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169157	"" []	4392223	\N	\N	EFO	6	EFO	Rare genetic immune disease	T-B+ severe combined immunodeficiency due to CD45 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169157	"" []	5411077	\N	\N	EFO	7	EFO	genetic disorder	T-B+ severe combined immunodeficiency due to CD45 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169157	"" []	5411078	\N	\N	EFO	7	EFO	immune system disease	T-B+ severe combined immunodeficiency due to CD45 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169157	"" []	6148525	\N	\N	EFO	8	EFO	disease	T-B+ severe combined immunodeficiency due to CD45 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169157	"" []	6148526	\N	\N	EFO	8	EFO	disease	T-B+ severe combined immunodeficiency due to CD45 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169157	"" []	6632245	\N	\N	EFO	9	EFO	disposition	T-B+ severe combined immunodeficiency due to CD45 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169157	"" []	6925452	\N	\N	EFO	10	EFO	material property	T-B+ severe combined immunodeficiency due to CD45 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169157	"" []	7099024	\N	\N	EFO	11	EFO	experimental factor	T-B+ severe combined immunodeficiency due to CD45 deficiency
Orphanet:169160	\N	\N	"" []	Orphanet:169160	"" []	73951	\N	\N	EFO	0	EFO	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Orphanet:317416	Orphanet:169160	\N	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	Orphanet:169160	"" []	215586	\N	\N	EFO	1	EFO	T-B+ severe combined immunodeficiency	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Orphanet:183660	Orphanet:317416	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:169160	"" []	569799	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:169160	"" []	1151676	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:169160	"" []	2034087	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169160	"" []	3184575	\N	\N	EFO	5	EFO	Primary immunodeficiency	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169160	"" []	4392224	\N	\N	EFO	6	EFO	Rare genetic immune disease	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169160	"" []	5411079	\N	\N	EFO	7	EFO	genetic disorder	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169160	"" []	5411080	\N	\N	EFO	7	EFO	immune system disease	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169160	"" []	6148527	\N	\N	EFO	8	EFO	disease	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169160	"" []	6148528	\N	\N	EFO	8	EFO	disease	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169160	"" []	6632246	\N	\N	EFO	9	EFO	disposition	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169160	"" []	6925453	\N	\N	EFO	10	EFO	material property	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169160	"" []	7099025	\N	\N	EFO	11	EFO	experimental factor	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Orphanet:169163	\N	\N	"" []	Orphanet:169163	"" []	73952	\N	\N	EFO	0	EFO	Familial scaphocephaly syndrome	Familial scaphocephaly syndrome
Orphanet:139393	Orphanet:169163	\N	"" []	Orphanet:169163	"" []	215587	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Familial scaphocephaly syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:169163	"" []	569800	\N	\N	EFO	2	EFO	Craniosynostosis	Familial scaphocephaly syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:169163	"" []	1151677	\N	\N	EFO	3	EFO	Genetic cranial malformation	Familial scaphocephaly syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:169163	"" []	1151678	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Familial scaphocephaly syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:169163	"" []	2034088	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial scaphocephaly syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:169163	"" []	2034089	\N	\N	EFO	4	EFO	Rare genetic bone disease	Familial scaphocephaly syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:169163	"" []	2034090	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Familial scaphocephaly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169163	"" []	4392227	\N	\N	EFO	6	EFO	genetic disorder	Familial scaphocephaly syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169163	"" []	3184577	\N	\N	EFO	5	EFO	genetic disorder	Familial scaphocephaly syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:169163	"" []	3184578	\N	\N	EFO	5	EFO	bone disease	Familial scaphocephaly syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:169163	"" []	3184579	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Familial scaphocephaly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169163	"" []	5181744	\N	\N	EFO	7	EFO	disease	Familial scaphocephaly syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:169163	"" []	4392226	\N	\N	EFO	6	EFO	skeletal system disease	Familial scaphocephaly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169163	"" []	5997124	\N	\N	EFO	8	EFO	disposition	Familial scaphocephaly syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169163	"" []	5411082	\N	\N	EFO	7	EFO	disease	Familial scaphocephaly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169163	"" []	6550652	\N	\N	EFO	9	EFO	material property	Familial scaphocephaly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169163	"" []	6889069	\N	\N	EFO	10	EFO	experimental factor	Familial scaphocephaly syndrome
Orphanet:169186	\N	\N	"" []	Orphanet:169186	"" []	73953	\N	\N	EFO	0	EFO	Autosomal recessive centronuclear myopathy	Autosomal recessive centronuclear myopathy
Orphanet:209053	Orphanet:169186	\N	"" []	Orphanet:169186	"" []	215588	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of titin	Autosomal recessive centronuclear myopathy
Orphanet:595	Orphanet:169186	\N	"" []	Orphanet:169186	"" []	215589	\N	\N	EFO	1	EFO	Centronuclear myopathy	Autosomal recessive centronuclear myopathy
Orphanet:207049	Orphanet:209053	\N	"" []	Orphanet:169186	"" []	569801	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive centronuclear myopathy
Orphanet:97245	Orphanet:595	\N	"" []	Orphanet:169186	"" []	569802	\N	\N	EFO	2	EFO	Congenital myopathy	Autosomal recessive centronuclear myopathy
Orphanet:98578	Orphanet:595	\N	"" []	Orphanet:169186	"" []	569803	\N	\N	EFO	2	EFO	Ptosis	Autosomal recessive centronuclear myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:169186	"" []	1151679	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal recessive centronuclear myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:169186	"" []	1151680	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Autosomal recessive centronuclear myopathy
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:169186	"" []	1151681	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Autosomal recessive centronuclear myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:169186	"" []	4392230	\N	\N	EFO	6	EFO	muscular disease	Autosomal recessive centronuclear myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:169186	"" []	4392231	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive centronuclear myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:169186	"" []	2034093	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Autosomal recessive centronuclear myopathy
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:169186	"" []	2034094	\N	\N	EFO	4	EFO	Rare palpebral disease	Autosomal recessive centronuclear myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:169186	"" []	5059662	\N	\N	EFO	7	EFO	skeletal system disease	Autosomal recessive centronuclear myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169186	"" []	5059663	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive centronuclear myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:169186	"" []	3184582	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal recessive centronuclear myopathy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:169186	"" []	3184583	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Autosomal recessive centronuclear myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169186	"" []	5876845	\N	\N	EFO	8	EFO	disease	Autosomal recessive centronuclear myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169186	"" []	5876846	\N	\N	EFO	8	EFO	disease	Autosomal recessive centronuclear myopathy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:169186	"" []	4392232	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive centronuclear myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169186	"" []	6470053	\N	\N	EFO	9	EFO	disposition	Autosomal recessive centronuclear myopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169186	"" []	5411084	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive centronuclear myopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:169186	"" []	5411085	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive centronuclear myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169186	"" []	6848325	\N	\N	EFO	10	EFO	material property	Autosomal recessive centronuclear myopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169186	"" []	6148531	\N	\N	EFO	8	EFO	disease	Autosomal recessive centronuclear myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169186	"" []	7068386	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive centronuclear myopathy
Orphanet:169189	\N	\N	"" []	Orphanet:169189	"" []	73954	\N	\N	EFO	0	EFO	Autosomal dominant centronuclear myopathy	Autosomal dominant centronuclear myopathy
Orphanet:595	Orphanet:169189	\N	"" []	Orphanet:169189	"" []	215590	\N	\N	EFO	1	EFO	Centronuclear myopathy	Autosomal dominant centronuclear myopathy
Orphanet:97245	Orphanet:595	\N	"" []	Orphanet:169189	"" []	569804	\N	\N	EFO	2	EFO	Congenital myopathy	Autosomal dominant centronuclear myopathy
Orphanet:98578	Orphanet:595	\N	"" []	Orphanet:169189	"" []	569805	\N	\N	EFO	2	EFO	Ptosis	Autosomal dominant centronuclear myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:169189	"" []	1151682	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Autosomal dominant centronuclear myopathy
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:169189	"" []	1151683	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Autosomal dominant centronuclear myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:169189	"" []	2034095	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Autosomal dominant centronuclear myopathy
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:169189	"" []	2034096	\N	\N	EFO	4	EFO	Rare palpebral disease	Autosomal dominant centronuclear myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:169189	"" []	3184584	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal dominant centronuclear myopathy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:169189	"" []	3184585	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Autosomal dominant centronuclear myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:169189	"" []	4392233	\N	\N	EFO	6	EFO	muscular disease	Autosomal dominant centronuclear myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:169189	"" []	4392234	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant centronuclear myopathy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:169189	"" []	4392235	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal dominant centronuclear myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:169189	"" []	5411086	\N	\N	EFO	7	EFO	skeletal system disease	Autosomal dominant centronuclear myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169189	"" []	5411087	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant centronuclear myopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169189	"" []	5411088	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant centronuclear myopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:169189	"" []	5411089	\N	\N	EFO	7	EFO	eye disease	Autosomal dominant centronuclear myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169189	"" []	6148532	\N	\N	EFO	8	EFO	disease	Autosomal dominant centronuclear myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169189	"" []	6148533	\N	\N	EFO	8	EFO	disease	Autosomal dominant centronuclear myopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169189	"" []	6148534	\N	\N	EFO	8	EFO	disease	Autosomal dominant centronuclear myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169189	"" []	6632249	\N	\N	EFO	9	EFO	disposition	Autosomal dominant centronuclear myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169189	"" []	6925454	\N	\N	EFO	10	EFO	material property	Autosomal dominant centronuclear myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169189	"" []	7099026	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant centronuclear myopathy
Orphanet:1692	\N	\N	"" []	Orphanet:1692	"" []	73955	\N	\N	EFO	0	EFO	Mosaic trisomy 1	Mosaic trisomy 1
Orphanet:98131	Orphanet:1692	\N	"" []	Orphanet:1692	"" []	215591	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 1
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:1692	"" []	569806	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 1
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1692	"" []	1151684	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1692	"" []	2034097	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1692	"" []	3184586	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1692	"" []	4392236	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1692	"" []	5411090	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1692	"" []	6148535	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1692	"" []	6632250	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 1
Orphanet:169346	\N	\N	"" []	Orphanet:169346	"" []	73956	\N	\N	EFO	0	EFO	DNA repair defect other than combined T-cell and B-cell immunodeficiencies	DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Orphanet:331217	Orphanet:169346	\N	"" []	Orphanet:169346	"" []	215592	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:169346	"" []	569807	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169346	"" []	1151685	\N	\N	EFO	3	EFO	Primary immunodeficiency	DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169346	"" []	2034098	\N	\N	EFO	4	EFO	Rare genetic immune disease	DNA repair defect other than combined T-cell and B-cell immunodeficiencies
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169346	"" []	3184587	\N	\N	EFO	5	EFO	genetic disorder	DNA repair defect other than combined T-cell and B-cell immunodeficiencies
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169346	"" []	3184588	\N	\N	EFO	5	EFO	immune system disease	DNA repair defect other than combined T-cell and B-cell immunodeficiencies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169346	"" []	4392237	\N	\N	EFO	6	EFO	disease	DNA repair defect other than combined T-cell and B-cell immunodeficiencies
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169346	"" []	4392238	\N	\N	EFO	6	EFO	disease	DNA repair defect other than combined T-cell and B-cell immunodeficiencies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169346	"" []	5411091	\N	\N	EFO	7	EFO	disposition	DNA repair defect other than combined T-cell and B-cell immunodeficiencies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169346	"" []	6148536	\N	\N	EFO	8	EFO	material property	DNA repair defect other than combined T-cell and B-cell immunodeficiencies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169346	"" []	6632251	\N	\N	EFO	9	EFO	experimental factor	DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Orphanet:169349	\N	\N	"" []	Orphanet:169349	"" []	73957	\N	\N	EFO	0	EFO	Immuno-osseous dysplasia	Immuno-osseous dysplasia
Orphanet:331217	Orphanet:169349	\N	"" []	Orphanet:169349	"" []	215593	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Immuno-osseous dysplasia
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:169349	"" []	569808	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immuno-osseous dysplasia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169349	"" []	1151686	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immuno-osseous dysplasia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169349	"" []	2034099	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immuno-osseous dysplasia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169349	"" []	3184589	\N	\N	EFO	5	EFO	genetic disorder	Immuno-osseous dysplasia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169349	"" []	3184590	\N	\N	EFO	5	EFO	immune system disease	Immuno-osseous dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169349	"" []	4392239	\N	\N	EFO	6	EFO	disease	Immuno-osseous dysplasia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169349	"" []	4392240	\N	\N	EFO	6	EFO	disease	Immuno-osseous dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169349	"" []	5411092	\N	\N	EFO	7	EFO	disposition	Immuno-osseous dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169349	"" []	6148537	\N	\N	EFO	8	EFO	material property	Immuno-osseous dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169349	"" []	6632252	\N	\N	EFO	9	EFO	experimental factor	Immuno-osseous dysplasia
Orphanet:169355	\N	\N	"" []	Orphanet:169355	"" []	73958	\N	\N	EFO	0	EFO	Immunodeficiency syndrome with autoimmunity	Immunodeficiency syndrome with autoimmunity
Orphanet:169361	Orphanet:169355	\N	"" []	Orphanet:169355	"" []	215594	\N	\N	EFO	1	EFO	Immune dysregulation disease with immunodeficiency	Immunodeficiency syndrome with autoimmunity
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:169355	"" []	569809	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immunodeficiency syndrome with autoimmunity
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169355	"" []	1151687	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency syndrome with autoimmunity
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169355	"" []	2034100	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency syndrome with autoimmunity
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169355	"" []	3184591	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency syndrome with autoimmunity
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169355	"" []	3184592	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency syndrome with autoimmunity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169355	"" []	4392241	\N	\N	EFO	6	EFO	disease	Immunodeficiency syndrome with autoimmunity
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169355	"" []	4392242	\N	\N	EFO	6	EFO	disease	Immunodeficiency syndrome with autoimmunity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169355	"" []	5411093	\N	\N	EFO	7	EFO	disposition	Immunodeficiency syndrome with autoimmunity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169355	"" []	6148538	\N	\N	EFO	8	EFO	material property	Immunodeficiency syndrome with autoimmunity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169355	"" []	6632253	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency syndrome with autoimmunity
Orphanet:169361	\N	\N	"" []	Orphanet:169361	"" []	73959	\N	\N	EFO	0	EFO	Immune dysregulation disease with immunodeficiency	Immune dysregulation disease with immunodeficiency
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:169361	"" []	215595	\N	\N	EFO	1	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immune dysregulation disease with immunodeficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169361	"" []	569810	\N	\N	EFO	2	EFO	Primary immunodeficiency	Immune dysregulation disease with immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169361	"" []	1151688	\N	\N	EFO	3	EFO	Rare genetic immune disease	Immune dysregulation disease with immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169361	"" []	2034101	\N	\N	EFO	4	EFO	genetic disorder	Immune dysregulation disease with immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169361	"" []	2034102	\N	\N	EFO	4	EFO	immune system disease	Immune dysregulation disease with immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169361	"" []	3184593	\N	\N	EFO	5	EFO	disease	Immune dysregulation disease with immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169361	"" []	3184594	\N	\N	EFO	5	EFO	disease	Immune dysregulation disease with immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169361	"" []	4392243	\N	\N	EFO	6	EFO	disposition	Immune dysregulation disease with immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169361	"" []	5411094	\N	\N	EFO	7	EFO	material property	Immune dysregulation disease with immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169361	"" []	6148539	\N	\N	EFO	8	EFO	experimental factor	Immune dysregulation disease with immunodeficiency
Orphanet:169443	\N	\N	"" []	Orphanet:169443	"" []	73960	\N	\N	EFO	0	EFO	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
Orphanet:101977	Orphanet:169443	\N	"" []	Orphanet:169443	"" []	215596	\N	\N	EFO	1	EFO	Immunodeficiency predominantly affecting antibody production	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:169443	"" []	569811	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169443	"" []	1151689	\N	\N	EFO	3	EFO	Primary immunodeficiency	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169443	"" []	2034103	\N	\N	EFO	4	EFO	Rare genetic immune disease	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169443	"" []	3184595	\N	\N	EFO	5	EFO	genetic disorder	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169443	"" []	3184596	\N	\N	EFO	5	EFO	immune system disease	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169443	"" []	4392244	\N	\N	EFO	6	EFO	disease	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169443	"" []	4392245	\N	\N	EFO	6	EFO	disease	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169443	"" []	5411095	\N	\N	EFO	7	EFO	disposition	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169443	"" []	6148540	\N	\N	EFO	8	EFO	material property	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169443	"" []	6632254	\N	\N	EFO	9	EFO	experimental factor	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
Orphanet:169446	\N	\N	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	73961	\N	\N	EFO	0	EFO	Autosomal recessive hyper-IgE syndrome	Autosomal recessive hyper-IgE syndrome
Orphanet:331223	Orphanet:169446	\N	"" []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	215597	\N	\N	EFO	1	EFO	Hyper-IgE syndrome	Autosomal recessive hyper-IgE syndrome
Orphanet:331217	Orphanet:331223	\N	"" []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	569812	\N	\N	EFO	2	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Autosomal recessive hyper-IgE syndrome
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	1151690	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Autosomal recessive hyper-IgE syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	2034104	\N	\N	EFO	4	EFO	Primary immunodeficiency	Autosomal recessive hyper-IgE syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	3184597	\N	\N	EFO	5	EFO	Rare genetic immune disease	Autosomal recessive hyper-IgE syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	4392246	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive hyper-IgE syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	4392247	\N	\N	EFO	6	EFO	immune system disease	Autosomal recessive hyper-IgE syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	5411096	\N	\N	EFO	7	EFO	disease	Autosomal recessive hyper-IgE syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	5411097	\N	\N	EFO	7	EFO	disease	Autosomal recessive hyper-IgE syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	6148541	\N	\N	EFO	8	EFO	disposition	Autosomal recessive hyper-IgE syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	6632255	\N	\N	EFO	9	EFO	material property	Autosomal recessive hyper-IgE syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169446	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	6925455	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive hyper-IgE syndrome
Orphanet:169464	\N	\N	"" []	Orphanet:169464	"" []	73962	\N	\N	EFO	0	EFO	Primary CD59 deficiency	Primary CD59 deficiency
Orphanet:98364	Orphanet:169464	\N	"" []	Orphanet:169464	"" []	215598	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Primary CD59 deficiency
Orphanet:98497	Orphanet:169464	\N	"" []	Orphanet:169464	"" []	215599	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Primary CD59 deficiency
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:169464	"" []	569813	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Primary CD59 deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:169464	"" []	569814	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Primary CD59 deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:169464	"" []	1151691	\N	\N	EFO	3	EFO	Rare constitutional anemia	Primary CD59 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169464	"" []	1151692	\N	\N	EFO	3	EFO	genetic disorder	Primary CD59 deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:169464	"" []	2034105	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Primary CD59 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169464	"" []	4392248	\N	\N	EFO	6	EFO	disease	Primary CD59 deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169464	"" []	3184598	\N	\N	EFO	5	EFO	genetic disorder	Primary CD59 deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:169464	"" []	3184599	\N	\N	EFO	5	EFO	hematological system disease	Primary CD59 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169464	"" []	5059664	\N	\N	EFO	7	EFO	disposition	Primary CD59 deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169464	"" []	4392249	\N	\N	EFO	6	EFO	disease	Primary CD59 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169464	"" []	5876847	\N	\N	EFO	8	EFO	material property	Primary CD59 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169464	"" []	6470054	\N	\N	EFO	9	EFO	experimental factor	Primary CD59 deficiency
Orphanet:169467	\N	\N	"" []	Orphanet:169467	"" []	73963	\N	\N	EFO	0	EFO	Recurrent Neisseria infections due to factor D deficiency	Recurrent Neisseria infections due to factor D deficiency
Orphanet:101992	Orphanet:169467	\N	"" []	Orphanet:169467	"" []	215600	\N	\N	EFO	1	EFO	Immunodeficiency due to a complement cascade protein anomaly	Recurrent Neisseria infections due to factor D deficiency
Orphanet:101988	Orphanet:101992	\N	"" []	Orphanet:169467	"" []	569815	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Recurrent Neisseria infections due to factor D deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:169467	"" []	1151693	\N	\N	EFO	3	EFO	Primary immunodeficiency	Recurrent Neisseria infections due to factor D deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:169467	"" []	2034107	\N	\N	EFO	4	EFO	Rare genetic immune disease	Recurrent Neisseria infections due to factor D deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169467	"" []	3184601	\N	\N	EFO	5	EFO	genetic disorder	Recurrent Neisseria infections due to factor D deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:169467	"" []	3184602	\N	\N	EFO	5	EFO	immune system disease	Recurrent Neisseria infections due to factor D deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169467	"" []	4392251	\N	\N	EFO	6	EFO	disease	Recurrent Neisseria infections due to factor D deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169467	"" []	4392252	\N	\N	EFO	6	EFO	disease	Recurrent Neisseria infections due to factor D deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169467	"" []	5411099	\N	\N	EFO	7	EFO	disposition	Recurrent Neisseria infections due to factor D deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169467	"" []	6148542	\N	\N	EFO	8	EFO	material property	Recurrent Neisseria infections due to factor D deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169467	"" []	6632256	\N	\N	EFO	9	EFO	experimental factor	Recurrent Neisseria infections due to factor D deficiency
Orphanet:1695	\N	\N	"" []	Orphanet:1695	"" []	73964	\N	\N	EFO	0	EFO	Non-distal trisomy 10q	Non-distal trisomy 10q
Orphanet:262914	Orphanet:1695	\N	"" []	Orphanet:1695	"" []	215601	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 10	Non-distal trisomy 10q
Orphanet:262648	Orphanet:262914	\N	"" []	Orphanet:1695	"" []	569816	\N	\N	EFO	2	EFO	Partial duplication of chromosome 10	Non-distal trisomy 10q
Orphanet:98132	Orphanet:262648	\N	"" []	Orphanet:1695	"" []	1151694	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Non-distal trisomy 10q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1695	"" []	2034108	\N	\N	EFO	4	EFO	Autosomal trisomy	Non-distal trisomy 10q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1695	"" []	3184603	\N	\N	EFO	5	EFO	Autosomal anomaly	Non-distal trisomy 10q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1695	"" []	4392253	\N	\N	EFO	6	EFO	Chromosomal anomaly	Non-distal trisomy 10q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1695	"" []	5411100	\N	\N	EFO	7	EFO	genetic disorder	Non-distal trisomy 10q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1695	"" []	6148543	\N	\N	EFO	8	EFO	disease	Non-distal trisomy 10q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1695	"" []	6632257	\N	\N	EFO	9	EFO	disposition	Non-distal trisomy 10q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1695	"" []	6925456	\N	\N	EFO	10	EFO	material property	Non-distal trisomy 10q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1695	"" []	7099027	\N	\N	EFO	11	EFO	experimental factor	Non-distal trisomy 10q
Orphanet:169793	\N	\N	"" []	Orphanet:169793	"" []	73965	\N	\N	EFO	0	EFO	Severe hemophilia B	Severe hemophilia B
Orphanet:98879	Orphanet:169793	\N	"" []	Orphanet:169793	"" []	215602	\N	\N	EFO	1	EFO	Hemophilia B	Severe hemophilia B
Orphanet:448	Orphanet:98879	\N	"" []	Orphanet:169793	"" []	569817	\N	\N	EFO	2	EFO	Hemophilia	Severe hemophilia B
Orphanet:68334	Orphanet:448	\N	"" []	Orphanet:169793	"" []	1151695	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Severe hemophilia B
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:169793	"" []	2034109	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Severe hemophilia B
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:169793	"" []	3184604	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Severe hemophilia B
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169793	"" []	4392254	\N	\N	EFO	6	EFO	genetic disorder	Severe hemophilia B
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:169793	"" []	4392255	\N	\N	EFO	6	EFO	hematological system disease	Severe hemophilia B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169793	"" []	5411101	\N	\N	EFO	7	EFO	disease	Severe hemophilia B
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169793	"" []	5411102	\N	\N	EFO	7	EFO	disease	Severe hemophilia B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169793	"" []	6148544	\N	\N	EFO	8	EFO	disposition	Severe hemophilia B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169793	"" []	6632258	\N	\N	EFO	9	EFO	material property	Severe hemophilia B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169793	"" []	6925457	\N	\N	EFO	10	EFO	experimental factor	Severe hemophilia B
Orphanet:169796	\N	\N	"" []	Orphanet:169796	"" []	73966	\N	\N	EFO	0	EFO	Moderately severe hemophilia B	Moderately severe hemophilia B
Orphanet:98879	Orphanet:169796	\N	"" []	Orphanet:169796	"" []	215603	\N	\N	EFO	1	EFO	Hemophilia B	Moderately severe hemophilia B
Orphanet:448	Orphanet:98879	\N	"" []	Orphanet:169796	"" []	569818	\N	\N	EFO	2	EFO	Hemophilia	Moderately severe hemophilia B
Orphanet:68334	Orphanet:448	\N	"" []	Orphanet:169796	"" []	1151696	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Moderately severe hemophilia B
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:169796	"" []	2034110	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Moderately severe hemophilia B
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:169796	"" []	3184605	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Moderately severe hemophilia B
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169796	"" []	4392256	\N	\N	EFO	6	EFO	genetic disorder	Moderately severe hemophilia B
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:169796	"" []	4392257	\N	\N	EFO	6	EFO	hematological system disease	Moderately severe hemophilia B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169796	"" []	5411103	\N	\N	EFO	7	EFO	disease	Moderately severe hemophilia B
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169796	"" []	5411104	\N	\N	EFO	7	EFO	disease	Moderately severe hemophilia B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169796	"" []	6148545	\N	\N	EFO	8	EFO	disposition	Moderately severe hemophilia B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169796	"" []	6632259	\N	\N	EFO	9	EFO	material property	Moderately severe hemophilia B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169796	"" []	6925458	\N	\N	EFO	10	EFO	experimental factor	Moderately severe hemophilia B
Orphanet:169799	\N	\N	"" []	Orphanet:169799	"" []	73967	\N	\N	EFO	0	EFO	Mild hemophilia B	Mild hemophilia B
Orphanet:98879	Orphanet:169799	\N	"" []	Orphanet:169799	"" []	215604	\N	\N	EFO	1	EFO	Hemophilia B	Mild hemophilia B
Orphanet:448	Orphanet:98879	\N	"" []	Orphanet:169799	"" []	569819	\N	\N	EFO	2	EFO	Hemophilia	Mild hemophilia B
Orphanet:68334	Orphanet:448	\N	"" []	Orphanet:169799	"" []	1151697	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Mild hemophilia B
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:169799	"" []	2034111	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Mild hemophilia B
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:169799	"" []	3184606	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Mild hemophilia B
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169799	"" []	4392258	\N	\N	EFO	6	EFO	genetic disorder	Mild hemophilia B
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:169799	"" []	4392259	\N	\N	EFO	6	EFO	hematological system disease	Mild hemophilia B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169799	"" []	5411105	\N	\N	EFO	7	EFO	disease	Mild hemophilia B
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169799	"" []	5411106	\N	\N	EFO	7	EFO	disease	Mild hemophilia B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169799	"" []	6148546	\N	\N	EFO	8	EFO	disposition	Mild hemophilia B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169799	"" []	6632260	\N	\N	EFO	9	EFO	material property	Mild hemophilia B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169799	"" []	6925459	\N	\N	EFO	10	EFO	experimental factor	Mild hemophilia B
Orphanet:1698	\N	\N	"" []	Orphanet:1698	"" []	73968	\N	\N	EFO	0	EFO	Mosaic trisomy 12	Mosaic trisomy 12
Orphanet:98131	Orphanet:1698	\N	"" []	Orphanet:1698	"" []	215605	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 12
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:1698	"" []	569820	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 12
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1698	"" []	1151698	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 12
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1698	"" []	2034112	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 12
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1698	"" []	3184607	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 12
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1698	"" []	4392260	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 12
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1698	"" []	5411107	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 12
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1698	"" []	6148547	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 12
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1698	"" []	6632261	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 12
Orphanet:169802	\N	\N	"" []	Orphanet:169802	"" []	73969	\N	\N	EFO	0	EFO	Severe hemophilia A	Severe hemophilia A
Orphanet:98878	Orphanet:169802	\N	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	Orphanet:169802	"" []	215606	\N	\N	EFO	1	EFO	Hemophilia A	Severe hemophilia A
Orphanet:448	Orphanet:98878	\N	"" []	Orphanet:169802	"" []	569821	\N	\N	EFO	2	EFO	Hemophilia	Severe hemophilia A
Orphanet:68334	Orphanet:448	\N	"" []	Orphanet:169802	"" []	1151699	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Severe hemophilia A
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:169802	"" []	2034113	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Severe hemophilia A
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:169802	"" []	3184608	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Severe hemophilia A
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169802	"" []	4392261	\N	\N	EFO	6	EFO	genetic disorder	Severe hemophilia A
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:169802	"" []	4392262	\N	\N	EFO	6	EFO	hematological system disease	Severe hemophilia A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169802	"" []	5411108	\N	\N	EFO	7	EFO	disease	Severe hemophilia A
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169802	"" []	5411109	\N	\N	EFO	7	EFO	disease	Severe hemophilia A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169802	"" []	6148548	\N	\N	EFO	8	EFO	disposition	Severe hemophilia A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169802	"" []	6632262	\N	\N	EFO	9	EFO	material property	Severe hemophilia A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169802	"" []	6925460	\N	\N	EFO	10	EFO	experimental factor	Severe hemophilia A
Orphanet:169805	\N	\N	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	73970	\N	\N	EFO	0	EFO	Moderately severe hemophilia A	Moderately severe hemophilia A
Orphanet:98878	Orphanet:169805	\N	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	215607	\N	\N	EFO	1	EFO	Hemophilia A	Moderately severe hemophilia A
Orphanet:448	Orphanet:98878	\N	"" []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	569822	\N	\N	EFO	2	EFO	Hemophilia	Moderately severe hemophilia A
Orphanet:68334	Orphanet:448	\N	"" []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	1151700	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Moderately severe hemophilia A
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	2034114	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Moderately severe hemophilia A
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	3184609	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Moderately severe hemophilia A
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	4392263	\N	\N	EFO	6	EFO	genetic disorder	Moderately severe hemophilia A
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	4392264	\N	\N	EFO	6	EFO	hematological system disease	Moderately severe hemophilia A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	5411110	\N	\N	EFO	7	EFO	disease	Moderately severe hemophilia A
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	5411111	\N	\N	EFO	7	EFO	disease	Moderately severe hemophilia A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	6148549	\N	\N	EFO	8	EFO	disposition	Moderately severe hemophilia A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	6632263	\N	\N	EFO	9	EFO	material property	Moderately severe hemophilia A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169805	"Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	6925461	\N	\N	EFO	10	EFO	experimental factor	Moderately severe hemophilia A
Orphanet:169808	\N	\N	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	73971	\N	\N	EFO	0	EFO	Mild hemophilia A	Mild hemophilia A
Orphanet:98878	Orphanet:169808	\N	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	215608	\N	\N	EFO	1	EFO	Hemophilia A	Mild hemophilia A
Orphanet:448	Orphanet:98878	\N	"" []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	569823	\N	\N	EFO	2	EFO	Hemophilia	Mild hemophilia A
Orphanet:68334	Orphanet:448	\N	"" []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	1151701	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Mild hemophilia A
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	2034115	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Mild hemophilia A
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	3184610	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Mild hemophilia A
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	4392265	\N	\N	EFO	6	EFO	genetic disorder	Mild hemophilia A
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	4392266	\N	\N	EFO	6	EFO	hematological system disease	Mild hemophilia A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	5411112	\N	\N	EFO	7	EFO	disease	Mild hemophilia A
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	5411113	\N	\N	EFO	7	EFO	disease	Mild hemophilia A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	6148550	\N	\N	EFO	8	EFO	disposition	Mild hemophilia A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	6632264	\N	\N	EFO	9	EFO	material property	Mild hemophilia A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169808	"Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." []	6925462	\N	\N	EFO	10	EFO	experimental factor	Mild hemophilia A
Orphanet:169826	\N	\N	"" []	Orphanet:169826	"" []	73972	\N	\N	EFO	0	EFO	Congenital vitamin K-dependent coagulation factors deficiency	Congenital vitamin K-dependent coagulation factors deficiency
Orphanet:68334	Orphanet:169826	\N	"" []	Orphanet:169826	"" []	215609	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital vitamin K-dependent coagulation factors deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:169826	"" []	569824	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Congenital vitamin K-dependent coagulation factors deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:169826	"" []	1151702	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital vitamin K-dependent coagulation factors deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:169826	"" []	2034116	\N	\N	EFO	4	EFO	genetic disorder	Congenital vitamin K-dependent coagulation factors deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:169826	"" []	2034117	\N	\N	EFO	4	EFO	hematological system disease	Congenital vitamin K-dependent coagulation factors deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169826	"" []	3184611	\N	\N	EFO	5	EFO	disease	Congenital vitamin K-dependent coagulation factors deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:169826	"" []	3184612	\N	\N	EFO	5	EFO	disease	Congenital vitamin K-dependent coagulation factors deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:169826	"" []	4392267	\N	\N	EFO	6	EFO	disposition	Congenital vitamin K-dependent coagulation factors deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:169826	"" []	5411114	\N	\N	EFO	7	EFO	material property	Congenital vitamin K-dependent coagulation factors deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:169826	"" []	6148551	\N	\N	EFO	8	EFO	experimental factor	Congenital vitamin K-dependent coagulation factors deficiency
Orphanet:1699	\N	\N	"" []	Orphanet:1699	"" []	73973	\N	\N	EFO	0	EFO	Trisomy 12p	Trisomy 12p
Orphanet:262658	Orphanet:1699	\N	"" []	Orphanet:1699	"" []	215610	\N	\N	EFO	1	EFO	Partial trisomy/tetrasomy of the short arm of chromosome 12	Trisomy 12p
Orphanet:98132	Orphanet:262658	\N	"" []	Orphanet:1699	"" []	569825	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Trisomy 12p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1699	"" []	1151703	\N	\N	EFO	3	EFO	Autosomal trisomy	Trisomy 12p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1699	"" []	2034118	\N	\N	EFO	4	EFO	Autosomal anomaly	Trisomy 12p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1699	"" []	3184613	\N	\N	EFO	5	EFO	Chromosomal anomaly	Trisomy 12p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1699	"" []	4392268	\N	\N	EFO	6	EFO	genetic disorder	Trisomy 12p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1699	"" []	5411115	\N	\N	EFO	7	EFO	disease	Trisomy 12p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1699	"" []	6148552	\N	\N	EFO	8	EFO	disposition	Trisomy 12p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1699	"" []	6632265	\N	\N	EFO	9	EFO	material property	Trisomy 12p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1699	"" []	6925463	\N	\N	EFO	10	EFO	experimental factor	Trisomy 12p
Orphanet:17	\N	\N	"" []	Orphanet:17	"" []	73974	\N	\N	EFO	0	EFO	Fatal infantile lactic acidosis with methylmalonic aciduria	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:35698	Orphanet:17	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:17	"" []	215611	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:17	"" []	569826	\N	\N	EFO	2	EFO	Metabolic disease with intestinal involvement	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:17	"" []	569827	\N	\N	EFO	2	EFO	Mitochondrial myopathy	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:17	"" []	569828	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:17	"" []	569829	\N	\N	EFO	2	EFO	Mitochondrial disease with eye involvement	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:17	"" []	1151704	\N	\N	EFO	3	EFO	Genetic intestinal disease	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:17	"" []	1151705	\N	\N	EFO	3	EFO	Muscular lipidosis	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:17	"" []	1151706	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:17	"" []	1151707	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:17	"" []	2034119	\N	\N	EFO	4	EFO	digestive system disease	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:17	"" []	2034120	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:17	"" []	2034121	\N	\N	EFO	4	EFO	Metabolic myopathy	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:17	"" []	2034122	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:17	"" []	2034123	\N	\N	EFO	4	EFO	Rare genetic eye disease	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:17	"" []	3184614	\N	\N	EFO	5	EFO	disease	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:17	"" []	3184615	\N	\N	EFO	5	EFO	genetic disorder	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:17	"" []	3184616	\N	\N	EFO	5	EFO	Non-dystrophic myopathy	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:17	"" []	3184617	\N	\N	EFO	5	EFO	Mitochondrial disease	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:17	"" []	3184618	\N	\N	EFO	5	EFO	genetic disorder	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:17	"" []	3184619	\N	\N	EFO	5	EFO	eye disease	Fatal infantile lactic acidosis with methylmalonic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:17	"" []	7029830	\N	\N	EFO	11	EFO	disposition	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:17	"" []	6925465	\N	\N	EFO	10	EFO	disease	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:17	"" []	4392271	\N	\N	EFO	6	EFO	Genetic skeletal muscle disease	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:17	"" []	4392272	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:17	"" []	4392273	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:17	"" []	4392274	\N	\N	EFO	6	EFO	disease	Fatal infantile lactic acidosis with methylmalonic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:17	"" []	7173618	\N	\N	EFO	12	EFO	material property	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:17	"" []	5411118	\N	\N	EFO	7	EFO	Genetic neuromuscular disease	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:17	"" []	5411119	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:17	"" []	5411120	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:17	"" []	7275670	\N	\N	EFO	13	EFO	experimental factor	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:17	"" []	6148554	\N	\N	EFO	8	EFO	muscular disease	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:17	"" []	6148555	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:17	"" []	6148556	\N	\N	EFO	8	EFO	genetic disorder	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:17	"" []	6148557	\N	\N	EFO	8	EFO	genetic disorder	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:17	"" []	6148558	\N	\N	EFO	8	EFO	metabolic disease	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:17	"" []	6632266	\N	\N	EFO	9	EFO	skeletal system disease	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:17	"" []	6632267	\N	\N	EFO	9	EFO	genetic disorder	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:17	"" []	6632269	\N	\N	EFO	9	EFO	disease	Fatal infantile lactic acidosis with methylmalonic aciduria
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:17	"" []	6925464	\N	\N	EFO	10	EFO	disease	Fatal infantile lactic acidosis with methylmalonic aciduria
Orphanet:170	\N	\N	"" []	Orphanet:170	"" []	73975	\N	\N	EFO	0	EFO	Woolly hair	Woolly hair
Orphanet:79366	Orphanet:170	\N	"" []	Orphanet:170	"" []	215612	\N	\N	EFO	1	EFO	Isolated hair shaft abnormality	Woolly hair
Orphanet:183450	Orphanet:79366	\N	"" []	Orphanet:170	"" []	569830	\N	\N	EFO	2	EFO	Genetic hair anomaly	Woolly hair
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:170	"" []	1151708	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Woolly hair
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:170	"" []	2034124	\N	\N	EFO	4	EFO	Rare genetic skin disease	Woolly hair
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:170	"" []	3184620	\N	\N	EFO	5	EFO	genetic disorder	Woolly hair
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:170	"" []	3184621	\N	\N	EFO	5	EFO	skin disease	Woolly hair
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:170	"" []	4392275	\N	\N	EFO	6	EFO	disease	Woolly hair
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:170	"" []	4392276	\N	\N	EFO	6	EFO	disease	Woolly hair
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:170	"" []	5411121	\N	\N	EFO	7	EFO	disposition	Woolly hair
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:170	"" []	6148559	\N	\N	EFO	8	EFO	material property	Woolly hair
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:170	"" []	6632270	\N	\N	EFO	9	EFO	experimental factor	Woolly hair
Orphanet:1702	\N	\N	"" []	Orphanet:1702	"" []	73976	\N	\N	EFO	0	EFO	Non-distal trisomy 13q	Non-distal trisomy 13q
Orphanet:262932	Orphanet:1702	\N	"" []	Orphanet:1702	"" []	215613	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 13	Non-distal trisomy 13q
Orphanet:98132	Orphanet:262932	\N	"" []	Orphanet:1702	"" []	569831	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Non-distal trisomy 13q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1702	"" []	1151709	\N	\N	EFO	3	EFO	Autosomal trisomy	Non-distal trisomy 13q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1702	"" []	2034125	\N	\N	EFO	4	EFO	Autosomal anomaly	Non-distal trisomy 13q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1702	"" []	3184622	\N	\N	EFO	5	EFO	Chromosomal anomaly	Non-distal trisomy 13q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1702	"" []	4392277	\N	\N	EFO	6	EFO	genetic disorder	Non-distal trisomy 13q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1702	"" []	5411122	\N	\N	EFO	7	EFO	disease	Non-distal trisomy 13q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1702	"" []	6148560	\N	\N	EFO	8	EFO	disposition	Non-distal trisomy 13q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1702	"" []	6632271	\N	\N	EFO	9	EFO	material property	Non-distal trisomy 13q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1702	"" []	6925466	\N	\N	EFO	10	EFO	experimental factor	Non-distal trisomy 13q
Orphanet:1703	\N	\N	"" []	Orphanet:1703	"" []	73977	\N	\N	EFO	0	EFO	Mosaic trisomy 14	Mosaic trisomy 14
Orphanet:98131	Orphanet:1703	\N	"" []	Orphanet:1703	"" []	215614	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 14
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:1703	"" []	569832	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 14
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1703	"" []	1151710	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 14
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1703	"" []	2034126	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 14
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1703	"" []	3184623	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 14
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1703	"" []	4392278	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 14
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1703	"" []	5411123	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 14
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1703	"" []	6148561	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 14
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1703	"" []	6632272	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 14
Orphanet:1705	\N	\N	"" []	Orphanet:1705	"" []	73978	\N	\N	EFO	0	EFO	Distal trisomy 14q	Distal trisomy 14q
Orphanet:108987	Orphanet:1705	\N	"" []	Orphanet:1705	"" []	215615	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Distal trisomy 14q
Orphanet:262941	Orphanet:1705	\N	"" []	Orphanet:1705	"" []	215616	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 14	Distal trisomy 14q
Orphanet:98574	Orphanet:1705	\N	"" []	Orphanet:1705	"" []	215617	\N	\N	EFO	1	EFO	Syndromic epicanthus	Distal trisomy 14q
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1705	"" []	569833	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Distal trisomy 14q
Orphanet:98132	Orphanet:262941	\N	"" []	Orphanet:1705	"" []	569834	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 14q
Orphanet:98573	Orphanet:98574	\N	"" []	Orphanet:1705	"" []	569835	\N	\N	EFO	2	EFO	Epicanthal fold	Distal trisomy 14q
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1705	"" []	1151711	\N	\N	EFO	3	EFO	Rare genetic eye disease	Distal trisomy 14q
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1705	"" []	1151712	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Distal trisomy 14q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1705	"" []	1151713	\N	\N	EFO	3	EFO	Autosomal trisomy	Distal trisomy 14q
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:1705	"" []	1151714	\N	\N	EFO	3	EFO	Canthal anomaly	Distal trisomy 14q
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1705	"" []	5411126	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 14q
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1705	"" []	5411127	\N	\N	EFO	7	EFO	eye disease	Distal trisomy 14q
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1705	"" []	2034129	\N	\N	EFO	4	EFO	genetic disorder	Distal trisomy 14q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1705	"" []	2034130	\N	\N	EFO	4	EFO	Autosomal anomaly	Distal trisomy 14q
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:1705	"" []	2034131	\N	\N	EFO	4	EFO	Rare palpebral disease	Distal trisomy 14q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1705	"" []	5817508	\N	\N	EFO	8	EFO	disease	Distal trisomy 14q
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1705	"" []	5817509	\N	\N	EFO	8	EFO	disease	Distal trisomy 14q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1705	"" []	3184626	\N	\N	EFO	5	EFO	Chromosomal anomaly	Distal trisomy 14q
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1705	"" []	3184627	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Distal trisomy 14q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1705	"" []	6409875	\N	\N	EFO	9	EFO	disposition	Distal trisomy 14q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1705	"" []	4392280	\N	\N	EFO	6	EFO	genetic disorder	Distal trisomy 14q
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1705	"" []	4392281	\N	\N	EFO	6	EFO	Rare genetic eye disease	Distal trisomy 14q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1705	"" []	6807725	\N	\N	EFO	10	EFO	material property	Distal trisomy 14q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1705	"" []	7048563	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 14q
Orphanet:1706	\N	\N	"" []	Orphanet:1706	"" []	73979	\N	\N	EFO	0	EFO	Mosaic trisomy 15	Mosaic trisomy 15
Orphanet:98131	Orphanet:1706	\N	"" []	Orphanet:1706	"" []	215618	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 15
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:1706	"" []	569836	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 15
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1706	"" []	1151715	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 15
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1706	"" []	2034132	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 15
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1706	"" []	3184628	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 15
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1706	"" []	4392282	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 15
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1706	"" []	5411128	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 15
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1706	"" []	6148563	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 15
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1706	"" []	6632273	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 15
Orphanet:1707	\N	\N	"" []	Orphanet:1707	"" []	73980	\N	\N	EFO	0	EFO	Distal trisomy 15q	Distal trisomy 15q
Orphanet:314585	Orphanet:1707	\N	"" []	Orphanet:1707	"" []	215619	\N	\N	EFO	1	EFO	15q overgrowth syndrome	Distal trisomy 15q
Orphanet:102283	Orphanet:314585	\N	"" []	Orphanet:1707	"" []	569837	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Distal trisomy 15q
Orphanet:262950	Orphanet:314585	\N	"" []	Orphanet:1707	"" []	569838	\N	\N	EFO	2	EFO	Partial duplication of the long arm of chromosome 15	Distal trisomy 15q
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1707	"" []	1151716	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Distal trisomy 15q
Orphanet:98132	Orphanet:262950	\N	"" []	Orphanet:1707	"" []	1151717	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 15q
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1707	"" []	2034133	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Distal trisomy 15q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1707	"" []	2034134	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 15q
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1707	"" []	3184629	\N	\N	EFO	5	EFO	genetic disorder	Distal trisomy 15q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1707	"" []	3184630	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 15q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1707	"" []	6148565	\N	\N	EFO	8	EFO	disease	Distal trisomy 15q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1707	"" []	4392284	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 15q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1707	"" []	6470056	\N	\N	EFO	9	EFO	disposition	Distal trisomy 15q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1707	"" []	5411130	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 15q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1707	"" []	6848327	\N	\N	EFO	10	EFO	material property	Distal trisomy 15q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1707	"" []	7068387	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 15q
Orphanet:1708	\N	\N	"" []	Orphanet:1708	"" []	73981	\N	\N	EFO	0	EFO	Mosaic trisomy 16	Mosaic trisomy 16
Orphanet:98131	Orphanet:1708	\N	"" []	Orphanet:1708	"" []	215620	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 16
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:1708	"" []	569839	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 16
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1708	"" []	1151718	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 16
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1708	"" []	2034135	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 16
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1708	"" []	3184631	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1708	"" []	4392285	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1708	"" []	5411131	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1708	"" []	6148566	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1708	"" []	6632275	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 16
Orphanet:1711	\N	\N	"" []	Orphanet:1711	"" []	73982	\N	\N	EFO	0	EFO	Mosaic trisomy 17	Mosaic trisomy 17
Orphanet:98131	Orphanet:1711	\N	"" []	Orphanet:1711	"" []	215621	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 17
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:1711	"" []	569840	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 17
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1711	"" []	1151719	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 17
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1711	"" []	2034136	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 17
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1711	"" []	3184632	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 17
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1711	"" []	4392286	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 17
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1711	"" []	5411132	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 17
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1711	"" []	6148567	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 17
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1711	"" []	6632276	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 17
Orphanet:171201	\N	\N	"" []	Orphanet:171201	"" []	73983	\N	\N	EFO	0	EFO	High anorectal malformation	High anorectal malformation
Orphanet:557	Orphanet:171201	\N	"" []	Orphanet:171201	"" []	215622	\N	\N	EFO	1	EFO	Isolated anorectal malformation	High anorectal malformation
Orphanet:96346	Orphanet:557	\N	"" []	Orphanet:171201	"" []	569841	\N	\N	EFO	2	EFO	Anorectal malformation	High anorectal malformation
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:171201	"" []	1151720	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	High anorectal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:171201	"" []	2034137	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	High anorectal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171201	"" []	3184633	\N	\N	EFO	5	EFO	genetic disorder	High anorectal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171201	"" []	4392287	\N	\N	EFO	6	EFO	disease	High anorectal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171201	"" []	5411133	\N	\N	EFO	7	EFO	disposition	High anorectal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171201	"" []	6148568	\N	\N	EFO	8	EFO	material property	High anorectal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171201	"" []	6632277	\N	\N	EFO	9	EFO	experimental factor	High anorectal malformation
Orphanet:171208	\N	\N	"" []	Orphanet:171208	"" []	73984	\N	\N	EFO	0	EFO	Intermediate anorectal malformation	Intermediate anorectal malformation
Orphanet:557	Orphanet:171208	\N	"" []	Orphanet:171208	"" []	215623	\N	\N	EFO	1	EFO	Isolated anorectal malformation	Intermediate anorectal malformation
Orphanet:96346	Orphanet:557	\N	"" []	Orphanet:171208	"" []	569842	\N	\N	EFO	2	EFO	Anorectal malformation	Intermediate anorectal malformation
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:171208	"" []	1151721	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Intermediate anorectal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:171208	"" []	2034138	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Intermediate anorectal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171208	"" []	3184634	\N	\N	EFO	5	EFO	genetic disorder	Intermediate anorectal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171208	"" []	4392288	\N	\N	EFO	6	EFO	disease	Intermediate anorectal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171208	"" []	5411134	\N	\N	EFO	7	EFO	disposition	Intermediate anorectal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171208	"" []	6148569	\N	\N	EFO	8	EFO	material property	Intermediate anorectal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171208	"" []	6632278	\N	\N	EFO	9	EFO	experimental factor	Intermediate anorectal malformation
Orphanet:171215	\N	\N	"" []	Orphanet:171215	"" []	73985	\N	\N	EFO	0	EFO	Low anorectal malformation	Low anorectal malformation
Orphanet:557	Orphanet:171215	\N	"" []	Orphanet:171215	"" []	215624	\N	\N	EFO	1	EFO	Isolated anorectal malformation	Low anorectal malformation
Orphanet:96346	Orphanet:557	\N	"" []	Orphanet:171215	"" []	569843	\N	\N	EFO	2	EFO	Anorectal malformation	Low anorectal malformation
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:171215	"" []	1151722	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Low anorectal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:171215	"" []	2034139	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Low anorectal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171215	"" []	3184635	\N	\N	EFO	5	EFO	genetic disorder	Low anorectal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171215	"" []	4392289	\N	\N	EFO	6	EFO	disease	Low anorectal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171215	"" []	5411135	\N	\N	EFO	7	EFO	disposition	Low anorectal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171215	"" []	6148570	\N	\N	EFO	8	EFO	material property	Low anorectal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171215	"" []	6632279	\N	\N	EFO	9	EFO	experimental factor	Low anorectal malformation
Orphanet:171220	\N	\N	"" []	Orphanet:171220	"" []	73986	\N	\N	EFO	0	EFO	Rectal duplication	Rectal duplication
Orphanet:96346	Orphanet:171220	\N	"" []	Orphanet:171220	"" []	215625	\N	\N	EFO	1	EFO	Anorectal malformation	Rectal duplication
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:171220	"" []	569844	\N	\N	EFO	2	EFO	Genetic digestive tract malformation	Rectal duplication
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:171220	"" []	1151723	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Rectal duplication
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171220	"" []	2034140	\N	\N	EFO	4	EFO	genetic disorder	Rectal duplication
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171220	"" []	3184636	\N	\N	EFO	5	EFO	disease	Rectal duplication
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171220	"" []	4392290	\N	\N	EFO	6	EFO	disposition	Rectal duplication
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171220	"" []	5411136	\N	\N	EFO	7	EFO	material property	Rectal duplication
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171220	"" []	6148571	\N	\N	EFO	8	EFO	experimental factor	Rectal duplication
Orphanet:1713	\N	\N	"" []	Orphanet:1713	"" []	73987	\N	\N	EFO	0	EFO	17p11.2 microduplication syndrome	17p11.2 microduplication syndrome
Orphanet:262803	Orphanet:1713	\N	"" []	Orphanet:1713	"" []	215626	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 17	17p11.2 microduplication syndrome
Orphanet:262677	Orphanet:262803	\N	"" []	Orphanet:1713	"" []	569845	\N	\N	EFO	2	EFO	Partial duplication of chromosome 17	17p11.2 microduplication syndrome
Orphanet:98132	Orphanet:262677	\N	"" []	Orphanet:1713	"" []	1151724	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	17p11.2 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1713	"" []	2034141	\N	\N	EFO	4	EFO	Autosomal trisomy	17p11.2 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1713	"" []	3184637	\N	\N	EFO	5	EFO	Autosomal anomaly	17p11.2 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1713	"" []	4392291	\N	\N	EFO	6	EFO	Chromosomal anomaly	17p11.2 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1713	"" []	5411137	\N	\N	EFO	7	EFO	genetic disorder	17p11.2 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1713	"" []	6148572	\N	\N	EFO	8	EFO	disease	17p11.2 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1713	"" []	6632280	\N	\N	EFO	9	EFO	disposition	17p11.2 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1713	"" []	6925467	\N	\N	EFO	10	EFO	material property	17p11.2 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1713	"" []	7099028	\N	\N	EFO	11	EFO	experimental factor	17p11.2 microduplication syndrome
Orphanet:171430	\N	\N	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	73988	\N	\N	EFO	0	EFO	Severe congenital nemaline myopathy	Severe congenital nemaline myopathy
Orphanet:209059	Orphanet:171430	\N	"" []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	215627	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of alpha-actin	Severe congenital nemaline myopathy
Orphanet:209182	Orphanet:171430	\N	"" []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	215628	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of nebulin	Severe congenital nemaline myopathy
Orphanet:607	Orphanet:171430	\N	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	215629	\N	\N	EFO	1	EFO	Nemaline myopathy	Severe congenital nemaline myopathy
Orphanet:207049	Orphanet:209059	\N	"" []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	569846	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Severe congenital nemaline myopathy
Orphanet:207049	Orphanet:209182	\N	"" []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	569847	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Severe congenital nemaline myopathy
Orphanet:97245	Orphanet:607	\N	"" []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	569848	\N	\N	EFO	2	EFO	Congenital myopathy	Severe congenital nemaline myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	1151725	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Severe congenital nemaline myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	1151726	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Severe congenital nemaline myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	4392294	\N	\N	EFO	6	EFO	muscular disease	Severe congenital nemaline myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	4392295	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Severe congenital nemaline myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	2034144	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Severe congenital nemaline myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	5059665	\N	\N	EFO	7	EFO	skeletal system disease	Severe congenital nemaline myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	5059666	\N	\N	EFO	7	EFO	genetic disorder	Severe congenital nemaline myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	3184640	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Severe congenital nemaline myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	5876849	\N	\N	EFO	8	EFO	disease	Severe congenital nemaline myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	5876850	\N	\N	EFO	8	EFO	disease	Severe congenital nemaline myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	6470057	\N	\N	EFO	9	EFO	disposition	Severe congenital nemaline myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	6848328	\N	\N	EFO	10	EFO	material property	Severe congenital nemaline myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171430	"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." []	7068388	\N	\N	EFO	11	EFO	experimental factor	Severe congenital nemaline myopathy
Orphanet:171433	\N	\N	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	73989	\N	\N	EFO	0	EFO	Intermediate nemaline myopathy	Intermediate nemaline myopathy
Orphanet:209059	Orphanet:171433	\N	"" []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	215630	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of alpha-actin	Intermediate nemaline myopathy
Orphanet:209182	Orphanet:171433	\N	"" []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	215631	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of nebulin	Intermediate nemaline myopathy
Orphanet:284790	Orphanet:171433	\N	"" []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	215632	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of tropomyosin	Intermediate nemaline myopathy
Orphanet:607	Orphanet:171433	\N	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	215633	\N	\N	EFO	1	EFO	Nemaline myopathy	Intermediate nemaline myopathy
Orphanet:207049	Orphanet:209059	\N	"" []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	569849	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Intermediate nemaline myopathy
Orphanet:207049	Orphanet:209182	\N	"" []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	569850	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Intermediate nemaline myopathy
Orphanet:207049	Orphanet:284790	\N	"" []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	569851	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Intermediate nemaline myopathy
Orphanet:97245	Orphanet:607	\N	"" []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	569852	\N	\N	EFO	2	EFO	Congenital myopathy	Intermediate nemaline myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	1151727	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Intermediate nemaline myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	1151728	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Intermediate nemaline myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	4392298	\N	\N	EFO	6	EFO	muscular disease	Intermediate nemaline myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	4392299	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Intermediate nemaline myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	2034147	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Intermediate nemaline myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	5059667	\N	\N	EFO	7	EFO	skeletal system disease	Intermediate nemaline myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	5059668	\N	\N	EFO	7	EFO	genetic disorder	Intermediate nemaline myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	3184643	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Intermediate nemaline myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	5876851	\N	\N	EFO	8	EFO	disease	Intermediate nemaline myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	5876852	\N	\N	EFO	8	EFO	disease	Intermediate nemaline myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	6470058	\N	\N	EFO	9	EFO	disposition	Intermediate nemaline myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	6848329	\N	\N	EFO	10	EFO	material property	Intermediate nemaline myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171433	"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." []	7068389	\N	\N	EFO	11	EFO	experimental factor	Intermediate nemaline myopathy
Orphanet:171436	\N	\N	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	73990	\N	\N	EFO	0	EFO	Typical nemaline myopathy	Typical nemaline myopathy
Orphanet:209059	Orphanet:171436	\N	"" []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	215634	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of alpha-actin	Typical nemaline myopathy
Orphanet:209182	Orphanet:171436	\N	"" []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	215635	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of nebulin	Typical nemaline myopathy
Orphanet:284790	Orphanet:171436	\N	"" []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	215636	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of tropomyosin	Typical nemaline myopathy
Orphanet:607	Orphanet:171436	\N	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	215637	\N	\N	EFO	1	EFO	Nemaline myopathy	Typical nemaline myopathy
Orphanet:207049	Orphanet:209059	\N	"" []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	569853	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Typical nemaline myopathy
Orphanet:207049	Orphanet:209182	\N	"" []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	569854	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Typical nemaline myopathy
Orphanet:207049	Orphanet:284790	\N	"" []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	569855	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Typical nemaline myopathy
Orphanet:97245	Orphanet:607	\N	"" []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	569856	\N	\N	EFO	2	EFO	Congenital myopathy	Typical nemaline myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	1151729	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Typical nemaline myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	1151730	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Typical nemaline myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	4392302	\N	\N	EFO	6	EFO	muscular disease	Typical nemaline myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	4392303	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Typical nemaline myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	2034150	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Typical nemaline myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	5059669	\N	\N	EFO	7	EFO	skeletal system disease	Typical nemaline myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	5059670	\N	\N	EFO	7	EFO	genetic disorder	Typical nemaline myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	3184646	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Typical nemaline myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	5876853	\N	\N	EFO	8	EFO	disease	Typical nemaline myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	5876854	\N	\N	EFO	8	EFO	disease	Typical nemaline myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	6470059	\N	\N	EFO	9	EFO	disposition	Typical nemaline myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	6848330	\N	\N	EFO	10	EFO	material property	Typical nemaline myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171436	"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." []	7068390	\N	\N	EFO	11	EFO	experimental factor	Typical nemaline myopathy
Orphanet:171439	\N	\N	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	73991	\N	\N	EFO	0	EFO	Childhood-onset nemaline myopathy	Childhood-onset nemaline myopathy
Orphanet:209059	Orphanet:171439	\N	"" []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	215638	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of alpha-actin	Childhood-onset nemaline myopathy
Orphanet:209182	Orphanet:171439	\N	"" []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	215639	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of nebulin	Childhood-onset nemaline myopathy
Orphanet:284790	Orphanet:171439	\N	"" []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	215640	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of tropomyosin	Childhood-onset nemaline myopathy
Orphanet:607	Orphanet:171439	\N	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	215641	\N	\N	EFO	1	EFO	Nemaline myopathy	Childhood-onset nemaline myopathy
Orphanet:207049	Orphanet:209059	\N	"" []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	569857	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Childhood-onset nemaline myopathy
Orphanet:207049	Orphanet:209182	\N	"" []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	569858	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Childhood-onset nemaline myopathy
Orphanet:207049	Orphanet:284790	\N	"" []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	569859	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Childhood-onset nemaline myopathy
Orphanet:97245	Orphanet:607	\N	"" []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	569860	\N	\N	EFO	2	EFO	Congenital myopathy	Childhood-onset nemaline myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	1151731	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Childhood-onset nemaline myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	1151732	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Childhood-onset nemaline myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	4392306	\N	\N	EFO	6	EFO	muscular disease	Childhood-onset nemaline myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	4392307	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Childhood-onset nemaline myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	2034153	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Childhood-onset nemaline myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	5059671	\N	\N	EFO	7	EFO	skeletal system disease	Childhood-onset nemaline myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	5059672	\N	\N	EFO	7	EFO	genetic disorder	Childhood-onset nemaline myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	3184649	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Childhood-onset nemaline myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	5876855	\N	\N	EFO	8	EFO	disease	Childhood-onset nemaline myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	5876856	\N	\N	EFO	8	EFO	disease	Childhood-onset nemaline myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	6470060	\N	\N	EFO	9	EFO	disposition	Childhood-onset nemaline myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	6848331	\N	\N	EFO	10	EFO	material property	Childhood-onset nemaline myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171439	"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." []	7068391	\N	\N	EFO	11	EFO	experimental factor	Childhood-onset nemaline myopathy
Orphanet:171442	\N	\N	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	73992	\N	\N	EFO	0	EFO	Adult-onset nemaline myopathy	Adult-onset nemaline myopathy
Orphanet:209059	Orphanet:171442	\N	"" []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	215642	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of alpha-actin	Adult-onset nemaline myopathy
Orphanet:209182	Orphanet:171442	\N	"" []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	215643	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of nebulin	Adult-onset nemaline myopathy
Orphanet:607	Orphanet:171442	\N	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	215644	\N	\N	EFO	1	EFO	Nemaline myopathy	Adult-onset nemaline myopathy
Orphanet:207049	Orphanet:209059	\N	"" []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	569861	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Adult-onset nemaline myopathy
Orphanet:207049	Orphanet:209182	\N	"" []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	569862	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Adult-onset nemaline myopathy
Orphanet:97245	Orphanet:607	\N	"" []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	569863	\N	\N	EFO	2	EFO	Congenital myopathy	Adult-onset nemaline myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	1151733	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Adult-onset nemaline myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	1151734	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Adult-onset nemaline myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	4392310	\N	\N	EFO	6	EFO	muscular disease	Adult-onset nemaline myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	4392311	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Adult-onset nemaline myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	2034156	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Adult-onset nemaline myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	5059673	\N	\N	EFO	7	EFO	skeletal system disease	Adult-onset nemaline myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	5059674	\N	\N	EFO	7	EFO	genetic disorder	Adult-onset nemaline myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	3184652	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Adult-onset nemaline myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	5876857	\N	\N	EFO	8	EFO	disease	Adult-onset nemaline myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	5876858	\N	\N	EFO	8	EFO	disease	Adult-onset nemaline myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	6470061	\N	\N	EFO	9	EFO	disposition	Adult-onset nemaline myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	6848332	\N	\N	EFO	10	EFO	material property	Adult-onset nemaline myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171442	"Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." []	7068392	\N	\N	EFO	11	EFO	experimental factor	Adult-onset nemaline myopathy
Orphanet:171445	\N	\N	"" []	Orphanet:171445	"" []	73993	\N	\N	EFO	0	EFO	Muscle filaminopathy	Muscle filaminopathy
Orphanet:209047	Orphanet:171445	\N	"" []	Orphanet:171445	"" []	215645	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of filamin C	Muscle filaminopathy
Orphanet:593	Orphanet:171445	\N	"" []	Orphanet:171445	"" []	215646	\N	\N	EFO	1	EFO	Myofibrillar myopathy	Muscle filaminopathy
Orphanet:209038	Orphanet:209047	\N	"" []	Orphanet:171445	"" []	569864	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of myofibrillar proteins	Muscle filaminopathy
Orphanet:206656	Orphanet:593	\N	"" []	Orphanet:171445	"" []	569865	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Muscle filaminopathy
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:171445	"" []	1151735	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Muscle filaminopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:171445	"" []	1151736	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Muscle filaminopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:171445	"" []	2034157	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Muscle filaminopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:171445	"" []	2034158	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Muscle filaminopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:171445	"" []	3184653	\N	\N	EFO	5	EFO	muscular disease	Muscle filaminopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:171445	"" []	3184654	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Muscle filaminopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:171445	"" []	4392312	\N	\N	EFO	6	EFO	skeletal system disease	Muscle filaminopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171445	"" []	4392313	\N	\N	EFO	6	EFO	genetic disorder	Muscle filaminopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171445	"" []	5411143	\N	\N	EFO	7	EFO	disease	Muscle filaminopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171445	"" []	5411144	\N	\N	EFO	7	EFO	disease	Muscle filaminopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171445	"" []	6148578	\N	\N	EFO	8	EFO	disposition	Muscle filaminopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171445	"" []	6632286	\N	\N	EFO	9	EFO	material property	Muscle filaminopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171445	"" []	6925468	\N	\N	EFO	10	EFO	experimental factor	Muscle filaminopathy
Orphanet:1715	\N	\N	"" []	Orphanet:1715	"" []	73994	\N	\N	EFO	0	EFO	Trisomy 18p	Trisomy 18p
Orphanet:262812	Orphanet:1715	\N	"" []	Orphanet:1715	"" []	215647	\N	\N	EFO	1	EFO	Partial trisomy/tetrasomy of the short arm of chromosome 18	Trisomy 18p
Orphanet:262682	Orphanet:262812	\N	"" []	Orphanet:1715	"" []	569866	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of chromosome 18	Trisomy 18p
Orphanet:98132	Orphanet:262682	\N	"" []	Orphanet:1715	"" []	1151737	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Trisomy 18p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1715	"" []	2034159	\N	\N	EFO	4	EFO	Autosomal trisomy	Trisomy 18p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1715	"" []	3184655	\N	\N	EFO	5	EFO	Autosomal anomaly	Trisomy 18p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1715	"" []	4392314	\N	\N	EFO	6	EFO	Chromosomal anomaly	Trisomy 18p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1715	"" []	5411145	\N	\N	EFO	7	EFO	genetic disorder	Trisomy 18p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1715	"" []	6148579	\N	\N	EFO	8	EFO	disease	Trisomy 18p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1715	"" []	6632287	\N	\N	EFO	9	EFO	disposition	Trisomy 18p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1715	"" []	6925469	\N	\N	EFO	10	EFO	material property	Trisomy 18p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1715	"" []	7099029	\N	\N	EFO	11	EFO	experimental factor	Trisomy 18p
Orphanet:1716	\N	\N	"" []	Orphanet:1716	"" []	73995	\N	\N	EFO	0	EFO	Distal trisomy 18q	Distal trisomy 18q
Orphanet:262977	Orphanet:1716	\N	"" []	Orphanet:1716	"" []	215648	\N	\N	EFO	1	EFO	Partial trisomy of the long arm of chromosome 18	Distal trisomy 18q
Orphanet:262682	Orphanet:262977	\N	"" []	Orphanet:1716	"" []	569867	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of chromosome 18	Distal trisomy 18q
Orphanet:98132	Orphanet:262682	\N	"" []	Orphanet:1716	"" []	1151738	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 18q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1716	"" []	2034160	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 18q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1716	"" []	3184656	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 18q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1716	"" []	4392315	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 18q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1716	"" []	5411146	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 18q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1716	"" []	6148580	\N	\N	EFO	8	EFO	disease	Distal trisomy 18q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1716	"" []	6632288	\N	\N	EFO	9	EFO	disposition	Distal trisomy 18q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1716	"" []	6925470	\N	\N	EFO	10	EFO	material property	Distal trisomy 18q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1716	"" []	7099030	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 18q
Orphanet:171607	\N	\N	"" []	Orphanet:171607	"" []	73996	\N	\N	EFO	0	EFO	X-linked spastic paraplegia type 34	X-linked spastic paraplegia type 34
Orphanet:320332	Orphanet:171607	\N	"" []	Orphanet:171607	"" []	215649	\N	\N	EFO	1	EFO	X-linked pure spastic paraplegia	X-linked spastic paraplegia type 34
Orphanet:102012	Orphanet:320332	\N	"" []	Orphanet:171607	"" []	569868	\N	\N	EFO	2	EFO	Pure hereditary spastic paraplegia	X-linked spastic paraplegia type 34
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:171607	"" []	1151739	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	X-linked spastic paraplegia type 34
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:171607	"" []	2034161	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	X-linked spastic paraplegia type 34
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:171607	"" []	3184657	\N	\N	EFO	5	EFO	neurodegenerative disease	X-linked spastic paraplegia type 34
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:171607	"" []	3184658	\N	\N	EFO	5	EFO	brain disease	X-linked spastic paraplegia type 34
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:171607	"" []	3184659	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked spastic paraplegia type 34
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171607	"" []	4392316	\N	\N	EFO	6	EFO	nervous system disease	X-linked spastic paraplegia type 34
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171607	"" []	4392317	\N	\N	EFO	6	EFO	nervous system disease	X-linked spastic paraplegia type 34
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171607	"" []	4392318	\N	\N	EFO	6	EFO	genetic disorder	X-linked spastic paraplegia type 34
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171607	"" []	5411147	\N	\N	EFO	7	EFO	disease	X-linked spastic paraplegia type 34
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171607	"" []	5411148	\N	\N	EFO	7	EFO	disease	X-linked spastic paraplegia type 34
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171607	"" []	6148581	\N	\N	EFO	8	EFO	disposition	X-linked spastic paraplegia type 34
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171607	"" []	6632289	\N	\N	EFO	9	EFO	material property	X-linked spastic paraplegia type 34
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171607	"" []	6925471	\N	\N	EFO	10	EFO	experimental factor	X-linked spastic paraplegia type 34
Orphanet:171612	\N	\N	"" []	Orphanet:171612	"" []	73997	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 37	Autosomal dominant spastic paraplegia type 37
Orphanet:100980	Orphanet:171612	\N	"" []	Orphanet:171612	"" []	215650	\N	\N	EFO	1	EFO	Autosomal dominant pure spastic paraplegia	Autosomal dominant spastic paraplegia type 37
Orphanet:102012	Orphanet:100980	\N	"" []	Orphanet:171612	"" []	569869	\N	\N	EFO	2	EFO	Pure hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 37
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:171612	"" []	1151740	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 37
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:171612	"" []	2034162	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 37
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:171612	"" []	3184660	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 37
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:171612	"" []	3184661	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 37
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:171612	"" []	3184662	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 37
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171612	"" []	4392319	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 37
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171612	"" []	4392320	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 37
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171612	"" []	4392321	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 37
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171612	"" []	5411149	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 37
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171612	"" []	5411150	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 37
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171612	"" []	6148582	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 37
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171612	"" []	6632290	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 37
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171612	"" []	6925472	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 37
Orphanet:171617	\N	\N	"" []	Orphanet:171617	"" []	73998	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 38	Autosomal dominant spastic paraplegia type 38
Orphanet:100979	Orphanet:171617	\N	"" []	Orphanet:171617	"" []	215651	\N	\N	EFO	1	EFO	Autosomal dominant complex spastic paraplegia	Autosomal dominant spastic paraplegia type 38
Orphanet:102013	Orphanet:100979	\N	"" []	Orphanet:171617	"" []	569870	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 38
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:171617	"" []	1151741	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 38
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:171617	"" []	2034163	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 38
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:171617	"" []	3184663	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 38
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:171617	"" []	3184664	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 38
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:171617	"" []	3184665	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 38
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171617	"" []	4392322	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 38
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171617	"" []	4392323	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 38
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171617	"" []	4392324	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 38
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171617	"" []	5411151	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 38
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171617	"" []	5411152	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 38
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171617	"" []	6148583	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 38
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171617	"" []	6632291	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 38
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171617	"" []	6925473	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 38
Orphanet:171622	\N	\N	"" []	Orphanet:171622	"" []	73999	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 32	Autosomal recessive spastic paraplegia type 32
Orphanet:100981	Orphanet:171622	\N	"" []	Orphanet:171622	"" []	215652	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 32
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:171622	"" []	569871	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 32
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:171622	"" []	1151742	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 32
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:171622	"" []	2034164	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 32
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:171622	"" []	3184666	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 32
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:171622	"" []	3184667	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 32
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:171622	"" []	3184668	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 32
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171622	"" []	4392325	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 32
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171622	"" []	4392326	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 32
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171622	"" []	4392327	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 32
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171622	"" []	5411153	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 32
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171622	"" []	5411154	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 32
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171622	"" []	6148584	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 32
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171622	"" []	6632292	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 32
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171622	"" []	6925474	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 32
Orphanet:171629	\N	\N	"" []	Orphanet:171629	"" []	74000	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 35	Autosomal recessive spastic paraplegia type 35
Orphanet:320346	Orphanet:171629	\N	"" []	Orphanet:171629	"" []	215653	\N	\N	EFO	1	EFO	Pure or complex autosomal recessive spastic paraplegia	Autosomal recessive spastic paraplegia type 35
Orphanet:320335	Orphanet:320346	\N	"" []	Orphanet:171629	"" []	569872	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 35
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:171629	"" []	1151743	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 35
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:171629	"" []	2034165	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 35
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:171629	"" []	3184669	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 35
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:171629	"" []	3184670	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 35
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:171629	"" []	3184671	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 35
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171629	"" []	4392328	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 35
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171629	"" []	4392329	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 35
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171629	"" []	4392330	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 35
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171629	"" []	5411155	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 35
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171629	"" []	5411156	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 35
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171629	"" []	6148585	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 35
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171629	"" []	6632293	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 35
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171629	"" []	6925475	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 35
Orphanet:171680	\N	\N	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	74001	\N	\N	EFO	0	EFO	Lissencephaly due to TUBA1A mutation	Lissencephaly due to TUBA1A mutation
Orphanet:48471	Orphanet:171680	\N	"" []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	215654	\N	\N	EFO	1	EFO	Lissencephaly	Lissencephaly due to TUBA1A mutation
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	569873	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Lissencephaly due to TUBA1A mutation
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	569874	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly due to TUBA1A mutation
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	569875	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly due to TUBA1A mutation
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	1151744	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Lissencephaly due to TUBA1A mutation
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	1151745	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Lissencephaly due to TUBA1A mutation
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	1151746	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Lissencephaly due to TUBA1A mutation
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	2034166	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lissencephaly due to TUBA1A mutation
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	2034167	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lissencephaly due to TUBA1A mutation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	2034168	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly due to TUBA1A mutation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	2034169	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lissencephaly due to TUBA1A mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	3184672	\N	\N	EFO	5	EFO	genetic disorder	Lissencephaly due to TUBA1A mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	3184673	\N	\N	EFO	5	EFO	genetic disorder	Lissencephaly due to TUBA1A mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	4392331	\N	\N	EFO	6	EFO	disease	Lissencephaly due to TUBA1A mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	5411157	\N	\N	EFO	7	EFO	disposition	Lissencephaly due to TUBA1A mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	6148586	\N	\N	EFO	8	EFO	material property	Lissencephaly due to TUBA1A mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171680	"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." []	6632294	\N	\N	EFO	9	EFO	experimental factor	Lissencephaly due to TUBA1A mutation
Orphanet:171690	\N	\N	"" []	Orphanet:171690	"" []	74002	\N	\N	EFO	0	EFO	Metabolic myopathy due to lactate transporter defect	Metabolic myopathy due to lactate transporter defect
Orphanet:98486	Orphanet:171690	\N	"" []	Orphanet:171690	"" []	215655	\N	\N	EFO	1	EFO	Metabolic myopathy	Metabolic myopathy due to lactate transporter defect
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:171690	"" []	569876	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Metabolic myopathy due to lactate transporter defect
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:171690	"" []	1151747	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Metabolic myopathy due to lactate transporter defect
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:171690	"" []	2034170	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Metabolic myopathy due to lactate transporter defect
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:171690	"" []	3184674	\N	\N	EFO	5	EFO	muscular disease	Metabolic myopathy due to lactate transporter defect
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:171690	"" []	3184675	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Metabolic myopathy due to lactate transporter defect
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:171690	"" []	4392332	\N	\N	EFO	6	EFO	skeletal system disease	Metabolic myopathy due to lactate transporter defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171690	"" []	4392333	\N	\N	EFO	6	EFO	genetic disorder	Metabolic myopathy due to lactate transporter defect
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171690	"" []	5411158	\N	\N	EFO	7	EFO	disease	Metabolic myopathy due to lactate transporter defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171690	"" []	5411159	\N	\N	EFO	7	EFO	disease	Metabolic myopathy due to lactate transporter defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171690	"" []	6148587	\N	\N	EFO	8	EFO	disposition	Metabolic myopathy due to lactate transporter defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171690	"" []	6632295	\N	\N	EFO	9	EFO	material property	Metabolic myopathy due to lactate transporter defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171690	"" []	6925476	\N	\N	EFO	10	EFO	experimental factor	Metabolic myopathy due to lactate transporter defect
Orphanet:171695	\N	\N	"" []	Orphanet:171695	"" []	74003	\N	\N	EFO	0	EFO	Parkinsonian-pyramidal syndrome	Parkinsonian-pyramidal syndrome
Orphanet:307055	Orphanet:171695	\N	"" []	Orphanet:171695	"" []	215656	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Parkinsonian-pyramidal syndrome
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:171695	"" []	569877	\N	\N	EFO	2	EFO	neurodegenerative disease	Parkinsonian-pyramidal syndrome
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:171695	"" []	569878	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Parkinsonian-pyramidal syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171695	"" []	1151748	\N	\N	EFO	3	EFO	nervous system disease	Parkinsonian-pyramidal syndrome
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:171695	"" []	1151749	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Parkinsonian-pyramidal syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171695	"" []	4392335	\N	\N	EFO	6	EFO	disease	Parkinsonian-pyramidal syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:171695	"" []	2034172	\N	\N	EFO	4	EFO	movement disorder	Parkinsonian-pyramidal syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:171695	"" []	2034173	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Parkinsonian-pyramidal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171695	"" []	5059675	\N	\N	EFO	7	EFO	disposition	Parkinsonian-pyramidal syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171695	"" []	3184677	\N	\N	EFO	5	EFO	nervous system disease	Parkinsonian-pyramidal syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171695	"" []	3184678	\N	\N	EFO	5	EFO	genetic disorder	Parkinsonian-pyramidal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171695	"" []	5876859	\N	\N	EFO	8	EFO	material property	Parkinsonian-pyramidal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171695	"" []	4392336	\N	\N	EFO	6	EFO	disease	Parkinsonian-pyramidal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171695	"" []	6470062	\N	\N	EFO	9	EFO	experimental factor	Parkinsonian-pyramidal syndrome
Orphanet:1717	\N	\N	"" []	Orphanet:1717	"" []	74004	\N	\N	EFO	0	EFO	Distal trisomy 19q	Distal trisomy 19q
Orphanet:262986	Orphanet:1717	\N	"" []	Orphanet:1717	"" []	215657	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 19	Distal trisomy 19q
Orphanet:262687	Orphanet:262986	\N	"" []	Orphanet:1717	"" []	569879	\N	\N	EFO	2	EFO	Partial duplication of chromosome 19	Distal trisomy 19q
Orphanet:98132	Orphanet:262687	\N	"" []	Orphanet:1717	"" []	1151750	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 19q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1717	"" []	2034174	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 19q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1717	"" []	3184679	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 19q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1717	"" []	4392337	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 19q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1717	"" []	5411161	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 19q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1717	"" []	6148588	\N	\N	EFO	8	EFO	disease	Distal trisomy 19q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1717	"" []	6632296	\N	\N	EFO	9	EFO	disposition	Distal trisomy 19q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1717	"" []	6925477	\N	\N	EFO	10	EFO	material property	Distal trisomy 19q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1717	"" []	7099031	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 19q
Orphanet:171703	\N	\N	"" []	Orphanet:171703	"" []	74005	\N	\N	EFO	0	EFO	Microcephaly - polymicrogyria - corpus callosum agenesis	Microcephaly - polymicrogyria - corpus callosum agenesis
Orphanet:183763	Orphanet:171703	\N	"" []	Orphanet:171703	"" []	215658	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephaly - polymicrogyria - corpus callosum agenesis
Orphanet:269573	Orphanet:171703	\N	"" []	Orphanet:171703	"" []	215659	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Microcephaly - polymicrogyria - corpus callosum agenesis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:171703	"" []	569880	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microcephaly - polymicrogyria - corpus callosum agenesis
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:171703	"" []	569881	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephaly - polymicrogyria - corpus callosum agenesis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:171703	"" []	1151751	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephaly - polymicrogyria - corpus callosum agenesis
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:171703	"" []	1151752	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microcephaly - polymicrogyria - corpus callosum agenesis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171703	"" []	3184682	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - polymicrogyria - corpus callosum agenesis
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:171703	"" []	2034176	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - polymicrogyria - corpus callosum agenesis
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:171703	"" []	2034177	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephaly - polymicrogyria - corpus callosum agenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171703	"" []	4133383	\N	\N	EFO	6	EFO	disease	Microcephaly - polymicrogyria - corpus callosum agenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171703	"" []	3184681	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - polymicrogyria - corpus callosum agenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171703	"" []	5181745	\N	\N	EFO	7	EFO	disposition	Microcephaly - polymicrogyria - corpus callosum agenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171703	"" []	5997126	\N	\N	EFO	8	EFO	material property	Microcephaly - polymicrogyria - corpus callosum agenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171703	"" []	6550654	\N	\N	EFO	9	EFO	experimental factor	Microcephaly - polymicrogyria - corpus callosum agenesis
Orphanet:171706	\N	\N	"" []	Orphanet:171706	"" []	74006	\N	\N	EFO	0	EFO	Short stature-delayed bone age due to thyroid hormone metabolism deficiency	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Orphanet:226310	Orphanet:171706	\N	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	Orphanet:171706	"" []	215660	\N	\N	EFO	1	EFO	Peripheral hypothyroidism	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Orphanet:226292	Orphanet:226310	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:171706	"" []	569882	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:171706	"" []	1151753	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:171706	"" []	2034178	\N	\N	EFO	4	EFO	Rare hypothyroidism	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:171706	"" []	3184683	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:171706	"" []	4392339	\N	\N	EFO	6	EFO	thyroid disease	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:171706	"" []	4392340	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:171706	"" []	5411163	\N	\N	EFO	7	EFO	endocrine system disease	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171706	"" []	5411164	\N	\N	EFO	7	EFO	genetic disorder	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:171706	"" []	5411165	\N	\N	EFO	7	EFO	endocrine system disease	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171706	"" []	6148590	\N	\N	EFO	8	EFO	disease	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171706	"" []	6148591	\N	\N	EFO	8	EFO	disease	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171706	"" []	6632297	\N	\N	EFO	9	EFO	disposition	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171706	"" []	6925478	\N	\N	EFO	10	EFO	material property	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171706	"" []	7099032	\N	\N	EFO	11	EFO	experimental factor	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Orphanet:171709	\N	\N	"" []	Orphanet:171709	"" []	74007	\N	\N	EFO	0	EFO	Male infertility due to globozoospermia	Male infertility due to globozoospermia
EFO:0002625	Orphanet:171709	\N	"presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" []	Orphanet:171709	"" []	215661	\N	\N	EFO	1	EFO	teratozoospermia	Male infertility due to globozoospermia
Orphanet:399808	Orphanet:171709	\N	"" []	Orphanet:171709	"" []	215662	\N	\N	EFO	1	EFO	Male infertility with teratozoospermia due to single gene mutation	Male infertility due to globozoospermia
EFO:0000512	EFO:0002625	\N	"any diease of the reproductive system" []	Orphanet:171709	"" []	569883	\N	\N	EFO	2	EFO	reproductive system disease	Male infertility due to globozoospermia
Orphanet:399786	Orphanet:399808	\N	"" []	Orphanet:171709	"" []	569884	\N	\N	EFO	2	EFO	Male infertility with spermatogenesis disorder due to single gene mutation	Male infertility due to globozoospermia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171709	"" []	6632299	\N	\N	EFO	9	EFO	disease	Male infertility due to globozoospermia
Orphanet:399775	Orphanet:399786	\N	"" []	Orphanet:171709	"" []	1151755	\N	\N	EFO	3	EFO	Male infertility with spermatogenesis disorder	Male infertility due to globozoospermia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171709	"" []	6758572	\N	\N	EFO	10	EFO	disposition	Male infertility due to globozoospermia
Orphanet:399771	Orphanet:399775	\N	"" []	Orphanet:171709	"" []	2034180	\N	\N	EFO	4	EFO	Male infertility due to sperm disorder	Male infertility due to globozoospermia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171709	"" []	7008635	\N	\N	EFO	11	EFO	material property	Male infertility due to globozoospermia
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:171709	"" []	3184685	\N	\N	EFO	5	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Male infertility due to globozoospermia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171709	"" []	7167529	\N	\N	EFO	12	EFO	experimental factor	Male infertility due to globozoospermia
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:171709	"" []	4392342	\N	\N	EFO	6	EFO	Rare genetic male infertility	Male infertility due to globozoospermia
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:171709	"" []	5411166	\N	\N	EFO	7	EFO	Genetic infertility	Male infertility due to globozoospermia
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171709	"" []	6148592	\N	\N	EFO	8	EFO	genetic disorder	Male infertility due to globozoospermia
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:171709	"" []	6148593	\N	\N	EFO	8	EFO	reproductive system disease	Male infertility due to globozoospermia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171709	"" []	6632298	\N	\N	EFO	9	EFO	disease	Male infertility due to globozoospermia
Orphanet:171714	\N	\N	"" []	Orphanet:171714	"" []	74008	\N	\N	EFO	0	EFO	Amish infantile epilepsy syndrome	Amish infantile epilepsy syndrome
Orphanet:370933	Orphanet:171714	\N	"" []	Orphanet:171714	"" []	215663	\N	\N	EFO	1	EFO	ST3GAL5-CDG	Amish infantile epilepsy syndrome
Orphanet:309515	Orphanet:370933	\N	"" []	Orphanet:171714	"" []	569885	\N	\N	EFO	2	EFO	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	Amish infantile epilepsy syndrome
Orphanet:352306	Orphanet:370933	\N	"" []	Orphanet:171714	"" []	569886	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Amish infantile epilepsy syndrome
Orphanet:371064	Orphanet:370933	\N	"" []	Orphanet:171714	"" []	569887	\N	\N	EFO	2	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Amish infantile epilepsy syndrome
Orphanet:371071	Orphanet:370933	\N	"" []	Orphanet:171714	"" []	569888	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Amish infantile epilepsy syndrome
Orphanet:371200	Orphanet:370933	\N	"" []	Orphanet:171714	"" []	569889	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with skin involvement	Amish infantile epilepsy syndrome
Orphanet:137	Orphanet:309515	\N	"" []	Orphanet:171714	"" []	1151756	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Amish infantile epilepsy syndrome
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:171714	"" []	1151757	\N	\N	EFO	3	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Amish infantile epilepsy syndrome
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:171714	"" []	1151758	\N	\N	EFO	3	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Amish infantile epilepsy syndrome
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:171714	"" []	1151759	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation with neurological involvement	Amish infantile epilepsy syndrome
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:171714	"" []	1151760	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation with neurological involvement	Amish infantile epilepsy syndrome
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:171714	"" []	1151761	\N	\N	EFO	3	EFO	Metabolic disease with skin involvement	Amish infantile epilepsy syndrome
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:171714	"" []	2034181	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Amish infantile epilepsy syndrome
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:171714	"" []	2034182	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Amish infantile epilepsy syndrome
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:171714	"" []	2034183	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Amish infantile epilepsy syndrome
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:171714	"" []	2034184	\N	\N	EFO	4	EFO	Neurometabolic disease	Amish infantile epilepsy syndrome
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:171714	"" []	2034185	\N	\N	EFO	4	EFO	Rare genetic skin disease	Amish infantile epilepsy syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171714	"" []	4392345	\N	\N	EFO	6	EFO	genetic disorder	Amish infantile epilepsy syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:171714	"" []	4392346	\N	\N	EFO	6	EFO	metabolic disease	Amish infantile epilepsy syndrome
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:171714	"" []	3184688	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Amish infantile epilepsy syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:171714	"" []	3184689	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Amish infantile epilepsy syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:171714	"" []	3184690	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Amish infantile epilepsy syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171714	"" []	3184691	\N	\N	EFO	5	EFO	genetic disorder	Amish infantile epilepsy syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:171714	"" []	3184692	\N	\N	EFO	5	EFO	skin disease	Amish infantile epilepsy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171714	"" []	5997128	\N	\N	EFO	8	EFO	disease	Amish infantile epilepsy syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171714	"" []	5181747	\N	\N	EFO	7	EFO	disease	Amish infantile epilepsy syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:171714	"" []	4392347	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Amish infantile epilepsy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171714	"" []	5411168	\N	\N	EFO	7	EFO	genetic disorder	Amish infantile epilepsy syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171714	"" []	4392349	\N	\N	EFO	6	EFO	disease	Amish infantile epilepsy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171714	"" []	6470063	\N	\N	EFO	9	EFO	disposition	Amish infantile epilepsy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171714	"" []	6848333	\N	\N	EFO	10	EFO	material property	Amish infantile epilepsy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171714	"" []	7068393	\N	\N	EFO	11	EFO	experimental factor	Amish infantile epilepsy syndrome
Orphanet:171719	\N	\N	"" []	Orphanet:171719	"" []	74009	\N	\N	EFO	0	EFO	Cutis laxa-Marfanoid syndrome	Cutis laxa-Marfanoid syndrome
Orphanet:139030	Orphanet:171719	\N	"" []	Orphanet:171719	"" []	215664	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Cutis laxa-Marfanoid syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:171719	"" []	569890	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Cutis laxa-Marfanoid syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171719	"" []	1151762	\N	\N	EFO	3	EFO	genetic disorder	Cutis laxa-Marfanoid syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171719	"" []	2034186	\N	\N	EFO	4	EFO	disease	Cutis laxa-Marfanoid syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171719	"" []	3184693	\N	\N	EFO	5	EFO	disposition	Cutis laxa-Marfanoid syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171719	"" []	4392350	\N	\N	EFO	6	EFO	material property	Cutis laxa-Marfanoid syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171719	"" []	5411169	\N	\N	EFO	7	EFO	experimental factor	Cutis laxa-Marfanoid syndrome
Orphanet:171723	\N	\N	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	74010	\N	\N	EFO	0	EFO	White sponge nevus	White sponge nevus
Orphanet:183487	Orphanet:171723	\N	"" []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	215665	\N	\N	EFO	1	EFO	Genetic skin tumor	White sponge nevus
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	569891	\N	\N	EFO	2	EFO	skin neoplasm	White sponge nevus
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	569892	\N	\N	EFO	2	EFO	Rare genetic tumor	White sponge nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	1151763	\N	\N	EFO	3	EFO	neoplasm	White sponge nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	1151764	\N	\N	EFO	3	EFO	skin disease	White sponge nevus
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	1151765	\N	\N	EFO	3	EFO	genetic disorder	White sponge nevus
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	1151766	\N	\N	EFO	3	EFO	neoplasm	White sponge nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	2034187	\N	\N	EFO	4	EFO	disease	White sponge nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	2034188	\N	\N	EFO	4	EFO	disease	White sponge nevus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	2034189	\N	\N	EFO	4	EFO	disease	White sponge nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	3184694	\N	\N	EFO	5	EFO	disposition	White sponge nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	4392351	\N	\N	EFO	6	EFO	material property	White sponge nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171723	"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." []	5411170	\N	\N	EFO	7	EFO	experimental factor	White sponge nevus
Orphanet:171829	\N	\N	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	74011	\N	\N	EFO	0	EFO	6q16 deletion syndrome	6q16 deletion syndrome
Orphanet:262047	Orphanet:171829	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	215666	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 6	6q16 deletion syndrome
Orphanet:398073	Orphanet:171829	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	215667	\N	\N	EFO	1	EFO	Prader-Willi-like syndrome	6q16 deletion syndrome
Orphanet:261791	Orphanet:262047	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	569893	\N	\N	EFO	2	EFO	Partial deletion of chromosome 6	6q16 deletion syndrome
Orphanet:181387	Orphanet:398073	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	569894	\N	\N	EFO	2	EFO	Rare disorder with hypogonadotropic hypogonadism	6q16 deletion syndrome
Orphanet:240371	Orphanet:398073	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	569895	\N	\N	EFO	2	EFO	Syndromic obesity	6q16 deletion syndrome
Orphanet:330197	Orphanet:398073	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	569896	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	6q16 deletion syndrome
Orphanet:399846	Orphanet:398073	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	569897	\N	\N	EFO	2	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	6q16 deletion syndrome
Orphanet:98142	Orphanet:261791	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	1151767	\N	\N	EFO	3	EFO	Partial autosomal monosomy	6q16 deletion syndrome
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	1151768	\N	\N	EFO	3	EFO	Congenital hypogonadotropic hypogonadism	6q16 deletion syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	1151769	\N	\N	EFO	3	EFO	Genetic obesity	6q16 deletion syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	1151770	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	6q16 deletion syndrome
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	1151771	\N	\N	EFO	3	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	6q16 deletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	2034190	\N	\N	EFO	4	EFO	Autosomal monosomy	6q16 deletion syndrome
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	2034191	\N	\N	EFO	4	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	6q16 deletion syndrome
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	2034192	\N	\N	EFO	4	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	6q16 deletion syndrome
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	2034193	\N	\N	EFO	4	EFO	Non-acquired pituitary hormone deficiency	6q16 deletion syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	2034194	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	6q16 deletion syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	2034195	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	6q16 deletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	2034196	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	6q16 deletion syndrome
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	2034197	\N	\N	EFO	4	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	6q16 deletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	3184695	\N	\N	EFO	5	EFO	Autosomal anomaly	6q16 deletion syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	3184696	\N	\N	EFO	5	EFO	Rare genetic gynecological and obstetrical diseases	6q16 deletion syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	3184697	\N	\N	EFO	5	EFO	Rare genetic male infertility	6q16 deletion syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	3184698	\N	\N	EFO	5	EFO	Pituitary deficiency	6q16 deletion syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	6148597	\N	\N	EFO	8	EFO	genetic disorder	6q16 deletion syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	6148598	\N	\N	EFO	8	EFO	endocrine system disease	6q16 deletion syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	3184701	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	6q16 deletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	4392359	\N	\N	EFO	6	EFO	genetic disorder	6q16 deletion syndrome
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	3184703	\N	\N	EFO	5	EFO	Rare genetic female infertility	6q16 deletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	4392352	\N	\N	EFO	6	EFO	Chromosomal anomaly	6q16 deletion syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	4392353	\N	\N	EFO	6	EFO	genetic disorder	6q16 deletion syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	4392354	\N	\N	EFO	6	EFO	reproductive system disease	6q16 deletion syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	4392355	\N	\N	EFO	6	EFO	Genetic infertility	6q16 deletion syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	4392356	\N	\N	EFO	6	EFO	Rare genetic hypothalamic or pituitary disease	6q16 deletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	6409876	\N	\N	EFO	9	EFO	disease	6q16 deletion syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	6409877	\N	\N	EFO	9	EFO	disease	6q16 deletion syndrome
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	4392360	\N	\N	EFO	6	EFO	Genetic infertility	6q16 deletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	5411171	\N	\N	EFO	7	EFO	genetic disorder	6q16 deletion syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	6148596	\N	\N	EFO	8	EFO	disease	6q16 deletion syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	5411173	\N	\N	EFO	7	EFO	genetic disorder	6q16 deletion syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	5411174	\N	\N	EFO	7	EFO	reproductive system disease	6q16 deletion syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	5411175	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	6q16 deletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	6807726	\N	\N	EFO	10	EFO	disposition	6q16 deletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	7048564	\N	\N	EFO	11	EFO	material property	6q16 deletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171829	"Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." []	7190189	\N	\N	EFO	12	EFO	experimental factor	6q16 deletion syndrome
Orphanet:171836	\N	\N	"This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption." []	Orphanet:171836	"This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption." []	74012	\N	\N	EFO	0	EFO	Amelogenesis imperfecta and gingival hyperplasia syndrome	Amelogenesis imperfecta and gingival hyperplasia syndrome
Orphanet:164001	Orphanet:171836	\N	"" []	Orphanet:171836	"This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption." []	215668	\N	\N	EFO	1	EFO	Rare odontal or periodontal disorder	Amelogenesis imperfecta and gingival hyperplasia syndrome
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:171836	"This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption." []	569898	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Amelogenesis imperfecta and gingival hyperplasia syndrome
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171836	"This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption." []	1151772	\N	\N	EFO	3	EFO	genetic disorder	Amelogenesis imperfecta and gingival hyperplasia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171836	"This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption." []	2034198	\N	\N	EFO	4	EFO	disease	Amelogenesis imperfecta and gingival hyperplasia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171836	"This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption." []	3184704	\N	\N	EFO	5	EFO	disposition	Amelogenesis imperfecta and gingival hyperplasia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171836	"This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption." []	4392361	\N	\N	EFO	6	EFO	material property	Amelogenesis imperfecta and gingival hyperplasia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171836	"This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption." []	5411177	\N	\N	EFO	7	EFO	experimental factor	Amelogenesis imperfecta and gingival hyperplasia syndrome
Orphanet:171839	\N	\N	"" []	Orphanet:171839	"" []	74013	\N	\N	EFO	0	EFO	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
Orphanet:139393	Orphanet:171839	\N	"" []	Orphanet:171839	"" []	215669	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:171839	"" []	569899	\N	\N	EFO	2	EFO	Craniosynostosis	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:171839	"" []	1151773	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:171839	"" []	1151774	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:171839	"" []	2034199	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:171839	"" []	2034200	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:171839	"" []	2034201	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171839	"" []	4392364	\N	\N	EFO	6	EFO	genetic disorder	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171839	"" []	3184706	\N	\N	EFO	5	EFO	genetic disorder	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:171839	"" []	3184707	\N	\N	EFO	5	EFO	bone disease	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:171839	"" []	3184708	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171839	"" []	5181749	\N	\N	EFO	7	EFO	disease	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:171839	"" []	4392363	\N	\N	EFO	6	EFO	skeletal system disease	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171839	"" []	5997130	\N	\N	EFO	8	EFO	disposition	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171839	"" []	5411179	\N	\N	EFO	7	EFO	disease	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171839	"" []	6550657	\N	\N	EFO	9	EFO	material property	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171839	"" []	6889072	\N	\N	EFO	10	EFO	experimental factor	Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
Orphanet:171844	\N	\N	"" []	Orphanet:171844	"" []	74014	\N	\N	EFO	0	EFO	Blindness-scoliosis-arachnodactyly syndrome	Blindness-scoliosis-arachnodactyly syndrome
Orphanet:101435	Orphanet:171844	\N	"" []	Orphanet:171844	"" []	215670	\N	\N	EFO	1	EFO	Rare genetic eye disease	Blindness-scoliosis-arachnodactyly syndrome
Orphanet:139030	Orphanet:171844	\N	"" []	Orphanet:171844	"" []	215671	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Blindness-scoliosis-arachnodactyly syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171844	"" []	569900	\N	\N	EFO	2	EFO	genetic disorder	Blindness-scoliosis-arachnodactyly syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:171844	"" []	569901	\N	\N	EFO	2	EFO	eye disease	Blindness-scoliosis-arachnodactyly syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:171844	"" []	569902	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Blindness-scoliosis-arachnodactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171844	"" []	2034203	\N	\N	EFO	4	EFO	disease	Blindness-scoliosis-arachnodactyly syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171844	"" []	1151776	\N	\N	EFO	3	EFO	disease	Blindness-scoliosis-arachnodactyly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171844	"" []	1151777	\N	\N	EFO	3	EFO	genetic disorder	Blindness-scoliosis-arachnodactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171844	"" []	3000157	\N	\N	EFO	5	EFO	disposition	Blindness-scoliosis-arachnodactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171844	"" []	4133384	\N	\N	EFO	6	EFO	material property	Blindness-scoliosis-arachnodactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171844	"" []	5181750	\N	\N	EFO	7	EFO	experimental factor	Blindness-scoliosis-arachnodactyly syndrome
Orphanet:171848	\N	\N	"" []	Orphanet:171848	"" []	74015	\N	\N	EFO	0	EFO	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:207015	Orphanet:171848	\N	"" []	Orphanet:171848	"" []	215672	\N	\N	EFO	1	EFO	Rare hereditary disease with peripheral neuropathy	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:352309	Orphanet:171848	\N	"" []	Orphanet:171848	"" []	215673	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:90642	Orphanet:171848	\N	"" []	Orphanet:171848	"" []	215674	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:98661	Orphanet:171848	\N	"" []	Orphanet:171848	"" []	215675	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:171848	"" []	569903	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:352301	Orphanet:352309	\N	"" []	Orphanet:171848	"" []	569904	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:171848	"" []	569905	\N	\N	EFO	2	EFO	Rare genetic deafness	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:171848	"" []	569906	\N	\N	EFO	2	EFO	Retinal dystrophy	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:171848	"" []	1151778	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:171848	"" []	1151779	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171848	"" []	1151780	\N	\N	EFO	3	EFO	genetic disorder	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:171848	"" []	1151781	\N	\N	EFO	3	EFO	auditory system disease	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:171848	"" []	1151782	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171848	"" []	2034204	\N	\N	EFO	4	EFO	genetic disorder	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:171848	"" []	2034205	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171848	"" []	4392366	\N	\N	EFO	6	EFO	disease	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:171848	"" []	2034207	\N	\N	EFO	4	EFO	sensory system disease	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:171848	"" []	2034208	\N	\N	EFO	4	EFO	Rare genetic eye disease	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171848	"" []	3184711	\N	\N	EFO	5	EFO	genetic disorder	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:171848	"" []	3184712	\N	\N	EFO	5	EFO	metabolic disease	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171848	"" []	5059676	\N	\N	EFO	7	EFO	disposition	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171848	"" []	3184714	\N	\N	EFO	5	EFO	nervous system disease	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171848	"" []	3184715	\N	\N	EFO	5	EFO	genetic disorder	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:171848	"" []	3184716	\N	\N	EFO	5	EFO	eye disease	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171848	"" []	4392367	\N	\N	EFO	6	EFO	disease	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171848	"" []	5876860	\N	\N	EFO	8	EFO	material property	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171848	"" []	4392369	\N	\N	EFO	6	EFO	disease	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171848	"" []	4392370	\N	\N	EFO	6	EFO	disease	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171848	"" []	6470065	\N	\N	EFO	9	EFO	experimental factor	Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Orphanet:171851	\N	\N	"" []	Orphanet:171851	"" []	74016	\N	\N	EFO	0	EFO	MEDNIK syndrome	MEDNIK syndrome
Orphanet:183438	Orphanet:171851	\N	"" []	Orphanet:171851	"" []	215676	\N	\N	EFO	1	EFO	Genetic erythrokeratoderma	MEDNIK syndrome
Orphanet:183763	Orphanet:171851	\N	"" []	Orphanet:171851	"" []	215677	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	MEDNIK syndrome
Orphanet:281238	Orphanet:171851	\N	"" []	Orphanet:171851	"" []	215678	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with prominent neurologics signs	MEDNIK syndrome
Orphanet:309839	Orphanet:171851	\N	"" []	Orphanet:171851	"" []	215679	\N	\N	EFO	1	EFO	Disorder of copper metabolism	MEDNIK syndrome
Orphanet:90642	Orphanet:171851	\N	"" []	Orphanet:171851	"" []	215680	\N	\N	EFO	1	EFO	Syndromic genetic deafness	MEDNIK syndrome
Orphanet:183426	Orphanet:183438	\N	"" []	Orphanet:171851	"" []	569907	\N	\N	EFO	2	EFO	Genetic epidermal disorder	MEDNIK syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:171851	"" []	569908	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	MEDNIK syndrome
Orphanet:281217	Orphanet:281238	\N	"" []	Orphanet:171851	"" []	569909	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	MEDNIK syndrome
Orphanet:309836	Orphanet:309839	\N	"" []	Orphanet:171851	"" []	569910	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	MEDNIK syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:171851	"" []	569911	\N	\N	EFO	2	EFO	Rare genetic deafness	MEDNIK syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:171851	"" []	4392371	\N	\N	EFO	6	EFO	Rare genetic skin disease	MEDNIK syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:171851	"" []	1151784	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	MEDNIK syndrome
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:171851	"" []	1151785	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	MEDNIK syndrome
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:171851	"" []	1151786	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	MEDNIK syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171851	"" []	1151787	\N	\N	EFO	3	EFO	genetic disorder	MEDNIK syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:171851	"" []	1151788	\N	\N	EFO	3	EFO	auditory system disease	MEDNIK syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171851	"" []	5028395	\N	\N	EFO	7	EFO	genetic disorder	MEDNIK syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:171851	"" []	5028396	\N	\N	EFO	7	EFO	skin disease	MEDNIK syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171851	"" []	2034211	\N	\N	EFO	4	EFO	genetic disorder	MEDNIK syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:171851	"" []	2034212	\N	\N	EFO	4	EFO	Inherited ichthyosis	MEDNIK syndrome
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:171851	"" []	2034213	\N	\N	EFO	4	EFO	Inborn errors of metabolism	MEDNIK syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171851	"" []	5817510	\N	\N	EFO	8	EFO	disease	MEDNIK syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:171851	"" []	2034215	\N	\N	EFO	4	EFO	sensory system disease	MEDNIK syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171851	"" []	5817511	\N	\N	EFO	8	EFO	disease	MEDNIK syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:171851	"" []	3184719	\N	\N	EFO	5	EFO	Genetic epidermal disorder	MEDNIK syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171851	"" []	3184720	\N	\N	EFO	5	EFO	genetic disorder	MEDNIK syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:171851	"" []	3184721	\N	\N	EFO	5	EFO	metabolic disease	MEDNIK syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171851	"" []	6378821	\N	\N	EFO	9	EFO	disposition	MEDNIK syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171851	"" []	3184723	\N	\N	EFO	5	EFO	nervous system disease	MEDNIK syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171851	"" []	4392373	\N	\N	EFO	6	EFO	disease	MEDNIK syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171851	"" []	6778616	\N	\N	EFO	10	EFO	material property	MEDNIK syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171851	"" []	4392375	\N	\N	EFO	6	EFO	disease	MEDNIK syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171851	"" []	7029831	\N	\N	EFO	11	EFO	experimental factor	MEDNIK syndrome
Orphanet:171860	\N	\N	"" []	Orphanet:171860	"" []	74017	\N	\N	EFO	0	EFO	Intellectual disability - cataracts - kyphosis	Intellectual disability - cataracts - kyphosis
Orphanet:183763	Orphanet:171860	\N	"" []	Orphanet:171860	"" []	215681	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - cataracts - kyphosis
Orphanet:98641	Orphanet:171860	\N	"" []	Orphanet:171860	"" []	215682	\N	\N	EFO	1	EFO	Syndromic cataract	Intellectual disability - cataracts - kyphosis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:171860	"" []	569912	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - cataracts - kyphosis
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:171860	"" []	569913	\N	\N	EFO	2	EFO	Rare cataract	Intellectual disability - cataracts - kyphosis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:171860	"" []	1151789	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - cataracts - kyphosis
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:171860	"" []	1151790	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Intellectual disability - cataracts - kyphosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171860	"" []	2034216	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - cataracts - kyphosis
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:171860	"" []	2034217	\N	\N	EFO	4	EFO	Rare genetic eye disease	Intellectual disability - cataracts - kyphosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171860	"" []	4392377	\N	\N	EFO	6	EFO	disease	Intellectual disability - cataracts - kyphosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171860	"" []	3184725	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability - cataracts - kyphosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:171860	"" []	3184726	\N	\N	EFO	5	EFO	eye disease	Intellectual disability - cataracts - kyphosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171860	"" []	5181753	\N	\N	EFO	7	EFO	disposition	Intellectual disability - cataracts - kyphosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171860	"" []	4392378	\N	\N	EFO	6	EFO	disease	Intellectual disability - cataracts - kyphosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171860	"" []	5997133	\N	\N	EFO	8	EFO	material property	Intellectual disability - cataracts - kyphosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171860	"" []	6550658	\N	\N	EFO	9	EFO	experimental factor	Intellectual disability - cataracts - kyphosis
Orphanet:171863	\N	\N	"" []	Orphanet:171863	"" []	74018	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 42	Autosomal dominant spastic paraplegia type 42
Orphanet:100980	Orphanet:171863	\N	"" []	Orphanet:171863	"" []	215683	\N	\N	EFO	1	EFO	Autosomal dominant pure spastic paraplegia	Autosomal dominant spastic paraplegia type 42
Orphanet:102012	Orphanet:100980	\N	"" []	Orphanet:171863	"" []	569914	\N	\N	EFO	2	EFO	Pure hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 42
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:171863	"" []	1151791	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 42
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:171863	"" []	2034218	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 42
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:171863	"" []	3184727	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 42
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:171863	"" []	3184728	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 42
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:171863	"" []	3184729	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 42
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171863	"" []	4392379	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 42
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:171863	"" []	4392380	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 42
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171863	"" []	4392381	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 42
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171863	"" []	5411183	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 42
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171863	"" []	5411184	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 42
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171863	"" []	6148602	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 42
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171863	"" []	6632303	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 42
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171863	"" []	6925479	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 42
Orphanet:171866	\N	\N	"" []	Orphanet:171866	"" []	74019	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia, aggrecan type	Spondyloepimetaphyseal dysplasia, aggrecan type
Orphanet:253	Orphanet:171866	\N	"" []	Orphanet:171866	"" []	215684	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia, aggrecan type
Orphanet:364817	Orphanet:171866	\N	"" []	Orphanet:171866	"" []	215685	\N	\N	EFO	1	EFO	Aggrecan-related bone disorder	Spondyloepimetaphyseal dysplasia, aggrecan type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:171866	"" []	569915	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia, aggrecan type
Orphanet:364803	Orphanet:364817	\N	"" []	Orphanet:171866	"" []	569916	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Spondyloepimetaphyseal dysplasia, aggrecan type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:171866	"" []	1151792	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia, aggrecan type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:171866	"" []	1151793	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia, aggrecan type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:171866	"" []	1151794	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia, aggrecan type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171866	"" []	2034219	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, aggrecan type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:171866	"" []	2034220	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia, aggrecan type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:171866	"" []	2034221	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia, aggrecan type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171866	"" []	4392384	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, aggrecan type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:171866	"" []	3184731	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia, aggrecan type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171866	"" []	3184732	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, aggrecan type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171866	"" []	5181754	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia, aggrecan type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171866	"" []	4392383	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, aggrecan type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171866	"" []	5997134	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia, aggrecan type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171866	"" []	6550659	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia, aggrecan type
Orphanet:171871	\N	\N	"" []	Orphanet:171871	"" []	74020	\N	\N	EFO	0	EFO	Renal pseudohypoaldosteronism type 1	Renal pseudohypoaldosteronism type 1
Orphanet:756	Orphanet:171871	\N	"Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." []	Orphanet:171871	"" []	215686	\N	\N	EFO	1	EFO	Pseudohypoaldosteronism type 1	Renal pseudohypoaldosteronism type 1
Orphanet:183592	Orphanet:756	\N	"" []	Orphanet:171871	"" []	569917	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Renal pseudohypoaldosteronism type 1
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:171871	"" []	1151795	\N	\N	EFO	3	EFO	Rare genetic renal disease	Renal pseudohypoaldosteronism type 1
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171871	"" []	2034222	\N	\N	EFO	4	EFO	genetic disorder	Renal pseudohypoaldosteronism type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171871	"" []	3184733	\N	\N	EFO	5	EFO	disease	Renal pseudohypoaldosteronism type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171871	"" []	4392385	\N	\N	EFO	6	EFO	disposition	Renal pseudohypoaldosteronism type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171871	"" []	5411186	\N	\N	EFO	7	EFO	material property	Renal pseudohypoaldosteronism type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171871	"" []	6148604	\N	\N	EFO	8	EFO	experimental factor	Renal pseudohypoaldosteronism type 1
Orphanet:171876	\N	\N	"" []	Orphanet:171876	"" []	74021	\N	\N	EFO	0	EFO	Generalized pseudohypoaldosteronism type 1	Generalized pseudohypoaldosteronism type 1
Orphanet:756	Orphanet:171876	\N	"Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." []	Orphanet:171876	"" []	215687	\N	\N	EFO	1	EFO	Pseudohypoaldosteronism type 1	Generalized pseudohypoaldosteronism type 1
Orphanet:183592	Orphanet:756	\N	"" []	Orphanet:171876	"" []	569918	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Generalized pseudohypoaldosteronism type 1
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:171876	"" []	1151796	\N	\N	EFO	3	EFO	Rare genetic renal disease	Generalized pseudohypoaldosteronism type 1
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171876	"" []	2034223	\N	\N	EFO	4	EFO	genetic disorder	Generalized pseudohypoaldosteronism type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171876	"" []	3184734	\N	\N	EFO	5	EFO	disease	Generalized pseudohypoaldosteronism type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171876	"" []	4392386	\N	\N	EFO	6	EFO	disposition	Generalized pseudohypoaldosteronism type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171876	"" []	5411187	\N	\N	EFO	7	EFO	material property	Generalized pseudohypoaldosteronism type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171876	"" []	6148605	\N	\N	EFO	8	EFO	experimental factor	Generalized pseudohypoaldosteronism type 1
Orphanet:171881	\N	\N	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	74022	\N	\N	EFO	0	EFO	Cap myopathy	Cap myopathy
Orphanet:284790	Orphanet:171881	\N	"" []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	215688	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of tropomyosin	Cap myopathy
Orphanet:97245	Orphanet:171881	\N	"" []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	215689	\N	\N	EFO	1	EFO	Congenital myopathy	Cap myopathy
Orphanet:207049	Orphanet:284790	\N	"" []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	569919	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Cap myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	569920	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Cap myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	1151797	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Cap myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	1151798	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Cap myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	3184737	\N	\N	EFO	5	EFO	muscular disease	Cap myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	3184738	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Cap myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	2034226	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Cap myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	4133387	\N	\N	EFO	6	EFO	skeletal system disease	Cap myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	4133388	\N	\N	EFO	6	EFO	genetic disorder	Cap myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	5181755	\N	\N	EFO	7	EFO	disease	Cap myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	5181756	\N	\N	EFO	7	EFO	disease	Cap myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	5997135	\N	\N	EFO	8	EFO	disposition	Cap myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	6550660	\N	\N	EFO	9	EFO	material property	Cap myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171881	"Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." []	6889073	\N	\N	EFO	10	EFO	experimental factor	Cap myopathy
Orphanet:171886	\N	\N	"" []	Orphanet:171886	"" []	74023	\N	\N	EFO	0	EFO	Cylindrical spirals myopathy	Cylindrical spirals myopathy
Orphanet:97245	Orphanet:171886	\N	"" []	Orphanet:171886	"" []	215690	\N	\N	EFO	1	EFO	Congenital myopathy	Cylindrical spirals myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:171886	"" []	569921	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Cylindrical spirals myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:171886	"" []	1151799	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Cylindrical spirals myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:171886	"" []	2034227	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Cylindrical spirals myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:171886	"" []	3184739	\N	\N	EFO	5	EFO	muscular disease	Cylindrical spirals myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:171886	"" []	3184740	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Cylindrical spirals myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:171886	"" []	4392389	\N	\N	EFO	6	EFO	skeletal system disease	Cylindrical spirals myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171886	"" []	4392390	\N	\N	EFO	6	EFO	genetic disorder	Cylindrical spirals myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171886	"" []	5411189	\N	\N	EFO	7	EFO	disease	Cylindrical spirals myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171886	"" []	5411190	\N	\N	EFO	7	EFO	disease	Cylindrical spirals myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171886	"" []	6148607	\N	\N	EFO	8	EFO	disposition	Cylindrical spirals myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171886	"" []	6632305	\N	\N	EFO	9	EFO	material property	Cylindrical spirals myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171886	"" []	6925480	\N	\N	EFO	10	EFO	experimental factor	Cylindrical spirals myopathy
Orphanet:171889	\N	\N	"" []	Orphanet:171889	"" []	74024	\N	\N	EFO	0	EFO	Myopathy with hexagonally cross-linked tubular arrays	Myopathy with hexagonally cross-linked tubular arrays
Orphanet:97245	Orphanet:171889	\N	"" []	Orphanet:171889	"" []	215691	\N	\N	EFO	1	EFO	Congenital myopathy	Myopathy with hexagonally cross-linked tubular arrays
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:171889	"" []	569922	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Myopathy with hexagonally cross-linked tubular arrays
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:171889	"" []	1151800	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Myopathy with hexagonally cross-linked tubular arrays
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:171889	"" []	2034228	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Myopathy with hexagonally cross-linked tubular arrays
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:171889	"" []	3184741	\N	\N	EFO	5	EFO	muscular disease	Myopathy with hexagonally cross-linked tubular arrays
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:171889	"" []	3184742	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Myopathy with hexagonally cross-linked tubular arrays
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:171889	"" []	4392391	\N	\N	EFO	6	EFO	skeletal system disease	Myopathy with hexagonally cross-linked tubular arrays
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171889	"" []	4392392	\N	\N	EFO	6	EFO	genetic disorder	Myopathy with hexagonally cross-linked tubular arrays
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171889	"" []	5411191	\N	\N	EFO	7	EFO	disease	Myopathy with hexagonally cross-linked tubular arrays
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171889	"" []	5411192	\N	\N	EFO	7	EFO	disease	Myopathy with hexagonally cross-linked tubular arrays
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171889	"" []	6148608	\N	\N	EFO	8	EFO	disposition	Myopathy with hexagonally cross-linked tubular arrays
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171889	"" []	6632306	\N	\N	EFO	9	EFO	material property	Myopathy with hexagonally cross-linked tubular arrays
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171889	"" []	6925481	\N	\N	EFO	10	EFO	experimental factor	Myopathy with hexagonally cross-linked tubular arrays
Orphanet:171929	\N	\N	"" []	Orphanet:171929	"" []	74025	\N	\N	EFO	0	EFO	Trisomy 10p	Trisomy 10p
Orphanet:262776	Orphanet:171929	\N	"" []	Orphanet:171929	"" []	215692	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 10	Trisomy 10p
Orphanet:262648	Orphanet:262776	\N	"" []	Orphanet:171929	"" []	569923	\N	\N	EFO	2	EFO	Partial duplication of chromosome 10	Trisomy 10p
Orphanet:98132	Orphanet:262648	\N	"" []	Orphanet:171929	"" []	1151801	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Trisomy 10p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:171929	"" []	2034229	\N	\N	EFO	4	EFO	Autosomal trisomy	Trisomy 10p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:171929	"" []	3184743	\N	\N	EFO	5	EFO	Autosomal anomaly	Trisomy 10p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:171929	"" []	4392393	\N	\N	EFO	6	EFO	Chromosomal anomaly	Trisomy 10p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:171929	"" []	5411193	\N	\N	EFO	7	EFO	genetic disorder	Trisomy 10p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:171929	"" []	6148609	\N	\N	EFO	8	EFO	disease	Trisomy 10p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:171929	"" []	6632307	\N	\N	EFO	9	EFO	disposition	Trisomy 10p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:171929	"" []	6925482	\N	\N	EFO	10	EFO	material property	Trisomy 10p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:171929	"" []	7099033	\N	\N	EFO	11	EFO	experimental factor	Trisomy 10p
Orphanet:172	\N	\N	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	74026	\N	\N	EFO	0	EFO	Progressive familial intrahepatic cholestasis	Progressive familial intrahepatic cholestasis
Orphanet:284385	Orphanet:172	\N	"" []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	215693	\N	\N	EFO	1	EFO	Familial intrahepatic cholestasis	Progressive familial intrahepatic cholestasis
Orphanet:309816	Orphanet:172	\N	"" []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	215694	\N	\N	EFO	1	EFO	Disorder of bilirubin metabolism and excretion	Progressive familial intrahepatic cholestasis
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	569924	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Progressive familial intrahepatic cholestasis
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	569925	\N	\N	EFO	2	EFO	Disorder of porphyrin and haem metabolism	Progressive familial intrahepatic cholestasis
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	1151802	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Progressive familial intrahepatic cholestasis
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	1151803	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Progressive familial intrahepatic cholestasis
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	2034230	\N	\N	EFO	4	EFO	digestive system disease	Progressive familial intrahepatic cholestasis
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	2034231	\N	\N	EFO	4	EFO	genetic disorder	Progressive familial intrahepatic cholestasis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	2034232	\N	\N	EFO	4	EFO	genetic disorder	Progressive familial intrahepatic cholestasis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	2034233	\N	\N	EFO	4	EFO	metabolic disease	Progressive familial intrahepatic cholestasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	3184744	\N	\N	EFO	5	EFO	disease	Progressive familial intrahepatic cholestasis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	3184745	\N	\N	EFO	5	EFO	disease	Progressive familial intrahepatic cholestasis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	3184746	\N	\N	EFO	5	EFO	disease	Progressive familial intrahepatic cholestasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	4392394	\N	\N	EFO	6	EFO	disposition	Progressive familial intrahepatic cholestasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	5411194	\N	\N	EFO	7	EFO	material property	Progressive familial intrahepatic cholestasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:172	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	6148610	\N	\N	EFO	8	EFO	experimental factor	Progressive familial intrahepatic cholestasis
Orphanet:1723	\N	\N	"" []	Orphanet:1723	"" []	74027	\N	\N	EFO	0	EFO	Mosaic trisomy 2	Mosaic trisomy 2
Orphanet:98131	Orphanet:1723	\N	"" []	Orphanet:1723	"" []	215695	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 2
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:1723	"" []	569926	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 2
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1723	"" []	1151804	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 2
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1723	"" []	2034234	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 2
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1723	"" []	3184747	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1723	"" []	4392395	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1723	"" []	5411195	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1723	"" []	6148611	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1723	"" []	6632308	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 2
Orphanet:1724	\N	\N	"" []	Orphanet:1724	"" []	74028	\N	\N	EFO	0	EFO	Mosaic trisomy 20	Mosaic trisomy 20
Orphanet:98131	Orphanet:1724	\N	"" []	Orphanet:1724	"" []	215696	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 20
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:1724	"" []	569927	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 20
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1724	"" []	1151805	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 20
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1724	"" []	2034235	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 20
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1724	"" []	3184748	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 20
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1724	"" []	4392396	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 20
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1724	"" []	5411196	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 20
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1724	"" []	6148612	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 20
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1724	"" []	6632309	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 20
Orphanet:1727	\N	\N	"The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." []	Orphanet:1727	"The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." []	74029	\N	\N	EFO	0	EFO	22q11.2 microduplication syndrome	22q11.2 microduplication syndrome
Orphanet:263004	Orphanet:1727	\N	"" []	Orphanet:1727	"The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." []	215697	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 22	22q11.2 microduplication syndrome
Orphanet:98132	Orphanet:263004	\N	"" []	Orphanet:1727	"The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." []	569928	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	22q11.2 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1727	"The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." []	1151806	\N	\N	EFO	3	EFO	Autosomal trisomy	22q11.2 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1727	"The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." []	2034236	\N	\N	EFO	4	EFO	Autosomal anomaly	22q11.2 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1727	"The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." []	3184749	\N	\N	EFO	5	EFO	Chromosomal anomaly	22q11.2 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1727	"The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." []	4392397	\N	\N	EFO	6	EFO	genetic disorder	22q11.2 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1727	"The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." []	5411197	\N	\N	EFO	7	EFO	disease	22q11.2 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1727	"The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." []	6148613	\N	\N	EFO	8	EFO	disposition	22q11.2 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1727	"The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." []	6632310	\N	\N	EFO	9	EFO	material property	22q11.2 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1727	"The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." []	6925483	\N	\N	EFO	10	EFO	experimental factor	22q11.2 microduplication syndrome
Orphanet:172976	\N	\N	"" []	Orphanet:172976	"" []	74030	\N	\N	EFO	0	EFO	Congenital myopathy with cores	Congenital myopathy with cores
Orphanet:97245	Orphanet:172976	\N	"" []	Orphanet:172976	"" []	215698	\N	\N	EFO	1	EFO	Congenital myopathy	Congenital myopathy with cores
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:172976	"" []	569929	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Congenital myopathy with cores
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:172976	"" []	1151807	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital myopathy with cores
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:172976	"" []	2034237	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital myopathy with cores
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:172976	"" []	3184750	\N	\N	EFO	5	EFO	muscular disease	Congenital myopathy with cores
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:172976	"" []	3184751	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital myopathy with cores
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:172976	"" []	4392398	\N	\N	EFO	6	EFO	skeletal system disease	Congenital myopathy with cores
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:172976	"" []	4392399	\N	\N	EFO	6	EFO	genetic disorder	Congenital myopathy with cores
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:172976	"" []	5411198	\N	\N	EFO	7	EFO	disease	Congenital myopathy with cores
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:172976	"" []	5411199	\N	\N	EFO	7	EFO	disease	Congenital myopathy with cores
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:172976	"" []	6148614	\N	\N	EFO	8	EFO	disposition	Congenital myopathy with cores
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:172976	"" []	6632311	\N	\N	EFO	9	EFO	material property	Congenital myopathy with cores
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:172976	"" []	6925484	\N	\N	EFO	10	EFO	experimental factor	Congenital myopathy with cores
Orphanet:1738	\N	\N	"" []	Orphanet:1738	"" []	74031	\N	\N	EFO	0	EFO	Trisomy 4p	Trisomy 4p
Orphanet:262716	Orphanet:1738	\N	"" []	Orphanet:1738	"" []	215699	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 4	Trisomy 4p
Orphanet:262206	Orphanet:262716	\N	"" []	Orphanet:1738	"" []	569930	\N	\N	EFO	2	EFO	Partial duplication of chromosome 4	Trisomy 4p
Orphanet:98132	Orphanet:262206	\N	"" []	Orphanet:1738	"" []	1151808	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Trisomy 4p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1738	"" []	2034238	\N	\N	EFO	4	EFO	Autosomal trisomy	Trisomy 4p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1738	"" []	3184752	\N	\N	EFO	5	EFO	Autosomal anomaly	Trisomy 4p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1738	"" []	4392400	\N	\N	EFO	6	EFO	Chromosomal anomaly	Trisomy 4p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1738	"" []	5411200	\N	\N	EFO	7	EFO	genetic disorder	Trisomy 4p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1738	"" []	6148615	\N	\N	EFO	8	EFO	disease	Trisomy 4p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1738	"" []	6632312	\N	\N	EFO	9	EFO	disposition	Trisomy 4p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1738	"" []	6925485	\N	\N	EFO	10	EFO	material property	Trisomy 4p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1738	"" []	7099034	\N	\N	EFO	11	EFO	experimental factor	Trisomy 4p
Orphanet:174	\N	\N	"" []	Orphanet:174	"" []	74032	\N	\N	EFO	0	EFO	Metaphyseal chondrodysplasia, Schmid type	Metaphyseal chondrodysplasia, Schmid type
Orphanet:93430	Orphanet:174	\N	"" []	Orphanet:174	"" []	215700	\N	\N	EFO	1	EFO	Multiple metaphyseal dysplasia	Metaphyseal chondrodysplasia, Schmid type
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:174	"" []	569931	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metaphyseal chondrodysplasia, Schmid type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:174	"" []	1151809	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metaphyseal chondrodysplasia, Schmid type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:174	"" []	1151810	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metaphyseal chondrodysplasia, Schmid type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:174	"" []	2034239	\N	\N	EFO	4	EFO	genetic disorder	Metaphyseal chondrodysplasia, Schmid type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:174	"" []	2034240	\N	\N	EFO	4	EFO	bone disease	Metaphyseal chondrodysplasia, Schmid type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:174	"" []	2034241	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metaphyseal chondrodysplasia, Schmid type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:174	"" []	4392403	\N	\N	EFO	6	EFO	disease	Metaphyseal chondrodysplasia, Schmid type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:174	"" []	3184754	\N	\N	EFO	5	EFO	skeletal system disease	Metaphyseal chondrodysplasia, Schmid type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:174	"" []	3184755	\N	\N	EFO	5	EFO	genetic disorder	Metaphyseal chondrodysplasia, Schmid type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:174	"" []	5181757	\N	\N	EFO	7	EFO	disposition	Metaphyseal chondrodysplasia, Schmid type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:174	"" []	4392402	\N	\N	EFO	6	EFO	disease	Metaphyseal chondrodysplasia, Schmid type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:174	"" []	5997136	\N	\N	EFO	8	EFO	material property	Metaphyseal chondrodysplasia, Schmid type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:174	"" []	6550661	\N	\N	EFO	9	EFO	experimental factor	Metaphyseal chondrodysplasia, Schmid type
Orphanet:1742	\N	\N	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	Orphanet:1742	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	74033	\N	\N	EFO	0	EFO	Trisomy 5p	Trisomy 5p
Orphanet:262725	Orphanet:1742	\N	"" []	Orphanet:1742	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	215701	\N	\N	EFO	1	EFO	Partial trisomy/tetrasomy of the short arm of chromosome 5	Trisomy 5p
Orphanet:262211	Orphanet:262725	\N	"" []	Orphanet:1742	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	569932	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of chromosome 5	Trisomy 5p
Orphanet:98132	Orphanet:262211	\N	"" []	Orphanet:1742	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	1151811	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Trisomy 5p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1742	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	2034242	\N	\N	EFO	4	EFO	Autosomal trisomy	Trisomy 5p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1742	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	3184756	\N	\N	EFO	5	EFO	Autosomal anomaly	Trisomy 5p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1742	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	4392404	\N	\N	EFO	6	EFO	Chromosomal anomaly	Trisomy 5p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1742	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	5411202	\N	\N	EFO	7	EFO	genetic disorder	Trisomy 5p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1742	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	6148617	\N	\N	EFO	8	EFO	disease	Trisomy 5p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1742	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	6632313	\N	\N	EFO	9	EFO	disposition	Trisomy 5p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1742	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	6925486	\N	\N	EFO	10	EFO	material property	Trisomy 5p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1742	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	7099035	\N	\N	EFO	11	EFO	experimental factor	Trisomy 5p
Orphanet:1745	\N	\N	"" []	Orphanet:1745	"" []	74034	\N	\N	EFO	0	EFO	Distal trisomy 6p	Distal trisomy 6p
Orphanet:262740	Orphanet:1745	\N	"" []	Orphanet:1745	"" []	215702	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 6	Distal trisomy 6p
Orphanet:262628	Orphanet:262740	\N	"" []	Orphanet:1745	"" []	569933	\N	\N	EFO	2	EFO	Partial duplication of chromosome 6	Distal trisomy 6p
Orphanet:98132	Orphanet:262628	\N	"" []	Orphanet:1745	"" []	1151812	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 6p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1745	"" []	2034243	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 6p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1745	"" []	3184757	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 6p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1745	"" []	4392405	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 6p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1745	"" []	5411203	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 6p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1745	"" []	6148618	\N	\N	EFO	8	EFO	disease	Distal trisomy 6p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1745	"" []	6632314	\N	\N	EFO	9	EFO	disposition	Distal trisomy 6p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1745	"" []	6925487	\N	\N	EFO	10	EFO	material property	Distal trisomy 6p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1745	"" []	7099036	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 6p
Orphanet:174590	\N	\N	"" []	Orphanet:174590	"" []	74035	\N	\N	EFO	0	EFO	Congenital hypogonadotropic hypogonadism	Congenital hypogonadotropic hypogonadism
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:174590	"" []	215703	\N	\N	EFO	1	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Congenital hypogonadotropic hypogonadism
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:174590	"" []	215704	\N	\N	EFO	1	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Congenital hypogonadotropic hypogonadism
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:174590	"" []	215705	\N	\N	EFO	1	EFO	Non-acquired pituitary hormone deficiency	Congenital hypogonadotropic hypogonadism
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:174590	"" []	569934	\N	\N	EFO	2	EFO	Rare genetic gynecological and obstetrical diseases	Congenital hypogonadotropic hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:174590	"" []	569935	\N	\N	EFO	2	EFO	Rare genetic male infertility	Congenital hypogonadotropic hypogonadism
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:174590	"" []	569936	\N	\N	EFO	2	EFO	Pituitary deficiency	Congenital hypogonadotropic hypogonadism
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:174590	"" []	1151813	\N	\N	EFO	3	EFO	genetic disorder	Congenital hypogonadotropic hypogonadism
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:174590	"" []	1151814	\N	\N	EFO	3	EFO	reproductive system disease	Congenital hypogonadotropic hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:174590	"" []	1151815	\N	\N	EFO	3	EFO	Genetic infertility	Congenital hypogonadotropic hypogonadism
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:174590	"" []	1151816	\N	\N	EFO	3	EFO	Rare genetic hypothalamic or pituitary disease	Congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:174590	"" []	4392407	\N	\N	EFO	6	EFO	disease	Congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:174590	"" []	3184760	\N	\N	EFO	5	EFO	disease	Congenital hypogonadotropic hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:174590	"" []	2034246	\N	\N	EFO	4	EFO	genetic disorder	Congenital hypogonadotropic hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:174590	"" []	2034247	\N	\N	EFO	4	EFO	reproductive system disease	Congenital hypogonadotropic hypogonadism
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:174590	"" []	2034248	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Congenital hypogonadotropic hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:174590	"" []	5059678	\N	\N	EFO	7	EFO	disposition	Congenital hypogonadotropic hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:174590	"" []	3184761	\N	\N	EFO	5	EFO	genetic disorder	Congenital hypogonadotropic hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:174590	"" []	3184762	\N	\N	EFO	5	EFO	endocrine system disease	Congenital hypogonadotropic hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:174590	"" []	5876862	\N	\N	EFO	8	EFO	material property	Congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:174590	"" []	4392408	\N	\N	EFO	6	EFO	disease	Congenital hypogonadotropic hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:174590	"" []	6470067	\N	\N	EFO	9	EFO	experimental factor	Congenital hypogonadotropic hypogonadism
Orphanet:1747	\N	\N	"" []	Orphanet:1747	"" []	74036	\N	\N	EFO	0	EFO	Mosaic trisomy 7	Mosaic trisomy 7
Orphanet:98131	Orphanet:1747	\N	"" []	Orphanet:1747	"" []	215706	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 7
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:1747	"" []	569937	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 7
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1747	"" []	1151817	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 7
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1747	"" []	2034249	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 7
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1747	"" []	3184763	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1747	"" []	4392409	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1747	"" []	5411205	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1747	"" []	6148619	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1747	"" []	6632315	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 7
Orphanet:175	\N	\N	"" []	Orphanet:175	"" []	74037	\N	\N	EFO	0	EFO	Cartilage-hair hypoplasia	Cartilage-hair hypoplasia
Orphanet:169349	Orphanet:175	\N	"" []	Orphanet:175	"" []	215707	\N	\N	EFO	1	EFO	Immuno-osseous dysplasia	Cartilage-hair hypoplasia
Orphanet:79373	Orphanet:175	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:175	"" []	215708	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Cartilage-hair hypoplasia
Orphanet:93430	Orphanet:175	\N	"" []	Orphanet:175	"" []	215709	\N	\N	EFO	1	EFO	Multiple metaphyseal dysplasia	Cartilage-hair hypoplasia
Orphanet:331217	Orphanet:169349	\N	"" []	Orphanet:175	"" []	569938	\N	\N	EFO	2	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Cartilage-hair hypoplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:175	"" []	569939	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Cartilage-hair hypoplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:175	"" []	569940	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Cartilage-hair hypoplasia
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:175	"" []	569941	\N	\N	EFO	2	EFO	Primary bone dysplasia	Cartilage-hair hypoplasia
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:175	"" []	1151818	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Cartilage-hair hypoplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:175	"" []	1151819	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cartilage-hair hypoplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:175	"" []	1151820	\N	\N	EFO	3	EFO	Rare genetic skin disease	Cartilage-hair hypoplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:175	"" []	1151821	\N	\N	EFO	3	EFO	Rare genetic bone disease	Cartilage-hair hypoplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:175	"" []	1151822	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Cartilage-hair hypoplasia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:175	"" []	2034250	\N	\N	EFO	4	EFO	Primary immunodeficiency	Cartilage-hair hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:175	"" []	3184768	\N	\N	EFO	5	EFO	genetic disorder	Cartilage-hair hypoplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:175	"" []	2034252	\N	\N	EFO	4	EFO	genetic disorder	Cartilage-hair hypoplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:175	"" []	2034253	\N	\N	EFO	4	EFO	skin disease	Cartilage-hair hypoplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:175	"" []	2034254	\N	\N	EFO	4	EFO	genetic disorder	Cartilage-hair hypoplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:175	"" []	2034255	\N	\N	EFO	4	EFO	bone disease	Cartilage-hair hypoplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:175	"" []	2034256	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cartilage-hair hypoplasia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:175	"" []	3184764	\N	\N	EFO	5	EFO	Rare genetic immune disease	Cartilage-hair hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:175	"" []	5411206	\N	\N	EFO	7	EFO	disease	Cartilage-hair hypoplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:175	"" []	3184766	\N	\N	EFO	5	EFO	disease	Cartilage-hair hypoplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:175	"" []	3184767	\N	\N	EFO	5	EFO	skeletal system disease	Cartilage-hair hypoplasia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:175	"" []	4392410	\N	\N	EFO	6	EFO	genetic disorder	Cartilage-hair hypoplasia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:175	"" []	4392411	\N	\N	EFO	6	EFO	immune system disease	Cartilage-hair hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:175	"" []	5876863	\N	\N	EFO	8	EFO	disposition	Cartilage-hair hypoplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:175	"" []	4392413	\N	\N	EFO	6	EFO	disease	Cartilage-hair hypoplasia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:175	"" []	5411207	\N	\N	EFO	7	EFO	disease	Cartilage-hair hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:175	"" []	6470068	\N	\N	EFO	9	EFO	material property	Cartilage-hair hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:175	"" []	6848335	\N	\N	EFO	10	EFO	experimental factor	Cartilage-hair hypoplasia
Orphanet:1752	\N	\N	"" []	Orphanet:1752	"" []	74038	\N	\N	EFO	0	EFO	Trisomy 8q	Trisomy 8q
Orphanet:262896	Orphanet:1752	\N	"" []	Orphanet:1752	"" []	215710	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 8	Trisomy 8q
Orphanet:262638	Orphanet:262896	\N	"" []	Orphanet:1752	"" []	569942	\N	\N	EFO	2	EFO	Partial duplication of chromosome 8	Trisomy 8q
Orphanet:98132	Orphanet:262638	\N	"" []	Orphanet:1752	"" []	1151823	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Trisomy 8q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:1752	"" []	2034257	\N	\N	EFO	4	EFO	Autosomal trisomy	Trisomy 8q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:1752	"" []	3184769	\N	\N	EFO	5	EFO	Autosomal anomaly	Trisomy 8q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:1752	"" []	4392414	\N	\N	EFO	6	EFO	Chromosomal anomaly	Trisomy 8q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1752	"" []	5411209	\N	\N	EFO	7	EFO	genetic disorder	Trisomy 8q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1752	"" []	6148621	\N	\N	EFO	8	EFO	disease	Trisomy 8q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1752	"" []	6632316	\N	\N	EFO	9	EFO	disposition	Trisomy 8q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1752	"" []	6925488	\N	\N	EFO	10	EFO	material property	Trisomy 8q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1752	"" []	7099037	\N	\N	EFO	11	EFO	experimental factor	Trisomy 8q
Orphanet:1756	\N	\N	"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." []	Orphanet:1756	"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." []	74039	\N	\N	EFO	0	EFO	Caudal duplication	Caudal duplication
Orphanet:117573	Orphanet:1756	\N	"" []	Orphanet:1756	"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." []	215711	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Caudal duplication
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:1756	"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." []	569943	\N	\N	EFO	2	EFO	Anorectal malformation	Caudal duplication
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:1756	"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." []	1151824	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Caudal duplication
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1756	"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." []	2034258	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Caudal duplication
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1756	"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." []	3184770	\N	\N	EFO	5	EFO	genetic disorder	Caudal duplication
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1756	"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." []	4392415	\N	\N	EFO	6	EFO	disease	Caudal duplication
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1756	"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." []	5411210	\N	\N	EFO	7	EFO	disposition	Caudal duplication
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1756	"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." []	6148622	\N	\N	EFO	8	EFO	material property	Caudal duplication
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1756	"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." []	6632317	\N	\N	EFO	9	EFO	experimental factor	Caudal duplication
Orphanet:1757	\N	\N	"" []	Orphanet:1757	"" []	74040	\N	\N	EFO	0	EFO	Fibular dimelia - diplopodia	Fibular dimelia - diplopodia
Orphanet:294959	Orphanet:1757	\N	"" []	Orphanet:1757	"" []	215712	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Fibular dimelia - diplopodia
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:1757	"" []	569944	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Fibular dimelia - diplopodia
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:1757	"" []	569945	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Fibular dimelia - diplopodia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1757	"" []	1151825	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Fibular dimelia - diplopodia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1757	"" []	1151826	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Fibular dimelia - diplopodia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1757	"" []	2034259	\N	\N	EFO	4	EFO	Rare genetic bone disease	Fibular dimelia - diplopodia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1757	"" []	2034260	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Fibular dimelia - diplopodia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1757	"" []	2034261	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Fibular dimelia - diplopodia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1757	"" []	3184771	\N	\N	EFO	5	EFO	genetic disorder	Fibular dimelia - diplopodia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1757	"" []	3184772	\N	\N	EFO	5	EFO	bone disease	Fibular dimelia - diplopodia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1757	"" []	3184773	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Fibular dimelia - diplopodia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1757	"" []	4392418	\N	\N	EFO	6	EFO	genetic disorder	Fibular dimelia - diplopodia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1757	"" []	5181760	\N	\N	EFO	7	EFO	disease	Fibular dimelia - diplopodia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1757	"" []	4392417	\N	\N	EFO	6	EFO	skeletal system disease	Fibular dimelia - diplopodia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1757	"" []	5997139	\N	\N	EFO	8	EFO	disposition	Fibular dimelia - diplopodia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1757	"" []	5411212	\N	\N	EFO	7	EFO	disease	Fibular dimelia - diplopodia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1757	"" []	6550663	\N	\N	EFO	9	EFO	material property	Fibular dimelia - diplopodia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1757	"" []	6889074	\N	\N	EFO	10	EFO	experimental factor	Fibular dimelia - diplopodia
Orphanet:1759	\N	\N	"" []	Orphanet:1759	"" []	74041	\N	\N	EFO	0	EFO	Thoraco-abdominal enteric duplication	Thoraco-abdominal enteric duplication
Orphanet:108969	Orphanet:1759	\N	"" []	Orphanet:1759	"" []	215713	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Thoraco-abdominal enteric duplication
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:1759	"" []	569946	\N	\N	EFO	2	EFO	Intestinal malformation	Thoraco-abdominal enteric duplication
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:1759	"" []	1151827	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Thoraco-abdominal enteric duplication
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1759	"" []	2034262	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Thoraco-abdominal enteric duplication
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1759	"" []	3184775	\N	\N	EFO	5	EFO	genetic disorder	Thoraco-abdominal enteric duplication
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1759	"" []	4392419	\N	\N	EFO	6	EFO	disease	Thoraco-abdominal enteric duplication
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1759	"" []	5411213	\N	\N	EFO	7	EFO	disposition	Thoraco-abdominal enteric duplication
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1759	"" []	6148624	\N	\N	EFO	8	EFO	material property	Thoraco-abdominal enteric duplication
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1759	"" []	6632319	\N	\N	EFO	9	EFO	experimental factor	Thoraco-abdominal enteric duplication
Orphanet:176	\N	\N	"" []	Orphanet:176	"" []	74042	\N	\N	EFO	0	EFO	Non-rhizomelic chondrodysplasia punctata	Non-rhizomelic chondrodysplasia punctata
Orphanet:93442	Orphanet:176	\N	"" []	Orphanet:176	"" []	215714	\N	\N	EFO	1	EFO	Chondrodysplasia punctata	Non-rhizomelic chondrodysplasia punctata
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:176	"" []	569947	\N	\N	EFO	2	EFO	Primary bone dysplasia	Non-rhizomelic chondrodysplasia punctata
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:176	"" []	1151828	\N	\N	EFO	3	EFO	Rare genetic bone disease	Non-rhizomelic chondrodysplasia punctata
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:176	"" []	1151829	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Non-rhizomelic chondrodysplasia punctata
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:176	"" []	2034263	\N	\N	EFO	4	EFO	genetic disorder	Non-rhizomelic chondrodysplasia punctata
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:176	"" []	2034264	\N	\N	EFO	4	EFO	bone disease	Non-rhizomelic chondrodysplasia punctata
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:176	"" []	2034265	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Non-rhizomelic chondrodysplasia punctata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:176	"" []	4392422	\N	\N	EFO	6	EFO	disease	Non-rhizomelic chondrodysplasia punctata
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:176	"" []	3184777	\N	\N	EFO	5	EFO	skeletal system disease	Non-rhizomelic chondrodysplasia punctata
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:176	"" []	3184778	\N	\N	EFO	5	EFO	genetic disorder	Non-rhizomelic chondrodysplasia punctata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:176	"" []	5181761	\N	\N	EFO	7	EFO	disposition	Non-rhizomelic chondrodysplasia punctata
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:176	"" []	4392421	\N	\N	EFO	6	EFO	disease	Non-rhizomelic chondrodysplasia punctata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:176	"" []	5997140	\N	\N	EFO	8	EFO	material property	Non-rhizomelic chondrodysplasia punctata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:176	"" []	6550664	\N	\N	EFO	9	EFO	experimental factor	Non-rhizomelic chondrodysplasia punctata
Orphanet:1762	\N	\N	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	74043	\N	\N	EFO	0	EFO	Trisomy Xq28	Trisomy Xq28
Orphanet:102283	Orphanet:1762	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	215715	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Trisomy Xq28
Orphanet:263783	Orphanet:1762	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	215716	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome X	Trisomy Xq28
Orphanet:98464	Orphanet:1762	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	215717	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Trisomy Xq28
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	569948	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Trisomy Xq28
Orphanet:263768	Orphanet:263783	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	569949	\N	\N	EFO	2	EFO	Partial duplication of chromosome X	Trisomy Xq28
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	569950	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Trisomy Xq28
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	1151830	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trisomy Xq28
Orphanet:98159	Orphanet:263768	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	1151831	\N	\N	EFO	3	EFO	Chromosome X structural anomaly	Trisomy Xq28
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	1151832	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Trisomy Xq28
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	2034266	\N	\N	EFO	4	EFO	genetic disorder	Trisomy Xq28
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	2034267	\N	\N	EFO	4	EFO	Gonosome structural anomaly	Trisomy Xq28
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	2034268	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Trisomy Xq28
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	6148627	\N	\N	EFO	8	EFO	disease	Trisomy Xq28
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	3184780	\N	\N	EFO	5	EFO	Gonosome anomaly	Trisomy Xq28
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	3184781	\N	\N	EFO	5	EFO	genetic disorder	Trisomy Xq28
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	6409878	\N	\N	EFO	9	EFO	disposition	Trisomy Xq28
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	4392424	\N	\N	EFO	6	EFO	Chromosomal anomaly	Trisomy Xq28
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	6807727	\N	\N	EFO	10	EFO	material property	Trisomy Xq28
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	5411216	\N	\N	EFO	7	EFO	genetic disorder	Trisomy Xq28
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1762	"Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." []	7048565	\N	\N	EFO	11	EFO	experimental factor	Trisomy Xq28
Orphanet:1764	\N	\N	"" []	Orphanet:1764	"" []	74044	\N	\N	EFO	0	EFO	Familial dysautonomia	Familial dysautonomia
Orphanet:140477	Orphanet:1764	\N	"" []	Orphanet:1764	"" []	215718	\N	\N	EFO	1	EFO	Autosomal recessive hereditary sensory and autonomic neuropathy	Familial dysautonomia
Orphanet:183472	Orphanet:1764	\N	"" []	Orphanet:1764	"" []	215719	\N	\N	EFO	1	EFO	Genetic dermis disorder	Familial dysautonomia
Orphanet:98604	Orphanet:1764	\N	"" []	Orphanet:1764	"" []	215720	\N	\N	EFO	1	EFO	Congenital alacrima	Familial dysautonomia
Orphanet:98692	Orphanet:1764	\N	"" []	Orphanet:1764	"" []	215721	\N	\N	EFO	1	EFO	Nervous system anomaly with eye involvement	Familial dysautonomia
Orphanet:140471	Orphanet:140477	\N	"" []	Orphanet:1764	"" []	569951	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Familial dysautonomia
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:1764	"" []	569952	\N	\N	EFO	2	EFO	Rare genetic skin disease	Familial dysautonomia
Orphanet:98603	Orphanet:98604	\N	"" []	Orphanet:1764	"" []	569953	\N	\N	EFO	2	EFO	Secretory apparatus of the lacrimal system anomaly	Familial dysautonomia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:1764	"" []	569954	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Familial dysautonomia
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:1764	"" []	1151833	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Familial dysautonomia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1764	"" []	1151834	\N	\N	EFO	3	EFO	genetic disorder	Familial dysautonomia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1764	"" []	1151835	\N	\N	EFO	3	EFO	skin disease	Familial dysautonomia
Orphanet:98602	Orphanet:98603	\N	"" []	Orphanet:1764	"" []	1151836	\N	\N	EFO	3	EFO	Rare lacrimal system disease	Familial dysautonomia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:1764	"" []	1151837	\N	\N	EFO	3	EFO	Rare genetic eye disease	Familial dysautonomia
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:1764	"" []	2034269	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Familial dysautonomia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1764	"" []	5059680	\N	\N	EFO	7	EFO	disease	Familial dysautonomia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1764	"" []	2034271	\N	\N	EFO	4	EFO	disease	Familial dysautonomia
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:1764	"" []	2034272	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Familial dysautonomia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1764	"" []	4392428	\N	\N	EFO	6	EFO	genetic disorder	Familial dysautonomia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1764	"" []	4392429	\N	\N	EFO	6	EFO	eye disease	Familial dysautonomia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1764	"" []	3184782	\N	\N	EFO	5	EFO	genetic disorder	Familial dysautonomia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1764	"" []	5817512	\N	\N	EFO	8	EFO	disposition	Familial dysautonomia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1764	"" []	3184784	\N	\N	EFO	5	EFO	Rare genetic eye disease	Familial dysautonomia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1764	"" []	5059681	\N	\N	EFO	7	EFO	disease	Familial dysautonomia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1764	"" []	6409879	\N	\N	EFO	9	EFO	material property	Familial dysautonomia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1764	"" []	6807728	\N	\N	EFO	10	EFO	experimental factor	Familial dysautonomia
Orphanet:1765	\N	\N	"" []	Orphanet:1765	"" []	74045	\N	\N	EFO	0	EFO	Dyschondrosteosis - nephritis	Dyschondrosteosis - nephritis
Orphanet:93438	Orphanet:1765	\N	"" []	Orphanet:1765	"" []	215722	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Dyschondrosteosis - nephritis
Orphanet:93547	Orphanet:1765	\N	"" []	Orphanet:1765	"" []	215723	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Dyschondrosteosis - nephritis
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:1765	"" []	569955	\N	\N	EFO	2	EFO	Primary bone dysplasia	Dyschondrosteosis - nephritis
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1765	"" []	569956	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Dyschondrosteosis - nephritis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1765	"" []	1151838	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dyschondrosteosis - nephritis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1765	"" []	1151839	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dyschondrosteosis - nephritis
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1765	"" []	1151840	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dyschondrosteosis - nephritis
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1765	"" []	1151841	\N	\N	EFO	3	EFO	Rare genetic renal disease	Dyschondrosteosis - nephritis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1765	"" []	2034275	\N	\N	EFO	4	EFO	genetic disorder	Dyschondrosteosis - nephritis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1765	"" []	2034276	\N	\N	EFO	4	EFO	bone disease	Dyschondrosteosis - nephritis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1765	"" []	2034277	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dyschondrosteosis - nephritis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1765	"" []	3184789	\N	\N	EFO	5	EFO	genetic disorder	Dyschondrosteosis - nephritis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1765	"" []	2034279	\N	\N	EFO	4	EFO	genetic disorder	Dyschondrosteosis - nephritis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1765	"" []	4133392	\N	\N	EFO	6	EFO	disease	Dyschondrosteosis - nephritis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1765	"" []	3184788	\N	\N	EFO	5	EFO	skeletal system disease	Dyschondrosteosis - nephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1765	"" []	5181764	\N	\N	EFO	7	EFO	disposition	Dyschondrosteosis - nephritis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1765	"" []	4392431	\N	\N	EFO	6	EFO	disease	Dyschondrosteosis - nephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1765	"" []	5997143	\N	\N	EFO	8	EFO	material property	Dyschondrosteosis - nephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1765	"" []	6550666	\N	\N	EFO	9	EFO	experimental factor	Dyschondrosteosis - nephritis
Orphanet:1766	\N	\N	"" []	Orphanet:1766	"" []	74046	\N	\N	EFO	0	EFO	Dysequilibrium syndrome	Dysequilibrium syndrome
Orphanet:98095	Orphanet:1766	\N	"" []	Orphanet:1766	"" []	215724	\N	\N	EFO	1	EFO	Autosomal recessive congenital cerebellar ataxia	Dysequilibrium syndrome
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:1766	"" []	569957	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Dysequilibrium syndrome
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:1766	"" []	1151842	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Dysequilibrium syndrome
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:1766	"" []	1151843	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Dysequilibrium syndrome
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:1766	"" []	1151844	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Dysequilibrium syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1766	"" []	2034280	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Dysequilibrium syndrome
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:1766	"" []	2034281	\N	\N	EFO	4	EFO	Ataxia with dementia	Dysequilibrium syndrome
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:1766	"" []	2034282	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Dysequilibrium syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1766	"" []	6148631	\N	\N	EFO	8	EFO	genetic disorder	Dysequilibrium syndrome
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:1766	"" []	3184791	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Dysequilibrium syndrome
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:1766	"" []	3184792	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Dysequilibrium syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1766	"" []	6409880	\N	\N	EFO	9	EFO	disease	Dysequilibrium syndrome
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:1766	"" []	4392433	\N	\N	EFO	6	EFO	Genetic dementia	Dysequilibrium syndrome
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:1766	"" []	4392434	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Dysequilibrium syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:1766	"" []	4392435	\N	\N	EFO	6	EFO	Rare genetic eye disease	Dysequilibrium syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1766	"" []	6807729	\N	\N	EFO	10	EFO	disposition	Dysequilibrium syndrome
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1766	"" []	5411220	\N	\N	EFO	7	EFO	brain disease	Dysequilibrium syndrome
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:1766	"" []	5411221	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Dysequilibrium syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1766	"" []	5411222	\N	\N	EFO	7	EFO	neurodegenerative disease	Dysequilibrium syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1766	"" []	5411223	\N	\N	EFO	7	EFO	brain disease	Dysequilibrium syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1766	"" []	5411224	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Dysequilibrium syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1766	"" []	5411225	\N	\N	EFO	7	EFO	genetic disorder	Dysequilibrium syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1766	"" []	5411226	\N	\N	EFO	7	EFO	eye disease	Dysequilibrium syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1766	"" []	7048566	\N	\N	EFO	11	EFO	material property	Dysequilibrium syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1766	"" []	6148630	\N	\N	EFO	8	EFO	nervous system disease	Dysequilibrium syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1766	"" []	6148632	\N	\N	EFO	8	EFO	nervous system disease	Dysequilibrium syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1766	"" []	6148634	\N	\N	EFO	8	EFO	disease	Dysequilibrium syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1766	"" []	7190190	\N	\N	EFO	12	EFO	experimental factor	Dysequilibrium syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1766	"" []	6632321	\N	\N	EFO	9	EFO	disease	Dysequilibrium syndrome
Orphanet:1768	\N	\N	"" []	Orphanet:1768	"" []	74047	\N	\N	EFO	0	EFO	Familial caudal dysgenesis	Familial caudal dysgenesis
Orphanet:117573	Orphanet:1768	\N	"" []	Orphanet:1768	"" []	215725	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Familial caudal dysgenesis
Orphanet:269564	Orphanet:1768	\N	"" []	Orphanet:1768	"" []	215726	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Familial caudal dysgenesis
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:1768	"" []	569958	\N	\N	EFO	2	EFO	Anorectal malformation	Familial caudal dysgenesis
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1768	"" []	569959	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Familial caudal dysgenesis
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:1768	"" []	1151845	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Familial caudal dysgenesis
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1768	"" []	1151846	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Familial caudal dysgenesis
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1768	"" []	1151847	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Familial caudal dysgenesis
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1768	"" []	2034283	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial caudal dysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1768	"" []	3184793	\N	\N	EFO	5	EFO	genetic disorder	Familial caudal dysgenesis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1768	"" []	2034285	\N	\N	EFO	4	EFO	genetic disorder	Familial caudal dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1768	"" []	4133393	\N	\N	EFO	6	EFO	disease	Familial caudal dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1768	"" []	5181765	\N	\N	EFO	7	EFO	disposition	Familial caudal dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1768	"" []	5997144	\N	\N	EFO	8	EFO	material property	Familial caudal dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1768	"" []	6550667	\N	\N	EFO	9	EFO	experimental factor	Familial caudal dysgenesis
Orphanet:177	\N	\N	"" []	Orphanet:177	"" []	74048	\N	\N	EFO	0	EFO	Rhizomelic chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata
Orphanet:68373	Orphanet:177	\N	"" []	Orphanet:177	"" []	215727	\N	\N	EFO	1	EFO	Peroxisomal disease	Rhizomelic chondrodysplasia punctata
Orphanet:68385	Orphanet:177	\N	"" []	Orphanet:177	"" []	215728	\N	\N	EFO	1	EFO	Neurometabolic disease	Rhizomelic chondrodysplasia punctata
Orphanet:93442	Orphanet:177	\N	"" []	Orphanet:177	"" []	215729	\N	\N	EFO	1	EFO	Chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata
Orphanet:98648	Orphanet:177	\N	"" []	Orphanet:177	"" []	215730	\N	\N	EFO	1	EFO	Musculoskeletal disease with cataract	Rhizomelic chondrodysplasia punctata
Orphanet:98712	Orphanet:177	\N	"" []	Orphanet:177	"" []	215731	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Rhizomelic chondrodysplasia punctata
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:177	"" []	569960	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Rhizomelic chondrodysplasia punctata
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:177	"" []	569961	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Rhizomelic chondrodysplasia punctata
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:177	"" []	569962	\N	\N	EFO	2	EFO	Primary bone dysplasia	Rhizomelic chondrodysplasia punctata
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:177	"" []	569963	\N	\N	EFO	2	EFO	Systemic disease with cataract	Rhizomelic chondrodysplasia punctata
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:177	"" []	569964	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Rhizomelic chondrodysplasia punctata
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177	"" []	1151848	\N	\N	EFO	3	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:177	"" []	1151849	\N	\N	EFO	3	EFO	metabolic disease	Rhizomelic chondrodysplasia punctata
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177	"" []	1151850	\N	\N	EFO	3	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:177	"" []	1151851	\N	\N	EFO	3	EFO	Rare genetic bone disease	Rhizomelic chondrodysplasia punctata
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:177	"" []	1151852	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Rhizomelic chondrodysplasia punctata
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:177	"" []	1151853	\N	\N	EFO	3	EFO	Syndromic cataract	Rhizomelic chondrodysplasia punctata
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:177	"" []	1151854	\N	\N	EFO	3	EFO	Rare genetic eye disease	Rhizomelic chondrodysplasia punctata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177	"" []	5817513	\N	\N	EFO	8	EFO	disease	Rhizomelic chondrodysplasia punctata
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177	"" []	2034287	\N	\N	EFO	4	EFO	disease	Rhizomelic chondrodysplasia punctata
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177	"" []	2034288	\N	\N	EFO	4	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:177	"" []	2034289	\N	\N	EFO	4	EFO	bone disease	Rhizomelic chondrodysplasia punctata
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:177	"" []	2034290	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rhizomelic chondrodysplasia punctata
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:177	"" []	2034291	\N	\N	EFO	4	EFO	Rare cataract	Rhizomelic chondrodysplasia punctata
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177	"" []	5411229	\N	\N	EFO	7	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:177	"" []	5411230	\N	\N	EFO	7	EFO	eye disease	Rhizomelic chondrodysplasia punctata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:177	"" []	6378822	\N	\N	EFO	9	EFO	disposition	Rhizomelic chondrodysplasia punctata
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:177	"" []	3184797	\N	\N	EFO	5	EFO	skeletal system disease	Rhizomelic chondrodysplasia punctata
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177	"" []	3184798	\N	\N	EFO	5	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:177	"" []	3184799	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Rhizomelic chondrodysplasia punctata
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177	"" []	5817514	\N	\N	EFO	8	EFO	disease	Rhizomelic chondrodysplasia punctata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:177	"" []	6778617	\N	\N	EFO	10	EFO	material property	Rhizomelic chondrodysplasia punctata
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177	"" []	4392438	\N	\N	EFO	6	EFO	disease	Rhizomelic chondrodysplasia punctata
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:177	"" []	4392440	\N	\N	EFO	6	EFO	Rare genetic eye disease	Rhizomelic chondrodysplasia punctata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:177	"" []	7029832	\N	\N	EFO	11	EFO	experimental factor	Rhizomelic chondrodysplasia punctata
Orphanet:1770	\N	\N	"" []	Orphanet:1770	"" []	74049	\N	\N	EFO	0	EFO	Gonadal dysgenesis, XY type - associated anomalies	Gonadal dysgenesis, XY type - associated anomalies
Orphanet:325638	Orphanet:1770	\N	"" []	Orphanet:1770	"" []	215732	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Gonadal dysgenesis, XY type - associated anomalies
Orphanet:98087	Orphanet:1770	\N	"" []	Orphanet:1770	"" []	215733	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	Gonadal dysgenesis, XY type - associated anomalies
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:1770	"" []	569965	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Gonadal dysgenesis, XY type - associated anomalies
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:1770	"" []	569966	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Gonadal dysgenesis, XY type - associated anomalies
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:1770	"" []	1151855	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Gonadal dysgenesis, XY type - associated anomalies
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:1770	"" []	1151856	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Gonadal dysgenesis, XY type - associated anomalies
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1770	"" []	2034294	\N	\N	EFO	4	EFO	genetic disorder	Gonadal dysgenesis, XY type - associated anomalies
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:1770	"" []	2034295	\N	\N	EFO	4	EFO	reproductive system disease	Gonadal dysgenesis, XY type - associated anomalies
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:1770	"" []	2034296	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Gonadal dysgenesis, XY type - associated anomalies
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:1770	"" []	2034297	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Gonadal dysgenesis, XY type - associated anomalies
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:1770	"" []	2034298	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Gonadal dysgenesis, XY type - associated anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1770	"" []	4392442	\N	\N	EFO	6	EFO	disease	Gonadal dysgenesis, XY type - associated anomalies
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1770	"" []	3184802	\N	\N	EFO	5	EFO	disease	Gonadal dysgenesis, XY type - associated anomalies
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1770	"" []	3184803	\N	\N	EFO	5	EFO	genetic disorder	Gonadal dysgenesis, XY type - associated anomalies
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1770	"" []	3184804	\N	\N	EFO	5	EFO	genetic disorder	Gonadal dysgenesis, XY type - associated anomalies
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1770	"" []	3184805	\N	\N	EFO	5	EFO	endocrine system disease	Gonadal dysgenesis, XY type - associated anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1770	"" []	3184806	\N	\N	EFO	5	EFO	genetic disorder	Gonadal dysgenesis, XY type - associated anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1770	"" []	5181767	\N	\N	EFO	7	EFO	disposition	Gonadal dysgenesis, XY type - associated anomalies
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1770	"" []	4392443	\N	\N	EFO	6	EFO	disease	Gonadal dysgenesis, XY type - associated anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1770	"" []	5997146	\N	\N	EFO	8	EFO	material property	Gonadal dysgenesis, XY type - associated anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1770	"" []	6550668	\N	\N	EFO	9	EFO	experimental factor	Gonadal dysgenesis, XY type - associated anomalies
Orphanet:177107	\N	\N	"" []	Orphanet:177107	"" []	74050	\N	\N	EFO	0	EFO	Syndromic hypothyroidism	Syndromic hypothyroidism
Orphanet:226292	Orphanet:177107	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:177107	"" []	215734	\N	\N	EFO	1	EFO	Permanent congenital hypothyroidism	Syndromic hypothyroidism
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:177107	"" []	569967	\N	\N	EFO	2	EFO	Congenital hypothyroidism	Syndromic hypothyroidism
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:177107	"" []	1151857	\N	\N	EFO	3	EFO	Rare hypothyroidism	Syndromic hypothyroidism
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:177107	"" []	2034299	\N	\N	EFO	4	EFO	Rare genetic thyroid disease	Syndromic hypothyroidism
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:177107	"" []	3184807	\N	\N	EFO	5	EFO	thyroid disease	Syndromic hypothyroidism
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:177107	"" []	3184808	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Syndromic hypothyroidism
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:177107	"" []	4392444	\N	\N	EFO	6	EFO	endocrine system disease	Syndromic hypothyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177107	"" []	4392445	\N	\N	EFO	6	EFO	genetic disorder	Syndromic hypothyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:177107	"" []	4392446	\N	\N	EFO	6	EFO	endocrine system disease	Syndromic hypothyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177107	"" []	5411232	\N	\N	EFO	7	EFO	disease	Syndromic hypothyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177107	"" []	5411233	\N	\N	EFO	7	EFO	disease	Syndromic hypothyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:177107	"" []	6148637	\N	\N	EFO	8	EFO	disposition	Syndromic hypothyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:177107	"" []	6632322	\N	\N	EFO	9	EFO	material property	Syndromic hypothyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:177107	"" []	6925489	\N	\N	EFO	10	EFO	experimental factor	Syndromic hypothyroidism
Orphanet:1772	\N	\N	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	74051	\N	\N	EFO	0	EFO	45,X/46,XY mixed gonadal dysgenesis	45,X/46,XY mixed gonadal dysgenesis
Orphanet:263746	Orphanet:1772	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	215735	\N	\N	EFO	1	EFO	Y chromosome number anomaly	45,X/46,XY mixed gonadal dysgenesis
Orphanet:325546	Orphanet:1772	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	215736	\N	\N	EFO	1	EFO	Sex chromosome disorder of sex development	45,X/46,XY mixed gonadal dysgenesis
Orphanet:98074	Orphanet:1772	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	215737	\N	\N	EFO	1	EFO	Gonadal dysgenesis of gynecological interest	45,X/46,XY mixed gonadal dysgenesis
Orphanet:98313	Orphanet:1772	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	215738	\N	\N	EFO	1	EFO	Male infertility due to gonadal dysgenesis	45,X/46,XY mixed gonadal dysgenesis
Orphanet:98156	Orphanet:263746	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	569968	\N	\N	EFO	2	EFO	Gonosome number anomaly	45,X/46,XY mixed gonadal dysgenesis
Orphanet:325690	Orphanet:325546	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	569969	\N	\N	EFO	2	EFO	Genetic disorder of sex development	45,X/46,XY mixed gonadal dysgenesis
Orphanet:325665	Orphanet:98074	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	569970	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	45,X/46,XY mixed gonadal dysgenesis
Orphanet:399764	Orphanet:98313	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	569971	\N	\N	EFO	2	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	45,X/46,XY mixed gonadal dysgenesis
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	1151858	\N	\N	EFO	3	EFO	Gonosome anomaly	45,X/46,XY mixed gonadal dysgenesis
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	1151859	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	45,X/46,XY mixed gonadal dysgenesis
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	1151860	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	45,X/46,XY mixed gonadal dysgenesis
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	1151861	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	45,X/46,XY mixed gonadal dysgenesis
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	1151862	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	45,X/46,XY mixed gonadal dysgenesis
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	1151863	\N	\N	EFO	3	EFO	Rare genetic male infertility	45,X/46,XY mixed gonadal dysgenesis
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	2034300	\N	\N	EFO	4	EFO	Chromosomal anomaly	45,X/46,XY mixed gonadal dysgenesis
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	2034301	\N	\N	EFO	4	EFO	genetic disorder	45,X/46,XY mixed gonadal dysgenesis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	2034302	\N	\N	EFO	4	EFO	genetic disorder	45,X/46,XY mixed gonadal dysgenesis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	2034303	\N	\N	EFO	4	EFO	endocrine system disease	45,X/46,XY mixed gonadal dysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	2034304	\N	\N	EFO	4	EFO	genetic disorder	45,X/46,XY mixed gonadal dysgenesis
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	2034305	\N	\N	EFO	4	EFO	genetic disorder	45,X/46,XY mixed gonadal dysgenesis
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	2034306	\N	\N	EFO	4	EFO	reproductive system disease	45,X/46,XY mixed gonadal dysgenesis
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	2034307	\N	\N	EFO	4	EFO	Genetic infertility	45,X/46,XY mixed gonadal dysgenesis
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	3184809	\N	\N	EFO	5	EFO	genetic disorder	45,X/46,XY mixed gonadal dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	4392447	\N	\N	EFO	6	EFO	disease	45,X/46,XY mixed gonadal dysgenesis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	3184811	\N	\N	EFO	5	EFO	disease	45,X/46,XY mixed gonadal dysgenesis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	4392449	\N	\N	EFO	6	EFO	disease	45,X/46,XY mixed gonadal dysgenesis
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	3184813	\N	\N	EFO	5	EFO	genetic disorder	45,X/46,XY mixed gonadal dysgenesis
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	3184814	\N	\N	EFO	5	EFO	reproductive system disease	45,X/46,XY mixed gonadal dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	5181768	\N	\N	EFO	7	EFO	disposition	45,X/46,XY mixed gonadal dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	5997147	\N	\N	EFO	8	EFO	material property	45,X/46,XY mixed gonadal dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1772	"45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." []	6550669	\N	\N	EFO	9	EFO	experimental factor	45,X/46,XY mixed gonadal dysgenesis
Orphanet:1775	\N	\N	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	74052	\N	\N	EFO	0	EFO	Dyskeratosis congenita	Dyskeratosis congenita
Orphanet:140162	Orphanet:1775	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	215739	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Dyskeratosis congenita
Orphanet:183466	Orphanet:1775	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	215740	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Dyskeratosis congenita
Orphanet:222628	Orphanet:1775	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	215741	\N	\N	EFO	1	EFO	Hereditary poikiloderma	Dyskeratosis congenita
Orphanet:331217	Orphanet:1775	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	215742	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Dyskeratosis congenita
Orphanet:68383	Orphanet:1775	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	215743	\N	\N	EFO	1	EFO	Rare constitutional medullar aplasia	Dyskeratosis congenita
Orphanet:79373	Orphanet:1775	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	215744	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Dyskeratosis congenita
Orphanet:98196	Orphanet:1775	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	215745	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Dyskeratosis congenita
Orphanet:98464	Orphanet:1775	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	215746	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Dyskeratosis congenita
Orphanet:98605	Orphanet:1775	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	215747	\N	\N	EFO	1	EFO	Excretory apparatus of the lacrimal system anomaly	Dyskeratosis congenita
Orphanet:98616	Orphanet:1775	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	215748	\N	\N	EFO	1	EFO	Conjunctival tumor	Dyskeratosis congenita
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	569972	\N	\N	EFO	2	EFO	genetic disorder	Dyskeratosis congenita
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	569973	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Dyskeratosis congenita
Orphanet:183426	Orphanet:222628	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	569974	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Dyskeratosis congenita
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	569975	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Dyskeratosis congenita
Orphanet:182040	Orphanet:68383	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	569976	\N	\N	EFO	2	EFO	Medullar aplasia	Dyskeratosis congenita
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	569977	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Dyskeratosis congenita
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	569978	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Dyskeratosis congenita
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	569979	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Dyskeratosis congenita
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	569980	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Dyskeratosis congenita
Orphanet:98602	Orphanet:98605	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	569981	\N	\N	EFO	2	EFO	Rare lacrimal system disease	Dyskeratosis congenita
Orphanet:98610	Orphanet:98616	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	569982	\N	\N	EFO	2	EFO	Rare conjunctival disease	Dyskeratosis congenita
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	4392451	\N	\N	EFO	6	EFO	disease	Dyskeratosis congenita
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	1151865	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dyskeratosis congenita
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	1151866	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dyskeratosis congenita
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	1151867	\N	\N	EFO	3	EFO	Primary immunodeficiency	Dyskeratosis congenita
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	1151868	\N	\N	EFO	3	EFO	Rare constitutional anemia	Dyskeratosis congenita
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	1151869	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dyskeratosis congenita
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	1151870	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dyskeratosis congenita
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	2034313	\N	\N	EFO	4	EFO	genetic disorder	Dyskeratosis congenita
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	1151872	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Dyskeratosis congenita
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	1151873	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Dyskeratosis congenita
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	1151874	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Dyskeratosis congenita
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	5028397	\N	\N	EFO	7	EFO	disposition	Dyskeratosis congenita
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	2034309	\N	\N	EFO	4	EFO	genetic disorder	Dyskeratosis congenita
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	2034310	\N	\N	EFO	4	EFO	skin disease	Dyskeratosis congenita
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	2034311	\N	\N	EFO	4	EFO	Rare genetic immune disease	Dyskeratosis congenita
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	2034312	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Dyskeratosis congenita
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	2034315	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Dyskeratosis congenita
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	2034316	\N	\N	EFO	4	EFO	Rare genetic eye disease	Dyskeratosis congenita
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	5817515	\N	\N	EFO	8	EFO	material property	Dyskeratosis congenita
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	3184816	\N	\N	EFO	5	EFO	disease	Dyskeratosis congenita
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	3184817	\N	\N	EFO	5	EFO	genetic disorder	Dyskeratosis congenita
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	3184818	\N	\N	EFO	5	EFO	immune system disease	Dyskeratosis congenita
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	3184819	\N	\N	EFO	5	EFO	genetic disorder	Dyskeratosis congenita
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	3184820	\N	\N	EFO	5	EFO	hematological system disease	Dyskeratosis congenita
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	3184821	\N	\N	EFO	5	EFO	genetic disorder	Dyskeratosis congenita
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	3184822	\N	\N	EFO	5	EFO	genetic disorder	Dyskeratosis congenita
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	3184823	\N	\N	EFO	5	EFO	eye disease	Dyskeratosis congenita
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	6409881	\N	\N	EFO	9	EFO	experimental factor	Dyskeratosis congenita
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	4392452	\N	\N	EFO	6	EFO	disease	Dyskeratosis congenita
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	4392453	\N	\N	EFO	6	EFO	disease	Dyskeratosis congenita
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1775	"Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." []	4392454	\N	\N	EFO	6	EFO	disease	Dyskeratosis congenita
Orphanet:1777	\N	\N	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	74053	\N	\N	EFO	0	EFO	Temtamy syndrome	Temtamy syndrome
Orphanet:102283	Orphanet:1777	\N	"" []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	215749	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Temtamy syndrome
Orphanet:183763	Orphanet:1777	\N	"" []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	215750	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Temtamy syndrome
Orphanet:269573	Orphanet:1777	\N	"" []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	215751	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Temtamy syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	569983	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Temtamy syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	569984	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Temtamy syndrome
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	569985	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Temtamy syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	1151875	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Temtamy syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	1151876	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Temtamy syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	1151877	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Temtamy syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	3184825	\N	\N	EFO	5	EFO	genetic disorder	Temtamy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	3184826	\N	\N	EFO	5	EFO	genetic disorder	Temtamy syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	2034319	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Temtamy syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	2034320	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Temtamy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	4133396	\N	\N	EFO	6	EFO	disease	Temtamy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	5181770	\N	\N	EFO	7	EFO	disposition	Temtamy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	5997148	\N	\N	EFO	8	EFO	material property	Temtamy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1777	"Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." []	6550670	\N	\N	EFO	9	EFO	experimental factor	Temtamy syndrome
Orphanet:1778	\N	\N	"" []	Orphanet:1778	"" []	74054	\N	\N	EFO	0	EFO	Facial dysmorphism - shawl scrotum - joint laxity	Facial dysmorphism - shawl scrotum - joint laxity
Orphanet:102283	Orphanet:1778	\N	"" []	Orphanet:1778	"" []	215752	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Facial dysmorphism - shawl scrotum - joint laxity
Orphanet:183763	Orphanet:1778	\N	"" []	Orphanet:1778	"" []	215753	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Facial dysmorphism - shawl scrotum - joint laxity
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1778	"" []	569986	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Facial dysmorphism - shawl scrotum - joint laxity
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1778	"" []	569987	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Facial dysmorphism - shawl scrotum - joint laxity
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1778	"" []	1151878	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Facial dysmorphism - shawl scrotum - joint laxity
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1778	"" []	1151879	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Facial dysmorphism - shawl scrotum - joint laxity
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1778	"" []	2034321	\N	\N	EFO	4	EFO	genetic disorder	Facial dysmorphism - shawl scrotum - joint laxity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1778	"" []	2034322	\N	\N	EFO	4	EFO	genetic disorder	Facial dysmorphism - shawl scrotum - joint laxity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1778	"" []	3184827	\N	\N	EFO	5	EFO	disease	Facial dysmorphism - shawl scrotum - joint laxity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1778	"" []	4392456	\N	\N	EFO	6	EFO	disposition	Facial dysmorphism - shawl scrotum - joint laxity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1778	"" []	5411236	\N	\N	EFO	7	EFO	material property	Facial dysmorphism - shawl scrotum - joint laxity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1778	"" []	6148640	\N	\N	EFO	8	EFO	experimental factor	Facial dysmorphism - shawl scrotum - joint laxity
Orphanet:1779	\N	\N	"" []	Orphanet:1779	"" []	74055	\N	\N	EFO	0	EFO	Dysmorphism - cleft palate - loose skin	Dysmorphism - cleft palate - loose skin
Orphanet:139039	Orphanet:1779	\N	"" []	Orphanet:1779	"" []	215754	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Dysmorphism - cleft palate - loose skin
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1779	"" []	569988	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Dysmorphism - cleft palate - loose skin
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1779	"" []	1151880	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Dysmorphism - cleft palate - loose skin
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1779	"" []	2034323	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Dysmorphism - cleft palate - loose skin
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1779	"" []	3184828	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Dysmorphism - cleft palate - loose skin
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1779	"" []	4392457	\N	\N	EFO	6	EFO	genetic disorder	Dysmorphism - cleft palate - loose skin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1779	"" []	5411237	\N	\N	EFO	7	EFO	disease	Dysmorphism - cleft palate - loose skin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1779	"" []	6148641	\N	\N	EFO	8	EFO	disposition	Dysmorphism - cleft palate - loose skin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1779	"" []	6632323	\N	\N	EFO	9	EFO	material property	Dysmorphism - cleft palate - loose skin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1779	"" []	6925490	\N	\N	EFO	10	EFO	experimental factor	Dysmorphism - cleft palate - loose skin
Orphanet:177901	\N	\N	"" []	Orphanet:177901	"" []	74056	\N	\N	EFO	0	EFO	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:98793	Orphanet:177901	\N	"" []	Orphanet:177901	"" []	215755	\N	\N	EFO	1	EFO	Prader-Willi syndrome due to paternal 15q11q13 deletion	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:262119	Orphanet:98793	\N	"" []	Orphanet:177901	"" []	569989	\N	\N	EFO	2	EFO	Partial deletion of the long arm of chromosome 15	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:739	Orphanet:98793	\N	"" []	Orphanet:177901	"" []	569990	\N	\N	EFO	2	EFO	Prader-Willi syndrome	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:98142	Orphanet:262119	\N	"" []	Orphanet:177901	"" []	1151881	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:181387	Orphanet:739	\N	"" []	Orphanet:177901	"" []	1151882	\N	\N	EFO	3	EFO	Rare disorder with hypogonadotropic hypogonadism	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:240371	Orphanet:739	\N	"" []	Orphanet:177901	"" []	1151883	\N	\N	EFO	3	EFO	Syndromic obesity	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:330197	Orphanet:739	\N	"" []	Orphanet:177901	"" []	1151884	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:399846	Orphanet:739	\N	"" []	Orphanet:177901	"" []	1151885	\N	\N	EFO	3	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:177901	"" []	2034324	\N	\N	EFO	4	EFO	Autosomal monosomy	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:177901	"" []	2034325	\N	\N	EFO	4	EFO	Congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:177901	"" []	2034326	\N	\N	EFO	4	EFO	Genetic obesity	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:177901	"" []	2034327	\N	\N	EFO	4	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:177901	"" []	2034328	\N	\N	EFO	4	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:177901	"" []	3184829	\N	\N	EFO	5	EFO	Autosomal anomaly	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:177901	"" []	3184830	\N	\N	EFO	5	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:177901	"" []	3184831	\N	\N	EFO	5	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:177901	"" []	3184832	\N	\N	EFO	5	EFO	Non-acquired pituitary hormone deficiency	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:177901	"" []	3184833	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:177901	"" []	3184834	\N	\N	EFO	5	EFO	Genetic overgrowth/obesity syndrome	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:177901	"" []	3184835	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:177901	"" []	3184836	\N	\N	EFO	5	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:177901	"" []	4392458	\N	\N	EFO	6	EFO	Chromosomal anomaly	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:177901	"" []	4392459	\N	\N	EFO	6	EFO	Rare genetic gynecological and obstetrical diseases	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:177901	"" []	4392460	\N	\N	EFO	6	EFO	Rare genetic male infertility	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:177901	"" []	4392461	\N	\N	EFO	6	EFO	Pituitary deficiency	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177901	"" []	6632326	\N	\N	EFO	9	EFO	genetic disorder	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:177901	"" []	6632327	\N	\N	EFO	9	EFO	endocrine system disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:177901	"" []	4392464	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177901	"" []	5411245	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:177901	"" []	4392466	\N	\N	EFO	6	EFO	Rare genetic female infertility	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177901	"" []	5411238	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177901	"" []	5411239	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:177901	"" []	5411240	\N	\N	EFO	7	EFO	reproductive system disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:177901	"" []	5411241	\N	\N	EFO	7	EFO	Genetic infertility	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:177901	"" []	5411242	\N	\N	EFO	7	EFO	Rare genetic hypothalamic or pituitary disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177901	"" []	6807730	\N	\N	EFO	10	EFO	disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177901	"" []	6807731	\N	\N	EFO	10	EFO	disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:177901	"" []	5411246	\N	\N	EFO	7	EFO	Genetic infertility	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177901	"" []	6632325	\N	\N	EFO	9	EFO	disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177901	"" []	6148643	\N	\N	EFO	8	EFO	genetic disorder	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:177901	"" []	6148644	\N	\N	EFO	8	EFO	reproductive system disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:177901	"" []	6148645	\N	\N	EFO	8	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:177901	"" []	7048567	\N	\N	EFO	11	EFO	disposition	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:177901	"" []	7190191	\N	\N	EFO	12	EFO	material property	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:177901	"" []	7281818	\N	\N	EFO	13	EFO	experimental factor	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Orphanet:177904	\N	\N	"" []	Orphanet:177904	"" []	74057	\N	\N	EFO	0	EFO	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:98793	Orphanet:177904	\N	"" []	Orphanet:177904	"" []	215756	\N	\N	EFO	1	EFO	Prader-Willi syndrome due to paternal 15q11q13 deletion	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:262119	Orphanet:98793	\N	"" []	Orphanet:177904	"" []	569991	\N	\N	EFO	2	EFO	Partial deletion of the long arm of chromosome 15	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:739	Orphanet:98793	\N	"" []	Orphanet:177904	"" []	569992	\N	\N	EFO	2	EFO	Prader-Willi syndrome	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:98142	Orphanet:262119	\N	"" []	Orphanet:177904	"" []	1151886	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:181387	Orphanet:739	\N	"" []	Orphanet:177904	"" []	1151887	\N	\N	EFO	3	EFO	Rare disorder with hypogonadotropic hypogonadism	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:240371	Orphanet:739	\N	"" []	Orphanet:177904	"" []	1151888	\N	\N	EFO	3	EFO	Syndromic obesity	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:330197	Orphanet:739	\N	"" []	Orphanet:177904	"" []	1151889	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:399846	Orphanet:739	\N	"" []	Orphanet:177904	"" []	1151890	\N	\N	EFO	3	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:177904	"" []	2034329	\N	\N	EFO	4	EFO	Autosomal monosomy	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:177904	"" []	2034330	\N	\N	EFO	4	EFO	Congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:177904	"" []	2034331	\N	\N	EFO	4	EFO	Genetic obesity	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:177904	"" []	2034332	\N	\N	EFO	4	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:177904	"" []	2034333	\N	\N	EFO	4	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:177904	"" []	3184837	\N	\N	EFO	5	EFO	Autosomal anomaly	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:177904	"" []	3184838	\N	\N	EFO	5	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:177904	"" []	3184839	\N	\N	EFO	5	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:177904	"" []	3184840	\N	\N	EFO	5	EFO	Non-acquired pituitary hormone deficiency	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:177904	"" []	3184841	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:177904	"" []	3184842	\N	\N	EFO	5	EFO	Genetic overgrowth/obesity syndrome	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:177904	"" []	3184843	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:177904	"" []	3184844	\N	\N	EFO	5	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:177904	"" []	4392467	\N	\N	EFO	6	EFO	Chromosomal anomaly	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:177904	"" []	4392468	\N	\N	EFO	6	EFO	Rare genetic gynecological and obstetrical diseases	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:177904	"" []	4392469	\N	\N	EFO	6	EFO	Rare genetic male infertility	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:177904	"" []	4392470	\N	\N	EFO	6	EFO	Pituitary deficiency	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177904	"" []	6632331	\N	\N	EFO	9	EFO	genetic disorder	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:177904	"" []	6632332	\N	\N	EFO	9	EFO	endocrine system disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:177904	"" []	4392473	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177904	"" []	5411254	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:177904	"" []	4392475	\N	\N	EFO	6	EFO	Rare genetic female infertility	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177904	"" []	5411247	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177904	"" []	5411248	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:177904	"" []	5411249	\N	\N	EFO	7	EFO	reproductive system disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:177904	"" []	5411250	\N	\N	EFO	7	EFO	Genetic infertility	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:177904	"" []	5411251	\N	\N	EFO	7	EFO	Rare genetic hypothalamic or pituitary disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177904	"" []	6807732	\N	\N	EFO	10	EFO	disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177904	"" []	6807733	\N	\N	EFO	10	EFO	disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:177904	"" []	5411255	\N	\N	EFO	7	EFO	Genetic infertility	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177904	"" []	6632330	\N	\N	EFO	9	EFO	disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177904	"" []	6148648	\N	\N	EFO	8	EFO	genetic disorder	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:177904	"" []	6148649	\N	\N	EFO	8	EFO	reproductive system disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:177904	"" []	6148650	\N	\N	EFO	8	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:177904	"" []	7048568	\N	\N	EFO	11	EFO	disposition	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:177904	"" []	7190192	\N	\N	EFO	12	EFO	material property	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:177904	"" []	7281819	\N	\N	EFO	13	EFO	experimental factor	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Orphanet:177907	\N	\N	"" []	Orphanet:177907	"" []	74058	\N	\N	EFO	0	EFO	Prader-Willi syndrome due to translocation	Prader-Willi syndrome due to translocation
Orphanet:739	Orphanet:177907	\N	"" []	Orphanet:177907	"" []	215757	\N	\N	EFO	1	EFO	Prader-Willi syndrome	Prader-Willi syndrome due to translocation
Orphanet:181387	Orphanet:739	\N	"" []	Orphanet:177907	"" []	569993	\N	\N	EFO	2	EFO	Rare disorder with hypogonadotropic hypogonadism	Prader-Willi syndrome due to translocation
Orphanet:240371	Orphanet:739	\N	"" []	Orphanet:177907	"" []	569994	\N	\N	EFO	2	EFO	Syndromic obesity	Prader-Willi syndrome due to translocation
Orphanet:330197	Orphanet:739	\N	"" []	Orphanet:177907	"" []	569995	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Prader-Willi syndrome due to translocation
Orphanet:399846	Orphanet:739	\N	"" []	Orphanet:177907	"" []	569996	\N	\N	EFO	2	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to translocation
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:177907	"" []	1151891	\N	\N	EFO	3	EFO	Congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to translocation
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:177907	"" []	1151892	\N	\N	EFO	3	EFO	Genetic obesity	Prader-Willi syndrome due to translocation
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:177907	"" []	1151893	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Prader-Willi syndrome due to translocation
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:177907	"" []	1151894	\N	\N	EFO	3	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to translocation
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:177907	"" []	2034334	\N	\N	EFO	4	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Prader-Willi syndrome due to translocation
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:177907	"" []	2034335	\N	\N	EFO	4	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to translocation
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:177907	"" []	2034336	\N	\N	EFO	4	EFO	Non-acquired pituitary hormone deficiency	Prader-Willi syndrome due to translocation
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:177907	"" []	2034337	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to translocation
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:177907	"" []	2034338	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Prader-Willi syndrome due to translocation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:177907	"" []	2034339	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to translocation
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:177907	"" []	2034340	\N	\N	EFO	4	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to translocation
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:177907	"" []	3184845	\N	\N	EFO	5	EFO	Rare genetic gynecological and obstetrical diseases	Prader-Willi syndrome due to translocation
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:177907	"" []	3184846	\N	\N	EFO	5	EFO	Rare genetic male infertility	Prader-Willi syndrome due to translocation
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:177907	"" []	3184847	\N	\N	EFO	5	EFO	Pituitary deficiency	Prader-Willi syndrome due to translocation
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177907	"" []	6148654	\N	\N	EFO	8	EFO	genetic disorder	Prader-Willi syndrome due to translocation
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:177907	"" []	6148655	\N	\N	EFO	8	EFO	endocrine system disease	Prader-Willi syndrome due to translocation
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:177907	"" []	3184850	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to translocation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177907	"" []	4392482	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi syndrome due to translocation
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:177907	"" []	3184852	\N	\N	EFO	5	EFO	Rare genetic female infertility	Prader-Willi syndrome due to translocation
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177907	"" []	4392476	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi syndrome due to translocation
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:177907	"" []	4392477	\N	\N	EFO	6	EFO	reproductive system disease	Prader-Willi syndrome due to translocation
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:177907	"" []	4392478	\N	\N	EFO	6	EFO	Genetic infertility	Prader-Willi syndrome due to translocation
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:177907	"" []	4392479	\N	\N	EFO	6	EFO	Rare genetic hypothalamic or pituitary disease	Prader-Willi syndrome due to translocation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177907	"" []	6409882	\N	\N	EFO	9	EFO	disease	Prader-Willi syndrome due to translocation
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177907	"" []	6409883	\N	\N	EFO	9	EFO	disease	Prader-Willi syndrome due to translocation
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:177907	"" []	4392483	\N	\N	EFO	6	EFO	Genetic infertility	Prader-Willi syndrome due to translocation
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177907	"" []	6148653	\N	\N	EFO	8	EFO	disease	Prader-Willi syndrome due to translocation
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177907	"" []	5411257	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi syndrome due to translocation
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:177907	"" []	5411258	\N	\N	EFO	7	EFO	reproductive system disease	Prader-Willi syndrome due to translocation
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:177907	"" []	5411259	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to translocation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:177907	"" []	6807734	\N	\N	EFO	10	EFO	disposition	Prader-Willi syndrome due to translocation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:177907	"" []	7048569	\N	\N	EFO	11	EFO	material property	Prader-Willi syndrome due to translocation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:177907	"" []	7190193	\N	\N	EFO	12	EFO	experimental factor	Prader-Willi syndrome due to translocation
Orphanet:177910	\N	\N	"" []	Orphanet:177910	"" []	74059	\N	\N	EFO	0	EFO	Prader-Willi syndrome due to imprinting mutation	Prader-Willi syndrome due to imprinting mutation
Orphanet:739	Orphanet:177910	\N	"" []	Orphanet:177910	"" []	215758	\N	\N	EFO	1	EFO	Prader-Willi syndrome	Prader-Willi syndrome due to imprinting mutation
Orphanet:181387	Orphanet:739	\N	"" []	Orphanet:177910	"" []	569997	\N	\N	EFO	2	EFO	Rare disorder with hypogonadotropic hypogonadism	Prader-Willi syndrome due to imprinting mutation
Orphanet:240371	Orphanet:739	\N	"" []	Orphanet:177910	"" []	569998	\N	\N	EFO	2	EFO	Syndromic obesity	Prader-Willi syndrome due to imprinting mutation
Orphanet:330197	Orphanet:739	\N	"" []	Orphanet:177910	"" []	569999	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Prader-Willi syndrome due to imprinting mutation
Orphanet:399846	Orphanet:739	\N	"" []	Orphanet:177910	"" []	570000	\N	\N	EFO	2	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to imprinting mutation
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:177910	"" []	1151895	\N	\N	EFO	3	EFO	Congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to imprinting mutation
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:177910	"" []	1151896	\N	\N	EFO	3	EFO	Genetic obesity	Prader-Willi syndrome due to imprinting mutation
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:177910	"" []	1151897	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Prader-Willi syndrome due to imprinting mutation
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:177910	"" []	1151898	\N	\N	EFO	3	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to imprinting mutation
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:177910	"" []	2034341	\N	\N	EFO	4	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Prader-Willi syndrome due to imprinting mutation
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:177910	"" []	2034342	\N	\N	EFO	4	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to imprinting mutation
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:177910	"" []	2034343	\N	\N	EFO	4	EFO	Non-acquired pituitary hormone deficiency	Prader-Willi syndrome due to imprinting mutation
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:177910	"" []	2034344	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to imprinting mutation
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:177910	"" []	2034345	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Prader-Willi syndrome due to imprinting mutation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:177910	"" []	2034346	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to imprinting mutation
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:177910	"" []	2034347	\N	\N	EFO	4	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to imprinting mutation
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:177910	"" []	3184853	\N	\N	EFO	5	EFO	Rare genetic gynecological and obstetrical diseases	Prader-Willi syndrome due to imprinting mutation
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:177910	"" []	3184854	\N	\N	EFO	5	EFO	Rare genetic male infertility	Prader-Willi syndrome due to imprinting mutation
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:177910	"" []	3184855	\N	\N	EFO	5	EFO	Pituitary deficiency	Prader-Willi syndrome due to imprinting mutation
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177910	"" []	6148659	\N	\N	EFO	8	EFO	genetic disorder	Prader-Willi syndrome due to imprinting mutation
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:177910	"" []	6148660	\N	\N	EFO	8	EFO	endocrine system disease	Prader-Willi syndrome due to imprinting mutation
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:177910	"" []	3184858	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to imprinting mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177910	"" []	4392490	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi syndrome due to imprinting mutation
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:177910	"" []	3184860	\N	\N	EFO	5	EFO	Rare genetic female infertility	Prader-Willi syndrome due to imprinting mutation
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177910	"" []	4392484	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi syndrome due to imprinting mutation
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:177910	"" []	4392485	\N	\N	EFO	6	EFO	reproductive system disease	Prader-Willi syndrome due to imprinting mutation
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:177910	"" []	4392486	\N	\N	EFO	6	EFO	Genetic infertility	Prader-Willi syndrome due to imprinting mutation
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:177910	"" []	4392487	\N	\N	EFO	6	EFO	Rare genetic hypothalamic or pituitary disease	Prader-Willi syndrome due to imprinting mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177910	"" []	6409884	\N	\N	EFO	9	EFO	disease	Prader-Willi syndrome due to imprinting mutation
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177910	"" []	6409885	\N	\N	EFO	9	EFO	disease	Prader-Willi syndrome due to imprinting mutation
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:177910	"" []	4392491	\N	\N	EFO	6	EFO	Genetic infertility	Prader-Willi syndrome due to imprinting mutation
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177910	"" []	6148658	\N	\N	EFO	8	EFO	disease	Prader-Willi syndrome due to imprinting mutation
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177910	"" []	5411262	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi syndrome due to imprinting mutation
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:177910	"" []	5411263	\N	\N	EFO	7	EFO	reproductive system disease	Prader-Willi syndrome due to imprinting mutation
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:177910	"" []	5411264	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to imprinting mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:177910	"" []	6807735	\N	\N	EFO	10	EFO	disposition	Prader-Willi syndrome due to imprinting mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:177910	"" []	7048570	\N	\N	EFO	11	EFO	material property	Prader-Willi syndrome due to imprinting mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:177910	"" []	7190194	\N	\N	EFO	12	EFO	experimental factor	Prader-Willi syndrome due to imprinting mutation
Orphanet:177926	\N	\N	" gene (Xq28), encoding coagulation factor VIII." []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	74060	\N	\N	EFO	0	EFO	Symptomatic form of hemophilia A in female carriers	Symptomatic form of hemophilia A in female carriers
Orphanet:98878	Orphanet:177926	\N	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	215759	\N	\N	EFO	1	EFO	Hemophilia A	Symptomatic form of hemophilia A in female carriers
Orphanet:448	Orphanet:98878	\N	"" []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	570001	\N	\N	EFO	2	EFO	Hemophilia	Symptomatic form of hemophilia A in female carriers
Orphanet:68334	Orphanet:448	\N	"" []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	1151899	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Symptomatic form of hemophilia A in female carriers
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	2034348	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Symptomatic form of hemophilia A in female carriers
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	3184861	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Symptomatic form of hemophilia A in female carriers
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	4392492	\N	\N	EFO	6	EFO	genetic disorder	Symptomatic form of hemophilia A in female carriers
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	4392493	\N	\N	EFO	6	EFO	hematological system disease	Symptomatic form of hemophilia A in female carriers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	5411266	\N	\N	EFO	7	EFO	disease	Symptomatic form of hemophilia A in female carriers
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	5411267	\N	\N	EFO	7	EFO	disease	Symptomatic form of hemophilia A in female carriers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	6148662	\N	\N	EFO	8	EFO	disposition	Symptomatic form of hemophilia A in female carriers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	6632336	\N	\N	EFO	9	EFO	material property	Symptomatic form of hemophilia A in female carriers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:177926	" gene (Xq28), encoding coagulation factor VIII." []	6925493	\N	\N	EFO	10	EFO	experimental factor	Symptomatic form of hemophilia A in female carriers
Orphanet:177929	\N	\N	" gene (Xq28), encoding coagulation factor IX." []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	74061	\N	\N	EFO	0	EFO	Symptomatic form of hemophilia B in female carriers	Symptomatic form of hemophilia B in female carriers
Orphanet:98879	Orphanet:177929	\N	"" []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	215760	\N	\N	EFO	1	EFO	Hemophilia B	Symptomatic form of hemophilia B in female carriers
Orphanet:448	Orphanet:98879	\N	"" []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	570002	\N	\N	EFO	2	EFO	Hemophilia	Symptomatic form of hemophilia B in female carriers
Orphanet:68334	Orphanet:448	\N	"" []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	1151900	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Symptomatic form of hemophilia B in female carriers
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	2034349	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Symptomatic form of hemophilia B in female carriers
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	3184862	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Symptomatic form of hemophilia B in female carriers
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	4392494	\N	\N	EFO	6	EFO	genetic disorder	Symptomatic form of hemophilia B in female carriers
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	4392495	\N	\N	EFO	6	EFO	hematological system disease	Symptomatic form of hemophilia B in female carriers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	5411268	\N	\N	EFO	7	EFO	disease	Symptomatic form of hemophilia B in female carriers
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	5411269	\N	\N	EFO	7	EFO	disease	Symptomatic form of hemophilia B in female carriers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	6148663	\N	\N	EFO	8	EFO	disposition	Symptomatic form of hemophilia B in female carriers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	6632337	\N	\N	EFO	9	EFO	material property	Symptomatic form of hemophilia B in female carriers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:177929	" gene (Xq28), encoding coagulation factor IX." []	6925494	\N	\N	EFO	10	EFO	experimental factor	Symptomatic form of hemophilia B in female carriers
Orphanet:178	\N	\N	"" []	Orphanet:178	"" []	74062	\N	\N	EFO	0	EFO	Chordoma	Chordoma
Orphanet:183527	Orphanet:178	\N	"" []	Orphanet:178	"" []	215761	\N	\N	EFO	1	EFO	Genetic bone tumor	Chordoma
Orphanet:271847	Orphanet:178	\N	"" []	Orphanet:178	"" []	215762	\N	\N	EFO	1	EFO	Genetic endocrine tumor	Chordoma
EFO:0003820	Orphanet:183527	\N	"Tumors or cancer located in bone tissue or specific BONES." []	Orphanet:178	"" []	570003	\N	\N	EFO	2	EFO	bone neoplasm	Chordoma
EFO:0004260	Orphanet:183527	\N	"Diseases of BONES." []	Orphanet:178	"" []	570004	\N	\N	EFO	2	EFO	bone disease	Chordoma
Orphanet:68336	Orphanet:183527	\N	"" []	Orphanet:178	"" []	570005	\N	\N	EFO	2	EFO	Rare genetic tumor	Chordoma
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:178	"" []	570006	\N	\N	EFO	2	EFO	endocrine neoplasm	Chordoma
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:178	"" []	570007	\N	\N	EFO	2	EFO	Rare genetic tumor	Chordoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:178	"" []	1151901	\N	\N	EFO	3	EFO	neoplasm	Chordoma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:178	"" []	1151902	\N	\N	EFO	3	EFO	skeletal system disease	Chordoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178	"" []	1151903	\N	\N	EFO	3	EFO	genetic disorder	Chordoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:178	"" []	1151904	\N	\N	EFO	3	EFO	neoplasm	Chordoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:178	"" []	1151905	\N	\N	EFO	3	EFO	neoplasm	Chordoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:178	"" []	1151906	\N	\N	EFO	3	EFO	endocrine system disease	Chordoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178	"" []	2034350	\N	\N	EFO	4	EFO	disease	Chordoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178	"" []	2034351	\N	\N	EFO	4	EFO	disease	Chordoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178	"" []	2034352	\N	\N	EFO	4	EFO	disease	Chordoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178	"" []	2034353	\N	\N	EFO	4	EFO	disease	Chordoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178	"" []	3184863	\N	\N	EFO	5	EFO	disposition	Chordoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178	"" []	4392496	\N	\N	EFO	6	EFO	material property	Chordoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178	"" []	5411270	\N	\N	EFO	7	EFO	experimental factor	Chordoma
Orphanet:178025	\N	\N	"" []	Orphanet:178025	"" []	74063	\N	\N	EFO	0	EFO	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
Orphanet:467	Orphanet:178025	\N	"" []	Orphanet:178025	"" []	215763	\N	\N	EFO	1	EFO	Non-acquired combined pituitary hormone deficiency	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:178025	"" []	570008	\N	\N	EFO	2	EFO	Non-acquired pituitary hormone deficiency	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:178025	"" []	1151907	\N	\N	EFO	3	EFO	Pituitary deficiency	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:178025	"" []	2034354	\N	\N	EFO	4	EFO	Rare genetic hypothalamic or pituitary disease	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:178025	"" []	3184864	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178025	"" []	4392497	\N	\N	EFO	6	EFO	genetic disorder	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:178025	"" []	4392498	\N	\N	EFO	6	EFO	endocrine system disease	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178025	"" []	5411271	\N	\N	EFO	7	EFO	disease	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178025	"" []	5411272	\N	\N	EFO	7	EFO	disease	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178025	"" []	6148664	\N	\N	EFO	8	EFO	disposition	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178025	"" []	6632338	\N	\N	EFO	9	EFO	material property	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178025	"" []	6925495	\N	\N	EFO	10	EFO	experimental factor	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
Orphanet:178040	\N	\N	"" []	Orphanet:178040	"" []	74064	\N	\N	EFO	0	EFO	Peripheral precocious puberty	Peripheral precocious puberty
Orphanet:202940	Orphanet:178040	\N	"" []	Orphanet:178040	"" []	215764	\N	\N	EFO	1	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Peripheral precocious puberty
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:178040	"" []	570009	\N	\N	EFO	2	EFO	Rare genetic gynecological and obstetrical diseases	Peripheral precocious puberty
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178040	"" []	1151908	\N	\N	EFO	3	EFO	genetic disorder	Peripheral precocious puberty
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:178040	"" []	1151909	\N	\N	EFO	3	EFO	reproductive system disease	Peripheral precocious puberty
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178040	"" []	2034355	\N	\N	EFO	4	EFO	disease	Peripheral precocious puberty
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178040	"" []	2034356	\N	\N	EFO	4	EFO	disease	Peripheral precocious puberty
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178040	"" []	3184865	\N	\N	EFO	5	EFO	disposition	Peripheral precocious puberty
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178040	"" []	4392499	\N	\N	EFO	6	EFO	material property	Peripheral precocious puberty
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178040	"" []	5411273	\N	\N	EFO	7	EFO	experimental factor	Peripheral precocious puberty
Orphanet:178145	\N	\N	"" []	Orphanet:178145	"" []	74065	\N	\N	EFO	0	EFO	Moderate multiminicore disease with hand involvement	Moderate multiminicore disease with hand involvement
Orphanet:598	Orphanet:178145	\N	"" []	Orphanet:178145	"" []	215765	\N	\N	EFO	1	EFO	Multiminicore myopathy	Moderate multiminicore disease with hand involvement
Orphanet:172976	Orphanet:598	\N	"" []	Orphanet:178145	"" []	570010	\N	\N	EFO	2	EFO	Congenital myopathy with cores	Moderate multiminicore disease with hand involvement
Orphanet:209193	Orphanet:598	\N	"" []	Orphanet:178145	"" []	570011	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of selenoprotein N1	Moderate multiminicore disease with hand involvement
Orphanet:97245	Orphanet:172976	\N	"" []	Orphanet:178145	"" []	1151910	\N	\N	EFO	3	EFO	Congenital myopathy	Moderate multiminicore disease with hand involvement
Orphanet:207049	Orphanet:209193	\N	"" []	Orphanet:178145	"" []	1151911	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Moderate multiminicore disease with hand involvement
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:178145	"" []	2034357	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Moderate multiminicore disease with hand involvement
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:178145	"" []	2034358	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Moderate multiminicore disease with hand involvement
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:178145	"" []	3184866	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Moderate multiminicore disease with hand involvement
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:178145	"" []	5411274	\N	\N	EFO	7	EFO	muscular disease	Moderate multiminicore disease with hand involvement
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:178145	"" []	5411275	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Moderate multiminicore disease with hand involvement
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:178145	"" []	4392500	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Moderate multiminicore disease with hand involvement
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:178145	"" []	5876867	\N	\N	EFO	8	EFO	skeletal system disease	Moderate multiminicore disease with hand involvement
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178145	"" []	5876868	\N	\N	EFO	8	EFO	genetic disorder	Moderate multiminicore disease with hand involvement
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178145	"" []	6470074	\N	\N	EFO	9	EFO	disease	Moderate multiminicore disease with hand involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178145	"" []	6470075	\N	\N	EFO	9	EFO	disease	Moderate multiminicore disease with hand involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178145	"" []	6848341	\N	\N	EFO	10	EFO	disposition	Moderate multiminicore disease with hand involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178145	"" []	7068400	\N	\N	EFO	11	EFO	material property	Moderate multiminicore disease with hand involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178145	"" []	7197155	\N	\N	EFO	12	EFO	experimental factor	Moderate multiminicore disease with hand involvement
Orphanet:178148	\N	\N	"" []	Orphanet:178148	"" []	74066	\N	\N	EFO	0	EFO	Antenatal multiminicore disease with arthrogryposis multiplex congenita	Antenatal multiminicore disease with arthrogryposis multiplex congenita
Orphanet:598	Orphanet:178148	\N	"" []	Orphanet:178148	"" []	215766	\N	\N	EFO	1	EFO	Multiminicore myopathy	Antenatal multiminicore disease with arthrogryposis multiplex congenita
Orphanet:172976	Orphanet:598	\N	"" []	Orphanet:178148	"" []	570012	\N	\N	EFO	2	EFO	Congenital myopathy with cores	Antenatal multiminicore disease with arthrogryposis multiplex congenita
Orphanet:209193	Orphanet:598	\N	"" []	Orphanet:178148	"" []	570013	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of selenoprotein N1	Antenatal multiminicore disease with arthrogryposis multiplex congenita
Orphanet:97245	Orphanet:172976	\N	"" []	Orphanet:178148	"" []	1151912	\N	\N	EFO	3	EFO	Congenital myopathy	Antenatal multiminicore disease with arthrogryposis multiplex congenita
Orphanet:207049	Orphanet:209193	\N	"" []	Orphanet:178148	"" []	1151913	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Antenatal multiminicore disease with arthrogryposis multiplex congenita
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:178148	"" []	2034359	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Antenatal multiminicore disease with arthrogryposis multiplex congenita
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:178148	"" []	2034360	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Antenatal multiminicore disease with arthrogryposis multiplex congenita
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:178148	"" []	3184869	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Antenatal multiminicore disease with arthrogryposis multiplex congenita
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:178148	"" []	5411278	\N	\N	EFO	7	EFO	muscular disease	Antenatal multiminicore disease with arthrogryposis multiplex congenita
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:178148	"" []	5411279	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Antenatal multiminicore disease with arthrogryposis multiplex congenita
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:178148	"" []	4392503	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Antenatal multiminicore disease with arthrogryposis multiplex congenita
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:178148	"" []	5876869	\N	\N	EFO	8	EFO	skeletal system disease	Antenatal multiminicore disease with arthrogryposis multiplex congenita
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178148	"" []	5876870	\N	\N	EFO	8	EFO	genetic disorder	Antenatal multiminicore disease with arthrogryposis multiplex congenita
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178148	"" []	6470076	\N	\N	EFO	9	EFO	disease	Antenatal multiminicore disease with arthrogryposis multiplex congenita
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178148	"" []	6470077	\N	\N	EFO	9	EFO	disease	Antenatal multiminicore disease with arthrogryposis multiplex congenita
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178148	"" []	6848342	\N	\N	EFO	10	EFO	disposition	Antenatal multiminicore disease with arthrogryposis multiplex congenita
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178148	"" []	7068401	\N	\N	EFO	11	EFO	material property	Antenatal multiminicore disease with arthrogryposis multiplex congenita
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178148	"" []	7197156	\N	\N	EFO	12	EFO	experimental factor	Antenatal multiminicore disease with arthrogryposis multiplex congenita
Orphanet:1782	\N	\N	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	74067	\N	\N	EFO	0	EFO	Dysosteosclerosis	Dysosteosclerosis
Orphanet:2781	Orphanet:1782	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	215767	\N	\N	EFO	1	EFO	Osteopetrosis	Dysosteosclerosis
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	570014	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Dysosteosclerosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	1151914	\N	\N	EFO	3	EFO	Primary bone dysplasia	Dysosteosclerosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	2034361	\N	\N	EFO	4	EFO	Rare genetic bone disease	Dysosteosclerosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	2034362	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Dysosteosclerosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	3184872	\N	\N	EFO	5	EFO	genetic disorder	Dysosteosclerosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	3184873	\N	\N	EFO	5	EFO	bone disease	Dysosteosclerosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	3184874	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Dysosteosclerosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	5411284	\N	\N	EFO	7	EFO	disease	Dysosteosclerosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	4392507	\N	\N	EFO	6	EFO	skeletal system disease	Dysosteosclerosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	4392508	\N	\N	EFO	6	EFO	genetic disorder	Dysosteosclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	5997153	\N	\N	EFO	8	EFO	disposition	Dysosteosclerosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	5411283	\N	\N	EFO	7	EFO	disease	Dysosteosclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	6550675	\N	\N	EFO	9	EFO	material property	Dysosteosclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1782	"Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." []	6889079	\N	\N	EFO	10	EFO	experimental factor	Dysosteosclerosis
Orphanet:178303	\N	\N	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	74068	\N	\N	EFO	0	EFO	8q22.1 microdeletion syndrome	8q22.1 microdeletion syndrome
Orphanet:262065	Orphanet:178303	\N	"" []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	215768	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 8	8q22.1 microdeletion syndrome
Orphanet:330206	Orphanet:178303	\N	"" []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	215769	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	8q22.1 microdeletion syndrome
Orphanet:261801	Orphanet:262065	\N	"" []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	570015	\N	\N	EFO	2	EFO	Partial deletion of chromosome 8	8q22.1 microdeletion syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	570016	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	8q22.1 microdeletion syndrome
Orphanet:98142	Orphanet:261801	\N	"" []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	1151915	\N	\N	EFO	3	EFO	Partial autosomal monosomy	8q22.1 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	1151916	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	8q22.1 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	2034363	\N	\N	EFO	4	EFO	Autosomal monosomy	8q22.1 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	2034364	\N	\N	EFO	4	EFO	genetic disorder	8q22.1 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	3184875	\N	\N	EFO	5	EFO	Autosomal anomaly	8q22.1 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	6148668	\N	\N	EFO	8	EFO	disease	8q22.1 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	4392509	\N	\N	EFO	6	EFO	Chromosomal anomaly	8q22.1 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	6409886	\N	\N	EFO	9	EFO	disposition	8q22.1 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	5411285	\N	\N	EFO	7	EFO	genetic disorder	8q22.1 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	6807736	\N	\N	EFO	10	EFO	material property	8q22.1 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178303	"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." []	7048571	\N	\N	EFO	11	EFO	experimental factor	8q22.1 microdeletion syndrome
Orphanet:178307	\N	\N	"" []	Orphanet:178307	"" []	74069	\N	\N	EFO	0	EFO	Reticulate acropigmentation of Kitamura	Reticulate acropigmentation of Kitamura
Orphanet:183466	Orphanet:178307	\N	"" []	Orphanet:178307	"" []	215770	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Reticulate acropigmentation of Kitamura
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:178307	"" []	570017	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Reticulate acropigmentation of Kitamura
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:178307	"" []	1151917	\N	\N	EFO	3	EFO	Rare genetic skin disease	Reticulate acropigmentation of Kitamura
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178307	"" []	2034365	\N	\N	EFO	4	EFO	genetic disorder	Reticulate acropigmentation of Kitamura
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:178307	"" []	2034366	\N	\N	EFO	4	EFO	skin disease	Reticulate acropigmentation of Kitamura
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178307	"" []	3184877	\N	\N	EFO	5	EFO	disease	Reticulate acropigmentation of Kitamura
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178307	"" []	3184878	\N	\N	EFO	5	EFO	disease	Reticulate acropigmentation of Kitamura
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178307	"" []	4392511	\N	\N	EFO	6	EFO	disposition	Reticulate acropigmentation of Kitamura
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178307	"" []	5411287	\N	\N	EFO	7	EFO	material property	Reticulate acropigmentation of Kitamura
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178307	"" []	6148670	\N	\N	EFO	8	EFO	experimental factor	Reticulate acropigmentation of Kitamura
Orphanet:178330	\N	\N	"" []	Orphanet:178330	"" []	74070	\N	\N	EFO	0	EFO	Heinz body anemia	Heinz body anemia
Orphanet:182043	Orphanet:178330	\N	"" []	Orphanet:178330	"" []	215771	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia	Heinz body anemia
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:178330	"" []	570018	\N	\N	EFO	2	EFO	Rare constitutional anemia	Heinz body anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:178330	"" []	1151918	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Heinz body anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178330	"" []	2034367	\N	\N	EFO	4	EFO	genetic disorder	Heinz body anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:178330	"" []	2034368	\N	\N	EFO	4	EFO	hematological system disease	Heinz body anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178330	"" []	3184879	\N	\N	EFO	5	EFO	disease	Heinz body anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178330	"" []	3184880	\N	\N	EFO	5	EFO	disease	Heinz body anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178330	"" []	4392512	\N	\N	EFO	6	EFO	disposition	Heinz body anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178330	"" []	5411288	\N	\N	EFO	7	EFO	material property	Heinz body anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178330	"" []	6148671	\N	\N	EFO	8	EFO	experimental factor	Heinz body anemia
Orphanet:178333	\N	\N	"Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." []	Orphanet:178333	"Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." []	74071	\N	\N	EFO	0	EFO	land Islands eye disease	land Islands eye disease
Orphanet:71862	Orphanet:178333	\N	"" []	Orphanet:178333	"Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." []	215772	\N	\N	EFO	1	EFO	Retinal dystrophy	land Islands eye disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:178333	"Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." []	570019	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	land Islands eye disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:178333	"Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." []	1151919	\N	\N	EFO	3	EFO	Rare genetic eye disease	land Islands eye disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178333	"Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." []	2034369	\N	\N	EFO	4	EFO	genetic disorder	land Islands eye disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:178333	"Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." []	2034370	\N	\N	EFO	4	EFO	eye disease	land Islands eye disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178333	"Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." []	3184881	\N	\N	EFO	5	EFO	disease	land Islands eye disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178333	"Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." []	3184882	\N	\N	EFO	5	EFO	disease	land Islands eye disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178333	"Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." []	4392513	\N	\N	EFO	6	EFO	disposition	land Islands eye disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178333	"Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." []	5411289	\N	\N	EFO	7	EFO	material property	land Islands eye disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178333	"Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." []	6148672	\N	\N	EFO	8	EFO	experimental factor	land Islands eye disease
Orphanet:178338	\N	\N	"" []	Orphanet:178338	"" []	74072	\N	\N	EFO	0	EFO	UV-sensitive syndrome	UV-sensitive syndrome
Orphanet:183490	Orphanet:178338	\N	"" []	Orphanet:178338	"" []	215773	\N	\N	EFO	1	EFO	Genetic photodermatosis	UV-sensitive syndrome
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:178338	"" []	570020	\N	\N	EFO	2	EFO	Rare genetic skin disease	UV-sensitive syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178338	"" []	1151920	\N	\N	EFO	3	EFO	genetic disorder	UV-sensitive syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:178338	"" []	1151921	\N	\N	EFO	3	EFO	skin disease	UV-sensitive syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178338	"" []	2034371	\N	\N	EFO	4	EFO	disease	UV-sensitive syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178338	"" []	2034372	\N	\N	EFO	4	EFO	disease	UV-sensitive syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178338	"" []	3184883	\N	\N	EFO	5	EFO	disposition	UV-sensitive syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178338	"" []	4392514	\N	\N	EFO	6	EFO	material property	UV-sensitive syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178338	"" []	5411290	\N	\N	EFO	7	EFO	experimental factor	UV-sensitive syndrome
Orphanet:178345	\N	\N	"" []	Orphanet:178345	"" []	74073	\N	\N	EFO	0	EFO	Aromatase excess syndrome	Aromatase excess syndrome
Orphanet:202940	Orphanet:178345	\N	"" []	Orphanet:178345	"" []	215774	\N	\N	EFO	1	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Aromatase excess syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:178345	"" []	570021	\N	\N	EFO	2	EFO	Rare genetic gynecological and obstetrical diseases	Aromatase excess syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178345	"" []	1151922	\N	\N	EFO	3	EFO	genetic disorder	Aromatase excess syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:178345	"" []	1151923	\N	\N	EFO	3	EFO	reproductive system disease	Aromatase excess syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178345	"" []	2034373	\N	\N	EFO	4	EFO	disease	Aromatase excess syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178345	"" []	2034374	\N	\N	EFO	4	EFO	disease	Aromatase excess syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178345	"" []	3184884	\N	\N	EFO	5	EFO	disposition	Aromatase excess syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178345	"" []	4392515	\N	\N	EFO	6	EFO	material property	Aromatase excess syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178345	"" []	5411291	\N	\N	EFO	7	EFO	experimental factor	Aromatase excess syndrome
Orphanet:178355	\N	\N	"" []	Orphanet:178355	"" []	74074	\N	\N	EFO	0	EFO	Smith-McCort dysplasia	Smith-McCort dysplasia
Orphanet:253	Orphanet:178355	\N	"" []	Orphanet:178355	"" []	215775	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Smith-McCort dysplasia
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:178355	"" []	570022	\N	\N	EFO	2	EFO	Primary bone dysplasia	Smith-McCort dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:178355	"" []	1151924	\N	\N	EFO	3	EFO	Rare genetic bone disease	Smith-McCort dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:178355	"" []	1151925	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Smith-McCort dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178355	"" []	2034375	\N	\N	EFO	4	EFO	genetic disorder	Smith-McCort dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:178355	"" []	2034376	\N	\N	EFO	4	EFO	bone disease	Smith-McCort dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:178355	"" []	2034377	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Smith-McCort dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178355	"" []	4392518	\N	\N	EFO	6	EFO	disease	Smith-McCort dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:178355	"" []	3184886	\N	\N	EFO	5	EFO	skeletal system disease	Smith-McCort dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178355	"" []	3184887	\N	\N	EFO	5	EFO	genetic disorder	Smith-McCort dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178355	"" []	5181773	\N	\N	EFO	7	EFO	disposition	Smith-McCort dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178355	"" []	4392517	\N	\N	EFO	6	EFO	disease	Smith-McCort dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178355	"" []	5997154	\N	\N	EFO	8	EFO	material property	Smith-McCort dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178355	"" []	6550676	\N	\N	EFO	9	EFO	experimental factor	Smith-McCort dysplasia
Orphanet:178364	\N	\N	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	74075	\N	\N	EFO	0	EFO	Syndromic microphthalmia type 5	Syndromic microphthalmia type 5
Orphanet:202948	Orphanet:178364	\N	"" []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	215776	\N	\N	EFO	1	EFO	Syndromic microphthalmia	Syndromic microphthalmia type 5
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	570023	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Syndromic microphthalmia type 5
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	1151926	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Syndromic microphthalmia type 5
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	2034378	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Syndromic microphthalmia type 5
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	3184888	\N	\N	EFO	5	EFO	Rare genetic eye disease	Syndromic microphthalmia type 5
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	3184889	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndromic microphthalmia type 5
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	4392519	\N	\N	EFO	6	EFO	genetic disorder	Syndromic microphthalmia type 5
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	4392520	\N	\N	EFO	6	EFO	eye disease	Syndromic microphthalmia type 5
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	4392521	\N	\N	EFO	6	EFO	genetic disorder	Syndromic microphthalmia type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	5411293	\N	\N	EFO	7	EFO	disease	Syndromic microphthalmia type 5
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	5411294	\N	\N	EFO	7	EFO	disease	Syndromic microphthalmia type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	6148674	\N	\N	EFO	8	EFO	disposition	Syndromic microphthalmia type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	6632342	\N	\N	EFO	9	EFO	material property	Syndromic microphthalmia type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178364	"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." []	6925498	\N	\N	EFO	10	EFO	experimental factor	Syndromic microphthalmia type 5
Orphanet:178377	\N	\N	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	74076	\N	\N	EFO	0	EFO	Osteosclerosis-developmental delay-craniosynostosis syndrome	Osteosclerosis-developmental delay-craniosynostosis syndrome
Orphanet:139393	Orphanet:178377	\N	"" []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	215777	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Osteosclerosis-developmental delay-craniosynostosis syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	570024	\N	\N	EFO	2	EFO	Craniosynostosis	Osteosclerosis-developmental delay-craniosynostosis syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	1151927	\N	\N	EFO	3	EFO	Genetic cranial malformation	Osteosclerosis-developmental delay-craniosynostosis syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	1151928	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Osteosclerosis-developmental delay-craniosynostosis syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	2034379	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Osteosclerosis-developmental delay-craniosynostosis syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	2034380	\N	\N	EFO	4	EFO	Rare genetic bone disease	Osteosclerosis-developmental delay-craniosynostosis syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	2034381	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Osteosclerosis-developmental delay-craniosynostosis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	4392524	\N	\N	EFO	6	EFO	genetic disorder	Osteosclerosis-developmental delay-craniosynostosis syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	3184891	\N	\N	EFO	5	EFO	genetic disorder	Osteosclerosis-developmental delay-craniosynostosis syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	3184892	\N	\N	EFO	5	EFO	bone disease	Osteosclerosis-developmental delay-craniosynostosis syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	3184893	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Osteosclerosis-developmental delay-craniosynostosis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	5181774	\N	\N	EFO	7	EFO	disease	Osteosclerosis-developmental delay-craniosynostosis syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	4392523	\N	\N	EFO	6	EFO	skeletal system disease	Osteosclerosis-developmental delay-craniosynostosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	5997155	\N	\N	EFO	8	EFO	disposition	Osteosclerosis-developmental delay-craniosynostosis syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	5411296	\N	\N	EFO	7	EFO	disease	Osteosclerosis-developmental delay-craniosynostosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	6550677	\N	\N	EFO	9	EFO	material property	Osteosclerosis-developmental delay-craniosynostosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178377	"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." []	6889080	\N	\N	EFO	10	EFO	experimental factor	Osteosclerosis-developmental delay-craniosynostosis syndrome
Orphanet:178382	\N	\N	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	Orphanet:178382	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	74077	\N	\N	EFO	0	EFO	Congenital vertical talus	Congenital vertical talus
Orphanet:294944	Orphanet:178382	\N	"" []	Orphanet:178382	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	215778	\N	\N	EFO	1	EFO	Congenital deformities of limbs	Congenital vertical talus
Orphanet:109011	Orphanet:294944	\N	"" []	Orphanet:178382	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	570025	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Congenital vertical talus
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:178382	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	1151929	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Congenital vertical talus
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:178382	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	2034382	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital vertical talus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178382	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	3184894	\N	\N	EFO	5	EFO	genetic disorder	Congenital vertical talus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178382	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	4392525	\N	\N	EFO	6	EFO	disease	Congenital vertical talus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178382	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	5411297	\N	\N	EFO	7	EFO	disposition	Congenital vertical talus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178382	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	6148676	\N	\N	EFO	8	EFO	material property	Congenital vertical talus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178382	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	6632344	\N	\N	EFO	9	EFO	experimental factor	Congenital vertical talus
Orphanet:178389	\N	\N	"" []	Orphanet:178389	"" []	74078	\N	\N	EFO	0	EFO	Osteopetrosis - hypogammaglobulinemia	Osteopetrosis - hypogammaglobulinemia
Orphanet:2781	Orphanet:178389	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:178389	"" []	215779	\N	\N	EFO	1	EFO	Osteopetrosis	Osteopetrosis - hypogammaglobulinemia
Orphanet:331244	Orphanet:178389	\N	"" []	Orphanet:178389	"" []	215780	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome with predominantly antibody defects	Osteopetrosis - hypogammaglobulinemia
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:178389	"" []	570026	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Osteopetrosis - hypogammaglobulinemia
Orphanet:101977	Orphanet:331244	\N	"" []	Orphanet:178389	"" []	570027	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Osteopetrosis - hypogammaglobulinemia
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:178389	"" []	1151930	\N	\N	EFO	3	EFO	Primary bone dysplasia	Osteopetrosis - hypogammaglobulinemia
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:178389	"" []	1151931	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Osteopetrosis - hypogammaglobulinemia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:178389	"" []	2034383	\N	\N	EFO	4	EFO	Rare genetic bone disease	Osteopetrosis - hypogammaglobulinemia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:178389	"" []	2034384	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Osteopetrosis - hypogammaglobulinemia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:178389	"" []	2034385	\N	\N	EFO	4	EFO	Primary immunodeficiency	Osteopetrosis - hypogammaglobulinemia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178389	"" []	3184895	\N	\N	EFO	5	EFO	genetic disorder	Osteopetrosis - hypogammaglobulinemia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:178389	"" []	3184896	\N	\N	EFO	5	EFO	bone disease	Osteopetrosis - hypogammaglobulinemia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:178389	"" []	3184897	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Osteopetrosis - hypogammaglobulinemia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:178389	"" []	3184898	\N	\N	EFO	5	EFO	Rare genetic immune disease	Osteopetrosis - hypogammaglobulinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178389	"" []	5411300	\N	\N	EFO	7	EFO	disease	Osteopetrosis - hypogammaglobulinemia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:178389	"" []	4392527	\N	\N	EFO	6	EFO	skeletal system disease	Osteopetrosis - hypogammaglobulinemia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178389	"" []	4392528	\N	\N	EFO	6	EFO	genetic disorder	Osteopetrosis - hypogammaglobulinemia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178389	"" []	4392529	\N	\N	EFO	6	EFO	genetic disorder	Osteopetrosis - hypogammaglobulinemia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:178389	"" []	4392530	\N	\N	EFO	6	EFO	immune system disease	Osteopetrosis - hypogammaglobulinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178389	"" []	5997156	\N	\N	EFO	8	EFO	disposition	Osteopetrosis - hypogammaglobulinemia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178389	"" []	5411299	\N	\N	EFO	7	EFO	disease	Osteopetrosis - hypogammaglobulinemia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178389	"" []	5411301	\N	\N	EFO	7	EFO	disease	Osteopetrosis - hypogammaglobulinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178389	"" []	6550678	\N	\N	EFO	9	EFO	material property	Osteopetrosis - hypogammaglobulinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178389	"" []	6889081	\N	\N	EFO	10	EFO	experimental factor	Osteopetrosis - hypogammaglobulinemia
Orphanet:178396	\N	\N	"" []	Orphanet:178396	"" []	74079	\N	\N	EFO	0	EFO	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Orphanet:68334	Orphanet:178396	\N	"" []	Orphanet:178396	"" []	215781	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:178396	"" []	570028	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:178396	"" []	1151932	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178396	"" []	2034386	\N	\N	EFO	4	EFO	genetic disorder	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:178396	"" []	2034387	\N	\N	EFO	4	EFO	hematological system disease	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178396	"" []	3184899	\N	\N	EFO	5	EFO	disease	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178396	"" []	3184900	\N	\N	EFO	5	EFO	disease	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178396	"" []	4392531	\N	\N	EFO	6	EFO	disposition	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178396	"" []	5411302	\N	\N	EFO	7	EFO	material property	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178396	"" []	6148678	\N	\N	EFO	8	EFO	experimental factor	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Orphanet:1784	\N	\N	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	74080	\N	\N	EFO	0	EFO	Acro-fronto-facio-nasal dysostosis	Acro-fronto-facio-nasal dysostosis
Orphanet:364574	Orphanet:1784	\N	"" []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	215782	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Acro-fronto-facio-nasal dysostosis
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	570029	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Acro-fronto-facio-nasal dysostosis
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	570030	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Acro-fronto-facio-nasal dysostosis
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	1151933	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acro-fronto-facio-nasal dysostosis
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	1151934	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acro-fronto-facio-nasal dysostosis
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	1151935	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Acro-fronto-facio-nasal dysostosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	2034388	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Acro-fronto-facio-nasal dysostosis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	2034389	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Acro-fronto-facio-nasal dysostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	3184901	\N	\N	EFO	5	EFO	Rare genetic bone disease	Acro-fronto-facio-nasal dysostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	3184902	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Acro-fronto-facio-nasal dysostosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	3184903	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acro-fronto-facio-nasal dysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	4392532	\N	\N	EFO	6	EFO	genetic disorder	Acro-fronto-facio-nasal dysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	4392533	\N	\N	EFO	6	EFO	bone disease	Acro-fronto-facio-nasal dysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	4392534	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acro-fronto-facio-nasal dysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	5411305	\N	\N	EFO	7	EFO	genetic disorder	Acro-fronto-facio-nasal dysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	5997157	\N	\N	EFO	8	EFO	disease	Acro-fronto-facio-nasal dysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	5411304	\N	\N	EFO	7	EFO	skeletal system disease	Acro-fronto-facio-nasal dysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	6550679	\N	\N	EFO	9	EFO	disposition	Acro-fronto-facio-nasal dysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	6148680	\N	\N	EFO	8	EFO	disease	Acro-fronto-facio-nasal dysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	6889082	\N	\N	EFO	10	EFO	material property	Acro-fronto-facio-nasal dysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1784	"Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []	7085908	\N	\N	EFO	11	EFO	experimental factor	Acro-fronto-facio-nasal dysostosis
Orphanet:178400	\N	\N	"" []	Orphanet:178400	"" []	74081	\N	\N	EFO	0	EFO	Distal myopathy with anterior tibial onset	Distal myopathy with anterior tibial onset
Orphanet:206653	Orphanet:178400	\N	"" []	Orphanet:178400	"" []	215783	\N	\N	EFO	1	EFO	Autosomal recessive distal myopathy	Distal myopathy with anterior tibial onset
Orphanet:207073	Orphanet:178400	\N	"" []	Orphanet:178400	"" []	215784	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of dysferlin	Distal myopathy with anterior tibial onset
Orphanet:599	Orphanet:206653	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:178400	"" []	570031	\N	\N	EFO	2	EFO	Distal myopathy	Distal myopathy with anterior tibial onset
Orphanet:207049	Orphanet:207073	\N	"" []	Orphanet:178400	"" []	570032	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Distal myopathy with anterior tibial onset
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:178400	"" []	1151936	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Distal myopathy with anterior tibial onset
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:178400	"" []	1151937	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Distal myopathy with anterior tibial onset
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:178400	"" []	2034390	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal myopathy with anterior tibial onset
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:178400	"" []	3184904	\N	\N	EFO	5	EFO	muscular disease	Distal myopathy with anterior tibial onset
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:178400	"" []	3184905	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal myopathy with anterior tibial onset
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:178400	"" []	4133397	\N	\N	EFO	6	EFO	skeletal system disease	Distal myopathy with anterior tibial onset
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178400	"" []	4133398	\N	\N	EFO	6	EFO	genetic disorder	Distal myopathy with anterior tibial onset
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178400	"" []	5181775	\N	\N	EFO	7	EFO	disease	Distal myopathy with anterior tibial onset
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178400	"" []	5181776	\N	\N	EFO	7	EFO	disease	Distal myopathy with anterior tibial onset
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178400	"" []	5997158	\N	\N	EFO	8	EFO	disposition	Distal myopathy with anterior tibial onset
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178400	"" []	6550680	\N	\N	EFO	9	EFO	material property	Distal myopathy with anterior tibial onset
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178400	"" []	6889083	\N	\N	EFO	10	EFO	experimental factor	Distal myopathy with anterior tibial onset
Orphanet:178461	\N	\N	"" []	Orphanet:178461	"" []	74082	\N	\N	EFO	0	EFO	X-linked myopathy with postural muscle atrophy	X-linked myopathy with postural muscle atrophy
Orphanet:206644	Orphanet:178461	\N	"" []	Orphanet:178461	"" []	215785	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	X-linked myopathy with postural muscle atrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:178461	"" []	570033	\N	\N	EFO	2	EFO	Muscular dystrophy	X-linked myopathy with postural muscle atrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:178461	"" []	1151938	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	X-linked myopathy with postural muscle atrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:178461	"" []	2034393	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	X-linked myopathy with postural muscle atrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:178461	"" []	3184908	\N	\N	EFO	5	EFO	muscular disease	X-linked myopathy with postural muscle atrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:178461	"" []	3184909	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked myopathy with postural muscle atrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:178461	"" []	4392538	\N	\N	EFO	6	EFO	skeletal system disease	X-linked myopathy with postural muscle atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178461	"" []	4392539	\N	\N	EFO	6	EFO	genetic disorder	X-linked myopathy with postural muscle atrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178461	"" []	5411307	\N	\N	EFO	7	EFO	disease	X-linked myopathy with postural muscle atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178461	"" []	5411308	\N	\N	EFO	7	EFO	disease	X-linked myopathy with postural muscle atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178461	"" []	6148682	\N	\N	EFO	8	EFO	disposition	X-linked myopathy with postural muscle atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178461	"" []	6632348	\N	\N	EFO	9	EFO	material property	X-linked myopathy with postural muscle atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178461	"" []	6925500	\N	\N	EFO	10	EFO	experimental factor	X-linked myopathy with postural muscle atrophy
Orphanet:178464	\N	\N	"" []	Orphanet:178464	"" []	74083	\N	\N	EFO	0	EFO	Hereditary proximal myopathy with early respiratory failure	Hereditary proximal myopathy with early respiratory failure
Orphanet:206644	Orphanet:178464	\N	"" []	Orphanet:178464	"" []	215786	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	Hereditary proximal myopathy with early respiratory failure
Orphanet:206662	Orphanet:178464	\N	"" []	Orphanet:178464	"" []	215787	\N	\N	EFO	1	EFO	Inclusion myopathy	Hereditary proximal myopathy with early respiratory failure
Orphanet:209053	Orphanet:178464	\N	"" []	Orphanet:178464	"" []	215788	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of titin	Hereditary proximal myopathy with early respiratory failure
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:178464	"" []	570034	\N	\N	EFO	2	EFO	Muscular dystrophy	Hereditary proximal myopathy with early respiratory failure
Orphanet:206656	Orphanet:206662	\N	"" []	Orphanet:178464	"" []	570035	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Hereditary proximal myopathy with early respiratory failure
Orphanet:207049	Orphanet:209053	\N	"" []	Orphanet:178464	"" []	570036	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Hereditary proximal myopathy with early respiratory failure
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:178464	"" []	1151939	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Hereditary proximal myopathy with early respiratory failure
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:178464	"" []	1151940	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Hereditary proximal myopathy with early respiratory failure
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:178464	"" []	1151941	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Hereditary proximal myopathy with early respiratory failure
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:178464	"" []	2034394	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Hereditary proximal myopathy with early respiratory failure
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:178464	"" []	3184910	\N	\N	EFO	5	EFO	muscular disease	Hereditary proximal myopathy with early respiratory failure
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:178464	"" []	3184911	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hereditary proximal myopathy with early respiratory failure
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:178464	"" []	4133399	\N	\N	EFO	6	EFO	skeletal system disease	Hereditary proximal myopathy with early respiratory failure
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178464	"" []	4133400	\N	\N	EFO	6	EFO	genetic disorder	Hereditary proximal myopathy with early respiratory failure
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178464	"" []	5181777	\N	\N	EFO	7	EFO	disease	Hereditary proximal myopathy with early respiratory failure
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178464	"" []	5181778	\N	\N	EFO	7	EFO	disease	Hereditary proximal myopathy with early respiratory failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178464	"" []	5997159	\N	\N	EFO	8	EFO	disposition	Hereditary proximal myopathy with early respiratory failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178464	"" []	6550681	\N	\N	EFO	9	EFO	material property	Hereditary proximal myopathy with early respiratory failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178464	"" []	6889084	\N	\N	EFO	10	EFO	experimental factor	Hereditary proximal myopathy with early respiratory failure
Orphanet:178469	\N	\N	"" []	Orphanet:178469	"" []	74084	\N	\N	EFO	0	EFO	Autosomal dominant non-syndromic intellectual disability	Autosomal dominant non-syndromic intellectual disability
Orphanet:101685	Orphanet:178469	\N	"" []	Orphanet:178469	"" []	215789	\N	\N	EFO	1	EFO	Rare intellectual disability without developmental anomaly	Autosomal dominant non-syndromic intellectual disability
Orphanet:183757	Orphanet:101685	\N	"" []	Orphanet:178469	"" []	570037	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Autosomal dominant non-syndromic intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:178469	"" []	1151942	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant non-syndromic intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178469	"" []	2034397	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant non-syndromic intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178469	"" []	3184914	\N	\N	EFO	5	EFO	disease	Autosomal dominant non-syndromic intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178469	"" []	4392542	\N	\N	EFO	6	EFO	disposition	Autosomal dominant non-syndromic intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178469	"" []	5411310	\N	\N	EFO	7	EFO	material property	Autosomal dominant non-syndromic intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178469	"" []	6148684	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant non-syndromic intellectual disability
Orphanet:178506	\N	\N	"" []	Orphanet:178506	"" []	74085	\N	\N	EFO	0	EFO	Brain calcification, Rajab type	Brain calcification, Rajab type
Orphanet:71859	Orphanet:178506	\N	"" []	Orphanet:178506	"" []	215790	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Brain calcification, Rajab type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178506	"" []	570038	\N	\N	EFO	2	EFO	genetic disorder	Brain calcification, Rajab type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178506	"" []	1151943	\N	\N	EFO	3	EFO	disease	Brain calcification, Rajab type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178506	"" []	2034398	\N	\N	EFO	4	EFO	disposition	Brain calcification, Rajab type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178506	"" []	3184915	\N	\N	EFO	5	EFO	material property	Brain calcification, Rajab type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178506	"" []	4392543	\N	\N	EFO	6	EFO	experimental factor	Brain calcification, Rajab type
Orphanet:178509	\N	\N	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	74086	\N	\N	EFO	0	EFO	Perry syndrome	Perry syndrome
Orphanet:307055	Orphanet:178509	\N	"" []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	215791	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Perry syndrome
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	570039	\N	\N	EFO	2	EFO	neurodegenerative disease	Perry syndrome
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	570040	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Perry syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	1151944	\N	\N	EFO	3	EFO	nervous system disease	Perry syndrome
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	1151945	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Perry syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	4392545	\N	\N	EFO	6	EFO	disease	Perry syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	2034400	\N	\N	EFO	4	EFO	movement disorder	Perry syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	2034401	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Perry syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	5059684	\N	\N	EFO	7	EFO	disposition	Perry syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	3184917	\N	\N	EFO	5	EFO	nervous system disease	Perry syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	3184918	\N	\N	EFO	5	EFO	genetic disorder	Perry syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	5876871	\N	\N	EFO	8	EFO	material property	Perry syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	4392546	\N	\N	EFO	6	EFO	disease	Perry syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:178509	"Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." []	6470078	\N	\N	EFO	9	EFO	experimental factor	Perry syndrome
Orphanet:1786	\N	\N	"" []	Orphanet:1786	"" []	74087	\N	\N	EFO	0	EFO	Acrofacial dysostosis, Catania type	Acrofacial dysostosis, Catania type
Orphanet:102283	Orphanet:1786	\N	"" []	Orphanet:1786	"" []	215792	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Acrofacial dysostosis, Catania type
Orphanet:183576	Orphanet:1786	\N	"" []	Orphanet:1786	"" []	215793	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Acrofacial dysostosis, Catania type
Orphanet:183763	Orphanet:1786	\N	"" []	Orphanet:1786	"" []	215794	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Acrofacial dysostosis, Catania type
Orphanet:364574	Orphanet:1786	\N	"" []	Orphanet:1786	"" []	215795	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Acrofacial dysostosis, Catania type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1786	"" []	570041	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Acrofacial dysostosis, Catania type
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:1786	"" []	570042	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Catania type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1786	"" []	570043	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Acrofacial dysostosis, Catania type
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:1786	"" []	570044	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Acrofacial dysostosis, Catania type
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:1786	"" []	570045	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Acrofacial dysostosis, Catania type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1786	"" []	1151946	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Catania type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1786	"" []	5411314	\N	\N	EFO	7	EFO	genetic disorder	Acrofacial dysostosis, Catania type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1786	"" []	1151948	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Acrofacial dysostosis, Catania type
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:1786	"" []	1151949	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrofacial dysostosis, Catania type
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1786	"" []	1151950	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrofacial dysostosis, Catania type
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1786	"" []	1151951	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Acrofacial dysostosis, Catania type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1786	"" []	5801839	\N	\N	EFO	8	EFO	disease	Acrofacial dysostosis, Catania type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1786	"" []	2034404	\N	\N	EFO	4	EFO	genetic disorder	Acrofacial dysostosis, Catania type
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1786	"" []	2034405	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Acrofacial dysostosis, Catania type
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1786	"" []	2034406	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Acrofacial dysostosis, Catania type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1786	"" []	6378823	\N	\N	EFO	9	EFO	disposition	Acrofacial dysostosis, Catania type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1786	"" []	3184920	\N	\N	EFO	5	EFO	Rare genetic bone disease	Acrofacial dysostosis, Catania type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1786	"" []	3184921	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Acrofacial dysostosis, Catania type
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1786	"" []	3184922	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Catania type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1786	"" []	6778618	\N	\N	EFO	10	EFO	material property	Acrofacial dysostosis, Catania type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1786	"" []	4392548	\N	\N	EFO	6	EFO	genetic disorder	Acrofacial dysostosis, Catania type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1786	"" []	4392549	\N	\N	EFO	6	EFO	bone disease	Acrofacial dysostosis, Catania type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1786	"" []	4392550	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Catania type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1786	"" []	7029833	\N	\N	EFO	11	EFO	experimental factor	Acrofacial dysostosis, Catania type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1786	"" []	5411313	\N	\N	EFO	7	EFO	skeletal system disease	Acrofacial dysostosis, Catania type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1786	"" []	6148685	\N	\N	EFO	8	EFO	disease	Acrofacial dysostosis, Catania type
Orphanet:1787	\N	\N	"" []	Orphanet:1787	"" []	74088	\N	\N	EFO	0	EFO	Acrofacial dysostosis, Palagonia type	Acrofacial dysostosis, Palagonia type
Orphanet:183576	Orphanet:1787	\N	"" []	Orphanet:1787	"" []	215796	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Acrofacial dysostosis, Palagonia type
Orphanet:364574	Orphanet:1787	\N	"" []	Orphanet:1787	"" []	215797	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Acrofacial dysostosis, Palagonia type
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:1787	"" []	570046	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Palagonia type
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:1787	"" []	570047	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Acrofacial dysostosis, Palagonia type
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:1787	"" []	570048	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Acrofacial dysostosis, Palagonia type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1787	"" []	5411317	\N	\N	EFO	7	EFO	genetic disorder	Acrofacial dysostosis, Palagonia type
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:1787	"" []	1151953	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrofacial dysostosis, Palagonia type
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1787	"" []	1151954	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrofacial dysostosis, Palagonia type
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1787	"" []	1151955	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Acrofacial dysostosis, Palagonia type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1787	"" []	5801840	\N	\N	EFO	8	EFO	disease	Acrofacial dysostosis, Palagonia type
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1787	"" []	2034408	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Acrofacial dysostosis, Palagonia type
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1787	"" []	2034409	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Acrofacial dysostosis, Palagonia type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1787	"" []	6378824	\N	\N	EFO	9	EFO	disposition	Acrofacial dysostosis, Palagonia type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1787	"" []	3184924	\N	\N	EFO	5	EFO	Rare genetic bone disease	Acrofacial dysostosis, Palagonia type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1787	"" []	3184925	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Acrofacial dysostosis, Palagonia type
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1787	"" []	3184926	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Palagonia type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1787	"" []	6778619	\N	\N	EFO	10	EFO	material property	Acrofacial dysostosis, Palagonia type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1787	"" []	4392553	\N	\N	EFO	6	EFO	genetic disorder	Acrofacial dysostosis, Palagonia type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1787	"" []	4392554	\N	\N	EFO	6	EFO	bone disease	Acrofacial dysostosis, Palagonia type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1787	"" []	4392555	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Palagonia type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1787	"" []	7029834	\N	\N	EFO	11	EFO	experimental factor	Acrofacial dysostosis, Palagonia type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1787	"" []	5411316	\N	\N	EFO	7	EFO	skeletal system disease	Acrofacial dysostosis, Palagonia type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1787	"" []	6148686	\N	\N	EFO	8	EFO	disease	Acrofacial dysostosis, Palagonia type
Orphanet:1788	\N	\N	"" []	Orphanet:1788	"" []	74089	\N	\N	EFO	0	EFO	Acrofacial dysostosis, Rodrguez type	Acrofacial dysostosis, Rodrguez type
Orphanet:102283	Orphanet:1788	\N	"" []	Orphanet:1788	"" []	215798	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Acrofacial dysostosis, Rodrguez type
Orphanet:183576	Orphanet:1788	\N	"" []	Orphanet:1788	"" []	215799	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Acrofacial dysostosis, Rodrguez type
Orphanet:183763	Orphanet:1788	\N	"" []	Orphanet:1788	"" []	215800	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Acrofacial dysostosis, Rodrguez type
Orphanet:364574	Orphanet:1788	\N	"" []	Orphanet:1788	"" []	215801	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Acrofacial dysostosis, Rodrguez type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1788	"" []	570049	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Acrofacial dysostosis, Rodrguez type
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:1788	"" []	570050	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Rodrguez type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1788	"" []	570051	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Acrofacial dysostosis, Rodrguez type
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:1788	"" []	570052	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Acrofacial dysostosis, Rodrguez type
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:1788	"" []	570053	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Acrofacial dysostosis, Rodrguez type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1788	"" []	1151956	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Rodrguez type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1788	"" []	5411320	\N	\N	EFO	7	EFO	genetic disorder	Acrofacial dysostosis, Rodrguez type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1788	"" []	1151958	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Acrofacial dysostosis, Rodrguez type
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:1788	"" []	1151959	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrofacial dysostosis, Rodrguez type
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1788	"" []	1151960	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrofacial dysostosis, Rodrguez type
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1788	"" []	1151961	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Acrofacial dysostosis, Rodrguez type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1788	"" []	5801841	\N	\N	EFO	8	EFO	disease	Acrofacial dysostosis, Rodrguez type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1788	"" []	2034412	\N	\N	EFO	4	EFO	genetic disorder	Acrofacial dysostosis, Rodrguez type
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1788	"" []	2034413	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Acrofacial dysostosis, Rodrguez type
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1788	"" []	2034414	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Acrofacial dysostosis, Rodrguez type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1788	"" []	6378825	\N	\N	EFO	9	EFO	disposition	Acrofacial dysostosis, Rodrguez type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1788	"" []	3184928	\N	\N	EFO	5	EFO	Rare genetic bone disease	Acrofacial dysostosis, Rodrguez type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1788	"" []	3184929	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Acrofacial dysostosis, Rodrguez type
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1788	"" []	3184930	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Rodrguez type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1788	"" []	6778620	\N	\N	EFO	10	EFO	material property	Acrofacial dysostosis, Rodrguez type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1788	"" []	4392558	\N	\N	EFO	6	EFO	genetic disorder	Acrofacial dysostosis, Rodrguez type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1788	"" []	4392559	\N	\N	EFO	6	EFO	bone disease	Acrofacial dysostosis, Rodrguez type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1788	"" []	4392560	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Rodrguez type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1788	"" []	7029835	\N	\N	EFO	11	EFO	experimental factor	Acrofacial dysostosis, Rodrguez type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1788	"" []	5411319	\N	\N	EFO	7	EFO	skeletal system disease	Acrofacial dysostosis, Rodrguez type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1788	"" []	6148687	\N	\N	EFO	8	EFO	disease	Acrofacial dysostosis, Rodrguez type
Orphanet:179	\N	\N	"" []	Orphanet:179	"" []	74090	\N	\N	EFO	0	EFO	Birdshot chorioretinopathy	Birdshot chorioretinopathy
EFO:0000540	Orphanet:179	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:179	"" []	215802	\N	\N	EFO	1	EFO	immune system disease	Birdshot chorioretinopathy
EFO:0003839	Orphanet:179	\N	"Any disease or disorder of the retina." []	Orphanet:179	"" []	215803	\N	\N	EFO	1	EFO	retinopathy	Birdshot chorioretinopathy
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:179	"" []	570054	\N	\N	EFO	2	EFO	disease	Birdshot chorioretinopathy
EFO:0000524	EFO:0003839	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	Orphanet:179	"" []	570055	\N	\N	EFO	2	EFO	head disease	Birdshot chorioretinopathy
EFO:0003966	EFO:0003839	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:179	"" []	570056	\N	\N	EFO	2	EFO	eye disease	Birdshot chorioretinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:179	"" []	2034416	\N	\N	EFO	4	EFO	disposition	Birdshot chorioretinopathy
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:179	"" []	1151963	\N	\N	EFO	3	EFO	disease	Birdshot chorioretinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:179	"" []	1151964	\N	\N	EFO	3	EFO	disease	Birdshot chorioretinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:179	"" []	3000162	\N	\N	EFO	5	EFO	material property	Birdshot chorioretinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:179	"" []	4133403	\N	\N	EFO	6	EFO	experimental factor	Birdshot chorioretinopathy
Orphanet:1790	\N	\N	"" []	Orphanet:1790	"" []	74091	\N	\N	EFO	0	EFO	Hypomandibular faciocranial dysostosis	Hypomandibular faciocranial dysostosis
Orphanet:183542	Orphanet:1790	\N	"" []	Orphanet:1790	"" []	215804	\N	\N	EFO	1	EFO	Genetic cranial malformation	Hypomandibular faciocranial dysostosis
Orphanet:330197	Orphanet:1790	\N	"" []	Orphanet:1790	"" []	215805	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Hypomandibular faciocranial dysostosis
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:1790	"" []	570057	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hypomandibular faciocranial dysostosis
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1790	"" []	570058	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hypomandibular faciocranial dysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1790	"" []	2034418	\N	\N	EFO	4	EFO	genetic disorder	Hypomandibular faciocranial dysostosis
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1790	"" []	1151966	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypomandibular faciocranial dysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1790	"" []	3000163	\N	\N	EFO	5	EFO	disease	Hypomandibular faciocranial dysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1790	"" []	4133404	\N	\N	EFO	6	EFO	disposition	Hypomandibular faciocranial dysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1790	"" []	5181781	\N	\N	EFO	7	EFO	material property	Hypomandibular faciocranial dysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1790	"" []	5997162	\N	\N	EFO	8	EFO	experimental factor	Hypomandibular faciocranial dysostosis
Orphanet:179006	\N	\N	"" []	Orphanet:179006	"" []	74092	\N	\N	EFO	0	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Primary immunodeficiency due to a defect in adaptive immunity
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:179006	"" []	215806	\N	\N	EFO	1	EFO	Primary immunodeficiency	Primary immunodeficiency due to a defect in adaptive immunity
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:179006	"" []	570059	\N	\N	EFO	2	EFO	Rare genetic immune disease	Primary immunodeficiency due to a defect in adaptive immunity
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:179006	"" []	1151967	\N	\N	EFO	3	EFO	genetic disorder	Primary immunodeficiency due to a defect in adaptive immunity
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:179006	"" []	1151968	\N	\N	EFO	3	EFO	immune system disease	Primary immunodeficiency due to a defect in adaptive immunity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:179006	"" []	2034419	\N	\N	EFO	4	EFO	disease	Primary immunodeficiency due to a defect in adaptive immunity
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:179006	"" []	2034420	\N	\N	EFO	4	EFO	disease	Primary immunodeficiency due to a defect in adaptive immunity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:179006	"" []	3184933	\N	\N	EFO	5	EFO	disposition	Primary immunodeficiency due to a defect in adaptive immunity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:179006	"" []	4392563	\N	\N	EFO	6	EFO	material property	Primary immunodeficiency due to a defect in adaptive immunity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:179006	"" []	5411322	\N	\N	EFO	7	EFO	experimental factor	Primary immunodeficiency due to a defect in adaptive immunity
Orphanet:1791	\N	\N	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	74093	\N	\N	EFO	0	EFO	Frontofacionasal dysplasia	Frontofacionasal dysplasia
Orphanet:108987	Orphanet:1791	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	215807	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Frontofacionasal dysplasia
Orphanet:183576	Orphanet:1791	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	215808	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Frontofacionasal dysplasia
Orphanet:250	Orphanet:1791	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	215809	\N	\N	EFO	1	EFO	Frontonasal dysplasia	Frontofacionasal dysplasia
Orphanet:330206	Orphanet:1791	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	215810	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Frontofacionasal dysplasia
Orphanet:98565	Orphanet:1791	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	215811	\N	\N	EFO	1	EFO	Syndromic ankyloblepharon	Frontofacionasal dysplasia
Orphanet:98566	Orphanet:1791	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	215812	\N	\N	EFO	1	EFO	Syndromic palpebral coloboma	Frontofacionasal dysplasia
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	570060	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Frontofacionasal dysplasia
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	570061	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Frontofacionasal dysplasia
Orphanet:93453	Orphanet:250	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	570062	\N	\N	EFO	2	EFO	Dysostosis with predominant craniofacial involvement	Frontofacionasal dysplasia
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	570063	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Frontofacionasal dysplasia
Orphanet:98564	Orphanet:98565	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	570064	\N	\N	EFO	2	EFO	Eyelid border anomaly	Frontofacionasal dysplasia
Orphanet:98564	Orphanet:98566	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	570065	\N	\N	EFO	2	EFO	Eyelid border anomaly	Frontofacionasal dysplasia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	1151969	\N	\N	EFO	3	EFO	Rare genetic eye disease	Frontofacionasal dysplasia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	1151970	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Frontofacionasal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	4392567	\N	\N	EFO	6	EFO	genetic disorder	Frontofacionasal dysplasia
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	1151972	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Frontofacionasal dysplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	1151973	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Frontofacionasal dysplasia
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	1151974	\N	\N	EFO	3	EFO	Eyelid malformation	Frontofacionasal dysplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	5411325	\N	\N	EFO	7	EFO	genetic disorder	Frontofacionasal dysplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	5411326	\N	\N	EFO	7	EFO	eye disease	Frontofacionasal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	5817519	\N	\N	EFO	8	EFO	disease	Frontofacionasal dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	2034425	\N	\N	EFO	4	EFO	Rare genetic bone disease	Frontofacionasal dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	2034426	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Frontofacionasal dysplasia
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	2034427	\N	\N	EFO	4	EFO	Rare palpebral disease	Frontofacionasal dysplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	5817520	\N	\N	EFO	8	EFO	disease	Frontofacionasal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	6378826	\N	\N	EFO	9	EFO	disposition	Frontofacionasal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	3184936	\N	\N	EFO	5	EFO	genetic disorder	Frontofacionasal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	3184937	\N	\N	EFO	5	EFO	bone disease	Frontofacionasal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	3184938	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Frontofacionasal dysplasia
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	3184939	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Frontofacionasal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	6778621	\N	\N	EFO	10	EFO	material property	Frontofacionasal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	4392566	\N	\N	EFO	6	EFO	skeletal system disease	Frontofacionasal dysplasia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	4392568	\N	\N	EFO	6	EFO	Rare genetic eye disease	Frontofacionasal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	7029836	\N	\N	EFO	11	EFO	experimental factor	Frontofacionasal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1791	"Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." []	5411324	\N	\N	EFO	7	EFO	disease	Frontofacionasal dysplasia
Orphanet:1794	\N	\N	"" []	Orphanet:1794	"" []	74094	\N	\N	EFO	0	EFO	Oculomaxillofacial dysostosis	Oculomaxillofacial dysostosis
Orphanet:139039	Orphanet:1794	\N	"" []	Orphanet:1794	"" []	215813	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Oculomaxillofacial dysostosis
Orphanet:93453	Orphanet:1794	\N	"" []	Orphanet:1794	"" []	215814	\N	\N	EFO	1	EFO	Dysostosis with predominant craniofacial involvement	Oculomaxillofacial dysostosis
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1794	"" []	570066	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Oculomaxillofacial dysostosis
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:1794	"" []	570067	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Oculomaxillofacial dysostosis
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1794	"" []	1151975	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Oculomaxillofacial dysostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1794	"" []	1151976	\N	\N	EFO	3	EFO	Rare genetic bone disease	Oculomaxillofacial dysostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1794	"" []	1151977	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Oculomaxillofacial dysostosis
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1794	"" []	2034428	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Oculomaxillofacial dysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1794	"" []	2034429	\N	\N	EFO	4	EFO	genetic disorder	Oculomaxillofacial dysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1794	"" []	2034430	\N	\N	EFO	4	EFO	bone disease	Oculomaxillofacial dysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1794	"" []	2034431	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Oculomaxillofacial dysostosis
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1794	"" []	3184940	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Oculomaxillofacial dysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1794	"" []	5181784	\N	\N	EFO	7	EFO	disease	Oculomaxillofacial dysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1794	"" []	3184942	\N	\N	EFO	5	EFO	skeletal system disease	Oculomaxillofacial dysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1794	"" []	4392569	\N	\N	EFO	6	EFO	genetic disorder	Oculomaxillofacial dysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1794	"" []	5876873	\N	\N	EFO	8	EFO	disposition	Oculomaxillofacial dysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1794	"" []	4392571	\N	\N	EFO	6	EFO	disease	Oculomaxillofacial dysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1794	"" []	6470080	\N	\N	EFO	9	EFO	material property	Oculomaxillofacial dysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1794	"" []	6848343	\N	\N	EFO	10	EFO	experimental factor	Oculomaxillofacial dysostosis
Orphanet:179490	\N	\N	"" []	Orphanet:179490	"" []	74095	\N	\N	EFO	0	EFO	Obesity due to congenital leptin resistance	Obesity due to congenital leptin resistance
Orphanet:98267	Orphanet:179490	\N	"" []	Orphanet:179490	"" []	215815	\N	\N	EFO	1	EFO	Genetic non-syndromic obesity	Obesity due to congenital leptin resistance
Orphanet:77828	Orphanet:98267	\N	"" []	Orphanet:179490	"" []	570068	\N	\N	EFO	2	EFO	Genetic obesity	Obesity due to congenital leptin resistance
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:179490	"" []	1151978	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Obesity due to congenital leptin resistance
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:179490	"" []	1151979	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Obesity due to congenital leptin resistance
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:179490	"" []	2034432	\N	\N	EFO	4	EFO	genetic disorder	Obesity due to congenital leptin resistance
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:179490	"" []	2034433	\N	\N	EFO	4	EFO	endocrine system disease	Obesity due to congenital leptin resistance
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:179490	"" []	2034434	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Obesity due to congenital leptin resistance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:179490	"" []	4392574	\N	\N	EFO	6	EFO	disease	Obesity due to congenital leptin resistance
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:179490	"" []	3184945	\N	\N	EFO	5	EFO	disease	Obesity due to congenital leptin resistance
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:179490	"" []	3184946	\N	\N	EFO	5	EFO	genetic disorder	Obesity due to congenital leptin resistance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:179490	"" []	5181785	\N	\N	EFO	7	EFO	disposition	Obesity due to congenital leptin resistance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:179490	"" []	5997165	\N	\N	EFO	8	EFO	material property	Obesity due to congenital leptin resistance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:179490	"" []	6550683	\N	\N	EFO	9	EFO	experimental factor	Obesity due to congenital leptin resistance
Orphanet:179494	\N	\N	"" []	Orphanet:179494	"" []	74096	\N	\N	EFO	0	EFO	Obesity due to leptin receptor gene deficiency	Obesity due to leptin receptor gene deficiency
Orphanet:179490	Orphanet:179494	\N	"" []	Orphanet:179494	"" []	215816	\N	\N	EFO	1	EFO	Obesity due to congenital leptin resistance	Obesity due to leptin receptor gene deficiency
Orphanet:181390	Orphanet:179494	\N	"" []	Orphanet:179494	"" []	215817	\N	\N	EFO	1	EFO	Hypogonadotropic hypogonadism associated with other endocrinopathies	Obesity due to leptin receptor gene deficiency
Orphanet:98267	Orphanet:179490	\N	"" []	Orphanet:179494	"" []	570069	\N	\N	EFO	2	EFO	Genetic non-syndromic obesity	Obesity due to leptin receptor gene deficiency
Orphanet:174590	Orphanet:181390	\N	"" []	Orphanet:179494	"" []	570070	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Obesity due to leptin receptor gene deficiency
Orphanet:399839	Orphanet:181390	\N	"" []	Orphanet:179494	"" []	570071	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Obesity due to leptin receptor gene deficiency
Orphanet:77828	Orphanet:98267	\N	"" []	Orphanet:179494	"" []	1151980	\N	\N	EFO	3	EFO	Genetic obesity	Obesity due to leptin receptor gene deficiency
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:179494	"" []	1151981	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Obesity due to leptin receptor gene deficiency
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:179494	"" []	1151982	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Obesity due to leptin receptor gene deficiency
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:179494	"" []	1151983	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Obesity due to leptin receptor gene deficiency
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:179494	"" []	1151984	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Obesity due to leptin receptor gene deficiency
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:179494	"" []	2034435	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Obesity due to leptin receptor gene deficiency
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:179494	"" []	2034436	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Obesity due to leptin receptor gene deficiency
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:179494	"" []	2034437	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Obesity due to leptin receptor gene deficiency
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:179494	"" []	2034438	\N	\N	EFO	4	EFO	Rare genetic male infertility	Obesity due to leptin receptor gene deficiency
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:179494	"" []	2034439	\N	\N	EFO	4	EFO	Pituitary deficiency	Obesity due to leptin receptor gene deficiency
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:179494	"" []	2034440	\N	\N	EFO	4	EFO	Rare genetic female infertility	Obesity due to leptin receptor gene deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:179494	"" []	5411332	\N	\N	EFO	7	EFO	genetic disorder	Obesity due to leptin receptor gene deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:179494	"" []	5411333	\N	\N	EFO	7	EFO	endocrine system disease	Obesity due to leptin receptor gene deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:179494	"" []	3184949	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Obesity due to leptin receptor gene deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:179494	"" []	3184950	\N	\N	EFO	5	EFO	genetic disorder	Obesity due to leptin receptor gene deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:179494	"" []	3184951	\N	\N	EFO	5	EFO	reproductive system disease	Obesity due to leptin receptor gene deficiency
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:179494	"" []	3184952	\N	\N	EFO	5	EFO	Genetic infertility	Obesity due to leptin receptor gene deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:179494	"" []	3184953	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Obesity due to leptin receptor gene deficiency
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:179494	"" []	3184954	\N	\N	EFO	5	EFO	Genetic infertility	Obesity due to leptin receptor gene deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:179494	"" []	5876874	\N	\N	EFO	8	EFO	disease	Obesity due to leptin receptor gene deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:179494	"" []	5876875	\N	\N	EFO	8	EFO	disease	Obesity due to leptin receptor gene deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:179494	"" []	4392577	\N	\N	EFO	6	EFO	genetic disorder	Obesity due to leptin receptor gene deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:179494	"" []	5411331	\N	\N	EFO	7	EFO	disease	Obesity due to leptin receptor gene deficiency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:179494	"" []	4392579	\N	\N	EFO	6	EFO	genetic disorder	Obesity due to leptin receptor gene deficiency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:179494	"" []	4392580	\N	\N	EFO	6	EFO	reproductive system disease	Obesity due to leptin receptor gene deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:179494	"" []	4392581	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Obesity due to leptin receptor gene deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:179494	"" []	6470081	\N	\N	EFO	9	EFO	disposition	Obesity due to leptin receptor gene deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:179494	"" []	6848344	\N	\N	EFO	10	EFO	material property	Obesity due to leptin receptor gene deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:179494	"" []	7068402	\N	\N	EFO	11	EFO	experimental factor	Obesity due to leptin receptor gene deficiency
Orphanet:1795	\N	\N	"" []	Orphanet:1795	"" []	74097	\N	\N	EFO	0	EFO	Peripheral dysostosis	Peripheral dysostosis
Orphanet:93436	Orphanet:1795	\N	"" []	Orphanet:1795	"" []	215818	\N	\N	EFO	1	EFO	Acromelic dysplasia	Peripheral dysostosis
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:1795	"" []	570072	\N	\N	EFO	2	EFO	Primary bone dysplasia	Peripheral dysostosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1795	"" []	1151985	\N	\N	EFO	3	EFO	Rare genetic bone disease	Peripheral dysostosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1795	"" []	1151986	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Peripheral dysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1795	"" []	2034441	\N	\N	EFO	4	EFO	genetic disorder	Peripheral dysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1795	"" []	2034442	\N	\N	EFO	4	EFO	bone disease	Peripheral dysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1795	"" []	2034443	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Peripheral dysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1795	"" []	4392584	\N	\N	EFO	6	EFO	disease	Peripheral dysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1795	"" []	3184956	\N	\N	EFO	5	EFO	skeletal system disease	Peripheral dysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1795	"" []	3184957	\N	\N	EFO	5	EFO	genetic disorder	Peripheral dysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1795	"" []	5181786	\N	\N	EFO	7	EFO	disposition	Peripheral dysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1795	"" []	4392583	\N	\N	EFO	6	EFO	disease	Peripheral dysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1795	"" []	5997167	\N	\N	EFO	8	EFO	material property	Peripheral dysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1795	"" []	6550685	\N	\N	EFO	9	EFO	experimental factor	Peripheral dysostosis
Orphanet:1797	\N	\N	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	74098	\N	\N	EFO	0	EFO	Autosomal dominant spondylocostal dysostosis	Autosomal dominant spondylocostal dysostosis
Orphanet:93454	Orphanet:1797	\N	"" []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	215819	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Autosomal dominant spondylocostal dysostosis
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	570073	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Autosomal dominant spondylocostal dysostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	1151987	\N	\N	EFO	3	EFO	Rare genetic bone disease	Autosomal dominant spondylocostal dysostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	1151988	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Autosomal dominant spondylocostal dysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	2034444	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant spondylocostal dysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	2034445	\N	\N	EFO	4	EFO	bone disease	Autosomal dominant spondylocostal dysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	2034446	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant spondylocostal dysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	4392587	\N	\N	EFO	6	EFO	disease	Autosomal dominant spondylocostal dysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	3184959	\N	\N	EFO	5	EFO	skeletal system disease	Autosomal dominant spondylocostal dysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	3184960	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant spondylocostal dysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	5181787	\N	\N	EFO	7	EFO	disposition	Autosomal dominant spondylocostal dysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	4392586	\N	\N	EFO	6	EFO	disease	Autosomal dominant spondylocostal dysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	5997168	\N	\N	EFO	8	EFO	material property	Autosomal dominant spondylocostal dysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1797	"Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." []	6550686	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant spondylocostal dysostosis
Orphanet:1798	\N	\N	"" []	Orphanet:1798	"" []	74099	\N	\N	EFO	0	EFO	Dysostosis, Stanescu type	Dysostosis, Stanescu type
Orphanet:93444	Orphanet:1798	\N	"" []	Orphanet:1798	"" []	215820	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Dysostosis, Stanescu type
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:1798	"" []	570074	\N	\N	EFO	2	EFO	Primary bone dysplasia	Dysostosis, Stanescu type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1798	"" []	1151989	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dysostosis, Stanescu type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1798	"" []	1151990	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dysostosis, Stanescu type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1798	"" []	2034447	\N	\N	EFO	4	EFO	genetic disorder	Dysostosis, Stanescu type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1798	"" []	2034448	\N	\N	EFO	4	EFO	bone disease	Dysostosis, Stanescu type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1798	"" []	2034449	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dysostosis, Stanescu type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1798	"" []	4392590	\N	\N	EFO	6	EFO	disease	Dysostosis, Stanescu type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1798	"" []	3184962	\N	\N	EFO	5	EFO	skeletal system disease	Dysostosis, Stanescu type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1798	"" []	3184963	\N	\N	EFO	5	EFO	genetic disorder	Dysostosis, Stanescu type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1798	"" []	5181788	\N	\N	EFO	7	EFO	disposition	Dysostosis, Stanescu type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1798	"" []	4392589	\N	\N	EFO	6	EFO	disease	Dysostosis, Stanescu type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1798	"" []	5997169	\N	\N	EFO	8	EFO	material property	Dysostosis, Stanescu type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1798	"" []	6550687	\N	\N	EFO	9	EFO	experimental factor	Dysostosis, Stanescu type
Orphanet:18	\N	\N	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	Orphanet:18	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	74100	\N	\N	EFO	0	EFO	Distal renal tubular acidosis	Distal renal tubular acidosis
Orphanet:314822	Orphanet:18	\N	"" []	Orphanet:18	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	215821	\N	\N	EFO	1	EFO	Primary renal tubular acidosis	Distal renal tubular acidosis
Orphanet:183592	Orphanet:314822	\N	"" []	Orphanet:18	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	570075	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Distal renal tubular acidosis
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:18	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	1151991	\N	\N	EFO	3	EFO	Rare genetic renal disease	Distal renal tubular acidosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:18	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	2034450	\N	\N	EFO	4	EFO	genetic disorder	Distal renal tubular acidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:18	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	3184964	\N	\N	EFO	5	EFO	disease	Distal renal tubular acidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:18	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	4392591	\N	\N	EFO	6	EFO	disposition	Distal renal tubular acidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:18	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	5411337	\N	\N	EFO	7	EFO	material property	Distal renal tubular acidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:18	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	6148694	\N	\N	EFO	8	EFO	experimental factor	Distal renal tubular acidosis
Orphanet:180	\N	\N	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	Orphanet:180	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	74101	\N	\N	EFO	0	EFO	Choroideremia	Choroideremia
Orphanet:98662	Orphanet:180	\N	"" []	Orphanet:180	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	215822	\N	\N	EFO	1	EFO	Unclassified familial retinal dystrophy	Choroideremia
Orphanet:71862	Orphanet:98662	\N	"" []	Orphanet:180	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	570076	\N	\N	EFO	2	EFO	Retinal dystrophy	Choroideremia
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:180	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	1151992	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Choroideremia
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:180	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	2034451	\N	\N	EFO	4	EFO	Rare genetic eye disease	Choroideremia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:180	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	3184965	\N	\N	EFO	5	EFO	genetic disorder	Choroideremia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:180	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	3184966	\N	\N	EFO	5	EFO	eye disease	Choroideremia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:180	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	4392592	\N	\N	EFO	6	EFO	disease	Choroideremia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:180	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	4392593	\N	\N	EFO	6	EFO	disease	Choroideremia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:180	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	5411338	\N	\N	EFO	7	EFO	disposition	Choroideremia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:180	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	6148695	\N	\N	EFO	8	EFO	material property	Choroideremia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:180	"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." []	6632351	\N	\N	EFO	9	EFO	experimental factor	Choroideremia
Orphanet:180068	\N	\N	"" []	Orphanet:180068	"" []	74102	\N	\N	EFO	0	EFO	Partial bilateral aplasia of the Mllerian ducts	Partial bilateral aplasia of the Mllerian ducts
Orphanet:73217	Orphanet:180068	\N	"" []	Orphanet:180068	"" []	215823	\N	\N	EFO	1	EFO	Mllerian aplasia	Partial bilateral aplasia of the Mllerian ducts
Orphanet:156622	Orphanet:73217	\N	"" []	Orphanet:180068	"" []	570077	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Partial bilateral aplasia of the Mllerian ducts
Orphanet:183731	Orphanet:73217	\N	"" []	Orphanet:180068	"" []	570078	\N	\N	EFO	2	EFO	Rare genetic gynecological and obstetrical diseases	Partial bilateral aplasia of the Mllerian ducts
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:180068	"" []	1151993	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Partial bilateral aplasia of the Mllerian ducts
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:180068	"" []	1151994	\N	\N	EFO	3	EFO	genetic disorder	Partial bilateral aplasia of the Mllerian ducts
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:180068	"" []	1151995	\N	\N	EFO	3	EFO	reproductive system disease	Partial bilateral aplasia of the Mllerian ducts
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:180068	"" []	2034452	\N	\N	EFO	4	EFO	genetic disorder	Partial bilateral aplasia of the Mllerian ducts
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:180068	"" []	3184967	\N	\N	EFO	5	EFO	disease	Partial bilateral aplasia of the Mllerian ducts
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:180068	"" []	2034454	\N	\N	EFO	4	EFO	disease	Partial bilateral aplasia of the Mllerian ducts
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:180068	"" []	4133406	\N	\N	EFO	6	EFO	disposition	Partial bilateral aplasia of the Mllerian ducts
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:180068	"" []	5181789	\N	\N	EFO	7	EFO	material property	Partial bilateral aplasia of the Mllerian ducts
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:180068	"" []	5997170	\N	\N	EFO	8	EFO	experimental factor	Partial bilateral aplasia of the Mllerian ducts
Orphanet:180071	\N	\N	"" []	Orphanet:180071	"" []	74103	\N	\N	EFO	0	EFO	Unilateral aplasia of the Mllerian ducts	Unilateral aplasia of the Mllerian ducts
Orphanet:73217	Orphanet:180071	\N	"" []	Orphanet:180071	"" []	215824	\N	\N	EFO	1	EFO	Mllerian aplasia	Unilateral aplasia of the Mllerian ducts
Orphanet:156622	Orphanet:73217	\N	"" []	Orphanet:180071	"" []	570079	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Unilateral aplasia of the Mllerian ducts
Orphanet:183731	Orphanet:73217	\N	"" []	Orphanet:180071	"" []	570080	\N	\N	EFO	2	EFO	Rare genetic gynecological and obstetrical diseases	Unilateral aplasia of the Mllerian ducts
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:180071	"" []	1151996	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Unilateral aplasia of the Mllerian ducts
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:180071	"" []	1151997	\N	\N	EFO	3	EFO	genetic disorder	Unilateral aplasia of the Mllerian ducts
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:180071	"" []	1151998	\N	\N	EFO	3	EFO	reproductive system disease	Unilateral aplasia of the Mllerian ducts
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:180071	"" []	2034455	\N	\N	EFO	4	EFO	genetic disorder	Unilateral aplasia of the Mllerian ducts
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:180071	"" []	3184969	\N	\N	EFO	5	EFO	disease	Unilateral aplasia of the Mllerian ducts
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:180071	"" []	2034457	\N	\N	EFO	4	EFO	disease	Unilateral aplasia of the Mllerian ducts
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:180071	"" []	4133407	\N	\N	EFO	6	EFO	disposition	Unilateral aplasia of the Mllerian ducts
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:180071	"" []	5181790	\N	\N	EFO	7	EFO	material property	Unilateral aplasia of the Mllerian ducts
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:180071	"" []	5997171	\N	\N	EFO	8	EFO	experimental factor	Unilateral aplasia of the Mllerian ducts
Orphanet:180074	\N	\N	"" []	Orphanet:180074	"" []	74104	\N	\N	EFO	0	EFO	True unicornuate uterus	True unicornuate uterus
Orphanet:180071	Orphanet:180074	\N	"" []	Orphanet:180074	"" []	215825	\N	\N	EFO	1	EFO	Unilateral aplasia of the Mllerian ducts	True unicornuate uterus
Orphanet:73217	Orphanet:180071	\N	"" []	Orphanet:180074	"" []	570081	\N	\N	EFO	2	EFO	Mllerian aplasia	True unicornuate uterus
Orphanet:156622	Orphanet:73217	\N	"" []	Orphanet:180074	"" []	1151999	\N	\N	EFO	3	EFO	Genetic urogenital tract malformation	True unicornuate uterus
Orphanet:183731	Orphanet:73217	\N	"" []	Orphanet:180074	"" []	1152000	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	True unicornuate uterus
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:180074	"" []	2034458	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	True unicornuate uterus
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:180074	"" []	2034459	\N	\N	EFO	4	EFO	genetic disorder	True unicornuate uterus
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:180074	"" []	2034460	\N	\N	EFO	4	EFO	reproductive system disease	True unicornuate uterus
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:180074	"" []	3184971	\N	\N	EFO	5	EFO	genetic disorder	True unicornuate uterus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:180074	"" []	4392596	\N	\N	EFO	6	EFO	disease	True unicornuate uterus
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:180074	"" []	3184973	\N	\N	EFO	5	EFO	disease	True unicornuate uterus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:180074	"" []	5181791	\N	\N	EFO	7	EFO	disposition	True unicornuate uterus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:180074	"" []	5997172	\N	\N	EFO	8	EFO	material property	True unicornuate uterus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:180074	"" []	6550688	\N	\N	EFO	9	EFO	experimental factor	True unicornuate uterus
Orphanet:180079	\N	\N	"" []	Orphanet:180079	"" []	74105	\N	\N	EFO	0	EFO	Pseudounicornuate uterus	Pseudounicornuate uterus
Orphanet:180071	Orphanet:180079	\N	"" []	Orphanet:180079	"" []	215826	\N	\N	EFO	1	EFO	Unilateral aplasia of the Mllerian ducts	Pseudounicornuate uterus
Orphanet:73217	Orphanet:180071	\N	"" []	Orphanet:180079	"" []	570082	\N	\N	EFO	2	EFO	Mllerian aplasia	Pseudounicornuate uterus
Orphanet:156622	Orphanet:73217	\N	"" []	Orphanet:180079	"" []	1152001	\N	\N	EFO	3	EFO	Genetic urogenital tract malformation	Pseudounicornuate uterus
Orphanet:183731	Orphanet:73217	\N	"" []	Orphanet:180079	"" []	1152002	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Pseudounicornuate uterus
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:180079	"" []	2034461	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Pseudounicornuate uterus
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:180079	"" []	2034462	\N	\N	EFO	4	EFO	genetic disorder	Pseudounicornuate uterus
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:180079	"" []	2034463	\N	\N	EFO	4	EFO	reproductive system disease	Pseudounicornuate uterus
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:180079	"" []	3184974	\N	\N	EFO	5	EFO	genetic disorder	Pseudounicornuate uterus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:180079	"" []	4392598	\N	\N	EFO	6	EFO	disease	Pseudounicornuate uterus
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:180079	"" []	3184976	\N	\N	EFO	5	EFO	disease	Pseudounicornuate uterus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:180079	"" []	5181792	\N	\N	EFO	7	EFO	disposition	Pseudounicornuate uterus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:180079	"" []	5997173	\N	\N	EFO	8	EFO	material property	Pseudounicornuate uterus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:180079	"" []	6550689	\N	\N	EFO	9	EFO	experimental factor	Pseudounicornuate uterus
Orphanet:1801	\N	\N	"" []	Orphanet:1801	"" []	74106	\N	\N	EFO	0	EFO	Kyphomelic dysplasia	Kyphomelic dysplasia
Orphanet:93439	Orphanet:1801	\N	"" []	Orphanet:1801	"" []	215827	\N	\N	EFO	1	EFO	Bent bone dysplasia	Kyphomelic dysplasia
Orphanet:364526	Orphanet:93439	\N	"" []	Orphanet:1801	"" []	570083	\N	\N	EFO	2	EFO	Primary bone dysplasia	Kyphomelic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1801	"" []	1152003	\N	\N	EFO	3	EFO	Rare genetic bone disease	Kyphomelic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1801	"" []	1152004	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Kyphomelic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1801	"" []	2034464	\N	\N	EFO	4	EFO	genetic disorder	Kyphomelic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1801	"" []	2034465	\N	\N	EFO	4	EFO	bone disease	Kyphomelic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1801	"" []	2034466	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Kyphomelic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1801	"" []	4392602	\N	\N	EFO	6	EFO	disease	Kyphomelic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1801	"" []	3184978	\N	\N	EFO	5	EFO	skeletal system disease	Kyphomelic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1801	"" []	3184979	\N	\N	EFO	5	EFO	genetic disorder	Kyphomelic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1801	"" []	5181793	\N	\N	EFO	7	EFO	disposition	Kyphomelic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1801	"" []	4392601	\N	\N	EFO	6	EFO	disease	Kyphomelic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1801	"" []	5997174	\N	\N	EFO	8	EFO	material property	Kyphomelic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1801	"" []	6550690	\N	\N	EFO	9	EFO	experimental factor	Kyphomelic dysplasia
Orphanet:1802	\N	\N	"" []	Orphanet:1802	"" []	74107	\N	\N	EFO	0	EFO	Ghosal hematodiaphyseal dysplasia	Ghosal hematodiaphyseal dysplasia
EFO:0005803	Orphanet:1802	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:1802	"" []	215828	\N	\N	EFO	1	EFO	hematological system disease	Ghosal hematodiaphyseal dysplasia
Orphanet:93444	Orphanet:1802	\N	"" []	Orphanet:1802	"" []	215829	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Ghosal hematodiaphyseal dysplasia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1802	"" []	570084	\N	\N	EFO	2	EFO	disease	Ghosal hematodiaphyseal dysplasia
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:1802	"" []	570085	\N	\N	EFO	2	EFO	Primary bone dysplasia	Ghosal hematodiaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1802	"" []	5181794	\N	\N	EFO	7	EFO	disposition	Ghosal hematodiaphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1802	"" []	1152006	\N	\N	EFO	3	EFO	Rare genetic bone disease	Ghosal hematodiaphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1802	"" []	1152007	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Ghosal hematodiaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1802	"" []	5801842	\N	\N	EFO	8	EFO	material property	Ghosal hematodiaphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1802	"" []	2034468	\N	\N	EFO	4	EFO	genetic disorder	Ghosal hematodiaphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1802	"" []	2034469	\N	\N	EFO	4	EFO	bone disease	Ghosal hematodiaphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1802	"" []	2034470	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ghosal hematodiaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1802	"" []	6378827	\N	\N	EFO	9	EFO	experimental factor	Ghosal hematodiaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1802	"" []	4392605	\N	\N	EFO	6	EFO	disease	Ghosal hematodiaphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1802	"" []	3184982	\N	\N	EFO	5	EFO	skeletal system disease	Ghosal hematodiaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1802	"" []	3184983	\N	\N	EFO	5	EFO	genetic disorder	Ghosal hematodiaphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1802	"" []	4392604	\N	\N	EFO	6	EFO	disease	Ghosal hematodiaphyseal dysplasia
Orphanet:1803	\N	\N	"" []	Orphanet:1803	"" []	74108	\N	\N	EFO	0	EFO	Thoracomelic dysplasia	Thoracomelic dysplasia
Orphanet:93426	Orphanet:1803	\N	"" []	Orphanet:1803	"" []	215830	\N	\N	EFO	1	EFO	Short rib dysplasia	Thoracomelic dysplasia
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:1803	"" []	570086	\N	\N	EFO	2	EFO	Primary bone dysplasia	Thoracomelic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1803	"" []	1152008	\N	\N	EFO	3	EFO	Rare genetic bone disease	Thoracomelic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1803	"" []	1152009	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Thoracomelic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1803	"" []	2034471	\N	\N	EFO	4	EFO	genetic disorder	Thoracomelic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1803	"" []	2034472	\N	\N	EFO	4	EFO	bone disease	Thoracomelic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1803	"" []	2034473	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Thoracomelic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1803	"" []	4392608	\N	\N	EFO	6	EFO	disease	Thoracomelic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1803	"" []	3184985	\N	\N	EFO	5	EFO	skeletal system disease	Thoracomelic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1803	"" []	3184986	\N	\N	EFO	5	EFO	genetic disorder	Thoracomelic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1803	"" []	5181795	\N	\N	EFO	7	EFO	disposition	Thoracomelic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1803	"" []	4392607	\N	\N	EFO	6	EFO	disease	Thoracomelic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1803	"" []	5997175	\N	\N	EFO	8	EFO	material property	Thoracomelic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1803	"" []	6550691	\N	\N	EFO	9	EFO	experimental factor	Thoracomelic dysplasia
Orphanet:1804	\N	\N	"" []	Orphanet:1804	"" []	74109	\N	\N	EFO	0	EFO	Dyssegmental dysplasia - glaucoma	Dyssegmental dysplasia - glaucoma
Orphanet:108985	Orphanet:1804	\N	"" []	Orphanet:1804	"" []	215831	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Dyssegmental dysplasia - glaucoma
Orphanet:98638	Orphanet:1804	\N	"" []	Orphanet:1804	"" []	215832	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Dyssegmental dysplasia - glaucoma
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:1804	"" []	570087	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Dyssegmental dysplasia - glaucoma
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:1804	"" []	570088	\N	\N	EFO	2	EFO	Rare genetic eye disease	Dyssegmental dysplasia - glaucoma
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:1804	"" []	1152010	\N	\N	EFO	3	EFO	Rare genetic eye disease	Dyssegmental dysplasia - glaucoma
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:1804	"" []	1152011	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dyssegmental dysplasia - glaucoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1804	"" []	2034474	\N	\N	EFO	4	EFO	genetic disorder	Dyssegmental dysplasia - glaucoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1804	"" []	2034475	\N	\N	EFO	4	EFO	eye disease	Dyssegmental dysplasia - glaucoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1804	"" []	2034476	\N	\N	EFO	4	EFO	genetic disorder	Dyssegmental dysplasia - glaucoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1804	"" []	3000165	\N	\N	EFO	5	EFO	disease	Dyssegmental dysplasia - glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1804	"" []	3000166	\N	\N	EFO	5	EFO	disease	Dyssegmental dysplasia - glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1804	"" []	4133408	\N	\N	EFO	6	EFO	disposition	Dyssegmental dysplasia - glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1804	"" []	5181796	\N	\N	EFO	7	EFO	material property	Dyssegmental dysplasia - glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1804	"" []	5997176	\N	\N	EFO	8	EFO	experimental factor	Dyssegmental dysplasia - glaucoma
Orphanet:1806	\N	\N	"" []	Orphanet:1806	"" []	74110	\N	\N	EFO	0	EFO	Ectodermal dysplasia - blindness	Ectodermal dysplasia - blindness
Orphanet:79373	Orphanet:1806	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1806	"" []	215833	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ectodermal dysplasia - blindness
Orphanet:98709	Orphanet:1806	\N	"" []	Orphanet:1806	"" []	215834	\N	\N	EFO	1	EFO	Ectodermal malformation syndrome associated with ocular features	Ectodermal dysplasia - blindness
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1806	"" []	570089	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ectodermal dysplasia - blindness
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1806	"" []	570090	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ectodermal dysplasia - blindness
Orphanet:101435	Orphanet:98709	\N	"" []	Orphanet:1806	"" []	570091	\N	\N	EFO	2	EFO	Rare genetic eye disease	Ectodermal dysplasia - blindness
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1806	"" []	1152014	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia - blindness
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1806	"" []	1152015	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ectodermal dysplasia - blindness
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1806	"" []	1152016	\N	\N	EFO	3	EFO	genetic disorder	Ectodermal dysplasia - blindness
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1806	"" []	1152017	\N	\N	EFO	3	EFO	eye disease	Ectodermal dysplasia - blindness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1806	"" []	2034479	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia - blindness
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1806	"" []	2034480	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia - blindness
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1806	"" []	2034481	\N	\N	EFO	4	EFO	skin disease	Ectodermal dysplasia - blindness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1806	"" []	3184988	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia - blindness
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1806	"" []	2034483	\N	\N	EFO	4	EFO	disease	Ectodermal dysplasia - blindness
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1806	"" []	3184989	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia - blindness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1806	"" []	4133409	\N	\N	EFO	6	EFO	disposition	Ectodermal dysplasia - blindness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1806	"" []	5181797	\N	\N	EFO	7	EFO	material property	Ectodermal dysplasia - blindness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1806	"" []	5997177	\N	\N	EFO	8	EFO	experimental factor	Ectodermal dysplasia - blindness
Orphanet:1807	\N	\N	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	74111	\N	\N	EFO	0	EFO	Focal facial dermal dysplasia type III	Focal facial dermal dysplasia type III
Orphanet:398166	Orphanet:1807	\N	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	215835	\N	\N	EFO	1	EFO	Focal facial dermal dysplasia	Focal facial dermal dysplasia type III
Orphanet:79373	Orphanet:398166	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	570092	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Focal facial dermal dysplasia type III
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	1152018	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Focal facial dermal dysplasia type III
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	1152019	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Focal facial dermal dysplasia type III
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	2034484	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Focal facial dermal dysplasia type III
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	2034485	\N	\N	EFO	4	EFO	Rare genetic skin disease	Focal facial dermal dysplasia type III
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	3184991	\N	\N	EFO	5	EFO	genetic disorder	Focal facial dermal dysplasia type III
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	3184992	\N	\N	EFO	5	EFO	genetic disorder	Focal facial dermal dysplasia type III
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	3184993	\N	\N	EFO	5	EFO	skin disease	Focal facial dermal dysplasia type III
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	4392611	\N	\N	EFO	6	EFO	disease	Focal facial dermal dysplasia type III
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	4392612	\N	\N	EFO	6	EFO	disease	Focal facial dermal dysplasia type III
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	5411347	\N	\N	EFO	7	EFO	disposition	Focal facial dermal dysplasia type III
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	6148700	\N	\N	EFO	8	EFO	material property	Focal facial dermal dysplasia type III
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1807	"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." []	6632352	\N	\N	EFO	9	EFO	experimental factor	Focal facial dermal dysplasia type III
Orphanet:180766	\N	\N	"" []	Orphanet:180766	"" []	74112	\N	\N	EFO	0	EFO	Malformative syndrome with dentinogenesis imperfecta	Malformative syndrome with dentinogenesis imperfecta
Orphanet:77830	Orphanet:180766	\N	"" []	Orphanet:180766	"" []	215836	\N	\N	EFO	1	EFO	Rare genetic odontologic disease	Malformative syndrome with dentinogenesis imperfecta
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:180766	"" []	570093	\N	\N	EFO	2	EFO	genetic disorder	Malformative syndrome with dentinogenesis imperfecta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:180766	"" []	1152020	\N	\N	EFO	3	EFO	disease	Malformative syndrome with dentinogenesis imperfecta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:180766	"" []	2034486	\N	\N	EFO	4	EFO	disposition	Malformative syndrome with dentinogenesis imperfecta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:180766	"" []	3184994	\N	\N	EFO	5	EFO	material property	Malformative syndrome with dentinogenesis imperfecta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:180766	"" []	4392613	\N	\N	EFO	6	EFO	experimental factor	Malformative syndrome with dentinogenesis imperfecta
Orphanet:180772	\N	\N	"" []	Orphanet:180772	"" []	74113	\N	\N	EFO	0	EFO	Rare disease with autism	Rare disease with autism
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:180772	"" []	215837	\N	\N	EFO	1	EFO	Rare pervasive developmental disorder	Rare disease with autism
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:180772	"" []	570094	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Rare disease with autism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:180772	"" []	1152021	\N	\N	EFO	3	EFO	genetic disorder	Rare disease with autism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:180772	"" []	2034487	\N	\N	EFO	4	EFO	disease	Rare disease with autism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:180772	"" []	3184995	\N	\N	EFO	5	EFO	disposition	Rare disease with autism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:180772	"" []	4392614	\N	\N	EFO	6	EFO	material property	Rare disease with autism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:180772	"" []	5411348	\N	\N	EFO	7	EFO	experimental factor	Rare disease with autism
Orphanet:1808	\N	\N	"" []	Orphanet:1808	"" []	74114	\N	\N	EFO	0	EFO	Hidrotic ectodermal dysplasia, Christianson-Fourie type	Hidrotic ectodermal dysplasia, Christianson-Fourie type
Orphanet:79373	Orphanet:1808	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1808	"" []	215838	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Hidrotic ectodermal dysplasia, Christianson-Fourie type
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1808	"" []	570095	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Hidrotic ectodermal dysplasia, Christianson-Fourie type
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1808	"" []	570096	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Hidrotic ectodermal dysplasia, Christianson-Fourie type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1808	"" []	1152022	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hidrotic ectodermal dysplasia, Christianson-Fourie type
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1808	"" []	1152023	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hidrotic ectodermal dysplasia, Christianson-Fourie type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1808	"" []	2034488	\N	\N	EFO	4	EFO	genetic disorder	Hidrotic ectodermal dysplasia, Christianson-Fourie type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1808	"" []	2034489	\N	\N	EFO	4	EFO	genetic disorder	Hidrotic ectodermal dysplasia, Christianson-Fourie type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1808	"" []	2034490	\N	\N	EFO	4	EFO	skin disease	Hidrotic ectodermal dysplasia, Christianson-Fourie type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1808	"" []	3184996	\N	\N	EFO	5	EFO	disease	Hidrotic ectodermal dysplasia, Christianson-Fourie type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1808	"" []	3184997	\N	\N	EFO	5	EFO	disease	Hidrotic ectodermal dysplasia, Christianson-Fourie type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1808	"" []	4392615	\N	\N	EFO	6	EFO	disposition	Hidrotic ectodermal dysplasia, Christianson-Fourie type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1808	"" []	5411349	\N	\N	EFO	7	EFO	material property	Hidrotic ectodermal dysplasia, Christianson-Fourie type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1808	"" []	6148701	\N	\N	EFO	8	EFO	experimental factor	Hidrotic ectodermal dysplasia, Christianson-Fourie type
Orphanet:1809	\N	\N	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	74115	\N	\N	EFO	0	EFO	Hidrotic ectodermal dysplasia, Halal type	Hidrotic ectodermal dysplasia, Halal type
Orphanet:79373	Orphanet:1809	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	215839	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Hidrotic ectodermal dysplasia, Halal type
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	570097	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Hidrotic ectodermal dysplasia, Halal type
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	570098	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Hidrotic ectodermal dysplasia, Halal type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	1152024	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hidrotic ectodermal dysplasia, Halal type
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	1152025	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hidrotic ectodermal dysplasia, Halal type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	2034491	\N	\N	EFO	4	EFO	genetic disorder	Hidrotic ectodermal dysplasia, Halal type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	2034492	\N	\N	EFO	4	EFO	genetic disorder	Hidrotic ectodermal dysplasia, Halal type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	2034493	\N	\N	EFO	4	EFO	skin disease	Hidrotic ectodermal dysplasia, Halal type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	3184998	\N	\N	EFO	5	EFO	disease	Hidrotic ectodermal dysplasia, Halal type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	3184999	\N	\N	EFO	5	EFO	disease	Hidrotic ectodermal dysplasia, Halal type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	4392616	\N	\N	EFO	6	EFO	disposition	Hidrotic ectodermal dysplasia, Halal type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	5411350	\N	\N	EFO	7	EFO	material property	Hidrotic ectodermal dysplasia, Halal type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1809	"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, caf-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." []	6148702	\N	\N	EFO	8	EFO	experimental factor	Hidrotic ectodermal dysplasia, Halal type
Orphanet:181	\N	\N	"" []	Orphanet:181	"" []	74116	\N	\N	EFO	0	EFO	X-linked hypohidrotic ectodermal dysplasia	X-linked hypohidrotic ectodermal dysplasia
Orphanet:238468	Orphanet:181	\N	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	Orphanet:181	"" []	215840	\N	\N	EFO	1	EFO	Hypohidrotic ectodermal dysplasia	X-linked hypohidrotic ectodermal dysplasia
EFO:0004198	Orphanet:238468	\N	"Tumors or cancer of the SKIN." []	Orphanet:181	"" []	570099	\N	\N	EFO	2	EFO	skin neoplasm	X-linked hypohidrotic ectodermal dysplasia
Orphanet:79373	Orphanet:238468	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:181	"" []	570100	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	X-linked hypohidrotic ectodermal dysplasia
Orphanet:98604	Orphanet:238468	\N	"" []	Orphanet:181	"" []	570101	\N	\N	EFO	2	EFO	Congenital alacrima	X-linked hypohidrotic ectodermal dysplasia
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:181	"" []	1152026	\N	\N	EFO	3	EFO	neoplasm	X-linked hypohidrotic ectodermal dysplasia
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:181	"" []	1152027	\N	\N	EFO	3	EFO	skin disease	X-linked hypohidrotic ectodermal dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:181	"" []	1152028	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	X-linked hypohidrotic ectodermal dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:181	"" []	1152029	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	X-linked hypohidrotic ectodermal dysplasia
Orphanet:98603	Orphanet:98604	\N	"" []	Orphanet:181	"" []	1152030	\N	\N	EFO	3	EFO	Secretory apparatus of the lacrimal system anomaly	X-linked hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181	"" []	2034494	\N	\N	EFO	4	EFO	disease	X-linked hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181	"" []	4392619	\N	\N	EFO	6	EFO	disease	X-linked hypohidrotic ectodermal dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:181	"" []	2034496	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked hypohidrotic ectodermal dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:181	"" []	2034497	\N	\N	EFO	4	EFO	Rare genetic skin disease	X-linked hypohidrotic ectodermal dysplasia
Orphanet:98602	Orphanet:98603	\N	"" []	Orphanet:181	"" []	2034498	\N	\N	EFO	4	EFO	Rare lacrimal system disease	X-linked hypohidrotic ectodermal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181	"" []	6470083	\N	\N	EFO	9	EFO	disposition	X-linked hypohidrotic ectodermal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181	"" []	3185001	\N	\N	EFO	5	EFO	genetic disorder	X-linked hypohidrotic ectodermal dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181	"" []	3185002	\N	\N	EFO	5	EFO	genetic disorder	X-linked hypohidrotic ectodermal dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:181	"" []	3185003	\N	\N	EFO	5	EFO	skin disease	X-linked hypohidrotic ectodermal dysplasia
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:181	"" []	3185004	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	X-linked hypohidrotic ectodermal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181	"" []	6778622	\N	\N	EFO	10	EFO	material property	X-linked hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181	"" []	6148703	\N	\N	EFO	8	EFO	disease	X-linked hypohidrotic ectodermal dysplasia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:181	"" []	4392620	\N	\N	EFO	6	EFO	Rare genetic eye disease	X-linked hypohidrotic ectodermal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181	"" []	7029837	\N	\N	EFO	11	EFO	experimental factor	X-linked hypohidrotic ectodermal dysplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181	"" []	5411352	\N	\N	EFO	7	EFO	genetic disorder	X-linked hypohidrotic ectodermal dysplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:181	"" []	5411353	\N	\N	EFO	7	EFO	eye disease	X-linked hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181	"" []	6148704	\N	\N	EFO	8	EFO	disease	X-linked hypohidrotic ectodermal dysplasia
Orphanet:1810	\N	\N	"" []	Orphanet:1810	"" []	74117	\N	\N	EFO	0	EFO	Autosomal dominant hypohidrotic ectodermal dysplasia	Autosomal dominant hypohidrotic ectodermal dysplasia
Orphanet:238468	Orphanet:1810	\N	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	Orphanet:1810	"" []	215841	\N	\N	EFO	1	EFO	Hypohidrotic ectodermal dysplasia	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0004198	Orphanet:238468	\N	"Tumors or cancer of the SKIN." []	Orphanet:1810	"" []	570102	\N	\N	EFO	2	EFO	skin neoplasm	Autosomal dominant hypohidrotic ectodermal dysplasia
Orphanet:79373	Orphanet:238468	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1810	"" []	570103	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Autosomal dominant hypohidrotic ectodermal dysplasia
Orphanet:98604	Orphanet:238468	\N	"" []	Orphanet:1810	"" []	570104	\N	\N	EFO	2	EFO	Congenital alacrima	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:1810	"" []	1152031	\N	\N	EFO	3	EFO	neoplasm	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1810	"" []	1152032	\N	\N	EFO	3	EFO	skin disease	Autosomal dominant hypohidrotic ectodermal dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1810	"" []	1152033	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Autosomal dominant hypohidrotic ectodermal dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1810	"" []	1152034	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Autosomal dominant hypohidrotic ectodermal dysplasia
Orphanet:98603	Orphanet:98604	\N	"" []	Orphanet:1810	"" []	1152035	\N	\N	EFO	3	EFO	Secretory apparatus of the lacrimal system anomaly	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1810	"" []	2034499	\N	\N	EFO	4	EFO	disease	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1810	"" []	4392623	\N	\N	EFO	6	EFO	disease	Autosomal dominant hypohidrotic ectodermal dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1810	"" []	2034501	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant hypohidrotic ectodermal dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1810	"" []	2034502	\N	\N	EFO	4	EFO	Rare genetic skin disease	Autosomal dominant hypohidrotic ectodermal dysplasia
Orphanet:98602	Orphanet:98603	\N	"" []	Orphanet:1810	"" []	2034503	\N	\N	EFO	4	EFO	Rare lacrimal system disease	Autosomal dominant hypohidrotic ectodermal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1810	"" []	6470085	\N	\N	EFO	9	EFO	disposition	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1810	"" []	3185006	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1810	"" []	3185007	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1810	"" []	3185008	\N	\N	EFO	5	EFO	skin disease	Autosomal dominant hypohidrotic ectodermal dysplasia
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:1810	"" []	3185009	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Autosomal dominant hypohidrotic ectodermal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1810	"" []	6778623	\N	\N	EFO	10	EFO	material property	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1810	"" []	6148705	\N	\N	EFO	8	EFO	disease	Autosomal dominant hypohidrotic ectodermal dysplasia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1810	"" []	4392624	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1810	"" []	7029838	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1810	"" []	5411355	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1810	"" []	5411356	\N	\N	EFO	7	EFO	eye disease	Autosomal dominant hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1810	"" []	6148706	\N	\N	EFO	8	EFO	disease	Autosomal dominant hypohidrotic ectodermal dysplasia
Orphanet:1811	\N	\N	"" []	Orphanet:1811	"" []	74118	\N	\N	EFO	0	EFO	Odontomicronychial dysplasia	Odontomicronychial dysplasia
Orphanet:79370	Orphanet:1811	\N	"" []	Orphanet:1811	"" []	215842	\N	\N	EFO	1	EFO	Syndromic nail anomaly	Odontomicronychial dysplasia
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:1811	"" []	570105	\N	\N	EFO	2	EFO	Genetic nail anomaly	Odontomicronychial dysplasia
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:1811	"" []	1152036	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Odontomicronychial dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1811	"" []	2034504	\N	\N	EFO	4	EFO	Rare genetic skin disease	Odontomicronychial dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1811	"" []	3185010	\N	\N	EFO	5	EFO	genetic disorder	Odontomicronychial dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1811	"" []	3185011	\N	\N	EFO	5	EFO	skin disease	Odontomicronychial dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1811	"" []	4392625	\N	\N	EFO	6	EFO	disease	Odontomicronychial dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1811	"" []	4392626	\N	\N	EFO	6	EFO	disease	Odontomicronychial dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1811	"" []	5411357	\N	\N	EFO	7	EFO	disposition	Odontomicronychial dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1811	"" []	6148707	\N	\N	EFO	8	EFO	material property	Odontomicronychial dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1811	"" []	6632353	\N	\N	EFO	9	EFO	experimental factor	Odontomicronychial dysplasia
Orphanet:1812	\N	\N	"" []	Orphanet:1812	"" []	74119	\N	\N	EFO	0	EFO	Ectodermal dysplasia - intellectual disability - central nervous system malformation	Ectodermal dysplasia - intellectual disability - central nervous system malformation
Orphanet:79373	Orphanet:1812	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1812	"" []	215843	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ectodermal dysplasia - intellectual disability - central nervous system malformation
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1812	"" []	570106	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ectodermal dysplasia - intellectual disability - central nervous system malformation
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1812	"" []	570107	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ectodermal dysplasia - intellectual disability - central nervous system malformation
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1812	"" []	1152037	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia - intellectual disability - central nervous system malformation
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1812	"" []	1152038	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ectodermal dysplasia - intellectual disability - central nervous system malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1812	"" []	2034505	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia - intellectual disability - central nervous system malformation
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1812	"" []	2034506	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia - intellectual disability - central nervous system malformation
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1812	"" []	2034507	\N	\N	EFO	4	EFO	skin disease	Ectodermal dysplasia - intellectual disability - central nervous system malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1812	"" []	3185012	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia - intellectual disability - central nervous system malformation
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1812	"" []	3185013	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia - intellectual disability - central nervous system malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1812	"" []	4392627	\N	\N	EFO	6	EFO	disposition	Ectodermal dysplasia - intellectual disability - central nervous system malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1812	"" []	5411358	\N	\N	EFO	7	EFO	material property	Ectodermal dysplasia - intellectual disability - central nervous system malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1812	"" []	6148708	\N	\N	EFO	8	EFO	experimental factor	Ectodermal dysplasia - intellectual disability - central nervous system malformation
Orphanet:181368	\N	\N	"" []	Orphanet:181368	"" []	74120	\N	\N	EFO	0	EFO	Rare insulin-resistance syndrome	Rare insulin-resistance syndrome
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:181368	"" []	215844	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Rare insulin-resistance syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:181368	"" []	570108	\N	\N	EFO	2	EFO	diabetes mellitus	Rare insulin-resistance syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:181368	"" []	570109	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Rare insulin-resistance syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:181368	"" []	1152039	\N	\N	EFO	3	EFO	metabolic disease	Rare insulin-resistance syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181368	"" []	1152040	\N	\N	EFO	3	EFO	genetic disorder	Rare insulin-resistance syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181368	"" []	1152041	\N	\N	EFO	3	EFO	endocrine system disease	Rare insulin-resistance syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181368	"" []	2034508	\N	\N	EFO	4	EFO	disease	Rare insulin-resistance syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181368	"" []	2034509	\N	\N	EFO	4	EFO	disease	Rare insulin-resistance syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181368	"" []	2034510	\N	\N	EFO	4	EFO	disease	Rare insulin-resistance syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181368	"" []	3185014	\N	\N	EFO	5	EFO	disposition	Rare insulin-resistance syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181368	"" []	4392628	\N	\N	EFO	6	EFO	material property	Rare insulin-resistance syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181368	"" []	5411359	\N	\N	EFO	7	EFO	experimental factor	Rare insulin-resistance syndrome
Orphanet:181387	\N	\N	"" []	Orphanet:181387	"" []	74121	\N	\N	EFO	0	EFO	Rare disorder with hypogonadotropic hypogonadism	Rare disorder with hypogonadotropic hypogonadism
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:181387	"" []	215845	\N	\N	EFO	1	EFO	Congenital hypogonadotropic hypogonadism	Rare disorder with hypogonadotropic hypogonadism
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:181387	"" []	570110	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Rare disorder with hypogonadotropic hypogonadism
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:181387	"" []	570111	\N	\N	EFO	2	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Rare disorder with hypogonadotropic hypogonadism
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:181387	"" []	570112	\N	\N	EFO	2	EFO	Non-acquired pituitary hormone deficiency	Rare disorder with hypogonadotropic hypogonadism
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:181387	"" []	1152042	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Rare disorder with hypogonadotropic hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:181387	"" []	1152043	\N	\N	EFO	3	EFO	Rare genetic male infertility	Rare disorder with hypogonadotropic hypogonadism
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:181387	"" []	1152044	\N	\N	EFO	3	EFO	Pituitary deficiency	Rare disorder with hypogonadotropic hypogonadism
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181387	"" []	2034511	\N	\N	EFO	4	EFO	genetic disorder	Rare disorder with hypogonadotropic hypogonadism
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:181387	"" []	2034512	\N	\N	EFO	4	EFO	reproductive system disease	Rare disorder with hypogonadotropic hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:181387	"" []	2034513	\N	\N	EFO	4	EFO	Genetic infertility	Rare disorder with hypogonadotropic hypogonadism
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:181387	"" []	2034514	\N	\N	EFO	4	EFO	Rare genetic hypothalamic or pituitary disease	Rare disorder with hypogonadotropic hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181387	"" []	5411361	\N	\N	EFO	7	EFO	disease	Rare disorder with hypogonadotropic hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181387	"" []	4392631	\N	\N	EFO	6	EFO	disease	Rare disorder with hypogonadotropic hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181387	"" []	3185017	\N	\N	EFO	5	EFO	genetic disorder	Rare disorder with hypogonadotropic hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:181387	"" []	3185018	\N	\N	EFO	5	EFO	reproductive system disease	Rare disorder with hypogonadotropic hypogonadism
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:181387	"" []	3185019	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Rare disorder with hypogonadotropic hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181387	"" []	5876878	\N	\N	EFO	8	EFO	disposition	Rare disorder with hypogonadotropic hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181387	"" []	4392632	\N	\N	EFO	6	EFO	genetic disorder	Rare disorder with hypogonadotropic hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181387	"" []	4392633	\N	\N	EFO	6	EFO	endocrine system disease	Rare disorder with hypogonadotropic hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181387	"" []	6470086	\N	\N	EFO	9	EFO	material property	Rare disorder with hypogonadotropic hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181387	"" []	5411362	\N	\N	EFO	7	EFO	disease	Rare disorder with hypogonadotropic hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181387	"" []	6848345	\N	\N	EFO	10	EFO	experimental factor	Rare disorder with hypogonadotropic hypogonadism
Orphanet:181390	\N	\N	"" []	Orphanet:181390	"" []	74122	\N	\N	EFO	0	EFO	Hypogonadotropic hypogonadism associated with other endocrinopathies	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:174590	Orphanet:181390	\N	"" []	Orphanet:181390	"" []	215846	\N	\N	EFO	1	EFO	Congenital hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:399839	Orphanet:181390	\N	"" []	Orphanet:181390	"" []	215847	\N	\N	EFO	1	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:181390	"" []	570113	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:181390	"" []	570114	\N	\N	EFO	2	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:181390	"" []	570115	\N	\N	EFO	2	EFO	Non-acquired pituitary hormone deficiency	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:181390	"" []	570116	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:181390	"" []	1152045	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:181390	"" []	1152046	\N	\N	EFO	3	EFO	Rare genetic male infertility	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:181390	"" []	1152047	\N	\N	EFO	3	EFO	Pituitary deficiency	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:181390	"" []	1152048	\N	\N	EFO	3	EFO	Rare genetic female infertility	Hypogonadotropic hypogonadism associated with other endocrinopathies
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181390	"" []	2034515	\N	\N	EFO	4	EFO	genetic disorder	Hypogonadotropic hypogonadism associated with other endocrinopathies
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:181390	"" []	2034516	\N	\N	EFO	4	EFO	reproductive system disease	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:181390	"" []	2034517	\N	\N	EFO	4	EFO	Genetic infertility	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:181390	"" []	2034518	\N	\N	EFO	4	EFO	Rare genetic hypothalamic or pituitary disease	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:181390	"" []	2034519	\N	\N	EFO	4	EFO	Genetic infertility	Hypogonadotropic hypogonadism associated with other endocrinopathies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181390	"" []	5411364	\N	\N	EFO	7	EFO	disease	Hypogonadotropic hypogonadism associated with other endocrinopathies
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181390	"" []	4392636	\N	\N	EFO	6	EFO	disease	Hypogonadotropic hypogonadism associated with other endocrinopathies
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181390	"" []	3185022	\N	\N	EFO	5	EFO	genetic disorder	Hypogonadotropic hypogonadism associated with other endocrinopathies
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:181390	"" []	3185023	\N	\N	EFO	5	EFO	reproductive system disease	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:181390	"" []	3185024	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Hypogonadotropic hypogonadism associated with other endocrinopathies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181390	"" []	5876879	\N	\N	EFO	8	EFO	disposition	Hypogonadotropic hypogonadism associated with other endocrinopathies
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181390	"" []	4392637	\N	\N	EFO	6	EFO	genetic disorder	Hypogonadotropic hypogonadism associated with other endocrinopathies
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181390	"" []	4392638	\N	\N	EFO	6	EFO	endocrine system disease	Hypogonadotropic hypogonadism associated with other endocrinopathies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181390	"" []	6470087	\N	\N	EFO	9	EFO	material property	Hypogonadotropic hypogonadism associated with other endocrinopathies
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181390	"" []	5411365	\N	\N	EFO	7	EFO	disease	Hypogonadotropic hypogonadism associated with other endocrinopathies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181390	"" []	6848346	\N	\N	EFO	10	EFO	experimental factor	Hypogonadotropic hypogonadism associated with other endocrinopathies
Orphanet:181393	\N	\N	"" []	Orphanet:181393	"" []	74123	\N	\N	EFO	0	EFO	Growth hormone insensitivity syndrome	Growth hormone insensitivity syndrome
Orphanet:183628	Orphanet:181393	\N	"" []	Orphanet:181393	"" []	215848	\N	\N	EFO	1	EFO	Rare genetic hypothalamic or pituitary disease	Growth hormone insensitivity syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:181393	"" []	570117	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Growth hormone insensitivity syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181393	"" []	1152049	\N	\N	EFO	3	EFO	genetic disorder	Growth hormone insensitivity syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181393	"" []	1152050	\N	\N	EFO	3	EFO	endocrine system disease	Growth hormone insensitivity syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181393	"" []	2034520	\N	\N	EFO	4	EFO	disease	Growth hormone insensitivity syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181393	"" []	2034521	\N	\N	EFO	4	EFO	disease	Growth hormone insensitivity syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181393	"" []	3185025	\N	\N	EFO	5	EFO	disposition	Growth hormone insensitivity syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181393	"" []	4392639	\N	\N	EFO	6	EFO	material property	Growth hormone insensitivity syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181393	"" []	5411366	\N	\N	EFO	7	EFO	experimental factor	Growth hormone insensitivity syndrome
Orphanet:181396	\N	\N	"" []	Orphanet:181396	"" []	74124	\N	\N	EFO	0	EFO	Rare hypothyroidism	Rare hypothyroidism
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:181396	"" []	215849	\N	\N	EFO	1	EFO	Rare genetic thyroid disease	Rare hypothyroidism
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:181396	"" []	570118	\N	\N	EFO	2	EFO	thyroid disease	Rare hypothyroidism
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:181396	"" []	570119	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Rare hypothyroidism
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181396	"" []	1152051	\N	\N	EFO	3	EFO	endocrine system disease	Rare hypothyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181396	"" []	1152052	\N	\N	EFO	3	EFO	genetic disorder	Rare hypothyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181396	"" []	1152053	\N	\N	EFO	3	EFO	endocrine system disease	Rare hypothyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181396	"" []	2034522	\N	\N	EFO	4	EFO	disease	Rare hypothyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181396	"" []	2034523	\N	\N	EFO	4	EFO	disease	Rare hypothyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181396	"" []	3185026	\N	\N	EFO	5	EFO	disposition	Rare hypothyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181396	"" []	4392640	\N	\N	EFO	6	EFO	material property	Rare hypothyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181396	"" []	5411367	\N	\N	EFO	7	EFO	experimental factor	Rare hypothyroidism
Orphanet:181399	\N	\N	"" []	Orphanet:181399	"" []	74125	\N	\N	EFO	0	EFO	Rare hyperthyroidism	Rare hyperthyroidism
Orphanet:183631	Orphanet:181399	\N	"" []	Orphanet:181399	"" []	215850	\N	\N	EFO	1	EFO	Rare genetic thyroid disease	Rare hyperthyroidism
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:181399	"" []	570120	\N	\N	EFO	2	EFO	thyroid disease	Rare hyperthyroidism
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:181399	"" []	570121	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Rare hyperthyroidism
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181399	"" []	1152054	\N	\N	EFO	3	EFO	endocrine system disease	Rare hyperthyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181399	"" []	1152055	\N	\N	EFO	3	EFO	genetic disorder	Rare hyperthyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181399	"" []	1152056	\N	\N	EFO	3	EFO	endocrine system disease	Rare hyperthyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181399	"" []	2034524	\N	\N	EFO	4	EFO	disease	Rare hyperthyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181399	"" []	2034525	\N	\N	EFO	4	EFO	disease	Rare hyperthyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181399	"" []	3185027	\N	\N	EFO	5	EFO	disposition	Rare hyperthyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181399	"" []	4392641	\N	\N	EFO	6	EFO	material property	Rare hyperthyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181399	"" []	5411368	\N	\N	EFO	7	EFO	experimental factor	Rare hyperthyroidism
Orphanet:181402	\N	\N	"" []	Orphanet:181402	"" []	74126	\N	\N	EFO	0	EFO	Syndrome with hypoparathyroidism	Syndrome with hypoparathyroidism
Orphanet:208593	Orphanet:181402	\N	"" []	Orphanet:181402	"" []	215851	\N	\N	EFO	1	EFO	Genetic hypoparathyroidism	Syndrome with hypoparathyroidism
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:181402	"" []	570122	\N	\N	EFO	2	EFO	parathyroid disease	Syndrome with hypoparathyroidism
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:181402	"" []	570123	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Syndrome with hypoparathyroidism
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:181402	"" []	1152057	\N	\N	EFO	3	EFO	calcium metabolic disease	Syndrome with hypoparathyroidism
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:181402	"" []	1152058	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Syndrome with hypoparathyroidism
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:181402	"" []	2034526	\N	\N	EFO	4	EFO	metabolic disease	Syndrome with hypoparathyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181402	"" []	2034527	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with hypoparathyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181402	"" []	2034528	\N	\N	EFO	4	EFO	endocrine system disease	Syndrome with hypoparathyroidism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181402	"" []	3185028	\N	\N	EFO	5	EFO	disease	Syndrome with hypoparathyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181402	"" []	3185029	\N	\N	EFO	5	EFO	disease	Syndrome with hypoparathyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181402	"" []	3185030	\N	\N	EFO	5	EFO	disease	Syndrome with hypoparathyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181402	"" []	4392642	\N	\N	EFO	6	EFO	disposition	Syndrome with hypoparathyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181402	"" []	5411369	\N	\N	EFO	7	EFO	material property	Syndrome with hypoparathyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181402	"" []	6148711	\N	\N	EFO	8	EFO	experimental factor	Syndrome with hypoparathyroidism
Orphanet:181412	\N	\N	"" []	Orphanet:181412	"" []	74127	\N	\N	EFO	0	EFO	Adrenogenital syndrome	Adrenogenital syndrome
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:181412	"" []	215852	\N	\N	EFO	1	EFO	Rare genetic adrenal disease	Adrenogenital syndrome
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:181412	"" []	570124	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Adrenogenital syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181412	"" []	1152059	\N	\N	EFO	3	EFO	genetic disorder	Adrenogenital syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181412	"" []	1152060	\N	\N	EFO	3	EFO	endocrine system disease	Adrenogenital syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181412	"" []	2034529	\N	\N	EFO	4	EFO	disease	Adrenogenital syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181412	"" []	2034530	\N	\N	EFO	4	EFO	disease	Adrenogenital syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181412	"" []	3185031	\N	\N	EFO	5	EFO	disposition	Adrenogenital syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181412	"" []	4392643	\N	\N	EFO	6	EFO	material property	Adrenogenital syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181412	"" []	5411370	\N	\N	EFO	7	EFO	experimental factor	Adrenogenital syndrome
Orphanet:181422	\N	\N	"" []	Orphanet:181422	"" []	74128	\N	\N	EFO	0	EFO	Rare hyperlipidemia	Rare hyperlipidemia
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:181422	"" []	215853	\N	\N	EFO	1	EFO	Rare dyslipidemia	Rare hyperlipidemia
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:181422	"" []	570125	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Rare hyperlipidemia
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:181422	"" []	570126	\N	\N	EFO	2	EFO	Disorder of lipid metabolism	Rare hyperlipidemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181422	"" []	1152061	\N	\N	EFO	3	EFO	genetic disorder	Rare hyperlipidemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181422	"" []	1152062	\N	\N	EFO	3	EFO	endocrine system disease	Rare hyperlipidemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:181422	"" []	1152063	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Rare hyperlipidemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181422	"" []	3185033	\N	\N	EFO	5	EFO	disease	Rare hyperlipidemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181422	"" []	2034532	\N	\N	EFO	4	EFO	disease	Rare hyperlipidemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181422	"" []	2034533	\N	\N	EFO	4	EFO	genetic disorder	Rare hyperlipidemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:181422	"" []	2034534	\N	\N	EFO	4	EFO	metabolic disease	Rare hyperlipidemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181422	"" []	4133410	\N	\N	EFO	6	EFO	disposition	Rare hyperlipidemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181422	"" []	3185034	\N	\N	EFO	5	EFO	disease	Rare hyperlipidemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181422	"" []	5181800	\N	\N	EFO	7	EFO	material property	Rare hyperlipidemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181422	"" []	5997180	\N	\N	EFO	8	EFO	experimental factor	Rare hyperlipidemia
Orphanet:181425	\N	\N	"" []	Orphanet:181425	"" []	74129	\N	\N	EFO	0	EFO	Major hypertriglyceridemia	Major hypertriglyceridemia
Orphanet:181422	Orphanet:181425	\N	"" []	Orphanet:181425	"" []	215854	\N	\N	EFO	1	EFO	Rare hyperlipidemia	Major hypertriglyceridemia
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:181425	"" []	570127	\N	\N	EFO	2	EFO	Rare dyslipidemia	Major hypertriglyceridemia
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:181425	"" []	1152064	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Major hypertriglyceridemia
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:181425	"" []	1152065	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Major hypertriglyceridemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181425	"" []	2034535	\N	\N	EFO	4	EFO	genetic disorder	Major hypertriglyceridemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181425	"" []	2034536	\N	\N	EFO	4	EFO	endocrine system disease	Major hypertriglyceridemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:181425	"" []	2034537	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Major hypertriglyceridemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181425	"" []	4392646	\N	\N	EFO	6	EFO	disease	Major hypertriglyceridemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181425	"" []	3185036	\N	\N	EFO	5	EFO	disease	Major hypertriglyceridemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181425	"" []	3185037	\N	\N	EFO	5	EFO	genetic disorder	Major hypertriglyceridemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:181425	"" []	3185038	\N	\N	EFO	5	EFO	metabolic disease	Major hypertriglyceridemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181425	"" []	5181801	\N	\N	EFO	7	EFO	disposition	Major hypertriglyceridemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181425	"" []	4392647	\N	\N	EFO	6	EFO	disease	Major hypertriglyceridemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181425	"" []	5997181	\N	\N	EFO	8	EFO	material property	Major hypertriglyceridemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181425	"" []	6550694	\N	\N	EFO	9	EFO	experimental factor	Major hypertriglyceridemia
Orphanet:181428	\N	\N	"" []	Orphanet:181428	"" []	74130	\N	\N	EFO	0	EFO	Hyperalphalipoproteinemia	Hyperalphalipoproteinemia
Orphanet:181422	Orphanet:181428	\N	"" []	Orphanet:181428	"" []	215855	\N	\N	EFO	1	EFO	Rare hyperlipidemia	Hyperalphalipoproteinemia
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:181428	"" []	570128	\N	\N	EFO	2	EFO	Rare dyslipidemia	Hyperalphalipoproteinemia
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:181428	"" []	1152066	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Hyperalphalipoproteinemia
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:181428	"" []	1152067	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Hyperalphalipoproteinemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181428	"" []	2034538	\N	\N	EFO	4	EFO	genetic disorder	Hyperalphalipoproteinemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181428	"" []	2034539	\N	\N	EFO	4	EFO	endocrine system disease	Hyperalphalipoproteinemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:181428	"" []	2034540	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hyperalphalipoproteinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181428	"" []	4392649	\N	\N	EFO	6	EFO	disease	Hyperalphalipoproteinemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181428	"" []	3185040	\N	\N	EFO	5	EFO	disease	Hyperalphalipoproteinemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181428	"" []	3185041	\N	\N	EFO	5	EFO	genetic disorder	Hyperalphalipoproteinemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:181428	"" []	3185042	\N	\N	EFO	5	EFO	metabolic disease	Hyperalphalipoproteinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181428	"" []	5181802	\N	\N	EFO	7	EFO	disposition	Hyperalphalipoproteinemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181428	"" []	4392650	\N	\N	EFO	6	EFO	disease	Hyperalphalipoproteinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181428	"" []	5997182	\N	\N	EFO	8	EFO	material property	Hyperalphalipoproteinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181428	"" []	6550695	\N	\N	EFO	9	EFO	experimental factor	Hyperalphalipoproteinemia
Orphanet:181431	\N	\N	"" []	Orphanet:181431	"" []	74131	\N	\N	EFO	0	EFO	Rare hypolipidemia	Rare hypolipidemia
Orphanet:101953	Orphanet:181431	\N	"" []	Orphanet:181431	"" []	215856	\N	\N	EFO	1	EFO	Rare dyslipidemia	Rare hypolipidemia
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:181431	"" []	570129	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Rare hypolipidemia
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:181431	"" []	570130	\N	\N	EFO	2	EFO	Disorder of lipid metabolism	Rare hypolipidemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181431	"" []	1152068	\N	\N	EFO	3	EFO	genetic disorder	Rare hypolipidemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181431	"" []	1152069	\N	\N	EFO	3	EFO	endocrine system disease	Rare hypolipidemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:181431	"" []	1152070	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Rare hypolipidemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181431	"" []	3185044	\N	\N	EFO	5	EFO	disease	Rare hypolipidemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181431	"" []	2034542	\N	\N	EFO	4	EFO	disease	Rare hypolipidemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181431	"" []	2034543	\N	\N	EFO	4	EFO	genetic disorder	Rare hypolipidemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:181431	"" []	2034544	\N	\N	EFO	4	EFO	metabolic disease	Rare hypolipidemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181431	"" []	4133411	\N	\N	EFO	6	EFO	disposition	Rare hypolipidemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181431	"" []	3185045	\N	\N	EFO	5	EFO	disease	Rare hypolipidemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181431	"" []	5181803	\N	\N	EFO	7	EFO	material property	Rare hypolipidemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181431	"" []	5997183	\N	\N	EFO	8	EFO	experimental factor	Rare hypolipidemia
Orphanet:181437	\N	\N	"" []	Orphanet:181437	"" []	74132	\N	\N	EFO	0	EFO	Rare syndromic dyslipidemia	Rare syndromic dyslipidemia
Orphanet:101953	Orphanet:181437	\N	"" []	Orphanet:181437	"" []	215857	\N	\N	EFO	1	EFO	Rare dyslipidemia	Rare syndromic dyslipidemia
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:181437	"" []	570131	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Rare syndromic dyslipidemia
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:181437	"" []	570132	\N	\N	EFO	2	EFO	Disorder of lipid metabolism	Rare syndromic dyslipidemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181437	"" []	1152071	\N	\N	EFO	3	EFO	genetic disorder	Rare syndromic dyslipidemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181437	"" []	1152072	\N	\N	EFO	3	EFO	endocrine system disease	Rare syndromic dyslipidemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:181437	"" []	1152073	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Rare syndromic dyslipidemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181437	"" []	3185047	\N	\N	EFO	5	EFO	disease	Rare syndromic dyslipidemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181437	"" []	2034546	\N	\N	EFO	4	EFO	disease	Rare syndromic dyslipidemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181437	"" []	2034547	\N	\N	EFO	4	EFO	genetic disorder	Rare syndromic dyslipidemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:181437	"" []	2034548	\N	\N	EFO	4	EFO	metabolic disease	Rare syndromic dyslipidemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181437	"" []	4133412	\N	\N	EFO	6	EFO	disposition	Rare syndromic dyslipidemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181437	"" []	3185048	\N	\N	EFO	5	EFO	disease	Rare syndromic dyslipidemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181437	"" []	5181804	\N	\N	EFO	7	EFO	material property	Rare syndromic dyslipidemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181437	"" []	5997184	\N	\N	EFO	8	EFO	experimental factor	Rare syndromic dyslipidemia
Orphanet:181441	\N	\N	"" []	Orphanet:181441	"" []	74133	\N	\N	EFO	0	EFO	Rare disorder with hypergonadotropic hypogonadism	Rare disorder with hypergonadotropic hypogonadism
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:181441	"" []	215858	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Rare disorder with hypergonadotropic hypogonadism
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:181441	"" []	215859	\N	\N	EFO	1	EFO	Rare male infertility due to testicular endocrine disorder	Rare disorder with hypergonadotropic hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181441	"" []	570133	\N	\N	EFO	2	EFO	genetic disorder	Rare disorder with hypergonadotropic hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:181441	"" []	570134	\N	\N	EFO	2	EFO	endocrine system disease	Rare disorder with hypergonadotropic hypogonadism
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:181441	"" []	570135	\N	\N	EFO	2	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Rare disorder with hypergonadotropic hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181441	"" []	4392654	\N	\N	EFO	6	EFO	disease	Rare disorder with hypergonadotropic hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181441	"" []	1152075	\N	\N	EFO	3	EFO	disease	Rare disorder with hypergonadotropic hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:181441	"" []	1152076	\N	\N	EFO	3	EFO	Rare genetic male infertility	Rare disorder with hypergonadotropic hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:181441	"" []	5028403	\N	\N	EFO	7	EFO	disposition	Rare disorder with hypergonadotropic hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:181441	"" []	2034550	\N	\N	EFO	4	EFO	Genetic infertility	Rare disorder with hypergonadotropic hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:181441	"" []	5817523	\N	\N	EFO	8	EFO	material property	Rare disorder with hypergonadotropic hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:181441	"" []	3185050	\N	\N	EFO	5	EFO	genetic disorder	Rare disorder with hypergonadotropic hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:181441	"" []	3185051	\N	\N	EFO	5	EFO	reproductive system disease	Rare disorder with hypergonadotropic hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:181441	"" []	6409891	\N	\N	EFO	9	EFO	experimental factor	Rare disorder with hypergonadotropic hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:181441	"" []	4392655	\N	\N	EFO	6	EFO	disease	Rare disorder with hypergonadotropic hypogonadism
Orphanet:1816	\N	\N	"" []	Orphanet:1816	"" []	74134	\N	\N	EFO	0	EFO	Ectodermal dysplasia, Berlin type	Ectodermal dysplasia, Berlin type
Orphanet:79373	Orphanet:1816	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1816	"" []	215860	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ectodermal dysplasia, Berlin type
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1816	"" []	570136	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ectodermal dysplasia, Berlin type
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1816	"" []	570137	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ectodermal dysplasia, Berlin type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1816	"" []	1152077	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia, Berlin type
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1816	"" []	1152078	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ectodermal dysplasia, Berlin type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1816	"" []	2034551	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia, Berlin type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1816	"" []	2034552	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia, Berlin type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1816	"" []	2034553	\N	\N	EFO	4	EFO	skin disease	Ectodermal dysplasia, Berlin type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1816	"" []	3185052	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia, Berlin type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1816	"" []	3185053	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia, Berlin type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1816	"" []	4392656	\N	\N	EFO	6	EFO	disposition	Ectodermal dysplasia, Berlin type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1816	"" []	5411376	\N	\N	EFO	7	EFO	material property	Ectodermal dysplasia, Berlin type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1816	"" []	6148714	\N	\N	EFO	8	EFO	experimental factor	Ectodermal dysplasia, Berlin type
Orphanet:1818	\N	\N	"" []	Orphanet:1818	"" []	74135	\N	\N	EFO	0	EFO	Ectodermal dysplasia, trichoodontoonychial type	Ectodermal dysplasia, trichoodontoonychial type
Orphanet:183580	Orphanet:1818	\N	"" []	Orphanet:1818	"" []	215861	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Ectodermal dysplasia, trichoodontoonychial type
Orphanet:79373	Orphanet:1818	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1818	"" []	215862	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ectodermal dysplasia, trichoodontoonychial type
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:1818	"" []	570138	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia, trichoodontoonychial type
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1818	"" []	570139	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ectodermal dysplasia, trichoodontoonychial type
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1818	"" []	570140	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ectodermal dysplasia, trichoodontoonychial type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1818	"" []	2034555	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia, trichoodontoonychial type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1818	"" []	1152080	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia, trichoodontoonychial type
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1818	"" []	1152081	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ectodermal dysplasia, trichoodontoonychial type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1818	"" []	3000167	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia, trichoodontoonychial type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1818	"" []	2034556	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia, trichoodontoonychial type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1818	"" []	2034557	\N	\N	EFO	4	EFO	skin disease	Ectodermal dysplasia, trichoodontoonychial type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1818	"" []	4133413	\N	\N	EFO	6	EFO	disposition	Ectodermal dysplasia, trichoodontoonychial type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1818	"" []	3185055	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia, trichoodontoonychial type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1818	"" []	5181805	\N	\N	EFO	7	EFO	material property	Ectodermal dysplasia, trichoodontoonychial type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1818	"" []	5997185	\N	\N	EFO	8	EFO	experimental factor	Ectodermal dysplasia, trichoodontoonychial type
Orphanet:182040	\N	\N	"" []	Orphanet:182040	"" []	74136	\N	\N	EFO	0	EFO	Medullar aplasia	Medullar aplasia
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:182040	"" []	215863	\N	\N	EFO	1	EFO	Rare constitutional anemia	Medullar aplasia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:182040	"" []	570141	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Medullar aplasia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:182040	"" []	1152082	\N	\N	EFO	3	EFO	genetic disorder	Medullar aplasia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:182040	"" []	1152083	\N	\N	EFO	3	EFO	hematological system disease	Medullar aplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:182040	"" []	2034558	\N	\N	EFO	4	EFO	disease	Medullar aplasia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:182040	"" []	2034559	\N	\N	EFO	4	EFO	disease	Medullar aplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:182040	"" []	3185056	\N	\N	EFO	5	EFO	disposition	Medullar aplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:182040	"" []	4392658	\N	\N	EFO	6	EFO	material property	Medullar aplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:182040	"" []	5411378	\N	\N	EFO	7	EFO	experimental factor	Medullar aplasia
Orphanet:182043	\N	\N	"" []	Orphanet:182043	"" []	74137	\N	\N	EFO	0	EFO	Rare constitutional hemolytic anemia	Rare constitutional hemolytic anemia
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:182043	"" []	215864	\N	\N	EFO	1	EFO	Rare constitutional anemia	Rare constitutional hemolytic anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:182043	"" []	570142	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Rare constitutional hemolytic anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:182043	"" []	1152084	\N	\N	EFO	3	EFO	genetic disorder	Rare constitutional hemolytic anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:182043	"" []	1152085	\N	\N	EFO	3	EFO	hematological system disease	Rare constitutional hemolytic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:182043	"" []	2034560	\N	\N	EFO	4	EFO	disease	Rare constitutional hemolytic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:182043	"" []	2034561	\N	\N	EFO	4	EFO	disease	Rare constitutional hemolytic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:182043	"" []	3185057	\N	\N	EFO	5	EFO	disposition	Rare constitutional hemolytic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:182043	"" []	4392659	\N	\N	EFO	6	EFO	material property	Rare constitutional hemolytic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:182043	"" []	5411379	\N	\N	EFO	7	EFO	experimental factor	Rare constitutional hemolytic anemia
Orphanet:182050	\N	\N	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	74138	\N	\N	EFO	0	EFO	MYH9-related disease	MYH9-related disease
Orphanet:102373	Orphanet:182050	\N	"" []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	215865	\N	\N	EFO	1	EFO	Primary glomerular disease	MYH9-related disease
Orphanet:220452	Orphanet:182050	\N	"" []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	215866	\N	\N	EFO	1	EFO	Inherited giant platelet disorder	MYH9-related disease
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	570143	\N	\N	EFO	2	EFO	Genetic glomerular disease	MYH9-related disease
Orphanet:275729	Orphanet:220452	\N	"" []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	570144	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	MYH9-related disease
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	1152086	\N	\N	EFO	3	EFO	Rare genetic renal disease	MYH9-related disease
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	1152087	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	MYH9-related disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	2034562	\N	\N	EFO	4	EFO	genetic disorder	MYH9-related disease
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	2034563	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	MYH9-related disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	5411381	\N	\N	EFO	7	EFO	disease	MYH9-related disease
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	3185059	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	MYH9-related disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	5876880	\N	\N	EFO	8	EFO	disposition	MYH9-related disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	4392661	\N	\N	EFO	6	EFO	genetic disorder	MYH9-related disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	4392662	\N	\N	EFO	6	EFO	hematological system disease	MYH9-related disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	6470088	\N	\N	EFO	9	EFO	material property	MYH9-related disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	5411382	\N	\N	EFO	7	EFO	disease	MYH9-related disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:182050	"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD)." []	6848347	\N	\N	EFO	10	EFO	experimental factor	MYH9-related disease
Orphanet:182073	\N	\N	"" []	Orphanet:182073	"" []	74139	\N	\N	EFO	0	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Syndromic neurometabolic disease with non-X-linked intellectual disability
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:182073	"" []	215867	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Syndromic neurometabolic disease with non-X-linked intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:182073	"" []	570145	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Syndromic neurometabolic disease with non-X-linked intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:182073	"" []	1152088	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Syndromic neurometabolic disease with non-X-linked intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:182073	"" []	2034564	\N	\N	EFO	4	EFO	genetic disorder	Syndromic neurometabolic disease with non-X-linked intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:182073	"" []	3185060	\N	\N	EFO	5	EFO	disease	Syndromic neurometabolic disease with non-X-linked intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:182073	"" []	4392663	\N	\N	EFO	6	EFO	disposition	Syndromic neurometabolic disease with non-X-linked intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:182073	"" []	5411383	\N	\N	EFO	7	EFO	material property	Syndromic neurometabolic disease with non-X-linked intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:182073	"" []	6148716	\N	\N	EFO	8	EFO	experimental factor	Syndromic neurometabolic disease with non-X-linked intellectual disability
Orphanet:182076	\N	\N	"" []	Orphanet:182076	"" []	74140	\N	\N	EFO	0	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Syndromic neurometabolic disease with X-linked intellectual disability
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:182076	"" []	215868	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Syndromic neurometabolic disease with X-linked intellectual disability
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:182076	"" []	570146	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Syndromic neurometabolic disease with X-linked intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:182076	"" []	1152089	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Syndromic neurometabolic disease with X-linked intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:182076	"" []	2034565	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Syndromic neurometabolic disease with X-linked intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:182076	"" []	3185061	\N	\N	EFO	5	EFO	genetic disorder	Syndromic neurometabolic disease with X-linked intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:182076	"" []	4392664	\N	\N	EFO	6	EFO	disease	Syndromic neurometabolic disease with X-linked intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:182076	"" []	5411384	\N	\N	EFO	7	EFO	disposition	Syndromic neurometabolic disease with X-linked intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:182076	"" []	6148717	\N	\N	EFO	8	EFO	material property	Syndromic neurometabolic disease with X-linked intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:182076	"" []	6632354	\N	\N	EFO	9	EFO	experimental factor	Syndromic neurometabolic disease with X-linked intellectual disability
Orphanet:182079	\N	\N	"" []	Orphanet:182079	"" []	74141	\N	\N	EFO	0	EFO	ARX-related epileptic encephalopathy	ARX-related epileptic encephalopathy
Orphanet:166472	Orphanet:182079	\N	"" []	Orphanet:182079	"" []	215869	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	ARX-related epileptic encephalopathy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:182079	"" []	570147	\N	\N	EFO	2	EFO	Rare genetic epilepsy	ARX-related epileptic encephalopathy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:182079	"" []	1152090	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	ARX-related epileptic encephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:182079	"" []	2034566	\N	\N	EFO	4	EFO	genetic disorder	ARX-related epileptic encephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:182079	"" []	3185062	\N	\N	EFO	5	EFO	disease	ARX-related epileptic encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:182079	"" []	4392665	\N	\N	EFO	6	EFO	disposition	ARX-related epileptic encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:182079	"" []	5411385	\N	\N	EFO	7	EFO	material property	ARX-related epileptic encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:182079	"" []	6148718	\N	\N	EFO	8	EFO	experimental factor	ARX-related epileptic encephalopathy
Orphanet:182083	\N	\N	"" []	Orphanet:182083	"" []	74142	\N	\N	EFO	0	EFO	Channelopathy with epilepsy	Channelopathy with epilepsy
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:182083	"" []	215870	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Channelopathy with epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:182083	"" []	570148	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Channelopathy with epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:182083	"" []	1152091	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Channelopathy with epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:182083	"" []	2034567	\N	\N	EFO	4	EFO	genetic disorder	Channelopathy with epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:182083	"" []	3185063	\N	\N	EFO	5	EFO	disease	Channelopathy with epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:182083	"" []	4392666	\N	\N	EFO	6	EFO	disposition	Channelopathy with epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:182083	"" []	5411386	\N	\N	EFO	7	EFO	material property	Channelopathy with epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:182083	"" []	6148719	\N	\N	EFO	8	EFO	experimental factor	Channelopathy with epilepsy
Orphanet:182098	\N	\N	"" []	Orphanet:182098	"" []	74143	\N	\N	EFO	0	EFO	pneumoconiosis	pneumoconiosis
EFO:0000771	Orphanet:182098	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	Orphanet:182098	"" []	215871	\N	\N	EFO	1	EFO	bacterial disease	pneumoconiosis
EFO:0003818	Orphanet:182098	\N	"Pathological processes involving any part of the LUNG." []	Orphanet:182098	"" []	215872	\N	\N	EFO	1	EFO	lung disease	pneumoconiosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	Orphanet:182098	"" []	570149	\N	\N	EFO	2	EFO	infectious disease	pneumoconiosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:182098	"" []	570150	\N	\N	EFO	2	EFO	respiratory system disease	pneumoconiosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:182098	"" []	1152092	\N	\N	EFO	3	EFO	disease	pneumoconiosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:182098	"" []	1152093	\N	\N	EFO	3	EFO	disease	pneumoconiosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:182098	"" []	2034568	\N	\N	EFO	4	EFO	disposition	pneumoconiosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:182098	"" []	3185064	\N	\N	EFO	5	EFO	material property	pneumoconiosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:182098	"" []	4392667	\N	\N	EFO	6	EFO	experimental factor	pneumoconiosis
Orphanet:1822	\N	\N	"" []	Orphanet:1822	"" []	74144	\N	\N	EFO	0	EFO	Dysplasia epiphysealis hemimelica	Dysplasia epiphysealis hemimelica
Orphanet:93450	Orphanet:1822	\N	"" []	Orphanet:1822	"" []	215873	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Dysplasia epiphysealis hemimelica
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:1822	"" []	570151	\N	\N	EFO	2	EFO	Primary bone dysplasia	Dysplasia epiphysealis hemimelica
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1822	"" []	1152094	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dysplasia epiphysealis hemimelica
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1822	"" []	1152095	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dysplasia epiphysealis hemimelica
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1822	"" []	2034569	\N	\N	EFO	4	EFO	genetic disorder	Dysplasia epiphysealis hemimelica
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1822	"" []	2034570	\N	\N	EFO	4	EFO	bone disease	Dysplasia epiphysealis hemimelica
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1822	"" []	2034571	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dysplasia epiphysealis hemimelica
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1822	"" []	4392670	\N	\N	EFO	6	EFO	disease	Dysplasia epiphysealis hemimelica
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1822	"" []	3185066	\N	\N	EFO	5	EFO	skeletal system disease	Dysplasia epiphysealis hemimelica
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1822	"" []	3185067	\N	\N	EFO	5	EFO	genetic disorder	Dysplasia epiphysealis hemimelica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1822	"" []	5181806	\N	\N	EFO	7	EFO	disposition	Dysplasia epiphysealis hemimelica
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1822	"" []	4392669	\N	\N	EFO	6	EFO	disease	Dysplasia epiphysealis hemimelica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1822	"" []	5997186	\N	\N	EFO	8	EFO	material property	Dysplasia epiphysealis hemimelica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1822	"" []	6550696	\N	\N	EFO	9	EFO	experimental factor	Dysplasia epiphysealis hemimelica
Orphanet:1824	\N	\N	"" []	Orphanet:1824	"" []	74145	\N	\N	EFO	0	EFO	Lowry-Wood syndrome	Lowry-Wood syndrome
Orphanet:93429	Orphanet:1824	\N	"" []	Orphanet:1824	"" []	215874	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Lowry-Wood syndrome
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:1824	"" []	570152	\N	\N	EFO	2	EFO	Primary bone dysplasia	Lowry-Wood syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1824	"" []	1152096	\N	\N	EFO	3	EFO	Rare genetic bone disease	Lowry-Wood syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1824	"" []	1152097	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Lowry-Wood syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1824	"" []	2034572	\N	\N	EFO	4	EFO	genetic disorder	Lowry-Wood syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1824	"" []	2034573	\N	\N	EFO	4	EFO	bone disease	Lowry-Wood syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1824	"" []	2034574	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lowry-Wood syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1824	"" []	4392673	\N	\N	EFO	6	EFO	disease	Lowry-Wood syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1824	"" []	3185069	\N	\N	EFO	5	EFO	skeletal system disease	Lowry-Wood syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1824	"" []	3185070	\N	\N	EFO	5	EFO	genetic disorder	Lowry-Wood syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1824	"" []	5181807	\N	\N	EFO	7	EFO	disposition	Lowry-Wood syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1824	"" []	4392672	\N	\N	EFO	6	EFO	disease	Lowry-Wood syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1824	"" []	5997187	\N	\N	EFO	8	EFO	material property	Lowry-Wood syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1824	"" []	6550697	\N	\N	EFO	9	EFO	experimental factor	Lowry-Wood syndrome
Orphanet:1825	\N	\N	"" []	Orphanet:1825	"" []	74146	\N	\N	EFO	0	EFO	Epiphyseal dysplasia - hearing loss - dysmorphism	Epiphyseal dysplasia - hearing loss - dysmorphism
Orphanet:102283	Orphanet:1825	\N	"" []	Orphanet:1825	"" []	215875	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Epiphyseal dysplasia - hearing loss - dysmorphism
Orphanet:183763	Orphanet:1825	\N	"" []	Orphanet:1825	"" []	215876	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Epiphyseal dysplasia - hearing loss - dysmorphism
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1825	"" []	570153	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Epiphyseal dysplasia - hearing loss - dysmorphism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1825	"" []	570154	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Epiphyseal dysplasia - hearing loss - dysmorphism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1825	"" []	1152098	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Epiphyseal dysplasia - hearing loss - dysmorphism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1825	"" []	1152099	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Epiphyseal dysplasia - hearing loss - dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1825	"" []	2034575	\N	\N	EFO	4	EFO	genetic disorder	Epiphyseal dysplasia - hearing loss - dysmorphism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1825	"" []	2034576	\N	\N	EFO	4	EFO	genetic disorder	Epiphyseal dysplasia - hearing loss - dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1825	"" []	3185071	\N	\N	EFO	5	EFO	disease	Epiphyseal dysplasia - hearing loss - dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1825	"" []	4392674	\N	\N	EFO	6	EFO	disposition	Epiphyseal dysplasia - hearing loss - dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1825	"" []	5411389	\N	\N	EFO	7	EFO	material property	Epiphyseal dysplasia - hearing loss - dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1825	"" []	6148722	\N	\N	EFO	8	EFO	experimental factor	Epiphyseal dysplasia - hearing loss - dysmorphism
Orphanet:1826	\N	\N	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	74147	\N	\N	EFO	0	EFO	Frontometaphyseal dysplasia	Frontometaphyseal dysplasia
Orphanet:330197	Orphanet:1826	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	215877	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Frontometaphyseal dysplasia
Orphanet:364541	Orphanet:1826	\N	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	215878	\N	\N	EFO	1	EFO	Frontootopalatodigital syndrome	Frontometaphyseal dysplasia
Orphanet:98464	Orphanet:1826	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	215879	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Frontometaphyseal dysplasia
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	570155	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Frontometaphyseal dysplasia
Orphanet:364526	Orphanet:364541	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	570156	\N	\N	EFO	2	EFO	Primary bone dysplasia	Frontometaphyseal dysplasia
Orphanet:93425	Orphanet:364541	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	570157	\N	\N	EFO	2	EFO	Filamin-related bone disorder	Frontometaphyseal dysplasia
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	570158	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Frontometaphyseal dysplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	1152100	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Frontometaphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	1152101	\N	\N	EFO	3	EFO	Rare genetic bone disease	Frontometaphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	1152102	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Frontometaphyseal dysplasia
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	1152103	\N	\N	EFO	3	EFO	Rare bone disease related to a common gene or pathway defect	Frontometaphyseal dysplasia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	1152104	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Frontometaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	3185074	\N	\N	EFO	5	EFO	genetic disorder	Frontometaphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	3185075	\N	\N	EFO	5	EFO	genetic disorder	Frontometaphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	3185076	\N	\N	EFO	5	EFO	bone disease	Frontometaphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	2034580	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Frontometaphyseal dysplasia
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	2034581	\N	\N	EFO	4	EFO	Rare genetic bone disease	Frontometaphyseal dysplasia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	2034582	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Frontometaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	4133414	\N	\N	EFO	6	EFO	disease	Frontometaphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	4133415	\N	\N	EFO	6	EFO	skeletal system disease	Frontometaphyseal dysplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	3185077	\N	\N	EFO	5	EFO	genetic disorder	Frontometaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	5997189	\N	\N	EFO	8	EFO	disposition	Frontometaphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	5181809	\N	\N	EFO	7	EFO	disease	Frontometaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	6470089	\N	\N	EFO	9	EFO	material property	Frontometaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1826	"Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss." []	6848348	\N	\N	EFO	10	EFO	experimental factor	Frontometaphyseal dysplasia
Orphanet:1827	\N	\N	"" []	Orphanet:1827	"" []	74148	\N	\N	EFO	0	EFO	Acromelic frontonasal dysplasia	Acromelic frontonasal dysplasia
Orphanet:250	Orphanet:1827	\N	"" []	Orphanet:1827	"" []	215880	\N	\N	EFO	1	EFO	Frontonasal dysplasia	Acromelic frontonasal dysplasia
Orphanet:364574	Orphanet:1827	\N	"" []	Orphanet:1827	"" []	215881	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Acromelic frontonasal dysplasia
Orphanet:93453	Orphanet:250	\N	"" []	Orphanet:1827	"" []	570159	\N	\N	EFO	2	EFO	Dysostosis with predominant craniofacial involvement	Acromelic frontonasal dysplasia
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:1827	"" []	570160	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Acromelic frontonasal dysplasia
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:1827	"" []	570161	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Acromelic frontonasal dysplasia
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:1827	"" []	1152105	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Acromelic frontonasal dysplasia
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:1827	"" []	1152106	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acromelic frontonasal dysplasia
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1827	"" []	1152107	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acromelic frontonasal dysplasia
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1827	"" []	1152108	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Acromelic frontonasal dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1827	"" []	3185081	\N	\N	EFO	5	EFO	Rare genetic bone disease	Acromelic frontonasal dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1827	"" []	3185082	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Acromelic frontonasal dysplasia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1827	"" []	2034585	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Acromelic frontonasal dysplasia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1827	"" []	2034586	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Acromelic frontonasal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1827	"" []	4133416	\N	\N	EFO	6	EFO	genetic disorder	Acromelic frontonasal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1827	"" []	4133417	\N	\N	EFO	6	EFO	bone disease	Acromelic frontonasal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1827	"" []	4133418	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acromelic frontonasal dysplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1827	"" []	3185083	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acromelic frontonasal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1827	"" []	5997192	\N	\N	EFO	8	EFO	disease	Acromelic frontonasal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1827	"" []	5181811	\N	\N	EFO	7	EFO	skeletal system disease	Acromelic frontonasal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1827	"" []	5181812	\N	\N	EFO	7	EFO	genetic disorder	Acromelic frontonasal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1827	"" []	6470090	\N	\N	EFO	9	EFO	disposition	Acromelic frontonasal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1827	"" []	5997191	\N	\N	EFO	8	EFO	disease	Acromelic frontonasal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1827	"" []	6848349	\N	\N	EFO	10	EFO	material property	Acromelic frontonasal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1827	"" []	7068403	\N	\N	EFO	11	EFO	experimental factor	Acromelic frontonasal dysplasia
Orphanet:1830	\N	\N	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	74149	\N	\N	EFO	0	EFO	Schimke immuno-osseous dysplasia	Schimke immuno-osseous dysplasia
Orphanet:102373	Orphanet:1830	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	215882	\N	\N	EFO	1	EFO	Primary glomerular disease	Schimke immuno-osseous dysplasia
Orphanet:169349	Orphanet:1830	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	215883	\N	\N	EFO	1	EFO	Immuno-osseous dysplasia	Schimke immuno-osseous dysplasia
Orphanet:180766	Orphanet:1830	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	215884	\N	\N	EFO	1	EFO	Malformative syndrome with dentinogenesis imperfecta	Schimke immuno-osseous dysplasia
Orphanet:253	Orphanet:1830	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	215885	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Schimke immuno-osseous dysplasia
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	570162	\N	\N	EFO	2	EFO	Genetic glomerular disease	Schimke immuno-osseous dysplasia
Orphanet:331217	Orphanet:169349	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	570163	\N	\N	EFO	2	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Schimke immuno-osseous dysplasia
Orphanet:77830	Orphanet:180766	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	570164	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Schimke immuno-osseous dysplasia
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	570165	\N	\N	EFO	2	EFO	Primary bone dysplasia	Schimke immuno-osseous dysplasia
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	1152109	\N	\N	EFO	3	EFO	Rare genetic renal disease	Schimke immuno-osseous dysplasia
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	1152110	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Schimke immuno-osseous dysplasia
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	1152111	\N	\N	EFO	3	EFO	genetic disorder	Schimke immuno-osseous dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	1152112	\N	\N	EFO	3	EFO	Rare genetic bone disease	Schimke immuno-osseous dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	1152113	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Schimke immuno-osseous dysplasia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	2034587	\N	\N	EFO	4	EFO	genetic disorder	Schimke immuno-osseous dysplasia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	2034588	\N	\N	EFO	4	EFO	Primary immunodeficiency	Schimke immuno-osseous dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	5411393	\N	\N	EFO	7	EFO	disease	Schimke immuno-osseous dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	2034590	\N	\N	EFO	4	EFO	genetic disorder	Schimke immuno-osseous dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	2034591	\N	\N	EFO	4	EFO	bone disease	Schimke immuno-osseous dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	2034592	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Schimke immuno-osseous dysplasia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	3185085	\N	\N	EFO	5	EFO	Rare genetic immune disease	Schimke immuno-osseous dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	5817524	\N	\N	EFO	8	EFO	disposition	Schimke immuno-osseous dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	3185087	\N	\N	EFO	5	EFO	skeletal system disease	Schimke immuno-osseous dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	3185088	\N	\N	EFO	5	EFO	genetic disorder	Schimke immuno-osseous dysplasia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	4392680	\N	\N	EFO	6	EFO	genetic disorder	Schimke immuno-osseous dysplasia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	4392681	\N	\N	EFO	6	EFO	immune system disease	Schimke immuno-osseous dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	6409892	\N	\N	EFO	9	EFO	material property	Schimke immuno-osseous dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	4392683	\N	\N	EFO	6	EFO	disease	Schimke immuno-osseous dysplasia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	5411394	\N	\N	EFO	7	EFO	disease	Schimke immuno-osseous dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1830	"Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." []	6807741	\N	\N	EFO	10	EFO	experimental factor	Schimke immuno-osseous dysplasia
Orphanet:1832	\N	\N	"" []	Orphanet:1832	"" []	74150	\N	\N	EFO	0	EFO	Lethal osteosclerotic bone dysplasia	Lethal osteosclerotic bone dysplasia
Orphanet:93443	Orphanet:1832	\N	"" []	Orphanet:1832	"" []	215886	\N	\N	EFO	1	EFO	Neonatal osteosclerotic dysplasia	Lethal osteosclerotic bone dysplasia
Orphanet:93444	Orphanet:93443	\N	"" []	Orphanet:1832	"" []	570166	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Lethal osteosclerotic bone dysplasia
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:1832	"" []	1152114	\N	\N	EFO	3	EFO	Primary bone dysplasia	Lethal osteosclerotic bone dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1832	"" []	2034593	\N	\N	EFO	4	EFO	Rare genetic bone disease	Lethal osteosclerotic bone dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1832	"" []	2034594	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Lethal osteosclerotic bone dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1832	"" []	3185089	\N	\N	EFO	5	EFO	genetic disorder	Lethal osteosclerotic bone dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1832	"" []	3185090	\N	\N	EFO	5	EFO	bone disease	Lethal osteosclerotic bone dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1832	"" []	3185091	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lethal osteosclerotic bone dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1832	"" []	5411398	\N	\N	EFO	7	EFO	disease	Lethal osteosclerotic bone dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1832	"" []	4392686	\N	\N	EFO	6	EFO	skeletal system disease	Lethal osteosclerotic bone dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1832	"" []	4392687	\N	\N	EFO	6	EFO	genetic disorder	Lethal osteosclerotic bone dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1832	"" []	5997194	\N	\N	EFO	8	EFO	disposition	Lethal osteosclerotic bone dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1832	"" []	5411397	\N	\N	EFO	7	EFO	disease	Lethal osteosclerotic bone dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1832	"" []	6550700	\N	\N	EFO	9	EFO	material property	Lethal osteosclerotic bone dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1832	"" []	6889087	\N	\N	EFO	10	EFO	experimental factor	Lethal osteosclerotic bone dysplasia
Orphanet:1834	\N	\N	"" []	Orphanet:1834	"" []	74151	\N	\N	EFO	0	EFO	Axial mesodermal dysplasia spectrum	Axial mesodermal dysplasia spectrum
Orphanet:117573	Orphanet:1834	\N	"" []	Orphanet:1834	"" []	215887	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Axial mesodermal dysplasia spectrum
Orphanet:93547	Orphanet:1834	\N	"" []	Orphanet:1834	"" []	215888	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Axial mesodermal dysplasia spectrum
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:1834	"" []	570167	\N	\N	EFO	2	EFO	Anorectal malformation	Axial mesodermal dysplasia spectrum
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1834	"" []	570168	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Axial mesodermal dysplasia spectrum
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:1834	"" []	1152115	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Axial mesodermal dysplasia spectrum
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1834	"" []	1152116	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Axial mesodermal dysplasia spectrum
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1834	"" []	1152117	\N	\N	EFO	3	EFO	Rare genetic renal disease	Axial mesodermal dysplasia spectrum
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:1834	"" []	2034595	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Axial mesodermal dysplasia spectrum
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1834	"" []	3185092	\N	\N	EFO	5	EFO	genetic disorder	Axial mesodermal dysplasia spectrum
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1834	"" []	2034597	\N	\N	EFO	4	EFO	genetic disorder	Axial mesodermal dysplasia spectrum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1834	"" []	4133420	\N	\N	EFO	6	EFO	disease	Axial mesodermal dysplasia spectrum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1834	"" []	5181814	\N	\N	EFO	7	EFO	disposition	Axial mesodermal dysplasia spectrum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1834	"" []	5997195	\N	\N	EFO	8	EFO	material property	Axial mesodermal dysplasia spectrum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1834	"" []	6550701	\N	\N	EFO	9	EFO	experimental factor	Axial mesodermal dysplasia spectrum
Orphanet:183422	\N	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:183422	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	74152	\N	\N	EFO	0	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Polymalformative genetic syndrome with increased risk of developing cancer
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:183422	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	215889	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Polymalformative genetic syndrome with increased risk of developing cancer
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183422	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	570169	\N	\N	EFO	2	EFO	genetic disorder	Polymalformative genetic syndrome with increased risk of developing cancer
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183422	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	1152118	\N	\N	EFO	3	EFO	disease	Polymalformative genetic syndrome with increased risk of developing cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183422	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	2034598	\N	\N	EFO	4	EFO	disposition	Polymalformative genetic syndrome with increased risk of developing cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183422	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	3185094	\N	\N	EFO	5	EFO	material property	Polymalformative genetic syndrome with increased risk of developing cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183422	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	4392689	\N	\N	EFO	6	EFO	experimental factor	Polymalformative genetic syndrome with increased risk of developing cancer
Orphanet:183426	\N	\N	"" []	Orphanet:183426	"" []	74153	\N	\N	EFO	0	EFO	Genetic epidermal disorder	Genetic epidermal disorder
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:183426	"" []	215890	\N	\N	EFO	1	EFO	Rare genetic skin disease	Genetic epidermal disorder
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183426	"" []	570170	\N	\N	EFO	2	EFO	genetic disorder	Genetic epidermal disorder
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183426	"" []	570171	\N	\N	EFO	2	EFO	skin disease	Genetic epidermal disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183426	"" []	1152119	\N	\N	EFO	3	EFO	disease	Genetic epidermal disorder
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183426	"" []	1152120	\N	\N	EFO	3	EFO	disease	Genetic epidermal disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183426	"" []	2034599	\N	\N	EFO	4	EFO	disposition	Genetic epidermal disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183426	"" []	3185095	\N	\N	EFO	5	EFO	material property	Genetic epidermal disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183426	"" []	4392690	\N	\N	EFO	6	EFO	experimental factor	Genetic epidermal disorder
Orphanet:183435	\N	\N	"" []	Orphanet:183435	"" []	74154	\N	\N	EFO	0	EFO	Inherited ichthyosis	Inherited ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:183435	"" []	215891	\N	\N	EFO	1	EFO	Genetic epidermal disorder	Inherited ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:183435	"" []	570172	\N	\N	EFO	2	EFO	Rare genetic skin disease	Inherited ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183435	"" []	1152121	\N	\N	EFO	3	EFO	genetic disorder	Inherited ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183435	"" []	1152122	\N	\N	EFO	3	EFO	skin disease	Inherited ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183435	"" []	2034600	\N	\N	EFO	4	EFO	disease	Inherited ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183435	"" []	2034601	\N	\N	EFO	4	EFO	disease	Inherited ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183435	"" []	3185096	\N	\N	EFO	5	EFO	disposition	Inherited ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183435	"" []	4392691	\N	\N	EFO	6	EFO	material property	Inherited ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183435	"" []	5411400	\N	\N	EFO	7	EFO	experimental factor	Inherited ichthyosis
Orphanet:183438	\N	\N	"" []	Orphanet:183438	"" []	74155	\N	\N	EFO	0	EFO	Genetic erythrokeratoderma	Genetic erythrokeratoderma
Orphanet:183426	Orphanet:183438	\N	"" []	Orphanet:183438	"" []	215892	\N	\N	EFO	1	EFO	Genetic epidermal disorder	Genetic erythrokeratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:183438	"" []	570173	\N	\N	EFO	2	EFO	Rare genetic skin disease	Genetic erythrokeratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183438	"" []	1152123	\N	\N	EFO	3	EFO	genetic disorder	Genetic erythrokeratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183438	"" []	1152124	\N	\N	EFO	3	EFO	skin disease	Genetic erythrokeratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183438	"" []	2034602	\N	\N	EFO	4	EFO	disease	Genetic erythrokeratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183438	"" []	2034603	\N	\N	EFO	4	EFO	disease	Genetic erythrokeratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183438	"" []	3185097	\N	\N	EFO	5	EFO	disposition	Genetic erythrokeratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183438	"" []	4392692	\N	\N	EFO	6	EFO	material property	Genetic erythrokeratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183438	"" []	5411401	\N	\N	EFO	7	EFO	experimental factor	Genetic erythrokeratoderma
Orphanet:183441	\N	\N	"" []	Orphanet:183441	"" []	74156	\N	\N	EFO	0	EFO	Genetic acrokeratoderma	Genetic acrokeratoderma
Orphanet:183426	Orphanet:183441	\N	"" []	Orphanet:183441	"" []	215893	\N	\N	EFO	1	EFO	Genetic epidermal disorder	Genetic acrokeratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:183441	"" []	570174	\N	\N	EFO	2	EFO	Rare genetic skin disease	Genetic acrokeratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183441	"" []	1152125	\N	\N	EFO	3	EFO	genetic disorder	Genetic acrokeratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183441	"" []	1152126	\N	\N	EFO	3	EFO	skin disease	Genetic acrokeratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183441	"" []	2034604	\N	\N	EFO	4	EFO	disease	Genetic acrokeratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183441	"" []	2034605	\N	\N	EFO	4	EFO	disease	Genetic acrokeratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183441	"" []	3185098	\N	\N	EFO	5	EFO	disposition	Genetic acrokeratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183441	"" []	4392693	\N	\N	EFO	6	EFO	material property	Genetic acrokeratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183441	"" []	5411402	\N	\N	EFO	7	EFO	experimental factor	Genetic acrokeratoderma
Orphanet:183444	\N	\N	"" []	Orphanet:183444	"" []	74157	\N	\N	EFO	0	EFO	Genetic porokeratosis	Genetic porokeratosis
Orphanet:183426	Orphanet:183444	\N	"" []	Orphanet:183444	"" []	215894	\N	\N	EFO	1	EFO	Genetic epidermal disorder	Genetic porokeratosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:183444	"" []	570175	\N	\N	EFO	2	EFO	Rare genetic skin disease	Genetic porokeratosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183444	"" []	1152127	\N	\N	EFO	3	EFO	genetic disorder	Genetic porokeratosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183444	"" []	1152128	\N	\N	EFO	3	EFO	skin disease	Genetic porokeratosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183444	"" []	2034606	\N	\N	EFO	4	EFO	disease	Genetic porokeratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183444	"" []	2034607	\N	\N	EFO	4	EFO	disease	Genetic porokeratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183444	"" []	3185099	\N	\N	EFO	5	EFO	disposition	Genetic porokeratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183444	"" []	4392694	\N	\N	EFO	6	EFO	material property	Genetic porokeratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183444	"" []	5411403	\N	\N	EFO	7	EFO	experimental factor	Genetic porokeratosis
Orphanet:183447	\N	\N	"" []	Orphanet:183447	"" []	74158	\N	\N	EFO	0	EFO	Genetic epidermal appendage anomaly	Genetic epidermal appendage anomaly
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:183447	"" []	215895	\N	\N	EFO	1	EFO	Rare genetic skin disease	Genetic epidermal appendage anomaly
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183447	"" []	570176	\N	\N	EFO	2	EFO	genetic disorder	Genetic epidermal appendage anomaly
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183447	"" []	570177	\N	\N	EFO	2	EFO	skin disease	Genetic epidermal appendage anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183447	"" []	1152129	\N	\N	EFO	3	EFO	disease	Genetic epidermal appendage anomaly
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183447	"" []	1152130	\N	\N	EFO	3	EFO	disease	Genetic epidermal appendage anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183447	"" []	2034608	\N	\N	EFO	4	EFO	disposition	Genetic epidermal appendage anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183447	"" []	3185100	\N	\N	EFO	5	EFO	material property	Genetic epidermal appendage anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183447	"" []	4392695	\N	\N	EFO	6	EFO	experimental factor	Genetic epidermal appendage anomaly
Orphanet:183450	\N	\N	"" []	Orphanet:183450	"" []	74159	\N	\N	EFO	0	EFO	Genetic hair anomaly	Genetic hair anomaly
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:183450	"" []	215896	\N	\N	EFO	1	EFO	Genetic epidermal appendage anomaly	Genetic hair anomaly
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:183450	"" []	570178	\N	\N	EFO	2	EFO	Rare genetic skin disease	Genetic hair anomaly
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183450	"" []	1152131	\N	\N	EFO	3	EFO	genetic disorder	Genetic hair anomaly
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183450	"" []	1152132	\N	\N	EFO	3	EFO	skin disease	Genetic hair anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183450	"" []	2034609	\N	\N	EFO	4	EFO	disease	Genetic hair anomaly
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183450	"" []	2034610	\N	\N	EFO	4	EFO	disease	Genetic hair anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183450	"" []	3185101	\N	\N	EFO	5	EFO	disposition	Genetic hair anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183450	"" []	4392696	\N	\N	EFO	6	EFO	material property	Genetic hair anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183450	"" []	5411404	\N	\N	EFO	7	EFO	experimental factor	Genetic hair anomaly
Orphanet:183454	\N	\N	"" []	Orphanet:183454	"" []	74160	\N	\N	EFO	0	EFO	Genetic nail anomaly	Genetic nail anomaly
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:183454	"" []	215897	\N	\N	EFO	1	EFO	Genetic epidermal appendage anomaly	Genetic nail anomaly
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:183454	"" []	570179	\N	\N	EFO	2	EFO	Rare genetic skin disease	Genetic nail anomaly
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183454	"" []	1152133	\N	\N	EFO	3	EFO	genetic disorder	Genetic nail anomaly
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183454	"" []	1152134	\N	\N	EFO	3	EFO	skin disease	Genetic nail anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183454	"" []	2034611	\N	\N	EFO	4	EFO	disease	Genetic nail anomaly
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183454	"" []	2034612	\N	\N	EFO	4	EFO	disease	Genetic nail anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183454	"" []	3185102	\N	\N	EFO	5	EFO	disposition	Genetic nail anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183454	"" []	4392697	\N	\N	EFO	6	EFO	material property	Genetic nail anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183454	"" []	5411405	\N	\N	EFO	7	EFO	experimental factor	Genetic nail anomaly
Orphanet:183460	\N	\N	"" []	Orphanet:183460	"" []	74161	\N	\N	EFO	0	EFO	Genetic sebaceous gland anomaly	Genetic sebaceous gland anomaly
Orphanet:183447	Orphanet:183460	\N	"" []	Orphanet:183460	"" []	215898	\N	\N	EFO	1	EFO	Genetic epidermal appendage anomaly	Genetic sebaceous gland anomaly
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:183460	"" []	570180	\N	\N	EFO	2	EFO	Rare genetic skin disease	Genetic sebaceous gland anomaly
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183460	"" []	1152135	\N	\N	EFO	3	EFO	genetic disorder	Genetic sebaceous gland anomaly
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183460	"" []	1152136	\N	\N	EFO	3	EFO	skin disease	Genetic sebaceous gland anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183460	"" []	2034613	\N	\N	EFO	4	EFO	disease	Genetic sebaceous gland anomaly
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183460	"" []	2034614	\N	\N	EFO	4	EFO	disease	Genetic sebaceous gland anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183460	"" []	3185103	\N	\N	EFO	5	EFO	disposition	Genetic sebaceous gland anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183460	"" []	4392698	\N	\N	EFO	6	EFO	material property	Genetic sebaceous gland anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183460	"" []	5411406	\N	\N	EFO	7	EFO	experimental factor	Genetic sebaceous gland anomaly
Orphanet:183463	\N	\N	"" []	Orphanet:183463	"" []	74162	\N	\N	EFO	0	EFO	Genetic pigmentation anomaly of the skin	Genetic pigmentation anomaly of the skin
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:183463	"" []	215899	\N	\N	EFO	1	EFO	Rare genetic skin disease	Genetic pigmentation anomaly of the skin
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183463	"" []	570181	\N	\N	EFO	2	EFO	genetic disorder	Genetic pigmentation anomaly of the skin
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183463	"" []	570182	\N	\N	EFO	2	EFO	skin disease	Genetic pigmentation anomaly of the skin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183463	"" []	1152137	\N	\N	EFO	3	EFO	disease	Genetic pigmentation anomaly of the skin
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183463	"" []	1152138	\N	\N	EFO	3	EFO	disease	Genetic pigmentation anomaly of the skin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183463	"" []	2034615	\N	\N	EFO	4	EFO	disposition	Genetic pigmentation anomaly of the skin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183463	"" []	3185104	\N	\N	EFO	5	EFO	material property	Genetic pigmentation anomaly of the skin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183463	"" []	4392699	\N	\N	EFO	6	EFO	experimental factor	Genetic pigmentation anomaly of the skin
Orphanet:183466	\N	\N	"" []	Orphanet:183466	"" []	74163	\N	\N	EFO	0	EFO	Genetic hyperpigmentation of the skin	Genetic hyperpigmentation of the skin
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:183466	"" []	215900	\N	\N	EFO	1	EFO	Genetic pigmentation anomaly of the skin	Genetic hyperpigmentation of the skin
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:183466	"" []	570183	\N	\N	EFO	2	EFO	Rare genetic skin disease	Genetic hyperpigmentation of the skin
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183466	"" []	1152139	\N	\N	EFO	3	EFO	genetic disorder	Genetic hyperpigmentation of the skin
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183466	"" []	1152140	\N	\N	EFO	3	EFO	skin disease	Genetic hyperpigmentation of the skin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183466	"" []	2034616	\N	\N	EFO	4	EFO	disease	Genetic hyperpigmentation of the skin
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183466	"" []	2034617	\N	\N	EFO	4	EFO	disease	Genetic hyperpigmentation of the skin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183466	"" []	3185105	\N	\N	EFO	5	EFO	disposition	Genetic hyperpigmentation of the skin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183466	"" []	4392700	\N	\N	EFO	6	EFO	material property	Genetic hyperpigmentation of the skin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183466	"" []	5411407	\N	\N	EFO	7	EFO	experimental factor	Genetic hyperpigmentation of the skin
Orphanet:183469	\N	\N	"" []	Orphanet:183469	"" []	74164	\N	\N	EFO	0	EFO	Genetic hypopigmentation of the skin	Genetic hypopigmentation of the skin
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:183469	"" []	215901	\N	\N	EFO	1	EFO	Genetic pigmentation anomaly of the skin	Genetic hypopigmentation of the skin
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:183469	"" []	570184	\N	\N	EFO	2	EFO	Rare genetic skin disease	Genetic hypopigmentation of the skin
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183469	"" []	1152141	\N	\N	EFO	3	EFO	genetic disorder	Genetic hypopigmentation of the skin
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183469	"" []	1152142	\N	\N	EFO	3	EFO	skin disease	Genetic hypopigmentation of the skin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183469	"" []	2034618	\N	\N	EFO	4	EFO	disease	Genetic hypopigmentation of the skin
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183469	"" []	2034619	\N	\N	EFO	4	EFO	disease	Genetic hypopigmentation of the skin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183469	"" []	3185106	\N	\N	EFO	5	EFO	disposition	Genetic hypopigmentation of the skin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183469	"" []	4392701	\N	\N	EFO	6	EFO	material property	Genetic hypopigmentation of the skin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183469	"" []	5411408	\N	\N	EFO	7	EFO	experimental factor	Genetic hypopigmentation of the skin
Orphanet:183472	\N	\N	"" []	Orphanet:183472	"" []	74165	\N	\N	EFO	0	EFO	Genetic dermis disorder	Genetic dermis disorder
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:183472	"" []	215902	\N	\N	EFO	1	EFO	Rare genetic skin disease	Genetic dermis disorder
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183472	"" []	570185	\N	\N	EFO	2	EFO	genetic disorder	Genetic dermis disorder
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183472	"" []	570186	\N	\N	EFO	2	EFO	skin disease	Genetic dermis disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183472	"" []	1152143	\N	\N	EFO	3	EFO	disease	Genetic dermis disorder
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183472	"" []	1152144	\N	\N	EFO	3	EFO	disease	Genetic dermis disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183472	"" []	2034620	\N	\N	EFO	4	EFO	disposition	Genetic dermis disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183472	"" []	3185107	\N	\N	EFO	5	EFO	material property	Genetic dermis disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183472	"" []	4392702	\N	\N	EFO	6	EFO	experimental factor	Genetic dermis disorder
Orphanet:183478	\N	\N	"" []	Orphanet:183478	"" []	74166	\N	\N	EFO	0	EFO	Genetic skin vascular disorder	Genetic skin vascular disorder
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:183478	"" []	215903	\N	\N	EFO	1	EFO	Genetic dermis disorder	Genetic skin vascular disorder
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:183478	"" []	570187	\N	\N	EFO	2	EFO	Rare genetic skin disease	Genetic skin vascular disorder
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183478	"" []	1152145	\N	\N	EFO	3	EFO	genetic disorder	Genetic skin vascular disorder
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183478	"" []	1152146	\N	\N	EFO	3	EFO	skin disease	Genetic skin vascular disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183478	"" []	2034621	\N	\N	EFO	4	EFO	disease	Genetic skin vascular disorder
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183478	"" []	2034622	\N	\N	EFO	4	EFO	disease	Genetic skin vascular disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183478	"" []	3185108	\N	\N	EFO	5	EFO	disposition	Genetic skin vascular disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183478	"" []	4392703	\N	\N	EFO	6	EFO	material property	Genetic skin vascular disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183478	"" []	5411409	\N	\N	EFO	7	EFO	experimental factor	Genetic skin vascular disorder
Orphanet:183481	\N	\N	"" []	Orphanet:183481	"" []	74167	\N	\N	EFO	0	EFO	Genetic mixed dermis disorder	Genetic mixed dermis disorder
Orphanet:183472	Orphanet:183481	\N	"" []	Orphanet:183481	"" []	215904	\N	\N	EFO	1	EFO	Genetic dermis disorder	Genetic mixed dermis disorder
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:183481	"" []	570188	\N	\N	EFO	2	EFO	Rare genetic skin disease	Genetic mixed dermis disorder
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183481	"" []	1152147	\N	\N	EFO	3	EFO	genetic disorder	Genetic mixed dermis disorder
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183481	"" []	1152148	\N	\N	EFO	3	EFO	skin disease	Genetic mixed dermis disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183481	"" []	2034623	\N	\N	EFO	4	EFO	disease	Genetic mixed dermis disorder
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183481	"" []	2034624	\N	\N	EFO	4	EFO	disease	Genetic mixed dermis disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183481	"" []	3185109	\N	\N	EFO	5	EFO	disposition	Genetic mixed dermis disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183481	"" []	4392704	\N	\N	EFO	6	EFO	material property	Genetic mixed dermis disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183481	"" []	5411410	\N	\N	EFO	7	EFO	experimental factor	Genetic mixed dermis disorder
Orphanet:183484	\N	\N	"" []	Orphanet:183484	"" []	74168	\N	\N	EFO	0	EFO	Genetic subcutaneous tissue disorder	Genetic subcutaneous tissue disorder
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:183484	"" []	215905	\N	\N	EFO	1	EFO	Rare genetic skin disease	Genetic subcutaneous tissue disorder
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183484	"" []	570189	\N	\N	EFO	2	EFO	genetic disorder	Genetic subcutaneous tissue disorder
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183484	"" []	570190	\N	\N	EFO	2	EFO	skin disease	Genetic subcutaneous tissue disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183484	"" []	1152149	\N	\N	EFO	3	EFO	disease	Genetic subcutaneous tissue disorder
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183484	"" []	1152150	\N	\N	EFO	3	EFO	disease	Genetic subcutaneous tissue disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183484	"" []	2034625	\N	\N	EFO	4	EFO	disposition	Genetic subcutaneous tissue disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183484	"" []	3185110	\N	\N	EFO	5	EFO	material property	Genetic subcutaneous tissue disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183484	"" []	4392705	\N	\N	EFO	6	EFO	experimental factor	Genetic subcutaneous tissue disorder
Orphanet:183487	\N	\N	"" []	Orphanet:183487	"" []	74169	\N	\N	EFO	0	EFO	Genetic skin tumor	Genetic skin tumor
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:183487	"" []	215906	\N	\N	EFO	1	EFO	skin neoplasm	Genetic skin tumor
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:183487	"" []	215907	\N	\N	EFO	1	EFO	Rare genetic tumor	Genetic skin tumor
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:183487	"" []	570191	\N	\N	EFO	2	EFO	neoplasm	Genetic skin tumor
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183487	"" []	570192	\N	\N	EFO	2	EFO	skin disease	Genetic skin tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183487	"" []	570193	\N	\N	EFO	2	EFO	genetic disorder	Genetic skin tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:183487	"" []	570194	\N	\N	EFO	2	EFO	neoplasm	Genetic skin tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183487	"" []	1152151	\N	\N	EFO	3	EFO	disease	Genetic skin tumor
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183487	"" []	1152152	\N	\N	EFO	3	EFO	disease	Genetic skin tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183487	"" []	1152153	\N	\N	EFO	3	EFO	disease	Genetic skin tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183487	"" []	2034626	\N	\N	EFO	4	EFO	disposition	Genetic skin tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183487	"" []	3185111	\N	\N	EFO	5	EFO	material property	Genetic skin tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183487	"" []	4392706	\N	\N	EFO	6	EFO	experimental factor	Genetic skin tumor
Orphanet:183490	\N	\N	"" []	Orphanet:183490	"" []	74170	\N	\N	EFO	0	EFO	Genetic photodermatosis	Genetic photodermatosis
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:183490	"" []	215908	\N	\N	EFO	1	EFO	Rare genetic skin disease	Genetic photodermatosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183490	"" []	570195	\N	\N	EFO	2	EFO	genetic disorder	Genetic photodermatosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183490	"" []	570196	\N	\N	EFO	2	EFO	skin disease	Genetic photodermatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183490	"" []	1152154	\N	\N	EFO	3	EFO	disease	Genetic photodermatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183490	"" []	1152155	\N	\N	EFO	3	EFO	disease	Genetic photodermatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183490	"" []	2034627	\N	\N	EFO	4	EFO	disposition	Genetic photodermatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183490	"" []	3185112	\N	\N	EFO	5	EFO	material property	Genetic photodermatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183490	"" []	4392707	\N	\N	EFO	6	EFO	experimental factor	Genetic photodermatosis
Orphanet:183494	\N	\N	"" []	Orphanet:183494	"" []	74171	\N	\N	EFO	0	EFO	Genetic immune deficiency with skin involvement	Genetic immune deficiency with skin involvement
Orphanet:68346	Orphanet:183494	\N	"" []	Orphanet:183494	"" []	215909	\N	\N	EFO	1	EFO	Rare genetic skin disease	Genetic immune deficiency with skin involvement
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183494	"" []	570197	\N	\N	EFO	2	EFO	genetic disorder	Genetic immune deficiency with skin involvement
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183494	"" []	570198	\N	\N	EFO	2	EFO	skin disease	Genetic immune deficiency with skin involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183494	"" []	1152156	\N	\N	EFO	3	EFO	disease	Genetic immune deficiency with skin involvement
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183494	"" []	1152157	\N	\N	EFO	3	EFO	disease	Genetic immune deficiency with skin involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183494	"" []	2034628	\N	\N	EFO	4	EFO	disposition	Genetic immune deficiency with skin involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183494	"" []	3185113	\N	\N	EFO	5	EFO	material property	Genetic immune deficiency with skin involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183494	"" []	4392708	\N	\N	EFO	6	EFO	experimental factor	Genetic immune deficiency with skin involvement
Orphanet:183497	\N	\N	"" []	Orphanet:183497	"" []	74172	\N	\N	EFO	0	EFO	Genetic neuromuscular disease	Genetic neuromuscular disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:183497	"" []	215910	\N	\N	EFO	1	EFO	muscular disease	Genetic neuromuscular disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:183497	"" []	215911	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Genetic neuromuscular disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:183497	"" []	570199	\N	\N	EFO	2	EFO	skeletal system disease	Genetic neuromuscular disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183497	"" []	570200	\N	\N	EFO	2	EFO	genetic disorder	Genetic neuromuscular disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183497	"" []	1152158	\N	\N	EFO	3	EFO	disease	Genetic neuromuscular disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183497	"" []	1152159	\N	\N	EFO	3	EFO	disease	Genetic neuromuscular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183497	"" []	2034629	\N	\N	EFO	4	EFO	disposition	Genetic neuromuscular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183497	"" []	3185114	\N	\N	EFO	5	EFO	material property	Genetic neuromuscular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183497	"" []	4392709	\N	\N	EFO	6	EFO	experimental factor	Genetic neuromuscular disease
Orphanet:183500	\N	\N	"" []	Orphanet:183500	"" []	74173	\N	\N	EFO	0	EFO	Genetic neurodegenerative disease	Genetic neurodegenerative disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:183500	"" []	215912	\N	\N	EFO	1	EFO	neurodegenerative disease	Genetic neurodegenerative disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:183500	"" []	215913	\N	\N	EFO	1	EFO	brain disease	Genetic neurodegenerative disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:183500	"" []	215914	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Genetic neurodegenerative disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:183500	"" []	570201	\N	\N	EFO	2	EFO	nervous system disease	Genetic neurodegenerative disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:183500	"" []	570202	\N	\N	EFO	2	EFO	nervous system disease	Genetic neurodegenerative disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183500	"" []	570203	\N	\N	EFO	2	EFO	genetic disorder	Genetic neurodegenerative disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183500	"" []	1152160	\N	\N	EFO	3	EFO	disease	Genetic neurodegenerative disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183500	"" []	1152161	\N	\N	EFO	3	EFO	disease	Genetic neurodegenerative disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183500	"" []	2034630	\N	\N	EFO	4	EFO	disposition	Genetic neurodegenerative disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183500	"" []	3185115	\N	\N	EFO	5	EFO	material property	Genetic neurodegenerative disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183500	"" []	4392710	\N	\N	EFO	6	EFO	experimental factor	Genetic neurodegenerative disease
Orphanet:183503	\N	\N	"" []	Orphanet:183503	"" []	74174	\N	\N	EFO	0	EFO	Genetic central nervous system and retinal vascular disease	Genetic central nervous system and retinal vascular disease
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:183503	"" []	215915	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Genetic central nervous system and retinal vascular disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183503	"" []	570204	\N	\N	EFO	2	EFO	genetic disorder	Genetic central nervous system and retinal vascular disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183503	"" []	1152162	\N	\N	EFO	3	EFO	disease	Genetic central nervous system and retinal vascular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183503	"" []	2034631	\N	\N	EFO	4	EFO	disposition	Genetic central nervous system and retinal vascular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183503	"" []	3185116	\N	\N	EFO	5	EFO	material property	Genetic central nervous system and retinal vascular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183503	"" []	4392711	\N	\N	EFO	6	EFO	experimental factor	Genetic central nervous system and retinal vascular disease
Orphanet:183506	\N	\N	"" []	Orphanet:183506	"" []	74175	\N	\N	EFO	0	EFO	Genetic central nervous system malformation	Genetic central nervous system malformation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:183506	"" []	215916	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic central nervous system malformation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:183506	"" []	215917	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Genetic central nervous system malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183506	"" []	570205	\N	\N	EFO	2	EFO	genetic disorder	Genetic central nervous system malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183506	"" []	570206	\N	\N	EFO	2	EFO	genetic disorder	Genetic central nervous system malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183506	"" []	1152163	\N	\N	EFO	3	EFO	disease	Genetic central nervous system malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183506	"" []	2034632	\N	\N	EFO	4	EFO	disposition	Genetic central nervous system malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183506	"" []	3185117	\N	\N	EFO	5	EFO	material property	Genetic central nervous system malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183506	"" []	4392712	\N	\N	EFO	6	EFO	experimental factor	Genetic central nervous system malformation
Orphanet:183509	\N	\N	"" []	Orphanet:183509	"" []	74176	\N	\N	EFO	0	EFO	Rare genetic headache	Rare genetic headache
EFO:0000524	Orphanet:183509	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	Orphanet:183509	"" []	215918	\N	\N	EFO	1	EFO	head disease	Rare genetic headache
Orphanet:71859	Orphanet:183509	\N	"" []	Orphanet:183509	"" []	215919	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Rare genetic headache
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183509	"" []	570207	\N	\N	EFO	2	EFO	disease	Rare genetic headache
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183509	"" []	570208	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic headache
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183509	"" []	2034634	\N	\N	EFO	4	EFO	disposition	Rare genetic headache
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183509	"" []	1152165	\N	\N	EFO	3	EFO	disease	Rare genetic headache
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183509	"" []	3000168	\N	\N	EFO	5	EFO	material property	Rare genetic headache
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183509	"" []	4133421	\N	\N	EFO	6	EFO	experimental factor	Rare genetic headache
Orphanet:183512	\N	\N	"" []	Orphanet:183512	"" []	74177	\N	\N	EFO	0	EFO	Rare genetic epilepsy	Rare genetic epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:183512	"" []	215920	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Rare genetic epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183512	"" []	570209	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183512	"" []	1152166	\N	\N	EFO	3	EFO	disease	Rare genetic epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183512	"" []	2034635	\N	\N	EFO	4	EFO	disposition	Rare genetic epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183512	"" []	3185119	\N	\N	EFO	5	EFO	material property	Rare genetic epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183512	"" []	4392713	\N	\N	EFO	6	EFO	experimental factor	Rare genetic epilepsy
Orphanet:183515	\N	\N	"" []	Orphanet:183515	"" []	74178	\N	\N	EFO	0	EFO	Rare genetic medullar disease	Rare genetic medullar disease
Orphanet:71859	Orphanet:183515	\N	"" []	Orphanet:183515	"" []	215921	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Rare genetic medullar disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183515	"" []	570210	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic medullar disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183515	"" []	1152167	\N	\N	EFO	3	EFO	disease	Rare genetic medullar disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183515	"" []	2034636	\N	\N	EFO	4	EFO	disposition	Rare genetic medullar disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183515	"" []	3185120	\N	\N	EFO	5	EFO	material property	Rare genetic medullar disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183515	"" []	4392714	\N	\N	EFO	6	EFO	experimental factor	Rare genetic medullar disease
Orphanet:183518	\N	\N	"" []	Orphanet:183518	"" []	74179	\N	\N	EFO	0	EFO	Rare hereditary ataxia	Rare hereditary ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:183518	"" []	215922	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Rare hereditary ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183518	"" []	570211	\N	\N	EFO	2	EFO	genetic disorder	Rare hereditary ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183518	"" []	1152168	\N	\N	EFO	3	EFO	disease	Rare hereditary ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183518	"" []	2034637	\N	\N	EFO	4	EFO	disposition	Rare hereditary ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183518	"" []	3185121	\N	\N	EFO	5	EFO	material property	Rare hereditary ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183518	"" []	4392715	\N	\N	EFO	6	EFO	experimental factor	Rare hereditary ataxia
Orphanet:183521	\N	\N	"" []	Orphanet:183521	"" []	74180	\N	\N	EFO	0	EFO	Rare genetic movement disorder	Rare genetic movement disorder
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:183521	"" []	215923	\N	\N	EFO	1	EFO	movement disorder	Rare genetic movement disorder
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:183521	"" []	215924	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Rare genetic movement disorder
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:183521	"" []	570212	\N	\N	EFO	2	EFO	nervous system disease	Rare genetic movement disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183521	"" []	570213	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic movement disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183521	"" []	1152169	\N	\N	EFO	3	EFO	disease	Rare genetic movement disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183521	"" []	1152170	\N	\N	EFO	3	EFO	disease	Rare genetic movement disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183521	"" []	2034638	\N	\N	EFO	4	EFO	disposition	Rare genetic movement disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183521	"" []	3185122	\N	\N	EFO	5	EFO	material property	Rare genetic movement disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183521	"" []	4392716	\N	\N	EFO	6	EFO	experimental factor	Rare genetic movement disorder
Orphanet:183524	\N	\N	"" []	Orphanet:183524	"" []	74181	\N	\N	EFO	0	EFO	Rare genetic bone disease	Rare genetic bone disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183524	"" []	215925	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic bone disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:183524	"" []	215926	\N	\N	EFO	1	EFO	bone disease	Rare genetic bone disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183524	"" []	570214	\N	\N	EFO	2	EFO	disease	Rare genetic bone disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:183524	"" []	570215	\N	\N	EFO	2	EFO	skeletal system disease	Rare genetic bone disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183524	"" []	2034640	\N	\N	EFO	4	EFO	disposition	Rare genetic bone disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183524	"" []	1152172	\N	\N	EFO	3	EFO	disease	Rare genetic bone disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183524	"" []	3000169	\N	\N	EFO	5	EFO	material property	Rare genetic bone disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183524	"" []	4133422	\N	\N	EFO	6	EFO	experimental factor	Rare genetic bone disease
Orphanet:183527	\N	\N	"" []	Orphanet:183527	"" []	74182	\N	\N	EFO	0	EFO	Genetic bone tumor	Genetic bone tumor
EFO:0003820	Orphanet:183527	\N	"Tumors or cancer located in bone tissue or specific BONES." []	Orphanet:183527	"" []	215927	\N	\N	EFO	1	EFO	bone neoplasm	Genetic bone tumor
EFO:0004260	Orphanet:183527	\N	"Diseases of BONES." []	Orphanet:183527	"" []	215928	\N	\N	EFO	1	EFO	bone disease	Genetic bone tumor
Orphanet:68336	Orphanet:183527	\N	"" []	Orphanet:183527	"" []	215929	\N	\N	EFO	1	EFO	Rare genetic tumor	Genetic bone tumor
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:183527	"" []	570216	\N	\N	EFO	2	EFO	neoplasm	Genetic bone tumor
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:183527	"" []	570217	\N	\N	EFO	2	EFO	skeletal system disease	Genetic bone tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183527	"" []	570218	\N	\N	EFO	2	EFO	genetic disorder	Genetic bone tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:183527	"" []	570219	\N	\N	EFO	2	EFO	neoplasm	Genetic bone tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183527	"" []	1152173	\N	\N	EFO	3	EFO	disease	Genetic bone tumor
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183527	"" []	1152174	\N	\N	EFO	3	EFO	disease	Genetic bone tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183527	"" []	1152175	\N	\N	EFO	3	EFO	disease	Genetic bone tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183527	"" []	2034641	\N	\N	EFO	4	EFO	disposition	Genetic bone tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183527	"" []	3185124	\N	\N	EFO	5	EFO	material property	Genetic bone tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183527	"" []	4392717	\N	\N	EFO	6	EFO	experimental factor	Genetic bone tumor
Orphanet:183530	\N	\N	"" []	Orphanet:183530	"" []	74183	\N	\N	EFO	0	EFO	Rare genetic developmental defect during embryogenesis	Rare genetic developmental defect during embryogenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183530	"" []	215930	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic developmental defect during embryogenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183530	"" []	570220	\N	\N	EFO	2	EFO	disease	Rare genetic developmental defect during embryogenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183530	"" []	1152176	\N	\N	EFO	3	EFO	disposition	Rare genetic developmental defect during embryogenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183530	"" []	2034642	\N	\N	EFO	4	EFO	material property	Rare genetic developmental defect during embryogenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183530	"" []	3185125	\N	\N	EFO	5	EFO	experimental factor	Rare genetic developmental defect during embryogenesis
Orphanet:183533	\N	\N	"" []	Orphanet:183533	"" []	74184	\N	\N	EFO	0	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Genetic multiple congenital anomalies/dysmorphic syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:183533	"" []	215931	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic multiple congenital anomalies/dysmorphic syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183533	"" []	570221	\N	\N	EFO	2	EFO	genetic disorder	Genetic multiple congenital anomalies/dysmorphic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183533	"" []	1152177	\N	\N	EFO	3	EFO	disease	Genetic multiple congenital anomalies/dysmorphic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183533	"" []	2034643	\N	\N	EFO	4	EFO	disposition	Genetic multiple congenital anomalies/dysmorphic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183533	"" []	3185126	\N	\N	EFO	5	EFO	material property	Genetic multiple congenital anomalies/dysmorphic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183533	"" []	4392718	\N	\N	EFO	6	EFO	experimental factor	Genetic multiple congenital anomalies/dysmorphic syndrome
Orphanet:183536	\N	\N	"" []	Orphanet:183536	"" []	74185	\N	\N	EFO	0	EFO	Genetic congenital limb malformation	Genetic congenital limb malformation
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:183536	"" []	215932	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic congenital limb malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183536	"" []	570222	\N	\N	EFO	2	EFO	genetic disorder	Genetic congenital limb malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183536	"" []	1152178	\N	\N	EFO	3	EFO	disease	Genetic congenital limb malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183536	"" []	2034644	\N	\N	EFO	4	EFO	disposition	Genetic congenital limb malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183536	"" []	3185127	\N	\N	EFO	5	EFO	material property	Genetic congenital limb malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183536	"" []	4392719	\N	\N	EFO	6	EFO	experimental factor	Genetic congenital limb malformation
Orphanet:183539	\N	\N	"" []	Orphanet:183539	"" []	74186	\N	\N	EFO	0	EFO	Genetic renal or urinary tract malformation	Genetic renal or urinary tract malformation
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:183539	"" []	215933	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic renal or urinary tract malformation
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:183539	"" []	215934	\N	\N	EFO	1	EFO	Rare genetic renal disease	Genetic renal or urinary tract malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183539	"" []	570223	\N	\N	EFO	2	EFO	genetic disorder	Genetic renal or urinary tract malformation
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183539	"" []	570224	\N	\N	EFO	2	EFO	genetic disorder	Genetic renal or urinary tract malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183539	"" []	1152179	\N	\N	EFO	3	EFO	disease	Genetic renal or urinary tract malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183539	"" []	2034645	\N	\N	EFO	4	EFO	disposition	Genetic renal or urinary tract malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183539	"" []	3185128	\N	\N	EFO	5	EFO	material property	Genetic renal or urinary tract malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183539	"" []	4392720	\N	\N	EFO	6	EFO	experimental factor	Genetic renal or urinary tract malformation
Orphanet:183542	\N	\N	"" []	Orphanet:183542	"" []	74187	\N	\N	EFO	0	EFO	Genetic cranial malformation	Genetic cranial malformation
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:183542	"" []	215935	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic cranial malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183542	"" []	570225	\N	\N	EFO	2	EFO	genetic disorder	Genetic cranial malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183542	"" []	1152180	\N	\N	EFO	3	EFO	disease	Genetic cranial malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183542	"" []	2034646	\N	\N	EFO	4	EFO	disposition	Genetic cranial malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183542	"" []	3185129	\N	\N	EFO	5	EFO	material property	Genetic cranial malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183542	"" []	4392721	\N	\N	EFO	6	EFO	experimental factor	Genetic cranial malformation
Orphanet:183545	\N	\N	"" []	Orphanet:183545	"" []	74188	\N	\N	EFO	0	EFO	Genetic digestive tract malformation	Genetic digestive tract malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:183545	"" []	215936	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic digestive tract malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183545	"" []	570226	\N	\N	EFO	2	EFO	genetic disorder	Genetic digestive tract malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183545	"" []	1152181	\N	\N	EFO	3	EFO	disease	Genetic digestive tract malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183545	"" []	2034647	\N	\N	EFO	4	EFO	disposition	Genetic digestive tract malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183545	"" []	3185130	\N	\N	EFO	5	EFO	material property	Genetic digestive tract malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183545	"" []	4392722	\N	\N	EFO	6	EFO	experimental factor	Genetic digestive tract malformation
Orphanet:183548	\N	\N	"" []	Orphanet:183548	"" []	74189	\N	\N	EFO	0	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:183548	"" []	215937	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183548	"" []	570227	\N	\N	EFO	2	EFO	genetic disorder	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183548	"" []	1152182	\N	\N	EFO	3	EFO	disease	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183548	"" []	2034648	\N	\N	EFO	4	EFO	disposition	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183548	"" []	3185131	\N	\N	EFO	5	EFO	material property	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183548	"" []	4392723	\N	\N	EFO	6	EFO	experimental factor	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
Orphanet:183554	\N	\N	"" []	Orphanet:183554	"" []	74190	\N	\N	EFO	0	EFO	Genetic respiratory or mediastinal malformation	Genetic respiratory or mediastinal malformation
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:183554	"" []	215938	\N	\N	EFO	1	EFO	respiratory system disease	Genetic respiratory or mediastinal malformation
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:183554	"" []	215939	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic respiratory or mediastinal malformation
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183554	"" []	570228	\N	\N	EFO	2	EFO	disease	Genetic respiratory or mediastinal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183554	"" []	570229	\N	\N	EFO	2	EFO	genetic disorder	Genetic respiratory or mediastinal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183554	"" []	2034650	\N	\N	EFO	4	EFO	disposition	Genetic respiratory or mediastinal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183554	"" []	1152184	\N	\N	EFO	3	EFO	disease	Genetic respiratory or mediastinal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183554	"" []	3000170	\N	\N	EFO	5	EFO	material property	Genetic respiratory or mediastinal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183554	"" []	4133423	\N	\N	EFO	6	EFO	experimental factor	Genetic respiratory or mediastinal malformation
Orphanet:183557	\N	\N	"" []	Orphanet:183557	"" []	74191	\N	\N	EFO	0	EFO	Genetic developmental defect of the eye	Genetic developmental defect of the eye
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:183557	"" []	215940	\N	\N	EFO	1	EFO	Rare genetic eye disease	Genetic developmental defect of the eye
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:183557	"" []	215941	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic developmental defect of the eye
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183557	"" []	570230	\N	\N	EFO	2	EFO	genetic disorder	Genetic developmental defect of the eye
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:183557	"" []	570231	\N	\N	EFO	2	EFO	eye disease	Genetic developmental defect of the eye
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183557	"" []	570232	\N	\N	EFO	2	EFO	genetic disorder	Genetic developmental defect of the eye
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183557	"" []	1152185	\N	\N	EFO	3	EFO	disease	Genetic developmental defect of the eye
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183557	"" []	1152186	\N	\N	EFO	3	EFO	disease	Genetic developmental defect of the eye
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183557	"" []	2034651	\N	\N	EFO	4	EFO	disposition	Genetic developmental defect of the eye
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183557	"" []	3185133	\N	\N	EFO	5	EFO	material property	Genetic developmental defect of the eye
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183557	"" []	4392724	\N	\N	EFO	6	EFO	experimental factor	Genetic developmental defect of the eye
Orphanet:183570	\N	\N	"" []	Orphanet:183570	"" []	74192	\N	\N	EFO	0	EFO	Genetic malformation syndrome with short stature	Genetic malformation syndrome with short stature
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:183570	"" []	215942	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic malformation syndrome with short stature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183570	"" []	570233	\N	\N	EFO	2	EFO	genetic disorder	Genetic malformation syndrome with short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183570	"" []	1152187	\N	\N	EFO	3	EFO	disease	Genetic malformation syndrome with short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183570	"" []	2034652	\N	\N	EFO	4	EFO	disposition	Genetic malformation syndrome with short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183570	"" []	3185134	\N	\N	EFO	5	EFO	material property	Genetic malformation syndrome with short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183570	"" []	4392725	\N	\N	EFO	6	EFO	experimental factor	Genetic malformation syndrome with short stature
Orphanet:183573	\N	\N	"" []	Orphanet:183573	"" []	74193	\N	\N	EFO	0	EFO	Genetic overgrowth/obesity syndrome	Genetic overgrowth/obesity syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:183573	"" []	215943	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic overgrowth/obesity syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183573	"" []	570234	\N	\N	EFO	2	EFO	genetic disorder	Genetic overgrowth/obesity syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183573	"" []	1152188	\N	\N	EFO	3	EFO	disease	Genetic overgrowth/obesity syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183573	"" []	2034653	\N	\N	EFO	4	EFO	disposition	Genetic overgrowth/obesity syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183573	"" []	3185135	\N	\N	EFO	5	EFO	material property	Genetic overgrowth/obesity syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183573	"" []	4392726	\N	\N	EFO	6	EFO	experimental factor	Genetic overgrowth/obesity syndrome
Orphanet:183576	\N	\N	"" []	Orphanet:183576	"" []	74194	\N	\N	EFO	0	EFO	Genetic branchial arch or oral-acral syndrome	Genetic branchial arch or oral-acral syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:183576	"" []	215944	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic branchial arch or oral-acral syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183576	"" []	570235	\N	\N	EFO	2	EFO	genetic disorder	Genetic branchial arch or oral-acral syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183576	"" []	1152189	\N	\N	EFO	3	EFO	disease	Genetic branchial arch or oral-acral syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183576	"" []	2034654	\N	\N	EFO	4	EFO	disposition	Genetic branchial arch or oral-acral syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183576	"" []	3185136	\N	\N	EFO	5	EFO	material property	Genetic branchial arch or oral-acral syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183576	"" []	4392727	\N	\N	EFO	6	EFO	experimental factor	Genetic branchial arch or oral-acral syndrome
Orphanet:183580	\N	\N	"" []	Orphanet:183580	"" []	74195	\N	\N	EFO	0	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Genetic malformation syndrome with odontal and/or periodontal component
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:183580	"" []	215945	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic malformation syndrome with odontal and/or periodontal component
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183580	"" []	570236	\N	\N	EFO	2	EFO	genetic disorder	Genetic malformation syndrome with odontal and/or periodontal component
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183580	"" []	1152190	\N	\N	EFO	3	EFO	disease	Genetic malformation syndrome with odontal and/or periodontal component
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183580	"" []	2034655	\N	\N	EFO	4	EFO	disposition	Genetic malformation syndrome with odontal and/or periodontal component
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183580	"" []	3185137	\N	\N	EFO	5	EFO	material property	Genetic malformation syndrome with odontal and/or periodontal component
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183580	"" []	4392728	\N	\N	EFO	6	EFO	experimental factor	Genetic malformation syndrome with odontal and/or periodontal component
Orphanet:183583	\N	\N	"" []	Orphanet:183583	"" []	74196	\N	\N	EFO	0	EFO	Genetic head and neck malformation	Genetic head and neck malformation
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:183583	"" []	215946	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic head and neck malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183583	"" []	570237	\N	\N	EFO	2	EFO	genetic disorder	Genetic head and neck malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183583	"" []	1152191	\N	\N	EFO	3	EFO	disease	Genetic head and neck malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183583	"" []	2034656	\N	\N	EFO	4	EFO	disposition	Genetic head and neck malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183583	"" []	3185138	\N	\N	EFO	5	EFO	material property	Genetic head and neck malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183583	"" []	4392729	\N	\N	EFO	6	EFO	experimental factor	Genetic head and neck malformation
Orphanet:183586	\N	\N	"" []	Orphanet:183586	"" []	74197	\N	\N	EFO	0	EFO	Genetic glomerular disease	Genetic glomerular disease
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:183586	"" []	215947	\N	\N	EFO	1	EFO	Rare genetic renal disease	Genetic glomerular disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183586	"" []	570238	\N	\N	EFO	2	EFO	genetic disorder	Genetic glomerular disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183586	"" []	1152192	\N	\N	EFO	3	EFO	disease	Genetic glomerular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183586	"" []	2034657	\N	\N	EFO	4	EFO	disposition	Genetic glomerular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183586	"" []	3185139	\N	\N	EFO	5	EFO	material property	Genetic glomerular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183586	"" []	4392730	\N	\N	EFO	6	EFO	experimental factor	Genetic glomerular disease
Orphanet:183589	\N	\N	"" []	Orphanet:183589	"" []	74198	\N	\N	EFO	0	EFO	Genetic thrombotic microangiopathy	Genetic thrombotic microangiopathy
Orphanet:98056	Orphanet:183589	\N	"" []	Orphanet:183589	"" []	215948	\N	\N	EFO	1	EFO	Rare genetic renal disease	Genetic thrombotic microangiopathy
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183589	"" []	570239	\N	\N	EFO	2	EFO	genetic disorder	Genetic thrombotic microangiopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183589	"" []	1152193	\N	\N	EFO	3	EFO	disease	Genetic thrombotic microangiopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183589	"" []	2034658	\N	\N	EFO	4	EFO	disposition	Genetic thrombotic microangiopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183589	"" []	3185140	\N	\N	EFO	5	EFO	material property	Genetic thrombotic microangiopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183589	"" []	4392731	\N	\N	EFO	6	EFO	experimental factor	Genetic thrombotic microangiopathy
Orphanet:183592	\N	\N	"" []	Orphanet:183592	"" []	74199	\N	\N	EFO	0	EFO	Genetic renal tubular disease	Genetic renal tubular disease
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:183592	"" []	215949	\N	\N	EFO	1	EFO	Rare genetic renal disease	Genetic renal tubular disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183592	"" []	570240	\N	\N	EFO	2	EFO	genetic disorder	Genetic renal tubular disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183592	"" []	1152194	\N	\N	EFO	3	EFO	disease	Genetic renal tubular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183592	"" []	2034659	\N	\N	EFO	4	EFO	disposition	Genetic renal tubular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183592	"" []	3185141	\N	\N	EFO	5	EFO	material property	Genetic renal tubular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183592	"" []	4392732	\N	\N	EFO	6	EFO	experimental factor	Genetic renal tubular disease
Orphanet:183595	\N	\N	"" []	Orphanet:183595	"" []	74200	\N	\N	EFO	0	EFO	Genetic renal tumor	Genetic renal tumor
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:183595	"" []	215950	\N	\N	EFO	1	EFO	urogenital neoplasm	Genetic renal tumor
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:183595	"" []	215951	\N	\N	EFO	1	EFO	Rare genetic tumor	Genetic renal tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:183595	"" []	570241	\N	\N	EFO	2	EFO	neoplasm	Genetic renal tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183595	"" []	570242	\N	\N	EFO	2	EFO	genetic disorder	Genetic renal tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:183595	"" []	570243	\N	\N	EFO	2	EFO	neoplasm	Genetic renal tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183595	"" []	1152195	\N	\N	EFO	3	EFO	disease	Genetic renal tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183595	"" []	1152196	\N	\N	EFO	3	EFO	disease	Genetic renal tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183595	"" []	2034660	\N	\N	EFO	4	EFO	disposition	Genetic renal tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183595	"" []	3185142	\N	\N	EFO	5	EFO	material property	Genetic renal tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183595	"" []	4392733	\N	\N	EFO	6	EFO	experimental factor	Genetic renal tumor
Orphanet:183598	\N	\N	"" []	Orphanet:183598	"" []	74201	\N	\N	EFO	0	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Rare genetic palpebral, lacrimal system and conjunctival disease
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:183598	"" []	215952	\N	\N	EFO	1	EFO	Rare genetic eye disease	Rare genetic palpebral, lacrimal system and conjunctival disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183598	"" []	570244	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic palpebral, lacrimal system and conjunctival disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:183598	"" []	570245	\N	\N	EFO	2	EFO	eye disease	Rare genetic palpebral, lacrimal system and conjunctival disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183598	"" []	1152197	\N	\N	EFO	3	EFO	disease	Rare genetic palpebral, lacrimal system and conjunctival disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183598	"" []	1152198	\N	\N	EFO	3	EFO	disease	Rare genetic palpebral, lacrimal system and conjunctival disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183598	"" []	2034661	\N	\N	EFO	4	EFO	disposition	Rare genetic palpebral, lacrimal system and conjunctival disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183598	"" []	3185143	\N	\N	EFO	5	EFO	material property	Rare genetic palpebral, lacrimal system and conjunctival disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183598	"" []	4392734	\N	\N	EFO	6	EFO	experimental factor	Rare genetic palpebral, lacrimal system and conjunctival disease
Orphanet:1836	\N	\N	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	74202	\N	\N	EFO	0	EFO	Mesomelic dysplasia, Kantaputra type	Mesomelic dysplasia, Kantaputra type
Orphanet:93438	Orphanet:1836	\N	"" []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	215953	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Mesomelic dysplasia, Kantaputra type
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	570246	\N	\N	EFO	2	EFO	Primary bone dysplasia	Mesomelic dysplasia, Kantaputra type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	1152199	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mesomelic dysplasia, Kantaputra type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	1152200	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Mesomelic dysplasia, Kantaputra type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	2034662	\N	\N	EFO	4	EFO	genetic disorder	Mesomelic dysplasia, Kantaputra type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	2034663	\N	\N	EFO	4	EFO	bone disease	Mesomelic dysplasia, Kantaputra type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	2034664	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mesomelic dysplasia, Kantaputra type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	4392737	\N	\N	EFO	6	EFO	disease	Mesomelic dysplasia, Kantaputra type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	3185145	\N	\N	EFO	5	EFO	skeletal system disease	Mesomelic dysplasia, Kantaputra type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	3185146	\N	\N	EFO	5	EFO	genetic disorder	Mesomelic dysplasia, Kantaputra type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	5181815	\N	\N	EFO	7	EFO	disposition	Mesomelic dysplasia, Kantaputra type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	4392736	\N	\N	EFO	6	EFO	disease	Mesomelic dysplasia, Kantaputra type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	5997196	\N	\N	EFO	8	EFO	material property	Mesomelic dysplasia, Kantaputra type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1836	"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." []	6550702	\N	\N	EFO	9	EFO	experimental factor	Mesomelic dysplasia, Kantaputra type
Orphanet:183601	\N	\N	"" []	Orphanet:183601	"" []	74203	\N	\N	EFO	0	EFO	Rare genetic refraction anomaly	Rare genetic refraction anomaly
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:183601	"" []	215954	\N	\N	EFO	1	EFO	Rare genetic eye disease	Rare genetic refraction anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183601	"" []	570247	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic refraction anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:183601	"" []	570248	\N	\N	EFO	2	EFO	eye disease	Rare genetic refraction anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183601	"" []	1152201	\N	\N	EFO	3	EFO	disease	Rare genetic refraction anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183601	"" []	1152202	\N	\N	EFO	3	EFO	disease	Rare genetic refraction anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183601	"" []	2034665	\N	\N	EFO	4	EFO	disposition	Rare genetic refraction anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183601	"" []	3185147	\N	\N	EFO	5	EFO	material property	Rare genetic refraction anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183601	"" []	4392738	\N	\N	EFO	6	EFO	experimental factor	Rare genetic refraction anomaly
Orphanet:183607	\N	\N	"" []	Orphanet:183607	"" []	74204	\N	\N	EFO	0	EFO	Genetic lens and zonula anomaly	Genetic lens and zonula anomaly
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:183607	"" []	215955	\N	\N	EFO	1	EFO	Rare genetic eye disease	Genetic lens and zonula anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183607	"" []	570249	\N	\N	EFO	2	EFO	genetic disorder	Genetic lens and zonula anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:183607	"" []	570250	\N	\N	EFO	2	EFO	eye disease	Genetic lens and zonula anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183607	"" []	1152203	\N	\N	EFO	3	EFO	disease	Genetic lens and zonula anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183607	"" []	1152204	\N	\N	EFO	3	EFO	disease	Genetic lens and zonula anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183607	"" []	2034666	\N	\N	EFO	4	EFO	disposition	Genetic lens and zonula anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183607	"" []	3185148	\N	\N	EFO	5	EFO	material property	Genetic lens and zonula anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183607	"" []	4392739	\N	\N	EFO	6	EFO	experimental factor	Genetic lens and zonula anomaly
Orphanet:183616	\N	\N	"" []	Orphanet:183616	"" []	74205	\N	\N	EFO	0	EFO	Genetic neuro-ophthalmological disease	Genetic neuro-ophthalmological disease
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:183616	"" []	215956	\N	\N	EFO	1	EFO	Rare genetic eye disease	Genetic neuro-ophthalmological disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183616	"" []	570251	\N	\N	EFO	2	EFO	genetic disorder	Genetic neuro-ophthalmological disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:183616	"" []	570252	\N	\N	EFO	2	EFO	eye disease	Genetic neuro-ophthalmological disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183616	"" []	1152205	\N	\N	EFO	3	EFO	disease	Genetic neuro-ophthalmological disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183616	"" []	1152206	\N	\N	EFO	3	EFO	disease	Genetic neuro-ophthalmological disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183616	"" []	2034667	\N	\N	EFO	4	EFO	disposition	Genetic neuro-ophthalmological disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183616	"" []	3185149	\N	\N	EFO	5	EFO	material property	Genetic neuro-ophthalmological disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183616	"" []	4392740	\N	\N	EFO	6	EFO	experimental factor	Genetic neuro-ophthalmological disease
Orphanet:183619	\N	\N	"" []	Orphanet:183619	"" []	74206	\N	\N	EFO	0	EFO	Genetic eye tumor	Genetic eye tumor
EFO:0003966	Orphanet:183619	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:183619	"" []	215957	\N	\N	EFO	1	EFO	eye disease	Genetic eye tumor
Orphanet:68336	Orphanet:183619	\N	"" []	Orphanet:183619	"" []	215958	\N	\N	EFO	1	EFO	Rare genetic tumor	Genetic eye tumor
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183619	"" []	570253	\N	\N	EFO	2	EFO	disease	Genetic eye tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183619	"" []	570254	\N	\N	EFO	2	EFO	genetic disorder	Genetic eye tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:183619	"" []	570255	\N	\N	EFO	2	EFO	neoplasm	Genetic eye tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183619	"" []	2034669	\N	\N	EFO	4	EFO	disposition	Genetic eye tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183619	"" []	1152208	\N	\N	EFO	3	EFO	disease	Genetic eye tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183619	"" []	1152209	\N	\N	EFO	3	EFO	disease	Genetic eye tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183619	"" []	3000171	\N	\N	EFO	5	EFO	material property	Genetic eye tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183619	"" []	4133424	\N	\N	EFO	6	EFO	experimental factor	Genetic eye tumor
Orphanet:183622	\N	\N	"" []	Orphanet:183622	"" []	74207	\N	\N	EFO	0	EFO	Genetic respiratory malformation	Genetic respiratory malformation
Orphanet:156610	Orphanet:183622	\N	"" []	Orphanet:183622	"" []	215959	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Genetic respiratory malformation
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183622	"" []	570256	\N	\N	EFO	2	EFO	genetic disorder	Genetic respiratory malformation
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:183622	"" []	570257	\N	\N	EFO	2	EFO	respiratory system disease	Genetic respiratory malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183622	"" []	1152210	\N	\N	EFO	3	EFO	disease	Genetic respiratory malformation
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183622	"" []	1152211	\N	\N	EFO	3	EFO	disease	Genetic respiratory malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183622	"" []	2034670	\N	\N	EFO	4	EFO	disposition	Genetic respiratory malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183622	"" []	3185151	\N	\N	EFO	5	EFO	material property	Genetic respiratory malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183622	"" []	4392741	\N	\N	EFO	6	EFO	experimental factor	Genetic respiratory malformation
Orphanet:183625	\N	\N	"" []	Orphanet:183625	"" []	74208	\N	\N	EFO	0	EFO	Rare genetic diabetes mellitus	Rare genetic diabetes mellitus
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:183625	"" []	215960	\N	\N	EFO	1	EFO	diabetes mellitus	Rare genetic diabetes mellitus
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:183625	"" []	215961	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Rare genetic diabetes mellitus
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:183625	"" []	570258	\N	\N	EFO	2	EFO	metabolic disease	Rare genetic diabetes mellitus
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183625	"" []	570259	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic diabetes mellitus
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:183625	"" []	570260	\N	\N	EFO	2	EFO	endocrine system disease	Rare genetic diabetes mellitus
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183625	"" []	1152212	\N	\N	EFO	3	EFO	disease	Rare genetic diabetes mellitus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183625	"" []	1152213	\N	\N	EFO	3	EFO	disease	Rare genetic diabetes mellitus
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183625	"" []	1152214	\N	\N	EFO	3	EFO	disease	Rare genetic diabetes mellitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183625	"" []	2034671	\N	\N	EFO	4	EFO	disposition	Rare genetic diabetes mellitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183625	"" []	3185152	\N	\N	EFO	5	EFO	material property	Rare genetic diabetes mellitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183625	"" []	4392742	\N	\N	EFO	6	EFO	experimental factor	Rare genetic diabetes mellitus
Orphanet:183628	\N	\N	"" []	Orphanet:183628	"" []	74209	\N	\N	EFO	0	EFO	Rare genetic hypothalamic or pituitary disease	Rare genetic hypothalamic or pituitary disease
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:183628	"" []	215962	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Rare genetic hypothalamic or pituitary disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183628	"" []	570261	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic hypothalamic or pituitary disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:183628	"" []	570262	\N	\N	EFO	2	EFO	endocrine system disease	Rare genetic hypothalamic or pituitary disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183628	"" []	1152215	\N	\N	EFO	3	EFO	disease	Rare genetic hypothalamic or pituitary disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183628	"" []	1152216	\N	\N	EFO	3	EFO	disease	Rare genetic hypothalamic or pituitary disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183628	"" []	2034672	\N	\N	EFO	4	EFO	disposition	Rare genetic hypothalamic or pituitary disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183628	"" []	3185153	\N	\N	EFO	5	EFO	material property	Rare genetic hypothalamic or pituitary disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183628	"" []	4392743	\N	\N	EFO	6	EFO	experimental factor	Rare genetic hypothalamic or pituitary disease
Orphanet:183631	\N	\N	"" []	Orphanet:183631	"" []	74210	\N	\N	EFO	0	EFO	Rare genetic thyroid disease	Rare genetic thyroid disease
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:183631	"" []	215963	\N	\N	EFO	1	EFO	thyroid disease	Rare genetic thyroid disease
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:183631	"" []	215964	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Rare genetic thyroid disease
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:183631	"" []	570263	\N	\N	EFO	2	EFO	endocrine system disease	Rare genetic thyroid disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183631	"" []	570264	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic thyroid disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:183631	"" []	570265	\N	\N	EFO	2	EFO	endocrine system disease	Rare genetic thyroid disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183631	"" []	1152217	\N	\N	EFO	3	EFO	disease	Rare genetic thyroid disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183631	"" []	1152218	\N	\N	EFO	3	EFO	disease	Rare genetic thyroid disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183631	"" []	2034673	\N	\N	EFO	4	EFO	disposition	Rare genetic thyroid disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183631	"" []	3185154	\N	\N	EFO	5	EFO	material property	Rare genetic thyroid disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183631	"" []	4392744	\N	\N	EFO	6	EFO	experimental factor	Rare genetic thyroid disease
Orphanet:183634	\N	\N	"" []	Orphanet:183634	"" []	74211	\N	\N	EFO	0	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Rare genetic parathyroid disease and phosphocalcic metabolism disorder
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:183634	"" []	215965	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Rare genetic parathyroid disease and phosphocalcic metabolism disorder
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183634	"" []	570266	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic parathyroid disease and phosphocalcic metabolism disorder
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:183634	"" []	570267	\N	\N	EFO	2	EFO	endocrine system disease	Rare genetic parathyroid disease and phosphocalcic metabolism disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183634	"" []	1152219	\N	\N	EFO	3	EFO	disease	Rare genetic parathyroid disease and phosphocalcic metabolism disorder
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183634	"" []	1152220	\N	\N	EFO	3	EFO	disease	Rare genetic parathyroid disease and phosphocalcic metabolism disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183634	"" []	2034674	\N	\N	EFO	4	EFO	disposition	Rare genetic parathyroid disease and phosphocalcic metabolism disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183634	"" []	3185155	\N	\N	EFO	5	EFO	material property	Rare genetic parathyroid disease and phosphocalcic metabolism disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183634	"" []	4392745	\N	\N	EFO	6	EFO	experimental factor	Rare genetic parathyroid disease and phosphocalcic metabolism disorder
Orphanet:183637	\N	\N	"" []	Orphanet:183637	"" []	74212	\N	\N	EFO	0	EFO	Rare genetic adrenal disease	Rare genetic adrenal disease
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:183637	"" []	215966	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Rare genetic adrenal disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183637	"" []	570268	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic adrenal disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:183637	"" []	570269	\N	\N	EFO	2	EFO	endocrine system disease	Rare genetic adrenal disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183637	"" []	1152221	\N	\N	EFO	3	EFO	disease	Rare genetic adrenal disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183637	"" []	1152222	\N	\N	EFO	3	EFO	disease	Rare genetic adrenal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183637	"" []	2034675	\N	\N	EFO	4	EFO	disposition	Rare genetic adrenal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183637	"" []	3185156	\N	\N	EFO	5	EFO	material property	Rare genetic adrenal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183637	"" []	4392746	\N	\N	EFO	6	EFO	experimental factor	Rare genetic adrenal disease
Orphanet:183643	\N	\N	"" []	Orphanet:183643	"" []	74213	\N	\N	EFO	0	EFO	Genetic polyendocrinopathy	Genetic polyendocrinopathy
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:183643	"" []	215967	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Genetic polyendocrinopathy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183643	"" []	570270	\N	\N	EFO	2	EFO	genetic disorder	Genetic polyendocrinopathy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:183643	"" []	570271	\N	\N	EFO	2	EFO	endocrine system disease	Genetic polyendocrinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183643	"" []	1152223	\N	\N	EFO	3	EFO	disease	Genetic polyendocrinopathy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183643	"" []	1152224	\N	\N	EFO	3	EFO	disease	Genetic polyendocrinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183643	"" []	2034676	\N	\N	EFO	4	EFO	disposition	Genetic polyendocrinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183643	"" []	3185157	\N	\N	EFO	5	EFO	material property	Genetic polyendocrinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183643	"" []	4392747	\N	\N	EFO	6	EFO	experimental factor	Genetic polyendocrinopathy
Orphanet:183651	\N	\N	"" []	Orphanet:183651	"" []	74214	\N	\N	EFO	0	EFO	Rare constitutional anemia	Rare constitutional anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:183651	"" []	215968	\N	\N	EFO	1	EFO	Rare genetic hematologic disease	Rare constitutional anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183651	"" []	570272	\N	\N	EFO	2	EFO	genetic disorder	Rare constitutional anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:183651	"" []	570273	\N	\N	EFO	2	EFO	hematological system disease	Rare constitutional anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183651	"" []	1152225	\N	\N	EFO	3	EFO	disease	Rare constitutional anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183651	"" []	1152226	\N	\N	EFO	3	EFO	disease	Rare constitutional anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183651	"" []	2034677	\N	\N	EFO	4	EFO	disposition	Rare constitutional anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183651	"" []	3185158	\N	\N	EFO	5	EFO	material property	Rare constitutional anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183651	"" []	4392748	\N	\N	EFO	6	EFO	experimental factor	Rare constitutional anemia
Orphanet:183654	\N	\N	"" []	Orphanet:183654	"" []	74215	\N	\N	EFO	0	EFO	Rare genetic coagulation disorder	Rare genetic coagulation disorder
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:183654	"" []	215969	\N	\N	EFO	1	EFO	Rare genetic hematologic disease	Rare genetic coagulation disorder
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183654	"" []	570274	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic coagulation disorder
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:183654	"" []	570275	\N	\N	EFO	2	EFO	hematological system disease	Rare genetic coagulation disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183654	"" []	1152227	\N	\N	EFO	3	EFO	disease	Rare genetic coagulation disorder
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183654	"" []	1152228	\N	\N	EFO	3	EFO	disease	Rare genetic coagulation disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183654	"" []	2034678	\N	\N	EFO	4	EFO	disposition	Rare genetic coagulation disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183654	"" []	3185159	\N	\N	EFO	5	EFO	material property	Rare genetic coagulation disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183654	"" []	4392749	\N	\N	EFO	6	EFO	experimental factor	Rare genetic coagulation disorder
Orphanet:183660	\N	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:183660	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	74216	\N	\N	EFO	0	EFO	Severe combined immunodeficiency	Severe combined immunodeficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:183660	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	215970	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Severe combined immunodeficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:183660	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	570276	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Severe combined immunodeficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:183660	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	1152229	\N	\N	EFO	3	EFO	Primary immunodeficiency	Severe combined immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:183660	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	2034679	\N	\N	EFO	4	EFO	Rare genetic immune disease	Severe combined immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183660	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	3185160	\N	\N	EFO	5	EFO	genetic disorder	Severe combined immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:183660	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	3185161	\N	\N	EFO	5	EFO	immune system disease	Severe combined immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183660	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	4392750	\N	\N	EFO	6	EFO	disease	Severe combined immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183660	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	4392751	\N	\N	EFO	6	EFO	disease	Severe combined immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183660	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	5411412	\N	\N	EFO	7	EFO	disposition	Severe combined immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183660	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	6148728	\N	\N	EFO	8	EFO	material property	Severe combined immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183660	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	6632357	\N	\N	EFO	9	EFO	experimental factor	Severe combined immunodeficiency
Orphanet:183663	\N	\N	"" []	Orphanet:183663	"" []	74217	\N	\N	EFO	0	EFO	Hyper-IgM syndrome with susceptibility to opportunistic infections	Hyper-IgM syndrome with susceptibility to opportunistic infections
Orphanet:101972	Orphanet:183663	\N	"" []	Orphanet:183663	"" []	215971	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Hyper-IgM syndrome with susceptibility to opportunistic infections
Orphanet:331240	Orphanet:183663	\N	"" []	Orphanet:183663	"" []	215972	\N	\N	EFO	1	EFO	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	Hyper-IgM syndrome with susceptibility to opportunistic infections
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:183663	"" []	570277	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Hyper-IgM syndrome with susceptibility to opportunistic infections
Orphanet:101977	Orphanet:331240	\N	"" []	Orphanet:183663	"" []	570278	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Hyper-IgM syndrome with susceptibility to opportunistic infections
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:183663	"" []	2034681	\N	\N	EFO	4	EFO	Primary immunodeficiency	Hyper-IgM syndrome with susceptibility to opportunistic infections
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:183663	"" []	1152231	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Hyper-IgM syndrome with susceptibility to opportunistic infections
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:183663	"" []	3000172	\N	\N	EFO	5	EFO	Rare genetic immune disease	Hyper-IgM syndrome with susceptibility to opportunistic infections
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183663	"" []	4133425	\N	\N	EFO	6	EFO	genetic disorder	Hyper-IgM syndrome with susceptibility to opportunistic infections
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:183663	"" []	4133426	\N	\N	EFO	6	EFO	immune system disease	Hyper-IgM syndrome with susceptibility to opportunistic infections
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183663	"" []	5181816	\N	\N	EFO	7	EFO	disease	Hyper-IgM syndrome with susceptibility to opportunistic infections
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183663	"" []	5181817	\N	\N	EFO	7	EFO	disease	Hyper-IgM syndrome with susceptibility to opportunistic infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183663	"" []	5997197	\N	\N	EFO	8	EFO	disposition	Hyper-IgM syndrome with susceptibility to opportunistic infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183663	"" []	6550703	\N	\N	EFO	9	EFO	material property	Hyper-IgM syndrome with susceptibility to opportunistic infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183663	"" []	6889088	\N	\N	EFO	10	EFO	experimental factor	Hyper-IgM syndrome with susceptibility to opportunistic infections
Orphanet:183666	\N	\N	"" []	Orphanet:183666	"" []	74218	\N	\N	EFO	0	EFO	Hyper-IgM syndrome without susceptibility to opportunistic infections	Hyper-IgM syndrome without susceptibility to opportunistic infections
Orphanet:331240	Orphanet:183666	\N	"" []	Orphanet:183666	"" []	215973	\N	\N	EFO	1	EFO	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	Hyper-IgM syndrome without susceptibility to opportunistic infections
Orphanet:101977	Orphanet:331240	\N	"" []	Orphanet:183666	"" []	570279	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Hyper-IgM syndrome without susceptibility to opportunistic infections
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:183666	"" []	1152232	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Hyper-IgM syndrome without susceptibility to opportunistic infections
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:183666	"" []	2034682	\N	\N	EFO	4	EFO	Primary immunodeficiency	Hyper-IgM syndrome without susceptibility to opportunistic infections
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:183666	"" []	3185164	\N	\N	EFO	5	EFO	Rare genetic immune disease	Hyper-IgM syndrome without susceptibility to opportunistic infections
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183666	"" []	4392754	\N	\N	EFO	6	EFO	genetic disorder	Hyper-IgM syndrome without susceptibility to opportunistic infections
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:183666	"" []	4392755	\N	\N	EFO	6	EFO	immune system disease	Hyper-IgM syndrome without susceptibility to opportunistic infections
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183666	"" []	5411414	\N	\N	EFO	7	EFO	disease	Hyper-IgM syndrome without susceptibility to opportunistic infections
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183666	"" []	5411415	\N	\N	EFO	7	EFO	disease	Hyper-IgM syndrome without susceptibility to opportunistic infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183666	"" []	6148730	\N	\N	EFO	8	EFO	disposition	Hyper-IgM syndrome without susceptibility to opportunistic infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183666	"" []	6632359	\N	\N	EFO	9	EFO	material property	Hyper-IgM syndrome without susceptibility to opportunistic infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183666	"" []	6925501	\N	\N	EFO	10	EFO	experimental factor	Hyper-IgM syndrome without susceptibility to opportunistic infections
Orphanet:183669	\N	\N	"" []	Orphanet:183669	"" []	74219	\N	\N	EFO	0	EFO	Agammaglobulinemia	Agammaglobulinemia
Orphanet:101977	Orphanet:183669	\N	"" []	Orphanet:183669	"" []	215974	\N	\N	EFO	1	EFO	Immunodeficiency predominantly affecting antibody production	Agammaglobulinemia
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:183669	"" []	570280	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Agammaglobulinemia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:183669	"" []	1152233	\N	\N	EFO	3	EFO	Primary immunodeficiency	Agammaglobulinemia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:183669	"" []	2034683	\N	\N	EFO	4	EFO	Rare genetic immune disease	Agammaglobulinemia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183669	"" []	3185165	\N	\N	EFO	5	EFO	genetic disorder	Agammaglobulinemia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:183669	"" []	3185166	\N	\N	EFO	5	EFO	immune system disease	Agammaglobulinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183669	"" []	4392756	\N	\N	EFO	6	EFO	disease	Agammaglobulinemia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183669	"" []	4392757	\N	\N	EFO	6	EFO	disease	Agammaglobulinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183669	"" []	5411416	\N	\N	EFO	7	EFO	disposition	Agammaglobulinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183669	"" []	6148731	\N	\N	EFO	8	EFO	material property	Agammaglobulinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183669	"" []	6632360	\N	\N	EFO	9	EFO	experimental factor	Agammaglobulinemia
Orphanet:183675	\N	\N	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	74220	\N	\N	EFO	0	EFO	Recurrent infections associated with rare immunoglobulin isotypes deficiency	Recurrent infections associated with rare immunoglobulin isotypes deficiency
Orphanet:331232	Orphanet:183675	\N	"" []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	215975	\N	\N	EFO	1	EFO	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells	Recurrent infections associated with rare immunoglobulin isotypes deficiency
Orphanet:101977	Orphanet:331232	\N	"" []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	570281	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Recurrent infections associated with rare immunoglobulin isotypes deficiency
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	1152234	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Recurrent infections associated with rare immunoglobulin isotypes deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	2034684	\N	\N	EFO	4	EFO	Primary immunodeficiency	Recurrent infections associated with rare immunoglobulin isotypes deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	3185167	\N	\N	EFO	5	EFO	Rare genetic immune disease	Recurrent infections associated with rare immunoglobulin isotypes deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	4392758	\N	\N	EFO	6	EFO	genetic disorder	Recurrent infections associated with rare immunoglobulin isotypes deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	4392759	\N	\N	EFO	6	EFO	immune system disease	Recurrent infections associated with rare immunoglobulin isotypes deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	5411417	\N	\N	EFO	7	EFO	disease	Recurrent infections associated with rare immunoglobulin isotypes deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	5411418	\N	\N	EFO	7	EFO	disease	Recurrent infections associated with rare immunoglobulin isotypes deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	6148732	\N	\N	EFO	8	EFO	disposition	Recurrent infections associated with rare immunoglobulin isotypes deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	6632361	\N	\N	EFO	9	EFO	material property	Recurrent infections associated with rare immunoglobulin isotypes deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183675	"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." []	6925502	\N	\N	EFO	10	EFO	experimental factor	Recurrent infections associated with rare immunoglobulin isotypes deficiency
Orphanet:183678	\N	\N	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	74221	\N	\N	EFO	0	EFO	Hermansky-Pudlak syndrome with neutropenia	Hermansky-Pudlak syndrome with neutropenia
Orphanet:331184	Orphanet:183678	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	215976	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Hermansky-Pudlak syndrome with neutropenia
Orphanet:331249	Orphanet:183678	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	215977	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with hypopigmentation	Hermansky-Pudlak syndrome with neutropenia
Orphanet:79430	Orphanet:183678	\N	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	215978	\N	\N	EFO	1	EFO	Hermansky-Pudlak syndrome	Hermansky-Pudlak syndrome with neutropenia
Orphanet:98666	Orphanet:183678	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	215979	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Hermansky-Pudlak syndrome with neutropenia
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	570282	\N	\N	EFO	2	EFO	Constitutional neutropenia	Hermansky-Pudlak syndrome with neutropenia
Orphanet:158038	Orphanet:331249	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	570283	\N	\N	EFO	2	EFO	Primary hemophagocytic lymphohistiocytosis	Hermansky-Pudlak syndrome with neutropenia
Orphanet:284811	Orphanet:79430	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	570284	\N	\N	EFO	2	EFO	Syndromic oculocutaneous albinism	Hermansky-Pudlak syndrome with neutropenia
Orphanet:309340	Orphanet:79430	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	570285	\N	\N	EFO	2	EFO	Disorder of lysosomal-related organelles	Hermansky-Pudlak syndrome with neutropenia
Orphanet:98456	Orphanet:79430	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	570286	\N	\N	EFO	2	EFO	Dense granule disease	Hermansky-Pudlak syndrome with neutropenia
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	570287	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Hermansky-Pudlak syndrome with neutropenia
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	1152235	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Hermansky-Pudlak syndrome with neutropenia
Orphanet:169361	Orphanet:158038	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	1152236	\N	\N	EFO	3	EFO	Immune dysregulation disease with immunodeficiency	Hermansky-Pudlak syndrome with neutropenia
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	1152237	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Hermansky-Pudlak syndrome with neutropenia
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	1152238	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Hermansky-Pudlak syndrome with neutropenia
Orphanet:68367	Orphanet:309340	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	1152239	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hermansky-Pudlak syndrome with neutropenia
Orphanet:98454	Orphanet:98456	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	1152240	\N	\N	EFO	3	EFO	Platelet storage pool disease	Hermansky-Pudlak syndrome with neutropenia
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	1152241	\N	\N	EFO	3	EFO	Retinal dystrophy	Hermansky-Pudlak syndrome with neutropenia
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	2034685	\N	\N	EFO	4	EFO	Primary immunodeficiency	Hermansky-Pudlak syndrome with neutropenia
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	2034686	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Hermansky-Pudlak syndrome with neutropenia
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	2034687	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Hermansky-Pudlak syndrome with neutropenia
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	2034688	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Hermansky-Pudlak syndrome with neutropenia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	2034689	\N	\N	EFO	4	EFO	genetic disorder	Hermansky-Pudlak syndrome with neutropenia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	2034690	\N	\N	EFO	4	EFO	metabolic disease	Hermansky-Pudlak syndrome with neutropenia
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	2034691	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Hermansky-Pudlak syndrome with neutropenia
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	2034692	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Hermansky-Pudlak syndrome with neutropenia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	4392762	\N	\N	EFO	6	EFO	Rare genetic immune disease	Hermansky-Pudlak syndrome with neutropenia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	3185169	\N	\N	EFO	5	EFO	Primary immunodeficiency	Hermansky-Pudlak syndrome with neutropenia
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	3185170	\N	\N	EFO	5	EFO	Rare genetic skin disease	Hermansky-Pudlak syndrome with neutropenia
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	3185171	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Hermansky-Pudlak syndrome with neutropenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	6632362	\N	\N	EFO	9	EFO	disease	Hermansky-Pudlak syndrome with neutropenia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	3185173	\N	\N	EFO	5	EFO	disease	Hermansky-Pudlak syndrome with neutropenia
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	3185174	\N	\N	EFO	5	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Hermansky-Pudlak syndrome with neutropenia
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	3185175	\N	\N	EFO	5	EFO	Rare genetic eye disease	Hermansky-Pudlak syndrome with neutropenia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	5181818	\N	\N	EFO	7	EFO	genetic disorder	Hermansky-Pudlak syndrome with neutropenia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	5181819	\N	\N	EFO	7	EFO	immune system disease	Hermansky-Pudlak syndrome with neutropenia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	4392763	\N	\N	EFO	6	EFO	genetic disorder	Hermansky-Pudlak syndrome with neutropenia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	4392764	\N	\N	EFO	6	EFO	skin disease	Hermansky-Pudlak syndrome with neutropenia
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	4392765	\N	\N	EFO	6	EFO	Rare genetic eye disease	Hermansky-Pudlak syndrome with neutropenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	6778624	\N	\N	EFO	10	EFO	disposition	Hermansky-Pudlak syndrome with neutropenia
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	4392767	\N	\N	EFO	6	EFO	Rare genetic coagulation disorder	Hermansky-Pudlak syndrome with neutropenia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	5411422	\N	\N	EFO	7	EFO	genetic disorder	Hermansky-Pudlak syndrome with neutropenia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	5411423	\N	\N	EFO	7	EFO	eye disease	Hermansky-Pudlak syndrome with neutropenia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	5997199	\N	\N	EFO	8	EFO	disease	Hermansky-Pudlak syndrome with neutropenia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	5411421	\N	\N	EFO	7	EFO	disease	Hermansky-Pudlak syndrome with neutropenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	7029839	\N	\N	EFO	11	EFO	material property	Hermansky-Pudlak syndrome with neutropenia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	5411425	\N	\N	EFO	7	EFO	Rare genetic hematologic disease	Hermansky-Pudlak syndrome with neutropenia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	5997200	\N	\N	EFO	8	EFO	disease	Hermansky-Pudlak syndrome with neutropenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	7181750	\N	\N	EFO	12	EFO	experimental factor	Hermansky-Pudlak syndrome with neutropenia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	6148734	\N	\N	EFO	8	EFO	genetic disorder	Hermansky-Pudlak syndrome with neutropenia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	6148735	\N	\N	EFO	8	EFO	hematological system disease	Hermansky-Pudlak syndrome with neutropenia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183678	"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." []	6632363	\N	\N	EFO	9	EFO	disease	Hermansky-Pudlak syndrome with neutropenia
Orphanet:183681	\N	\N	"" []	Orphanet:183681	"" []	74222	\N	\N	EFO	0	EFO	Functional neutrophil defect	Functional neutrophil defect
Orphanet:101988	Orphanet:183681	\N	"" []	Orphanet:183681	"" []	215980	\N	\N	EFO	1	EFO	Primary immunodeficiency due to a defect in innate immunity	Functional neutrophil defect
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:183681	"" []	570288	\N	\N	EFO	2	EFO	Primary immunodeficiency	Functional neutrophil defect
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:183681	"" []	1152242	\N	\N	EFO	3	EFO	Rare genetic immune disease	Functional neutrophil defect
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183681	"" []	2034693	\N	\N	EFO	4	EFO	genetic disorder	Functional neutrophil defect
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:183681	"" []	2034694	\N	\N	EFO	4	EFO	immune system disease	Functional neutrophil defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183681	"" []	3185176	\N	\N	EFO	5	EFO	disease	Functional neutrophil defect
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183681	"" []	3185177	\N	\N	EFO	5	EFO	disease	Functional neutrophil defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183681	"" []	4392770	\N	\N	EFO	6	EFO	disposition	Functional neutrophil defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183681	"" []	5411427	\N	\N	EFO	7	EFO	material property	Functional neutrophil defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183681	"" []	6148736	\N	\N	EFO	8	EFO	experimental factor	Functional neutrophil defect
Orphanet:1837	\N	\N	"" []	Orphanet:1837	"" []	74223	\N	\N	EFO	0	EFO	Ulna metaphyseal dysplasia syndrome	Ulna metaphyseal dysplasia syndrome
Orphanet:93430	Orphanet:1837	\N	"" []	Orphanet:1837	"" []	215981	\N	\N	EFO	1	EFO	Multiple metaphyseal dysplasia	Ulna metaphyseal dysplasia syndrome
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:1837	"" []	570289	\N	\N	EFO	2	EFO	Primary bone dysplasia	Ulna metaphyseal dysplasia syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1837	"" []	1152243	\N	\N	EFO	3	EFO	Rare genetic bone disease	Ulna metaphyseal dysplasia syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1837	"" []	1152244	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Ulna metaphyseal dysplasia syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1837	"" []	2034695	\N	\N	EFO	4	EFO	genetic disorder	Ulna metaphyseal dysplasia syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1837	"" []	2034696	\N	\N	EFO	4	EFO	bone disease	Ulna metaphyseal dysplasia syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1837	"" []	2034697	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ulna metaphyseal dysplasia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1837	"" []	4392773	\N	\N	EFO	6	EFO	disease	Ulna metaphyseal dysplasia syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1837	"" []	3185179	\N	\N	EFO	5	EFO	skeletal system disease	Ulna metaphyseal dysplasia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1837	"" []	3185180	\N	\N	EFO	5	EFO	genetic disorder	Ulna metaphyseal dysplasia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1837	"" []	5181820	\N	\N	EFO	7	EFO	disposition	Ulna metaphyseal dysplasia syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1837	"" []	4392772	\N	\N	EFO	6	EFO	disease	Ulna metaphyseal dysplasia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1837	"" []	5997201	\N	\N	EFO	8	EFO	material property	Ulna metaphyseal dysplasia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1837	"" []	6550704	\N	\N	EFO	9	EFO	experimental factor	Ulna metaphyseal dysplasia syndrome
Orphanet:183707	\N	\N	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	Orphanet:183707	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	74224	\N	\N	EFO	0	EFO	Neutrophil immunodeficiency syndrome	Neutrophil immunodeficiency syndrome
Orphanet:183681	Orphanet:183707	\N	"" []	Orphanet:183707	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	215982	\N	\N	EFO	1	EFO	Functional neutrophil defect	Neutrophil immunodeficiency syndrome
Orphanet:101988	Orphanet:183681	\N	"" []	Orphanet:183707	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	570290	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Neutrophil immunodeficiency syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:183707	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	1152245	\N	\N	EFO	3	EFO	Primary immunodeficiency	Neutrophil immunodeficiency syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:183707	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	2034698	\N	\N	EFO	4	EFO	Rare genetic immune disease	Neutrophil immunodeficiency syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183707	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	3185181	\N	\N	EFO	5	EFO	genetic disorder	Neutrophil immunodeficiency syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:183707	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	3185182	\N	\N	EFO	5	EFO	immune system disease	Neutrophil immunodeficiency syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183707	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	4392774	\N	\N	EFO	6	EFO	disease	Neutrophil immunodeficiency syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183707	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	4392775	\N	\N	EFO	6	EFO	disease	Neutrophil immunodeficiency syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183707	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	5411429	\N	\N	EFO	7	EFO	disposition	Neutrophil immunodeficiency syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183707	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	6148738	\N	\N	EFO	8	EFO	material property	Neutrophil immunodeficiency syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183707	"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." []	6632364	\N	\N	EFO	9	EFO	experimental factor	Neutrophil immunodeficiency syndrome
Orphanet:183710	\N	\N	"" []	Orphanet:183710	"" []	74225	\N	\N	EFO	0	EFO	Genetic susceptibility to infections due to particular pathogens	Genetic susceptibility to infections due to particular pathogens
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:183710	"" []	215983	\N	\N	EFO	1	EFO	Primary immunodeficiency due to a defect in innate immunity	Genetic susceptibility to infections due to particular pathogens
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:183710	"" []	570291	\N	\N	EFO	2	EFO	Primary immunodeficiency	Genetic susceptibility to infections due to particular pathogens
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:183710	"" []	1152246	\N	\N	EFO	3	EFO	Rare genetic immune disease	Genetic susceptibility to infections due to particular pathogens
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183710	"" []	2034699	\N	\N	EFO	4	EFO	genetic disorder	Genetic susceptibility to infections due to particular pathogens
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:183710	"" []	2034700	\N	\N	EFO	4	EFO	immune system disease	Genetic susceptibility to infections due to particular pathogens
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183710	"" []	3185183	\N	\N	EFO	5	EFO	disease	Genetic susceptibility to infections due to particular pathogens
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183710	"" []	3185184	\N	\N	EFO	5	EFO	disease	Genetic susceptibility to infections due to particular pathogens
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183710	"" []	4392776	\N	\N	EFO	6	EFO	disposition	Genetic susceptibility to infections due to particular pathogens
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183710	"" []	5411430	\N	\N	EFO	7	EFO	material property	Genetic susceptibility to infections due to particular pathogens
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183710	"" []	6148739	\N	\N	EFO	8	EFO	experimental factor	Genetic susceptibility to infections due to particular pathogens
Orphanet:183713	\N	\N	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	Orphanet:183713	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	74226	\N	\N	EFO	0	EFO	Pyogenic bacterial infections due to MyD88 deficiency	Pyogenic bacterial infections due to MyD88 deficiency
Orphanet:183710	Orphanet:183713	\N	"" []	Orphanet:183713	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	215984	\N	\N	EFO	1	EFO	Genetic susceptibility to infections due to particular pathogens	Pyogenic bacterial infections due to MyD88 deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:183713	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	570292	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Pyogenic bacterial infections due to MyD88 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:183713	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	1152247	\N	\N	EFO	3	EFO	Primary immunodeficiency	Pyogenic bacterial infections due to MyD88 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:183713	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	2034701	\N	\N	EFO	4	EFO	Rare genetic immune disease	Pyogenic bacterial infections due to MyD88 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183713	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	3185185	\N	\N	EFO	5	EFO	genetic disorder	Pyogenic bacterial infections due to MyD88 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:183713	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	3185186	\N	\N	EFO	5	EFO	immune system disease	Pyogenic bacterial infections due to MyD88 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183713	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	4392777	\N	\N	EFO	6	EFO	disease	Pyogenic bacterial infections due to MyD88 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183713	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	4392778	\N	\N	EFO	6	EFO	disease	Pyogenic bacterial infections due to MyD88 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183713	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	5411431	\N	\N	EFO	7	EFO	disposition	Pyogenic bacterial infections due to MyD88 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183713	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	6148740	\N	\N	EFO	8	EFO	material property	Pyogenic bacterial infections due to MyD88 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183713	"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." []	6632365	\N	\N	EFO	9	EFO	experimental factor	Pyogenic bacterial infections due to MyD88 deficiency
Orphanet:183731	\N	\N	"" []	Orphanet:183731	"" []	74227	\N	\N	EFO	0	EFO	Rare genetic gynecological and obstetrical diseases	Rare genetic gynecological and obstetrical diseases
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183731	"" []	215985	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic gynecological and obstetrical diseases
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:183731	"" []	215986	\N	\N	EFO	1	EFO	reproductive system disease	Rare genetic gynecological and obstetrical diseases
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183731	"" []	570293	\N	\N	EFO	2	EFO	disease	Rare genetic gynecological and obstetrical diseases
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183731	"" []	570294	\N	\N	EFO	2	EFO	disease	Rare genetic gynecological and obstetrical diseases
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183731	"" []	1152248	\N	\N	EFO	3	EFO	disposition	Rare genetic gynecological and obstetrical diseases
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183731	"" []	2034702	\N	\N	EFO	4	EFO	material property	Rare genetic gynecological and obstetrical diseases
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183731	"" []	3185187	\N	\N	EFO	5	EFO	experimental factor	Rare genetic gynecological and obstetrical diseases
Orphanet:183734	\N	\N	"" []	Orphanet:183734	"" []	74228	\N	\N	EFO	0	EFO	Genetic gynecological tumor	Genetic gynecological tumor
EFO:0000512	Orphanet:183734	\N	"any diease of the reproductive system" []	Orphanet:183734	"" []	215987	\N	\N	EFO	1	EFO	reproductive system disease	Genetic gynecological tumor
EFO:0003863	Orphanet:183734	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:183734	"" []	215988	\N	\N	EFO	1	EFO	urogenital neoplasm	Genetic gynecological tumor
Orphanet:68336	Orphanet:183734	\N	"" []	Orphanet:183734	"" []	215989	\N	\N	EFO	1	EFO	Rare genetic tumor	Genetic gynecological tumor
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183734	"" []	570295	\N	\N	EFO	2	EFO	disease	Genetic gynecological tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:183734	"" []	570296	\N	\N	EFO	2	EFO	neoplasm	Genetic gynecological tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183734	"" []	570297	\N	\N	EFO	2	EFO	genetic disorder	Genetic gynecological tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:183734	"" []	570298	\N	\N	EFO	2	EFO	neoplasm	Genetic gynecological tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183734	"" []	2034704	\N	\N	EFO	4	EFO	disposition	Genetic gynecological tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183734	"" []	1152250	\N	\N	EFO	3	EFO	disease	Genetic gynecological tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183734	"" []	1152251	\N	\N	EFO	3	EFO	disease	Genetic gynecological tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183734	"" []	3000173	\N	\N	EFO	5	EFO	material property	Genetic gynecological tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183734	"" []	4133427	\N	\N	EFO	6	EFO	experimental factor	Genetic gynecological tumor
Orphanet:183757	\N	\N	"" []	Orphanet:183757	"" []	74229	\N	\N	EFO	0	EFO	Rare genetic intellectual disability	Rare genetic intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:183757	"" []	215990	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Rare genetic intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183757	"" []	570299	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183757	"" []	1152252	\N	\N	EFO	3	EFO	disease	Rare genetic intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183757	"" []	2034705	\N	\N	EFO	4	EFO	disposition	Rare genetic intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183757	"" []	3185189	\N	\N	EFO	5	EFO	material property	Rare genetic intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183757	"" []	4392779	\N	\N	EFO	6	EFO	experimental factor	Rare genetic intellectual disability
Orphanet:183763	\N	\N	"" []	Orphanet:183763	"" []	74230	\N	\N	EFO	0	EFO	Rare genetic intellectual disability with developmental anomaly	Rare genetic intellectual disability with developmental anomaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:183763	"" []	215991	\N	\N	EFO	1	EFO	Rare genetic intellectual disability	Rare genetic intellectual disability with developmental anomaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:183763	"" []	570300	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Rare genetic intellectual disability with developmental anomaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183763	"" []	1152253	\N	\N	EFO	3	EFO	genetic disorder	Rare genetic intellectual disability with developmental anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183763	"" []	2034706	\N	\N	EFO	4	EFO	disease	Rare genetic intellectual disability with developmental anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183763	"" []	3185190	\N	\N	EFO	5	EFO	disposition	Rare genetic intellectual disability with developmental anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183763	"" []	4392780	\N	\N	EFO	6	EFO	material property	Rare genetic intellectual disability with developmental anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183763	"" []	5411432	\N	\N	EFO	7	EFO	experimental factor	Rare genetic intellectual disability with developmental anomaly
Orphanet:183770	\N	\N	"" []	Orphanet:183770	"" []	74231	\N	\N	EFO	0	EFO	Rare genetic immune disease	Rare genetic immune disease
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:183770	"" []	215992	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic immune disease
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:183770	"" []	215993	\N	\N	EFO	1	EFO	immune system disease	Rare genetic immune disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183770	"" []	570301	\N	\N	EFO	2	EFO	disease	Rare genetic immune disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:183770	"" []	570302	\N	\N	EFO	2	EFO	disease	Rare genetic immune disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:183770	"" []	1152254	\N	\N	EFO	3	EFO	disposition	Rare genetic immune disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:183770	"" []	2034707	\N	\N	EFO	4	EFO	material property	Rare genetic immune disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:183770	"" []	3185191	\N	\N	EFO	5	EFO	experimental factor	Rare genetic immune disease
Orphanet:1839	\N	\N	"" []	Orphanet:1839	"" []	74232	\N	\N	EFO	0	EFO	Hereditary mucoepithelial dysplasia	Hereditary mucoepithelial dysplasia
Orphanet:183494	Orphanet:1839	\N	"" []	Orphanet:1839	"" []	215994	\N	\N	EFO	1	EFO	Genetic immune deficiency with skin involvement	Hereditary mucoepithelial dysplasia
Orphanet:68346	Orphanet:183494	\N	"" []	Orphanet:1839	"" []	570303	\N	\N	EFO	2	EFO	Rare genetic skin disease	Hereditary mucoepithelial dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1839	"" []	1152255	\N	\N	EFO	3	EFO	genetic disorder	Hereditary mucoepithelial dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1839	"" []	1152256	\N	\N	EFO	3	EFO	skin disease	Hereditary mucoepithelial dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1839	"" []	2034708	\N	\N	EFO	4	EFO	disease	Hereditary mucoepithelial dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1839	"" []	2034709	\N	\N	EFO	4	EFO	disease	Hereditary mucoepithelial dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1839	"" []	3185192	\N	\N	EFO	5	EFO	disposition	Hereditary mucoepithelial dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1839	"" []	4392781	\N	\N	EFO	6	EFO	material property	Hereditary mucoepithelial dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1839	"" []	5411433	\N	\N	EFO	7	EFO	experimental factor	Hereditary mucoepithelial dysplasia
Orphanet:184	\N	\N	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	74233	\N	\N	EFO	0	EFO	Cherubism	Cherubism
Orphanet:330206	Orphanet:184	\N	"" []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	215995	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Cherubism
Orphanet:93450	Orphanet:184	\N	"" []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	215996	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Cherubism
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	570304	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cherubism
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	570305	\N	\N	EFO	2	EFO	Primary bone dysplasia	Cherubism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	1152257	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cherubism
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	1152258	\N	\N	EFO	3	EFO	Rare genetic bone disease	Cherubism
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	1152259	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Cherubism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	3185195	\N	\N	EFO	5	EFO	genetic disorder	Cherubism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	2034711	\N	\N	EFO	4	EFO	genetic disorder	Cherubism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	2034712	\N	\N	EFO	4	EFO	bone disease	Cherubism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	2034713	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cherubism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	4133428	\N	\N	EFO	6	EFO	disease	Cherubism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	3185194	\N	\N	EFO	5	EFO	skeletal system disease	Cherubism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	5181821	\N	\N	EFO	7	EFO	disposition	Cherubism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	4392783	\N	\N	EFO	6	EFO	disease	Cherubism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	5997202	\N	\N	EFO	8	EFO	material property	Cherubism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:184	"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." []	6550705	\N	\N	EFO	9	EFO	experimental factor	Cherubism
Orphanet:1842	\N	\N	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	74234	\N	\N	EFO	0	EFO	Bone dysplasia, lethal Holmgren type	Bone dysplasia, lethal Holmgren type
Orphanet:93465	Orphanet:1842	\N	"" []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	215997	\N	\N	EFO	1	EFO	Lethal chondrodysplasia	Bone dysplasia, lethal Holmgren type
Orphanet:364526	Orphanet:93465	\N	"" []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	570306	\N	\N	EFO	2	EFO	Primary bone dysplasia	Bone dysplasia, lethal Holmgren type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	1152260	\N	\N	EFO	3	EFO	Rare genetic bone disease	Bone dysplasia, lethal Holmgren type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	1152261	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Bone dysplasia, lethal Holmgren type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	2034714	\N	\N	EFO	4	EFO	genetic disorder	Bone dysplasia, lethal Holmgren type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	2034715	\N	\N	EFO	4	EFO	bone disease	Bone dysplasia, lethal Holmgren type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	2034716	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Bone dysplasia, lethal Holmgren type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	4392786	\N	\N	EFO	6	EFO	disease	Bone dysplasia, lethal Holmgren type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	3185197	\N	\N	EFO	5	EFO	skeletal system disease	Bone dysplasia, lethal Holmgren type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	3185198	\N	\N	EFO	5	EFO	genetic disorder	Bone dysplasia, lethal Holmgren type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	5181822	\N	\N	EFO	7	EFO	disposition	Bone dysplasia, lethal Holmgren type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	4392785	\N	\N	EFO	6	EFO	disease	Bone dysplasia, lethal Holmgren type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	5997203	\N	\N	EFO	8	EFO	material property	Bone dysplasia, lethal Holmgren type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1842	"Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." []	6550706	\N	\N	EFO	9	EFO	experimental factor	Bone dysplasia, lethal Holmgren type
Orphanet:1844	\N	\N	"" []	Orphanet:1844	"" []	74235	\N	\N	EFO	0	EFO	Bone dysplasia, Azouz type	Bone dysplasia, Azouz type
Orphanet:93450	Orphanet:1844	\N	"" []	Orphanet:1844	"" []	215998	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Bone dysplasia, Azouz type
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:1844	"" []	570307	\N	\N	EFO	2	EFO	Primary bone dysplasia	Bone dysplasia, Azouz type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1844	"" []	1152262	\N	\N	EFO	3	EFO	Rare genetic bone disease	Bone dysplasia, Azouz type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1844	"" []	1152263	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Bone dysplasia, Azouz type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1844	"" []	2034717	\N	\N	EFO	4	EFO	genetic disorder	Bone dysplasia, Azouz type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1844	"" []	2034718	\N	\N	EFO	4	EFO	bone disease	Bone dysplasia, Azouz type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1844	"" []	2034719	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Bone dysplasia, Azouz type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1844	"" []	4392789	\N	\N	EFO	6	EFO	disease	Bone dysplasia, Azouz type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1844	"" []	3185200	\N	\N	EFO	5	EFO	skeletal system disease	Bone dysplasia, Azouz type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1844	"" []	3185201	\N	\N	EFO	5	EFO	genetic disorder	Bone dysplasia, Azouz type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1844	"" []	5181823	\N	\N	EFO	7	EFO	disposition	Bone dysplasia, Azouz type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1844	"" []	4392788	\N	\N	EFO	6	EFO	disease	Bone dysplasia, Azouz type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1844	"" []	5997204	\N	\N	EFO	8	EFO	material property	Bone dysplasia, Azouz type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1844	"" []	6550707	\N	\N	EFO	9	EFO	experimental factor	Bone dysplasia, Azouz type
Orphanet:1848	\N	\N	"Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." []	Orphanet:1848	"Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." []	74236	\N	\N	EFO	0	EFO	Bilateral renal agenesis	Bilateral renal agenesis
Orphanet:357506	Orphanet:1848	\N	"" []	Orphanet:1848	"Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." []	215999	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Bilateral renal agenesis
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:1848	"Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." []	570308	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Bilateral renal agenesis
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1848	"Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." []	1152264	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bilateral renal agenesis
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1848	"Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." []	1152265	\N	\N	EFO	3	EFO	Rare genetic renal disease	Bilateral renal agenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1848	"Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." []	2034720	\N	\N	EFO	4	EFO	genetic disorder	Bilateral renal agenesis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1848	"Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." []	2034721	\N	\N	EFO	4	EFO	genetic disorder	Bilateral renal agenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1848	"Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." []	3185202	\N	\N	EFO	5	EFO	disease	Bilateral renal agenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1848	"Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." []	4392790	\N	\N	EFO	6	EFO	disposition	Bilateral renal agenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1848	"Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." []	5411437	\N	\N	EFO	7	EFO	material property	Bilateral renal agenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1848	"Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." []	6148744	\N	\N	EFO	8	EFO	experimental factor	Bilateral renal agenesis
Orphanet:1849	\N	\N	"" []	Orphanet:1849	"" []	74237	\N	\N	EFO	0	EFO	Infundibulopelvic stenosis - multicystic kidney	Infundibulopelvic stenosis - multicystic kidney
Orphanet:93547	Orphanet:1849	\N	"" []	Orphanet:1849	"" []	216000	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Infundibulopelvic stenosis - multicystic kidney
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1849	"" []	570309	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Infundibulopelvic stenosis - multicystic kidney
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1849	"" []	1152266	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Infundibulopelvic stenosis - multicystic kidney
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1849	"" []	1152267	\N	\N	EFO	3	EFO	Rare genetic renal disease	Infundibulopelvic stenosis - multicystic kidney
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1849	"" []	2034722	\N	\N	EFO	4	EFO	genetic disorder	Infundibulopelvic stenosis - multicystic kidney
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1849	"" []	2034723	\N	\N	EFO	4	EFO	genetic disorder	Infundibulopelvic stenosis - multicystic kidney
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1849	"" []	3185203	\N	\N	EFO	5	EFO	disease	Infundibulopelvic stenosis - multicystic kidney
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1849	"" []	4392791	\N	\N	EFO	6	EFO	disposition	Infundibulopelvic stenosis - multicystic kidney
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1849	"" []	5411438	\N	\N	EFO	7	EFO	material property	Infundibulopelvic stenosis - multicystic kidney
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1849	"" []	6148745	\N	\N	EFO	8	EFO	experimental factor	Infundibulopelvic stenosis - multicystic kidney
Orphanet:1850	\N	\N	"" []	Orphanet:1850	"" []	74238	\N	\N	EFO	0	EFO	Renal dysplasia - megalocystis - sirenomelia	Renal dysplasia - megalocystis - sirenomelia
Orphanet:165707	Orphanet:1850	\N	"" []	Orphanet:1850	"" []	216001	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Renal dysplasia - megalocystis - sirenomelia
Orphanet:330206	Orphanet:1850	\N	"" []	Orphanet:1850	"" []	216002	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Renal dysplasia - megalocystis - sirenomelia
Orphanet:93547	Orphanet:1850	\N	"" []	Orphanet:1850	"" []	216003	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Renal dysplasia - megalocystis - sirenomelia
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:1850	"" []	570310	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Renal dysplasia - megalocystis - sirenomelia
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1850	"" []	570311	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Renal dysplasia - megalocystis - sirenomelia
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1850	"" []	570312	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Renal dysplasia - megalocystis - sirenomelia
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:1850	"" []	1152268	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Renal dysplasia - megalocystis - sirenomelia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1850	"" []	1152269	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renal dysplasia - megalocystis - sirenomelia
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1850	"" []	1152270	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renal dysplasia - megalocystis - sirenomelia
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1850	"" []	1152271	\N	\N	EFO	3	EFO	Rare genetic renal disease	Renal dysplasia - megalocystis - sirenomelia
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1850	"" []	2034724	\N	\N	EFO	4	EFO	genetic disorder	Renal dysplasia - megalocystis - sirenomelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1850	"" []	2034725	\N	\N	EFO	4	EFO	genetic disorder	Renal dysplasia - megalocystis - sirenomelia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1850	"" []	2034726	\N	\N	EFO	4	EFO	genetic disorder	Renal dysplasia - megalocystis - sirenomelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1850	"" []	3185204	\N	\N	EFO	5	EFO	disease	Renal dysplasia - megalocystis - sirenomelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1850	"" []	4392792	\N	\N	EFO	6	EFO	disposition	Renal dysplasia - megalocystis - sirenomelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1850	"" []	5411439	\N	\N	EFO	7	EFO	material property	Renal dysplasia - megalocystis - sirenomelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1850	"" []	6148746	\N	\N	EFO	8	EFO	experimental factor	Renal dysplasia - megalocystis - sirenomelia
Orphanet:1851	\N	\N	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	Orphanet:1851	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	74239	\N	\N	EFO	0	EFO	Multicystic dysplastic kidney	Multicystic dysplastic kidney
Orphanet:357506	Orphanet:1851	\N	"" []	Orphanet:1851	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	216004	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Multicystic dysplastic kidney
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:1851	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	570313	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Multicystic dysplastic kidney
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1851	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	1152272	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Multicystic dysplastic kidney
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1851	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	1152273	\N	\N	EFO	3	EFO	Rare genetic renal disease	Multicystic dysplastic kidney
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1851	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	2034727	\N	\N	EFO	4	EFO	genetic disorder	Multicystic dysplastic kidney
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1851	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	2034728	\N	\N	EFO	4	EFO	genetic disorder	Multicystic dysplastic kidney
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1851	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	3185205	\N	\N	EFO	5	EFO	disease	Multicystic dysplastic kidney
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1851	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	4392793	\N	\N	EFO	6	EFO	disposition	Multicystic dysplastic kidney
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1851	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	5411440	\N	\N	EFO	7	EFO	material property	Multicystic dysplastic kidney
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1851	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	6148747	\N	\N	EFO	8	EFO	experimental factor	Multicystic dysplastic kidney
Orphanet:1852	\N	\N	"" []	Orphanet:1852	"" []	74240	\N	\N	EFO	0	EFO	X-linked retinal dysplasia	X-linked retinal dysplasia
Orphanet:71862	Orphanet:1852	\N	"" []	Orphanet:1852	"" []	216005	\N	\N	EFO	1	EFO	Retinal dystrophy	X-linked retinal dysplasia
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1852	"" []	570314	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	X-linked retinal dysplasia
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1852	"" []	1152274	\N	\N	EFO	3	EFO	Rare genetic eye disease	X-linked retinal dysplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1852	"" []	2034729	\N	\N	EFO	4	EFO	genetic disorder	X-linked retinal dysplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1852	"" []	2034730	\N	\N	EFO	4	EFO	eye disease	X-linked retinal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1852	"" []	3185206	\N	\N	EFO	5	EFO	disease	X-linked retinal dysplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1852	"" []	3185207	\N	\N	EFO	5	EFO	disease	X-linked retinal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1852	"" []	4392794	\N	\N	EFO	6	EFO	disposition	X-linked retinal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1852	"" []	5411441	\N	\N	EFO	7	EFO	material property	X-linked retinal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1852	"" []	6148748	\N	\N	EFO	8	EFO	experimental factor	X-linked retinal dysplasia
Orphanet:1855	\N	\N	"" []	Orphanet:1855	"" []	74241	\N	\N	EFO	0	EFO	Spondyloenchondrodysplasia	Spondyloenchondrodysplasia
Orphanet:169355	Orphanet:1855	\N	"" []	Orphanet:1855	"" []	216006	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with autoimmunity	Spondyloenchondrodysplasia
Orphanet:254	Orphanet:1855	\N	"" []	Orphanet:1855	"" []	216007	\N	\N	EFO	1	EFO	Spondylometaphyseal dysplasia	Spondyloenchondrodysplasia
Orphanet:169361	Orphanet:169355	\N	"" []	Orphanet:1855	"" []	570315	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Spondyloenchondrodysplasia
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:1855	"" []	570316	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloenchondrodysplasia
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:1855	"" []	1152275	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Spondyloenchondrodysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1855	"" []	1152276	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloenchondrodysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1855	"" []	1152277	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloenchondrodysplasia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:1855	"" []	2034731	\N	\N	EFO	4	EFO	Primary immunodeficiency	Spondyloenchondrodysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1855	"" []	2034732	\N	\N	EFO	4	EFO	genetic disorder	Spondyloenchondrodysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1855	"" []	2034733	\N	\N	EFO	4	EFO	bone disease	Spondyloenchondrodysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1855	"" []	2034734	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloenchondrodysplasia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:1855	"" []	3185208	\N	\N	EFO	5	EFO	Rare genetic immune disease	Spondyloenchondrodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1855	"" []	5411442	\N	\N	EFO	7	EFO	disease	Spondyloenchondrodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1855	"" []	3185210	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloenchondrodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1855	"" []	3185211	\N	\N	EFO	5	EFO	genetic disorder	Spondyloenchondrodysplasia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1855	"" []	4392795	\N	\N	EFO	6	EFO	genetic disorder	Spondyloenchondrodysplasia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:1855	"" []	4392796	\N	\N	EFO	6	EFO	immune system disease	Spondyloenchondrodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1855	"" []	5876883	\N	\N	EFO	8	EFO	disposition	Spondyloenchondrodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1855	"" []	4392798	\N	\N	EFO	6	EFO	disease	Spondyloenchondrodysplasia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1855	"" []	5411443	\N	\N	EFO	7	EFO	disease	Spondyloenchondrodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1855	"" []	6470093	\N	\N	EFO	9	EFO	material property	Spondyloenchondrodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1855	"" []	6848351	\N	\N	EFO	10	EFO	experimental factor	Spondyloenchondrodysplasia
Orphanet:1856	\N	\N	"" []	Orphanet:1856	"" []	74242	\N	\N	EFO	0	EFO	Spondyloperipheral dysplasia - short ulna	Spondyloperipheral dysplasia - short ulna
Orphanet:253	Orphanet:1856	\N	"" []	Orphanet:1856	"" []	216008	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloperipheral dysplasia - short ulna
Orphanet:93421	Orphanet:1856	\N	"" []	Orphanet:1856	"" []	216009	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Spondyloperipheral dysplasia - short ulna
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:1856	"" []	570317	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloperipheral dysplasia - short ulna
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:1856	"" []	570318	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Spondyloperipheral dysplasia - short ulna
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1856	"" []	1152278	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloperipheral dysplasia - short ulna
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1856	"" []	1152279	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloperipheral dysplasia - short ulna
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:1856	"" []	1152280	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloperipheral dysplasia - short ulna
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1856	"" []	2034735	\N	\N	EFO	4	EFO	genetic disorder	Spondyloperipheral dysplasia - short ulna
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1856	"" []	2034736	\N	\N	EFO	4	EFO	bone disease	Spondyloperipheral dysplasia - short ulna
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1856	"" []	2034737	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloperipheral dysplasia - short ulna
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1856	"" []	4392802	\N	\N	EFO	6	EFO	disease	Spondyloperipheral dysplasia - short ulna
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1856	"" []	3185213	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloperipheral dysplasia - short ulna
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1856	"" []	3185214	\N	\N	EFO	5	EFO	genetic disorder	Spondyloperipheral dysplasia - short ulna
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1856	"" []	5181825	\N	\N	EFO	7	EFO	disposition	Spondyloperipheral dysplasia - short ulna
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1856	"" []	4392801	\N	\N	EFO	6	EFO	disease	Spondyloperipheral dysplasia - short ulna
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1856	"" []	5997206	\N	\N	EFO	8	EFO	material property	Spondyloperipheral dysplasia - short ulna
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1856	"" []	6550709	\N	\N	EFO	9	EFO	experimental factor	Spondyloperipheral dysplasia - short ulna
Orphanet:1858	\N	\N	"" []	Orphanet:1858	"" []	74243	\N	\N	EFO	0	EFO	Skeletal dysplasia - epilepsy - short stature	Skeletal dysplasia - epilepsy - short stature
Orphanet:183763	Orphanet:1858	\N	"" []	Orphanet:1858	"" []	216010	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Skeletal dysplasia - epilepsy - short stature
Orphanet:69028	Orphanet:1858	\N	"" []	Orphanet:1858	"" []	216011	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Skeletal dysplasia - epilepsy - short stature
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1858	"" []	570319	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Skeletal dysplasia - epilepsy - short stature
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:1858	"" []	570320	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Skeletal dysplasia - epilepsy - short stature
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:1858	"" []	570321	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Skeletal dysplasia - epilepsy - short stature
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1858	"" []	1152281	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Skeletal dysplasia - epilepsy - short stature
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1858	"" []	1152282	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Skeletal dysplasia - epilepsy - short stature
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1858	"" []	1152283	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Skeletal dysplasia - epilepsy - short stature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1858	"" []	2034738	\N	\N	EFO	4	EFO	genetic disorder	Skeletal dysplasia - epilepsy - short stature
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1858	"" []	2034739	\N	\N	EFO	4	EFO	Rare genetic bone disease	Skeletal dysplasia - epilepsy - short stature
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1858	"" []	2034740	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Skeletal dysplasia - epilepsy - short stature
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1858	"" []	2034741	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Skeletal dysplasia - epilepsy - short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1858	"" []	5181827	\N	\N	EFO	7	EFO	disease	Skeletal dysplasia - epilepsy - short stature
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1858	"" []	3185216	\N	\N	EFO	5	EFO	genetic disorder	Skeletal dysplasia - epilepsy - short stature
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1858	"" []	3185217	\N	\N	EFO	5	EFO	bone disease	Skeletal dysplasia - epilepsy - short stature
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1858	"" []	3185218	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Skeletal dysplasia - epilepsy - short stature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1858	"" []	4392806	\N	\N	EFO	6	EFO	genetic disorder	Skeletal dysplasia - epilepsy - short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1858	"" []	5876884	\N	\N	EFO	8	EFO	disposition	Skeletal dysplasia - epilepsy - short stature
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1858	"" []	4392805	\N	\N	EFO	6	EFO	skeletal system disease	Skeletal dysplasia - epilepsy - short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1858	"" []	6470094	\N	\N	EFO	9	EFO	material property	Skeletal dysplasia - epilepsy - short stature
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1858	"" []	5411447	\N	\N	EFO	7	EFO	disease	Skeletal dysplasia - epilepsy - short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1858	"" []	6848352	\N	\N	EFO	10	EFO	experimental factor	Skeletal dysplasia - epilepsy - short stature
Orphanet:1860	\N	\N	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	74244	\N	\N	EFO	0	EFO	Thanatophoric dysplasia type 1	Thanatophoric dysplasia type 1
Orphanet:2655	Orphanet:1860	\N	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	216012	\N	\N	EFO	1	EFO	Thanatophoric dysplasia	Thanatophoric dysplasia type 1
Orphanet:364536	Orphanet:2655	\N	"" []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	570322	\N	\N	EFO	2	EFO	Primary bone dysplasia with micromelia	Thanatophoric dysplasia type 1
Orphanet:93420	Orphanet:2655	\N	"" []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	570323	\N	\N	EFO	2	EFO	FGFR3-related chondrodysplasia	Thanatophoric dysplasia type 1
Orphanet:364526	Orphanet:364536	\N	"" []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	1152284	\N	\N	EFO	3	EFO	Primary bone dysplasia	Thanatophoric dysplasia type 1
Orphanet:364803	Orphanet:93420	\N	"" []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	1152285	\N	\N	EFO	3	EFO	Rare bone disease related to a common gene or pathway defect	Thanatophoric dysplasia type 1
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	2034742	\N	\N	EFO	4	EFO	Rare genetic bone disease	Thanatophoric dysplasia type 1
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	2034743	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Thanatophoric dysplasia type 1
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	2034744	\N	\N	EFO	4	EFO	Rare genetic bone disease	Thanatophoric dysplasia type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	3185220	\N	\N	EFO	5	EFO	genetic disorder	Thanatophoric dysplasia type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	3185221	\N	\N	EFO	5	EFO	bone disease	Thanatophoric dysplasia type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	3185222	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Thanatophoric dysplasia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	5411450	\N	\N	EFO	7	EFO	disease	Thanatophoric dysplasia type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	4392808	\N	\N	EFO	6	EFO	skeletal system disease	Thanatophoric dysplasia type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	4392809	\N	\N	EFO	6	EFO	genetic disorder	Thanatophoric dysplasia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	5997208	\N	\N	EFO	8	EFO	disposition	Thanatophoric dysplasia type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	5411449	\N	\N	EFO	7	EFO	disease	Thanatophoric dysplasia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	6550711	\N	\N	EFO	9	EFO	material property	Thanatophoric dysplasia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1860	"Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." []	6889089	\N	\N	EFO	10	EFO	experimental factor	Thanatophoric dysplasia type 1
Orphanet:1864	\N	\N	"" []	Orphanet:1864	"" []	74245	\N	\N	EFO	0	EFO	Congenital valvular dysplasia	Congenital valvular dysplasia
Orphanet:271853	Orphanet:1864	\N	"" []	Orphanet:1864	"" []	216013	\N	\N	EFO	1	EFO	Genetic cardiac anomaly	Congenital valvular dysplasia
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:1864	"" []	570324	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Congenital valvular dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1864	"" []	1152286	\N	\N	EFO	3	EFO	genetic disorder	Congenital valvular dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1864	"" []	2034745	\N	\N	EFO	4	EFO	disease	Congenital valvular dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1864	"" []	3185223	\N	\N	EFO	5	EFO	disposition	Congenital valvular dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1864	"" []	4392810	\N	\N	EFO	6	EFO	material property	Congenital valvular dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1864	"" []	5411451	\N	\N	EFO	7	EFO	experimental factor	Congenital valvular dysplasia
Orphanet:1865	\N	\N	"" []	Orphanet:1865	"" []	74246	\N	\N	EFO	0	EFO	Dyssegmental dysplasia, Silverman-Handmaker type	Dyssegmental dysplasia, Silverman-Handmaker type
Orphanet:253	Orphanet:1865	\N	"" []	Orphanet:1865	"" []	216014	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Dyssegmental dysplasia, Silverman-Handmaker type
Orphanet:93424	Orphanet:1865	\N	"" []	Orphanet:1865	"" []	216015	\N	\N	EFO	1	EFO	Perlecan-related bone disorder	Dyssegmental dysplasia, Silverman-Handmaker type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:1865	"" []	570325	\N	\N	EFO	2	EFO	Primary bone dysplasia	Dyssegmental dysplasia, Silverman-Handmaker type
Orphanet:364803	Orphanet:93424	\N	"" []	Orphanet:1865	"" []	570326	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Dyssegmental dysplasia, Silverman-Handmaker type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1865	"" []	1152287	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dyssegmental dysplasia, Silverman-Handmaker type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1865	"" []	1152288	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dyssegmental dysplasia, Silverman-Handmaker type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:1865	"" []	1152289	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dyssegmental dysplasia, Silverman-Handmaker type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1865	"" []	2034746	\N	\N	EFO	4	EFO	genetic disorder	Dyssegmental dysplasia, Silverman-Handmaker type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1865	"" []	2034747	\N	\N	EFO	4	EFO	bone disease	Dyssegmental dysplasia, Silverman-Handmaker type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1865	"" []	2034748	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dyssegmental dysplasia, Silverman-Handmaker type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1865	"" []	4392813	\N	\N	EFO	6	EFO	disease	Dyssegmental dysplasia, Silverman-Handmaker type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1865	"" []	3185225	\N	\N	EFO	5	EFO	skeletal system disease	Dyssegmental dysplasia, Silverman-Handmaker type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1865	"" []	3185226	\N	\N	EFO	5	EFO	genetic disorder	Dyssegmental dysplasia, Silverman-Handmaker type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1865	"" []	5181828	\N	\N	EFO	7	EFO	disposition	Dyssegmental dysplasia, Silverman-Handmaker type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1865	"" []	4392812	\N	\N	EFO	6	EFO	disease	Dyssegmental dysplasia, Silverman-Handmaker type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1865	"" []	5997209	\N	\N	EFO	8	EFO	material property	Dyssegmental dysplasia, Silverman-Handmaker type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1865	"" []	6550712	\N	\N	EFO	9	EFO	experimental factor	Dyssegmental dysplasia, Silverman-Handmaker type
Orphanet:1866	\N	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	74247	\N	\N	EFO	0	EFO	Focal, segmental or multifocal dystonia	Focal, segmental or multifocal dystonia
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	216016	\N	\N	EFO	1	EFO	Isolated dystonia	Focal, segmental or multifocal dystonia
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	570327	\N	\N	EFO	2	EFO	Rare genetic dystonia	Focal, segmental or multifocal dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	1152290	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Focal, segmental or multifocal dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	2034749	\N	\N	EFO	4	EFO	movement disorder	Focal, segmental or multifocal dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	2034750	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Focal, segmental or multifocal dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	3185227	\N	\N	EFO	5	EFO	nervous system disease	Focal, segmental or multifocal dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	3185228	\N	\N	EFO	5	EFO	genetic disorder	Focal, segmental or multifocal dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	4392814	\N	\N	EFO	6	EFO	disease	Focal, segmental or multifocal dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	4392815	\N	\N	EFO	6	EFO	disease	Focal, segmental or multifocal dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	5411453	\N	\N	EFO	7	EFO	disposition	Focal, segmental or multifocal dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	6148754	\N	\N	EFO	8	EFO	material property	Focal, segmental or multifocal dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1866	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	6632367	\N	\N	EFO	9	EFO	experimental factor	Focal, segmental or multifocal dystonia
Orphanet:1867	\N	\N	"" []	Orphanet:1867	"" []	74248	\N	\N	EFO	0	EFO	Bullous dystrophy, macular type	Bullous dystrophy, macular type
Orphanet:79360	Orphanet:1867	\N	"" []	Orphanet:1867	"" []	216017	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Bullous dystrophy, macular type
Orphanet:98464	Orphanet:1867	\N	"" []	Orphanet:1867	"" []	216018	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Bullous dystrophy, macular type
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:1867	"" []	570328	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Bullous dystrophy, macular type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:1867	"" []	570329	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Bullous dystrophy, macular type
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:1867	"" []	1152291	\N	\N	EFO	3	EFO	Rare genetic skin disease	Bullous dystrophy, macular type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1867	"" []	1152292	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Bullous dystrophy, macular type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1867	"" []	2034751	\N	\N	EFO	4	EFO	genetic disorder	Bullous dystrophy, macular type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1867	"" []	2034752	\N	\N	EFO	4	EFO	skin disease	Bullous dystrophy, macular type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1867	"" []	2034753	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Bullous dystrophy, macular type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1867	"" []	4392817	\N	\N	EFO	6	EFO	disease	Bullous dystrophy, macular type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1867	"" []	3185230	\N	\N	EFO	5	EFO	disease	Bullous dystrophy, macular type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1867	"" []	3185231	\N	\N	EFO	5	EFO	genetic disorder	Bullous dystrophy, macular type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1867	"" []	5181829	\N	\N	EFO	7	EFO	disposition	Bullous dystrophy, macular type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1867	"" []	5997210	\N	\N	EFO	8	EFO	material property	Bullous dystrophy, macular type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1867	"" []	6550713	\N	\N	EFO	9	EFO	experimental factor	Bullous dystrophy, macular type
Orphanet:187	\N	\N	"" []	Orphanet:187	"" []	74249	\N	\N	EFO	0	EFO	Citrullinemia	Citrullinemia
Orphanet:79167	Orphanet:187	\N	"" []	Orphanet:187	"" []	216019	\N	\N	EFO	1	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Citrullinemia
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:187	"" []	570330	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Citrullinemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:187	"" []	1152293	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Citrullinemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:187	"" []	2034754	\N	\N	EFO	4	EFO	genetic disorder	Citrullinemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:187	"" []	2034755	\N	\N	EFO	4	EFO	metabolic disease	Citrullinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:187	"" []	3185232	\N	\N	EFO	5	EFO	disease	Citrullinemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:187	"" []	3185233	\N	\N	EFO	5	EFO	disease	Citrullinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:187	"" []	4392818	\N	\N	EFO	6	EFO	disposition	Citrullinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:187	"" []	5411455	\N	\N	EFO	7	EFO	material property	Citrullinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:187	"" []	6148756	\N	\N	EFO	8	EFO	experimental factor	Citrullinemia
Orphanet:1871	\N	\N	"" []	Orphanet:1871	"" []	74250	\N	\N	EFO	0	EFO	Progressive cone dystrophy	Progressive cone dystrophy
Orphanet:98664	Orphanet:1871	\N	"" []	Orphanet:1871	"" []	216020	\N	\N	EFO	1	EFO	Genetic macular dystrophy	Progressive cone dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:1871	"" []	570331	\N	\N	EFO	2	EFO	Retinal dystrophy	Progressive cone dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1871	"" []	1152294	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Progressive cone dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1871	"" []	2034756	\N	\N	EFO	4	EFO	Rare genetic eye disease	Progressive cone dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1871	"" []	3185234	\N	\N	EFO	5	EFO	genetic disorder	Progressive cone dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1871	"" []	3185235	\N	\N	EFO	5	EFO	eye disease	Progressive cone dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1871	"" []	4392819	\N	\N	EFO	6	EFO	disease	Progressive cone dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1871	"" []	4392820	\N	\N	EFO	6	EFO	disease	Progressive cone dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1871	"" []	5411456	\N	\N	EFO	7	EFO	disposition	Progressive cone dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1871	"" []	6148757	\N	\N	EFO	8	EFO	material property	Progressive cone dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1871	"" []	6632368	\N	\N	EFO	9	EFO	experimental factor	Progressive cone dystrophy
Orphanet:1872	\N	\N	"" []	Orphanet:1872	"" []	74251	\N	\N	EFO	0	EFO	Cone rod dystrophy	Cone rod dystrophy
Orphanet:98666	Orphanet:1872	\N	"" []	Orphanet:1872	"" []	216021	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Cone rod dystrophy
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:1872	"" []	570332	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Cone rod dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:1872	"" []	1152295	\N	\N	EFO	3	EFO	Retinal dystrophy	Cone rod dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1872	"" []	2034757	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Cone rod dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1872	"" []	3185236	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cone rod dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1872	"" []	4392821	\N	\N	EFO	6	EFO	genetic disorder	Cone rod dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1872	"" []	4392822	\N	\N	EFO	6	EFO	eye disease	Cone rod dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1872	"" []	5411457	\N	\N	EFO	7	EFO	disease	Cone rod dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1872	"" []	5411458	\N	\N	EFO	7	EFO	disease	Cone rod dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1872	"" []	6148758	\N	\N	EFO	8	EFO	disposition	Cone rod dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1872	"" []	6632369	\N	\N	EFO	9	EFO	material property	Cone rod dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1872	"" []	6925503	\N	\N	EFO	10	EFO	experimental factor	Cone rod dystrophy
Orphanet:1873	\N	\N	"" []	Orphanet:1873	"" []	74252	\N	\N	EFO	0	EFO	Jalili syndrome	Jalili syndrome
Orphanet:183580	Orphanet:1873	\N	"" []	Orphanet:1873	"" []	216022	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Jalili syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:1873	"" []	570333	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Jalili syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1873	"" []	1152296	\N	\N	EFO	3	EFO	genetic disorder	Jalili syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1873	"" []	2034758	\N	\N	EFO	4	EFO	disease	Jalili syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1873	"" []	3185237	\N	\N	EFO	5	EFO	disposition	Jalili syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1873	"" []	4392823	\N	\N	EFO	6	EFO	material property	Jalili syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1873	"" []	5411459	\N	\N	EFO	7	EFO	experimental factor	Jalili syndrome
Orphanet:1875	\N	\N	"" []	Orphanet:1875	"" []	74253	\N	\N	EFO	0	EFO	Congenital muscular dystrophy - infantile cataract - hypogonadism	Congenital muscular dystrophy - infantile cataract - hypogonadism
Orphanet:97242	Orphanet:1875	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:1875	"" []	216023	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy - infantile cataract - hypogonadism
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:1875	"" []	570334	\N	\N	EFO	2	EFO	Muscular dystrophy	Congenital muscular dystrophy - infantile cataract - hypogonadism
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:1875	"" []	1152297	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy - infantile cataract - hypogonadism
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:1875	"" []	2034759	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy - infantile cataract - hypogonadism
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:1875	"" []	3185238	\N	\N	EFO	5	EFO	muscular disease	Congenital muscular dystrophy - infantile cataract - hypogonadism
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:1875	"" []	3185239	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy - infantile cataract - hypogonadism
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1875	"" []	4392824	\N	\N	EFO	6	EFO	skeletal system disease	Congenital muscular dystrophy - infantile cataract - hypogonadism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1875	"" []	4392825	\N	\N	EFO	6	EFO	genetic disorder	Congenital muscular dystrophy - infantile cataract - hypogonadism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1875	"" []	5411460	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy - infantile cataract - hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1875	"" []	5411461	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy - infantile cataract - hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1875	"" []	6148759	\N	\N	EFO	8	EFO	disposition	Congenital muscular dystrophy - infantile cataract - hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1875	"" []	6632370	\N	\N	EFO	9	EFO	material property	Congenital muscular dystrophy - infantile cataract - hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1875	"" []	6925504	\N	\N	EFO	10	EFO	experimental factor	Congenital muscular dystrophy - infantile cataract - hypogonadism
Orphanet:1876	\N	\N	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	74254	\N	\N	EFO	0	EFO	Oculogastrointestinal muscular dystrophy	Oculogastrointestinal muscular dystrophy
Orphanet:104009	Orphanet:1876	\N	"" []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	216024	\N	\N	EFO	1	EFO	Congenital intestinal motility disorder	Oculogastrointestinal muscular dystrophy
Orphanet:98578	Orphanet:1876	\N	"" []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	216025	\N	\N	EFO	1	EFO	Ptosis	Oculogastrointestinal muscular dystrophy
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	570335	\N	\N	EFO	2	EFO	Genetic intestinal disease	Oculogastrointestinal muscular dystrophy
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	570336	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Oculogastrointestinal muscular dystrophy
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	1152298	\N	\N	EFO	3	EFO	digestive system disease	Oculogastrointestinal muscular dystrophy
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	1152299	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Oculogastrointestinal muscular dystrophy
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	1152300	\N	\N	EFO	3	EFO	Rare palpebral disease	Oculogastrointestinal muscular dystrophy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	2034760	\N	\N	EFO	4	EFO	disease	Oculogastrointestinal muscular dystrophy
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	2034761	\N	\N	EFO	4	EFO	genetic disorder	Oculogastrointestinal muscular dystrophy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	2034762	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Oculogastrointestinal muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	5876885	\N	\N	EFO	8	EFO	disposition	Oculogastrointestinal muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	5411463	\N	\N	EFO	7	EFO	disease	Oculogastrointestinal muscular dystrophy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	3185242	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oculogastrointestinal muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	6409894	\N	\N	EFO	9	EFO	material property	Oculogastrointestinal muscular dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	4392828	\N	\N	EFO	6	EFO	genetic disorder	Oculogastrointestinal muscular dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	4392829	\N	\N	EFO	6	EFO	eye disease	Oculogastrointestinal muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	6807743	\N	\N	EFO	10	EFO	experimental factor	Oculogastrointestinal muscular dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1876	"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." []	5411464	\N	\N	EFO	7	EFO	disease	Oculogastrointestinal muscular dystrophy
Orphanet:1877	\N	\N	"" []	Orphanet:1877	"" []	74255	\N	\N	EFO	0	EFO	Muscular dystrophy - white matter spongiosis	Muscular dystrophy - white matter spongiosis
Orphanet:206634	Orphanet:1877	\N	"" []	Orphanet:1877	"" []	216026	\N	\N	EFO	1	EFO	Genetic skeletal muscle disease	Muscular dystrophy - white matter spongiosis
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:1877	"" []	570337	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Muscular dystrophy - white matter spongiosis
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:1877	"" []	1152301	\N	\N	EFO	3	EFO	muscular disease	Muscular dystrophy - white matter spongiosis
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:1877	"" []	1152302	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Muscular dystrophy - white matter spongiosis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1877	"" []	2034763	\N	\N	EFO	4	EFO	skeletal system disease	Muscular dystrophy - white matter spongiosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1877	"" []	2034764	\N	\N	EFO	4	EFO	genetic disorder	Muscular dystrophy - white matter spongiosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1877	"" []	3185243	\N	\N	EFO	5	EFO	disease	Muscular dystrophy - white matter spongiosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1877	"" []	3185244	\N	\N	EFO	5	EFO	disease	Muscular dystrophy - white matter spongiosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1877	"" []	4392830	\N	\N	EFO	6	EFO	disposition	Muscular dystrophy - white matter spongiosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1877	"" []	5411465	\N	\N	EFO	7	EFO	material property	Muscular dystrophy - white matter spongiosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1877	"" []	6148760	\N	\N	EFO	8	EFO	experimental factor	Muscular dystrophy - white matter spongiosis
Orphanet:1878	\N	\N	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	74256	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2H	Autosomal recessive limb-girdle muscular dystrophy type 2H
Orphanet:102015	Orphanet:1878	\N	"" []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	216027	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2H
Orphanet:207107	Orphanet:1878	\N	"" []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	216028	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of TRIM32	Autosomal recessive limb-girdle muscular dystrophy type 2H
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	570338	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2H
Orphanet:207049	Orphanet:207107	\N	"" []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	570339	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2H
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	1152303	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2H
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	1152304	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2H
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	2034765	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2H
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	5411466	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2H
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	5411467	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2H
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	3185245	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2H
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	5817525	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2H
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	5817526	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2H
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	4392831	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2H
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	6409895	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2H
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	6409896	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2H
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	6807744	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2H
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	7048573	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2H
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1878	"Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." []	7190195	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2H
Orphanet:1879	\N	\N	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	74257	\N	\N	EFO	0	EFO	Melorheostosis with osteopoikilosis	Melorheostosis with osteopoikilosis
Orphanet:2781	Orphanet:1879	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	216029	\N	\N	EFO	1	EFO	Osteopetrosis	Melorheostosis with osteopoikilosis
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	570340	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Melorheostosis with osteopoikilosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	1152305	\N	\N	EFO	3	EFO	Primary bone dysplasia	Melorheostosis with osteopoikilosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	2034768	\N	\N	EFO	4	EFO	Rare genetic bone disease	Melorheostosis with osteopoikilosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	2034769	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Melorheostosis with osteopoikilosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	3185248	\N	\N	EFO	5	EFO	genetic disorder	Melorheostosis with osteopoikilosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	3185249	\N	\N	EFO	5	EFO	bone disease	Melorheostosis with osteopoikilosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	3185250	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Melorheostosis with osteopoikilosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	5411471	\N	\N	EFO	7	EFO	disease	Melorheostosis with osteopoikilosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	4392835	\N	\N	EFO	6	EFO	skeletal system disease	Melorheostosis with osteopoikilosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	4392836	\N	\N	EFO	6	EFO	genetic disorder	Melorheostosis with osteopoikilosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	5997212	\N	\N	EFO	8	EFO	disposition	Melorheostosis with osteopoikilosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	5411470	\N	\N	EFO	7	EFO	disease	Melorheostosis with osteopoikilosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	6550714	\N	\N	EFO	9	EFO	material property	Melorheostosis with osteopoikilosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1879	"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." []	6889090	\N	\N	EFO	10	EFO	experimental factor	Melorheostosis with osteopoikilosis
Orphanet:1882	\N	\N	"" []	Orphanet:1882	"" []	74258	\N	\N	EFO	0	EFO	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Orphanet:177107	Orphanet:1882	\N	"" []	Orphanet:1882	"" []	216030	\N	\N	EFO	1	EFO	Syndromic hypothyroidism	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Orphanet:79373	Orphanet:1882	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1882	"" []	216031	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Orphanet:226292	Orphanet:177107	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:1882	"" []	570341	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1882	"" []	570342	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1882	"" []	570343	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:1882	"" []	1152306	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1882	"" []	1152307	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1882	"" []	1152308	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:1882	"" []	2034770	\N	\N	EFO	4	EFO	Rare hypothyroidism	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1882	"" []	2034771	\N	\N	EFO	4	EFO	genetic disorder	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1882	"" []	2034772	\N	\N	EFO	4	EFO	genetic disorder	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1882	"" []	2034773	\N	\N	EFO	4	EFO	skin disease	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:1882	"" []	3185251	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1882	"" []	6148764	\N	\N	EFO	8	EFO	disease	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1882	"" []	3185253	\N	\N	EFO	5	EFO	disease	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:1882	"" []	4392837	\N	\N	EFO	6	EFO	thyroid disease	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:1882	"" []	4392838	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1882	"" []	6409897	\N	\N	EFO	9	EFO	disposition	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1882	"" []	5411472	\N	\N	EFO	7	EFO	endocrine system disease	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1882	"" []	5411473	\N	\N	EFO	7	EFO	genetic disorder	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1882	"" []	5411474	\N	\N	EFO	7	EFO	endocrine system disease	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1882	"" []	6807745	\N	\N	EFO	10	EFO	material property	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1882	"" []	6148763	\N	\N	EFO	8	EFO	disease	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1882	"" []	7048574	\N	\N	EFO	11	EFO	experimental factor	Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
Orphanet:1883	\N	\N	"" []	Orphanet:1883	"" []	74259	\N	\N	EFO	0	EFO	Ectodermal dysplasia - sensorineural deafness	Ectodermal dysplasia - sensorineural deafness
Orphanet:79373	Orphanet:1883	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1883	"" []	216032	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ectodermal dysplasia - sensorineural deafness
Orphanet:90642	Orphanet:1883	\N	"" []	Orphanet:1883	"" []	216033	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Ectodermal dysplasia - sensorineural deafness
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1883	"" []	570344	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ectodermal dysplasia - sensorineural deafness
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1883	"" []	570345	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ectodermal dysplasia - sensorineural deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:1883	"" []	570346	\N	\N	EFO	2	EFO	Rare genetic deafness	Ectodermal dysplasia - sensorineural deafness
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1883	"" []	1152309	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia - sensorineural deafness
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1883	"" []	1152310	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ectodermal dysplasia - sensorineural deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1883	"" []	1152311	\N	\N	EFO	3	EFO	genetic disorder	Ectodermal dysplasia - sensorineural deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:1883	"" []	1152312	\N	\N	EFO	3	EFO	auditory system disease	Ectodermal dysplasia - sensorineural deafness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1883	"" []	2034774	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia - sensorineural deafness
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1883	"" []	2034775	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia - sensorineural deafness
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1883	"" []	2034776	\N	\N	EFO	4	EFO	skin disease	Ectodermal dysplasia - sensorineural deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1883	"" []	3185254	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia - sensorineural deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:1883	"" []	2034778	\N	\N	EFO	4	EFO	sensory system disease	Ectodermal dysplasia - sensorineural deafness
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1883	"" []	3185255	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia - sensorineural deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1883	"" []	5411477	\N	\N	EFO	7	EFO	disposition	Ectodermal dysplasia - sensorineural deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1883	"" []	3185257	\N	\N	EFO	5	EFO	nervous system disease	Ectodermal dysplasia - sensorineural deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1883	"" []	5876886	\N	\N	EFO	8	EFO	material property	Ectodermal dysplasia - sensorineural deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1883	"" []	4392841	\N	\N	EFO	6	EFO	disease	Ectodermal dysplasia - sensorineural deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1883	"" []	6470095	\N	\N	EFO	9	EFO	experimental factor	Ectodermal dysplasia - sensorineural deafness
Orphanet:1884	\N	\N	"" []	Orphanet:1884	"" []	74260	\N	\N	EFO	0	EFO	Ectopia lentis - chorioretinal dystrophy - myopia	Ectopia lentis - chorioretinal dystrophy - myopia
Orphanet:71862	Orphanet:1884	\N	"" []	Orphanet:1884	"" []	216034	\N	\N	EFO	1	EFO	Retinal dystrophy	Ectopia lentis - chorioretinal dystrophy - myopia
Orphanet:98653	Orphanet:1884	\N	"" []	Orphanet:1884	"" []	216035	\N	\N	EFO	1	EFO	Lens position anomaly	Ectopia lentis - chorioretinal dystrophy - myopia
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1884	"" []	570347	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Ectopia lentis - chorioretinal dystrophy - myopia
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:1884	"" []	570348	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Ectopia lentis - chorioretinal dystrophy - myopia
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1884	"" []	1152313	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ectopia lentis - chorioretinal dystrophy - myopia
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1884	"" []	1152314	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ectopia lentis - chorioretinal dystrophy - myopia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1884	"" []	2034779	\N	\N	EFO	4	EFO	genetic disorder	Ectopia lentis - chorioretinal dystrophy - myopia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1884	"" []	2034780	\N	\N	EFO	4	EFO	eye disease	Ectopia lentis - chorioretinal dystrophy - myopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1884	"" []	3185258	\N	\N	EFO	5	EFO	disease	Ectopia lentis - chorioretinal dystrophy - myopia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1884	"" []	3185259	\N	\N	EFO	5	EFO	disease	Ectopia lentis - chorioretinal dystrophy - myopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1884	"" []	4392842	\N	\N	EFO	6	EFO	disposition	Ectopia lentis - chorioretinal dystrophy - myopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1884	"" []	5411478	\N	\N	EFO	7	EFO	material property	Ectopia lentis - chorioretinal dystrophy - myopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1884	"" []	6148766	\N	\N	EFO	8	EFO	experimental factor	Ectopia lentis - chorioretinal dystrophy - myopia
Orphanet:1885	\N	\N	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	74261	\N	\N	EFO	0	EFO	Isolated ectopia lentis	Isolated ectopia lentis
Orphanet:284993	Orphanet:1885	\N	"" []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	216036	\N	\N	EFO	1	EFO	Marfan and Marfan-related disorder	Isolated ectopia lentis
Orphanet:98653	Orphanet:1885	\N	"" []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	216037	\N	\N	EFO	1	EFO	Lens position anomaly	Isolated ectopia lentis
Orphanet:271870	Orphanet:284993	\N	"" []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	570349	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Isolated ectopia lentis
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	570350	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Isolated ectopia lentis
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	1152315	\N	\N	EFO	3	EFO	genetic disorder	Isolated ectopia lentis
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	1152316	\N	\N	EFO	3	EFO	Rare genetic eye disease	Isolated ectopia lentis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	3185261	\N	\N	EFO	5	EFO	disease	Isolated ectopia lentis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	2034782	\N	\N	EFO	4	EFO	genetic disorder	Isolated ectopia lentis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	2034783	\N	\N	EFO	4	EFO	eye disease	Isolated ectopia lentis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	4133430	\N	\N	EFO	6	EFO	disposition	Isolated ectopia lentis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	3185262	\N	\N	EFO	5	EFO	disease	Isolated ectopia lentis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	5181832	\N	\N	EFO	7	EFO	material property	Isolated ectopia lentis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1885	"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." []	5997214	\N	\N	EFO	8	EFO	experimental factor	Isolated ectopia lentis
Orphanet:189	\N	\N	"" []	Orphanet:189	"" []	74262	\N	\N	EFO	0	EFO	Hidrotic ectodermal dysplasia	Hidrotic ectodermal dysplasia
Orphanet:79373	Orphanet:189	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:189	"" []	216038	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Hidrotic ectodermal dysplasia
Orphanet:98352	Orphanet:189	\N	"" []	Orphanet:189	"" []	216039	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Hidrotic ectodermal dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:189	"" []	570351	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Hidrotic ectodermal dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:189	"" []	570352	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Hidrotic ectodermal dysplasia
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:189	"" []	570353	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Hidrotic ectodermal dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:189	"" []	1152317	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hidrotic ectodermal dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:189	"" []	1152318	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hidrotic ectodermal dysplasia
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:189	"" []	1152319	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Hidrotic ectodermal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:189	"" []	2034784	\N	\N	EFO	4	EFO	genetic disorder	Hidrotic ectodermal dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:189	"" []	5411481	\N	\N	EFO	7	EFO	genetic disorder	Hidrotic ectodermal dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:189	"" []	5411482	\N	\N	EFO	7	EFO	skin disease	Hidrotic ectodermal dysplasia
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:189	"" []	2034787	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Hidrotic ectodermal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:189	"" []	5817527	\N	\N	EFO	8	EFO	disease	Hidrotic ectodermal dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:189	"" []	5817528	\N	\N	EFO	8	EFO	disease	Hidrotic ectodermal dysplasia
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:189	"" []	3185265	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Hidrotic ectodermal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:189	"" []	6409898	\N	\N	EFO	9	EFO	disposition	Hidrotic ectodermal dysplasia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:189	"" []	4392845	\N	\N	EFO	6	EFO	Rare genetic skin disease	Hidrotic ectodermal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:189	"" []	6807746	\N	\N	EFO	10	EFO	material property	Hidrotic ectodermal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:189	"" []	7048575	\N	\N	EFO	11	EFO	experimental factor	Hidrotic ectodermal dysplasia
Orphanet:1891	\N	\N	"" []	Orphanet:1891	"" []	74263	\N	\N	EFO	0	EFO	Intellectual disability - spasticity - ectrodactyly	Intellectual disability - spasticity - ectrodactyly
Orphanet:183763	Orphanet:1891	\N	"" []	Orphanet:1891	"" []	216040	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - spasticity - ectrodactyly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1891	"" []	570354	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - spasticity - ectrodactyly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1891	"" []	1152320	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - spasticity - ectrodactyly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1891	"" []	2034788	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - spasticity - ectrodactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1891	"" []	3185266	\N	\N	EFO	5	EFO	disease	Intellectual disability - spasticity - ectrodactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1891	"" []	4392846	\N	\N	EFO	6	EFO	disposition	Intellectual disability - spasticity - ectrodactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1891	"" []	5411483	\N	\N	EFO	7	EFO	material property	Intellectual disability - spasticity - ectrodactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1891	"" []	6148768	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability - spasticity - ectrodactyly
Orphanet:1892	\N	\N	"" []	Orphanet:1892	"" []	74264	\N	\N	EFO	0	EFO	Ectrodactyly - polydactyly	Ectrodactyly - polydactyly
Orphanet:294959	Orphanet:1892	\N	"" []	Orphanet:1892	"" []	216041	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Ectrodactyly - polydactyly
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:1892	"" []	570355	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Ectrodactyly - polydactyly
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:1892	"" []	570356	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Ectrodactyly - polydactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1892	"" []	1152321	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Ectrodactyly - polydactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1892	"" []	1152322	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Ectrodactyly - polydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1892	"" []	2034789	\N	\N	EFO	4	EFO	Rare genetic bone disease	Ectrodactyly - polydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1892	"" []	2034790	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Ectrodactyly - polydactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1892	"" []	2034791	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ectrodactyly - polydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1892	"" []	3185267	\N	\N	EFO	5	EFO	genetic disorder	Ectrodactyly - polydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1892	"" []	3185268	\N	\N	EFO	5	EFO	bone disease	Ectrodactyly - polydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1892	"" []	3185269	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ectrodactyly - polydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1892	"" []	4392849	\N	\N	EFO	6	EFO	genetic disorder	Ectrodactyly - polydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1892	"" []	5181833	\N	\N	EFO	7	EFO	disease	Ectrodactyly - polydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1892	"" []	4392848	\N	\N	EFO	6	EFO	skeletal system disease	Ectrodactyly - polydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1892	"" []	5997215	\N	\N	EFO	8	EFO	disposition	Ectrodactyly - polydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1892	"" []	5411485	\N	\N	EFO	7	EFO	disease	Ectrodactyly - polydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1892	"" []	6550715	\N	\N	EFO	9	EFO	material property	Ectrodactyly - polydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1892	"" []	6889091	\N	\N	EFO	10	EFO	experimental factor	Ectrodactyly - polydactyly
Orphanet:189439	\N	\N	"Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." []	Orphanet:189439	"Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." []	74265	\N	\N	EFO	0	EFO	Primary pigmented nodular adrenocortical disease	Primary pigmented nodular adrenocortical disease
Orphanet:183637	Orphanet:189439	\N	"" []	Orphanet:189439	"Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." []	216042	\N	\N	EFO	1	EFO	Rare genetic adrenal disease	Primary pigmented nodular adrenocortical disease
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:189439	"Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." []	570357	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Primary pigmented nodular adrenocortical disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:189439	"Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." []	1152323	\N	\N	EFO	3	EFO	genetic disorder	Primary pigmented nodular adrenocortical disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:189439	"Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." []	1152324	\N	\N	EFO	3	EFO	endocrine system disease	Primary pigmented nodular adrenocortical disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:189439	"Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." []	2034792	\N	\N	EFO	4	EFO	disease	Primary pigmented nodular adrenocortical disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:189439	"Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." []	2034793	\N	\N	EFO	4	EFO	disease	Primary pigmented nodular adrenocortical disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:189439	"Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." []	3185271	\N	\N	EFO	5	EFO	disposition	Primary pigmented nodular adrenocortical disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:189439	"Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." []	4392850	\N	\N	EFO	6	EFO	material property	Primary pigmented nodular adrenocortical disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:189439	"Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." []	5411486	\N	\N	EFO	7	EFO	experimental factor	Primary pigmented nodular adrenocortical disease
Orphanet:189466	\N	\N	"" []	Orphanet:189466	"" []	74266	\N	\N	EFO	0	EFO	Familial isolated hypoparathyroidism due to impaired PTH secretion	Familial isolated hypoparathyroidism due to impaired PTH secretion
Orphanet:2238	Orphanet:189466	\N	"" []	Orphanet:189466	"" []	216043	\N	\N	EFO	1	EFO	Familial isolated hypoparathyroidism	Familial isolated hypoparathyroidism due to impaired PTH secretion
Orphanet:208593	Orphanet:2238	\N	"" []	Orphanet:189466	"" []	570358	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Familial isolated hypoparathyroidism due to impaired PTH secretion
Orphanet:98712	Orphanet:2238	\N	"" []	Orphanet:189466	"" []	570359	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Familial isolated hypoparathyroidism due to impaired PTH secretion
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:189466	"" []	1152325	\N	\N	EFO	3	EFO	parathyroid disease	Familial isolated hypoparathyroidism due to impaired PTH secretion
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:189466	"" []	1152326	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Familial isolated hypoparathyroidism due to impaired PTH secretion
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:189466	"" []	1152327	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Familial isolated hypoparathyroidism due to impaired PTH secretion
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:189466	"" []	2034794	\N	\N	EFO	4	EFO	calcium metabolic disease	Familial isolated hypoparathyroidism due to impaired PTH secretion
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:189466	"" []	2034795	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Familial isolated hypoparathyroidism due to impaired PTH secretion
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:189466	"" []	2034796	\N	\N	EFO	4	EFO	Rare genetic eye disease	Familial isolated hypoparathyroidism due to impaired PTH secretion
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:189466	"" []	3185272	\N	\N	EFO	5	EFO	metabolic disease	Familial isolated hypoparathyroidism due to impaired PTH secretion
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:189466	"" []	3185273	\N	\N	EFO	5	EFO	genetic disorder	Familial isolated hypoparathyroidism due to impaired PTH secretion
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:189466	"" []	3185274	\N	\N	EFO	5	EFO	endocrine system disease	Familial isolated hypoparathyroidism due to impaired PTH secretion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:189466	"" []	3185275	\N	\N	EFO	5	EFO	genetic disorder	Familial isolated hypoparathyroidism due to impaired PTH secretion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:189466	"" []	3185276	\N	\N	EFO	5	EFO	eye disease	Familial isolated hypoparathyroidism due to impaired PTH secretion
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:189466	"" []	4392851	\N	\N	EFO	6	EFO	disease	Familial isolated hypoparathyroidism due to impaired PTH secretion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:189466	"" []	4392852	\N	\N	EFO	6	EFO	disease	Familial isolated hypoparathyroidism due to impaired PTH secretion
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:189466	"" []	4392853	\N	\N	EFO	6	EFO	disease	Familial isolated hypoparathyroidism due to impaired PTH secretion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:189466	"" []	4392854	\N	\N	EFO	6	EFO	disease	Familial isolated hypoparathyroidism due to impaired PTH secretion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:189466	"" []	5411487	\N	\N	EFO	7	EFO	disposition	Familial isolated hypoparathyroidism due to impaired PTH secretion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:189466	"" []	6148770	\N	\N	EFO	8	EFO	material property	Familial isolated hypoparathyroidism due to impaired PTH secretion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:189466	"" []	6632374	\N	\N	EFO	9	EFO	experimental factor	Familial isolated hypoparathyroidism due to impaired PTH secretion
Orphanet:1896	\N	\N	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	74267	\N	\N	EFO	0	EFO	EEC syndrome	EEC syndrome
Orphanet:156237	Orphanet:1896	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	216044	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	EEC syndrome
Orphanet:404574	Orphanet:1896	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	216045	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	EEC syndrome
Orphanet:93547	Orphanet:1896	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	216046	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	EEC syndrome
Orphanet:98569	Orphanet:1896	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	216047	\N	\N	EFO	1	EFO	Secondary entropion	EEC syndrome
Orphanet:98609	Orphanet:1896	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	216048	\N	\N	EFO	1	EFO	EEC syndrome and related syndrome	EEC syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	570360	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	EEC syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	570361	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	EEC syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	570362	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	EEC syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	570363	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	EEC syndrome
Orphanet:98568	Orphanet:98569	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	570364	\N	\N	EFO	2	EFO	Congenital entropion	EEC syndrome
Orphanet:79373	Orphanet:98609	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	570365	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	EEC syndrome
Orphanet:98608	Orphanet:98609	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	570366	\N	\N	EFO	2	EFO	Anomaly of the secretory and excretory apparatus of the lacrimal system	EEC syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	1152328	\N	\N	EFO	3	EFO	Genetic head and neck malformation	EEC syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	1152329	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	EEC syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	1152330	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	EEC syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	1152331	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	EEC syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	1152332	\N	\N	EFO	3	EFO	Rare genetic renal disease	EEC syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	1152333	\N	\N	EFO	3	EFO	Eyelids malposition disorder	EEC syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	1152334	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	EEC syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	1152335	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	EEC syndrome
Orphanet:98602	Orphanet:98608	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	1152336	\N	\N	EFO	3	EFO	Rare lacrimal system disease	EEC syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	2034797	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	EEC syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	2034798	\N	\N	EFO	4	EFO	Rare genetic bone disease	EEC syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	2034799	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	EEC syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	2034800	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	EEC syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	4392856	\N	\N	EFO	6	EFO	genetic disorder	EEC syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	2034802	\N	\N	EFO	4	EFO	genetic disorder	EEC syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	2034803	\N	\N	EFO	4	EFO	Rare palpebral disease	EEC syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	2034804	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	EEC syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	2034805	\N	\N	EFO	4	EFO	Rare genetic skin disease	EEC syndrome
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	2034806	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	EEC syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	3185278	\N	\N	EFO	5	EFO	genetic disorder	EEC syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	3185279	\N	\N	EFO	5	EFO	bone disease	EEC syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	3185280	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	EEC syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	5997217	\N	\N	EFO	8	EFO	disease	EEC syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	3185282	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	EEC syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	3185283	\N	\N	EFO	5	EFO	genetic disorder	EEC syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	3185284	\N	\N	EFO	5	EFO	skin disease	EEC syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	4392858	\N	\N	EFO	6	EFO	Rare genetic eye disease	EEC syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	4392855	\N	\N	EFO	6	EFO	skeletal system disease	EEC syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	6409899	\N	\N	EFO	9	EFO	disposition	EEC syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	4392859	\N	\N	EFO	6	EFO	disease	EEC syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	5181835	\N	\N	EFO	7	EFO	genetic disorder	EEC syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	5181836	\N	\N	EFO	7	EFO	eye disease	EEC syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	5411488	\N	\N	EFO	7	EFO	disease	EEC syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	6807747	\N	\N	EFO	10	EFO	material property	EEC syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	5997218	\N	\N	EFO	8	EFO	disease	EEC syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1896	"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." []	7048576	\N	\N	EFO	11	EFO	experimental factor	EEC syndrome
Orphanet:1897	\N	\N	"" []	Orphanet:1897	"" []	74268	\N	\N	EFO	0	EFO	EEM syndrome	EEM syndrome
Orphanet:404574	Orphanet:1897	\N	"" []	Orphanet:1897	"" []	216049	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	EEM syndrome
Orphanet:79373	Orphanet:1897	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1897	"" []	216050	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	EEM syndrome
Orphanet:98664	Orphanet:1897	\N	"" []	Orphanet:1897	"" []	216051	\N	\N	EFO	1	EFO	Genetic macular dystrophy	EEM syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:1897	"" []	570367	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	EEM syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:1897	"" []	570368	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	EEM syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1897	"" []	570369	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	EEM syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1897	"" []	570370	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	EEM syndrome
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:1897	"" []	570371	\N	\N	EFO	2	EFO	Retinal dystrophy	EEM syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1897	"" []	1152337	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	EEM syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1897	"" []	1152338	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	EEM syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1897	"" []	1152339	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	EEM syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1897	"" []	1152340	\N	\N	EFO	3	EFO	Rare genetic skin disease	EEM syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1897	"" []	1152341	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	EEM syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1897	"" []	2034807	\N	\N	EFO	4	EFO	Rare genetic bone disease	EEM syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1897	"" []	2034808	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	EEM syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1897	"" []	2034809	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	EEM syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1897	"" []	4392863	\N	\N	EFO	6	EFO	genetic disorder	EEM syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1897	"" []	2034811	\N	\N	EFO	4	EFO	genetic disorder	EEM syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1897	"" []	2034812	\N	\N	EFO	4	EFO	skin disease	EEM syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1897	"" []	2034813	\N	\N	EFO	4	EFO	Rare genetic eye disease	EEM syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1897	"" []	3185286	\N	\N	EFO	5	EFO	genetic disorder	EEM syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1897	"" []	3185287	\N	\N	EFO	5	EFO	bone disease	EEM syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1897	"" []	3185288	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	EEM syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1897	"" []	5059690	\N	\N	EFO	7	EFO	disease	EEM syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1897	"" []	3185291	\N	\N	EFO	5	EFO	disease	EEM syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1897	"" []	3185292	\N	\N	EFO	5	EFO	genetic disorder	EEM syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1897	"" []	3185293	\N	\N	EFO	5	EFO	eye disease	EEM syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1897	"" []	4392862	\N	\N	EFO	6	EFO	skeletal system disease	EEM syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1897	"" []	5876888	\N	\N	EFO	8	EFO	disposition	EEM syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1897	"" []	4392865	\N	\N	EFO	6	EFO	disease	EEM syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1897	"" []	5411491	\N	\N	EFO	7	EFO	disease	EEM syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1897	"" []	6470097	\N	\N	EFO	9	EFO	material property	EEM syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1897	"" []	6848354	\N	\N	EFO	10	EFO	experimental factor	EEM syndrome
Orphanet:1899	\N	\N	"" []	Orphanet:1899	"" []	74269	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, arthrochalasic type	Ehlers-Danlos syndrome, arthrochalasic type
Orphanet:98249	Orphanet:1899	\N	"" []	Orphanet:1899	"" []	216052	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, arthrochalasic type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:1899	"" []	570372	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, arthrochalasic type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:1899	"" []	570373	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, arthrochalasic type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:1899	"" []	570374	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, arthrochalasic type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:1899	"" []	570375	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, arthrochalasic type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1899	"" []	1152342	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, arthrochalasic type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:1899	"" []	1152343	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, arthrochalasic type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:1899	"" []	1152344	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, arthrochalasic type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1899	"" []	1152345	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, arthrochalasic type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1899	"" []	2034814	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, arthrochalasic type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:1899	"" []	2034815	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, arthrochalasic type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1899	"" []	4392866	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, arthrochalasic type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1899	"" []	3185295	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, arthrochalasic type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1899	"" []	3185296	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, arthrochalasic type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1899	"" []	5059691	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, arthrochalasic type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1899	"" []	4392867	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, arthrochalasic type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1899	"" []	5876889	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, arthrochalasic type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1899	"" []	6470098	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, arthrochalasic type
Orphanet:19	\N	\N	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	74270	\N	\N	EFO	0	EFO	2-hydroxyglutaric aciduria	2-hydroxyglutaric aciduria
Orphanet:68385	Orphanet:19	\N	"" []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	216053	\N	\N	EFO	1	EFO	Neurometabolic disease	2-hydroxyglutaric aciduria
Orphanet:79158	Orphanet:19	\N	"" []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	216054	\N	\N	EFO	1	EFO	Cerebral organic aciduria	2-hydroxyglutaric aciduria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	570376	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	2-hydroxyglutaric aciduria
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	570377	\N	\N	EFO	2	EFO	Organic aciduria	2-hydroxyglutaric aciduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	1152346	\N	\N	EFO	3	EFO	genetic disorder	2-hydroxyglutaric aciduria
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	1152347	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	2-hydroxyglutaric aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	4392870	\N	\N	EFO	6	EFO	disease	2-hydroxyglutaric aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	2034818	\N	\N	EFO	4	EFO	Inborn errors of metabolism	2-hydroxyglutaric aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	5059692	\N	\N	EFO	7	EFO	disposition	2-hydroxyglutaric aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	3185299	\N	\N	EFO	5	EFO	genetic disorder	2-hydroxyglutaric aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	3185300	\N	\N	EFO	5	EFO	metabolic disease	2-hydroxyglutaric aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	5876890	\N	\N	EFO	8	EFO	material property	2-hydroxyglutaric aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	4392871	\N	\N	EFO	6	EFO	disease	2-hydroxyglutaric aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:19	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	6470099	\N	\N	EFO	9	EFO	experimental factor	2-hydroxyglutaric aciduria
Orphanet:190	\N	\N	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	74271	\N	\N	EFO	0	EFO	Coats disease	Coats disease
Orphanet:98637	Orphanet:190	\N	"" []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	216055	\N	\N	EFO	1	EFO	Secondary glaucoma due to a proliferation and differentiation anomaly	Coats disease
Orphanet:98669	Orphanet:190	\N	"" []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	216056	\N	\N	EFO	1	EFO	Congenital vitreoretinal dysplasia	Coats disease
Orphanet:98631	Orphanet:98637	\N	"" []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	570378	\N	\N	EFO	2	EFO	Secondary dysgenetic glaucoma	Coats disease
Orphanet:98668	Orphanet:98669	\N	"" []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	570379	\N	\N	EFO	2	EFO	Vitreoretinopathy	Coats disease
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	1152348	\N	\N	EFO	3	EFO	Hereditary glaucoma	Coats disease
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	1152349	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Coats disease
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	2034819	\N	\N	EFO	4	EFO	Non-syndromic developmental defect of the eye	Coats disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	2034820	\N	\N	EFO	4	EFO	Rare genetic eye disease	Coats disease
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	3185301	\N	\N	EFO	5	EFO	Genetic developmental defect of the eye	Coats disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	5411495	\N	\N	EFO	7	EFO	genetic disorder	Coats disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	5411496	\N	\N	EFO	7	EFO	eye disease	Coats disease
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	4392872	\N	\N	EFO	6	EFO	Rare genetic eye disease	Coats disease
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	4392873	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Coats disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	5876891	\N	\N	EFO	8	EFO	disease	Coats disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	5876892	\N	\N	EFO	8	EFO	disease	Coats disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	5411497	\N	\N	EFO	7	EFO	genetic disorder	Coats disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	6470100	\N	\N	EFO	9	EFO	disposition	Coats disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	6848355	\N	\N	EFO	10	EFO	material property	Coats disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:190	"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." []	7068404	\N	\N	EFO	11	EFO	experimental factor	Coats disease
Orphanet:1900	\N	\N	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	74272	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, kyphoscoliotic type	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:98249	Orphanet:1900	\N	"" []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	216057	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:98702	Orphanet:1900	\N	"" []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	216058	\N	\N	EFO	1	EFO	Connective tissue disease with eye involvement	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	570380	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	570381	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	570382	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	570383	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	570384	\N	\N	EFO	2	EFO	connective tissue disease	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:101435	Orphanet:98702	\N	"" []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	570385	\N	\N	EFO	2	EFO	Rare genetic eye disease	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	1152350	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	1152351	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	1152352	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	1152353	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	1152354	\N	\N	EFO	3	EFO	skeletal system disease	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	1152355	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	1152356	\N	\N	EFO	3	EFO	eye disease	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	2034821	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	2034822	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	4392876	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	2034824	\N	\N	EFO	4	EFO	disease	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	2034825	\N	\N	EFO	4	EFO	disease	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	3185305	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	3185306	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, kyphoscoliotic type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	5059693	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	4392877	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, kyphoscoliotic type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	5876893	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, kyphoscoliotic type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1900	"Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." []	6470101	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:1901	\N	\N	"" []	Orphanet:1901	"" []	74273	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, dermatosparaxis type	Ehlers-Danlos syndrome, dermatosparaxis type
Orphanet:98249	Orphanet:1901	\N	"" []	Orphanet:1901	"" []	216059	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, dermatosparaxis type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:1901	"" []	570386	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, dermatosparaxis type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:1901	"" []	570387	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, dermatosparaxis type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:1901	"" []	570388	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, dermatosparaxis type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:1901	"" []	570389	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, dermatosparaxis type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1901	"" []	1152357	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, dermatosparaxis type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:1901	"" []	1152358	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, dermatosparaxis type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:1901	"" []	1152359	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, dermatosparaxis type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1901	"" []	1152360	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, dermatosparaxis type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1901	"" []	2034826	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, dermatosparaxis type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:1901	"" []	2034827	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, dermatosparaxis type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1901	"" []	4392879	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, dermatosparaxis type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1901	"" []	3185309	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, dermatosparaxis type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1901	"" []	3185310	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, dermatosparaxis type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1901	"" []	5059694	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, dermatosparaxis type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1901	"" []	4392880	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, dermatosparaxis type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1901	"" []	5876894	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, dermatosparaxis type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1901	"" []	6470102	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, dermatosparaxis type
Orphanet:191	\N	\N	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	74274	\N	\N	EFO	0	EFO	Cockayne syndrome	Cockayne syndrome
Orphanet:139027	Orphanet:191	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	216060	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Cockayne syndrome
Orphanet:183422	Orphanet:191	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	216061	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Cockayne syndrome
Orphanet:183500	Orphanet:191	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	216062	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Cockayne syndrome
Orphanet:183763	Orphanet:191	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	216063	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cockayne syndrome
Orphanet:363245	Orphanet:191	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	216064	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Cockayne syndrome
Orphanet:79389	Orphanet:191	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	216065	\N	\N	EFO	1	EFO	Premature aging	Cockayne syndrome
Orphanet:90642	Orphanet:191	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	216066	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Cockayne syndrome
Orphanet:98661	Orphanet:191	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	216067	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Cockayne syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	570390	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Cockayne syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	570391	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Cockayne syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	570392	\N	\N	EFO	2	EFO	neurodegenerative disease	Cockayne syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	570393	\N	\N	EFO	2	EFO	brain disease	Cockayne syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	570394	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Cockayne syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	570395	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cockayne syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	570396	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Cockayne syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	570397	\N	\N	EFO	2	EFO	Rare genetic skin disease	Cockayne syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	570398	\N	\N	EFO	2	EFO	Rare genetic deafness	Cockayne syndrome
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	570399	\N	\N	EFO	2	EFO	Retinal dystrophy	Cockayne syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	1152361	\N	\N	EFO	3	EFO	genetic disorder	Cockayne syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	1152362	\N	\N	EFO	3	EFO	genetic disorder	Cockayne syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	1152363	\N	\N	EFO	3	EFO	nervous system disease	Cockayne syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	1152364	\N	\N	EFO	3	EFO	nervous system disease	Cockayne syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	2034831	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	1152366	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cockayne syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	1152367	\N	\N	EFO	3	EFO	genetic disorder	Cockayne syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	1152368	\N	\N	EFO	3	EFO	skin disease	Cockayne syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	1152369	\N	\N	EFO	3	EFO	genetic disorder	Cockayne syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	1152370	\N	\N	EFO	3	EFO	auditory system disease	Cockayne syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	1152371	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Cockayne syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	4392884	\N	\N	EFO	6	EFO	disease	Cockayne syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	4392883	\N	\N	EFO	6	EFO	disease	Cockayne syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	2034832	\N	\N	EFO	4	EFO	disease	Cockayne syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	2034833	\N	\N	EFO	4	EFO	sensory system disease	Cockayne syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	2034834	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cockayne syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	5059695	\N	\N	EFO	7	EFO	disposition	Cockayne syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	3185313	\N	\N	EFO	5	EFO	nervous system disease	Cockayne syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	3185314	\N	\N	EFO	5	EFO	genetic disorder	Cockayne syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	3185315	\N	\N	EFO	5	EFO	eye disease	Cockayne syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	5876895	\N	\N	EFO	8	EFO	material property	Cockayne syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	4392885	\N	\N	EFO	6	EFO	disease	Cockayne syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:191	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	6470103	\N	\N	EFO	9	EFO	experimental factor	Cockayne syndrome
Orphanet:192	\N	\N	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	74275	\N	\N	EFO	0	EFO	Coffin-Lowry syndrome	Coffin-Lowry syndrome
Orphanet:240371	Orphanet:192	\N	"" []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	216068	\N	\N	EFO	1	EFO	Syndromic obesity	Coffin-Lowry syndrome
Orphanet:98464	Orphanet:192	\N	"" []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	216069	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Coffin-Lowry syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	570400	\N	\N	EFO	2	EFO	Genetic obesity	Coffin-Lowry syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	570401	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Coffin-Lowry syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	1152372	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Coffin-Lowry syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	1152373	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Coffin-Lowry syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	1152374	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Coffin-Lowry syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	2034835	\N	\N	EFO	4	EFO	genetic disorder	Coffin-Lowry syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	2034836	\N	\N	EFO	4	EFO	endocrine system disease	Coffin-Lowry syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	2034837	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Coffin-Lowry syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	2034838	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Coffin-Lowry syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	4392887	\N	\N	EFO	6	EFO	disease	Coffin-Lowry syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	3185317	\N	\N	EFO	5	EFO	disease	Coffin-Lowry syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	3185318	\N	\N	EFO	5	EFO	genetic disorder	Coffin-Lowry syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	3185319	\N	\N	EFO	5	EFO	genetic disorder	Coffin-Lowry syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	5181842	\N	\N	EFO	7	EFO	disposition	Coffin-Lowry syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	5997224	\N	\N	EFO	8	EFO	material property	Coffin-Lowry syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:192	"Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." []	6550718	\N	\N	EFO	9	EFO	experimental factor	Coffin-Lowry syndrome
Orphanet:1927	\N	\N	"" []	Orphanet:1927	"" []	74276	\N	\N	EFO	0	EFO	Emery-Nelson syndrome	Emery-Nelson syndrome
Orphanet:404577	Orphanet:1927	\N	"" []	Orphanet:1927	"" []	216070	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Emery-Nelson syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1927	"" []	570402	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Emery-Nelson syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1927	"" []	1152375	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Emery-Nelson syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1927	"" []	2034839	\N	\N	EFO	4	EFO	genetic disorder	Emery-Nelson syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1927	"" []	3185320	\N	\N	EFO	5	EFO	disease	Emery-Nelson syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1927	"" []	4392888	\N	\N	EFO	6	EFO	disposition	Emery-Nelson syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1927	"" []	5411503	\N	\N	EFO	7	EFO	material property	Emery-Nelson syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1927	"" []	6148775	\N	\N	EFO	8	EFO	experimental factor	Emery-Nelson syndrome
Orphanet:1928	\N	\N	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	74277	\N	\N	EFO	0	EFO	Congenital lobar emphysema	Congenital lobar emphysema
Orphanet:108993	Orphanet:1928	\N	"" []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	216071	\N	\N	EFO	1	EFO	Non-syndromic respiratory or mediastinal malformation	Congenital lobar emphysema
Orphanet:183622	Orphanet:1928	\N	"" []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	216072	\N	\N	EFO	1	EFO	Genetic respiratory malformation	Congenital lobar emphysema
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	570403	\N	\N	EFO	2	EFO	Genetic respiratory or mediastinal malformation	Congenital lobar emphysema
Orphanet:156610	Orphanet:183622	\N	"" []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	570404	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Congenital lobar emphysema
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	1152376	\N	\N	EFO	3	EFO	respiratory system disease	Congenital lobar emphysema
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	1152377	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital lobar emphysema
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	1152378	\N	\N	EFO	3	EFO	genetic disorder	Congenital lobar emphysema
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	1152379	\N	\N	EFO	3	EFO	respiratory system disease	Congenital lobar emphysema
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	2034840	\N	\N	EFO	4	EFO	disease	Congenital lobar emphysema
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	2034841	\N	\N	EFO	4	EFO	genetic disorder	Congenital lobar emphysema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	3185322	\N	\N	EFO	5	EFO	disease	Congenital lobar emphysema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	4133437	\N	\N	EFO	6	EFO	disposition	Congenital lobar emphysema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	5181843	\N	\N	EFO	7	EFO	material property	Congenital lobar emphysema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1928	"Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." []	5997225	\N	\N	EFO	8	EFO	experimental factor	Congenital lobar emphysema
Orphanet:193	\N	\N	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	74278	\N	\N	EFO	0	EFO	Cohen syndrome	Cohen syndrome
Orphanet:102283	Orphanet:193	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	216073	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cohen syndrome
Orphanet:183763	Orphanet:193	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	216074	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cohen syndrome
Orphanet:240371	Orphanet:193	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	216075	\N	\N	EFO	1	EFO	Syndromic obesity	Cohen syndrome
Orphanet:331184	Orphanet:193	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	216076	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Cohen syndrome
Orphanet:98620	Orphanet:193	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	216077	\N	\N	EFO	1	EFO	Syndromic myopia	Cohen syndrome
Orphanet:98661	Orphanet:193	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	216078	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Cohen syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	570405	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cohen syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	570406	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cohen syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	570407	\N	\N	EFO	2	EFO	Genetic obesity	Cohen syndrome
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	570408	\N	\N	EFO	2	EFO	Constitutional neutropenia	Cohen syndrome
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	570409	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	Cohen syndrome
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	570410	\N	\N	EFO	2	EFO	Retinal dystrophy	Cohen syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	1152380	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cohen syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	1152381	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cohen syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	1152382	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Cohen syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	1152383	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Cohen syndrome
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	1152384	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Cohen syndrome
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	1152385	\N	\N	EFO	3	EFO	Rare genetic eye disease	Cohen syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	1152386	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Cohen syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	3185325	\N	\N	EFO	5	EFO	genetic disorder	Cohen syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	2034844	\N	\N	EFO	4	EFO	genetic disorder	Cohen syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	2034845	\N	\N	EFO	4	EFO	genetic disorder	Cohen syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	2034846	\N	\N	EFO	4	EFO	endocrine system disease	Cohen syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	2034847	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cohen syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	2034848	\N	\N	EFO	4	EFO	Primary immunodeficiency	Cohen syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	3185328	\N	\N	EFO	5	EFO	genetic disorder	Cohen syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	3185329	\N	\N	EFO	5	EFO	eye disease	Cohen syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	2034851	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cohen syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	5411506	\N	\N	EFO	7	EFO	disease	Cohen syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	3185324	\N	\N	EFO	5	EFO	disease	Cohen syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	3185326	\N	\N	EFO	5	EFO	Rare genetic immune disease	Cohen syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	4133439	\N	\N	EFO	6	EFO	disease	Cohen syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	5876896	\N	\N	EFO	8	EFO	disposition	Cohen syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	4392891	\N	\N	EFO	6	EFO	genetic disorder	Cohen syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	4392892	\N	\N	EFO	6	EFO	immune system disease	Cohen syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	6470104	\N	\N	EFO	9	EFO	material property	Cohen syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	5411507	\N	\N	EFO	7	EFO	disease	Cohen syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:193	"Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." []	6848356	\N	\N	EFO	10	EFO	experimental factor	Cohen syndrome
Orphanet:1930	\N	\N	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	Orphanet:1930	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	74279	\N	\N	EFO	0	EFO	Herpetic encephalitis	Herpetic encephalitis
Orphanet:183710	Orphanet:1930	\N	"" []	Orphanet:1930	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	216079	\N	\N	EFO	1	EFO	Genetic susceptibility to infections due to particular pathogens	Herpetic encephalitis
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:1930	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	570411	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Herpetic encephalitis
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:1930	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	1152387	\N	\N	EFO	3	EFO	Primary immunodeficiency	Herpetic encephalitis
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:1930	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	2034852	\N	\N	EFO	4	EFO	Rare genetic immune disease	Herpetic encephalitis
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1930	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	3185330	\N	\N	EFO	5	EFO	genetic disorder	Herpetic encephalitis
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:1930	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	3185331	\N	\N	EFO	5	EFO	immune system disease	Herpetic encephalitis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1930	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	4392893	\N	\N	EFO	6	EFO	disease	Herpetic encephalitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1930	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	4392894	\N	\N	EFO	6	EFO	disease	Herpetic encephalitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1930	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	5411508	\N	\N	EFO	7	EFO	disposition	Herpetic encephalitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1930	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	6148777	\N	\N	EFO	8	EFO	material property	Herpetic encephalitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1930	"Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." []	6632376	\N	\N	EFO	9	EFO	experimental factor	Herpetic encephalitis
Orphanet:1931	\N	\N	"" []	Orphanet:1931	"" []	74280	\N	\N	EFO	0	EFO	Frontal encephalocele	Frontal encephalocele
Orphanet:199647	Orphanet:1931	\N	"" []	Orphanet:1931	"" []	216080	\N	\N	EFO	1	EFO	Isolated encephalocele	Frontal encephalocele
Orphanet:268817	Orphanet:199647	\N	"" []	Orphanet:1931	"" []	570412	\N	\N	EFO	2	EFO	Cephalocele	Frontal encephalocele
Orphanet:268357	Orphanet:268817	\N	"" []	Orphanet:1931	"" []	1152388	\N	\N	EFO	3	EFO	Neural tube closure defect	Frontal encephalocele
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:1931	"" []	2034853	\N	\N	EFO	4	EFO	Neural tube defect	Frontal encephalocele
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:1931	"" []	3185332	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Frontal encephalocele
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:1931	"" []	4392895	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Frontal encephalocele
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1931	"" []	5411509	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Frontal encephalocele
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1931	"" []	5411510	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Frontal encephalocele
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1931	"" []	6148778	\N	\N	EFO	8	EFO	genetic disorder	Frontal encephalocele
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1931	"" []	6148779	\N	\N	EFO	8	EFO	genetic disorder	Frontal encephalocele
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1931	"" []	6632377	\N	\N	EFO	9	EFO	disease	Frontal encephalocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1931	"" []	6925505	\N	\N	EFO	10	EFO	disposition	Frontal encephalocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1931	"" []	7099038	\N	\N	EFO	11	EFO	material property	Frontal encephalocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1931	"" []	7208291	\N	\N	EFO	12	EFO	experimental factor	Frontal encephalocele
Orphanet:1933	\N	\N	"" []	Orphanet:1933	"" []	74281	\N	\N	EFO	0	EFO	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:254803	Orphanet:1933	\N	"" []	Orphanet:1933	"" []	216081	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome, encephalomyopathic form	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:35698	Orphanet:254803	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:1933	"" []	570413	\N	\N	EFO	2	EFO	Mitochondrial DNA depletion syndrome	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:68385	Orphanet:254803	\N	"" []	Orphanet:1933	"" []	570414	\N	\N	EFO	2	EFO	Neurometabolic disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:1933	"" []	1152389	\N	\N	EFO	3	EFO	Metabolic disease with intestinal involvement	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:1933	"" []	1152390	\N	\N	EFO	3	EFO	Mitochondrial myopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:1933	"" []	1152391	\N	\N	EFO	3	EFO	Mitochondrial DNA maintenance syndrome	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:1933	"" []	1152392	\N	\N	EFO	3	EFO	Mitochondrial disease with eye involvement	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:1933	"" []	1152393	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:1933	"" []	2034854	\N	\N	EFO	4	EFO	Genetic intestinal disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:1933	"" []	2034855	\N	\N	EFO	4	EFO	Muscular lipidosis	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:1933	"" []	2034856	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:1933	"" []	2034857	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1933	"" []	6925507	\N	\N	EFO	10	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:1933	"" []	3185333	\N	\N	EFO	5	EFO	digestive system disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:1933	"" []	3185334	\N	\N	EFO	5	EFO	Rare genetic gastroenterological disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:1933	"" []	3185335	\N	\N	EFO	5	EFO	Metabolic myopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:1933	"" []	3185336	\N	\N	EFO	5	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:1933	"" []	3185337	\N	\N	EFO	5	EFO	Rare genetic eye disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1933	"" []	7008636	\N	\N	EFO	11	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1933	"" []	4392896	\N	\N	EFO	6	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1933	"" []	4392897	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:1933	"" []	4392898	\N	\N	EFO	6	EFO	Non-dystrophic myopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:1933	"" []	4392899	\N	\N	EFO	6	EFO	Mitochondrial disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1933	"" []	4392900	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1933	"" []	4392901	\N	\N	EFO	6	EFO	eye disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1933	"" []	7167530	\N	\N	EFO	12	EFO	disposition	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:1933	"" []	5411513	\N	\N	EFO	7	EFO	Genetic skeletal muscle disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:1933	"" []	5411514	\N	\N	EFO	7	EFO	Developmental anomaly of metabolic origin	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:1933	"" []	5411515	\N	\N	EFO	7	EFO	Disorder of energy metabolism	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1933	"" []	5411516	\N	\N	EFO	7	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1933	"" []	7272436	\N	\N	EFO	13	EFO	material property	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:1933	"" []	6148780	\N	\N	EFO	8	EFO	Genetic neuromuscular disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:1933	"" []	6148781	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:1933	"" []	6148782	\N	\N	EFO	8	EFO	Inborn errors of metabolism	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1933	"" []	7348679	\N	\N	EFO	14	EFO	experimental factor	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:1933	"" []	6632378	\N	\N	EFO	9	EFO	muscular disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:1933	"" []	6632379	\N	\N	EFO	9	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1933	"" []	6632380	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1933	"" []	6632381	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1933	"" []	6632382	\N	\N	EFO	9	EFO	metabolic disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1933	"" []	6925506	\N	\N	EFO	10	EFO	skeletal system disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1933	"" []	6925509	\N	\N	EFO	10	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1933	"" []	7099039	\N	\N	EFO	11	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Orphanet:1934	\N	\N	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	74282	\N	\N	EFO	0	EFO	Early infantile epileptic encephalopathy	Early infantile epileptic encephalopathy
Orphanet:182079	Orphanet:1934	\N	"" []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	216082	\N	\N	EFO	1	EFO	ARX-related epileptic encephalopathy	Early infantile epileptic encephalopathy
Orphanet:182083	Orphanet:1934	\N	"" []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	216083	\N	\N	EFO	1	EFO	Channelopathy with epilepsy	Early infantile epileptic encephalopathy
Orphanet:98257	Orphanet:1934	\N	"" []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	216084	\N	\N	EFO	1	EFO	Neonatal epilepsy syndrome	Early infantile epileptic encephalopathy
Orphanet:166472	Orphanet:182079	\N	"" []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	570415	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Early infantile epileptic encephalopathy
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	570416	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Early infantile epileptic encephalopathy
Orphanet:166463	Orphanet:98257	\N	"" []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	570417	\N	\N	EFO	2	EFO	Epilepsy syndrome	Early infantile epileptic encephalopathy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	1152394	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Early infantile epileptic encephalopathy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	1152395	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Early infantile epileptic encephalopathy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	2034859	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Early infantile epileptic encephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	3185339	\N	\N	EFO	5	EFO	genetic disorder	Early infantile epileptic encephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	4392903	\N	\N	EFO	6	EFO	disease	Early infantile epileptic encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	5411518	\N	\N	EFO	7	EFO	disposition	Early infantile epileptic encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	6148784	\N	\N	EFO	8	EFO	material property	Early infantile epileptic encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1934	"Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." []	6632383	\N	\N	EFO	9	EFO	experimental factor	Early infantile epileptic encephalopathy
Orphanet:1935	\N	\N	"" []	Orphanet:1935	"" []	74283	\N	\N	EFO	0	EFO	Early myoclonic encephalopathy	Early myoclonic encephalopathy
Orphanet:254830	Orphanet:1935	\N	"" []	Orphanet:1935	"" []	216085	\N	\N	EFO	1	EFO	Mitochondrial substrate carrier disorder	Early myoclonic encephalopathy
Orphanet:98257	Orphanet:1935	\N	"" []	Orphanet:1935	"" []	216086	\N	\N	EFO	1	EFO	Neonatal epilepsy syndrome	Early myoclonic encephalopathy
Orphanet:254827	Orphanet:254830	\N	"" []	Orphanet:1935	"" []	570418	\N	\N	EFO	2	EFO	Mitochondrial membrane transport disorder	Early myoclonic encephalopathy
Orphanet:166463	Orphanet:98257	\N	"" []	Orphanet:1935	"" []	570419	\N	\N	EFO	2	EFO	Epilepsy syndrome	Early myoclonic encephalopathy
Orphanet:68380	Orphanet:254827	\N	"" []	Orphanet:1935	"" []	1152396	\N	\N	EFO	3	EFO	Mitochondrial disease	Early myoclonic encephalopathy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:1935	"" []	1152397	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Early myoclonic encephalopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:1935	"" []	2034860	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Early myoclonic encephalopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:1935	"" []	2034861	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Early myoclonic encephalopathy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1935	"" []	2034862	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Early myoclonic encephalopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:1935	"" []	3185340	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Early myoclonic encephalopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:1935	"" []	3185341	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Early myoclonic encephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1935	"" []	3185342	\N	\N	EFO	5	EFO	genetic disorder	Early myoclonic encephalopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1935	"" []	4392904	\N	\N	EFO	6	EFO	genetic disorder	Early myoclonic encephalopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1935	"" []	4392905	\N	\N	EFO	6	EFO	genetic disorder	Early myoclonic encephalopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1935	"" []	4392906	\N	\N	EFO	6	EFO	metabolic disease	Early myoclonic encephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1935	"" []	5411519	\N	\N	EFO	7	EFO	disease	Early myoclonic encephalopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1935	"" []	5411520	\N	\N	EFO	7	EFO	disease	Early myoclonic encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1935	"" []	5997228	\N	\N	EFO	8	EFO	disposition	Early myoclonic encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1935	"" []	6550721	\N	\N	EFO	9	EFO	material property	Early myoclonic encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1935	"" []	6889092	\N	\N	EFO	10	EFO	experimental factor	Early myoclonic encephalopathy
Orphanet:194	\N	\N	"" []	Orphanet:194	"" []	74284	\N	\N	EFO	0	EFO	Ocular coloboma	Ocular coloboma
Orphanet:108985	Orphanet:194	\N	"" []	Orphanet:194	"" []	216087	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Ocular coloboma
Orphanet:98558	Orphanet:194	\N	"" []	Orphanet:194	"" []	216088	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	Ocular coloboma
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:194	"" []	570420	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Ocular coloboma
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:194	"" []	570421	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Ocular coloboma
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:194	"" []	1152398	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ocular coloboma
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:194	"" []	1152399	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ocular coloboma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:194	"" []	2034863	\N	\N	EFO	4	EFO	genetic disorder	Ocular coloboma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:194	"" []	2034864	\N	\N	EFO	4	EFO	eye disease	Ocular coloboma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:194	"" []	2034865	\N	\N	EFO	4	EFO	genetic disorder	Ocular coloboma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:194	"" []	3185343	\N	\N	EFO	5	EFO	disease	Ocular coloboma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:194	"" []	3185344	\N	\N	EFO	5	EFO	disease	Ocular coloboma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:194	"" []	4392908	\N	\N	EFO	6	EFO	disposition	Ocular coloboma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:194	"" []	5411522	\N	\N	EFO	7	EFO	material property	Ocular coloboma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:194	"" []	6148786	\N	\N	EFO	8	EFO	experimental factor	Ocular coloboma
Orphanet:1940	\N	\N	"" []	Orphanet:1940	"" []	74285	\N	\N	EFO	0	EFO	Shoulder and thorax deformity - congenital heart disease	Shoulder and thorax deformity - congenital heart disease
Orphanet:404574	Orphanet:1940	\N	"" []	Orphanet:1940	"" []	216089	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Shoulder and thorax deformity - congenital heart disease
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:1940	"" []	570422	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Shoulder and thorax deformity - congenital heart disease
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:1940	"" []	570423	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Shoulder and thorax deformity - congenital heart disease
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1940	"" []	1152400	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Shoulder and thorax deformity - congenital heart disease
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1940	"" []	1152401	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Shoulder and thorax deformity - congenital heart disease
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1940	"" []	2034866	\N	\N	EFO	4	EFO	Rare genetic bone disease	Shoulder and thorax deformity - congenital heart disease
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1940	"" []	2034867	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Shoulder and thorax deformity - congenital heart disease
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1940	"" []	2034868	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Shoulder and thorax deformity - congenital heart disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1940	"" []	3185345	\N	\N	EFO	5	EFO	genetic disorder	Shoulder and thorax deformity - congenital heart disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1940	"" []	3185346	\N	\N	EFO	5	EFO	bone disease	Shoulder and thorax deformity - congenital heart disease
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1940	"" []	3185347	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Shoulder and thorax deformity - congenital heart disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1940	"" []	4392911	\N	\N	EFO	6	EFO	genetic disorder	Shoulder and thorax deformity - congenital heart disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1940	"" []	5181845	\N	\N	EFO	7	EFO	disease	Shoulder and thorax deformity - congenital heart disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1940	"" []	4392910	\N	\N	EFO	6	EFO	skeletal system disease	Shoulder and thorax deformity - congenital heart disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1940	"" []	5997229	\N	\N	EFO	8	EFO	disposition	Shoulder and thorax deformity - congenital heart disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1940	"" []	5411524	\N	\N	EFO	7	EFO	disease	Shoulder and thorax deformity - congenital heart disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1940	"" []	6550722	\N	\N	EFO	9	EFO	material property	Shoulder and thorax deformity - congenital heart disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1940	"" []	6889093	\N	\N	EFO	10	EFO	experimental factor	Shoulder and thorax deformity - congenital heart disease
Orphanet:1941	\N	\N	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	74286	\N	\N	EFO	0	EFO	Juvenile absence epilepsy	Juvenile absence epilepsy
Orphanet:309	Orphanet:1941	\N	"" []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	216090	\N	\N	EFO	1	EFO	Familial partial epilepsy	Juvenile absence epilepsy
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	570424	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Juvenile absence epilepsy
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	570425	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Juvenile absence epilepsy
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	570426	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Juvenile absence epilepsy
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	570427	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Juvenile absence epilepsy
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	1152402	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Juvenile absence epilepsy
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	1152403	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Juvenile absence epilepsy
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	1152404	\N	\N	EFO	3	EFO	Epilepsy syndrome	Juvenile absence epilepsy
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	1152405	\N	\N	EFO	3	EFO	Epilepsy syndrome	Juvenile absence epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	3185350	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Juvenile absence epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	2034870	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Juvenile absence epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	2034871	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Juvenile absence epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	4133440	\N	\N	EFO	6	EFO	genetic disorder	Juvenile absence epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	5181846	\N	\N	EFO	7	EFO	disease	Juvenile absence epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	5997230	\N	\N	EFO	8	EFO	disposition	Juvenile absence epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	6550723	\N	\N	EFO	9	EFO	material property	Juvenile absence epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1941	"Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." []	6889094	\N	\N	EFO	10	EFO	experimental factor	Juvenile absence epilepsy
Orphanet:1942	\N	\N	"Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." []	Orphanet:1942	"Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." []	74287	\N	\N	EFO	0	EFO	Myoclonic-astastic epilepsy	Myoclonic-astastic epilepsy
Orphanet:98259	Orphanet:1942	\N	"" []	Orphanet:1942	"Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." []	216091	\N	\N	EFO	1	EFO	Childhood-onset epilepsy syndrome	Myoclonic-astastic epilepsy
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:1942	"Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." []	570428	\N	\N	EFO	2	EFO	Epilepsy syndrome	Myoclonic-astastic epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:1942	"Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." []	1152406	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Myoclonic-astastic epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1942	"Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." []	2034872	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Myoclonic-astastic epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1942	"Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." []	3185351	\N	\N	EFO	5	EFO	genetic disorder	Myoclonic-astastic epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1942	"Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." []	4392913	\N	\N	EFO	6	EFO	disease	Myoclonic-astastic epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1942	"Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." []	5411526	\N	\N	EFO	7	EFO	disposition	Myoclonic-astastic epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1942	"Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." []	6148789	\N	\N	EFO	8	EFO	material property	Myoclonic-astastic epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1942	"Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." []	6632387	\N	\N	EFO	9	EFO	experimental factor	Myoclonic-astastic epilepsy
Orphanet:1945	\N	\N	"" []	Orphanet:1945	"" []	74288	\N	\N	EFO	0	EFO	Rolandic epilepsy	Rolandic epilepsy
Orphanet:309	Orphanet:1945	\N	"" []	Orphanet:1945	"" []	216092	\N	\N	EFO	1	EFO	Familial partial epilepsy	Rolandic epilepsy
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:1945	"" []	570429	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Rolandic epilepsy
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:1945	"" []	570430	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Rolandic epilepsy
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:1945	"" []	570431	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Rolandic epilepsy
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:1945	"" []	570432	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Rolandic epilepsy
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:1945	"" []	1152407	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Rolandic epilepsy
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:1945	"" []	1152408	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Rolandic epilepsy
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:1945	"" []	1152409	\N	\N	EFO	3	EFO	Epilepsy syndrome	Rolandic epilepsy
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:1945	"" []	1152410	\N	\N	EFO	3	EFO	Epilepsy syndrome	Rolandic epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1945	"" []	3185353	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Rolandic epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:1945	"" []	2034874	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Rolandic epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:1945	"" []	2034875	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Rolandic epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1945	"" []	4133441	\N	\N	EFO	6	EFO	genetic disorder	Rolandic epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1945	"" []	5181847	\N	\N	EFO	7	EFO	disease	Rolandic epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1945	"" []	5997231	\N	\N	EFO	8	EFO	disposition	Rolandic epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1945	"" []	6550724	\N	\N	EFO	9	EFO	material property	Rolandic epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1945	"" []	6889095	\N	\N	EFO	10	EFO	experimental factor	Rolandic epilepsy
Orphanet:1946	\N	\N	"" []	Orphanet:1946	"" []	74289	\N	\N	EFO	0	EFO	Amelo-cerebro-hypohidrotic syndrome	Amelo-cerebro-hypohidrotic syndrome
Orphanet:183580	Orphanet:1946	\N	"" []	Orphanet:1946	"" []	216093	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Amelo-cerebro-hypohidrotic syndrome
Orphanet:79373	Orphanet:1946	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1946	"" []	216094	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Amelo-cerebro-hypohidrotic syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:1946	"" []	570433	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Amelo-cerebro-hypohidrotic syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1946	"" []	570434	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Amelo-cerebro-hypohidrotic syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1946	"" []	570435	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Amelo-cerebro-hypohidrotic syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1946	"" []	2034877	\N	\N	EFO	4	EFO	genetic disorder	Amelo-cerebro-hypohidrotic syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1946	"" []	1152412	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Amelo-cerebro-hypohidrotic syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1946	"" []	1152413	\N	\N	EFO	3	EFO	Rare genetic skin disease	Amelo-cerebro-hypohidrotic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1946	"" []	3000175	\N	\N	EFO	5	EFO	disease	Amelo-cerebro-hypohidrotic syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1946	"" []	2034878	\N	\N	EFO	4	EFO	genetic disorder	Amelo-cerebro-hypohidrotic syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1946	"" []	2034879	\N	\N	EFO	4	EFO	skin disease	Amelo-cerebro-hypohidrotic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1946	"" []	4133442	\N	\N	EFO	6	EFO	disposition	Amelo-cerebro-hypohidrotic syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1946	"" []	3185355	\N	\N	EFO	5	EFO	disease	Amelo-cerebro-hypohidrotic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1946	"" []	5181848	\N	\N	EFO	7	EFO	material property	Amelo-cerebro-hypohidrotic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1946	"" []	5997232	\N	\N	EFO	8	EFO	experimental factor	Amelo-cerebro-hypohidrotic syndrome
Orphanet:1947	\N	\N	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	74290	\N	\N	EFO	0	EFO	Progressive epilepsy - intellectual disability, Finnish type	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:166472	Orphanet:1947	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	216095	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:216	Orphanet:1947	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	216096	\N	\N	EFO	1	EFO	Neuronal ceroid lipofuscinosis	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:98261	Orphanet:1947	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	216097	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	570436	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	570437	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	570438	\N	\N	EFO	2	EFO	Lysosomal disease	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	570439	\N	\N	EFO	2	EFO	Neurometabolic disease	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	570440	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	570441	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	570442	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	570443	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	3185362	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Progressive epilepsy - intellectual disability, Finnish type
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	1152415	\N	\N	EFO	3	EFO	neurodegenerative disease	Progressive epilepsy - intellectual disability, Finnish type
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	1152416	\N	\N	EFO	3	EFO	brain disease	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	1152417	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	1152418	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	1152419	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	1152420	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	1152421	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	1152422	\N	\N	EFO	3	EFO	Epilepsy syndrome	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	1152423	\N	\N	EFO	3	EFO	Epilepsy syndrome	Progressive epilepsy - intellectual disability, Finnish type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	4066870	\N	\N	EFO	6	EFO	genetic disorder	Progressive epilepsy - intellectual disability, Finnish type
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	2034881	\N	\N	EFO	4	EFO	nervous system disease	Progressive epilepsy - intellectual disability, Finnish type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	2034882	\N	\N	EFO	4	EFO	nervous system disease	Progressive epilepsy - intellectual disability, Finnish type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	2034883	\N	\N	EFO	4	EFO	genetic disorder	Progressive epilepsy - intellectual disability, Finnish type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	2034884	\N	\N	EFO	4	EFO	metabolic disease	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	2034885	\N	\N	EFO	4	EFO	Retinal dystrophy	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	2034886	\N	\N	EFO	4	EFO	Rare genetic eye disease	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	2034887	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Progressive epilepsy - intellectual disability, Finnish type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	5876899	\N	\N	EFO	8	EFO	disease	Progressive epilepsy - intellectual disability, Finnish type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	3185357	\N	\N	EFO	5	EFO	disease	Progressive epilepsy - intellectual disability, Finnish type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	3185358	\N	\N	EFO	5	EFO	disease	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	3185359	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Progressive epilepsy - intellectual disability, Finnish type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	5411530	\N	\N	EFO	7	EFO	genetic disorder	Progressive epilepsy - intellectual disability, Finnish type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	5411531	\N	\N	EFO	7	EFO	eye disease	Progressive epilepsy - intellectual disability, Finnish type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	6409900	\N	\N	EFO	9	EFO	disposition	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	4392917	\N	\N	EFO	6	EFO	Rare genetic eye disease	Progressive epilepsy - intellectual disability, Finnish type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	5876900	\N	\N	EFO	8	EFO	disease	Progressive epilepsy - intellectual disability, Finnish type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	6807748	\N	\N	EFO	10	EFO	material property	Progressive epilepsy - intellectual disability, Finnish type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1947	"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." []	7048577	\N	\N	EFO	11	EFO	experimental factor	Progressive epilepsy - intellectual disability, Finnish type
Orphanet:1948	\N	\N	"" []	Orphanet:1948	"" []	74291	\N	\N	EFO	0	EFO	Epilepsy - microcephaly - skeletal dysplasia	Epilepsy - microcephaly - skeletal dysplasia
Orphanet:102283	Orphanet:1948	\N	"" []	Orphanet:1948	"" []	216098	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Epilepsy - microcephaly - skeletal dysplasia
Orphanet:183763	Orphanet:1948	\N	"" []	Orphanet:1948	"" []	216099	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Epilepsy - microcephaly - skeletal dysplasia
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1948	"" []	570444	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Epilepsy - microcephaly - skeletal dysplasia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1948	"" []	570445	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Epilepsy - microcephaly - skeletal dysplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1948	"" []	1152424	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Epilepsy - microcephaly - skeletal dysplasia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1948	"" []	1152425	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Epilepsy - microcephaly - skeletal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1948	"" []	2034888	\N	\N	EFO	4	EFO	genetic disorder	Epilepsy - microcephaly - skeletal dysplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1948	"" []	2034889	\N	\N	EFO	4	EFO	genetic disorder	Epilepsy - microcephaly - skeletal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1948	"" []	3185363	\N	\N	EFO	5	EFO	disease	Epilepsy - microcephaly - skeletal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1948	"" []	4392920	\N	\N	EFO	6	EFO	disposition	Epilepsy - microcephaly - skeletal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1948	"" []	5411532	\N	\N	EFO	7	EFO	material property	Epilepsy - microcephaly - skeletal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1948	"" []	6148792	\N	\N	EFO	8	EFO	experimental factor	Epilepsy - microcephaly - skeletal dysplasia
Orphanet:1949	\N	\N	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	74292	\N	\N	EFO	0	EFO	Benign familial neonatal seizures	Benign familial neonatal seizures
Orphanet:309	Orphanet:1949	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	216100	\N	\N	EFO	1	EFO	Familial partial epilepsy	Benign familial neonatal seizures
Orphanet:98257	Orphanet:1949	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	216101	\N	\N	EFO	1	EFO	Neonatal epilepsy syndrome	Benign familial neonatal seizures
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	570446	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Benign familial neonatal seizures
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	570447	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Benign familial neonatal seizures
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	570448	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Benign familial neonatal seizures
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	570449	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Benign familial neonatal seizures
Orphanet:166463	Orphanet:98257	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	570450	\N	\N	EFO	2	EFO	Epilepsy syndrome	Benign familial neonatal seizures
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	1152426	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Benign familial neonatal seizures
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	1152427	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Benign familial neonatal seizures
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	1152428	\N	\N	EFO	3	EFO	Epilepsy syndrome	Benign familial neonatal seizures
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	1152429	\N	\N	EFO	3	EFO	Epilepsy syndrome	Benign familial neonatal seizures
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	2034892	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Benign familial neonatal seizures
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	3000176	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Benign familial neonatal seizures
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	2034891	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Benign familial neonatal seizures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	4133443	\N	\N	EFO	6	EFO	genetic disorder	Benign familial neonatal seizures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	5181850	\N	\N	EFO	7	EFO	disease	Benign familial neonatal seizures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	5997234	\N	\N	EFO	8	EFO	disposition	Benign familial neonatal seizures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	6550726	\N	\N	EFO	9	EFO	material property	Benign familial neonatal seizures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1949	"Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." []	6889096	\N	\N	EFO	10	EFO	experimental factor	Benign familial neonatal seizures
Orphanet:195	\N	\N	"" []	Orphanet:195	"" []	74293	\N	\N	EFO	0	EFO	Cat-eye syndrome	Cat-eye syndrome
Orphanet:108987	Orphanet:195	\N	"" []	Orphanet:195	"" []	216102	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Cat-eye syndrome
Orphanet:117573	Orphanet:195	\N	"" []	Orphanet:195	"" []	216103	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Cat-eye syndrome
Orphanet:263708	Orphanet:195	\N	"" []	Orphanet:195	"" []	216104	\N	\N	EFO	1	EFO	Complex chromosomal rearrangement	Cat-eye syndrome
Orphanet:93547	Orphanet:195	\N	"" []	Orphanet:195	"" []	216105	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Cat-eye syndrome
Orphanet:98683	Orphanet:195	\N	"" []	Orphanet:195	"" []	216106	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Cat-eye syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:195	"" []	570451	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Cat-eye syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:195	"" []	570452	\N	\N	EFO	2	EFO	Anorectal malformation	Cat-eye syndrome
Orphanet:98127	Orphanet:263708	\N	"" []	Orphanet:195	"" []	570453	\N	\N	EFO	2	EFO	Autosomal anomaly	Cat-eye syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:195	"" []	570454	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Cat-eye syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:195	"" []	570455	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Cat-eye syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:195	"" []	1152431	\N	\N	EFO	3	EFO	Rare genetic eye disease	Cat-eye syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:195	"" []	1152432	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cat-eye syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:195	"" []	1152433	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Cat-eye syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:195	"" []	1152434	\N	\N	EFO	3	EFO	Chromosomal anomaly	Cat-eye syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:195	"" []	1152435	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cat-eye syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:195	"" []	1152436	\N	\N	EFO	3	EFO	Rare genetic renal disease	Cat-eye syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:195	"" []	1152437	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Cat-eye syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:195	"" []	3185368	\N	\N	EFO	5	EFO	genetic disorder	Cat-eye syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:195	"" []	3185369	\N	\N	EFO	5	EFO	eye disease	Cat-eye syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:195	"" []	3185367	\N	\N	EFO	5	EFO	genetic disorder	Cat-eye syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:195	"" []	2034896	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cat-eye syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:195	"" []	2034897	\N	\N	EFO	4	EFO	genetic disorder	Cat-eye syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:195	"" []	2034898	\N	\N	EFO	4	EFO	genetic disorder	Cat-eye syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:195	"" []	2034899	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cat-eye syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:195	"" []	4133444	\N	\N	EFO	6	EFO	disease	Cat-eye syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:195	"" []	4133445	\N	\N	EFO	6	EFO	disease	Cat-eye syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:195	"" []	5181851	\N	\N	EFO	7	EFO	disposition	Cat-eye syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:195	"" []	5997235	\N	\N	EFO	8	EFO	material property	Cat-eye syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:195	"" []	6550727	\N	\N	EFO	9	EFO	experimental factor	Cat-eye syndrome
Orphanet:1951	\N	\N	"" []	Orphanet:1951	"" []	74294	\N	\N	EFO	0	EFO	Epilepsy telangiectasia	Epilepsy telangiectasia
Orphanet:102283	Orphanet:1951	\N	"" []	Orphanet:1951	"" []	216107	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Epilepsy telangiectasia
Orphanet:166463	Orphanet:1951	\N	"" []	Orphanet:1951	"" []	216108	\N	\N	EFO	1	EFO	Epilepsy syndrome	Epilepsy telangiectasia
Orphanet:183763	Orphanet:1951	\N	"" []	Orphanet:1951	"" []	216109	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Epilepsy telangiectasia
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1951	"" []	570456	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Epilepsy telangiectasia
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:1951	"" []	570457	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Epilepsy telangiectasia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1951	"" []	570458	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Epilepsy telangiectasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1951	"" []	1152438	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Epilepsy telangiectasia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:1951	"" []	1152439	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Epilepsy telangiectasia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1951	"" []	1152440	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Epilepsy telangiectasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1951	"" []	2034900	\N	\N	EFO	4	EFO	genetic disorder	Epilepsy telangiectasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1951	"" []	2034901	\N	\N	EFO	4	EFO	genetic disorder	Epilepsy telangiectasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1951	"" []	3185370	\N	\N	EFO	5	EFO	disease	Epilepsy telangiectasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1951	"" []	4392923	\N	\N	EFO	6	EFO	disposition	Epilepsy telangiectasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1951	"" []	5411535	\N	\N	EFO	7	EFO	material property	Epilepsy telangiectasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1951	"" []	6148795	\N	\N	EFO	8	EFO	experimental factor	Epilepsy telangiectasia
Orphanet:1952	\N	\N	"" []	Orphanet:1952	"" []	74295	\N	\N	EFO	0	EFO	Pacman dysplasia	Pacman dysplasia
Orphanet:93449	Orphanet:1952	\N	"" []	Orphanet:1952	"" []	216110	\N	\N	EFO	1	EFO	Primary osteolysis	Pacman dysplasia
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:1952	"" []	570459	\N	\N	EFO	2	EFO	Primary bone dysplasia	Pacman dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1952	"" []	1152441	\N	\N	EFO	3	EFO	Rare genetic bone disease	Pacman dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1952	"" []	1152442	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Pacman dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1952	"" []	2034902	\N	\N	EFO	4	EFO	genetic disorder	Pacman dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1952	"" []	2034903	\N	\N	EFO	4	EFO	bone disease	Pacman dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1952	"" []	2034904	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pacman dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1952	"" []	4392926	\N	\N	EFO	6	EFO	disease	Pacman dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1952	"" []	3185372	\N	\N	EFO	5	EFO	skeletal system disease	Pacman dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1952	"" []	3185373	\N	\N	EFO	5	EFO	genetic disorder	Pacman dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1952	"" []	5181852	\N	\N	EFO	7	EFO	disposition	Pacman dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1952	"" []	4392925	\N	\N	EFO	6	EFO	disease	Pacman dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1952	"" []	5997236	\N	\N	EFO	8	EFO	material property	Pacman dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1952	"" []	6550728	\N	\N	EFO	9	EFO	experimental factor	Pacman dysplasia
Orphanet:1954	\N	\N	"" []	Orphanet:1954	"" []	74296	\N	\N	EFO	0	EFO	Congenital lethal erythroderma	Congenital lethal erythroderma
Orphanet:79385	Orphanet:1954	\N	"" []	Orphanet:1954	"" []	216111	\N	\N	EFO	1	EFO	Unclassified genetic skin disorder	Congenital lethal erythroderma
Orphanet:68346	Orphanet:79385	\N	"" []	Orphanet:1954	"" []	570460	\N	\N	EFO	2	EFO	Rare genetic skin disease	Congenital lethal erythroderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1954	"" []	1152443	\N	\N	EFO	3	EFO	genetic disorder	Congenital lethal erythroderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1954	"" []	1152444	\N	\N	EFO	3	EFO	skin disease	Congenital lethal erythroderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1954	"" []	2034905	\N	\N	EFO	4	EFO	disease	Congenital lethal erythroderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1954	"" []	2034906	\N	\N	EFO	4	EFO	disease	Congenital lethal erythroderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1954	"" []	3185374	\N	\N	EFO	5	EFO	disposition	Congenital lethal erythroderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1954	"" []	4392927	\N	\N	EFO	6	EFO	material property	Congenital lethal erythroderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1954	"" []	5411537	\N	\N	EFO	7	EFO	experimental factor	Congenital lethal erythroderma
Orphanet:1955	\N	\N	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	74297	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 34	Spinocerebellar ataxia type 34
Orphanet:183438	Orphanet:1955	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	216112	\N	\N	EFO	1	EFO	Genetic erythrokeratoderma	Spinocerebellar ataxia type 34
Orphanet:94145	Orphanet:1955	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	216113	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 34
Orphanet:183426	Orphanet:183438	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	570461	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Spinocerebellar ataxia type 34
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	570462	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 34
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	1152445	\N	\N	EFO	3	EFO	Rare genetic skin disease	Spinocerebellar ataxia type 34
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	1152446	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 34
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	1152447	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 34
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	1152448	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 34
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	2034907	\N	\N	EFO	4	EFO	genetic disorder	Spinocerebellar ataxia type 34
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	2034908	\N	\N	EFO	4	EFO	skin disease	Spinocerebellar ataxia type 34
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	2034909	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 34
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	2034910	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 34
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	2034911	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 34
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	6409902	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 34
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	3185376	\N	\N	EFO	5	EFO	disease	Spinocerebellar ataxia type 34
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	6148799	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 34
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	3185378	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 34
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	3185379	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 34
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	6778625	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 34
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	4392930	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 34
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	4392931	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 34
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	4392932	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 34
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	7029840	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 34
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	5411539	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 34
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	5411540	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 34
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	5411541	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 34
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	5411542	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 34
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	5411543	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 34
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	5411544	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 34
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	5411545	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 34
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	7181751	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 34
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	6148798	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 34
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	6148800	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 34
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	6148802	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 34
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1955	"Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." []	6632390	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 34
Orphanet:1956	\N	\N	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	74298	\N	\N	EFO	0	EFO	Erythromelalgia	Erythromelalgia
Orphanet:140474	Orphanet:1956	\N	"" []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	216114	\N	\N	EFO	1	EFO	Autosomal dominant hereditary sensory and autonomic neuropathy	Erythromelalgia
Orphanet:79385	Orphanet:1956	\N	"" []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	216115	\N	\N	EFO	1	EFO	Unclassified genetic skin disorder	Erythromelalgia
Orphanet:140471	Orphanet:140474	\N	"" []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	570463	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Erythromelalgia
Orphanet:68346	Orphanet:79385	\N	"" []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	570464	\N	\N	EFO	2	EFO	Rare genetic skin disease	Erythromelalgia
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	1152449	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Erythromelalgia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	1152450	\N	\N	EFO	3	EFO	genetic disorder	Erythromelalgia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	1152451	\N	\N	EFO	3	EFO	skin disease	Erythromelalgia
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	2034912	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Erythromelalgia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	4392933	\N	\N	EFO	6	EFO	disease	Erythromelalgia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	2034914	\N	\N	EFO	4	EFO	disease	Erythromelalgia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	3185380	\N	\N	EFO	5	EFO	genetic disorder	Erythromelalgia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	5059697	\N	\N	EFO	7	EFO	disposition	Erythromelalgia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	5876901	\N	\N	EFO	8	EFO	material property	Erythromelalgia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1956	"Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." []	6470107	\N	\N	EFO	9	EFO	experimental factor	Erythromelalgia
Orphanet:1962	\N	\N	"" []	Orphanet:1962	"" []	74299	\N	\N	EFO	0	EFO	Exostoses - anetodermia - brachydactyly type E	Exostoses - anetodermia - brachydactyly type E
Orphanet:93450	Orphanet:1962	\N	"" []	Orphanet:1962	"" []	216116	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Exostoses - anetodermia - brachydactyly type E
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:1962	"" []	570465	\N	\N	EFO	2	EFO	Primary bone dysplasia	Exostoses - anetodermia - brachydactyly type E
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:1962	"" []	1152452	\N	\N	EFO	3	EFO	Rare genetic bone disease	Exostoses - anetodermia - brachydactyly type E
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:1962	"" []	1152453	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Exostoses - anetodermia - brachydactyly type E
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1962	"" []	2034915	\N	\N	EFO	4	EFO	genetic disorder	Exostoses - anetodermia - brachydactyly type E
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1962	"" []	2034916	\N	\N	EFO	4	EFO	bone disease	Exostoses - anetodermia - brachydactyly type E
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1962	"" []	2034917	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Exostoses - anetodermia - brachydactyly type E
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1962	"" []	4392937	\N	\N	EFO	6	EFO	disease	Exostoses - anetodermia - brachydactyly type E
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1962	"" []	3185383	\N	\N	EFO	5	EFO	skeletal system disease	Exostoses - anetodermia - brachydactyly type E
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1962	"" []	3185384	\N	\N	EFO	5	EFO	genetic disorder	Exostoses - anetodermia - brachydactyly type E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1962	"" []	5181854	\N	\N	EFO	7	EFO	disposition	Exostoses - anetodermia - brachydactyly type E
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1962	"" []	4392936	\N	\N	EFO	6	EFO	disease	Exostoses - anetodermia - brachydactyly type E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1962	"" []	5997238	\N	\N	EFO	8	EFO	material property	Exostoses - anetodermia - brachydactyly type E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1962	"" []	6550730	\N	\N	EFO	9	EFO	experimental factor	Exostoses - anetodermia - brachydactyly type E
Orphanet:1970	\N	\N	"" []	Orphanet:1970	"" []	74300	\N	\N	EFO	0	EFO	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:102283	Orphanet:1970	\N	"" []	Orphanet:1970	"" []	216117	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:183763	Orphanet:1970	\N	"" []	Orphanet:1970	"" []	216118	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:269570	Orphanet:1970	\N	"" []	Orphanet:1970	"" []	216119	\N	\N	EFO	1	EFO	Genetic syndrome with a Dandy-Walker malformation as major feature	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1970	"" []	570466	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:1970	"" []	570467	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:269567	Orphanet:269570	\N	"" []	Orphanet:1970	"" []	570468	\N	\N	EFO	2	EFO	Genetic syndrome with a cerebellar malformation as major feature	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1970	"" []	1152454	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:1970	"" []	1152455	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:1970	"" []	1152456	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1970	"" []	4392939	\N	\N	EFO	6	EFO	genetic disorder	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1970	"" []	4392940	\N	\N	EFO	6	EFO	genetic disorder	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:1970	"" []	2034920	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1970	"" []	5059698	\N	\N	EFO	7	EFO	disease	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:1970	"" []	3185386	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:1970	"" []	3185387	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1970	"" []	5876902	\N	\N	EFO	8	EFO	disposition	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1970	"" []	6470108	\N	\N	EFO	9	EFO	material property	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1970	"" []	6848359	\N	\N	EFO	10	EFO	experimental factor	Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
Orphanet:1972	\N	\N	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	74301	\N	\N	EFO	0	EFO	Lethal faciocardiomelic dysplasia	Lethal faciocardiomelic dysplasia
Orphanet:330197	Orphanet:1972	\N	"" []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	216120	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Lethal faciocardiomelic dysplasia
Orphanet:404574	Orphanet:1972	\N	"" []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	216121	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Lethal faciocardiomelic dysplasia
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	570469	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lethal faciocardiomelic dysplasia
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	570470	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Lethal faciocardiomelic dysplasia
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	570471	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Lethal faciocardiomelic dysplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	1152457	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lethal faciocardiomelic dysplasia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	1152458	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Lethal faciocardiomelic dysplasia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	1152459	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Lethal faciocardiomelic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	4392943	\N	\N	EFO	6	EFO	genetic disorder	Lethal faciocardiomelic dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	2034922	\N	\N	EFO	4	EFO	Rare genetic bone disease	Lethal faciocardiomelic dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	2034923	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Lethal faciocardiomelic dysplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	2034924	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lethal faciocardiomelic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	5059699	\N	\N	EFO	7	EFO	disease	Lethal faciocardiomelic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	3185389	\N	\N	EFO	5	EFO	genetic disorder	Lethal faciocardiomelic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	3185390	\N	\N	EFO	5	EFO	bone disease	Lethal faciocardiomelic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	3185391	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lethal faciocardiomelic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	5876903	\N	\N	EFO	8	EFO	disposition	Lethal faciocardiomelic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	4392942	\N	\N	EFO	6	EFO	skeletal system disease	Lethal faciocardiomelic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	6470109	\N	\N	EFO	9	EFO	material property	Lethal faciocardiomelic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	5411550	\N	\N	EFO	7	EFO	disease	Lethal faciocardiomelic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1972	"Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." []	6848360	\N	\N	EFO	10	EFO	experimental factor	Lethal faciocardiomelic dysplasia
Orphanet:1973	\N	\N	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	74302	\N	\N	EFO	0	EFO	Faciocardiorenal syndrome	Faciocardiorenal syndrome
Orphanet:102283	Orphanet:1973	\N	"" []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	216122	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Faciocardiorenal syndrome
Orphanet:93547	Orphanet:1973	\N	"" []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	216123	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Faciocardiorenal syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	570472	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Faciocardiorenal syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	570473	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Faciocardiorenal syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	1152460	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Faciocardiorenal syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	1152461	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Faciocardiorenal syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	1152462	\N	\N	EFO	3	EFO	Rare genetic renal disease	Faciocardiorenal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	2034925	\N	\N	EFO	4	EFO	genetic disorder	Faciocardiorenal syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	2034926	\N	\N	EFO	4	EFO	genetic disorder	Faciocardiorenal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	3185393	\N	\N	EFO	5	EFO	disease	Faciocardiorenal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	4392944	\N	\N	EFO	6	EFO	disposition	Faciocardiorenal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	5411551	\N	\N	EFO	7	EFO	material property	Faciocardiorenal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1973	"Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." []	6148806	\N	\N	EFO	8	EFO	experimental factor	Faciocardiorenal syndrome
Orphanet:1974	\N	\N	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	74303	\N	\N	EFO	0	EFO	Autosomal recessive facio-digito-genital syndrome	Autosomal recessive facio-digito-genital syndrome
Orphanet:165707	Orphanet:1974	\N	"" []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	216124	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Autosomal recessive facio-digito-genital syndrome
Orphanet:183570	Orphanet:1974	\N	"" []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	216125	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Autosomal recessive facio-digito-genital syndrome
Orphanet:330206	Orphanet:1974	\N	"" []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	216126	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Autosomal recessive facio-digito-genital syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	570474	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Autosomal recessive facio-digito-genital syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	570475	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive facio-digito-genital syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	570476	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Autosomal recessive facio-digito-genital syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	1152463	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Autosomal recessive facio-digito-genital syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	2034929	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive facio-digito-genital syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	1152465	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive facio-digito-genital syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	2034927	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive facio-digito-genital syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	3000177	\N	\N	EFO	5	EFO	disease	Autosomal recessive facio-digito-genital syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	4133447	\N	\N	EFO	6	EFO	disposition	Autosomal recessive facio-digito-genital syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	5181856	\N	\N	EFO	7	EFO	material property	Autosomal recessive facio-digito-genital syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1974	"Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." []	5997240	\N	\N	EFO	8	EFO	experimental factor	Autosomal recessive facio-digito-genital syndrome
Orphanet:1979	\N	\N	"" []	Orphanet:1979	"" []	74304	\N	\N	EFO	0	EFO	Lipodystrophy due to peptidic growth factors deficiency	Lipodystrophy due to peptidic growth factors deficiency
Orphanet:98305	Orphanet:1979	\N	"" []	Orphanet:1979	"" []	216127	\N	\N	EFO	1	EFO	Genetic lipodystrophy	Lipodystrophy due to peptidic growth factors deficiency
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:1979	"" []	570477	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Lipodystrophy due to peptidic growth factors deficiency
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:1979	"" []	570478	\N	\N	EFO	2	EFO	Primary lipodystrophy	Lipodystrophy due to peptidic growth factors deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1979	"" []	1152466	\N	\N	EFO	3	EFO	genetic disorder	Lipodystrophy due to peptidic growth factors deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:1979	"" []	1152467	\N	\N	EFO	3	EFO	endocrine system disease	Lipodystrophy due to peptidic growth factors deficiency
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:1979	"" []	1152468	\N	\N	EFO	3	EFO	Genetic subcutaneous tissue disorder	Lipodystrophy due to peptidic growth factors deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1979	"" []	4392947	\N	\N	EFO	6	EFO	disease	Lipodystrophy due to peptidic growth factors deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1979	"" []	2034931	\N	\N	EFO	4	EFO	disease	Lipodystrophy due to peptidic growth factors deficiency
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:1979	"" []	2034932	\N	\N	EFO	4	EFO	Rare genetic skin disease	Lipodystrophy due to peptidic growth factors deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1979	"" []	5059700	\N	\N	EFO	7	EFO	disposition	Lipodystrophy due to peptidic growth factors deficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1979	"" []	3185396	\N	\N	EFO	5	EFO	genetic disorder	Lipodystrophy due to peptidic growth factors deficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1979	"" []	3185397	\N	\N	EFO	5	EFO	skin disease	Lipodystrophy due to peptidic growth factors deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1979	"" []	5876904	\N	\N	EFO	8	EFO	material property	Lipodystrophy due to peptidic growth factors deficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1979	"" []	4392948	\N	\N	EFO	6	EFO	disease	Lipodystrophy due to peptidic growth factors deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1979	"" []	6470110	\N	\N	EFO	9	EFO	experimental factor	Lipodystrophy due to peptidic growth factors deficiency
Orphanet:198	\N	\N	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	74305	\N	\N	EFO	0	EFO	Occipital horn syndrome	Occipital horn syndrome
Orphanet:209	Orphanet:198	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	216128	\N	\N	EFO	1	EFO	Cutis laxa	Occipital horn syndrome
Orphanet:309839	Orphanet:198	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	216129	\N	\N	EFO	1	EFO	Disorder of copper metabolism	Occipital horn syndrome
Orphanet:330197	Orphanet:198	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	216130	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Occipital horn syndrome
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	570479	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Occipital horn syndrome
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	570480	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Occipital horn syndrome
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	570481	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Occipital horn syndrome
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	570482	\N	\N	EFO	2	EFO	Congenital entropion	Occipital horn syndrome
Orphanet:309836	Orphanet:309839	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	570483	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Occipital horn syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	570484	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Occipital horn syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	1152469	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Occipital horn syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	1152470	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Occipital horn syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	1152471	\N	\N	EFO	3	EFO	Genetic dermis disorder	Occipital horn syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	1152472	\N	\N	EFO	3	EFO	Eyelids malposition disorder	Occipital horn syndrome
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	1152473	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Occipital horn syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	1152474	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Occipital horn syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	2034933	\N	\N	EFO	4	EFO	genetic disorder	Occipital horn syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	2034934	\N	\N	EFO	4	EFO	Rare genetic skin disease	Occipital horn syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	2034935	\N	\N	EFO	4	EFO	Rare palpebral disease	Occipital horn syndrome
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	2034936	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Occipital horn syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	6148808	\N	\N	EFO	8	EFO	disease	Occipital horn syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	3185399	\N	\N	EFO	5	EFO	genetic disorder	Occipital horn syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	3185400	\N	\N	EFO	5	EFO	skin disease	Occipital horn syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	3185401	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Occipital horn syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	3185402	\N	\N	EFO	5	EFO	genetic disorder	Occipital horn syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	3185403	\N	\N	EFO	5	EFO	metabolic disease	Occipital horn syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	6409903	\N	\N	EFO	9	EFO	disposition	Occipital horn syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	4392951	\N	\N	EFO	6	EFO	disease	Occipital horn syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	4392952	\N	\N	EFO	6	EFO	Rare genetic eye disease	Occipital horn syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	4392953	\N	\N	EFO	6	EFO	disease	Occipital horn syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	6807750	\N	\N	EFO	10	EFO	material property	Occipital horn syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	5411555	\N	\N	EFO	7	EFO	genetic disorder	Occipital horn syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	5411556	\N	\N	EFO	7	EFO	eye disease	Occipital horn syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	7048579	\N	\N	EFO	11	EFO	experimental factor	Occipital horn syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:198	"Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." []	6148809	\N	\N	EFO	8	EFO	disease	Occipital horn syndrome
Orphanet:1980	\N	\N	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	74306	\N	\N	EFO	0	EFO	Bilateral striopallidodentate calcinosis	Bilateral striopallidodentate calcinosis
Orphanet:158124	Orphanet:1980	\N	"" []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	216131	\N	\N	EFO	1	EFO	Genetic dementia	Bilateral striopallidodentate calcinosis
Orphanet:307058	Orphanet:1980	\N	"" []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	216132	\N	\N	EFO	1	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Bilateral striopallidodentate calcinosis
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	570485	\N	\N	EFO	2	EFO	brain disease	Bilateral striopallidodentate calcinosis
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	570486	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Bilateral striopallidodentate calcinosis
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	570487	\N	\N	EFO	2	EFO	neurodegenerative disease	Bilateral striopallidodentate calcinosis
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	570488	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Bilateral striopallidodentate calcinosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	1152475	\N	\N	EFO	3	EFO	nervous system disease	Bilateral striopallidodentate calcinosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	2034940	\N	\N	EFO	4	EFO	genetic disorder	Bilateral striopallidodentate calcinosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	1152477	\N	\N	EFO	3	EFO	nervous system disease	Bilateral striopallidodentate calcinosis
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	1152478	\N	\N	EFO	3	EFO	movement disorder	Bilateral striopallidodentate calcinosis
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	1152479	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Bilateral striopallidodentate calcinosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	3185405	\N	\N	EFO	5	EFO	disease	Bilateral striopallidodentate calcinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	3000178	\N	\N	EFO	5	EFO	disease	Bilateral striopallidodentate calcinosis
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	2034939	\N	\N	EFO	4	EFO	nervous system disease	Bilateral striopallidodentate calcinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	4133448	\N	\N	EFO	6	EFO	disposition	Bilateral striopallidodentate calcinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	5181858	\N	\N	EFO	7	EFO	material property	Bilateral striopallidodentate calcinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1980	"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." []	5997242	\N	\N	EFO	8	EFO	experimental factor	Bilateral striopallidodentate calcinosis
Orphanet:1986	\N	\N	"" []	Orphanet:1986	"" []	74307	\N	\N	EFO	0	EFO	Gollop-Wolfgang complex	Gollop-Wolfgang complex
Orphanet:294957	Orphanet:1986	\N	"" []	Orphanet:1986	"" []	216133	\N	\N	EFO	1	EFO	Dysostosis with combined reduction defects of upper and lower limbs	Gollop-Wolfgang complex
Orphanet:294959	Orphanet:1986	\N	"" []	Orphanet:1986	"" []	216134	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Gollop-Wolfgang complex
Orphanet:404574	Orphanet:1986	\N	"" []	Orphanet:1986	"" []	216135	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Gollop-Wolfgang complex
Orphanet:404571	Orphanet:294957	\N	"" []	Orphanet:1986	"" []	570489	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Gollop-Wolfgang complex
Orphanet:404577	Orphanet:294957	\N	"" []	Orphanet:1986	"" []	570490	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Gollop-Wolfgang complex
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:1986	"" []	570491	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Gollop-Wolfgang complex
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:1986	"" []	570492	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Gollop-Wolfgang complex
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:1986	"" []	570493	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Gollop-Wolfgang complex
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:1986	"" []	570494	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Gollop-Wolfgang complex
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1986	"" []	1152480	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Gollop-Wolfgang complex
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1986	"" []	1152481	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Gollop-Wolfgang complex
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1986	"" []	2034941	\N	\N	EFO	4	EFO	Rare genetic bone disease	Gollop-Wolfgang complex
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1986	"" []	2034942	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Gollop-Wolfgang complex
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1986	"" []	2034943	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Gollop-Wolfgang complex
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1986	"" []	3185406	\N	\N	EFO	5	EFO	genetic disorder	Gollop-Wolfgang complex
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1986	"" []	3185407	\N	\N	EFO	5	EFO	bone disease	Gollop-Wolfgang complex
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1986	"" []	3185408	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Gollop-Wolfgang complex
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1986	"" []	4392957	\N	\N	EFO	6	EFO	genetic disorder	Gollop-Wolfgang complex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1986	"" []	5181859	\N	\N	EFO	7	EFO	disease	Gollop-Wolfgang complex
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1986	"" []	4392956	\N	\N	EFO	6	EFO	skeletal system disease	Gollop-Wolfgang complex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1986	"" []	5997243	\N	\N	EFO	8	EFO	disposition	Gollop-Wolfgang complex
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1986	"" []	5411559	\N	\N	EFO	7	EFO	disease	Gollop-Wolfgang complex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1986	"" []	6550733	\N	\N	EFO	9	EFO	material property	Gollop-Wolfgang complex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1986	"" []	6889097	\N	\N	EFO	10	EFO	experimental factor	Gollop-Wolfgang complex
Orphanet:1987	\N	\N	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	74308	\N	\N	EFO	0	EFO	Femoral agenesis/hypoplasia	Femoral agenesis/hypoplasia
Orphanet:93457	Orphanet:1987	\N	"" []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	216136	\N	\N	EFO	1	EFO	Non-syndromic limb reduction defect	Femoral agenesis/hypoplasia
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	570495	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Femoral agenesis/hypoplasia
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	570496	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Femoral agenesis/hypoplasia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	1152482	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Femoral agenesis/hypoplasia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	1152483	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Femoral agenesis/hypoplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	2034944	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Femoral agenesis/hypoplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	2034945	\N	\N	EFO	4	EFO	Rare genetic bone disease	Femoral agenesis/hypoplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	2034946	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Femoral agenesis/hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	4392960	\N	\N	EFO	6	EFO	genetic disorder	Femoral agenesis/hypoplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	3185411	\N	\N	EFO	5	EFO	genetic disorder	Femoral agenesis/hypoplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	3185412	\N	\N	EFO	5	EFO	bone disease	Femoral agenesis/hypoplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	3185413	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Femoral agenesis/hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	5181860	\N	\N	EFO	7	EFO	disease	Femoral agenesis/hypoplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	4392959	\N	\N	EFO	6	EFO	skeletal system disease	Femoral agenesis/hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	5997244	\N	\N	EFO	8	EFO	disposition	Femoral agenesis/hypoplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	5411561	\N	\N	EFO	7	EFO	disease	Femoral agenesis/hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	6550734	\N	\N	EFO	9	EFO	material property	Femoral agenesis/hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1987	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	6889098	\N	\N	EFO	10	EFO	experimental factor	Femoral agenesis/hypoplasia
Orphanet:1988	\N	\N	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	74309	\N	\N	EFO	0	EFO	Femoral-facial syndrome	Femoral-facial syndrome
Orphanet:139039	Orphanet:1988	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	216137	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Femoral-facial syndrome
Orphanet:330206	Orphanet:1988	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	216138	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Femoral-facial syndrome
Orphanet:404574	Orphanet:1988	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	216139	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Femoral-facial syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	570497	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Femoral-facial syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	570498	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Femoral-facial syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	570499	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Femoral-facial syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	570500	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Femoral-facial syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	1152484	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Femoral-facial syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	1152485	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Femoral-facial syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	1152486	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Femoral-facial syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	1152487	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Femoral-facial syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	2034947	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Femoral-facial syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	4392961	\N	\N	EFO	6	EFO	genetic disorder	Femoral-facial syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	2034949	\N	\N	EFO	4	EFO	Rare genetic bone disease	Femoral-facial syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	2034950	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Femoral-facial syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	2034951	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Femoral-facial syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	3185414	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Femoral-facial syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	5059701	\N	\N	EFO	7	EFO	disease	Femoral-facial syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	3185416	\N	\N	EFO	5	EFO	genetic disorder	Femoral-facial syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	3185417	\N	\N	EFO	5	EFO	bone disease	Femoral-facial syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	3185418	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Femoral-facial syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	5876905	\N	\N	EFO	8	EFO	disposition	Femoral-facial syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	4392963	\N	\N	EFO	6	EFO	skeletal system disease	Femoral-facial syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	6470111	\N	\N	EFO	9	EFO	material property	Femoral-facial syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	5411563	\N	\N	EFO	7	EFO	disease	Femoral-facial syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1988	"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." []	6848361	\N	\N	EFO	10	EFO	experimental factor	Femoral-facial syndrome
Orphanet:199	\N	\N	")." []	Orphanet:199	")." []	74310	\N	\N	EFO	0	EFO	Cornelia de Lange syndrome	Cornelia de Lange syndrome
Orphanet:102283	Orphanet:199	\N	"" []	Orphanet:199	")." []	216140	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cornelia de Lange syndrome
Orphanet:138063	Orphanet:199	\N	"" []	Orphanet:199	")." []	216141	\N	\N	EFO	1	EFO	Syndrome associated with Pierre Robin syndrome	Cornelia de Lange syndrome
Orphanet:183570	Orphanet:199	\N	"" []	Orphanet:199	")." []	216142	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Cornelia de Lange syndrome
Orphanet:183763	Orphanet:199	\N	"" []	Orphanet:199	")." []	216143	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cornelia de Lange syndrome
Orphanet:404574	Orphanet:199	\N	"" []	Orphanet:199	")." []	216144	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Cornelia de Lange syndrome
Orphanet:98578	Orphanet:199	\N	"" []	Orphanet:199	")." []	216145	\N	\N	EFO	1	EFO	Ptosis	Cornelia de Lange syndrome
Orphanet:98596	Orphanet:199	\N	"" []	Orphanet:199	")." []	216146	\N	\N	EFO	1	EFO	Eyebrow hypertrophy	Cornelia de Lange syndrome
Orphanet:98683	Orphanet:199	\N	"" []	Orphanet:199	")." []	216147	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Cornelia de Lange syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:199	")." []	570501	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cornelia de Lange syndrome
Orphanet:363294	Orphanet:138063	\N	"" []	Orphanet:199	")." []	570502	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Cornelia de Lange syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:199	")." []	570503	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Cornelia de Lange syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:199	")." []	570504	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cornelia de Lange syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:199	")." []	570505	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Cornelia de Lange syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:199	")." []	570506	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Cornelia de Lange syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:199	")." []	570507	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Cornelia de Lange syndrome
Orphanet:98594	Orphanet:98596	\N	"" []	Orphanet:199	")." []	570508	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Cornelia de Lange syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:199	")." []	570509	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Cornelia de Lange syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:199	")." []	1152488	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cornelia de Lange syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:199	")." []	1152489	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Cornelia de Lange syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199	")." []	5411564	\N	\N	EFO	7	EFO	genetic disorder	Cornelia de Lange syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:199	")." []	1152491	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cornelia de Lange syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:199	")." []	1152492	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Cornelia de Lange syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:199	")." []	1152493	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Cornelia de Lange syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:199	")." []	1152494	\N	\N	EFO	3	EFO	Rare palpebral disease	Cornelia de Lange syndrome
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:199	")." []	1152495	\N	\N	EFO	3	EFO	Rare palpebral disease	Cornelia de Lange syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:199	")." []	1152496	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Cornelia de Lange syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:199	")." []	2034953	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Cornelia de Lange syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199	")." []	5801843	\N	\N	EFO	8	EFO	disease	Cornelia de Lange syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199	")." []	2034955	\N	\N	EFO	4	EFO	genetic disorder	Cornelia de Lange syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:199	")." []	2034956	\N	\N	EFO	4	EFO	Rare genetic bone disease	Cornelia de Lange syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:199	")." []	2034957	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Cornelia de Lange syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:199	")." []	2034958	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cornelia de Lange syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:199	")." []	2034959	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Cornelia de Lange syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:199	")." []	2034960	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cornelia de Lange syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:199	")." []	3185420	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Cornelia de Lange syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199	")." []	6378828	\N	\N	EFO	9	EFO	disposition	Cornelia de Lange syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199	")." []	3185422	\N	\N	EFO	5	EFO	genetic disorder	Cornelia de Lange syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:199	")." []	3185423	\N	\N	EFO	5	EFO	bone disease	Cornelia de Lange syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:199	")." []	3185424	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cornelia de Lange syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:199	")." []	3185426	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cornelia de Lange syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199	")." []	4392968	\N	\N	EFO	6	EFO	genetic disorder	Cornelia de Lange syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:199	")." []	4392969	\N	\N	EFO	6	EFO	eye disease	Cornelia de Lange syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:199	")." []	4392964	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Cornelia de Lange syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199	")." []	6778626	\N	\N	EFO	10	EFO	material property	Cornelia de Lange syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:199	")." []	4392966	\N	\N	EFO	6	EFO	skeletal system disease	Cornelia de Lange syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199	")." []	5181863	\N	\N	EFO	7	EFO	disease	Cornelia de Lange syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199	")." []	7029841	\N	\N	EFO	11	EFO	experimental factor	Cornelia de Lange syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199	")." []	5411566	\N	\N	EFO	7	EFO	disease	Cornelia de Lange syndrome
Orphanet:199241	\N	\N	"Pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary arterial hypertension (PAH, see this term) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." []	Orphanet:199241	"Pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary arterial hypertension (PAH, see this term) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." []	74311	\N	\N	EFO	0	EFO	Pulmonary capillary hemangiomatosis	Pulmonary capillary hemangiomatosis
Orphanet:156610	Orphanet:199241	\N	"" []	Orphanet:199241	"Pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary arterial hypertension (PAH, see this term) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." []	216148	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Pulmonary capillary hemangiomatosis
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199241	"Pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary arterial hypertension (PAH, see this term) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." []	570510	\N	\N	EFO	2	EFO	genetic disorder	Pulmonary capillary hemangiomatosis
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:199241	"Pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary arterial hypertension (PAH, see this term) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." []	570511	\N	\N	EFO	2	EFO	respiratory system disease	Pulmonary capillary hemangiomatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199241	"Pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary arterial hypertension (PAH, see this term) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." []	1152497	\N	\N	EFO	3	EFO	disease	Pulmonary capillary hemangiomatosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199241	"Pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary arterial hypertension (PAH, see this term) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." []	1152498	\N	\N	EFO	3	EFO	disease	Pulmonary capillary hemangiomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199241	"Pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary arterial hypertension (PAH, see this term) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." []	2034961	\N	\N	EFO	4	EFO	disposition	Pulmonary capillary hemangiomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199241	"Pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary arterial hypertension (PAH, see this term) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." []	3185429	\N	\N	EFO	5	EFO	material property	Pulmonary capillary hemangiomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199241	"Pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary arterial hypertension (PAH, see this term) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." []	4392971	\N	\N	EFO	6	EFO	experimental factor	Pulmonary capillary hemangiomatosis
Orphanet:199247	\N	\N	"" []	Orphanet:199247	"" []	74312	\N	\N	EFO	0	EFO	Corticosteroid-binding globulin deficiency	Corticosteroid-binding globulin deficiency
Orphanet:183637	Orphanet:199247	\N	"" []	Orphanet:199247	"" []	216149	\N	\N	EFO	1	EFO	Rare genetic adrenal disease	Corticosteroid-binding globulin deficiency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:199247	"" []	570512	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Corticosteroid-binding globulin deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199247	"" []	1152499	\N	\N	EFO	3	EFO	genetic disorder	Corticosteroid-binding globulin deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:199247	"" []	1152500	\N	\N	EFO	3	EFO	endocrine system disease	Corticosteroid-binding globulin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199247	"" []	2034962	\N	\N	EFO	4	EFO	disease	Corticosteroid-binding globulin deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199247	"" []	2034963	\N	\N	EFO	4	EFO	disease	Corticosteroid-binding globulin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199247	"" []	3185430	\N	\N	EFO	5	EFO	disposition	Corticosteroid-binding globulin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199247	"" []	4392972	\N	\N	EFO	6	EFO	material property	Corticosteroid-binding globulin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199247	"" []	5411567	\N	\N	EFO	7	EFO	experimental factor	Corticosteroid-binding globulin deficiency
Orphanet:199276	\N	\N	"" []	Orphanet:199276	"" []	74313	\N	\N	EFO	0	EFO	Familial multiple lipomatosis	Familial multiple lipomatosis
Orphanet:183484	Orphanet:199276	\N	"" []	Orphanet:199276	"" []	216150	\N	\N	EFO	1	EFO	Genetic subcutaneous tissue disorder	Familial multiple lipomatosis
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:199276	"" []	570513	\N	\N	EFO	2	EFO	Rare genetic skin disease	Familial multiple lipomatosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199276	"" []	1152501	\N	\N	EFO	3	EFO	genetic disorder	Familial multiple lipomatosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:199276	"" []	1152502	\N	\N	EFO	3	EFO	skin disease	Familial multiple lipomatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199276	"" []	2034964	\N	\N	EFO	4	EFO	disease	Familial multiple lipomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199276	"" []	2034965	\N	\N	EFO	4	EFO	disease	Familial multiple lipomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199276	"" []	3185431	\N	\N	EFO	5	EFO	disposition	Familial multiple lipomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199276	"" []	4392973	\N	\N	EFO	6	EFO	material property	Familial multiple lipomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199276	"" []	5411568	\N	\N	EFO	7	EFO	experimental factor	Familial multiple lipomatosis
Orphanet:199279	\N	\N	"" []	Orphanet:199279	"" []	74314	\N	\N	EFO	0	EFO	Familial angiolipomatosis	Familial angiolipomatosis
Orphanet:183484	Orphanet:199279	\N	"" []	Orphanet:199279	"" []	216151	\N	\N	EFO	1	EFO	Genetic subcutaneous tissue disorder	Familial angiolipomatosis
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:199279	"" []	570514	\N	\N	EFO	2	EFO	Rare genetic skin disease	Familial angiolipomatosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199279	"" []	1152503	\N	\N	EFO	3	EFO	genetic disorder	Familial angiolipomatosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:199279	"" []	1152504	\N	\N	EFO	3	EFO	skin disease	Familial angiolipomatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199279	"" []	2034966	\N	\N	EFO	4	EFO	disease	Familial angiolipomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199279	"" []	2034967	\N	\N	EFO	4	EFO	disease	Familial angiolipomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199279	"" []	3185432	\N	\N	EFO	5	EFO	disposition	Familial angiolipomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199279	"" []	4392974	\N	\N	EFO	6	EFO	material property	Familial angiolipomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199279	"" []	5411569	\N	\N	EFO	7	EFO	experimental factor	Familial angiolipomatosis
Orphanet:199282	\N	\N	"Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress with normal ocular sympathetic innervations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." []	Orphanet:199282	"Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress with normal ocular sympathetic innervations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." []	74315	\N	\N	EFO	0	EFO	Harlequin syndrome	Harlequin syndrome
Orphanet:71859	Orphanet:199282	\N	"" []	Orphanet:199282	"Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress with normal ocular sympathetic innervations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." []	216152	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Harlequin syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199282	"Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress with normal ocular sympathetic innervations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." []	570515	\N	\N	EFO	2	EFO	genetic disorder	Harlequin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199282	"Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress with normal ocular sympathetic innervations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." []	1152505	\N	\N	EFO	3	EFO	disease	Harlequin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199282	"Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress with normal ocular sympathetic innervations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." []	2034968	\N	\N	EFO	4	EFO	disposition	Harlequin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199282	"Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress with normal ocular sympathetic innervations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." []	3185433	\N	\N	EFO	5	EFO	material property	Harlequin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199282	"Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress with normal ocular sympathetic innervations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." []	4392975	\N	\N	EFO	6	EFO	experimental factor	Harlequin syndrome
Orphanet:199285	\N	\N	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	74316	\N	\N	EFO	0	EFO	Hereditary hypercarotenemia and vitamin A deficiency	Hereditary hypercarotenemia and vitamin A deficiency
EFO:0005596	Orphanet:199285	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	216153	\N	\N	EFO	1	EFO	vitamin metabolic disorder	Hereditary hypercarotenemia and vitamin A deficiency
Orphanet:309833	Orphanet:199285	\N	"" []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	216154	\N	\N	EFO	1	EFO	Disorder of other vitamins and cofactors metabolism and transport	Hereditary hypercarotenemia and vitamin A deficiency
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	570516	\N	\N	EFO	2	EFO	metabolic disease	Hereditary hypercarotenemia and vitamin A deficiency
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	570517	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Hereditary hypercarotenemia and vitamin A deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	4392978	\N	\N	EFO	6	EFO	disease	Hereditary hypercarotenemia and vitamin A deficiency
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	1152507	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Hereditary hypercarotenemia and vitamin A deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	5028405	\N	\N	EFO	7	EFO	disposition	Hereditary hypercarotenemia and vitamin A deficiency
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	2034970	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hereditary hypercarotenemia and vitamin A deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	5817530	\N	\N	EFO	8	EFO	material property	Hereditary hypercarotenemia and vitamin A deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	3185435	\N	\N	EFO	5	EFO	genetic disorder	Hereditary hypercarotenemia and vitamin A deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	3185436	\N	\N	EFO	5	EFO	metabolic disease	Hereditary hypercarotenemia and vitamin A deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	6409905	\N	\N	EFO	9	EFO	experimental factor	Hereditary hypercarotenemia and vitamin A deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199285	"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." []	4392977	\N	\N	EFO	6	EFO	disease	Hereditary hypercarotenemia and vitamin A deficiency
Orphanet:199296	\N	\N	"" []	Orphanet:199296	"" []	74317	\N	\N	EFO	0	EFO	Congenital isolated ACTH deficiency	Congenital isolated ACTH deficiency
Orphanet:95488	Orphanet:199296	\N	"" []	Orphanet:199296	"" []	216155	\N	\N	EFO	1	EFO	Non-acquired pituitary hormone deficiency	Congenital isolated ACTH deficiency
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:199296	"" []	570518	\N	\N	EFO	2	EFO	Pituitary deficiency	Congenital isolated ACTH deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:199296	"" []	1152508	\N	\N	EFO	3	EFO	Rare genetic hypothalamic or pituitary disease	Congenital isolated ACTH deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:199296	"" []	2034971	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Congenital isolated ACTH deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199296	"" []	3185437	\N	\N	EFO	5	EFO	genetic disorder	Congenital isolated ACTH deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:199296	"" []	3185438	\N	\N	EFO	5	EFO	endocrine system disease	Congenital isolated ACTH deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199296	"" []	4392979	\N	\N	EFO	6	EFO	disease	Congenital isolated ACTH deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199296	"" []	4392980	\N	\N	EFO	6	EFO	disease	Congenital isolated ACTH deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199296	"" []	5411570	\N	\N	EFO	7	EFO	disposition	Congenital isolated ACTH deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199296	"" []	6148813	\N	\N	EFO	8	EFO	material property	Congenital isolated ACTH deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199296	"" []	6632393	\N	\N	EFO	9	EFO	experimental factor	Congenital isolated ACTH deficiency
Orphanet:1993	\N	\N	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	74318	\N	\N	EFO	0	EFO	Pai syndrome	Pai syndrome
Orphanet:139039	Orphanet:1993	\N	"" []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	216156	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Pai syndrome
Orphanet:250	Orphanet:1993	\N	"" []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	216157	\N	\N	EFO	1	EFO	Frontonasal dysplasia	Pai syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	570519	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Pai syndrome
Orphanet:93453	Orphanet:250	\N	"" []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	570520	\N	\N	EFO	2	EFO	Dysostosis with predominant craniofacial involvement	Pai syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	1152509	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Pai syndrome
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	1152510	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Pai syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	2034972	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Pai syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	2034973	\N	\N	EFO	4	EFO	Rare genetic bone disease	Pai syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	2034974	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Pai syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	3185439	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pai syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	3185440	\N	\N	EFO	5	EFO	genetic disorder	Pai syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	3185441	\N	\N	EFO	5	EFO	bone disease	Pai syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	3185442	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pai syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	4392981	\N	\N	EFO	6	EFO	genetic disorder	Pai syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	5411571	\N	\N	EFO	7	EFO	disease	Pai syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	4392983	\N	\N	EFO	6	EFO	skeletal system disease	Pai syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	5997247	\N	\N	EFO	8	EFO	disposition	Pai syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	5411573	\N	\N	EFO	7	EFO	disease	Pai syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	6550736	\N	\N	EFO	9	EFO	material property	Pai syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1993	"Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." []	6889099	\N	\N	EFO	10	EFO	experimental factor	Pai syndrome
Orphanet:199310	\N	\N	"" []	Orphanet:199310	"" []	74319	\N	\N	EFO	0	EFO	Tetragametic chimerism	Tetragametic chimerism
Orphanet:263749	Orphanet:199310	\N	"" []	Orphanet:199310	"" []	216158	\N	\N	EFO	1	EFO	X and Y chromosomal anomaly	Tetragametic chimerism
Orphanet:325546	Orphanet:199310	\N	"" []	Orphanet:199310	"" []	216159	\N	\N	EFO	1	EFO	Sex chromosome disorder of sex development	Tetragametic chimerism
Orphanet:325638	Orphanet:199310	\N	"" []	Orphanet:199310	"" []	216160	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Tetragametic chimerism
Orphanet:98156	Orphanet:263749	\N	"" []	Orphanet:199310	"" []	570521	\N	\N	EFO	2	EFO	Gonosome number anomaly	Tetragametic chimerism
Orphanet:325690	Orphanet:325546	\N	"" []	Orphanet:199310	"" []	570522	\N	\N	EFO	2	EFO	Genetic disorder of sex development	Tetragametic chimerism
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:199310	"" []	570523	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Tetragametic chimerism
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:199310	"" []	1152511	\N	\N	EFO	3	EFO	Gonosome anomaly	Tetragametic chimerism
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:199310	"" []	1152512	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Tetragametic chimerism
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:199310	"" []	1152513	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Tetragametic chimerism
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:199310	"" []	1152514	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Tetragametic chimerism
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:199310	"" []	1152515	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Tetragametic chimerism
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:199310	"" []	2034975	\N	\N	EFO	4	EFO	Chromosomal anomaly	Tetragametic chimerism
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199310	"" []	2034976	\N	\N	EFO	4	EFO	genetic disorder	Tetragametic chimerism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199310	"" []	2034977	\N	\N	EFO	4	EFO	genetic disorder	Tetragametic chimerism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:199310	"" []	2034978	\N	\N	EFO	4	EFO	endocrine system disease	Tetragametic chimerism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199310	"" []	2034979	\N	\N	EFO	4	EFO	genetic disorder	Tetragametic chimerism
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199310	"" []	2034980	\N	\N	EFO	4	EFO	genetic disorder	Tetragametic chimerism
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:199310	"" []	2034981	\N	\N	EFO	4	EFO	reproductive system disease	Tetragametic chimerism
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199310	"" []	3185443	\N	\N	EFO	5	EFO	genetic disorder	Tetragametic chimerism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199310	"" []	4392984	\N	\N	EFO	6	EFO	disease	Tetragametic chimerism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199310	"" []	3185445	\N	\N	EFO	5	EFO	disease	Tetragametic chimerism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199310	"" []	3185446	\N	\N	EFO	5	EFO	disease	Tetragametic chimerism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199310	"" []	5181864	\N	\N	EFO	7	EFO	disposition	Tetragametic chimerism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199310	"" []	5997248	\N	\N	EFO	8	EFO	material property	Tetragametic chimerism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199310	"" []	6550737	\N	\N	EFO	9	EFO	experimental factor	Tetragametic chimerism
Orphanet:199315	\N	\N	"" []	Orphanet:199315	"" []	74320	\N	\N	EFO	0	EFO	Familial clubfoot with or without associated lower limb anomalies	Familial clubfoot with or without associated lower limb anomalies
Orphanet:404571	Orphanet:199315	\N	"" []	Orphanet:199315	"" []	216161	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Familial clubfoot with or without associated lower limb anomalies
Orphanet:404577	Orphanet:199315	\N	"" []	Orphanet:199315	"" []	216162	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Familial clubfoot with or without associated lower limb anomalies
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:199315	"" []	570524	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Familial clubfoot with or without associated lower limb anomalies
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:199315	"" []	570525	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Familial clubfoot with or without associated lower limb anomalies
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:199315	"" []	1152516	\N	\N	EFO	3	EFO	Rare genetic bone disease	Familial clubfoot with or without associated lower limb anomalies
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:199315	"" []	1152517	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Familial clubfoot with or without associated lower limb anomalies
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:199315	"" []	1152518	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Familial clubfoot with or without associated lower limb anomalies
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199315	"" []	2034982	\N	\N	EFO	4	EFO	genetic disorder	Familial clubfoot with or without associated lower limb anomalies
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:199315	"" []	2034983	\N	\N	EFO	4	EFO	bone disease	Familial clubfoot with or without associated lower limb anomalies
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:199315	"" []	2034984	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial clubfoot with or without associated lower limb anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199315	"" []	3185449	\N	\N	EFO	5	EFO	genetic disorder	Familial clubfoot with or without associated lower limb anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199315	"" []	4133451	\N	\N	EFO	6	EFO	disease	Familial clubfoot with or without associated lower limb anomalies
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:199315	"" []	3185448	\N	\N	EFO	5	EFO	skeletal system disease	Familial clubfoot with or without associated lower limb anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199315	"" []	5181865	\N	\N	EFO	7	EFO	disposition	Familial clubfoot with or without associated lower limb anomalies
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199315	"" []	4392987	\N	\N	EFO	6	EFO	disease	Familial clubfoot with or without associated lower limb anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199315	"" []	5997249	\N	\N	EFO	8	EFO	material property	Familial clubfoot with or without associated lower limb anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199315	"" []	6550738	\N	\N	EFO	9	EFO	experimental factor	Familial clubfoot with or without associated lower limb anomalies
Orphanet:199318	\N	\N	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	74321	\N	\N	EFO	0	EFO	15q13.3 microdeletion syndrome	15q13.3 microdeletion syndrome
Orphanet:102283	Orphanet:199318	\N	"" []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	216163	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	15q13.3 microdeletion syndrome
Orphanet:262119	Orphanet:199318	\N	"" []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	216164	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 15	15q13.3 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	570526	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	15q13.3 microdeletion syndrome
Orphanet:98142	Orphanet:262119	\N	"" []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	570527	\N	\N	EFO	2	EFO	Partial autosomal monosomy	15q13.3 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	1152519	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	15q13.3 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	1152520	\N	\N	EFO	3	EFO	Autosomal monosomy	15q13.3 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	2034986	\N	\N	EFO	4	EFO	genetic disorder	15q13.3 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	2034987	\N	\N	EFO	4	EFO	Autosomal anomaly	15q13.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	5411577	\N	\N	EFO	7	EFO	disease	15q13.3 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	3185451	\N	\N	EFO	5	EFO	Chromosomal anomaly	15q13.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	5876907	\N	\N	EFO	8	EFO	disposition	15q13.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	4392989	\N	\N	EFO	6	EFO	genetic disorder	15q13.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	6470113	\N	\N	EFO	9	EFO	material property	15q13.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199318	"15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." []	6848362	\N	\N	EFO	10	EFO	experimental factor	15q13.3 microdeletion syndrome
Orphanet:199326	\N	\N	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	74322	\N	\N	EFO	0	EFO	Isolated autosomal dominant hypomagnesemia, Glaudemans type	Isolated autosomal dominant hypomagnesemia, Glaudemans type
Orphanet:306522	Orphanet:199326	\N	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	216165	\N	\N	EFO	1	EFO	Familial primary hypomagnesemia with normocalcuria	Isolated autosomal dominant hypomagnesemia, Glaudemans type
Orphanet:34526	Orphanet:306522	\N	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	570528	\N	\N	EFO	2	EFO	Familial primary hypomagnesemia	Isolated autosomal dominant hypomagnesemia, Glaudemans type
Orphanet:183592	Orphanet:34526	\N	"" []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	1152521	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Isolated autosomal dominant hypomagnesemia, Glaudemans type
Orphanet:309848	Orphanet:34526	\N	"" []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	1152522	\N	\N	EFO	3	EFO	Disorder of magnesium transport	Isolated autosomal dominant hypomagnesemia, Glaudemans type
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	2034988	\N	\N	EFO	4	EFO	Rare genetic renal disease	Isolated autosomal dominant hypomagnesemia, Glaudemans type
Orphanet:309836	Orphanet:309848	\N	"" []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	2034989	\N	\N	EFO	4	EFO	Disorder of mineral absorption and transport	Isolated autosomal dominant hypomagnesemia, Glaudemans type
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	3185452	\N	\N	EFO	5	EFO	genetic disorder	Isolated autosomal dominant hypomagnesemia, Glaudemans type
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	3185453	\N	\N	EFO	5	EFO	Disorder of metabolite absorption and transport	Isolated autosomal dominant hypomagnesemia, Glaudemans type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	6148819	\N	\N	EFO	8	EFO	disease	Isolated autosomal dominant hypomagnesemia, Glaudemans type
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	4392991	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Isolated autosomal dominant hypomagnesemia, Glaudemans type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	6470114	\N	\N	EFO	9	EFO	disposition	Isolated autosomal dominant hypomagnesemia, Glaudemans type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	5411579	\N	\N	EFO	7	EFO	genetic disorder	Isolated autosomal dominant hypomagnesemia, Glaudemans type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	5411580	\N	\N	EFO	7	EFO	metabolic disease	Isolated autosomal dominant hypomagnesemia, Glaudemans type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	6848363	\N	\N	EFO	10	EFO	material property	Isolated autosomal dominant hypomagnesemia, Glaudemans type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	6148820	\N	\N	EFO	8	EFO	disease	Isolated autosomal dominant hypomagnesemia, Glaudemans type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199326	"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." []	7068405	\N	\N	EFO	11	EFO	experimental factor	Isolated autosomal dominant hypomagnesemia, Glaudemans type
Orphanet:199329	\N	\N	"" []	Orphanet:199329	"" []	74323	\N	\N	EFO	0	EFO	Congenital myopathy, Paradas type	Congenital myopathy, Paradas type
Orphanet:207073	Orphanet:199329	\N	"" []	Orphanet:199329	"" []	216166	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of dysferlin	Congenital myopathy, Paradas type
Orphanet:97242	Orphanet:199329	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:199329	"" []	216167	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Congenital myopathy, Paradas type
Orphanet:207049	Orphanet:207073	\N	"" []	Orphanet:199329	"" []	570529	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Congenital myopathy, Paradas type
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:199329	"" []	570530	\N	\N	EFO	2	EFO	Muscular dystrophy	Congenital myopathy, Paradas type
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:199329	"" []	1152523	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Congenital myopathy, Paradas type
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:199329	"" []	1152524	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital myopathy, Paradas type
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:199329	"" []	3185456	\N	\N	EFO	5	EFO	muscular disease	Congenital myopathy, Paradas type
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:199329	"" []	3185457	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital myopathy, Paradas type
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:199329	"" []	2034992	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital myopathy, Paradas type
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:199329	"" []	4133452	\N	\N	EFO	6	EFO	skeletal system disease	Congenital myopathy, Paradas type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199329	"" []	4133453	\N	\N	EFO	6	EFO	genetic disorder	Congenital myopathy, Paradas type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199329	"" []	5181866	\N	\N	EFO	7	EFO	disease	Congenital myopathy, Paradas type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199329	"" []	5181867	\N	\N	EFO	7	EFO	disease	Congenital myopathy, Paradas type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199329	"" []	5997250	\N	\N	EFO	8	EFO	disposition	Congenital myopathy, Paradas type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199329	"" []	6550739	\N	\N	EFO	9	EFO	material property	Congenital myopathy, Paradas type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199329	"" []	6889100	\N	\N	EFO	10	EFO	experimental factor	Congenital myopathy, Paradas type
Orphanet:199332	\N	\N	"" []	Orphanet:199332	"" []	74324	\N	\N	EFO	0	EFO	Endocrine-cerebro-osteodysplasia syndrome	Endocrine-cerebro-osteodysplasia syndrome
Orphanet:183533	Orphanet:199332	\N	"" []	Orphanet:199332	"" []	216168	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Endocrine-cerebro-osteodysplasia syndrome
Orphanet:364571	Orphanet:199332	\N	"" []	Orphanet:199332	"" []	216169	\N	\N	EFO	1	EFO	Dysostosis with limb and face anomalies as a major feature	Endocrine-cerebro-osteodysplasia syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:199332	"" []	570531	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Endocrine-cerebro-osteodysplasia syndrome
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:199332	"" []	570532	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Endocrine-cerebro-osteodysplasia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199332	"" []	4392997	\N	\N	EFO	6	EFO	genetic disorder	Endocrine-cerebro-osteodysplasia syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:199332	"" []	1152526	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Endocrine-cerebro-osteodysplasia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199332	"" []	5028406	\N	\N	EFO	7	EFO	disease	Endocrine-cerebro-osteodysplasia syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:199332	"" []	2034994	\N	\N	EFO	4	EFO	Rare genetic bone disease	Endocrine-cerebro-osteodysplasia syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:199332	"" []	2034995	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Endocrine-cerebro-osteodysplasia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199332	"" []	5817531	\N	\N	EFO	8	EFO	disposition	Endocrine-cerebro-osteodysplasia syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199332	"" []	3185459	\N	\N	EFO	5	EFO	genetic disorder	Endocrine-cerebro-osteodysplasia syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:199332	"" []	3185460	\N	\N	EFO	5	EFO	bone disease	Endocrine-cerebro-osteodysplasia syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:199332	"" []	3185461	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Endocrine-cerebro-osteodysplasia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199332	"" []	6409906	\N	\N	EFO	9	EFO	material property	Endocrine-cerebro-osteodysplasia syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:199332	"" []	4392996	\N	\N	EFO	6	EFO	skeletal system disease	Endocrine-cerebro-osteodysplasia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199332	"" []	6807752	\N	\N	EFO	10	EFO	experimental factor	Endocrine-cerebro-osteodysplasia syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199332	"" []	5411583	\N	\N	EFO	7	EFO	disease	Endocrine-cerebro-osteodysplasia syndrome
Orphanet:199337	\N	\N	"" []	Orphanet:199337	"" []	74325	\N	\N	EFO	0	EFO	Pancreatic insufficiency - anemia - hyperostosis	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:165661	Orphanet:199337	\N	"" []	Orphanet:199337	"" []	216170	\N	\N	EFO	1	EFO	Genetic pancreatic disease	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:2443	Orphanet:199337	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:199337	"" []	216171	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:293830	Orphanet:199337	\N	"" []	Orphanet:199337	"" []	216172	\N	\N	EFO	1	EFO	Constitutional dyserythropoietic anemia	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:93451	Orphanet:199337	\N	"" []	Orphanet:199337	"" []	216173	\N	\N	EFO	1	EFO	Cleidocranial dysplasia and isolated cranial ossification defect	Pancreatic insufficiency - anemia - hyperostosis
EFO:0001379	Orphanet:165661	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:199337	"" []	570533	\N	\N	EFO	2	EFO	endocrine system disease	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:165652	Orphanet:165661	\N	"" []	Orphanet:199337	"" []	570534	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:199337	"" []	570535	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:183651	Orphanet:293830	\N	"" []	Orphanet:199337	"" []	570536	\N	\N	EFO	2	EFO	Rare constitutional anemia	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:364526	Orphanet:93451	\N	"" []	Orphanet:199337	"" []	570537	\N	\N	EFO	2	EFO	Primary bone dysplasia	Pancreatic insufficiency - anemia - hyperostosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199337	"" []	1152527	\N	\N	EFO	3	EFO	disease	Pancreatic insufficiency - anemia - hyperostosis
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199337	"" []	1152528	\N	\N	EFO	3	EFO	genetic disorder	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:199337	"" []	1152529	\N	\N	EFO	3	EFO	Mitochondrial disease	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:199337	"" []	1152530	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:199337	"" []	1152531	\N	\N	EFO	3	EFO	Rare genetic bone disease	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:199337	"" []	1152532	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Pancreatic insufficiency - anemia - hyperostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199337	"" []	5817533	\N	\N	EFO	8	EFO	disposition	Pancreatic insufficiency - anemia - hyperostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199337	"" []	5181869	\N	\N	EFO	7	EFO	disease	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:199337	"" []	2034998	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:199337	"" []	2034999	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Pancreatic insufficiency - anemia - hyperostosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199337	"" []	2035000	\N	\N	EFO	4	EFO	genetic disorder	Pancreatic insufficiency - anemia - hyperostosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:199337	"" []	2035001	\N	\N	EFO	4	EFO	hematological system disease	Pancreatic insufficiency - anemia - hyperostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199337	"" []	2035002	\N	\N	EFO	4	EFO	genetic disorder	Pancreatic insufficiency - anemia - hyperostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:199337	"" []	2035003	\N	\N	EFO	4	EFO	bone disease	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:199337	"" []	2035004	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pancreatic insufficiency - anemia - hyperostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199337	"" []	6378829	\N	\N	EFO	9	EFO	material property	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:199337	"" []	3185464	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:199337	"" []	3185465	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Pancreatic insufficiency - anemia - hyperostosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199337	"" []	3185467	\N	\N	EFO	5	EFO	disease	Pancreatic insufficiency - anemia - hyperostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:199337	"" []	3185468	\N	\N	EFO	5	EFO	skeletal system disease	Pancreatic insufficiency - anemia - hyperostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199337	"" []	4392999	\N	\N	EFO	6	EFO	genetic disorder	Pancreatic insufficiency - anemia - hyperostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199337	"" []	6778627	\N	\N	EFO	10	EFO	experimental factor	Pancreatic insufficiency - anemia - hyperostosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199337	"" []	4393000	\N	\N	EFO	6	EFO	genetic disorder	Pancreatic insufficiency - anemia - hyperostosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:199337	"" []	4393001	\N	\N	EFO	6	EFO	metabolic disease	Pancreatic insufficiency - anemia - hyperostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199337	"" []	4393002	\N	\N	EFO	6	EFO	disease	Pancreatic insufficiency - anemia - hyperostosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199337	"" []	5411584	\N	\N	EFO	7	EFO	disease	Pancreatic insufficiency - anemia - hyperostosis
Orphanet:199340	\N	\N	"" []	Orphanet:199340	"" []	74326	\N	\N	EFO	0	EFO	Muscular dystrophy, Selcen type	Muscular dystrophy, Selcen type
Orphanet:593	Orphanet:199340	\N	"" []	Orphanet:199340	"" []	216174	\N	\N	EFO	1	EFO	Myofibrillar myopathy	Muscular dystrophy, Selcen type
Orphanet:206656	Orphanet:593	\N	"" []	Orphanet:199340	"" []	570538	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Muscular dystrophy, Selcen type
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:199340	"" []	1152533	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Muscular dystrophy, Selcen type
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:199340	"" []	2035005	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Muscular dystrophy, Selcen type
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:199340	"" []	3185470	\N	\N	EFO	5	EFO	muscular disease	Muscular dystrophy, Selcen type
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:199340	"" []	3185471	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Muscular dystrophy, Selcen type
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:199340	"" []	4393004	\N	\N	EFO	6	EFO	skeletal system disease	Muscular dystrophy, Selcen type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199340	"" []	4393005	\N	\N	EFO	6	EFO	genetic disorder	Muscular dystrophy, Selcen type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199340	"" []	5411585	\N	\N	EFO	7	EFO	disease	Muscular dystrophy, Selcen type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199340	"" []	5411586	\N	\N	EFO	7	EFO	disease	Muscular dystrophy, Selcen type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199340	"" []	6148822	\N	\N	EFO	8	EFO	disposition	Muscular dystrophy, Selcen type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199340	"" []	6632397	\N	\N	EFO	9	EFO	material property	Muscular dystrophy, Selcen type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199340	"" []	6925510	\N	\N	EFO	10	EFO	experimental factor	Muscular dystrophy, Selcen type
Orphanet:199343	\N	\N	"" []	Orphanet:199343	"" []	74327	\N	\N	EFO	0	EFO	EAST syndrome	EAST syndrome
Orphanet:182083	Orphanet:199343	\N	"" []	Orphanet:199343	"" []	216175	\N	\N	EFO	1	EFO	Channelopathy with epilepsy	EAST syndrome
Orphanet:183518	Orphanet:199343	\N	"" []	Orphanet:199343	"" []	216176	\N	\N	EFO	1	EFO	Rare hereditary ataxia	EAST syndrome
Orphanet:183592	Orphanet:199343	\N	"" []	Orphanet:199343	"" []	216177	\N	\N	EFO	1	EFO	Genetic renal tubular disease	EAST syndrome
Orphanet:90642	Orphanet:199343	\N	"" []	Orphanet:199343	"" []	216178	\N	\N	EFO	1	EFO	Syndromic genetic deafness	EAST syndrome
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:199343	"" []	570539	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	EAST syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:199343	"" []	570540	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	EAST syndrome
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:199343	"" []	570541	\N	\N	EFO	2	EFO	Rare genetic renal disease	EAST syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:199343	"" []	570542	\N	\N	EFO	2	EFO	Rare genetic deafness	EAST syndrome
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:199343	"" []	1152534	\N	\N	EFO	3	EFO	Rare genetic epilepsy	EAST syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199343	"" []	3185472	\N	\N	EFO	5	EFO	genetic disorder	EAST syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199343	"" []	1152536	\N	\N	EFO	3	EFO	genetic disorder	EAST syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199343	"" []	1152537	\N	\N	EFO	3	EFO	genetic disorder	EAST syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:199343	"" []	1152538	\N	\N	EFO	3	EFO	auditory system disease	EAST syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:199343	"" []	2035006	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	EAST syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199343	"" []	4066872	\N	\N	EFO	6	EFO	disease	EAST syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:199343	"" []	2035008	\N	\N	EFO	4	EFO	sensory system disease	EAST syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199343	"" []	5059706	\N	\N	EFO	7	EFO	disposition	EAST syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:199343	"" []	3185474	\N	\N	EFO	5	EFO	nervous system disease	EAST syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199343	"" []	5876910	\N	\N	EFO	8	EFO	material property	EAST syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199343	"" []	4393007	\N	\N	EFO	6	EFO	disease	EAST syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199343	"" []	6470116	\N	\N	EFO	9	EFO	experimental factor	EAST syndrome
Orphanet:199348	\N	\N	"" []	Orphanet:199348	"" []	74328	\N	\N	EFO	0	EFO	Thiamine-responsive encephalopathy	Thiamine-responsive encephalopathy
Orphanet:166472	Orphanet:199348	\N	"" []	Orphanet:199348	"" []	216179	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Thiamine-responsive encephalopathy
Orphanet:298644	Orphanet:199348	\N	"" []	Orphanet:199348	"" []	216180	\N	\N	EFO	1	EFO	Disorder of thiamine metabolism and transport	Thiamine-responsive encephalopathy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:199348	"" []	570543	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Thiamine-responsive encephalopathy
EFO:0005596	Orphanet:298644	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:199348	"" []	570544	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Thiamine-responsive encephalopathy
Orphanet:309827	Orphanet:298644	\N	"" []	Orphanet:199348	"" []	570545	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Thiamine-responsive encephalopathy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:199348	"" []	1152539	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Thiamine-responsive encephalopathy
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:199348	"" []	1152540	\N	\N	EFO	3	EFO	metabolic disease	Thiamine-responsive encephalopathy
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:199348	"" []	1152541	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Thiamine-responsive encephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199348	"" []	2035009	\N	\N	EFO	4	EFO	genetic disorder	Thiamine-responsive encephalopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199348	"" []	4393011	\N	\N	EFO	6	EFO	disease	Thiamine-responsive encephalopathy
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:199348	"" []	2035011	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Thiamine-responsive encephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199348	"" []	4393010	\N	\N	EFO	6	EFO	disease	Thiamine-responsive encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199348	"" []	5059707	\N	\N	EFO	7	EFO	disposition	Thiamine-responsive encephalopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199348	"" []	3185477	\N	\N	EFO	5	EFO	genetic disorder	Thiamine-responsive encephalopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:199348	"" []	3185478	\N	\N	EFO	5	EFO	metabolic disease	Thiamine-responsive encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199348	"" []	5876911	\N	\N	EFO	8	EFO	material property	Thiamine-responsive encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199348	"" []	6470117	\N	\N	EFO	9	EFO	experimental factor	Thiamine-responsive encephalopathy
Orphanet:199351	\N	\N	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	74329	\N	\N	EFO	0	EFO	Adult-onset dystonia-parkinsonism	Adult-onset dystonia-parkinsonism
Orphanet:307055	Orphanet:199351	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	216181	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Adult-onset dystonia-parkinsonism
Orphanet:329303	Orphanet:199351	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	216182	\N	\N	EFO	1	EFO	PLA2G6-associated neurodegeneration	Adult-onset dystonia-parkinsonism
Orphanet:391711	Orphanet:199351	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	216183	\N	\N	EFO	1	EFO	Persistent combined dystonia	Adult-onset dystonia-parkinsonism
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	570546	\N	\N	EFO	2	EFO	neurodegenerative disease	Adult-onset dystonia-parkinsonism
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	570547	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Adult-onset dystonia-parkinsonism
Orphanet:352306	Orphanet:329303	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	570548	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Adult-onset dystonia-parkinsonism
Orphanet:385	Orphanet:329303	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	570549	\N	\N	EFO	2	EFO	Neurodegeneration with brain iron accumulation	Adult-onset dystonia-parkinsonism
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	570550	\N	\N	EFO	2	EFO	Combined dystonia	Adult-onset dystonia-parkinsonism
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	3185484	\N	\N	EFO	5	EFO	nervous system disease	Adult-onset dystonia-parkinsonism
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	1152543	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Adult-onset dystonia-parkinsonism
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	1152544	\N	\N	EFO	3	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Adult-onset dystonia-parkinsonism
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	1152545	\N	\N	EFO	3	EFO	Genetic dementia	Adult-onset dystonia-parkinsonism
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	1152546	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Adult-onset dystonia-parkinsonism
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	1152547	\N	\N	EFO	3	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Adult-onset dystonia-parkinsonism
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	1152548	\N	\N	EFO	3	EFO	Neurometabolic disease	Adult-onset dystonia-parkinsonism
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	1152549	\N	\N	EFO	3	EFO	Rare genetic dystonia	Adult-onset dystonia-parkinsonism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	5181871	\N	\N	EFO	7	EFO	disease	Adult-onset dystonia-parkinsonism
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	3185485	\N	\N	EFO	5	EFO	movement disorder	Adult-onset dystonia-parkinsonism
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	3185486	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Adult-onset dystonia-parkinsonism
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	2035015	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Adult-onset dystonia-parkinsonism
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	2035016	\N	\N	EFO	4	EFO	brain disease	Adult-onset dystonia-parkinsonism
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	2035017	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Adult-onset dystonia-parkinsonism
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	2035018	\N	\N	EFO	4	EFO	neurodegenerative disease	Adult-onset dystonia-parkinsonism
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	2035019	\N	\N	EFO	4	EFO	brain disease	Adult-onset dystonia-parkinsonism
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	2035020	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Adult-onset dystonia-parkinsonism
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	2035021	\N	\N	EFO	4	EFO	neurodegenerative disease	Adult-onset dystonia-parkinsonism
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	2035022	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Adult-onset dystonia-parkinsonism
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	2035023	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Adult-onset dystonia-parkinsonism
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	2035024	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Adult-onset dystonia-parkinsonism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	5817534	\N	\N	EFO	8	EFO	disposition	Adult-onset dystonia-parkinsonism
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	4133456	\N	\N	EFO	6	EFO	nervous system disease	Adult-onset dystonia-parkinsonism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	4133457	\N	\N	EFO	6	EFO	genetic disorder	Adult-onset dystonia-parkinsonism
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	3185482	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Adult-onset dystonia-parkinsonism
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	3185483	\N	\N	EFO	5	EFO	nervous system disease	Adult-onset dystonia-parkinsonism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	6409908	\N	\N	EFO	9	EFO	material property	Adult-onset dystonia-parkinsonism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	5181872	\N	\N	EFO	7	EFO	disease	Adult-onset dystonia-parkinsonism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	4393014	\N	\N	EFO	6	EFO	genetic disorder	Adult-onset dystonia-parkinsonism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	4393015	\N	\N	EFO	6	EFO	metabolic disease	Adult-onset dystonia-parkinsonism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	6807753	\N	\N	EFO	10	EFO	experimental factor	Adult-onset dystonia-parkinsonism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199351	"Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." []	5411590	\N	\N	EFO	7	EFO	disease	Adult-onset dystonia-parkinsonism
Orphanet:199354	\N	\N	"CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." []	Orphanet:199354	"CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." []	74330	\N	\N	EFO	0	EFO	CARASIL	CARASIL
Orphanet:183503	Orphanet:199354	\N	"" []	Orphanet:199354	"CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." []	216184	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	CARASIL
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:199354	"CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." []	570551	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	CARASIL
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199354	"CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." []	1152550	\N	\N	EFO	3	EFO	genetic disorder	CARASIL
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199354	"CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." []	2035025	\N	\N	EFO	4	EFO	disease	CARASIL
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199354	"CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." []	3185487	\N	\N	EFO	5	EFO	disposition	CARASIL
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199354	"CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." []	4393016	\N	\N	EFO	6	EFO	material property	CARASIL
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199354	"CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." []	5411591	\N	\N	EFO	7	EFO	experimental factor	CARASIL
Orphanet:1995	\N	\N	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	74331	\N	\N	EFO	0	EFO	Cleft lip - retinopathy	Cleft lip - retinopathy
Orphanet:139039	Orphanet:1995	\N	"" []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	216185	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Cleft lip - retinopathy
Orphanet:330206	Orphanet:1995	\N	"" []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	216186	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Cleft lip - retinopathy
Orphanet:98661	Orphanet:1995	\N	"" []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	216187	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Cleft lip - retinopathy
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	570552	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Cleft lip - retinopathy
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	570553	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cleft lip - retinopathy
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	570554	\N	\N	EFO	2	EFO	Retinal dystrophy	Cleft lip - retinopathy
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	1152551	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Cleft lip - retinopathy
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	1152552	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cleft lip - retinopathy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	1152553	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Cleft lip - retinopathy
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	2035026	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Cleft lip - retinopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	4393017	\N	\N	EFO	6	EFO	genetic disorder	Cleft lip - retinopathy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	2035028	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cleft lip - retinopathy
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	3185488	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cleft lip - retinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	5059709	\N	\N	EFO	7	EFO	disease	Cleft lip - retinopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	3185490	\N	\N	EFO	5	EFO	genetic disorder	Cleft lip - retinopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	3185491	\N	\N	EFO	5	EFO	eye disease	Cleft lip - retinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	5876913	\N	\N	EFO	8	EFO	disposition	Cleft lip - retinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	4393020	\N	\N	EFO	6	EFO	disease	Cleft lip - retinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	6470119	\N	\N	EFO	9	EFO	material property	Cleft lip - retinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1995	"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." []	6848364	\N	\N	EFO	10	EFO	experimental factor	Cleft lip - retinopathy
Orphanet:199627	\N	\N	"'Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" []	Orphanet:199627	"'Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" []	74332	\N	\N	EFO	0	EFO	Atypical autism	Atypical autism
Orphanet:168778	Orphanet:199627	\N	"" []	Orphanet:199627	"'Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" []	216188	\N	\N	EFO	1	EFO	Rare pervasive developmental disorder	Atypical autism
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:199627	"'Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" []	570555	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Atypical autism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199627	"'Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" []	1152554	\N	\N	EFO	3	EFO	genetic disorder	Atypical autism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199627	"'Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" []	2035029	\N	\N	EFO	4	EFO	disease	Atypical autism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199627	"'Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" []	3185492	\N	\N	EFO	5	EFO	disposition	Atypical autism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199627	"'Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" []	4393021	\N	\N	EFO	6	EFO	material property	Atypical autism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199627	"'Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" []	5411593	\N	\N	EFO	7	EFO	experimental factor	Atypical autism
Orphanet:199642	\N	\N	"" []	Orphanet:199642	"" []	74333	\N	\N	EFO	0	EFO	Isolated congenital microcephaly	Isolated congenital microcephaly
Orphanet:269553	Orphanet:199642	\N	"" []	Orphanet:199642	"" []	216189	\N	\N	EFO	1	EFO	Genetic cerebral malformation	Isolated congenital microcephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:199642	"" []	570556	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Isolated congenital microcephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:199642	"" []	1152555	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Isolated congenital microcephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:199642	"" []	2035030	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated congenital microcephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:199642	"" []	2035031	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Isolated congenital microcephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199642	"" []	3185493	\N	\N	EFO	5	EFO	genetic disorder	Isolated congenital microcephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199642	"" []	3185494	\N	\N	EFO	5	EFO	genetic disorder	Isolated congenital microcephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199642	"" []	4393022	\N	\N	EFO	6	EFO	disease	Isolated congenital microcephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199642	"" []	5411594	\N	\N	EFO	7	EFO	disposition	Isolated congenital microcephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199642	"" []	6148824	\N	\N	EFO	8	EFO	material property	Isolated congenital microcephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199642	"" []	6632398	\N	\N	EFO	9	EFO	experimental factor	Isolated congenital microcephaly
Orphanet:199647	\N	\N	"" []	Orphanet:199647	"" []	74334	\N	\N	EFO	0	EFO	Isolated encephalocele	Isolated encephalocele
Orphanet:268817	Orphanet:199647	\N	"" []	Orphanet:199647	"" []	216190	\N	\N	EFO	1	EFO	Cephalocele	Isolated encephalocele
Orphanet:268357	Orphanet:268817	\N	"" []	Orphanet:199647	"" []	570557	\N	\N	EFO	2	EFO	Neural tube closure defect	Isolated encephalocele
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:199647	"" []	1152556	\N	\N	EFO	3	EFO	Neural tube defect	Isolated encephalocele
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:199647	"" []	2035032	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Isolated encephalocele
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:199647	"" []	3185495	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Isolated encephalocele
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:199647	"" []	4393023	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Isolated encephalocele
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:199647	"" []	4393024	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Isolated encephalocele
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199647	"" []	5411595	\N	\N	EFO	7	EFO	genetic disorder	Isolated encephalocele
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:199647	"" []	5411596	\N	\N	EFO	7	EFO	genetic disorder	Isolated encephalocele
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:199647	"" []	6148825	\N	\N	EFO	8	EFO	disease	Isolated encephalocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:199647	"" []	6632399	\N	\N	EFO	9	EFO	disposition	Isolated encephalocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:199647	"" []	6925511	\N	\N	EFO	10	EFO	material property	Isolated encephalocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:199647	"" []	7099040	\N	\N	EFO	11	EFO	experimental factor	Isolated encephalocele
Orphanet:1997	\N	\N	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	74335	\N	\N	EFO	0	EFO	Blepharo-cheilo-odontic syndrome	Blepharo-cheilo-odontic syndrome
Orphanet:139039	Orphanet:1997	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	216191	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Blepharo-cheilo-odontic syndrome
Orphanet:183580	Orphanet:1997	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	216192	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Blepharo-cheilo-odontic syndrome
Orphanet:330206	Orphanet:1997	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	216193	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Blepharo-cheilo-odontic syndrome
Orphanet:79373	Orphanet:1997	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	216194	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Blepharo-cheilo-odontic syndrome
Orphanet:98570	Orphanet:1997	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	216195	\N	\N	EFO	1	EFO	Congenital ectropion	Blepharo-cheilo-odontic syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	570558	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Blepharo-cheilo-odontic syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	570559	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Blepharo-cheilo-odontic syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	570560	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Blepharo-cheilo-odontic syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	570561	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Blepharo-cheilo-odontic syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	570562	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Blepharo-cheilo-odontic syndrome
Orphanet:98567	Orphanet:98570	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	570563	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Blepharo-cheilo-odontic syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	1152557	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Blepharo-cheilo-odontic syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	4393025	\N	\N	EFO	6	EFO	genetic disorder	Blepharo-cheilo-odontic syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	1152559	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Blepharo-cheilo-odontic syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	1152560	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Blepharo-cheilo-odontic syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	1152561	\N	\N	EFO	3	EFO	Rare genetic skin disease	Blepharo-cheilo-odontic syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	1152562	\N	\N	EFO	3	EFO	Rare palpebral disease	Blepharo-cheilo-odontic syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	2035033	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Blepharo-cheilo-odontic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	5028407	\N	\N	EFO	7	EFO	disease	Blepharo-cheilo-odontic syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	2035036	\N	\N	EFO	4	EFO	genetic disorder	Blepharo-cheilo-odontic syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	2035037	\N	\N	EFO	4	EFO	skin disease	Blepharo-cheilo-odontic syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	2035038	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Blepharo-cheilo-odontic syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	3185496	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Blepharo-cheilo-odontic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	5817535	\N	\N	EFO	8	EFO	disposition	Blepharo-cheilo-odontic syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	3185498	\N	\N	EFO	5	EFO	disease	Blepharo-cheilo-odontic syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	3185499	\N	\N	EFO	5	EFO	Rare genetic eye disease	Blepharo-cheilo-odontic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	6409909	\N	\N	EFO	9	EFO	material property	Blepharo-cheilo-odontic syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	4393027	\N	\N	EFO	6	EFO	genetic disorder	Blepharo-cheilo-odontic syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	4393028	\N	\N	EFO	6	EFO	eye disease	Blepharo-cheilo-odontic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	6807754	\N	\N	EFO	10	EFO	experimental factor	Blepharo-cheilo-odontic syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:1997	"Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." []	5411598	\N	\N	EFO	7	EFO	disease	Blepharo-cheilo-odontic syndrome
Orphanet:20	\N	\N	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	74336	\N	\N	EFO	0	EFO	3-hydroxy-3-methylglutaric aciduria	3-hydroxy-3-methylglutaric aciduria
Orphanet:79163	Orphanet:20	\N	"" []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	216196	\N	\N	EFO	1	EFO	Classic organic aciduria	3-hydroxy-3-methylglutaric aciduria
Orphanet:79183	Orphanet:20	\N	"" []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	216197	\N	\N	EFO	1	EFO	Disorder of ketone body metabolism	3-hydroxy-3-methylglutaric aciduria
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	570564	\N	\N	EFO	2	EFO	Organic aciduria	3-hydroxy-3-methylglutaric aciduria
Orphanet:79174	Orphanet:79183	\N	"" []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	570565	\N	\N	EFO	2	EFO	Disorder of fatty acid oxidation and ketone body metabolism	3-hydroxy-3-methylglutaric aciduria
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	1152563	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	3-hydroxy-3-methylglutaric aciduria
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	1152564	\N	\N	EFO	3	EFO	Disorder of energy metabolism	3-hydroxy-3-methylglutaric aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	2035039	\N	\N	EFO	4	EFO	Inborn errors of metabolism	3-hydroxy-3-methylglutaric aciduria
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	2035040	\N	\N	EFO	4	EFO	Inborn errors of metabolism	3-hydroxy-3-methylglutaric aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	3185500	\N	\N	EFO	5	EFO	genetic disorder	3-hydroxy-3-methylglutaric aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	3185501	\N	\N	EFO	5	EFO	metabolic disease	3-hydroxy-3-methylglutaric aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	4393029	\N	\N	EFO	6	EFO	disease	3-hydroxy-3-methylglutaric aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	4393030	\N	\N	EFO	6	EFO	disease	3-hydroxy-3-methylglutaric aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	5411599	\N	\N	EFO	7	EFO	disposition	3-hydroxy-3-methylglutaric aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	6148826	\N	\N	EFO	8	EFO	material property	3-hydroxy-3-methylglutaric aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:20	"3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." []	6632400	\N	\N	EFO	9	EFO	experimental factor	3-hydroxy-3-methylglutaric aciduria
Orphanet:200037	\N	\N	"" []	Orphanet:200037	"" []	74337	\N	\N	EFO	0	EFO	Paroxysmal dystonia	Paroxysmal dystonia
Orphanet:306768	Orphanet:200037	\N	"" []	Orphanet:200037	"" []	216198	\N	\N	EFO	1	EFO	Rare paroxysmal movement disorder	Paroxysmal dystonia
Orphanet:98203	Orphanet:200037	\N	"" []	Orphanet:200037	"" []	216199	\N	\N	EFO	1	EFO	Combined dystonia	Paroxysmal dystonia
Orphanet:183521	Orphanet:306768	\N	"" []	Orphanet:200037	"" []	570566	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Paroxysmal dystonia
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:200037	"" []	570567	\N	\N	EFO	2	EFO	Rare genetic dystonia	Paroxysmal dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:200037	"" []	2035043	\N	\N	EFO	4	EFO	movement disorder	Paroxysmal dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:200037	"" []	2035044	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Paroxysmal dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:200037	"" []	1152567	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Paroxysmal dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:200037	"" []	3000181	\N	\N	EFO	5	EFO	nervous system disease	Paroxysmal dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:200037	"" []	3000182	\N	\N	EFO	5	EFO	genetic disorder	Paroxysmal dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:200037	"" []	4133459	\N	\N	EFO	6	EFO	disease	Paroxysmal dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:200037	"" []	4133460	\N	\N	EFO	6	EFO	disease	Paroxysmal dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:200037	"" []	5181875	\N	\N	EFO	7	EFO	disposition	Paroxysmal dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:200037	"" []	5997254	\N	\N	EFO	8	EFO	material property	Paroxysmal dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:200037	"" []	6550741	\N	\N	EFO	9	EFO	experimental factor	Paroxysmal dystonia
Orphanet:2001	\N	\N	"" []	Orphanet:2001	"" []	74338	\N	\N	EFO	0	EFO	Cleft lip/palate - intestinal malrotation - cardiopathy	Cleft lip/palate - intestinal malrotation - cardiopathy
Orphanet:139039	Orphanet:2001	\N	"" []	Orphanet:2001	"" []	216200	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Cleft lip/palate - intestinal malrotation - cardiopathy
Orphanet:330206	Orphanet:2001	\N	"" []	Orphanet:2001	"" []	216201	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Cleft lip/palate - intestinal malrotation - cardiopathy
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2001	"" []	570568	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Cleft lip/palate - intestinal malrotation - cardiopathy
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2001	"" []	570569	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cleft lip/palate - intestinal malrotation - cardiopathy
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2001	"" []	1152568	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Cleft lip/palate - intestinal malrotation - cardiopathy
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2001	"" []	1152569	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cleft lip/palate - intestinal malrotation - cardiopathy
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2001	"" []	2035045	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Cleft lip/palate - intestinal malrotation - cardiopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2001	"" []	4393032	\N	\N	EFO	6	EFO	genetic disorder	Cleft lip/palate - intestinal malrotation - cardiopathy
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2001	"" []	3185504	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cleft lip/palate - intestinal malrotation - cardiopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2001	"" []	5059710	\N	\N	EFO	7	EFO	disease	Cleft lip/palate - intestinal malrotation - cardiopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2001	"" []	5876914	\N	\N	EFO	8	EFO	disposition	Cleft lip/palate - intestinal malrotation - cardiopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2001	"" []	6470120	\N	\N	EFO	9	EFO	material property	Cleft lip/palate - intestinal malrotation - cardiopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2001	"" []	6848365	\N	\N	EFO	10	EFO	experimental factor	Cleft lip/palate - intestinal malrotation - cardiopathy
Orphanet:2003	\N	\N	"" []	Orphanet:2003	"" []	74339	\N	\N	EFO	0	EFO	Cleft lip/palate - deafness - sacral lipoma	Cleft lip/palate - deafness - sacral lipoma
Orphanet:139039	Orphanet:2003	\N	"" []	Orphanet:2003	"" []	216202	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Cleft lip/palate - deafness - sacral lipoma
Orphanet:90642	Orphanet:2003	\N	"" []	Orphanet:2003	"" []	216203	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Cleft lip/palate - deafness - sacral lipoma
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2003	"" []	570570	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Cleft lip/palate - deafness - sacral lipoma
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2003	"" []	570571	\N	\N	EFO	2	EFO	Rare genetic deafness	Cleft lip/palate - deafness - sacral lipoma
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2003	"" []	1152570	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Cleft lip/palate - deafness - sacral lipoma
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2003	"" []	1152571	\N	\N	EFO	3	EFO	genetic disorder	Cleft lip/palate - deafness - sacral lipoma
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2003	"" []	1152572	\N	\N	EFO	3	EFO	auditory system disease	Cleft lip/palate - deafness - sacral lipoma
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2003	"" []	2035047	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Cleft lip/palate - deafness - sacral lipoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2003	"" []	5411602	\N	\N	EFO	7	EFO	disease	Cleft lip/palate - deafness - sacral lipoma
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2003	"" []	2035049	\N	\N	EFO	4	EFO	sensory system disease	Cleft lip/palate - deafness - sacral lipoma
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2003	"" []	3185506	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cleft lip/palate - deafness - sacral lipoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2003	"" []	5817536	\N	\N	EFO	8	EFO	disposition	Cleft lip/palate - deafness - sacral lipoma
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2003	"" []	3185508	\N	\N	EFO	5	EFO	nervous system disease	Cleft lip/palate - deafness - sacral lipoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2003	"" []	4393034	\N	\N	EFO	6	EFO	genetic disorder	Cleft lip/palate - deafness - sacral lipoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2003	"" []	6409910	\N	\N	EFO	9	EFO	material property	Cleft lip/palate - deafness - sacral lipoma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2003	"" []	4393036	\N	\N	EFO	6	EFO	disease	Cleft lip/palate - deafness - sacral lipoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2003	"" []	6807755	\N	\N	EFO	10	EFO	experimental factor	Cleft lip/palate - deafness - sacral lipoma
Orphanet:200418	\N	\N	"" []	Orphanet:200418	"" []	74340	\N	\N	EFO	0	EFO	Immunodeficiency with factor I anomaly	Immunodeficiency with factor I anomaly
Orphanet:101992	Orphanet:200418	\N	"" []	Orphanet:200418	"" []	216204	\N	\N	EFO	1	EFO	Immunodeficiency due to a complement cascade protein anomaly	Immunodeficiency with factor I anomaly
Orphanet:101988	Orphanet:101992	\N	"" []	Orphanet:200418	"" []	570572	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Immunodeficiency with factor I anomaly
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:200418	"" []	1152573	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency with factor I anomaly
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:200418	"" []	2035050	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency with factor I anomaly
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:200418	"" []	3185509	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency with factor I anomaly
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:200418	"" []	3185510	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency with factor I anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:200418	"" []	4393037	\N	\N	EFO	6	EFO	disease	Immunodeficiency with factor I anomaly
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:200418	"" []	4393038	\N	\N	EFO	6	EFO	disease	Immunodeficiency with factor I anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:200418	"" []	5411605	\N	\N	EFO	7	EFO	disposition	Immunodeficiency with factor I anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:200418	"" []	6148829	\N	\N	EFO	8	EFO	material property	Immunodeficiency with factor I anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:200418	"" []	6632401	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency with factor I anomaly
Orphanet:200421	\N	\N	"" []	Orphanet:200421	"" []	74341	\N	\N	EFO	0	EFO	Immunodeficiency with factor H anomaly	Immunodeficiency with factor H anomaly
Orphanet:101992	Orphanet:200421	\N	"" []	Orphanet:200421	"" []	216205	\N	\N	EFO	1	EFO	Immunodeficiency due to a complement cascade protein anomaly	Immunodeficiency with factor H anomaly
Orphanet:101988	Orphanet:101992	\N	"" []	Orphanet:200421	"" []	570573	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Immunodeficiency with factor H anomaly
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:200421	"" []	1152574	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency with factor H anomaly
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:200421	"" []	2035051	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency with factor H anomaly
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:200421	"" []	3185511	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency with factor H anomaly
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:200421	"" []	3185512	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency with factor H anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:200421	"" []	4393039	\N	\N	EFO	6	EFO	disease	Immunodeficiency with factor H anomaly
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:200421	"" []	4393040	\N	\N	EFO	6	EFO	disease	Immunodeficiency with factor H anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:200421	"" []	5411606	\N	\N	EFO	7	EFO	disposition	Immunodeficiency with factor H anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:200421	"" []	6148830	\N	\N	EFO	8	EFO	material property	Immunodeficiency with factor H anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:200421	"" []	6632402	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency with factor H anomaly
Orphanet:2005	\N	\N	"" []	Orphanet:2005	"" []	74342	\N	\N	EFO	0	EFO	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
Orphanet:108993	Orphanet:2005	\N	"" []	Orphanet:2005	"" []	216206	\N	\N	EFO	1	EFO	Non-syndromic respiratory or mediastinal malformation	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
Orphanet:156252	Orphanet:2005	\N	"" []	Orphanet:2005	"" []	216207	\N	\N	EFO	1	EFO	Tracheal anomaly	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:2005	"" []	570574	\N	\N	EFO	2	EFO	Genetic respiratory or mediastinal malformation	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
Orphanet:96333	Orphanet:156252	\N	"" []	Orphanet:2005	"" []	570575	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2005	"" []	1152575	\N	\N	EFO	3	EFO	respiratory system disease	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:2005	"" []	1152576	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2005	"" []	1152577	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2005	"" []	2035052	\N	\N	EFO	4	EFO	disease	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2005	"" []	3185515	\N	\N	EFO	5	EFO	genetic disorder	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2005	"" []	2035054	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2005	"" []	5181877	\N	\N	EFO	7	EFO	disposition	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2005	"" []	4133461	\N	\N	EFO	6	EFO	disease	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2005	"" []	5876916	\N	\N	EFO	8	EFO	material property	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2005	"" []	6470122	\N	\N	EFO	9	EFO	experimental factor	Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
Orphanet:2007	\N	\N	"Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." []	Orphanet:2007	"Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." []	74343	\N	\N	EFO	0	EFO	Alar cartilages hypoplasia - coloboma - telecanthus	Alar cartilages hypoplasia - coloboma - telecanthus
Orphanet:330206	Orphanet:2007	\N	"" []	Orphanet:2007	"Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." []	216208	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Alar cartilages hypoplasia - coloboma - telecanthus
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2007	"Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." []	570576	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Alar cartilages hypoplasia - coloboma - telecanthus
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2007	"Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." []	1152578	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Alar cartilages hypoplasia - coloboma - telecanthus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2007	"Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." []	2035055	\N	\N	EFO	4	EFO	genetic disorder	Alar cartilages hypoplasia - coloboma - telecanthus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2007	"Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." []	3185516	\N	\N	EFO	5	EFO	disease	Alar cartilages hypoplasia - coloboma - telecanthus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2007	"Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." []	4393043	\N	\N	EFO	6	EFO	disposition	Alar cartilages hypoplasia - coloboma - telecanthus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2007	"Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." []	5411608	\N	\N	EFO	7	EFO	material property	Alar cartilages hypoplasia - coloboma - telecanthus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2007	"Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." []	6148831	\N	\N	EFO	8	EFO	experimental factor	Alar cartilages hypoplasia - coloboma - telecanthus
Orphanet:2008	\N	\N	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	74344	\N	\N	EFO	0	EFO	Acro-cardio-facial syndrome	Acro-cardio-facial syndrome
Orphanet:102283	Orphanet:2008	\N	"" []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	216209	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Acro-cardio-facial syndrome
Orphanet:139039	Orphanet:2008	\N	"" []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	216210	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Acro-cardio-facial syndrome
Orphanet:183763	Orphanet:2008	\N	"" []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	216211	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Acro-cardio-facial syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	570577	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Acro-cardio-facial syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	570578	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Acro-cardio-facial syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	570579	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Acro-cardio-facial syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	1152579	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acro-cardio-facial syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	1152580	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Acro-cardio-facial syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	1152581	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Acro-cardio-facial syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	4393045	\N	\N	EFO	6	EFO	genetic disorder	Acro-cardio-facial syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	2035057	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Acro-cardio-facial syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	2035058	\N	\N	EFO	4	EFO	genetic disorder	Acro-cardio-facial syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	5059711	\N	\N	EFO	7	EFO	disease	Acro-cardio-facial syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	3185518	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acro-cardio-facial syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	5876917	\N	\N	EFO	8	EFO	disposition	Acro-cardio-facial syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	6470123	\N	\N	EFO	9	EFO	material property	Acro-cardio-facial syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2008	"Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." []	6848366	\N	\N	EFO	10	EFO	experimental factor	Acro-cardio-facial syndrome
Orphanet:201	\N	\N	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	74345	\N	\N	EFO	0	EFO	Cowden syndrome	Cowden syndrome
Orphanet:271835	Orphanet:201	\N	"" []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	216212	\N	\N	EFO	1	EFO	Genetic digestive tract tumor	Cowden syndrome
Orphanet:306498	Orphanet:201	\N	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	216213	\N	\N	EFO	1	EFO	PTEN hamartoma tumor syndrome	Cowden syndrome
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	570580	\N	\N	EFO	2	EFO	digestive system disease	Cowden syndrome
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	570581	\N	\N	EFO	2	EFO	Rare genetic tumor	Cowden syndrome
Orphanet:183422	Orphanet:306498	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	570582	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Cowden syndrome
Orphanet:98196	Orphanet:306498	\N	"" []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	570583	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	Cowden syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	1152582	\N	\N	EFO	3	EFO	disease	Cowden syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	1152583	\N	\N	EFO	3	EFO	genetic disorder	Cowden syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	1152584	\N	\N	EFO	3	EFO	neoplasm	Cowden syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	1152585	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Cowden syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	1152586	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cowden syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	4133463	\N	\N	EFO	6	EFO	disposition	Cowden syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	3185521	\N	\N	EFO	5	EFO	disease	Cowden syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	2035061	\N	\N	EFO	4	EFO	disease	Cowden syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	2035062	\N	\N	EFO	4	EFO	genetic disorder	Cowden syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	2035063	\N	\N	EFO	4	EFO	genetic disorder	Cowden syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	5059712	\N	\N	EFO	7	EFO	material property	Cowden syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:201	" mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." []	5876918	\N	\N	EFO	8	EFO	experimental factor	Cowden syndrome
Orphanet:2010	\N	\N	"Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." []	Orphanet:2010	"Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." []	74346	\N	\N	EFO	0	EFO	Cleft palate - stapes fixation - oligodontia	Cleft palate - stapes fixation - oligodontia
Orphanet:183580	Orphanet:2010	\N	"" []	Orphanet:2010	"Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." []	216214	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Cleft palate - stapes fixation - oligodontia
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2010	"Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." []	570584	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Cleft palate - stapes fixation - oligodontia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2010	"Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." []	1152587	\N	\N	EFO	3	EFO	genetic disorder	Cleft palate - stapes fixation - oligodontia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2010	"Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." []	2035064	\N	\N	EFO	4	EFO	disease	Cleft palate - stapes fixation - oligodontia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2010	"Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." []	3185522	\N	\N	EFO	5	EFO	disposition	Cleft palate - stapes fixation - oligodontia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2010	"Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." []	4393047	\N	\N	EFO	6	EFO	material property	Cleft palate - stapes fixation - oligodontia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2010	"Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." []	5411610	\N	\N	EFO	7	EFO	experimental factor	Cleft palate - stapes fixation - oligodontia
Orphanet:2013	\N	\N	"" []	Orphanet:2013	"" []	74347	\N	\N	EFO	0	EFO	Cleft palate - large ears - small head	Cleft palate - large ears - small head
Orphanet:139039	Orphanet:2013	\N	"" []	Orphanet:2013	"" []	216215	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Cleft palate - large ears - small head
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2013	"" []	570585	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Cleft palate - large ears - small head
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2013	"" []	1152588	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Cleft palate - large ears - small head
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2013	"" []	2035065	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Cleft palate - large ears - small head
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2013	"" []	3185523	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cleft palate - large ears - small head
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2013	"" []	4393048	\N	\N	EFO	6	EFO	genetic disorder	Cleft palate - large ears - small head
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2013	"" []	5411611	\N	\N	EFO	7	EFO	disease	Cleft palate - large ears - small head
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2013	"" []	6148833	\N	\N	EFO	8	EFO	disposition	Cleft palate - large ears - small head
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2013	"" []	6632403	\N	\N	EFO	9	EFO	material property	Cleft palate - large ears - small head
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2013	"" []	6925512	\N	\N	EFO	10	EFO	experimental factor	Cleft palate - large ears - small head
Orphanet:2015	\N	\N	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	74348	\N	\N	EFO	0	EFO	Cleft palate - short stature - vertebral anomalies	Cleft palate - short stature - vertebral anomalies
Orphanet:102283	Orphanet:2015	\N	"" []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	216216	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cleft palate - short stature - vertebral anomalies
Orphanet:139039	Orphanet:2015	\N	"" []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	216217	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Cleft palate - short stature - vertebral anomalies
Orphanet:183763	Orphanet:2015	\N	"" []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	216218	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cleft palate - short stature - vertebral anomalies
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	570586	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cleft palate - short stature - vertebral anomalies
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	570587	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Cleft palate - short stature - vertebral anomalies
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	570588	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cleft palate - short stature - vertebral anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	1152589	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cleft palate - short stature - vertebral anomalies
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	1152590	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Cleft palate - short stature - vertebral anomalies
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	1152591	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cleft palate - short stature - vertebral anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	4393050	\N	\N	EFO	6	EFO	genetic disorder	Cleft palate - short stature - vertebral anomalies
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	2035067	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Cleft palate - short stature - vertebral anomalies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	2035068	\N	\N	EFO	4	EFO	genetic disorder	Cleft palate - short stature - vertebral anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	5059713	\N	\N	EFO	7	EFO	disease	Cleft palate - short stature - vertebral anomalies
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	3185525	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cleft palate - short stature - vertebral anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	5876919	\N	\N	EFO	8	EFO	disposition	Cleft palate - short stature - vertebral anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	6470124	\N	\N	EFO	9	EFO	material property	Cleft palate - short stature - vertebral anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2015	"Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." []	6848367	\N	\N	EFO	10	EFO	experimental factor	Cleft palate - short stature - vertebral anomalies
Orphanet:2016	\N	\N	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	74349	\N	\N	EFO	0	EFO	Cleft palate-lateral synechia syndrome	Cleft palate-lateral synechia syndrome
Orphanet:139039	Orphanet:2016	\N	"" []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	216219	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Cleft palate-lateral synechia syndrome
Orphanet:330206	Orphanet:2016	\N	"" []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	216220	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Cleft palate-lateral synechia syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	570589	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Cleft palate-lateral synechia syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	570590	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cleft palate-lateral synechia syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	1152592	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Cleft palate-lateral synechia syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	1152593	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cleft palate-lateral synechia syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	2035069	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Cleft palate-lateral synechia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	4393051	\N	\N	EFO	6	EFO	genetic disorder	Cleft palate-lateral synechia syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	3185526	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cleft palate-lateral synechia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	5059714	\N	\N	EFO	7	EFO	disease	Cleft palate-lateral synechia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	5876920	\N	\N	EFO	8	EFO	disposition	Cleft palate-lateral synechia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	6470125	\N	\N	EFO	9	EFO	material property	Cleft palate-lateral synechia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2016	"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." []	6848368	\N	\N	EFO	10	EFO	experimental factor	Cleft palate-lateral synechia syndrome
Orphanet:2019	\N	\N	"" []	Orphanet:2019	"" []	74350	\N	\N	EFO	0	EFO	Femur-fibula-ulna complex	Femur-fibula-ulna complex
Orphanet:294957	Orphanet:2019	\N	"" []	Orphanet:2019	"" []	216221	\N	\N	EFO	1	EFO	Dysostosis with combined reduction defects of upper and lower limbs	Femur-fibula-ulna complex
Orphanet:404571	Orphanet:294957	\N	"" []	Orphanet:2019	"" []	570591	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Femur-fibula-ulna complex
Orphanet:404577	Orphanet:294957	\N	"" []	Orphanet:2019	"" []	570592	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Femur-fibula-ulna complex
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2019	"" []	1152594	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Femur-fibula-ulna complex
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2019	"" []	1152595	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Femur-fibula-ulna complex
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2019	"" []	2035071	\N	\N	EFO	4	EFO	Rare genetic bone disease	Femur-fibula-ulna complex
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2019	"" []	2035072	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Femur-fibula-ulna complex
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2019	"" []	2035073	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Femur-fibula-ulna complex
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2019	"" []	3185528	\N	\N	EFO	5	EFO	genetic disorder	Femur-fibula-ulna complex
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2019	"" []	3185529	\N	\N	EFO	5	EFO	bone disease	Femur-fibula-ulna complex
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2019	"" []	3185530	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Femur-fibula-ulna complex
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2019	"" []	4393055	\N	\N	EFO	6	EFO	genetic disorder	Femur-fibula-ulna complex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2019	"" []	5181879	\N	\N	EFO	7	EFO	disease	Femur-fibula-ulna complex
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2019	"" []	4393054	\N	\N	EFO	6	EFO	skeletal system disease	Femur-fibula-ulna complex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2019	"" []	5997256	\N	\N	EFO	8	EFO	disposition	Femur-fibula-ulna complex
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2019	"" []	5411615	\N	\N	EFO	7	EFO	disease	Femur-fibula-ulna complex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2019	"" []	6550742	\N	\N	EFO	9	EFO	material property	Femur-fibula-ulna complex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2019	"" []	6889101	\N	\N	EFO	10	EFO	experimental factor	Femur-fibula-ulna complex
Orphanet:202	\N	\N	"" []	Orphanet:202	"" []	74351	\N	\N	EFO	0	EFO	Crandall syndrome	Crandall syndrome
Orphanet:79367	Orphanet:202	\N	"" []	Orphanet:202	"" []	216222	\N	\N	EFO	1	EFO	Syndromic hair shaft abnormality	Crandall syndrome
Orphanet:183450	Orphanet:79367	\N	"" []	Orphanet:202	"" []	570593	\N	\N	EFO	2	EFO	Genetic hair anomaly	Crandall syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:202	"" []	1152596	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Crandall syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:202	"" []	2035074	\N	\N	EFO	4	EFO	Rare genetic skin disease	Crandall syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:202	"" []	3185532	\N	\N	EFO	5	EFO	genetic disorder	Crandall syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:202	"" []	3185533	\N	\N	EFO	5	EFO	skin disease	Crandall syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:202	"" []	4393056	\N	\N	EFO	6	EFO	disease	Crandall syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:202	"" []	4393057	\N	\N	EFO	6	EFO	disease	Crandall syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:202	"" []	5411616	\N	\N	EFO	7	EFO	disposition	Crandall syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:202	"" []	6148837	\N	\N	EFO	8	EFO	material property	Crandall syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:202	"" []	6632405	\N	\N	EFO	9	EFO	experimental factor	Crandall syndrome
Orphanet:2020	\N	\N	"" []	Orphanet:2020	"" []	74352	\N	\N	EFO	0	EFO	Congenital fiber-type disproportion myopathy	Congenital fiber-type disproportion myopathy
Orphanet:209059	Orphanet:2020	\N	"" []	Orphanet:2020	"" []	216223	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of alpha-actin	Congenital fiber-type disproportion myopathy
Orphanet:209193	Orphanet:2020	\N	"" []	Orphanet:2020	"" []	216224	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of selenoprotein N1	Congenital fiber-type disproportion myopathy
Orphanet:284790	Orphanet:2020	\N	"" []	Orphanet:2020	"" []	216225	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of tropomyosin	Congenital fiber-type disproportion myopathy
Orphanet:97245	Orphanet:2020	\N	"" []	Orphanet:2020	"" []	216226	\N	\N	EFO	1	EFO	Congenital myopathy	Congenital fiber-type disproportion myopathy
Orphanet:207049	Orphanet:209059	\N	"" []	Orphanet:2020	"" []	570594	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Congenital fiber-type disproportion myopathy
Orphanet:207049	Orphanet:209193	\N	"" []	Orphanet:2020	"" []	570595	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Congenital fiber-type disproportion myopathy
Orphanet:207049	Orphanet:284790	\N	"" []	Orphanet:2020	"" []	570596	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Congenital fiber-type disproportion myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:2020	"" []	570597	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Congenital fiber-type disproportion myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:2020	"" []	1152597	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Congenital fiber-type disproportion myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:2020	"" []	1152598	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital fiber-type disproportion myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:2020	"" []	3185536	\N	\N	EFO	5	EFO	muscular disease	Congenital fiber-type disproportion myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:2020	"" []	3185537	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital fiber-type disproportion myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:2020	"" []	2035077	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital fiber-type disproportion myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2020	"" []	4133464	\N	\N	EFO	6	EFO	skeletal system disease	Congenital fiber-type disproportion myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2020	"" []	4133465	\N	\N	EFO	6	EFO	genetic disorder	Congenital fiber-type disproportion myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2020	"" []	5181880	\N	\N	EFO	7	EFO	disease	Congenital fiber-type disproportion myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2020	"" []	5181881	\N	\N	EFO	7	EFO	disease	Congenital fiber-type disproportion myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2020	"" []	5997257	\N	\N	EFO	8	EFO	disposition	Congenital fiber-type disproportion myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2020	"" []	6550743	\N	\N	EFO	9	EFO	material property	Congenital fiber-type disproportion myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2020	"" []	6889102	\N	\N	EFO	10	EFO	experimental factor	Congenital fiber-type disproportion myopathy
Orphanet:2021	\N	\N	"" []	Orphanet:2021	"" []	74353	\N	\N	EFO	0	EFO	Fibrochondrogenesis	Fibrochondrogenesis
Orphanet:93422	Orphanet:2021	\N	"" []	Orphanet:2021	"" []	216227	\N	\N	EFO	1	EFO	Type 11 collagen-related bone disorder	Fibrochondrogenesis
Orphanet:93438	Orphanet:2021	\N	"" []	Orphanet:2021	"" []	216228	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Fibrochondrogenesis
Orphanet:364803	Orphanet:93422	\N	"" []	Orphanet:2021	"" []	570598	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Fibrochondrogenesis
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:2021	"" []	570599	\N	\N	EFO	2	EFO	Primary bone dysplasia	Fibrochondrogenesis
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:2021	"" []	1152599	\N	\N	EFO	3	EFO	Rare genetic bone disease	Fibrochondrogenesis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2021	"" []	1152600	\N	\N	EFO	3	EFO	Rare genetic bone disease	Fibrochondrogenesis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2021	"" []	1152601	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Fibrochondrogenesis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2021	"" []	2035078	\N	\N	EFO	4	EFO	genetic disorder	Fibrochondrogenesis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2021	"" []	2035079	\N	\N	EFO	4	EFO	bone disease	Fibrochondrogenesis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2021	"" []	2035080	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Fibrochondrogenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2021	"" []	4393062	\N	\N	EFO	6	EFO	disease	Fibrochondrogenesis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2021	"" []	3185539	\N	\N	EFO	5	EFO	skeletal system disease	Fibrochondrogenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2021	"" []	3185540	\N	\N	EFO	5	EFO	genetic disorder	Fibrochondrogenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2021	"" []	5181882	\N	\N	EFO	7	EFO	disposition	Fibrochondrogenesis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2021	"" []	4393061	\N	\N	EFO	6	EFO	disease	Fibrochondrogenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2021	"" []	5997258	\N	\N	EFO	8	EFO	material property	Fibrochondrogenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2021	"" []	6550744	\N	\N	EFO	9	EFO	experimental factor	Fibrochondrogenesis
Orphanet:2022	\N	\N	"" []	Orphanet:2022	"" []	74354	\N	\N	EFO	0	EFO	Endomyocardial fibroelastosis	Endomyocardial fibroelastosis
Orphanet:217607	Orphanet:2022	\N	"" []	Orphanet:2022	"" []	216229	\N	\N	EFO	1	EFO	Familial dilated cardiomyopathy	Endomyocardial fibroelastosis
Orphanet:217635	Orphanet:2022	\N	"" []	Orphanet:2022	"" []	216230	\N	\N	EFO	1	EFO	Familial restrictive cardiomyopathy	Endomyocardial fibroelastosis
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:2022	"" []	570600	\N	\N	EFO	2	EFO	cardiomyopathy	Endomyocardial fibroelastosis
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:2022	"" []	570601	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Endomyocardial fibroelastosis
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:2022	"" []	570602	\N	\N	EFO	2	EFO	cardiomyopathy	Endomyocardial fibroelastosis
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:2022	"" []	570603	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Endomyocardial fibroelastosis
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2022	"" []	1152602	\N	\N	EFO	3	EFO	heart disease	Endomyocardial fibroelastosis
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2022	"" []	1152603	\N	\N	EFO	3	EFO	genetic disorder	Endomyocardial fibroelastosis
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2022	"" []	1152604	\N	\N	EFO	3	EFO	heart disease	Endomyocardial fibroelastosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:2022	"" []	2035081	\N	\N	EFO	4	EFO	cardiovascular disease	Endomyocardial fibroelastosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2022	"" []	2035082	\N	\N	EFO	4	EFO	disease	Endomyocardial fibroelastosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2022	"" []	3185541	\N	\N	EFO	5	EFO	disease	Endomyocardial fibroelastosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2022	"" []	4393063	\N	\N	EFO	6	EFO	disposition	Endomyocardial fibroelastosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2022	"" []	5181883	\N	\N	EFO	7	EFO	material property	Endomyocardial fibroelastosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2022	"" []	5997259	\N	\N	EFO	8	EFO	experimental factor	Endomyocardial fibroelastosis
Orphanet:2024	\N	\N	"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." []	Orphanet:2024	"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." []	74355	\N	\N	EFO	0	EFO	Hereditary gingival fibromatosis	Hereditary gingival fibromatosis
Orphanet:164001	Orphanet:2024	\N	"" []	Orphanet:2024	"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." []	216231	\N	\N	EFO	1	EFO	Rare odontal or periodontal disorder	Hereditary gingival fibromatosis
Orphanet:183580	Orphanet:2024	\N	"" []	Orphanet:2024	"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." []	216232	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Hereditary gingival fibromatosis
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:2024	"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." []	570604	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Hereditary gingival fibromatosis
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2024	"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." []	570605	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hereditary gingival fibromatosis
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2024	"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." []	1152605	\N	\N	EFO	3	EFO	genetic disorder	Hereditary gingival fibromatosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2024	"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." []	1152606	\N	\N	EFO	3	EFO	genetic disorder	Hereditary gingival fibromatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2024	"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." []	2035083	\N	\N	EFO	4	EFO	disease	Hereditary gingival fibromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2024	"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." []	3185543	\N	\N	EFO	5	EFO	disposition	Hereditary gingival fibromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2024	"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." []	4393065	\N	\N	EFO	6	EFO	material property	Hereditary gingival fibromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2024	"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." []	5411620	\N	\N	EFO	7	EFO	experimental factor	Hereditary gingival fibromatosis
Orphanet:2025	\N	\N	"Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." []	Orphanet:2025	"Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." []	74356	\N	\N	EFO	0	EFO	Gingival fibromatosis - facial dysmorphism	Gingival fibromatosis - facial dysmorphism
Orphanet:183580	Orphanet:2025	\N	"" []	Orphanet:2025	"Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." []	216233	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Gingival fibromatosis - facial dysmorphism
Orphanet:330206	Orphanet:2025	\N	"" []	Orphanet:2025	"Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." []	216234	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Gingival fibromatosis - facial dysmorphism
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2025	"Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." []	570606	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Gingival fibromatosis - facial dysmorphism
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2025	"Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." []	570607	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Gingival fibromatosis - facial dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2025	"Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." []	2035085	\N	\N	EFO	4	EFO	genetic disorder	Gingival fibromatosis - facial dysmorphism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2025	"Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." []	1152608	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Gingival fibromatosis - facial dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2025	"Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." []	3000183	\N	\N	EFO	5	EFO	disease	Gingival fibromatosis - facial dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2025	"Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." []	4133466	\N	\N	EFO	6	EFO	disposition	Gingival fibromatosis - facial dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2025	"Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." []	5181884	\N	\N	EFO	7	EFO	material property	Gingival fibromatosis - facial dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2025	"Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." []	5997260	\N	\N	EFO	8	EFO	experimental factor	Gingival fibromatosis - facial dysmorphism
Orphanet:2026	\N	\N	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	74357	\N	\N	EFO	0	EFO	Gingival fibromatosis-hypertrichosis syndrome	Gingival fibromatosis-hypertrichosis syndrome
Orphanet:183580	Orphanet:2026	\N	"" []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	216235	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Gingival fibromatosis-hypertrichosis syndrome
Orphanet:79365	Orphanet:2026	\N	"" []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	216236	\N	\N	EFO	1	EFO	Hypertrichosis	Gingival fibromatosis-hypertrichosis syndrome
Orphanet:79373	Orphanet:2026	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	216237	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Gingival fibromatosis-hypertrichosis syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	570608	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Gingival fibromatosis-hypertrichosis syndrome
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	570609	\N	\N	EFO	2	EFO	Genetic hair anomaly	Gingival fibromatosis-hypertrichosis syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	570610	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Gingival fibromatosis-hypertrichosis syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	570611	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Gingival fibromatosis-hypertrichosis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	2035088	\N	\N	EFO	4	EFO	genetic disorder	Gingival fibromatosis-hypertrichosis syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	1152610	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Gingival fibromatosis-hypertrichosis syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	1152611	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Gingival fibromatosis-hypertrichosis syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	2035087	\N	\N	EFO	4	EFO	Rare genetic skin disease	Gingival fibromatosis-hypertrichosis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	4133468	\N	\N	EFO	6	EFO	disease	Gingival fibromatosis-hypertrichosis syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	3000185	\N	\N	EFO	5	EFO	genetic disorder	Gingival fibromatosis-hypertrichosis syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	3000186	\N	\N	EFO	5	EFO	skin disease	Gingival fibromatosis-hypertrichosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	5059715	\N	\N	EFO	7	EFO	disposition	Gingival fibromatosis-hypertrichosis syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	4133469	\N	\N	EFO	6	EFO	disease	Gingival fibromatosis-hypertrichosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	5876921	\N	\N	EFO	8	EFO	material property	Gingival fibromatosis-hypertrichosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2026	"Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." []	6470126	\N	\N	EFO	9	EFO	experimental factor	Gingival fibromatosis-hypertrichosis syndrome
Orphanet:2027	\N	\N	"" []	Orphanet:2027	"" []	74358	\N	\N	EFO	0	EFO	Gingival fibromatosis - progressive deafness	Gingival fibromatosis - progressive deafness
Orphanet:183580	Orphanet:2027	\N	"" []	Orphanet:2027	"" []	216238	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Gingival fibromatosis - progressive deafness
Orphanet:90642	Orphanet:2027	\N	"" []	Orphanet:2027	"" []	216239	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Gingival fibromatosis - progressive deafness
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2027	"" []	570612	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Gingival fibromatosis - progressive deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2027	"" []	570613	\N	\N	EFO	2	EFO	Rare genetic deafness	Gingival fibromatosis - progressive deafness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2027	"" []	1152613	\N	\N	EFO	3	EFO	genetic disorder	Gingival fibromatosis - progressive deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2027	"" []	1152614	\N	\N	EFO	3	EFO	genetic disorder	Gingival fibromatosis - progressive deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2027	"" []	1152615	\N	\N	EFO	3	EFO	auditory system disease	Gingival fibromatosis - progressive deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2027	"" []	2035091	\N	\N	EFO	4	EFO	disease	Gingival fibromatosis - progressive deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2027	"" []	2035092	\N	\N	EFO	4	EFO	sensory system disease	Gingival fibromatosis - progressive deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2027	"" []	5411624	\N	\N	EFO	7	EFO	disposition	Gingival fibromatosis - progressive deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2027	"" []	3185548	\N	\N	EFO	5	EFO	nervous system disease	Gingival fibromatosis - progressive deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2027	"" []	5876922	\N	\N	EFO	8	EFO	material property	Gingival fibromatosis - progressive deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2027	"" []	4393069	\N	\N	EFO	6	EFO	disease	Gingival fibromatosis - progressive deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2027	"" []	6470127	\N	\N	EFO	9	EFO	experimental factor	Gingival fibromatosis - progressive deafness
Orphanet:2028	\N	\N	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	74359	\N	\N	EFO	0	EFO	Juvenile hyaline fibromatosis	Juvenile hyaline fibromatosis
Orphanet:183472	Orphanet:2028	\N	"" []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	216240	\N	\N	EFO	1	EFO	Genetic dermis disorder	Juvenile hyaline fibromatosis
Orphanet:183580	Orphanet:2028	\N	"" []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	216241	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Juvenile hyaline fibromatosis
Orphanet:93449	Orphanet:2028	\N	"" []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	216242	\N	\N	EFO	1	EFO	Primary osteolysis	Juvenile hyaline fibromatosis
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	570614	\N	\N	EFO	2	EFO	Rare genetic skin disease	Juvenile hyaline fibromatosis
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	570615	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Juvenile hyaline fibromatosis
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	570616	\N	\N	EFO	2	EFO	Primary bone dysplasia	Juvenile hyaline fibromatosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	1152616	\N	\N	EFO	3	EFO	genetic disorder	Juvenile hyaline fibromatosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	1152617	\N	\N	EFO	3	EFO	skin disease	Juvenile hyaline fibromatosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	3185552	\N	\N	EFO	5	EFO	genetic disorder	Juvenile hyaline fibromatosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	1152619	\N	\N	EFO	3	EFO	Rare genetic bone disease	Juvenile hyaline fibromatosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	1152620	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Juvenile hyaline fibromatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	4066874	\N	\N	EFO	6	EFO	disease	Juvenile hyaline fibromatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	2035094	\N	\N	EFO	4	EFO	disease	Juvenile hyaline fibromatosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	2035095	\N	\N	EFO	4	EFO	genetic disorder	Juvenile hyaline fibromatosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	2035096	\N	\N	EFO	4	EFO	bone disease	Juvenile hyaline fibromatosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	2035097	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Juvenile hyaline fibromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	5059716	\N	\N	EFO	7	EFO	disposition	Juvenile hyaline fibromatosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	3185551	\N	\N	EFO	5	EFO	skeletal system disease	Juvenile hyaline fibromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	5876923	\N	\N	EFO	8	EFO	material property	Juvenile hyaline fibromatosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	4393071	\N	\N	EFO	6	EFO	disease	Juvenile hyaline fibromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2028	"Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." []	6470128	\N	\N	EFO	9	EFO	experimental factor	Juvenile hyaline fibromatosis
Orphanet:2029	\N	\N	"" []	Orphanet:2029	"" []	74360	\N	\N	EFO	0	EFO	Multiple non-ossifying fibromatosis	Multiple non-ossifying fibromatosis
Orphanet:93450	Orphanet:2029	\N	"" []	Orphanet:2029	"" []	216243	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Multiple non-ossifying fibromatosis
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:2029	"" []	570617	\N	\N	EFO	2	EFO	Primary bone dysplasia	Multiple non-ossifying fibromatosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2029	"" []	1152621	\N	\N	EFO	3	EFO	Rare genetic bone disease	Multiple non-ossifying fibromatosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2029	"" []	1152622	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Multiple non-ossifying fibromatosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2029	"" []	2035098	\N	\N	EFO	4	EFO	genetic disorder	Multiple non-ossifying fibromatosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2029	"" []	2035099	\N	\N	EFO	4	EFO	bone disease	Multiple non-ossifying fibromatosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2029	"" []	2035100	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Multiple non-ossifying fibromatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2029	"" []	4393074	\N	\N	EFO	6	EFO	disease	Multiple non-ossifying fibromatosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2029	"" []	3185554	\N	\N	EFO	5	EFO	skeletal system disease	Multiple non-ossifying fibromatosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2029	"" []	3185555	\N	\N	EFO	5	EFO	genetic disorder	Multiple non-ossifying fibromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2029	"" []	5181887	\N	\N	EFO	7	EFO	disposition	Multiple non-ossifying fibromatosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2029	"" []	4393073	\N	\N	EFO	6	EFO	disease	Multiple non-ossifying fibromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2029	"" []	5997263	\N	\N	EFO	8	EFO	material property	Multiple non-ossifying fibromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2029	"" []	6550745	\N	\N	EFO	9	EFO	experimental factor	Multiple non-ossifying fibromatosis
Orphanet:202940	\N	\N	"" []	Orphanet:202940	"" []	74361	\N	\N	EFO	0	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Anomaly of puberty or/and menstrual cycle of genetic origin
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:202940	"" []	216244	\N	\N	EFO	1	EFO	Rare genetic gynecological and obstetrical diseases	Anomaly of puberty or/and menstrual cycle of genetic origin
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:202940	"" []	570618	\N	\N	EFO	2	EFO	genetic disorder	Anomaly of puberty or/and menstrual cycle of genetic origin
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:202940	"" []	570619	\N	\N	EFO	2	EFO	reproductive system disease	Anomaly of puberty or/and menstrual cycle of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:202940	"" []	1152623	\N	\N	EFO	3	EFO	disease	Anomaly of puberty or/and menstrual cycle of genetic origin
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:202940	"" []	1152624	\N	\N	EFO	3	EFO	disease	Anomaly of puberty or/and menstrual cycle of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:202940	"" []	2035101	\N	\N	EFO	4	EFO	disposition	Anomaly of puberty or/and menstrual cycle of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:202940	"" []	3185556	\N	\N	EFO	5	EFO	material property	Anomaly of puberty or/and menstrual cycle of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:202940	"" []	4393075	\N	\N	EFO	6	EFO	experimental factor	Anomaly of puberty or/and menstrual cycle of genetic origin
Orphanet:202948	\N	\N	"" []	Orphanet:202948	"" []	74362	\N	\N	EFO	0	EFO	Syndromic microphthalmia	Syndromic microphthalmia
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:202948	"" []	216245	\N	\N	EFO	1	EFO	Anophthalmia - microphthalmia	Syndromic microphthalmia
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:202948	"" []	570620	\N	\N	EFO	2	EFO	Major induction processes eye anomaly	Syndromic microphthalmia
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:202948	"" []	1152625	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Syndromic microphthalmia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:202948	"" []	2035102	\N	\N	EFO	4	EFO	Rare genetic eye disease	Syndromic microphthalmia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:202948	"" []	2035103	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Syndromic microphthalmia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:202948	"" []	3185557	\N	\N	EFO	5	EFO	genetic disorder	Syndromic microphthalmia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:202948	"" []	3185558	\N	\N	EFO	5	EFO	eye disease	Syndromic microphthalmia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:202948	"" []	3185559	\N	\N	EFO	5	EFO	genetic disorder	Syndromic microphthalmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:202948	"" []	4393076	\N	\N	EFO	6	EFO	disease	Syndromic microphthalmia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:202948	"" []	4393077	\N	\N	EFO	6	EFO	disease	Syndromic microphthalmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:202948	"" []	5411627	\N	\N	EFO	7	EFO	disposition	Syndromic microphthalmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:202948	"" []	6148841	\N	\N	EFO	8	EFO	material property	Syndromic microphthalmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:202948	"" []	6632407	\N	\N	EFO	9	EFO	experimental factor	Syndromic microphthalmia
Orphanet:2031	\N	\N	"" []	Orphanet:2031	"" []	74363	\N	\N	EFO	0	EFO	Hepatic fibrosis - renal cysts - intellectual disability	Hepatic fibrosis - renal cysts - intellectual disability
Orphanet:156604	Orphanet:2031	\N	"" []	Orphanet:2031	"" []	216246	\N	\N	EFO	1	EFO	Genetic parenchymatous liver disease	Hepatic fibrosis - renal cysts - intellectual disability
Orphanet:183763	Orphanet:2031	\N	"" []	Orphanet:2031	"" []	216247	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hepatic fibrosis - renal cysts - intellectual disability
Orphanet:93587	Orphanet:2031	\N	"" []	Orphanet:2031	"" []	216248	\N	\N	EFO	1	EFO	Familial cystic renal disease	Hepatic fibrosis - renal cysts - intellectual disability
Orphanet:156601	Orphanet:156604	\N	"" []	Orphanet:2031	"" []	570621	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Hepatic fibrosis - renal cysts - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2031	"" []	570622	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hepatic fibrosis - renal cysts - intellectual disability
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:2031	"" []	570623	\N	\N	EFO	2	EFO	kidney disease	Hepatic fibrosis - renal cysts - intellectual disability
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:2031	"" []	570624	\N	\N	EFO	2	EFO	Rare genetic renal disease	Hepatic fibrosis - renal cysts - intellectual disability
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2031	"" []	1152626	\N	\N	EFO	3	EFO	digestive system disease	Hepatic fibrosis - renal cysts - intellectual disability
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2031	"" []	1152627	\N	\N	EFO	3	EFO	genetic disorder	Hepatic fibrosis - renal cysts - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2031	"" []	1152628	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hepatic fibrosis - renal cysts - intellectual disability
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2031	"" []	1152629	\N	\N	EFO	3	EFO	disease	Hepatic fibrosis - renal cysts - intellectual disability
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2031	"" []	1152630	\N	\N	EFO	3	EFO	genetic disorder	Hepatic fibrosis - renal cysts - intellectual disability
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2031	"" []	2035104	\N	\N	EFO	4	EFO	disease	Hepatic fibrosis - renal cysts - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2031	"" []	3185561	\N	\N	EFO	5	EFO	disease	Hepatic fibrosis - renal cysts - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2031	"" []	2035106	\N	\N	EFO	4	EFO	genetic disorder	Hepatic fibrosis - renal cysts - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2031	"" []	4133471	\N	\N	EFO	6	EFO	disposition	Hepatic fibrosis - renal cysts - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2031	"" []	5059717	\N	\N	EFO	7	EFO	material property	Hepatic fibrosis - renal cysts - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2031	"" []	5876924	\N	\N	EFO	8	EFO	experimental factor	Hepatic fibrosis - renal cysts - intellectual disability
Orphanet:2036	\N	\N	"" []	Orphanet:2036	"" []	74364	\N	\N	EFO	0	EFO	Scalp-ear-nipple syndrome	Scalp-ear-nipple syndrome
Orphanet:183481	Orphanet:2036	\N	"" []	Orphanet:2036	"" []	216249	\N	\N	EFO	1	EFO	Genetic mixed dermis disorder	Scalp-ear-nipple syndrome
Orphanet:330206	Orphanet:2036	\N	"" []	Orphanet:2036	"" []	216250	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Scalp-ear-nipple syndrome
Orphanet:79373	Orphanet:2036	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2036	"" []	216251	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Scalp-ear-nipple syndrome
Orphanet:183472	Orphanet:183481	\N	"" []	Orphanet:2036	"" []	570625	\N	\N	EFO	2	EFO	Genetic dermis disorder	Scalp-ear-nipple syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2036	"" []	570626	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Scalp-ear-nipple syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2036	"" []	570627	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Scalp-ear-nipple syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2036	"" []	570628	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Scalp-ear-nipple syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2036	"" []	1152631	\N	\N	EFO	3	EFO	Rare genetic skin disease	Scalp-ear-nipple syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2036	"" []	1152632	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Scalp-ear-nipple syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2036	"" []	1152633	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Scalp-ear-nipple syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2036	"" []	1152634	\N	\N	EFO	3	EFO	Rare genetic skin disease	Scalp-ear-nipple syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2036	"" []	2035108	\N	\N	EFO	4	EFO	genetic disorder	Scalp-ear-nipple syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2036	"" []	2035109	\N	\N	EFO	4	EFO	skin disease	Scalp-ear-nipple syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2036	"" []	2035110	\N	\N	EFO	4	EFO	genetic disorder	Scalp-ear-nipple syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2036	"" []	3185563	\N	\N	EFO	5	EFO	disease	Scalp-ear-nipple syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2036	"" []	3185564	\N	\N	EFO	5	EFO	disease	Scalp-ear-nipple syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2036	"" []	4393079	\N	\N	EFO	6	EFO	disposition	Scalp-ear-nipple syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2036	"" []	5411628	\N	\N	EFO	7	EFO	material property	Scalp-ear-nipple syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2036	"" []	6148842	\N	\N	EFO	8	EFO	experimental factor	Scalp-ear-nipple syndrome
Orphanet:2042	\N	\N	"" []	Orphanet:2042	"" []	74365	\N	\N	EFO	0	EFO	Tracheo-esophageal fistula - hypospadias	Tracheo-esophageal fistula - hypospadias
Orphanet:108993	Orphanet:2042	\N	"" []	Orphanet:2042	"" []	216252	\N	\N	EFO	1	EFO	Non-syndromic respiratory or mediastinal malformation	Tracheo-esophageal fistula - hypospadias
Orphanet:156249	Orphanet:2042	\N	"" []	Orphanet:2042	"" []	216253	\N	\N	EFO	1	EFO	Larynx anomaly	Tracheo-esophageal fistula - hypospadias
Orphanet:156252	Orphanet:2042	\N	"" []	Orphanet:2042	"" []	216254	\N	\N	EFO	1	EFO	Tracheal anomaly	Tracheo-esophageal fistula - hypospadias
Orphanet:165707	Orphanet:2042	\N	"" []	Orphanet:2042	"" []	216255	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Tracheo-esophageal fistula - hypospadias
Orphanet:183622	Orphanet:2042	\N	"" []	Orphanet:2042	"" []	216256	\N	\N	EFO	1	EFO	Genetic respiratory malformation	Tracheo-esophageal fistula - hypospadias
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:2042	"" []	570629	\N	\N	EFO	2	EFO	Genetic respiratory or mediastinal malformation	Tracheo-esophageal fistula - hypospadias
Orphanet:96333	Orphanet:156249	\N	"" []	Orphanet:2042	"" []	570630	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Tracheo-esophageal fistula - hypospadias
Orphanet:96333	Orphanet:156252	\N	"" []	Orphanet:2042	"" []	570631	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Tracheo-esophageal fistula - hypospadias
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2042	"" []	570632	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Tracheo-esophageal fistula - hypospadias
Orphanet:156610	Orphanet:183622	\N	"" []	Orphanet:2042	"" []	570633	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Tracheo-esophageal fistula - hypospadias
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2042	"" []	1152635	\N	\N	EFO	3	EFO	respiratory system disease	Tracheo-esophageal fistula - hypospadias
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:2042	"" []	1152636	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Tracheo-esophageal fistula - hypospadias
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2042	"" []	1152637	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Tracheo-esophageal fistula - hypospadias
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2042	"" []	1152638	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Tracheo-esophageal fistula - hypospadias
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2042	"" []	1152639	\N	\N	EFO	3	EFO	genetic disorder	Tracheo-esophageal fistula - hypospadias
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2042	"" []	1152640	\N	\N	EFO	3	EFO	respiratory system disease	Tracheo-esophageal fistula - hypospadias
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2042	"" []	2035111	\N	\N	EFO	4	EFO	disease	Tracheo-esophageal fistula - hypospadias
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2042	"" []	3185567	\N	\N	EFO	5	EFO	genetic disorder	Tracheo-esophageal fistula - hypospadias
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2042	"" []	2035113	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Tracheo-esophageal fistula - hypospadias
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2042	"" []	2035114	\N	\N	EFO	4	EFO	genetic disorder	Tracheo-esophageal fistula - hypospadias
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2042	"" []	4133473	\N	\N	EFO	6	EFO	disease	Tracheo-esophageal fistula - hypospadias
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2042	"" []	5059718	\N	\N	EFO	7	EFO	disposition	Tracheo-esophageal fistula - hypospadias
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2042	"" []	5876925	\N	\N	EFO	8	EFO	material property	Tracheo-esophageal fistula - hypospadias
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2042	"" []	6470129	\N	\N	EFO	9	EFO	experimental factor	Tracheo-esophageal fistula - hypospadias
Orphanet:2044	\N	\N	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	74366	\N	\N	EFO	0	EFO	Floating-Harbor syndrome	Floating-Harbor syndrome
Orphanet:102283	Orphanet:2044	\N	"" []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	216257	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Floating-Harbor syndrome
Orphanet:183570	Orphanet:2044	\N	"" []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	216258	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Floating-Harbor syndrome
Orphanet:183763	Orphanet:2044	\N	"" []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	216259	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Floating-Harbor syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	570634	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Floating-Harbor syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	570635	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Floating-Harbor syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	570636	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Floating-Harbor syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	1152641	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Floating-Harbor syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	2035116	\N	\N	EFO	4	EFO	genetic disorder	Floating-Harbor syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	1152643	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Floating-Harbor syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	3000187	\N	\N	EFO	5	EFO	disease	Floating-Harbor syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	2035118	\N	\N	EFO	4	EFO	genetic disorder	Floating-Harbor syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	4133475	\N	\N	EFO	6	EFO	disposition	Floating-Harbor syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	5181890	\N	\N	EFO	7	EFO	material property	Floating-Harbor syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2044	"Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." []	5997265	\N	\N	EFO	8	EFO	experimental factor	Floating-Harbor syndrome
Orphanet:2045	\N	\N	"" []	Orphanet:2045	"" []	74367	\N	\N	EFO	0	EFO	FLOTCH syndrome	FLOTCH syndrome
Orphanet:79370	Orphanet:2045	\N	"" []	Orphanet:2045	"" []	216260	\N	\N	EFO	1	EFO	Syndromic nail anomaly	FLOTCH syndrome
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:2045	"" []	570637	\N	\N	EFO	2	EFO	Genetic nail anomaly	FLOTCH syndrome
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:2045	"" []	1152644	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	FLOTCH syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2045	"" []	2035119	\N	\N	EFO	4	EFO	Rare genetic skin disease	FLOTCH syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2045	"" []	3185569	\N	\N	EFO	5	EFO	genetic disorder	FLOTCH syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2045	"" []	3185570	\N	\N	EFO	5	EFO	skin disease	FLOTCH syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2045	"" []	4393082	\N	\N	EFO	6	EFO	disease	FLOTCH syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2045	"" []	4393083	\N	\N	EFO	6	EFO	disease	FLOTCH syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2045	"" []	5411631	\N	\N	EFO	7	EFO	disposition	FLOTCH syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2045	"" []	6148843	\N	\N	EFO	8	EFO	material property	FLOTCH syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2045	"" []	6632408	\N	\N	EFO	9	EFO	experimental factor	FLOTCH syndrome
Orphanet:2047	\N	\N	"" []	Orphanet:2047	"" []	74368	\N	\N	EFO	0	EFO	Flynn-Aird syndrome	Flynn-Aird syndrome
Orphanet:71859	Orphanet:2047	\N	"" []	Orphanet:2047	"" []	216261	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Flynn-Aird syndrome
Orphanet:79389	Orphanet:2047	\N	"" []	Orphanet:2047	"" []	216262	\N	\N	EFO	1	EFO	Premature aging	Flynn-Aird syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2047	"" []	570638	\N	\N	EFO	2	EFO	genetic disorder	Flynn-Aird syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:2047	"" []	570639	\N	\N	EFO	2	EFO	Rare genetic skin disease	Flynn-Aird syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2047	"" []	2035121	\N	\N	EFO	4	EFO	disease	Flynn-Aird syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2047	"" []	1152646	\N	\N	EFO	3	EFO	genetic disorder	Flynn-Aird syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2047	"" []	1152647	\N	\N	EFO	3	EFO	skin disease	Flynn-Aird syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2047	"" []	3000188	\N	\N	EFO	5	EFO	disposition	Flynn-Aird syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2047	"" []	2035122	\N	\N	EFO	4	EFO	disease	Flynn-Aird syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2047	"" []	4133476	\N	\N	EFO	6	EFO	material property	Flynn-Aird syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2047	"" []	5181891	\N	\N	EFO	7	EFO	experimental factor	Flynn-Aird syndrome
Orphanet:205	\N	\N	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	74369	\N	\N	EFO	0	EFO	Crigler-Najjar syndrome	Crigler-Najjar syndrome
Orphanet:101940	Orphanet:205	\N	"" []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	216263	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Crigler-Najjar syndrome
Orphanet:309816	Orphanet:205	\N	"" []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	216264	\N	\N	EFO	1	EFO	Disorder of bilirubin metabolism and excretion	Crigler-Najjar syndrome
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	570640	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Crigler-Najjar syndrome
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	570641	\N	\N	EFO	2	EFO	Disorder of porphyrin and haem metabolism	Crigler-Najjar syndrome
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	1152648	\N	\N	EFO	3	EFO	digestive system disease	Crigler-Najjar syndrome
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	1152649	\N	\N	EFO	3	EFO	genetic disorder	Crigler-Najjar syndrome
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	1152650	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Crigler-Najjar syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	2035123	\N	\N	EFO	4	EFO	disease	Crigler-Najjar syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	3185573	\N	\N	EFO	5	EFO	disease	Crigler-Najjar syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	2035125	\N	\N	EFO	4	EFO	genetic disorder	Crigler-Najjar syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	2035126	\N	\N	EFO	4	EFO	metabolic disease	Crigler-Najjar syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	4133477	\N	\N	EFO	6	EFO	disposition	Crigler-Najjar syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	3185574	\N	\N	EFO	5	EFO	disease	Crigler-Najjar syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	5181892	\N	\N	EFO	7	EFO	material property	Crigler-Najjar syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:205	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	5997266	\N	\N	EFO	8	EFO	experimental factor	Crigler-Najjar syndrome
Orphanet:2050	\N	\N	"" []	Orphanet:2050	"" []	74370	\N	\N	EFO	0	EFO	Cole-Carpenter syndrome	Cole-Carpenter syndrome
Orphanet:330206	Orphanet:2050	\N	"" []	Orphanet:2050	"" []	216265	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Cole-Carpenter syndrome
Orphanet:93446	Orphanet:2050	\N	"" []	Orphanet:2050	"" []	216266	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Cole-Carpenter syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2050	"" []	570642	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cole-Carpenter syndrome
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:2050	"" []	570643	\N	\N	EFO	2	EFO	Primary bone dysplasia	Cole-Carpenter syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2050	"" []	1152651	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cole-Carpenter syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2050	"" []	1152652	\N	\N	EFO	3	EFO	Rare genetic bone disease	Cole-Carpenter syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2050	"" []	1152653	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Cole-Carpenter syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2050	"" []	3185577	\N	\N	EFO	5	EFO	genetic disorder	Cole-Carpenter syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2050	"" []	2035128	\N	\N	EFO	4	EFO	genetic disorder	Cole-Carpenter syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2050	"" []	2035129	\N	\N	EFO	4	EFO	bone disease	Cole-Carpenter syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2050	"" []	2035130	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cole-Carpenter syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2050	"" []	4133478	\N	\N	EFO	6	EFO	disease	Cole-Carpenter syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2050	"" []	3185576	\N	\N	EFO	5	EFO	skeletal system disease	Cole-Carpenter syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2050	"" []	5181893	\N	\N	EFO	7	EFO	disposition	Cole-Carpenter syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2050	"" []	4393087	\N	\N	EFO	6	EFO	disease	Cole-Carpenter syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2050	"" []	5997267	\N	\N	EFO	8	EFO	material property	Cole-Carpenter syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2050	"" []	6550746	\N	\N	EFO	9	EFO	experimental factor	Cole-Carpenter syndrome
Orphanet:2052	\N	\N	"" []	Orphanet:2052	"" []	74371	\N	\N	EFO	0	EFO	Fraser syndrome	Fraser syndrome
Orphanet:108987	Orphanet:2052	\N	"" []	Orphanet:2052	"" []	216267	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Fraser syndrome
Orphanet:117573	Orphanet:2052	\N	"" []	Orphanet:2052	"" []	216268	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Fraser syndrome
Orphanet:330206	Orphanet:2052	\N	"" []	Orphanet:2052	"" []	216269	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Fraser syndrome
Orphanet:90642	Orphanet:2052	\N	"" []	Orphanet:2052	"" []	216270	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Fraser syndrome
Orphanet:93547	Orphanet:2052	\N	"" []	Orphanet:2052	"" []	216271	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Fraser syndrome
Orphanet:98562	Orphanet:2052	\N	"" []	Orphanet:2052	"" []	216272	\N	\N	EFO	1	EFO	Cryptophthalmia	Fraser syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2052	"" []	570644	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Fraser syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:2052	"" []	570645	\N	\N	EFO	2	EFO	Anorectal malformation	Fraser syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2052	"" []	570646	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Fraser syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2052	"" []	570647	\N	\N	EFO	2	EFO	Rare genetic deafness	Fraser syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2052	"" []	570648	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Fraser syndrome
Orphanet:98561	Orphanet:98562	\N	"" []	Orphanet:2052	"" []	570649	\N	\N	EFO	2	EFO	Eyelid malformation	Fraser syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2052	"" []	1152654	\N	\N	EFO	3	EFO	Rare genetic eye disease	Fraser syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2052	"" []	1152655	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fraser syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:2052	"" []	1152656	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Fraser syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2052	"" []	1152657	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fraser syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2052	"" []	1152658	\N	\N	EFO	3	EFO	genetic disorder	Fraser syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2052	"" []	1152659	\N	\N	EFO	3	EFO	auditory system disease	Fraser syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2052	"" []	1152660	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fraser syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2052	"" []	1152661	\N	\N	EFO	3	EFO	Rare genetic renal disease	Fraser syndrome
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:2052	"" []	1152662	\N	\N	EFO	3	EFO	Rare palpebral disease	Fraser syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2052	"" []	4393090	\N	\N	EFO	6	EFO	genetic disorder	Fraser syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2052	"" []	4393091	\N	\N	EFO	6	EFO	eye disease	Fraser syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2052	"" []	3185580	\N	\N	EFO	5	EFO	genetic disorder	Fraser syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2052	"" []	2035134	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Fraser syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2052	"" []	5059719	\N	\N	EFO	7	EFO	disease	Fraser syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2052	"" []	2035136	\N	\N	EFO	4	EFO	sensory system disease	Fraser syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2052	"" []	2035137	\N	\N	EFO	4	EFO	genetic disorder	Fraser syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2052	"" []	2035138	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Fraser syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2052	"" []	5059720	\N	\N	EFO	7	EFO	disease	Fraser syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2052	"" []	5817537	\N	\N	EFO	8	EFO	disposition	Fraser syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2052	"" []	3185582	\N	\N	EFO	5	EFO	nervous system disease	Fraser syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2052	"" []	3185583	\N	\N	EFO	5	EFO	Rare genetic eye disease	Fraser syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2052	"" []	6409911	\N	\N	EFO	9	EFO	material property	Fraser syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2052	"" []	4393089	\N	\N	EFO	6	EFO	disease	Fraser syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2052	"" []	6807756	\N	\N	EFO	10	EFO	experimental factor	Fraser syndrome
Orphanet:2053	\N	\N	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	74372	\N	\N	EFO	0	EFO	Freeman-Sheldon syndrome	Freeman-Sheldon syndrome
Orphanet:330206	Orphanet:2053	\N	"" []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	216273	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Freeman-Sheldon syndrome
Orphanet:97120	Orphanet:2053	\N	"" []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	216274	\N	\N	EFO	1	EFO	Distal arthrogryposis	Freeman-Sheldon syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	570650	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Freeman-Sheldon syndrome
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	570651	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Freeman-Sheldon syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	1152663	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Freeman-Sheldon syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	1152664	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Freeman-Sheldon syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	4393093	\N	\N	EFO	6	EFO	genetic disorder	Freeman-Sheldon syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	2035140	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Freeman-Sheldon syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	5059722	\N	\N	EFO	7	EFO	disease	Freeman-Sheldon syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	3185585	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Freeman-Sheldon syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	5876927	\N	\N	EFO	8	EFO	disposition	Freeman-Sheldon syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	6470131	\N	\N	EFO	9	EFO	material property	Freeman-Sheldon syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2053	"Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." []	6848369	\N	\N	EFO	10	EFO	experimental factor	Freeman-Sheldon syndrome
Orphanet:2056	\N	\N	"" []	Orphanet:2056	"" []	74373	\N	\N	EFO	0	EFO	Essential fructosuria	Essential fructosuria
Orphanet:308463	Orphanet:2056	\N	"" []	Orphanet:2056	"" []	216275	\N	\N	EFO	1	EFO	Disorder of fructose metabolism	Essential fructosuria
Orphanet:79161	Orphanet:308463	\N	"" []	Orphanet:2056	"" []	570652	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Essential fructosuria
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:2056	"" []	1152665	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Essential fructosuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2056	"" []	2035141	\N	\N	EFO	4	EFO	genetic disorder	Essential fructosuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2056	"" []	2035142	\N	\N	EFO	4	EFO	metabolic disease	Essential fructosuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2056	"" []	3185586	\N	\N	EFO	5	EFO	disease	Essential fructosuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2056	"" []	3185587	\N	\N	EFO	5	EFO	disease	Essential fructosuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2056	"" []	4393094	\N	\N	EFO	6	EFO	disposition	Essential fructosuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2056	"" []	5411636	\N	\N	EFO	7	EFO	material property	Essential fructosuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2056	"" []	6148846	\N	\N	EFO	8	EFO	experimental factor	Essential fructosuria
Orphanet:2057	\N	\N	"" []	Orphanet:2057	"" []	74374	\N	\N	EFO	0	EFO	Blepharophimosis - ptosis - esotropia - syndactyly - short stature	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:108987	Orphanet:2057	\N	"" []	Orphanet:2057	"" []	216276	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:330206	Orphanet:2057	\N	"" []	Orphanet:2057	"" []	216277	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:98578	Orphanet:2057	\N	"" []	Orphanet:2057	"" []	216278	\N	\N	EFO	1	EFO	Ptosis	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2057	"" []	570653	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2057	"" []	570654	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:2057	"" []	570655	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2057	"" []	1152666	\N	\N	EFO	3	EFO	Rare genetic eye disease	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2057	"" []	1152667	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2057	"" []	1152668	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:2057	"" []	1152669	\N	\N	EFO	3	EFO	Rare palpebral disease	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2057	"" []	4393096	\N	\N	EFO	6	EFO	genetic disorder	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2057	"" []	4393097	\N	\N	EFO	6	EFO	eye disease	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2057	"" []	2035145	\N	\N	EFO	4	EFO	genetic disorder	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2057	"" []	2035146	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2057	"" []	5059723	\N	\N	EFO	7	EFO	disease	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2057	"" []	5059724	\N	\N	EFO	7	EFO	disease	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2057	"" []	3185590	\N	\N	EFO	5	EFO	Rare genetic eye disease	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2057	"" []	5876928	\N	\N	EFO	8	EFO	disposition	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2057	"" []	6470132	\N	\N	EFO	9	EFO	material property	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2057	"" []	6848370	\N	\N	EFO	10	EFO	experimental factor	Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Orphanet:2059	\N	\N	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	74375	\N	\N	EFO	0	EFO	Fryns syndrome	Fryns syndrome
Orphanet:102283	Orphanet:2059	\N	"" []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	216279	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Fryns syndrome
Orphanet:139039	Orphanet:2059	\N	"" []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	216280	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Fryns syndrome
Orphanet:183763	Orphanet:2059	\N	"" []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	216281	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Fryns syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	570656	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Fryns syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	570657	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Fryns syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	570658	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Fryns syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	1152670	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fryns syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	1152671	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Fryns syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	1152672	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Fryns syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	4393099	\N	\N	EFO	6	EFO	genetic disorder	Fryns syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	2035148	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Fryns syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	2035149	\N	\N	EFO	4	EFO	genetic disorder	Fryns syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	5059725	\N	\N	EFO	7	EFO	disease	Fryns syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	3185592	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Fryns syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	5876929	\N	\N	EFO	8	EFO	disposition	Fryns syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	6470133	\N	\N	EFO	9	EFO	material property	Fryns syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2059	"Fryns syndrome is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH; see this term), small thorax with widely, spaced hypoplastic nipples, pulmonary hypoplasia, and distal limb hypoplasia in addition to a variable expression of additional anomalies." []	6848371	\N	\N	EFO	10	EFO	experimental factor	Fryns syndrome
Orphanet:2062	\N	\N	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	74376	\N	\N	EFO	0	EFO	Progressive non-infectious anterior vertebral fusion	Progressive non-infectious anterior vertebral fusion
Orphanet:93454	Orphanet:2062	\N	"" []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	216282	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Progressive non-infectious anterior vertebral fusion
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	570659	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Progressive non-infectious anterior vertebral fusion
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	1152673	\N	\N	EFO	3	EFO	Rare genetic bone disease	Progressive non-infectious anterior vertebral fusion
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	1152674	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Progressive non-infectious anterior vertebral fusion
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	2035150	\N	\N	EFO	4	EFO	genetic disorder	Progressive non-infectious anterior vertebral fusion
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	2035151	\N	\N	EFO	4	EFO	bone disease	Progressive non-infectious anterior vertebral fusion
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	2035152	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Progressive non-infectious anterior vertebral fusion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	4393102	\N	\N	EFO	6	EFO	disease	Progressive non-infectious anterior vertebral fusion
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	3185594	\N	\N	EFO	5	EFO	skeletal system disease	Progressive non-infectious anterior vertebral fusion
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	3185595	\N	\N	EFO	5	EFO	genetic disorder	Progressive non-infectious anterior vertebral fusion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	5181895	\N	\N	EFO	7	EFO	disposition	Progressive non-infectious anterior vertebral fusion
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	4393101	\N	\N	EFO	6	EFO	disease	Progressive non-infectious anterior vertebral fusion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	5997269	\N	\N	EFO	8	EFO	material property	Progressive non-infectious anterior vertebral fusion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2062	"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." []	6550747	\N	\N	EFO	9	EFO	experimental factor	Progressive non-infectious anterior vertebral fusion
Orphanet:2063	\N	\N	"" []	Orphanet:2063	"" []	74377	\N	\N	EFO	0	EFO	Splenogonadal fusion - limb defects - micrognathia	Splenogonadal fusion - limb defects - micrognathia
Orphanet:108973	Orphanet:2063	\N	"" []	Orphanet:2063	"" []	216283	\N	\N	EFO	1	EFO	Syndromic visceral malformation	Splenogonadal fusion - limb defects - micrognathia
Orphanet:183576	Orphanet:2063	\N	"" []	Orphanet:2063	"" []	216284	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Splenogonadal fusion - limb defects - micrognathia
Orphanet:404574	Orphanet:2063	\N	"" []	Orphanet:2063	"" []	216285	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Splenogonadal fusion - limb defects - micrognathia
Orphanet:183548	Orphanet:108973	\N	"" []	Orphanet:2063	"" []	570660	\N	\N	EFO	2	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Splenogonadal fusion - limb defects - micrognathia
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2063	"" []	570661	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Splenogonadal fusion - limb defects - micrognathia
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2063	"" []	570662	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Splenogonadal fusion - limb defects - micrognathia
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2063	"" []	570663	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Splenogonadal fusion - limb defects - micrognathia
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:2063	"" []	1152675	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Splenogonadal fusion - limb defects - micrognathia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2063	"" []	4393105	\N	\N	EFO	6	EFO	genetic disorder	Splenogonadal fusion - limb defects - micrognathia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2063	"" []	1152677	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Splenogonadal fusion - limb defects - micrognathia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2063	"" []	1152678	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Splenogonadal fusion - limb defects - micrognathia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2063	"" []	5028408	\N	\N	EFO	7	EFO	disease	Splenogonadal fusion - limb defects - micrognathia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2063	"" []	2035155	\N	\N	EFO	4	EFO	Rare genetic bone disease	Splenogonadal fusion - limb defects - micrognathia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2063	"" []	2035156	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Splenogonadal fusion - limb defects - micrognathia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2063	"" []	2035157	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Splenogonadal fusion - limb defects - micrognathia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2063	"" []	5817538	\N	\N	EFO	8	EFO	disposition	Splenogonadal fusion - limb defects - micrognathia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2063	"" []	3185597	\N	\N	EFO	5	EFO	genetic disorder	Splenogonadal fusion - limb defects - micrognathia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2063	"" []	3185598	\N	\N	EFO	5	EFO	bone disease	Splenogonadal fusion - limb defects - micrognathia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2063	"" []	3185599	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Splenogonadal fusion - limb defects - micrognathia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2063	"" []	6409912	\N	\N	EFO	9	EFO	material property	Splenogonadal fusion - limb defects - micrognathia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2063	"" []	4393104	\N	\N	EFO	6	EFO	skeletal system disease	Splenogonadal fusion - limb defects - micrognathia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2063	"" []	6807757	\N	\N	EFO	10	EFO	experimental factor	Splenogonadal fusion - limb defects - micrognathia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2063	"" []	5411641	\N	\N	EFO	7	EFO	disease	Splenogonadal fusion - limb defects - micrognathia
Orphanet:2064	\N	\N	"" []	Orphanet:2064	"" []	74378	\N	\N	EFO	0	EFO	Posterior fusion of lumbosacral vertebrae - blepharoptosis	Posterior fusion of lumbosacral vertebrae - blepharoptosis
Orphanet:330206	Orphanet:2064	\N	"" []	Orphanet:2064	"" []	216286	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Posterior fusion of lumbosacral vertebrae - blepharoptosis
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2064	"" []	570664	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Posterior fusion of lumbosacral vertebrae - blepharoptosis
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2064	"" []	1152679	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Posterior fusion of lumbosacral vertebrae - blepharoptosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2064	"" []	2035158	\N	\N	EFO	4	EFO	genetic disorder	Posterior fusion of lumbosacral vertebrae - blepharoptosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2064	"" []	3185601	\N	\N	EFO	5	EFO	disease	Posterior fusion of lumbosacral vertebrae - blepharoptosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2064	"" []	4393106	\N	\N	EFO	6	EFO	disposition	Posterior fusion of lumbosacral vertebrae - blepharoptosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2064	"" []	5411642	\N	\N	EFO	7	EFO	material property	Posterior fusion of lumbosacral vertebrae - blepharoptosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2064	"" []	6148850	\N	\N	EFO	8	EFO	experimental factor	Posterior fusion of lumbosacral vertebrae - blepharoptosis
Orphanet:206428	\N	\N	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	74379	\N	\N	EFO	0	EFO	Hypoxanthine-guanine phosphoribosyltransferase deficiency	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:182076	Orphanet:206428	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	216287	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:68385	Orphanet:206428	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	216288	\N	\N	EFO	1	EFO	Neurometabolic disease	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:79191	Orphanet:206428	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	216289	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:93593	Orphanet:206428	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	216290	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:98415	Orphanet:206428	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	216291	\N	\N	EFO	1	EFO	Vitamin B12- and folate-independent constitutional megaloblastic anemia	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	570665	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	570666	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	570667	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	570668	\N	\N	EFO	2	EFO	Rare genetic renal disease	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:248296	Orphanet:98415	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	570669	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	1152680	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Hypoxanthine-guanine phosphoribosyltransferase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	4393107	\N	\N	EFO	6	EFO	genetic disorder	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	1152682	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hypoxanthine-guanine phosphoribosyltransferase deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	1152683	\N	\N	EFO	3	EFO	genetic disorder	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	1152684	\N	\N	EFO	3	EFO	Rare constitutional anemia	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	2035159	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Hypoxanthine-guanine phosphoribosyltransferase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	5028409	\N	\N	EFO	7	EFO	disease	Hypoxanthine-guanine phosphoribosyltransferase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	2035161	\N	\N	EFO	4	EFO	genetic disorder	Hypoxanthine-guanine phosphoribosyltransferase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	2035162	\N	\N	EFO	4	EFO	metabolic disease	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	2035163	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	3185602	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hypoxanthine-guanine phosphoribosyltransferase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	5817539	\N	\N	EFO	8	EFO	disposition	Hypoxanthine-guanine phosphoribosyltransferase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	3185605	\N	\N	EFO	5	EFO	disease	Hypoxanthine-guanine phosphoribosyltransferase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	3185606	\N	\N	EFO	5	EFO	genetic disorder	Hypoxanthine-guanine phosphoribosyltransferase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	3185607	\N	\N	EFO	5	EFO	hematological system disease	Hypoxanthine-guanine phosphoribosyltransferase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	6409913	\N	\N	EFO	9	EFO	material property	Hypoxanthine-guanine phosphoribosyltransferase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	4393110	\N	\N	EFO	6	EFO	disease	Hypoxanthine-guanine phosphoribosyltransferase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206428	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	6807758	\N	\N	EFO	10	EFO	experimental factor	Hypoxanthine-guanine phosphoribosyltransferase deficiency
Orphanet:206436	\N	\N	"" []	Orphanet:206436	"" []	74380	\N	\N	EFO	0	EFO	Infantile Krabbe disease	Infantile Krabbe disease
Orphanet:487	Orphanet:206436	\N	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	Orphanet:206436	"" []	216292	\N	\N	EFO	1	EFO	Krabbe disease	Infantile Krabbe disease
Orphanet:183500	Orphanet:487	\N	"" []	Orphanet:206436	"" []	570670	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Infantile Krabbe disease
Orphanet:207018	Orphanet:487	\N	"" []	Orphanet:206436	"" []	570671	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Infantile Krabbe disease
Orphanet:68356	Orphanet:487	\N	"" []	Orphanet:206436	"" []	570672	\N	\N	EFO	2	EFO	Leukodystrophy	Infantile Krabbe disease
Orphanet:68385	Orphanet:487	\N	"" []	Orphanet:206436	"" []	570673	\N	\N	EFO	2	EFO	Neurometabolic disease	Infantile Krabbe disease
Orphanet:79225	Orphanet:487	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:206436	"" []	570674	\N	\N	EFO	2	EFO	Sphingolipidosis	Infantile Krabbe disease
Orphanet:98666	Orphanet:487	\N	"" []	Orphanet:206436	"" []	570675	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Infantile Krabbe disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:206436	"" []	1152685	\N	\N	EFO	3	EFO	neurodegenerative disease	Infantile Krabbe disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:206436	"" []	1152686	\N	\N	EFO	3	EFO	brain disease	Infantile Krabbe disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:206436	"" []	1152687	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile Krabbe disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:206436	"" []	1152688	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Infantile Krabbe disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:206436	"" []	1152689	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile Krabbe disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:206436	"" []	1152690	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile Krabbe disease
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:206436	"" []	1152691	\N	\N	EFO	3	EFO	Lysosomal disease	Infantile Krabbe disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:206436	"" []	1152692	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Infantile Krabbe disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:206436	"" []	2035164	\N	\N	EFO	4	EFO	nervous system disease	Infantile Krabbe disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:206436	"" []	2035165	\N	\N	EFO	4	EFO	nervous system disease	Infantile Krabbe disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206436	"" []	4393112	\N	\N	EFO	6	EFO	genetic disorder	Infantile Krabbe disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:206436	"" []	2035167	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Infantile Krabbe disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:206436	"" []	2035168	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Infantile Krabbe disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:206436	"" []	2035169	\N	\N	EFO	4	EFO	Retinal dystrophy	Infantile Krabbe disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206436	"" []	3185608	\N	\N	EFO	5	EFO	disease	Infantile Krabbe disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206436	"" []	6148852	\N	\N	EFO	8	EFO	disease	Infantile Krabbe disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:206436	"" []	3185610	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Infantile Krabbe disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206436	"" []	3185611	\N	\N	EFO	5	EFO	genetic disorder	Infantile Krabbe disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:206436	"" []	3185612	\N	\N	EFO	5	EFO	metabolic disease	Infantile Krabbe disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:206436	"" []	3185613	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Infantile Krabbe disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206436	"" []	6409914	\N	\N	EFO	9	EFO	disposition	Infantile Krabbe disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206436	"" []	4393114	\N	\N	EFO	6	EFO	disease	Infantile Krabbe disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:206436	"" []	4393115	\N	\N	EFO	6	EFO	Rare genetic eye disease	Infantile Krabbe disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206436	"" []	6807759	\N	\N	EFO	10	EFO	material property	Infantile Krabbe disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206436	"" []	5411645	\N	\N	EFO	7	EFO	genetic disorder	Infantile Krabbe disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:206436	"" []	5411646	\N	\N	EFO	7	EFO	eye disease	Infantile Krabbe disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206436	"" []	7048580	\N	\N	EFO	11	EFO	experimental factor	Infantile Krabbe disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206436	"" []	6148853	\N	\N	EFO	8	EFO	disease	Infantile Krabbe disease
Orphanet:206443	\N	\N	"" []	Orphanet:206443	"" []	74381	\N	\N	EFO	0	EFO	Late-infantile/juvenile Krabbe disease	Late-infantile/juvenile Krabbe disease
Orphanet:487	Orphanet:206443	\N	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	Orphanet:206443	"" []	216293	\N	\N	EFO	1	EFO	Krabbe disease	Late-infantile/juvenile Krabbe disease
Orphanet:183500	Orphanet:487	\N	"" []	Orphanet:206443	"" []	570676	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Late-infantile/juvenile Krabbe disease
Orphanet:207018	Orphanet:487	\N	"" []	Orphanet:206443	"" []	570677	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Late-infantile/juvenile Krabbe disease
Orphanet:68356	Orphanet:487	\N	"" []	Orphanet:206443	"" []	570678	\N	\N	EFO	2	EFO	Leukodystrophy	Late-infantile/juvenile Krabbe disease
Orphanet:68385	Orphanet:487	\N	"" []	Orphanet:206443	"" []	570679	\N	\N	EFO	2	EFO	Neurometabolic disease	Late-infantile/juvenile Krabbe disease
Orphanet:79225	Orphanet:487	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:206443	"" []	570680	\N	\N	EFO	2	EFO	Sphingolipidosis	Late-infantile/juvenile Krabbe disease
Orphanet:98666	Orphanet:487	\N	"" []	Orphanet:206443	"" []	570681	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Late-infantile/juvenile Krabbe disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:206443	"" []	1152693	\N	\N	EFO	3	EFO	neurodegenerative disease	Late-infantile/juvenile Krabbe disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:206443	"" []	1152694	\N	\N	EFO	3	EFO	brain disease	Late-infantile/juvenile Krabbe disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:206443	"" []	1152695	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Late-infantile/juvenile Krabbe disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:206443	"" []	1152696	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Late-infantile/juvenile Krabbe disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:206443	"" []	1152697	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Late-infantile/juvenile Krabbe disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:206443	"" []	1152698	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Late-infantile/juvenile Krabbe disease
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:206443	"" []	1152699	\N	\N	EFO	3	EFO	Lysosomal disease	Late-infantile/juvenile Krabbe disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:206443	"" []	1152700	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Late-infantile/juvenile Krabbe disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:206443	"" []	2035170	\N	\N	EFO	4	EFO	nervous system disease	Late-infantile/juvenile Krabbe disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:206443	"" []	2035171	\N	\N	EFO	4	EFO	nervous system disease	Late-infantile/juvenile Krabbe disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206443	"" []	4393117	\N	\N	EFO	6	EFO	genetic disorder	Late-infantile/juvenile Krabbe disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:206443	"" []	2035173	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Late-infantile/juvenile Krabbe disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:206443	"" []	2035174	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Late-infantile/juvenile Krabbe disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:206443	"" []	2035175	\N	\N	EFO	4	EFO	Retinal dystrophy	Late-infantile/juvenile Krabbe disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206443	"" []	3185614	\N	\N	EFO	5	EFO	disease	Late-infantile/juvenile Krabbe disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206443	"" []	6148855	\N	\N	EFO	8	EFO	disease	Late-infantile/juvenile Krabbe disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:206443	"" []	3185616	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Late-infantile/juvenile Krabbe disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206443	"" []	3185617	\N	\N	EFO	5	EFO	genetic disorder	Late-infantile/juvenile Krabbe disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:206443	"" []	3185618	\N	\N	EFO	5	EFO	metabolic disease	Late-infantile/juvenile Krabbe disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:206443	"" []	3185619	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Late-infantile/juvenile Krabbe disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206443	"" []	6409915	\N	\N	EFO	9	EFO	disposition	Late-infantile/juvenile Krabbe disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206443	"" []	4393119	\N	\N	EFO	6	EFO	disease	Late-infantile/juvenile Krabbe disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:206443	"" []	4393120	\N	\N	EFO	6	EFO	Rare genetic eye disease	Late-infantile/juvenile Krabbe disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206443	"" []	6807760	\N	\N	EFO	10	EFO	material property	Late-infantile/juvenile Krabbe disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206443	"" []	5411648	\N	\N	EFO	7	EFO	genetic disorder	Late-infantile/juvenile Krabbe disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:206443	"" []	5411649	\N	\N	EFO	7	EFO	eye disease	Late-infantile/juvenile Krabbe disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206443	"" []	7048581	\N	\N	EFO	11	EFO	experimental factor	Late-infantile/juvenile Krabbe disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206443	"" []	6148856	\N	\N	EFO	8	EFO	disease	Late-infantile/juvenile Krabbe disease
Orphanet:206448	\N	\N	"" []	Orphanet:206448	"" []	74382	\N	\N	EFO	0	EFO	Adult Krabbe disease	Adult Krabbe disease
Orphanet:487	Orphanet:206448	\N	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	Orphanet:206448	"" []	216294	\N	\N	EFO	1	EFO	Krabbe disease	Adult Krabbe disease
Orphanet:183500	Orphanet:487	\N	"" []	Orphanet:206448	"" []	570682	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Adult Krabbe disease
Orphanet:207018	Orphanet:487	\N	"" []	Orphanet:206448	"" []	570683	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Adult Krabbe disease
Orphanet:68356	Orphanet:487	\N	"" []	Orphanet:206448	"" []	570684	\N	\N	EFO	2	EFO	Leukodystrophy	Adult Krabbe disease
Orphanet:68385	Orphanet:487	\N	"" []	Orphanet:206448	"" []	570685	\N	\N	EFO	2	EFO	Neurometabolic disease	Adult Krabbe disease
Orphanet:79225	Orphanet:487	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:206448	"" []	570686	\N	\N	EFO	2	EFO	Sphingolipidosis	Adult Krabbe disease
Orphanet:98666	Orphanet:487	\N	"" []	Orphanet:206448	"" []	570687	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Adult Krabbe disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:206448	"" []	1152701	\N	\N	EFO	3	EFO	neurodegenerative disease	Adult Krabbe disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:206448	"" []	1152702	\N	\N	EFO	3	EFO	brain disease	Adult Krabbe disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:206448	"" []	1152703	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Adult Krabbe disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:206448	"" []	1152704	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Adult Krabbe disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:206448	"" []	1152705	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Adult Krabbe disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:206448	"" []	1152706	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Adult Krabbe disease
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:206448	"" []	1152707	\N	\N	EFO	3	EFO	Lysosomal disease	Adult Krabbe disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:206448	"" []	1152708	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Adult Krabbe disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:206448	"" []	2035176	\N	\N	EFO	4	EFO	nervous system disease	Adult Krabbe disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:206448	"" []	2035177	\N	\N	EFO	4	EFO	nervous system disease	Adult Krabbe disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206448	"" []	4393122	\N	\N	EFO	6	EFO	genetic disorder	Adult Krabbe disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:206448	"" []	2035179	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Adult Krabbe disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:206448	"" []	2035180	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Adult Krabbe disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:206448	"" []	2035181	\N	\N	EFO	4	EFO	Retinal dystrophy	Adult Krabbe disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206448	"" []	3185620	\N	\N	EFO	5	EFO	disease	Adult Krabbe disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206448	"" []	6148858	\N	\N	EFO	8	EFO	disease	Adult Krabbe disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:206448	"" []	3185622	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Adult Krabbe disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206448	"" []	3185623	\N	\N	EFO	5	EFO	genetic disorder	Adult Krabbe disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:206448	"" []	3185624	\N	\N	EFO	5	EFO	metabolic disease	Adult Krabbe disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:206448	"" []	3185625	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Adult Krabbe disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206448	"" []	6409916	\N	\N	EFO	9	EFO	disposition	Adult Krabbe disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206448	"" []	4393124	\N	\N	EFO	6	EFO	disease	Adult Krabbe disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:206448	"" []	4393125	\N	\N	EFO	6	EFO	Rare genetic eye disease	Adult Krabbe disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206448	"" []	6807761	\N	\N	EFO	10	EFO	material property	Adult Krabbe disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206448	"" []	5411651	\N	\N	EFO	7	EFO	genetic disorder	Adult Krabbe disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:206448	"" []	5411652	\N	\N	EFO	7	EFO	eye disease	Adult Krabbe disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206448	"" []	7048582	\N	\N	EFO	11	EFO	experimental factor	Adult Krabbe disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206448	"" []	6148859	\N	\N	EFO	8	EFO	disease	Adult Krabbe disease
Orphanet:2065	\N	\N	"" []	Orphanet:2065	"" []	74383	\N	\N	EFO	0	EFO	Galloway-Mowat syndrome	Galloway-Mowat syndrome
Orphanet:102373	Orphanet:2065	\N	"" []	Orphanet:2065	"" []	216295	\N	\N	EFO	1	EFO	Primary glomerular disease	Galloway-Mowat syndrome
Orphanet:183763	Orphanet:2065	\N	"" []	Orphanet:2065	"" []	216296	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Galloway-Mowat syndrome
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:2065	"" []	570688	\N	\N	EFO	2	EFO	Genetic glomerular disease	Galloway-Mowat syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2065	"" []	570689	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Galloway-Mowat syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:2065	"" []	1152709	\N	\N	EFO	3	EFO	Rare genetic renal disease	Galloway-Mowat syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2065	"" []	1152710	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Galloway-Mowat syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2065	"" []	2035182	\N	\N	EFO	4	EFO	genetic disorder	Galloway-Mowat syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2065	"" []	2035183	\N	\N	EFO	4	EFO	genetic disorder	Galloway-Mowat syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2065	"" []	3185626	\N	\N	EFO	5	EFO	disease	Galloway-Mowat syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2065	"" []	4393126	\N	\N	EFO	6	EFO	disposition	Galloway-Mowat syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2065	"" []	5411653	\N	\N	EFO	7	EFO	material property	Galloway-Mowat syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2065	"" []	6148860	\N	\N	EFO	8	EFO	experimental factor	Galloway-Mowat syndrome
Orphanet:206546	\N	\N	"" []	Orphanet:206546	"" []	74384	\N	\N	EFO	0	EFO	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:207085	Orphanet:206546	\N	"" []	Orphanet:206546	"" []	216297	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of dystrophin	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:262	Orphanet:206546	\N	"" []	Orphanet:206546	"" []	216298	\N	\N	EFO	1	EFO	Duchenne and Becker muscular dystrophy	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:207049	Orphanet:207085	\N	"" []	Orphanet:206546	"" []	570690	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:206644	Orphanet:262	\N	"" []	Orphanet:206546	"" []	570691	\N	\N	EFO	2	EFO	Progressive muscular dystrophy	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:217610	Orphanet:262	\N	"" []	Orphanet:206546	"" []	570692	\N	\N	EFO	2	EFO	Neuromuscular disease with dilated cardiomyopathy	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:98464	Orphanet:262	\N	"" []	Orphanet:206546	"" []	570693	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:206546	"" []	1152711	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:206546	"" []	1152712	\N	\N	EFO	3	EFO	Muscular dystrophy	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:206546	"" []	1152713	\N	\N	EFO	3	EFO	Familial dilated cardiomyopathy	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:206546	"" []	1152714	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206546	"" []	4393129	\N	\N	EFO	6	EFO	muscular disease	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206546	"" []	4393130	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:206546	"" []	2035186	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:206546	"" []	2035187	\N	\N	EFO	4	EFO	cardiomyopathy	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:206546	"" []	2035188	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:206546	"" []	2035189	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206546	"" []	5059731	\N	\N	EFO	7	EFO	skeletal system disease	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206546	"" []	5059732	\N	\N	EFO	7	EFO	genetic disorder	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206546	"" []	3185629	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:206546	"" []	3185630	\N	\N	EFO	5	EFO	heart disease	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206546	"" []	3185631	\N	\N	EFO	5	EFO	genetic disorder	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:206546	"" []	3185632	\N	\N	EFO	5	EFO	heart disease	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:206546	"" []	3185633	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206546	"" []	5876935	\N	\N	EFO	8	EFO	disease	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206546	"" []	5876936	\N	\N	EFO	8	EFO	disease	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:206546	"" []	4393131	\N	\N	EFO	6	EFO	cardiovascular disease	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206546	"" []	6470139	\N	\N	EFO	9	EFO	disposition	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206546	"" []	5411655	\N	\N	EFO	7	EFO	disease	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206546	"" []	6848375	\N	\N	EFO	10	EFO	material property	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206546	"" []	7068406	\N	\N	EFO	11	EFO	experimental factor	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:206549	\N	\N	"" []	Orphanet:206549	"" []	74385	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2L	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:102015	Orphanet:206549	\N	"" []	Orphanet:206549	"" []	216299	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:207122	Orphanet:206549	\N	"" []	Orphanet:206549	"" []	216300	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of fukutin	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:206549	"" []	570694	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:207113	Orphanet:207122	\N	"" []	Orphanet:206549	"" []	570695	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:206549	"" []	1152715	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:206549	"" []	1152716	\N	\N	EFO	3	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:206549	"" []	2035190	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:206549	"" []	2035191	\N	\N	EFO	4	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:206549	"" []	3185634	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:206549	"" []	3185635	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206549	"" []	4393133	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2L
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206549	"" []	5411656	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206549	"" []	5411657	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2L
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206549	"" []	5997276	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2L
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206549	"" []	5997277	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2L
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206549	"" []	6550752	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2L
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206549	"" []	6550753	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2L
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206549	"" []	6889104	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2L
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206549	"" []	7085909	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2L
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206549	"" []	7204338	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2L
Orphanet:206554	\N	\N	"" []	Orphanet:206554	"" []	74386	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2M	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:102015	Orphanet:206554	\N	"" []	Orphanet:206554	"" []	216301	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:207122	Orphanet:206554	\N	"" []	Orphanet:206554	"" []	216302	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of fukutin	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:217610	Orphanet:206554	\N	"" []	Orphanet:206554	"" []	216303	\N	\N	EFO	1	EFO	Neuromuscular disease with dilated cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:309469	Orphanet:206554	\N	"" []	Orphanet:206554	"" []	216304	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:371047	Orphanet:206554	\N	"" []	Orphanet:206554	"" []	216305	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:371176	Orphanet:206554	\N	"" []	Orphanet:206554	"" []	216306	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with dilated cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:206554	"" []	570696	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:207113	Orphanet:207122	\N	"" []	Orphanet:206554	"" []	570697	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:206554	"" []	570698	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:206554	"" []	570699	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:206554	"" []	570700	\N	\N	EFO	2	EFO	Neurometabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:217607	Orphanet:371176	\N	"" []	Orphanet:206554	"" []	570701	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:206554	"" []	1152717	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:206554	"" []	1152718	\N	\N	EFO	3	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:206554	"" []	1152719	\N	\N	EFO	3	EFO	cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:206554	"" []	1152720	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:206554	"" []	1152721	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:206554	"" []	1152722	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:206554	"" []	2035192	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:206554	"" []	2035193	\N	\N	EFO	4	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:206554	"" []	2035194	\N	\N	EFO	4	EFO	heart disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206554	"" []	2035195	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:206554	"" []	2035196	\N	\N	EFO	4	EFO	heart disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:206554	"" []	2035197	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206554	"" []	5997279	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:206554	"" []	3185636	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:206554	"" []	3185637	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:206554	"" []	3185638	\N	\N	EFO	5	EFO	cardiovascular disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206554	"" []	6378830	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206554	"" []	3185640	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:206554	"" []	3185641	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206554	"" []	4393136	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206554	"" []	5411660	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206554	"" []	5411661	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206554	"" []	4393139	\N	\N	EFO	6	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206554	"" []	6778628	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206554	"" []	4393142	\N	\N	EFO	6	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206554	"" []	5997278	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206554	"" []	7029842	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206554	"" []	6550754	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2M
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206554	"" []	7181752	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:206559	\N	\N	"" []	Orphanet:206559	"" []	74387	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2N	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:102015	Orphanet:206559	\N	"" []	Orphanet:206559	"" []	216307	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:209033	Orphanet:206559	\N	"" []	Orphanet:206559	"" []	216308	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein O-mannosyltransferase 2	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:309469	Orphanet:206559	\N	"" []	Orphanet:206559	"" []	216309	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:371064	Orphanet:206559	\N	"" []	Orphanet:206559	"" []	216310	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:206559	"" []	570702	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:207113	Orphanet:209033	\N	"" []	Orphanet:206559	"" []	570703	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:206559	"" []	570704	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:206559	"" []	570705	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:206559	"" []	570706	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:206559	"" []	1152723	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:206559	"" []	1152724	\N	\N	EFO	3	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:206559	"" []	1152725	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:206559	"" []	1152726	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:206559	"" []	1152727	\N	\N	EFO	3	EFO	Neurometabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:206559	"" []	2035199	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:206559	"" []	2035200	\N	\N	EFO	4	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:206559	"" []	2035201	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:206559	"" []	2035202	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:206559	"" []	2035203	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:206559	"" []	3185642	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:206559	"" []	3185643	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2N
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206559	"" []	3185644	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2N
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:206559	"" []	3185645	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:206559	"" []	3185646	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2N
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206559	"" []	5997282	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206559	"" []	4393143	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2N
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206559	"" []	5411665	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206559	"" []	5411666	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2N
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206559	"" []	6409918	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2N
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206559	"" []	4393147	\N	\N	EFO	6	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2N
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206559	"" []	5997281	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2N
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206559	"" []	6807763	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2N
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206559	"" []	6550756	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2N
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206559	"" []	7048584	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2N
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206559	"" []	7190196	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2N
Orphanet:206564	\N	\N	"" []	Orphanet:206564	"" []	74388	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2O	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:102015	Orphanet:206564	\N	"" []	Orphanet:206564	"" []	216311	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:209024	Orphanet:206564	\N	"" []	Orphanet:206564	"" []	216312	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:309469	Orphanet:206564	\N	"" []	Orphanet:206564	"" []	216313	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:371047	Orphanet:206564	\N	"" []	Orphanet:206564	"" []	216314	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:206564	"" []	570707	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:207113	Orphanet:209024	\N	"" []	Orphanet:206564	"" []	570708	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:206564	"" []	570709	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:206564	"" []	570710	\N	\N	EFO	2	EFO	Neurometabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:206564	"" []	1152728	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:206564	"" []	1152729	\N	\N	EFO	3	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:206564	"" []	1152730	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:206564	"" []	1152731	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:206564	"" []	2035204	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:206564	"" []	2035205	\N	\N	EFO	4	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:206564	"" []	2035206	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive limb-girdle muscular dystrophy type 2O
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206564	"" []	5997285	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:206564	"" []	3185648	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:206564	"" []	3185649	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2O
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206564	"" []	3185650	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2O
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:206564	"" []	3185651	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2O
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206564	"" []	6378831	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206564	"" []	4393149	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2O
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206564	"" []	5411670	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206564	"" []	5411671	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2O
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206564	"" []	4393153	\N	\N	EFO	6	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2O
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206564	"" []	6778629	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2O
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206564	"" []	5997284	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2O
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206564	"" []	7029843	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2O
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206564	"" []	6550758	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2O
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206564	"" []	7181753	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2O
Orphanet:206580	\N	\N	"" []	Orphanet:206580	"" []	74389	\N	\N	EFO	0	EFO	Autosomal recessive lower motor neuron disease with childhood onset	Autosomal recessive lower motor neuron disease with childhood onset
Orphanet:206710	Orphanet:206580	\N	"" []	Orphanet:206580	"" []	216315	\N	\N	EFO	1	EFO	Generalized bulbospinal muscular atrophy	Autosomal recessive lower motor neuron disease with childhood onset
Orphanet:206701	Orphanet:206710	\N	"" []	Orphanet:206580	"" []	570711	\N	\N	EFO	2	EFO	Bulbospinal muscular atrophy	Autosomal recessive lower motor neuron disease with childhood onset
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:206580	"" []	1152732	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Autosomal recessive lower motor neuron disease with childhood onset
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:206580	"" []	2035208	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal recessive lower motor neuron disease with childhood onset
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206580	"" []	3185653	\N	\N	EFO	5	EFO	muscular disease	Autosomal recessive lower motor neuron disease with childhood onset
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206580	"" []	3185654	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive lower motor neuron disease with childhood onset
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206580	"" []	4393155	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal recessive lower motor neuron disease with childhood onset
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206580	"" []	4393156	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive lower motor neuron disease with childhood onset
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206580	"" []	5411675	\N	\N	EFO	7	EFO	disease	Autosomal recessive lower motor neuron disease with childhood onset
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206580	"" []	5411676	\N	\N	EFO	7	EFO	disease	Autosomal recessive lower motor neuron disease with childhood onset
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206580	"" []	6148870	\N	\N	EFO	8	EFO	disposition	Autosomal recessive lower motor neuron disease with childhood onset
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206580	"" []	6632412	\N	\N	EFO	9	EFO	material property	Autosomal recessive lower motor neuron disease with childhood onset
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206580	"" []	6925514	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive lower motor neuron disease with childhood onset
Orphanet:206583	\N	\N	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	74390	\N	\N	EFO	0	EFO	Adult polyglucosan body disease	Adult polyglucosan body disease
Orphanet:207018	Orphanet:206583	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	216316	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Adult polyglucosan body disease
Orphanet:367	Orphanet:206583	\N	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	216317	\N	\N	EFO	1	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency	Adult polyglucosan body disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	570712	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Adult polyglucosan body disease
Orphanet:101940	Orphanet:367	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	570713	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Adult polyglucosan body disease
Orphanet:206959	Orphanet:367	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	570714	\N	\N	EFO	2	EFO	Muscular glycogenosis	Adult polyglucosan body disease
Orphanet:217607	Orphanet:367	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	570715	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Adult polyglucosan body disease
Orphanet:79201	Orphanet:367	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	570716	\N	\N	EFO	2	EFO	Glycogen storage disease	Adult polyglucosan body disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	1152733	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Adult polyglucosan body disease
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	1152734	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Adult polyglucosan body disease
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	1152735	\N	\N	EFO	3	EFO	Metabolic myopathy	Adult polyglucosan body disease
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	1152736	\N	\N	EFO	3	EFO	cardiomyopathy	Adult polyglucosan body disease
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	1152737	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Adult polyglucosan body disease
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	1152738	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Adult polyglucosan body disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	2035209	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Adult polyglucosan body disease
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	2035210	\N	\N	EFO	4	EFO	digestive system disease	Adult polyglucosan body disease
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	2035211	\N	\N	EFO	4	EFO	genetic disorder	Adult polyglucosan body disease
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	2035212	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Adult polyglucosan body disease
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	2035213	\N	\N	EFO	4	EFO	heart disease	Adult polyglucosan body disease
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	2035214	\N	\N	EFO	4	EFO	genetic disorder	Adult polyglucosan body disease
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	2035215	\N	\N	EFO	4	EFO	heart disease	Adult polyglucosan body disease
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	2035216	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Adult polyglucosan body disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	6148873	\N	\N	EFO	8	EFO	genetic disorder	Adult polyglucosan body disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	3185656	\N	\N	EFO	5	EFO	disease	Adult polyglucosan body disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	6409920	\N	\N	EFO	9	EFO	disease	Adult polyglucosan body disease
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	3185658	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Adult polyglucosan body disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	3185659	\N	\N	EFO	5	EFO	cardiovascular disease	Adult polyglucosan body disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	3185660	\N	\N	EFO	5	EFO	genetic disorder	Adult polyglucosan body disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	3185661	\N	\N	EFO	5	EFO	metabolic disease	Adult polyglucosan body disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	6778630	\N	\N	EFO	10	EFO	disposition	Adult polyglucosan body disease
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	4393159	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Adult polyglucosan body disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	4393160	\N	\N	EFO	6	EFO	disease	Adult polyglucosan body disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	4393161	\N	\N	EFO	6	EFO	disease	Adult polyglucosan body disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	7029844	\N	\N	EFO	11	EFO	material property	Adult polyglucosan body disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	5411678	\N	\N	EFO	7	EFO	muscular disease	Adult polyglucosan body disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	5411679	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Adult polyglucosan body disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	7181754	\N	\N	EFO	12	EFO	experimental factor	Adult polyglucosan body disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	6148872	\N	\N	EFO	8	EFO	skeletal system disease	Adult polyglucosan body disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206583	"Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." []	6632413	\N	\N	EFO	9	EFO	disease	Adult polyglucosan body disease
Orphanet:206599	\N	\N	"" []	Orphanet:206599	"" []	74391	\N	\N	EFO	0	EFO	Isolated asymptomatic elevation of creatine phosphokinase	Isolated asymptomatic elevation of creatine phosphokinase
Orphanet:207078	Orphanet:206599	\N	"" []	Orphanet:206599	"" []	216318	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of caveolin-3	Isolated asymptomatic elevation of creatine phosphokinase
Orphanet:207085	Orphanet:206599	\N	"" []	Orphanet:206599	"" []	216319	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of dystrophin	Isolated asymptomatic elevation of creatine phosphokinase
Orphanet:207049	Orphanet:207078	\N	"" []	Orphanet:206599	"" []	570717	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Isolated asymptomatic elevation of creatine phosphokinase
Orphanet:207049	Orphanet:207085	\N	"" []	Orphanet:206599	"" []	570718	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Isolated asymptomatic elevation of creatine phosphokinase
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:206599	"" []	1152739	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Isolated asymptomatic elevation of creatine phosphokinase
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206599	"" []	2035217	\N	\N	EFO	4	EFO	muscular disease	Isolated asymptomatic elevation of creatine phosphokinase
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206599	"" []	2035218	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Isolated asymptomatic elevation of creatine phosphokinase
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206599	"" []	3185662	\N	\N	EFO	5	EFO	skeletal system disease	Isolated asymptomatic elevation of creatine phosphokinase
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206599	"" []	3185663	\N	\N	EFO	5	EFO	genetic disorder	Isolated asymptomatic elevation of creatine phosphokinase
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206599	"" []	4393162	\N	\N	EFO	6	EFO	disease	Isolated asymptomatic elevation of creatine phosphokinase
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206599	"" []	4393163	\N	\N	EFO	6	EFO	disease	Isolated asymptomatic elevation of creatine phosphokinase
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206599	"" []	5411680	\N	\N	EFO	7	EFO	disposition	Isolated asymptomatic elevation of creatine phosphokinase
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206599	"" []	6148874	\N	\N	EFO	8	EFO	material property	Isolated asymptomatic elevation of creatine phosphokinase
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206599	"" []	6632414	\N	\N	EFO	9	EFO	experimental factor	Isolated asymptomatic elevation of creatine phosphokinase
Orphanet:2066	\N	\N	"" []	Orphanet:2066	"" []	74392	\N	\N	EFO	0	EFO	Gamma-aminobutyric acid transaminase deficiency	Gamma-aminobutyric acid transaminase deficiency
Orphanet:308407	Orphanet:2066	\N	"" []	Orphanet:2066	"" []	216320	\N	\N	EFO	1	EFO	Disorder of beta and omega amino acid metabolism	Gamma-aminobutyric acid transaminase deficiency
Orphanet:68385	Orphanet:2066	\N	"" []	Orphanet:2066	"" []	216321	\N	\N	EFO	1	EFO	Neurometabolic disease	Gamma-aminobutyric acid transaminase deficiency
Orphanet:79175	Orphanet:2066	\N	"" []	Orphanet:2066	"" []	216322	\N	\N	EFO	1	EFO	Disorder of gamma-aminobutyric acid metabolism	Gamma-aminobutyric acid transaminase deficiency
Orphanet:79062	Orphanet:308407	\N	"" []	Orphanet:2066	"" []	570719	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Gamma-aminobutyric acid transaminase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:2066	"" []	570720	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Gamma-aminobutyric acid transaminase deficiency
Orphanet:79214	Orphanet:79175	\N	"" []	Orphanet:2066	"" []	570721	\N	\N	EFO	2	EFO	Disorder of biogenic amine metabolism and transport	Gamma-aminobutyric acid transaminase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2066	"" []	1152740	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Gamma-aminobutyric acid transaminase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2066	"" []	1152741	\N	\N	EFO	3	EFO	genetic disorder	Gamma-aminobutyric acid transaminase deficiency
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:2066	"" []	1152742	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Gamma-aminobutyric acid transaminase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2066	"" []	2035219	\N	\N	EFO	4	EFO	genetic disorder	Gamma-aminobutyric acid transaminase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2066	"" []	2035220	\N	\N	EFO	4	EFO	metabolic disease	Gamma-aminobutyric acid transaminase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2066	"" []	3185664	\N	\N	EFO	5	EFO	disease	Gamma-aminobutyric acid transaminase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2066	"" []	3185665	\N	\N	EFO	5	EFO	disease	Gamma-aminobutyric acid transaminase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2066	"" []	4133483	\N	\N	EFO	6	EFO	disposition	Gamma-aminobutyric acid transaminase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2066	"" []	5181906	\N	\N	EFO	7	EFO	material property	Gamma-aminobutyric acid transaminase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2066	"" []	5997288	\N	\N	EFO	8	EFO	experimental factor	Gamma-aminobutyric acid transaminase deficiency
Orphanet:206634	\N	\N	"" []	Orphanet:206634	"" []	74393	\N	\N	EFO	0	EFO	Genetic skeletal muscle disease	Genetic skeletal muscle disease
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206634	"" []	216323	\N	\N	EFO	1	EFO	Genetic neuromuscular disease	Genetic skeletal muscle disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206634	"" []	570722	\N	\N	EFO	2	EFO	muscular disease	Genetic skeletal muscle disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206634	"" []	570723	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Genetic skeletal muscle disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206634	"" []	1152743	\N	\N	EFO	3	EFO	skeletal system disease	Genetic skeletal muscle disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206634	"" []	1152744	\N	\N	EFO	3	EFO	genetic disorder	Genetic skeletal muscle disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206634	"" []	2035222	\N	\N	EFO	4	EFO	disease	Genetic skeletal muscle disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206634	"" []	2035223	\N	\N	EFO	4	EFO	disease	Genetic skeletal muscle disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206634	"" []	3185667	\N	\N	EFO	5	EFO	disposition	Genetic skeletal muscle disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206634	"" []	4393165	\N	\N	EFO	6	EFO	material property	Genetic skeletal muscle disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206634	"" []	5411682	\N	\N	EFO	7	EFO	experimental factor	Genetic skeletal muscle disease
Orphanet:206644	\N	\N	"" []	Orphanet:206644	"" []	74394	\N	\N	EFO	0	EFO	Progressive muscular dystrophy	Progressive muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:206644	"" []	216324	\N	\N	EFO	1	EFO	Muscular dystrophy	Progressive muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:206644	"" []	570724	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Progressive muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206644	"" []	1152745	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Progressive muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206644	"" []	2035224	\N	\N	EFO	4	EFO	muscular disease	Progressive muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206644	"" []	2035225	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Progressive muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206644	"" []	3185668	\N	\N	EFO	5	EFO	skeletal system disease	Progressive muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206644	"" []	3185669	\N	\N	EFO	5	EFO	genetic disorder	Progressive muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206644	"" []	4393166	\N	\N	EFO	6	EFO	disease	Progressive muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206644	"" []	4393167	\N	\N	EFO	6	EFO	disease	Progressive muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206644	"" []	5411683	\N	\N	EFO	7	EFO	disposition	Progressive muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206644	"" []	6148875	\N	\N	EFO	8	EFO	material property	Progressive muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206644	"" []	6632415	\N	\N	EFO	9	EFO	experimental factor	Progressive muscular dystrophy
Orphanet:206647	\N	\N	"" []	Orphanet:206647	"" []	74395	\N	\N	EFO	0	EFO	Myotonic dystrophy	Myotonic dystrophy
Orphanet:206644	Orphanet:206647	\N	"" []	Orphanet:206647	"" []	216325	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	Myotonic dystrophy
Orphanet:206970	Orphanet:206647	\N	"" []	Orphanet:206647	"" []	216326	\N	\N	EFO	1	EFO	Myotonic syndrome	Myotonic dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:206647	"" []	570725	\N	\N	EFO	2	EFO	Muscular dystrophy	Myotonic dystrophy
Orphanet:206634	Orphanet:206970	\N	"" []	Orphanet:206647	"" []	570726	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Myotonic dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:206647	"" []	1152746	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Myotonic dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206647	"" []	2035226	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Myotonic dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206647	"" []	3000190	\N	\N	EFO	5	EFO	muscular disease	Myotonic dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206647	"" []	3000191	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Myotonic dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206647	"" []	4133484	\N	\N	EFO	6	EFO	skeletal system disease	Myotonic dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206647	"" []	4133485	\N	\N	EFO	6	EFO	genetic disorder	Myotonic dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206647	"" []	5181907	\N	\N	EFO	7	EFO	disease	Myotonic dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206647	"" []	5181908	\N	\N	EFO	7	EFO	disease	Myotonic dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206647	"" []	5997289	\N	\N	EFO	8	EFO	disposition	Myotonic dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206647	"" []	6550761	\N	\N	EFO	9	EFO	material property	Myotonic dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206647	"" []	6889106	\N	\N	EFO	10	EFO	experimental factor	Myotonic dystrophy
Orphanet:206650	\N	\N	"" []	Orphanet:206650	"" []	74396	\N	\N	EFO	0	EFO	Autosomal dominant distal myopathy	Autosomal dominant distal myopathy
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:206650	"" []	216327	\N	\N	EFO	1	EFO	Distal myopathy	Autosomal dominant distal myopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:206650	"" []	570727	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Autosomal dominant distal myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206650	"" []	1152748	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal dominant distal myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206650	"" []	2035229	\N	\N	EFO	4	EFO	muscular disease	Autosomal dominant distal myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206650	"" []	2035230	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant distal myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206650	"" []	3185672	\N	\N	EFO	5	EFO	skeletal system disease	Autosomal dominant distal myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206650	"" []	3185673	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant distal myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206650	"" []	4393170	\N	\N	EFO	6	EFO	disease	Autosomal dominant distal myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206650	"" []	4393171	\N	\N	EFO	6	EFO	disease	Autosomal dominant distal myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206650	"" []	5411685	\N	\N	EFO	7	EFO	disposition	Autosomal dominant distal myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206650	"" []	6148877	\N	\N	EFO	8	EFO	material property	Autosomal dominant distal myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206650	"" []	6632417	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant distal myopathy
Orphanet:206653	\N	\N	"" []	Orphanet:206653	"" []	74397	\N	\N	EFO	0	EFO	Autosomal recessive distal myopathy	Autosomal recessive distal myopathy
Orphanet:599	Orphanet:206653	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:206653	"" []	216328	\N	\N	EFO	1	EFO	Distal myopathy	Autosomal recessive distal myopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:206653	"" []	570728	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Autosomal recessive distal myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206653	"" []	1152749	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal recessive distal myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206653	"" []	2035231	\N	\N	EFO	4	EFO	muscular disease	Autosomal recessive distal myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206653	"" []	2035232	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive distal myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206653	"" []	3185674	\N	\N	EFO	5	EFO	skeletal system disease	Autosomal recessive distal myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206653	"" []	3185675	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive distal myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206653	"" []	4393172	\N	\N	EFO	6	EFO	disease	Autosomal recessive distal myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206653	"" []	4393173	\N	\N	EFO	6	EFO	disease	Autosomal recessive distal myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206653	"" []	5411686	\N	\N	EFO	7	EFO	disposition	Autosomal recessive distal myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206653	"" []	6148878	\N	\N	EFO	8	EFO	material property	Autosomal recessive distal myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206653	"" []	6632418	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive distal myopathy
Orphanet:206656	\N	\N	"" []	Orphanet:206656	"" []	74398	\N	\N	EFO	0	EFO	Non-dystrophic myopathy	Non-dystrophic myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:206656	"" []	216329	\N	\N	EFO	1	EFO	Genetic skeletal muscle disease	Non-dystrophic myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206656	"" []	570729	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Non-dystrophic myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206656	"" []	1152750	\N	\N	EFO	3	EFO	muscular disease	Non-dystrophic myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206656	"" []	1152751	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Non-dystrophic myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206656	"" []	2035233	\N	\N	EFO	4	EFO	skeletal system disease	Non-dystrophic myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206656	"" []	2035234	\N	\N	EFO	4	EFO	genetic disorder	Non-dystrophic myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206656	"" []	3185676	\N	\N	EFO	5	EFO	disease	Non-dystrophic myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206656	"" []	3185677	\N	\N	EFO	5	EFO	disease	Non-dystrophic myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206656	"" []	4393174	\N	\N	EFO	6	EFO	disposition	Non-dystrophic myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206656	"" []	5411687	\N	\N	EFO	7	EFO	material property	Non-dystrophic myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206656	"" []	6148879	\N	\N	EFO	8	EFO	experimental factor	Non-dystrophic myopathy
Orphanet:206659	\N	\N	"" []	Orphanet:206659	"" []	74399	\N	\N	EFO	0	EFO	Non-dystrophic myopathy with collagen 6 anomaly	Non-dystrophic myopathy with collagen 6 anomaly
Orphanet:206656	Orphanet:206659	\N	"" []	Orphanet:206659	"" []	216330	\N	\N	EFO	1	EFO	Non-dystrophic myopathy	Non-dystrophic myopathy with collagen 6 anomaly
Orphanet:207090	Orphanet:206659	\N	"" []	Orphanet:206659	"" []	216331	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of collagen 6	Non-dystrophic myopathy with collagen 6 anomaly
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:206659	"" []	570730	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Non-dystrophic myopathy with collagen 6 anomaly
Orphanet:207049	Orphanet:207090	\N	"" []	Orphanet:206659	"" []	570731	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Non-dystrophic myopathy with collagen 6 anomaly
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206659	"" []	1152752	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Non-dystrophic myopathy with collagen 6 anomaly
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:206659	"" []	1152753	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Non-dystrophic myopathy with collagen 6 anomaly
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206659	"" []	2035235	\N	\N	EFO	4	EFO	muscular disease	Non-dystrophic myopathy with collagen 6 anomaly
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206659	"" []	2035236	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Non-dystrophic myopathy with collagen 6 anomaly
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206659	"" []	3185678	\N	\N	EFO	5	EFO	skeletal system disease	Non-dystrophic myopathy with collagen 6 anomaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206659	"" []	3185679	\N	\N	EFO	5	EFO	genetic disorder	Non-dystrophic myopathy with collagen 6 anomaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206659	"" []	4393175	\N	\N	EFO	6	EFO	disease	Non-dystrophic myopathy with collagen 6 anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206659	"" []	4393176	\N	\N	EFO	6	EFO	disease	Non-dystrophic myopathy with collagen 6 anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206659	"" []	5411688	\N	\N	EFO	7	EFO	disposition	Non-dystrophic myopathy with collagen 6 anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206659	"" []	6148880	\N	\N	EFO	8	EFO	material property	Non-dystrophic myopathy with collagen 6 anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206659	"" []	6632419	\N	\N	EFO	9	EFO	experimental factor	Non-dystrophic myopathy with collagen 6 anomaly
Orphanet:206662	\N	\N	"" []	Orphanet:206662	"" []	74400	\N	\N	EFO	0	EFO	Inclusion myopathy	Inclusion myopathy
Orphanet:206656	Orphanet:206662	\N	"" []	Orphanet:206662	"" []	216332	\N	\N	EFO	1	EFO	Non-dystrophic myopathy	Inclusion myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:206662	"" []	570732	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Inclusion myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206662	"" []	1152754	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Inclusion myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206662	"" []	2035237	\N	\N	EFO	4	EFO	muscular disease	Inclusion myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206662	"" []	2035238	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Inclusion myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206662	"" []	3185680	\N	\N	EFO	5	EFO	skeletal system disease	Inclusion myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206662	"" []	3185681	\N	\N	EFO	5	EFO	genetic disorder	Inclusion myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206662	"" []	4393177	\N	\N	EFO	6	EFO	disease	Inclusion myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206662	"" []	4393178	\N	\N	EFO	6	EFO	disease	Inclusion myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206662	"" []	5411689	\N	\N	EFO	7	EFO	disposition	Inclusion myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206662	"" []	6148881	\N	\N	EFO	8	EFO	material property	Inclusion myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206662	"" []	6632420	\N	\N	EFO	9	EFO	experimental factor	Inclusion myopathy
Orphanet:2067	\N	\N	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	74401	\N	\N	EFO	0	EFO	GAPO syndrome	GAPO syndrome
Orphanet:102283	Orphanet:2067	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	216333	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	GAPO syndrome
Orphanet:183580	Orphanet:2067	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	216334	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	GAPO syndrome
Orphanet:183763	Orphanet:2067	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	216335	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	GAPO syndrome
Orphanet:79373	Orphanet:2067	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	216336	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	GAPO syndrome
Orphanet:98677	Orphanet:2067	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	216337	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	GAPO syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	570733	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	GAPO syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	570734	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	GAPO syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	570735	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	GAPO syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	570736	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	GAPO syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	570737	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	GAPO syndrome
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	570738	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	GAPO syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	1152755	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	GAPO syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	2035239	\N	\N	EFO	4	EFO	genetic disorder	GAPO syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	1152757	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	GAPO syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	1152758	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	GAPO syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	1152759	\N	\N	EFO	3	EFO	Rare genetic skin disease	GAPO syndrome
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	1152760	\N	\N	EFO	3	EFO	Genetic optic atrophy	GAPO syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	5411691	\N	\N	EFO	7	EFO	disease	GAPO syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	2035241	\N	\N	EFO	4	EFO	genetic disorder	GAPO syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	2035242	\N	\N	EFO	4	EFO	genetic disorder	GAPO syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	2035243	\N	\N	EFO	4	EFO	skin disease	GAPO syndrome
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	2035244	\N	\N	EFO	4	EFO	Optic neuropathy	GAPO syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	5817542	\N	\N	EFO	8	EFO	disposition	GAPO syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	3185683	\N	\N	EFO	5	EFO	disease	GAPO syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	3185684	\N	\N	EFO	5	EFO	Rare genetic eye disease	GAPO syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	6409921	\N	\N	EFO	9	EFO	material property	GAPO syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	4393180	\N	\N	EFO	6	EFO	genetic disorder	GAPO syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	4393181	\N	\N	EFO	6	EFO	eye disease	GAPO syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	6807765	\N	\N	EFO	10	EFO	experimental factor	GAPO syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2067	"GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" []	5411692	\N	\N	EFO	7	EFO	disease	GAPO syndrome
Orphanet:206701	\N	\N	"" []	Orphanet:206701	"" []	74402	\N	\N	EFO	0	EFO	Bulbospinal muscular atrophy	Bulbospinal muscular atrophy
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:206701	"" []	216338	\N	\N	EFO	1	EFO	Genetic motor neuron disease	Bulbospinal muscular atrophy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:206701	"" []	570739	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Bulbospinal muscular atrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206701	"" []	1152761	\N	\N	EFO	3	EFO	muscular disease	Bulbospinal muscular atrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206701	"" []	1152762	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Bulbospinal muscular atrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206701	"" []	2035245	\N	\N	EFO	4	EFO	skeletal system disease	Bulbospinal muscular atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206701	"" []	2035246	\N	\N	EFO	4	EFO	genetic disorder	Bulbospinal muscular atrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206701	"" []	3185685	\N	\N	EFO	5	EFO	disease	Bulbospinal muscular atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206701	"" []	3185686	\N	\N	EFO	5	EFO	disease	Bulbospinal muscular atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206701	"" []	4393182	\N	\N	EFO	6	EFO	disposition	Bulbospinal muscular atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206701	"" []	5411693	\N	\N	EFO	7	EFO	material property	Bulbospinal muscular atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206701	"" []	6148882	\N	\N	EFO	8	EFO	experimental factor	Bulbospinal muscular atrophy
Orphanet:206704	\N	\N	"" []	Orphanet:206704	"" []	74403	\N	\N	EFO	0	EFO	Bulbospinal muscular atrophy of children	Bulbospinal muscular atrophy of children
Orphanet:206701	Orphanet:206704	\N	"" []	Orphanet:206704	"" []	216339	\N	\N	EFO	1	EFO	Bulbospinal muscular atrophy	Bulbospinal muscular atrophy of children
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:206704	"" []	570740	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Bulbospinal muscular atrophy of children
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:206704	"" []	1152763	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Bulbospinal muscular atrophy of children
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206704	"" []	2035247	\N	\N	EFO	4	EFO	muscular disease	Bulbospinal muscular atrophy of children
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206704	"" []	2035248	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Bulbospinal muscular atrophy of children
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206704	"" []	3185687	\N	\N	EFO	5	EFO	skeletal system disease	Bulbospinal muscular atrophy of children
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206704	"" []	3185688	\N	\N	EFO	5	EFO	genetic disorder	Bulbospinal muscular atrophy of children
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206704	"" []	4393183	\N	\N	EFO	6	EFO	disease	Bulbospinal muscular atrophy of children
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206704	"" []	4393184	\N	\N	EFO	6	EFO	disease	Bulbospinal muscular atrophy of children
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206704	"" []	5411694	\N	\N	EFO	7	EFO	disposition	Bulbospinal muscular atrophy of children
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206704	"" []	6148883	\N	\N	EFO	8	EFO	material property	Bulbospinal muscular atrophy of children
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206704	"" []	6632421	\N	\N	EFO	9	EFO	experimental factor	Bulbospinal muscular atrophy of children
Orphanet:206707	\N	\N	"" []	Orphanet:206707	"" []	74404	\N	\N	EFO	0	EFO	Bulbospinal muscular atrophy of adult	Bulbospinal muscular atrophy of adult
Orphanet:206701	Orphanet:206707	\N	"" []	Orphanet:206707	"" []	216340	\N	\N	EFO	1	EFO	Bulbospinal muscular atrophy	Bulbospinal muscular atrophy of adult
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:206707	"" []	570741	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Bulbospinal muscular atrophy of adult
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:206707	"" []	1152764	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Bulbospinal muscular atrophy of adult
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206707	"" []	2035249	\N	\N	EFO	4	EFO	muscular disease	Bulbospinal muscular atrophy of adult
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206707	"" []	2035250	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Bulbospinal muscular atrophy of adult
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206707	"" []	3185689	\N	\N	EFO	5	EFO	skeletal system disease	Bulbospinal muscular atrophy of adult
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206707	"" []	3185690	\N	\N	EFO	5	EFO	genetic disorder	Bulbospinal muscular atrophy of adult
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206707	"" []	4393185	\N	\N	EFO	6	EFO	disease	Bulbospinal muscular atrophy of adult
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206707	"" []	4393186	\N	\N	EFO	6	EFO	disease	Bulbospinal muscular atrophy of adult
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206707	"" []	5411695	\N	\N	EFO	7	EFO	disposition	Bulbospinal muscular atrophy of adult
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206707	"" []	6148884	\N	\N	EFO	8	EFO	material property	Bulbospinal muscular atrophy of adult
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206707	"" []	6632422	\N	\N	EFO	9	EFO	experimental factor	Bulbospinal muscular atrophy of adult
Orphanet:206710	\N	\N	"" []	Orphanet:206710	"" []	74405	\N	\N	EFO	0	EFO	Generalized bulbospinal muscular atrophy	Generalized bulbospinal muscular atrophy
Orphanet:206701	Orphanet:206710	\N	"" []	Orphanet:206710	"" []	216341	\N	\N	EFO	1	EFO	Bulbospinal muscular atrophy	Generalized bulbospinal muscular atrophy
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:206710	"" []	570742	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Generalized bulbospinal muscular atrophy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:206710	"" []	1152765	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Generalized bulbospinal muscular atrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206710	"" []	2035251	\N	\N	EFO	4	EFO	muscular disease	Generalized bulbospinal muscular atrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206710	"" []	2035252	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Generalized bulbospinal muscular atrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206710	"" []	3185691	\N	\N	EFO	5	EFO	skeletal system disease	Generalized bulbospinal muscular atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206710	"" []	3185692	\N	\N	EFO	5	EFO	genetic disorder	Generalized bulbospinal muscular atrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206710	"" []	4393187	\N	\N	EFO	6	EFO	disease	Generalized bulbospinal muscular atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206710	"" []	4393188	\N	\N	EFO	6	EFO	disease	Generalized bulbospinal muscular atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206710	"" []	5411696	\N	\N	EFO	7	EFO	disposition	Generalized bulbospinal muscular atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206710	"" []	6148885	\N	\N	EFO	8	EFO	material property	Generalized bulbospinal muscular atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206710	"" []	6632423	\N	\N	EFO	9	EFO	experimental factor	Generalized bulbospinal muscular atrophy
Orphanet:206713	\N	\N	"" []	Orphanet:206713	"" []	74406	\N	\N	EFO	0	EFO	Distal spinal muscular atrophy	Distal spinal muscular atrophy
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:206713	"" []	216342	\N	\N	EFO	1	EFO	Genetic motor neuron disease	Distal spinal muscular atrophy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:206713	"" []	570743	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Distal spinal muscular atrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206713	"" []	1152766	\N	\N	EFO	3	EFO	muscular disease	Distal spinal muscular atrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206713	"" []	1152767	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Distal spinal muscular atrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206713	"" []	2035253	\N	\N	EFO	4	EFO	skeletal system disease	Distal spinal muscular atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206713	"" []	2035254	\N	\N	EFO	4	EFO	genetic disorder	Distal spinal muscular atrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206713	"" []	3185693	\N	\N	EFO	5	EFO	disease	Distal spinal muscular atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206713	"" []	3185694	\N	\N	EFO	5	EFO	disease	Distal spinal muscular atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206713	"" []	4393189	\N	\N	EFO	6	EFO	disposition	Distal spinal muscular atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206713	"" []	5411697	\N	\N	EFO	7	EFO	material property	Distal spinal muscular atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206713	"" []	6148886	\N	\N	EFO	8	EFO	experimental factor	Distal spinal muscular atrophy
Orphanet:2069	\N	\N	"" []	Orphanet:2069	"" []	74407	\N	\N	EFO	0	EFO	Gastrocutaneous syndrome	Gastrocutaneous syndrome
Orphanet:183466	Orphanet:2069	\N	"" []	Orphanet:2069	"" []	216343	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Gastrocutaneous syndrome
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:2069	"" []	570744	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Gastrocutaneous syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:2069	"" []	1152768	\N	\N	EFO	3	EFO	Rare genetic skin disease	Gastrocutaneous syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2069	"" []	2035255	\N	\N	EFO	4	EFO	genetic disorder	Gastrocutaneous syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2069	"" []	2035256	\N	\N	EFO	4	EFO	skin disease	Gastrocutaneous syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2069	"" []	3185695	\N	\N	EFO	5	EFO	disease	Gastrocutaneous syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2069	"" []	3185696	\N	\N	EFO	5	EFO	disease	Gastrocutaneous syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2069	"" []	4393190	\N	\N	EFO	6	EFO	disposition	Gastrocutaneous syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2069	"" []	5411698	\N	\N	EFO	7	EFO	material property	Gastrocutaneous syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2069	"" []	6148887	\N	\N	EFO	8	EFO	experimental factor	Gastrocutaneous syndrome
Orphanet:206953	\N	\N	"" []	Orphanet:206953	"" []	74408	\N	\N	EFO	0	EFO	Muscular lipidosis	Muscular lipidosis
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:206953	"" []	216344	\N	\N	EFO	1	EFO	Metabolic myopathy	Muscular lipidosis
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:206953	"" []	570745	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Muscular lipidosis
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:206953	"" []	1152769	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Muscular lipidosis
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206953	"" []	2035257	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Muscular lipidosis
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206953	"" []	3185697	\N	\N	EFO	5	EFO	muscular disease	Muscular lipidosis
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206953	"" []	3185698	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Muscular lipidosis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206953	"" []	4393191	\N	\N	EFO	6	EFO	skeletal system disease	Muscular lipidosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206953	"" []	4393192	\N	\N	EFO	6	EFO	genetic disorder	Muscular lipidosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206953	"" []	5411699	\N	\N	EFO	7	EFO	disease	Muscular lipidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206953	"" []	5411700	\N	\N	EFO	7	EFO	disease	Muscular lipidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206953	"" []	6148888	\N	\N	EFO	8	EFO	disposition	Muscular lipidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206953	"" []	6632424	\N	\N	EFO	9	EFO	material property	Muscular lipidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206953	"" []	6925515	\N	\N	EFO	10	EFO	experimental factor	Muscular lipidosis
Orphanet:206959	\N	\N	"" []	Orphanet:206959	"" []	74409	\N	\N	EFO	0	EFO	Muscular glycogenosis	Muscular glycogenosis
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:206959	"" []	216345	\N	\N	EFO	1	EFO	Metabolic myopathy	Muscular glycogenosis
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:206959	"" []	570746	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Muscular glycogenosis
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:206959	"" []	1152770	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Muscular glycogenosis
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206959	"" []	2035258	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Muscular glycogenosis
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206959	"" []	3185699	\N	\N	EFO	5	EFO	muscular disease	Muscular glycogenosis
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206959	"" []	3185700	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Muscular glycogenosis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206959	"" []	4393193	\N	\N	EFO	6	EFO	skeletal system disease	Muscular glycogenosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206959	"" []	4393194	\N	\N	EFO	6	EFO	genetic disorder	Muscular glycogenosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206959	"" []	5411701	\N	\N	EFO	7	EFO	disease	Muscular glycogenosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206959	"" []	5411702	\N	\N	EFO	7	EFO	disease	Muscular glycogenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206959	"" []	6148889	\N	\N	EFO	8	EFO	disposition	Muscular glycogenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206959	"" []	6632425	\N	\N	EFO	9	EFO	material property	Muscular glycogenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206959	"" []	6925516	\N	\N	EFO	10	EFO	experimental factor	Muscular glycogenosis
Orphanet:206966	\N	\N	"" []	Orphanet:206966	"" []	74410	\N	\N	EFO	0	EFO	Mitochondrial myopathy	Mitochondrial myopathy
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:206966	"" []	216346	\N	\N	EFO	1	EFO	Muscular lipidosis	Mitochondrial myopathy
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:206966	"" []	570747	\N	\N	EFO	2	EFO	Metabolic myopathy	Mitochondrial myopathy
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:206966	"" []	1152771	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Mitochondrial myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:206966	"" []	2035259	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Mitochondrial myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206966	"" []	3185701	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Mitochondrial myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206966	"" []	4393195	\N	\N	EFO	6	EFO	muscular disease	Mitochondrial myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206966	"" []	4393196	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Mitochondrial myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206966	"" []	5411703	\N	\N	EFO	7	EFO	skeletal system disease	Mitochondrial myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206966	"" []	5411704	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206966	"" []	6148890	\N	\N	EFO	8	EFO	disease	Mitochondrial myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206966	"" []	6148891	\N	\N	EFO	8	EFO	disease	Mitochondrial myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206966	"" []	6632426	\N	\N	EFO	9	EFO	disposition	Mitochondrial myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206966	"" []	6925517	\N	\N	EFO	10	EFO	material property	Mitochondrial myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206966	"" []	7099042	\N	\N	EFO	11	EFO	experimental factor	Mitochondrial myopathy
Orphanet:206970	\N	\N	"" []	Orphanet:206970	"" []	74411	\N	\N	EFO	0	EFO	Myotonic syndrome	Myotonic syndrome
Orphanet:206634	Orphanet:206970	\N	"" []	Orphanet:206970	"" []	216347	\N	\N	EFO	1	EFO	Genetic skeletal muscle disease	Myotonic syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206970	"" []	570748	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Myotonic syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206970	"" []	1152772	\N	\N	EFO	3	EFO	muscular disease	Myotonic syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206970	"" []	1152773	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Myotonic syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206970	"" []	2035260	\N	\N	EFO	4	EFO	skeletal system disease	Myotonic syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206970	"" []	2035261	\N	\N	EFO	4	EFO	genetic disorder	Myotonic syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206970	"" []	3185702	\N	\N	EFO	5	EFO	disease	Myotonic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206970	"" []	3185703	\N	\N	EFO	5	EFO	disease	Myotonic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206970	"" []	4393197	\N	\N	EFO	6	EFO	disposition	Myotonic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206970	"" []	5411705	\N	\N	EFO	7	EFO	material property	Myotonic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206970	"" []	6148892	\N	\N	EFO	8	EFO	experimental factor	Myotonic syndrome
Orphanet:206973	\N	\N	"" []	Orphanet:206973	"" []	74412	\N	\N	EFO	0	EFO	Congenital myotonia	Congenital myotonia
Orphanet:206970	Orphanet:206973	\N	"" []	Orphanet:206973	"" []	216348	\N	\N	EFO	1	EFO	Myotonic syndrome	Congenital myotonia
Orphanet:206634	Orphanet:206970	\N	"" []	Orphanet:206973	"" []	570749	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Congenital myotonia
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:206973	"" []	1152774	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Congenital myotonia
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:206973	"" []	2035262	\N	\N	EFO	4	EFO	muscular disease	Congenital myotonia
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:206973	"" []	2035263	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital myotonia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:206973	"" []	3185704	\N	\N	EFO	5	EFO	skeletal system disease	Congenital myotonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:206973	"" []	3185705	\N	\N	EFO	5	EFO	genetic disorder	Congenital myotonia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206973	"" []	4393198	\N	\N	EFO	6	EFO	disease	Congenital myotonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:206973	"" []	4393199	\N	\N	EFO	6	EFO	disease	Congenital myotonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:206973	"" []	5411706	\N	\N	EFO	7	EFO	disposition	Congenital myotonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:206973	"" []	6148893	\N	\N	EFO	8	EFO	material property	Congenital myotonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:206973	"" []	6632427	\N	\N	EFO	9	EFO	experimental factor	Congenital myotonia
Orphanet:207	\N	\N	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	74413	\N	\N	EFO	0	EFO	Crouzon disease	Crouzon disease
Orphanet:139393	Orphanet:207	\N	"" []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	216349	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Crouzon disease
Orphanet:98684	Orphanet:207	\N	"" []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	216350	\N	\N	EFO	1	EFO	Craniostenosis associated with a strabismus	Crouzon disease
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	570750	\N	\N	EFO	2	EFO	Craniosynostosis	Crouzon disease
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	570751	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Crouzon disease
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	1152775	\N	\N	EFO	3	EFO	Genetic cranial malformation	Crouzon disease
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	1152776	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Crouzon disease
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	1152777	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Crouzon disease
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	2035264	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Crouzon disease
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	2035265	\N	\N	EFO	4	EFO	Rare genetic bone disease	Crouzon disease
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	2035266	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Crouzon disease
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	2035267	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Crouzon disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	4393202	\N	\N	EFO	6	EFO	genetic disorder	Crouzon disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	3185707	\N	\N	EFO	5	EFO	genetic disorder	Crouzon disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	3185708	\N	\N	EFO	5	EFO	bone disease	Crouzon disease
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	3185709	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Crouzon disease
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	3185710	\N	\N	EFO	5	EFO	Rare genetic eye disease	Crouzon disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	5181910	\N	\N	EFO	7	EFO	disease	Crouzon disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	4393201	\N	\N	EFO	6	EFO	skeletal system disease	Crouzon disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	4393203	\N	\N	EFO	6	EFO	genetic disorder	Crouzon disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	4393204	\N	\N	EFO	6	EFO	eye disease	Crouzon disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	5997291	\N	\N	EFO	8	EFO	disposition	Crouzon disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	5411708	\N	\N	EFO	7	EFO	disease	Crouzon disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	5411709	\N	\N	EFO	7	EFO	disease	Crouzon disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	6550762	\N	\N	EFO	9	EFO	material property	Crouzon disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207	"Crouzon disease is characterized by craniosynostosis and facial hypoplasia." []	6889107	\N	\N	EFO	10	EFO	experimental factor	Crouzon disease
Orphanet:207012	\N	\N	"" []	Orphanet:207012	"" []	74414	\N	\N	EFO	0	EFO	Spinal muscular atrophy associated with central nervous system anomaly	Spinal muscular atrophy associated with central nervous system anomaly
Orphanet:206701	Orphanet:207012	\N	"" []	Orphanet:207012	"" []	216351	\N	\N	EFO	1	EFO	Bulbospinal muscular atrophy	Spinal muscular atrophy associated with central nervous system anomaly
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:207012	"" []	570752	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Spinal muscular atrophy associated with central nervous system anomaly
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:207012	"" []	1152778	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Spinal muscular atrophy associated with central nervous system anomaly
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207012	"" []	2035268	\N	\N	EFO	4	EFO	muscular disease	Spinal muscular atrophy associated with central nervous system anomaly
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207012	"" []	2035269	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinal muscular atrophy associated with central nervous system anomaly
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207012	"" []	3185711	\N	\N	EFO	5	EFO	skeletal system disease	Spinal muscular atrophy associated with central nervous system anomaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207012	"" []	3185712	\N	\N	EFO	5	EFO	genetic disorder	Spinal muscular atrophy associated with central nervous system anomaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207012	"" []	4393205	\N	\N	EFO	6	EFO	disease	Spinal muscular atrophy associated with central nervous system anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207012	"" []	4393206	\N	\N	EFO	6	EFO	disease	Spinal muscular atrophy associated with central nervous system anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207012	"" []	5411710	\N	\N	EFO	7	EFO	disposition	Spinal muscular atrophy associated with central nervous system anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207012	"" []	6148895	\N	\N	EFO	8	EFO	material property	Spinal muscular atrophy associated with central nervous system anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207012	"" []	6632429	\N	\N	EFO	9	EFO	experimental factor	Spinal muscular atrophy associated with central nervous system anomaly
Orphanet:207015	\N	\N	"" []	Orphanet:207015	"" []	74415	\N	\N	EFO	0	EFO	Rare hereditary disease with peripheral neuropathy	Rare hereditary disease with peripheral neuropathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:207015	"" []	216352	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Rare hereditary disease with peripheral neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:207015	"" []	570753	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Rare hereditary disease with peripheral neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207015	"" []	1152779	\N	\N	EFO	3	EFO	genetic disorder	Rare hereditary disease with peripheral neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207015	"" []	2035270	\N	\N	EFO	4	EFO	disease	Rare hereditary disease with peripheral neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207015	"" []	3185713	\N	\N	EFO	5	EFO	disposition	Rare hereditary disease with peripheral neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207015	"" []	4393207	\N	\N	EFO	6	EFO	material property	Rare hereditary disease with peripheral neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207015	"" []	5411711	\N	\N	EFO	7	EFO	experimental factor	Rare hereditary disease with peripheral neuropathy
Orphanet:207018	\N	\N	"" []	Orphanet:207018	"" []	74416	\N	\N	EFO	0	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Rare hereditary metabolic disease with peripheral neuropathy
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:207018	"" []	216353	\N	\N	EFO	1	EFO	Rare hereditary disease with peripheral neuropathy	Rare hereditary metabolic disease with peripheral neuropathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:207018	"" []	570754	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Rare hereditary metabolic disease with peripheral neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:207018	"" []	1152780	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Rare hereditary metabolic disease with peripheral neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207018	"" []	2035271	\N	\N	EFO	4	EFO	genetic disorder	Rare hereditary metabolic disease with peripheral neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207018	"" []	3185714	\N	\N	EFO	5	EFO	disease	Rare hereditary metabolic disease with peripheral neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207018	"" []	4393208	\N	\N	EFO	6	EFO	disposition	Rare hereditary metabolic disease with peripheral neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207018	"" []	5411712	\N	\N	EFO	7	EFO	material property	Rare hereditary metabolic disease with peripheral neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207018	"" []	6148896	\N	\N	EFO	8	EFO	experimental factor	Rare hereditary metabolic disease with peripheral neuropathy
Orphanet:207021	\N	\N	"" []	Orphanet:207021	"" []	74417	\N	\N	EFO	0	EFO	Rare hereditary systemic disease with peripheral neuropathy	Rare hereditary systemic disease with peripheral neuropathy
Orphanet:207015	Orphanet:207021	\N	"" []	Orphanet:207021	"" []	216354	\N	\N	EFO	1	EFO	Rare hereditary disease with peripheral neuropathy	Rare hereditary systemic disease with peripheral neuropathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:207021	"" []	570755	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Rare hereditary systemic disease with peripheral neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:207021	"" []	1152781	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Rare hereditary systemic disease with peripheral neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207021	"" []	2035272	\N	\N	EFO	4	EFO	genetic disorder	Rare hereditary systemic disease with peripheral neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207021	"" []	3185715	\N	\N	EFO	5	EFO	disease	Rare hereditary systemic disease with peripheral neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207021	"" []	4393209	\N	\N	EFO	6	EFO	disposition	Rare hereditary systemic disease with peripheral neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207021	"" []	5411713	\N	\N	EFO	7	EFO	material property	Rare hereditary systemic disease with peripheral neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207021	"" []	6148897	\N	\N	EFO	8	EFO	experimental factor	Rare hereditary systemic disease with peripheral neuropathy
Orphanet:207025	\N	\N	"" []	Orphanet:207025	"" []	74418	\N	\N	EFO	0	EFO	Rare hereditary neurologic disease with peripheral neuropathy	Rare hereditary neurologic disease with peripheral neuropathy
Orphanet:207015	Orphanet:207025	\N	"" []	Orphanet:207025	"" []	216355	\N	\N	EFO	1	EFO	Rare hereditary disease with peripheral neuropathy	Rare hereditary neurologic disease with peripheral neuropathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:207025	"" []	570756	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Rare hereditary neurologic disease with peripheral neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:207025	"" []	1152782	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Rare hereditary neurologic disease with peripheral neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207025	"" []	2035273	\N	\N	EFO	4	EFO	genetic disorder	Rare hereditary neurologic disease with peripheral neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207025	"" []	3185716	\N	\N	EFO	5	EFO	disease	Rare hereditary neurologic disease with peripheral neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207025	"" []	4393210	\N	\N	EFO	6	EFO	disposition	Rare hereditary neurologic disease with peripheral neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207025	"" []	5411714	\N	\N	EFO	7	EFO	material property	Rare hereditary neurologic disease with peripheral neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207025	"" []	6148898	\N	\N	EFO	8	EFO	experimental factor	Rare hereditary neurologic disease with peripheral neuropathy
Orphanet:207028	\N	\N	"" []	Orphanet:207028	"" []	74419	\N	\N	EFO	0	EFO	Cerebellar ataxia with peripheral neuropathy	Cerebellar ataxia with peripheral neuropathy
Orphanet:207025	Orphanet:207028	\N	"" []	Orphanet:207028	"" []	216356	\N	\N	EFO	1	EFO	Rare hereditary neurologic disease with peripheral neuropathy	Cerebellar ataxia with peripheral neuropathy
Orphanet:207015	Orphanet:207025	\N	"" []	Orphanet:207028	"" []	570757	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Cerebellar ataxia with peripheral neuropathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:207028	"" []	1152783	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Cerebellar ataxia with peripheral neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:207028	"" []	2035274	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cerebellar ataxia with peripheral neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207028	"" []	3185717	\N	\N	EFO	5	EFO	genetic disorder	Cerebellar ataxia with peripheral neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207028	"" []	4393211	\N	\N	EFO	6	EFO	disease	Cerebellar ataxia with peripheral neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207028	"" []	5411715	\N	\N	EFO	7	EFO	disposition	Cerebellar ataxia with peripheral neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207028	"" []	6148899	\N	\N	EFO	8	EFO	material property	Cerebellar ataxia with peripheral neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207028	"" []	6632430	\N	\N	EFO	9	EFO	experimental factor	Cerebellar ataxia with peripheral neuropathy
Orphanet:207031	\N	\N	"" []	Orphanet:207031	"" []	74420	\N	\N	EFO	0	EFO	Rare disease with corpus callosum agenesis associated with peripheral neuropathy	Rare disease with corpus callosum agenesis associated with peripheral neuropathy
Orphanet:207025	Orphanet:207031	\N	"" []	Orphanet:207031	"" []	216357	\N	\N	EFO	1	EFO	Rare hereditary neurologic disease with peripheral neuropathy	Rare disease with corpus callosum agenesis associated with peripheral neuropathy
Orphanet:207015	Orphanet:207025	\N	"" []	Orphanet:207031	"" []	570758	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Rare disease with corpus callosum agenesis associated with peripheral neuropathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:207031	"" []	1152784	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Rare disease with corpus callosum agenesis associated with peripheral neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:207031	"" []	2035275	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Rare disease with corpus callosum agenesis associated with peripheral neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207031	"" []	3185718	\N	\N	EFO	5	EFO	genetic disorder	Rare disease with corpus callosum agenesis associated with peripheral neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207031	"" []	4393212	\N	\N	EFO	6	EFO	disease	Rare disease with corpus callosum agenesis associated with peripheral neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207031	"" []	5411716	\N	\N	EFO	7	EFO	disposition	Rare disease with corpus callosum agenesis associated with peripheral neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207031	"" []	6148900	\N	\N	EFO	8	EFO	material property	Rare disease with corpus callosum agenesis associated with peripheral neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207031	"" []	6632431	\N	\N	EFO	9	EFO	experimental factor	Rare disease with corpus callosum agenesis associated with peripheral neuropathy
Orphanet:207049	\N	\N	"" []	Orphanet:207049	"" []	74421	\N	\N	EFO	0	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative protein defects in neuromuscular diseases
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207049	"" []	216358	\N	\N	EFO	1	EFO	Genetic neuromuscular disease	Qualitative or quantitative protein defects in neuromuscular diseases
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207049	"" []	570759	\N	\N	EFO	2	EFO	muscular disease	Qualitative or quantitative protein defects in neuromuscular diseases
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207049	"" []	570760	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Qualitative or quantitative protein defects in neuromuscular diseases
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207049	"" []	1152785	\N	\N	EFO	3	EFO	skeletal system disease	Qualitative or quantitative protein defects in neuromuscular diseases
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207049	"" []	1152786	\N	\N	EFO	3	EFO	genetic disorder	Qualitative or quantitative protein defects in neuromuscular diseases
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207049	"" []	2035276	\N	\N	EFO	4	EFO	disease	Qualitative or quantitative protein defects in neuromuscular diseases
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207049	"" []	2035277	\N	\N	EFO	4	EFO	disease	Qualitative or quantitative protein defects in neuromuscular diseases
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207049	"" []	3185719	\N	\N	EFO	5	EFO	disposition	Qualitative or quantitative protein defects in neuromuscular diseases
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207049	"" []	4393213	\N	\N	EFO	6	EFO	material property	Qualitative or quantitative protein defects in neuromuscular diseases
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207049	"" []	5411717	\N	\N	EFO	7	EFO	experimental factor	Qualitative or quantitative protein defects in neuromuscular diseases
Orphanet:207052	\N	\N	"" []	Orphanet:207052	"" []	74422	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of sarcoglycan	Qualitative or quantitative defects of sarcoglycan
Orphanet:207049	Orphanet:207052	\N	"" []	Orphanet:207052	"" []	216359	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of sarcoglycan
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207052	"" []	570761	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of sarcoglycan
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207052	"" []	1152787	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of sarcoglycan
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207052	"" []	1152788	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of sarcoglycan
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207052	"" []	2035278	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of sarcoglycan
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207052	"" []	2035279	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of sarcoglycan
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207052	"" []	3185720	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of sarcoglycan
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207052	"" []	3185721	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of sarcoglycan
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207052	"" []	4393214	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of sarcoglycan
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207052	"" []	5411718	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of sarcoglycan
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207052	"" []	6148901	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of sarcoglycan
Orphanet:207060	\N	\N	"" []	Orphanet:207060	"" []	74423	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of alpha-sarcoglycan	Qualitative or quantitative defects of alpha-sarcoglycan
Orphanet:207052	Orphanet:207060	\N	"" []	Orphanet:207060	"" []	216360	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of sarcoglycan	Qualitative or quantitative defects of alpha-sarcoglycan
Orphanet:207049	Orphanet:207052	\N	"" []	Orphanet:207060	"" []	570762	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of alpha-sarcoglycan
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207060	"" []	1152789	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of alpha-sarcoglycan
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207060	"" []	2035280	\N	\N	EFO	4	EFO	muscular disease	Qualitative or quantitative defects of alpha-sarcoglycan
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207060	"" []	2035281	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of alpha-sarcoglycan
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207060	"" []	3185722	\N	\N	EFO	5	EFO	skeletal system disease	Qualitative or quantitative defects of alpha-sarcoglycan
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207060	"" []	3185723	\N	\N	EFO	5	EFO	genetic disorder	Qualitative or quantitative defects of alpha-sarcoglycan
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207060	"" []	4393215	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of alpha-sarcoglycan
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207060	"" []	4393216	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of alpha-sarcoglycan
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207060	"" []	5411719	\N	\N	EFO	7	EFO	disposition	Qualitative or quantitative defects of alpha-sarcoglycan
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207060	"" []	6148902	\N	\N	EFO	8	EFO	material property	Qualitative or quantitative defects of alpha-sarcoglycan
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207060	"" []	6632432	\N	\N	EFO	9	EFO	experimental factor	Qualitative or quantitative defects of alpha-sarcoglycan
Orphanet:207063	\N	\N	"" []	Orphanet:207063	"" []	74424	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of beta-sarcoglycan	Qualitative or quantitative defects of beta-sarcoglycan
Orphanet:207052	Orphanet:207063	\N	"" []	Orphanet:207063	"" []	216361	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of sarcoglycan	Qualitative or quantitative defects of beta-sarcoglycan
Orphanet:207049	Orphanet:207052	\N	"" []	Orphanet:207063	"" []	570763	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of beta-sarcoglycan
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207063	"" []	1152790	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of beta-sarcoglycan
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207063	"" []	2035282	\N	\N	EFO	4	EFO	muscular disease	Qualitative or quantitative defects of beta-sarcoglycan
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207063	"" []	2035283	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of beta-sarcoglycan
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207063	"" []	3185724	\N	\N	EFO	5	EFO	skeletal system disease	Qualitative or quantitative defects of beta-sarcoglycan
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207063	"" []	3185725	\N	\N	EFO	5	EFO	genetic disorder	Qualitative or quantitative defects of beta-sarcoglycan
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207063	"" []	4393217	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of beta-sarcoglycan
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207063	"" []	4393218	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of beta-sarcoglycan
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207063	"" []	5411720	\N	\N	EFO	7	EFO	disposition	Qualitative or quantitative defects of beta-sarcoglycan
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207063	"" []	6148903	\N	\N	EFO	8	EFO	material property	Qualitative or quantitative defects of beta-sarcoglycan
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207063	"" []	6632433	\N	\N	EFO	9	EFO	experimental factor	Qualitative or quantitative defects of beta-sarcoglycan
Orphanet:207067	\N	\N	"" []	Orphanet:207067	"" []	74425	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of gamma-sarcoglycan	Qualitative or quantitative defects of gamma-sarcoglycan
Orphanet:207052	Orphanet:207067	\N	"" []	Orphanet:207067	"" []	216362	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of sarcoglycan	Qualitative or quantitative defects of gamma-sarcoglycan
Orphanet:207049	Orphanet:207052	\N	"" []	Orphanet:207067	"" []	570764	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of gamma-sarcoglycan
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207067	"" []	1152791	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of gamma-sarcoglycan
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207067	"" []	2035284	\N	\N	EFO	4	EFO	muscular disease	Qualitative or quantitative defects of gamma-sarcoglycan
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207067	"" []	2035285	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of gamma-sarcoglycan
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207067	"" []	3185726	\N	\N	EFO	5	EFO	skeletal system disease	Qualitative or quantitative defects of gamma-sarcoglycan
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207067	"" []	3185727	\N	\N	EFO	5	EFO	genetic disorder	Qualitative or quantitative defects of gamma-sarcoglycan
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207067	"" []	4393219	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of gamma-sarcoglycan
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207067	"" []	4393220	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of gamma-sarcoglycan
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207067	"" []	5411721	\N	\N	EFO	7	EFO	disposition	Qualitative or quantitative defects of gamma-sarcoglycan
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207067	"" []	6148904	\N	\N	EFO	8	EFO	material property	Qualitative or quantitative defects of gamma-sarcoglycan
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207067	"" []	6632434	\N	\N	EFO	9	EFO	experimental factor	Qualitative or quantitative defects of gamma-sarcoglycan
Orphanet:207070	\N	\N	"" []	Orphanet:207070	"" []	74426	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of delta-sarcoglycan	Qualitative or quantitative defects of delta-sarcoglycan
Orphanet:207052	Orphanet:207070	\N	"" []	Orphanet:207070	"" []	216363	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of sarcoglycan	Qualitative or quantitative defects of delta-sarcoglycan
Orphanet:207049	Orphanet:207052	\N	"" []	Orphanet:207070	"" []	570765	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of delta-sarcoglycan
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207070	"" []	1152792	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of delta-sarcoglycan
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207070	"" []	2035286	\N	\N	EFO	4	EFO	muscular disease	Qualitative or quantitative defects of delta-sarcoglycan
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207070	"" []	2035287	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of delta-sarcoglycan
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207070	"" []	3185728	\N	\N	EFO	5	EFO	skeletal system disease	Qualitative or quantitative defects of delta-sarcoglycan
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207070	"" []	3185729	\N	\N	EFO	5	EFO	genetic disorder	Qualitative or quantitative defects of delta-sarcoglycan
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207070	"" []	4393221	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of delta-sarcoglycan
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207070	"" []	4393222	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of delta-sarcoglycan
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207070	"" []	5411722	\N	\N	EFO	7	EFO	disposition	Qualitative or quantitative defects of delta-sarcoglycan
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207070	"" []	6148905	\N	\N	EFO	8	EFO	material property	Qualitative or quantitative defects of delta-sarcoglycan
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207070	"" []	6632435	\N	\N	EFO	9	EFO	experimental factor	Qualitative or quantitative defects of delta-sarcoglycan
Orphanet:207073	\N	\N	"" []	Orphanet:207073	"" []	74427	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of dysferlin	Qualitative or quantitative defects of dysferlin
Orphanet:207049	Orphanet:207073	\N	"" []	Orphanet:207073	"" []	216364	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of dysferlin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207073	"" []	570766	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of dysferlin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207073	"" []	1152793	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of dysferlin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207073	"" []	1152794	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of dysferlin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207073	"" []	2035288	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of dysferlin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207073	"" []	2035289	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of dysferlin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207073	"" []	3185730	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of dysferlin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207073	"" []	3185731	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of dysferlin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207073	"" []	4393223	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of dysferlin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207073	"" []	5411723	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of dysferlin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207073	"" []	6148906	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of dysferlin
Orphanet:207078	\N	\N	"" []	Orphanet:207078	"" []	74428	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of caveolin-3	Qualitative or quantitative defects of caveolin-3
Orphanet:207049	Orphanet:207078	\N	"" []	Orphanet:207078	"" []	216365	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of caveolin-3
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207078	"" []	570767	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of caveolin-3
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207078	"" []	1152795	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of caveolin-3
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207078	"" []	1152796	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of caveolin-3
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207078	"" []	2035290	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of caveolin-3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207078	"" []	2035291	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of caveolin-3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207078	"" []	3185732	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of caveolin-3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207078	"" []	3185733	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of caveolin-3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207078	"" []	4393224	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of caveolin-3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207078	"" []	5411724	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of caveolin-3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207078	"" []	6148907	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of caveolin-3
Orphanet:207085	\N	\N	"" []	Orphanet:207085	"" []	74429	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of dystrophin	Qualitative or quantitative defects of dystrophin
Orphanet:207049	Orphanet:207085	\N	"" []	Orphanet:207085	"" []	216366	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of dystrophin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207085	"" []	570768	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of dystrophin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207085	"" []	1152797	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of dystrophin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207085	"" []	1152798	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of dystrophin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207085	"" []	2035292	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of dystrophin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207085	"" []	2035293	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of dystrophin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207085	"" []	3185734	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of dystrophin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207085	"" []	3185735	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of dystrophin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207085	"" []	4393225	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of dystrophin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207085	"" []	5411725	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of dystrophin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207085	"" []	6148908	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of dystrophin
Orphanet:207090	\N	\N	"" []	Orphanet:207090	"" []	74430	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of collagen 6	Qualitative or quantitative defects of collagen 6
Orphanet:207049	Orphanet:207090	\N	"" []	Orphanet:207090	"" []	216367	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of collagen 6
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207090	"" []	570769	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of collagen 6
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207090	"" []	1152799	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of collagen 6
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207090	"" []	1152800	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of collagen 6
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207090	"" []	2035294	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of collagen 6
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207090	"" []	2035295	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of collagen 6
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207090	"" []	3185736	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of collagen 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207090	"" []	3185737	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of collagen 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207090	"" []	4393226	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of collagen 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207090	"" []	5411726	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of collagen 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207090	"" []	6148909	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of collagen 6
Orphanet:207094	\N	\N	"" []	Orphanet:207094	"" []	74431	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of merosin	Qualitative or quantitative defects of merosin
Orphanet:207049	Orphanet:207094	\N	"" []	Orphanet:207094	"" []	216368	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of merosin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207094	"" []	570770	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of merosin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207094	"" []	1152801	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of merosin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207094	"" []	1152802	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of merosin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207094	"" []	2035296	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of merosin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207094	"" []	2035297	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of merosin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207094	"" []	3185738	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of merosin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207094	"" []	3185739	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of merosin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207094	"" []	4393227	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of merosin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207094	"" []	5411727	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of merosin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207094	"" []	6148910	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of merosin
Orphanet:207098	\N	\N	"" []	Orphanet:207098	"" []	74432	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of integrin alpha-7	Qualitative or quantitative defects of integrin alpha-7
Orphanet:207049	Orphanet:207098	\N	"" []	Orphanet:207098	"" []	216369	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of integrin alpha-7
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207098	"" []	570771	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of integrin alpha-7
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207098	"" []	1152803	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of integrin alpha-7
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207098	"" []	1152804	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of integrin alpha-7
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207098	"" []	2035298	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of integrin alpha-7
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207098	"" []	2035299	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of integrin alpha-7
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207098	"" []	3185740	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of integrin alpha-7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207098	"" []	3185741	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of integrin alpha-7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207098	"" []	4393228	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of integrin alpha-7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207098	"" []	5411728	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of integrin alpha-7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207098	"" []	6148911	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of integrin alpha-7
Orphanet:207101	\N	\N	"" []	Orphanet:207101	"" []	74433	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of perlecan	Qualitative or quantitative defects of perlecan
Orphanet:207049	Orphanet:207101	\N	"" []	Orphanet:207101	"" []	216370	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of perlecan
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207101	"" []	570772	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of perlecan
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207101	"" []	1152805	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of perlecan
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207101	"" []	1152806	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of perlecan
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207101	"" []	2035300	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of perlecan
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207101	"" []	2035301	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of perlecan
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207101	"" []	3185742	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of perlecan
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207101	"" []	3185743	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of perlecan
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207101	"" []	4393229	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of perlecan
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207101	"" []	5411729	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of perlecan
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207101	"" []	6148912	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of perlecan
Orphanet:207104	\N	\N	"" []	Orphanet:207104	"" []	74434	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of calpain	Qualitative or quantitative defects of calpain
Orphanet:207049	Orphanet:207104	\N	"" []	Orphanet:207104	"" []	216371	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of calpain
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207104	"" []	570773	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of calpain
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207104	"" []	1152807	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of calpain
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207104	"" []	1152808	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of calpain
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207104	"" []	2035302	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of calpain
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207104	"" []	2035303	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of calpain
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207104	"" []	3185744	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of calpain
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207104	"" []	3185745	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of calpain
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207104	"" []	4393230	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of calpain
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207104	"" []	5411730	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of calpain
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207104	"" []	6148913	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of calpain
Orphanet:207107	\N	\N	"" []	Orphanet:207107	"" []	74435	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of TRIM32	Qualitative or quantitative defects of TRIM32
Orphanet:207049	Orphanet:207107	\N	"" []	Orphanet:207107	"" []	216372	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of TRIM32
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207107	"" []	570774	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of TRIM32
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207107	"" []	1152809	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of TRIM32
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207107	"" []	1152810	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of TRIM32
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207107	"" []	2035304	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of TRIM32
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207107	"" []	2035305	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of TRIM32
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207107	"" []	3185746	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of TRIM32
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207107	"" []	3185747	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of TRIM32
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207107	"" []	4393231	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of TRIM32
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207107	"" []	5411731	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of TRIM32
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207107	"" []	6148914	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of TRIM32
Orphanet:207110	\N	\N	"" []	Orphanet:207110	"" []	74436	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of myotubularin	Qualitative or quantitative defects of myotubularin
Orphanet:207049	Orphanet:207110	\N	"" []	Orphanet:207110	"" []	216373	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of myotubularin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207110	"" []	570775	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of myotubularin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207110	"" []	1152811	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of myotubularin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207110	"" []	1152812	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of myotubularin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207110	"" []	2035306	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of myotubularin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207110	"" []	2035307	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of myotubularin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207110	"" []	3185748	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of myotubularin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207110	"" []	3185749	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of myotubularin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207110	"" []	4393232	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of myotubularin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207110	"" []	5411732	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of myotubularin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207110	"" []	6148915	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of myotubularin
Orphanet:207113	\N	\N	"" []	Orphanet:207113	"" []	74437	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:207113	"" []	216374	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:207113	"" []	570776	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207113	"" []	1152813	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207113	"" []	2035308	\N	\N	EFO	4	EFO	muscular disease	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207113	"" []	2035309	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207113	"" []	3185750	\N	\N	EFO	5	EFO	skeletal system disease	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207113	"" []	3185751	\N	\N	EFO	5	EFO	genetic disorder	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207113	"" []	4393233	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207113	"" []	4393234	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207113	"" []	5411733	\N	\N	EFO	7	EFO	disposition	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207113	"" []	6148916	\N	\N	EFO	8	EFO	material property	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207113	"" []	6632436	\N	\N	EFO	9	EFO	experimental factor	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Orphanet:207119	\N	\N	"" []	Orphanet:207119	"" []	74438	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of FKRP	Qualitative or quantitative defects of FKRP
Orphanet:207113	Orphanet:207119	\N	"" []	Orphanet:207119	"" []	216375	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Qualitative or quantitative defects of FKRP
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:207119	"" []	570777	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Qualitative or quantitative defects of FKRP
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:207119	"" []	1152814	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of FKRP
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207119	"" []	2035310	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of FKRP
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207119	"" []	3185752	\N	\N	EFO	5	EFO	muscular disease	Qualitative or quantitative defects of FKRP
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207119	"" []	3185753	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of FKRP
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207119	"" []	4393235	\N	\N	EFO	6	EFO	skeletal system disease	Qualitative or quantitative defects of FKRP
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207119	"" []	4393236	\N	\N	EFO	6	EFO	genetic disorder	Qualitative or quantitative defects of FKRP
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207119	"" []	5411734	\N	\N	EFO	7	EFO	disease	Qualitative or quantitative defects of FKRP
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207119	"" []	5411735	\N	\N	EFO	7	EFO	disease	Qualitative or quantitative defects of FKRP
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207119	"" []	6148917	\N	\N	EFO	8	EFO	disposition	Qualitative or quantitative defects of FKRP
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207119	"" []	6632437	\N	\N	EFO	9	EFO	material property	Qualitative or quantitative defects of FKRP
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207119	"" []	6925518	\N	\N	EFO	10	EFO	experimental factor	Qualitative or quantitative defects of FKRP
Orphanet:207122	\N	\N	"" []	Orphanet:207122	"" []	74439	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of fukutin	Qualitative or quantitative defects of fukutin
Orphanet:207113	Orphanet:207122	\N	"" []	Orphanet:207122	"" []	216376	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Qualitative or quantitative defects of fukutin
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:207122	"" []	570778	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Qualitative or quantitative defects of fukutin
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:207122	"" []	1152815	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of fukutin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:207122	"" []	2035311	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of fukutin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:207122	"" []	3185754	\N	\N	EFO	5	EFO	muscular disease	Qualitative or quantitative defects of fukutin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:207122	"" []	3185755	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of fukutin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:207122	"" []	4393237	\N	\N	EFO	6	EFO	skeletal system disease	Qualitative or quantitative defects of fukutin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:207122	"" []	4393238	\N	\N	EFO	6	EFO	genetic disorder	Qualitative or quantitative defects of fukutin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207122	"" []	5411736	\N	\N	EFO	7	EFO	disease	Qualitative or quantitative defects of fukutin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:207122	"" []	5411737	\N	\N	EFO	7	EFO	disease	Qualitative or quantitative defects of fukutin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:207122	"" []	6148918	\N	\N	EFO	8	EFO	disposition	Qualitative or quantitative defects of fukutin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:207122	"" []	6632438	\N	\N	EFO	9	EFO	material property	Qualitative or quantitative defects of fukutin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:207122	"" []	6925519	\N	\N	EFO	10	EFO	experimental factor	Qualitative or quantitative defects of fukutin
Orphanet:2072	\N	\N	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	74440	\N	\N	EFO	0	EFO	Gaucher disease - ophthalmoplegia - cardiovascular calcification	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:355	Orphanet:2072	\N	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	216377	\N	\N	EFO	1	EFO	Gaucher disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:217638	Orphanet:355	\N	"" []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	570779	\N	\N	EFO	2	EFO	Lysosomal disease with restrictive cardiomyopathy	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:79225	Orphanet:355	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	570780	\N	\N	EFO	2	EFO	Sphingolipidosis	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:98688	Orphanet:355	\N	"" []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	570781	\N	\N	EFO	2	EFO	Oculomotor apraxia or related oculomotor disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:98711	Orphanet:355	\N	"" []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	570782	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	1152816	\N	\N	EFO	3	EFO	Familial restrictive cardiomyopathy	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	1152817	\N	\N	EFO	3	EFO	Lysosomal disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	1152818	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	1152819	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	2035312	\N	\N	EFO	4	EFO	cardiomyopathy	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	2035313	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	2035314	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	2035315	\N	\N	EFO	4	EFO	Rare genetic eye disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	2035316	\N	\N	EFO	4	EFO	Rare genetic eye disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	3185756	\N	\N	EFO	5	EFO	heart disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	3185757	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	3185758	\N	\N	EFO	5	EFO	heart disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	3185759	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	3185760	\N	\N	EFO	5	EFO	metabolic disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	3185761	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	3185762	\N	\N	EFO	5	EFO	eye disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	4393239	\N	\N	EFO	6	EFO	cardiovascular disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	4393240	\N	\N	EFO	6	EFO	disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	4393241	\N	\N	EFO	6	EFO	disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	4393242	\N	\N	EFO	6	EFO	disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	5411738	\N	\N	EFO	7	EFO	disease	Gaucher disease - ophthalmoplegia - cardiovascular calcification
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	6148919	\N	\N	EFO	8	EFO	disposition	Gaucher disease - ophthalmoplegia - cardiovascular calcification
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	6550763	\N	\N	EFO	9	EFO	material property	Gaucher disease - ophthalmoplegia - cardiovascular calcification
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2072	"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." []	6889108	\N	\N	EFO	10	EFO	experimental factor	Gaucher disease - ophthalmoplegia - cardiovascular calcification
Orphanet:2075	\N	\N	"" []	Orphanet:2075	"" []	74441	\N	\N	EFO	0	EFO	Genito-palato-cardiac syndrome	Genito-palato-cardiac syndrome
Orphanet:139039	Orphanet:2075	\N	"" []	Orphanet:2075	"" []	216378	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Genito-palato-cardiac syndrome
Orphanet:330206	Orphanet:2075	\N	"" []	Orphanet:2075	"" []	216379	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Genito-palato-cardiac syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2075	"" []	570783	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Genito-palato-cardiac syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2075	"" []	570784	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Genito-palato-cardiac syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2075	"" []	1152820	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Genito-palato-cardiac syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2075	"" []	1152821	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Genito-palato-cardiac syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2075	"" []	2035317	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Genito-palato-cardiac syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2075	"" []	4393243	\N	\N	EFO	6	EFO	genetic disorder	Genito-palato-cardiac syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2075	"" []	3185763	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Genito-palato-cardiac syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2075	"" []	5059733	\N	\N	EFO	7	EFO	disease	Genito-palato-cardiac syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2075	"" []	5876938	\N	\N	EFO	8	EFO	disposition	Genito-palato-cardiac syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2075	"" []	6470141	\N	\N	EFO	9	EFO	material property	Genito-palato-cardiac syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2075	"" []	6848377	\N	\N	EFO	10	EFO	experimental factor	Genito-palato-cardiac syndrome
Orphanet:2076	\N	\N	"" []	Orphanet:2076	"" []	74442	\N	\N	EFO	0	EFO	X-linked intellectual disability - epilepsy	X-linked intellectual disability - epilepsy
Orphanet:166472	Orphanet:2076	\N	"" []	Orphanet:2076	"" []	216380	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	X-linked intellectual disability - epilepsy
Orphanet:98464	Orphanet:2076	\N	"" []	Orphanet:2076	"" []	216381	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:2076	"" []	570785	\N	\N	EFO	2	EFO	Rare genetic epilepsy	X-linked intellectual disability - epilepsy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2076	"" []	570786	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2076	"" []	1152822	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked intellectual disability - epilepsy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2076	"" []	1152823	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2076	"" []	3185766	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - epilepsy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2076	"" []	2035320	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2076	"" []	4133487	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2076	"" []	5181911	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2076	"" []	5997292	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2076	"" []	6550764	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - epilepsy
Orphanet:2077	\N	\N	"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." []	Orphanet:2077	"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." []	74443	\N	\N	EFO	0	EFO	German syndrome	German syndrome
Orphanet:89832	Orphanet:2077	\N	"" []	Orphanet:2077	"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." []	216382	\N	\N	EFO	1	EFO	Syndromic lymphedema	German syndrome
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:2077	"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." []	570787	\N	\N	EFO	2	EFO	Lymphedema	German syndrome
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:2077	"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." []	1152824	\N	\N	EFO	3	EFO	Rare genetic skin disease	German syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2077	"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." []	2035321	\N	\N	EFO	4	EFO	genetic disorder	German syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2077	"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." []	2035322	\N	\N	EFO	4	EFO	skin disease	German syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2077	"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." []	3185767	\N	\N	EFO	5	EFO	disease	German syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2077	"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." []	3185768	\N	\N	EFO	5	EFO	disease	German syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2077	"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." []	4393246	\N	\N	EFO	6	EFO	disposition	German syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2077	"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." []	5411742	\N	\N	EFO	7	EFO	material property	German syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2077	"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." []	6148923	\N	\N	EFO	8	EFO	experimental factor	German syndrome
Orphanet:2078	\N	\N	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	74444	\N	\N	EFO	0	EFO	Geroderma osteodysplastica	Geroderma osteodysplastica
Orphanet:209	Orphanet:2078	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	216383	\N	\N	EFO	1	EFO	Cutis laxa	Geroderma osteodysplastica
Orphanet:93446	Orphanet:2078	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	216384	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Geroderma osteodysplastica
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	570788	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Geroderma osteodysplastica
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	570789	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Geroderma osteodysplastica
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	570790	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Geroderma osteodysplastica
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	570791	\N	\N	EFO	2	EFO	Congenital entropion	Geroderma osteodysplastica
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	570792	\N	\N	EFO	2	EFO	Primary bone dysplasia	Geroderma osteodysplastica
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	1152825	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Geroderma osteodysplastica
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	1152826	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Geroderma osteodysplastica
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	1152827	\N	\N	EFO	3	EFO	Genetic dermis disorder	Geroderma osteodysplastica
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	1152828	\N	\N	EFO	3	EFO	Eyelids malposition disorder	Geroderma osteodysplastica
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	1152829	\N	\N	EFO	3	EFO	Rare genetic bone disease	Geroderma osteodysplastica
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	1152830	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Geroderma osteodysplastica
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	3185774	\N	\N	EFO	5	EFO	genetic disorder	Geroderma osteodysplastica
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	2035324	\N	\N	EFO	4	EFO	Rare genetic skin disease	Geroderma osteodysplastica
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	2035325	\N	\N	EFO	4	EFO	Rare palpebral disease	Geroderma osteodysplastica
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	2035326	\N	\N	EFO	4	EFO	genetic disorder	Geroderma osteodysplastica
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	2035327	\N	\N	EFO	4	EFO	bone disease	Geroderma osteodysplastica
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	2035328	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Geroderma osteodysplastica
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	6148925	\N	\N	EFO	8	EFO	disease	Geroderma osteodysplastica
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	3185770	\N	\N	EFO	5	EFO	genetic disorder	Geroderma osteodysplastica
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	3185771	\N	\N	EFO	5	EFO	skin disease	Geroderma osteodysplastica
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	3185772	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Geroderma osteodysplastica
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	3185773	\N	\N	EFO	5	EFO	skeletal system disease	Geroderma osteodysplastica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	6409922	\N	\N	EFO	9	EFO	disposition	Geroderma osteodysplastica
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	4393248	\N	\N	EFO	6	EFO	disease	Geroderma osteodysplastica
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	4393249	\N	\N	EFO	6	EFO	Rare genetic eye disease	Geroderma osteodysplastica
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	4393250	\N	\N	EFO	6	EFO	disease	Geroderma osteodysplastica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	6807766	\N	\N	EFO	10	EFO	material property	Geroderma osteodysplastica
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	5411744	\N	\N	EFO	7	EFO	genetic disorder	Geroderma osteodysplastica
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	5411745	\N	\N	EFO	7	EFO	eye disease	Geroderma osteodysplastica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	7048586	\N	\N	EFO	11	EFO	experimental factor	Geroderma osteodysplastica
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2078	"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." []	6148926	\N	\N	EFO	8	EFO	disease	Geroderma osteodysplastica
Orphanet:2083	\N	\N	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	74445	\N	\N	EFO	0	EFO	Prominent glabella - microcephaly - hypogenitalism	Prominent glabella - microcephaly - hypogenitalism
Orphanet:102283	Orphanet:2083	\N	"" []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	216385	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Prominent glabella - microcephaly - hypogenitalism
Orphanet:183763	Orphanet:2083	\N	"" []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	216386	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Prominent glabella - microcephaly - hypogenitalism
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	570793	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Prominent glabella - microcephaly - hypogenitalism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	570794	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Prominent glabella - microcephaly - hypogenitalism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	1152831	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Prominent glabella - microcephaly - hypogenitalism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	1152832	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Prominent glabella - microcephaly - hypogenitalism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	2035329	\N	\N	EFO	4	EFO	genetic disorder	Prominent glabella - microcephaly - hypogenitalism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	2035330	\N	\N	EFO	4	EFO	genetic disorder	Prominent glabella - microcephaly - hypogenitalism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	3185775	\N	\N	EFO	5	EFO	disease	Prominent glabella - microcephaly - hypogenitalism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	4393251	\N	\N	EFO	6	EFO	disposition	Prominent glabella - microcephaly - hypogenitalism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	5411746	\N	\N	EFO	7	EFO	material property	Prominent glabella - microcephaly - hypogenitalism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2083	"Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." []	6148927	\N	\N	EFO	8	EFO	experimental factor	Prominent glabella - microcephaly - hypogenitalism
Orphanet:2084	\N	\N	"" []	Orphanet:2084	"" []	74446	\N	\N	EFO	0	EFO	Glaucoma - ectopia - microspherophakia - stiff joints - short stature	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Orphanet:108987	Orphanet:2084	\N	"" []	Orphanet:2084	"" []	216387	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Orphanet:98652	Orphanet:2084	\N	"" []	Orphanet:2084	"" []	216388	\N	\N	EFO	1	EFO	Lens size anomaly	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2084	"" []	570795	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Orphanet:183607	Orphanet:98652	\N	"" []	Orphanet:2084	"" []	570796	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2084	"" []	1152833	\N	\N	EFO	3	EFO	Rare genetic eye disease	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2084	"" []	1152834	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:2084	"" []	1152835	\N	\N	EFO	3	EFO	Rare genetic eye disease	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2084	"" []	2035331	\N	\N	EFO	4	EFO	genetic disorder	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2084	"" []	2035332	\N	\N	EFO	4	EFO	eye disease	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2084	"" []	2035333	\N	\N	EFO	4	EFO	genetic disorder	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2084	"" []	3185776	\N	\N	EFO	5	EFO	disease	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2084	"" []	3185777	\N	\N	EFO	5	EFO	disease	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2084	"" []	4393252	\N	\N	EFO	6	EFO	disposition	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2084	"" []	5411747	\N	\N	EFO	7	EFO	material property	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2084	"" []	6148928	\N	\N	EFO	8	EFO	experimental factor	Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Orphanet:208441	\N	\N	"" []	Orphanet:208441	"" []	74447	\N	\N	EFO	0	EFO	Bilateral parasagittal parieto-occipital polymicrogyria	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:268940	Orphanet:208441	\N	"" []	Orphanet:208441	"" []	216389	\N	\N	EFO	1	EFO	Bilateral polymicrogyria	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:35981	Orphanet:268940	\N	"" []	Orphanet:208441	"" []	570797	\N	\N	EFO	2	EFO	Polymicrogyria	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:163209	Orphanet:35981	\N	"" []	Orphanet:208441	"" []	1152836	\N	\N	EFO	3	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:183763	Orphanet:35981	\N	"" []	Orphanet:208441	"" []	1152837	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:208441	"" []	2035334	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:208441	"" []	2035335	\N	\N	EFO	4	EFO	Genetic cerebral malformation	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:208441	"" []	2035336	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:208441	"" []	3185778	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:208441	"" []	3185779	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:208441	"" []	3185780	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:208441	"" []	4393253	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:208441	"" []	4393254	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Bilateral parasagittal parieto-occipital polymicrogyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208441	"" []	6148930	\N	\N	EFO	8	EFO	genetic disorder	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:208441	"" []	5411749	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:208441	"" []	5411750	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Bilateral parasagittal parieto-occipital polymicrogyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208441	"" []	6470142	\N	\N	EFO	9	EFO	disease	Bilateral parasagittal parieto-occipital polymicrogyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208441	"" []	6148929	\N	\N	EFO	8	EFO	genetic disorder	Bilateral parasagittal parieto-occipital polymicrogyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:208441	"" []	6848378	\N	\N	EFO	10	EFO	disposition	Bilateral parasagittal parieto-occipital polymicrogyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:208441	"" []	7068408	\N	\N	EFO	11	EFO	material property	Bilateral parasagittal parieto-occipital polymicrogyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:208441	"" []	7197157	\N	\N	EFO	12	EFO	experimental factor	Bilateral parasagittal parieto-occipital polymicrogyria
Orphanet:208444	\N	\N	"" []	Orphanet:208444	"" []	74448	\N	\N	EFO	0	EFO	Bilateral frontal polymicrogyria	Bilateral frontal polymicrogyria
Orphanet:268940	Orphanet:208444	\N	"" []	Orphanet:208444	"" []	216390	\N	\N	EFO	1	EFO	Bilateral polymicrogyria	Bilateral frontal polymicrogyria
Orphanet:35981	Orphanet:268940	\N	"" []	Orphanet:208444	"" []	570798	\N	\N	EFO	2	EFO	Polymicrogyria	Bilateral frontal polymicrogyria
Orphanet:163209	Orphanet:35981	\N	"" []	Orphanet:208444	"" []	1152838	\N	\N	EFO	3	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Bilateral frontal polymicrogyria
Orphanet:183763	Orphanet:35981	\N	"" []	Orphanet:208444	"" []	1152839	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Bilateral frontal polymicrogyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:208444	"" []	2035337	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Bilateral frontal polymicrogyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:208444	"" []	2035338	\N	\N	EFO	4	EFO	Genetic cerebral malformation	Bilateral frontal polymicrogyria
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:208444	"" []	2035339	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Bilateral frontal polymicrogyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:208444	"" []	3185781	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Bilateral frontal polymicrogyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:208444	"" []	3185782	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Bilateral frontal polymicrogyria
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:208444	"" []	3185783	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Bilateral frontal polymicrogyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:208444	"" []	4393256	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Bilateral frontal polymicrogyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:208444	"" []	4393257	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Bilateral frontal polymicrogyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208444	"" []	6148933	\N	\N	EFO	8	EFO	genetic disorder	Bilateral frontal polymicrogyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:208444	"" []	5411753	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Bilateral frontal polymicrogyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:208444	"" []	5411754	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Bilateral frontal polymicrogyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208444	"" []	6470143	\N	\N	EFO	9	EFO	disease	Bilateral frontal polymicrogyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208444	"" []	6148932	\N	\N	EFO	8	EFO	genetic disorder	Bilateral frontal polymicrogyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:208444	"" []	6848379	\N	\N	EFO	10	EFO	disposition	Bilateral frontal polymicrogyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:208444	"" []	7068409	\N	\N	EFO	11	EFO	material property	Bilateral frontal polymicrogyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:208444	"" []	7197158	\N	\N	EFO	12	EFO	experimental factor	Bilateral frontal polymicrogyria
Orphanet:208447	\N	\N	"" []	Orphanet:208447	"" []	74449	\N	\N	EFO	0	EFO	Bilateral generalized polymicrogyria	Bilateral generalized polymicrogyria
Orphanet:268940	Orphanet:208447	\N	"" []	Orphanet:208447	"" []	216391	\N	\N	EFO	1	EFO	Bilateral polymicrogyria	Bilateral generalized polymicrogyria
Orphanet:35981	Orphanet:268940	\N	"" []	Orphanet:208447	"" []	570799	\N	\N	EFO	2	EFO	Polymicrogyria	Bilateral generalized polymicrogyria
Orphanet:163209	Orphanet:35981	\N	"" []	Orphanet:208447	"" []	1152840	\N	\N	EFO	3	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Bilateral generalized polymicrogyria
Orphanet:183763	Orphanet:35981	\N	"" []	Orphanet:208447	"" []	1152841	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Bilateral generalized polymicrogyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:208447	"" []	2035340	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Bilateral generalized polymicrogyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:208447	"" []	2035341	\N	\N	EFO	4	EFO	Genetic cerebral malformation	Bilateral generalized polymicrogyria
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:208447	"" []	2035342	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Bilateral generalized polymicrogyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:208447	"" []	3185784	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Bilateral generalized polymicrogyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:208447	"" []	3185785	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Bilateral generalized polymicrogyria
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:208447	"" []	3185786	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Bilateral generalized polymicrogyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:208447	"" []	4393259	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Bilateral generalized polymicrogyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:208447	"" []	4393260	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Bilateral generalized polymicrogyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208447	"" []	6148936	\N	\N	EFO	8	EFO	genetic disorder	Bilateral generalized polymicrogyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:208447	"" []	5411757	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Bilateral generalized polymicrogyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:208447	"" []	5411758	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Bilateral generalized polymicrogyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208447	"" []	6470144	\N	\N	EFO	9	EFO	disease	Bilateral generalized polymicrogyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208447	"" []	6148935	\N	\N	EFO	8	EFO	genetic disorder	Bilateral generalized polymicrogyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:208447	"" []	6848380	\N	\N	EFO	10	EFO	disposition	Bilateral generalized polymicrogyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:208447	"" []	7068410	\N	\N	EFO	11	EFO	material property	Bilateral generalized polymicrogyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:208447	"" []	7197159	\N	\N	EFO	12	EFO	experimental factor	Bilateral generalized polymicrogyria
Orphanet:2085	\N	\N	"" []	Orphanet:2085	"" []	74450	\N	\N	EFO	0	EFO	Glaucoma - sleep apnea	Glaucoma - sleep apnea
Orphanet:108987	Orphanet:2085	\N	"" []	Orphanet:2085	"" []	216392	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Glaucoma - sleep apnea
Orphanet:98638	Orphanet:2085	\N	"" []	Orphanet:2085	"" []	216393	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Glaucoma - sleep apnea
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2085	"" []	570800	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Glaucoma - sleep apnea
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:2085	"" []	570801	\N	\N	EFO	2	EFO	Rare genetic eye disease	Glaucoma - sleep apnea
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2085	"" []	1152842	\N	\N	EFO	3	EFO	Rare genetic eye disease	Glaucoma - sleep apnea
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2085	"" []	1152843	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Glaucoma - sleep apnea
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2085	"" []	2035343	\N	\N	EFO	4	EFO	genetic disorder	Glaucoma - sleep apnea
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2085	"" []	2035344	\N	\N	EFO	4	EFO	eye disease	Glaucoma - sleep apnea
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2085	"" []	2035345	\N	\N	EFO	4	EFO	genetic disorder	Glaucoma - sleep apnea
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2085	"" []	3000193	\N	\N	EFO	5	EFO	disease	Glaucoma - sleep apnea
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2085	"" []	3000194	\N	\N	EFO	5	EFO	disease	Glaucoma - sleep apnea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2085	"" []	4133489	\N	\N	EFO	6	EFO	disposition	Glaucoma - sleep apnea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2085	"" []	5181913	\N	\N	EFO	7	EFO	material property	Glaucoma - sleep apnea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2085	"" []	5997297	\N	\N	EFO	8	EFO	experimental factor	Glaucoma - sleep apnea
Orphanet:208508	\N	\N	"" []	Orphanet:208508	"" []	74451	\N	\N	EFO	0	EFO	Autosomal dominant cerebellar ataxia type 2	Autosomal dominant cerebellar ataxia type 2
Orphanet:99	Orphanet:208508	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:208508	"" []	216394	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia	Autosomal dominant cerebellar ataxia type 2
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:208508	"" []	570802	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal dominant cerebellar ataxia type 2
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:208508	"" []	570803	\N	\N	EFO	2	EFO	Late-onset ataxia with dementia	Autosomal dominant cerebellar ataxia type 2
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:208508	"" []	570804	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal dominant cerebellar ataxia type 2
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:208508	"" []	1152846	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia type 2
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:208508	"" []	1152847	\N	\N	EFO	3	EFO	Ataxia with dementia	Autosomal dominant cerebellar ataxia type 2
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:208508	"" []	1152848	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Autosomal dominant cerebellar ataxia type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208508	"" []	5411763	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant cerebellar ataxia type 2
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:208508	"" []	2035349	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Autosomal dominant cerebellar ataxia type 2
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:208508	"" []	2035350	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Autosomal dominant cerebellar ataxia type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208508	"" []	5817543	\N	\N	EFO	8	EFO	disease	Autosomal dominant cerebellar ataxia type 2
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:208508	"" []	3185789	\N	\N	EFO	5	EFO	Genetic dementia	Autosomal dominant cerebellar ataxia type 2
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:208508	"" []	3185790	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Autosomal dominant cerebellar ataxia type 2
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:208508	"" []	3185791	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal dominant cerebellar ataxia type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:208508	"" []	6409923	\N	\N	EFO	9	EFO	disposition	Autosomal dominant cerebellar ataxia type 2
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:208508	"" []	4393264	\N	\N	EFO	6	EFO	brain disease	Autosomal dominant cerebellar ataxia type 2
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:208508	"" []	4393265	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia type 2
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:208508	"" []	4393266	\N	\N	EFO	6	EFO	neurodegenerative disease	Autosomal dominant cerebellar ataxia type 2
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:208508	"" []	4393267	\N	\N	EFO	6	EFO	brain disease	Autosomal dominant cerebellar ataxia type 2
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:208508	"" []	4393268	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208508	"" []	4393269	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant cerebellar ataxia type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:208508	"" []	4393270	\N	\N	EFO	6	EFO	eye disease	Autosomal dominant cerebellar ataxia type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:208508	"" []	6807767	\N	\N	EFO	10	EFO	material property	Autosomal dominant cerebellar ataxia type 2
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:208508	"" []	5411762	\N	\N	EFO	7	EFO	nervous system disease	Autosomal dominant cerebellar ataxia type 2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:208508	"" []	5411764	\N	\N	EFO	7	EFO	nervous system disease	Autosomal dominant cerebellar ataxia type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208508	"" []	5411766	\N	\N	EFO	7	EFO	disease	Autosomal dominant cerebellar ataxia type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:208508	"" []	7048587	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant cerebellar ataxia type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208508	"" []	6148939	\N	\N	EFO	8	EFO	disease	Autosomal dominant cerebellar ataxia type 2
Orphanet:208513	\N	\N	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	74452	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 29	Spinocerebellar ataxia type 29
Orphanet:94145	Orphanet:208513	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	216395	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 29
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	570805	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 29
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	1152849	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 29
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	1152850	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 29
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	1152851	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 29
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	2035351	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 29
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	2035352	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 29
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	2035353	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 29
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	6148942	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 29
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	3185793	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 29
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	3185794	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 29
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	6409924	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 29
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	4393272	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 29
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	4393273	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 29
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	4393274	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 29
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	6807768	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 29
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	5411768	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 29
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	5411769	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 29
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	5411770	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 29
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	5411771	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 29
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	5411772	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 29
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	5411773	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 29
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	5411774	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 29
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	7048588	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 29
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	6148941	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 29
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	6148943	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 29
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	6148945	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 29
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	7190197	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 29
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208513	"Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." []	6632444	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 29
Orphanet:208593	\N	\N	"" []	Orphanet:208593	"" []	74453	\N	\N	EFO	0	EFO	Genetic hypoparathyroidism	Genetic hypoparathyroidism
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:208593	"" []	216396	\N	\N	EFO	1	EFO	parathyroid disease	Genetic hypoparathyroidism
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:208593	"" []	216397	\N	\N	EFO	1	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Genetic hypoparathyroidism
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:208593	"" []	570806	\N	\N	EFO	2	EFO	calcium metabolic disease	Genetic hypoparathyroidism
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:208593	"" []	570807	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Genetic hypoparathyroidism
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:208593	"" []	1152852	\N	\N	EFO	3	EFO	metabolic disease	Genetic hypoparathyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208593	"" []	1152853	\N	\N	EFO	3	EFO	genetic disorder	Genetic hypoparathyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:208593	"" []	1152854	\N	\N	EFO	3	EFO	endocrine system disease	Genetic hypoparathyroidism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208593	"" []	2035354	\N	\N	EFO	4	EFO	disease	Genetic hypoparathyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208593	"" []	2035355	\N	\N	EFO	4	EFO	disease	Genetic hypoparathyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208593	"" []	2035356	\N	\N	EFO	4	EFO	disease	Genetic hypoparathyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:208593	"" []	3185795	\N	\N	EFO	5	EFO	disposition	Genetic hypoparathyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:208593	"" []	4393275	\N	\N	EFO	6	EFO	material property	Genetic hypoparathyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:208593	"" []	5411775	\N	\N	EFO	7	EFO	experimental factor	Genetic hypoparathyroidism
Orphanet:208596	\N	\N	"" []	Orphanet:208596	"" []	74454	\N	\N	EFO	0	EFO	Genetic hyperparathyroidism	Genetic hyperparathyroidism
EFO:0005754	Orphanet:208596	\N	"a disease that occurs in the parathyroid" []	Orphanet:208596	"" []	216398	\N	\N	EFO	1	EFO	parathyroid disease	Genetic hyperparathyroidism
Orphanet:183634	Orphanet:208596	\N	"" []	Orphanet:208596	"" []	216399	\N	\N	EFO	1	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Genetic hyperparathyroidism
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:208596	"" []	570808	\N	\N	EFO	2	EFO	calcium metabolic disease	Genetic hyperparathyroidism
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:208596	"" []	570809	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Genetic hyperparathyroidism
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:208596	"" []	1152855	\N	\N	EFO	3	EFO	metabolic disease	Genetic hyperparathyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208596	"" []	1152856	\N	\N	EFO	3	EFO	genetic disorder	Genetic hyperparathyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:208596	"" []	1152857	\N	\N	EFO	3	EFO	endocrine system disease	Genetic hyperparathyroidism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208596	"" []	2035357	\N	\N	EFO	4	EFO	disease	Genetic hyperparathyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208596	"" []	2035358	\N	\N	EFO	4	EFO	disease	Genetic hyperparathyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208596	"" []	2035359	\N	\N	EFO	4	EFO	disease	Genetic hyperparathyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:208596	"" []	3185796	\N	\N	EFO	5	EFO	disposition	Genetic hyperparathyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:208596	"" []	4393276	\N	\N	EFO	6	EFO	material property	Genetic hyperparathyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:208596	"" []	5411776	\N	\N	EFO	7	EFO	experimental factor	Genetic hyperparathyroidism
Orphanet:208650	\N	\N	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	74455	\N	\N	EFO	0	EFO	Cryopyrin-associated periodic syndrome	Cryopyrin-associated periodic syndrome
Orphanet:290839	Orphanet:208650	\N	"" []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	216400	\N	\N	EFO	1	EFO	Autoinflammatory syndrome with immune deficiency	Cryopyrin-associated periodic syndrome
Orphanet:324924	Orphanet:208650	\N	"" []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	216401	\N	\N	EFO	1	EFO	Hereditary periodic fever syndrome	Cryopyrin-associated periodic syndrome
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	570810	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Cryopyrin-associated periodic syndrome
Orphanet:271870	Orphanet:324924	\N	"" []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	570811	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Cryopyrin-associated periodic syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	1152858	\N	\N	EFO	3	EFO	Primary immunodeficiency	Cryopyrin-associated periodic syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	1152859	\N	\N	EFO	3	EFO	genetic disorder	Cryopyrin-associated periodic syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	2035360	\N	\N	EFO	4	EFO	Rare genetic immune disease	Cryopyrin-associated periodic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	4393277	\N	\N	EFO	6	EFO	disease	Cryopyrin-associated periodic syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	3185797	\N	\N	EFO	5	EFO	genetic disorder	Cryopyrin-associated periodic syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	3185798	\N	\N	EFO	5	EFO	immune system disease	Cryopyrin-associated periodic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	5059734	\N	\N	EFO	7	EFO	disposition	Cryopyrin-associated periodic syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	4393278	\N	\N	EFO	6	EFO	disease	Cryopyrin-associated periodic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	5876940	\N	\N	EFO	8	EFO	material property	Cryopyrin-associated periodic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:208650	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	6470147	\N	\N	EFO	9	EFO	experimental factor	Cryopyrin-associated periodic syndrome
Orphanet:2087	\N	\N	"" []	Orphanet:2087	"" []	74456	\N	\N	EFO	0	EFO	Glomerulonephritis - sparse hair - telangiectasis	Glomerulonephritis - sparse hair - telangiectasis
Orphanet:102373	Orphanet:2087	\N	"" []	Orphanet:2087	"" []	216402	\N	\N	EFO	1	EFO	Primary glomerular disease	Glomerulonephritis - sparse hair - telangiectasis
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:2087	"" []	570812	\N	\N	EFO	2	EFO	Genetic glomerular disease	Glomerulonephritis - sparse hair - telangiectasis
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:2087	"" []	1152860	\N	\N	EFO	3	EFO	Rare genetic renal disease	Glomerulonephritis - sparse hair - telangiectasis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2087	"" []	2035362	\N	\N	EFO	4	EFO	genetic disorder	Glomerulonephritis - sparse hair - telangiectasis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2087	"" []	3185800	\N	\N	EFO	5	EFO	disease	Glomerulonephritis - sparse hair - telangiectasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2087	"" []	4393280	\N	\N	EFO	6	EFO	disposition	Glomerulonephritis - sparse hair - telangiectasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2087	"" []	5411778	\N	\N	EFO	7	EFO	material property	Glomerulonephritis - sparse hair - telangiectasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2087	"" []	6148946	\N	\N	EFO	8	EFO	experimental factor	Glomerulonephritis - sparse hair - telangiectasis
Orphanet:2088	\N	\N	"" []	Orphanet:2088	"" []	74457	\N	\N	EFO	0	EFO	Glycogen storage disease due to GLUT2 deficiency	Glycogen storage disease due to GLUT2 deficiency
Orphanet:101940	Orphanet:2088	\N	"" []	Orphanet:2088	"" []	216403	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Glycogen storage disease due to GLUT2 deficiency
Orphanet:79178	Orphanet:2088	\N	"" []	Orphanet:2088	"" []	216404	\N	\N	EFO	1	EFO	Glucose transport disorder	Glycogen storage disease due to GLUT2 deficiency
Orphanet:79201	Orphanet:2088	\N	"" []	Orphanet:2088	"" []	216405	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to GLUT2 deficiency
Orphanet:93593	Orphanet:2088	\N	"" []	Orphanet:2088	"" []	216406	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Glycogen storage disease due to GLUT2 deficiency
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:2088	"" []	570813	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Glycogen storage disease due to GLUT2 deficiency
Orphanet:309001	Orphanet:79178	\N	"" []	Orphanet:2088	"" []	570814	\N	\N	EFO	2	EFO	Disorder of carbohydrate absorption and transport	Glycogen storage disease due to GLUT2 deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:2088	"" []	570815	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to GLUT2 deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:2088	"" []	570816	\N	\N	EFO	2	EFO	Rare genetic renal disease	Glycogen storage disease due to GLUT2 deficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2088	"" []	1152861	\N	\N	EFO	3	EFO	digestive system disease	Glycogen storage disease due to GLUT2 deficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2088	"" []	1152862	\N	\N	EFO	3	EFO	genetic disorder	Glycogen storage disease due to GLUT2 deficiency
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:2088	"" []	1152863	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to GLUT2 deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:2088	"" []	2035365	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to GLUT2 deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2088	"" []	1152865	\N	\N	EFO	3	EFO	genetic disorder	Glycogen storage disease due to GLUT2 deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2088	"" []	2035363	\N	\N	EFO	4	EFO	disease	Glycogen storage disease due to GLUT2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2088	"" []	4133491	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to GLUT2 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2088	"" []	3000195	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to GLUT2 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2088	"" []	3000196	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to GLUT2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2088	"" []	5059735	\N	\N	EFO	7	EFO	disposition	Glycogen storage disease due to GLUT2 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2088	"" []	4133492	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to GLUT2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2088	"" []	5876941	\N	\N	EFO	8	EFO	material property	Glycogen storage disease due to GLUT2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2088	"" []	6470148	\N	\N	EFO	9	EFO	experimental factor	Glycogen storage disease due to GLUT2 deficiency
Orphanet:2089	\N	\N	"" []	Orphanet:2089	"" []	74458	\N	\N	EFO	0	EFO	Glycogen storage disease due to hepatic glycogen synthase deficiency	Glycogen storage disease due to hepatic glycogen synthase deficiency
Orphanet:308520	Orphanet:2089	\N	"" []	Orphanet:2089	"" []	216407	\N	\N	EFO	1	EFO	Glycogen storage disease due to glycogen synthase deficiency	Glycogen storage disease due to hepatic glycogen synthase deficiency
Orphanet:79201	Orphanet:308520	\N	"" []	Orphanet:2089	"" []	570817	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to hepatic glycogen synthase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:2089	"" []	1152866	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to hepatic glycogen synthase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:2089	"" []	2035368	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to hepatic glycogen synthase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2089	"" []	3185804	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to hepatic glycogen synthase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2089	"" []	3185805	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to hepatic glycogen synthase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2089	"" []	4393282	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to hepatic glycogen synthase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2089	"" []	4393283	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to hepatic glycogen synthase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2089	"" []	5411780	\N	\N	EFO	7	EFO	disposition	Glycogen storage disease due to hepatic glycogen synthase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2089	"" []	6148947	\N	\N	EFO	8	EFO	material property	Glycogen storage disease due to hepatic glycogen synthase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2089	"" []	6632445	\N	\N	EFO	9	EFO	experimental factor	Glycogen storage disease due to hepatic glycogen synthase deficiency
Orphanet:209	\N	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	74459	\N	\N	EFO	0	EFO	Cutis laxa	Cutis laxa
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	216408	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Cutis laxa
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	216409	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Cutis laxa
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	216410	\N	\N	EFO	1	EFO	Genetic dermis elastic tissue disorder	Cutis laxa
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	216411	\N	\N	EFO	1	EFO	Congenital entropion	Cutis laxa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	570818	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Cutis laxa
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	570819	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Cutis laxa
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	570820	\N	\N	EFO	2	EFO	Genetic dermis disorder	Cutis laxa
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	570821	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Cutis laxa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	1152867	\N	\N	EFO	3	EFO	genetic disorder	Cutis laxa
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	1152868	\N	\N	EFO	3	EFO	Rare genetic skin disease	Cutis laxa
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	1152869	\N	\N	EFO	3	EFO	Rare palpebral disease	Cutis laxa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	5411782	\N	\N	EFO	7	EFO	disease	Cutis laxa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	2035370	\N	\N	EFO	4	EFO	genetic disorder	Cutis laxa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	2035371	\N	\N	EFO	4	EFO	skin disease	Cutis laxa
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	2035372	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Cutis laxa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	5817544	\N	\N	EFO	8	EFO	disposition	Cutis laxa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	3185808	\N	\N	EFO	5	EFO	disease	Cutis laxa
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	3185809	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cutis laxa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	6409925	\N	\N	EFO	9	EFO	material property	Cutis laxa
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	4393285	\N	\N	EFO	6	EFO	genetic disorder	Cutis laxa
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	4393286	\N	\N	EFO	6	EFO	eye disease	Cutis laxa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	6807769	\N	\N	EFO	10	EFO	experimental factor	Cutis laxa
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	5411783	\N	\N	EFO	7	EFO	disease	Cutis laxa
Orphanet:2090	\N	\N	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	74460	\N	\N	EFO	0	EFO	GMS syndrome	GMS syndrome
Orphanet:108987	Orphanet:2090	\N	"" []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	216412	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	GMS syndrome
Orphanet:183763	Orphanet:2090	\N	"" []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	216413	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	GMS syndrome
Orphanet:98633	Orphanet:2090	\N	"" []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	216414	\N	\N	EFO	1	EFO	Goniodysgenesis	GMS syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	570822	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	GMS syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	570823	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	GMS syndrome
Orphanet:98632	Orphanet:98633	\N	"" []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	570824	\N	\N	EFO	2	EFO	Glaucoma associated with neural crest cell migration anomaly	GMS syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	5411785	\N	\N	EFO	7	EFO	Rare genetic eye disease	GMS syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	5411786	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	GMS syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	1152872	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	GMS syndrome
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	1152873	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	GMS syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	5801844	\N	\N	EFO	8	EFO	genetic disorder	GMS syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	5801845	\N	\N	EFO	8	EFO	eye disease	GMS syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	5801846	\N	\N	EFO	8	EFO	genetic disorder	GMS syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	2035376	\N	\N	EFO	4	EFO	genetic disorder	GMS syndrome
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	2035377	\N	\N	EFO	4	EFO	Hereditary glaucoma	GMS syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	6378832	\N	\N	EFO	9	EFO	disease	GMS syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	6378833	\N	\N	EFO	9	EFO	disease	GMS syndrome
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	3185812	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	GMS syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	6778631	\N	\N	EFO	10	EFO	disposition	GMS syndrome
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	4393288	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	GMS syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	7029845	\N	\N	EFO	11	EFO	material property	GMS syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2090	"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no new cases reported since 1992." []	7181755	\N	\N	EFO	12	EFO	experimental factor	GMS syndrome
Orphanet:209024	\N	\N	"" []	Orphanet:209024	"" []	74461	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
Orphanet:207113	Orphanet:209024	\N	"" []	Orphanet:209024	"" []	216415	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:209024	"" []	570825	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:209024	"" []	1152874	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209024	"" []	2035378	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209024	"" []	3185813	\N	\N	EFO	5	EFO	muscular disease	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209024	"" []	3185814	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209024	"" []	4393289	\N	\N	EFO	6	EFO	skeletal system disease	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209024	"" []	4393290	\N	\N	EFO	6	EFO	genetic disorder	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209024	"" []	5411787	\N	\N	EFO	7	EFO	disease	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209024	"" []	5411788	\N	\N	EFO	7	EFO	disease	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209024	"" []	6148949	\N	\N	EFO	8	EFO	disposition	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209024	"" []	6632446	\N	\N	EFO	9	EFO	material property	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209024	"" []	6925523	\N	\N	EFO	10	EFO	experimental factor	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
Orphanet:209027	\N	\N	"" []	Orphanet:209027	"" []	74462	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of protein glycosyltransferase-like	Qualitative or quantitative defects of protein glycosyltransferase-like
Orphanet:207113	Orphanet:209027	\N	"" []	Orphanet:209027	"" []	216416	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Qualitative or quantitative defects of protein glycosyltransferase-like
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:209027	"" []	570826	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Qualitative or quantitative defects of protein glycosyltransferase-like
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:209027	"" []	1152875	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of protein glycosyltransferase-like
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209027	"" []	2035379	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of protein glycosyltransferase-like
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209027	"" []	3185815	\N	\N	EFO	5	EFO	muscular disease	Qualitative or quantitative defects of protein glycosyltransferase-like
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209027	"" []	3185816	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of protein glycosyltransferase-like
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209027	"" []	4393291	\N	\N	EFO	6	EFO	skeletal system disease	Qualitative or quantitative defects of protein glycosyltransferase-like
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209027	"" []	4393292	\N	\N	EFO	6	EFO	genetic disorder	Qualitative or quantitative defects of protein glycosyltransferase-like
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209027	"" []	5411789	\N	\N	EFO	7	EFO	disease	Qualitative or quantitative defects of protein glycosyltransferase-like
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209027	"" []	5411790	\N	\N	EFO	7	EFO	disease	Qualitative or quantitative defects of protein glycosyltransferase-like
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209027	"" []	6148950	\N	\N	EFO	8	EFO	disposition	Qualitative or quantitative defects of protein glycosyltransferase-like
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209027	"" []	6632447	\N	\N	EFO	9	EFO	material property	Qualitative or quantitative defects of protein glycosyltransferase-like
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209027	"" []	6925524	\N	\N	EFO	10	EFO	experimental factor	Qualitative or quantitative defects of protein glycosyltransferase-like
Orphanet:209030	\N	\N	"" []	Orphanet:209030	"" []	74463	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of protein O-mannosyltransferase 1	Qualitative or quantitative defects of protein O-mannosyltransferase 1
Orphanet:207113	Orphanet:209030	\N	"" []	Orphanet:209030	"" []	216417	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Qualitative or quantitative defects of protein O-mannosyltransferase 1
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:209030	"" []	570827	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Qualitative or quantitative defects of protein O-mannosyltransferase 1
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:209030	"" []	1152876	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of protein O-mannosyltransferase 1
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209030	"" []	2035380	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of protein O-mannosyltransferase 1
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209030	"" []	3185817	\N	\N	EFO	5	EFO	muscular disease	Qualitative or quantitative defects of protein O-mannosyltransferase 1
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209030	"" []	3185818	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of protein O-mannosyltransferase 1
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209030	"" []	4393293	\N	\N	EFO	6	EFO	skeletal system disease	Qualitative or quantitative defects of protein O-mannosyltransferase 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209030	"" []	4393294	\N	\N	EFO	6	EFO	genetic disorder	Qualitative or quantitative defects of protein O-mannosyltransferase 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209030	"" []	5411791	\N	\N	EFO	7	EFO	disease	Qualitative or quantitative defects of protein O-mannosyltransferase 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209030	"" []	5411792	\N	\N	EFO	7	EFO	disease	Qualitative or quantitative defects of protein O-mannosyltransferase 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209030	"" []	6148951	\N	\N	EFO	8	EFO	disposition	Qualitative or quantitative defects of protein O-mannosyltransferase 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209030	"" []	6632448	\N	\N	EFO	9	EFO	material property	Qualitative or quantitative defects of protein O-mannosyltransferase 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209030	"" []	6925525	\N	\N	EFO	10	EFO	experimental factor	Qualitative or quantitative defects of protein O-mannosyltransferase 1
Orphanet:209033	\N	\N	"" []	Orphanet:209033	"" []	74464	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of protein O-mannosyltransferase 2	Qualitative or quantitative defects of protein O-mannosyltransferase 2
Orphanet:207113	Orphanet:209033	\N	"" []	Orphanet:209033	"" []	216418	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Qualitative or quantitative defects of protein O-mannosyltransferase 2
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:209033	"" []	570828	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Qualitative or quantitative defects of protein O-mannosyltransferase 2
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:209033	"" []	1152877	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of protein O-mannosyltransferase 2
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209033	"" []	2035381	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of protein O-mannosyltransferase 2
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209033	"" []	3185819	\N	\N	EFO	5	EFO	muscular disease	Qualitative or quantitative defects of protein O-mannosyltransferase 2
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209033	"" []	3185820	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of protein O-mannosyltransferase 2
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209033	"" []	4393295	\N	\N	EFO	6	EFO	skeletal system disease	Qualitative or quantitative defects of protein O-mannosyltransferase 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209033	"" []	4393296	\N	\N	EFO	6	EFO	genetic disorder	Qualitative or quantitative defects of protein O-mannosyltransferase 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209033	"" []	5411793	\N	\N	EFO	7	EFO	disease	Qualitative or quantitative defects of protein O-mannosyltransferase 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209033	"" []	5411794	\N	\N	EFO	7	EFO	disease	Qualitative or quantitative defects of protein O-mannosyltransferase 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209033	"" []	6148952	\N	\N	EFO	8	EFO	disposition	Qualitative or quantitative defects of protein O-mannosyltransferase 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209033	"" []	6632449	\N	\N	EFO	9	EFO	material property	Qualitative or quantitative defects of protein O-mannosyltransferase 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209033	"" []	6925526	\N	\N	EFO	10	EFO	experimental factor	Qualitative or quantitative defects of protein O-mannosyltransferase 2
Orphanet:209038	\N	\N	"" []	Orphanet:209038	"" []	74465	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of myofibrillar proteins	Qualitative or quantitative defects of myofibrillar proteins
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:209038	"" []	216419	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of myofibrillar proteins
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209038	"" []	570829	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of myofibrillar proteins
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209038	"" []	1152878	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of myofibrillar proteins
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209038	"" []	1152879	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of myofibrillar proteins
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209038	"" []	2035382	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of myofibrillar proteins
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209038	"" []	2035383	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of myofibrillar proteins
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209038	"" []	3185821	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of myofibrillar proteins
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209038	"" []	3185822	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of myofibrillar proteins
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209038	"" []	4393297	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of myofibrillar proteins
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209038	"" []	5411795	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of myofibrillar proteins
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209038	"" []	6148953	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of myofibrillar proteins
Orphanet:209041	\N	\N	"" []	Orphanet:209041	"" []	74466	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of desmin	Qualitative or quantitative defects of desmin
Orphanet:209038	Orphanet:209041	\N	"" []	Orphanet:209041	"" []	216420	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of myofibrillar proteins	Qualitative or quantitative defects of desmin
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:209041	"" []	570830	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of desmin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209041	"" []	1152880	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of desmin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209041	"" []	2035384	\N	\N	EFO	4	EFO	muscular disease	Qualitative or quantitative defects of desmin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209041	"" []	2035385	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of desmin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209041	"" []	3185823	\N	\N	EFO	5	EFO	skeletal system disease	Qualitative or quantitative defects of desmin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209041	"" []	3185824	\N	\N	EFO	5	EFO	genetic disorder	Qualitative or quantitative defects of desmin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209041	"" []	4393298	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of desmin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209041	"" []	4393299	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of desmin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209041	"" []	5411796	\N	\N	EFO	7	EFO	disposition	Qualitative or quantitative defects of desmin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209041	"" []	6148954	\N	\N	EFO	8	EFO	material property	Qualitative or quantitative defects of desmin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209041	"" []	6632450	\N	\N	EFO	9	EFO	experimental factor	Qualitative or quantitative defects of desmin
Orphanet:209044	\N	\N	"" []	Orphanet:209044	"" []	74467	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of alphaB-cristallin	Qualitative or quantitative defects of alphaB-cristallin
Orphanet:209038	Orphanet:209044	\N	"" []	Orphanet:209044	"" []	216421	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of myofibrillar proteins	Qualitative or quantitative defects of alphaB-cristallin
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:209044	"" []	570831	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of alphaB-cristallin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209044	"" []	1152881	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of alphaB-cristallin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209044	"" []	2035386	\N	\N	EFO	4	EFO	muscular disease	Qualitative or quantitative defects of alphaB-cristallin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209044	"" []	2035387	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of alphaB-cristallin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209044	"" []	3185825	\N	\N	EFO	5	EFO	skeletal system disease	Qualitative or quantitative defects of alphaB-cristallin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209044	"" []	3185826	\N	\N	EFO	5	EFO	genetic disorder	Qualitative or quantitative defects of alphaB-cristallin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209044	"" []	4393300	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of alphaB-cristallin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209044	"" []	4393301	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of alphaB-cristallin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209044	"" []	5411797	\N	\N	EFO	7	EFO	disposition	Qualitative or quantitative defects of alphaB-cristallin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209044	"" []	6148955	\N	\N	EFO	8	EFO	material property	Qualitative or quantitative defects of alphaB-cristallin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209044	"" []	6632451	\N	\N	EFO	9	EFO	experimental factor	Qualitative or quantitative defects of alphaB-cristallin
Orphanet:209047	\N	\N	"" []	Orphanet:209047	"" []	74468	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of filamin C	Qualitative or quantitative defects of filamin C
Orphanet:209038	Orphanet:209047	\N	"" []	Orphanet:209047	"" []	216422	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of myofibrillar proteins	Qualitative or quantitative defects of filamin C
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:209047	"" []	570832	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of filamin C
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209047	"" []	1152882	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of filamin C
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209047	"" []	2035388	\N	\N	EFO	4	EFO	muscular disease	Qualitative or quantitative defects of filamin C
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209047	"" []	2035389	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of filamin C
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209047	"" []	3185827	\N	\N	EFO	5	EFO	skeletal system disease	Qualitative or quantitative defects of filamin C
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209047	"" []	3185828	\N	\N	EFO	5	EFO	genetic disorder	Qualitative or quantitative defects of filamin C
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209047	"" []	4393302	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of filamin C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209047	"" []	4393303	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of filamin C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209047	"" []	5411798	\N	\N	EFO	7	EFO	disposition	Qualitative or quantitative defects of filamin C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209047	"" []	6148956	\N	\N	EFO	8	EFO	material property	Qualitative or quantitative defects of filamin C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209047	"" []	6632452	\N	\N	EFO	9	EFO	experimental factor	Qualitative or quantitative defects of filamin C
Orphanet:209050	\N	\N	"" []	Orphanet:209050	"" []	74469	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of protein ZASP	Qualitative or quantitative defects of protein ZASP
Orphanet:209038	Orphanet:209050	\N	"" []	Orphanet:209050	"" []	216423	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of myofibrillar proteins	Qualitative or quantitative defects of protein ZASP
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:209050	"" []	570833	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of protein ZASP
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209050	"" []	1152883	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of protein ZASP
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209050	"" []	2035390	\N	\N	EFO	4	EFO	muscular disease	Qualitative or quantitative defects of protein ZASP
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209050	"" []	2035391	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of protein ZASP
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209050	"" []	3185829	\N	\N	EFO	5	EFO	skeletal system disease	Qualitative or quantitative defects of protein ZASP
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209050	"" []	3185830	\N	\N	EFO	5	EFO	genetic disorder	Qualitative or quantitative defects of protein ZASP
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209050	"" []	4393304	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of protein ZASP
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209050	"" []	4393305	\N	\N	EFO	6	EFO	disease	Qualitative or quantitative defects of protein ZASP
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209050	"" []	5411799	\N	\N	EFO	7	EFO	disposition	Qualitative or quantitative defects of protein ZASP
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209050	"" []	6148957	\N	\N	EFO	8	EFO	material property	Qualitative or quantitative defects of protein ZASP
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209050	"" []	6632453	\N	\N	EFO	9	EFO	experimental factor	Qualitative or quantitative defects of protein ZASP
Orphanet:209053	\N	\N	"" []	Orphanet:209053	"" []	74470	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of titin	Qualitative or quantitative defects of titin
Orphanet:207049	Orphanet:209053	\N	"" []	Orphanet:209053	"" []	216424	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of titin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209053	"" []	570834	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of titin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209053	"" []	1152884	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of titin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209053	"" []	1152885	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of titin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209053	"" []	2035392	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of titin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209053	"" []	2035393	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of titin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209053	"" []	3185831	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of titin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209053	"" []	3185832	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of titin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209053	"" []	4393306	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of titin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209053	"" []	5411800	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of titin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209053	"" []	6148958	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of titin
Orphanet:209056	\N	\N	"" []	Orphanet:209056	"" []	74471	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of telethonin	Qualitative or quantitative defects of telethonin
Orphanet:207049	Orphanet:209056	\N	"" []	Orphanet:209056	"" []	216425	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of telethonin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209056	"" []	570835	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of telethonin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209056	"" []	1152886	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of telethonin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209056	"" []	1152887	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of telethonin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209056	"" []	2035394	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of telethonin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209056	"" []	2035395	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of telethonin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209056	"" []	3185833	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of telethonin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209056	"" []	3185834	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of telethonin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209056	"" []	4393307	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of telethonin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209056	"" []	5411801	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of telethonin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209056	"" []	6148959	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of telethonin
Orphanet:209059	\N	\N	"" []	Orphanet:209059	"" []	74472	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of alpha-actin	Qualitative or quantitative defects of alpha-actin
Orphanet:207049	Orphanet:209059	\N	"" []	Orphanet:209059	"" []	216426	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of alpha-actin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209059	"" []	570836	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of alpha-actin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209059	"" []	1152888	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of alpha-actin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209059	"" []	1152889	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of alpha-actin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209059	"" []	2035396	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of alpha-actin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209059	"" []	2035397	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of alpha-actin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209059	"" []	3185835	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of alpha-actin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209059	"" []	3185836	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of alpha-actin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209059	"" []	4393308	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of alpha-actin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209059	"" []	5411802	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of alpha-actin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209059	"" []	6148960	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of alpha-actin
Orphanet:2091	\N	\N	"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." []	Orphanet:2091	"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." []	74473	\N	\N	EFO	0	EFO	Multinodular goiter - cystic kidney - polydactyly	Multinodular goiter - cystic kidney - polydactyly
Orphanet:330206	Orphanet:2091	\N	"" []	Orphanet:2091	"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." []	216427	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Multinodular goiter - cystic kidney - polydactyly
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2091	"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." []	570837	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Multinodular goiter - cystic kidney - polydactyly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2091	"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." []	1152890	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Multinodular goiter - cystic kidney - polydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2091	"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." []	2035398	\N	\N	EFO	4	EFO	genetic disorder	Multinodular goiter - cystic kidney - polydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2091	"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." []	3185837	\N	\N	EFO	5	EFO	disease	Multinodular goiter - cystic kidney - polydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2091	"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." []	4393309	\N	\N	EFO	6	EFO	disposition	Multinodular goiter - cystic kidney - polydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2091	"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." []	5411803	\N	\N	EFO	7	EFO	material property	Multinodular goiter - cystic kidney - polydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2091	"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." []	6148961	\N	\N	EFO	8	EFO	experimental factor	Multinodular goiter - cystic kidney - polydactyly
Orphanet:209182	\N	\N	"" []	Orphanet:209182	"" []	74474	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of nebulin	Qualitative or quantitative defects of nebulin
Orphanet:207049	Orphanet:209182	\N	"" []	Orphanet:209182	"" []	216428	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of nebulin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209182	"" []	570838	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of nebulin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209182	"" []	1152891	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of nebulin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209182	"" []	1152892	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of nebulin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209182	"" []	2035399	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of nebulin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209182	"" []	2035400	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of nebulin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209182	"" []	3185838	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of nebulin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209182	"" []	3185839	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of nebulin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209182	"" []	4393310	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of nebulin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209182	"" []	5411804	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of nebulin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209182	"" []	6148962	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of nebulin
Orphanet:209185	\N	\N	"" []	Orphanet:209185	"" []	74475	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
Orphanet:207049	Orphanet:209185	\N	"" []	Orphanet:209185	"" []	216429	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209185	"" []	570839	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209185	"" []	1152893	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209185	"" []	1152894	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209185	"" []	2035401	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209185	"" []	2035402	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209185	"" []	3185840	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209185	"" []	3185841	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209185	"" []	4393311	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209185	"" []	5411805	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209185	"" []	6148963	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
Orphanet:209188	\N	\N	"" []	Orphanet:209188	"" []	74476	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of emerin	Qualitative or quantitative defects of emerin
Orphanet:207049	Orphanet:209188	\N	"" []	Orphanet:209188	"" []	216430	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of emerin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209188	"" []	570840	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of emerin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209188	"" []	1152895	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of emerin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209188	"" []	1152896	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of emerin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209188	"" []	2035403	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of emerin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209188	"" []	2035404	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of emerin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209188	"" []	3185842	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of emerin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209188	"" []	3185843	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of emerin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209188	"" []	4393312	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of emerin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209188	"" []	5411806	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of emerin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209188	"" []	6148964	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of emerin
Orphanet:209193	\N	\N	"" []	Orphanet:209193	"" []	74477	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of selenoprotein N1	Qualitative or quantitative defects of selenoprotein N1
Orphanet:207049	Orphanet:209193	\N	"" []	Orphanet:209193	"" []	216431	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of selenoprotein N1
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209193	"" []	570841	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of selenoprotein N1
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209193	"" []	1152897	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of selenoprotein N1
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209193	"" []	1152898	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of selenoprotein N1
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209193	"" []	2035405	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of selenoprotein N1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209193	"" []	2035406	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of selenoprotein N1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209193	"" []	3185844	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of selenoprotein N1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209193	"" []	3185845	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of selenoprotein N1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209193	"" []	4393313	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of selenoprotein N1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209193	"" []	5411807	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of selenoprotein N1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209193	"" []	6148965	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of selenoprotein N1
Orphanet:209196	\N	\N	"" []	Orphanet:209196	"" []	74478	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of plectin	Qualitative or quantitative defects of plectin
Orphanet:207049	Orphanet:209196	\N	"" []	Orphanet:209196	"" []	216432	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of plectin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209196	"" []	570842	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of plectin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209196	"" []	1152899	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of plectin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209196	"" []	1152900	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of plectin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209196	"" []	2035407	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of plectin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209196	"" []	2035408	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of plectin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209196	"" []	3185846	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of plectin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209196	"" []	3185847	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of plectin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209196	"" []	4393314	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of plectin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209196	"" []	5411808	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of plectin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209196	"" []	6148966	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of plectin
Orphanet:209199	\N	\N	"" []	Orphanet:209199	"" []	74479	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of protein SERCA1	Qualitative or quantitative defects of protein SERCA1
Orphanet:207049	Orphanet:209199	\N	"" []	Orphanet:209199	"" []	216433	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of protein SERCA1
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209199	"" []	570843	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of protein SERCA1
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209199	"" []	1152901	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of protein SERCA1
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209199	"" []	1152902	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of protein SERCA1
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209199	"" []	2035409	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of protein SERCA1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209199	"" []	2035410	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of protein SERCA1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209199	"" []	3185848	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of protein SERCA1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209199	"" []	3185849	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of protein SERCA1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209199	"" []	4393315	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of protein SERCA1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209199	"" []	5411809	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of protein SERCA1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209199	"" []	6148967	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of protein SERCA1
Orphanet:2092	\N	\N	"" []	Orphanet:2092	"" []	74480	\N	\N	EFO	0	EFO	Focal dermal hypoplasia	Focal dermal hypoplasia
Orphanet:108987	Orphanet:2092	\N	"" []	Orphanet:2092	"" []	216434	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Focal dermal hypoplasia
Orphanet:183481	Orphanet:2092	\N	"" []	Orphanet:2092	"" []	216435	\N	\N	EFO	1	EFO	Genetic mixed dermis disorder	Focal dermal hypoplasia
Orphanet:330197	Orphanet:2092	\N	"" []	Orphanet:2092	"" []	216436	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Focal dermal hypoplasia
Orphanet:79373	Orphanet:2092	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2092	"" []	216437	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Focal dermal hypoplasia
Orphanet:98196	Orphanet:2092	\N	"" []	Orphanet:2092	"" []	216438	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Focal dermal hypoplasia
Orphanet:98464	Orphanet:2092	\N	"" []	Orphanet:2092	"" []	216439	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Focal dermal hypoplasia
Orphanet:98655	Orphanet:2092	\N	"" []	Orphanet:2092	"" []	216440	\N	\N	EFO	1	EFO	Lens shape anomaly	Focal dermal hypoplasia
Orphanet:98702	Orphanet:2092	\N	"" []	Orphanet:2092	"" []	216441	\N	\N	EFO	1	EFO	Connective tissue disease with eye involvement	Focal dermal hypoplasia
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2092	"" []	570844	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Focal dermal hypoplasia
Orphanet:183472	Orphanet:183481	\N	"" []	Orphanet:2092	"" []	570845	\N	\N	EFO	2	EFO	Genetic dermis disorder	Focal dermal hypoplasia
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2092	"" []	570846	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Focal dermal hypoplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2092	"" []	570847	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Focal dermal hypoplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2092	"" []	570848	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Focal dermal hypoplasia
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:2092	"" []	570849	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Focal dermal hypoplasia
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2092	"" []	570850	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Focal dermal hypoplasia
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:2092	"" []	570851	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Focal dermal hypoplasia
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	Orphanet:2092	"" []	570852	\N	\N	EFO	2	EFO	connective tissue disease	Focal dermal hypoplasia
Orphanet:101435	Orphanet:98702	\N	"" []	Orphanet:2092	"" []	570853	\N	\N	EFO	2	EFO	Rare genetic eye disease	Focal dermal hypoplasia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2092	"" []	1152903	\N	\N	EFO	3	EFO	Rare genetic eye disease	Focal dermal hypoplasia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2092	"" []	1152904	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Focal dermal hypoplasia
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2092	"" []	1152905	\N	\N	EFO	3	EFO	Rare genetic skin disease	Focal dermal hypoplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2092	"" []	1152906	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Focal dermal hypoplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2092	"" []	1152907	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Focal dermal hypoplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2092	"" []	1152908	\N	\N	EFO	3	EFO	Rare genetic skin disease	Focal dermal hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2092	"" []	2035413	\N	\N	EFO	4	EFO	genetic disorder	Focal dermal hypoplasia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2092	"" []	1152910	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Focal dermal hypoplasia
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:2092	"" []	1152911	\N	\N	EFO	3	EFO	Rare genetic eye disease	Focal dermal hypoplasia
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2092	"" []	1152912	\N	\N	EFO	3	EFO	skeletal system disease	Focal dermal hypoplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2092	"" []	2035411	\N	\N	EFO	4	EFO	genetic disorder	Focal dermal hypoplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2092	"" []	2035412	\N	\N	EFO	4	EFO	eye disease	Focal dermal hypoplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2092	"" []	2035414	\N	\N	EFO	4	EFO	genetic disorder	Focal dermal hypoplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2092	"" []	2035415	\N	\N	EFO	4	EFO	skin disease	Focal dermal hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2092	"" []	4393317	\N	\N	EFO	6	EFO	disease	Focal dermal hypoplasia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2092	"" []	2035417	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Focal dermal hypoplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2092	"" []	2035418	\N	\N	EFO	4	EFO	disease	Focal dermal hypoplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2092	"" []	3000198	\N	\N	EFO	5	EFO	disease	Focal dermal hypoplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2092	"" []	3185850	\N	\N	EFO	5	EFO	disease	Focal dermal hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2092	"" []	5059736	\N	\N	EFO	7	EFO	disposition	Focal dermal hypoplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2092	"" []	3185852	\N	\N	EFO	5	EFO	genetic disorder	Focal dermal hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2092	"" []	5876942	\N	\N	EFO	8	EFO	material property	Focal dermal hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2092	"" []	6470149	\N	\N	EFO	9	EFO	experimental factor	Focal dermal hypoplasia
Orphanet:209203	\N	\N	"" []	Orphanet:209203	"" []	74481	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
Orphanet:207049	Orphanet:209203	\N	"" []	Orphanet:209203	"" []	216442	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209203	"" []	570854	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209203	"" []	1152915	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209203	"" []	1152916	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209203	"" []	2035420	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209203	"" []	2035421	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209203	"" []	3185853	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209203	"" []	3185854	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209203	"" []	4393318	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209203	"" []	5411811	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209203	"" []	6148968	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
Orphanet:209224	\N	\N	"" []	Orphanet:209224	"" []	74482	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of myotilin	Qualitative or quantitative defects of myotilin
Orphanet:207049	Orphanet:209224	\N	"" []	Orphanet:209224	"" []	216443	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of myotilin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:209224	"" []	570855	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of myotilin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209224	"" []	1152917	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of myotilin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209224	"" []	1152918	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of myotilin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209224	"" []	2035422	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of myotilin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209224	"" []	2035423	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of myotilin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209224	"" []	3185855	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of myotilin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209224	"" []	3185856	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of myotilin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209224	"" []	4393319	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of myotilin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209224	"" []	5411812	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of myotilin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209224	"" []	6148969	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of myotilin
Orphanet:209335	\N	\N	"" []	Orphanet:209335	"" []	74483	\N	\N	EFO	0	EFO	Adult-onset proximal spinal muscular atrophy, autosomal dominant	Adult-onset proximal spinal muscular atrophy, autosomal dominant
Orphanet:211037	Orphanet:209335	\N	"" []	Orphanet:209335	"" []	216444	\N	\N	EFO	1	EFO	Autosomal dominant proximal spinal muscular atrophy	Adult-onset proximal spinal muscular atrophy, autosomal dominant
Orphanet:98505	Orphanet:211037	\N	"" []	Orphanet:209335	"" []	570856	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Adult-onset proximal spinal muscular atrophy, autosomal dominant
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:209335	"" []	1152919	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Adult-onset proximal spinal muscular atrophy, autosomal dominant
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209335	"" []	2035424	\N	\N	EFO	4	EFO	muscular disease	Adult-onset proximal spinal muscular atrophy, autosomal dominant
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209335	"" []	2035425	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Adult-onset proximal spinal muscular atrophy, autosomal dominant
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209335	"" []	3185857	\N	\N	EFO	5	EFO	skeletal system disease	Adult-onset proximal spinal muscular atrophy, autosomal dominant
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209335	"" []	3185858	\N	\N	EFO	5	EFO	genetic disorder	Adult-onset proximal spinal muscular atrophy, autosomal dominant
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209335	"" []	4393320	\N	\N	EFO	6	EFO	disease	Adult-onset proximal spinal muscular atrophy, autosomal dominant
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209335	"" []	4393321	\N	\N	EFO	6	EFO	disease	Adult-onset proximal spinal muscular atrophy, autosomal dominant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209335	"" []	5411813	\N	\N	EFO	7	EFO	disposition	Adult-onset proximal spinal muscular atrophy, autosomal dominant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209335	"" []	6148970	\N	\N	EFO	8	EFO	material property	Adult-onset proximal spinal muscular atrophy, autosomal dominant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209335	"" []	6632454	\N	\N	EFO	9	EFO	experimental factor	Adult-onset proximal spinal muscular atrophy, autosomal dominant
Orphanet:209341	\N	\N	"" []	Orphanet:209341	"" []	74484	\N	\N	EFO	0	EFO	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Orphanet:363447	Orphanet:209341	\N	"" []	Orphanet:209341	"" []	216445	\N	\N	EFO	1	EFO	Autosomal dominant childhood-onset proximal spinal muscular atrophy	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Orphanet:211037	Orphanet:363447	\N	"" []	Orphanet:209341	"" []	570857	\N	\N	EFO	2	EFO	Autosomal dominant proximal spinal muscular atrophy	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Orphanet:98505	Orphanet:211037	\N	"" []	Orphanet:209341	"" []	1152920	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:209341	"" []	2035426	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:209341	"" []	3185859	\N	\N	EFO	5	EFO	muscular disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:209341	"" []	3185860	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:209341	"" []	4393322	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209341	"" []	4393323	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209341	"" []	5411814	\N	\N	EFO	7	EFO	disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209341	"" []	5411815	\N	\N	EFO	7	EFO	disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209341	"" []	6148971	\N	\N	EFO	8	EFO	disposition	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209341	"" []	6632455	\N	\N	EFO	9	EFO	material property	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209341	"" []	6925527	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Orphanet:209370	\N	\N	"" []	Orphanet:209370	"" []	74485	\N	\N	EFO	0	EFO	Severe neonatal-onset encephalopathy with microcephaly	Severe neonatal-onset encephalopathy with microcephaly
Orphanet:166472	Orphanet:209370	\N	"" []	Orphanet:209370	"" []	216446	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Severe neonatal-onset encephalopathy with microcephaly
Orphanet:98257	Orphanet:209370	\N	"" []	Orphanet:209370	"" []	216447	\N	\N	EFO	1	EFO	Neonatal epilepsy syndrome	Severe neonatal-onset encephalopathy with microcephaly
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:209370	"" []	570858	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Severe neonatal-onset encephalopathy with microcephaly
Orphanet:166463	Orphanet:98257	\N	"" []	Orphanet:209370	"" []	570859	\N	\N	EFO	2	EFO	Epilepsy syndrome	Severe neonatal-onset encephalopathy with microcephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:209370	"" []	2035428	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Severe neonatal-onset encephalopathy with microcephaly
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:209370	"" []	1152922	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Severe neonatal-onset encephalopathy with microcephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209370	"" []	3000199	\N	\N	EFO	5	EFO	genetic disorder	Severe neonatal-onset encephalopathy with microcephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209370	"" []	4133495	\N	\N	EFO	6	EFO	disease	Severe neonatal-onset encephalopathy with microcephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209370	"" []	5181917	\N	\N	EFO	7	EFO	disposition	Severe neonatal-onset encephalopathy with microcephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209370	"" []	5997301	\N	\N	EFO	8	EFO	material property	Severe neonatal-onset encephalopathy with microcephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209370	"" []	6550769	\N	\N	EFO	9	EFO	experimental factor	Severe neonatal-onset encephalopathy with microcephaly
Orphanet:2095	\N	\N	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	74486	\N	\N	EFO	0	EFO	Gorlin-Chaudhry-Moss syndrome	Gorlin-Chaudhry-Moss syndrome
Orphanet:330206	Orphanet:2095	\N	"" []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	216448	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Gorlin-Chaudhry-Moss syndrome
Orphanet:79373	Orphanet:2095	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	216449	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Gorlin-Chaudhry-Moss syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	570860	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Gorlin-Chaudhry-Moss syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	570861	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Gorlin-Chaudhry-Moss syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	570862	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Gorlin-Chaudhry-Moss syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	1152923	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Gorlin-Chaudhry-Moss syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	1152924	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Gorlin-Chaudhry-Moss syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	1152925	\N	\N	EFO	3	EFO	Rare genetic skin disease	Gorlin-Chaudhry-Moss syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	2035429	\N	\N	EFO	4	EFO	genetic disorder	Gorlin-Chaudhry-Moss syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	2035430	\N	\N	EFO	4	EFO	genetic disorder	Gorlin-Chaudhry-Moss syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	2035431	\N	\N	EFO	4	EFO	skin disease	Gorlin-Chaudhry-Moss syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	3185862	\N	\N	EFO	5	EFO	disease	Gorlin-Chaudhry-Moss syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	3185863	\N	\N	EFO	5	EFO	disease	Gorlin-Chaudhry-Moss syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	4393325	\N	\N	EFO	6	EFO	disposition	Gorlin-Chaudhry-Moss syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	5411817	\N	\N	EFO	7	EFO	material property	Gorlin-Chaudhry-Moss syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2095	"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome, characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, hypoplasia of labia majora, and extremity, ocular and dental anomalies." []	6148973	\N	\N	EFO	8	EFO	experimental factor	Gorlin-Chaudhry-Moss syndrome
Orphanet:2097	\N	\N	"" []	Orphanet:2097	"" []	74487	\N	\N	EFO	0	EFO	Grant syndrome	Grant syndrome
Orphanet:93446	Orphanet:2097	\N	"" []	Orphanet:2097	"" []	216450	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Grant syndrome
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:2097	"" []	570863	\N	\N	EFO	2	EFO	Primary bone dysplasia	Grant syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2097	"" []	1152926	\N	\N	EFO	3	EFO	Rare genetic bone disease	Grant syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2097	"" []	1152927	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Grant syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2097	"" []	2035432	\N	\N	EFO	4	EFO	genetic disorder	Grant syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2097	"" []	2035433	\N	\N	EFO	4	EFO	bone disease	Grant syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2097	"" []	2035434	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Grant syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2097	"" []	4393328	\N	\N	EFO	6	EFO	disease	Grant syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2097	"" []	3185865	\N	\N	EFO	5	EFO	skeletal system disease	Grant syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2097	"" []	3185866	\N	\N	EFO	5	EFO	genetic disorder	Grant syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2097	"" []	5181918	\N	\N	EFO	7	EFO	disposition	Grant syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2097	"" []	4393327	\N	\N	EFO	6	EFO	disease	Grant syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2097	"" []	5997302	\N	\N	EFO	8	EFO	material property	Grant syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2097	"" []	6550770	\N	\N	EFO	9	EFO	experimental factor	Grant syndrome
Orphanet:2098	\N	\N	"" []	Orphanet:2098	"" []	74488	\N	\N	EFO	0	EFO	Acromesomelic dysplasia, Grebe type	Acromesomelic dysplasia, Grebe type
Orphanet:93437	Orphanet:2098	\N	"" []	Orphanet:2098	"" []	216451	\N	\N	EFO	1	EFO	Acromesomelic dysplasia	Acromesomelic dysplasia, Grebe type
Orphanet:364526	Orphanet:93437	\N	"" []	Orphanet:2098	"" []	570864	\N	\N	EFO	2	EFO	Primary bone dysplasia	Acromesomelic dysplasia, Grebe type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2098	"" []	1152928	\N	\N	EFO	3	EFO	Rare genetic bone disease	Acromesomelic dysplasia, Grebe type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2098	"" []	1152929	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Acromesomelic dysplasia, Grebe type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2098	"" []	2035435	\N	\N	EFO	4	EFO	genetic disorder	Acromesomelic dysplasia, Grebe type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2098	"" []	2035436	\N	\N	EFO	4	EFO	bone disease	Acromesomelic dysplasia, Grebe type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2098	"" []	2035437	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acromesomelic dysplasia, Grebe type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2098	"" []	4393331	\N	\N	EFO	6	EFO	disease	Acromesomelic dysplasia, Grebe type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2098	"" []	3185868	\N	\N	EFO	5	EFO	skeletal system disease	Acromesomelic dysplasia, Grebe type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2098	"" []	3185869	\N	\N	EFO	5	EFO	genetic disorder	Acromesomelic dysplasia, Grebe type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2098	"" []	5181919	\N	\N	EFO	7	EFO	disposition	Acromesomelic dysplasia, Grebe type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2098	"" []	4393330	\N	\N	EFO	6	EFO	disease	Acromesomelic dysplasia, Grebe type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2098	"" []	5997303	\N	\N	EFO	8	EFO	material property	Acromesomelic dysplasia, Grebe type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2098	"" []	6550771	\N	\N	EFO	9	EFO	experimental factor	Acromesomelic dysplasia, Grebe type
Orphanet:209867	\N	\N	"" []	Orphanet:209867	"" []	74489	\N	\N	EFO	0	EFO	Autosomal dominant rhegmatogenous retinal detachment	Autosomal dominant rhegmatogenous retinal detachment
EFO:0003839	Orphanet:209867	\N	"Any disease or disorder of the retina." []	Orphanet:209867	"" []	216452	\N	\N	EFO	1	EFO	retinopathy	Autosomal dominant rhegmatogenous retinal detachment
Orphanet:98670	Orphanet:209867	\N	"" []	Orphanet:209867	"" []	216453	\N	\N	EFO	1	EFO	Vitreoretinal degeneration	Autosomal dominant rhegmatogenous retinal detachment
EFO:0000524	EFO:0003839	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	Orphanet:209867	"" []	570865	\N	\N	EFO	2	EFO	head disease	Autosomal dominant rhegmatogenous retinal detachment
EFO:0003966	EFO:0003839	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:209867	"" []	570866	\N	\N	EFO	2	EFO	eye disease	Autosomal dominant rhegmatogenous retinal detachment
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:209867	"" []	570867	\N	\N	EFO	2	EFO	Vitreoretinopathy	Autosomal dominant rhegmatogenous retinal detachment
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209867	"" []	1152930	\N	\N	EFO	3	EFO	disease	Autosomal dominant rhegmatogenous retinal detachment
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209867	"" []	4393334	\N	\N	EFO	6	EFO	disease	Autosomal dominant rhegmatogenous retinal detachment
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:209867	"" []	1152932	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Autosomal dominant rhegmatogenous retinal detachment
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209867	"" []	5028410	\N	\N	EFO	7	EFO	disposition	Autosomal dominant rhegmatogenous retinal detachment
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:209867	"" []	2035439	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal dominant rhegmatogenous retinal detachment
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209867	"" []	5817545	\N	\N	EFO	8	EFO	material property	Autosomal dominant rhegmatogenous retinal detachment
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209867	"" []	3185871	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant rhegmatogenous retinal detachment
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:209867	"" []	3185872	\N	\N	EFO	5	EFO	eye disease	Autosomal dominant rhegmatogenous retinal detachment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209867	"" []	6409926	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant rhegmatogenous retinal detachment
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209867	"" []	4393333	\N	\N	EFO	6	EFO	disease	Autosomal dominant rhegmatogenous retinal detachment
Orphanet:209886	\N	\N	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	74490	\N	\N	EFO	0	EFO	Familial juvenile hyperuricemic nephropathy type 1	Familial juvenile hyperuricemic nephropathy type 1
Orphanet:79191	Orphanet:209886	\N	"" []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	216454	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Familial juvenile hyperuricemic nephropathy type 1
Orphanet:93587	Orphanet:209886	\N	"" []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	216455	\N	\N	EFO	1	EFO	Familial cystic renal disease	Familial juvenile hyperuricemic nephropathy type 1
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	570868	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Familial juvenile hyperuricemic nephropathy type 1
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	570869	\N	\N	EFO	2	EFO	kidney disease	Familial juvenile hyperuricemic nephropathy type 1
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	570870	\N	\N	EFO	2	EFO	Rare genetic renal disease	Familial juvenile hyperuricemic nephropathy type 1
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	1152933	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Familial juvenile hyperuricemic nephropathy type 1
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	1152934	\N	\N	EFO	3	EFO	disease	Familial juvenile hyperuricemic nephropathy type 1
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	1152935	\N	\N	EFO	3	EFO	genetic disorder	Familial juvenile hyperuricemic nephropathy type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	2035440	\N	\N	EFO	4	EFO	genetic disorder	Familial juvenile hyperuricemic nephropathy type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	2035441	\N	\N	EFO	4	EFO	metabolic disease	Familial juvenile hyperuricemic nephropathy type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	4133497	\N	\N	EFO	6	EFO	disposition	Familial juvenile hyperuricemic nephropathy type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	3185873	\N	\N	EFO	5	EFO	disease	Familial juvenile hyperuricemic nephropathy type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	3185874	\N	\N	EFO	5	EFO	disease	Familial juvenile hyperuricemic nephropathy type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	5059737	\N	\N	EFO	7	EFO	material property	Familial juvenile hyperuricemic nephropathy type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209886	"Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." []	5876943	\N	\N	EFO	8	EFO	experimental factor	Familial juvenile hyperuricemic nephropathy type 1
Orphanet:209893	\N	\N	"" []	Orphanet:209893	"" []	74491	\N	\N	EFO	0	EFO	Congenital isolated thyroxine-binding globulin deficiency	Congenital isolated thyroxine-binding globulin deficiency
Orphanet:183631	Orphanet:209893	\N	"" []	Orphanet:209893	"" []	216456	\N	\N	EFO	1	EFO	Rare genetic thyroid disease	Congenital isolated thyroxine-binding globulin deficiency
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:209893	"" []	570871	\N	\N	EFO	2	EFO	thyroid disease	Congenital isolated thyroxine-binding globulin deficiency
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:209893	"" []	570872	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Congenital isolated thyroxine-binding globulin deficiency
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:209893	"" []	1152936	\N	\N	EFO	3	EFO	endocrine system disease	Congenital isolated thyroxine-binding globulin deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209893	"" []	1152937	\N	\N	EFO	3	EFO	genetic disorder	Congenital isolated thyroxine-binding globulin deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:209893	"" []	1152938	\N	\N	EFO	3	EFO	endocrine system disease	Congenital isolated thyroxine-binding globulin deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209893	"" []	2035444	\N	\N	EFO	4	EFO	disease	Congenital isolated thyroxine-binding globulin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209893	"" []	2035445	\N	\N	EFO	4	EFO	disease	Congenital isolated thyroxine-binding globulin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209893	"" []	3185877	\N	\N	EFO	5	EFO	disposition	Congenital isolated thyroxine-binding globulin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209893	"" []	4393336	\N	\N	EFO	6	EFO	material property	Congenital isolated thyroxine-binding globulin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209893	"" []	5411820	\N	\N	EFO	7	EFO	experimental factor	Congenital isolated thyroxine-binding globulin deficiency
Orphanet:209902	\N	\N	"" []	Orphanet:209902	"" []	74492	\N	\N	EFO	0	EFO	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Orphanet:181422	Orphanet:209902	\N	"" []	Orphanet:209902	"" []	216457	\N	\N	EFO	1	EFO	Rare hyperlipidemia	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Orphanet:79168	Orphanet:209902	\N	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	Orphanet:209902	"" []	216458	\N	\N	EFO	1	EFO	Disorder of bile acid synthesis	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:209902	"" []	570873	\N	\N	EFO	2	EFO	Rare dyslipidemia	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Orphanet:79226	Orphanet:79168	\N	"" []	Orphanet:209902	"" []	570874	\N	\N	EFO	2	EFO	Sterol metabolism disorder	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:209902	"" []	1152939	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:209902	"" []	1152940	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:209902	"" []	1152941	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209902	"" []	2035446	\N	\N	EFO	4	EFO	genetic disorder	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:209902	"" []	2035447	\N	\N	EFO	4	EFO	endocrine system disease	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:209902	"" []	2035448	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209902	"" []	4393338	\N	\N	EFO	6	EFO	disease	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209902	"" []	3185879	\N	\N	EFO	5	EFO	disease	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209902	"" []	3185880	\N	\N	EFO	5	EFO	genetic disorder	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:209902	"" []	3185881	\N	\N	EFO	5	EFO	metabolic disease	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209902	"" []	5181921	\N	\N	EFO	7	EFO	disposition	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209902	"" []	4393339	\N	\N	EFO	6	EFO	disease	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209902	"" []	5997304	\N	\N	EFO	8	EFO	material property	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209902	"" []	6550772	\N	\N	EFO	9	EFO	experimental factor	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Orphanet:209905	\N	\N	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	74493	\N	\N	EFO	0	EFO	Brain-lung-thyroid syndrome	Brain-lung-thyroid syndrome
Orphanet:100049	Orphanet:209905	\N	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	216459	\N	\N	EFO	1	EFO	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Brain-lung-thyroid syndrome
Orphanet:177107	Orphanet:209905	\N	"" []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	216460	\N	\N	EFO	1	EFO	Syndromic hypothyroidism	Brain-lung-thyroid syndrome
Orphanet:183472	Orphanet:209905	\N	"" []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	216461	\N	\N	EFO	1	EFO	Genetic dermis disorder	Brain-lung-thyroid syndrome
Orphanet:306719	Orphanet:209905	\N	"" []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	216462	\N	\N	EFO	1	EFO	Neurodegenerative disease with chorea	Brain-lung-thyroid syndrome
Orphanet:264992	Orphanet:100049	\N	"" []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	570875	\N	\N	EFO	2	EFO	Genetic interstitial lung disease	Brain-lung-thyroid syndrome
Orphanet:226292	Orphanet:177107	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	570876	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Brain-lung-thyroid syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	570877	\N	\N	EFO	2	EFO	Rare genetic skin disease	Brain-lung-thyroid syndrome
EFO:0005772	Orphanet:306719	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	570878	\N	\N	EFO	2	EFO	neurodegenerative disease	Brain-lung-thyroid syndrome
Orphanet:183521	Orphanet:306719	\N	"" []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	570879	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Brain-lung-thyroid syndrome
Orphanet:156610	Orphanet:264992	\N	"" []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	1152942	\N	\N	EFO	3	EFO	Rare genetic respiratory disease	Brain-lung-thyroid syndrome
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	1152943	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Brain-lung-thyroid syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	1152944	\N	\N	EFO	3	EFO	genetic disorder	Brain-lung-thyroid syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	1152945	\N	\N	EFO	3	EFO	skin disease	Brain-lung-thyroid syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	1152946	\N	\N	EFO	3	EFO	nervous system disease	Brain-lung-thyroid syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	1152947	\N	\N	EFO	3	EFO	movement disorder	Brain-lung-thyroid syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	1152948	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Brain-lung-thyroid syndrome
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	2035449	\N	\N	EFO	4	EFO	genetic disorder	Brain-lung-thyroid syndrome
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	2035450	\N	\N	EFO	4	EFO	respiratory system disease	Brain-lung-thyroid syndrome
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	2035451	\N	\N	EFO	4	EFO	Rare hypothyroidism	Brain-lung-thyroid syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	6148978	\N	\N	EFO	8	EFO	disease	Brain-lung-thyroid syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	2035453	\N	\N	EFO	4	EFO	disease	Brain-lung-thyroid syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	3185886	\N	\N	EFO	5	EFO	disease	Brain-lung-thyroid syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	2035455	\N	\N	EFO	4	EFO	nervous system disease	Brain-lung-thyroid syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	2035456	\N	\N	EFO	4	EFO	genetic disorder	Brain-lung-thyroid syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	3185883	\N	\N	EFO	5	EFO	disease	Brain-lung-thyroid syndrome
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	3185884	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Brain-lung-thyroid syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	6378834	\N	\N	EFO	9	EFO	disposition	Brain-lung-thyroid syndrome
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	4393340	\N	\N	EFO	6	EFO	thyroid disease	Brain-lung-thyroid syndrome
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	4393341	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Brain-lung-thyroid syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	6778632	\N	\N	EFO	10	EFO	material property	Brain-lung-thyroid syndrome
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	5411822	\N	\N	EFO	7	EFO	endocrine system disease	Brain-lung-thyroid syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	5411823	\N	\N	EFO	7	EFO	genetic disorder	Brain-lung-thyroid syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	5411824	\N	\N	EFO	7	EFO	endocrine system disease	Brain-lung-thyroid syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	7029846	\N	\N	EFO	11	EFO	experimental factor	Brain-lung-thyroid syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209905	"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." []	6148977	\N	\N	EFO	8	EFO	disease	Brain-lung-thyroid syndrome
Orphanet:209908	\N	\N	"" []	Orphanet:209908	"" []	74494	\N	\N	EFO	0	EFO	Childhood apraxia of speech	Childhood apraxia of speech
Orphanet:71859	Orphanet:209908	\N	"" []	Orphanet:209908	"" []	216463	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Childhood apraxia of speech
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209908	"" []	570880	\N	\N	EFO	2	EFO	genetic disorder	Childhood apraxia of speech
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209908	"" []	1152949	\N	\N	EFO	3	EFO	disease	Childhood apraxia of speech
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209908	"" []	2035457	\N	\N	EFO	4	EFO	disposition	Childhood apraxia of speech
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209908	"" []	3185887	\N	\N	EFO	5	EFO	material property	Childhood apraxia of speech
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209908	"" []	4393343	\N	\N	EFO	6	EFO	experimental factor	Childhood apraxia of speech
Orphanet:209932	\N	\N	"" []	Orphanet:209932	"" []	74495	\N	\N	EFO	0	EFO	Cone dystrophy with supernormal rod response	Cone dystrophy with supernormal rod response
Orphanet:71862	Orphanet:209932	\N	"" []	Orphanet:209932	"" []	216464	\N	\N	EFO	1	EFO	Retinal dystrophy	Cone dystrophy with supernormal rod response
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:209932	"" []	570881	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Cone dystrophy with supernormal rod response
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:209932	"" []	1152950	\N	\N	EFO	3	EFO	Rare genetic eye disease	Cone dystrophy with supernormal rod response
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209932	"" []	2035458	\N	\N	EFO	4	EFO	genetic disorder	Cone dystrophy with supernormal rod response
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:209932	"" []	2035459	\N	\N	EFO	4	EFO	eye disease	Cone dystrophy with supernormal rod response
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209932	"" []	3185888	\N	\N	EFO	5	EFO	disease	Cone dystrophy with supernormal rod response
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209932	"" []	3185889	\N	\N	EFO	5	EFO	disease	Cone dystrophy with supernormal rod response
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209932	"" []	4393344	\N	\N	EFO	6	EFO	disposition	Cone dystrophy with supernormal rod response
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209932	"" []	5411826	\N	\N	EFO	7	EFO	material property	Cone dystrophy with supernormal rod response
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209932	"" []	6148979	\N	\N	EFO	8	EFO	experimental factor	Cone dystrophy with supernormal rod response
Orphanet:209943	\N	\N	"" []	Orphanet:209943	"" []	74496	\N	\N	EFO	0	EFO	IRVAN syndrome	IRVAN syndrome
Orphanet:98657	Orphanet:209943	\N	"" []	Orphanet:209943	"" []	216465	\N	\N	EFO	1	EFO	Genetic vitreous-retinal disease	IRVAN syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:209943	"" []	570882	\N	\N	EFO	2	EFO	Rare genetic eye disease	IRVAN syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209943	"" []	1152951	\N	\N	EFO	3	EFO	genetic disorder	IRVAN syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:209943	"" []	1152952	\N	\N	EFO	3	EFO	eye disease	IRVAN syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209943	"" []	2035460	\N	\N	EFO	4	EFO	disease	IRVAN syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209943	"" []	2035461	\N	\N	EFO	4	EFO	disease	IRVAN syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209943	"" []	3185890	\N	\N	EFO	5	EFO	disposition	IRVAN syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209943	"" []	4393345	\N	\N	EFO	6	EFO	material property	IRVAN syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209943	"" []	5411827	\N	\N	EFO	7	EFO	experimental factor	IRVAN syndrome
Orphanet:209951	\N	\N	"" []	Orphanet:209951	"" []	74497	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 18	Autosomal recessive spastic paraplegia type 18
Orphanet:100981	Orphanet:209951	\N	"" []	Orphanet:209951	"" []	216466	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 18
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:209951	"" []	570883	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 18
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:209951	"" []	1152953	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 18
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:209951	"" []	2035462	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 18
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:209951	"" []	3185891	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 18
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:209951	"" []	3185892	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 18
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:209951	"" []	3185893	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 18
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:209951	"" []	4393346	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 18
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:209951	"" []	4393347	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 18
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209951	"" []	4393348	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 18
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209951	"" []	5411828	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 18
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209951	"" []	5411829	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 18
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209951	"" []	6148980	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 18
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209951	"" []	6632456	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 18
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209951	"" []	6925528	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 18
Orphanet:209967	\N	\N	"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." []	Orphanet:209967	"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." []	74498	\N	\N	EFO	0	EFO	Episodic ataxia type 6	Episodic ataxia type 6
Orphanet:211062	Orphanet:209967	\N	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	Orphanet:209967	"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." []	216467	\N	\N	EFO	1	EFO	Hereditary episodic ataxia	Episodic ataxia type 6
Orphanet:183518	Orphanet:211062	\N	"" []	Orphanet:209967	"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." []	570884	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Episodic ataxia type 6
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:209967	"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." []	1152954	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Episodic ataxia type 6
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209967	"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." []	2035463	\N	\N	EFO	4	EFO	genetic disorder	Episodic ataxia type 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209967	"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." []	3185894	\N	\N	EFO	5	EFO	disease	Episodic ataxia type 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209967	"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." []	4393349	\N	\N	EFO	6	EFO	disposition	Episodic ataxia type 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209967	"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." []	5411830	\N	\N	EFO	7	EFO	material property	Episodic ataxia type 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209967	"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." []	6148981	\N	\N	EFO	8	EFO	experimental factor	Episodic ataxia type 6
Orphanet:209970	\N	\N	"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." []	Orphanet:209970	"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." []	74499	\N	\N	EFO	0	EFO	Episodic ataxia type 7	Episodic ataxia type 7
Orphanet:211062	Orphanet:209970	\N	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	Orphanet:209970	"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." []	216468	\N	\N	EFO	1	EFO	Hereditary episodic ataxia	Episodic ataxia type 7
Orphanet:183518	Orphanet:211062	\N	"" []	Orphanet:209970	"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." []	570885	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Episodic ataxia type 7
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:209970	"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." []	1152955	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Episodic ataxia type 7
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209970	"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." []	2035464	\N	\N	EFO	4	EFO	genetic disorder	Episodic ataxia type 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209970	"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." []	3185895	\N	\N	EFO	5	EFO	disease	Episodic ataxia type 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209970	"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." []	4393350	\N	\N	EFO	6	EFO	disposition	Episodic ataxia type 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209970	"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." []	5411831	\N	\N	EFO	7	EFO	material property	Episodic ataxia type 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209970	"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." []	6148982	\N	\N	EFO	8	EFO	experimental factor	Episodic ataxia type 7
Orphanet:209973	\N	\N	"" []	Orphanet:209973	"" []	74500	\N	\N	EFO	0	EFO	Benign familial nocturnal alternating hemiplegia of childhood	Benign familial nocturnal alternating hemiplegia of childhood
Orphanet:209978	Orphanet:209973	\N	"" []	Orphanet:209973	"" []	216469	\N	\N	EFO	1	EFO	Alternating hemiplegia	Benign familial nocturnal alternating hemiplegia of childhood
Orphanet:71859	Orphanet:209978	\N	"" []	Orphanet:209973	"" []	570886	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Benign familial nocturnal alternating hemiplegia of childhood
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209973	"" []	1152956	\N	\N	EFO	3	EFO	genetic disorder	Benign familial nocturnal alternating hemiplegia of childhood
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209973	"" []	2035465	\N	\N	EFO	4	EFO	disease	Benign familial nocturnal alternating hemiplegia of childhood
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209973	"" []	3185896	\N	\N	EFO	5	EFO	disposition	Benign familial nocturnal alternating hemiplegia of childhood
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209973	"" []	4393351	\N	\N	EFO	6	EFO	material property	Benign familial nocturnal alternating hemiplegia of childhood
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209973	"" []	5411832	\N	\N	EFO	7	EFO	experimental factor	Benign familial nocturnal alternating hemiplegia of childhood
Orphanet:209978	\N	\N	"" []	Orphanet:209978	"" []	74501	\N	\N	EFO	0	EFO	Alternating hemiplegia	Alternating hemiplegia
Orphanet:71859	Orphanet:209978	\N	"" []	Orphanet:209978	"" []	216470	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Alternating hemiplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209978	"" []	570887	\N	\N	EFO	2	EFO	genetic disorder	Alternating hemiplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209978	"" []	1152957	\N	\N	EFO	3	EFO	disease	Alternating hemiplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209978	"" []	2035466	\N	\N	EFO	4	EFO	disposition	Alternating hemiplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209978	"" []	3185897	\N	\N	EFO	5	EFO	material property	Alternating hemiplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209978	"" []	4393352	\N	\N	EFO	6	EFO	experimental factor	Alternating hemiplegia
Orphanet:209981	\N	\N	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	Orphanet:209981	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	74502	\N	\N	EFO	0	EFO	IRIDA syndrome	IRIDA syndrome
Orphanet:98360	Orphanet:209981	\N	"" []	Orphanet:209981	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	216471	\N	\N	EFO	1	EFO	Constitutional anemia due to iron metabolism disorder	IRIDA syndrome
Orphanet:248296	Orphanet:98360	\N	"" []	Orphanet:209981	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	570888	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	IRIDA syndrome
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:209981	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	1152958	\N	\N	EFO	3	EFO	Rare constitutional anemia	IRIDA syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:209981	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	2035467	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	IRIDA syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:209981	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	3185898	\N	\N	EFO	5	EFO	genetic disorder	IRIDA syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:209981	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	3185899	\N	\N	EFO	5	EFO	hematological system disease	IRIDA syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209981	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	4393353	\N	\N	EFO	6	EFO	disease	IRIDA syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:209981	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	4393354	\N	\N	EFO	6	EFO	disease	IRIDA syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:209981	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	5411833	\N	\N	EFO	7	EFO	disposition	IRIDA syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:209981	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	6148983	\N	\N	EFO	8	EFO	material property	IRIDA syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:209981	"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." []	6632457	\N	\N	EFO	9	EFO	experimental factor	IRIDA syndrome
Orphanet:2101	\N	\N	"" []	Orphanet:2101	"" []	74503	\N	\N	EFO	0	EFO	Grubben-de Cock-Borghgraef syndrome	Grubben-de Cock-Borghgraef syndrome
Orphanet:183763	Orphanet:2101	\N	"" []	Orphanet:2101	"" []	216472	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Grubben-de Cock-Borghgraef syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2101	"" []	570889	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Grubben-de Cock-Borghgraef syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2101	"" []	1152959	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Grubben-de Cock-Borghgraef syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2101	"" []	2035468	\N	\N	EFO	4	EFO	genetic disorder	Grubben-de Cock-Borghgraef syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2101	"" []	3185900	\N	\N	EFO	5	EFO	disease	Grubben-de Cock-Borghgraef syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2101	"" []	4393355	\N	\N	EFO	6	EFO	disposition	Grubben-de Cock-Borghgraef syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2101	"" []	5411834	\N	\N	EFO	7	EFO	material property	Grubben-de Cock-Borghgraef syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2101	"" []	6148984	\N	\N	EFO	8	EFO	experimental factor	Grubben-de Cock-Borghgraef syndrome
Orphanet:210110	\N	\N	"" []	Orphanet:210110	"" []	74504	\N	\N	EFO	0	EFO	Intermediate osteopetrosis	Intermediate osteopetrosis
Orphanet:2781	Orphanet:210110	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:210110	"" []	216473	\N	\N	EFO	1	EFO	Osteopetrosis	Intermediate osteopetrosis
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:210110	"" []	570890	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Intermediate osteopetrosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:210110	"" []	1152960	\N	\N	EFO	3	EFO	Primary bone dysplasia	Intermediate osteopetrosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:210110	"" []	2035469	\N	\N	EFO	4	EFO	Rare genetic bone disease	Intermediate osteopetrosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:210110	"" []	2035470	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Intermediate osteopetrosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210110	"" []	3185901	\N	\N	EFO	5	EFO	genetic disorder	Intermediate osteopetrosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:210110	"" []	3185902	\N	\N	EFO	5	EFO	bone disease	Intermediate osteopetrosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:210110	"" []	3185903	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Intermediate osteopetrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210110	"" []	5411837	\N	\N	EFO	7	EFO	disease	Intermediate osteopetrosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:210110	"" []	4393357	\N	\N	EFO	6	EFO	skeletal system disease	Intermediate osteopetrosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210110	"" []	4393358	\N	\N	EFO	6	EFO	genetic disorder	Intermediate osteopetrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:210110	"" []	5997306	\N	\N	EFO	8	EFO	disposition	Intermediate osteopetrosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210110	"" []	5411836	\N	\N	EFO	7	EFO	disease	Intermediate osteopetrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:210110	"" []	6550773	\N	\N	EFO	9	EFO	material property	Intermediate osteopetrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:210110	"" []	6889112	\N	\N	EFO	10	EFO	experimental factor	Intermediate osteopetrosis
Orphanet:210115	\N	\N	"" []	Orphanet:210115	"" []	74505	\N	\N	EFO	0	EFO	Sterile multifocal osteomyelitis with periostitis and pustulosis	Sterile multifocal osteomyelitis with periostitis and pustulosis
Orphanet:290839	Orphanet:210115	\N	"" []	Orphanet:210115	"" []	216474	\N	\N	EFO	1	EFO	Autoinflammatory syndrome with immune deficiency	Sterile multifocal osteomyelitis with periostitis and pustulosis
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:210115	"" []	570891	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Sterile multifocal osteomyelitis with periostitis and pustulosis
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:210115	"" []	1152961	\N	\N	EFO	3	EFO	Primary immunodeficiency	Sterile multifocal osteomyelitis with periostitis and pustulosis
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:210115	"" []	2035471	\N	\N	EFO	4	EFO	Rare genetic immune disease	Sterile multifocal osteomyelitis with periostitis and pustulosis
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210115	"" []	3185904	\N	\N	EFO	5	EFO	genetic disorder	Sterile multifocal osteomyelitis with periostitis and pustulosis
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:210115	"" []	3185905	\N	\N	EFO	5	EFO	immune system disease	Sterile multifocal osteomyelitis with periostitis and pustulosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210115	"" []	4393359	\N	\N	EFO	6	EFO	disease	Sterile multifocal osteomyelitis with periostitis and pustulosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210115	"" []	4393360	\N	\N	EFO	6	EFO	disease	Sterile multifocal osteomyelitis with periostitis and pustulosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:210115	"" []	5411838	\N	\N	EFO	7	EFO	disposition	Sterile multifocal osteomyelitis with periostitis and pustulosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:210115	"" []	6148986	\N	\N	EFO	8	EFO	material property	Sterile multifocal osteomyelitis with periostitis and pustulosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:210115	"" []	6632459	\N	\N	EFO	9	EFO	experimental factor	Sterile multifocal osteomyelitis with periostitis and pustulosis
Orphanet:210122	\N	\N	"" []	Orphanet:210122	"" []	74506	\N	\N	EFO	0	EFO	Congenital alveolar capillary dysplasia	Congenital alveolar capillary dysplasia
Orphanet:264992	Orphanet:210122	\N	"" []	Orphanet:210122	"" []	216475	\N	\N	EFO	1	EFO	Genetic interstitial lung disease	Congenital alveolar capillary dysplasia
Orphanet:156610	Orphanet:264992	\N	"" []	Orphanet:210122	"" []	570892	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Congenital alveolar capillary dysplasia
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210122	"" []	1152962	\N	\N	EFO	3	EFO	genetic disorder	Congenital alveolar capillary dysplasia
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:210122	"" []	1152963	\N	\N	EFO	3	EFO	respiratory system disease	Congenital alveolar capillary dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210122	"" []	2035472	\N	\N	EFO	4	EFO	disease	Congenital alveolar capillary dysplasia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210122	"" []	2035473	\N	\N	EFO	4	EFO	disease	Congenital alveolar capillary dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:210122	"" []	3185906	\N	\N	EFO	5	EFO	disposition	Congenital alveolar capillary dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:210122	"" []	4393361	\N	\N	EFO	6	EFO	material property	Congenital alveolar capillary dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:210122	"" []	5411839	\N	\N	EFO	7	EFO	experimental factor	Congenital alveolar capillary dysplasia
Orphanet:210128	\N	\N	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	74507	\N	\N	EFO	0	EFO	Urocanic aciduria	Urocanic aciduria
Orphanet:68385	Orphanet:210128	\N	"" []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	216476	\N	\N	EFO	1	EFO	Neurometabolic disease	Urocanic aciduria
Orphanet:79181	Orphanet:210128	\N	"" []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	216477	\N	\N	EFO	1	EFO	Disorder of histidine metabolism	Urocanic aciduria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	570893	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Urocanic aciduria
Orphanet:79062	Orphanet:79181	\N	"" []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	570894	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Urocanic aciduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	1152964	\N	\N	EFO	3	EFO	genetic disorder	Urocanic aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	1152965	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Urocanic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	3185908	\N	\N	EFO	5	EFO	disease	Urocanic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	2035475	\N	\N	EFO	4	EFO	genetic disorder	Urocanic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	2035476	\N	\N	EFO	4	EFO	metabolic disease	Urocanic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	4133499	\N	\N	EFO	6	EFO	disposition	Urocanic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	3185909	\N	\N	EFO	5	EFO	disease	Urocanic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	5181923	\N	\N	EFO	7	EFO	material property	Urocanic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:210128	"Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." []	5997307	\N	\N	EFO	8	EFO	experimental factor	Urocanic aciduria
Orphanet:210133	\N	\N	"" []	Orphanet:210133	"" []	74508	\N	\N	EFO	0	EFO	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
Orphanet:79370	Orphanet:210133	\N	"" []	Orphanet:210133	"" []	216478	\N	\N	EFO	1	EFO	Syndromic nail anomaly	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:210133	"" []	570895	\N	\N	EFO	2	EFO	Genetic nail anomaly	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:210133	"" []	1152966	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:210133	"" []	2035477	\N	\N	EFO	4	EFO	Rare genetic skin disease	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210133	"" []	3185910	\N	\N	EFO	5	EFO	genetic disorder	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:210133	"" []	3185911	\N	\N	EFO	5	EFO	skin disease	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210133	"" []	4393363	\N	\N	EFO	6	EFO	disease	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210133	"" []	4393364	\N	\N	EFO	6	EFO	disease	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:210133	"" []	5411841	\N	\N	EFO	7	EFO	disposition	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:210133	"" []	6148987	\N	\N	EFO	8	EFO	material property	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:210133	"" []	6632460	\N	\N	EFO	9	EFO	experimental factor	Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
Orphanet:210141	\N	\N	"" []	Orphanet:210141	"" []	74509	\N	\N	EFO	0	EFO	Inherited congenital spastic tetraplegia	Inherited congenital spastic tetraplegia
Orphanet:71859	Orphanet:210141	\N	"" []	Orphanet:210141	"" []	216479	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Inherited congenital spastic tetraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210141	"" []	570896	\N	\N	EFO	2	EFO	genetic disorder	Inherited congenital spastic tetraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210141	"" []	1152967	\N	\N	EFO	3	EFO	disease	Inherited congenital spastic tetraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:210141	"" []	2035478	\N	\N	EFO	4	EFO	disposition	Inherited congenital spastic tetraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:210141	"" []	3185912	\N	\N	EFO	5	EFO	material property	Inherited congenital spastic tetraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:210141	"" []	4393365	\N	\N	EFO	6	EFO	experimental factor	Inherited congenital spastic tetraplegia
Orphanet:210144	\N	\N	"" []	Orphanet:210144	"" []	74510	\N	\N	EFO	0	EFO	Lethal polymalformative syndrome, Boissel type	Lethal polymalformative syndrome, Boissel type
Orphanet:183533	Orphanet:210144	\N	"" []	Orphanet:210144	"" []	216480	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lethal polymalformative syndrome, Boissel type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:210144	"" []	570897	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Lethal polymalformative syndrome, Boissel type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210144	"" []	1152968	\N	\N	EFO	3	EFO	genetic disorder	Lethal polymalformative syndrome, Boissel type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210144	"" []	2035479	\N	\N	EFO	4	EFO	disease	Lethal polymalformative syndrome, Boissel type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:210144	"" []	3185913	\N	\N	EFO	5	EFO	disposition	Lethal polymalformative syndrome, Boissel type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:210144	"" []	4393366	\N	\N	EFO	6	EFO	material property	Lethal polymalformative syndrome, Boissel type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:210144	"" []	5411842	\N	\N	EFO	7	EFO	experimental factor	Lethal polymalformative syndrome, Boissel type
Orphanet:210163	\N	\N	"" []	Orphanet:210163	"" []	74511	\N	\N	EFO	0	EFO	Congenital lethal myopathy, Compton-North type	Congenital lethal myopathy, Compton-North type
Orphanet:97245	Orphanet:210163	\N	"" []	Orphanet:210163	"" []	216481	\N	\N	EFO	1	EFO	Congenital myopathy	Congenital lethal myopathy, Compton-North type
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:210163	"" []	570898	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Congenital lethal myopathy, Compton-North type
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:210163	"" []	1152969	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital lethal myopathy, Compton-North type
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:210163	"" []	2035480	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital lethal myopathy, Compton-North type
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:210163	"" []	3185914	\N	\N	EFO	5	EFO	muscular disease	Congenital lethal myopathy, Compton-North type
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:210163	"" []	3185915	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital lethal myopathy, Compton-North type
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:210163	"" []	4393367	\N	\N	EFO	6	EFO	skeletal system disease	Congenital lethal myopathy, Compton-North type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210163	"" []	4393368	\N	\N	EFO	6	EFO	genetic disorder	Congenital lethal myopathy, Compton-North type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210163	"" []	5411843	\N	\N	EFO	7	EFO	disease	Congenital lethal myopathy, Compton-North type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210163	"" []	5411844	\N	\N	EFO	7	EFO	disease	Congenital lethal myopathy, Compton-North type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:210163	"" []	6148988	\N	\N	EFO	8	EFO	disposition	Congenital lethal myopathy, Compton-North type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:210163	"" []	6632461	\N	\N	EFO	9	EFO	material property	Congenital lethal myopathy, Compton-North type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:210163	"" []	6925529	\N	\N	EFO	10	EFO	experimental factor	Congenital lethal myopathy, Compton-North type
Orphanet:2102	\N	\N	"" []	Orphanet:2102	"" []	74512	\N	\N	EFO	0	EFO	GTP cyclohydrolase I deficiency	GTP cyclohydrolase I deficiency
Orphanet:238583	Orphanet:2102	\N	"" []	Orphanet:2102	"" []	216482	\N	\N	EFO	1	EFO	Hyperphenylalaninemia	GTP cyclohydrolase I deficiency
Orphanet:309819	Orphanet:238583	\N	"" []	Orphanet:2102	"" []	570899	\N	\N	EFO	2	EFO	Disorder of pterin metabolism	GTP cyclohydrolase I deficiency
Orphanet:68385	Orphanet:238583	\N	"" []	Orphanet:2102	"" []	570900	\N	\N	EFO	2	EFO	Neurometabolic disease	GTP cyclohydrolase I deficiency
Orphanet:79169	Orphanet:309819	\N	"" []	Orphanet:2102	"" []	1152970	\N	\N	EFO	3	EFO	Disorder of neurotransmitter metabolism and transport	GTP cyclohydrolase I deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:2102	"" []	1152971	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	GTP cyclohydrolase I deficiency
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:2102	"" []	2035481	\N	\N	EFO	4	EFO	Disorder of biogenic amine metabolism and transport	GTP cyclohydrolase I deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2102	"" []	2035482	\N	\N	EFO	4	EFO	genetic disorder	GTP cyclohydrolase I deficiency
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:2102	"" []	3185916	\N	\N	EFO	5	EFO	Inborn errors of metabolism	GTP cyclohydrolase I deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2102	"" []	5411845	\N	\N	EFO	7	EFO	disease	GTP cyclohydrolase I deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2102	"" []	4393369	\N	\N	EFO	6	EFO	genetic disorder	GTP cyclohydrolase I deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2102	"" []	4393370	\N	\N	EFO	6	EFO	metabolic disease	GTP cyclohydrolase I deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2102	"" []	5876944	\N	\N	EFO	8	EFO	disposition	GTP cyclohydrolase I deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2102	"" []	5411846	\N	\N	EFO	7	EFO	disease	GTP cyclohydrolase I deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2102	"" []	6470150	\N	\N	EFO	9	EFO	material property	GTP cyclohydrolase I deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2102	"" []	6848383	\N	\N	EFO	10	EFO	experimental factor	GTP cyclohydrolase I deficiency
Orphanet:210548	\N	\N	"" []	Orphanet:210548	"" []	74513	\N	\N	EFO	0	EFO	Macrocephaly-autism syndrome	Macrocephaly-autism syndrome
Orphanet:180772	Orphanet:210548	\N	"" []	Orphanet:210548	"" []	216483	\N	\N	EFO	1	EFO	Rare disease with autism	Macrocephaly-autism syndrome
Orphanet:269564	Orphanet:210548	\N	"" []	Orphanet:210548	"" []	216484	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Macrocephaly-autism syndrome
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:210548	"" []	570901	\N	\N	EFO	2	EFO	Rare pervasive developmental disorder	Macrocephaly-autism syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:210548	"" []	570902	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Macrocephaly-autism syndrome
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:210548	"" []	1152972	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Macrocephaly-autism syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:210548	"" []	1152973	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Macrocephaly-autism syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:210548	"" []	1152974	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Macrocephaly-autism syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210548	"" []	2035483	\N	\N	EFO	4	EFO	genetic disorder	Macrocephaly-autism syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210548	"" []	2035484	\N	\N	EFO	4	EFO	genetic disorder	Macrocephaly-autism syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210548	"" []	3185918	\N	\N	EFO	5	EFO	disease	Macrocephaly-autism syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:210548	"" []	4393372	\N	\N	EFO	6	EFO	disposition	Macrocephaly-autism syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:210548	"" []	5411848	\N	\N	EFO	7	EFO	material property	Macrocephaly-autism syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:210548	"" []	6148990	\N	\N	EFO	8	EFO	experimental factor	Macrocephaly-autism syndrome
Orphanet:210571	\N	\N	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	74514	\N	\N	EFO	0	EFO	Dystonia 16	Dystonia 16
Orphanet:307055	Orphanet:210571	\N	"" []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	216485	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Dystonia 16
Orphanet:391711	Orphanet:210571	\N	"" []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	216486	\N	\N	EFO	1	EFO	Persistent combined dystonia	Dystonia 16
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	570903	\N	\N	EFO	2	EFO	neurodegenerative disease	Dystonia 16
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	570904	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Dystonia 16
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	570905	\N	\N	EFO	2	EFO	Combined dystonia	Dystonia 16
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	1152975	\N	\N	EFO	3	EFO	nervous system disease	Dystonia 16
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	1152976	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Dystonia 16
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	1152977	\N	\N	EFO	3	EFO	Rare genetic dystonia	Dystonia 16
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	5181924	\N	\N	EFO	7	EFO	disease	Dystonia 16
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	3185922	\N	\N	EFO	5	EFO	movement disorder	Dystonia 16
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	3185923	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Dystonia 16
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	2035488	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Dystonia 16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	5817546	\N	\N	EFO	8	EFO	disposition	Dystonia 16
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	4133500	\N	\N	EFO	6	EFO	nervous system disease	Dystonia 16
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	4133501	\N	\N	EFO	6	EFO	genetic disorder	Dystonia 16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	6409927	\N	\N	EFO	9	EFO	material property	Dystonia 16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	5181925	\N	\N	EFO	7	EFO	disease	Dystonia 16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:210571	"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." []	6807770	\N	\N	EFO	10	EFO	experimental factor	Dystonia 16
Orphanet:2107	\N	\N	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	74515	\N	\N	EFO	0	EFO	Hall-Riggs syndrome	Hall-Riggs syndrome
Orphanet:102283	Orphanet:2107	\N	"" []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	216487	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Hall-Riggs syndrome
Orphanet:183763	Orphanet:2107	\N	"" []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	216488	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hall-Riggs syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	570906	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hall-Riggs syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	570907	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hall-Riggs syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	1152978	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hall-Riggs syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	1152979	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hall-Riggs syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	2035489	\N	\N	EFO	4	EFO	genetic disorder	Hall-Riggs syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	2035490	\N	\N	EFO	4	EFO	genetic disorder	Hall-Riggs syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	3185924	\N	\N	EFO	5	EFO	disease	Hall-Riggs syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	4393376	\N	\N	EFO	6	EFO	disposition	Hall-Riggs syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	5411850	\N	\N	EFO	7	EFO	material property	Hall-Riggs syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2107	"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." []	6148991	\N	\N	EFO	8	EFO	experimental factor	Hall-Riggs syndrome
Orphanet:2108	\N	\N	"" []	Orphanet:2108	"" []	74516	\N	\N	EFO	0	EFO	Hallermann-Streiff syndrome	Hallermann-Streiff syndrome
Orphanet:183570	Orphanet:2108	\N	"" []	Orphanet:2108	"" []	216489	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Hallermann-Streiff syndrome
Orphanet:183763	Orphanet:2108	\N	"" []	Orphanet:2108	"" []	216490	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hallermann-Streiff syndrome
Orphanet:330197	Orphanet:2108	\N	"" []	Orphanet:2108	"" []	216491	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Hallermann-Streiff syndrome
Orphanet:79373	Orphanet:2108	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2108	"" []	216492	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Hallermann-Streiff syndrome
Orphanet:79389	Orphanet:2108	\N	"" []	Orphanet:2108	"" []	216493	\N	\N	EFO	1	EFO	Premature aging	Hallermann-Streiff syndrome
Orphanet:93440	Orphanet:2108	\N	"" []	Orphanet:2108	"" []	216494	\N	\N	EFO	1	EFO	Slender bone dysplasia	Hallermann-Streiff syndrome
Orphanet:98598	Orphanet:2108	\N	"" []	Orphanet:2108	"" []	216495	\N	\N	EFO	1	EFO	Congenital absence of the eyebrow/eyelashes	Hallermann-Streiff syndrome
Orphanet:98650	Orphanet:2108	\N	"" []	Orphanet:2108	"" []	216496	\N	\N	EFO	1	EFO	Craniofacial anomaly with cataract	Hallermann-Streiff syndrome
Orphanet:98709	Orphanet:2108	\N	"" []	Orphanet:2108	"" []	216497	\N	\N	EFO	1	EFO	Ectodermal malformation syndrome associated with ocular features	Hallermann-Streiff syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:2108	"" []	570908	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hallermann-Streiff syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2108	"" []	570909	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hallermann-Streiff syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2108	"" []	570910	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hallermann-Streiff syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2108	"" []	570911	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Hallermann-Streiff syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2108	"" []	570912	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Hallermann-Streiff syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:2108	"" []	570913	\N	\N	EFO	2	EFO	Rare genetic skin disease	Hallermann-Streiff syndrome
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:2108	"" []	570914	\N	\N	EFO	2	EFO	Primary bone dysplasia	Hallermann-Streiff syndrome
Orphanet:98594	Orphanet:98598	\N	"" []	Orphanet:2108	"" []	570915	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Hallermann-Streiff syndrome
Orphanet:98643	Orphanet:98650	\N	"" []	Orphanet:2108	"" []	570916	\N	\N	EFO	2	EFO	Systemic disease with cataract	Hallermann-Streiff syndrome
Orphanet:101435	Orphanet:98709	\N	"" []	Orphanet:2108	"" []	570917	\N	\N	EFO	2	EFO	Rare genetic eye disease	Hallermann-Streiff syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2108	"" []	3185927	\N	\N	EFO	5	EFO	genetic disorder	Hallermann-Streiff syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2108	"" []	1152981	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hallermann-Streiff syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2108	"" []	1152982	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hallermann-Streiff syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2108	"" []	1152983	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hallermann-Streiff syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2108	"" []	1152984	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hallermann-Streiff syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2108	"" []	2035494	\N	\N	EFO	4	EFO	genetic disorder	Hallermann-Streiff syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2108	"" []	2035495	\N	\N	EFO	4	EFO	skin disease	Hallermann-Streiff syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2108	"" []	1152987	\N	\N	EFO	3	EFO	Rare genetic bone disease	Hallermann-Streiff syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2108	"" []	1152988	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Hallermann-Streiff syndrome
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:2108	"" []	1152989	\N	\N	EFO	3	EFO	Rare palpebral disease	Hallermann-Streiff syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:2108	"" []	1152990	\N	\N	EFO	3	EFO	Syndromic cataract	Hallermann-Streiff syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2108	"" []	5411852	\N	\N	EFO	7	EFO	genetic disorder	Hallermann-Streiff syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2108	"" []	5411853	\N	\N	EFO	7	EFO	eye disease	Hallermann-Streiff syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2108	"" []	5801847	\N	\N	EFO	8	EFO	disease	Hallermann-Streiff syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2108	"" []	2035492	\N	\N	EFO	4	EFO	genetic disorder	Hallermann-Streiff syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2108	"" []	3000201	\N	\N	EFO	5	EFO	disease	Hallermann-Streiff syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2108	"" []	2035497	\N	\N	EFO	4	EFO	genetic disorder	Hallermann-Streiff syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2108	"" []	2035498	\N	\N	EFO	4	EFO	bone disease	Hallermann-Streiff syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2108	"" []	2035499	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hallermann-Streiff syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2108	"" []	2035500	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Hallermann-Streiff syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:2108	"" []	2035501	\N	\N	EFO	4	EFO	Rare cataract	Hallermann-Streiff syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2108	"" []	5801848	\N	\N	EFO	8	EFO	disease	Hallermann-Streiff syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2108	"" []	6378835	\N	\N	EFO	9	EFO	disposition	Hallermann-Streiff syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2108	"" []	3185926	\N	\N	EFO	5	EFO	skeletal system disease	Hallermann-Streiff syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2108	"" []	3185928	\N	\N	EFO	5	EFO	Rare genetic eye disease	Hallermann-Streiff syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:2108	"" []	3185929	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Hallermann-Streiff syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2108	"" []	6778633	\N	\N	EFO	10	EFO	material property	Hallermann-Streiff syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2108	"" []	4393378	\N	\N	EFO	6	EFO	disease	Hallermann-Streiff syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:2108	"" []	4393381	\N	\N	EFO	6	EFO	Rare genetic eye disease	Hallermann-Streiff syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2108	"" []	7029847	\N	\N	EFO	11	EFO	experimental factor	Hallermann-Streiff syndrome
Orphanet:211	\N	\N	"" []	Orphanet:211	"" []	74517	\N	\N	EFO	0	EFO	Familial cylindromatosis	Familial cylindromatosis
Orphanet:79493	Orphanet:211	\N	"" []	Orphanet:211	"" []	216498	\N	\N	EFO	1	EFO	Brooke-Spiegler syndrome	Familial cylindromatosis
Orphanet:183487	Orphanet:79493	\N	"" []	Orphanet:211	"" []	570918	\N	\N	EFO	2	EFO	Genetic skin tumor	Familial cylindromatosis
Orphanet:98590	Orphanet:79493	\N	"" []	Orphanet:211	"" []	570919	\N	\N	EFO	2	EFO	Palpebral piliary tumor	Familial cylindromatosis
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:211	"" []	1152993	\N	\N	EFO	3	EFO	skin neoplasm	Familial cylindromatosis
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:211	"" []	1152994	\N	\N	EFO	3	EFO	Rare genetic tumor	Familial cylindromatosis
Orphanet:98580	Orphanet:98590	\N	"" []	Orphanet:211	"" []	1152995	\N	\N	EFO	3	EFO	Palpebral tumor	Familial cylindromatosis
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:211	"" []	2035503	\N	\N	EFO	4	EFO	neoplasm	Familial cylindromatosis
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:211	"" []	2035504	\N	\N	EFO	4	EFO	skin disease	Familial cylindromatosis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:211	"" []	2035505	\N	\N	EFO	4	EFO	genetic disorder	Familial cylindromatosis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:211	"" []	2035506	\N	\N	EFO	4	EFO	neoplasm	Familial cylindromatosis
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:211	"" []	2035507	\N	\N	EFO	4	EFO	Rare palpebral disease	Familial cylindromatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:211	"" []	3185930	\N	\N	EFO	5	EFO	disease	Familial cylindromatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:211	"" []	3185931	\N	\N	EFO	5	EFO	disease	Familial cylindromatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:211	"" []	6148993	\N	\N	EFO	8	EFO	disease	Familial cylindromatosis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:211	"" []	3185933	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Familial cylindromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:211	"" []	6409929	\N	\N	EFO	9	EFO	disposition	Familial cylindromatosis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:211	"" []	4393383	\N	\N	EFO	6	EFO	Rare genetic eye disease	Familial cylindromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:211	"" []	6807772	\N	\N	EFO	10	EFO	material property	Familial cylindromatosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:211	"" []	5411855	\N	\N	EFO	7	EFO	genetic disorder	Familial cylindromatosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:211	"" []	5411856	\N	\N	EFO	7	EFO	eye disease	Familial cylindromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:211	"" []	7048589	\N	\N	EFO	11	EFO	experimental factor	Familial cylindromatosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:211	"" []	6148994	\N	\N	EFO	8	EFO	disease	Familial cylindromatosis
Orphanet:2110	\N	\N	"" []	Orphanet:2110	"" []	74518	\N	\N	EFO	0	EFO	Hallux varus - preaxial polysyndactyly	Hallux varus - preaxial polysyndactyly
Orphanet:294959	Orphanet:2110	\N	"" []	Orphanet:2110	"" []	216499	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Hallux varus - preaxial polysyndactyly
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2110	"" []	570920	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Hallux varus - preaxial polysyndactyly
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2110	"" []	570921	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Hallux varus - preaxial polysyndactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2110	"" []	1152996	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Hallux varus - preaxial polysyndactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2110	"" []	1152997	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Hallux varus - preaxial polysyndactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2110	"" []	2035508	\N	\N	EFO	4	EFO	Rare genetic bone disease	Hallux varus - preaxial polysyndactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2110	"" []	2035509	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Hallux varus - preaxial polysyndactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2110	"" []	2035510	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hallux varus - preaxial polysyndactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2110	"" []	3185934	\N	\N	EFO	5	EFO	genetic disorder	Hallux varus - preaxial polysyndactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2110	"" []	3185935	\N	\N	EFO	5	EFO	bone disease	Hallux varus - preaxial polysyndactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2110	"" []	3185936	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hallux varus - preaxial polysyndactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2110	"" []	4393386	\N	\N	EFO	6	EFO	genetic disorder	Hallux varus - preaxial polysyndactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2110	"" []	5181927	\N	\N	EFO	7	EFO	disease	Hallux varus - preaxial polysyndactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2110	"" []	4393385	\N	\N	EFO	6	EFO	skeletal system disease	Hallux varus - preaxial polysyndactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2110	"" []	5997309	\N	\N	EFO	8	EFO	disposition	Hallux varus - preaxial polysyndactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2110	"" []	5411858	\N	\N	EFO	7	EFO	disease	Hallux varus - preaxial polysyndactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2110	"" []	6550774	\N	\N	EFO	9	EFO	material property	Hallux varus - preaxial polysyndactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2110	"" []	6889113	\N	\N	EFO	10	EFO	experimental factor	Hallux varus - preaxial polysyndactyly
Orphanet:211017	\N	\N	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	74519	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 30	Spinocerebellar ataxia type 30
Orphanet:94148	Orphanet:211017	\N	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	216500	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 3	Spinocerebellar ataxia type 30
Orphanet:99	Orphanet:94148	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	570922	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 30
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	1152998	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 30
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	1152999	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 30
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	1153000	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 30
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	2035511	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 30
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	2035512	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 30
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	2035513	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 30
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	6148998	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 30
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	3185939	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 30
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	3185940	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 30
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	6409930	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 30
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	4393388	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 30
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	4393389	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 30
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	4393390	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 30
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	6807773	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 30
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	5411860	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 30
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	5411861	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 30
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	5411862	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 30
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	5411863	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 30
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	5411864	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 30
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	5411865	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 30
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	5411866	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 30
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	7048590	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 30
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	6148997	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 30
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	6148999	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 30
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	6149001	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 30
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	7190198	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 30
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:211017	"Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by a slowly progressive and relatively pure ataxia." []	6632464	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 30
Orphanet:211037	\N	\N	"" []	Orphanet:211037	"" []	74520	\N	\N	EFO	0	EFO	Autosomal dominant proximal spinal muscular atrophy	Autosomal dominant proximal spinal muscular atrophy
Orphanet:98505	Orphanet:211037	\N	"" []	Orphanet:211037	"" []	216501	\N	\N	EFO	1	EFO	Genetic motor neuron disease	Autosomal dominant proximal spinal muscular atrophy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:211037	"" []	570923	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Autosomal dominant proximal spinal muscular atrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:211037	"" []	1153001	\N	\N	EFO	3	EFO	muscular disease	Autosomal dominant proximal spinal muscular atrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:211037	"" []	1153002	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant proximal spinal muscular atrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:211037	"" []	2035514	\N	\N	EFO	4	EFO	skeletal system disease	Autosomal dominant proximal spinal muscular atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:211037	"" []	2035515	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant proximal spinal muscular atrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:211037	"" []	3185941	\N	\N	EFO	5	EFO	disease	Autosomal dominant proximal spinal muscular atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:211037	"" []	3185942	\N	\N	EFO	5	EFO	disease	Autosomal dominant proximal spinal muscular atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:211037	"" []	4393391	\N	\N	EFO	6	EFO	disposition	Autosomal dominant proximal spinal muscular atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:211037	"" []	5411867	\N	\N	EFO	7	EFO	material property	Autosomal dominant proximal spinal muscular atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:211037	"" []	6149002	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant proximal spinal muscular atrophy
Orphanet:211062	\N	\N	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	Orphanet:211062	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	74521	\N	\N	EFO	0	EFO	Hereditary episodic ataxia	Hereditary episodic ataxia
Orphanet:183518	Orphanet:211062	\N	"" []	Orphanet:211062	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	216502	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Hereditary episodic ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:211062	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	570924	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hereditary episodic ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:211062	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	1153003	\N	\N	EFO	3	EFO	genetic disorder	Hereditary episodic ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:211062	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	2035516	\N	\N	EFO	4	EFO	disease	Hereditary episodic ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:211062	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	3185943	\N	\N	EFO	5	EFO	disposition	Hereditary episodic ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:211062	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	4393392	\N	\N	EFO	6	EFO	material property	Hereditary episodic ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:211062	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	5411868	\N	\N	EFO	7	EFO	experimental factor	Hereditary episodic ataxia
Orphanet:211067	\N	\N	"Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." []	Orphanet:211067	"Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." []	74522	\N	\N	EFO	0	EFO	Episodic ataxia type 5	Episodic ataxia type 5
Orphanet:211062	Orphanet:211067	\N	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	Orphanet:211067	"Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." []	216503	\N	\N	EFO	1	EFO	Hereditary episodic ataxia	Episodic ataxia type 5
Orphanet:183518	Orphanet:211062	\N	"" []	Orphanet:211067	"Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." []	570925	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Episodic ataxia type 5
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:211067	"Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." []	1153004	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Episodic ataxia type 5
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:211067	"Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." []	2035517	\N	\N	EFO	4	EFO	genetic disorder	Episodic ataxia type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:211067	"Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." []	3185944	\N	\N	EFO	5	EFO	disease	Episodic ataxia type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:211067	"Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." []	4393393	\N	\N	EFO	6	EFO	disposition	Episodic ataxia type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:211067	"Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." []	5411869	\N	\N	EFO	7	EFO	material property	Episodic ataxia type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:211067	"Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." []	6149003	\N	\N	EFO	8	EFO	experimental factor	Episodic ataxia type 5
Orphanet:211240	\N	\N	"" []	Orphanet:211240	"" []	74523	\N	\N	EFO	0	EFO	Genetic vascular anomaly	Genetic vascular anomaly
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:211240	"" []	216504	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic vascular anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:211240	"" []	570926	\N	\N	EFO	2	EFO	genetic disorder	Genetic vascular anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:211240	"" []	1153005	\N	\N	EFO	3	EFO	disease	Genetic vascular anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:211240	"" []	2035518	\N	\N	EFO	4	EFO	disposition	Genetic vascular anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:211240	"" []	3185945	\N	\N	EFO	5	EFO	material property	Genetic vascular anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:211240	"" []	4393394	\N	\N	EFO	6	EFO	experimental factor	Genetic vascular anomaly
Orphanet:2114	\N	\N	"" []	Orphanet:2114	"" []	74524	\N	\N	EFO	0	EFO	Hip dysplasia, Beukes type	Hip dysplasia, Beukes type
Orphanet:93429	Orphanet:2114	\N	"" []	Orphanet:2114	"" []	216505	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Hip dysplasia, Beukes type
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:2114	"" []	570927	\N	\N	EFO	2	EFO	Primary bone dysplasia	Hip dysplasia, Beukes type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2114	"" []	1153006	\N	\N	EFO	3	EFO	Rare genetic bone disease	Hip dysplasia, Beukes type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2114	"" []	1153007	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Hip dysplasia, Beukes type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2114	"" []	2035519	\N	\N	EFO	4	EFO	genetic disorder	Hip dysplasia, Beukes type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2114	"" []	2035520	\N	\N	EFO	4	EFO	bone disease	Hip dysplasia, Beukes type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2114	"" []	2035521	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hip dysplasia, Beukes type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2114	"" []	4393397	\N	\N	EFO	6	EFO	disease	Hip dysplasia, Beukes type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2114	"" []	3185947	\N	\N	EFO	5	EFO	skeletal system disease	Hip dysplasia, Beukes type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2114	"" []	3185948	\N	\N	EFO	5	EFO	genetic disorder	Hip dysplasia, Beukes type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2114	"" []	5181928	\N	\N	EFO	7	EFO	disposition	Hip dysplasia, Beukes type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2114	"" []	4393396	\N	\N	EFO	6	EFO	disease	Hip dysplasia, Beukes type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2114	"" []	5997310	\N	\N	EFO	8	EFO	material property	Hip dysplasia, Beukes type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2114	"" []	6550775	\N	\N	EFO	9	EFO	experimental factor	Hip dysplasia, Beukes type
Orphanet:2115	\N	\N	"" []	Orphanet:2115	"" []	74525	\N	\N	EFO	0	EFO	Harrod syndrome	Harrod syndrome
Orphanet:102283	Orphanet:2115	\N	"" []	Orphanet:2115	"" []	216506	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Harrod syndrome
Orphanet:183763	Orphanet:2115	\N	"" []	Orphanet:2115	"" []	216507	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Harrod syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2115	"" []	570928	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Harrod syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2115	"" []	570929	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Harrod syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2115	"" []	1153008	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Harrod syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2115	"" []	1153009	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Harrod syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2115	"" []	2035522	\N	\N	EFO	4	EFO	genetic disorder	Harrod syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2115	"" []	2035523	\N	\N	EFO	4	EFO	genetic disorder	Harrod syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2115	"" []	3185949	\N	\N	EFO	5	EFO	disease	Harrod syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2115	"" []	4393398	\N	\N	EFO	6	EFO	disposition	Harrod syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2115	"" []	5411871	\N	\N	EFO	7	EFO	material property	Harrod syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2115	"" []	6149005	\N	\N	EFO	8	EFO	experimental factor	Harrod syndrome
Orphanet:2116	\N	\N	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	74526	\N	\N	EFO	0	EFO	Hartnup disease	Hartnup disease
Orphanet:183490	Orphanet:2116	\N	"" []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	216508	\N	\N	EFO	1	EFO	Genetic photodermatosis	Hartnup disease
Orphanet:308451	Orphanet:2116	\N	"" []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	216509	\N	\N	EFO	1	EFO	Disorder of neutral amino acid transport	Hartnup disease
Orphanet:68385	Orphanet:2116	\N	"" []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	216510	\N	\N	EFO	1	EFO	Neurometabolic disease	Hartnup disease
Orphanet:93593	Orphanet:2116	\N	"" []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	216511	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Hartnup disease
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	570930	\N	\N	EFO	2	EFO	Rare genetic skin disease	Hartnup disease
Orphanet:79166	Orphanet:308451	\N	"" []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	570931	\N	\N	EFO	2	EFO	Disorder of amino acid absorption and transport	Hartnup disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	570932	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hartnup disease
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	570933	\N	\N	EFO	2	EFO	Rare genetic renal disease	Hartnup disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	1153010	\N	\N	EFO	3	EFO	genetic disorder	Hartnup disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	1153011	\N	\N	EFO	3	EFO	skin disease	Hartnup disease
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	1153012	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Hartnup disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	1153013	\N	\N	EFO	3	EFO	genetic disorder	Hartnup disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	1153014	\N	\N	EFO	3	EFO	genetic disorder	Hartnup disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	4393400	\N	\N	EFO	6	EFO	disease	Hartnup disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	2035525	\N	\N	EFO	4	EFO	disease	Hartnup disease
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	2035526	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hartnup disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	5059740	\N	\N	EFO	7	EFO	disposition	Hartnup disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	3185951	\N	\N	EFO	5	EFO	genetic disorder	Hartnup disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	3185952	\N	\N	EFO	5	EFO	metabolic disease	Hartnup disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	5876947	\N	\N	EFO	8	EFO	material property	Hartnup disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	4393401	\N	\N	EFO	6	EFO	disease	Hartnup disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2116	"Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." []	6470154	\N	\N	EFO	9	EFO	experimental factor	Hartnup disease
Orphanet:2117	\N	\N	"" []	Orphanet:2117	"" []	74527	\N	\N	EFO	0	EFO	Hartsfield-Bixler-Demyer syndrome	Hartsfield-Bixler-Demyer syndrome
Orphanet:139039	Orphanet:2117	\N	"" []	Orphanet:2117	"" []	216512	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Hartsfield-Bixler-Demyer syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2117	"" []	570934	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Hartsfield-Bixler-Demyer syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2117	"" []	1153015	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Hartsfield-Bixler-Demyer syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2117	"" []	2035527	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Hartsfield-Bixler-Demyer syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2117	"" []	3185953	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hartsfield-Bixler-Demyer syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2117	"" []	4393402	\N	\N	EFO	6	EFO	genetic disorder	Hartsfield-Bixler-Demyer syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2117	"" []	5411873	\N	\N	EFO	7	EFO	disease	Hartsfield-Bixler-Demyer syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2117	"" []	6149006	\N	\N	EFO	8	EFO	disposition	Hartsfield-Bixler-Demyer syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2117	"" []	6632465	\N	\N	EFO	9	EFO	material property	Hartsfield-Bixler-Demyer syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2117	"" []	6925530	\N	\N	EFO	10	EFO	experimental factor	Hartsfield-Bixler-Demyer syndrome
Orphanet:2118	\N	\N	"" []	Orphanet:2118	"" []	74528	\N	\N	EFO	0	EFO	Hawkinsinuria	Hawkinsinuria
Orphanet:284818	Orphanet:2118	\N	"" []	Orphanet:2118	"" []	216513	\N	\N	EFO	1	EFO	Disorder of tyrosine metabolism	Hawkinsinuria
Orphanet:79190	Orphanet:284818	\N	"" []	Orphanet:2118	"" []	570935	\N	\N	EFO	2	EFO	Disorder of phenylalanin or tyrosine metabolism	Hawkinsinuria
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:2118	"" []	1153016	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Hawkinsinuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2118	"" []	2035528	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hawkinsinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2118	"" []	3185954	\N	\N	EFO	5	EFO	genetic disorder	Hawkinsinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2118	"" []	3185955	\N	\N	EFO	5	EFO	metabolic disease	Hawkinsinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2118	"" []	4393403	\N	\N	EFO	6	EFO	disease	Hawkinsinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2118	"" []	4393404	\N	\N	EFO	6	EFO	disease	Hawkinsinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2118	"" []	5411874	\N	\N	EFO	7	EFO	disposition	Hawkinsinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2118	"" []	6149007	\N	\N	EFO	8	EFO	material property	Hawkinsinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2118	"" []	6632466	\N	\N	EFO	9	EFO	experimental factor	Hawkinsinuria
Orphanet:212	\N	\N	"" []	Orphanet:212	"" []	74529	\N	\N	EFO	0	EFO	Cystathioninuria	Cystathioninuria
Orphanet:79173	Orphanet:212	\N	"" []	Orphanet:212	"" []	216514	\N	\N	EFO	1	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Cystathioninuria
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:212	"" []	570936	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Cystathioninuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:212	"" []	1153017	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Cystathioninuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:212	"" []	2035529	\N	\N	EFO	4	EFO	genetic disorder	Cystathioninuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:212	"" []	2035530	\N	\N	EFO	4	EFO	metabolic disease	Cystathioninuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:212	"" []	3185956	\N	\N	EFO	5	EFO	disease	Cystathioninuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:212	"" []	3185957	\N	\N	EFO	5	EFO	disease	Cystathioninuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:212	"" []	4393405	\N	\N	EFO	6	EFO	disposition	Cystathioninuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:212	"" []	5411875	\N	\N	EFO	7	EFO	material property	Cystathioninuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:212	"" []	6149008	\N	\N	EFO	8	EFO	experimental factor	Cystathioninuria
Orphanet:2124	\N	\N	"" []	Orphanet:2124	"" []	74530	\N	\N	EFO	0	EFO	Cavernous hemangiomas of face - supraumbilical midline raphe	Cavernous hemangiomas of face - supraumbilical midline raphe
Orphanet:139027	Orphanet:2124	\N	"" []	Orphanet:2124	"" []	216515	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Cavernous hemangiomas of face - supraumbilical midline raphe
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2124	"" []	570937	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Cavernous hemangiomas of face - supraumbilical midline raphe
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2124	"" []	1153018	\N	\N	EFO	3	EFO	genetic disorder	Cavernous hemangiomas of face - supraumbilical midline raphe
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2124	"" []	2035531	\N	\N	EFO	4	EFO	disease	Cavernous hemangiomas of face - supraumbilical midline raphe
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2124	"" []	3185958	\N	\N	EFO	5	EFO	disposition	Cavernous hemangiomas of face - supraumbilical midline raphe
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2124	"" []	4393406	\N	\N	EFO	6	EFO	material property	Cavernous hemangiomas of face - supraumbilical midline raphe
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2124	"" []	5411876	\N	\N	EFO	7	EFO	experimental factor	Cavernous hemangiomas of face - supraumbilical midline raphe
Orphanet:2128	\N	\N	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	74531	\N	\N	EFO	0	EFO	Hemihypertrophy	Hemihypertrophy
Orphanet:156207	Orphanet:2128	\N	"" []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	216516	\N	\N	EFO	1	EFO	Macroglossia	Hemihypertrophy
Orphanet:183422	Orphanet:2128	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	216517	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Hemihypertrophy
Orphanet:93460	Orphanet:2128	\N	"" []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	216518	\N	\N	EFO	1	EFO	Overgrowth syndrome	Hemihypertrophy
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	570938	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Hemihypertrophy
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	570939	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Hemihypertrophy
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	570940	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Hemihypertrophy
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	1153019	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hemihypertrophy
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	1153020	\N	\N	EFO	3	EFO	genetic disorder	Hemihypertrophy
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	1153021	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hemihypertrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	2035532	\N	\N	EFO	4	EFO	genetic disorder	Hemihypertrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	3185959	\N	\N	EFO	5	EFO	disease	Hemihypertrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	4133503	\N	\N	EFO	6	EFO	disposition	Hemihypertrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	5181929	\N	\N	EFO	7	EFO	material property	Hemihypertrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2128	"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors principally nephroblastoma (see this term) and hepoblastoma." []	5997311	\N	\N	EFO	8	EFO	experimental factor	Hemihypertrophy
Orphanet:213	\N	\N	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	74532	\N	\N	EFO	0	EFO	Cystinosis	Cystinosis
Orphanet:79207	Orphanet:213	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	216519	\N	\N	EFO	1	EFO	Disorder of lysosomal amino acid transport	Cystinosis
Orphanet:93593	Orphanet:213	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	216520	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Cystinosis
Orphanet:98666	Orphanet:213	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	216521	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Cystinosis
Orphanet:98711	Orphanet:213	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	216522	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Cystinosis
Orphanet:98713	Orphanet:213	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	216523	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Cystinosis
Orphanet:68366	Orphanet:79207	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	570941	\N	\N	EFO	2	EFO	Lysosomal disease	Cystinosis
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	570942	\N	\N	EFO	2	EFO	Rare genetic renal disease	Cystinosis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	570943	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Cystinosis
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	570944	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Cystinosis
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	570945	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Cystinosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	1153022	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Cystinosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	1153023	\N	\N	EFO	3	EFO	genetic disorder	Cystinosis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	1153024	\N	\N	EFO	3	EFO	Retinal dystrophy	Cystinosis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	1153025	\N	\N	EFO	3	EFO	Rare genetic eye disease	Cystinosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	2035534	\N	\N	EFO	4	EFO	genetic disorder	Cystinosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	2035535	\N	\N	EFO	4	EFO	metabolic disease	Cystinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	5059741	\N	\N	EFO	7	EFO	disease	Cystinosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	2035537	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Cystinosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	4393409	\N	\N	EFO	6	EFO	genetic disorder	Cystinosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	4393410	\N	\N	EFO	6	EFO	eye disease	Cystinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	3185962	\N	\N	EFO	5	EFO	disease	Cystinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	5817548	\N	\N	EFO	8	EFO	disposition	Cystinosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	3185964	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cystinosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	5059742	\N	\N	EFO	7	EFO	disease	Cystinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	6409931	\N	\N	EFO	9	EFO	material property	Cystinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:213	"Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." []	6807774	\N	\N	EFO	10	EFO	experimental factor	Cystinosis
Orphanet:2130	\N	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	74533	\N	\N	EFO	0	EFO	Hemimelia	Hemimelia
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	216524	\N	\N	EFO	1	EFO	Non-syndromic limb reduction defect	Hemimelia
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	570946	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Hemimelia
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	570947	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Hemimelia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	1153026	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Hemimelia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	1153027	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Hemimelia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	2035540	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hemimelia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	2035541	\N	\N	EFO	4	EFO	Rare genetic bone disease	Hemimelia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	2035542	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Hemimelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	4393413	\N	\N	EFO	6	EFO	genetic disorder	Hemimelia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	3185967	\N	\N	EFO	5	EFO	genetic disorder	Hemimelia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	3185968	\N	\N	EFO	5	EFO	bone disease	Hemimelia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	3185969	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hemimelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	5181931	\N	\N	EFO	7	EFO	disease	Hemimelia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	4393412	\N	\N	EFO	6	EFO	skeletal system disease	Hemimelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	5997313	\N	\N	EFO	8	EFO	disposition	Hemimelia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	5411880	\N	\N	EFO	7	EFO	disease	Hemimelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	6550776	\N	\N	EFO	9	EFO	material property	Hemimelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2130	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	6889114	\N	\N	EFO	10	EFO	experimental factor	Hemimelia
Orphanet:2131	\N	\N	"Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." []	Orphanet:2131	"Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." []	74534	\N	\N	EFO	0	EFO	Alternating hemiplegia of childhood	Alternating hemiplegia of childhood
Orphanet:209978	Orphanet:2131	\N	"" []	Orphanet:2131	"Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." []	216525	\N	\N	EFO	1	EFO	Alternating hemiplegia	Alternating hemiplegia of childhood
Orphanet:71859	Orphanet:209978	\N	"" []	Orphanet:2131	"Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." []	570948	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Alternating hemiplegia of childhood
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2131	"Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." []	1153028	\N	\N	EFO	3	EFO	genetic disorder	Alternating hemiplegia of childhood
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2131	"Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." []	2035543	\N	\N	EFO	4	EFO	disease	Alternating hemiplegia of childhood
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2131	"Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." []	3185970	\N	\N	EFO	5	EFO	disposition	Alternating hemiplegia of childhood
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2131	"Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." []	4393414	\N	\N	EFO	6	EFO	material property	Alternating hemiplegia of childhood
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2131	"Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." []	5411881	\N	\N	EFO	7	EFO	experimental factor	Alternating hemiplegia of childhood
Orphanet:2132	\N	\N	"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." []	Orphanet:2132	"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." []	74535	\N	\N	EFO	0	EFO	Hemoglobin C disease	Hemoglobin C disease
Orphanet:68364	Orphanet:2132	\N	"" []	Orphanet:2132	"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." []	216526	\N	\N	EFO	1	EFO	Hemoglobinopathy	Hemoglobin C disease
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:2132	"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." []	570949	\N	\N	EFO	2	EFO	Rare constitutional anemia	Hemoglobin C disease
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:2132	"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." []	1153029	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Hemoglobin C disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2132	"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." []	2035544	\N	\N	EFO	4	EFO	genetic disorder	Hemoglobin C disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:2132	"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." []	2035545	\N	\N	EFO	4	EFO	hematological system disease	Hemoglobin C disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2132	"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." []	3185971	\N	\N	EFO	5	EFO	disease	Hemoglobin C disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2132	"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." []	3185972	\N	\N	EFO	5	EFO	disease	Hemoglobin C disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2132	"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." []	4393415	\N	\N	EFO	6	EFO	disposition	Hemoglobin C disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2132	"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." []	5411882	\N	\N	EFO	7	EFO	material property	Hemoglobin C disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2132	"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." []	6149010	\N	\N	EFO	8	EFO	experimental factor	Hemoglobin C disease
Orphanet:2133	\N	\N	"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." []	Orphanet:2133	"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." []	74536	\N	\N	EFO	0	EFO	Hemoglobin E disease	Hemoglobin E disease
Orphanet:68364	Orphanet:2133	\N	"" []	Orphanet:2133	"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." []	216527	\N	\N	EFO	1	EFO	Hemoglobinopathy	Hemoglobin E disease
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:2133	"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." []	570950	\N	\N	EFO	2	EFO	Rare constitutional anemia	Hemoglobin E disease
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:2133	"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." []	1153030	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Hemoglobin E disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2133	"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." []	2035546	\N	\N	EFO	4	EFO	genetic disorder	Hemoglobin E disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:2133	"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." []	2035547	\N	\N	EFO	4	EFO	hematological system disease	Hemoglobin E disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2133	"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." []	3185973	\N	\N	EFO	5	EFO	disease	Hemoglobin E disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2133	"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." []	3185974	\N	\N	EFO	5	EFO	disease	Hemoglobin E disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2133	"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." []	4393416	\N	\N	EFO	6	EFO	disposition	Hemoglobin E disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2133	"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." []	5411883	\N	\N	EFO	7	EFO	material property	Hemoglobin E disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2133	"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." []	6149011	\N	\N	EFO	8	EFO	experimental factor	Hemoglobin E disease
Orphanet:2134	\N	\N	"" []	Orphanet:2134	"" []	74537	\N	\N	EFO	0	EFO	Atypical hemolytic-uremic syndrome	Atypical hemolytic-uremic syndrome
Orphanet:182043	Orphanet:2134	\N	"" []	Orphanet:2134	"" []	216528	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia	Atypical hemolytic-uremic syndrome
Orphanet:183589	Orphanet:2134	\N	"" []	Orphanet:2134	"" []	216529	\N	\N	EFO	1	EFO	Genetic thrombotic microangiopathy	Atypical hemolytic-uremic syndrome
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:2134	"" []	570951	\N	\N	EFO	2	EFO	Rare constitutional anemia	Atypical hemolytic-uremic syndrome
Orphanet:98056	Orphanet:183589	\N	"" []	Orphanet:2134	"" []	570952	\N	\N	EFO	2	EFO	Rare genetic renal disease	Atypical hemolytic-uremic syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:2134	"" []	1153031	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Atypical hemolytic-uremic syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2134	"" []	1153032	\N	\N	EFO	3	EFO	genetic disorder	Atypical hemolytic-uremic syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2134	"" []	2035548	\N	\N	EFO	4	EFO	genetic disorder	Atypical hemolytic-uremic syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:2134	"" []	2035549	\N	\N	EFO	4	EFO	hematological system disease	Atypical hemolytic-uremic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2134	"" []	3185975	\N	\N	EFO	5	EFO	disease	Atypical hemolytic-uremic syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2134	"" []	3185976	\N	\N	EFO	5	EFO	disease	Atypical hemolytic-uremic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2134	"" []	4133505	\N	\N	EFO	6	EFO	disposition	Atypical hemolytic-uremic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2134	"" []	5181932	\N	\N	EFO	7	EFO	material property	Atypical hemolytic-uremic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2134	"" []	5997314	\N	\N	EFO	8	EFO	experimental factor	Atypical hemolytic-uremic syndrome
Orphanet:2135	\N	\N	"" []	Orphanet:2135	"" []	74538	\N	\N	EFO	0	EFO	Hennekam-Beemer syndrome	Hennekam-Beemer syndrome
Orphanet:330197	Orphanet:2135	\N	"" []	Orphanet:2135	"" []	216530	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Hennekam-Beemer syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2135	"" []	570953	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hennekam-Beemer syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2135	"" []	1153033	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hennekam-Beemer syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2135	"" []	2035551	\N	\N	EFO	4	EFO	genetic disorder	Hennekam-Beemer syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2135	"" []	3185978	\N	\N	EFO	5	EFO	disease	Hennekam-Beemer syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2135	"" []	4393418	\N	\N	EFO	6	EFO	disposition	Hennekam-Beemer syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2135	"" []	5411885	\N	\N	EFO	7	EFO	material property	Hennekam-Beemer syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2135	"" []	6149012	\N	\N	EFO	8	EFO	experimental factor	Hennekam-Beemer syndrome
Orphanet:213517	\N	\N	"" []	Orphanet:213517	"" []	74539	\N	\N	EFO	0	EFO	Familial ovarian cancer	Familial ovarian cancer
EFO:0001075	Orphanet:213517	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	Orphanet:213517	"" []	216531	\N	\N	EFO	1	EFO	ovarian carcinoma	Familial ovarian cancer
Orphanet:183734	Orphanet:213517	\N	"" []	Orphanet:213517	"" []	216532	\N	\N	EFO	1	EFO	Genetic gynecological tumor	Familial ovarian cancer
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	Orphanet:213517	"" []	570954	\N	\N	EFO	2	EFO	carcinoma	Familial ovarian cancer
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	Orphanet:213517	"" []	570955	\N	\N	EFO	2	EFO	ovarian neoplasm	Familial ovarian cancer
EFO:0000512	Orphanet:183734	\N	"any diease of the reproductive system" []	Orphanet:213517	"" []	570956	\N	\N	EFO	2	EFO	reproductive system disease	Familial ovarian cancer
EFO:0003863	Orphanet:183734	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:213517	"" []	570957	\N	\N	EFO	2	EFO	urogenital neoplasm	Familial ovarian cancer
Orphanet:68336	Orphanet:183734	\N	"" []	Orphanet:213517	"" []	570958	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial ovarian cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	Orphanet:213517	"" []	1153034	\N	\N	EFO	3	EFO	cancer	Familial ovarian cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	Orphanet:213517	"" []	1153035	\N	\N	EFO	3	EFO	epithelial neoplasm	Familial ovarian cancer
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:213517	"" []	1153036	\N	\N	EFO	3	EFO	urogenital neoplasm	Familial ovarian cancer
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:213517	"" []	1153037	\N	\N	EFO	3	EFO	ovarian disease	Familial ovarian cancer
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:213517	"" []	3185979	\N	\N	EFO	5	EFO	disease	Familial ovarian cancer
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:213517	"" []	2035554	\N	\N	EFO	4	EFO	neoplasm	Familial ovarian cancer
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:213517	"" []	1153040	\N	\N	EFO	3	EFO	genetic disorder	Familial ovarian cancer
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:213517	"" []	1153041	\N	\N	EFO	3	EFO	neoplasm	Familial ovarian cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:213517	"" []	2035552	\N	\N	EFO	4	EFO	neoplasm	Familial ovarian cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:213517	"" []	2035553	\N	\N	EFO	4	EFO	neoplasm	Familial ovarian cancer
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:213517	"" []	2035555	\N	\N	EFO	4	EFO	reproductive system disease	Familial ovarian cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:213517	"" []	4066877	\N	\N	EFO	6	EFO	disposition	Familial ovarian cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:213517	"" []	3000202	\N	\N	EFO	5	EFO	disease	Familial ovarian cancer
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:213517	"" []	2035558	\N	\N	EFO	4	EFO	disease	Familial ovarian cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:213517	"" []	5059743	\N	\N	EFO	7	EFO	material property	Familial ovarian cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:213517	"" []	5876948	\N	\N	EFO	8	EFO	experimental factor	Familial ovarian cancer
Orphanet:213524	\N	\N	"" []	Orphanet:213524	"" []	74540	\N	\N	EFO	0	EFO	Hereditary site-specific ovarian cancer syndrome	Hereditary site-specific ovarian cancer syndrome
Orphanet:183731	Orphanet:213524	\N	"" []	Orphanet:213524	"" []	216533	\N	\N	EFO	1	EFO	Rare genetic gynecological and obstetrical diseases	Hereditary site-specific ovarian cancer syndrome
Orphanet:213517	Orphanet:213524	\N	"" []	Orphanet:213524	"" []	216534	\N	\N	EFO	1	EFO	Familial ovarian cancer	Hereditary site-specific ovarian cancer syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:213524	"" []	570959	\N	\N	EFO	2	EFO	genetic disorder	Hereditary site-specific ovarian cancer syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:213524	"" []	570960	\N	\N	EFO	2	EFO	reproductive system disease	Hereditary site-specific ovarian cancer syndrome
EFO:0001075	Orphanet:213517	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	Orphanet:213524	"" []	570961	\N	\N	EFO	2	EFO	ovarian carcinoma	Hereditary site-specific ovarian cancer syndrome
Orphanet:183734	Orphanet:213517	\N	"" []	Orphanet:213524	"" []	570962	\N	\N	EFO	2	EFO	Genetic gynecological tumor	Hereditary site-specific ovarian cancer syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:213524	"" []	3185988	\N	\N	EFO	5	EFO	disease	Hereditary site-specific ovarian cancer syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:213524	"" []	4393421	\N	\N	EFO	6	EFO	disease	Hereditary site-specific ovarian cancer syndrome
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	Orphanet:213524	"" []	1153044	\N	\N	EFO	3	EFO	carcinoma	Hereditary site-specific ovarian cancer syndrome
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	Orphanet:213524	"" []	1153045	\N	\N	EFO	3	EFO	ovarian neoplasm	Hereditary site-specific ovarian cancer syndrome
EFO:0000512	Orphanet:183734	\N	"any diease of the reproductive system" []	Orphanet:213524	"" []	1153046	\N	\N	EFO	3	EFO	reproductive system disease	Hereditary site-specific ovarian cancer syndrome
EFO:0003863	Orphanet:183734	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:213524	"" []	1153047	\N	\N	EFO	3	EFO	urogenital neoplasm	Hereditary site-specific ovarian cancer syndrome
Orphanet:68336	Orphanet:183734	\N	"" []	Orphanet:213524	"" []	1153048	\N	\N	EFO	3	EFO	Rare genetic tumor	Hereditary site-specific ovarian cancer syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:213524	"" []	5028413	\N	\N	EFO	7	EFO	disposition	Hereditary site-specific ovarian cancer syndrome
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	Orphanet:213524	"" []	2035560	\N	\N	EFO	4	EFO	cancer	Hereditary site-specific ovarian cancer syndrome
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	Orphanet:213524	"" []	2035561	\N	\N	EFO	4	EFO	epithelial neoplasm	Hereditary site-specific ovarian cancer syndrome
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:213524	"" []	2035562	\N	\N	EFO	4	EFO	urogenital neoplasm	Hereditary site-specific ovarian cancer syndrome
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:213524	"" []	2035563	\N	\N	EFO	4	EFO	ovarian disease	Hereditary site-specific ovarian cancer syndrome
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:213524	"" []	3185985	\N	\N	EFO	5	EFO	neoplasm	Hereditary site-specific ovarian cancer syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:213524	"" []	2035566	\N	\N	EFO	4	EFO	genetic disorder	Hereditary site-specific ovarian cancer syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:213524	"" []	2035567	\N	\N	EFO	4	EFO	neoplasm	Hereditary site-specific ovarian cancer syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:213524	"" []	5817549	\N	\N	EFO	8	EFO	material property	Hereditary site-specific ovarian cancer syndrome
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:213524	"" []	3185983	\N	\N	EFO	5	EFO	neoplasm	Hereditary site-specific ovarian cancer syndrome
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:213524	"" []	3185984	\N	\N	EFO	5	EFO	neoplasm	Hereditary site-specific ovarian cancer syndrome
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:213524	"" []	3185986	\N	\N	EFO	5	EFO	reproductive system disease	Hereditary site-specific ovarian cancer syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:213524	"" []	4133508	\N	\N	EFO	6	EFO	disease	Hereditary site-specific ovarian cancer syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:213524	"" []	6409932	\N	\N	EFO	9	EFO	experimental factor	Hereditary site-specific ovarian cancer syndrome
Orphanet:2136	\N	\N	"" []	Orphanet:2136	"" []	74541	\N	\N	EFO	0	EFO	Hennekam syndrome	Hennekam syndrome
Orphanet:102283	Orphanet:2136	\N	"" []	Orphanet:2136	"" []	216535	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Hennekam syndrome
Orphanet:183763	Orphanet:2136	\N	"" []	Orphanet:2136	"" []	216536	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hennekam syndrome
Orphanet:89832	Orphanet:2136	\N	"" []	Orphanet:2136	"" []	216537	\N	\N	EFO	1	EFO	Syndromic lymphedema	Hennekam syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2136	"" []	570963	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hennekam syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2136	"" []	570964	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hennekam syndrome
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:2136	"" []	570965	\N	\N	EFO	2	EFO	Lymphedema	Hennekam syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2136	"" []	1153049	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hennekam syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2136	"" []	1153050	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hennekam syndrome
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:2136	"" []	1153051	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hennekam syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2136	"" []	2035568	\N	\N	EFO	4	EFO	genetic disorder	Hennekam syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2136	"" []	2035569	\N	\N	EFO	4	EFO	genetic disorder	Hennekam syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2136	"" []	2035570	\N	\N	EFO	4	EFO	genetic disorder	Hennekam syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2136	"" []	2035571	\N	\N	EFO	4	EFO	skin disease	Hennekam syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2136	"" []	3185989	\N	\N	EFO	5	EFO	disease	Hennekam syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2136	"" []	3185990	\N	\N	EFO	5	EFO	disease	Hennekam syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2136	"" []	4393422	\N	\N	EFO	6	EFO	disposition	Hennekam syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2136	"" []	5411886	\N	\N	EFO	7	EFO	material property	Hennekam syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2136	"" []	6149013	\N	\N	EFO	8	EFO	experimental factor	Hennekam syndrome
Orphanet:2138	\N	\N	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	74542	\N	\N	EFO	0	EFO	46,XX ovotesticular disorder of sex development	46,XX ovotesticular disorder of sex development
Orphanet:325055	Orphanet:2138	\N	"" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	216538	\N	\N	EFO	1	EFO	46,XX disorder of gonadal development	46,XX ovotesticular disorder of sex development
Orphanet:399877	Orphanet:2138	\N	"" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	216539	\N	\N	EFO	1	EFO	Female infertility due to gonadal dysgenesis	46,XX ovotesticular disorder of sex development
Orphanet:98074	Orphanet:2138	\N	"" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	216540	\N	\N	EFO	1	EFO	Gonadal dysgenesis of gynecological interest	46,XX ovotesticular disorder of sex development
Orphanet:325697	Orphanet:325055	\N	"" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	570966	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	46,XX ovotesticular disorder of sex development
Orphanet:400008	Orphanet:399877	\N	"" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	570967	\N	\N	EFO	2	EFO	Rare genetic female infertility	46,XX ovotesticular disorder of sex development
Orphanet:325665	Orphanet:98074	\N	"" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	570968	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	46,XX ovotesticular disorder of sex development
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	1153052	\N	\N	EFO	3	EFO	Genetic disorder of sex development	46,XX ovotesticular disorder of sex development
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	1153053	\N	\N	EFO	3	EFO	Genetic infertility	46,XX ovotesticular disorder of sex development
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	1153054	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	46,XX ovotesticular disorder of sex development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	2035572	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	46,XX ovotesticular disorder of sex development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	2035573	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	46,XX ovotesticular disorder of sex development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	2035574	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	46,XX ovotesticular disorder of sex development
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	2035575	\N	\N	EFO	4	EFO	genetic disorder	46,XX ovotesticular disorder of sex development
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	2035576	\N	\N	EFO	4	EFO	reproductive system disease	46,XX ovotesticular disorder of sex development
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	2035577	\N	\N	EFO	4	EFO	genetic disorder	46,XX ovotesticular disorder of sex development
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	2035578	\N	\N	EFO	4	EFO	reproductive system disease	46,XX ovotesticular disorder of sex development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	3185991	\N	\N	EFO	5	EFO	genetic disorder	46,XX ovotesticular disorder of sex development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	3185992	\N	\N	EFO	5	EFO	genetic disorder	46,XX ovotesticular disorder of sex development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	3185993	\N	\N	EFO	5	EFO	endocrine system disease	46,XX ovotesticular disorder of sex development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	3185994	\N	\N	EFO	5	EFO	genetic disorder	46,XX ovotesticular disorder of sex development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	4393423	\N	\N	EFO	6	EFO	disease	46,XX ovotesticular disorder of sex development
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	3185996	\N	\N	EFO	5	EFO	disease	46,XX ovotesticular disorder of sex development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	4393424	\N	\N	EFO	6	EFO	disease	46,XX ovotesticular disorder of sex development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	5181935	\N	\N	EFO	7	EFO	disposition	46,XX ovotesticular disorder of sex development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	5997315	\N	\N	EFO	8	EFO	material property	46,XX ovotesticular disorder of sex development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2138	"46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." []	6550777	\N	\N	EFO	9	EFO	experimental factor	46,XX ovotesticular disorder of sex development
Orphanet:2139	\N	\N	"" []	Orphanet:2139	"" []	74543	\N	\N	EFO	0	EFO	Hernndez-Aguirre Negrete syndrome	Hernndez-Aguirre Negrete syndrome
Orphanet:102283	Orphanet:2139	\N	"" []	Orphanet:2139	"" []	216541	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Hernndez-Aguirre Negrete syndrome
Orphanet:183763	Orphanet:2139	\N	"" []	Orphanet:2139	"" []	216542	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hernndez-Aguirre Negrete syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2139	"" []	570969	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hernndez-Aguirre Negrete syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2139	"" []	570970	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hernndez-Aguirre Negrete syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2139	"" []	1153055	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hernndez-Aguirre Negrete syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2139	"" []	1153056	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hernndez-Aguirre Negrete syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2139	"" []	2035579	\N	\N	EFO	4	EFO	genetic disorder	Hernndez-Aguirre Negrete syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2139	"" []	2035580	\N	\N	EFO	4	EFO	genetic disorder	Hernndez-Aguirre Negrete syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2139	"" []	3185997	\N	\N	EFO	5	EFO	disease	Hernndez-Aguirre Negrete syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2139	"" []	4393426	\N	\N	EFO	6	EFO	disposition	Hernndez-Aguirre Negrete syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2139	"" []	5411888	\N	\N	EFO	7	EFO	material property	Hernndez-Aguirre Negrete syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2139	"" []	6149015	\N	\N	EFO	8	EFO	experimental factor	Hernndez-Aguirre Negrete syndrome
Orphanet:214	\N	\N	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	74544	\N	\N	EFO	0	EFO	Cystinuria	Cystinuria
Orphanet:183592	Orphanet:214	\N	"" []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	216543	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Cystinuria
Orphanet:79166	Orphanet:214	\N	"" []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	216544	\N	\N	EFO	1	EFO	Disorder of amino acid absorption and transport	Cystinuria
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	570971	\N	\N	EFO	2	EFO	Rare genetic renal disease	Cystinuria
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	570972	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Cystinuria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	1153057	\N	\N	EFO	3	EFO	genetic disorder	Cystinuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	1153058	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Cystinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	3185999	\N	\N	EFO	5	EFO	disease	Cystinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	2035582	\N	\N	EFO	4	EFO	genetic disorder	Cystinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	2035583	\N	\N	EFO	4	EFO	metabolic disease	Cystinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	4133509	\N	\N	EFO	6	EFO	disposition	Cystinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	3186000	\N	\N	EFO	5	EFO	disease	Cystinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	5181936	\N	\N	EFO	7	EFO	material property	Cystinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:214	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	5997316	\N	\N	EFO	8	EFO	experimental factor	Cystinuria
Orphanet:2141	\N	\N	"" []	Orphanet:2141	"" []	74545	\N	\N	EFO	0	EFO	Diaphragmatic defect - limb deficiency - skull defect	Diaphragmatic defect - limb deficiency - skull defect
Orphanet:330206	Orphanet:2141	\N	"" []	Orphanet:2141	"" []	216545	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Diaphragmatic defect - limb deficiency - skull defect
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2141	"" []	570973	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Diaphragmatic defect - limb deficiency - skull defect
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2141	"" []	1153059	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Diaphragmatic defect - limb deficiency - skull defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2141	"" []	2035584	\N	\N	EFO	4	EFO	genetic disorder	Diaphragmatic defect - limb deficiency - skull defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2141	"" []	3186001	\N	\N	EFO	5	EFO	disease	Diaphragmatic defect - limb deficiency - skull defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2141	"" []	4393428	\N	\N	EFO	6	EFO	disposition	Diaphragmatic defect - limb deficiency - skull defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2141	"" []	5411890	\N	\N	EFO	7	EFO	material property	Diaphragmatic defect - limb deficiency - skull defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2141	"" []	6149016	\N	\N	EFO	8	EFO	experimental factor	Diaphragmatic defect - limb deficiency - skull defect
Orphanet:2143	\N	\N	"Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms)." []	Orphanet:2143	"Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms)." []	74546	\N	\N	EFO	0	EFO	Donnai-Barrow syndrome	Donnai-Barrow syndrome
Orphanet:330197	Orphanet:2143	\N	"" []	Orphanet:2143	"Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms)." []	216546	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Donnai-Barrow syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2143	"Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms)." []	570974	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Donnai-Barrow syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2143	"Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms)." []	1153060	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Donnai-Barrow syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2143	"Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms)." []	2035585	\N	\N	EFO	4	EFO	genetic disorder	Donnai-Barrow syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2143	"Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms)." []	3186002	\N	\N	EFO	5	EFO	disease	Donnai-Barrow syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2143	"Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms)." []	4393429	\N	\N	EFO	6	EFO	disposition	Donnai-Barrow syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2143	"Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms)." []	5411891	\N	\N	EFO	7	EFO	material property	Donnai-Barrow syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2143	"Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms)." []	6149017	\N	\N	EFO	8	EFO	experimental factor	Donnai-Barrow syndrome
Orphanet:2145	\N	\N	"" []	Orphanet:2145	"" []	74547	\N	\N	EFO	0	EFO	Craniosynostosis, Herrmann-Opitz type	Craniosynostosis, Herrmann-Opitz type
Orphanet:139393	Orphanet:2145	\N	"" []	Orphanet:2145	"" []	216547	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniosynostosis, Herrmann-Opitz type
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:2145	"" []	570975	\N	\N	EFO	2	EFO	Craniosynostosis	Craniosynostosis, Herrmann-Opitz type
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:2145	"" []	1153061	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniosynostosis, Herrmann-Opitz type
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:2145	"" []	1153062	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniosynostosis, Herrmann-Opitz type
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:2145	"" []	2035586	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis, Herrmann-Opitz type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2145	"" []	2035587	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniosynostosis, Herrmann-Opitz type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2145	"" []	2035588	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniosynostosis, Herrmann-Opitz type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2145	"" []	4393432	\N	\N	EFO	6	EFO	genetic disorder	Craniosynostosis, Herrmann-Opitz type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2145	"" []	3186004	\N	\N	EFO	5	EFO	genetic disorder	Craniosynostosis, Herrmann-Opitz type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2145	"" []	3186005	\N	\N	EFO	5	EFO	bone disease	Craniosynostosis, Herrmann-Opitz type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2145	"" []	3186006	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis, Herrmann-Opitz type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2145	"" []	5181937	\N	\N	EFO	7	EFO	disease	Craniosynostosis, Herrmann-Opitz type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2145	"" []	4393431	\N	\N	EFO	6	EFO	skeletal system disease	Craniosynostosis, Herrmann-Opitz type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2145	"" []	5997317	\N	\N	EFO	8	EFO	disposition	Craniosynostosis, Herrmann-Opitz type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2145	"" []	5411893	\N	\N	EFO	7	EFO	disease	Craniosynostosis, Herrmann-Opitz type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2145	"" []	6550778	\N	\N	EFO	9	EFO	material property	Craniosynostosis, Herrmann-Opitz type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2145	"" []	6889115	\N	\N	EFO	10	EFO	experimental factor	Craniosynostosis, Herrmann-Opitz type
Orphanet:2148	\N	\N	"" []	Orphanet:2148	"" []	74548	\N	\N	EFO	0	EFO	Lissencephaly type 1 due to doublecortin gene mutation	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:102009	Orphanet:2148	\N	"" []	Orphanet:2148	"" []	216548	\N	\N	EFO	1	EFO	Classic lissencephaly	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:98464	Orphanet:2148	\N	"" []	Orphanet:2148	"" []	216549	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:48471	Orphanet:102009	\N	"" []	Orphanet:2148	"" []	570976	\N	\N	EFO	2	EFO	Lissencephaly	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2148	"" []	570977	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:2148	"" []	1153063	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:2148	"" []	1153064	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:2148	"" []	1153065	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2148	"" []	2035590	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:2148	"" []	2035589	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2148	"" []	2035591	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2148	"" []	3000204	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2148	"" []	3186007	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2148	"" []	3186008	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2148	"" []	3186009	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly type 1 due to doublecortin gene mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2148	"" []	4133510	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly type 1 due to doublecortin gene mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2148	"" []	4393433	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly type 1 due to doublecortin gene mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2148	"" []	5181938	\N	\N	EFO	7	EFO	disease	Lissencephaly type 1 due to doublecortin gene mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2148	"" []	5997318	\N	\N	EFO	8	EFO	disposition	Lissencephaly type 1 due to doublecortin gene mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2148	"" []	6550779	\N	\N	EFO	9	EFO	material property	Lissencephaly type 1 due to doublecortin gene mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2148	"" []	6889116	\N	\N	EFO	10	EFO	experimental factor	Lissencephaly type 1 due to doublecortin gene mutation
Orphanet:2149	\N	\N	"" []	Orphanet:2149	"" []	74549	\N	\N	EFO	0	EFO	Nodular neuronal heterotopia	Nodular neuronal heterotopia
Orphanet:163209	Orphanet:2149	\N	"" []	Orphanet:2149	"" []	216550	\N	\N	EFO	1	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Nodular neuronal heterotopia
Orphanet:183763	Orphanet:2149	\N	"" []	Orphanet:2149	"" []	216551	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Nodular neuronal heterotopia
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:2149	"" []	570978	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Nodular neuronal heterotopia
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:2149	"" []	570979	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Nodular neuronal heterotopia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2149	"" []	570980	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Nodular neuronal heterotopia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:2149	"" []	1153067	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Nodular neuronal heterotopia
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:2149	"" []	1153068	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Nodular neuronal heterotopia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2149	"" []	1153069	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Nodular neuronal heterotopia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2149	"" []	2035593	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Nodular neuronal heterotopia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2149	"" []	2035594	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Nodular neuronal heterotopia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2149	"" []	4393436	\N	\N	EFO	6	EFO	genetic disorder	Nodular neuronal heterotopia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2149	"" []	3186012	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Nodular neuronal heterotopia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2149	"" []	3186013	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Nodular neuronal heterotopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2149	"" []	5059745	\N	\N	EFO	7	EFO	disease	Nodular neuronal heterotopia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2149	"" []	4393435	\N	\N	EFO	6	EFO	genetic disorder	Nodular neuronal heterotopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2149	"" []	5876950	\N	\N	EFO	8	EFO	disposition	Nodular neuronal heterotopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2149	"" []	6470155	\N	\N	EFO	9	EFO	material property	Nodular neuronal heterotopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2149	"" []	6848385	\N	\N	EFO	10	EFO	experimental factor	Nodular neuronal heterotopia
Orphanet:215	\N	\N	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	Orphanet:215	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	74550	\N	\N	EFO	0	EFO	Congenital stationary night blindness	Congenital stationary night blindness
Orphanet:98662	Orphanet:215	\N	"" []	Orphanet:215	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	216552	\N	\N	EFO	1	EFO	Unclassified familial retinal dystrophy	Congenital stationary night blindness
Orphanet:71862	Orphanet:98662	\N	"" []	Orphanet:215	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	570981	\N	\N	EFO	2	EFO	Retinal dystrophy	Congenital stationary night blindness
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:215	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	1153070	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Congenital stationary night blindness
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:215	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	2035596	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital stationary night blindness
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:215	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	3186015	\N	\N	EFO	5	EFO	genetic disorder	Congenital stationary night blindness
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:215	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	3186016	\N	\N	EFO	5	EFO	eye disease	Congenital stationary night blindness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:215	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	4393438	\N	\N	EFO	6	EFO	disease	Congenital stationary night blindness
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:215	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	4393439	\N	\N	EFO	6	EFO	disease	Congenital stationary night blindness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:215	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	5411896	\N	\N	EFO	7	EFO	disposition	Congenital stationary night blindness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:215	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	6149021	\N	\N	EFO	8	EFO	material property	Congenital stationary night blindness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:215	"#8805;-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively)." []	6632470	\N	\N	EFO	9	EFO	experimental factor	Congenital stationary night blindness
Orphanet:2150	\N	\N	"" []	Orphanet:2150	"" []	74551	\N	\N	EFO	0	EFO	Hirschsprung disease - type D brachydactyly	Hirschsprung disease - type D brachydactyly
Orphanet:108969	Orphanet:2150	\N	"" []	Orphanet:2150	"" []	216553	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Hirschsprung disease - type D brachydactyly
Orphanet:117573	Orphanet:2150	\N	"" []	Orphanet:2150	"" []	216554	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Hirschsprung disease - type D brachydactyly
Orphanet:330206	Orphanet:2150	\N	"" []	Orphanet:2150	"" []	216555	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Hirschsprung disease - type D brachydactyly
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:2150	"" []	570982	\N	\N	EFO	2	EFO	Intestinal malformation	Hirschsprung disease - type D brachydactyly
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:2150	"" []	570983	\N	\N	EFO	2	EFO	Anorectal malformation	Hirschsprung disease - type D brachydactyly
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2150	"" []	570984	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hirschsprung disease - type D brachydactyly
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:2150	"" []	1153071	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Hirschsprung disease - type D brachydactyly
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:2150	"" []	1153072	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Hirschsprung disease - type D brachydactyly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2150	"" []	1153073	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hirschsprung disease - type D brachydactyly
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2150	"" []	2035597	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hirschsprung disease - type D brachydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2150	"" []	3186017	\N	\N	EFO	5	EFO	genetic disorder	Hirschsprung disease - type D brachydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2150	"" []	4133512	\N	\N	EFO	6	EFO	disease	Hirschsprung disease - type D brachydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2150	"" []	5181940	\N	\N	EFO	7	EFO	disposition	Hirschsprung disease - type D brachydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2150	"" []	5997320	\N	\N	EFO	8	EFO	material property	Hirschsprung disease - type D brachydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2150	"" []	6550781	\N	\N	EFO	9	EFO	experimental factor	Hirschsprung disease - type D brachydactyly
Orphanet:2151	\N	\N	"" []	Orphanet:2151	"" []	74552	\N	\N	EFO	0	EFO	Hirschsprung disease - ganglioneuroblastoma	Hirschsprung disease - ganglioneuroblastoma
Orphanet:108969	Orphanet:2151	\N	"" []	Orphanet:2151	"" []	216556	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Hirschsprung disease - ganglioneuroblastoma
Orphanet:117573	Orphanet:2151	\N	"" []	Orphanet:2151	"" []	216557	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Hirschsprung disease - ganglioneuroblastoma
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:2151	"" []	570985	\N	\N	EFO	2	EFO	Intestinal malformation	Hirschsprung disease - ganglioneuroblastoma
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:2151	"" []	570986	\N	\N	EFO	2	EFO	Anorectal malformation	Hirschsprung disease - ganglioneuroblastoma
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:2151	"" []	1153074	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Hirschsprung disease - ganglioneuroblastoma
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:2151	"" []	1153075	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Hirschsprung disease - ganglioneuroblastoma
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2151	"" []	2035599	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hirschsprung disease - ganglioneuroblastoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2151	"" []	3186019	\N	\N	EFO	5	EFO	genetic disorder	Hirschsprung disease - ganglioneuroblastoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2151	"" []	4393441	\N	\N	EFO	6	EFO	disease	Hirschsprung disease - ganglioneuroblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2151	"" []	5411898	\N	\N	EFO	7	EFO	disposition	Hirschsprung disease - ganglioneuroblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2151	"" []	6149023	\N	\N	EFO	8	EFO	material property	Hirschsprung disease - ganglioneuroblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2151	"" []	6632471	\N	\N	EFO	9	EFO	experimental factor	Hirschsprung disease - ganglioneuroblastoma
Orphanet:2152	\N	\N	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	74553	\N	\N	EFO	0	EFO	Mowat-Wilson syndrome	Mowat-Wilson syndrome
Orphanet:102283	Orphanet:2152	\N	"" []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	216558	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Mowat-Wilson syndrome
Orphanet:108969	Orphanet:2152	\N	"" []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	216559	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Mowat-Wilson syndrome
Orphanet:183763	Orphanet:2152	\N	"" []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	216560	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Mowat-Wilson syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	570987	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Mowat-Wilson syndrome
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	570988	\N	\N	EFO	2	EFO	Intestinal malformation	Mowat-Wilson syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	570989	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Mowat-Wilson syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	1153076	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mowat-Wilson syndrome
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	1153077	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Mowat-Wilson syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	1153078	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Mowat-Wilson syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	3186021	\N	\N	EFO	5	EFO	genetic disorder	Mowat-Wilson syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	2035601	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mowat-Wilson syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	2035602	\N	\N	EFO	4	EFO	genetic disorder	Mowat-Wilson syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	4133513	\N	\N	EFO	6	EFO	disease	Mowat-Wilson syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	5181941	\N	\N	EFO	7	EFO	disposition	Mowat-Wilson syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	5997321	\N	\N	EFO	8	EFO	material property	Mowat-Wilson syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2152	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	6550782	\N	\N	EFO	9	EFO	experimental factor	Mowat-Wilson syndrome
Orphanet:2153	\N	\N	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	74554	\N	\N	EFO	0	EFO	Hirschsprung disease - nail hypoplasia - dysmorphism	Hirschsprung disease - nail hypoplasia - dysmorphism
Orphanet:108969	Orphanet:2153	\N	"" []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	216561	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Hirschsprung disease - nail hypoplasia - dysmorphism
Orphanet:117573	Orphanet:2153	\N	"" []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	216562	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Hirschsprung disease - nail hypoplasia - dysmorphism
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	570990	\N	\N	EFO	2	EFO	Intestinal malformation	Hirschsprung disease - nail hypoplasia - dysmorphism
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	570991	\N	\N	EFO	2	EFO	Anorectal malformation	Hirschsprung disease - nail hypoplasia - dysmorphism
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	1153079	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Hirschsprung disease - nail hypoplasia - dysmorphism
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	1153080	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Hirschsprung disease - nail hypoplasia - dysmorphism
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	2035603	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hirschsprung disease - nail hypoplasia - dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	3186022	\N	\N	EFO	5	EFO	genetic disorder	Hirschsprung disease - nail hypoplasia - dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	4393443	\N	\N	EFO	6	EFO	disease	Hirschsprung disease - nail hypoplasia - dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	5411900	\N	\N	EFO	7	EFO	disposition	Hirschsprung disease - nail hypoplasia - dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	6149025	\N	\N	EFO	8	EFO	material property	Hirschsprung disease - nail hypoplasia - dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2153	"Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." []	6632472	\N	\N	EFO	9	EFO	experimental factor	Hirschsprung disease - nail hypoplasia - dysmorphism
Orphanet:2155	\N	\N	"" []	Orphanet:2155	"" []	74555	\N	\N	EFO	0	EFO	Hirschsprung disease - deafness - polydactyly	Hirschsprung disease - deafness - polydactyly
Orphanet:108969	Orphanet:2155	\N	"" []	Orphanet:2155	"" []	216563	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Hirschsprung disease - deafness - polydactyly
Orphanet:117573	Orphanet:2155	\N	"" []	Orphanet:2155	"" []	216564	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Hirschsprung disease - deafness - polydactyly
Orphanet:330206	Orphanet:2155	\N	"" []	Orphanet:2155	"" []	216565	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Hirschsprung disease - deafness - polydactyly
Orphanet:90642	Orphanet:2155	\N	"" []	Orphanet:2155	"" []	216566	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Hirschsprung disease - deafness - polydactyly
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:2155	"" []	570992	\N	\N	EFO	2	EFO	Intestinal malformation	Hirschsprung disease - deafness - polydactyly
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:2155	"" []	570993	\N	\N	EFO	2	EFO	Anorectal malformation	Hirschsprung disease - deafness - polydactyly
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2155	"" []	570994	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hirschsprung disease - deafness - polydactyly
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2155	"" []	570995	\N	\N	EFO	2	EFO	Rare genetic deafness	Hirschsprung disease - deafness - polydactyly
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:2155	"" []	1153081	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Hirschsprung disease - deafness - polydactyly
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:2155	"" []	1153082	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Hirschsprung disease - deafness - polydactyly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2155	"" []	1153083	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hirschsprung disease - deafness - polydactyly
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2155	"" []	1153084	\N	\N	EFO	3	EFO	genetic disorder	Hirschsprung disease - deafness - polydactyly
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2155	"" []	1153085	\N	\N	EFO	3	EFO	auditory system disease	Hirschsprung disease - deafness - polydactyly
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2155	"" []	2035604	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hirschsprung disease - deafness - polydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2155	"" []	3186023	\N	\N	EFO	5	EFO	genetic disorder	Hirschsprung disease - deafness - polydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2155	"" []	4133514	\N	\N	EFO	6	EFO	disease	Hirschsprung disease - deafness - polydactyly
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2155	"" []	2035607	\N	\N	EFO	4	EFO	sensory system disease	Hirschsprung disease - deafness - polydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2155	"" []	5059746	\N	\N	EFO	7	EFO	disposition	Hirschsprung disease - deafness - polydactyly
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2155	"" []	3186026	\N	\N	EFO	5	EFO	nervous system disease	Hirschsprung disease - deafness - polydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2155	"" []	5876951	\N	\N	EFO	8	EFO	material property	Hirschsprung disease - deafness - polydactyly
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2155	"" []	4393445	\N	\N	EFO	6	EFO	disease	Hirschsprung disease - deafness - polydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2155	"" []	6470156	\N	\N	EFO	9	EFO	experimental factor	Hirschsprung disease - deafness - polydactyly
Orphanet:2156	\N	\N	"" []	Orphanet:2156	"" []	74556	\N	\N	EFO	0	EFO	Hirsutism-skeletal dysplasia-intellectual disability syndrome	Hirsutism-skeletal dysplasia-intellectual disability syndrome
Orphanet:102283	Orphanet:2156	\N	"" []	Orphanet:2156	"" []	216567	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Hirsutism-skeletal dysplasia-intellectual disability syndrome
Orphanet:183763	Orphanet:2156	\N	"" []	Orphanet:2156	"" []	216568	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hirsutism-skeletal dysplasia-intellectual disability syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2156	"" []	570996	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hirsutism-skeletal dysplasia-intellectual disability syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2156	"" []	570997	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hirsutism-skeletal dysplasia-intellectual disability syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2156	"" []	1153086	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hirsutism-skeletal dysplasia-intellectual disability syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2156	"" []	1153087	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hirsutism-skeletal dysplasia-intellectual disability syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2156	"" []	2035608	\N	\N	EFO	4	EFO	genetic disorder	Hirsutism-skeletal dysplasia-intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2156	"" []	2035609	\N	\N	EFO	4	EFO	genetic disorder	Hirsutism-skeletal dysplasia-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2156	"" []	3186027	\N	\N	EFO	5	EFO	disease	Hirsutism-skeletal dysplasia-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2156	"" []	4393446	\N	\N	EFO	6	EFO	disposition	Hirsutism-skeletal dysplasia-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2156	"" []	5411902	\N	\N	EFO	7	EFO	material property	Hirsutism-skeletal dysplasia-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2156	"" []	6149026	\N	\N	EFO	8	EFO	experimental factor	Hirsutism-skeletal dysplasia-intellectual disability syndrome
Orphanet:2157	\N	\N	"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." []	Orphanet:2157	"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." []	74557	\N	\N	EFO	0	EFO	Histidinemia	Histidinemia
Orphanet:79181	Orphanet:2157	\N	"" []	Orphanet:2157	"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." []	216569	\N	\N	EFO	1	EFO	Disorder of histidine metabolism	Histidinemia
Orphanet:79062	Orphanet:79181	\N	"" []	Orphanet:2157	"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." []	570998	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Histidinemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2157	"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." []	1153088	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Histidinemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2157	"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." []	2035610	\N	\N	EFO	4	EFO	genetic disorder	Histidinemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2157	"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." []	2035611	\N	\N	EFO	4	EFO	metabolic disease	Histidinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2157	"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." []	3186028	\N	\N	EFO	5	EFO	disease	Histidinemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2157	"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." []	3186029	\N	\N	EFO	5	EFO	disease	Histidinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2157	"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." []	4393447	\N	\N	EFO	6	EFO	disposition	Histidinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2157	"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." []	5411903	\N	\N	EFO	7	EFO	material property	Histidinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2157	"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." []	6149027	\N	\N	EFO	8	EFO	experimental factor	Histidinemia
Orphanet:216	\N	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	74558	\N	\N	EFO	0	EFO	Neuronal ceroid lipofuscinosis	Neuronal ceroid lipofuscinosis
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	216570	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Neuronal ceroid lipofuscinosis
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	216571	\N	\N	EFO	1	EFO	Lysosomal disease	Neuronal ceroid lipofuscinosis
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	216572	\N	\N	EFO	1	EFO	Neurometabolic disease	Neuronal ceroid lipofuscinosis
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	216573	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Neuronal ceroid lipofuscinosis
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	216574	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Neuronal ceroid lipofuscinosis
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	570999	\N	\N	EFO	2	EFO	neurodegenerative disease	Neuronal ceroid lipofuscinosis
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	571000	\N	\N	EFO	2	EFO	brain disease	Neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	571001	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neuronal ceroid lipofuscinosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	571002	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	571003	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neuronal ceroid lipofuscinosis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	571004	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Neuronal ceroid lipofuscinosis
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	571005	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Neuronal ceroid lipofuscinosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	1153089	\N	\N	EFO	3	EFO	nervous system disease	Neuronal ceroid lipofuscinosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	1153090	\N	\N	EFO	3	EFO	nervous system disease	Neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	1153091	\N	\N	EFO	3	EFO	genetic disorder	Neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	1153092	\N	\N	EFO	3	EFO	genetic disorder	Neuronal ceroid lipofuscinosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	1153093	\N	\N	EFO	3	EFO	metabolic disease	Neuronal ceroid lipofuscinosis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	1153094	\N	\N	EFO	3	EFO	Retinal dystrophy	Neuronal ceroid lipofuscinosis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	1153095	\N	\N	EFO	3	EFO	Rare genetic eye disease	Neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	2035612	\N	\N	EFO	4	EFO	disease	Neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	5059747	\N	\N	EFO	7	EFO	disease	Neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	2035614	\N	\N	EFO	4	EFO	disease	Neuronal ceroid lipofuscinosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	2035615	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	4393449	\N	\N	EFO	6	EFO	genetic disorder	Neuronal ceroid lipofuscinosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	4393450	\N	\N	EFO	6	EFO	eye disease	Neuronal ceroid lipofuscinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	5817550	\N	\N	EFO	8	EFO	disposition	Neuronal ceroid lipofuscinosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	3186031	\N	\N	EFO	5	EFO	Rare genetic eye disease	Neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	5059748	\N	\N	EFO	7	EFO	disease	Neuronal ceroid lipofuscinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	6409933	\N	\N	EFO	9	EFO	material property	Neuronal ceroid lipofuscinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	6807775	\N	\N	EFO	10	EFO	experimental factor	Neuronal ceroid lipofuscinosis
Orphanet:2162	\N	\N	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	74559	\N	\N	EFO	0	EFO	Holoprosencephaly	Holoprosencephaly
Orphanet:102283	Orphanet:2162	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	216575	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Holoprosencephaly
Orphanet:166478	Orphanet:2162	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	216576	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Holoprosencephaly
Orphanet:183763	Orphanet:2162	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	216577	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Holoprosencephaly
Orphanet:268926	Orphanet:2162	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	216578	\N	\N	EFO	1	EFO	Midline cerebral malformation	Holoprosencephaly
Orphanet:95495	Orphanet:2162	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	216579	\N	\N	EFO	1	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Holoprosencephaly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	571006	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Holoprosencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	571007	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Holoprosencephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	571008	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Holoprosencephaly
Orphanet:269553	Orphanet:268926	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	571009	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Holoprosencephaly
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	571010	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	Holoprosencephaly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	1153096	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Holoprosencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	1153097	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Holoprosencephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	1153098	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Holoprosencephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	1153099	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Holoprosencephaly
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	1153100	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Holoprosencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	4393452	\N	\N	EFO	6	EFO	genetic disorder	Holoprosencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	4393453	\N	\N	EFO	6	EFO	genetic disorder	Holoprosencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	2035620	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Holoprosencephaly
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	2035621	\N	\N	EFO	4	EFO	Pituitary deficiency	Holoprosencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	6149029	\N	\N	EFO	8	EFO	disease	Holoprosencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	3186035	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Holoprosencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	3186036	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Holoprosencephaly
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	3186037	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Holoprosencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	6409934	\N	\N	EFO	9	EFO	disposition	Holoprosencephaly
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	4393454	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Holoprosencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	6807776	\N	\N	EFO	10	EFO	material property	Holoprosencephaly
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	5411906	\N	\N	EFO	7	EFO	genetic disorder	Holoprosencephaly
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	5411907	\N	\N	EFO	7	EFO	endocrine system disease	Holoprosencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	7048591	\N	\N	EFO	11	EFO	experimental factor	Holoprosencephaly
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2162	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	6149030	\N	\N	EFO	8	EFO	disease	Holoprosencephaly
Orphanet:2163	\N	\N	"" []	Orphanet:2163	"" []	74560	\N	\N	EFO	0	EFO	Holoprosencephaly - craniosynostosis	Holoprosencephaly - craniosynostosis
Orphanet:139393	Orphanet:2163	\N	"" []	Orphanet:2163	"" []	216580	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Holoprosencephaly - craniosynostosis
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:2163	"" []	571011	\N	\N	EFO	2	EFO	Craniosynostosis	Holoprosencephaly - craniosynostosis
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:2163	"" []	1153101	\N	\N	EFO	3	EFO	Genetic cranial malformation	Holoprosencephaly - craniosynostosis
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:2163	"" []	1153102	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Holoprosencephaly - craniosynostosis
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:2163	"" []	2035622	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Holoprosencephaly - craniosynostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2163	"" []	2035623	\N	\N	EFO	4	EFO	Rare genetic bone disease	Holoprosencephaly - craniosynostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2163	"" []	2035624	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Holoprosencephaly - craniosynostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2163	"" []	4393457	\N	\N	EFO	6	EFO	genetic disorder	Holoprosencephaly - craniosynostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2163	"" []	3186039	\N	\N	EFO	5	EFO	genetic disorder	Holoprosencephaly - craniosynostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2163	"" []	3186040	\N	\N	EFO	5	EFO	bone disease	Holoprosencephaly - craniosynostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2163	"" []	3186041	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Holoprosencephaly - craniosynostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2163	"" []	5181944	\N	\N	EFO	7	EFO	disease	Holoprosencephaly - craniosynostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2163	"" []	4393456	\N	\N	EFO	6	EFO	skeletal system disease	Holoprosencephaly - craniosynostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2163	"" []	5997324	\N	\N	EFO	8	EFO	disposition	Holoprosencephaly - craniosynostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2163	"" []	5411909	\N	\N	EFO	7	EFO	disease	Holoprosencephaly - craniosynostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2163	"" []	6550783	\N	\N	EFO	9	EFO	material property	Holoprosencephaly - craniosynostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2163	"" []	6889117	\N	\N	EFO	10	EFO	experimental factor	Holoprosencephaly - craniosynostosis
Orphanet:216445	\N	\N	"" []	Orphanet:216445	"" []	74561	\N	\N	EFO	0	EFO	Prelingual non-syndromic genetic deafness	Prelingual non-syndromic genetic deafness
Orphanet:87884	Orphanet:216445	\N	"" []	Orphanet:216445	"" []	216581	\N	\N	EFO	1	EFO	Non-syndromic genetic deafness	Prelingual non-syndromic genetic deafness
Orphanet:96210	Orphanet:87884	\N	"" []	Orphanet:216445	"" []	571012	\N	\N	EFO	2	EFO	Rare genetic deafness	Prelingual non-syndromic genetic deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216445	"" []	1153103	\N	\N	EFO	3	EFO	genetic disorder	Prelingual non-syndromic genetic deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:216445	"" []	1153104	\N	\N	EFO	3	EFO	auditory system disease	Prelingual non-syndromic genetic deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216445	"" []	2035625	\N	\N	EFO	4	EFO	disease	Prelingual non-syndromic genetic deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:216445	"" []	2035626	\N	\N	EFO	4	EFO	sensory system disease	Prelingual non-syndromic genetic deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216445	"" []	5411911	\N	\N	EFO	7	EFO	disposition	Prelingual non-syndromic genetic deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216445	"" []	3186043	\N	\N	EFO	5	EFO	nervous system disease	Prelingual non-syndromic genetic deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216445	"" []	5876953	\N	\N	EFO	8	EFO	material property	Prelingual non-syndromic genetic deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216445	"" []	4393459	\N	\N	EFO	6	EFO	disease	Prelingual non-syndromic genetic deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216445	"" []	6470158	\N	\N	EFO	9	EFO	experimental factor	Prelingual non-syndromic genetic deafness
Orphanet:216452	\N	\N	"" []	Orphanet:216452	"" []	74562	\N	\N	EFO	0	EFO	Postlingual non-syndromic genetic deafness	Postlingual non-syndromic genetic deafness
Orphanet:87884	Orphanet:216452	\N	"" []	Orphanet:216452	"" []	216582	\N	\N	EFO	1	EFO	Non-syndromic genetic deafness	Postlingual non-syndromic genetic deafness
Orphanet:96210	Orphanet:87884	\N	"" []	Orphanet:216452	"" []	571013	\N	\N	EFO	2	EFO	Rare genetic deafness	Postlingual non-syndromic genetic deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216452	"" []	1153105	\N	\N	EFO	3	EFO	genetic disorder	Postlingual non-syndromic genetic deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:216452	"" []	1153106	\N	\N	EFO	3	EFO	auditory system disease	Postlingual non-syndromic genetic deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216452	"" []	2035627	\N	\N	EFO	4	EFO	disease	Postlingual non-syndromic genetic deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:216452	"" []	2035628	\N	\N	EFO	4	EFO	sensory system disease	Postlingual non-syndromic genetic deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216452	"" []	5411913	\N	\N	EFO	7	EFO	disposition	Postlingual non-syndromic genetic deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216452	"" []	3186045	\N	\N	EFO	5	EFO	nervous system disease	Postlingual non-syndromic genetic deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216452	"" []	5876954	\N	\N	EFO	8	EFO	material property	Postlingual non-syndromic genetic deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216452	"" []	4393461	\N	\N	EFO	6	EFO	disease	Postlingual non-syndromic genetic deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216452	"" []	6470159	\N	\N	EFO	9	EFO	experimental factor	Postlingual non-syndromic genetic deafness
Orphanet:2166	\N	\N	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	74563	\N	\N	EFO	0	EFO	Holoprosencephaly - postaxial polydactyly	Holoprosencephaly - postaxial polydactyly
Orphanet:102283	Orphanet:2166	\N	"" []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	216583	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Holoprosencephaly - postaxial polydactyly
Orphanet:183763	Orphanet:2166	\N	"" []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	216584	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Holoprosencephaly - postaxial polydactyly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	571014	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Holoprosencephaly - postaxial polydactyly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	571015	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Holoprosencephaly - postaxial polydactyly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	1153107	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Holoprosencephaly - postaxial polydactyly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	1153108	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Holoprosencephaly - postaxial polydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	2035629	\N	\N	EFO	4	EFO	genetic disorder	Holoprosencephaly - postaxial polydactyly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	2035630	\N	\N	EFO	4	EFO	genetic disorder	Holoprosencephaly - postaxial polydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	3186046	\N	\N	EFO	5	EFO	disease	Holoprosencephaly - postaxial polydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	4393462	\N	\N	EFO	6	EFO	disposition	Holoprosencephaly - postaxial polydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	5411914	\N	\N	EFO	7	EFO	material property	Holoprosencephaly - postaxial polydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2166	"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." []	6149032	\N	\N	EFO	8	EFO	experimental factor	Holoprosencephaly - postaxial polydactyly
Orphanet:2167	\N	\N	"" []	Orphanet:2167	"" []	74564	\N	\N	EFO	0	EFO	Holzgreve-Wagner-Rehder syndrome	Holzgreve-Wagner-Rehder syndrome
Orphanet:139039	Orphanet:2167	\N	"" []	Orphanet:2167	"" []	216585	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Holzgreve-Wagner-Rehder syndrome
Orphanet:330206	Orphanet:2167	\N	"" []	Orphanet:2167	"" []	216586	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Holzgreve-Wagner-Rehder syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2167	"" []	571016	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Holzgreve-Wagner-Rehder syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2167	"" []	571017	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Holzgreve-Wagner-Rehder syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2167	"" []	1153109	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Holzgreve-Wagner-Rehder syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2167	"" []	1153110	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Holzgreve-Wagner-Rehder syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2167	"" []	2035631	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Holzgreve-Wagner-Rehder syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2167	"" []	4393463	\N	\N	EFO	6	EFO	genetic disorder	Holzgreve-Wagner-Rehder syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2167	"" []	3186047	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Holzgreve-Wagner-Rehder syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2167	"" []	5059750	\N	\N	EFO	7	EFO	disease	Holzgreve-Wagner-Rehder syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2167	"" []	5876955	\N	\N	EFO	8	EFO	disposition	Holzgreve-Wagner-Rehder syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2167	"" []	6470160	\N	\N	EFO	9	EFO	material property	Holzgreve-Wagner-Rehder syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2167	"" []	6848387	\N	\N	EFO	10	EFO	experimental factor	Holzgreve-Wagner-Rehder syndrome
Orphanet:216718	\N	\N	"" []	Orphanet:216718	"" []	74565	\N	\N	EFO	0	EFO	Isolated congenitally uncorrected transposition of the great arteries	Isolated congenitally uncorrected transposition of the great arteries
Orphanet:860	Orphanet:216718	\N	"" []	Orphanet:216718	"" []	216587	\N	\N	EFO	1	EFO	Congenitally uncorrected transposition of the great arteries	Isolated congenitally uncorrected transposition of the great arteries
Orphanet:271853	Orphanet:860	\N	"" []	Orphanet:216718	"" []	571018	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Isolated congenitally uncorrected transposition of the great arteries
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:216718	"" []	1153111	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Isolated congenitally uncorrected transposition of the great arteries
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216718	"" []	2035633	\N	\N	EFO	4	EFO	genetic disorder	Isolated congenitally uncorrected transposition of the great arteries
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216718	"" []	3186049	\N	\N	EFO	5	EFO	disease	Isolated congenitally uncorrected transposition of the great arteries
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216718	"" []	4393465	\N	\N	EFO	6	EFO	disposition	Isolated congenitally uncorrected transposition of the great arteries
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216718	"" []	5411916	\N	\N	EFO	7	EFO	material property	Isolated congenitally uncorrected transposition of the great arteries
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216718	"" []	6149034	\N	\N	EFO	8	EFO	experimental factor	Isolated congenitally uncorrected transposition of the great arteries
Orphanet:216729	\N	\N	"" []	Orphanet:216729	"" []	74566	\N	\N	EFO	0	EFO	Congenitally uncorrected transposition of the great arteries with cardiac malformation	Congenitally uncorrected transposition of the great arteries with cardiac malformation
Orphanet:860	Orphanet:216729	\N	"" []	Orphanet:216729	"" []	216588	\N	\N	EFO	1	EFO	Congenitally uncorrected transposition of the great arteries	Congenitally uncorrected transposition of the great arteries with cardiac malformation
Orphanet:271853	Orphanet:860	\N	"" []	Orphanet:216729	"" []	571019	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Congenitally uncorrected transposition of the great arteries with cardiac malformation
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:216729	"" []	1153112	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenitally uncorrected transposition of the great arteries with cardiac malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216729	"" []	2035634	\N	\N	EFO	4	EFO	genetic disorder	Congenitally uncorrected transposition of the great arteries with cardiac malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216729	"" []	3186050	\N	\N	EFO	5	EFO	disease	Congenitally uncorrected transposition of the great arteries with cardiac malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216729	"" []	4393466	\N	\N	EFO	6	EFO	disposition	Congenitally uncorrected transposition of the great arteries with cardiac malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216729	"" []	5411917	\N	\N	EFO	7	EFO	material property	Congenitally uncorrected transposition of the great arteries with cardiac malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216729	"" []	6149035	\N	\N	EFO	8	EFO	experimental factor	Congenitally uncorrected transposition of the great arteries with cardiac malformation
Orphanet:216796	\N	\N	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	74567	\N	\N	EFO	0	EFO	Osteogenesis imperfecta type 1	Osteogenesis imperfecta type 1
Orphanet:666	Orphanet:216796	\N	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	216589	\N	\N	EFO	1	EFO	Osteogenesis imperfecta	Osteogenesis imperfecta type 1
Orphanet:93446	Orphanet:666	\N	"" []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	571020	\N	\N	EFO	2	EFO	Primary bone dysplasia with decreased bone density	Osteogenesis imperfecta type 1
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	1153113	\N	\N	EFO	3	EFO	Primary bone dysplasia	Osteogenesis imperfecta type 1
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	2035635	\N	\N	EFO	4	EFO	Rare genetic bone disease	Osteogenesis imperfecta type 1
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	2035636	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Osteogenesis imperfecta type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	3186051	\N	\N	EFO	5	EFO	genetic disorder	Osteogenesis imperfecta type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	3186052	\N	\N	EFO	5	EFO	bone disease	Osteogenesis imperfecta type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	3186053	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Osteogenesis imperfecta type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	5411920	\N	\N	EFO	7	EFO	disease	Osteogenesis imperfecta type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	4393468	\N	\N	EFO	6	EFO	skeletal system disease	Osteogenesis imperfecta type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	4393469	\N	\N	EFO	6	EFO	genetic disorder	Osteogenesis imperfecta type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	5997325	\N	\N	EFO	8	EFO	disposition	Osteogenesis imperfecta type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	5411919	\N	\N	EFO	7	EFO	disease	Osteogenesis imperfecta type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	6550784	\N	\N	EFO	9	EFO	material property	Osteogenesis imperfecta type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216796	"Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." []	6889118	\N	\N	EFO	10	EFO	experimental factor	Osteogenesis imperfecta type 1
Orphanet:2168	\N	\N	"" []	Orphanet:2168	"" []	74568	\N	\N	EFO	0	EFO	Homocarnosinosis	Homocarnosinosis
Orphanet:79187	Orphanet:2168	\N	"" []	Orphanet:2168	"" []	216590	\N	\N	EFO	1	EFO	Disorder of peptide metabolism	Homocarnosinosis
Orphanet:79062	Orphanet:79187	\N	"" []	Orphanet:2168	"" []	571021	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Homocarnosinosis
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2168	"" []	1153114	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Homocarnosinosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2168	"" []	2035637	\N	\N	EFO	4	EFO	genetic disorder	Homocarnosinosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2168	"" []	2035638	\N	\N	EFO	4	EFO	metabolic disease	Homocarnosinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2168	"" []	3186054	\N	\N	EFO	5	EFO	disease	Homocarnosinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2168	"" []	3186055	\N	\N	EFO	5	EFO	disease	Homocarnosinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2168	"" []	4393470	\N	\N	EFO	6	EFO	disposition	Homocarnosinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2168	"" []	5411921	\N	\N	EFO	7	EFO	material property	Homocarnosinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2168	"" []	6149037	\N	\N	EFO	8	EFO	experimental factor	Homocarnosinosis
Orphanet:216804	\N	\N	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	74569	\N	\N	EFO	0	EFO	Osteogenesis imperfecta type 2	Osteogenesis imperfecta type 2
Orphanet:666	Orphanet:216804	\N	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	216591	\N	\N	EFO	1	EFO	Osteogenesis imperfecta	Osteogenesis imperfecta type 2
Orphanet:93446	Orphanet:666	\N	"" []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	571022	\N	\N	EFO	2	EFO	Primary bone dysplasia with decreased bone density	Osteogenesis imperfecta type 2
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	1153115	\N	\N	EFO	3	EFO	Primary bone dysplasia	Osteogenesis imperfecta type 2
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	2035639	\N	\N	EFO	4	EFO	Rare genetic bone disease	Osteogenesis imperfecta type 2
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	2035640	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Osteogenesis imperfecta type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	3186056	\N	\N	EFO	5	EFO	genetic disorder	Osteogenesis imperfecta type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	3186057	\N	\N	EFO	5	EFO	bone disease	Osteogenesis imperfecta type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	3186058	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Osteogenesis imperfecta type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	5411924	\N	\N	EFO	7	EFO	disease	Osteogenesis imperfecta type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	4393472	\N	\N	EFO	6	EFO	skeletal system disease	Osteogenesis imperfecta type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	4393473	\N	\N	EFO	6	EFO	genetic disorder	Osteogenesis imperfecta type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	5997326	\N	\N	EFO	8	EFO	disposition	Osteogenesis imperfecta type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	5411923	\N	\N	EFO	7	EFO	disease	Osteogenesis imperfecta type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	6550785	\N	\N	EFO	9	EFO	material property	Osteogenesis imperfecta type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216804	"Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." []	6889119	\N	\N	EFO	10	EFO	experimental factor	Osteogenesis imperfecta type 2
Orphanet:216812	\N	\N	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	74570	\N	\N	EFO	0	EFO	Osteogenesis imperfecta type 3	Osteogenesis imperfecta type 3
Orphanet:167762	Orphanet:216812	\N	"" []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	216592	\N	\N	EFO	1	EFO	Rare disease with dentinogenesis imperfecta	Osteogenesis imperfecta type 3
Orphanet:666	Orphanet:216812	\N	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	216593	\N	\N	EFO	1	EFO	Osteogenesis imperfecta	Osteogenesis imperfecta type 3
Orphanet:77830	Orphanet:167762	\N	"" []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	571023	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Osteogenesis imperfecta type 3
Orphanet:93446	Orphanet:666	\N	"" []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	571024	\N	\N	EFO	2	EFO	Primary bone dysplasia with decreased bone density	Osteogenesis imperfecta type 3
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	1153116	\N	\N	EFO	3	EFO	genetic disorder	Osteogenesis imperfecta type 3
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	1153117	\N	\N	EFO	3	EFO	Primary bone dysplasia	Osteogenesis imperfecta type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	5411927	\N	\N	EFO	7	EFO	disease	Osteogenesis imperfecta type 3
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	2035642	\N	\N	EFO	4	EFO	Rare genetic bone disease	Osteogenesis imperfecta type 3
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	2035643	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Osteogenesis imperfecta type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	5817551	\N	\N	EFO	8	EFO	disposition	Osteogenesis imperfecta type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	3186060	\N	\N	EFO	5	EFO	genetic disorder	Osteogenesis imperfecta type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	3186061	\N	\N	EFO	5	EFO	bone disease	Osteogenesis imperfecta type 3
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	3186062	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Osteogenesis imperfecta type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	6409935	\N	\N	EFO	9	EFO	material property	Osteogenesis imperfecta type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	4393476	\N	\N	EFO	6	EFO	skeletal system disease	Osteogenesis imperfecta type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	4393477	\N	\N	EFO	6	EFO	genetic disorder	Osteogenesis imperfecta type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	6807777	\N	\N	EFO	10	EFO	experimental factor	Osteogenesis imperfecta type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216812	"Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." []	5411926	\N	\N	EFO	7	EFO	disease	Osteogenesis imperfecta type 3
Orphanet:216820	\N	\N	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	74571	\N	\N	EFO	0	EFO	Osteogenesis imperfecta type 4	Osteogenesis imperfecta type 4
Orphanet:167762	Orphanet:216820	\N	"" []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	216594	\N	\N	EFO	1	EFO	Rare disease with dentinogenesis imperfecta	Osteogenesis imperfecta type 4
Orphanet:666	Orphanet:216820	\N	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	216595	\N	\N	EFO	1	EFO	Osteogenesis imperfecta	Osteogenesis imperfecta type 4
Orphanet:77830	Orphanet:167762	\N	"" []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	571025	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Osteogenesis imperfecta type 4
Orphanet:93446	Orphanet:666	\N	"" []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	571026	\N	\N	EFO	2	EFO	Primary bone dysplasia with decreased bone density	Osteogenesis imperfecta type 4
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	1153118	\N	\N	EFO	3	EFO	genetic disorder	Osteogenesis imperfecta type 4
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	1153119	\N	\N	EFO	3	EFO	Primary bone dysplasia	Osteogenesis imperfecta type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	5411930	\N	\N	EFO	7	EFO	disease	Osteogenesis imperfecta type 4
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	2035645	\N	\N	EFO	4	EFO	Rare genetic bone disease	Osteogenesis imperfecta type 4
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	2035646	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Osteogenesis imperfecta type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	5817552	\N	\N	EFO	8	EFO	disposition	Osteogenesis imperfecta type 4
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	3186064	\N	\N	EFO	5	EFO	genetic disorder	Osteogenesis imperfecta type 4
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	3186065	\N	\N	EFO	5	EFO	bone disease	Osteogenesis imperfecta type 4
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	3186066	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Osteogenesis imperfecta type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	6409936	\N	\N	EFO	9	EFO	material property	Osteogenesis imperfecta type 4
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	4393480	\N	\N	EFO	6	EFO	skeletal system disease	Osteogenesis imperfecta type 4
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	4393481	\N	\N	EFO	6	EFO	genetic disorder	Osteogenesis imperfecta type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	6807778	\N	\N	EFO	10	EFO	experimental factor	Osteogenesis imperfecta type 4
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216820	"Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." []	5411929	\N	\N	EFO	7	EFO	disease	Osteogenesis imperfecta type 4
Orphanet:216828	\N	\N	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	74572	\N	\N	EFO	0	EFO	Osteogenesis imperfecta type 5	Osteogenesis imperfecta type 5
Orphanet:666	Orphanet:216828	\N	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	216596	\N	\N	EFO	1	EFO	Osteogenesis imperfecta	Osteogenesis imperfecta type 5
Orphanet:93446	Orphanet:666	\N	"" []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	571027	\N	\N	EFO	2	EFO	Primary bone dysplasia with decreased bone density	Osteogenesis imperfecta type 5
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	1153120	\N	\N	EFO	3	EFO	Primary bone dysplasia	Osteogenesis imperfecta type 5
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	2035647	\N	\N	EFO	4	EFO	Rare genetic bone disease	Osteogenesis imperfecta type 5
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	2035648	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Osteogenesis imperfecta type 5
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	3186067	\N	\N	EFO	5	EFO	genetic disorder	Osteogenesis imperfecta type 5
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	3186068	\N	\N	EFO	5	EFO	bone disease	Osteogenesis imperfecta type 5
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	3186069	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Osteogenesis imperfecta type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	5411933	\N	\N	EFO	7	EFO	disease	Osteogenesis imperfecta type 5
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	4393483	\N	\N	EFO	6	EFO	skeletal system disease	Osteogenesis imperfecta type 5
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	4393484	\N	\N	EFO	6	EFO	genetic disorder	Osteogenesis imperfecta type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	5997327	\N	\N	EFO	8	EFO	disposition	Osteogenesis imperfecta type 5
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	5411932	\N	\N	EFO	7	EFO	disease	Osteogenesis imperfecta type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	6550786	\N	\N	EFO	9	EFO	material property	Osteogenesis imperfecta type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216828	"Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." []	6889120	\N	\N	EFO	10	EFO	experimental factor	Osteogenesis imperfecta type 5
Orphanet:216866	\N	\N	"" []	Orphanet:216866	"" []	74573	\N	\N	EFO	0	EFO	Classic pantothenate kinase-associated neurodegeneration	Classic pantothenate kinase-associated neurodegeneration
Orphanet:157850	Orphanet:216866	\N	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	Orphanet:216866	"" []	216597	\N	\N	EFO	1	EFO	Pantothenate kinase-associated neurodegeneration	Classic pantothenate kinase-associated neurodegeneration
EFO:0005596	Orphanet:157850	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:216866	"" []	571028	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Classic pantothenate kinase-associated neurodegeneration
Orphanet:263440	Orphanet:157850	\N	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	Orphanet:216866	"" []	571029	\N	\N	EFO	2	EFO	Neuroacanthocytosis	Classic pantothenate kinase-associated neurodegeneration
Orphanet:309833	Orphanet:157850	\N	"" []	Orphanet:216866	"" []	571030	\N	\N	EFO	2	EFO	Disorder of other vitamins and cofactors metabolism and transport	Classic pantothenate kinase-associated neurodegeneration
Orphanet:352306	Orphanet:157850	\N	"" []	Orphanet:216866	"" []	571031	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Classic pantothenate kinase-associated neurodegeneration
Orphanet:385	Orphanet:157850	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:216866	"" []	571032	\N	\N	EFO	2	EFO	Neurodegeneration with brain iron accumulation	Classic pantothenate kinase-associated neurodegeneration
Orphanet:98661	Orphanet:157850	\N	"" []	Orphanet:216866	"" []	571033	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	Classic pantothenate kinase-associated neurodegeneration
Orphanet:98713	Orphanet:157850	\N	"" []	Orphanet:216866	"" []	571034	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Classic pantothenate kinase-associated neurodegeneration
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:216866	"" []	1153121	\N	\N	EFO	3	EFO	metabolic disease	Classic pantothenate kinase-associated neurodegeneration
Orphanet:158266	Orphanet:263440	\N	"" []	Orphanet:216866	"" []	1153122	\N	\N	EFO	3	EFO	Huntington disease-like syndrome	Classic pantothenate kinase-associated neurodegeneration
Orphanet:307058	Orphanet:263440	\N	"" []	Orphanet:216866	"" []	1153123	\N	\N	EFO	3	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Classic pantothenate kinase-associated neurodegeneration
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:216866	"" []	1153124	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Classic pantothenate kinase-associated neurodegeneration
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:216866	"" []	1153125	\N	\N	EFO	3	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Classic pantothenate kinase-associated neurodegeneration
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:216866	"" []	1153126	\N	\N	EFO	3	EFO	Genetic dementia	Classic pantothenate kinase-associated neurodegeneration
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:216866	"" []	1153127	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Classic pantothenate kinase-associated neurodegeneration
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:216866	"" []	1153128	\N	\N	EFO	3	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Classic pantothenate kinase-associated neurodegeneration
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:216866	"" []	1153129	\N	\N	EFO	3	EFO	Neurometabolic disease	Classic pantothenate kinase-associated neurodegeneration
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:216866	"" []	1153130	\N	\N	EFO	3	EFO	Retinal dystrophy	Classic pantothenate kinase-associated neurodegeneration
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:216866	"" []	1153131	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Classic pantothenate kinase-associated neurodegeneration
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216866	"" []	5411936	\N	\N	EFO	7	EFO	disease	Classic pantothenate kinase-associated neurodegeneration
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:216866	"" []	2035650	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Classic pantothenate kinase-associated neurodegeneration
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216866	"" []	2035651	\N	\N	EFO	4	EFO	neurodegenerative disease	Classic pantothenate kinase-associated neurodegeneration
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:216866	"" []	2035652	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Classic pantothenate kinase-associated neurodegeneration
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:216866	"" []	2035653	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Classic pantothenate kinase-associated neurodegeneration
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:216866	"" []	2035654	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Classic pantothenate kinase-associated neurodegeneration
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216866	"" []	2035655	\N	\N	EFO	4	EFO	brain disease	Classic pantothenate kinase-associated neurodegeneration
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:216866	"" []	2035656	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Classic pantothenate kinase-associated neurodegeneration
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216866	"" []	3186071	\N	\N	EFO	5	EFO	neurodegenerative disease	Classic pantothenate kinase-associated neurodegeneration
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216866	"" []	3186072	\N	\N	EFO	5	EFO	brain disease	Classic pantothenate kinase-associated neurodegeneration
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:216866	"" []	3186073	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Classic pantothenate kinase-associated neurodegeneration
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:216866	"" []	2035660	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Classic pantothenate kinase-associated neurodegeneration
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:216866	"" []	2035661	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Classic pantothenate kinase-associated neurodegeneration
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:216866	"" []	2035662	\N	\N	EFO	4	EFO	Rare genetic eye disease	Classic pantothenate kinase-associated neurodegeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216866	"" []	5817553	\N	\N	EFO	8	EFO	disposition	Classic pantothenate kinase-associated neurodegeneration
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216866	"" []	4133517	\N	\N	EFO	6	EFO	nervous system disease	Classic pantothenate kinase-associated neurodegeneration
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:216866	"" []	3186075	\N	\N	EFO	5	EFO	movement disorder	Classic pantothenate kinase-associated neurodegeneration
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:216866	"" []	3186076	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Classic pantothenate kinase-associated neurodegeneration
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:216866	"" []	3186077	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Classic pantothenate kinase-associated neurodegeneration
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:216866	"" []	3186078	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Classic pantothenate kinase-associated neurodegeneration
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216866	"" []	4133518	\N	\N	EFO	6	EFO	nervous system disease	Classic pantothenate kinase-associated neurodegeneration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216866	"" []	4133519	\N	\N	EFO	6	EFO	genetic disorder	Classic pantothenate kinase-associated neurodegeneration
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:216866	"" []	3186081	\N	\N	EFO	5	EFO	Rare genetic eye disease	Classic pantothenate kinase-associated neurodegeneration
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216866	"" []	4393491	\N	\N	EFO	6	EFO	genetic disorder	Classic pantothenate kinase-associated neurodegeneration
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216866	"" []	4393492	\N	\N	EFO	6	EFO	eye disease	Classic pantothenate kinase-associated neurodegeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216866	"" []	6409937	\N	\N	EFO	9	EFO	material property	Classic pantothenate kinase-associated neurodegeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216866	"" []	5181945	\N	\N	EFO	7	EFO	disease	Classic pantothenate kinase-associated neurodegeneration
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216866	"" []	4393487	\N	\N	EFO	6	EFO	nervous system disease	Classic pantothenate kinase-associated neurodegeneration
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216866	"" []	4393488	\N	\N	EFO	6	EFO	genetic disorder	Classic pantothenate kinase-associated neurodegeneration
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:216866	"" []	4393489	\N	\N	EFO	6	EFO	metabolic disease	Classic pantothenate kinase-associated neurodegeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216866	"" []	5181946	\N	\N	EFO	7	EFO	disease	Classic pantothenate kinase-associated neurodegeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216866	"" []	5181947	\N	\N	EFO	7	EFO	disease	Classic pantothenate kinase-associated neurodegeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216866	"" []	6807779	\N	\N	EFO	10	EFO	experimental factor	Classic pantothenate kinase-associated neurodegeneration
Orphanet:216873	\N	\N	"" []	Orphanet:216873	"" []	74574	\N	\N	EFO	0	EFO	Atypical pantothenate kinase-associated neurodegeneration	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:157850	Orphanet:216873	\N	"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." []	Orphanet:216873	"" []	216598	\N	\N	EFO	1	EFO	Pantothenate kinase-associated neurodegeneration	Atypical pantothenate kinase-associated neurodegeneration
EFO:0005596	Orphanet:157850	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:216873	"" []	571035	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:263440	Orphanet:157850	\N	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	Orphanet:216873	"" []	571036	\N	\N	EFO	2	EFO	Neuroacanthocytosis	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:309833	Orphanet:157850	\N	"" []	Orphanet:216873	"" []	571037	\N	\N	EFO	2	EFO	Disorder of other vitamins and cofactors metabolism and transport	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:352306	Orphanet:157850	\N	"" []	Orphanet:216873	"" []	571038	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:385	Orphanet:157850	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:216873	"" []	571039	\N	\N	EFO	2	EFO	Neurodegeneration with brain iron accumulation	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:98661	Orphanet:157850	\N	"" []	Orphanet:216873	"" []	571040	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:98713	Orphanet:157850	\N	"" []	Orphanet:216873	"" []	571041	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:216873	"" []	1153132	\N	\N	EFO	3	EFO	metabolic disease	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:158266	Orphanet:263440	\N	"" []	Orphanet:216873	"" []	1153133	\N	\N	EFO	3	EFO	Huntington disease-like syndrome	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:307058	Orphanet:263440	\N	"" []	Orphanet:216873	"" []	1153134	\N	\N	EFO	3	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:216873	"" []	1153135	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:216873	"" []	1153136	\N	\N	EFO	3	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:216873	"" []	1153137	\N	\N	EFO	3	EFO	Genetic dementia	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:216873	"" []	1153138	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:216873	"" []	1153139	\N	\N	EFO	3	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:216873	"" []	1153140	\N	\N	EFO	3	EFO	Neurometabolic disease	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:216873	"" []	1153141	\N	\N	EFO	3	EFO	Retinal dystrophy	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:216873	"" []	1153142	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216873	"" []	5411939	\N	\N	EFO	7	EFO	disease	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:216873	"" []	2035664	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Atypical pantothenate kinase-associated neurodegeneration
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216873	"" []	2035665	\N	\N	EFO	4	EFO	neurodegenerative disease	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:216873	"" []	2035666	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:216873	"" []	2035667	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:216873	"" []	2035668	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Atypical pantothenate kinase-associated neurodegeneration
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216873	"" []	2035669	\N	\N	EFO	4	EFO	brain disease	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:216873	"" []	2035670	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Atypical pantothenate kinase-associated neurodegeneration
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216873	"" []	3186085	\N	\N	EFO	5	EFO	neurodegenerative disease	Atypical pantothenate kinase-associated neurodegeneration
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216873	"" []	3186086	\N	\N	EFO	5	EFO	brain disease	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:216873	"" []	3186087	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:216873	"" []	2035674	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:216873	"" []	2035675	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:216873	"" []	2035676	\N	\N	EFO	4	EFO	Rare genetic eye disease	Atypical pantothenate kinase-associated neurodegeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216873	"" []	5817554	\N	\N	EFO	8	EFO	disposition	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216873	"" []	4133520	\N	\N	EFO	6	EFO	nervous system disease	Atypical pantothenate kinase-associated neurodegeneration
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:216873	"" []	3186089	\N	\N	EFO	5	EFO	movement disorder	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:216873	"" []	3186090	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:216873	"" []	3186091	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:216873	"" []	3186092	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216873	"" []	4133521	\N	\N	EFO	6	EFO	nervous system disease	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216873	"" []	4133522	\N	\N	EFO	6	EFO	genetic disorder	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:216873	"" []	3186095	\N	\N	EFO	5	EFO	Rare genetic eye disease	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216873	"" []	4393500	\N	\N	EFO	6	EFO	genetic disorder	Atypical pantothenate kinase-associated neurodegeneration
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216873	"" []	4393501	\N	\N	EFO	6	EFO	eye disease	Atypical pantothenate kinase-associated neurodegeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216873	"" []	6409938	\N	\N	EFO	9	EFO	material property	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216873	"" []	5181948	\N	\N	EFO	7	EFO	disease	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216873	"" []	4393496	\N	\N	EFO	6	EFO	nervous system disease	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216873	"" []	4393497	\N	\N	EFO	6	EFO	genetic disorder	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:216873	"" []	4393498	\N	\N	EFO	6	EFO	metabolic disease	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216873	"" []	5181949	\N	\N	EFO	7	EFO	disease	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216873	"" []	5181950	\N	\N	EFO	7	EFO	disease	Atypical pantothenate kinase-associated neurodegeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216873	"" []	6807780	\N	\N	EFO	10	EFO	experimental factor	Atypical pantothenate kinase-associated neurodegeneration
Orphanet:2169	\N	\N	"" []	Orphanet:2169	"" []	74575	\N	\N	EFO	0	EFO	Methylcobalamin deficiency type cblE	Methylcobalamin deficiency type cblE
Orphanet:622	Orphanet:2169	\N	"v1)." []	Orphanet:2169	"" []	216599	\N	\N	EFO	1	EFO	Homocystinuria without methylmalonic aciduria	Methylcobalamin deficiency type cblE
Orphanet:68385	Orphanet:622	\N	"" []	Orphanet:2169	"" []	571042	\N	\N	EFO	2	EFO	Neurometabolic disease	Methylcobalamin deficiency type cblE
Orphanet:79171	Orphanet:622	\N	"" []	Orphanet:2169	"" []	571043	\N	\N	EFO	2	EFO	Disorder of cobalamin metabolism and transport	Methylcobalamin deficiency type cblE
Orphanet:79173	Orphanet:622	\N	"" []	Orphanet:2169	"" []	571044	\N	\N	EFO	2	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Methylcobalamin deficiency type cblE
Orphanet:98396	Orphanet:622	\N	"" []	Orphanet:2169	"" []	571045	\N	\N	EFO	2	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Methylcobalamin deficiency type cblE
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:2169	"" []	1153143	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Methylcobalamin deficiency type cblE
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:2169	"" []	1153144	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Methylcobalamin deficiency type cblE
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:2169	"" []	1153145	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Methylcobalamin deficiency type cblE
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:2169	"" []	1153146	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Methylcobalamin deficiency type cblE
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:2169	"" []	1153147	\N	\N	EFO	3	EFO	Constitutional deficiency anemia	Methylcobalamin deficiency type cblE
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2169	"" []	2035677	\N	\N	EFO	4	EFO	genetic disorder	Methylcobalamin deficiency type cblE
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2169	"" []	2035678	\N	\N	EFO	4	EFO	metabolic disease	Methylcobalamin deficiency type cblE
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:2169	"" []	2035679	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Methylcobalamin deficiency type cblE
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2169	"" []	2035680	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Methylcobalamin deficiency type cblE
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:2169	"" []	2035681	\N	\N	EFO	4	EFO	Rare constitutional anemia	Methylcobalamin deficiency type cblE
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2169	"" []	5181952	\N	\N	EFO	7	EFO	disease	Methylcobalamin deficiency type cblE
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2169	"" []	5181953	\N	\N	EFO	7	EFO	disease	Methylcobalamin deficiency type cblE
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:2169	"" []	3186100	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylcobalamin deficiency type cblE
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2169	"" []	4393504	\N	\N	EFO	6	EFO	genetic disorder	Methylcobalamin deficiency type cblE
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2169	"" []	4393505	\N	\N	EFO	6	EFO	metabolic disease	Methylcobalamin deficiency type cblE
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:2169	"" []	3186103	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Methylcobalamin deficiency type cblE
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2169	"" []	5876960	\N	\N	EFO	8	EFO	disposition	Methylcobalamin deficiency type cblE
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2169	"" []	4393508	\N	\N	EFO	6	EFO	genetic disorder	Methylcobalamin deficiency type cblE
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:2169	"" []	4393509	\N	\N	EFO	6	EFO	hematological system disease	Methylcobalamin deficiency type cblE
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2169	"" []	6470165	\N	\N	EFO	9	EFO	material property	Methylcobalamin deficiency type cblE
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2169	"" []	5411941	\N	\N	EFO	7	EFO	disease	Methylcobalamin deficiency type cblE
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2169	"" []	6848388	\N	\N	EFO	10	EFO	experimental factor	Methylcobalamin deficiency type cblE
Orphanet:216972	\N	\N	"" []	Orphanet:216972	"" []	74576	\N	\N	EFO	0	EFO	Niemann-Pick disease type C, severe perinatal form	Niemann-Pick disease type C, severe perinatal form
Orphanet:646	Orphanet:216972	\N	"" []	Orphanet:216972	"" []	216600	\N	\N	EFO	1	EFO	Niemann-Pick disease type C	Niemann-Pick disease type C, severe perinatal form
EFO:0003824	Orphanet:646	\N	"Tumors or cancer of the EYE." []	Orphanet:216972	"" []	571046	\N	\N	EFO	2	EFO	eye neoplasm	Niemann-Pick disease type C, severe perinatal form
EFO:0003833	Orphanet:646	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	Orphanet:216972	"" []	571047	\N	\N	EFO	2	EFO	brain neoplasm	Niemann-Pick disease type C, severe perinatal form
EFO:0005815	Orphanet:646	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:216972	"" []	571048	\N	\N	EFO	2	EFO	tauopathy	Niemann-Pick disease type C, severe perinatal form
EFO:1001380	Orphanet:646	\N	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	Orphanet:216972	"" []	571049	\N	\N	EFO	2	EFO	Niemann-Pick disease	Niemann-Pick disease type C, severe perinatal form
Orphanet:183500	Orphanet:646	\N	"" []	Orphanet:216972	"" []	571050	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Niemann-Pick disease type C, severe perinatal form
Orphanet:68385	Orphanet:646	\N	"" []	Orphanet:216972	"" []	571051	\N	\N	EFO	2	EFO	Neurometabolic disease	Niemann-Pick disease type C, severe perinatal form
Orphanet:79204	Orphanet:646	\N	"" []	Orphanet:216972	"" []	571052	\N	\N	EFO	2	EFO	Lipid storage disease	Niemann-Pick disease type C, severe perinatal form
Orphanet:98666	Orphanet:646	\N	"" []	Orphanet:216972	"" []	571053	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Niemann-Pick disease type C, severe perinatal form
Orphanet:98687	Orphanet:646	\N	"" []	Orphanet:216972	"" []	571054	\N	\N	EFO	2	EFO	Supranuclear oculomotor palsy	Niemann-Pick disease type C, severe perinatal form
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216972	"" []	1153148	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, severe perinatal form
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216972	"" []	1153149	\N	\N	EFO	3	EFO	eye disease	Niemann-Pick disease type C, severe perinatal form
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216972	"" []	1153150	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, severe perinatal form
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216972	"" []	1153151	\N	\N	EFO	3	EFO	brain disease	Niemann-Pick disease type C, severe perinatal form
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216972	"" []	1153152	\N	\N	EFO	3	EFO	neurodegenerative disease	Niemann-Pick disease type C, severe perinatal form
EFO:0000616	EFO:1001380	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216972	"" []	1153153	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, severe perinatal form
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216972	"" []	1153154	\N	\N	EFO	3	EFO	neurodegenerative disease	Niemann-Pick disease type C, severe perinatal form
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216972	"" []	1153155	\N	\N	EFO	3	EFO	brain disease	Niemann-Pick disease type C, severe perinatal form
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:216972	"" []	1153156	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Niemann-Pick disease type C, severe perinatal form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:216972	"" []	1153157	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Niemann-Pick disease type C, severe perinatal form
Orphanet:79225	Orphanet:79204	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:216972	"" []	1153158	\N	\N	EFO	3	EFO	Sphingolipidosis	Niemann-Pick disease type C, severe perinatal form
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:216972	"" []	1153159	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Niemann-Pick disease type C, severe perinatal form
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:216972	"" []	1153160	\N	\N	EFO	3	EFO	Oculomotor palsy	Niemann-Pick disease type C, severe perinatal form
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216972	"" []	2035682	\N	\N	EFO	4	EFO	disease	Niemann-Pick disease type C, severe perinatal form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216972	"" []	5997331	\N	\N	EFO	8	EFO	disease	Niemann-Pick disease type C, severe perinatal form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216972	"" []	2035684	\N	\N	EFO	4	EFO	nervous system disease	Niemann-Pick disease type C, severe perinatal form
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216972	"" []	2035685	\N	\N	EFO	4	EFO	nervous system disease	Niemann-Pick disease type C, severe perinatal form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216972	"" []	2035686	\N	\N	EFO	4	EFO	genetic disorder	Niemann-Pick disease type C, severe perinatal form
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:216972	"" []	2035687	\N	\N	EFO	4	EFO	Lysosomal disease	Niemann-Pick disease type C, severe perinatal form
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:216972	"" []	2035688	\N	\N	EFO	4	EFO	Retinal dystrophy	Niemann-Pick disease type C, severe perinatal form
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:216972	"" []	2035689	\N	\N	EFO	4	EFO	palsy	Niemann-Pick disease type C, severe perinatal form
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:216972	"" []	2035690	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Niemann-Pick disease type C, severe perinatal form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216972	"" []	6378836	\N	\N	EFO	9	EFO	disposition	Niemann-Pick disease type C, severe perinatal form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216972	"" []	4393515	\N	\N	EFO	6	EFO	disease	Niemann-Pick disease type C, severe perinatal form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216972	"" []	5997330	\N	\N	EFO	8	EFO	disease	Niemann-Pick disease type C, severe perinatal form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:216972	"" []	3186107	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Niemann-Pick disease type C, severe perinatal form
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:216972	"" []	3186108	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Niemann-Pick disease type C, severe perinatal form
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216972	"" []	3186109	\N	\N	EFO	5	EFO	nervous system disease	Niemann-Pick disease type C, severe perinatal form
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:216972	"" []	3186110	\N	\N	EFO	5	EFO	Rare genetic eye disease	Niemann-Pick disease type C, severe perinatal form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216972	"" []	6778634	\N	\N	EFO	10	EFO	material property	Niemann-Pick disease type C, severe perinatal form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216972	"" []	4393512	\N	\N	EFO	6	EFO	genetic disorder	Niemann-Pick disease type C, severe perinatal form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:216972	"" []	4393513	\N	\N	EFO	6	EFO	metabolic disease	Niemann-Pick disease type C, severe perinatal form
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:216972	"" []	4393514	\N	\N	EFO	6	EFO	Rare genetic eye disease	Niemann-Pick disease type C, severe perinatal form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216972	"" []	5411945	\N	\N	EFO	7	EFO	genetic disorder	Niemann-Pick disease type C, severe perinatal form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216972	"" []	5411946	\N	\N	EFO	7	EFO	eye disease	Niemann-Pick disease type C, severe perinatal form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216972	"" []	7029848	\N	\N	EFO	11	EFO	experimental factor	Niemann-Pick disease type C, severe perinatal form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216972	"" []	5411944	\N	\N	EFO	7	EFO	disease	Niemann-Pick disease type C, severe perinatal form
Orphanet:216975	\N	\N	"" []	Orphanet:216975	"" []	74577	\N	\N	EFO	0	EFO	Niemann-Pick disease type C, severe early infantile neurologic onset	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:646	Orphanet:216975	\N	"" []	Orphanet:216975	"" []	216601	\N	\N	EFO	1	EFO	Niemann-Pick disease type C	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0003824	Orphanet:646	\N	"Tumors or cancer of the EYE." []	Orphanet:216975	"" []	571055	\N	\N	EFO	2	EFO	eye neoplasm	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0003833	Orphanet:646	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	Orphanet:216975	"" []	571056	\N	\N	EFO	2	EFO	brain neoplasm	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0005815	Orphanet:646	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:216975	"" []	571057	\N	\N	EFO	2	EFO	tauopathy	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:1001380	Orphanet:646	\N	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	Orphanet:216975	"" []	571058	\N	\N	EFO	2	EFO	Niemann-Pick disease	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:183500	Orphanet:646	\N	"" []	Orphanet:216975	"" []	571059	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:68385	Orphanet:646	\N	"" []	Orphanet:216975	"" []	571060	\N	\N	EFO	2	EFO	Neurometabolic disease	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:79204	Orphanet:646	\N	"" []	Orphanet:216975	"" []	571061	\N	\N	EFO	2	EFO	Lipid storage disease	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:98666	Orphanet:646	\N	"" []	Orphanet:216975	"" []	571062	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:98687	Orphanet:646	\N	"" []	Orphanet:216975	"" []	571063	\N	\N	EFO	2	EFO	Supranuclear oculomotor palsy	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216975	"" []	1153161	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216975	"" []	1153162	\N	\N	EFO	3	EFO	eye disease	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216975	"" []	1153163	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216975	"" []	1153164	\N	\N	EFO	3	EFO	brain disease	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216975	"" []	1153165	\N	\N	EFO	3	EFO	neurodegenerative disease	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000616	EFO:1001380	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216975	"" []	1153166	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216975	"" []	1153167	\N	\N	EFO	3	EFO	neurodegenerative disease	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216975	"" []	1153168	\N	\N	EFO	3	EFO	brain disease	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:216975	"" []	1153169	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:216975	"" []	1153170	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:79225	Orphanet:79204	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:216975	"" []	1153171	\N	\N	EFO	3	EFO	Sphingolipidosis	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:216975	"" []	1153172	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:216975	"" []	1153173	\N	\N	EFO	3	EFO	Oculomotor palsy	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216975	"" []	2035691	\N	\N	EFO	4	EFO	disease	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216975	"" []	5997334	\N	\N	EFO	8	EFO	disease	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216975	"" []	2035693	\N	\N	EFO	4	EFO	nervous system disease	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216975	"" []	2035694	\N	\N	EFO	4	EFO	nervous system disease	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216975	"" []	2035695	\N	\N	EFO	4	EFO	genetic disorder	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:216975	"" []	2035696	\N	\N	EFO	4	EFO	Lysosomal disease	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:216975	"" []	2035697	\N	\N	EFO	4	EFO	Retinal dystrophy	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:216975	"" []	2035698	\N	\N	EFO	4	EFO	palsy	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:216975	"" []	2035699	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Niemann-Pick disease type C, severe early infantile neurologic onset
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216975	"" []	6378837	\N	\N	EFO	9	EFO	disposition	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216975	"" []	4393523	\N	\N	EFO	6	EFO	disease	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216975	"" []	5997333	\N	\N	EFO	8	EFO	disease	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:216975	"" []	3186114	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:216975	"" []	3186115	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216975	"" []	3186116	\N	\N	EFO	5	EFO	nervous system disease	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:216975	"" []	3186117	\N	\N	EFO	5	EFO	Rare genetic eye disease	Niemann-Pick disease type C, severe early infantile neurologic onset
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216975	"" []	6778635	\N	\N	EFO	10	EFO	material property	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216975	"" []	4393520	\N	\N	EFO	6	EFO	genetic disorder	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:216975	"" []	4393521	\N	\N	EFO	6	EFO	metabolic disease	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:216975	"" []	4393522	\N	\N	EFO	6	EFO	Rare genetic eye disease	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216975	"" []	5411951	\N	\N	EFO	7	EFO	genetic disorder	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216975	"" []	5411952	\N	\N	EFO	7	EFO	eye disease	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216975	"" []	7029849	\N	\N	EFO	11	EFO	experimental factor	Niemann-Pick disease type C, severe early infantile neurologic onset
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216975	"" []	5411950	\N	\N	EFO	7	EFO	disease	Niemann-Pick disease type C, severe early infantile neurologic onset
Orphanet:216978	\N	\N	"" []	Orphanet:216978	"" []	74578	\N	\N	EFO	0	EFO	Niemann-Pick disease type C, late infantile neurologic onset	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:646	Orphanet:216978	\N	"" []	Orphanet:216978	"" []	216602	\N	\N	EFO	1	EFO	Niemann-Pick disease type C	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0003824	Orphanet:646	\N	"Tumors or cancer of the EYE." []	Orphanet:216978	"" []	571064	\N	\N	EFO	2	EFO	eye neoplasm	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0003833	Orphanet:646	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	Orphanet:216978	"" []	571065	\N	\N	EFO	2	EFO	brain neoplasm	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0005815	Orphanet:646	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:216978	"" []	571066	\N	\N	EFO	2	EFO	tauopathy	Niemann-Pick disease type C, late infantile neurologic onset
EFO:1001380	Orphanet:646	\N	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	Orphanet:216978	"" []	571067	\N	\N	EFO	2	EFO	Niemann-Pick disease	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:183500	Orphanet:646	\N	"" []	Orphanet:216978	"" []	571068	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:68385	Orphanet:646	\N	"" []	Orphanet:216978	"" []	571069	\N	\N	EFO	2	EFO	Neurometabolic disease	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:79204	Orphanet:646	\N	"" []	Orphanet:216978	"" []	571070	\N	\N	EFO	2	EFO	Lipid storage disease	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:98666	Orphanet:646	\N	"" []	Orphanet:216978	"" []	571071	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:98687	Orphanet:646	\N	"" []	Orphanet:216978	"" []	571072	\N	\N	EFO	2	EFO	Supranuclear oculomotor palsy	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216978	"" []	1153174	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216978	"" []	1153175	\N	\N	EFO	3	EFO	eye disease	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216978	"" []	1153176	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216978	"" []	1153177	\N	\N	EFO	3	EFO	brain disease	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216978	"" []	1153178	\N	\N	EFO	3	EFO	neurodegenerative disease	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000616	EFO:1001380	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216978	"" []	1153179	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216978	"" []	1153180	\N	\N	EFO	3	EFO	neurodegenerative disease	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216978	"" []	1153181	\N	\N	EFO	3	EFO	brain disease	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:216978	"" []	1153182	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:216978	"" []	1153183	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:79225	Orphanet:79204	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:216978	"" []	1153184	\N	\N	EFO	3	EFO	Sphingolipidosis	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:216978	"" []	1153185	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:216978	"" []	1153186	\N	\N	EFO	3	EFO	Oculomotor palsy	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216978	"" []	2035700	\N	\N	EFO	4	EFO	disease	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216978	"" []	5997337	\N	\N	EFO	8	EFO	disease	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216978	"" []	2035702	\N	\N	EFO	4	EFO	nervous system disease	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216978	"" []	2035703	\N	\N	EFO	4	EFO	nervous system disease	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216978	"" []	2035704	\N	\N	EFO	4	EFO	genetic disorder	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:216978	"" []	2035705	\N	\N	EFO	4	EFO	Lysosomal disease	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:216978	"" []	2035706	\N	\N	EFO	4	EFO	Retinal dystrophy	Niemann-Pick disease type C, late infantile neurologic onset
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:216978	"" []	2035707	\N	\N	EFO	4	EFO	palsy	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:216978	"" []	2035708	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Niemann-Pick disease type C, late infantile neurologic onset
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216978	"" []	6378838	\N	\N	EFO	9	EFO	disposition	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216978	"" []	4393531	\N	\N	EFO	6	EFO	disease	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216978	"" []	5997336	\N	\N	EFO	8	EFO	disease	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:216978	"" []	3186121	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:216978	"" []	3186122	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216978	"" []	3186123	\N	\N	EFO	5	EFO	nervous system disease	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:216978	"" []	3186124	\N	\N	EFO	5	EFO	Rare genetic eye disease	Niemann-Pick disease type C, late infantile neurologic onset
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216978	"" []	6778636	\N	\N	EFO	10	EFO	material property	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216978	"" []	4393528	\N	\N	EFO	6	EFO	genetic disorder	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:216978	"" []	4393529	\N	\N	EFO	6	EFO	metabolic disease	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:216978	"" []	4393530	\N	\N	EFO	6	EFO	Rare genetic eye disease	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216978	"" []	5411957	\N	\N	EFO	7	EFO	genetic disorder	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216978	"" []	5411958	\N	\N	EFO	7	EFO	eye disease	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216978	"" []	7029850	\N	\N	EFO	11	EFO	experimental factor	Niemann-Pick disease type C, late infantile neurologic onset
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216978	"" []	5411956	\N	\N	EFO	7	EFO	disease	Niemann-Pick disease type C, late infantile neurologic onset
Orphanet:216981	\N	\N	"" []	Orphanet:216981	"" []	74579	\N	\N	EFO	0	EFO	Niemann-Pick disease type C, juvenile neurologic onset	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:646	Orphanet:216981	\N	"" []	Orphanet:216981	"" []	216603	\N	\N	EFO	1	EFO	Niemann-Pick disease type C	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0003824	Orphanet:646	\N	"Tumors or cancer of the EYE." []	Orphanet:216981	"" []	571073	\N	\N	EFO	2	EFO	eye neoplasm	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0003833	Orphanet:646	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	Orphanet:216981	"" []	571074	\N	\N	EFO	2	EFO	brain neoplasm	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0005815	Orphanet:646	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:216981	"" []	571075	\N	\N	EFO	2	EFO	tauopathy	Niemann-Pick disease type C, juvenile neurologic onset
EFO:1001380	Orphanet:646	\N	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	Orphanet:216981	"" []	571076	\N	\N	EFO	2	EFO	Niemann-Pick disease	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:183500	Orphanet:646	\N	"" []	Orphanet:216981	"" []	571077	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:68385	Orphanet:646	\N	"" []	Orphanet:216981	"" []	571078	\N	\N	EFO	2	EFO	Neurometabolic disease	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:79204	Orphanet:646	\N	"" []	Orphanet:216981	"" []	571079	\N	\N	EFO	2	EFO	Lipid storage disease	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:98666	Orphanet:646	\N	"" []	Orphanet:216981	"" []	571080	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:98687	Orphanet:646	\N	"" []	Orphanet:216981	"" []	571081	\N	\N	EFO	2	EFO	Supranuclear oculomotor palsy	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216981	"" []	1153187	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216981	"" []	1153188	\N	\N	EFO	3	EFO	eye disease	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216981	"" []	1153189	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216981	"" []	1153190	\N	\N	EFO	3	EFO	brain disease	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216981	"" []	1153191	\N	\N	EFO	3	EFO	neurodegenerative disease	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000616	EFO:1001380	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216981	"" []	1153192	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216981	"" []	1153193	\N	\N	EFO	3	EFO	neurodegenerative disease	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216981	"" []	1153194	\N	\N	EFO	3	EFO	brain disease	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:216981	"" []	1153195	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:216981	"" []	1153196	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:79225	Orphanet:79204	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:216981	"" []	1153197	\N	\N	EFO	3	EFO	Sphingolipidosis	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:216981	"" []	1153198	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:216981	"" []	1153199	\N	\N	EFO	3	EFO	Oculomotor palsy	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216981	"" []	2035709	\N	\N	EFO	4	EFO	disease	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216981	"" []	5997340	\N	\N	EFO	8	EFO	disease	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216981	"" []	2035711	\N	\N	EFO	4	EFO	nervous system disease	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216981	"" []	2035712	\N	\N	EFO	4	EFO	nervous system disease	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216981	"" []	2035713	\N	\N	EFO	4	EFO	genetic disorder	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:216981	"" []	2035714	\N	\N	EFO	4	EFO	Lysosomal disease	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:216981	"" []	2035715	\N	\N	EFO	4	EFO	Retinal dystrophy	Niemann-Pick disease type C, juvenile neurologic onset
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:216981	"" []	2035716	\N	\N	EFO	4	EFO	palsy	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:216981	"" []	2035717	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Niemann-Pick disease type C, juvenile neurologic onset
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216981	"" []	6378839	\N	\N	EFO	9	EFO	disposition	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216981	"" []	4393539	\N	\N	EFO	6	EFO	disease	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216981	"" []	5997339	\N	\N	EFO	8	EFO	disease	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:216981	"" []	3186128	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:216981	"" []	3186129	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216981	"" []	3186130	\N	\N	EFO	5	EFO	nervous system disease	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:216981	"" []	3186131	\N	\N	EFO	5	EFO	Rare genetic eye disease	Niemann-Pick disease type C, juvenile neurologic onset
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216981	"" []	6778637	\N	\N	EFO	10	EFO	material property	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216981	"" []	4393536	\N	\N	EFO	6	EFO	genetic disorder	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:216981	"" []	4393537	\N	\N	EFO	6	EFO	metabolic disease	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:216981	"" []	4393538	\N	\N	EFO	6	EFO	Rare genetic eye disease	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216981	"" []	5411963	\N	\N	EFO	7	EFO	genetic disorder	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216981	"" []	5411964	\N	\N	EFO	7	EFO	eye disease	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216981	"" []	7029851	\N	\N	EFO	11	EFO	experimental factor	Niemann-Pick disease type C, juvenile neurologic onset
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216981	"" []	5411962	\N	\N	EFO	7	EFO	disease	Niemann-Pick disease type C, juvenile neurologic onset
Orphanet:216986	\N	\N	"" []	Orphanet:216986	"" []	74580	\N	\N	EFO	0	EFO	Niemann-Pick disease type C, adult neurologic onset	Niemann-Pick disease type C, adult neurologic onset
Orphanet:646	Orphanet:216986	\N	"" []	Orphanet:216986	"" []	216604	\N	\N	EFO	1	EFO	Niemann-Pick disease type C	Niemann-Pick disease type C, adult neurologic onset
EFO:0003824	Orphanet:646	\N	"Tumors or cancer of the EYE." []	Orphanet:216986	"" []	571082	\N	\N	EFO	2	EFO	eye neoplasm	Niemann-Pick disease type C, adult neurologic onset
EFO:0003833	Orphanet:646	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	Orphanet:216986	"" []	571083	\N	\N	EFO	2	EFO	brain neoplasm	Niemann-Pick disease type C, adult neurologic onset
EFO:0005815	Orphanet:646	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:216986	"" []	571084	\N	\N	EFO	2	EFO	tauopathy	Niemann-Pick disease type C, adult neurologic onset
EFO:1001380	Orphanet:646	\N	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	Orphanet:216986	"" []	571085	\N	\N	EFO	2	EFO	Niemann-Pick disease	Niemann-Pick disease type C, adult neurologic onset
Orphanet:183500	Orphanet:646	\N	"" []	Orphanet:216986	"" []	571086	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Niemann-Pick disease type C, adult neurologic onset
Orphanet:68385	Orphanet:646	\N	"" []	Orphanet:216986	"" []	571087	\N	\N	EFO	2	EFO	Neurometabolic disease	Niemann-Pick disease type C, adult neurologic onset
Orphanet:79204	Orphanet:646	\N	"" []	Orphanet:216986	"" []	571088	\N	\N	EFO	2	EFO	Lipid storage disease	Niemann-Pick disease type C, adult neurologic onset
Orphanet:98666	Orphanet:646	\N	"" []	Orphanet:216986	"" []	571089	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Niemann-Pick disease type C, adult neurologic onset
Orphanet:98687	Orphanet:646	\N	"" []	Orphanet:216986	"" []	571090	\N	\N	EFO	2	EFO	Supranuclear oculomotor palsy	Niemann-Pick disease type C, adult neurologic onset
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216986	"" []	1153200	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, adult neurologic onset
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216986	"" []	1153201	\N	\N	EFO	3	EFO	eye disease	Niemann-Pick disease type C, adult neurologic onset
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216986	"" []	1153202	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, adult neurologic onset
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216986	"" []	1153203	\N	\N	EFO	3	EFO	brain disease	Niemann-Pick disease type C, adult neurologic onset
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216986	"" []	1153204	\N	\N	EFO	3	EFO	neurodegenerative disease	Niemann-Pick disease type C, adult neurologic onset
EFO:0000616	EFO:1001380	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:216986	"" []	1153205	\N	\N	EFO	3	EFO	neoplasm	Niemann-Pick disease type C, adult neurologic onset
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:216986	"" []	1153206	\N	\N	EFO	3	EFO	neurodegenerative disease	Niemann-Pick disease type C, adult neurologic onset
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:216986	"" []	1153207	\N	\N	EFO	3	EFO	brain disease	Niemann-Pick disease type C, adult neurologic onset
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:216986	"" []	1153208	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Niemann-Pick disease type C, adult neurologic onset
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:216986	"" []	1153209	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Niemann-Pick disease type C, adult neurologic onset
Orphanet:79225	Orphanet:79204	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:216986	"" []	1153210	\N	\N	EFO	3	EFO	Sphingolipidosis	Niemann-Pick disease type C, adult neurologic onset
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:216986	"" []	1153211	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Niemann-Pick disease type C, adult neurologic onset
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:216986	"" []	1153212	\N	\N	EFO	3	EFO	Oculomotor palsy	Niemann-Pick disease type C, adult neurologic onset
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216986	"" []	2035718	\N	\N	EFO	4	EFO	disease	Niemann-Pick disease type C, adult neurologic onset
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216986	"" []	5997343	\N	\N	EFO	8	EFO	disease	Niemann-Pick disease type C, adult neurologic onset
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216986	"" []	2035720	\N	\N	EFO	4	EFO	nervous system disease	Niemann-Pick disease type C, adult neurologic onset
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216986	"" []	2035721	\N	\N	EFO	4	EFO	nervous system disease	Niemann-Pick disease type C, adult neurologic onset
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216986	"" []	2035722	\N	\N	EFO	4	EFO	genetic disorder	Niemann-Pick disease type C, adult neurologic onset
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:216986	"" []	2035723	\N	\N	EFO	4	EFO	Lysosomal disease	Niemann-Pick disease type C, adult neurologic onset
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:216986	"" []	2035724	\N	\N	EFO	4	EFO	Retinal dystrophy	Niemann-Pick disease type C, adult neurologic onset
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:216986	"" []	2035725	\N	\N	EFO	4	EFO	palsy	Niemann-Pick disease type C, adult neurologic onset
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:216986	"" []	2035726	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Niemann-Pick disease type C, adult neurologic onset
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:216986	"" []	6378840	\N	\N	EFO	9	EFO	disposition	Niemann-Pick disease type C, adult neurologic onset
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216986	"" []	4393547	\N	\N	EFO	6	EFO	disease	Niemann-Pick disease type C, adult neurologic onset
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216986	"" []	5997342	\N	\N	EFO	8	EFO	disease	Niemann-Pick disease type C, adult neurologic onset
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:216986	"" []	3186135	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Niemann-Pick disease type C, adult neurologic onset
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:216986	"" []	3186136	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Niemann-Pick disease type C, adult neurologic onset
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:216986	"" []	3186137	\N	\N	EFO	5	EFO	nervous system disease	Niemann-Pick disease type C, adult neurologic onset
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:216986	"" []	3186138	\N	\N	EFO	5	EFO	Rare genetic eye disease	Niemann-Pick disease type C, adult neurologic onset
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:216986	"" []	6778638	\N	\N	EFO	10	EFO	material property	Niemann-Pick disease type C, adult neurologic onset
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216986	"" []	4393544	\N	\N	EFO	6	EFO	genetic disorder	Niemann-Pick disease type C, adult neurologic onset
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:216986	"" []	4393545	\N	\N	EFO	6	EFO	metabolic disease	Niemann-Pick disease type C, adult neurologic onset
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:216986	"" []	4393546	\N	\N	EFO	6	EFO	Rare genetic eye disease	Niemann-Pick disease type C, adult neurologic onset
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:216986	"" []	5411969	\N	\N	EFO	7	EFO	genetic disorder	Niemann-Pick disease type C, adult neurologic onset
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:216986	"" []	5411970	\N	\N	EFO	7	EFO	eye disease	Niemann-Pick disease type C, adult neurologic onset
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:216986	"" []	7029852	\N	\N	EFO	11	EFO	experimental factor	Niemann-Pick disease type C, adult neurologic onset
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:216986	"" []	5411968	\N	\N	EFO	7	EFO	disease	Niemann-Pick disease type C, adult neurologic onset
Orphanet:217	\N	\N	"" []	Orphanet:217	"" []	74581	\N	\N	EFO	0	EFO	Isolated Dandy-Walker malformation	Isolated Dandy-Walker malformation
Orphanet:269560	Orphanet:217	\N	"" []	Orphanet:217	"" []	216605	\N	\N	EFO	1	EFO	Genetic cerebellar malformation	Isolated Dandy-Walker malformation
Orphanet:269557	Orphanet:269560	\N	"" []	Orphanet:217	"" []	571091	\N	\N	EFO	2	EFO	Genetic posterior fossa malformation	Isolated Dandy-Walker malformation
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:217	"" []	1153213	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Isolated Dandy-Walker malformation
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:217	"" []	2035727	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Isolated Dandy-Walker malformation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:217	"" []	3186139	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated Dandy-Walker malformation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:217	"" []	3186140	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Isolated Dandy-Walker malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217	"" []	4393550	\N	\N	EFO	6	EFO	genetic disorder	Isolated Dandy-Walker malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217	"" []	4393551	\N	\N	EFO	6	EFO	genetic disorder	Isolated Dandy-Walker malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217	"" []	5411972	\N	\N	EFO	7	EFO	disease	Isolated Dandy-Walker malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217	"" []	6149041	\N	\N	EFO	8	EFO	disposition	Isolated Dandy-Walker malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217	"" []	6632477	\N	\N	EFO	9	EFO	material property	Isolated Dandy-Walker malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217	"" []	6925531	\N	\N	EFO	10	EFO	experimental factor	Isolated Dandy-Walker malformation
Orphanet:2170	\N	\N	"" []	Orphanet:2170	"" []	74582	\N	\N	EFO	0	EFO	Methylcobalamin deficiency type cblG	Methylcobalamin deficiency type cblG
Orphanet:183589	Orphanet:2170	\N	"" []	Orphanet:2170	"" []	216606	\N	\N	EFO	1	EFO	Genetic thrombotic microangiopathy	Methylcobalamin deficiency type cblG
Orphanet:622	Orphanet:2170	\N	"v1)." []	Orphanet:2170	"" []	216607	\N	\N	EFO	1	EFO	Homocystinuria without methylmalonic aciduria	Methylcobalamin deficiency type cblG
Orphanet:98056	Orphanet:183589	\N	"" []	Orphanet:2170	"" []	571092	\N	\N	EFO	2	EFO	Rare genetic renal disease	Methylcobalamin deficiency type cblG
Orphanet:68385	Orphanet:622	\N	"" []	Orphanet:2170	"" []	571093	\N	\N	EFO	2	EFO	Neurometabolic disease	Methylcobalamin deficiency type cblG
Orphanet:79171	Orphanet:622	\N	"" []	Orphanet:2170	"" []	571094	\N	\N	EFO	2	EFO	Disorder of cobalamin metabolism and transport	Methylcobalamin deficiency type cblG
Orphanet:79173	Orphanet:622	\N	"" []	Orphanet:2170	"" []	571095	\N	\N	EFO	2	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Methylcobalamin deficiency type cblG
Orphanet:98396	Orphanet:622	\N	"" []	Orphanet:2170	"" []	571096	\N	\N	EFO	2	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Methylcobalamin deficiency type cblG
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2170	"" []	1153214	\N	\N	EFO	3	EFO	genetic disorder	Methylcobalamin deficiency type cblG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:2170	"" []	1153215	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Methylcobalamin deficiency type cblG
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:2170	"" []	1153216	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Methylcobalamin deficiency type cblG
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:2170	"" []	1153217	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Methylcobalamin deficiency type cblG
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:2170	"" []	1153218	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Methylcobalamin deficiency type cblG
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:2170	"" []	1153219	\N	\N	EFO	3	EFO	Constitutional deficiency anemia	Methylcobalamin deficiency type cblG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2170	"" []	5181965	\N	\N	EFO	7	EFO	disease	Methylcobalamin deficiency type cblG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2170	"" []	2035729	\N	\N	EFO	4	EFO	genetic disorder	Methylcobalamin deficiency type cblG
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2170	"" []	2035730	\N	\N	EFO	4	EFO	metabolic disease	Methylcobalamin deficiency type cblG
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:2170	"" []	2035731	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Methylcobalamin deficiency type cblG
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2170	"" []	2035732	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Methylcobalamin deficiency type cblG
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:2170	"" []	2035733	\N	\N	EFO	4	EFO	Rare constitutional anemia	Methylcobalamin deficiency type cblG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2170	"" []	5817560	\N	\N	EFO	8	EFO	disposition	Methylcobalamin deficiency type cblG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2170	"" []	5181966	\N	\N	EFO	7	EFO	disease	Methylcobalamin deficiency type cblG
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:2170	"" []	3186144	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylcobalamin deficiency type cblG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2170	"" []	4393553	\N	\N	EFO	6	EFO	genetic disorder	Methylcobalamin deficiency type cblG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2170	"" []	4393554	\N	\N	EFO	6	EFO	metabolic disease	Methylcobalamin deficiency type cblG
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:2170	"" []	3186147	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Methylcobalamin deficiency type cblG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2170	"" []	6409944	\N	\N	EFO	9	EFO	material property	Methylcobalamin deficiency type cblG
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2170	"" []	4393557	\N	\N	EFO	6	EFO	genetic disorder	Methylcobalamin deficiency type cblG
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:2170	"" []	4393558	\N	\N	EFO	6	EFO	hematological system disease	Methylcobalamin deficiency type cblG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2170	"" []	6807786	\N	\N	EFO	10	EFO	experimental factor	Methylcobalamin deficiency type cblG
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2170	"" []	5411974	\N	\N	EFO	7	EFO	disease	Methylcobalamin deficiency type cblG
Orphanet:217012	\N	\N	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	74583	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 31	Spinocerebellar ataxia type 31
Orphanet:94148	Orphanet:217012	\N	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	216608	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 3	Spinocerebellar ataxia type 31
Orphanet:99	Orphanet:94148	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	571097	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 31
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	1153220	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 31
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	1153221	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 31
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	1153222	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 31
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	2035734	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 31
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	2035735	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 31
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	2035736	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 31
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	6149044	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 31
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	3186149	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 31
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	3186150	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 31
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	6409945	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 31
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	4393560	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 31
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	4393561	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 31
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	4393562	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 31
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	6807787	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 31
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	5411976	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 31
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	5411977	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 31
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	5411978	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 31
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	5411979	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 31
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	5411980	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 31
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	5411981	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 31
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	5411982	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 31
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	7048592	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 31
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	6149043	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 31
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	6149045	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 31
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	6149047	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 31
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	7190199	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 31
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217012	"Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties." []	6632479	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 31
Orphanet:217017	\N	\N	"" []	Orphanet:217017	"" []	74584	\N	\N	EFO	0	EFO	Zechi-Ceide syndrome	Zechi-Ceide syndrome
Orphanet:102283	Orphanet:217017	\N	"" []	Orphanet:217017	"" []	216609	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Zechi-Ceide syndrome
Orphanet:183763	Orphanet:217017	\N	"" []	Orphanet:217017	"" []	216610	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Zechi-Ceide syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:217017	"" []	571098	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Zechi-Ceide syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:217017	"" []	571099	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Zechi-Ceide syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:217017	"" []	1153223	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Zechi-Ceide syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:217017	"" []	1153224	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Zechi-Ceide syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217017	"" []	2035737	\N	\N	EFO	4	EFO	genetic disorder	Zechi-Ceide syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217017	"" []	2035738	\N	\N	EFO	4	EFO	genetic disorder	Zechi-Ceide syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217017	"" []	3186151	\N	\N	EFO	5	EFO	disease	Zechi-Ceide syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217017	"" []	4393563	\N	\N	EFO	6	EFO	disposition	Zechi-Ceide syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217017	"" []	5411983	\N	\N	EFO	7	EFO	material property	Zechi-Ceide syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217017	"" []	6149048	\N	\N	EFO	8	EFO	experimental factor	Zechi-Ceide syndrome
Orphanet:217023	\N	\N	"" []	Orphanet:217023	"" []	74585	\N	\N	EFO	0	EFO	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Orphanet:2134	Orphanet:217023	\N	"" []	Orphanet:217023	"" []	216611	\N	\N	EFO	1	EFO	Atypical hemolytic-uremic syndrome	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Orphanet:182043	Orphanet:2134	\N	"" []	Orphanet:217023	"" []	571100	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Orphanet:183589	Orphanet:2134	\N	"" []	Orphanet:217023	"" []	571101	\N	\N	EFO	2	EFO	Genetic thrombotic microangiopathy	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:217023	"" []	1153225	\N	\N	EFO	3	EFO	Rare constitutional anemia	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Orphanet:98056	Orphanet:183589	\N	"" []	Orphanet:217023	"" []	1153226	\N	\N	EFO	3	EFO	Rare genetic renal disease	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:217023	"" []	2035739	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217023	"" []	2035740	\N	\N	EFO	4	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217023	"" []	3186152	\N	\N	EFO	5	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:217023	"" []	3186153	\N	\N	EFO	5	EFO	hematological system disease	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217023	"" []	4393564	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217023	"" []	4393565	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217023	"" []	5181967	\N	\N	EFO	7	EFO	disposition	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217023	"" []	5997345	\N	\N	EFO	8	EFO	material property	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217023	"" []	6550788	\N	\N	EFO	9	EFO	experimental factor	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Orphanet:217026	\N	\N	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	74586	\N	\N	EFO	0	EFO	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
Orphanet:156532	Orphanet:217026	\N	"" []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	216612	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
Orphanet:183570	Orphanet:217026	\N	"" []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	216613	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
Orphanet:330206	Orphanet:217026	\N	"" []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	216614	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	571102	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	571103	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	571104	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	1153227	\N	\N	EFO	3	EFO	genetic disorder	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	1153228	\N	\N	EFO	3	EFO	heart disease	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	2035743	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	1153230	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	3000205	\N	\N	EFO	5	EFO	disease	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	2035742	\N	\N	EFO	4	EFO	cardiovascular disease	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	4133524	\N	\N	EFO	6	EFO	disposition	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	3186156	\N	\N	EFO	5	EFO	disease	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	5181968	\N	\N	EFO	7	EFO	material property	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217026	"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." []	5997346	\N	\N	EFO	8	EFO	experimental factor	Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
Orphanet:217031	\N	\N	"" []	Orphanet:217031	"" []	74587	\N	\N	EFO	0	EFO	Obesity due to MC3R deficiency	Obesity due to MC3R deficiency
Orphanet:98267	Orphanet:217031	\N	"" []	Orphanet:217031	"" []	216615	\N	\N	EFO	1	EFO	Genetic non-syndromic obesity	Obesity due to MC3R deficiency
Orphanet:77828	Orphanet:98267	\N	"" []	Orphanet:217031	"" []	571105	\N	\N	EFO	2	EFO	Genetic obesity	Obesity due to MC3R deficiency
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:217031	"" []	1153231	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Obesity due to MC3R deficiency
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:217031	"" []	1153232	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Obesity due to MC3R deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217031	"" []	2035744	\N	\N	EFO	4	EFO	genetic disorder	Obesity due to MC3R deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:217031	"" []	2035745	\N	\N	EFO	4	EFO	endocrine system disease	Obesity due to MC3R deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:217031	"" []	2035746	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Obesity due to MC3R deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217031	"" []	4393569	\N	\N	EFO	6	EFO	disease	Obesity due to MC3R deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217031	"" []	3186158	\N	\N	EFO	5	EFO	disease	Obesity due to MC3R deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217031	"" []	3186159	\N	\N	EFO	5	EFO	genetic disorder	Obesity due to MC3R deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217031	"" []	5181969	\N	\N	EFO	7	EFO	disposition	Obesity due to MC3R deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217031	"" []	5997347	\N	\N	EFO	8	EFO	material property	Obesity due to MC3R deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217031	"" []	6550789	\N	\N	EFO	9	EFO	experimental factor	Obesity due to MC3R deficiency
Orphanet:217046	\N	\N	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	74588	\N	\N	EFO	0	EFO	Autosomal recessive childhood-onset cortical cataract	Autosomal recessive childhood-onset cortical cataract
Orphanet:217052	Orphanet:217046	\N	"" []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	216616	\N	\N	EFO	1	EFO	Early-onset non-syndromic cataract	Autosomal recessive childhood-onset cortical cataract
Orphanet:217049	Orphanet:217052	\N	"" []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	571106	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Autosomal recessive childhood-onset cortical cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	1153233	\N	\N	EFO	3	EFO	Rare cataract	Autosomal recessive childhood-onset cortical cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	2035747	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Autosomal recessive childhood-onset cortical cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	3186160	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive childhood-onset cortical cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	4393570	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive childhood-onset cortical cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	4393571	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive childhood-onset cortical cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	5411987	\N	\N	EFO	7	EFO	disease	Autosomal recessive childhood-onset cortical cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	5411988	\N	\N	EFO	7	EFO	disease	Autosomal recessive childhood-onset cortical cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	6149051	\N	\N	EFO	8	EFO	disposition	Autosomal recessive childhood-onset cortical cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	6632480	\N	\N	EFO	9	EFO	material property	Autosomal recessive childhood-onset cortical cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217046	"Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." []	6925532	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive childhood-onset cortical cataract
Orphanet:217049	\N	\N	"" []	Orphanet:217049	"" []	74589	\N	\N	EFO	0	EFO	Rare non-syndromic cataract	Rare non-syndromic cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:217049	"" []	216617	\N	\N	EFO	1	EFO	Rare cataract	Rare non-syndromic cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:217049	"" []	571107	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Rare non-syndromic cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:217049	"" []	1153234	\N	\N	EFO	3	EFO	Rare genetic eye disease	Rare non-syndromic cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217049	"" []	2035748	\N	\N	EFO	4	EFO	genetic disorder	Rare non-syndromic cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:217049	"" []	2035749	\N	\N	EFO	4	EFO	eye disease	Rare non-syndromic cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217049	"" []	3186161	\N	\N	EFO	5	EFO	disease	Rare non-syndromic cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217049	"" []	3186162	\N	\N	EFO	5	EFO	disease	Rare non-syndromic cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217049	"" []	4393572	\N	\N	EFO	6	EFO	disposition	Rare non-syndromic cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217049	"" []	5411989	\N	\N	EFO	7	EFO	material property	Rare non-syndromic cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217049	"" []	6149052	\N	\N	EFO	8	EFO	experimental factor	Rare non-syndromic cataract
Orphanet:217052	\N	\N	"" []	Orphanet:217052	"" []	74590	\N	\N	EFO	0	EFO	Early-onset non-syndromic cataract	Early-onset non-syndromic cataract
Orphanet:217049	Orphanet:217052	\N	"" []	Orphanet:217052	"" []	216618	\N	\N	EFO	1	EFO	Rare non-syndromic cataract	Early-onset non-syndromic cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:217052	"" []	571108	\N	\N	EFO	2	EFO	Rare cataract	Early-onset non-syndromic cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:217052	"" []	1153235	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Early-onset non-syndromic cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:217052	"" []	2035750	\N	\N	EFO	4	EFO	Rare genetic eye disease	Early-onset non-syndromic cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217052	"" []	3186163	\N	\N	EFO	5	EFO	genetic disorder	Early-onset non-syndromic cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:217052	"" []	3186164	\N	\N	EFO	5	EFO	eye disease	Early-onset non-syndromic cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217052	"" []	4393573	\N	\N	EFO	6	EFO	disease	Early-onset non-syndromic cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217052	"" []	4393574	\N	\N	EFO	6	EFO	disease	Early-onset non-syndromic cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217052	"" []	5411990	\N	\N	EFO	7	EFO	disposition	Early-onset non-syndromic cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217052	"" []	6149053	\N	\N	EFO	8	EFO	material property	Early-onset non-syndromic cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217052	"" []	6632481	\N	\N	EFO	9	EFO	experimental factor	Early-onset non-syndromic cataract
Orphanet:217055	\N	\N	"" []	Orphanet:217055	"" []	74591	\N	\N	EFO	0	EFO	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Orphanet:268337	Orphanet:217055	\N	"" []	Orphanet:217055	"" []	216619	\N	\N	EFO	1	EFO	Autosomal recessive intermediate Charcot-Marie-Tooth disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Orphanet:140450	Orphanet:268337	\N	"" []	Orphanet:217055	"" []	571109	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Orphanet:166	Orphanet:268337	\N	"" []	Orphanet:217055	"" []	571110	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:217055	"" []	1153236	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:217055	"" []	1153237	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:217055	"" []	1153238	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:217055	"" []	2035751	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:217055	"" []	2035752	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:217055	"" []	3186165	\N	\N	EFO	5	EFO	nervous system disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217055	"" []	3186166	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217055	"" []	4393575	\N	\N	EFO	6	EFO	disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217055	"" []	4393576	\N	\N	EFO	6	EFO	disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217055	"" []	5411991	\N	\N	EFO	7	EFO	disposition	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217055	"" []	6149054	\N	\N	EFO	8	EFO	material property	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217055	"" []	6632482	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Orphanet:217059	\N	\N	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	74592	\N	\N	EFO	0	EFO	Isolated congenital digital clubbing	Isolated congenital digital clubbing
Orphanet:294949	Orphanet:217059	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	216620	\N	\N	EFO	1	EFO	Joint formation defects	Isolated congenital digital clubbing
Orphanet:79369	Orphanet:217059	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	216621	\N	\N	EFO	1	EFO	Isolated nail anomaly	Isolated congenital digital clubbing
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	571111	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Isolated congenital digital clubbing
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	571112	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Isolated congenital digital clubbing
Orphanet:183454	Orphanet:79369	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	571113	\N	\N	EFO	2	EFO	Genetic nail anomaly	Isolated congenital digital clubbing
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	1153239	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Isolated congenital digital clubbing
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	1153240	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Isolated congenital digital clubbing
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	1153241	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Isolated congenital digital clubbing
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	2035753	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated congenital digital clubbing
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	2035754	\N	\N	EFO	4	EFO	Rare genetic bone disease	Isolated congenital digital clubbing
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	2035755	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Isolated congenital digital clubbing
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	2035756	\N	\N	EFO	4	EFO	Rare genetic skin disease	Isolated congenital digital clubbing
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	4393579	\N	\N	EFO	6	EFO	genetic disorder	Isolated congenital digital clubbing
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	3186168	\N	\N	EFO	5	EFO	genetic disorder	Isolated congenital digital clubbing
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	3186169	\N	\N	EFO	5	EFO	bone disease	Isolated congenital digital clubbing
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	3186170	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated congenital digital clubbing
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	3186171	\N	\N	EFO	5	EFO	genetic disorder	Isolated congenital digital clubbing
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	3186172	\N	\N	EFO	5	EFO	skin disease	Isolated congenital digital clubbing
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	5181970	\N	\N	EFO	7	EFO	disease	Isolated congenital digital clubbing
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	4393578	\N	\N	EFO	6	EFO	skeletal system disease	Isolated congenital digital clubbing
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	4393580	\N	\N	EFO	6	EFO	disease	Isolated congenital digital clubbing
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	5997348	\N	\N	EFO	8	EFO	disposition	Isolated congenital digital clubbing
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	5411993	\N	\N	EFO	7	EFO	disease	Isolated congenital digital clubbing
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	6550790	\N	\N	EFO	9	EFO	material property	Isolated congenital digital clubbing
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217059	"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." []	6889121	\N	\N	EFO	10	EFO	experimental factor	Isolated congenital digital clubbing
Orphanet:217085	\N	\N	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	74593	\N	\N	EFO	0	EFO	Mucopolysaccharidosis type 2, severe form	Mucopolysaccharidosis type 2, severe form
Orphanet:580	Orphanet:217085	\N	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	216622	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 2	Mucopolysaccharidosis type 2, severe form
Orphanet:182076	Orphanet:580	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	571114	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Mucopolysaccharidosis type 2, severe form
Orphanet:217581	Orphanet:580	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	571115	\N	\N	EFO	2	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Mucopolysaccharidosis type 2, severe form
Orphanet:68385	Orphanet:580	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	571116	\N	\N	EFO	2	EFO	Neurometabolic disease	Mucopolysaccharidosis type 2, severe form
Orphanet:79213	Orphanet:580	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	571117	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis type 2, severe form
Orphanet:79388	Orphanet:580	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	571118	\N	\N	EFO	2	EFO	Mucopolysaccharidosis with skin involvement	Mucopolysaccharidosis type 2, severe form
Orphanet:93448	Orphanet:580	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	571119	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Mucopolysaccharidosis type 2, severe form
Orphanet:98578	Orphanet:580	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	571120	\N	\N	EFO	2	EFO	Ptosis	Mucopolysaccharidosis type 2, severe form
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	1153242	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Mucopolysaccharidosis type 2, severe form
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	1153243	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Mucopolysaccharidosis type 2, severe form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	1153244	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Mucopolysaccharidosis type 2, severe form
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	1153245	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis type 2, severe form
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	1153246	\N	\N	EFO	3	EFO	Lysosomal disease	Mucopolysaccharidosis type 2, severe form
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	1153247	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis type 2, severe form
Orphanet:79387	Orphanet:79388	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	1153248	\N	\N	EFO	3	EFO	Metabolic disease with skin involvement	Mucopolysaccharidosis type 2, severe form
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	1153249	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mucopolysaccharidosis type 2, severe form
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	1153250	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Mucopolysaccharidosis type 2, severe form
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	2035757	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Mucopolysaccharidosis type 2, severe form
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	2035758	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Mucopolysaccharidosis type 2, severe form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	5411994	\N	\N	EFO	7	EFO	genetic disorder	Mucopolysaccharidosis type 2, severe form
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	2035760	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis type 2, severe form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	2035761	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mucopolysaccharidosis type 2, severe form
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	2035762	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 2, severe form
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	2035763	\N	\N	EFO	4	EFO	Rare genetic skin disease	Mucopolysaccharidosis type 2, severe form
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	2035764	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 2, severe form
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	2035765	\N	\N	EFO	4	EFO	bone disease	Mucopolysaccharidosis type 2, severe form
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	2035766	\N	\N	EFO	4	EFO	Rare palpebral disease	Mucopolysaccharidosis type 2, severe form
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	3186173	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Mucopolysaccharidosis type 2, severe form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	3186174	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 2, severe form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	3186175	\N	\N	EFO	5	EFO	heart disease	Mucopolysaccharidosis type 2, severe form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	5817561	\N	\N	EFO	8	EFO	disease	Mucopolysaccharidosis type 2, severe form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	3186177	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 2, severe form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	3186178	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 2, severe form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	3186179	\N	\N	EFO	5	EFO	metabolic disease	Mucopolysaccharidosis type 2, severe form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	5411997	\N	\N	EFO	7	EFO	genetic disorder	Mucopolysaccharidosis type 2, severe form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	5411998	\N	\N	EFO	7	EFO	eye disease	Mucopolysaccharidosis type 2, severe form
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	3186182	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 2, severe form
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	3186183	\N	\N	EFO	5	EFO	skin disease	Mucopolysaccharidosis type 2, severe form
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	3186184	\N	\N	EFO	5	EFO	skeletal system disease	Mucopolysaccharidosis type 2, severe form
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	3186185	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Mucopolysaccharidosis type 2, severe form
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	4393581	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Mucopolysaccharidosis type 2, severe form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	4393583	\N	\N	EFO	6	EFO	cardiovascular disease	Mucopolysaccharidosis type 2, severe form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	6409946	\N	\N	EFO	9	EFO	disposition	Mucopolysaccharidosis type 2, severe form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	4393585	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 2, severe form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	5876967	\N	\N	EFO	8	EFO	disease	Mucopolysaccharidosis type 2, severe form
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	4393587	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 2, severe form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	4393588	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 2, severe form
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	4393589	\N	\N	EFO	6	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 2, severe form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	5411995	\N	\N	EFO	7	EFO	disease	Mucopolysaccharidosis type 2, severe form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	6807788	\N	\N	EFO	10	EFO	material property	Mucopolysaccharidosis type 2, severe form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217085	"Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." []	7048593	\N	\N	EFO	11	EFO	experimental factor	Mucopolysaccharidosis type 2, severe form
Orphanet:217093	\N	\N	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	74594	\N	\N	EFO	0	EFO	Mucopolysaccharidosis type 2, attenuated form	Mucopolysaccharidosis type 2, attenuated form
Orphanet:580	Orphanet:217093	\N	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	216623	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 2	Mucopolysaccharidosis type 2, attenuated form
Orphanet:182076	Orphanet:580	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	571121	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Mucopolysaccharidosis type 2, attenuated form
Orphanet:217581	Orphanet:580	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	571122	\N	\N	EFO	2	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Mucopolysaccharidosis type 2, attenuated form
Orphanet:68385	Orphanet:580	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	571123	\N	\N	EFO	2	EFO	Neurometabolic disease	Mucopolysaccharidosis type 2, attenuated form
Orphanet:79213	Orphanet:580	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	571124	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis type 2, attenuated form
Orphanet:79388	Orphanet:580	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	571125	\N	\N	EFO	2	EFO	Mucopolysaccharidosis with skin involvement	Mucopolysaccharidosis type 2, attenuated form
Orphanet:93448	Orphanet:580	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	571126	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Mucopolysaccharidosis type 2, attenuated form
Orphanet:98578	Orphanet:580	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	571127	\N	\N	EFO	2	EFO	Ptosis	Mucopolysaccharidosis type 2, attenuated form
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	1153251	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Mucopolysaccharidosis type 2, attenuated form
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	1153252	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Mucopolysaccharidosis type 2, attenuated form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	1153253	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Mucopolysaccharidosis type 2, attenuated form
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	1153254	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis type 2, attenuated form
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	1153255	\N	\N	EFO	3	EFO	Lysosomal disease	Mucopolysaccharidosis type 2, attenuated form
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	1153256	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis type 2, attenuated form
Orphanet:79387	Orphanet:79388	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	1153257	\N	\N	EFO	3	EFO	Metabolic disease with skin involvement	Mucopolysaccharidosis type 2, attenuated form
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	1153258	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mucopolysaccharidosis type 2, attenuated form
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	1153259	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Mucopolysaccharidosis type 2, attenuated form
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	2035767	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Mucopolysaccharidosis type 2, attenuated form
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	2035768	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Mucopolysaccharidosis type 2, attenuated form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	5411999	\N	\N	EFO	7	EFO	genetic disorder	Mucopolysaccharidosis type 2, attenuated form
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	2035770	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis type 2, attenuated form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	2035771	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mucopolysaccharidosis type 2, attenuated form
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	2035772	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 2, attenuated form
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	2035773	\N	\N	EFO	4	EFO	Rare genetic skin disease	Mucopolysaccharidosis type 2, attenuated form
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	2035774	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 2, attenuated form
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	2035775	\N	\N	EFO	4	EFO	bone disease	Mucopolysaccharidosis type 2, attenuated form
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	2035776	\N	\N	EFO	4	EFO	Rare palpebral disease	Mucopolysaccharidosis type 2, attenuated form
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	3186186	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Mucopolysaccharidosis type 2, attenuated form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	3186187	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 2, attenuated form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	3186188	\N	\N	EFO	5	EFO	heart disease	Mucopolysaccharidosis type 2, attenuated form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	5817562	\N	\N	EFO	8	EFO	disease	Mucopolysaccharidosis type 2, attenuated form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	3186190	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 2, attenuated form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	3186191	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 2, attenuated form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	3186192	\N	\N	EFO	5	EFO	metabolic disease	Mucopolysaccharidosis type 2, attenuated form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	5412002	\N	\N	EFO	7	EFO	genetic disorder	Mucopolysaccharidosis type 2, attenuated form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	5412003	\N	\N	EFO	7	EFO	eye disease	Mucopolysaccharidosis type 2, attenuated form
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	3186195	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 2, attenuated form
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	3186196	\N	\N	EFO	5	EFO	skin disease	Mucopolysaccharidosis type 2, attenuated form
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	3186197	\N	\N	EFO	5	EFO	skeletal system disease	Mucopolysaccharidosis type 2, attenuated form
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	3186198	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Mucopolysaccharidosis type 2, attenuated form
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	4393590	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Mucopolysaccharidosis type 2, attenuated form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	4393592	\N	\N	EFO	6	EFO	cardiovascular disease	Mucopolysaccharidosis type 2, attenuated form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	6409947	\N	\N	EFO	9	EFO	disposition	Mucopolysaccharidosis type 2, attenuated form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	4393594	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 2, attenuated form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	5876968	\N	\N	EFO	8	EFO	disease	Mucopolysaccharidosis type 2, attenuated form
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	4393596	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 2, attenuated form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	4393597	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 2, attenuated form
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	4393598	\N	\N	EFO	6	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 2, attenuated form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	5412000	\N	\N	EFO	7	EFO	disease	Mucopolysaccharidosis type 2, attenuated form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	6807789	\N	\N	EFO	10	EFO	material property	Mucopolysaccharidosis type 2, attenuated form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217093	"Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." []	7048594	\N	\N	EFO	11	EFO	experimental factor	Mucopolysaccharidosis type 2, attenuated form
Orphanet:2172	\N	\N	"" []	Orphanet:2172	"" []	74595	\N	\N	EFO	0	EFO	Microcephaly - glomerulonephritis - marfanoid habitus	Microcephaly - glomerulonephritis - marfanoid habitus
Orphanet:102283	Orphanet:2172	\N	"" []	Orphanet:2172	"" []	216624	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephaly - glomerulonephritis - marfanoid habitus
Orphanet:183763	Orphanet:2172	\N	"" []	Orphanet:2172	"" []	216625	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephaly - glomerulonephritis - marfanoid habitus
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2172	"" []	571128	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly - glomerulonephritis - marfanoid habitus
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2172	"" []	571129	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microcephaly - glomerulonephritis - marfanoid habitus
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2172	"" []	1153260	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - glomerulonephritis - marfanoid habitus
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2172	"" []	1153261	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephaly - glomerulonephritis - marfanoid habitus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2172	"" []	2035777	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - glomerulonephritis - marfanoid habitus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2172	"" []	2035778	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - glomerulonephritis - marfanoid habitus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2172	"" []	3186199	\N	\N	EFO	5	EFO	disease	Microcephaly - glomerulonephritis - marfanoid habitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2172	"" []	4393599	\N	\N	EFO	6	EFO	disposition	Microcephaly - glomerulonephritis - marfanoid habitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2172	"" []	5412004	\N	\N	EFO	7	EFO	material property	Microcephaly - glomerulonephritis - marfanoid habitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2172	"" []	6149060	\N	\N	EFO	8	EFO	experimental factor	Microcephaly - glomerulonephritis - marfanoid habitus
Orphanet:217266	\N	\N	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	74596	\N	\N	EFO	0	EFO	BNAR syndrome	BNAR syndrome
Orphanet:117573	Orphanet:217266	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	216626	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	BNAR syndrome
Orphanet:330206	Orphanet:217266	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	216627	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	BNAR syndrome
Orphanet:93547	Orphanet:217266	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	216628	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	BNAR syndrome
Orphanet:96333	Orphanet:217266	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	216629	\N	\N	EFO	1	EFO	Rare otorhinolaryngological malformation	BNAR syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	571130	\N	\N	EFO	2	EFO	Anorectal malformation	BNAR syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	571131	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	BNAR syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	571132	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	BNAR syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	571133	\N	\N	EFO	2	EFO	Genetic head and neck malformation	BNAR syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	1153262	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	BNAR syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	1153263	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	BNAR syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	1153264	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	BNAR syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	1153265	\N	\N	EFO	3	EFO	Rare genetic renal disease	BNAR syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	1153266	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	BNAR syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	2035779	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	BNAR syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	3186200	\N	\N	EFO	5	EFO	genetic disorder	BNAR syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	2035781	\N	\N	EFO	4	EFO	genetic disorder	BNAR syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	4133525	\N	\N	EFO	6	EFO	disease	BNAR syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	5181973	\N	\N	EFO	7	EFO	disposition	BNAR syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	5997351	\N	\N	EFO	8	EFO	material property	BNAR syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217266	"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." []	6550793	\N	\N	EFO	9	EFO	experimental factor	BNAR syndrome
Orphanet:217330	\N	\N	"Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." []	Orphanet:217330	"Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." []	74597	\N	\N	EFO	0	EFO	Hyperuricemia - anemia - renal failure	Hyperuricemia - anemia - renal failure
Orphanet:183592	Orphanet:217330	\N	"" []	Orphanet:217330	"Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." []	216630	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Hyperuricemia - anemia - renal failure
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:217330	"Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." []	571134	\N	\N	EFO	2	EFO	Rare genetic renal disease	Hyperuricemia - anemia - renal failure
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217330	"Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." []	1153267	\N	\N	EFO	3	EFO	genetic disorder	Hyperuricemia - anemia - renal failure
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217330	"Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." []	2035782	\N	\N	EFO	4	EFO	disease	Hyperuricemia - anemia - renal failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217330	"Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." []	3186202	\N	\N	EFO	5	EFO	disposition	Hyperuricemia - anemia - renal failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217330	"Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." []	4393601	\N	\N	EFO	6	EFO	material property	Hyperuricemia - anemia - renal failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217330	"Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." []	5412006	\N	\N	EFO	7	EFO	experimental factor	Hyperuricemia - anemia - renal failure
Orphanet:217335	\N	\N	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	74598	\N	\N	EFO	0	EFO	MACS syndrome	MACS syndrome
Orphanet:209	Orphanet:217335	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	216631	\N	\N	EFO	1	EFO	Cutis laxa	MACS syndrome
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	571135	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	MACS syndrome
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	571136	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	MACS syndrome
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	571137	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	MACS syndrome
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	571138	\N	\N	EFO	2	EFO	Congenital entropion	MACS syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	1153268	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	MACS syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	1153269	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	MACS syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	1153270	\N	\N	EFO	3	EFO	Genetic dermis disorder	MACS syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	1153271	\N	\N	EFO	3	EFO	Eyelids malposition disorder	MACS syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	2035783	\N	\N	EFO	4	EFO	genetic disorder	MACS syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	2035784	\N	\N	EFO	4	EFO	Rare genetic skin disease	MACS syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	2035785	\N	\N	EFO	4	EFO	Rare palpebral disease	MACS syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	6149063	\N	\N	EFO	8	EFO	disease	MACS syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	3186204	\N	\N	EFO	5	EFO	genetic disorder	MACS syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	3186205	\N	\N	EFO	5	EFO	skin disease	MACS syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	3186206	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	MACS syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	6409948	\N	\N	EFO	9	EFO	disposition	MACS syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	4393604	\N	\N	EFO	6	EFO	disease	MACS syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	4393605	\N	\N	EFO	6	EFO	Rare genetic eye disease	MACS syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	6807790	\N	\N	EFO	10	EFO	material property	MACS syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	5412008	\N	\N	EFO	7	EFO	genetic disorder	MACS syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	5412009	\N	\N	EFO	7	EFO	eye disease	MACS syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	7048595	\N	\N	EFO	11	EFO	experimental factor	MACS syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217335	"RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." []	6149064	\N	\N	EFO	8	EFO	disease	MACS syndrome
Orphanet:217340	\N	\N	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	74599	\N	\N	EFO	0	EFO	17q21.31 microduplication  syndrome	17q21.31 microduplication  syndrome
Orphanet:102283	Orphanet:217340	\N	"" []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	216632	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	17q21.31 microduplication  syndrome
Orphanet:262968	Orphanet:217340	\N	"" []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	216633	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 17	17q21.31 microduplication  syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	571139	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	17q21.31 microduplication  syndrome
Orphanet:262677	Orphanet:262968	\N	"" []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	571140	\N	\N	EFO	2	EFO	Partial duplication of chromosome 17	17q21.31 microduplication  syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	1153272	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	17q21.31 microduplication  syndrome
Orphanet:98132	Orphanet:262677	\N	"" []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	1153273	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	17q21.31 microduplication  syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	2035786	\N	\N	EFO	4	EFO	genetic disorder	17q21.31 microduplication  syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	2035787	\N	\N	EFO	4	EFO	Autosomal trisomy	17q21.31 microduplication  syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	6149066	\N	\N	EFO	8	EFO	disease	17q21.31 microduplication  syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	3186208	\N	\N	EFO	5	EFO	Autosomal anomaly	17q21.31 microduplication  syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	6409949	\N	\N	EFO	9	EFO	disposition	17q21.31 microduplication  syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	4393607	\N	\N	EFO	6	EFO	Chromosomal anomaly	17q21.31 microduplication  syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	6807791	\N	\N	EFO	10	EFO	material property	17q21.31 microduplication  syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	5412011	\N	\N	EFO	7	EFO	genetic disorder	17q21.31 microduplication  syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217340	"The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." []	7048596	\N	\N	EFO	11	EFO	experimental factor	17q21.31 microduplication  syndrome
Orphanet:217346	\N	\N	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	74600	\N	\N	EFO	0	EFO	19q13.11 microdeletion syndrome	19q13.11 microdeletion syndrome
Orphanet:102283	Orphanet:217346	\N	"" []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	216634	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	19q13.11 microdeletion syndrome
Orphanet:262155	Orphanet:217346	\N	"" []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	216635	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 19	19q13.11 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	571141	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	19q13.11 microdeletion syndrome
Orphanet:261841	Orphanet:262155	\N	"" []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	571142	\N	\N	EFO	2	EFO	Partial deletion of chromosome 19	19q13.11 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	1153274	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	19q13.11 microdeletion syndrome
Orphanet:98142	Orphanet:261841	\N	"" []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	1153275	\N	\N	EFO	3	EFO	Partial autosomal monosomy	19q13.11 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	2035788	\N	\N	EFO	4	EFO	genetic disorder	19q13.11 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	2035789	\N	\N	EFO	4	EFO	Autosomal monosomy	19q13.11 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	6149068	\N	\N	EFO	8	EFO	disease	19q13.11 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	3186210	\N	\N	EFO	5	EFO	Autosomal anomaly	19q13.11 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	6409950	\N	\N	EFO	9	EFO	disposition	19q13.11 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	4393609	\N	\N	EFO	6	EFO	Chromosomal anomaly	19q13.11 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	6807792	\N	\N	EFO	10	EFO	material property	19q13.11 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	5412013	\N	\N	EFO	7	EFO	genetic disorder	19q13.11 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217346	"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." []	7048597	\N	\N	EFO	11	EFO	experimental factor	19q13.11 microdeletion syndrome
Orphanet:217371	\N	\N	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	74601	\N	\N	EFO	0	EFO	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Orphanet:101940	Orphanet:217371	\N	"" []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	216636	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Orphanet:35696	Orphanet:217371	\N	"" []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	216637	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	571143	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	571144	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	1153276	\N	\N	EFO	3	EFO	digestive system disease	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	1153277	\N	\N	EFO	3	EFO	genetic disorder	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	1153278	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	2035790	\N	\N	EFO	4	EFO	disease	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	6149069	\N	\N	EFO	8	EFO	disease	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	2035792	\N	\N	EFO	4	EFO	Mitochondrial disease	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	6378841	\N	\N	EFO	9	EFO	disposition	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	3186212	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	3186213	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	6778639	\N	\N	EFO	10	EFO	material property	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	4393611	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	4393612	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	7029853	\N	\N	EFO	11	EFO	experimental factor	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	5412015	\N	\N	EFO	7	EFO	genetic disorder	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	5412016	\N	\N	EFO	7	EFO	genetic disorder	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	5412017	\N	\N	EFO	7	EFO	metabolic disease	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217371	"Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." []	6149070	\N	\N	EFO	8	EFO	disease	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Orphanet:217377	\N	\N	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	74602	\N	\N	EFO	0	EFO	Microduplication Xp11.22-p11.23 syndrome	Microduplication Xp11.22-p11.23 syndrome
Orphanet:102283	Orphanet:217377	\N	"" []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	216638	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microduplication Xp11.22-p11.23 syndrome
Orphanet:263775	Orphanet:217377	\N	"" []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	216639	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome X	Microduplication Xp11.22-p11.23 syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	571145	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microduplication Xp11.22-p11.23 syndrome
Orphanet:263768	Orphanet:263775	\N	"" []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	571146	\N	\N	EFO	2	EFO	Partial duplication of chromosome X	Microduplication Xp11.22-p11.23 syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	1153279	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microduplication Xp11.22-p11.23 syndrome
Orphanet:98159	Orphanet:263768	\N	"" []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	1153280	\N	\N	EFO	3	EFO	Chromosome X structural anomaly	Microduplication Xp11.22-p11.23 syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	2035793	\N	\N	EFO	4	EFO	genetic disorder	Microduplication Xp11.22-p11.23 syndrome
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	2035794	\N	\N	EFO	4	EFO	Gonosome structural anomaly	Microduplication Xp11.22-p11.23 syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	6149072	\N	\N	EFO	8	EFO	disease	Microduplication Xp11.22-p11.23 syndrome
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	3186215	\N	\N	EFO	5	EFO	Gonosome anomaly	Microduplication Xp11.22-p11.23 syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	6409951	\N	\N	EFO	9	EFO	disposition	Microduplication Xp11.22-p11.23 syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	4393614	\N	\N	EFO	6	EFO	Chromosomal anomaly	Microduplication Xp11.22-p11.23 syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	6807793	\N	\N	EFO	10	EFO	material property	Microduplication Xp11.22-p11.23 syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	5412019	\N	\N	EFO	7	EFO	genetic disorder	Microduplication Xp11.22-p11.23 syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217377	" recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." []	7048598	\N	\N	EFO	11	EFO	experimental factor	Microduplication Xp11.22-p11.23 syndrome
Orphanet:217382	\N	\N	"" []	Orphanet:217382	"" []	74603	\N	\N	EFO	0	EFO	Neurodegenerative syndrome due to cerebral folate transport deficiency	Neurodegenerative syndrome due to cerebral folate transport deficiency
Orphanet:183500	Orphanet:217382	\N	"" []	Orphanet:217382	"" []	216640	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Neurodegenerative syndrome due to cerebral folate transport deficiency
Orphanet:285657	Orphanet:217382	\N	"" []	Orphanet:217382	"" []	216641	\N	\N	EFO	1	EFO	Disorder of folate metabolism and transport	Neurodegenerative syndrome due to cerebral folate transport deficiency
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:217382	"" []	571147	\N	\N	EFO	2	EFO	neurodegenerative disease	Neurodegenerative syndrome due to cerebral folate transport deficiency
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:217382	"" []	571148	\N	\N	EFO	2	EFO	brain disease	Neurodegenerative syndrome due to cerebral folate transport deficiency
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:217382	"" []	571149	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neurodegenerative syndrome due to cerebral folate transport deficiency
Orphanet:309827	Orphanet:285657	\N	"" []	Orphanet:217382	"" []	571150	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Neurodegenerative syndrome due to cerebral folate transport deficiency
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:217382	"" []	1153281	\N	\N	EFO	3	EFO	nervous system disease	Neurodegenerative syndrome due to cerebral folate transport deficiency
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:217382	"" []	1153282	\N	\N	EFO	3	EFO	nervous system disease	Neurodegenerative syndrome due to cerebral folate transport deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217382	"" []	1153283	\N	\N	EFO	3	EFO	genetic disorder	Neurodegenerative syndrome due to cerebral folate transport deficiency
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:217382	"" []	1153284	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Neurodegenerative syndrome due to cerebral folate transport deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217382	"" []	2035795	\N	\N	EFO	4	EFO	disease	Neurodegenerative syndrome due to cerebral folate transport deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217382	"" []	4393616	\N	\N	EFO	6	EFO	disease	Neurodegenerative syndrome due to cerebral folate transport deficiency
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:217382	"" []	2035797	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Neurodegenerative syndrome due to cerebral folate transport deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217382	"" []	5059754	\N	\N	EFO	7	EFO	disposition	Neurodegenerative syndrome due to cerebral folate transport deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217382	"" []	3186217	\N	\N	EFO	5	EFO	genetic disorder	Neurodegenerative syndrome due to cerebral folate transport deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:217382	"" []	3186218	\N	\N	EFO	5	EFO	metabolic disease	Neurodegenerative syndrome due to cerebral folate transport deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217382	"" []	5876969	\N	\N	EFO	8	EFO	material property	Neurodegenerative syndrome due to cerebral folate transport deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217382	"" []	4393617	\N	\N	EFO	6	EFO	disease	Neurodegenerative syndrome due to cerebral folate transport deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217382	"" []	6470175	\N	\N	EFO	9	EFO	experimental factor	Neurodegenerative syndrome due to cerebral folate transport deficiency
Orphanet:217385	\N	\N	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	74604	\N	\N	EFO	0	EFO	17p13.3 microduplication syndrome	17p13.3 microduplication syndrome
Orphanet:102283	Orphanet:217385	\N	"" []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	216642	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	17p13.3 microduplication syndrome
Orphanet:262803	Orphanet:217385	\N	"" []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	216643	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 17	17p13.3 microduplication syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	571151	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	17p13.3 microduplication syndrome
Orphanet:262677	Orphanet:262803	\N	"" []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	571152	\N	\N	EFO	2	EFO	Partial duplication of chromosome 17	17p13.3 microduplication syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	1153285	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	17p13.3 microduplication syndrome
Orphanet:98132	Orphanet:262677	\N	"" []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	1153286	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	17p13.3 microduplication syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	2035798	\N	\N	EFO	4	EFO	genetic disorder	17p13.3 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	2035799	\N	\N	EFO	4	EFO	Autosomal trisomy	17p13.3 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	6149074	\N	\N	EFO	8	EFO	disease	17p13.3 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	3186220	\N	\N	EFO	5	EFO	Autosomal anomaly	17p13.3 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	6409952	\N	\N	EFO	9	EFO	disposition	17p13.3 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	4393619	\N	\N	EFO	6	EFO	Chromosomal anomaly	17p13.3 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	6807794	\N	\N	EFO	10	EFO	material property	17p13.3 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	5412022	\N	\N	EFO	7	EFO	genetic disorder	17p13.3 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217385	"17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." []	7048599	\N	\N	EFO	11	EFO	experimental factor	17p13.3 microduplication syndrome
Orphanet:217390	\N	\N	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	74605	\N	\N	EFO	0	EFO	Combined immunodeficiency due to DOCK8 deficiency	Combined immunodeficiency due to DOCK8 deficiency
Orphanet:101972	Orphanet:217390	\N	"" []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	216644	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Combined immunodeficiency due to DOCK8 deficiency
Orphanet:169446	Orphanet:217390	\N	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	216645	\N	\N	EFO	1	EFO	Autosomal recessive hyper-IgE syndrome	Combined immunodeficiency due to DOCK8 deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	571153	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined immunodeficiency due to DOCK8 deficiency
Orphanet:331223	Orphanet:169446	\N	"" []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	571154	\N	\N	EFO	2	EFO	Hyper-IgE syndrome	Combined immunodeficiency due to DOCK8 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	3186223	\N	\N	EFO	5	EFO	Primary immunodeficiency	Combined immunodeficiency due to DOCK8 deficiency
Orphanet:331217	Orphanet:331223	\N	"" []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	1153288	\N	\N	EFO	3	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Combined immunodeficiency due to DOCK8 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	4066879	\N	\N	EFO	6	EFO	Rare genetic immune disease	Combined immunodeficiency due to DOCK8 deficiency
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	2035801	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined immunodeficiency due to DOCK8 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	5059755	\N	\N	EFO	7	EFO	genetic disorder	Combined immunodeficiency due to DOCK8 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	5059756	\N	\N	EFO	7	EFO	immune system disease	Combined immunodeficiency due to DOCK8 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	5876970	\N	\N	EFO	8	EFO	disease	Combined immunodeficiency due to DOCK8 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	5876971	\N	\N	EFO	8	EFO	disease	Combined immunodeficiency due to DOCK8 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	6470176	\N	\N	EFO	9	EFO	disposition	Combined immunodeficiency due to DOCK8 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	6848392	\N	\N	EFO	10	EFO	material property	Combined immunodeficiency due to DOCK8 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217390	"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." []	7068414	\N	\N	EFO	11	EFO	experimental factor	Combined immunodeficiency due to DOCK8 deficiency
Orphanet:217396	\N	\N	"" []	Orphanet:217396	"" []	74606	\N	\N	EFO	0	EFO	Progressive demyelinating neuropathy with bilateral striatal necrosis	Progressive demyelinating neuropathy with bilateral striatal necrosis
Orphanet:98497	Orphanet:217396	\N	"" []	Orphanet:217396	"" []	216646	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Progressive demyelinating neuropathy with bilateral striatal necrosis
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:217396	"" []	571155	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Progressive demyelinating neuropathy with bilateral striatal necrosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217396	"" []	1153289	\N	\N	EFO	3	EFO	genetic disorder	Progressive demyelinating neuropathy with bilateral striatal necrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217396	"" []	2035802	\N	\N	EFO	4	EFO	disease	Progressive demyelinating neuropathy with bilateral striatal necrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217396	"" []	3186224	\N	\N	EFO	5	EFO	disposition	Progressive demyelinating neuropathy with bilateral striatal necrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217396	"" []	4393622	\N	\N	EFO	6	EFO	material property	Progressive demyelinating neuropathy with bilateral striatal necrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217396	"" []	5412024	\N	\N	EFO	7	EFO	experimental factor	Progressive demyelinating neuropathy with bilateral striatal necrosis
Orphanet:217399	\N	\N	"" []	Orphanet:217399	"" []	74607	\N	\N	EFO	0	EFO	Congenital insensitivity to pain with hyperhidrosis	Congenital insensitivity to pain with hyperhidrosis
Orphanet:140471	Orphanet:217399	\N	"" []	Orphanet:217399	"" []	216647	\N	\N	EFO	1	EFO	Hereditary sensory and autonomic neuropathy	Congenital insensitivity to pain with hyperhidrosis
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:217399	"" []	571156	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Congenital insensitivity to pain with hyperhidrosis
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:217399	"" []	1153290	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Congenital insensitivity to pain with hyperhidrosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217399	"" []	2035803	\N	\N	EFO	4	EFO	genetic disorder	Congenital insensitivity to pain with hyperhidrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217399	"" []	3186225	\N	\N	EFO	5	EFO	disease	Congenital insensitivity to pain with hyperhidrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217399	"" []	4393623	\N	\N	EFO	6	EFO	disposition	Congenital insensitivity to pain with hyperhidrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217399	"" []	5412025	\N	\N	EFO	7	EFO	material property	Congenital insensitivity to pain with hyperhidrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217399	"" []	6149076	\N	\N	EFO	8	EFO	experimental factor	Congenital insensitivity to pain with hyperhidrosis
Orphanet:217407	\N	\N	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	Orphanet:217407	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	74608	\N	\N	EFO	0	EFO	Hereditary hypotrichosis with recurrent skin vesicles	Hereditary hypotrichosis with recurrent skin vesicles
Orphanet:79364	Orphanet:217407	\N	"" []	Orphanet:217407	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	216648	\N	\N	EFO	1	EFO	Alopecia	Hereditary hypotrichosis with recurrent skin vesicles
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:217407	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	571157	\N	\N	EFO	2	EFO	Genetic hair anomaly	Hereditary hypotrichosis with recurrent skin vesicles
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:217407	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	1153291	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Hereditary hypotrichosis with recurrent skin vesicles
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:217407	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	2035804	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hereditary hypotrichosis with recurrent skin vesicles
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217407	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	3186226	\N	\N	EFO	5	EFO	genetic disorder	Hereditary hypotrichosis with recurrent skin vesicles
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:217407	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	3186227	\N	\N	EFO	5	EFO	skin disease	Hereditary hypotrichosis with recurrent skin vesicles
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217407	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	4393624	\N	\N	EFO	6	EFO	disease	Hereditary hypotrichosis with recurrent skin vesicles
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217407	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	4393625	\N	\N	EFO	6	EFO	disease	Hereditary hypotrichosis with recurrent skin vesicles
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217407	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	5412026	\N	\N	EFO	7	EFO	disposition	Hereditary hypotrichosis with recurrent skin vesicles
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217407	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	6149077	\N	\N	EFO	8	EFO	material property	Hereditary hypotrichosis with recurrent skin vesicles
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217407	"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." []	6632485	\N	\N	EFO	9	EFO	experimental factor	Hereditary hypotrichosis with recurrent skin vesicles
Orphanet:217454	\N	\N	"" []	Orphanet:217454	"" []	74609	\N	\N	EFO	0	EFO	Rare hereditary thrombophilia	Rare hereditary thrombophilia
Orphanet:248361	Orphanet:217454	\N	"" []	Orphanet:217454	"" []	216649	\N	\N	EFO	1	EFO	Rare thrombotic disorder due to a constitutional coagulation factors defect	Rare hereditary thrombophilia
Orphanet:399185	Orphanet:217454	\N	"" []	Orphanet:217454	"" []	216650	\N	\N	EFO	1	EFO	Rare hereditary disease with avascular necrosis	Rare hereditary thrombophilia
Orphanet:183654	Orphanet:248361	\N	"" []	Orphanet:217454	"" []	571158	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Rare hereditary thrombophilia
Orphanet:399388	Orphanet:399185	\N	"" []	Orphanet:217454	"" []	571159	\N	\N	EFO	2	EFO	Avascular necrosis of genetic origin	Rare hereditary thrombophilia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:217454	"" []	1153292	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Rare hereditary thrombophilia
Orphanet:399380	Orphanet:399388	\N	"" []	Orphanet:217454	"" []	1153293	\N	\N	EFO	3	EFO	Osteonecrosis of genetic origin	Rare hereditary thrombophilia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217454	"" []	2035805	\N	\N	EFO	4	EFO	genetic disorder	Rare hereditary thrombophilia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:217454	"" []	2035806	\N	\N	EFO	4	EFO	hematological system disease	Rare hereditary thrombophilia
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:217454	"" []	2035807	\N	\N	EFO	4	EFO	Rare genetic bone disease	Rare hereditary thrombophilia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217454	"" []	4393627	\N	\N	EFO	6	EFO	disease	Rare hereditary thrombophilia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217454	"" []	3186229	\N	\N	EFO	5	EFO	disease	Rare hereditary thrombophilia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217454	"" []	3186230	\N	\N	EFO	5	EFO	genetic disorder	Rare hereditary thrombophilia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:217454	"" []	3186231	\N	\N	EFO	5	EFO	bone disease	Rare hereditary thrombophilia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217454	"" []	6149079	\N	\N	EFO	8	EFO	disposition	Rare hereditary thrombophilia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:217454	"" []	4393628	\N	\N	EFO	6	EFO	skeletal system disease	Rare hereditary thrombophilia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217454	"" []	6470177	\N	\N	EFO	9	EFO	material property	Rare hereditary thrombophilia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217454	"" []	5412028	\N	\N	EFO	7	EFO	disease	Rare hereditary thrombophilia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217454	"" []	6848393	\N	\N	EFO	10	EFO	experimental factor	Rare hereditary thrombophilia
Orphanet:217467	\N	\N	"" []	Orphanet:217467	"" []	74610	\N	\N	EFO	0	EFO	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Orphanet:217454	Orphanet:217467	\N	"" []	Orphanet:217467	"" []	216651	\N	\N	EFO	1	EFO	Rare hereditary thrombophilia	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Orphanet:248361	Orphanet:217454	\N	"" []	Orphanet:217467	"" []	571160	\N	\N	EFO	2	EFO	Rare thrombotic disorder due to a constitutional coagulation factors defect	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Orphanet:399185	Orphanet:217454	\N	"" []	Orphanet:217467	"" []	571161	\N	\N	EFO	2	EFO	Rare hereditary disease with avascular necrosis	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Orphanet:183654	Orphanet:248361	\N	"" []	Orphanet:217467	"" []	1153294	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Orphanet:399388	Orphanet:399185	\N	"" []	Orphanet:217467	"" []	1153295	\N	\N	EFO	3	EFO	Avascular necrosis of genetic origin	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:217467	"" []	2035808	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Orphanet:399380	Orphanet:399388	\N	"" []	Orphanet:217467	"" []	2035809	\N	\N	EFO	4	EFO	Osteonecrosis of genetic origin	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217467	"" []	3186232	\N	\N	EFO	5	EFO	genetic disorder	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:217467	"" []	3186233	\N	\N	EFO	5	EFO	hematological system disease	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:217467	"" []	3186234	\N	\N	EFO	5	EFO	Rare genetic bone disease	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217467	"" []	5412030	\N	\N	EFO	7	EFO	disease	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217467	"" []	4393630	\N	\N	EFO	6	EFO	disease	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217467	"" []	4393631	\N	\N	EFO	6	EFO	genetic disorder	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:217467	"" []	4393632	\N	\N	EFO	6	EFO	bone disease	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217467	"" []	6632487	\N	\N	EFO	9	EFO	disposition	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:217467	"" []	5412031	\N	\N	EFO	7	EFO	skeletal system disease	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217467	"" []	6848394	\N	\N	EFO	10	EFO	material property	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217467	"" []	6149081	\N	\N	EFO	8	EFO	disease	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217467	"" []	7068415	\N	\N	EFO	11	EFO	experimental factor	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Orphanet:217563	\N	\N	"" []	Orphanet:217563	"" []	74611	\N	\N	EFO	0	EFO	Neonatal acute respiratory distress with surfactant metabolism deficiency	Neonatal acute respiratory distress with surfactant metabolism deficiency
Orphanet:100049	Orphanet:217563	\N	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	Orphanet:217563	"" []	216652	\N	\N	EFO	1	EFO	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Neonatal acute respiratory distress with surfactant metabolism deficiency
Orphanet:264992	Orphanet:100049	\N	"" []	Orphanet:217563	"" []	571162	\N	\N	EFO	2	EFO	Genetic interstitial lung disease	Neonatal acute respiratory distress with surfactant metabolism deficiency
Orphanet:156610	Orphanet:264992	\N	"" []	Orphanet:217563	"" []	1153296	\N	\N	EFO	3	EFO	Rare genetic respiratory disease	Neonatal acute respiratory distress with surfactant metabolism deficiency
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217563	"" []	2035810	\N	\N	EFO	4	EFO	genetic disorder	Neonatal acute respiratory distress with surfactant metabolism deficiency
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:217563	"" []	2035811	\N	\N	EFO	4	EFO	respiratory system disease	Neonatal acute respiratory distress with surfactant metabolism deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217563	"" []	3186235	\N	\N	EFO	5	EFO	disease	Neonatal acute respiratory distress with surfactant metabolism deficiency
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217563	"" []	3186236	\N	\N	EFO	5	EFO	disease	Neonatal acute respiratory distress with surfactant metabolism deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217563	"" []	4393633	\N	\N	EFO	6	EFO	disposition	Neonatal acute respiratory distress with surfactant metabolism deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217563	"" []	5412032	\N	\N	EFO	7	EFO	material property	Neonatal acute respiratory distress with surfactant metabolism deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217563	"" []	6149082	\N	\N	EFO	8	EFO	experimental factor	Neonatal acute respiratory distress with surfactant metabolism deficiency
Orphanet:217566	\N	\N	"" []	Orphanet:217566	"" []	74612	\N	\N	EFO	0	EFO	Chronic respiratory distress with surfactant metabolism deficiency	Chronic respiratory distress with surfactant metabolism deficiency
Orphanet:264992	Orphanet:217566	\N	"" []	Orphanet:217566	"" []	216653	\N	\N	EFO	1	EFO	Genetic interstitial lung disease	Chronic respiratory distress with surfactant metabolism deficiency
Orphanet:156610	Orphanet:264992	\N	"" []	Orphanet:217566	"" []	571163	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Chronic respiratory distress with surfactant metabolism deficiency
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217566	"" []	1153297	\N	\N	EFO	3	EFO	genetic disorder	Chronic respiratory distress with surfactant metabolism deficiency
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:217566	"" []	1153298	\N	\N	EFO	3	EFO	respiratory system disease	Chronic respiratory distress with surfactant metabolism deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217566	"" []	2035812	\N	\N	EFO	4	EFO	disease	Chronic respiratory distress with surfactant metabolism deficiency
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217566	"" []	2035813	\N	\N	EFO	4	EFO	disease	Chronic respiratory distress with surfactant metabolism deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217566	"" []	3186237	\N	\N	EFO	5	EFO	disposition	Chronic respiratory distress with surfactant metabolism deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217566	"" []	4393634	\N	\N	EFO	6	EFO	material property	Chronic respiratory distress with surfactant metabolism deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217566	"" []	5412033	\N	\N	EFO	7	EFO	experimental factor	Chronic respiratory distress with surfactant metabolism deficiency
Orphanet:217572	\N	\N	"" []	Orphanet:217572	"" []	74613	\N	\N	EFO	0	EFO	Glycogen storage disease with hypertrophic cardiomyopathy	Glycogen storage disease with hypertrophic cardiomyopathy
Orphanet:99739	Orphanet:217572	\N	"" []	Orphanet:217572	"" []	216654	\N	\N	EFO	1	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen storage disease with hypertrophic cardiomyopathy
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:217572	"" []	571164	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Glycogen storage disease with hypertrophic cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217572	"" []	1153299	\N	\N	EFO	3	EFO	genetic disorder	Glycogen storage disease with hypertrophic cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217572	"" []	1153300	\N	\N	EFO	3	EFO	heart disease	Glycogen storage disease with hypertrophic cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217572	"" []	2035814	\N	\N	EFO	4	EFO	disease	Glycogen storage disease with hypertrophic cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217572	"" []	2035815	\N	\N	EFO	4	EFO	cardiovascular disease	Glycogen storage disease with hypertrophic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217572	"" []	4393636	\N	\N	EFO	6	EFO	disposition	Glycogen storage disease with hypertrophic cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217572	"" []	3186239	\N	\N	EFO	5	EFO	disease	Glycogen storage disease with hypertrophic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217572	"" []	5181976	\N	\N	EFO	7	EFO	material property	Glycogen storage disease with hypertrophic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217572	"" []	5997355	\N	\N	EFO	8	EFO	experimental factor	Glycogen storage disease with hypertrophic cardiomyopathy
Orphanet:217581	\N	\N	"" []	Orphanet:217581	"" []	74614	\N	\N	EFO	0	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Lysosomal disease with hypertrophic cardiomyopathy
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:217581	"" []	216655	\N	\N	EFO	1	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Lysosomal disease with hypertrophic cardiomyopathy
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:217581	"" []	571165	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Lysosomal disease with hypertrophic cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217581	"" []	1153301	\N	\N	EFO	3	EFO	genetic disorder	Lysosomal disease with hypertrophic cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217581	"" []	1153302	\N	\N	EFO	3	EFO	heart disease	Lysosomal disease with hypertrophic cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217581	"" []	2035816	\N	\N	EFO	4	EFO	disease	Lysosomal disease with hypertrophic cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217581	"" []	2035817	\N	\N	EFO	4	EFO	cardiovascular disease	Lysosomal disease with hypertrophic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217581	"" []	4393638	\N	\N	EFO	6	EFO	disposition	Lysosomal disease with hypertrophic cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217581	"" []	3186241	\N	\N	EFO	5	EFO	disease	Lysosomal disease with hypertrophic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217581	"" []	5181977	\N	\N	EFO	7	EFO	material property	Lysosomal disease with hypertrophic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217581	"" []	5997356	\N	\N	EFO	8	EFO	experimental factor	Lysosomal disease with hypertrophic cardiomyopathy
Orphanet:217587	\N	\N	"" []	Orphanet:217587	"" []	74615	\N	\N	EFO	0	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	Mitochondrial disease with hypertrophic cardiomyopathy
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:217587	"" []	216656	\N	\N	EFO	1	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Mitochondrial disease with hypertrophic cardiomyopathy
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:217587	"" []	571166	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Mitochondrial disease with hypertrophic cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217587	"" []	1153303	\N	\N	EFO	3	EFO	genetic disorder	Mitochondrial disease with hypertrophic cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217587	"" []	1153304	\N	\N	EFO	3	EFO	heart disease	Mitochondrial disease with hypertrophic cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217587	"" []	2035818	\N	\N	EFO	4	EFO	disease	Mitochondrial disease with hypertrophic cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217587	"" []	2035819	\N	\N	EFO	4	EFO	cardiovascular disease	Mitochondrial disease with hypertrophic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217587	"" []	4393640	\N	\N	EFO	6	EFO	disposition	Mitochondrial disease with hypertrophic cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217587	"" []	3186243	\N	\N	EFO	5	EFO	disease	Mitochondrial disease with hypertrophic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217587	"" []	5181978	\N	\N	EFO	7	EFO	material property	Mitochondrial disease with hypertrophic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217587	"" []	5997357	\N	\N	EFO	8	EFO	experimental factor	Mitochondrial disease with hypertrophic cardiomyopathy
Orphanet:217591	\N	\N	"" []	Orphanet:217591	"" []	74616	\N	\N	EFO	0	EFO	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
Orphanet:99739	Orphanet:217591	\N	"" []	Orphanet:217591	"" []	216657	\N	\N	EFO	1	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:217591	"" []	571167	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217591	"" []	1153305	\N	\N	EFO	3	EFO	genetic disorder	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217591	"" []	1153306	\N	\N	EFO	3	EFO	heart disease	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217591	"" []	2035820	\N	\N	EFO	4	EFO	disease	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217591	"" []	2035821	\N	\N	EFO	4	EFO	cardiovascular disease	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217591	"" []	4393642	\N	\N	EFO	6	EFO	disposition	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217591	"" []	3186245	\N	\N	EFO	5	EFO	disease	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217591	"" []	5181979	\N	\N	EFO	7	EFO	material property	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217591	"" []	5997358	\N	\N	EFO	8	EFO	experimental factor	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
Orphanet:217595	\N	\N	"" []	Orphanet:217595	"" []	74617	\N	\N	EFO	0	EFO	Syndrome associated with hypertrophic cardiomyopathy	Syndrome associated with hypertrophic cardiomyopathy
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:217595	"" []	216658	\N	\N	EFO	1	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Syndrome associated with hypertrophic cardiomyopathy
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:217595	"" []	571168	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Syndrome associated with hypertrophic cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217595	"" []	1153307	\N	\N	EFO	3	EFO	genetic disorder	Syndrome associated with hypertrophic cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217595	"" []	1153308	\N	\N	EFO	3	EFO	heart disease	Syndrome associated with hypertrophic cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217595	"" []	2035822	\N	\N	EFO	4	EFO	disease	Syndrome associated with hypertrophic cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217595	"" []	2035823	\N	\N	EFO	4	EFO	cardiovascular disease	Syndrome associated with hypertrophic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217595	"" []	4393644	\N	\N	EFO	6	EFO	disposition	Syndrome associated with hypertrophic cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217595	"" []	3186247	\N	\N	EFO	5	EFO	disease	Syndrome associated with hypertrophic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217595	"" []	5181980	\N	\N	EFO	7	EFO	material property	Syndrome associated with hypertrophic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217595	"" []	5997359	\N	\N	EFO	8	EFO	experimental factor	Syndrome associated with hypertrophic cardiomyopathy
Orphanet:2176	\N	\N	"" []	Orphanet:2176	"" []	74618	\N	\N	EFO	0	EFO	Infantile systemic hyalinosis	Infantile systemic hyalinosis
Orphanet:139027	Orphanet:2176	\N	"" []	Orphanet:2176	"" []	216659	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Infantile systemic hyalinosis
Orphanet:93449	Orphanet:2176	\N	"" []	Orphanet:2176	"" []	216660	\N	\N	EFO	1	EFO	Primary osteolysis	Infantile systemic hyalinosis
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2176	"" []	571169	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Infantile systemic hyalinosis
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:2176	"" []	571170	\N	\N	EFO	2	EFO	Primary bone dysplasia	Infantile systemic hyalinosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2176	"" []	3186251	\N	\N	EFO	5	EFO	genetic disorder	Infantile systemic hyalinosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2176	"" []	1153310	\N	\N	EFO	3	EFO	Rare genetic bone disease	Infantile systemic hyalinosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2176	"" []	1153311	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Infantile systemic hyalinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2176	"" []	4066880	\N	\N	EFO	6	EFO	disease	Infantile systemic hyalinosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2176	"" []	2035825	\N	\N	EFO	4	EFO	genetic disorder	Infantile systemic hyalinosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2176	"" []	2035826	\N	\N	EFO	4	EFO	bone disease	Infantile systemic hyalinosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2176	"" []	2035827	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Infantile systemic hyalinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2176	"" []	5059757	\N	\N	EFO	7	EFO	disposition	Infantile systemic hyalinosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2176	"" []	3186250	\N	\N	EFO	5	EFO	skeletal system disease	Infantile systemic hyalinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2176	"" []	5876972	\N	\N	EFO	8	EFO	material property	Infantile systemic hyalinosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2176	"" []	4393646	\N	\N	EFO	6	EFO	disease	Infantile systemic hyalinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2176	"" []	6470178	\N	\N	EFO	9	EFO	experimental factor	Infantile systemic hyalinosis
Orphanet:217607	\N	\N	"" []	Orphanet:217607	"" []	74619	\N	\N	EFO	0	EFO	Familial dilated cardiomyopathy	Familial dilated cardiomyopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:217607	"" []	216661	\N	\N	EFO	1	EFO	cardiomyopathy	Familial dilated cardiomyopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:217607	"" []	216662	\N	\N	EFO	1	EFO	Rare genetic cardiac disease	Familial dilated cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217607	"" []	571171	\N	\N	EFO	2	EFO	heart disease	Familial dilated cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217607	"" []	571172	\N	\N	EFO	2	EFO	genetic disorder	Familial dilated cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217607	"" []	571173	\N	\N	EFO	2	EFO	heart disease	Familial dilated cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217607	"" []	1153312	\N	\N	EFO	3	EFO	cardiovascular disease	Familial dilated cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217607	"" []	1153313	\N	\N	EFO	3	EFO	disease	Familial dilated cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217607	"" []	2035828	\N	\N	EFO	4	EFO	disease	Familial dilated cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217607	"" []	3186252	\N	\N	EFO	5	EFO	disposition	Familial dilated cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217607	"" []	4133527	\N	\N	EFO	6	EFO	material property	Familial dilated cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217607	"" []	5181982	\N	\N	EFO	7	EFO	experimental factor	Familial dilated cardiomyopathy
Orphanet:217610	\N	\N	"" []	Orphanet:217610	"" []	74620	\N	\N	EFO	0	EFO	Neuromuscular disease with dilated cardiomyopathy	Neuromuscular disease with dilated cardiomyopathy
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:217610	"" []	216663	\N	\N	EFO	1	EFO	Familial dilated cardiomyopathy	Neuromuscular disease with dilated cardiomyopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:217610	"" []	571174	\N	\N	EFO	2	EFO	cardiomyopathy	Neuromuscular disease with dilated cardiomyopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:217610	"" []	571175	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Neuromuscular disease with dilated cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217610	"" []	1153314	\N	\N	EFO	3	EFO	heart disease	Neuromuscular disease with dilated cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217610	"" []	1153315	\N	\N	EFO	3	EFO	genetic disorder	Neuromuscular disease with dilated cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217610	"" []	1153316	\N	\N	EFO	3	EFO	heart disease	Neuromuscular disease with dilated cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217610	"" []	2035830	\N	\N	EFO	4	EFO	cardiovascular disease	Neuromuscular disease with dilated cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217610	"" []	2035831	\N	\N	EFO	4	EFO	disease	Neuromuscular disease with dilated cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217610	"" []	3186254	\N	\N	EFO	5	EFO	disease	Neuromuscular disease with dilated cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217610	"" []	4393648	\N	\N	EFO	6	EFO	disposition	Neuromuscular disease with dilated cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217610	"" []	5181983	\N	\N	EFO	7	EFO	material property	Neuromuscular disease with dilated cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217610	"" []	5997361	\N	\N	EFO	8	EFO	experimental factor	Neuromuscular disease with dilated cardiomyopathy
Orphanet:217613	\N	\N	"" []	Orphanet:217613	"" []	74621	\N	\N	EFO	0	EFO	Mitochondrial disease with dilated cardiomyopathy	Mitochondrial disease with dilated cardiomyopathy
Orphanet:217607	Orphanet:217613	\N	"" []	Orphanet:217613	"" []	216664	\N	\N	EFO	1	EFO	Familial dilated cardiomyopathy	Mitochondrial disease with dilated cardiomyopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:217613	"" []	571176	\N	\N	EFO	2	EFO	cardiomyopathy	Mitochondrial disease with dilated cardiomyopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:217613	"" []	571177	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Mitochondrial disease with dilated cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217613	"" []	1153317	\N	\N	EFO	3	EFO	heart disease	Mitochondrial disease with dilated cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217613	"" []	1153318	\N	\N	EFO	3	EFO	genetic disorder	Mitochondrial disease with dilated cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217613	"" []	1153319	\N	\N	EFO	3	EFO	heart disease	Mitochondrial disease with dilated cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217613	"" []	2035832	\N	\N	EFO	4	EFO	cardiovascular disease	Mitochondrial disease with dilated cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217613	"" []	2035833	\N	\N	EFO	4	EFO	disease	Mitochondrial disease with dilated cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217613	"" []	3186256	\N	\N	EFO	5	EFO	disease	Mitochondrial disease with dilated cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217613	"" []	4393650	\N	\N	EFO	6	EFO	disposition	Mitochondrial disease with dilated cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217613	"" []	5181984	\N	\N	EFO	7	EFO	material property	Mitochondrial disease with dilated cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217613	"" []	5997362	\N	\N	EFO	8	EFO	experimental factor	Mitochondrial disease with dilated cardiomyopathy
Orphanet:217616	\N	\N	"" []	Orphanet:217616	"" []	74622	\N	\N	EFO	0	EFO	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Orphanet:217607	Orphanet:217616	\N	"" []	Orphanet:217616	"" []	216665	\N	\N	EFO	1	EFO	Familial dilated cardiomyopathy	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:217616	"" []	571178	\N	\N	EFO	2	EFO	cardiomyopathy	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:217616	"" []	571179	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217616	"" []	1153320	\N	\N	EFO	3	EFO	heart disease	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217616	"" []	1153321	\N	\N	EFO	3	EFO	genetic disorder	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217616	"" []	1153322	\N	\N	EFO	3	EFO	heart disease	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217616	"" []	2035834	\N	\N	EFO	4	EFO	cardiovascular disease	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217616	"" []	2035835	\N	\N	EFO	4	EFO	disease	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217616	"" []	3186258	\N	\N	EFO	5	EFO	disease	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217616	"" []	4393652	\N	\N	EFO	6	EFO	disposition	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217616	"" []	5181985	\N	\N	EFO	7	EFO	material property	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217616	"" []	5997363	\N	\N	EFO	8	EFO	experimental factor	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Orphanet:217619	\N	\N	"" []	Orphanet:217619	"" []	74623	\N	\N	EFO	0	EFO	Syndrome associated with dilated cardiomyopathy	Syndrome associated with dilated cardiomyopathy
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:217619	"" []	216666	\N	\N	EFO	1	EFO	Familial dilated cardiomyopathy	Syndrome associated with dilated cardiomyopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:217619	"" []	571180	\N	\N	EFO	2	EFO	cardiomyopathy	Syndrome associated with dilated cardiomyopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:217619	"" []	571181	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Syndrome associated with dilated cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217619	"" []	1153323	\N	\N	EFO	3	EFO	heart disease	Syndrome associated with dilated cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217619	"" []	1153324	\N	\N	EFO	3	EFO	genetic disorder	Syndrome associated with dilated cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217619	"" []	1153325	\N	\N	EFO	3	EFO	heart disease	Syndrome associated with dilated cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217619	"" []	2035836	\N	\N	EFO	4	EFO	cardiovascular disease	Syndrome associated with dilated cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217619	"" []	2035837	\N	\N	EFO	4	EFO	disease	Syndrome associated with dilated cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217619	"" []	3186260	\N	\N	EFO	5	EFO	disease	Syndrome associated with dilated cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217619	"" []	4393654	\N	\N	EFO	6	EFO	disposition	Syndrome associated with dilated cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217619	"" []	5181986	\N	\N	EFO	7	EFO	material property	Syndrome associated with dilated cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217619	"" []	5997364	\N	\N	EFO	8	EFO	experimental factor	Syndrome associated with dilated cardiomyopathy
Orphanet:217622	\N	\N	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	74624	\N	\N	EFO	0	EFO	Sensorineural deafness with dilated cardiomyopathy	Sensorineural deafness with dilated cardiomyopathy
Orphanet:217619	Orphanet:217622	\N	"" []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	216667	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	Sensorineural deafness with dilated cardiomyopathy
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	571182	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Sensorineural deafness with dilated cardiomyopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	1153326	\N	\N	EFO	3	EFO	cardiomyopathy	Sensorineural deafness with dilated cardiomyopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	1153327	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Sensorineural deafness with dilated cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	2035838	\N	\N	EFO	4	EFO	heart disease	Sensorineural deafness with dilated cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	2035839	\N	\N	EFO	4	EFO	genetic disorder	Sensorineural deafness with dilated cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	2035840	\N	\N	EFO	4	EFO	heart disease	Sensorineural deafness with dilated cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	3186262	\N	\N	EFO	5	EFO	cardiovascular disease	Sensorineural deafness with dilated cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	3186263	\N	\N	EFO	5	EFO	disease	Sensorineural deafness with dilated cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	4393656	\N	\N	EFO	6	EFO	disease	Sensorineural deafness with dilated cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	5412044	\N	\N	EFO	7	EFO	disposition	Sensorineural deafness with dilated cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	5997365	\N	\N	EFO	8	EFO	material property	Sensorineural deafness with dilated cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217622	"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." []	6550797	\N	\N	EFO	9	EFO	experimental factor	Sensorineural deafness with dilated cardiomyopathy
Orphanet:217635	\N	\N	"" []	Orphanet:217635	"" []	74625	\N	\N	EFO	0	EFO	Familial restrictive cardiomyopathy	Familial restrictive cardiomyopathy
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:217635	"" []	216668	\N	\N	EFO	1	EFO	cardiomyopathy	Familial restrictive cardiomyopathy
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:217635	"" []	216669	\N	\N	EFO	1	EFO	Rare genetic cardiac disease	Familial restrictive cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217635	"" []	571183	\N	\N	EFO	2	EFO	heart disease	Familial restrictive cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217635	"" []	571184	\N	\N	EFO	2	EFO	genetic disorder	Familial restrictive cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217635	"" []	571185	\N	\N	EFO	2	EFO	heart disease	Familial restrictive cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217635	"" []	1153328	\N	\N	EFO	3	EFO	cardiovascular disease	Familial restrictive cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217635	"" []	1153329	\N	\N	EFO	3	EFO	disease	Familial restrictive cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217635	"" []	2035841	\N	\N	EFO	4	EFO	disease	Familial restrictive cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217635	"" []	3186264	\N	\N	EFO	5	EFO	disposition	Familial restrictive cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217635	"" []	4133528	\N	\N	EFO	6	EFO	material property	Familial restrictive cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217635	"" []	5181987	\N	\N	EFO	7	EFO	experimental factor	Familial restrictive cardiomyopathy
Orphanet:217638	\N	\N	"" []	Orphanet:217638	"" []	74626	\N	\N	EFO	0	EFO	Lysosomal disease with restrictive cardiomyopathy	Lysosomal disease with restrictive cardiomyopathy
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:217638	"" []	216670	\N	\N	EFO	1	EFO	Familial restrictive cardiomyopathy	Lysosomal disease with restrictive cardiomyopathy
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:217638	"" []	571186	\N	\N	EFO	2	EFO	cardiomyopathy	Lysosomal disease with restrictive cardiomyopathy
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:217638	"" []	571187	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Lysosomal disease with restrictive cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217638	"" []	1153330	\N	\N	EFO	3	EFO	heart disease	Lysosomal disease with restrictive cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217638	"" []	1153331	\N	\N	EFO	3	EFO	genetic disorder	Lysosomal disease with restrictive cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217638	"" []	1153332	\N	\N	EFO	3	EFO	heart disease	Lysosomal disease with restrictive cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217638	"" []	2035843	\N	\N	EFO	4	EFO	cardiovascular disease	Lysosomal disease with restrictive cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217638	"" []	2035844	\N	\N	EFO	4	EFO	disease	Lysosomal disease with restrictive cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217638	"" []	3186266	\N	\N	EFO	5	EFO	disease	Lysosomal disease with restrictive cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217638	"" []	4393659	\N	\N	EFO	6	EFO	disposition	Lysosomal disease with restrictive cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217638	"" []	5181988	\N	\N	EFO	7	EFO	material property	Lysosomal disease with restrictive cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217638	"" []	5997366	\N	\N	EFO	8	EFO	experimental factor	Lysosomal disease with restrictive cardiomyopathy
Orphanet:217656	\N	\N	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	Orphanet:217656	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	74627	\N	\N	EFO	0	EFO	Familial isolated arrhythmogenic right ventricular dysplasia	Familial isolated arrhythmogenic right ventricular dysplasia
Orphanet:247	Orphanet:217656	\N	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	Orphanet:217656	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	216671	\N	\N	EFO	1	EFO	Arrhythmogenic right ventricular dysplasia	Familial isolated arrhythmogenic right ventricular dysplasia
Orphanet:98054	Orphanet:247	\N	"" []	Orphanet:217656	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	571188	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Familial isolated arrhythmogenic right ventricular dysplasia
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:217656	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	1153333	\N	\N	EFO	3	EFO	genetic disorder	Familial isolated arrhythmogenic right ventricular dysplasia
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:217656	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	1153334	\N	\N	EFO	3	EFO	heart disease	Familial isolated arrhythmogenic right ventricular dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217656	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	2035845	\N	\N	EFO	4	EFO	disease	Familial isolated arrhythmogenic right ventricular dysplasia
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:217656	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	2035846	\N	\N	EFO	4	EFO	cardiovascular disease	Familial isolated arrhythmogenic right ventricular dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:217656	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	4393662	\N	\N	EFO	6	EFO	disposition	Familial isolated arrhythmogenic right ventricular dysplasia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:217656	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	3186269	\N	\N	EFO	5	EFO	disease	Familial isolated arrhythmogenic right ventricular dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:217656	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	5181989	\N	\N	EFO	7	EFO	material property	Familial isolated arrhythmogenic right ventricular dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:217656	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	5997367	\N	\N	EFO	8	EFO	experimental factor	Familial isolated arrhythmogenic right ventricular dysplasia
Orphanet:2177	\N	\N	"" []	Orphanet:2177	"" []	74628	\N	\N	EFO	0	EFO	Hydranencephaly	Hydranencephaly
Orphanet:269190	Orphanet:2177	\N	"" []	Orphanet:2177	"" []	216672	\N	\N	EFO	1	EFO	Encephaloclastic disorder	Hydranencephaly
Orphanet:269553	Orphanet:269190	\N	"" []	Orphanet:2177	"" []	571189	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Hydranencephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:2177	"" []	1153335	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Hydranencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2177	"" []	2035847	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Hydranencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2177	"" []	3186270	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hydranencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2177	"" []	3186271	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hydranencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2177	"" []	4393663	\N	\N	EFO	6	EFO	genetic disorder	Hydranencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2177	"" []	4393664	\N	\N	EFO	6	EFO	genetic disorder	Hydranencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2177	"" []	5412048	\N	\N	EFO	7	EFO	disease	Hydranencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2177	"" []	6149084	\N	\N	EFO	8	EFO	disposition	Hydranencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2177	"" []	6632488	\N	\N	EFO	9	EFO	material property	Hydranencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2177	"" []	6925533	\N	\N	EFO	10	EFO	experimental factor	Hydranencephaly
Orphanet:218	\N	\N	"" []	Orphanet:218	"" []	74629	\N	\N	EFO	0	EFO	Darier disease	Darier disease
Orphanet:79360	Orphanet:218	\N	"" []	Orphanet:218	"" []	216673	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Darier disease
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:218	"" []	571190	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Darier disease
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:218	"" []	1153336	\N	\N	EFO	3	EFO	Rare genetic skin disease	Darier disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:218	"" []	2035848	\N	\N	EFO	4	EFO	genetic disorder	Darier disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:218	"" []	2035849	\N	\N	EFO	4	EFO	skin disease	Darier disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:218	"" []	3186272	\N	\N	EFO	5	EFO	disease	Darier disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:218	"" []	3186273	\N	\N	EFO	5	EFO	disease	Darier disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:218	"" []	4393665	\N	\N	EFO	6	EFO	disposition	Darier disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:218	"" []	5412049	\N	\N	EFO	7	EFO	material property	Darier disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:218	"" []	6149085	\N	\N	EFO	8	EFO	experimental factor	Darier disease
Orphanet:2180	\N	\N	"" []	Orphanet:2180	"" []	74630	\N	\N	EFO	0	EFO	Hydrocephalus - costovertebral dysplasia - Sprengel anomaly	Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
Orphanet:330197	Orphanet:2180	\N	"" []	Orphanet:2180	"" []	216674	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2180	"" []	571191	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2180	"" []	1153337	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2180	"" []	2035850	\N	\N	EFO	4	EFO	genetic disorder	Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2180	"" []	3186274	\N	\N	EFO	5	EFO	disease	Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2180	"" []	4393666	\N	\N	EFO	6	EFO	disposition	Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2180	"" []	5412050	\N	\N	EFO	7	EFO	material property	Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2180	"" []	6149086	\N	\N	EFO	8	EFO	experimental factor	Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
Orphanet:2181	\N	\N	"Hydrocephaly - tall stature - joint laxity is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." []	Orphanet:2181	"Hydrocephaly - tall stature - joint laxity is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." []	74631	\N	\N	EFO	0	EFO	Hydrocephaly - tall stature - joint laxity	Hydrocephaly - tall stature - joint laxity
Orphanet:330206	Orphanet:2181	\N	"" []	Orphanet:2181	"Hydrocephaly - tall stature - joint laxity is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." []	216675	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Hydrocephaly - tall stature - joint laxity
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2181	"Hydrocephaly - tall stature - joint laxity is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." []	571192	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hydrocephaly - tall stature - joint laxity
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2181	"Hydrocephaly - tall stature - joint laxity is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." []	1153338	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hydrocephaly - tall stature - joint laxity
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2181	"Hydrocephaly - tall stature - joint laxity is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." []	2035851	\N	\N	EFO	4	EFO	genetic disorder	Hydrocephaly - tall stature - joint laxity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2181	"Hydrocephaly - tall stature - joint laxity is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." []	3186275	\N	\N	EFO	5	EFO	disease	Hydrocephaly - tall stature - joint laxity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2181	"Hydrocephaly - tall stature - joint laxity is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." []	4393667	\N	\N	EFO	6	EFO	disposition	Hydrocephaly - tall stature - joint laxity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2181	"Hydrocephaly - tall stature - joint laxity is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." []	5412051	\N	\N	EFO	7	EFO	material property	Hydrocephaly - tall stature - joint laxity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2181	"Hydrocephaly - tall stature - joint laxity is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." []	6149087	\N	\N	EFO	8	EFO	experimental factor	Hydrocephaly - tall stature - joint laxity
Orphanet:2182	\N	\N	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	74632	\N	\N	EFO	0	EFO	Hydrocephalus with stenosis of the aqueduct of Sylvius	Hydrocephalus with stenosis of the aqueduct of Sylvius
Orphanet:275543	Orphanet:2182	\N	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	216676	\N	\N	EFO	1	EFO	L1 syndrome	Hydrocephalus with stenosis of the aqueduct of Sylvius
Orphanet:269573	Orphanet:275543	\N	"" []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	571193	\N	\N	EFO	2	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Hydrocephalus with stenosis of the aqueduct of Sylvius
Orphanet:98464	Orphanet:275543	\N	"" []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	571194	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Hydrocephalus with stenosis of the aqueduct of Sylvius
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	1153339	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Hydrocephalus with stenosis of the aqueduct of Sylvius
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	1153340	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Hydrocephalus with stenosis of the aqueduct of Sylvius
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	2035852	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Hydrocephalus with stenosis of the aqueduct of Sylvius
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	2035853	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Hydrocephalus with stenosis of the aqueduct of Sylvius
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	3186276	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hydrocephalus with stenosis of the aqueduct of Sylvius
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	3186277	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hydrocephalus with stenosis of the aqueduct of Sylvius
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	3186278	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hydrocephalus with stenosis of the aqueduct of Sylvius
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	4393668	\N	\N	EFO	6	EFO	genetic disorder	Hydrocephalus with stenosis of the aqueduct of Sylvius
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	4393669	\N	\N	EFO	6	EFO	genetic disorder	Hydrocephalus with stenosis of the aqueduct of Sylvius
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	5412052	\N	\N	EFO	7	EFO	disease	Hydrocephalus with stenosis of the aqueduct of Sylvius
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	6149088	\N	\N	EFO	8	EFO	disposition	Hydrocephalus with stenosis of the aqueduct of Sylvius
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	6632489	\N	\N	EFO	9	EFO	material property	Hydrocephalus with stenosis of the aqueduct of Sylvius
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2182	"Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." []	6925534	\N	\N	EFO	10	EFO	experimental factor	Hydrocephalus with stenosis of the aqueduct of Sylvius
Orphanet:2183	\N	\N	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	74633	\N	\N	EFO	0	EFO	Hydrocephalus - obesity - hypogonadism	Hydrocephalus - obesity - hypogonadism
Orphanet:181441	Orphanet:2183	\N	"" []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	216677	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Hydrocephalus - obesity - hypogonadism
Orphanet:240371	Orphanet:2183	\N	"" []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	216678	\N	\N	EFO	1	EFO	Syndromic obesity	Hydrocephalus - obesity - hypogonadism
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	571195	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Hydrocephalus - obesity - hypogonadism
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	571196	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Hydrocephalus - obesity - hypogonadism
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	571197	\N	\N	EFO	2	EFO	Genetic obesity	Hydrocephalus - obesity - hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	2035857	\N	\N	EFO	4	EFO	genetic disorder	Hydrocephalus - obesity - hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	2035858	\N	\N	EFO	4	EFO	endocrine system disease	Hydrocephalus - obesity - hypogonadism
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	1153343	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Hydrocephalus - obesity - hypogonadism
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	1153344	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Hydrocephalus - obesity - hypogonadism
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	1153345	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Hydrocephalus - obesity - hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	5412054	\N	\N	EFO	7	EFO	disease	Hydrocephalus - obesity - hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	3000207	\N	\N	EFO	5	EFO	disease	Hydrocephalus - obesity - hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	2035856	\N	\N	EFO	4	EFO	Rare genetic male infertility	Hydrocephalus - obesity - hypogonadism
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	2035859	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hydrocephalus - obesity - hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	5817563	\N	\N	EFO	8	EFO	disposition	Hydrocephalus - obesity - hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	3186280	\N	\N	EFO	5	EFO	Genetic infertility	Hydrocephalus - obesity - hypogonadism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	3186281	\N	\N	EFO	5	EFO	genetic disorder	Hydrocephalus - obesity - hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	6409953	\N	\N	EFO	9	EFO	material property	Hydrocephalus - obesity - hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	4393671	\N	\N	EFO	6	EFO	genetic disorder	Hydrocephalus - obesity - hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	4393672	\N	\N	EFO	6	EFO	reproductive system disease	Hydrocephalus - obesity - hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	6807795	\N	\N	EFO	10	EFO	experimental factor	Hydrocephalus - obesity - hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2183	"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." []	5412055	\N	\N	EFO	7	EFO	disease	Hydrocephalus - obesity - hypogonadism
Orphanet:2185	\N	\N	"" []	Orphanet:2185	"" []	74634	\N	\N	EFO	0	EFO	Congenital hydrocephalus	Congenital hydrocephalus
Orphanet:269550	Orphanet:2185	\N	"" []	Orphanet:2185	"" []	216679	\N	\N	EFO	1	EFO	Genetic non-syndromic central nervous system malformation	Congenital hydrocephalus
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2185	"" []	571198	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Congenital hydrocephalus
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2185	"" []	1153346	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital hydrocephalus
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2185	"" []	1153347	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Congenital hydrocephalus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2185	"" []	2035860	\N	\N	EFO	4	EFO	genetic disorder	Congenital hydrocephalus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2185	"" []	2035861	\N	\N	EFO	4	EFO	genetic disorder	Congenital hydrocephalus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2185	"" []	3186282	\N	\N	EFO	5	EFO	disease	Congenital hydrocephalus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2185	"" []	4393674	\N	\N	EFO	6	EFO	disposition	Congenital hydrocephalus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2185	"" []	5412056	\N	\N	EFO	7	EFO	material property	Congenital hydrocephalus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2185	"" []	6149089	\N	\N	EFO	8	EFO	experimental factor	Congenital hydrocephalus
Orphanet:2186	\N	\N	"" []	Orphanet:2186	"" []	74635	\N	\N	EFO	0	EFO	Hydrocephalus - blue sclerae - nephropathy	Hydrocephalus - blue sclerae - nephropathy
Orphanet:93547	Orphanet:2186	\N	"" []	Orphanet:2186	"" []	216680	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Hydrocephalus - blue sclerae - nephropathy
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2186	"" []	571199	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Hydrocephalus - blue sclerae - nephropathy
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2186	"" []	1153348	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hydrocephalus - blue sclerae - nephropathy
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2186	"" []	1153349	\N	\N	EFO	3	EFO	Rare genetic renal disease	Hydrocephalus - blue sclerae - nephropathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2186	"" []	2035862	\N	\N	EFO	4	EFO	genetic disorder	Hydrocephalus - blue sclerae - nephropathy
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2186	"" []	2035863	\N	\N	EFO	4	EFO	genetic disorder	Hydrocephalus - blue sclerae - nephropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2186	"" []	3186283	\N	\N	EFO	5	EFO	disease	Hydrocephalus - blue sclerae - nephropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2186	"" []	4393675	\N	\N	EFO	6	EFO	disposition	Hydrocephalus - blue sclerae - nephropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2186	"" []	5412057	\N	\N	EFO	7	EFO	material property	Hydrocephalus - blue sclerae - nephropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2186	"" []	6149090	\N	\N	EFO	8	EFO	experimental factor	Hydrocephalus - blue sclerae - nephropathy
Orphanet:2189	\N	\N	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	74636	\N	\N	EFO	0	EFO	Hydrolethalus	Hydrolethalus
Orphanet:139039	Orphanet:2189	\N	"" []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	216681	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Hydrolethalus
Orphanet:269564	Orphanet:2189	\N	"" []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	216682	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Hydrolethalus
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	571200	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Hydrolethalus
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	571201	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Hydrolethalus
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	1153350	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Hydrolethalus
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	1153351	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hydrolethalus
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	1153352	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hydrolethalus
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	2035864	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Hydrolethalus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	4393676	\N	\N	EFO	6	EFO	genetic disorder	Hydrolethalus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	2035866	\N	\N	EFO	4	EFO	genetic disorder	Hydrolethalus
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	3186284	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hydrolethalus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	5059759	\N	\N	EFO	7	EFO	disease	Hydrolethalus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	5876974	\N	\N	EFO	8	EFO	disposition	Hydrolethalus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	6470180	\N	\N	EFO	9	EFO	material property	Hydrolethalus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2189	"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." []	6848395	\N	\N	EFO	10	EFO	experimental factor	Hydrolethalus
Orphanet:219	\N	\N	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	74637	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2F	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:102015	Orphanet:219	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	216683	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:207070	Orphanet:219	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	216684	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of delta-sarcoglycan	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:217610	Orphanet:219	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	216685	\N	\N	EFO	1	EFO	Neuromuscular disease with dilated cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	571202	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:207052	Orphanet:207070	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	571203	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of sarcoglycan	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	571204	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	1153353	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:207049	Orphanet:207052	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	1153354	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2F
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	1153355	\N	\N	EFO	3	EFO	cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	1153356	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	2035867	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	2035868	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2F
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	2035869	\N	\N	EFO	4	EFO	heart disease	Autosomal recessive limb-girdle muscular dystrophy type 2F
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	2035870	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2F
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	2035871	\N	\N	EFO	4	EFO	heart disease	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	3186286	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2F
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	5412059	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	5412060	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2F
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	3186289	\N	\N	EFO	5	EFO	cardiovascular disease	Autosomal recessive limb-girdle muscular dystrophy type 2F
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	6470182	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	4393678	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2F
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	5876975	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2F
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	5876976	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2F
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	4393681	\N	\N	EFO	6	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2F
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	6778640	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2F
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	6470181	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2F
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	7029854	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2F
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:219	"#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." []	7181756	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:2190	\N	\N	"Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." []	Orphanet:2190	"Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." []	74638	\N	\N	EFO	0	EFO	Congenital hydronephrosis	Congenital hydronephrosis
Orphanet:357506	Orphanet:2190	\N	"" []	Orphanet:2190	"Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." []	216686	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Congenital hydronephrosis
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:2190	"Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." []	571205	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Congenital hydronephrosis
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2190	"Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." []	1153357	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital hydronephrosis
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2190	"Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." []	1153358	\N	\N	EFO	3	EFO	Rare genetic renal disease	Congenital hydronephrosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2190	"Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." []	2035872	\N	\N	EFO	4	EFO	genetic disorder	Congenital hydronephrosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2190	"Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." []	2035873	\N	\N	EFO	4	EFO	genetic disorder	Congenital hydronephrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2190	"Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." []	3186291	\N	\N	EFO	5	EFO	disease	Congenital hydronephrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2190	"Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." []	4393683	\N	\N	EFO	6	EFO	disposition	Congenital hydronephrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2190	"Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." []	5412065	\N	\N	EFO	7	EFO	material property	Congenital hydronephrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2190	"Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." []	6149093	\N	\N	EFO	8	EFO	experimental factor	Congenital hydronephrosis
Orphanet:2195	\N	\N	"" []	Orphanet:2195	"" []	74639	\N	\N	EFO	0	EFO	Dicarboxylic aminoaciduria	Dicarboxylic aminoaciduria
Orphanet:79166	Orphanet:2195	\N	"" []	Orphanet:2195	"" []	216687	\N	\N	EFO	1	EFO	Disorder of amino acid absorption and transport	Dicarboxylic aminoaciduria
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:2195	"" []	571206	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Dicarboxylic aminoaciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2195	"" []	1153359	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Dicarboxylic aminoaciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2195	"" []	2035874	\N	\N	EFO	4	EFO	genetic disorder	Dicarboxylic aminoaciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2195	"" []	2035875	\N	\N	EFO	4	EFO	metabolic disease	Dicarboxylic aminoaciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2195	"" []	3186292	\N	\N	EFO	5	EFO	disease	Dicarboxylic aminoaciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2195	"" []	3186293	\N	\N	EFO	5	EFO	disease	Dicarboxylic aminoaciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2195	"" []	4393684	\N	\N	EFO	6	EFO	disposition	Dicarboxylic aminoaciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2195	"" []	5412066	\N	\N	EFO	7	EFO	material property	Dicarboxylic aminoaciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2195	"" []	6149094	\N	\N	EFO	8	EFO	experimental factor	Dicarboxylic aminoaciduria
Orphanet:2196	\N	\N	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	74640	\N	\N	EFO	0	EFO	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:306516	Orphanet:2196	\N	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	216688	\N	\N	EFO	1	EFO	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:98665	Orphanet:2196	\N	"" []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	216689	\N	\N	EFO	1	EFO	Colobomatous and areolar dystrophy	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:34526	Orphanet:306516	\N	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	571207	\N	\N	EFO	2	EFO	Familial primary hypomagnesemia	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:98664	Orphanet:98665	\N	"" []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	571208	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:183592	Orphanet:34526	\N	"" []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	1153360	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:309848	Orphanet:34526	\N	"" []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	1153361	\N	\N	EFO	3	EFO	Disorder of magnesium transport	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	1153362	\N	\N	EFO	3	EFO	Retinal dystrophy	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	2035876	\N	\N	EFO	4	EFO	Rare genetic renal disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:309836	Orphanet:309848	\N	"" []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	2035877	\N	\N	EFO	4	EFO	Disorder of mineral absorption and transport	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	2035878	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	3186294	\N	\N	EFO	5	EFO	genetic disorder	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	3186295	\N	\N	EFO	5	EFO	Disorder of metabolite absorption and transport	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	3186296	\N	\N	EFO	5	EFO	Rare genetic eye disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	6149096	\N	\N	EFO	8	EFO	disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	4393686	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	4393687	\N	\N	EFO	6	EFO	genetic disorder	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	4393688	\N	\N	EFO	6	EFO	eye disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	6470184	\N	\N	EFO	9	EFO	disposition	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	5412068	\N	\N	EFO	7	EFO	genetic disorder	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	5412069	\N	\N	EFO	7	EFO	metabolic disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	5412071	\N	\N	EFO	7	EFO	disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	6848397	\N	\N	EFO	10	EFO	material property	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	6149097	\N	\N	EFO	8	EFO	disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2196	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." []	7068416	\N	\N	EFO	11	EFO	experimental factor	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Orphanet:2197	\N	\N	"" []	Orphanet:2197	"" []	74641	\N	\N	EFO	0	EFO	Idiopathic hypercalciuria	Idiopathic hypercalciuria
EFO:0005769	Orphanet:2197	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:2197	"" []	216690	\N	\N	EFO	1	EFO	calcium metabolic disease	Idiopathic hypercalciuria
Orphanet:183592	Orphanet:2197	\N	"" []	Orphanet:2197	"" []	216691	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Idiopathic hypercalciuria
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2197	"" []	571209	\N	\N	EFO	2	EFO	metabolic disease	Idiopathic hypercalciuria
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:2197	"" []	571210	\N	\N	EFO	2	EFO	Rare genetic renal disease	Idiopathic hypercalciuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2197	"" []	1153363	\N	\N	EFO	3	EFO	disease	Idiopathic hypercalciuria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2197	"" []	1153364	\N	\N	EFO	3	EFO	genetic disorder	Idiopathic hypercalciuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2197	"" []	3186298	\N	\N	EFO	5	EFO	disposition	Idiopathic hypercalciuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2197	"" []	2035880	\N	\N	EFO	4	EFO	disease	Idiopathic hypercalciuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2197	"" []	4133530	\N	\N	EFO	6	EFO	material property	Idiopathic hypercalciuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2197	"" []	5181991	\N	\N	EFO	7	EFO	experimental factor	Idiopathic hypercalciuria
Orphanet:2198	\N	\N	"" []	Orphanet:2198	"" []	74642	\N	\N	EFO	0	EFO	Palmoplantar keratoderma-esophageal carcinoma syndrome	Palmoplantar keratoderma-esophageal carcinoma syndrome
Orphanet:165658	Orphanet:2198	\N	"" []	Orphanet:2198	"" []	216692	\N	\N	EFO	1	EFO	Genetic gastro-esophageal disease	Palmoplantar keratoderma-esophageal carcinoma syndrome
Orphanet:98353	Orphanet:2198	\N	"" []	Orphanet:2198	"" []	216693	\N	\N	EFO	1	EFO	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	Palmoplantar keratoderma-esophageal carcinoma syndrome
EFO:0000405	Orphanet:165658	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2198	"" []	571211	\N	\N	EFO	2	EFO	digestive system disease	Palmoplantar keratoderma-esophageal carcinoma syndrome
Orphanet:165652	Orphanet:165658	\N	"" []	Orphanet:2198	"" []	571212	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Palmoplantar keratoderma-esophageal carcinoma syndrome
Orphanet:307871	Orphanet:98353	\N	"" []	Orphanet:2198	"" []	571213	\N	\N	EFO	2	EFO	Disease with focal palmoplantar keratoderma as a major feature	Palmoplantar keratoderma-esophageal carcinoma syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2198	"" []	1153365	\N	\N	EFO	3	EFO	disease	Palmoplantar keratoderma-esophageal carcinoma syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2198	"" []	1153366	\N	\N	EFO	3	EFO	genetic disorder	Palmoplantar keratoderma-esophageal carcinoma syndrome
Orphanet:307837	Orphanet:307871	\N	"" []	Orphanet:2198	"" []	1153367	\N	\N	EFO	3	EFO	Focal palmoplantar keratoderma	Palmoplantar keratoderma-esophageal carcinoma syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2198	"" []	6378842	\N	\N	EFO	9	EFO	disposition	Palmoplantar keratoderma-esophageal carcinoma syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2198	"" []	6149098	\N	\N	EFO	8	EFO	disease	Palmoplantar keratoderma-esophageal carcinoma syndrome
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:2198	"" []	2035883	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Palmoplantar keratoderma-esophageal carcinoma syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2198	"" []	6762363	\N	\N	EFO	10	EFO	material property	Palmoplantar keratoderma-esophageal carcinoma syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:2198	"" []	3186301	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Palmoplantar keratoderma-esophageal carcinoma syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2198	"" []	7015671	\N	\N	EFO	11	EFO	experimental factor	Palmoplantar keratoderma-esophageal carcinoma syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2198	"" []	4393691	\N	\N	EFO	6	EFO	Rare genetic skin disease	Palmoplantar keratoderma-esophageal carcinoma syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2198	"" []	5412072	\N	\N	EFO	7	EFO	genetic disorder	Palmoplantar keratoderma-esophageal carcinoma syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2198	"" []	5412073	\N	\N	EFO	7	EFO	skin disease	Palmoplantar keratoderma-esophageal carcinoma syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2198	"" []	6149099	\N	\N	EFO	8	EFO	disease	Palmoplantar keratoderma-esophageal carcinoma syndrome
Orphanet:2199	\N	\N	"" []	Orphanet:2199	"" []	74643	\N	\N	EFO	0	EFO	Epidermolytic palmoplantar keratoderma	Epidermolytic palmoplantar keratoderma
Orphanet:98349	Orphanet:2199	\N	"" []	Orphanet:2199	"" []	216694	\N	\N	EFO	1	EFO	Autosomal dominant isolated diffuse palmoplantar keratoderma	Epidermolytic palmoplantar keratoderma
Orphanet:307148	Orphanet:98349	\N	"" []	Orphanet:2199	"" []	571214	\N	\N	EFO	2	EFO	Isolated diffuse palmoplantar keratoderma	Epidermolytic palmoplantar keratoderma
Orphanet:307141	Orphanet:307148	\N	"" []	Orphanet:2199	"" []	1153368	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Epidermolytic palmoplantar keratoderma
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:2199	"" []	2035884	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Epidermolytic palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:2199	"" []	3186302	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Epidermolytic palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2199	"" []	4393692	\N	\N	EFO	6	EFO	Rare genetic skin disease	Epidermolytic palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2199	"" []	5412074	\N	\N	EFO	7	EFO	genetic disorder	Epidermolytic palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2199	"" []	5412075	\N	\N	EFO	7	EFO	skin disease	Epidermolytic palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2199	"" []	6149100	\N	\N	EFO	8	EFO	disease	Epidermolytic palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2199	"" []	6149101	\N	\N	EFO	8	EFO	disease	Epidermolytic palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2199	"" []	6632491	\N	\N	EFO	9	EFO	disposition	Epidermolytic palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2199	"" []	6925535	\N	\N	EFO	10	EFO	material property	Epidermolytic palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2199	"" []	7099043	\N	\N	EFO	11	EFO	experimental factor	Epidermolytic palmoplantar keratoderma
Orphanet:22	\N	\N	"" []	Orphanet:22	"" []	74644	\N	\N	EFO	0	EFO	4-hydroxybutyric aciduria	4-hydroxybutyric aciduria
Orphanet:68385	Orphanet:22	\N	"" []	Orphanet:22	"" []	216695	\N	\N	EFO	1	EFO	Neurometabolic disease	4-hydroxybutyric aciduria
Orphanet:79175	Orphanet:22	\N	"" []	Orphanet:22	"" []	216696	\N	\N	EFO	1	EFO	Disorder of gamma-aminobutyric acid metabolism	4-hydroxybutyric aciduria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:22	"" []	571215	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	4-hydroxybutyric aciduria
Orphanet:79214	Orphanet:79175	\N	"" []	Orphanet:22	"" []	571216	\N	\N	EFO	2	EFO	Disorder of biogenic amine metabolism and transport	4-hydroxybutyric aciduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:22	"" []	1153369	\N	\N	EFO	3	EFO	genetic disorder	4-hydroxybutyric aciduria
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:22	"" []	1153370	\N	\N	EFO	3	EFO	Inborn errors of metabolism	4-hydroxybutyric aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:22	"" []	3186304	\N	\N	EFO	5	EFO	disease	4-hydroxybutyric aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:22	"" []	2035886	\N	\N	EFO	4	EFO	genetic disorder	4-hydroxybutyric aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:22	"" []	2035887	\N	\N	EFO	4	EFO	metabolic disease	4-hydroxybutyric aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:22	"" []	4133532	\N	\N	EFO	6	EFO	disposition	4-hydroxybutyric aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:22	"" []	3186305	\N	\N	EFO	5	EFO	disease	4-hydroxybutyric aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:22	"" []	5181993	\N	\N	EFO	7	EFO	material property	4-hydroxybutyric aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:22	"" []	5997371	\N	\N	EFO	8	EFO	experimental factor	4-hydroxybutyric aciduria
Orphanet:220	\N	\N	"" []	Orphanet:220	"" []	74645	\N	\N	EFO	0	EFO	Denys-Drash syndrome	Denys-Drash syndrome
Orphanet:102373	Orphanet:220	\N	"" []	Orphanet:220	"" []	216697	\N	\N	EFO	1	EFO	Primary glomerular disease	Denys-Drash syndrome
Orphanet:183422	Orphanet:220	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:220	"" []	216698	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Denys-Drash syndrome
Orphanet:325638	Orphanet:220	\N	"" []	Orphanet:220	"" []	216699	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Denys-Drash syndrome
Orphanet:98087	Orphanet:220	\N	"" []	Orphanet:220	"" []	216700	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	Denys-Drash syndrome
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:220	"" []	571217	\N	\N	EFO	2	EFO	Genetic glomerular disease	Denys-Drash syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:220	"" []	571218	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Denys-Drash syndrome
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:220	"" []	571219	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Denys-Drash syndrome
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:220	"" []	571220	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Denys-Drash syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:220	"" []	1153371	\N	\N	EFO	3	EFO	Rare genetic renal disease	Denys-Drash syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220	"" []	1153372	\N	\N	EFO	3	EFO	genetic disorder	Denys-Drash syndrome
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:220	"" []	1153373	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Denys-Drash syndrome
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:220	"" []	1153374	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Denys-Drash syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220	"" []	2035888	\N	\N	EFO	4	EFO	genetic disorder	Denys-Drash syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220	"" []	4393695	\N	\N	EFO	6	EFO	disease	Denys-Drash syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220	"" []	2035890	\N	\N	EFO	4	EFO	genetic disorder	Denys-Drash syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:220	"" []	2035891	\N	\N	EFO	4	EFO	reproductive system disease	Denys-Drash syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:220	"" []	2035892	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Denys-Drash syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:220	"" []	2035893	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Denys-Drash syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:220	"" []	2035894	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Denys-Drash syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:220	"" []	5059760	\N	\N	EFO	7	EFO	disposition	Denys-Drash syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220	"" []	3186308	\N	\N	EFO	5	EFO	disease	Denys-Drash syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220	"" []	3186309	\N	\N	EFO	5	EFO	genetic disorder	Denys-Drash syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220	"" []	3186310	\N	\N	EFO	5	EFO	genetic disorder	Denys-Drash syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:220	"" []	3186311	\N	\N	EFO	5	EFO	endocrine system disease	Denys-Drash syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220	"" []	3186312	\N	\N	EFO	5	EFO	genetic disorder	Denys-Drash syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:220	"" []	5876978	\N	\N	EFO	8	EFO	material property	Denys-Drash syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220	"" []	4393696	\N	\N	EFO	6	EFO	disease	Denys-Drash syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:220	"" []	6470185	\N	\N	EFO	9	EFO	experimental factor	Denys-Drash syndrome
Orphanet:2200	\N	\N	"" []	Orphanet:2200	"" []	74646	\N	\N	EFO	0	EFO	Focal palmoplantar and gingival keratoderma	Focal palmoplantar and gingival keratoderma
Orphanet:98353	Orphanet:2200	\N	"" []	Orphanet:2200	"" []	216701	\N	\N	EFO	1	EFO	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	Focal palmoplantar and gingival keratoderma
Orphanet:307871	Orphanet:98353	\N	"" []	Orphanet:2200	"" []	571221	\N	\N	EFO	2	EFO	Disease with focal palmoplantar keratoderma as a major feature	Focal palmoplantar and gingival keratoderma
Orphanet:307837	Orphanet:307871	\N	"" []	Orphanet:2200	"" []	1153375	\N	\N	EFO	3	EFO	Focal palmoplantar keratoderma	Focal palmoplantar and gingival keratoderma
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:2200	"" []	2035895	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Focal palmoplantar and gingival keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:2200	"" []	3186313	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Focal palmoplantar and gingival keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2200	"" []	4393697	\N	\N	EFO	6	EFO	Rare genetic skin disease	Focal palmoplantar and gingival keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2200	"" []	5412078	\N	\N	EFO	7	EFO	genetic disorder	Focal palmoplantar and gingival keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2200	"" []	5412079	\N	\N	EFO	7	EFO	skin disease	Focal palmoplantar and gingival keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2200	"" []	6149102	\N	\N	EFO	8	EFO	disease	Focal palmoplantar and gingival keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2200	"" []	6149103	\N	\N	EFO	8	EFO	disease	Focal palmoplantar and gingival keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2200	"" []	6632492	\N	\N	EFO	9	EFO	disposition	Focal palmoplantar and gingival keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2200	"" []	6925536	\N	\N	EFO	10	EFO	material property	Focal palmoplantar and gingival keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2200	"" []	7099044	\N	\N	EFO	11	EFO	experimental factor	Focal palmoplantar and gingival keratoderma
Orphanet:2201	\N	\N	"" []	Orphanet:2201	"" []	74647	\N	\N	EFO	0	EFO	Palmoplantar keratoderma-spastic paralysis syndrome	Palmoplantar keratoderma-spastic paralysis syndrome
Orphanet:308031	Orphanet:2201	\N	"" []	Orphanet:2201	"" []	216702	\N	\N	EFO	1	EFO	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature	Palmoplantar keratoderma-spastic paralysis syndrome
Orphanet:308023	Orphanet:308031	\N	"" []	Orphanet:2201	"" []	571222	\N	\N	EFO	2	EFO	Disease with punctate palmoplantar keratoderma as a major feature	Palmoplantar keratoderma-spastic paralysis syndrome
Orphanet:307967	Orphanet:308023	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:2201	"" []	1153376	\N	\N	EFO	3	EFO	Punctate palmoplantar keratoderma	Palmoplantar keratoderma-spastic paralysis syndrome
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:2201	"" []	2035896	\N	\N	EFO	4	EFO	palmoplantar keratosis	Palmoplantar keratoderma-spastic paralysis syndrome
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:2201	"" []	2035897	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Palmoplantar keratoderma-spastic paralysis syndrome
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:2201	"" []	3186314	\N	\N	EFO	5	EFO	keratosis	Palmoplantar keratoderma-spastic paralysis syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:2201	"" []	3186315	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Palmoplantar keratoderma-spastic paralysis syndrome
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2201	"" []	4393698	\N	\N	EFO	6	EFO	skin disease	Palmoplantar keratoderma-spastic paralysis syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2201	"" []	4393699	\N	\N	EFO	6	EFO	Rare genetic skin disease	Palmoplantar keratoderma-spastic paralysis syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2201	"" []	6149106	\N	\N	EFO	8	EFO	disease	Palmoplantar keratoderma-spastic paralysis syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2201	"" []	5412081	\N	\N	EFO	7	EFO	genetic disorder	Palmoplantar keratoderma-spastic paralysis syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2201	"" []	5412082	\N	\N	EFO	7	EFO	skin disease	Palmoplantar keratoderma-spastic paralysis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2201	"" []	6550800	\N	\N	EFO	9	EFO	disposition	Palmoplantar keratoderma-spastic paralysis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2201	"" []	6149105	\N	\N	EFO	8	EFO	disease	Palmoplantar keratoderma-spastic paralysis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2201	"" []	6889124	\N	\N	EFO	10	EFO	material property	Palmoplantar keratoderma-spastic paralysis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2201	"" []	7085913	\N	\N	EFO	11	EFO	experimental factor	Palmoplantar keratoderma-spastic paralysis syndrome
Orphanet:2202	\N	\N	"" []	Orphanet:2202	"" []	74648	\N	\N	EFO	0	EFO	Palmoplantar keratoderma-deafness syndrome	Palmoplantar keratoderma-deafness syndrome
Orphanet:90642	Orphanet:2202	\N	"" []	Orphanet:2202	"" []	216703	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Palmoplantar keratoderma-deafness syndrome
Orphanet:98352	Orphanet:2202	\N	"" []	Orphanet:2202	"" []	216704	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Palmoplantar keratoderma-deafness syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2202	"" []	571223	\N	\N	EFO	2	EFO	Rare genetic deafness	Palmoplantar keratoderma-deafness syndrome
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:2202	"" []	571224	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Palmoplantar keratoderma-deafness syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2202	"" []	1153377	\N	\N	EFO	3	EFO	genetic disorder	Palmoplantar keratoderma-deafness syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2202	"" []	1153378	\N	\N	EFO	3	EFO	auditory system disease	Palmoplantar keratoderma-deafness syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:2202	"" []	1153379	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Palmoplantar keratoderma-deafness syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2202	"" []	6149107	\N	\N	EFO	8	EFO	disease	Palmoplantar keratoderma-deafness syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2202	"" []	2035899	\N	\N	EFO	4	EFO	sensory system disease	Palmoplantar keratoderma-deafness syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:2202	"" []	2035900	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Palmoplantar keratoderma-deafness syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2202	"" []	6378843	\N	\N	EFO	9	EFO	disposition	Palmoplantar keratoderma-deafness syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2202	"" []	3186317	\N	\N	EFO	5	EFO	nervous system disease	Palmoplantar keratoderma-deafness syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:2202	"" []	3186318	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Palmoplantar keratoderma-deafness syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2202	"" []	6778641	\N	\N	EFO	10	EFO	material property	Palmoplantar keratoderma-deafness syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2202	"" []	4393701	\N	\N	EFO	6	EFO	disease	Palmoplantar keratoderma-deafness syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2202	"" []	4393702	\N	\N	EFO	6	EFO	Rare genetic skin disease	Palmoplantar keratoderma-deafness syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2202	"" []	7029855	\N	\N	EFO	11	EFO	experimental factor	Palmoplantar keratoderma-deafness syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2202	"" []	5412085	\N	\N	EFO	7	EFO	genetic disorder	Palmoplantar keratoderma-deafness syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2202	"" []	5412086	\N	\N	EFO	7	EFO	skin disease	Palmoplantar keratoderma-deafness syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2202	"" []	6149108	\N	\N	EFO	8	EFO	disease	Palmoplantar keratoderma-deafness syndrome
Orphanet:220295	\N	\N	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	74649	\N	\N	EFO	0	EFO	Xeroderma pigmentosum-Cockayne syndrome complex	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:139027	Orphanet:220295	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	216705	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:183422	Orphanet:220295	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	216706	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:183490	Orphanet:220295	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	216707	\N	\N	EFO	1	EFO	Genetic photodermatosis	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:183763	Orphanet:220295	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	216708	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:363245	Orphanet:220295	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	216709	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:79389	Orphanet:220295	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	216710	\N	\N	EFO	1	EFO	Premature aging	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:90642	Orphanet:220295	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	216711	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:98097	Orphanet:220295	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	216712	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:98661	Orphanet:220295	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	216713	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	571225	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	571226	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	571227	\N	\N	EFO	2	EFO	Rare genetic skin disease	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	571228	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	571229	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	571230	\N	\N	EFO	2	EFO	Rare genetic skin disease	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	571231	\N	\N	EFO	2	EFO	Rare genetic deafness	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:1172	Orphanet:98097	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	571232	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	571233	\N	\N	EFO	2	EFO	Retinal dystrophy	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	1153380	\N	\N	EFO	3	EFO	genetic disorder	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	1153381	\N	\N	EFO	3	EFO	genetic disorder	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	1153382	\N	\N	EFO	3	EFO	genetic disorder	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	1153383	\N	\N	EFO	3	EFO	skin disease	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	1153384	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	1153385	\N	\N	EFO	3	EFO	genetic disorder	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	1153386	\N	\N	EFO	3	EFO	auditory system disease	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	1153387	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	1153388	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	1153389	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	1153390	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	6378845	\N	\N	EFO	9	EFO	disease	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	2035902	\N	\N	EFO	4	EFO	disease	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	6149110	\N	\N	EFO	8	EFO	genetic disorder	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	2035904	\N	\N	EFO	4	EFO	sensory system disease	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	2035905	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	2035906	\N	\N	EFO	4	EFO	Ataxia with dementia	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	2035907	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	2035908	\N	\N	EFO	4	EFO	Rare genetic eye disease	Xeroderma pigmentosum-Cockayne syndrome complex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	6762364	\N	\N	EFO	10	EFO	disposition	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	3186321	\N	\N	EFO	5	EFO	nervous system disease	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	3186323	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	3186324	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	5412093	\N	\N	EFO	7	EFO	genetic disorder	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	5412094	\N	\N	EFO	7	EFO	eye disease	Xeroderma pigmentosum-Cockayne syndrome complex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	7015672	\N	\N	EFO	11	EFO	material property	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	6632494	\N	\N	EFO	9	EFO	disease	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	4393705	\N	\N	EFO	6	EFO	Genetic dementia	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	4393706	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	4393707	\N	\N	EFO	6	EFO	Rare genetic eye disease	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	5876982	\N	\N	EFO	8	EFO	disease	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	7173620	\N	\N	EFO	12	EFO	experimental factor	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	5412088	\N	\N	EFO	7	EFO	brain disease	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	5412089	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	5412090	\N	\N	EFO	7	EFO	neurodegenerative disease	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	5412091	\N	\N	EFO	7	EFO	brain disease	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	5412092	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	6149109	\N	\N	EFO	8	EFO	nervous system disease	Xeroderma pigmentosum-Cockayne syndrome complex
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:220295	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	6149111	\N	\N	EFO	8	EFO	nervous system disease	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:2203	\N	\N	"" []	Orphanet:2203	"" []	74650	\N	\N	EFO	0	EFO	Hyperlysinemia	Hyperlysinemia
Orphanet:289832	Orphanet:2203	\N	"" []	Orphanet:2203	"" []	216714	\N	\N	EFO	1	EFO	Disorder of lysine and hydroxylysine metabolism	Hyperlysinemia
Orphanet:79062	Orphanet:289832	\N	"" []	Orphanet:2203	"" []	571234	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Hyperlysinemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2203	"" []	1153391	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hyperlysinemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2203	"" []	2035909	\N	\N	EFO	4	EFO	genetic disorder	Hyperlysinemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2203	"" []	2035910	\N	\N	EFO	4	EFO	metabolic disease	Hyperlysinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2203	"" []	3186327	\N	\N	EFO	5	EFO	disease	Hyperlysinemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2203	"" []	3186328	\N	\N	EFO	5	EFO	disease	Hyperlysinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2203	"" []	4393709	\N	\N	EFO	6	EFO	disposition	Hyperlysinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2203	"" []	5412095	\N	\N	EFO	7	EFO	material property	Hyperlysinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2203	"" []	6149112	\N	\N	EFO	8	EFO	experimental factor	Hyperlysinemia
Orphanet:220386	\N	\N	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	74651	\N	\N	EFO	0	EFO	Semilobar holoprosencephaly	Semilobar holoprosencephaly
Orphanet:2162	Orphanet:220386	\N	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	216715	\N	\N	EFO	1	EFO	Holoprosencephaly	Semilobar holoprosencephaly
Orphanet:102283	Orphanet:2162	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	571235	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Semilobar holoprosencephaly
Orphanet:166478	Orphanet:2162	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	571236	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Semilobar holoprosencephaly
Orphanet:183763	Orphanet:2162	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	571237	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Semilobar holoprosencephaly
Orphanet:268926	Orphanet:2162	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	571238	\N	\N	EFO	2	EFO	Midline cerebral malformation	Semilobar holoprosencephaly
Orphanet:95495	Orphanet:2162	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	571239	\N	\N	EFO	2	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Semilobar holoprosencephaly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	1153392	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Semilobar holoprosencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	1153393	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Semilobar holoprosencephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	1153394	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Semilobar holoprosencephaly
Orphanet:269553	Orphanet:268926	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	1153395	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Semilobar holoprosencephaly
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	1153396	\N	\N	EFO	3	EFO	Non-acquired combined pituitary hormone deficiency	Semilobar holoprosencephaly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	2035911	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Semilobar holoprosencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	2035912	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Semilobar holoprosencephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	2035913	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Semilobar holoprosencephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	2035914	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Semilobar holoprosencephaly
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	2035915	\N	\N	EFO	4	EFO	Non-acquired pituitary hormone deficiency	Semilobar holoprosencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	5412097	\N	\N	EFO	7	EFO	genetic disorder	Semilobar holoprosencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	5412098	\N	\N	EFO	7	EFO	genetic disorder	Semilobar holoprosencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	3186331	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Semilobar holoprosencephaly
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	3186332	\N	\N	EFO	5	EFO	Pituitary deficiency	Semilobar holoprosencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	6632496	\N	\N	EFO	9	EFO	disease	Semilobar holoprosencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	4393711	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Semilobar holoprosencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	4393712	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Semilobar holoprosencephaly
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	4393713	\N	\N	EFO	6	EFO	Rare genetic hypothalamic or pituitary disease	Semilobar holoprosencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	6807796	\N	\N	EFO	10	EFO	disposition	Semilobar holoprosencephaly
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	5412099	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Semilobar holoprosencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	7048600	\N	\N	EFO	11	EFO	material property	Semilobar holoprosencephaly
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	6149114	\N	\N	EFO	8	EFO	genetic disorder	Semilobar holoprosencephaly
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	6149115	\N	\N	EFO	8	EFO	endocrine system disease	Semilobar holoprosencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	7190200	\N	\N	EFO	12	EFO	experimental factor	Semilobar holoprosencephaly
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220386	"Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." []	6632497	\N	\N	EFO	9	EFO	disease	Semilobar holoprosencephaly
Orphanet:2204	\N	\N	"" []	Orphanet:2204	"" []	74652	\N	\N	EFO	0	EFO	Dysplastic cortical hyperostosis	Dysplastic cortical hyperostosis
Orphanet:93444	Orphanet:2204	\N	"" []	Orphanet:2204	"" []	216716	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Dysplastic cortical hyperostosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2204	"" []	571240	\N	\N	EFO	2	EFO	Primary bone dysplasia	Dysplastic cortical hyperostosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2204	"" []	1153397	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dysplastic cortical hyperostosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2204	"" []	1153398	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dysplastic cortical hyperostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2204	"" []	2035916	\N	\N	EFO	4	EFO	genetic disorder	Dysplastic cortical hyperostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2204	"" []	2035917	\N	\N	EFO	4	EFO	bone disease	Dysplastic cortical hyperostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2204	"" []	2035918	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dysplastic cortical hyperostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2204	"" []	4393716	\N	\N	EFO	6	EFO	disease	Dysplastic cortical hyperostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2204	"" []	3186334	\N	\N	EFO	5	EFO	skeletal system disease	Dysplastic cortical hyperostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2204	"" []	3186335	\N	\N	EFO	5	EFO	genetic disorder	Dysplastic cortical hyperostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2204	"" []	5181996	\N	\N	EFO	7	EFO	disposition	Dysplastic cortical hyperostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2204	"" []	4393715	\N	\N	EFO	6	EFO	disease	Dysplastic cortical hyperostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2204	"" []	5997374	\N	\N	EFO	8	EFO	material property	Dysplastic cortical hyperostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2204	"" []	6550801	\N	\N	EFO	9	EFO	experimental factor	Dysplastic cortical hyperostosis
Orphanet:220436	\N	\N	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	74653	\N	\N	EFO	0	EFO	Quebec platelet disorder	Quebec platelet disorder
Orphanet:98455	Orphanet:220436	\N	"" []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	216717	\N	\N	EFO	1	EFO	Alpha granule disease	Quebec platelet disorder
Orphanet:98454	Orphanet:98455	\N	"" []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	571241	\N	\N	EFO	2	EFO	Platelet storage pool disease	Quebec platelet disorder
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	1153399	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Quebec platelet disorder
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	2035919	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Quebec platelet disorder
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	3186336	\N	\N	EFO	5	EFO	Rare genetic coagulation disorder	Quebec platelet disorder
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	4393717	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Quebec platelet disorder
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	5412101	\N	\N	EFO	7	EFO	genetic disorder	Quebec platelet disorder
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	5412102	\N	\N	EFO	7	EFO	hematological system disease	Quebec platelet disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	6149117	\N	\N	EFO	8	EFO	disease	Quebec platelet disorder
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	6149118	\N	\N	EFO	8	EFO	disease	Quebec platelet disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	6632498	\N	\N	EFO	9	EFO	disposition	Quebec platelet disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	6925538	\N	\N	EFO	10	EFO	material property	Quebec platelet disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:220436	"Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." []	7099045	\N	\N	EFO	11	EFO	experimental factor	Quebec platelet disorder
Orphanet:220443	\N	\N	"" []	Orphanet:220443	"" []	74654	\N	\N	EFO	0	EFO	Bleeding diathesis due to thromboxane synthesis deficiency	Bleeding diathesis due to thromboxane synthesis deficiency
Orphanet:275729	Orphanet:220443	\N	"" []	Orphanet:220443	"" []	216718	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Bleeding diathesis due to thromboxane synthesis deficiency
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:220443	"" []	571242	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Bleeding diathesis due to thromboxane synthesis deficiency
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:220443	"" []	1153400	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Bleeding diathesis due to thromboxane synthesis deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:220443	"" []	2035920	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Bleeding diathesis due to thromboxane synthesis deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220443	"" []	3186337	\N	\N	EFO	5	EFO	genetic disorder	Bleeding diathesis due to thromboxane synthesis deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:220443	"" []	3186338	\N	\N	EFO	5	EFO	hematological system disease	Bleeding diathesis due to thromboxane synthesis deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220443	"" []	4393718	\N	\N	EFO	6	EFO	disease	Bleeding diathesis due to thromboxane synthesis deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220443	"" []	4393719	\N	\N	EFO	6	EFO	disease	Bleeding diathesis due to thromboxane synthesis deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:220443	"" []	5412103	\N	\N	EFO	7	EFO	disposition	Bleeding diathesis due to thromboxane synthesis deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:220443	"" []	6149119	\N	\N	EFO	8	EFO	material property	Bleeding diathesis due to thromboxane synthesis deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:220443	"" []	6632499	\N	\N	EFO	9	EFO	experimental factor	Bleeding diathesis due to thromboxane synthesis deficiency
Orphanet:220448	\N	\N	"" []	Orphanet:220448	"" []	74655	\N	\N	EFO	0	EFO	Macrothrombocytopenia with mitral valve insufficiency	Macrothrombocytopenia with mitral valve insufficiency
Orphanet:220452	Orphanet:220448	\N	"" []	Orphanet:220448	"" []	216719	\N	\N	EFO	1	EFO	Inherited giant platelet disorder	Macrothrombocytopenia with mitral valve insufficiency
Orphanet:275729	Orphanet:220452	\N	"" []	Orphanet:220448	"" []	571243	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Macrothrombocytopenia with mitral valve insufficiency
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:220448	"" []	1153401	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Macrothrombocytopenia with mitral valve insufficiency
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:220448	"" []	2035921	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Macrothrombocytopenia with mitral valve insufficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:220448	"" []	3186339	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Macrothrombocytopenia with mitral valve insufficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220448	"" []	4393720	\N	\N	EFO	6	EFO	genetic disorder	Macrothrombocytopenia with mitral valve insufficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:220448	"" []	4393721	\N	\N	EFO	6	EFO	hematological system disease	Macrothrombocytopenia with mitral valve insufficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220448	"" []	5412104	\N	\N	EFO	7	EFO	disease	Macrothrombocytopenia with mitral valve insufficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220448	"" []	5412105	\N	\N	EFO	7	EFO	disease	Macrothrombocytopenia with mitral valve insufficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:220448	"" []	6149120	\N	\N	EFO	8	EFO	disposition	Macrothrombocytopenia with mitral valve insufficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:220448	"" []	6632500	\N	\N	EFO	9	EFO	material property	Macrothrombocytopenia with mitral valve insufficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:220448	"" []	6925539	\N	\N	EFO	10	EFO	experimental factor	Macrothrombocytopenia with mitral valve insufficiency
Orphanet:220452	\N	\N	"" []	Orphanet:220452	"" []	74656	\N	\N	EFO	0	EFO	Inherited giant platelet disorder	Inherited giant platelet disorder
Orphanet:275729	Orphanet:220452	\N	"" []	Orphanet:220452	"" []	216720	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Inherited giant platelet disorder
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:220452	"" []	571244	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Inherited giant platelet disorder
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:220452	"" []	1153402	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Inherited giant platelet disorder
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:220452	"" []	2035922	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Inherited giant platelet disorder
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220452	"" []	3186340	\N	\N	EFO	5	EFO	genetic disorder	Inherited giant platelet disorder
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:220452	"" []	3186341	\N	\N	EFO	5	EFO	hematological system disease	Inherited giant platelet disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220452	"" []	4393722	\N	\N	EFO	6	EFO	disease	Inherited giant platelet disorder
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220452	"" []	4393723	\N	\N	EFO	6	EFO	disease	Inherited giant platelet disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:220452	"" []	5412106	\N	\N	EFO	7	EFO	disposition	Inherited giant platelet disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:220452	"" []	6149121	\N	\N	EFO	8	EFO	material property	Inherited giant platelet disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:220452	"" []	6632501	\N	\N	EFO	9	EFO	experimental factor	Inherited giant platelet disorder
Orphanet:220460	\N	\N	"-related attenuated familial adenomatous polyposis." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	74657	\N	\N	EFO	0	EFO	Attenuated familial adenomatous polyposis	Attenuated familial adenomatous polyposis
Orphanet:140162	Orphanet:220460	\N	"" []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	216721	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Attenuated familial adenomatous polyposis
Orphanet:271835	Orphanet:220460	\N	"" []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	216722	\N	\N	EFO	1	EFO	Genetic digestive tract tumor	Attenuated familial adenomatous polyposis
Orphanet:363314	Orphanet:220460	\N	"" []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	216723	\N	\N	EFO	1	EFO	Genetic intestinal polyposis	Attenuated familial adenomatous polyposis
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	571245	\N	\N	EFO	2	EFO	genetic disorder	Attenuated familial adenomatous polyposis
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	571246	\N	\N	EFO	2	EFO	digestive system disease	Attenuated familial adenomatous polyposis
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	571247	\N	\N	EFO	2	EFO	Rare genetic tumor	Attenuated familial adenomatous polyposis
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	571248	\N	\N	EFO	2	EFO	Genetic intestinal disease	Attenuated familial adenomatous polyposis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	3186343	\N	\N	EFO	5	EFO	disease	Attenuated familial adenomatous polyposis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	2035926	\N	\N	EFO	4	EFO	disease	Attenuated familial adenomatous polyposis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	1153405	\N	\N	EFO	3	EFO	genetic disorder	Attenuated familial adenomatous polyposis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	1153406	\N	\N	EFO	3	EFO	neoplasm	Attenuated familial adenomatous polyposis
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	1153407	\N	\N	EFO	3	EFO	digestive system disease	Attenuated familial adenomatous polyposis
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	1153408	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Attenuated familial adenomatous polyposis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	4066881	\N	\N	EFO	6	EFO	disposition	Attenuated familial adenomatous polyposis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	2035925	\N	\N	EFO	4	EFO	disease	Attenuated familial adenomatous polyposis
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	2035927	\N	\N	EFO	4	EFO	genetic disorder	Attenuated familial adenomatous polyposis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	5059762	\N	\N	EFO	7	EFO	material property	Attenuated familial adenomatous polyposis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:220460	"-related attenuated familial adenomatous polyposis." []	5876984	\N	\N	EFO	8	EFO	experimental factor	Attenuated familial adenomatous polyposis
Orphanet:220465	\N	\N	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	74658	\N	\N	EFO	0	EFO	Laron syndrome with immunodeficiency	Laron syndrome with immunodeficiency
Orphanet:101972	Orphanet:220465	\N	"" []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	216724	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Laron syndrome with immunodeficiency
Orphanet:181393	Orphanet:220465	\N	"" []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	216725	\N	\N	EFO	1	EFO	Growth hormone insensitivity syndrome	Laron syndrome with immunodeficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	571249	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Laron syndrome with immunodeficiency
Orphanet:183628	Orphanet:181393	\N	"" []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	571250	\N	\N	EFO	2	EFO	Rare genetic hypothalamic or pituitary disease	Laron syndrome with immunodeficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	1153409	\N	\N	EFO	3	EFO	Primary immunodeficiency	Laron syndrome with immunodeficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	1153410	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Laron syndrome with immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	2035928	\N	\N	EFO	4	EFO	Rare genetic immune disease	Laron syndrome with immunodeficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	2035929	\N	\N	EFO	4	EFO	genetic disorder	Laron syndrome with immunodeficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	2035930	\N	\N	EFO	4	EFO	endocrine system disease	Laron syndrome with immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	3186344	\N	\N	EFO	5	EFO	genetic disorder	Laron syndrome with immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	3186345	\N	\N	EFO	5	EFO	immune system disease	Laron syndrome with immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	4393725	\N	\N	EFO	6	EFO	disease	Laron syndrome with immunodeficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	3186347	\N	\N	EFO	5	EFO	disease	Laron syndrome with immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	4393726	\N	\N	EFO	6	EFO	disease	Laron syndrome with immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	5181998	\N	\N	EFO	7	EFO	disposition	Laron syndrome with immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	5997375	\N	\N	EFO	8	EFO	material property	Laron syndrome with immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:220465	"This syndrome is characterized by severe growth retardation associated with immunodeficiency." []	6550802	\N	\N	EFO	9	EFO	experimental factor	Laron syndrome with immunodeficiency
Orphanet:220489	\N	\N	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	74659	\N	\N	EFO	0	EFO	Rare hereditary hemochromatosis	Rare hereditary hemochromatosis
Orphanet:101940	Orphanet:220489	\N	"" []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	216726	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Rare hereditary hemochromatosis
Orphanet:309842	Orphanet:220489	\N	"" []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	216727	\N	\N	EFO	1	EFO	Disorder of iron metabolism and transport	Rare hereditary hemochromatosis
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	571251	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Rare hereditary hemochromatosis
Orphanet:309836	Orphanet:309842	\N	"" []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	571252	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Rare hereditary hemochromatosis
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	1153411	\N	\N	EFO	3	EFO	digestive system disease	Rare hereditary hemochromatosis
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	1153412	\N	\N	EFO	3	EFO	genetic disorder	Rare hereditary hemochromatosis
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	1153413	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Rare hereditary hemochromatosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	2035931	\N	\N	EFO	4	EFO	disease	Rare hereditary hemochromatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	4393729	\N	\N	EFO	6	EFO	disease	Rare hereditary hemochromatosis
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	2035933	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Rare hereditary hemochromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	5059763	\N	\N	EFO	7	EFO	disposition	Rare hereditary hemochromatosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	3186349	\N	\N	EFO	5	EFO	genetic disorder	Rare hereditary hemochromatosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	3186350	\N	\N	EFO	5	EFO	metabolic disease	Rare hereditary hemochromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	5876985	\N	\N	EFO	8	EFO	material property	Rare hereditary hemochromatosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	4393730	\N	\N	EFO	6	EFO	disease	Rare hereditary hemochromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:220489	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	6470189	\N	\N	EFO	9	EFO	experimental factor	Rare hereditary hemochromatosis
Orphanet:220493	\N	\N	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	74660	\N	\N	EFO	0	EFO	Joubert syndrome with ocular defect	Joubert syndrome with ocular defect
Orphanet:140874	Orphanet:220493	\N	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	216728	\N	\N	EFO	1	EFO	Joubert syndrome and related disorders	Joubert syndrome with ocular defect
Orphanet:269567	Orphanet:220493	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	216729	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Joubert syndrome with ocular defect
Orphanet:98661	Orphanet:220493	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	216730	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Joubert syndrome with ocular defect
Orphanet:98683	Orphanet:220493	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	216731	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Joubert syndrome with ocular defect
Orphanet:98688	Orphanet:220493	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	216732	\N	\N	EFO	1	EFO	Oculomotor apraxia or related oculomotor disease	Joubert syndrome with ocular defect
Orphanet:98095	Orphanet:140874	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	571253	\N	\N	EFO	2	EFO	Autosomal recessive congenital cerebellar ataxia	Joubert syndrome with ocular defect
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	571254	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Joubert syndrome with ocular defect
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	571255	\N	\N	EFO	2	EFO	Retinal dystrophy	Joubert syndrome with ocular defect
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	571256	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Joubert syndrome with ocular defect
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	571257	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Joubert syndrome with ocular defect
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	1153414	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Joubert syndrome with ocular defect
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	1153415	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Joubert syndrome with ocular defect
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	1153416	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Joubert syndrome with ocular defect
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	1153417	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Joubert syndrome with ocular defect
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	5412111	\N	\N	EFO	7	EFO	Rare genetic eye disease	Joubert syndrome with ocular defect
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	2035934	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Joubert syndrome with ocular defect
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	2035935	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Joubert syndrome with ocular defect
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	2035936	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Joubert syndrome with ocular defect
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	2035937	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Joubert syndrome with ocular defect
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	2035938	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Joubert syndrome with ocular defect
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	2035939	\N	\N	EFO	4	EFO	Rare genetic eye disease	Joubert syndrome with ocular defect
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	5801849	\N	\N	EFO	8	EFO	genetic disorder	Joubert syndrome with ocular defect
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	5801850	\N	\N	EFO	8	EFO	eye disease	Joubert syndrome with ocular defect
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	3186351	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Joubert syndrome with ocular defect
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	3186352	\N	\N	EFO	5	EFO	Ataxia with dementia	Joubert syndrome with ocular defect
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	3186353	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Joubert syndrome with ocular defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	3186354	\N	\N	EFO	5	EFO	genetic disorder	Joubert syndrome with ocular defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	6632503	\N	\N	EFO	9	EFO	genetic disorder	Joubert syndrome with ocular defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	6778643	\N	\N	EFO	10	EFO	disease	Joubert syndrome with ocular defect
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	6378847	\N	\N	EFO	9	EFO	disease	Joubert syndrome with ocular defect
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	4393732	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Joubert syndrome with ocular defect
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	4393733	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Joubert syndrome with ocular defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	7015673	\N	\N	EFO	11	EFO	disposition	Joubert syndrome with ocular defect
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	5412109	\N	\N	EFO	7	EFO	Genetic dementia	Joubert syndrome with ocular defect
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	5412110	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Joubert syndrome with ocular defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	7173621	\N	\N	EFO	12	EFO	material property	Joubert syndrome with ocular defect
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	6149123	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome with ocular defect
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	6149124	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome with ocular defect
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	6149125	\N	\N	EFO	8	EFO	neurodegenerative disease	Joubert syndrome with ocular defect
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	6149126	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome with ocular defect
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	6149127	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome with ocular defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	7275672	\N	\N	EFO	13	EFO	experimental factor	Joubert syndrome with ocular defect
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	6632502	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome with ocular defect
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	6632504	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome with ocular defect
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220493	"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." []	6925540	\N	\N	EFO	10	EFO	disease	Joubert syndrome with ocular defect
Orphanet:220497	\N	\N	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	74661	\N	\N	EFO	0	EFO	Joubert syndrome with renal defect	Joubert syndrome with renal defect
Orphanet:140874	Orphanet:220497	\N	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	216733	\N	\N	EFO	1	EFO	Joubert syndrome and related disorders	Joubert syndrome with renal defect
Orphanet:269567	Orphanet:220497	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	216734	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Joubert syndrome with renal defect
Orphanet:93587	Orphanet:220497	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	216735	\N	\N	EFO	1	EFO	Familial cystic renal disease	Joubert syndrome with renal defect
Orphanet:98095	Orphanet:140874	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	571258	\N	\N	EFO	2	EFO	Autosomal recessive congenital cerebellar ataxia	Joubert syndrome with renal defect
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	571259	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Joubert syndrome with renal defect
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	571260	\N	\N	EFO	2	EFO	kidney disease	Joubert syndrome with renal defect
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	571261	\N	\N	EFO	2	EFO	Rare genetic renal disease	Joubert syndrome with renal defect
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	1153419	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Joubert syndrome with renal defect
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	1153420	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Joubert syndrome with renal defect
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	1153421	\N	\N	EFO	3	EFO	disease	Joubert syndrome with renal defect
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	1153422	\N	\N	EFO	3	EFO	genetic disorder	Joubert syndrome with renal defect
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	2035943	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Joubert syndrome with renal defect
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	2035944	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Joubert syndrome with renal defect
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	2035945	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Joubert syndrome with renal defect
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	2035946	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Joubert syndrome with renal defect
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	2035947	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Joubert syndrome with renal defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	7008638	\N	\N	EFO	11	EFO	disposition	Joubert syndrome with renal defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6778645	\N	\N	EFO	10	EFO	disease	Joubert syndrome with renal defect
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	3186358	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Joubert syndrome with renal defect
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	3186359	\N	\N	EFO	5	EFO	Ataxia with dementia	Joubert syndrome with renal defect
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	3186360	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Joubert syndrome with renal defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	3186361	\N	\N	EFO	5	EFO	genetic disorder	Joubert syndrome with renal defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6632506	\N	\N	EFO	9	EFO	genetic disorder	Joubert syndrome with renal defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	7164487	\N	\N	EFO	12	EFO	material property	Joubert syndrome with renal defect
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	4393736	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Joubert syndrome with renal defect
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	4393737	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Joubert syndrome with renal defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	7269841	\N	\N	EFO	13	EFO	experimental factor	Joubert syndrome with renal defect
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	5412113	\N	\N	EFO	7	EFO	Genetic dementia	Joubert syndrome with renal defect
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	5412114	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Joubert syndrome with renal defect
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	5412115	\N	\N	EFO	7	EFO	Rare genetic eye disease	Joubert syndrome with renal defect
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6149129	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome with renal defect
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6149130	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome with renal defect
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6149131	\N	\N	EFO	8	EFO	neurodegenerative disease	Joubert syndrome with renal defect
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6149132	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome with renal defect
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6149133	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome with renal defect
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6149134	\N	\N	EFO	8	EFO	genetic disorder	Joubert syndrome with renal defect
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6149135	\N	\N	EFO	8	EFO	eye disease	Joubert syndrome with renal defect
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6632505	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome with renal defect
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6632507	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome with renal defect
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6632509	\N	\N	EFO	9	EFO	disease	Joubert syndrome with renal defect
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:220497	"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." []	6925541	\N	\N	EFO	10	EFO	disease	Joubert syndrome with renal defect
Orphanet:2206	\N	\N	"" []	Orphanet:2206	"" []	74662	\N	\N	EFO	0	EFO	Ankylosing vertebral hyperostosis with tylosis	Ankylosing vertebral hyperostosis with tylosis
Orphanet:93454	Orphanet:2206	\N	"" []	Orphanet:2206	"" []	216736	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Ankylosing vertebral hyperostosis with tylosis
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:2206	"" []	571262	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Ankylosing vertebral hyperostosis with tylosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2206	"" []	1153423	\N	\N	EFO	3	EFO	Rare genetic bone disease	Ankylosing vertebral hyperostosis with tylosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2206	"" []	1153424	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Ankylosing vertebral hyperostosis with tylosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2206	"" []	2035950	\N	\N	EFO	4	EFO	genetic disorder	Ankylosing vertebral hyperostosis with tylosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2206	"" []	2035951	\N	\N	EFO	4	EFO	bone disease	Ankylosing vertebral hyperostosis with tylosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2206	"" []	2035952	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ankylosing vertebral hyperostosis with tylosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2206	"" []	4393742	\N	\N	EFO	6	EFO	disease	Ankylosing vertebral hyperostosis with tylosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2206	"" []	3186366	\N	\N	EFO	5	EFO	skeletal system disease	Ankylosing vertebral hyperostosis with tylosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2206	"" []	3186367	\N	\N	EFO	5	EFO	genetic disorder	Ankylosing vertebral hyperostosis with tylosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2206	"" []	5182003	\N	\N	EFO	7	EFO	disposition	Ankylosing vertebral hyperostosis with tylosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2206	"" []	4393741	\N	\N	EFO	6	EFO	disease	Ankylosing vertebral hyperostosis with tylosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2206	"" []	5997377	\N	\N	EFO	8	EFO	material property	Ankylosing vertebral hyperostosis with tylosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2206	"" []	6550804	\N	\N	EFO	9	EFO	experimental factor	Ankylosing vertebral hyperostosis with tylosis
Orphanet:2207	\N	\N	"" []	Orphanet:2207	"" []	74663	\N	\N	EFO	0	EFO	Familial primary hyperparathyroidism	Familial primary hyperparathyroidism
Orphanet:208596	Orphanet:2207	\N	"" []	Orphanet:2207	"" []	216737	\N	\N	EFO	1	EFO	Genetic hyperparathyroidism	Familial primary hyperparathyroidism
EFO:0005754	Orphanet:208596	\N	"a disease that occurs in the parathyroid" []	Orphanet:2207	"" []	571263	\N	\N	EFO	2	EFO	parathyroid disease	Familial primary hyperparathyroidism
Orphanet:183634	Orphanet:208596	\N	"" []	Orphanet:2207	"" []	571264	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Familial primary hyperparathyroidism
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:2207	"" []	1153425	\N	\N	EFO	3	EFO	calcium metabolic disease	Familial primary hyperparathyroidism
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:2207	"" []	1153426	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial primary hyperparathyroidism
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2207	"" []	2035953	\N	\N	EFO	4	EFO	metabolic disease	Familial primary hyperparathyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2207	"" []	2035954	\N	\N	EFO	4	EFO	genetic disorder	Familial primary hyperparathyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2207	"" []	2035955	\N	\N	EFO	4	EFO	endocrine system disease	Familial primary hyperparathyroidism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2207	"" []	3186368	\N	\N	EFO	5	EFO	disease	Familial primary hyperparathyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2207	"" []	3186369	\N	\N	EFO	5	EFO	disease	Familial primary hyperparathyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2207	"" []	3186370	\N	\N	EFO	5	EFO	disease	Familial primary hyperparathyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2207	"" []	4393743	\N	\N	EFO	6	EFO	disposition	Familial primary hyperparathyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2207	"" []	5412117	\N	\N	EFO	7	EFO	material property	Familial primary hyperparathyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2207	"" []	6149137	\N	\N	EFO	8	EFO	experimental factor	Familial primary hyperparathyroidism
Orphanet:2209	\N	\N	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	Orphanet:2209	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	74664	\N	\N	EFO	0	EFO	Maternal hyperphenylalaninemia	Maternal hyperphenylalaninemia
Orphanet:284814	Orphanet:2209	\N	"" []	Orphanet:2209	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	216738	\N	\N	EFO	1	EFO	Disorder of phenylalanine metabolism	Maternal hyperphenylalaninemia
Orphanet:79190	Orphanet:284814	\N	"" []	Orphanet:2209	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	571265	\N	\N	EFO	2	EFO	Disorder of phenylalanin or tyrosine metabolism	Maternal hyperphenylalaninemia
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:2209	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	1153427	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Maternal hyperphenylalaninemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2209	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	2035956	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Maternal hyperphenylalaninemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2209	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	3186371	\N	\N	EFO	5	EFO	genetic disorder	Maternal hyperphenylalaninemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2209	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	3186372	\N	\N	EFO	5	EFO	metabolic disease	Maternal hyperphenylalaninemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2209	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	4393744	\N	\N	EFO	6	EFO	disease	Maternal hyperphenylalaninemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2209	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	4393745	\N	\N	EFO	6	EFO	disease	Maternal hyperphenylalaninemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2209	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	5412118	\N	\N	EFO	7	EFO	disposition	Maternal hyperphenylalaninemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2209	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	6149138	\N	\N	EFO	8	EFO	material property	Maternal hyperphenylalaninemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2209	"Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations." []	6632510	\N	\N	EFO	9	EFO	experimental factor	Maternal hyperphenylalaninemia
Orphanet:221008	\N	\N	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	74665	\N	\N	EFO	0	EFO	Rothmund-Thomson syndrome type 1	Rothmund-Thomson syndrome type 1
Orphanet:2909	Orphanet:221008	\N	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	216739	\N	\N	EFO	1	EFO	Rothmund-Thomson syndrome	Rothmund-Thomson syndrome type 1
Orphanet:183490	Orphanet:2909	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	571266	\N	\N	EFO	2	EFO	Genetic photodermatosis	Rothmund-Thomson syndrome type 1
Orphanet:222628	Orphanet:2909	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	571267	\N	\N	EFO	2	EFO	Hereditary poikiloderma	Rothmund-Thomson syndrome type 1
Orphanet:363245	Orphanet:2909	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	571268	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Rothmund-Thomson syndrome type 1
Orphanet:98649	Orphanet:2909	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	571269	\N	\N	EFO	2	EFO	Dentocutaneous disease with cataract	Rothmund-Thomson syndrome type 1
Orphanet:98709	Orphanet:2909	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	571270	\N	\N	EFO	2	EFO	Ectodermal malformation syndrome associated with ocular features	Rothmund-Thomson syndrome type 1
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	1153428	\N	\N	EFO	3	EFO	Rare genetic skin disease	Rothmund-Thomson syndrome type 1
Orphanet:183426	Orphanet:222628	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	1153429	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Rothmund-Thomson syndrome type 1
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	1153430	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Rothmund-Thomson syndrome type 1
Orphanet:98643	Orphanet:98649	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	1153431	\N	\N	EFO	3	EFO	Systemic disease with cataract	Rothmund-Thomson syndrome type 1
Orphanet:101435	Orphanet:98709	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	1153432	\N	\N	EFO	3	EFO	Rare genetic eye disease	Rothmund-Thomson syndrome type 1
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	3186375	\N	\N	EFO	5	EFO	genetic disorder	Rothmund-Thomson syndrome type 1
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	3186376	\N	\N	EFO	5	EFO	skin disease	Rothmund-Thomson syndrome type 1
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	2035959	\N	\N	EFO	4	EFO	Rare genetic skin disease	Rothmund-Thomson syndrome type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	2035960	\N	\N	EFO	4	EFO	genetic disorder	Rothmund-Thomson syndrome type 1
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	2035961	\N	\N	EFO	4	EFO	Syndromic cataract	Rothmund-Thomson syndrome type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	6149140	\N	\N	EFO	8	EFO	genetic disorder	Rothmund-Thomson syndrome type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	6149141	\N	\N	EFO	8	EFO	eye disease	Rothmund-Thomson syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	6378849	\N	\N	EFO	9	EFO	disease	Rothmund-Thomson syndrome type 1
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	4133541	\N	\N	EFO	6	EFO	disease	Rothmund-Thomson syndrome type 1
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	3186377	\N	\N	EFO	5	EFO	Rare cataract	Rothmund-Thomson syndrome type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	6378850	\N	\N	EFO	9	EFO	disease	Rothmund-Thomson syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	6778647	\N	\N	EFO	10	EFO	disposition	Rothmund-Thomson syndrome type 1
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	4393747	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Rothmund-Thomson syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	7029858	\N	\N	EFO	11	EFO	material property	Rothmund-Thomson syndrome type 1
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	5412120	\N	\N	EFO	7	EFO	Rare genetic eye disease	Rothmund-Thomson syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:221008	"Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." []	7181758	\N	\N	EFO	12	EFO	experimental factor	Rothmund-Thomson syndrome type 1
Orphanet:221016	\N	\N	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	74666	\N	\N	EFO	0	EFO	Rothmund-Thomson syndrome type 2	Rothmund-Thomson syndrome type 2
Orphanet:183422	Orphanet:221016	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	216740	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Rothmund-Thomson syndrome type 2
Orphanet:2909	Orphanet:221016	\N	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	216741	\N	\N	EFO	1	EFO	Rothmund-Thomson syndrome	Rothmund-Thomson syndrome type 2
Orphanet:98703	Orphanet:221016	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	216742	\N	\N	EFO	1	EFO	Disease with potential neoplastic degeneration associated with ocular features	Rothmund-Thomson syndrome type 2
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	571271	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Rothmund-Thomson syndrome type 2
Orphanet:183490	Orphanet:2909	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	571272	\N	\N	EFO	2	EFO	Genetic photodermatosis	Rothmund-Thomson syndrome type 2
Orphanet:222628	Orphanet:2909	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	571273	\N	\N	EFO	2	EFO	Hereditary poikiloderma	Rothmund-Thomson syndrome type 2
Orphanet:363245	Orphanet:2909	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	571274	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Rothmund-Thomson syndrome type 2
Orphanet:98649	Orphanet:2909	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	571275	\N	\N	EFO	2	EFO	Dentocutaneous disease with cataract	Rothmund-Thomson syndrome type 2
Orphanet:98709	Orphanet:2909	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	571276	\N	\N	EFO	2	EFO	Ectodermal malformation syndrome associated with ocular features	Rothmund-Thomson syndrome type 2
Orphanet:98696	Orphanet:98703	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	571277	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Rothmund-Thomson syndrome type 2
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	1153433	\N	\N	EFO	3	EFO	genetic disorder	Rothmund-Thomson syndrome type 2
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	1153434	\N	\N	EFO	3	EFO	Rare genetic skin disease	Rothmund-Thomson syndrome type 2
Orphanet:183426	Orphanet:222628	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	1153435	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Rothmund-Thomson syndrome type 2
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	1153436	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Rothmund-Thomson syndrome type 2
Orphanet:98643	Orphanet:98649	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	1153437	\N	\N	EFO	3	EFO	Systemic disease with cataract	Rothmund-Thomson syndrome type 2
Orphanet:101435	Orphanet:98709	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	1153438	\N	\N	EFO	3	EFO	Rare genetic eye disease	Rothmund-Thomson syndrome type 2
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	1153439	\N	\N	EFO	3	EFO	Rare genetic eye disease	Rothmund-Thomson syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	6378851	\N	\N	EFO	9	EFO	disease	Rothmund-Thomson syndrome type 2
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	3186382	\N	\N	EFO	5	EFO	genetic disorder	Rothmund-Thomson syndrome type 2
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	3186383	\N	\N	EFO	5	EFO	skin disease	Rothmund-Thomson syndrome type 2
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	2035967	\N	\N	EFO	4	EFO	Rare genetic skin disease	Rothmund-Thomson syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	2035968	\N	\N	EFO	4	EFO	genetic disorder	Rothmund-Thomson syndrome type 2
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	2035969	\N	\N	EFO	4	EFO	Syndromic cataract	Rothmund-Thomson syndrome type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	6149142	\N	\N	EFO	8	EFO	genetic disorder	Rothmund-Thomson syndrome type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	6149143	\N	\N	EFO	8	EFO	eye disease	Rothmund-Thomson syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	6762366	\N	\N	EFO	10	EFO	disposition	Rothmund-Thomson syndrome type 2
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	4133544	\N	\N	EFO	6	EFO	disease	Rothmund-Thomson syndrome type 2
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	3186384	\N	\N	EFO	5	EFO	Rare cataract	Rothmund-Thomson syndrome type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	6378852	\N	\N	EFO	9	EFO	disease	Rothmund-Thomson syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	7015674	\N	\N	EFO	11	EFO	material property	Rothmund-Thomson syndrome type 2
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	4393749	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Rothmund-Thomson syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	7173622	\N	\N	EFO	12	EFO	experimental factor	Rothmund-Thomson syndrome type 2
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:221016	"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." []	5412122	\N	\N	EFO	7	EFO	Rare genetic eye disease	Rothmund-Thomson syndrome type 2
Orphanet:221039	\N	\N	"" []	Orphanet:221039	"" []	74667	\N	\N	EFO	0	EFO	Hereditary sclerosing poikiloderma, Weary type	Hereditary sclerosing poikiloderma, Weary type
Orphanet:222628	Orphanet:221039	\N	"" []	Orphanet:221039	"" []	216743	\N	\N	EFO	1	EFO	Hereditary poikiloderma	Hereditary sclerosing poikiloderma, Weary type
Orphanet:183426	Orphanet:222628	\N	"" []	Orphanet:221039	"" []	571278	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Hereditary sclerosing poikiloderma, Weary type
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:221039	"" []	1153440	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hereditary sclerosing poikiloderma, Weary type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221039	"" []	2035972	\N	\N	EFO	4	EFO	genetic disorder	Hereditary sclerosing poikiloderma, Weary type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:221039	"" []	2035973	\N	\N	EFO	4	EFO	skin disease	Hereditary sclerosing poikiloderma, Weary type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221039	"" []	3186386	\N	\N	EFO	5	EFO	disease	Hereditary sclerosing poikiloderma, Weary type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221039	"" []	3186387	\N	\N	EFO	5	EFO	disease	Hereditary sclerosing poikiloderma, Weary type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:221039	"" []	4393750	\N	\N	EFO	6	EFO	disposition	Hereditary sclerosing poikiloderma, Weary type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:221039	"" []	5412123	\N	\N	EFO	7	EFO	material property	Hereditary sclerosing poikiloderma, Weary type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:221039	"" []	6149144	\N	\N	EFO	8	EFO	experimental factor	Hereditary sclerosing poikiloderma, Weary type
Orphanet:221043	\N	\N	"" []	Orphanet:221043	"" []	74668	\N	\N	EFO	0	EFO	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Orphanet:222628	Orphanet:221043	\N	"" []	Orphanet:221043	"" []	216744	\N	\N	EFO	1	EFO	Hereditary poikiloderma	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Orphanet:264992	Orphanet:221043	\N	"" []	Orphanet:221043	"" []	216745	\N	\N	EFO	1	EFO	Genetic interstitial lung disease	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Orphanet:183426	Orphanet:222628	\N	"" []	Orphanet:221043	"" []	571279	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Orphanet:156610	Orphanet:264992	\N	"" []	Orphanet:221043	"" []	571280	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:221043	"" []	1153441	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221043	"" []	1153442	\N	\N	EFO	3	EFO	genetic disorder	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:221043	"" []	1153443	\N	\N	EFO	3	EFO	respiratory system disease	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221043	"" []	2035974	\N	\N	EFO	4	EFO	genetic disorder	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:221043	"" []	2035975	\N	\N	EFO	4	EFO	skin disease	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221043	"" []	3186388	\N	\N	EFO	5	EFO	disease	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221043	"" []	2035977	\N	\N	EFO	4	EFO	disease	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221043	"" []	3186389	\N	\N	EFO	5	EFO	disease	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:221043	"" []	4133545	\N	\N	EFO	6	EFO	disposition	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:221043	"" []	5182006	\N	\N	EFO	7	EFO	material property	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:221043	"" []	5997380	\N	\N	EFO	8	EFO	experimental factor	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Orphanet:221046	\N	\N	"" []	Orphanet:221046	"" []	74669	\N	\N	EFO	0	EFO	Poikiloderma with neutropenia	Poikiloderma with neutropenia
Orphanet:222628	Orphanet:221046	\N	"" []	Orphanet:221046	"" []	216746	\N	\N	EFO	1	EFO	Hereditary poikiloderma	Poikiloderma with neutropenia
Orphanet:331184	Orphanet:221046	\N	"" []	Orphanet:221046	"" []	216747	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Poikiloderma with neutropenia
Orphanet:183426	Orphanet:222628	\N	"" []	Orphanet:221046	"" []	571281	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Poikiloderma with neutropenia
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:221046	"" []	571282	\N	\N	EFO	2	EFO	Constitutional neutropenia	Poikiloderma with neutropenia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:221046	"" []	1153444	\N	\N	EFO	3	EFO	Rare genetic skin disease	Poikiloderma with neutropenia
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:221046	"" []	1153445	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Poikiloderma with neutropenia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221046	"" []	2035978	\N	\N	EFO	4	EFO	genetic disorder	Poikiloderma with neutropenia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:221046	"" []	2035979	\N	\N	EFO	4	EFO	skin disease	Poikiloderma with neutropenia
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:221046	"" []	2035980	\N	\N	EFO	4	EFO	Primary immunodeficiency	Poikiloderma with neutropenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221046	"" []	5412126	\N	\N	EFO	7	EFO	disease	Poikiloderma with neutropenia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221046	"" []	3186392	\N	\N	EFO	5	EFO	disease	Poikiloderma with neutropenia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:221046	"" []	3186393	\N	\N	EFO	5	EFO	Rare genetic immune disease	Poikiloderma with neutropenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:221046	"" []	5876988	\N	\N	EFO	8	EFO	disposition	Poikiloderma with neutropenia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221046	"" []	4393753	\N	\N	EFO	6	EFO	genetic disorder	Poikiloderma with neutropenia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:221046	"" []	4393754	\N	\N	EFO	6	EFO	immune system disease	Poikiloderma with neutropenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:221046	"" []	6470192	\N	\N	EFO	9	EFO	material property	Poikiloderma with neutropenia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221046	"" []	5412127	\N	\N	EFO	7	EFO	disease	Poikiloderma with neutropenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:221046	"" []	6848400	\N	\N	EFO	10	EFO	experimental factor	Poikiloderma with neutropenia
Orphanet:221054	\N	\N	"" []	Orphanet:221054	"" []	74670	\N	\N	EFO	0	EFO	Acrocephalopolydactyly	Acrocephalopolydactyly
Orphanet:139393	Orphanet:221054	\N	"" []	Orphanet:221054	"" []	216748	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Acrocephalopolydactyly
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:221054	"" []	571283	\N	\N	EFO	2	EFO	Craniosynostosis	Acrocephalopolydactyly
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:221054	"" []	1153446	\N	\N	EFO	3	EFO	Genetic cranial malformation	Acrocephalopolydactyly
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:221054	"" []	1153447	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Acrocephalopolydactyly
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:221054	"" []	2035981	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acrocephalopolydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:221054	"" []	2035982	\N	\N	EFO	4	EFO	Rare genetic bone disease	Acrocephalopolydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:221054	"" []	2035983	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Acrocephalopolydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221054	"" []	4393757	\N	\N	EFO	6	EFO	genetic disorder	Acrocephalopolydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221054	"" []	3186395	\N	\N	EFO	5	EFO	genetic disorder	Acrocephalopolydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:221054	"" []	3186396	\N	\N	EFO	5	EFO	bone disease	Acrocephalopolydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:221054	"" []	3186397	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrocephalopolydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221054	"" []	5182007	\N	\N	EFO	7	EFO	disease	Acrocephalopolydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:221054	"" []	4393756	\N	\N	EFO	6	EFO	skeletal system disease	Acrocephalopolydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:221054	"" []	5997381	\N	\N	EFO	8	EFO	disposition	Acrocephalopolydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221054	"" []	5412129	\N	\N	EFO	7	EFO	disease	Acrocephalopolydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:221054	"" []	6550806	\N	\N	EFO	9	EFO	material property	Acrocephalopolydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:221054	"" []	6889125	\N	\N	EFO	10	EFO	experimental factor	Acrocephalopolydactyly
Orphanet:221061	\N	\N	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	Orphanet:221061	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	74671	\N	\N	EFO	0	EFO	Hereditary cerebral cavernous malformation	Hereditary cerebral cavernous malformation
Orphanet:371436	Orphanet:221061	\N	"" []	Orphanet:221061	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	216749	\N	\N	EFO	1	EFO	Genetic neurovascular malformation	Hereditary cerebral cavernous malformation
Orphanet:183503	Orphanet:371436	\N	"" []	Orphanet:221061	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	571284	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Hereditary cerebral cavernous malformation
Orphanet:211240	Orphanet:371436	\N	"" []	Orphanet:221061	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	571285	\N	\N	EFO	2	EFO	Genetic vascular anomaly	Hereditary cerebral cavernous malformation
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:221061	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	1153448	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary cerebral cavernous malformation
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:221061	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	1153449	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hereditary cerebral cavernous malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221061	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	2035984	\N	\N	EFO	4	EFO	genetic disorder	Hereditary cerebral cavernous malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221061	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	2035985	\N	\N	EFO	4	EFO	genetic disorder	Hereditary cerebral cavernous malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221061	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	3186398	\N	\N	EFO	5	EFO	disease	Hereditary cerebral cavernous malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:221061	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	4393758	\N	\N	EFO	6	EFO	disposition	Hereditary cerebral cavernous malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:221061	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	5412130	\N	\N	EFO	7	EFO	material property	Hereditary cerebral cavernous malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:221061	"Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries. Clinical manifestations include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." []	6149147	\N	\N	EFO	8	EFO	experimental factor	Hereditary cerebral cavernous malformation
Orphanet:2211	\N	\N	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	74672	\N	\N	EFO	0	EFO	Hypertelorism - hypospadias - polysyndactyly syndrome	Hypertelorism - hypospadias - polysyndactyly syndrome
Orphanet:165707	Orphanet:2211	\N	"" []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	216750	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Hypertelorism - hypospadias - polysyndactyly syndrome
Orphanet:330206	Orphanet:2211	\N	"" []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	216751	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Hypertelorism - hypospadias - polysyndactyly syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	571286	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Hypertelorism - hypospadias - polysyndactyly syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	571287	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hypertelorism - hypospadias - polysyndactyly syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	1153450	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Hypertelorism - hypospadias - polysyndactyly syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	1153451	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypertelorism - hypospadias - polysyndactyly syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	2035986	\N	\N	EFO	4	EFO	genetic disorder	Hypertelorism - hypospadias - polysyndactyly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	2035987	\N	\N	EFO	4	EFO	genetic disorder	Hypertelorism - hypospadias - polysyndactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	3186399	\N	\N	EFO	5	EFO	disease	Hypertelorism - hypospadias - polysyndactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	4393759	\N	\N	EFO	6	EFO	disposition	Hypertelorism - hypospadias - polysyndactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	5412131	\N	\N	EFO	7	EFO	material property	Hypertelorism - hypospadias - polysyndactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2211	"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []	6149148	\N	\N	EFO	8	EFO	experimental factor	Hypertelorism - hypospadias - polysyndactyly syndrome
Orphanet:221120	\N	\N	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	74673	\N	\N	EFO	0	EFO	Pseudoaminopterin syndrome	Pseudoaminopterin syndrome
Orphanet:102283	Orphanet:221120	\N	"" []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	216752	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Pseudoaminopterin syndrome
Orphanet:139393	Orphanet:221120	\N	"" []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	216753	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Pseudoaminopterin syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	571288	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Pseudoaminopterin syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	571289	\N	\N	EFO	2	EFO	Craniosynostosis	Pseudoaminopterin syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	1153452	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pseudoaminopterin syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	1153453	\N	\N	EFO	3	EFO	Genetic cranial malformation	Pseudoaminopterin syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	1153454	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Pseudoaminopterin syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	4393762	\N	\N	EFO	6	EFO	genetic disorder	Pseudoaminopterin syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	2035989	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pseudoaminopterin syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	2035990	\N	\N	EFO	4	EFO	Rare genetic bone disease	Pseudoaminopterin syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	2035991	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Pseudoaminopterin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	5059766	\N	\N	EFO	7	EFO	disease	Pseudoaminopterin syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	3186402	\N	\N	EFO	5	EFO	genetic disorder	Pseudoaminopterin syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	3186403	\N	\N	EFO	5	EFO	bone disease	Pseudoaminopterin syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	3186404	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pseudoaminopterin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	5876989	\N	\N	EFO	8	EFO	disposition	Pseudoaminopterin syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	4393761	\N	\N	EFO	6	EFO	skeletal system disease	Pseudoaminopterin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	6470193	\N	\N	EFO	9	EFO	material property	Pseudoaminopterin syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	5412133	\N	\N	EFO	7	EFO	disease	Pseudoaminopterin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:221120	"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." []	6848401	\N	\N	EFO	10	EFO	experimental factor	Pseudoaminopterin syndrome
Orphanet:221126	\N	\N	"" []	Orphanet:221126	"" []	74674	\N	\N	EFO	0	EFO	Fowler syndrome	Fowler syndrome
Orphanet:269564	Orphanet:221126	\N	"" []	Orphanet:221126	"" []	216754	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Fowler syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:221126	"" []	571290	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Fowler syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:221126	"" []	1153455	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fowler syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:221126	"" []	1153456	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Fowler syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221126	"" []	2035992	\N	\N	EFO	4	EFO	genetic disorder	Fowler syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221126	"" []	2035993	\N	\N	EFO	4	EFO	genetic disorder	Fowler syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221126	"" []	3186405	\N	\N	EFO	5	EFO	disease	Fowler syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:221126	"" []	4393763	\N	\N	EFO	6	EFO	disposition	Fowler syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:221126	"" []	5412134	\N	\N	EFO	7	EFO	material property	Fowler syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:221126	"" []	6149150	\N	\N	EFO	8	EFO	experimental factor	Fowler syndrome
Orphanet:221139	\N	\N	"" []	Orphanet:221139	"" []	74675	\N	\N	EFO	0	EFO	Combined immunodeficiency with facio-oculo-skeletal anomalies	Combined immunodeficiency with facio-oculo-skeletal anomalies
Orphanet:101972	Orphanet:221139	\N	"" []	Orphanet:221139	"" []	216755	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Combined immunodeficiency with facio-oculo-skeletal anomalies
Orphanet:330197	Orphanet:221139	\N	"" []	Orphanet:221139	"" []	216756	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Combined immunodeficiency with facio-oculo-skeletal anomalies
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:221139	"" []	571291	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined immunodeficiency with facio-oculo-skeletal anomalies
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:221139	"" []	571292	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Combined immunodeficiency with facio-oculo-skeletal anomalies
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:221139	"" []	1153457	\N	\N	EFO	3	EFO	Primary immunodeficiency	Combined immunodeficiency with facio-oculo-skeletal anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:221139	"" []	1153458	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Combined immunodeficiency with facio-oculo-skeletal anomalies
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:221139	"" []	2035994	\N	\N	EFO	4	EFO	Rare genetic immune disease	Combined immunodeficiency with facio-oculo-skeletal anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221139	"" []	2035995	\N	\N	EFO	4	EFO	genetic disorder	Combined immunodeficiency with facio-oculo-skeletal anomalies
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221139	"" []	3186406	\N	\N	EFO	5	EFO	genetic disorder	Combined immunodeficiency with facio-oculo-skeletal anomalies
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:221139	"" []	3186407	\N	\N	EFO	5	EFO	immune system disease	Combined immunodeficiency with facio-oculo-skeletal anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221139	"" []	4393764	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency with facio-oculo-skeletal anomalies
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221139	"" []	4393765	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency with facio-oculo-skeletal anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:221139	"" []	5182009	\N	\N	EFO	7	EFO	disposition	Combined immunodeficiency with facio-oculo-skeletal anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:221139	"" []	5997383	\N	\N	EFO	8	EFO	material property	Combined immunodeficiency with facio-oculo-skeletal anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:221139	"" []	6550808	\N	\N	EFO	9	EFO	experimental factor	Combined immunodeficiency with facio-oculo-skeletal anomalies
Orphanet:221145	\N	\N	"" []	Orphanet:221145	"" []	74676	\N	\N	EFO	0	EFO	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:209	Orphanet:221145	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:221145	"" []	216757	\N	\N	EFO	1	EFO	Cutis laxa	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:221145	"" []	571293	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:221145	"" []	571294	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:221145	"" []	571295	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:221145	"" []	571296	\N	\N	EFO	2	EFO	Congenital entropion	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:221145	"" []	1153459	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:221145	"" []	1153460	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:221145	"" []	1153461	\N	\N	EFO	3	EFO	Genetic dermis disorder	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:221145	"" []	1153462	\N	\N	EFO	3	EFO	Eyelids malposition disorder	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221145	"" []	2035996	\N	\N	EFO	4	EFO	genetic disorder	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:221145	"" []	2035997	\N	\N	EFO	4	EFO	Rare genetic skin disease	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:221145	"" []	2035998	\N	\N	EFO	4	EFO	Rare palpebral disease	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221145	"" []	6149153	\N	\N	EFO	8	EFO	disease	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221145	"" []	3186410	\N	\N	EFO	5	EFO	genetic disorder	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:221145	"" []	3186411	\N	\N	EFO	5	EFO	skin disease	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:221145	"" []	3186412	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:221145	"" []	6409955	\N	\N	EFO	9	EFO	disposition	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221145	"" []	4393769	\N	\N	EFO	6	EFO	disease	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:221145	"" []	4393770	\N	\N	EFO	6	EFO	Rare genetic eye disease	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:221145	"" []	6807797	\N	\N	EFO	10	EFO	material property	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221145	"" []	5412137	\N	\N	EFO	7	EFO	genetic disorder	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:221145	"" []	5412138	\N	\N	EFO	7	EFO	eye disease	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:221145	"" []	7048601	\N	\N	EFO	11	EFO	experimental factor	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221145	"" []	6149154	\N	\N	EFO	8	EFO	disease	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Orphanet:221150	\N	\N	"" []	Orphanet:221150	"" []	74677	\N	\N	EFO	0	EFO	Pitt-Hopkins-like syndrome	Pitt-Hopkins-like syndrome
Orphanet:183763	Orphanet:221150	\N	"" []	Orphanet:221150	"" []	216758	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Pitt-Hopkins-like syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:221150	"" []	571297	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Pitt-Hopkins-like syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:221150	"" []	1153463	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pitt-Hopkins-like syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:221150	"" []	2035999	\N	\N	EFO	4	EFO	genetic disorder	Pitt-Hopkins-like syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:221150	"" []	3186413	\N	\N	EFO	5	EFO	disease	Pitt-Hopkins-like syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:221150	"" []	4393771	\N	\N	EFO	6	EFO	disposition	Pitt-Hopkins-like syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:221150	"" []	5412139	\N	\N	EFO	7	EFO	material property	Pitt-Hopkins-like syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:221150	"" []	6149155	\N	\N	EFO	8	EFO	experimental factor	Pitt-Hopkins-like syndrome
Orphanet:2213	\N	\N	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	74678	\N	\N	EFO	0	EFO	Hypertelorism-microtia-facial clefting syndrome	Hypertelorism-microtia-facial clefting syndrome
Orphanet:102283	Orphanet:2213	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	216759	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Hypertelorism-microtia-facial clefting syndrome
Orphanet:139039	Orphanet:2213	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	216760	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Hypertelorism-microtia-facial clefting syndrome
Orphanet:183576	Orphanet:2213	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	216761	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Hypertelorism-microtia-facial clefting syndrome
Orphanet:183763	Orphanet:2213	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	216762	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hypertelorism-microtia-facial clefting syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	571298	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hypertelorism-microtia-facial clefting syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	571299	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Hypertelorism-microtia-facial clefting syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	571300	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hypertelorism-microtia-facial clefting syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	571301	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hypertelorism-microtia-facial clefting syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	1153464	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypertelorism-microtia-facial clefting syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	1153465	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Hypertelorism-microtia-facial clefting syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	4393772	\N	\N	EFO	6	EFO	genetic disorder	Hypertelorism-microtia-facial clefting syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	1153467	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hypertelorism-microtia-facial clefting syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	2036001	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Hypertelorism-microtia-facial clefting syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	5028414	\N	\N	EFO	7	EFO	disease	Hypertelorism-microtia-facial clefting syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	2036003	\N	\N	EFO	4	EFO	genetic disorder	Hypertelorism-microtia-facial clefting syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	3186414	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hypertelorism-microtia-facial clefting syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	5817566	\N	\N	EFO	8	EFO	disposition	Hypertelorism-microtia-facial clefting syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	6409956	\N	\N	EFO	9	EFO	material property	Hypertelorism-microtia-facial clefting syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2213	"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." []	6807798	\N	\N	EFO	10	EFO	experimental factor	Hypertelorism-microtia-facial clefting syndrome
Orphanet:2215	\N	\N	"" []	Orphanet:2215	"" []	74679	\N	\N	EFO	0	EFO	Malignant hyperthermia - arthrogryposis - torticollis	Malignant hyperthermia - arthrogryposis - torticollis
Orphanet:1037	Orphanet:2215	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:2215	"" []	216763	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Malignant hyperthermia - arthrogryposis - torticollis
Orphanet:156237	Orphanet:2215	\N	"" []	Orphanet:2215	"" []	216764	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Malignant hyperthermia - arthrogryposis - torticollis
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:2215	"" []	571302	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Malignant hyperthermia - arthrogryposis - torticollis
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2215	"" []	571303	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Malignant hyperthermia - arthrogryposis - torticollis
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:2215	"" []	1153468	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Malignant hyperthermia - arthrogryposis - torticollis
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2215	"" []	1153469	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Malignant hyperthermia - arthrogryposis - torticollis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2215	"" []	2036004	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Malignant hyperthermia - arthrogryposis - torticollis
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2215	"" []	2036005	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Malignant hyperthermia - arthrogryposis - torticollis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2215	"" []	3186416	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Malignant hyperthermia - arthrogryposis - torticollis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2215	"" []	4393774	\N	\N	EFO	6	EFO	genetic disorder	Malignant hyperthermia - arthrogryposis - torticollis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2215	"" []	5182012	\N	\N	EFO	7	EFO	disease	Malignant hyperthermia - arthrogryposis - torticollis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2215	"" []	5997386	\N	\N	EFO	8	EFO	disposition	Malignant hyperthermia - arthrogryposis - torticollis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2215	"" []	6550810	\N	\N	EFO	9	EFO	material property	Malignant hyperthermia - arthrogryposis - torticollis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2215	"" []	6889126	\N	\N	EFO	10	EFO	experimental factor	Malignant hyperthermia - arthrogryposis - torticollis
Orphanet:2218	\N	\N	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	74680	\N	\N	EFO	0	EFO	Cervical hypertrichosis - peripheral neuropathy	Cervical hypertrichosis - peripheral neuropathy
Orphanet:269570	Orphanet:2218	\N	"" []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	216765	\N	\N	EFO	1	EFO	Genetic syndrome with a Dandy-Walker malformation as major feature	Cervical hypertrichosis - peripheral neuropathy
Orphanet:79365	Orphanet:2218	\N	"" []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	216766	\N	\N	EFO	1	EFO	Hypertrichosis	Cervical hypertrichosis - peripheral neuropathy
Orphanet:269567	Orphanet:269570	\N	"" []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	571304	\N	\N	EFO	2	EFO	Genetic syndrome with a cerebellar malformation as major feature	Cervical hypertrichosis - peripheral neuropathy
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	571305	\N	\N	EFO	2	EFO	Genetic hair anomaly	Cervical hypertrichosis - peripheral neuropathy
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	1153470	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Cervical hypertrichosis - peripheral neuropathy
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	1153471	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Cervical hypertrichosis - peripheral neuropathy
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	2036006	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Cervical hypertrichosis - peripheral neuropathy
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	2036007	\N	\N	EFO	4	EFO	Rare genetic skin disease	Cervical hypertrichosis - peripheral neuropathy
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	3186418	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cervical hypertrichosis - peripheral neuropathy
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	3186419	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Cervical hypertrichosis - peripheral neuropathy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	3186420	\N	\N	EFO	5	EFO	genetic disorder	Cervical hypertrichosis - peripheral neuropathy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	3186421	\N	\N	EFO	5	EFO	skin disease	Cervical hypertrichosis - peripheral neuropathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	4393776	\N	\N	EFO	6	EFO	genetic disorder	Cervical hypertrichosis - peripheral neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	4393777	\N	\N	EFO	6	EFO	genetic disorder	Cervical hypertrichosis - peripheral neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	5412142	\N	\N	EFO	7	EFO	disease	Cervical hypertrichosis - peripheral neuropathy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	4393779	\N	\N	EFO	6	EFO	disease	Cervical hypertrichosis - peripheral neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	5997387	\N	\N	EFO	8	EFO	disposition	Cervical hypertrichosis - peripheral neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	6550811	\N	\N	EFO	9	EFO	material property	Cervical hypertrichosis - peripheral neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2218	"Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." []	6889127	\N	\N	EFO	10	EFO	experimental factor	Cervical hypertrichosis - peripheral neuropathy
Orphanet:2220	\N	\N	"" []	Orphanet:2220	"" []	74681	\N	\N	EFO	0	EFO	Hypertrichosis cubiti - short stature	Hypertrichosis cubiti - short stature
Orphanet:79365	Orphanet:2220	\N	"" []	Orphanet:2220	"" []	216767	\N	\N	EFO	1	EFO	Hypertrichosis	Hypertrichosis cubiti - short stature
Orphanet:79373	Orphanet:2220	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2220	"" []	216768	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Hypertrichosis cubiti - short stature
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:2220	"" []	571306	\N	\N	EFO	2	EFO	Genetic hair anomaly	Hypertrichosis cubiti - short stature
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2220	"" []	571307	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Hypertrichosis cubiti - short stature
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2220	"" []	571308	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Hypertrichosis cubiti - short stature
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:2220	"" []	1153472	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Hypertrichosis cubiti - short stature
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2220	"" []	1153473	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypertrichosis cubiti - short stature
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2220	"" []	2036008	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hypertrichosis cubiti - short stature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2220	"" []	2036009	\N	\N	EFO	4	EFO	genetic disorder	Hypertrichosis cubiti - short stature
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2220	"" []	3000212	\N	\N	EFO	5	EFO	genetic disorder	Hypertrichosis cubiti - short stature
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2220	"" []	3000213	\N	\N	EFO	5	EFO	skin disease	Hypertrichosis cubiti - short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2220	"" []	4133548	\N	\N	EFO	6	EFO	disease	Hypertrichosis cubiti - short stature
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2220	"" []	4133549	\N	\N	EFO	6	EFO	disease	Hypertrichosis cubiti - short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2220	"" []	5182013	\N	\N	EFO	7	EFO	disposition	Hypertrichosis cubiti - short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2220	"" []	5997388	\N	\N	EFO	8	EFO	material property	Hypertrichosis cubiti - short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2220	"" []	6550812	\N	\N	EFO	9	EFO	experimental factor	Hypertrichosis cubiti - short stature
Orphanet:2222	\N	\N	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	74682	\N	\N	EFO	0	EFO	Hypertrichosis lanuginosa congenita	Hypertrichosis lanuginosa congenita
Orphanet:79365	Orphanet:2222	\N	"" []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	216769	\N	\N	EFO	1	EFO	Hypertrichosis	Hypertrichosis lanuginosa congenita
Orphanet:79373	Orphanet:2222	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	216770	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Hypertrichosis lanuginosa congenita
Orphanet:98595	Orphanet:2222	\N	"" []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	216771	\N	\N	EFO	1	EFO	Eyebrow/eyelashes hypertrichosis	Hypertrichosis lanuginosa congenita
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	571309	\N	\N	EFO	2	EFO	Genetic hair anomaly	Hypertrichosis lanuginosa congenita
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	571310	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Hypertrichosis lanuginosa congenita
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	571311	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Hypertrichosis lanuginosa congenita
Orphanet:98594	Orphanet:98595	\N	"" []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	571312	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Hypertrichosis lanuginosa congenita
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	1153475	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Hypertrichosis lanuginosa congenita
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	1153476	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypertrichosis lanuginosa congenita
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	2036012	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hypertrichosis lanuginosa congenita
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	1153478	\N	\N	EFO	3	EFO	Rare palpebral disease	Hypertrichosis lanuginosa congenita
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	2036013	\N	\N	EFO	4	EFO	genetic disorder	Hypertrichosis lanuginosa congenita
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	3000214	\N	\N	EFO	5	EFO	genetic disorder	Hypertrichosis lanuginosa congenita
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	3000215	\N	\N	EFO	5	EFO	skin disease	Hypertrichosis lanuginosa congenita
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	2036016	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Hypertrichosis lanuginosa congenita
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	5412146	\N	\N	EFO	7	EFO	disease	Hypertrichosis lanuginosa congenita
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	4133551	\N	\N	EFO	6	EFO	disease	Hypertrichosis lanuginosa congenita
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	3186426	\N	\N	EFO	5	EFO	Rare genetic eye disease	Hypertrichosis lanuginosa congenita
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	5876990	\N	\N	EFO	8	EFO	disposition	Hypertrichosis lanuginosa congenita
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	4393782	\N	\N	EFO	6	EFO	genetic disorder	Hypertrichosis lanuginosa congenita
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	4393783	\N	\N	EFO	6	EFO	eye disease	Hypertrichosis lanuginosa congenita
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	6470194	\N	\N	EFO	9	EFO	material property	Hypertrichosis lanuginosa congenita
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	5412147	\N	\N	EFO	7	EFO	disease	Hypertrichosis lanuginosa congenita
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2222	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	6848402	\N	\N	EFO	10	EFO	experimental factor	Hypertrichosis lanuginosa congenita
Orphanet:2224	\N	\N	"" []	Orphanet:2224	"" []	74683	\N	\N	EFO	0	EFO	Hypertryptophanemia	Hypertryptophanemia
Orphanet:289829	Orphanet:2224	\N	"" []	Orphanet:2224	"" []	216772	\N	\N	EFO	1	EFO	Disorder of tryptophan metabolism	Hypertryptophanemia
Orphanet:79062	Orphanet:289829	\N	"" []	Orphanet:2224	"" []	571313	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Hypertryptophanemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2224	"" []	1153479	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hypertryptophanemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2224	"" []	2036017	\N	\N	EFO	4	EFO	genetic disorder	Hypertryptophanemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2224	"" []	2036018	\N	\N	EFO	4	EFO	metabolic disease	Hypertryptophanemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2224	"" []	3186427	\N	\N	EFO	5	EFO	disease	Hypertryptophanemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2224	"" []	3186428	\N	\N	EFO	5	EFO	disease	Hypertryptophanemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2224	"" []	4393784	\N	\N	EFO	6	EFO	disposition	Hypertryptophanemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2224	"" []	5412148	\N	\N	EFO	7	EFO	material property	Hypertryptophanemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2224	"" []	6149160	\N	\N	EFO	8	EFO	experimental factor	Hypertryptophanemia
Orphanet:222628	\N	\N	"" []	Orphanet:222628	"" []	74684	\N	\N	EFO	0	EFO	Hereditary poikiloderma	Hereditary poikiloderma
Orphanet:183426	Orphanet:222628	\N	"" []	Orphanet:222628	"" []	216773	\N	\N	EFO	1	EFO	Genetic epidermal disorder	Hereditary poikiloderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:222628	"" []	571314	\N	\N	EFO	2	EFO	Rare genetic skin disease	Hereditary poikiloderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:222628	"" []	1153480	\N	\N	EFO	3	EFO	genetic disorder	Hereditary poikiloderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:222628	"" []	1153481	\N	\N	EFO	3	EFO	skin disease	Hereditary poikiloderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:222628	"" []	2036019	\N	\N	EFO	4	EFO	disease	Hereditary poikiloderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:222628	"" []	2036020	\N	\N	EFO	4	EFO	disease	Hereditary poikiloderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:222628	"" []	3186429	\N	\N	EFO	5	EFO	disposition	Hereditary poikiloderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:222628	"" []	4393785	\N	\N	EFO	6	EFO	material property	Hereditary poikiloderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:222628	"" []	5412149	\N	\N	EFO	7	EFO	experimental factor	Hereditary poikiloderma
Orphanet:2228	\N	\N	"" []	Orphanet:2228	"" []	74685	\N	\N	EFO	0	EFO	Hypodontia - dysplasia of nails	Hypodontia - dysplasia of nails
Orphanet:183580	Orphanet:2228	\N	"" []	Orphanet:2228	"" []	216774	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Hypodontia - dysplasia of nails
Orphanet:79373	Orphanet:2228	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2228	"" []	216775	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Hypodontia - dysplasia of nails
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2228	"" []	571315	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hypodontia - dysplasia of nails
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2228	"" []	571316	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Hypodontia - dysplasia of nails
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2228	"" []	571317	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Hypodontia - dysplasia of nails
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2228	"" []	2036022	\N	\N	EFO	4	EFO	genetic disorder	Hypodontia - dysplasia of nails
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2228	"" []	1153483	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypodontia - dysplasia of nails
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2228	"" []	1153484	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hypodontia - dysplasia of nails
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2228	"" []	3000216	\N	\N	EFO	5	EFO	disease	Hypodontia - dysplasia of nails
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2228	"" []	2036023	\N	\N	EFO	4	EFO	genetic disorder	Hypodontia - dysplasia of nails
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2228	"" []	2036024	\N	\N	EFO	4	EFO	skin disease	Hypodontia - dysplasia of nails
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2228	"" []	4133552	\N	\N	EFO	6	EFO	disposition	Hypodontia - dysplasia of nails
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2228	"" []	3186431	\N	\N	EFO	5	EFO	disease	Hypodontia - dysplasia of nails
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2228	"" []	5182015	\N	\N	EFO	7	EFO	material property	Hypodontia - dysplasia of nails
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2228	"" []	5997390	\N	\N	EFO	8	EFO	experimental factor	Hypodontia - dysplasia of nails
Orphanet:2229	\N	\N	"" []	Orphanet:2229	"" []	74686	\N	\N	EFO	0	EFO	Dilated cardiomyopathy - hypergonadotropic hypogonadism	Dilated cardiomyopathy - hypergonadotropic hypogonadism
Orphanet:181441	Orphanet:2229	\N	"" []	Orphanet:2229	"" []	216776	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Dilated cardiomyopathy - hypergonadotropic hypogonadism
Orphanet:217619	Orphanet:2229	\N	"" []	Orphanet:2229	"" []	216777	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	Dilated cardiomyopathy - hypergonadotropic hypogonadism
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:2229	"" []	571318	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Dilated cardiomyopathy - hypergonadotropic hypogonadism
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:2229	"" []	571319	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Dilated cardiomyopathy - hypergonadotropic hypogonadism
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:2229	"" []	571320	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2229	"" []	1153485	\N	\N	EFO	3	EFO	genetic disorder	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2229	"" []	1153486	\N	\N	EFO	3	EFO	endocrine system disease	Dilated cardiomyopathy - hypergonadotropic hypogonadism
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:2229	"" []	1153487	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:2229	"" []	1153488	\N	\N	EFO	3	EFO	cardiomyopathy	Dilated cardiomyopathy - hypergonadotropic hypogonadism
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:2229	"" []	1153489	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2229	"" []	5412152	\N	\N	EFO	7	EFO	disease	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2229	"" []	2036026	\N	\N	EFO	4	EFO	disease	Dilated cardiomyopathy - hypergonadotropic hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2229	"" []	2036027	\N	\N	EFO	4	EFO	Rare genetic male infertility	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2229	"" []	2036028	\N	\N	EFO	4	EFO	heart disease	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2229	"" []	2036029	\N	\N	EFO	4	EFO	genetic disorder	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2229	"" []	2036030	\N	\N	EFO	4	EFO	heart disease	Dilated cardiomyopathy - hypergonadotropic hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2229	"" []	5817567	\N	\N	EFO	8	EFO	disposition	Dilated cardiomyopathy - hypergonadotropic hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2229	"" []	3186433	\N	\N	EFO	5	EFO	Genetic infertility	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:2229	"" []	3186434	\N	\N	EFO	5	EFO	cardiovascular disease	Dilated cardiomyopathy - hypergonadotropic hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2229	"" []	6409957	\N	\N	EFO	9	EFO	material property	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2229	"" []	4393788	\N	\N	EFO	6	EFO	genetic disorder	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2229	"" []	4393789	\N	\N	EFO	6	EFO	reproductive system disease	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2229	"" []	4393790	\N	\N	EFO	6	EFO	disease	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2229	"" []	6807799	\N	\N	EFO	10	EFO	experimental factor	Dilated cardiomyopathy - hypergonadotropic hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2229	"" []	5412153	\N	\N	EFO	7	EFO	disease	Dilated cardiomyopathy - hypergonadotropic hypogonadism
Orphanet:223	\N	\N	"" []	Orphanet:223	"" []	74687	\N	\N	EFO	0	EFO	Nephrogenic diabetes insipidus	Nephrogenic diabetes insipidus
Orphanet:183592	Orphanet:223	\N	"" []	Orphanet:223	"" []	216778	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Nephrogenic diabetes insipidus
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:223	"" []	571321	\N	\N	EFO	2	EFO	Rare genetic renal disease	Nephrogenic diabetes insipidus
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:223	"" []	1153490	\N	\N	EFO	3	EFO	genetic disorder	Nephrogenic diabetes insipidus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:223	"" []	2036031	\N	\N	EFO	4	EFO	disease	Nephrogenic diabetes insipidus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:223	"" []	3186436	\N	\N	EFO	5	EFO	disposition	Nephrogenic diabetes insipidus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:223	"" []	4393791	\N	\N	EFO	6	EFO	material property	Nephrogenic diabetes insipidus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:223	"" []	5412155	\N	\N	EFO	7	EFO	experimental factor	Nephrogenic diabetes insipidus
Orphanet:2230	\N	\N	"" []	Orphanet:2230	"" []	74688	\N	\N	EFO	0	EFO	Hypogonadotropic hypogonadism - frontoparietal alopecia	Hypogonadotropic hypogonadism - frontoparietal alopecia
Orphanet:181387	Orphanet:2230	\N	"" []	Orphanet:2230	"" []	216779	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism - frontoparietal alopecia
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:2230	"" []	571322	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism - frontoparietal alopecia
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:2230	"" []	1153491	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Hypogonadotropic hypogonadism - frontoparietal alopecia
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:2230	"" []	1153492	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Hypogonadotropic hypogonadism - frontoparietal alopecia
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:2230	"" []	1153493	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Hypogonadotropic hypogonadism - frontoparietal alopecia
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:2230	"" []	2036032	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Hypogonadotropic hypogonadism - frontoparietal alopecia
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2230	"" []	2036033	\N	\N	EFO	4	EFO	Rare genetic male infertility	Hypogonadotropic hypogonadism - frontoparietal alopecia
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:2230	"" []	2036034	\N	\N	EFO	4	EFO	Pituitary deficiency	Hypogonadotropic hypogonadism - frontoparietal alopecia
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2230	"" []	3186437	\N	\N	EFO	5	EFO	genetic disorder	Hypogonadotropic hypogonadism - frontoparietal alopecia
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:2230	"" []	3186438	\N	\N	EFO	5	EFO	reproductive system disease	Hypogonadotropic hypogonadism - frontoparietal alopecia
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2230	"" []	3186439	\N	\N	EFO	5	EFO	Genetic infertility	Hypogonadotropic hypogonadism - frontoparietal alopecia
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:2230	"" []	3186440	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Hypogonadotropic hypogonadism - frontoparietal alopecia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2230	"" []	6149162	\N	\N	EFO	8	EFO	disease	Hypogonadotropic hypogonadism - frontoparietal alopecia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2230	"" []	5412158	\N	\N	EFO	7	EFO	disease	Hypogonadotropic hypogonadism - frontoparietal alopecia
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2230	"" []	4393794	\N	\N	EFO	6	EFO	genetic disorder	Hypogonadotropic hypogonadism - frontoparietal alopecia
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2230	"" []	4393795	\N	\N	EFO	6	EFO	reproductive system disease	Hypogonadotropic hypogonadism - frontoparietal alopecia
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:2230	"" []	4393796	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Hypogonadotropic hypogonadism - frontoparietal alopecia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2230	"" []	6470196	\N	\N	EFO	9	EFO	disposition	Hypogonadotropic hypogonadism - frontoparietal alopecia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2230	"" []	5412159	\N	\N	EFO	7	EFO	genetic disorder	Hypogonadotropic hypogonadism - frontoparietal alopecia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2230	"" []	5412160	\N	\N	EFO	7	EFO	endocrine system disease	Hypogonadotropic hypogonadism - frontoparietal alopecia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2230	"" []	6848403	\N	\N	EFO	10	EFO	material property	Hypogonadotropic hypogonadism - frontoparietal alopecia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2230	"" []	6149163	\N	\N	EFO	8	EFO	disease	Hypogonadotropic hypogonadism - frontoparietal alopecia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2230	"" []	7068418	\N	\N	EFO	11	EFO	experimental factor	Hypogonadotropic hypogonadism - frontoparietal alopecia
Orphanet:2232	\N	\N	"" []	Orphanet:2232	"" []	74689	\N	\N	EFO	0	EFO	Primary hypergonadotropic hypogonadism - partial alopecia	Primary hypergonadotropic hypogonadism - partial alopecia
Orphanet:181441	Orphanet:2232	\N	"" []	Orphanet:2232	"" []	216780	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Primary hypergonadotropic hypogonadism - partial alopecia
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:2232	"" []	571323	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Primary hypergonadotropic hypogonadism - partial alopecia
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:2232	"" []	571324	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Primary hypergonadotropic hypogonadism - partial alopecia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2232	"" []	1153494	\N	\N	EFO	3	EFO	genetic disorder	Primary hypergonadotropic hypogonadism - partial alopecia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2232	"" []	1153495	\N	\N	EFO	3	EFO	endocrine system disease	Primary hypergonadotropic hypogonadism - partial alopecia
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:2232	"" []	1153496	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Primary hypergonadotropic hypogonadism - partial alopecia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2232	"" []	5412162	\N	\N	EFO	7	EFO	disease	Primary hypergonadotropic hypogonadism - partial alopecia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2232	"" []	2036036	\N	\N	EFO	4	EFO	disease	Primary hypergonadotropic hypogonadism - partial alopecia
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2232	"" []	2036037	\N	\N	EFO	4	EFO	Rare genetic male infertility	Primary hypergonadotropic hypogonadism - partial alopecia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2232	"" []	5817568	\N	\N	EFO	8	EFO	disposition	Primary hypergonadotropic hypogonadism - partial alopecia
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2232	"" []	3186442	\N	\N	EFO	5	EFO	Genetic infertility	Primary hypergonadotropic hypogonadism - partial alopecia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2232	"" []	6409958	\N	\N	EFO	9	EFO	material property	Primary hypergonadotropic hypogonadism - partial alopecia
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2232	"" []	4393798	\N	\N	EFO	6	EFO	genetic disorder	Primary hypergonadotropic hypogonadism - partial alopecia
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2232	"" []	4393799	\N	\N	EFO	6	EFO	reproductive system disease	Primary hypergonadotropic hypogonadism - partial alopecia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2232	"" []	6807800	\N	\N	EFO	10	EFO	experimental factor	Primary hypergonadotropic hypogonadism - partial alopecia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2232	"" []	5412163	\N	\N	EFO	7	EFO	disease	Primary hypergonadotropic hypogonadism - partial alopecia
Orphanet:2233	\N	\N	"" []	Orphanet:2233	"" []	74690	\N	\N	EFO	0	EFO	Hypogonadism - mitral valve prolapse - intellectual disability	Hypogonadism - mitral valve prolapse - intellectual disability
Orphanet:181441	Orphanet:2233	\N	"" []	Orphanet:2233	"" []	216781	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Hypogonadism - mitral valve prolapse - intellectual disability
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:2233	"" []	571325	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Hypogonadism - mitral valve prolapse - intellectual disability
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:2233	"" []	571326	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Hypogonadism - mitral valve prolapse - intellectual disability
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2233	"" []	1153497	\N	\N	EFO	3	EFO	genetic disorder	Hypogonadism - mitral valve prolapse - intellectual disability
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2233	"" []	1153498	\N	\N	EFO	3	EFO	endocrine system disease	Hypogonadism - mitral valve prolapse - intellectual disability
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:2233	"" []	1153499	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Hypogonadism - mitral valve prolapse - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2233	"" []	5412165	\N	\N	EFO	7	EFO	disease	Hypogonadism - mitral valve prolapse - intellectual disability
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2233	"" []	2036039	\N	\N	EFO	4	EFO	disease	Hypogonadism - mitral valve prolapse - intellectual disability
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2233	"" []	2036040	\N	\N	EFO	4	EFO	Rare genetic male infertility	Hypogonadism - mitral valve prolapse - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2233	"" []	5817569	\N	\N	EFO	8	EFO	disposition	Hypogonadism - mitral valve prolapse - intellectual disability
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2233	"" []	3186444	\N	\N	EFO	5	EFO	Genetic infertility	Hypogonadism - mitral valve prolapse - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2233	"" []	6409959	\N	\N	EFO	9	EFO	material property	Hypogonadism - mitral valve prolapse - intellectual disability
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2233	"" []	4393801	\N	\N	EFO	6	EFO	genetic disorder	Hypogonadism - mitral valve prolapse - intellectual disability
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2233	"" []	4393802	\N	\N	EFO	6	EFO	reproductive system disease	Hypogonadism - mitral valve prolapse - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2233	"" []	6807801	\N	\N	EFO	10	EFO	experimental factor	Hypogonadism - mitral valve prolapse - intellectual disability
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2233	"" []	5412166	\N	\N	EFO	7	EFO	disease	Hypogonadism - mitral valve prolapse - intellectual disability
Orphanet:2234	\N	\N	"" []	Orphanet:2234	"" []	74691	\N	\N	EFO	0	EFO	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:102283	Orphanet:2234	\N	"" []	Orphanet:2234	"" []	216782	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:181441	Orphanet:2234	\N	"" []	Orphanet:2234	"" []	216783	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:183763	Orphanet:2234	\N	"" []	Orphanet:2234	"" []	216784	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2234	"" []	571327	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:2234	"" []	571328	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:2234	"" []	571329	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2234	"" []	571330	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2234	"" []	1153500	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2234	"" []	1153501	\N	\N	EFO	3	EFO	genetic disorder	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2234	"" []	1153502	\N	\N	EFO	3	EFO	endocrine system disease	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:2234	"" []	1153503	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2234	"" []	1153504	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2234	"" []	2036041	\N	\N	EFO	4	EFO	genetic disorder	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2234	"" []	5412168	\N	\N	EFO	7	EFO	disease	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2234	"" []	2036043	\N	\N	EFO	4	EFO	disease	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2234	"" []	2036044	\N	\N	EFO	4	EFO	Rare genetic male infertility	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2234	"" []	2036045	\N	\N	EFO	4	EFO	genetic disorder	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2234	"" []	5817570	\N	\N	EFO	8	EFO	disposition	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2234	"" []	3186447	\N	\N	EFO	5	EFO	Genetic infertility	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2234	"" []	6409960	\N	\N	EFO	9	EFO	material property	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2234	"" []	4393804	\N	\N	EFO	6	EFO	genetic disorder	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2234	"" []	4393805	\N	\N	EFO	6	EFO	reproductive system disease	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2234	"" []	6807802	\N	\N	EFO	10	EFO	experimental factor	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2234	"" []	5412169	\N	\N	EFO	7	EFO	disease	Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Orphanet:2235	\N	\N	"" []	Orphanet:2235	"" []	74692	\N	\N	EFO	0	EFO	Hypogonadotropic hypogonadism - retinitis pigmentosa	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:181387	Orphanet:2235	\N	"" []	Orphanet:2235	"" []	216785	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:98661	Orphanet:2235	\N	"" []	Orphanet:2235	"" []	216786	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:2235	"" []	571331	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:2235	"" []	571332	\N	\N	EFO	2	EFO	Retinal dystrophy	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:2235	"" []	1153505	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:2235	"" []	1153506	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:2235	"" []	1153507	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:2235	"" []	1153508	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:2235	"" []	2036046	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2235	"" []	2036047	\N	\N	EFO	4	EFO	Rare genetic male infertility	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:2235	"" []	2036048	\N	\N	EFO	4	EFO	Pituitary deficiency	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:2235	"" []	2036049	\N	\N	EFO	4	EFO	Rare genetic eye disease	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2235	"" []	3186448	\N	\N	EFO	5	EFO	genetic disorder	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:2235	"" []	3186449	\N	\N	EFO	5	EFO	reproductive system disease	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2235	"" []	3186450	\N	\N	EFO	5	EFO	Genetic infertility	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:2235	"" []	3186451	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2235	"" []	3186452	\N	\N	EFO	5	EFO	genetic disorder	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2235	"" []	3186453	\N	\N	EFO	5	EFO	eye disease	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2235	"" []	6149165	\N	\N	EFO	8	EFO	disease	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2235	"" []	5412172	\N	\N	EFO	7	EFO	disease	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2235	"" []	4393808	\N	\N	EFO	6	EFO	genetic disorder	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2235	"" []	4393809	\N	\N	EFO	6	EFO	reproductive system disease	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:2235	"" []	4393810	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2235	"" []	4393811	\N	\N	EFO	6	EFO	disease	Hypogonadotropic hypogonadism - retinitis pigmentosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2235	"" []	6470197	\N	\N	EFO	9	EFO	disposition	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2235	"" []	5412173	\N	\N	EFO	7	EFO	genetic disorder	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2235	"" []	5412174	\N	\N	EFO	7	EFO	endocrine system disease	Hypogonadotropic hypogonadism - retinitis pigmentosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2235	"" []	6848404	\N	\N	EFO	10	EFO	material property	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2235	"" []	6149166	\N	\N	EFO	8	EFO	disease	Hypogonadotropic hypogonadism - retinitis pigmentosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2235	"" []	7068419	\N	\N	EFO	11	EFO	experimental factor	Hypogonadotropic hypogonadism - retinitis pigmentosa
Orphanet:2237	\N	\N	"" []	Orphanet:2237	"" []	74693	\N	\N	EFO	0	EFO	Hypoparathyroidism - deafness - renal disease	Hypoparathyroidism - deafness - renal disease
Orphanet:181402	Orphanet:2237	\N	"" []	Orphanet:2237	"" []	216787	\N	\N	EFO	1	EFO	Syndrome with hypoparathyroidism	Hypoparathyroidism - deafness - renal disease
Orphanet:261938	Orphanet:2237	\N	"" []	Orphanet:2237	"" []	216788	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 10	Hypoparathyroidism - deafness - renal disease
Orphanet:90642	Orphanet:2237	\N	"" []	Orphanet:2237	"" []	216789	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Hypoparathyroidism - deafness - renal disease
Orphanet:93547	Orphanet:2237	\N	"" []	Orphanet:2237	"" []	216790	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Hypoparathyroidism - deafness - renal disease
Orphanet:208593	Orphanet:181402	\N	"" []	Orphanet:2237	"" []	571333	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Hypoparathyroidism - deafness - renal disease
Orphanet:261811	Orphanet:261938	\N	"" []	Orphanet:2237	"" []	571334	\N	\N	EFO	2	EFO	Partial deletion of chromosome 10	Hypoparathyroidism - deafness - renal disease
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2237	"" []	571335	\N	\N	EFO	2	EFO	Rare genetic deafness	Hypoparathyroidism - deafness - renal disease
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2237	"" []	571336	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Hypoparathyroidism - deafness - renal disease
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:2237	"" []	1153509	\N	\N	EFO	3	EFO	parathyroid disease	Hypoparathyroidism - deafness - renal disease
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:2237	"" []	1153510	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Hypoparathyroidism - deafness - renal disease
Orphanet:98142	Orphanet:261811	\N	"" []	Orphanet:2237	"" []	1153511	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Hypoparathyroidism - deafness - renal disease
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2237	"" []	1153512	\N	\N	EFO	3	EFO	genetic disorder	Hypoparathyroidism - deafness - renal disease
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2237	"" []	1153513	\N	\N	EFO	3	EFO	auditory system disease	Hypoparathyroidism - deafness - renal disease
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2237	"" []	1153514	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypoparathyroidism - deafness - renal disease
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2237	"" []	1153515	\N	\N	EFO	3	EFO	Rare genetic renal disease	Hypoparathyroidism - deafness - renal disease
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:2237	"" []	2036050	\N	\N	EFO	4	EFO	calcium metabolic disease	Hypoparathyroidism - deafness - renal disease
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:2237	"" []	2036051	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hypoparathyroidism - deafness - renal disease
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:2237	"" []	2036052	\N	\N	EFO	4	EFO	Autosomal monosomy	Hypoparathyroidism - deafness - renal disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2237	"" []	6149167	\N	\N	EFO	8	EFO	disease	Hypoparathyroidism - deafness - renal disease
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2237	"" []	2036054	\N	\N	EFO	4	EFO	sensory system disease	Hypoparathyroidism - deafness - renal disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2237	"" []	2036055	\N	\N	EFO	4	EFO	genetic disorder	Hypoparathyroidism - deafness - renal disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2237	"" []	2036056	\N	\N	EFO	4	EFO	genetic disorder	Hypoparathyroidism - deafness - renal disease
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2237	"" []	3186454	\N	\N	EFO	5	EFO	metabolic disease	Hypoparathyroidism - deafness - renal disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2237	"" []	3186455	\N	\N	EFO	5	EFO	genetic disorder	Hypoparathyroidism - deafness - renal disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2237	"" []	3186456	\N	\N	EFO	5	EFO	endocrine system disease	Hypoparathyroidism - deafness - renal disease
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:2237	"" []	3186457	\N	\N	EFO	5	EFO	Autosomal anomaly	Hypoparathyroidism - deafness - renal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2237	"" []	6378853	\N	\N	EFO	9	EFO	disposition	Hypoparathyroidism - deafness - renal disease
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2237	"" []	3186459	\N	\N	EFO	5	EFO	nervous system disease	Hypoparathyroidism - deafness - renal disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2237	"" []	4393812	\N	\N	EFO	6	EFO	disease	Hypoparathyroidism - deafness - renal disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2237	"" []	4393814	\N	\N	EFO	6	EFO	disease	Hypoparathyroidism - deafness - renal disease
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:2237	"" []	4393815	\N	\N	EFO	6	EFO	Chromosomal anomaly	Hypoparathyroidism - deafness - renal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2237	"" []	6778648	\N	\N	EFO	10	EFO	material property	Hypoparathyroidism - deafness - renal disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2237	"" []	4393817	\N	\N	EFO	6	EFO	disease	Hypoparathyroidism - deafness - renal disease
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2237	"" []	5412175	\N	\N	EFO	7	EFO	genetic disorder	Hypoparathyroidism - deafness - renal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2237	"" []	7029859	\N	\N	EFO	11	EFO	experimental factor	Hypoparathyroidism - deafness - renal disease
Orphanet:223713	\N	\N	"" []	Orphanet:223713	"" []	74694	\N	\N	EFO	0	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial oxidative phosphorylation disorder
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:223713	"" []	216791	\N	\N	EFO	1	EFO	Mitochondrial disease	Mitochondrial oxidative phosphorylation disorder
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:223713	"" []	571337	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Mitochondrial oxidative phosphorylation disorder
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:223713	"" []	571338	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Mitochondrial oxidative phosphorylation disorder
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:223713	"" []	1153516	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial oxidative phosphorylation disorder
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:223713	"" []	1153517	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Mitochondrial oxidative phosphorylation disorder
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:223713	"" []	2036057	\N	\N	EFO	4	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:223713	"" []	2036058	\N	\N	EFO	4	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:223713	"" []	2036059	\N	\N	EFO	4	EFO	metabolic disease	Mitochondrial oxidative phosphorylation disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:223713	"" []	3186461	\N	\N	EFO	5	EFO	disease	Mitochondrial oxidative phosphorylation disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:223713	"" []	3186462	\N	\N	EFO	5	EFO	disease	Mitochondrial oxidative phosphorylation disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:223713	"" []	4393818	\N	\N	EFO	6	EFO	disposition	Mitochondrial oxidative phosphorylation disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:223713	"" []	5412177	\N	\N	EFO	7	EFO	material property	Mitochondrial oxidative phosphorylation disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:223713	"" []	6149168	\N	\N	EFO	8	EFO	experimental factor	Mitochondrial oxidative phosphorylation disorder
Orphanet:2238	\N	\N	"" []	Orphanet:2238	"" []	74695	\N	\N	EFO	0	EFO	Familial isolated hypoparathyroidism	Familial isolated hypoparathyroidism
Orphanet:208593	Orphanet:2238	\N	"" []	Orphanet:2238	"" []	216792	\N	\N	EFO	1	EFO	Genetic hypoparathyroidism	Familial isolated hypoparathyroidism
Orphanet:98712	Orphanet:2238	\N	"" []	Orphanet:2238	"" []	216793	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Familial isolated hypoparathyroidism
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:2238	"" []	571339	\N	\N	EFO	2	EFO	parathyroid disease	Familial isolated hypoparathyroidism
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:2238	"" []	571340	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Familial isolated hypoparathyroidism
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:2238	"" []	571341	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Familial isolated hypoparathyroidism
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:2238	"" []	1153518	\N	\N	EFO	3	EFO	calcium metabolic disease	Familial isolated hypoparathyroidism
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:2238	"" []	1153519	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial isolated hypoparathyroidism
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:2238	"" []	1153520	\N	\N	EFO	3	EFO	Rare genetic eye disease	Familial isolated hypoparathyroidism
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2238	"" []	2036060	\N	\N	EFO	4	EFO	metabolic disease	Familial isolated hypoparathyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2238	"" []	2036061	\N	\N	EFO	4	EFO	genetic disorder	Familial isolated hypoparathyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2238	"" []	2036062	\N	\N	EFO	4	EFO	endocrine system disease	Familial isolated hypoparathyroidism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2238	"" []	2036063	\N	\N	EFO	4	EFO	genetic disorder	Familial isolated hypoparathyroidism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2238	"" []	2036064	\N	\N	EFO	4	EFO	eye disease	Familial isolated hypoparathyroidism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2238	"" []	3186463	\N	\N	EFO	5	EFO	disease	Familial isolated hypoparathyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2238	"" []	3186464	\N	\N	EFO	5	EFO	disease	Familial isolated hypoparathyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2238	"" []	3186465	\N	\N	EFO	5	EFO	disease	Familial isolated hypoparathyroidism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2238	"" []	3186466	\N	\N	EFO	5	EFO	disease	Familial isolated hypoparathyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2238	"" []	4393819	\N	\N	EFO	6	EFO	disposition	Familial isolated hypoparathyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2238	"" []	5412178	\N	\N	EFO	7	EFO	material property	Familial isolated hypoparathyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2238	"" []	6149169	\N	\N	EFO	8	EFO	experimental factor	Familial isolated hypoparathyroidism
Orphanet:2239	\N	\N	"" []	Orphanet:2239	"" []	74696	\N	\N	EFO	0	EFO	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Orphanet:2238	Orphanet:2239	\N	"" []	Orphanet:2239	"" []	216794	\N	\N	EFO	1	EFO	Familial isolated hypoparathyroidism	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Orphanet:208593	Orphanet:2238	\N	"" []	Orphanet:2239	"" []	571342	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Orphanet:98712	Orphanet:2238	\N	"" []	Orphanet:2239	"" []	571343	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:2239	"" []	1153521	\N	\N	EFO	3	EFO	parathyroid disease	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:2239	"" []	1153522	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:2239	"" []	1153523	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:2239	"" []	2036065	\N	\N	EFO	4	EFO	calcium metabolic disease	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:2239	"" []	2036066	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:2239	"" []	2036067	\N	\N	EFO	4	EFO	Rare genetic eye disease	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2239	"" []	3186467	\N	\N	EFO	5	EFO	metabolic disease	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2239	"" []	3186468	\N	\N	EFO	5	EFO	genetic disorder	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2239	"" []	3186469	\N	\N	EFO	5	EFO	endocrine system disease	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2239	"" []	3186470	\N	\N	EFO	5	EFO	genetic disorder	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2239	"" []	3186471	\N	\N	EFO	5	EFO	eye disease	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2239	"" []	4393820	\N	\N	EFO	6	EFO	disease	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2239	"" []	4393821	\N	\N	EFO	6	EFO	disease	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2239	"" []	4393822	\N	\N	EFO	6	EFO	disease	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2239	"" []	4393823	\N	\N	EFO	6	EFO	disease	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2239	"" []	5412179	\N	\N	EFO	7	EFO	disposition	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2239	"" []	6149170	\N	\N	EFO	8	EFO	material property	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2239	"" []	6632516	\N	\N	EFO	9	EFO	experimental factor	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Orphanet:224	\N	\N	"" []	Orphanet:224	"" []	74697	\N	\N	EFO	0	EFO	Neonatal diabetes mellitus	Neonatal diabetes mellitus
Orphanet:183625	Orphanet:224	\N	"" []	Orphanet:224	"" []	216795	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Neonatal diabetes mellitus
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:224	"" []	571344	\N	\N	EFO	2	EFO	diabetes mellitus	Neonatal diabetes mellitus
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:224	"" []	571345	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Neonatal diabetes mellitus
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:224	"" []	1153524	\N	\N	EFO	3	EFO	metabolic disease	Neonatal diabetes mellitus
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:224	"" []	1153525	\N	\N	EFO	3	EFO	genetic disorder	Neonatal diabetes mellitus
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:224	"" []	1153526	\N	\N	EFO	3	EFO	endocrine system disease	Neonatal diabetes mellitus
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:224	"" []	2036068	\N	\N	EFO	4	EFO	disease	Neonatal diabetes mellitus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:224	"" []	2036069	\N	\N	EFO	4	EFO	disease	Neonatal diabetes mellitus
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:224	"" []	2036070	\N	\N	EFO	4	EFO	disease	Neonatal diabetes mellitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:224	"" []	3186472	\N	\N	EFO	5	EFO	disposition	Neonatal diabetes mellitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:224	"" []	4393824	\N	\N	EFO	6	EFO	material property	Neonatal diabetes mellitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:224	"" []	5412180	\N	\N	EFO	7	EFO	experimental factor	Neonatal diabetes mellitus
Orphanet:2241	\N	\N	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	74698	\N	\N	EFO	0	EFO	Megacystis-microcolon-intestinal hypoperistalsis syndrome	Megacystis-microcolon-intestinal hypoperistalsis syndrome
Orphanet:104009	Orphanet:2241	\N	"" []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	216796	\N	\N	EFO	1	EFO	Congenital intestinal motility disorder	Megacystis-microcolon-intestinal hypoperistalsis syndrome
Orphanet:93547	Orphanet:2241	\N	"" []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	216797	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Megacystis-microcolon-intestinal hypoperistalsis syndrome
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	571346	\N	\N	EFO	2	EFO	Genetic intestinal disease	Megacystis-microcolon-intestinal hypoperistalsis syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	571347	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Megacystis-microcolon-intestinal hypoperistalsis syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	1153527	\N	\N	EFO	3	EFO	digestive system disease	Megacystis-microcolon-intestinal hypoperistalsis syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	1153528	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Megacystis-microcolon-intestinal hypoperistalsis syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	1153529	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Megacystis-microcolon-intestinal hypoperistalsis syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	1153530	\N	\N	EFO	3	EFO	Rare genetic renal disease	Megacystis-microcolon-intestinal hypoperistalsis syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	2036071	\N	\N	EFO	4	EFO	disease	Megacystis-microcolon-intestinal hypoperistalsis syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	2036072	\N	\N	EFO	4	EFO	genetic disorder	Megacystis-microcolon-intestinal hypoperistalsis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	2036073	\N	\N	EFO	4	EFO	genetic disorder	Megacystis-microcolon-intestinal hypoperistalsis syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	2036074	\N	\N	EFO	4	EFO	genetic disorder	Megacystis-microcolon-intestinal hypoperistalsis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	4393826	\N	\N	EFO	6	EFO	disposition	Megacystis-microcolon-intestinal hypoperistalsis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	3186474	\N	\N	EFO	5	EFO	disease	Megacystis-microcolon-intestinal hypoperistalsis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	5182019	\N	\N	EFO	7	EFO	material property	Megacystis-microcolon-intestinal hypoperistalsis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2241	"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." []	5997396	\N	\N	EFO	8	EFO	experimental factor	Megacystis-microcolon-intestinal hypoperistalsis syndrome
Orphanet:2249	\N	\N	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	74699	\N	\N	EFO	0	EFO	Ulna hypoplasia - intellectual disability	Ulna hypoplasia - intellectual disability
Orphanet:404574	Orphanet:2249	\N	"" []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	216798	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Ulna hypoplasia - intellectual disability
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	571348	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Ulna hypoplasia - intellectual disability
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	571349	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Ulna hypoplasia - intellectual disability
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	1153531	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Ulna hypoplasia - intellectual disability
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	1153532	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Ulna hypoplasia - intellectual disability
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	2036075	\N	\N	EFO	4	EFO	Rare genetic bone disease	Ulna hypoplasia - intellectual disability
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	2036076	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Ulna hypoplasia - intellectual disability
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	2036077	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ulna hypoplasia - intellectual disability
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	3186475	\N	\N	EFO	5	EFO	genetic disorder	Ulna hypoplasia - intellectual disability
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	3186476	\N	\N	EFO	5	EFO	bone disease	Ulna hypoplasia - intellectual disability
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	3186477	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ulna hypoplasia - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	4393829	\N	\N	EFO	6	EFO	genetic disorder	Ulna hypoplasia - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	5182020	\N	\N	EFO	7	EFO	disease	Ulna hypoplasia - intellectual disability
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	4393828	\N	\N	EFO	6	EFO	skeletal system disease	Ulna hypoplasia - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	5997397	\N	\N	EFO	8	EFO	disposition	Ulna hypoplasia - intellectual disability
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	5412183	\N	\N	EFO	7	EFO	disease	Ulna hypoplasia - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	6550816	\N	\N	EFO	9	EFO	material property	Ulna hypoplasia - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2249	"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." []	6889130	\N	\N	EFO	10	EFO	experimental factor	Ulna hypoplasia - intellectual disability
Orphanet:225	\N	\N	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	74700	\N	\N	EFO	0	EFO	Maternally-inherited diabetes and deafness	Maternally-inherited diabetes and deafness
Orphanet:183625	Orphanet:225	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	216799	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Maternally-inherited diabetes and deafness
Orphanet:254776	Orphanet:225	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	216800	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Maternally-inherited diabetes and deafness
Orphanet:90642	Orphanet:225	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	216801	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Maternally-inherited diabetes and deafness
Orphanet:98695	Orphanet:225	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	216802	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	Maternally-inherited diabetes and deafness
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	571350	\N	\N	EFO	2	EFO	diabetes mellitus	Maternally-inherited diabetes and deafness
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	571351	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Maternally-inherited diabetes and deafness
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	571352	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Maternally-inherited diabetes and deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	571353	\N	\N	EFO	2	EFO	Rare genetic deafness	Maternally-inherited diabetes and deafness
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	571354	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Maternally-inherited diabetes and deafness
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	1153533	\N	\N	EFO	3	EFO	metabolic disease	Maternally-inherited diabetes and deafness
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	1153534	\N	\N	EFO	3	EFO	genetic disorder	Maternally-inherited diabetes and deafness
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	1153535	\N	\N	EFO	3	EFO	endocrine system disease	Maternally-inherited diabetes and deafness
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	1153536	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Maternally-inherited diabetes and deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	1153537	\N	\N	EFO	3	EFO	genetic disorder	Maternally-inherited diabetes and deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	1153538	\N	\N	EFO	3	EFO	auditory system disease	Maternally-inherited diabetes and deafness
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	1153539	\N	\N	EFO	3	EFO	Rare genetic eye disease	Maternally-inherited diabetes and deafness
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	6149173	\N	\N	EFO	8	EFO	disease	Maternally-inherited diabetes and deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	6149172	\N	\N	EFO	8	EFO	disease	Maternally-inherited diabetes and deafness
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	2036080	\N	\N	EFO	4	EFO	disease	Maternally-inherited diabetes and deafness
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	2036081	\N	\N	EFO	4	EFO	Mitochondrial disease	Maternally-inherited diabetes and deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	2036082	\N	\N	EFO	4	EFO	sensory system disease	Maternally-inherited diabetes and deafness
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	2036083	\N	\N	EFO	4	EFO	genetic disorder	Maternally-inherited diabetes and deafness
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	2036084	\N	\N	EFO	4	EFO	eye disease	Maternally-inherited diabetes and deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	6378854	\N	\N	EFO	9	EFO	disposition	Maternally-inherited diabetes and deafness
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	3186480	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Maternally-inherited diabetes and deafness
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	3186481	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Maternally-inherited diabetes and deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	3186482	\N	\N	EFO	5	EFO	nervous system disease	Maternally-inherited diabetes and deafness
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	3186484	\N	\N	EFO	5	EFO	disease	Maternally-inherited diabetes and deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	6778649	\N	\N	EFO	10	EFO	material property	Maternally-inherited diabetes and deafness
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	4393831	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Maternally-inherited diabetes and deafness
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	4393832	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Maternally-inherited diabetes and deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	4393833	\N	\N	EFO	6	EFO	disease	Maternally-inherited diabetes and deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	7029860	\N	\N	EFO	11	EFO	experimental factor	Maternally-inherited diabetes and deafness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	5412185	\N	\N	EFO	7	EFO	genetic disorder	Maternally-inherited diabetes and deafness
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	5412186	\N	\N	EFO	7	EFO	genetic disorder	Maternally-inherited diabetes and deafness
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:225	"Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." []	5412187	\N	\N	EFO	7	EFO	metabolic disease	Maternally-inherited diabetes and deafness
Orphanet:2250	\N	\N	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	74701	\N	\N	EFO	0	EFO	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Orphanet:181387	Orphanet:2250	\N	"" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	216803	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	571355	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	1153540	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	1153541	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	1153542	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	2036085	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	2036086	\N	\N	EFO	4	EFO	Rare genetic male infertility	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	2036087	\N	\N	EFO	4	EFO	Pituitary deficiency	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	3186485	\N	\N	EFO	5	EFO	genetic disorder	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	3186486	\N	\N	EFO	5	EFO	reproductive system disease	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	3186487	\N	\N	EFO	5	EFO	Genetic infertility	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	3186488	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	6149175	\N	\N	EFO	8	EFO	disease	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	5412191	\N	\N	EFO	7	EFO	disease	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	4393836	\N	\N	EFO	6	EFO	genetic disorder	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	4393837	\N	\N	EFO	6	EFO	reproductive system disease	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	4393838	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	6470200	\N	\N	EFO	9	EFO	disposition	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	5412192	\N	\N	EFO	7	EFO	genetic disorder	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	5412193	\N	\N	EFO	7	EFO	endocrine system disease	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	6848405	\N	\N	EFO	10	EFO	material property	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	6149176	\N	\N	EFO	8	EFO	disease	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2250	"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." []	7068420	\N	\N	EFO	11	EFO	experimental factor	Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
Orphanet:2251	\N	\N	"" []	Orphanet:2251	"" []	74702	\N	\N	EFO	0	EFO	Thumb deformity - alopecia - pigmentation anomaly	Thumb deformity - alopecia - pigmentation anomaly
Orphanet:404577	Orphanet:2251	\N	"" []	Orphanet:2251	"" []	216804	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Thumb deformity - alopecia - pigmentation anomaly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2251	"" []	571356	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Thumb deformity - alopecia - pigmentation anomaly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2251	"" []	1153543	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Thumb deformity - alopecia - pigmentation anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2251	"" []	2036088	\N	\N	EFO	4	EFO	genetic disorder	Thumb deformity - alopecia - pigmentation anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2251	"" []	3186489	\N	\N	EFO	5	EFO	disease	Thumb deformity - alopecia - pigmentation anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2251	"" []	4393839	\N	\N	EFO	6	EFO	disposition	Thumb deformity - alopecia - pigmentation anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2251	"" []	5412194	\N	\N	EFO	7	EFO	material property	Thumb deformity - alopecia - pigmentation anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2251	"" []	6149177	\N	\N	EFO	8	EFO	experimental factor	Thumb deformity - alopecia - pigmentation anomaly
Orphanet:225123	\N	\N	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	74703	\N	\N	EFO	0	EFO	Hemochromatosis type 3	Hemochromatosis type 3
Orphanet:220489	Orphanet:225123	\N	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	216805	\N	\N	EFO	1	EFO	Rare hereditary hemochromatosis	Hemochromatosis type 3
Orphanet:101940	Orphanet:220489	\N	"" []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	571357	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Hemochromatosis type 3
Orphanet:309842	Orphanet:220489	\N	"" []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	571358	\N	\N	EFO	2	EFO	Disorder of iron metabolism and transport	Hemochromatosis type 3
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	1153544	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Hemochromatosis type 3
Orphanet:309836	Orphanet:309842	\N	"" []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	1153545	\N	\N	EFO	3	EFO	Disorder of mineral absorption and transport	Hemochromatosis type 3
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	2036089	\N	\N	EFO	4	EFO	digestive system disease	Hemochromatosis type 3
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	2036090	\N	\N	EFO	4	EFO	genetic disorder	Hemochromatosis type 3
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	2036091	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Hemochromatosis type 3
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	3186490	\N	\N	EFO	5	EFO	disease	Hemochromatosis type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	5412196	\N	\N	EFO	7	EFO	disease	Hemochromatosis type 3
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	3186492	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Hemochromatosis type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	5876994	\N	\N	EFO	8	EFO	disposition	Hemochromatosis type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	4393841	\N	\N	EFO	6	EFO	genetic disorder	Hemochromatosis type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	4393842	\N	\N	EFO	6	EFO	metabolic disease	Hemochromatosis type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	6470201	\N	\N	EFO	9	EFO	material property	Hemochromatosis type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	5412197	\N	\N	EFO	7	EFO	disease	Hemochromatosis type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:225123	"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	6848406	\N	\N	EFO	10	EFO	experimental factor	Hemochromatosis type 3
Orphanet:225147	\N	\N	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	74704	\N	\N	EFO	0	EFO	Sporadic infantile bilateral striatal necrosis	Sporadic infantile bilateral striatal necrosis
Orphanet:1576	Orphanet:225147	\N	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	216806	\N	\N	EFO	1	EFO	Infantile bilateral striatal necrosis	Sporadic infantile bilateral striatal necrosis
Orphanet:183763	Orphanet:1576	\N	"" []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	571359	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Sporadic infantile bilateral striatal necrosis
Orphanet:307058	Orphanet:1576	\N	"" []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	571360	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Sporadic infantile bilateral striatal necrosis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	1153546	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Sporadic infantile bilateral striatal necrosis
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	1153547	\N	\N	EFO	3	EFO	neurodegenerative disease	Sporadic infantile bilateral striatal necrosis
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	1153548	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Sporadic infantile bilateral striatal necrosis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	2036092	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sporadic infantile bilateral striatal necrosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	2036093	\N	\N	EFO	4	EFO	nervous system disease	Sporadic infantile bilateral striatal necrosis
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	2036094	\N	\N	EFO	4	EFO	movement disorder	Sporadic infantile bilateral striatal necrosis
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	2036095	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sporadic infantile bilateral striatal necrosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	3186493	\N	\N	EFO	5	EFO	genetic disorder	Sporadic infantile bilateral striatal necrosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	4393845	\N	\N	EFO	6	EFO	disease	Sporadic infantile bilateral striatal necrosis
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	3186495	\N	\N	EFO	5	EFO	nervous system disease	Sporadic infantile bilateral striatal necrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	4393843	\N	\N	EFO	6	EFO	disease	Sporadic infantile bilateral striatal necrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	5182022	\N	\N	EFO	7	EFO	disposition	Sporadic infantile bilateral striatal necrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	5997400	\N	\N	EFO	8	EFO	material property	Sporadic infantile bilateral striatal necrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:225147	"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	6550818	\N	\N	EFO	9	EFO	experimental factor	Sporadic infantile bilateral striatal necrosis
Orphanet:225154	\N	\N	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	74705	\N	\N	EFO	0	EFO	Familial infantile bilateral striatal necrosis	Familial infantile bilateral striatal necrosis
Orphanet:1576	Orphanet:225154	\N	"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	216807	\N	\N	EFO	1	EFO	Infantile bilateral striatal necrosis	Familial infantile bilateral striatal necrosis
Orphanet:183763	Orphanet:1576	\N	"" []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	571361	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Familial infantile bilateral striatal necrosis
Orphanet:307058	Orphanet:1576	\N	"" []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	571362	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Familial infantile bilateral striatal necrosis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	1153549	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Familial infantile bilateral striatal necrosis
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	1153550	\N	\N	EFO	3	EFO	neurodegenerative disease	Familial infantile bilateral striatal necrosis
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	1153551	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Familial infantile bilateral striatal necrosis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	2036096	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Familial infantile bilateral striatal necrosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	2036097	\N	\N	EFO	4	EFO	nervous system disease	Familial infantile bilateral striatal necrosis
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	2036098	\N	\N	EFO	4	EFO	movement disorder	Familial infantile bilateral striatal necrosis
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	2036099	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Familial infantile bilateral striatal necrosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	3186496	\N	\N	EFO	5	EFO	genetic disorder	Familial infantile bilateral striatal necrosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	4393848	\N	\N	EFO	6	EFO	disease	Familial infantile bilateral striatal necrosis
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	3186498	\N	\N	EFO	5	EFO	nervous system disease	Familial infantile bilateral striatal necrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	4393846	\N	\N	EFO	6	EFO	disease	Familial infantile bilateral striatal necrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	5182023	\N	\N	EFO	7	EFO	disposition	Familial infantile bilateral striatal necrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	5997401	\N	\N	EFO	8	EFO	material property	Familial infantile bilateral striatal necrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:225154	"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." []	6550819	\N	\N	EFO	9	EFO	experimental factor	Familial infantile bilateral striatal necrosis
Orphanet:2252	\N	\N	"" []	Orphanet:2252	"" []	74706	\N	\N	EFO	0	EFO	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
Orphanet:165707	Orphanet:2252	\N	"" []	Orphanet:2252	"" []	216808	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
Orphanet:330206	Orphanet:2252	\N	"" []	Orphanet:2252	"" []	216809	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2252	"" []	571363	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2252	"" []	571364	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2252	"" []	1153552	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2252	"" []	1153553	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2252	"" []	2036100	\N	\N	EFO	4	EFO	genetic disorder	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2252	"" []	2036101	\N	\N	EFO	4	EFO	genetic disorder	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2252	"" []	3186499	\N	\N	EFO	5	EFO	disease	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2252	"" []	4393849	\N	\N	EFO	6	EFO	disposition	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2252	"" []	5412200	\N	\N	EFO	7	EFO	material property	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2252	"" []	6149181	\N	\N	EFO	8	EFO	experimental factor	Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
Orphanet:2253	\N	\N	"" []	Orphanet:2253	"" []	74707	\N	\N	EFO	0	EFO	Foveal hypoplasia - presenile cataract	Foveal hypoplasia - presenile cataract
Orphanet:98666	Orphanet:2253	\N	"" []	Orphanet:2253	"" []	216810	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Foveal hypoplasia - presenile cataract
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:2253	"" []	571365	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Foveal hypoplasia - presenile cataract
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:2253	"" []	1153554	\N	\N	EFO	3	EFO	Retinal dystrophy	Foveal hypoplasia - presenile cataract
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:2253	"" []	2036102	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Foveal hypoplasia - presenile cataract
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:2253	"" []	3186500	\N	\N	EFO	5	EFO	Rare genetic eye disease	Foveal hypoplasia - presenile cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2253	"" []	4393850	\N	\N	EFO	6	EFO	genetic disorder	Foveal hypoplasia - presenile cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2253	"" []	4393851	\N	\N	EFO	6	EFO	eye disease	Foveal hypoplasia - presenile cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2253	"" []	5412201	\N	\N	EFO	7	EFO	disease	Foveal hypoplasia - presenile cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2253	"" []	5412202	\N	\N	EFO	7	EFO	disease	Foveal hypoplasia - presenile cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2253	"" []	6149182	\N	\N	EFO	8	EFO	disposition	Foveal hypoplasia - presenile cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2253	"" []	6632519	\N	\N	EFO	9	EFO	material property	Foveal hypoplasia - presenile cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2253	"" []	6925542	\N	\N	EFO	10	EFO	experimental factor	Foveal hypoplasia - presenile cataract
Orphanet:2254	\N	\N	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	74708	\N	\N	EFO	0	EFO	Pontocerebellar hypoplasia type 1	Pontocerebellar hypoplasia type 1
Orphanet:207012	Orphanet:2254	\N	"" []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	216811	\N	\N	EFO	1	EFO	Spinal muscular atrophy associated with central nervous system anomaly	Pontocerebellar hypoplasia type 1
Orphanet:98523	Orphanet:2254	\N	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	216812	\N	\N	EFO	1	EFO	Non-syndromic pontocerebellar hypoplasia	Pontocerebellar hypoplasia type 1
Orphanet:206701	Orphanet:207012	\N	"" []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	571366	\N	\N	EFO	2	EFO	Bulbospinal muscular atrophy	Pontocerebellar hypoplasia type 1
Orphanet:269557	Orphanet:98523	\N	"" []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	571367	\N	\N	EFO	2	EFO	Genetic posterior fossa malformation	Pontocerebellar hypoplasia type 1
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	1153555	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Pontocerebellar hypoplasia type 1
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	1153556	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Pontocerebellar hypoplasia type 1
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	2036103	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Pontocerebellar hypoplasia type 1
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	2036104	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Pontocerebellar hypoplasia type 1
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	3186501	\N	\N	EFO	5	EFO	muscular disease	Pontocerebellar hypoplasia type 1
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	3186502	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pontocerebellar hypoplasia type 1
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	3186503	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pontocerebellar hypoplasia type 1
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	3186504	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pontocerebellar hypoplasia type 1
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	4393852	\N	\N	EFO	6	EFO	skeletal system disease	Pontocerebellar hypoplasia type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	4393853	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	4393854	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	5412203	\N	\N	EFO	7	EFO	disease	Pontocerebellar hypoplasia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	5412204	\N	\N	EFO	7	EFO	disease	Pontocerebellar hypoplasia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	6149183	\N	\N	EFO	8	EFO	disposition	Pontocerebellar hypoplasia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	6632520	\N	\N	EFO	9	EFO	material property	Pontocerebellar hypoplasia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2254	"Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." []	6925543	\N	\N	EFO	10	EFO	experimental factor	Pontocerebellar hypoplasia type 1
Orphanet:2255	\N	\N	"" []	Orphanet:2255	"" []	74709	\N	\N	EFO	0	EFO	Pancreatic hypoplasia - diabetes - congenital heart disease	Pancreatic hypoplasia - diabetes - congenital heart disease
Orphanet:183625	Orphanet:2255	\N	"" []	Orphanet:2255	"" []	216813	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Pancreatic hypoplasia - diabetes - congenital heart disease
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:2255	"" []	571368	\N	\N	EFO	2	EFO	diabetes mellitus	Pancreatic hypoplasia - diabetes - congenital heart disease
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:2255	"" []	571369	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Pancreatic hypoplasia - diabetes - congenital heart disease
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2255	"" []	1153557	\N	\N	EFO	3	EFO	metabolic disease	Pancreatic hypoplasia - diabetes - congenital heart disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2255	"" []	1153558	\N	\N	EFO	3	EFO	genetic disorder	Pancreatic hypoplasia - diabetes - congenital heart disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2255	"" []	1153559	\N	\N	EFO	3	EFO	endocrine system disease	Pancreatic hypoplasia - diabetes - congenital heart disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2255	"" []	2036105	\N	\N	EFO	4	EFO	disease	Pancreatic hypoplasia - diabetes - congenital heart disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2255	"" []	2036106	\N	\N	EFO	4	EFO	disease	Pancreatic hypoplasia - diabetes - congenital heart disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2255	"" []	2036107	\N	\N	EFO	4	EFO	disease	Pancreatic hypoplasia - diabetes - congenital heart disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2255	"" []	3186505	\N	\N	EFO	5	EFO	disposition	Pancreatic hypoplasia - diabetes - congenital heart disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2255	"" []	4393855	\N	\N	EFO	6	EFO	material property	Pancreatic hypoplasia - diabetes - congenital heart disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2255	"" []	5412205	\N	\N	EFO	7	EFO	experimental factor	Pancreatic hypoplasia - diabetes - congenital heart disease
Orphanet:2256	\N	\N	"" []	Orphanet:2256	"" []	74710	\N	\N	EFO	0	EFO	Fibulo-ulnar hypoplasia - renal anomalies	Fibulo-ulnar hypoplasia - renal anomalies
Orphanet:330206	Orphanet:2256	\N	"" []	Orphanet:2256	"" []	216814	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Fibulo-ulnar hypoplasia - renal anomalies
Orphanet:93547	Orphanet:2256	\N	"" []	Orphanet:2256	"" []	216815	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Fibulo-ulnar hypoplasia - renal anomalies
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2256	"" []	571370	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Fibulo-ulnar hypoplasia - renal anomalies
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2256	"" []	571371	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Fibulo-ulnar hypoplasia - renal anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2256	"" []	1153560	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fibulo-ulnar hypoplasia - renal anomalies
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2256	"" []	1153561	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fibulo-ulnar hypoplasia - renal anomalies
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2256	"" []	1153562	\N	\N	EFO	3	EFO	Rare genetic renal disease	Fibulo-ulnar hypoplasia - renal anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2256	"" []	2036108	\N	\N	EFO	4	EFO	genetic disorder	Fibulo-ulnar hypoplasia - renal anomalies
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2256	"" []	2036109	\N	\N	EFO	4	EFO	genetic disorder	Fibulo-ulnar hypoplasia - renal anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2256	"" []	3186506	\N	\N	EFO	5	EFO	disease	Fibulo-ulnar hypoplasia - renal anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2256	"" []	4393856	\N	\N	EFO	6	EFO	disposition	Fibulo-ulnar hypoplasia - renal anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2256	"" []	5412206	\N	\N	EFO	7	EFO	material property	Fibulo-ulnar hypoplasia - renal anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2256	"" []	6149184	\N	\N	EFO	8	EFO	experimental factor	Fibulo-ulnar hypoplasia - renal anomalies
Orphanet:2257	\N	\N	"" []	Orphanet:2257	"" []	74711	\N	\N	EFO	0	EFO	Familial primary pulmonary hypoplasia	Familial primary pulmonary hypoplasia
Orphanet:108993	Orphanet:2257	\N	"" []	Orphanet:2257	"" []	216816	\N	\N	EFO	1	EFO	Non-syndromic respiratory or mediastinal malformation	Familial primary pulmonary hypoplasia
Orphanet:183622	Orphanet:2257	\N	"" []	Orphanet:2257	"" []	216817	\N	\N	EFO	1	EFO	Genetic respiratory malformation	Familial primary pulmonary hypoplasia
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:2257	"" []	571372	\N	\N	EFO	2	EFO	Genetic respiratory or mediastinal malformation	Familial primary pulmonary hypoplasia
Orphanet:156610	Orphanet:183622	\N	"" []	Orphanet:2257	"" []	571373	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Familial primary pulmonary hypoplasia
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2257	"" []	1153563	\N	\N	EFO	3	EFO	respiratory system disease	Familial primary pulmonary hypoplasia
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:2257	"" []	1153564	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Familial primary pulmonary hypoplasia
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2257	"" []	1153565	\N	\N	EFO	3	EFO	genetic disorder	Familial primary pulmonary hypoplasia
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2257	"" []	1153566	\N	\N	EFO	3	EFO	respiratory system disease	Familial primary pulmonary hypoplasia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2257	"" []	2036110	\N	\N	EFO	4	EFO	disease	Familial primary pulmonary hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2257	"" []	2036111	\N	\N	EFO	4	EFO	genetic disorder	Familial primary pulmonary hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2257	"" []	3186508	\N	\N	EFO	5	EFO	disease	Familial primary pulmonary hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2257	"" []	4133557	\N	\N	EFO	6	EFO	disposition	Familial primary pulmonary hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2257	"" []	5182024	\N	\N	EFO	7	EFO	material property	Familial primary pulmonary hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2257	"" []	5997402	\N	\N	EFO	8	EFO	experimental factor	Familial primary pulmonary hypoplasia
Orphanet:225703	\N	\N	"" []	Orphanet:225703	"" []	74712	\N	\N	EFO	0	EFO	Mitochondrial disease with peripheral neuropathy	Mitochondrial disease with peripheral neuropathy
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:225703	"" []	216818	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Mitochondrial disease with peripheral neuropathy
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:225703	"" []	571374	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Mitochondrial disease with peripheral neuropathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:225703	"" []	1153567	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Mitochondrial disease with peripheral neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:225703	"" []	2036113	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Mitochondrial disease with peripheral neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:225703	"" []	3186509	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial disease with peripheral neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:225703	"" []	4393858	\N	\N	EFO	6	EFO	disease	Mitochondrial disease with peripheral neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:225703	"" []	5412208	\N	\N	EFO	7	EFO	disposition	Mitochondrial disease with peripheral neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:225703	"" []	6149185	\N	\N	EFO	8	EFO	material property	Mitochondrial disease with peripheral neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:225703	"" []	6632521	\N	\N	EFO	9	EFO	experimental factor	Mitochondrial disease with peripheral neuropathy
Orphanet:226	\N	\N	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	74713	\N	\N	EFO	0	EFO	Dihydropteridine reductase deficiency	Dihydropteridine reductase deficiency
Orphanet:238583	Orphanet:226	\N	"" []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	216819	\N	\N	EFO	1	EFO	Hyperphenylalaninemia	Dihydropteridine reductase deficiency
Orphanet:309819	Orphanet:238583	\N	"" []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	571375	\N	\N	EFO	2	EFO	Disorder of pterin metabolism	Dihydropteridine reductase deficiency
Orphanet:68385	Orphanet:238583	\N	"" []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	571376	\N	\N	EFO	2	EFO	Neurometabolic disease	Dihydropteridine reductase deficiency
Orphanet:79169	Orphanet:309819	\N	"" []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	1153568	\N	\N	EFO	3	EFO	Disorder of neurotransmitter metabolism and transport	Dihydropteridine reductase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	1153569	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Dihydropteridine reductase deficiency
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	2036114	\N	\N	EFO	4	EFO	Disorder of biogenic amine metabolism and transport	Dihydropteridine reductase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	2036115	\N	\N	EFO	4	EFO	genetic disorder	Dihydropteridine reductase deficiency
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	3186510	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Dihydropteridine reductase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	5412209	\N	\N	EFO	7	EFO	disease	Dihydropteridine reductase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	4393859	\N	\N	EFO	6	EFO	genetic disorder	Dihydropteridine reductase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	4393860	\N	\N	EFO	6	EFO	metabolic disease	Dihydropteridine reductase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	5876995	\N	\N	EFO	8	EFO	disposition	Dihydropteridine reductase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	5412210	\N	\N	EFO	7	EFO	disease	Dihydropteridine reductase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	6470202	\N	\N	EFO	9	EFO	material property	Dihydropteridine reductase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:226	"Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." []	6848407	\N	\N	EFO	10	EFO	experimental factor	Dihydropteridine reductase deficiency
Orphanet:2261	\N	\N	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	74714	\N	\N	EFO	0	EFO	Hypospadias - intellectual disability, Goldblatt type	Hypospadias - intellectual disability, Goldblatt type
Orphanet:102283	Orphanet:2261	\N	"" []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	216820	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Hypospadias - intellectual disability, Goldblatt type
Orphanet:165707	Orphanet:2261	\N	"" []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	216821	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Hypospadias - intellectual disability, Goldblatt type
Orphanet:183763	Orphanet:2261	\N	"" []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	216822	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hypospadias - intellectual disability, Goldblatt type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	571377	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hypospadias - intellectual disability, Goldblatt type
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	571378	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Hypospadias - intellectual disability, Goldblatt type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	571379	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hypospadias - intellectual disability, Goldblatt type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	1153570	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypospadias - intellectual disability, Goldblatt type
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	1153571	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Hypospadias - intellectual disability, Goldblatt type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	1153572	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hypospadias - intellectual disability, Goldblatt type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	2036116	\N	\N	EFO	4	EFO	genetic disorder	Hypospadias - intellectual disability, Goldblatt type
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	2036117	\N	\N	EFO	4	EFO	genetic disorder	Hypospadias - intellectual disability, Goldblatt type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	2036118	\N	\N	EFO	4	EFO	genetic disorder	Hypospadias - intellectual disability, Goldblatt type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	3186512	\N	\N	EFO	5	EFO	disease	Hypospadias - intellectual disability, Goldblatt type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	4393862	\N	\N	EFO	6	EFO	disposition	Hypospadias - intellectual disability, Goldblatt type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	5412212	\N	\N	EFO	7	EFO	material property	Hypospadias - intellectual disability, Goldblatt type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2261	"Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." []	6149187	\N	\N	EFO	8	EFO	experimental factor	Hypospadias - intellectual disability, Goldblatt type
Orphanet:226292	\N	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	74715	\N	\N	EFO	0	EFO	Permanent congenital hypothyroidism	Permanent congenital hypothyroidism
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	216823	\N	\N	EFO	1	EFO	Congenital hypothyroidism	Permanent congenital hypothyroidism
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	571380	\N	\N	EFO	2	EFO	Rare hypothyroidism	Permanent congenital hypothyroidism
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	1153573	\N	\N	EFO	3	EFO	Rare genetic thyroid disease	Permanent congenital hypothyroidism
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	2036119	\N	\N	EFO	4	EFO	thyroid disease	Permanent congenital hypothyroidism
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	2036120	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Permanent congenital hypothyroidism
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	3186513	\N	\N	EFO	5	EFO	endocrine system disease	Permanent congenital hypothyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	3186514	\N	\N	EFO	5	EFO	genetic disorder	Permanent congenital hypothyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	3186515	\N	\N	EFO	5	EFO	endocrine system disease	Permanent congenital hypothyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	4393863	\N	\N	EFO	6	EFO	disease	Permanent congenital hypothyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	4393864	\N	\N	EFO	6	EFO	disease	Permanent congenital hypothyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	5412213	\N	\N	EFO	7	EFO	disposition	Permanent congenital hypothyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	6149188	\N	\N	EFO	8	EFO	material property	Permanent congenital hypothyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:226292	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	6632522	\N	\N	EFO	9	EFO	experimental factor	Permanent congenital hypothyroidism
Orphanet:226295	\N	\N	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	74716	\N	\N	EFO	0	EFO	Primary congenital hypothyroidism	Primary congenital hypothyroidism
Orphanet:226292	Orphanet:226295	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	216824	\N	\N	EFO	1	EFO	Permanent congenital hypothyroidism	Primary congenital hypothyroidism
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	571381	\N	\N	EFO	2	EFO	Congenital hypothyroidism	Primary congenital hypothyroidism
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	1153574	\N	\N	EFO	3	EFO	Rare hypothyroidism	Primary congenital hypothyroidism
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	2036121	\N	\N	EFO	4	EFO	Rare genetic thyroid disease	Primary congenital hypothyroidism
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	3186516	\N	\N	EFO	5	EFO	thyroid disease	Primary congenital hypothyroidism
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	3186517	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Primary congenital hypothyroidism
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	4393865	\N	\N	EFO	6	EFO	endocrine system disease	Primary congenital hypothyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	4393866	\N	\N	EFO	6	EFO	genetic disorder	Primary congenital hypothyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	4393867	\N	\N	EFO	6	EFO	endocrine system disease	Primary congenital hypothyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	5412214	\N	\N	EFO	7	EFO	disease	Primary congenital hypothyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	5412215	\N	\N	EFO	7	EFO	disease	Primary congenital hypothyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	6149189	\N	\N	EFO	8	EFO	disposition	Primary congenital hypothyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	6632523	\N	\N	EFO	9	EFO	material property	Primary congenital hypothyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:226295	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	6925544	\N	\N	EFO	10	EFO	experimental factor	Primary congenital hypothyroidism
Orphanet:226298	\N	\N	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	74717	\N	\N	EFO	0	EFO	Central congenital hypothyroidism	Central congenital hypothyroidism
Orphanet:226292	Orphanet:226298	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	216825	\N	\N	EFO	1	EFO	Permanent congenital hypothyroidism	Central congenital hypothyroidism
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	571382	\N	\N	EFO	2	EFO	Congenital hypothyroidism	Central congenital hypothyroidism
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	1153575	\N	\N	EFO	3	EFO	Rare hypothyroidism	Central congenital hypothyroidism
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	2036122	\N	\N	EFO	4	EFO	Rare genetic thyroid disease	Central congenital hypothyroidism
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	3186518	\N	\N	EFO	5	EFO	thyroid disease	Central congenital hypothyroidism
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	3186519	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Central congenital hypothyroidism
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	4393868	\N	\N	EFO	6	EFO	endocrine system disease	Central congenital hypothyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	4393869	\N	\N	EFO	6	EFO	genetic disorder	Central congenital hypothyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	4393870	\N	\N	EFO	6	EFO	endocrine system disease	Central congenital hypothyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	5412216	\N	\N	EFO	7	EFO	disease	Central congenital hypothyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	5412217	\N	\N	EFO	7	EFO	disease	Central congenital hypothyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	6149190	\N	\N	EFO	8	EFO	disposition	Central congenital hypothyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	6632524	\N	\N	EFO	9	EFO	material property	Central congenital hypothyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:226298	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	6925545	\N	\N	EFO	10	EFO	experimental factor	Central congenital hypothyroidism
Orphanet:226307	\N	\N	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	74718	\N	\N	EFO	0	EFO	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Orphanet:226298	Orphanet:226307	\N	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	216826	\N	\N	EFO	1	EFO	Central congenital hypothyroidism	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Orphanet:226292	Orphanet:226298	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	571383	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	1153576	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	2036123	\N	\N	EFO	4	EFO	Rare hypothyroidism	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	3186520	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	4393871	\N	\N	EFO	6	EFO	thyroid disease	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	4393872	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	5412218	\N	\N	EFO	7	EFO	endocrine system disease	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	5412219	\N	\N	EFO	7	EFO	genetic disorder	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	5412220	\N	\N	EFO	7	EFO	endocrine system disease	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	6149191	\N	\N	EFO	8	EFO	disease	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	6149192	\N	\N	EFO	8	EFO	disease	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	6632525	\N	\N	EFO	9	EFO	disposition	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	6925546	\N	\N	EFO	10	EFO	material property	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:226307	"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." []	7099046	\N	\N	EFO	11	EFO	experimental factor	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Orphanet:226310	\N	\N	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	74719	\N	\N	EFO	0	EFO	Peripheral hypothyroidism	Peripheral hypothyroidism
Orphanet:226292	Orphanet:226310	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	216827	\N	\N	EFO	1	EFO	Permanent congenital hypothyroidism	Peripheral hypothyroidism
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	571384	\N	\N	EFO	2	EFO	Congenital hypothyroidism	Peripheral hypothyroidism
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	1153577	\N	\N	EFO	3	EFO	Rare hypothyroidism	Peripheral hypothyroidism
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	2036124	\N	\N	EFO	4	EFO	Rare genetic thyroid disease	Peripheral hypothyroidism
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	3186521	\N	\N	EFO	5	EFO	thyroid disease	Peripheral hypothyroidism
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	3186522	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Peripheral hypothyroidism
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	4393873	\N	\N	EFO	6	EFO	endocrine system disease	Peripheral hypothyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	4393874	\N	\N	EFO	6	EFO	genetic disorder	Peripheral hypothyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	4393875	\N	\N	EFO	6	EFO	endocrine system disease	Peripheral hypothyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	5412221	\N	\N	EFO	7	EFO	disease	Peripheral hypothyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	5412222	\N	\N	EFO	7	EFO	disease	Peripheral hypothyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	6149193	\N	\N	EFO	8	EFO	disposition	Peripheral hypothyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	6632526	\N	\N	EFO	9	EFO	material property	Peripheral hypothyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:226310	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	6925547	\N	\N	EFO	10	EFO	experimental factor	Peripheral hypothyroidism
Orphanet:226316	\N	\N	"" []	Orphanet:226316	"" []	74720	\N	\N	EFO	0	EFO	Genetic transient congenital hypothyroidism	Genetic transient congenital hypothyroidism
Orphanet:442	Orphanet:226316	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:226316	"" []	216828	\N	\N	EFO	1	EFO	Congenital hypothyroidism	Genetic transient congenital hypothyroidism
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:226316	"" []	571385	\N	\N	EFO	2	EFO	Rare hypothyroidism	Genetic transient congenital hypothyroidism
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:226316	"" []	1153578	\N	\N	EFO	3	EFO	Rare genetic thyroid disease	Genetic transient congenital hypothyroidism
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:226316	"" []	2036125	\N	\N	EFO	4	EFO	thyroid disease	Genetic transient congenital hypothyroidism
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:226316	"" []	2036126	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Genetic transient congenital hypothyroidism
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:226316	"" []	3186523	\N	\N	EFO	5	EFO	endocrine system disease	Genetic transient congenital hypothyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:226316	"" []	3186524	\N	\N	EFO	5	EFO	genetic disorder	Genetic transient congenital hypothyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:226316	"" []	3186525	\N	\N	EFO	5	EFO	endocrine system disease	Genetic transient congenital hypothyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226316	"" []	4393876	\N	\N	EFO	6	EFO	disease	Genetic transient congenital hypothyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:226316	"" []	4393877	\N	\N	EFO	6	EFO	disease	Genetic transient congenital hypothyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:226316	"" []	5412223	\N	\N	EFO	7	EFO	disposition	Genetic transient congenital hypothyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:226316	"" []	6149194	\N	\N	EFO	8	EFO	material property	Genetic transient congenital hypothyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:226316	"" []	6632527	\N	\N	EFO	9	EFO	experimental factor	Genetic transient congenital hypothyroidism
Orphanet:2266	\N	\N	"" []	Orphanet:2266	"" []	74721	\N	\N	EFO	0	EFO	Hypotrichosis-intellectual disability, Lopes type	Hypotrichosis-intellectual disability, Lopes type
Orphanet:183763	Orphanet:2266	\N	"" []	Orphanet:2266	"" []	216829	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hypotrichosis-intellectual disability, Lopes type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2266	"" []	571386	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hypotrichosis-intellectual disability, Lopes type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2266	"" []	1153579	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hypotrichosis-intellectual disability, Lopes type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2266	"" []	2036127	\N	\N	EFO	4	EFO	genetic disorder	Hypotrichosis-intellectual disability, Lopes type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2266	"" []	3186526	\N	\N	EFO	5	EFO	disease	Hypotrichosis-intellectual disability, Lopes type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2266	"" []	4393878	\N	\N	EFO	6	EFO	disposition	Hypotrichosis-intellectual disability, Lopes type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2266	"" []	5412224	\N	\N	EFO	7	EFO	material property	Hypotrichosis-intellectual disability, Lopes type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2266	"" []	6149195	\N	\N	EFO	8	EFO	experimental factor	Hypotrichosis-intellectual disability, Lopes type
Orphanet:2267	\N	\N	"" []	Orphanet:2267	"" []	74722	\N	\N	EFO	0	EFO	Ichthyosis-cheek-eyebrow syndrome	Ichthyosis-cheek-eyebrow syndrome
Orphanet:281244	Orphanet:2267	\N	"" []	Orphanet:2267	"" []	216830	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	Ichthyosis-cheek-eyebrow syndrome
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:2267	"" []	571387	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Ichthyosis-cheek-eyebrow syndrome
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:2267	"" []	1153580	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Ichthyosis-cheek-eyebrow syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:2267	"" []	2036128	\N	\N	EFO	4	EFO	Inherited ichthyosis	Ichthyosis-cheek-eyebrow syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:2267	"" []	3186527	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Ichthyosis-cheek-eyebrow syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2267	"" []	4393879	\N	\N	EFO	6	EFO	Rare genetic skin disease	Ichthyosis-cheek-eyebrow syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2267	"" []	5412225	\N	\N	EFO	7	EFO	genetic disorder	Ichthyosis-cheek-eyebrow syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2267	"" []	5412226	\N	\N	EFO	7	EFO	skin disease	Ichthyosis-cheek-eyebrow syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2267	"" []	6149196	\N	\N	EFO	8	EFO	disease	Ichthyosis-cheek-eyebrow syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2267	"" []	6149197	\N	\N	EFO	8	EFO	disease	Ichthyosis-cheek-eyebrow syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2267	"" []	6632528	\N	\N	EFO	9	EFO	disposition	Ichthyosis-cheek-eyebrow syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2267	"" []	6925548	\N	\N	EFO	10	EFO	material property	Ichthyosis-cheek-eyebrow syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2267	"" []	7099047	\N	\N	EFO	11	EFO	experimental factor	Ichthyosis-cheek-eyebrow syndrome
Orphanet:2268	\N	\N	"" []	Orphanet:2268	"" []	74723	\N	\N	EFO	0	EFO	ICF syndrome	ICF syndrome
Orphanet:169346	Orphanet:2268	\N	"" []	Orphanet:2268	"" []	216831	\N	\N	EFO	1	EFO	DNA repair defect other than combined T-cell and B-cell immunodeficiencies	ICF syndrome
Orphanet:229720	Orphanet:2268	\N	"" []	Orphanet:2268	"" []	216832	\N	\N	EFO	1	EFO	Syndromic agammaglobulinemia	ICF syndrome
Orphanet:331217	Orphanet:169346	\N	"" []	Orphanet:2268	"" []	571388	\N	\N	EFO	2	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	ICF syndrome
Orphanet:183669	Orphanet:229720	\N	"" []	Orphanet:2268	"" []	571389	\N	\N	EFO	2	EFO	Agammaglobulinemia	ICF syndrome
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:2268	"" []	1153581	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	ICF syndrome
Orphanet:101977	Orphanet:183669	\N	"" []	Orphanet:2268	"" []	1153582	\N	\N	EFO	3	EFO	Immunodeficiency predominantly affecting antibody production	ICF syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:2268	"" []	3186529	\N	\N	EFO	5	EFO	Primary immunodeficiency	ICF syndrome
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:2268	"" []	2036130	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	ICF syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:2268	"" []	4133558	\N	\N	EFO	6	EFO	Rare genetic immune disease	ICF syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2268	"" []	5182025	\N	\N	EFO	7	EFO	genetic disorder	ICF syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:2268	"" []	5182026	\N	\N	EFO	7	EFO	immune system disease	ICF syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2268	"" []	5997403	\N	\N	EFO	8	EFO	disease	ICF syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2268	"" []	5997404	\N	\N	EFO	8	EFO	disease	ICF syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2268	"" []	6550820	\N	\N	EFO	9	EFO	disposition	ICF syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2268	"" []	6889132	\N	\N	EFO	10	EFO	material property	ICF syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2268	"" []	7085914	\N	\N	EFO	11	EFO	experimental factor	ICF syndrome
Orphanet:2269	\N	\N	"" []	Orphanet:2269	"" []	74724	\N	\N	EFO	0	EFO	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:183763	Orphanet:2269	\N	"" []	Orphanet:2269	"" []	216833	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:281238	Orphanet:2269	\N	"" []	Orphanet:2269	"" []	216834	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with prominent neurologics signs	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:79373	Orphanet:2269	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2269	"" []	216835	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2269	"" []	571390	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:281217	Orphanet:281238	\N	"" []	Orphanet:2269	"" []	571391	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2269	"" []	571392	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2269	"" []	571393	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2269	"" []	1153583	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:2269	"" []	1153584	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2269	"" []	1153585	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2269	"" []	1153586	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2269	"" []	2036131	\N	\N	EFO	4	EFO	genetic disorder	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:2269	"" []	2036132	\N	\N	EFO	4	EFO	Inherited ichthyosis	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2269	"" []	2036133	\N	\N	EFO	4	EFO	genetic disorder	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2269	"" []	5412230	\N	\N	EFO	7	EFO	genetic disorder	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2269	"" []	5412231	\N	\N	EFO	7	EFO	skin disease	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2269	"" []	5817571	\N	\N	EFO	8	EFO	disease	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:2269	"" []	3186531	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2269	"" []	5817572	\N	\N	EFO	8	EFO	disease	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2269	"" []	6409961	\N	\N	EFO	9	EFO	disposition	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2269	"" []	4393883	\N	\N	EFO	6	EFO	Rare genetic skin disease	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2269	"" []	6807803	\N	\N	EFO	10	EFO	material property	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2269	"" []	7048602	\N	\N	EFO	11	EFO	experimental factor	Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
Orphanet:2271	\N	\N	"" []	Orphanet:2271	"" []	74725	\N	\N	EFO	0	EFO	Congenital ichthyosis - microcephalus - tetraplegia	Congenital ichthyosis - microcephalus - tetraplegia
Orphanet:281238	Orphanet:2271	\N	"" []	Orphanet:2271	"" []	216836	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with prominent neurologics signs	Congenital ichthyosis - microcephalus - tetraplegia
Orphanet:281217	Orphanet:281238	\N	"" []	Orphanet:2271	"" []	571394	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Congenital ichthyosis - microcephalus - tetraplegia
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:2271	"" []	1153587	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Congenital ichthyosis - microcephalus - tetraplegia
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:2271	"" []	2036136	\N	\N	EFO	4	EFO	Inherited ichthyosis	Congenital ichthyosis - microcephalus - tetraplegia
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:2271	"" []	3186533	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Congenital ichthyosis - microcephalus - tetraplegia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2271	"" []	4393884	\N	\N	EFO	6	EFO	Rare genetic skin disease	Congenital ichthyosis - microcephalus - tetraplegia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2271	"" []	5412232	\N	\N	EFO	7	EFO	genetic disorder	Congenital ichthyosis - microcephalus - tetraplegia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2271	"" []	5412233	\N	\N	EFO	7	EFO	skin disease	Congenital ichthyosis - microcephalus - tetraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2271	"" []	6149200	\N	\N	EFO	8	EFO	disease	Congenital ichthyosis - microcephalus - tetraplegia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2271	"" []	6149201	\N	\N	EFO	8	EFO	disease	Congenital ichthyosis - microcephalus - tetraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2271	"" []	6632530	\N	\N	EFO	9	EFO	disposition	Congenital ichthyosis - microcephalus - tetraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2271	"" []	6925550	\N	\N	EFO	10	EFO	material property	Congenital ichthyosis - microcephalus - tetraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2271	"" []	7099048	\N	\N	EFO	11	EFO	experimental factor	Congenital ichthyosis - microcephalus - tetraplegia
Orphanet:2272	\N	\N	"" []	Orphanet:2272	"" []	74726	\N	\N	EFO	0	EFO	Ichthyosis - oral and digital anomalies	Ichthyosis - oral and digital anomalies
Orphanet:139027	Orphanet:2272	\N	"" []	Orphanet:2272	"" []	216837	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Ichthyosis - oral and digital anomalies
Orphanet:281244	Orphanet:2272	\N	"" []	Orphanet:2272	"" []	216838	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	Ichthyosis - oral and digital anomalies
Orphanet:330206	Orphanet:2272	\N	"" []	Orphanet:2272	"" []	216839	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Ichthyosis - oral and digital anomalies
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2272	"" []	571395	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ichthyosis - oral and digital anomalies
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:2272	"" []	571396	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Ichthyosis - oral and digital anomalies
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2272	"" []	571397	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ichthyosis - oral and digital anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2272	"" []	2036139	\N	\N	EFO	4	EFO	genetic disorder	Ichthyosis - oral and digital anomalies
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:2272	"" []	1153589	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Ichthyosis - oral and digital anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2272	"" []	1153590	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ichthyosis - oral and digital anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2272	"" []	6149202	\N	\N	EFO	8	EFO	disease	Ichthyosis - oral and digital anomalies
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:2272	"" []	2036138	\N	\N	EFO	4	EFO	Inherited ichthyosis	Ichthyosis - oral and digital anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2272	"" []	6378855	\N	\N	EFO	9	EFO	disposition	Ichthyosis - oral and digital anomalies
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:2272	"" []	3186535	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Ichthyosis - oral and digital anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2272	"" []	6778650	\N	\N	EFO	10	EFO	material property	Ichthyosis - oral and digital anomalies
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2272	"" []	4393886	\N	\N	EFO	6	EFO	Rare genetic skin disease	Ichthyosis - oral and digital anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2272	"" []	7029861	\N	\N	EFO	11	EFO	experimental factor	Ichthyosis - oral and digital anomalies
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2272	"" []	5412235	\N	\N	EFO	7	EFO	genetic disorder	Ichthyosis - oral and digital anomalies
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2272	"" []	5412236	\N	\N	EFO	7	EFO	skin disease	Ichthyosis - oral and digital anomalies
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2272	"" []	6149203	\N	\N	EFO	8	EFO	disease	Ichthyosis - oral and digital anomalies
Orphanet:2273	\N	\N	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	74727	\N	\N	EFO	0	EFO	Ichthyosis follicularis - alopecia - photophobia	Ichthyosis follicularis - alopecia - photophobia
Orphanet:139027	Orphanet:2273	\N	"" []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	216840	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Ichthyosis follicularis - alopecia - photophobia
Orphanet:281210	Orphanet:2273	\N	"" []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	216841	\N	\N	EFO	1	EFO	X-linked ichthyosis syndrome	Ichthyosis follicularis - alopecia - photophobia
Orphanet:79364	Orphanet:2273	\N	"" []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	216842	\N	\N	EFO	1	EFO	Alopecia	Ichthyosis follicularis - alopecia - photophobia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	571398	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ichthyosis follicularis - alopecia - photophobia
Orphanet:281085	Orphanet:281210	\N	"" []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	571399	\N	\N	EFO	2	EFO	Inherited ichthyosis syndromic form	Ichthyosis follicularis - alopecia - photophobia
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	571400	\N	\N	EFO	2	EFO	Genetic hair anomaly	Ichthyosis follicularis - alopecia - photophobia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	1153591	\N	\N	EFO	3	EFO	genetic disorder	Ichthyosis follicularis - alopecia - photophobia
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	1153592	\N	\N	EFO	3	EFO	Inherited ichthyosis	Ichthyosis follicularis - alopecia - photophobia
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	1153593	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Ichthyosis follicularis - alopecia - photophobia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	5182028	\N	\N	EFO	7	EFO	disease	Ichthyosis follicularis - alopecia - photophobia
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	2036141	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Ichthyosis follicularis - alopecia - photophobia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	2036142	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ichthyosis follicularis - alopecia - photophobia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	5817573	\N	\N	EFO	8	EFO	disposition	Ichthyosis follicularis - alopecia - photophobia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	3186537	\N	\N	EFO	5	EFO	Rare genetic skin disease	Ichthyosis follicularis - alopecia - photophobia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	4393888	\N	\N	EFO	6	EFO	genetic disorder	Ichthyosis follicularis - alopecia - photophobia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	4393889	\N	\N	EFO	6	EFO	skin disease	Ichthyosis follicularis - alopecia - photophobia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	6409962	\N	\N	EFO	9	EFO	material property	Ichthyosis follicularis - alopecia - photophobia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	5182029	\N	\N	EFO	7	EFO	disease	Ichthyosis follicularis - alopecia - photophobia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2273	"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." []	6807804	\N	\N	EFO	10	EFO	experimental factor	Ichthyosis follicularis - alopecia - photophobia
Orphanet:2274	\N	\N	"" []	Orphanet:2274	"" []	74728	\N	\N	EFO	0	EFO	Ichthyosis - hepatosplenomegaly - cerebellar degeneration	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Orphanet:183518	Orphanet:2274	\N	"" []	Orphanet:2274	"" []	216843	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Orphanet:281244	Orphanet:2274	\N	"" []	Orphanet:2274	"" []	216844	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:2274	"" []	571401	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:2274	"" []	571402	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2274	"" []	1153594	\N	\N	EFO	3	EFO	genetic disorder	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:2274	"" []	1153595	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2274	"" []	6149204	\N	\N	EFO	8	EFO	disease	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:2274	"" []	2036144	\N	\N	EFO	4	EFO	Inherited ichthyosis	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2274	"" []	6378856	\N	\N	EFO	9	EFO	disposition	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:2274	"" []	3186541	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2274	"" []	6778651	\N	\N	EFO	10	EFO	material property	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2274	"" []	4393893	\N	\N	EFO	6	EFO	Rare genetic skin disease	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2274	"" []	7029862	\N	\N	EFO	11	EFO	experimental factor	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2274	"" []	5412239	\N	\N	EFO	7	EFO	genetic disorder	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2274	"" []	5412240	\N	\N	EFO	7	EFO	skin disease	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2274	"" []	6149205	\N	\N	EFO	8	EFO	disease	Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Orphanet:227535	\N	\N	"" []	Orphanet:227535	"" []	74729	\N	\N	EFO	0	EFO	Hereditary breast cancer	Hereditary breast cancer
EFO:0000305	Orphanet:227535	\N	"Tumors or cancer of the human BREAST." []	Orphanet:227535	"" []	216845	\N	\N	EFO	1	EFO	breast carcinoma	Hereditary breast cancer
Orphanet:183734	Orphanet:227535	\N	"" []	Orphanet:227535	"" []	216846	\N	\N	EFO	1	EFO	Genetic gynecological tumor	Hereditary breast cancer
EFO:0000313	EFO:0000305	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	Orphanet:227535	"" []	571403	\N	\N	EFO	2	EFO	carcinoma	Hereditary breast cancer
EFO:0000512	Orphanet:183734	\N	"any diease of the reproductive system" []	Orphanet:227535	"" []	571404	\N	\N	EFO	2	EFO	reproductive system disease	Hereditary breast cancer
EFO:0003863	Orphanet:183734	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:227535	"" []	571405	\N	\N	EFO	2	EFO	urogenital neoplasm	Hereditary breast cancer
Orphanet:68336	Orphanet:183734	\N	"" []	Orphanet:227535	"" []	571406	\N	\N	EFO	2	EFO	Rare genetic tumor	Hereditary breast cancer
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	Orphanet:227535	"" []	1153596	\N	\N	EFO	3	EFO	cancer	Hereditary breast cancer
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	Orphanet:227535	"" []	1153597	\N	\N	EFO	3	EFO	epithelial neoplasm	Hereditary breast cancer
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:227535	"" []	1153598	\N	\N	EFO	3	EFO	disease	Hereditary breast cancer
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:227535	"" []	1153599	\N	\N	EFO	3	EFO	neoplasm	Hereditary breast cancer
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:227535	"" []	1153600	\N	\N	EFO	3	EFO	genetic disorder	Hereditary breast cancer
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:227535	"" []	1153601	\N	\N	EFO	3	EFO	neoplasm	Hereditary breast cancer
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:227535	"" []	2036145	\N	\N	EFO	4	EFO	neoplasm	Hereditary breast cancer
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:227535	"" []	2036146	\N	\N	EFO	4	EFO	neoplasm	Hereditary breast cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:227535	"" []	4133561	\N	\N	EFO	6	EFO	disposition	Hereditary breast cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:227535	"" []	3186542	\N	\N	EFO	5	EFO	disease	Hereditary breast cancer
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:227535	"" []	2036149	\N	\N	EFO	4	EFO	disease	Hereditary breast cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:227535	"" []	5059769	\N	\N	EFO	7	EFO	material property	Hereditary breast cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:227535	"" []	5876997	\N	\N	EFO	8	EFO	experimental factor	Hereditary breast cancer
Orphanet:227786	\N	\N	"" []	Orphanet:227786	"" []	74730	\N	\N	EFO	0	EFO	Familial flecked retinopathy	Familial flecked retinopathy
Orphanet:98664	Orphanet:227786	\N	"" []	Orphanet:227786	"" []	216847	\N	\N	EFO	1	EFO	Genetic macular dystrophy	Familial flecked retinopathy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:227786	"" []	571407	\N	\N	EFO	2	EFO	Retinal dystrophy	Familial flecked retinopathy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:227786	"" []	1153602	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Familial flecked retinopathy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:227786	"" []	2036150	\N	\N	EFO	4	EFO	Rare genetic eye disease	Familial flecked retinopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:227786	"" []	3186545	\N	\N	EFO	5	EFO	genetic disorder	Familial flecked retinopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:227786	"" []	3186546	\N	\N	EFO	5	EFO	eye disease	Familial flecked retinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:227786	"" []	4393895	\N	\N	EFO	6	EFO	disease	Familial flecked retinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:227786	"" []	4393896	\N	\N	EFO	6	EFO	disease	Familial flecked retinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:227786	"" []	5412241	\N	\N	EFO	7	EFO	disposition	Familial flecked retinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:227786	"" []	6149206	\N	\N	EFO	8	EFO	material property	Familial flecked retinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:227786	"" []	6632531	\N	\N	EFO	9	EFO	experimental factor	Familial flecked retinopathy
Orphanet:227796	\N	\N	"" []	Orphanet:227796	"" []	74731	\N	\N	EFO	0	EFO	Fundus albipunctatus	Fundus albipunctatus
Orphanet:227786	Orphanet:227796	\N	"" []	Orphanet:227796	"" []	216848	\N	\N	EFO	1	EFO	Familial flecked retinopathy	Fundus albipunctatus
Orphanet:98664	Orphanet:227786	\N	"" []	Orphanet:227796	"" []	571408	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Fundus albipunctatus
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:227796	"" []	1153603	\N	\N	EFO	3	EFO	Retinal dystrophy	Fundus albipunctatus
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:227796	"" []	2036151	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Fundus albipunctatus
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:227796	"" []	3186547	\N	\N	EFO	5	EFO	Rare genetic eye disease	Fundus albipunctatus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:227796	"" []	4393897	\N	\N	EFO	6	EFO	genetic disorder	Fundus albipunctatus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:227796	"" []	4393898	\N	\N	EFO	6	EFO	eye disease	Fundus albipunctatus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:227796	"" []	5412242	\N	\N	EFO	7	EFO	disease	Fundus albipunctatus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:227796	"" []	5412243	\N	\N	EFO	7	EFO	disease	Fundus albipunctatus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:227796	"" []	6149207	\N	\N	EFO	8	EFO	disposition	Fundus albipunctatus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:227796	"" []	6632532	\N	\N	EFO	9	EFO	material property	Fundus albipunctatus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:227796	"" []	6925551	\N	\N	EFO	10	EFO	experimental factor	Fundus albipunctatus
Orphanet:2278	\N	\N	"" []	Orphanet:2278	"" []	74732	\N	\N	EFO	0	EFO	Ichthyosis - intellectual disability - dwarfism - renal impairment	Ichthyosis - intellectual disability - dwarfism - renal impairment
Orphanet:281244	Orphanet:2278	\N	"" []	Orphanet:2278	"" []	216849	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	Ichthyosis - intellectual disability - dwarfism - renal impairment
Orphanet:93547	Orphanet:2278	\N	"" []	Orphanet:2278	"" []	216850	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Ichthyosis - intellectual disability - dwarfism - renal impairment
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:2278	"" []	571409	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Ichthyosis - intellectual disability - dwarfism - renal impairment
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2278	"" []	571410	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Ichthyosis - intellectual disability - dwarfism - renal impairment
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:2278	"" []	1153604	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Ichthyosis - intellectual disability - dwarfism - renal impairment
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2278	"" []	1153605	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ichthyosis - intellectual disability - dwarfism - renal impairment
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2278	"" []	1153606	\N	\N	EFO	3	EFO	Rare genetic renal disease	Ichthyosis - intellectual disability - dwarfism - renal impairment
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:2278	"" []	2036152	\N	\N	EFO	4	EFO	Inherited ichthyosis	Ichthyosis - intellectual disability - dwarfism - renal impairment
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2278	"" []	2036153	\N	\N	EFO	4	EFO	genetic disorder	Ichthyosis - intellectual disability - dwarfism - renal impairment
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2278	"" []	2036154	\N	\N	EFO	4	EFO	genetic disorder	Ichthyosis - intellectual disability - dwarfism - renal impairment
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:2278	"" []	3186548	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Ichthyosis - intellectual disability - dwarfism - renal impairment
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2278	"" []	6149208	\N	\N	EFO	8	EFO	disease	Ichthyosis - intellectual disability - dwarfism - renal impairment
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2278	"" []	4393899	\N	\N	EFO	6	EFO	Rare genetic skin disease	Ichthyosis - intellectual disability - dwarfism - renal impairment
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2278	"" []	6409963	\N	\N	EFO	9	EFO	disposition	Ichthyosis - intellectual disability - dwarfism - renal impairment
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2278	"" []	5412244	\N	\N	EFO	7	EFO	genetic disorder	Ichthyosis - intellectual disability - dwarfism - renal impairment
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2278	"" []	5412245	\N	\N	EFO	7	EFO	skin disease	Ichthyosis - intellectual disability - dwarfism - renal impairment
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2278	"" []	6807805	\N	\N	EFO	10	EFO	material property	Ichthyosis - intellectual disability - dwarfism - renal impairment
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2278	"" []	6149209	\N	\N	EFO	8	EFO	disease	Ichthyosis - intellectual disability - dwarfism - renal impairment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2278	"" []	7048603	\N	\N	EFO	11	EFO	experimental factor	Ichthyosis - intellectual disability - dwarfism - renal impairment
Orphanet:227976	\N	\N	"" []	Orphanet:227976	"" []	74733	\N	\N	EFO	0	EFO	Autosomal recessive optic atrophy, OPA7 type	Autosomal recessive optic atrophy, OPA7 type
Orphanet:254822	Orphanet:227976	\N	"" []	Orphanet:227976	"" []	216851	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder with no known mechanism	Autosomal recessive optic atrophy, OPA7 type
Orphanet:98676	Orphanet:227976	\N	"" []	Orphanet:227976	"" []	216852	\N	\N	EFO	1	EFO	Autosomal recessive isolated optic atrophy	Autosomal recessive optic atrophy, OPA7 type
Orphanet:2443	Orphanet:254822	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:227976	"" []	571411	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal recessive optic atrophy, OPA7 type
Orphanet:98675	Orphanet:98676	\N	"" []	Orphanet:227976	"" []	571412	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	Autosomal recessive optic atrophy, OPA7 type
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:227976	"" []	1153607	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal recessive optic atrophy, OPA7 type
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:227976	"" []	1153608	\N	\N	EFO	3	EFO	Genetic optic atrophy	Autosomal recessive optic atrophy, OPA7 type
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:227976	"" []	2036155	\N	\N	EFO	4	EFO	Mitochondrial disease	Autosomal recessive optic atrophy, OPA7 type
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:227976	"" []	2036156	\N	\N	EFO	4	EFO	Optic neuropathy	Autosomal recessive optic atrophy, OPA7 type
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:227976	"" []	3186550	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Autosomal recessive optic atrophy, OPA7 type
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:227976	"" []	3186551	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Autosomal recessive optic atrophy, OPA7 type
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:227976	"" []	3186552	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive optic atrophy, OPA7 type
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:227976	"" []	4393901	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive optic atrophy, OPA7 type
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:227976	"" []	4393902	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Autosomal recessive optic atrophy, OPA7 type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:227976	"" []	4393903	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive optic atrophy, OPA7 type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:227976	"" []	4393904	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive optic atrophy, OPA7 type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:227976	"" []	5412247	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive optic atrophy, OPA7 type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:227976	"" []	5412248	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive optic atrophy, OPA7 type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:227976	"" []	5412249	\N	\N	EFO	7	EFO	metabolic disease	Autosomal recessive optic atrophy, OPA7 type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:227976	"" []	6149211	\N	\N	EFO	8	EFO	disease	Autosomal recessive optic atrophy, OPA7 type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:227976	"" []	5412251	\N	\N	EFO	7	EFO	disease	Autosomal recessive optic atrophy, OPA7 type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:227976	"" []	6149212	\N	\N	EFO	8	EFO	disease	Autosomal recessive optic atrophy, OPA7 type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:227976	"" []	6550821	\N	\N	EFO	9	EFO	disposition	Autosomal recessive optic atrophy, OPA7 type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:227976	"" []	6889133	\N	\N	EFO	10	EFO	material property	Autosomal recessive optic atrophy, OPA7 type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:227976	"" []	7085915	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive optic atrophy, OPA7 type
Orphanet:228000	\N	\N	"" []	Orphanet:228000	"" []	74734	\N	\N	EFO	0	EFO	Idiopathic CD4 lymphocytopenia	Idiopathic CD4 lymphocytopenia
Orphanet:183710	Orphanet:228000	\N	"" []	Orphanet:228000	"" []	216853	\N	\N	EFO	1	EFO	Genetic susceptibility to infections due to particular pathogens	Idiopathic CD4 lymphocytopenia
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:228000	"" []	571413	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Idiopathic CD4 lymphocytopenia
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:228000	"" []	1153609	\N	\N	EFO	3	EFO	Primary immunodeficiency	Idiopathic CD4 lymphocytopenia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:228000	"" []	2036157	\N	\N	EFO	4	EFO	Rare genetic immune disease	Idiopathic CD4 lymphocytopenia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228000	"" []	3186553	\N	\N	EFO	5	EFO	genetic disorder	Idiopathic CD4 lymphocytopenia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:228000	"" []	3186554	\N	\N	EFO	5	EFO	immune system disease	Idiopathic CD4 lymphocytopenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228000	"" []	4393905	\N	\N	EFO	6	EFO	disease	Idiopathic CD4 lymphocytopenia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228000	"" []	4393906	\N	\N	EFO	6	EFO	disease	Idiopathic CD4 lymphocytopenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228000	"" []	5412252	\N	\N	EFO	7	EFO	disposition	Idiopathic CD4 lymphocytopenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228000	"" []	6149214	\N	\N	EFO	8	EFO	material property	Idiopathic CD4 lymphocytopenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228000	"" []	6632534	\N	\N	EFO	9	EFO	experimental factor	Idiopathic CD4 lymphocytopenia
Orphanet:228003	\N	\N	"" []	Orphanet:228003	"" []	74735	\N	\N	EFO	0	EFO	Severe combined immunodeficiency due to CORO1A deficiency	Severe combined immunodeficiency due to CORO1A deficiency
Orphanet:317416	Orphanet:228003	\N	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	Orphanet:228003	"" []	216854	\N	\N	EFO	1	EFO	T-B+ severe combined immunodeficiency	Severe combined immunodeficiency due to CORO1A deficiency
Orphanet:183660	Orphanet:317416	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:228003	"" []	571414	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	Severe combined immunodeficiency due to CORO1A deficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:228003	"" []	1153610	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	Severe combined immunodeficiency due to CORO1A deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:228003	"" []	2036158	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Severe combined immunodeficiency due to CORO1A deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:228003	"" []	3186555	\N	\N	EFO	5	EFO	Primary immunodeficiency	Severe combined immunodeficiency due to CORO1A deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:228003	"" []	4393907	\N	\N	EFO	6	EFO	Rare genetic immune disease	Severe combined immunodeficiency due to CORO1A deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228003	"" []	5412253	\N	\N	EFO	7	EFO	genetic disorder	Severe combined immunodeficiency due to CORO1A deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:228003	"" []	5412254	\N	\N	EFO	7	EFO	immune system disease	Severe combined immunodeficiency due to CORO1A deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228003	"" []	6149215	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to CORO1A deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228003	"" []	6149216	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to CORO1A deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228003	"" []	6632535	\N	\N	EFO	9	EFO	disposition	Severe combined immunodeficiency due to CORO1A deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228003	"" []	6925553	\N	\N	EFO	10	EFO	material property	Severe combined immunodeficiency due to CORO1A deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228003	"" []	7099049	\N	\N	EFO	11	EFO	experimental factor	Severe combined immunodeficiency due to CORO1A deficiency
Orphanet:228012	\N	\N	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	74736	\N	\N	EFO	0	EFO	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Orphanet:101934	Orphanet:228012	\N	"" []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	216855	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Orphanet:217595	Orphanet:228012	\N	"" []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	216856	\N	\N	EFO	1	EFO	Syndrome associated with hypertrophic cardiomyopathy	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Orphanet:90642	Orphanet:228012	\N	"" []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	216857	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	571415	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	571416	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	571417	\N	\N	EFO	2	EFO	Rare genetic deafness	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	2036161	\N	\N	EFO	4	EFO	genetic disorder	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	2036162	\N	\N	EFO	4	EFO	heart disease	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	1153613	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	1153614	\N	\N	EFO	3	EFO	genetic disorder	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	1153615	\N	\N	EFO	3	EFO	auditory system disease	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	3000218	\N	\N	EFO	5	EFO	disease	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	3000219	\N	\N	EFO	5	EFO	cardiovascular disease	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	2036163	\N	\N	EFO	4	EFO	sensory system disease	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	5182032	\N	\N	EFO	7	EFO	disposition	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	4133563	\N	\N	EFO	6	EFO	disease	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	3186558	\N	\N	EFO	5	EFO	nervous system disease	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	5876998	\N	\N	EFO	8	EFO	material property	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	4393909	\N	\N	EFO	6	EFO	disease	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228012	"Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." []	6470204	\N	\N	EFO	9	EFO	experimental factor	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Orphanet:228140	\N	\N	"" []	Orphanet:228140	"" []	74737	\N	\N	EFO	0	EFO	Idiopathic ventricular fibrillation, not Brugada type	Idiopathic ventricular fibrillation, not Brugada type
Orphanet:101934	Orphanet:228140	\N	"" []	Orphanet:228140	"" []	216858	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Idiopathic ventricular fibrillation, not Brugada type
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:228140	"" []	571418	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Idiopathic ventricular fibrillation, not Brugada type
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228140	"" []	1153616	\N	\N	EFO	3	EFO	genetic disorder	Idiopathic ventricular fibrillation, not Brugada type
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:228140	"" []	1153617	\N	\N	EFO	3	EFO	heart disease	Idiopathic ventricular fibrillation, not Brugada type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228140	"" []	2036164	\N	\N	EFO	4	EFO	disease	Idiopathic ventricular fibrillation, not Brugada type
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:228140	"" []	2036165	\N	\N	EFO	4	EFO	cardiovascular disease	Idiopathic ventricular fibrillation, not Brugada type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228140	"" []	4393911	\N	\N	EFO	6	EFO	disposition	Idiopathic ventricular fibrillation, not Brugada type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228140	"" []	3186560	\N	\N	EFO	5	EFO	disease	Idiopathic ventricular fibrillation, not Brugada type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228140	"" []	5182033	\N	\N	EFO	7	EFO	material property	Idiopathic ventricular fibrillation, not Brugada type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228140	"" []	5997407	\N	\N	EFO	8	EFO	experimental factor	Idiopathic ventricular fibrillation, not Brugada type
Orphanet:228169	\N	\N	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	74738	\N	\N	EFO	0	EFO	Autosomal dominant striatal neurodegeneration	Autosomal dominant striatal neurodegeneration
Orphanet:307055	Orphanet:228169	\N	"" []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	216859	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Autosomal dominant striatal neurodegeneration
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	571419	\N	\N	EFO	2	EFO	neurodegenerative disease	Autosomal dominant striatal neurodegeneration
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	571420	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Autosomal dominant striatal neurodegeneration
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	1153618	\N	\N	EFO	3	EFO	nervous system disease	Autosomal dominant striatal neurodegeneration
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	1153619	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Autosomal dominant striatal neurodegeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	4393913	\N	\N	EFO	6	EFO	disease	Autosomal dominant striatal neurodegeneration
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	2036167	\N	\N	EFO	4	EFO	movement disorder	Autosomal dominant striatal neurodegeneration
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	2036168	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant striatal neurodegeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	5059770	\N	\N	EFO	7	EFO	disposition	Autosomal dominant striatal neurodegeneration
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	3186562	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant striatal neurodegeneration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	3186563	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant striatal neurodegeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	5876999	\N	\N	EFO	8	EFO	material property	Autosomal dominant striatal neurodegeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	4393914	\N	\N	EFO	6	EFO	disease	Autosomal dominant striatal neurodegeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228169	"Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." []	6470205	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant striatal neurodegeneration
Orphanet:228174	\N	\N	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	74739	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2N	Autosomal dominant Charcot-Marie-Tooth disease type 2N
Orphanet:64746	Orphanet:228174	\N	"" []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	216860	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2N
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	571421	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2N
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	571422	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2N
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	1153620	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2N
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	1153621	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2N
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	2036169	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2N
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	2036170	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2N
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	3186565	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2N
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	3186564	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2N
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	4133564	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2N
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	4393915	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2N
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	5182034	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2N
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	5412258	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2N
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	5997408	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2N
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	6550822	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2N
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228174	"Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." []	6889134	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2N
Orphanet:228179	\N	\N	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	74740	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2M	Autosomal dominant Charcot-Marie-Tooth disease type 2M
Orphanet:64746	Orphanet:228179	\N	"" []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	216861	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2M
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	571423	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2M
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	571424	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2M
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	1153622	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2M
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	1153623	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2M
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	2036172	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2M
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	2036173	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2M
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	3186568	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2M
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	3186567	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2M
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	4133565	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2M
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	4393917	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2M
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	5182035	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2M
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	5412260	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2M
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	5997409	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2M
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	6550823	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2M
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228179	"Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." []	6889135	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2M
Orphanet:228184	\N	\N	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	74741	\N	\N	EFO	0	EFO	Heart-hand syndrome	Heart-hand syndrome
Orphanet:404571	Orphanet:228184	\N	"" []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	216862	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Heart-hand syndrome
Orphanet:404577	Orphanet:228184	\N	"" []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	216863	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Heart-hand syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	571425	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Heart-hand syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	571426	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Heart-hand syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	1153624	\N	\N	EFO	3	EFO	Rare genetic bone disease	Heart-hand syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	1153625	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Heart-hand syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	1153626	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Heart-hand syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	2036175	\N	\N	EFO	4	EFO	genetic disorder	Heart-hand syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	2036176	\N	\N	EFO	4	EFO	bone disease	Heart-hand syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	2036177	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Heart-hand syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	3186572	\N	\N	EFO	5	EFO	genetic disorder	Heart-hand syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	4133566	\N	\N	EFO	6	EFO	disease	Heart-hand syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	3186571	\N	\N	EFO	5	EFO	skeletal system disease	Heart-hand syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	5182036	\N	\N	EFO	7	EFO	disposition	Heart-hand syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	4393920	\N	\N	EFO	6	EFO	disease	Heart-hand syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	5997410	\N	\N	EFO	8	EFO	material property	Heart-hand syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228184	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	6550824	\N	\N	EFO	9	EFO	experimental factor	Heart-hand syndrome
Orphanet:228190	\N	\N	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	74742	\N	\N	EFO	0	EFO	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Orphanet:156532	Orphanet:228190	\N	"" []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	216864	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Orphanet:228184	Orphanet:228190	\N	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	216865	\N	\N	EFO	1	EFO	Heart-hand syndrome	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	571427	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Orphanet:404571	Orphanet:228184	\N	"" []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	571428	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Orphanet:404577	Orphanet:228184	\N	"" []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	571429	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	1153627	\N	\N	EFO	3	EFO	genetic disorder	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	1153628	\N	\N	EFO	3	EFO	heart disease	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	1153629	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	1153630	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	5182038	\N	\N	EFO	7	EFO	disease	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	2036180	\N	\N	EFO	4	EFO	cardiovascular disease	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	2036181	\N	\N	EFO	4	EFO	Rare genetic bone disease	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	2036182	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	2036183	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	5817574	\N	\N	EFO	8	EFO	disposition	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	3186574	\N	\N	EFO	5	EFO	disease	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	3186575	\N	\N	EFO	5	EFO	genetic disorder	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	3186576	\N	\N	EFO	5	EFO	bone disease	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	3186577	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	4393925	\N	\N	EFO	6	EFO	genetic disorder	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	6409964	\N	\N	EFO	9	EFO	material property	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	4393924	\N	\N	EFO	6	EFO	skeletal system disease	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	6807806	\N	\N	EFO	10	EFO	experimental factor	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228190	"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." []	5412264	\N	\N	EFO	7	EFO	disease	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
Orphanet:2282	\N	\N	"" []	Orphanet:2282	"" []	74743	\N	\N	EFO	0	EFO	Dysmorphism - short stature - deafness - disorder of sex development	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:102283	Orphanet:2282	\N	"" []	Orphanet:2282	"" []	216866	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:183763	Orphanet:2282	\N	"" []	Orphanet:2282	"" []	216867	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:325638	Orphanet:2282	\N	"" []	Orphanet:2282	"" []	216868	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:98087	Orphanet:2282	\N	"" []	Orphanet:2282	"" []	216869	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2282	"" []	571430	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2282	"" []	571431	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:2282	"" []	571432	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:2282	"" []	571433	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2282	"" []	1153631	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2282	"" []	1153632	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:2282	"" []	1153633	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:2282	"" []	1153634	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Dysmorphism - short stature - deafness - disorder of sex development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2282	"" []	3186584	\N	\N	EFO	5	EFO	genetic disorder	Dysmorphism - short stature - deafness - disorder of sex development
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2282	"" []	2036185	\N	\N	EFO	4	EFO	genetic disorder	Dysmorphism - short stature - deafness - disorder of sex development
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2282	"" []	2036186	\N	\N	EFO	4	EFO	genetic disorder	Dysmorphism - short stature - deafness - disorder of sex development
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:2282	"" []	2036187	\N	\N	EFO	4	EFO	reproductive system disease	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:2282	"" []	2036188	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:2282	"" []	2036189	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:2282	"" []	2036190	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dysmorphism - short stature - deafness - disorder of sex development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2282	"" []	4133567	\N	\N	EFO	6	EFO	disease	Dysmorphism - short stature - deafness - disorder of sex development
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2282	"" []	3186580	\N	\N	EFO	5	EFO	disease	Dysmorphism - short stature - deafness - disorder of sex development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2282	"" []	3186581	\N	\N	EFO	5	EFO	genetic disorder	Dysmorphism - short stature - deafness - disorder of sex development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2282	"" []	3186582	\N	\N	EFO	5	EFO	genetic disorder	Dysmorphism - short stature - deafness - disorder of sex development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2282	"" []	3186583	\N	\N	EFO	5	EFO	endocrine system disease	Dysmorphism - short stature - deafness - disorder of sex development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2282	"" []	5182039	\N	\N	EFO	7	EFO	disposition	Dysmorphism - short stature - deafness - disorder of sex development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2282	"" []	4393927	\N	\N	EFO	6	EFO	disease	Dysmorphism - short stature - deafness - disorder of sex development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2282	"" []	5997412	\N	\N	EFO	8	EFO	material property	Dysmorphism - short stature - deafness - disorder of sex development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2282	"" []	6550825	\N	\N	EFO	9	EFO	experimental factor	Dysmorphism - short stature - deafness - disorder of sex development
Orphanet:228215	\N	\N	"" []	Orphanet:228215	"" []	74744	\N	\N	EFO	0	EFO	Genetic dermis elastic tissue disorder	Genetic dermis elastic tissue disorder
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:228215	"" []	216870	\N	\N	EFO	1	EFO	Genetic dermis disorder	Genetic dermis elastic tissue disorder
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:228215	"" []	571434	\N	\N	EFO	2	EFO	Rare genetic skin disease	Genetic dermis elastic tissue disorder
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228215	"" []	1153635	\N	\N	EFO	3	EFO	genetic disorder	Genetic dermis elastic tissue disorder
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:228215	"" []	1153636	\N	\N	EFO	3	EFO	skin disease	Genetic dermis elastic tissue disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228215	"" []	2036191	\N	\N	EFO	4	EFO	disease	Genetic dermis elastic tissue disorder
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228215	"" []	2036192	\N	\N	EFO	4	EFO	disease	Genetic dermis elastic tissue disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228215	"" []	3186585	\N	\N	EFO	5	EFO	disposition	Genetic dermis elastic tissue disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228215	"" []	4393928	\N	\N	EFO	6	EFO	material property	Genetic dermis elastic tissue disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228215	"" []	5412266	\N	\N	EFO	7	EFO	experimental factor	Genetic dermis elastic tissue disorder
Orphanet:228277	\N	\N	"" []	Orphanet:228277	"" []	74745	\N	\N	EFO	0	EFO	Familial anetoderma	Familial anetoderma
Orphanet:228215	Orphanet:228277	\N	"" []	Orphanet:228277	"" []	216871	\N	\N	EFO	1	EFO	Genetic dermis elastic tissue disorder	Familial anetoderma
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:228277	"" []	571435	\N	\N	EFO	2	EFO	Genetic dermis disorder	Familial anetoderma
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:228277	"" []	1153637	\N	\N	EFO	3	EFO	Rare genetic skin disease	Familial anetoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228277	"" []	2036193	\N	\N	EFO	4	EFO	genetic disorder	Familial anetoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:228277	"" []	2036194	\N	\N	EFO	4	EFO	skin disease	Familial anetoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228277	"" []	3186586	\N	\N	EFO	5	EFO	disease	Familial anetoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228277	"" []	3186587	\N	\N	EFO	5	EFO	disease	Familial anetoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228277	"" []	4393929	\N	\N	EFO	6	EFO	disposition	Familial anetoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228277	"" []	5412267	\N	\N	EFO	7	EFO	material property	Familial anetoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228277	"" []	6149221	\N	\N	EFO	8	EFO	experimental factor	Familial anetoderma
Orphanet:228302	\N	\N	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	74746	\N	\N	EFO	0	EFO	Carnitine palmitoyl transferase II deficiency, myopathic form	Carnitine palmitoyl transferase II deficiency, myopathic form
Orphanet:157	Orphanet:228302	\N	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	216872	\N	\N	EFO	1	EFO	Carnitine palmitoyltransferase II deficiency	Carnitine palmitoyl transferase II deficiency, myopathic form
Orphanet:206953	Orphanet:157	\N	"" []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	571436	\N	\N	EFO	2	EFO	Muscular lipidosis	Carnitine palmitoyl transferase II deficiency, myopathic form
Orphanet:309130	Orphanet:157	\N	"" []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	571437	\N	\N	EFO	2	EFO	Disorder of carnitine cycle and carnitine transport	Carnitine palmitoyl transferase II deficiency, myopathic form
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	1153638	\N	\N	EFO	3	EFO	Metabolic myopathy	Carnitine palmitoyl transferase II deficiency, myopathic form
Orphanet:79174	Orphanet:309130	\N	"" []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	1153639	\N	\N	EFO	3	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Carnitine palmitoyl transferase II deficiency, myopathic form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	2036195	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Carnitine palmitoyl transferase II deficiency, myopathic form
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	2036196	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Carnitine palmitoyl transferase II deficiency, myopathic form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	3186588	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Carnitine palmitoyl transferase II deficiency, myopathic form
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	3186589	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Carnitine palmitoyl transferase II deficiency, myopathic form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	4393930	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Carnitine palmitoyl transferase II deficiency, myopathic form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	4393931	\N	\N	EFO	6	EFO	genetic disorder	Carnitine palmitoyl transferase II deficiency, myopathic form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	4393932	\N	\N	EFO	6	EFO	metabolic disease	Carnitine palmitoyl transferase II deficiency, myopathic form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	5412268	\N	\N	EFO	7	EFO	muscular disease	Carnitine palmitoyl transferase II deficiency, myopathic form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	5412269	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Carnitine palmitoyl transferase II deficiency, myopathic form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	6632539	\N	\N	EFO	9	EFO	disease	Carnitine palmitoyl transferase II deficiency, myopathic form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	5412271	\N	\N	EFO	7	EFO	disease	Carnitine palmitoyl transferase II deficiency, myopathic form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	6149222	\N	\N	EFO	8	EFO	skeletal system disease	Carnitine palmitoyl transferase II deficiency, myopathic form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	6149223	\N	\N	EFO	8	EFO	genetic disorder	Carnitine palmitoyl transferase II deficiency, myopathic form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	6848408	\N	\N	EFO	10	EFO	disposition	Carnitine palmitoyl transferase II deficiency, myopathic form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	6632538	\N	\N	EFO	9	EFO	disease	Carnitine palmitoyl transferase II deficiency, myopathic form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	7068421	\N	\N	EFO	11	EFO	material property	Carnitine palmitoyl transferase II deficiency, myopathic form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228302	"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." []	7197160	\N	\N	EFO	12	EFO	experimental factor	Carnitine palmitoyl transferase II deficiency, myopathic form
Orphanet:228305	\N	\N	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	74747	\N	\N	EFO	0	EFO	Carnitine palmitoyl transferase II deficiency, severe infantile form	Carnitine palmitoyl transferase II deficiency, severe infantile form
Orphanet:157	Orphanet:228305	\N	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	216873	\N	\N	EFO	1	EFO	Carnitine palmitoyltransferase II deficiency	Carnitine palmitoyl transferase II deficiency, severe infantile form
Orphanet:206953	Orphanet:157	\N	"" []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	571438	\N	\N	EFO	2	EFO	Muscular lipidosis	Carnitine palmitoyl transferase II deficiency, severe infantile form
Orphanet:309130	Orphanet:157	\N	"" []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	571439	\N	\N	EFO	2	EFO	Disorder of carnitine cycle and carnitine transport	Carnitine palmitoyl transferase II deficiency, severe infantile form
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	1153640	\N	\N	EFO	3	EFO	Metabolic myopathy	Carnitine palmitoyl transferase II deficiency, severe infantile form
Orphanet:79174	Orphanet:309130	\N	"" []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	1153641	\N	\N	EFO	3	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Carnitine palmitoyl transferase II deficiency, severe infantile form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	2036197	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Carnitine palmitoyl transferase II deficiency, severe infantile form
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	2036198	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Carnitine palmitoyl transferase II deficiency, severe infantile form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	3186590	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Carnitine palmitoyl transferase II deficiency, severe infantile form
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	3186591	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Carnitine palmitoyl transferase II deficiency, severe infantile form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	4393933	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Carnitine palmitoyl transferase II deficiency, severe infantile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	4393934	\N	\N	EFO	6	EFO	genetic disorder	Carnitine palmitoyl transferase II deficiency, severe infantile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	4393935	\N	\N	EFO	6	EFO	metabolic disease	Carnitine palmitoyl transferase II deficiency, severe infantile form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	5412272	\N	\N	EFO	7	EFO	muscular disease	Carnitine palmitoyl transferase II deficiency, severe infantile form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	5412273	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Carnitine palmitoyl transferase II deficiency, severe infantile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	6632542	\N	\N	EFO	9	EFO	disease	Carnitine palmitoyl transferase II deficiency, severe infantile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	5412275	\N	\N	EFO	7	EFO	disease	Carnitine palmitoyl transferase II deficiency, severe infantile form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	6149225	\N	\N	EFO	8	EFO	skeletal system disease	Carnitine palmitoyl transferase II deficiency, severe infantile form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	6149226	\N	\N	EFO	8	EFO	genetic disorder	Carnitine palmitoyl transferase II deficiency, severe infantile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	6848409	\N	\N	EFO	10	EFO	disposition	Carnitine palmitoyl transferase II deficiency, severe infantile form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	6632541	\N	\N	EFO	9	EFO	disease	Carnitine palmitoyl transferase II deficiency, severe infantile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	7068422	\N	\N	EFO	11	EFO	material property	Carnitine palmitoyl transferase II deficiency, severe infantile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228305	"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." []	7197161	\N	\N	EFO	12	EFO	experimental factor	Carnitine palmitoyl transferase II deficiency, severe infantile form
Orphanet:228308	\N	\N	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	74748	\N	\N	EFO	0	EFO	Carnitine palmitoyl transferase II deficiency, neonatal form	Carnitine palmitoyl transferase II deficiency, neonatal form
Orphanet:157	Orphanet:228308	\N	"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	216874	\N	\N	EFO	1	EFO	Carnitine palmitoyltransferase II deficiency	Carnitine palmitoyl transferase II deficiency, neonatal form
Orphanet:206953	Orphanet:157	\N	"" []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	571440	\N	\N	EFO	2	EFO	Muscular lipidosis	Carnitine palmitoyl transferase II deficiency, neonatal form
Orphanet:309130	Orphanet:157	\N	"" []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	571441	\N	\N	EFO	2	EFO	Disorder of carnitine cycle and carnitine transport	Carnitine palmitoyl transferase II deficiency, neonatal form
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	1153642	\N	\N	EFO	3	EFO	Metabolic myopathy	Carnitine palmitoyl transferase II deficiency, neonatal form
Orphanet:79174	Orphanet:309130	\N	"" []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	1153643	\N	\N	EFO	3	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Carnitine palmitoyl transferase II deficiency, neonatal form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	2036199	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Carnitine palmitoyl transferase II deficiency, neonatal form
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	2036200	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Carnitine palmitoyl transferase II deficiency, neonatal form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	3186592	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Carnitine palmitoyl transferase II deficiency, neonatal form
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	3186593	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Carnitine palmitoyl transferase II deficiency, neonatal form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	4393936	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Carnitine palmitoyl transferase II deficiency, neonatal form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	4393937	\N	\N	EFO	6	EFO	genetic disorder	Carnitine palmitoyl transferase II deficiency, neonatal form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	4393938	\N	\N	EFO	6	EFO	metabolic disease	Carnitine palmitoyl transferase II deficiency, neonatal form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	5412276	\N	\N	EFO	7	EFO	muscular disease	Carnitine palmitoyl transferase II deficiency, neonatal form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	5412277	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Carnitine palmitoyl transferase II deficiency, neonatal form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	6632545	\N	\N	EFO	9	EFO	disease	Carnitine palmitoyl transferase II deficiency, neonatal form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	5412279	\N	\N	EFO	7	EFO	disease	Carnitine palmitoyl transferase II deficiency, neonatal form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	6149228	\N	\N	EFO	8	EFO	skeletal system disease	Carnitine palmitoyl transferase II deficiency, neonatal form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	6149229	\N	\N	EFO	8	EFO	genetic disorder	Carnitine palmitoyl transferase II deficiency, neonatal form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	6848410	\N	\N	EFO	10	EFO	disposition	Carnitine palmitoyl transferase II deficiency, neonatal form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	6632544	\N	\N	EFO	9	EFO	disease	Carnitine palmitoyl transferase II deficiency, neonatal form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	7068423	\N	\N	EFO	11	EFO	material property	Carnitine palmitoyl transferase II deficiency, neonatal form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228308	"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." []	7197162	\N	\N	EFO	12	EFO	experimental factor	Carnitine palmitoyl transferase II deficiency, neonatal form
Orphanet:228329	\N	\N	"" []	Orphanet:228329	"" []	74749	\N	\N	EFO	0	EFO	CLN1 disease	CLN1 disease
Orphanet:168491	Orphanet:228329	\N	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	Orphanet:228329	"" []	216875	\N	\N	EFO	1	EFO	Late infantile neuronal ceroid lipofuscinosis	CLN1 disease
Orphanet:79262	Orphanet:228329	\N	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	Orphanet:228329	"" []	216876	\N	\N	EFO	1	EFO	Adult neuronal ceroid lipofuscinosis	CLN1 disease
Orphanet:79263	Orphanet:228329	\N	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	Orphanet:228329	"" []	216877	\N	\N	EFO	1	EFO	Infantile neuronal ceroid lipofuscinosis	CLN1 disease
Orphanet:79264	Orphanet:228329	\N	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	Orphanet:228329	"" []	216878	\N	\N	EFO	1	EFO	Juvenile neuronal ceroid lipofuscinosis	CLN1 disease
Orphanet:216	Orphanet:168491	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228329	"" []	571442	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN1 disease
Orphanet:98261	Orphanet:168491	\N	"" []	Orphanet:228329	"" []	571443	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN1 disease
Orphanet:216	Orphanet:79262	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228329	"" []	571444	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN1 disease
Orphanet:98261	Orphanet:79262	\N	"" []	Orphanet:228329	"" []	571445	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN1 disease
Orphanet:216	Orphanet:79263	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228329	"" []	571446	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN1 disease
Orphanet:98261	Orphanet:79263	\N	"" []	Orphanet:228329	"" []	571447	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN1 disease
Orphanet:216	Orphanet:79264	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228329	"" []	571448	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN1 disease
Orphanet:98261	Orphanet:79264	\N	"" []	Orphanet:228329	"" []	571449	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN1 disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:228329	"" []	1153644	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN1 disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:228329	"" []	1153645	\N	\N	EFO	3	EFO	Lysosomal disease	CLN1 disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:228329	"" []	1153646	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN1 disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:228329	"" []	1153647	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN1 disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:228329	"" []	1153648	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN1 disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:228329	"" []	1153649	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN1 disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:228329	"" []	1153650	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN1 disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228329	"" []	2036201	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN1 disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:228329	"" []	2036202	\N	\N	EFO	4	EFO	brain disease	CLN1 disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:228329	"" []	2036203	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN1 disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:228329	"" []	2036204	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN1 disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:228329	"" []	2036205	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN1 disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:228329	"" []	2036206	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN1 disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:228329	"" []	2036207	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN1 disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:228329	"" []	2036208	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN1 disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:228329	"" []	2036209	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN1 disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228329	"" []	3186594	\N	\N	EFO	5	EFO	nervous system disease	CLN1 disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228329	"" []	3186595	\N	\N	EFO	5	EFO	nervous system disease	CLN1 disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228329	"" []	5412284	\N	\N	EFO	7	EFO	genetic disorder	CLN1 disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228329	"" []	3186597	\N	\N	EFO	5	EFO	genetic disorder	CLN1 disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228329	"" []	3186598	\N	\N	EFO	5	EFO	metabolic disease	CLN1 disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:228329	"" []	3186599	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN1 disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:228329	"" []	3186600	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN1 disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:228329	"" []	3186601	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN1 disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228329	"" []	4393939	\N	\N	EFO	6	EFO	disease	CLN1 disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228329	"" []	6470208	\N	\N	EFO	9	EFO	disease	CLN1 disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228329	"" []	4393941	\N	\N	EFO	6	EFO	disease	CLN1 disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:228329	"" []	4393942	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN1 disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228329	"" []	6149232	\N	\N	EFO	8	EFO	genetic disorder	CLN1 disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:228329	"" []	6149233	\N	\N	EFO	8	EFO	eye disease	CLN1 disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:228329	"" []	4393945	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN1 disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228329	"" []	6807807	\N	\N	EFO	10	EFO	disposition	CLN1 disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:228329	"" []	5412281	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN1 disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228329	"" []	6470209	\N	\N	EFO	9	EFO	disease	CLN1 disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228329	"" []	7048604	\N	\N	EFO	11	EFO	material property	CLN1 disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228329	"" []	7190201	\N	\N	EFO	12	EFO	experimental factor	CLN1 disease
Orphanet:228337	\N	\N	"" []	Orphanet:228337	"" []	74750	\N	\N	EFO	0	EFO	CLN10 disease	CLN10 disease
Orphanet:168486	Orphanet:228337	\N	"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." []	Orphanet:228337	"" []	216879	\N	\N	EFO	1	EFO	Congenital neuronal ceroid lipofuscinosis	CLN10 disease
Orphanet:168491	Orphanet:228337	\N	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	Orphanet:228337	"" []	216880	\N	\N	EFO	1	EFO	Late infantile neuronal ceroid lipofuscinosis	CLN10 disease
Orphanet:79262	Orphanet:228337	\N	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	Orphanet:228337	"" []	216881	\N	\N	EFO	1	EFO	Adult neuronal ceroid lipofuscinosis	CLN10 disease
Orphanet:79264	Orphanet:228337	\N	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	Orphanet:228337	"" []	216882	\N	\N	EFO	1	EFO	Juvenile neuronal ceroid lipofuscinosis	CLN10 disease
Orphanet:216	Orphanet:168486	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228337	"" []	571450	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN10 disease
Orphanet:98261	Orphanet:168486	\N	"" []	Orphanet:228337	"" []	571451	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN10 disease
Orphanet:216	Orphanet:168491	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228337	"" []	571452	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN10 disease
Orphanet:98261	Orphanet:168491	\N	"" []	Orphanet:228337	"" []	571453	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN10 disease
Orphanet:216	Orphanet:79262	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228337	"" []	571454	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN10 disease
Orphanet:98261	Orphanet:79262	\N	"" []	Orphanet:228337	"" []	571455	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN10 disease
Orphanet:216	Orphanet:79264	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228337	"" []	571456	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN10 disease
Orphanet:98261	Orphanet:79264	\N	"" []	Orphanet:228337	"" []	571457	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN10 disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:228337	"" []	1153651	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN10 disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:228337	"" []	1153652	\N	\N	EFO	3	EFO	Lysosomal disease	CLN10 disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:228337	"" []	1153653	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN10 disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:228337	"" []	1153654	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN10 disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:228337	"" []	1153655	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN10 disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:228337	"" []	1153656	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN10 disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:228337	"" []	1153657	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN10 disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228337	"" []	2036210	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN10 disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:228337	"" []	2036211	\N	\N	EFO	4	EFO	brain disease	CLN10 disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:228337	"" []	2036212	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN10 disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:228337	"" []	2036213	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN10 disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:228337	"" []	2036214	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN10 disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:228337	"" []	2036215	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN10 disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:228337	"" []	2036216	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN10 disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:228337	"" []	2036217	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN10 disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:228337	"" []	2036218	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN10 disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228337	"" []	3186602	\N	\N	EFO	5	EFO	nervous system disease	CLN10 disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228337	"" []	3186603	\N	\N	EFO	5	EFO	nervous system disease	CLN10 disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228337	"" []	5412289	\N	\N	EFO	7	EFO	genetic disorder	CLN10 disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228337	"" []	3186605	\N	\N	EFO	5	EFO	genetic disorder	CLN10 disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228337	"" []	3186606	\N	\N	EFO	5	EFO	metabolic disease	CLN10 disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:228337	"" []	3186607	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN10 disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:228337	"" []	3186608	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN10 disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:228337	"" []	3186609	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN10 disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228337	"" []	4393946	\N	\N	EFO	6	EFO	disease	CLN10 disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228337	"" []	6470211	\N	\N	EFO	9	EFO	disease	CLN10 disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228337	"" []	4393948	\N	\N	EFO	6	EFO	disease	CLN10 disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:228337	"" []	4393949	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN10 disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228337	"" []	6149235	\N	\N	EFO	8	EFO	genetic disorder	CLN10 disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:228337	"" []	6149236	\N	\N	EFO	8	EFO	eye disease	CLN10 disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:228337	"" []	4393952	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN10 disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228337	"" []	6807808	\N	\N	EFO	10	EFO	disposition	CLN10 disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:228337	"" []	5412286	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN10 disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228337	"" []	6470212	\N	\N	EFO	9	EFO	disease	CLN10 disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228337	"" []	7048605	\N	\N	EFO	11	EFO	material property	CLN10 disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228337	"" []	7190202	\N	\N	EFO	12	EFO	experimental factor	CLN10 disease
Orphanet:228340	\N	\N	"" []	Orphanet:228340	"" []	74751	\N	\N	EFO	0	EFO	CLN4A disease	CLN4A disease
Orphanet:79262	Orphanet:228340	\N	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	Orphanet:228340	"" []	216883	\N	\N	EFO	1	EFO	Adult neuronal ceroid lipofuscinosis	CLN4A disease
Orphanet:216	Orphanet:79262	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228340	"" []	571458	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN4A disease
Orphanet:98261	Orphanet:79262	\N	"" []	Orphanet:228340	"" []	571459	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN4A disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:228340	"" []	1153658	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN4A disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:228340	"" []	1153659	\N	\N	EFO	3	EFO	Lysosomal disease	CLN4A disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:228340	"" []	1153660	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN4A disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:228340	"" []	1153661	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN4A disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:228340	"" []	1153662	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN4A disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:228340	"" []	1153663	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN4A disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:228340	"" []	1153664	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN4A disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228340	"" []	2036219	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN4A disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:228340	"" []	2036220	\N	\N	EFO	4	EFO	brain disease	CLN4A disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:228340	"" []	2036221	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN4A disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:228340	"" []	2036222	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN4A disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:228340	"" []	2036223	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN4A disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:228340	"" []	2036224	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN4A disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:228340	"" []	2036225	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN4A disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:228340	"" []	2036226	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN4A disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:228340	"" []	2036227	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN4A disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228340	"" []	3186610	\N	\N	EFO	5	EFO	nervous system disease	CLN4A disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228340	"" []	3186611	\N	\N	EFO	5	EFO	nervous system disease	CLN4A disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228340	"" []	5412294	\N	\N	EFO	7	EFO	genetic disorder	CLN4A disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228340	"" []	3186613	\N	\N	EFO	5	EFO	genetic disorder	CLN4A disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228340	"" []	3186614	\N	\N	EFO	5	EFO	metabolic disease	CLN4A disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:228340	"" []	3186615	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN4A disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:228340	"" []	3186616	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN4A disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:228340	"" []	3186617	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN4A disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228340	"" []	4393953	\N	\N	EFO	6	EFO	disease	CLN4A disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228340	"" []	6470214	\N	\N	EFO	9	EFO	disease	CLN4A disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228340	"" []	4393955	\N	\N	EFO	6	EFO	disease	CLN4A disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:228340	"" []	4393956	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN4A disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228340	"" []	6149238	\N	\N	EFO	8	EFO	genetic disorder	CLN4A disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:228340	"" []	6149239	\N	\N	EFO	8	EFO	eye disease	CLN4A disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:228340	"" []	4393959	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN4A disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228340	"" []	6807809	\N	\N	EFO	10	EFO	disposition	CLN4A disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:228340	"" []	5412291	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN4A disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228340	"" []	6470215	\N	\N	EFO	9	EFO	disease	CLN4A disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228340	"" []	7048606	\N	\N	EFO	11	EFO	material property	CLN4A disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228340	"" []	7190203	\N	\N	EFO	12	EFO	experimental factor	CLN4A disease
Orphanet:228343	\N	\N	"" []	Orphanet:228343	"" []	74752	\N	\N	EFO	0	EFO	CLN4B disease	CLN4B disease
Orphanet:79262	Orphanet:228343	\N	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	Orphanet:228343	"" []	216884	\N	\N	EFO	1	EFO	Adult neuronal ceroid lipofuscinosis	CLN4B disease
Orphanet:216	Orphanet:79262	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228343	"" []	571460	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN4B disease
Orphanet:98261	Orphanet:79262	\N	"" []	Orphanet:228343	"" []	571461	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN4B disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:228343	"" []	1153665	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN4B disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:228343	"" []	1153666	\N	\N	EFO	3	EFO	Lysosomal disease	CLN4B disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:228343	"" []	1153667	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN4B disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:228343	"" []	1153668	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN4B disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:228343	"" []	1153669	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN4B disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:228343	"" []	1153670	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN4B disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:228343	"" []	1153671	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN4B disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228343	"" []	2036228	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN4B disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:228343	"" []	2036229	\N	\N	EFO	4	EFO	brain disease	CLN4B disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:228343	"" []	2036230	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN4B disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:228343	"" []	2036231	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN4B disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:228343	"" []	2036232	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN4B disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:228343	"" []	2036233	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN4B disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:228343	"" []	2036234	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN4B disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:228343	"" []	2036235	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN4B disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:228343	"" []	2036236	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN4B disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228343	"" []	3186618	\N	\N	EFO	5	EFO	nervous system disease	CLN4B disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228343	"" []	3186619	\N	\N	EFO	5	EFO	nervous system disease	CLN4B disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228343	"" []	5412299	\N	\N	EFO	7	EFO	genetic disorder	CLN4B disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228343	"" []	3186621	\N	\N	EFO	5	EFO	genetic disorder	CLN4B disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228343	"" []	3186622	\N	\N	EFO	5	EFO	metabolic disease	CLN4B disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:228343	"" []	3186623	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN4B disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:228343	"" []	3186624	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN4B disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:228343	"" []	3186625	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN4B disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228343	"" []	4393960	\N	\N	EFO	6	EFO	disease	CLN4B disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228343	"" []	6470217	\N	\N	EFO	9	EFO	disease	CLN4B disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228343	"" []	4393962	\N	\N	EFO	6	EFO	disease	CLN4B disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:228343	"" []	4393963	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN4B disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228343	"" []	6149241	\N	\N	EFO	8	EFO	genetic disorder	CLN4B disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:228343	"" []	6149242	\N	\N	EFO	8	EFO	eye disease	CLN4B disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:228343	"" []	4393966	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN4B disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228343	"" []	6807810	\N	\N	EFO	10	EFO	disposition	CLN4B disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:228343	"" []	5412296	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN4B disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228343	"" []	6470218	\N	\N	EFO	9	EFO	disease	CLN4B disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228343	"" []	7048607	\N	\N	EFO	11	EFO	material property	CLN4B disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228343	"" []	7190204	\N	\N	EFO	12	EFO	experimental factor	CLN4B disease
Orphanet:228346	\N	\N	"" []	Orphanet:228346	"" []	74753	\N	\N	EFO	0	EFO	CLN3 disease	CLN3 disease
Orphanet:79264	Orphanet:228346	\N	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	Orphanet:228346	"" []	216885	\N	\N	EFO	1	EFO	Juvenile neuronal ceroid lipofuscinosis	CLN3 disease
Orphanet:216	Orphanet:79264	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228346	"" []	571462	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN3 disease
Orphanet:98261	Orphanet:79264	\N	"" []	Orphanet:228346	"" []	571463	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN3 disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:228346	"" []	1153672	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN3 disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:228346	"" []	1153673	\N	\N	EFO	3	EFO	Lysosomal disease	CLN3 disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:228346	"" []	1153674	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN3 disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:228346	"" []	1153675	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN3 disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:228346	"" []	1153676	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN3 disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:228346	"" []	1153677	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN3 disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:228346	"" []	1153678	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN3 disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228346	"" []	2036237	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN3 disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:228346	"" []	2036238	\N	\N	EFO	4	EFO	brain disease	CLN3 disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:228346	"" []	2036239	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN3 disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:228346	"" []	2036240	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN3 disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:228346	"" []	2036241	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN3 disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:228346	"" []	2036242	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN3 disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:228346	"" []	2036243	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN3 disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:228346	"" []	2036244	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN3 disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:228346	"" []	2036245	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN3 disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228346	"" []	3186626	\N	\N	EFO	5	EFO	nervous system disease	CLN3 disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228346	"" []	3186627	\N	\N	EFO	5	EFO	nervous system disease	CLN3 disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228346	"" []	5412304	\N	\N	EFO	7	EFO	genetic disorder	CLN3 disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228346	"" []	3186629	\N	\N	EFO	5	EFO	genetic disorder	CLN3 disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228346	"" []	3186630	\N	\N	EFO	5	EFO	metabolic disease	CLN3 disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:228346	"" []	3186631	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN3 disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:228346	"" []	3186632	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN3 disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:228346	"" []	3186633	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN3 disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228346	"" []	4393967	\N	\N	EFO	6	EFO	disease	CLN3 disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228346	"" []	6470220	\N	\N	EFO	9	EFO	disease	CLN3 disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228346	"" []	4393969	\N	\N	EFO	6	EFO	disease	CLN3 disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:228346	"" []	4393970	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN3 disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228346	"" []	6149244	\N	\N	EFO	8	EFO	genetic disorder	CLN3 disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:228346	"" []	6149245	\N	\N	EFO	8	EFO	eye disease	CLN3 disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:228346	"" []	4393973	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN3 disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228346	"" []	6807811	\N	\N	EFO	10	EFO	disposition	CLN3 disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:228346	"" []	5412301	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN3 disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228346	"" []	6470221	\N	\N	EFO	9	EFO	disease	CLN3 disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228346	"" []	7048608	\N	\N	EFO	11	EFO	material property	CLN3 disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228346	"" []	7190205	\N	\N	EFO	12	EFO	experimental factor	CLN3 disease
Orphanet:228349	\N	\N	"" []	Orphanet:228349	"" []	74754	\N	\N	EFO	0	EFO	CLN2 disease	CLN2 disease
Orphanet:168491	Orphanet:228349	\N	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	Orphanet:228349	"" []	216886	\N	\N	EFO	1	EFO	Late infantile neuronal ceroid lipofuscinosis	CLN2 disease
Orphanet:79264	Orphanet:228349	\N	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	Orphanet:228349	"" []	216887	\N	\N	EFO	1	EFO	Juvenile neuronal ceroid lipofuscinosis	CLN2 disease
Orphanet:216	Orphanet:168491	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228349	"" []	571464	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN2 disease
Orphanet:98261	Orphanet:168491	\N	"" []	Orphanet:228349	"" []	571465	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN2 disease
Orphanet:216	Orphanet:79264	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228349	"" []	571466	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN2 disease
Orphanet:98261	Orphanet:79264	\N	"" []	Orphanet:228349	"" []	571467	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN2 disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:228349	"" []	1153679	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN2 disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:228349	"" []	1153680	\N	\N	EFO	3	EFO	Lysosomal disease	CLN2 disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:228349	"" []	1153681	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN2 disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:228349	"" []	1153682	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN2 disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:228349	"" []	1153683	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN2 disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:228349	"" []	1153684	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN2 disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:228349	"" []	1153685	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN2 disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228349	"" []	2036246	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN2 disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:228349	"" []	2036247	\N	\N	EFO	4	EFO	brain disease	CLN2 disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:228349	"" []	2036248	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN2 disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:228349	"" []	2036249	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN2 disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:228349	"" []	2036250	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN2 disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:228349	"" []	2036251	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN2 disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:228349	"" []	2036252	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN2 disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:228349	"" []	2036253	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN2 disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:228349	"" []	2036254	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN2 disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228349	"" []	3186634	\N	\N	EFO	5	EFO	nervous system disease	CLN2 disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228349	"" []	3186635	\N	\N	EFO	5	EFO	nervous system disease	CLN2 disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228349	"" []	5412309	\N	\N	EFO	7	EFO	genetic disorder	CLN2 disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228349	"" []	3186637	\N	\N	EFO	5	EFO	genetic disorder	CLN2 disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228349	"" []	3186638	\N	\N	EFO	5	EFO	metabolic disease	CLN2 disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:228349	"" []	3186639	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN2 disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:228349	"" []	3186640	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN2 disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:228349	"" []	3186641	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN2 disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228349	"" []	4393974	\N	\N	EFO	6	EFO	disease	CLN2 disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228349	"" []	6470223	\N	\N	EFO	9	EFO	disease	CLN2 disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228349	"" []	4393976	\N	\N	EFO	6	EFO	disease	CLN2 disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:228349	"" []	4393977	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN2 disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228349	"" []	6149247	\N	\N	EFO	8	EFO	genetic disorder	CLN2 disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:228349	"" []	6149248	\N	\N	EFO	8	EFO	eye disease	CLN2 disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:228349	"" []	4393980	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN2 disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228349	"" []	6807812	\N	\N	EFO	10	EFO	disposition	CLN2 disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:228349	"" []	5412306	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN2 disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228349	"" []	6470224	\N	\N	EFO	9	EFO	disease	CLN2 disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228349	"" []	7048609	\N	\N	EFO	11	EFO	material property	CLN2 disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228349	"" []	7190206	\N	\N	EFO	12	EFO	experimental factor	CLN2 disease
Orphanet:228354	\N	\N	"" []	Orphanet:228354	"" []	74755	\N	\N	EFO	0	EFO	CLN8 disease	CLN8 disease
Orphanet:168491	Orphanet:228354	\N	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	Orphanet:228354	"" []	216888	\N	\N	EFO	1	EFO	Late infantile neuronal ceroid lipofuscinosis	CLN8 disease
Orphanet:79264	Orphanet:228354	\N	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	Orphanet:228354	"" []	216889	\N	\N	EFO	1	EFO	Juvenile neuronal ceroid lipofuscinosis	CLN8 disease
Orphanet:216	Orphanet:168491	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228354	"" []	571468	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN8 disease
Orphanet:98261	Orphanet:168491	\N	"" []	Orphanet:228354	"" []	571469	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN8 disease
Orphanet:216	Orphanet:79264	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228354	"" []	571470	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN8 disease
Orphanet:98261	Orphanet:79264	\N	"" []	Orphanet:228354	"" []	571471	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN8 disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:228354	"" []	1153686	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN8 disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:228354	"" []	1153687	\N	\N	EFO	3	EFO	Lysosomal disease	CLN8 disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:228354	"" []	1153688	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN8 disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:228354	"" []	1153689	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN8 disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:228354	"" []	1153690	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN8 disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:228354	"" []	1153691	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN8 disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:228354	"" []	1153692	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN8 disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228354	"" []	2036255	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN8 disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:228354	"" []	2036256	\N	\N	EFO	4	EFO	brain disease	CLN8 disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:228354	"" []	2036257	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN8 disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:228354	"" []	2036258	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN8 disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:228354	"" []	2036259	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN8 disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:228354	"" []	2036260	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN8 disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:228354	"" []	2036261	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN8 disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:228354	"" []	2036262	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN8 disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:228354	"" []	2036263	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN8 disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228354	"" []	3186642	\N	\N	EFO	5	EFO	nervous system disease	CLN8 disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228354	"" []	3186643	\N	\N	EFO	5	EFO	nervous system disease	CLN8 disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228354	"" []	5412314	\N	\N	EFO	7	EFO	genetic disorder	CLN8 disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228354	"" []	3186645	\N	\N	EFO	5	EFO	genetic disorder	CLN8 disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228354	"" []	3186646	\N	\N	EFO	5	EFO	metabolic disease	CLN8 disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:228354	"" []	3186647	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN8 disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:228354	"" []	3186648	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN8 disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:228354	"" []	3186649	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN8 disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228354	"" []	4393981	\N	\N	EFO	6	EFO	disease	CLN8 disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228354	"" []	6470226	\N	\N	EFO	9	EFO	disease	CLN8 disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228354	"" []	4393983	\N	\N	EFO	6	EFO	disease	CLN8 disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:228354	"" []	4393984	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN8 disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228354	"" []	6149250	\N	\N	EFO	8	EFO	genetic disorder	CLN8 disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:228354	"" []	6149251	\N	\N	EFO	8	EFO	eye disease	CLN8 disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:228354	"" []	4393987	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN8 disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228354	"" []	6807813	\N	\N	EFO	10	EFO	disposition	CLN8 disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:228354	"" []	5412311	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN8 disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228354	"" []	6470227	\N	\N	EFO	9	EFO	disease	CLN8 disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228354	"" []	7048610	\N	\N	EFO	11	EFO	material property	CLN8 disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228354	"" []	7190207	\N	\N	EFO	12	EFO	experimental factor	CLN8 disease
Orphanet:228357	\N	\N	"" []	Orphanet:228357	"" []	74756	\N	\N	EFO	0	EFO	CLN9 disease	CLN9 disease
Orphanet:79264	Orphanet:228357	\N	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	Orphanet:228357	"" []	216890	\N	\N	EFO	1	EFO	Juvenile neuronal ceroid lipofuscinosis	CLN9 disease
Orphanet:216	Orphanet:79264	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228357	"" []	571472	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN9 disease
Orphanet:98261	Orphanet:79264	\N	"" []	Orphanet:228357	"" []	571473	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN9 disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:228357	"" []	1153693	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN9 disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:228357	"" []	1153694	\N	\N	EFO	3	EFO	Lysosomal disease	CLN9 disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:228357	"" []	1153695	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN9 disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:228357	"" []	1153696	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN9 disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:228357	"" []	1153697	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN9 disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:228357	"" []	1153698	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN9 disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:228357	"" []	1153699	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN9 disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228357	"" []	2036264	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN9 disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:228357	"" []	2036265	\N	\N	EFO	4	EFO	brain disease	CLN9 disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:228357	"" []	2036266	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN9 disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:228357	"" []	2036267	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN9 disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:228357	"" []	2036268	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN9 disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:228357	"" []	2036269	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN9 disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:228357	"" []	2036270	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN9 disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:228357	"" []	2036271	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN9 disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:228357	"" []	2036272	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN9 disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228357	"" []	3186650	\N	\N	EFO	5	EFO	nervous system disease	CLN9 disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228357	"" []	3186651	\N	\N	EFO	5	EFO	nervous system disease	CLN9 disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228357	"" []	5412319	\N	\N	EFO	7	EFO	genetic disorder	CLN9 disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228357	"" []	3186653	\N	\N	EFO	5	EFO	genetic disorder	CLN9 disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228357	"" []	3186654	\N	\N	EFO	5	EFO	metabolic disease	CLN9 disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:228357	"" []	3186655	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN9 disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:228357	"" []	3186656	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN9 disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:228357	"" []	3186657	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN9 disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228357	"" []	4393988	\N	\N	EFO	6	EFO	disease	CLN9 disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228357	"" []	6470229	\N	\N	EFO	9	EFO	disease	CLN9 disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228357	"" []	4393990	\N	\N	EFO	6	EFO	disease	CLN9 disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:228357	"" []	4393991	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN9 disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228357	"" []	6149253	\N	\N	EFO	8	EFO	genetic disorder	CLN9 disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:228357	"" []	6149254	\N	\N	EFO	8	EFO	eye disease	CLN9 disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:228357	"" []	4393994	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN9 disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228357	"" []	6807814	\N	\N	EFO	10	EFO	disposition	CLN9 disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:228357	"" []	5412316	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN9 disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228357	"" []	6470230	\N	\N	EFO	9	EFO	disease	CLN9 disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228357	"" []	7048611	\N	\N	EFO	11	EFO	material property	CLN9 disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228357	"" []	7190208	\N	\N	EFO	12	EFO	experimental factor	CLN9 disease
Orphanet:228360	\N	\N	"" []	Orphanet:228360	"" []	74757	\N	\N	EFO	0	EFO	CLN5 disease	CLN5 disease
Orphanet:168491	Orphanet:228360	\N	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	Orphanet:228360	"" []	216891	\N	\N	EFO	1	EFO	Late infantile neuronal ceroid lipofuscinosis	CLN5 disease
Orphanet:216	Orphanet:168491	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228360	"" []	571474	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN5 disease
Orphanet:98261	Orphanet:168491	\N	"" []	Orphanet:228360	"" []	571475	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN5 disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:228360	"" []	1153700	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN5 disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:228360	"" []	1153701	\N	\N	EFO	3	EFO	Lysosomal disease	CLN5 disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:228360	"" []	1153702	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN5 disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:228360	"" []	1153703	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN5 disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:228360	"" []	1153704	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN5 disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:228360	"" []	1153705	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN5 disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:228360	"" []	1153706	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN5 disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228360	"" []	2036273	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN5 disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:228360	"" []	2036274	\N	\N	EFO	4	EFO	brain disease	CLN5 disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:228360	"" []	2036275	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN5 disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:228360	"" []	2036276	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN5 disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:228360	"" []	2036277	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN5 disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:228360	"" []	2036278	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN5 disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:228360	"" []	2036279	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN5 disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:228360	"" []	2036280	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN5 disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:228360	"" []	2036281	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN5 disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228360	"" []	3186658	\N	\N	EFO	5	EFO	nervous system disease	CLN5 disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228360	"" []	3186659	\N	\N	EFO	5	EFO	nervous system disease	CLN5 disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228360	"" []	5412324	\N	\N	EFO	7	EFO	genetic disorder	CLN5 disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228360	"" []	3186661	\N	\N	EFO	5	EFO	genetic disorder	CLN5 disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228360	"" []	3186662	\N	\N	EFO	5	EFO	metabolic disease	CLN5 disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:228360	"" []	3186663	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN5 disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:228360	"" []	3186664	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN5 disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:228360	"" []	3186665	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN5 disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228360	"" []	4393995	\N	\N	EFO	6	EFO	disease	CLN5 disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228360	"" []	6470232	\N	\N	EFO	9	EFO	disease	CLN5 disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228360	"" []	4393997	\N	\N	EFO	6	EFO	disease	CLN5 disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:228360	"" []	4393998	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN5 disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228360	"" []	6149256	\N	\N	EFO	8	EFO	genetic disorder	CLN5 disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:228360	"" []	6149257	\N	\N	EFO	8	EFO	eye disease	CLN5 disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:228360	"" []	4394001	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN5 disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228360	"" []	6807815	\N	\N	EFO	10	EFO	disposition	CLN5 disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:228360	"" []	5412321	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN5 disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228360	"" []	6470233	\N	\N	EFO	9	EFO	disease	CLN5 disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228360	"" []	7048612	\N	\N	EFO	11	EFO	material property	CLN5 disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228360	"" []	7190209	\N	\N	EFO	12	EFO	experimental factor	CLN5 disease
Orphanet:228363	\N	\N	"" []	Orphanet:228363	"" []	74758	\N	\N	EFO	0	EFO	CLN6 disease	CLN6 disease
Orphanet:168491	Orphanet:228363	\N	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	Orphanet:228363	"" []	216892	\N	\N	EFO	1	EFO	Late infantile neuronal ceroid lipofuscinosis	CLN6 disease
Orphanet:79262	Orphanet:228363	\N	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	Orphanet:228363	"" []	216893	\N	\N	EFO	1	EFO	Adult neuronal ceroid lipofuscinosis	CLN6 disease
Orphanet:216	Orphanet:168491	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228363	"" []	571476	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN6 disease
Orphanet:98261	Orphanet:168491	\N	"" []	Orphanet:228363	"" []	571477	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN6 disease
Orphanet:216	Orphanet:79262	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228363	"" []	571478	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN6 disease
Orphanet:98261	Orphanet:79262	\N	"" []	Orphanet:228363	"" []	571479	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN6 disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:228363	"" []	1153707	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN6 disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:228363	"" []	1153708	\N	\N	EFO	3	EFO	Lysosomal disease	CLN6 disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:228363	"" []	1153709	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN6 disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:228363	"" []	1153710	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN6 disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:228363	"" []	1153711	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN6 disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:228363	"" []	1153712	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN6 disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:228363	"" []	1153713	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN6 disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228363	"" []	2036282	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN6 disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:228363	"" []	2036283	\N	\N	EFO	4	EFO	brain disease	CLN6 disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:228363	"" []	2036284	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN6 disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:228363	"" []	2036285	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN6 disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:228363	"" []	2036286	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN6 disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:228363	"" []	2036287	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN6 disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:228363	"" []	2036288	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN6 disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:228363	"" []	2036289	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN6 disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:228363	"" []	2036290	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN6 disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228363	"" []	3186666	\N	\N	EFO	5	EFO	nervous system disease	CLN6 disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228363	"" []	3186667	\N	\N	EFO	5	EFO	nervous system disease	CLN6 disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228363	"" []	5412329	\N	\N	EFO	7	EFO	genetic disorder	CLN6 disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228363	"" []	3186669	\N	\N	EFO	5	EFO	genetic disorder	CLN6 disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228363	"" []	3186670	\N	\N	EFO	5	EFO	metabolic disease	CLN6 disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:228363	"" []	3186671	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN6 disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:228363	"" []	3186672	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN6 disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:228363	"" []	3186673	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN6 disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228363	"" []	4394002	\N	\N	EFO	6	EFO	disease	CLN6 disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228363	"" []	6470235	\N	\N	EFO	9	EFO	disease	CLN6 disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228363	"" []	4394004	\N	\N	EFO	6	EFO	disease	CLN6 disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:228363	"" []	4394005	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN6 disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228363	"" []	6149259	\N	\N	EFO	8	EFO	genetic disorder	CLN6 disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:228363	"" []	6149260	\N	\N	EFO	8	EFO	eye disease	CLN6 disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:228363	"" []	4394008	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN6 disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228363	"" []	6807816	\N	\N	EFO	10	EFO	disposition	CLN6 disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:228363	"" []	5412326	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN6 disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228363	"" []	6470236	\N	\N	EFO	9	EFO	disease	CLN6 disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228363	"" []	7048613	\N	\N	EFO	11	EFO	material property	CLN6 disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228363	"" []	7190210	\N	\N	EFO	12	EFO	experimental factor	CLN6 disease
Orphanet:228366	\N	\N	"" []	Orphanet:228366	"" []	74759	\N	\N	EFO	0	EFO	CLN7 disease	CLN7 disease
Orphanet:168491	Orphanet:228366	\N	"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." []	Orphanet:228366	"" []	216894	\N	\N	EFO	1	EFO	Late infantile neuronal ceroid lipofuscinosis	CLN7 disease
Orphanet:216	Orphanet:168491	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:228366	"" []	571480	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN7 disease
Orphanet:98261	Orphanet:168491	\N	"" []	Orphanet:228366	"" []	571481	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN7 disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:228366	"" []	1153714	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN7 disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:228366	"" []	1153715	\N	\N	EFO	3	EFO	Lysosomal disease	CLN7 disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:228366	"" []	1153716	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN7 disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:228366	"" []	1153717	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN7 disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:228366	"" []	1153718	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN7 disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:228366	"" []	1153719	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN7 disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:228366	"" []	1153720	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN7 disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228366	"" []	2036291	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN7 disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:228366	"" []	2036292	\N	\N	EFO	4	EFO	brain disease	CLN7 disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:228366	"" []	2036293	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN7 disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:228366	"" []	2036294	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN7 disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:228366	"" []	2036295	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN7 disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:228366	"" []	2036296	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN7 disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:228366	"" []	2036297	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN7 disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:228366	"" []	2036298	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN7 disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:228366	"" []	2036299	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN7 disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228366	"" []	3186674	\N	\N	EFO	5	EFO	nervous system disease	CLN7 disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228366	"" []	3186675	\N	\N	EFO	5	EFO	nervous system disease	CLN7 disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228366	"" []	5412334	\N	\N	EFO	7	EFO	genetic disorder	CLN7 disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228366	"" []	3186677	\N	\N	EFO	5	EFO	genetic disorder	CLN7 disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228366	"" []	3186678	\N	\N	EFO	5	EFO	metabolic disease	CLN7 disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:228366	"" []	3186679	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN7 disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:228366	"" []	3186680	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN7 disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:228366	"" []	3186681	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN7 disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228366	"" []	4394009	\N	\N	EFO	6	EFO	disease	CLN7 disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228366	"" []	6470238	\N	\N	EFO	9	EFO	disease	CLN7 disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228366	"" []	4394011	\N	\N	EFO	6	EFO	disease	CLN7 disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:228366	"" []	4394012	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN7 disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228366	"" []	6149262	\N	\N	EFO	8	EFO	genetic disorder	CLN7 disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:228366	"" []	6149263	\N	\N	EFO	8	EFO	eye disease	CLN7 disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:228366	"" []	4394015	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN7 disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228366	"" []	6807817	\N	\N	EFO	10	EFO	disposition	CLN7 disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:228366	"" []	5412331	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN7 disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228366	"" []	6470239	\N	\N	EFO	9	EFO	disease	CLN7 disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228366	"" []	7048614	\N	\N	EFO	11	EFO	material property	CLN7 disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228366	"" []	7190211	\N	\N	EFO	12	EFO	experimental factor	CLN7 disease
Orphanet:228374	\N	\N	"" []	Orphanet:228374	"" []	74760	\N	\N	EFO	0	EFO	Severe early-onset axonal neuropathy due to NEFL deficiency	Severe early-onset axonal neuropathy due to NEFL deficiency
Orphanet:91024	Orphanet:228374	\N	"" []	Orphanet:228374	"" []	216895	\N	\N	EFO	1	EFO	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2	Severe early-onset axonal neuropathy due to NEFL deficiency
Orphanet:140450	Orphanet:91024	\N	"" []	Orphanet:228374	"" []	571482	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Severe early-onset axonal neuropathy due to NEFL deficiency
Orphanet:166	Orphanet:91024	\N	"" []	Orphanet:228374	"" []	571483	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Severe early-onset axonal neuropathy due to NEFL deficiency
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:228374	"" []	1153721	\N	\N	EFO	3	EFO	motor neuron disease	Severe early-onset axonal neuropathy due to NEFL deficiency
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:228374	"" []	1153722	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Severe early-onset axonal neuropathy due to NEFL deficiency
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:228374	"" []	1153723	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Severe early-onset axonal neuropathy due to NEFL deficiency
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:228374	"" []	2036300	\N	\N	EFO	4	EFO	neurodegenerative disease	Severe early-onset axonal neuropathy due to NEFL deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:228374	"" []	2036301	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Severe early-onset axonal neuropathy due to NEFL deficiency
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:228374	"" []	3186682	\N	\N	EFO	5	EFO	nervous system disease	Severe early-onset axonal neuropathy due to NEFL deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228374	"" []	3186683	\N	\N	EFO	5	EFO	genetic disorder	Severe early-onset axonal neuropathy due to NEFL deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228374	"" []	4394016	\N	\N	EFO	6	EFO	disease	Severe early-onset axonal neuropathy due to NEFL deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228374	"" []	4394017	\N	\N	EFO	6	EFO	disease	Severe early-onset axonal neuropathy due to NEFL deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228374	"" []	5412335	\N	\N	EFO	7	EFO	disposition	Severe early-onset axonal neuropathy due to NEFL deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228374	"" []	6149264	\N	\N	EFO	8	EFO	material property	Severe early-onset axonal neuropathy due to NEFL deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228374	"" []	6632558	\N	\N	EFO	9	EFO	experimental factor	Severe early-onset axonal neuropathy due to NEFL deficiency
Orphanet:228384	\N	\N	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	Orphanet:228384	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	74761	\N	\N	EFO	0	EFO	5q14.3 microdeletion syndrome	5q14.3 microdeletion syndrome
Orphanet:262038	Orphanet:228384	\N	"" []	Orphanet:228384	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	216896	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 5	5q14.3 microdeletion syndrome
Orphanet:261786	Orphanet:262038	\N	"" []	Orphanet:228384	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	571484	\N	\N	EFO	2	EFO	Partial deletion of chromosome 5	5q14.3 microdeletion syndrome
Orphanet:98142	Orphanet:261786	\N	"" []	Orphanet:228384	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	1153724	\N	\N	EFO	3	EFO	Partial autosomal monosomy	5q14.3 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:228384	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	2036302	\N	\N	EFO	4	EFO	Autosomal monosomy	5q14.3 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:228384	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	3186684	\N	\N	EFO	5	EFO	Autosomal anomaly	5q14.3 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:228384	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	4394018	\N	\N	EFO	6	EFO	Chromosomal anomaly	5q14.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228384	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	5412336	\N	\N	EFO	7	EFO	genetic disorder	5q14.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228384	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	6149265	\N	\N	EFO	8	EFO	disease	5q14.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228384	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	6632559	\N	\N	EFO	9	EFO	disposition	5q14.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228384	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	6925557	\N	\N	EFO	10	EFO	material property	5q14.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228384	"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." []	7099050	\N	\N	EFO	11	EFO	experimental factor	5q14.3 microdeletion syndrome
Orphanet:228387	\N	\N	"" []	Orphanet:228387	"" []	74762	\N	\N	EFO	0	EFO	Spondylo-megaepiphyseal-metaphyseal dysplasia	Spondylo-megaepiphyseal-metaphyseal dysplasia
Orphanet:253	Orphanet:228387	\N	"" []	Orphanet:228387	"" []	216897	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondylo-megaepiphyseal-metaphyseal dysplasia
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:228387	"" []	571485	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylo-megaepiphyseal-metaphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:228387	"" []	1153725	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylo-megaepiphyseal-metaphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:228387	"" []	1153726	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylo-megaepiphyseal-metaphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228387	"" []	2036303	\N	\N	EFO	4	EFO	genetic disorder	Spondylo-megaepiphyseal-metaphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:228387	"" []	2036304	\N	\N	EFO	4	EFO	bone disease	Spondylo-megaepiphyseal-metaphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:228387	"" []	2036305	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylo-megaepiphyseal-metaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228387	"" []	4394021	\N	\N	EFO	6	EFO	disease	Spondylo-megaepiphyseal-metaphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:228387	"" []	3186686	\N	\N	EFO	5	EFO	skeletal system disease	Spondylo-megaepiphyseal-metaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228387	"" []	3186687	\N	\N	EFO	5	EFO	genetic disorder	Spondylo-megaepiphyseal-metaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228387	"" []	5182040	\N	\N	EFO	7	EFO	disposition	Spondylo-megaepiphyseal-metaphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228387	"" []	4394020	\N	\N	EFO	6	EFO	disease	Spondylo-megaepiphyseal-metaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228387	"" []	5997424	\N	\N	EFO	8	EFO	material property	Spondylo-megaepiphyseal-metaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228387	"" []	6550837	\N	\N	EFO	9	EFO	experimental factor	Spondylo-megaepiphyseal-metaphyseal dysplasia
Orphanet:228390	\N	\N	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	74763	\N	\N	EFO	0	EFO	Frontonasal dysplasia with alopecia and genital anomaly	Frontonasal dysplasia with alopecia and genital anomaly
Orphanet:250	Orphanet:228390	\N	"" []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	216898	\N	\N	EFO	1	EFO	Frontonasal dysplasia	Frontonasal dysplasia with alopecia and genital anomaly
Orphanet:79364	Orphanet:228390	\N	"" []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	216899	\N	\N	EFO	1	EFO	Alopecia	Frontonasal dysplasia with alopecia and genital anomaly
Orphanet:93453	Orphanet:250	\N	"" []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	571486	\N	\N	EFO	2	EFO	Dysostosis with predominant craniofacial involvement	Frontonasal dysplasia with alopecia and genital anomaly
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	571487	\N	\N	EFO	2	EFO	Genetic hair anomaly	Frontonasal dysplasia with alopecia and genital anomaly
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	1153727	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Frontonasal dysplasia with alopecia and genital anomaly
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	1153728	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Frontonasal dysplasia with alopecia and genital anomaly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	2036306	\N	\N	EFO	4	EFO	Rare genetic bone disease	Frontonasal dysplasia with alopecia and genital anomaly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	2036307	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Frontonasal dysplasia with alopecia and genital anomaly
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	2036308	\N	\N	EFO	4	EFO	Rare genetic skin disease	Frontonasal dysplasia with alopecia and genital anomaly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	3186688	\N	\N	EFO	5	EFO	genetic disorder	Frontonasal dysplasia with alopecia and genital anomaly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	3186689	\N	\N	EFO	5	EFO	bone disease	Frontonasal dysplasia with alopecia and genital anomaly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	3186690	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Frontonasal dysplasia with alopecia and genital anomaly
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	3186691	\N	\N	EFO	5	EFO	genetic disorder	Frontonasal dysplasia with alopecia and genital anomaly
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	3186692	\N	\N	EFO	5	EFO	skin disease	Frontonasal dysplasia with alopecia and genital anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	5412340	\N	\N	EFO	7	EFO	disease	Frontonasal dysplasia with alopecia and genital anomaly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	4394023	\N	\N	EFO	6	EFO	skeletal system disease	Frontonasal dysplasia with alopecia and genital anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	4394024	\N	\N	EFO	6	EFO	genetic disorder	Frontonasal dysplasia with alopecia and genital anomaly
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	4394025	\N	\N	EFO	6	EFO	disease	Frontonasal dysplasia with alopecia and genital anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	5997425	\N	\N	EFO	8	EFO	disposition	Frontonasal dysplasia with alopecia and genital anomaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	5412339	\N	\N	EFO	7	EFO	disease	Frontonasal dysplasia with alopecia and genital anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	6550838	\N	\N	EFO	9	EFO	material property	Frontonasal dysplasia with alopecia and genital anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228390	"Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." []	6889147	\N	\N	EFO	10	EFO	experimental factor	Frontonasal dysplasia with alopecia and genital anomaly
Orphanet:228396	\N	\N	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	74764	\N	\N	EFO	0	EFO	Ptosis - upper ocular movement limitation - absence of lacrimal punctum	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
Orphanet:98578	Orphanet:228396	\N	"" []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	216900	\N	\N	EFO	1	EFO	Ptosis	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
Orphanet:98605	Orphanet:228396	\N	"" []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	216901	\N	\N	EFO	1	EFO	Excretory apparatus of the lacrimal system anomaly	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	571488	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
Orphanet:98602	Orphanet:98605	\N	"" []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	571489	\N	\N	EFO	2	EFO	Rare lacrimal system disease	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	1153729	\N	\N	EFO	3	EFO	Rare palpebral disease	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	1153730	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	2036309	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	3186693	\N	\N	EFO	5	EFO	Rare genetic eye disease	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	4133568	\N	\N	EFO	6	EFO	genetic disorder	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	4133569	\N	\N	EFO	6	EFO	eye disease	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	5182041	\N	\N	EFO	7	EFO	disease	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	5182042	\N	\N	EFO	7	EFO	disease	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	5997426	\N	\N	EFO	8	EFO	disposition	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	6550839	\N	\N	EFO	9	EFO	material property	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228396	"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." []	6889148	\N	\N	EFO	10	EFO	experimental factor	Ptosis - upper ocular movement limitation - absence of lacrimal punctum
Orphanet:228399	\N	\N	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	Orphanet:228399	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	74765	\N	\N	EFO	0	EFO	8q12 microduplication syndrome	8q12 microduplication syndrome
Orphanet:262896	Orphanet:228399	\N	"" []	Orphanet:228399	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	216902	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 8	8q12 microduplication syndrome
Orphanet:262638	Orphanet:262896	\N	"" []	Orphanet:228399	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	571490	\N	\N	EFO	2	EFO	Partial duplication of chromosome 8	8q12 microduplication syndrome
Orphanet:98132	Orphanet:262638	\N	"" []	Orphanet:228399	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	1153731	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	8q12 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:228399	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	2036311	\N	\N	EFO	4	EFO	Autosomal trisomy	8q12 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:228399	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	3186696	\N	\N	EFO	5	EFO	Autosomal anomaly	8q12 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:228399	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	4394028	\N	\N	EFO	6	EFO	Chromosomal anomaly	8q12 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228399	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	5412342	\N	\N	EFO	7	EFO	genetic disorder	8q12 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228399	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	6149269	\N	\N	EFO	8	EFO	disease	8q12 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228399	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	6632562	\N	\N	EFO	9	EFO	disposition	8q12 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228399	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	6925558	\N	\N	EFO	10	EFO	material property	8q12 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228399	"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." []	7099051	\N	\N	EFO	11	EFO	experimental factor	8q12 microduplication syndrome
Orphanet:228402	\N	\N	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	Orphanet:228402	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	74766	\N	\N	EFO	0	EFO	2q23.1 microdeletion syndrome	2q23.1 microdeletion syndrome
Orphanet:262010	Orphanet:228402	\N	"" []	Orphanet:228402	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	216903	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 2	2q23.1 microdeletion syndrome
Orphanet:261771	Orphanet:262010	\N	"" []	Orphanet:228402	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	571491	\N	\N	EFO	2	EFO	Partial deletion of chromosome 2	2q23.1 microdeletion syndrome
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:228402	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	1153732	\N	\N	EFO	3	EFO	Partial autosomal monosomy	2q23.1 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:228402	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	2036312	\N	\N	EFO	4	EFO	Autosomal monosomy	2q23.1 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:228402	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	3186697	\N	\N	EFO	5	EFO	Autosomal anomaly	2q23.1 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:228402	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	4394029	\N	\N	EFO	6	EFO	Chromosomal anomaly	2q23.1 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228402	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	5412343	\N	\N	EFO	7	EFO	genetic disorder	2q23.1 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228402	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	6149270	\N	\N	EFO	8	EFO	disease	2q23.1 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228402	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	6632563	\N	\N	EFO	9	EFO	disposition	2q23.1 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228402	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	6925559	\N	\N	EFO	10	EFO	material property	2q23.1 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228402	"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." []	7099052	\N	\N	EFO	11	EFO	experimental factor	2q23.1 microdeletion syndrome
Orphanet:228410	\N	\N	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	74767	\N	\N	EFO	0	EFO	Polyvalvular heart disease syndrome	Polyvalvular heart disease syndrome
Orphanet:139030	Orphanet:228410	\N	"" []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	216904	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Polyvalvular heart disease syndrome
Orphanet:156532	Orphanet:228410	\N	"" []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	216905	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Polyvalvular heart disease syndrome
Orphanet:330197	Orphanet:228410	\N	"" []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	216906	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Polyvalvular heart disease syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	571492	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Polyvalvular heart disease syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	571493	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Polyvalvular heart disease syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	571494	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Polyvalvular heart disease syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	2036315	\N	\N	EFO	4	EFO	genetic disorder	Polyvalvular heart disease syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	1153734	\N	\N	EFO	3	EFO	genetic disorder	Polyvalvular heart disease syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	1153735	\N	\N	EFO	3	EFO	heart disease	Polyvalvular heart disease syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	1153736	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Polyvalvular heart disease syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	3000220	\N	\N	EFO	5	EFO	disease	Polyvalvular heart disease syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	2036314	\N	\N	EFO	4	EFO	cardiovascular disease	Polyvalvular heart disease syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	4133570	\N	\N	EFO	6	EFO	disposition	Polyvalvular heart disease syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	3186699	\N	\N	EFO	5	EFO	disease	Polyvalvular heart disease syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	5182043	\N	\N	EFO	7	EFO	material property	Polyvalvular heart disease syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228410	"Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." []	5997427	\N	\N	EFO	8	EFO	experimental factor	Polyvalvular heart disease syndrome
Orphanet:228415	\N	\N	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	Orphanet:228415	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	74768	\N	\N	EFO	0	EFO	5q35 microduplication syndrome	5q35 microduplication syndrome
Orphanet:262869	Orphanet:228415	\N	"" []	Orphanet:228415	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	216907	\N	\N	EFO	1	EFO	Partial trisomy of the long arm of chromosome 5	5q35 microduplication syndrome
Orphanet:262211	Orphanet:262869	\N	"" []	Orphanet:228415	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	571495	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of chromosome 5	5q35 microduplication syndrome
Orphanet:98132	Orphanet:262211	\N	"" []	Orphanet:228415	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	1153737	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	5q35 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:228415	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	2036316	\N	\N	EFO	4	EFO	Autosomal trisomy	5q35 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:228415	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	3186700	\N	\N	EFO	5	EFO	Autosomal anomaly	5q35 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:228415	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	4394031	\N	\N	EFO	6	EFO	Chromosomal anomaly	5q35 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228415	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	5412345	\N	\N	EFO	7	EFO	genetic disorder	5q35 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228415	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	6149271	\N	\N	EFO	8	EFO	disease	5q35 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228415	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	6632564	\N	\N	EFO	9	EFO	disposition	5q35 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228415	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	6925560	\N	\N	EFO	10	EFO	material property	5q35 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228415	"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." []	7099053	\N	\N	EFO	11	EFO	experimental factor	5q35 microduplication syndrome
Orphanet:228418	\N	\N	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	74769	\N	\N	EFO	0	EFO	Microcephaly - seizures - developmental delay	Microcephaly - seizures - developmental delay
Orphanet:166472	Orphanet:228418	\N	"" []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	216908	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Microcephaly - seizures - developmental delay
Orphanet:269528	Orphanet:228418	\N	"" []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	216909	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Microcephaly - seizures - developmental delay
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	571496	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Microcephaly - seizures - developmental delay
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	571497	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephaly - seizures - developmental delay
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	1153738	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephaly - seizures - developmental delay
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	1153739	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microcephaly - seizures - developmental delay
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	3186703	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - seizures - developmental delay
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	2036318	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - seizures - developmental delay
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	2036319	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephaly - seizures - developmental delay
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	4133571	\N	\N	EFO	6	EFO	disease	Microcephaly - seizures - developmental delay
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	3186702	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - seizures - developmental delay
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	5182044	\N	\N	EFO	7	EFO	disposition	Microcephaly - seizures - developmental delay
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	5997428	\N	\N	EFO	8	EFO	material property	Microcephaly - seizures - developmental delay
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228418	"Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." []	6550840	\N	\N	EFO	9	EFO	experimental factor	Microcephaly - seizures - developmental delay
Orphanet:228423	\N	\N	"" []	Orphanet:228423	"" []	74770	\N	\N	EFO	0	EFO	Monocytopenia with susceptibility to infections	Monocytopenia with susceptibility to infections
Orphanet:183710	Orphanet:228423	\N	"" []	Orphanet:228423	"" []	216910	\N	\N	EFO	1	EFO	Genetic susceptibility to infections due to particular pathogens	Monocytopenia with susceptibility to infections
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:228423	"" []	571498	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Monocytopenia with susceptibility to infections
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:228423	"" []	1153740	\N	\N	EFO	3	EFO	Primary immunodeficiency	Monocytopenia with susceptibility to infections
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:228423	"" []	2036320	\N	\N	EFO	4	EFO	Rare genetic immune disease	Monocytopenia with susceptibility to infections
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228423	"" []	3186704	\N	\N	EFO	5	EFO	genetic disorder	Monocytopenia with susceptibility to infections
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:228423	"" []	3186705	\N	\N	EFO	5	EFO	immune system disease	Monocytopenia with susceptibility to infections
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228423	"" []	4394033	\N	\N	EFO	6	EFO	disease	Monocytopenia with susceptibility to infections
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228423	"" []	4394034	\N	\N	EFO	6	EFO	disease	Monocytopenia with susceptibility to infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228423	"" []	5412347	\N	\N	EFO	7	EFO	disposition	Monocytopenia with susceptibility to infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228423	"" []	6149273	\N	\N	EFO	8	EFO	material property	Monocytopenia with susceptibility to infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228423	"" []	6632565	\N	\N	EFO	9	EFO	experimental factor	Monocytopenia with susceptibility to infections
Orphanet:228426	\N	\N	"" []	Orphanet:228426	"" []	74771	\N	\N	EFO	0	EFO	Syndromic multisystem autoimmune disease due to Itch deficiency	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:102283	Orphanet:228426	\N	"" []	Orphanet:228426	"" []	216911	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:156610	Orphanet:228426	\N	"" []	Orphanet:228426	"" []	216912	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:169355	Orphanet:228426	\N	"" []	Orphanet:228426	"" []	216913	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with autoimmunity	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:183763	Orphanet:228426	\N	"" []	Orphanet:228426	"" []	216914	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:363300	Orphanet:228426	\N	"" []	Orphanet:228426	"" []	216915	\N	\N	EFO	1	EFO	Genetic intractable diarrhea of infancy	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:228426	"" []	571499	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228426	"" []	571500	\N	\N	EFO	2	EFO	genetic disorder	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:228426	"" []	571501	\N	\N	EFO	2	EFO	respiratory system disease	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:169361	Orphanet:169355	\N	"" []	Orphanet:228426	"" []	571502	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:228426	"" []	571503	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:165655	Orphanet:363300	\N	"" []	Orphanet:228426	"" []	571504	\N	\N	EFO	2	EFO	Genetic intestinal disease	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:228426	"" []	1153741	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228426	"" []	5412348	\N	\N	EFO	7	EFO	disease	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228426	"" []	1153743	\N	\N	EFO	3	EFO	disease	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:228426	"" []	1153744	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:228426	"" []	1153745	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:228426	"" []	1153746	\N	\N	EFO	3	EFO	digestive system disease	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:228426	"" []	1153747	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228426	"" []	2036321	\N	\N	EFO	4	EFO	genetic disorder	Syndromic multisystem autoimmune disease due to Itch deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228426	"" []	5801851	\N	\N	EFO	8	EFO	disposition	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:228426	"" []	2036323	\N	\N	EFO	4	EFO	Primary immunodeficiency	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228426	"" []	2036324	\N	\N	EFO	4	EFO	genetic disorder	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228426	"" []	2036325	\N	\N	EFO	4	EFO	disease	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228426	"" []	2036326	\N	\N	EFO	4	EFO	genetic disorder	Syndromic multisystem autoimmune disease due to Itch deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228426	"" []	6378857	\N	\N	EFO	9	EFO	material property	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:228426	"" []	3186708	\N	\N	EFO	5	EFO	Rare genetic immune disease	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228426	"" []	6778652	\N	\N	EFO	10	EFO	experimental factor	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228426	"" []	4394036	\N	\N	EFO	6	EFO	genetic disorder	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:228426	"" []	4394037	\N	\N	EFO	6	EFO	immune system disease	Syndromic multisystem autoimmune disease due to Itch deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228426	"" []	5412349	\N	\N	EFO	7	EFO	disease	Syndromic multisystem autoimmune disease due to Itch deficiency
Orphanet:228429	\N	\N	"" []	Orphanet:228429	"" []	74772	\N	\N	EFO	0	EFO	Generalized congenital lipodystrophy with myopathy	Generalized congenital lipodystrophy with myopathy
Orphanet:101934	Orphanet:228429	\N	"" []	Orphanet:228429	"" []	216916	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Generalized congenital lipodystrophy with myopathy
Orphanet:181368	Orphanet:228429	\N	"" []	Orphanet:228429	"" []	216917	\N	\N	EFO	1	EFO	Rare insulin-resistance syndrome	Generalized congenital lipodystrophy with myopathy
Orphanet:206656	Orphanet:228429	\N	"" []	Orphanet:228429	"" []	216918	\N	\N	EFO	1	EFO	Non-dystrophic myopathy	Generalized congenital lipodystrophy with myopathy
Orphanet:98305	Orphanet:228429	\N	"" []	Orphanet:228429	"" []	216919	\N	\N	EFO	1	EFO	Genetic lipodystrophy	Generalized congenital lipodystrophy with myopathy
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:228429	"" []	571505	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Generalized congenital lipodystrophy with myopathy
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:228429	"" []	571506	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Generalized congenital lipodystrophy with myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:228429	"" []	571507	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Generalized congenital lipodystrophy with myopathy
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:228429	"" []	571508	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Generalized congenital lipodystrophy with myopathy
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:228429	"" []	571509	\N	\N	EFO	2	EFO	Primary lipodystrophy	Generalized congenital lipodystrophy with myopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228429	"" []	1153748	\N	\N	EFO	3	EFO	genetic disorder	Generalized congenital lipodystrophy with myopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:228429	"" []	1153749	\N	\N	EFO	3	EFO	heart disease	Generalized congenital lipodystrophy with myopathy
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:228429	"" []	1153750	\N	\N	EFO	3	EFO	diabetes mellitus	Generalized congenital lipodystrophy with myopathy
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:228429	"" []	1153751	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Generalized congenital lipodystrophy with myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:228429	"" []	1153752	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Generalized congenital lipodystrophy with myopathy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228429	"" []	2036330	\N	\N	EFO	4	EFO	genetic disorder	Generalized congenital lipodystrophy with myopathy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:228429	"" []	2036331	\N	\N	EFO	4	EFO	endocrine system disease	Generalized congenital lipodystrophy with myopathy
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:228429	"" []	1153755	\N	\N	EFO	3	EFO	Genetic subcutaneous tissue disorder	Generalized congenital lipodystrophy with myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228429	"" []	4394040	\N	\N	EFO	6	EFO	disease	Generalized congenital lipodystrophy with myopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:228429	"" []	2036328	\N	\N	EFO	4	EFO	cardiovascular disease	Generalized congenital lipodystrophy with myopathy
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:228429	"" []	2036329	\N	\N	EFO	4	EFO	metabolic disease	Generalized congenital lipodystrophy with myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:228429	"" []	2036332	\N	\N	EFO	4	EFO	muscular disease	Generalized congenital lipodystrophy with myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:228429	"" []	2036333	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Generalized congenital lipodystrophy with myopathy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228429	"" []	3000222	\N	\N	EFO	5	EFO	disease	Generalized congenital lipodystrophy with myopathy
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:228429	"" []	2036335	\N	\N	EFO	4	EFO	Rare genetic skin disease	Generalized congenital lipodystrophy with myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:228429	"" []	5059773	\N	\N	EFO	7	EFO	disposition	Generalized congenital lipodystrophy with myopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228429	"" []	3186711	\N	\N	EFO	5	EFO	disease	Generalized congenital lipodystrophy with myopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228429	"" []	3186712	\N	\N	EFO	5	EFO	disease	Generalized congenital lipodystrophy with myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:228429	"" []	3186713	\N	\N	EFO	5	EFO	skeletal system disease	Generalized congenital lipodystrophy with myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228429	"" []	3186714	\N	\N	EFO	5	EFO	genetic disorder	Generalized congenital lipodystrophy with myopathy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:228429	"" []	3186715	\N	\N	EFO	5	EFO	genetic disorder	Generalized congenital lipodystrophy with myopathy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:228429	"" []	3186716	\N	\N	EFO	5	EFO	skin disease	Generalized congenital lipodystrophy with myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:228429	"" []	5877013	\N	\N	EFO	8	EFO	material property	Generalized congenital lipodystrophy with myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228429	"" []	4394039	\N	\N	EFO	6	EFO	disease	Generalized congenital lipodystrophy with myopathy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:228429	"" []	4394041	\N	\N	EFO	6	EFO	disease	Generalized congenital lipodystrophy with myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:228429	"" []	6470240	\N	\N	EFO	9	EFO	experimental factor	Generalized congenital lipodystrophy with myopathy
Orphanet:2285	\N	\N	"" []	Orphanet:2285	"" []	74773	\N	\N	EFO	0	EFO	Primary basilar impression	Primary basilar impression
Orphanet:183515	Orphanet:2285	\N	"" []	Orphanet:2285	"" []	216920	\N	\N	EFO	1	EFO	Rare genetic medullar disease	Primary basilar impression
Orphanet:71859	Orphanet:183515	\N	"" []	Orphanet:2285	"" []	571510	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Primary basilar impression
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2285	"" []	1153756	\N	\N	EFO	3	EFO	genetic disorder	Primary basilar impression
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2285	"" []	2036336	\N	\N	EFO	4	EFO	disease	Primary basilar impression
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2285	"" []	3186717	\N	\N	EFO	5	EFO	disposition	Primary basilar impression
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2285	"" []	4394042	\N	\N	EFO	6	EFO	material property	Primary basilar impression
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2285	"" []	5412351	\N	\N	EFO	7	EFO	experimental factor	Primary basilar impression
Orphanet:2286	\N	\N	"" []	Orphanet:2286	"" []	74774	\N	\N	EFO	0	EFO	Solitary median maxillary central incisor syndrome	Solitary median maxillary central incisor syndrome
Orphanet:183580	Orphanet:2286	\N	"" []	Orphanet:2286	"" []	216921	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Solitary median maxillary central incisor syndrome
Orphanet:280200	Orphanet:2286	\N	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	Orphanet:2286	"" []	216922	\N	\N	EFO	1	EFO	Microform holoprosencephaly	Solitary median maxillary central incisor syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2286	"" []	571511	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Solitary median maxillary central incisor syndrome
Orphanet:2162	Orphanet:280200	\N	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	Orphanet:2286	"" []	571512	\N	\N	EFO	2	EFO	Holoprosencephaly	Solitary median maxillary central incisor syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2286	"" []	6149274	\N	\N	EFO	8	EFO	genetic disorder	Solitary median maxillary central incisor syndrome
Orphanet:102283	Orphanet:2162	\N	"" []	Orphanet:2286	"" []	1153758	\N	\N	EFO	3	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Solitary median maxillary central incisor syndrome
Orphanet:166478	Orphanet:2162	\N	"" []	Orphanet:2286	"" []	1153759	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Solitary median maxillary central incisor syndrome
Orphanet:183763	Orphanet:2162	\N	"" []	Orphanet:2286	"" []	1153760	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Solitary median maxillary central incisor syndrome
Orphanet:268926	Orphanet:2162	\N	"" []	Orphanet:2286	"" []	1153761	\N	\N	EFO	3	EFO	Midline cerebral malformation	Solitary median maxillary central incisor syndrome
Orphanet:95495	Orphanet:2162	\N	"" []	Orphanet:2286	"" []	1153762	\N	\N	EFO	3	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Solitary median maxillary central incisor syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2286	"" []	6925561	\N	\N	EFO	10	EFO	disease	Solitary median maxillary central incisor syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2286	"" []	2036338	\N	\N	EFO	4	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Solitary median maxillary central incisor syndrome
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:2286	"" []	2036339	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Solitary median maxillary central incisor syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2286	"" []	2036340	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Solitary median maxillary central incisor syndrome
Orphanet:269553	Orphanet:268926	\N	"" []	Orphanet:2286	"" []	2036341	\N	\N	EFO	4	EFO	Genetic cerebral malformation	Solitary median maxillary central incisor syndrome
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:2286	"" []	2036342	\N	\N	EFO	4	EFO	Non-acquired combined pituitary hormone deficiency	Solitary median maxillary central incisor syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2286	"" []	7008639	\N	\N	EFO	11	EFO	disposition	Solitary median maxillary central incisor syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2286	"" []	3186719	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Solitary median maxillary central incisor syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2286	"" []	3186720	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Solitary median maxillary central incisor syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2286	"" []	3186721	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Solitary median maxillary central incisor syndrome
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:2286	"" []	3186722	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Solitary median maxillary central incisor syndrome
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:2286	"" []	3186723	\N	\N	EFO	5	EFO	Non-acquired pituitary hormone deficiency	Solitary median maxillary central incisor syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2286	"" []	7167532	\N	\N	EFO	12	EFO	material property	Solitary median maxillary central incisor syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2286	"" []	6149275	\N	\N	EFO	8	EFO	genetic disorder	Solitary median maxillary central incisor syndrome
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2286	"" []	4394046	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Solitary median maxillary central incisor syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:2286	"" []	4394047	\N	\N	EFO	6	EFO	Pituitary deficiency	Solitary median maxillary central incisor syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2286	"" []	7272437	\N	\N	EFO	13	EFO	experimental factor	Solitary median maxillary central incisor syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2286	"" []	5412353	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Solitary median maxillary central incisor syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2286	"" []	5412354	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Solitary median maxillary central incisor syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:2286	"" []	5412355	\N	\N	EFO	7	EFO	Rare genetic hypothalamic or pituitary disease	Solitary median maxillary central incisor syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:2286	"" []	6149276	\N	\N	EFO	8	EFO	Rare genetic endocrine disease	Solitary median maxillary central incisor syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2286	"" []	6632566	\N	\N	EFO	9	EFO	genetic disorder	Solitary median maxillary central incisor syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2286	"" []	6632567	\N	\N	EFO	9	EFO	endocrine system disease	Solitary median maxillary central incisor syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2286	"" []	6925562	\N	\N	EFO	10	EFO	disease	Solitary median maxillary central incisor syndrome
Orphanet:2287	\N	\N	"Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure." []	Orphanet:2287	"Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure." []	74775	\N	\N	EFO	0	EFO	Fused mandibular incisors	Fused mandibular incisors
Orphanet:164001	Orphanet:2287	\N	"" []	Orphanet:2287	"Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure." []	216923	\N	\N	EFO	1	EFO	Rare odontal or periodontal disorder	Fused mandibular incisors
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:2287	"Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure." []	571513	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Fused mandibular incisors
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2287	"Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure." []	1153763	\N	\N	EFO	3	EFO	genetic disorder	Fused mandibular incisors
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2287	"Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure." []	2036343	\N	\N	EFO	4	EFO	disease	Fused mandibular incisors
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2287	"Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure." []	3186724	\N	\N	EFO	5	EFO	disposition	Fused mandibular incisors
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2287	"Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure." []	4394048	\N	\N	EFO	6	EFO	material property	Fused mandibular incisors
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2287	"Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure." []	5412356	\N	\N	EFO	7	EFO	experimental factor	Fused mandibular incisors
Orphanet:2289	\N	\N	"" []	Orphanet:2289	"" []	74776	\N	\N	EFO	0	EFO	Neuronal intranuclear inclusion disease	Neuronal intranuclear inclusion disease
Orphanet:183500	Orphanet:2289	\N	"" []	Orphanet:2289	"" []	216924	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Neuronal intranuclear inclusion disease
Orphanet:307058	Orphanet:2289	\N	"" []	Orphanet:2289	"" []	216925	\N	\N	EFO	1	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Neuronal intranuclear inclusion disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2289	"" []	571514	\N	\N	EFO	2	EFO	neurodegenerative disease	Neuronal intranuclear inclusion disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2289	"" []	571515	\N	\N	EFO	2	EFO	brain disease	Neuronal intranuclear inclusion disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2289	"" []	571516	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neuronal intranuclear inclusion disease
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2289	"" []	571517	\N	\N	EFO	2	EFO	neurodegenerative disease	Neuronal intranuclear inclusion disease
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:2289	"" []	571518	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Neuronal intranuclear inclusion disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2289	"" []	1153764	\N	\N	EFO	3	EFO	nervous system disease	Neuronal intranuclear inclusion disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2289	"" []	1153765	\N	\N	EFO	3	EFO	nervous system disease	Neuronal intranuclear inclusion disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2289	"" []	2036347	\N	\N	EFO	4	EFO	genetic disorder	Neuronal intranuclear inclusion disease
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:2289	"" []	1153767	\N	\N	EFO	3	EFO	movement disorder	Neuronal intranuclear inclusion disease
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:2289	"" []	1153768	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neuronal intranuclear inclusion disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2289	"" []	3186726	\N	\N	EFO	5	EFO	disease	Neuronal intranuclear inclusion disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2289	"" []	3000223	\N	\N	EFO	5	EFO	disease	Neuronal intranuclear inclusion disease
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2289	"" []	2036346	\N	\N	EFO	4	EFO	nervous system disease	Neuronal intranuclear inclusion disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2289	"" []	4133574	\N	\N	EFO	6	EFO	disposition	Neuronal intranuclear inclusion disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2289	"" []	5182047	\N	\N	EFO	7	EFO	material property	Neuronal intranuclear inclusion disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2289	"" []	5997430	\N	\N	EFO	8	EFO	experimental factor	Neuronal intranuclear inclusion disease
Orphanet:229	\N	\N	"" []	Orphanet:229	"" []	74777	\N	\N	EFO	0	EFO	Familial aortic dissection	Familial aortic dissection
EFO:0005775	Orphanet:229	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	Orphanet:229	"" []	216926	\N	\N	EFO	1	EFO	aortic disease	Familial aortic dissection
Orphanet:285014	Orphanet:229	\N	"" []	Orphanet:229	"" []	216927	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Familial aortic dissection
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:229	"" []	571519	\N	\N	EFO	2	EFO	vascular disease	Familial aortic dissection
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:229	"" []	571520	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Familial aortic dissection
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:229	"" []	2036350	\N	\N	EFO	4	EFO	cardiovascular disease	Familial aortic dissection
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:229	"" []	1153770	\N	\N	EFO	3	EFO	genetic disorder	Familial aortic dissection
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:229	"" []	1153771	\N	\N	EFO	3	EFO	vascular disease	Familial aortic dissection
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:229	"" []	3000224	\N	\N	EFO	5	EFO	disease	Familial aortic dissection
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:229	"" []	2036349	\N	\N	EFO	4	EFO	disease	Familial aortic dissection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:229	"" []	4133575	\N	\N	EFO	6	EFO	disposition	Familial aortic dissection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:229	"" []	5182048	\N	\N	EFO	7	EFO	material property	Familial aortic dissection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:229	"" []	5997431	\N	\N	EFO	8	EFO	experimental factor	Familial aortic dissection
Orphanet:2290	\N	\N	"" []	Orphanet:2290	"" []	74778	\N	\N	EFO	0	EFO	Microvillus inclusion disease	Microvillus inclusion disease
Orphanet:104007	Orphanet:2290	\N	"" []	Orphanet:2290	"" []	216928	\N	\N	EFO	1	EFO	Congenital enteropathy involving intestinal mucosa development	Microvillus inclusion disease
Orphanet:363300	Orphanet:2290	\N	"" []	Orphanet:2290	"" []	216929	\N	\N	EFO	1	EFO	Genetic intractable diarrhea of infancy	Microvillus inclusion disease
Orphanet:165655	Orphanet:104007	\N	"" []	Orphanet:2290	"" []	571521	\N	\N	EFO	2	EFO	Genetic intestinal disease	Microvillus inclusion disease
Orphanet:165655	Orphanet:363300	\N	"" []	Orphanet:2290	"" []	571522	\N	\N	EFO	2	EFO	Genetic intestinal disease	Microvillus inclusion disease
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2290	"" []	1153772	\N	\N	EFO	3	EFO	digestive system disease	Microvillus inclusion disease
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:2290	"" []	1153773	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Microvillus inclusion disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2290	"" []	2036351	\N	\N	EFO	4	EFO	disease	Microvillus inclusion disease
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2290	"" []	2036352	\N	\N	EFO	4	EFO	genetic disorder	Microvillus inclusion disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2290	"" []	4394052	\N	\N	EFO	6	EFO	disposition	Microvillus inclusion disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2290	"" []	3186729	\N	\N	EFO	5	EFO	disease	Microvillus inclusion disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2290	"" []	5182049	\N	\N	EFO	7	EFO	material property	Microvillus inclusion disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2290	"" []	5997432	\N	\N	EFO	8	EFO	experimental factor	Microvillus inclusion disease
Orphanet:2292	\N	\N	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	74779	\N	\N	EFO	0	EFO	Congenital bowing of long bones	Congenital bowing of long bones
Orphanet:294944	Orphanet:2292	\N	"" []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	216930	\N	\N	EFO	1	EFO	Congenital deformities of limbs	Congenital bowing of long bones
Orphanet:93439	Orphanet:2292	\N	"" []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	216931	\N	\N	EFO	1	EFO	Bent bone dysplasia	Congenital bowing of long bones
Orphanet:109011	Orphanet:294944	\N	"" []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	571523	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Congenital bowing of long bones
Orphanet:364526	Orphanet:93439	\N	"" []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	571524	\N	\N	EFO	2	EFO	Primary bone dysplasia	Congenital bowing of long bones
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	1153774	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Congenital bowing of long bones
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	1153775	\N	\N	EFO	3	EFO	Rare genetic bone disease	Congenital bowing of long bones
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	1153776	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Congenital bowing of long bones
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	2036353	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital bowing of long bones
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	2036354	\N	\N	EFO	4	EFO	genetic disorder	Congenital bowing of long bones
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	2036355	\N	\N	EFO	4	EFO	bone disease	Congenital bowing of long bones
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	2036356	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital bowing of long bones
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	3186730	\N	\N	EFO	5	EFO	genetic disorder	Congenital bowing of long bones
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	4394053	\N	\N	EFO	6	EFO	disease	Congenital bowing of long bones
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	3186732	\N	\N	EFO	5	EFO	skeletal system disease	Congenital bowing of long bones
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	5182050	\N	\N	EFO	7	EFO	disposition	Congenital bowing of long bones
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	4394055	\N	\N	EFO	6	EFO	disease	Congenital bowing of long bones
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	5997433	\N	\N	EFO	8	EFO	material property	Congenital bowing of long bones
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2292	"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." []	6550841	\N	\N	EFO	9	EFO	experimental factor	Congenital bowing of long bones
Orphanet:2295	\N	\N	"" []	Orphanet:2295	"" []	74780	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome type 11	Ehlers-Danlos syndrome type 11
Orphanet:98249	Orphanet:2295	\N	"" []	Orphanet:2295	"" []	216932	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome type 11
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:2295	"" []	571525	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome type 11
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:2295	"" []	571526	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome type 11
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:2295	"" []	571527	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome type 11
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:2295	"" []	571528	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome type 11
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2295	"" []	1153777	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome type 11
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:2295	"" []	1153778	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome type 11
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:2295	"" []	1153779	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome type 11
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2295	"" []	1153780	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome type 11
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2295	"" []	2036357	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome type 11
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2295	"" []	2036358	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome type 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2295	"" []	4394056	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome type 11
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2295	"" []	3186734	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome type 11
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2295	"" []	3186735	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome type 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2295	"" []	5059774	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome type 11
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2295	"" []	4394057	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome type 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2295	"" []	5877014	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome type 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2295	"" []	6470241	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome type 11
Orphanet:2297	\N	\N	"" []	Orphanet:2297	"" []	74781	\N	\N	EFO	0	EFO	Insulin-resistance syndrome type A	Insulin-resistance syndrome type A
Orphanet:181368	Orphanet:2297	\N	"" []	Orphanet:2297	"" []	216933	\N	\N	EFO	1	EFO	Rare insulin-resistance syndrome	Insulin-resistance syndrome type A
Orphanet:400022	Orphanet:2297	\N	"" []	Orphanet:2297	"" []	216934	\N	\N	EFO	1	EFO	Rare female infertility due to an anomaly of ovarian function of genetic origin	Insulin-resistance syndrome type A
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:2297	"" []	571529	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Insulin-resistance syndrome type A
EFO:0005771	Orphanet:400022	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:2297	"" []	571530	\N	\N	EFO	2	EFO	ovarian disease	Insulin-resistance syndrome type A
Orphanet:400011	Orphanet:400022	\N	"" []	Orphanet:2297	"" []	571531	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Insulin-resistance syndrome type A
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:2297	"" []	1153781	\N	\N	EFO	3	EFO	diabetes mellitus	Insulin-resistance syndrome type A
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:2297	"" []	1153782	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Insulin-resistance syndrome type A
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:2297	"" []	1153783	\N	\N	EFO	3	EFO	reproductive system disease	Insulin-resistance syndrome type A
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:2297	"" []	1153784	\N	\N	EFO	3	EFO	Rare genetic female infertility	Insulin-resistance syndrome type A
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2297	"" []	2036360	\N	\N	EFO	4	EFO	metabolic disease	Insulin-resistance syndrome type A
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2297	"" []	2036361	\N	\N	EFO	4	EFO	genetic disorder	Insulin-resistance syndrome type A
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2297	"" []	2036362	\N	\N	EFO	4	EFO	endocrine system disease	Insulin-resistance syndrome type A
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2297	"" []	4394062	\N	\N	EFO	6	EFO	disease	Insulin-resistance syndrome type A
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:2297	"" []	2036364	\N	\N	EFO	4	EFO	Genetic infertility	Insulin-resistance syndrome type A
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2297	"" []	3186737	\N	\N	EFO	5	EFO	disease	Insulin-resistance syndrome type A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2297	"" []	4394061	\N	\N	EFO	6	EFO	disease	Insulin-resistance syndrome type A
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2297	"" []	3186739	\N	\N	EFO	5	EFO	disease	Insulin-resistance syndrome type A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2297	"" []	5059775	\N	\N	EFO	7	EFO	disposition	Insulin-resistance syndrome type A
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2297	"" []	3186741	\N	\N	EFO	5	EFO	genetic disorder	Insulin-resistance syndrome type A
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2297	"" []	3186742	\N	\N	EFO	5	EFO	reproductive system disease	Insulin-resistance syndrome type A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2297	"" []	5877015	\N	\N	EFO	8	EFO	material property	Insulin-resistance syndrome type A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2297	"" []	6470242	\N	\N	EFO	9	EFO	experimental factor	Insulin-resistance syndrome type A
Orphanet:229717	\N	\N	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	74782	\N	\N	EFO	0	EFO	Isolated agammaglobulinemia	Isolated agammaglobulinemia
Orphanet:183669	Orphanet:229717	\N	"" []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	216935	\N	\N	EFO	1	EFO	Agammaglobulinemia	Isolated agammaglobulinemia
Orphanet:101977	Orphanet:183669	\N	"" []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	571532	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Isolated agammaglobulinemia
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	1153785	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Isolated agammaglobulinemia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	2036365	\N	\N	EFO	4	EFO	Primary immunodeficiency	Isolated agammaglobulinemia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	3186743	\N	\N	EFO	5	EFO	Rare genetic immune disease	Isolated agammaglobulinemia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	4394063	\N	\N	EFO	6	EFO	genetic disorder	Isolated agammaglobulinemia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	4394064	\N	\N	EFO	6	EFO	immune system disease	Isolated agammaglobulinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	5412363	\N	\N	EFO	7	EFO	disease	Isolated agammaglobulinemia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	5412364	\N	\N	EFO	7	EFO	disease	Isolated agammaglobulinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	6149278	\N	\N	EFO	8	EFO	disposition	Isolated agammaglobulinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	6632568	\N	\N	EFO	9	EFO	material property	Isolated agammaglobulinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:229717	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	6925563	\N	\N	EFO	10	EFO	experimental factor	Isolated agammaglobulinemia
Orphanet:229720	\N	\N	"" []	Orphanet:229720	"" []	74783	\N	\N	EFO	0	EFO	Syndromic agammaglobulinemia	Syndromic agammaglobulinemia
Orphanet:183669	Orphanet:229720	\N	"" []	Orphanet:229720	"" []	216936	\N	\N	EFO	1	EFO	Agammaglobulinemia	Syndromic agammaglobulinemia
Orphanet:101977	Orphanet:183669	\N	"" []	Orphanet:229720	"" []	571533	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Syndromic agammaglobulinemia
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:229720	"" []	1153786	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Syndromic agammaglobulinemia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:229720	"" []	2036366	\N	\N	EFO	4	EFO	Primary immunodeficiency	Syndromic agammaglobulinemia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:229720	"" []	3186744	\N	\N	EFO	5	EFO	Rare genetic immune disease	Syndromic agammaglobulinemia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:229720	"" []	4394065	\N	\N	EFO	6	EFO	genetic disorder	Syndromic agammaglobulinemia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:229720	"" []	4394066	\N	\N	EFO	6	EFO	immune system disease	Syndromic agammaglobulinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:229720	"" []	5412365	\N	\N	EFO	7	EFO	disease	Syndromic agammaglobulinemia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:229720	"" []	5412366	\N	\N	EFO	7	EFO	disease	Syndromic agammaglobulinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:229720	"" []	6149279	\N	\N	EFO	8	EFO	disposition	Syndromic agammaglobulinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:229720	"" []	6632569	\N	\N	EFO	9	EFO	material property	Syndromic agammaglobulinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:229720	"" []	6925564	\N	\N	EFO	10	EFO	experimental factor	Syndromic agammaglobulinemia
Orphanet:2298	\N	\N	"" []	Orphanet:2298	"" []	74784	\N	\N	EFO	0	EFO	Insulin-resistance syndrome type B	Insulin-resistance syndrome type B
Orphanet:181368	Orphanet:2298	\N	"" []	Orphanet:2298	"" []	216937	\N	\N	EFO	1	EFO	Rare insulin-resistance syndrome	Insulin-resistance syndrome type B
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:2298	"" []	571534	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Insulin-resistance syndrome type B
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:2298	"" []	1153787	\N	\N	EFO	3	EFO	diabetes mellitus	Insulin-resistance syndrome type B
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:2298	"" []	1153788	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Insulin-resistance syndrome type B
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2298	"" []	2036367	\N	\N	EFO	4	EFO	metabolic disease	Insulin-resistance syndrome type B
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2298	"" []	2036368	\N	\N	EFO	4	EFO	genetic disorder	Insulin-resistance syndrome type B
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2298	"" []	2036369	\N	\N	EFO	4	EFO	endocrine system disease	Insulin-resistance syndrome type B
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2298	"" []	3186745	\N	\N	EFO	5	EFO	disease	Insulin-resistance syndrome type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2298	"" []	3186746	\N	\N	EFO	5	EFO	disease	Insulin-resistance syndrome type B
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2298	"" []	3186747	\N	\N	EFO	5	EFO	disease	Insulin-resistance syndrome type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2298	"" []	4394067	\N	\N	EFO	6	EFO	disposition	Insulin-resistance syndrome type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2298	"" []	5412367	\N	\N	EFO	7	EFO	material property	Insulin-resistance syndrome type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2298	"" []	6149280	\N	\N	EFO	8	EFO	experimental factor	Insulin-resistance syndrome type B
Orphanet:23	\N	\N	"Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." []	Orphanet:23	"Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." []	74785	\N	\N	EFO	0	EFO	Argininosuccinic aciduria	Argininosuccinic aciduria
Orphanet:79167	Orphanet:23	\N	"" []	Orphanet:23	"Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." []	216938	\N	\N	EFO	1	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Argininosuccinic aciduria
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:23	"Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." []	571535	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Argininosuccinic aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:23	"Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." []	1153789	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Argininosuccinic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:23	"Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." []	2036370	\N	\N	EFO	4	EFO	genetic disorder	Argininosuccinic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:23	"Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." []	2036371	\N	\N	EFO	4	EFO	metabolic disease	Argininosuccinic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:23	"Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." []	3186748	\N	\N	EFO	5	EFO	disease	Argininosuccinic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:23	"Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." []	3186749	\N	\N	EFO	5	EFO	disease	Argininosuccinic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:23	"Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." []	4394068	\N	\N	EFO	6	EFO	disposition	Argininosuccinic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:23	"Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." []	5412368	\N	\N	EFO	7	EFO	material property	Argininosuccinic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:23	"Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." []	6149281	\N	\N	EFO	8	EFO	experimental factor	Argininosuccinic aciduria
Orphanet:230	\N	\N	"" []	Orphanet:230	"" []	74786	\N	\N	EFO	0	EFO	Dopamine beta-hydroxylase deficiency	Dopamine beta-hydroxylase deficiency
Orphanet:309830	Orphanet:230	\N	"" []	Orphanet:230	"" []	216939	\N	\N	EFO	1	EFO	Disorder of catecholamine synthesis	Dopamine beta-hydroxylase deficiency
Orphanet:68385	Orphanet:230	\N	"" []	Orphanet:230	"" []	216940	\N	\N	EFO	1	EFO	Neurometabolic disease	Dopamine beta-hydroxylase deficiency
Orphanet:98578	Orphanet:230	\N	"" []	Orphanet:230	"" []	216941	\N	\N	EFO	1	EFO	Ptosis	Dopamine beta-hydroxylase deficiency
Orphanet:79169	Orphanet:309830	\N	"" []	Orphanet:230	"" []	571536	\N	\N	EFO	2	EFO	Disorder of neurotransmitter metabolism and transport	Dopamine beta-hydroxylase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:230	"" []	571537	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Dopamine beta-hydroxylase deficiency
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:230	"" []	571538	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Dopamine beta-hydroxylase deficiency
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:230	"" []	1153790	\N	\N	EFO	3	EFO	Disorder of biogenic amine metabolism and transport	Dopamine beta-hydroxylase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230	"" []	1153791	\N	\N	EFO	3	EFO	genetic disorder	Dopamine beta-hydroxylase deficiency
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:230	"" []	1153792	\N	\N	EFO	3	EFO	Rare palpebral disease	Dopamine beta-hydroxylase deficiency
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:230	"" []	2036372	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Dopamine beta-hydroxylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230	"" []	5412370	\N	\N	EFO	7	EFO	disease	Dopamine beta-hydroxylase deficiency
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:230	"" []	2036374	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Dopamine beta-hydroxylase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230	"" []	3186750	\N	\N	EFO	5	EFO	genetic disorder	Dopamine beta-hydroxylase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:230	"" []	3186751	\N	\N	EFO	5	EFO	metabolic disease	Dopamine beta-hydroxylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:230	"" []	5817576	\N	\N	EFO	8	EFO	disposition	Dopamine beta-hydroxylase deficiency
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:230	"" []	3186753	\N	\N	EFO	5	EFO	Rare genetic eye disease	Dopamine beta-hydroxylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230	"" []	4394070	\N	\N	EFO	6	EFO	disease	Dopamine beta-hydroxylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:230	"" []	6409966	\N	\N	EFO	9	EFO	material property	Dopamine beta-hydroxylase deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230	"" []	4394072	\N	\N	EFO	6	EFO	genetic disorder	Dopamine beta-hydroxylase deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:230	"" []	4394073	\N	\N	EFO	6	EFO	eye disease	Dopamine beta-hydroxylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:230	"" []	6807819	\N	\N	EFO	10	EFO	experimental factor	Dopamine beta-hydroxylase deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230	"" []	5412371	\N	\N	EFO	7	EFO	disease	Dopamine beta-hydroxylase deficiency
Orphanet:2300	\N	\N	"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns" []	Orphanet:2300	"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns" []	74787	\N	\N	EFO	0	EFO	Multiple intestinal atresia	Multiple intestinal atresia
Orphanet:108967	Orphanet:2300	\N	"" []	Orphanet:2300	"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns" []	216942	\N	\N	EFO	1	EFO	Non-syndromic intestinal malformation	Multiple intestinal atresia
Orphanet:97945	Orphanet:108967	\N	"" []	Orphanet:2300	"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns" []	571539	\N	\N	EFO	2	EFO	Intestinal malformation	Multiple intestinal atresia
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:2300	"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns" []	1153793	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Multiple intestinal atresia
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2300	"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns" []	2036375	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Multiple intestinal atresia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2300	"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns" []	3186754	\N	\N	EFO	5	EFO	genetic disorder	Multiple intestinal atresia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2300	"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns" []	4394074	\N	\N	EFO	6	EFO	disease	Multiple intestinal atresia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2300	"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns" []	5412372	\N	\N	EFO	7	EFO	disposition	Multiple intestinal atresia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2300	"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns" []	6149282	\N	\N	EFO	8	EFO	material property	Multiple intestinal atresia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2300	"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns" []	6632570	\N	\N	EFO	9	EFO	experimental factor	Multiple intestinal atresia
Orphanet:2301	\N	\N	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	74788	\N	\N	EFO	0	EFO	Congenital short bowel syndrome	Congenital short bowel syndrome
Orphanet:108969	Orphanet:2301	\N	"" []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	216943	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Congenital short bowel syndrome
Orphanet:365563	Orphanet:2301	\N	"" []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	216944	\N	\N	EFO	1	EFO	Primary short bowel syndrome	Congenital short bowel syndrome
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	571540	\N	\N	EFO	2	EFO	Intestinal malformation	Congenital short bowel syndrome
Orphanet:165655	Orphanet:365563	\N	"" []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	571541	\N	\N	EFO	2	EFO	Genetic intestinal disease	Congenital short bowel syndrome
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	1153794	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Congenital short bowel syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	1153795	\N	\N	EFO	3	EFO	digestive system disease	Congenital short bowel syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	1153796	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Congenital short bowel syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	2036376	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital short bowel syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	2036377	\N	\N	EFO	4	EFO	disease	Congenital short bowel syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	2036378	\N	\N	EFO	4	EFO	genetic disorder	Congenital short bowel syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	3186755	\N	\N	EFO	5	EFO	genetic disorder	Congenital short bowel syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	5182054	\N	\N	EFO	7	EFO	disposition	Congenital short bowel syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	4394075	\N	\N	EFO	6	EFO	disease	Congenital short bowel syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	5877017	\N	\N	EFO	8	EFO	material property	Congenital short bowel syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2301	"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." []	6470244	\N	\N	EFO	9	EFO	experimental factor	Congenital short bowel syndrome
Orphanet:2306	\N	\N	"" []	Orphanet:2306	"" []	74789	\N	\N	EFO	0	EFO	Isotretinoin-like syndrome	Isotretinoin-like syndrome
Orphanet:330197	Orphanet:2306	\N	"" []	Orphanet:2306	"" []	216945	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Isotretinoin-like syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2306	"" []	571542	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Isotretinoin-like syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2306	"" []	1153797	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Isotretinoin-like syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2306	"" []	2036379	\N	\N	EFO	4	EFO	genetic disorder	Isotretinoin-like syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2306	"" []	3186758	\N	\N	EFO	5	EFO	disease	Isotretinoin-like syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2306	"" []	4394078	\N	\N	EFO	6	EFO	disposition	Isotretinoin-like syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2306	"" []	5412374	\N	\N	EFO	7	EFO	material property	Isotretinoin-like syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2306	"" []	6149283	\N	\N	EFO	8	EFO	experimental factor	Isotretinoin-like syndrome
Orphanet:2307	\N	\N	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	74790	\N	\N	EFO	0	EFO	IVIC syndrome	IVIC syndrome
Orphanet:404574	Orphanet:2307	\N	"" []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	216946	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	IVIC syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	571543	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	IVIC syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	571544	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	IVIC syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	1153798	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	IVIC syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	1153799	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	IVIC syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	2036380	\N	\N	EFO	4	EFO	Rare genetic bone disease	IVIC syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	2036381	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	IVIC syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	2036382	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	IVIC syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	3186759	\N	\N	EFO	5	EFO	genetic disorder	IVIC syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	3186760	\N	\N	EFO	5	EFO	bone disease	IVIC syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	3186761	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	IVIC syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	4394081	\N	\N	EFO	6	EFO	genetic disorder	IVIC syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	5182055	\N	\N	EFO	7	EFO	disease	IVIC syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	4394080	\N	\N	EFO	6	EFO	skeletal system disease	IVIC syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	5997437	\N	\N	EFO	8	EFO	disposition	IVIC syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	5412376	\N	\N	EFO	7	EFO	disease	IVIC syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	6550842	\N	\N	EFO	9	EFO	material property	IVIC syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2307	"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." []	6889149	\N	\N	EFO	10	EFO	experimental factor	IVIC syndrome
Orphanet:2308	\N	\N	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	74791	\N	\N	EFO	0	EFO	Jacobsen syndrome	Jacobsen syndrome
Orphanet:262092	Orphanet:2308	\N	"" []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	216947	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 11	Jacobsen syndrome
Orphanet:98578	Orphanet:2308	\N	"" []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	216948	\N	\N	EFO	1	EFO	Ptosis	Jacobsen syndrome
Orphanet:261816	Orphanet:262092	\N	"" []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	571545	\N	\N	EFO	2	EFO	Partial deletion of chromosome 11	Jacobsen syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	571546	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Jacobsen syndrome
Orphanet:98142	Orphanet:261816	\N	"" []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	1153800	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Jacobsen syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	1153801	\N	\N	EFO	3	EFO	Rare palpebral disease	Jacobsen syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	2036383	\N	\N	EFO	4	EFO	Autosomal monosomy	Jacobsen syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	2036384	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Jacobsen syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	3186763	\N	\N	EFO	5	EFO	Autosomal anomaly	Jacobsen syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	3186764	\N	\N	EFO	5	EFO	Rare genetic eye disease	Jacobsen syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	4394082	\N	\N	EFO	6	EFO	Chromosomal anomaly	Jacobsen syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	4394083	\N	\N	EFO	6	EFO	genetic disorder	Jacobsen syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	4394084	\N	\N	EFO	6	EFO	eye disease	Jacobsen syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	5412377	\N	\N	EFO	7	EFO	genetic disorder	Jacobsen syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	6149285	\N	\N	EFO	8	EFO	disease	Jacobsen syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	5412379	\N	\N	EFO	7	EFO	disease	Jacobsen syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	6550843	\N	\N	EFO	9	EFO	disposition	Jacobsen syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	6889150	\N	\N	EFO	10	EFO	material property	Jacobsen syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2308	"Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." []	7085916	\N	\N	EFO	11	EFO	experimental factor	Jacobsen syndrome
Orphanet:230839	\N	\N	"" []	Orphanet:230839	"" []	74792	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome due to tenascin-X deficiency	Ehlers-Danlos syndrome due to tenascin-X deficiency
Orphanet:167762	Orphanet:230839	\N	"" []	Orphanet:230839	"" []	216949	\N	\N	EFO	1	EFO	Rare disease with dentinogenesis imperfecta	Ehlers-Danlos syndrome due to tenascin-X deficiency
Orphanet:98249	Orphanet:230839	\N	"" []	Orphanet:230839	"" []	216950	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome due to tenascin-X deficiency
Orphanet:77830	Orphanet:167762	\N	"" []	Orphanet:230839	"" []	571547	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Ehlers-Danlos syndrome due to tenascin-X deficiency
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:230839	"" []	571548	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome due to tenascin-X deficiency
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:230839	"" []	571549	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome due to tenascin-X deficiency
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:230839	"" []	571550	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome due to tenascin-X deficiency
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:230839	"" []	571551	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome due to tenascin-X deficiency
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230839	"" []	1153802	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome due to tenascin-X deficiency
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:230839	"" []	1153803	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome due to tenascin-X deficiency
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:230839	"" []	1153804	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome due to tenascin-X deficiency
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:230839	"" []	1153805	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome due to tenascin-X deficiency
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230839	"" []	1153806	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome due to tenascin-X deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230839	"" []	4394086	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome due to tenascin-X deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230839	"" []	2036386	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome due to tenascin-X deficiency
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:230839	"" []	2036387	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome due to tenascin-X deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:230839	"" []	5059777	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome due to tenascin-X deficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230839	"" []	3186767	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome due to tenascin-X deficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:230839	"" []	3186768	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome due to tenascin-X deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:230839	"" []	5877018	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome due to tenascin-X deficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230839	"" []	4394087	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome due to tenascin-X deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:230839	"" []	6470245	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome due to tenascin-X deficiency
Orphanet:230845	\N	\N	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	74793	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, vascular-like type	Ehlers-Danlos syndrome, vascular-like type
Orphanet:233655	Orphanet:230845	\N	"" []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	216951	\N	\N	EFO	1	EFO	Rare genetic vascular disease	Ehlers-Danlos syndrome, vascular-like type
Orphanet:98249	Orphanet:230845	\N	"" []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	216952	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, vascular-like type
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	571552	\N	\N	EFO	2	EFO	genetic disorder	Ehlers-Danlos syndrome, vascular-like type
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	571553	\N	\N	EFO	2	EFO	vascular disease	Ehlers-Danlos syndrome, vascular-like type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	571554	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, vascular-like type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	571555	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, vascular-like type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	571556	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, vascular-like type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	571557	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, vascular-like type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	4394089	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, vascular-like type
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	1153808	\N	\N	EFO	3	EFO	cardiovascular disease	Ehlers-Danlos syndrome, vascular-like type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	1153809	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, vascular-like type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	1153810	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, vascular-like type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	1153811	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, vascular-like type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	1153812	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, vascular-like type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	5028416	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, vascular-like type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	2036389	\N	\N	EFO	4	EFO	disease	Ehlers-Danlos syndrome, vascular-like type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	2036390	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, vascular-like type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	2036391	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, vascular-like type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	5817577	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, vascular-like type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	3186771	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, vascular-like type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	3186772	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, vascular-like type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	6409967	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, vascular-like type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230845	"Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." []	4394090	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, vascular-like type
Orphanet:230851	\N	\N	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	74794	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, cardiac valvular type	Ehlers-Danlos syndrome, cardiac valvular type
Orphanet:156532	Orphanet:230851	\N	"" []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	216953	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Ehlers-Danlos syndrome, cardiac valvular type
Orphanet:98249	Orphanet:230851	\N	"" []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	216954	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, cardiac valvular type
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	571558	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Ehlers-Danlos syndrome, cardiac valvular type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	571559	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, cardiac valvular type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	571560	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, cardiac valvular type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	571561	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, cardiac valvular type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	571562	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, cardiac valvular type
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	1153813	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, cardiac valvular type
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	1153814	\N	\N	EFO	3	EFO	heart disease	Ehlers-Danlos syndrome, cardiac valvular type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	1153815	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, cardiac valvular type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	1153816	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, cardiac valvular type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	1153817	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, cardiac valvular type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	1153818	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, cardiac valvular type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	4394092	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, cardiac valvular type
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	2036394	\N	\N	EFO	4	EFO	cardiovascular disease	Ehlers-Danlos syndrome, cardiac valvular type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	2036395	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, cardiac valvular type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	2036396	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, cardiac valvular type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	5059779	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, cardiac valvular type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	3186774	\N	\N	EFO	5	EFO	disease	Ehlers-Danlos syndrome, cardiac valvular type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	3186776	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, cardiac valvular type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	3186777	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, cardiac valvular type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	5877020	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, cardiac valvular type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	4394093	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, cardiac valvular type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:230851	"Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." []	6470246	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, cardiac valvular type
Orphanet:230857	\N	\N	"" []	Orphanet:230857	"" []	74795	\N	\N	EFO	0	EFO	Ehlers-Danlos/osteogenesis imperfecta syndrome	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:93446	Orphanet:230857	\N	"" []	Orphanet:230857	"" []	216955	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:98249	Orphanet:230857	\N	"" []	Orphanet:230857	"" []	216956	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:230857	"" []	571563	\N	\N	EFO	2	EFO	Primary bone dysplasia	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:230857	"" []	571564	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:230857	"" []	571565	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:230857	"" []	571566	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:230857	"" []	571567	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:230857	"" []	1153819	\N	\N	EFO	3	EFO	Rare genetic bone disease	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:230857	"" []	1153820	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:230857	"" []	1153821	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:230857	"" []	1153822	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:230857	"" []	1153823	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos/osteogenesis imperfecta syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230857	"" []	1153824	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos/osteogenesis imperfecta syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230857	"" []	2036397	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos/osteogenesis imperfecta syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:230857	"" []	2036398	\N	\N	EFO	4	EFO	bone disease	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:230857	"" []	2036399	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos/osteogenesis imperfecta syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230857	"" []	3186780	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:230857	"" []	2036401	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos/osteogenesis imperfecta syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230857	"" []	4133580	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos/osteogenesis imperfecta syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:230857	"" []	3186779	\N	\N	EFO	5	EFO	skeletal system disease	Ehlers-Danlos/osteogenesis imperfecta syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:230857	"" []	3186781	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos/osteogenesis imperfecta syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:230857	"" []	3186782	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos/osteogenesis imperfecta syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:230857	"" []	5059780	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos/osteogenesis imperfecta syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230857	"" []	4394094	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos/osteogenesis imperfecta syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:230857	"" []	4394095	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos/osteogenesis imperfecta syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:230857	"" []	5877021	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos/osteogenesis imperfecta syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:230857	"" []	6470247	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos/osteogenesis imperfecta syndrome
Orphanet:2309	\N	\N	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	74796	\N	\N	EFO	0	EFO	Pachyonychia congenita	Pachyonychia congenita
Orphanet:139027	Orphanet:2309	\N	"" []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	216957	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Pachyonychia congenita
Orphanet:79370	Orphanet:2309	\N	"" []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	216958	\N	\N	EFO	1	EFO	Syndromic nail anomaly	Pachyonychia congenita
Orphanet:98353	Orphanet:2309	\N	"" []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	216959	\N	\N	EFO	1	EFO	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	Pachyonychia congenita
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	571568	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Pachyonychia congenita
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	571569	\N	\N	EFO	2	EFO	Genetic nail anomaly	Pachyonychia congenita
Orphanet:307871	Orphanet:98353	\N	"" []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	571570	\N	\N	EFO	2	EFO	Disease with focal palmoplantar keratoderma as a major feature	Pachyonychia congenita
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	1153825	\N	\N	EFO	3	EFO	genetic disorder	Pachyonychia congenita
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	1153826	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Pachyonychia congenita
Orphanet:307837	Orphanet:307871	\N	"" []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	1153827	\N	\N	EFO	3	EFO	Focal palmoplantar keratoderma	Pachyonychia congenita
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	5877023	\N	\N	EFO	8	EFO	disease	Pachyonychia congenita
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	2036404	\N	\N	EFO	4	EFO	Rare genetic skin disease	Pachyonychia congenita
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	2036405	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Pachyonychia congenita
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	6378858	\N	\N	EFO	9	EFO	disposition	Pachyonychia congenita
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	5412384	\N	\N	EFO	7	EFO	genetic disorder	Pachyonychia congenita
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	5412385	\N	\N	EFO	7	EFO	skin disease	Pachyonychia congenita
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	3186787	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Pachyonychia congenita
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	6778653	\N	\N	EFO	10	EFO	material property	Pachyonychia congenita
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	5877024	\N	\N	EFO	8	EFO	disease	Pachyonychia congenita
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	4394100	\N	\N	EFO	6	EFO	Rare genetic skin disease	Pachyonychia congenita
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2309	"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." []	7029863	\N	\N	EFO	11	EFO	experimental factor	Pachyonychia congenita
Orphanet:2310	\N	\N	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	74797	\N	\N	EFO	0	EFO	Absence deformity of leg - cataract	Absence deformity of leg - cataract
Orphanet:404574	Orphanet:2310	\N	"" []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	216960	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Absence deformity of leg - cataract
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	571571	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Absence deformity of leg - cataract
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	571572	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Absence deformity of leg - cataract
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	1153828	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Absence deformity of leg - cataract
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	1153829	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Absence deformity of leg - cataract
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	2036406	\N	\N	EFO	4	EFO	Rare genetic bone disease	Absence deformity of leg - cataract
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	2036407	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Absence deformity of leg - cataract
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	2036408	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Absence deformity of leg - cataract
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	3186788	\N	\N	EFO	5	EFO	genetic disorder	Absence deformity of leg - cataract
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	3186789	\N	\N	EFO	5	EFO	bone disease	Absence deformity of leg - cataract
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	3186790	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Absence deformity of leg - cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	4394103	\N	\N	EFO	6	EFO	genetic disorder	Absence deformity of leg - cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	5182060	\N	\N	EFO	7	EFO	disease	Absence deformity of leg - cataract
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	4394102	\N	\N	EFO	6	EFO	skeletal system disease	Absence deformity of leg - cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	5997441	\N	\N	EFO	8	EFO	disposition	Absence deformity of leg - cataract
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	5412387	\N	\N	EFO	7	EFO	disease	Absence deformity of leg - cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	6550844	\N	\N	EFO	9	EFO	material property	Absence deformity of leg - cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2310	"Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." []	6889151	\N	\N	EFO	10	EFO	experimental factor	Absence deformity of leg - cataract
Orphanet:231013	\N	\N	"" []	Orphanet:231013	"" []	74798	\N	\N	EFO	0	EFO	Congenital trigeminal anesthesia	Congenital trigeminal anesthesia
Orphanet:183616	Orphanet:231013	\N	"" []	Orphanet:231013	"" []	216961	\N	\N	EFO	1	EFO	Genetic neuro-ophthalmological disease	Congenital trigeminal anesthesia
Orphanet:98497	Orphanet:231013	\N	"" []	Orphanet:231013	"" []	216962	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Congenital trigeminal anesthesia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:231013	"" []	571573	\N	\N	EFO	2	EFO	Rare genetic eye disease	Congenital trigeminal anesthesia
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:231013	"" []	571574	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Congenital trigeminal anesthesia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231013	"" []	1153830	\N	\N	EFO	3	EFO	genetic disorder	Congenital trigeminal anesthesia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:231013	"" []	1153831	\N	\N	EFO	3	EFO	eye disease	Congenital trigeminal anesthesia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231013	"" []	1153832	\N	\N	EFO	3	EFO	genetic disorder	Congenital trigeminal anesthesia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231013	"" []	2036409	\N	\N	EFO	4	EFO	disease	Congenital trigeminal anesthesia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231013	"" []	2036410	\N	\N	EFO	4	EFO	disease	Congenital trigeminal anesthesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231013	"" []	3186792	\N	\N	EFO	5	EFO	disposition	Congenital trigeminal anesthesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231013	"" []	4394104	\N	\N	EFO	6	EFO	material property	Congenital trigeminal anesthesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231013	"" []	5412388	\N	\N	EFO	7	EFO	experimental factor	Congenital trigeminal anesthesia
Orphanet:231031	\N	\N	"" []	Orphanet:231031	"" []	74799	\N	\N	EFO	0	EFO	Erythema palmaris hereditarium	Erythema palmaris hereditarium
Orphanet:79385	Orphanet:231031	\N	"" []	Orphanet:231031	"" []	216963	\N	\N	EFO	1	EFO	Unclassified genetic skin disorder	Erythema palmaris hereditarium
Orphanet:68346	Orphanet:79385	\N	"" []	Orphanet:231031	"" []	571575	\N	\N	EFO	2	EFO	Rare genetic skin disease	Erythema palmaris hereditarium
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231031	"" []	1153833	\N	\N	EFO	3	EFO	genetic disorder	Erythema palmaris hereditarium
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:231031	"" []	1153834	\N	\N	EFO	3	EFO	skin disease	Erythema palmaris hereditarium
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231031	"" []	2036411	\N	\N	EFO	4	EFO	disease	Erythema palmaris hereditarium
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231031	"" []	2036412	\N	\N	EFO	4	EFO	disease	Erythema palmaris hereditarium
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231031	"" []	3186793	\N	\N	EFO	5	EFO	disposition	Erythema palmaris hereditarium
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231031	"" []	4394105	\N	\N	EFO	6	EFO	material property	Erythema palmaris hereditarium
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231031	"" []	5412389	\N	\N	EFO	7	EFO	experimental factor	Erythema palmaris hereditarium
Orphanet:231040	\N	\N	"" []	Orphanet:231040	"" []	74800	\N	\N	EFO	0	EFO	Familial generalized lentiginosis	Familial generalized lentiginosis
Orphanet:183466	Orphanet:231040	\N	"" []	Orphanet:231040	"" []	216964	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Familial generalized lentiginosis
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:231040	"" []	571576	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Familial generalized lentiginosis
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:231040	"" []	1153835	\N	\N	EFO	3	EFO	Rare genetic skin disease	Familial generalized lentiginosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231040	"" []	2036413	\N	\N	EFO	4	EFO	genetic disorder	Familial generalized lentiginosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:231040	"" []	2036414	\N	\N	EFO	4	EFO	skin disease	Familial generalized lentiginosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231040	"" []	3186794	\N	\N	EFO	5	EFO	disease	Familial generalized lentiginosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231040	"" []	3186795	\N	\N	EFO	5	EFO	disease	Familial generalized lentiginosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231040	"" []	4394106	\N	\N	EFO	6	EFO	disposition	Familial generalized lentiginosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231040	"" []	5412390	\N	\N	EFO	7	EFO	material property	Familial generalized lentiginosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231040	"" []	6149288	\N	\N	EFO	8	EFO	experimental factor	Familial generalized lentiginosis
Orphanet:2311	\N	\N	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	74801	\N	\N	EFO	0	EFO	Autosomal recessive spondylocostal dysostosis	Autosomal recessive spondylocostal dysostosis
Orphanet:309505	Orphanet:2311	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	216965	\N	\N	EFO	1	EFO	Disorder of fucoglycosan synthesis	Autosomal recessive spondylocostal dysostosis
Orphanet:371195	Orphanet:2311	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	216966	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation-related bone disorder	Autosomal recessive spondylocostal dysostosis
Orphanet:93454	Orphanet:2311	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	216967	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Autosomal recessive spondylocostal dysostosis
Orphanet:309447	Orphanet:309505	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	571577	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Autosomal recessive spondylocostal dysostosis
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	571578	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Autosomal recessive spondylocostal dysostosis
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	571579	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Autosomal recessive spondylocostal dysostosis
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	571580	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Autosomal recessive spondylocostal dysostosis
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	1153836	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Autosomal recessive spondylocostal dysostosis
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	1153837	\N	\N	EFO	3	EFO	Rare genetic bone disease	Autosomal recessive spondylocostal dysostosis
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	1153838	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Autosomal recessive spondylocostal dysostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	1153839	\N	\N	EFO	3	EFO	Rare genetic bone disease	Autosomal recessive spondylocostal dysostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	1153840	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Autosomal recessive spondylocostal dysostosis
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	2036415	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive spondylocostal dysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	2036416	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive spondylocostal dysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	2036417	\N	\N	EFO	4	EFO	bone disease	Autosomal recessive spondylocostal dysostosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	2036418	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive spondylocostal dysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	2036419	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive spondylocostal dysostosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	3186796	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive spondylocostal dysostosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	3186797	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive spondylocostal dysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	4394107	\N	\N	EFO	6	EFO	disease	Autosomal recessive spondylocostal dysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	3186799	\N	\N	EFO	5	EFO	skeletal system disease	Autosomal recessive spondylocostal dysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	3186800	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive spondylocostal dysostosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	4394108	\N	\N	EFO	6	EFO	disease	Autosomal recessive spondylocostal dysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	5182061	\N	\N	EFO	7	EFO	disposition	Autosomal recessive spondylocostal dysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	4394110	\N	\N	EFO	6	EFO	disease	Autosomal recessive spondylocostal dysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	5997442	\N	\N	EFO	8	EFO	material property	Autosomal recessive spondylocostal dysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2311	"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." []	6550845	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive spondylocostal dysostosis
Orphanet:231108	\N	\N	"" []	Orphanet:231108	"" []	74802	\N	\N	EFO	0	EFO	Familial rhabdoid tumor	Familial rhabdoid tumor
Orphanet:271832	Orphanet:231108	\N	"" []	Orphanet:231108	"" []	216968	\N	\N	EFO	1	EFO	Genetic soft tissue tumor	Familial rhabdoid tumor
Orphanet:68336	Orphanet:271832	\N	"" []	Orphanet:231108	"" []	571581	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial rhabdoid tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231108	"" []	1153841	\N	\N	EFO	3	EFO	genetic disorder	Familial rhabdoid tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:231108	"" []	1153842	\N	\N	EFO	3	EFO	neoplasm	Familial rhabdoid tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231108	"" []	2036420	\N	\N	EFO	4	EFO	disease	Familial rhabdoid tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231108	"" []	2036421	\N	\N	EFO	4	EFO	disease	Familial rhabdoid tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231108	"" []	3186801	\N	\N	EFO	5	EFO	disposition	Familial rhabdoid tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231108	"" []	4394111	\N	\N	EFO	6	EFO	material property	Familial rhabdoid tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231108	"" []	5412392	\N	\N	EFO	7	EFO	experimental factor	Familial rhabdoid tumor
Orphanet:231117	\N	\N	"" []	Orphanet:231117	"" []	74803	\N	\N	EFO	0	EFO	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:116	Orphanet:231117	\N	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	Orphanet:231117	"" []	216969	\N	\N	EFO	1	EFO	Beckwith-Wiedemann syndrome	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:156207	Orphanet:116	\N	"" []	Orphanet:231117	"" []	571582	\N	\N	EFO	2	EFO	Macroglossia	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:156237	Orphanet:116	\N	"" []	Orphanet:231117	"" []	571583	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:183422	Orphanet:116	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:231117	"" []	571584	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:183595	Orphanet:116	\N	"" []	Orphanet:231117	"" []	571585	\N	\N	EFO	2	EFO	Genetic renal tumor	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:217595	Orphanet:116	\N	"" []	Orphanet:231117	"" []	571586	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:93460	Orphanet:116	\N	"" []	Orphanet:231117	"" []	571587	\N	\N	EFO	2	EFO	Overgrowth syndrome	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:93547	Orphanet:116	\N	"" []	Orphanet:231117	"" []	571588	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:231117	"" []	1153843	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:231117	"" []	1153844	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:231117	"" []	1153845	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:231117	"" []	1153846	\N	\N	EFO	3	EFO	urogenital neoplasm	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:231117	"" []	1153847	\N	\N	EFO	3	EFO	Rare genetic tumor	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:231117	"" []	1153848	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:231117	"" []	1153849	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:231117	"" []	1153850	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:231117	"" []	3186803	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:231117	"" []	2036423	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231117	"" []	2036424	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:231117	"" []	2036425	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231117	"" []	2036426	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:231117	"" []	2036427	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:231117	"" []	2036428	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:231117	"" []	2036429	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:231117	"" []	2036430	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:231117	"" []	2036431	\N	\N	EFO	4	EFO	Rare genetic renal disease	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231117	"" []	4133582	\N	\N	EFO	6	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231117	"" []	5182062	\N	\N	EFO	7	EFO	disease	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231117	"" []	3186805	\N	\N	EFO	5	EFO	disease	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231117	"" []	3186806	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:231117	"" []	3186807	\N	\N	EFO	5	EFO	heart disease	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231117	"" []	3186808	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231117	"" []	5877025	\N	\N	EFO	8	EFO	disposition	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:231117	"" []	4394114	\N	\N	EFO	6	EFO	cardiovascular disease	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231117	"" []	6470249	\N	\N	EFO	9	EFO	material property	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231117	"" []	5412394	\N	\N	EFO	7	EFO	disease	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231117	"" []	6848422	\N	\N	EFO	10	EFO	experimental factor	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Orphanet:231120	\N	\N	"" []	Orphanet:231120	"" []	74804	\N	\N	EFO	0	EFO	Beckwith-Wiedemann syndrome due to CDKN1C mutation	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:116	Orphanet:231120	\N	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	Orphanet:231120	"" []	216970	\N	\N	EFO	1	EFO	Beckwith-Wiedemann syndrome	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:156207	Orphanet:116	\N	"" []	Orphanet:231120	"" []	571589	\N	\N	EFO	2	EFO	Macroglossia	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:156237	Orphanet:116	\N	"" []	Orphanet:231120	"" []	571590	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:183422	Orphanet:116	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:231120	"" []	571591	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:183595	Orphanet:116	\N	"" []	Orphanet:231120	"" []	571592	\N	\N	EFO	2	EFO	Genetic renal tumor	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:217595	Orphanet:116	\N	"" []	Orphanet:231120	"" []	571593	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:93460	Orphanet:116	\N	"" []	Orphanet:231120	"" []	571594	\N	\N	EFO	2	EFO	Overgrowth syndrome	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:93547	Orphanet:116	\N	"" []	Orphanet:231120	"" []	571595	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:231120	"" []	1153851	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:231120	"" []	1153852	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:231120	"" []	1153853	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:231120	"" []	1153854	\N	\N	EFO	3	EFO	urogenital neoplasm	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:231120	"" []	1153855	\N	\N	EFO	3	EFO	Rare genetic tumor	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:231120	"" []	1153856	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:231120	"" []	1153857	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:231120	"" []	1153858	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:231120	"" []	3186810	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:231120	"" []	2036433	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231120	"" []	2036434	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:231120	"" []	2036435	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231120	"" []	2036436	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:231120	"" []	2036437	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:231120	"" []	2036438	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:231120	"" []	2036439	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:231120	"" []	2036440	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:231120	"" []	2036441	\N	\N	EFO	4	EFO	Rare genetic renal disease	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231120	"" []	4133583	\N	\N	EFO	6	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231120	"" []	5182064	\N	\N	EFO	7	EFO	disease	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231120	"" []	3186812	\N	\N	EFO	5	EFO	disease	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231120	"" []	3186813	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:231120	"" []	3186814	\N	\N	EFO	5	EFO	heart disease	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231120	"" []	3186815	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to CDKN1C mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231120	"" []	5877026	\N	\N	EFO	8	EFO	disposition	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:231120	"" []	4394117	\N	\N	EFO	6	EFO	cardiovascular disease	Beckwith-Wiedemann syndrome due to CDKN1C mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231120	"" []	6470250	\N	\N	EFO	9	EFO	material property	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231120	"" []	5412396	\N	\N	EFO	7	EFO	disease	Beckwith-Wiedemann syndrome due to CDKN1C mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231120	"" []	6848423	\N	\N	EFO	10	EFO	experimental factor	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Orphanet:231127	\N	\N	"" []	Orphanet:231127	"" []	74805	\N	\N	EFO	0	EFO	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:116	Orphanet:231127	\N	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	Orphanet:231127	"" []	216971	\N	\N	EFO	1	EFO	Beckwith-Wiedemann syndrome	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:261947	Orphanet:231127	\N	"" []	Orphanet:231127	"" []	216972	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 11	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:156207	Orphanet:116	\N	"" []	Orphanet:231127	"" []	571596	\N	\N	EFO	2	EFO	Macroglossia	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:156237	Orphanet:116	\N	"" []	Orphanet:231127	"" []	571597	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:183422	Orphanet:116	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:231127	"" []	571598	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:183595	Orphanet:116	\N	"" []	Orphanet:231127	"" []	571599	\N	\N	EFO	2	EFO	Genetic renal tumor	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:217595	Orphanet:116	\N	"" []	Orphanet:231127	"" []	571600	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:93460	Orphanet:116	\N	"" []	Orphanet:231127	"" []	571601	\N	\N	EFO	2	EFO	Overgrowth syndrome	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:93547	Orphanet:116	\N	"" []	Orphanet:231127	"" []	571602	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:261816	Orphanet:261947	\N	"" []	Orphanet:231127	"" []	571603	\N	\N	EFO	2	EFO	Partial deletion of chromosome 11	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:231127	"" []	1153859	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:231127	"" []	1153860	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:231127	"" []	1153861	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:231127	"" []	1153862	\N	\N	EFO	3	EFO	urogenital neoplasm	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:231127	"" []	1153863	\N	\N	EFO	3	EFO	Rare genetic tumor	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:231127	"" []	1153864	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:231127	"" []	1153865	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:231127	"" []	1153866	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:98142	Orphanet:261816	\N	"" []	Orphanet:231127	"" []	1153867	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:231127	"" []	3186817	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:231127	"" []	2036443	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231127	"" []	2036444	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:231127	"" []	2036445	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231127	"" []	2036446	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:231127	"" []	2036447	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:231127	"" []	2036448	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:231127	"" []	2036449	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:231127	"" []	2036450	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:231127	"" []	2036451	\N	\N	EFO	4	EFO	Rare genetic renal disease	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:231127	"" []	2036452	\N	\N	EFO	4	EFO	Autosomal monosomy	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231127	"" []	4133584	\N	\N	EFO	6	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231127	"" []	6149293	\N	\N	EFO	8	EFO	disease	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231127	"" []	3186819	\N	\N	EFO	5	EFO	disease	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231127	"" []	3186820	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:231127	"" []	3186821	\N	\N	EFO	5	EFO	heart disease	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231127	"" []	3186822	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:231127	"" []	3186823	\N	\N	EFO	5	EFO	Autosomal anomaly	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231127	"" []	6409968	\N	\N	EFO	9	EFO	disposition	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:231127	"" []	4394120	\N	\N	EFO	6	EFO	cardiovascular disease	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:231127	"" []	4394121	\N	\N	EFO	6	EFO	Chromosomal anomaly	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231127	"" []	6807820	\N	\N	EFO	10	EFO	material property	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231127	"" []	5412398	\N	\N	EFO	7	EFO	disease	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231127	"" []	5412399	\N	\N	EFO	7	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231127	"" []	7048615	\N	\N	EFO	11	EFO	experimental factor	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Orphanet:231130	\N	\N	"" []	Orphanet:231130	"" []	74806	\N	\N	EFO	0	EFO	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:116	Orphanet:231130	\N	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	Orphanet:231130	"" []	216973	\N	\N	EFO	1	EFO	Beckwith-Wiedemann syndrome	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:263708	Orphanet:231130	\N	"" []	Orphanet:231130	"" []	216974	\N	\N	EFO	1	EFO	Complex chromosomal rearrangement	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:156207	Orphanet:116	\N	"" []	Orphanet:231130	"" []	571604	\N	\N	EFO	2	EFO	Macroglossia	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:156237	Orphanet:116	\N	"" []	Orphanet:231130	"" []	571605	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:183422	Orphanet:116	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:231130	"" []	571606	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:183595	Orphanet:116	\N	"" []	Orphanet:231130	"" []	571607	\N	\N	EFO	2	EFO	Genetic renal tumor	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:217595	Orphanet:116	\N	"" []	Orphanet:231130	"" []	571608	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:93460	Orphanet:116	\N	"" []	Orphanet:231130	"" []	571609	\N	\N	EFO	2	EFO	Overgrowth syndrome	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:93547	Orphanet:116	\N	"" []	Orphanet:231130	"" []	571610	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:98127	Orphanet:263708	\N	"" []	Orphanet:231130	"" []	571611	\N	\N	EFO	2	EFO	Autosomal anomaly	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:231130	"" []	1153868	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:231130	"" []	1153869	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:231130	"" []	1153870	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:231130	"" []	1153871	\N	\N	EFO	3	EFO	urogenital neoplasm	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:231130	"" []	1153872	\N	\N	EFO	3	EFO	Rare genetic tumor	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:231130	"" []	1153873	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:231130	"" []	1153874	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:231130	"" []	1153875	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:231130	"" []	1153876	\N	\N	EFO	3	EFO	Chromosomal anomaly	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:231130	"" []	3186825	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:231130	"" []	2036454	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231130	"" []	2036455	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:231130	"" []	2036456	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231130	"" []	2036457	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:231130	"" []	2036458	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:231130	"" []	2036459	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:231130	"" []	2036460	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:231130	"" []	2036461	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:231130	"" []	2036462	\N	\N	EFO	4	EFO	Rare genetic renal disease	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231130	"" []	2036463	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231130	"" []	4133585	\N	\N	EFO	6	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231130	"" []	5182068	\N	\N	EFO	7	EFO	disease	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231130	"" []	3186827	\N	\N	EFO	5	EFO	disease	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231130	"" []	3186828	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:231130	"" []	3186829	\N	\N	EFO	5	EFO	heart disease	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231130	"" []	3186830	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231130	"" []	5877028	\N	\N	EFO	8	EFO	disposition	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:231130	"" []	4394124	\N	\N	EFO	6	EFO	cardiovascular disease	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231130	"" []	6470252	\N	\N	EFO	9	EFO	material property	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231130	"" []	5412401	\N	\N	EFO	7	EFO	disease	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231130	"" []	6848425	\N	\N	EFO	10	EFO	experimental factor	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Orphanet:231137	\N	\N	"" []	Orphanet:231137	"" []	74807	\N	\N	EFO	0	EFO	Silver-Russell syndrome due to 7p11.2p13 microduplication	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:262749	Orphanet:231137	\N	"" []	Orphanet:231137	"" []	216975	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 7	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:813	Orphanet:231137	\N	"" []	Orphanet:231137	"" []	216976	\N	\N	EFO	1	EFO	Silver-Russell syndrome	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:262633	Orphanet:262749	\N	"" []	Orphanet:231137	"" []	571612	\N	\N	EFO	2	EFO	Partial duplication of chromosome 7	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:183422	Orphanet:813	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:231137	"" []	571613	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:183570	Orphanet:813	\N	"" []	Orphanet:231137	"" []	571614	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:330197	Orphanet:813	\N	"" []	Orphanet:231137	"" []	571615	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:98132	Orphanet:262633	\N	"" []	Orphanet:231137	"" []	1153877	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:231137	"" []	1153878	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:231137	"" []	1153879	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:231137	"" []	1153880	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:231137	"" []	2036464	\N	\N	EFO	4	EFO	Autosomal trisomy	Silver-Russell syndrome due to 7p11.2p13 microduplication
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231137	"" []	2036465	\N	\N	EFO	4	EFO	genetic disorder	Silver-Russell syndrome due to 7p11.2p13 microduplication
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231137	"" []	3186833	\N	\N	EFO	5	EFO	genetic disorder	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:231137	"" []	2036467	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:231137	"" []	3186831	\N	\N	EFO	5	EFO	Autosomal anomaly	Silver-Russell syndrome due to 7p11.2p13 microduplication
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231137	"" []	6149295	\N	\N	EFO	8	EFO	disease	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:231137	"" []	4394125	\N	\N	EFO	6	EFO	Chromosomal anomaly	Silver-Russell syndrome due to 7p11.2p13 microduplication
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231137	"" []	6409969	\N	\N	EFO	9	EFO	disposition	Silver-Russell syndrome due to 7p11.2p13 microduplication
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231137	"" []	5412402	\N	\N	EFO	7	EFO	genetic disorder	Silver-Russell syndrome due to 7p11.2p13 microduplication
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231137	"" []	6807821	\N	\N	EFO	10	EFO	material property	Silver-Russell syndrome due to 7p11.2p13 microduplication
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231137	"" []	7048616	\N	\N	EFO	11	EFO	experimental factor	Silver-Russell syndrome due to 7p11.2p13 microduplication
Orphanet:231140	\N	\N	"" []	Orphanet:231140	"" []	74808	\N	\N	EFO	0	EFO	Silver-Russell syndrome due to imprinting defect of 11p15	Silver-Russell syndrome due to imprinting defect of 11p15
Orphanet:813	Orphanet:231140	\N	"" []	Orphanet:231140	"" []	216977	\N	\N	EFO	1	EFO	Silver-Russell syndrome	Silver-Russell syndrome due to imprinting defect of 11p15
Orphanet:183422	Orphanet:813	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:231140	"" []	571616	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Silver-Russell syndrome due to imprinting defect of 11p15
Orphanet:183570	Orphanet:813	\N	"" []	Orphanet:231140	"" []	571617	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Silver-Russell syndrome due to imprinting defect of 11p15
Orphanet:330197	Orphanet:813	\N	"" []	Orphanet:231140	"" []	571618	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Silver-Russell syndrome due to imprinting defect of 11p15
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:231140	"" []	1153881	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Silver-Russell syndrome due to imprinting defect of 11p15
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:231140	"" []	1153882	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome due to imprinting defect of 11p15
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:231140	"" []	1153883	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Silver-Russell syndrome due to imprinting defect of 11p15
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231140	"" []	2036468	\N	\N	EFO	4	EFO	genetic disorder	Silver-Russell syndrome due to imprinting defect of 11p15
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231140	"" []	3186835	\N	\N	EFO	5	EFO	genetic disorder	Silver-Russell syndrome due to imprinting defect of 11p15
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:231140	"" []	2036470	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome due to imprinting defect of 11p15
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231140	"" []	4133587	\N	\N	EFO	6	EFO	disease	Silver-Russell syndrome due to imprinting defect of 11p15
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231140	"" []	5182071	\N	\N	EFO	7	EFO	disposition	Silver-Russell syndrome due to imprinting defect of 11p15
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231140	"" []	5997448	\N	\N	EFO	8	EFO	material property	Silver-Russell syndrome due to imprinting defect of 11p15
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231140	"" []	6550851	\N	\N	EFO	9	EFO	experimental factor	Silver-Russell syndrome due to imprinting defect of 11p15
Orphanet:231144	\N	\N	"" []	Orphanet:231144	"" []	74809	\N	\N	EFO	0	EFO	Silver-Russell syndrome due to 11p15 microduplication	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:262785	Orphanet:231144	\N	"" []	Orphanet:231144	"" []	216978	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 11	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:813	Orphanet:231144	\N	"" []	Orphanet:231144	"" []	216979	\N	\N	EFO	1	EFO	Silver-Russell syndrome	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:262653	Orphanet:262785	\N	"" []	Orphanet:231144	"" []	571619	\N	\N	EFO	2	EFO	Partial duplication of chromosome 11	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:183422	Orphanet:813	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:231144	"" []	571620	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:183570	Orphanet:813	\N	"" []	Orphanet:231144	"" []	571621	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:330197	Orphanet:813	\N	"" []	Orphanet:231144	"" []	571622	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:98132	Orphanet:262653	\N	"" []	Orphanet:231144	"" []	1153884	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:231144	"" []	1153885	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:231144	"" []	1153886	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:231144	"" []	1153887	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:231144	"" []	2036471	\N	\N	EFO	4	EFO	Autosomal trisomy	Silver-Russell syndrome due to 11p15 microduplication
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231144	"" []	2036472	\N	\N	EFO	4	EFO	genetic disorder	Silver-Russell syndrome due to 11p15 microduplication
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231144	"" []	3186838	\N	\N	EFO	5	EFO	genetic disorder	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:231144	"" []	2036474	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:231144	"" []	3186836	\N	\N	EFO	5	EFO	Autosomal anomaly	Silver-Russell syndrome due to 11p15 microduplication
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231144	"" []	6149298	\N	\N	EFO	8	EFO	disease	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:231144	"" []	4394128	\N	\N	EFO	6	EFO	Chromosomal anomaly	Silver-Russell syndrome due to 11p15 microduplication
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231144	"" []	6409970	\N	\N	EFO	9	EFO	disposition	Silver-Russell syndrome due to 11p15 microduplication
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231144	"" []	5412405	\N	\N	EFO	7	EFO	genetic disorder	Silver-Russell syndrome due to 11p15 microduplication
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231144	"" []	6807822	\N	\N	EFO	10	EFO	material property	Silver-Russell syndrome due to 11p15 microduplication
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231144	"" []	7048617	\N	\N	EFO	11	EFO	experimental factor	Silver-Russell syndrome due to 11p15 microduplication
Orphanet:231147	\N	\N	"" []	Orphanet:231147	"" []	74810	\N	\N	EFO	0	EFO	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:813	Orphanet:231147	\N	"" []	Orphanet:231147	"" []	216980	\N	\N	EFO	1	EFO	Silver-Russell syndrome	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:98153	Orphanet:231147	\N	"" []	Orphanet:231147	"" []	216981	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:183422	Orphanet:813	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:231147	"" []	571623	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:183570	Orphanet:813	\N	"" []	Orphanet:231147	"" []	571624	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:330197	Orphanet:813	\N	"" []	Orphanet:231147	"" []	571625	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:231147	"" []	571626	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:231147	"" []	1153888	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:231147	"" []	1153889	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:231147	"" []	1153890	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:231147	"" []	1153891	\N	\N	EFO	3	EFO	Autosomal anomaly	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231147	"" []	2036475	\N	\N	EFO	4	EFO	genetic disorder	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231147	"" []	3186840	\N	\N	EFO	5	EFO	genetic disorder	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:231147	"" []	2036477	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:231147	"" []	2036478	\N	\N	EFO	4	EFO	Chromosomal anomaly	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231147	"" []	4133589	\N	\N	EFO	6	EFO	disease	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231147	"" []	3186841	\N	\N	EFO	5	EFO	genetic disorder	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231147	"" []	5182073	\N	\N	EFO	7	EFO	disposition	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231147	"" []	5997450	\N	\N	EFO	8	EFO	material property	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231147	"" []	6550853	\N	\N	EFO	9	EFO	experimental factor	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Orphanet:231154	\N	\N	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	Orphanet:231154	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	74811	\N	\N	EFO	0	EFO	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
Orphanet:101972	Orphanet:231154	\N	"" []	Orphanet:231154	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	216982	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:231154	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	571627	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:231154	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	1153892	\N	\N	EFO	3	EFO	Primary immunodeficiency	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:231154	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	2036479	\N	\N	EFO	4	EFO	Rare genetic immune disease	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231154	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	3186842	\N	\N	EFO	5	EFO	genetic disorder	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:231154	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	3186843	\N	\N	EFO	5	EFO	immune system disease	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231154	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	4394131	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231154	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	4394132	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231154	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	5412408	\N	\N	EFO	7	EFO	disposition	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231154	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	6149301	\N	\N	EFO	8	EFO	material property	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231154	"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." []	6632574	\N	\N	EFO	9	EFO	experimental factor	Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
Orphanet:231160	\N	\N	"" []	Orphanet:231160	"" []	74812	\N	\N	EFO	0	EFO	Familial cerebral saccular aneurysm	Familial cerebral saccular aneurysm
Orphanet:183503	Orphanet:231160	\N	"" []	Orphanet:231160	"" []	216983	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Familial cerebral saccular aneurysm
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:231160	"" []	571628	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Familial cerebral saccular aneurysm
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231160	"" []	1153893	\N	\N	EFO	3	EFO	genetic disorder	Familial cerebral saccular aneurysm
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231160	"" []	2036480	\N	\N	EFO	4	EFO	disease	Familial cerebral saccular aneurysm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231160	"" []	3186844	\N	\N	EFO	5	EFO	disposition	Familial cerebral saccular aneurysm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231160	"" []	4394133	\N	\N	EFO	6	EFO	material property	Familial cerebral saccular aneurysm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231160	"" []	5412409	\N	\N	EFO	7	EFO	experimental factor	Familial cerebral saccular aneurysm
Orphanet:231169	\N	\N	"" []	Orphanet:231169	"" []	74813	\N	\N	EFO	0	EFO	Usher syndrome type 1	Usher syndrome type 1
Orphanet:886	Orphanet:231169	\N	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	Orphanet:231169	"" []	216984	\N	\N	EFO	1	EFO	Usher syndrome	Usher syndrome type 1
EFO:0003900	Orphanet:886	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:231169	"" []	571629	\N	\N	EFO	2	EFO	ciliopathy	Usher syndrome type 1
Orphanet:90642	Orphanet:886	\N	"" []	Orphanet:231169	"" []	571630	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Usher syndrome type 1
Orphanet:98661	Orphanet:886	\N	"" []	Orphanet:231169	"" []	571631	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	Usher syndrome type 1
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231169	"" []	1153894	\N	\N	EFO	3	EFO	genetic disorder	Usher syndrome type 1
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:231169	"" []	1153895	\N	\N	EFO	3	EFO	Rare genetic deafness	Usher syndrome type 1
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:231169	"" []	1153896	\N	\N	EFO	3	EFO	Retinal dystrophy	Usher syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231169	"" []	5412412	\N	\N	EFO	7	EFO	disease	Usher syndrome type 1
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231169	"" []	2036482	\N	\N	EFO	4	EFO	genetic disorder	Usher syndrome type 1
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:231169	"" []	2036483	\N	\N	EFO	4	EFO	auditory system disease	Usher syndrome type 1
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:231169	"" []	2036484	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Usher syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231169	"" []	5817578	\N	\N	EFO	8	EFO	disposition	Usher syndrome type 1
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:231169	"" []	3186847	\N	\N	EFO	5	EFO	sensory system disease	Usher syndrome type 1
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:231169	"" []	3186848	\N	\N	EFO	5	EFO	Rare genetic eye disease	Usher syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231169	"" []	6409971	\N	\N	EFO	9	EFO	material property	Usher syndrome type 1
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:231169	"" []	4394135	\N	\N	EFO	6	EFO	nervous system disease	Usher syndrome type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231169	"" []	4394136	\N	\N	EFO	6	EFO	genetic disorder	Usher syndrome type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:231169	"" []	4394137	\N	\N	EFO	6	EFO	eye disease	Usher syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231169	"" []	6807823	\N	\N	EFO	10	EFO	experimental factor	Usher syndrome type 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231169	"" []	5412411	\N	\N	EFO	7	EFO	disease	Usher syndrome type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231169	"" []	5412413	\N	\N	EFO	7	EFO	disease	Usher syndrome type 1
Orphanet:231178	\N	\N	"" []	Orphanet:231178	"" []	74814	\N	\N	EFO	0	EFO	Usher syndrome type 2	Usher syndrome type 2
Orphanet:886	Orphanet:231178	\N	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	Orphanet:231178	"" []	216985	\N	\N	EFO	1	EFO	Usher syndrome	Usher syndrome type 2
EFO:0003900	Orphanet:886	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:231178	"" []	571632	\N	\N	EFO	2	EFO	ciliopathy	Usher syndrome type 2
Orphanet:90642	Orphanet:886	\N	"" []	Orphanet:231178	"" []	571633	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Usher syndrome type 2
Orphanet:98661	Orphanet:886	\N	"" []	Orphanet:231178	"" []	571634	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	Usher syndrome type 2
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231178	"" []	1153897	\N	\N	EFO	3	EFO	genetic disorder	Usher syndrome type 2
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:231178	"" []	1153898	\N	\N	EFO	3	EFO	Rare genetic deafness	Usher syndrome type 2
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:231178	"" []	1153899	\N	\N	EFO	3	EFO	Retinal dystrophy	Usher syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231178	"" []	5412416	\N	\N	EFO	7	EFO	disease	Usher syndrome type 2
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231178	"" []	2036486	\N	\N	EFO	4	EFO	genetic disorder	Usher syndrome type 2
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:231178	"" []	2036487	\N	\N	EFO	4	EFO	auditory system disease	Usher syndrome type 2
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:231178	"" []	2036488	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Usher syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231178	"" []	5817579	\N	\N	EFO	8	EFO	disposition	Usher syndrome type 2
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:231178	"" []	3186851	\N	\N	EFO	5	EFO	sensory system disease	Usher syndrome type 2
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:231178	"" []	3186852	\N	\N	EFO	5	EFO	Rare genetic eye disease	Usher syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231178	"" []	6409972	\N	\N	EFO	9	EFO	material property	Usher syndrome type 2
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:231178	"" []	4394139	\N	\N	EFO	6	EFO	nervous system disease	Usher syndrome type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231178	"" []	4394140	\N	\N	EFO	6	EFO	genetic disorder	Usher syndrome type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:231178	"" []	4394141	\N	\N	EFO	6	EFO	eye disease	Usher syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231178	"" []	6807824	\N	\N	EFO	10	EFO	experimental factor	Usher syndrome type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231178	"" []	5412415	\N	\N	EFO	7	EFO	disease	Usher syndrome type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231178	"" []	5412417	\N	\N	EFO	7	EFO	disease	Usher syndrome type 2
Orphanet:231183	\N	\N	"" []	Orphanet:231183	"" []	74815	\N	\N	EFO	0	EFO	Usher syndrome type 3	Usher syndrome type 3
Orphanet:886	Orphanet:231183	\N	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	Orphanet:231183	"" []	216986	\N	\N	EFO	1	EFO	Usher syndrome	Usher syndrome type 3
EFO:0003900	Orphanet:886	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:231183	"" []	571635	\N	\N	EFO	2	EFO	ciliopathy	Usher syndrome type 3
Orphanet:90642	Orphanet:886	\N	"" []	Orphanet:231183	"" []	571636	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Usher syndrome type 3
Orphanet:98661	Orphanet:886	\N	"" []	Orphanet:231183	"" []	571637	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	Usher syndrome type 3
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231183	"" []	1153900	\N	\N	EFO	3	EFO	genetic disorder	Usher syndrome type 3
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:231183	"" []	1153901	\N	\N	EFO	3	EFO	Rare genetic deafness	Usher syndrome type 3
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:231183	"" []	1153902	\N	\N	EFO	3	EFO	Retinal dystrophy	Usher syndrome type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231183	"" []	5412420	\N	\N	EFO	7	EFO	disease	Usher syndrome type 3
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231183	"" []	2036490	\N	\N	EFO	4	EFO	genetic disorder	Usher syndrome type 3
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:231183	"" []	2036491	\N	\N	EFO	4	EFO	auditory system disease	Usher syndrome type 3
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:231183	"" []	2036492	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Usher syndrome type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231183	"" []	5817580	\N	\N	EFO	8	EFO	disposition	Usher syndrome type 3
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:231183	"" []	3186855	\N	\N	EFO	5	EFO	sensory system disease	Usher syndrome type 3
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:231183	"" []	3186856	\N	\N	EFO	5	EFO	Rare genetic eye disease	Usher syndrome type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231183	"" []	6409973	\N	\N	EFO	9	EFO	material property	Usher syndrome type 3
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:231183	"" []	4394143	\N	\N	EFO	6	EFO	nervous system disease	Usher syndrome type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231183	"" []	4394144	\N	\N	EFO	6	EFO	genetic disorder	Usher syndrome type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:231183	"" []	4394145	\N	\N	EFO	6	EFO	eye disease	Usher syndrome type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231183	"" []	6807825	\N	\N	EFO	10	EFO	experimental factor	Usher syndrome type 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231183	"" []	5412419	\N	\N	EFO	7	EFO	disease	Usher syndrome type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231183	"" []	5412421	\N	\N	EFO	7	EFO	disease	Usher syndrome type 3
Orphanet:2312	\N	\N	"" []	Orphanet:2312	"" []	74816	\N	\N	EFO	0	EFO	Transient familial neonatal hyperbilirubinemia	Transient familial neonatal hyperbilirubinemia
Orphanet:156601	Orphanet:2312	\N	"" []	Orphanet:2312	"" []	216987	\N	\N	EFO	1	EFO	Rare genetic hepatic disease	Transient familial neonatal hyperbilirubinemia
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2312	"" []	571638	\N	\N	EFO	2	EFO	digestive system disease	Transient familial neonatal hyperbilirubinemia
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2312	"" []	571639	\N	\N	EFO	2	EFO	genetic disorder	Transient familial neonatal hyperbilirubinemia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2312	"" []	1153903	\N	\N	EFO	3	EFO	disease	Transient familial neonatal hyperbilirubinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2312	"" []	1153904	\N	\N	EFO	3	EFO	disease	Transient familial neonatal hyperbilirubinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2312	"" []	2036493	\N	\N	EFO	4	EFO	disposition	Transient familial neonatal hyperbilirubinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2312	"" []	3186857	\N	\N	EFO	5	EFO	material property	Transient familial neonatal hyperbilirubinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2312	"" []	4394146	\N	\N	EFO	6	EFO	experimental factor	Transient familial neonatal hyperbilirubinemia
Orphanet:231214	\N	\N	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	74817	\N	\N	EFO	0	EFO	Beta-thalassemia major	Beta-thalassemia major
Orphanet:848	Orphanet:231214	\N	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	216988	\N	\N	EFO	1	EFO	Beta-thalassemia	Beta-thalassemia major
Orphanet:275749	Orphanet:848	\N	"" []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	571640	\N	\N	EFO	2	EFO	Beta-thalassemia and related diseases	Beta-thalassemia major
Orphanet:93614	Orphanet:848	\N	"" []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	571641	\N	\N	EFO	2	EFO	Hematological disorder with renal involvement	Beta-thalassemia major
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	1153905	\N	\N	EFO	3	EFO	Thalassemia	Beta-thalassemia major
EFO:0005803	Orphanet:93614	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	1153906	\N	\N	EFO	3	EFO	hematological system disease	Beta-thalassemia major
Orphanet:98056	Orphanet:93614	\N	"" []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	1153907	\N	\N	EFO	3	EFO	Rare genetic renal disease	Beta-thalassemia major
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	2036494	\N	\N	EFO	4	EFO	Hemoglobinopathy	Beta-thalassemia major
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	6149303	\N	\N	EFO	8	EFO	disease	Beta-thalassemia major
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	2036496	\N	\N	EFO	4	EFO	genetic disorder	Beta-thalassemia major
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	3186858	\N	\N	EFO	5	EFO	Rare constitutional anemia	Beta-thalassemia major
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	6378859	\N	\N	EFO	9	EFO	disposition	Beta-thalassemia major
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	6149302	\N	\N	EFO	8	EFO	disease	Beta-thalassemia major
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	4394147	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Beta-thalassemia major
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	6778654	\N	\N	EFO	10	EFO	material property	Beta-thalassemia major
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	5412422	\N	\N	EFO	7	EFO	genetic disorder	Beta-thalassemia major
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	5412423	\N	\N	EFO	7	EFO	hematological system disease	Beta-thalassemia major
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231214	"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions." []	7029864	\N	\N	EFO	11	EFO	experimental factor	Beta-thalassemia major
Orphanet:231222	\N	\N	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	74818	\N	\N	EFO	0	EFO	Beta-thalassemia intermedia	Beta-thalassemia intermedia
Orphanet:848	Orphanet:231222	\N	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	216989	\N	\N	EFO	1	EFO	Beta-thalassemia	Beta-thalassemia intermedia
Orphanet:275749	Orphanet:848	\N	"" []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	571642	\N	\N	EFO	2	EFO	Beta-thalassemia and related diseases	Beta-thalassemia intermedia
Orphanet:93614	Orphanet:848	\N	"" []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	571643	\N	\N	EFO	2	EFO	Hematological disorder with renal involvement	Beta-thalassemia intermedia
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	1153908	\N	\N	EFO	3	EFO	Thalassemia	Beta-thalassemia intermedia
EFO:0005803	Orphanet:93614	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	1153909	\N	\N	EFO	3	EFO	hematological system disease	Beta-thalassemia intermedia
Orphanet:98056	Orphanet:93614	\N	"" []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	1153910	\N	\N	EFO	3	EFO	Rare genetic renal disease	Beta-thalassemia intermedia
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	2036497	\N	\N	EFO	4	EFO	Hemoglobinopathy	Beta-thalassemia intermedia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	6149305	\N	\N	EFO	8	EFO	disease	Beta-thalassemia intermedia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	2036499	\N	\N	EFO	4	EFO	genetic disorder	Beta-thalassemia intermedia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	3186861	\N	\N	EFO	5	EFO	Rare constitutional anemia	Beta-thalassemia intermedia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	6378860	\N	\N	EFO	9	EFO	disposition	Beta-thalassemia intermedia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	6149304	\N	\N	EFO	8	EFO	disease	Beta-thalassemia intermedia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	4394150	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Beta-thalassemia intermedia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	6778655	\N	\N	EFO	10	EFO	material property	Beta-thalassemia intermedia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	5412425	\N	\N	EFO	7	EFO	genetic disorder	Beta-thalassemia intermedia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	5412426	\N	\N	EFO	7	EFO	hematological system disease	Beta-thalassemia intermedia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231222	"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion." []	7029865	\N	\N	EFO	11	EFO	experimental factor	Beta-thalassemia intermedia
Orphanet:231226	\N	\N	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	74819	\N	\N	EFO	0	EFO	Dominant beta-thalassemia	Dominant beta-thalassemia
Orphanet:848	Orphanet:231226	\N	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	216990	\N	\N	EFO	1	EFO	Beta-thalassemia	Dominant beta-thalassemia
Orphanet:275749	Orphanet:848	\N	"" []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	571644	\N	\N	EFO	2	EFO	Beta-thalassemia and related diseases	Dominant beta-thalassemia
Orphanet:93614	Orphanet:848	\N	"" []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	571645	\N	\N	EFO	2	EFO	Hematological disorder with renal involvement	Dominant beta-thalassemia
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	1153911	\N	\N	EFO	3	EFO	Thalassemia	Dominant beta-thalassemia
EFO:0005803	Orphanet:93614	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	1153912	\N	\N	EFO	3	EFO	hematological system disease	Dominant beta-thalassemia
Orphanet:98056	Orphanet:93614	\N	"" []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	1153913	\N	\N	EFO	3	EFO	Rare genetic renal disease	Dominant beta-thalassemia
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	2036500	\N	\N	EFO	4	EFO	Hemoglobinopathy	Dominant beta-thalassemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	6149307	\N	\N	EFO	8	EFO	disease	Dominant beta-thalassemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	2036502	\N	\N	EFO	4	EFO	genetic disorder	Dominant beta-thalassemia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	3186864	\N	\N	EFO	5	EFO	Rare constitutional anemia	Dominant beta-thalassemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	6378861	\N	\N	EFO	9	EFO	disposition	Dominant beta-thalassemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	6149306	\N	\N	EFO	8	EFO	disease	Dominant beta-thalassemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	4394153	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Dominant beta-thalassemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	6778656	\N	\N	EFO	10	EFO	material property	Dominant beta-thalassemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	5412428	\N	\N	EFO	7	EFO	genetic disorder	Dominant beta-thalassemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	5412429	\N	\N	EFO	7	EFO	hematological system disease	Dominant beta-thalassemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231226	"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." []	7029866	\N	\N	EFO	11	EFO	experimental factor	Dominant beta-thalassemia
Orphanet:231230	\N	\N	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	74820	\N	\N	EFO	0	EFO	Beta-thalassemia associated with another hemoglobin anomaly	Beta-thalassemia associated with another hemoglobin anomaly
Orphanet:275749	Orphanet:231230	\N	"" []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	216991	\N	\N	EFO	1	EFO	Beta-thalassemia and related diseases	Beta-thalassemia associated with another hemoglobin anomaly
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	571646	\N	\N	EFO	2	EFO	Thalassemia	Beta-thalassemia associated with another hemoglobin anomaly
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	1153914	\N	\N	EFO	3	EFO	Hemoglobinopathy	Beta-thalassemia associated with another hemoglobin anomaly
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	2036503	\N	\N	EFO	4	EFO	Rare constitutional anemia	Beta-thalassemia associated with another hemoglobin anomaly
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	3186867	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Beta-thalassemia associated with another hemoglobin anomaly
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	4394156	\N	\N	EFO	6	EFO	genetic disorder	Beta-thalassemia associated with another hemoglobin anomaly
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	4394157	\N	\N	EFO	6	EFO	hematological system disease	Beta-thalassemia associated with another hemoglobin anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	5412431	\N	\N	EFO	7	EFO	disease	Beta-thalassemia associated with another hemoglobin anomaly
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	5412432	\N	\N	EFO	7	EFO	disease	Beta-thalassemia associated with another hemoglobin anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	6149308	\N	\N	EFO	8	EFO	disposition	Beta-thalassemia associated with another hemoglobin anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	6632575	\N	\N	EFO	9	EFO	material property	Beta-thalassemia associated with another hemoglobin anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231230	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	6925566	\N	\N	EFO	10	EFO	experimental factor	Beta-thalassemia associated with another hemoglobin anomaly
Orphanet:231237	\N	\N	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	74821	\N	\N	EFO	0	EFO	Delta-beta-thalassemia	Delta-beta-thalassemia
Orphanet:231230	Orphanet:231237	\N	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	216992	\N	\N	EFO	1	EFO	Beta-thalassemia associated with another hemoglobin anomaly	Delta-beta-thalassemia
Orphanet:275749	Orphanet:231230	\N	"" []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	571647	\N	\N	EFO	2	EFO	Beta-thalassemia and related diseases	Delta-beta-thalassemia
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	1153915	\N	\N	EFO	3	EFO	Thalassemia	Delta-beta-thalassemia
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	2036504	\N	\N	EFO	4	EFO	Hemoglobinopathy	Delta-beta-thalassemia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	3186868	\N	\N	EFO	5	EFO	Rare constitutional anemia	Delta-beta-thalassemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	4394158	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Delta-beta-thalassemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	5412433	\N	\N	EFO	7	EFO	genetic disorder	Delta-beta-thalassemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	5412434	\N	\N	EFO	7	EFO	hematological system disease	Delta-beta-thalassemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	6149309	\N	\N	EFO	8	EFO	disease	Delta-beta-thalassemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	6149310	\N	\N	EFO	8	EFO	disease	Delta-beta-thalassemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	6632576	\N	\N	EFO	9	EFO	disposition	Delta-beta-thalassemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	6925567	\N	\N	EFO	10	EFO	material property	Delta-beta-thalassemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231237	"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." []	7099054	\N	\N	EFO	11	EFO	experimental factor	Delta-beta-thalassemia
Orphanet:231242	\N	\N	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	74822	\N	\N	EFO	0	EFO	Hemoglobin C - beta-thalassemia	Hemoglobin C - beta-thalassemia
Orphanet:231230	Orphanet:231242	\N	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	216993	\N	\N	EFO	1	EFO	Beta-thalassemia associated with another hemoglobin anomaly	Hemoglobin C - beta-thalassemia
Orphanet:275749	Orphanet:231230	\N	"" []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	571648	\N	\N	EFO	2	EFO	Beta-thalassemia and related diseases	Hemoglobin C - beta-thalassemia
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	1153916	\N	\N	EFO	3	EFO	Thalassemia	Hemoglobin C - beta-thalassemia
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	2036505	\N	\N	EFO	4	EFO	Hemoglobinopathy	Hemoglobin C - beta-thalassemia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	3186869	\N	\N	EFO	5	EFO	Rare constitutional anemia	Hemoglobin C - beta-thalassemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	4394159	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Hemoglobin C - beta-thalassemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	5412435	\N	\N	EFO	7	EFO	genetic disorder	Hemoglobin C - beta-thalassemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	5412436	\N	\N	EFO	7	EFO	hematological system disease	Hemoglobin C - beta-thalassemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	6149311	\N	\N	EFO	8	EFO	disease	Hemoglobin C - beta-thalassemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	6149312	\N	\N	EFO	8	EFO	disease	Hemoglobin C - beta-thalassemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	6632577	\N	\N	EFO	9	EFO	disposition	Hemoglobin C - beta-thalassemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	6925568	\N	\N	EFO	10	EFO	material property	Hemoglobin C - beta-thalassemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231242	"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." []	7099055	\N	\N	EFO	11	EFO	experimental factor	Hemoglobin C - beta-thalassemia
Orphanet:231249	\N	\N	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	74823	\N	\N	EFO	0	EFO	Hemoglobin E - beta-thalassemia	Hemoglobin E - beta-thalassemia
Orphanet:231230	Orphanet:231249	\N	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	216994	\N	\N	EFO	1	EFO	Beta-thalassemia associated with another hemoglobin anomaly	Hemoglobin E - beta-thalassemia
Orphanet:275749	Orphanet:231230	\N	"" []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	571649	\N	\N	EFO	2	EFO	Beta-thalassemia and related diseases	Hemoglobin E - beta-thalassemia
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	1153917	\N	\N	EFO	3	EFO	Thalassemia	Hemoglobin E - beta-thalassemia
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	2036506	\N	\N	EFO	4	EFO	Hemoglobinopathy	Hemoglobin E - beta-thalassemia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	3186870	\N	\N	EFO	5	EFO	Rare constitutional anemia	Hemoglobin E - beta-thalassemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	4394160	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Hemoglobin E - beta-thalassemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	5412437	\N	\N	EFO	7	EFO	genetic disorder	Hemoglobin E - beta-thalassemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	5412438	\N	\N	EFO	7	EFO	hematological system disease	Hemoglobin E - beta-thalassemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	6149313	\N	\N	EFO	8	EFO	disease	Hemoglobin E - beta-thalassemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	6149314	\N	\N	EFO	8	EFO	disease	Hemoglobin E - beta-thalassemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	6632578	\N	\N	EFO	9	EFO	disposition	Hemoglobin E - beta-thalassemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	6925569	\N	\N	EFO	10	EFO	material property	Hemoglobin E - beta-thalassemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231249	"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." []	7099056	\N	\N	EFO	11	EFO	experimental factor	Hemoglobin E - beta-thalassemia
Orphanet:231386	\N	\N	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	74824	\N	\N	EFO	0	EFO	Beta-thalassemia with other manifestations	Beta-thalassemia with other manifestations
Orphanet:275749	Orphanet:231386	\N	"" []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	216995	\N	\N	EFO	1	EFO	Beta-thalassemia and related diseases	Beta-thalassemia with other manifestations
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	571650	\N	\N	EFO	2	EFO	Thalassemia	Beta-thalassemia with other manifestations
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	1153918	\N	\N	EFO	3	EFO	Hemoglobinopathy	Beta-thalassemia with other manifestations
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	2036507	\N	\N	EFO	4	EFO	Rare constitutional anemia	Beta-thalassemia with other manifestations
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	3186871	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Beta-thalassemia with other manifestations
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	4394161	\N	\N	EFO	6	EFO	genetic disorder	Beta-thalassemia with other manifestations
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	4394162	\N	\N	EFO	6	EFO	hematological system disease	Beta-thalassemia with other manifestations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	5412439	\N	\N	EFO	7	EFO	disease	Beta-thalassemia with other manifestations
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	5412440	\N	\N	EFO	7	EFO	disease	Beta-thalassemia with other manifestations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	6149315	\N	\N	EFO	8	EFO	disposition	Beta-thalassemia with other manifestations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	6632579	\N	\N	EFO	9	EFO	material property	Beta-thalassemia with other manifestations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231386	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	6925570	\N	\N	EFO	10	EFO	experimental factor	Beta-thalassemia with other manifestations
Orphanet:231393	\N	\N	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	74825	\N	\N	EFO	0	EFO	Beta-thalassemia - X-linked thrombocytopenia	Beta-thalassemia - X-linked thrombocytopenia
Orphanet:231386	Orphanet:231393	\N	"Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	216996	\N	\N	EFO	1	EFO	Beta-thalassemia with other manifestations	Beta-thalassemia - X-linked thrombocytopenia
Orphanet:275749	Orphanet:231386	\N	"" []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	571651	\N	\N	EFO	2	EFO	Beta-thalassemia and related diseases	Beta-thalassemia - X-linked thrombocytopenia
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	1153919	\N	\N	EFO	3	EFO	Thalassemia	Beta-thalassemia - X-linked thrombocytopenia
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	2036508	\N	\N	EFO	4	EFO	Hemoglobinopathy	Beta-thalassemia - X-linked thrombocytopenia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	3186872	\N	\N	EFO	5	EFO	Rare constitutional anemia	Beta-thalassemia - X-linked thrombocytopenia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	4394163	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Beta-thalassemia - X-linked thrombocytopenia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	5412441	\N	\N	EFO	7	EFO	genetic disorder	Beta-thalassemia - X-linked thrombocytopenia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	5412442	\N	\N	EFO	7	EFO	hematological system disease	Beta-thalassemia - X-linked thrombocytopenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	6149316	\N	\N	EFO	8	EFO	disease	Beta-thalassemia - X-linked thrombocytopenia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	6149317	\N	\N	EFO	8	EFO	disease	Beta-thalassemia - X-linked thrombocytopenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	6632580	\N	\N	EFO	9	EFO	disposition	Beta-thalassemia - X-linked thrombocytopenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	6925571	\N	\N	EFO	10	EFO	material property	Beta-thalassemia - X-linked thrombocytopenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231393	"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." []	7099057	\N	\N	EFO	11	EFO	experimental factor	Beta-thalassemia - X-linked thrombocytopenia
Orphanet:2314	\N	\N	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	74826	\N	\N	EFO	0	EFO	Autosomal dominant hyper-IgE syndrome	Autosomal dominant hyper-IgE syndrome
Orphanet:183494	Orphanet:2314	\N	"" []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	216997	\N	\N	EFO	1	EFO	Genetic immune deficiency with skin involvement	Autosomal dominant hyper-IgE syndrome
Orphanet:331223	Orphanet:2314	\N	"" []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	216998	\N	\N	EFO	1	EFO	Hyper-IgE syndrome	Autosomal dominant hyper-IgE syndrome
Orphanet:68346	Orphanet:183494	\N	"" []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	571652	\N	\N	EFO	2	EFO	Rare genetic skin disease	Autosomal dominant hyper-IgE syndrome
Orphanet:331217	Orphanet:331223	\N	"" []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	571653	\N	\N	EFO	2	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Autosomal dominant hyper-IgE syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	1153920	\N	\N	EFO	3	EFO	genetic disorder	Autosomal dominant hyper-IgE syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	1153921	\N	\N	EFO	3	EFO	skin disease	Autosomal dominant hyper-IgE syndrome
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	1153922	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Autosomal dominant hyper-IgE syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	5412444	\N	\N	EFO	7	EFO	disease	Autosomal dominant hyper-IgE syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	2036510	\N	\N	EFO	4	EFO	disease	Autosomal dominant hyper-IgE syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	2036511	\N	\N	EFO	4	EFO	Primary immunodeficiency	Autosomal dominant hyper-IgE syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	5817581	\N	\N	EFO	8	EFO	disposition	Autosomal dominant hyper-IgE syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	3186874	\N	\N	EFO	5	EFO	Rare genetic immune disease	Autosomal dominant hyper-IgE syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	6409974	\N	\N	EFO	9	EFO	material property	Autosomal dominant hyper-IgE syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	4394165	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant hyper-IgE syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	4394166	\N	\N	EFO	6	EFO	immune system disease	Autosomal dominant hyper-IgE syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	6807826	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant hyper-IgE syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2314	"2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." []	5412445	\N	\N	EFO	7	EFO	disease	Autosomal dominant hyper-IgE syndrome
Orphanet:231401	\N	\N	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	74827	\N	\N	EFO	0	EFO	Alpha-thalassemia - myelodysplastic syndrome	Alpha-thalassemia - myelodysplastic syndrome
Orphanet:232288	Orphanet:231401	\N	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	216999	\N	\N	EFO	1	EFO	Alpha-thalassemia-related diseases	Alpha-thalassemia - myelodysplastic syndrome
Orphanet:275745	Orphanet:232288	\N	"" []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	571654	\N	\N	EFO	2	EFO	Alpha-thalassemia and related diseases	Alpha-thalassemia - myelodysplastic syndrome
EFO:1001996	Orphanet:275745	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	1153923	\N	\N	EFO	3	EFO	Thalassemia	Alpha-thalassemia - myelodysplastic syndrome
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	2036512	\N	\N	EFO	4	EFO	Hemoglobinopathy	Alpha-thalassemia - myelodysplastic syndrome
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	3186875	\N	\N	EFO	5	EFO	Rare constitutional anemia	Alpha-thalassemia - myelodysplastic syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	4394167	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Alpha-thalassemia - myelodysplastic syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	5412446	\N	\N	EFO	7	EFO	genetic disorder	Alpha-thalassemia - myelodysplastic syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	5412447	\N	\N	EFO	7	EFO	hematological system disease	Alpha-thalassemia - myelodysplastic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	6149318	\N	\N	EFO	8	EFO	disease	Alpha-thalassemia - myelodysplastic syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	6149319	\N	\N	EFO	8	EFO	disease	Alpha-thalassemia - myelodysplastic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	6632581	\N	\N	EFO	9	EFO	disposition	Alpha-thalassemia - myelodysplastic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	6925572	\N	\N	EFO	10	EFO	material property	Alpha-thalassemia - myelodysplastic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231401	"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." []	7099058	\N	\N	EFO	11	EFO	experimental factor	Alpha-thalassemia - myelodysplastic syndrome
Orphanet:2315	\N	\N	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	74828	\N	\N	EFO	0	EFO	Johanson-Blizzard syndrome	Johanson-Blizzard syndrome
Orphanet:102283	Orphanet:2315	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	217000	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Johanson-Blizzard syndrome
Orphanet:117573	Orphanet:2315	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	217001	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Johanson-Blizzard syndrome
Orphanet:177107	Orphanet:2315	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	217002	\N	\N	EFO	1	EFO	Syndromic hypothyroidism	Johanson-Blizzard syndrome
Orphanet:183570	Orphanet:2315	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	217003	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Johanson-Blizzard syndrome
Orphanet:183763	Orphanet:2315	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	217004	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Johanson-Blizzard syndrome
Orphanet:79373	Orphanet:2315	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	217005	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Johanson-Blizzard syndrome
Orphanet:95495	Orphanet:2315	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	217006	\N	\N	EFO	1	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Johanson-Blizzard syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	571655	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Johanson-Blizzard syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	571656	\N	\N	EFO	2	EFO	Anorectal malformation	Johanson-Blizzard syndrome
Orphanet:226292	Orphanet:177107	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	571657	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Johanson-Blizzard syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	571658	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Johanson-Blizzard syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	571659	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Johanson-Blizzard syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	571660	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Johanson-Blizzard syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	571661	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Johanson-Blizzard syndrome
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	571662	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	Johanson-Blizzard syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	1153924	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Johanson-Blizzard syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	1153925	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Johanson-Blizzard syndrome
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	1153926	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Johanson-Blizzard syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	3186876	\N	\N	EFO	5	EFO	genetic disorder	Johanson-Blizzard syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	1153928	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Johanson-Blizzard syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	1153929	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Johanson-Blizzard syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	1153930	\N	\N	EFO	3	EFO	Rare genetic skin disease	Johanson-Blizzard syndrome
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	1153931	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Johanson-Blizzard syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	2036514	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Johanson-Blizzard syndrome
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	2036515	\N	\N	EFO	4	EFO	Rare hypothyroidism	Johanson-Blizzard syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	6149321	\N	\N	EFO	8	EFO	disease	Johanson-Blizzard syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	2036517	\N	\N	EFO	4	EFO	genetic disorder	Johanson-Blizzard syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	2036518	\N	\N	EFO	4	EFO	genetic disorder	Johanson-Blizzard syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	2036519	\N	\N	EFO	4	EFO	skin disease	Johanson-Blizzard syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	2036520	\N	\N	EFO	4	EFO	Pituitary deficiency	Johanson-Blizzard syndrome
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	3186877	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Johanson-Blizzard syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	6378862	\N	\N	EFO	9	EFO	disposition	Johanson-Blizzard syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	3186879	\N	\N	EFO	5	EFO	disease	Johanson-Blizzard syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	3186880	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Johanson-Blizzard syndrome
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	4394168	\N	\N	EFO	6	EFO	thyroid disease	Johanson-Blizzard syndrome
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	4394169	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Johanson-Blizzard syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	6778657	\N	\N	EFO	10	EFO	material property	Johanson-Blizzard syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	4394171	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Johanson-Blizzard syndrome
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	5412448	\N	\N	EFO	7	EFO	endocrine system disease	Johanson-Blizzard syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	5412449	\N	\N	EFO	7	EFO	genetic disorder	Johanson-Blizzard syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	5412450	\N	\N	EFO	7	EFO	endocrine system disease	Johanson-Blizzard syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	7029867	\N	\N	EFO	11	EFO	experimental factor	Johanson-Blizzard syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2315	"Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." []	6149320	\N	\N	EFO	8	EFO	disease	Johanson-Blizzard syndrome
Orphanet:231500	\N	\N	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	74829	\N	\N	EFO	0	EFO	Hermansky-Pudlak syndrome with pulmonary fibrosis	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:79430	Orphanet:231500	\N	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	217007	\N	\N	EFO	1	EFO	Hermansky-Pudlak syndrome	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:284811	Orphanet:79430	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	571663	\N	\N	EFO	2	EFO	Syndromic oculocutaneous albinism	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:309340	Orphanet:79430	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	571664	\N	\N	EFO	2	EFO	Disorder of lysosomal-related organelles	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:98456	Orphanet:79430	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	571665	\N	\N	EFO	2	EFO	Dense granule disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	1153932	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	1153933	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:68367	Orphanet:309340	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	1153934	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:98454	Orphanet:98456	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	1153935	\N	\N	EFO	3	EFO	Platelet storage pool disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	2036521	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	2036522	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	2036523	\N	\N	EFO	4	EFO	genetic disorder	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	2036524	\N	\N	EFO	4	EFO	metabolic disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	2036525	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	3186881	\N	\N	EFO	5	EFO	Rare genetic skin disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	3186882	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	6632582	\N	\N	EFO	9	EFO	disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	3186884	\N	\N	EFO	5	EFO	disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	3186885	\N	\N	EFO	5	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	4394172	\N	\N	EFO	6	EFO	genetic disorder	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	4394173	\N	\N	EFO	6	EFO	skin disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	4394174	\N	\N	EFO	6	EFO	Rare genetic eye disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	6778658	\N	\N	EFO	10	EFO	disposition	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	4394176	\N	\N	EFO	6	EFO	Rare genetic coagulation disorder	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	5412453	\N	\N	EFO	7	EFO	disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	5412454	\N	\N	EFO	7	EFO	genetic disorder	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	5412455	\N	\N	EFO	7	EFO	eye disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	7029868	\N	\N	EFO	11	EFO	material property	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	5412457	\N	\N	EFO	7	EFO	Rare genetic hematologic disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	6149323	\N	\N	EFO	8	EFO	disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	7181759	\N	\N	EFO	12	EFO	experimental factor	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	6149325	\N	\N	EFO	8	EFO	genetic disorder	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	6149326	\N	\N	EFO	8	EFO	hematological system disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231500	"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." []	6632583	\N	\N	EFO	9	EFO	disease	Hermansky-Pudlak syndrome with pulmonary fibrosis
Orphanet:231512	\N	\N	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	74830	\N	\N	EFO	0	EFO	Hermansky-Pudlak syndrome without pulmonary fibrosis	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:79430	Orphanet:231512	\N	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	217008	\N	\N	EFO	1	EFO	Hermansky-Pudlak syndrome	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:284811	Orphanet:79430	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	571666	\N	\N	EFO	2	EFO	Syndromic oculocutaneous albinism	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:309340	Orphanet:79430	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	571667	\N	\N	EFO	2	EFO	Disorder of lysosomal-related organelles	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:98456	Orphanet:79430	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	571668	\N	\N	EFO	2	EFO	Dense granule disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	1153936	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	1153937	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:68367	Orphanet:309340	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	1153938	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:98454	Orphanet:98456	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	1153939	\N	\N	EFO	3	EFO	Platelet storage pool disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	2036526	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	2036527	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	2036528	\N	\N	EFO	4	EFO	genetic disorder	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	2036529	\N	\N	EFO	4	EFO	metabolic disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	2036530	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	3186886	\N	\N	EFO	5	EFO	Rare genetic skin disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	3186887	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	6632584	\N	\N	EFO	9	EFO	disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	3186889	\N	\N	EFO	5	EFO	disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	3186890	\N	\N	EFO	5	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	4394177	\N	\N	EFO	6	EFO	genetic disorder	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	4394178	\N	\N	EFO	6	EFO	skin disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	4394179	\N	\N	EFO	6	EFO	Rare genetic eye disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	6778659	\N	\N	EFO	10	EFO	disposition	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	4394181	\N	\N	EFO	6	EFO	Rare genetic coagulation disorder	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	5412459	\N	\N	EFO	7	EFO	disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	5412460	\N	\N	EFO	7	EFO	genetic disorder	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	5412461	\N	\N	EFO	7	EFO	eye disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	7029869	\N	\N	EFO	11	EFO	material property	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	5412463	\N	\N	EFO	7	EFO	Rare genetic hematologic disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	6149328	\N	\N	EFO	8	EFO	disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	7181760	\N	\N	EFO	12	EFO	experimental factor	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	6149330	\N	\N	EFO	8	EFO	genetic disorder	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	6149331	\N	\N	EFO	8	EFO	hematological system disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231512	"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." []	6632585	\N	\N	EFO	9	EFO	disease	Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:231531	\N	\N	"" []	Orphanet:231531	"" []	74831	\N	\N	EFO	0	EFO	Hermansky-Pudlak syndrome type 7	Hermansky-Pudlak syndrome type 7
Orphanet:79430	Orphanet:231531	\N	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	Orphanet:231531	"" []	217009	\N	\N	EFO	1	EFO	Hermansky-Pudlak syndrome	Hermansky-Pudlak syndrome type 7
Orphanet:284811	Orphanet:79430	\N	"" []	Orphanet:231531	"" []	571669	\N	\N	EFO	2	EFO	Syndromic oculocutaneous albinism	Hermansky-Pudlak syndrome type 7
Orphanet:309340	Orphanet:79430	\N	"" []	Orphanet:231531	"" []	571670	\N	\N	EFO	2	EFO	Disorder of lysosomal-related organelles	Hermansky-Pudlak syndrome type 7
Orphanet:98456	Orphanet:79430	\N	"" []	Orphanet:231531	"" []	571671	\N	\N	EFO	2	EFO	Dense granule disease	Hermansky-Pudlak syndrome type 7
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:231531	"" []	1153940	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Hermansky-Pudlak syndrome type 7
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:231531	"" []	1153941	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Hermansky-Pudlak syndrome type 7
Orphanet:68367	Orphanet:309340	\N	"" []	Orphanet:231531	"" []	1153942	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hermansky-Pudlak syndrome type 7
Orphanet:98454	Orphanet:98456	\N	"" []	Orphanet:231531	"" []	1153943	\N	\N	EFO	3	EFO	Platelet storage pool disease	Hermansky-Pudlak syndrome type 7
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:231531	"" []	2036531	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Hermansky-Pudlak syndrome type 7
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:231531	"" []	2036532	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Hermansky-Pudlak syndrome type 7
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231531	"" []	2036533	\N	\N	EFO	4	EFO	genetic disorder	Hermansky-Pudlak syndrome type 7
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:231531	"" []	2036534	\N	\N	EFO	4	EFO	metabolic disease	Hermansky-Pudlak syndrome type 7
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:231531	"" []	2036535	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Hermansky-Pudlak syndrome type 7
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:231531	"" []	3186891	\N	\N	EFO	5	EFO	Rare genetic skin disease	Hermansky-Pudlak syndrome type 7
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:231531	"" []	3186892	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Hermansky-Pudlak syndrome type 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231531	"" []	6632586	\N	\N	EFO	9	EFO	disease	Hermansky-Pudlak syndrome type 7
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231531	"" []	3186894	\N	\N	EFO	5	EFO	disease	Hermansky-Pudlak syndrome type 7
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:231531	"" []	3186895	\N	\N	EFO	5	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Hermansky-Pudlak syndrome type 7
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231531	"" []	4394182	\N	\N	EFO	6	EFO	genetic disorder	Hermansky-Pudlak syndrome type 7
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:231531	"" []	4394183	\N	\N	EFO	6	EFO	skin disease	Hermansky-Pudlak syndrome type 7
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:231531	"" []	4394184	\N	\N	EFO	6	EFO	Rare genetic eye disease	Hermansky-Pudlak syndrome type 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231531	"" []	6778660	\N	\N	EFO	10	EFO	disposition	Hermansky-Pudlak syndrome type 7
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:231531	"" []	4394186	\N	\N	EFO	6	EFO	Rare genetic coagulation disorder	Hermansky-Pudlak syndrome type 7
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231531	"" []	5412465	\N	\N	EFO	7	EFO	disease	Hermansky-Pudlak syndrome type 7
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231531	"" []	5412466	\N	\N	EFO	7	EFO	genetic disorder	Hermansky-Pudlak syndrome type 7
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:231531	"" []	5412467	\N	\N	EFO	7	EFO	eye disease	Hermansky-Pudlak syndrome type 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231531	"" []	7029870	\N	\N	EFO	11	EFO	material property	Hermansky-Pudlak syndrome type 7
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:231531	"" []	5412469	\N	\N	EFO	7	EFO	Rare genetic hematologic disease	Hermansky-Pudlak syndrome type 7
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231531	"" []	6149333	\N	\N	EFO	8	EFO	disease	Hermansky-Pudlak syndrome type 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231531	"" []	7181761	\N	\N	EFO	12	EFO	experimental factor	Hermansky-Pudlak syndrome type 7
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231531	"" []	6149335	\N	\N	EFO	8	EFO	genetic disorder	Hermansky-Pudlak syndrome type 7
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231531	"" []	6149336	\N	\N	EFO	8	EFO	hematological system disease	Hermansky-Pudlak syndrome type 7
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231531	"" []	6632587	\N	\N	EFO	9	EFO	disease	Hermansky-Pudlak syndrome type 7
Orphanet:231537	\N	\N	"" []	Orphanet:231537	"" []	74832	\N	\N	EFO	0	EFO	Hermansky-Pudlak syndrome type 8	Hermansky-Pudlak syndrome type 8
Orphanet:79430	Orphanet:231537	\N	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	Orphanet:231537	"" []	217010	\N	\N	EFO	1	EFO	Hermansky-Pudlak syndrome	Hermansky-Pudlak syndrome type 8
Orphanet:284811	Orphanet:79430	\N	"" []	Orphanet:231537	"" []	571672	\N	\N	EFO	2	EFO	Syndromic oculocutaneous albinism	Hermansky-Pudlak syndrome type 8
Orphanet:309340	Orphanet:79430	\N	"" []	Orphanet:231537	"" []	571673	\N	\N	EFO	2	EFO	Disorder of lysosomal-related organelles	Hermansky-Pudlak syndrome type 8
Orphanet:98456	Orphanet:79430	\N	"" []	Orphanet:231537	"" []	571674	\N	\N	EFO	2	EFO	Dense granule disease	Hermansky-Pudlak syndrome type 8
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:231537	"" []	1153944	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Hermansky-Pudlak syndrome type 8
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:231537	"" []	1153945	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Hermansky-Pudlak syndrome type 8
Orphanet:68367	Orphanet:309340	\N	"" []	Orphanet:231537	"" []	1153946	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hermansky-Pudlak syndrome type 8
Orphanet:98454	Orphanet:98456	\N	"" []	Orphanet:231537	"" []	1153947	\N	\N	EFO	3	EFO	Platelet storage pool disease	Hermansky-Pudlak syndrome type 8
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:231537	"" []	2036536	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Hermansky-Pudlak syndrome type 8
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:231537	"" []	2036537	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Hermansky-Pudlak syndrome type 8
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231537	"" []	2036538	\N	\N	EFO	4	EFO	genetic disorder	Hermansky-Pudlak syndrome type 8
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:231537	"" []	2036539	\N	\N	EFO	4	EFO	metabolic disease	Hermansky-Pudlak syndrome type 8
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:231537	"" []	2036540	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Hermansky-Pudlak syndrome type 8
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:231537	"" []	3186896	\N	\N	EFO	5	EFO	Rare genetic skin disease	Hermansky-Pudlak syndrome type 8
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:231537	"" []	3186897	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Hermansky-Pudlak syndrome type 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231537	"" []	6632588	\N	\N	EFO	9	EFO	disease	Hermansky-Pudlak syndrome type 8
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231537	"" []	3186899	\N	\N	EFO	5	EFO	disease	Hermansky-Pudlak syndrome type 8
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:231537	"" []	3186900	\N	\N	EFO	5	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Hermansky-Pudlak syndrome type 8
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231537	"" []	4394187	\N	\N	EFO	6	EFO	genetic disorder	Hermansky-Pudlak syndrome type 8
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:231537	"" []	4394188	\N	\N	EFO	6	EFO	skin disease	Hermansky-Pudlak syndrome type 8
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:231537	"" []	4394189	\N	\N	EFO	6	EFO	Rare genetic eye disease	Hermansky-Pudlak syndrome type 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231537	"" []	6778661	\N	\N	EFO	10	EFO	disposition	Hermansky-Pudlak syndrome type 8
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:231537	"" []	4394191	\N	\N	EFO	6	EFO	Rare genetic coagulation disorder	Hermansky-Pudlak syndrome type 8
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231537	"" []	5412471	\N	\N	EFO	7	EFO	disease	Hermansky-Pudlak syndrome type 8
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231537	"" []	5412472	\N	\N	EFO	7	EFO	genetic disorder	Hermansky-Pudlak syndrome type 8
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:231537	"" []	5412473	\N	\N	EFO	7	EFO	eye disease	Hermansky-Pudlak syndrome type 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231537	"" []	7029871	\N	\N	EFO	11	EFO	material property	Hermansky-Pudlak syndrome type 8
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:231537	"" []	5412475	\N	\N	EFO	7	EFO	Rare genetic hematologic disease	Hermansky-Pudlak syndrome type 8
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231537	"" []	6149338	\N	\N	EFO	8	EFO	disease	Hermansky-Pudlak syndrome type 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231537	"" []	7181762	\N	\N	EFO	12	EFO	experimental factor	Hermansky-Pudlak syndrome type 8
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231537	"" []	6149340	\N	\N	EFO	8	EFO	genetic disorder	Hermansky-Pudlak syndrome type 8
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:231537	"" []	6149341	\N	\N	EFO	8	EFO	hematological system disease	Hermansky-Pudlak syndrome type 8
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231537	"" []	6632589	\N	\N	EFO	9	EFO	disease	Hermansky-Pudlak syndrome type 8
Orphanet:231556	\N	\N	"" []	Orphanet:231556	"" []	74833	\N	\N	EFO	0	EFO	Late-onset localized junctional epidermolysis bullosa - intellectual disability	Late-onset localized junctional epidermolysis bullosa - intellectual disability
Orphanet:305	Orphanet:231556	\N	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	Orphanet:231556	"" []	217011	\N	\N	EFO	1	EFO	Junctional epidermolysis bullosa	Late-onset localized junctional epidermolysis bullosa - intellectual disability
EFO:1000690	Orphanet:305	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	Orphanet:231556	"" []	571675	\N	\N	EFO	2	EFO	epidermolysis bullosa	Late-onset localized junctional epidermolysis bullosa - intellectual disability
Orphanet:139027	Orphanet:305	\N	"" []	Orphanet:231556	"" []	571676	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Late-onset localized junctional epidermolysis bullosa - intellectual disability
Orphanet:79361	Orphanet:305	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:231556	"" []	571677	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Late-onset localized junctional epidermolysis bullosa - intellectual disability
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	Orphanet:231556	"" []	1153948	\N	\N	EFO	3	EFO	vesiculobullous skin disease	Late-onset localized junctional epidermolysis bullosa - intellectual disability
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:231556	"" []	1153949	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Late-onset localized junctional epidermolysis bullosa - intellectual disability
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:231556	"" []	1153950	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Late-onset localized junctional epidermolysis bullosa - intellectual disability
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:231556	"" []	2036541	\N	\N	EFO	4	EFO	skin disease	Late-onset localized junctional epidermolysis bullosa - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231556	"" []	2036542	\N	\N	EFO	4	EFO	genetic disorder	Late-onset localized junctional epidermolysis bullosa - intellectual disability
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:231556	"" []	2036543	\N	\N	EFO	4	EFO	Rare genetic skin disease	Late-onset localized junctional epidermolysis bullosa - intellectual disability
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231556	"" []	4394194	\N	\N	EFO	6	EFO	disease	Late-onset localized junctional epidermolysis bullosa - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231556	"" []	4394193	\N	\N	EFO	6	EFO	disease	Late-onset localized junctional epidermolysis bullosa - intellectual disability
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231556	"" []	3186903	\N	\N	EFO	5	EFO	genetic disorder	Late-onset localized junctional epidermolysis bullosa - intellectual disability
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:231556	"" []	3186904	\N	\N	EFO	5	EFO	skin disease	Late-onset localized junctional epidermolysis bullosa - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231556	"" []	5182081	\N	\N	EFO	7	EFO	disposition	Late-onset localized junctional epidermolysis bullosa - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231556	"" []	5997458	\N	\N	EFO	8	EFO	material property	Late-onset localized junctional epidermolysis bullosa - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231556	"" []	6550854	\N	\N	EFO	9	EFO	experimental factor	Late-onset localized junctional epidermolysis bullosa - intellectual disability
Orphanet:231568	\N	\N	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	74834	\N	\N	EFO	0	EFO	Generalized dominant dystrophic epidermolysis bullosa	Generalized dominant dystrophic epidermolysis bullosa
Orphanet:303	Orphanet:231568	\N	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	217012	\N	\N	EFO	1	EFO	Dystrophic epidermolysis bullosa	Generalized dominant dystrophic epidermolysis bullosa
Orphanet:139027	Orphanet:303	\N	"" []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	571678	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Generalized dominant dystrophic epidermolysis bullosa
Orphanet:79361	Orphanet:303	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	571679	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Generalized dominant dystrophic epidermolysis bullosa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	1153951	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Generalized dominant dystrophic epidermolysis bullosa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	1153952	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Generalized dominant dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	2036544	\N	\N	EFO	4	EFO	genetic disorder	Generalized dominant dystrophic epidermolysis bullosa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	2036545	\N	\N	EFO	4	EFO	Rare genetic skin disease	Generalized dominant dystrophic epidermolysis bullosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	4394196	\N	\N	EFO	6	EFO	disease	Generalized dominant dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	3186906	\N	\N	EFO	5	EFO	genetic disorder	Generalized dominant dystrophic epidermolysis bullosa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	3186907	\N	\N	EFO	5	EFO	skin disease	Generalized dominant dystrophic epidermolysis bullosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	5182082	\N	\N	EFO	7	EFO	disposition	Generalized dominant dystrophic epidermolysis bullosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	4394197	\N	\N	EFO	6	EFO	disease	Generalized dominant dystrophic epidermolysis bullosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	5997459	\N	\N	EFO	8	EFO	material property	Generalized dominant dystrophic epidermolysis bullosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231568	"Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." []	6550855	\N	\N	EFO	9	EFO	experimental factor	Generalized dominant dystrophic epidermolysis bullosa
Orphanet:2316	\N	\N	"" []	Orphanet:2316	"" []	74835	\N	\N	EFO	0	EFO	Johnson neuroectodermal syndrome	Johnson neuroectodermal syndrome
Orphanet:102283	Orphanet:2316	\N	"" []	Orphanet:2316	"" []	217013	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Johnson neuroectodermal syndrome
Orphanet:183763	Orphanet:2316	\N	"" []	Orphanet:2316	"" []	217014	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Johnson neuroectodermal syndrome
Orphanet:79373	Orphanet:2316	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2316	"" []	217015	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Johnson neuroectodermal syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2316	"" []	571680	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Johnson neuroectodermal syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2316	"" []	571681	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Johnson neuroectodermal syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2316	"" []	571682	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Johnson neuroectodermal syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2316	"" []	571683	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Johnson neuroectodermal syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2316	"" []	1153953	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Johnson neuroectodermal syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2316	"" []	1153954	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Johnson neuroectodermal syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2316	"" []	1153955	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Johnson neuroectodermal syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2316	"" []	1153956	\N	\N	EFO	3	EFO	Rare genetic skin disease	Johnson neuroectodermal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2316	"" []	2036546	\N	\N	EFO	4	EFO	genetic disorder	Johnson neuroectodermal syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2316	"" []	2036547	\N	\N	EFO	4	EFO	genetic disorder	Johnson neuroectodermal syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2316	"" []	2036548	\N	\N	EFO	4	EFO	genetic disorder	Johnson neuroectodermal syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2316	"" []	2036549	\N	\N	EFO	4	EFO	skin disease	Johnson neuroectodermal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2316	"" []	3186908	\N	\N	EFO	5	EFO	disease	Johnson neuroectodermal syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2316	"" []	3186909	\N	\N	EFO	5	EFO	disease	Johnson neuroectodermal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2316	"" []	4394198	\N	\N	EFO	6	EFO	disposition	Johnson neuroectodermal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2316	"" []	5412478	\N	\N	EFO	7	EFO	material property	Johnson neuroectodermal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2316	"" []	6149344	\N	\N	EFO	8	EFO	experimental factor	Johnson neuroectodermal syndrome
Orphanet:231662	\N	\N	"" []	Orphanet:231662	"" []	74836	\N	\N	EFO	0	EFO	Isolated growth hormone deficiency type IA	Isolated growth hormone deficiency type IA
Orphanet:631	Orphanet:231662	\N	"" []	Orphanet:231662	"" []	217016	\N	\N	EFO	1	EFO	Non-acquired isolated growth hormone deficiency	Isolated growth hormone deficiency type IA
Orphanet:95488	Orphanet:631	\N	"" []	Orphanet:231662	"" []	571684	\N	\N	EFO	2	EFO	Non-acquired pituitary hormone deficiency	Isolated growth hormone deficiency type IA
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:231662	"" []	1153957	\N	\N	EFO	3	EFO	Pituitary deficiency	Isolated growth hormone deficiency type IA
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:231662	"" []	2036550	\N	\N	EFO	4	EFO	Rare genetic hypothalamic or pituitary disease	Isolated growth hormone deficiency type IA
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:231662	"" []	3186910	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Isolated growth hormone deficiency type IA
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231662	"" []	4394199	\N	\N	EFO	6	EFO	genetic disorder	Isolated growth hormone deficiency type IA
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:231662	"" []	4394200	\N	\N	EFO	6	EFO	endocrine system disease	Isolated growth hormone deficiency type IA
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231662	"" []	5412479	\N	\N	EFO	7	EFO	disease	Isolated growth hormone deficiency type IA
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231662	"" []	5412480	\N	\N	EFO	7	EFO	disease	Isolated growth hormone deficiency type IA
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231662	"" []	6149345	\N	\N	EFO	8	EFO	disposition	Isolated growth hormone deficiency type IA
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231662	"" []	6632590	\N	\N	EFO	9	EFO	material property	Isolated growth hormone deficiency type IA
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231662	"" []	6925573	\N	\N	EFO	10	EFO	experimental factor	Isolated growth hormone deficiency type IA
Orphanet:231671	\N	\N	"" []	Orphanet:231671	"" []	74837	\N	\N	EFO	0	EFO	Isolated growth hormone deficiency type IB	Isolated growth hormone deficiency type IB
Orphanet:631	Orphanet:231671	\N	"" []	Orphanet:231671	"" []	217017	\N	\N	EFO	1	EFO	Non-acquired isolated growth hormone deficiency	Isolated growth hormone deficiency type IB
Orphanet:95488	Orphanet:631	\N	"" []	Orphanet:231671	"" []	571685	\N	\N	EFO	2	EFO	Non-acquired pituitary hormone deficiency	Isolated growth hormone deficiency type IB
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:231671	"" []	1153958	\N	\N	EFO	3	EFO	Pituitary deficiency	Isolated growth hormone deficiency type IB
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:231671	"" []	2036551	\N	\N	EFO	4	EFO	Rare genetic hypothalamic or pituitary disease	Isolated growth hormone deficiency type IB
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:231671	"" []	3186911	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Isolated growth hormone deficiency type IB
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231671	"" []	4394201	\N	\N	EFO	6	EFO	genetic disorder	Isolated growth hormone deficiency type IB
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:231671	"" []	4394202	\N	\N	EFO	6	EFO	endocrine system disease	Isolated growth hormone deficiency type IB
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231671	"" []	5412481	\N	\N	EFO	7	EFO	disease	Isolated growth hormone deficiency type IB
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231671	"" []	5412482	\N	\N	EFO	7	EFO	disease	Isolated growth hormone deficiency type IB
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231671	"" []	6149346	\N	\N	EFO	8	EFO	disposition	Isolated growth hormone deficiency type IB
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231671	"" []	6632591	\N	\N	EFO	9	EFO	material property	Isolated growth hormone deficiency type IB
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231671	"" []	6925574	\N	\N	EFO	10	EFO	experimental factor	Isolated growth hormone deficiency type IB
Orphanet:231679	\N	\N	"" []	Orphanet:231679	"" []	74838	\N	\N	EFO	0	EFO	Isolated growth hormone deficiency type II	Isolated growth hormone deficiency type II
Orphanet:631	Orphanet:231679	\N	"" []	Orphanet:231679	"" []	217018	\N	\N	EFO	1	EFO	Non-acquired isolated growth hormone deficiency	Isolated growth hormone deficiency type II
Orphanet:95488	Orphanet:631	\N	"" []	Orphanet:231679	"" []	571686	\N	\N	EFO	2	EFO	Non-acquired pituitary hormone deficiency	Isolated growth hormone deficiency type II
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:231679	"" []	1153959	\N	\N	EFO	3	EFO	Pituitary deficiency	Isolated growth hormone deficiency type II
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:231679	"" []	2036552	\N	\N	EFO	4	EFO	Rare genetic hypothalamic or pituitary disease	Isolated growth hormone deficiency type II
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:231679	"" []	3186912	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Isolated growth hormone deficiency type II
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231679	"" []	4394203	\N	\N	EFO	6	EFO	genetic disorder	Isolated growth hormone deficiency type II
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:231679	"" []	4394204	\N	\N	EFO	6	EFO	endocrine system disease	Isolated growth hormone deficiency type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231679	"" []	5412483	\N	\N	EFO	7	EFO	disease	Isolated growth hormone deficiency type II
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231679	"" []	5412484	\N	\N	EFO	7	EFO	disease	Isolated growth hormone deficiency type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231679	"" []	6149347	\N	\N	EFO	8	EFO	disposition	Isolated growth hormone deficiency type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231679	"" []	6632592	\N	\N	EFO	9	EFO	material property	Isolated growth hormone deficiency type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231679	"" []	6925575	\N	\N	EFO	10	EFO	experimental factor	Isolated growth hormone deficiency type II
Orphanet:231692	\N	\N	"" []	Orphanet:231692	"" []	74839	\N	\N	EFO	0	EFO	Isolated growth hormone deficiency type III	Isolated growth hormone deficiency type III
Orphanet:631	Orphanet:231692	\N	"" []	Orphanet:231692	"" []	217019	\N	\N	EFO	1	EFO	Non-acquired isolated growth hormone deficiency	Isolated growth hormone deficiency type III
Orphanet:95488	Orphanet:631	\N	"" []	Orphanet:231692	"" []	571687	\N	\N	EFO	2	EFO	Non-acquired pituitary hormone deficiency	Isolated growth hormone deficiency type III
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:231692	"" []	1153960	\N	\N	EFO	3	EFO	Pituitary deficiency	Isolated growth hormone deficiency type III
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:231692	"" []	2036553	\N	\N	EFO	4	EFO	Rare genetic hypothalamic or pituitary disease	Isolated growth hormone deficiency type III
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:231692	"" []	3186913	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Isolated growth hormone deficiency type III
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231692	"" []	4394205	\N	\N	EFO	6	EFO	genetic disorder	Isolated growth hormone deficiency type III
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:231692	"" []	4394206	\N	\N	EFO	6	EFO	endocrine system disease	Isolated growth hormone deficiency type III
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231692	"" []	5412485	\N	\N	EFO	7	EFO	disease	Isolated growth hormone deficiency type III
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231692	"" []	5412486	\N	\N	EFO	7	EFO	disease	Isolated growth hormone deficiency type III
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231692	"" []	6149348	\N	\N	EFO	8	EFO	disposition	Isolated growth hormone deficiency type III
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231692	"" []	6632593	\N	\N	EFO	9	EFO	material property	Isolated growth hormone deficiency type III
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231692	"" []	6925576	\N	\N	EFO	10	EFO	experimental factor	Isolated growth hormone deficiency type III
Orphanet:231720	\N	\N	"" []	Orphanet:231720	"" []	74840	\N	\N	EFO	0	EFO	Non-acquired combined pituitary hormone deficiency with spine abnormalities	Non-acquired combined pituitary hormone deficiency with spine abnormalities
Orphanet:95495	Orphanet:231720	\N	"" []	Orphanet:231720	"" []	217020	\N	\N	EFO	1	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Non-acquired combined pituitary hormone deficiency with spine abnormalities
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:231720	"" []	571688	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	Non-acquired combined pituitary hormone deficiency with spine abnormalities
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:231720	"" []	1153961	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Non-acquired combined pituitary hormone deficiency with spine abnormalities
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:231720	"" []	2036554	\N	\N	EFO	4	EFO	Pituitary deficiency	Non-acquired combined pituitary hormone deficiency with spine abnormalities
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:231720	"" []	3186914	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Non-acquired combined pituitary hormone deficiency with spine abnormalities
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:231720	"" []	4394207	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Non-acquired combined pituitary hormone deficiency with spine abnormalities
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231720	"" []	5412487	\N	\N	EFO	7	EFO	genetic disorder	Non-acquired combined pituitary hormone deficiency with spine abnormalities
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:231720	"" []	5412488	\N	\N	EFO	7	EFO	endocrine system disease	Non-acquired combined pituitary hormone deficiency with spine abnormalities
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231720	"" []	6149349	\N	\N	EFO	8	EFO	disease	Non-acquired combined pituitary hormone deficiency with spine abnormalities
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231720	"" []	6149350	\N	\N	EFO	8	EFO	disease	Non-acquired combined pituitary hormone deficiency with spine abnormalities
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231720	"" []	6632594	\N	\N	EFO	9	EFO	disposition	Non-acquired combined pituitary hormone deficiency with spine abnormalities
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231720	"" []	6925577	\N	\N	EFO	10	EFO	material property	Non-acquired combined pituitary hormone deficiency with spine abnormalities
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231720	"" []	7099059	\N	\N	EFO	11	EFO	experimental factor	Non-acquired combined pituitary hormone deficiency with spine abnormalities
Orphanet:231742	\N	\N	"Epibulbar lipodermoid ? preauricular appendages ? polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." []	Orphanet:231742	"Epibulbar lipodermoid ? preauricular appendages ? polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." []	74841	\N	\N	EFO	0	EFO	Epibulbar lipodermoid - preauricular appendage - polythelia	Epibulbar lipodermoid - preauricular appendage - polythelia
Orphanet:183576	Orphanet:231742	\N	"" []	Orphanet:231742	"Epibulbar lipodermoid ? preauricular appendages ? polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." []	217021	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Epibulbar lipodermoid - preauricular appendage - polythelia
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:231742	"Epibulbar lipodermoid ? preauricular appendages ? polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." []	571689	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Epibulbar lipodermoid - preauricular appendage - polythelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:231742	"Epibulbar lipodermoid ? preauricular appendages ? polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." []	1153962	\N	\N	EFO	3	EFO	genetic disorder	Epibulbar lipodermoid - preauricular appendage - polythelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:231742	"Epibulbar lipodermoid ? preauricular appendages ? polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." []	2036555	\N	\N	EFO	4	EFO	disease	Epibulbar lipodermoid - preauricular appendage - polythelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:231742	"Epibulbar lipodermoid ? preauricular appendages ? polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." []	3186915	\N	\N	EFO	5	EFO	disposition	Epibulbar lipodermoid - preauricular appendage - polythelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:231742	"Epibulbar lipodermoid ? preauricular appendages ? polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." []	4394208	\N	\N	EFO	6	EFO	material property	Epibulbar lipodermoid - preauricular appendage - polythelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:231742	"Epibulbar lipodermoid ? preauricular appendages ? polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." []	5412489	\N	\N	EFO	7	EFO	experimental factor	Epibulbar lipodermoid - preauricular appendage - polythelia
Orphanet:2318	\N	\N	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	74842	\N	\N	EFO	0	EFO	Joubert syndrome with oculorenal defect	Joubert syndrome with oculorenal defect
Orphanet:140874	Orphanet:2318	\N	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	217022	\N	\N	EFO	1	EFO	Joubert syndrome and related disorders	Joubert syndrome with oculorenal defect
Orphanet:269567	Orphanet:2318	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	217023	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Joubert syndrome with oculorenal defect
Orphanet:93587	Orphanet:2318	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	217024	\N	\N	EFO	1	EFO	Familial cystic renal disease	Joubert syndrome with oculorenal defect
Orphanet:98661	Orphanet:2318	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	217025	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Joubert syndrome with oculorenal defect
Orphanet:98688	Orphanet:2318	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	217026	\N	\N	EFO	1	EFO	Oculomotor apraxia or related oculomotor disease	Joubert syndrome with oculorenal defect
Orphanet:98095	Orphanet:140874	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	571690	\N	\N	EFO	2	EFO	Autosomal recessive congenital cerebellar ataxia	Joubert syndrome with oculorenal defect
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	571691	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Joubert syndrome with oculorenal defect
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	571692	\N	\N	EFO	2	EFO	kidney disease	Joubert syndrome with oculorenal defect
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	571693	\N	\N	EFO	2	EFO	Rare genetic renal disease	Joubert syndrome with oculorenal defect
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	571694	\N	\N	EFO	2	EFO	Retinal dystrophy	Joubert syndrome with oculorenal defect
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	571695	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Joubert syndrome with oculorenal defect
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	1153963	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Joubert syndrome with oculorenal defect
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	1153964	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Joubert syndrome with oculorenal defect
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	1153965	\N	\N	EFO	3	EFO	disease	Joubert syndrome with oculorenal defect
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	1153966	\N	\N	EFO	3	EFO	genetic disorder	Joubert syndrome with oculorenal defect
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	1153967	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Joubert syndrome with oculorenal defect
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	5412492	\N	\N	EFO	7	EFO	Rare genetic eye disease	Joubert syndrome with oculorenal defect
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	2036556	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Joubert syndrome with oculorenal defect
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	2036557	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Joubert syndrome with oculorenal defect
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	2036558	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Joubert syndrome with oculorenal defect
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	2036559	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Joubert syndrome with oculorenal defect
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	2036560	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Joubert syndrome with oculorenal defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	7008641	\N	\N	EFO	11	EFO	disposition	Joubert syndrome with oculorenal defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	6778662	\N	\N	EFO	10	EFO	disease	Joubert syndrome with oculorenal defect
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	2036563	\N	\N	EFO	4	EFO	Rare genetic eye disease	Joubert syndrome with oculorenal defect
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	5801852	\N	\N	EFO	8	EFO	genetic disorder	Joubert syndrome with oculorenal defect
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	5801853	\N	\N	EFO	8	EFO	eye disease	Joubert syndrome with oculorenal defect
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	3186916	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Joubert syndrome with oculorenal defect
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	3186917	\N	\N	EFO	5	EFO	Ataxia with dementia	Joubert syndrome with oculorenal defect
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	3186918	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Joubert syndrome with oculorenal defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	3186919	\N	\N	EFO	5	EFO	genetic disorder	Joubert syndrome with oculorenal defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	6632596	\N	\N	EFO	9	EFO	genetic disorder	Joubert syndrome with oculorenal defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	7164488	\N	\N	EFO	12	EFO	material property	Joubert syndrome with oculorenal defect
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	6378865	\N	\N	EFO	9	EFO	disease	Joubert syndrome with oculorenal defect
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	4394210	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Joubert syndrome with oculorenal defect
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	4394211	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Joubert syndrome with oculorenal defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	7269842	\N	\N	EFO	13	EFO	experimental factor	Joubert syndrome with oculorenal defect
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	5412490	\N	\N	EFO	7	EFO	Genetic dementia	Joubert syndrome with oculorenal defect
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	5412491	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Joubert syndrome with oculorenal defect
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	6149351	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome with oculorenal defect
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	6149352	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome with oculorenal defect
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	6149353	\N	\N	EFO	8	EFO	neurodegenerative disease	Joubert syndrome with oculorenal defect
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	6149354	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome with oculorenal defect
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	6149355	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome with oculorenal defect
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	6632595	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome with oculorenal defect
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	6632597	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome with oculorenal defect
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2318	"Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." []	6925578	\N	\N	EFO	10	EFO	disease	Joubert syndrome with oculorenal defect
Orphanet:2319	\N	\N	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	74843	\N	\N	EFO	0	EFO	Juberg-Hayward syndrome	Juberg-Hayward syndrome
Orphanet:139039	Orphanet:2319	\N	"" []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	217027	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Juberg-Hayward syndrome
Orphanet:330206	Orphanet:2319	\N	"" []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	217028	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Juberg-Hayward syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	571696	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Juberg-Hayward syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	571697	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Juberg-Hayward syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	1153969	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Juberg-Hayward syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	1153970	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Juberg-Hayward syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	2036566	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Juberg-Hayward syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	4394213	\N	\N	EFO	6	EFO	genetic disorder	Juberg-Hayward syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	3186927	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Juberg-Hayward syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	5059785	\N	\N	EFO	7	EFO	disease	Juberg-Hayward syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	5877035	\N	\N	EFO	8	EFO	disposition	Juberg-Hayward syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	6470258	\N	\N	EFO	9	EFO	material property	Juberg-Hayward syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2319	"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." []	6848430	\N	\N	EFO	10	EFO	experimental factor	Juberg-Hayward syndrome
Orphanet:232	\N	\N	"" []	Orphanet:232	"" []	74844	\N	\N	EFO	0	EFO	Sickle cell anemia	Sickle cell anemia
Orphanet:181387	Orphanet:232	\N	"" []	Orphanet:232	"" []	217029	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Sickle cell anemia
Orphanet:275752	Orphanet:232	\N	"" []	Orphanet:232	"" []	217030	\N	\N	EFO	1	EFO	Sickle cell disease and related diseases	Sickle cell anemia
Orphanet:399185	Orphanet:232	\N	"" []	Orphanet:232	"" []	217031	\N	\N	EFO	1	EFO	Rare hereditary disease with avascular necrosis	Sickle cell anemia
Orphanet:93614	Orphanet:232	\N	"" []	Orphanet:232	"" []	217032	\N	\N	EFO	1	EFO	Hematological disorder with renal involvement	Sickle cell anemia
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:232	"" []	571698	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Sickle cell anemia
Orphanet:68364	Orphanet:275752	\N	"" []	Orphanet:232	"" []	571699	\N	\N	EFO	2	EFO	Hemoglobinopathy	Sickle cell anemia
Orphanet:399388	Orphanet:399185	\N	"" []	Orphanet:232	"" []	571700	\N	\N	EFO	2	EFO	Avascular necrosis of genetic origin	Sickle cell anemia
EFO:0005803	Orphanet:93614	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:232	"" []	571701	\N	\N	EFO	2	EFO	hematological system disease	Sickle cell anemia
Orphanet:98056	Orphanet:93614	\N	"" []	Orphanet:232	"" []	571702	\N	\N	EFO	2	EFO	Rare genetic renal disease	Sickle cell anemia
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:232	"" []	1153971	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Sickle cell anemia
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:232	"" []	1153972	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Sickle cell anemia
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:232	"" []	1153973	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Sickle cell anemia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:232	"" []	1153974	\N	\N	EFO	3	EFO	Rare constitutional anemia	Sickle cell anemia
Orphanet:399380	Orphanet:399388	\N	"" []	Orphanet:232	"" []	1153975	\N	\N	EFO	3	EFO	Osteonecrosis of genetic origin	Sickle cell anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:232	"" []	4394220	\N	\N	EFO	6	EFO	disease	Sickle cell anemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:232	"" []	1153977	\N	\N	EFO	3	EFO	genetic disorder	Sickle cell anemia
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:232	"" []	2036568	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Sickle cell anemia
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:232	"" []	2036569	\N	\N	EFO	4	EFO	Rare genetic male infertility	Sickle cell anemia
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:232	"" []	2036570	\N	\N	EFO	4	EFO	Pituitary deficiency	Sickle cell anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:232	"" []	2036571	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Sickle cell anemia
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:232	"" []	2036572	\N	\N	EFO	4	EFO	Rare genetic bone disease	Sickle cell anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:232	"" []	6378867	\N	\N	EFO	9	EFO	disposition	Sickle cell anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:232	"" []	6149357	\N	\N	EFO	8	EFO	disease	Sickle cell anemia
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:232	"" []	3186929	\N	\N	EFO	5	EFO	genetic disorder	Sickle cell anemia
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:232	"" []	3186930	\N	\N	EFO	5	EFO	reproductive system disease	Sickle cell anemia
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:232	"" []	3186931	\N	\N	EFO	5	EFO	Genetic infertility	Sickle cell anemia
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:232	"" []	3186932	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Sickle cell anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:232	"" []	3186933	\N	\N	EFO	5	EFO	genetic disorder	Sickle cell anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:232	"" []	3186934	\N	\N	EFO	5	EFO	hematological system disease	Sickle cell anemia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:232	"" []	3186935	\N	\N	EFO	5	EFO	genetic disorder	Sickle cell anemia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:232	"" []	3186936	\N	\N	EFO	5	EFO	bone disease	Sickle cell anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:232	"" []	6762369	\N	\N	EFO	10	EFO	material property	Sickle cell anemia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:232	"" []	5412495	\N	\N	EFO	7	EFO	disease	Sickle cell anemia
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:232	"" []	4394217	\N	\N	EFO	6	EFO	genetic disorder	Sickle cell anemia
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:232	"" []	4394218	\N	\N	EFO	6	EFO	reproductive system disease	Sickle cell anemia
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:232	"" []	4394219	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Sickle cell anemia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:232	"" []	4394221	\N	\N	EFO	6	EFO	skeletal system disease	Sickle cell anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:232	"" []	7015676	\N	\N	EFO	11	EFO	experimental factor	Sickle cell anemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:232	"" []	5412496	\N	\N	EFO	7	EFO	genetic disorder	Sickle cell anemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:232	"" []	5412497	\N	\N	EFO	7	EFO	endocrine system disease	Sickle cell anemia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:232	"" []	5412498	\N	\N	EFO	7	EFO	disease	Sickle cell anemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:232	"" []	6149358	\N	\N	EFO	8	EFO	disease	Sickle cell anemia
Orphanet:2322	\N	\N	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	74845	\N	\N	EFO	0	EFO	Kabuki syndrome	Kabuki syndrome
Orphanet:102283	Orphanet:2322	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	217033	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Kabuki syndrome
Orphanet:117573	Orphanet:2322	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	217034	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Kabuki syndrome
Orphanet:138063	Orphanet:2322	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	217035	\N	\N	EFO	1	EFO	Syndrome associated with Pierre Robin syndrome	Kabuki syndrome
Orphanet:183570	Orphanet:2322	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	217036	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Kabuki syndrome
Orphanet:183763	Orphanet:2322	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	217037	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Kabuki syndrome
Orphanet:98568	Orphanet:2322	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	217038	\N	\N	EFO	1	EFO	Congenital entropion	Kabuki syndrome
Orphanet:98570	Orphanet:2322	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	217039	\N	\N	EFO	1	EFO	Congenital ectropion	Kabuki syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	571703	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Kabuki syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	571704	\N	\N	EFO	2	EFO	Anorectal malformation	Kabuki syndrome
Orphanet:363294	Orphanet:138063	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	571705	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Kabuki syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	571706	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Kabuki syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	571707	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Kabuki syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	571708	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Kabuki syndrome
Orphanet:98567	Orphanet:98570	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	571709	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Kabuki syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	1153978	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Kabuki syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	1153979	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Kabuki syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	1153980	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Kabuki syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	5412499	\N	\N	EFO	7	EFO	genetic disorder	Kabuki syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	1153982	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Kabuki syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	1153983	\N	\N	EFO	3	EFO	Rare palpebral disease	Kabuki syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	2036576	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Kabuki syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	2036577	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Kabuki syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	5801854	\N	\N	EFO	8	EFO	disease	Kabuki syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	2036579	\N	\N	EFO	4	EFO	genetic disorder	Kabuki syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	2036580	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Kabuki syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	3186940	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Kabuki syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	6378868	\N	\N	EFO	9	EFO	disposition	Kabuki syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	3186942	\N	\N	EFO	5	EFO	Rare genetic eye disease	Kabuki syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	4394223	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Kabuki syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	6778665	\N	\N	EFO	10	EFO	material property	Kabuki syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	4394225	\N	\N	EFO	6	EFO	genetic disorder	Kabuki syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	4394226	\N	\N	EFO	6	EFO	eye disease	Kabuki syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	7029872	\N	\N	EFO	11	EFO	experimental factor	Kabuki syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2322	"Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." []	5412502	\N	\N	EFO	7	EFO	disease	Kabuki syndrome
Orphanet:232288	\N	\N	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	74846	\N	\N	EFO	0	EFO	Alpha-thalassemia-related diseases	Alpha-thalassemia-related diseases
Orphanet:275745	Orphanet:232288	\N	"" []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	217040	\N	\N	EFO	1	EFO	Alpha-thalassemia and related diseases	Alpha-thalassemia-related diseases
EFO:1001996	Orphanet:275745	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	571710	\N	\N	EFO	2	EFO	Thalassemia	Alpha-thalassemia-related diseases
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	1153984	\N	\N	EFO	3	EFO	Hemoglobinopathy	Alpha-thalassemia-related diseases
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	2036581	\N	\N	EFO	4	EFO	Rare constitutional anemia	Alpha-thalassemia-related diseases
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	3186943	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Alpha-thalassemia-related diseases
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	4394227	\N	\N	EFO	6	EFO	genetic disorder	Alpha-thalassemia-related diseases
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	4394228	\N	\N	EFO	6	EFO	hematological system disease	Alpha-thalassemia-related diseases
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	5412503	\N	\N	EFO	7	EFO	disease	Alpha-thalassemia-related diseases
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	5412504	\N	\N	EFO	7	EFO	disease	Alpha-thalassemia-related diseases
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	6149359	\N	\N	EFO	8	EFO	disposition	Alpha-thalassemia-related diseases
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	6632598	\N	\N	EFO	9	EFO	material property	Alpha-thalassemia-related diseases
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:232288	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	6925579	\N	\N	EFO	10	EFO	experimental factor	Alpha-thalassemia-related diseases
Orphanet:2323	\N	\N	"" []	Orphanet:2323	"" []	74847	\N	\N	EFO	0	EFO	Sanjad-Sakati syndrome	Sanjad-Sakati syndrome
Orphanet:102283	Orphanet:2323	\N	"" []	Orphanet:2323	"" []	217041	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Sanjad-Sakati syndrome
Orphanet:181402	Orphanet:2323	\N	"" []	Orphanet:2323	"" []	217042	\N	\N	EFO	1	EFO	Syndrome with hypoparathyroidism	Sanjad-Sakati syndrome
Orphanet:183763	Orphanet:2323	\N	"" []	Orphanet:2323	"" []	217043	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Sanjad-Sakati syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2323	"" []	571711	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Sanjad-Sakati syndrome
Orphanet:208593	Orphanet:181402	\N	"" []	Orphanet:2323	"" []	571712	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Sanjad-Sakati syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2323	"" []	571713	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Sanjad-Sakati syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2323	"" []	1153985	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Sanjad-Sakati syndrome
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:2323	"" []	1153986	\N	\N	EFO	3	EFO	parathyroid disease	Sanjad-Sakati syndrome
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:2323	"" []	1153987	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Sanjad-Sakati syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2323	"" []	1153988	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Sanjad-Sakati syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2323	"" []	2036582	\N	\N	EFO	4	EFO	genetic disorder	Sanjad-Sakati syndrome
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:2323	"" []	2036583	\N	\N	EFO	4	EFO	calcium metabolic disease	Sanjad-Sakati syndrome
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:2323	"" []	2036584	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Sanjad-Sakati syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2323	"" []	2036585	\N	\N	EFO	4	EFO	genetic disorder	Sanjad-Sakati syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2323	"" []	4394231	\N	\N	EFO	6	EFO	disease	Sanjad-Sakati syndrome
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2323	"" []	3186945	\N	\N	EFO	5	EFO	metabolic disease	Sanjad-Sakati syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2323	"" []	3186946	\N	\N	EFO	5	EFO	genetic disorder	Sanjad-Sakati syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2323	"" []	3186947	\N	\N	EFO	5	EFO	endocrine system disease	Sanjad-Sakati syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2323	"" []	5182087	\N	\N	EFO	7	EFO	disposition	Sanjad-Sakati syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2323	"" []	4394230	\N	\N	EFO	6	EFO	disease	Sanjad-Sakati syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2323	"" []	4394232	\N	\N	EFO	6	EFO	disease	Sanjad-Sakati syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2323	"" []	5997461	\N	\N	EFO	8	EFO	material property	Sanjad-Sakati syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2323	"" []	6550856	\N	\N	EFO	9	EFO	experimental factor	Sanjad-Sakati syndrome
Orphanet:2324	\N	\N	"" []	Orphanet:2324	"" []	74848	\N	\N	EFO	0	EFO	Kaler-Garrity-Stern syndrome	Kaler-Garrity-Stern syndrome
Orphanet:183763	Orphanet:2324	\N	"" []	Orphanet:2324	"" []	217044	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Kaler-Garrity-Stern syndrome
Orphanet:93446	Orphanet:2324	\N	"" []	Orphanet:2324	"" []	217045	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Kaler-Garrity-Stern syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2324	"" []	571714	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Kaler-Garrity-Stern syndrome
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:2324	"" []	571715	\N	\N	EFO	2	EFO	Primary bone dysplasia	Kaler-Garrity-Stern syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2324	"" []	1153989	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Kaler-Garrity-Stern syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2324	"" []	1153990	\N	\N	EFO	3	EFO	Rare genetic bone disease	Kaler-Garrity-Stern syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2324	"" []	1153991	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Kaler-Garrity-Stern syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2324	"" []	2036586	\N	\N	EFO	4	EFO	genetic disorder	Kaler-Garrity-Stern syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2324	"" []	2036587	\N	\N	EFO	4	EFO	genetic disorder	Kaler-Garrity-Stern syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2324	"" []	2036588	\N	\N	EFO	4	EFO	bone disease	Kaler-Garrity-Stern syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2324	"" []	2036589	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Kaler-Garrity-Stern syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2324	"" []	4394235	\N	\N	EFO	6	EFO	disease	Kaler-Garrity-Stern syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2324	"" []	3186949	\N	\N	EFO	5	EFO	skeletal system disease	Kaler-Garrity-Stern syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2324	"" []	3186950	\N	\N	EFO	5	EFO	genetic disorder	Kaler-Garrity-Stern syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2324	"" []	5182088	\N	\N	EFO	7	EFO	disposition	Kaler-Garrity-Stern syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2324	"" []	4394234	\N	\N	EFO	6	EFO	disease	Kaler-Garrity-Stern syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2324	"" []	5997462	\N	\N	EFO	8	EFO	material property	Kaler-Garrity-Stern syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2324	"" []	6550857	\N	\N	EFO	9	EFO	experimental factor	Kaler-Garrity-Stern syndrome
Orphanet:2325	\N	\N	"" []	Orphanet:2325	"" []	74849	\N	\N	EFO	0	EFO	Epidermolysis bullosa simplex with anodontia/hypodontia	Epidermolysis bullosa simplex with anodontia/hypodontia
Orphanet:304	Orphanet:2325	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:2325	"" []	217046	\N	\N	EFO	1	EFO	Epidermolysis bullosa simplex	Epidermolysis bullosa simplex with anodontia/hypodontia
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:2325	"" []	571716	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Epidermolysis bullosa simplex with anodontia/hypodontia
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:2325	"" []	1153992	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Epidermolysis bullosa simplex with anodontia/hypodontia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2325	"" []	2036590	\N	\N	EFO	4	EFO	Rare genetic skin disease	Epidermolysis bullosa simplex with anodontia/hypodontia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2325	"" []	3186951	\N	\N	EFO	5	EFO	genetic disorder	Epidermolysis bullosa simplex with anodontia/hypodontia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2325	"" []	3186952	\N	\N	EFO	5	EFO	skin disease	Epidermolysis bullosa simplex with anodontia/hypodontia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2325	"" []	4394236	\N	\N	EFO	6	EFO	disease	Epidermolysis bullosa simplex with anodontia/hypodontia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2325	"" []	4394237	\N	\N	EFO	6	EFO	disease	Epidermolysis bullosa simplex with anodontia/hypodontia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2325	"" []	5412507	\N	\N	EFO	7	EFO	disposition	Epidermolysis bullosa simplex with anodontia/hypodontia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2325	"" []	6149362	\N	\N	EFO	8	EFO	material property	Epidermolysis bullosa simplex with anodontia/hypodontia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2325	"" []	6632599	\N	\N	EFO	9	EFO	experimental factor	Epidermolysis bullosa simplex with anodontia/hypodontia
Orphanet:2326	\N	\N	"" []	Orphanet:2326	"" []	74850	\N	\N	EFO	0	EFO	Kallmann syndrome - heart disease	Kallmann syndrome - heart disease
Orphanet:181387	Orphanet:2326	\N	"" []	Orphanet:2326	"" []	217047	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Kallmann syndrome - heart disease
Orphanet:330197	Orphanet:2326	\N	"" []	Orphanet:2326	"" []	217048	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Kallmann syndrome - heart disease
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:2326	"" []	571717	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Kallmann syndrome - heart disease
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2326	"" []	571718	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Kallmann syndrome - heart disease
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:2326	"" []	1153993	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Kallmann syndrome - heart disease
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:2326	"" []	1153994	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Kallmann syndrome - heart disease
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:2326	"" []	1153995	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Kallmann syndrome - heart disease
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2326	"" []	1153996	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Kallmann syndrome - heart disease
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:2326	"" []	2036591	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Kallmann syndrome - heart disease
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2326	"" []	2036592	\N	\N	EFO	4	EFO	Rare genetic male infertility	Kallmann syndrome - heart disease
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:2326	"" []	2036593	\N	\N	EFO	4	EFO	Pituitary deficiency	Kallmann syndrome - heart disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2326	"" []	2036594	\N	\N	EFO	4	EFO	genetic disorder	Kallmann syndrome - heart disease
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2326	"" []	3186953	\N	\N	EFO	5	EFO	genetic disorder	Kallmann syndrome - heart disease
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:2326	"" []	3186954	\N	\N	EFO	5	EFO	reproductive system disease	Kallmann syndrome - heart disease
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2326	"" []	3186955	\N	\N	EFO	5	EFO	Genetic infertility	Kallmann syndrome - heart disease
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:2326	"" []	3186956	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Kallmann syndrome - heart disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2326	"" []	6149363	\N	\N	EFO	8	EFO	disease	Kallmann syndrome - heart disease
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2326	"" []	5412509	\N	\N	EFO	7	EFO	disease	Kallmann syndrome - heart disease
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2326	"" []	4394240	\N	\N	EFO	6	EFO	genetic disorder	Kallmann syndrome - heart disease
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2326	"" []	4394241	\N	\N	EFO	6	EFO	reproductive system disease	Kallmann syndrome - heart disease
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:2326	"" []	4394242	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Kallmann syndrome - heart disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2326	"" []	6409982	\N	\N	EFO	9	EFO	disposition	Kallmann syndrome - heart disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2326	"" []	5412510	\N	\N	EFO	7	EFO	genetic disorder	Kallmann syndrome - heart disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2326	"" []	5412511	\N	\N	EFO	7	EFO	endocrine system disease	Kallmann syndrome - heart disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2326	"" []	6807832	\N	\N	EFO	10	EFO	material property	Kallmann syndrome - heart disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2326	"" []	6149364	\N	\N	EFO	8	EFO	disease	Kallmann syndrome - heart disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2326	"" []	7048622	\N	\N	EFO	11	EFO	experimental factor	Kallmann syndrome - heart disease
Orphanet:2328	\N	\N	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	74851	\N	\N	EFO	0	EFO	Kapur-Toriello syndrome	Kapur-Toriello syndrome
Orphanet:102283	Orphanet:2328	\N	"" []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	217049	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Kapur-Toriello syndrome
Orphanet:139039	Orphanet:2328	\N	"" []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	217050	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Kapur-Toriello syndrome
Orphanet:183763	Orphanet:2328	\N	"" []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	217051	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Kapur-Toriello syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	571719	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Kapur-Toriello syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	571720	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Kapur-Toriello syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	571721	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Kapur-Toriello syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	1153997	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Kapur-Toriello syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	1153998	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Kapur-Toriello syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	1153999	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Kapur-Toriello syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	4394245	\N	\N	EFO	6	EFO	genetic disorder	Kapur-Toriello syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	2036596	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Kapur-Toriello syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	2036597	\N	\N	EFO	4	EFO	genetic disorder	Kapur-Toriello syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	5059787	\N	\N	EFO	7	EFO	disease	Kapur-Toriello syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	3186959	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Kapur-Toriello syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	5877038	\N	\N	EFO	8	EFO	disposition	Kapur-Toriello syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	6470261	\N	\N	EFO	9	EFO	material property	Kapur-Toriello syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2328	"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." []	6848432	\N	\N	EFO	10	EFO	experimental factor	Kapur-Toriello syndrome
Orphanet:2329	\N	\N	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	74852	\N	\N	EFO	0	EFO	Karsch-Neugebauer syndrome	Karsch-Neugebauer syndrome
Orphanet:404574	Orphanet:2329	\N	"" []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	217052	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Karsch-Neugebauer syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	571722	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Karsch-Neugebauer syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	571723	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Karsch-Neugebauer syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	1154000	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Karsch-Neugebauer syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	1154001	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Karsch-Neugebauer syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	2036598	\N	\N	EFO	4	EFO	Rare genetic bone disease	Karsch-Neugebauer syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	2036599	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Karsch-Neugebauer syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	2036600	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Karsch-Neugebauer syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	3186960	\N	\N	EFO	5	EFO	genetic disorder	Karsch-Neugebauer syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	3186961	\N	\N	EFO	5	EFO	bone disease	Karsch-Neugebauer syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	3186962	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Karsch-Neugebauer syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	4394248	\N	\N	EFO	6	EFO	genetic disorder	Karsch-Neugebauer syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	5182090	\N	\N	EFO	7	EFO	disease	Karsch-Neugebauer syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	4394247	\N	\N	EFO	6	EFO	skeletal system disease	Karsch-Neugebauer syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	5997464	\N	\N	EFO	8	EFO	disposition	Karsch-Neugebauer syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	5412515	\N	\N	EFO	7	EFO	disease	Karsch-Neugebauer syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	6550859	\N	\N	EFO	9	EFO	material property	Karsch-Neugebauer syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2329	"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." []	6889152	\N	\N	EFO	10	EFO	experimental factor	Karsch-Neugebauer syndrome
Orphanet:233	\N	\N	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	74853	\N	\N	EFO	0	EFO	Duane retraction syndrome	Duane retraction syndrome
Orphanet:98518	Orphanet:233	\N	"" []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	217053	\N	\N	EFO	1	EFO	Cranial nerve and nuclear aplasia	Duane retraction syndrome
Orphanet:98683	Orphanet:233	\N	"" []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	217054	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Duane retraction syndrome
Orphanet:269550	Orphanet:98518	\N	"" []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	571724	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Duane retraction syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	571725	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Duane retraction syndrome
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	1154002	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Duane retraction syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	1154003	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Duane retraction syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	2036601	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Duane retraction syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	2036602	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Duane retraction syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	2036603	\N	\N	EFO	4	EFO	Rare genetic eye disease	Duane retraction syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	3186964	\N	\N	EFO	5	EFO	genetic disorder	Duane retraction syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	3186965	\N	\N	EFO	5	EFO	genetic disorder	Duane retraction syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	3186966	\N	\N	EFO	5	EFO	genetic disorder	Duane retraction syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	3186967	\N	\N	EFO	5	EFO	eye disease	Duane retraction syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	4394249	\N	\N	EFO	6	EFO	disease	Duane retraction syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	4394250	\N	\N	EFO	6	EFO	disease	Duane retraction syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	5412516	\N	\N	EFO	7	EFO	disposition	Duane retraction syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	6149368	\N	\N	EFO	8	EFO	material property	Duane retraction syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:233	"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." []	6632601	\N	\N	EFO	9	EFO	experimental factor	Duane retraction syndrome
Orphanet:2332	\N	\N	"" []	Orphanet:2332	"" []	74854	\N	\N	EFO	0	EFO	KBG syndrome	KBG syndrome
Orphanet:102283	Orphanet:2332	\N	"" []	Orphanet:2332	"" []	217055	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	KBG syndrome
Orphanet:183580	Orphanet:2332	\N	"" []	Orphanet:2332	"" []	217056	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	KBG syndrome
Orphanet:183763	Orphanet:2332	\N	"" []	Orphanet:2332	"" []	217057	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	KBG syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2332	"" []	571726	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	KBG syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2332	"" []	571727	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	KBG syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2332	"" []	571728	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	KBG syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2332	"" []	1154004	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	KBG syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2332	"" []	2036604	\N	\N	EFO	4	EFO	genetic disorder	KBG syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2332	"" []	1154006	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	KBG syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2332	"" []	3000228	\N	\N	EFO	5	EFO	disease	KBG syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2332	"" []	2036606	\N	\N	EFO	4	EFO	genetic disorder	KBG syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2332	"" []	4133600	\N	\N	EFO	6	EFO	disposition	KBG syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2332	"" []	5182091	\N	\N	EFO	7	EFO	material property	KBG syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2332	"" []	5997465	\N	\N	EFO	8	EFO	experimental factor	KBG syndrome
Orphanet:2333	\N	\N	"" []	Orphanet:2333	"" []	74855	\N	\N	EFO	0	EFO	Kenny-Caffey syndrome	Kenny-Caffey syndrome
Orphanet:181402	Orphanet:2333	\N	"" []	Orphanet:2333	"" []	217058	\N	\N	EFO	1	EFO	Syndrome with hypoparathyroidism	Kenny-Caffey syndrome
Orphanet:183570	Orphanet:2333	\N	"" []	Orphanet:2333	"" []	217059	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Kenny-Caffey syndrome
Orphanet:93440	Orphanet:2333	\N	"" []	Orphanet:2333	"" []	217060	\N	\N	EFO	1	EFO	Slender bone dysplasia	Kenny-Caffey syndrome
Orphanet:208593	Orphanet:181402	\N	"" []	Orphanet:2333	"" []	571729	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Kenny-Caffey syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:2333	"" []	571730	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Kenny-Caffey syndrome
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:2333	"" []	571731	\N	\N	EFO	2	EFO	Primary bone dysplasia	Kenny-Caffey syndrome
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:2333	"" []	1154007	\N	\N	EFO	3	EFO	parathyroid disease	Kenny-Caffey syndrome
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:2333	"" []	1154008	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Kenny-Caffey syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2333	"" []	3186975	\N	\N	EFO	5	EFO	genetic disorder	Kenny-Caffey syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2333	"" []	1154010	\N	\N	EFO	3	EFO	Rare genetic bone disease	Kenny-Caffey syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2333	"" []	1154011	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Kenny-Caffey syndrome
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:2333	"" []	2036607	\N	\N	EFO	4	EFO	calcium metabolic disease	Kenny-Caffey syndrome
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:2333	"" []	2036608	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Kenny-Caffey syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2333	"" []	4066886	\N	\N	EFO	6	EFO	disease	Kenny-Caffey syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2333	"" []	2036610	\N	\N	EFO	4	EFO	genetic disorder	Kenny-Caffey syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2333	"" []	2036611	\N	\N	EFO	4	EFO	bone disease	Kenny-Caffey syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2333	"" []	2036612	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Kenny-Caffey syndrome
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2333	"" []	3186969	\N	\N	EFO	5	EFO	metabolic disease	Kenny-Caffey syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2333	"" []	3186970	\N	\N	EFO	5	EFO	genetic disorder	Kenny-Caffey syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2333	"" []	3186971	\N	\N	EFO	5	EFO	endocrine system disease	Kenny-Caffey syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2333	"" []	5059788	\N	\N	EFO	7	EFO	disposition	Kenny-Caffey syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2333	"" []	3186974	\N	\N	EFO	5	EFO	skeletal system disease	Kenny-Caffey syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2333	"" []	4394252	\N	\N	EFO	6	EFO	disease	Kenny-Caffey syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2333	"" []	4394253	\N	\N	EFO	6	EFO	disease	Kenny-Caffey syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2333	"" []	5877039	\N	\N	EFO	8	EFO	material property	Kenny-Caffey syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2333	"" []	4394255	\N	\N	EFO	6	EFO	disease	Kenny-Caffey syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2333	"" []	6470262	\N	\N	EFO	9	EFO	experimental factor	Kenny-Caffey syndrome
Orphanet:2334	\N	\N	"" []	Orphanet:2334	"" []	74856	\N	\N	EFO	0	EFO	Autosomal dominant keratitis	Autosomal dominant keratitis
Orphanet:34533	Orphanet:2334	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:2334	"" []	217061	\N	\N	EFO	1	EFO	Corneal dystrophy	Autosomal dominant keratitis
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:2334	"" []	571732	\N	\N	EFO	2	EFO	Rare genetic eye disease	Autosomal dominant keratitis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2334	"" []	1154012	\N	\N	EFO	3	EFO	genetic disorder	Autosomal dominant keratitis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2334	"" []	1154013	\N	\N	EFO	3	EFO	eye disease	Autosomal dominant keratitis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2334	"" []	2036613	\N	\N	EFO	4	EFO	disease	Autosomal dominant keratitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2334	"" []	2036614	\N	\N	EFO	4	EFO	disease	Autosomal dominant keratitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2334	"" []	3186976	\N	\N	EFO	5	EFO	disposition	Autosomal dominant keratitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2334	"" []	4394256	\N	\N	EFO	6	EFO	material property	Autosomal dominant keratitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2334	"" []	5412519	\N	\N	EFO	7	EFO	experimental factor	Autosomal dominant keratitis
Orphanet:233655	\N	\N	"" []	Orphanet:233655	"" []	74857	\N	\N	EFO	0	EFO	Rare genetic vascular disease	Rare genetic vascular disease
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:233655	"" []	217062	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic vascular disease
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:233655	"" []	217063	\N	\N	EFO	1	EFO	vascular disease	Rare genetic vascular disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:233655	"" []	571733	\N	\N	EFO	2	EFO	disease	Rare genetic vascular disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:233655	"" []	571734	\N	\N	EFO	2	EFO	cardiovascular disease	Rare genetic vascular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:233655	"" []	2036616	\N	\N	EFO	4	EFO	disposition	Rare genetic vascular disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:233655	"" []	1154015	\N	\N	EFO	3	EFO	disease	Rare genetic vascular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:233655	"" []	3000229	\N	\N	EFO	5	EFO	material property	Rare genetic vascular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:233655	"" []	4133602	\N	\N	EFO	6	EFO	experimental factor	Rare genetic vascular disease
Orphanet:2337	\N	\N	"" []	Orphanet:2337	"" []	74858	\N	\N	EFO	0	EFO	Non-epidermolytic palmoplantar keratoderma	Non-epidermolytic palmoplantar keratoderma
Orphanet:98349	Orphanet:2337	\N	"" []	Orphanet:2337	"" []	217064	\N	\N	EFO	1	EFO	Autosomal dominant isolated diffuse palmoplantar keratoderma	Non-epidermolytic palmoplantar keratoderma
Orphanet:307148	Orphanet:98349	\N	"" []	Orphanet:2337	"" []	571735	\N	\N	EFO	2	EFO	Isolated diffuse palmoplantar keratoderma	Non-epidermolytic palmoplantar keratoderma
Orphanet:307141	Orphanet:307148	\N	"" []	Orphanet:2337	"" []	1154016	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Non-epidermolytic palmoplantar keratoderma
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:2337	"" []	2036617	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Non-epidermolytic palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:2337	"" []	3186978	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Non-epidermolytic palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2337	"" []	4394257	\N	\N	EFO	6	EFO	Rare genetic skin disease	Non-epidermolytic palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2337	"" []	5412520	\N	\N	EFO	7	EFO	genetic disorder	Non-epidermolytic palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2337	"" []	5412521	\N	\N	EFO	7	EFO	skin disease	Non-epidermolytic palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2337	"" []	6149369	\N	\N	EFO	8	EFO	disease	Non-epidermolytic palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2337	"" []	6149370	\N	\N	EFO	8	EFO	disease	Non-epidermolytic palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2337	"" []	6632602	\N	\N	EFO	9	EFO	disposition	Non-epidermolytic palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2337	"" []	6925580	\N	\N	EFO	10	EFO	material property	Non-epidermolytic palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2337	"" []	7099060	\N	\N	EFO	11	EFO	experimental factor	Non-epidermolytic palmoplantar keratoderma
Orphanet:2338	\N	\N	"" []	Orphanet:2338	"" []	74859	\N	\N	EFO	0	EFO	Isolated punctate palmoplantar keratoderma	Isolated punctate palmoplantar keratoderma
Orphanet:307967	Orphanet:2338	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:2338	"" []	217065	\N	\N	EFO	1	EFO	Punctate palmoplantar keratoderma	Isolated punctate palmoplantar keratoderma
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:2338	"" []	571736	\N	\N	EFO	2	EFO	palmoplantar keratosis	Isolated punctate palmoplantar keratoderma
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:2338	"" []	571737	\N	\N	EFO	2	EFO	Hereditary palmoplantar keratoderma	Isolated punctate palmoplantar keratoderma
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:2338	"" []	1154017	\N	\N	EFO	3	EFO	keratosis	Isolated punctate palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:2338	"" []	1154018	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Isolated punctate palmoplantar keratoderma
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2338	"" []	2036618	\N	\N	EFO	4	EFO	skin disease	Isolated punctate palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2338	"" []	2036619	\N	\N	EFO	4	EFO	Rare genetic skin disease	Isolated punctate palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2338	"" []	4394260	\N	\N	EFO	6	EFO	disease	Isolated punctate palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2338	"" []	3186980	\N	\N	EFO	5	EFO	genetic disorder	Isolated punctate palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2338	"" []	3186981	\N	\N	EFO	5	EFO	skin disease	Isolated punctate palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2338	"" []	5182093	\N	\N	EFO	7	EFO	disposition	Isolated punctate palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2338	"" []	4394259	\N	\N	EFO	6	EFO	disease	Isolated punctate palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2338	"" []	5997467	\N	\N	EFO	8	EFO	material property	Isolated punctate palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2338	"" []	6550860	\N	\N	EFO	9	EFO	experimental factor	Isolated punctate palmoplantar keratoderma
Orphanet:2339	\N	\N	"" []	Orphanet:2339	"" []	74860	\N	\N	EFO	0	EFO	Keratosis follicularis - dwarfism - cerebral atrophy	Keratosis follicularis - dwarfism - cerebral atrophy
Orphanet:79360	Orphanet:2339	\N	"" []	Orphanet:2339	"" []	217066	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Keratosis follicularis - dwarfism - cerebral atrophy
Orphanet:98464	Orphanet:2339	\N	"" []	Orphanet:2339	"" []	217067	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Keratosis follicularis - dwarfism - cerebral atrophy
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:2339	"" []	571738	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Keratosis follicularis - dwarfism - cerebral atrophy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2339	"" []	571739	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Keratosis follicularis - dwarfism - cerebral atrophy
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2339	"" []	1154019	\N	\N	EFO	3	EFO	Rare genetic skin disease	Keratosis follicularis - dwarfism - cerebral atrophy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2339	"" []	1154020	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Keratosis follicularis - dwarfism - cerebral atrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2339	"" []	2036620	\N	\N	EFO	4	EFO	genetic disorder	Keratosis follicularis - dwarfism - cerebral atrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2339	"" []	2036621	\N	\N	EFO	4	EFO	skin disease	Keratosis follicularis - dwarfism - cerebral atrophy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2339	"" []	2036622	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Keratosis follicularis - dwarfism - cerebral atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2339	"" []	4394262	\N	\N	EFO	6	EFO	disease	Keratosis follicularis - dwarfism - cerebral atrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2339	"" []	3186983	\N	\N	EFO	5	EFO	disease	Keratosis follicularis - dwarfism - cerebral atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2339	"" []	3186984	\N	\N	EFO	5	EFO	genetic disorder	Keratosis follicularis - dwarfism - cerebral atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2339	"" []	5182094	\N	\N	EFO	7	EFO	disposition	Keratosis follicularis - dwarfism - cerebral atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2339	"" []	5997468	\N	\N	EFO	8	EFO	material property	Keratosis follicularis - dwarfism - cerebral atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2339	"" []	6550861	\N	\N	EFO	9	EFO	experimental factor	Keratosis follicularis - dwarfism - cerebral atrophy
Orphanet:234	\N	\N	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	74861	\N	\N	EFO	0	EFO	Dubin-Johnson syndrome	Dubin-Johnson syndrome
Orphanet:101940	Orphanet:234	\N	"" []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	217068	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Dubin-Johnson syndrome
Orphanet:309816	Orphanet:234	\N	"" []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	217069	\N	\N	EFO	1	EFO	Disorder of bilirubin metabolism and excretion	Dubin-Johnson syndrome
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	571740	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Dubin-Johnson syndrome
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	571741	\N	\N	EFO	2	EFO	Disorder of porphyrin and haem metabolism	Dubin-Johnson syndrome
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	1154021	\N	\N	EFO	3	EFO	digestive system disease	Dubin-Johnson syndrome
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	1154022	\N	\N	EFO	3	EFO	genetic disorder	Dubin-Johnson syndrome
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	1154023	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Dubin-Johnson syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	2036623	\N	\N	EFO	4	EFO	disease	Dubin-Johnson syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	3186986	\N	\N	EFO	5	EFO	disease	Dubin-Johnson syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	2036625	\N	\N	EFO	4	EFO	genetic disorder	Dubin-Johnson syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	2036626	\N	\N	EFO	4	EFO	metabolic disease	Dubin-Johnson syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	4133603	\N	\N	EFO	6	EFO	disposition	Dubin-Johnson syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	3186987	\N	\N	EFO	5	EFO	disease	Dubin-Johnson syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	5182095	\N	\N	EFO	7	EFO	material property	Dubin-Johnson syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:234	"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." []	5997469	\N	\N	EFO	8	EFO	experimental factor	Dubin-Johnson syndrome
Orphanet:2340	\N	\N	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	74862	\N	\N	EFO	0	EFO	Keratosis follicularis spinulosa decalvans	Keratosis follicularis spinulosa decalvans
Orphanet:498	Orphanet:2340	\N	"" []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	217070	\N	\N	EFO	1	EFO	Keratosis pilaris atrophicans	Keratosis follicularis spinulosa decalvans
Orphanet:98571	Orphanet:2340	\N	"" []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	217071	\N	\N	EFO	1	EFO	Secondary ectropion	Keratosis follicularis spinulosa decalvans
Orphanet:79360	Orphanet:498	\N	"" []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	571742	\N	\N	EFO	2	EFO	Other genetic epidermal disease	Keratosis follicularis spinulosa decalvans
Orphanet:98567	Orphanet:98571	\N	"" []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	571743	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Keratosis follicularis spinulosa decalvans
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	1154024	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Keratosis follicularis spinulosa decalvans
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	1154025	\N	\N	EFO	3	EFO	Rare palpebral disease	Keratosis follicularis spinulosa decalvans
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	2036627	\N	\N	EFO	4	EFO	Rare genetic skin disease	Keratosis follicularis spinulosa decalvans
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	2036628	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Keratosis follicularis spinulosa decalvans
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	3186988	\N	\N	EFO	5	EFO	genetic disorder	Keratosis follicularis spinulosa decalvans
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	3186989	\N	\N	EFO	5	EFO	skin disease	Keratosis follicularis spinulosa decalvans
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	3186990	\N	\N	EFO	5	EFO	Rare genetic eye disease	Keratosis follicularis spinulosa decalvans
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	5412526	\N	\N	EFO	7	EFO	disease	Keratosis follicularis spinulosa decalvans
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	4394265	\N	\N	EFO	6	EFO	disease	Keratosis follicularis spinulosa decalvans
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	4394266	\N	\N	EFO	6	EFO	genetic disorder	Keratosis follicularis spinulosa decalvans
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	4394267	\N	\N	EFO	6	EFO	eye disease	Keratosis follicularis spinulosa decalvans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	5997470	\N	\N	EFO	8	EFO	disposition	Keratosis follicularis spinulosa decalvans
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	5412527	\N	\N	EFO	7	EFO	disease	Keratosis follicularis spinulosa decalvans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	6550862	\N	\N	EFO	9	EFO	material property	Keratosis follicularis spinulosa decalvans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2340	"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." []	6889153	\N	\N	EFO	10	EFO	experimental factor	Keratosis follicularis spinulosa decalvans
Orphanet:2342	\N	\N	"" []	Orphanet:2342	"" []	74863	\N	\N	EFO	0	EFO	Haim-Munk syndrome	Haim-Munk syndrome
Orphanet:183580	Orphanet:2342	\N	"" []	Orphanet:2342	"" []	217072	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Haim-Munk syndrome
Orphanet:307804	Orphanet:2342	\N	"" []	Orphanet:2342	"" []	217073	\N	\N	EFO	1	EFO	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Haim-Munk syndrome
Orphanet:309340	Orphanet:2342	\N	"" []	Orphanet:2342	"" []	217074	\N	\N	EFO	1	EFO	Disorder of lysosomal-related organelles	Haim-Munk syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2342	"" []	571744	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Haim-Munk syndrome
Orphanet:307711	Orphanet:307804	\N	"" []	Orphanet:2342	"" []	571745	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Haim-Munk syndrome
Orphanet:68367	Orphanet:309340	\N	"" []	Orphanet:2342	"" []	571746	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Haim-Munk syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2342	"" []	1154026	\N	\N	EFO	3	EFO	genetic disorder	Haim-Munk syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:2342	"" []	1154027	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Haim-Munk syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2342	"" []	1154028	\N	\N	EFO	3	EFO	genetic disorder	Haim-Munk syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2342	"" []	1154029	\N	\N	EFO	3	EFO	metabolic disease	Haim-Munk syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2342	"" []	6149374	\N	\N	EFO	8	EFO	disease	Haim-Munk syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:2342	"" []	2036630	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Haim-Munk syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2342	"" []	2036631	\N	\N	EFO	4	EFO	disease	Haim-Munk syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2342	"" []	6378869	\N	\N	EFO	9	EFO	disposition	Haim-Munk syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:2342	"" []	3186992	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Haim-Munk syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2342	"" []	6778666	\N	\N	EFO	10	EFO	material property	Haim-Munk syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2342	"" []	4394269	\N	\N	EFO	6	EFO	Rare genetic skin disease	Haim-Munk syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2342	"" []	7029873	\N	\N	EFO	11	EFO	experimental factor	Haim-Munk syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2342	"" []	5412529	\N	\N	EFO	7	EFO	genetic disorder	Haim-Munk syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2342	"" []	5412530	\N	\N	EFO	7	EFO	skin disease	Haim-Munk syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2342	"" []	6149375	\N	\N	EFO	8	EFO	disease	Haim-Munk syndrome
Orphanet:2343	\N	\N	"" []	Orphanet:2343	"" []	74864	\N	\N	EFO	0	EFO	Isolated cloverleaf skull syndrome	Isolated cloverleaf skull syndrome
Orphanet:139390	Orphanet:2343	\N	"" []	Orphanet:2343	"" []	217075	\N	\N	EFO	1	EFO	Isolated craniosynostosis	Isolated cloverleaf skull syndrome
Orphanet:1531	Orphanet:139390	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:2343	"" []	571747	\N	\N	EFO	2	EFO	Craniosynostosis	Isolated cloverleaf skull syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:2343	"" []	1154030	\N	\N	EFO	3	EFO	Genetic cranial malformation	Isolated cloverleaf skull syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:2343	"" []	1154031	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Isolated cloverleaf skull syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:2343	"" []	2036632	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated cloverleaf skull syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2343	"" []	2036633	\N	\N	EFO	4	EFO	Rare genetic bone disease	Isolated cloverleaf skull syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2343	"" []	2036634	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Isolated cloverleaf skull syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2343	"" []	4394272	\N	\N	EFO	6	EFO	genetic disorder	Isolated cloverleaf skull syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2343	"" []	3186994	\N	\N	EFO	5	EFO	genetic disorder	Isolated cloverleaf skull syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2343	"" []	3186995	\N	\N	EFO	5	EFO	bone disease	Isolated cloverleaf skull syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2343	"" []	3186996	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated cloverleaf skull syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2343	"" []	5182096	\N	\N	EFO	7	EFO	disease	Isolated cloverleaf skull syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2343	"" []	4394271	\N	\N	EFO	6	EFO	skeletal system disease	Isolated cloverleaf skull syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2343	"" []	5997471	\N	\N	EFO	8	EFO	disposition	Isolated cloverleaf skull syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2343	"" []	5412532	\N	\N	EFO	7	EFO	disease	Isolated cloverleaf skull syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2343	"" []	6550863	\N	\N	EFO	9	EFO	material property	Isolated cloverleaf skull syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2343	"" []	6889154	\N	\N	EFO	10	EFO	experimental factor	Isolated cloverleaf skull syndrome
Orphanet:2345	\N	\N	"" []	Orphanet:2345	"" []	74865	\N	\N	EFO	0	EFO	Isolated Klippel-Feil syndrome	Isolated Klippel-Feil syndrome
Orphanet:93454	Orphanet:2345	\N	"" []	Orphanet:2345	"" []	217076	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Isolated Klippel-Feil syndrome
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:2345	"" []	571748	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Isolated Klippel-Feil syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2345	"" []	1154032	\N	\N	EFO	3	EFO	Rare genetic bone disease	Isolated Klippel-Feil syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2345	"" []	1154033	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Isolated Klippel-Feil syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2345	"" []	2036635	\N	\N	EFO	4	EFO	genetic disorder	Isolated Klippel-Feil syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2345	"" []	2036636	\N	\N	EFO	4	EFO	bone disease	Isolated Klippel-Feil syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2345	"" []	2036637	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated Klippel-Feil syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2345	"" []	4394275	\N	\N	EFO	6	EFO	disease	Isolated Klippel-Feil syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2345	"" []	3186998	\N	\N	EFO	5	EFO	skeletal system disease	Isolated Klippel-Feil syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2345	"" []	3186999	\N	\N	EFO	5	EFO	genetic disorder	Isolated Klippel-Feil syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2345	"" []	5182097	\N	\N	EFO	7	EFO	disposition	Isolated Klippel-Feil syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2345	"" []	4394274	\N	\N	EFO	6	EFO	disease	Isolated Klippel-Feil syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2345	"" []	5997472	\N	\N	EFO	8	EFO	material property	Isolated Klippel-Feil syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2345	"" []	6550864	\N	\N	EFO	9	EFO	experimental factor	Isolated Klippel-Feil syndrome
Orphanet:2346	\N	\N	"" []	Orphanet:2346	"" []	74866	\N	\N	EFO	0	EFO	Angioosteohypertrophic syndrome	Angioosteohypertrophic syndrome
Orphanet:183478	Orphanet:2346	\N	"" []	Orphanet:2346	"" []	217077	\N	\N	EFO	1	EFO	Genetic skin vascular disorder	Angioosteohypertrophic syndrome
Orphanet:211240	Orphanet:2346	\N	"" []	Orphanet:2346	"" []	217078	\N	\N	EFO	1	EFO	Genetic vascular anomaly	Angioosteohypertrophic syndrome
Orphanet:235832	Orphanet:2346	\N	"" []	Orphanet:2346	"" []	217079	\N	\N	EFO	1	EFO	Congenital vascular bone syndrome	Angioosteohypertrophic syndrome
Orphanet:93460	Orphanet:2346	\N	"" []	Orphanet:2346	"" []	217080	\N	\N	EFO	1	EFO	Overgrowth syndrome	Angioosteohypertrophic syndrome
Orphanet:98196	Orphanet:2346	\N	"" []	Orphanet:2346	"" []	217081	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Angioosteohypertrophic syndrome
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:2346	"" []	571749	\N	\N	EFO	2	EFO	Genetic dermis disorder	Angioosteohypertrophic syndrome
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:2346	"" []	571750	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Angioosteohypertrophic syndrome
Orphanet:183524	Orphanet:235832	\N	"" []	Orphanet:2346	"" []	571751	\N	\N	EFO	2	EFO	Rare genetic bone disease	Angioosteohypertrophic syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:2346	"" []	571752	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Angioosteohypertrophic syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:2346	"" []	571753	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Angioosteohypertrophic syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2346	"" []	1154034	\N	\N	EFO	3	EFO	Rare genetic skin disease	Angioosteohypertrophic syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2346	"" []	2036642	\N	\N	EFO	4	EFO	genetic disorder	Angioosteohypertrophic syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2346	"" []	1154036	\N	\N	EFO	3	EFO	genetic disorder	Angioosteohypertrophic syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2346	"" []	1154037	\N	\N	EFO	3	EFO	bone disease	Angioosteohypertrophic syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:2346	"" []	1154038	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Angioosteohypertrophic syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2346	"" []	2036638	\N	\N	EFO	4	EFO	genetic disorder	Angioosteohypertrophic syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2346	"" []	2036639	\N	\N	EFO	4	EFO	skin disease	Angioosteohypertrophic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2346	"" []	3000230	\N	\N	EFO	5	EFO	disease	Angioosteohypertrophic syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2346	"" []	2036641	\N	\N	EFO	4	EFO	skeletal system disease	Angioosteohypertrophic syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2346	"" []	3187000	\N	\N	EFO	5	EFO	disease	Angioosteohypertrophic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2346	"" []	4133604	\N	\N	EFO	6	EFO	disposition	Angioosteohypertrophic syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2346	"" []	3187002	\N	\N	EFO	5	EFO	disease	Angioosteohypertrophic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2346	"" []	5182098	\N	\N	EFO	7	EFO	material property	Angioosteohypertrophic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2346	"" []	5997473	\N	\N	EFO	8	EFO	experimental factor	Angioosteohypertrophic syndrome
Orphanet:2347	\N	\N	"" []	Orphanet:2347	"" []	74867	\N	\N	EFO	0	EFO	Lethal Kniest-like dysplasia	Lethal Kniest-like dysplasia
Orphanet:93465	Orphanet:2347	\N	"" []	Orphanet:2347	"" []	217082	\N	\N	EFO	1	EFO	Lethal chondrodysplasia	Lethal Kniest-like dysplasia
Orphanet:364526	Orphanet:93465	\N	"" []	Orphanet:2347	"" []	571754	\N	\N	EFO	2	EFO	Primary bone dysplasia	Lethal Kniest-like dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2347	"" []	1154039	\N	\N	EFO	3	EFO	Rare genetic bone disease	Lethal Kniest-like dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2347	"" []	1154040	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Lethal Kniest-like dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2347	"" []	2036643	\N	\N	EFO	4	EFO	genetic disorder	Lethal Kniest-like dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2347	"" []	2036644	\N	\N	EFO	4	EFO	bone disease	Lethal Kniest-like dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2347	"" []	2036645	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lethal Kniest-like dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2347	"" []	4394279	\N	\N	EFO	6	EFO	disease	Lethal Kniest-like dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2347	"" []	3187004	\N	\N	EFO	5	EFO	skeletal system disease	Lethal Kniest-like dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2347	"" []	3187005	\N	\N	EFO	5	EFO	genetic disorder	Lethal Kniest-like dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2347	"" []	5182099	\N	\N	EFO	7	EFO	disposition	Lethal Kniest-like dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2347	"" []	4394278	\N	\N	EFO	6	EFO	disease	Lethal Kniest-like dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2347	"" []	5997474	\N	\N	EFO	8	EFO	material property	Lethal Kniest-like dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2347	"" []	6550865	\N	\N	EFO	9	EFO	experimental factor	Lethal Kniest-like dysplasia
Orphanet:2348	\N	\N	"" []	Orphanet:2348	"" []	74868	\N	\N	EFO	0	EFO	Familial partial lipodystrophy, Dunnigan type	Familial partial lipodystrophy, Dunnigan type
Orphanet:363245	Orphanet:2348	\N	"" []	Orphanet:2348	"" []	217083	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Familial partial lipodystrophy, Dunnigan type
Orphanet:98306	Orphanet:2348	\N	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	Orphanet:2348	"" []	217084	\N	\N	EFO	1	EFO	Familial partial lipodystrophy	Familial partial lipodystrophy, Dunnigan type
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:2348	"" []	571755	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Familial partial lipodystrophy, Dunnigan type
EFO:1000727	Orphanet:98306	\N	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	Orphanet:2348	"" []	571756	\N	\N	EFO	2	EFO	lipodystrophy	Familial partial lipodystrophy, Dunnigan type
Orphanet:98305	Orphanet:98306	\N	"" []	Orphanet:2348	"" []	571757	\N	\N	EFO	2	EFO	Genetic lipodystrophy	Familial partial lipodystrophy, Dunnigan type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2348	"" []	1154041	\N	\N	EFO	3	EFO	genetic disorder	Familial partial lipodystrophy, Dunnigan type
EFO:0000701	EFO:1000727	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2348	"" []	1154042	\N	\N	EFO	3	EFO	skin disease	Familial partial lipodystrophy, Dunnigan type
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:2348	"" []	1154043	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial partial lipodystrophy, Dunnigan type
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:2348	"" []	1154044	\N	\N	EFO	3	EFO	Primary lipodystrophy	Familial partial lipodystrophy, Dunnigan type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2348	"" []	5412537	\N	\N	EFO	7	EFO	disease	Familial partial lipodystrophy, Dunnigan type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2348	"" []	5412538	\N	\N	EFO	7	EFO	disease	Familial partial lipodystrophy, Dunnigan type
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2348	"" []	2036648	\N	\N	EFO	4	EFO	genetic disorder	Familial partial lipodystrophy, Dunnigan type
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2348	"" []	2036649	\N	\N	EFO	4	EFO	endocrine system disease	Familial partial lipodystrophy, Dunnigan type
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:2348	"" []	2036650	\N	\N	EFO	4	EFO	Genetic subcutaneous tissue disorder	Familial partial lipodystrophy, Dunnigan type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2348	"" []	5817587	\N	\N	EFO	8	EFO	disposition	Familial partial lipodystrophy, Dunnigan type
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2348	"" []	3187008	\N	\N	EFO	5	EFO	disease	Familial partial lipodystrophy, Dunnigan type
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:2348	"" []	3187009	\N	\N	EFO	5	EFO	Rare genetic skin disease	Familial partial lipodystrophy, Dunnigan type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2348	"" []	6409983	\N	\N	EFO	9	EFO	material property	Familial partial lipodystrophy, Dunnigan type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2348	"" []	4394281	\N	\N	EFO	6	EFO	genetic disorder	Familial partial lipodystrophy, Dunnigan type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2348	"" []	4394282	\N	\N	EFO	6	EFO	skin disease	Familial partial lipodystrophy, Dunnigan type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2348	"" []	6807833	\N	\N	EFO	10	EFO	experimental factor	Familial partial lipodystrophy, Dunnigan type
Orphanet:2349	\N	\N	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	74869	\N	\N	EFO	0	EFO	Muscular pseudohypertrophy - hypothyroidism	Muscular pseudohypertrophy - hypothyroidism
Orphanet:177107	Orphanet:2349	\N	"" []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	217085	\N	\N	EFO	1	EFO	Syndromic hypothyroidism	Muscular pseudohypertrophy - hypothyroidism
Orphanet:226292	Orphanet:177107	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	571758	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Muscular pseudohypertrophy - hypothyroidism
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	1154045	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Muscular pseudohypertrophy - hypothyroidism
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	2036651	\N	\N	EFO	4	EFO	Rare hypothyroidism	Muscular pseudohypertrophy - hypothyroidism
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	3187010	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Muscular pseudohypertrophy - hypothyroidism
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	4394283	\N	\N	EFO	6	EFO	thyroid disease	Muscular pseudohypertrophy - hypothyroidism
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	4394284	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Muscular pseudohypertrophy - hypothyroidism
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	5412539	\N	\N	EFO	7	EFO	endocrine system disease	Muscular pseudohypertrophy - hypothyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	5412540	\N	\N	EFO	7	EFO	genetic disorder	Muscular pseudohypertrophy - hypothyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	5412541	\N	\N	EFO	7	EFO	endocrine system disease	Muscular pseudohypertrophy - hypothyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	6149379	\N	\N	EFO	8	EFO	disease	Muscular pseudohypertrophy - hypothyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	6149380	\N	\N	EFO	8	EFO	disease	Muscular pseudohypertrophy - hypothyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	6632605	\N	\N	EFO	9	EFO	disposition	Muscular pseudohypertrophy - hypothyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	6925581	\N	\N	EFO	10	EFO	material property	Muscular pseudohypertrophy - hypothyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2349	"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." []	7099061	\N	\N	EFO	11	EFO	experimental factor	Muscular pseudohypertrophy - hypothyroidism
Orphanet:235	\N	\N	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	74870	\N	\N	EFO	0	EFO	Dubowitz syndrome	Dubowitz syndrome
Orphanet:102283	Orphanet:235	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	217086	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Dubowitz syndrome
Orphanet:183570	Orphanet:235	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	217087	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Dubowitz syndrome
Orphanet:183763	Orphanet:235	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	217088	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Dubowitz syndrome
Orphanet:79373	Orphanet:235	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	217089	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Dubowitz syndrome
Orphanet:98578	Orphanet:235	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	217090	\N	\N	EFO	1	EFO	Ptosis	Dubowitz syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	571759	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Dubowitz syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	571760	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Dubowitz syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	571761	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Dubowitz syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	571762	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Dubowitz syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	571763	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Dubowitz syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	571764	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Dubowitz syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	1154046	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dubowitz syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	2036652	\N	\N	EFO	4	EFO	genetic disorder	Dubowitz syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	1154048	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Dubowitz syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	1154049	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dubowitz syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	1154050	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dubowitz syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	1154051	\N	\N	EFO	3	EFO	Rare palpebral disease	Dubowitz syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	5412543	\N	\N	EFO	7	EFO	disease	Dubowitz syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	2036654	\N	\N	EFO	4	EFO	genetic disorder	Dubowitz syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	2036655	\N	\N	EFO	4	EFO	genetic disorder	Dubowitz syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	2036656	\N	\N	EFO	4	EFO	skin disease	Dubowitz syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	2036657	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Dubowitz syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	5817588	\N	\N	EFO	8	EFO	disposition	Dubowitz syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	3187012	\N	\N	EFO	5	EFO	disease	Dubowitz syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	3187013	\N	\N	EFO	5	EFO	Rare genetic eye disease	Dubowitz syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	6409984	\N	\N	EFO	9	EFO	material property	Dubowitz syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	4394286	\N	\N	EFO	6	EFO	genetic disorder	Dubowitz syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	4394287	\N	\N	EFO	6	EFO	eye disease	Dubowitz syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	6807834	\N	\N	EFO	10	EFO	experimental factor	Dubowitz syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:235	"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." []	5412544	\N	\N	EFO	7	EFO	disease	Dubowitz syndrome
Orphanet:2353	\N	\N	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	74871	\N	\N	EFO	0	EFO	Schilbach-Rott syndrome	Schilbach-Rott syndrome
Orphanet:165707	Orphanet:2353	\N	"" []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	217091	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Schilbach-Rott syndrome
Orphanet:330206	Orphanet:2353	\N	"" []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	217092	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Schilbach-Rott syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	571765	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Schilbach-Rott syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	571766	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Schilbach-Rott syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	1154052	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Schilbach-Rott syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	1154053	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Schilbach-Rott syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	2036658	\N	\N	EFO	4	EFO	genetic disorder	Schilbach-Rott syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	2036659	\N	\N	EFO	4	EFO	genetic disorder	Schilbach-Rott syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	3187014	\N	\N	EFO	5	EFO	disease	Schilbach-Rott syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	4394288	\N	\N	EFO	6	EFO	disposition	Schilbach-Rott syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	5412545	\N	\N	EFO	7	EFO	material property	Schilbach-Rott syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2353	"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." []	6149381	\N	\N	EFO	8	EFO	experimental factor	Schilbach-Rott syndrome
Orphanet:2356	\N	\N	"" []	Orphanet:2356	"" []	74872	\N	\N	EFO	0	EFO	Arachnoid cyst	Arachnoid cyst
Orphanet:269550	Orphanet:2356	\N	"" []	Orphanet:2356	"" []	217093	\N	\N	EFO	1	EFO	Genetic non-syndromic central nervous system malformation	Arachnoid cyst
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2356	"" []	571767	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Arachnoid cyst
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2356	"" []	1154054	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Arachnoid cyst
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2356	"" []	1154055	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Arachnoid cyst
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2356	"" []	2036660	\N	\N	EFO	4	EFO	genetic disorder	Arachnoid cyst
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2356	"" []	2036661	\N	\N	EFO	4	EFO	genetic disorder	Arachnoid cyst
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2356	"" []	3187015	\N	\N	EFO	5	EFO	disease	Arachnoid cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2356	"" []	4394289	\N	\N	EFO	6	EFO	disposition	Arachnoid cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2356	"" []	5412546	\N	\N	EFO	7	EFO	material property	Arachnoid cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2356	"" []	6149382	\N	\N	EFO	8	EFO	experimental factor	Arachnoid cyst
Orphanet:235832	\N	\N	"" []	Orphanet:235832	"" []	74873	\N	\N	EFO	0	EFO	Congenital vascular bone syndrome	Congenital vascular bone syndrome
Orphanet:183524	Orphanet:235832	\N	"" []	Orphanet:235832	"" []	217094	\N	\N	EFO	1	EFO	Rare genetic bone disease	Congenital vascular bone syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:235832	"" []	571768	\N	\N	EFO	2	EFO	genetic disorder	Congenital vascular bone syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:235832	"" []	571769	\N	\N	EFO	2	EFO	bone disease	Congenital vascular bone syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:235832	"" []	1154056	\N	\N	EFO	3	EFO	disease	Congenital vascular bone syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:235832	"" []	1154057	\N	\N	EFO	3	EFO	skeletal system disease	Congenital vascular bone syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:235832	"" []	3187017	\N	\N	EFO	5	EFO	disposition	Congenital vascular bone syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:235832	"" []	2036663	\N	\N	EFO	4	EFO	disease	Congenital vascular bone syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:235832	"" []	4133607	\N	\N	EFO	6	EFO	material property	Congenital vascular bone syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:235832	"" []	5182102	\N	\N	EFO	7	EFO	experimental factor	Congenital vascular bone syndrome
Orphanet:235936	\N	\N	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	Orphanet:235936	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	74874	\N	\N	EFO	0	EFO	Familial hyperaldosteronism	Familial hyperaldosteronism
Orphanet:371861	Orphanet:235936	\N	"" []	Orphanet:235936	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	217095	\N	\N	EFO	1	EFO	Genetic hyperaldosteronism	Familial hyperaldosteronism
Orphanet:183637	Orphanet:371861	\N	"" []	Orphanet:235936	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	571770	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Familial hyperaldosteronism
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:235936	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	1154058	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial hyperaldosteronism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:235936	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	2036664	\N	\N	EFO	4	EFO	genetic disorder	Familial hyperaldosteronism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:235936	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	2036665	\N	\N	EFO	4	EFO	endocrine system disease	Familial hyperaldosteronism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:235936	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	3187018	\N	\N	EFO	5	EFO	disease	Familial hyperaldosteronism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:235936	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	3187019	\N	\N	EFO	5	EFO	disease	Familial hyperaldosteronism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:235936	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	4394291	\N	\N	EFO	6	EFO	disposition	Familial hyperaldosteronism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:235936	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	5412547	\N	\N	EFO	7	EFO	material property	Familial hyperaldosteronism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:235936	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	6149383	\N	\N	EFO	8	EFO	experimental factor	Familial hyperaldosteronism
Orphanet:236	\N	\N	"" []	Orphanet:236	"" []	74875	\N	\N	EFO	0	EFO	Trisomy 9p	Trisomy 9p
Orphanet:262767	Orphanet:236	\N	"" []	Orphanet:236	"" []	217096	\N	\N	EFO	1	EFO	Partial trisomy of the short arm of chromosome 9	Trisomy 9p
Orphanet:262643	Orphanet:262767	\N	"" []	Orphanet:236	"" []	571771	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of chromosome 9	Trisomy 9p
Orphanet:98132	Orphanet:262643	\N	"" []	Orphanet:236	"" []	1154059	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Trisomy 9p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:236	"" []	2036666	\N	\N	EFO	4	EFO	Autosomal trisomy	Trisomy 9p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:236	"" []	3187020	\N	\N	EFO	5	EFO	Autosomal anomaly	Trisomy 9p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:236	"" []	4394292	\N	\N	EFO	6	EFO	Chromosomal anomaly	Trisomy 9p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:236	"" []	5412548	\N	\N	EFO	7	EFO	genetic disorder	Trisomy 9p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:236	"" []	6149384	\N	\N	EFO	8	EFO	disease	Trisomy 9p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:236	"" []	6632606	\N	\N	EFO	9	EFO	disposition	Trisomy 9p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:236	"" []	6925582	\N	\N	EFO	10	EFO	material property	Trisomy 9p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:236	"" []	7099062	\N	\N	EFO	11	EFO	experimental factor	Trisomy 9p
Orphanet:2363	\N	\N	"" []	Orphanet:2363	"" []	74876	\N	\N	EFO	0	EFO	Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital syndrome
Orphanet:183580	Orphanet:2363	\N	"" []	Orphanet:2363	"" []	217097	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Lacrimoauriculodentodigital syndrome
Orphanet:294959	Orphanet:2363	\N	"" []	Orphanet:2363	"" []	217098	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Lacrimoauriculodentodigital syndrome
Orphanet:330206	Orphanet:2363	\N	"" []	Orphanet:2363	"" []	217099	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Lacrimoauriculodentodigital syndrome
Orphanet:98609	Orphanet:2363	\N	"" []	Orphanet:2363	"" []	217100	\N	\N	EFO	1	EFO	EEC syndrome and related syndrome	Lacrimoauriculodentodigital syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2363	"" []	571772	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Lacrimoauriculodentodigital syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2363	"" []	571773	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Lacrimoauriculodentodigital syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2363	"" []	571774	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Lacrimoauriculodentodigital syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2363	"" []	571775	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lacrimoauriculodentodigital syndrome
Orphanet:79373	Orphanet:98609	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2363	"" []	571776	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Lacrimoauriculodentodigital syndrome
Orphanet:98608	Orphanet:98609	\N	"" []	Orphanet:2363	"" []	571777	\N	\N	EFO	2	EFO	Anomaly of the secretory and excretory apparatus of the lacrimal system	Lacrimoauriculodentodigital syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2363	"" []	4394295	\N	\N	EFO	6	EFO	genetic disorder	Lacrimoauriculodentodigital syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2363	"" []	1154061	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Lacrimoauriculodentodigital syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2363	"" []	1154062	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Lacrimoauriculodentodigital syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2363	"" []	1154063	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lacrimoauriculodentodigital syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2363	"" []	1154064	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Lacrimoauriculodentodigital syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2363	"" []	1154065	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Lacrimoauriculodentodigital syndrome
Orphanet:98602	Orphanet:98608	\N	"" []	Orphanet:2363	"" []	1154066	\N	\N	EFO	3	EFO	Rare lacrimal system disease	Lacrimoauriculodentodigital syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2363	"" []	5028418	\N	\N	EFO	7	EFO	disease	Lacrimoauriculodentodigital syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2363	"" []	2036668	\N	\N	EFO	4	EFO	Rare genetic bone disease	Lacrimoauriculodentodigital syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2363	"" []	2036669	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Lacrimoauriculodentodigital syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2363	"" []	2036670	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lacrimoauriculodentodigital syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2363	"" []	2036672	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lacrimoauriculodentodigital syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2363	"" []	2036673	\N	\N	EFO	4	EFO	Rare genetic skin disease	Lacrimoauriculodentodigital syndrome
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:2363	"" []	2036674	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Lacrimoauriculodentodigital syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2363	"" []	5817589	\N	\N	EFO	8	EFO	disposition	Lacrimoauriculodentodigital syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2363	"" []	3187022	\N	\N	EFO	5	EFO	genetic disorder	Lacrimoauriculodentodigital syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2363	"" []	3187023	\N	\N	EFO	5	EFO	bone disease	Lacrimoauriculodentodigital syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2363	"" []	3187024	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lacrimoauriculodentodigital syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2363	"" []	3187026	\N	\N	EFO	5	EFO	genetic disorder	Lacrimoauriculodentodigital syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2363	"" []	3187027	\N	\N	EFO	5	EFO	skin disease	Lacrimoauriculodentodigital syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2363	"" []	3187028	\N	\N	EFO	5	EFO	Rare genetic eye disease	Lacrimoauriculodentodigital syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2363	"" []	6409985	\N	\N	EFO	9	EFO	material property	Lacrimoauriculodentodigital syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2363	"" []	4394294	\N	\N	EFO	6	EFO	skeletal system disease	Lacrimoauriculodentodigital syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2363	"" []	4394296	\N	\N	EFO	6	EFO	disease	Lacrimoauriculodentodigital syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2363	"" []	4394297	\N	\N	EFO	6	EFO	genetic disorder	Lacrimoauriculodentodigital syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2363	"" []	4394298	\N	\N	EFO	6	EFO	eye disease	Lacrimoauriculodentodigital syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2363	"" []	6807835	\N	\N	EFO	10	EFO	experimental factor	Lacrimoauriculodentodigital syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2363	"" []	5412550	\N	\N	EFO	7	EFO	disease	Lacrimoauriculodentodigital syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2363	"" []	5412551	\N	\N	EFO	7	EFO	disease	Lacrimoauriculodentodigital syndrome
Orphanet:2364	\N	\N	"" []	Orphanet:2364	"" []	74877	\N	\N	EFO	0	EFO	Glycogen storage disease due to lactate dehydrogenase deficiency	Glycogen storage disease due to lactate dehydrogenase deficiency
Orphanet:79201	Orphanet:2364	\N	"" []	Orphanet:2364	"" []	217101	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to lactate dehydrogenase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:2364	"" []	571778	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to lactate dehydrogenase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:2364	"" []	1154067	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to lactate dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2364	"" []	2036675	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to lactate dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2364	"" []	2036676	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to lactate dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2364	"" []	3187029	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to lactate dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2364	"" []	3187030	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to lactate dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2364	"" []	4394299	\N	\N	EFO	6	EFO	disposition	Glycogen storage disease due to lactate dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2364	"" []	5412552	\N	\N	EFO	7	EFO	material property	Glycogen storage disease due to lactate dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2364	"" []	6149385	\N	\N	EFO	8	EFO	experimental factor	Glycogen storage disease due to lactate dehydrogenase deficiency
Orphanet:237	\N	\N	"" []	Orphanet:237	"" []	74878	\N	\N	EFO	0	EFO	Duplication of urethra	Duplication of urethra
Orphanet:357506	Orphanet:237	\N	"" []	Orphanet:237	"" []	217102	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Duplication of urethra
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:237	"" []	571779	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Duplication of urethra
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:237	"" []	1154068	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Duplication of urethra
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:237	"" []	1154069	\N	\N	EFO	3	EFO	Rare genetic renal disease	Duplication of urethra
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:237	"" []	2036677	\N	\N	EFO	4	EFO	genetic disorder	Duplication of urethra
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:237	"" []	2036678	\N	\N	EFO	4	EFO	genetic disorder	Duplication of urethra
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:237	"" []	3187031	\N	\N	EFO	5	EFO	disease	Duplication of urethra
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:237	"" []	4394300	\N	\N	EFO	6	EFO	disposition	Duplication of urethra
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:237	"" []	5412553	\N	\N	EFO	7	EFO	material property	Duplication of urethra
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:237	"" []	6149386	\N	\N	EFO	8	EFO	experimental factor	Duplication of urethra
Orphanet:2370	\N	\N	"" []	Orphanet:2370	"" []	74879	\N	\N	EFO	0	EFO	Larsen-like osseous dysplasia - short stature	Larsen-like osseous dysplasia - short stature
Orphanet:93441	Orphanet:2370	\N	"" []	Orphanet:2370	"" []	217103	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Larsen-like osseous dysplasia - short stature
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:2370	"" []	571780	\N	\N	EFO	2	EFO	Primary bone dysplasia	Larsen-like osseous dysplasia - short stature
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2370	"" []	1154070	\N	\N	EFO	3	EFO	Rare genetic bone disease	Larsen-like osseous dysplasia - short stature
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2370	"" []	1154071	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Larsen-like osseous dysplasia - short stature
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2370	"" []	2036679	\N	\N	EFO	4	EFO	genetic disorder	Larsen-like osseous dysplasia - short stature
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2370	"" []	2036680	\N	\N	EFO	4	EFO	bone disease	Larsen-like osseous dysplasia - short stature
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2370	"" []	2036681	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Larsen-like osseous dysplasia - short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2370	"" []	4394303	\N	\N	EFO	6	EFO	disease	Larsen-like osseous dysplasia - short stature
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2370	"" []	3187033	\N	\N	EFO	5	EFO	skeletal system disease	Larsen-like osseous dysplasia - short stature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2370	"" []	3187034	\N	\N	EFO	5	EFO	genetic disorder	Larsen-like osseous dysplasia - short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2370	"" []	5182104	\N	\N	EFO	7	EFO	disposition	Larsen-like osseous dysplasia - short stature
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2370	"" []	4394302	\N	\N	EFO	6	EFO	disease	Larsen-like osseous dysplasia - short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2370	"" []	5997478	\N	\N	EFO	8	EFO	material property	Larsen-like osseous dysplasia - short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2370	"" []	6550866	\N	\N	EFO	9	EFO	experimental factor	Larsen-like osseous dysplasia - short stature
Orphanet:2371	\N	\N	"" []	Orphanet:2371	"" []	74880	\N	\N	EFO	0	EFO	Lethal Larsen-like syndrome	Lethal Larsen-like syndrome
Orphanet:139030	Orphanet:2371	\N	"" []	Orphanet:2371	"" []	217104	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Lethal Larsen-like syndrome
Orphanet:93441	Orphanet:2371	\N	"" []	Orphanet:2371	"" []	217105	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Lethal Larsen-like syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:2371	"" []	571781	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Lethal Larsen-like syndrome
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:2371	"" []	571782	\N	\N	EFO	2	EFO	Primary bone dysplasia	Lethal Larsen-like syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2371	"" []	3187038	\N	\N	EFO	5	EFO	genetic disorder	Lethal Larsen-like syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2371	"" []	1154073	\N	\N	EFO	3	EFO	Rare genetic bone disease	Lethal Larsen-like syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2371	"" []	1154074	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Lethal Larsen-like syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2371	"" []	4066888	\N	\N	EFO	6	EFO	disease	Lethal Larsen-like syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2371	"" []	2036683	\N	\N	EFO	4	EFO	genetic disorder	Lethal Larsen-like syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2371	"" []	2036684	\N	\N	EFO	4	EFO	bone disease	Lethal Larsen-like syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2371	"" []	2036685	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lethal Larsen-like syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2371	"" []	5059790	\N	\N	EFO	7	EFO	disposition	Lethal Larsen-like syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2371	"" []	3187037	\N	\N	EFO	5	EFO	skeletal system disease	Lethal Larsen-like syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2371	"" []	5877041	\N	\N	EFO	8	EFO	material property	Lethal Larsen-like syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2371	"" []	4394305	\N	\N	EFO	6	EFO	disease	Lethal Larsen-like syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2371	"" []	6470264	\N	\N	EFO	9	EFO	experimental factor	Lethal Larsen-like syndrome
Orphanet:2373	\N	\N	"" []	Orphanet:2373	"" []	74881	\N	\N	EFO	0	EFO	Congenital laryngomalacia	Congenital laryngomalacia
Orphanet:156249	Orphanet:2373	\N	"" []	Orphanet:2373	"" []	217106	\N	\N	EFO	1	EFO	Larynx anomaly	Congenital laryngomalacia
Orphanet:96333	Orphanet:156249	\N	"" []	Orphanet:2373	"" []	571783	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Congenital laryngomalacia
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2373	"" []	1154075	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Congenital laryngomalacia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2373	"" []	2036686	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital laryngomalacia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2373	"" []	3187039	\N	\N	EFO	5	EFO	genetic disorder	Congenital laryngomalacia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2373	"" []	4394306	\N	\N	EFO	6	EFO	disease	Congenital laryngomalacia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2373	"" []	5412556	\N	\N	EFO	7	EFO	disposition	Congenital laryngomalacia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2373	"" []	6149388	\N	\N	EFO	8	EFO	material property	Congenital laryngomalacia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2373	"" []	6632607	\N	\N	EFO	9	EFO	experimental factor	Congenital laryngomalacia
Orphanet:2374	\N	\N	"" []	Orphanet:2374	"" []	74882	\N	\N	EFO	0	EFO	Congenital laryngeal web	Congenital laryngeal web
Orphanet:156249	Orphanet:2374	\N	"" []	Orphanet:2374	"" []	217107	\N	\N	EFO	1	EFO	Larynx anomaly	Congenital laryngeal web
Orphanet:96333	Orphanet:156249	\N	"" []	Orphanet:2374	"" []	571784	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Congenital laryngeal web
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2374	"" []	1154076	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Congenital laryngeal web
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2374	"" []	2036687	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital laryngeal web
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2374	"" []	3187040	\N	\N	EFO	5	EFO	genetic disorder	Congenital laryngeal web
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2374	"" []	4394307	\N	\N	EFO	6	EFO	disease	Congenital laryngeal web
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2374	"" []	5412557	\N	\N	EFO	7	EFO	disposition	Congenital laryngeal web
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2374	"" []	6149389	\N	\N	EFO	8	EFO	material property	Congenital laryngeal web
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2374	"" []	6632608	\N	\N	EFO	9	EFO	experimental factor	Congenital laryngeal web
Orphanet:2375	\N	\N	"" []	Orphanet:2375	"" []	74883	\N	\N	EFO	0	EFO	Laryngeal abductor paralysis - intellectual disability	Laryngeal abductor paralysis - intellectual disability
Orphanet:98464	Orphanet:2375	\N	"" []	Orphanet:2375	"" []	217108	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Laryngeal abductor paralysis - intellectual disability
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2375	"" []	571785	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Laryngeal abductor paralysis - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2375	"" []	1154077	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Laryngeal abductor paralysis - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2375	"" []	2036688	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Laryngeal abductor paralysis - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2375	"" []	3187041	\N	\N	EFO	5	EFO	genetic disorder	Laryngeal abductor paralysis - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2375	"" []	4394308	\N	\N	EFO	6	EFO	disease	Laryngeal abductor paralysis - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2375	"" []	5412558	\N	\N	EFO	7	EFO	disposition	Laryngeal abductor paralysis - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2375	"" []	6149390	\N	\N	EFO	8	EFO	material property	Laryngeal abductor paralysis - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2375	"" []	6632609	\N	\N	EFO	9	EFO	experimental factor	Laryngeal abductor paralysis - intellectual disability
Orphanet:2377	\N	\N	"" []	Orphanet:2377	"" []	74884	\N	\N	EFO	0	EFO	Laurence-Moon syndrome	Laurence-Moon syndrome
Orphanet:102283	Orphanet:2377	\N	"" []	Orphanet:2377	"" []	217109	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Laurence-Moon syndrome
Orphanet:108987	Orphanet:2377	\N	"" []	Orphanet:2377	"" []	217110	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Laurence-Moon syndrome
Orphanet:181387	Orphanet:2377	\N	"" []	Orphanet:2377	"" []	217111	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Laurence-Moon syndrome
Orphanet:183763	Orphanet:2377	\N	"" []	Orphanet:2377	"" []	217112	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Laurence-Moon syndrome
Orphanet:98661	Orphanet:2377	\N	"" []	Orphanet:2377	"" []	217113	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Laurence-Moon syndrome
Orphanet:98666	Orphanet:2377	\N	"" []	Orphanet:2377	"" []	217114	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Laurence-Moon syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2377	"" []	571786	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Laurence-Moon syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2377	"" []	571787	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Laurence-Moon syndrome
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:2377	"" []	571788	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Laurence-Moon syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2377	"" []	571789	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Laurence-Moon syndrome
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:2377	"" []	571790	\N	\N	EFO	2	EFO	Retinal dystrophy	Laurence-Moon syndrome
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:2377	"" []	571791	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Laurence-Moon syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2377	"" []	1154078	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Laurence-Moon syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2377	"" []	1154079	\N	\N	EFO	3	EFO	Rare genetic eye disease	Laurence-Moon syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2377	"" []	1154080	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Laurence-Moon syndrome
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:2377	"" []	1154081	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Laurence-Moon syndrome
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:2377	"" []	1154082	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Laurence-Moon syndrome
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:2377	"" []	1154083	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Laurence-Moon syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2377	"" []	1154084	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Laurence-Moon syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:2377	"" []	2036697	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Laurence-Moon syndrome
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:2377	"" []	1154086	\N	\N	EFO	3	EFO	Retinal dystrophy	Laurence-Moon syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2377	"" []	2036689	\N	\N	EFO	4	EFO	genetic disorder	Laurence-Moon syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2377	"" []	4133612	\N	\N	EFO	6	EFO	genetic disorder	Laurence-Moon syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2377	"" []	4133613	\N	\N	EFO	6	EFO	eye disease	Laurence-Moon syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:2377	"" []	2036692	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Laurence-Moon syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2377	"" []	2036693	\N	\N	EFO	4	EFO	Rare genetic male infertility	Laurence-Moon syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:2377	"" []	2036694	\N	\N	EFO	4	EFO	Pituitary deficiency	Laurence-Moon syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2377	"" []	2036695	\N	\N	EFO	4	EFO	genetic disorder	Laurence-Moon syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:2377	"" []	3000233	\N	\N	EFO	5	EFO	Rare genetic eye disease	Laurence-Moon syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2377	"" []	6149392	\N	\N	EFO	8	EFO	disease	Laurence-Moon syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2377	"" []	5059792	\N	\N	EFO	7	EFO	disease	Laurence-Moon syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2377	"" []	3187044	\N	\N	EFO	5	EFO	genetic disorder	Laurence-Moon syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:2377	"" []	3187045	\N	\N	EFO	5	EFO	reproductive system disease	Laurence-Moon syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2377	"" []	3187046	\N	\N	EFO	5	EFO	Genetic infertility	Laurence-Moon syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:2377	"" []	3187047	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Laurence-Moon syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2377	"" []	6409986	\N	\N	EFO	9	EFO	disposition	Laurence-Moon syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2377	"" []	5412560	\N	\N	EFO	7	EFO	disease	Laurence-Moon syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2377	"" []	4394311	\N	\N	EFO	6	EFO	genetic disorder	Laurence-Moon syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2377	"" []	4394312	\N	\N	EFO	6	EFO	reproductive system disease	Laurence-Moon syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:2377	"" []	4394313	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Laurence-Moon syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2377	"" []	6807836	\N	\N	EFO	10	EFO	material property	Laurence-Moon syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2377	"" []	5412561	\N	\N	EFO	7	EFO	genetic disorder	Laurence-Moon syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2377	"" []	5412562	\N	\N	EFO	7	EFO	endocrine system disease	Laurence-Moon syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2377	"" []	7048623	\N	\N	EFO	11	EFO	experimental factor	Laurence-Moon syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2377	"" []	6149393	\N	\N	EFO	8	EFO	disease	Laurence-Moon syndrome
Orphanet:2378	\N	\N	"" []	Orphanet:2378	"" []	74885	\N	\N	EFO	0	EFO	Laurin-Sandrow syndrome	Laurin-Sandrow syndrome
Orphanet:294959	Orphanet:2378	\N	"" []	Orphanet:2378	"" []	217115	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Laurin-Sandrow syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2378	"" []	571792	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Laurin-Sandrow syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2378	"" []	571793	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Laurin-Sandrow syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2378	"" []	1154087	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Laurin-Sandrow syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2378	"" []	1154088	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Laurin-Sandrow syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2378	"" []	2036698	\N	\N	EFO	4	EFO	Rare genetic bone disease	Laurin-Sandrow syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2378	"" []	2036699	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Laurin-Sandrow syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2378	"" []	2036700	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Laurin-Sandrow syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2378	"" []	3187050	\N	\N	EFO	5	EFO	genetic disorder	Laurin-Sandrow syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2378	"" []	3187051	\N	\N	EFO	5	EFO	bone disease	Laurin-Sandrow syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2378	"" []	3187052	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Laurin-Sandrow syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2378	"" []	4394316	\N	\N	EFO	6	EFO	genetic disorder	Laurin-Sandrow syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2378	"" []	5182107	\N	\N	EFO	7	EFO	disease	Laurin-Sandrow syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2378	"" []	4394315	\N	\N	EFO	6	EFO	skeletal system disease	Laurin-Sandrow syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2378	"" []	5997481	\N	\N	EFO	8	EFO	disposition	Laurin-Sandrow syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2378	"" []	5412564	\N	\N	EFO	7	EFO	disease	Laurin-Sandrow syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2378	"" []	6550868	\N	\N	EFO	9	EFO	material property	Laurin-Sandrow syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2378	"" []	6889155	\N	\N	EFO	10	EFO	experimental factor	Laurin-Sandrow syndrome
Orphanet:2379	\N	\N	"" []	Orphanet:2379	"" []	74886	\N	\N	EFO	0	EFO	Early-onset parkinsonism - intellectual disability	Early-onset parkinsonism - intellectual disability
Orphanet:307055	Orphanet:2379	\N	"" []	Orphanet:2379	"" []	217116	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Early-onset parkinsonism - intellectual disability
Orphanet:98464	Orphanet:2379	\N	"" []	Orphanet:2379	"" []	217117	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Early-onset parkinsonism - intellectual disability
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2379	"" []	571794	\N	\N	EFO	2	EFO	neurodegenerative disease	Early-onset parkinsonism - intellectual disability
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:2379	"" []	571795	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Early-onset parkinsonism - intellectual disability
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2379	"" []	571796	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Early-onset parkinsonism - intellectual disability
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2379	"" []	1154089	\N	\N	EFO	3	EFO	nervous system disease	Early-onset parkinsonism - intellectual disability
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:2379	"" []	1154090	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Early-onset parkinsonism - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2379	"" []	1154091	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Early-onset parkinsonism - intellectual disability
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2379	"" []	4394318	\N	\N	EFO	6	EFO	disease	Early-onset parkinsonism - intellectual disability
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:2379	"" []	2036702	\N	\N	EFO	4	EFO	movement disorder	Early-onset parkinsonism - intellectual disability
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:2379	"" []	2036703	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Early-onset parkinsonism - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2379	"" []	2036704	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Early-onset parkinsonism - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2379	"" []	5059793	\N	\N	EFO	7	EFO	disposition	Early-onset parkinsonism - intellectual disability
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2379	"" []	3187055	\N	\N	EFO	5	EFO	nervous system disease	Early-onset parkinsonism - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2379	"" []	3187056	\N	\N	EFO	5	EFO	genetic disorder	Early-onset parkinsonism - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2379	"" []	5877043	\N	\N	EFO	8	EFO	material property	Early-onset parkinsonism - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2379	"" []	4394319	\N	\N	EFO	6	EFO	disease	Early-onset parkinsonism - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2379	"" []	6470266	\N	\N	EFO	9	EFO	experimental factor	Early-onset parkinsonism - intellectual disability
Orphanet:238	\N	\N	"" []	Orphanet:238	"" []	74887	\N	\N	EFO	0	EFO	Digestive duplication	Digestive duplication
Orphanet:108967	Orphanet:238	\N	"" []	Orphanet:238	"" []	217118	\N	\N	EFO	1	EFO	Non-syndromic intestinal malformation	Digestive duplication
Orphanet:97945	Orphanet:108967	\N	"" []	Orphanet:238	"" []	571797	\N	\N	EFO	2	EFO	Intestinal malformation	Digestive duplication
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:238	"" []	1154092	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Digestive duplication
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:238	"" []	2036705	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Digestive duplication
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238	"" []	3187057	\N	\N	EFO	5	EFO	genetic disorder	Digestive duplication
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238	"" []	4394320	\N	\N	EFO	6	EFO	disease	Digestive duplication
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238	"" []	5412566	\N	\N	EFO	7	EFO	disposition	Digestive duplication
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238	"" []	6149395	\N	\N	EFO	8	EFO	material property	Digestive duplication
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238	"" []	6632611	\N	\N	EFO	9	EFO	experimental factor	Digestive duplication
Orphanet:2380	\N	\N	"" []	Orphanet:2380	"" []	74888	\N	\N	EFO	0	EFO	Legg-Calv-Perthes disease	Legg-Calv-Perthes disease
Orphanet:93421	Orphanet:2380	\N	"" []	Orphanet:2380	"" []	217119	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Legg-Calv-Perthes disease
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:2380	"" []	571798	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Legg-Calv-Perthes disease
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:2380	"" []	1154093	\N	\N	EFO	3	EFO	Rare genetic bone disease	Legg-Calv-Perthes disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2380	"" []	2036706	\N	\N	EFO	4	EFO	genetic disorder	Legg-Calv-Perthes disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2380	"" []	2036707	\N	\N	EFO	4	EFO	bone disease	Legg-Calv-Perthes disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2380	"" []	3187058	\N	\N	EFO	5	EFO	disease	Legg-Calv-Perthes disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2380	"" []	3187059	\N	\N	EFO	5	EFO	skeletal system disease	Legg-Calv-Perthes disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2380	"" []	5412568	\N	\N	EFO	7	EFO	disposition	Legg-Calv-Perthes disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2380	"" []	4394322	\N	\N	EFO	6	EFO	disease	Legg-Calv-Perthes disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2380	"" []	5997482	\N	\N	EFO	8	EFO	material property	Legg-Calv-Perthes disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2380	"" []	6550869	\N	\N	EFO	9	EFO	experimental factor	Legg-Calv-Perthes disease
Orphanet:2382	\N	\N	"" []	Orphanet:2382	"" []	74889	\N	\N	EFO	0	EFO	Lennox-Gastaut syndrome	Lennox-Gastaut syndrome
Orphanet:98259	Orphanet:2382	\N	"" []	Orphanet:2382	"" []	217120	\N	\N	EFO	1	EFO	Childhood-onset epilepsy syndrome	Lennox-Gastaut syndrome
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:2382	"" []	571799	\N	\N	EFO	2	EFO	Epilepsy syndrome	Lennox-Gastaut syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:2382	"" []	1154094	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Lennox-Gastaut syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2382	"" []	2036708	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lennox-Gastaut syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2382	"" []	3187060	\N	\N	EFO	5	EFO	genetic disorder	Lennox-Gastaut syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2382	"" []	4394323	\N	\N	EFO	6	EFO	disease	Lennox-Gastaut syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2382	"" []	5412569	\N	\N	EFO	7	EFO	disposition	Lennox-Gastaut syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2382	"" []	6149397	\N	\N	EFO	8	EFO	material property	Lennox-Gastaut syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2382	"" []	6632612	\N	\N	EFO	9	EFO	experimental factor	Lennox-Gastaut syndrome
Orphanet:238269	\N	\N	"" []	Orphanet:238269	"" []	74890	\N	\N	EFO	0	EFO	Familial renal amyloidosis due to Apolipoprotein AII variant	Familial renal amyloidosis due to Apolipoprotein AII variant
Orphanet:85450	Orphanet:238269	\N	"" []	Orphanet:238269	"" []	217121	\N	\N	EFO	1	EFO	Familial renal amyloidosis	Familial renal amyloidosis due to Apolipoprotein AII variant
Orphanet:183586	Orphanet:85450	\N	"" []	Orphanet:238269	"" []	571800	\N	\N	EFO	2	EFO	Genetic glomerular disease	Familial renal amyloidosis due to Apolipoprotein AII variant
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:238269	"" []	1154095	\N	\N	EFO	3	EFO	Rare genetic renal disease	Familial renal amyloidosis due to Apolipoprotein AII variant
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238269	"" []	2036709	\N	\N	EFO	4	EFO	genetic disorder	Familial renal amyloidosis due to Apolipoprotein AII variant
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238269	"" []	3187061	\N	\N	EFO	5	EFO	disease	Familial renal amyloidosis due to Apolipoprotein AII variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238269	"" []	4394324	\N	\N	EFO	6	EFO	disposition	Familial renal amyloidosis due to Apolipoprotein AII variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238269	"" []	5412570	\N	\N	EFO	7	EFO	material property	Familial renal amyloidosis due to Apolipoprotein AII variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238269	"" []	6149398	\N	\N	EFO	8	EFO	experimental factor	Familial renal amyloidosis due to Apolipoprotein AII variant
Orphanet:238329	\N	\N	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	74891	\N	\N	EFO	0	EFO	Severe X-linked mitochondrial encephalomyopathy	Severe X-linked mitochondrial encephalomyopathy
Orphanet:35696	Orphanet:238329	\N	"" []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	217122	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Severe X-linked mitochondrial encephalomyopathy
Orphanet:68385	Orphanet:238329	\N	"" []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	217123	\N	\N	EFO	1	EFO	Neurometabolic disease	Severe X-linked mitochondrial encephalomyopathy
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	571801	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Severe X-linked mitochondrial encephalomyopathy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	571802	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Severe X-linked mitochondrial encephalomyopathy
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	1154096	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Severe X-linked mitochondrial encephalomyopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	1154097	\N	\N	EFO	3	EFO	genetic disorder	Severe X-linked mitochondrial encephalomyopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	2036710	\N	\N	EFO	4	EFO	Mitochondrial disease	Severe X-linked mitochondrial encephalomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	6149399	\N	\N	EFO	8	EFO	disease	Severe X-linked mitochondrial encephalomyopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	3187062	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Severe X-linked mitochondrial encephalomyopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	3187063	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Severe X-linked mitochondrial encephalomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	6378870	\N	\N	EFO	9	EFO	disposition	Severe X-linked mitochondrial encephalomyopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	4394325	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Severe X-linked mitochondrial encephalomyopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	4394326	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Severe X-linked mitochondrial encephalomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	6778667	\N	\N	EFO	10	EFO	material property	Severe X-linked mitochondrial encephalomyopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	5412571	\N	\N	EFO	7	EFO	genetic disorder	Severe X-linked mitochondrial encephalomyopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	5412572	\N	\N	EFO	7	EFO	genetic disorder	Severe X-linked mitochondrial encephalomyopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	5412573	\N	\N	EFO	7	EFO	metabolic disease	Severe X-linked mitochondrial encephalomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	7029874	\N	\N	EFO	11	EFO	experimental factor	Severe X-linked mitochondrial encephalomyopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238329	"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." []	6149400	\N	\N	EFO	8	EFO	disease	Severe X-linked mitochondrial encephalomyopathy
Orphanet:238446	\N	\N	"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." []	Orphanet:238446	"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." []	74892	\N	\N	EFO	0	EFO	15q11q13 microduplication syndrome	15q11q13 microduplication syndrome
Orphanet:262950	Orphanet:238446	\N	"" []	Orphanet:238446	"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." []	217124	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 15	15q11q13 microduplication syndrome
Orphanet:98132	Orphanet:262950	\N	"" []	Orphanet:238446	"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." []	571803	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	15q11q13 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:238446	"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." []	1154098	\N	\N	EFO	3	EFO	Autosomal trisomy	15q11q13 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:238446	"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." []	2036712	\N	\N	EFO	4	EFO	Autosomal anomaly	15q11q13 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:238446	"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." []	3187065	\N	\N	EFO	5	EFO	Chromosomal anomaly	15q11q13 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238446	"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." []	4394328	\N	\N	EFO	6	EFO	genetic disorder	15q11q13 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238446	"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." []	5412575	\N	\N	EFO	7	EFO	disease	15q11q13 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238446	"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." []	6149401	\N	\N	EFO	8	EFO	disposition	15q11q13 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238446	"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." []	6632613	\N	\N	EFO	9	EFO	material property	15q11q13 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238446	"The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." []	6925583	\N	\N	EFO	10	EFO	experimental factor	15q11q13 microduplication syndrome
Orphanet:238455	\N	\N	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	74893	\N	\N	EFO	0	EFO	Infantile dystonia-parkinsonism	Infantile dystonia-parkinsonism
Orphanet:307055	Orphanet:238455	\N	"" []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	217125	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Infantile dystonia-parkinsonism
Orphanet:391711	Orphanet:238455	\N	"" []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	217126	\N	\N	EFO	1	EFO	Persistent combined dystonia	Infantile dystonia-parkinsonism
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	571804	\N	\N	EFO	2	EFO	neurodegenerative disease	Infantile dystonia-parkinsonism
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	571805	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Infantile dystonia-parkinsonism
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	571806	\N	\N	EFO	2	EFO	Combined dystonia	Infantile dystonia-parkinsonism
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	1154099	\N	\N	EFO	3	EFO	nervous system disease	Infantile dystonia-parkinsonism
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	1154100	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Infantile dystonia-parkinsonism
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	1154101	\N	\N	EFO	3	EFO	Rare genetic dystonia	Infantile dystonia-parkinsonism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	5182108	\N	\N	EFO	7	EFO	disease	Infantile dystonia-parkinsonism
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	3187069	\N	\N	EFO	5	EFO	movement disorder	Infantile dystonia-parkinsonism
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	3187070	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Infantile dystonia-parkinsonism
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	2036716	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Infantile dystonia-parkinsonism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	5817590	\N	\N	EFO	8	EFO	disposition	Infantile dystonia-parkinsonism
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	4133614	\N	\N	EFO	6	EFO	nervous system disease	Infantile dystonia-parkinsonism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	4133615	\N	\N	EFO	6	EFO	genetic disorder	Infantile dystonia-parkinsonism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	6409987	\N	\N	EFO	9	EFO	material property	Infantile dystonia-parkinsonism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	5182109	\N	\N	EFO	7	EFO	disease	Infantile dystonia-parkinsonism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238455	"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." []	6807837	\N	\N	EFO	10	EFO	experimental factor	Infantile dystonia-parkinsonism
Orphanet:238459	\N	\N	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	74894	\N	\N	EFO	0	EFO	SLC35A1-CDG	SLC35A1-CDG
Orphanet:309526	Orphanet:238459	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	217127	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	SLC35A1-CDG
Orphanet:371064	Orphanet:238459	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	217128	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	SLC35A1-CDG
Orphanet:371071	Orphanet:238459	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	217129	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	SLC35A1-CDG
Orphanet:371207	Orphanet:238459	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	217130	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with nephropathy as a major feature	SLC35A1-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	571807	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	SLC35A1-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	571808	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	SLC35A1-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	571809	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	SLC35A1-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	571810	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	SLC35A1-CDG
Orphanet:93593	Orphanet:371207	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	571811	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	SLC35A1-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	1154102	\N	\N	EFO	3	EFO	Inborn errors of metabolism	SLC35A1-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	1154103	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	SLC35A1-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	1154104	\N	\N	EFO	3	EFO	Neurometabolic disease	SLC35A1-CDG
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	1154105	\N	\N	EFO	3	EFO	Rare genetic renal disease	SLC35A1-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	2036717	\N	\N	EFO	4	EFO	genetic disorder	SLC35A1-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	2036718	\N	\N	EFO	4	EFO	metabolic disease	SLC35A1-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	2036719	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	SLC35A1-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	2036720	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	SLC35A1-CDG
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	2036721	\N	\N	EFO	4	EFO	genetic disorder	SLC35A1-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	5182111	\N	\N	EFO	7	EFO	disease	SLC35A1-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	3187072	\N	\N	EFO	5	EFO	disease	SLC35A1-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	3187073	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	SLC35A1-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	4394333	\N	\N	EFO	6	EFO	genetic disorder	SLC35A1-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	5877045	\N	\N	EFO	8	EFO	disposition	SLC35A1-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	6470268	\N	\N	EFO	9	EFO	material property	SLC35A1-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238459	"Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." []	6848434	\N	\N	EFO	10	EFO	experimental factor	SLC35A1-CDG
Orphanet:238468	\N	\N	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	74895	\N	\N	EFO	0	EFO	Hypohidrotic ectodermal dysplasia	Hypohidrotic ectodermal dysplasia
EFO:0004198	Orphanet:238468	\N	"Tumors or cancer of the SKIN." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	217131	\N	\N	EFO	1	EFO	skin neoplasm	Hypohidrotic ectodermal dysplasia
Orphanet:79373	Orphanet:238468	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	217132	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Hypohidrotic ectodermal dysplasia
Orphanet:98604	Orphanet:238468	\N	"" []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	217133	\N	\N	EFO	1	EFO	Congenital alacrima	Hypohidrotic ectodermal dysplasia
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	571812	\N	\N	EFO	2	EFO	neoplasm	Hypohidrotic ectodermal dysplasia
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	571813	\N	\N	EFO	2	EFO	skin disease	Hypohidrotic ectodermal dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	571814	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Hypohidrotic ectodermal dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	571815	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Hypohidrotic ectodermal dysplasia
Orphanet:98603	Orphanet:98604	\N	"" []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	571816	\N	\N	EFO	2	EFO	Secretory apparatus of the lacrimal system anomaly	Hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	1154106	\N	\N	EFO	3	EFO	disease	Hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	3187077	\N	\N	EFO	5	EFO	disease	Hypohidrotic ectodermal dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	1154108	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypohidrotic ectodermal dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	1154109	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hypohidrotic ectodermal dysplasia
Orphanet:98602	Orphanet:98603	\N	"" []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	1154110	\N	\N	EFO	3	EFO	Rare lacrimal system disease	Hypohidrotic ectodermal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	5877047	\N	\N	EFO	8	EFO	disposition	Hypohidrotic ectodermal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	2036723	\N	\N	EFO	4	EFO	genetic disorder	Hypohidrotic ectodermal dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	2036724	\N	\N	EFO	4	EFO	genetic disorder	Hypohidrotic ectodermal dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	2036725	\N	\N	EFO	4	EFO	skin disease	Hypohidrotic ectodermal dysplasia
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	2036726	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Hypohidrotic ectodermal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	6378871	\N	\N	EFO	9	EFO	material property	Hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	5412578	\N	\N	EFO	7	EFO	disease	Hypohidrotic ectodermal dysplasia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	3187078	\N	\N	EFO	5	EFO	Rare genetic eye disease	Hypohidrotic ectodermal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	6778668	\N	\N	EFO	10	EFO	experimental factor	Hypohidrotic ectodermal dysplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	4394336	\N	\N	EFO	6	EFO	genetic disorder	Hypohidrotic ectodermal dysplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	4394337	\N	\N	EFO	6	EFO	eye disease	Hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238468	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	5412579	\N	\N	EFO	7	EFO	disease	Hypohidrotic ectodermal dysplasia
Orphanet:238475	\N	\N	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	74896	\N	\N	EFO	0	EFO	Familial hypercholanemia	Familial hypercholanemia
Orphanet:163631	Orphanet:238475	\N	"" []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	217134	\N	\N	EFO	1	EFO	Bile acid synthesis defect with cholestasis and malabsorption	Familial hypercholanemia
Orphanet:284385	Orphanet:163631	\N	"" []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	571817	\N	\N	EFO	2	EFO	Familial intrahepatic cholestasis	Familial hypercholanemia
Orphanet:79168	Orphanet:163631	\N	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	571818	\N	\N	EFO	2	EFO	Disorder of bile acid synthesis	Familial hypercholanemia
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	1154111	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Familial hypercholanemia
Orphanet:79226	Orphanet:79168	\N	"" []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	1154112	\N	\N	EFO	3	EFO	Sterol metabolism disorder	Familial hypercholanemia
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	2036727	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Familial hypercholanemia
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	2036728	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Familial hypercholanemia
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	3187079	\N	\N	EFO	5	EFO	digestive system disease	Familial hypercholanemia
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	3187080	\N	\N	EFO	5	EFO	genetic disorder	Familial hypercholanemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	3187081	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Familial hypercholanemia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	4394338	\N	\N	EFO	6	EFO	disease	Familial hypercholanemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	5412581	\N	\N	EFO	7	EFO	disease	Familial hypercholanemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	4394340	\N	\N	EFO	6	EFO	genetic disorder	Familial hypercholanemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	4394341	\N	\N	EFO	6	EFO	metabolic disease	Familial hypercholanemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	5997484	\N	\N	EFO	8	EFO	disposition	Familial hypercholanemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	5412582	\N	\N	EFO	7	EFO	disease	Familial hypercholanemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	6550871	\N	\N	EFO	9	EFO	material property	Familial hypercholanemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238475	"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." []	6889156	\N	\N	EFO	10	EFO	experimental factor	Familial hypercholanemia
Orphanet:238505	\N	\N	"" []	Orphanet:238505	"" []	74897	\N	\N	EFO	0	EFO	Autosomal recessive lymphoproliferative disease	Autosomal recessive lymphoproliferative disease
Orphanet:158038	Orphanet:238505	\N	"" []	Orphanet:238505	"" []	217135	\N	\N	EFO	1	EFO	Primary hemophagocytic lymphohistiocytosis	Autosomal recessive lymphoproliferative disease
Orphanet:238510	Orphanet:238505	\N	"" []	Orphanet:238505	"" []	217136	\N	\N	EFO	1	EFO	Lymphoproliferative syndrome	Autosomal recessive lymphoproliferative disease
Orphanet:169361	Orphanet:158038	\N	"" []	Orphanet:238505	"" []	571819	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Autosomal recessive lymphoproliferative disease
EFO:0005803	Orphanet:238510	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:238505	"" []	571820	\N	\N	EFO	2	EFO	hematological system disease	Autosomal recessive lymphoproliferative disease
Orphanet:140162	Orphanet:238510	\N	"" []	Orphanet:238505	"" []	571821	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Autosomal recessive lymphoproliferative disease
Orphanet:169361	Orphanet:238510	\N	"" []	Orphanet:238505	"" []	571822	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Autosomal recessive lymphoproliferative disease
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:238505	"" []	1154113	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Autosomal recessive lymphoproliferative disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238505	"" []	1154114	\N	\N	EFO	3	EFO	disease	Autosomal recessive lymphoproliferative disease
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238505	"" []	1154115	\N	\N	EFO	3	EFO	genetic disorder	Autosomal recessive lymphoproliferative disease
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:238505	"" []	2036729	\N	\N	EFO	4	EFO	Primary immunodeficiency	Autosomal recessive lymphoproliferative disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238505	"" []	5817591	\N	\N	EFO	8	EFO	disposition	Autosomal recessive lymphoproliferative disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238505	"" []	5412583	\N	\N	EFO	7	EFO	disease	Autosomal recessive lymphoproliferative disease
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:238505	"" []	3187082	\N	\N	EFO	5	EFO	Rare genetic immune disease	Autosomal recessive lymphoproliferative disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238505	"" []	6378872	\N	\N	EFO	9	EFO	material property	Autosomal recessive lymphoproliferative disease
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238505	"" []	4394342	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive lymphoproliferative disease
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:238505	"" []	4394343	\N	\N	EFO	6	EFO	immune system disease	Autosomal recessive lymphoproliferative disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238505	"" []	6778669	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive lymphoproliferative disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238505	"" []	5412584	\N	\N	EFO	7	EFO	disease	Autosomal recessive lymphoproliferative disease
Orphanet:238510	\N	\N	"" []	Orphanet:238510	"" []	74898	\N	\N	EFO	0	EFO	Lymphoproliferative syndrome	Lymphoproliferative syndrome
EFO:0005803	Orphanet:238510	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:238510	"" []	217137	\N	\N	EFO	1	EFO	hematological system disease	Lymphoproliferative syndrome
Orphanet:140162	Orphanet:238510	\N	"" []	Orphanet:238510	"" []	217138	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Lymphoproliferative syndrome
Orphanet:169361	Orphanet:238510	\N	"" []	Orphanet:238510	"" []	217139	\N	\N	EFO	1	EFO	Immune dysregulation disease with immunodeficiency	Lymphoproliferative syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238510	"" []	571823	\N	\N	EFO	2	EFO	disease	Lymphoproliferative syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238510	"" []	571824	\N	\N	EFO	2	EFO	genetic disorder	Lymphoproliferative syndrome
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:238510	"" []	571825	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Lymphoproliferative syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238510	"" []	5028419	\N	\N	EFO	7	EFO	disposition	Lymphoproliferative syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238510	"" []	4394345	\N	\N	EFO	6	EFO	disease	Lymphoproliferative syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:238510	"" []	1154118	\N	\N	EFO	3	EFO	Primary immunodeficiency	Lymphoproliferative syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238510	"" []	5801855	\N	\N	EFO	8	EFO	material property	Lymphoproliferative syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:238510	"" []	2036734	\N	\N	EFO	4	EFO	Rare genetic immune disease	Lymphoproliferative syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238510	"" []	6378873	\N	\N	EFO	9	EFO	experimental factor	Lymphoproliferative syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238510	"" []	3187086	\N	\N	EFO	5	EFO	genetic disorder	Lymphoproliferative syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:238510	"" []	3187087	\N	\N	EFO	5	EFO	immune system disease	Lymphoproliferative syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238510	"" []	4394346	\N	\N	EFO	6	EFO	disease	Lymphoproliferative syndrome
Orphanet:238517	\N	\N	"" []	Orphanet:238517	"" []	74899	\N	\N	EFO	0	EFO	Hypotonia - cystinuria type 1	Hypotonia - cystinuria type 1
Orphanet:183592	Orphanet:238517	\N	"" []	Orphanet:238517	"" []	217140	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Hypotonia - cystinuria type 1
Orphanet:369886	Orphanet:238517	\N	"" []	Orphanet:238517	"" []	217141	\N	\N	EFO	1	EFO	Homozygous 2p21 microdeletion syndrome	Hypotonia - cystinuria type 1
Orphanet:68380	Orphanet:238517	\N	"" []	Orphanet:238517	"" []	217142	\N	\N	EFO	1	EFO	Mitochondrial disease	Hypotonia - cystinuria type 1
Orphanet:79166	Orphanet:238517	\N	"" []	Orphanet:238517	"" []	217143	\N	\N	EFO	1	EFO	Disorder of amino acid absorption and transport	Hypotonia - cystinuria type 1
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:238517	"" []	571826	\N	\N	EFO	2	EFO	Rare genetic renal disease	Hypotonia - cystinuria type 1
Orphanet:261866	Orphanet:369886	\N	"" []	Orphanet:238517	"" []	571827	\N	\N	EFO	2	EFO	Partial deletion of the short arm of chromosome 2	Hypotonia - cystinuria type 1
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:238517	"" []	571828	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Hypotonia - cystinuria type 1
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:238517	"" []	571829	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Hypotonia - cystinuria type 1
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:238517	"" []	571830	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Hypotonia - cystinuria type 1
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238517	"" []	1154119	\N	\N	EFO	3	EFO	genetic disorder	Hypotonia - cystinuria type 1
Orphanet:261771	Orphanet:261866	\N	"" []	Orphanet:238517	"" []	1154120	\N	\N	EFO	3	EFO	Partial deletion of chromosome 2	Hypotonia - cystinuria type 1
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:238517	"" []	1154121	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypotonia - cystinuria type 1
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:238517	"" []	1154122	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hypotonia - cystinuria type 1
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:238517	"" []	1154123	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hypotonia - cystinuria type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238517	"" []	6632615	\N	\N	EFO	9	EFO	disease	Hypotonia - cystinuria type 1
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:238517	"" []	2036736	\N	\N	EFO	4	EFO	Partial autosomal monosomy	Hypotonia - cystinuria type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238517	"" []	2036737	\N	\N	EFO	4	EFO	genetic disorder	Hypotonia - cystinuria type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238517	"" []	2036738	\N	\N	EFO	4	EFO	genetic disorder	Hypotonia - cystinuria type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:238517	"" []	2036739	\N	\N	EFO	4	EFO	metabolic disease	Hypotonia - cystinuria type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238517	"" []	6762370	\N	\N	EFO	10	EFO	disposition	Hypotonia - cystinuria type 1
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:238517	"" []	3187089	\N	\N	EFO	5	EFO	Autosomal monosomy	Hypotonia - cystinuria type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238517	"" []	3187091	\N	\N	EFO	5	EFO	disease	Hypotonia - cystinuria type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238517	"" []	7015677	\N	\N	EFO	11	EFO	material property	Hypotonia - cystinuria type 1
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:238517	"" []	4394348	\N	\N	EFO	6	EFO	Autosomal anomaly	Hypotonia - cystinuria type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238517	"" []	7173624	\N	\N	EFO	12	EFO	experimental factor	Hypotonia - cystinuria type 1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:238517	"" []	5412586	\N	\N	EFO	7	EFO	Chromosomal anomaly	Hypotonia - cystinuria type 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238517	"" []	6149404	\N	\N	EFO	8	EFO	genetic disorder	Hypotonia - cystinuria type 1
Orphanet:238523	\N	\N	"" []	Orphanet:238523	"" []	74900	\N	\N	EFO	0	EFO	Atypical hypotonia - cystinuria syndrome	Atypical hypotonia - cystinuria syndrome
Orphanet:238517	Orphanet:238523	\N	"" []	Orphanet:238523	"" []	217144	\N	\N	EFO	1	EFO	Hypotonia - cystinuria type 1	Atypical hypotonia - cystinuria syndrome
Orphanet:183592	Orphanet:238517	\N	"" []	Orphanet:238523	"" []	571831	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Atypical hypotonia - cystinuria syndrome
Orphanet:369886	Orphanet:238517	\N	"" []	Orphanet:238523	"" []	571832	\N	\N	EFO	2	EFO	Homozygous 2p21 microdeletion syndrome	Atypical hypotonia - cystinuria syndrome
Orphanet:68380	Orphanet:238517	\N	"" []	Orphanet:238523	"" []	571833	\N	\N	EFO	2	EFO	Mitochondrial disease	Atypical hypotonia - cystinuria syndrome
Orphanet:79166	Orphanet:238517	\N	"" []	Orphanet:238523	"" []	571834	\N	\N	EFO	2	EFO	Disorder of amino acid absorption and transport	Atypical hypotonia - cystinuria syndrome
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:238523	"" []	1154124	\N	\N	EFO	3	EFO	Rare genetic renal disease	Atypical hypotonia - cystinuria syndrome
Orphanet:261866	Orphanet:369886	\N	"" []	Orphanet:238523	"" []	1154125	\N	\N	EFO	3	EFO	Partial deletion of the short arm of chromosome 2	Atypical hypotonia - cystinuria syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:238523	"" []	1154126	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Atypical hypotonia - cystinuria syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:238523	"" []	1154127	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Atypical hypotonia - cystinuria syndrome
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:238523	"" []	1154128	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Atypical hypotonia - cystinuria syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238523	"" []	2036740	\N	\N	EFO	4	EFO	genetic disorder	Atypical hypotonia - cystinuria syndrome
Orphanet:261771	Orphanet:261866	\N	"" []	Orphanet:238523	"" []	2036741	\N	\N	EFO	4	EFO	Partial deletion of chromosome 2	Atypical hypotonia - cystinuria syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:238523	"" []	2036742	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Atypical hypotonia - cystinuria syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:238523	"" []	2036743	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Atypical hypotonia - cystinuria syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:238523	"" []	2036744	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Atypical hypotonia - cystinuria syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238523	"" []	6925584	\N	\N	EFO	10	EFO	disease	Atypical hypotonia - cystinuria syndrome
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:238523	"" []	3187093	\N	\N	EFO	5	EFO	Partial autosomal monosomy	Atypical hypotonia - cystinuria syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238523	"" []	3187094	\N	\N	EFO	5	EFO	genetic disorder	Atypical hypotonia - cystinuria syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238523	"" []	3187095	\N	\N	EFO	5	EFO	genetic disorder	Atypical hypotonia - cystinuria syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:238523	"" []	3187096	\N	\N	EFO	5	EFO	metabolic disease	Atypical hypotonia - cystinuria syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238523	"" []	7015678	\N	\N	EFO	11	EFO	disposition	Atypical hypotonia - cystinuria syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:238523	"" []	4394350	\N	\N	EFO	6	EFO	Autosomal monosomy	Atypical hypotonia - cystinuria syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238523	"" []	4394352	\N	\N	EFO	6	EFO	disease	Atypical hypotonia - cystinuria syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238523	"" []	7173625	\N	\N	EFO	12	EFO	material property	Atypical hypotonia - cystinuria syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:238523	"" []	5412588	\N	\N	EFO	7	EFO	Autosomal anomaly	Atypical hypotonia - cystinuria syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238523	"" []	7275673	\N	\N	EFO	13	EFO	experimental factor	Atypical hypotonia - cystinuria syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:238523	"" []	6149406	\N	\N	EFO	8	EFO	Chromosomal anomaly	Atypical hypotonia - cystinuria syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238523	"" []	6632616	\N	\N	EFO	9	EFO	genetic disorder	Atypical hypotonia - cystinuria syndrome
Orphanet:238536	\N	\N	"" []	Orphanet:238536	"" []	74901	\N	\N	EFO	0	EFO	Congenital secondary polycythemia	Congenital secondary polycythemia
Orphanet:98428	Orphanet:238536	\N	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	Orphanet:238536	"" []	217145	\N	\N	EFO	1	EFO	Secondary polycythemia	Congenital secondary polycythemia
Orphanet:250165	Orphanet:98428	\N	"" []	Orphanet:238536	"" []	571835	\N	\N	EFO	2	EFO	Genetic polycythemia	Congenital secondary polycythemia
EFO:0005804	Orphanet:250165	\N	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	Orphanet:238536	"" []	1154129	\N	\N	EFO	3	EFO	polycythemia	Congenital secondary polycythemia
Orphanet:158300	Orphanet:250165	\N	"" []	Orphanet:238536	"" []	1154130	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital secondary polycythemia
EFO:0005803	EFO:0005804	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:238536	"" []	2036745	\N	\N	EFO	4	EFO	hematological system disease	Congenital secondary polycythemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238536	"" []	2036746	\N	\N	EFO	4	EFO	genetic disorder	Congenital secondary polycythemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:238536	"" []	2036747	\N	\N	EFO	4	EFO	hematological system disease	Congenital secondary polycythemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238536	"" []	3187097	\N	\N	EFO	5	EFO	disease	Congenital secondary polycythemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238536	"" []	3187098	\N	\N	EFO	5	EFO	disease	Congenital secondary polycythemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238536	"" []	4394353	\N	\N	EFO	6	EFO	disposition	Congenital secondary polycythemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238536	"" []	5412589	\N	\N	EFO	7	EFO	material property	Congenital secondary polycythemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238536	"" []	6149407	\N	\N	EFO	8	EFO	experimental factor	Congenital secondary polycythemia
Orphanet:238557	\N	\N	"" []	Orphanet:238557	"" []	74902	\N	\N	EFO	0	EFO	Chuvash erythrocytosis	Chuvash erythrocytosis
Orphanet:238536	Orphanet:238557	\N	"" []	Orphanet:238557	"" []	217146	\N	\N	EFO	1	EFO	Congenital secondary polycythemia	Chuvash erythrocytosis
Orphanet:98428	Orphanet:238536	\N	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	Orphanet:238557	"" []	571836	\N	\N	EFO	2	EFO	Secondary polycythemia	Chuvash erythrocytosis
Orphanet:250165	Orphanet:98428	\N	"" []	Orphanet:238557	"" []	1154131	\N	\N	EFO	3	EFO	Genetic polycythemia	Chuvash erythrocytosis
EFO:0005804	Orphanet:250165	\N	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	Orphanet:238557	"" []	2036748	\N	\N	EFO	4	EFO	polycythemia	Chuvash erythrocytosis
Orphanet:158300	Orphanet:250165	\N	"" []	Orphanet:238557	"" []	2036749	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Chuvash erythrocytosis
EFO:0005803	EFO:0005804	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:238557	"" []	3187099	\N	\N	EFO	5	EFO	hematological system disease	Chuvash erythrocytosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238557	"" []	3187100	\N	\N	EFO	5	EFO	genetic disorder	Chuvash erythrocytosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:238557	"" []	3187101	\N	\N	EFO	5	EFO	hematological system disease	Chuvash erythrocytosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238557	"" []	4394354	\N	\N	EFO	6	EFO	disease	Chuvash erythrocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238557	"" []	4394355	\N	\N	EFO	6	EFO	disease	Chuvash erythrocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238557	"" []	5412590	\N	\N	EFO	7	EFO	disposition	Chuvash erythrocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238557	"" []	6149408	\N	\N	EFO	8	EFO	material property	Chuvash erythrocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238557	"" []	6632617	\N	\N	EFO	9	EFO	experimental factor	Chuvash erythrocytosis
Orphanet:238569	\N	\N	"" []	Orphanet:238569	"" []	74903	\N	\N	EFO	0	EFO	Autosomal recessive early-onset inflammatory bowel disease	Autosomal recessive early-onset inflammatory bowel disease
EFO:0003767	Orphanet:238569	\N	"A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]" []	Orphanet:238569	"" []	217147	\N	\N	EFO	1	EFO	inflammatory bowel disease	Autosomal recessive early-onset inflammatory bowel disease
Orphanet:165655	Orphanet:238569	\N	"" []	Orphanet:238569	"" []	217148	\N	\N	EFO	1	EFO	Genetic intestinal disease	Autosomal recessive early-onset inflammatory bowel disease
EFO:0000405	EFO:0003767	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:238569	"" []	571837	\N	\N	EFO	2	EFO	digestive system disease	Autosomal recessive early-onset inflammatory bowel disease
EFO:0005140	EFO:0003767	\N	"Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease." []	Orphanet:238569	"" []	571838	\N	\N	EFO	2	EFO	autoimmune disease	Autosomal recessive early-onset inflammatory bowel disease
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:238569	"" []	571839	\N	\N	EFO	2	EFO	digestive system disease	Autosomal recessive early-onset inflammatory bowel disease
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:238569	"" []	571840	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Autosomal recessive early-onset inflammatory bowel disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238569	"" []	1154132	\N	\N	EFO	3	EFO	disease	Autosomal recessive early-onset inflammatory bowel disease
EFO:0000540	EFO:0005140	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:238569	"" []	1154133	\N	\N	EFO	3	EFO	immune system disease	Autosomal recessive early-onset inflammatory bowel disease
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238569	"" []	1154134	\N	\N	EFO	3	EFO	genetic disorder	Autosomal recessive early-onset inflammatory bowel disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238569	"" []	3187103	\N	\N	EFO	5	EFO	disposition	Autosomal recessive early-onset inflammatory bowel disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238569	"" []	2036751	\N	\N	EFO	4	EFO	disease	Autosomal recessive early-onset inflammatory bowel disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238569	"" []	2036752	\N	\N	EFO	4	EFO	disease	Autosomal recessive early-onset inflammatory bowel disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238569	"" []	4133619	\N	\N	EFO	6	EFO	material property	Autosomal recessive early-onset inflammatory bowel disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238569	"" []	5182115	\N	\N	EFO	7	EFO	experimental factor	Autosomal recessive early-onset inflammatory bowel disease
Orphanet:238578	\N	\N	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	74904	\N	\N	EFO	0	EFO	Familial clubfoot due to 17q23.1q23.2 microduplication	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:199315	Orphanet:238578	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	217149	\N	\N	EFO	1	EFO	Familial clubfoot with or without associated lower limb anomalies	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:262968	Orphanet:238578	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	217150	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 17	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:404571	Orphanet:199315	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	571841	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:404577	Orphanet:199315	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	571842	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:262677	Orphanet:262968	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	571843	\N	\N	EFO	2	EFO	Partial duplication of chromosome 17	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	1154135	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	1154136	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:98132	Orphanet:262677	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	1154137	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	2036753	\N	\N	EFO	4	EFO	Rare genetic bone disease	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	2036754	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	2036755	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	2036756	\N	\N	EFO	4	EFO	Autosomal trisomy	Familial clubfoot due to 17q23.1q23.2 microduplication
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	3187104	\N	\N	EFO	5	EFO	genetic disorder	Familial clubfoot due to 17q23.1q23.2 microduplication
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	3187105	\N	\N	EFO	5	EFO	bone disease	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	3187106	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Familial clubfoot due to 17q23.1q23.2 microduplication
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	4394359	\N	\N	EFO	6	EFO	genetic disorder	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	3187108	\N	\N	EFO	5	EFO	Autosomal anomaly	Familial clubfoot due to 17q23.1q23.2 microduplication
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	6149410	\N	\N	EFO	8	EFO	disease	Familial clubfoot due to 17q23.1q23.2 microduplication
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	4394358	\N	\N	EFO	6	EFO	skeletal system disease	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	4394360	\N	\N	EFO	6	EFO	Chromosomal anomaly	Familial clubfoot due to 17q23.1q23.2 microduplication
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	6470269	\N	\N	EFO	9	EFO	disposition	Familial clubfoot due to 17q23.1q23.2 microduplication
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	5412592	\N	\N	EFO	7	EFO	disease	Familial clubfoot due to 17q23.1q23.2 microduplication
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	5412593	\N	\N	EFO	7	EFO	genetic disorder	Familial clubfoot due to 17q23.1q23.2 microduplication
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	6848435	\N	\N	EFO	10	EFO	material property	Familial clubfoot due to 17q23.1q23.2 microduplication
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238578	"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." []	7068435	\N	\N	EFO	11	EFO	experimental factor	Familial clubfoot due to 17q23.1q23.2 microduplication
Orphanet:238583	\N	\N	"" []	Orphanet:238583	"" []	74905	\N	\N	EFO	0	EFO	Hyperphenylalaninemia	Hyperphenylalaninemia
Orphanet:309819	Orphanet:238583	\N	"" []	Orphanet:238583	"" []	217151	\N	\N	EFO	1	EFO	Disorder of pterin metabolism	Hyperphenylalaninemia
Orphanet:68385	Orphanet:238583	\N	"" []	Orphanet:238583	"" []	217152	\N	\N	EFO	1	EFO	Neurometabolic disease	Hyperphenylalaninemia
Orphanet:79169	Orphanet:309819	\N	"" []	Orphanet:238583	"" []	571844	\N	\N	EFO	2	EFO	Disorder of neurotransmitter metabolism and transport	Hyperphenylalaninemia
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:238583	"" []	571845	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hyperphenylalaninemia
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:238583	"" []	1154138	\N	\N	EFO	3	EFO	Disorder of biogenic amine metabolism and transport	Hyperphenylalaninemia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238583	"" []	1154139	\N	\N	EFO	3	EFO	genetic disorder	Hyperphenylalaninemia
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:238583	"" []	2036757	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hyperphenylalaninemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238583	"" []	4394361	\N	\N	EFO	6	EFO	disease	Hyperphenylalaninemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238583	"" []	3187109	\N	\N	EFO	5	EFO	genetic disorder	Hyperphenylalaninemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:238583	"" []	3187110	\N	\N	EFO	5	EFO	metabolic disease	Hyperphenylalaninemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238583	"" []	5059796	\N	\N	EFO	7	EFO	disposition	Hyperphenylalaninemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238583	"" []	4394362	\N	\N	EFO	6	EFO	disease	Hyperphenylalaninemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238583	"" []	5877048	\N	\N	EFO	8	EFO	material property	Hyperphenylalaninemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238583	"" []	6470270	\N	\N	EFO	9	EFO	experimental factor	Hyperphenylalaninemia
Orphanet:2386	\N	\N	"" []	Orphanet:2386	"" []	74906	\N	\N	EFO	0	EFO	Leukoencephalopathy-palmoplantar keratoderma syndrome	Leukoencephalopathy-palmoplantar keratoderma syndrome
Orphanet:308041	Orphanet:2386	\N	"" []	Orphanet:2386	"" []	217153	\N	\N	EFO	1	EFO	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature	Leukoencephalopathy-palmoplantar keratoderma syndrome
Orphanet:308023	Orphanet:308041	\N	"" []	Orphanet:2386	"" []	571846	\N	\N	EFO	2	EFO	Disease with punctate palmoplantar keratoderma as a major feature	Leukoencephalopathy-palmoplantar keratoderma syndrome
Orphanet:307967	Orphanet:308023	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:2386	"" []	1154140	\N	\N	EFO	3	EFO	Punctate palmoplantar keratoderma	Leukoencephalopathy-palmoplantar keratoderma syndrome
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:2386	"" []	2036759	\N	\N	EFO	4	EFO	palmoplantar keratosis	Leukoencephalopathy-palmoplantar keratoderma syndrome
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:2386	"" []	2036760	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Leukoencephalopathy-palmoplantar keratoderma syndrome
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:2386	"" []	3187112	\N	\N	EFO	5	EFO	keratosis	Leukoencephalopathy-palmoplantar keratoderma syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:2386	"" []	3187113	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Leukoencephalopathy-palmoplantar keratoderma syndrome
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2386	"" []	4394364	\N	\N	EFO	6	EFO	skin disease	Leukoencephalopathy-palmoplantar keratoderma syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2386	"" []	4394365	\N	\N	EFO	6	EFO	Rare genetic skin disease	Leukoencephalopathy-palmoplantar keratoderma syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2386	"" []	6149413	\N	\N	EFO	8	EFO	disease	Leukoencephalopathy-palmoplantar keratoderma syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2386	"" []	5412596	\N	\N	EFO	7	EFO	genetic disorder	Leukoencephalopathy-palmoplantar keratoderma syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2386	"" []	5412597	\N	\N	EFO	7	EFO	skin disease	Leukoencephalopathy-palmoplantar keratoderma syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2386	"" []	6550874	\N	\N	EFO	9	EFO	disposition	Leukoencephalopathy-palmoplantar keratoderma syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2386	"" []	6149412	\N	\N	EFO	8	EFO	disease	Leukoencephalopathy-palmoplantar keratoderma syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2386	"" []	6889158	\N	\N	EFO	10	EFO	material property	Leukoencephalopathy-palmoplantar keratoderma syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2386	"" []	7085917	\N	\N	EFO	11	EFO	experimental factor	Leukoencephalopathy-palmoplantar keratoderma syndrome
Orphanet:238613	\N	\N	"" []	Orphanet:238613	"" []	74907	\N	\N	EFO	0	EFO	Beckwith-Wiedemann syndrome due to NSD1 mutation	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:116	Orphanet:238613	\N	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	Orphanet:238613	"" []	217154	\N	\N	EFO	1	EFO	Beckwith-Wiedemann syndrome	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:156207	Orphanet:116	\N	"" []	Orphanet:238613	"" []	571847	\N	\N	EFO	2	EFO	Macroglossia	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:156237	Orphanet:116	\N	"" []	Orphanet:238613	"" []	571848	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:183422	Orphanet:116	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:238613	"" []	571849	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:183595	Orphanet:116	\N	"" []	Orphanet:238613	"" []	571850	\N	\N	EFO	2	EFO	Genetic renal tumor	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:217595	Orphanet:116	\N	"" []	Orphanet:238613	"" []	571851	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:93460	Orphanet:116	\N	"" []	Orphanet:238613	"" []	571852	\N	\N	EFO	2	EFO	Overgrowth syndrome	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:93547	Orphanet:116	\N	"" []	Orphanet:238613	"" []	571853	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:238613	"" []	1154141	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:238613	"" []	1154142	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:238613	"" []	1154143	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:238613	"" []	1154144	\N	\N	EFO	3	EFO	urogenital neoplasm	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:238613	"" []	1154145	\N	\N	EFO	3	EFO	Rare genetic tumor	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:238613	"" []	1154146	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:238613	"" []	1154147	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:238613	"" []	1154148	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:238613	"" []	3187115	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:238613	"" []	2036762	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238613	"" []	2036763	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:238613	"" []	2036764	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238613	"" []	2036765	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:238613	"" []	2036766	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:238613	"" []	2036767	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:238613	"" []	2036768	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:238613	"" []	2036769	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:238613	"" []	2036770	\N	\N	EFO	4	EFO	Rare genetic renal disease	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238613	"" []	4133620	\N	\N	EFO	6	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238613	"" []	5182117	\N	\N	EFO	7	EFO	disease	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238613	"" []	3187117	\N	\N	EFO	5	EFO	disease	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238613	"" []	3187118	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:238613	"" []	3187119	\N	\N	EFO	5	EFO	heart disease	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238613	"" []	3187120	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to NSD1 mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238613	"" []	5877049	\N	\N	EFO	8	EFO	disposition	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:238613	"" []	4394368	\N	\N	EFO	6	EFO	cardiovascular disease	Beckwith-Wiedemann syndrome due to NSD1 mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238613	"" []	6470271	\N	\N	EFO	9	EFO	material property	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238613	"" []	5412599	\N	\N	EFO	7	EFO	disease	Beckwith-Wiedemann syndrome due to NSD1 mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238613	"" []	6848436	\N	\N	EFO	10	EFO	experimental factor	Beckwith-Wiedemann syndrome due to NSD1 mutation
Orphanet:238642	\N	\N	"" []	Orphanet:238642	"" []	74908	\N	\N	EFO	0	EFO	Primary megaureter, adult-onset form	Primary megaureter, adult-onset form
Orphanet:617	Orphanet:238642	\N	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	Orphanet:238642	"" []	217155	\N	\N	EFO	1	EFO	Congenital primary megaureter	Primary megaureter, adult-onset form
Orphanet:357506	Orphanet:617	\N	"" []	Orphanet:238642	"" []	571854	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Primary megaureter, adult-onset form
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:238642	"" []	1154149	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Primary megaureter, adult-onset form
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:238642	"" []	2036771	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Primary megaureter, adult-onset form
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:238642	"" []	2036772	\N	\N	EFO	4	EFO	Rare genetic renal disease	Primary megaureter, adult-onset form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238642	"" []	3187121	\N	\N	EFO	5	EFO	genetic disorder	Primary megaureter, adult-onset form
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238642	"" []	3187122	\N	\N	EFO	5	EFO	genetic disorder	Primary megaureter, adult-onset form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238642	"" []	4394369	\N	\N	EFO	6	EFO	disease	Primary megaureter, adult-onset form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238642	"" []	5412600	\N	\N	EFO	7	EFO	disposition	Primary megaureter, adult-onset form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238642	"" []	6149415	\N	\N	EFO	8	EFO	material property	Primary megaureter, adult-onset form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238642	"" []	6632620	\N	\N	EFO	9	EFO	experimental factor	Primary megaureter, adult-onset form
Orphanet:238646	\N	\N	"" []	Orphanet:238646	"" []	74909	\N	\N	EFO	0	EFO	Congenital primary megaureter, obstructed form	Congenital primary megaureter, obstructed form
Orphanet:617	Orphanet:238646	\N	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	Orphanet:238646	"" []	217156	\N	\N	EFO	1	EFO	Congenital primary megaureter	Congenital primary megaureter, obstructed form
Orphanet:357506	Orphanet:617	\N	"" []	Orphanet:238646	"" []	571855	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Congenital primary megaureter, obstructed form
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:238646	"" []	1154150	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Congenital primary megaureter, obstructed form
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:238646	"" []	2036773	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital primary megaureter, obstructed form
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:238646	"" []	2036774	\N	\N	EFO	4	EFO	Rare genetic renal disease	Congenital primary megaureter, obstructed form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238646	"" []	3187123	\N	\N	EFO	5	EFO	genetic disorder	Congenital primary megaureter, obstructed form
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238646	"" []	3187124	\N	\N	EFO	5	EFO	genetic disorder	Congenital primary megaureter, obstructed form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238646	"" []	4394370	\N	\N	EFO	6	EFO	disease	Congenital primary megaureter, obstructed form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238646	"" []	5412601	\N	\N	EFO	7	EFO	disposition	Congenital primary megaureter, obstructed form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238646	"" []	6149416	\N	\N	EFO	8	EFO	material property	Congenital primary megaureter, obstructed form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238646	"" []	6632621	\N	\N	EFO	9	EFO	experimental factor	Congenital primary megaureter, obstructed form
Orphanet:238650	\N	\N	"" []	Orphanet:238650	"" []	74910	\N	\N	EFO	0	EFO	Congenital primary megaureter, refluxing form	Congenital primary megaureter, refluxing form
Orphanet:617	Orphanet:238650	\N	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	Orphanet:238650	"" []	217157	\N	\N	EFO	1	EFO	Congenital primary megaureter	Congenital primary megaureter, refluxing form
Orphanet:357506	Orphanet:617	\N	"" []	Orphanet:238650	"" []	571856	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Congenital primary megaureter, refluxing form
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:238650	"" []	1154151	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Congenital primary megaureter, refluxing form
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:238650	"" []	2036775	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital primary megaureter, refluxing form
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:238650	"" []	2036776	\N	\N	EFO	4	EFO	Rare genetic renal disease	Congenital primary megaureter, refluxing form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238650	"" []	3187125	\N	\N	EFO	5	EFO	genetic disorder	Congenital primary megaureter, refluxing form
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238650	"" []	3187126	\N	\N	EFO	5	EFO	genetic disorder	Congenital primary megaureter, refluxing form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238650	"" []	4394371	\N	\N	EFO	6	EFO	disease	Congenital primary megaureter, refluxing form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238650	"" []	5412602	\N	\N	EFO	7	EFO	disposition	Congenital primary megaureter, refluxing form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238650	"" []	6149417	\N	\N	EFO	8	EFO	material property	Congenital primary megaureter, refluxing form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238650	"" []	6632622	\N	\N	EFO	9	EFO	experimental factor	Congenital primary megaureter, refluxing form
Orphanet:238654	\N	\N	"" []	Orphanet:238654	"" []	74911	\N	\N	EFO	0	EFO	Congenital primary megaureter, nonrefluxing and unobstructed form	Congenital primary megaureter, nonrefluxing and unobstructed form
Orphanet:617	Orphanet:238654	\N	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	Orphanet:238654	"" []	217158	\N	\N	EFO	1	EFO	Congenital primary megaureter	Congenital primary megaureter, nonrefluxing and unobstructed form
Orphanet:357506	Orphanet:617	\N	"" []	Orphanet:238654	"" []	571857	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Congenital primary megaureter, nonrefluxing and unobstructed form
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:238654	"" []	1154152	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Congenital primary megaureter, nonrefluxing and unobstructed form
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:238654	"" []	2036777	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital primary megaureter, nonrefluxing and unobstructed form
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:238654	"" []	2036778	\N	\N	EFO	4	EFO	Rare genetic renal disease	Congenital primary megaureter, nonrefluxing and unobstructed form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238654	"" []	3187127	\N	\N	EFO	5	EFO	genetic disorder	Congenital primary megaureter, nonrefluxing and unobstructed form
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238654	"" []	3187128	\N	\N	EFO	5	EFO	genetic disorder	Congenital primary megaureter, nonrefluxing and unobstructed form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238654	"" []	4394372	\N	\N	EFO	6	EFO	disease	Congenital primary megaureter, nonrefluxing and unobstructed form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238654	"" []	5412603	\N	\N	EFO	7	EFO	disposition	Congenital primary megaureter, nonrefluxing and unobstructed form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238654	"" []	6149418	\N	\N	EFO	8	EFO	material property	Congenital primary megaureter, nonrefluxing and unobstructed form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238654	"" []	6632623	\N	\N	EFO	9	EFO	experimental factor	Congenital primary megaureter, nonrefluxing and unobstructed form
Orphanet:238666	\N	\N	"" []	Orphanet:238666	"" []	74912	\N	\N	EFO	0	EFO	Isolated congenital hypogonadotropic hypogonadism	Isolated congenital hypogonadotropic hypogonadism
Orphanet:174590	Orphanet:238666	\N	"" []	Orphanet:238666	"" []	217159	\N	\N	EFO	1	EFO	Congenital hypogonadotropic hypogonadism	Isolated congenital hypogonadotropic hypogonadism
Orphanet:399839	Orphanet:238666	\N	"" []	Orphanet:238666	"" []	217160	\N	\N	EFO	1	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Isolated congenital hypogonadotropic hypogonadism
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:238666	"" []	571858	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Isolated congenital hypogonadotropic hypogonadism
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:238666	"" []	571859	\N	\N	EFO	2	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Isolated congenital hypogonadotropic hypogonadism
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:238666	"" []	571860	\N	\N	EFO	2	EFO	Non-acquired pituitary hormone deficiency	Isolated congenital hypogonadotropic hypogonadism
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:238666	"" []	571861	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Isolated congenital hypogonadotropic hypogonadism
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:238666	"" []	1154153	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Isolated congenital hypogonadotropic hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:238666	"" []	1154154	\N	\N	EFO	3	EFO	Rare genetic male infertility	Isolated congenital hypogonadotropic hypogonadism
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:238666	"" []	1154155	\N	\N	EFO	3	EFO	Pituitary deficiency	Isolated congenital hypogonadotropic hypogonadism
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:238666	"" []	1154156	\N	\N	EFO	3	EFO	Rare genetic female infertility	Isolated congenital hypogonadotropic hypogonadism
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238666	"" []	2036779	\N	\N	EFO	4	EFO	genetic disorder	Isolated congenital hypogonadotropic hypogonadism
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:238666	"" []	2036780	\N	\N	EFO	4	EFO	reproductive system disease	Isolated congenital hypogonadotropic hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:238666	"" []	2036781	\N	\N	EFO	4	EFO	Genetic infertility	Isolated congenital hypogonadotropic hypogonadism
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:238666	"" []	2036782	\N	\N	EFO	4	EFO	Rare genetic hypothalamic or pituitary disease	Isolated congenital hypogonadotropic hypogonadism
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:238666	"" []	2036783	\N	\N	EFO	4	EFO	Genetic infertility	Isolated congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238666	"" []	5412605	\N	\N	EFO	7	EFO	disease	Isolated congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238666	"" []	4394375	\N	\N	EFO	6	EFO	disease	Isolated congenital hypogonadotropic hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238666	"" []	3187131	\N	\N	EFO	5	EFO	genetic disorder	Isolated congenital hypogonadotropic hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:238666	"" []	3187132	\N	\N	EFO	5	EFO	reproductive system disease	Isolated congenital hypogonadotropic hypogonadism
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:238666	"" []	3187133	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Isolated congenital hypogonadotropic hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238666	"" []	5877050	\N	\N	EFO	8	EFO	disposition	Isolated congenital hypogonadotropic hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238666	"" []	4394376	\N	\N	EFO	6	EFO	genetic disorder	Isolated congenital hypogonadotropic hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:238666	"" []	4394377	\N	\N	EFO	6	EFO	endocrine system disease	Isolated congenital hypogonadotropic hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238666	"" []	6470272	\N	\N	EFO	9	EFO	material property	Isolated congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238666	"" []	5412606	\N	\N	EFO	7	EFO	disease	Isolated congenital hypogonadotropic hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238666	"" []	6848437	\N	\N	EFO	10	EFO	experimental factor	Isolated congenital hypogonadotropic hypogonadism
Orphanet:238670	\N	\N	"" []	Orphanet:238670	"" []	74913	\N	\N	EFO	0	EFO	Isolated thyrotropin-releasing hormone deficiency	Isolated thyrotropin-releasing hormone deficiency
Orphanet:226298	Orphanet:238670	\N	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	Orphanet:238670	"" []	217161	\N	\N	EFO	1	EFO	Central congenital hypothyroidism	Isolated thyrotropin-releasing hormone deficiency
Orphanet:226292	Orphanet:226298	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:238670	"" []	571862	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Isolated thyrotropin-releasing hormone deficiency
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:238670	"" []	1154157	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Isolated thyrotropin-releasing hormone deficiency
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:238670	"" []	2036784	\N	\N	EFO	4	EFO	Rare hypothyroidism	Isolated thyrotropin-releasing hormone deficiency
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:238670	"" []	3187134	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Isolated thyrotropin-releasing hormone deficiency
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:238670	"" []	4394378	\N	\N	EFO	6	EFO	thyroid disease	Isolated thyrotropin-releasing hormone deficiency
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:238670	"" []	4394379	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Isolated thyrotropin-releasing hormone deficiency
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:238670	"" []	5412607	\N	\N	EFO	7	EFO	endocrine system disease	Isolated thyrotropin-releasing hormone deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238670	"" []	5412608	\N	\N	EFO	7	EFO	genetic disorder	Isolated thyrotropin-releasing hormone deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:238670	"" []	5412609	\N	\N	EFO	7	EFO	endocrine system disease	Isolated thyrotropin-releasing hormone deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238670	"" []	6149420	\N	\N	EFO	8	EFO	disease	Isolated thyrotropin-releasing hormone deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238670	"" []	6149421	\N	\N	EFO	8	EFO	disease	Isolated thyrotropin-releasing hormone deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238670	"" []	6632624	\N	\N	EFO	9	EFO	disposition	Isolated thyrotropin-releasing hormone deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238670	"" []	6925586	\N	\N	EFO	10	EFO	material property	Isolated thyrotropin-releasing hormone deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238670	"" []	7099063	\N	\N	EFO	11	EFO	experimental factor	Isolated thyrotropin-releasing hormone deficiency
Orphanet:2387	\N	\N	"" []	Orphanet:2387	"" []	74914	\N	\N	EFO	0	EFO	Leukonychia totalis	Leukonychia totalis
Orphanet:79369	Orphanet:2387	\N	"" []	Orphanet:2387	"" []	217162	\N	\N	EFO	1	EFO	Isolated nail anomaly	Leukonychia totalis
Orphanet:183454	Orphanet:79369	\N	"" []	Orphanet:2387	"" []	571863	\N	\N	EFO	2	EFO	Genetic nail anomaly	Leukonychia totalis
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:2387	"" []	1154158	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Leukonychia totalis
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2387	"" []	2036785	\N	\N	EFO	4	EFO	Rare genetic skin disease	Leukonychia totalis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2387	"" []	3187135	\N	\N	EFO	5	EFO	genetic disorder	Leukonychia totalis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2387	"" []	3187136	\N	\N	EFO	5	EFO	skin disease	Leukonychia totalis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2387	"" []	4394380	\N	\N	EFO	6	EFO	disease	Leukonychia totalis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2387	"" []	4394381	\N	\N	EFO	6	EFO	disease	Leukonychia totalis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2387	"" []	5412610	\N	\N	EFO	7	EFO	disposition	Leukonychia totalis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2387	"" []	6149422	\N	\N	EFO	8	EFO	material property	Leukonychia totalis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2387	"" []	6632625	\N	\N	EFO	9	EFO	experimental factor	Leukonychia totalis
Orphanet:238722	\N	\N	"" []	Orphanet:238722	"" []	74915	\N	\N	EFO	0	EFO	Familial congenital mirror movements	Familial congenital mirror movements
Orphanet:183521	Orphanet:238722	\N	"" []	Orphanet:238722	"" []	217163	\N	\N	EFO	1	EFO	Rare genetic movement disorder	Familial congenital mirror movements
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:238722	"" []	571864	\N	\N	EFO	2	EFO	movement disorder	Familial congenital mirror movements
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:238722	"" []	571865	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Familial congenital mirror movements
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:238722	"" []	1154159	\N	\N	EFO	3	EFO	nervous system disease	Familial congenital mirror movements
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238722	"" []	1154160	\N	\N	EFO	3	EFO	genetic disorder	Familial congenital mirror movements
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238722	"" []	2036786	\N	\N	EFO	4	EFO	disease	Familial congenital mirror movements
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238722	"" []	2036787	\N	\N	EFO	4	EFO	disease	Familial congenital mirror movements
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238722	"" []	3187137	\N	\N	EFO	5	EFO	disposition	Familial congenital mirror movements
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238722	"" []	4394382	\N	\N	EFO	6	EFO	material property	Familial congenital mirror movements
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238722	"" []	5412611	\N	\N	EFO	7	EFO	experimental factor	Familial congenital mirror movements
Orphanet:238744	\N	\N	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	74916	\N	\N	EFO	0	EFO	Mammary-digital-nail syndrome	Mammary-digital-nail syndrome
Orphanet:183731	Orphanet:238744	\N	"" []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	217164	\N	\N	EFO	1	EFO	Rare genetic gynecological and obstetrical diseases	Mammary-digital-nail syndrome
Orphanet:404574	Orphanet:238744	\N	"" []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	217165	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Mammary-digital-nail syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	571866	\N	\N	EFO	2	EFO	genetic disorder	Mammary-digital-nail syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	571867	\N	\N	EFO	2	EFO	reproductive system disease	Mammary-digital-nail syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	571868	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Mammary-digital-nail syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	571869	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Mammary-digital-nail syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	5182120	\N	\N	EFO	7	EFO	disease	Mammary-digital-nail syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	1154162	\N	\N	EFO	3	EFO	disease	Mammary-digital-nail syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	1154163	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Mammary-digital-nail syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	1154164	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Mammary-digital-nail syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	5801856	\N	\N	EFO	8	EFO	disposition	Mammary-digital-nail syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	2036789	\N	\N	EFO	4	EFO	Rare genetic bone disease	Mammary-digital-nail syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	2036790	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Mammary-digital-nail syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	2036791	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mammary-digital-nail syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	6378874	\N	\N	EFO	9	EFO	material property	Mammary-digital-nail syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	3187139	\N	\N	EFO	5	EFO	genetic disorder	Mammary-digital-nail syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	3187140	\N	\N	EFO	5	EFO	bone disease	Mammary-digital-nail syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	3187141	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mammary-digital-nail syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	4394386	\N	\N	EFO	6	EFO	genetic disorder	Mammary-digital-nail syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	6778670	\N	\N	EFO	10	EFO	experimental factor	Mammary-digital-nail syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	4394385	\N	\N	EFO	6	EFO	skeletal system disease	Mammary-digital-nail syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238744	"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." []	5412612	\N	\N	EFO	7	EFO	disease	Mammary-digital-nail syndrome
Orphanet:238750	\N	\N	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	Orphanet:238750	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	74917	\N	\N	EFO	0	EFO	4q21 microdeletion syndrome	4q21 microdeletion syndrome
Orphanet:262029	Orphanet:238750	\N	"" []	Orphanet:238750	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	217166	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 4	4q21 microdeletion syndrome
Orphanet:261781	Orphanet:262029	\N	"" []	Orphanet:238750	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	571870	\N	\N	EFO	2	EFO	Partial deletion of chromosome 4	4q21 microdeletion syndrome
Orphanet:98142	Orphanet:261781	\N	"" []	Orphanet:238750	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	1154165	\N	\N	EFO	3	EFO	Partial autosomal monosomy	4q21 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:238750	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	2036792	\N	\N	EFO	4	EFO	Autosomal monosomy	4q21 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:238750	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	3187143	\N	\N	EFO	5	EFO	Autosomal anomaly	4q21 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:238750	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	4394387	\N	\N	EFO	6	EFO	Chromosomal anomaly	4q21 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238750	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	5412613	\N	\N	EFO	7	EFO	genetic disorder	4q21 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238750	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	6149423	\N	\N	EFO	8	EFO	disease	4q21 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238750	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	6632626	\N	\N	EFO	9	EFO	disposition	4q21 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238750	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	6925587	\N	\N	EFO	10	EFO	material property	4q21 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238750	"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." []	7099064	\N	\N	EFO	11	EFO	experimental factor	4q21 microdeletion syndrome
Orphanet:238755	\N	\N	"" []	Orphanet:238755	"" []	74918	\N	\N	EFO	0	EFO	Autosomal dominant limb-girdle muscular dystrophy type 1H	Autosomal dominant limb-girdle muscular dystrophy type 1H
Orphanet:102014	Orphanet:238755	\N	"" []	Orphanet:238755	"" []	217167	\N	\N	EFO	1	EFO	Autosomal dominant limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1H
Orphanet:263	Orphanet:102014	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:238755	"" []	571871	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1H
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:238755	"" []	1154166	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1H
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:238755	"" []	2036793	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1H
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:238755	"" []	3187144	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal dominant limb-girdle muscular dystrophy type 1H
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:238755	"" []	4394388	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1H
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:238755	"" []	5412614	\N	\N	EFO	7	EFO	muscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1H
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:238755	"" []	5412615	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal dominant limb-girdle muscular dystrophy type 1H
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:238755	"" []	6149424	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal dominant limb-girdle muscular dystrophy type 1H
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238755	"" []	6149425	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant limb-girdle muscular dystrophy type 1H
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238755	"" []	6632627	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1H
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238755	"" []	6632628	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1H
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238755	"" []	6925588	\N	\N	EFO	10	EFO	disposition	Autosomal dominant limb-girdle muscular dystrophy type 1H
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238755	"" []	7099065	\N	\N	EFO	11	EFO	material property	Autosomal dominant limb-girdle muscular dystrophy type 1H
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238755	"" []	7208292	\N	\N	EFO	12	EFO	experimental factor	Autosomal dominant limb-girdle muscular dystrophy type 1H
Orphanet:238763	\N	\N	"" []	Orphanet:238763	"" []	74919	\N	\N	EFO	0	EFO	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Orphanet:359	Orphanet:238763	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:238763	"" []	217168	\N	\N	EFO	1	EFO	Hereditary glaucoma	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:238763	"" []	571872	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:238763	"" []	1154167	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:238763	"" []	2036794	\N	\N	EFO	4	EFO	Rare genetic eye disease	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:238763	"" []	2036795	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238763	"" []	3187145	\N	\N	EFO	5	EFO	genetic disorder	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:238763	"" []	3187146	\N	\N	EFO	5	EFO	eye disease	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238763	"" []	3187147	\N	\N	EFO	5	EFO	genetic disorder	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238763	"" []	4394389	\N	\N	EFO	6	EFO	disease	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238763	"" []	4394390	\N	\N	EFO	6	EFO	disease	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238763	"" []	5412616	\N	\N	EFO	7	EFO	disposition	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238763	"" []	6149426	\N	\N	EFO	8	EFO	material property	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238763	"" []	6632629	\N	\N	EFO	9	EFO	experimental factor	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Orphanet:238766	\N	\N	"" []	Orphanet:238766	"" []	74920	\N	\N	EFO	0	EFO	Ptosis - syndactyly - learning difficulties	Ptosis - syndactyly - learning difficulties
Orphanet:102283	Orphanet:238766	\N	"" []	Orphanet:238766	"" []	217169	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Ptosis - syndactyly - learning difficulties
Orphanet:183763	Orphanet:238766	\N	"" []	Orphanet:238766	"" []	217170	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Ptosis - syndactyly - learning difficulties
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:238766	"" []	571873	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ptosis - syndactyly - learning difficulties
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:238766	"" []	571874	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Ptosis - syndactyly - learning difficulties
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:238766	"" []	1154168	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ptosis - syndactyly - learning difficulties
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:238766	"" []	1154169	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ptosis - syndactyly - learning difficulties
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238766	"" []	2036796	\N	\N	EFO	4	EFO	genetic disorder	Ptosis - syndactyly - learning difficulties
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238766	"" []	2036797	\N	\N	EFO	4	EFO	genetic disorder	Ptosis - syndactyly - learning difficulties
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238766	"" []	3187148	\N	\N	EFO	5	EFO	disease	Ptosis - syndactyly - learning difficulties
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238766	"" []	4394391	\N	\N	EFO	6	EFO	disposition	Ptosis - syndactyly - learning difficulties
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238766	"" []	5412617	\N	\N	EFO	7	EFO	material property	Ptosis - syndactyly - learning difficulties
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238766	"" []	6149427	\N	\N	EFO	8	EFO	experimental factor	Ptosis - syndactyly - learning difficulties
Orphanet:238769	\N	\N	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	Orphanet:238769	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	74921	\N	\N	EFO	0	EFO	1q44 microdeletion syndrome	1q44 microdeletion syndrome
Orphanet:262001	Orphanet:238769	\N	"" []	Orphanet:238769	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	217171	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 1	1q44 microdeletion syndrome
Orphanet:261766	Orphanet:262001	\N	"" []	Orphanet:238769	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	571875	\N	\N	EFO	2	EFO	Partial deletion of chromosome 1	1q44 microdeletion syndrome
Orphanet:98142	Orphanet:261766	\N	"" []	Orphanet:238769	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	1154170	\N	\N	EFO	3	EFO	Partial autosomal monosomy	1q44 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:238769	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	2036798	\N	\N	EFO	4	EFO	Autosomal monosomy	1q44 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:238769	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	3187149	\N	\N	EFO	5	EFO	Autosomal anomaly	1q44 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:238769	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	4394392	\N	\N	EFO	6	EFO	Chromosomal anomaly	1q44 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:238769	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	5412618	\N	\N	EFO	7	EFO	genetic disorder	1q44 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:238769	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	6149428	\N	\N	EFO	8	EFO	disease	1q44 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:238769	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	6632630	\N	\N	EFO	9	EFO	disposition	1q44 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:238769	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	6925589	\N	\N	EFO	10	EFO	material property	1q44 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:238769	"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." []	7099066	\N	\N	EFO	11	EFO	experimental factor	1q44 microdeletion syndrome
Orphanet:2388	\N	\N	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	74922	\N	\N	EFO	0	EFO	Choreoacanthocytosis	Choreoacanthocytosis
Orphanet:207018	Orphanet:2388	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	217172	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Choreoacanthocytosis
Orphanet:263440	Orphanet:2388	\N	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	217173	\N	\N	EFO	1	EFO	Neuroacanthocytosis	Choreoacanthocytosis
Orphanet:68385	Orphanet:2388	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	217174	\N	\N	EFO	1	EFO	Neurometabolic disease	Choreoacanthocytosis
Orphanet:79360	Orphanet:2388	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	217175	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Choreoacanthocytosis
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	571876	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Choreoacanthocytosis
Orphanet:158266	Orphanet:263440	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	571877	\N	\N	EFO	2	EFO	Huntington disease-like syndrome	Choreoacanthocytosis
Orphanet:307058	Orphanet:263440	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	571878	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Choreoacanthocytosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	571879	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Choreoacanthocytosis
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	571880	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Choreoacanthocytosis
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	1154171	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Choreoacanthocytosis
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	1154172	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Choreoacanthocytosis
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	1154173	\N	\N	EFO	3	EFO	neurodegenerative disease	Choreoacanthocytosis
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	1154174	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Choreoacanthocytosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	3187150	\N	\N	EFO	5	EFO	genetic disorder	Choreoacanthocytosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	1154176	\N	\N	EFO	3	EFO	Rare genetic skin disease	Choreoacanthocytosis
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	2036799	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Choreoacanthocytosis
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	2036800	\N	\N	EFO	4	EFO	neurodegenerative disease	Choreoacanthocytosis
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	2036801	\N	\N	EFO	4	EFO	brain disease	Choreoacanthocytosis
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	2036802	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Choreoacanthocytosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	3187151	\N	\N	EFO	5	EFO	nervous system disease	Choreoacanthocytosis
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	2036804	\N	\N	EFO	4	EFO	movement disorder	Choreoacanthocytosis
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	2036805	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Choreoacanthocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	4066890	\N	\N	EFO	6	EFO	disease	Choreoacanthocytosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	2036807	\N	\N	EFO	4	EFO	genetic disorder	Choreoacanthocytosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	2036808	\N	\N	EFO	4	EFO	skin disease	Choreoacanthocytosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	3187152	\N	\N	EFO	5	EFO	nervous system disease	Choreoacanthocytosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	4133621	\N	\N	EFO	6	EFO	disease	Choreoacanthocytosis
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	3187154	\N	\N	EFO	5	EFO	nervous system disease	Choreoacanthocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	5059797	\N	\N	EFO	7	EFO	disposition	Choreoacanthocytosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	3187157	\N	\N	EFO	5	EFO	disease	Choreoacanthocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	5877051	\N	\N	EFO	8	EFO	material property	Choreoacanthocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2388	"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." []	6470273	\N	\N	EFO	9	EFO	experimental factor	Choreoacanthocytosis
Orphanet:239	\N	\N	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	74923	\N	\N	EFO	0	EFO	Dyggve-Melchior-Clausen disease	Dyggve-Melchior-Clausen disease
Orphanet:253	Orphanet:239	\N	"" []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	217176	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Dyggve-Melchior-Clausen disease
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	571881	\N	\N	EFO	2	EFO	Primary bone dysplasia	Dyggve-Melchior-Clausen disease
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	1154177	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dyggve-Melchior-Clausen disease
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	1154178	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dyggve-Melchior-Clausen disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	2036809	\N	\N	EFO	4	EFO	genetic disorder	Dyggve-Melchior-Clausen disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	2036810	\N	\N	EFO	4	EFO	bone disease	Dyggve-Melchior-Clausen disease
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	2036811	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dyggve-Melchior-Clausen disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	4394396	\N	\N	EFO	6	EFO	disease	Dyggve-Melchior-Clausen disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	3187159	\N	\N	EFO	5	EFO	skeletal system disease	Dyggve-Melchior-Clausen disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	3187160	\N	\N	EFO	5	EFO	genetic disorder	Dyggve-Melchior-Clausen disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	5182122	\N	\N	EFO	7	EFO	disposition	Dyggve-Melchior-Clausen disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	4394395	\N	\N	EFO	6	EFO	disease	Dyggve-Melchior-Clausen disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	5997491	\N	\N	EFO	8	EFO	material property	Dyggve-Melchior-Clausen disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:239	"Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." []	6550877	\N	\N	EFO	9	EFO	experimental factor	Dyggve-Melchior-Clausen disease
Orphanet:2390	\N	\N	"" []	Orphanet:2390	"" []	74924	\N	\N	EFO	0	EFO	Lichstenstein syndrome	Lichstenstein syndrome
Orphanet:331184	Orphanet:2390	\N	"" []	Orphanet:2390	"" []	217177	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Lichstenstein syndrome
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:2390	"" []	571882	\N	\N	EFO	2	EFO	Constitutional neutropenia	Lichstenstein syndrome
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:2390	"" []	1154179	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Lichstenstein syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:2390	"" []	2036812	\N	\N	EFO	4	EFO	Primary immunodeficiency	Lichstenstein syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:2390	"" []	3187161	\N	\N	EFO	5	EFO	Rare genetic immune disease	Lichstenstein syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2390	"" []	4394397	\N	\N	EFO	6	EFO	genetic disorder	Lichstenstein syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:2390	"" []	4394398	\N	\N	EFO	6	EFO	immune system disease	Lichstenstein syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2390	"" []	5412621	\N	\N	EFO	7	EFO	disease	Lichstenstein syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2390	"" []	5412622	\N	\N	EFO	7	EFO	disease	Lichstenstein syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2390	"" []	6149430	\N	\N	EFO	8	EFO	disposition	Lichstenstein syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2390	"" []	6632631	\N	\N	EFO	9	EFO	material property	Lichstenstein syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2390	"" []	6925590	\N	\N	EFO	10	EFO	experimental factor	Lichstenstein syndrome
Orphanet:2394	\N	\N	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	74925	\N	\N	EFO	0	EFO	Pyruvate dehydrogenase E3 deficiency	Pyruvate dehydrogenase E3 deficiency
Orphanet:206966	Orphanet:2394	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	217178	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Pyruvate dehydrogenase E3 deficiency
Orphanet:401854	Orphanet:2394	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	217179	\N	\N	EFO	1	EFO	Lipoic acid biosynthesis defect	Pyruvate dehydrogenase E3 deficiency
Orphanet:765	Orphanet:2394	\N	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	217180	\N	\N	EFO	1	EFO	Pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase E3 deficiency
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	571883	\N	\N	EFO	2	EFO	Muscular lipidosis	Pyruvate dehydrogenase E3 deficiency
Orphanet:68380	Orphanet:401854	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	571884	\N	\N	EFO	2	EFO	Mitochondrial disease	Pyruvate dehydrogenase E3 deficiency
Orphanet:182076	Orphanet:765	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	571885	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Pyruvate dehydrogenase E3 deficiency
Orphanet:225703	Orphanet:765	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	571886	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Pyruvate dehydrogenase E3 deficiency
Orphanet:254746	Orphanet:765	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	571887	\N	\N	EFO	2	EFO	Pyruvate metabolism disorder	Pyruvate dehydrogenase E3 deficiency
Orphanet:68380	Orphanet:765	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	571888	\N	\N	EFO	2	EFO	Mitochondrial disease	Pyruvate dehydrogenase E3 deficiency
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	1154180	\N	\N	EFO	3	EFO	Metabolic myopathy	Pyruvate dehydrogenase E3 deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	1154181	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Pyruvate dehydrogenase E3 deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	1154182	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase E3 deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	1154183	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Pyruvate dehydrogenase E3 deficiency
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	1154184	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Pyruvate dehydrogenase E3 deficiency
Orphanet:79200	Orphanet:254746	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	1154185	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase E3 deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	2036813	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Pyruvate dehydrogenase E3 deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	2036814	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pyruvate dehydrogenase E3 deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	2036815	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Pyruvate dehydrogenase E3 deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	2036816	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Pyruvate dehydrogenase E3 deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	2036817	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Pyruvate dehydrogenase E3 deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	3187162	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Pyruvate dehydrogenase E3 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	3187163	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate dehydrogenase E3 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	3187164	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate dehydrogenase E3 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	3187165	\N	\N	EFO	5	EFO	metabolic disease	Pyruvate dehydrogenase E3 deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	3187166	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Pyruvate dehydrogenase E3 deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	3187167	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Pyruvate dehydrogenase E3 deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	4394399	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Pyruvate dehydrogenase E3 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	6550878	\N	\N	EFO	9	EFO	disease	Pyruvate dehydrogenase E3 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	4394401	\N	\N	EFO	6	EFO	disease	Pyruvate dehydrogenase E3 deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	4394402	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase E3 deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	4394403	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase E3 deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	5412623	\N	\N	EFO	7	EFO	muscular disease	Pyruvate dehydrogenase E3 deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	5412624	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase E3 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	6807838	\N	\N	EFO	10	EFO	disposition	Pyruvate dehydrogenase E3 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	6149432	\N	\N	EFO	8	EFO	genetic disorder	Pyruvate dehydrogenase E3 deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	6149431	\N	\N	EFO	8	EFO	skeletal system disease	Pyruvate dehydrogenase E3 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	7048624	\N	\N	EFO	11	EFO	material property	Pyruvate dehydrogenase E3 deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	6632632	\N	\N	EFO	9	EFO	disease	Pyruvate dehydrogenase E3 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2394	"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." []	7190212	\N	\N	EFO	12	EFO	experimental factor	Pyruvate dehydrogenase E3 deficiency
Orphanet:2396	\N	\N	"" []	Orphanet:2396	"" []	74926	\N	\N	EFO	0	EFO	Encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous lipomatosis
Orphanet:183484	Orphanet:2396	\N	"" []	Orphanet:2396	"" []	217181	\N	\N	EFO	1	EFO	Genetic subcutaneous tissue disorder	Encephalocraniocutaneous lipomatosis
Orphanet:183487	Orphanet:2396	\N	"" []	Orphanet:2396	"" []	217182	\N	\N	EFO	1	EFO	Genetic skin tumor	Encephalocraniocutaneous lipomatosis
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:2396	"" []	571889	\N	\N	EFO	2	EFO	Rare genetic skin disease	Encephalocraniocutaneous lipomatosis
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:2396	"" []	571890	\N	\N	EFO	2	EFO	skin neoplasm	Encephalocraniocutaneous lipomatosis
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:2396	"" []	571891	\N	\N	EFO	2	EFO	Rare genetic tumor	Encephalocraniocutaneous lipomatosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2396	"" []	1154186	\N	\N	EFO	3	EFO	genetic disorder	Encephalocraniocutaneous lipomatosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2396	"" []	1154187	\N	\N	EFO	3	EFO	skin disease	Encephalocraniocutaneous lipomatosis
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2396	"" []	1154188	\N	\N	EFO	3	EFO	neoplasm	Encephalocraniocutaneous lipomatosis
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2396	"" []	1154189	\N	\N	EFO	3	EFO	skin disease	Encephalocraniocutaneous lipomatosis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2396	"" []	1154190	\N	\N	EFO	3	EFO	genetic disorder	Encephalocraniocutaneous lipomatosis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2396	"" []	1154191	\N	\N	EFO	3	EFO	neoplasm	Encephalocraniocutaneous lipomatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2396	"" []	2036818	\N	\N	EFO	4	EFO	disease	Encephalocraniocutaneous lipomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2396	"" []	2036819	\N	\N	EFO	4	EFO	disease	Encephalocraniocutaneous lipomatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2396	"" []	2036820	\N	\N	EFO	4	EFO	disease	Encephalocraniocutaneous lipomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2396	"" []	3187168	\N	\N	EFO	5	EFO	disposition	Encephalocraniocutaneous lipomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2396	"" []	4394404	\N	\N	EFO	6	EFO	material property	Encephalocraniocutaneous lipomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2396	"" []	5412627	\N	\N	EFO	7	EFO	experimental factor	Encephalocraniocutaneous lipomatosis
Orphanet:2398	\N	\N	"" []	Orphanet:2398	"" []	74927	\N	\N	EFO	0	EFO	Familial symmetric lipomatosis	Familial symmetric lipomatosis
Orphanet:183484	Orphanet:2398	\N	"" []	Orphanet:2398	"" []	217183	\N	\N	EFO	1	EFO	Genetic subcutaneous tissue disorder	Familial symmetric lipomatosis
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:2398	"" []	571892	\N	\N	EFO	2	EFO	Rare genetic skin disease	Familial symmetric lipomatosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2398	"" []	1154192	\N	\N	EFO	3	EFO	genetic disorder	Familial symmetric lipomatosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2398	"" []	1154193	\N	\N	EFO	3	EFO	skin disease	Familial symmetric lipomatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2398	"" []	2036821	\N	\N	EFO	4	EFO	disease	Familial symmetric lipomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2398	"" []	2036822	\N	\N	EFO	4	EFO	disease	Familial symmetric lipomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2398	"" []	3187169	\N	\N	EFO	5	EFO	disposition	Familial symmetric lipomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2398	"" []	4394405	\N	\N	EFO	6	EFO	material property	Familial symmetric lipomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2398	"" []	5412628	\N	\N	EFO	7	EFO	experimental factor	Familial symmetric lipomatosis
Orphanet:2399	\N	\N	"" []	Orphanet:2399	"" []	74928	\N	\N	EFO	0	EFO	Nasopalpebral lipoma - coloboma - telecanthus	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:108987	Orphanet:2399	\N	"" []	Orphanet:2399	"" []	217184	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:330206	Orphanet:2399	\N	"" []	Orphanet:2399	"" []	217185	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:98566	Orphanet:2399	\N	"" []	Orphanet:2399	"" []	217186	\N	\N	EFO	1	EFO	Syndromic palpebral coloboma	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2399	"" []	571893	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2399	"" []	571894	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:98564	Orphanet:98566	\N	"" []	Orphanet:2399	"" []	571895	\N	\N	EFO	2	EFO	Eyelid border anomaly	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2399	"" []	1154194	\N	\N	EFO	3	EFO	Rare genetic eye disease	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2399	"" []	1154195	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2399	"" []	1154196	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:2399	"" []	1154197	\N	\N	EFO	3	EFO	Eyelid malformation	Nasopalpebral lipoma - coloboma - telecanthus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2399	"" []	5412630	\N	\N	EFO	7	EFO	genetic disorder	Nasopalpebral lipoma - coloboma - telecanthus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2399	"" []	5412631	\N	\N	EFO	7	EFO	eye disease	Nasopalpebral lipoma - coloboma - telecanthus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2399	"" []	2036825	\N	\N	EFO	4	EFO	genetic disorder	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:2399	"" []	2036826	\N	\N	EFO	4	EFO	Rare palpebral disease	Nasopalpebral lipoma - coloboma - telecanthus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2399	"" []	5817593	\N	\N	EFO	8	EFO	disease	Nasopalpebral lipoma - coloboma - telecanthus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2399	"" []	5817594	\N	\N	EFO	8	EFO	disease	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2399	"" []	3187172	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Nasopalpebral lipoma - coloboma - telecanthus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2399	"" []	6409989	\N	\N	EFO	9	EFO	disposition	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2399	"" []	4394407	\N	\N	EFO	6	EFO	Rare genetic eye disease	Nasopalpebral lipoma - coloboma - telecanthus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2399	"" []	6807839	\N	\N	EFO	10	EFO	material property	Nasopalpebral lipoma - coloboma - telecanthus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2399	"" []	7048625	\N	\N	EFO	11	EFO	experimental factor	Nasopalpebral lipoma - coloboma - telecanthus
Orphanet:24	\N	\N	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	74929	\N	\N	EFO	0	EFO	Fumaric aciduria	Fumaric aciduria
Orphanet:225703	Orphanet:24	\N	"" []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	217187	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	Fumaric aciduria
Orphanet:254749	Orphanet:24	\N	"" []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	217188	\N	\N	EFO	1	EFO	Tricarboxylic acid cycle disorder	Fumaric aciduria
Orphanet:68385	Orphanet:24	\N	"" []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	217189	\N	\N	EFO	1	EFO	Neurometabolic disease	Fumaric aciduria
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	571896	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Fumaric aciduria
Orphanet:79200	Orphanet:254749	\N	"" []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	571897	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Fumaric aciduria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	571898	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Fumaric aciduria
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	1154198	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Fumaric aciduria
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	1154199	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Fumaric aciduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	4394408	\N	\N	EFO	6	EFO	genetic disorder	Fumaric aciduria
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	2036827	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Fumaric aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	2036828	\N	\N	EFO	4	EFO	genetic disorder	Fumaric aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	2036829	\N	\N	EFO	4	EFO	metabolic disease	Fumaric aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	5028421	\N	\N	EFO	7	EFO	disease	Fumaric aciduria
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	3187173	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Fumaric aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	3187175	\N	\N	EFO	5	EFO	disease	Fumaric aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	5817595	\N	\N	EFO	8	EFO	disposition	Fumaric aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	6409990	\N	\N	EFO	9	EFO	material property	Fumaric aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:24	"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." []	6807840	\N	\N	EFO	10	EFO	experimental factor	Fumaric aciduria
Orphanet:240	\N	\N	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	74930	\N	\N	EFO	0	EFO	Lri-Weill dyschondrosteosis	Lri-Weill dyschondrosteosis
Orphanet:93438	Orphanet:240	\N	"" []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	217190	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Lri-Weill dyschondrosteosis
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	571899	\N	\N	EFO	2	EFO	Primary bone dysplasia	Lri-Weill dyschondrosteosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	1154201	\N	\N	EFO	3	EFO	Rare genetic bone disease	Lri-Weill dyschondrosteosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	1154202	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Lri-Weill dyschondrosteosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	2036831	\N	\N	EFO	4	EFO	genetic disorder	Lri-Weill dyschondrosteosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	2036832	\N	\N	EFO	4	EFO	bone disease	Lri-Weill dyschondrosteosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	2036833	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lri-Weill dyschondrosteosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	4394412	\N	\N	EFO	6	EFO	disease	Lri-Weill dyschondrosteosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	3187178	\N	\N	EFO	5	EFO	skeletal system disease	Lri-Weill dyschondrosteosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	3187179	\N	\N	EFO	5	EFO	genetic disorder	Lri-Weill dyschondrosteosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	5182124	\N	\N	EFO	7	EFO	disposition	Lri-Weill dyschondrosteosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	4394411	\N	\N	EFO	6	EFO	disease	Lri-Weill dyschondrosteosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	5997493	\N	\N	EFO	8	EFO	material property	Lri-Weill dyschondrosteosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:240	"Lri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." []	6550879	\N	\N	EFO	9	EFO	experimental factor	Lri-Weill dyschondrosteosis
Orphanet:240071	\N	\N	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	74931	\N	\N	EFO	0	EFO	Classical progressive supranuclear palsy	Classical progressive supranuclear palsy
Orphanet:683	Orphanet:240071	\N	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	217191	\N	\N	EFO	1	EFO	Progressive supranuclear palsy	Classical progressive supranuclear palsy
EFO:0005815	Orphanet:683	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	571900	\N	\N	EFO	2	EFO	tauopathy	Classical progressive supranuclear palsy
Orphanet:276061	Orphanet:683	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	571901	\N	\N	EFO	2	EFO	Genetic frontotemporal degeneration with dementia	Classical progressive supranuclear palsy
Orphanet:306708	Orphanet:683	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	571902	\N	\N	EFO	2	EFO	Frontotemporal neurodegeneration with movement disorder	Classical progressive supranuclear palsy
Orphanet:98687	Orphanet:683	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	571903	\N	\N	EFO	2	EFO	Supranuclear oculomotor palsy	Classical progressive supranuclear palsy
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	1154203	\N	\N	EFO	3	EFO	neurodegenerative disease	Classical progressive supranuclear palsy
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	1154204	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease with dementia	Classical progressive supranuclear palsy
Orphanet:307058	Orphanet:306708	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	1154205	\N	\N	EFO	3	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Classical progressive supranuclear palsy
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	1154206	\N	\N	EFO	3	EFO	Oculomotor palsy	Classical progressive supranuclear palsy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	4394416	\N	\N	EFO	6	EFO	nervous system disease	Classical progressive supranuclear palsy
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	2036835	\N	\N	EFO	4	EFO	Genetic dementia	Classical progressive supranuclear palsy
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	2036836	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Classical progressive supranuclear palsy
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	2036837	\N	\N	EFO	4	EFO	neurodegenerative disease	Classical progressive supranuclear palsy
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	2036838	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Classical progressive supranuclear palsy
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	2036839	\N	\N	EFO	4	EFO	palsy	Classical progressive supranuclear palsy
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	2036840	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Classical progressive supranuclear palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	5059798	\N	\N	EFO	7	EFO	disease	Classical progressive supranuclear palsy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	3187181	\N	\N	EFO	5	EFO	brain disease	Classical progressive supranuclear palsy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	3187182	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Classical progressive supranuclear palsy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	3187183	\N	\N	EFO	5	EFO	neurodegenerative disease	Classical progressive supranuclear palsy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	3187184	\N	\N	EFO	5	EFO	brain disease	Classical progressive supranuclear palsy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	3187185	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Classical progressive supranuclear palsy
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	3187187	\N	\N	EFO	5	EFO	movement disorder	Classical progressive supranuclear palsy
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	3187188	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Classical progressive supranuclear palsy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	3187189	\N	\N	EFO	5	EFO	nervous system disease	Classical progressive supranuclear palsy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	3187190	\N	\N	EFO	5	EFO	Rare genetic eye disease	Classical progressive supranuclear palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	5877052	\N	\N	EFO	8	EFO	disposition	Classical progressive supranuclear palsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	4394414	\N	\N	EFO	6	EFO	nervous system disease	Classical progressive supranuclear palsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	4394415	\N	\N	EFO	6	EFO	genetic disorder	Classical progressive supranuclear palsy
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	4394417	\N	\N	EFO	6	EFO	nervous system disease	Classical progressive supranuclear palsy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	4394418	\N	\N	EFO	6	EFO	genetic disorder	Classical progressive supranuclear palsy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	4394419	\N	\N	EFO	6	EFO	eye disease	Classical progressive supranuclear palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	6470275	\N	\N	EFO	9	EFO	material property	Classical progressive supranuclear palsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	5412635	\N	\N	EFO	7	EFO	disease	Classical progressive supranuclear palsy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	5412636	\N	\N	EFO	7	EFO	disease	Classical progressive supranuclear palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:240071	"Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." []	6848439	\N	\N	EFO	10	EFO	experimental factor	Classical progressive supranuclear palsy
Orphanet:240085	\N	\N	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	74932	\N	\N	EFO	0	EFO	Progressive supranuclear palsy - parkinsonism	Progressive supranuclear palsy - parkinsonism
Orphanet:99750	Orphanet:240085	\N	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	217192	\N	\N	EFO	1	EFO	Atypical progressive supranuclear palsy	Progressive supranuclear palsy - parkinsonism
Orphanet:683	Orphanet:99750	\N	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	571904	\N	\N	EFO	2	EFO	Progressive supranuclear palsy	Progressive supranuclear palsy - parkinsonism
EFO:0005815	Orphanet:683	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	1154207	\N	\N	EFO	3	EFO	tauopathy	Progressive supranuclear palsy - parkinsonism
Orphanet:276061	Orphanet:683	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	1154208	\N	\N	EFO	3	EFO	Genetic frontotemporal degeneration with dementia	Progressive supranuclear palsy - parkinsonism
Orphanet:306708	Orphanet:683	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	1154209	\N	\N	EFO	3	EFO	Frontotemporal neurodegeneration with movement disorder	Progressive supranuclear palsy - parkinsonism
Orphanet:98687	Orphanet:683	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	1154210	\N	\N	EFO	3	EFO	Supranuclear oculomotor palsy	Progressive supranuclear palsy - parkinsonism
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	2036841	\N	\N	EFO	4	EFO	neurodegenerative disease	Progressive supranuclear palsy - parkinsonism
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	2036842	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Progressive supranuclear palsy - parkinsonism
Orphanet:307058	Orphanet:306708	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	2036843	\N	\N	EFO	4	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Progressive supranuclear palsy - parkinsonism
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	2036844	\N	\N	EFO	4	EFO	Oculomotor palsy	Progressive supranuclear palsy - parkinsonism
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412640	\N	\N	EFO	7	EFO	nervous system disease	Progressive supranuclear palsy - parkinsonism
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187192	\N	\N	EFO	5	EFO	Genetic dementia	Progressive supranuclear palsy - parkinsonism
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187193	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Progressive supranuclear palsy - parkinsonism
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187194	\N	\N	EFO	5	EFO	neurodegenerative disease	Progressive supranuclear palsy - parkinsonism
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187195	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Progressive supranuclear palsy - parkinsonism
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187196	\N	\N	EFO	5	EFO	palsy	Progressive supranuclear palsy - parkinsonism
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187197	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Progressive supranuclear palsy - parkinsonism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5877053	\N	\N	EFO	8	EFO	disease	Progressive supranuclear palsy - parkinsonism
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394421	\N	\N	EFO	6	EFO	brain disease	Progressive supranuclear palsy - parkinsonism
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394422	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy - parkinsonism
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394423	\N	\N	EFO	6	EFO	neurodegenerative disease	Progressive supranuclear palsy - parkinsonism
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394424	\N	\N	EFO	6	EFO	brain disease	Progressive supranuclear palsy - parkinsonism
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394425	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy - parkinsonism
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394427	\N	\N	EFO	6	EFO	movement disorder	Progressive supranuclear palsy - parkinsonism
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394428	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy - parkinsonism
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394429	\N	\N	EFO	6	EFO	nervous system disease	Progressive supranuclear palsy - parkinsonism
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394430	\N	\N	EFO	6	EFO	Rare genetic eye disease	Progressive supranuclear palsy - parkinsonism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	6470276	\N	\N	EFO	9	EFO	disposition	Progressive supranuclear palsy - parkinsonism
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412638	\N	\N	EFO	7	EFO	nervous system disease	Progressive supranuclear palsy - parkinsonism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412639	\N	\N	EFO	7	EFO	genetic disorder	Progressive supranuclear palsy - parkinsonism
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412641	\N	\N	EFO	7	EFO	nervous system disease	Progressive supranuclear palsy - parkinsonism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412642	\N	\N	EFO	7	EFO	genetic disorder	Progressive supranuclear palsy - parkinsonism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412643	\N	\N	EFO	7	EFO	eye disease	Progressive supranuclear palsy - parkinsonism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	6848440	\N	\N	EFO	10	EFO	material property	Progressive supranuclear palsy - parkinsonism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	6149439	\N	\N	EFO	8	EFO	disease	Progressive supranuclear palsy - parkinsonism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	6149440	\N	\N	EFO	8	EFO	disease	Progressive supranuclear palsy - parkinsonism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:240085	"PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	7068437	\N	\N	EFO	11	EFO	experimental factor	Progressive supranuclear palsy - parkinsonism
Orphanet:240094	\N	\N	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	74933	\N	\N	EFO	0	EFO	Progressive supranuclear palsy - pure akinesia with gait freezing	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:99750	Orphanet:240094	\N	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	217193	\N	\N	EFO	1	EFO	Atypical progressive supranuclear palsy	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:683	Orphanet:99750	\N	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	571905	\N	\N	EFO	2	EFO	Progressive supranuclear palsy	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0005815	Orphanet:683	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	1154211	\N	\N	EFO	3	EFO	tauopathy	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:276061	Orphanet:683	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	1154212	\N	\N	EFO	3	EFO	Genetic frontotemporal degeneration with dementia	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:306708	Orphanet:683	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	1154213	\N	\N	EFO	3	EFO	Frontotemporal neurodegeneration with movement disorder	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:98687	Orphanet:683	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	1154214	\N	\N	EFO	3	EFO	Supranuclear oculomotor palsy	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	2036845	\N	\N	EFO	4	EFO	neurodegenerative disease	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	2036846	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:307058	Orphanet:306708	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	2036847	\N	\N	EFO	4	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	2036848	\N	\N	EFO	4	EFO	Oculomotor palsy	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412647	\N	\N	EFO	7	EFO	nervous system disease	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187199	\N	\N	EFO	5	EFO	Genetic dementia	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187200	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187201	\N	\N	EFO	5	EFO	neurodegenerative disease	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187202	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187203	\N	\N	EFO	5	EFO	palsy	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187204	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5877054	\N	\N	EFO	8	EFO	disease	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394432	\N	\N	EFO	6	EFO	brain disease	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394433	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394434	\N	\N	EFO	6	EFO	neurodegenerative disease	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394435	\N	\N	EFO	6	EFO	brain disease	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394436	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394438	\N	\N	EFO	6	EFO	movement disorder	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394439	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394440	\N	\N	EFO	6	EFO	nervous system disease	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394441	\N	\N	EFO	6	EFO	Rare genetic eye disease	Progressive supranuclear palsy - pure akinesia with gait freezing
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	6470277	\N	\N	EFO	9	EFO	disposition	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412645	\N	\N	EFO	7	EFO	nervous system disease	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412646	\N	\N	EFO	7	EFO	genetic disorder	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412648	\N	\N	EFO	7	EFO	nervous system disease	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412649	\N	\N	EFO	7	EFO	genetic disorder	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412650	\N	\N	EFO	7	EFO	eye disease	Progressive supranuclear palsy - pure akinesia with gait freezing
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	6848441	\N	\N	EFO	10	EFO	material property	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	6149442	\N	\N	EFO	8	EFO	disease	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	6149443	\N	\N	EFO	8	EFO	disease	Progressive supranuclear palsy - pure akinesia with gait freezing
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:240094	"PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	7068438	\N	\N	EFO	11	EFO	experimental factor	Progressive supranuclear palsy - pure akinesia with gait freezing
Orphanet:240103	\N	\N	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	74934	\N	\N	EFO	0	EFO	Progressive supranuclear palsy - corticobasal syndrome	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:99750	Orphanet:240103	\N	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	217194	\N	\N	EFO	1	EFO	Atypical progressive supranuclear palsy	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:683	Orphanet:99750	\N	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	571906	\N	\N	EFO	2	EFO	Progressive supranuclear palsy	Progressive supranuclear palsy - corticobasal syndrome
EFO:0005815	Orphanet:683	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	1154215	\N	\N	EFO	3	EFO	tauopathy	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:276061	Orphanet:683	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	1154216	\N	\N	EFO	3	EFO	Genetic frontotemporal degeneration with dementia	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:306708	Orphanet:683	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	1154217	\N	\N	EFO	3	EFO	Frontotemporal neurodegeneration with movement disorder	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:98687	Orphanet:683	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	1154218	\N	\N	EFO	3	EFO	Supranuclear oculomotor palsy	Progressive supranuclear palsy - corticobasal syndrome
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	2036849	\N	\N	EFO	4	EFO	neurodegenerative disease	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	2036850	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:307058	Orphanet:306708	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	2036851	\N	\N	EFO	4	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	2036852	\N	\N	EFO	4	EFO	Oculomotor palsy	Progressive supranuclear palsy - corticobasal syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412654	\N	\N	EFO	7	EFO	nervous system disease	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187206	\N	\N	EFO	5	EFO	Genetic dementia	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187207	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Progressive supranuclear palsy - corticobasal syndrome
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187208	\N	\N	EFO	5	EFO	neurodegenerative disease	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187209	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Progressive supranuclear palsy - corticobasal syndrome
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187210	\N	\N	EFO	5	EFO	palsy	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	3187211	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Progressive supranuclear palsy - corticobasal syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5877055	\N	\N	EFO	8	EFO	disease	Progressive supranuclear palsy - corticobasal syndrome
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394443	\N	\N	EFO	6	EFO	brain disease	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394444	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy - corticobasal syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394445	\N	\N	EFO	6	EFO	neurodegenerative disease	Progressive supranuclear palsy - corticobasal syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394446	\N	\N	EFO	6	EFO	brain disease	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394447	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy - corticobasal syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394449	\N	\N	EFO	6	EFO	movement disorder	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394450	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy - corticobasal syndrome
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394451	\N	\N	EFO	6	EFO	nervous system disease	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	4394452	\N	\N	EFO	6	EFO	Rare genetic eye disease	Progressive supranuclear palsy - corticobasal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	6470278	\N	\N	EFO	9	EFO	disposition	Progressive supranuclear palsy - corticobasal syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412652	\N	\N	EFO	7	EFO	nervous system disease	Progressive supranuclear palsy - corticobasal syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412653	\N	\N	EFO	7	EFO	genetic disorder	Progressive supranuclear palsy - corticobasal syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412655	\N	\N	EFO	7	EFO	nervous system disease	Progressive supranuclear palsy - corticobasal syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412656	\N	\N	EFO	7	EFO	genetic disorder	Progressive supranuclear palsy - corticobasal syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	5412657	\N	\N	EFO	7	EFO	eye disease	Progressive supranuclear palsy - corticobasal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	6848442	\N	\N	EFO	10	EFO	material property	Progressive supranuclear palsy - corticobasal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	6149445	\N	\N	EFO	8	EFO	disease	Progressive supranuclear palsy - corticobasal syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	6149446	\N	\N	EFO	8	EFO	disease	Progressive supranuclear palsy - corticobasal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:240103	"PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." []	7068439	\N	\N	EFO	11	EFO	experimental factor	Progressive supranuclear palsy - corticobasal syndrome
Orphanet:240112	\N	\N	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	74935	\N	\N	EFO	0	EFO	Progressive supranuclear palsy - progressive non fluent aphasia	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:99750	Orphanet:240112	\N	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	217195	\N	\N	EFO	1	EFO	Atypical progressive supranuclear palsy	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:683	Orphanet:99750	\N	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	571907	\N	\N	EFO	2	EFO	Progressive supranuclear palsy	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0005815	Orphanet:683	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	1154219	\N	\N	EFO	3	EFO	tauopathy	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:276061	Orphanet:683	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	1154220	\N	\N	EFO	3	EFO	Genetic frontotemporal degeneration with dementia	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:306708	Orphanet:683	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	1154221	\N	\N	EFO	3	EFO	Frontotemporal neurodegeneration with movement disorder	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:98687	Orphanet:683	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	1154222	\N	\N	EFO	3	EFO	Supranuclear oculomotor palsy	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	2036853	\N	\N	EFO	4	EFO	neurodegenerative disease	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	2036854	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:307058	Orphanet:306708	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	2036855	\N	\N	EFO	4	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	2036856	\N	\N	EFO	4	EFO	Oculomotor palsy	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	5412661	\N	\N	EFO	7	EFO	nervous system disease	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	3187213	\N	\N	EFO	5	EFO	Genetic dementia	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	3187214	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	3187215	\N	\N	EFO	5	EFO	neurodegenerative disease	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	3187216	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	3187217	\N	\N	EFO	5	EFO	palsy	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	3187218	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	5877056	\N	\N	EFO	8	EFO	disease	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	4394454	\N	\N	EFO	6	EFO	brain disease	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	4394455	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	4394456	\N	\N	EFO	6	EFO	neurodegenerative disease	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	4394457	\N	\N	EFO	6	EFO	brain disease	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	4394458	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	4394460	\N	\N	EFO	6	EFO	movement disorder	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	4394461	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	4394462	\N	\N	EFO	6	EFO	nervous system disease	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	4394463	\N	\N	EFO	6	EFO	Rare genetic eye disease	Progressive supranuclear palsy - progressive non fluent aphasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	6470279	\N	\N	EFO	9	EFO	disposition	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	5412659	\N	\N	EFO	7	EFO	nervous system disease	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	5412660	\N	\N	EFO	7	EFO	genetic disorder	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	5412662	\N	\N	EFO	7	EFO	nervous system disease	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	5412663	\N	\N	EFO	7	EFO	genetic disorder	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	5412664	\N	\N	EFO	7	EFO	eye disease	Progressive supranuclear palsy - progressive non fluent aphasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	6848443	\N	\N	EFO	10	EFO	material property	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	6149448	\N	\N	EFO	8	EFO	disease	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	6149449	\N	\N	EFO	8	EFO	disease	Progressive supranuclear palsy - progressive non fluent aphasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:240112	"PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." []	7068440	\N	\N	EFO	11	EFO	experimental factor	Progressive supranuclear palsy - progressive non fluent aphasia
Orphanet:240371	\N	\N	"" []	Orphanet:240371	"" []	74936	\N	\N	EFO	0	EFO	Syndromic obesity	Syndromic obesity
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:240371	"" []	217196	\N	\N	EFO	1	EFO	Genetic obesity	Syndromic obesity
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:240371	"" []	571908	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Syndromic obesity
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:240371	"" []	571909	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Syndromic obesity
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240371	"" []	1154223	\N	\N	EFO	3	EFO	genetic disorder	Syndromic obesity
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:240371	"" []	1154224	\N	\N	EFO	3	EFO	endocrine system disease	Syndromic obesity
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:240371	"" []	1154225	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndromic obesity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240371	"" []	3187220	\N	\N	EFO	5	EFO	disease	Syndromic obesity
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240371	"" []	2036858	\N	\N	EFO	4	EFO	disease	Syndromic obesity
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240371	"" []	2036859	\N	\N	EFO	4	EFO	genetic disorder	Syndromic obesity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:240371	"" []	4133625	\N	\N	EFO	6	EFO	disposition	Syndromic obesity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:240371	"" []	5182130	\N	\N	EFO	7	EFO	material property	Syndromic obesity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:240371	"" []	5997499	\N	\N	EFO	8	EFO	experimental factor	Syndromic obesity
Orphanet:2405	\N	\N	"" []	Orphanet:2405	"" []	74937	\N	\N	EFO	0	EFO	Thickened earlobes - conductive deafness	Thickened earlobes - conductive deafness
Orphanet:90642	Orphanet:2405	\N	"" []	Orphanet:2405	"" []	217197	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Thickened earlobes - conductive deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2405	"" []	571910	\N	\N	EFO	2	EFO	Rare genetic deafness	Thickened earlobes - conductive deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2405	"" []	1154226	\N	\N	EFO	3	EFO	genetic disorder	Thickened earlobes - conductive deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2405	"" []	1154227	\N	\N	EFO	3	EFO	auditory system disease	Thickened earlobes - conductive deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2405	"" []	2036860	\N	\N	EFO	4	EFO	disease	Thickened earlobes - conductive deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2405	"" []	2036861	\N	\N	EFO	4	EFO	sensory system disease	Thickened earlobes - conductive deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2405	"" []	5412667	\N	\N	EFO	7	EFO	disposition	Thickened earlobes - conductive deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2405	"" []	3187222	\N	\N	EFO	5	EFO	nervous system disease	Thickened earlobes - conductive deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2405	"" []	5877057	\N	\N	EFO	8	EFO	material property	Thickened earlobes - conductive deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2405	"" []	4394466	\N	\N	EFO	6	EFO	disease	Thickened earlobes - conductive deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2405	"" []	6470280	\N	\N	EFO	9	EFO	experimental factor	Thickened earlobes - conductive deafness
Orphanet:2407	\N	\N	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	74938	\N	\N	EFO	0	EFO	LOC syndrome	LOC syndrome
Orphanet:108993	Orphanet:2407	\N	"" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	217198	\N	\N	EFO	1	EFO	Non-syndromic respiratory or mediastinal malformation	LOC syndrome
Orphanet:183622	Orphanet:2407	\N	"" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	217199	\N	\N	EFO	1	EFO	Genetic respiratory malformation	LOC syndrome
Orphanet:263676	Orphanet:2407	\N	"" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	217200	\N	\N	EFO	1	EFO	Hereditary epidermolysis bullosa associated with ocular features	LOC syndrome
Orphanet:305	Orphanet:2407	\N	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	217201	\N	\N	EFO	1	EFO	Junctional epidermolysis bullosa	LOC syndrome
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	571911	\N	\N	EFO	2	EFO	Genetic respiratory or mediastinal malformation	LOC syndrome
Orphanet:156610	Orphanet:183622	\N	"" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	571912	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	LOC syndrome
Orphanet:98696	Orphanet:263676	\N	"" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	571913	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	LOC syndrome
EFO:1000690	Orphanet:305	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	571914	\N	\N	EFO	2	EFO	epidermolysis bullosa	LOC syndrome
Orphanet:139027	Orphanet:305	\N	"" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	571915	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	LOC syndrome
Orphanet:79361	Orphanet:305	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	571916	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	LOC syndrome
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	1154228	\N	\N	EFO	3	EFO	respiratory system disease	LOC syndrome
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	1154229	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	LOC syndrome
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	1154230	\N	\N	EFO	3	EFO	genetic disorder	LOC syndrome
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	1154231	\N	\N	EFO	3	EFO	respiratory system disease	LOC syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	1154232	\N	\N	EFO	3	EFO	Rare genetic eye disease	LOC syndrome
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	1154233	\N	\N	EFO	3	EFO	vesiculobullous skin disease	LOC syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	1154234	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	LOC syndrome
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	1154235	\N	\N	EFO	3	EFO	Genetic epidermal disorder	LOC syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	2036862	\N	\N	EFO	4	EFO	disease	LOC syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	2036863	\N	\N	EFO	4	EFO	genetic disorder	LOC syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	4394468	\N	\N	EFO	6	EFO	disease	LOC syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	2036865	\N	\N	EFO	4	EFO	genetic disorder	LOC syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	2036866	\N	\N	EFO	4	EFO	eye disease	LOC syndrome
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	2036867	\N	\N	EFO	4	EFO	skin disease	LOC syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	2036868	\N	\N	EFO	4	EFO	Rare genetic skin disease	LOC syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	5059799	\N	\N	EFO	7	EFO	disposition	LOC syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	3187225	\N	\N	EFO	5	EFO	disease	LOC syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	4394469	\N	\N	EFO	6	EFO	disease	LOC syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	3187227	\N	\N	EFO	5	EFO	genetic disorder	LOC syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	3187228	\N	\N	EFO	5	EFO	skin disease	LOC syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	5877058	\N	\N	EFO	8	EFO	material property	LOC syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2407	"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." []	6470281	\N	\N	EFO	9	EFO	experimental factor	LOC syndrome
Orphanet:240760	\N	\N	"" []	Orphanet:240760	"" []	74939	\N	\N	EFO	0	EFO	Nijmegen breakage syndrome-like disorder	Nijmegen breakage syndrome-like disorder
Orphanet:169346	Orphanet:240760	\N	"" []	Orphanet:240760	"" []	217202	\N	\N	EFO	1	EFO	DNA repair defect other than combined T-cell and B-cell immunodeficiencies	Nijmegen breakage syndrome-like disorder
Orphanet:183422	Orphanet:240760	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:240760	"" []	217203	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Nijmegen breakage syndrome-like disorder
Orphanet:330206	Orphanet:240760	\N	"" []	Orphanet:240760	"" []	217204	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Nijmegen breakage syndrome-like disorder
Orphanet:331217	Orphanet:169346	\N	"" []	Orphanet:240760	"" []	571917	\N	\N	EFO	2	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Nijmegen breakage syndrome-like disorder
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:240760	"" []	571918	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Nijmegen breakage syndrome-like disorder
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:240760	"" []	571919	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Nijmegen breakage syndrome-like disorder
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:240760	"" []	1154236	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Nijmegen breakage syndrome-like disorder
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240760	"" []	1154237	\N	\N	EFO	3	EFO	genetic disorder	Nijmegen breakage syndrome-like disorder
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:240760	"" []	1154238	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Nijmegen breakage syndrome-like disorder
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:240760	"" []	2036869	\N	\N	EFO	4	EFO	Primary immunodeficiency	Nijmegen breakage syndrome-like disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240760	"" []	5412669	\N	\N	EFO	7	EFO	disease	Nijmegen breakage syndrome-like disorder
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240760	"" []	2036871	\N	\N	EFO	4	EFO	genetic disorder	Nijmegen breakage syndrome-like disorder
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:240760	"" []	3187229	\N	\N	EFO	5	EFO	Rare genetic immune disease	Nijmegen breakage syndrome-like disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:240760	"" []	5817596	\N	\N	EFO	8	EFO	disposition	Nijmegen breakage syndrome-like disorder
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:240760	"" []	4394470	\N	\N	EFO	6	EFO	genetic disorder	Nijmegen breakage syndrome-like disorder
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:240760	"" []	4394471	\N	\N	EFO	6	EFO	immune system disease	Nijmegen breakage syndrome-like disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:240760	"" []	6409991	\N	\N	EFO	9	EFO	material property	Nijmegen breakage syndrome-like disorder
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:240760	"" []	5412670	\N	\N	EFO	7	EFO	disease	Nijmegen breakage syndrome-like disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:240760	"" []	6807841	\N	\N	EFO	10	EFO	experimental factor	Nijmegen breakage syndrome-like disorder
Orphanet:2408	\N	\N	"" []	Orphanet:2408	"" []	74940	\N	\N	EFO	0	EFO	Lowe-Kohn-Cohen syndrome	Lowe-Kohn-Cohen syndrome
Orphanet:117573	Orphanet:2408	\N	"" []	Orphanet:2408	"" []	217205	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Lowe-Kohn-Cohen syndrome
Orphanet:90642	Orphanet:2408	\N	"" []	Orphanet:2408	"" []	217206	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Lowe-Kohn-Cohen syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:2408	"" []	571920	\N	\N	EFO	2	EFO	Anorectal malformation	Lowe-Kohn-Cohen syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2408	"" []	571921	\N	\N	EFO	2	EFO	Rare genetic deafness	Lowe-Kohn-Cohen syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:2408	"" []	1154239	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Lowe-Kohn-Cohen syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2408	"" []	1154240	\N	\N	EFO	3	EFO	genetic disorder	Lowe-Kohn-Cohen syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2408	"" []	1154241	\N	\N	EFO	3	EFO	auditory system disease	Lowe-Kohn-Cohen syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2408	"" []	2036872	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lowe-Kohn-Cohen syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2408	"" []	4394473	\N	\N	EFO	6	EFO	disease	Lowe-Kohn-Cohen syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2408	"" []	2036874	\N	\N	EFO	4	EFO	sensory system disease	Lowe-Kohn-Cohen syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2408	"" []	3187232	\N	\N	EFO	5	EFO	genetic disorder	Lowe-Kohn-Cohen syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2408	"" []	5059800	\N	\N	EFO	7	EFO	disposition	Lowe-Kohn-Cohen syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2408	"" []	3187234	\N	\N	EFO	5	EFO	nervous system disease	Lowe-Kohn-Cohen syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2408	"" []	5877059	\N	\N	EFO	8	EFO	material property	Lowe-Kohn-Cohen syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2408	"" []	4394475	\N	\N	EFO	6	EFO	disease	Lowe-Kohn-Cohen syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2408	"" []	6470282	\N	\N	EFO	9	EFO	experimental factor	Lowe-Kohn-Cohen syndrome
Orphanet:2409	\N	\N	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	74941	\N	\N	EFO	0	EFO	Lowry-MacLean syndrome	Lowry-MacLean syndrome
Orphanet:102283	Orphanet:2409	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	217207	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Lowry-MacLean syndrome
Orphanet:108987	Orphanet:2409	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	217208	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Lowry-MacLean syndrome
Orphanet:139393	Orphanet:2409	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	217209	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Lowry-MacLean syndrome
Orphanet:183763	Orphanet:2409	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	217210	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Lowry-MacLean syndrome
Orphanet:98638	Orphanet:2409	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	217211	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Lowry-MacLean syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	571922	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lowry-MacLean syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	571923	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Lowry-MacLean syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	571924	\N	\N	EFO	2	EFO	Craniosynostosis	Lowry-MacLean syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	571925	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Lowry-MacLean syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	571926	\N	\N	EFO	2	EFO	Rare genetic eye disease	Lowry-MacLean syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	1154242	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lowry-MacLean syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	1154243	\N	\N	EFO	3	EFO	Rare genetic eye disease	Lowry-MacLean syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	1154244	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lowry-MacLean syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	1154245	\N	\N	EFO	3	EFO	Genetic cranial malformation	Lowry-MacLean syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	1154246	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Lowry-MacLean syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	1154247	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Lowry-MacLean syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	2036876	\N	\N	EFO	4	EFO	genetic disorder	Lowry-MacLean syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	2036877	\N	\N	EFO	4	EFO	eye disease	Lowry-MacLean syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	4394477	\N	\N	EFO	6	EFO	genetic disorder	Lowry-MacLean syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	2036878	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lowry-MacLean syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	2036879	\N	\N	EFO	4	EFO	Rare genetic bone disease	Lowry-MacLean syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	2036880	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Lowry-MacLean syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	2036881	\N	\N	EFO	4	EFO	genetic disorder	Lowry-MacLean syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	5059801	\N	\N	EFO	7	EFO	disease	Lowry-MacLean syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	3000236	\N	\N	EFO	5	EFO	disease	Lowry-MacLean syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	3187236	\N	\N	EFO	5	EFO	genetic disorder	Lowry-MacLean syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	3187237	\N	\N	EFO	5	EFO	bone disease	Lowry-MacLean syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	3187238	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lowry-MacLean syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	5817597	\N	\N	EFO	8	EFO	disposition	Lowry-MacLean syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	4394476	\N	\N	EFO	6	EFO	skeletal system disease	Lowry-MacLean syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	6409992	\N	\N	EFO	9	EFO	material property	Lowry-MacLean syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	5412673	\N	\N	EFO	7	EFO	disease	Lowry-MacLean syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2409	"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." []	6807842	\N	\N	EFO	10	EFO	experimental factor	Lowry-MacLean syndrome
Orphanet:241	\N	\N	"" []	Orphanet:241	"" []	74942	\N	\N	EFO	0	EFO	Dyschromatosis universalis	Dyschromatosis universalis
Orphanet:183466	Orphanet:241	\N	"" []	Orphanet:241	"" []	217212	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Dyschromatosis universalis
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:241	"" []	571927	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Dyschromatosis universalis
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:241	"" []	1154250	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dyschromatosis universalis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:241	"" []	2036884	\N	\N	EFO	4	EFO	genetic disorder	Dyschromatosis universalis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:241	"" []	2036885	\N	\N	EFO	4	EFO	skin disease	Dyschromatosis universalis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:241	"" []	3187240	\N	\N	EFO	5	EFO	disease	Dyschromatosis universalis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:241	"" []	3187241	\N	\N	EFO	5	EFO	disease	Dyschromatosis universalis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:241	"" []	4394479	\N	\N	EFO	6	EFO	disposition	Dyschromatosis universalis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:241	"" []	5412675	\N	\N	EFO	7	EFO	material property	Dyschromatosis universalis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:241	"" []	6149450	\N	\N	EFO	8	EFO	experimental factor	Dyschromatosis universalis
Orphanet:2410	\N	\N	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	74943	\N	\N	EFO	0	EFO	Hypergonadotropic hypogonadism - cataract syndrome	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:108987	Orphanet:2410	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	217213	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:181441	Orphanet:2410	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	217214	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:98641	Orphanet:2410	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	217215	\N	\N	EFO	1	EFO	Syndromic cataract	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	571928	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	571929	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	571930	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	571931	\N	\N	EFO	2	EFO	Rare cataract	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	1154251	\N	\N	EFO	3	EFO	Rare genetic eye disease	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	1154252	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypergonadotropic hypogonadism - cataract syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	1154253	\N	\N	EFO	3	EFO	genetic disorder	Hypergonadotropic hypogonadism - cataract syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	1154254	\N	\N	EFO	3	EFO	endocrine system disease	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	1154255	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	1154256	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Hypergonadotropic hypogonadism - cataract syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	3187246	\N	\N	EFO	5	EFO	genetic disorder	Hypergonadotropic hypogonadism - cataract syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	3187247	\N	\N	EFO	5	EFO	eye disease	Hypergonadotropic hypogonadism - cataract syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	2036888	\N	\N	EFO	4	EFO	genetic disorder	Hypergonadotropic hypogonadism - cataract syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	5412677	\N	\N	EFO	7	EFO	disease	Hypergonadotropic hypogonadism - cataract syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	2036890	\N	\N	EFO	4	EFO	disease	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	2036891	\N	\N	EFO	4	EFO	Rare genetic male infertility	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	2036892	\N	\N	EFO	4	EFO	Rare genetic eye disease	Hypergonadotropic hypogonadism - cataract syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	4133631	\N	\N	EFO	6	EFO	disease	Hypergonadotropic hypogonadism - cataract syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	5817598	\N	\N	EFO	8	EFO	disposition	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	3187245	\N	\N	EFO	5	EFO	Genetic infertility	Hypergonadotropic hypogonadism - cataract syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	6409993	\N	\N	EFO	9	EFO	material property	Hypergonadotropic hypogonadism - cataract syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	4394481	\N	\N	EFO	6	EFO	genetic disorder	Hypergonadotropic hypogonadism - cataract syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	4394482	\N	\N	EFO	6	EFO	reproductive system disease	Hypergonadotropic hypogonadism - cataract syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	6807843	\N	\N	EFO	10	EFO	experimental factor	Hypergonadotropic hypogonadism - cataract syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2410	"This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." []	5412678	\N	\N	EFO	7	EFO	disease	Hypergonadotropic hypogonadism - cataract syndrome
Orphanet:2412	\N	\N	"" []	Orphanet:2412	"" []	74944	\N	\N	EFO	0	EFO	Dislocation of the hip - dysmorphism	Dislocation of the hip - dysmorphism
Orphanet:330206	Orphanet:2412	\N	"" []	Orphanet:2412	"" []	217216	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Dislocation of the hip - dysmorphism
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2412	"" []	571932	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Dislocation of the hip - dysmorphism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2412	"" []	1154257	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dislocation of the hip - dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2412	"" []	2036893	\N	\N	EFO	4	EFO	genetic disorder	Dislocation of the hip - dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2412	"" []	3187248	\N	\N	EFO	5	EFO	disease	Dislocation of the hip - dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2412	"" []	4394483	\N	\N	EFO	6	EFO	disposition	Dislocation of the hip - dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2412	"" []	5412679	\N	\N	EFO	7	EFO	material property	Dislocation of the hip - dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2412	"" []	6149451	\N	\N	EFO	8	EFO	experimental factor	Dislocation of the hip - dysmorphism
Orphanet:2414	\N	\N	"" []	Orphanet:2414	"" []	74945	\N	\N	EFO	0	EFO	Congenital pulmonary lymphangiectasia	Congenital pulmonary lymphangiectasia
Orphanet:108993	Orphanet:2414	\N	"" []	Orphanet:2414	"" []	217217	\N	\N	EFO	1	EFO	Non-syndromic respiratory or mediastinal malformation	Congenital pulmonary lymphangiectasia
Orphanet:264992	Orphanet:2414	\N	"" []	Orphanet:2414	"" []	217218	\N	\N	EFO	1	EFO	Genetic interstitial lung disease	Congenital pulmonary lymphangiectasia
Orphanet:89832	Orphanet:2414	\N	"" []	Orphanet:2414	"" []	217219	\N	\N	EFO	1	EFO	Syndromic lymphedema	Congenital pulmonary lymphangiectasia
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:2414	"" []	571933	\N	\N	EFO	2	EFO	Genetic respiratory or mediastinal malformation	Congenital pulmonary lymphangiectasia
Orphanet:156610	Orphanet:264992	\N	"" []	Orphanet:2414	"" []	571934	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Congenital pulmonary lymphangiectasia
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:2414	"" []	571935	\N	\N	EFO	2	EFO	Lymphedema	Congenital pulmonary lymphangiectasia
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2414	"" []	1154258	\N	\N	EFO	3	EFO	respiratory system disease	Congenital pulmonary lymphangiectasia
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:2414	"" []	1154259	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital pulmonary lymphangiectasia
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2414	"" []	1154260	\N	\N	EFO	3	EFO	genetic disorder	Congenital pulmonary lymphangiectasia
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2414	"" []	1154261	\N	\N	EFO	3	EFO	respiratory system disease	Congenital pulmonary lymphangiectasia
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:2414	"" []	1154262	\N	\N	EFO	3	EFO	Rare genetic skin disease	Congenital pulmonary lymphangiectasia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2414	"" []	2036894	\N	\N	EFO	4	EFO	disease	Congenital pulmonary lymphangiectasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2414	"" []	2036895	\N	\N	EFO	4	EFO	genetic disorder	Congenital pulmonary lymphangiectasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2414	"" []	3187250	\N	\N	EFO	5	EFO	disease	Congenital pulmonary lymphangiectasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2414	"" []	2036897	\N	\N	EFO	4	EFO	genetic disorder	Congenital pulmonary lymphangiectasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2414	"" []	2036898	\N	\N	EFO	4	EFO	skin disease	Congenital pulmonary lymphangiectasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2414	"" []	4133633	\N	\N	EFO	6	EFO	disposition	Congenital pulmonary lymphangiectasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2414	"" []	3187251	\N	\N	EFO	5	EFO	disease	Congenital pulmonary lymphangiectasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2414	"" []	5182135	\N	\N	EFO	7	EFO	material property	Congenital pulmonary lymphangiectasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2414	"" []	5997504	\N	\N	EFO	8	EFO	experimental factor	Congenital pulmonary lymphangiectasia
Orphanet:2416	\N	\N	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	74946	\N	\N	EFO	0	EFO	Congenital primary lymphedema	Congenital primary lymphedema
Orphanet:77240	Orphanet:2416	\N	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	217220	\N	\N	EFO	1	EFO	Primary lymphedema	Congenital primary lymphedema
Orphanet:98614	Orphanet:2416	\N	"" []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	217221	\N	\N	EFO	1	EFO	Conjunctival lymphangiectasia	Congenital primary lymphedema
Orphanet:79383	Orphanet:77240	\N	"" []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	571936	\N	\N	EFO	2	EFO	Lymphedema	Congenital primary lymphedema
Orphanet:98611	Orphanet:98614	\N	"" []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	571937	\N	\N	EFO	2	EFO	Conjunctival vascular anomaly	Congenital primary lymphedema
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	1154263	\N	\N	EFO	3	EFO	Rare genetic skin disease	Congenital primary lymphedema
Orphanet:98610	Orphanet:98611	\N	"" []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	1154264	\N	\N	EFO	3	EFO	Rare conjunctival disease	Congenital primary lymphedema
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	2036899	\N	\N	EFO	4	EFO	genetic disorder	Congenital primary lymphedema
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	2036900	\N	\N	EFO	4	EFO	skin disease	Congenital primary lymphedema
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	2036901	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital primary lymphedema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	5412682	\N	\N	EFO	7	EFO	disease	Congenital primary lymphedema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	3187253	\N	\N	EFO	5	EFO	disease	Congenital primary lymphedema
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	3187254	\N	\N	EFO	5	EFO	Rare genetic eye disease	Congenital primary lymphedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	5877062	\N	\N	EFO	8	EFO	disposition	Congenital primary lymphedema
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	4394486	\N	\N	EFO	6	EFO	genetic disorder	Congenital primary lymphedema
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	4394487	\N	\N	EFO	6	EFO	eye disease	Congenital primary lymphedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	6470285	\N	\N	EFO	9	EFO	material property	Congenital primary lymphedema
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	5412683	\N	\N	EFO	7	EFO	disease	Congenital primary lymphedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2416	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	6848444	\N	\N	EFO	10	EFO	experimental factor	Congenital primary lymphedema
Orphanet:242	\N	\N	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	74947	\N	\N	EFO	0	EFO	46,XY complete gonadal dysgenesis	46,XY complete gonadal dysgenesis
Orphanet:217595	Orphanet:242	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	217222	\N	\N	EFO	1	EFO	Syndrome associated with hypertrophic cardiomyopathy	46,XY complete gonadal dysgenesis
Orphanet:325118	Orphanet:242	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	217223	\N	\N	EFO	1	EFO	46,XY disorder of gonadal development	46,XY complete gonadal dysgenesis
Orphanet:89832	Orphanet:242	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	217224	\N	\N	EFO	1	EFO	Syndromic lymphedema	46,XY complete gonadal dysgenesis
Orphanet:98074	Orphanet:242	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	217225	\N	\N	EFO	1	EFO	Gonadal dysgenesis of gynecological interest	46,XY complete gonadal dysgenesis
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	571938	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	46,XY complete gonadal dysgenesis
Orphanet:325706	Orphanet:325118	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	571939	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	46,XY complete gonadal dysgenesis
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	571940	\N	\N	EFO	2	EFO	Lymphedema	46,XY complete gonadal dysgenesis
Orphanet:325665	Orphanet:98074	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	571941	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	46,XY complete gonadal dysgenesis
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	1154265	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	46,XY complete gonadal dysgenesis
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	1154266	\N	\N	EFO	3	EFO	Genetic disorder of sex development	46,XY complete gonadal dysgenesis
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	1154267	\N	\N	EFO	3	EFO	Rare genetic skin disease	46,XY complete gonadal dysgenesis
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	1154268	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	46,XY complete gonadal dysgenesis
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	2036902	\N	\N	EFO	4	EFO	genetic disorder	46,XY complete gonadal dysgenesis
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	2036903	\N	\N	EFO	4	EFO	heart disease	46,XY complete gonadal dysgenesis
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	2036904	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	46,XY complete gonadal dysgenesis
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	2036905	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	46,XY complete gonadal dysgenesis
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	2036906	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	46,XY complete gonadal dysgenesis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	2036907	\N	\N	EFO	4	EFO	genetic disorder	46,XY complete gonadal dysgenesis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	2036908	\N	\N	EFO	4	EFO	skin disease	46,XY complete gonadal dysgenesis
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	2036909	\N	\N	EFO	4	EFO	genetic disorder	46,XY complete gonadal dysgenesis
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	2036910	\N	\N	EFO	4	EFO	reproductive system disease	46,XY complete gonadal dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	4394490	\N	\N	EFO	6	EFO	disease	46,XY complete gonadal dysgenesis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	3187256	\N	\N	EFO	5	EFO	cardiovascular disease	46,XY complete gonadal dysgenesis
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	3187257	\N	\N	EFO	5	EFO	genetic disorder	46,XY complete gonadal dysgenesis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	3187258	\N	\N	EFO	5	EFO	genetic disorder	46,XY complete gonadal dysgenesis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	3187259	\N	\N	EFO	5	EFO	endocrine system disease	46,XY complete gonadal dysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	3187260	\N	\N	EFO	5	EFO	genetic disorder	46,XY complete gonadal dysgenesis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	3187261	\N	\N	EFO	5	EFO	disease	46,XY complete gonadal dysgenesis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	3187262	\N	\N	EFO	5	EFO	disease	46,XY complete gonadal dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	5182136	\N	\N	EFO	7	EFO	disposition	46,XY complete gonadal dysgenesis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	4394489	\N	\N	EFO	6	EFO	disease	46,XY complete gonadal dysgenesis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	4394491	\N	\N	EFO	6	EFO	disease	46,XY complete gonadal dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	5997505	\N	\N	EFO	8	EFO	material property	46,XY complete gonadal dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:242	"46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." []	6550885	\N	\N	EFO	9	EFO	experimental factor	46,XY complete gonadal dysgenesis
Orphanet:2427	\N	\N	"" []	Orphanet:2427	"" []	74948	\N	\N	EFO	0	EFO	Macrocephaly - short stature - paraplegia	Macrocephaly - short stature - paraplegia
Orphanet:102283	Orphanet:2427	\N	"" []	Orphanet:2427	"" []	217226	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Macrocephaly - short stature - paraplegia
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2427	"" []	571942	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Macrocephaly - short stature - paraplegia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2427	"" []	1154269	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Macrocephaly - short stature - paraplegia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2427	"" []	2036911	\N	\N	EFO	4	EFO	genetic disorder	Macrocephaly - short stature - paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2427	"" []	3187263	\N	\N	EFO	5	EFO	disease	Macrocephaly - short stature - paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2427	"" []	4394492	\N	\N	EFO	6	EFO	disposition	Macrocephaly - short stature - paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2427	"" []	5412685	\N	\N	EFO	7	EFO	material property	Macrocephaly - short stature - paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2427	"" []	6149454	\N	\N	EFO	8	EFO	experimental factor	Macrocephaly - short stature - paraplegia
Orphanet:2429	\N	\N	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	74949	\N	\N	EFO	0	EFO	Macrocephaly - spastic paraplegia - dysmorphism	Macrocephaly - spastic paraplegia - dysmorphism
Orphanet:102283	Orphanet:2429	\N	"" []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	217227	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Macrocephaly - spastic paraplegia - dysmorphism
Orphanet:183763	Orphanet:2429	\N	"" []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	217228	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Macrocephaly - spastic paraplegia - dysmorphism
Orphanet:320346	Orphanet:2429	\N	"" []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	217229	\N	\N	EFO	1	EFO	Pure or complex autosomal recessive spastic paraplegia	Macrocephaly - spastic paraplegia - dysmorphism
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	571943	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Macrocephaly - spastic paraplegia - dysmorphism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	571944	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Macrocephaly - spastic paraplegia - dysmorphism
Orphanet:320335	Orphanet:320346	\N	"" []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	571945	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Macrocephaly - spastic paraplegia - dysmorphism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	1154270	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Macrocephaly - spastic paraplegia - dysmorphism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	1154271	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Macrocephaly - spastic paraplegia - dysmorphism
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	1154272	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Macrocephaly - spastic paraplegia - dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	2036912	\N	\N	EFO	4	EFO	genetic disorder	Macrocephaly - spastic paraplegia - dysmorphism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	4394496	\N	\N	EFO	6	EFO	genetic disorder	Macrocephaly - spastic paraplegia - dysmorphism
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	2036914	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Macrocephaly - spastic paraplegia - dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	5059804	\N	\N	EFO	7	EFO	disease	Macrocephaly - spastic paraplegia - dysmorphism
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	3187265	\N	\N	EFO	5	EFO	neurodegenerative disease	Macrocephaly - spastic paraplegia - dysmorphism
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	3187266	\N	\N	EFO	5	EFO	brain disease	Macrocephaly - spastic paraplegia - dysmorphism
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	3187267	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Macrocephaly - spastic paraplegia - dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	5877063	\N	\N	EFO	8	EFO	disposition	Macrocephaly - spastic paraplegia - dysmorphism
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	4394494	\N	\N	EFO	6	EFO	nervous system disease	Macrocephaly - spastic paraplegia - dysmorphism
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	4394495	\N	\N	EFO	6	EFO	nervous system disease	Macrocephaly - spastic paraplegia - dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	6470286	\N	\N	EFO	9	EFO	material property	Macrocephaly - spastic paraplegia - dysmorphism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	5412687	\N	\N	EFO	7	EFO	disease	Macrocephaly - spastic paraplegia - dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2429	"Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." []	6848445	\N	\N	EFO	10	EFO	experimental factor	Macrocephaly - spastic paraplegia - dysmorphism
Orphanet:243	\N	\N	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	74950	\N	\N	EFO	0	EFO	46,XX gonadal dysgenesis	46,XX gonadal dysgenesis
Orphanet:325055	Orphanet:243	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	217230	\N	\N	EFO	1	EFO	46,XX disorder of gonadal development	46,XX gonadal dysgenesis
Orphanet:399877	Orphanet:243	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	217231	\N	\N	EFO	1	EFO	Female infertility due to gonadal dysgenesis	46,XX gonadal dysgenesis
Orphanet:95710	Orphanet:243	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	217232	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	46,XX gonadal dysgenesis
Orphanet:98074	Orphanet:243	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	217233	\N	\N	EFO	1	EFO	Gonadal dysgenesis of gynecological interest	46,XX gonadal dysgenesis
Orphanet:325697	Orphanet:325055	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	571946	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	46,XX gonadal dysgenesis
Orphanet:400008	Orphanet:399877	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	571947	\N	\N	EFO	2	EFO	Rare genetic female infertility	46,XX gonadal dysgenesis
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	571948	\N	\N	EFO	2	EFO	ovarian disease	46,XX gonadal dysgenesis
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	571949	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	46,XX gonadal dysgenesis
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	571950	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	46,XX gonadal dysgenesis
Orphanet:325665	Orphanet:98074	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	571951	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	46,XX gonadal dysgenesis
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	1154273	\N	\N	EFO	3	EFO	Genetic disorder of sex development	46,XX gonadal dysgenesis
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	1154274	\N	\N	EFO	3	EFO	Genetic infertility	46,XX gonadal dysgenesis
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	1154275	\N	\N	EFO	3	EFO	reproductive system disease	46,XX gonadal dysgenesis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	3187269	\N	\N	EFO	5	EFO	genetic disorder	46,XX gonadal dysgenesis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	3187270	\N	\N	EFO	5	EFO	endocrine system disease	46,XX gonadal dysgenesis
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	1154278	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	46,XX gonadal dysgenesis
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	1154279	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	46,XX gonadal dysgenesis
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	2036915	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	46,XX gonadal dysgenesis
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	2036916	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	46,XX gonadal dysgenesis
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	2036917	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	46,XX gonadal dysgenesis
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	2036918	\N	\N	EFO	4	EFO	genetic disorder	46,XX gonadal dysgenesis
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	2036919	\N	\N	EFO	4	EFO	reproductive system disease	46,XX gonadal dysgenesis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	3187273	\N	\N	EFO	5	EFO	disease	46,XX gonadal dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	4066891	\N	\N	EFO	6	EFO	disease	46,XX gonadal dysgenesis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	4066892	\N	\N	EFO	6	EFO	disease	46,XX gonadal dysgenesis
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	2036923	\N	\N	EFO	4	EFO	genetic disorder	46,XX gonadal dysgenesis
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	2036924	\N	\N	EFO	4	EFO	reproductive system disease	46,XX gonadal dysgenesis
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	3187268	\N	\N	EFO	5	EFO	genetic disorder	46,XX gonadal dysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	3187271	\N	\N	EFO	5	EFO	genetic disorder	46,XX gonadal dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	5059805	\N	\N	EFO	7	EFO	disposition	46,XX gonadal dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	5877064	\N	\N	EFO	8	EFO	material property	46,XX gonadal dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:243	"46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." []	6470287	\N	\N	EFO	9	EFO	experimental factor	46,XX gonadal dysgenesis
Orphanet:2430	\N	\N	"" []	Orphanet:2430	"" []	74951	\N	\N	EFO	0	EFO	Congenital macroglossia	Congenital macroglossia
Orphanet:156207	Orphanet:2430	\N	"" []	Orphanet:2430	"" []	217234	\N	\N	EFO	1	EFO	Macroglossia	Congenital macroglossia
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:2430	"" []	571952	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Congenital macroglossia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2430	"" []	1154280	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital macroglossia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2430	"" []	2036925	\N	\N	EFO	4	EFO	genetic disorder	Congenital macroglossia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2430	"" []	3187275	\N	\N	EFO	5	EFO	disease	Congenital macroglossia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2430	"" []	4394498	\N	\N	EFO	6	EFO	disposition	Congenital macroglossia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2430	"" []	5412689	\N	\N	EFO	7	EFO	material property	Congenital macroglossia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2430	"" []	6149456	\N	\N	EFO	8	EFO	experimental factor	Congenital macroglossia
Orphanet:2431	\N	\N	"" []	Orphanet:2431	"" []	74952	\N	\N	EFO	0	EFO	Central bilateral macrogyria	Central bilateral macrogyria
Orphanet:268950	Orphanet:2431	\N	"" []	Orphanet:2431	"" []	217235	\N	\N	EFO	1	EFO	Cerebral cortical dysplasia	Central bilateral macrogyria
Orphanet:163209	Orphanet:268950	\N	"" []	Orphanet:2431	"" []	571953	\N	\N	EFO	2	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Central bilateral macrogyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:2431	"" []	1154281	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Central bilateral macrogyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:2431	"" []	1154282	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Central bilateral macrogyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:2431	"" []	2036926	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Central bilateral macrogyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:2431	"" []	2036927	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Central bilateral macrogyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2431	"" []	3187276	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Central bilateral macrogyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2431	"" []	3187277	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Central bilateral macrogyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2431	"" []	5412692	\N	\N	EFO	7	EFO	genetic disorder	Central bilateral macrogyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2431	"" []	4394500	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Central bilateral macrogyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2431	"" []	4394501	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Central bilateral macrogyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2431	"" []	5997507	\N	\N	EFO	8	EFO	disease	Central bilateral macrogyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2431	"" []	5412691	\N	\N	EFO	7	EFO	genetic disorder	Central bilateral macrogyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2431	"" []	6550886	\N	\N	EFO	9	EFO	disposition	Central bilateral macrogyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2431	"" []	6889163	\N	\N	EFO	10	EFO	material property	Central bilateral macrogyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2431	"" []	7085918	\N	\N	EFO	11	EFO	experimental factor	Central bilateral macrogyria
Orphanet:2432	\N	\N	"" []	Orphanet:2432	"" []	74953	\N	\N	EFO	0	EFO	Macrosomia - microphthalmia - cleft palate	Macrosomia - microphthalmia - cleft palate
Orphanet:139039	Orphanet:2432	\N	"" []	Orphanet:2432	"" []	217236	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Macrosomia - microphthalmia - cleft palate
Orphanet:330206	Orphanet:2432	\N	"" []	Orphanet:2432	"" []	217237	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Macrosomia - microphthalmia - cleft palate
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2432	"" []	571954	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Macrosomia - microphthalmia - cleft palate
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2432	"" []	571955	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Macrosomia - microphthalmia - cleft palate
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2432	"" []	1154283	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Macrosomia - microphthalmia - cleft palate
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2432	"" []	1154284	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Macrosomia - microphthalmia - cleft palate
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2432	"" []	2036928	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Macrosomia - microphthalmia - cleft palate
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2432	"" []	4394502	\N	\N	EFO	6	EFO	genetic disorder	Macrosomia - microphthalmia - cleft palate
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2432	"" []	3187278	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Macrosomia - microphthalmia - cleft palate
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2432	"" []	5059806	\N	\N	EFO	7	EFO	disease	Macrosomia - microphthalmia - cleft palate
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2432	"" []	5877065	\N	\N	EFO	8	EFO	disposition	Macrosomia - microphthalmia - cleft palate
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2432	"" []	6470288	\N	\N	EFO	9	EFO	material property	Macrosomia - microphthalmia - cleft palate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2432	"" []	6848446	\N	\N	EFO	10	EFO	experimental factor	Macrosomia - microphthalmia - cleft palate
Orphanet:243343	\N	\N	"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." []	Orphanet:243343	"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." []	74954	\N	\N	EFO	0	EFO	Dimethylglycine dehydrogenase deficiency	Dimethylglycine dehydrogenase deficiency
Orphanet:79194	Orphanet:243343	\N	"" []	Orphanet:243343	"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." []	217238	\N	\N	EFO	1	EFO	Disorder of serine or glycine metabolism	Dimethylglycine dehydrogenase deficiency
Orphanet:79062	Orphanet:79194	\N	"" []	Orphanet:243343	"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." []	571956	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Dimethylglycine dehydrogenase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:243343	"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." []	1154285	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Dimethylglycine dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:243343	"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." []	2036930	\N	\N	EFO	4	EFO	genetic disorder	Dimethylglycine dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:243343	"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." []	2036931	\N	\N	EFO	4	EFO	metabolic disease	Dimethylglycine dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:243343	"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." []	3187280	\N	\N	EFO	5	EFO	disease	Dimethylglycine dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:243343	"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." []	3187281	\N	\N	EFO	5	EFO	disease	Dimethylglycine dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:243343	"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." []	4394504	\N	\N	EFO	6	EFO	disposition	Dimethylglycine dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:243343	"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." []	5412694	\N	\N	EFO	7	EFO	material property	Dimethylglycine dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:243343	"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." []	6149459	\N	\N	EFO	8	EFO	experimental factor	Dimethylglycine dehydrogenase deficiency
Orphanet:2435	\N	\N	"" []	Orphanet:2435	"" []	74955	\N	\N	EFO	0	EFO	Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability	Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability
Orphanet:183463	Orphanet:2435	\N	"" []	Orphanet:2435	"" []	217239	\N	\N	EFO	1	EFO	Genetic pigmentation anomaly of the skin	Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:2435	"" []	571957	\N	\N	EFO	2	EFO	Rare genetic skin disease	Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2435	"" []	1154286	\N	\N	EFO	3	EFO	genetic disorder	Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2435	"" []	1154287	\N	\N	EFO	3	EFO	skin disease	Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2435	"" []	2036932	\N	\N	EFO	4	EFO	disease	Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2435	"" []	2036933	\N	\N	EFO	4	EFO	disease	Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2435	"" []	3187282	\N	\N	EFO	5	EFO	disposition	Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2435	"" []	4394505	\N	\N	EFO	6	EFO	material property	Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2435	"" []	5412695	\N	\N	EFO	7	EFO	experimental factor	Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability
Orphanet:2437	\N	\N	"" []	Orphanet:2437	"" []	74956	\N	\N	EFO	0	EFO	Split hand - urinary anomalies - spina bifida	Split hand - urinary anomalies - spina bifida
Orphanet:165707	Orphanet:2437	\N	"" []	Orphanet:2437	"" []	217240	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Split hand - urinary anomalies - spina bifida
Orphanet:183763	Orphanet:2437	\N	"" []	Orphanet:2437	"" []	217241	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Split hand - urinary anomalies - spina bifida
Orphanet:330206	Orphanet:2437	\N	"" []	Orphanet:2437	"" []	217242	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Split hand - urinary anomalies - spina bifida
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2437	"" []	571958	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Split hand - urinary anomalies - spina bifida
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2437	"" []	571959	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Split hand - urinary anomalies - spina bifida
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2437	"" []	571960	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Split hand - urinary anomalies - spina bifida
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2437	"" []	1154288	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Split hand - urinary anomalies - spina bifida
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2437	"" []	1154289	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Split hand - urinary anomalies - spina bifida
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2437	"" []	1154290	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Split hand - urinary anomalies - spina bifida
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2437	"" []	2036934	\N	\N	EFO	4	EFO	genetic disorder	Split hand - urinary anomalies - spina bifida
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2437	"" []	2036935	\N	\N	EFO	4	EFO	genetic disorder	Split hand - urinary anomalies - spina bifida
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2437	"" []	2036936	\N	\N	EFO	4	EFO	genetic disorder	Split hand - urinary anomalies - spina bifida
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2437	"" []	3187283	\N	\N	EFO	5	EFO	disease	Split hand - urinary anomalies - spina bifida
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2437	"" []	4394506	\N	\N	EFO	6	EFO	disposition	Split hand - urinary anomalies - spina bifida
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2437	"" []	5412696	\N	\N	EFO	7	EFO	material property	Split hand - urinary anomalies - spina bifida
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2437	"" []	6149460	\N	\N	EFO	8	EFO	experimental factor	Split hand - urinary anomalies - spina bifida
Orphanet:2438	\N	\N	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	74957	\N	\N	EFO	0	EFO	Hand-foot-genital syndrome	Hand-foot-genital syndrome
Orphanet:330206	Orphanet:2438	\N	"" []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	217243	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Hand-foot-genital syndrome
Orphanet:69028	Orphanet:2438	\N	"" []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	217244	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Hand-foot-genital syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	571961	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hand-foot-genital syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	571962	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Hand-foot-genital syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	571963	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Hand-foot-genital syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	1154291	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hand-foot-genital syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	1154292	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Hand-foot-genital syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	1154293	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Hand-foot-genital syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	4394509	\N	\N	EFO	6	EFO	genetic disorder	Hand-foot-genital syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	2036938	\N	\N	EFO	4	EFO	Rare genetic bone disease	Hand-foot-genital syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	2036939	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Hand-foot-genital syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	2036940	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hand-foot-genital syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	5059807	\N	\N	EFO	7	EFO	disease	Hand-foot-genital syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	3187285	\N	\N	EFO	5	EFO	genetic disorder	Hand-foot-genital syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	3187286	\N	\N	EFO	5	EFO	bone disease	Hand-foot-genital syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	3187287	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hand-foot-genital syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	5877066	\N	\N	EFO	8	EFO	disposition	Hand-foot-genital syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	4394508	\N	\N	EFO	6	EFO	skeletal system disease	Hand-foot-genital syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	6470289	\N	\N	EFO	9	EFO	material property	Hand-foot-genital syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	5412698	\N	\N	EFO	7	EFO	disease	Hand-foot-genital syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2438	"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." []	6848447	\N	\N	EFO	10	EFO	experimental factor	Hand-foot-genital syndrome
Orphanet:2439	\N	\N	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	74958	\N	\N	EFO	0	EFO	Patterson-Stevenson-Fontaine syndrome	Patterson-Stevenson-Fontaine syndrome
Orphanet:183576	Orphanet:2439	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	217245	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Patterson-Stevenson-Fontaine syndrome
Orphanet:364574	Orphanet:2439	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	217246	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Patterson-Stevenson-Fontaine syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	571964	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Patterson-Stevenson-Fontaine syndrome
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	571965	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Patterson-Stevenson-Fontaine syndrome
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	571966	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Patterson-Stevenson-Fontaine syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	5412701	\N	\N	EFO	7	EFO	genetic disorder	Patterson-Stevenson-Fontaine syndrome
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	1154295	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Patterson-Stevenson-Fontaine syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	1154296	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Patterson-Stevenson-Fontaine syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	1154297	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Patterson-Stevenson-Fontaine syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	5801857	\N	\N	EFO	8	EFO	disease	Patterson-Stevenson-Fontaine syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	2036942	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Patterson-Stevenson-Fontaine syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	2036943	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Patterson-Stevenson-Fontaine syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	6378875	\N	\N	EFO	9	EFO	disposition	Patterson-Stevenson-Fontaine syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	3187290	\N	\N	EFO	5	EFO	Rare genetic bone disease	Patterson-Stevenson-Fontaine syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	3187291	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Patterson-Stevenson-Fontaine syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	3187292	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Patterson-Stevenson-Fontaine syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	6778671	\N	\N	EFO	10	EFO	material property	Patterson-Stevenson-Fontaine syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	4394511	\N	\N	EFO	6	EFO	genetic disorder	Patterson-Stevenson-Fontaine syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	4394512	\N	\N	EFO	6	EFO	bone disease	Patterson-Stevenson-Fontaine syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	4394513	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Patterson-Stevenson-Fontaine syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	7029875	\N	\N	EFO	11	EFO	experimental factor	Patterson-Stevenson-Fontaine syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	5412700	\N	\N	EFO	7	EFO	skeletal system disease	Patterson-Stevenson-Fontaine syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2439	"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." []	6149462	\N	\N	EFO	8	EFO	disease	Patterson-Stevenson-Fontaine syndrome
Orphanet:244	\N	\N	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	74959	\N	\N	EFO	0	EFO	Primary ciliary dyskinesia	Primary ciliary dyskinesia
EFO:0003900	Orphanet:244	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	217247	\N	\N	EFO	1	EFO	ciliopathy	Primary ciliary dyskinesia
Orphanet:156610	Orphanet:244	\N	"" []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	217248	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Primary ciliary dyskinesia
Orphanet:399813	Orphanet:244	\N	"" []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	217249	\N	\N	EFO	1	EFO	Male infertility due to sperm motility disorder	Primary ciliary dyskinesia
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	571967	\N	\N	EFO	2	EFO	genetic disorder	Primary ciliary dyskinesia
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	571968	\N	\N	EFO	2	EFO	genetic disorder	Primary ciliary dyskinesia
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	571969	\N	\N	EFO	2	EFO	respiratory system disease	Primary ciliary dyskinesia
Orphanet:399771	Orphanet:399813	\N	"" []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	571970	\N	\N	EFO	2	EFO	Male infertility due to sperm disorder	Primary ciliary dyskinesia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	5412702	\N	\N	EFO	7	EFO	disease	Primary ciliary dyskinesia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	1154299	\N	\N	EFO	3	EFO	disease	Primary ciliary dyskinesia
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	1154300	\N	\N	EFO	3	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Primary ciliary dyskinesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	5801858	\N	\N	EFO	8	EFO	disposition	Primary ciliary dyskinesia
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	2036945	\N	\N	EFO	4	EFO	Rare genetic male infertility	Primary ciliary dyskinesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	6378876	\N	\N	EFO	9	EFO	material property	Primary ciliary dyskinesia
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	3187294	\N	\N	EFO	5	EFO	Genetic infertility	Primary ciliary dyskinesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	6778672	\N	\N	EFO	10	EFO	experimental factor	Primary ciliary dyskinesia
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	4394516	\N	\N	EFO	6	EFO	genetic disorder	Primary ciliary dyskinesia
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	4394517	\N	\N	EFO	6	EFO	reproductive system disease	Primary ciliary dyskinesia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:244	"Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." []	5412703	\N	\N	EFO	7	EFO	disease	Primary ciliary dyskinesia
Orphanet:2440	\N	\N	"" []	Orphanet:2440	"" []	74960	\N	\N	EFO	0	EFO	Split hand-split foot malformation	Split hand-split foot malformation
Orphanet:294935	Orphanet:2440	\N	"" []	Orphanet:2440	"" []	217250	\N	\N	EFO	1	EFO	Split hand or/and split foot malformation	Split hand-split foot malformation
Orphanet:294929	Orphanet:294935	\N	"" []	Orphanet:2440	"" []	571971	\N	\N	EFO	2	EFO	Terminal limb defects	Split hand-split foot malformation
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:2440	"" []	1154301	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Split hand-split foot malformation
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:2440	"" []	2036946	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Split hand-split foot malformation
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:2440	"" []	2036947	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Split hand-split foot malformation
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:2440	"" []	3187295	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Split hand-split foot malformation
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2440	"" []	3187296	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Split hand-split foot malformation
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2440	"" []	4394518	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Split hand-split foot malformation
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2440	"" []	4394519	\N	\N	EFO	6	EFO	Rare genetic bone disease	Split hand-split foot malformation
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2440	"" []	4394520	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Split hand-split foot malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2440	"" []	6149465	\N	\N	EFO	8	EFO	genetic disorder	Split hand-split foot malformation
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2440	"" []	5412705	\N	\N	EFO	7	EFO	genetic disorder	Split hand-split foot malformation
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2440	"" []	5412706	\N	\N	EFO	7	EFO	bone disease	Split hand-split foot malformation
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2440	"" []	5412707	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Split hand-split foot malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2440	"" []	6550888	\N	\N	EFO	9	EFO	disease	Split hand-split foot malformation
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2440	"" []	6149464	\N	\N	EFO	8	EFO	skeletal system disease	Split hand-split foot malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2440	"" []	6889164	\N	\N	EFO	10	EFO	disposition	Split hand-split foot malformation
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2440	"" []	6632640	\N	\N	EFO	9	EFO	disease	Split hand-split foot malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2440	"" []	7085919	\N	\N	EFO	11	EFO	material property	Split hand-split foot malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2440	"" []	7204339	\N	\N	EFO	12	EFO	experimental factor	Split hand-split foot malformation
Orphanet:2442	\N	\N	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	74961	\N	\N	EFO	0	EFO	X-linked lymphoproliferative disease	X-linked lymphoproliferative disease
Orphanet:158038	Orphanet:2442	\N	"" []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	217251	\N	\N	EFO	1	EFO	Primary hemophagocytic lymphohistiocytosis	X-linked lymphoproliferative disease
Orphanet:238510	Orphanet:2442	\N	"" []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	217252	\N	\N	EFO	1	EFO	Lymphoproliferative syndrome	X-linked lymphoproliferative disease
Orphanet:169361	Orphanet:158038	\N	"" []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	571972	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	X-linked lymphoproliferative disease
EFO:0005803	Orphanet:238510	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	571973	\N	\N	EFO	2	EFO	hematological system disease	X-linked lymphoproliferative disease
Orphanet:140162	Orphanet:238510	\N	"" []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	571974	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	X-linked lymphoproliferative disease
Orphanet:169361	Orphanet:238510	\N	"" []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	571975	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	X-linked lymphoproliferative disease
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	1154302	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	X-linked lymphoproliferative disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	1154303	\N	\N	EFO	3	EFO	disease	X-linked lymphoproliferative disease
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	1154304	\N	\N	EFO	3	EFO	genetic disorder	X-linked lymphoproliferative disease
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	2036948	\N	\N	EFO	4	EFO	Primary immunodeficiency	X-linked lymphoproliferative disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	5817600	\N	\N	EFO	8	EFO	disposition	X-linked lymphoproliferative disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	5412708	\N	\N	EFO	7	EFO	disease	X-linked lymphoproliferative disease
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	3187297	\N	\N	EFO	5	EFO	Rare genetic immune disease	X-linked lymphoproliferative disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	6378877	\N	\N	EFO	9	EFO	material property	X-linked lymphoproliferative disease
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	4394521	\N	\N	EFO	6	EFO	genetic disorder	X-linked lymphoproliferative disease
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	4394522	\N	\N	EFO	6	EFO	immune system disease	X-linked lymphoproliferative disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	6778673	\N	\N	EFO	10	EFO	experimental factor	X-linked lymphoproliferative disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2442	"X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." []	5412709	\N	\N	EFO	7	EFO	disease	X-linked lymphoproliferative disease
Orphanet:2443	\N	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	74962	\N	\N	EFO	0	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	217253	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	571976	\N	\N	EFO	2	EFO	Mitochondrial disease	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	1154305	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	1154306	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	2036951	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	2036952	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	3187300	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	3187301	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	3187302	\N	\N	EFO	5	EFO	metabolic disease	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	4394524	\N	\N	EFO	6	EFO	disease	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	4394525	\N	\N	EFO	6	EFO	disease	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	5412710	\N	\N	EFO	7	EFO	disposition	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	6149466	\N	\N	EFO	8	EFO	material property	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2443	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	6632641	\N	\N	EFO	9	EFO	experimental factor	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Orphanet:244305	\N	\N	"" []	Orphanet:244305	"" []	74963	\N	\N	EFO	0	EFO	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Orphanet:183592	Orphanet:244305	\N	"" []	Orphanet:244305	"" []	217254	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Orphanet:93447	Orphanet:244305	\N	"" []	Orphanet:244305	"" []	217255	\N	\N	EFO	1	EFO	Primary bone dysplasia with defective bone mineralization	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:244305	"" []	571977	\N	\N	EFO	2	EFO	Rare genetic renal disease	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:244305	"" []	571978	\N	\N	EFO	2	EFO	Primary bone dysplasia	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:244305	"" []	1154307	\N	\N	EFO	3	EFO	genetic disorder	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:244305	"" []	1154308	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:244305	"" []	1154309	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:244305	"" []	4394528	\N	\N	EFO	6	EFO	disease	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:244305	"" []	2036954	\N	\N	EFO	4	EFO	genetic disorder	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:244305	"" []	2036955	\N	\N	EFO	4	EFO	bone disease	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:244305	"" []	2036956	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:244305	"" []	5059808	\N	\N	EFO	7	EFO	disposition	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:244305	"" []	3187305	\N	\N	EFO	5	EFO	skeletal system disease	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:244305	"" []	3187306	\N	\N	EFO	5	EFO	genetic disorder	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:244305	"" []	5877067	\N	\N	EFO	8	EFO	material property	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:244305	"" []	4394527	\N	\N	EFO	6	EFO	disease	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:244305	"" []	6470290	\N	\N	EFO	9	EFO	experimental factor	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Orphanet:244310	\N	\N	"" []	Orphanet:244310	"" []	74964	\N	\N	EFO	0	EFO	RFT1-CDG	RFT1-CDG
Orphanet:309347	Orphanet:244310	\N	"" []	Orphanet:244310	"" []	217256	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	RFT1-CDG
Orphanet:371064	Orphanet:244310	\N	"" []	Orphanet:244310	"" []	217257	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	RFT1-CDG
Orphanet:371071	Orphanet:244310	\N	"" []	Orphanet:244310	"" []	217258	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	RFT1-CDG
Orphanet:371157	Orphanet:244310	\N	"" []	Orphanet:244310	"" []	217259	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	RFT1-CDG
Orphanet:371212	Orphanet:244310	\N	"" []	Orphanet:244310	"" []	217260	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with deafness as a major feature	RFT1-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:244310	"" []	571979	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	RFT1-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:244310	"" []	571980	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	RFT1-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:244310	"" []	571981	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	RFT1-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:244310	"" []	571982	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	RFT1-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:244310	"" []	571983	\N	\N	EFO	2	EFO	Rare metabolic liver disease	RFT1-CDG
Orphanet:371235	Orphanet:371212	\N	"" []	Orphanet:244310	"" []	571984	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	RFT1-CDG
Orphanet:90642	Orphanet:371212	\N	"" []	Orphanet:244310	"" []	571985	\N	\N	EFO	2	EFO	Syndromic genetic deafness	RFT1-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:244310	"" []	1154310	\N	\N	EFO	3	EFO	Inborn errors of metabolism	RFT1-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:244310	"" []	1154311	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	RFT1-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:244310	"" []	1154312	\N	\N	EFO	3	EFO	Neurometabolic disease	RFT1-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:244310	"" []	1154313	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	RFT1-CDG
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:244310	"" []	1154314	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	RFT1-CDG
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:244310	"" []	1154315	\N	\N	EFO	3	EFO	Rare genetic deafness	RFT1-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:244310	"" []	2036957	\N	\N	EFO	4	EFO	genetic disorder	RFT1-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:244310	"" []	2036958	\N	\N	EFO	4	EFO	metabolic disease	RFT1-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:244310	"" []	2036959	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	RFT1-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:244310	"" []	2036960	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	RFT1-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:244310	"" []	2036961	\N	\N	EFO	4	EFO	digestive system disease	RFT1-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:244310	"" []	2036962	\N	\N	EFO	4	EFO	genetic disorder	RFT1-CDG
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:244310	"" []	2036963	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	RFT1-CDG
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:244310	"" []	2036964	\N	\N	EFO	4	EFO	genetic disorder	RFT1-CDG
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:244310	"" []	2036965	\N	\N	EFO	4	EFO	auditory system disease	RFT1-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:244310	"" []	5182142	\N	\N	EFO	7	EFO	disease	RFT1-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:244310	"" []	3187308	\N	\N	EFO	5	EFO	disease	RFT1-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:244310	"" []	3187309	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	RFT1-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:244310	"" []	4394530	\N	\N	EFO	6	EFO	genetic disorder	RFT1-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:244310	"" []	3187311	\N	\N	EFO	5	EFO	disease	RFT1-CDG
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:244310	"" []	3187312	\N	\N	EFO	5	EFO	genetic disorder	RFT1-CDG
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:244310	"" []	3187313	\N	\N	EFO	5	EFO	sensory system disease	RFT1-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:244310	"" []	5877068	\N	\N	EFO	8	EFO	disposition	RFT1-CDG
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:244310	"" []	4394532	\N	\N	EFO	6	EFO	nervous system disease	RFT1-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:244310	"" []	6470291	\N	\N	EFO	9	EFO	material property	RFT1-CDG
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:244310	"" []	5412713	\N	\N	EFO	7	EFO	disease	RFT1-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:244310	"" []	6848448	\N	\N	EFO	10	EFO	experimental factor	RFT1-CDG
Orphanet:2445	\N	\N	"" []	Orphanet:2445	"" []	74965	\N	\N	EFO	0	EFO	Conotruncal heart malformations	Conotruncal heart malformations
EFO:0005269	Orphanet:2445	\N	"any structural anomly of the heart that is present from birth" []	Orphanet:2445	"" []	217261	\N	\N	EFO	1	EFO	congenital heart malformation	Conotruncal heart malformations
EFO:0000508	EFO:0005269	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2445	"" []	571986	\N	\N	EFO	2	EFO	genetic disorder	Conotruncal heart malformations
EFO:0005207	EFO:0005269	\N	"any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels" []	Orphanet:2445	"" []	571987	\N	\N	EFO	2	EFO	congenital heart disease	Conotruncal heart malformations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2445	"" []	1154316	\N	\N	EFO	3	EFO	disease	Conotruncal heart malformations
EFO:0003777	EFO:0005207	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2445	"" []	1154317	\N	\N	EFO	3	EFO	heart disease	Conotruncal heart malformations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2445	"" []	4394534	\N	\N	EFO	6	EFO	disposition	Conotruncal heart malformations
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:2445	"" []	2036967	\N	\N	EFO	4	EFO	cardiovascular disease	Conotruncal heart malformations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2445	"" []	5059809	\N	\N	EFO	7	EFO	material property	Conotruncal heart malformations
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2445	"" []	3187315	\N	\N	EFO	5	EFO	disease	Conotruncal heart malformations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2445	"" []	5877069	\N	\N	EFO	8	EFO	experimental factor	Conotruncal heart malformations
Orphanet:245	\N	\N	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	74966	\N	\N	EFO	0	EFO	Nager syndrome	Nager syndrome
Orphanet:108987	Orphanet:245	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	217262	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Nager syndrome
Orphanet:138050	Orphanet:245	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	217263	\N	\N	EFO	1	EFO	Pierre Robin syndrome associated with branchial archs anomalies	Nager syndrome
Orphanet:183576	Orphanet:245	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	217264	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Nager syndrome
Orphanet:330206	Orphanet:245	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	217265	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Nager syndrome
Orphanet:364574	Orphanet:245	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	217266	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Nager syndrome
Orphanet:98566	Orphanet:245	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	217267	\N	\N	EFO	1	EFO	Syndromic palpebral coloboma	Nager syndrome
Orphanet:98576	Orphanet:245	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	217268	\N	\N	EFO	1	EFO	Malposition of external canthus	Nager syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	571988	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Nager syndrome
Orphanet:363294	Orphanet:138050	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	571989	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Nager syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	571990	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Nager syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	571991	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Nager syndrome
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	571992	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Nager syndrome
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	571993	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Nager syndrome
Orphanet:98564	Orphanet:98566	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	571994	\N	\N	EFO	2	EFO	Eyelid border anomaly	Nager syndrome
Orphanet:98572	Orphanet:98576	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	571995	\N	\N	EFO	2	EFO	Canthal anomaly	Nager syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	1154318	\N	\N	EFO	3	EFO	Rare genetic eye disease	Nager syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	1154319	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Nager syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	1154320	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Nager syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	5412714	\N	\N	EFO	7	EFO	genetic disorder	Nager syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	1154322	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Nager syndrome
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	1154323	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Nager syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	1154324	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Nager syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	1154325	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Nager syndrome
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	1154326	\N	\N	EFO	3	EFO	Eyelid malformation	Nager syndrome
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	1154327	\N	\N	EFO	3	EFO	Rare palpebral disease	Nager syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	5182144	\N	\N	EFO	7	EFO	genetic disorder	Nager syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	5182145	\N	\N	EFO	7	EFO	eye disease	Nager syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	2036971	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Nager syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	5801859	\N	\N	EFO	8	EFO	disease	Nager syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	2036973	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Nager syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	2036974	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Nager syndrome
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	2036975	\N	\N	EFO	4	EFO	Rare palpebral disease	Nager syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	3187322	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Nager syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	5817601	\N	\N	EFO	8	EFO	disease	Nager syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	3187317	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Nager syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	6378878	\N	\N	EFO	9	EFO	disposition	Nager syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	3187319	\N	\N	EFO	5	EFO	Rare genetic bone disease	Nager syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	3187320	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Nager syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	3187321	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Nager syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	4133639	\N	\N	EFO	6	EFO	Rare genetic eye disease	Nager syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	4394535	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Nager syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	6778674	\N	\N	EFO	10	EFO	material property	Nager syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	4394537	\N	\N	EFO	6	EFO	genetic disorder	Nager syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	4394538	\N	\N	EFO	6	EFO	bone disease	Nager syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	4394539	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Nager syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	7029876	\N	\N	EFO	11	EFO	experimental factor	Nager syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	5412716	\N	\N	EFO	7	EFO	skeletal system disease	Nager syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:245	"Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." []	6149468	\N	\N	EFO	8	EFO	disease	Nager syndrome
Orphanet:2451	\N	\N	"Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." []	Orphanet:2451	"Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." []	74967	\N	\N	EFO	0	EFO	Mucocutaneous venous malformations	Mucocutaneous venous malformations
Orphanet:211240	Orphanet:2451	\N	"" []	Orphanet:2451	"Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." []	217269	\N	\N	EFO	1	EFO	Genetic vascular anomaly	Mucocutaneous venous malformations
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:2451	"Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." []	571996	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Mucocutaneous venous malformations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2451	"Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." []	1154328	\N	\N	EFO	3	EFO	genetic disorder	Mucocutaneous venous malformations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2451	"Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." []	2036977	\N	\N	EFO	4	EFO	disease	Mucocutaneous venous malformations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2451	"Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." []	3187324	\N	\N	EFO	5	EFO	disposition	Mucocutaneous venous malformations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2451	"Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." []	4394543	\N	\N	EFO	6	EFO	material property	Mucocutaneous venous malformations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2451	"Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." []	5412717	\N	\N	EFO	7	EFO	experimental factor	Mucocutaneous venous malformations
Orphanet:2454	\N	\N	"" []	Orphanet:2454	"" []	74968	\N	\N	EFO	0	EFO	Familial intestinal malrotation - facial anomalies	Familial intestinal malrotation - facial anomalies
Orphanet:108969	Orphanet:2454	\N	"" []	Orphanet:2454	"" []	217270	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Familial intestinal malrotation - facial anomalies
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:2454	"" []	571997	\N	\N	EFO	2	EFO	Intestinal malformation	Familial intestinal malrotation - facial anomalies
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:2454	"" []	1154329	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Familial intestinal malrotation - facial anomalies
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2454	"" []	2036978	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial intestinal malrotation - facial anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2454	"" []	3187325	\N	\N	EFO	5	EFO	genetic disorder	Familial intestinal malrotation - facial anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2454	"" []	4394544	\N	\N	EFO	6	EFO	disease	Familial intestinal malrotation - facial anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2454	"" []	5412718	\N	\N	EFO	7	EFO	disposition	Familial intestinal malrotation - facial anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2454	"" []	6149469	\N	\N	EFO	8	EFO	material property	Familial intestinal malrotation - facial anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2454	"" []	6632642	\N	\N	EFO	9	EFO	experimental factor	Familial intestinal malrotation - facial anomalies
Orphanet:2457	\N	\N	"" []	Orphanet:2457	"" []	74969	\N	\N	EFO	0	EFO	Mandibuloacral dysplasia	Mandibuloacral dysplasia
Orphanet:330206	Orphanet:2457	\N	"" []	Orphanet:2457	"" []	217271	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Mandibuloacral dysplasia
Orphanet:363245	Orphanet:2457	\N	"" []	Orphanet:2457	"" []	217272	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Mandibuloacral dysplasia
Orphanet:93449	Orphanet:2457	\N	"" []	Orphanet:2457	"" []	217273	\N	\N	EFO	1	EFO	Primary osteolysis	Mandibuloacral dysplasia
Orphanet:98306	Orphanet:2457	\N	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	Orphanet:2457	"" []	217274	\N	\N	EFO	1	EFO	Familial partial lipodystrophy	Mandibuloacral dysplasia
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2457	"" []	571998	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Mandibuloacral dysplasia
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:2457	"" []	571999	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Mandibuloacral dysplasia
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:2457	"" []	572000	\N	\N	EFO	2	EFO	Primary bone dysplasia	Mandibuloacral dysplasia
EFO:1000727	Orphanet:98306	\N	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	Orphanet:2457	"" []	572001	\N	\N	EFO	2	EFO	lipodystrophy	Mandibuloacral dysplasia
Orphanet:98305	Orphanet:98306	\N	"" []	Orphanet:2457	"" []	572002	\N	\N	EFO	2	EFO	Genetic lipodystrophy	Mandibuloacral dysplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2457	"" []	1154330	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mandibuloacral dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2457	"" []	3187328	\N	\N	EFO	5	EFO	genetic disorder	Mandibuloacral dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2457	"" []	1154332	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mandibuloacral dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2457	"" []	1154333	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Mandibuloacral dysplasia
EFO:0000701	EFO:1000727	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2457	"" []	1154334	\N	\N	EFO	3	EFO	skin disease	Mandibuloacral dysplasia
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:2457	"" []	1154335	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Mandibuloacral dysplasia
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:2457	"" []	1154336	\N	\N	EFO	3	EFO	Primary lipodystrophy	Mandibuloacral dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2457	"" []	5412720	\N	\N	EFO	7	EFO	disease	Mandibuloacral dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2457	"" []	2036981	\N	\N	EFO	4	EFO	genetic disorder	Mandibuloacral dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2457	"" []	2036982	\N	\N	EFO	4	EFO	bone disease	Mandibuloacral dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2457	"" []	2036983	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mandibuloacral dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2457	"" []	5412721	\N	\N	EFO	7	EFO	disease	Mandibuloacral dysplasia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2457	"" []	2036985	\N	\N	EFO	4	EFO	genetic disorder	Mandibuloacral dysplasia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2457	"" []	2036986	\N	\N	EFO	4	EFO	endocrine system disease	Mandibuloacral dysplasia
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:2457	"" []	2036987	\N	\N	EFO	4	EFO	Genetic subcutaneous tissue disorder	Mandibuloacral dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2457	"" []	5817603	\N	\N	EFO	8	EFO	disposition	Mandibuloacral dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2457	"" []	3187327	\N	\N	EFO	5	EFO	skeletal system disease	Mandibuloacral dysplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2457	"" []	3187329	\N	\N	EFO	5	EFO	disease	Mandibuloacral dysplasia
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:2457	"" []	3187330	\N	\N	EFO	5	EFO	Rare genetic skin disease	Mandibuloacral dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2457	"" []	6409996	\N	\N	EFO	9	EFO	material property	Mandibuloacral dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2457	"" []	4394546	\N	\N	EFO	6	EFO	disease	Mandibuloacral dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2457	"" []	4394547	\N	\N	EFO	6	EFO	genetic disorder	Mandibuloacral dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2457	"" []	4394548	\N	\N	EFO	6	EFO	skin disease	Mandibuloacral dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2457	"" []	6807846	\N	\N	EFO	10	EFO	experimental factor	Mandibuloacral dysplasia
Orphanet:246	\N	\N	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	74970	\N	\N	EFO	0	EFO	Postaxial acrofacial dysostosis	Postaxial acrofacial dysostosis
Orphanet:108987	Orphanet:246	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	217275	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Postaxial acrofacial dysostosis
Orphanet:156237	Orphanet:246	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	217276	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Postaxial acrofacial dysostosis
Orphanet:183576	Orphanet:246	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	217277	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Postaxial acrofacial dysostosis
Orphanet:330206	Orphanet:246	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	217278	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Postaxial acrofacial dysostosis
Orphanet:364574	Orphanet:246	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	217279	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Postaxial acrofacial dysostosis
Orphanet:98566	Orphanet:246	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	217280	\N	\N	EFO	1	EFO	Syndromic palpebral coloboma	Postaxial acrofacial dysostosis
Orphanet:98571	Orphanet:246	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	217281	\N	\N	EFO	1	EFO	Secondary ectropion	Postaxial acrofacial dysostosis
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	572003	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Postaxial acrofacial dysostosis
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	572004	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Postaxial acrofacial dysostosis
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	572005	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Postaxial acrofacial dysostosis
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	572006	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Postaxial acrofacial dysostosis
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	572007	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Postaxial acrofacial dysostosis
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	572008	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Postaxial acrofacial dysostosis
Orphanet:98564	Orphanet:98566	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	572009	\N	\N	EFO	2	EFO	Eyelid border anomaly	Postaxial acrofacial dysostosis
Orphanet:98567	Orphanet:98571	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	572010	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Postaxial acrofacial dysostosis
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	1154337	\N	\N	EFO	3	EFO	Rare genetic eye disease	Postaxial acrofacial dysostosis
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	1154338	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Postaxial acrofacial dysostosis
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	1154339	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Postaxial acrofacial dysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	5412724	\N	\N	EFO	7	EFO	genetic disorder	Postaxial acrofacial dysostosis
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	1154341	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Postaxial acrofacial dysostosis
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	1154342	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial acrofacial dysostosis
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	1154343	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial acrofacial dysostosis
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	1154344	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Postaxial acrofacial dysostosis
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	1154345	\N	\N	EFO	3	EFO	Eyelid malformation	Postaxial acrofacial dysostosis
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	1154346	\N	\N	EFO	3	EFO	Rare palpebral disease	Postaxial acrofacial dysostosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	5182148	\N	\N	EFO	7	EFO	genetic disorder	Postaxial acrofacial dysostosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	5182149	\N	\N	EFO	7	EFO	eye disease	Postaxial acrofacial dysostosis
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	2036991	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Postaxial acrofacial dysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	5801860	\N	\N	EFO	8	EFO	disease	Postaxial acrofacial dysostosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	2036993	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Postaxial acrofacial dysostosis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	2036994	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Postaxial acrofacial dysostosis
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	2036995	\N	\N	EFO	4	EFO	Rare palpebral disease	Postaxial acrofacial dysostosis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	3187337	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Postaxial acrofacial dysostosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	5817604	\N	\N	EFO	8	EFO	disease	Postaxial acrofacial dysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	6378879	\N	\N	EFO	9	EFO	disposition	Postaxial acrofacial dysostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	3187334	\N	\N	EFO	5	EFO	Rare genetic bone disease	Postaxial acrofacial dysostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	3187335	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Postaxial acrofacial dysostosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	3187336	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Postaxial acrofacial dysostosis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	4133642	\N	\N	EFO	6	EFO	Rare genetic eye disease	Postaxial acrofacial dysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	6778675	\N	\N	EFO	10	EFO	material property	Postaxial acrofacial dysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	4394550	\N	\N	EFO	6	EFO	genetic disorder	Postaxial acrofacial dysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	4394551	\N	\N	EFO	6	EFO	bone disease	Postaxial acrofacial dysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	4394552	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Postaxial acrofacial dysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	7029877	\N	\N	EFO	11	EFO	experimental factor	Postaxial acrofacial dysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	5412723	\N	\N	EFO	7	EFO	skeletal system disease	Postaxial acrofacial dysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:246	"Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." []	6149470	\N	\N	EFO	8	EFO	disease	Postaxial acrofacial dysostosis
Orphanet:2460	\N	\N	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	74971	\N	\N	EFO	0	EFO	Van den Ende-Gupta syndrome	Van den Ende-Gupta syndrome
Orphanet:1037	Orphanet:2460	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	217282	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Van den Ende-Gupta syndrome
Orphanet:156237	Orphanet:2460	\N	"" []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	217283	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Van den Ende-Gupta syndrome
Orphanet:330206	Orphanet:2460	\N	"" []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	217284	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Van den Ende-Gupta syndrome
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	572011	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Van den Ende-Gupta syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	572012	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Van den Ende-Gupta syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	572013	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Van den Ende-Gupta syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	1154347	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Van den Ende-Gupta syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	1154348	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Van den Ende-Gupta syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	1154349	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Van den Ende-Gupta syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	2036997	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Van den Ende-Gupta syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	2036998	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Van den Ende-Gupta syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	4394556	\N	\N	EFO	6	EFO	genetic disorder	Van den Ende-Gupta syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	3187339	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Van den Ende-Gupta syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	5059814	\N	\N	EFO	7	EFO	disease	Van den Ende-Gupta syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	5877072	\N	\N	EFO	8	EFO	disposition	Van den Ende-Gupta syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	6470294	\N	\N	EFO	9	EFO	material property	Van den Ende-Gupta syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2460	"Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." []	6848449	\N	\N	EFO	10	EFO	experimental factor	Van den Ende-Gupta syndrome
Orphanet:2461	\N	\N	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	74972	\N	\N	EFO	0	EFO	Marden-Walker syndrome	Marden-Walker syndrome
Orphanet:102283	Orphanet:2461	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	217285	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Marden-Walker syndrome
Orphanet:1037	Orphanet:2461	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	217286	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Marden-Walker syndrome
Orphanet:156237	Orphanet:2461	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	217287	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Marden-Walker syndrome
Orphanet:183763	Orphanet:2461	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	217288	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Marden-Walker syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	572014	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Marden-Walker syndrome
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	572015	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Marden-Walker syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	572016	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Marden-Walker syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	572017	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Marden-Walker syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	1154350	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Marden-Walker syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	1154351	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Marden-Walker syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	1154352	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Marden-Walker syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	1154353	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Marden-Walker syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	4394559	\N	\N	EFO	6	EFO	genetic disorder	Marden-Walker syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	2037001	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Marden-Walker syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	2037002	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Marden-Walker syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	2037003	\N	\N	EFO	4	EFO	genetic disorder	Marden-Walker syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	5059815	\N	\N	EFO	7	EFO	disease	Marden-Walker syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	3187343	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Marden-Walker syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	5877073	\N	\N	EFO	8	EFO	disposition	Marden-Walker syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	6470295	\N	\N	EFO	9	EFO	material property	Marden-Walker syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2461	"Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." []	6848450	\N	\N	EFO	10	EFO	experimental factor	Marden-Walker syndrome
Orphanet:2462	\N	\N	"" []	Orphanet:2462	"" []	74973	\N	\N	EFO	0	EFO	Shprintzen-Goldberg syndrome	Shprintzen-Goldberg syndrome
Orphanet:102283	Orphanet:2462	\N	"" []	Orphanet:2462	"" []	217289	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Shprintzen-Goldberg syndrome
Orphanet:139393	Orphanet:2462	\N	"" []	Orphanet:2462	"" []	217290	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Shprintzen-Goldberg syndrome
Orphanet:183763	Orphanet:2462	\N	"" []	Orphanet:2462	"" []	217291	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Shprintzen-Goldberg syndrome
Orphanet:284993	Orphanet:2462	\N	"" []	Orphanet:2462	"" []	217292	\N	\N	EFO	1	EFO	Marfan and Marfan-related disorder	Shprintzen-Goldberg syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2462	"" []	572018	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Shprintzen-Goldberg syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:2462	"" []	572019	\N	\N	EFO	2	EFO	Craniosynostosis	Shprintzen-Goldberg syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2462	"" []	572020	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Shprintzen-Goldberg syndrome
Orphanet:271870	Orphanet:284993	\N	"" []	Orphanet:2462	"" []	572021	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Shprintzen-Goldberg syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2462	"" []	1154354	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Shprintzen-Goldberg syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:2462	"" []	1154355	\N	\N	EFO	3	EFO	Genetic cranial malformation	Shprintzen-Goldberg syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:2462	"" []	1154356	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Shprintzen-Goldberg syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2462	"" []	1154357	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Shprintzen-Goldberg syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2462	"" []	1154358	\N	\N	EFO	3	EFO	genetic disorder	Shprintzen-Goldberg syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2462	"" []	4394561	\N	\N	EFO	6	EFO	genetic disorder	Shprintzen-Goldberg syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:2462	"" []	2037005	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Shprintzen-Goldberg syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2462	"" []	2037006	\N	\N	EFO	4	EFO	Rare genetic bone disease	Shprintzen-Goldberg syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2462	"" []	2037007	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Shprintzen-Goldberg syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2462	"" []	2037008	\N	\N	EFO	4	EFO	genetic disorder	Shprintzen-Goldberg syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2462	"" []	5059816	\N	\N	EFO	7	EFO	disease	Shprintzen-Goldberg syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2462	"" []	3187347	\N	\N	EFO	5	EFO	genetic disorder	Shprintzen-Goldberg syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2462	"" []	3187348	\N	\N	EFO	5	EFO	bone disease	Shprintzen-Goldberg syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2462	"" []	3187349	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Shprintzen-Goldberg syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2462	"" []	5817606	\N	\N	EFO	8	EFO	disposition	Shprintzen-Goldberg syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2462	"" []	4394560	\N	\N	EFO	6	EFO	skeletal system disease	Shprintzen-Goldberg syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2462	"" []	6409998	\N	\N	EFO	9	EFO	material property	Shprintzen-Goldberg syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2462	"" []	5412727	\N	\N	EFO	7	EFO	disease	Shprintzen-Goldberg syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2462	"" []	6807848	\N	\N	EFO	10	EFO	experimental factor	Shprintzen-Goldberg syndrome
Orphanet:2463	\N	\N	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	74974	\N	\N	EFO	0	EFO	Marfanoid habitus - intellectual disability, autosomal recessive	Marfanoid habitus - intellectual disability, autosomal recessive
Orphanet:102283	Orphanet:2463	\N	"" []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	217293	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Marfanoid habitus - intellectual disability, autosomal recessive
Orphanet:183763	Orphanet:2463	\N	"" []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	217294	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Marfanoid habitus - intellectual disability, autosomal recessive
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	572022	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Marfanoid habitus - intellectual disability, autosomal recessive
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	572023	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Marfanoid habitus - intellectual disability, autosomal recessive
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	1154359	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Marfanoid habitus - intellectual disability, autosomal recessive
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	1154360	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Marfanoid habitus - intellectual disability, autosomal recessive
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	2037010	\N	\N	EFO	4	EFO	genetic disorder	Marfanoid habitus - intellectual disability, autosomal recessive
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	2037011	\N	\N	EFO	4	EFO	genetic disorder	Marfanoid habitus - intellectual disability, autosomal recessive
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	3187351	\N	\N	EFO	5	EFO	disease	Marfanoid habitus - intellectual disability, autosomal recessive
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	4394563	\N	\N	EFO	6	EFO	disposition	Marfanoid habitus - intellectual disability, autosomal recessive
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	5412729	\N	\N	EFO	7	EFO	material property	Marfanoid habitus - intellectual disability, autosomal recessive
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2463	"Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." []	6149473	\N	\N	EFO	8	EFO	experimental factor	Marfanoid habitus - intellectual disability, autosomal recessive
Orphanet:2464	\N	\N	"" []	Orphanet:2464	"" []	74975	\N	\N	EFO	0	EFO	Marfanoid syndrome, De Silva type	Marfanoid syndrome, De Silva type
Orphanet:108969	Orphanet:2464	\N	"" []	Orphanet:2464	"" []	217295	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Marfanoid syndrome, De Silva type
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:2464	"" []	572024	\N	\N	EFO	2	EFO	Intestinal malformation	Marfanoid syndrome, De Silva type
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:2464	"" []	1154361	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Marfanoid syndrome, De Silva type
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2464	"" []	2037012	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Marfanoid syndrome, De Silva type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2464	"" []	3187352	\N	\N	EFO	5	EFO	genetic disorder	Marfanoid syndrome, De Silva type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2464	"" []	4394564	\N	\N	EFO	6	EFO	disease	Marfanoid syndrome, De Silva type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2464	"" []	5412730	\N	\N	EFO	7	EFO	disposition	Marfanoid syndrome, De Silva type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2464	"" []	6149474	\N	\N	EFO	8	EFO	material property	Marfanoid syndrome, De Silva type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2464	"" []	6632643	\N	\N	EFO	9	EFO	experimental factor	Marfanoid syndrome, De Silva type
Orphanet:2466	\N	\N	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	74976	\N	\N	EFO	0	EFO	MASA syndrome	MASA syndrome
Orphanet:275543	Orphanet:2466	\N	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	217296	\N	\N	EFO	1	EFO	L1 syndrome	MASA syndrome
Orphanet:98888	Orphanet:2466	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	217297	\N	\N	EFO	1	EFO	X-linked complex spastic paraplegia	MASA syndrome
Orphanet:269573	Orphanet:275543	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	572025	\N	\N	EFO	2	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	MASA syndrome
Orphanet:98464	Orphanet:275543	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	572026	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	MASA syndrome
Orphanet:102013	Orphanet:98888	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	572027	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	MASA syndrome
Orphanet:98464	Orphanet:98888	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	572028	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	MASA syndrome
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	1154362	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	MASA syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	1154363	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	MASA syndrome
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	1154364	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	MASA syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	2037013	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	MASA syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	2037014	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	MASA syndrome
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	2037015	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	MASA syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	3187353	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	MASA syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	3187354	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	MASA syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	3187355	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	MASA syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	3187356	\N	\N	EFO	5	EFO	neurodegenerative disease	MASA syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	3187357	\N	\N	EFO	5	EFO	brain disease	MASA syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	3187358	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	MASA syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	4394565	\N	\N	EFO	6	EFO	genetic disorder	MASA syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	4394566	\N	\N	EFO	6	EFO	genetic disorder	MASA syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	4394567	\N	\N	EFO	6	EFO	nervous system disease	MASA syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	4394568	\N	\N	EFO	6	EFO	nervous system disease	MASA syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	5412731	\N	\N	EFO	7	EFO	disease	MASA syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	5412732	\N	\N	EFO	7	EFO	disease	MASA syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	6149475	\N	\N	EFO	8	EFO	disposition	MASA syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	6632644	\N	\N	EFO	9	EFO	material property	MASA syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2466	"MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." []	6925593	\N	\N	EFO	10	EFO	experimental factor	MASA syndrome
Orphanet:247	\N	\N	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	Orphanet:247	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	74977	\N	\N	EFO	0	EFO	Arrhythmogenic right ventricular dysplasia	Arrhythmogenic right ventricular dysplasia
Orphanet:98054	Orphanet:247	\N	"" []	Orphanet:247	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	217298	\N	\N	EFO	1	EFO	Rare genetic cardiac disease	Arrhythmogenic right ventricular dysplasia
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	572029	\N	\N	EFO	2	EFO	genetic disorder	Arrhythmogenic right ventricular dysplasia
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:247	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	572030	\N	\N	EFO	2	EFO	heart disease	Arrhythmogenic right ventricular dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	1154365	\N	\N	EFO	3	EFO	disease	Arrhythmogenic right ventricular dysplasia
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:247	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	1154366	\N	\N	EFO	3	EFO	cardiovascular disease	Arrhythmogenic right ventricular dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	3187360	\N	\N	EFO	5	EFO	disposition	Arrhythmogenic right ventricular dysplasia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	2037017	\N	\N	EFO	4	EFO	disease	Arrhythmogenic right ventricular dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	4133647	\N	\N	EFO	6	EFO	material property	Arrhythmogenic right ventricular dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	5182153	\N	\N	EFO	7	EFO	experimental factor	Arrhythmogenic right ventricular dysplasia
Orphanet:2470	\N	\N	"" []	Orphanet:2470	"" []	74978	\N	\N	EFO	0	EFO	Matthew-Wood syndrome	Matthew-Wood syndrome
Orphanet:108993	Orphanet:2470	\N	"" []	Orphanet:2470	"" []	217299	\N	\N	EFO	1	EFO	Non-syndromic respiratory or mediastinal malformation	Matthew-Wood syndrome
Orphanet:183622	Orphanet:2470	\N	"" []	Orphanet:2470	"" []	217300	\N	\N	EFO	1	EFO	Genetic respiratory malformation	Matthew-Wood syndrome
Orphanet:202948	Orphanet:2470	\N	"" []	Orphanet:2470	"" []	217301	\N	\N	EFO	1	EFO	Syndromic microphthalmia	Matthew-Wood syndrome
Orphanet:330206	Orphanet:2470	\N	"" []	Orphanet:2470	"" []	217302	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Matthew-Wood syndrome
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:2470	"" []	572031	\N	\N	EFO	2	EFO	Genetic respiratory or mediastinal malformation	Matthew-Wood syndrome
Orphanet:156610	Orphanet:183622	\N	"" []	Orphanet:2470	"" []	572032	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Matthew-Wood syndrome
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:2470	"" []	572033	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Matthew-Wood syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2470	"" []	572034	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Matthew-Wood syndrome
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2470	"" []	1154367	\N	\N	EFO	3	EFO	respiratory system disease	Matthew-Wood syndrome
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:2470	"" []	1154368	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Matthew-Wood syndrome
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2470	"" []	1154369	\N	\N	EFO	3	EFO	genetic disorder	Matthew-Wood syndrome
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2470	"" []	1154370	\N	\N	EFO	3	EFO	respiratory system disease	Matthew-Wood syndrome
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:2470	"" []	1154371	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Matthew-Wood syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2470	"" []	1154372	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Matthew-Wood syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2470	"" []	2037018	\N	\N	EFO	4	EFO	disease	Matthew-Wood syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2470	"" []	4394573	\N	\N	EFO	6	EFO	genetic disorder	Matthew-Wood syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2470	"" []	5059818	\N	\N	EFO	7	EFO	disease	Matthew-Wood syndrome
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:2470	"" []	2037021	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Matthew-Wood syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2470	"" []	5817607	\N	\N	EFO	8	EFO	disposition	Matthew-Wood syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2470	"" []	3187363	\N	\N	EFO	5	EFO	Rare genetic eye disease	Matthew-Wood syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2470	"" []	3187364	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Matthew-Wood syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2470	"" []	6409999	\N	\N	EFO	9	EFO	material property	Matthew-Wood syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2470	"" []	4394571	\N	\N	EFO	6	EFO	genetic disorder	Matthew-Wood syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2470	"" []	4394572	\N	\N	EFO	6	EFO	eye disease	Matthew-Wood syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2470	"" []	6807849	\N	\N	EFO	10	EFO	experimental factor	Matthew-Wood syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2470	"" []	5412734	\N	\N	EFO	7	EFO	disease	Matthew-Wood syndrome
Orphanet:2471	\N	\N	"" []	Orphanet:2471	"" []	74979	\N	\N	EFO	0	EFO	McDonough syndrome	McDonough syndrome
Orphanet:102283	Orphanet:2471	\N	"" []	Orphanet:2471	"" []	217303	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	McDonough syndrome
Orphanet:183763	Orphanet:2471	\N	"" []	Orphanet:2471	"" []	217304	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	McDonough syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2471	"" []	572035	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	McDonough syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2471	"" []	572036	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	McDonough syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2471	"" []	1154373	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	McDonough syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2471	"" []	1154374	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	McDonough syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2471	"" []	2037022	\N	\N	EFO	4	EFO	genetic disorder	McDonough syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2471	"" []	2037023	\N	\N	EFO	4	EFO	genetic disorder	McDonough syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2471	"" []	3187365	\N	\N	EFO	5	EFO	disease	McDonough syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2471	"" []	4394574	\N	\N	EFO	6	EFO	disposition	McDonough syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2471	"" []	5412735	\N	\N	EFO	7	EFO	material property	McDonough syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2471	"" []	6149476	\N	\N	EFO	8	EFO	experimental factor	McDonough syndrome
Orphanet:247198	\N	\N	"" []	Orphanet:247198	"" []	74980	\N	\N	EFO	0	EFO	Progressive cerebello-cerebral atrophy	Progressive cerebello-cerebral atrophy
Orphanet:269564	Orphanet:247198	\N	"" []	Orphanet:247198	"" []	217305	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Progressive cerebello-cerebral atrophy
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:247198	"" []	572037	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Progressive cerebello-cerebral atrophy
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:247198	"" []	1154375	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Progressive cerebello-cerebral atrophy
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:247198	"" []	1154376	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Progressive cerebello-cerebral atrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247198	"" []	2037024	\N	\N	EFO	4	EFO	genetic disorder	Progressive cerebello-cerebral atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247198	"" []	2037025	\N	\N	EFO	4	EFO	genetic disorder	Progressive cerebello-cerebral atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247198	"" []	3187366	\N	\N	EFO	5	EFO	disease	Progressive cerebello-cerebral atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247198	"" []	4394575	\N	\N	EFO	6	EFO	disposition	Progressive cerebello-cerebral atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247198	"" []	5412736	\N	\N	EFO	7	EFO	material property	Progressive cerebello-cerebral atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247198	"" []	6149477	\N	\N	EFO	8	EFO	experimental factor	Progressive cerebello-cerebral atrophy
Orphanet:247262	\N	\N	"" []	Orphanet:247262	"" []	74981	\N	\N	EFO	0	EFO	Hyperphosphatasia-intellectual disability syndrome	Hyperphosphatasia-intellectual disability syndrome
Orphanet:183763	Orphanet:247262	\N	"" []	Orphanet:247262	"" []	217306	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hyperphosphatasia-intellectual disability syndrome
Orphanet:309515	Orphanet:247262	\N	"" []	Orphanet:247262	"" []	217307	\N	\N	EFO	1	EFO	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	Hyperphosphatasia-intellectual disability syndrome
Orphanet:371195	Orphanet:247262	\N	"" []	Orphanet:247262	"" []	217308	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation-related bone disorder	Hyperphosphatasia-intellectual disability syndrome
Orphanet:69028	Orphanet:247262	\N	"" []	Orphanet:247262	"" []	217309	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Hyperphosphatasia-intellectual disability syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:247262	"" []	572038	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hyperphosphatasia-intellectual disability syndrome
Orphanet:137	Orphanet:309515	\N	"" []	Orphanet:247262	"" []	572039	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Hyperphosphatasia-intellectual disability syndrome
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:247262	"" []	572040	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Hyperphosphatasia-intellectual disability syndrome
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:247262	"" []	572041	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Hyperphosphatasia-intellectual disability syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:247262	"" []	572042	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Hyperphosphatasia-intellectual disability syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:247262	"" []	572043	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Hyperphosphatasia-intellectual disability syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:247262	"" []	1154377	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hyperphosphatasia-intellectual disability syndrome
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:247262	"" []	1154378	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hyperphosphatasia-intellectual disability syndrome
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:247262	"" []	1154379	\N	\N	EFO	3	EFO	Rare genetic bone disease	Hyperphosphatasia-intellectual disability syndrome
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:247262	"" []	1154380	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Hyperphosphatasia-intellectual disability syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:247262	"" []	1154381	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Hyperphosphatasia-intellectual disability syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:247262	"" []	1154382	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Hyperphosphatasia-intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247262	"" []	2037026	\N	\N	EFO	4	EFO	genetic disorder	Hyperphosphatasia-intellectual disability syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247262	"" []	2037027	\N	\N	EFO	4	EFO	genetic disorder	Hyperphosphatasia-intellectual disability syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:247262	"" []	2037028	\N	\N	EFO	4	EFO	metabolic disease	Hyperphosphatasia-intellectual disability syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247262	"" []	3187371	\N	\N	EFO	5	EFO	genetic disorder	Hyperphosphatasia-intellectual disability syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:247262	"" []	3187372	\N	\N	EFO	5	EFO	bone disease	Hyperphosphatasia-intellectual disability syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:247262	"" []	2037031	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hyperphosphatasia-intellectual disability syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:247262	"" []	2037032	\N	\N	EFO	4	EFO	Rare genetic bone disease	Hyperphosphatasia-intellectual disability syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:247262	"" []	2037033	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Hyperphosphatasia-intellectual disability syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:247262	"" []	2037034	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hyperphosphatasia-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247262	"" []	5182157	\N	\N	EFO	7	EFO	disease	Hyperphosphatasia-intellectual disability syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247262	"" []	3187368	\N	\N	EFO	5	EFO	disease	Hyperphosphatasia-intellectual disability syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:247262	"" []	4133650	\N	\N	EFO	6	EFO	skeletal system disease	Hyperphosphatasia-intellectual disability syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247262	"" []	4394578	\N	\N	EFO	6	EFO	genetic disorder	Hyperphosphatasia-intellectual disability syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:247262	"" []	3187373	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hyperphosphatasia-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247262	"" []	5877075	\N	\N	EFO	8	EFO	disposition	Hyperphosphatasia-intellectual disability syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247262	"" []	5182156	\N	\N	EFO	7	EFO	disease	Hyperphosphatasia-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247262	"" []	6470297	\N	\N	EFO	9	EFO	material property	Hyperphosphatasia-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247262	"" []	6848451	\N	\N	EFO	10	EFO	experimental factor	Hyperphosphatasia-intellectual disability syndrome
Orphanet:2473	\N	\N	"" []	Orphanet:2473	"" []	74982	\N	\N	EFO	0	EFO	McKusick-Kaufman syndrome	McKusick-Kaufman syndrome
Orphanet:330206	Orphanet:2473	\N	"" []	Orphanet:2473	"" []	217310	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	McKusick-Kaufman syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2473	"" []	572044	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	McKusick-Kaufman syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2473	"" []	1154383	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	McKusick-Kaufman syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2473	"" []	2037035	\N	\N	EFO	4	EFO	genetic disorder	McKusick-Kaufman syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2473	"" []	3187374	\N	\N	EFO	5	EFO	disease	McKusick-Kaufman syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2473	"" []	4394579	\N	\N	EFO	6	EFO	disposition	McKusick-Kaufman syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2473	"" []	5412738	\N	\N	EFO	7	EFO	material property	McKusick-Kaufman syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2473	"" []	6149479	\N	\N	EFO	8	EFO	experimental factor	McKusick-Kaufman syndrome
Orphanet:247353	\N	\N	"Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." []	Orphanet:247353	"Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." []	74983	\N	\N	EFO	0	EFO	Generalized pustular psoriasis	Generalized pustular psoriasis
Orphanet:79360	Orphanet:247353	\N	"" []	Orphanet:247353	"Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." []	217311	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Generalized pustular psoriasis
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:247353	"Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." []	572045	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Generalized pustular psoriasis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:247353	"Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." []	1154384	\N	\N	EFO	3	EFO	Rare genetic skin disease	Generalized pustular psoriasis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247353	"Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." []	2037036	\N	\N	EFO	4	EFO	genetic disorder	Generalized pustular psoriasis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:247353	"Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." []	2037037	\N	\N	EFO	4	EFO	skin disease	Generalized pustular psoriasis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247353	"Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." []	3187375	\N	\N	EFO	5	EFO	disease	Generalized pustular psoriasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247353	"Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." []	3187376	\N	\N	EFO	5	EFO	disease	Generalized pustular psoriasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247353	"Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." []	4394580	\N	\N	EFO	6	EFO	disposition	Generalized pustular psoriasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247353	"Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." []	5412739	\N	\N	EFO	7	EFO	material property	Generalized pustular psoriasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247353	"Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." []	6149480	\N	\N	EFO	8	EFO	experimental factor	Generalized pustular psoriasis
Orphanet:247378	\N	\N	"" []	Orphanet:247378	"" []	74984	\N	\N	EFO	0	EFO	Autosomal recessive secondary polycythemia not associated with VHL gene	Autosomal recessive secondary polycythemia not associated with VHL gene
Orphanet:238536	Orphanet:247378	\N	"" []	Orphanet:247378	"" []	217312	\N	\N	EFO	1	EFO	Congenital secondary polycythemia	Autosomal recessive secondary polycythemia not associated with VHL gene
Orphanet:98428	Orphanet:238536	\N	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	Orphanet:247378	"" []	572046	\N	\N	EFO	2	EFO	Secondary polycythemia	Autosomal recessive secondary polycythemia not associated with VHL gene
Orphanet:250165	Orphanet:98428	\N	"" []	Orphanet:247378	"" []	1154385	\N	\N	EFO	3	EFO	Genetic polycythemia	Autosomal recessive secondary polycythemia not associated with VHL gene
EFO:0005804	Orphanet:250165	\N	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	Orphanet:247378	"" []	2037038	\N	\N	EFO	4	EFO	polycythemia	Autosomal recessive secondary polycythemia not associated with VHL gene
Orphanet:158300	Orphanet:250165	\N	"" []	Orphanet:247378	"" []	2037039	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Autosomal recessive secondary polycythemia not associated with VHL gene
EFO:0005803	EFO:0005804	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:247378	"" []	3187377	\N	\N	EFO	5	EFO	hematological system disease	Autosomal recessive secondary polycythemia not associated with VHL gene
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247378	"" []	3187378	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive secondary polycythemia not associated with VHL gene
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:247378	"" []	3187379	\N	\N	EFO	5	EFO	hematological system disease	Autosomal recessive secondary polycythemia not associated with VHL gene
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247378	"" []	4394581	\N	\N	EFO	6	EFO	disease	Autosomal recessive secondary polycythemia not associated with VHL gene
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247378	"" []	4394582	\N	\N	EFO	6	EFO	disease	Autosomal recessive secondary polycythemia not associated with VHL gene
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247378	"" []	5412740	\N	\N	EFO	7	EFO	disposition	Autosomal recessive secondary polycythemia not associated with VHL gene
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247378	"" []	6149481	\N	\N	EFO	8	EFO	material property	Autosomal recessive secondary polycythemia not associated with VHL gene
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247378	"" []	6632645	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive secondary polycythemia not associated with VHL gene
Orphanet:2475	\N	\N	"" []	Orphanet:2475	"" []	74985	\N	\N	EFO	0	EFO	White forelock with malformations	White forelock with malformations
Orphanet:330206	Orphanet:2475	\N	"" []	Orphanet:2475	"" []	217313	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	White forelock with malformations
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2475	"" []	572047	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	White forelock with malformations
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2475	"" []	1154386	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	White forelock with malformations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2475	"" []	2037040	\N	\N	EFO	4	EFO	genetic disorder	White forelock with malformations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2475	"" []	3187380	\N	\N	EFO	5	EFO	disease	White forelock with malformations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2475	"" []	4394583	\N	\N	EFO	6	EFO	disposition	White forelock with malformations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2475	"" []	5412741	\N	\N	EFO	7	EFO	material property	White forelock with malformations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2475	"" []	6149482	\N	\N	EFO	8	EFO	experimental factor	White forelock with malformations
Orphanet:247511	\N	\N	"" []	Orphanet:247511	"" []	74986	\N	\N	EFO	0	EFO	Autosomal dominant secondary polycythemia	Autosomal dominant secondary polycythemia
Orphanet:238536	Orphanet:247511	\N	"" []	Orphanet:247511	"" []	217314	\N	\N	EFO	1	EFO	Congenital secondary polycythemia	Autosomal dominant secondary polycythemia
Orphanet:98428	Orphanet:238536	\N	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	Orphanet:247511	"" []	572048	\N	\N	EFO	2	EFO	Secondary polycythemia	Autosomal dominant secondary polycythemia
Orphanet:250165	Orphanet:98428	\N	"" []	Orphanet:247511	"" []	1154387	\N	\N	EFO	3	EFO	Genetic polycythemia	Autosomal dominant secondary polycythemia
EFO:0005804	Orphanet:250165	\N	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	Orphanet:247511	"" []	2037041	\N	\N	EFO	4	EFO	polycythemia	Autosomal dominant secondary polycythemia
Orphanet:158300	Orphanet:250165	\N	"" []	Orphanet:247511	"" []	2037042	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Autosomal dominant secondary polycythemia
EFO:0005803	EFO:0005804	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:247511	"" []	3187381	\N	\N	EFO	5	EFO	hematological system disease	Autosomal dominant secondary polycythemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247511	"" []	3187382	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant secondary polycythemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:247511	"" []	3187383	\N	\N	EFO	5	EFO	hematological system disease	Autosomal dominant secondary polycythemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247511	"" []	4394584	\N	\N	EFO	6	EFO	disease	Autosomal dominant secondary polycythemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247511	"" []	4394585	\N	\N	EFO	6	EFO	disease	Autosomal dominant secondary polycythemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247511	"" []	5412742	\N	\N	EFO	7	EFO	disposition	Autosomal dominant secondary polycythemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247511	"" []	6149483	\N	\N	EFO	8	EFO	material property	Autosomal dominant secondary polycythemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247511	"" []	6632646	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant secondary polycythemia
Orphanet:247522	\N	\N	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	74987	\N	\N	EFO	0	EFO	Primary ciliary dyskinesia - retinitis pigmentosa	Primary ciliary dyskinesia - retinitis pigmentosa
EFO:0003900	Orphanet:247522	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	217315	\N	\N	EFO	1	EFO	ciliopathy	Primary ciliary dyskinesia - retinitis pigmentosa
Orphanet:156610	Orphanet:247522	\N	"" []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	217316	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Primary ciliary dyskinesia - retinitis pigmentosa
Orphanet:98661	Orphanet:247522	\N	"" []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	217317	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Primary ciliary dyskinesia - retinitis pigmentosa
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	572049	\N	\N	EFO	2	EFO	genetic disorder	Primary ciliary dyskinesia - retinitis pigmentosa
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	572050	\N	\N	EFO	2	EFO	genetic disorder	Primary ciliary dyskinesia - retinitis pigmentosa
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	572051	\N	\N	EFO	2	EFO	respiratory system disease	Primary ciliary dyskinesia - retinitis pigmentosa
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	572052	\N	\N	EFO	2	EFO	Retinal dystrophy	Primary ciliary dyskinesia - retinitis pigmentosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	4394587	\N	\N	EFO	6	EFO	disease	Primary ciliary dyskinesia - retinitis pigmentosa
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	1154389	\N	\N	EFO	3	EFO	disease	Primary ciliary dyskinesia - retinitis pigmentosa
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	1154390	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Primary ciliary dyskinesia - retinitis pigmentosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	5028425	\N	\N	EFO	7	EFO	disposition	Primary ciliary dyskinesia - retinitis pigmentosa
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	2037044	\N	\N	EFO	4	EFO	Rare genetic eye disease	Primary ciliary dyskinesia - retinitis pigmentosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	5817608	\N	\N	EFO	8	EFO	material property	Primary ciliary dyskinesia - retinitis pigmentosa
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	3187385	\N	\N	EFO	5	EFO	genetic disorder	Primary ciliary dyskinesia - retinitis pigmentosa
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	3187386	\N	\N	EFO	5	EFO	eye disease	Primary ciliary dyskinesia - retinitis pigmentosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	6410000	\N	\N	EFO	9	EFO	experimental factor	Primary ciliary dyskinesia - retinitis pigmentosa
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247522	"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." []	4394588	\N	\N	EFO	6	EFO	disease	Primary ciliary dyskinesia - retinitis pigmentosa
Orphanet:247525	\N	\N	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	Orphanet:247525	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	74988	\N	\N	EFO	0	EFO	Citrullinemia type I	Citrullinemia type I
Orphanet:187	Orphanet:247525	\N	"" []	Orphanet:247525	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	217318	\N	\N	EFO	1	EFO	Citrullinemia	Citrullinemia type I
Orphanet:79167	Orphanet:187	\N	"" []	Orphanet:247525	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	572053	\N	\N	EFO	2	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Citrullinemia type I
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:247525	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	1154391	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Citrullinemia type I
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:247525	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	2037045	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Citrullinemia type I
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247525	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	3187387	\N	\N	EFO	5	EFO	genetic disorder	Citrullinemia type I
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:247525	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	3187388	\N	\N	EFO	5	EFO	metabolic disease	Citrullinemia type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247525	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	4394589	\N	\N	EFO	6	EFO	disease	Citrullinemia type I
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247525	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	4394590	\N	\N	EFO	6	EFO	disease	Citrullinemia type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247525	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	5412743	\N	\N	EFO	7	EFO	disposition	Citrullinemia type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247525	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	6149484	\N	\N	EFO	8	EFO	material property	Citrullinemia type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247525	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	6632647	\N	\N	EFO	9	EFO	experimental factor	Citrullinemia type I
Orphanet:247546	\N	\N	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	74989	\N	\N	EFO	0	EFO	Acute neonatal citrullinemia type I	Acute neonatal citrullinemia type I
Orphanet:247525	Orphanet:247546	\N	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	217319	\N	\N	EFO	1	EFO	Citrullinemia type I	Acute neonatal citrullinemia type I
Orphanet:187	Orphanet:247525	\N	"" []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	572054	\N	\N	EFO	2	EFO	Citrullinemia	Acute neonatal citrullinemia type I
Orphanet:79167	Orphanet:187	\N	"" []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	1154392	\N	\N	EFO	3	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Acute neonatal citrullinemia type I
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	2037046	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Acute neonatal citrullinemia type I
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	3187389	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Acute neonatal citrullinemia type I
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	4394591	\N	\N	EFO	6	EFO	genetic disorder	Acute neonatal citrullinemia type I
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	4394592	\N	\N	EFO	6	EFO	metabolic disease	Acute neonatal citrullinemia type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	5412744	\N	\N	EFO	7	EFO	disease	Acute neonatal citrullinemia type I
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	5412745	\N	\N	EFO	7	EFO	disease	Acute neonatal citrullinemia type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	6149485	\N	\N	EFO	8	EFO	disposition	Acute neonatal citrullinemia type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	6632648	\N	\N	EFO	9	EFO	material property	Acute neonatal citrullinemia type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247546	"Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." []	6925594	\N	\N	EFO	10	EFO	experimental factor	Acute neonatal citrullinemia type I
Orphanet:247573	\N	\N	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	74990	\N	\N	EFO	0	EFO	Adult-onset citrullinemia type I	Adult-onset citrullinemia type I
Orphanet:247525	Orphanet:247573	\N	"Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	217320	\N	\N	EFO	1	EFO	Citrullinemia type I	Adult-onset citrullinemia type I
Orphanet:187	Orphanet:247525	\N	"" []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	572055	\N	\N	EFO	2	EFO	Citrullinemia	Adult-onset citrullinemia type I
Orphanet:79167	Orphanet:187	\N	"" []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	1154393	\N	\N	EFO	3	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Adult-onset citrullinemia type I
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	2037047	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Adult-onset citrullinemia type I
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	3187390	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Adult-onset citrullinemia type I
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	4394593	\N	\N	EFO	6	EFO	genetic disorder	Adult-onset citrullinemia type I
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	4394594	\N	\N	EFO	6	EFO	metabolic disease	Adult-onset citrullinemia type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	5412746	\N	\N	EFO	7	EFO	disease	Adult-onset citrullinemia type I
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	5412747	\N	\N	EFO	7	EFO	disease	Adult-onset citrullinemia type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	6149486	\N	\N	EFO	8	EFO	disposition	Adult-onset citrullinemia type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	6632649	\N	\N	EFO	9	EFO	material property	Adult-onset citrullinemia type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247573	"Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." []	6925595	\N	\N	EFO	10	EFO	experimental factor	Adult-onset citrullinemia type I
Orphanet:247582	\N	\N	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	Orphanet:247582	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	74991	\N	\N	EFO	0	EFO	Citrin deficiency	Citrin deficiency
Orphanet:187	Orphanet:247582	\N	"" []	Orphanet:247582	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	217321	\N	\N	EFO	1	EFO	Citrullinemia	Citrin deficiency
Orphanet:79167	Orphanet:187	\N	"" []	Orphanet:247582	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	572056	\N	\N	EFO	2	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Citrin deficiency
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:247582	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	1154394	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Citrin deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:247582	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	2037048	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Citrin deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247582	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	3187391	\N	\N	EFO	5	EFO	genetic disorder	Citrin deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:247582	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	3187392	\N	\N	EFO	5	EFO	metabolic disease	Citrin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247582	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	4394595	\N	\N	EFO	6	EFO	disease	Citrin deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247582	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	4394596	\N	\N	EFO	6	EFO	disease	Citrin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247582	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	5412748	\N	\N	EFO	7	EFO	disposition	Citrin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247582	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	6149487	\N	\N	EFO	8	EFO	material property	Citrin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247582	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	6632650	\N	\N	EFO	9	EFO	experimental factor	Citrin deficiency
Orphanet:247585	\N	\N	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	74992	\N	\N	EFO	0	EFO	Citrullinemia type II	Citrullinemia type II
Orphanet:247582	Orphanet:247585	\N	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	217322	\N	\N	EFO	1	EFO	Citrin deficiency	Citrullinemia type II
Orphanet:187	Orphanet:247582	\N	"" []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	572057	\N	\N	EFO	2	EFO	Citrullinemia	Citrullinemia type II
Orphanet:79167	Orphanet:187	\N	"" []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	1154395	\N	\N	EFO	3	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Citrullinemia type II
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	2037049	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Citrullinemia type II
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	3187393	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Citrullinemia type II
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	4394597	\N	\N	EFO	6	EFO	genetic disorder	Citrullinemia type II
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	4394598	\N	\N	EFO	6	EFO	metabolic disease	Citrullinemia type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	5412749	\N	\N	EFO	7	EFO	disease	Citrullinemia type II
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	5412750	\N	\N	EFO	7	EFO	disease	Citrullinemia type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	6149488	\N	\N	EFO	8	EFO	disposition	Citrullinemia type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	6632651	\N	\N	EFO	9	EFO	material property	Citrullinemia type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247585	"Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." []	6925596	\N	\N	EFO	10	EFO	experimental factor	Citrullinemia type II
Orphanet:247598	\N	\N	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	74993	\N	\N	EFO	0	EFO	Neonatal intrahepatic cholestasis due to citrin deficiency	Neonatal intrahepatic cholestasis due to citrin deficiency
Orphanet:247582	Orphanet:247598	\N	"Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	217323	\N	\N	EFO	1	EFO	Citrin deficiency	Neonatal intrahepatic cholestasis due to citrin deficiency
Orphanet:187	Orphanet:247582	\N	"" []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	572058	\N	\N	EFO	2	EFO	Citrullinemia	Neonatal intrahepatic cholestasis due to citrin deficiency
Orphanet:79167	Orphanet:187	\N	"" []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	1154396	\N	\N	EFO	3	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Neonatal intrahepatic cholestasis due to citrin deficiency
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	2037050	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Neonatal intrahepatic cholestasis due to citrin deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	3187394	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Neonatal intrahepatic cholestasis due to citrin deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	4394599	\N	\N	EFO	6	EFO	genetic disorder	Neonatal intrahepatic cholestasis due to citrin deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	4394600	\N	\N	EFO	6	EFO	metabolic disease	Neonatal intrahepatic cholestasis due to citrin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	5412751	\N	\N	EFO	7	EFO	disease	Neonatal intrahepatic cholestasis due to citrin deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	5412752	\N	\N	EFO	7	EFO	disease	Neonatal intrahepatic cholestasis due to citrin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	6149489	\N	\N	EFO	8	EFO	disposition	Neonatal intrahepatic cholestasis due to citrin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	6632652	\N	\N	EFO	9	EFO	material property	Neonatal intrahepatic cholestasis due to citrin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247598	"Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." []	6925597	\N	\N	EFO	10	EFO	experimental factor	Neonatal intrahepatic cholestasis due to citrin deficiency
Orphanet:2476	\N	\N	"" []	Orphanet:2476	"" []	74994	\N	\N	EFO	0	EFO	Medeira-Dennis-Donnai syndrome	Medeira-Dennis-Donnai syndrome
Orphanet:139039	Orphanet:2476	\N	"" []	Orphanet:2476	"" []	217324	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Medeira-Dennis-Donnai syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2476	"" []	572059	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Medeira-Dennis-Donnai syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2476	"" []	1154397	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Medeira-Dennis-Donnai syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2476	"" []	2037051	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Medeira-Dennis-Donnai syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2476	"" []	3187395	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Medeira-Dennis-Donnai syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2476	"" []	4394601	\N	\N	EFO	6	EFO	genetic disorder	Medeira-Dennis-Donnai syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2476	"" []	5412753	\N	\N	EFO	7	EFO	disease	Medeira-Dennis-Donnai syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2476	"" []	6149490	\N	\N	EFO	8	EFO	disposition	Medeira-Dennis-Donnai syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2476	"" []	6632653	\N	\N	EFO	9	EFO	material property	Medeira-Dennis-Donnai syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2476	"" []	6925598	\N	\N	EFO	10	EFO	experimental factor	Medeira-Dennis-Donnai syndrome
Orphanet:247604	\N	\N	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	Orphanet:247604	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	74995	\N	\N	EFO	0	EFO	Juvenile primary lateral sclerosis	Juvenile primary lateral sclerosis
Orphanet:98505	Orphanet:247604	\N	"" []	Orphanet:247604	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	217325	\N	\N	EFO	1	EFO	Genetic motor neuron disease	Juvenile primary lateral sclerosis
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:247604	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	572060	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Juvenile primary lateral sclerosis
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:247604	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	1154398	\N	\N	EFO	3	EFO	muscular disease	Juvenile primary lateral sclerosis
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:247604	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	1154399	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Juvenile primary lateral sclerosis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:247604	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	2037052	\N	\N	EFO	4	EFO	skeletal system disease	Juvenile primary lateral sclerosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247604	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	2037053	\N	\N	EFO	4	EFO	genetic disorder	Juvenile primary lateral sclerosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247604	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	3187396	\N	\N	EFO	5	EFO	disease	Juvenile primary lateral sclerosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247604	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	3187397	\N	\N	EFO	5	EFO	disease	Juvenile primary lateral sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247604	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	4394602	\N	\N	EFO	6	EFO	disposition	Juvenile primary lateral sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247604	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	5412754	\N	\N	EFO	7	EFO	material property	Juvenile primary lateral sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247604	"Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." []	6149491	\N	\N	EFO	8	EFO	experimental factor	Juvenile primary lateral sclerosis
Orphanet:247623	\N	\N	"" []	Orphanet:247623	"" []	74996	\N	\N	EFO	0	EFO	Perinatal lethal hypophosphatasia	Perinatal lethal hypophosphatasia
Orphanet:436	Orphanet:247623	\N	"" []	Orphanet:247623	"" []	217326	\N	\N	EFO	1	EFO	Hypophosphatasia	Perinatal lethal hypophosphatasia
Orphanet:139009	Orphanet:436	\N	"" []	Orphanet:247623	"" []	572061	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Perinatal lethal hypophosphatasia
Orphanet:93447	Orphanet:436	\N	"" []	Orphanet:247623	"" []	572062	\N	\N	EFO	2	EFO	Primary bone dysplasia with defective bone mineralization	Perinatal lethal hypophosphatasia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:247623	"" []	1154400	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Perinatal lethal hypophosphatasia
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:247623	"" []	1154401	\N	\N	EFO	3	EFO	Primary bone dysplasia	Perinatal lethal hypophosphatasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247623	"" []	4394606	\N	\N	EFO	6	EFO	genetic disorder	Perinatal lethal hypophosphatasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:247623	"" []	2037055	\N	\N	EFO	4	EFO	Rare genetic bone disease	Perinatal lethal hypophosphatasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:247623	"" []	2037056	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Perinatal lethal hypophosphatasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247623	"" []	5059819	\N	\N	EFO	7	EFO	disease	Perinatal lethal hypophosphatasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247623	"" []	3187399	\N	\N	EFO	5	EFO	genetic disorder	Perinatal lethal hypophosphatasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:247623	"" []	3187400	\N	\N	EFO	5	EFO	bone disease	Perinatal lethal hypophosphatasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:247623	"" []	3187401	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Perinatal lethal hypophosphatasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247623	"" []	5877076	\N	\N	EFO	8	EFO	disposition	Perinatal lethal hypophosphatasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:247623	"" []	4394605	\N	\N	EFO	6	EFO	skeletal system disease	Perinatal lethal hypophosphatasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247623	"" []	6470298	\N	\N	EFO	9	EFO	material property	Perinatal lethal hypophosphatasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247623	"" []	5412756	\N	\N	EFO	7	EFO	disease	Perinatal lethal hypophosphatasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247623	"" []	6848452	\N	\N	EFO	10	EFO	experimental factor	Perinatal lethal hypophosphatasia
Orphanet:247638	\N	\N	"" []	Orphanet:247638	"" []	74997	\N	\N	EFO	0	EFO	Prenatal benign hypophosphatasia	Prenatal benign hypophosphatasia
Orphanet:436	Orphanet:247638	\N	"" []	Orphanet:247638	"" []	217327	\N	\N	EFO	1	EFO	Hypophosphatasia	Prenatal benign hypophosphatasia
Orphanet:139009	Orphanet:436	\N	"" []	Orphanet:247638	"" []	572063	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Prenatal benign hypophosphatasia
Orphanet:93447	Orphanet:436	\N	"" []	Orphanet:247638	"" []	572064	\N	\N	EFO	2	EFO	Primary bone dysplasia with defective bone mineralization	Prenatal benign hypophosphatasia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:247638	"" []	1154402	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Prenatal benign hypophosphatasia
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:247638	"" []	1154403	\N	\N	EFO	3	EFO	Primary bone dysplasia	Prenatal benign hypophosphatasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247638	"" []	4394610	\N	\N	EFO	6	EFO	genetic disorder	Prenatal benign hypophosphatasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:247638	"" []	2037058	\N	\N	EFO	4	EFO	Rare genetic bone disease	Prenatal benign hypophosphatasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:247638	"" []	2037059	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Prenatal benign hypophosphatasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247638	"" []	5059820	\N	\N	EFO	7	EFO	disease	Prenatal benign hypophosphatasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247638	"" []	3187403	\N	\N	EFO	5	EFO	genetic disorder	Prenatal benign hypophosphatasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:247638	"" []	3187404	\N	\N	EFO	5	EFO	bone disease	Prenatal benign hypophosphatasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:247638	"" []	3187405	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Prenatal benign hypophosphatasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247638	"" []	5877077	\N	\N	EFO	8	EFO	disposition	Prenatal benign hypophosphatasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:247638	"" []	4394609	\N	\N	EFO	6	EFO	skeletal system disease	Prenatal benign hypophosphatasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247638	"" []	6470299	\N	\N	EFO	9	EFO	material property	Prenatal benign hypophosphatasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247638	"" []	5412758	\N	\N	EFO	7	EFO	disease	Prenatal benign hypophosphatasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247638	"" []	6848453	\N	\N	EFO	10	EFO	experimental factor	Prenatal benign hypophosphatasia
Orphanet:247651	\N	\N	"" []	Orphanet:247651	"" []	74998	\N	\N	EFO	0	EFO	Infantile hypophosphatasia	Infantile hypophosphatasia
Orphanet:436	Orphanet:247651	\N	"" []	Orphanet:247651	"" []	217328	\N	\N	EFO	1	EFO	Hypophosphatasia	Infantile hypophosphatasia
Orphanet:139009	Orphanet:436	\N	"" []	Orphanet:247651	"" []	572065	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Infantile hypophosphatasia
Orphanet:93447	Orphanet:436	\N	"" []	Orphanet:247651	"" []	572066	\N	\N	EFO	2	EFO	Primary bone dysplasia with defective bone mineralization	Infantile hypophosphatasia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:247651	"" []	1154404	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Infantile hypophosphatasia
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:247651	"" []	1154405	\N	\N	EFO	3	EFO	Primary bone dysplasia	Infantile hypophosphatasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247651	"" []	4394614	\N	\N	EFO	6	EFO	genetic disorder	Infantile hypophosphatasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:247651	"" []	2037061	\N	\N	EFO	4	EFO	Rare genetic bone disease	Infantile hypophosphatasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:247651	"" []	2037062	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Infantile hypophosphatasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247651	"" []	5059821	\N	\N	EFO	7	EFO	disease	Infantile hypophosphatasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247651	"" []	3187407	\N	\N	EFO	5	EFO	genetic disorder	Infantile hypophosphatasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:247651	"" []	3187408	\N	\N	EFO	5	EFO	bone disease	Infantile hypophosphatasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:247651	"" []	3187409	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Infantile hypophosphatasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247651	"" []	5877078	\N	\N	EFO	8	EFO	disposition	Infantile hypophosphatasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:247651	"" []	4394613	\N	\N	EFO	6	EFO	skeletal system disease	Infantile hypophosphatasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247651	"" []	6470300	\N	\N	EFO	9	EFO	material property	Infantile hypophosphatasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247651	"" []	5412760	\N	\N	EFO	7	EFO	disease	Infantile hypophosphatasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247651	"" []	6848454	\N	\N	EFO	10	EFO	experimental factor	Infantile hypophosphatasia
Orphanet:247667	\N	\N	"" []	Orphanet:247667	"" []	74999	\N	\N	EFO	0	EFO	Childhood-onset hypophosphatasia	Childhood-onset hypophosphatasia
Orphanet:436	Orphanet:247667	\N	"" []	Orphanet:247667	"" []	217329	\N	\N	EFO	1	EFO	Hypophosphatasia	Childhood-onset hypophosphatasia
Orphanet:139009	Orphanet:436	\N	"" []	Orphanet:247667	"" []	572067	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Childhood-onset hypophosphatasia
Orphanet:93447	Orphanet:436	\N	"" []	Orphanet:247667	"" []	572068	\N	\N	EFO	2	EFO	Primary bone dysplasia with defective bone mineralization	Childhood-onset hypophosphatasia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:247667	"" []	1154406	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Childhood-onset hypophosphatasia
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:247667	"" []	1154407	\N	\N	EFO	3	EFO	Primary bone dysplasia	Childhood-onset hypophosphatasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247667	"" []	4394618	\N	\N	EFO	6	EFO	genetic disorder	Childhood-onset hypophosphatasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:247667	"" []	2037064	\N	\N	EFO	4	EFO	Rare genetic bone disease	Childhood-onset hypophosphatasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:247667	"" []	2037065	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Childhood-onset hypophosphatasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247667	"" []	5059822	\N	\N	EFO	7	EFO	disease	Childhood-onset hypophosphatasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247667	"" []	3187411	\N	\N	EFO	5	EFO	genetic disorder	Childhood-onset hypophosphatasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:247667	"" []	3187412	\N	\N	EFO	5	EFO	bone disease	Childhood-onset hypophosphatasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:247667	"" []	3187413	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Childhood-onset hypophosphatasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247667	"" []	5877079	\N	\N	EFO	8	EFO	disposition	Childhood-onset hypophosphatasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:247667	"" []	4394617	\N	\N	EFO	6	EFO	skeletal system disease	Childhood-onset hypophosphatasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247667	"" []	6470301	\N	\N	EFO	9	EFO	material property	Childhood-onset hypophosphatasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247667	"" []	5412762	\N	\N	EFO	7	EFO	disease	Childhood-onset hypophosphatasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247667	"" []	6848455	\N	\N	EFO	10	EFO	experimental factor	Childhood-onset hypophosphatasia
Orphanet:247676	\N	\N	"" []	Orphanet:247676	"" []	75000	\N	\N	EFO	0	EFO	Adult hypophosphatasia	Adult hypophosphatasia
Orphanet:436	Orphanet:247676	\N	"" []	Orphanet:247676	"" []	217330	\N	\N	EFO	1	EFO	Hypophosphatasia	Adult hypophosphatasia
Orphanet:139009	Orphanet:436	\N	"" []	Orphanet:247676	"" []	572069	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Adult hypophosphatasia
Orphanet:93447	Orphanet:436	\N	"" []	Orphanet:247676	"" []	572070	\N	\N	EFO	2	EFO	Primary bone dysplasia with defective bone mineralization	Adult hypophosphatasia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:247676	"" []	1154408	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Adult hypophosphatasia
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:247676	"" []	1154409	\N	\N	EFO	3	EFO	Primary bone dysplasia	Adult hypophosphatasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247676	"" []	4394622	\N	\N	EFO	6	EFO	genetic disorder	Adult hypophosphatasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:247676	"" []	2037067	\N	\N	EFO	4	EFO	Rare genetic bone disease	Adult hypophosphatasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:247676	"" []	2037068	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Adult hypophosphatasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247676	"" []	5059823	\N	\N	EFO	7	EFO	disease	Adult hypophosphatasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247676	"" []	3187415	\N	\N	EFO	5	EFO	genetic disorder	Adult hypophosphatasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:247676	"" []	3187416	\N	\N	EFO	5	EFO	bone disease	Adult hypophosphatasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:247676	"" []	3187417	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Adult hypophosphatasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247676	"" []	5877080	\N	\N	EFO	8	EFO	disposition	Adult hypophosphatasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:247676	"" []	4394621	\N	\N	EFO	6	EFO	skeletal system disease	Adult hypophosphatasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247676	"" []	6470302	\N	\N	EFO	9	EFO	material property	Adult hypophosphatasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247676	"" []	5412764	\N	\N	EFO	7	EFO	disease	Adult hypophosphatasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247676	"" []	6848456	\N	\N	EFO	10	EFO	experimental factor	Adult hypophosphatasia
Orphanet:247685	\N	\N	"" []	Orphanet:247685	"" []	75001	\N	\N	EFO	0	EFO	Odontohypophosphatasia	Odontohypophosphatasia
Orphanet:436	Orphanet:247685	\N	"" []	Orphanet:247685	"" []	217331	\N	\N	EFO	1	EFO	Hypophosphatasia	Odontohypophosphatasia
Orphanet:139009	Orphanet:436	\N	"" []	Orphanet:247685	"" []	572071	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Odontohypophosphatasia
Orphanet:93447	Orphanet:436	\N	"" []	Orphanet:247685	"" []	572072	\N	\N	EFO	2	EFO	Primary bone dysplasia with defective bone mineralization	Odontohypophosphatasia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:247685	"" []	1154410	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Odontohypophosphatasia
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:247685	"" []	1154411	\N	\N	EFO	3	EFO	Primary bone dysplasia	Odontohypophosphatasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247685	"" []	4394626	\N	\N	EFO	6	EFO	genetic disorder	Odontohypophosphatasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:247685	"" []	2037070	\N	\N	EFO	4	EFO	Rare genetic bone disease	Odontohypophosphatasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:247685	"" []	2037071	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Odontohypophosphatasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247685	"" []	5059824	\N	\N	EFO	7	EFO	disease	Odontohypophosphatasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247685	"" []	3187419	\N	\N	EFO	5	EFO	genetic disorder	Odontohypophosphatasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:247685	"" []	3187420	\N	\N	EFO	5	EFO	bone disease	Odontohypophosphatasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:247685	"" []	3187421	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Odontohypophosphatasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247685	"" []	5877081	\N	\N	EFO	8	EFO	disposition	Odontohypophosphatasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:247685	"" []	4394625	\N	\N	EFO	6	EFO	skeletal system disease	Odontohypophosphatasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247685	"" []	6470303	\N	\N	EFO	9	EFO	material property	Odontohypophosphatasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247685	"" []	5412766	\N	\N	EFO	7	EFO	disease	Odontohypophosphatasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247685	"" []	6848457	\N	\N	EFO	10	EFO	experimental factor	Odontohypophosphatasia
Orphanet:247691	\N	\N	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	75002	\N	\N	EFO	0	EFO	Retinal vasculopathy and cerebral leukodystrophy	Retinal vasculopathy and cerebral leukodystrophy
Orphanet:183503	Orphanet:247691	\N	"" []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	217332	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Retinal vasculopathy and cerebral leukodystrophy
Orphanet:71862	Orphanet:247691	\N	"" []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	217333	\N	\N	EFO	1	EFO	Retinal dystrophy	Retinal vasculopathy and cerebral leukodystrophy
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	572073	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Retinal vasculopathy and cerebral leukodystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	572074	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Retinal vasculopathy and cerebral leukodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	1154412	\N	\N	EFO	3	EFO	genetic disorder	Retinal vasculopathy and cerebral leukodystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	1154413	\N	\N	EFO	3	EFO	Rare genetic eye disease	Retinal vasculopathy and cerebral leukodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	3187423	\N	\N	EFO	5	EFO	disease	Retinal vasculopathy and cerebral leukodystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	2037073	\N	\N	EFO	4	EFO	genetic disorder	Retinal vasculopathy and cerebral leukodystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	2037074	\N	\N	EFO	4	EFO	eye disease	Retinal vasculopathy and cerebral leukodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	4133651	\N	\N	EFO	6	EFO	disposition	Retinal vasculopathy and cerebral leukodystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	3187424	\N	\N	EFO	5	EFO	disease	Retinal vasculopathy and cerebral leukodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	5182164	\N	\N	EFO	7	EFO	material property	Retinal vasculopathy and cerebral leukodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247691	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	5997525	\N	\N	EFO	8	EFO	experimental factor	Retinal vasculopathy and cerebral leukodystrophy
Orphanet:247698	\N	\N	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	75003	\N	\N	EFO	0	EFO	Multiple endocrine neoplasia type 2A	Multiple endocrine neoplasia type 2A
Orphanet:653	Orphanet:247698	\N	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	217334	\N	\N	EFO	1	EFO	Multiple endocrine neoplasia type 2	Multiple endocrine neoplasia type 2A
Orphanet:140162	Orphanet:653	\N	"" []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	572075	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Multiple endocrine neoplasia type 2A
Orphanet:276161	Orphanet:653	\N	"" []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	572076	\N	\N	EFO	2	EFO	Multiple endocrine neoplasia	Multiple endocrine neoplasia type 2A
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	1154414	\N	\N	EFO	3	EFO	genetic disorder	Multiple endocrine neoplasia type 2A
Orphanet:100094	Orphanet:276161	\N	"" []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	1154415	\N	\N	EFO	3	EFO	Multiple polyglandular tumor	Multiple endocrine neoplasia type 2A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	5412769	\N	\N	EFO	7	EFO	disease	Multiple endocrine neoplasia type 2A
Orphanet:183643	Orphanet:100094	\N	"" []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	2037076	\N	\N	EFO	4	EFO	Genetic polyendocrinopathy	Multiple endocrine neoplasia type 2A
Orphanet:271847	Orphanet:100094	\N	"" []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	2037077	\N	\N	EFO	4	EFO	Genetic endocrine tumor	Multiple endocrine neoplasia type 2A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	5817609	\N	\N	EFO	8	EFO	disposition	Multiple endocrine neoplasia type 2A
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	3187426	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Multiple endocrine neoplasia type 2A
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	3187427	\N	\N	EFO	5	EFO	endocrine neoplasm	Multiple endocrine neoplasia type 2A
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	3187428	\N	\N	EFO	5	EFO	Rare genetic tumor	Multiple endocrine neoplasia type 2A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	6410001	\N	\N	EFO	9	EFO	material property	Multiple endocrine neoplasia type 2A
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	4394629	\N	\N	EFO	6	EFO	genetic disorder	Multiple endocrine neoplasia type 2A
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	4394630	\N	\N	EFO	6	EFO	endocrine system disease	Multiple endocrine neoplasia type 2A
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	4394631	\N	\N	EFO	6	EFO	neoplasm	Multiple endocrine neoplasia type 2A
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	4394632	\N	\N	EFO	6	EFO	endocrine system disease	Multiple endocrine neoplasia type 2A
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	4394633	\N	\N	EFO	6	EFO	genetic disorder	Multiple endocrine neoplasia type 2A
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	4394634	\N	\N	EFO	6	EFO	neoplasm	Multiple endocrine neoplasia type 2A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	6807850	\N	\N	EFO	10	EFO	experimental factor	Multiple endocrine neoplasia type 2A
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	5412770	\N	\N	EFO	7	EFO	disease	Multiple endocrine neoplasia type 2A
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247698	"Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." []	5412771	\N	\N	EFO	7	EFO	disease	Multiple endocrine neoplasia type 2A
Orphanet:247709	\N	\N	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	75004	\N	\N	EFO	0	EFO	Multiple endocrine neoplasia type 2B	Multiple endocrine neoplasia type 2B
Orphanet:653	Orphanet:247709	\N	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	217335	\N	\N	EFO	1	EFO	Multiple endocrine neoplasia type 2	Multiple endocrine neoplasia type 2B
Orphanet:140162	Orphanet:653	\N	"" []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	572077	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Multiple endocrine neoplasia type 2B
Orphanet:276161	Orphanet:653	\N	"" []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	572078	\N	\N	EFO	2	EFO	Multiple endocrine neoplasia	Multiple endocrine neoplasia type 2B
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	1154416	\N	\N	EFO	3	EFO	genetic disorder	Multiple endocrine neoplasia type 2B
Orphanet:100094	Orphanet:276161	\N	"" []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	1154417	\N	\N	EFO	3	EFO	Multiple polyglandular tumor	Multiple endocrine neoplasia type 2B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	5412773	\N	\N	EFO	7	EFO	disease	Multiple endocrine neoplasia type 2B
Orphanet:183643	Orphanet:100094	\N	"" []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	2037079	\N	\N	EFO	4	EFO	Genetic polyendocrinopathy	Multiple endocrine neoplasia type 2B
Orphanet:271847	Orphanet:100094	\N	"" []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	2037080	\N	\N	EFO	4	EFO	Genetic endocrine tumor	Multiple endocrine neoplasia type 2B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	5817610	\N	\N	EFO	8	EFO	disposition	Multiple endocrine neoplasia type 2B
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	3187430	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Multiple endocrine neoplasia type 2B
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	3187431	\N	\N	EFO	5	EFO	endocrine neoplasm	Multiple endocrine neoplasia type 2B
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	3187432	\N	\N	EFO	5	EFO	Rare genetic tumor	Multiple endocrine neoplasia type 2B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	6410002	\N	\N	EFO	9	EFO	material property	Multiple endocrine neoplasia type 2B
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	4394636	\N	\N	EFO	6	EFO	genetic disorder	Multiple endocrine neoplasia type 2B
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	4394637	\N	\N	EFO	6	EFO	endocrine system disease	Multiple endocrine neoplasia type 2B
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	4394638	\N	\N	EFO	6	EFO	neoplasm	Multiple endocrine neoplasia type 2B
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	4394639	\N	\N	EFO	6	EFO	endocrine system disease	Multiple endocrine neoplasia type 2B
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	4394640	\N	\N	EFO	6	EFO	genetic disorder	Multiple endocrine neoplasia type 2B
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	4394641	\N	\N	EFO	6	EFO	neoplasm	Multiple endocrine neoplasia type 2B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	6807851	\N	\N	EFO	10	EFO	experimental factor	Multiple endocrine neoplasia type 2B
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	5412774	\N	\N	EFO	7	EFO	disease	Multiple endocrine neoplasia type 2B
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247709	"Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." []	5412775	\N	\N	EFO	7	EFO	disease	Multiple endocrine neoplasia type 2B
Orphanet:247765	\N	\N	"" []	Orphanet:247765	"" []	75005	\N	\N	EFO	0	EFO	X-linked cerebellar ataxia	X-linked cerebellar ataxia
Orphanet:183518	Orphanet:247765	\N	"" []	Orphanet:247765	"" []	217336	\N	\N	EFO	1	EFO	Rare hereditary ataxia	X-linked cerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:247765	"" []	572079	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	X-linked cerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247765	"" []	1154418	\N	\N	EFO	3	EFO	genetic disorder	X-linked cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247765	"" []	2037081	\N	\N	EFO	4	EFO	disease	X-linked cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247765	"" []	3187433	\N	\N	EFO	5	EFO	disposition	X-linked cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247765	"" []	4394642	\N	\N	EFO	6	EFO	material property	X-linked cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247765	"" []	5412776	\N	\N	EFO	7	EFO	experimental factor	X-linked cerebellar ataxia
Orphanet:247768	\N	\N	"" []	Orphanet:247768	"" []	75006	\N	\N	EFO	0	EFO	Atypical Mayer-Rokitansky-Kster-Hauser syndrome	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:3109	Orphanet:247768	\N	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	Orphanet:247768	"" []	217337	\N	\N	EFO	1	EFO	Mayer-Rokitansky-Kster-Hauser syndrome	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:325109	Orphanet:247768	\N	"" []	Orphanet:247768	"" []	217338	\N	\N	EFO	1	EFO	Syndrome with 46,XX disorder of sex development	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:325638	Orphanet:247768	\N	"" []	Orphanet:247768	"" []	217339	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:180068	Orphanet:3109	\N	"" []	Orphanet:247768	"" []	572080	\N	\N	EFO	2	EFO	Partial bilateral aplasia of the Mllerian ducts	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:400025	Orphanet:3109	\N	"" []	Orphanet:247768	"" []	572081	\N	\N	EFO	2	EFO	Female infertility due to an implantation defect of genetic origin	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:93547	Orphanet:3109	\N	"" []	Orphanet:247768	"" []	572082	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:325697	Orphanet:325109	\N	"" []	Orphanet:247768	"" []	572083	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:247768	"" []	572084	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:73217	Orphanet:180068	\N	"" []	Orphanet:247768	"" []	1154419	\N	\N	EFO	3	EFO	Mllerian aplasia	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:400008	Orphanet:400025	\N	"" []	Orphanet:247768	"" []	1154420	\N	\N	EFO	3	EFO	Rare genetic female infertility	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:247768	"" []	1154421	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:247768	"" []	1154422	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:247768	"" []	1154423	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:156622	Orphanet:73217	\N	"" []	Orphanet:247768	"" []	2037082	\N	\N	EFO	4	EFO	Genetic urogenital tract malformation	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:183731	Orphanet:73217	\N	"" []	Orphanet:247768	"" []	2037083	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:247768	"" []	2037084	\N	\N	EFO	4	EFO	Genetic infertility	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:247768	"" []	2037085	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:247768	"" []	2037086	\N	\N	EFO	4	EFO	Rare genetic renal disease	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:247768	"" []	2037087	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:247768	"" []	2037088	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:247768	"" []	2037089	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247768	"" []	3187435	\N	\N	EFO	5	EFO	genetic disorder	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:247768	"" []	3187436	\N	\N	EFO	5	EFO	reproductive system disease	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:247768	"" []	3187434	\N	\N	EFO	5	EFO	Rare genetic urogenital disease	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247768	"" []	3187437	\N	\N	EFO	5	EFO	genetic disorder	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:247768	"" []	3187438	\N	\N	EFO	5	EFO	reproductive system disease	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247768	"" []	3187439	\N	\N	EFO	5	EFO	genetic disorder	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247768	"" []	3187440	\N	\N	EFO	5	EFO	genetic disorder	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247768	"" []	4394643	\N	\N	EFO	6	EFO	genetic disorder	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247768	"" []	3187442	\N	\N	EFO	5	EFO	genetic disorder	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:247768	"" []	3187443	\N	\N	EFO	5	EFO	endocrine system disease	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247768	"" []	5182165	\N	\N	EFO	7	EFO	disease	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247768	"" []	4133653	\N	\N	EFO	6	EFO	disease	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247768	"" []	4394644	\N	\N	EFO	6	EFO	disease	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247768	"" []	5877082	\N	\N	EFO	8	EFO	disposition	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247768	"" []	6470304	\N	\N	EFO	9	EFO	material property	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247768	"" []	6848458	\N	\N	EFO	10	EFO	experimental factor	Atypical Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:247775	\N	\N	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	75007	\N	\N	EFO	0	EFO	Classic Mayer-Rokitansky-Kster-Hauser syndrome	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:3109	Orphanet:247775	\N	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	217340	\N	\N	EFO	1	EFO	Mayer-Rokitansky-Kster-Hauser syndrome	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:180068	Orphanet:3109	\N	"" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	572085	\N	\N	EFO	2	EFO	Partial bilateral aplasia of the Mllerian ducts	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:400025	Orphanet:3109	\N	"" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	572086	\N	\N	EFO	2	EFO	Female infertility due to an implantation defect of genetic origin	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:93547	Orphanet:3109	\N	"" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	572087	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:73217	Orphanet:180068	\N	"" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	1154424	\N	\N	EFO	3	EFO	Mllerian aplasia	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:400008	Orphanet:400025	\N	"" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	1154425	\N	\N	EFO	3	EFO	Rare genetic female infertility	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	1154426	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:156622	Orphanet:73217	\N	"" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	2037092	\N	\N	EFO	4	EFO	Genetic urogenital tract malformation	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:183731	Orphanet:73217	\N	"" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	2037093	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	2037094	\N	\N	EFO	4	EFO	Genetic infertility	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	2037095	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	2037096	\N	\N	EFO	4	EFO	Rare genetic renal disease	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	3187446	\N	\N	EFO	5	EFO	Rare genetic urogenital disease	Classic Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	3187447	\N	\N	EFO	5	EFO	genetic disorder	Classic Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	3187448	\N	\N	EFO	5	EFO	reproductive system disease	Classic Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	3187449	\N	\N	EFO	5	EFO	genetic disorder	Classic Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	3187450	\N	\N	EFO	5	EFO	reproductive system disease	Classic Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	3187451	\N	\N	EFO	5	EFO	genetic disorder	Classic Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	3187452	\N	\N	EFO	5	EFO	genetic disorder	Classic Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	4394646	\N	\N	EFO	6	EFO	genetic disorder	Classic Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	5412778	\N	\N	EFO	7	EFO	disease	Classic Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	4394648	\N	\N	EFO	6	EFO	disease	Classic Mayer-Rokitansky-Kster-Hauser syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	5997527	\N	\N	EFO	8	EFO	disposition	Classic Mayer-Rokitansky-Kster-Hauser syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	6550900	\N	\N	EFO	9	EFO	material property	Classic Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247775	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." []	6889165	\N	\N	EFO	10	EFO	experimental factor	Classic Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:247790	\N	\N	"" []	Orphanet:247790	"" []	75008	\N	\N	EFO	0	EFO	FTH1-related iron overload	FTH1-related iron overload
Orphanet:101940	Orphanet:247790	\N	"" []	Orphanet:247790	"" []	217341	\N	\N	EFO	1	EFO	Rare metabolic liver disease	FTH1-related iron overload
Orphanet:309842	Orphanet:247790	\N	"" []	Orphanet:247790	"" []	217342	\N	\N	EFO	1	EFO	Disorder of iron metabolism and transport	FTH1-related iron overload
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:247790	"" []	572088	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	FTH1-related iron overload
Orphanet:309836	Orphanet:309842	\N	"" []	Orphanet:247790	"" []	572089	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	FTH1-related iron overload
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:247790	"" []	1154427	\N	\N	EFO	3	EFO	digestive system disease	FTH1-related iron overload
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247790	"" []	1154428	\N	\N	EFO	3	EFO	genetic disorder	FTH1-related iron overload
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:247790	"" []	1154429	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	FTH1-related iron overload
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247790	"" []	2037097	\N	\N	EFO	4	EFO	disease	FTH1-related iron overload
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247790	"" []	4394650	\N	\N	EFO	6	EFO	disease	FTH1-related iron overload
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:247790	"" []	2037099	\N	\N	EFO	4	EFO	Inborn errors of metabolism	FTH1-related iron overload
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247790	"" []	5059825	\N	\N	EFO	7	EFO	disposition	FTH1-related iron overload
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247790	"" []	3187454	\N	\N	EFO	5	EFO	genetic disorder	FTH1-related iron overload
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:247790	"" []	3187455	\N	\N	EFO	5	EFO	metabolic disease	FTH1-related iron overload
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247790	"" []	5877083	\N	\N	EFO	8	EFO	material property	FTH1-related iron overload
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247790	"" []	4394651	\N	\N	EFO	6	EFO	disease	FTH1-related iron overload
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247790	"" []	6470305	\N	\N	EFO	9	EFO	experimental factor	FTH1-related iron overload
Orphanet:247794	\N	\N	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	75009	\N	\N	EFO	0	EFO	Juvenile cataract - microcornea - renal glucosuria	Juvenile cataract - microcornea - renal glucosuria
Orphanet:309001	Orphanet:247794	\N	"" []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	217343	\N	\N	EFO	1	EFO	Disorder of carbohydrate absorption and transport	Juvenile cataract - microcornea - renal glucosuria
Orphanet:93593	Orphanet:247794	\N	"" []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	217344	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Juvenile cataract - microcornea - renal glucosuria
Orphanet:98641	Orphanet:247794	\N	"" []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	217345	\N	\N	EFO	1	EFO	Syndromic cataract	Juvenile cataract - microcornea - renal glucosuria
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	572090	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Juvenile cataract - microcornea - renal glucosuria
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	572091	\N	\N	EFO	2	EFO	Rare genetic renal disease	Juvenile cataract - microcornea - renal glucosuria
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	572092	\N	\N	EFO	2	EFO	Rare cataract	Juvenile cataract - microcornea - renal glucosuria
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	1154430	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Juvenile cataract - microcornea - renal glucosuria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	1154431	\N	\N	EFO	3	EFO	genetic disorder	Juvenile cataract - microcornea - renal glucosuria
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	1154432	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Juvenile cataract - microcornea - renal glucosuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	2037100	\N	\N	EFO	4	EFO	genetic disorder	Juvenile cataract - microcornea - renal glucosuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	2037101	\N	\N	EFO	4	EFO	metabolic disease	Juvenile cataract - microcornea - renal glucosuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	4394653	\N	\N	EFO	6	EFO	disease	Juvenile cataract - microcornea - renal glucosuria
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	2037103	\N	\N	EFO	4	EFO	Rare genetic eye disease	Juvenile cataract - microcornea - renal glucosuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	3187457	\N	\N	EFO	5	EFO	disease	Juvenile cataract - microcornea - renal glucosuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	5059826	\N	\N	EFO	7	EFO	disposition	Juvenile cataract - microcornea - renal glucosuria
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	3187459	\N	\N	EFO	5	EFO	genetic disorder	Juvenile cataract - microcornea - renal glucosuria
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	3187460	\N	\N	EFO	5	EFO	eye disease	Juvenile cataract - microcornea - renal glucosuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	5877084	\N	\N	EFO	8	EFO	material property	Juvenile cataract - microcornea - renal glucosuria
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	4394654	\N	\N	EFO	6	EFO	disease	Juvenile cataract - microcornea - renal glucosuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247794	"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." []	6470306	\N	\N	EFO	9	EFO	experimental factor	Juvenile cataract - microcornea - renal glucosuria
Orphanet:247798	\N	\N	"" []	Orphanet:247798	"" []	75010	\N	\N	EFO	0	EFO	MUTYH-related attenuated familial adenomatous polyposis	MUTYH-related attenuated familial adenomatous polyposis
Orphanet:220460	Orphanet:247798	\N	"-related attenuated familial adenomatous polyposis." []	Orphanet:247798	"" []	217346	\N	\N	EFO	1	EFO	Attenuated familial adenomatous polyposis	MUTYH-related attenuated familial adenomatous polyposis
Orphanet:140162	Orphanet:220460	\N	"" []	Orphanet:247798	"" []	572093	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	MUTYH-related attenuated familial adenomatous polyposis
Orphanet:271835	Orphanet:220460	\N	"" []	Orphanet:247798	"" []	572094	\N	\N	EFO	2	EFO	Genetic digestive tract tumor	MUTYH-related attenuated familial adenomatous polyposis
Orphanet:363314	Orphanet:220460	\N	"" []	Orphanet:247798	"" []	572095	\N	\N	EFO	2	EFO	Genetic intestinal polyposis	MUTYH-related attenuated familial adenomatous polyposis
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247798	"" []	1154433	\N	\N	EFO	3	EFO	genetic disorder	MUTYH-related attenuated familial adenomatous polyposis
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:247798	"" []	1154434	\N	\N	EFO	3	EFO	digestive system disease	MUTYH-related attenuated familial adenomatous polyposis
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:247798	"" []	1154435	\N	\N	EFO	3	EFO	Rare genetic tumor	MUTYH-related attenuated familial adenomatous polyposis
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:247798	"" []	1154436	\N	\N	EFO	3	EFO	Genetic intestinal disease	MUTYH-related attenuated familial adenomatous polyposis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247798	"" []	4394656	\N	\N	EFO	6	EFO	disease	MUTYH-related attenuated familial adenomatous polyposis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247798	"" []	3187464	\N	\N	EFO	5	EFO	disease	MUTYH-related attenuated familial adenomatous polyposis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247798	"" []	2037106	\N	\N	EFO	4	EFO	genetic disorder	MUTYH-related attenuated familial adenomatous polyposis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:247798	"" []	2037107	\N	\N	EFO	4	EFO	neoplasm	MUTYH-related attenuated familial adenomatous polyposis
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:247798	"" []	2037108	\N	\N	EFO	4	EFO	digestive system disease	MUTYH-related attenuated familial adenomatous polyposis
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:247798	"" []	2037109	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	MUTYH-related attenuated familial adenomatous polyposis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247798	"" []	5059827	\N	\N	EFO	7	EFO	disposition	MUTYH-related attenuated familial adenomatous polyposis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247798	"" []	3187463	\N	\N	EFO	5	EFO	disease	MUTYH-related attenuated familial adenomatous polyposis
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247798	"" []	3187465	\N	\N	EFO	5	EFO	genetic disorder	MUTYH-related attenuated familial adenomatous polyposis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247798	"" []	5877085	\N	\N	EFO	8	EFO	material property	MUTYH-related attenuated familial adenomatous polyposis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247798	"" []	6470307	\N	\N	EFO	9	EFO	experimental factor	MUTYH-related attenuated familial adenomatous polyposis
Orphanet:2478	\N	\N	"Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." []	Orphanet:2478	"Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." []	75011	\N	\N	EFO	0	EFO	Megalencephalic leukoencephalopathy with subcortical cysts	Megalencephalic leukoencephalopathy with subcortical cysts
Orphanet:68356	Orphanet:2478	\N	"" []	Orphanet:2478	"Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." []	217347	\N	\N	EFO	1	EFO	Leukodystrophy	Megalencephalic leukoencephalopathy with subcortical cysts
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:2478	"Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." []	572096	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Megalencephalic leukoencephalopathy with subcortical cysts
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2478	"Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." []	1154437	\N	\N	EFO	3	EFO	genetic disorder	Megalencephalic leukoencephalopathy with subcortical cysts
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2478	"Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." []	2037110	\N	\N	EFO	4	EFO	disease	Megalencephalic leukoencephalopathy with subcortical cysts
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2478	"Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." []	3187466	\N	\N	EFO	5	EFO	disposition	Megalencephalic leukoencephalopathy with subcortical cysts
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2478	"Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." []	4394657	\N	\N	EFO	6	EFO	material property	Megalencephalic leukoencephalopathy with subcortical cysts
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2478	"Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." []	5412783	\N	\N	EFO	7	EFO	experimental factor	Megalencephalic leukoencephalopathy with subcortical cysts
Orphanet:247806	\N	\N	"" []	Orphanet:247806	"" []	75012	\N	\N	EFO	0	EFO	APC-related attenuated familial adenomatous polyposis	APC-related attenuated familial adenomatous polyposis
Orphanet:220460	Orphanet:247806	\N	"-related attenuated familial adenomatous polyposis." []	Orphanet:247806	"" []	217348	\N	\N	EFO	1	EFO	Attenuated familial adenomatous polyposis	APC-related attenuated familial adenomatous polyposis
Orphanet:140162	Orphanet:220460	\N	"" []	Orphanet:247806	"" []	572097	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	APC-related attenuated familial adenomatous polyposis
Orphanet:271835	Orphanet:220460	\N	"" []	Orphanet:247806	"" []	572098	\N	\N	EFO	2	EFO	Genetic digestive tract tumor	APC-related attenuated familial adenomatous polyposis
Orphanet:363314	Orphanet:220460	\N	"" []	Orphanet:247806	"" []	572099	\N	\N	EFO	2	EFO	Genetic intestinal polyposis	APC-related attenuated familial adenomatous polyposis
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247806	"" []	1154438	\N	\N	EFO	3	EFO	genetic disorder	APC-related attenuated familial adenomatous polyposis
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:247806	"" []	1154439	\N	\N	EFO	3	EFO	digestive system disease	APC-related attenuated familial adenomatous polyposis
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:247806	"" []	1154440	\N	\N	EFO	3	EFO	Rare genetic tumor	APC-related attenuated familial adenomatous polyposis
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:247806	"" []	1154441	\N	\N	EFO	3	EFO	Genetic intestinal disease	APC-related attenuated familial adenomatous polyposis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247806	"" []	4394659	\N	\N	EFO	6	EFO	disease	APC-related attenuated familial adenomatous polyposis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247806	"" []	3187470	\N	\N	EFO	5	EFO	disease	APC-related attenuated familial adenomatous polyposis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247806	"" []	2037113	\N	\N	EFO	4	EFO	genetic disorder	APC-related attenuated familial adenomatous polyposis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:247806	"" []	2037114	\N	\N	EFO	4	EFO	neoplasm	APC-related attenuated familial adenomatous polyposis
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:247806	"" []	2037115	\N	\N	EFO	4	EFO	digestive system disease	APC-related attenuated familial adenomatous polyposis
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:247806	"" []	2037116	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	APC-related attenuated familial adenomatous polyposis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247806	"" []	5059828	\N	\N	EFO	7	EFO	disposition	APC-related attenuated familial adenomatous polyposis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247806	"" []	3187469	\N	\N	EFO	5	EFO	disease	APC-related attenuated familial adenomatous polyposis
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247806	"" []	3187471	\N	\N	EFO	5	EFO	genetic disorder	APC-related attenuated familial adenomatous polyposis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247806	"" []	5877086	\N	\N	EFO	8	EFO	material property	APC-related attenuated familial adenomatous polyposis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247806	"" []	6470308	\N	\N	EFO	9	EFO	experimental factor	APC-related attenuated familial adenomatous polyposis
Orphanet:247815	\N	\N	"" []	Orphanet:247815	"" []	75013	\N	\N	EFO	0	EFO	Autosomal recessive ataxia due to PEX10 deficiency	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:98096	Orphanet:247815	\N	"" []	Orphanet:247815	"" []	217349	\N	\N	EFO	1	EFO	Autosomal recessive metabolic cerebellar ataxia	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:1172	Orphanet:98096	\N	"" []	Orphanet:247815	"" []	572100	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:247815	"" []	1154442	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:247815	"" []	1154443	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:247815	"" []	1154444	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:247815	"" []	2037117	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:247815	"" []	2037118	\N	\N	EFO	4	EFO	Ataxia with dementia	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:247815	"" []	2037119	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Autosomal recessive ataxia due to PEX10 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247815	"" []	6149502	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:247815	"" []	3187473	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:247815	"" []	3187474	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive ataxia due to PEX10 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247815	"" []	6410003	\N	\N	EFO	9	EFO	disease	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:247815	"" []	4394661	\N	\N	EFO	6	EFO	Genetic dementia	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:247815	"" []	4394662	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:247815	"" []	4394663	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive ataxia due to PEX10 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247815	"" []	6807852	\N	\N	EFO	10	EFO	disposition	Autosomal recessive ataxia due to PEX10 deficiency
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:247815	"" []	5412786	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:247815	"" []	5412787	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive ataxia due to PEX10 deficiency
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:247815	"" []	5412788	\N	\N	EFO	7	EFO	neurodegenerative disease	Autosomal recessive ataxia due to PEX10 deficiency
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:247815	"" []	5412789	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:247815	"" []	5412790	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive ataxia due to PEX10 deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247815	"" []	5412791	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive ataxia due to PEX10 deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:247815	"" []	5412792	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive ataxia due to PEX10 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247815	"" []	7048626	\N	\N	EFO	11	EFO	material property	Autosomal recessive ataxia due to PEX10 deficiency
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:247815	"" []	6149501	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive ataxia due to PEX10 deficiency
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:247815	"" []	6149503	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive ataxia due to PEX10 deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247815	"" []	6149505	\N	\N	EFO	8	EFO	disease	Autosomal recessive ataxia due to PEX10 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247815	"" []	7190213	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive ataxia due to PEX10 deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247815	"" []	6632656	\N	\N	EFO	9	EFO	disease	Autosomal recessive ataxia due to PEX10 deficiency
Orphanet:247820	\N	\N	"" []	Orphanet:247820	"" []	75014	\N	\N	EFO	0	EFO	Ectodermal dysplasia - syndactyly syndrome	Ectodermal dysplasia - syndactyly syndrome
Orphanet:294959	Orphanet:247820	\N	"" []	Orphanet:247820	"" []	217350	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Ectodermal dysplasia - syndactyly syndrome
Orphanet:79373	Orphanet:247820	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:247820	"" []	217351	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ectodermal dysplasia - syndactyly syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:247820	"" []	572101	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Ectodermal dysplasia - syndactyly syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:247820	"" []	572102	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Ectodermal dysplasia - syndactyly syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:247820	"" []	572103	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ectodermal dysplasia - syndactyly syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:247820	"" []	572104	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ectodermal dysplasia - syndactyly syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:247820	"" []	1154445	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Ectodermal dysplasia - syndactyly syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:247820	"" []	1154446	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Ectodermal dysplasia - syndactyly syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:247820	"" []	1154447	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia - syndactyly syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:247820	"" []	1154448	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ectodermal dysplasia - syndactyly syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:247820	"" []	2037120	\N	\N	EFO	4	EFO	Rare genetic bone disease	Ectodermal dysplasia - syndactyly syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:247820	"" []	2037121	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Ectodermal dysplasia - syndactyly syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:247820	"" []	2037122	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia - syndactyly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247820	"" []	4394665	\N	\N	EFO	6	EFO	genetic disorder	Ectodermal dysplasia - syndactyly syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247820	"" []	2037124	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia - syndactyly syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:247820	"" []	2037125	\N	\N	EFO	4	EFO	skin disease	Ectodermal dysplasia - syndactyly syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247820	"" []	3187475	\N	\N	EFO	5	EFO	genetic disorder	Ectodermal dysplasia - syndactyly syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:247820	"" []	3187476	\N	\N	EFO	5	EFO	bone disease	Ectodermal dysplasia - syndactyly syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:247820	"" []	3187477	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia - syndactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247820	"" []	5059829	\N	\N	EFO	7	EFO	disease	Ectodermal dysplasia - syndactyly syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247820	"" []	3187480	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia - syndactyly syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:247820	"" []	4394664	\N	\N	EFO	6	EFO	skeletal system disease	Ectodermal dysplasia - syndactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247820	"" []	5877087	\N	\N	EFO	8	EFO	disposition	Ectodermal dysplasia - syndactyly syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247820	"" []	5412793	\N	\N	EFO	7	EFO	disease	Ectodermal dysplasia - syndactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247820	"" []	6470310	\N	\N	EFO	9	EFO	material property	Ectodermal dysplasia - syndactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247820	"" []	6848460	\N	\N	EFO	10	EFO	experimental factor	Ectodermal dysplasia - syndactyly syndrome
Orphanet:247827	\N	\N	"" []	Orphanet:247827	"" []	75015	\N	\N	EFO	0	EFO	Ectodermal dysplasia - cutaneous syndactyly syndrome	Ectodermal dysplasia - cutaneous syndactyly syndrome
Orphanet:79373	Orphanet:247827	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:247827	"" []	217352	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ectodermal dysplasia - cutaneous syndactyly syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:247827	"" []	572105	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ectodermal dysplasia - cutaneous syndactyly syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:247827	"" []	572106	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ectodermal dysplasia - cutaneous syndactyly syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:247827	"" []	1154449	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia - cutaneous syndactyly syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:247827	"" []	1154450	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ectodermal dysplasia - cutaneous syndactyly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247827	"" []	2037126	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia - cutaneous syndactyly syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247827	"" []	2037127	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia - cutaneous syndactyly syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:247827	"" []	2037128	\N	\N	EFO	4	EFO	skin disease	Ectodermal dysplasia - cutaneous syndactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247827	"" []	3187481	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia - cutaneous syndactyly syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247827	"" []	3187482	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia - cutaneous syndactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247827	"" []	4394667	\N	\N	EFO	6	EFO	disposition	Ectodermal dysplasia - cutaneous syndactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247827	"" []	5412795	\N	\N	EFO	7	EFO	material property	Ectodermal dysplasia - cutaneous syndactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247827	"" []	6149507	\N	\N	EFO	8	EFO	experimental factor	Ectodermal dysplasia - cutaneous syndactyly syndrome
Orphanet:247834	\N	\N	"" []	Orphanet:247834	"" []	75016	\N	\N	EFO	0	EFO	Occult macular dystrophy	Occult macular dystrophy
Orphanet:98664	Orphanet:247834	\N	"" []	Orphanet:247834	"" []	217353	\N	\N	EFO	1	EFO	Genetic macular dystrophy	Occult macular dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:247834	"" []	572107	\N	\N	EFO	2	EFO	Retinal dystrophy	Occult macular dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:247834	"" []	1154451	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Occult macular dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:247834	"" []	2037129	\N	\N	EFO	4	EFO	Rare genetic eye disease	Occult macular dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247834	"" []	3187483	\N	\N	EFO	5	EFO	genetic disorder	Occult macular dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:247834	"" []	3187484	\N	\N	EFO	5	EFO	eye disease	Occult macular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247834	"" []	4394668	\N	\N	EFO	6	EFO	disease	Occult macular dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247834	"" []	4394669	\N	\N	EFO	6	EFO	disease	Occult macular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247834	"" []	5412796	\N	\N	EFO	7	EFO	disposition	Occult macular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247834	"" []	6149508	\N	\N	EFO	8	EFO	material property	Occult macular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247834	"" []	6632657	\N	\N	EFO	9	EFO	experimental factor	Occult macular dystrophy
Orphanet:247868	\N	\N	"" []	Orphanet:247868	"" []	75017	\N	\N	EFO	0	EFO	NLRP12-associated hereditary periodic fever syndrome	NLRP12-associated hereditary periodic fever syndrome
Orphanet:324924	Orphanet:247868	\N	"" []	Orphanet:247868	"" []	217354	\N	\N	EFO	1	EFO	Hereditary periodic fever syndrome	NLRP12-associated hereditary periodic fever syndrome
Orphanet:271870	Orphanet:324924	\N	"" []	Orphanet:247868	"" []	572108	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	NLRP12-associated hereditary periodic fever syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:247868	"" []	1154452	\N	\N	EFO	3	EFO	genetic disorder	NLRP12-associated hereditary periodic fever syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:247868	"" []	2037130	\N	\N	EFO	4	EFO	disease	NLRP12-associated hereditary periodic fever syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:247868	"" []	3187485	\N	\N	EFO	5	EFO	disposition	NLRP12-associated hereditary periodic fever syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:247868	"" []	4394670	\N	\N	EFO	6	EFO	material property	NLRP12-associated hereditary periodic fever syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:247868	"" []	5412797	\N	\N	EFO	7	EFO	experimental factor	NLRP12-associated hereditary periodic fever syndrome
Orphanet:2479	\N	\N	"" []	Orphanet:2479	"" []	75018	\N	\N	EFO	0	EFO	Megalocornea-intellectual disability syndrome	Megalocornea-intellectual disability syndrome
Orphanet:108987	Orphanet:2479	\N	"" []	Orphanet:2479	"" []	217355	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Megalocornea-intellectual disability syndrome
Orphanet:183763	Orphanet:2479	\N	"" []	Orphanet:2479	"" []	217356	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Megalocornea-intellectual disability syndrome
Orphanet:98638	Orphanet:2479	\N	"" []	Orphanet:2479	"" []	217357	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Megalocornea-intellectual disability syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2479	"" []	572109	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Megalocornea-intellectual disability syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2479	"" []	572110	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Megalocornea-intellectual disability syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:2479	"" []	572111	\N	\N	EFO	2	EFO	Rare genetic eye disease	Megalocornea-intellectual disability syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2479	"" []	1154453	\N	\N	EFO	3	EFO	Rare genetic eye disease	Megalocornea-intellectual disability syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2479	"" []	1154454	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Megalocornea-intellectual disability syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2479	"" []	1154455	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Megalocornea-intellectual disability syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2479	"" []	2037131	\N	\N	EFO	4	EFO	genetic disorder	Megalocornea-intellectual disability syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2479	"" []	2037132	\N	\N	EFO	4	EFO	eye disease	Megalocornea-intellectual disability syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2479	"" []	2037133	\N	\N	EFO	4	EFO	genetic disorder	Megalocornea-intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2479	"" []	2037134	\N	\N	EFO	4	EFO	genetic disorder	Megalocornea-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2479	"" []	3000240	\N	\N	EFO	5	EFO	disease	Megalocornea-intellectual disability syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2479	"" []	3000241	\N	\N	EFO	5	EFO	disease	Megalocornea-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2479	"" []	4133658	\N	\N	EFO	6	EFO	disposition	Megalocornea-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2479	"" []	5182171	\N	\N	EFO	7	EFO	material property	Megalocornea-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2479	"" []	5997532	\N	\N	EFO	8	EFO	experimental factor	Megalocornea-intellectual disability syndrome
Orphanet:248	\N	\N	"" []	Orphanet:248	"" []	75019	\N	\N	EFO	0	EFO	Autosomal recessive hypohidrotic ectodermal dysplasia	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:238468	Orphanet:248	\N	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	Orphanet:248	"" []	217358	\N	\N	EFO	1	EFO	Hypohidrotic ectodermal dysplasia	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0004198	Orphanet:238468	\N	"Tumors or cancer of the SKIN." []	Orphanet:248	"" []	572112	\N	\N	EFO	2	EFO	skin neoplasm	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:79373	Orphanet:238468	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:248	"" []	572113	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:98604	Orphanet:238468	\N	"" []	Orphanet:248	"" []	572114	\N	\N	EFO	2	EFO	Congenital alacrima	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:248	"" []	1154458	\N	\N	EFO	3	EFO	neoplasm	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:248	"" []	1154459	\N	\N	EFO	3	EFO	skin disease	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:248	"" []	1154460	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:248	"" []	1154461	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:98603	Orphanet:98604	\N	"" []	Orphanet:248	"" []	1154462	\N	\N	EFO	3	EFO	Secretory apparatus of the lacrimal system anomaly	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248	"" []	2037137	\N	\N	EFO	4	EFO	disease	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248	"" []	4394674	\N	\N	EFO	6	EFO	disease	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:248	"" []	2037139	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:248	"" []	2037140	\N	\N	EFO	4	EFO	Rare genetic skin disease	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:98602	Orphanet:98603	\N	"" []	Orphanet:248	"" []	2037141	\N	\N	EFO	4	EFO	Rare lacrimal system disease	Autosomal recessive hypohidrotic ectodermal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:248	"" []	6470312	\N	\N	EFO	9	EFO	disposition	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248	"" []	3187488	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248	"" []	3187489	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:248	"" []	3187490	\N	\N	EFO	5	EFO	skin disease	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:248	"" []	3187491	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Autosomal recessive hypohidrotic ectodermal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:248	"" []	6778676	\N	\N	EFO	10	EFO	material property	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248	"" []	6149509	\N	\N	EFO	8	EFO	disease	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:248	"" []	4394675	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:248	"" []	7029878	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248	"" []	5412800	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:248	"" []	5412801	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive hypohidrotic ectodermal dysplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248	"" []	6149510	\N	\N	EFO	8	EFO	disease	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:248095	\N	\N	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	75020	\N	\N	EFO	0	EFO	Primary hypertrophic osteoarthropathy	Primary hypertrophic osteoarthropathy
Orphanet:93444	Orphanet:248095	\N	"" []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	217359	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Primary hypertrophic osteoarthropathy
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	572115	\N	\N	EFO	2	EFO	Primary bone dysplasia	Primary hypertrophic osteoarthropathy
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	1154463	\N	\N	EFO	3	EFO	Rare genetic bone disease	Primary hypertrophic osteoarthropathy
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	1154464	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Primary hypertrophic osteoarthropathy
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	2037142	\N	\N	EFO	4	EFO	genetic disorder	Primary hypertrophic osteoarthropathy
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	2037143	\N	\N	EFO	4	EFO	bone disease	Primary hypertrophic osteoarthropathy
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	2037144	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Primary hypertrophic osteoarthropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	4394678	\N	\N	EFO	6	EFO	disease	Primary hypertrophic osteoarthropathy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	3187493	\N	\N	EFO	5	EFO	skeletal system disease	Primary hypertrophic osteoarthropathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	3187494	\N	\N	EFO	5	EFO	genetic disorder	Primary hypertrophic osteoarthropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	5182172	\N	\N	EFO	7	EFO	disposition	Primary hypertrophic osteoarthropathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	4394677	\N	\N	EFO	6	EFO	disease	Primary hypertrophic osteoarthropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	5997533	\N	\N	EFO	8	EFO	material property	Primary hypertrophic osteoarthropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:248095	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	6550902	\N	\N	EFO	9	EFO	experimental factor	Primary hypertrophic osteoarthropathy
Orphanet:248111	\N	\N	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	75021	\N	\N	EFO	0	EFO	Juvenile Huntington disease	Juvenile Huntington disease
Orphanet:276058	Orphanet:248111	\N	"" []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	217360	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease with dementia	Juvenile Huntington disease
Orphanet:306719	Orphanet:248111	\N	"" []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	217361	\N	\N	EFO	1	EFO	Neurodegenerative disease with chorea	Juvenile Huntington disease
Orphanet:98688	Orphanet:248111	\N	"" []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	217362	\N	\N	EFO	1	EFO	Oculomotor apraxia or related oculomotor disease	Juvenile Huntington disease
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	572116	\N	\N	EFO	2	EFO	Genetic dementia	Juvenile Huntington disease
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	572117	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Juvenile Huntington disease
EFO:0005772	Orphanet:306719	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	572118	\N	\N	EFO	2	EFO	neurodegenerative disease	Juvenile Huntington disease
Orphanet:183521	Orphanet:306719	\N	"" []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	572119	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Juvenile Huntington disease
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	572120	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Juvenile Huntington disease
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	1154465	\N	\N	EFO	3	EFO	brain disease	Juvenile Huntington disease
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	1154466	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Juvenile Huntington disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	1154467	\N	\N	EFO	3	EFO	neurodegenerative disease	Juvenile Huntington disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	1154468	\N	\N	EFO	3	EFO	brain disease	Juvenile Huntington disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	1154469	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Juvenile Huntington disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	2037147	\N	\N	EFO	4	EFO	nervous system disease	Juvenile Huntington disease
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	1154471	\N	\N	EFO	3	EFO	movement disorder	Juvenile Huntington disease
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	1154472	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Juvenile Huntington disease
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	1154473	\N	\N	EFO	3	EFO	Rare genetic eye disease	Juvenile Huntington disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	2037145	\N	\N	EFO	4	EFO	nervous system disease	Juvenile Huntington disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	2037146	\N	\N	EFO	4	EFO	genetic disorder	Juvenile Huntington disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	3000242	\N	\N	EFO	5	EFO	disease	Juvenile Huntington disease
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	2037149	\N	\N	EFO	4	EFO	nervous system disease	Juvenile Huntington disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	2037150	\N	\N	EFO	4	EFO	genetic disorder	Juvenile Huntington disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	2037151	\N	\N	EFO	4	EFO	eye disease	Juvenile Huntington disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	3187495	\N	\N	EFO	5	EFO	disease	Juvenile Huntington disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	4133659	\N	\N	EFO	6	EFO	disposition	Juvenile Huntington disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	3187497	\N	\N	EFO	5	EFO	disease	Juvenile Huntington disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	5182173	\N	\N	EFO	7	EFO	material property	Juvenile Huntington disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:248111	"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." []	5997534	\N	\N	EFO	8	EFO	experimental factor	Juvenile Huntington disease
Orphanet:2482	\N	\N	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	75022	\N	\N	EFO	0	EFO	Melhem-Fahl syndrome	Melhem-Fahl syndrome
Orphanet:93454	Orphanet:2482	\N	"" []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	217363	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Melhem-Fahl syndrome
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	572121	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Melhem-Fahl syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	1154474	\N	\N	EFO	3	EFO	Rare genetic bone disease	Melhem-Fahl syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	1154475	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Melhem-Fahl syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	2037152	\N	\N	EFO	4	EFO	genetic disorder	Melhem-Fahl syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	2037153	\N	\N	EFO	4	EFO	bone disease	Melhem-Fahl syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	2037154	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Melhem-Fahl syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	4394682	\N	\N	EFO	6	EFO	disease	Melhem-Fahl syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	3187499	\N	\N	EFO	5	EFO	skeletal system disease	Melhem-Fahl syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	3187500	\N	\N	EFO	5	EFO	genetic disorder	Melhem-Fahl syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	5182174	\N	\N	EFO	7	EFO	disposition	Melhem-Fahl syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	4394681	\N	\N	EFO	6	EFO	disease	Melhem-Fahl syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	5997535	\N	\N	EFO	8	EFO	material property	Melhem-Fahl syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2482	"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." []	6550903	\N	\N	EFO	9	EFO	experimental factor	Melhem-Fahl syndrome
Orphanet:248296	\N	\N	"" []	Orphanet:248296	"" []	75023	\N	\N	EFO	0	EFO	Constitutional deficiency anemia	Constitutional deficiency anemia
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:248296	"" []	217364	\N	\N	EFO	1	EFO	Rare constitutional anemia	Constitutional deficiency anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:248296	"" []	572122	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Constitutional deficiency anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248296	"" []	1154476	\N	\N	EFO	3	EFO	genetic disorder	Constitutional deficiency anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:248296	"" []	1154477	\N	\N	EFO	3	EFO	hematological system disease	Constitutional deficiency anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248296	"" []	2037155	\N	\N	EFO	4	EFO	disease	Constitutional deficiency anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248296	"" []	2037156	\N	\N	EFO	4	EFO	disease	Constitutional deficiency anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:248296	"" []	3187501	\N	\N	EFO	5	EFO	disposition	Constitutional deficiency anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:248296	"" []	4394683	\N	\N	EFO	6	EFO	material property	Constitutional deficiency anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:248296	"" []	5412805	\N	\N	EFO	7	EFO	experimental factor	Constitutional deficiency anemia
Orphanet:248305	\N	\N	"" []	Orphanet:248305	"" []	75024	\N	\N	EFO	0	EFO	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
Orphanet:98372	Orphanet:248305	\N	"" []	Orphanet:248305	"" []	217365	\N	\N	EFO	1	EFO	Hemolytic anemia due to a disorder of glycolytic enzymes	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
Orphanet:98369	Orphanet:98372	\N	"" []	Orphanet:248305	"" []	572123	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:248305	"" []	1154478	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:248305	"" []	2037157	\N	\N	EFO	4	EFO	Rare constitutional anemia	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:248305	"" []	3187502	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248305	"" []	4394684	\N	\N	EFO	6	EFO	genetic disorder	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:248305	"" []	4394685	\N	\N	EFO	6	EFO	hematological system disease	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248305	"" []	5412806	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248305	"" []	5412807	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:248305	"" []	6149513	\N	\N	EFO	8	EFO	disposition	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:248305	"" []	6632658	\N	\N	EFO	9	EFO	material property	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:248305	"" []	6925599	\N	\N	EFO	10	EFO	experimental factor	Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
Orphanet:248340	\N	\N	"" []	Orphanet:248340	"" []	75025	\N	\N	EFO	0	EFO	Isolated delta-storage pool disease	Isolated delta-storage pool disease
Orphanet:98456	Orphanet:248340	\N	"" []	Orphanet:248340	"" []	217366	\N	\N	EFO	1	EFO	Dense granule disease	Isolated delta-storage pool disease
Orphanet:98454	Orphanet:98456	\N	"" []	Orphanet:248340	"" []	572124	\N	\N	EFO	2	EFO	Platelet storage pool disease	Isolated delta-storage pool disease
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:248340	"" []	1154479	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Isolated delta-storage pool disease
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:248340	"" []	2037158	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Isolated delta-storage pool disease
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:248340	"" []	3187503	\N	\N	EFO	5	EFO	Rare genetic coagulation disorder	Isolated delta-storage pool disease
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:248340	"" []	4394686	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Isolated delta-storage pool disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248340	"" []	5412808	\N	\N	EFO	7	EFO	genetic disorder	Isolated delta-storage pool disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:248340	"" []	5412809	\N	\N	EFO	7	EFO	hematological system disease	Isolated delta-storage pool disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248340	"" []	6149514	\N	\N	EFO	8	EFO	disease	Isolated delta-storage pool disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248340	"" []	6149515	\N	\N	EFO	8	EFO	disease	Isolated delta-storage pool disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:248340	"" []	6632659	\N	\N	EFO	9	EFO	disposition	Isolated delta-storage pool disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:248340	"" []	6925600	\N	\N	EFO	10	EFO	material property	Isolated delta-storage pool disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:248340	"" []	7099068	\N	\N	EFO	11	EFO	experimental factor	Isolated delta-storage pool disease
Orphanet:248361	\N	\N	"" []	Orphanet:248361	"" []	75026	\N	\N	EFO	0	EFO	Rare thrombotic disorder due to a constitutional coagulation factors defect	Rare thrombotic disorder due to a constitutional coagulation factors defect
Orphanet:183654	Orphanet:248361	\N	"" []	Orphanet:248361	"" []	217367	\N	\N	EFO	1	EFO	Rare genetic coagulation disorder	Rare thrombotic disorder due to a constitutional coagulation factors defect
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:248361	"" []	572125	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Rare thrombotic disorder due to a constitutional coagulation factors defect
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248361	"" []	1154480	\N	\N	EFO	3	EFO	genetic disorder	Rare thrombotic disorder due to a constitutional coagulation factors defect
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:248361	"" []	1154481	\N	\N	EFO	3	EFO	hematological system disease	Rare thrombotic disorder due to a constitutional coagulation factors defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248361	"" []	2037159	\N	\N	EFO	4	EFO	disease	Rare thrombotic disorder due to a constitutional coagulation factors defect
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248361	"" []	2037160	\N	\N	EFO	4	EFO	disease	Rare thrombotic disorder due to a constitutional coagulation factors defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:248361	"" []	3187504	\N	\N	EFO	5	EFO	disposition	Rare thrombotic disorder due to a constitutional coagulation factors defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:248361	"" []	4394687	\N	\N	EFO	6	EFO	material property	Rare thrombotic disorder due to a constitutional coagulation factors defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:248361	"" []	5412810	\N	\N	EFO	7	EFO	experimental factor	Rare thrombotic disorder due to a constitutional coagulation factors defect
Orphanet:2484	\N	\N	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	75027	\N	\N	EFO	0	EFO	Osteodysplasty, Melnick-Needles type	Osteodysplasty, Melnick-Needles type
Orphanet:108987	Orphanet:2484	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	217368	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Osteodysplasty, Melnick-Needles type
Orphanet:330206	Orphanet:2484	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	217369	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Osteodysplasty, Melnick-Needles type
Orphanet:364541	Orphanet:2484	\N	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	217370	\N	\N	EFO	1	EFO	Frontootopalatodigital syndrome	Osteodysplasty, Melnick-Needles type
Orphanet:98464	Orphanet:2484	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	217371	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Osteodysplasty, Melnick-Needles type
Orphanet:98638	Orphanet:2484	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	217372	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Osteodysplasty, Melnick-Needles type
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	572126	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Osteodysplasty, Melnick-Needles type
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	572127	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Osteodysplasty, Melnick-Needles type
Orphanet:364526	Orphanet:364541	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	572128	\N	\N	EFO	2	EFO	Primary bone dysplasia	Osteodysplasty, Melnick-Needles type
Orphanet:93425	Orphanet:364541	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	572129	\N	\N	EFO	2	EFO	Filamin-related bone disorder	Osteodysplasty, Melnick-Needles type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	572130	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Osteodysplasty, Melnick-Needles type
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	572131	\N	\N	EFO	2	EFO	Rare genetic eye disease	Osteodysplasty, Melnick-Needles type
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	1154482	\N	\N	EFO	3	EFO	Rare genetic eye disease	Osteodysplasty, Melnick-Needles type
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	1154483	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Osteodysplasty, Melnick-Needles type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	1154484	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Osteodysplasty, Melnick-Needles type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	1154485	\N	\N	EFO	3	EFO	Rare genetic bone disease	Osteodysplasty, Melnick-Needles type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	1154486	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Osteodysplasty, Melnick-Needles type
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	1154487	\N	\N	EFO	3	EFO	Rare bone disease related to a common gene or pathway defect	Osteodysplasty, Melnick-Needles type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	1154488	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Osteodysplasty, Melnick-Needles type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	2037161	\N	\N	EFO	4	EFO	genetic disorder	Osteodysplasty, Melnick-Needles type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	2037162	\N	\N	EFO	4	EFO	eye disease	Osteodysplasty, Melnick-Needles type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	3187506	\N	\N	EFO	5	EFO	genetic disorder	Osteodysplasty, Melnick-Needles type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	3187507	\N	\N	EFO	5	EFO	genetic disorder	Osteodysplasty, Melnick-Needles type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	3187508	\N	\N	EFO	5	EFO	bone disease	Osteodysplasty, Melnick-Needles type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	2037166	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Osteodysplasty, Melnick-Needles type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	2037167	\N	\N	EFO	4	EFO	Rare genetic bone disease	Osteodysplasty, Melnick-Needles type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	2037168	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Osteodysplasty, Melnick-Needles type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	4133660	\N	\N	EFO	6	EFO	disease	Osteodysplasty, Melnick-Needles type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	3000244	\N	\N	EFO	5	EFO	disease	Osteodysplasty, Melnick-Needles type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	4133661	\N	\N	EFO	6	EFO	skeletal system disease	Osteodysplasty, Melnick-Needles type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	3187509	\N	\N	EFO	5	EFO	genetic disorder	Osteodysplasty, Melnick-Needles type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	5997536	\N	\N	EFO	8	EFO	disposition	Osteodysplasty, Melnick-Needles type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	5182175	\N	\N	EFO	7	EFO	disease	Osteodysplasty, Melnick-Needles type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	6410004	\N	\N	EFO	9	EFO	material property	Osteodysplasty, Melnick-Needles type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2484	"Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems." []	6807853	\N	\N	EFO	10	EFO	experimental factor	Osteodysplasty, Melnick-Needles type
Orphanet:248401	\N	\N	"" []	Orphanet:248401	"" []	75028	\N	\N	EFO	0	EFO	Rare thrombotic disorder due to a constitutional platelet anomaly	Rare thrombotic disorder due to a constitutional platelet anomaly
Orphanet:183654	Orphanet:248401	\N	"" []	Orphanet:248401	"" []	217373	\N	\N	EFO	1	EFO	Rare genetic coagulation disorder	Rare thrombotic disorder due to a constitutional platelet anomaly
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:248401	"" []	572132	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Rare thrombotic disorder due to a constitutional platelet anomaly
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248401	"" []	1154491	\N	\N	EFO	3	EFO	genetic disorder	Rare thrombotic disorder due to a constitutional platelet anomaly
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:248401	"" []	1154492	\N	\N	EFO	3	EFO	hematological system disease	Rare thrombotic disorder due to a constitutional platelet anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248401	"" []	2037171	\N	\N	EFO	4	EFO	disease	Rare thrombotic disorder due to a constitutional platelet anomaly
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248401	"" []	2037172	\N	\N	EFO	4	EFO	disease	Rare thrombotic disorder due to a constitutional platelet anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:248401	"" []	3187511	\N	\N	EFO	5	EFO	disposition	Rare thrombotic disorder due to a constitutional platelet anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:248401	"" []	4394690	\N	\N	EFO	6	EFO	material property	Rare thrombotic disorder due to a constitutional platelet anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:248401	"" []	5412812	\N	\N	EFO	7	EFO	experimental factor	Rare thrombotic disorder due to a constitutional platelet anomaly
Orphanet:248408	\N	\N	"" []	Orphanet:248408	"" []	75029	\N	\N	EFO	0	EFO	Familial hypodysfibrinogenemia	Familial hypodysfibrinogenemia
Orphanet:335	Orphanet:248408	\N	"" []	Orphanet:248408	"" []	217374	\N	\N	EFO	1	EFO	Congenital fibrinogen deficiency	Familial hypodysfibrinogenemia
Orphanet:68334	Orphanet:335	\N	"" []	Orphanet:248408	"" []	572133	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Familial hypodysfibrinogenemia
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:248408	"" []	1154493	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Familial hypodysfibrinogenemia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:248408	"" []	2037173	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Familial hypodysfibrinogenemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:248408	"" []	3187512	\N	\N	EFO	5	EFO	genetic disorder	Familial hypodysfibrinogenemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:248408	"" []	3187513	\N	\N	EFO	5	EFO	hematological system disease	Familial hypodysfibrinogenemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248408	"" []	4394691	\N	\N	EFO	6	EFO	disease	Familial hypodysfibrinogenemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:248408	"" []	4394692	\N	\N	EFO	6	EFO	disease	Familial hypodysfibrinogenemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:248408	"" []	5412813	\N	\N	EFO	7	EFO	disposition	Familial hypodysfibrinogenemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:248408	"" []	6149516	\N	\N	EFO	8	EFO	material property	Familial hypodysfibrinogenemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:248408	"" []	6632660	\N	\N	EFO	9	EFO	experimental factor	Familial hypodysfibrinogenemia
Orphanet:2485	\N	\N	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	75030	\N	\N	EFO	0	EFO	Melorheostosis	Melorheostosis
Orphanet:2781	Orphanet:2485	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	217375	\N	\N	EFO	1	EFO	Osteopetrosis	Melorheostosis
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	572134	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Melorheostosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	1154494	\N	\N	EFO	3	EFO	Primary bone dysplasia	Melorheostosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	2037174	\N	\N	EFO	4	EFO	Rare genetic bone disease	Melorheostosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	2037175	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Melorheostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	3187514	\N	\N	EFO	5	EFO	genetic disorder	Melorheostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	3187515	\N	\N	EFO	5	EFO	bone disease	Melorheostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	3187516	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Melorheostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	5412816	\N	\N	EFO	7	EFO	disease	Melorheostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	4394694	\N	\N	EFO	6	EFO	skeletal system disease	Melorheostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	4394695	\N	\N	EFO	6	EFO	genetic disorder	Melorheostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	5997538	\N	\N	EFO	8	EFO	disposition	Melorheostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	5412815	\N	\N	EFO	7	EFO	disease	Melorheostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	6550904	\N	\N	EFO	9	EFO	material property	Melorheostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2485	"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." []	6889166	\N	\N	EFO	10	EFO	experimental factor	Melorheostosis
Orphanet:2487	\N	\N	"" []	Orphanet:2487	"" []	75031	\N	\N	EFO	0	EFO	Lower limb deficiency - hypospadias	Lower limb deficiency - hypospadias
Orphanet:165707	Orphanet:2487	\N	"" []	Orphanet:2487	"" []	217376	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Lower limb deficiency - hypospadias
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2487	"" []	572135	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Lower limb deficiency - hypospadias
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2487	"" []	1154495	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Lower limb deficiency - hypospadias
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2487	"" []	2037176	\N	\N	EFO	4	EFO	genetic disorder	Lower limb deficiency - hypospadias
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2487	"" []	3187517	\N	\N	EFO	5	EFO	disease	Lower limb deficiency - hypospadias
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2487	"" []	4394696	\N	\N	EFO	6	EFO	disposition	Lower limb deficiency - hypospadias
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2487	"" []	5412817	\N	\N	EFO	7	EFO	material property	Lower limb deficiency - hypospadias
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2487	"" []	6149518	\N	\N	EFO	8	EFO	experimental factor	Lower limb deficiency - hypospadias
Orphanet:2489	\N	\N	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	75032	\N	\N	EFO	0	EFO	Upper limb defect - eye and ear abnormalities	Upper limb defect - eye and ear abnormalities
Orphanet:102283	Orphanet:2489	\N	"" []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	217377	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Upper limb defect - eye and ear abnormalities
Orphanet:183763	Orphanet:2489	\N	"" []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	217378	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Upper limb defect - eye and ear abnormalities
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	572136	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Upper limb defect - eye and ear abnormalities
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	572137	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Upper limb defect - eye and ear abnormalities
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	1154496	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Upper limb defect - eye and ear abnormalities
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	1154497	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Upper limb defect - eye and ear abnormalities
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	2037177	\N	\N	EFO	4	EFO	genetic disorder	Upper limb defect - eye and ear abnormalities
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	2037178	\N	\N	EFO	4	EFO	genetic disorder	Upper limb defect - eye and ear abnormalities
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	3187518	\N	\N	EFO	5	EFO	disease	Upper limb defect - eye and ear abnormalities
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	4394697	\N	\N	EFO	6	EFO	disposition	Upper limb defect - eye and ear abnormalities
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	5412818	\N	\N	EFO	7	EFO	material property	Upper limb defect - eye and ear abnormalities
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2489	"Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." []	6149519	\N	\N	EFO	8	EFO	experimental factor	Upper limb defect - eye and ear abnormalities
Orphanet:249	\N	\N	"" []	Orphanet:249	"" []	75033	\N	\N	EFO	0	EFO	Fibrous dysplasia of bone	Fibrous dysplasia of bone
Orphanet:93450	Orphanet:249	\N	"" []	Orphanet:249	"" []	217379	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Fibrous dysplasia of bone
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:249	"" []	572138	\N	\N	EFO	2	EFO	Primary bone dysplasia	Fibrous dysplasia of bone
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:249	"" []	1154498	\N	\N	EFO	3	EFO	Rare genetic bone disease	Fibrous dysplasia of bone
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:249	"" []	1154499	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Fibrous dysplasia of bone
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:249	"" []	2037179	\N	\N	EFO	4	EFO	genetic disorder	Fibrous dysplasia of bone
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:249	"" []	2037180	\N	\N	EFO	4	EFO	bone disease	Fibrous dysplasia of bone
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:249	"" []	2037181	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Fibrous dysplasia of bone
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:249	"" []	4394700	\N	\N	EFO	6	EFO	disease	Fibrous dysplasia of bone
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:249	"" []	3187520	\N	\N	EFO	5	EFO	skeletal system disease	Fibrous dysplasia of bone
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:249	"" []	3187521	\N	\N	EFO	5	EFO	genetic disorder	Fibrous dysplasia of bone
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:249	"" []	5182177	\N	\N	EFO	7	EFO	disposition	Fibrous dysplasia of bone
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:249	"" []	4394699	\N	\N	EFO	6	EFO	disease	Fibrous dysplasia of bone
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:249	"" []	5997539	\N	\N	EFO	8	EFO	material property	Fibrous dysplasia of bone
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:249	"" []	6550905	\N	\N	EFO	9	EFO	experimental factor	Fibrous dysplasia of bone
Orphanet:2491	\N	\N	"" []	Orphanet:2491	"" []	75034	\N	\N	EFO	0	EFO	Mllerian duct anomalies - limb anomalies	Mllerian duct anomalies - limb anomalies
Orphanet:165707	Orphanet:2491	\N	"" []	Orphanet:2491	"" []	217380	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Mllerian duct anomalies - limb anomalies
Orphanet:330206	Orphanet:2491	\N	"" []	Orphanet:2491	"" []	217381	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Mllerian duct anomalies - limb anomalies
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2491	"" []	572139	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Mllerian duct anomalies - limb anomalies
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2491	"" []	572140	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Mllerian duct anomalies - limb anomalies
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2491	"" []	1154500	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Mllerian duct anomalies - limb anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2491	"" []	1154501	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mllerian duct anomalies - limb anomalies
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2491	"" []	2037182	\N	\N	EFO	4	EFO	genetic disorder	Mllerian duct anomalies - limb anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2491	"" []	2037183	\N	\N	EFO	4	EFO	genetic disorder	Mllerian duct anomalies - limb anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2491	"" []	3187522	\N	\N	EFO	5	EFO	disease	Mllerian duct anomalies - limb anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2491	"" []	4394701	\N	\N	EFO	6	EFO	disposition	Mllerian duct anomalies - limb anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2491	"" []	5412820	\N	\N	EFO	7	EFO	material property	Mllerian duct anomalies - limb anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2491	"" []	6149521	\N	\N	EFO	8	EFO	experimental factor	Mllerian duct anomalies - limb anomalies
Orphanet:2492	\N	\N	"" []	Orphanet:2492	"" []	75035	\N	\N	EFO	0	EFO	Limb transversal defect - cardiac anomaly	Limb transversal defect - cardiac anomaly
Orphanet:404574	Orphanet:2492	\N	"" []	Orphanet:2492	"" []	217382	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Limb transversal defect - cardiac anomaly
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2492	"" []	572141	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Limb transversal defect - cardiac anomaly
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2492	"" []	572142	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Limb transversal defect - cardiac anomaly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2492	"" []	1154502	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Limb transversal defect - cardiac anomaly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2492	"" []	1154503	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Limb transversal defect - cardiac anomaly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2492	"" []	2037184	\N	\N	EFO	4	EFO	Rare genetic bone disease	Limb transversal defect - cardiac anomaly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2492	"" []	2037185	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Limb transversal defect - cardiac anomaly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2492	"" []	2037186	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Limb transversal defect - cardiac anomaly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2492	"" []	3187523	\N	\N	EFO	5	EFO	genetic disorder	Limb transversal defect - cardiac anomaly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2492	"" []	3187524	\N	\N	EFO	5	EFO	bone disease	Limb transversal defect - cardiac anomaly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2492	"" []	3187525	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Limb transversal defect - cardiac anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2492	"" []	4394704	\N	\N	EFO	6	EFO	genetic disorder	Limb transversal defect - cardiac anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2492	"" []	5182178	\N	\N	EFO	7	EFO	disease	Limb transversal defect - cardiac anomaly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2492	"" []	4394703	\N	\N	EFO	6	EFO	skeletal system disease	Limb transversal defect - cardiac anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2492	"" []	5997540	\N	\N	EFO	8	EFO	disposition	Limb transversal defect - cardiac anomaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2492	"" []	5412822	\N	\N	EFO	7	EFO	disease	Limb transversal defect - cardiac anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2492	"" []	6550906	\N	\N	EFO	9	EFO	material property	Limb transversal defect - cardiac anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2492	"" []	6889167	\N	\N	EFO	10	EFO	experimental factor	Limb transversal defect - cardiac anomaly
Orphanet:2495	\N	\N	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	75036	\N	\N	EFO	0	EFO	Meningioma	Meningioma
EFO:0003769	Orphanet:2495	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	217383	\N	\N	EFO	1	EFO	endocrine neoplasm	Meningioma
EFO:0003851	Orphanet:2495	\N	"Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	217384	\N	\N	EFO	1	EFO	meningeal neoplasm	Meningioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	572143	\N	\N	EFO	2	EFO	neoplasm	Meningioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	572144	\N	\N	EFO	2	EFO	endocrine system disease	Meningioma
EFO:0003833	EFO:0003851	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	572145	\N	\N	EFO	2	EFO	brain neoplasm	Meningioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	2037188	\N	\N	EFO	4	EFO	disease	Meningioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	1154505	\N	\N	EFO	3	EFO	disease	Meningioma
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	1154506	\N	\N	EFO	3	EFO	neoplasm	Meningioma
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	1154507	\N	\N	EFO	3	EFO	brain disease	Meningioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	4394706	\N	\N	EFO	6	EFO	disposition	Meningioma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	2037189	\N	\N	EFO	4	EFO	nervous system disease	Meningioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	5059832	\N	\N	EFO	7	EFO	material property	Meningioma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	3187528	\N	\N	EFO	5	EFO	disease	Meningioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2495	"Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding." []	5877090	\N	\N	EFO	8	EFO	experimental factor	Meningioma
Orphanet:2496	\N	\N	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	75037	\N	\N	EFO	0	EFO	Mesomelia-synostoses syndrome	Mesomelia-synostoses syndrome
Orphanet:262065	Orphanet:2496	\N	"" []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	217385	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 8	Mesomelia-synostoses syndrome
Orphanet:93437	Orphanet:2496	\N	"" []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	217386	\N	\N	EFO	1	EFO	Acromesomelic dysplasia	Mesomelia-synostoses syndrome
Orphanet:261801	Orphanet:262065	\N	"" []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	572146	\N	\N	EFO	2	EFO	Partial deletion of chromosome 8	Mesomelia-synostoses syndrome
Orphanet:364526	Orphanet:93437	\N	"" []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	572147	\N	\N	EFO	2	EFO	Primary bone dysplasia	Mesomelia-synostoses syndrome
Orphanet:98142	Orphanet:261801	\N	"" []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	1154508	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Mesomelia-synostoses syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	1154509	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mesomelia-synostoses syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	1154510	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Mesomelia-synostoses syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	2037190	\N	\N	EFO	4	EFO	Autosomal monosomy	Mesomelia-synostoses syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	2037191	\N	\N	EFO	4	EFO	genetic disorder	Mesomelia-synostoses syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	2037192	\N	\N	EFO	4	EFO	bone disease	Mesomelia-synostoses syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	2037193	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mesomelia-synostoses syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	3187529	\N	\N	EFO	5	EFO	Autosomal anomaly	Mesomelia-synostoses syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	6149523	\N	\N	EFO	8	EFO	disease	Mesomelia-synostoses syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	3187531	\N	\N	EFO	5	EFO	skeletal system disease	Mesomelia-synostoses syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	3187532	\N	\N	EFO	5	EFO	genetic disorder	Mesomelia-synostoses syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	4394707	\N	\N	EFO	6	EFO	Chromosomal anomaly	Mesomelia-synostoses syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	6410005	\N	\N	EFO	9	EFO	disposition	Mesomelia-synostoses syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	4394709	\N	\N	EFO	6	EFO	disease	Mesomelia-synostoses syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	5412823	\N	\N	EFO	7	EFO	genetic disorder	Mesomelia-synostoses syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	6807854	\N	\N	EFO	10	EFO	material property	Mesomelia-synostoses syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2496	"Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." []	7048627	\N	\N	EFO	11	EFO	experimental factor	Mesomelia-synostoses syndrome
Orphanet:2497	\N	\N	"" []	Orphanet:2497	"" []	75038	\N	\N	EFO	0	EFO	Upper limb mesomelic dysplasia	Upper limb mesomelic dysplasia
Orphanet:93438	Orphanet:2497	\N	"" []	Orphanet:2497	"" []	217387	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Upper limb mesomelic dysplasia
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:2497	"" []	572148	\N	\N	EFO	2	EFO	Primary bone dysplasia	Upper limb mesomelic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2497	"" []	1154511	\N	\N	EFO	3	EFO	Rare genetic bone disease	Upper limb mesomelic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2497	"" []	1154512	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Upper limb mesomelic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2497	"" []	2037194	\N	\N	EFO	4	EFO	genetic disorder	Upper limb mesomelic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2497	"" []	2037195	\N	\N	EFO	4	EFO	bone disease	Upper limb mesomelic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2497	"" []	2037196	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Upper limb mesomelic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2497	"" []	4394713	\N	\N	EFO	6	EFO	disease	Upper limb mesomelic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2497	"" []	3187534	\N	\N	EFO	5	EFO	skeletal system disease	Upper limb mesomelic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2497	"" []	3187535	\N	\N	EFO	5	EFO	genetic disorder	Upper limb mesomelic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2497	"" []	5182181	\N	\N	EFO	7	EFO	disposition	Upper limb mesomelic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2497	"" []	4394712	\N	\N	EFO	6	EFO	disease	Upper limb mesomelic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2497	"" []	5997542	\N	\N	EFO	8	EFO	material property	Upper limb mesomelic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2497	"" []	6550908	\N	\N	EFO	9	EFO	experimental factor	Upper limb mesomelic dysplasia
Orphanet:2498	\N	\N	"" []	Orphanet:2498	"" []	75039	\N	\N	EFO	0	EFO	Syndactyly type 8	Syndactyly type 8
Orphanet:90025	Orphanet:2498	\N	"" []	Orphanet:2498	"" []	217388	\N	\N	EFO	1	EFO	Syndactyly	Syndactyly type 8
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:2498	"" []	572149	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Syndactyly type 8
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:2498	"" []	1154513	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Syndactyly type 8
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:2498	"" []	1154514	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndactyly type 8
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:2498	"" []	2037197	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Syndactyly type 8
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2498	"" []	2037198	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Syndactyly type 8
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2498	"" []	3187536	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 8
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2498	"" []	3187537	\N	\N	EFO	5	EFO	Rare genetic bone disease	Syndactyly type 8
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2498	"" []	3187538	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Syndactyly type 8
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2498	"" []	5412828	\N	\N	EFO	7	EFO	genetic disorder	Syndactyly type 8
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2498	"" []	4394715	\N	\N	EFO	6	EFO	genetic disorder	Syndactyly type 8
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2498	"" []	4394716	\N	\N	EFO	6	EFO	bone disease	Syndactyly type 8
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2498	"" []	4394717	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2498	"" []	5997543	\N	\N	EFO	8	EFO	disease	Syndactyly type 8
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2498	"" []	5412827	\N	\N	EFO	7	EFO	skeletal system disease	Syndactyly type 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2498	"" []	6550909	\N	\N	EFO	9	EFO	disposition	Syndactyly type 8
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2498	"" []	6149527	\N	\N	EFO	8	EFO	disease	Syndactyly type 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2498	"" []	6889168	\N	\N	EFO	10	EFO	material property	Syndactyly type 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2498	"" []	7085920	\N	\N	EFO	11	EFO	experimental factor	Syndactyly type 8
Orphanet:2499	\N	\N	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	75040	\N	\N	EFO	0	EFO	Metachondromatosis	Metachondromatosis
Orphanet:93450	Orphanet:2499	\N	"" []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	217389	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Metachondromatosis
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	572150	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metachondromatosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	1154515	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metachondromatosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	1154516	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metachondromatosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	2037199	\N	\N	EFO	4	EFO	genetic disorder	Metachondromatosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	2037200	\N	\N	EFO	4	EFO	bone disease	Metachondromatosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	2037201	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metachondromatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	4394720	\N	\N	EFO	6	EFO	disease	Metachondromatosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	3187540	\N	\N	EFO	5	EFO	skeletal system disease	Metachondromatosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	3187541	\N	\N	EFO	5	EFO	genetic disorder	Metachondromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	5182182	\N	\N	EFO	7	EFO	disposition	Metachondromatosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	4394719	\N	\N	EFO	6	EFO	disease	Metachondromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	5997544	\N	\N	EFO	8	EFO	material property	Metachondromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2499	"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." []	6550910	\N	\N	EFO	9	EFO	experimental factor	Metachondromatosis
Orphanet:25	\N	\N	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	75041	\N	\N	EFO	0	EFO	Glutaryl-CoA dehydrogenase deficiency	Glutaryl-CoA dehydrogenase deficiency
Orphanet:68385	Orphanet:25	\N	"" []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	217390	\N	\N	EFO	1	EFO	Neurometabolic disease	Glutaryl-CoA dehydrogenase deficiency
Orphanet:79158	Orphanet:25	\N	"" []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	217391	\N	\N	EFO	1	EFO	Cerebral organic aciduria	Glutaryl-CoA dehydrogenase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	572151	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Glutaryl-CoA dehydrogenase deficiency
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	572152	\N	\N	EFO	2	EFO	Organic aciduria	Glutaryl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	1154517	\N	\N	EFO	3	EFO	genetic disorder	Glutaryl-CoA dehydrogenase deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	1154518	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Glutaryl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	4394722	\N	\N	EFO	6	EFO	disease	Glutaryl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	2037203	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glutaryl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	5059833	\N	\N	EFO	7	EFO	disposition	Glutaryl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	3187543	\N	\N	EFO	5	EFO	genetic disorder	Glutaryl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	3187544	\N	\N	EFO	5	EFO	metabolic disease	Glutaryl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	5877091	\N	\N	EFO	8	EFO	material property	Glutaryl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	4394723	\N	\N	EFO	6	EFO	disease	Glutaryl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:25	"Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." []	6470314	\N	\N	EFO	9	EFO	experimental factor	Glutaryl-CoA dehydrogenase deficiency
Orphanet:250	\N	\N	"" []	Orphanet:250	"" []	75042	\N	\N	EFO	0	EFO	Frontonasal dysplasia	Frontonasal dysplasia
Orphanet:93453	Orphanet:250	\N	"" []	Orphanet:250	"" []	217392	\N	\N	EFO	1	EFO	Dysostosis with predominant craniofacial involvement	Frontonasal dysplasia
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:250	"" []	572153	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Frontonasal dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:250	"" []	1154519	\N	\N	EFO	3	EFO	Rare genetic bone disease	Frontonasal dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:250	"" []	1154520	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Frontonasal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250	"" []	2037204	\N	\N	EFO	4	EFO	genetic disorder	Frontonasal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:250	"" []	2037205	\N	\N	EFO	4	EFO	bone disease	Frontonasal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:250	"" []	2037206	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Frontonasal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250	"" []	4394726	\N	\N	EFO	6	EFO	disease	Frontonasal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:250	"" []	3187546	\N	\N	EFO	5	EFO	skeletal system disease	Frontonasal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250	"" []	3187547	\N	\N	EFO	5	EFO	genetic disorder	Frontonasal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:250	"" []	5182183	\N	\N	EFO	7	EFO	disposition	Frontonasal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250	"" []	4394725	\N	\N	EFO	6	EFO	disease	Frontonasal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:250	"" []	5997545	\N	\N	EFO	8	EFO	material property	Frontonasal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:250	"" []	6550911	\N	\N	EFO	9	EFO	experimental factor	Frontonasal dysplasia
Orphanet:2500	\N	\N	"" []	Orphanet:2500	"" []	75043	\N	\N	EFO	0	EFO	Acrogeria	Acrogeria
Orphanet:79389	Orphanet:2500	\N	"" []	Orphanet:2500	"" []	217393	\N	\N	EFO	1	EFO	Premature aging	Acrogeria
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:2500	"" []	572154	\N	\N	EFO	2	EFO	Rare genetic skin disease	Acrogeria
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2500	"" []	1154521	\N	\N	EFO	3	EFO	genetic disorder	Acrogeria
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2500	"" []	1154522	\N	\N	EFO	3	EFO	skin disease	Acrogeria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2500	"" []	2037207	\N	\N	EFO	4	EFO	disease	Acrogeria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2500	"" []	2037208	\N	\N	EFO	4	EFO	disease	Acrogeria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2500	"" []	3187548	\N	\N	EFO	5	EFO	disposition	Acrogeria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2500	"" []	4394727	\N	\N	EFO	6	EFO	material property	Acrogeria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2500	"" []	5412832	\N	\N	EFO	7	EFO	experimental factor	Acrogeria
Orphanet:2501	\N	\N	"" []	Orphanet:2501	"" []	75044	\N	\N	EFO	0	EFO	Metaphyseal chondrodysplasia, Spahr type	Metaphyseal chondrodysplasia, Spahr type
Orphanet:93430	Orphanet:2501	\N	"" []	Orphanet:2501	"" []	217394	\N	\N	EFO	1	EFO	Multiple metaphyseal dysplasia	Metaphyseal chondrodysplasia, Spahr type
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:2501	"" []	572155	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metaphyseal chondrodysplasia, Spahr type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2501	"" []	1154523	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metaphyseal chondrodysplasia, Spahr type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2501	"" []	1154524	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metaphyseal chondrodysplasia, Spahr type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2501	"" []	2037209	\N	\N	EFO	4	EFO	genetic disorder	Metaphyseal chondrodysplasia, Spahr type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2501	"" []	2037210	\N	\N	EFO	4	EFO	bone disease	Metaphyseal chondrodysplasia, Spahr type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2501	"" []	2037211	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metaphyseal chondrodysplasia, Spahr type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2501	"" []	4394730	\N	\N	EFO	6	EFO	disease	Metaphyseal chondrodysplasia, Spahr type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2501	"" []	3187550	\N	\N	EFO	5	EFO	skeletal system disease	Metaphyseal chondrodysplasia, Spahr type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2501	"" []	3187551	\N	\N	EFO	5	EFO	genetic disorder	Metaphyseal chondrodysplasia, Spahr type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2501	"" []	5182184	\N	\N	EFO	7	EFO	disposition	Metaphyseal chondrodysplasia, Spahr type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2501	"" []	4394729	\N	\N	EFO	6	EFO	disease	Metaphyseal chondrodysplasia, Spahr type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2501	"" []	5997546	\N	\N	EFO	8	EFO	material property	Metaphyseal chondrodysplasia, Spahr type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2501	"" []	6550912	\N	\N	EFO	9	EFO	experimental factor	Metaphyseal chondrodysplasia, Spahr type
Orphanet:250165	\N	\N	"" []	Orphanet:250165	"" []	75045	\N	\N	EFO	0	EFO	Genetic polycythemia	Genetic polycythemia
EFO:0005804	Orphanet:250165	\N	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	Orphanet:250165	"" []	217395	\N	\N	EFO	1	EFO	polycythemia	Genetic polycythemia
Orphanet:158300	Orphanet:250165	\N	"" []	Orphanet:250165	"" []	217396	\N	\N	EFO	1	EFO	Rare genetic hematologic disease	Genetic polycythemia
EFO:0005803	EFO:0005804	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:250165	"" []	572156	\N	\N	EFO	2	EFO	hematological system disease	Genetic polycythemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250165	"" []	572157	\N	\N	EFO	2	EFO	genetic disorder	Genetic polycythemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:250165	"" []	572158	\N	\N	EFO	2	EFO	hematological system disease	Genetic polycythemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250165	"" []	1154525	\N	\N	EFO	3	EFO	disease	Genetic polycythemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250165	"" []	1154526	\N	\N	EFO	3	EFO	disease	Genetic polycythemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:250165	"" []	2037212	\N	\N	EFO	4	EFO	disposition	Genetic polycythemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:250165	"" []	3187552	\N	\N	EFO	5	EFO	material property	Genetic polycythemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:250165	"" []	4394731	\N	\N	EFO	6	EFO	experimental factor	Genetic polycythemia
Orphanet:2502	\N	\N	"" []	Orphanet:2502	"" []	75046	\N	\N	EFO	0	EFO	Metaphyseal dysostosis - intellectual disability - conductive deafness	Metaphyseal dysostosis - intellectual disability - conductive deafness
Orphanet:183763	Orphanet:2502	\N	"" []	Orphanet:2502	"" []	217397	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Metaphyseal dysostosis - intellectual disability - conductive deafness
Orphanet:90642	Orphanet:2502	\N	"" []	Orphanet:2502	"" []	217398	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Metaphyseal dysostosis - intellectual disability - conductive deafness
Orphanet:93430	Orphanet:2502	\N	"" []	Orphanet:2502	"" []	217399	\N	\N	EFO	1	EFO	Multiple metaphyseal dysplasia	Metaphyseal dysostosis - intellectual disability - conductive deafness
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2502	"" []	572159	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Metaphyseal dysostosis - intellectual disability - conductive deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2502	"" []	572160	\N	\N	EFO	2	EFO	Rare genetic deafness	Metaphyseal dysostosis - intellectual disability - conductive deafness
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:2502	"" []	572161	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metaphyseal dysostosis - intellectual disability - conductive deafness
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2502	"" []	1154527	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2502	"" []	1154528	\N	\N	EFO	3	EFO	genetic disorder	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2502	"" []	1154529	\N	\N	EFO	3	EFO	auditory system disease	Metaphyseal dysostosis - intellectual disability - conductive deafness
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2502	"" []	1154530	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metaphyseal dysostosis - intellectual disability - conductive deafness
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2502	"" []	1154531	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2502	"" []	2037213	\N	\N	EFO	4	EFO	genetic disorder	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2502	"" []	4394735	\N	\N	EFO	6	EFO	disease	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2502	"" []	2037215	\N	\N	EFO	4	EFO	sensory system disease	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2502	"" []	2037216	\N	\N	EFO	4	EFO	genetic disorder	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2502	"" []	2037217	\N	\N	EFO	4	EFO	bone disease	Metaphyseal dysostosis - intellectual disability - conductive deafness
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2502	"" []	2037218	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metaphyseal dysostosis - intellectual disability - conductive deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2502	"" []	5059834	\N	\N	EFO	7	EFO	disposition	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2502	"" []	3187555	\N	\N	EFO	5	EFO	nervous system disease	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2502	"" []	3187556	\N	\N	EFO	5	EFO	skeletal system disease	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2502	"" []	3187557	\N	\N	EFO	5	EFO	genetic disorder	Metaphyseal dysostosis - intellectual disability - conductive deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2502	"" []	5877092	\N	\N	EFO	8	EFO	material property	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2502	"" []	4394733	\N	\N	EFO	6	EFO	disease	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2502	"" []	4394734	\N	\N	EFO	6	EFO	disease	Metaphyseal dysostosis - intellectual disability - conductive deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2502	"" []	6470315	\N	\N	EFO	9	EFO	experimental factor	Metaphyseal dysostosis - intellectual disability - conductive deafness
Orphanet:2504	\N	\N	"" []	Orphanet:2504	"" []	75047	\N	\N	EFO	0	EFO	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Orphanet:93430	Orphanet:2504	\N	"" []	Orphanet:2504	"" []	217400	\N	\N	EFO	1	EFO	Multiple metaphyseal dysplasia	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:2504	"" []	572162	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2504	"" []	1154532	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2504	"" []	1154533	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2504	"" []	2037219	\N	\N	EFO	4	EFO	genetic disorder	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2504	"" []	2037220	\N	\N	EFO	4	EFO	bone disease	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2504	"" []	2037221	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2504	"" []	4394738	\N	\N	EFO	6	EFO	disease	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2504	"" []	3187559	\N	\N	EFO	5	EFO	skeletal system disease	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2504	"" []	3187560	\N	\N	EFO	5	EFO	genetic disorder	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2504	"" []	5182186	\N	\N	EFO	7	EFO	disposition	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2504	"" []	4394737	\N	\N	EFO	6	EFO	disease	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2504	"" []	5997548	\N	\N	EFO	8	EFO	material property	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2504	"" []	6550913	\N	\N	EFO	9	EFO	experimental factor	Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Orphanet:2505	\N	\N	"" []	Orphanet:2505	"" []	75048	\N	\N	EFO	0	EFO	Multiple benign circumferential skin creases on limbs	Multiple benign circumferential skin creases on limbs
Orphanet:79385	Orphanet:2505	\N	"" []	Orphanet:2505	"" []	217401	\N	\N	EFO	1	EFO	Unclassified genetic skin disorder	Multiple benign circumferential skin creases on limbs
Orphanet:68346	Orphanet:79385	\N	"" []	Orphanet:2505	"" []	572163	\N	\N	EFO	2	EFO	Rare genetic skin disease	Multiple benign circumferential skin creases on limbs
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2505	"" []	1154534	\N	\N	EFO	3	EFO	genetic disorder	Multiple benign circumferential skin creases on limbs
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2505	"" []	1154535	\N	\N	EFO	3	EFO	skin disease	Multiple benign circumferential skin creases on limbs
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2505	"" []	2037222	\N	\N	EFO	4	EFO	disease	Multiple benign circumferential skin creases on limbs
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2505	"" []	2037223	\N	\N	EFO	4	EFO	disease	Multiple benign circumferential skin creases on limbs
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2505	"" []	3187561	\N	\N	EFO	5	EFO	disposition	Multiple benign circumferential skin creases on limbs
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2505	"" []	4394739	\N	\N	EFO	6	EFO	material property	Multiple benign circumferential skin creases on limbs
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2505	"" []	5412836	\N	\N	EFO	7	EFO	experimental factor	Multiple benign circumferential skin creases on limbs
Orphanet:2508	\N	\N	"" []	Orphanet:2508	"" []	75049	\N	\N	EFO	0	EFO	Micrencephaly - corpus callosum agenesis - abnormal genitalia	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:165707	Orphanet:2508	\N	"" []	Orphanet:2508	"" []	217402	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:182079	Orphanet:2508	\N	"" []	Orphanet:2508	"" []	217403	\N	\N	EFO	1	EFO	ARX-related epileptic encephalopathy	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:269573	Orphanet:2508	\N	"" []	Orphanet:2508	"" []	217404	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:98464	Orphanet:2508	\N	"" []	Orphanet:2508	"" []	217405	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2508	"" []	572164	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:166472	Orphanet:182079	\N	"" []	Orphanet:2508	"" []	572165	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:2508	"" []	572166	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2508	"" []	572167	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2508	"" []	1154536	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:2508	"" []	1154537	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2508	"" []	1154538	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2508	"" []	1154539	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Micrencephaly - corpus callosum agenesis - abnormal genitalia
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2508	"" []	2037224	\N	\N	EFO	4	EFO	genetic disorder	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2508	"" []	2037225	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2508	"" []	2037226	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2508	"" []	2037227	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2508	"" []	2037228	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Micrencephaly - corpus callosum agenesis - abnormal genitalia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2508	"" []	4394741	\N	\N	EFO	6	EFO	disease	Micrencephaly - corpus callosum agenesis - abnormal genitalia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2508	"" []	3187563	\N	\N	EFO	5	EFO	genetic disorder	Micrencephaly - corpus callosum agenesis - abnormal genitalia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2508	"" []	3187564	\N	\N	EFO	5	EFO	genetic disorder	Micrencephaly - corpus callosum agenesis - abnormal genitalia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2508	"" []	5182187	\N	\N	EFO	7	EFO	disposition	Micrencephaly - corpus callosum agenesis - abnormal genitalia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2508	"" []	5997549	\N	\N	EFO	8	EFO	material property	Micrencephaly - corpus callosum agenesis - abnormal genitalia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2508	"" []	6550914	\N	\N	EFO	9	EFO	experimental factor	Micrencephaly - corpus callosum agenesis - abnormal genitalia
Orphanet:250923	\N	\N	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	75050	\N	\N	EFO	0	EFO	Isolated aniridia	Isolated aniridia
Orphanet:77	Orphanet:250923	\N	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	217406	\N	\N	EFO	1	EFO	Aniridia	Isolated aniridia
Orphanet:98554	Orphanet:77	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	572168	\N	\N	EFO	2	EFO	Major induction processes eye anomaly	Isolated aniridia
Orphanet:98634	Orphanet:77	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	572169	\N	\N	EFO	2	EFO	Iridogoniodysgenesis	Isolated aniridia
Orphanet:98641	Orphanet:77	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	572170	\N	\N	EFO	2	EFO	Syndromic cataract	Isolated aniridia
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	1154540	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Isolated aniridia
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	1154541	\N	\N	EFO	3	EFO	Glaucoma associated with neural crest cell migration anomaly	Isolated aniridia
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	1154542	\N	\N	EFO	3	EFO	Rare cataract	Isolated aniridia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	6149534	\N	\N	EFO	8	EFO	Rare genetic eye disease	Isolated aniridia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	6149535	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Isolated aniridia
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	2037231	\N	\N	EFO	4	EFO	Secondary dysgenetic glaucoma	Isolated aniridia
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	2037232	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Isolated aniridia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	6378880	\N	\N	EFO	9	EFO	genetic disorder	Isolated aniridia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	6378881	\N	\N	EFO	9	EFO	eye disease	Isolated aniridia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	6378882	\N	\N	EFO	9	EFO	genetic disorder	Isolated aniridia
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	3187568	\N	\N	EFO	5	EFO	Hereditary glaucoma	Isolated aniridia
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	3187569	\N	\N	EFO	5	EFO	Rare genetic eye disease	Isolated aniridia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	6778677	\N	\N	EFO	10	EFO	disease	Isolated aniridia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	6778678	\N	\N	EFO	10	EFO	disease	Isolated aniridia
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	4394744	\N	\N	EFO	6	EFO	Non-syndromic developmental defect of the eye	Isolated aniridia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	7029879	\N	\N	EFO	11	EFO	disposition	Isolated aniridia
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	5412839	\N	\N	EFO	7	EFO	Genetic developmental defect of the eye	Isolated aniridia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	7181763	\N	\N	EFO	12	EFO	material property	Isolated aniridia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:250923	"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." []	7279089	\N	\N	EFO	13	EFO	experimental factor	Isolated aniridia
Orphanet:250932	\N	\N	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	75051	\N	\N	EFO	0	EFO	Autosomal dominant optic atrophy and peripheral neuropathy	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:254822	Orphanet:250932	\N	"" []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	217407	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder with no known mechanism	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:98672	Orphanet:250932	\N	"" []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	217408	\N	\N	EFO	1	EFO	Autosomal dominant optic atrophy	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:2443	Orphanet:254822	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	572171	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:103	Orphanet:98672	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	572172	\N	\N	EFO	2	EFO	Genetic optic atrophy	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	1154543	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	1154544	\N	\N	EFO	3	EFO	Optic neuropathy	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	2037233	\N	\N	EFO	4	EFO	Mitochondrial disease	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	2037234	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	3187570	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	3187571	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Autosomal dominant optic atrophy and peripheral neuropathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	3187572	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant optic atrophy and peripheral neuropathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	3187573	\N	\N	EFO	5	EFO	eye disease	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	4394747	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	4394748	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Autosomal dominant optic atrophy and peripheral neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	6149536	\N	\N	EFO	8	EFO	disease	Autosomal dominant optic atrophy and peripheral neuropathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	4394750	\N	\N	EFO	6	EFO	disease	Autosomal dominant optic atrophy and peripheral neuropathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	5412840	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant optic atrophy and peripheral neuropathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	5412841	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant optic atrophy and peripheral neuropathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	5412842	\N	\N	EFO	7	EFO	metabolic disease	Autosomal dominant optic atrophy and peripheral neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	6470316	\N	\N	EFO	9	EFO	disposition	Autosomal dominant optic atrophy and peripheral neuropathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	6149537	\N	\N	EFO	8	EFO	disease	Autosomal dominant optic atrophy and peripheral neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	6848461	\N	\N	EFO	10	EFO	material property	Autosomal dominant optic atrophy and peripheral neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:250932	"Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." []	7068442	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant optic atrophy and peripheral neuropathy
Orphanet:250972	\N	\N	"" []	Orphanet:250972	"" []	75052	\N	\N	EFO	0	EFO	Polymicrogyria with optic nerve hypoplasia	Polymicrogyria with optic nerve hypoplasia
Orphanet:137905	Orphanet:250972	\N	"" []	Orphanet:250972	"" []	217409	\N	\N	EFO	1	EFO	Syndromic optic nerve hypoplasia	Polymicrogyria with optic nerve hypoplasia
Orphanet:166478	Orphanet:250972	\N	"" []	Orphanet:250972	"" []	217410	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Polymicrogyria with optic nerve hypoplasia
Orphanet:183763	Orphanet:250972	\N	"" []	Orphanet:250972	"" []	217411	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Polymicrogyria with optic nerve hypoplasia
Orphanet:269564	Orphanet:250972	\N	"" []	Orphanet:250972	"" []	217412	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Polymicrogyria with optic nerve hypoplasia
Orphanet:98671	Orphanet:137905	\N	"" []	Orphanet:250972	"" []	572173	\N	\N	EFO	2	EFO	Optic neuropathy	Polymicrogyria with optic nerve hypoplasia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:250972	"" []	572174	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Polymicrogyria with optic nerve hypoplasia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:250972	"" []	572175	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Polymicrogyria with optic nerve hypoplasia
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:250972	"" []	572176	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Polymicrogyria with optic nerve hypoplasia
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:250972	"" []	1154545	\N	\N	EFO	3	EFO	Rare genetic eye disease	Polymicrogyria with optic nerve hypoplasia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:250972	"" []	1154546	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Polymicrogyria with optic nerve hypoplasia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:250972	"" []	1154547	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Polymicrogyria with optic nerve hypoplasia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:250972	"" []	1154548	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Polymicrogyria with optic nerve hypoplasia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:250972	"" []	1154549	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Polymicrogyria with optic nerve hypoplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250972	"" []	2037235	\N	\N	EFO	4	EFO	genetic disorder	Polymicrogyria with optic nerve hypoplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:250972	"" []	2037236	\N	\N	EFO	4	EFO	eye disease	Polymicrogyria with optic nerve hypoplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250972	"" []	2037237	\N	\N	EFO	4	EFO	genetic disorder	Polymicrogyria with optic nerve hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250972	"" []	2037238	\N	\N	EFO	4	EFO	genetic disorder	Polymicrogyria with optic nerve hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250972	"" []	3187574	\N	\N	EFO	5	EFO	disease	Polymicrogyria with optic nerve hypoplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250972	"" []	3187575	\N	\N	EFO	5	EFO	disease	Polymicrogyria with optic nerve hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:250972	"" []	4394751	\N	\N	EFO	6	EFO	disposition	Polymicrogyria with optic nerve hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:250972	"" []	5412844	\N	\N	EFO	7	EFO	material property	Polymicrogyria with optic nerve hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:250972	"" []	6149539	\N	\N	EFO	8	EFO	experimental factor	Polymicrogyria with optic nerve hypoplasia
Orphanet:250977	\N	\N	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	75053	\N	\N	EFO	0	EFO	AICA-ribosiduria	AICA-ribosiduria
Orphanet:102283	Orphanet:250977	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	217413	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	AICA-ribosiduria
Orphanet:183763	Orphanet:250977	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	217414	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	AICA-ribosiduria
Orphanet:79191	Orphanet:250977	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	217415	\N	\N	EFO	1	EFO	Disorder of purine metabolism	AICA-ribosiduria
Orphanet:98664	Orphanet:250977	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	217416	\N	\N	EFO	1	EFO	Genetic macular dystrophy	AICA-ribosiduria
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	572177	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	AICA-ribosiduria
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	572178	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	AICA-ribosiduria
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	572179	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	AICA-ribosiduria
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	572180	\N	\N	EFO	2	EFO	Retinal dystrophy	AICA-ribosiduria
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	1154550	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	AICA-ribosiduria
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	1154551	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	AICA-ribosiduria
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	1154552	\N	\N	EFO	3	EFO	Inborn errors of metabolism	AICA-ribosiduria
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	1154553	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	AICA-ribosiduria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	2037239	\N	\N	EFO	4	EFO	genetic disorder	AICA-ribosiduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	2037240	\N	\N	EFO	4	EFO	genetic disorder	AICA-ribosiduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	2037241	\N	\N	EFO	4	EFO	genetic disorder	AICA-ribosiduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	2037242	\N	\N	EFO	4	EFO	metabolic disease	AICA-ribosiduria
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	2037243	\N	\N	EFO	4	EFO	Rare genetic eye disease	AICA-ribosiduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	4394753	\N	\N	EFO	6	EFO	disease	AICA-ribosiduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	3187577	\N	\N	EFO	5	EFO	disease	AICA-ribosiduria
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	3187578	\N	\N	EFO	5	EFO	genetic disorder	AICA-ribosiduria
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	3187579	\N	\N	EFO	5	EFO	eye disease	AICA-ribosiduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	5182190	\N	\N	EFO	7	EFO	disposition	AICA-ribosiduria
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	4394754	\N	\N	EFO	6	EFO	disease	AICA-ribosiduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	5997551	\N	\N	EFO	8	EFO	material property	AICA-ribosiduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:250977	"AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." []	6550916	\N	\N	EFO	9	EFO	experimental factor	AICA-ribosiduria
Orphanet:250984	\N	\N	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	75054	\N	\N	EFO	0	EFO	Autosomal recessive Stickler syndrome	Autosomal recessive Stickler syndrome
Orphanet:828	Orphanet:250984	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	217417	\N	\N	EFO	1	EFO	Stickler syndrome	Autosomal recessive Stickler syndrome
Orphanet:93429	Orphanet:250984	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	217418	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Autosomal recessive Stickler syndrome
Orphanet:108987	Orphanet:828	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	572181	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Autosomal recessive Stickler syndrome
Orphanet:138041	Orphanet:828	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	572182	\N	\N	EFO	2	EFO	Pierre Robin syndrome associated with collagen disease	Autosomal recessive Stickler syndrome
Orphanet:253	Orphanet:828	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	572183	\N	\N	EFO	2	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Autosomal recessive Stickler syndrome
Orphanet:90642	Orphanet:828	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	572184	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Autosomal recessive Stickler syndrome
Orphanet:98620	Orphanet:828	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	572185	\N	\N	EFO	2	EFO	Syndromic myopia	Autosomal recessive Stickler syndrome
Orphanet:98638	Orphanet:828	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	572186	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Autosomal recessive Stickler syndrome
Orphanet:98648	Orphanet:828	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	572187	\N	\N	EFO	2	EFO	Musculoskeletal disease with cataract	Autosomal recessive Stickler syndrome
Orphanet:98670	Orphanet:828	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	572188	\N	\N	EFO	2	EFO	Vitreoretinal degeneration	Autosomal recessive Stickler syndrome
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	572189	\N	\N	EFO	2	EFO	Primary bone dysplasia	Autosomal recessive Stickler syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	1154554	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Autosomal recessive Stickler syndrome
Orphanet:363294	Orphanet:138041	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	1154555	\N	\N	EFO	3	EFO	Genetic syndromic Pierre Robin syndrome	Autosomal recessive Stickler syndrome
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	1154556	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal recessive Stickler syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	1154557	\N	\N	EFO	3	EFO	Rare genetic deafness	Autosomal recessive Stickler syndrome
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	1154558	\N	\N	EFO	3	EFO	Rare genetic refraction anomaly	Autosomal recessive Stickler syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	1154559	\N	\N	EFO	3	EFO	Rare genetic eye disease	Autosomal recessive Stickler syndrome
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	1154560	\N	\N	EFO	3	EFO	Systemic disease with cataract	Autosomal recessive Stickler syndrome
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	1154561	\N	\N	EFO	3	EFO	Vitreoretinopathy	Autosomal recessive Stickler syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	2037247	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal recessive Stickler syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	2037248	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal recessive Stickler syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	2037244	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal recessive Stickler syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	2037245	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive Stickler syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	2037246	\N	\N	EFO	4	EFO	Syndrome or malformation associated with head and neck malformations	Autosomal recessive Stickler syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	2037249	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive Stickler syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	2037250	\N	\N	EFO	4	EFO	auditory system disease	Autosomal recessive Stickler syndrome
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	2037251	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal recessive Stickler syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	6149543	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive Stickler syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	6149544	\N	\N	EFO	8	EFO	eye disease	Autosomal recessive Stickler syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	2037254	\N	\N	EFO	4	EFO	Syndromic cataract	Autosomal recessive Stickler syndrome
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	2037255	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Autosomal recessive Stickler syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	3000246	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive Stickler syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	3000247	\N	\N	EFO	5	EFO	bone disease	Autosomal recessive Stickler syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	3000248	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive Stickler syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	6149541	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive Stickler syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	3187583	\N	\N	EFO	5	EFO	Rare otorhinolaryngological malformation	Autosomal recessive Stickler syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	6378883	\N	\N	EFO	9	EFO	disease	Autosomal recessive Stickler syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	3187585	\N	\N	EFO	5	EFO	sensory system disease	Autosomal recessive Stickler syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	6378884	\N	\N	EFO	9	EFO	disease	Autosomal recessive Stickler syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	3187587	\N	\N	EFO	5	EFO	Rare cataract	Autosomal recessive Stickler syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	3187588	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive Stickler syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	4133667	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal recessive Stickler syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	4394755	\N	\N	EFO	6	EFO	Genetic head and neck malformation	Autosomal recessive Stickler syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	6778679	\N	\N	EFO	10	EFO	disposition	Autosomal recessive Stickler syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	4394757	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive Stickler syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	4394758	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Autosomal recessive Stickler syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	5182192	\N	\N	EFO	7	EFO	disease	Autosomal recessive Stickler syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	5412846	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive Stickler syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	7029880	\N	\N	EFO	11	EFO	material property	Autosomal recessive Stickler syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	5412848	\N	\N	EFO	7	EFO	disease	Autosomal recessive Stickler syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	5412849	\N	\N	EFO	7	EFO	Rare genetic eye disease	Autosomal recessive Stickler syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:250984	" gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" []	7181764	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive Stickler syndrome
Orphanet:250989	\N	\N	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	Orphanet:250989	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	75055	\N	\N	EFO	0	EFO	1q21.1 microdeletion syndrome	1q21.1 microdeletion syndrome
Orphanet:262001	Orphanet:250989	\N	"" []	Orphanet:250989	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	217419	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 1	1q21.1 microdeletion syndrome
Orphanet:261766	Orphanet:262001	\N	"" []	Orphanet:250989	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	572190	\N	\N	EFO	2	EFO	Partial deletion of chromosome 1	1q21.1 microdeletion syndrome
Orphanet:98142	Orphanet:261766	\N	"" []	Orphanet:250989	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	1154564	\N	\N	EFO	3	EFO	Partial autosomal monosomy	1q21.1 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:250989	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	2037259	\N	\N	EFO	4	EFO	Autosomal monosomy	1q21.1 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:250989	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	3187590	\N	\N	EFO	5	EFO	Autosomal anomaly	1q21.1 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:250989	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	4394762	\N	\N	EFO	6	EFO	Chromosomal anomaly	1q21.1 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250989	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	5412850	\N	\N	EFO	7	EFO	genetic disorder	1q21.1 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250989	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	6149545	\N	\N	EFO	8	EFO	disease	1q21.1 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:250989	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	6632666	\N	\N	EFO	9	EFO	disposition	1q21.1 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:250989	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	6925602	\N	\N	EFO	10	EFO	material property	1q21.1 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:250989	"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." []	7099069	\N	\N	EFO	11	EFO	experimental factor	1q21.1 microdeletion syndrome
Orphanet:250994	\N	\N	"" []	Orphanet:250994	"" []	75056	\N	\N	EFO	0	EFO	1q21.1 microduplication syndrome	1q21.1 microduplication syndrome
Orphanet:262833	Orphanet:250994	\N	"" []	Orphanet:250994	"" []	217420	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 1	1q21.1 microduplication syndrome
Orphanet:262191	Orphanet:262833	\N	"" []	Orphanet:250994	"" []	572191	\N	\N	EFO	2	EFO	Partial duplication of chromosome 1	1q21.1 microduplication syndrome
Orphanet:98132	Orphanet:262191	\N	"" []	Orphanet:250994	"" []	1154565	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	1q21.1 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:250994	"" []	2037260	\N	\N	EFO	4	EFO	Autosomal trisomy	1q21.1 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:250994	"" []	3187591	\N	\N	EFO	5	EFO	Autosomal anomaly	1q21.1 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:250994	"" []	4394763	\N	\N	EFO	6	EFO	Chromosomal anomaly	1q21.1 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250994	"" []	5412851	\N	\N	EFO	7	EFO	genetic disorder	1q21.1 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250994	"" []	6149546	\N	\N	EFO	8	EFO	disease	1q21.1 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:250994	"" []	6632667	\N	\N	EFO	9	EFO	disposition	1q21.1 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:250994	"" []	6925603	\N	\N	EFO	10	EFO	material property	1q21.1 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:250994	"" []	7099070	\N	\N	EFO	11	EFO	experimental factor	1q21.1 microduplication syndrome
Orphanet:250999	\N	\N	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	Orphanet:250999	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	75057	\N	\N	EFO	0	EFO	1q41q42 microdeletion syndrome	1q41q42 microdeletion syndrome
Orphanet:262001	Orphanet:250999	\N	"" []	Orphanet:250999	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	217421	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 1	1q41q42 microdeletion syndrome
Orphanet:261766	Orphanet:262001	\N	"" []	Orphanet:250999	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	572192	\N	\N	EFO	2	EFO	Partial deletion of chromosome 1	1q41q42 microdeletion syndrome
Orphanet:98142	Orphanet:261766	\N	"" []	Orphanet:250999	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	1154566	\N	\N	EFO	3	EFO	Partial autosomal monosomy	1q41q42 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:250999	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	2037261	\N	\N	EFO	4	EFO	Autosomal monosomy	1q41q42 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:250999	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	3187592	\N	\N	EFO	5	EFO	Autosomal anomaly	1q41q42 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:250999	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	4394764	\N	\N	EFO	6	EFO	Chromosomal anomaly	1q41q42 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:250999	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	5412852	\N	\N	EFO	7	EFO	genetic disorder	1q41q42 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:250999	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	6149547	\N	\N	EFO	8	EFO	disease	1q41q42 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:250999	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	6632668	\N	\N	EFO	9	EFO	disposition	1q41q42 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:250999	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	6925604	\N	\N	EFO	10	EFO	material property	1q41q42 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:250999	"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." []	7099071	\N	\N	EFO	11	EFO	experimental factor	1q41q42 microdeletion syndrome
Orphanet:251	\N	\N	"" []	Orphanet:251	"" []	75058	\N	\N	EFO	0	EFO	Multiple epiphyseal dysplasia	Multiple epiphyseal dysplasia
Orphanet:93429	Orphanet:251	\N	"" []	Orphanet:251	"" []	217422	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Multiple epiphyseal dysplasia
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:251	"" []	572193	\N	\N	EFO	2	EFO	Primary bone dysplasia	Multiple epiphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:251	"" []	1154567	\N	\N	EFO	3	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:251	"" []	1154568	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Multiple epiphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251	"" []	2037262	\N	\N	EFO	4	EFO	genetic disorder	Multiple epiphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:251	"" []	2037263	\N	\N	EFO	4	EFO	bone disease	Multiple epiphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:251	"" []	2037264	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Multiple epiphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251	"" []	4394767	\N	\N	EFO	6	EFO	disease	Multiple epiphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:251	"" []	3187594	\N	\N	EFO	5	EFO	skeletal system disease	Multiple epiphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251	"" []	3187595	\N	\N	EFO	5	EFO	genetic disorder	Multiple epiphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251	"" []	5182193	\N	\N	EFO	7	EFO	disposition	Multiple epiphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251	"" []	4394766	\N	\N	EFO	6	EFO	disease	Multiple epiphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251	"" []	5997553	\N	\N	EFO	8	EFO	material property	Multiple epiphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251	"" []	6550918	\N	\N	EFO	9	EFO	experimental factor	Multiple epiphyseal dysplasia
Orphanet:2510	\N	\N	"" []	Orphanet:2510	"" []	75059	\N	\N	EFO	0	EFO	Micro syndrome	Micro syndrome
Orphanet:102010	Orphanet:2510	\N	"" []	Orphanet:2510	"" []	217423	\N	\N	EFO	1	EFO	Other syndrome with lissencephaly as a major feature	Micro syndrome
Orphanet:102283	Orphanet:2510	\N	"" []	Orphanet:2510	"" []	217424	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Micro syndrome
Orphanet:202948	Orphanet:2510	\N	"" []	Orphanet:2510	"" []	217425	\N	\N	EFO	1	EFO	Syndromic microphthalmia	Micro syndrome
Orphanet:48471	Orphanet:102010	\N	"" []	Orphanet:2510	"" []	572194	\N	\N	EFO	2	EFO	Lissencephaly	Micro syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2510	"" []	572195	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Micro syndrome
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:2510	"" []	572196	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Micro syndrome
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:2510	"" []	1154569	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Micro syndrome
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:2510	"" []	1154570	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Micro syndrome
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:2510	"" []	1154571	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Micro syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2510	"" []	1154572	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Micro syndrome
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:2510	"" []	1154573	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Micro syndrome
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:2510	"" []	2037265	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Micro syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2510	"" []	2037266	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Micro syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2510	"" []	2037267	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Micro syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2510	"" []	4394769	\N	\N	EFO	6	EFO	genetic disorder	Micro syndrome
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:2510	"" []	2037269	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Micro syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2510	"" []	3187596	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Micro syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2510	"" []	3187597	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Micro syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2510	"" []	3187598	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Micro syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2510	"" []	3187599	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Micro syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2510	"" []	5059837	\N	\N	EFO	7	EFO	disease	Micro syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2510	"" []	3187601	\N	\N	EFO	5	EFO	Rare genetic eye disease	Micro syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2510	"" []	3187602	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Micro syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2510	"" []	4394768	\N	\N	EFO	6	EFO	genetic disorder	Micro syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2510	"" []	5877094	\N	\N	EFO	8	EFO	disposition	Micro syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2510	"" []	4394771	\N	\N	EFO	6	EFO	genetic disorder	Micro syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2510	"" []	4394772	\N	\N	EFO	6	EFO	eye disease	Micro syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2510	"" []	6470318	\N	\N	EFO	9	EFO	material property	Micro syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2510	"" []	5412855	\N	\N	EFO	7	EFO	disease	Micro syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2510	"" []	6848463	\N	\N	EFO	10	EFO	experimental factor	Micro syndrome
Orphanet:251004	\N	\N	"" []	Orphanet:251004	"" []	75060	\N	\N	EFO	0	EFO	Paternal uniparental disomy of chromosome 1	Paternal uniparental disomy of chromosome 1
Orphanet:98154	Orphanet:251004	\N	"" []	Orphanet:251004	"" []	217426	\N	\N	EFO	1	EFO	Uniparental disomy of paternal origin	Paternal uniparental disomy of chromosome 1
Orphanet:98152	Orphanet:98154	\N	"" []	Orphanet:251004	"" []	572197	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Paternal uniparental disomy of chromosome 1
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:251004	"" []	1154574	\N	\N	EFO	3	EFO	Autosomal anomaly	Paternal uniparental disomy of chromosome 1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251004	"" []	2037270	\N	\N	EFO	4	EFO	Chromosomal anomaly	Paternal uniparental disomy of chromosome 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251004	"" []	3187603	\N	\N	EFO	5	EFO	genetic disorder	Paternal uniparental disomy of chromosome 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251004	"" []	4394773	\N	\N	EFO	6	EFO	disease	Paternal uniparental disomy of chromosome 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251004	"" []	5412856	\N	\N	EFO	7	EFO	disposition	Paternal uniparental disomy of chromosome 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251004	"" []	6149550	\N	\N	EFO	8	EFO	material property	Paternal uniparental disomy of chromosome 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251004	"" []	6632669	\N	\N	EFO	9	EFO	experimental factor	Paternal uniparental disomy of chromosome 1
Orphanet:251009	\N	\N	"" []	Orphanet:251009	"" []	75061	\N	\N	EFO	0	EFO	Maternal uniparental disomy of chromosome 1	Maternal uniparental disomy of chromosome 1
Orphanet:98153	Orphanet:251009	\N	"" []	Orphanet:251009	"" []	217427	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Maternal uniparental disomy of chromosome 1
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:251009	"" []	572198	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Maternal uniparental disomy of chromosome 1
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:251009	"" []	1154575	\N	\N	EFO	3	EFO	Autosomal anomaly	Maternal uniparental disomy of chromosome 1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251009	"" []	2037271	\N	\N	EFO	4	EFO	Chromosomal anomaly	Maternal uniparental disomy of chromosome 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251009	"" []	3187604	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251009	"" []	4394774	\N	\N	EFO	6	EFO	disease	Maternal uniparental disomy of chromosome 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251009	"" []	5412857	\N	\N	EFO	7	EFO	disposition	Maternal uniparental disomy of chromosome 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251009	"" []	6149551	\N	\N	EFO	8	EFO	material property	Maternal uniparental disomy of chromosome 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251009	"" []	6632670	\N	\N	EFO	9	EFO	experimental factor	Maternal uniparental disomy of chromosome 1
Orphanet:251014	\N	\N	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	Orphanet:251014	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	75062	\N	\N	EFO	0	EFO	2q31.1 microdeletion syndrome	2q31.1 microdeletion syndrome
Orphanet:262010	Orphanet:251014	\N	"" []	Orphanet:251014	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	217428	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 2	2q31.1 microdeletion syndrome
Orphanet:261771	Orphanet:262010	\N	"" []	Orphanet:251014	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	572199	\N	\N	EFO	2	EFO	Partial deletion of chromosome 2	2q31.1 microdeletion syndrome
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:251014	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	1154576	\N	\N	EFO	3	EFO	Partial autosomal monosomy	2q31.1 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:251014	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	2037272	\N	\N	EFO	4	EFO	Autosomal monosomy	2q31.1 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:251014	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	3187605	\N	\N	EFO	5	EFO	Autosomal anomaly	2q31.1 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251014	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	4394775	\N	\N	EFO	6	EFO	Chromosomal anomaly	2q31.1 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251014	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	5412858	\N	\N	EFO	7	EFO	genetic disorder	2q31.1 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251014	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	6149552	\N	\N	EFO	8	EFO	disease	2q31.1 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251014	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	6632671	\N	\N	EFO	9	EFO	disposition	2q31.1 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251014	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	6925605	\N	\N	EFO	10	EFO	material property	2q31.1 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251014	"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." []	7099072	\N	\N	EFO	11	EFO	experimental factor	2q31.1 microdeletion syndrome
Orphanet:251019	\N	\N	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	Orphanet:251019	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	75063	\N	\N	EFO	0	EFO	2q32q33 microdeletion syndrome	2q32q33 microdeletion syndrome
Orphanet:262010	Orphanet:251019	\N	"" []	Orphanet:251019	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	217429	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 2	2q32q33 microdeletion syndrome
Orphanet:261771	Orphanet:262010	\N	"" []	Orphanet:251019	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	572200	\N	\N	EFO	2	EFO	Partial deletion of chromosome 2	2q32q33 microdeletion syndrome
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:251019	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	1154577	\N	\N	EFO	3	EFO	Partial autosomal monosomy	2q32q33 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:251019	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	2037273	\N	\N	EFO	4	EFO	Autosomal monosomy	2q32q33 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:251019	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	3187606	\N	\N	EFO	5	EFO	Autosomal anomaly	2q32q33 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251019	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	4394776	\N	\N	EFO	6	EFO	Chromosomal anomaly	2q32q33 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251019	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	5412859	\N	\N	EFO	7	EFO	genetic disorder	2q32q33 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251019	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	6149553	\N	\N	EFO	8	EFO	disease	2q32q33 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251019	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	6632672	\N	\N	EFO	9	EFO	disposition	2q32q33 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251019	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	6925606	\N	\N	EFO	10	EFO	material property	2q32q33 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251019	"2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." []	7099073	\N	\N	EFO	11	EFO	experimental factor	2q32q33 microdeletion syndrome
Orphanet:251028	\N	\N	"" []	Orphanet:251028	"" []	75064	\N	\N	EFO	0	EFO	2q33.1 microdeletion syndrome	2q33.1 microdeletion syndrome
Orphanet:262010	Orphanet:251028	\N	"" []	Orphanet:251028	"" []	217430	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 2	2q33.1 microdeletion syndrome
Orphanet:261771	Orphanet:262010	\N	"" []	Orphanet:251028	"" []	572201	\N	\N	EFO	2	EFO	Partial deletion of chromosome 2	2q33.1 microdeletion syndrome
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:251028	"" []	1154578	\N	\N	EFO	3	EFO	Partial autosomal monosomy	2q33.1 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:251028	"" []	2037274	\N	\N	EFO	4	EFO	Autosomal monosomy	2q33.1 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:251028	"" []	3187607	\N	\N	EFO	5	EFO	Autosomal anomaly	2q33.1 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251028	"" []	4394777	\N	\N	EFO	6	EFO	Chromosomal anomaly	2q33.1 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251028	"" []	5412860	\N	\N	EFO	7	EFO	genetic disorder	2q33.1 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251028	"" []	6149554	\N	\N	EFO	8	EFO	disease	2q33.1 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251028	"" []	6632673	\N	\N	EFO	9	EFO	disposition	2q33.1 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251028	"" []	6925607	\N	\N	EFO	10	EFO	material property	2q33.1 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251028	"" []	7099074	\N	\N	EFO	11	EFO	experimental factor	2q33.1 microdeletion syndrome
Orphanet:251038	\N	\N	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	Orphanet:251038	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	75065	\N	\N	EFO	0	EFO	3q29 microduplication	3q29 microduplication
Orphanet:262851	Orphanet:251038	\N	"" []	Orphanet:251038	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	217431	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 3	3q29 microduplication
Orphanet:262201	Orphanet:262851	\N	"" []	Orphanet:251038	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	572202	\N	\N	EFO	2	EFO	Partial duplication of chromosome 3	3q29 microduplication
Orphanet:98132	Orphanet:262201	\N	"" []	Orphanet:251038	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	1154579	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	3q29 microduplication
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:251038	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	2037275	\N	\N	EFO	4	EFO	Autosomal trisomy	3q29 microduplication
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:251038	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	3187608	\N	\N	EFO	5	EFO	Autosomal anomaly	3q29 microduplication
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251038	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	4394778	\N	\N	EFO	6	EFO	Chromosomal anomaly	3q29 microduplication
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251038	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	5412861	\N	\N	EFO	7	EFO	genetic disorder	3q29 microduplication
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251038	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	6149555	\N	\N	EFO	8	EFO	disease	3q29 microduplication
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251038	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	6632674	\N	\N	EFO	9	EFO	disposition	3q29 microduplication
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251038	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	6925608	\N	\N	EFO	10	EFO	material property	3q29 microduplication
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251038	"3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." []	7099075	\N	\N	EFO	11	EFO	experimental factor	3q29 microduplication
Orphanet:251043	\N	\N	"" []	Orphanet:251043	"" []	75066	\N	\N	EFO	0	EFO	Ring chromosome 5	Ring chromosome 5
Orphanet:363203	Orphanet:251043	\N	"" []	Orphanet:251043	"" []	217432	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 5
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:251043	"" []	572203	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 5
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:251043	"" []	1154580	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 5
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251043	"" []	2037276	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 5
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251043	"" []	3187609	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251043	"" []	4394779	\N	\N	EFO	6	EFO	disease	Ring chromosome 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251043	"" []	5412862	\N	\N	EFO	7	EFO	disposition	Ring chromosome 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251043	"" []	6149556	\N	\N	EFO	8	EFO	material property	Ring chromosome 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251043	"" []	6632675	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 5
Orphanet:251046	\N	\N	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	Orphanet:251046	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	75067	\N	\N	EFO	0	EFO	6p22 microdeletion syndrome	6p22 microdeletion syndrome
Orphanet:261902	Orphanet:251046	\N	"" []	Orphanet:251046	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	217433	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 6	6p22 microdeletion syndrome
Orphanet:261791	Orphanet:261902	\N	"" []	Orphanet:251046	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	572204	\N	\N	EFO	2	EFO	Partial deletion of chromosome 6	6p22 microdeletion syndrome
Orphanet:98142	Orphanet:261791	\N	"" []	Orphanet:251046	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	1154581	\N	\N	EFO	3	EFO	Partial autosomal monosomy	6p22 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:251046	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	2037277	\N	\N	EFO	4	EFO	Autosomal monosomy	6p22 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:251046	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	3187610	\N	\N	EFO	5	EFO	Autosomal anomaly	6p22 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251046	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	4394780	\N	\N	EFO	6	EFO	Chromosomal anomaly	6p22 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251046	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	5412863	\N	\N	EFO	7	EFO	genetic disorder	6p22 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251046	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	6149557	\N	\N	EFO	8	EFO	disease	6p22 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251046	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	6632676	\N	\N	EFO	9	EFO	disposition	6p22 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251046	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	6925609	\N	\N	EFO	10	EFO	material property	6p22 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251046	"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." []	7099076	\N	\N	EFO	11	EFO	experimental factor	6p22 microdeletion syndrome
Orphanet:251056	\N	\N	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	Orphanet:251056	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	75068	\N	\N	EFO	0	EFO	6q25 microdeletion syndrome	6q25 microdeletion syndrome
Orphanet:262047	Orphanet:251056	\N	"" []	Orphanet:251056	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	217434	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 6	6q25 microdeletion syndrome
Orphanet:261791	Orphanet:262047	\N	"" []	Orphanet:251056	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	572205	\N	\N	EFO	2	EFO	Partial deletion of chromosome 6	6q25 microdeletion syndrome
Orphanet:98142	Orphanet:261791	\N	"" []	Orphanet:251056	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	1154582	\N	\N	EFO	3	EFO	Partial autosomal monosomy	6q25 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:251056	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	2037278	\N	\N	EFO	4	EFO	Autosomal monosomy	6q25 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:251056	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	3187611	\N	\N	EFO	5	EFO	Autosomal anomaly	6q25 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251056	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	4394781	\N	\N	EFO	6	EFO	Chromosomal anomaly	6q25 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251056	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	5412864	\N	\N	EFO	7	EFO	genetic disorder	6q25 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251056	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	6149558	\N	\N	EFO	8	EFO	disease	6q25 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251056	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	6632677	\N	\N	EFO	9	EFO	disposition	6q25 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251056	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	6925610	\N	\N	EFO	10	EFO	material property	6q25 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251056	"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." []	7099077	\N	\N	EFO	11	EFO	experimental factor	6q25 microdeletion syndrome
Orphanet:251061	\N	\N	"" []	Orphanet:251061	"" []	75069	\N	\N	EFO	0	EFO	7q31 microdeletion syndrome	7q31 microdeletion syndrome
Orphanet:262056	Orphanet:251061	\N	"" []	Orphanet:251061	"" []	217435	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 7	7q31 microdeletion syndrome
Orphanet:261796	Orphanet:262056	\N	"" []	Orphanet:251061	"" []	572206	\N	\N	EFO	2	EFO	Partial deletion of chromosome 7	7q31 microdeletion syndrome
Orphanet:98142	Orphanet:261796	\N	"" []	Orphanet:251061	"" []	1154583	\N	\N	EFO	3	EFO	Partial autosomal monosomy	7q31 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:251061	"" []	2037279	\N	\N	EFO	4	EFO	Autosomal monosomy	7q31 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:251061	"" []	3187612	\N	\N	EFO	5	EFO	Autosomal anomaly	7q31 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251061	"" []	4394782	\N	\N	EFO	6	EFO	Chromosomal anomaly	7q31 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251061	"" []	5412865	\N	\N	EFO	7	EFO	genetic disorder	7q31 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251061	"" []	6149559	\N	\N	EFO	8	EFO	disease	7q31 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251061	"" []	6632678	\N	\N	EFO	9	EFO	disposition	7q31 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251061	"" []	6925611	\N	\N	EFO	10	EFO	material property	7q31 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251061	"" []	7099078	\N	\N	EFO	11	EFO	experimental factor	7q31 microdeletion syndrome
Orphanet:251066	\N	\N	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	Orphanet:251066	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	75070	\N	\N	EFO	0	EFO	8p11.2 deletion syndrome	8p11.2 deletion syndrome
Orphanet:261920	Orphanet:251066	\N	"" []	Orphanet:251066	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	217436	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 8	8p11.2 deletion syndrome
Orphanet:261801	Orphanet:261920	\N	"" []	Orphanet:251066	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	572207	\N	\N	EFO	2	EFO	Partial deletion of chromosome 8	8p11.2 deletion syndrome
Orphanet:98142	Orphanet:261801	\N	"" []	Orphanet:251066	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	1154584	\N	\N	EFO	3	EFO	Partial autosomal monosomy	8p11.2 deletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:251066	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	2037280	\N	\N	EFO	4	EFO	Autosomal monosomy	8p11.2 deletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:251066	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	3187613	\N	\N	EFO	5	EFO	Autosomal anomaly	8p11.2 deletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251066	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	4394783	\N	\N	EFO	6	EFO	Chromosomal anomaly	8p11.2 deletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251066	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	5412866	\N	\N	EFO	7	EFO	genetic disorder	8p11.2 deletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251066	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	6149560	\N	\N	EFO	8	EFO	disease	8p11.2 deletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251066	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	6632679	\N	\N	EFO	9	EFO	disposition	8p11.2 deletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251066	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	6925612	\N	\N	EFO	10	EFO	material property	8p11.2 deletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251066	"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." []	7099079	\N	\N	EFO	11	EFO	experimental factor	8p11.2 deletion syndrome
Orphanet:251071	\N	\N	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	75071	\N	\N	EFO	0	EFO	8p23.1 microdeletion syndrome	8p23.1 microdeletion syndrome
Orphanet:165707	Orphanet:251071	\N	"" []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	217437	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	8p23.1 microdeletion syndrome
Orphanet:261920	Orphanet:251071	\N	"" []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	217438	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 8	8p23.1 microdeletion syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	572208	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	8p23.1 microdeletion syndrome
Orphanet:261801	Orphanet:261920	\N	"" []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	572209	\N	\N	EFO	2	EFO	Partial deletion of chromosome 8	8p23.1 microdeletion syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	1154585	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	8p23.1 microdeletion syndrome
Orphanet:98142	Orphanet:261801	\N	"" []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	1154586	\N	\N	EFO	3	EFO	Partial autosomal monosomy	8p23.1 microdeletion syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	2037281	\N	\N	EFO	4	EFO	genetic disorder	8p23.1 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	2037282	\N	\N	EFO	4	EFO	Autosomal monosomy	8p23.1 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	6149562	\N	\N	EFO	8	EFO	disease	8p23.1 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	3187615	\N	\N	EFO	5	EFO	Autosomal anomaly	8p23.1 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	6410006	\N	\N	EFO	9	EFO	disposition	8p23.1 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	4394785	\N	\N	EFO	6	EFO	Chromosomal anomaly	8p23.1 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	6807855	\N	\N	EFO	10	EFO	material property	8p23.1 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	5412868	\N	\N	EFO	7	EFO	genetic disorder	8p23.1 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251071	"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." []	7048628	\N	\N	EFO	11	EFO	experimental factor	8p23.1 microdeletion syndrome
Orphanet:251076	\N	\N	"" []	Orphanet:251076	"" []	75072	\N	\N	EFO	0	EFO	8p23.1 microduplication syndrome	8p23.1 microduplication syndrome
Orphanet:262758	Orphanet:251076	\N	"" []	Orphanet:251076	"" []	217439	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 8	8p23.1 microduplication syndrome
Orphanet:262638	Orphanet:262758	\N	"" []	Orphanet:251076	"" []	572210	\N	\N	EFO	2	EFO	Partial duplication of chromosome 8	8p23.1 microduplication syndrome
Orphanet:98132	Orphanet:262638	\N	"" []	Orphanet:251076	"" []	1154587	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	8p23.1 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:251076	"" []	2037283	\N	\N	EFO	4	EFO	Autosomal trisomy	8p23.1 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:251076	"" []	3187616	\N	\N	EFO	5	EFO	Autosomal anomaly	8p23.1 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:251076	"" []	4394786	\N	\N	EFO	6	EFO	Chromosomal anomaly	8p23.1 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251076	"" []	5412869	\N	\N	EFO	7	EFO	genetic disorder	8p23.1 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251076	"" []	6149563	\N	\N	EFO	8	EFO	disease	8p23.1 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251076	"" []	6632680	\N	\N	EFO	9	EFO	disposition	8p23.1 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251076	"" []	6925613	\N	\N	EFO	10	EFO	material property	8p23.1 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251076	"" []	7099080	\N	\N	EFO	11	EFO	experimental factor	8p23.1 microduplication syndrome
Orphanet:2511	\N	\N	"" []	Orphanet:2511	"" []	75073	\N	\N	EFO	0	EFO	Microbrachycephaly - ptosis - cleft lip	Microbrachycephaly - ptosis - cleft lip
Orphanet:102283	Orphanet:2511	\N	"" []	Orphanet:2511	"" []	217440	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microbrachycephaly - ptosis - cleft lip
Orphanet:139039	Orphanet:2511	\N	"" []	Orphanet:2511	"" []	217441	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Microbrachycephaly - ptosis - cleft lip
Orphanet:183763	Orphanet:2511	\N	"" []	Orphanet:2511	"" []	217442	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microbrachycephaly - ptosis - cleft lip
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2511	"" []	572211	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microbrachycephaly - ptosis - cleft lip
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2511	"" []	572212	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Microbrachycephaly - ptosis - cleft lip
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2511	"" []	572213	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microbrachycephaly - ptosis - cleft lip
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2511	"" []	1154588	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microbrachycephaly - ptosis - cleft lip
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2511	"" []	1154589	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Microbrachycephaly - ptosis - cleft lip
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2511	"" []	1154590	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microbrachycephaly - ptosis - cleft lip
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2511	"" []	4394788	\N	\N	EFO	6	EFO	genetic disorder	Microbrachycephaly - ptosis - cleft lip
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2511	"" []	2037285	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Microbrachycephaly - ptosis - cleft lip
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2511	"" []	2037286	\N	\N	EFO	4	EFO	genetic disorder	Microbrachycephaly - ptosis - cleft lip
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2511	"" []	5059838	\N	\N	EFO	7	EFO	disease	Microbrachycephaly - ptosis - cleft lip
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2511	"" []	3187618	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microbrachycephaly - ptosis - cleft lip
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2511	"" []	5877095	\N	\N	EFO	8	EFO	disposition	Microbrachycephaly - ptosis - cleft lip
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2511	"" []	6470319	\N	\N	EFO	9	EFO	material property	Microbrachycephaly - ptosis - cleft lip
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2511	"" []	6848464	\N	\N	EFO	10	EFO	experimental factor	Microbrachycephaly - ptosis - cleft lip
Orphanet:2512	\N	\N	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	75074	\N	\N	EFO	0	EFO	Autosomal recessive primary microcephaly	Autosomal recessive primary microcephaly
Orphanet:199642	Orphanet:2512	\N	"" []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	217443	\N	\N	EFO	1	EFO	Isolated congenital microcephaly	Autosomal recessive primary microcephaly
Orphanet:98692	Orphanet:2512	\N	"" []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	217444	\N	\N	EFO	1	EFO	Nervous system anomaly with eye involvement	Autosomal recessive primary microcephaly
Orphanet:269553	Orphanet:199642	\N	"" []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	572214	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Autosomal recessive primary microcephaly
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	572215	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive primary microcephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	1154591	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Autosomal recessive primary microcephaly
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	1154592	\N	\N	EFO	3	EFO	Rare genetic eye disease	Autosomal recessive primary microcephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	2037287	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Autosomal recessive primary microcephaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	2037288	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive primary microcephaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	2037289	\N	\N	EFO	4	EFO	eye disease	Autosomal recessive primary microcephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	3187619	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive primary microcephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	3187620	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive primary microcephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	5412871	\N	\N	EFO	7	EFO	disease	Autosomal recessive primary microcephaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	3187622	\N	\N	EFO	5	EFO	disease	Autosomal recessive primary microcephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	4394789	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive primary microcephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	4394790	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive primary microcephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	5877096	\N	\N	EFO	8	EFO	disposition	Autosomal recessive primary microcephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	6470320	\N	\N	EFO	9	EFO	material property	Autosomal recessive primary microcephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2512	"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." []	6848465	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive primary microcephaly
Orphanet:251262	\N	\N	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	75075	\N	\N	EFO	0	EFO	Familial osteochondritis dissecans	Familial osteochondritis dissecans
Orphanet:364817	Orphanet:251262	\N	"" []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	217445	\N	\N	EFO	1	EFO	Aggrecan-related bone disorder	Familial osteochondritis dissecans
Orphanet:399380	Orphanet:251262	\N	"" []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	217446	\N	\N	EFO	1	EFO	Osteonecrosis of genetic origin	Familial osteochondritis dissecans
Orphanet:364803	Orphanet:364817	\N	"" []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	572216	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Familial osteochondritis dissecans
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	572217	\N	\N	EFO	2	EFO	Rare genetic bone disease	Familial osteochondritis dissecans
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	1154593	\N	\N	EFO	3	EFO	Rare genetic bone disease	Familial osteochondritis dissecans
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	2037290	\N	\N	EFO	4	EFO	genetic disorder	Familial osteochondritis dissecans
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	2037291	\N	\N	EFO	4	EFO	bone disease	Familial osteochondritis dissecans
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	3000249	\N	\N	EFO	5	EFO	disease	Familial osteochondritis dissecans
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	3000250	\N	\N	EFO	5	EFO	skeletal system disease	Familial osteochondritis dissecans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	5182195	\N	\N	EFO	7	EFO	disposition	Familial osteochondritis dissecans
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	4133670	\N	\N	EFO	6	EFO	disease	Familial osteochondritis dissecans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	5877097	\N	\N	EFO	8	EFO	material property	Familial osteochondritis dissecans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251262	"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." []	6470321	\N	\N	EFO	9	EFO	experimental factor	Familial osteochondritis dissecans
Orphanet:251274	\N	\N	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	Orphanet:251274	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	75076	\N	\N	EFO	0	EFO	Familial hyperaldosteronism type III	Familial hyperaldosteronism type III
Orphanet:235936	Orphanet:251274	\N	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	Orphanet:251274	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	217447	\N	\N	EFO	1	EFO	Familial hyperaldosteronism	Familial hyperaldosteronism type III
Orphanet:371861	Orphanet:235936	\N	"" []	Orphanet:251274	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	572218	\N	\N	EFO	2	EFO	Genetic hyperaldosteronism	Familial hyperaldosteronism type III
Orphanet:183637	Orphanet:371861	\N	"" []	Orphanet:251274	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	1154596	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Familial hyperaldosteronism type III
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:251274	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	2037294	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Familial hyperaldosteronism type III
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251274	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	3187625	\N	\N	EFO	5	EFO	genetic disorder	Familial hyperaldosteronism type III
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:251274	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	3187626	\N	\N	EFO	5	EFO	endocrine system disease	Familial hyperaldosteronism type III
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251274	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	4394793	\N	\N	EFO	6	EFO	disease	Familial hyperaldosteronism type III
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251274	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	4394794	\N	\N	EFO	6	EFO	disease	Familial hyperaldosteronism type III
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251274	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	5412874	\N	\N	EFO	7	EFO	disposition	Familial hyperaldosteronism type III
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251274	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	6149566	\N	\N	EFO	8	EFO	material property	Familial hyperaldosteronism type III
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251274	"Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." []	6632681	\N	\N	EFO	9	EFO	experimental factor	Familial hyperaldosteronism type III
Orphanet:251279	\N	\N	"" []	Orphanet:251279	"" []	75077	\N	\N	EFO	0	EFO	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Orphanet:2542	Orphanet:251279	\N	"" []	Orphanet:251279	"" []	217448	\N	\N	EFO	1	EFO	Isolated anophthalmia - microphthalmia	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Orphanet:108985	Orphanet:2542	\N	"" []	Orphanet:251279	"" []	572219	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Orphanet:98555	Orphanet:2542	\N	"" []	Orphanet:251279	"" []	572220	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:251279	"" []	1154597	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:251279	"" []	1154598	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:251279	"" []	3187630	\N	\N	EFO	5	EFO	Rare genetic eye disease	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:251279	"" []	3187631	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:251279	"" []	2037297	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251279	"" []	4133671	\N	\N	EFO	6	EFO	genetic disorder	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:251279	"" []	4133672	\N	\N	EFO	6	EFO	eye disease	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251279	"" []	4133673	\N	\N	EFO	6	EFO	genetic disorder	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251279	"" []	5182196	\N	\N	EFO	7	EFO	disease	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251279	"" []	5182197	\N	\N	EFO	7	EFO	disease	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251279	"" []	5997555	\N	\N	EFO	8	EFO	disposition	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251279	"" []	6550919	\N	\N	EFO	9	EFO	material property	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251279	"" []	6889170	\N	\N	EFO	10	EFO	experimental factor	Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Orphanet:251282	\N	\N	"" []	Orphanet:251282	"" []	75078	\N	\N	EFO	0	EFO	Autosomal dominant spastic ataxia type 1	Autosomal dominant spastic ataxia type 1
Orphanet:316235	Orphanet:251282	\N	"" []	Orphanet:251282	"" []	217449	\N	\N	EFO	1	EFO	Autosomal dominant spastic ataxia	Autosomal dominant spastic ataxia type 1
Orphanet:316226	Orphanet:316235	\N	"" []	Orphanet:251282	"" []	572221	\N	\N	EFO	2	EFO	Spastic ataxia	Autosomal dominant spastic ataxia type 1
Orphanet:183518	Orphanet:316226	\N	"" []	Orphanet:251282	"" []	1154599	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal dominant spastic ataxia type 1
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:251282	"" []	2037298	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant spastic ataxia type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251282	"" []	3187632	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant spastic ataxia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251282	"" []	4394797	\N	\N	EFO	6	EFO	disease	Autosomal dominant spastic ataxia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251282	"" []	5412876	\N	\N	EFO	7	EFO	disposition	Autosomal dominant spastic ataxia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251282	"" []	6149568	\N	\N	EFO	8	EFO	material property	Autosomal dominant spastic ataxia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251282	"" []	6632683	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant spastic ataxia type 1
Orphanet:251287	\N	\N	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	Orphanet:251287	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	75079	\N	\N	EFO	0	EFO	Benign concentric annular macular dystrophy	Benign concentric annular macular dystrophy
Orphanet:98664	Orphanet:251287	\N	"" []	Orphanet:251287	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	217450	\N	\N	EFO	1	EFO	Genetic macular dystrophy	Benign concentric annular macular dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:251287	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	572222	\N	\N	EFO	2	EFO	Retinal dystrophy	Benign concentric annular macular dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:251287	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	1154600	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Benign concentric annular macular dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:251287	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	2037299	\N	\N	EFO	4	EFO	Rare genetic eye disease	Benign concentric annular macular dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251287	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	3187633	\N	\N	EFO	5	EFO	genetic disorder	Benign concentric annular macular dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:251287	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	3187634	\N	\N	EFO	5	EFO	eye disease	Benign concentric annular macular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251287	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	4394798	\N	\N	EFO	6	EFO	disease	Benign concentric annular macular dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251287	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	4394799	\N	\N	EFO	6	EFO	disease	Benign concentric annular macular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251287	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	5412877	\N	\N	EFO	7	EFO	disposition	Benign concentric annular macular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251287	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	6149569	\N	\N	EFO	8	EFO	material property	Benign concentric annular macular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251287	"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull?s eye configuration." []	6632684	\N	\N	EFO	9	EFO	experimental factor	Benign concentric annular macular dystrophy
Orphanet:251290	\N	\N	"" []	Orphanet:251290	"" []	75080	\N	\N	EFO	0	EFO	Parietal foramina with cleidocranial dysplasia	Parietal foramina with cleidocranial dysplasia
Orphanet:93451	Orphanet:251290	\N	"" []	Orphanet:251290	"" []	217451	\N	\N	EFO	1	EFO	Cleidocranial dysplasia and isolated cranial ossification defect	Parietal foramina with cleidocranial dysplasia
Orphanet:364526	Orphanet:93451	\N	"" []	Orphanet:251290	"" []	572223	\N	\N	EFO	2	EFO	Primary bone dysplasia	Parietal foramina with cleidocranial dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:251290	"" []	1154601	\N	\N	EFO	3	EFO	Rare genetic bone disease	Parietal foramina with cleidocranial dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:251290	"" []	1154602	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Parietal foramina with cleidocranial dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251290	"" []	2037300	\N	\N	EFO	4	EFO	genetic disorder	Parietal foramina with cleidocranial dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:251290	"" []	2037301	\N	\N	EFO	4	EFO	bone disease	Parietal foramina with cleidocranial dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:251290	"" []	2037302	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Parietal foramina with cleidocranial dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251290	"" []	4394802	\N	\N	EFO	6	EFO	disease	Parietal foramina with cleidocranial dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:251290	"" []	3187636	\N	\N	EFO	5	EFO	skeletal system disease	Parietal foramina with cleidocranial dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251290	"" []	3187637	\N	\N	EFO	5	EFO	genetic disorder	Parietal foramina with cleidocranial dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251290	"" []	5182198	\N	\N	EFO	7	EFO	disposition	Parietal foramina with cleidocranial dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251290	"" []	4394801	\N	\N	EFO	6	EFO	disease	Parietal foramina with cleidocranial dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251290	"" []	5997556	\N	\N	EFO	8	EFO	material property	Parietal foramina with cleidocranial dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251290	"" []	6550920	\N	\N	EFO	9	EFO	experimental factor	Parietal foramina with cleidocranial dysplasia
Orphanet:251295	\N	\N	"" []	Orphanet:251295	"" []	75081	\N	\N	EFO	0	EFO	Pigmented paravenous retinochoroidal atrophy	Pigmented paravenous retinochoroidal atrophy
Orphanet:71862	Orphanet:251295	\N	"" []	Orphanet:251295	"" []	217452	\N	\N	EFO	1	EFO	Retinal dystrophy	Pigmented paravenous retinochoroidal atrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:251295	"" []	572224	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Pigmented paravenous retinochoroidal atrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:251295	"" []	1154603	\N	\N	EFO	3	EFO	Rare genetic eye disease	Pigmented paravenous retinochoroidal atrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251295	"" []	2037303	\N	\N	EFO	4	EFO	genetic disorder	Pigmented paravenous retinochoroidal atrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:251295	"" []	2037304	\N	\N	EFO	4	EFO	eye disease	Pigmented paravenous retinochoroidal atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251295	"" []	3187638	\N	\N	EFO	5	EFO	disease	Pigmented paravenous retinochoroidal atrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251295	"" []	3187639	\N	\N	EFO	5	EFO	disease	Pigmented paravenous retinochoroidal atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251295	"" []	4394803	\N	\N	EFO	6	EFO	disposition	Pigmented paravenous retinochoroidal atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251295	"" []	5412879	\N	\N	EFO	7	EFO	material property	Pigmented paravenous retinochoroidal atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251295	"" []	6149571	\N	\N	EFO	8	EFO	experimental factor	Pigmented paravenous retinochoroidal atrophy
Orphanet:2513	\N	\N	"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." []	Orphanet:2513	"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." []	75082	\N	\N	EFO	0	EFO	Microcephaly - albinism - digital anomalies	Microcephaly - albinism - digital anomalies
Orphanet:330206	Orphanet:2513	\N	"" []	Orphanet:2513	"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." []	217453	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Microcephaly - albinism - digital anomalies
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2513	"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." []	572225	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly - albinism - digital anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2513	"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." []	1154604	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - albinism - digital anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2513	"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." []	2037305	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - albinism - digital anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2513	"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." []	3187640	\N	\N	EFO	5	EFO	disease	Microcephaly - albinism - digital anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2513	"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." []	4394804	\N	\N	EFO	6	EFO	disposition	Microcephaly - albinism - digital anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2513	"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." []	5412880	\N	\N	EFO	7	EFO	material property	Microcephaly - albinism - digital anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2513	"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." []	6149572	\N	\N	EFO	8	EFO	experimental factor	Microcephaly - albinism - digital anomalies
Orphanet:251347	\N	\N	"" []	Orphanet:251347	"" []	75083	\N	\N	EFO	0	EFO	Ataxia-telangiectasia-like disorder	Ataxia-telangiectasia-like disorder
Orphanet:169346	Orphanet:251347	\N	"" []	Orphanet:251347	"" []	217454	\N	\N	EFO	1	EFO	DNA repair defect other than combined T-cell and B-cell immunodeficiencies	Ataxia-telangiectasia-like disorder
Orphanet:183422	Orphanet:251347	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:251347	"" []	217455	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Ataxia-telangiectasia-like disorder
Orphanet:98097	Orphanet:251347	\N	"" []	Orphanet:251347	"" []	217456	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Ataxia-telangiectasia-like disorder
Orphanet:331217	Orphanet:169346	\N	"" []	Orphanet:251347	"" []	572226	\N	\N	EFO	2	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Ataxia-telangiectasia-like disorder
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:251347	"" []	572227	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Ataxia-telangiectasia-like disorder
Orphanet:1172	Orphanet:98097	\N	"" []	Orphanet:251347	"" []	572228	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Ataxia-telangiectasia-like disorder
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:251347	"" []	1154605	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Ataxia-telangiectasia-like disorder
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251347	"" []	1154606	\N	\N	EFO	3	EFO	genetic disorder	Ataxia-telangiectasia-like disorder
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:251347	"" []	1154607	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Ataxia-telangiectasia-like disorder
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:251347	"" []	1154608	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Ataxia-telangiectasia-like disorder
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:251347	"" []	1154609	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Ataxia-telangiectasia-like disorder
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:251347	"" []	2037306	\N	\N	EFO	4	EFO	Primary immunodeficiency	Ataxia-telangiectasia-like disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251347	"" []	6410008	\N	\N	EFO	9	EFO	disease	Ataxia-telangiectasia-like disorder
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:251347	"" []	2037308	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Ataxia-telangiectasia-like disorder
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:251347	"" []	2037309	\N	\N	EFO	4	EFO	Ataxia with dementia	Ataxia-telangiectasia-like disorder
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:251347	"" []	2037310	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Ataxia-telangiectasia-like disorder
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:251347	"" []	3187641	\N	\N	EFO	5	EFO	Rare genetic immune disease	Ataxia-telangiectasia-like disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251347	"" []	6762371	\N	\N	EFO	10	EFO	disposition	Ataxia-telangiectasia-like disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251347	"" []	6149574	\N	\N	EFO	8	EFO	genetic disorder	Ataxia-telangiectasia-like disorder
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:251347	"" []	3187644	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Ataxia-telangiectasia-like disorder
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:251347	"" []	3187645	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Ataxia-telangiectasia-like disorder
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251347	"" []	4394805	\N	\N	EFO	6	EFO	genetic disorder	Ataxia-telangiectasia-like disorder
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:251347	"" []	4394806	\N	\N	EFO	6	EFO	immune system disease	Ataxia-telangiectasia-like disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251347	"" []	7015679	\N	\N	EFO	11	EFO	material property	Ataxia-telangiectasia-like disorder
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:251347	"" []	4394809	\N	\N	EFO	6	EFO	Genetic dementia	Ataxia-telangiectasia-like disorder
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:251347	"" []	4394810	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Ataxia-telangiectasia-like disorder
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:251347	"" []	4394811	\N	\N	EFO	6	EFO	Rare genetic eye disease	Ataxia-telangiectasia-like disorder
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251347	"" []	5412882	\N	\N	EFO	7	EFO	disease	Ataxia-telangiectasia-like disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251347	"" []	7173626	\N	\N	EFO	12	EFO	experimental factor	Ataxia-telangiectasia-like disorder
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:251347	"" []	5412884	\N	\N	EFO	7	EFO	brain disease	Ataxia-telangiectasia-like disorder
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:251347	"" []	5412885	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Ataxia-telangiectasia-like disorder
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:251347	"" []	5412886	\N	\N	EFO	7	EFO	neurodegenerative disease	Ataxia-telangiectasia-like disorder
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:251347	"" []	5412887	\N	\N	EFO	7	EFO	brain disease	Ataxia-telangiectasia-like disorder
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:251347	"" []	5412888	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Ataxia-telangiectasia-like disorder
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251347	"" []	5412889	\N	\N	EFO	7	EFO	genetic disorder	Ataxia-telangiectasia-like disorder
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:251347	"" []	5412890	\N	\N	EFO	7	EFO	eye disease	Ataxia-telangiectasia-like disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:251347	"" []	6149573	\N	\N	EFO	8	EFO	nervous system disease	Ataxia-telangiectasia-like disorder
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:251347	"" []	6149575	\N	\N	EFO	8	EFO	nervous system disease	Ataxia-telangiectasia-like disorder
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251347	"" []	6149577	\N	\N	EFO	8	EFO	disease	Ataxia-telangiectasia-like disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251347	"" []	6632685	\N	\N	EFO	9	EFO	disease	Ataxia-telangiectasia-like disorder
Orphanet:251355	\N	\N	"" []	Orphanet:251355	"" []	75084	\N	\N	EFO	0	EFO	Sickle cell disease associated with an other hemoglobin anomaly	Sickle cell disease associated with an other hemoglobin anomaly
Orphanet:275752	Orphanet:251355	\N	"" []	Orphanet:251355	"" []	217457	\N	\N	EFO	1	EFO	Sickle cell disease and related diseases	Sickle cell disease associated with an other hemoglobin anomaly
Orphanet:68364	Orphanet:275752	\N	"" []	Orphanet:251355	"" []	572229	\N	\N	EFO	2	EFO	Hemoglobinopathy	Sickle cell disease associated with an other hemoglobin anomaly
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:251355	"" []	1154610	\N	\N	EFO	3	EFO	Rare constitutional anemia	Sickle cell disease associated with an other hemoglobin anomaly
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:251355	"" []	2037311	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Sickle cell disease associated with an other hemoglobin anomaly
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251355	"" []	3187646	\N	\N	EFO	5	EFO	genetic disorder	Sickle cell disease associated with an other hemoglobin anomaly
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:251355	"" []	3187647	\N	\N	EFO	5	EFO	hematological system disease	Sickle cell disease associated with an other hemoglobin anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251355	"" []	4394812	\N	\N	EFO	6	EFO	disease	Sickle cell disease associated with an other hemoglobin anomaly
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251355	"" []	4394813	\N	\N	EFO	6	EFO	disease	Sickle cell disease associated with an other hemoglobin anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251355	"" []	5412891	\N	\N	EFO	7	EFO	disposition	Sickle cell disease associated with an other hemoglobin anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251355	"" []	6149578	\N	\N	EFO	8	EFO	material property	Sickle cell disease associated with an other hemoglobin anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251355	"" []	6632686	\N	\N	EFO	9	EFO	experimental factor	Sickle cell disease associated with an other hemoglobin anomaly
Orphanet:251359	\N	\N	"" []	Orphanet:251359	"" []	75085	\N	\N	EFO	0	EFO	Sickle cell - beta-thalassemia disease	Sickle cell - beta-thalassemia disease
Orphanet:251355	Orphanet:251359	\N	"" []	Orphanet:251359	"" []	217458	\N	\N	EFO	1	EFO	Sickle cell disease associated with an other hemoglobin anomaly	Sickle cell - beta-thalassemia disease
Orphanet:275752	Orphanet:251355	\N	"" []	Orphanet:251359	"" []	572230	\N	\N	EFO	2	EFO	Sickle cell disease and related diseases	Sickle cell - beta-thalassemia disease
Orphanet:68364	Orphanet:275752	\N	"" []	Orphanet:251359	"" []	1154611	\N	\N	EFO	3	EFO	Hemoglobinopathy	Sickle cell - beta-thalassemia disease
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:251359	"" []	2037312	\N	\N	EFO	4	EFO	Rare constitutional anemia	Sickle cell - beta-thalassemia disease
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:251359	"" []	3187648	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Sickle cell - beta-thalassemia disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251359	"" []	4394814	\N	\N	EFO	6	EFO	genetic disorder	Sickle cell - beta-thalassemia disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:251359	"" []	4394815	\N	\N	EFO	6	EFO	hematological system disease	Sickle cell - beta-thalassemia disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251359	"" []	5412892	\N	\N	EFO	7	EFO	disease	Sickle cell - beta-thalassemia disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251359	"" []	5412893	\N	\N	EFO	7	EFO	disease	Sickle cell - beta-thalassemia disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251359	"" []	6149579	\N	\N	EFO	8	EFO	disposition	Sickle cell - beta-thalassemia disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251359	"" []	6632687	\N	\N	EFO	9	EFO	material property	Sickle cell - beta-thalassemia disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251359	"" []	6925614	\N	\N	EFO	10	EFO	experimental factor	Sickle cell - beta-thalassemia disease
Orphanet:251365	\N	\N	"" []	Orphanet:251365	"" []	75086	\N	\N	EFO	0	EFO	Sickle cell - hemoglobin C disease	Sickle cell - hemoglobin C disease
Orphanet:251355	Orphanet:251365	\N	"" []	Orphanet:251365	"" []	217459	\N	\N	EFO	1	EFO	Sickle cell disease associated with an other hemoglobin anomaly	Sickle cell - hemoglobin C disease
Orphanet:275752	Orphanet:251355	\N	"" []	Orphanet:251365	"" []	572231	\N	\N	EFO	2	EFO	Sickle cell disease and related diseases	Sickle cell - hemoglobin C disease
Orphanet:68364	Orphanet:275752	\N	"" []	Orphanet:251365	"" []	1154612	\N	\N	EFO	3	EFO	Hemoglobinopathy	Sickle cell - hemoglobin C disease
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:251365	"" []	2037313	\N	\N	EFO	4	EFO	Rare constitutional anemia	Sickle cell - hemoglobin C disease
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:251365	"" []	3187649	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Sickle cell - hemoglobin C disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251365	"" []	4394816	\N	\N	EFO	6	EFO	genetic disorder	Sickle cell - hemoglobin C disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:251365	"" []	4394817	\N	\N	EFO	6	EFO	hematological system disease	Sickle cell - hemoglobin C disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251365	"" []	5412894	\N	\N	EFO	7	EFO	disease	Sickle cell - hemoglobin C disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251365	"" []	5412895	\N	\N	EFO	7	EFO	disease	Sickle cell - hemoglobin C disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251365	"" []	6149580	\N	\N	EFO	8	EFO	disposition	Sickle cell - hemoglobin C disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251365	"" []	6632688	\N	\N	EFO	9	EFO	material property	Sickle cell - hemoglobin C disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251365	"" []	6925615	\N	\N	EFO	10	EFO	experimental factor	Sickle cell - hemoglobin C disease
Orphanet:251370	\N	\N	"" []	Orphanet:251370	"" []	75087	\N	\N	EFO	0	EFO	Sickle cell - hemoglobin D disease	Sickle cell - hemoglobin D disease
Orphanet:251355	Orphanet:251370	\N	"" []	Orphanet:251370	"" []	217460	\N	\N	EFO	1	EFO	Sickle cell disease associated with an other hemoglobin anomaly	Sickle cell - hemoglobin D disease
Orphanet:275752	Orphanet:251355	\N	"" []	Orphanet:251370	"" []	572232	\N	\N	EFO	2	EFO	Sickle cell disease and related diseases	Sickle cell - hemoglobin D disease
Orphanet:68364	Orphanet:275752	\N	"" []	Orphanet:251370	"" []	1154613	\N	\N	EFO	3	EFO	Hemoglobinopathy	Sickle cell - hemoglobin D disease
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:251370	"" []	2037314	\N	\N	EFO	4	EFO	Rare constitutional anemia	Sickle cell - hemoglobin D disease
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:251370	"" []	3187650	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Sickle cell - hemoglobin D disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251370	"" []	4394818	\N	\N	EFO	6	EFO	genetic disorder	Sickle cell - hemoglobin D disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:251370	"" []	4394819	\N	\N	EFO	6	EFO	hematological system disease	Sickle cell - hemoglobin D disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251370	"" []	5412896	\N	\N	EFO	7	EFO	disease	Sickle cell - hemoglobin D disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251370	"" []	5412897	\N	\N	EFO	7	EFO	disease	Sickle cell - hemoglobin D disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251370	"" []	6149581	\N	\N	EFO	8	EFO	disposition	Sickle cell - hemoglobin D disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251370	"" []	6632689	\N	\N	EFO	9	EFO	material property	Sickle cell - hemoglobin D disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251370	"" []	6925616	\N	\N	EFO	10	EFO	experimental factor	Sickle cell - hemoglobin D disease
Orphanet:251375	\N	\N	"" []	Orphanet:251375	"" []	75088	\N	\N	EFO	0	EFO	Sickle cell - hemoglobin E disease	Sickle cell - hemoglobin E disease
Orphanet:251355	Orphanet:251375	\N	"" []	Orphanet:251375	"" []	217461	\N	\N	EFO	1	EFO	Sickle cell disease associated with an other hemoglobin anomaly	Sickle cell - hemoglobin E disease
Orphanet:275752	Orphanet:251355	\N	"" []	Orphanet:251375	"" []	572233	\N	\N	EFO	2	EFO	Sickle cell disease and related diseases	Sickle cell - hemoglobin E disease
Orphanet:68364	Orphanet:275752	\N	"" []	Orphanet:251375	"" []	1154614	\N	\N	EFO	3	EFO	Hemoglobinopathy	Sickle cell - hemoglobin E disease
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:251375	"" []	2037315	\N	\N	EFO	4	EFO	Rare constitutional anemia	Sickle cell - hemoglobin E disease
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:251375	"" []	3187651	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Sickle cell - hemoglobin E disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251375	"" []	4394820	\N	\N	EFO	6	EFO	genetic disorder	Sickle cell - hemoglobin E disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:251375	"" []	4394821	\N	\N	EFO	6	EFO	hematological system disease	Sickle cell - hemoglobin E disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251375	"" []	5412898	\N	\N	EFO	7	EFO	disease	Sickle cell - hemoglobin E disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251375	"" []	5412899	\N	\N	EFO	7	EFO	disease	Sickle cell - hemoglobin E disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251375	"" []	6149582	\N	\N	EFO	8	EFO	disposition	Sickle cell - hemoglobin E disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251375	"" []	6632690	\N	\N	EFO	9	EFO	material property	Sickle cell - hemoglobin E disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251375	"" []	6925617	\N	\N	EFO	10	EFO	experimental factor	Sickle cell - hemoglobin E disease
Orphanet:251380	\N	\N	"" []	Orphanet:251380	"" []	75089	\N	\N	EFO	0	EFO	Hereditary persistence of fetal hemoglobin - sickle cell disease	Hereditary persistence of fetal hemoglobin - sickle cell disease
Orphanet:251355	Orphanet:251380	\N	"" []	Orphanet:251380	"" []	217462	\N	\N	EFO	1	EFO	Sickle cell disease associated with an other hemoglobin anomaly	Hereditary persistence of fetal hemoglobin - sickle cell disease
Orphanet:275752	Orphanet:251355	\N	"" []	Orphanet:251380	"" []	572234	\N	\N	EFO	2	EFO	Sickle cell disease and related diseases	Hereditary persistence of fetal hemoglobin - sickle cell disease
Orphanet:68364	Orphanet:275752	\N	"" []	Orphanet:251380	"" []	1154615	\N	\N	EFO	3	EFO	Hemoglobinopathy	Hereditary persistence of fetal hemoglobin - sickle cell disease
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:251380	"" []	2037316	\N	\N	EFO	4	EFO	Rare constitutional anemia	Hereditary persistence of fetal hemoglobin - sickle cell disease
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:251380	"" []	3187652	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Hereditary persistence of fetal hemoglobin - sickle cell disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251380	"" []	4394822	\N	\N	EFO	6	EFO	genetic disorder	Hereditary persistence of fetal hemoglobin - sickle cell disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:251380	"" []	4394823	\N	\N	EFO	6	EFO	hematological system disease	Hereditary persistence of fetal hemoglobin - sickle cell disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251380	"" []	5412900	\N	\N	EFO	7	EFO	disease	Hereditary persistence of fetal hemoglobin - sickle cell disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251380	"" []	5412901	\N	\N	EFO	7	EFO	disease	Hereditary persistence of fetal hemoglobin - sickle cell disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251380	"" []	6149583	\N	\N	EFO	8	EFO	disposition	Hereditary persistence of fetal hemoglobin - sickle cell disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251380	"" []	6632691	\N	\N	EFO	9	EFO	material property	Hereditary persistence of fetal hemoglobin - sickle cell disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251380	"" []	6925618	\N	\N	EFO	10	EFO	experimental factor	Hereditary persistence of fetal hemoglobin - sickle cell disease
Orphanet:251383	\N	\N	"" []	Orphanet:251383	"" []	75090	\N	\N	EFO	0	EFO	CK syndrome	CK syndrome
Orphanet:183763	Orphanet:251383	\N	"" []	Orphanet:251383	"" []	217463	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	CK syndrome
Orphanet:269564	Orphanet:251383	\N	"" []	Orphanet:251383	"" []	217464	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	CK syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:251383	"" []	572235	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	CK syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:251383	"" []	572236	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	CK syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:251383	"" []	1154616	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	CK syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:251383	"" []	1154617	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	CK syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:251383	"" []	1154618	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	CK syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251383	"" []	2037317	\N	\N	EFO	4	EFO	genetic disorder	CK syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251383	"" []	2037318	\N	\N	EFO	4	EFO	genetic disorder	CK syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251383	"" []	3187653	\N	\N	EFO	5	EFO	disease	CK syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251383	"" []	4394824	\N	\N	EFO	6	EFO	disposition	CK syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251383	"" []	5412902	\N	\N	EFO	7	EFO	material property	CK syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251383	"" []	6149584	\N	\N	EFO	8	EFO	experimental factor	CK syndrome
Orphanet:251393	\N	\N	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	75091	\N	\N	EFO	0	EFO	Localized junctional epidermolysis bullosa, non-Herlitz type	Localized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:89840	Orphanet:251393	\N	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	217465	\N	\N	EFO	1	EFO	Junctional epidermolysis bullosa, non-Herlitz type	Localized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:305	Orphanet:89840	\N	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	572237	\N	\N	EFO	2	EFO	Junctional epidermolysis bullosa	Localized junctional epidermolysis bullosa, non-Herlitz type
EFO:1000690	Orphanet:305	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	1154619	\N	\N	EFO	3	EFO	epidermolysis bullosa	Localized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:139027	Orphanet:305	\N	"" []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	1154620	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Localized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:79361	Orphanet:305	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	1154621	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Localized junctional epidermolysis bullosa, non-Herlitz type
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	2037319	\N	\N	EFO	4	EFO	vesiculobullous skin disease	Localized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	2037320	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Localized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	2037321	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Localized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	3187654	\N	\N	EFO	5	EFO	skin disease	Localized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	3187655	\N	\N	EFO	5	EFO	genetic disorder	Localized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	3187656	\N	\N	EFO	5	EFO	Rare genetic skin disease	Localized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	5412905	\N	\N	EFO	7	EFO	disease	Localized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	5412904	\N	\N	EFO	7	EFO	disease	Localized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	4394827	\N	\N	EFO	6	EFO	genetic disorder	Localized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	4394828	\N	\N	EFO	6	EFO	skin disease	Localized junctional epidermolysis bullosa, non-Herlitz type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	5997557	\N	\N	EFO	8	EFO	disposition	Localized junctional epidermolysis bullosa, non-Herlitz type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	6550921	\N	\N	EFO	9	EFO	material property	Localized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251393	"Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." []	6889171	\N	\N	EFO	10	EFO	experimental factor	Localized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:2514	\N	\N	"" []	Orphanet:2514	"" []	75092	\N	\N	EFO	0	EFO	Autosomal dominant microcephaly	Autosomal dominant microcephaly
Orphanet:199642	Orphanet:2514	\N	"" []	Orphanet:2514	"" []	217466	\N	\N	EFO	1	EFO	Isolated congenital microcephaly	Autosomal dominant microcephaly
Orphanet:330197	Orphanet:2514	\N	"" []	Orphanet:2514	"" []	217467	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Autosomal dominant microcephaly
Orphanet:269553	Orphanet:199642	\N	"" []	Orphanet:2514	"" []	572238	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Autosomal dominant microcephaly
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2514	"" []	572239	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Autosomal dominant microcephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:2514	"" []	1154622	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Autosomal dominant microcephaly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2514	"" []	1154623	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant microcephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2514	"" []	2037322	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Autosomal dominant microcephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2514	"" []	4394829	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant microcephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2514	"" []	3187657	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant microcephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2514	"" []	3187658	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant microcephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2514	"" []	5059840	\N	\N	EFO	7	EFO	disease	Autosomal dominant microcephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2514	"" []	4394830	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant microcephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2514	"" []	5877099	\N	\N	EFO	8	EFO	disposition	Autosomal dominant microcephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2514	"" []	6470323	\N	\N	EFO	9	EFO	material property	Autosomal dominant microcephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2514	"" []	6848466	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant microcephaly
Orphanet:2515	\N	\N	"" []	Orphanet:2515	"" []	75093	\N	\N	EFO	0	EFO	Microcephaly - cardiomyopathy	Microcephaly - cardiomyopathy
Orphanet:102283	Orphanet:2515	\N	"" []	Orphanet:2515	"" []	217468	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephaly - cardiomyopathy
Orphanet:183763	Orphanet:2515	\N	"" []	Orphanet:2515	"" []	217469	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephaly - cardiomyopathy
Orphanet:217619	Orphanet:2515	\N	"" []	Orphanet:2515	"" []	217470	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	Microcephaly - cardiomyopathy
Orphanet:269528	Orphanet:2515	\N	"" []	Orphanet:2515	"" []	217471	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Microcephaly - cardiomyopathy
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2515	"" []	572240	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly - cardiomyopathy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2515	"" []	572241	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microcephaly - cardiomyopathy
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:2515	"" []	572242	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Microcephaly - cardiomyopathy
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:2515	"" []	572243	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephaly - cardiomyopathy
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2515	"" []	1154624	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - cardiomyopathy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2515	"" []	1154625	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephaly - cardiomyopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:2515	"" []	1154626	\N	\N	EFO	3	EFO	cardiomyopathy	Microcephaly - cardiomyopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:2515	"" []	1154627	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Microcephaly - cardiomyopathy
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2515	"" []	1154628	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microcephaly - cardiomyopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2515	"" []	3187662	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - cardiomyopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2515	"" []	3187663	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2515	"" []	2037326	\N	\N	EFO	4	EFO	heart disease	Microcephaly - cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2515	"" []	2037327	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2515	"" []	2037328	\N	\N	EFO	4	EFO	heart disease	Microcephaly - cardiomyopathy
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2515	"" []	2037329	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - cardiomyopathy
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2515	"" []	2037330	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephaly - cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2515	"" []	4133674	\N	\N	EFO	6	EFO	disease	Microcephaly - cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:2515	"" []	3187661	\N	\N	EFO	5	EFO	cardiovascular disease	Microcephaly - cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2515	"" []	5182199	\N	\N	EFO	7	EFO	disposition	Microcephaly - cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2515	"" []	4394833	\N	\N	EFO	6	EFO	disease	Microcephaly - cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2515	"" []	5997558	\N	\N	EFO	8	EFO	material property	Microcephaly - cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2515	"" []	6550922	\N	\N	EFO	9	EFO	experimental factor	Microcephaly - cardiomyopathy
Orphanet:251510	\N	\N	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	75094	\N	\N	EFO	0	EFO	46,XY partial gonadal dysgenesis	46,XY partial gonadal dysgenesis
Orphanet:325118	Orphanet:251510	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	217472	\N	\N	EFO	1	EFO	46,XY disorder of gonadal development	46,XY partial gonadal dysgenesis
Orphanet:399877	Orphanet:251510	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	217473	\N	\N	EFO	1	EFO	Female infertility due to gonadal dysgenesis	46,XY partial gonadal dysgenesis
Orphanet:98074	Orphanet:251510	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	217474	\N	\N	EFO	1	EFO	Gonadal dysgenesis of gynecological interest	46,XY partial gonadal dysgenesis
Orphanet:98313	Orphanet:251510	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	217475	\N	\N	EFO	1	EFO	Male infertility due to gonadal dysgenesis	46,XY partial gonadal dysgenesis
Orphanet:325706	Orphanet:325118	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	572244	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	46,XY partial gonadal dysgenesis
Orphanet:400008	Orphanet:399877	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	572245	\N	\N	EFO	2	EFO	Rare genetic female infertility	46,XY partial gonadal dysgenesis
Orphanet:325665	Orphanet:98074	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	572246	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	46,XY partial gonadal dysgenesis
Orphanet:399764	Orphanet:98313	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	572247	\N	\N	EFO	2	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	46,XY partial gonadal dysgenesis
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	1154629	\N	\N	EFO	3	EFO	Genetic disorder of sex development	46,XY partial gonadal dysgenesis
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	1154630	\N	\N	EFO	3	EFO	Genetic infertility	46,XY partial gonadal dysgenesis
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	1154631	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	46,XY partial gonadal dysgenesis
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	1154632	\N	\N	EFO	3	EFO	Rare genetic male infertility	46,XY partial gonadal dysgenesis
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	2037331	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	46,XY partial gonadal dysgenesis
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	2037332	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	46,XY partial gonadal dysgenesis
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	2037333	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	46,XY partial gonadal dysgenesis
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	3187670	\N	\N	EFO	5	EFO	genetic disorder	46,XY partial gonadal dysgenesis
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	3187671	\N	\N	EFO	5	EFO	reproductive system disease	46,XY partial gonadal dysgenesis
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	2037336	\N	\N	EFO	4	EFO	genetic disorder	46,XY partial gonadal dysgenesis
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	2037337	\N	\N	EFO	4	EFO	reproductive system disease	46,XY partial gonadal dysgenesis
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	2037338	\N	\N	EFO	4	EFO	Genetic infertility	46,XY partial gonadal dysgenesis
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	3187664	\N	\N	EFO	5	EFO	genetic disorder	46,XY partial gonadal dysgenesis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	3187665	\N	\N	EFO	5	EFO	genetic disorder	46,XY partial gonadal dysgenesis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	3187666	\N	\N	EFO	5	EFO	endocrine system disease	46,XY partial gonadal dysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	3187667	\N	\N	EFO	5	EFO	genetic disorder	46,XY partial gonadal dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	4133675	\N	\N	EFO	6	EFO	disease	46,XY partial gonadal dysgenesis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	4133676	\N	\N	EFO	6	EFO	disease	46,XY partial gonadal dysgenesis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	4394834	\N	\N	EFO	6	EFO	disease	46,XY partial gonadal dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	5182200	\N	\N	EFO	7	EFO	disposition	46,XY partial gonadal dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	5997559	\N	\N	EFO	8	EFO	material property	46,XY partial gonadal dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251510	"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." []	6550923	\N	\N	EFO	9	EFO	experimental factor	46,XY partial gonadal dysgenesis
Orphanet:251515	\N	\N	"" []	Orphanet:251515	"" []	75095	\N	\N	EFO	0	EFO	Distal arthrogryposis type 10	Distal arthrogryposis type 10
Orphanet:97120	Orphanet:251515	\N	"" []	Orphanet:251515	"" []	217476	\N	\N	EFO	1	EFO	Distal arthrogryposis	Distal arthrogryposis type 10
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:251515	"" []	572248	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Distal arthrogryposis type 10
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:251515	"" []	1154633	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Distal arthrogryposis type 10
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:251515	"" []	2037339	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Distal arthrogryposis type 10
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:251515	"" []	3187672	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Distal arthrogryposis type 10
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251515	"" []	4394836	\N	\N	EFO	6	EFO	genetic disorder	Distal arthrogryposis type 10
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251515	"" []	5412909	\N	\N	EFO	7	EFO	disease	Distal arthrogryposis type 10
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251515	"" []	6149589	\N	\N	EFO	8	EFO	disposition	Distal arthrogryposis type 10
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251515	"" []	6632693	\N	\N	EFO	9	EFO	material property	Distal arthrogryposis type 10
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251515	"" []	6925619	\N	\N	EFO	10	EFO	experimental factor	Distal arthrogryposis type 10
Orphanet:251523	\N	\N	"" []	Orphanet:251523	"" []	75096	\N	\N	EFO	0	EFO	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Orphanet:183681	Orphanet:251523	\N	"" []	Orphanet:251523	"" []	217477	\N	\N	EFO	1	EFO	Functional neutrophil defect	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Orphanet:309845	Orphanet:251523	\N	"" []	Orphanet:251523	"" []	217478	\N	\N	EFO	1	EFO	Disorder of zinc metabolism	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Orphanet:101988	Orphanet:183681	\N	"" []	Orphanet:251523	"" []	572249	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Orphanet:309836	Orphanet:309845	\N	"" []	Orphanet:251523	"" []	572250	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:251523	"" []	1154634	\N	\N	EFO	3	EFO	Primary immunodeficiency	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:251523	"" []	1154635	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:251523	"" []	2037340	\N	\N	EFO	4	EFO	Rare genetic immune disease	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:251523	"" []	2037341	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251523	"" []	3187673	\N	\N	EFO	5	EFO	genetic disorder	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:251523	"" []	3187674	\N	\N	EFO	5	EFO	immune system disease	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:251523	"" []	3187675	\N	\N	EFO	5	EFO	genetic disorder	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:251523	"" []	3187676	\N	\N	EFO	5	EFO	metabolic disease	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251523	"" []	4394837	\N	\N	EFO	6	EFO	disease	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251523	"" []	4394838	\N	\N	EFO	6	EFO	disease	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:251523	"" []	4394839	\N	\N	EFO	6	EFO	disease	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:251523	"" []	5412910	\N	\N	EFO	7	EFO	disposition	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:251523	"" []	6149590	\N	\N	EFO	8	EFO	material property	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:251523	"" []	6632694	\N	\N	EFO	9	EFO	experimental factor	Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Orphanet:2516	\N	\N	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	75097	\N	\N	EFO	0	EFO	Microcephaly - cardiac defect - lung malsegmentation	Microcephaly - cardiac defect - lung malsegmentation
Orphanet:156532	Orphanet:2516	\N	"" []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	217479	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Microcephaly - cardiac defect - lung malsegmentation
Orphanet:330206	Orphanet:2516	\N	"" []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	217480	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Microcephaly - cardiac defect - lung malsegmentation
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	572251	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Microcephaly - cardiac defect - lung malsegmentation
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	572252	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly - cardiac defect - lung malsegmentation
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	1154636	\N	\N	EFO	3	EFO	genetic disorder	Microcephaly - cardiac defect - lung malsegmentation
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	1154637	\N	\N	EFO	3	EFO	heart disease	Microcephaly - cardiac defect - lung malsegmentation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	1154638	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - cardiac defect - lung malsegmentation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	3187679	\N	\N	EFO	5	EFO	disease	Microcephaly - cardiac defect - lung malsegmentation
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	2037343	\N	\N	EFO	4	EFO	cardiovascular disease	Microcephaly - cardiac defect - lung malsegmentation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	2037344	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - cardiac defect - lung malsegmentation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	4133677	\N	\N	EFO	6	EFO	disposition	Microcephaly - cardiac defect - lung malsegmentation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	3187678	\N	\N	EFO	5	EFO	disease	Microcephaly - cardiac defect - lung malsegmentation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	5182201	\N	\N	EFO	7	EFO	material property	Microcephaly - cardiac defect - lung malsegmentation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2516	"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." []	5997560	\N	\N	EFO	8	EFO	experimental factor	Microcephaly - cardiac defect - lung malsegmentation
Orphanet:2518	\N	\N	"" []	Orphanet:2518	"" []	75098	\N	\N	EFO	0	EFO	Autosomal recessive chorioretinopathy-microcephaly	Autosomal recessive chorioretinopathy-microcephaly
Orphanet:71862	Orphanet:2518	\N	"" []	Orphanet:2518	"" []	217481	\N	\N	EFO	1	EFO	Retinal dystrophy	Autosomal recessive chorioretinopathy-microcephaly
Orphanet:98692	Orphanet:2518	\N	"" []	Orphanet:2518	"" []	217482	\N	\N	EFO	1	EFO	Nervous system anomaly with eye involvement	Autosomal recessive chorioretinopathy-microcephaly
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:2518	"" []	572253	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Autosomal recessive chorioretinopathy-microcephaly
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:2518	"" []	572254	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive chorioretinopathy-microcephaly
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:2518	"" []	1154639	\N	\N	EFO	3	EFO	Rare genetic eye disease	Autosomal recessive chorioretinopathy-microcephaly
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:2518	"" []	1154640	\N	\N	EFO	3	EFO	Rare genetic eye disease	Autosomal recessive chorioretinopathy-microcephaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2518	"" []	2037345	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive chorioretinopathy-microcephaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2518	"" []	2037346	\N	\N	EFO	4	EFO	eye disease	Autosomal recessive chorioretinopathy-microcephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2518	"" []	3187680	\N	\N	EFO	5	EFO	disease	Autosomal recessive chorioretinopathy-microcephaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2518	"" []	3187681	\N	\N	EFO	5	EFO	disease	Autosomal recessive chorioretinopathy-microcephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2518	"" []	4394841	\N	\N	EFO	6	EFO	disposition	Autosomal recessive chorioretinopathy-microcephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2518	"" []	5412912	\N	\N	EFO	7	EFO	material property	Autosomal recessive chorioretinopathy-microcephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2518	"" []	6149591	\N	\N	EFO	8	EFO	experimental factor	Autosomal recessive chorioretinopathy-microcephaly
Orphanet:2519	\N	\N	"" []	Orphanet:2519	"" []	75099	\N	\N	EFO	0	EFO	Microcephaly - seizures - intellectual disability - heart disease	Microcephaly - seizures - intellectual disability - heart disease
Orphanet:102283	Orphanet:2519	\N	"" []	Orphanet:2519	"" []	217483	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephaly - seizures - intellectual disability - heart disease
Orphanet:183763	Orphanet:2519	\N	"" []	Orphanet:2519	"" []	217484	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephaly - seizures - intellectual disability - heart disease
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2519	"" []	572255	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly - seizures - intellectual disability - heart disease
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2519	"" []	572256	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microcephaly - seizures - intellectual disability - heart disease
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2519	"" []	1154641	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - seizures - intellectual disability - heart disease
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2519	"" []	1154642	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephaly - seizures - intellectual disability - heart disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2519	"" []	2037347	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - seizures - intellectual disability - heart disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2519	"" []	2037348	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - seizures - intellectual disability - heart disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2519	"" []	3187682	\N	\N	EFO	5	EFO	disease	Microcephaly - seizures - intellectual disability - heart disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2519	"" []	4394842	\N	\N	EFO	6	EFO	disposition	Microcephaly - seizures - intellectual disability - heart disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2519	"" []	5412913	\N	\N	EFO	7	EFO	material property	Microcephaly - seizures - intellectual disability - heart disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2519	"" []	6149592	\N	\N	EFO	8	EFO	experimental factor	Microcephaly - seizures - intellectual disability - heart disease
Orphanet:2521	\N	\N	"" []	Orphanet:2521	"" []	75100	\N	\N	EFO	0	EFO	Microcephaly - cleft palate	Microcephaly - cleft palate
Orphanet:102283	Orphanet:2521	\N	"" []	Orphanet:2521	"" []	217485	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephaly - cleft palate
Orphanet:139039	Orphanet:2521	\N	"" []	Orphanet:2521	"" []	217486	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Microcephaly - cleft palate
Orphanet:183763	Orphanet:2521	\N	"" []	Orphanet:2521	"" []	217487	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephaly - cleft palate
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2521	"" []	572257	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly - cleft palate
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2521	"" []	572258	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Microcephaly - cleft palate
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2521	"" []	572259	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microcephaly - cleft palate
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2521	"" []	1154643	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - cleft palate
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2521	"" []	1154644	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Microcephaly - cleft palate
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2521	"" []	1154645	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephaly - cleft palate
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2521	"" []	4394844	\N	\N	EFO	6	EFO	genetic disorder	Microcephaly - cleft palate
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2521	"" []	2037350	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Microcephaly - cleft palate
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2521	"" []	2037351	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - cleft palate
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2521	"" []	5059841	\N	\N	EFO	7	EFO	disease	Microcephaly - cleft palate
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2521	"" []	3187684	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - cleft palate
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2521	"" []	5877100	\N	\N	EFO	8	EFO	disposition	Microcephaly - cleft palate
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2521	"" []	6470324	\N	\N	EFO	9	EFO	material property	Microcephaly - cleft palate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2521	"" []	6848467	\N	\N	EFO	10	EFO	experimental factor	Microcephaly - cleft palate
Orphanet:2522	\N	\N	"" []	Orphanet:2522	"" []	75101	\N	\N	EFO	0	EFO	Microcephaly - cervical spine fusion anomalies	Microcephaly - cervical spine fusion anomalies
Orphanet:102283	Orphanet:2522	\N	"" []	Orphanet:2522	"" []	217488	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephaly - cervical spine fusion anomalies
Orphanet:183763	Orphanet:2522	\N	"" []	Orphanet:2522	"" []	217489	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephaly - cervical spine fusion anomalies
Orphanet:269528	Orphanet:2522	\N	"" []	Orphanet:2522	"" []	217490	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Microcephaly - cervical spine fusion anomalies
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2522	"" []	572260	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly - cervical spine fusion anomalies
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2522	"" []	572261	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microcephaly - cervical spine fusion anomalies
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:2522	"" []	572262	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephaly - cervical spine fusion anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2522	"" []	1154646	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - cervical spine fusion anomalies
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2522	"" []	1154647	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephaly - cervical spine fusion anomalies
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2522	"" []	1154648	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microcephaly - cervical spine fusion anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2522	"" []	3187686	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - cervical spine fusion anomalies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2522	"" []	3187687	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - cervical spine fusion anomalies
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2522	"" []	2037354	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - cervical spine fusion anomalies
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2522	"" []	2037355	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephaly - cervical spine fusion anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2522	"" []	4133678	\N	\N	EFO	6	EFO	disease	Microcephaly - cervical spine fusion anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2522	"" []	5182202	\N	\N	EFO	7	EFO	disposition	Microcephaly - cervical spine fusion anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2522	"" []	5997561	\N	\N	EFO	8	EFO	material property	Microcephaly - cervical spine fusion anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2522	"" []	6550924	\N	\N	EFO	9	EFO	experimental factor	Microcephaly - cervical spine fusion anomalies
Orphanet:252202	\N	\N	"" []	Orphanet:252202	"" []	75102	\N	\N	EFO	0	EFO	Constitutional mismatch repair deficiency syndrome	Constitutional mismatch repair deficiency syndrome
Orphanet:140162	Orphanet:252202	\N	"" []	Orphanet:252202	"" []	217491	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Constitutional mismatch repair deficiency syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:252202	"" []	572263	\N	\N	EFO	2	EFO	genetic disorder	Constitutional mismatch repair deficiency syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:252202	"" []	1154649	\N	\N	EFO	3	EFO	disease	Constitutional mismatch repair deficiency syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:252202	"" []	2037356	\N	\N	EFO	4	EFO	disposition	Constitutional mismatch repair deficiency syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:252202	"" []	3187688	\N	\N	EFO	5	EFO	material property	Constitutional mismatch repair deficiency syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:252202	"" []	4394846	\N	\N	EFO	6	EFO	experimental factor	Constitutional mismatch repair deficiency syndrome
Orphanet:2523	\N	\N	"" []	Orphanet:2523	"" []	75103	\N	\N	EFO	0	EFO	Microcephaly - brain defect - spasticity - hypernatremia	Microcephaly - brain defect - spasticity - hypernatremia
Orphanet:269528	Orphanet:2523	\N	"" []	Orphanet:2523	"" []	217492	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Microcephaly - brain defect - spasticity - hypernatremia
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:2523	"" []	572264	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephaly - brain defect - spasticity - hypernatremia
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2523	"" []	1154650	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microcephaly - brain defect - spasticity - hypernatremia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2523	"" []	2037357	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - brain defect - spasticity - hypernatremia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2523	"" []	2037358	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephaly - brain defect - spasticity - hypernatremia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2523	"" []	3187689	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - brain defect - spasticity - hypernatremia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2523	"" []	3187690	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - brain defect - spasticity - hypernatremia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2523	"" []	4394847	\N	\N	EFO	6	EFO	disease	Microcephaly - brain defect - spasticity - hypernatremia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2523	"" []	5412916	\N	\N	EFO	7	EFO	disposition	Microcephaly - brain defect - spasticity - hypernatremia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2523	"" []	6149595	\N	\N	EFO	8	EFO	material property	Microcephaly - brain defect - spasticity - hypernatremia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2523	"" []	6632695	\N	\N	EFO	9	EFO	experimental factor	Microcephaly - brain defect - spasticity - hypernatremia
Orphanet:2524	\N	\N	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	75104	\N	\N	EFO	0	EFO	Pontocerebellar hypoplasia type 2	Pontocerebellar hypoplasia type 2
Orphanet:207012	Orphanet:2524	\N	"" []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	217493	\N	\N	EFO	1	EFO	Spinal muscular atrophy associated with central nervous system anomaly	Pontocerebellar hypoplasia type 2
Orphanet:98523	Orphanet:2524	\N	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	217494	\N	\N	EFO	1	EFO	Non-syndromic pontocerebellar hypoplasia	Pontocerebellar hypoplasia type 2
Orphanet:206701	Orphanet:207012	\N	"" []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	572265	\N	\N	EFO	2	EFO	Bulbospinal muscular atrophy	Pontocerebellar hypoplasia type 2
Orphanet:269557	Orphanet:98523	\N	"" []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	572266	\N	\N	EFO	2	EFO	Genetic posterior fossa malformation	Pontocerebellar hypoplasia type 2
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	1154651	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Pontocerebellar hypoplasia type 2
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	1154652	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Pontocerebellar hypoplasia type 2
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	2037359	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Pontocerebellar hypoplasia type 2
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	2037360	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Pontocerebellar hypoplasia type 2
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	3187691	\N	\N	EFO	5	EFO	muscular disease	Pontocerebellar hypoplasia type 2
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	3187692	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pontocerebellar hypoplasia type 2
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	3187693	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pontocerebellar hypoplasia type 2
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	3187694	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pontocerebellar hypoplasia type 2
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	4394848	\N	\N	EFO	6	EFO	skeletal system disease	Pontocerebellar hypoplasia type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	4394849	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	4394850	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	5412917	\N	\N	EFO	7	EFO	disease	Pontocerebellar hypoplasia type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	5412918	\N	\N	EFO	7	EFO	disease	Pontocerebellar hypoplasia type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	6149596	\N	\N	EFO	8	EFO	disposition	Pontocerebellar hypoplasia type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	6632696	\N	\N	EFO	9	EFO	material property	Pontocerebellar hypoplasia type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2524	"Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." []	6925620	\N	\N	EFO	10	EFO	experimental factor	Pontocerebellar hypoplasia type 2
Orphanet:2526	\N	\N	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	75105	\N	\N	EFO	0	EFO	Microcephaly - lymphedema - chorioretinopathy	Microcephaly - lymphedema - chorioretinopathy
Orphanet:269528	Orphanet:2526	\N	"" []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	217495	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Microcephaly - lymphedema - chorioretinopathy
Orphanet:71862	Orphanet:2526	\N	"" []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	217496	\N	\N	EFO	1	EFO	Retinal dystrophy	Microcephaly - lymphedema - chorioretinopathy
Orphanet:89832	Orphanet:2526	\N	"" []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	217497	\N	\N	EFO	1	EFO	Syndromic lymphedema	Microcephaly - lymphedema - chorioretinopathy
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	572267	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephaly - lymphedema - chorioretinopathy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	572268	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Microcephaly - lymphedema - chorioretinopathy
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	572269	\N	\N	EFO	2	EFO	Lymphedema	Microcephaly - lymphedema - chorioretinopathy
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	1154653	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microcephaly - lymphedema - chorioretinopathy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	1154654	\N	\N	EFO	3	EFO	Rare genetic eye disease	Microcephaly - lymphedema - chorioretinopathy
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	1154655	\N	\N	EFO	3	EFO	Rare genetic skin disease	Microcephaly - lymphedema - chorioretinopathy
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	2037361	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - lymphedema - chorioretinopathy
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	2037362	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephaly - lymphedema - chorioretinopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	2037363	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - lymphedema - chorioretinopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	2037364	\N	\N	EFO	4	EFO	eye disease	Microcephaly - lymphedema - chorioretinopathy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	2037365	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - lymphedema - chorioretinopathy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	2037366	\N	\N	EFO	4	EFO	skin disease	Microcephaly - lymphedema - chorioretinopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	3187695	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - lymphedema - chorioretinopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	3187696	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - lymphedema - chorioretinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	4394851	\N	\N	EFO	6	EFO	disease	Microcephaly - lymphedema - chorioretinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	3187698	\N	\N	EFO	5	EFO	disease	Microcephaly - lymphedema - chorioretinopathy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	3187699	\N	\N	EFO	5	EFO	disease	Microcephaly - lymphedema - chorioretinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	5182203	\N	\N	EFO	7	EFO	disposition	Microcephaly - lymphedema - chorioretinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	5997562	\N	\N	EFO	8	EFO	material property	Microcephaly - lymphedema - chorioretinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2526	"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." []	6550925	\N	\N	EFO	9	EFO	experimental factor	Microcephaly - lymphedema - chorioretinopathy
Orphanet:2528	\N	\N	"" []	Orphanet:2528	"" []	75106	\N	\N	EFO	0	EFO	Microcephaly-microcornea syndrome, Seemanova type	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:102283	Orphanet:2528	\N	"" []	Orphanet:2528	"" []	217498	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:183557	Orphanet:2528	\N	"" []	Orphanet:2528	"" []	217499	\N	\N	EFO	1	EFO	Genetic developmental defect of the eye	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:183763	Orphanet:2528	\N	"" []	Orphanet:2528	"" []	217500	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:269528	Orphanet:2528	\N	"" []	Orphanet:2528	"" []	217501	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2528	"" []	572270	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2528	"" []	572271	\N	\N	EFO	2	EFO	Rare genetic eye disease	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2528	"" []	572272	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2528	"" []	572273	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:2528	"" []	572274	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2528	"" []	1154656	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly-microcornea syndrome, Seemanova type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2528	"" []	1154657	\N	\N	EFO	3	EFO	genetic disorder	Microcephaly-microcornea syndrome, Seemanova type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2528	"" []	1154658	\N	\N	EFO	3	EFO	eye disease	Microcephaly-microcornea syndrome, Seemanova type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2528	"" []	3187701	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2528	"" []	1154660	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2528	"" []	1154661	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microcephaly-microcornea syndrome, Seemanova type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2528	"" []	4066895	\N	\N	EFO	6	EFO	disease	Microcephaly-microcornea syndrome, Seemanova type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2528	"" []	2037369	\N	\N	EFO	4	EFO	disease	Microcephaly-microcornea syndrome, Seemanova type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2528	"" []	3187702	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2528	"" []	2037371	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2528	"" []	2037372	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephaly-microcornea syndrome, Seemanova type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2528	"" []	5059842	\N	\N	EFO	7	EFO	disposition	Microcephaly-microcornea syndrome, Seemanova type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2528	"" []	5877101	\N	\N	EFO	8	EFO	material property	Microcephaly-microcornea syndrome, Seemanova type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2528	"" []	6470325	\N	\N	EFO	9	EFO	experimental factor	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:253	\N	\N	"" []	Orphanet:253	"" []	75107	\N	\N	EFO	0	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:253	"" []	217502	\N	\N	EFO	1	EFO	Primary bone dysplasia	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:253	"" []	572275	\N	\N	EFO	2	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:253	"" []	572276	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:253	"" []	1154662	\N	\N	EFO	3	EFO	genetic disorder	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:253	"" []	1154663	\N	\N	EFO	3	EFO	bone disease	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:253	"" []	1154664	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:253	"" []	3187705	\N	\N	EFO	5	EFO	disease	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:253	"" []	2037374	\N	\N	EFO	4	EFO	skeletal system disease	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:253	"" []	2037375	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:253	"" []	4133680	\N	\N	EFO	6	EFO	disposition	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:253	"" []	3187704	\N	\N	EFO	5	EFO	disease	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:253	"" []	5182205	\N	\N	EFO	7	EFO	material property	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:253	"" []	5997564	\N	\N	EFO	8	EFO	experimental factor	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Orphanet:2533	\N	\N	"" []	Orphanet:2533	"" []	75108	\N	\N	EFO	0	EFO	Microcephaly - deafness - intellectual disability	Microcephaly - deafness - intellectual disability
Orphanet:102283	Orphanet:2533	\N	"" []	Orphanet:2533	"" []	217503	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephaly - deafness - intellectual disability
Orphanet:183763	Orphanet:2533	\N	"" []	Orphanet:2533	"" []	217504	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephaly - deafness - intellectual disability
Orphanet:90642	Orphanet:2533	\N	"" []	Orphanet:2533	"" []	217505	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Microcephaly - deafness - intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2533	"" []	572277	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly - deafness - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2533	"" []	572278	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microcephaly - deafness - intellectual disability
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2533	"" []	572279	\N	\N	EFO	2	EFO	Rare genetic deafness	Microcephaly - deafness - intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2533	"" []	1154665	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - deafness - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2533	"" []	1154666	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephaly - deafness - intellectual disability
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2533	"" []	1154667	\N	\N	EFO	3	EFO	genetic disorder	Microcephaly - deafness - intellectual disability
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2533	"" []	1154668	\N	\N	EFO	3	EFO	auditory system disease	Microcephaly - deafness - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2533	"" []	2037376	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - deafness - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2533	"" []	2037377	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - deafness - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2533	"" []	3187706	\N	\N	EFO	5	EFO	disease	Microcephaly - deafness - intellectual disability
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2533	"" []	2037379	\N	\N	EFO	4	EFO	sensory system disease	Microcephaly - deafness - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2533	"" []	5412923	\N	\N	EFO	7	EFO	disposition	Microcephaly - deafness - intellectual disability
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2533	"" []	3187708	\N	\N	EFO	5	EFO	nervous system disease	Microcephaly - deafness - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2533	"" []	5877102	\N	\N	EFO	8	EFO	material property	Microcephaly - deafness - intellectual disability
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2533	"" []	4394856	\N	\N	EFO	6	EFO	disease	Microcephaly - deafness - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2533	"" []	6470326	\N	\N	EFO	9	EFO	experimental factor	Microcephaly - deafness - intellectual disability
Orphanet:2535	\N	\N	"" []	Orphanet:2535	"" []	75109	\N	\N	EFO	0	EFO	Microcornea - corectopia - macular hypoplasia	Microcornea - corectopia - macular hypoplasia
Orphanet:108987	Orphanet:2535	\N	"" []	Orphanet:2535	"" []	217506	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Microcornea - corectopia - macular hypoplasia
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2535	"" []	572280	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Microcornea - corectopia - macular hypoplasia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2535	"" []	1154669	\N	\N	EFO	3	EFO	Rare genetic eye disease	Microcornea - corectopia - macular hypoplasia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2535	"" []	1154670	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcornea - corectopia - macular hypoplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2535	"" []	2037380	\N	\N	EFO	4	EFO	genetic disorder	Microcornea - corectopia - macular hypoplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2535	"" []	2037381	\N	\N	EFO	4	EFO	eye disease	Microcornea - corectopia - macular hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2535	"" []	2037382	\N	\N	EFO	4	EFO	genetic disorder	Microcornea - corectopia - macular hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2535	"" []	3187709	\N	\N	EFO	5	EFO	disease	Microcornea - corectopia - macular hypoplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2535	"" []	3187710	\N	\N	EFO	5	EFO	disease	Microcornea - corectopia - macular hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2535	"" []	4394857	\N	\N	EFO	6	EFO	disposition	Microcornea - corectopia - macular hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2535	"" []	5412924	\N	\N	EFO	7	EFO	material property	Microcornea - corectopia - macular hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2535	"" []	6149598	\N	\N	EFO	8	EFO	experimental factor	Microcornea - corectopia - macular hypoplasia
Orphanet:2536	\N	\N	"" []	Orphanet:2536	"" []	75110	\N	\N	EFO	0	EFO	Microcornea - glaucoma - absent frontal sinuses	Microcornea - glaucoma - absent frontal sinuses
Orphanet:108987	Orphanet:2536	\N	"" []	Orphanet:2536	"" []	217507	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Microcornea - glaucoma - absent frontal sinuses
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2536	"" []	572281	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Microcornea - glaucoma - absent frontal sinuses
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2536	"" []	1154671	\N	\N	EFO	3	EFO	Rare genetic eye disease	Microcornea - glaucoma - absent frontal sinuses
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2536	"" []	1154672	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcornea - glaucoma - absent frontal sinuses
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2536	"" []	2037383	\N	\N	EFO	4	EFO	genetic disorder	Microcornea - glaucoma - absent frontal sinuses
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2536	"" []	2037384	\N	\N	EFO	4	EFO	eye disease	Microcornea - glaucoma - absent frontal sinuses
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2536	"" []	2037385	\N	\N	EFO	4	EFO	genetic disorder	Microcornea - glaucoma - absent frontal sinuses
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2536	"" []	3187711	\N	\N	EFO	5	EFO	disease	Microcornea - glaucoma - absent frontal sinuses
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2536	"" []	3187712	\N	\N	EFO	5	EFO	disease	Microcornea - glaucoma - absent frontal sinuses
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2536	"" []	4394858	\N	\N	EFO	6	EFO	disposition	Microcornea - glaucoma - absent frontal sinuses
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2536	"" []	5412925	\N	\N	EFO	7	EFO	material property	Microcornea - glaucoma - absent frontal sinuses
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2536	"" []	6149599	\N	\N	EFO	8	EFO	experimental factor	Microcornea - glaucoma - absent frontal sinuses
Orphanet:254	\N	\N	"" []	Orphanet:254	"" []	75111	\N	\N	EFO	0	EFO	Spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:254	"" []	217508	\N	\N	EFO	1	EFO	Primary bone dysplasia	Spondylometaphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:254	"" []	572282	\N	\N	EFO	2	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:254	"" []	572283	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Spondylometaphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254	"" []	1154673	\N	\N	EFO	3	EFO	genetic disorder	Spondylometaphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:254	"" []	1154674	\N	\N	EFO	3	EFO	bone disease	Spondylometaphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:254	"" []	1154675	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Spondylometaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254	"" []	3187715	\N	\N	EFO	5	EFO	disease	Spondylometaphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:254	"" []	2037387	\N	\N	EFO	4	EFO	skeletal system disease	Spondylometaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254	"" []	2037388	\N	\N	EFO	4	EFO	genetic disorder	Spondylometaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254	"" []	4133682	\N	\N	EFO	6	EFO	disposition	Spondylometaphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254	"" []	3187714	\N	\N	EFO	5	EFO	disease	Spondylometaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254	"" []	5182207	\N	\N	EFO	7	EFO	material property	Spondylometaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254	"" []	5997566	\N	\N	EFO	8	EFO	experimental factor	Spondylometaphyseal dysplasia
Orphanet:2542	\N	\N	"" []	Orphanet:2542	"" []	75112	\N	\N	EFO	0	EFO	Isolated anophthalmia - microphthalmia	Isolated anophthalmia - microphthalmia
Orphanet:108985	Orphanet:2542	\N	"" []	Orphanet:2542	"" []	217509	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Isolated anophthalmia - microphthalmia
Orphanet:98555	Orphanet:2542	\N	"" []	Orphanet:2542	"" []	217510	\N	\N	EFO	1	EFO	Anophthalmia - microphthalmia	Isolated anophthalmia - microphthalmia
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:2542	"" []	572284	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Isolated anophthalmia - microphthalmia
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:2542	"" []	572285	\N	\N	EFO	2	EFO	Major induction processes eye anomaly	Isolated anophthalmia - microphthalmia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2542	"" []	2037392	\N	\N	EFO	4	EFO	Rare genetic eye disease	Isolated anophthalmia - microphthalmia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2542	"" []	2037393	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated anophthalmia - microphthalmia
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:2542	"" []	1154678	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Isolated anophthalmia - microphthalmia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2542	"" []	3000252	\N	\N	EFO	5	EFO	genetic disorder	Isolated anophthalmia - microphthalmia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2542	"" []	3000253	\N	\N	EFO	5	EFO	eye disease	Isolated anophthalmia - microphthalmia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2542	"" []	3000254	\N	\N	EFO	5	EFO	genetic disorder	Isolated anophthalmia - microphthalmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2542	"" []	4133683	\N	\N	EFO	6	EFO	disease	Isolated anophthalmia - microphthalmia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2542	"" []	4133684	\N	\N	EFO	6	EFO	disease	Isolated anophthalmia - microphthalmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2542	"" []	5182208	\N	\N	EFO	7	EFO	disposition	Isolated anophthalmia - microphthalmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2542	"" []	5997567	\N	\N	EFO	8	EFO	material property	Isolated anophthalmia - microphthalmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2542	"" []	6550926	\N	\N	EFO	9	EFO	experimental factor	Isolated anophthalmia - microphthalmia
Orphanet:2543	\N	\N	"" []	Orphanet:2543	"" []	75113	\N	\N	EFO	0	EFO	Microphthalmia - cataract	Microphthalmia - cataract
Orphanet:108985	Orphanet:2543	\N	"" []	Orphanet:2543	"" []	217511	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Microphthalmia - cataract
Orphanet:98641	Orphanet:2543	\N	"" []	Orphanet:2543	"" []	217512	\N	\N	EFO	1	EFO	Syndromic cataract	Microphthalmia - cataract
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:2543	"" []	572286	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Microphthalmia - cataract
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:2543	"" []	572287	\N	\N	EFO	2	EFO	Rare cataract	Microphthalmia - cataract
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2543	"" []	1154679	\N	\N	EFO	3	EFO	Rare genetic eye disease	Microphthalmia - cataract
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2543	"" []	1154680	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia - cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:2543	"" []	1154681	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Microphthalmia - cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2543	"" []	3187720	\N	\N	EFO	5	EFO	genetic disorder	Microphthalmia - cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2543	"" []	3187721	\N	\N	EFO	5	EFO	eye disease	Microphthalmia - cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2543	"" []	2037396	\N	\N	EFO	4	EFO	genetic disorder	Microphthalmia - cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:2543	"" []	2037397	\N	\N	EFO	4	EFO	Rare genetic eye disease	Microphthalmia - cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2543	"" []	4133685	\N	\N	EFO	6	EFO	disease	Microphthalmia - cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2543	"" []	4133686	\N	\N	EFO	6	EFO	disease	Microphthalmia - cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2543	"" []	5182209	\N	\N	EFO	7	EFO	disposition	Microphthalmia - cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2543	"" []	5997568	\N	\N	EFO	8	EFO	material property	Microphthalmia - cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2543	"" []	6550927	\N	\N	EFO	9	EFO	experimental factor	Microphthalmia - cataract
Orphanet:254334	\N	\N	"" []	Orphanet:254334	"" []	75114	\N	\N	EFO	0	EFO	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Orphanet:268337	Orphanet:254334	\N	"" []	Orphanet:254334	"" []	217513	\N	\N	EFO	1	EFO	Autosomal recessive intermediate Charcot-Marie-Tooth disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Orphanet:140450	Orphanet:268337	\N	"" []	Orphanet:254334	"" []	572288	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Orphanet:166	Orphanet:268337	\N	"" []	Orphanet:254334	"" []	572289	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:254334	"" []	1154682	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:254334	"" []	1154683	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:254334	"" []	1154684	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:254334	"" []	2037398	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:254334	"" []	2037399	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:254334	"" []	3187722	\N	\N	EFO	5	EFO	nervous system disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254334	"" []	3187723	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254334	"" []	4394862	\N	\N	EFO	6	EFO	disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254334	"" []	4394863	\N	\N	EFO	6	EFO	disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254334	"" []	5412929	\N	\N	EFO	7	EFO	disposition	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254334	"" []	6149602	\N	\N	EFO	8	EFO	material property	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254334	"" []	6632697	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Orphanet:254343	\N	\N	"" []	Orphanet:254343	"" []	75115	\N	\N	EFO	0	EFO	Autosomal recessive spastic ataxia - optic atrophy - dysarthria	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:316240	Orphanet:254343	\N	"" []	Orphanet:254343	"" []	217514	\N	\N	EFO	1	EFO	Autosomal recessive spastic ataxia	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:35696	Orphanet:254343	\N	"" []	Orphanet:254343	"" []	217515	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:316226	Orphanet:316240	\N	"" []	Orphanet:254343	"" []	572290	\N	\N	EFO	2	EFO	Spastic ataxia	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254343	"" []	572291	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:183518	Orphanet:316226	\N	"" []	Orphanet:254343	"" []	1154685	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254343	"" []	1154686	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:254343	"" []	2037400	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254343	"" []	2037401	\N	\N	EFO	4	EFO	Mitochondrial disease	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254343	"" []	3187724	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254343	"" []	3187725	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254343	"" []	3187726	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254343	"" []	6149604	\N	\N	EFO	8	EFO	disease	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254343	"" []	4394865	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254343	"" []	4394866	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254343	"" []	6470327	\N	\N	EFO	9	EFO	disposition	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254343	"" []	5412931	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254343	"" []	5412932	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254343	"" []	5412933	\N	\N	EFO	7	EFO	metabolic disease	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254343	"" []	6848468	\N	\N	EFO	10	EFO	material property	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254343	"" []	6149605	\N	\N	EFO	8	EFO	disease	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254343	"" []	7068443	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Orphanet:254346	\N	\N	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	Orphanet:254346	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	75116	\N	\N	EFO	0	EFO	19p13.12 microdeletion syndrome	19p13.12 microdeletion syndrome
Orphanet:261983	Orphanet:254346	\N	"" []	Orphanet:254346	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	217516	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 19	19p13.12 microdeletion syndrome
Orphanet:261841	Orphanet:261983	\N	"" []	Orphanet:254346	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	572292	\N	\N	EFO	2	EFO	Partial deletion of chromosome 19	19p13.12 microdeletion syndrome
Orphanet:98142	Orphanet:261841	\N	"" []	Orphanet:254346	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	1154687	\N	\N	EFO	3	EFO	Partial autosomal monosomy	19p13.12 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:254346	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	2037402	\N	\N	EFO	4	EFO	Autosomal monosomy	19p13.12 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:254346	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	3187727	\N	\N	EFO	5	EFO	Autosomal anomaly	19p13.12 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:254346	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	4394867	\N	\N	EFO	6	EFO	Chromosomal anomaly	19p13.12 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254346	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	5412934	\N	\N	EFO	7	EFO	genetic disorder	19p13.12 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254346	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	6149606	\N	\N	EFO	8	EFO	disease	19p13.12 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254346	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	6632699	\N	\N	EFO	9	EFO	disposition	19p13.12 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254346	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	6925621	\N	\N	EFO	10	EFO	material property	19p13.12 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254346	"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." []	7099081	\N	\N	EFO	11	EFO	experimental factor	19p13.12 microdeletion syndrome
Orphanet:254351	\N	\N	"" []	Orphanet:254351	"" []	75117	\N	\N	EFO	0	EFO	Distal 7q11.23 microdeletion syndrome	Distal 7q11.23 microdeletion syndrome
Orphanet:262056	Orphanet:254351	\N	"" []	Orphanet:254351	"" []	217517	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 7	Distal 7q11.23 microdeletion syndrome
Orphanet:261796	Orphanet:262056	\N	"" []	Orphanet:254351	"" []	572293	\N	\N	EFO	2	EFO	Partial deletion of chromosome 7	Distal 7q11.23 microdeletion syndrome
Orphanet:98142	Orphanet:261796	\N	"" []	Orphanet:254351	"" []	1154688	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal 7q11.23 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:254351	"" []	2037403	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal 7q11.23 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:254351	"" []	3187728	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal 7q11.23 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:254351	"" []	4394868	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal 7q11.23 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254351	"" []	5412935	\N	\N	EFO	7	EFO	genetic disorder	Distal 7q11.23 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254351	"" []	6149607	\N	\N	EFO	8	EFO	disease	Distal 7q11.23 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254351	"" []	6632700	\N	\N	EFO	9	EFO	disposition	Distal 7q11.23 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254351	"" []	6925622	\N	\N	EFO	10	EFO	material property	Distal 7q11.23 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254351	"" []	7099082	\N	\N	EFO	11	EFO	experimental factor	Distal 7q11.23 microdeletion syndrome
Orphanet:254361	\N	\N	"" []	Orphanet:254361	"" []	75118	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2Q	Autosomal recessive limb-girdle muscular dystrophy type 2Q
Orphanet:102015	Orphanet:254361	\N	"" []	Orphanet:254361	"" []	217518	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2Q
Orphanet:209196	Orphanet:254361	\N	"" []	Orphanet:254361	"" []	217519	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of plectin	Autosomal recessive limb-girdle muscular dystrophy type 2Q
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:254361	"" []	572294	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2Q
Orphanet:207049	Orphanet:209196	\N	"" []	Orphanet:254361	"" []	572295	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2Q
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:254361	"" []	1154689	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2Q
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:254361	"" []	1154690	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2Q
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:254361	"" []	2037404	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2Q
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:254361	"" []	5412936	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2Q
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:254361	"" []	5412937	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2Q
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:254361	"" []	3187729	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2Q
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:254361	"" []	5817612	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2Q
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254361	"" []	5817613	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2Q
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:254361	"" []	4394869	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2Q
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254361	"" []	6410009	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2Q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254361	"" []	6410010	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2Q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254361	"" []	6807857	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2Q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254361	"" []	7048629	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2Q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254361	"" []	7190214	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2Q
Orphanet:254516	\N	\N	"" []	Orphanet:254516	"" []	75119	\N	\N	EFO	0	EFO	Motor developmental delay due to 14q32.2 paternally expressed gene defect	Motor developmental delay due to 14q32.2 paternally expressed gene defect
Orphanet:183763	Orphanet:254516	\N	"" []	Orphanet:254516	"" []	217520	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Motor developmental delay due to 14q32.2 paternally expressed gene defect
Orphanet:240371	Orphanet:254516	\N	"" []	Orphanet:254516	"" []	217521	\N	\N	EFO	1	EFO	Syndromic obesity	Motor developmental delay due to 14q32.2 paternally expressed gene defect
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:254516	"" []	572296	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Motor developmental delay due to 14q32.2 paternally expressed gene defect
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:254516	"" []	572297	\N	\N	EFO	2	EFO	Genetic obesity	Motor developmental delay due to 14q32.2 paternally expressed gene defect
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:254516	"" []	1154691	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Motor developmental delay due to 14q32.2 paternally expressed gene defect
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:254516	"" []	1154692	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Motor developmental delay due to 14q32.2 paternally expressed gene defect
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:254516	"" []	1154693	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Motor developmental delay due to 14q32.2 paternally expressed gene defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254516	"" []	2037407	\N	\N	EFO	4	EFO	genetic disorder	Motor developmental delay due to 14q32.2 paternally expressed gene defect
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254516	"" []	2037408	\N	\N	EFO	4	EFO	genetic disorder	Motor developmental delay due to 14q32.2 paternally expressed gene defect
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:254516	"" []	2037409	\N	\N	EFO	4	EFO	endocrine system disease	Motor developmental delay due to 14q32.2 paternally expressed gene defect
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:254516	"" []	2037410	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Motor developmental delay due to 14q32.2 paternally expressed gene defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254516	"" []	4394873	\N	\N	EFO	6	EFO	disease	Motor developmental delay due to 14q32.2 paternally expressed gene defect
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254516	"" []	3187733	\N	\N	EFO	5	EFO	disease	Motor developmental delay due to 14q32.2 paternally expressed gene defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254516	"" []	3187734	\N	\N	EFO	5	EFO	genetic disorder	Motor developmental delay due to 14q32.2 paternally expressed gene defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254516	"" []	5182210	\N	\N	EFO	7	EFO	disposition	Motor developmental delay due to 14q32.2 paternally expressed gene defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254516	"" []	5997569	\N	\N	EFO	8	EFO	material property	Motor developmental delay due to 14q32.2 paternally expressed gene defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254516	"" []	6550928	\N	\N	EFO	9	EFO	experimental factor	Motor developmental delay due to 14q32.2 paternally expressed gene defect
Orphanet:254519	\N	\N	"" []	Orphanet:254519	"" []	75120	\N	\N	EFO	0	EFO	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
Orphanet:102283	Orphanet:254519	\N	"" []	Orphanet:254519	"" []	217522	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
Orphanet:183763	Orphanet:254519	\N	"" []	Orphanet:254519	"" []	217523	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:254519	"" []	572298	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:254519	"" []	572299	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:254519	"" []	1154694	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:254519	"" []	1154695	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254519	"" []	2037411	\N	\N	EFO	4	EFO	genetic disorder	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254519	"" []	2037412	\N	\N	EFO	4	EFO	genetic disorder	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254519	"" []	3187735	\N	\N	EFO	5	EFO	disease	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254519	"" []	4394874	\N	\N	EFO	6	EFO	disposition	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254519	"" []	5412940	\N	\N	EFO	7	EFO	material property	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254519	"" []	6149610	\N	\N	EFO	8	EFO	experimental factor	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
Orphanet:254525	\N	\N	"" []	Orphanet:254525	"" []	75121	\N	\N	EFO	0	EFO	Paternal 14q32.2 microdeletion syndrome	Paternal 14q32.2 microdeletion syndrome
Orphanet:254516	Orphanet:254525	\N	"" []	Orphanet:254525	"" []	217524	\N	\N	EFO	1	EFO	Motor developmental delay due to 14q32.2 paternally expressed gene defect	Paternal 14q32.2 microdeletion syndrome
Orphanet:262110	Orphanet:254525	\N	"" []	Orphanet:254525	"" []	217525	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 14	Paternal 14q32.2 microdeletion syndrome
Orphanet:183763	Orphanet:254516	\N	"" []	Orphanet:254525	"" []	572300	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Paternal 14q32.2 microdeletion syndrome
Orphanet:240371	Orphanet:254516	\N	"" []	Orphanet:254525	"" []	572301	\N	\N	EFO	2	EFO	Syndromic obesity	Paternal 14q32.2 microdeletion syndrome
Orphanet:98142	Orphanet:262110	\N	"" []	Orphanet:254525	"" []	572302	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Paternal 14q32.2 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:254525	"" []	1154696	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Paternal 14q32.2 microdeletion syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:254525	"" []	1154697	\N	\N	EFO	3	EFO	Genetic obesity	Paternal 14q32.2 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:254525	"" []	1154698	\N	\N	EFO	3	EFO	Autosomal monosomy	Paternal 14q32.2 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:254525	"" []	2037413	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Paternal 14q32.2 microdeletion syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:254525	"" []	2037414	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Paternal 14q32.2 microdeletion syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:254525	"" []	2037415	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Paternal 14q32.2 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:254525	"" []	2037416	\N	\N	EFO	4	EFO	Autosomal anomaly	Paternal 14q32.2 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254525	"" []	3187736	\N	\N	EFO	5	EFO	genetic disorder	Paternal 14q32.2 microdeletion syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254525	"" []	3187737	\N	\N	EFO	5	EFO	genetic disorder	Paternal 14q32.2 microdeletion syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:254525	"" []	3187738	\N	\N	EFO	5	EFO	endocrine system disease	Paternal 14q32.2 microdeletion syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:254525	"" []	3187739	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Paternal 14q32.2 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:254525	"" []	3187740	\N	\N	EFO	5	EFO	Chromosomal anomaly	Paternal 14q32.2 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254525	"" []	5412942	\N	\N	EFO	7	EFO	disease	Paternal 14q32.2 microdeletion syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254525	"" []	4394876	\N	\N	EFO	6	EFO	disease	Paternal 14q32.2 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254525	"" []	4394877	\N	\N	EFO	6	EFO	genetic disorder	Paternal 14q32.2 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254525	"" []	4394878	\N	\N	EFO	6	EFO	genetic disorder	Paternal 14q32.2 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254525	"" []	5997570	\N	\N	EFO	8	EFO	disposition	Paternal 14q32.2 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254525	"" []	6550929	\N	\N	EFO	9	EFO	material property	Paternal 14q32.2 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254525	"" []	6889172	\N	\N	EFO	10	EFO	experimental factor	Paternal 14q32.2 microdeletion syndrome
Orphanet:254528	\N	\N	"" []	Orphanet:254528	"" []	75122	\N	\N	EFO	0	EFO	Maternal 14q32.2 microdeletion syndrome	Maternal 14q32.2 microdeletion syndrome
Orphanet:254519	Orphanet:254528	\N	"" []	Orphanet:254528	"" []	217526	\N	\N	EFO	1	EFO	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	Maternal 14q32.2 microdeletion syndrome
Orphanet:102283	Orphanet:254519	\N	"" []	Orphanet:254528	"" []	572303	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Maternal 14q32.2 microdeletion syndrome
Orphanet:183763	Orphanet:254519	\N	"" []	Orphanet:254528	"" []	572304	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Maternal 14q32.2 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:254528	"" []	1154699	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Maternal 14q32.2 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:254528	"" []	1154700	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Maternal 14q32.2 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:254528	"" []	2037417	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Maternal 14q32.2 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:254528	"" []	2037418	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Maternal 14q32.2 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254528	"" []	3187741	\N	\N	EFO	5	EFO	genetic disorder	Maternal 14q32.2 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254528	"" []	3187742	\N	\N	EFO	5	EFO	genetic disorder	Maternal 14q32.2 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254528	"" []	4394879	\N	\N	EFO	6	EFO	disease	Maternal 14q32.2 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254528	"" []	5412943	\N	\N	EFO	7	EFO	disposition	Maternal 14q32.2 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254528	"" []	6149612	\N	\N	EFO	8	EFO	material property	Maternal 14q32.2 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254528	"" []	6632703	\N	\N	EFO	9	EFO	experimental factor	Maternal 14q32.2 microdeletion syndrome
Orphanet:254531	\N	\N	"" []	Orphanet:254531	"" []	75123	\N	\N	EFO	0	EFO	Paternal 14q32.2 hypomethylation syndrome	Paternal 14q32.2 hypomethylation syndrome
Orphanet:254516	Orphanet:254531	\N	"" []	Orphanet:254531	"" []	217527	\N	\N	EFO	1	EFO	Motor developmental delay due to 14q32.2 paternally expressed gene defect	Paternal 14q32.2 hypomethylation syndrome
Orphanet:183763	Orphanet:254516	\N	"" []	Orphanet:254531	"" []	572305	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Paternal 14q32.2 hypomethylation syndrome
Orphanet:240371	Orphanet:254516	\N	"" []	Orphanet:254531	"" []	572306	\N	\N	EFO	2	EFO	Syndromic obesity	Paternal 14q32.2 hypomethylation syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:254531	"" []	1154701	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Paternal 14q32.2 hypomethylation syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:254531	"" []	1154702	\N	\N	EFO	3	EFO	Genetic obesity	Paternal 14q32.2 hypomethylation syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:254531	"" []	2037419	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Paternal 14q32.2 hypomethylation syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:254531	"" []	2037420	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Paternal 14q32.2 hypomethylation syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:254531	"" []	2037421	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Paternal 14q32.2 hypomethylation syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254531	"" []	3187743	\N	\N	EFO	5	EFO	genetic disorder	Paternal 14q32.2 hypomethylation syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254531	"" []	3187744	\N	\N	EFO	5	EFO	genetic disorder	Paternal 14q32.2 hypomethylation syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:254531	"" []	3187745	\N	\N	EFO	5	EFO	endocrine system disease	Paternal 14q32.2 hypomethylation syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:254531	"" []	3187746	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Paternal 14q32.2 hypomethylation syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254531	"" []	5412945	\N	\N	EFO	7	EFO	disease	Paternal 14q32.2 hypomethylation syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254531	"" []	4394881	\N	\N	EFO	6	EFO	disease	Paternal 14q32.2 hypomethylation syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254531	"" []	4394882	\N	\N	EFO	6	EFO	genetic disorder	Paternal 14q32.2 hypomethylation syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254531	"" []	5997571	\N	\N	EFO	8	EFO	disposition	Paternal 14q32.2 hypomethylation syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254531	"" []	6550930	\N	\N	EFO	9	EFO	material property	Paternal 14q32.2 hypomethylation syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254531	"" []	6889173	\N	\N	EFO	10	EFO	experimental factor	Paternal 14q32.2 hypomethylation syndrome
Orphanet:254534	\N	\N	"" []	Orphanet:254534	"" []	75124	\N	\N	EFO	0	EFO	Maternal 14q32.2 hypermethylation syndrome	Maternal 14q32.2 hypermethylation syndrome
Orphanet:254519	Orphanet:254534	\N	"" []	Orphanet:254534	"" []	217528	\N	\N	EFO	1	EFO	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	Maternal 14q32.2 hypermethylation syndrome
Orphanet:102283	Orphanet:254519	\N	"" []	Orphanet:254534	"" []	572307	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Maternal 14q32.2 hypermethylation syndrome
Orphanet:183763	Orphanet:254519	\N	"" []	Orphanet:254534	"" []	572308	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Maternal 14q32.2 hypermethylation syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:254534	"" []	1154703	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Maternal 14q32.2 hypermethylation syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:254534	"" []	1154704	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Maternal 14q32.2 hypermethylation syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:254534	"" []	2037422	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Maternal 14q32.2 hypermethylation syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:254534	"" []	2037423	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Maternal 14q32.2 hypermethylation syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254534	"" []	3187747	\N	\N	EFO	5	EFO	genetic disorder	Maternal 14q32.2 hypermethylation syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254534	"" []	3187748	\N	\N	EFO	5	EFO	genetic disorder	Maternal 14q32.2 hypermethylation syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254534	"" []	4394883	\N	\N	EFO	6	EFO	disease	Maternal 14q32.2 hypermethylation syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254534	"" []	5412946	\N	\N	EFO	7	EFO	disposition	Maternal 14q32.2 hypermethylation syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254534	"" []	6149614	\N	\N	EFO	8	EFO	material property	Maternal 14q32.2 hypermethylation syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254534	"" []	6632705	\N	\N	EFO	9	EFO	experimental factor	Maternal 14q32.2 hypermethylation syndrome
Orphanet:254704	\N	\N	"" []	Orphanet:254704	"" []	75125	\N	\N	EFO	0	EFO	Genetic hyperferritinemia without iron overload	Genetic hyperferritinemia without iron overload
EFO:0000508	Orphanet:254704	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254704	"" []	217529	\N	\N	EFO	1	EFO	genetic disorder	Genetic hyperferritinemia without iron overload
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254704	"" []	572309	\N	\N	EFO	2	EFO	disease	Genetic hyperferritinemia without iron overload
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254704	"" []	1154705	\N	\N	EFO	3	EFO	disposition	Genetic hyperferritinemia without iron overload
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254704	"" []	2037424	\N	\N	EFO	4	EFO	material property	Genetic hyperferritinemia without iron overload
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254704	"" []	3187749	\N	\N	EFO	5	EFO	experimental factor	Genetic hyperferritinemia without iron overload
Orphanet:254746	\N	\N	"" []	Orphanet:254746	"" []	75126	\N	\N	EFO	0	EFO	Pyruvate metabolism disorder	Pyruvate metabolism disorder
Orphanet:79200	Orphanet:254746	\N	"" []	Orphanet:254746	"" []	217530	\N	\N	EFO	1	EFO	Disorder of energy metabolism	Pyruvate metabolism disorder
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254746	"" []	572310	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Pyruvate metabolism disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254746	"" []	1154706	\N	\N	EFO	3	EFO	genetic disorder	Pyruvate metabolism disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254746	"" []	1154707	\N	\N	EFO	3	EFO	metabolic disease	Pyruvate metabolism disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254746	"" []	2037425	\N	\N	EFO	4	EFO	disease	Pyruvate metabolism disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254746	"" []	2037426	\N	\N	EFO	4	EFO	disease	Pyruvate metabolism disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254746	"" []	3187750	\N	\N	EFO	5	EFO	disposition	Pyruvate metabolism disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254746	"" []	4394884	\N	\N	EFO	6	EFO	material property	Pyruvate metabolism disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254746	"" []	5412947	\N	\N	EFO	7	EFO	experimental factor	Pyruvate metabolism disorder
Orphanet:254749	\N	\N	"" []	Orphanet:254749	"" []	75127	\N	\N	EFO	0	EFO	Tricarboxylic acid cycle disorder	Tricarboxylic acid cycle disorder
Orphanet:79200	Orphanet:254749	\N	"" []	Orphanet:254749	"" []	217531	\N	\N	EFO	1	EFO	Disorder of energy metabolism	Tricarboxylic acid cycle disorder
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254749	"" []	572311	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Tricarboxylic acid cycle disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254749	"" []	1154708	\N	\N	EFO	3	EFO	genetic disorder	Tricarboxylic acid cycle disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254749	"" []	1154709	\N	\N	EFO	3	EFO	metabolic disease	Tricarboxylic acid cycle disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254749	"" []	2037427	\N	\N	EFO	4	EFO	disease	Tricarboxylic acid cycle disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254749	"" []	2037428	\N	\N	EFO	4	EFO	disease	Tricarboxylic acid cycle disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254749	"" []	3187751	\N	\N	EFO	5	EFO	disposition	Tricarboxylic acid cycle disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254749	"" []	4394885	\N	\N	EFO	6	EFO	material property	Tricarboxylic acid cycle disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254749	"" []	5412948	\N	\N	EFO	7	EFO	experimental factor	Tricarboxylic acid cycle disorder
Orphanet:254758	\N	\N	"" []	Orphanet:254758	"" []	75128	\N	\N	EFO	0	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:254758	"" []	217532	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254758	"" []	572312	\N	\N	EFO	2	EFO	Mitochondrial disease	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254758	"" []	1154710	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254758	"" []	1154711	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254758	"" []	2037429	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254758	"" []	2037430	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254758	"" []	3187752	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254758	"" []	3187753	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254758	"" []	3187754	\N	\N	EFO	5	EFO	metabolic disease	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254758	"" []	4394886	\N	\N	EFO	6	EFO	disease	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254758	"" []	4394887	\N	\N	EFO	6	EFO	disease	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254758	"" []	5412949	\N	\N	EFO	7	EFO	disposition	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254758	"" []	6149615	\N	\N	EFO	8	EFO	material property	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254758	"" []	6632706	\N	\N	EFO	9	EFO	experimental factor	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Orphanet:254767	\N	\N	"" []	Orphanet:254767	"" []	75129	\N	\N	EFO	0	EFO	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Orphanet:254758	Orphanet:254767	\N	"" []	Orphanet:254767	"" []	217533	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:254767	"" []	572313	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254767	"" []	1154712	\N	\N	EFO	3	EFO	Mitochondrial disease	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254767	"" []	2037431	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254767	"" []	2037432	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254767	"" []	3187755	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254767	"" []	3187756	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254767	"" []	4394888	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254767	"" []	4394889	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254767	"" []	4394890	\N	\N	EFO	6	EFO	metabolic disease	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254767	"" []	5412950	\N	\N	EFO	7	EFO	disease	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254767	"" []	5412951	\N	\N	EFO	7	EFO	disease	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254767	"" []	6149616	\N	\N	EFO	8	EFO	disposition	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254767	"" []	6632707	\N	\N	EFO	9	EFO	material property	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254767	"" []	6925623	\N	\N	EFO	10	EFO	experimental factor	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Orphanet:254776	\N	\N	"" []	Orphanet:254776	"" []	75130	\N	\N	EFO	0	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:254776	"" []	217534	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:254776	"" []	572314	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254776	"" []	1154713	\N	\N	EFO	3	EFO	Mitochondrial disease	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254776	"" []	2037433	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254776	"" []	2037434	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254776	"" []	3187757	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254776	"" []	3187758	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254776	"" []	4394891	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254776	"" []	4394892	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254776	"" []	4394893	\N	\N	EFO	6	EFO	metabolic disease	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254776	"" []	5412952	\N	\N	EFO	7	EFO	disease	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254776	"" []	5412953	\N	\N	EFO	7	EFO	disease	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254776	"" []	6149617	\N	\N	EFO	8	EFO	disposition	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254776	"" []	6632708	\N	\N	EFO	9	EFO	material property	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254776	"" []	6925624	\N	\N	EFO	10	EFO	experimental factor	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Orphanet:254788	\N	\N	"" []	Orphanet:254788	"" []	75131	\N	\N	EFO	0	EFO	Maternally-inherited mitochondrial myopathy	Maternally-inherited mitochondrial myopathy
Orphanet:254776	Orphanet:254788	\N	"" []	Orphanet:254788	"" []	217535	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Maternally-inherited mitochondrial myopathy
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:254788	"" []	572315	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Maternally-inherited mitochondrial myopathy
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:254788	"" []	1154714	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Maternally-inherited mitochondrial myopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254788	"" []	2037435	\N	\N	EFO	4	EFO	Mitochondrial disease	Maternally-inherited mitochondrial myopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254788	"" []	3187759	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Maternally-inherited mitochondrial myopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254788	"" []	3187760	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Maternally-inherited mitochondrial myopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254788	"" []	4394894	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Maternally-inherited mitochondrial myopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254788	"" []	4394895	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Maternally-inherited mitochondrial myopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254788	"" []	5412954	\N	\N	EFO	7	EFO	genetic disorder	Maternally-inherited mitochondrial myopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254788	"" []	5412955	\N	\N	EFO	7	EFO	genetic disorder	Maternally-inherited mitochondrial myopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254788	"" []	5412956	\N	\N	EFO	7	EFO	metabolic disease	Maternally-inherited mitochondrial myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254788	"" []	6149618	\N	\N	EFO	8	EFO	disease	Maternally-inherited mitochondrial myopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254788	"" []	6149619	\N	\N	EFO	8	EFO	disease	Maternally-inherited mitochondrial myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254788	"" []	6632709	\N	\N	EFO	9	EFO	disposition	Maternally-inherited mitochondrial myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254788	"" []	6925625	\N	\N	EFO	10	EFO	material property	Maternally-inherited mitochondrial myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254788	"" []	7099083	\N	\N	EFO	11	EFO	experimental factor	Maternally-inherited mitochondrial myopathy
Orphanet:254793	\N	\N	"" []	Orphanet:254793	"" []	75132	\N	\N	EFO	0	EFO	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
Orphanet:254758	Orphanet:254793	\N	"" []	Orphanet:254793	"" []	217536	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:254793	"" []	572316	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254793	"" []	1154715	\N	\N	EFO	3	EFO	Mitochondrial disease	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254793	"" []	2037436	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254793	"" []	2037437	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254793	"" []	3187761	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254793	"" []	3187762	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254793	"" []	4394896	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254793	"" []	4394897	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254793	"" []	4394898	\N	\N	EFO	6	EFO	metabolic disease	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254793	"" []	5412957	\N	\N	EFO	7	EFO	disease	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254793	"" []	5412958	\N	\N	EFO	7	EFO	disease	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254793	"" []	6149620	\N	\N	EFO	8	EFO	disposition	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254793	"" []	6632710	\N	\N	EFO	9	EFO	material property	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254793	"" []	6925626	\N	\N	EFO	10	EFO	experimental factor	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
Orphanet:254803	\N	\N	"" []	Orphanet:254803	"" []	75133	\N	\N	EFO	0	EFO	Mitochondrial DNA depletion syndrome, encephalomyopathic form	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:35698	Orphanet:254803	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:254803	"" []	217537	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:68385	Orphanet:254803	\N	"" []	Orphanet:254803	"" []	217538	\N	\N	EFO	1	EFO	Neurometabolic disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:254803	"" []	572317	\N	\N	EFO	2	EFO	Metabolic disease with intestinal involvement	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:254803	"" []	572318	\N	\N	EFO	2	EFO	Mitochondrial myopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:254803	"" []	572319	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:254803	"" []	572320	\N	\N	EFO	2	EFO	Mitochondrial disease with eye involvement	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:254803	"" []	572321	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:254803	"" []	1154716	\N	\N	EFO	3	EFO	Genetic intestinal disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:254803	"" []	1154717	\N	\N	EFO	3	EFO	Muscular lipidosis	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254803	"" []	1154718	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:254803	"" []	1154719	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254803	"" []	6632712	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:254803	"" []	2037438	\N	\N	EFO	4	EFO	digestive system disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:254803	"" []	2037439	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:254803	"" []	2037440	\N	\N	EFO	4	EFO	Metabolic myopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254803	"" []	2037441	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:254803	"" []	2037442	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254803	"" []	6758573	\N	\N	EFO	10	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254803	"" []	3187763	\N	\N	EFO	5	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254803	"" []	3187764	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:254803	"" []	3187765	\N	\N	EFO	5	EFO	Non-dystrophic myopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254803	"" []	3187766	\N	\N	EFO	5	EFO	Mitochondrial disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254803	"" []	3187767	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:254803	"" []	3187768	\N	\N	EFO	5	EFO	eye disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254803	"" []	7008642	\N	\N	EFO	11	EFO	disposition	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:254803	"" []	4394901	\N	\N	EFO	6	EFO	Genetic skeletal muscle disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254803	"" []	4394902	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254803	"" []	4394903	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254803	"" []	4394904	\N	\N	EFO	6	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254803	"" []	7167534	\N	\N	EFO	12	EFO	material property	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:254803	"" []	5412959	\N	\N	EFO	7	EFO	Genetic neuromuscular disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254803	"" []	5412960	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254803	"" []	5412961	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254803	"" []	7272438	\N	\N	EFO	13	EFO	experimental factor	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:254803	"" []	6149621	\N	\N	EFO	8	EFO	muscular disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:254803	"" []	6149622	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254803	"" []	6149623	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254803	"" []	6149624	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254803	"" []	6149625	\N	\N	EFO	8	EFO	metabolic disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:254803	"" []	6632711	\N	\N	EFO	9	EFO	skeletal system disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254803	"" []	6632714	\N	\N	EFO	9	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254803	"" []	6925627	\N	\N	EFO	10	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:254807	\N	\N	"" []	Orphanet:254807	"" []	75134	\N	\N	EFO	0	EFO	Multiple mitochondrial DNA deletion syndrome	Multiple mitochondrial DNA deletion syndrome
Orphanet:352456	Orphanet:254807	\N	"" []	Orphanet:254807	"" []	217539	\N	\N	EFO	1	EFO	Mitochondrial DNA maintenance syndrome	Multiple mitochondrial DNA deletion syndrome
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254807	"" []	572322	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Multiple mitochondrial DNA deletion syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254807	"" []	1154721	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Multiple mitochondrial DNA deletion syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254807	"" []	2037444	\N	\N	EFO	4	EFO	Mitochondrial disease	Multiple mitochondrial DNA deletion syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254807	"" []	3187770	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Multiple mitochondrial DNA deletion syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254807	"" []	3187771	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Multiple mitochondrial DNA deletion syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254807	"" []	4394906	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Multiple mitochondrial DNA deletion syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254807	"" []	4394907	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Multiple mitochondrial DNA deletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254807	"" []	5412963	\N	\N	EFO	7	EFO	genetic disorder	Multiple mitochondrial DNA deletion syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254807	"" []	5412964	\N	\N	EFO	7	EFO	genetic disorder	Multiple mitochondrial DNA deletion syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254807	"" []	5412965	\N	\N	EFO	7	EFO	metabolic disease	Multiple mitochondrial DNA deletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254807	"" []	6149626	\N	\N	EFO	8	EFO	disease	Multiple mitochondrial DNA deletion syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254807	"" []	6149627	\N	\N	EFO	8	EFO	disease	Multiple mitochondrial DNA deletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254807	"" []	6632715	\N	\N	EFO	9	EFO	disposition	Multiple mitochondrial DNA deletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254807	"" []	6925628	\N	\N	EFO	10	EFO	material property	Multiple mitochondrial DNA deletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254807	"" []	7099084	\N	\N	EFO	11	EFO	experimental factor	Multiple mitochondrial DNA deletion syndrome
Orphanet:254818	\N	\N	"" []	Orphanet:254818	"" []	75135	\N	\N	EFO	0	EFO	Ataxia neuropathy spectrum	Ataxia neuropathy spectrum
Orphanet:254807	Orphanet:254818	\N	"" []	Orphanet:254818	"" []	217540	\N	\N	EFO	1	EFO	Multiple mitochondrial DNA deletion syndrome	Ataxia neuropathy spectrum
Orphanet:352456	Orphanet:254807	\N	"" []	Orphanet:254818	"" []	572323	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Ataxia neuropathy spectrum
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254818	"" []	1154722	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Ataxia neuropathy spectrum
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254818	"" []	2037445	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Ataxia neuropathy spectrum
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254818	"" []	3187772	\N	\N	EFO	5	EFO	Mitochondrial disease	Ataxia neuropathy spectrum
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254818	"" []	4394908	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Ataxia neuropathy spectrum
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254818	"" []	4394909	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Ataxia neuropathy spectrum
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254818	"" []	5412966	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Ataxia neuropathy spectrum
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254818	"" []	5412967	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Ataxia neuropathy spectrum
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254818	"" []	6149628	\N	\N	EFO	8	EFO	genetic disorder	Ataxia neuropathy spectrum
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254818	"" []	6149629	\N	\N	EFO	8	EFO	genetic disorder	Ataxia neuropathy spectrum
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254818	"" []	6149630	\N	\N	EFO	8	EFO	metabolic disease	Ataxia neuropathy spectrum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254818	"" []	6632716	\N	\N	EFO	9	EFO	disease	Ataxia neuropathy spectrum
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254818	"" []	6632717	\N	\N	EFO	9	EFO	disease	Ataxia neuropathy spectrum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254818	"" []	6925629	\N	\N	EFO	10	EFO	disposition	Ataxia neuropathy spectrum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254818	"" []	7099085	\N	\N	EFO	11	EFO	material property	Ataxia neuropathy spectrum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254818	"" []	7208293	\N	\N	EFO	12	EFO	experimental factor	Ataxia neuropathy spectrum
Orphanet:254822	\N	\N	"" []	Orphanet:254822	"" []	75136	\N	\N	EFO	0	EFO	Mitochondrial oxidative phosphorylation disorder with no known mechanism	Mitochondrial oxidative phosphorylation disorder with no known mechanism
Orphanet:2443	Orphanet:254822	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254822	"" []	217541	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial oxidative phosphorylation disorder with no known mechanism
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254822	"" []	572324	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial oxidative phosphorylation disorder with no known mechanism
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254822	"" []	1154723	\N	\N	EFO	3	EFO	Mitochondrial disease	Mitochondrial oxidative phosphorylation disorder with no known mechanism
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254822	"" []	2037446	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Mitochondrial oxidative phosphorylation disorder with no known mechanism
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254822	"" []	2037447	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Mitochondrial oxidative phosphorylation disorder with no known mechanism
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254822	"" []	3187773	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial oxidative phosphorylation disorder with no known mechanism
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254822	"" []	3187774	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Mitochondrial oxidative phosphorylation disorder with no known mechanism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254822	"" []	4394910	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder with no known mechanism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254822	"" []	4394911	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial oxidative phosphorylation disorder with no known mechanism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254822	"" []	4394912	\N	\N	EFO	6	EFO	metabolic disease	Mitochondrial oxidative phosphorylation disorder with no known mechanism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254822	"" []	5412968	\N	\N	EFO	7	EFO	disease	Mitochondrial oxidative phosphorylation disorder with no known mechanism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254822	"" []	5412969	\N	\N	EFO	7	EFO	disease	Mitochondrial oxidative phosphorylation disorder with no known mechanism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254822	"" []	6149631	\N	\N	EFO	8	EFO	disposition	Mitochondrial oxidative phosphorylation disorder with no known mechanism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254822	"" []	6632718	\N	\N	EFO	9	EFO	material property	Mitochondrial oxidative phosphorylation disorder with no known mechanism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254822	"" []	6925630	\N	\N	EFO	10	EFO	experimental factor	Mitochondrial oxidative phosphorylation disorder with no known mechanism
Orphanet:254827	\N	\N	"" []	Orphanet:254827	"" []	75137	\N	\N	EFO	0	EFO	Mitochondrial membrane transport disorder	Mitochondrial membrane transport disorder
Orphanet:68380	Orphanet:254827	\N	"" []	Orphanet:254827	"" []	217542	\N	\N	EFO	1	EFO	Mitochondrial disease	Mitochondrial membrane transport disorder
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254827	"" []	572325	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Mitochondrial membrane transport disorder
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254827	"" []	572326	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Mitochondrial membrane transport disorder
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254827	"" []	1154724	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial membrane transport disorder
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254827	"" []	1154725	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Mitochondrial membrane transport disorder
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254827	"" []	2037448	\N	\N	EFO	4	EFO	genetic disorder	Mitochondrial membrane transport disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254827	"" []	2037449	\N	\N	EFO	4	EFO	genetic disorder	Mitochondrial membrane transport disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254827	"" []	2037450	\N	\N	EFO	4	EFO	metabolic disease	Mitochondrial membrane transport disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254827	"" []	3187775	\N	\N	EFO	5	EFO	disease	Mitochondrial membrane transport disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254827	"" []	3187776	\N	\N	EFO	5	EFO	disease	Mitochondrial membrane transport disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254827	"" []	4394913	\N	\N	EFO	6	EFO	disposition	Mitochondrial membrane transport disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254827	"" []	5412970	\N	\N	EFO	7	EFO	material property	Mitochondrial membrane transport disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254827	"" []	6149632	\N	\N	EFO	8	EFO	experimental factor	Mitochondrial membrane transport disorder
Orphanet:254830	\N	\N	"" []	Orphanet:254830	"" []	75138	\N	\N	EFO	0	EFO	Mitochondrial substrate carrier disorder	Mitochondrial substrate carrier disorder
Orphanet:254827	Orphanet:254830	\N	"" []	Orphanet:254830	"" []	217543	\N	\N	EFO	1	EFO	Mitochondrial membrane transport disorder	Mitochondrial substrate carrier disorder
Orphanet:68380	Orphanet:254827	\N	"" []	Orphanet:254830	"" []	572327	\N	\N	EFO	2	EFO	Mitochondrial disease	Mitochondrial substrate carrier disorder
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254830	"" []	1154726	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Mitochondrial substrate carrier disorder
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254830	"" []	1154727	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Mitochondrial substrate carrier disorder
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254830	"" []	2037451	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial substrate carrier disorder
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254830	"" []	2037452	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mitochondrial substrate carrier disorder
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254830	"" []	3187777	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial substrate carrier disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254830	"" []	3187778	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial substrate carrier disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254830	"" []	3187779	\N	\N	EFO	5	EFO	metabolic disease	Mitochondrial substrate carrier disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254830	"" []	4394914	\N	\N	EFO	6	EFO	disease	Mitochondrial substrate carrier disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254830	"" []	4394915	\N	\N	EFO	6	EFO	disease	Mitochondrial substrate carrier disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254830	"" []	5412971	\N	\N	EFO	7	EFO	disposition	Mitochondrial substrate carrier disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254830	"" []	6149633	\N	\N	EFO	8	EFO	material property	Mitochondrial substrate carrier disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254830	"" []	6632719	\N	\N	EFO	9	EFO	experimental factor	Mitochondrial substrate carrier disorder
Orphanet:254834	\N	\N	"" []	Orphanet:254834	"" []	75139	\N	\N	EFO	0	EFO	Mitochondrial protein import disorder	Mitochondrial protein import disorder
Orphanet:254827	Orphanet:254834	\N	"" []	Orphanet:254834	"" []	217544	\N	\N	EFO	1	EFO	Mitochondrial membrane transport disorder	Mitochondrial protein import disorder
Orphanet:68380	Orphanet:254827	\N	"" []	Orphanet:254834	"" []	572328	\N	\N	EFO	2	EFO	Mitochondrial disease	Mitochondrial protein import disorder
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254834	"" []	1154728	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Mitochondrial protein import disorder
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254834	"" []	1154729	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Mitochondrial protein import disorder
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254834	"" []	2037453	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial protein import disorder
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254834	"" []	2037454	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mitochondrial protein import disorder
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254834	"" []	3187780	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial protein import disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254834	"" []	3187781	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial protein import disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254834	"" []	3187782	\N	\N	EFO	5	EFO	metabolic disease	Mitochondrial protein import disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254834	"" []	4394916	\N	\N	EFO	6	EFO	disease	Mitochondrial protein import disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254834	"" []	4394917	\N	\N	EFO	6	EFO	disease	Mitochondrial protein import disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254834	"" []	5412972	\N	\N	EFO	7	EFO	disposition	Mitochondrial protein import disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254834	"" []	6149634	\N	\N	EFO	8	EFO	material property	Mitochondrial protein import disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254834	"" []	6632720	\N	\N	EFO	9	EFO	experimental factor	Mitochondrial protein import disorder
Orphanet:254837	\N	\N	"" []	Orphanet:254837	"" []	75140	\N	\N	EFO	0	EFO	Unspecified mitochondrial disorder	Unspecified mitochondrial disorder
Orphanet:68380	Orphanet:254837	\N	"" []	Orphanet:254837	"" []	217545	\N	\N	EFO	1	EFO	Mitochondrial disease	Unspecified mitochondrial disorder
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254837	"" []	572329	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Unspecified mitochondrial disorder
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254837	"" []	572330	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Unspecified mitochondrial disorder
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254837	"" []	1154730	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Unspecified mitochondrial disorder
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254837	"" []	1154731	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Unspecified mitochondrial disorder
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254837	"" []	2037455	\N	\N	EFO	4	EFO	genetic disorder	Unspecified mitochondrial disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254837	"" []	2037456	\N	\N	EFO	4	EFO	genetic disorder	Unspecified mitochondrial disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254837	"" []	2037457	\N	\N	EFO	4	EFO	metabolic disease	Unspecified mitochondrial disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254837	"" []	3187783	\N	\N	EFO	5	EFO	disease	Unspecified mitochondrial disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254837	"" []	3187784	\N	\N	EFO	5	EFO	disease	Unspecified mitochondrial disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254837	"" []	4394918	\N	\N	EFO	6	EFO	disposition	Unspecified mitochondrial disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254837	"" []	5412973	\N	\N	EFO	7	EFO	material property	Unspecified mitochondrial disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254837	"" []	6149635	\N	\N	EFO	8	EFO	experimental factor	Unspecified mitochondrial disorder
Orphanet:254843	\N	\N	"" []	Orphanet:254843	"" []	75141	\N	\N	EFO	0	EFO	Exercise intolerance with lactic acidosis	Exercise intolerance with lactic acidosis
Orphanet:309136	Orphanet:254843	\N	"" []	Orphanet:254843	"" []	217546	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Exercise intolerance with lactic acidosis
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254843	"" []	572331	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Exercise intolerance with lactic acidosis
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254843	"" []	1154732	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Exercise intolerance with lactic acidosis
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254843	"" []	2037458	\N	\N	EFO	4	EFO	Mitochondrial disease	Exercise intolerance with lactic acidosis
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254843	"" []	3187785	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Exercise intolerance with lactic acidosis
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254843	"" []	3187786	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Exercise intolerance with lactic acidosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254843	"" []	4394919	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Exercise intolerance with lactic acidosis
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254843	"" []	4394920	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Exercise intolerance with lactic acidosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254843	"" []	5412974	\N	\N	EFO	7	EFO	genetic disorder	Exercise intolerance with lactic acidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254843	"" []	5412975	\N	\N	EFO	7	EFO	genetic disorder	Exercise intolerance with lactic acidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254843	"" []	5412976	\N	\N	EFO	7	EFO	metabolic disease	Exercise intolerance with lactic acidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254843	"" []	6149636	\N	\N	EFO	8	EFO	disease	Exercise intolerance with lactic acidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254843	"" []	6149637	\N	\N	EFO	8	EFO	disease	Exercise intolerance with lactic acidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254843	"" []	6632721	\N	\N	EFO	9	EFO	disposition	Exercise intolerance with lactic acidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254843	"" []	6925631	\N	\N	EFO	10	EFO	material property	Exercise intolerance with lactic acidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254843	"" []	7099086	\N	\N	EFO	11	EFO	experimental factor	Exercise intolerance with lactic acidosis
Orphanet:254846	\N	\N	"" []	Orphanet:254846	"" []	75142	\N	\N	EFO	0	EFO	Isolated oxidative phosphorylation complex disorder	Isolated oxidative phosphorylation complex disorder
Orphanet:223713	Orphanet:254846	\N	"" []	Orphanet:254846	"" []	217547	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder	Isolated oxidative phosphorylation complex disorder
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254846	"" []	572332	\N	\N	EFO	2	EFO	Mitochondrial disease	Isolated oxidative phosphorylation complex disorder
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254846	"" []	1154733	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Isolated oxidative phosphorylation complex disorder
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254846	"" []	1154734	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Isolated oxidative phosphorylation complex disorder
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254846	"" []	2037459	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated oxidative phosphorylation complex disorder
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254846	"" []	2037460	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Isolated oxidative phosphorylation complex disorder
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254846	"" []	3187787	\N	\N	EFO	5	EFO	genetic disorder	Isolated oxidative phosphorylation complex disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254846	"" []	3187788	\N	\N	EFO	5	EFO	genetic disorder	Isolated oxidative phosphorylation complex disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254846	"" []	3187789	\N	\N	EFO	5	EFO	metabolic disease	Isolated oxidative phosphorylation complex disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254846	"" []	4394921	\N	\N	EFO	6	EFO	disease	Isolated oxidative phosphorylation complex disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254846	"" []	4394922	\N	\N	EFO	6	EFO	disease	Isolated oxidative phosphorylation complex disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254846	"" []	5412977	\N	\N	EFO	7	EFO	disposition	Isolated oxidative phosphorylation complex disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254846	"" []	6149638	\N	\N	EFO	8	EFO	material property	Isolated oxidative phosphorylation complex disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254846	"" []	6632722	\N	\N	EFO	9	EFO	experimental factor	Isolated oxidative phosphorylation complex disorder
Orphanet:254851	\N	\N	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	75143	\N	\N	EFO	0	EFO	Maternally-inherited mitochondrial dystonia	Maternally-inherited mitochondrial dystonia
Orphanet:254776	Orphanet:254851	\N	"" []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	217548	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Maternally-inherited mitochondrial dystonia
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	572333	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Maternally-inherited mitochondrial dystonia
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	1154735	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Maternally-inherited mitochondrial dystonia
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	2037461	\N	\N	EFO	4	EFO	Mitochondrial disease	Maternally-inherited mitochondrial dystonia
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	3187790	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Maternally-inherited mitochondrial dystonia
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	3187791	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Maternally-inherited mitochondrial dystonia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	4394923	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Maternally-inherited mitochondrial dystonia
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	4394924	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Maternally-inherited mitochondrial dystonia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	5412978	\N	\N	EFO	7	EFO	genetic disorder	Maternally-inherited mitochondrial dystonia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	5412979	\N	\N	EFO	7	EFO	genetic disorder	Maternally-inherited mitochondrial dystonia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	5412980	\N	\N	EFO	7	EFO	metabolic disease	Maternally-inherited mitochondrial dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	6149639	\N	\N	EFO	8	EFO	disease	Maternally-inherited mitochondrial dystonia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	6149640	\N	\N	EFO	8	EFO	disease	Maternally-inherited mitochondrial dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	6632723	\N	\N	EFO	9	EFO	disposition	Maternally-inherited mitochondrial dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	6925632	\N	\N	EFO	10	EFO	material property	Maternally-inherited mitochondrial dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254851	"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." []	7099087	\N	\N	EFO	11	EFO	experimental factor	Maternally-inherited mitochondrial dystonia
Orphanet:254854	\N	\N	"" []	Orphanet:254854	"" []	75144	\N	\N	EFO	0	EFO	Pure mitochondrial myopathy	Pure mitochondrial myopathy
Orphanet:254788	Orphanet:254854	\N	"" []	Orphanet:254854	"" []	217549	\N	\N	EFO	1	EFO	Maternally-inherited mitochondrial myopathy	Pure mitochondrial myopathy
Orphanet:254776	Orphanet:254788	\N	"" []	Orphanet:254854	"" []	572334	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Pure mitochondrial myopathy
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:254854	"" []	1154736	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Pure mitochondrial myopathy
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:254854	"" []	2037462	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Pure mitochondrial myopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254854	"" []	3187792	\N	\N	EFO	5	EFO	Mitochondrial disease	Pure mitochondrial myopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254854	"" []	4394925	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Pure mitochondrial myopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254854	"" []	4394926	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Pure mitochondrial myopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254854	"" []	5412981	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Pure mitochondrial myopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254854	"" []	5412982	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Pure mitochondrial myopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254854	"" []	6149641	\N	\N	EFO	8	EFO	genetic disorder	Pure mitochondrial myopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254854	"" []	6149642	\N	\N	EFO	8	EFO	genetic disorder	Pure mitochondrial myopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254854	"" []	6149643	\N	\N	EFO	8	EFO	metabolic disease	Pure mitochondrial myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254854	"" []	6632724	\N	\N	EFO	9	EFO	disease	Pure mitochondrial myopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254854	"" []	6632725	\N	\N	EFO	9	EFO	disease	Pure mitochondrial myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254854	"" []	6925633	\N	\N	EFO	10	EFO	disposition	Pure mitochondrial myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254854	"" []	7099088	\N	\N	EFO	11	EFO	material property	Pure mitochondrial myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254854	"" []	7208294	\N	\N	EFO	12	EFO	experimental factor	Pure mitochondrial myopathy
Orphanet:254857	\N	\N	"" []	Orphanet:254857	"" []	75145	\N	\N	EFO	0	EFO	Lethal infantile mitochondrial myopathy	Lethal infantile mitochondrial myopathy
Orphanet:254788	Orphanet:254857	\N	"" []	Orphanet:254857	"" []	217550	\N	\N	EFO	1	EFO	Maternally-inherited mitochondrial myopathy	Lethal infantile mitochondrial myopathy
Orphanet:254776	Orphanet:254788	\N	"" []	Orphanet:254857	"" []	572335	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Lethal infantile mitochondrial myopathy
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:254857	"" []	1154737	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Lethal infantile mitochondrial myopathy
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:254857	"" []	2037463	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Lethal infantile mitochondrial myopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254857	"" []	3187793	\N	\N	EFO	5	EFO	Mitochondrial disease	Lethal infantile mitochondrial myopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254857	"" []	4394927	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Lethal infantile mitochondrial myopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254857	"" []	4394928	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Lethal infantile mitochondrial myopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254857	"" []	5412983	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Lethal infantile mitochondrial myopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254857	"" []	5412984	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Lethal infantile mitochondrial myopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254857	"" []	6149644	\N	\N	EFO	8	EFO	genetic disorder	Lethal infantile mitochondrial myopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254857	"" []	6149645	\N	\N	EFO	8	EFO	genetic disorder	Lethal infantile mitochondrial myopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254857	"" []	6149646	\N	\N	EFO	8	EFO	metabolic disease	Lethal infantile mitochondrial myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254857	"" []	6632726	\N	\N	EFO	9	EFO	disease	Lethal infantile mitochondrial myopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254857	"" []	6632727	\N	\N	EFO	9	EFO	disease	Lethal infantile mitochondrial myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254857	"" []	6925634	\N	\N	EFO	10	EFO	disposition	Lethal infantile mitochondrial myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254857	"" []	7099089	\N	\N	EFO	11	EFO	material property	Lethal infantile mitochondrial myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254857	"" []	7208295	\N	\N	EFO	12	EFO	experimental factor	Lethal infantile mitochondrial myopathy
Orphanet:254864	\N	\N	"" []	Orphanet:254864	"" []	75146	\N	\N	EFO	0	EFO	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Orphanet:254788	Orphanet:254864	\N	"" []	Orphanet:254864	"" []	217551	\N	\N	EFO	1	EFO	Maternally-inherited mitochondrial myopathy	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Orphanet:254776	Orphanet:254788	\N	"" []	Orphanet:254864	"" []	572336	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:254864	"" []	1154738	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:254864	"" []	2037464	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254864	"" []	3187794	\N	\N	EFO	5	EFO	Mitochondrial disease	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254864	"" []	4394929	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254864	"" []	4394930	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254864	"" []	5412985	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254864	"" []	5412986	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254864	"" []	6149647	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254864	"" []	6149648	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254864	"" []	6149649	\N	\N	EFO	8	EFO	metabolic disease	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254864	"" []	6632728	\N	\N	EFO	9	EFO	disease	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254864	"" []	6632729	\N	\N	EFO	9	EFO	disease	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254864	"" []	6925635	\N	\N	EFO	10	EFO	disposition	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254864	"" []	7099090	\N	\N	EFO	11	EFO	material property	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254864	"" []	7208296	\N	\N	EFO	12	EFO	experimental factor	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Orphanet:254871	\N	\N	"" []	Orphanet:254871	"" []	75147	\N	\N	EFO	0	EFO	Mitochondrial DNA depletion syndrome, hepatocerebral form	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:35698	Orphanet:254871	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:254871	"" []	217552	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:254871	"" []	572337	\N	\N	EFO	2	EFO	Metabolic disease with intestinal involvement	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:254871	"" []	572338	\N	\N	EFO	2	EFO	Mitochondrial myopathy	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:254871	"" []	572339	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:254871	"" []	572340	\N	\N	EFO	2	EFO	Mitochondrial disease with eye involvement	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:254871	"" []	1154739	\N	\N	EFO	3	EFO	Genetic intestinal disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:254871	"" []	1154740	\N	\N	EFO	3	EFO	Muscular lipidosis	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254871	"" []	1154741	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:254871	"" []	1154742	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:254871	"" []	2037465	\N	\N	EFO	4	EFO	digestive system disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:254871	"" []	2037466	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:254871	"" []	2037467	\N	\N	EFO	4	EFO	Metabolic myopathy	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254871	"" []	2037468	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:254871	"" []	2037469	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254871	"" []	3187795	\N	\N	EFO	5	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254871	"" []	3187796	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:254871	"" []	3187797	\N	\N	EFO	5	EFO	Non-dystrophic myopathy	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254871	"" []	3187798	\N	\N	EFO	5	EFO	Mitochondrial disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254871	"" []	3187799	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:254871	"" []	3187800	\N	\N	EFO	5	EFO	eye disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254871	"" []	7029883	\N	\N	EFO	11	EFO	disposition	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254871	"" []	6925637	\N	\N	EFO	10	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:254871	"" []	4394933	\N	\N	EFO	6	EFO	Genetic skeletal muscle disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254871	"" []	4394934	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254871	"" []	4394935	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254871	"" []	4394936	\N	\N	EFO	6	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254871	"" []	7173628	\N	\N	EFO	12	EFO	material property	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:254871	"" []	5412989	\N	\N	EFO	7	EFO	Genetic neuromuscular disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254871	"" []	5412990	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254871	"" []	5412991	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254871	"" []	7275674	\N	\N	EFO	13	EFO	experimental factor	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:254871	"" []	6149651	\N	\N	EFO	8	EFO	muscular disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:254871	"" []	6149652	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254871	"" []	6149653	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254871	"" []	6149654	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254871	"" []	6149655	\N	\N	EFO	8	EFO	metabolic disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:254871	"" []	6632730	\N	\N	EFO	9	EFO	skeletal system disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254871	"" []	6632731	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254871	"" []	6632733	\N	\N	EFO	9	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254871	"" []	6925636	\N	\N	EFO	10	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet:254875	\N	\N	"" []	Orphanet:254875	"" []	75148	\N	\N	EFO	0	EFO	Mitochondrial DNA depletion syndrome, myopathic form	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:35698	Orphanet:254875	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:254875	"" []	217553	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:79193	Orphanet:254875	\N	"ANPM" []	Orphanet:254875	"" []	217554	\N	\N	EFO	1	EFO	Disorder of pyrimidine metabolism	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:254875	"" []	572341	\N	\N	EFO	2	EFO	Metabolic disease with intestinal involvement	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:254875	"" []	572342	\N	\N	EFO	2	EFO	Mitochondrial myopathy	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:254875	"" []	572343	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:254875	"" []	572344	\N	\N	EFO	2	EFO	Mitochondrial disease with eye involvement	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:79224	Orphanet:79193	\N	"" []	Orphanet:254875	"" []	572345	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:254875	"" []	1154743	\N	\N	EFO	3	EFO	Genetic intestinal disease	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:254875	"" []	1154744	\N	\N	EFO	3	EFO	Muscular lipidosis	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254875	"" []	1154745	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:254875	"" []	1154746	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:254875	"" []	1154747	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:254875	"" []	2037470	\N	\N	EFO	4	EFO	digestive system disease	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:254875	"" []	2037471	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:254875	"" []	2037472	\N	\N	EFO	4	EFO	Metabolic myopathy	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254875	"" []	2037473	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:254875	"" []	2037474	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254875	"" []	6149660	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254875	"" []	6149661	\N	\N	EFO	8	EFO	metabolic disease	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254875	"" []	3187801	\N	\N	EFO	5	EFO	disease	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254875	"" []	3187802	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:254875	"" []	3187803	\N	\N	EFO	5	EFO	Non-dystrophic myopathy	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254875	"" []	3187804	\N	\N	EFO	5	EFO	Mitochondrial disease	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254875	"" []	3187805	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:254875	"" []	3187806	\N	\N	EFO	5	EFO	eye disease	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254875	"" []	6925639	\N	\N	EFO	10	EFO	disease	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254875	"" []	6378887	\N	\N	EFO	9	EFO	disease	Mitochondrial DNA depletion syndrome, myopathic form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254875	"" []	7015681	\N	\N	EFO	11	EFO	disposition	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:254875	"" []	4394939	\N	\N	EFO	6	EFO	Genetic skeletal muscle disease	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254875	"" []	4394940	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254875	"" []	4394941	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254875	"" []	4394942	\N	\N	EFO	6	EFO	disease	Mitochondrial DNA depletion syndrome, myopathic form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254875	"" []	7173629	\N	\N	EFO	12	EFO	material property	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:254875	"" []	5412993	\N	\N	EFO	7	EFO	Genetic neuromuscular disease	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254875	"" []	5412994	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254875	"" []	5412995	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254875	"" []	7275675	\N	\N	EFO	13	EFO	experimental factor	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:254875	"" []	6149657	\N	\N	EFO	8	EFO	muscular disease	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:254875	"" []	6149658	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254875	"" []	6149659	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:254875	"" []	6632734	\N	\N	EFO	9	EFO	skeletal system disease	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254875	"" []	6632735	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, myopathic form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254875	"" []	6925638	\N	\N	EFO	10	EFO	disease	Mitochondrial DNA depletion syndrome, myopathic form
Orphanet:254881	\N	\N	"" []	Orphanet:254881	"" []	75149	\N	\N	EFO	0	EFO	Spinocerebellar ataxia with epilepsy	Spinocerebellar ataxia with epilepsy
Orphanet:254818	Orphanet:254881	\N	"" []	Orphanet:254881	"" []	217555	\N	\N	EFO	1	EFO	Ataxia neuropathy spectrum	Spinocerebellar ataxia with epilepsy
Orphanet:254807	Orphanet:254818	\N	"" []	Orphanet:254881	"" []	572346	\N	\N	EFO	2	EFO	Multiple mitochondrial DNA deletion syndrome	Spinocerebellar ataxia with epilepsy
Orphanet:352456	Orphanet:254807	\N	"" []	Orphanet:254881	"" []	1154748	\N	\N	EFO	3	EFO	Mitochondrial DNA maintenance syndrome	Spinocerebellar ataxia with epilepsy
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254881	"" []	2037477	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Spinocerebellar ataxia with epilepsy
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254881	"" []	3187809	\N	\N	EFO	5	EFO	Mitochondrial oxidative phosphorylation disorder	Spinocerebellar ataxia with epilepsy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254881	"" []	4394943	\N	\N	EFO	6	EFO	Mitochondrial disease	Spinocerebellar ataxia with epilepsy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254881	"" []	5412996	\N	\N	EFO	7	EFO	Developmental anomaly of metabolic origin	Spinocerebellar ataxia with epilepsy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254881	"" []	5412997	\N	\N	EFO	7	EFO	Disorder of energy metabolism	Spinocerebellar ataxia with epilepsy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254881	"" []	6149662	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Spinocerebellar ataxia with epilepsy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254881	"" []	6149663	\N	\N	EFO	8	EFO	Inborn errors of metabolism	Spinocerebellar ataxia with epilepsy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254881	"" []	6632736	\N	\N	EFO	9	EFO	genetic disorder	Spinocerebellar ataxia with epilepsy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254881	"" []	6632737	\N	\N	EFO	9	EFO	genetic disorder	Spinocerebellar ataxia with epilepsy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254881	"" []	6632738	\N	\N	EFO	9	EFO	metabolic disease	Spinocerebellar ataxia with epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254881	"" []	6925640	\N	\N	EFO	10	EFO	disease	Spinocerebellar ataxia with epilepsy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254881	"" []	6925641	\N	\N	EFO	10	EFO	disease	Spinocerebellar ataxia with epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254881	"" []	7099091	\N	\N	EFO	11	EFO	disposition	Spinocerebellar ataxia with epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254881	"" []	7208297	\N	\N	EFO	12	EFO	material property	Spinocerebellar ataxia with epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254881	"" []	7287300	\N	\N	EFO	13	EFO	experimental factor	Spinocerebellar ataxia with epilepsy
Orphanet:254886	\N	\N	"" []	Orphanet:254886	"" []	75150	\N	\N	EFO	0	EFO	Autosomal recessive progressive external ophthalmoplegia	Autosomal recessive progressive external ophthalmoplegia
Orphanet:254807	Orphanet:254886	\N	"" []	Orphanet:254886	"" []	217556	\N	\N	EFO	1	EFO	Multiple mitochondrial DNA deletion syndrome	Autosomal recessive progressive external ophthalmoplegia
Orphanet:352456	Orphanet:254807	\N	"" []	Orphanet:254886	"" []	572347	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Autosomal recessive progressive external ophthalmoplegia
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254886	"" []	1154749	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal recessive progressive external ophthalmoplegia
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254886	"" []	2037478	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal recessive progressive external ophthalmoplegia
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254886	"" []	3187810	\N	\N	EFO	5	EFO	Mitochondrial disease	Autosomal recessive progressive external ophthalmoplegia
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254886	"" []	4394944	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Autosomal recessive progressive external ophthalmoplegia
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254886	"" []	4394945	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Autosomal recessive progressive external ophthalmoplegia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254886	"" []	5412998	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive progressive external ophthalmoplegia
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254886	"" []	5412999	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Autosomal recessive progressive external ophthalmoplegia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254886	"" []	6149664	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive progressive external ophthalmoplegia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254886	"" []	6149665	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive progressive external ophthalmoplegia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254886	"" []	6149666	\N	\N	EFO	8	EFO	metabolic disease	Autosomal recessive progressive external ophthalmoplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254886	"" []	6632739	\N	\N	EFO	9	EFO	disease	Autosomal recessive progressive external ophthalmoplegia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254886	"" []	6632740	\N	\N	EFO	9	EFO	disease	Autosomal recessive progressive external ophthalmoplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254886	"" []	6925642	\N	\N	EFO	10	EFO	disposition	Autosomal recessive progressive external ophthalmoplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254886	"" []	7099092	\N	\N	EFO	11	EFO	material property	Autosomal recessive progressive external ophthalmoplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254886	"" []	7208298	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive progressive external ophthalmoplegia
Orphanet:254892	\N	\N	"" []	Orphanet:254892	"" []	75151	\N	\N	EFO	0	EFO	Autosomal dominant progressive external ophthalmoplegia	Autosomal dominant progressive external ophthalmoplegia
Orphanet:254807	Orphanet:254892	\N	"" []	Orphanet:254892	"" []	217557	\N	\N	EFO	1	EFO	Multiple mitochondrial DNA deletion syndrome	Autosomal dominant progressive external ophthalmoplegia
Orphanet:352456	Orphanet:254807	\N	"" []	Orphanet:254892	"" []	572348	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Autosomal dominant progressive external ophthalmoplegia
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254892	"" []	1154750	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal dominant progressive external ophthalmoplegia
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254892	"" []	2037479	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal dominant progressive external ophthalmoplegia
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254892	"" []	3187811	\N	\N	EFO	5	EFO	Mitochondrial disease	Autosomal dominant progressive external ophthalmoplegia
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254892	"" []	4394946	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Autosomal dominant progressive external ophthalmoplegia
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254892	"" []	4394947	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Autosomal dominant progressive external ophthalmoplegia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254892	"" []	5413000	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant progressive external ophthalmoplegia
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254892	"" []	5413001	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Autosomal dominant progressive external ophthalmoplegia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254892	"" []	6149667	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant progressive external ophthalmoplegia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254892	"" []	6149668	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant progressive external ophthalmoplegia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254892	"" []	6149669	\N	\N	EFO	8	EFO	metabolic disease	Autosomal dominant progressive external ophthalmoplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254892	"" []	6632741	\N	\N	EFO	9	EFO	disease	Autosomal dominant progressive external ophthalmoplegia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254892	"" []	6632742	\N	\N	EFO	9	EFO	disease	Autosomal dominant progressive external ophthalmoplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254892	"" []	6925643	\N	\N	EFO	10	EFO	disposition	Autosomal dominant progressive external ophthalmoplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254892	"" []	7099093	\N	\N	EFO	11	EFO	material property	Autosomal dominant progressive external ophthalmoplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254892	"" []	7208299	\N	\N	EFO	12	EFO	experimental factor	Autosomal dominant progressive external ophthalmoplegia
Orphanet:254898	\N	\N	"" []	Orphanet:254898	"" []	75152	\N	\N	EFO	0	EFO	Deafness - encephaloneuropathy - obesity - valvulopathy	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:35656	Orphanet:254898	\N	"" []	Orphanet:254898	"" []	217558	\N	\N	EFO	1	EFO	Coenzyme Q10 deficiency	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:225703	Orphanet:35656	\N	"" []	Orphanet:254898	"" []	572349	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:2443	Orphanet:35656	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254898	"" []	572350	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:68385	Orphanet:35656	\N	"" []	Orphanet:254898	"" []	572351	\N	\N	EFO	2	EFO	Neurometabolic disease	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:254898	"" []	1154751	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254898	"" []	1154752	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:254898	"" []	1154753	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:254898	"" []	2037480	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254898	"" []	2037481	\N	\N	EFO	4	EFO	Mitochondrial disease	Deafness - encephaloneuropathy - obesity - valvulopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254898	"" []	5413002	\N	\N	EFO	7	EFO	genetic disorder	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:254898	"" []	3187812	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254898	"" []	3187813	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254898	"" []	3187814	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Deafness - encephaloneuropathy - obesity - valvulopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254898	"" []	5817614	\N	\N	EFO	8	EFO	disease	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:254898	"" []	4394948	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254898	"" []	4394949	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254898	"" []	4394950	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Deafness - encephaloneuropathy - obesity - valvulopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254898	"" []	6410011	\N	\N	EFO	9	EFO	disposition	Deafness - encephaloneuropathy - obesity - valvulopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254898	"" []	5413003	\N	\N	EFO	7	EFO	genetic disorder	Deafness - encephaloneuropathy - obesity - valvulopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254898	"" []	5413004	\N	\N	EFO	7	EFO	genetic disorder	Deafness - encephaloneuropathy - obesity - valvulopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254898	"" []	5413005	\N	\N	EFO	7	EFO	metabolic disease	Deafness - encephaloneuropathy - obesity - valvulopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254898	"" []	6807859	\N	\N	EFO	10	EFO	material property	Deafness - encephaloneuropathy - obesity - valvulopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254898	"" []	6149670	\N	\N	EFO	8	EFO	disease	Deafness - encephaloneuropathy - obesity - valvulopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254898	"" []	7048630	\N	\N	EFO	11	EFO	experimental factor	Deafness - encephaloneuropathy - obesity - valvulopathy
Orphanet:2549	\N	\N	"" []	Orphanet:2549	"" []	75153	\N	\N	EFO	0	EFO	Oculoauriculovertebral spectrum with radial defects	Oculoauriculovertebral spectrum with radial defects
Orphanet:183576	Orphanet:2549	\N	"" []	Orphanet:2549	"" []	217559	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Oculoauriculovertebral spectrum with radial defects
Orphanet:330206	Orphanet:2549	\N	"" []	Orphanet:2549	"" []	217560	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Oculoauriculovertebral spectrum with radial defects
Orphanet:93453	Orphanet:2549	\N	"" []	Orphanet:2549	"" []	217561	\N	\N	EFO	1	EFO	Dysostosis with predominant craniofacial involvement	Oculoauriculovertebral spectrum with radial defects
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2549	"" []	572352	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Oculoauriculovertebral spectrum with radial defects
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2549	"" []	572353	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Oculoauriculovertebral spectrum with radial defects
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:2549	"" []	572354	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Oculoauriculovertebral spectrum with radial defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2549	"" []	3187818	\N	\N	EFO	5	EFO	genetic disorder	Oculoauriculovertebral spectrum with radial defects
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2549	"" []	1154755	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculoauriculovertebral spectrum with radial defects
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2549	"" []	1154756	\N	\N	EFO	3	EFO	Rare genetic bone disease	Oculoauriculovertebral spectrum with radial defects
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2549	"" []	1154757	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Oculoauriculovertebral spectrum with radial defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2549	"" []	4066896	\N	\N	EFO	6	EFO	disease	Oculoauriculovertebral spectrum with radial defects
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2549	"" []	2037485	\N	\N	EFO	4	EFO	genetic disorder	Oculoauriculovertebral spectrum with radial defects
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2549	"" []	2037486	\N	\N	EFO	4	EFO	bone disease	Oculoauriculovertebral spectrum with radial defects
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2549	"" []	2037487	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Oculoauriculovertebral spectrum with radial defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2549	"" []	5059844	\N	\N	EFO	7	EFO	disposition	Oculoauriculovertebral spectrum with radial defects
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2549	"" []	3187817	\N	\N	EFO	5	EFO	skeletal system disease	Oculoauriculovertebral spectrum with radial defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2549	"" []	5877104	\N	\N	EFO	8	EFO	material property	Oculoauriculovertebral spectrum with radial defects
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2549	"" []	4394953	\N	\N	EFO	6	EFO	disease	Oculoauriculovertebral spectrum with radial defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2549	"" []	6470329	\N	\N	EFO	9	EFO	experimental factor	Oculoauriculovertebral spectrum with radial defects
Orphanet:254902	\N	\N	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	75154	\N	\N	EFO	0	EFO	Renal tubulopathy - encephalopathy - liver failure	Renal tubulopathy - encephalopathy - liver failure
Orphanet:309136	Orphanet:254902	\N	"" []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	217562	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Renal tubulopathy - encephalopathy - liver failure
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	572355	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Renal tubulopathy - encephalopathy - liver failure
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	1154758	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Renal tubulopathy - encephalopathy - liver failure
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	2037488	\N	\N	EFO	4	EFO	Mitochondrial disease	Renal tubulopathy - encephalopathy - liver failure
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	3187819	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Renal tubulopathy - encephalopathy - liver failure
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	3187820	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Renal tubulopathy - encephalopathy - liver failure
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	4394954	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Renal tubulopathy - encephalopathy - liver failure
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	4394955	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Renal tubulopathy - encephalopathy - liver failure
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	5413008	\N	\N	EFO	7	EFO	genetic disorder	Renal tubulopathy - encephalopathy - liver failure
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	5413009	\N	\N	EFO	7	EFO	genetic disorder	Renal tubulopathy - encephalopathy - liver failure
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	5413010	\N	\N	EFO	7	EFO	metabolic disease	Renal tubulopathy - encephalopathy - liver failure
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	6149672	\N	\N	EFO	8	EFO	disease	Renal tubulopathy - encephalopathy - liver failure
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	6149673	\N	\N	EFO	8	EFO	disease	Renal tubulopathy - encephalopathy - liver failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	6632743	\N	\N	EFO	9	EFO	disposition	Renal tubulopathy - encephalopathy - liver failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	6925644	\N	\N	EFO	10	EFO	material property	Renal tubulopathy - encephalopathy - liver failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254902	"Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." []	7099094	\N	\N	EFO	11	EFO	experimental factor	Renal tubulopathy - encephalopathy - liver failure
Orphanet:254905	\N	\N	"" []	Orphanet:254905	"" []	75155	\N	\N	EFO	0	EFO	Isolated cytochrome C oxidase deficiency	Isolated cytochrome C oxidase deficiency
Orphanet:254846	Orphanet:254905	\N	"" []	Orphanet:254905	"" []	217563	\N	\N	EFO	1	EFO	Isolated oxidative phosphorylation complex disorder	Isolated cytochrome C oxidase deficiency
Orphanet:223713	Orphanet:254846	\N	"" []	Orphanet:254905	"" []	572356	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Isolated cytochrome C oxidase deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254905	"" []	1154759	\N	\N	EFO	3	EFO	Mitochondrial disease	Isolated cytochrome C oxidase deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254905	"" []	2037489	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Isolated cytochrome C oxidase deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254905	"" []	2037490	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Isolated cytochrome C oxidase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254905	"" []	3187821	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated cytochrome C oxidase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254905	"" []	3187822	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Isolated cytochrome C oxidase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254905	"" []	4394956	\N	\N	EFO	6	EFO	genetic disorder	Isolated cytochrome C oxidase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254905	"" []	4394957	\N	\N	EFO	6	EFO	genetic disorder	Isolated cytochrome C oxidase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254905	"" []	4394958	\N	\N	EFO	6	EFO	metabolic disease	Isolated cytochrome C oxidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254905	"" []	5413011	\N	\N	EFO	7	EFO	disease	Isolated cytochrome C oxidase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254905	"" []	5413012	\N	\N	EFO	7	EFO	disease	Isolated cytochrome C oxidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254905	"" []	6149674	\N	\N	EFO	8	EFO	disposition	Isolated cytochrome C oxidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254905	"" []	6632744	\N	\N	EFO	9	EFO	material property	Isolated cytochrome C oxidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254905	"" []	6925645	\N	\N	EFO	10	EFO	experimental factor	Isolated cytochrome C oxidase deficiency
Orphanet:254913	\N	\N	"" []	Orphanet:254913	"" []	75156	\N	\N	EFO	0	EFO	Isolated ATP synthase deficiency	Isolated ATP synthase deficiency
Orphanet:254846	Orphanet:254913	\N	"" []	Orphanet:254913	"" []	217564	\N	\N	EFO	1	EFO	Isolated oxidative phosphorylation complex disorder	Isolated ATP synthase deficiency
Orphanet:223713	Orphanet:254846	\N	"" []	Orphanet:254913	"" []	572357	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Isolated ATP synthase deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254913	"" []	1154760	\N	\N	EFO	3	EFO	Mitochondrial disease	Isolated ATP synthase deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254913	"" []	2037491	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Isolated ATP synthase deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254913	"" []	2037492	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Isolated ATP synthase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254913	"" []	3187823	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated ATP synthase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254913	"" []	3187824	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Isolated ATP synthase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254913	"" []	4394959	\N	\N	EFO	6	EFO	genetic disorder	Isolated ATP synthase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254913	"" []	4394960	\N	\N	EFO	6	EFO	genetic disorder	Isolated ATP synthase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254913	"" []	4394961	\N	\N	EFO	6	EFO	metabolic disease	Isolated ATP synthase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254913	"" []	5413013	\N	\N	EFO	7	EFO	disease	Isolated ATP synthase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254913	"" []	5413014	\N	\N	EFO	7	EFO	disease	Isolated ATP synthase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254913	"" []	6149675	\N	\N	EFO	8	EFO	disposition	Isolated ATP synthase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254913	"" []	6632745	\N	\N	EFO	9	EFO	material property	Isolated ATP synthase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254913	"" []	6925646	\N	\N	EFO	10	EFO	experimental factor	Isolated ATP synthase deficiency
Orphanet:254920	\N	\N	"" []	Orphanet:254920	"" []	75157	\N	\N	EFO	0	EFO	Combined oxidative phosphorylation defect type 2	Combined oxidative phosphorylation defect type 2
Orphanet:35696	Orphanet:254920	\N	"" []	Orphanet:254920	"" []	217565	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Combined oxidative phosphorylation defect type 2
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254920	"" []	572358	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Combined oxidative phosphorylation defect type 2
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254920	"" []	1154761	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Combined oxidative phosphorylation defect type 2
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254920	"" []	2037493	\N	\N	EFO	4	EFO	Mitochondrial disease	Combined oxidative phosphorylation defect type 2
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254920	"" []	3187825	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Combined oxidative phosphorylation defect type 2
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254920	"" []	3187826	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Combined oxidative phosphorylation defect type 2
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254920	"" []	4394962	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Combined oxidative phosphorylation defect type 2
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254920	"" []	4394963	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Combined oxidative phosphorylation defect type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254920	"" []	5413015	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254920	"" []	5413016	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254920	"" []	5413017	\N	\N	EFO	7	EFO	metabolic disease	Combined oxidative phosphorylation defect type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254920	"" []	6149676	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254920	"" []	6149677	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254920	"" []	6632746	\N	\N	EFO	9	EFO	disposition	Combined oxidative phosphorylation defect type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254920	"" []	6925647	\N	\N	EFO	10	EFO	material property	Combined oxidative phosphorylation defect type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254920	"" []	7099095	\N	\N	EFO	11	EFO	experimental factor	Combined oxidative phosphorylation defect type 2
Orphanet:254925	\N	\N	"" []	Orphanet:254925	"" []	75158	\N	\N	EFO	0	EFO	Combined oxidative phosphorylation defect type 4	Combined oxidative phosphorylation defect type 4
Orphanet:35696	Orphanet:254925	\N	"" []	Orphanet:254925	"" []	217566	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Combined oxidative phosphorylation defect type 4
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254925	"" []	572359	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Combined oxidative phosphorylation defect type 4
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254925	"" []	1154762	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Combined oxidative phosphorylation defect type 4
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254925	"" []	2037494	\N	\N	EFO	4	EFO	Mitochondrial disease	Combined oxidative phosphorylation defect type 4
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254925	"" []	3187827	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Combined oxidative phosphorylation defect type 4
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254925	"" []	3187828	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Combined oxidative phosphorylation defect type 4
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254925	"" []	4394964	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Combined oxidative phosphorylation defect type 4
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254925	"" []	4394965	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Combined oxidative phosphorylation defect type 4
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254925	"" []	5413018	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 4
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254925	"" []	5413019	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 4
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254925	"" []	5413020	\N	\N	EFO	7	EFO	metabolic disease	Combined oxidative phosphorylation defect type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254925	"" []	6149678	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 4
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254925	"" []	6149679	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254925	"" []	6632747	\N	\N	EFO	9	EFO	disposition	Combined oxidative phosphorylation defect type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254925	"" []	6925648	\N	\N	EFO	10	EFO	material property	Combined oxidative phosphorylation defect type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254925	"" []	7099096	\N	\N	EFO	11	EFO	experimental factor	Combined oxidative phosphorylation defect type 4
Orphanet:254930	\N	\N	"" []	Orphanet:254930	"" []	75159	\N	\N	EFO	0	EFO	Combined oxidative phosphorylation defect type 7	Combined oxidative phosphorylation defect type 7
Orphanet:35696	Orphanet:254930	\N	"" []	Orphanet:254930	"" []	217567	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Combined oxidative phosphorylation defect type 7
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:254930	"" []	572360	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Combined oxidative phosphorylation defect type 7
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:254930	"" []	1154763	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Combined oxidative phosphorylation defect type 7
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:254930	"" []	2037495	\N	\N	EFO	4	EFO	Mitochondrial disease	Combined oxidative phosphorylation defect type 7
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:254930	"" []	3187829	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Combined oxidative phosphorylation defect type 7
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:254930	"" []	3187830	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Combined oxidative phosphorylation defect type 7
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:254930	"" []	4394966	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Combined oxidative phosphorylation defect type 7
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:254930	"" []	4394967	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Combined oxidative phosphorylation defect type 7
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254930	"" []	5413021	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 7
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:254930	"" []	5413022	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 7
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:254930	"" []	5413023	\N	\N	EFO	7	EFO	metabolic disease	Combined oxidative phosphorylation defect type 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254930	"" []	6149680	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 7
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:254930	"" []	6149681	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:254930	"" []	6632748	\N	\N	EFO	9	EFO	disposition	Combined oxidative phosphorylation defect type 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:254930	"" []	6925649	\N	\N	EFO	10	EFO	material property	Combined oxidative phosphorylation defect type 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:254930	"" []	7099097	\N	\N	EFO	11	EFO	experimental factor	Combined oxidative phosphorylation defect type 7
Orphanet:255	\N	\N	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	75160	\N	\N	EFO	0	EFO	Dopa-responsive dystonia	Dopa-responsive dystonia
Orphanet:391711	Orphanet:255	\N	"" []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	217568	\N	\N	EFO	1	EFO	Persistent combined dystonia	Dopa-responsive dystonia
Orphanet:68385	Orphanet:255	\N	"" []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	217569	\N	\N	EFO	1	EFO	Neurometabolic disease	Dopa-responsive dystonia
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	572361	\N	\N	EFO	2	EFO	Combined dystonia	Dopa-responsive dystonia
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	572362	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Dopa-responsive dystonia
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	1154764	\N	\N	EFO	3	EFO	Rare genetic dystonia	Dopa-responsive dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	4394969	\N	\N	EFO	6	EFO	genetic disorder	Dopa-responsive dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	2037496	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Dopa-responsive dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	5028426	\N	\N	EFO	7	EFO	disease	Dopa-responsive dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	3187831	\N	\N	EFO	5	EFO	movement disorder	Dopa-responsive dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	3187832	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Dopa-responsive dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	5817615	\N	\N	EFO	8	EFO	disposition	Dopa-responsive dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	4394968	\N	\N	EFO	6	EFO	nervous system disease	Dopa-responsive dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	6410012	\N	\N	EFO	9	EFO	material property	Dopa-responsive dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	5413024	\N	\N	EFO	7	EFO	disease	Dopa-responsive dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:255	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	6807860	\N	\N	EFO	10	EFO	experimental factor	Dopa-responsive dystonia
Orphanet:2551	\N	\N	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	75161	\N	\N	EFO	0	EFO	Microspherophakia - metaphyseal dysplasia	Microspherophakia - metaphyseal dysplasia
Orphanet:108987	Orphanet:2551	\N	"" []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	217570	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Microspherophakia - metaphyseal dysplasia
Orphanet:98652	Orphanet:2551	\N	"" []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	217571	\N	\N	EFO	1	EFO	Lens size anomaly	Microspherophakia - metaphyseal dysplasia
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	572363	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Microspherophakia - metaphyseal dysplasia
Orphanet:183607	Orphanet:98652	\N	"" []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	572364	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Microspherophakia - metaphyseal dysplasia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	1154766	\N	\N	EFO	3	EFO	Rare genetic eye disease	Microspherophakia - metaphyseal dysplasia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	1154767	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microspherophakia - metaphyseal dysplasia
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	1154768	\N	\N	EFO	3	EFO	Rare genetic eye disease	Microspherophakia - metaphyseal dysplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	2037498	\N	\N	EFO	4	EFO	genetic disorder	Microspherophakia - metaphyseal dysplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	2037499	\N	\N	EFO	4	EFO	eye disease	Microspherophakia - metaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	2037500	\N	\N	EFO	4	EFO	genetic disorder	Microspherophakia - metaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	3187834	\N	\N	EFO	5	EFO	disease	Microspherophakia - metaphyseal dysplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	3187835	\N	\N	EFO	5	EFO	disease	Microspherophakia - metaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	4394971	\N	\N	EFO	6	EFO	disposition	Microspherophakia - metaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	5413026	\N	\N	EFO	7	EFO	material property	Microspherophakia - metaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2551	"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." []	6149682	\N	\N	EFO	8	EFO	experimental factor	Microspherophakia - metaphyseal dysplasia
Orphanet:255117	\N	\N	"" []	Orphanet:255117	"" []	75162	\N	\N	EFO	0	EFO	Autosomal dominant optic atrophy and late-onset deafness	Autosomal dominant optic atrophy and late-onset deafness
Orphanet:254822	Orphanet:255117	\N	"" []	Orphanet:255117	"" []	217572	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder with no known mechanism	Autosomal dominant optic atrophy and late-onset deafness
Orphanet:2443	Orphanet:254822	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:255117	"" []	572365	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal dominant optic atrophy and late-onset deafness
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:255117	"" []	1154769	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal dominant optic atrophy and late-onset deafness
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:255117	"" []	2037501	\N	\N	EFO	4	EFO	Mitochondrial disease	Autosomal dominant optic atrophy and late-onset deafness
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:255117	"" []	3187836	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Autosomal dominant optic atrophy and late-onset deafness
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:255117	"" []	3187837	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Autosomal dominant optic atrophy and late-onset deafness
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:255117	"" []	4394972	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant optic atrophy and late-onset deafness
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:255117	"" []	4394973	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Autosomal dominant optic atrophy and late-onset deafness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255117	"" []	5413027	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant optic atrophy and late-onset deafness
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255117	"" []	5413028	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant optic atrophy and late-onset deafness
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:255117	"" []	5413029	\N	\N	EFO	7	EFO	metabolic disease	Autosomal dominant optic atrophy and late-onset deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255117	"" []	6149683	\N	\N	EFO	8	EFO	disease	Autosomal dominant optic atrophy and late-onset deafness
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255117	"" []	6149684	\N	\N	EFO	8	EFO	disease	Autosomal dominant optic atrophy and late-onset deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:255117	"" []	6632749	\N	\N	EFO	9	EFO	disposition	Autosomal dominant optic atrophy and late-onset deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:255117	"" []	6925650	\N	\N	EFO	10	EFO	material property	Autosomal dominant optic atrophy and late-onset deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:255117	"" []	7099098	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant optic atrophy and late-onset deafness
Orphanet:255132	\N	\N	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	75163	\N	\N	EFO	0	EFO	Adult-onset autosomal recessive sideroblastic anemia	Adult-onset autosomal recessive sideroblastic anemia
Orphanet:254830	Orphanet:255132	\N	"" []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	217573	\N	\N	EFO	1	EFO	Mitochondrial substrate carrier disorder	Adult-onset autosomal recessive sideroblastic anemia
Orphanet:98362	Orphanet:255132	\N	"" []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	217574	\N	\N	EFO	1	EFO	Constitutional sideroblastic anemia	Adult-onset autosomal recessive sideroblastic anemia
Orphanet:254827	Orphanet:254830	\N	"" []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	572366	\N	\N	EFO	2	EFO	Mitochondrial membrane transport disorder	Adult-onset autosomal recessive sideroblastic anemia
Orphanet:183651	Orphanet:98362	\N	"" []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	572367	\N	\N	EFO	2	EFO	Rare constitutional anemia	Adult-onset autosomal recessive sideroblastic anemia
Orphanet:68380	Orphanet:254827	\N	"" []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	1154770	\N	\N	EFO	3	EFO	Mitochondrial disease	Adult-onset autosomal recessive sideroblastic anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	1154771	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Adult-onset autosomal recessive sideroblastic anemia
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	2037502	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Adult-onset autosomal recessive sideroblastic anemia
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	2037503	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Adult-onset autosomal recessive sideroblastic anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	2037504	\N	\N	EFO	4	EFO	genetic disorder	Adult-onset autosomal recessive sideroblastic anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	2037505	\N	\N	EFO	4	EFO	hematological system disease	Adult-onset autosomal recessive sideroblastic anemia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	3187838	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Adult-onset autosomal recessive sideroblastic anemia
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	3187839	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Adult-onset autosomal recessive sideroblastic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	5413030	\N	\N	EFO	7	EFO	disease	Adult-onset autosomal recessive sideroblastic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	3187841	\N	\N	EFO	5	EFO	disease	Adult-onset autosomal recessive sideroblastic anemia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	4394974	\N	\N	EFO	6	EFO	genetic disorder	Adult-onset autosomal recessive sideroblastic anemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	4394975	\N	\N	EFO	6	EFO	genetic disorder	Adult-onset autosomal recessive sideroblastic anemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	4394976	\N	\N	EFO	6	EFO	metabolic disease	Adult-onset autosomal recessive sideroblastic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	5877105	\N	\N	EFO	8	EFO	disposition	Adult-onset autosomal recessive sideroblastic anemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	5413031	\N	\N	EFO	7	EFO	disease	Adult-onset autosomal recessive sideroblastic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	6470330	\N	\N	EFO	9	EFO	material property	Adult-onset autosomal recessive sideroblastic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:255132	") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." []	6848469	\N	\N	EFO	10	EFO	experimental factor	Adult-onset autosomal recessive sideroblastic anemia
Orphanet:255138	\N	\N	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	75164	\N	\N	EFO	0	EFO	Pyruvate dehydrogenase E1-beta deficiency	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:765	Orphanet:255138	\N	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	217575	\N	\N	EFO	1	EFO	Pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:182076	Orphanet:765	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	572368	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:225703	Orphanet:765	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	572369	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:254746	Orphanet:765	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	572370	\N	\N	EFO	2	EFO	Pyruvate metabolism disorder	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:68380	Orphanet:765	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	572371	\N	\N	EFO	2	EFO	Mitochondrial disease	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	1154772	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	1154773	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:79200	Orphanet:254746	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	1154774	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	1154775	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	1154776	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	2037506	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	2037507	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	2037508	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	2037509	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	3187842	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	3187843	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Pyruvate dehydrogenase E1-beta deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	3187844	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate dehydrogenase E1-beta deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	3187845	\N	\N	EFO	5	EFO	metabolic disease	Pyruvate dehydrogenase E1-beta deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	3187846	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	4394978	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	4394979	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase E1-beta deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	6149686	\N	\N	EFO	8	EFO	disease	Pyruvate dehydrogenase E1-beta deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	4394981	\N	\N	EFO	6	EFO	disease	Pyruvate dehydrogenase E1-beta deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	5413033	\N	\N	EFO	7	EFO	genetic disorder	Pyruvate dehydrogenase E1-beta deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	6470331	\N	\N	EFO	9	EFO	disposition	Pyruvate dehydrogenase E1-beta deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	6848470	\N	\N	EFO	10	EFO	material property	Pyruvate dehydrogenase E1-beta deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:255138	"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." []	7068444	\N	\N	EFO	11	EFO	experimental factor	Pyruvate dehydrogenase E1-beta deficiency
Orphanet:255182	\N	\N	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	75165	\N	\N	EFO	0	EFO	Pyruvate dehydrogenase E3-binding protein deficiency	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:765	Orphanet:255182	\N	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	217576	\N	\N	EFO	1	EFO	Pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:182076	Orphanet:765	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	572372	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:225703	Orphanet:765	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	572373	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:254746	Orphanet:765	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	572374	\N	\N	EFO	2	EFO	Pyruvate metabolism disorder	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:68380	Orphanet:765	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	572375	\N	\N	EFO	2	EFO	Mitochondrial disease	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	1154777	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	1154778	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:79200	Orphanet:254746	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	1154779	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	1154780	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	1154781	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	2037510	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	2037511	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	2037512	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	2037513	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	3187847	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	3187848	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Pyruvate dehydrogenase E3-binding protein deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	3187849	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate dehydrogenase E3-binding protein deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	3187850	\N	\N	EFO	5	EFO	metabolic disease	Pyruvate dehydrogenase E3-binding protein deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	3187851	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	4394982	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	4394983	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase E3-binding protein deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	6149688	\N	\N	EFO	8	EFO	disease	Pyruvate dehydrogenase E3-binding protein deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	4394985	\N	\N	EFO	6	EFO	disease	Pyruvate dehydrogenase E3-binding protein deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	5413035	\N	\N	EFO	7	EFO	genetic disorder	Pyruvate dehydrogenase E3-binding protein deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	6470332	\N	\N	EFO	9	EFO	disposition	Pyruvate dehydrogenase E3-binding protein deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	6848471	\N	\N	EFO	10	EFO	material property	Pyruvate dehydrogenase E3-binding protein deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:255182	"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." []	7068445	\N	\N	EFO	11	EFO	experimental factor	Pyruvate dehydrogenase E3-binding protein deficiency
Orphanet:255210	\N	\N	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	75166	\N	\N	EFO	0	EFO	Maternally-inherited Leigh syndrome	Maternally-inherited Leigh syndrome
Orphanet:254776	Orphanet:255210	\N	"" []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	217577	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Maternally-inherited Leigh syndrome
Orphanet:68385	Orphanet:255210	\N	"" []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	217578	\N	\N	EFO	1	EFO	Neurometabolic disease	Maternally-inherited Leigh syndrome
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	572376	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Maternally-inherited Leigh syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	572377	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Maternally-inherited Leigh syndrome
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	1154782	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Maternally-inherited Leigh syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	1154783	\N	\N	EFO	3	EFO	genetic disorder	Maternally-inherited Leigh syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	2037514	\N	\N	EFO	4	EFO	Mitochondrial disease	Maternally-inherited Leigh syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	6149690	\N	\N	EFO	8	EFO	disease	Maternally-inherited Leigh syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	3187852	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Maternally-inherited Leigh syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	3187853	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Maternally-inherited Leigh syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	6378888	\N	\N	EFO	9	EFO	disposition	Maternally-inherited Leigh syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	4394986	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Maternally-inherited Leigh syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	4394987	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Maternally-inherited Leigh syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	6778682	\N	\N	EFO	10	EFO	material property	Maternally-inherited Leigh syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	5413037	\N	\N	EFO	7	EFO	genetic disorder	Maternally-inherited Leigh syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	5413038	\N	\N	EFO	7	EFO	genetic disorder	Maternally-inherited Leigh syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	5413039	\N	\N	EFO	7	EFO	metabolic disease	Maternally-inherited Leigh syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	7029885	\N	\N	EFO	11	EFO	experimental factor	Maternally-inherited Leigh syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255210	"Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." []	6149691	\N	\N	EFO	8	EFO	disease	Maternally-inherited Leigh syndrome
Orphanet:255229	\N	\N	"" []	Orphanet:255229	"" []	75167	\N	\N	EFO	0	EFO	Navajo neurohepatopathy	Navajo neurohepatopathy
Orphanet:254871	Orphanet:255229	\N	"" []	Orphanet:255229	"" []	217579	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome, hepatocerebral form	Navajo neurohepatopathy
Orphanet:35698	Orphanet:254871	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:255229	"" []	572378	\N	\N	EFO	2	EFO	Mitochondrial DNA depletion syndrome	Navajo neurohepatopathy
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:255229	"" []	1154784	\N	\N	EFO	3	EFO	Metabolic disease with intestinal involvement	Navajo neurohepatopathy
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:255229	"" []	1154785	\N	\N	EFO	3	EFO	Mitochondrial myopathy	Navajo neurohepatopathy
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:255229	"" []	1154786	\N	\N	EFO	3	EFO	Mitochondrial DNA maintenance syndrome	Navajo neurohepatopathy
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:255229	"" []	1154787	\N	\N	EFO	3	EFO	Mitochondrial disease with eye involvement	Navajo neurohepatopathy
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:255229	"" []	2037516	\N	\N	EFO	4	EFO	Genetic intestinal disease	Navajo neurohepatopathy
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:255229	"" []	2037517	\N	\N	EFO	4	EFO	Muscular lipidosis	Navajo neurohepatopathy
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:255229	"" []	2037518	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Navajo neurohepatopathy
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:255229	"" []	2037519	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	Navajo neurohepatopathy
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:255229	"" []	3187855	\N	\N	EFO	5	EFO	digestive system disease	Navajo neurohepatopathy
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:255229	"" []	3187856	\N	\N	EFO	5	EFO	Rare genetic gastroenterological disease	Navajo neurohepatopathy
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:255229	"" []	3187857	\N	\N	EFO	5	EFO	Metabolic myopathy	Navajo neurohepatopathy
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:255229	"" []	3187858	\N	\N	EFO	5	EFO	Mitochondrial oxidative phosphorylation disorder	Navajo neurohepatopathy
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:255229	"" []	3187859	\N	\N	EFO	5	EFO	Rare genetic eye disease	Navajo neurohepatopathy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255229	"" []	4394989	\N	\N	EFO	6	EFO	disease	Navajo neurohepatopathy
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255229	"" []	4394990	\N	\N	EFO	6	EFO	genetic disorder	Navajo neurohepatopathy
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:255229	"" []	4394991	\N	\N	EFO	6	EFO	Non-dystrophic myopathy	Navajo neurohepatopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:255229	"" []	4394992	\N	\N	EFO	6	EFO	Mitochondrial disease	Navajo neurohepatopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255229	"" []	4394993	\N	\N	EFO	6	EFO	genetic disorder	Navajo neurohepatopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:255229	"" []	4394994	\N	\N	EFO	6	EFO	eye disease	Navajo neurohepatopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:255229	"" []	7181768	\N	\N	EFO	12	EFO	disposition	Navajo neurohepatopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255229	"" []	7099100	\N	\N	EFO	11	EFO	disease	Navajo neurohepatopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:255229	"" []	5413043	\N	\N	EFO	7	EFO	Genetic skeletal muscle disease	Navajo neurohepatopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:255229	"" []	5413044	\N	\N	EFO	7	EFO	Developmental anomaly of metabolic origin	Navajo neurohepatopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:255229	"" []	5413045	\N	\N	EFO	7	EFO	Disorder of energy metabolism	Navajo neurohepatopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255229	"" []	5413046	\N	\N	EFO	7	EFO	disease	Navajo neurohepatopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:255229	"" []	7275676	\N	\N	EFO	13	EFO	material property	Navajo neurohepatopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:255229	"" []	6149694	\N	\N	EFO	8	EFO	Genetic neuromuscular disease	Navajo neurohepatopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:255229	"" []	6149695	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Navajo neurohepatopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:255229	"" []	6149696	\N	\N	EFO	8	EFO	Inborn errors of metabolism	Navajo neurohepatopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:255229	"" []	7349874	\N	\N	EFO	14	EFO	experimental factor	Navajo neurohepatopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:255229	"" []	6632753	\N	\N	EFO	9	EFO	muscular disease	Navajo neurohepatopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:255229	"" []	6632754	\N	\N	EFO	9	EFO	Rare genetic neurological disorder	Navajo neurohepatopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255229	"" []	6632755	\N	\N	EFO	9	EFO	genetic disorder	Navajo neurohepatopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255229	"" []	6632756	\N	\N	EFO	9	EFO	genetic disorder	Navajo neurohepatopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:255229	"" []	6632757	\N	\N	EFO	9	EFO	metabolic disease	Navajo neurohepatopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:255229	"" []	6925651	\N	\N	EFO	10	EFO	skeletal system disease	Navajo neurohepatopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255229	"" []	6925652	\N	\N	EFO	10	EFO	genetic disorder	Navajo neurohepatopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255229	"" []	6925654	\N	\N	EFO	10	EFO	disease	Navajo neurohepatopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255229	"" []	7099099	\N	\N	EFO	11	EFO	disease	Navajo neurohepatopathy
Orphanet:255235	\N	\N	"" []	Orphanet:255235	"" []	75168	\N	\N	EFO	0	EFO	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:254803	Orphanet:255235	\N	"" []	Orphanet:255235	"" []	217580	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome, encephalomyopathic form	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:35698	Orphanet:254803	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:255235	"" []	572379	\N	\N	EFO	2	EFO	Mitochondrial DNA depletion syndrome	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:68385	Orphanet:254803	\N	"" []	Orphanet:255235	"" []	572380	\N	\N	EFO	2	EFO	Neurometabolic disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:255235	"" []	1154788	\N	\N	EFO	3	EFO	Metabolic disease with intestinal involvement	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:255235	"" []	1154789	\N	\N	EFO	3	EFO	Mitochondrial myopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:255235	"" []	1154790	\N	\N	EFO	3	EFO	Mitochondrial DNA maintenance syndrome	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:255235	"" []	1154791	\N	\N	EFO	3	EFO	Mitochondrial disease with eye involvement	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:255235	"" []	1154792	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:255235	"" []	2037520	\N	\N	EFO	4	EFO	Genetic intestinal disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:255235	"" []	2037521	\N	\N	EFO	4	EFO	Muscular lipidosis	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:255235	"" []	2037522	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:255235	"" []	2037523	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255235	"" []	6925656	\N	\N	EFO	10	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:255235	"" []	3187860	\N	\N	EFO	5	EFO	digestive system disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:255235	"" []	3187861	\N	\N	EFO	5	EFO	Rare genetic gastroenterological disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:255235	"" []	3187862	\N	\N	EFO	5	EFO	Metabolic myopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:255235	"" []	3187863	\N	\N	EFO	5	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:255235	"" []	3187864	\N	\N	EFO	5	EFO	Rare genetic eye disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255235	"" []	7008643	\N	\N	EFO	11	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255235	"" []	4394995	\N	\N	EFO	6	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255235	"" []	4394996	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:255235	"" []	4394997	\N	\N	EFO	6	EFO	Non-dystrophic myopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:255235	"" []	4394998	\N	\N	EFO	6	EFO	Mitochondrial disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255235	"" []	4394999	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:255235	"" []	4395000	\N	\N	EFO	6	EFO	eye disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:255235	"" []	7167535	\N	\N	EFO	12	EFO	disposition	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:255235	"" []	5413049	\N	\N	EFO	7	EFO	Genetic skeletal muscle disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:255235	"" []	5413050	\N	\N	EFO	7	EFO	Developmental anomaly of metabolic origin	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:255235	"" []	5413051	\N	\N	EFO	7	EFO	Disorder of energy metabolism	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255235	"" []	5413052	\N	\N	EFO	7	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:255235	"" []	7272439	\N	\N	EFO	13	EFO	material property	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:255235	"" []	6149697	\N	\N	EFO	8	EFO	Genetic neuromuscular disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:255235	"" []	6149698	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:255235	"" []	6149699	\N	\N	EFO	8	EFO	Inborn errors of metabolism	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:255235	"" []	7348680	\N	\N	EFO	14	EFO	experimental factor	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:255235	"" []	6632758	\N	\N	EFO	9	EFO	muscular disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:255235	"" []	6632759	\N	\N	EFO	9	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255235	"" []	6632760	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255235	"" []	6632761	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:255235	"" []	6632762	\N	\N	EFO	9	EFO	metabolic disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:255235	"" []	6925655	\N	\N	EFO	10	EFO	skeletal system disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255235	"" []	6925658	\N	\N	EFO	10	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255235	"" []	7099101	\N	\N	EFO	11	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Orphanet:255241	\N	\N	"" []	Orphanet:255241	"" []	75169	\N	\N	EFO	0	EFO	Leigh syndrome with leukodystrophy	Leigh syndrome with leukodystrophy
Orphanet:506	Orphanet:255241	\N	"" []	Orphanet:255241	"" []	217581	\N	\N	EFO	1	EFO	Leigh syndrome	Leigh syndrome with leukodystrophy
Orphanet:225703	Orphanet:506	\N	"" []	Orphanet:255241	"" []	572381	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Leigh syndrome with leukodystrophy
Orphanet:2443	Orphanet:506	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:255241	"" []	572382	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Leigh syndrome with leukodystrophy
Orphanet:68385	Orphanet:506	\N	"" []	Orphanet:255241	"" []	572383	\N	\N	EFO	2	EFO	Neurometabolic disease	Leigh syndrome with leukodystrophy
Orphanet:98666	Orphanet:506	\N	"" []	Orphanet:255241	"" []	572384	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Leigh syndrome with leukodystrophy
Orphanet:98683	Orphanet:506	\N	"" []	Orphanet:255241	"" []	572385	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Leigh syndrome with leukodystrophy
Orphanet:98687	Orphanet:506	\N	"" []	Orphanet:255241	"" []	572386	\N	\N	EFO	2	EFO	Supranuclear oculomotor palsy	Leigh syndrome with leukodystrophy
Orphanet:98695	Orphanet:506	\N	"" []	Orphanet:255241	"" []	572387	\N	\N	EFO	2	EFO	Mitochondrial disease with eye involvement	Leigh syndrome with leukodystrophy
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:255241	"" []	1154793	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Leigh syndrome with leukodystrophy
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:255241	"" []	1154794	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Leigh syndrome with leukodystrophy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:255241	"" []	1154795	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Leigh syndrome with leukodystrophy
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:255241	"" []	1154796	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Leigh syndrome with leukodystrophy
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:255241	"" []	1154797	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Leigh syndrome with leukodystrophy
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:255241	"" []	1154798	\N	\N	EFO	3	EFO	Oculomotor palsy	Leigh syndrome with leukodystrophy
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:255241	"" []	1154799	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Leigh syndrome with leukodystrophy
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:255241	"" []	2037525	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Leigh syndrome with leukodystrophy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:255241	"" []	2037526	\N	\N	EFO	4	EFO	Mitochondrial disease	Leigh syndrome with leukodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255241	"" []	5413054	\N	\N	EFO	7	EFO	genetic disorder	Leigh syndrome with leukodystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:255241	"" []	2037528	\N	\N	EFO	4	EFO	Retinal dystrophy	Leigh syndrome with leukodystrophy
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:255241	"" []	2037529	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Leigh syndrome with leukodystrophy
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:255241	"" []	2037530	\N	\N	EFO	4	EFO	palsy	Leigh syndrome with leukodystrophy
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:255241	"" []	2037531	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Leigh syndrome with leukodystrophy
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:255241	"" []	2037532	\N	\N	EFO	4	EFO	Rare genetic eye disease	Leigh syndrome with leukodystrophy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:255241	"" []	3187866	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Leigh syndrome with leukodystrophy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:255241	"" []	3187867	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Leigh syndrome with leukodystrophy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:255241	"" []	3187868	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Leigh syndrome with leukodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255241	"" []	5817616	\N	\N	EFO	8	EFO	disease	Leigh syndrome with leukodystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:255241	"" []	3187870	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Leigh syndrome with leukodystrophy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:255241	"" []	3187871	\N	\N	EFO	5	EFO	Rare genetic eye disease	Leigh syndrome with leukodystrophy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:255241	"" []	3187872	\N	\N	EFO	5	EFO	nervous system disease	Leigh syndrome with leukodystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255241	"" []	5413059	\N	\N	EFO	7	EFO	genetic disorder	Leigh syndrome with leukodystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:255241	"" []	5413060	\N	\N	EFO	7	EFO	eye disease	Leigh syndrome with leukodystrophy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:255241	"" []	4395002	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Leigh syndrome with leukodystrophy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:255241	"" []	4395003	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Leigh syndrome with leukodystrophy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:255241	"" []	4395004	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Leigh syndrome with leukodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:255241	"" []	6410013	\N	\N	EFO	9	EFO	disposition	Leigh syndrome with leukodystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:255241	"" []	4395006	\N	\N	EFO	6	EFO	Rare genetic eye disease	Leigh syndrome with leukodystrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255241	"" []	4395009	\N	\N	EFO	6	EFO	disease	Leigh syndrome with leukodystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255241	"" []	5877108	\N	\N	EFO	8	EFO	disease	Leigh syndrome with leukodystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255241	"" []	5413055	\N	\N	EFO	7	EFO	genetic disorder	Leigh syndrome with leukodystrophy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255241	"" []	5413056	\N	\N	EFO	7	EFO	genetic disorder	Leigh syndrome with leukodystrophy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:255241	"" []	5413057	\N	\N	EFO	7	EFO	metabolic disease	Leigh syndrome with leukodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:255241	"" []	6807861	\N	\N	EFO	10	EFO	material property	Leigh syndrome with leukodystrophy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255241	"" []	6149701	\N	\N	EFO	8	EFO	disease	Leigh syndrome with leukodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:255241	"" []	7048632	\N	\N	EFO	11	EFO	experimental factor	Leigh syndrome with leukodystrophy
Orphanet:255249	\N	\N	"" []	Orphanet:255249	"" []	75170	\N	\N	EFO	0	EFO	Leigh syndrome with nephrotic syndrome	Leigh syndrome with nephrotic syndrome
Orphanet:506	Orphanet:255249	\N	"" []	Orphanet:255249	"" []	217582	\N	\N	EFO	1	EFO	Leigh syndrome	Leigh syndrome with nephrotic syndrome
Orphanet:225703	Orphanet:506	\N	"" []	Orphanet:255249	"" []	572388	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Leigh syndrome with nephrotic syndrome
Orphanet:2443	Orphanet:506	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:255249	"" []	572389	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Leigh syndrome with nephrotic syndrome
Orphanet:68385	Orphanet:506	\N	"" []	Orphanet:255249	"" []	572390	\N	\N	EFO	2	EFO	Neurometabolic disease	Leigh syndrome with nephrotic syndrome
Orphanet:98666	Orphanet:506	\N	"" []	Orphanet:255249	"" []	572391	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Leigh syndrome with nephrotic syndrome
Orphanet:98683	Orphanet:506	\N	"" []	Orphanet:255249	"" []	572392	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Leigh syndrome with nephrotic syndrome
Orphanet:98687	Orphanet:506	\N	"" []	Orphanet:255249	"" []	572393	\N	\N	EFO	2	EFO	Supranuclear oculomotor palsy	Leigh syndrome with nephrotic syndrome
Orphanet:98695	Orphanet:506	\N	"" []	Orphanet:255249	"" []	572394	\N	\N	EFO	2	EFO	Mitochondrial disease with eye involvement	Leigh syndrome with nephrotic syndrome
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:255249	"" []	1154800	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Leigh syndrome with nephrotic syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:255249	"" []	1154801	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Leigh syndrome with nephrotic syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:255249	"" []	1154802	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Leigh syndrome with nephrotic syndrome
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:255249	"" []	1154803	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Leigh syndrome with nephrotic syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:255249	"" []	1154804	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Leigh syndrome with nephrotic syndrome
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:255249	"" []	1154805	\N	\N	EFO	3	EFO	Oculomotor palsy	Leigh syndrome with nephrotic syndrome
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:255249	"" []	1154806	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Leigh syndrome with nephrotic syndrome
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:255249	"" []	2037533	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Leigh syndrome with nephrotic syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:255249	"" []	2037534	\N	\N	EFO	4	EFO	Mitochondrial disease	Leigh syndrome with nephrotic syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255249	"" []	5413061	\N	\N	EFO	7	EFO	genetic disorder	Leigh syndrome with nephrotic syndrome
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:255249	"" []	2037536	\N	\N	EFO	4	EFO	Retinal dystrophy	Leigh syndrome with nephrotic syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:255249	"" []	2037537	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Leigh syndrome with nephrotic syndrome
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:255249	"" []	2037538	\N	\N	EFO	4	EFO	palsy	Leigh syndrome with nephrotic syndrome
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:255249	"" []	2037539	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Leigh syndrome with nephrotic syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:255249	"" []	2037540	\N	\N	EFO	4	EFO	Rare genetic eye disease	Leigh syndrome with nephrotic syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:255249	"" []	3187875	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Leigh syndrome with nephrotic syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:255249	"" []	3187876	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Leigh syndrome with nephrotic syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:255249	"" []	3187877	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Leigh syndrome with nephrotic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255249	"" []	5817617	\N	\N	EFO	8	EFO	disease	Leigh syndrome with nephrotic syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:255249	"" []	3187879	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Leigh syndrome with nephrotic syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:255249	"" []	3187880	\N	\N	EFO	5	EFO	Rare genetic eye disease	Leigh syndrome with nephrotic syndrome
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:255249	"" []	3187881	\N	\N	EFO	5	EFO	nervous system disease	Leigh syndrome with nephrotic syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255249	"" []	5413066	\N	\N	EFO	7	EFO	genetic disorder	Leigh syndrome with nephrotic syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:255249	"" []	5413067	\N	\N	EFO	7	EFO	eye disease	Leigh syndrome with nephrotic syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:255249	"" []	4395012	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Leigh syndrome with nephrotic syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:255249	"" []	4395013	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Leigh syndrome with nephrotic syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:255249	"" []	4395014	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Leigh syndrome with nephrotic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:255249	"" []	6410014	\N	\N	EFO	9	EFO	disposition	Leigh syndrome with nephrotic syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:255249	"" []	4395016	\N	\N	EFO	6	EFO	Rare genetic eye disease	Leigh syndrome with nephrotic syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255249	"" []	4395019	\N	\N	EFO	6	EFO	disease	Leigh syndrome with nephrotic syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255249	"" []	5877110	\N	\N	EFO	8	EFO	disease	Leigh syndrome with nephrotic syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255249	"" []	5413062	\N	\N	EFO	7	EFO	genetic disorder	Leigh syndrome with nephrotic syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:255249	"" []	5413063	\N	\N	EFO	7	EFO	genetic disorder	Leigh syndrome with nephrotic syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:255249	"" []	5413064	\N	\N	EFO	7	EFO	metabolic disease	Leigh syndrome with nephrotic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:255249	"" []	6807862	\N	\N	EFO	10	EFO	material property	Leigh syndrome with nephrotic syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:255249	"" []	6149703	\N	\N	EFO	8	EFO	disease	Leigh syndrome with nephrotic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:255249	"" []	7048633	\N	\N	EFO	11	EFO	experimental factor	Leigh syndrome with nephrotic syndrome
Orphanet:2554	\N	\N	"" []	Orphanet:2554	"" []	75171	\N	\N	EFO	0	EFO	Ear-patella-short stature syndrome	Ear-patella-short stature syndrome
Orphanet:183576	Orphanet:2554	\N	"" []	Orphanet:2554	"" []	217583	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Ear-patella-short stature syndrome
Orphanet:324761	Orphanet:2554	\N	"" []	Orphanet:2554	"" []	217584	\N	\N	EFO	1	EFO	Microcephalic primordial dwarfism	Ear-patella-short stature syndrome
Orphanet:330197	Orphanet:2554	\N	"" []	Orphanet:2554	"" []	217585	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Ear-patella-short stature syndrome
Orphanet:93455	Orphanet:2554	\N	"" []	Orphanet:2554	"" []	217586	\N	\N	EFO	1	EFO	Patellar dysostosis	Ear-patella-short stature syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2554	"" []	572395	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ear-patella-short stature syndrome
Orphanet:102283	Orphanet:324761	\N	"" []	Orphanet:2554	"" []	572396	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Ear-patella-short stature syndrome
Orphanet:183763	Orphanet:324761	\N	"" []	Orphanet:2554	"" []	572397	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Ear-patella-short stature syndrome
Orphanet:269528	Orphanet:324761	\N	"" []	Orphanet:2554	"" []	572398	\N	\N	EFO	2	EFO	Syndrome with microcephaly as major feature	Ear-patella-short stature syndrome
Orphanet:93440	Orphanet:324761	\N	"" []	Orphanet:2554	"" []	572399	\N	\N	EFO	2	EFO	Slender bone dysplasia	Ear-patella-short stature syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2554	"" []	572400	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ear-patella-short stature syndrome
Orphanet:404568	Orphanet:93455	\N	"" []	Orphanet:2554	"" []	572401	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Ear-patella-short stature syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2554	"" []	4133690	\N	\N	EFO	6	EFO	genetic disorder	Ear-patella-short stature syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2554	"" []	1154808	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ear-patella-short stature syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2554	"" []	1154809	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Ear-patella-short stature syndrome
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:2554	"" []	1154810	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Ear-patella-short stature syndrome
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:2554	"" []	1154811	\N	\N	EFO	3	EFO	Primary bone dysplasia	Ear-patella-short stature syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2554	"" []	2037542	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ear-patella-short stature syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2554	"" []	1154813	\N	\N	EFO	3	EFO	Rare genetic bone disease	Ear-patella-short stature syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2554	"" []	1154814	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Ear-patella-short stature syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2554	"" []	5028427	\N	\N	EFO	7	EFO	disease	Ear-patella-short stature syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2554	"" []	2037543	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Ear-patella-short stature syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2554	"" []	2037544	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Ear-patella-short stature syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2554	"" []	2037545	\N	\N	EFO	4	EFO	Rare genetic bone disease	Ear-patella-short stature syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2554	"" []	2037546	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Ear-patella-short stature syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2554	"" []	3187888	\N	\N	EFO	5	EFO	genetic disorder	Ear-patella-short stature syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2554	"" []	3187889	\N	\N	EFO	5	EFO	bone disease	Ear-patella-short stature syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2554	"" []	3187890	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ear-patella-short stature syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2554	"" []	5817618	\N	\N	EFO	8	EFO	disposition	Ear-patella-short stature syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2554	"" []	4395023	\N	\N	EFO	6	EFO	genetic disorder	Ear-patella-short stature syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2554	"" []	3187886	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ear-patella-short stature syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2554	"" []	3187887	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Ear-patella-short stature syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2554	"" []	4133689	\N	\N	EFO	6	EFO	skeletal system disease	Ear-patella-short stature syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2554	"" []	6410015	\N	\N	EFO	9	EFO	material property	Ear-patella-short stature syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2554	"" []	5182221	\N	\N	EFO	7	EFO	disease	Ear-patella-short stature syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2554	"" []	6807863	\N	\N	EFO	10	EFO	experimental factor	Ear-patella-short stature syndrome
Orphanet:2556	\N	\N	"" []	Orphanet:2556	"" []	75172	\N	\N	EFO	0	EFO	Microphthalmia with linear skin defects syndrome	Microphthalmia with linear skin defects syndrome
Orphanet:108987	Orphanet:2556	\N	"" []	Orphanet:2556	"" []	217587	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Microphthalmia with linear skin defects syndrome
Orphanet:117573	Orphanet:2556	\N	"" []	Orphanet:2556	"" []	217588	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Microphthalmia with linear skin defects syndrome
Orphanet:139027	Orphanet:2556	\N	"" []	Orphanet:2556	"" []	217589	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Microphthalmia with linear skin defects syndrome
Orphanet:183481	Orphanet:2556	\N	"" []	Orphanet:2556	"" []	217590	\N	\N	EFO	1	EFO	Genetic mixed dermis disorder	Microphthalmia with linear skin defects syndrome
Orphanet:202948	Orphanet:2556	\N	"" []	Orphanet:2556	"" []	217591	\N	\N	EFO	1	EFO	Syndromic microphthalmia	Microphthalmia with linear skin defects syndrome
Orphanet:98464	Orphanet:2556	\N	"" []	Orphanet:2556	"" []	217592	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Microphthalmia with linear skin defects syndrome
Orphanet:98638	Orphanet:2556	\N	"" []	Orphanet:2556	"" []	217593	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Microphthalmia with linear skin defects syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2556	"" []	572402	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Microphthalmia with linear skin defects syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:2556	"" []	572403	\N	\N	EFO	2	EFO	Anorectal malformation	Microphthalmia with linear skin defects syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2556	"" []	572404	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia with linear skin defects syndrome
Orphanet:183472	Orphanet:183481	\N	"" []	Orphanet:2556	"" []	572405	\N	\N	EFO	2	EFO	Genetic dermis disorder	Microphthalmia with linear skin defects syndrome
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:2556	"" []	572406	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Microphthalmia with linear skin defects syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2556	"" []	572407	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Microphthalmia with linear skin defects syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:2556	"" []	572408	\N	\N	EFO	2	EFO	Rare genetic eye disease	Microphthalmia with linear skin defects syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2556	"" []	3187895	\N	\N	EFO	5	EFO	Rare genetic eye disease	Microphthalmia with linear skin defects syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2556	"" []	3187896	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia with linear skin defects syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:2556	"" []	1154817	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Microphthalmia with linear skin defects syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2556	"" []	4066900	\N	\N	EFO	6	EFO	genetic disorder	Microphthalmia with linear skin defects syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2556	"" []	1154819	\N	\N	EFO	3	EFO	Rare genetic skin disease	Microphthalmia with linear skin defects syndrome
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:2556	"" []	1154820	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Microphthalmia with linear skin defects syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2556	"" []	1154821	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Microphthalmia with linear skin defects syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2556	"" []	4066898	\N	\N	EFO	6	EFO	genetic disorder	Microphthalmia with linear skin defects syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2556	"" []	4066899	\N	\N	EFO	6	EFO	eye disease	Microphthalmia with linear skin defects syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2556	"" []	2037554	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia with linear skin defects syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2556	"" []	5028428	\N	\N	EFO	7	EFO	disease	Microphthalmia with linear skin defects syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2556	"" []	2037556	\N	\N	EFO	4	EFO	genetic disorder	Microphthalmia with linear skin defects syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2556	"" []	2037557	\N	\N	EFO	4	EFO	skin disease	Microphthalmia with linear skin defects syndrome
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:2556	"" []	2037558	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Microphthalmia with linear skin defects syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2556	"" []	2037559	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microphthalmia with linear skin defects syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2556	"" []	5028429	\N	\N	EFO	7	EFO	disease	Microphthalmia with linear skin defects syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2556	"" []	5817619	\N	\N	EFO	8	EFO	disposition	Microphthalmia with linear skin defects syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2556	"" []	3187894	\N	\N	EFO	5	EFO	disease	Microphthalmia with linear skin defects syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2556	"" []	3187897	\N	\N	EFO	5	EFO	genetic disorder	Microphthalmia with linear skin defects syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2556	"" []	6410016	\N	\N	EFO	9	EFO	material property	Microphthalmia with linear skin defects syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2556	"" []	6807864	\N	\N	EFO	10	EFO	experimental factor	Microphthalmia with linear skin defects syndrome
Orphanet:2557	\N	\N	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	75173	\N	\N	EFO	0	EFO	Mietens syndrome	Mietens syndrome
Orphanet:330197	Orphanet:2557	\N	"" []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	217594	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Mietens syndrome
Orphanet:98628	Orphanet:2557	\N	"" []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	217595	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	Mietens syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	572409	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Mietens syndrome
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	572410	\N	\N	EFO	2	EFO	Corneal dystrophy	Mietens syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	1154824	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mietens syndrome
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	1154825	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mietens syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	2037561	\N	\N	EFO	4	EFO	genetic disorder	Mietens syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	2037562	\N	\N	EFO	4	EFO	genetic disorder	Mietens syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	2037563	\N	\N	EFO	4	EFO	eye disease	Mietens syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	3187898	\N	\N	EFO	5	EFO	disease	Mietens syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	3187899	\N	\N	EFO	5	EFO	disease	Mietens syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	4395026	\N	\N	EFO	6	EFO	disposition	Mietens syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	5413070	\N	\N	EFO	7	EFO	material property	Mietens syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2557	"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." []	6149705	\N	\N	EFO	8	EFO	experimental factor	Mietens syndrome
Orphanet:2558	\N	\N	"" []	Orphanet:2558	"" []	75174	\N	\N	EFO	0	EFO	Mikati-Najjar-Sahli syndrome	Mikati-Najjar-Sahli syndrome
Orphanet:181441	Orphanet:2558	\N	"" []	Orphanet:2558	"" []	217596	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Mikati-Najjar-Sahli syndrome
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:2558	"" []	572411	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Mikati-Najjar-Sahli syndrome
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:2558	"" []	572412	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Mikati-Najjar-Sahli syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2558	"" []	1154826	\N	\N	EFO	3	EFO	genetic disorder	Mikati-Najjar-Sahli syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2558	"" []	1154827	\N	\N	EFO	3	EFO	endocrine system disease	Mikati-Najjar-Sahli syndrome
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:2558	"" []	1154828	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Mikati-Najjar-Sahli syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2558	"" []	5413072	\N	\N	EFO	7	EFO	disease	Mikati-Najjar-Sahli syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2558	"" []	2037565	\N	\N	EFO	4	EFO	disease	Mikati-Najjar-Sahli syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2558	"" []	2037566	\N	\N	EFO	4	EFO	Rare genetic male infertility	Mikati-Najjar-Sahli syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2558	"" []	5817620	\N	\N	EFO	8	EFO	disposition	Mikati-Najjar-Sahli syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2558	"" []	3187901	\N	\N	EFO	5	EFO	Genetic infertility	Mikati-Najjar-Sahli syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2558	"" []	6410017	\N	\N	EFO	9	EFO	material property	Mikati-Najjar-Sahli syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2558	"" []	4395028	\N	\N	EFO	6	EFO	genetic disorder	Mikati-Najjar-Sahli syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2558	"" []	4395029	\N	\N	EFO	6	EFO	reproductive system disease	Mikati-Najjar-Sahli syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2558	"" []	6807865	\N	\N	EFO	10	EFO	experimental factor	Mikati-Najjar-Sahli syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2558	"" []	5413073	\N	\N	EFO	7	EFO	disease	Mikati-Najjar-Sahli syndrome
Orphanet:256	\N	\N	"" []	Orphanet:256	"" []	75175	\N	\N	EFO	0	EFO	Early-onset generalized limb-onset dystonia	Early-onset generalized limb-onset dystonia
Orphanet:376724	Orphanet:256	\N	"" []	Orphanet:256	"" []	217597	\N	\N	EFO	1	EFO	Generalized isolated dystonia	Early-onset generalized limb-onset dystonia
Orphanet:156159	Orphanet:376724	\N	"" []	Orphanet:256	"" []	572413	\N	\N	EFO	2	EFO	Isolated dystonia	Early-onset generalized limb-onset dystonia
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:256	"" []	1154829	\N	\N	EFO	3	EFO	Rare genetic dystonia	Early-onset generalized limb-onset dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:256	"" []	2037567	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Early-onset generalized limb-onset dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:256	"" []	3187902	\N	\N	EFO	5	EFO	movement disorder	Early-onset generalized limb-onset dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:256	"" []	3187903	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Early-onset generalized limb-onset dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:256	"" []	4395030	\N	\N	EFO	6	EFO	nervous system disease	Early-onset generalized limb-onset dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:256	"" []	4395031	\N	\N	EFO	6	EFO	genetic disorder	Early-onset generalized limb-onset dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:256	"" []	5413074	\N	\N	EFO	7	EFO	disease	Early-onset generalized limb-onset dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:256	"" []	5413075	\N	\N	EFO	7	EFO	disease	Early-onset generalized limb-onset dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:256	"" []	6149706	\N	\N	EFO	8	EFO	disposition	Early-onset generalized limb-onset dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:256	"" []	6632763	\N	\N	EFO	9	EFO	material property	Early-onset generalized limb-onset dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:256	"" []	6925659	\N	\N	EFO	10	EFO	experimental factor	Early-onset generalized limb-onset dystonia
Orphanet:2560	\N	\N	"" []	Orphanet:2560	"" []	75176	\N	\N	EFO	0	EFO	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Orphanet:181387	Orphanet:2560	\N	"" []	Orphanet:2560	"" []	217598	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:2560	"" []	572414	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:2560	"" []	1154830	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:2560	"" []	1154831	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:2560	"" []	1154832	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:2560	"" []	2037568	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:2560	"" []	2037569	\N	\N	EFO	4	EFO	Rare genetic male infertility	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:2560	"" []	2037570	\N	\N	EFO	4	EFO	Pituitary deficiency	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2560	"" []	3187904	\N	\N	EFO	5	EFO	genetic disorder	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:2560	"" []	3187905	\N	\N	EFO	5	EFO	reproductive system disease	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2560	"" []	3187906	\N	\N	EFO	5	EFO	Genetic infertility	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:2560	"" []	3187907	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2560	"" []	6149708	\N	\N	EFO	8	EFO	disease	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2560	"" []	5413078	\N	\N	EFO	7	EFO	disease	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2560	"" []	4395034	\N	\N	EFO	6	EFO	genetic disorder	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2560	"" []	4395035	\N	\N	EFO	6	EFO	reproductive system disease	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:2560	"" []	4395036	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2560	"" []	6470338	\N	\N	EFO	9	EFO	disposition	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2560	"" []	5413079	\N	\N	EFO	7	EFO	genetic disorder	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2560	"" []	5413080	\N	\N	EFO	7	EFO	endocrine system disease	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2560	"" []	6848475	\N	\N	EFO	10	EFO	material property	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2560	"" []	6149709	\N	\N	EFO	8	EFO	disease	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2560	"" []	7068446	\N	\N	EFO	11	EFO	experimental factor	Mbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
Orphanet:2561	\N	\N	"" []	Orphanet:2561	"" []	75177	\N	\N	EFO	0	EFO	Ackerman syndrome	Ackerman syndrome
Orphanet:183580	Orphanet:2561	\N	"" []	Orphanet:2561	"" []	217599	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Ackerman syndrome
Orphanet:330206	Orphanet:2561	\N	"" []	Orphanet:2561	"" []	217600	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Ackerman syndrome
Orphanet:79373	Orphanet:2561	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2561	"" []	217601	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ackerman syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2561	"" []	572415	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ackerman syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2561	"" []	572416	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ackerman syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2561	"" []	572417	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ackerman syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2561	"" []	572418	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ackerman syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2561	"" []	2037572	\N	\N	EFO	4	EFO	genetic disorder	Ackerman syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2561	"" []	1154834	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ackerman syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2561	"" []	1154835	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ackerman syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2561	"" []	1154836	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ackerman syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2561	"" []	3000260	\N	\N	EFO	5	EFO	disease	Ackerman syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2561	"" []	2037573	\N	\N	EFO	4	EFO	genetic disorder	Ackerman syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2561	"" []	2037574	\N	\N	EFO	4	EFO	skin disease	Ackerman syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2561	"" []	4133692	\N	\N	EFO	6	EFO	disposition	Ackerman syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2561	"" []	3187909	\N	\N	EFO	5	EFO	disease	Ackerman syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2561	"" []	5182223	\N	\N	EFO	7	EFO	material property	Ackerman syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2561	"" []	5997582	\N	\N	EFO	8	EFO	experimental factor	Ackerman syndrome
Orphanet:2563	\N	\N	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	75178	\N	\N	EFO	0	EFO	MOMO syndrome	MOMO syndrome
Orphanet:240371	Orphanet:2563	\N	"" []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	217602	\N	\N	EFO	1	EFO	Syndromic obesity	MOMO syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	572419	\N	\N	EFO	2	EFO	Genetic obesity	MOMO syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	1154837	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	MOMO syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	1154838	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	MOMO syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	2037575	\N	\N	EFO	4	EFO	genetic disorder	MOMO syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	2037576	\N	\N	EFO	4	EFO	endocrine system disease	MOMO syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	2037577	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	MOMO syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	4395039	\N	\N	EFO	6	EFO	disease	MOMO syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	3187911	\N	\N	EFO	5	EFO	disease	MOMO syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	3187912	\N	\N	EFO	5	EFO	genetic disorder	MOMO syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	5182224	\N	\N	EFO	7	EFO	disposition	MOMO syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	5997583	\N	\N	EFO	8	EFO	material property	MOMO syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2563	"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype." []	6550938	\N	\N	EFO	9	EFO	experimental factor	MOMO syndrome
Orphanet:2564	\N	\N	"" []	Orphanet:2564	"" []	75179	\N	\N	EFO	0	EFO	Tetramelic monodactyly	Tetramelic monodactyly
Orphanet:404574	Orphanet:2564	\N	"" []	Orphanet:2564	"" []	217603	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Tetramelic monodactyly
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2564	"" []	572420	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Tetramelic monodactyly
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2564	"" []	572421	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Tetramelic monodactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2564	"" []	1154839	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Tetramelic monodactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2564	"" []	1154840	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Tetramelic monodactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2564	"" []	2037578	\N	\N	EFO	4	EFO	Rare genetic bone disease	Tetramelic monodactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2564	"" []	2037579	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Tetramelic monodactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2564	"" []	2037580	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Tetramelic monodactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2564	"" []	3187913	\N	\N	EFO	5	EFO	genetic disorder	Tetramelic monodactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2564	"" []	3187914	\N	\N	EFO	5	EFO	bone disease	Tetramelic monodactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2564	"" []	3187915	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Tetramelic monodactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2564	"" []	4395042	\N	\N	EFO	6	EFO	genetic disorder	Tetramelic monodactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2564	"" []	5182225	\N	\N	EFO	7	EFO	disease	Tetramelic monodactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2564	"" []	4395041	\N	\N	EFO	6	EFO	skeletal system disease	Tetramelic monodactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2564	"" []	5997584	\N	\N	EFO	8	EFO	disposition	Tetramelic monodactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2564	"" []	5413084	\N	\N	EFO	7	EFO	disease	Tetramelic monodactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2564	"" []	6550939	\N	\N	EFO	9	EFO	material property	Tetramelic monodactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2564	"" []	6889176	\N	\N	EFO	10	EFO	experimental factor	Tetramelic monodactyly
Orphanet:2565	\N	\N	"" []	Orphanet:2565	"" []	75180	\N	\N	EFO	0	EFO	Mononen-Karnes-Senac syndrome	Mononen-Karnes-Senac syndrome
Orphanet:69028	Orphanet:2565	\N	"" []	Orphanet:2565	"" []	217604	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Mononen-Karnes-Senac syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:2565	"" []	572422	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Mononen-Karnes-Senac syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:2565	"" []	572423	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Mononen-Karnes-Senac syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2565	"" []	1154841	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Mononen-Karnes-Senac syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2565	"" []	1154842	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Mononen-Karnes-Senac syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2565	"" []	2037581	\N	\N	EFO	4	EFO	Rare genetic bone disease	Mononen-Karnes-Senac syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2565	"" []	2037582	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Mononen-Karnes-Senac syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2565	"" []	2037583	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mononen-Karnes-Senac syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2565	"" []	3187917	\N	\N	EFO	5	EFO	genetic disorder	Mononen-Karnes-Senac syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2565	"" []	3187918	\N	\N	EFO	5	EFO	bone disease	Mononen-Karnes-Senac syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2565	"" []	3187919	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mononen-Karnes-Senac syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2565	"" []	4395045	\N	\N	EFO	6	EFO	genetic disorder	Mononen-Karnes-Senac syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2565	"" []	5182226	\N	\N	EFO	7	EFO	disease	Mononen-Karnes-Senac syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2565	"" []	4395044	\N	\N	EFO	6	EFO	skeletal system disease	Mononen-Karnes-Senac syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2565	"" []	5997585	\N	\N	EFO	8	EFO	disposition	Mononen-Karnes-Senac syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2565	"" []	5413086	\N	\N	EFO	7	EFO	disease	Mononen-Karnes-Senac syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2565	"" []	6550940	\N	\N	EFO	9	EFO	material property	Mononen-Karnes-Senac syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2565	"" []	6889177	\N	\N	EFO	10	EFO	experimental factor	Mononen-Karnes-Senac syndrome
Orphanet:257	\N	\N	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	75181	\N	\N	EFO	0	EFO	Epidermolysis bullosa simplex with muscular dystrophy	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:102015	Orphanet:257	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	217605	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:139027	Orphanet:257	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	217606	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:158665	Orphanet:257	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	217607	\N	\N	EFO	1	EFO	Basal epidermolysis bullosa simplex	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:209196	Orphanet:257	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	217608	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of plectin	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:263676	Orphanet:257	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	217609	\N	\N	EFO	1	EFO	Hereditary epidermolysis bullosa associated with ocular features	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	572424	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	572425	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:304	Orphanet:158665	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	572426	\N	\N	EFO	2	EFO	Epidermolysis bullosa simplex	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:207049	Orphanet:209196	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	572427	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:98696	Orphanet:263676	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	572428	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	1154843	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	1154844	\N	\N	EFO	3	EFO	genetic disorder	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	1154845	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	1154846	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	1154847	\N	\N	EFO	3	EFO	Rare genetic eye disease	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	2037584	\N	\N	EFO	4	EFO	Muscular dystrophy	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	6410020	\N	\N	EFO	9	EFO	disease	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	2037586	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	5413087	\N	\N	EFO	7	EFO	muscular disease	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	5413088	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	2037589	\N	\N	EFO	4	EFO	genetic disorder	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	2037590	\N	\N	EFO	4	EFO	eye disease	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	3187921	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Epidermolysis bullosa simplex with muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	6762373	\N	\N	EFO	10	EFO	disposition	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	3187923	\N	\N	EFO	5	EFO	Rare genetic skin disease	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	5817622	\N	\N	EFO	8	EFO	skeletal system disease	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	5817623	\N	\N	EFO	8	EFO	genetic disorder	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	3187927	\N	\N	EFO	5	EFO	disease	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	4395046	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Epidermolysis bullosa simplex with muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	7015683	\N	\N	EFO	11	EFO	material property	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	4395048	\N	\N	EFO	6	EFO	genetic disorder	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	4395049	\N	\N	EFO	6	EFO	skin disease	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	6410019	\N	\N	EFO	9	EFO	disease	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	7173631	\N	\N	EFO	12	EFO	experimental factor	Epidermolysis bullosa simplex with muscular dystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:257	"Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." []	5413091	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex with muscular dystrophy
Orphanet:2571	\N	\N	"" []	Orphanet:2571	"" []	75182	\N	\N	EFO	0	EFO	X-linked immunoneurologic disorder	X-linked immunoneurologic disorder
Orphanet:331232	Orphanet:2571	\N	"" []	Orphanet:2571	"" []	217610	\N	\N	EFO	1	EFO	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells	X-linked immunoneurologic disorder
Orphanet:101977	Orphanet:331232	\N	"" []	Orphanet:2571	"" []	572429	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	X-linked immunoneurologic disorder
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:2571	"" []	1154848	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	X-linked immunoneurologic disorder
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:2571	"" []	2037591	\N	\N	EFO	4	EFO	Primary immunodeficiency	X-linked immunoneurologic disorder
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:2571	"" []	3187928	\N	\N	EFO	5	EFO	Rare genetic immune disease	X-linked immunoneurologic disorder
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2571	"" []	4395052	\N	\N	EFO	6	EFO	genetic disorder	X-linked immunoneurologic disorder
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:2571	"" []	4395053	\N	\N	EFO	6	EFO	immune system disease	X-linked immunoneurologic disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2571	"" []	5413092	\N	\N	EFO	7	EFO	disease	X-linked immunoneurologic disorder
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2571	"" []	5413093	\N	\N	EFO	7	EFO	disease	X-linked immunoneurologic disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2571	"" []	6149713	\N	\N	EFO	8	EFO	disposition	X-linked immunoneurologic disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2571	"" []	6632767	\N	\N	EFO	9	EFO	material property	X-linked immunoneurologic disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2571	"" []	6925660	\N	\N	EFO	10	EFO	experimental factor	X-linked immunoneurologic disorder
Orphanet:2572	\N	\N	"" []	Orphanet:2572	"" []	75183	\N	\N	EFO	0	EFO	Spastic ataxia - corneal dystrophy	Spastic ataxia - corneal dystrophy
Orphanet:316240	Orphanet:2572	\N	"" []	Orphanet:2572	"" []	217611	\N	\N	EFO	1	EFO	Autosomal recessive spastic ataxia	Spastic ataxia - corneal dystrophy
Orphanet:98628	Orphanet:2572	\N	"" []	Orphanet:2572	"" []	217612	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	Spastic ataxia - corneal dystrophy
Orphanet:316226	Orphanet:316240	\N	"" []	Orphanet:2572	"" []	572430	\N	\N	EFO	2	EFO	Spastic ataxia	Spastic ataxia - corneal dystrophy
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:2572	"" []	572431	\N	\N	EFO	2	EFO	Corneal dystrophy	Spastic ataxia - corneal dystrophy
Orphanet:183518	Orphanet:316226	\N	"" []	Orphanet:2572	"" []	1154849	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spastic ataxia - corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:2572	"" []	1154850	\N	\N	EFO	3	EFO	Rare genetic eye disease	Spastic ataxia - corneal dystrophy
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:2572	"" []	2037592	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spastic ataxia - corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2572	"" []	2037593	\N	\N	EFO	4	EFO	genetic disorder	Spastic ataxia - corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2572	"" []	2037594	\N	\N	EFO	4	EFO	eye disease	Spastic ataxia - corneal dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2572	"" []	3187929	\N	\N	EFO	5	EFO	genetic disorder	Spastic ataxia - corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2572	"" []	4395054	\N	\N	EFO	6	EFO	disease	Spastic ataxia - corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2572	"" []	3187931	\N	\N	EFO	5	EFO	disease	Spastic ataxia - corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2572	"" []	5182228	\N	\N	EFO	7	EFO	disposition	Spastic ataxia - corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2572	"" []	5997587	\N	\N	EFO	8	EFO	material property	Spastic ataxia - corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2572	"" []	6550941	\N	\N	EFO	9	EFO	experimental factor	Spastic ataxia - corneal dystrophy
Orphanet:2573	\N	\N	"Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. It affects the intracerebral part of the internal carotids and causes a secondary collateral network to develop following a pattern resembling cigarette smoke ('moya-moya' in Japanese)." []	Orphanet:2573	"Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. It affects the intracerebral part of the internal carotids and causes a secondary collateral network to develop following a pattern resembling cigarette smoke ('moya-moya' in Japanese)." []	75184	\N	\N	EFO	0	EFO	Moyamoya disease	Moyamoya disease
Orphanet:183503	Orphanet:2573	\N	"" []	Orphanet:2573	"Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. It affects the intracerebral part of the internal carotids and causes a secondary collateral network to develop following a pattern resembling cigarette smoke ('moya-moya' in Japanese)." []	217613	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Moyamoya disease
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:2573	"Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. It affects the intracerebral part of the internal carotids and causes a secondary collateral network to develop following a pattern resembling cigarette smoke ('moya-moya' in Japanese)." []	572432	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Moyamoya disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2573	"Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. It affects the intracerebral part of the internal carotids and causes a secondary collateral network to develop following a pattern resembling cigarette smoke ('moya-moya' in Japanese)." []	1154851	\N	\N	EFO	3	EFO	genetic disorder	Moyamoya disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2573	"Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. It affects the intracerebral part of the internal carotids and causes a secondary collateral network to develop following a pattern resembling cigarette smoke ('moya-moya' in Japanese)." []	2037595	\N	\N	EFO	4	EFO	disease	Moyamoya disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2573	"Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. It affects the intracerebral part of the internal carotids and causes a secondary collateral network to develop following a pattern resembling cigarette smoke ('moya-moya' in Japanese)." []	3187932	\N	\N	EFO	5	EFO	disposition	Moyamoya disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2573	"Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. It affects the intracerebral part of the internal carotids and causes a secondary collateral network to develop following a pattern resembling cigarette smoke ('moya-moya' in Japanese)." []	4395056	\N	\N	EFO	6	EFO	material property	Moyamoya disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2573	"Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. It affects the intracerebral part of the internal carotids and causes a secondary collateral network to develop following a pattern resembling cigarette smoke ('moya-moya' in Japanese)." []	5413095	\N	\N	EFO	7	EFO	experimental factor	Moyamoya disease
Orphanet:2574	\N	\N	"" []	Orphanet:2574	"" []	75185	\N	\N	EFO	0	EFO	Moynahan syndrome	Moynahan syndrome
Orphanet:166463	Orphanet:2574	\N	"" []	Orphanet:2574	"" []	217614	\N	\N	EFO	1	EFO	Epilepsy syndrome	Moynahan syndrome
Orphanet:183466	Orphanet:2574	\N	"" []	Orphanet:2574	"" []	217615	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Moynahan syndrome
Orphanet:183763	Orphanet:2574	\N	"" []	Orphanet:2574	"" []	217616	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Moynahan syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:2574	"" []	572433	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Moynahan syndrome
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:2574	"" []	572434	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Moynahan syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2574	"" []	572435	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Moynahan syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2574	"" []	1154852	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Moynahan syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:2574	"" []	1154853	\N	\N	EFO	3	EFO	Rare genetic skin disease	Moynahan syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2574	"" []	1154854	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Moynahan syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2574	"" []	2037596	\N	\N	EFO	4	EFO	genetic disorder	Moynahan syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2574	"" []	2037597	\N	\N	EFO	4	EFO	genetic disorder	Moynahan syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2574	"" []	2037598	\N	\N	EFO	4	EFO	skin disease	Moynahan syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2574	"" []	3187933	\N	\N	EFO	5	EFO	disease	Moynahan syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2574	"" []	3187934	\N	\N	EFO	5	EFO	disease	Moynahan syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2574	"" []	4395057	\N	\N	EFO	6	EFO	disposition	Moynahan syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2574	"" []	5413096	\N	\N	EFO	7	EFO	material property	Moynahan syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2574	"" []	6149715	\N	\N	EFO	8	EFO	experimental factor	Moynahan syndrome
Orphanet:2575	\N	\N	"" []	Orphanet:2575	"" []	75186	\N	\N	EFO	0	EFO	Cystic fibrosis - gastritis - megaloblastic anemia	Cystic fibrosis - gastritis - megaloblastic anemia
Orphanet:165658	Orphanet:2575	\N	"" []	Orphanet:2575	"" []	217617	\N	\N	EFO	1	EFO	Genetic gastro-esophageal disease	Cystic fibrosis - gastritis - megaloblastic anemia
EFO:0000405	Orphanet:165658	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2575	"" []	572436	\N	\N	EFO	2	EFO	digestive system disease	Cystic fibrosis - gastritis - megaloblastic anemia
Orphanet:165652	Orphanet:165658	\N	"" []	Orphanet:2575	"" []	572437	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Cystic fibrosis - gastritis - megaloblastic anemia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2575	"" []	1154855	\N	\N	EFO	3	EFO	disease	Cystic fibrosis - gastritis - megaloblastic anemia
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2575	"" []	1154856	\N	\N	EFO	3	EFO	genetic disorder	Cystic fibrosis - gastritis - megaloblastic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2575	"" []	3187936	\N	\N	EFO	5	EFO	disposition	Cystic fibrosis - gastritis - megaloblastic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2575	"" []	2037600	\N	\N	EFO	4	EFO	disease	Cystic fibrosis - gastritis - megaloblastic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2575	"" []	4133694	\N	\N	EFO	6	EFO	material property	Cystic fibrosis - gastritis - megaloblastic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2575	"" []	5182229	\N	\N	EFO	7	EFO	experimental factor	Cystic fibrosis - gastritis - megaloblastic anemia
Orphanet:2576	\N	\N	"" []	Orphanet:2576	"" []	75187	\N	\N	EFO	0	EFO	MULIBREY nanism	MULIBREY nanism
Orphanet:183570	Orphanet:2576	\N	"" []	Orphanet:2576	"" []	217618	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	MULIBREY nanism
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:2576	"" []	572438	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	MULIBREY nanism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2576	"" []	1154857	\N	\N	EFO	3	EFO	genetic disorder	MULIBREY nanism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2576	"" []	2037601	\N	\N	EFO	4	EFO	disease	MULIBREY nanism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2576	"" []	3187937	\N	\N	EFO	5	EFO	disposition	MULIBREY nanism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2576	"" []	4395059	\N	\N	EFO	6	EFO	material property	MULIBREY nanism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2576	"" []	5413097	\N	\N	EFO	7	EFO	experimental factor	MULIBREY nanism
Orphanet:2578	\N	\N	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	75188	\N	\N	EFO	0	EFO	MURCS association	MURCS association
Orphanet:117573	Orphanet:2578	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	217619	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	MURCS association
Orphanet:3109	Orphanet:2578	\N	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	217620	\N	\N	EFO	1	EFO	Mayer-Rokitansky-Kster-Hauser syndrome	MURCS association
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	572439	\N	\N	EFO	2	EFO	Anorectal malformation	MURCS association
Orphanet:180068	Orphanet:3109	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	572440	\N	\N	EFO	2	EFO	Partial bilateral aplasia of the Mllerian ducts	MURCS association
Orphanet:400025	Orphanet:3109	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	572441	\N	\N	EFO	2	EFO	Female infertility due to an implantation defect of genetic origin	MURCS association
Orphanet:93547	Orphanet:3109	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	572442	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	MURCS association
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	1154858	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	MURCS association
Orphanet:73217	Orphanet:180068	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	1154859	\N	\N	EFO	3	EFO	Mllerian aplasia	MURCS association
Orphanet:400008	Orphanet:400025	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	1154860	\N	\N	EFO	3	EFO	Rare genetic female infertility	MURCS association
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	1154861	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	MURCS association
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	2037602	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	MURCS association
Orphanet:156622	Orphanet:73217	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	2037603	\N	\N	EFO	4	EFO	Genetic urogenital tract malformation	MURCS association
Orphanet:183731	Orphanet:73217	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	2037604	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	MURCS association
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	2037605	\N	\N	EFO	4	EFO	Genetic infertility	MURCS association
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	2037606	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	MURCS association
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	2037607	\N	\N	EFO	4	EFO	Rare genetic renal disease	MURCS association
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	3187938	\N	\N	EFO	5	EFO	genetic disorder	MURCS association
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	3187939	\N	\N	EFO	5	EFO	Rare genetic urogenital disease	MURCS association
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	3187940	\N	\N	EFO	5	EFO	genetic disorder	MURCS association
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	3187941	\N	\N	EFO	5	EFO	reproductive system disease	MURCS association
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	3187942	\N	\N	EFO	5	EFO	genetic disorder	MURCS association
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	3187943	\N	\N	EFO	5	EFO	reproductive system disease	MURCS association
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	3187944	\N	\N	EFO	5	EFO	genetic disorder	MURCS association
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	5413099	\N	\N	EFO	7	EFO	disease	MURCS association
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	4395061	\N	\N	EFO	6	EFO	genetic disorder	MURCS association
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	4395062	\N	\N	EFO	6	EFO	disease	MURCS association
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	5997588	\N	\N	EFO	8	EFO	disposition	MURCS association
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	6550942	\N	\N	EFO	9	EFO	material property	MURCS association
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2578	"MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." []	6889178	\N	\N	EFO	10	EFO	experimental factor	MURCS association
Orphanet:2579	\N	\N	"" []	Orphanet:2579	"" []	75189	\N	\N	EFO	0	EFO	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
Orphanet:183518	Orphanet:2579	\N	"" []	Orphanet:2579	"" []	217621	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
Orphanet:98661	Orphanet:2579	\N	"" []	Orphanet:2579	"" []	217622	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:2579	"" []	572443	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:2579	"" []	572444	\N	\N	EFO	2	EFO	Retinal dystrophy	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2579	"" []	1154862	\N	\N	EFO	3	EFO	genetic disorder	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:2579	"" []	1154863	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2579	"" []	4395064	\N	\N	EFO	6	EFO	disease	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:2579	"" []	2037609	\N	\N	EFO	4	EFO	Rare genetic eye disease	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2579	"" []	5059848	\N	\N	EFO	7	EFO	disposition	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2579	"" []	3187946	\N	\N	EFO	5	EFO	genetic disorder	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2579	"" []	3187947	\N	\N	EFO	5	EFO	eye disease	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2579	"" []	5877114	\N	\N	EFO	8	EFO	material property	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2579	"" []	4395065	\N	\N	EFO	6	EFO	disease	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2579	"" []	6470340	\N	\N	EFO	9	EFO	experimental factor	Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
Orphanet:258	\N	\N	"" []	Orphanet:258	"" []	75190	\N	\N	EFO	0	EFO	Congenital muscular dystrophy type 1A	Congenital muscular dystrophy type 1A
Orphanet:207094	Orphanet:258	\N	"" []	Orphanet:258	"" []	217623	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of merosin	Congenital muscular dystrophy type 1A
Orphanet:97242	Orphanet:258	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:258	"" []	217624	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy type 1A
Orphanet:207049	Orphanet:207094	\N	"" []	Orphanet:258	"" []	572445	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Congenital muscular dystrophy type 1A
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:258	"" []	572446	\N	\N	EFO	2	EFO	Muscular dystrophy	Congenital muscular dystrophy type 1A
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:258	"" []	1154864	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy type 1A
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:258	"" []	1154865	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy type 1A
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:258	"" []	3187950	\N	\N	EFO	5	EFO	muscular disease	Congenital muscular dystrophy type 1A
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:258	"" []	3187951	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy type 1A
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:258	"" []	2037612	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy type 1A
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:258	"" []	4133695	\N	\N	EFO	6	EFO	skeletal system disease	Congenital muscular dystrophy type 1A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:258	"" []	4133696	\N	\N	EFO	6	EFO	genetic disorder	Congenital muscular dystrophy type 1A
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:258	"" []	5182230	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy type 1A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:258	"" []	5182231	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy type 1A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:258	"" []	5997589	\N	\N	EFO	8	EFO	disposition	Congenital muscular dystrophy type 1A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:258	"" []	6550943	\N	\N	EFO	9	EFO	material property	Congenital muscular dystrophy type 1A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:258	"" []	6889179	\N	\N	EFO	10	EFO	experimental factor	Congenital muscular dystrophy type 1A
Orphanet:2580	\N	\N	"" []	Orphanet:2580	"" []	75191	\N	\N	EFO	0	EFO	Shoulder and girdle defects - familial intellectual disability	Shoulder and girdle defects - familial intellectual disability
Orphanet:183763	Orphanet:2580	\N	"" []	Orphanet:2580	"" []	217625	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Shoulder and girdle defects - familial intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2580	"" []	572447	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Shoulder and girdle defects - familial intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2580	"" []	1154866	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Shoulder and girdle defects - familial intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2580	"" []	2037613	\N	\N	EFO	4	EFO	genetic disorder	Shoulder and girdle defects - familial intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2580	"" []	3187952	\N	\N	EFO	5	EFO	disease	Shoulder and girdle defects - familial intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2580	"" []	4395068	\N	\N	EFO	6	EFO	disposition	Shoulder and girdle defects - familial intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2580	"" []	5413102	\N	\N	EFO	7	EFO	material property	Shoulder and girdle defects - familial intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2580	"" []	6149718	\N	\N	EFO	8	EFO	experimental factor	Shoulder and girdle defects - familial intellectual disability
Orphanet:2585	\N	\N	"" []	Orphanet:2585	"" []	75192	\N	\N	EFO	0	EFO	Ataxia - pancytopenia	Ataxia - pancytopenia
Orphanet:183515	Orphanet:2585	\N	"" []	Orphanet:2585	"" []	217626	\N	\N	EFO	1	EFO	Rare genetic medullar disease	Ataxia - pancytopenia
Orphanet:71859	Orphanet:183515	\N	"" []	Orphanet:2585	"" []	572448	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Ataxia - pancytopenia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2585	"" []	1154867	\N	\N	EFO	3	EFO	genetic disorder	Ataxia - pancytopenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2585	"" []	2037614	\N	\N	EFO	4	EFO	disease	Ataxia - pancytopenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2585	"" []	3187953	\N	\N	EFO	5	EFO	disposition	Ataxia - pancytopenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2585	"" []	4395069	\N	\N	EFO	6	EFO	material property	Ataxia - pancytopenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2585	"" []	5413103	\N	\N	EFO	7	EFO	experimental factor	Ataxia - pancytopenia
Orphanet:2587	\N	\N	"" []	Orphanet:2587	"" []	75193	\N	\N	EFO	0	EFO	Myeloperoxidase deficiency	Myeloperoxidase deficiency
Orphanet:183681	Orphanet:2587	\N	"" []	Orphanet:2587	"" []	217627	\N	\N	EFO	1	EFO	Functional neutrophil defect	Myeloperoxidase deficiency
Orphanet:101988	Orphanet:183681	\N	"" []	Orphanet:2587	"" []	572449	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Myeloperoxidase deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:2587	"" []	1154868	\N	\N	EFO	3	EFO	Primary immunodeficiency	Myeloperoxidase deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:2587	"" []	2037615	\N	\N	EFO	4	EFO	Rare genetic immune disease	Myeloperoxidase deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2587	"" []	3187954	\N	\N	EFO	5	EFO	genetic disorder	Myeloperoxidase deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:2587	"" []	3187955	\N	\N	EFO	5	EFO	immune system disease	Myeloperoxidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2587	"" []	4395070	\N	\N	EFO	6	EFO	disease	Myeloperoxidase deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2587	"" []	4395071	\N	\N	EFO	6	EFO	disease	Myeloperoxidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2587	"" []	5413104	\N	\N	EFO	7	EFO	disposition	Myeloperoxidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2587	"" []	6149719	\N	\N	EFO	8	EFO	material property	Myeloperoxidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2587	"" []	6632770	\N	\N	EFO	9	EFO	experimental factor	Myeloperoxidase deficiency
Orphanet:2588	\N	\N	"" []	Orphanet:2588	"" []	75194	\N	\N	EFO	0	EFO	Myhre syndrome	Myhre syndrome
Orphanet:102283	Orphanet:2588	\N	"" []	Orphanet:2588	"" []	217628	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Myhre syndrome
Orphanet:183763	Orphanet:2588	\N	"" []	Orphanet:2588	"" []	217629	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Myhre syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2588	"" []	572450	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Myhre syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2588	"" []	572451	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Myhre syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2588	"" []	1154869	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Myhre syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2588	"" []	1154870	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Myhre syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2588	"" []	2037616	\N	\N	EFO	4	EFO	genetic disorder	Myhre syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2588	"" []	2037617	\N	\N	EFO	4	EFO	genetic disorder	Myhre syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2588	"" []	3187956	\N	\N	EFO	5	EFO	disease	Myhre syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2588	"" []	4395072	\N	\N	EFO	6	EFO	disposition	Myhre syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2588	"" []	5413105	\N	\N	EFO	7	EFO	material property	Myhre syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2588	"" []	6149720	\N	\N	EFO	8	EFO	experimental factor	Myhre syndrome
Orphanet:2589	\N	\N	"" []	Orphanet:2589	"" []	75195	\N	\N	EFO	0	EFO	Myoclonus - cerebellar ataxia - deafness	Myoclonus - cerebellar ataxia - deafness
Orphanet:183518	Orphanet:2589	\N	"" []	Orphanet:2589	"" []	217630	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Myoclonus - cerebellar ataxia - deafness
Orphanet:90642	Orphanet:2589	\N	"" []	Orphanet:2589	"" []	217631	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Myoclonus - cerebellar ataxia - deafness
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:2589	"" []	572452	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Myoclonus - cerebellar ataxia - deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2589	"" []	572453	\N	\N	EFO	2	EFO	Rare genetic deafness	Myoclonus - cerebellar ataxia - deafness
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2589	"" []	1154871	\N	\N	EFO	3	EFO	genetic disorder	Myoclonus - cerebellar ataxia - deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2589	"" []	1154872	\N	\N	EFO	3	EFO	genetic disorder	Myoclonus - cerebellar ataxia - deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2589	"" []	1154873	\N	\N	EFO	3	EFO	auditory system disease	Myoclonus - cerebellar ataxia - deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2589	"" []	2037618	\N	\N	EFO	4	EFO	disease	Myoclonus - cerebellar ataxia - deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2589	"" []	2037619	\N	\N	EFO	4	EFO	sensory system disease	Myoclonus - cerebellar ataxia - deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2589	"" []	5413107	\N	\N	EFO	7	EFO	disposition	Myoclonus - cerebellar ataxia - deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2589	"" []	3187958	\N	\N	EFO	5	EFO	nervous system disease	Myoclonus - cerebellar ataxia - deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2589	"" []	5877115	\N	\N	EFO	8	EFO	material property	Myoclonus - cerebellar ataxia - deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2589	"" []	4395074	\N	\N	EFO	6	EFO	disease	Myoclonus - cerebellar ataxia - deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2589	"" []	6470341	\N	\N	EFO	9	EFO	experimental factor	Myoclonus - cerebellar ataxia - deafness
Orphanet:2590	\N	\N	"" []	Orphanet:2590	"" []	75196	\N	\N	EFO	0	EFO	Hereditary myoclonus - progressive distal muscular atrophy	Hereditary myoclonus - progressive distal muscular atrophy
Orphanet:306762	Orphanet:2590	\N	"" []	Orphanet:2590	"" []	217632	\N	\N	EFO	1	EFO	Progressive epilepsy and/or ataxia with myoclonus as a major feature	Hereditary myoclonus - progressive distal muscular atrophy
Orphanet:306756	Orphanet:306762	\N	"" []	Orphanet:2590	"" []	572454	\N	\N	EFO	2	EFO	Epilepsy and/or ataxia with myoclonus as major feature	Hereditary myoclonus - progressive distal muscular atrophy
Orphanet:307067	Orphanet:306756	\N	"" []	Orphanet:2590	"" []	1154874	\N	\N	EFO	3	EFO	Rare genetic disease with myoclonus as a major feature	Hereditary myoclonus - progressive distal muscular atrophy
Orphanet:307064	Orphanet:307067	\N	"" []	Orphanet:2590	"" []	2037620	\N	\N	EFO	4	EFO	Rare genetic myoclonus	Hereditary myoclonus - progressive distal muscular atrophy
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:2590	"" []	3187959	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Hereditary myoclonus - progressive distal muscular atrophy
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:2590	"" []	4395075	\N	\N	EFO	6	EFO	movement disorder	Hereditary myoclonus - progressive distal muscular atrophy
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:2590	"" []	4395076	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Hereditary myoclonus - progressive distal muscular atrophy
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2590	"" []	5413108	\N	\N	EFO	7	EFO	nervous system disease	Hereditary myoclonus - progressive distal muscular atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2590	"" []	5413109	\N	\N	EFO	7	EFO	genetic disorder	Hereditary myoclonus - progressive distal muscular atrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2590	"" []	6149721	\N	\N	EFO	8	EFO	disease	Hereditary myoclonus - progressive distal muscular atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2590	"" []	6149722	\N	\N	EFO	8	EFO	disease	Hereditary myoclonus - progressive distal muscular atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2590	"" []	6632771	\N	\N	EFO	9	EFO	disposition	Hereditary myoclonus - progressive distal muscular atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2590	"" []	6925661	\N	\N	EFO	10	EFO	material property	Hereditary myoclonus - progressive distal muscular atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2590	"" []	7099102	\N	\N	EFO	11	EFO	experimental factor	Hereditary myoclonus - progressive distal muscular atrophy
Orphanet:2591	\N	\N	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	75197	\N	\N	EFO	0	EFO	Infantile myofibromatosis	Infantile myofibromatosis
Orphanet:183487	Orphanet:2591	\N	"" []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	217633	\N	\N	EFO	1	EFO	Genetic skin tumor	Infantile myofibromatosis
Orphanet:271832	Orphanet:2591	\N	"" []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	217634	\N	\N	EFO	1	EFO	Genetic soft tissue tumor	Infantile myofibromatosis
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	572455	\N	\N	EFO	2	EFO	skin neoplasm	Infantile myofibromatosis
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	572456	\N	\N	EFO	2	EFO	Rare genetic tumor	Infantile myofibromatosis
Orphanet:68336	Orphanet:271832	\N	"" []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	572457	\N	\N	EFO	2	EFO	Rare genetic tumor	Infantile myofibromatosis
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	1154875	\N	\N	EFO	3	EFO	neoplasm	Infantile myofibromatosis
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	1154876	\N	\N	EFO	3	EFO	skin disease	Infantile myofibromatosis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	1154877	\N	\N	EFO	3	EFO	genetic disorder	Infantile myofibromatosis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	1154878	\N	\N	EFO	3	EFO	neoplasm	Infantile myofibromatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	2037621	\N	\N	EFO	4	EFO	disease	Infantile myofibromatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	2037622	\N	\N	EFO	4	EFO	disease	Infantile myofibromatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	2037623	\N	\N	EFO	4	EFO	disease	Infantile myofibromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	3187960	\N	\N	EFO	5	EFO	disposition	Infantile myofibromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	4395077	\N	\N	EFO	6	EFO	material property	Infantile myofibromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2591	"Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." []	5413110	\N	\N	EFO	7	EFO	experimental factor	Infantile myofibromatosis
Orphanet:2593	\N	\N	"" []	Orphanet:2593	"" []	75198	\N	\N	EFO	0	EFO	Tubular aggregate myopathy	Tubular aggregate myopathy
Orphanet:97245	Orphanet:2593	\N	"" []	Orphanet:2593	"" []	217635	\N	\N	EFO	1	EFO	Congenital myopathy	Tubular aggregate myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:2593	"" []	572458	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Tubular aggregate myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:2593	"" []	1154879	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Tubular aggregate myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:2593	"" []	2037624	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Tubular aggregate myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:2593	"" []	3187961	\N	\N	EFO	5	EFO	muscular disease	Tubular aggregate myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:2593	"" []	3187962	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Tubular aggregate myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2593	"" []	4395078	\N	\N	EFO	6	EFO	skeletal system disease	Tubular aggregate myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2593	"" []	4395079	\N	\N	EFO	6	EFO	genetic disorder	Tubular aggregate myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2593	"" []	5413111	\N	\N	EFO	7	EFO	disease	Tubular aggregate myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2593	"" []	5413112	\N	\N	EFO	7	EFO	disease	Tubular aggregate myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2593	"" []	6149723	\N	\N	EFO	8	EFO	disposition	Tubular aggregate myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2593	"" []	6632772	\N	\N	EFO	9	EFO	material property	Tubular aggregate myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2593	"" []	6925662	\N	\N	EFO	10	EFO	experimental factor	Tubular aggregate myopathy
Orphanet:2596	\N	\N	"" []	Orphanet:2596	"" []	75199	\N	\N	EFO	0	EFO	Myopathy and diabetes mellitus	Myopathy and diabetes mellitus
Orphanet:183625	Orphanet:2596	\N	"" []	Orphanet:2596	"" []	217636	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Myopathy and diabetes mellitus
Orphanet:206953	Orphanet:2596	\N	"" []	Orphanet:2596	"" []	217637	\N	\N	EFO	1	EFO	Muscular lipidosis	Myopathy and diabetes mellitus
Orphanet:254788	Orphanet:2596	\N	"" []	Orphanet:2596	"" []	217638	\N	\N	EFO	1	EFO	Maternally-inherited mitochondrial myopathy	Myopathy and diabetes mellitus
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:2596	"" []	572459	\N	\N	EFO	2	EFO	diabetes mellitus	Myopathy and diabetes mellitus
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:2596	"" []	572460	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Myopathy and diabetes mellitus
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:2596	"" []	572461	\N	\N	EFO	2	EFO	Metabolic myopathy	Myopathy and diabetes mellitus
Orphanet:254776	Orphanet:254788	\N	"" []	Orphanet:2596	"" []	572462	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Myopathy and diabetes mellitus
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2596	"" []	1154880	\N	\N	EFO	3	EFO	metabolic disease	Myopathy and diabetes mellitus
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2596	"" []	1154881	\N	\N	EFO	3	EFO	genetic disorder	Myopathy and diabetes mellitus
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2596	"" []	1154882	\N	\N	EFO	3	EFO	endocrine system disease	Myopathy and diabetes mellitus
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:2596	"" []	1154883	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Myopathy and diabetes mellitus
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:2596	"" []	1154884	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Myopathy and diabetes mellitus
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2596	"" []	6632774	\N	\N	EFO	9	EFO	disease	Myopathy and diabetes mellitus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2596	"" []	6632773	\N	\N	EFO	9	EFO	disease	Myopathy and diabetes mellitus
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2596	"" []	2037627	\N	\N	EFO	4	EFO	disease	Myopathy and diabetes mellitus
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:2596	"" []	2037628	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Myopathy and diabetes mellitus
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:2596	"" []	2037629	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Myopathy and diabetes mellitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2596	"" []	6762374	\N	\N	EFO	10	EFO	disposition	Myopathy and diabetes mellitus
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:2596	"" []	3187964	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Myopathy and diabetes mellitus
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:2596	"" []	3187965	\N	\N	EFO	5	EFO	Mitochondrial disease	Myopathy and diabetes mellitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2596	"" []	7015684	\N	\N	EFO	11	EFO	material property	Myopathy and diabetes mellitus
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:2596	"" []	4395081	\N	\N	EFO	6	EFO	muscular disease	Myopathy and diabetes mellitus
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:2596	"" []	4395082	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Myopathy and diabetes mellitus
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:2596	"" []	4395083	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Myopathy and diabetes mellitus
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:2596	"" []	4395084	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Myopathy and diabetes mellitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2596	"" []	7173632	\N	\N	EFO	12	EFO	experimental factor	Myopathy and diabetes mellitus
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2596	"" []	5413114	\N	\N	EFO	7	EFO	skeletal system disease	Myopathy and diabetes mellitus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2596	"" []	5413115	\N	\N	EFO	7	EFO	genetic disorder	Myopathy and diabetes mellitus
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:2596	"" []	5413116	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Myopathy and diabetes mellitus
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:2596	"" []	5413117	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Myopathy and diabetes mellitus
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2596	"" []	6149724	\N	\N	EFO	8	EFO	disease	Myopathy and diabetes mellitus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2596	"" []	6149726	\N	\N	EFO	8	EFO	genetic disorder	Myopathy and diabetes mellitus
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2596	"" []	6149727	\N	\N	EFO	8	EFO	genetic disorder	Myopathy and diabetes mellitus
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2596	"" []	6149728	\N	\N	EFO	8	EFO	metabolic disease	Myopathy and diabetes mellitus
Orphanet:25968	\N	\N	"" []	Orphanet:25968	"" []	75200	\N	\N	EFO	0	EFO	Benign occipital epilepsy	Benign occipital epilepsy
Orphanet:98259	Orphanet:25968	\N	"" []	Orphanet:25968	"" []	217639	\N	\N	EFO	1	EFO	Childhood-onset epilepsy syndrome	Benign occipital epilepsy
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:25968	"" []	572463	\N	\N	EFO	2	EFO	Epilepsy syndrome	Benign occipital epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:25968	"" []	1154885	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Benign occipital epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:25968	"" []	2037630	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Benign occipital epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:25968	"" []	3187966	\N	\N	EFO	5	EFO	genetic disorder	Benign occipital epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:25968	"" []	4395085	\N	\N	EFO	6	EFO	disease	Benign occipital epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:25968	"" []	5413118	\N	\N	EFO	7	EFO	disposition	Benign occipital epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:25968	"" []	6149729	\N	\N	EFO	8	EFO	material property	Benign occipital epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:25968	"" []	6632775	\N	\N	EFO	9	EFO	experimental factor	Benign occipital epilepsy
Orphanet:2597	\N	\N	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	75201	\N	\N	EFO	0	EFO	Mitochondrial myopathy - lactic acidosis - deafness	Mitochondrial myopathy - lactic acidosis - deafness
Orphanet:206966	Orphanet:2597	\N	"" []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	217640	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Mitochondrial myopathy - lactic acidosis - deafness
Orphanet:90642	Orphanet:2597	\N	"" []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	217641	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Mitochondrial myopathy - lactic acidosis - deafness
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	572464	\N	\N	EFO	2	EFO	Muscular lipidosis	Mitochondrial myopathy - lactic acidosis - deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	572465	\N	\N	EFO	2	EFO	Rare genetic deafness	Mitochondrial myopathy - lactic acidosis - deafness
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	1154886	\N	\N	EFO	3	EFO	Metabolic myopathy	Mitochondrial myopathy - lactic acidosis - deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	1154887	\N	\N	EFO	3	EFO	genetic disorder	Mitochondrial myopathy - lactic acidosis - deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	1154888	\N	\N	EFO	3	EFO	auditory system disease	Mitochondrial myopathy - lactic acidosis - deafness
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	2037631	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Mitochondrial myopathy - lactic acidosis - deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	6632777	\N	\N	EFO	9	EFO	disease	Mitochondrial myopathy - lactic acidosis - deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	2037633	\N	\N	EFO	4	EFO	sensory system disease	Mitochondrial myopathy - lactic acidosis - deafness
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	3187967	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Mitochondrial myopathy - lactic acidosis - deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	6762375	\N	\N	EFO	10	EFO	disposition	Mitochondrial myopathy - lactic acidosis - deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	3187969	\N	\N	EFO	5	EFO	nervous system disease	Mitochondrial myopathy - lactic acidosis - deafness
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	4395086	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Mitochondrial myopathy - lactic acidosis - deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	7015685	\N	\N	EFO	11	EFO	material property	Mitochondrial myopathy - lactic acidosis - deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	4395088	\N	\N	EFO	6	EFO	disease	Mitochondrial myopathy - lactic acidosis - deafness
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	5413119	\N	\N	EFO	7	EFO	muscular disease	Mitochondrial myopathy - lactic acidosis - deafness
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	5413120	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Mitochondrial myopathy - lactic acidosis - deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	7173633	\N	\N	EFO	12	EFO	experimental factor	Mitochondrial myopathy - lactic acidosis - deafness
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	6149730	\N	\N	EFO	8	EFO	skeletal system disease	Mitochondrial myopathy - lactic acidosis - deafness
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	6149731	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial myopathy - lactic acidosis - deafness
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2597	"Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate neural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." []	6632776	\N	\N	EFO	9	EFO	disease	Mitochondrial myopathy - lactic acidosis - deafness
Orphanet:2598	\N	\N	"" []	Orphanet:2598	"" []	75202	\N	\N	EFO	0	EFO	Mitochondrial myopathy and sideroblastic anemia	Mitochondrial myopathy and sideroblastic anemia
Orphanet:206966	Orphanet:2598	\N	"" []	Orphanet:2598	"" []	217642	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Mitochondrial myopathy and sideroblastic anemia
Orphanet:35696	Orphanet:2598	\N	"" []	Orphanet:2598	"" []	217643	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Mitochondrial myopathy and sideroblastic anemia
Orphanet:98362	Orphanet:2598	\N	"" []	Orphanet:2598	"" []	217644	\N	\N	EFO	1	EFO	Constitutional sideroblastic anemia	Mitochondrial myopathy and sideroblastic anemia
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:2598	"" []	572466	\N	\N	EFO	2	EFO	Muscular lipidosis	Mitochondrial myopathy and sideroblastic anemia
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:2598	"" []	572467	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial myopathy and sideroblastic anemia
Orphanet:183651	Orphanet:98362	\N	"" []	Orphanet:2598	"" []	572468	\N	\N	EFO	2	EFO	Rare constitutional anemia	Mitochondrial myopathy and sideroblastic anemia
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:2598	"" []	1154889	\N	\N	EFO	3	EFO	Metabolic myopathy	Mitochondrial myopathy and sideroblastic anemia
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:2598	"" []	1154890	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial myopathy and sideroblastic anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:2598	"" []	1154891	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Mitochondrial myopathy and sideroblastic anemia
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:2598	"" []	2037634	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Mitochondrial myopathy and sideroblastic anemia
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:2598	"" []	2037635	\N	\N	EFO	4	EFO	Mitochondrial disease	Mitochondrial myopathy and sideroblastic anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2598	"" []	2037636	\N	\N	EFO	4	EFO	genetic disorder	Mitochondrial myopathy and sideroblastic anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:2598	"" []	2037637	\N	\N	EFO	4	EFO	hematological system disease	Mitochondrial myopathy and sideroblastic anemia
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:2598	"" []	3187970	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Mitochondrial myopathy and sideroblastic anemia
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:2598	"" []	3187971	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Mitochondrial myopathy and sideroblastic anemia
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:2598	"" []	3187972	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Mitochondrial myopathy and sideroblastic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2598	"" []	6632779	\N	\N	EFO	9	EFO	disease	Mitochondrial myopathy and sideroblastic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2598	"" []	3187974	\N	\N	EFO	5	EFO	disease	Mitochondrial myopathy and sideroblastic anemia
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:2598	"" []	4395089	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Mitochondrial myopathy and sideroblastic anemia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:2598	"" []	4395090	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial myopathy and sideroblastic anemia
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:2598	"" []	4395091	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Mitochondrial myopathy and sideroblastic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2598	"" []	6778684	\N	\N	EFO	10	EFO	disposition	Mitochondrial myopathy and sideroblastic anemia
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:2598	"" []	5413123	\N	\N	EFO	7	EFO	muscular disease	Mitochondrial myopathy and sideroblastic anemia
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:2598	"" []	5413124	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Mitochondrial myopathy and sideroblastic anemia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2598	"" []	5413125	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial myopathy and sideroblastic anemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2598	"" []	5413126	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial myopathy and sideroblastic anemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2598	"" []	5413127	\N	\N	EFO	7	EFO	metabolic disease	Mitochondrial myopathy and sideroblastic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2598	"" []	7029887	\N	\N	EFO	11	EFO	material property	Mitochondrial myopathy and sideroblastic anemia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2598	"" []	6149732	\N	\N	EFO	8	EFO	skeletal system disease	Mitochondrial myopathy and sideroblastic anemia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2598	"" []	6149733	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial myopathy and sideroblastic anemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2598	"" []	6149735	\N	\N	EFO	8	EFO	disease	Mitochondrial myopathy and sideroblastic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2598	"" []	7181769	\N	\N	EFO	12	EFO	experimental factor	Mitochondrial myopathy and sideroblastic anemia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2598	"" []	6632778	\N	\N	EFO	9	EFO	disease	Mitochondrial myopathy and sideroblastic anemia
Orphanet:25980	\N	\N	"" []	Orphanet:25980	"" []	75203	\N	\N	EFO	0	EFO	X-linked myopathy with excessive autophagy	X-linked myopathy with excessive autophagy
Orphanet:206644	Orphanet:25980	\N	"" []	Orphanet:25980	"" []	217645	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	X-linked myopathy with excessive autophagy
Orphanet:206662	Orphanet:25980	\N	"" []	Orphanet:25980	"" []	217646	\N	\N	EFO	1	EFO	Inclusion myopathy	X-linked myopathy with excessive autophagy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:25980	"" []	572469	\N	\N	EFO	2	EFO	Muscular dystrophy	X-linked myopathy with excessive autophagy
Orphanet:206656	Orphanet:206662	\N	"" []	Orphanet:25980	"" []	572470	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	X-linked myopathy with excessive autophagy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:25980	"" []	1154892	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	X-linked myopathy with excessive autophagy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:25980	"" []	1154893	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	X-linked myopathy with excessive autophagy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:25980	"" []	2037638	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	X-linked myopathy with excessive autophagy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:25980	"" []	3187975	\N	\N	EFO	5	EFO	muscular disease	X-linked myopathy with excessive autophagy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:25980	"" []	3187976	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked myopathy with excessive autophagy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:25980	"" []	4395093	\N	\N	EFO	6	EFO	skeletal system disease	X-linked myopathy with excessive autophagy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:25980	"" []	4395094	\N	\N	EFO	6	EFO	genetic disorder	X-linked myopathy with excessive autophagy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:25980	"" []	5413129	\N	\N	EFO	7	EFO	disease	X-linked myopathy with excessive autophagy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:25980	"" []	5413130	\N	\N	EFO	7	EFO	disease	X-linked myopathy with excessive autophagy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:25980	"" []	6149737	\N	\N	EFO	8	EFO	disposition	X-linked myopathy with excessive autophagy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:25980	"" []	6632780	\N	\N	EFO	9	EFO	material property	X-linked myopathy with excessive autophagy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:25980	"" []	6925663	\N	\N	EFO	10	EFO	experimental factor	X-linked myopathy with excessive autophagy
Orphanet:26	\N	\N	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	75204	\N	\N	EFO	0	EFO	Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia with homocystinuria
Orphanet:79163	Orphanet:26	\N	"" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	217647	\N	\N	EFO	1	EFO	Classic organic aciduria	Methylmalonic acidemia with homocystinuria
Orphanet:79171	Orphanet:26	\N	"" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	217648	\N	\N	EFO	1	EFO	Disorder of cobalamin metabolism and transport	Methylmalonic acidemia with homocystinuria
Orphanet:98396	Orphanet:26	\N	"" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	217649	\N	\N	EFO	1	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Methylmalonic acidemia with homocystinuria
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	572471	\N	\N	EFO	2	EFO	Organic aciduria	Methylmalonic acidemia with homocystinuria
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	572472	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Methylmalonic acidemia with homocystinuria
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	572473	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Methylmalonic acidemia with homocystinuria
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	572474	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Methylmalonic acidemia with homocystinuria
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	1154894	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Methylmalonic acidemia with homocystinuria
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	1154895	\N	\N	EFO	3	EFO	metabolic disease	Methylmalonic acidemia with homocystinuria
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	1154896	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Methylmalonic acidemia with homocystinuria
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	1154897	\N	\N	EFO	3	EFO	Rare constitutional anemia	Methylmalonic acidemia with homocystinuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	2037639	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Methylmalonic acidemia with homocystinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	4395096	\N	\N	EFO	6	EFO	disease	Methylmalonic acidemia with homocystinuria
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	2037641	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Methylmalonic acidemia with homocystinuria
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	2037642	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Methylmalonic acidemia with homocystinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	3187977	\N	\N	EFO	5	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	3187978	\N	\N	EFO	5	EFO	metabolic disease	Methylmalonic acidemia with homocystinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	5059849	\N	\N	EFO	7	EFO	disposition	Methylmalonic acidemia with homocystinuria
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	3187980	\N	\N	EFO	5	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	3187981	\N	\N	EFO	5	EFO	hematological system disease	Methylmalonic acidemia with homocystinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	4395095	\N	\N	EFO	6	EFO	disease	Methylmalonic acidemia with homocystinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	5877117	\N	\N	EFO	8	EFO	material property	Methylmalonic acidemia with homocystinuria
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	4395098	\N	\N	EFO	6	EFO	disease	Methylmalonic acidemia with homocystinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:26	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	6470343	\N	\N	EFO	9	EFO	experimental factor	Methylmalonic acidemia with homocystinuria
Orphanet:2601	\N	\N	"" []	Orphanet:2601	"" []	75205	\N	\N	EFO	0	EFO	Myopathy - growth delay - intellectual disability - hypospadias	Myopathy - growth delay - intellectual disability - hypospadias
Orphanet:165707	Orphanet:2601	\N	"" []	Orphanet:2601	"" []	217650	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Myopathy - growth delay - intellectual disability - hypospadias
Orphanet:183763	Orphanet:2601	\N	"" []	Orphanet:2601	"" []	217651	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Myopathy - growth delay - intellectual disability - hypospadias
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2601	"" []	572475	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Myopathy - growth delay - intellectual disability - hypospadias
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2601	"" []	572476	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Myopathy - growth delay - intellectual disability - hypospadias
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2601	"" []	1154898	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Myopathy - growth delay - intellectual disability - hypospadias
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2601	"" []	1154899	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Myopathy - growth delay - intellectual disability - hypospadias
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2601	"" []	2037643	\N	\N	EFO	4	EFO	genetic disorder	Myopathy - growth delay - intellectual disability - hypospadias
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2601	"" []	2037644	\N	\N	EFO	4	EFO	genetic disorder	Myopathy - growth delay - intellectual disability - hypospadias
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2601	"" []	3187982	\N	\N	EFO	5	EFO	disease	Myopathy - growth delay - intellectual disability - hypospadias
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2601	"" []	4395099	\N	\N	EFO	6	EFO	disposition	Myopathy - growth delay - intellectual disability - hypospadias
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2601	"" []	5413132	\N	\N	EFO	7	EFO	material property	Myopathy - growth delay - intellectual disability - hypospadias
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2601	"" []	6149738	\N	\N	EFO	8	EFO	experimental factor	Myopathy - growth delay - intellectual disability - hypospadias
Orphanet:260305	\N	\N	"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." []	Orphanet:260305	"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." []	75206	\N	\N	EFO	0	EFO	Autosomal recessive sideroblastic anemia	Autosomal recessive sideroblastic anemia
Orphanet:98362	Orphanet:260305	\N	"" []	Orphanet:260305	"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." []	217652	\N	\N	EFO	1	EFO	Constitutional sideroblastic anemia	Autosomal recessive sideroblastic anemia
Orphanet:183651	Orphanet:98362	\N	"" []	Orphanet:260305	"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." []	572477	\N	\N	EFO	2	EFO	Rare constitutional anemia	Autosomal recessive sideroblastic anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:260305	"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." []	1154900	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Autosomal recessive sideroblastic anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:260305	"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." []	2037645	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive sideroblastic anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:260305	"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." []	2037646	\N	\N	EFO	4	EFO	hematological system disease	Autosomal recessive sideroblastic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:260305	"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." []	3187983	\N	\N	EFO	5	EFO	disease	Autosomal recessive sideroblastic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:260305	"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." []	3187984	\N	\N	EFO	5	EFO	disease	Autosomal recessive sideroblastic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:260305	"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." []	4395100	\N	\N	EFO	6	EFO	disposition	Autosomal recessive sideroblastic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:260305	"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." []	5413133	\N	\N	EFO	7	EFO	material property	Autosomal recessive sideroblastic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:260305	"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." []	6149739	\N	\N	EFO	8	EFO	experimental factor	Autosomal recessive sideroblastic anemia
Orphanet:2604	\N	\N	"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." []	Orphanet:2604	"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." []	75207	\N	\N	EFO	0	EFO	Familial visceral myopathy	Familial visceral myopathy
Orphanet:104009	Orphanet:2604	\N	"" []	Orphanet:2604	"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." []	217653	\N	\N	EFO	1	EFO	Congenital intestinal motility disorder	Familial visceral myopathy
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:2604	"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." []	572478	\N	\N	EFO	2	EFO	Genetic intestinal disease	Familial visceral myopathy
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2604	"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." []	1154901	\N	\N	EFO	3	EFO	digestive system disease	Familial visceral myopathy
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:2604	"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." []	1154902	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Familial visceral myopathy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2604	"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." []	2037647	\N	\N	EFO	4	EFO	disease	Familial visceral myopathy
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2604	"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." []	2037648	\N	\N	EFO	4	EFO	genetic disorder	Familial visceral myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2604	"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." []	4395102	\N	\N	EFO	6	EFO	disposition	Familial visceral myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2604	"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." []	3187986	\N	\N	EFO	5	EFO	disease	Familial visceral myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2604	"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." []	5182232	\N	\N	EFO	7	EFO	material property	Familial visceral myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2604	"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." []	5997590	\N	\N	EFO	8	EFO	experimental factor	Familial visceral myopathy
Orphanet:2608	\N	\N	"" []	Orphanet:2608	"" []	75208	\N	\N	EFO	0	EFO	N syndrome	N syndrome
Orphanet:102283	Orphanet:2608	\N	"" []	Orphanet:2608	"" []	217654	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	N syndrome
Orphanet:140162	Orphanet:2608	\N	"" []	Orphanet:2608	"" []	217655	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	N syndrome
Orphanet:90642	Orphanet:2608	\N	"" []	Orphanet:2608	"" []	217656	\N	\N	EFO	1	EFO	Syndromic genetic deafness	N syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2608	"" []	572479	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	N syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2608	"" []	572480	\N	\N	EFO	2	EFO	genetic disorder	N syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2608	"" []	572481	\N	\N	EFO	2	EFO	Rare genetic deafness	N syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2608	"" []	1154903	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	N syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2608	"" []	3187987	\N	\N	EFO	5	EFO	disease	N syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2608	"" []	1154905	\N	\N	EFO	3	EFO	genetic disorder	N syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2608	"" []	1154906	\N	\N	EFO	3	EFO	auditory system disease	N syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2608	"" []	2037649	\N	\N	EFO	4	EFO	genetic disorder	N syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2608	"" []	5413135	\N	\N	EFO	7	EFO	disposition	N syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2608	"" []	2037652	\N	\N	EFO	4	EFO	sensory system disease	N syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2608	"" []	5817624	\N	\N	EFO	8	EFO	material property	N syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2608	"" []	3187989	\N	\N	EFO	5	EFO	nervous system disease	N syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2608	"" []	6410022	\N	\N	EFO	9	EFO	experimental factor	N syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2608	"" []	4395104	\N	\N	EFO	6	EFO	disease	N syndrome
Orphanet:2609	\N	\N	"" []	Orphanet:2609	"" []	75209	\N	\N	EFO	0	EFO	Isolated NADH-CoQ reductase deficiency	Isolated NADH-CoQ reductase deficiency
Orphanet:206966	Orphanet:2609	\N	"" []	Orphanet:2609	"" []	217657	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Isolated NADH-CoQ reductase deficiency
Orphanet:254846	Orphanet:2609	\N	"" []	Orphanet:2609	"" []	217658	\N	\N	EFO	1	EFO	Isolated oxidative phosphorylation complex disorder	Isolated NADH-CoQ reductase deficiency
Orphanet:68385	Orphanet:2609	\N	"" []	Orphanet:2609	"" []	217659	\N	\N	EFO	1	EFO	Neurometabolic disease	Isolated NADH-CoQ reductase deficiency
Orphanet:98464	Orphanet:2609	\N	"" []	Orphanet:2609	"" []	217660	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Isolated NADH-CoQ reductase deficiency
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:2609	"" []	572482	\N	\N	EFO	2	EFO	Muscular lipidosis	Isolated NADH-CoQ reductase deficiency
Orphanet:223713	Orphanet:254846	\N	"" []	Orphanet:2609	"" []	572483	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Isolated NADH-CoQ reductase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:2609	"" []	572484	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Isolated NADH-CoQ reductase deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2609	"" []	572485	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Isolated NADH-CoQ reductase deficiency
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:2609	"" []	1154907	\N	\N	EFO	3	EFO	Metabolic myopathy	Isolated NADH-CoQ reductase deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:2609	"" []	1154908	\N	\N	EFO	3	EFO	Mitochondrial disease	Isolated NADH-CoQ reductase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2609	"" []	6149741	\N	\N	EFO	8	EFO	genetic disorder	Isolated NADH-CoQ reductase deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2609	"" []	1154910	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Isolated NADH-CoQ reductase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:2609	"" []	2037653	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Isolated NADH-CoQ reductase deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:2609	"" []	2037654	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Isolated NADH-CoQ reductase deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:2609	"" []	2037655	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Isolated NADH-CoQ reductase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2609	"" []	6370823	\N	\N	EFO	9	EFO	disease	Isolated NADH-CoQ reductase deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2609	"" []	2037657	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Isolated NADH-CoQ reductase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:2609	"" []	3187990	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Isolated NADH-CoQ reductase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:2609	"" []	3187991	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated NADH-CoQ reductase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:2609	"" []	3187992	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Isolated NADH-CoQ reductase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2609	"" []	6762376	\N	\N	EFO	10	EFO	disposition	Isolated NADH-CoQ reductase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:2609	"" []	4395105	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Isolated NADH-CoQ reductase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2609	"" []	4395106	\N	\N	EFO	6	EFO	genetic disorder	Isolated NADH-CoQ reductase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2609	"" []	4395107	\N	\N	EFO	6	EFO	genetic disorder	Isolated NADH-CoQ reductase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2609	"" []	4395108	\N	\N	EFO	6	EFO	metabolic disease	Isolated NADH-CoQ reductase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2609	"" []	7015686	\N	\N	EFO	11	EFO	material property	Isolated NADH-CoQ reductase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:2609	"" []	5413136	\N	\N	EFO	7	EFO	muscular disease	Isolated NADH-CoQ reductase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:2609	"" []	5413137	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Isolated NADH-CoQ reductase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2609	"" []	5413139	\N	\N	EFO	7	EFO	disease	Isolated NADH-CoQ reductase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2609	"" []	7173634	\N	\N	EFO	12	EFO	experimental factor	Isolated NADH-CoQ reductase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2609	"" []	6149740	\N	\N	EFO	8	EFO	skeletal system disease	Isolated NADH-CoQ reductase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2609	"" []	6632781	\N	\N	EFO	9	EFO	disease	Isolated NADH-CoQ reductase deficiency
Orphanet:261	\N	\N	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	75210	\N	\N	EFO	0	EFO	Emery-Dreifuss muscular dystrophy	Emery-Dreifuss muscular dystrophy
Orphanet:206644	Orphanet:261	\N	"" []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	217661	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	Emery-Dreifuss muscular dystrophy
Orphanet:217610	Orphanet:261	\N	"" []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	217662	\N	\N	EFO	1	EFO	Neuromuscular disease with dilated cardiomyopathy	Emery-Dreifuss muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	572486	\N	\N	EFO	2	EFO	Muscular dystrophy	Emery-Dreifuss muscular dystrophy
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	572487	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Emery-Dreifuss muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	1154911	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Emery-Dreifuss muscular dystrophy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	1154912	\N	\N	EFO	3	EFO	cardiomyopathy	Emery-Dreifuss muscular dystrophy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	1154913	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Emery-Dreifuss muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	2037658	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Emery-Dreifuss muscular dystrophy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	2037659	\N	\N	EFO	4	EFO	heart disease	Emery-Dreifuss muscular dystrophy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	2037660	\N	\N	EFO	4	EFO	genetic disorder	Emery-Dreifuss muscular dystrophy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	2037661	\N	\N	EFO	4	EFO	heart disease	Emery-Dreifuss muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	3187995	\N	\N	EFO	5	EFO	muscular disease	Emery-Dreifuss muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	3187996	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Emery-Dreifuss muscular dystrophy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	3187997	\N	\N	EFO	5	EFO	cardiovascular disease	Emery-Dreifuss muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	5413142	\N	\N	EFO	7	EFO	disease	Emery-Dreifuss muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	4395110	\N	\N	EFO	6	EFO	skeletal system disease	Emery-Dreifuss muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	4395111	\N	\N	EFO	6	EFO	genetic disorder	Emery-Dreifuss muscular dystrophy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	4395112	\N	\N	EFO	6	EFO	disease	Emery-Dreifuss muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	5877120	\N	\N	EFO	8	EFO	disposition	Emery-Dreifuss muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	5413141	\N	\N	EFO	7	EFO	disease	Emery-Dreifuss muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	6470345	\N	\N	EFO	9	EFO	material property	Emery-Dreifuss muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	6848476	\N	\N	EFO	10	EFO	experimental factor	Emery-Dreifuss muscular dystrophy
Orphanet:26106	\N	\N	"" []	Orphanet:26106	"" []	75211	\N	\N	EFO	0	EFO	Familial gastric cancer	Familial gastric cancer
Orphanet:165658	Orphanet:26106	\N	"" []	Orphanet:26106	"" []	217663	\N	\N	EFO	1	EFO	Genetic gastro-esophageal disease	Familial gastric cancer
Orphanet:271835	Orphanet:26106	\N	"" []	Orphanet:26106	"" []	217664	\N	\N	EFO	1	EFO	Genetic digestive tract tumor	Familial gastric cancer
EFO:0000405	Orphanet:165658	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:26106	"" []	572488	\N	\N	EFO	2	EFO	digestive system disease	Familial gastric cancer
Orphanet:165652	Orphanet:165658	\N	"" []	Orphanet:26106	"" []	572489	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Familial gastric cancer
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:26106	"" []	572490	\N	\N	EFO	2	EFO	digestive system disease	Familial gastric cancer
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:26106	"" []	572491	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial gastric cancer
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26106	"" []	1154914	\N	\N	EFO	3	EFO	disease	Familial gastric cancer
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:26106	"" []	1154915	\N	\N	EFO	3	EFO	genetic disorder	Familial gastric cancer
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:26106	"" []	1154916	\N	\N	EFO	3	EFO	genetic disorder	Familial gastric cancer
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:26106	"" []	1154917	\N	\N	EFO	3	EFO	neoplasm	Familial gastric cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:26106	"" []	3188000	\N	\N	EFO	5	EFO	disposition	Familial gastric cancer
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26106	"" []	2037663	\N	\N	EFO	4	EFO	disease	Familial gastric cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26106	"" []	2037664	\N	\N	EFO	4	EFO	disease	Familial gastric cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:26106	"" []	4133698	\N	\N	EFO	6	EFO	material property	Familial gastric cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:26106	"" []	5182234	\N	\N	EFO	7	EFO	experimental factor	Familial gastric cancer
Orphanet:261102	\N	\N	"" []	Orphanet:261102	"" []	75212	\N	\N	EFO	0	EFO	Distal 7q11.23 microduplication syndrome	Distal 7q11.23 microduplication syndrome
Orphanet:262887	Orphanet:261102	\N	"" []	Orphanet:261102	"" []	217665	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 7	Distal 7q11.23 microduplication syndrome
Orphanet:262633	Orphanet:262887	\N	"" []	Orphanet:261102	"" []	572492	\N	\N	EFO	2	EFO	Partial duplication of chromosome 7	Distal 7q11.23 microduplication syndrome
Orphanet:98132	Orphanet:262633	\N	"" []	Orphanet:261102	"" []	1154918	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal 7q11.23 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:261102	"" []	2037665	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal 7q11.23 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:261102	"" []	3188001	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal 7q11.23 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261102	"" []	4395115	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal 7q11.23 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261102	"" []	5413145	\N	\N	EFO	7	EFO	genetic disorder	Distal 7q11.23 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261102	"" []	6149743	\N	\N	EFO	8	EFO	disease	Distal 7q11.23 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261102	"" []	6632782	\N	\N	EFO	9	EFO	disposition	Distal 7q11.23 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261102	"" []	6925664	\N	\N	EFO	10	EFO	material property	Distal 7q11.23 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261102	"" []	7099103	\N	\N	EFO	11	EFO	experimental factor	Distal 7q11.23 microduplication syndrome
Orphanet:261112	\N	\N	"" []	Orphanet:261112	"" []	75213	\N	\N	EFO	0	EFO	Monosomy 9p	Monosomy 9p
Orphanet:261929	Orphanet:261112	\N	"" []	Orphanet:261112	"" []	217666	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 9	Monosomy 9p
Orphanet:261806	Orphanet:261929	\N	"" []	Orphanet:261112	"" []	572493	\N	\N	EFO	2	EFO	Partial deletion of chromosome 9	Monosomy 9p
Orphanet:98142	Orphanet:261806	\N	"" []	Orphanet:261112	"" []	1154919	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Monosomy 9p
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261112	"" []	2037666	\N	\N	EFO	4	EFO	Autosomal monosomy	Monosomy 9p
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261112	"" []	3188002	\N	\N	EFO	5	EFO	Autosomal anomaly	Monosomy 9p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261112	"" []	4395116	\N	\N	EFO	6	EFO	Chromosomal anomaly	Monosomy 9p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261112	"" []	5413146	\N	\N	EFO	7	EFO	genetic disorder	Monosomy 9p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261112	"" []	6149744	\N	\N	EFO	8	EFO	disease	Monosomy 9p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261112	"" []	6632783	\N	\N	EFO	9	EFO	disposition	Monosomy 9p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261112	"" []	6925665	\N	\N	EFO	10	EFO	material property	Monosomy 9p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261112	"" []	7099104	\N	\N	EFO	11	EFO	experimental factor	Monosomy 9p
Orphanet:261120	\N	\N	"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." []	Orphanet:261120	"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." []	75214	\N	\N	EFO	0	EFO	14q11.2 microdeletion syndrome	14q11.2 microdeletion syndrome
Orphanet:262110	Orphanet:261120	\N	"" []	Orphanet:261120	"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." []	217667	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 14	14q11.2 microdeletion syndrome
Orphanet:98142	Orphanet:262110	\N	"" []	Orphanet:261120	"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." []	572494	\N	\N	EFO	2	EFO	Partial autosomal monosomy	14q11.2 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261120	"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." []	1154920	\N	\N	EFO	3	EFO	Autosomal monosomy	14q11.2 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261120	"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." []	2037667	\N	\N	EFO	4	EFO	Autosomal anomaly	14q11.2 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261120	"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." []	3188003	\N	\N	EFO	5	EFO	Chromosomal anomaly	14q11.2 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261120	"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." []	4395117	\N	\N	EFO	6	EFO	genetic disorder	14q11.2 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261120	"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." []	5413147	\N	\N	EFO	7	EFO	disease	14q11.2 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261120	"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." []	6149745	\N	\N	EFO	8	EFO	disposition	14q11.2 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261120	"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." []	6632784	\N	\N	EFO	9	EFO	material property	14q11.2 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261120	"14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." []	6925666	\N	\N	EFO	10	EFO	experimental factor	14q11.2 microdeletion syndrome
Orphanet:261144	\N	\N	"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." []	Orphanet:261144	"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." []	75215	\N	\N	EFO	0	EFO	14q12 microdeletion syndrome	14q12 microdeletion syndrome
Orphanet:262110	Orphanet:261144	\N	"" []	Orphanet:261144	"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." []	217668	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 14	14q12 microdeletion syndrome
Orphanet:98142	Orphanet:262110	\N	"" []	Orphanet:261144	"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." []	572495	\N	\N	EFO	2	EFO	Partial autosomal monosomy	14q12 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261144	"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." []	1154921	\N	\N	EFO	3	EFO	Autosomal monosomy	14q12 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261144	"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." []	2037668	\N	\N	EFO	4	EFO	Autosomal anomaly	14q12 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261144	"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." []	3188004	\N	\N	EFO	5	EFO	Chromosomal anomaly	14q12 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261144	"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." []	4395118	\N	\N	EFO	6	EFO	genetic disorder	14q12 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261144	"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." []	5413148	\N	\N	EFO	7	EFO	disease	14q12 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261144	"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." []	6149746	\N	\N	EFO	8	EFO	disposition	14q12 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261144	"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." []	6632785	\N	\N	EFO	9	EFO	material property	14q12 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261144	"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." []	6925667	\N	\N	EFO	10	EFO	experimental factor	14q12 microdeletion syndrome
Orphanet:261183	\N	\N	"" []	Orphanet:261183	"" []	75216	\N	\N	EFO	0	EFO	15q11.2 microdeletion syndrome	15q11.2 microdeletion syndrome
Orphanet:262119	Orphanet:261183	\N	"" []	Orphanet:261183	"" []	217669	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 15	15q11.2 microdeletion syndrome
Orphanet:98142	Orphanet:262119	\N	"" []	Orphanet:261183	"" []	572496	\N	\N	EFO	2	EFO	Partial autosomal monosomy	15q11.2 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261183	"" []	1154922	\N	\N	EFO	3	EFO	Autosomal monosomy	15q11.2 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261183	"" []	2037669	\N	\N	EFO	4	EFO	Autosomal anomaly	15q11.2 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261183	"" []	3188005	\N	\N	EFO	5	EFO	Chromosomal anomaly	15q11.2 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261183	"" []	4395119	\N	\N	EFO	6	EFO	genetic disorder	15q11.2 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261183	"" []	5413149	\N	\N	EFO	7	EFO	disease	15q11.2 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261183	"" []	6149747	\N	\N	EFO	8	EFO	disposition	15q11.2 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261183	"" []	6632786	\N	\N	EFO	9	EFO	material property	15q11.2 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261183	"" []	6925668	\N	\N	EFO	10	EFO	experimental factor	15q11.2 microdeletion syndrome
Orphanet:261190	\N	\N	"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." []	Orphanet:261190	"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." []	75217	\N	\N	EFO	0	EFO	15q14 microdeletion syndrome	15q14 microdeletion syndrome
Orphanet:262119	Orphanet:261190	\N	"" []	Orphanet:261190	"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." []	217670	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 15	15q14 microdeletion syndrome
Orphanet:98142	Orphanet:262119	\N	"" []	Orphanet:261190	"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." []	572497	\N	\N	EFO	2	EFO	Partial autosomal monosomy	15q14 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261190	"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." []	1154923	\N	\N	EFO	3	EFO	Autosomal monosomy	15q14 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261190	"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." []	2037670	\N	\N	EFO	4	EFO	Autosomal anomaly	15q14 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261190	"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." []	3188006	\N	\N	EFO	5	EFO	Chromosomal anomaly	15q14 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261190	"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." []	4395120	\N	\N	EFO	6	EFO	genetic disorder	15q14 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261190	"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." []	5413150	\N	\N	EFO	7	EFO	disease	15q14 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261190	"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." []	6149748	\N	\N	EFO	8	EFO	disposition	15q14 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261190	"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." []	6632787	\N	\N	EFO	9	EFO	material property	15q14 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261190	"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." []	6925669	\N	\N	EFO	10	EFO	experimental factor	15q14 microdeletion syndrome
Orphanet:261197	\N	\N	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	Orphanet:261197	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	75218	\N	\N	EFO	0	EFO	Proximal 16p11.2 microdeletion syndrome	Proximal 16p11.2 microdeletion syndrome
Orphanet:261956	Orphanet:261197	\N	"" []	Orphanet:261197	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	217671	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 16	Proximal 16p11.2 microdeletion syndrome
Orphanet:261826	Orphanet:261956	\N	"" []	Orphanet:261197	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	572498	\N	\N	EFO	2	EFO	Partial deletion of chromosome 16	Proximal 16p11.2 microdeletion syndrome
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:261197	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	1154924	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Proximal 16p11.2 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261197	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	2037671	\N	\N	EFO	4	EFO	Autosomal monosomy	Proximal 16p11.2 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261197	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	3188007	\N	\N	EFO	5	EFO	Autosomal anomaly	Proximal 16p11.2 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261197	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	4395121	\N	\N	EFO	6	EFO	Chromosomal anomaly	Proximal 16p11.2 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261197	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	5413151	\N	\N	EFO	7	EFO	genetic disorder	Proximal 16p11.2 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261197	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	6149749	\N	\N	EFO	8	EFO	disease	Proximal 16p11.2 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261197	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	6632788	\N	\N	EFO	9	EFO	disposition	Proximal 16p11.2 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261197	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	6925670	\N	\N	EFO	10	EFO	material property	Proximal 16p11.2 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261197	"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." []	7099105	\N	\N	EFO	11	EFO	experimental factor	Proximal 16p11.2 microdeletion syndrome
Orphanet:2612	\N	\N	"" []	Orphanet:2612	"" []	75219	\N	\N	EFO	0	EFO	Linear nevus sebaceus syndrome	Linear nevus sebaceus syndrome
Orphanet:183487	Orphanet:2612	\N	"" []	Orphanet:2612	"" []	217672	\N	\N	EFO	1	EFO	Genetic skin tumor	Linear nevus sebaceus syndrome
Orphanet:98196	Orphanet:2612	\N	"" []	Orphanet:2612	"" []	217673	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Linear nevus sebaceus syndrome
Orphanet:98588	Orphanet:2612	\N	"" []	Orphanet:2612	"" []	217674	\N	\N	EFO	1	EFO	Palpebral nevus	Linear nevus sebaceus syndrome
Orphanet:98617	Orphanet:2612	\N	"" []	Orphanet:2612	"" []	217675	\N	\N	EFO	1	EFO	Bulbar conjunctival dermoid or conjunctival dermolipoma	Linear nevus sebaceus syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:2612	"" []	572499	\N	\N	EFO	2	EFO	skin neoplasm	Linear nevus sebaceus syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:2612	"" []	572500	\N	\N	EFO	2	EFO	Rare genetic tumor	Linear nevus sebaceus syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:2612	"" []	572501	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Linear nevus sebaceus syndrome
Orphanet:98586	Orphanet:98588	\N	"" []	Orphanet:2612	"" []	572502	\N	\N	EFO	2	EFO	Pigmented palpebral tumor	Linear nevus sebaceus syndrome
Orphanet:98616	Orphanet:98617	\N	"" []	Orphanet:2612	"" []	572503	\N	\N	EFO	2	EFO	Conjunctival tumor	Linear nevus sebaceus syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2612	"" []	1154925	\N	\N	EFO	3	EFO	neoplasm	Linear nevus sebaceus syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2612	"" []	1154926	\N	\N	EFO	3	EFO	skin disease	Linear nevus sebaceus syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2612	"" []	1154927	\N	\N	EFO	3	EFO	genetic disorder	Linear nevus sebaceus syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2612	"" []	1154928	\N	\N	EFO	3	EFO	neoplasm	Linear nevus sebaceus syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2612	"" []	1154929	\N	\N	EFO	3	EFO	genetic disorder	Linear nevus sebaceus syndrome
Orphanet:98580	Orphanet:98586	\N	"" []	Orphanet:2612	"" []	1154930	\N	\N	EFO	3	EFO	Palpebral tumor	Linear nevus sebaceus syndrome
Orphanet:98610	Orphanet:98616	\N	"" []	Orphanet:2612	"" []	1154931	\N	\N	EFO	3	EFO	Rare conjunctival disease	Linear nevus sebaceus syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2612	"" []	2037672	\N	\N	EFO	4	EFO	disease	Linear nevus sebaceus syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2612	"" []	2037673	\N	\N	EFO	4	EFO	disease	Linear nevus sebaceus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2612	"" []	5997592	\N	\N	EFO	8	EFO	disease	Linear nevus sebaceus syndrome
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:2612	"" []	2037675	\N	\N	EFO	4	EFO	Rare palpebral disease	Linear nevus sebaceus syndrome
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:2612	"" []	2037676	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Linear nevus sebaceus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2612	"" []	6378890	\N	\N	EFO	9	EFO	disposition	Linear nevus sebaceus syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2612	"" []	3188009	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Linear nevus sebaceus syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2612	"" []	4395123	\N	\N	EFO	6	EFO	Rare genetic eye disease	Linear nevus sebaceus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2612	"" []	6778685	\N	\N	EFO	10	EFO	material property	Linear nevus sebaceus syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2612	"" []	5182235	\N	\N	EFO	7	EFO	genetic disorder	Linear nevus sebaceus syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2612	"" []	5182236	\N	\N	EFO	7	EFO	eye disease	Linear nevus sebaceus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2612	"" []	7029888	\N	\N	EFO	11	EFO	experimental factor	Linear nevus sebaceus syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2612	"" []	5997593	\N	\N	EFO	8	EFO	disease	Linear nevus sebaceus syndrome
Orphanet:261204	\N	\N	"" []	Orphanet:261204	"" []	75220	\N	\N	EFO	0	EFO	16p11.2p12.2 microduplication syndrome	16p11.2p12.2 microduplication syndrome
Orphanet:262794	Orphanet:261204	\N	"" []	Orphanet:261204	"" []	217676	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 16	16p11.2p12.2 microduplication syndrome
Orphanet:262672	Orphanet:262794	\N	"" []	Orphanet:261204	"" []	572504	\N	\N	EFO	2	EFO	Partial duplication of chromosome 16	16p11.2p12.2 microduplication syndrome
Orphanet:98132	Orphanet:262672	\N	"" []	Orphanet:261204	"" []	1154932	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	16p11.2p12.2 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:261204	"" []	2037677	\N	\N	EFO	4	EFO	Autosomal trisomy	16p11.2p12.2 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:261204	"" []	3188011	\N	\N	EFO	5	EFO	Autosomal anomaly	16p11.2p12.2 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261204	"" []	4395126	\N	\N	EFO	6	EFO	Chromosomal anomaly	16p11.2p12.2 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261204	"" []	5413155	\N	\N	EFO	7	EFO	genetic disorder	16p11.2p12.2 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261204	"" []	6149750	\N	\N	EFO	8	EFO	disease	16p11.2p12.2 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261204	"" []	6632789	\N	\N	EFO	9	EFO	disposition	16p11.2p12.2 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261204	"" []	6925671	\N	\N	EFO	10	EFO	material property	16p11.2p12.2 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261204	"" []	7099106	\N	\N	EFO	11	EFO	experimental factor	16p11.2p12.2 microduplication syndrome
Orphanet:261211	\N	\N	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	Orphanet:261211	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	75221	\N	\N	EFO	0	EFO	16p11.2p12.2 microdeletion syndrome	16p11.2p12.2 microdeletion syndrome
Orphanet:261956	Orphanet:261211	\N	"" []	Orphanet:261211	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	217677	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 16	16p11.2p12.2 microdeletion syndrome
Orphanet:261826	Orphanet:261956	\N	"" []	Orphanet:261211	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	572505	\N	\N	EFO	2	EFO	Partial deletion of chromosome 16	16p11.2p12.2 microdeletion syndrome
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:261211	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	1154933	\N	\N	EFO	3	EFO	Partial autosomal monosomy	16p11.2p12.2 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261211	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	2037678	\N	\N	EFO	4	EFO	Autosomal monosomy	16p11.2p12.2 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261211	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	3188012	\N	\N	EFO	5	EFO	Autosomal anomaly	16p11.2p12.2 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261211	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	4395127	\N	\N	EFO	6	EFO	Chromosomal anomaly	16p11.2p12.2 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261211	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	5413156	\N	\N	EFO	7	EFO	genetic disorder	16p11.2p12.2 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261211	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	6149751	\N	\N	EFO	8	EFO	disease	16p11.2p12.2 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261211	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	6632790	\N	\N	EFO	9	EFO	disposition	16p11.2p12.2 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261211	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	6925672	\N	\N	EFO	10	EFO	material property	16p11.2p12.2 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261211	"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	7099107	\N	\N	EFO	11	EFO	experimental factor	16p11.2p12.2 microdeletion syndrome
Orphanet:261222	\N	\N	"" []	Orphanet:261222	"" []	75222	\N	\N	EFO	0	EFO	Distal 16p11.2 microdeletion syndrome	Distal 16p11.2 microdeletion syndrome
Orphanet:240371	Orphanet:261222	\N	"" []	Orphanet:261222	"" []	217678	\N	\N	EFO	1	EFO	Syndromic obesity	Distal 16p11.2 microdeletion syndrome
Orphanet:261956	Orphanet:261222	\N	"" []	Orphanet:261222	"" []	217679	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 16	Distal 16p11.2 microdeletion syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:261222	"" []	572506	\N	\N	EFO	2	EFO	Genetic obesity	Distal 16p11.2 microdeletion syndrome
Orphanet:261826	Orphanet:261956	\N	"" []	Orphanet:261222	"" []	572507	\N	\N	EFO	2	EFO	Partial deletion of chromosome 16	Distal 16p11.2 microdeletion syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:261222	"" []	1154934	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Distal 16p11.2 microdeletion syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:261222	"" []	1154935	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Distal 16p11.2 microdeletion syndrome
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:261222	"" []	1154936	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal 16p11.2 microdeletion syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261222	"" []	2037679	\N	\N	EFO	4	EFO	genetic disorder	Distal 16p11.2 microdeletion syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:261222	"" []	2037680	\N	\N	EFO	4	EFO	endocrine system disease	Distal 16p11.2 microdeletion syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:261222	"" []	2037681	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Distal 16p11.2 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261222	"" []	2037682	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal 16p11.2 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261222	"" []	6149753	\N	\N	EFO	8	EFO	disease	Distal 16p11.2 microdeletion syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261222	"" []	3188014	\N	\N	EFO	5	EFO	disease	Distal 16p11.2 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261222	"" []	3188015	\N	\N	EFO	5	EFO	genetic disorder	Distal 16p11.2 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261222	"" []	3188016	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal 16p11.2 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261222	"" []	6410025	\N	\N	EFO	9	EFO	disposition	Distal 16p11.2 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261222	"" []	4395130	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal 16p11.2 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261222	"" []	6807870	\N	\N	EFO	10	EFO	material property	Distal 16p11.2 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261222	"" []	5413158	\N	\N	EFO	7	EFO	genetic disorder	Distal 16p11.2 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261222	"" []	7048635	\N	\N	EFO	11	EFO	experimental factor	Distal 16p11.2 microdeletion syndrome
Orphanet:261229	\N	\N	"" []	Orphanet:261229	"" []	75223	\N	\N	EFO	0	EFO	14q11.2 microduplication syndrome	14q11.2 microduplication syndrome
Orphanet:262941	Orphanet:261229	\N	"" []	Orphanet:261229	"" []	217680	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 14	14q11.2 microduplication syndrome
Orphanet:98132	Orphanet:262941	\N	"" []	Orphanet:261229	"" []	572508	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	14q11.2 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:261229	"" []	1154937	\N	\N	EFO	3	EFO	Autosomal trisomy	14q11.2 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:261229	"" []	2037683	\N	\N	EFO	4	EFO	Autosomal anomaly	14q11.2 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261229	"" []	3188017	\N	\N	EFO	5	EFO	Chromosomal anomaly	14q11.2 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261229	"" []	4395131	\N	\N	EFO	6	EFO	genetic disorder	14q11.2 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261229	"" []	5413159	\N	\N	EFO	7	EFO	disease	14q11.2 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261229	"" []	6149754	\N	\N	EFO	8	EFO	disposition	14q11.2 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261229	"" []	6632791	\N	\N	EFO	9	EFO	material property	14q11.2 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261229	"" []	6925673	\N	\N	EFO	10	EFO	experimental factor	14q11.2 microduplication syndrome
Orphanet:261236	\N	\N	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	Orphanet:261236	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	75224	\N	\N	EFO	0	EFO	16p13.11 microdeletion syndrome	16p13.11 microdeletion syndrome
Orphanet:261956	Orphanet:261236	\N	"" []	Orphanet:261236	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	217681	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 16	16p13.11 microdeletion syndrome
Orphanet:261826	Orphanet:261956	\N	"" []	Orphanet:261236	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	572509	\N	\N	EFO	2	EFO	Partial deletion of chromosome 16	16p13.11 microdeletion syndrome
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:261236	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	1154938	\N	\N	EFO	3	EFO	Partial autosomal monosomy	16p13.11 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261236	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	2037684	\N	\N	EFO	4	EFO	Autosomal monosomy	16p13.11 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261236	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	3188018	\N	\N	EFO	5	EFO	Autosomal anomaly	16p13.11 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261236	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	4395132	\N	\N	EFO	6	EFO	Chromosomal anomaly	16p13.11 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261236	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	5413160	\N	\N	EFO	7	EFO	genetic disorder	16p13.11 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261236	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	6149755	\N	\N	EFO	8	EFO	disease	16p13.11 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261236	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	6632792	\N	\N	EFO	9	EFO	disposition	16p13.11 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261236	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	6925674	\N	\N	EFO	10	EFO	material property	16p13.11 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261236	"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." []	7099108	\N	\N	EFO	11	EFO	experimental factor	16p13.11 microdeletion syndrome
Orphanet:261243	\N	\N	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	Orphanet:261243	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	75225	\N	\N	EFO	0	EFO	16p13.11 microduplication syndrome	16p13.11 microduplication syndrome
Orphanet:262794	Orphanet:261243	\N	"" []	Orphanet:261243	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	217682	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 16	16p13.11 microduplication syndrome
Orphanet:262672	Orphanet:262794	\N	"" []	Orphanet:261243	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	572510	\N	\N	EFO	2	EFO	Partial duplication of chromosome 16	16p13.11 microduplication syndrome
Orphanet:98132	Orphanet:262672	\N	"" []	Orphanet:261243	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	1154939	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	16p13.11 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:261243	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	2037685	\N	\N	EFO	4	EFO	Autosomal trisomy	16p13.11 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:261243	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	3188019	\N	\N	EFO	5	EFO	Autosomal anomaly	16p13.11 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261243	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	4395133	\N	\N	EFO	6	EFO	Chromosomal anomaly	16p13.11 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261243	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	5413161	\N	\N	EFO	7	EFO	genetic disorder	16p13.11 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261243	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	6149756	\N	\N	EFO	8	EFO	disease	16p13.11 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261243	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	6632793	\N	\N	EFO	9	EFO	disposition	16p13.11 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261243	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	6925675	\N	\N	EFO	10	EFO	material property	16p13.11 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261243	"16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." []	7099109	\N	\N	EFO	11	EFO	experimental factor	16p13.11 microduplication syndrome
Orphanet:261250	\N	\N	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	Orphanet:261250	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	75226	\N	\N	EFO	0	EFO	16q24.3 microdeletion syndrome	16q24.3 microdeletion syndrome
Orphanet:262128	Orphanet:261250	\N	"" []	Orphanet:261250	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	217683	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 16	16q24.3 microdeletion syndrome
Orphanet:261826	Orphanet:262128	\N	"" []	Orphanet:261250	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	572511	\N	\N	EFO	2	EFO	Partial deletion of chromosome 16	16q24.3 microdeletion syndrome
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:261250	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	1154940	\N	\N	EFO	3	EFO	Partial autosomal monosomy	16q24.3 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261250	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	2037686	\N	\N	EFO	4	EFO	Autosomal monosomy	16q24.3 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261250	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	3188020	\N	\N	EFO	5	EFO	Autosomal anomaly	16q24.3 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261250	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	4395134	\N	\N	EFO	6	EFO	Chromosomal anomaly	16q24.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261250	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	5413162	\N	\N	EFO	7	EFO	genetic disorder	16q24.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261250	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	6149757	\N	\N	EFO	8	EFO	disease	16q24.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261250	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	6632794	\N	\N	EFO	9	EFO	disposition	16q24.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261250	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	6925676	\N	\N	EFO	10	EFO	material property	16q24.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261250	"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." []	7099110	\N	\N	EFO	11	EFO	experimental factor	16q24.3 microdeletion syndrome
Orphanet:261257	\N	\N	"" []	Orphanet:261257	"" []	75227	\N	\N	EFO	0	EFO	Distal 17p13.3 microdeletion syndrome	Distal 17p13.3 microdeletion syndrome
Orphanet:261965	Orphanet:261257	\N	"" []	Orphanet:261257	"" []	217684	\N	\N	EFO	1	EFO	Partial monosomy of the short arm of chromosome 17	Distal 17p13.3 microdeletion syndrome
Orphanet:261831	Orphanet:261965	\N	"" []	Orphanet:261257	"" []	572512	\N	\N	EFO	2	EFO	Partial deletion of chromosome 17	Distal 17p13.3 microdeletion syndrome
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:261257	"" []	1154941	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal 17p13.3 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261257	"" []	2037687	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal 17p13.3 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261257	"" []	3188021	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal 17p13.3 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261257	"" []	4395135	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal 17p13.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261257	"" []	5413163	\N	\N	EFO	7	EFO	genetic disorder	Distal 17p13.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261257	"" []	6149758	\N	\N	EFO	8	EFO	disease	Distal 17p13.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261257	"" []	6632795	\N	\N	EFO	9	EFO	disposition	Distal 17p13.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261257	"" []	6925677	\N	\N	EFO	10	EFO	material property	Distal 17p13.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261257	"" []	7099111	\N	\N	EFO	11	EFO	experimental factor	Distal 17p13.3 microdeletion syndrome
Orphanet:261265	\N	\N	"" []	Orphanet:261265	"" []	75228	\N	\N	EFO	0	EFO	17q12 microdeletion syndrome	17q12 microdeletion syndrome
Orphanet:262137	Orphanet:261265	\N	"" []	Orphanet:261265	"" []	217685	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 17	17q12 microdeletion syndrome
Orphanet:261831	Orphanet:262137	\N	"" []	Orphanet:261265	"" []	572513	\N	\N	EFO	2	EFO	Partial deletion of chromosome 17	17q12 microdeletion syndrome
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:261265	"" []	1154942	\N	\N	EFO	3	EFO	Partial autosomal monosomy	17q12 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261265	"" []	2037688	\N	\N	EFO	4	EFO	Autosomal monosomy	17q12 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261265	"" []	3188022	\N	\N	EFO	5	EFO	Autosomal anomaly	17q12 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261265	"" []	4395136	\N	\N	EFO	6	EFO	Chromosomal anomaly	17q12 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261265	"" []	5413164	\N	\N	EFO	7	EFO	genetic disorder	17q12 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261265	"" []	6149759	\N	\N	EFO	8	EFO	disease	17q12 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261265	"" []	6632796	\N	\N	EFO	9	EFO	disposition	17q12 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261265	"" []	6925678	\N	\N	EFO	10	EFO	material property	17q12 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261265	"" []	7099112	\N	\N	EFO	11	EFO	experimental factor	17q12 microdeletion syndrome
Orphanet:261272	\N	\N	"" []	Orphanet:261272	"" []	75229	\N	\N	EFO	0	EFO	17q12 microduplication syndrome	17q12 microduplication syndrome
Orphanet:262968	Orphanet:261272	\N	"" []	Orphanet:261272	"" []	217686	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 17	17q12 microduplication syndrome
Orphanet:262677	Orphanet:262968	\N	"" []	Orphanet:261272	"" []	572514	\N	\N	EFO	2	EFO	Partial duplication of chromosome 17	17q12 microduplication syndrome
Orphanet:98132	Orphanet:262677	\N	"" []	Orphanet:261272	"" []	1154943	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	17q12 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:261272	"" []	2037689	\N	\N	EFO	4	EFO	Autosomal trisomy	17q12 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:261272	"" []	3188023	\N	\N	EFO	5	EFO	Autosomal anomaly	17q12 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261272	"" []	4395137	\N	\N	EFO	6	EFO	Chromosomal anomaly	17q12 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261272	"" []	5413165	\N	\N	EFO	7	EFO	genetic disorder	17q12 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261272	"" []	6149760	\N	\N	EFO	8	EFO	disease	17q12 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261272	"" []	6632797	\N	\N	EFO	9	EFO	disposition	17q12 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261272	"" []	6925679	\N	\N	EFO	10	EFO	material property	17q12 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261272	"" []	7099113	\N	\N	EFO	11	EFO	experimental factor	17q12 microduplication syndrome
Orphanet:261279	\N	\N	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	Orphanet:261279	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	75230	\N	\N	EFO	0	EFO	17q23.1q23.2 microdeletion syndrome	17q23.1q23.2 microdeletion syndrome
Orphanet:262137	Orphanet:261279	\N	"" []	Orphanet:261279	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	217687	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 17	17q23.1q23.2 microdeletion syndrome
Orphanet:261831	Orphanet:262137	\N	"" []	Orphanet:261279	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	572515	\N	\N	EFO	2	EFO	Partial deletion of chromosome 17	17q23.1q23.2 microdeletion syndrome
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:261279	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	1154944	\N	\N	EFO	3	EFO	Partial autosomal monosomy	17q23.1q23.2 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261279	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	2037690	\N	\N	EFO	4	EFO	Autosomal monosomy	17q23.1q23.2 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261279	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	3188024	\N	\N	EFO	5	EFO	Autosomal anomaly	17q23.1q23.2 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261279	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	4395138	\N	\N	EFO	6	EFO	Chromosomal anomaly	17q23.1q23.2 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261279	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	5413166	\N	\N	EFO	7	EFO	genetic disorder	17q23.1q23.2 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261279	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	6149761	\N	\N	EFO	8	EFO	disease	17q23.1q23.2 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261279	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	6632798	\N	\N	EFO	9	EFO	disposition	17q23.1q23.2 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261279	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	6925680	\N	\N	EFO	10	EFO	material property	17q23.1q23.2 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261279	"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." []	7099114	\N	\N	EFO	11	EFO	experimental factor	17q23.1q23.2 microdeletion syndrome
Orphanet:261290	\N	\N	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	Orphanet:261290	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	75231	\N	\N	EFO	0	EFO	Trisomy 17p	Trisomy 17p
Orphanet:262803	Orphanet:261290	\N	"" []	Orphanet:261290	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	217688	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 17	Trisomy 17p
Orphanet:262677	Orphanet:262803	\N	"" []	Orphanet:261290	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	572516	\N	\N	EFO	2	EFO	Partial duplication of chromosome 17	Trisomy 17p
Orphanet:98132	Orphanet:262677	\N	"" []	Orphanet:261290	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	1154945	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Trisomy 17p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:261290	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	2037691	\N	\N	EFO	4	EFO	Autosomal trisomy	Trisomy 17p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:261290	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	3188025	\N	\N	EFO	5	EFO	Autosomal anomaly	Trisomy 17p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261290	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	4395139	\N	\N	EFO	6	EFO	Chromosomal anomaly	Trisomy 17p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261290	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	5413167	\N	\N	EFO	7	EFO	genetic disorder	Trisomy 17p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261290	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	6149762	\N	\N	EFO	8	EFO	disease	Trisomy 17p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261290	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	6632799	\N	\N	EFO	9	EFO	disposition	Trisomy 17p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261290	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	6925681	\N	\N	EFO	10	EFO	material property	Trisomy 17p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261290	"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." []	7099115	\N	\N	EFO	11	EFO	experimental factor	Trisomy 17p
Orphanet:261295	\N	\N	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	Orphanet:261295	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	75232	\N	\N	EFO	0	EFO	20p12.3 microdeletion syndrome	20p12.3 microdeletion syndrome
Orphanet:261992	Orphanet:261295	\N	"" []	Orphanet:261295	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	217689	\N	\N	EFO	1	EFO	Partial monosomy of the short arm of chromosome 20	20p12.3 microdeletion syndrome
Orphanet:261846	Orphanet:261992	\N	"" []	Orphanet:261295	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	572517	\N	\N	EFO	2	EFO	Partial deletion of chromosome 20	20p12.3 microdeletion syndrome
Orphanet:98142	Orphanet:261846	\N	"" []	Orphanet:261295	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	1154946	\N	\N	EFO	3	EFO	Partial autosomal monosomy	20p12.3 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261295	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	2037692	\N	\N	EFO	4	EFO	Autosomal monosomy	20p12.3 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261295	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	3188026	\N	\N	EFO	5	EFO	Autosomal anomaly	20p12.3 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261295	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	4395140	\N	\N	EFO	6	EFO	Chromosomal anomaly	20p12.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261295	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	5413168	\N	\N	EFO	7	EFO	genetic disorder	20p12.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261295	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	6149763	\N	\N	EFO	8	EFO	disease	20p12.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261295	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	6632800	\N	\N	EFO	9	EFO	disposition	20p12.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261295	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	6925682	\N	\N	EFO	10	EFO	material property	20p12.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261295	"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." []	7099116	\N	\N	EFO	11	EFO	experimental factor	20p12.3 microdeletion syndrome
Orphanet:2613	\N	\N	"" []	Orphanet:2613	"" []	75233	\N	\N	EFO	0	EFO	Nail-patella-like renal disease	Nail-patella-like renal disease
Orphanet:102373	Orphanet:2613	\N	"" []	Orphanet:2613	"" []	217690	\N	\N	EFO	1	EFO	Primary glomerular disease	Nail-patella-like renal disease
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:2613	"" []	572518	\N	\N	EFO	2	EFO	Genetic glomerular disease	Nail-patella-like renal disease
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:2613	"" []	1154947	\N	\N	EFO	3	EFO	Rare genetic renal disease	Nail-patella-like renal disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2613	"" []	2037693	\N	\N	EFO	4	EFO	genetic disorder	Nail-patella-like renal disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2613	"" []	3188027	\N	\N	EFO	5	EFO	disease	Nail-patella-like renal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2613	"" []	4395141	\N	\N	EFO	6	EFO	disposition	Nail-patella-like renal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2613	"" []	5413169	\N	\N	EFO	7	EFO	material property	Nail-patella-like renal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2613	"" []	6149764	\N	\N	EFO	8	EFO	experimental factor	Nail-patella-like renal disease
Orphanet:261304	\N	\N	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	Orphanet:261304	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	75234	\N	\N	EFO	0	EFO	Paternal 20q13.2q13.3 microdeletion syndrome	Paternal 20q13.2q13.3 microdeletion syndrome
Orphanet:262164	Orphanet:261304	\N	"" []	Orphanet:261304	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	217691	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 20	Paternal 20q13.2q13.3 microdeletion syndrome
Orphanet:261846	Orphanet:262164	\N	"" []	Orphanet:261304	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	572519	\N	\N	EFO	2	EFO	Partial deletion of chromosome 20	Paternal 20q13.2q13.3 microdeletion syndrome
Orphanet:98142	Orphanet:261846	\N	"" []	Orphanet:261304	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	1154948	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Paternal 20q13.2q13.3 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261304	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	2037694	\N	\N	EFO	4	EFO	Autosomal monosomy	Paternal 20q13.2q13.3 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261304	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	3188028	\N	\N	EFO	5	EFO	Autosomal anomaly	Paternal 20q13.2q13.3 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261304	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	4395142	\N	\N	EFO	6	EFO	Chromosomal anomaly	Paternal 20q13.2q13.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261304	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	5413170	\N	\N	EFO	7	EFO	genetic disorder	Paternal 20q13.2q13.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261304	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	6149765	\N	\N	EFO	8	EFO	disease	Paternal 20q13.2q13.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261304	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	6632801	\N	\N	EFO	9	EFO	disposition	Paternal 20q13.2q13.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261304	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	6925683	\N	\N	EFO	10	EFO	material property	Paternal 20q13.2q13.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261304	"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." []	7099117	\N	\N	EFO	11	EFO	experimental factor	Paternal 20q13.2q13.3 microdeletion syndrome
Orphanet:261311	\N	\N	"" []	Orphanet:261311	"" []	75235	\N	\N	EFO	0	EFO	20q13.33 microdeletion syndrome	20q13.33 microdeletion syndrome
Orphanet:262164	Orphanet:261311	\N	"" []	Orphanet:261311	"" []	217692	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 20	20q13.33 microdeletion syndrome
Orphanet:261846	Orphanet:262164	\N	"" []	Orphanet:261311	"" []	572520	\N	\N	EFO	2	EFO	Partial deletion of chromosome 20	20q13.33 microdeletion syndrome
Orphanet:98142	Orphanet:261846	\N	"" []	Orphanet:261311	"" []	1154949	\N	\N	EFO	3	EFO	Partial autosomal monosomy	20q13.33 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261311	"" []	2037695	\N	\N	EFO	4	EFO	Autosomal monosomy	20q13.33 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261311	"" []	3188029	\N	\N	EFO	5	EFO	Autosomal anomaly	20q13.33 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261311	"" []	4395143	\N	\N	EFO	6	EFO	Chromosomal anomaly	20q13.33 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261311	"" []	5413171	\N	\N	EFO	7	EFO	genetic disorder	20q13.33 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261311	"" []	6149766	\N	\N	EFO	8	EFO	disease	20q13.33 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261311	"" []	6632802	\N	\N	EFO	9	EFO	disposition	20q13.33 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261311	"" []	6925684	\N	\N	EFO	10	EFO	material property	20q13.33 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261311	"" []	7099118	\N	\N	EFO	11	EFO	experimental factor	20q13.33 microdeletion syndrome
Orphanet:261318	\N	\N	"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." []	Orphanet:261318	"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." []	75236	\N	\N	EFO	0	EFO	Trisomy 20p	Trisomy 20p
Orphanet:262692	Orphanet:261318	\N	"" []	Orphanet:261318	"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." []	217693	\N	\N	EFO	1	EFO	Partial trisomy of chromosome 20	Trisomy 20p
Orphanet:98132	Orphanet:262692	\N	"" []	Orphanet:261318	"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." []	572521	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Trisomy 20p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:261318	"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." []	1154950	\N	\N	EFO	3	EFO	Autosomal trisomy	Trisomy 20p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:261318	"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." []	2037696	\N	\N	EFO	4	EFO	Autosomal anomaly	Trisomy 20p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261318	"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." []	3188030	\N	\N	EFO	5	EFO	Chromosomal anomaly	Trisomy 20p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261318	"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." []	4395144	\N	\N	EFO	6	EFO	genetic disorder	Trisomy 20p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261318	"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." []	5413172	\N	\N	EFO	7	EFO	disease	Trisomy 20p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261318	"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." []	6149767	\N	\N	EFO	8	EFO	disposition	Trisomy 20p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261318	"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." []	6632803	\N	\N	EFO	9	EFO	material property	Trisomy 20p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261318	"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." []	6925685	\N	\N	EFO	10	EFO	experimental factor	Trisomy 20p
Orphanet:261323	\N	\N	"" []	Orphanet:261323	"" []	75237	\N	\N	EFO	0	EFO	21q22.11q22.12 microdeletion syndrome	21q22.11q22.12 microdeletion syndrome
Orphanet:262173	Orphanet:261323	\N	"" []	Orphanet:261323	"" []	217694	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 21	21q22.11q22.12 microdeletion syndrome
Orphanet:98142	Orphanet:262173	\N	"" []	Orphanet:261323	"" []	572522	\N	\N	EFO	2	EFO	Partial autosomal monosomy	21q22.11q22.12 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261323	"" []	1154951	\N	\N	EFO	3	EFO	Autosomal monosomy	21q22.11q22.12 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261323	"" []	2037697	\N	\N	EFO	4	EFO	Autosomal anomaly	21q22.11q22.12 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261323	"" []	3188031	\N	\N	EFO	5	EFO	Chromosomal anomaly	21q22.11q22.12 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261323	"" []	4395145	\N	\N	EFO	6	EFO	genetic disorder	21q22.11q22.12 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261323	"" []	5413173	\N	\N	EFO	7	EFO	disease	21q22.11q22.12 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261323	"" []	6149768	\N	\N	EFO	8	EFO	disposition	21q22.11q22.12 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261323	"" []	6632804	\N	\N	EFO	9	EFO	material property	21q22.11q22.12 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261323	"" []	6925686	\N	\N	EFO	10	EFO	experimental factor	21q22.11q22.12 microdeletion syndrome
Orphanet:261330	\N	\N	"" []	Orphanet:261330	"" []	75238	\N	\N	EFO	0	EFO	Distal 22q11.2 microdeletion syndrome	Distal 22q11.2 microdeletion syndrome
Orphanet:262182	Orphanet:261330	\N	"" []	Orphanet:261330	"" []	217695	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 22	Distal 22q11.2 microdeletion syndrome
Orphanet:98142	Orphanet:262182	\N	"" []	Orphanet:261330	"" []	572523	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Distal 22q11.2 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261330	"" []	1154952	\N	\N	EFO	3	EFO	Autosomal monosomy	Distal 22q11.2 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261330	"" []	2037698	\N	\N	EFO	4	EFO	Autosomal anomaly	Distal 22q11.2 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261330	"" []	3188032	\N	\N	EFO	5	EFO	Chromosomal anomaly	Distal 22q11.2 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261330	"" []	4395146	\N	\N	EFO	6	EFO	genetic disorder	Distal 22q11.2 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261330	"" []	5413174	\N	\N	EFO	7	EFO	disease	Distal 22q11.2 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261330	"" []	6149769	\N	\N	EFO	8	EFO	disposition	Distal 22q11.2 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261330	"" []	6632805	\N	\N	EFO	9	EFO	material property	Distal 22q11.2 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261330	"" []	6925687	\N	\N	EFO	10	EFO	experimental factor	Distal 22q11.2 microdeletion syndrome
Orphanet:261337	\N	\N	"" []	Orphanet:261337	"" []	75239	\N	\N	EFO	0	EFO	Distal 22q11.2 microduplication syndrome	Distal 22q11.2 microduplication syndrome
Orphanet:263004	Orphanet:261337	\N	"" []	Orphanet:261337	"" []	217696	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 22	Distal 22q11.2 microduplication syndrome
Orphanet:98132	Orphanet:263004	\N	"" []	Orphanet:261337	"" []	572524	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Distal 22q11.2 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:261337	"" []	1154953	\N	\N	EFO	3	EFO	Autosomal trisomy	Distal 22q11.2 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:261337	"" []	2037699	\N	\N	EFO	4	EFO	Autosomal anomaly	Distal 22q11.2 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261337	"" []	3188033	\N	\N	EFO	5	EFO	Chromosomal anomaly	Distal 22q11.2 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261337	"" []	4395147	\N	\N	EFO	6	EFO	genetic disorder	Distal 22q11.2 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261337	"" []	5413175	\N	\N	EFO	7	EFO	disease	Distal 22q11.2 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261337	"" []	6149770	\N	\N	EFO	8	EFO	disposition	Distal 22q11.2 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261337	"" []	6632806	\N	\N	EFO	9	EFO	material property	Distal 22q11.2 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261337	"" []	6925688	\N	\N	EFO	10	EFO	experimental factor	Distal 22q11.2 microduplication syndrome
Orphanet:261344	\N	\N	"" []	Orphanet:261344	"" []	75240	\N	\N	EFO	0	EFO	Trisomy 1q	Trisomy 1q
Orphanet:262833	Orphanet:261344	\N	"" []	Orphanet:261344	"" []	217697	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 1	Trisomy 1q
Orphanet:262191	Orphanet:262833	\N	"" []	Orphanet:261344	"" []	572525	\N	\N	EFO	2	EFO	Partial duplication of chromosome 1	Trisomy 1q
Orphanet:98132	Orphanet:262191	\N	"" []	Orphanet:261344	"" []	1154954	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Trisomy 1q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:261344	"" []	2037700	\N	\N	EFO	4	EFO	Autosomal trisomy	Trisomy 1q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:261344	"" []	3188034	\N	\N	EFO	5	EFO	Autosomal anomaly	Trisomy 1q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261344	"" []	4395148	\N	\N	EFO	6	EFO	Chromosomal anomaly	Trisomy 1q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261344	"" []	5413176	\N	\N	EFO	7	EFO	genetic disorder	Trisomy 1q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261344	"" []	6149771	\N	\N	EFO	8	EFO	disease	Trisomy 1q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261344	"" []	6632807	\N	\N	EFO	9	EFO	disposition	Trisomy 1q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261344	"" []	6925689	\N	\N	EFO	10	EFO	material property	Trisomy 1q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261344	"" []	7099119	\N	\N	EFO	11	EFO	experimental factor	Trisomy 1q
Orphanet:261349	\N	\N	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	Orphanet:261349	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	75241	\N	\N	EFO	0	EFO	2p15p16.1 microdeletion syndrome	2p15p16.1 microdeletion syndrome
Orphanet:261866	Orphanet:261349	\N	"" []	Orphanet:261349	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	217698	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 2	2p15p16.1 microdeletion syndrome
Orphanet:261771	Orphanet:261866	\N	"" []	Orphanet:261349	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	572526	\N	\N	EFO	2	EFO	Partial deletion of chromosome 2	2p15p16.1 microdeletion syndrome
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:261349	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	1154955	\N	\N	EFO	3	EFO	Partial autosomal monosomy	2p15p16.1 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261349	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	2037701	\N	\N	EFO	4	EFO	Autosomal monosomy	2p15p16.1 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261349	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	3188035	\N	\N	EFO	5	EFO	Autosomal anomaly	2p15p16.1 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261349	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	4395149	\N	\N	EFO	6	EFO	Chromosomal anomaly	2p15p16.1 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261349	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	5413177	\N	\N	EFO	7	EFO	genetic disorder	2p15p16.1 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261349	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	6149772	\N	\N	EFO	8	EFO	disease	2p15p16.1 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261349	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	6632808	\N	\N	EFO	9	EFO	disposition	2p15p16.1 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261349	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	6925690	\N	\N	EFO	10	EFO	material property	2p15p16.1 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261349	"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." []	7099120	\N	\N	EFO	11	EFO	experimental factor	2p15p16.1 microdeletion syndrome
Orphanet:2614	\N	\N	"" []	Orphanet:2614	"" []	75242	\N	\N	EFO	0	EFO	Nail-patella syndrome	Nail-patella syndrome
Orphanet:102373	Orphanet:2614	\N	"" []	Orphanet:2614	"" []	217699	\N	\N	EFO	1	EFO	Primary glomerular disease	Nail-patella syndrome
Orphanet:79370	Orphanet:2614	\N	"" []	Orphanet:2614	"" []	217700	\N	\N	EFO	1	EFO	Syndromic nail anomaly	Nail-patella syndrome
Orphanet:93455	Orphanet:2614	\N	"" []	Orphanet:2614	"" []	217701	\N	\N	EFO	1	EFO	Patellar dysostosis	Nail-patella syndrome
Orphanet:98704	Orphanet:2614	\N	"" []	Orphanet:2614	"" []	217702	\N	\N	EFO	1	EFO	Onycho-patellar syndrome with eye involvement	Nail-patella syndrome
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:2614	"" []	572527	\N	\N	EFO	2	EFO	Genetic glomerular disease	Nail-patella syndrome
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:2614	"" []	572528	\N	\N	EFO	2	EFO	Genetic nail anomaly	Nail-patella syndrome
Orphanet:404568	Orphanet:93455	\N	"" []	Orphanet:2614	"" []	572529	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Nail-patella syndrome
Orphanet:98696	Orphanet:98704	\N	"" []	Orphanet:2614	"" []	572530	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Nail-patella syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:2614	"" []	1154956	\N	\N	EFO	3	EFO	Rare genetic renal disease	Nail-patella syndrome
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:2614	"" []	1154957	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Nail-patella syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2614	"" []	1154958	\N	\N	EFO	3	EFO	Rare genetic bone disease	Nail-patella syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2614	"" []	1154959	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Nail-patella syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:2614	"" []	1154960	\N	\N	EFO	3	EFO	Rare genetic eye disease	Nail-patella syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2614	"" []	2037702	\N	\N	EFO	4	EFO	genetic disorder	Nail-patella syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2614	"" []	2037703	\N	\N	EFO	4	EFO	Rare genetic skin disease	Nail-patella syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2614	"" []	2037704	\N	\N	EFO	4	EFO	genetic disorder	Nail-patella syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2614	"" []	2037705	\N	\N	EFO	4	EFO	bone disease	Nail-patella syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2614	"" []	2037706	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Nail-patella syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2614	"" []	2037707	\N	\N	EFO	4	EFO	genetic disorder	Nail-patella syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2614	"" []	2037708	\N	\N	EFO	4	EFO	eye disease	Nail-patella syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2614	"" []	4395151	\N	\N	EFO	6	EFO	disease	Nail-patella syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2614	"" []	3188037	\N	\N	EFO	5	EFO	genetic disorder	Nail-patella syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2614	"" []	3188038	\N	\N	EFO	5	EFO	skin disease	Nail-patella syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2614	"" []	3188039	\N	\N	EFO	5	EFO	skeletal system disease	Nail-patella syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2614	"" []	3188040	\N	\N	EFO	5	EFO	genetic disorder	Nail-patella syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2614	"" []	3188041	\N	\N	EFO	5	EFO	disease	Nail-patella syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2614	"" []	5182238	\N	\N	EFO	7	EFO	disposition	Nail-patella syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2614	"" []	4395152	\N	\N	EFO	6	EFO	disease	Nail-patella syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2614	"" []	4395153	\N	\N	EFO	6	EFO	disease	Nail-patella syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2614	"" []	5997595	\N	\N	EFO	8	EFO	material property	Nail-patella syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2614	"" []	6550946	\N	\N	EFO	9	EFO	experimental factor	Nail-patella syndrome
Orphanet:261476	\N	\N	"" []	Orphanet:261476	"" []	75243	\N	\N	EFO	0	EFO	Monosomy Xp21	Monosomy Xp21
Orphanet:263731	Orphanet:261476	\N	"" []	Orphanet:261476	"" []	217703	\N	\N	EFO	1	EFO	Partial monosomy of the short arm of chromosome X	Monosomy Xp21
Orphanet:308993	Orphanet:261476	\N	"" []	Orphanet:261476	"" []	217704	\N	\N	EFO	1	EFO	Glycerol kinase deficiency	Monosomy Xp21
Orphanet:263726	Orphanet:263731	\N	"" []	Orphanet:261476	"" []	572531	\N	\N	EFO	2	EFO	Partial deletion of chromosome X	Monosomy Xp21
Orphanet:79179	Orphanet:308993	\N	"" []	Orphanet:261476	"" []	572532	\N	\N	EFO	2	EFO	Disorder of glycerol metabolism	Monosomy Xp21
Orphanet:98159	Orphanet:263726	\N	"" []	Orphanet:261476	"" []	1154961	\N	\N	EFO	3	EFO	Chromosome X structural anomaly	Monosomy Xp21
Orphanet:79161	Orphanet:79179	\N	"" []	Orphanet:261476	"" []	1154962	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Monosomy Xp21
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:261476	"" []	2037709	\N	\N	EFO	4	EFO	Gonosome structural anomaly	Monosomy Xp21
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:261476	"" []	2037710	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Monosomy Xp21
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:261476	"" []	3188042	\N	\N	EFO	5	EFO	Gonosome anomaly	Monosomy Xp21
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261476	"" []	3188043	\N	\N	EFO	5	EFO	genetic disorder	Monosomy Xp21
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:261476	"" []	3188044	\N	\N	EFO	5	EFO	metabolic disease	Monosomy Xp21
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:261476	"" []	4395154	\N	\N	EFO	6	EFO	Chromosomal anomaly	Monosomy Xp21
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261476	"" []	6149774	\N	\N	EFO	8	EFO	disease	Monosomy Xp21
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261476	"" []	4395156	\N	\N	EFO	6	EFO	disease	Monosomy Xp21
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261476	"" []	5413179	\N	\N	EFO	7	EFO	genetic disorder	Monosomy Xp21
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261476	"" []	6470346	\N	\N	EFO	9	EFO	disposition	Monosomy Xp21
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261476	"" []	6848477	\N	\N	EFO	10	EFO	material property	Monosomy Xp21
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261476	"" []	7068447	\N	\N	EFO	11	EFO	experimental factor	Monosomy Xp21
Orphanet:261483	\N	\N	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	Orphanet:261483	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	75244	\N	\N	EFO	0	EFO	Xq27.3q28 duplication syndrome	Xq27.3q28 duplication syndrome
Orphanet:263783	Orphanet:261483	\N	"" []	Orphanet:261483	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	217705	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome X	Xq27.3q28 duplication syndrome
Orphanet:263768	Orphanet:263783	\N	"" []	Orphanet:261483	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	572533	\N	\N	EFO	2	EFO	Partial duplication of chromosome X	Xq27.3q28 duplication syndrome
Orphanet:98159	Orphanet:263768	\N	"" []	Orphanet:261483	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	1154963	\N	\N	EFO	3	EFO	Chromosome X structural anomaly	Xq27.3q28 duplication syndrome
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:261483	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	2037711	\N	\N	EFO	4	EFO	Gonosome structural anomaly	Xq27.3q28 duplication syndrome
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:261483	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	3188045	\N	\N	EFO	5	EFO	Gonosome anomaly	Xq27.3q28 duplication syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:261483	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	4395157	\N	\N	EFO	6	EFO	Chromosomal anomaly	Xq27.3q28 duplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261483	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	5413181	\N	\N	EFO	7	EFO	genetic disorder	Xq27.3q28 duplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261483	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	6149776	\N	\N	EFO	8	EFO	disease	Xq27.3q28 duplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261483	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	6632810	\N	\N	EFO	9	EFO	disposition	Xq27.3q28 duplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261483	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	6925691	\N	\N	EFO	10	EFO	material property	Xq27.3q28 duplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261483	"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." []	7099121	\N	\N	EFO	11	EFO	experimental factor	Xq27.3q28 duplication syndrome
Orphanet:261494	\N	\N	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	75245	\N	\N	EFO	0	EFO	Kleefstra syndrome	Kleefstra syndrome
Orphanet:102283	Orphanet:261494	\N	"" []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	217706	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Kleefstra syndrome
Orphanet:183763	Orphanet:261494	\N	"" []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	217707	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Kleefstra syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	572534	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Kleefstra syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	572535	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Kleefstra syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	1154964	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Kleefstra syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	1154965	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Kleefstra syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	2037712	\N	\N	EFO	4	EFO	genetic disorder	Kleefstra syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	2037713	\N	\N	EFO	4	EFO	genetic disorder	Kleefstra syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	3188046	\N	\N	EFO	5	EFO	disease	Kleefstra syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	4395158	\N	\N	EFO	6	EFO	disposition	Kleefstra syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	5413182	\N	\N	EFO	7	EFO	material property	Kleefstra syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261494	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	6149777	\N	\N	EFO	8	EFO	experimental factor	Kleefstra syndrome
Orphanet:2615	\N	\N	"Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures." []	Orphanet:2615	"Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures." []	75246	\N	\N	EFO	0	EFO	Nakajo-Nishimura syndrome	Nakajo-Nishimura syndrome
Orphanet:324977	Orphanet:2615	\N	" gene (6p21.3)." []	Orphanet:2615	"Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures." []	217708	\N	\N	EFO	1	EFO	Proteasome disability syndrome	Nakajo-Nishimura syndrome
Orphanet:271870	Orphanet:324977	\N	"" []	Orphanet:2615	"Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures." []	572536	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Nakajo-Nishimura syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2615	"Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures." []	1154966	\N	\N	EFO	3	EFO	genetic disorder	Nakajo-Nishimura syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2615	"Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures." []	2037714	\N	\N	EFO	4	EFO	disease	Nakajo-Nishimura syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2615	"Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures." []	3188047	\N	\N	EFO	5	EFO	disposition	Nakajo-Nishimura syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2615	"Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures." []	4395159	\N	\N	EFO	6	EFO	material property	Nakajo-Nishimura syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2615	"Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures." []	5413183	\N	\N	EFO	7	EFO	experimental factor	Nakajo-Nishimura syndrome
Orphanet:261501	\N	\N	"" []	Orphanet:261501	"" []	75247	\N	\N	EFO	0	EFO	Atypical Norrie disease due to monosomy Xp11.3	Atypical Norrie disease due to monosomy Xp11.3
Orphanet:263731	Orphanet:261501	\N	"" []	Orphanet:261501	"" []	217709	\N	\N	EFO	1	EFO	Partial monosomy of the short arm of chromosome X	Atypical Norrie disease due to monosomy Xp11.3
Orphanet:263726	Orphanet:263731	\N	"" []	Orphanet:261501	"" []	572537	\N	\N	EFO	2	EFO	Partial deletion of chromosome X	Atypical Norrie disease due to monosomy Xp11.3
Orphanet:98159	Orphanet:263726	\N	"" []	Orphanet:261501	"" []	1154967	\N	\N	EFO	3	EFO	Chromosome X structural anomaly	Atypical Norrie disease due to monosomy Xp11.3
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:261501	"" []	2037715	\N	\N	EFO	4	EFO	Gonosome structural anomaly	Atypical Norrie disease due to monosomy Xp11.3
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:261501	"" []	3188048	\N	\N	EFO	5	EFO	Gonosome anomaly	Atypical Norrie disease due to monosomy Xp11.3
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:261501	"" []	4395160	\N	\N	EFO	6	EFO	Chromosomal anomaly	Atypical Norrie disease due to monosomy Xp11.3
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261501	"" []	5413184	\N	\N	EFO	7	EFO	genetic disorder	Atypical Norrie disease due to monosomy Xp11.3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261501	"" []	6149778	\N	\N	EFO	8	EFO	disease	Atypical Norrie disease due to monosomy Xp11.3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261501	"" []	6632811	\N	\N	EFO	9	EFO	disposition	Atypical Norrie disease due to monosomy Xp11.3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261501	"" []	6925692	\N	\N	EFO	10	EFO	material property	Atypical Norrie disease due to monosomy Xp11.3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261501	"" []	7099122	\N	\N	EFO	11	EFO	experimental factor	Atypical Norrie disease due to monosomy Xp11.3
Orphanet:261519	\N	\N	"" []	Orphanet:261519	"" []	75248	\N	\N	EFO	0	EFO	Maternal uniparental disomy of chromosome X	Maternal uniparental disomy of chromosome X
Orphanet:263793	Orphanet:261519	\N	"" []	Orphanet:261519	"" []	217710	\N	\N	EFO	1	EFO	Uniparental disomy of chromosome X	Maternal uniparental disomy of chromosome X
Orphanet:98159	Orphanet:263793	\N	"" []	Orphanet:261519	"" []	572538	\N	\N	EFO	2	EFO	Chromosome X structural anomaly	Maternal uniparental disomy of chromosome X
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:261519	"" []	1154968	\N	\N	EFO	3	EFO	Gonosome structural anomaly	Maternal uniparental disomy of chromosome X
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:261519	"" []	2037716	\N	\N	EFO	4	EFO	Gonosome anomaly	Maternal uniparental disomy of chromosome X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:261519	"" []	3188049	\N	\N	EFO	5	EFO	Chromosomal anomaly	Maternal uniparental disomy of chromosome X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261519	"" []	4395161	\N	\N	EFO	6	EFO	genetic disorder	Maternal uniparental disomy of chromosome X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261519	"" []	5413185	\N	\N	EFO	7	EFO	disease	Maternal uniparental disomy of chromosome X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261519	"" []	6149779	\N	\N	EFO	8	EFO	disposition	Maternal uniparental disomy of chromosome X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261519	"" []	6632812	\N	\N	EFO	9	EFO	material property	Maternal uniparental disomy of chromosome X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261519	"" []	6925693	\N	\N	EFO	10	EFO	experimental factor	Maternal uniparental disomy of chromosome X
Orphanet:261524	\N	\N	"" []	Orphanet:261524	"" []	75249	\N	\N	EFO	0	EFO	Paternal uniparental disomy of chromosome X	Paternal uniparental disomy of chromosome X
Orphanet:263793	Orphanet:261524	\N	"" []	Orphanet:261524	"" []	217711	\N	\N	EFO	1	EFO	Uniparental disomy of chromosome X	Paternal uniparental disomy of chromosome X
Orphanet:98159	Orphanet:263793	\N	"" []	Orphanet:261524	"" []	572539	\N	\N	EFO	2	EFO	Chromosome X structural anomaly	Paternal uniparental disomy of chromosome X
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:261524	"" []	1154969	\N	\N	EFO	3	EFO	Gonosome structural anomaly	Paternal uniparental disomy of chromosome X
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:261524	"" []	2037717	\N	\N	EFO	4	EFO	Gonosome anomaly	Paternal uniparental disomy of chromosome X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:261524	"" []	3188050	\N	\N	EFO	5	EFO	Chromosomal anomaly	Paternal uniparental disomy of chromosome X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261524	"" []	4395162	\N	\N	EFO	6	EFO	genetic disorder	Paternal uniparental disomy of chromosome X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261524	"" []	5413186	\N	\N	EFO	7	EFO	disease	Paternal uniparental disomy of chromosome X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261524	"" []	6149780	\N	\N	EFO	8	EFO	disposition	Paternal uniparental disomy of chromosome X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261524	"" []	6632813	\N	\N	EFO	9	EFO	material property	Paternal uniparental disomy of chromosome X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261524	"" []	6925694	\N	\N	EFO	10	EFO	experimental factor	Paternal uniparental disomy of chromosome X
Orphanet:261529	\N	\N	"" []	Orphanet:261529	"" []	75250	\N	\N	EFO	0	EFO	Ring chromosome Y	Ring chromosome Y
Orphanet:98158	Orphanet:261529	\N	"" []	Orphanet:261529	"" []	217712	\N	\N	EFO	1	EFO	Chromosome Y structural anomaly	Ring chromosome Y
Orphanet:98157	Orphanet:98158	\N	"" []	Orphanet:261529	"" []	572540	\N	\N	EFO	2	EFO	Gonosome structural anomaly	Ring chromosome Y
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:261529	"" []	1154970	\N	\N	EFO	3	EFO	Gonosome anomaly	Ring chromosome Y
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:261529	"" []	2037718	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome Y
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261529	"" []	3188051	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome Y
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261529	"" []	4395163	\N	\N	EFO	6	EFO	disease	Ring chromosome Y
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261529	"" []	5413187	\N	\N	EFO	7	EFO	disposition	Ring chromosome Y
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261529	"" []	6149781	\N	\N	EFO	8	EFO	material property	Ring chromosome Y
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261529	"" []	6632814	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome Y
Orphanet:261534	\N	\N	"" []	Orphanet:261534	"" []	75251	\N	\N	EFO	0	EFO	49,XXXYY syndrome	49,XXXYY syndrome
Orphanet:263749	Orphanet:261534	\N	"" []	Orphanet:261534	"" []	217713	\N	\N	EFO	1	EFO	X and Y chromosomal anomaly	49,XXXYY syndrome
Orphanet:98156	Orphanet:263749	\N	"" []	Orphanet:261534	"" []	572541	\N	\N	EFO	2	EFO	Gonosome number anomaly	49,XXXYY syndrome
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:261534	"" []	1154971	\N	\N	EFO	3	EFO	Gonosome anomaly	49,XXXYY syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:261534	"" []	2037719	\N	\N	EFO	4	EFO	Chromosomal anomaly	49,XXXYY syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261534	"" []	3188052	\N	\N	EFO	5	EFO	genetic disorder	49,XXXYY syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261534	"" []	4395164	\N	\N	EFO	6	EFO	disease	49,XXXYY syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261534	"" []	5413188	\N	\N	EFO	7	EFO	disposition	49,XXXYY syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261534	"" []	6149782	\N	\N	EFO	8	EFO	material property	49,XXXYY syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261534	"" []	6632815	\N	\N	EFO	9	EFO	experimental factor	49,XXXYY syndrome
Orphanet:261537	\N	\N	"" []	Orphanet:261537	"" []	75252	\N	\N	EFO	0	EFO	Mowat-Wilson syndrome due to monosomy 2q22	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:2152	Orphanet:261537	\N	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	Orphanet:261537	"" []	217714	\N	\N	EFO	1	EFO	Mowat-Wilson syndrome	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:262010	Orphanet:261537	\N	"" []	Orphanet:261537	"" []	217715	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 2	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:102283	Orphanet:2152	\N	"" []	Orphanet:261537	"" []	572542	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:108969	Orphanet:2152	\N	"" []	Orphanet:261537	"" []	572543	\N	\N	EFO	2	EFO	Syndromic intestinal malformation	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:183763	Orphanet:2152	\N	"" []	Orphanet:261537	"" []	572544	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:261771	Orphanet:262010	\N	"" []	Orphanet:261537	"" []	572545	\N	\N	EFO	2	EFO	Partial deletion of chromosome 2	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:261537	"" []	1154972	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:261537	"" []	1154973	\N	\N	EFO	3	EFO	Intestinal malformation	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:261537	"" []	1154974	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:261537	"" []	1154975	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:261537	"" []	2037720	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:261537	"" []	2037721	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:261537	"" []	2037722	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261537	"" []	2037723	\N	\N	EFO	4	EFO	Autosomal monosomy	Mowat-Wilson syndrome due to monosomy 2q22
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261537	"" []	4395166	\N	\N	EFO	6	EFO	genetic disorder	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:261537	"" []	3188054	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mowat-Wilson syndrome due to monosomy 2q22
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261537	"" []	3188055	\N	\N	EFO	5	EFO	genetic disorder	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261537	"" []	3188056	\N	\N	EFO	5	EFO	Autosomal anomaly	Mowat-Wilson syndrome due to monosomy 2q22
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261537	"" []	6149784	\N	\N	EFO	8	EFO	disease	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261537	"" []	4395167	\N	\N	EFO	6	EFO	Chromosomal anomaly	Mowat-Wilson syndrome due to monosomy 2q22
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261537	"" []	6470347	\N	\N	EFO	9	EFO	disposition	Mowat-Wilson syndrome due to monosomy 2q22
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261537	"" []	5413190	\N	\N	EFO	7	EFO	genetic disorder	Mowat-Wilson syndrome due to monosomy 2q22
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261537	"" []	6848478	\N	\N	EFO	10	EFO	material property	Mowat-Wilson syndrome due to monosomy 2q22
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261537	"" []	7068448	\N	\N	EFO	11	EFO	experimental factor	Mowat-Wilson syndrome due to monosomy 2q22
Orphanet:261552	\N	\N	"" []	Orphanet:261552	"" []	75253	\N	\N	EFO	0	EFO	Mowat-Wilson syndrome due to a ZEB2 point mutation	Mowat-Wilson syndrome due to a ZEB2 point mutation
Orphanet:2152	Orphanet:261552	\N	"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." []	Orphanet:261552	"" []	217716	\N	\N	EFO	1	EFO	Mowat-Wilson syndrome	Mowat-Wilson syndrome due to a ZEB2 point mutation
Orphanet:102283	Orphanet:2152	\N	"" []	Orphanet:261552	"" []	572546	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Mowat-Wilson syndrome due to a ZEB2 point mutation
Orphanet:108969	Orphanet:2152	\N	"" []	Orphanet:261552	"" []	572547	\N	\N	EFO	2	EFO	Syndromic intestinal malformation	Mowat-Wilson syndrome due to a ZEB2 point mutation
Orphanet:183763	Orphanet:2152	\N	"" []	Orphanet:261552	"" []	572548	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Mowat-Wilson syndrome due to a ZEB2 point mutation
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:261552	"" []	1154976	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Mowat-Wilson syndrome due to a ZEB2 point mutation
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:261552	"" []	1154977	\N	\N	EFO	3	EFO	Intestinal malformation	Mowat-Wilson syndrome due to a ZEB2 point mutation
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:261552	"" []	1154978	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Mowat-Wilson syndrome due to a ZEB2 point mutation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:261552	"" []	2037724	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mowat-Wilson syndrome due to a ZEB2 point mutation
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:261552	"" []	2037725	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	Mowat-Wilson syndrome due to a ZEB2 point mutation
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:261552	"" []	2037726	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Mowat-Wilson syndrome due to a ZEB2 point mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261552	"" []	4395169	\N	\N	EFO	6	EFO	genetic disorder	Mowat-Wilson syndrome due to a ZEB2 point mutation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:261552	"" []	3188058	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mowat-Wilson syndrome due to a ZEB2 point mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261552	"" []	3188059	\N	\N	EFO	5	EFO	genetic disorder	Mowat-Wilson syndrome due to a ZEB2 point mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261552	"" []	5182240	\N	\N	EFO	7	EFO	disease	Mowat-Wilson syndrome due to a ZEB2 point mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261552	"" []	5997597	\N	\N	EFO	8	EFO	disposition	Mowat-Wilson syndrome due to a ZEB2 point mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261552	"" []	6550948	\N	\N	EFO	9	EFO	material property	Mowat-Wilson syndrome due to a ZEB2 point mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261552	"" []	6889181	\N	\N	EFO	10	EFO	experimental factor	Mowat-Wilson syndrome due to a ZEB2 point mutation
Orphanet:261559	\N	\N	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	75254	\N	\N	EFO	0	EFO	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:126	Orphanet:261559	\N	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	217717	\N	\N	EFO	1	EFO	Blepharophimosis - epicanthus inversus - ptosis	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:262019	Orphanet:261559	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	217718	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 3	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:108985	Orphanet:126	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	572549	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:400022	Orphanet:126	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	572550	\N	\N	EFO	2	EFO	Rare female infertility due to an anomaly of ovarian function of genetic origin	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:95710	Orphanet:126	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	572551	\N	\N	EFO	2	EFO	Non-acquired premature ovarian failure	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:98571	Orphanet:126	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	572552	\N	\N	EFO	2	EFO	Secondary ectropion	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:98575	Orphanet:126	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	572553	\N	\N	EFO	2	EFO	Telecanthus	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:98578	Orphanet:126	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	572554	\N	\N	EFO	2	EFO	Ptosis	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:261776	Orphanet:262019	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	572555	\N	\N	EFO	2	EFO	Partial deletion of chromosome 3	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	1154979	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0005771	Orphanet:400022	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	1154980	\N	\N	EFO	3	EFO	ovarian disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:400011	Orphanet:400022	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	1154981	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	1154982	\N	\N	EFO	3	EFO	ovarian disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	1154983	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	1154984	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:98567	Orphanet:98571	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	1154985	\N	\N	EFO	3	EFO	Eyelids malposition disorder	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:98572	Orphanet:98575	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	1154986	\N	\N	EFO	3	EFO	Canthal anomaly	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	1154987	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:98142	Orphanet:261776	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	1154988	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	2037727	\N	\N	EFO	4	EFO	Rare genetic eye disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	2037728	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	2037729	\N	\N	EFO	4	EFO	reproductive system disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	2037730	\N	\N	EFO	4	EFO	Rare genetic female infertility	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	2037731	\N	\N	EFO	4	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	2037732	\N	\N	EFO	4	EFO	endocrine system disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	2037733	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	2037734	\N	\N	EFO	4	EFO	Rare palpebral disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	2037735	\N	\N	EFO	4	EFO	Rare palpebral disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	2037736	\N	\N	EFO	4	EFO	Rare palpebral disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	2037737	\N	\N	EFO	4	EFO	Autosomal monosomy	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	5413195	\N	\N	EFO	7	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	5413196	\N	\N	EFO	7	EFO	eye disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	3188062	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	5413194	\N	\N	EFO	7	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	3188064	\N	\N	EFO	5	EFO	Genetic infertility	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	5877121	\N	\N	EFO	8	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	3188066	\N	\N	EFO	5	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	3188067	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	3188068	\N	\N	EFO	5	EFO	reproductive system disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	3188069	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	3188070	\N	\N	EFO	5	EFO	Autosomal anomaly	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	5877122	\N	\N	EFO	8	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	6410026	\N	\N	EFO	9	EFO	disposition	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	4395173	\N	\N	EFO	6	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	4395174	\N	\N	EFO	6	EFO	reproductive system disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	4395176	\N	\N	EFO	6	EFO	Rare genetic eye disease	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	4395177	\N	\N	EFO	6	EFO	Chromosomal anomaly	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	6807871	\N	\N	EFO	10	EFO	material property	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	5413197	\N	\N	EFO	7	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261559	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." []	7048636	\N	\N	EFO	11	EFO	experimental factor	Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Orphanet:261572	\N	\N	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	75255	\N	\N	EFO	0	EFO	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:126	Orphanet:261572	\N	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	217719	\N	\N	EFO	1	EFO	Blepharophimosis - epicanthus inversus - ptosis	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:108985	Orphanet:126	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	572556	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:400022	Orphanet:126	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	572557	\N	\N	EFO	2	EFO	Rare female infertility due to an anomaly of ovarian function of genetic origin	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:95710	Orphanet:126	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	572558	\N	\N	EFO	2	EFO	Non-acquired premature ovarian failure	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:98571	Orphanet:126	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	572559	\N	\N	EFO	2	EFO	Secondary ectropion	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:98575	Orphanet:126	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	572560	\N	\N	EFO	2	EFO	Telecanthus	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:98578	Orphanet:126	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	572561	\N	\N	EFO	2	EFO	Ptosis	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	1154989	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0005771	Orphanet:400022	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	1154990	\N	\N	EFO	3	EFO	ovarian disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:400011	Orphanet:400022	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	1154991	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	1154992	\N	\N	EFO	3	EFO	ovarian disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	1154993	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	1154994	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:98567	Orphanet:98571	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	1154995	\N	\N	EFO	3	EFO	Eyelids malposition disorder	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:98572	Orphanet:98575	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	1154996	\N	\N	EFO	3	EFO	Canthal anomaly	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	1154997	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	2037738	\N	\N	EFO	4	EFO	Rare genetic eye disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	2037739	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	2037740	\N	\N	EFO	4	EFO	reproductive system disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	2037741	\N	\N	EFO	4	EFO	Rare genetic female infertility	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	2037742	\N	\N	EFO	4	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	2037743	\N	\N	EFO	4	EFO	endocrine system disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	2037744	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	2037745	\N	\N	EFO	4	EFO	Rare palpebral disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	2037746	\N	\N	EFO	4	EFO	Rare palpebral disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	2037747	\N	\N	EFO	4	EFO	Rare palpebral disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	5413201	\N	\N	EFO	7	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	5413202	\N	\N	EFO	7	EFO	eye disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	3188073	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	5413200	\N	\N	EFO	7	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	3188075	\N	\N	EFO	5	EFO	Genetic infertility	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	5877124	\N	\N	EFO	8	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	3188077	\N	\N	EFO	5	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	3188078	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	3188079	\N	\N	EFO	5	EFO	reproductive system disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	3188080	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	5877125	\N	\N	EFO	8	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	6410027	\N	\N	EFO	9	EFO	disposition	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	4395181	\N	\N	EFO	6	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	4395182	\N	\N	EFO	6	EFO	reproductive system disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	4395184	\N	\N	EFO	6	EFO	Rare genetic eye disease	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	6807872	\N	\N	EFO	10	EFO	material property	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261572	"Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." []	7048637	\N	\N	EFO	11	EFO	experimental factor	Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Orphanet:261579	\N	\N	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	75256	\N	\N	EFO	0	EFO	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:126	Orphanet:261579	\N	"Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II)." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	217720	\N	\N	EFO	1	EFO	Blepharophimosis - epicanthus inversus - ptosis	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:108985	Orphanet:126	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	572562	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:400022	Orphanet:126	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	572563	\N	\N	EFO	2	EFO	Rare female infertility due to an anomaly of ovarian function of genetic origin	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:95710	Orphanet:126	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	572564	\N	\N	EFO	2	EFO	Non-acquired premature ovarian failure	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:98571	Orphanet:126	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	572565	\N	\N	EFO	2	EFO	Secondary ectropion	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:98575	Orphanet:126	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	572566	\N	\N	EFO	2	EFO	Telecanthus	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:98578	Orphanet:126	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	572567	\N	\N	EFO	2	EFO	Ptosis	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	1154998	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0005771	Orphanet:400022	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	1154999	\N	\N	EFO	3	EFO	ovarian disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:400011	Orphanet:400022	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	1155000	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	1155001	\N	\N	EFO	3	EFO	ovarian disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	1155002	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	1155003	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:98567	Orphanet:98571	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	1155004	\N	\N	EFO	3	EFO	Eyelids malposition disorder	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:98572	Orphanet:98575	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	1155005	\N	\N	EFO	3	EFO	Canthal anomaly	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	1155006	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	2037748	\N	\N	EFO	4	EFO	Rare genetic eye disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	2037749	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	2037750	\N	\N	EFO	4	EFO	reproductive system disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	2037751	\N	\N	EFO	4	EFO	Rare genetic female infertility	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	2037752	\N	\N	EFO	4	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	2037753	\N	\N	EFO	4	EFO	endocrine system disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	2037754	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	2037755	\N	\N	EFO	4	EFO	Rare palpebral disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	2037756	\N	\N	EFO	4	EFO	Rare palpebral disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	2037757	\N	\N	EFO	4	EFO	Rare palpebral disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	5413206	\N	\N	EFO	7	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	5413207	\N	\N	EFO	7	EFO	eye disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	3188083	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	5413205	\N	\N	EFO	7	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	3188085	\N	\N	EFO	5	EFO	Genetic infertility	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	5877127	\N	\N	EFO	8	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	3188087	\N	\N	EFO	5	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	3188088	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	3188089	\N	\N	EFO	5	EFO	reproductive system disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	3188090	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	5877128	\N	\N	EFO	8	EFO	disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	6410028	\N	\N	EFO	9	EFO	disposition	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	4395188	\N	\N	EFO	6	EFO	genetic disorder	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	4395189	\N	\N	EFO	6	EFO	reproductive system disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	4395191	\N	\N	EFO	6	EFO	Rare genetic eye disease	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	6807873	\N	\N	EFO	10	EFO	material property	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261579	"Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." []	7048638	\N	\N	EFO	11	EFO	experimental factor	Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Orphanet:261584	\N	\N	"" []	Orphanet:261584	"" []	75257	\N	\N	EFO	0	EFO	Familial adenomatous polyposis due to 5q22.2 microdeletion	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:262038	Orphanet:261584	\N	"" []	Orphanet:261584	"" []	217721	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 5	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:733	Orphanet:261584	\N	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	Orphanet:261584	"" []	217722	\N	\N	EFO	1	EFO	Familial adenomatous polyposis	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:261786	Orphanet:262038	\N	"" []	Orphanet:261584	"" []	572568	\N	\N	EFO	2	EFO	Partial deletion of chromosome 5	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:140162	Orphanet:733	\N	"" []	Orphanet:261584	"" []	572569	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:271835	Orphanet:733	\N	"" []	Orphanet:261584	"" []	572570	\N	\N	EFO	2	EFO	Genetic digestive tract tumor	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:363314	Orphanet:733	\N	"" []	Orphanet:261584	"" []	572571	\N	\N	EFO	2	EFO	Genetic intestinal polyposis	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:98142	Orphanet:261786	\N	"" []	Orphanet:261584	"" []	1155007	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Familial adenomatous polyposis due to 5q22.2 microdeletion
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261584	"" []	1155008	\N	\N	EFO	3	EFO	genetic disorder	Familial adenomatous polyposis due to 5q22.2 microdeletion
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:261584	"" []	1155009	\N	\N	EFO	3	EFO	digestive system disease	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:261584	"" []	1155010	\N	\N	EFO	3	EFO	Rare genetic tumor	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:261584	"" []	1155011	\N	\N	EFO	3	EFO	Genetic intestinal disease	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261584	"" []	2037758	\N	\N	EFO	4	EFO	Autosomal monosomy	Familial adenomatous polyposis due to 5q22.2 microdeletion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261584	"" []	6149789	\N	\N	EFO	8	EFO	disease	Familial adenomatous polyposis due to 5q22.2 microdeletion
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261584	"" []	3188095	\N	\N	EFO	5	EFO	disease	Familial adenomatous polyposis due to 5q22.2 microdeletion
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261584	"" []	2037761	\N	\N	EFO	4	EFO	genetic disorder	Familial adenomatous polyposis due to 5q22.2 microdeletion
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:261584	"" []	2037762	\N	\N	EFO	4	EFO	neoplasm	Familial adenomatous polyposis due to 5q22.2 microdeletion
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:261584	"" []	2037763	\N	\N	EFO	4	EFO	digestive system disease	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:261584	"" []	2037764	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261584	"" []	3188091	\N	\N	EFO	5	EFO	Autosomal anomaly	Familial adenomatous polyposis due to 5q22.2 microdeletion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261584	"" []	6378891	\N	\N	EFO	9	EFO	disposition	Familial adenomatous polyposis due to 5q22.2 microdeletion
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261584	"" []	3188094	\N	\N	EFO	5	EFO	disease	Familial adenomatous polyposis due to 5q22.2 microdeletion
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261584	"" []	3188096	\N	\N	EFO	5	EFO	genetic disorder	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261584	"" []	4395192	\N	\N	EFO	6	EFO	Chromosomal anomaly	Familial adenomatous polyposis due to 5q22.2 microdeletion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261584	"" []	6778686	\N	\N	EFO	10	EFO	material property	Familial adenomatous polyposis due to 5q22.2 microdeletion
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261584	"" []	5413208	\N	\N	EFO	7	EFO	genetic disorder	Familial adenomatous polyposis due to 5q22.2 microdeletion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261584	"" []	7029889	\N	\N	EFO	11	EFO	experimental factor	Familial adenomatous polyposis due to 5q22.2 microdeletion
Orphanet:2616	\N	\N	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	75258	\N	\N	EFO	0	EFO	3M syndrome	3M syndrome
Orphanet:183570	Orphanet:2616	\N	"" []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	217723	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	3M syndrome
Orphanet:330206	Orphanet:2616	\N	"" []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	217724	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	3M syndrome
Orphanet:93440	Orphanet:2616	\N	"" []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	217725	\N	\N	EFO	1	EFO	Slender bone dysplasia	3M syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	572572	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	3M syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	572573	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	3M syndrome
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	572574	\N	\N	EFO	2	EFO	Primary bone dysplasia	3M syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	3188099	\N	\N	EFO	5	EFO	genetic disorder	3M syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	1155013	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	3M syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	1155014	\N	\N	EFO	3	EFO	Rare genetic bone disease	3M syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	1155015	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	3M syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	4066904	\N	\N	EFO	6	EFO	disease	3M syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	2037767	\N	\N	EFO	4	EFO	genetic disorder	3M syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	2037768	\N	\N	EFO	4	EFO	bone disease	3M syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	2037769	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	3M syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	5059853	\N	\N	EFO	7	EFO	disposition	3M syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	3188098	\N	\N	EFO	5	EFO	skeletal system disease	3M syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	5877131	\N	\N	EFO	8	EFO	material property	3M syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	4395196	\N	\N	EFO	6	EFO	disease	3M syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2616	"3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." []	6470352	\N	\N	EFO	9	EFO	experimental factor	3M syndrome
Orphanet:261600	\N	\N	"" []	Orphanet:261600	"" []	75259	\N	\N	EFO	0	EFO	Alagille syndrome due to 20p12 microdeletion	Alagille syndrome due to 20p12 microdeletion
Orphanet:261992	Orphanet:261600	\N	"" []	Orphanet:261600	"" []	217726	\N	\N	EFO	1	EFO	Partial monosomy of the short arm of chromosome 20	Alagille syndrome due to 20p12 microdeletion
Orphanet:52	Orphanet:261600	\N	"" []	Orphanet:261600	"" []	217727	\N	\N	EFO	1	EFO	Alagille syndrome	Alagille syndrome due to 20p12 microdeletion
Orphanet:261846	Orphanet:261992	\N	"" []	Orphanet:261600	"" []	572575	\N	\N	EFO	2	EFO	Partial deletion of chromosome 20	Alagille syndrome due to 20p12 microdeletion
Orphanet:108973	Orphanet:52	\N	"" []	Orphanet:261600	"" []	572576	\N	\N	EFO	2	EFO	Syndromic visceral malformation	Alagille syndrome due to 20p12 microdeletion
Orphanet:108987	Orphanet:52	\N	"" []	Orphanet:261600	"" []	572577	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Alagille syndrome due to 20p12 microdeletion
Orphanet:156532	Orphanet:52	\N	"" []	Orphanet:261600	"" []	572578	\N	\N	EFO	2	EFO	Rare syndrome with cardiac malformations	Alagille syndrome due to 20p12 microdeletion
Orphanet:156607	Orphanet:52	\N	"" []	Orphanet:261600	"" []	572579	\N	\N	EFO	2	EFO	Genetic biliary tract disease	Alagille syndrome due to 20p12 microdeletion
Orphanet:183422	Orphanet:52	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:261600	"" []	572580	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Alagille syndrome due to 20p12 microdeletion
Orphanet:330206	Orphanet:52	\N	"" []	Orphanet:261600	"" []	572581	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Alagille syndrome due to 20p12 microdeletion
Orphanet:93547	Orphanet:52	\N	"" []	Orphanet:261600	"" []	572582	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Alagille syndrome due to 20p12 microdeletion
Orphanet:98638	Orphanet:52	\N	"" []	Orphanet:261600	"" []	572583	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Alagille syndrome due to 20p12 microdeletion
Orphanet:98142	Orphanet:261846	\N	"" []	Orphanet:261600	"" []	1155016	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Alagille syndrome due to 20p12 microdeletion
Orphanet:183548	Orphanet:108973	\N	"" []	Orphanet:261600	"" []	1155017	\N	\N	EFO	3	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Alagille syndrome due to 20p12 microdeletion
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:261600	"" []	1155018	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Alagille syndrome due to 20p12 microdeletion
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:261600	"" []	1155019	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Alagille syndrome due to 20p12 microdeletion
Orphanet:156601	Orphanet:156607	\N	"" []	Orphanet:261600	"" []	1155020	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Alagille syndrome due to 20p12 microdeletion
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:261600	"" []	1155021	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Alagille syndrome due to 20p12 microdeletion
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:261600	"" []	1155022	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Alagille syndrome due to 20p12 microdeletion
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:261600	"" []	1155023	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Alagille syndrome due to 20p12 microdeletion
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:261600	"" []	1155024	\N	\N	EFO	3	EFO	Rare genetic eye disease	Alagille syndrome due to 20p12 microdeletion
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261600	"" []	2037770	\N	\N	EFO	4	EFO	Autosomal monosomy	Alagille syndrome due to 20p12 microdeletion
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:261600	"" []	2037771	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome due to 20p12 microdeletion
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:261600	"" []	2037772	\N	\N	EFO	4	EFO	Rare genetic eye disease	Alagille syndrome due to 20p12 microdeletion
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:261600	"" []	2037773	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome due to 20p12 microdeletion
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261600	"" []	2037774	\N	\N	EFO	4	EFO	genetic disorder	Alagille syndrome due to 20p12 microdeletion
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:261600	"" []	2037775	\N	\N	EFO	4	EFO	heart disease	Alagille syndrome due to 20p12 microdeletion
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:261600	"" []	2037776	\N	\N	EFO	4	EFO	digestive system disease	Alagille syndrome due to 20p12 microdeletion
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261600	"" []	2037777	\N	\N	EFO	4	EFO	genetic disorder	Alagille syndrome due to 20p12 microdeletion
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261600	"" []	2037778	\N	\N	EFO	4	EFO	genetic disorder	Alagille syndrome due to 20p12 microdeletion
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:261600	"" []	2037779	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome due to 20p12 microdeletion
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:261600	"" []	2037780	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome due to 20p12 microdeletion
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:261600	"" []	2037781	\N	\N	EFO	4	EFO	Rare genetic renal disease	Alagille syndrome due to 20p12 microdeletion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261600	"" []	3188102	\N	\N	EFO	5	EFO	genetic disorder	Alagille syndrome due to 20p12 microdeletion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:261600	"" []	3188103	\N	\N	EFO	5	EFO	eye disease	Alagille syndrome due to 20p12 microdeletion
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261600	"" []	3188100	\N	\N	EFO	5	EFO	Autosomal anomaly	Alagille syndrome due to 20p12 microdeletion
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261600	"" []	3188101	\N	\N	EFO	5	EFO	genetic disorder	Alagille syndrome due to 20p12 microdeletion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261600	"" []	6149790	\N	\N	EFO	8	EFO	disease	Alagille syndrome due to 20p12 microdeletion
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:261600	"" []	3188105	\N	\N	EFO	5	EFO	cardiovascular disease	Alagille syndrome due to 20p12 microdeletion
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261600	"" []	3188106	\N	\N	EFO	5	EFO	disease	Alagille syndrome due to 20p12 microdeletion
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261600	"" []	3188107	\N	\N	EFO	5	EFO	genetic disorder	Alagille syndrome due to 20p12 microdeletion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261600	"" []	4133702	\N	\N	EFO	6	EFO	disease	Alagille syndrome due to 20p12 microdeletion
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261600	"" []	4395197	\N	\N	EFO	6	EFO	Chromosomal anomaly	Alagille syndrome due to 20p12 microdeletion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261600	"" []	6410029	\N	\N	EFO	9	EFO	disposition	Alagille syndrome due to 20p12 microdeletion
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261600	"" []	4395199	\N	\N	EFO	6	EFO	disease	Alagille syndrome due to 20p12 microdeletion
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261600	"" []	5413211	\N	\N	EFO	7	EFO	genetic disorder	Alagille syndrome due to 20p12 microdeletion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261600	"" []	6807874	\N	\N	EFO	10	EFO	material property	Alagille syndrome due to 20p12 microdeletion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261600	"" []	7048639	\N	\N	EFO	11	EFO	experimental factor	Alagille syndrome due to 20p12 microdeletion
Orphanet:261619	\N	\N	"" []	Orphanet:261619	"" []	75260	\N	\N	EFO	0	EFO	Alagille syndrome due to a JAG1 point mutation	Alagille syndrome due to a JAG1 point mutation
Orphanet:52	Orphanet:261619	\N	"" []	Orphanet:261619	"" []	217728	\N	\N	EFO	1	EFO	Alagille syndrome	Alagille syndrome due to a JAG1 point mutation
Orphanet:108973	Orphanet:52	\N	"" []	Orphanet:261619	"" []	572584	\N	\N	EFO	2	EFO	Syndromic visceral malformation	Alagille syndrome due to a JAG1 point mutation
Orphanet:108987	Orphanet:52	\N	"" []	Orphanet:261619	"" []	572585	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Alagille syndrome due to a JAG1 point mutation
Orphanet:156532	Orphanet:52	\N	"" []	Orphanet:261619	"" []	572586	\N	\N	EFO	2	EFO	Rare syndrome with cardiac malformations	Alagille syndrome due to a JAG1 point mutation
Orphanet:156607	Orphanet:52	\N	"" []	Orphanet:261619	"" []	572587	\N	\N	EFO	2	EFO	Genetic biliary tract disease	Alagille syndrome due to a JAG1 point mutation
Orphanet:183422	Orphanet:52	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:261619	"" []	572588	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Alagille syndrome due to a JAG1 point mutation
Orphanet:330206	Orphanet:52	\N	"" []	Orphanet:261619	"" []	572589	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Alagille syndrome due to a JAG1 point mutation
Orphanet:93547	Orphanet:52	\N	"" []	Orphanet:261619	"" []	572590	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Alagille syndrome due to a JAG1 point mutation
Orphanet:98638	Orphanet:52	\N	"" []	Orphanet:261619	"" []	572591	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Alagille syndrome due to a JAG1 point mutation
Orphanet:183548	Orphanet:108973	\N	"" []	Orphanet:261619	"" []	1155025	\N	\N	EFO	3	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Alagille syndrome due to a JAG1 point mutation
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:261619	"" []	1155026	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Alagille syndrome due to a JAG1 point mutation
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:261619	"" []	1155027	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Alagille syndrome due to a JAG1 point mutation
Orphanet:156601	Orphanet:156607	\N	"" []	Orphanet:261619	"" []	1155028	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Alagille syndrome due to a JAG1 point mutation
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:261619	"" []	1155029	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Alagille syndrome due to a JAG1 point mutation
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:261619	"" []	1155030	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Alagille syndrome due to a JAG1 point mutation
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:261619	"" []	1155031	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Alagille syndrome due to a JAG1 point mutation
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:261619	"" []	1155032	\N	\N	EFO	3	EFO	Rare genetic eye disease	Alagille syndrome due to a JAG1 point mutation
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:261619	"" []	2037784	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome due to a JAG1 point mutation
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:261619	"" []	2037785	\N	\N	EFO	4	EFO	Rare genetic eye disease	Alagille syndrome due to a JAG1 point mutation
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:261619	"" []	2037786	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome due to a JAG1 point mutation
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261619	"" []	2037787	\N	\N	EFO	4	EFO	genetic disorder	Alagille syndrome due to a JAG1 point mutation
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:261619	"" []	2037788	\N	\N	EFO	4	EFO	heart disease	Alagille syndrome due to a JAG1 point mutation
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:261619	"" []	2037789	\N	\N	EFO	4	EFO	digestive system disease	Alagille syndrome due to a JAG1 point mutation
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261619	"" []	2037790	\N	\N	EFO	4	EFO	genetic disorder	Alagille syndrome due to a JAG1 point mutation
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261619	"" []	2037791	\N	\N	EFO	4	EFO	genetic disorder	Alagille syndrome due to a JAG1 point mutation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:261619	"" []	2037792	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome due to a JAG1 point mutation
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:261619	"" []	2037793	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome due to a JAG1 point mutation
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:261619	"" []	2037794	\N	\N	EFO	4	EFO	Rare genetic renal disease	Alagille syndrome due to a JAG1 point mutation
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261619	"" []	3188110	\N	\N	EFO	5	EFO	genetic disorder	Alagille syndrome due to a JAG1 point mutation
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:261619	"" []	3188111	\N	\N	EFO	5	EFO	eye disease	Alagille syndrome due to a JAG1 point mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261619	"" []	3188109	\N	\N	EFO	5	EFO	genetic disorder	Alagille syndrome due to a JAG1 point mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261619	"" []	4133703	\N	\N	EFO	6	EFO	disease	Alagille syndrome due to a JAG1 point mutation
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:261619	"" []	3188113	\N	\N	EFO	5	EFO	cardiovascular disease	Alagille syndrome due to a JAG1 point mutation
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261619	"" []	3188114	\N	\N	EFO	5	EFO	disease	Alagille syndrome due to a JAG1 point mutation
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261619	"" []	3188115	\N	\N	EFO	5	EFO	genetic disorder	Alagille syndrome due to a JAG1 point mutation
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261619	"" []	4133704	\N	\N	EFO	6	EFO	disease	Alagille syndrome due to a JAG1 point mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261619	"" []	5182247	\N	\N	EFO	7	EFO	disposition	Alagille syndrome due to a JAG1 point mutation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261619	"" []	4395201	\N	\N	EFO	6	EFO	disease	Alagille syndrome due to a JAG1 point mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261619	"" []	5997604	\N	\N	EFO	8	EFO	material property	Alagille syndrome due to a JAG1 point mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261619	"" []	6550953	\N	\N	EFO	9	EFO	experimental factor	Alagille syndrome due to a JAG1 point mutation
Orphanet:261629	\N	\N	"" []	Orphanet:261629	"" []	75261	\N	\N	EFO	0	EFO	Alagille syndrome due to a NOTCH2 point mutation	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:52	Orphanet:261629	\N	"" []	Orphanet:261629	"" []	217729	\N	\N	EFO	1	EFO	Alagille syndrome	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:108973	Orphanet:52	\N	"" []	Orphanet:261629	"" []	572592	\N	\N	EFO	2	EFO	Syndromic visceral malformation	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:108987	Orphanet:52	\N	"" []	Orphanet:261629	"" []	572593	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:156532	Orphanet:52	\N	"" []	Orphanet:261629	"" []	572594	\N	\N	EFO	2	EFO	Rare syndrome with cardiac malformations	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:156607	Orphanet:52	\N	"" []	Orphanet:261629	"" []	572595	\N	\N	EFO	2	EFO	Genetic biliary tract disease	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:183422	Orphanet:52	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:261629	"" []	572596	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:330206	Orphanet:52	\N	"" []	Orphanet:261629	"" []	572597	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:93547	Orphanet:52	\N	"" []	Orphanet:261629	"" []	572598	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:98638	Orphanet:52	\N	"" []	Orphanet:261629	"" []	572599	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:183548	Orphanet:108973	\N	"" []	Orphanet:261629	"" []	1155033	\N	\N	EFO	3	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:261629	"" []	1155034	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:261629	"" []	1155035	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:156601	Orphanet:156607	\N	"" []	Orphanet:261629	"" []	1155036	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:261629	"" []	1155037	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:261629	"" []	1155038	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:261629	"" []	1155039	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:261629	"" []	1155040	\N	\N	EFO	3	EFO	Rare genetic eye disease	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:261629	"" []	2037797	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:261629	"" []	2037798	\N	\N	EFO	4	EFO	Rare genetic eye disease	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:261629	"" []	2037799	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261629	"" []	2037800	\N	\N	EFO	4	EFO	genetic disorder	Alagille syndrome due to a NOTCH2 point mutation
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:261629	"" []	2037801	\N	\N	EFO	4	EFO	heart disease	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:261629	"" []	2037802	\N	\N	EFO	4	EFO	digestive system disease	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261629	"" []	2037803	\N	\N	EFO	4	EFO	genetic disorder	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261629	"" []	2037804	\N	\N	EFO	4	EFO	genetic disorder	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:261629	"" []	2037805	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:261629	"" []	2037806	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:261629	"" []	2037807	\N	\N	EFO	4	EFO	Rare genetic renal disease	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261629	"" []	3188118	\N	\N	EFO	5	EFO	genetic disorder	Alagille syndrome due to a NOTCH2 point mutation
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:261629	"" []	3188119	\N	\N	EFO	5	EFO	eye disease	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261629	"" []	3188117	\N	\N	EFO	5	EFO	genetic disorder	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261629	"" []	4133705	\N	\N	EFO	6	EFO	disease	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:261629	"" []	3188121	\N	\N	EFO	5	EFO	cardiovascular disease	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261629	"" []	3188122	\N	\N	EFO	5	EFO	disease	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261629	"" []	3188123	\N	\N	EFO	5	EFO	genetic disorder	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261629	"" []	4133706	\N	\N	EFO	6	EFO	disease	Alagille syndrome due to a NOTCH2 point mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261629	"" []	5182248	\N	\N	EFO	7	EFO	disposition	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261629	"" []	4395203	\N	\N	EFO	6	EFO	disease	Alagille syndrome due to a NOTCH2 point mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261629	"" []	5997605	\N	\N	EFO	8	EFO	material property	Alagille syndrome due to a NOTCH2 point mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261629	"" []	6550954	\N	\N	EFO	9	EFO	experimental factor	Alagille syndrome due to a NOTCH2 point mutation
Orphanet:261638	\N	\N	"" []	Orphanet:261638	"" []	75262	\N	\N	EFO	0	EFO	Okihiro syndrome due to 20q13 microdeletion	Okihiro syndrome due to 20q13 microdeletion
Orphanet:262164	Orphanet:261638	\N	"" []	Orphanet:261638	"" []	217730	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 20	Okihiro syndrome due to 20q13 microdeletion
Orphanet:93293	Orphanet:261638	\N	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	Orphanet:261638	"" []	217731	\N	\N	EFO	1	EFO	Okihiro syndrome	Okihiro syndrome due to 20q13 microdeletion
Orphanet:261846	Orphanet:262164	\N	"" []	Orphanet:261638	"" []	572600	\N	\N	EFO	2	EFO	Partial deletion of chromosome 20	Okihiro syndrome due to 20q13 microdeletion
Orphanet:117573	Orphanet:93293	\N	"" []	Orphanet:261638	"" []	572601	\N	\N	EFO	2	EFO	Syndromic anorectal malformation	Okihiro syndrome due to 20q13 microdeletion
Orphanet:404574	Orphanet:93293	\N	"" []	Orphanet:261638	"" []	572602	\N	\N	EFO	2	EFO	Genetic syndrome with limb reduction defects	Okihiro syndrome due to 20q13 microdeletion
Orphanet:98683	Orphanet:93293	\N	"" []	Orphanet:261638	"" []	572603	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Okihiro syndrome due to 20q13 microdeletion
Orphanet:98142	Orphanet:261846	\N	"" []	Orphanet:261638	"" []	1155041	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Okihiro syndrome due to 20q13 microdeletion
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:261638	"" []	1155042	\N	\N	EFO	3	EFO	Anorectal malformation	Okihiro syndrome due to 20q13 microdeletion
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:261638	"" []	1155043	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Okihiro syndrome due to 20q13 microdeletion
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:261638	"" []	1155044	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Okihiro syndrome due to 20q13 microdeletion
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:261638	"" []	1155045	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Okihiro syndrome due to 20q13 microdeletion
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261638	"" []	2037810	\N	\N	EFO	4	EFO	Autosomal monosomy	Okihiro syndrome due to 20q13 microdeletion
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:261638	"" []	2037811	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	Okihiro syndrome due to 20q13 microdeletion
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:261638	"" []	2037812	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Okihiro syndrome due to 20q13 microdeletion
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:261638	"" []	2037813	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Okihiro syndrome due to 20q13 microdeletion
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:261638	"" []	2037814	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Okihiro syndrome due to 20q13 microdeletion
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261638	"" []	3188125	\N	\N	EFO	5	EFO	Autosomal anomaly	Okihiro syndrome due to 20q13 microdeletion
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:261638	"" []	3188126	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Okihiro syndrome due to 20q13 microdeletion
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:261638	"" []	3188127	\N	\N	EFO	5	EFO	Rare genetic bone disease	Okihiro syndrome due to 20q13 microdeletion
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:261638	"" []	3188128	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Okihiro syndrome due to 20q13 microdeletion
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:261638	"" []	3188129	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Okihiro syndrome due to 20q13 microdeletion
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:261638	"" []	3188130	\N	\N	EFO	5	EFO	Rare genetic eye disease	Okihiro syndrome due to 20q13 microdeletion
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261638	"" []	4395204	\N	\N	EFO	6	EFO	Chromosomal anomaly	Okihiro syndrome due to 20q13 microdeletion
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261638	"" []	5413218	\N	\N	EFO	7	EFO	genetic disorder	Okihiro syndrome due to 20q13 microdeletion
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261638	"" []	4395206	\N	\N	EFO	6	EFO	genetic disorder	Okihiro syndrome due to 20q13 microdeletion
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:261638	"" []	4395207	\N	\N	EFO	6	EFO	bone disease	Okihiro syndrome due to 20q13 microdeletion
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:261638	"" []	4395208	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Okihiro syndrome due to 20q13 microdeletion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261638	"" []	4395209	\N	\N	EFO	6	EFO	genetic disorder	Okihiro syndrome due to 20q13 microdeletion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:261638	"" []	4395210	\N	\N	EFO	6	EFO	eye disease	Okihiro syndrome due to 20q13 microdeletion
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261638	"" []	5413215	\N	\N	EFO	7	EFO	genetic disorder	Okihiro syndrome due to 20q13 microdeletion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261638	"" []	5997606	\N	\N	EFO	8	EFO	disease	Okihiro syndrome due to 20q13 microdeletion
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:261638	"" []	5413217	\N	\N	EFO	7	EFO	skeletal system disease	Okihiro syndrome due to 20q13 microdeletion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261638	"" []	5413219	\N	\N	EFO	7	EFO	disease	Okihiro syndrome due to 20q13 microdeletion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261638	"" []	6550955	\N	\N	EFO	9	EFO	disposition	Okihiro syndrome due to 20q13 microdeletion
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261638	"" []	6149795	\N	\N	EFO	8	EFO	disease	Okihiro syndrome due to 20q13 microdeletion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261638	"" []	6889182	\N	\N	EFO	10	EFO	material property	Okihiro syndrome due to 20q13 microdeletion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261638	"" []	7085921	\N	\N	EFO	11	EFO	experimental factor	Okihiro syndrome due to 20q13 microdeletion
Orphanet:261647	\N	\N	"" []	Orphanet:261647	"" []	75263	\N	\N	EFO	0	EFO	Okihiro syndrome due to a point mutation	Okihiro syndrome due to a point mutation
Orphanet:93293	Orphanet:261647	\N	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	Orphanet:261647	"" []	217732	\N	\N	EFO	1	EFO	Okihiro syndrome	Okihiro syndrome due to a point mutation
Orphanet:117573	Orphanet:93293	\N	"" []	Orphanet:261647	"" []	572604	\N	\N	EFO	2	EFO	Syndromic anorectal malformation	Okihiro syndrome due to a point mutation
Orphanet:404574	Orphanet:93293	\N	"" []	Orphanet:261647	"" []	572605	\N	\N	EFO	2	EFO	Genetic syndrome with limb reduction defects	Okihiro syndrome due to a point mutation
Orphanet:98683	Orphanet:93293	\N	"" []	Orphanet:261647	"" []	572606	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Okihiro syndrome due to a point mutation
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:261647	"" []	1155046	\N	\N	EFO	3	EFO	Anorectal malformation	Okihiro syndrome due to a point mutation
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:261647	"" []	1155047	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Okihiro syndrome due to a point mutation
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:261647	"" []	1155048	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Okihiro syndrome due to a point mutation
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:261647	"" []	1155049	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Okihiro syndrome due to a point mutation
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:261647	"" []	2037815	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	Okihiro syndrome due to a point mutation
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:261647	"" []	2037816	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Okihiro syndrome due to a point mutation
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:261647	"" []	2037817	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Okihiro syndrome due to a point mutation
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:261647	"" []	2037818	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Okihiro syndrome due to a point mutation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:261647	"" []	3188131	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Okihiro syndrome due to a point mutation
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:261647	"" []	3188132	\N	\N	EFO	5	EFO	Rare genetic bone disease	Okihiro syndrome due to a point mutation
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:261647	"" []	3188133	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Okihiro syndrome due to a point mutation
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:261647	"" []	3188134	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Okihiro syndrome due to a point mutation
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:261647	"" []	3188135	\N	\N	EFO	5	EFO	Rare genetic eye disease	Okihiro syndrome due to a point mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261647	"" []	5413222	\N	\N	EFO	7	EFO	genetic disorder	Okihiro syndrome due to a point mutation
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261647	"" []	4395212	\N	\N	EFO	6	EFO	genetic disorder	Okihiro syndrome due to a point mutation
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:261647	"" []	4395213	\N	\N	EFO	6	EFO	bone disease	Okihiro syndrome due to a point mutation
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:261647	"" []	4395214	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Okihiro syndrome due to a point mutation
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261647	"" []	4395215	\N	\N	EFO	6	EFO	genetic disorder	Okihiro syndrome due to a point mutation
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:261647	"" []	4395216	\N	\N	EFO	6	EFO	eye disease	Okihiro syndrome due to a point mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261647	"" []	5997607	\N	\N	EFO	8	EFO	disease	Okihiro syndrome due to a point mutation
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:261647	"" []	5413221	\N	\N	EFO	7	EFO	skeletal system disease	Okihiro syndrome due to a point mutation
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261647	"" []	5413223	\N	\N	EFO	7	EFO	disease	Okihiro syndrome due to a point mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261647	"" []	6550956	\N	\N	EFO	9	EFO	disposition	Okihiro syndrome due to a point mutation
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261647	"" []	6149797	\N	\N	EFO	8	EFO	disease	Okihiro syndrome due to a point mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261647	"" []	6889183	\N	\N	EFO	10	EFO	material property	Okihiro syndrome due to a point mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261647	"" []	7085922	\N	\N	EFO	11	EFO	experimental factor	Okihiro syndrome due to a point mutation
Orphanet:261652	\N	\N	"" []	Orphanet:261652	"" []	75264	\N	\N	EFO	0	EFO	Kleefstra syndrome due to a point mutation	Kleefstra syndrome due to a point mutation
Orphanet:261494	Orphanet:261652	\N	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	Orphanet:261652	"" []	217733	\N	\N	EFO	1	EFO	Kleefstra syndrome	Kleefstra syndrome due to a point mutation
Orphanet:102283	Orphanet:261494	\N	"" []	Orphanet:261652	"" []	572607	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Kleefstra syndrome due to a point mutation
Orphanet:183763	Orphanet:261494	\N	"" []	Orphanet:261652	"" []	572608	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Kleefstra syndrome due to a point mutation
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:261652	"" []	1155050	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Kleefstra syndrome due to a point mutation
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:261652	"" []	1155051	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Kleefstra syndrome due to a point mutation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:261652	"" []	2037819	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Kleefstra syndrome due to a point mutation
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:261652	"" []	2037820	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Kleefstra syndrome due to a point mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261652	"" []	3188136	\N	\N	EFO	5	EFO	genetic disorder	Kleefstra syndrome due to a point mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261652	"" []	3188137	\N	\N	EFO	5	EFO	genetic disorder	Kleefstra syndrome due to a point mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261652	"" []	4395217	\N	\N	EFO	6	EFO	disease	Kleefstra syndrome due to a point mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261652	"" []	5413224	\N	\N	EFO	7	EFO	disposition	Kleefstra syndrome due to a point mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261652	"" []	6149798	\N	\N	EFO	8	EFO	material property	Kleefstra syndrome due to a point mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261652	"" []	6632820	\N	\N	EFO	9	EFO	experimental factor	Kleefstra syndrome due to a point mutation
Orphanet:2617	\N	\N	"" []	Orphanet:2617	"" []	75265	\N	\N	EFO	0	EFO	Bird headed-dwarfism, Montreal type	Bird headed-dwarfism, Montreal type
Orphanet:102283	Orphanet:2617	\N	"" []	Orphanet:2617	"" []	217734	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Bird headed-dwarfism, Montreal type
Orphanet:183763	Orphanet:2617	\N	"" []	Orphanet:2617	"" []	217735	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Bird headed-dwarfism, Montreal type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2617	"" []	572609	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Bird headed-dwarfism, Montreal type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2617	"" []	572610	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Bird headed-dwarfism, Montreal type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2617	"" []	1155052	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bird headed-dwarfism, Montreal type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2617	"" []	1155053	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Bird headed-dwarfism, Montreal type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2617	"" []	2037821	\N	\N	EFO	4	EFO	genetic disorder	Bird headed-dwarfism, Montreal type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2617	"" []	2037822	\N	\N	EFO	4	EFO	genetic disorder	Bird headed-dwarfism, Montreal type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2617	"" []	3188138	\N	\N	EFO	5	EFO	disease	Bird headed-dwarfism, Montreal type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2617	"" []	4395218	\N	\N	EFO	6	EFO	disposition	Bird headed-dwarfism, Montreal type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2617	"" []	5413225	\N	\N	EFO	7	EFO	material property	Bird headed-dwarfism, Montreal type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2617	"" []	6149799	\N	\N	EFO	8	EFO	experimental factor	Bird headed-dwarfism, Montreal type
Orphanet:261766	\N	\N	"" []	Orphanet:261766	"" []	75266	\N	\N	EFO	0	EFO	Partial deletion of chromosome 1	Partial deletion of chromosome 1
Orphanet:98142	Orphanet:261766	\N	"" []	Orphanet:261766	"" []	217736	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 1
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261766	"" []	572611	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 1
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261766	"" []	1155054	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261766	"" []	2037823	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261766	"" []	3188139	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261766	"" []	4395219	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261766	"" []	5413226	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261766	"" []	6149800	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261766	"" []	6632821	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 1
Orphanet:261771	\N	\N	"" []	Orphanet:261771	"" []	75267	\N	\N	EFO	0	EFO	Partial deletion of chromosome 2	Partial deletion of chromosome 2
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:261771	"" []	217737	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 2
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261771	"" []	572612	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 2
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261771	"" []	1155055	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 2
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261771	"" []	2037824	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 2
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261771	"" []	3188140	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261771	"" []	4395220	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261771	"" []	5413227	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261771	"" []	6149801	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261771	"" []	6632822	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 2
Orphanet:261776	\N	\N	"" []	Orphanet:261776	"" []	75268	\N	\N	EFO	0	EFO	Partial deletion of chromosome 3	Partial deletion of chromosome 3
Orphanet:98142	Orphanet:261776	\N	"" []	Orphanet:261776	"" []	217738	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 3
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261776	"" []	572613	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 3
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261776	"" []	1155056	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 3
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261776	"" []	2037825	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 3
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261776	"" []	3188141	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261776	"" []	4395221	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261776	"" []	5413228	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261776	"" []	6149802	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261776	"" []	6632823	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 3
Orphanet:261781	\N	\N	"" []	Orphanet:261781	"" []	75269	\N	\N	EFO	0	EFO	Partial deletion of chromosome 4	Partial deletion of chromosome 4
Orphanet:98142	Orphanet:261781	\N	"" []	Orphanet:261781	"" []	217739	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 4
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261781	"" []	572614	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 4
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261781	"" []	1155057	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 4
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261781	"" []	2037826	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 4
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261781	"" []	3188142	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261781	"" []	4395222	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261781	"" []	5413229	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261781	"" []	6149803	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261781	"" []	6632824	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 4
Orphanet:261786	\N	\N	"" []	Orphanet:261786	"" []	75270	\N	\N	EFO	0	EFO	Partial deletion of chromosome 5	Partial deletion of chromosome 5
Orphanet:98142	Orphanet:261786	\N	"" []	Orphanet:261786	"" []	217740	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 5
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261786	"" []	572615	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 5
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261786	"" []	1155058	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 5
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261786	"" []	2037827	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 5
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261786	"" []	3188143	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261786	"" []	4395223	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261786	"" []	5413230	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261786	"" []	6149804	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261786	"" []	6632825	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 5
Orphanet:261791	\N	\N	"" []	Orphanet:261791	"" []	75271	\N	\N	EFO	0	EFO	Partial deletion of chromosome 6	Partial deletion of chromosome 6
Orphanet:98142	Orphanet:261791	\N	"" []	Orphanet:261791	"" []	217741	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 6
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261791	"" []	572616	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 6
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261791	"" []	1155059	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 6
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261791	"" []	2037828	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 6
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261791	"" []	3188144	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261791	"" []	4395224	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261791	"" []	5413231	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261791	"" []	6149805	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261791	"" []	6632826	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 6
Orphanet:261796	\N	\N	"" []	Orphanet:261796	"" []	75272	\N	\N	EFO	0	EFO	Partial deletion of chromosome 7	Partial deletion of chromosome 7
Orphanet:98142	Orphanet:261796	\N	"" []	Orphanet:261796	"" []	217742	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 7
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261796	"" []	572617	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 7
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261796	"" []	1155060	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 7
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261796	"" []	2037829	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 7
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261796	"" []	3188145	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261796	"" []	4395225	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261796	"" []	5413232	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261796	"" []	6149806	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261796	"" []	6632827	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 7
Orphanet:261801	\N	\N	"" []	Orphanet:261801	"" []	75273	\N	\N	EFO	0	EFO	Partial deletion of chromosome 8	Partial deletion of chromosome 8
Orphanet:98142	Orphanet:261801	\N	"" []	Orphanet:261801	"" []	217743	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 8
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261801	"" []	572618	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 8
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261801	"" []	1155061	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 8
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261801	"" []	2037830	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 8
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261801	"" []	3188146	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261801	"" []	4395226	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261801	"" []	5413233	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261801	"" []	6149807	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261801	"" []	6632828	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 8
Orphanet:261806	\N	\N	"" []	Orphanet:261806	"" []	75274	\N	\N	EFO	0	EFO	Partial deletion of chromosome 9	Partial deletion of chromosome 9
Orphanet:98142	Orphanet:261806	\N	"" []	Orphanet:261806	"" []	217744	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 9
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261806	"" []	572619	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 9
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261806	"" []	1155062	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 9
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261806	"" []	2037831	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 9
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261806	"" []	3188147	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261806	"" []	4395227	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261806	"" []	5413234	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261806	"" []	6149808	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261806	"" []	6632829	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 9
Orphanet:261811	\N	\N	"" []	Orphanet:261811	"" []	75275	\N	\N	EFO	0	EFO	Partial deletion of chromosome 10	Partial deletion of chromosome 10
Orphanet:98142	Orphanet:261811	\N	"" []	Orphanet:261811	"" []	217745	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 10
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261811	"" []	572620	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 10
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261811	"" []	1155063	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 10
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261811	"" []	2037832	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 10
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261811	"" []	3188148	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 10
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261811	"" []	4395228	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 10
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261811	"" []	5413235	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 10
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261811	"" []	6149809	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 10
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261811	"" []	6632830	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 10
Orphanet:261816	\N	\N	"" []	Orphanet:261816	"" []	75276	\N	\N	EFO	0	EFO	Partial deletion of chromosome 11	Partial deletion of chromosome 11
Orphanet:98142	Orphanet:261816	\N	"" []	Orphanet:261816	"" []	217746	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 11
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261816	"" []	572621	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 11
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261816	"" []	1155064	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 11
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261816	"" []	2037833	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 11
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261816	"" []	3188149	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261816	"" []	4395229	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261816	"" []	5413236	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261816	"" []	6149810	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261816	"" []	6632831	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 11
Orphanet:261821	\N	\N	"" []	Orphanet:261821	"" []	75277	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 12	Partial deletion of the long arm of chromosome 12
Orphanet:282124	Orphanet:261821	\N	"" []	Orphanet:261821	"" []	217747	\N	\N	EFO	1	EFO	Partial deletion of chromosome 12	Partial deletion of the long arm of chromosome 12
Orphanet:98142	Orphanet:282124	\N	"" []	Orphanet:261821	"" []	572622	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 12
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261821	"" []	1155065	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 12
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261821	"" []	2037834	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 12
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261821	"" []	3188150	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 12
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261821	"" []	4395230	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 12
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261821	"" []	5413237	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 12
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261821	"" []	6149811	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 12
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261821	"" []	6632832	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 12
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261821	"" []	6925697	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 12
Orphanet:261826	\N	\N	"" []	Orphanet:261826	"" []	75278	\N	\N	EFO	0	EFO	Partial deletion of chromosome 16	Partial deletion of chromosome 16
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:261826	"" []	217748	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 16
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261826	"" []	572623	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 16
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261826	"" []	1155066	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 16
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261826	"" []	2037835	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 16
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261826	"" []	3188151	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261826	"" []	4395231	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261826	"" []	5413238	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261826	"" []	6149812	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261826	"" []	6632833	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 16
Orphanet:261831	\N	\N	"" []	Orphanet:261831	"" []	75279	\N	\N	EFO	0	EFO	Partial deletion of chromosome 17	Partial deletion of chromosome 17
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:261831	"" []	217749	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 17
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261831	"" []	572624	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 17
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261831	"" []	1155067	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 17
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261831	"" []	2037836	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 17
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261831	"" []	3188152	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 17
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261831	"" []	4395232	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 17
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261831	"" []	5413239	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 17
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261831	"" []	6149813	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 17
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261831	"" []	6632834	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 17
Orphanet:261836	\N	\N	"" []	Orphanet:261836	"" []	75280	\N	\N	EFO	0	EFO	Partial deletion of chromosome 18	Partial deletion of chromosome 18
Orphanet:98142	Orphanet:261836	\N	"" []	Orphanet:261836	"" []	217750	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 18
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261836	"" []	572625	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 18
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261836	"" []	1155068	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 18
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261836	"" []	2037837	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 18
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261836	"" []	3188153	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 18
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261836	"" []	4395233	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 18
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261836	"" []	5413240	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 18
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261836	"" []	6149814	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 18
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261836	"" []	6632835	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 18
Orphanet:261841	\N	\N	"" []	Orphanet:261841	"" []	75281	\N	\N	EFO	0	EFO	Partial deletion of chromosome 19	Partial deletion of chromosome 19
Orphanet:98142	Orphanet:261841	\N	"" []	Orphanet:261841	"" []	217751	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 19
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261841	"" []	572626	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 19
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261841	"" []	1155069	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 19
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261841	"" []	2037838	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 19
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261841	"" []	3188154	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 19
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261841	"" []	4395234	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 19
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261841	"" []	5413241	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 19
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261841	"" []	6149815	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 19
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261841	"" []	6632836	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 19
Orphanet:261846	\N	\N	"" []	Orphanet:261846	"" []	75282	\N	\N	EFO	0	EFO	Partial deletion of chromosome 20	Partial deletion of chromosome 20
Orphanet:98142	Orphanet:261846	\N	"" []	Orphanet:261846	"" []	217752	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 20
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261846	"" []	572627	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 20
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261846	"" []	1155070	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 20
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261846	"" []	2037839	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 20
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261846	"" []	3188155	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 20
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261846	"" []	4395235	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 20
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261846	"" []	5413242	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 20
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261846	"" []	6149816	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 20
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261846	"" []	6632837	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 20
Orphanet:261857	\N	\N	"" []	Orphanet:261857	"" []	75283	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 1	Partial deletion of the short arm of chromosome 1
Orphanet:261766	Orphanet:261857	\N	"" []	Orphanet:261857	"" []	217753	\N	\N	EFO	1	EFO	Partial deletion of chromosome 1	Partial deletion of the short arm of chromosome 1
Orphanet:98142	Orphanet:261766	\N	"" []	Orphanet:261857	"" []	572628	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 1
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261857	"" []	1155071	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 1
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261857	"" []	2037840	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261857	"" []	3188156	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261857	"" []	4395236	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261857	"" []	5413243	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261857	"" []	6149817	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261857	"" []	6632838	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261857	"" []	6925698	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 1
Orphanet:261866	\N	\N	"" []	Orphanet:261866	"" []	75284	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 2	Partial deletion of the short arm of chromosome 2
Orphanet:261771	Orphanet:261866	\N	"" []	Orphanet:261866	"" []	217754	\N	\N	EFO	1	EFO	Partial deletion of chromosome 2	Partial deletion of the short arm of chromosome 2
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:261866	"" []	572629	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 2
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261866	"" []	1155072	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 2
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261866	"" []	2037841	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 2
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261866	"" []	3188157	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 2
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261866	"" []	4395237	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261866	"" []	5413244	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261866	"" []	6149818	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261866	"" []	6632839	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261866	"" []	6925699	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 2
Orphanet:261875	\N	\N	"" []	Orphanet:261875	"" []	75285	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 3	Partial deletion of the short arm of chromosome 3
Orphanet:261776	Orphanet:261875	\N	"" []	Orphanet:261875	"" []	217755	\N	\N	EFO	1	EFO	Partial deletion of chromosome 3	Partial deletion of the short arm of chromosome 3
Orphanet:98142	Orphanet:261776	\N	"" []	Orphanet:261875	"" []	572630	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 3
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261875	"" []	1155073	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 3
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261875	"" []	2037842	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 3
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261875	"" []	3188158	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 3
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261875	"" []	4395238	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261875	"" []	5413245	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261875	"" []	6149819	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261875	"" []	6632840	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261875	"" []	6925700	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 3
Orphanet:261884	\N	\N	"" []	Orphanet:261884	"" []	75286	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 4	Partial deletion of the short arm of chromosome 4
Orphanet:261781	Orphanet:261884	\N	"" []	Orphanet:261884	"" []	217756	\N	\N	EFO	1	EFO	Partial deletion of chromosome 4	Partial deletion of the short arm of chromosome 4
Orphanet:98142	Orphanet:261781	\N	"" []	Orphanet:261884	"" []	572631	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 4
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261884	"" []	1155074	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 4
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261884	"" []	2037843	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 4
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261884	"" []	3188159	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 4
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261884	"" []	4395239	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261884	"" []	5413246	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261884	"" []	6149820	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261884	"" []	6632841	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261884	"" []	6925701	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 4
Orphanet:261893	\N	\N	"" []	Orphanet:261893	"" []	75287	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 5	Partial deletion of the short arm of chromosome 5
Orphanet:261786	Orphanet:261893	\N	"" []	Orphanet:261893	"" []	217757	\N	\N	EFO	1	EFO	Partial deletion of chromosome 5	Partial deletion of the short arm of chromosome 5
Orphanet:98142	Orphanet:261786	\N	"" []	Orphanet:261893	"" []	572632	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 5
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261893	"" []	1155075	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 5
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261893	"" []	2037844	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 5
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261893	"" []	3188160	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 5
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261893	"" []	4395240	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261893	"" []	5413247	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261893	"" []	6149821	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261893	"" []	6632842	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261893	"" []	6925702	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 5
Orphanet:2619	\N	\N	"" []	Orphanet:2619	"" []	75288	\N	\N	EFO	0	EFO	Brachydactylous dwarfism, Mseleni type	Brachydactylous dwarfism, Mseleni type
Orphanet:253	Orphanet:2619	\N	"" []	Orphanet:2619	"" []	217758	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Brachydactylous dwarfism, Mseleni type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:2619	"" []	572633	\N	\N	EFO	2	EFO	Primary bone dysplasia	Brachydactylous dwarfism, Mseleni type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2619	"" []	1155076	\N	\N	EFO	3	EFO	Rare genetic bone disease	Brachydactylous dwarfism, Mseleni type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2619	"" []	1155077	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Brachydactylous dwarfism, Mseleni type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2619	"" []	2037845	\N	\N	EFO	4	EFO	genetic disorder	Brachydactylous dwarfism, Mseleni type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2619	"" []	2037846	\N	\N	EFO	4	EFO	bone disease	Brachydactylous dwarfism, Mseleni type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2619	"" []	2037847	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactylous dwarfism, Mseleni type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2619	"" []	4395243	\N	\N	EFO	6	EFO	disease	Brachydactylous dwarfism, Mseleni type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2619	"" []	3188162	\N	\N	EFO	5	EFO	skeletal system disease	Brachydactylous dwarfism, Mseleni type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2619	"" []	3188163	\N	\N	EFO	5	EFO	genetic disorder	Brachydactylous dwarfism, Mseleni type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2619	"" []	5182249	\N	\N	EFO	7	EFO	disposition	Brachydactylous dwarfism, Mseleni type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2619	"" []	4395242	\N	\N	EFO	6	EFO	disease	Brachydactylous dwarfism, Mseleni type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2619	"" []	5997608	\N	\N	EFO	8	EFO	material property	Brachydactylous dwarfism, Mseleni type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2619	"" []	6550957	\N	\N	EFO	9	EFO	experimental factor	Brachydactylous dwarfism, Mseleni type
Orphanet:261902	\N	\N	"" []	Orphanet:261902	"" []	75289	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 6	Partial deletion of the short arm of chromosome 6
Orphanet:261791	Orphanet:261902	\N	"" []	Orphanet:261902	"" []	217759	\N	\N	EFO	1	EFO	Partial deletion of chromosome 6	Partial deletion of the short arm of chromosome 6
Orphanet:98142	Orphanet:261791	\N	"" []	Orphanet:261902	"" []	572634	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 6
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261902	"" []	1155078	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 6
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261902	"" []	2037848	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 6
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261902	"" []	3188164	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 6
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261902	"" []	4395244	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261902	"" []	5413249	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261902	"" []	6149823	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261902	"" []	6632843	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261902	"" []	6925703	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 6
Orphanet:261911	\N	\N	"" []	Orphanet:261911	"" []	75290	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 7	Partial deletion of the short arm of chromosome 7
Orphanet:261796	Orphanet:261911	\N	"" []	Orphanet:261911	"" []	217760	\N	\N	EFO	1	EFO	Partial deletion of chromosome 7	Partial deletion of the short arm of chromosome 7
Orphanet:98142	Orphanet:261796	\N	"" []	Orphanet:261911	"" []	572635	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 7
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261911	"" []	1155079	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 7
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261911	"" []	2037849	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 7
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261911	"" []	3188165	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 7
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261911	"" []	4395245	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261911	"" []	5413250	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261911	"" []	6149824	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261911	"" []	6632844	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261911	"" []	6925704	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 7
Orphanet:261920	\N	\N	"" []	Orphanet:261920	"" []	75291	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 8	Partial deletion of the short arm of chromosome 8
Orphanet:261801	Orphanet:261920	\N	"" []	Orphanet:261920	"" []	217761	\N	\N	EFO	1	EFO	Partial deletion of chromosome 8	Partial deletion of the short arm of chromosome 8
Orphanet:98142	Orphanet:261801	\N	"" []	Orphanet:261920	"" []	572636	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 8
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261920	"" []	1155080	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 8
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261920	"" []	2037850	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 8
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261920	"" []	3188166	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 8
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261920	"" []	4395246	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261920	"" []	5413251	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261920	"" []	6149825	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261920	"" []	6632845	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261920	"" []	6925705	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 8
Orphanet:261929	\N	\N	"" []	Orphanet:261929	"" []	75292	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 9	Partial deletion of the short arm of chromosome 9
Orphanet:261806	Orphanet:261929	\N	"" []	Orphanet:261929	"" []	217762	\N	\N	EFO	1	EFO	Partial deletion of chromosome 9	Partial deletion of the short arm of chromosome 9
Orphanet:98142	Orphanet:261806	\N	"" []	Orphanet:261929	"" []	572637	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 9
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261929	"" []	1155081	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 9
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261929	"" []	2037851	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 9
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261929	"" []	3188167	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 9
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261929	"" []	4395247	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261929	"" []	5413252	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261929	"" []	6149826	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261929	"" []	6632846	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261929	"" []	6925706	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 9
Orphanet:261938	\N	\N	"" []	Orphanet:261938	"" []	75293	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 10	Partial deletion of the short arm of chromosome 10
Orphanet:261811	Orphanet:261938	\N	"" []	Orphanet:261938	"" []	217763	\N	\N	EFO	1	EFO	Partial deletion of chromosome 10	Partial deletion of the short arm of chromosome 10
Orphanet:98142	Orphanet:261811	\N	"" []	Orphanet:261938	"" []	572638	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 10
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261938	"" []	1155082	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 10
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261938	"" []	2037852	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 10
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261938	"" []	3188168	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 10
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261938	"" []	4395248	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 10
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261938	"" []	5413253	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 10
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261938	"" []	6149827	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 10
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261938	"" []	6632847	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 10
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261938	"" []	6925707	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 10
Orphanet:261947	\N	\N	"" []	Orphanet:261947	"" []	75294	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 11	Partial deletion of the short arm of chromosome 11
Orphanet:261816	Orphanet:261947	\N	"" []	Orphanet:261947	"" []	217764	\N	\N	EFO	1	EFO	Partial deletion of chromosome 11	Partial deletion of the short arm of chromosome 11
Orphanet:98142	Orphanet:261816	\N	"" []	Orphanet:261947	"" []	572639	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 11
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261947	"" []	1155083	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 11
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261947	"" []	2037853	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 11
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261947	"" []	3188169	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 11
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261947	"" []	4395249	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261947	"" []	5413254	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261947	"" []	6149828	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261947	"" []	6632848	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261947	"" []	6925708	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 11
Orphanet:261956	\N	\N	"" []	Orphanet:261956	"" []	75295	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 16	Partial deletion of the short arm of chromosome 16
Orphanet:261826	Orphanet:261956	\N	"" []	Orphanet:261956	"" []	217765	\N	\N	EFO	1	EFO	Partial deletion of chromosome 16	Partial deletion of the short arm of chromosome 16
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:261956	"" []	572640	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 16
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261956	"" []	1155084	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 16
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261956	"" []	2037854	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 16
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261956	"" []	3188170	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 16
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261956	"" []	4395250	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261956	"" []	5413255	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261956	"" []	6149829	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261956	"" []	6632849	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261956	"" []	6925709	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 16
Orphanet:261965	\N	\N	"" []	Orphanet:261965	"" []	75296	\N	\N	EFO	0	EFO	Partial monosomy of the short arm of chromosome 17	Partial monosomy of the short arm of chromosome 17
Orphanet:261831	Orphanet:261965	\N	"" []	Orphanet:261965	"" []	217766	\N	\N	EFO	1	EFO	Partial deletion of chromosome 17	Partial monosomy of the short arm of chromosome 17
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:261965	"" []	572641	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial monosomy of the short arm of chromosome 17
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261965	"" []	1155085	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial monosomy of the short arm of chromosome 17
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261965	"" []	2037855	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial monosomy of the short arm of chromosome 17
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261965	"" []	3188171	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial monosomy of the short arm of chromosome 17
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261965	"" []	4395251	\N	\N	EFO	6	EFO	genetic disorder	Partial monosomy of the short arm of chromosome 17
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261965	"" []	5413256	\N	\N	EFO	7	EFO	disease	Partial monosomy of the short arm of chromosome 17
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261965	"" []	6149830	\N	\N	EFO	8	EFO	disposition	Partial monosomy of the short arm of chromosome 17
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261965	"" []	6632850	\N	\N	EFO	9	EFO	material property	Partial monosomy of the short arm of chromosome 17
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261965	"" []	6925710	\N	\N	EFO	10	EFO	experimental factor	Partial monosomy of the short arm of chromosome 17
Orphanet:261974	\N	\N	"" []	Orphanet:261974	"" []	75297	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 18	Partial deletion of the short arm of chromosome 18
Orphanet:261836	Orphanet:261974	\N	"" []	Orphanet:261974	"" []	217767	\N	\N	EFO	1	EFO	Partial deletion of chromosome 18	Partial deletion of the short arm of chromosome 18
Orphanet:98142	Orphanet:261836	\N	"" []	Orphanet:261974	"" []	572642	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 18
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261974	"" []	1155086	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 18
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261974	"" []	2037856	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 18
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261974	"" []	3188172	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 18
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261974	"" []	4395252	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 18
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261974	"" []	5413257	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 18
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261974	"" []	6149831	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 18
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261974	"" []	6632851	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 18
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261974	"" []	6925711	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 18
Orphanet:261983	\N	\N	"" []	Orphanet:261983	"" []	75298	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 19	Partial deletion of the short arm of chromosome 19
Orphanet:261841	Orphanet:261983	\N	"" []	Orphanet:261983	"" []	217768	\N	\N	EFO	1	EFO	Partial deletion of chromosome 19	Partial deletion of the short arm of chromosome 19
Orphanet:98142	Orphanet:261841	\N	"" []	Orphanet:261983	"" []	572643	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 19
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261983	"" []	1155087	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 19
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261983	"" []	2037857	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 19
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261983	"" []	3188173	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 19
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261983	"" []	4395253	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 19
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261983	"" []	5413258	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 19
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261983	"" []	6149832	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 19
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261983	"" []	6632852	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 19
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261983	"" []	6925712	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 19
Orphanet:261992	\N	\N	"" []	Orphanet:261992	"" []	75299	\N	\N	EFO	0	EFO	Partial monosomy of the short arm of chromosome 20	Partial monosomy of the short arm of chromosome 20
Orphanet:261846	Orphanet:261992	\N	"" []	Orphanet:261992	"" []	217769	\N	\N	EFO	1	EFO	Partial deletion of chromosome 20	Partial monosomy of the short arm of chromosome 20
Orphanet:98142	Orphanet:261846	\N	"" []	Orphanet:261992	"" []	572644	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial monosomy of the short arm of chromosome 20
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:261992	"" []	1155088	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial monosomy of the short arm of chromosome 20
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:261992	"" []	2037858	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial monosomy of the short arm of chromosome 20
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:261992	"" []	3188174	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial monosomy of the short arm of chromosome 20
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:261992	"" []	4395254	\N	\N	EFO	6	EFO	genetic disorder	Partial monosomy of the short arm of chromosome 20
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:261992	"" []	5413259	\N	\N	EFO	7	EFO	disease	Partial monosomy of the short arm of chromosome 20
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:261992	"" []	6149833	\N	\N	EFO	8	EFO	disposition	Partial monosomy of the short arm of chromosome 20
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:261992	"" []	6632853	\N	\N	EFO	9	EFO	material property	Partial monosomy of the short arm of chromosome 20
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:261992	"" []	6925713	\N	\N	EFO	10	EFO	experimental factor	Partial monosomy of the short arm of chromosome 20
Orphanet:262	\N	\N	"" []	Orphanet:262	"" []	75300	\N	\N	EFO	0	EFO	Duchenne and Becker muscular dystrophy	Duchenne and Becker muscular dystrophy
Orphanet:206644	Orphanet:262	\N	"" []	Orphanet:262	"" []	217770	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	Duchenne and Becker muscular dystrophy
Orphanet:217610	Orphanet:262	\N	"" []	Orphanet:262	"" []	217771	\N	\N	EFO	1	EFO	Neuromuscular disease with dilated cardiomyopathy	Duchenne and Becker muscular dystrophy
Orphanet:98464	Orphanet:262	\N	"" []	Orphanet:262	"" []	217772	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Duchenne and Becker muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:262	"" []	572645	\N	\N	EFO	2	EFO	Muscular dystrophy	Duchenne and Becker muscular dystrophy
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:262	"" []	572646	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Duchenne and Becker muscular dystrophy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:262	"" []	572647	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Duchenne and Becker muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:262	"" []	1155089	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Duchenne and Becker muscular dystrophy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:262	"" []	1155090	\N	\N	EFO	3	EFO	cardiomyopathy	Duchenne and Becker muscular dystrophy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:262	"" []	1155091	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Duchenne and Becker muscular dystrophy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:262	"" []	1155092	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Duchenne and Becker muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:262	"" []	2037859	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Duchenne and Becker muscular dystrophy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:262	"" []	2037860	\N	\N	EFO	4	EFO	heart disease	Duchenne and Becker muscular dystrophy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262	"" []	2037861	\N	\N	EFO	4	EFO	genetic disorder	Duchenne and Becker muscular dystrophy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:262	"" []	2037862	\N	\N	EFO	4	EFO	heart disease	Duchenne and Becker muscular dystrophy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:262	"" []	2037863	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Duchenne and Becker muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:262	"" []	3188175	\N	\N	EFO	5	EFO	muscular disease	Duchenne and Becker muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:262	"" []	3188176	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Duchenne and Becker muscular dystrophy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:262	"" []	3188177	\N	\N	EFO	5	EFO	cardiovascular disease	Duchenne and Becker muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262	"" []	5182251	\N	\N	EFO	7	EFO	disease	Duchenne and Becker muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262	"" []	4395256	\N	\N	EFO	6	EFO	genetic disorder	Duchenne and Becker muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:262	"" []	4395255	\N	\N	EFO	6	EFO	skeletal system disease	Duchenne and Becker muscular dystrophy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262	"" []	4395257	\N	\N	EFO	6	EFO	disease	Duchenne and Becker muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262	"" []	5877132	\N	\N	EFO	8	EFO	disposition	Duchenne and Becker muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262	"" []	5413260	\N	\N	EFO	7	EFO	disease	Duchenne and Becker muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262	"" []	6470353	\N	\N	EFO	9	EFO	material property	Duchenne and Becker muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262	"" []	6848482	\N	\N	EFO	10	EFO	experimental factor	Duchenne and Becker muscular dystrophy
Orphanet:262001	\N	\N	"" []	Orphanet:262001	"" []	75301	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 1	Partial deletion of the long arm of chromosome 1
Orphanet:261766	Orphanet:262001	\N	"" []	Orphanet:262001	"" []	217773	\N	\N	EFO	1	EFO	Partial deletion of chromosome 1	Partial deletion of the long arm of chromosome 1
Orphanet:98142	Orphanet:261766	\N	"" []	Orphanet:262001	"" []	572648	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 1
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262001	"" []	1155093	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 1
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262001	"" []	2037864	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262001	"" []	3188180	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262001	"" []	4395260	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262001	"" []	5413262	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262001	"" []	6149835	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262001	"" []	6632854	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262001	"" []	6925714	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 1
Orphanet:262010	\N	\N	"" []	Orphanet:262010	"" []	75302	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 2	Partial deletion of the long arm of chromosome 2
Orphanet:261771	Orphanet:262010	\N	"" []	Orphanet:262010	"" []	217774	\N	\N	EFO	1	EFO	Partial deletion of chromosome 2	Partial deletion of the long arm of chromosome 2
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:262010	"" []	572649	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 2
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262010	"" []	1155094	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 2
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262010	"" []	2037865	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 2
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262010	"" []	3188181	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 2
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262010	"" []	4395261	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262010	"" []	5413263	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262010	"" []	6149836	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262010	"" []	6632855	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262010	"" []	6925715	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 2
Orphanet:262019	\N	\N	"" []	Orphanet:262019	"" []	75303	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 3	Partial deletion of the long arm of chromosome 3
Orphanet:261776	Orphanet:262019	\N	"" []	Orphanet:262019	"" []	217775	\N	\N	EFO	1	EFO	Partial deletion of chromosome 3	Partial deletion of the long arm of chromosome 3
Orphanet:98142	Orphanet:261776	\N	"" []	Orphanet:262019	"" []	572650	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 3
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262019	"" []	1155095	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 3
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262019	"" []	2037866	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 3
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262019	"" []	3188182	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 3
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262019	"" []	4395262	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262019	"" []	5413264	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262019	"" []	6149837	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262019	"" []	6632856	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262019	"" []	6925716	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 3
Orphanet:262029	\N	\N	"" []	Orphanet:262029	"" []	75304	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 4	Partial deletion of the long arm of chromosome 4
Orphanet:261781	Orphanet:262029	\N	"" []	Orphanet:262029	"" []	217776	\N	\N	EFO	1	EFO	Partial deletion of chromosome 4	Partial deletion of the long arm of chromosome 4
Orphanet:98142	Orphanet:261781	\N	"" []	Orphanet:262029	"" []	572651	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 4
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262029	"" []	1155096	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 4
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262029	"" []	2037867	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 4
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262029	"" []	3188183	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 4
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262029	"" []	4395263	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262029	"" []	5413265	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262029	"" []	6149838	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262029	"" []	6632857	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262029	"" []	6925717	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 4
Orphanet:262038	\N	\N	"" []	Orphanet:262038	"" []	75305	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 5	Partial deletion of the long arm of chromosome 5
Orphanet:261786	Orphanet:262038	\N	"" []	Orphanet:262038	"" []	217777	\N	\N	EFO	1	EFO	Partial deletion of chromosome 5	Partial deletion of the long arm of chromosome 5
Orphanet:98142	Orphanet:261786	\N	"" []	Orphanet:262038	"" []	572652	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 5
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262038	"" []	1155097	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 5
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262038	"" []	2037868	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 5
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262038	"" []	3188184	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 5
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262038	"" []	4395264	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262038	"" []	5413266	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262038	"" []	6149839	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262038	"" []	6632858	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262038	"" []	6925718	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 5
Orphanet:262047	\N	\N	"" []	Orphanet:262047	"" []	75306	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 6	Partial deletion of the long arm of chromosome 6
Orphanet:261791	Orphanet:262047	\N	"" []	Orphanet:262047	"" []	217778	\N	\N	EFO	1	EFO	Partial deletion of chromosome 6	Partial deletion of the long arm of chromosome 6
Orphanet:98142	Orphanet:261791	\N	"" []	Orphanet:262047	"" []	572653	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 6
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262047	"" []	1155098	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 6
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262047	"" []	2037869	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 6
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262047	"" []	3188185	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 6
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262047	"" []	4395265	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262047	"" []	5413267	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262047	"" []	6149840	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262047	"" []	6632859	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262047	"" []	6925719	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 6
Orphanet:262056	\N	\N	"" []	Orphanet:262056	"" []	75307	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 7	Partial deletion of the long arm of chromosome 7
Orphanet:261796	Orphanet:262056	\N	"" []	Orphanet:262056	"" []	217779	\N	\N	EFO	1	EFO	Partial deletion of chromosome 7	Partial deletion of the long arm of chromosome 7
Orphanet:98142	Orphanet:261796	\N	"" []	Orphanet:262056	"" []	572654	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 7
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262056	"" []	1155099	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 7
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262056	"" []	2037870	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 7
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262056	"" []	3188186	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 7
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262056	"" []	4395266	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262056	"" []	5413268	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262056	"" []	6149841	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262056	"" []	6632860	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262056	"" []	6925720	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 7
Orphanet:262065	\N	\N	"" []	Orphanet:262065	"" []	75308	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 8	Partial deletion of the long arm of chromosome 8
Orphanet:261801	Orphanet:262065	\N	"" []	Orphanet:262065	"" []	217780	\N	\N	EFO	1	EFO	Partial deletion of chromosome 8	Partial deletion of the long arm of chromosome 8
Orphanet:98142	Orphanet:261801	\N	"" []	Orphanet:262065	"" []	572655	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 8
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262065	"" []	1155100	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 8
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262065	"" []	2037871	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 8
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262065	"" []	3188187	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 8
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262065	"" []	4395267	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262065	"" []	5413269	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262065	"" []	6149842	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262065	"" []	6632861	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262065	"" []	6925721	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 8
Orphanet:262074	\N	\N	"" []	Orphanet:262074	"" []	75309	\N	\N	EFO	0	EFO	Partial monosomy of the long arm of chromosome 9	Partial monosomy of the long arm of chromosome 9
Orphanet:261806	Orphanet:262074	\N	"" []	Orphanet:262074	"" []	217781	\N	\N	EFO	1	EFO	Partial deletion of chromosome 9	Partial monosomy of the long arm of chromosome 9
Orphanet:98142	Orphanet:261806	\N	"" []	Orphanet:262074	"" []	572656	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial monosomy of the long arm of chromosome 9
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262074	"" []	1155101	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial monosomy of the long arm of chromosome 9
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262074	"" []	2037872	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial monosomy of the long arm of chromosome 9
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262074	"" []	3188188	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial monosomy of the long arm of chromosome 9
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262074	"" []	4395268	\N	\N	EFO	6	EFO	genetic disorder	Partial monosomy of the long arm of chromosome 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262074	"" []	5413270	\N	\N	EFO	7	EFO	disease	Partial monosomy of the long arm of chromosome 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262074	"" []	6149843	\N	\N	EFO	8	EFO	disposition	Partial monosomy of the long arm of chromosome 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262074	"" []	6632862	\N	\N	EFO	9	EFO	material property	Partial monosomy of the long arm of chromosome 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262074	"" []	6925722	\N	\N	EFO	10	EFO	experimental factor	Partial monosomy of the long arm of chromosome 9
Orphanet:262083	\N	\N	"" []	Orphanet:262083	"" []	75310	\N	\N	EFO	0	EFO	Partial monosomy of the long arm of chromosome 10	Partial monosomy of the long arm of chromosome 10
Orphanet:261811	Orphanet:262083	\N	"" []	Orphanet:262083	"" []	217782	\N	\N	EFO	1	EFO	Partial deletion of chromosome 10	Partial monosomy of the long arm of chromosome 10
Orphanet:98142	Orphanet:261811	\N	"" []	Orphanet:262083	"" []	572657	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial monosomy of the long arm of chromosome 10
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262083	"" []	1155102	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial monosomy of the long arm of chromosome 10
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262083	"" []	2037873	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial monosomy of the long arm of chromosome 10
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262083	"" []	3188189	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial monosomy of the long arm of chromosome 10
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262083	"" []	4395269	\N	\N	EFO	6	EFO	genetic disorder	Partial monosomy of the long arm of chromosome 10
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262083	"" []	5413271	\N	\N	EFO	7	EFO	disease	Partial monosomy of the long arm of chromosome 10
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262083	"" []	6149844	\N	\N	EFO	8	EFO	disposition	Partial monosomy of the long arm of chromosome 10
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262083	"" []	6632863	\N	\N	EFO	9	EFO	material property	Partial monosomy of the long arm of chromosome 10
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262083	"" []	6925723	\N	\N	EFO	10	EFO	experimental factor	Partial monosomy of the long arm of chromosome 10
Orphanet:262092	\N	\N	"" []	Orphanet:262092	"" []	75311	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 11	Partial deletion of the long arm of chromosome 11
Orphanet:261816	Orphanet:262092	\N	"" []	Orphanet:262092	"" []	217783	\N	\N	EFO	1	EFO	Partial deletion of chromosome 11	Partial deletion of the long arm of chromosome 11
Orphanet:98142	Orphanet:261816	\N	"" []	Orphanet:262092	"" []	572658	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 11
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262092	"" []	1155103	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 11
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262092	"" []	2037874	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 11
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262092	"" []	3188190	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 11
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262092	"" []	4395270	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262092	"" []	5413272	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262092	"" []	6149845	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262092	"" []	6632864	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262092	"" []	6925724	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 11
Orphanet:2621	\N	\N	"" []	Orphanet:2621	"" []	75312	\N	\N	EFO	0	EFO	Low birth weight - dwarfism - dysgammaglobulinemia	Low birth weight - dwarfism - dysgammaglobulinemia
Orphanet:331244	Orphanet:2621	\N	"" []	Orphanet:2621	"" []	217784	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome with predominantly antibody defects	Low birth weight - dwarfism - dysgammaglobulinemia
Orphanet:101977	Orphanet:331244	\N	"" []	Orphanet:2621	"" []	572659	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Low birth weight - dwarfism - dysgammaglobulinemia
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:2621	"" []	1155104	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Low birth weight - dwarfism - dysgammaglobulinemia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:2621	"" []	2037875	\N	\N	EFO	4	EFO	Primary immunodeficiency	Low birth weight - dwarfism - dysgammaglobulinemia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:2621	"" []	3188191	\N	\N	EFO	5	EFO	Rare genetic immune disease	Low birth weight - dwarfism - dysgammaglobulinemia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2621	"" []	4395271	\N	\N	EFO	6	EFO	genetic disorder	Low birth weight - dwarfism - dysgammaglobulinemia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:2621	"" []	4395272	\N	\N	EFO	6	EFO	immune system disease	Low birth weight - dwarfism - dysgammaglobulinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2621	"" []	5413273	\N	\N	EFO	7	EFO	disease	Low birth weight - dwarfism - dysgammaglobulinemia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2621	"" []	5413274	\N	\N	EFO	7	EFO	disease	Low birth weight - dwarfism - dysgammaglobulinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2621	"" []	6149846	\N	\N	EFO	8	EFO	disposition	Low birth weight - dwarfism - dysgammaglobulinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2621	"" []	6632865	\N	\N	EFO	9	EFO	material property	Low birth weight - dwarfism - dysgammaglobulinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2621	"" []	6925725	\N	\N	EFO	10	EFO	experimental factor	Low birth weight - dwarfism - dysgammaglobulinemia
Orphanet:262101	\N	\N	"" []	Orphanet:262101	"" []	75313	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 13	Partial deletion of the long arm of chromosome 13
Orphanet:98142	Orphanet:262101	\N	"" []	Orphanet:262101	"" []	217785	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 13
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262101	"" []	572660	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 13
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262101	"" []	1155105	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 13
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262101	"" []	2037876	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 13
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262101	"" []	3188192	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of the long arm of chromosome 13
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262101	"" []	4395273	\N	\N	EFO	6	EFO	disease	Partial deletion of the long arm of chromosome 13
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262101	"" []	5413275	\N	\N	EFO	7	EFO	disposition	Partial deletion of the long arm of chromosome 13
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262101	"" []	6149847	\N	\N	EFO	8	EFO	material property	Partial deletion of the long arm of chromosome 13
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262101	"" []	6632866	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of the long arm of chromosome 13
Orphanet:262110	\N	\N	"" []	Orphanet:262110	"" []	75314	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 14	Partial deletion of the long arm of chromosome 14
Orphanet:98142	Orphanet:262110	\N	"" []	Orphanet:262110	"" []	217786	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 14
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262110	"" []	572661	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 14
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262110	"" []	1155106	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 14
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262110	"" []	2037877	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 14
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262110	"" []	3188193	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of the long arm of chromosome 14
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262110	"" []	4395274	\N	\N	EFO	6	EFO	disease	Partial deletion of the long arm of chromosome 14
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262110	"" []	5413276	\N	\N	EFO	7	EFO	disposition	Partial deletion of the long arm of chromosome 14
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262110	"" []	6149848	\N	\N	EFO	8	EFO	material property	Partial deletion of the long arm of chromosome 14
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262110	"" []	6632867	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of the long arm of chromosome 14
Orphanet:262119	\N	\N	"" []	Orphanet:262119	"" []	75315	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 15	Partial deletion of the long arm of chromosome 15
Orphanet:98142	Orphanet:262119	\N	"" []	Orphanet:262119	"" []	217787	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 15
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262119	"" []	572662	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 15
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262119	"" []	1155107	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 15
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262119	"" []	2037878	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 15
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262119	"" []	3188194	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of the long arm of chromosome 15
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262119	"" []	4395275	\N	\N	EFO	6	EFO	disease	Partial deletion of the long arm of chromosome 15
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262119	"" []	5413277	\N	\N	EFO	7	EFO	disposition	Partial deletion of the long arm of chromosome 15
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262119	"" []	6149849	\N	\N	EFO	8	EFO	material property	Partial deletion of the long arm of chromosome 15
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262119	"" []	6632868	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of the long arm of chromosome 15
Orphanet:262128	\N	\N	"" []	Orphanet:262128	"" []	75316	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 16	Partial deletion of the long arm of chromosome 16
Orphanet:261826	Orphanet:262128	\N	"" []	Orphanet:262128	"" []	217788	\N	\N	EFO	1	EFO	Partial deletion of chromosome 16	Partial deletion of the long arm of chromosome 16
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:262128	"" []	572663	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 16
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262128	"" []	1155108	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 16
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262128	"" []	2037879	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 16
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262128	"" []	3188195	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 16
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262128	"" []	4395276	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262128	"" []	5413278	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262128	"" []	6149850	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262128	"" []	6632869	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262128	"" []	6925726	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 16
Orphanet:262137	\N	\N	"" []	Orphanet:262137	"" []	75317	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 17	Partial deletion of the long arm of chromosome 17
Orphanet:261831	Orphanet:262137	\N	"" []	Orphanet:262137	"" []	217789	\N	\N	EFO	1	EFO	Partial deletion of chromosome 17	Partial deletion of the long arm of chromosome 17
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:262137	"" []	572664	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 17
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262137	"" []	1155109	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 17
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262137	"" []	2037880	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 17
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262137	"" []	3188196	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 17
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262137	"" []	4395277	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 17
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262137	"" []	5413279	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 17
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262137	"" []	6149851	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 17
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262137	"" []	6632870	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 17
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262137	"" []	6925727	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 17
Orphanet:262146	\N	\N	"" []	Orphanet:262146	"" []	75318	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 18	Partial deletion of the long arm of chromosome 18
Orphanet:261836	Orphanet:262146	\N	"" []	Orphanet:262146	"" []	217790	\N	\N	EFO	1	EFO	Partial deletion of chromosome 18	Partial deletion of the long arm of chromosome 18
Orphanet:98142	Orphanet:261836	\N	"" []	Orphanet:262146	"" []	572665	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 18
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262146	"" []	1155110	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 18
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262146	"" []	2037881	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 18
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262146	"" []	3188197	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 18
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262146	"" []	4395278	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 18
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262146	"" []	5413280	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 18
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262146	"" []	6149852	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 18
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262146	"" []	6632871	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 18
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262146	"" []	6925728	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 18
Orphanet:262155	\N	\N	"" []	Orphanet:262155	"" []	75319	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 19	Partial deletion of the long arm of chromosome 19
Orphanet:261841	Orphanet:262155	\N	"" []	Orphanet:262155	"" []	217791	\N	\N	EFO	1	EFO	Partial deletion of chromosome 19	Partial deletion of the long arm of chromosome 19
Orphanet:98142	Orphanet:261841	\N	"" []	Orphanet:262155	"" []	572666	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 19
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262155	"" []	1155111	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 19
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262155	"" []	2037882	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 19
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262155	"" []	3188198	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 19
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262155	"" []	4395279	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 19
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262155	"" []	5413281	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 19
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262155	"" []	6149853	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 19
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262155	"" []	6632872	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 19
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262155	"" []	6925729	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 19
Orphanet:262164	\N	\N	"" []	Orphanet:262164	"" []	75320	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 20	Partial deletion of the long arm of chromosome 20
Orphanet:261846	Orphanet:262164	\N	"" []	Orphanet:262164	"" []	217792	\N	\N	EFO	1	EFO	Partial deletion of chromosome 20	Partial deletion of the long arm of chromosome 20
Orphanet:98142	Orphanet:261846	\N	"" []	Orphanet:262164	"" []	572667	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 20
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262164	"" []	1155112	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 20
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262164	"" []	2037883	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 20
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262164	"" []	3188199	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 20
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262164	"" []	4395280	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome 20
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262164	"" []	5413282	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome 20
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262164	"" []	6149854	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome 20
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262164	"" []	6632873	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome 20
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262164	"" []	6925730	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome 20
Orphanet:262173	\N	\N	"" []	Orphanet:262173	"" []	75321	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 21	Partial deletion of the long arm of chromosome 21
Orphanet:98142	Orphanet:262173	\N	"" []	Orphanet:262173	"" []	217793	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 21
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262173	"" []	572668	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 21
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262173	"" []	1155113	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 21
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262173	"" []	2037884	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 21
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262173	"" []	3188200	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of the long arm of chromosome 21
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262173	"" []	4395281	\N	\N	EFO	6	EFO	disease	Partial deletion of the long arm of chromosome 21
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262173	"" []	5413283	\N	\N	EFO	7	EFO	disposition	Partial deletion of the long arm of chromosome 21
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262173	"" []	6149855	\N	\N	EFO	8	EFO	material property	Partial deletion of the long arm of chromosome 21
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262173	"" []	6632874	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of the long arm of chromosome 21
Orphanet:262182	\N	\N	"" []	Orphanet:262182	"" []	75322	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome 22	Partial deletion of the long arm of chromosome 22
Orphanet:98142	Orphanet:262182	\N	"" []	Orphanet:262182	"" []	217794	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of the long arm of chromosome 22
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:262182	"" []	572669	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of the long arm of chromosome 22
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:262182	"" []	1155114	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of the long arm of chromosome 22
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262182	"" []	2037885	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome 22
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262182	"" []	3188201	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of the long arm of chromosome 22
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262182	"" []	4395282	\N	\N	EFO	6	EFO	disease	Partial deletion of the long arm of chromosome 22
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262182	"" []	5413284	\N	\N	EFO	7	EFO	disposition	Partial deletion of the long arm of chromosome 22
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262182	"" []	6149856	\N	\N	EFO	8	EFO	material property	Partial deletion of the long arm of chromosome 22
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262182	"" []	6632875	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of the long arm of chromosome 22
Orphanet:262191	\N	\N	"" []	Orphanet:262191	"" []	75323	\N	\N	EFO	0	EFO	Partial duplication of chromosome 1	Partial duplication of chromosome 1
Orphanet:98132	Orphanet:262191	\N	"" []	Orphanet:262191	"" []	217795	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of chromosome 1
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262191	"" []	572670	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of chromosome 1
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262191	"" []	1155115	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of chromosome 1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262191	"" []	2037886	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262191	"" []	3188202	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262191	"" []	4395283	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262191	"" []	5413285	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262191	"" []	6149857	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262191	"" []	6632876	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome 1
Orphanet:262196	\N	\N	"" []	Orphanet:262196	"" []	75324	\N	\N	EFO	0	EFO	Partial duplication of chromosome 2	Partial duplication of chromosome 2
Orphanet:98132	Orphanet:262196	\N	"" []	Orphanet:262196	"" []	217796	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of chromosome 2
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262196	"" []	572671	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of chromosome 2
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262196	"" []	1155116	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of chromosome 2
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262196	"" []	2037887	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome 2
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262196	"" []	3188203	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262196	"" []	4395284	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262196	"" []	5413286	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262196	"" []	6149858	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262196	"" []	6632877	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome 2
Orphanet:262201	\N	\N	"" []	Orphanet:262201	"" []	75325	\N	\N	EFO	0	EFO	Partial duplication of chromosome 3	Partial duplication of chromosome 3
Orphanet:98132	Orphanet:262201	\N	"" []	Orphanet:262201	"" []	217797	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of chromosome 3
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262201	"" []	572672	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of chromosome 3
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262201	"" []	1155117	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of chromosome 3
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262201	"" []	2037888	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome 3
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262201	"" []	3188204	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262201	"" []	4395285	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262201	"" []	5413287	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262201	"" []	6149859	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262201	"" []	6632878	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome 3
Orphanet:262206	\N	\N	"" []	Orphanet:262206	"" []	75326	\N	\N	EFO	0	EFO	Partial duplication of chromosome 4	Partial duplication of chromosome 4
Orphanet:98132	Orphanet:262206	\N	"" []	Orphanet:262206	"" []	217798	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of chromosome 4
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262206	"" []	572673	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of chromosome 4
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262206	"" []	1155118	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of chromosome 4
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262206	"" []	2037889	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome 4
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262206	"" []	3188205	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262206	"" []	4395286	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262206	"" []	5413288	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262206	"" []	6149860	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262206	"" []	6632879	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome 4
Orphanet:262211	\N	\N	"" []	Orphanet:262211	"" []	75327	\N	\N	EFO	0	EFO	Partial trisomy/tetrasomy of chromosome 5	Partial trisomy/tetrasomy of chromosome 5
Orphanet:98132	Orphanet:262211	\N	"" []	Orphanet:262211	"" []	217799	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy/tetrasomy of chromosome 5
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262211	"" []	572674	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial trisomy/tetrasomy of chromosome 5
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262211	"" []	1155119	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial trisomy/tetrasomy of chromosome 5
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262211	"" []	2037890	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial trisomy/tetrasomy of chromosome 5
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262211	"" []	3188206	\N	\N	EFO	5	EFO	genetic disorder	Partial trisomy/tetrasomy of chromosome 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262211	"" []	4395287	\N	\N	EFO	6	EFO	disease	Partial trisomy/tetrasomy of chromosome 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262211	"" []	5413289	\N	\N	EFO	7	EFO	disposition	Partial trisomy/tetrasomy of chromosome 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262211	"" []	6149861	\N	\N	EFO	8	EFO	material property	Partial trisomy/tetrasomy of chromosome 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262211	"" []	6632880	\N	\N	EFO	9	EFO	experimental factor	Partial trisomy/tetrasomy of chromosome 5
Orphanet:2623	\N	\N	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	75328	\N	\N	EFO	0	EFO	Geleophysic dysplasia	Geleophysic dysplasia
Orphanet:93436	Orphanet:2623	\N	"" []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	217800	\N	\N	EFO	1	EFO	Acromelic dysplasia	Geleophysic dysplasia
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	572675	\N	\N	EFO	2	EFO	Primary bone dysplasia	Geleophysic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	1155120	\N	\N	EFO	3	EFO	Rare genetic bone disease	Geleophysic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	1155121	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Geleophysic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	2037891	\N	\N	EFO	4	EFO	genetic disorder	Geleophysic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	2037892	\N	\N	EFO	4	EFO	bone disease	Geleophysic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	2037893	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Geleophysic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	4395290	\N	\N	EFO	6	EFO	disease	Geleophysic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	3188208	\N	\N	EFO	5	EFO	skeletal system disease	Geleophysic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	3188209	\N	\N	EFO	5	EFO	genetic disorder	Geleophysic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	5182252	\N	\N	EFO	7	EFO	disposition	Geleophysic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	4395289	\N	\N	EFO	6	EFO	disease	Geleophysic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	5997610	\N	\N	EFO	8	EFO	material property	Geleophysic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2623	"Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \\"happy'')." []	6550959	\N	\N	EFO	9	EFO	experimental factor	Geleophysic dysplasia
Orphanet:262628	\N	\N	"" []	Orphanet:262628	"" []	75329	\N	\N	EFO	0	EFO	Partial duplication of chromosome 6	Partial duplication of chromosome 6
Orphanet:98132	Orphanet:262628	\N	"" []	Orphanet:262628	"" []	217801	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of chromosome 6
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262628	"" []	572676	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of chromosome 6
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262628	"" []	1155122	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of chromosome 6
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262628	"" []	2037894	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome 6
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262628	"" []	3188210	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262628	"" []	4395291	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262628	"" []	5413291	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262628	"" []	6149863	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262628	"" []	6632881	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome 6
Orphanet:262633	\N	\N	"" []	Orphanet:262633	"" []	75330	\N	\N	EFO	0	EFO	Partial duplication of chromosome 7	Partial duplication of chromosome 7
Orphanet:98132	Orphanet:262633	\N	"" []	Orphanet:262633	"" []	217802	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of chromosome 7
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262633	"" []	572677	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of chromosome 7
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262633	"" []	1155123	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of chromosome 7
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262633	"" []	2037895	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome 7
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262633	"" []	3188211	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262633	"" []	4395292	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262633	"" []	5413292	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262633	"" []	6149864	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262633	"" []	6632882	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome 7
Orphanet:262638	\N	\N	"" []	Orphanet:262638	"" []	75331	\N	\N	EFO	0	EFO	Partial duplication of chromosome 8	Partial duplication of chromosome 8
Orphanet:98132	Orphanet:262638	\N	"" []	Orphanet:262638	"" []	217803	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of chromosome 8
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262638	"" []	572678	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of chromosome 8
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262638	"" []	1155124	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of chromosome 8
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262638	"" []	2037896	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome 8
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262638	"" []	3188212	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262638	"" []	4395293	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262638	"" []	5413293	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262638	"" []	6149865	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262638	"" []	6632883	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome 8
Orphanet:262643	\N	\N	"" []	Orphanet:262643	"" []	75332	\N	\N	EFO	0	EFO	Partial trisomy/tetrasomy of chromosome 9	Partial trisomy/tetrasomy of chromosome 9
Orphanet:98132	Orphanet:262643	\N	"" []	Orphanet:262643	"" []	217804	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy/tetrasomy of chromosome 9
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262643	"" []	572679	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial trisomy/tetrasomy of chromosome 9
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262643	"" []	1155125	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial trisomy/tetrasomy of chromosome 9
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262643	"" []	2037897	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial trisomy/tetrasomy of chromosome 9
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262643	"" []	3188213	\N	\N	EFO	5	EFO	genetic disorder	Partial trisomy/tetrasomy of chromosome 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262643	"" []	4395294	\N	\N	EFO	6	EFO	disease	Partial trisomy/tetrasomy of chromosome 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262643	"" []	5413294	\N	\N	EFO	7	EFO	disposition	Partial trisomy/tetrasomy of chromosome 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262643	"" []	6149866	\N	\N	EFO	8	EFO	material property	Partial trisomy/tetrasomy of chromosome 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262643	"" []	6632884	\N	\N	EFO	9	EFO	experimental factor	Partial trisomy/tetrasomy of chromosome 9
Orphanet:262648	\N	\N	"" []	Orphanet:262648	"" []	75333	\N	\N	EFO	0	EFO	Partial duplication of chromosome 10	Partial duplication of chromosome 10
Orphanet:98132	Orphanet:262648	\N	"" []	Orphanet:262648	"" []	217805	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of chromosome 10
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262648	"" []	572680	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of chromosome 10
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262648	"" []	1155126	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of chromosome 10
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262648	"" []	2037898	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome 10
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262648	"" []	3188214	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome 10
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262648	"" []	4395295	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome 10
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262648	"" []	5413295	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome 10
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262648	"" []	6149867	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome 10
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262648	"" []	6632885	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome 10
Orphanet:262653	\N	\N	"" []	Orphanet:262653	"" []	75334	\N	\N	EFO	0	EFO	Partial duplication of chromosome 11	Partial duplication of chromosome 11
Orphanet:98132	Orphanet:262653	\N	"" []	Orphanet:262653	"" []	217806	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of chromosome 11
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262653	"" []	572681	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of chromosome 11
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262653	"" []	1155127	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of chromosome 11
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262653	"" []	2037899	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome 11
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262653	"" []	3188215	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262653	"" []	4395296	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262653	"" []	5413296	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262653	"" []	6149868	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262653	"" []	6632886	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome 11
Orphanet:262658	\N	\N	"" []	Orphanet:262658	"" []	75335	\N	\N	EFO	0	EFO	Partial trisomy/tetrasomy of the short arm of chromosome 12	Partial trisomy/tetrasomy of the short arm of chromosome 12
Orphanet:98132	Orphanet:262658	\N	"" []	Orphanet:262658	"" []	217807	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy/tetrasomy of the short arm of chromosome 12
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262658	"" []	572682	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial trisomy/tetrasomy of the short arm of chromosome 12
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262658	"" []	1155128	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial trisomy/tetrasomy of the short arm of chromosome 12
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262658	"" []	2037900	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial trisomy/tetrasomy of the short arm of chromosome 12
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262658	"" []	3188216	\N	\N	EFO	5	EFO	genetic disorder	Partial trisomy/tetrasomy of the short arm of chromosome 12
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262658	"" []	4395297	\N	\N	EFO	6	EFO	disease	Partial trisomy/tetrasomy of the short arm of chromosome 12
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262658	"" []	5413297	\N	\N	EFO	7	EFO	disposition	Partial trisomy/tetrasomy of the short arm of chromosome 12
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262658	"" []	6149869	\N	\N	EFO	8	EFO	material property	Partial trisomy/tetrasomy of the short arm of chromosome 12
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262658	"" []	6632887	\N	\N	EFO	9	EFO	experimental factor	Partial trisomy/tetrasomy of the short arm of chromosome 12
Orphanet:262672	\N	\N	"" []	Orphanet:262672	"" []	75336	\N	\N	EFO	0	EFO	Partial duplication of chromosome 16	Partial duplication of chromosome 16
Orphanet:98132	Orphanet:262672	\N	"" []	Orphanet:262672	"" []	217808	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of chromosome 16
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262672	"" []	572683	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of chromosome 16
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262672	"" []	1155129	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of chromosome 16
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262672	"" []	2037901	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome 16
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262672	"" []	3188217	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome 16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262672	"" []	4395298	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome 16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262672	"" []	5413298	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome 16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262672	"" []	6149870	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome 16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262672	"" []	6632888	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome 16
Orphanet:262677	\N	\N	"" []	Orphanet:262677	"" []	75337	\N	\N	EFO	0	EFO	Partial duplication of chromosome 17	Partial duplication of chromosome 17
Orphanet:98132	Orphanet:262677	\N	"" []	Orphanet:262677	"" []	217809	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of chromosome 17
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262677	"" []	572684	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of chromosome 17
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262677	"" []	1155130	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of chromosome 17
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262677	"" []	2037902	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome 17
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262677	"" []	3188218	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome 17
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262677	"" []	4395299	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome 17
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262677	"" []	5413299	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome 17
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262677	"" []	6149871	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome 17
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262677	"" []	6632889	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome 17
Orphanet:262682	\N	\N	"" []	Orphanet:262682	"" []	75338	\N	\N	EFO	0	EFO	Partial trisomy/tetrasomy of chromosome 18	Partial trisomy/tetrasomy of chromosome 18
Orphanet:98132	Orphanet:262682	\N	"" []	Orphanet:262682	"" []	217810	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy/tetrasomy of chromosome 18
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262682	"" []	572685	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial trisomy/tetrasomy of chromosome 18
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262682	"" []	1155131	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial trisomy/tetrasomy of chromosome 18
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262682	"" []	2037903	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial trisomy/tetrasomy of chromosome 18
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262682	"" []	3188219	\N	\N	EFO	5	EFO	genetic disorder	Partial trisomy/tetrasomy of chromosome 18
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262682	"" []	4395300	\N	\N	EFO	6	EFO	disease	Partial trisomy/tetrasomy of chromosome 18
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262682	"" []	5413300	\N	\N	EFO	7	EFO	disposition	Partial trisomy/tetrasomy of chromosome 18
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262682	"" []	6149872	\N	\N	EFO	8	EFO	material property	Partial trisomy/tetrasomy of chromosome 18
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262682	"" []	6632890	\N	\N	EFO	9	EFO	experimental factor	Partial trisomy/tetrasomy of chromosome 18
Orphanet:262687	\N	\N	"" []	Orphanet:262687	"" []	75339	\N	\N	EFO	0	EFO	Partial duplication of chromosome 19	Partial duplication of chromosome 19
Orphanet:98132	Orphanet:262687	\N	"" []	Orphanet:262687	"" []	217811	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of chromosome 19
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262687	"" []	572686	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of chromosome 19
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262687	"" []	1155132	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of chromosome 19
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262687	"" []	2037904	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome 19
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262687	"" []	3188220	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome 19
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262687	"" []	4395301	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome 19
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262687	"" []	5413301	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome 19
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262687	"" []	6149873	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome 19
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262687	"" []	6632891	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome 19
Orphanet:262692	\N	\N	"" []	Orphanet:262692	"" []	75340	\N	\N	EFO	0	EFO	Partial trisomy of chromosome 20	Partial trisomy of chromosome 20
Orphanet:98132	Orphanet:262692	\N	"" []	Orphanet:262692	"" []	217812	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy of chromosome 20
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262692	"" []	572687	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial trisomy of chromosome 20
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262692	"" []	1155133	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial trisomy of chromosome 20
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262692	"" []	2037905	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial trisomy of chromosome 20
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262692	"" []	3188221	\N	\N	EFO	5	EFO	genetic disorder	Partial trisomy of chromosome 20
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262692	"" []	4395302	\N	\N	EFO	6	EFO	disease	Partial trisomy of chromosome 20
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262692	"" []	5413302	\N	\N	EFO	7	EFO	disposition	Partial trisomy of chromosome 20
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262692	"" []	6149874	\N	\N	EFO	8	EFO	material property	Partial trisomy of chromosome 20
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262692	"" []	6632892	\N	\N	EFO	9	EFO	experimental factor	Partial trisomy of chromosome 20
Orphanet:262698	\N	\N	"" []	Orphanet:262698	"" []	75341	\N	\N	EFO	0	EFO	Partial duplication of the short arm of chromosome 2	Partial duplication of the short arm of chromosome 2
Orphanet:262196	Orphanet:262698	\N	"" []	Orphanet:262698	"" []	217813	\N	\N	EFO	1	EFO	Partial duplication of chromosome 2	Partial duplication of the short arm of chromosome 2
Orphanet:98132	Orphanet:262196	\N	"" []	Orphanet:262698	"" []	572688	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the short arm of chromosome 2
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262698	"" []	1155134	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the short arm of chromosome 2
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262698	"" []	2037906	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the short arm of chromosome 2
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262698	"" []	3188222	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the short arm of chromosome 2
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262698	"" []	4395303	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the short arm of chromosome 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262698	"" []	5413303	\N	\N	EFO	7	EFO	disease	Partial duplication of the short arm of chromosome 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262698	"" []	6149875	\N	\N	EFO	8	EFO	disposition	Partial duplication of the short arm of chromosome 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262698	"" []	6632893	\N	\N	EFO	9	EFO	material property	Partial duplication of the short arm of chromosome 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262698	"" []	6925731	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the short arm of chromosome 2
Orphanet:262707	\N	\N	"" []	Orphanet:262707	"" []	75342	\N	\N	EFO	0	EFO	Partial duplication of the short arm of chromosome 3	Partial duplication of the short arm of chromosome 3
Orphanet:262201	Orphanet:262707	\N	"" []	Orphanet:262707	"" []	217814	\N	\N	EFO	1	EFO	Partial duplication of chromosome 3	Partial duplication of the short arm of chromosome 3
Orphanet:98132	Orphanet:262201	\N	"" []	Orphanet:262707	"" []	572689	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the short arm of chromosome 3
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262707	"" []	1155135	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the short arm of chromosome 3
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262707	"" []	2037907	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the short arm of chromosome 3
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262707	"" []	3188223	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the short arm of chromosome 3
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262707	"" []	4395304	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the short arm of chromosome 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262707	"" []	5413304	\N	\N	EFO	7	EFO	disease	Partial duplication of the short arm of chromosome 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262707	"" []	6149876	\N	\N	EFO	8	EFO	disposition	Partial duplication of the short arm of chromosome 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262707	"" []	6632894	\N	\N	EFO	9	EFO	material property	Partial duplication of the short arm of chromosome 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262707	"" []	6925732	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the short arm of chromosome 3
Orphanet:262716	\N	\N	"" []	Orphanet:262716	"" []	75343	\N	\N	EFO	0	EFO	Partial duplication of the short arm of chromosome 4	Partial duplication of the short arm of chromosome 4
Orphanet:262206	Orphanet:262716	\N	"" []	Orphanet:262716	"" []	217815	\N	\N	EFO	1	EFO	Partial duplication of chromosome 4	Partial duplication of the short arm of chromosome 4
Orphanet:98132	Orphanet:262206	\N	"" []	Orphanet:262716	"" []	572690	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the short arm of chromosome 4
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262716	"" []	1155136	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the short arm of chromosome 4
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262716	"" []	2037908	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the short arm of chromosome 4
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262716	"" []	3188224	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the short arm of chromosome 4
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262716	"" []	4395305	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the short arm of chromosome 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262716	"" []	5413305	\N	\N	EFO	7	EFO	disease	Partial duplication of the short arm of chromosome 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262716	"" []	6149877	\N	\N	EFO	8	EFO	disposition	Partial duplication of the short arm of chromosome 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262716	"" []	6632895	\N	\N	EFO	9	EFO	material property	Partial duplication of the short arm of chromosome 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262716	"" []	6925733	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the short arm of chromosome 4
Orphanet:262725	\N	\N	"" []	Orphanet:262725	"" []	75344	\N	\N	EFO	0	EFO	Partial trisomy/tetrasomy of the short arm of chromosome 5	Partial trisomy/tetrasomy of the short arm of chromosome 5
Orphanet:262211	Orphanet:262725	\N	"" []	Orphanet:262725	"" []	217816	\N	\N	EFO	1	EFO	Partial trisomy/tetrasomy of chromosome 5	Partial trisomy/tetrasomy of the short arm of chromosome 5
Orphanet:98132	Orphanet:262211	\N	"" []	Orphanet:262725	"" []	572691	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy/tetrasomy of the short arm of chromosome 5
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262725	"" []	1155137	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial trisomy/tetrasomy of the short arm of chromosome 5
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262725	"" []	2037909	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial trisomy/tetrasomy of the short arm of chromosome 5
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262725	"" []	3188225	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial trisomy/tetrasomy of the short arm of chromosome 5
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262725	"" []	4395306	\N	\N	EFO	6	EFO	genetic disorder	Partial trisomy/tetrasomy of the short arm of chromosome 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262725	"" []	5413306	\N	\N	EFO	7	EFO	disease	Partial trisomy/tetrasomy of the short arm of chromosome 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262725	"" []	6149878	\N	\N	EFO	8	EFO	disposition	Partial trisomy/tetrasomy of the short arm of chromosome 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262725	"" []	6632896	\N	\N	EFO	9	EFO	material property	Partial trisomy/tetrasomy of the short arm of chromosome 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262725	"" []	6925734	\N	\N	EFO	10	EFO	experimental factor	Partial trisomy/tetrasomy of the short arm of chromosome 5
Orphanet:262740	\N	\N	"" []	Orphanet:262740	"" []	75345	\N	\N	EFO	0	EFO	Partial duplication of the short arm of chromosome 6	Partial duplication of the short arm of chromosome 6
Orphanet:262628	Orphanet:262740	\N	"" []	Orphanet:262740	"" []	217817	\N	\N	EFO	1	EFO	Partial duplication of chromosome 6	Partial duplication of the short arm of chromosome 6
Orphanet:98132	Orphanet:262628	\N	"" []	Orphanet:262740	"" []	572692	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the short arm of chromosome 6
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262740	"" []	1155138	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the short arm of chromosome 6
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262740	"" []	2037910	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the short arm of chromosome 6
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262740	"" []	3188226	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the short arm of chromosome 6
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262740	"" []	4395307	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the short arm of chromosome 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262740	"" []	5413307	\N	\N	EFO	7	EFO	disease	Partial duplication of the short arm of chromosome 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262740	"" []	6149879	\N	\N	EFO	8	EFO	disposition	Partial duplication of the short arm of chromosome 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262740	"" []	6632897	\N	\N	EFO	9	EFO	material property	Partial duplication of the short arm of chromosome 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262740	"" []	6925735	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the short arm of chromosome 6
Orphanet:262749	\N	\N	"" []	Orphanet:262749	"" []	75346	\N	\N	EFO	0	EFO	Partial duplication of the short arm of chromosome 7	Partial duplication of the short arm of chromosome 7
Orphanet:262633	Orphanet:262749	\N	"" []	Orphanet:262749	"" []	217818	\N	\N	EFO	1	EFO	Partial duplication of chromosome 7	Partial duplication of the short arm of chromosome 7
Orphanet:98132	Orphanet:262633	\N	"" []	Orphanet:262749	"" []	572693	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the short arm of chromosome 7
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262749	"" []	1155139	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the short arm of chromosome 7
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262749	"" []	2037911	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the short arm of chromosome 7
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262749	"" []	3188227	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the short arm of chromosome 7
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262749	"" []	4395308	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the short arm of chromosome 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262749	"" []	5413308	\N	\N	EFO	7	EFO	disease	Partial duplication of the short arm of chromosome 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262749	"" []	6149880	\N	\N	EFO	8	EFO	disposition	Partial duplication of the short arm of chromosome 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262749	"" []	6632898	\N	\N	EFO	9	EFO	material property	Partial duplication of the short arm of chromosome 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262749	"" []	6925736	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the short arm of chromosome 7
Orphanet:262758	\N	\N	"" []	Orphanet:262758	"" []	75347	\N	\N	EFO	0	EFO	Partial duplication of the short arm of chromosome 8	Partial duplication of the short arm of chromosome 8
Orphanet:262638	Orphanet:262758	\N	"" []	Orphanet:262758	"" []	217819	\N	\N	EFO	1	EFO	Partial duplication of chromosome 8	Partial duplication of the short arm of chromosome 8
Orphanet:98132	Orphanet:262638	\N	"" []	Orphanet:262758	"" []	572694	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the short arm of chromosome 8
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262758	"" []	1155140	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the short arm of chromosome 8
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262758	"" []	2037912	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the short arm of chromosome 8
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262758	"" []	3188228	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the short arm of chromosome 8
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262758	"" []	4395309	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the short arm of chromosome 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262758	"" []	5413309	\N	\N	EFO	7	EFO	disease	Partial duplication of the short arm of chromosome 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262758	"" []	6149881	\N	\N	EFO	8	EFO	disposition	Partial duplication of the short arm of chromosome 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262758	"" []	6632899	\N	\N	EFO	9	EFO	material property	Partial duplication of the short arm of chromosome 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262758	"" []	6925737	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the short arm of chromosome 8
Orphanet:262767	\N	\N	"" []	Orphanet:262767	"" []	75348	\N	\N	EFO	0	EFO	Partial trisomy of the short arm of chromosome 9	Partial trisomy of the short arm of chromosome 9
Orphanet:262643	Orphanet:262767	\N	"" []	Orphanet:262767	"" []	217820	\N	\N	EFO	1	EFO	Partial trisomy/tetrasomy of chromosome 9	Partial trisomy of the short arm of chromosome 9
Orphanet:98132	Orphanet:262643	\N	"" []	Orphanet:262767	"" []	572695	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy of the short arm of chromosome 9
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262767	"" []	1155141	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial trisomy of the short arm of chromosome 9
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262767	"" []	2037913	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial trisomy of the short arm of chromosome 9
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262767	"" []	3188229	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial trisomy of the short arm of chromosome 9
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262767	"" []	4395310	\N	\N	EFO	6	EFO	genetic disorder	Partial trisomy of the short arm of chromosome 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262767	"" []	5413310	\N	\N	EFO	7	EFO	disease	Partial trisomy of the short arm of chromosome 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262767	"" []	6149882	\N	\N	EFO	8	EFO	disposition	Partial trisomy of the short arm of chromosome 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262767	"" []	6632900	\N	\N	EFO	9	EFO	material property	Partial trisomy of the short arm of chromosome 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262767	"" []	6925738	\N	\N	EFO	10	EFO	experimental factor	Partial trisomy of the short arm of chromosome 9
Orphanet:262776	\N	\N	"" []	Orphanet:262776	"" []	75349	\N	\N	EFO	0	EFO	Partial duplication of the short arm of chromosome 10	Partial duplication of the short arm of chromosome 10
Orphanet:262648	Orphanet:262776	\N	"" []	Orphanet:262776	"" []	217821	\N	\N	EFO	1	EFO	Partial duplication of chromosome 10	Partial duplication of the short arm of chromosome 10
Orphanet:98132	Orphanet:262648	\N	"" []	Orphanet:262776	"" []	572696	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the short arm of chromosome 10
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262776	"" []	1155142	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the short arm of chromosome 10
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262776	"" []	2037914	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the short arm of chromosome 10
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262776	"" []	3188230	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the short arm of chromosome 10
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262776	"" []	4395311	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the short arm of chromosome 10
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262776	"" []	5413311	\N	\N	EFO	7	EFO	disease	Partial duplication of the short arm of chromosome 10
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262776	"" []	6149883	\N	\N	EFO	8	EFO	disposition	Partial duplication of the short arm of chromosome 10
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262776	"" []	6632901	\N	\N	EFO	9	EFO	material property	Partial duplication of the short arm of chromosome 10
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262776	"" []	6925739	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the short arm of chromosome 10
Orphanet:262785	\N	\N	"" []	Orphanet:262785	"" []	75350	\N	\N	EFO	0	EFO	Partial duplication of the short arm of chromosome 11	Partial duplication of the short arm of chromosome 11
Orphanet:262653	Orphanet:262785	\N	"" []	Orphanet:262785	"" []	217822	\N	\N	EFO	1	EFO	Partial duplication of chromosome 11	Partial duplication of the short arm of chromosome 11
Orphanet:98132	Orphanet:262653	\N	"" []	Orphanet:262785	"" []	572697	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the short arm of chromosome 11
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262785	"" []	1155143	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the short arm of chromosome 11
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262785	"" []	2037915	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the short arm of chromosome 11
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262785	"" []	3188231	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the short arm of chromosome 11
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262785	"" []	4395312	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the short arm of chromosome 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262785	"" []	5413312	\N	\N	EFO	7	EFO	disease	Partial duplication of the short arm of chromosome 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262785	"" []	6149884	\N	\N	EFO	8	EFO	disposition	Partial duplication of the short arm of chromosome 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262785	"" []	6632902	\N	\N	EFO	9	EFO	material property	Partial duplication of the short arm of chromosome 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262785	"" []	6925740	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the short arm of chromosome 11
Orphanet:262794	\N	\N	"" []	Orphanet:262794	"" []	75351	\N	\N	EFO	0	EFO	Partial duplication of the short arm of chromosome 16	Partial duplication of the short arm of chromosome 16
Orphanet:262672	Orphanet:262794	\N	"" []	Orphanet:262794	"" []	217823	\N	\N	EFO	1	EFO	Partial duplication of chromosome 16	Partial duplication of the short arm of chromosome 16
Orphanet:98132	Orphanet:262672	\N	"" []	Orphanet:262794	"" []	572698	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the short arm of chromosome 16
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262794	"" []	1155144	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the short arm of chromosome 16
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262794	"" []	2037916	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the short arm of chromosome 16
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262794	"" []	3188232	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the short arm of chromosome 16
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262794	"" []	4395313	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the short arm of chromosome 16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262794	"" []	5413313	\N	\N	EFO	7	EFO	disease	Partial duplication of the short arm of chromosome 16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262794	"" []	6149885	\N	\N	EFO	8	EFO	disposition	Partial duplication of the short arm of chromosome 16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262794	"" []	6632903	\N	\N	EFO	9	EFO	material property	Partial duplication of the short arm of chromosome 16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262794	"" []	6925741	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the short arm of chromosome 16
Orphanet:262803	\N	\N	"" []	Orphanet:262803	"" []	75352	\N	\N	EFO	0	EFO	Partial duplication of the short arm of chromosome 17	Partial duplication of the short arm of chromosome 17
Orphanet:262677	Orphanet:262803	\N	"" []	Orphanet:262803	"" []	217824	\N	\N	EFO	1	EFO	Partial duplication of chromosome 17	Partial duplication of the short arm of chromosome 17
Orphanet:98132	Orphanet:262677	\N	"" []	Orphanet:262803	"" []	572699	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the short arm of chromosome 17
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262803	"" []	1155145	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the short arm of chromosome 17
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262803	"" []	2037917	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the short arm of chromosome 17
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262803	"" []	3188233	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the short arm of chromosome 17
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262803	"" []	4395314	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the short arm of chromosome 17
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262803	"" []	5413314	\N	\N	EFO	7	EFO	disease	Partial duplication of the short arm of chromosome 17
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262803	"" []	6149886	\N	\N	EFO	8	EFO	disposition	Partial duplication of the short arm of chromosome 17
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262803	"" []	6632904	\N	\N	EFO	9	EFO	material property	Partial duplication of the short arm of chromosome 17
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262803	"" []	6925742	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the short arm of chromosome 17
Orphanet:262812	\N	\N	"" []	Orphanet:262812	"" []	75353	\N	\N	EFO	0	EFO	Partial trisomy/tetrasomy of the short arm of chromosome 18	Partial trisomy/tetrasomy of the short arm of chromosome 18
Orphanet:262682	Orphanet:262812	\N	"" []	Orphanet:262812	"" []	217825	\N	\N	EFO	1	EFO	Partial trisomy/tetrasomy of chromosome 18	Partial trisomy/tetrasomy of the short arm of chromosome 18
Orphanet:98132	Orphanet:262682	\N	"" []	Orphanet:262812	"" []	572700	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy/tetrasomy of the short arm of chromosome 18
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262812	"" []	1155146	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial trisomy/tetrasomy of the short arm of chromosome 18
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262812	"" []	2037918	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial trisomy/tetrasomy of the short arm of chromosome 18
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262812	"" []	3188234	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial trisomy/tetrasomy of the short arm of chromosome 18
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262812	"" []	4395315	\N	\N	EFO	6	EFO	genetic disorder	Partial trisomy/tetrasomy of the short arm of chromosome 18
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262812	"" []	5413315	\N	\N	EFO	7	EFO	disease	Partial trisomy/tetrasomy of the short arm of chromosome 18
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262812	"" []	6149887	\N	\N	EFO	8	EFO	disposition	Partial trisomy/tetrasomy of the short arm of chromosome 18
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262812	"" []	6632905	\N	\N	EFO	9	EFO	material property	Partial trisomy/tetrasomy of the short arm of chromosome 18
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262812	"" []	6925743	\N	\N	EFO	10	EFO	experimental factor	Partial trisomy/tetrasomy of the short arm of chromosome 18
Orphanet:262833	\N	\N	"" []	Orphanet:262833	"" []	75354	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 1	Partial duplication of the long arm of chromosome 1
Orphanet:262191	Orphanet:262833	\N	"" []	Orphanet:262833	"" []	217826	\N	\N	EFO	1	EFO	Partial duplication of chromosome 1	Partial duplication of the long arm of chromosome 1
Orphanet:98132	Orphanet:262191	\N	"" []	Orphanet:262833	"" []	572701	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 1
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262833	"" []	1155147	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 1
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262833	"" []	2037919	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262833	"" []	3188235	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262833	"" []	4395316	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the long arm of chromosome 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262833	"" []	5413316	\N	\N	EFO	7	EFO	disease	Partial duplication of the long arm of chromosome 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262833	"" []	6149888	\N	\N	EFO	8	EFO	disposition	Partial duplication of the long arm of chromosome 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262833	"" []	6632906	\N	\N	EFO	9	EFO	material property	Partial duplication of the long arm of chromosome 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262833	"" []	6925744	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the long arm of chromosome 1
Orphanet:262842	\N	\N	"" []	Orphanet:262842	"" []	75355	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 2	Partial duplication of the long arm of chromosome 2
Orphanet:262196	Orphanet:262842	\N	"" []	Orphanet:262842	"" []	217827	\N	\N	EFO	1	EFO	Partial duplication of chromosome 2	Partial duplication of the long arm of chromosome 2
Orphanet:98132	Orphanet:262196	\N	"" []	Orphanet:262842	"" []	572702	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 2
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262842	"" []	1155148	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 2
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262842	"" []	2037920	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 2
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262842	"" []	3188236	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 2
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262842	"" []	4395317	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the long arm of chromosome 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262842	"" []	5413317	\N	\N	EFO	7	EFO	disease	Partial duplication of the long arm of chromosome 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262842	"" []	6149889	\N	\N	EFO	8	EFO	disposition	Partial duplication of the long arm of chromosome 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262842	"" []	6632907	\N	\N	EFO	9	EFO	material property	Partial duplication of the long arm of chromosome 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262842	"" []	6925745	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the long arm of chromosome 2
Orphanet:262851	\N	\N	"" []	Orphanet:262851	"" []	75356	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 3	Partial duplication of the long arm of chromosome 3
Orphanet:262201	Orphanet:262851	\N	"" []	Orphanet:262851	"" []	217828	\N	\N	EFO	1	EFO	Partial duplication of chromosome 3	Partial duplication of the long arm of chromosome 3
Orphanet:98132	Orphanet:262201	\N	"" []	Orphanet:262851	"" []	572703	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 3
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262851	"" []	1155149	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 3
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262851	"" []	2037921	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 3
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262851	"" []	3188237	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 3
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262851	"" []	4395318	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the long arm of chromosome 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262851	"" []	5413318	\N	\N	EFO	7	EFO	disease	Partial duplication of the long arm of chromosome 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262851	"" []	6149890	\N	\N	EFO	8	EFO	disposition	Partial duplication of the long arm of chromosome 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262851	"" []	6632908	\N	\N	EFO	9	EFO	material property	Partial duplication of the long arm of chromosome 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262851	"" []	6925746	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the long arm of chromosome 3
Orphanet:262860	\N	\N	"" []	Orphanet:262860	"" []	75357	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 4	Partial duplication of the long arm of chromosome 4
Orphanet:262206	Orphanet:262860	\N	"" []	Orphanet:262860	"" []	217829	\N	\N	EFO	1	EFO	Partial duplication of chromosome 4	Partial duplication of the long arm of chromosome 4
Orphanet:98132	Orphanet:262206	\N	"" []	Orphanet:262860	"" []	572704	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 4
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262860	"" []	1155150	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 4
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262860	"" []	2037922	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 4
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262860	"" []	3188238	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 4
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262860	"" []	4395319	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the long arm of chromosome 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262860	"" []	5413319	\N	\N	EFO	7	EFO	disease	Partial duplication of the long arm of chromosome 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262860	"" []	6149891	\N	\N	EFO	8	EFO	disposition	Partial duplication of the long arm of chromosome 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262860	"" []	6632909	\N	\N	EFO	9	EFO	material property	Partial duplication of the long arm of chromosome 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262860	"" []	6925747	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the long arm of chromosome 4
Orphanet:262869	\N	\N	"" []	Orphanet:262869	"" []	75358	\N	\N	EFO	0	EFO	Partial trisomy of the long arm of chromosome 5	Partial trisomy of the long arm of chromosome 5
Orphanet:262211	Orphanet:262869	\N	"" []	Orphanet:262869	"" []	217830	\N	\N	EFO	1	EFO	Partial trisomy/tetrasomy of chromosome 5	Partial trisomy of the long arm of chromosome 5
Orphanet:98132	Orphanet:262211	\N	"" []	Orphanet:262869	"" []	572705	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy of the long arm of chromosome 5
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262869	"" []	1155151	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial trisomy of the long arm of chromosome 5
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262869	"" []	2037923	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial trisomy of the long arm of chromosome 5
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262869	"" []	3188239	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial trisomy of the long arm of chromosome 5
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262869	"" []	4395320	\N	\N	EFO	6	EFO	genetic disorder	Partial trisomy of the long arm of chromosome 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262869	"" []	5413320	\N	\N	EFO	7	EFO	disease	Partial trisomy of the long arm of chromosome 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262869	"" []	6149892	\N	\N	EFO	8	EFO	disposition	Partial trisomy of the long arm of chromosome 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262869	"" []	6632910	\N	\N	EFO	9	EFO	material property	Partial trisomy of the long arm of chromosome 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262869	"" []	6925748	\N	\N	EFO	10	EFO	experimental factor	Partial trisomy of the long arm of chromosome 5
Orphanet:262878	\N	\N	"" []	Orphanet:262878	"" []	75359	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 6	Partial duplication of the long arm of chromosome 6
Orphanet:262628	Orphanet:262878	\N	"" []	Orphanet:262878	"" []	217831	\N	\N	EFO	1	EFO	Partial duplication of chromosome 6	Partial duplication of the long arm of chromosome 6
Orphanet:98132	Orphanet:262628	\N	"" []	Orphanet:262878	"" []	572706	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 6
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262878	"" []	1155152	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 6
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262878	"" []	2037924	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 6
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262878	"" []	3188240	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 6
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262878	"" []	4395321	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the long arm of chromosome 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262878	"" []	5413321	\N	\N	EFO	7	EFO	disease	Partial duplication of the long arm of chromosome 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262878	"" []	6149893	\N	\N	EFO	8	EFO	disposition	Partial duplication of the long arm of chromosome 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262878	"" []	6632911	\N	\N	EFO	9	EFO	material property	Partial duplication of the long arm of chromosome 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262878	"" []	6925749	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the long arm of chromosome 6
Orphanet:262887	\N	\N	"" []	Orphanet:262887	"" []	75360	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 7	Partial duplication of the long arm of chromosome 7
Orphanet:262633	Orphanet:262887	\N	"" []	Orphanet:262887	"" []	217832	\N	\N	EFO	1	EFO	Partial duplication of chromosome 7	Partial duplication of the long arm of chromosome 7
Orphanet:98132	Orphanet:262633	\N	"" []	Orphanet:262887	"" []	572707	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 7
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262887	"" []	1155153	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 7
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262887	"" []	2037925	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 7
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262887	"" []	3188241	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 7
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262887	"" []	4395322	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the long arm of chromosome 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262887	"" []	5413322	\N	\N	EFO	7	EFO	disease	Partial duplication of the long arm of chromosome 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262887	"" []	6149894	\N	\N	EFO	8	EFO	disposition	Partial duplication of the long arm of chromosome 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262887	"" []	6632912	\N	\N	EFO	9	EFO	material property	Partial duplication of the long arm of chromosome 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262887	"" []	6925750	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the long arm of chromosome 7
Orphanet:262896	\N	\N	"" []	Orphanet:262896	"" []	75361	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 8	Partial duplication of the long arm of chromosome 8
Orphanet:262638	Orphanet:262896	\N	"" []	Orphanet:262896	"" []	217833	\N	\N	EFO	1	EFO	Partial duplication of chromosome 8	Partial duplication of the long arm of chromosome 8
Orphanet:98132	Orphanet:262638	\N	"" []	Orphanet:262896	"" []	572708	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 8
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262896	"" []	1155154	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 8
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262896	"" []	2037926	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 8
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262896	"" []	3188242	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 8
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262896	"" []	4395323	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the long arm of chromosome 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262896	"" []	5413323	\N	\N	EFO	7	EFO	disease	Partial duplication of the long arm of chromosome 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262896	"" []	6149895	\N	\N	EFO	8	EFO	disposition	Partial duplication of the long arm of chromosome 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262896	"" []	6632913	\N	\N	EFO	9	EFO	material property	Partial duplication of the long arm of chromosome 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262896	"" []	6925751	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the long arm of chromosome 8
Orphanet:262905	\N	\N	"" []	Orphanet:262905	"" []	75362	\N	\N	EFO	0	EFO	Partial trisomy of the long arm of chromosome 9	Partial trisomy of the long arm of chromosome 9
Orphanet:262643	Orphanet:262905	\N	"" []	Orphanet:262905	"" []	217834	\N	\N	EFO	1	EFO	Partial trisomy/tetrasomy of chromosome 9	Partial trisomy of the long arm of chromosome 9
Orphanet:98132	Orphanet:262643	\N	"" []	Orphanet:262905	"" []	572709	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy of the long arm of chromosome 9
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262905	"" []	1155155	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial trisomy of the long arm of chromosome 9
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262905	"" []	2037927	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial trisomy of the long arm of chromosome 9
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262905	"" []	3188243	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial trisomy of the long arm of chromosome 9
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262905	"" []	4395324	\N	\N	EFO	6	EFO	genetic disorder	Partial trisomy of the long arm of chromosome 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262905	"" []	5413324	\N	\N	EFO	7	EFO	disease	Partial trisomy of the long arm of chromosome 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262905	"" []	6149896	\N	\N	EFO	8	EFO	disposition	Partial trisomy of the long arm of chromosome 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262905	"" []	6632914	\N	\N	EFO	9	EFO	material property	Partial trisomy of the long arm of chromosome 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262905	"" []	6925752	\N	\N	EFO	10	EFO	experimental factor	Partial trisomy of the long arm of chromosome 9
Orphanet:262914	\N	\N	"" []	Orphanet:262914	"" []	75363	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 10	Partial duplication of the long arm of chromosome 10
Orphanet:262648	Orphanet:262914	\N	"" []	Orphanet:262914	"" []	217835	\N	\N	EFO	1	EFO	Partial duplication of chromosome 10	Partial duplication of the long arm of chromosome 10
Orphanet:98132	Orphanet:262648	\N	"" []	Orphanet:262914	"" []	572710	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 10
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262914	"" []	1155156	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 10
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262914	"" []	2037928	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 10
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262914	"" []	3188244	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 10
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262914	"" []	4395325	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the long arm of chromosome 10
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262914	"" []	5413325	\N	\N	EFO	7	EFO	disease	Partial duplication of the long arm of chromosome 10
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262914	"" []	6149897	\N	\N	EFO	8	EFO	disposition	Partial duplication of the long arm of chromosome 10
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262914	"" []	6632915	\N	\N	EFO	9	EFO	material property	Partial duplication of the long arm of chromosome 10
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262914	"" []	6925753	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the long arm of chromosome 10
Orphanet:262923	\N	\N	"" []	Orphanet:262923	"" []	75364	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 11	Partial duplication of the long arm of chromosome 11
Orphanet:262653	Orphanet:262923	\N	"" []	Orphanet:262923	"" []	217836	\N	\N	EFO	1	EFO	Partial duplication of chromosome 11	Partial duplication of the long arm of chromosome 11
Orphanet:98132	Orphanet:262653	\N	"" []	Orphanet:262923	"" []	572711	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 11
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262923	"" []	1155157	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 11
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262923	"" []	2037929	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 11
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262923	"" []	3188245	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 11
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262923	"" []	4395326	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the long arm of chromosome 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262923	"" []	5413326	\N	\N	EFO	7	EFO	disease	Partial duplication of the long arm of chromosome 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262923	"" []	6149898	\N	\N	EFO	8	EFO	disposition	Partial duplication of the long arm of chromosome 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262923	"" []	6632916	\N	\N	EFO	9	EFO	material property	Partial duplication of the long arm of chromosome 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262923	"" []	6925754	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the long arm of chromosome 11
Orphanet:262932	\N	\N	"" []	Orphanet:262932	"" []	75365	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 13	Partial duplication of the long arm of chromosome 13
Orphanet:98132	Orphanet:262932	\N	"" []	Orphanet:262932	"" []	217837	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 13
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262932	"" []	572712	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 13
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262932	"" []	1155158	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 13
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262932	"" []	2037930	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 13
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262932	"" []	3188246	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of the long arm of chromosome 13
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262932	"" []	4395327	\N	\N	EFO	6	EFO	disease	Partial duplication of the long arm of chromosome 13
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262932	"" []	5413327	\N	\N	EFO	7	EFO	disposition	Partial duplication of the long arm of chromosome 13
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262932	"" []	6149899	\N	\N	EFO	8	EFO	material property	Partial duplication of the long arm of chromosome 13
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262932	"" []	6632917	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of the long arm of chromosome 13
Orphanet:262941	\N	\N	"" []	Orphanet:262941	"" []	75366	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 14	Partial duplication of the long arm of chromosome 14
Orphanet:98132	Orphanet:262941	\N	"" []	Orphanet:262941	"" []	217838	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 14
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262941	"" []	572713	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 14
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262941	"" []	1155159	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 14
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262941	"" []	2037931	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 14
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262941	"" []	3188247	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of the long arm of chromosome 14
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262941	"" []	4395328	\N	\N	EFO	6	EFO	disease	Partial duplication of the long arm of chromosome 14
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262941	"" []	5413328	\N	\N	EFO	7	EFO	disposition	Partial duplication of the long arm of chromosome 14
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262941	"" []	6149900	\N	\N	EFO	8	EFO	material property	Partial duplication of the long arm of chromosome 14
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262941	"" []	6632918	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of the long arm of chromosome 14
Orphanet:262950	\N	\N	"" []	Orphanet:262950	"" []	75367	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 15	Partial duplication of the long arm of chromosome 15
Orphanet:98132	Orphanet:262950	\N	"" []	Orphanet:262950	"" []	217839	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 15
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262950	"" []	572714	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 15
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262950	"" []	1155160	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 15
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262950	"" []	2037932	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 15
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262950	"" []	3188248	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of the long arm of chromosome 15
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262950	"" []	4395329	\N	\N	EFO	6	EFO	disease	Partial duplication of the long arm of chromosome 15
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262950	"" []	5413329	\N	\N	EFO	7	EFO	disposition	Partial duplication of the long arm of chromosome 15
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262950	"" []	6149901	\N	\N	EFO	8	EFO	material property	Partial duplication of the long arm of chromosome 15
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262950	"" []	6632919	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of the long arm of chromosome 15
Orphanet:262959	\N	\N	"" []	Orphanet:262959	"" []	75368	\N	\N	EFO	0	EFO	Partial trisomy of the long arm of chromosome 16	Partial trisomy of the long arm of chromosome 16
Orphanet:262672	Orphanet:262959	\N	"" []	Orphanet:262959	"" []	217840	\N	\N	EFO	1	EFO	Partial duplication of chromosome 16	Partial trisomy of the long arm of chromosome 16
Orphanet:98132	Orphanet:262672	\N	"" []	Orphanet:262959	"" []	572715	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy of the long arm of chromosome 16
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262959	"" []	1155161	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial trisomy of the long arm of chromosome 16
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262959	"" []	2037933	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial trisomy of the long arm of chromosome 16
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262959	"" []	3188249	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial trisomy of the long arm of chromosome 16
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262959	"" []	4395330	\N	\N	EFO	6	EFO	genetic disorder	Partial trisomy of the long arm of chromosome 16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262959	"" []	5413330	\N	\N	EFO	7	EFO	disease	Partial trisomy of the long arm of chromosome 16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262959	"" []	6149902	\N	\N	EFO	8	EFO	disposition	Partial trisomy of the long arm of chromosome 16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262959	"" []	6632920	\N	\N	EFO	9	EFO	material property	Partial trisomy of the long arm of chromosome 16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262959	"" []	6925755	\N	\N	EFO	10	EFO	experimental factor	Partial trisomy of the long arm of chromosome 16
Orphanet:262968	\N	\N	"" []	Orphanet:262968	"" []	75369	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 17	Partial duplication of the long arm of chromosome 17
Orphanet:262677	Orphanet:262968	\N	"" []	Orphanet:262968	"" []	217841	\N	\N	EFO	1	EFO	Partial duplication of chromosome 17	Partial duplication of the long arm of chromosome 17
Orphanet:98132	Orphanet:262677	\N	"" []	Orphanet:262968	"" []	572716	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 17
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262968	"" []	1155162	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 17
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262968	"" []	2037934	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 17
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262968	"" []	3188250	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 17
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262968	"" []	4395331	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the long arm of chromosome 17
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262968	"" []	5413331	\N	\N	EFO	7	EFO	disease	Partial duplication of the long arm of chromosome 17
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262968	"" []	6149903	\N	\N	EFO	8	EFO	disposition	Partial duplication of the long arm of chromosome 17
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262968	"" []	6632921	\N	\N	EFO	9	EFO	material property	Partial duplication of the long arm of chromosome 17
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262968	"" []	6925756	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the long arm of chromosome 17
Orphanet:262977	\N	\N	"" []	Orphanet:262977	"" []	75370	\N	\N	EFO	0	EFO	Partial trisomy of the long arm of chromosome 18	Partial trisomy of the long arm of chromosome 18
Orphanet:262682	Orphanet:262977	\N	"" []	Orphanet:262977	"" []	217842	\N	\N	EFO	1	EFO	Partial trisomy/tetrasomy of chromosome 18	Partial trisomy of the long arm of chromosome 18
Orphanet:98132	Orphanet:262682	\N	"" []	Orphanet:262977	"" []	572717	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy of the long arm of chromosome 18
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262977	"" []	1155163	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial trisomy of the long arm of chromosome 18
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262977	"" []	2037935	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial trisomy of the long arm of chromosome 18
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262977	"" []	3188251	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial trisomy of the long arm of chromosome 18
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262977	"" []	4395332	\N	\N	EFO	6	EFO	genetic disorder	Partial trisomy of the long arm of chromosome 18
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262977	"" []	5413332	\N	\N	EFO	7	EFO	disease	Partial trisomy of the long arm of chromosome 18
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262977	"" []	6149904	\N	\N	EFO	8	EFO	disposition	Partial trisomy of the long arm of chromosome 18
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262977	"" []	6632922	\N	\N	EFO	9	EFO	material property	Partial trisomy of the long arm of chromosome 18
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262977	"" []	6925757	\N	\N	EFO	10	EFO	experimental factor	Partial trisomy of the long arm of chromosome 18
Orphanet:262986	\N	\N	"" []	Orphanet:262986	"" []	75371	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 19	Partial duplication of the long arm of chromosome 19
Orphanet:262687	Orphanet:262986	\N	"" []	Orphanet:262986	"" []	217843	\N	\N	EFO	1	EFO	Partial duplication of chromosome 19	Partial duplication of the long arm of chromosome 19
Orphanet:98132	Orphanet:262687	\N	"" []	Orphanet:262986	"" []	572718	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 19
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262986	"" []	1155164	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 19
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262986	"" []	2037936	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 19
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262986	"" []	3188252	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 19
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262986	"" []	4395333	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the long arm of chromosome 19
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262986	"" []	5413333	\N	\N	EFO	7	EFO	disease	Partial duplication of the long arm of chromosome 19
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262986	"" []	6149905	\N	\N	EFO	8	EFO	disposition	Partial duplication of the long arm of chromosome 19
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262986	"" []	6632923	\N	\N	EFO	9	EFO	material property	Partial duplication of the long arm of chromosome 19
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262986	"" []	6925758	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the long arm of chromosome 19
Orphanet:262995	\N	\N	"" []	Orphanet:262995	"" []	75372	\N	\N	EFO	0	EFO	Partial trisomy of the long arm of chromosome 20	Partial trisomy of the long arm of chromosome 20
Orphanet:262692	Orphanet:262995	\N	"" []	Orphanet:262995	"" []	217844	\N	\N	EFO	1	EFO	Partial trisomy of chromosome 20	Partial trisomy of the long arm of chromosome 20
Orphanet:98132	Orphanet:262692	\N	"" []	Orphanet:262995	"" []	572719	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial trisomy of the long arm of chromosome 20
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:262995	"" []	1155165	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial trisomy of the long arm of chromosome 20
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:262995	"" []	2037937	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial trisomy of the long arm of chromosome 20
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:262995	"" []	3188253	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial trisomy of the long arm of chromosome 20
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:262995	"" []	4395334	\N	\N	EFO	6	EFO	genetic disorder	Partial trisomy of the long arm of chromosome 20
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:262995	"" []	5413334	\N	\N	EFO	7	EFO	disease	Partial trisomy of the long arm of chromosome 20
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:262995	"" []	6149906	\N	\N	EFO	8	EFO	disposition	Partial trisomy of the long arm of chromosome 20
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:262995	"" []	6632924	\N	\N	EFO	9	EFO	material property	Partial trisomy of the long arm of chromosome 20
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:262995	"" []	6925759	\N	\N	EFO	10	EFO	experimental factor	Partial trisomy of the long arm of chromosome 20
Orphanet:263	\N	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	75373	\N	\N	EFO	0	EFO	Limb-girdle muscular dystrophy	Limb-girdle muscular dystrophy
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	217845	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	Limb-girdle muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	572720	\N	\N	EFO	2	EFO	Muscular dystrophy	Limb-girdle muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	1155166	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Limb-girdle muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	2037938	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Limb-girdle muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	3188254	\N	\N	EFO	5	EFO	muscular disease	Limb-girdle muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	3188255	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Limb-girdle muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	4395335	\N	\N	EFO	6	EFO	skeletal system disease	Limb-girdle muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	4395336	\N	\N	EFO	6	EFO	genetic disorder	Limb-girdle muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	5413335	\N	\N	EFO	7	EFO	disease	Limb-girdle muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	5413336	\N	\N	EFO	7	EFO	disease	Limb-girdle muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	6149907	\N	\N	EFO	8	EFO	disposition	Limb-girdle muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	6632925	\N	\N	EFO	9	EFO	material property	Limb-girdle muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	6925760	\N	\N	EFO	10	EFO	experimental factor	Limb-girdle muscular dystrophy
Orphanet:263004	\N	\N	"" []	Orphanet:263004	"" []	75374	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome 22	Partial duplication of the long arm of chromosome 22
Orphanet:98132	Orphanet:263004	\N	"" []	Orphanet:263004	"" []	217846	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the long arm of chromosome 22
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:263004	"" []	572721	\N	\N	EFO	2	EFO	Autosomal trisomy	Partial duplication of the long arm of chromosome 22
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:263004	"" []	1155167	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial duplication of the long arm of chromosome 22
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:263004	"" []	2037939	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome 22
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263004	"" []	3188256	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of the long arm of chromosome 22
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263004	"" []	4395337	\N	\N	EFO	6	EFO	disease	Partial duplication of the long arm of chromosome 22
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263004	"" []	5413337	\N	\N	EFO	7	EFO	disposition	Partial duplication of the long arm of chromosome 22
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263004	"" []	6149908	\N	\N	EFO	8	EFO	material property	Partial duplication of the long arm of chromosome 22
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263004	"" []	6632926	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of the long arm of chromosome 22
Orphanet:2631	\N	\N	"" []	Orphanet:2631	"" []	75375	\N	\N	EFO	0	EFO	Mesomelic dwarfism - cleft palate - camptodactyly	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:139039	Orphanet:2631	\N	"" []	Orphanet:2631	"" []	217847	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:330206	Orphanet:2631	\N	"" []	Orphanet:2631	"" []	217848	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:93438	Orphanet:2631	\N	"" []	Orphanet:2631	"" []	217849	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2631	"" []	572722	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2631	"" []	572723	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:2631	"" []	572724	\N	\N	EFO	2	EFO	Primary bone dysplasia	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2631	"" []	1155168	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2631	"" []	1155169	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2631	"" []	1155170	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2631	"" []	1155171	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2631	"" []	2037940	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Mesomelic dwarfism - cleft palate - camptodactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2631	"" []	4395338	\N	\N	EFO	6	EFO	genetic disorder	Mesomelic dwarfism - cleft palate - camptodactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2631	"" []	2037942	\N	\N	EFO	4	EFO	genetic disorder	Mesomelic dwarfism - cleft palate - camptodactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2631	"" []	2037943	\N	\N	EFO	4	EFO	bone disease	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2631	"" []	2037944	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2631	"" []	3188257	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mesomelic dwarfism - cleft palate - camptodactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2631	"" []	5059854	\N	\N	EFO	7	EFO	disease	Mesomelic dwarfism - cleft palate - camptodactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2631	"" []	3188259	\N	\N	EFO	5	EFO	skeletal system disease	Mesomelic dwarfism - cleft palate - camptodactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2631	"" []	5877133	\N	\N	EFO	8	EFO	disposition	Mesomelic dwarfism - cleft palate - camptodactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2631	"" []	4395340	\N	\N	EFO	6	EFO	disease	Mesomelic dwarfism - cleft palate - camptodactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2631	"" []	6470354	\N	\N	EFO	9	EFO	material property	Mesomelic dwarfism - cleft palate - camptodactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2631	"" []	6848483	\N	\N	EFO	10	EFO	experimental factor	Mesomelic dwarfism - cleft palate - camptodactyly
Orphanet:2632	\N	\N	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	75376	\N	\N	EFO	0	EFO	Langer mesomelic dysplasia	Langer mesomelic dysplasia
Orphanet:93438	Orphanet:2632	\N	"" []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	217850	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Langer mesomelic dysplasia
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	572725	\N	\N	EFO	2	EFO	Primary bone dysplasia	Langer mesomelic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	1155172	\N	\N	EFO	3	EFO	Rare genetic bone disease	Langer mesomelic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	1155173	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Langer mesomelic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	2037945	\N	\N	EFO	4	EFO	genetic disorder	Langer mesomelic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	2037946	\N	\N	EFO	4	EFO	bone disease	Langer mesomelic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	2037947	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Langer mesomelic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	4395343	\N	\N	EFO	6	EFO	disease	Langer mesomelic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	3188262	\N	\N	EFO	5	EFO	skeletal system disease	Langer mesomelic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	3188263	\N	\N	EFO	5	EFO	genetic disorder	Langer mesomelic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	5182254	\N	\N	EFO	7	EFO	disposition	Langer mesomelic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	4395342	\N	\N	EFO	6	EFO	disease	Langer mesomelic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	5997612	\N	\N	EFO	8	EFO	material property	Langer mesomelic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2632	"Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." []	6550961	\N	\N	EFO	9	EFO	experimental factor	Langer mesomelic dysplasia
Orphanet:263297	\N	\N	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	75377	\N	\N	EFO	0	EFO	Glycogen storage disease due to glycogenin deficiency	Glycogen storage disease due to glycogenin deficiency
Orphanet:206959	Orphanet:263297	\N	"" []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	217851	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to glycogenin deficiency
Orphanet:79201	Orphanet:263297	\N	"" []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	217852	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to glycogenin deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	572726	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to glycogenin deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	572727	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glycogenin deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	1155174	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to glycogenin deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	1155175	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to glycogenin deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	2037948	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to glycogenin deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	2037949	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogenin deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	2037950	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to glycogenin deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	3188264	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to glycogenin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	6149912	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to glycogenin deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	3188266	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogenin deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	4395344	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to glycogenin deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	4395345	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to glycogenin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	6410030	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to glycogenin deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	5413340	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to glycogenin deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	5413341	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to glycogenin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	6807875	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to glycogenin deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	6149911	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to glycogenin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263297	"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." []	7048640	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to glycogenin deficiency
Orphanet:2633	\N	\N	"" []	Orphanet:2633	"" []	75378	\N	\N	EFO	0	EFO	Mesomelic dwarfism, Nievergelt type	Mesomelic dwarfism, Nievergelt type
Orphanet:93438	Orphanet:2633	\N	"" []	Orphanet:2633	"" []	217853	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Mesomelic dwarfism, Nievergelt type
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:2633	"" []	572728	\N	\N	EFO	2	EFO	Primary bone dysplasia	Mesomelic dwarfism, Nievergelt type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2633	"" []	1155176	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mesomelic dwarfism, Nievergelt type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2633	"" []	1155177	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Mesomelic dwarfism, Nievergelt type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2633	"" []	2037951	\N	\N	EFO	4	EFO	genetic disorder	Mesomelic dwarfism, Nievergelt type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2633	"" []	2037952	\N	\N	EFO	4	EFO	bone disease	Mesomelic dwarfism, Nievergelt type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2633	"" []	2037953	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mesomelic dwarfism, Nievergelt type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2633	"" []	4395349	\N	\N	EFO	6	EFO	disease	Mesomelic dwarfism, Nievergelt type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2633	"" []	3188268	\N	\N	EFO	5	EFO	skeletal system disease	Mesomelic dwarfism, Nievergelt type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2633	"" []	3188269	\N	\N	EFO	5	EFO	genetic disorder	Mesomelic dwarfism, Nievergelt type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2633	"" []	5182255	\N	\N	EFO	7	EFO	disposition	Mesomelic dwarfism, Nievergelt type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2633	"" []	4395348	\N	\N	EFO	6	EFO	disease	Mesomelic dwarfism, Nievergelt type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2633	"" []	5997613	\N	\N	EFO	8	EFO	material property	Mesomelic dwarfism, Nievergelt type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2633	"" []	6550962	\N	\N	EFO	9	EFO	experimental factor	Mesomelic dwarfism, Nievergelt type
Orphanet:263347	\N	\N	"" []	Orphanet:263347	"" []	75379	\N	\N	EFO	0	EFO	MRCS syndrome	MRCS syndrome
Orphanet:71862	Orphanet:263347	\N	"" []	Orphanet:263347	"" []	217854	\N	\N	EFO	1	EFO	Retinal dystrophy	MRCS syndrome
Orphanet:98641	Orphanet:263347	\N	"" []	Orphanet:263347	"" []	217855	\N	\N	EFO	1	EFO	Syndromic cataract	MRCS syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:263347	"" []	572729	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	MRCS syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:263347	"" []	572730	\N	\N	EFO	2	EFO	Rare cataract	MRCS syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:263347	"" []	1155178	\N	\N	EFO	3	EFO	Rare genetic eye disease	MRCS syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:263347	"" []	1155179	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	MRCS syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263347	"" []	3188272	\N	\N	EFO	5	EFO	genetic disorder	MRCS syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:263347	"" []	3188273	\N	\N	EFO	5	EFO	eye disease	MRCS syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:263347	"" []	2037956	\N	\N	EFO	4	EFO	Rare genetic eye disease	MRCS syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263347	"" []	4133708	\N	\N	EFO	6	EFO	disease	MRCS syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263347	"" []	4133709	\N	\N	EFO	6	EFO	disease	MRCS syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263347	"" []	5182256	\N	\N	EFO	7	EFO	disposition	MRCS syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263347	"" []	5997614	\N	\N	EFO	8	EFO	material property	MRCS syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263347	"" []	6550963	\N	\N	EFO	9	EFO	experimental factor	MRCS syndrome
Orphanet:263355	\N	\N	"" []	Orphanet:263355	"" []	75380	\N	\N	EFO	0	EFO	ATR-X-related syndrome	ATR-X-related syndrome
Orphanet:102283	Orphanet:263355	\N	"" []	Orphanet:263355	"" []	217856	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	ATR-X-related syndrome
Orphanet:98464	Orphanet:263355	\N	"" []	Orphanet:263355	"" []	217857	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	ATR-X-related syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:263355	"" []	572731	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	ATR-X-related syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:263355	"" []	572732	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	ATR-X-related syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:263355	"" []	1155180	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	ATR-X-related syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:263355	"" []	1155181	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	ATR-X-related syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263355	"" []	2037957	\N	\N	EFO	4	EFO	genetic disorder	ATR-X-related syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:263355	"" []	2037958	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	ATR-X-related syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263355	"" []	4395352	\N	\N	EFO	6	EFO	disease	ATR-X-related syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263355	"" []	3188275	\N	\N	EFO	5	EFO	genetic disorder	ATR-X-related syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263355	"" []	5182257	\N	\N	EFO	7	EFO	disposition	ATR-X-related syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263355	"" []	5997615	\N	\N	EFO	8	EFO	material property	ATR-X-related syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263355	"" []	6550964	\N	\N	EFO	9	EFO	experimental factor	ATR-X-related syndrome
Orphanet:2634	\N	\N	"" []	Orphanet:2634	"" []	75381	\N	\N	EFO	0	EFO	Mesomelic dwarfism, Reinhardt-Pfeiffer type	Mesomelic dwarfism, Reinhardt-Pfeiffer type
Orphanet:93438	Orphanet:2634	\N	"" []	Orphanet:2634	"" []	217858	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Mesomelic dwarfism, Reinhardt-Pfeiffer type
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:2634	"" []	572733	\N	\N	EFO	2	EFO	Primary bone dysplasia	Mesomelic dwarfism, Reinhardt-Pfeiffer type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2634	"" []	1155182	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mesomelic dwarfism, Reinhardt-Pfeiffer type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2634	"" []	1155183	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Mesomelic dwarfism, Reinhardt-Pfeiffer type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2634	"" []	2037959	\N	\N	EFO	4	EFO	genetic disorder	Mesomelic dwarfism, Reinhardt-Pfeiffer type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2634	"" []	2037960	\N	\N	EFO	4	EFO	bone disease	Mesomelic dwarfism, Reinhardt-Pfeiffer type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2634	"" []	2037961	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mesomelic dwarfism, Reinhardt-Pfeiffer type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2634	"" []	4395355	\N	\N	EFO	6	EFO	disease	Mesomelic dwarfism, Reinhardt-Pfeiffer type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2634	"" []	3188277	\N	\N	EFO	5	EFO	skeletal system disease	Mesomelic dwarfism, Reinhardt-Pfeiffer type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2634	"" []	3188278	\N	\N	EFO	5	EFO	genetic disorder	Mesomelic dwarfism, Reinhardt-Pfeiffer type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2634	"" []	5182258	\N	\N	EFO	7	EFO	disposition	Mesomelic dwarfism, Reinhardt-Pfeiffer type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2634	"" []	4395354	\N	\N	EFO	6	EFO	disease	Mesomelic dwarfism, Reinhardt-Pfeiffer type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2634	"" []	5997616	\N	\N	EFO	8	EFO	material property	Mesomelic dwarfism, Reinhardt-Pfeiffer type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2634	"" []	6550965	\N	\N	EFO	9	EFO	experimental factor	Mesomelic dwarfism, Reinhardt-Pfeiffer type
Orphanet:263410	\N	\N	"" []	Orphanet:263410	"" []	75382	\N	\N	EFO	0	EFO	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Orphanet:183763	Orphanet:263410	\N	"" []	Orphanet:263410	"" []	217859	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Orphanet:298644	Orphanet:263410	\N	"" []	Orphanet:263410	"" []	217860	\N	\N	EFO	1	EFO	Disorder of thiamine metabolism and transport	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:263410	"" []	572734	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
EFO:0005596	Orphanet:298644	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:263410	"" []	572735	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Orphanet:309827	Orphanet:298644	\N	"" []	Orphanet:263410	"" []	572736	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:263410	"" []	1155184	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:263410	"" []	1155185	\N	\N	EFO	3	EFO	metabolic disease	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:263410	"" []	1155186	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263410	"" []	2037962	\N	\N	EFO	4	EFO	genetic disorder	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263410	"" []	4395359	\N	\N	EFO	6	EFO	disease	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:263410	"" []	2037964	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263410	"" []	4395358	\N	\N	EFO	6	EFO	disease	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263410	"" []	5059855	\N	\N	EFO	7	EFO	disposition	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263410	"" []	3188281	\N	\N	EFO	5	EFO	genetic disorder	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:263410	"" []	3188282	\N	\N	EFO	5	EFO	metabolic disease	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263410	"" []	5877134	\N	\N	EFO	8	EFO	material property	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263410	"" []	6470355	\N	\N	EFO	9	EFO	experimental factor	Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Orphanet:263417	\N	\N	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	75383	\N	\N	EFO	0	EFO	Bartter syndrome with hypocalcemia	Bartter syndrome with hypocalcemia
Orphanet:112	Orphanet:263417	\N	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	217861	\N	\N	EFO	1	EFO	Bartter syndrome	Bartter syndrome with hypocalcemia
Orphanet:181402	Orphanet:263417	\N	"" []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	217862	\N	\N	EFO	1	EFO	Syndrome with hypoparathyroidism	Bartter syndrome with hypocalcemia
Orphanet:183592	Orphanet:112	\N	"" []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	572737	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Bartter syndrome with hypocalcemia
Orphanet:208593	Orphanet:181402	\N	"" []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	572738	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Bartter syndrome with hypocalcemia
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	1155187	\N	\N	EFO	3	EFO	Rare genetic renal disease	Bartter syndrome with hypocalcemia
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	1155188	\N	\N	EFO	3	EFO	parathyroid disease	Bartter syndrome with hypocalcemia
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	1155189	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Bartter syndrome with hypocalcemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	2037965	\N	\N	EFO	4	EFO	genetic disorder	Bartter syndrome with hypocalcemia
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	2037966	\N	\N	EFO	4	EFO	calcium metabolic disease	Bartter syndrome with hypocalcemia
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	2037967	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Bartter syndrome with hypocalcemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	4395362	\N	\N	EFO	6	EFO	disease	Bartter syndrome with hypocalcemia
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	3188284	\N	\N	EFO	5	EFO	metabolic disease	Bartter syndrome with hypocalcemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	3188285	\N	\N	EFO	5	EFO	genetic disorder	Bartter syndrome with hypocalcemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	3188286	\N	\N	EFO	5	EFO	endocrine system disease	Bartter syndrome with hypocalcemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	5182260	\N	\N	EFO	7	EFO	disposition	Bartter syndrome with hypocalcemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	4395361	\N	\N	EFO	6	EFO	disease	Bartter syndrome with hypocalcemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	4395363	\N	\N	EFO	6	EFO	disease	Bartter syndrome with hypocalcemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	5997618	\N	\N	EFO	8	EFO	material property	Bartter syndrome with hypocalcemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263417	"Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" []	6550966	\N	\N	EFO	9	EFO	experimental factor	Bartter syndrome with hypocalcemia
Orphanet:263440	\N	\N	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	75384	\N	\N	EFO	0	EFO	Neuroacanthocytosis	Neuroacanthocytosis
Orphanet:158266	Orphanet:263440	\N	"" []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	217863	\N	\N	EFO	1	EFO	Huntington disease-like syndrome	Neuroacanthocytosis
Orphanet:307058	Orphanet:263440	\N	"" []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	217864	\N	\N	EFO	1	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Neuroacanthocytosis
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	572739	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Neuroacanthocytosis
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	572740	\N	\N	EFO	2	EFO	neurodegenerative disease	Neuroacanthocytosis
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	572741	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Neuroacanthocytosis
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	1155190	\N	\N	EFO	3	EFO	neurodegenerative disease	Neuroacanthocytosis
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	1155191	\N	\N	EFO	3	EFO	brain disease	Neuroacanthocytosis
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	1155192	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neuroacanthocytosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	2037968	\N	\N	EFO	4	EFO	nervous system disease	Neuroacanthocytosis
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	1155194	\N	\N	EFO	3	EFO	movement disorder	Neuroacanthocytosis
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	1155195	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neuroacanthocytosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	2037969	\N	\N	EFO	4	EFO	nervous system disease	Neuroacanthocytosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	2037970	\N	\N	EFO	4	EFO	genetic disorder	Neuroacanthocytosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	3000263	\N	\N	EFO	5	EFO	disease	Neuroacanthocytosis
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	2037972	\N	\N	EFO	4	EFO	nervous system disease	Neuroacanthocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	3188287	\N	\N	EFO	5	EFO	disease	Neuroacanthocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	4133710	\N	\N	EFO	6	EFO	disposition	Neuroacanthocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	5182261	\N	\N	EFO	7	EFO	material property	Neuroacanthocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263440	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	5997619	\N	\N	EFO	8	EFO	experimental factor	Neuroacanthocytosis
Orphanet:263455	\N	\N	"" []	Orphanet:263455	"" []	75385	\N	\N	EFO	0	EFO	Hyperinsulinism due to HNF4A deficiency	Hyperinsulinism due to HNF4A deficiency
Orphanet:165985	Orphanet:263455	\N	"" []	Orphanet:263455	"" []	217865	\N	\N	EFO	1	EFO	Diazoxide-sensitive diffuse hyperinsulinism	Hyperinsulinism due to HNF4A deficiency
Orphanet:657	Orphanet:165985	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:263455	"" []	572742	\N	\N	EFO	2	EFO	Congenital isolated hyperinsulinism	Hyperinsulinism due to HNF4A deficiency
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:263455	"" []	1155196	\N	\N	EFO	3	EFO	Familial hyperinsulinism	Hyperinsulinism due to HNF4A deficiency
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:263455	"" []	1155197	\N	\N	EFO	3	EFO	Overgrowth syndrome	Hyperinsulinism due to HNF4A deficiency
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:263455	"" []	2037973	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hyperinsulinism due to HNF4A deficiency
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:263455	"" []	2037974	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Hyperinsulinism due to HNF4A deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263455	"" []	3188289	\N	\N	EFO	5	EFO	genetic disorder	Hyperinsulinism due to HNF4A deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:263455	"" []	3188290	\N	\N	EFO	5	EFO	endocrine system disease	Hyperinsulinism due to HNF4A deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:263455	"" []	3188291	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hyperinsulinism due to HNF4A deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263455	"" []	5413351	\N	\N	EFO	7	EFO	disease	Hyperinsulinism due to HNF4A deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263455	"" []	4395366	\N	\N	EFO	6	EFO	disease	Hyperinsulinism due to HNF4A deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263455	"" []	4395367	\N	\N	EFO	6	EFO	genetic disorder	Hyperinsulinism due to HNF4A deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263455	"" []	5997620	\N	\N	EFO	8	EFO	disposition	Hyperinsulinism due to HNF4A deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263455	"" []	6550967	\N	\N	EFO	9	EFO	material property	Hyperinsulinism due to HNF4A deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263455	"" []	6889184	\N	\N	EFO	10	EFO	experimental factor	Hyperinsulinism due to HNF4A deficiency
Orphanet:263458	\N	\N	"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." []	Orphanet:263458	"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." []	75386	\N	\N	EFO	0	EFO	Hyperinsulinism due to INSR deficiency	Hyperinsulinism due to INSR deficiency
Orphanet:276525	Orphanet:263458	\N	"" []	Orphanet:263458	"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." []	217866	\N	\N	EFO	1	EFO	Familial hyperinsulinism	Hyperinsulinism due to INSR deficiency
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:263458	"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." []	572743	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Hyperinsulinism due to INSR deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263458	"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." []	1155198	\N	\N	EFO	3	EFO	genetic disorder	Hyperinsulinism due to INSR deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:263458	"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." []	1155199	\N	\N	EFO	3	EFO	endocrine system disease	Hyperinsulinism due to INSR deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263458	"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." []	2037975	\N	\N	EFO	4	EFO	disease	Hyperinsulinism due to INSR deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263458	"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." []	2037976	\N	\N	EFO	4	EFO	disease	Hyperinsulinism due to INSR deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263458	"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." []	3188292	\N	\N	EFO	5	EFO	disposition	Hyperinsulinism due to INSR deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263458	"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." []	4395368	\N	\N	EFO	6	EFO	material property	Hyperinsulinism due to INSR deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263458	"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." []	5413352	\N	\N	EFO	7	EFO	experimental factor	Hyperinsulinism due to INSR deficiency
Orphanet:263463	\N	\N	"" []	Orphanet:263463	"" []	75387	\N	\N	EFO	0	EFO	CHST3-related skeletal dysplasia	CHST3-related skeletal dysplasia
Orphanet:309450	Orphanet:263463	\N	"" []	Orphanet:263463	"" []	217867	\N	\N	EFO	1	EFO	Disorder of O-xylosylglycan synthesis	CHST3-related skeletal dysplasia
Orphanet:371195	Orphanet:263463	\N	"" []	Orphanet:263463	"" []	217868	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation-related bone disorder	CHST3-related skeletal dysplasia
Orphanet:93441	Orphanet:263463	\N	"" []	Orphanet:263463	"" []	217869	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	CHST3-related skeletal dysplasia
Orphanet:309447	Orphanet:309450	\N	"" []	Orphanet:263463	"" []	572744	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	CHST3-related skeletal dysplasia
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:263463	"" []	572745	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	CHST3-related skeletal dysplasia
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:263463	"" []	572746	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	CHST3-related skeletal dysplasia
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:263463	"" []	572747	\N	\N	EFO	2	EFO	Primary bone dysplasia	CHST3-related skeletal dysplasia
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:263463	"" []	1155200	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	CHST3-related skeletal dysplasia
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:263463	"" []	1155201	\N	\N	EFO	3	EFO	Rare genetic bone disease	CHST3-related skeletal dysplasia
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:263463	"" []	1155202	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	CHST3-related skeletal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:263463	"" []	1155203	\N	\N	EFO	3	EFO	Rare genetic bone disease	CHST3-related skeletal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:263463	"" []	1155204	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	CHST3-related skeletal dysplasia
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:263463	"" []	2037977	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CHST3-related skeletal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263463	"" []	2037978	\N	\N	EFO	4	EFO	genetic disorder	CHST3-related skeletal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:263463	"" []	2037979	\N	\N	EFO	4	EFO	bone disease	CHST3-related skeletal dysplasia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:263463	"" []	2037980	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	CHST3-related skeletal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:263463	"" []	2037981	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	CHST3-related skeletal dysplasia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263463	"" []	3188293	\N	\N	EFO	5	EFO	genetic disorder	CHST3-related skeletal dysplasia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:263463	"" []	3188294	\N	\N	EFO	5	EFO	metabolic disease	CHST3-related skeletal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263463	"" []	4395369	\N	\N	EFO	6	EFO	disease	CHST3-related skeletal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:263463	"" []	3188296	\N	\N	EFO	5	EFO	skeletal system disease	CHST3-related skeletal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263463	"" []	3188297	\N	\N	EFO	5	EFO	genetic disorder	CHST3-related skeletal dysplasia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263463	"" []	4395370	\N	\N	EFO	6	EFO	disease	CHST3-related skeletal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263463	"" []	5182262	\N	\N	EFO	7	EFO	disposition	CHST3-related skeletal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263463	"" []	4395372	\N	\N	EFO	6	EFO	disease	CHST3-related skeletal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263463	"" []	5997621	\N	\N	EFO	8	EFO	material property	CHST3-related skeletal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263463	"" []	6550968	\N	\N	EFO	9	EFO	experimental factor	CHST3-related skeletal dysplasia
Orphanet:263482	\N	\N	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	75388	\N	\N	EFO	0	EFO	Spondyloepiphyseal dysplasia, Maroteaux type	Spondyloepiphyseal dysplasia, Maroteaux type
Orphanet:253	Orphanet:263482	\N	"" []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	217870	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepiphyseal dysplasia, Maroteaux type
Orphanet:364820	Orphanet:263482	\N	"" []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	217871	\N	\N	EFO	1	EFO	TRPV4-related bone disorder	Spondyloepiphyseal dysplasia, Maroteaux type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	572748	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepiphyseal dysplasia, Maroteaux type
Orphanet:364803	Orphanet:364820	\N	"" []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	572749	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Spondyloepiphyseal dysplasia, Maroteaux type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	1155205	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia, Maroteaux type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	1155206	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepiphyseal dysplasia, Maroteaux type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	1155207	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia, Maroteaux type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	2037982	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepiphyseal dysplasia, Maroteaux type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	2037983	\N	\N	EFO	4	EFO	bone disease	Spondyloepiphyseal dysplasia, Maroteaux type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	2037984	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepiphyseal dysplasia, Maroteaux type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	4395375	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia, Maroteaux type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	3188299	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepiphyseal dysplasia, Maroteaux type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	3188300	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepiphyseal dysplasia, Maroteaux type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	5182263	\N	\N	EFO	7	EFO	disposition	Spondyloepiphyseal dysplasia, Maroteaux type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	4395374	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia, Maroteaux type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	5997622	\N	\N	EFO	8	EFO	material property	Spondyloepiphyseal dysplasia, Maroteaux type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263482	"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." []	6550969	\N	\N	EFO	9	EFO	experimental factor	Spondyloepiphyseal dysplasia, Maroteaux type
Orphanet:263487	\N	\N	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	75389	\N	\N	EFO	0	EFO	COG5-CDG	COG5-CDG
Orphanet:309568	Orphanet:263487	\N	"" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	217872	\N	\N	EFO	1	EFO	Defect in conserved oligomeric Golgi complex	COG5-CDG
Orphanet:371064	Orphanet:263487	\N	"" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	217873	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	COG5-CDG
Orphanet:309526	Orphanet:309568	\N	"" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	572750	\N	\N	EFO	2	EFO	Disorder of multiple glycosylation	COG5-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	572751	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	COG5-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	572752	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	COG5-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	1155208	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	COG5-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	1155209	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	COG5-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	1155210	\N	\N	EFO	3	EFO	Neurometabolic disease	COG5-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	2037985	\N	\N	EFO	4	EFO	Inborn errors of metabolism	COG5-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	2037986	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	COG5-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	2037987	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	COG5-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	3188301	\N	\N	EFO	5	EFO	genetic disorder	COG5-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	3188302	\N	\N	EFO	5	EFO	metabolic disease	COG5-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	3188303	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	COG5-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	4395378	\N	\N	EFO	6	EFO	genetic disorder	COG5-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	5182264	\N	\N	EFO	7	EFO	disease	COG5-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	4395377	\N	\N	EFO	6	EFO	disease	COG5-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	5997623	\N	\N	EFO	8	EFO	disposition	COG5-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	6550970	\N	\N	EFO	9	EFO	material property	COG5-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263487	"Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." []	6889185	\N	\N	EFO	10	EFO	experimental factor	COG5-CDG
Orphanet:263494	\N	\N	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	75390	\N	\N	EFO	0	EFO	DPM3-CDG	DPM3-CDG
Orphanet:309526	Orphanet:263494	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	217874	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	DPM3-CDG
Orphanet:370953	Orphanet:263494	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	217875	\N	\N	EFO	1	EFO	Congenital muscular dystrophy due to dystroglycanopathy	DPM3-CDG
Orphanet:371047	Orphanet:263494	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	217876	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	DPM3-CDG
Orphanet:371176	Orphanet:263494	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	217877	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with dilated cardiomyopathy	DPM3-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	572753	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	DPM3-CDG
Orphanet:97242	Orphanet:370953	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	572754	\N	\N	EFO	2	EFO	Congenital muscular dystrophy	DPM3-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	572755	\N	\N	EFO	2	EFO	Neurometabolic disease	DPM3-CDG
Orphanet:217607	Orphanet:371176	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	572756	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	DPM3-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	1155211	\N	\N	EFO	3	EFO	Inborn errors of metabolism	DPM3-CDG
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	1155212	\N	\N	EFO	3	EFO	Muscular dystrophy	DPM3-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	1155213	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	DPM3-CDG
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	1155214	\N	\N	EFO	3	EFO	cardiomyopathy	DPM3-CDG
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	1155215	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	DPM3-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	2037988	\N	\N	EFO	4	EFO	genetic disorder	DPM3-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	2037989	\N	\N	EFO	4	EFO	metabolic disease	DPM3-CDG
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	2037990	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	DPM3-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	5413358	\N	\N	EFO	7	EFO	genetic disorder	DPM3-CDG
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	2037992	\N	\N	EFO	4	EFO	heart disease	DPM3-CDG
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	2037993	\N	\N	EFO	4	EFO	genetic disorder	DPM3-CDG
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	2037994	\N	\N	EFO	4	EFO	heart disease	DPM3-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	5817627	\N	\N	EFO	8	EFO	disease	DPM3-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	3188306	\N	\N	EFO	5	EFO	disease	DPM3-CDG
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	3188307	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	DPM3-CDG
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	3188308	\N	\N	EFO	5	EFO	cardiovascular disease	DPM3-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	6410031	\N	\N	EFO	9	EFO	disposition	DPM3-CDG
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	4395380	\N	\N	EFO	6	EFO	muscular disease	DPM3-CDG
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	4395381	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	DPM3-CDG
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	4395382	\N	\N	EFO	6	EFO	disease	DPM3-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	6807876	\N	\N	EFO	10	EFO	material property	DPM3-CDG
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	5413357	\N	\N	EFO	7	EFO	skeletal system disease	DPM3-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	7048641	\N	\N	EFO	11	EFO	experimental factor	DPM3-CDG
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263494	"Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." []	6149924	\N	\N	EFO	8	EFO	disease	DPM3-CDG
Orphanet:2635	\N	\N	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	75391	\N	\N	EFO	0	EFO	Metatropic dysplasia	Metatropic dysplasia
Orphanet:253	Orphanet:2635	\N	"" []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	217878	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Metatropic dysplasia
Orphanet:364820	Orphanet:2635	\N	"" []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	217879	\N	\N	EFO	1	EFO	TRPV4-related bone disorder	Metatropic dysplasia
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	572757	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metatropic dysplasia
Orphanet:364803	Orphanet:364820	\N	"" []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	572758	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Metatropic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	1155216	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metatropic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	1155217	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metatropic dysplasia
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	1155218	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metatropic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	2037995	\N	\N	EFO	4	EFO	genetic disorder	Metatropic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	2037996	\N	\N	EFO	4	EFO	bone disease	Metatropic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	2037997	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metatropic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	4395385	\N	\N	EFO	6	EFO	disease	Metatropic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	3188310	\N	\N	EFO	5	EFO	skeletal system disease	Metatropic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	3188311	\N	\N	EFO	5	EFO	genetic disorder	Metatropic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	5182265	\N	\N	EFO	7	EFO	disposition	Metatropic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	4395384	\N	\N	EFO	6	EFO	disease	Metatropic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	5997625	\N	\N	EFO	8	EFO	material property	Metatropic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2635	"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." []	6550972	\N	\N	EFO	9	EFO	experimental factor	Metatropic dysplasia
Orphanet:263501	\N	\N	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	75392	\N	\N	EFO	0	EFO	COG4-CDG	COG4-CDG
Orphanet:309568	Orphanet:263501	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	217880	\N	\N	EFO	1	EFO	Defect in conserved oligomeric Golgi complex	COG4-CDG
Orphanet:371064	Orphanet:263501	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	217881	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	COG4-CDG
Orphanet:371071	Orphanet:263501	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	217882	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	COG4-CDG
Orphanet:371157	Orphanet:263501	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	217883	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	COG4-CDG
Orphanet:309526	Orphanet:309568	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	572759	\N	\N	EFO	2	EFO	Disorder of multiple glycosylation	COG4-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	572760	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	COG4-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	572761	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	COG4-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	572762	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	COG4-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	572763	\N	\N	EFO	2	EFO	Rare metabolic liver disease	COG4-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	1155219	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	COG4-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	1155220	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	COG4-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	1155221	\N	\N	EFO	3	EFO	Neurometabolic disease	COG4-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	1155222	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	COG4-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	2037998	\N	\N	EFO	4	EFO	Inborn errors of metabolism	COG4-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	2037999	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	COG4-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	2038000	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	COG4-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	2038001	\N	\N	EFO	4	EFO	digestive system disease	COG4-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	2038002	\N	\N	EFO	4	EFO	genetic disorder	COG4-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	3188312	\N	\N	EFO	5	EFO	genetic disorder	COG4-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	3188313	\N	\N	EFO	5	EFO	metabolic disease	COG4-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	3188314	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	COG4-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	4395388	\N	\N	EFO	6	EFO	genetic disorder	COG4-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	3188316	\N	\N	EFO	5	EFO	disease	COG4-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	5182266	\N	\N	EFO	7	EFO	disease	COG4-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	4395387	\N	\N	EFO	6	EFO	disease	COG4-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	5877135	\N	\N	EFO	8	EFO	disposition	COG4-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	6470356	\N	\N	EFO	9	EFO	material property	COG4-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263501	"Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." []	6848484	\N	\N	EFO	10	EFO	experimental factor	COG4-CDG
Orphanet:263508	\N	\N	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	75393	\N	\N	EFO	0	EFO	COG1-CDG	COG1-CDG
Orphanet:309568	Orphanet:263508	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	217884	\N	\N	EFO	1	EFO	Defect in conserved oligomeric Golgi complex	COG1-CDG
Orphanet:371064	Orphanet:263508	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	217885	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	COG1-CDG
Orphanet:371183	Orphanet:263508	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	217886	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with cardiac malformation as a major feature	COG1-CDG
Orphanet:371195	Orphanet:263508	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	217887	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation-related bone disorder	COG1-CDG
Orphanet:371212	Orphanet:263508	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	217888	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with deafness as a major feature	COG1-CDG
Orphanet:93454	Orphanet:263508	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	217889	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	COG1-CDG
Orphanet:309526	Orphanet:309568	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	572764	\N	\N	EFO	2	EFO	Disorder of multiple glycosylation	COG1-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	572765	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	COG1-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	572766	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	COG1-CDG
Orphanet:156532	Orphanet:371183	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	572767	\N	\N	EFO	2	EFO	Rare syndrome with cardiac malformations	COG1-CDG
Orphanet:371235	Orphanet:371183	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	572768	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	COG1-CDG
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	572769	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	COG1-CDG
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	572770	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	COG1-CDG
Orphanet:371235	Orphanet:371212	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	572771	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	COG1-CDG
Orphanet:90642	Orphanet:371212	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	572772	\N	\N	EFO	2	EFO	Syndromic genetic deafness	COG1-CDG
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	572773	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	COG1-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	1155223	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	COG1-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	1155224	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	COG1-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	1155225	\N	\N	EFO	3	EFO	Neurometabolic disease	COG1-CDG
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	1155226	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	COG1-CDG
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	1155227	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	COG1-CDG
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	1155228	\N	\N	EFO	3	EFO	Rare genetic bone disease	COG1-CDG
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	1155229	\N	\N	EFO	3	EFO	Rare genetic deafness	COG1-CDG
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	1155230	\N	\N	EFO	3	EFO	Rare genetic bone disease	COG1-CDG
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	1155231	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	COG1-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	2038003	\N	\N	EFO	4	EFO	Inborn errors of metabolism	COG1-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	2038004	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	COG1-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	2038005	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	COG1-CDG
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	2038006	\N	\N	EFO	4	EFO	genetic disorder	COG1-CDG
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	2038007	\N	\N	EFO	4	EFO	heart disease	COG1-CDG
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	2038008	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	COG1-CDG
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	2038009	\N	\N	EFO	4	EFO	genetic disorder	COG1-CDG
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	2038010	\N	\N	EFO	4	EFO	bone disease	COG1-CDG
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	2038011	\N	\N	EFO	4	EFO	genetic disorder	COG1-CDG
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	2038012	\N	\N	EFO	4	EFO	auditory system disease	COG1-CDG
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	2038013	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	COG1-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	3188318	\N	\N	EFO	5	EFO	genetic disorder	COG1-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	3188319	\N	\N	EFO	5	EFO	metabolic disease	COG1-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	3188320	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	COG1-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	4395392	\N	\N	EFO	6	EFO	genetic disorder	COG1-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	5182268	\N	\N	EFO	7	EFO	disease	COG1-CDG
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	3188323	\N	\N	EFO	5	EFO	cardiovascular disease	COG1-CDG
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	3188324	\N	\N	EFO	5	EFO	genetic disorder	COG1-CDG
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	3188325	\N	\N	EFO	5	EFO	skeletal system disease	COG1-CDG
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	3188326	\N	\N	EFO	5	EFO	sensory system disease	COG1-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	4395391	\N	\N	EFO	6	EFO	disease	COG1-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	5877136	\N	\N	EFO	8	EFO	disposition	COG1-CDG
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	4395394	\N	\N	EFO	6	EFO	disease	COG1-CDG
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	4395395	\N	\N	EFO	6	EFO	disease	COG1-CDG
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	4395396	\N	\N	EFO	6	EFO	nervous system disease	COG1-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	6470357	\N	\N	EFO	9	EFO	material property	COG1-CDG
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	5413363	\N	\N	EFO	7	EFO	disease	COG1-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263508	"Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." []	6848485	\N	\N	EFO	10	EFO	experimental factor	COG1-CDG
Orphanet:263516	\N	\N	"" []	Orphanet:263516	"" []	75394	\N	\N	EFO	0	EFO	Progressive myoclonic epilepsy type 3	Progressive myoclonic epilepsy type 3
Orphanet:216	Orphanet:263516	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:263516	"" []	217890	\N	\N	EFO	1	EFO	Neuronal ceroid lipofuscinosis	Progressive myoclonic epilepsy type 3
Orphanet:371047	Orphanet:263516	\N	"" []	Orphanet:263516	"" []	217891	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	Progressive myoclonic epilepsy type 3
Orphanet:98261	Orphanet:263516	\N	"" []	Orphanet:263516	"" []	217892	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Progressive myoclonic epilepsy type 3
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:263516	"" []	572774	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Progressive myoclonic epilepsy type 3
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:263516	"" []	572775	\N	\N	EFO	2	EFO	Lysosomal disease	Progressive myoclonic epilepsy type 3
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:263516	"" []	572776	\N	\N	EFO	2	EFO	Neurometabolic disease	Progressive myoclonic epilepsy type 3
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:263516	"" []	572777	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Progressive myoclonic epilepsy type 3
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:263516	"" []	572778	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Progressive myoclonic epilepsy type 3
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:263516	"" []	572779	\N	\N	EFO	2	EFO	Neurometabolic disease	Progressive myoclonic epilepsy type 3
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:263516	"" []	572780	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Progressive myoclonic epilepsy type 3
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:263516	"" []	572781	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Progressive myoclonic epilepsy type 3
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:263516	"" []	1155232	\N	\N	EFO	3	EFO	neurodegenerative disease	Progressive myoclonic epilepsy type 3
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:263516	"" []	1155233	\N	\N	EFO	3	EFO	brain disease	Progressive myoclonic epilepsy type 3
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:263516	"" []	1155234	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Progressive myoclonic epilepsy type 3
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:263516	"" []	1155235	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Progressive myoclonic epilepsy type 3
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:263516	"" []	1155236	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Progressive myoclonic epilepsy type 3
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:263516	"" []	1155237	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Progressive myoclonic epilepsy type 3
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:263516	"" []	1155238	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Progressive myoclonic epilepsy type 3
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:263516	"" []	1155239	\N	\N	EFO	3	EFO	Epilepsy syndrome	Progressive myoclonic epilepsy type 3
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:263516	"" []	1155240	\N	\N	EFO	3	EFO	Epilepsy syndrome	Progressive myoclonic epilepsy type 3
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:263516	"" []	2038014	\N	\N	EFO	4	EFO	nervous system disease	Progressive myoclonic epilepsy type 3
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:263516	"" []	2038015	\N	\N	EFO	4	EFO	nervous system disease	Progressive myoclonic epilepsy type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263516	"" []	4395401	\N	\N	EFO	6	EFO	genetic disorder	Progressive myoclonic epilepsy type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263516	"" []	2038017	\N	\N	EFO	4	EFO	genetic disorder	Progressive myoclonic epilepsy type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:263516	"" []	2038018	\N	\N	EFO	4	EFO	metabolic disease	Progressive myoclonic epilepsy type 3
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:263516	"" []	2038019	\N	\N	EFO	4	EFO	Retinal dystrophy	Progressive myoclonic epilepsy type 3
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:263516	"" []	2038020	\N	\N	EFO	4	EFO	Rare genetic eye disease	Progressive myoclonic epilepsy type 3
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:263516	"" []	2038021	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Progressive myoclonic epilepsy type 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263516	"" []	3188327	\N	\N	EFO	5	EFO	disease	Progressive myoclonic epilepsy type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263516	"" []	5877138	\N	\N	EFO	8	EFO	disease	Progressive myoclonic epilepsy type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263516	"" []	3188329	\N	\N	EFO	5	EFO	disease	Progressive myoclonic epilepsy type 3
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:263516	"" []	3188330	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Progressive myoclonic epilepsy type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263516	"" []	5413365	\N	\N	EFO	7	EFO	genetic disorder	Progressive myoclonic epilepsy type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:263516	"" []	5413366	\N	\N	EFO	7	EFO	eye disease	Progressive myoclonic epilepsy type 3
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:263516	"" []	3188333	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Progressive myoclonic epilepsy type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263516	"" []	6410032	\N	\N	EFO	9	EFO	disposition	Progressive myoclonic epilepsy type 3
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:263516	"" []	4395398	\N	\N	EFO	6	EFO	Rare genetic eye disease	Progressive myoclonic epilepsy type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263516	"" []	5877139	\N	\N	EFO	8	EFO	disease	Progressive myoclonic epilepsy type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263516	"" []	6807877	\N	\N	EFO	10	EFO	material property	Progressive myoclonic epilepsy type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263516	"" []	7048642	\N	\N	EFO	11	EFO	experimental factor	Progressive myoclonic epilepsy type 3
Orphanet:263534	\N	\N	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	75395	\N	\N	EFO	0	EFO	Acral peeling skin syndrome	Acral peeling skin syndrome
Orphanet:817	Orphanet:263534	\N	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	217893	\N	\N	EFO	1	EFO	Peeling skin syndrome	Acral peeling skin syndrome
Orphanet:281082	Orphanet:817	\N	"" []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	572782	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Acral peeling skin syndrome
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	1155241	\N	\N	EFO	3	EFO	Inherited ichthyosis	Acral peeling skin syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	2038022	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Acral peeling skin syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	3188334	\N	\N	EFO	5	EFO	Rare genetic skin disease	Acral peeling skin syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	4395402	\N	\N	EFO	6	EFO	genetic disorder	Acral peeling skin syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	4395403	\N	\N	EFO	6	EFO	skin disease	Acral peeling skin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	5413367	\N	\N	EFO	7	EFO	disease	Acral peeling skin syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	5413368	\N	\N	EFO	7	EFO	disease	Acral peeling skin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	6149929	\N	\N	EFO	8	EFO	disposition	Acral peeling skin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	6632929	\N	\N	EFO	9	EFO	material property	Acral peeling skin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263534	"Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." []	6925761	\N	\N	EFO	10	EFO	experimental factor	Acral peeling skin syndrome
Orphanet:263543	\N	\N	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	75396	\N	\N	EFO	0	EFO	Generalized peeling skin syndrome	Generalized peeling skin syndrome
Orphanet:817	Orphanet:263543	\N	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	217894	\N	\N	EFO	1	EFO	Peeling skin syndrome	Generalized peeling skin syndrome
Orphanet:281082	Orphanet:817	\N	"" []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	572783	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Generalized peeling skin syndrome
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	1155242	\N	\N	EFO	3	EFO	Inherited ichthyosis	Generalized peeling skin syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	2038023	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Generalized peeling skin syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	3188335	\N	\N	EFO	5	EFO	Rare genetic skin disease	Generalized peeling skin syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	4395404	\N	\N	EFO	6	EFO	genetic disorder	Generalized peeling skin syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	4395405	\N	\N	EFO	6	EFO	skin disease	Generalized peeling skin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	5413369	\N	\N	EFO	7	EFO	disease	Generalized peeling skin syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	5413370	\N	\N	EFO	7	EFO	disease	Generalized peeling skin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	6149930	\N	\N	EFO	8	EFO	disposition	Generalized peeling skin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	6632930	\N	\N	EFO	9	EFO	material property	Generalized peeling skin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263543	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	6925762	\N	\N	EFO	10	EFO	experimental factor	Generalized peeling skin syndrome
Orphanet:263548	\N	\N	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	75397	\N	\N	EFO	0	EFO	Peeling skin syndrome type A	Peeling skin syndrome type A
Orphanet:263543	Orphanet:263548	\N	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	217895	\N	\N	EFO	1	EFO	Generalized peeling skin syndrome	Peeling skin syndrome type A
Orphanet:817	Orphanet:263543	\N	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	572784	\N	\N	EFO	2	EFO	Peeling skin syndrome	Peeling skin syndrome type A
Orphanet:281082	Orphanet:817	\N	"" []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	1155243	\N	\N	EFO	3	EFO	Inherited non-syndromic ichthyosis	Peeling skin syndrome type A
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	2038024	\N	\N	EFO	4	EFO	Inherited ichthyosis	Peeling skin syndrome type A
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	3188336	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Peeling skin syndrome type A
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	4395406	\N	\N	EFO	6	EFO	Rare genetic skin disease	Peeling skin syndrome type A
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	5413371	\N	\N	EFO	7	EFO	genetic disorder	Peeling skin syndrome type A
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	5413372	\N	\N	EFO	7	EFO	skin disease	Peeling skin syndrome type A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	6149931	\N	\N	EFO	8	EFO	disease	Peeling skin syndrome type A
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	6149932	\N	\N	EFO	8	EFO	disease	Peeling skin syndrome type A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	6632931	\N	\N	EFO	9	EFO	disposition	Peeling skin syndrome type A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	6925763	\N	\N	EFO	10	EFO	material property	Peeling skin syndrome type A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263548	"Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." []	7099123	\N	\N	EFO	11	EFO	experimental factor	Peeling skin syndrome type A
Orphanet:263553	\N	\N	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	75398	\N	\N	EFO	0	EFO	Peeling skin syndrome type B	Peeling skin syndrome type B
Orphanet:263543	Orphanet:263553	\N	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	217896	\N	\N	EFO	1	EFO	Generalized peeling skin syndrome	Peeling skin syndrome type B
Orphanet:817	Orphanet:263543	\N	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	572785	\N	\N	EFO	2	EFO	Peeling skin syndrome	Peeling skin syndrome type B
Orphanet:281082	Orphanet:817	\N	"" []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	1155244	\N	\N	EFO	3	EFO	Inherited non-syndromic ichthyosis	Peeling skin syndrome type B
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	2038025	\N	\N	EFO	4	EFO	Inherited ichthyosis	Peeling skin syndrome type B
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	3188337	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Peeling skin syndrome type B
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	4395407	\N	\N	EFO	6	EFO	Rare genetic skin disease	Peeling skin syndrome type B
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	5413373	\N	\N	EFO	7	EFO	genetic disorder	Peeling skin syndrome type B
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	5413374	\N	\N	EFO	7	EFO	skin disease	Peeling skin syndrome type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	6149933	\N	\N	EFO	8	EFO	disease	Peeling skin syndrome type B
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	6149934	\N	\N	EFO	8	EFO	disease	Peeling skin syndrome type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	6632932	\N	\N	EFO	9	EFO	disposition	Peeling skin syndrome type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	6925764	\N	\N	EFO	10	EFO	material property	Peeling skin syndrome type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263553	"Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." []	7099124	\N	\N	EFO	11	EFO	experimental factor	Peeling skin syndrome type B
Orphanet:263558	\N	\N	"" []	Orphanet:263558	"" []	75399	\N	\N	EFO	0	EFO	Generalized peeling skin syndrome type C	Generalized peeling skin syndrome type C
Orphanet:263543	Orphanet:263558	\N	"Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." []	Orphanet:263558	"" []	217897	\N	\N	EFO	1	EFO	Generalized peeling skin syndrome	Generalized peeling skin syndrome type C
Orphanet:817	Orphanet:263543	\N	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	Orphanet:263558	"" []	572786	\N	\N	EFO	2	EFO	Peeling skin syndrome	Generalized peeling skin syndrome type C
Orphanet:281082	Orphanet:817	\N	"" []	Orphanet:263558	"" []	1155245	\N	\N	EFO	3	EFO	Inherited non-syndromic ichthyosis	Generalized peeling skin syndrome type C
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:263558	"" []	2038026	\N	\N	EFO	4	EFO	Inherited ichthyosis	Generalized peeling skin syndrome type C
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:263558	"" []	3188338	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Generalized peeling skin syndrome type C
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:263558	"" []	4395408	\N	\N	EFO	6	EFO	Rare genetic skin disease	Generalized peeling skin syndrome type C
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263558	"" []	5413375	\N	\N	EFO	7	EFO	genetic disorder	Generalized peeling skin syndrome type C
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:263558	"" []	5413376	\N	\N	EFO	7	EFO	skin disease	Generalized peeling skin syndrome type C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263558	"" []	6149935	\N	\N	EFO	8	EFO	disease	Generalized peeling skin syndrome type C
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263558	"" []	6149936	\N	\N	EFO	8	EFO	disease	Generalized peeling skin syndrome type C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263558	"" []	6632933	\N	\N	EFO	9	EFO	disposition	Generalized peeling skin syndrome type C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263558	"" []	6925765	\N	\N	EFO	10	EFO	material property	Generalized peeling skin syndrome type C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263558	"" []	7099125	\N	\N	EFO	11	EFO	experimental factor	Generalized peeling skin syndrome type C
Orphanet:2636	\N	\N	"" []	Orphanet:2636	"" []	75400	\N	\N	EFO	0	EFO	Microcephalic osteodysplastic primordial dwarfism types I and III	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:324761	Orphanet:2636	\N	"" []	Orphanet:2636	"" []	217898	\N	\N	EFO	1	EFO	Microcephalic primordial dwarfism	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:102283	Orphanet:324761	\N	"" []	Orphanet:2636	"" []	572787	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:183763	Orphanet:324761	\N	"" []	Orphanet:2636	"" []	572788	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:269528	Orphanet:324761	\N	"" []	Orphanet:2636	"" []	572789	\N	\N	EFO	2	EFO	Syndrome with microcephaly as major feature	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:93440	Orphanet:324761	\N	"" []	Orphanet:2636	"" []	572790	\N	\N	EFO	2	EFO	Slender bone dysplasia	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2636	"" []	1155246	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2636	"" []	1155247	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:2636	"" []	1155248	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:2636	"" []	1155249	\N	\N	EFO	3	EFO	Primary bone dysplasia	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2636	"" []	2038027	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2636	"" []	2038028	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2636	"" []	2038029	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2636	"" []	2038030	\N	\N	EFO	4	EFO	Rare genetic bone disease	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2636	"" []	2038031	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Microcephalic osteodysplastic primordial dwarfism types I and III
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2636	"" []	4395410	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic osteodysplastic primordial dwarfism types I and III
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2636	"" []	4395411	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2636	"" []	3188341	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2636	"" []	3188342	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Microcephalic osteodysplastic primordial dwarfism types I and III
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2636	"" []	3188343	\N	\N	EFO	5	EFO	genetic disorder	Microcephalic osteodysplastic primordial dwarfism types I and III
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2636	"" []	3188344	\N	\N	EFO	5	EFO	bone disease	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2636	"" []	3188345	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic osteodysplastic primordial dwarfism types I and III
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2636	"" []	5182271	\N	\N	EFO	7	EFO	disease	Microcephalic osteodysplastic primordial dwarfism types I and III
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2636	"" []	4395412	\N	\N	EFO	6	EFO	skeletal system disease	Microcephalic osteodysplastic primordial dwarfism types I and III
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2636	"" []	5997629	\N	\N	EFO	8	EFO	disposition	Microcephalic osteodysplastic primordial dwarfism types I and III
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2636	"" []	5413378	\N	\N	EFO	7	EFO	disease	Microcephalic osteodysplastic primordial dwarfism types I and III
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2636	"" []	6550976	\N	\N	EFO	9	EFO	material property	Microcephalic osteodysplastic primordial dwarfism types I and III
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2636	"" []	6889186	\N	\N	EFO	10	EFO	experimental factor	Microcephalic osteodysplastic primordial dwarfism types I and III
Orphanet:263676	\N	\N	"" []	Orphanet:263676	"" []	75401	\N	\N	EFO	0	EFO	Hereditary epidermolysis bullosa associated with ocular features	Hereditary epidermolysis bullosa associated with ocular features
Orphanet:98696	Orphanet:263676	\N	"" []	Orphanet:263676	"" []	217899	\N	\N	EFO	1	EFO	Genodermatosis with ocular features	Hereditary epidermolysis bullosa associated with ocular features
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:263676	"" []	572791	\N	\N	EFO	2	EFO	Rare genetic eye disease	Hereditary epidermolysis bullosa associated with ocular features
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263676	"" []	1155250	\N	\N	EFO	3	EFO	genetic disorder	Hereditary epidermolysis bullosa associated with ocular features
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:263676	"" []	1155251	\N	\N	EFO	3	EFO	eye disease	Hereditary epidermolysis bullosa associated with ocular features
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263676	"" []	2038032	\N	\N	EFO	4	EFO	disease	Hereditary epidermolysis bullosa associated with ocular features
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263676	"" []	2038033	\N	\N	EFO	4	EFO	disease	Hereditary epidermolysis bullosa associated with ocular features
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263676	"" []	3188346	\N	\N	EFO	5	EFO	disposition	Hereditary epidermolysis bullosa associated with ocular features
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263676	"" []	4395413	\N	\N	EFO	6	EFO	material property	Hereditary epidermolysis bullosa associated with ocular features
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263676	"" []	5413379	\N	\N	EFO	7	EFO	experimental factor	Hereditary epidermolysis bullosa associated with ocular features
Orphanet:2637	\N	\N	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	75402	\N	\N	EFO	0	EFO	Microcephalic osteodysplastic primordial dwarfism type II	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:240371	Orphanet:2637	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	217900	\N	\N	EFO	1	EFO	Syndromic obesity	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:324761	Orphanet:2637	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	217901	\N	\N	EFO	1	EFO	Microcephalic primordial dwarfism	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	572792	\N	\N	EFO	2	EFO	Genetic obesity	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:102283	Orphanet:324761	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	572793	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:183763	Orphanet:324761	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	572794	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:269528	Orphanet:324761	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	572795	\N	\N	EFO	2	EFO	Syndrome with microcephaly as major feature	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:93440	Orphanet:324761	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	572796	\N	\N	EFO	2	EFO	Slender bone dysplasia	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	1155252	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	1155253	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	1155254	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	1155255	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	1155256	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	1155257	\N	\N	EFO	3	EFO	Primary bone dysplasia	Microcephalic osteodysplastic primordial dwarfism type II
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	2038034	\N	\N	EFO	4	EFO	genetic disorder	Microcephalic osteodysplastic primordial dwarfism type II
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	2038035	\N	\N	EFO	4	EFO	endocrine system disease	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	2038036	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	2038037	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	2038038	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	2038039	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	2038040	\N	\N	EFO	4	EFO	Rare genetic bone disease	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	2038041	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Microcephalic osteodysplastic primordial dwarfism type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	5182273	\N	\N	EFO	7	EFO	disease	Microcephalic osteodysplastic primordial dwarfism type II
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	3188348	\N	\N	EFO	5	EFO	disease	Microcephalic osteodysplastic primordial dwarfism type II
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	4395416	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic osteodysplastic primordial dwarfism type II
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	4395417	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	3188351	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	3188352	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Microcephalic osteodysplastic primordial dwarfism type II
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	3188353	\N	\N	EFO	5	EFO	genetic disorder	Microcephalic osteodysplastic primordial dwarfism type II
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	3188354	\N	\N	EFO	5	EFO	bone disease	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	3188355	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic osteodysplastic primordial dwarfism type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	5877140	\N	\N	EFO	8	EFO	disposition	Microcephalic osteodysplastic primordial dwarfism type II
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	4395418	\N	\N	EFO	6	EFO	skeletal system disease	Microcephalic osteodysplastic primordial dwarfism type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	6470359	\N	\N	EFO	9	EFO	material property	Microcephalic osteodysplastic primordial dwarfism type II
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	5413381	\N	\N	EFO	7	EFO	disease	Microcephalic osteodysplastic primordial dwarfism type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2637	"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." []	6848487	\N	\N	EFO	10	EFO	experimental factor	Microcephalic osteodysplastic primordial dwarfism type II
Orphanet:263708	\N	\N	"" []	Orphanet:263708	"" []	75403	\N	\N	EFO	0	EFO	Complex chromosomal rearrangement	Complex chromosomal rearrangement
Orphanet:98127	Orphanet:263708	\N	"" []	Orphanet:263708	"" []	217902	\N	\N	EFO	1	EFO	Autosomal anomaly	Complex chromosomal rearrangement
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:263708	"" []	572797	\N	\N	EFO	2	EFO	Chromosomal anomaly	Complex chromosomal rearrangement
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263708	"" []	1155258	\N	\N	EFO	3	EFO	genetic disorder	Complex chromosomal rearrangement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263708	"" []	2038042	\N	\N	EFO	4	EFO	disease	Complex chromosomal rearrangement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263708	"" []	3188356	\N	\N	EFO	5	EFO	disposition	Complex chromosomal rearrangement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263708	"" []	4395419	\N	\N	EFO	6	EFO	material property	Complex chromosomal rearrangement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263708	"" []	5413382	\N	\N	EFO	7	EFO	experimental factor	Complex chromosomal rearrangement
Orphanet:263714	\N	\N	"" []	Orphanet:263714	"" []	75404	\N	\N	EFO	0	EFO	X chromosome number anomaly	X chromosome number anomaly
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:263714	"" []	217903	\N	\N	EFO	1	EFO	Gonosome number anomaly	X chromosome number anomaly
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:263714	"" []	572798	\N	\N	EFO	2	EFO	Gonosome anomaly	X chromosome number anomaly
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263714	"" []	1155259	\N	\N	EFO	3	EFO	Chromosomal anomaly	X chromosome number anomaly
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263714	"" []	2038043	\N	\N	EFO	4	EFO	genetic disorder	X chromosome number anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263714	"" []	3188357	\N	\N	EFO	5	EFO	disease	X chromosome number anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263714	"" []	4395420	\N	\N	EFO	6	EFO	disposition	X chromosome number anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263714	"" []	5413383	\N	\N	EFO	7	EFO	material property	X chromosome number anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263714	"" []	6149939	\N	\N	EFO	8	EFO	experimental factor	X chromosome number anomaly
Orphanet:263717	\N	\N	"" []	Orphanet:263717	"" []	75405	\N	\N	EFO	0	EFO	X chromosome number anomaly with female phenotype	X chromosome number anomaly with female phenotype
Orphanet:263714	Orphanet:263717	\N	"" []	Orphanet:263717	"" []	217904	\N	\N	EFO	1	EFO	X chromosome number anomaly	X chromosome number anomaly with female phenotype
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:263717	"" []	572799	\N	\N	EFO	2	EFO	Gonosome number anomaly	X chromosome number anomaly with female phenotype
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:263717	"" []	1155260	\N	\N	EFO	3	EFO	Gonosome anomaly	X chromosome number anomaly with female phenotype
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263717	"" []	2038044	\N	\N	EFO	4	EFO	Chromosomal anomaly	X chromosome number anomaly with female phenotype
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263717	"" []	3188358	\N	\N	EFO	5	EFO	genetic disorder	X chromosome number anomaly with female phenotype
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263717	"" []	4395421	\N	\N	EFO	6	EFO	disease	X chromosome number anomaly with female phenotype
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263717	"" []	5413384	\N	\N	EFO	7	EFO	disposition	X chromosome number anomaly with female phenotype
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263717	"" []	6149940	\N	\N	EFO	8	EFO	material property	X chromosome number anomaly with female phenotype
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263717	"" []	6632935	\N	\N	EFO	9	EFO	experimental factor	X chromosome number anomaly with female phenotype
Orphanet:263720	\N	\N	"" []	Orphanet:263720	"" []	75406	\N	\N	EFO	0	EFO	X chromosome number anomaly with male phenotype	X chromosome number anomaly with male phenotype
Orphanet:263714	Orphanet:263720	\N	"" []	Orphanet:263720	"" []	217905	\N	\N	EFO	1	EFO	X chromosome number anomaly	X chromosome number anomaly with male phenotype
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:263720	"" []	572800	\N	\N	EFO	2	EFO	Gonosome number anomaly	X chromosome number anomaly with male phenotype
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:263720	"" []	1155261	\N	\N	EFO	3	EFO	Gonosome anomaly	X chromosome number anomaly with male phenotype
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263720	"" []	2038045	\N	\N	EFO	4	EFO	Chromosomal anomaly	X chromosome number anomaly with male phenotype
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263720	"" []	3188359	\N	\N	EFO	5	EFO	genetic disorder	X chromosome number anomaly with male phenotype
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263720	"" []	4395422	\N	\N	EFO	6	EFO	disease	X chromosome number anomaly with male phenotype
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263720	"" []	5413385	\N	\N	EFO	7	EFO	disposition	X chromosome number anomaly with male phenotype
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263720	"" []	6149941	\N	\N	EFO	8	EFO	material property	X chromosome number anomaly with male phenotype
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263720	"" []	6632936	\N	\N	EFO	9	EFO	experimental factor	X chromosome number anomaly with male phenotype
Orphanet:263723	\N	\N	"" []	Orphanet:263723	"" []	75407	\N	\N	EFO	0	EFO	Polysomy of X chromosome	Polysomy of X chromosome
Orphanet:263717	Orphanet:263723	\N	"" []	Orphanet:263723	"" []	217906	\N	\N	EFO	1	EFO	X chromosome number anomaly with female phenotype	Polysomy of X chromosome
Orphanet:263714	Orphanet:263717	\N	"" []	Orphanet:263723	"" []	572801	\N	\N	EFO	2	EFO	X chromosome number anomaly	Polysomy of X chromosome
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:263723	"" []	1155262	\N	\N	EFO	3	EFO	Gonosome number anomaly	Polysomy of X chromosome
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:263723	"" []	2038046	\N	\N	EFO	4	EFO	Gonosome anomaly	Polysomy of X chromosome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263723	"" []	3188360	\N	\N	EFO	5	EFO	Chromosomal anomaly	Polysomy of X chromosome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263723	"" []	4395423	\N	\N	EFO	6	EFO	genetic disorder	Polysomy of X chromosome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263723	"" []	5413386	\N	\N	EFO	7	EFO	disease	Polysomy of X chromosome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263723	"" []	6149942	\N	\N	EFO	8	EFO	disposition	Polysomy of X chromosome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263723	"" []	6632937	\N	\N	EFO	9	EFO	material property	Polysomy of X chromosome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263723	"" []	6925766	\N	\N	EFO	10	EFO	experimental factor	Polysomy of X chromosome
Orphanet:263726	\N	\N	"" []	Orphanet:263726	"" []	75408	\N	\N	EFO	0	EFO	Partial deletion of chromosome X	Partial deletion of chromosome X
Orphanet:98159	Orphanet:263726	\N	"" []	Orphanet:263726	"" []	217907	\N	\N	EFO	1	EFO	Chromosome X structural anomaly	Partial deletion of chromosome X
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:263726	"" []	572802	\N	\N	EFO	2	EFO	Gonosome structural anomaly	Partial deletion of chromosome X
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:263726	"" []	1155263	\N	\N	EFO	3	EFO	Gonosome anomaly	Partial deletion of chromosome X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263726	"" []	2038047	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263726	"" []	3188361	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263726	"" []	4395424	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263726	"" []	5413387	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263726	"" []	6149943	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263726	"" []	6632938	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome X
Orphanet:263731	\N	\N	"" []	Orphanet:263731	"" []	75409	\N	\N	EFO	0	EFO	Partial monosomy of the short arm of chromosome X	Partial monosomy of the short arm of chromosome X
Orphanet:263726	Orphanet:263731	\N	"" []	Orphanet:263731	"" []	217908	\N	\N	EFO	1	EFO	Partial deletion of chromosome X	Partial monosomy of the short arm of chromosome X
Orphanet:98159	Orphanet:263726	\N	"" []	Orphanet:263731	"" []	572803	\N	\N	EFO	2	EFO	Chromosome X structural anomaly	Partial monosomy of the short arm of chromosome X
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:263731	"" []	1155264	\N	\N	EFO	3	EFO	Gonosome structural anomaly	Partial monosomy of the short arm of chromosome X
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:263731	"" []	2038048	\N	\N	EFO	4	EFO	Gonosome anomaly	Partial monosomy of the short arm of chromosome X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263731	"" []	3188362	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial monosomy of the short arm of chromosome X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263731	"" []	4395425	\N	\N	EFO	6	EFO	genetic disorder	Partial monosomy of the short arm of chromosome X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263731	"" []	5413388	\N	\N	EFO	7	EFO	disease	Partial monosomy of the short arm of chromosome X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263731	"" []	6149944	\N	\N	EFO	8	EFO	disposition	Partial monosomy of the short arm of chromosome X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263731	"" []	6632939	\N	\N	EFO	9	EFO	material property	Partial monosomy of the short arm of chromosome X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263731	"" []	6925767	\N	\N	EFO	10	EFO	experimental factor	Partial monosomy of the short arm of chromosome X
Orphanet:263746	\N	\N	"" []	Orphanet:263746	"" []	75410	\N	\N	EFO	0	EFO	Y chromosome number anomaly	Y chromosome number anomaly
Orphanet:98156	Orphanet:263746	\N	"" []	Orphanet:263746	"" []	217909	\N	\N	EFO	1	EFO	Gonosome number anomaly	Y chromosome number anomaly
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:263746	"" []	572804	\N	\N	EFO	2	EFO	Gonosome anomaly	Y chromosome number anomaly
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263746	"" []	1155265	\N	\N	EFO	3	EFO	Chromosomal anomaly	Y chromosome number anomaly
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263746	"" []	2038049	\N	\N	EFO	4	EFO	genetic disorder	Y chromosome number anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263746	"" []	3188363	\N	\N	EFO	5	EFO	disease	Y chromosome number anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263746	"" []	4395426	\N	\N	EFO	6	EFO	disposition	Y chromosome number anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263746	"" []	5413389	\N	\N	EFO	7	EFO	material property	Y chromosome number anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263746	"" []	6149945	\N	\N	EFO	8	EFO	experimental factor	Y chromosome number anomaly
Orphanet:263749	\N	\N	"" []	Orphanet:263749	"" []	75411	\N	\N	EFO	0	EFO	X and Y chromosomal anomaly	X and Y chromosomal anomaly
Orphanet:98156	Orphanet:263749	\N	"" []	Orphanet:263749	"" []	217910	\N	\N	EFO	1	EFO	Gonosome number anomaly	X and Y chromosomal anomaly
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:263749	"" []	572805	\N	\N	EFO	2	EFO	Gonosome anomaly	X and Y chromosomal anomaly
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263749	"" []	1155266	\N	\N	EFO	3	EFO	Chromosomal anomaly	X and Y chromosomal anomaly
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263749	"" []	2038050	\N	\N	EFO	4	EFO	genetic disorder	X and Y chromosomal anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263749	"" []	3188364	\N	\N	EFO	5	EFO	disease	X and Y chromosomal anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263749	"" []	4395427	\N	\N	EFO	6	EFO	disposition	X and Y chromosomal anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263749	"" []	5413390	\N	\N	EFO	7	EFO	material property	X and Y chromosomal anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263749	"" []	6149946	\N	\N	EFO	8	EFO	experimental factor	X and Y chromosomal anomaly
Orphanet:263756	\N	\N	"" []	Orphanet:263756	"" []	75412	\N	\N	EFO	0	EFO	Partial deletion of the long arm of chromosome X	Partial deletion of the long arm of chromosome X
Orphanet:263726	Orphanet:263756	\N	"" []	Orphanet:263756	"" []	217911	\N	\N	EFO	1	EFO	Partial deletion of chromosome X	Partial deletion of the long arm of chromosome X
Orphanet:98159	Orphanet:263726	\N	"" []	Orphanet:263756	"" []	572806	\N	\N	EFO	2	EFO	Chromosome X structural anomaly	Partial deletion of the long arm of chromosome X
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:263756	"" []	1155267	\N	\N	EFO	3	EFO	Gonosome structural anomaly	Partial deletion of the long arm of chromosome X
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:263756	"" []	2038051	\N	\N	EFO	4	EFO	Gonosome anomaly	Partial deletion of the long arm of chromosome X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263756	"" []	3188365	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the long arm of chromosome X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263756	"" []	4395428	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the long arm of chromosome X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263756	"" []	5413391	\N	\N	EFO	7	EFO	disease	Partial deletion of the long arm of chromosome X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263756	"" []	6149947	\N	\N	EFO	8	EFO	disposition	Partial deletion of the long arm of chromosome X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263756	"" []	6632940	\N	\N	EFO	9	EFO	material property	Partial deletion of the long arm of chromosome X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263756	"" []	6925768	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the long arm of chromosome X
Orphanet:263768	\N	\N	"" []	Orphanet:263768	"" []	75413	\N	\N	EFO	0	EFO	Partial duplication of chromosome X	Partial duplication of chromosome X
Orphanet:98159	Orphanet:263768	\N	"" []	Orphanet:263768	"" []	217912	\N	\N	EFO	1	EFO	Chromosome X structural anomaly	Partial duplication of chromosome X
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:263768	"" []	572807	\N	\N	EFO	2	EFO	Gonosome structural anomaly	Partial duplication of chromosome X
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:263768	"" []	1155268	\N	\N	EFO	3	EFO	Gonosome anomaly	Partial duplication of chromosome X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263768	"" []	2038052	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial duplication of chromosome X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263768	"" []	3188366	\N	\N	EFO	5	EFO	genetic disorder	Partial duplication of chromosome X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263768	"" []	4395429	\N	\N	EFO	6	EFO	disease	Partial duplication of chromosome X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263768	"" []	5413392	\N	\N	EFO	7	EFO	disposition	Partial duplication of chromosome X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263768	"" []	6149948	\N	\N	EFO	8	EFO	material property	Partial duplication of chromosome X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263768	"" []	6632941	\N	\N	EFO	9	EFO	experimental factor	Partial duplication of chromosome X
Orphanet:263775	\N	\N	"" []	Orphanet:263775	"" []	75414	\N	\N	EFO	0	EFO	Partial duplication of the short arm of chromosome X	Partial duplication of the short arm of chromosome X
Orphanet:263768	Orphanet:263775	\N	"" []	Orphanet:263775	"" []	217913	\N	\N	EFO	1	EFO	Partial duplication of chromosome X	Partial duplication of the short arm of chromosome X
Orphanet:98159	Orphanet:263768	\N	"" []	Orphanet:263775	"" []	572808	\N	\N	EFO	2	EFO	Chromosome X structural anomaly	Partial duplication of the short arm of chromosome X
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:263775	"" []	1155269	\N	\N	EFO	3	EFO	Gonosome structural anomaly	Partial duplication of the short arm of chromosome X
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:263775	"" []	2038053	\N	\N	EFO	4	EFO	Gonosome anomaly	Partial duplication of the short arm of chromosome X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263775	"" []	3188367	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the short arm of chromosome X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263775	"" []	4395430	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the short arm of chromosome X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263775	"" []	5413393	\N	\N	EFO	7	EFO	disease	Partial duplication of the short arm of chromosome X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263775	"" []	6149949	\N	\N	EFO	8	EFO	disposition	Partial duplication of the short arm of chromosome X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263775	"" []	6632942	\N	\N	EFO	9	EFO	material property	Partial duplication of the short arm of chromosome X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263775	"" []	6925769	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the short arm of chromosome X
Orphanet:263783	\N	\N	"" []	Orphanet:263783	"" []	75415	\N	\N	EFO	0	EFO	Partial duplication of the long arm of chromosome X	Partial duplication of the long arm of chromosome X
Orphanet:263768	Orphanet:263783	\N	"" []	Orphanet:263783	"" []	217914	\N	\N	EFO	1	EFO	Partial duplication of chromosome X	Partial duplication of the long arm of chromosome X
Orphanet:98159	Orphanet:263768	\N	"" []	Orphanet:263783	"" []	572809	\N	\N	EFO	2	EFO	Chromosome X structural anomaly	Partial duplication of the long arm of chromosome X
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:263783	"" []	1155270	\N	\N	EFO	3	EFO	Gonosome structural anomaly	Partial duplication of the long arm of chromosome X
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:263783	"" []	2038054	\N	\N	EFO	4	EFO	Gonosome anomaly	Partial duplication of the long arm of chromosome X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263783	"" []	3188368	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the long arm of chromosome X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263783	"" []	4395431	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the long arm of chromosome X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263783	"" []	5413394	\N	\N	EFO	7	EFO	disease	Partial duplication of the long arm of chromosome X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263783	"" []	6149950	\N	\N	EFO	8	EFO	disposition	Partial duplication of the long arm of chromosome X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263783	"" []	6632943	\N	\N	EFO	9	EFO	material property	Partial duplication of the long arm of chromosome X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263783	"" []	6925770	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the long arm of chromosome X
Orphanet:263793	\N	\N	"" []	Orphanet:263793	"" []	75416	\N	\N	EFO	0	EFO	Uniparental disomy of chromosome X	Uniparental disomy of chromosome X
Orphanet:98159	Orphanet:263793	\N	"" []	Orphanet:263793	"" []	217915	\N	\N	EFO	1	EFO	Chromosome X structural anomaly	Uniparental disomy of chromosome X
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:263793	"" []	572810	\N	\N	EFO	2	EFO	Gonosome structural anomaly	Uniparental disomy of chromosome X
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:263793	"" []	1155271	\N	\N	EFO	3	EFO	Gonosome anomaly	Uniparental disomy of chromosome X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:263793	"" []	2038055	\N	\N	EFO	4	EFO	Chromosomal anomaly	Uniparental disomy of chromosome X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:263793	"" []	3188369	\N	\N	EFO	5	EFO	genetic disorder	Uniparental disomy of chromosome X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:263793	"" []	4395432	\N	\N	EFO	6	EFO	disease	Uniparental disomy of chromosome X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:263793	"" []	5413395	\N	\N	EFO	7	EFO	disposition	Uniparental disomy of chromosome X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:263793	"" []	6149951	\N	\N	EFO	8	EFO	material property	Uniparental disomy of chromosome X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:263793	"" []	6632944	\N	\N	EFO	9	EFO	experimental factor	Uniparental disomy of chromosome X
Orphanet:2639	\N	\N	"" []	Orphanet:2639	"" []	75417	\N	\N	EFO	0	EFO	Fibular aplasia - complex brachydactyly	Fibular aplasia - complex brachydactyly
Orphanet:404574	Orphanet:2639	\N	"" []	Orphanet:2639	"" []	217916	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Fibular aplasia - complex brachydactyly
Orphanet:93437	Orphanet:2639	\N	"" []	Orphanet:2639	"" []	217917	\N	\N	EFO	1	EFO	Acromesomelic dysplasia	Fibular aplasia - complex brachydactyly
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2639	"" []	572811	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Fibular aplasia - complex brachydactyly
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2639	"" []	572812	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Fibular aplasia - complex brachydactyly
Orphanet:364526	Orphanet:93437	\N	"" []	Orphanet:2639	"" []	572813	\N	\N	EFO	2	EFO	Primary bone dysplasia	Fibular aplasia - complex brachydactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2639	"" []	1155272	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Fibular aplasia - complex brachydactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2639	"" []	1155273	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Fibular aplasia - complex brachydactyly
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2639	"" []	1155274	\N	\N	EFO	3	EFO	Rare genetic bone disease	Fibular aplasia - complex brachydactyly
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2639	"" []	1155275	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Fibular aplasia - complex brachydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2639	"" []	2038056	\N	\N	EFO	4	EFO	Rare genetic bone disease	Fibular aplasia - complex brachydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2639	"" []	2038057	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Fibular aplasia - complex brachydactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2639	"" []	2038058	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Fibular aplasia - complex brachydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2639	"" []	3188370	\N	\N	EFO	5	EFO	genetic disorder	Fibular aplasia - complex brachydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2639	"" []	3188371	\N	\N	EFO	5	EFO	bone disease	Fibular aplasia - complex brachydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2639	"" []	3188372	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Fibular aplasia - complex brachydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2639	"" []	4133713	\N	\N	EFO	6	EFO	genetic disorder	Fibular aplasia - complex brachydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2639	"" []	5182274	\N	\N	EFO	7	EFO	disease	Fibular aplasia - complex brachydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2639	"" []	4133712	\N	\N	EFO	6	EFO	skeletal system disease	Fibular aplasia - complex brachydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2639	"" []	5877141	\N	\N	EFO	8	EFO	disposition	Fibular aplasia - complex brachydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2639	"" []	5182276	\N	\N	EFO	7	EFO	disease	Fibular aplasia - complex brachydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2639	"" []	6470360	\N	\N	EFO	9	EFO	material property	Fibular aplasia - complex brachydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2639	"" []	6848488	\N	\N	EFO	10	EFO	experimental factor	Fibular aplasia - complex brachydactyly
Orphanet:264	\N	\N	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	75418	\N	\N	EFO	0	EFO	Autosomal dominant limb-girdle muscular dystrophy type 1B	Autosomal dominant limb-girdle muscular dystrophy type 1B
Orphanet:102014	Orphanet:264	\N	"" []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	217918	\N	\N	EFO	1	EFO	Autosomal dominant limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1B
Orphanet:217610	Orphanet:264	\N	"" []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	217919	\N	\N	EFO	1	EFO	Neuromuscular disease with dilated cardiomyopathy	Autosomal dominant limb-girdle muscular dystrophy type 1B
Orphanet:263	Orphanet:102014	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	572814	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1B
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	572815	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Autosomal dominant limb-girdle muscular dystrophy type 1B
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	1155276	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1B
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	1155277	\N	\N	EFO	3	EFO	cardiomyopathy	Autosomal dominant limb-girdle muscular dystrophy type 1B
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	1155278	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Autosomal dominant limb-girdle muscular dystrophy type 1B
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	2038062	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1B
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	2038063	\N	\N	EFO	4	EFO	heart disease	Autosomal dominant limb-girdle muscular dystrophy type 1B
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	2038064	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant limb-girdle muscular dystrophy type 1B
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	2038065	\N	\N	EFO	4	EFO	heart disease	Autosomal dominant limb-girdle muscular dystrophy type 1B
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	3188376	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal dominant limb-girdle muscular dystrophy type 1B
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	3188377	\N	\N	EFO	5	EFO	cardiovascular disease	Autosomal dominant limb-girdle muscular dystrophy type 1B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	6632946	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1B
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	4395435	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1B
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	4395436	\N	\N	EFO	6	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	6778687	\N	\N	EFO	10	EFO	disposition	Autosomal dominant limb-girdle muscular dystrophy type 1B
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	5413397	\N	\N	EFO	7	EFO	muscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1B
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	5413398	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal dominant limb-girdle muscular dystrophy type 1B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	7029890	\N	\N	EFO	11	EFO	material property	Autosomal dominant limb-girdle muscular dystrophy type 1B
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	6149953	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal dominant limb-girdle muscular dystrophy type 1B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	6149954	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant limb-girdle muscular dystrophy type 1B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	7181770	\N	\N	EFO	12	EFO	experimental factor	Autosomal dominant limb-girdle muscular dystrophy type 1B
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264	"Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." []	6632945	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1B
Orphanet:2641	\N	\N	"" []	Orphanet:2641	"" []	75419	\N	\N	EFO	0	EFO	Micromelic dwarfism, Fryns type	Micromelic dwarfism, Fryns type
Orphanet:254	Orphanet:2641	\N	"" []	Orphanet:2641	"" []	217920	\N	\N	EFO	1	EFO	Spondylometaphyseal dysplasia	Micromelic dwarfism, Fryns type
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:2641	"" []	572816	\N	\N	EFO	2	EFO	Primary bone dysplasia	Micromelic dwarfism, Fryns type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2641	"" []	1155279	\N	\N	EFO	3	EFO	Rare genetic bone disease	Micromelic dwarfism, Fryns type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2641	"" []	1155280	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Micromelic dwarfism, Fryns type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2641	"" []	2038066	\N	\N	EFO	4	EFO	genetic disorder	Micromelic dwarfism, Fryns type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2641	"" []	2038067	\N	\N	EFO	4	EFO	bone disease	Micromelic dwarfism, Fryns type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2641	"" []	2038068	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Micromelic dwarfism, Fryns type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2641	"" []	4395440	\N	\N	EFO	6	EFO	disease	Micromelic dwarfism, Fryns type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2641	"" []	3188380	\N	\N	EFO	5	EFO	skeletal system disease	Micromelic dwarfism, Fryns type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2641	"" []	3188381	\N	\N	EFO	5	EFO	genetic disorder	Micromelic dwarfism, Fryns type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2641	"" []	5182277	\N	\N	EFO	7	EFO	disposition	Micromelic dwarfism, Fryns type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2641	"" []	4395439	\N	\N	EFO	6	EFO	disease	Micromelic dwarfism, Fryns type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2641	"" []	5997633	\N	\N	EFO	8	EFO	material property	Micromelic dwarfism, Fryns type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2641	"" []	6550980	\N	\N	EFO	9	EFO	experimental factor	Micromelic dwarfism, Fryns type
Orphanet:264200	\N	\N	"" []	Orphanet:264200	"" []	75420	\N	\N	EFO	0	EFO	14q22q23 microdeletion syndrome	14q22q23 microdeletion syndrome
Orphanet:262110	Orphanet:264200	\N	"" []	Orphanet:264200	"" []	217921	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 14	14q22q23 microdeletion syndrome
Orphanet:330206	Orphanet:264200	\N	"" []	Orphanet:264200	"" []	217922	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	14q22q23 microdeletion syndrome
Orphanet:98142	Orphanet:262110	\N	"" []	Orphanet:264200	"" []	572817	\N	\N	EFO	2	EFO	Partial autosomal monosomy	14q22q23 microdeletion syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:264200	"" []	572818	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	14q22q23 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:264200	"" []	1155281	\N	\N	EFO	3	EFO	Autosomal monosomy	14q22q23 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:264200	"" []	1155282	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	14q22q23 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:264200	"" []	2038069	\N	\N	EFO	4	EFO	Autosomal anomaly	14q22q23 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:264200	"" []	2038070	\N	\N	EFO	4	EFO	genetic disorder	14q22q23 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:264200	"" []	3188382	\N	\N	EFO	5	EFO	Chromosomal anomaly	14q22q23 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264200	"" []	5413402	\N	\N	EFO	7	EFO	disease	14q22q23 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:264200	"" []	4395441	\N	\N	EFO	6	EFO	genetic disorder	14q22q23 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:264200	"" []	5877142	\N	\N	EFO	8	EFO	disposition	14q22q23 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:264200	"" []	6470361	\N	\N	EFO	9	EFO	material property	14q22q23 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:264200	"" []	6848489	\N	\N	EFO	10	EFO	experimental factor	14q22q23 microdeletion syndrome
Orphanet:2643	\N	\N	"" []	Orphanet:2643	"" []	75421	\N	\N	EFO	0	EFO	Microcephalic primordial dwarfism, Toriello type	Microcephalic primordial dwarfism, Toriello type
Orphanet:324761	Orphanet:2643	\N	"" []	Orphanet:2643	"" []	217923	\N	\N	EFO	1	EFO	Microcephalic primordial dwarfism	Microcephalic primordial dwarfism, Toriello type
Orphanet:102283	Orphanet:324761	\N	"" []	Orphanet:2643	"" []	572819	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephalic primordial dwarfism, Toriello type
Orphanet:183763	Orphanet:324761	\N	"" []	Orphanet:2643	"" []	572820	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephalic primordial dwarfism, Toriello type
Orphanet:269528	Orphanet:324761	\N	"" []	Orphanet:2643	"" []	572821	\N	\N	EFO	2	EFO	Syndrome with microcephaly as major feature	Microcephalic primordial dwarfism, Toriello type
Orphanet:93440	Orphanet:324761	\N	"" []	Orphanet:2643	"" []	572822	\N	\N	EFO	2	EFO	Slender bone dysplasia	Microcephalic primordial dwarfism, Toriello type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2643	"" []	1155283	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephalic primordial dwarfism, Toriello type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2643	"" []	1155284	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Microcephalic primordial dwarfism, Toriello type
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:2643	"" []	1155285	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephalic primordial dwarfism, Toriello type
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:2643	"" []	1155286	\N	\N	EFO	3	EFO	Primary bone dysplasia	Microcephalic primordial dwarfism, Toriello type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2643	"" []	2038071	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism, Toriello type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2643	"" []	2038072	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephalic primordial dwarfism, Toriello type
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2643	"" []	2038073	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Microcephalic primordial dwarfism, Toriello type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2643	"" []	2038074	\N	\N	EFO	4	EFO	Rare genetic bone disease	Microcephalic primordial dwarfism, Toriello type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2643	"" []	2038075	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Microcephalic primordial dwarfism, Toriello type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2643	"" []	4395444	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic primordial dwarfism, Toriello type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2643	"" []	4395445	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic primordial dwarfism, Toriello type
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2643	"" []	3188386	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism, Toriello type
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2643	"" []	3188387	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Microcephalic primordial dwarfism, Toriello type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2643	"" []	3188388	\N	\N	EFO	5	EFO	genetic disorder	Microcephalic primordial dwarfism, Toriello type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2643	"" []	3188389	\N	\N	EFO	5	EFO	bone disease	Microcephalic primordial dwarfism, Toriello type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2643	"" []	3188390	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism, Toriello type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2643	"" []	5182278	\N	\N	EFO	7	EFO	disease	Microcephalic primordial dwarfism, Toriello type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2643	"" []	4395446	\N	\N	EFO	6	EFO	skeletal system disease	Microcephalic primordial dwarfism, Toriello type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2643	"" []	5997634	\N	\N	EFO	8	EFO	disposition	Microcephalic primordial dwarfism, Toriello type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2643	"" []	5413405	\N	\N	EFO	7	EFO	disease	Microcephalic primordial dwarfism, Toriello type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2643	"" []	6550981	\N	\N	EFO	9	EFO	material property	Microcephalic primordial dwarfism, Toriello type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2643	"" []	6889187	\N	\N	EFO	10	EFO	experimental factor	Microcephalic primordial dwarfism, Toriello type
Orphanet:264431	\N	\N	"" []	Orphanet:264431	"" []	75422	\N	\N	EFO	0	EFO	Partial duplication of the short arm of chromosome 1	Partial duplication of the short arm of chromosome 1
Orphanet:262191	Orphanet:264431	\N	"" []	Orphanet:264431	"" []	217924	\N	\N	EFO	1	EFO	Partial duplication of chromosome 1	Partial duplication of the short arm of chromosome 1
Orphanet:98132	Orphanet:262191	\N	"" []	Orphanet:264431	"" []	572823	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Partial duplication of the short arm of chromosome 1
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:264431	"" []	1155287	\N	\N	EFO	3	EFO	Autosomal trisomy	Partial duplication of the short arm of chromosome 1
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:264431	"" []	2038076	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial duplication of the short arm of chromosome 1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:264431	"" []	3188391	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial duplication of the short arm of chromosome 1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:264431	"" []	4395447	\N	\N	EFO	6	EFO	genetic disorder	Partial duplication of the short arm of chromosome 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264431	"" []	5413406	\N	\N	EFO	7	EFO	disease	Partial duplication of the short arm of chromosome 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:264431	"" []	6149959	\N	\N	EFO	8	EFO	disposition	Partial duplication of the short arm of chromosome 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:264431	"" []	6632948	\N	\N	EFO	9	EFO	material property	Partial duplication of the short arm of chromosome 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:264431	"" []	6925771	\N	\N	EFO	10	EFO	experimental factor	Partial duplication of the short arm of chromosome 1
Orphanet:264450	\N	\N	"" []	Orphanet:264450	"" []	75423	\N	\N	EFO	0	EFO	Trisomy 8p	Trisomy 8p
Orphanet:262758	Orphanet:264450	\N	"" []	Orphanet:264450	"" []	217925	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 8	Trisomy 8p
Orphanet:262638	Orphanet:262758	\N	"" []	Orphanet:264450	"" []	572824	\N	\N	EFO	2	EFO	Partial duplication of chromosome 8	Trisomy 8p
Orphanet:98132	Orphanet:262638	\N	"" []	Orphanet:264450	"" []	1155288	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Trisomy 8p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:264450	"" []	2038077	\N	\N	EFO	4	EFO	Autosomal trisomy	Trisomy 8p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:264450	"" []	3188392	\N	\N	EFO	5	EFO	Autosomal anomaly	Trisomy 8p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:264450	"" []	4395448	\N	\N	EFO	6	EFO	Chromosomal anomaly	Trisomy 8p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:264450	"" []	5413407	\N	\N	EFO	7	EFO	genetic disorder	Trisomy 8p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264450	"" []	6149960	\N	\N	EFO	8	EFO	disease	Trisomy 8p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:264450	"" []	6632949	\N	\N	EFO	9	EFO	disposition	Trisomy 8p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:264450	"" []	6925772	\N	\N	EFO	10	EFO	material property	Trisomy 8p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:264450	"" []	7099126	\N	\N	EFO	11	EFO	experimental factor	Trisomy 8p
Orphanet:2645	\N	\N	"" []	Orphanet:2645	"" []	75424	\N	\N	EFO	0	EFO	Osteoglophonic dwarfism	Osteoglophonic dwarfism
Orphanet:93450	Orphanet:2645	\N	"" []	Orphanet:2645	"" []	217926	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Osteoglophonic dwarfism
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:2645	"" []	572825	\N	\N	EFO	2	EFO	Primary bone dysplasia	Osteoglophonic dwarfism
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2645	"" []	1155289	\N	\N	EFO	3	EFO	Rare genetic bone disease	Osteoglophonic dwarfism
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2645	"" []	1155290	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Osteoglophonic dwarfism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2645	"" []	2038078	\N	\N	EFO	4	EFO	genetic disorder	Osteoglophonic dwarfism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2645	"" []	2038079	\N	\N	EFO	4	EFO	bone disease	Osteoglophonic dwarfism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2645	"" []	2038080	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Osteoglophonic dwarfism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2645	"" []	4395451	\N	\N	EFO	6	EFO	disease	Osteoglophonic dwarfism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2645	"" []	3188394	\N	\N	EFO	5	EFO	skeletal system disease	Osteoglophonic dwarfism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2645	"" []	3188395	\N	\N	EFO	5	EFO	genetic disorder	Osteoglophonic dwarfism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2645	"" []	5182279	\N	\N	EFO	7	EFO	disposition	Osteoglophonic dwarfism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2645	"" []	4395450	\N	\N	EFO	6	EFO	disease	Osteoglophonic dwarfism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2645	"" []	5997635	\N	\N	EFO	8	EFO	material property	Osteoglophonic dwarfism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2645	"" []	6550982	\N	\N	EFO	9	EFO	experimental factor	Osteoglophonic dwarfism
Orphanet:264580	\N	\N	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	75425	\N	\N	EFO	0	EFO	Glycogen storage disease due to liver phosphorylase kinase deficiency	Glycogen storage disease due to liver phosphorylase kinase deficiency
Orphanet:101940	Orphanet:264580	\N	"" []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	217927	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Glycogen storage disease due to liver phosphorylase kinase deficiency
Orphanet:370	Orphanet:264580	\N	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	217928	\N	\N	EFO	1	EFO	Glycogen storage disease due to phosphorylase kinase deficiency	Glycogen storage disease due to liver phosphorylase kinase deficiency
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	572826	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Glycogen storage disease due to liver phosphorylase kinase deficiency
Orphanet:79201	Orphanet:370	\N	"" []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	572827	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to liver phosphorylase kinase deficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	1155291	\N	\N	EFO	3	EFO	digestive system disease	Glycogen storage disease due to liver phosphorylase kinase deficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	1155292	\N	\N	EFO	3	EFO	genetic disorder	Glycogen storage disease due to liver phosphorylase kinase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	1155293	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to liver phosphorylase kinase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	2038081	\N	\N	EFO	4	EFO	disease	Glycogen storage disease due to liver phosphorylase kinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	4395453	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to liver phosphorylase kinase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	2038083	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to liver phosphorylase kinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	5059857	\N	\N	EFO	7	EFO	disposition	Glycogen storage disease due to liver phosphorylase kinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	3188397	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to liver phosphorylase kinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	3188398	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to liver phosphorylase kinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	5877143	\N	\N	EFO	8	EFO	material property	Glycogen storage disease due to liver phosphorylase kinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	4395454	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to liver phosphorylase kinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:264580	"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." []	6470362	\N	\N	EFO	9	EFO	experimental factor	Glycogen storage disease due to liver phosphorylase kinase deficiency
Orphanet:2646	\N	\N	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	75426	\N	\N	EFO	0	EFO	Parastremmatic dwarfism	Parastremmatic dwarfism
Orphanet:364820	Orphanet:2646	\N	"" []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	217929	\N	\N	EFO	1	EFO	TRPV4-related bone disorder	Parastremmatic dwarfism
Orphanet:93439	Orphanet:2646	\N	"" []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	217930	\N	\N	EFO	1	EFO	Bent bone dysplasia	Parastremmatic dwarfism
Orphanet:364803	Orphanet:364820	\N	"" []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	572828	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Parastremmatic dwarfism
Orphanet:364526	Orphanet:93439	\N	"" []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	572829	\N	\N	EFO	2	EFO	Primary bone dysplasia	Parastremmatic dwarfism
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	1155294	\N	\N	EFO	3	EFO	Rare genetic bone disease	Parastremmatic dwarfism
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	1155295	\N	\N	EFO	3	EFO	Rare genetic bone disease	Parastremmatic dwarfism
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	1155296	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Parastremmatic dwarfism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	2038084	\N	\N	EFO	4	EFO	genetic disorder	Parastremmatic dwarfism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	2038085	\N	\N	EFO	4	EFO	bone disease	Parastremmatic dwarfism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	2038086	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Parastremmatic dwarfism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	4395457	\N	\N	EFO	6	EFO	disease	Parastremmatic dwarfism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	3188400	\N	\N	EFO	5	EFO	skeletal system disease	Parastremmatic dwarfism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	3188401	\N	\N	EFO	5	EFO	genetic disorder	Parastremmatic dwarfism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	5182280	\N	\N	EFO	7	EFO	disposition	Parastremmatic dwarfism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	4395456	\N	\N	EFO	6	EFO	disease	Parastremmatic dwarfism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	5997636	\N	\N	EFO	8	EFO	material property	Parastremmatic dwarfism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2646	"Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." []	6550983	\N	\N	EFO	9	EFO	experimental factor	Parastremmatic dwarfism
Orphanet:264675	\N	\N	"Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." []	Orphanet:264675	"Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." []	75427	\N	\N	EFO	0	EFO	Congenital pulmonary alveolar proteinosis	Congenital pulmonary alveolar proteinosis
Orphanet:100049	Orphanet:264675	\N	"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." []	Orphanet:264675	"Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." []	217931	\N	\N	EFO	1	EFO	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Congenital pulmonary alveolar proteinosis
Orphanet:264992	Orphanet:100049	\N	"" []	Orphanet:264675	"Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." []	572830	\N	\N	EFO	2	EFO	Genetic interstitial lung disease	Congenital pulmonary alveolar proteinosis
Orphanet:156610	Orphanet:264992	\N	"" []	Orphanet:264675	"Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." []	1155297	\N	\N	EFO	3	EFO	Rare genetic respiratory disease	Congenital pulmonary alveolar proteinosis
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:264675	"Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." []	2038087	\N	\N	EFO	4	EFO	genetic disorder	Congenital pulmonary alveolar proteinosis
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:264675	"Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." []	2038088	\N	\N	EFO	4	EFO	respiratory system disease	Congenital pulmonary alveolar proteinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264675	"Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." []	3188402	\N	\N	EFO	5	EFO	disease	Congenital pulmonary alveolar proteinosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264675	"Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." []	3188403	\N	\N	EFO	5	EFO	disease	Congenital pulmonary alveolar proteinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:264675	"Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." []	4395458	\N	\N	EFO	6	EFO	disposition	Congenital pulmonary alveolar proteinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:264675	"Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." []	5413411	\N	\N	EFO	7	EFO	material property	Congenital pulmonary alveolar proteinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:264675	"Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." []	6149963	\N	\N	EFO	8	EFO	experimental factor	Congenital pulmonary alveolar proteinosis
Orphanet:2649	\N	\N	"" []	Orphanet:2649	"" []	75428	\N	\N	EFO	0	EFO	Short stature - intellectual disability - eye anomalies - cleft lip/palate	Short stature - intellectual disability - eye anomalies - cleft lip/palate
Orphanet:102283	Orphanet:2649	\N	"" []	Orphanet:2649	"" []	217932	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Short stature - intellectual disability - eye anomalies - cleft lip/palate
Orphanet:139039	Orphanet:2649	\N	"" []	Orphanet:2649	"" []	217933	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Short stature - intellectual disability - eye anomalies - cleft lip/palate
Orphanet:183763	Orphanet:2649	\N	"" []	Orphanet:2649	"" []	217934	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Short stature - intellectual disability - eye anomalies - cleft lip/palate
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2649	"" []	572831	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Short stature - intellectual disability - eye anomalies - cleft lip/palate
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2649	"" []	572832	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Short stature - intellectual disability - eye anomalies - cleft lip/palate
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2649	"" []	572833	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Short stature - intellectual disability - eye anomalies - cleft lip/palate
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2649	"" []	1155298	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Short stature - intellectual disability - eye anomalies - cleft lip/palate
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2649	"" []	1155299	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Short stature - intellectual disability - eye anomalies - cleft lip/palate
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2649	"" []	1155300	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Short stature - intellectual disability - eye anomalies - cleft lip/palate
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2649	"" []	4395460	\N	\N	EFO	6	EFO	genetic disorder	Short stature - intellectual disability - eye anomalies - cleft lip/palate
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2649	"" []	2038090	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Short stature - intellectual disability - eye anomalies - cleft lip/palate
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2649	"" []	2038091	\N	\N	EFO	4	EFO	genetic disorder	Short stature - intellectual disability - eye anomalies - cleft lip/palate
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2649	"" []	5059858	\N	\N	EFO	7	EFO	disease	Short stature - intellectual disability - eye anomalies - cleft lip/palate
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2649	"" []	3188405	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Short stature - intellectual disability - eye anomalies - cleft lip/palate
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2649	"" []	5877144	\N	\N	EFO	8	EFO	disposition	Short stature - intellectual disability - eye anomalies - cleft lip/palate
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2649	"" []	6470363	\N	\N	EFO	9	EFO	material property	Short stature - intellectual disability - eye anomalies - cleft lip/palate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2649	"" []	6848490	\N	\N	EFO	10	EFO	experimental factor	Short stature - intellectual disability - eye anomalies - cleft lip/palate
Orphanet:264992	\N	\N	"" []	Orphanet:264992	"" []	75429	\N	\N	EFO	0	EFO	Genetic interstitial lung disease	Genetic interstitial lung disease
Orphanet:156610	Orphanet:264992	\N	"" []	Orphanet:264992	"" []	217935	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Genetic interstitial lung disease
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:264992	"" []	572834	\N	\N	EFO	2	EFO	genetic disorder	Genetic interstitial lung disease
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:264992	"" []	572835	\N	\N	EFO	2	EFO	respiratory system disease	Genetic interstitial lung disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264992	"" []	1155301	\N	\N	EFO	3	EFO	disease	Genetic interstitial lung disease
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:264992	"" []	1155302	\N	\N	EFO	3	EFO	disease	Genetic interstitial lung disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:264992	"" []	2038092	\N	\N	EFO	4	EFO	disposition	Genetic interstitial lung disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:264992	"" []	3188406	\N	\N	EFO	5	EFO	material property	Genetic interstitial lung disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:264992	"" []	4395461	\N	\N	EFO	6	EFO	experimental factor	Genetic interstitial lung disease
Orphanet:265	\N	\N	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	75430	\N	\N	EFO	0	EFO	Autosomal dominant limb-girdle muscular dystrophy type 1C	Autosomal dominant limb-girdle muscular dystrophy type 1C
Orphanet:102014	Orphanet:265	\N	"" []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	217936	\N	\N	EFO	1	EFO	Autosomal dominant limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1C
Orphanet:207078	Orphanet:265	\N	"" []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	217937	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of caveolin-3	Autosomal dominant limb-girdle muscular dystrophy type 1C
Orphanet:263	Orphanet:102014	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	572836	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1C
Orphanet:207049	Orphanet:207078	\N	"" []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	572837	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal dominant limb-girdle muscular dystrophy type 1C
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	1155303	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1C
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	1155304	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1C
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	2038093	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1C
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	5413413	\N	\N	EFO	7	EFO	muscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1C
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	5413414	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal dominant limb-girdle muscular dystrophy type 1C
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	3188407	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal dominant limb-girdle muscular dystrophy type 1C
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	5817628	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal dominant limb-girdle muscular dystrophy type 1C
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	5817629	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant limb-girdle muscular dystrophy type 1C
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	4395462	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1C
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	6410033	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	6410034	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	6807878	\N	\N	EFO	10	EFO	disposition	Autosomal dominant limb-girdle muscular dystrophy type 1C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	7048643	\N	\N	EFO	11	EFO	material property	Autosomal dominant limb-girdle muscular dystrophy type 1C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:265	"Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." []	7190215	\N	\N	EFO	12	EFO	experimental factor	Autosomal dominant limb-girdle muscular dystrophy type 1C
Orphanet:2650	\N	\N	"" []	Orphanet:2650	"" []	75431	\N	\N	EFO	0	EFO	Dwarfism - intellectual disability - eye abnormality	Dwarfism - intellectual disability - eye abnormality
Orphanet:102283	Orphanet:2650	\N	"" []	Orphanet:2650	"" []	217938	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Dwarfism - intellectual disability - eye abnormality
Orphanet:183763	Orphanet:2650	\N	"" []	Orphanet:2650	"" []	217939	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Dwarfism - intellectual disability - eye abnormality
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2650	"" []	572838	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Dwarfism - intellectual disability - eye abnormality
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2650	"" []	572839	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Dwarfism - intellectual disability - eye abnormality
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2650	"" []	1155305	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dwarfism - intellectual disability - eye abnormality
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2650	"" []	1155306	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Dwarfism - intellectual disability - eye abnormality
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2650	"" []	2038096	\N	\N	EFO	4	EFO	genetic disorder	Dwarfism - intellectual disability - eye abnormality
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2650	"" []	2038097	\N	\N	EFO	4	EFO	genetic disorder	Dwarfism - intellectual disability - eye abnormality
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2650	"" []	3188410	\N	\N	EFO	5	EFO	disease	Dwarfism - intellectual disability - eye abnormality
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2650	"" []	4395465	\N	\N	EFO	6	EFO	disposition	Dwarfism - intellectual disability - eye abnormality
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2650	"" []	5413416	\N	\N	EFO	7	EFO	material property	Dwarfism - intellectual disability - eye abnormality
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2650	"" []	6149966	\N	\N	EFO	8	EFO	experimental factor	Dwarfism - intellectual disability - eye abnormality
Orphanet:2653	\N	\N	"" []	Orphanet:2653	"" []	75432	\N	\N	EFO	0	EFO	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
Orphanet:90642	Orphanet:2653	\N	"" []	Orphanet:2653	"" []	217940	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
Orphanet:98661	Orphanet:2653	\N	"" []	Orphanet:2653	"" []	217941	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2653	"" []	572840	\N	\N	EFO	2	EFO	Rare genetic deafness	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:2653	"" []	572841	\N	\N	EFO	2	EFO	Retinal dystrophy	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2653	"" []	1155307	\N	\N	EFO	3	EFO	genetic disorder	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2653	"" []	1155308	\N	\N	EFO	3	EFO	auditory system disease	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:2653	"" []	1155309	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2653	"" []	4395468	\N	\N	EFO	6	EFO	disease	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2653	"" []	2038099	\N	\N	EFO	4	EFO	sensory system disease	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:2653	"" []	2038100	\N	\N	EFO	4	EFO	Rare genetic eye disease	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2653	"" []	5059859	\N	\N	EFO	7	EFO	disposition	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2653	"" []	3188412	\N	\N	EFO	5	EFO	nervous system disease	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2653	"" []	3188413	\N	\N	EFO	5	EFO	genetic disorder	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2653	"" []	3188414	\N	\N	EFO	5	EFO	eye disease	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2653	"" []	5877145	\N	\N	EFO	8	EFO	material property	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2653	"" []	4395467	\N	\N	EFO	6	EFO	disease	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2653	"" []	4395469	\N	\N	EFO	6	EFO	disease	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2653	"" []	6470364	\N	\N	EFO	9	EFO	experimental factor	Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
Orphanet:2655	\N	\N	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	75433	\N	\N	EFO	0	EFO	Thanatophoric dysplasia	Thanatophoric dysplasia
Orphanet:364536	Orphanet:2655	\N	"" []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	217942	\N	\N	EFO	1	EFO	Primary bone dysplasia with micromelia	Thanatophoric dysplasia
Orphanet:93420	Orphanet:2655	\N	"" []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	217943	\N	\N	EFO	1	EFO	FGFR3-related chondrodysplasia	Thanatophoric dysplasia
Orphanet:364526	Orphanet:364536	\N	"" []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	572842	\N	\N	EFO	2	EFO	Primary bone dysplasia	Thanatophoric dysplasia
Orphanet:364803	Orphanet:93420	\N	"" []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	572843	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Thanatophoric dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	1155310	\N	\N	EFO	3	EFO	Rare genetic bone disease	Thanatophoric dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	1155311	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Thanatophoric dysplasia
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	1155312	\N	\N	EFO	3	EFO	Rare genetic bone disease	Thanatophoric dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	2038101	\N	\N	EFO	4	EFO	genetic disorder	Thanatophoric dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	2038102	\N	\N	EFO	4	EFO	bone disease	Thanatophoric dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	2038103	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Thanatophoric dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	4395472	\N	\N	EFO	6	EFO	disease	Thanatophoric dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	3188416	\N	\N	EFO	5	EFO	skeletal system disease	Thanatophoric dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	3188417	\N	\N	EFO	5	EFO	genetic disorder	Thanatophoric dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	5182281	\N	\N	EFO	7	EFO	disposition	Thanatophoric dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	4395471	\N	\N	EFO	6	EFO	disease	Thanatophoric dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	5997637	\N	\N	EFO	8	EFO	material property	Thanatophoric dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2655	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	6550984	\N	\N	EFO	9	EFO	experimental factor	Thanatophoric dysplasia
Orphanet:2658	\N	\N	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	75434	\N	\N	EFO	0	EFO	Lenz-Majewski hyperostotic dwarfism	Lenz-Majewski hyperostotic dwarfism
Orphanet:102283	Orphanet:2658	\N	"" []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	217944	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Lenz-Majewski hyperostotic dwarfism
Orphanet:183763	Orphanet:2658	\N	"" []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	217945	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Lenz-Majewski hyperostotic dwarfism
Orphanet:93444	Orphanet:2658	\N	"" []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	217946	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Lenz-Majewski hyperostotic dwarfism
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	572844	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lenz-Majewski hyperostotic dwarfism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	572845	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Lenz-Majewski hyperostotic dwarfism
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	572846	\N	\N	EFO	2	EFO	Primary bone dysplasia	Lenz-Majewski hyperostotic dwarfism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	1155313	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lenz-Majewski hyperostotic dwarfism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	1155314	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Lenz-Majewski hyperostotic dwarfism
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	1155315	\N	\N	EFO	3	EFO	Rare genetic bone disease	Lenz-Majewski hyperostotic dwarfism
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	1155316	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Lenz-Majewski hyperostotic dwarfism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	3188420	\N	\N	EFO	5	EFO	genetic disorder	Lenz-Majewski hyperostotic dwarfism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	2038105	\N	\N	EFO	4	EFO	genetic disorder	Lenz-Majewski hyperostotic dwarfism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	2038106	\N	\N	EFO	4	EFO	genetic disorder	Lenz-Majewski hyperostotic dwarfism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	2038107	\N	\N	EFO	4	EFO	bone disease	Lenz-Majewski hyperostotic dwarfism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	2038108	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lenz-Majewski hyperostotic dwarfism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	4133714	\N	\N	EFO	6	EFO	disease	Lenz-Majewski hyperostotic dwarfism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	3188419	\N	\N	EFO	5	EFO	skeletal system disease	Lenz-Majewski hyperostotic dwarfism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	5182282	\N	\N	EFO	7	EFO	disposition	Lenz-Majewski hyperostotic dwarfism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	4395474	\N	\N	EFO	6	EFO	disease	Lenz-Majewski hyperostotic dwarfism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	5997638	\N	\N	EFO	8	EFO	material property	Lenz-Majewski hyperostotic dwarfism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2658	"Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." []	6550985	\N	\N	EFO	9	EFO	experimental factor	Lenz-Majewski hyperostotic dwarfism
Orphanet:266	\N	\N	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	75435	\N	\N	EFO	0	EFO	Autosomal dominant limb-girdle muscular dystrophy type 1A	Autosomal dominant limb-girdle muscular dystrophy type 1A
Orphanet:102014	Orphanet:266	\N	"" []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	217947	\N	\N	EFO	1	EFO	Autosomal dominant limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1A
Orphanet:209224	Orphanet:266	\N	"" []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	217948	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of myotilin	Autosomal dominant limb-girdle muscular dystrophy type 1A
Orphanet:263	Orphanet:102014	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	572847	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1A
Orphanet:207049	Orphanet:209224	\N	"" []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	572848	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal dominant limb-girdle muscular dystrophy type 1A
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	1155317	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1A
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	1155318	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1A
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	2038109	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1A
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	5413420	\N	\N	EFO	7	EFO	muscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1A
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	5413421	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal dominant limb-girdle muscular dystrophy type 1A
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	3188421	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal dominant limb-girdle muscular dystrophy type 1A
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	5817630	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal dominant limb-girdle muscular dystrophy type 1A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	5817631	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant limb-girdle muscular dystrophy type 1A
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	4395475	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1A
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	6410035	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	6410036	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	6807879	\N	\N	EFO	10	EFO	disposition	Autosomal dominant limb-girdle muscular dystrophy type 1A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	7048644	\N	\N	EFO	11	EFO	material property	Autosomal dominant limb-girdle muscular dystrophy type 1A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:266	"Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." []	7190216	\N	\N	EFO	12	EFO	experimental factor	Autosomal dominant limb-girdle muscular dystrophy type 1A
Orphanet:2662	\N	\N	"" []	Orphanet:2662	"" []	75436	\N	\N	EFO	0	EFO	Keipert syndrome	Keipert syndrome
Orphanet:330206	Orphanet:2662	\N	"" []	Orphanet:2662	"" []	217949	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Keipert syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2662	"" []	572849	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Keipert syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2662	"" []	1155319	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Keipert syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2662	"" []	2038112	\N	\N	EFO	4	EFO	genetic disorder	Keipert syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2662	"" []	3188424	\N	\N	EFO	5	EFO	disease	Keipert syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2662	"" []	4395478	\N	\N	EFO	6	EFO	disposition	Keipert syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2662	"" []	5413423	\N	\N	EFO	7	EFO	material property	Keipert syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2662	"" []	6149970	\N	\N	EFO	8	EFO	experimental factor	Keipert syndrome
Orphanet:2663	\N	\N	"" []	Orphanet:2663	"" []	75437	\N	\N	EFO	0	EFO	Nathalie syndrome	Nathalie syndrome
Orphanet:108987	Orphanet:2663	\N	"" []	Orphanet:2663	"" []	217950	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Nathalie syndrome
Orphanet:98641	Orphanet:2663	\N	"" []	Orphanet:2663	"" []	217951	\N	\N	EFO	1	EFO	Syndromic cataract	Nathalie syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2663	"" []	572850	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Nathalie syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:2663	"" []	572851	\N	\N	EFO	2	EFO	Rare cataract	Nathalie syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2663	"" []	1155320	\N	\N	EFO	3	EFO	Rare genetic eye disease	Nathalie syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2663	"" []	1155321	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Nathalie syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:2663	"" []	1155322	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Nathalie syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2663	"" []	3188427	\N	\N	EFO	5	EFO	genetic disorder	Nathalie syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2663	"" []	3188428	\N	\N	EFO	5	EFO	eye disease	Nathalie syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2663	"" []	2038115	\N	\N	EFO	4	EFO	genetic disorder	Nathalie syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:2663	"" []	2038116	\N	\N	EFO	4	EFO	Rare genetic eye disease	Nathalie syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2663	"" []	4133715	\N	\N	EFO	6	EFO	disease	Nathalie syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2663	"" []	4133716	\N	\N	EFO	6	EFO	disease	Nathalie syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2663	"" []	5182283	\N	\N	EFO	7	EFO	disposition	Nathalie syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2663	"" []	5997639	\N	\N	EFO	8	EFO	material property	Nathalie syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2663	"" []	6550986	\N	\N	EFO	9	EFO	experimental factor	Nathalie syndrome
Orphanet:2666	\N	\N	"" []	Orphanet:2666	"" []	75438	\N	\N	EFO	0	EFO	Adult familial nephronophthisis - spastic quadriparesia	Adult familial nephronophthisis - spastic quadriparesia
Orphanet:93587	Orphanet:2666	\N	"" []	Orphanet:2666	"" []	217952	\N	\N	EFO	1	EFO	Familial cystic renal disease	Adult familial nephronophthisis - spastic quadriparesia
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:2666	"" []	572852	\N	\N	EFO	2	EFO	kidney disease	Adult familial nephronophthisis - spastic quadriparesia
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:2666	"" []	572853	\N	\N	EFO	2	EFO	Rare genetic renal disease	Adult familial nephronophthisis - spastic quadriparesia
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2666	"" []	1155323	\N	\N	EFO	3	EFO	disease	Adult familial nephronophthisis - spastic quadriparesia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2666	"" []	1155324	\N	\N	EFO	3	EFO	genetic disorder	Adult familial nephronophthisis - spastic quadriparesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2666	"" []	3188430	\N	\N	EFO	5	EFO	disposition	Adult familial nephronophthisis - spastic quadriparesia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2666	"" []	2038118	\N	\N	EFO	4	EFO	disease	Adult familial nephronophthisis - spastic quadriparesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2666	"" []	4133717	\N	\N	EFO	6	EFO	material property	Adult familial nephronophthisis - spastic quadriparesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2666	"" []	5182284	\N	\N	EFO	7	EFO	experimental factor	Adult familial nephronophthisis - spastic quadriparesia
Orphanet:2668	\N	\N	"" []	Orphanet:2668	"" []	75439	\N	\N	EFO	0	EFO	Nephropathy-deafness-hyperparathyroidism syndrome	Nephropathy-deafness-hyperparathyroidism syndrome
Orphanet:90642	Orphanet:2668	\N	"" []	Orphanet:2668	"" []	217953	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Nephropathy-deafness-hyperparathyroidism syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2668	"" []	572854	\N	\N	EFO	2	EFO	Rare genetic deafness	Nephropathy-deafness-hyperparathyroidism syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2668	"" []	1155325	\N	\N	EFO	3	EFO	genetic disorder	Nephropathy-deafness-hyperparathyroidism syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2668	"" []	1155326	\N	\N	EFO	3	EFO	auditory system disease	Nephropathy-deafness-hyperparathyroidism syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2668	"" []	2038119	\N	\N	EFO	4	EFO	disease	Nephropathy-deafness-hyperparathyroidism syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2668	"" []	2038120	\N	\N	EFO	4	EFO	sensory system disease	Nephropathy-deafness-hyperparathyroidism syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2668	"" []	5413426	\N	\N	EFO	7	EFO	disposition	Nephropathy-deafness-hyperparathyroidism syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2668	"" []	3188432	\N	\N	EFO	5	EFO	nervous system disease	Nephropathy-deafness-hyperparathyroidism syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2668	"" []	5877146	\N	\N	EFO	8	EFO	material property	Nephropathy-deafness-hyperparathyroidism syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2668	"" []	4395482	\N	\N	EFO	6	EFO	disease	Nephropathy-deafness-hyperparathyroidism syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2668	"" []	6470365	\N	\N	EFO	9	EFO	experimental factor	Nephropathy-deafness-hyperparathyroidism syndrome
Orphanet:2669	\N	\N	"" []	Orphanet:2669	"" []	75440	\N	\N	EFO	0	EFO	Nephrosis - deafness - urinary tract - digital malformations	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:165707	Orphanet:2669	\N	"" []	Orphanet:2669	"" []	217954	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:330206	Orphanet:2669	\N	"" []	Orphanet:2669	"" []	217955	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:90642	Orphanet:2669	\N	"" []	Orphanet:2669	"" []	217956	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:93547	Orphanet:2669	\N	"" []	Orphanet:2669	"" []	217957	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2669	"" []	572855	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2669	"" []	572856	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2669	"" []	572857	\N	\N	EFO	2	EFO	Rare genetic deafness	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2669	"" []	572858	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2669	"" []	1155327	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2669	"" []	1155328	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Nephrosis - deafness - urinary tract - digital malformations
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2669	"" []	1155329	\N	\N	EFO	3	EFO	genetic disorder	Nephrosis - deafness - urinary tract - digital malformations
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2669	"" []	1155330	\N	\N	EFO	3	EFO	auditory system disease	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2669	"" []	1155331	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2669	"" []	1155332	\N	\N	EFO	3	EFO	Rare genetic renal disease	Nephrosis - deafness - urinary tract - digital malformations
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2669	"" []	2038121	\N	\N	EFO	4	EFO	genetic disorder	Nephrosis - deafness - urinary tract - digital malformations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2669	"" []	2038122	\N	\N	EFO	4	EFO	genetic disorder	Nephrosis - deafness - urinary tract - digital malformations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2669	"" []	3188433	\N	\N	EFO	5	EFO	disease	Nephrosis - deafness - urinary tract - digital malformations
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2669	"" []	2038124	\N	\N	EFO	4	EFO	sensory system disease	Nephrosis - deafness - urinary tract - digital malformations
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2669	"" []	2038125	\N	\N	EFO	4	EFO	genetic disorder	Nephrosis - deafness - urinary tract - digital malformations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2669	"" []	5413428	\N	\N	EFO	7	EFO	disposition	Nephrosis - deafness - urinary tract - digital malformations
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2669	"" []	3188435	\N	\N	EFO	5	EFO	nervous system disease	Nephrosis - deafness - urinary tract - digital malformations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2669	"" []	5877147	\N	\N	EFO	8	EFO	material property	Nephrosis - deafness - urinary tract - digital malformations
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2669	"" []	4395484	\N	\N	EFO	6	EFO	disease	Nephrosis - deafness - urinary tract - digital malformations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2669	"" []	6470366	\N	\N	EFO	9	EFO	experimental factor	Nephrosis - deafness - urinary tract - digital malformations
Orphanet:267	\N	\N	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	75441	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2A	Autosomal recessive limb-girdle muscular dystrophy type 2A
Orphanet:102015	Orphanet:267	\N	"" []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	217958	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2A
Orphanet:207104	Orphanet:267	\N	"" []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	217959	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of calpain	Autosomal recessive limb-girdle muscular dystrophy type 2A
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	572859	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2A
Orphanet:207049	Orphanet:207104	\N	"" []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	572860	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2A
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	1155333	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2A
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	1155334	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2A
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	2038126	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2A
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	5413429	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2A
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	5413430	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2A
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	3188436	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2A
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	5817632	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	5817633	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2A
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	4395485	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2A
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	6410037	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	6410038	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	6807880	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	7048645	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:267	"Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." []	7190217	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2A
Orphanet:2670	\N	\N	"" []	Orphanet:2670	"" []	75442	\N	\N	EFO	0	EFO	Pierson syndrome	Pierson syndrome
Orphanet:102373	Orphanet:2670	\N	"" []	Orphanet:2670	"" []	217960	\N	\N	EFO	1	EFO	Primary glomerular disease	Pierson syndrome
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:2670	"" []	572861	\N	\N	EFO	2	EFO	Genetic glomerular disease	Pierson syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:2670	"" []	1155335	\N	\N	EFO	3	EFO	Rare genetic renal disease	Pierson syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2670	"" []	2038129	\N	\N	EFO	4	EFO	genetic disorder	Pierson syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2670	"" []	3188439	\N	\N	EFO	5	EFO	disease	Pierson syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2670	"" []	4395488	\N	\N	EFO	6	EFO	disposition	Pierson syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2670	"" []	5413432	\N	\N	EFO	7	EFO	material property	Pierson syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2670	"" []	6149973	\N	\N	EFO	8	EFO	experimental factor	Pierson syndrome
Orphanet:2671	\N	\N	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	75443	\N	\N	EFO	0	EFO	Neu-Laxova syndrome	Neu-Laxova syndrome
Orphanet:102011	Orphanet:2671	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	217961	\N	\N	EFO	1	EFO	Lissencephaly type 3	Neu-Laxova syndrome
Orphanet:102283	Orphanet:2671	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	217962	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Neu-Laxova syndrome
Orphanet:281238	Orphanet:2671	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	217963	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with prominent neurologics signs	Neu-Laxova syndrome
Orphanet:48471	Orphanet:102011	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	572862	\N	\N	EFO	2	EFO	Lissencephaly	Neu-Laxova syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	572863	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Neu-Laxova syndrome
Orphanet:281217	Orphanet:281238	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	572864	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Neu-Laxova syndrome
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	1155336	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Neu-Laxova syndrome
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	1155337	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Neu-Laxova syndrome
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	1155338	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Neu-Laxova syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	1155339	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Neu-Laxova syndrome
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	1155340	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Neu-Laxova syndrome
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	2038130	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Neu-Laxova syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	2038131	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Neu-Laxova syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	2038132	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Neu-Laxova syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	4395490	\N	\N	EFO	6	EFO	genetic disorder	Neu-Laxova syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	2038134	\N	\N	EFO	4	EFO	Inherited ichthyosis	Neu-Laxova syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	3188440	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Neu-Laxova syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	3188441	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Neu-Laxova syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	3188442	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Neu-Laxova syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	3188443	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Neu-Laxova syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	6149975	\N	\N	EFO	8	EFO	disease	Neu-Laxova syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	3188445	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Neu-Laxova syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	4395489	\N	\N	EFO	6	EFO	genetic disorder	Neu-Laxova syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	6410039	\N	\N	EFO	9	EFO	disposition	Neu-Laxova syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	4395492	\N	\N	EFO	6	EFO	Rare genetic skin disease	Neu-Laxova syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	6807881	\N	\N	EFO	10	EFO	material property	Neu-Laxova syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	5413434	\N	\N	EFO	7	EFO	genetic disorder	Neu-Laxova syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	5413435	\N	\N	EFO	7	EFO	skin disease	Neu-Laxova syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	7048646	\N	\N	EFO	11	EFO	experimental factor	Neu-Laxova syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2671	"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." []	6149976	\N	\N	EFO	8	EFO	disease	Neu-Laxova syndrome
Orphanet:2673	\N	\N	"" []	Orphanet:2673	"" []	75444	\N	\N	EFO	0	EFO	Neurofaciodigitorenal syndrome	Neurofaciodigitorenal syndrome
Orphanet:102283	Orphanet:2673	\N	"" []	Orphanet:2673	"" []	217964	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Neurofaciodigitorenal syndrome
Orphanet:183763	Orphanet:2673	\N	"" []	Orphanet:2673	"" []	217965	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Neurofaciodigitorenal syndrome
Orphanet:93547	Orphanet:2673	\N	"" []	Orphanet:2673	"" []	217966	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Neurofaciodigitorenal syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2673	"" []	572865	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Neurofaciodigitorenal syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2673	"" []	572866	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Neurofaciodigitorenal syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2673	"" []	572867	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Neurofaciodigitorenal syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2673	"" []	1155341	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Neurofaciodigitorenal syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2673	"" []	1155342	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neurofaciodigitorenal syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2673	"" []	1155343	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Neurofaciodigitorenal syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2673	"" []	1155344	\N	\N	EFO	3	EFO	Rare genetic renal disease	Neurofaciodigitorenal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2673	"" []	2038135	\N	\N	EFO	4	EFO	genetic disorder	Neurofaciodigitorenal syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2673	"" []	2038136	\N	\N	EFO	4	EFO	genetic disorder	Neurofaciodigitorenal syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2673	"" []	2038137	\N	\N	EFO	4	EFO	genetic disorder	Neurofaciodigitorenal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2673	"" []	3188446	\N	\N	EFO	5	EFO	disease	Neurofaciodigitorenal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2673	"" []	4395493	\N	\N	EFO	6	EFO	disposition	Neurofaciodigitorenal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2673	"" []	5413436	\N	\N	EFO	7	EFO	material property	Neurofaciodigitorenal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2673	"" []	6149977	\N	\N	EFO	8	EFO	experimental factor	Neurofaciodigitorenal syndrome
Orphanet:2674	\N	\N	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	75445	\N	\N	EFO	0	EFO	Cyprus facial-neuromusculoskeletal syndrome	Cyprus facial-neuromusculoskeletal syndrome
Orphanet:206634	Orphanet:2674	\N	"" []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	217967	\N	\N	EFO	1	EFO	Genetic skeletal muscle disease	Cyprus facial-neuromusculoskeletal syndrome
Orphanet:330206	Orphanet:2674	\N	"" []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	217968	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Cyprus facial-neuromusculoskeletal syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	572868	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Cyprus facial-neuromusculoskeletal syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	572869	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cyprus facial-neuromusculoskeletal syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	1155345	\N	\N	EFO	3	EFO	muscular disease	Cyprus facial-neuromusculoskeletal syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	1155346	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cyprus facial-neuromusculoskeletal syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	1155347	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cyprus facial-neuromusculoskeletal syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	2038138	\N	\N	EFO	4	EFO	skeletal system disease	Cyprus facial-neuromusculoskeletal syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	2038139	\N	\N	EFO	4	EFO	genetic disorder	Cyprus facial-neuromusculoskeletal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	2038140	\N	\N	EFO	4	EFO	genetic disorder	Cyprus facial-neuromusculoskeletal syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	3188447	\N	\N	EFO	5	EFO	disease	Cyprus facial-neuromusculoskeletal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	3188448	\N	\N	EFO	5	EFO	disease	Cyprus facial-neuromusculoskeletal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	4395494	\N	\N	EFO	6	EFO	disposition	Cyprus facial-neuromusculoskeletal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	5413437	\N	\N	EFO	7	EFO	material property	Cyprus facial-neuromusculoskeletal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2674	"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." []	6149978	\N	\N	EFO	8	EFO	experimental factor	Cyprus facial-neuromusculoskeletal syndrome
Orphanet:2676	\N	\N	"" []	Orphanet:2676	"" []	75446	\N	\N	EFO	0	EFO	Neuroectodermal-endocrine syndrome	Neuroectodermal-endocrine syndrome
Orphanet:102283	Orphanet:2676	\N	"" []	Orphanet:2676	"" []	217969	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Neuroectodermal-endocrine syndrome
Orphanet:183643	Orphanet:2676	\N	"" []	Orphanet:2676	"" []	217970	\N	\N	EFO	1	EFO	Genetic polyendocrinopathy	Neuroectodermal-endocrine syndrome
Orphanet:183763	Orphanet:2676	\N	"" []	Orphanet:2676	"" []	217971	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Neuroectodermal-endocrine syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2676	"" []	572870	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Neuroectodermal-endocrine syndrome
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:2676	"" []	572871	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Neuroectodermal-endocrine syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2676	"" []	572872	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Neuroectodermal-endocrine syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2676	"" []	1155348	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Neuroectodermal-endocrine syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2676	"" []	1155349	\N	\N	EFO	3	EFO	genetic disorder	Neuroectodermal-endocrine syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2676	"" []	1155350	\N	\N	EFO	3	EFO	endocrine system disease	Neuroectodermal-endocrine syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2676	"" []	1155351	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neuroectodermal-endocrine syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2676	"" []	2038141	\N	\N	EFO	4	EFO	genetic disorder	Neuroectodermal-endocrine syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2676	"" []	3188449	\N	\N	EFO	5	EFO	disease	Neuroectodermal-endocrine syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2676	"" []	2038143	\N	\N	EFO	4	EFO	disease	Neuroectodermal-endocrine syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2676	"" []	2038144	\N	\N	EFO	4	EFO	genetic disorder	Neuroectodermal-endocrine syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2676	"" []	4133719	\N	\N	EFO	6	EFO	disposition	Neuroectodermal-endocrine syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2676	"" []	5182286	\N	\N	EFO	7	EFO	material property	Neuroectodermal-endocrine syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2676	"" []	5997641	\N	\N	EFO	8	EFO	experimental factor	Neuroectodermal-endocrine syndrome
Orphanet:2678	\N	\N	"Neurofibromatosis type 6 (NF6), also referred as caf-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several caf-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." []	Orphanet:2678	"Neurofibromatosis type 6 (NF6), also referred as caf-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several caf-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." []	75447	\N	\N	EFO	0	EFO	Neurofibromatosis type 6	Neurofibromatosis type 6
Orphanet:183466	Orphanet:2678	\N	"" []	Orphanet:2678	"Neurofibromatosis type 6 (NF6), also referred as caf-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several caf-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." []	217972	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Neurofibromatosis type 6
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:2678	"Neurofibromatosis type 6 (NF6), also referred as caf-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several caf-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." []	572873	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Neurofibromatosis type 6
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:2678	"Neurofibromatosis type 6 (NF6), also referred as caf-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several caf-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." []	1155352	\N	\N	EFO	3	EFO	Rare genetic skin disease	Neurofibromatosis type 6
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2678	"Neurofibromatosis type 6 (NF6), also referred as caf-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several caf-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." []	2038145	\N	\N	EFO	4	EFO	genetic disorder	Neurofibromatosis type 6
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2678	"Neurofibromatosis type 6 (NF6), also referred as caf-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several caf-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." []	2038146	\N	\N	EFO	4	EFO	skin disease	Neurofibromatosis type 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2678	"Neurofibromatosis type 6 (NF6), also referred as caf-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several caf-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." []	3188451	\N	\N	EFO	5	EFO	disease	Neurofibromatosis type 6
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2678	"Neurofibromatosis type 6 (NF6), also referred as caf-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several caf-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." []	3188452	\N	\N	EFO	5	EFO	disease	Neurofibromatosis type 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2678	"Neurofibromatosis type 6 (NF6), also referred as caf-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several caf-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." []	4395496	\N	\N	EFO	6	EFO	disposition	Neurofibromatosis type 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2678	"Neurofibromatosis type 6 (NF6), also referred as caf-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several caf-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." []	5413439	\N	\N	EFO	7	EFO	material property	Neurofibromatosis type 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2678	"Neurofibromatosis type 6 (NF6), also referred as caf-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several caf-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." []	6149979	\N	\N	EFO	8	EFO	experimental factor	Neurofibromatosis type 6
Orphanet:2679	\N	\N	"" []	Orphanet:2679	"" []	75448	\N	\N	EFO	0	EFO	Infantile axonal neuropathy	Infantile axonal neuropathy
Orphanet:98497	Orphanet:2679	\N	"" []	Orphanet:2679	"" []	217973	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Infantile axonal neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:2679	"" []	572874	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Infantile axonal neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2679	"" []	1155353	\N	\N	EFO	3	EFO	genetic disorder	Infantile axonal neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2679	"" []	2038147	\N	\N	EFO	4	EFO	disease	Infantile axonal neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2679	"" []	3188453	\N	\N	EFO	5	EFO	disposition	Infantile axonal neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2679	"" []	4395497	\N	\N	EFO	6	EFO	material property	Infantile axonal neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2679	"" []	5413440	\N	\N	EFO	7	EFO	experimental factor	Infantile axonal neuropathy
Orphanet:26791	\N	\N	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	75449	\N	\N	EFO	0	EFO	Multiple acyl-CoA dehydrogenase deficiency	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:206953	Orphanet:26791	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	217974	\N	\N	EFO	1	EFO	Muscular lipidosis	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:217591	Orphanet:26791	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	217975	\N	\N	EFO	1	EFO	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:309120	Orphanet:26791	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	217976	\N	\N	EFO	1	EFO	Acyl-CoA dehydrogenase deficiency	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	572875	\N	\N	EFO	2	EFO	Metabolic myopathy	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:99739	Orphanet:217591	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	572876	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:309115	Orphanet:309120	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	572877	\N	\N	EFO	2	EFO	Disorder of mitochondrial fatty acid oxidation	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	1155354	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	1155355	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	1155356	\N	\N	EFO	3	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	2038148	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Multiple acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	2038149	\N	\N	EFO	4	EFO	genetic disorder	Multiple acyl-CoA dehydrogenase deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	2038150	\N	\N	EFO	4	EFO	heart disease	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	2038151	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	3188454	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Multiple acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	6149981	\N	\N	EFO	8	EFO	disease	Multiple acyl-CoA dehydrogenase deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	3188456	\N	\N	EFO	5	EFO	cardiovascular disease	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	3188457	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Multiple acyl-CoA dehydrogenase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	4395498	\N	\N	EFO	6	EFO	muscular disease	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	4395499	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Multiple acyl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	6410040	\N	\N	EFO	9	EFO	disposition	Multiple acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	4395501	\N	\N	EFO	6	EFO	disease	Multiple acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	4395502	\N	\N	EFO	6	EFO	genetic disorder	Multiple acyl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	4395503	\N	\N	EFO	6	EFO	metabolic disease	Multiple acyl-CoA dehydrogenase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	5413441	\N	\N	EFO	7	EFO	skeletal system disease	Multiple acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	5413442	\N	\N	EFO	7	EFO	genetic disorder	Multiple acyl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	6807882	\N	\N	EFO	10	EFO	material property	Multiple acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	5413446	\N	\N	EFO	7	EFO	disease	Multiple acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	6149980	\N	\N	EFO	8	EFO	disease	Multiple acyl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:26791	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	7048647	\N	\N	EFO	11	EFO	experimental factor	Multiple acyl-CoA dehydrogenase deficiency
Orphanet:26792	\N	\N	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	75450	\N	\N	EFO	0	EFO	Short chain acyl-CoA dehydrogenase deficiency	Short chain acyl-CoA dehydrogenase deficiency
Orphanet:206953	Orphanet:26792	\N	"" []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	217977	\N	\N	EFO	1	EFO	Muscular lipidosis	Short chain acyl-CoA dehydrogenase deficiency
Orphanet:309120	Orphanet:26792	\N	"" []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	217978	\N	\N	EFO	1	EFO	Acyl-CoA dehydrogenase deficiency	Short chain acyl-CoA dehydrogenase deficiency
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	572878	\N	\N	EFO	2	EFO	Metabolic myopathy	Short chain acyl-CoA dehydrogenase deficiency
Orphanet:309115	Orphanet:309120	\N	"" []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	572879	\N	\N	EFO	2	EFO	Disorder of mitochondrial fatty acid oxidation	Short chain acyl-CoA dehydrogenase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	1155357	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Short chain acyl-CoA dehydrogenase deficiency
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	1155358	\N	\N	EFO	3	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Short chain acyl-CoA dehydrogenase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	2038152	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Short chain acyl-CoA dehydrogenase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	2038153	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Short chain acyl-CoA dehydrogenase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	3188458	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Short chain acyl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	3188459	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Short chain acyl-CoA dehydrogenase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	4395504	\N	\N	EFO	6	EFO	muscular disease	Short chain acyl-CoA dehydrogenase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	4395505	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Short chain acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	4395506	\N	\N	EFO	6	EFO	genetic disorder	Short chain acyl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	4395507	\N	\N	EFO	6	EFO	metabolic disease	Short chain acyl-CoA dehydrogenase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	5413447	\N	\N	EFO	7	EFO	skeletal system disease	Short chain acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	5413448	\N	\N	EFO	7	EFO	genetic disorder	Short chain acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	6149984	\N	\N	EFO	8	EFO	disease	Short chain acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	5413450	\N	\N	EFO	7	EFO	disease	Short chain acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	6149983	\N	\N	EFO	8	EFO	disease	Short chain acyl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	6550988	\N	\N	EFO	9	EFO	disposition	Short chain acyl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	6889188	\N	\N	EFO	10	EFO	material property	Short chain acyl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:26792	"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." []	7085923	\N	\N	EFO	11	EFO	experimental factor	Short chain acyl-CoA dehydrogenase deficiency
Orphanet:26793	\N	\N	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	75451	\N	\N	EFO	0	EFO	Very long chain acyl-CoA dehydrogenase deficiency	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:206953	Orphanet:26793	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	217979	\N	\N	EFO	1	EFO	Muscular lipidosis	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:217591	Orphanet:26793	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	217980	\N	\N	EFO	1	EFO	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:309120	Orphanet:26793	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	217981	\N	\N	EFO	1	EFO	Acyl-CoA dehydrogenase deficiency	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	572880	\N	\N	EFO	2	EFO	Metabolic myopathy	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:99739	Orphanet:217591	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	572881	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:309115	Orphanet:309120	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	572882	\N	\N	EFO	2	EFO	Disorder of mitochondrial fatty acid oxidation	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	1155359	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	1155360	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	1155361	\N	\N	EFO	3	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	2038154	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	2038155	\N	\N	EFO	4	EFO	genetic disorder	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	2038156	\N	\N	EFO	4	EFO	heart disease	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	2038157	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	3188460	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	6149987	\N	\N	EFO	8	EFO	disease	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	3188462	\N	\N	EFO	5	EFO	cardiovascular disease	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	3188463	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	4395508	\N	\N	EFO	6	EFO	muscular disease	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	4395509	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Very long chain acyl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	6410041	\N	\N	EFO	9	EFO	disposition	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	4395511	\N	\N	EFO	6	EFO	disease	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	4395512	\N	\N	EFO	6	EFO	genetic disorder	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	4395513	\N	\N	EFO	6	EFO	metabolic disease	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	5413451	\N	\N	EFO	7	EFO	skeletal system disease	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	5413452	\N	\N	EFO	7	EFO	genetic disorder	Very long chain acyl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	6807883	\N	\N	EFO	10	EFO	material property	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	5413456	\N	\N	EFO	7	EFO	disease	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	6149986	\N	\N	EFO	8	EFO	disease	Very long chain acyl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:26793	"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." []	7048648	\N	\N	EFO	11	EFO	experimental factor	Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:268	\N	\N	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	75452	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2B	Autosomal recessive limb-girdle muscular dystrophy type 2B
Orphanet:102015	Orphanet:268	\N	"" []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	217982	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2B
Orphanet:207073	Orphanet:268	\N	"" []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	217983	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of dysferlin	Autosomal recessive limb-girdle muscular dystrophy type 2B
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	572883	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2B
Orphanet:207049	Orphanet:207073	\N	"" []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	572884	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2B
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	1155362	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2B
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	1155363	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2B
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	2038158	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2B
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	5413457	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2B
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	5413458	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2B
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	3188464	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2B
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	5817634	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	5817635	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2B
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	4395514	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2B
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	6410042	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	6410043	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	6807884	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	7048649	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268	"Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." []	7190218	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2B
Orphanet:2680	\N	\N	"" []	Orphanet:2680	"" []	75453	\N	\N	EFO	0	EFO	Hypomyelination neuropathy - arthrogryposis	Hypomyelination neuropathy - arthrogryposis
Orphanet:1037	Orphanet:2680	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:2680	"" []	217984	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Hypomyelination neuropathy - arthrogryposis
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:2680	"" []	572885	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Hypomyelination neuropathy - arthrogryposis
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:2680	"" []	1155364	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Hypomyelination neuropathy - arthrogryposis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2680	"" []	2038161	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Hypomyelination neuropathy - arthrogryposis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2680	"" []	3188467	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hypomyelination neuropathy - arthrogryposis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2680	"" []	4395517	\N	\N	EFO	6	EFO	genetic disorder	Hypomyelination neuropathy - arthrogryposis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2680	"" []	5413460	\N	\N	EFO	7	EFO	disease	Hypomyelination neuropathy - arthrogryposis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2680	"" []	6149990	\N	\N	EFO	8	EFO	disposition	Hypomyelination neuropathy - arthrogryposis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2680	"" []	6632955	\N	\N	EFO	9	EFO	material property	Hypomyelination neuropathy - arthrogryposis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2680	"" []	6925774	\N	\N	EFO	10	EFO	experimental factor	Hypomyelination neuropathy - arthrogryposis
Orphanet:268114	\N	\N	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	75454	\N	\N	EFO	0	EFO	RAS-associated autoimmune leukoproliferative disease	RAS-associated autoimmune leukoproliferative disease
Orphanet:169355	Orphanet:268114	\N	"" []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	217985	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with autoimmunity	RAS-associated autoimmune leukoproliferative disease
Orphanet:238510	Orphanet:268114	\N	"" []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	217986	\N	\N	EFO	1	EFO	Lymphoproliferative syndrome	RAS-associated autoimmune leukoproliferative disease
Orphanet:169361	Orphanet:169355	\N	"" []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	572886	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	RAS-associated autoimmune leukoproliferative disease
EFO:0005803	Orphanet:238510	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	572887	\N	\N	EFO	2	EFO	hematological system disease	RAS-associated autoimmune leukoproliferative disease
Orphanet:140162	Orphanet:238510	\N	"" []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	572888	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	RAS-associated autoimmune leukoproliferative disease
Orphanet:169361	Orphanet:238510	\N	"" []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	572889	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	RAS-associated autoimmune leukoproliferative disease
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	1155365	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	RAS-associated autoimmune leukoproliferative disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	1155366	\N	\N	EFO	3	EFO	disease	RAS-associated autoimmune leukoproliferative disease
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	1155367	\N	\N	EFO	3	EFO	genetic disorder	RAS-associated autoimmune leukoproliferative disease
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	2038162	\N	\N	EFO	4	EFO	Primary immunodeficiency	RAS-associated autoimmune leukoproliferative disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	5817636	\N	\N	EFO	8	EFO	disposition	RAS-associated autoimmune leukoproliferative disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	5413461	\N	\N	EFO	7	EFO	disease	RAS-associated autoimmune leukoproliferative disease
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	3188468	\N	\N	EFO	5	EFO	Rare genetic immune disease	RAS-associated autoimmune leukoproliferative disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	6378892	\N	\N	EFO	9	EFO	material property	RAS-associated autoimmune leukoproliferative disease
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	4395518	\N	\N	EFO	6	EFO	genetic disorder	RAS-associated autoimmune leukoproliferative disease
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	4395519	\N	\N	EFO	6	EFO	immune system disease	RAS-associated autoimmune leukoproliferative disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	6778688	\N	\N	EFO	10	EFO	experimental factor	RAS-associated autoimmune leukoproliferative disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268114	"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." []	5413462	\N	\N	EFO	7	EFO	disease	RAS-associated autoimmune leukoproliferative disease
Orphanet:268129	\N	\N	"" []	Orphanet:268129	"" []	75455	\N	\N	EFO	0	EFO	Spheroid body myopathy	Spheroid body myopathy
Orphanet:209224	Orphanet:268129	\N	"" []	Orphanet:268129	"" []	217987	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of myotilin	Spheroid body myopathy
Orphanet:593	Orphanet:268129	\N	"" []	Orphanet:268129	"" []	217988	\N	\N	EFO	1	EFO	Myofibrillar myopathy	Spheroid body myopathy
Orphanet:207049	Orphanet:209224	\N	"" []	Orphanet:268129	"" []	572890	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Spheroid body myopathy
Orphanet:206656	Orphanet:593	\N	"" []	Orphanet:268129	"" []	572891	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Spheroid body myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:268129	"" []	1155368	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Spheroid body myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:268129	"" []	1155369	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Spheroid body myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:268129	"" []	3188473	\N	\N	EFO	5	EFO	muscular disease	Spheroid body myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:268129	"" []	3188474	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spheroid body myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:268129	"" []	2038167	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Spheroid body myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:268129	"" []	4133721	\N	\N	EFO	6	EFO	skeletal system disease	Spheroid body myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268129	"" []	4133722	\N	\N	EFO	6	EFO	genetic disorder	Spheroid body myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268129	"" []	5182288	\N	\N	EFO	7	EFO	disease	Spheroid body myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268129	"" []	5182289	\N	\N	EFO	7	EFO	disease	Spheroid body myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268129	"" []	5997644	\N	\N	EFO	8	EFO	disposition	Spheroid body myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268129	"" []	6550990	\N	\N	EFO	9	EFO	material property	Spheroid body myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268129	"" []	6889189	\N	\N	EFO	10	EFO	experimental factor	Spheroid body myopathy
Orphanet:268145	\N	\N	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	Orphanet:268145	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	75456	\N	\N	EFO	0	EFO	Classic maple syrup urine disease	Classic maple syrup urine disease
Orphanet:511	Orphanet:268145	\N	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	Orphanet:268145	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	217989	\N	\N	EFO	1	EFO	Maple syrup urine disease	Classic maple syrup urine disease
Orphanet:79197	Orphanet:511	\N	"" []	Orphanet:268145	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	572892	\N	\N	EFO	2	EFO	Disorder of branched-chain amino acid metabolism	Classic maple syrup urine disease
Orphanet:79062	Orphanet:79197	\N	"" []	Orphanet:268145	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	1155370	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Classic maple syrup urine disease
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:268145	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	2038168	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Classic maple syrup urine disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268145	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	3188475	\N	\N	EFO	5	EFO	genetic disorder	Classic maple syrup urine disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:268145	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	3188476	\N	\N	EFO	5	EFO	metabolic disease	Classic maple syrup urine disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268145	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	4395523	\N	\N	EFO	6	EFO	disease	Classic maple syrup urine disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268145	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	4395524	\N	\N	EFO	6	EFO	disease	Classic maple syrup urine disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268145	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	5413464	\N	\N	EFO	7	EFO	disposition	Classic maple syrup urine disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268145	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	6149992	\N	\N	EFO	8	EFO	material property	Classic maple syrup urine disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268145	"Classic maple syrup urine disease (MSUD; see this term) is the most severe and probably commonest form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." []	6632957	\N	\N	EFO	9	EFO	experimental factor	Classic maple syrup urine disease
Orphanet:268162	\N	\N	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	Orphanet:268162	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	75457	\N	\N	EFO	0	EFO	Intermediate maple syrup urine disease	Intermediate maple syrup urine disease
Orphanet:511	Orphanet:268162	\N	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	Orphanet:268162	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	217990	\N	\N	EFO	1	EFO	Maple syrup urine disease	Intermediate maple syrup urine disease
Orphanet:79197	Orphanet:511	\N	"" []	Orphanet:268162	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	572893	\N	\N	EFO	2	EFO	Disorder of branched-chain amino acid metabolism	Intermediate maple syrup urine disease
Orphanet:79062	Orphanet:79197	\N	"" []	Orphanet:268162	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	1155371	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Intermediate maple syrup urine disease
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:268162	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	2038169	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Intermediate maple syrup urine disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268162	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	3188477	\N	\N	EFO	5	EFO	genetic disorder	Intermediate maple syrup urine disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:268162	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	3188478	\N	\N	EFO	5	EFO	metabolic disease	Intermediate maple syrup urine disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268162	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	4395525	\N	\N	EFO	6	EFO	disease	Intermediate maple syrup urine disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268162	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	4395526	\N	\N	EFO	6	EFO	disease	Intermediate maple syrup urine disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268162	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	5413465	\N	\N	EFO	7	EFO	disposition	Intermediate maple syrup urine disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268162	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	6149993	\N	\N	EFO	8	EFO	material property	Intermediate maple syrup urine disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268162	"Intermediate maple syrup urine disease (MSUD; see this term) is a milder form of MSUD characterized by persistently raised branched-chain amino and keto-acids, but fewer or no acute episodes of decompensation." []	6632958	\N	\N	EFO	9	EFO	experimental factor	Intermediate maple syrup urine disease
Orphanet:268173	\N	\N	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	Orphanet:268173	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	75458	\N	\N	EFO	0	EFO	Intermittent maple syrup urine disease	Intermittent maple syrup urine disease
Orphanet:511	Orphanet:268173	\N	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	Orphanet:268173	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	217991	\N	\N	EFO	1	EFO	Maple syrup urine disease	Intermittent maple syrup urine disease
Orphanet:79197	Orphanet:511	\N	"" []	Orphanet:268173	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	572894	\N	\N	EFO	2	EFO	Disorder of branched-chain amino acid metabolism	Intermittent maple syrup urine disease
Orphanet:79062	Orphanet:79197	\N	"" []	Orphanet:268173	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	1155372	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Intermittent maple syrup urine disease
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:268173	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	2038170	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Intermittent maple syrup urine disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268173	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	3188479	\N	\N	EFO	5	EFO	genetic disorder	Intermittent maple syrup urine disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:268173	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	3188480	\N	\N	EFO	5	EFO	metabolic disease	Intermittent maple syrup urine disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268173	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	4395527	\N	\N	EFO	6	EFO	disease	Intermittent maple syrup urine disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268173	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	4395528	\N	\N	EFO	6	EFO	disease	Intermittent maple syrup urine disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268173	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	5413466	\N	\N	EFO	7	EFO	disposition	Intermittent maple syrup urine disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268173	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	6149994	\N	\N	EFO	8	EFO	material property	Intermittent maple syrup urine disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268173	"Intermittent maple syrup urine disease (MSUD; see this term) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." []	6632959	\N	\N	EFO	9	EFO	experimental factor	Intermittent maple syrup urine disease
Orphanet:268184	\N	\N	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	Orphanet:268184	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	75459	\N	\N	EFO	0	EFO	Thiamine-responsive maple syrup urine disease	Thiamine-responsive maple syrup urine disease
Orphanet:511	Orphanet:268184	\N	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	Orphanet:268184	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	217992	\N	\N	EFO	1	EFO	Maple syrup urine disease	Thiamine-responsive maple syrup urine disease
Orphanet:79197	Orphanet:511	\N	"" []	Orphanet:268184	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	572895	\N	\N	EFO	2	EFO	Disorder of branched-chain amino acid metabolism	Thiamine-responsive maple syrup urine disease
Orphanet:79062	Orphanet:79197	\N	"" []	Orphanet:268184	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	1155373	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Thiamine-responsive maple syrup urine disease
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:268184	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	2038171	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Thiamine-responsive maple syrup urine disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268184	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	3188481	\N	\N	EFO	5	EFO	genetic disorder	Thiamine-responsive maple syrup urine disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:268184	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	3188482	\N	\N	EFO	5	EFO	metabolic disease	Thiamine-responsive maple syrup urine disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268184	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	4395529	\N	\N	EFO	6	EFO	disease	Thiamine-responsive maple syrup urine disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268184	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	4395530	\N	\N	EFO	6	EFO	disease	Thiamine-responsive maple syrup urine disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268184	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	5413467	\N	\N	EFO	7	EFO	disposition	Thiamine-responsive maple syrup urine disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268184	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	6149995	\N	\N	EFO	8	EFO	material property	Thiamine-responsive maple syrup urine disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268184	"Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." []	6632960	\N	\N	EFO	9	EFO	experimental factor	Thiamine-responsive maple syrup urine disease
Orphanet:268261	\N	\N	"" []	Orphanet:268261	"" []	75460	\N	\N	EFO	0	EFO	21q22.13q22.2 microdeletion syndrome	21q22.13q22.2 microdeletion syndrome
Orphanet:262173	Orphanet:268261	\N	"" []	Orphanet:268261	"" []	217993	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 21	21q22.13q22.2 microdeletion syndrome
Orphanet:98142	Orphanet:262173	\N	"" []	Orphanet:268261	"" []	572896	\N	\N	EFO	2	EFO	Partial autosomal monosomy	21q22.13q22.2 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:268261	"" []	1155374	\N	\N	EFO	3	EFO	Autosomal monosomy	21q22.13q22.2 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:268261	"" []	2038172	\N	\N	EFO	4	EFO	Autosomal anomaly	21q22.13q22.2 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:268261	"" []	3188483	\N	\N	EFO	5	EFO	Chromosomal anomaly	21q22.13q22.2 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268261	"" []	4395531	\N	\N	EFO	6	EFO	genetic disorder	21q22.13q22.2 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268261	"" []	5413468	\N	\N	EFO	7	EFO	disease	21q22.13q22.2 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268261	"" []	6149996	\N	\N	EFO	8	EFO	disposition	21q22.13q22.2 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268261	"" []	6632961	\N	\N	EFO	9	EFO	material property	21q22.13q22.2 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268261	"" []	6925775	\N	\N	EFO	10	EFO	experimental factor	21q22.13q22.2 microdeletion syndrome
Orphanet:268322	\N	\N	"" []	Orphanet:268322	"" []	75461	\N	\N	EFO	0	EFO	Hereditary thrombocytopenia with normal platelets	Hereditary thrombocytopenia with normal platelets
Orphanet:275729	Orphanet:268322	\N	"" []	Orphanet:268322	"" []	217994	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Hereditary thrombocytopenia with normal platelets
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:268322	"" []	572897	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Hereditary thrombocytopenia with normal platelets
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:268322	"" []	1155375	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Hereditary thrombocytopenia with normal platelets
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:268322	"" []	2038173	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hereditary thrombocytopenia with normal platelets
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268322	"" []	3188484	\N	\N	EFO	5	EFO	genetic disorder	Hereditary thrombocytopenia with normal platelets
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:268322	"" []	3188485	\N	\N	EFO	5	EFO	hematological system disease	Hereditary thrombocytopenia with normal platelets
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268322	"" []	4395532	\N	\N	EFO	6	EFO	disease	Hereditary thrombocytopenia with normal platelets
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268322	"" []	4395533	\N	\N	EFO	6	EFO	disease	Hereditary thrombocytopenia with normal platelets
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268322	"" []	5413469	\N	\N	EFO	7	EFO	disposition	Hereditary thrombocytopenia with normal platelets
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268322	"" []	6149997	\N	\N	EFO	8	EFO	material property	Hereditary thrombocytopenia with normal platelets
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268322	"" []	6632962	\N	\N	EFO	9	EFO	experimental factor	Hereditary thrombocytopenia with normal platelets
Orphanet:268337	\N	\N	"" []	Orphanet:268337	"" []	75462	\N	\N	EFO	0	EFO	Autosomal recessive intermediate Charcot-Marie-Tooth disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease
Orphanet:140450	Orphanet:268337	\N	"" []	Orphanet:268337	"" []	217995	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	Autosomal recessive intermediate Charcot-Marie-Tooth disease
Orphanet:166	Orphanet:268337	\N	"" []	Orphanet:268337	"" []	217996	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:268337	"" []	572898	\N	\N	EFO	2	EFO	motor neuron disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:268337	"" []	572899	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal recessive intermediate Charcot-Marie-Tooth disease
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:268337	"" []	572900	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal recessive intermediate Charcot-Marie-Tooth disease
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:268337	"" []	1155376	\N	\N	EFO	3	EFO	neurodegenerative disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:268337	"" []	1155377	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive intermediate Charcot-Marie-Tooth disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:268337	"" []	2038174	\N	\N	EFO	4	EFO	nervous system disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268337	"" []	2038175	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive intermediate Charcot-Marie-Tooth disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268337	"" []	3188486	\N	\N	EFO	5	EFO	disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268337	"" []	3188487	\N	\N	EFO	5	EFO	disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268337	"" []	4395534	\N	\N	EFO	6	EFO	disposition	Autosomal recessive intermediate Charcot-Marie-Tooth disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268337	"" []	5413470	\N	\N	EFO	7	EFO	material property	Autosomal recessive intermediate Charcot-Marie-Tooth disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268337	"" []	6149998	\N	\N	EFO	8	EFO	experimental factor	Autosomal recessive intermediate Charcot-Marie-Tooth disease
Orphanet:268357	\N	\N	"" []	Orphanet:268357	"" []	75463	\N	\N	EFO	0	EFO	Neural tube closure defect	Neural tube closure defect
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268357	"" []	217997	\N	\N	EFO	1	EFO	Neural tube defect	Neural tube closure defect
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268357	"" []	572901	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Neural tube closure defect
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268357	"" []	1155378	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Neural tube closure defect
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268357	"" []	2038176	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Neural tube closure defect
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268357	"" []	2038177	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Neural tube closure defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268357	"" []	3188488	\N	\N	EFO	5	EFO	genetic disorder	Neural tube closure defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268357	"" []	3188489	\N	\N	EFO	5	EFO	genetic disorder	Neural tube closure defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268357	"" []	4395535	\N	\N	EFO	6	EFO	disease	Neural tube closure defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268357	"" []	5413471	\N	\N	EFO	7	EFO	disposition	Neural tube closure defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268357	"" []	6149999	\N	\N	EFO	8	EFO	material property	Neural tube closure defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268357	"" []	6632963	\N	\N	EFO	9	EFO	experimental factor	Neural tube closure defect
Orphanet:268363	\N	\N	"" []	Orphanet:268363	"" []	75464	\N	\N	EFO	0	EFO	Open iniencephaly	Open iniencephaly
Orphanet:63259	Orphanet:268363	\N	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	Orphanet:268363	"" []	217998	\N	\N	EFO	1	EFO	Iniencephaly	Open iniencephaly
Orphanet:268357	Orphanet:63259	\N	"" []	Orphanet:268363	"" []	572902	\N	\N	EFO	2	EFO	Neural tube closure defect	Open iniencephaly
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268363	"" []	1155379	\N	\N	EFO	3	EFO	Neural tube defect	Open iniencephaly
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268363	"" []	2038178	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Open iniencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268363	"" []	3188490	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Open iniencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268363	"" []	4395536	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Open iniencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268363	"" []	4395537	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Open iniencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268363	"" []	5413472	\N	\N	EFO	7	EFO	genetic disorder	Open iniencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268363	"" []	5413473	\N	\N	EFO	7	EFO	genetic disorder	Open iniencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268363	"" []	6150000	\N	\N	EFO	8	EFO	disease	Open iniencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268363	"" []	6632964	\N	\N	EFO	9	EFO	disposition	Open iniencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268363	"" []	6925776	\N	\N	EFO	10	EFO	material property	Open iniencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268363	"" []	7099127	\N	\N	EFO	11	EFO	experimental factor	Open iniencephaly
Orphanet:268366	\N	\N	"" []	Orphanet:268366	"" []	75465	\N	\N	EFO	0	EFO	Closed iniencephaly	Closed iniencephaly
Orphanet:63259	Orphanet:268366	\N	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	Orphanet:268366	"" []	217999	\N	\N	EFO	1	EFO	Iniencephaly	Closed iniencephaly
Orphanet:268357	Orphanet:63259	\N	"" []	Orphanet:268366	"" []	572903	\N	\N	EFO	2	EFO	Neural tube closure defect	Closed iniencephaly
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268366	"" []	1155380	\N	\N	EFO	3	EFO	Neural tube defect	Closed iniencephaly
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268366	"" []	2038179	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Closed iniencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268366	"" []	3188491	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Closed iniencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268366	"" []	4395538	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Closed iniencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268366	"" []	4395539	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Closed iniencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268366	"" []	5413474	\N	\N	EFO	7	EFO	genetic disorder	Closed iniencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268366	"" []	5413475	\N	\N	EFO	7	EFO	genetic disorder	Closed iniencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268366	"" []	6150001	\N	\N	EFO	8	EFO	disease	Closed iniencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268366	"" []	6632965	\N	\N	EFO	9	EFO	disposition	Closed iniencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268366	"" []	6925777	\N	\N	EFO	10	EFO	material property	Closed iniencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268366	"" []	7099128	\N	\N	EFO	11	EFO	experimental factor	Closed iniencephaly
Orphanet:268369	\N	\N	"" []	Orphanet:268369	"" []	75466	\N	\N	EFO	0	EFO	Spina bifida aperta	Spina bifida aperta
Orphanet:823	Orphanet:268369	\N	"" []	Orphanet:268369	"" []	218000	\N	\N	EFO	1	EFO	Isolated spina bifida	Spina bifida aperta
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268369	"" []	572904	\N	\N	EFO	2	EFO	Neural tube closure defect	Spina bifida aperta
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268369	"" []	1155381	\N	\N	EFO	3	EFO	Neural tube defect	Spina bifida aperta
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268369	"" []	2038180	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Spina bifida aperta
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268369	"" []	3188492	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Spina bifida aperta
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268369	"" []	4395540	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Spina bifida aperta
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268369	"" []	4395541	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Spina bifida aperta
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268369	"" []	5413476	\N	\N	EFO	7	EFO	genetic disorder	Spina bifida aperta
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268369	"" []	5413477	\N	\N	EFO	7	EFO	genetic disorder	Spina bifida aperta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268369	"" []	6150002	\N	\N	EFO	8	EFO	disease	Spina bifida aperta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268369	"" []	6632966	\N	\N	EFO	9	EFO	disposition	Spina bifida aperta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268369	"" []	6925778	\N	\N	EFO	10	EFO	material property	Spina bifida aperta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268369	"" []	7099129	\N	\N	EFO	11	EFO	experimental factor	Spina bifida aperta
Orphanet:268377	\N	\N	"" []	Orphanet:268377	"" []	75467	\N	\N	EFO	0	EFO	Total spina bifida aperta	Total spina bifida aperta
Orphanet:268369	Orphanet:268377	\N	"" []	Orphanet:268377	"" []	218001	\N	\N	EFO	1	EFO	Spina bifida aperta	Total spina bifida aperta
Orphanet:823	Orphanet:268369	\N	"" []	Orphanet:268377	"" []	572905	\N	\N	EFO	2	EFO	Isolated spina bifida	Total spina bifida aperta
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268377	"" []	1155382	\N	\N	EFO	3	EFO	Neural tube closure defect	Total spina bifida aperta
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268377	"" []	2038181	\N	\N	EFO	4	EFO	Neural tube defect	Total spina bifida aperta
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268377	"" []	3188493	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Total spina bifida aperta
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268377	"" []	4395542	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Total spina bifida aperta
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268377	"" []	5413478	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Total spina bifida aperta
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268377	"" []	5413479	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Total spina bifida aperta
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268377	"" []	6150003	\N	\N	EFO	8	EFO	genetic disorder	Total spina bifida aperta
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268377	"" []	6150004	\N	\N	EFO	8	EFO	genetic disorder	Total spina bifida aperta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268377	"" []	6632967	\N	\N	EFO	9	EFO	disease	Total spina bifida aperta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268377	"" []	6925779	\N	\N	EFO	10	EFO	disposition	Total spina bifida aperta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268377	"" []	7099130	\N	\N	EFO	11	EFO	material property	Total spina bifida aperta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268377	"" []	7208300	\N	\N	EFO	12	EFO	experimental factor	Total spina bifida aperta
Orphanet:268384	\N	\N	"" []	Orphanet:268384	"" []	75468	\N	\N	EFO	0	EFO	Thoracolumbosacral spina bifida aperta	Thoracolumbosacral spina bifida aperta
Orphanet:268369	Orphanet:268384	\N	"" []	Orphanet:268384	"" []	218002	\N	\N	EFO	1	EFO	Spina bifida aperta	Thoracolumbosacral spina bifida aperta
Orphanet:823	Orphanet:268369	\N	"" []	Orphanet:268384	"" []	572906	\N	\N	EFO	2	EFO	Isolated spina bifida	Thoracolumbosacral spina bifida aperta
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268384	"" []	1155383	\N	\N	EFO	3	EFO	Neural tube closure defect	Thoracolumbosacral spina bifida aperta
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268384	"" []	2038182	\N	\N	EFO	4	EFO	Neural tube defect	Thoracolumbosacral spina bifida aperta
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268384	"" []	3188494	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Thoracolumbosacral spina bifida aperta
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268384	"" []	4395543	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Thoracolumbosacral spina bifida aperta
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268384	"" []	5413480	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Thoracolumbosacral spina bifida aperta
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268384	"" []	5413481	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Thoracolumbosacral spina bifida aperta
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268384	"" []	6150005	\N	\N	EFO	8	EFO	genetic disorder	Thoracolumbosacral spina bifida aperta
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268384	"" []	6150006	\N	\N	EFO	8	EFO	genetic disorder	Thoracolumbosacral spina bifida aperta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268384	"" []	6632968	\N	\N	EFO	9	EFO	disease	Thoracolumbosacral spina bifida aperta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268384	"" []	6925780	\N	\N	EFO	10	EFO	disposition	Thoracolumbosacral spina bifida aperta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268384	"" []	7099131	\N	\N	EFO	11	EFO	material property	Thoracolumbosacral spina bifida aperta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268384	"" []	7208301	\N	\N	EFO	12	EFO	experimental factor	Thoracolumbosacral spina bifida aperta
Orphanet:268388	\N	\N	"" []	Orphanet:268388	"" []	75469	\N	\N	EFO	0	EFO	Lumbosacral spina bifida aperta	Lumbosacral spina bifida aperta
Orphanet:268369	Orphanet:268388	\N	"" []	Orphanet:268388	"" []	218003	\N	\N	EFO	1	EFO	Spina bifida aperta	Lumbosacral spina bifida aperta
Orphanet:823	Orphanet:268369	\N	"" []	Orphanet:268388	"" []	572907	\N	\N	EFO	2	EFO	Isolated spina bifida	Lumbosacral spina bifida aperta
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268388	"" []	1155384	\N	\N	EFO	3	EFO	Neural tube closure defect	Lumbosacral spina bifida aperta
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268388	"" []	2038183	\N	\N	EFO	4	EFO	Neural tube defect	Lumbosacral spina bifida aperta
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268388	"" []	3188495	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Lumbosacral spina bifida aperta
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268388	"" []	4395544	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Lumbosacral spina bifida aperta
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268388	"" []	5413482	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Lumbosacral spina bifida aperta
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268388	"" []	5413483	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Lumbosacral spina bifida aperta
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268388	"" []	6150007	\N	\N	EFO	8	EFO	genetic disorder	Lumbosacral spina bifida aperta
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268388	"" []	6150008	\N	\N	EFO	8	EFO	genetic disorder	Lumbosacral spina bifida aperta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268388	"" []	6632969	\N	\N	EFO	9	EFO	disease	Lumbosacral spina bifida aperta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268388	"" []	6925781	\N	\N	EFO	10	EFO	disposition	Lumbosacral spina bifida aperta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268388	"" []	7099132	\N	\N	EFO	11	EFO	material property	Lumbosacral spina bifida aperta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268388	"" []	7208302	\N	\N	EFO	12	EFO	experimental factor	Lumbosacral spina bifida aperta
Orphanet:268392	\N	\N	"" []	Orphanet:268392	"" []	75470	\N	\N	EFO	0	EFO	Cervical spina bifida aperta	Cervical spina bifida aperta
Orphanet:268369	Orphanet:268392	\N	"" []	Orphanet:268392	"" []	218004	\N	\N	EFO	1	EFO	Spina bifida aperta	Cervical spina bifida aperta
Orphanet:823	Orphanet:268369	\N	"" []	Orphanet:268392	"" []	572908	\N	\N	EFO	2	EFO	Isolated spina bifida	Cervical spina bifida aperta
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268392	"" []	1155385	\N	\N	EFO	3	EFO	Neural tube closure defect	Cervical spina bifida aperta
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268392	"" []	2038184	\N	\N	EFO	4	EFO	Neural tube defect	Cervical spina bifida aperta
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268392	"" []	3188496	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Cervical spina bifida aperta
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268392	"" []	4395545	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Cervical spina bifida aperta
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268392	"" []	5413484	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Cervical spina bifida aperta
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268392	"" []	5413485	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Cervical spina bifida aperta
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268392	"" []	6150009	\N	\N	EFO	8	EFO	genetic disorder	Cervical spina bifida aperta
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268392	"" []	6150010	\N	\N	EFO	8	EFO	genetic disorder	Cervical spina bifida aperta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268392	"" []	6632970	\N	\N	EFO	9	EFO	disease	Cervical spina bifida aperta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268392	"" []	6925782	\N	\N	EFO	10	EFO	disposition	Cervical spina bifida aperta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268392	"" []	7099133	\N	\N	EFO	11	EFO	material property	Cervical spina bifida aperta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268392	"" []	7208303	\N	\N	EFO	12	EFO	experimental factor	Cervical spina bifida aperta
Orphanet:268397	\N	\N	"" []	Orphanet:268397	"" []	75471	\N	\N	EFO	0	EFO	Cervicothoracic spina bifida aperta	Cervicothoracic spina bifida aperta
Orphanet:268369	Orphanet:268397	\N	"" []	Orphanet:268397	"" []	218005	\N	\N	EFO	1	EFO	Spina bifida aperta	Cervicothoracic spina bifida aperta
Orphanet:823	Orphanet:268369	\N	"" []	Orphanet:268397	"" []	572909	\N	\N	EFO	2	EFO	Isolated spina bifida	Cervicothoracic spina bifida aperta
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268397	"" []	1155386	\N	\N	EFO	3	EFO	Neural tube closure defect	Cervicothoracic spina bifida aperta
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268397	"" []	2038185	\N	\N	EFO	4	EFO	Neural tube defect	Cervicothoracic spina bifida aperta
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268397	"" []	3188497	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Cervicothoracic spina bifida aperta
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268397	"" []	4395546	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Cervicothoracic spina bifida aperta
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268397	"" []	5413486	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Cervicothoracic spina bifida aperta
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268397	"" []	5413487	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Cervicothoracic spina bifida aperta
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268397	"" []	6150011	\N	\N	EFO	8	EFO	genetic disorder	Cervicothoracic spina bifida aperta
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268397	"" []	6150012	\N	\N	EFO	8	EFO	genetic disorder	Cervicothoracic spina bifida aperta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268397	"" []	6632971	\N	\N	EFO	9	EFO	disease	Cervicothoracic spina bifida aperta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268397	"" []	6925783	\N	\N	EFO	10	EFO	disposition	Cervicothoracic spina bifida aperta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268397	"" []	7099134	\N	\N	EFO	11	EFO	material property	Cervicothoracic spina bifida aperta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268397	"" []	7208304	\N	\N	EFO	12	EFO	experimental factor	Cervicothoracic spina bifida aperta
Orphanet:2686	\N	\N	"" []	Orphanet:2686	"" []	75472	\N	\N	EFO	0	EFO	Cyclic neutropenia	Cyclic neutropenia
Orphanet:101987	Orphanet:2686	\N	"" []	Orphanet:2686	"" []	218006	\N	\N	EFO	1	EFO	Constitutional neutropenia	Cyclic neutropenia
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:2686	"" []	572910	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Cyclic neutropenia
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:2686	"" []	1155387	\N	\N	EFO	3	EFO	Primary immunodeficiency	Cyclic neutropenia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:2686	"" []	2038186	\N	\N	EFO	4	EFO	Rare genetic immune disease	Cyclic neutropenia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2686	"" []	3188498	\N	\N	EFO	5	EFO	genetic disorder	Cyclic neutropenia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:2686	"" []	3188499	\N	\N	EFO	5	EFO	immune system disease	Cyclic neutropenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2686	"" []	4395547	\N	\N	EFO	6	EFO	disease	Cyclic neutropenia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2686	"" []	4395548	\N	\N	EFO	6	EFO	disease	Cyclic neutropenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2686	"" []	5413488	\N	\N	EFO	7	EFO	disposition	Cyclic neutropenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2686	"" []	6150013	\N	\N	EFO	8	EFO	material property	Cyclic neutropenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2686	"" []	6632972	\N	\N	EFO	9	EFO	experimental factor	Cyclic neutropenia
Orphanet:268740	\N	\N	"" []	Orphanet:268740	"" []	75473	\N	\N	EFO	0	EFO	Upper thoracic spina bifida aperta	Upper thoracic spina bifida aperta
Orphanet:268369	Orphanet:268740	\N	"" []	Orphanet:268740	"" []	218007	\N	\N	EFO	1	EFO	Spina bifida aperta	Upper thoracic spina bifida aperta
Orphanet:823	Orphanet:268369	\N	"" []	Orphanet:268740	"" []	572911	\N	\N	EFO	2	EFO	Isolated spina bifida	Upper thoracic spina bifida aperta
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268740	"" []	1155388	\N	\N	EFO	3	EFO	Neural tube closure defect	Upper thoracic spina bifida aperta
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268740	"" []	2038187	\N	\N	EFO	4	EFO	Neural tube defect	Upper thoracic spina bifida aperta
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268740	"" []	3188500	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Upper thoracic spina bifida aperta
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268740	"" []	4395549	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Upper thoracic spina bifida aperta
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268740	"" []	5413489	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Upper thoracic spina bifida aperta
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268740	"" []	5413490	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Upper thoracic spina bifida aperta
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268740	"" []	6150014	\N	\N	EFO	8	EFO	genetic disorder	Upper thoracic spina bifida aperta
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268740	"" []	6150015	\N	\N	EFO	8	EFO	genetic disorder	Upper thoracic spina bifida aperta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268740	"" []	6632973	\N	\N	EFO	9	EFO	disease	Upper thoracic spina bifida aperta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268740	"" []	6925784	\N	\N	EFO	10	EFO	disposition	Upper thoracic spina bifida aperta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268740	"" []	7099135	\N	\N	EFO	11	EFO	material property	Upper thoracic spina bifida aperta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268740	"" []	7208305	\N	\N	EFO	12	EFO	experimental factor	Upper thoracic spina bifida aperta
Orphanet:268744	\N	\N	"" []	Orphanet:268744	"" []	75474	\N	\N	EFO	0	EFO	Spina bifida cystica	Spina bifida cystica
Orphanet:823	Orphanet:268744	\N	"" []	Orphanet:268744	"" []	218008	\N	\N	EFO	1	EFO	Isolated spina bifida	Spina bifida cystica
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268744	"" []	572912	\N	\N	EFO	2	EFO	Neural tube closure defect	Spina bifida cystica
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268744	"" []	1155389	\N	\N	EFO	3	EFO	Neural tube defect	Spina bifida cystica
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268744	"" []	2038188	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Spina bifida cystica
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268744	"" []	3188501	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Spina bifida cystica
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268744	"" []	4395550	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Spina bifida cystica
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268744	"" []	4395551	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Spina bifida cystica
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268744	"" []	5413491	\N	\N	EFO	7	EFO	genetic disorder	Spina bifida cystica
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268744	"" []	5413492	\N	\N	EFO	7	EFO	genetic disorder	Spina bifida cystica
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268744	"" []	6150016	\N	\N	EFO	8	EFO	disease	Spina bifida cystica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268744	"" []	6632974	\N	\N	EFO	9	EFO	disposition	Spina bifida cystica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268744	"" []	6925785	\N	\N	EFO	10	EFO	material property	Spina bifida cystica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268744	"" []	7099136	\N	\N	EFO	11	EFO	experimental factor	Spina bifida cystica
Orphanet:268748	\N	\N	"" []	Orphanet:268748	"" []	75475	\N	\N	EFO	0	EFO	Total spina bifida cystica	Total spina bifida cystica
Orphanet:93969	Orphanet:268748	\N	"" []	Orphanet:268748	"" []	218009	\N	\N	EFO	1	EFO	Myelomeningocele	Total spina bifida cystica
Orphanet:268744	Orphanet:93969	\N	"" []	Orphanet:268748	"" []	572913	\N	\N	EFO	2	EFO	Spina bifida cystica	Total spina bifida cystica
Orphanet:823	Orphanet:268744	\N	"" []	Orphanet:268748	"" []	1155390	\N	\N	EFO	3	EFO	Isolated spina bifida	Total spina bifida cystica
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268748	"" []	2038189	\N	\N	EFO	4	EFO	Neural tube closure defect	Total spina bifida cystica
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268748	"" []	3188502	\N	\N	EFO	5	EFO	Neural tube defect	Total spina bifida cystica
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268748	"" []	4395552	\N	\N	EFO	6	EFO	Genetic non-syndromic central nervous system malformation	Total spina bifida cystica
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268748	"" []	5413493	\N	\N	EFO	7	EFO	Genetic central nervous system malformation	Total spina bifida cystica
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268748	"" []	6150017	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Total spina bifida cystica
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268748	"" []	6150018	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Total spina bifida cystica
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268748	"" []	6632975	\N	\N	EFO	9	EFO	genetic disorder	Total spina bifida cystica
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268748	"" []	6632976	\N	\N	EFO	9	EFO	genetic disorder	Total spina bifida cystica
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268748	"" []	6925786	\N	\N	EFO	10	EFO	disease	Total spina bifida cystica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268748	"" []	7099137	\N	\N	EFO	11	EFO	disposition	Total spina bifida cystica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268748	"" []	7208306	\N	\N	EFO	12	EFO	material property	Total spina bifida cystica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268748	"" []	7287301	\N	\N	EFO	13	EFO	experimental factor	Total spina bifida cystica
Orphanet:268752	\N	\N	"" []	Orphanet:268752	"" []	75476	\N	\N	EFO	0	EFO	Thoracolumbosacral spina bifida cystica	Thoracolumbosacral spina bifida cystica
Orphanet:93969	Orphanet:268752	\N	"" []	Orphanet:268752	"" []	218010	\N	\N	EFO	1	EFO	Myelomeningocele	Thoracolumbosacral spina bifida cystica
Orphanet:268744	Orphanet:93969	\N	"" []	Orphanet:268752	"" []	572914	\N	\N	EFO	2	EFO	Spina bifida cystica	Thoracolumbosacral spina bifida cystica
Orphanet:823	Orphanet:268744	\N	"" []	Orphanet:268752	"" []	1155391	\N	\N	EFO	3	EFO	Isolated spina bifida	Thoracolumbosacral spina bifida cystica
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268752	"" []	2038190	\N	\N	EFO	4	EFO	Neural tube closure defect	Thoracolumbosacral spina bifida cystica
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268752	"" []	3188503	\N	\N	EFO	5	EFO	Neural tube defect	Thoracolumbosacral spina bifida cystica
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268752	"" []	4395553	\N	\N	EFO	6	EFO	Genetic non-syndromic central nervous system malformation	Thoracolumbosacral spina bifida cystica
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268752	"" []	5413494	\N	\N	EFO	7	EFO	Genetic central nervous system malformation	Thoracolumbosacral spina bifida cystica
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268752	"" []	6150019	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Thoracolumbosacral spina bifida cystica
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268752	"" []	6150020	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Thoracolumbosacral spina bifida cystica
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268752	"" []	6632977	\N	\N	EFO	9	EFO	genetic disorder	Thoracolumbosacral spina bifida cystica
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268752	"" []	6632978	\N	\N	EFO	9	EFO	genetic disorder	Thoracolumbosacral spina bifida cystica
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268752	"" []	6925787	\N	\N	EFO	10	EFO	disease	Thoracolumbosacral spina bifida cystica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268752	"" []	7099138	\N	\N	EFO	11	EFO	disposition	Thoracolumbosacral spina bifida cystica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268752	"" []	7208307	\N	\N	EFO	12	EFO	material property	Thoracolumbosacral spina bifida cystica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268752	"" []	7287302	\N	\N	EFO	13	EFO	experimental factor	Thoracolumbosacral spina bifida cystica
Orphanet:268758	\N	\N	"" []	Orphanet:268758	"" []	75477	\N	\N	EFO	0	EFO	Lumbosacral spina bifida cystica	Lumbosacral spina bifida cystica
Orphanet:93969	Orphanet:268758	\N	"" []	Orphanet:268758	"" []	218011	\N	\N	EFO	1	EFO	Myelomeningocele	Lumbosacral spina bifida cystica
Orphanet:268744	Orphanet:93969	\N	"" []	Orphanet:268758	"" []	572915	\N	\N	EFO	2	EFO	Spina bifida cystica	Lumbosacral spina bifida cystica
Orphanet:823	Orphanet:268744	\N	"" []	Orphanet:268758	"" []	1155392	\N	\N	EFO	3	EFO	Isolated spina bifida	Lumbosacral spina bifida cystica
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268758	"" []	2038191	\N	\N	EFO	4	EFO	Neural tube closure defect	Lumbosacral spina bifida cystica
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268758	"" []	3188504	\N	\N	EFO	5	EFO	Neural tube defect	Lumbosacral spina bifida cystica
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268758	"" []	4395554	\N	\N	EFO	6	EFO	Genetic non-syndromic central nervous system malformation	Lumbosacral spina bifida cystica
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268758	"" []	5413495	\N	\N	EFO	7	EFO	Genetic central nervous system malformation	Lumbosacral spina bifida cystica
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268758	"" []	6150021	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Lumbosacral spina bifida cystica
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268758	"" []	6150022	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Lumbosacral spina bifida cystica
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268758	"" []	6632979	\N	\N	EFO	9	EFO	genetic disorder	Lumbosacral spina bifida cystica
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268758	"" []	6632980	\N	\N	EFO	9	EFO	genetic disorder	Lumbosacral spina bifida cystica
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268758	"" []	6925788	\N	\N	EFO	10	EFO	disease	Lumbosacral spina bifida cystica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268758	"" []	7099139	\N	\N	EFO	11	EFO	disposition	Lumbosacral spina bifida cystica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268758	"" []	7208308	\N	\N	EFO	12	EFO	material property	Lumbosacral spina bifida cystica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268758	"" []	7287303	\N	\N	EFO	13	EFO	experimental factor	Lumbosacral spina bifida cystica
Orphanet:268762	\N	\N	"" []	Orphanet:268762	"" []	75478	\N	\N	EFO	0	EFO	Cervical spina bifida cystica	Cervical spina bifida cystica
Orphanet:93969	Orphanet:268762	\N	"" []	Orphanet:268762	"" []	218012	\N	\N	EFO	1	EFO	Myelomeningocele	Cervical spina bifida cystica
Orphanet:268744	Orphanet:93969	\N	"" []	Orphanet:268762	"" []	572916	\N	\N	EFO	2	EFO	Spina bifida cystica	Cervical spina bifida cystica
Orphanet:823	Orphanet:268744	\N	"" []	Orphanet:268762	"" []	1155393	\N	\N	EFO	3	EFO	Isolated spina bifida	Cervical spina bifida cystica
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268762	"" []	2038192	\N	\N	EFO	4	EFO	Neural tube closure defect	Cervical spina bifida cystica
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268762	"" []	3188505	\N	\N	EFO	5	EFO	Neural tube defect	Cervical spina bifida cystica
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268762	"" []	4395555	\N	\N	EFO	6	EFO	Genetic non-syndromic central nervous system malformation	Cervical spina bifida cystica
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268762	"" []	5413496	\N	\N	EFO	7	EFO	Genetic central nervous system malformation	Cervical spina bifida cystica
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268762	"" []	6150023	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Cervical spina bifida cystica
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268762	"" []	6150024	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Cervical spina bifida cystica
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268762	"" []	6632981	\N	\N	EFO	9	EFO	genetic disorder	Cervical spina bifida cystica
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268762	"" []	6632982	\N	\N	EFO	9	EFO	genetic disorder	Cervical spina bifida cystica
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268762	"" []	6925789	\N	\N	EFO	10	EFO	disease	Cervical spina bifida cystica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268762	"" []	7099140	\N	\N	EFO	11	EFO	disposition	Cervical spina bifida cystica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268762	"" []	7208309	\N	\N	EFO	12	EFO	material property	Cervical spina bifida cystica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268762	"" []	7287304	\N	\N	EFO	13	EFO	experimental factor	Cervical spina bifida cystica
Orphanet:268766	\N	\N	"" []	Orphanet:268766	"" []	75479	\N	\N	EFO	0	EFO	Cervicothoracic spina bifida cystica	Cervicothoracic spina bifida cystica
Orphanet:93969	Orphanet:268766	\N	"" []	Orphanet:268766	"" []	218013	\N	\N	EFO	1	EFO	Myelomeningocele	Cervicothoracic spina bifida cystica
Orphanet:268744	Orphanet:93969	\N	"" []	Orphanet:268766	"" []	572917	\N	\N	EFO	2	EFO	Spina bifida cystica	Cervicothoracic spina bifida cystica
Orphanet:823	Orphanet:268744	\N	"" []	Orphanet:268766	"" []	1155394	\N	\N	EFO	3	EFO	Isolated spina bifida	Cervicothoracic spina bifida cystica
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268766	"" []	2038193	\N	\N	EFO	4	EFO	Neural tube closure defect	Cervicothoracic spina bifida cystica
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268766	"" []	3188506	\N	\N	EFO	5	EFO	Neural tube defect	Cervicothoracic spina bifida cystica
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268766	"" []	4395556	\N	\N	EFO	6	EFO	Genetic non-syndromic central nervous system malformation	Cervicothoracic spina bifida cystica
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268766	"" []	5413497	\N	\N	EFO	7	EFO	Genetic central nervous system malformation	Cervicothoracic spina bifida cystica
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268766	"" []	6150025	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Cervicothoracic spina bifida cystica
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268766	"" []	6150026	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Cervicothoracic spina bifida cystica
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268766	"" []	6632983	\N	\N	EFO	9	EFO	genetic disorder	Cervicothoracic spina bifida cystica
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268766	"" []	6632984	\N	\N	EFO	9	EFO	genetic disorder	Cervicothoracic spina bifida cystica
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268766	"" []	6925790	\N	\N	EFO	10	EFO	disease	Cervicothoracic spina bifida cystica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268766	"" []	7099141	\N	\N	EFO	11	EFO	disposition	Cervicothoracic spina bifida cystica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268766	"" []	7208310	\N	\N	EFO	12	EFO	material property	Cervicothoracic spina bifida cystica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268766	"" []	7287305	\N	\N	EFO	13	EFO	experimental factor	Cervicothoracic spina bifida cystica
Orphanet:268770	\N	\N	"" []	Orphanet:268770	"" []	75480	\N	\N	EFO	0	EFO	Upper thoracic spina bifida cystica	Upper thoracic spina bifida cystica
Orphanet:93969	Orphanet:268770	\N	"" []	Orphanet:268770	"" []	218014	\N	\N	EFO	1	EFO	Myelomeningocele	Upper thoracic spina bifida cystica
Orphanet:268744	Orphanet:93969	\N	"" []	Orphanet:268770	"" []	572918	\N	\N	EFO	2	EFO	Spina bifida cystica	Upper thoracic spina bifida cystica
Orphanet:823	Orphanet:268744	\N	"" []	Orphanet:268770	"" []	1155395	\N	\N	EFO	3	EFO	Isolated spina bifida	Upper thoracic spina bifida cystica
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268770	"" []	2038194	\N	\N	EFO	4	EFO	Neural tube closure defect	Upper thoracic spina bifida cystica
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268770	"" []	3188507	\N	\N	EFO	5	EFO	Neural tube defect	Upper thoracic spina bifida cystica
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268770	"" []	4395557	\N	\N	EFO	6	EFO	Genetic non-syndromic central nervous system malformation	Upper thoracic spina bifida cystica
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268770	"" []	5413498	\N	\N	EFO	7	EFO	Genetic central nervous system malformation	Upper thoracic spina bifida cystica
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268770	"" []	6150027	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Upper thoracic spina bifida cystica
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268770	"" []	6150028	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Upper thoracic spina bifida cystica
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268770	"" []	6632985	\N	\N	EFO	9	EFO	genetic disorder	Upper thoracic spina bifida cystica
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268770	"" []	6632986	\N	\N	EFO	9	EFO	genetic disorder	Upper thoracic spina bifida cystica
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268770	"" []	6925791	\N	\N	EFO	10	EFO	disease	Upper thoracic spina bifida cystica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268770	"" []	7099142	\N	\N	EFO	11	EFO	disposition	Upper thoracic spina bifida cystica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268770	"" []	7208311	\N	\N	EFO	12	EFO	material property	Upper thoracic spina bifida cystica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268770	"" []	7287306	\N	\N	EFO	13	EFO	experimental factor	Upper thoracic spina bifida cystica
Orphanet:268810	\N	\N	"" []	Orphanet:268810	"" []	75481	\N	\N	EFO	0	EFO	Posterior meningocele	Posterior meningocele
Orphanet:268744	Orphanet:268810	\N	"" []	Orphanet:268810	"" []	218015	\N	\N	EFO	1	EFO	Spina bifida cystica	Posterior meningocele
Orphanet:823	Orphanet:268744	\N	"" []	Orphanet:268810	"" []	572919	\N	\N	EFO	2	EFO	Isolated spina bifida	Posterior meningocele
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268810	"" []	1155396	\N	\N	EFO	3	EFO	Neural tube closure defect	Posterior meningocele
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268810	"" []	2038195	\N	\N	EFO	4	EFO	Neural tube defect	Posterior meningocele
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268810	"" []	3188508	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Posterior meningocele
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268810	"" []	4395558	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Posterior meningocele
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268810	"" []	5413499	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Posterior meningocele
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268810	"" []	5413500	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Posterior meningocele
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268810	"" []	6150029	\N	\N	EFO	8	EFO	genetic disorder	Posterior meningocele
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268810	"" []	6150030	\N	\N	EFO	8	EFO	genetic disorder	Posterior meningocele
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268810	"" []	6632987	\N	\N	EFO	9	EFO	disease	Posterior meningocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268810	"" []	6925792	\N	\N	EFO	10	EFO	disposition	Posterior meningocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268810	"" []	7099143	\N	\N	EFO	11	EFO	material property	Posterior meningocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268810	"" []	7208312	\N	\N	EFO	12	EFO	experimental factor	Posterior meningocele
Orphanet:268813	\N	\N	"" []	Orphanet:268813	"" []	75482	\N	\N	EFO	0	EFO	Myelocystocele	Myelocystocele
Orphanet:268744	Orphanet:268813	\N	"" []	Orphanet:268813	"" []	218016	\N	\N	EFO	1	EFO	Spina bifida cystica	Myelocystocele
Orphanet:823	Orphanet:268744	\N	"" []	Orphanet:268813	"" []	572920	\N	\N	EFO	2	EFO	Isolated spina bifida	Myelocystocele
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:268813	"" []	1155397	\N	\N	EFO	3	EFO	Neural tube closure defect	Myelocystocele
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268813	"" []	2038196	\N	\N	EFO	4	EFO	Neural tube defect	Myelocystocele
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268813	"" []	3188509	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Myelocystocele
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268813	"" []	4395559	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Myelocystocele
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268813	"" []	5413501	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Myelocystocele
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268813	"" []	5413502	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Myelocystocele
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268813	"" []	6150031	\N	\N	EFO	8	EFO	genetic disorder	Myelocystocele
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268813	"" []	6150032	\N	\N	EFO	8	EFO	genetic disorder	Myelocystocele
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268813	"" []	6632988	\N	\N	EFO	9	EFO	disease	Myelocystocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268813	"" []	6925793	\N	\N	EFO	10	EFO	disposition	Myelocystocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268813	"" []	7099144	\N	\N	EFO	11	EFO	material property	Myelocystocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268813	"" []	7208313	\N	\N	EFO	12	EFO	experimental factor	Myelocystocele
Orphanet:268817	\N	\N	"" []	Orphanet:268817	"" []	75483	\N	\N	EFO	0	EFO	Cephalocele	Cephalocele
Orphanet:268357	Orphanet:268817	\N	"" []	Orphanet:268817	"" []	218017	\N	\N	EFO	1	EFO	Neural tube closure defect	Cephalocele
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268817	"" []	572921	\N	\N	EFO	2	EFO	Neural tube defect	Cephalocele
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268817	"" []	1155398	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Cephalocele
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268817	"" []	2038197	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Cephalocele
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268817	"" []	3188510	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cephalocele
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268817	"" []	3188511	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Cephalocele
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268817	"" []	4395560	\N	\N	EFO	6	EFO	genetic disorder	Cephalocele
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268817	"" []	4395561	\N	\N	EFO	6	EFO	genetic disorder	Cephalocele
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268817	"" []	5413503	\N	\N	EFO	7	EFO	disease	Cephalocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268817	"" []	6150033	\N	\N	EFO	8	EFO	disposition	Cephalocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268817	"" []	6632989	\N	\N	EFO	9	EFO	material property	Cephalocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268817	"" []	6925794	\N	\N	EFO	10	EFO	experimental factor	Cephalocele
Orphanet:268820	\N	\N	"" []	Orphanet:268820	"" []	75484	\N	\N	EFO	0	EFO	Cranial meningocele	Cranial meningocele
Orphanet:268817	Orphanet:268820	\N	"" []	Orphanet:268820	"" []	218018	\N	\N	EFO	1	EFO	Cephalocele	Cranial meningocele
Orphanet:268357	Orphanet:268817	\N	"" []	Orphanet:268820	"" []	572922	\N	\N	EFO	2	EFO	Neural tube closure defect	Cranial meningocele
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268820	"" []	1155399	\N	\N	EFO	3	EFO	Neural tube defect	Cranial meningocele
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268820	"" []	2038198	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Cranial meningocele
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268820	"" []	3188512	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Cranial meningocele
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268820	"" []	4395562	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Cranial meningocele
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268820	"" []	4395563	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Cranial meningocele
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268820	"" []	5413504	\N	\N	EFO	7	EFO	genetic disorder	Cranial meningocele
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268820	"" []	5413505	\N	\N	EFO	7	EFO	genetic disorder	Cranial meningocele
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268820	"" []	6150034	\N	\N	EFO	8	EFO	disease	Cranial meningocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268820	"" []	6632990	\N	\N	EFO	9	EFO	disposition	Cranial meningocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268820	"" []	6925795	\N	\N	EFO	10	EFO	material property	Cranial meningocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268820	"" []	7099145	\N	\N	EFO	11	EFO	experimental factor	Cranial meningocele
Orphanet:268823	\N	\N	"" []	Orphanet:268823	"" []	75485	\N	\N	EFO	0	EFO	Occipital encephalocele	Occipital encephalocele
Orphanet:199647	Orphanet:268823	\N	"" []	Orphanet:268823	"" []	218019	\N	\N	EFO	1	EFO	Isolated encephalocele	Occipital encephalocele
Orphanet:268817	Orphanet:199647	\N	"" []	Orphanet:268823	"" []	572923	\N	\N	EFO	2	EFO	Cephalocele	Occipital encephalocele
Orphanet:268357	Orphanet:268817	\N	"" []	Orphanet:268823	"" []	1155400	\N	\N	EFO	3	EFO	Neural tube closure defect	Occipital encephalocele
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268823	"" []	2038199	\N	\N	EFO	4	EFO	Neural tube defect	Occipital encephalocele
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268823	"" []	3188513	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Occipital encephalocele
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268823	"" []	4395564	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Occipital encephalocele
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268823	"" []	5413506	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Occipital encephalocele
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268823	"" []	5413507	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Occipital encephalocele
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268823	"" []	6150035	\N	\N	EFO	8	EFO	genetic disorder	Occipital encephalocele
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268823	"" []	6150036	\N	\N	EFO	8	EFO	genetic disorder	Occipital encephalocele
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268823	"" []	6632991	\N	\N	EFO	9	EFO	disease	Occipital encephalocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268823	"" []	6925796	\N	\N	EFO	10	EFO	disposition	Occipital encephalocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268823	"" []	7099146	\N	\N	EFO	11	EFO	material property	Occipital encephalocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268823	"" []	7208314	\N	\N	EFO	12	EFO	experimental factor	Occipital encephalocele
Orphanet:268826	\N	\N	"" []	Orphanet:268826	"" []	75486	\N	\N	EFO	0	EFO	Parietal encephalocele	Parietal encephalocele
Orphanet:199647	Orphanet:268826	\N	"" []	Orphanet:268826	"" []	218020	\N	\N	EFO	1	EFO	Isolated encephalocele	Parietal encephalocele
Orphanet:268817	Orphanet:199647	\N	"" []	Orphanet:268826	"" []	572924	\N	\N	EFO	2	EFO	Cephalocele	Parietal encephalocele
Orphanet:268357	Orphanet:268817	\N	"" []	Orphanet:268826	"" []	1155401	\N	\N	EFO	3	EFO	Neural tube closure defect	Parietal encephalocele
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268826	"" []	2038200	\N	\N	EFO	4	EFO	Neural tube defect	Parietal encephalocele
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268826	"" []	3188514	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Parietal encephalocele
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268826	"" []	4395565	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Parietal encephalocele
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268826	"" []	5413508	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Parietal encephalocele
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268826	"" []	5413509	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Parietal encephalocele
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268826	"" []	6150037	\N	\N	EFO	8	EFO	genetic disorder	Parietal encephalocele
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268826	"" []	6150038	\N	\N	EFO	8	EFO	genetic disorder	Parietal encephalocele
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268826	"" []	6632992	\N	\N	EFO	9	EFO	disease	Parietal encephalocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268826	"" []	6925797	\N	\N	EFO	10	EFO	disposition	Parietal encephalocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268826	"" []	7099147	\N	\N	EFO	11	EFO	material property	Parietal encephalocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268826	"" []	7208315	\N	\N	EFO	12	EFO	experimental factor	Parietal encephalocele
Orphanet:268829	\N	\N	"" []	Orphanet:268829	"" []	75487	\N	\N	EFO	0	EFO	Basal encephalocele	Basal encephalocele
Orphanet:199647	Orphanet:268829	\N	"" []	Orphanet:268829	"" []	218021	\N	\N	EFO	1	EFO	Isolated encephalocele	Basal encephalocele
Orphanet:268817	Orphanet:199647	\N	"" []	Orphanet:268829	"" []	572925	\N	\N	EFO	2	EFO	Cephalocele	Basal encephalocele
Orphanet:268357	Orphanet:268817	\N	"" []	Orphanet:268829	"" []	1155402	\N	\N	EFO	3	EFO	Neural tube closure defect	Basal encephalocele
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268829	"" []	2038201	\N	\N	EFO	4	EFO	Neural tube defect	Basal encephalocele
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268829	"" []	3188515	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Basal encephalocele
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268829	"" []	4395566	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Basal encephalocele
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268829	"" []	5413510	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Basal encephalocele
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268829	"" []	5413511	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Basal encephalocele
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268829	"" []	6150039	\N	\N	EFO	8	EFO	genetic disorder	Basal encephalocele
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268829	"" []	6150040	\N	\N	EFO	8	EFO	genetic disorder	Basal encephalocele
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268829	"" []	6632993	\N	\N	EFO	9	EFO	disease	Basal encephalocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268829	"" []	6925798	\N	\N	EFO	10	EFO	disposition	Basal encephalocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268829	"" []	7099148	\N	\N	EFO	11	EFO	material property	Basal encephalocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268829	"" []	7208316	\N	\N	EFO	12	EFO	experimental factor	Basal encephalocele
Orphanet:268832	\N	\N	"" []	Orphanet:268832	"" []	75488	\N	\N	EFO	0	EFO	Lipoma associated with neurospinal dysraphism	Lipoma associated with neurospinal dysraphism
Orphanet:268357	Orphanet:268832	\N	"" []	Orphanet:268832	"" []	218022	\N	\N	EFO	1	EFO	Neural tube closure defect	Lipoma associated with neurospinal dysraphism
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268832	"" []	572926	\N	\N	EFO	2	EFO	Neural tube defect	Lipoma associated with neurospinal dysraphism
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268832	"" []	1155403	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Lipoma associated with neurospinal dysraphism
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268832	"" []	2038202	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lipoma associated with neurospinal dysraphism
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268832	"" []	3188516	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lipoma associated with neurospinal dysraphism
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268832	"" []	3188517	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lipoma associated with neurospinal dysraphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268832	"" []	4395567	\N	\N	EFO	6	EFO	genetic disorder	Lipoma associated with neurospinal dysraphism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268832	"" []	4395568	\N	\N	EFO	6	EFO	genetic disorder	Lipoma associated with neurospinal dysraphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268832	"" []	5413512	\N	\N	EFO	7	EFO	disease	Lipoma associated with neurospinal dysraphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268832	"" []	6150041	\N	\N	EFO	8	EFO	disposition	Lipoma associated with neurospinal dysraphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268832	"" []	6632994	\N	\N	EFO	9	EFO	material property	Lipoma associated with neurospinal dysraphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268832	"" []	6925799	\N	\N	EFO	10	EFO	experimental factor	Lipoma associated with neurospinal dysraphism
Orphanet:268835	\N	\N	"" []	Orphanet:268835	"" []	75489	\N	\N	EFO	0	EFO	Lipomyelomeningocele	Lipomyelomeningocele
Orphanet:268832	Orphanet:268835	\N	"" []	Orphanet:268835	"" []	218023	\N	\N	EFO	1	EFO	Lipoma associated with neurospinal dysraphism	Lipomyelomeningocele
Orphanet:268357	Orphanet:268832	\N	"" []	Orphanet:268835	"" []	572927	\N	\N	EFO	2	EFO	Neural tube closure defect	Lipomyelomeningocele
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268835	"" []	1155404	\N	\N	EFO	3	EFO	Neural tube defect	Lipomyelomeningocele
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268835	"" []	2038203	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Lipomyelomeningocele
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268835	"" []	3188518	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Lipomyelomeningocele
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268835	"" []	4395569	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Lipomyelomeningocele
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268835	"" []	4395570	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Lipomyelomeningocele
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268835	"" []	5413513	\N	\N	EFO	7	EFO	genetic disorder	Lipomyelomeningocele
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268835	"" []	5413514	\N	\N	EFO	7	EFO	genetic disorder	Lipomyelomeningocele
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268835	"" []	6150042	\N	\N	EFO	8	EFO	disease	Lipomyelomeningocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268835	"" []	6632995	\N	\N	EFO	9	EFO	disposition	Lipomyelomeningocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268835	"" []	6925800	\N	\N	EFO	10	EFO	material property	Lipomyelomeningocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268835	"" []	7099149	\N	\N	EFO	11	EFO	experimental factor	Lipomyelomeningocele
Orphanet:268838	\N	\N	"" []	Orphanet:268838	"" []	75490	\N	\N	EFO	0	EFO	Leptomyelolipoma	Leptomyelolipoma
Orphanet:268832	Orphanet:268838	\N	"" []	Orphanet:268838	"" []	218024	\N	\N	EFO	1	EFO	Lipoma associated with neurospinal dysraphism	Leptomyelolipoma
Orphanet:268357	Orphanet:268832	\N	"" []	Orphanet:268838	"" []	572928	\N	\N	EFO	2	EFO	Neural tube closure defect	Leptomyelolipoma
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:268838	"" []	1155405	\N	\N	EFO	3	EFO	Neural tube defect	Leptomyelolipoma
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268838	"" []	2038204	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Leptomyelolipoma
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268838	"" []	3188519	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Leptomyelolipoma
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268838	"" []	4395571	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Leptomyelolipoma
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268838	"" []	4395572	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Leptomyelolipoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268838	"" []	5413515	\N	\N	EFO	7	EFO	genetic disorder	Leptomyelolipoma
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268838	"" []	5413516	\N	\N	EFO	7	EFO	genetic disorder	Leptomyelolipoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268838	"" []	6150043	\N	\N	EFO	8	EFO	disease	Leptomyelolipoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268838	"" []	6632996	\N	\N	EFO	9	EFO	disposition	Leptomyelolipoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268838	"" []	6925801	\N	\N	EFO	10	EFO	material property	Leptomyelolipoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268838	"" []	7099150	\N	\N	EFO	11	EFO	experimental factor	Leptomyelolipoma
Orphanet:268843	\N	\N	"" []	Orphanet:268843	"" []	75491	\N	\N	EFO	0	EFO	Malformation of the neurenteric canal, spinal cord and column	Malformation of the neurenteric canal, spinal cord and column
Orphanet:3388	Orphanet:268843	\N	"" []	Orphanet:268843	"" []	218025	\N	\N	EFO	1	EFO	Neural tube defect	Malformation of the neurenteric canal, spinal cord and column
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268843	"" []	572929	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Malformation of the neurenteric canal, spinal cord and column
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268843	"" []	1155406	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Malformation of the neurenteric canal, spinal cord and column
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268843	"" []	2038205	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Malformation of the neurenteric canal, spinal cord and column
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268843	"" []	2038206	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Malformation of the neurenteric canal, spinal cord and column
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268843	"" []	3188520	\N	\N	EFO	5	EFO	genetic disorder	Malformation of the neurenteric canal, spinal cord and column
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268843	"" []	3188521	\N	\N	EFO	5	EFO	genetic disorder	Malformation of the neurenteric canal, spinal cord and column
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268843	"" []	4395573	\N	\N	EFO	6	EFO	disease	Malformation of the neurenteric canal, spinal cord and column
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268843	"" []	5413517	\N	\N	EFO	7	EFO	disposition	Malformation of the neurenteric canal, spinal cord and column
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268843	"" []	6150044	\N	\N	EFO	8	EFO	material property	Malformation of the neurenteric canal, spinal cord and column
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268843	"" []	6632997	\N	\N	EFO	9	EFO	experimental factor	Malformation of the neurenteric canal, spinal cord and column
Orphanet:268861	\N	\N	"" []	Orphanet:268861	"" []	75492	\N	\N	EFO	0	EFO	Primary tethered chord syndrome	Primary tethered chord syndrome
Orphanet:268843	Orphanet:268861	\N	"" []	Orphanet:268861	"" []	218026	\N	\N	EFO	1	EFO	Malformation of the neurenteric canal, spinal cord and column	Primary tethered chord syndrome
Orphanet:3388	Orphanet:268843	\N	"" []	Orphanet:268861	"" []	572930	\N	\N	EFO	2	EFO	Neural tube defect	Primary tethered chord syndrome
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268861	"" []	1155407	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Primary tethered chord syndrome
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268861	"" []	2038207	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Primary tethered chord syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268861	"" []	3188522	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Primary tethered chord syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268861	"" []	3188523	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Primary tethered chord syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268861	"" []	4395574	\N	\N	EFO	6	EFO	genetic disorder	Primary tethered chord syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268861	"" []	4395575	\N	\N	EFO	6	EFO	genetic disorder	Primary tethered chord syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268861	"" []	5413518	\N	\N	EFO	7	EFO	disease	Primary tethered chord syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268861	"" []	6150045	\N	\N	EFO	8	EFO	disposition	Primary tethered chord syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268861	"" []	6632998	\N	\N	EFO	9	EFO	material property	Primary tethered chord syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268861	"" []	6925802	\N	\N	EFO	10	EFO	experimental factor	Primary tethered chord syndrome
Orphanet:268865	\N	\N	"" []	Orphanet:268865	"" []	75493	\N	\N	EFO	0	EFO	Neurenteric cyst	Neurenteric cyst
Orphanet:268843	Orphanet:268865	\N	"" []	Orphanet:268865	"" []	218027	\N	\N	EFO	1	EFO	Malformation of the neurenteric canal, spinal cord and column	Neurenteric cyst
Orphanet:3388	Orphanet:268843	\N	"" []	Orphanet:268865	"" []	572931	\N	\N	EFO	2	EFO	Neural tube defect	Neurenteric cyst
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268865	"" []	1155408	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Neurenteric cyst
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268865	"" []	2038208	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Neurenteric cyst
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268865	"" []	3188524	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Neurenteric cyst
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268865	"" []	3188525	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Neurenteric cyst
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268865	"" []	4395576	\N	\N	EFO	6	EFO	genetic disorder	Neurenteric cyst
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268865	"" []	4395577	\N	\N	EFO	6	EFO	genetic disorder	Neurenteric cyst
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268865	"" []	5413519	\N	\N	EFO	7	EFO	disease	Neurenteric cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268865	"" []	6150046	\N	\N	EFO	8	EFO	disposition	Neurenteric cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268865	"" []	6632999	\N	\N	EFO	9	EFO	material property	Neurenteric cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268865	"" []	6925803	\N	\N	EFO	10	EFO	experimental factor	Neurenteric cyst
Orphanet:268868	\N	\N	"" []	Orphanet:268868	"" []	75494	\N	\N	EFO	0	EFO	Isolated amyelia	Isolated amyelia
Orphanet:268843	Orphanet:268868	\N	"" []	Orphanet:268868	"" []	218028	\N	\N	EFO	1	EFO	Malformation of the neurenteric canal, spinal cord and column	Isolated amyelia
Orphanet:3388	Orphanet:268843	\N	"" []	Orphanet:268868	"" []	572932	\N	\N	EFO	2	EFO	Neural tube defect	Isolated amyelia
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268868	"" []	1155409	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Isolated amyelia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268868	"" []	2038209	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Isolated amyelia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268868	"" []	3188526	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated amyelia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268868	"" []	3188527	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Isolated amyelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268868	"" []	4395578	\N	\N	EFO	6	EFO	genetic disorder	Isolated amyelia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268868	"" []	4395579	\N	\N	EFO	6	EFO	genetic disorder	Isolated amyelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268868	"" []	5413520	\N	\N	EFO	7	EFO	disease	Isolated amyelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268868	"" []	6150047	\N	\N	EFO	8	EFO	disposition	Isolated amyelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268868	"" []	6633000	\N	\N	EFO	9	EFO	material property	Isolated amyelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268868	"" []	6925804	\N	\N	EFO	10	EFO	experimental factor	Isolated amyelia
Orphanet:268882	\N	\N	"" []	Orphanet:268882	"" []	75495	\N	\N	EFO	0	EFO	Arnold-Chiari malformation type I	Arnold-Chiari malformation type I
Orphanet:268843	Orphanet:268882	\N	"" []	Orphanet:268882	"" []	218029	\N	\N	EFO	1	EFO	Malformation of the neurenteric canal, spinal cord and column	Arnold-Chiari malformation type I
Orphanet:3388	Orphanet:268843	\N	"" []	Orphanet:268882	"" []	572933	\N	\N	EFO	2	EFO	Neural tube defect	Arnold-Chiari malformation type I
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:268882	"" []	1155410	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Arnold-Chiari malformation type I
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268882	"" []	2038210	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Arnold-Chiari malformation type I
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268882	"" []	3188528	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Arnold-Chiari malformation type I
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268882	"" []	3188529	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Arnold-Chiari malformation type I
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268882	"" []	4395580	\N	\N	EFO	6	EFO	genetic disorder	Arnold-Chiari malformation type I
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268882	"" []	4395581	\N	\N	EFO	6	EFO	genetic disorder	Arnold-Chiari malformation type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268882	"" []	5413521	\N	\N	EFO	7	EFO	disease	Arnold-Chiari malformation type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268882	"" []	6150048	\N	\N	EFO	8	EFO	disposition	Arnold-Chiari malformation type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268882	"" []	6633001	\N	\N	EFO	9	EFO	material property	Arnold-Chiari malformation type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268882	"" []	6925805	\N	\N	EFO	10	EFO	experimental factor	Arnold-Chiari malformation type I
Orphanet:268926	\N	\N	"" []	Orphanet:268926	"" []	75496	\N	\N	EFO	0	EFO	Midline cerebral malformation	Midline cerebral malformation
Orphanet:269553	Orphanet:268926	\N	"" []	Orphanet:268926	"" []	218030	\N	\N	EFO	1	EFO	Genetic cerebral malformation	Midline cerebral malformation
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:268926	"" []	572934	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Midline cerebral malformation
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268926	"" []	1155411	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Midline cerebral malformation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268926	"" []	2038211	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Midline cerebral malformation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268926	"" []	2038212	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Midline cerebral malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268926	"" []	3188530	\N	\N	EFO	5	EFO	genetic disorder	Midline cerebral malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268926	"" []	3188531	\N	\N	EFO	5	EFO	genetic disorder	Midline cerebral malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268926	"" []	4395582	\N	\N	EFO	6	EFO	disease	Midline cerebral malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268926	"" []	5413522	\N	\N	EFO	7	EFO	disposition	Midline cerebral malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268926	"" []	6150049	\N	\N	EFO	8	EFO	material property	Midline cerebral malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268926	"" []	6633002	\N	\N	EFO	9	EFO	experimental factor	Midline cerebral malformation
Orphanet:268940	\N	\N	"" []	Orphanet:268940	"" []	75497	\N	\N	EFO	0	EFO	Bilateral polymicrogyria	Bilateral polymicrogyria
Orphanet:35981	Orphanet:268940	\N	"" []	Orphanet:268940	"" []	218031	\N	\N	EFO	1	EFO	Polymicrogyria	Bilateral polymicrogyria
Orphanet:163209	Orphanet:35981	\N	"" []	Orphanet:268940	"" []	572935	\N	\N	EFO	2	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Bilateral polymicrogyria
Orphanet:183763	Orphanet:35981	\N	"" []	Orphanet:268940	"" []	572936	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Bilateral polymicrogyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:268940	"" []	1155412	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Bilateral polymicrogyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:268940	"" []	1155413	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Bilateral polymicrogyria
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:268940	"" []	1155414	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Bilateral polymicrogyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:268940	"" []	2038213	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Bilateral polymicrogyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:268940	"" []	2038214	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Bilateral polymicrogyria
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:268940	"" []	2038215	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Bilateral polymicrogyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:268940	"" []	3188532	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Bilateral polymicrogyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268940	"" []	3188533	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Bilateral polymicrogyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268940	"" []	5413524	\N	\N	EFO	7	EFO	genetic disorder	Bilateral polymicrogyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268940	"" []	4395584	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Bilateral polymicrogyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268940	"" []	4395585	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Bilateral polymicrogyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268940	"" []	5877151	\N	\N	EFO	8	EFO	disease	Bilateral polymicrogyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268940	"" []	5413523	\N	\N	EFO	7	EFO	genetic disorder	Bilateral polymicrogyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268940	"" []	6470370	\N	\N	EFO	9	EFO	disposition	Bilateral polymicrogyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268940	"" []	6848494	\N	\N	EFO	10	EFO	material property	Bilateral polymicrogyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268940	"" []	7068449	\N	\N	EFO	11	EFO	experimental factor	Bilateral polymicrogyria
Orphanet:268943	\N	\N	"" []	Orphanet:268943	"" []	75498	\N	\N	EFO	0	EFO	Unilateral polymicrogyria	Unilateral polymicrogyria
Orphanet:35981	Orphanet:268943	\N	"" []	Orphanet:268943	"" []	218032	\N	\N	EFO	1	EFO	Polymicrogyria	Unilateral polymicrogyria
Orphanet:163209	Orphanet:35981	\N	"" []	Orphanet:268943	"" []	572937	\N	\N	EFO	2	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Unilateral polymicrogyria
Orphanet:183763	Orphanet:35981	\N	"" []	Orphanet:268943	"" []	572938	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Unilateral polymicrogyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:268943	"" []	1155415	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Unilateral polymicrogyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:268943	"" []	1155416	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Unilateral polymicrogyria
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:268943	"" []	1155417	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Unilateral polymicrogyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:268943	"" []	2038216	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Unilateral polymicrogyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:268943	"" []	2038217	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Unilateral polymicrogyria
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:268943	"" []	2038218	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Unilateral polymicrogyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:268943	"" []	3188535	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Unilateral polymicrogyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268943	"" []	3188536	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Unilateral polymicrogyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268943	"" []	5413527	\N	\N	EFO	7	EFO	genetic disorder	Unilateral polymicrogyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268943	"" []	4395588	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Unilateral polymicrogyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268943	"" []	4395589	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Unilateral polymicrogyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268943	"" []	5877152	\N	\N	EFO	8	EFO	disease	Unilateral polymicrogyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268943	"" []	5413526	\N	\N	EFO	7	EFO	genetic disorder	Unilateral polymicrogyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268943	"" []	6470371	\N	\N	EFO	9	EFO	disposition	Unilateral polymicrogyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268943	"" []	6848495	\N	\N	EFO	10	EFO	material property	Unilateral polymicrogyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268943	"" []	7068450	\N	\N	EFO	11	EFO	experimental factor	Unilateral polymicrogyria
Orphanet:268947	\N	\N	"" []	Orphanet:268947	"" []	75499	\N	\N	EFO	0	EFO	Unilateral focal polymicrogyria	Unilateral focal polymicrogyria
Orphanet:268943	Orphanet:268947	\N	"" []	Orphanet:268947	"" []	218033	\N	\N	EFO	1	EFO	Unilateral polymicrogyria	Unilateral focal polymicrogyria
Orphanet:35981	Orphanet:268943	\N	"" []	Orphanet:268947	"" []	572939	\N	\N	EFO	2	EFO	Polymicrogyria	Unilateral focal polymicrogyria
Orphanet:163209	Orphanet:35981	\N	"" []	Orphanet:268947	"" []	1155418	\N	\N	EFO	3	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Unilateral focal polymicrogyria
Orphanet:183763	Orphanet:35981	\N	"" []	Orphanet:268947	"" []	1155419	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Unilateral focal polymicrogyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:268947	"" []	2038219	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Unilateral focal polymicrogyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:268947	"" []	2038220	\N	\N	EFO	4	EFO	Genetic cerebral malformation	Unilateral focal polymicrogyria
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:268947	"" []	2038221	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Unilateral focal polymicrogyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:268947	"" []	3188538	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Unilateral focal polymicrogyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:268947	"" []	3188539	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Unilateral focal polymicrogyria
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:268947	"" []	3188540	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Unilateral focal polymicrogyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:268947	"" []	4395591	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Unilateral focal polymicrogyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268947	"" []	4395592	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Unilateral focal polymicrogyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268947	"" []	6150053	\N	\N	EFO	8	EFO	genetic disorder	Unilateral focal polymicrogyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268947	"" []	5413530	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Unilateral focal polymicrogyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268947	"" []	5413531	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Unilateral focal polymicrogyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268947	"" []	6470372	\N	\N	EFO	9	EFO	disease	Unilateral focal polymicrogyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268947	"" []	6150052	\N	\N	EFO	8	EFO	genetic disorder	Unilateral focal polymicrogyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268947	"" []	6848496	\N	\N	EFO	10	EFO	disposition	Unilateral focal polymicrogyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268947	"" []	7068451	\N	\N	EFO	11	EFO	material property	Unilateral focal polymicrogyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268947	"" []	7197163	\N	\N	EFO	12	EFO	experimental factor	Unilateral focal polymicrogyria
Orphanet:268950	\N	\N	"" []	Orphanet:268950	"" []	75500	\N	\N	EFO	0	EFO	Cerebral cortical dysplasia	Cerebral cortical dysplasia
Orphanet:163209	Orphanet:268950	\N	"" []	Orphanet:268950	"" []	218034	\N	\N	EFO	1	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Cerebral cortical dysplasia
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:268950	"" []	572940	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Cerebral cortical dysplasia
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:268950	"" []	572941	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Cerebral cortical dysplasia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:268950	"" []	1155420	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Cerebral cortical dysplasia
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:268950	"" []	1155421	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Cerebral cortical dysplasia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:268950	"" []	2038222	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cerebral cortical dysplasia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268950	"" []	2038223	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Cerebral cortical dysplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268950	"" []	4395596	\N	\N	EFO	6	EFO	genetic disorder	Cerebral cortical dysplasia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268950	"" []	3188542	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cerebral cortical dysplasia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268950	"" []	3188543	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Cerebral cortical dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268950	"" []	5182292	\N	\N	EFO	7	EFO	disease	Cerebral cortical dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268950	"" []	4395595	\N	\N	EFO	6	EFO	genetic disorder	Cerebral cortical dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268950	"" []	5997648	\N	\N	EFO	8	EFO	disposition	Cerebral cortical dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268950	"" []	6550994	\N	\N	EFO	9	EFO	material property	Cerebral cortical dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268950	"" []	6889193	\N	\N	EFO	10	EFO	experimental factor	Cerebral cortical dysplasia
Orphanet:268961	\N	\N	"" []	Orphanet:268961	"" []	75501	\N	\N	EFO	0	EFO	Isolated focal cortical dysplasia type I	Isolated focal cortical dysplasia type I
Orphanet:65683	Orphanet:268961	\N	"" []	Orphanet:268961	"" []	218035	\N	\N	EFO	1	EFO	Isolated focal cortical dysplasia	Isolated focal cortical dysplasia type I
Orphanet:268950	Orphanet:65683	\N	"" []	Orphanet:268961	"" []	572942	\N	\N	EFO	2	EFO	Cerebral cortical dysplasia	Isolated focal cortical dysplasia type I
Orphanet:163209	Orphanet:268950	\N	"" []	Orphanet:268961	"" []	1155422	\N	\N	EFO	3	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Isolated focal cortical dysplasia type I
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:268961	"" []	2038224	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Isolated focal cortical dysplasia type I
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:268961	"" []	2038225	\N	\N	EFO	4	EFO	Genetic cerebral malformation	Isolated focal cortical dysplasia type I
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:268961	"" []	3188544	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Isolated focal cortical dysplasia type I
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:268961	"" []	3188545	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Isolated focal cortical dysplasia type I
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:268961	"" []	4395597	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type I
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268961	"" []	4395598	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Isolated focal cortical dysplasia type I
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268961	"" []	6150058	\N	\N	EFO	8	EFO	genetic disorder	Isolated focal cortical dysplasia type I
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268961	"" []	5413535	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Isolated focal cortical dysplasia type I
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268961	"" []	5413536	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268961	"" []	6550995	\N	\N	EFO	9	EFO	disease	Isolated focal cortical dysplasia type I
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268961	"" []	6150057	\N	\N	EFO	8	EFO	genetic disorder	Isolated focal cortical dysplasia type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268961	"" []	6889194	\N	\N	EFO	10	EFO	disposition	Isolated focal cortical dysplasia type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268961	"" []	7085925	\N	\N	EFO	11	EFO	material property	Isolated focal cortical dysplasia type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268961	"" []	7204340	\N	\N	EFO	12	EFO	experimental factor	Isolated focal cortical dysplasia type I
Orphanet:268973	\N	\N	"" []	Orphanet:268973	"" []	75502	\N	\N	EFO	0	EFO	Isolated focal cortical dysplasia type Ia	Isolated focal cortical dysplasia type Ia
Orphanet:268961	Orphanet:268973	\N	"" []	Orphanet:268973	"" []	218036	\N	\N	EFO	1	EFO	Isolated focal cortical dysplasia type I	Isolated focal cortical dysplasia type Ia
Orphanet:65683	Orphanet:268961	\N	"" []	Orphanet:268973	"" []	572943	\N	\N	EFO	2	EFO	Isolated focal cortical dysplasia	Isolated focal cortical dysplasia type Ia
Orphanet:268950	Orphanet:65683	\N	"" []	Orphanet:268973	"" []	1155423	\N	\N	EFO	3	EFO	Cerebral cortical dysplasia	Isolated focal cortical dysplasia type Ia
Orphanet:163209	Orphanet:268950	\N	"" []	Orphanet:268973	"" []	2038226	\N	\N	EFO	4	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Isolated focal cortical dysplasia type Ia
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:268973	"" []	3188546	\N	\N	EFO	5	EFO	Cerebral malformation with epilepsy	Isolated focal cortical dysplasia type Ia
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:268973	"" []	3188547	\N	\N	EFO	5	EFO	Genetic cerebral malformation	Isolated focal cortical dysplasia type Ia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:268973	"" []	4395599	\N	\N	EFO	6	EFO	Rare genetic epilepsy	Isolated focal cortical dysplasia type Ia
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:268973	"" []	4395600	\N	\N	EFO	6	EFO	Genetic non-syndromic central nervous system malformation	Isolated focal cortical dysplasia type Ia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:268973	"" []	5413537	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type Ia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268973	"" []	5413538	\N	\N	EFO	7	EFO	Genetic central nervous system malformation	Isolated focal cortical dysplasia type Ia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268973	"" []	6633010	\N	\N	EFO	9	EFO	genetic disorder	Isolated focal cortical dysplasia type Ia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268973	"" []	6150060	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Isolated focal cortical dysplasia type Ia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268973	"" []	6150061	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type Ia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268973	"" []	6889195	\N	\N	EFO	10	EFO	disease	Isolated focal cortical dysplasia type Ia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268973	"" []	6633009	\N	\N	EFO	9	EFO	genetic disorder	Isolated focal cortical dysplasia type Ia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268973	"" []	7085926	\N	\N	EFO	11	EFO	disposition	Isolated focal cortical dysplasia type Ia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268973	"" []	7204341	\N	\N	EFO	12	EFO	material property	Isolated focal cortical dysplasia type Ia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268973	"" []	7286388	\N	\N	EFO	13	EFO	experimental factor	Isolated focal cortical dysplasia type Ia
Orphanet:268980	\N	\N	"" []	Orphanet:268980	"" []	75503	\N	\N	EFO	0	EFO	Isolated focal cortical dysplasia type Ib	Isolated focal cortical dysplasia type Ib
Orphanet:268961	Orphanet:268980	\N	"" []	Orphanet:268980	"" []	218037	\N	\N	EFO	1	EFO	Isolated focal cortical dysplasia type I	Isolated focal cortical dysplasia type Ib
Orphanet:65683	Orphanet:268961	\N	"" []	Orphanet:268980	"" []	572944	\N	\N	EFO	2	EFO	Isolated focal cortical dysplasia	Isolated focal cortical dysplasia type Ib
Orphanet:268950	Orphanet:65683	\N	"" []	Orphanet:268980	"" []	1155424	\N	\N	EFO	3	EFO	Cerebral cortical dysplasia	Isolated focal cortical dysplasia type Ib
Orphanet:163209	Orphanet:268950	\N	"" []	Orphanet:268980	"" []	2038227	\N	\N	EFO	4	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Isolated focal cortical dysplasia type Ib
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:268980	"" []	3188548	\N	\N	EFO	5	EFO	Cerebral malformation with epilepsy	Isolated focal cortical dysplasia type Ib
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:268980	"" []	3188549	\N	\N	EFO	5	EFO	Genetic cerebral malformation	Isolated focal cortical dysplasia type Ib
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:268980	"" []	4395601	\N	\N	EFO	6	EFO	Rare genetic epilepsy	Isolated focal cortical dysplasia type Ib
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:268980	"" []	4395602	\N	\N	EFO	6	EFO	Genetic non-syndromic central nervous system malformation	Isolated focal cortical dysplasia type Ib
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:268980	"" []	5413539	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type Ib
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268980	"" []	5413540	\N	\N	EFO	7	EFO	Genetic central nervous system malformation	Isolated focal cortical dysplasia type Ib
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268980	"" []	6633013	\N	\N	EFO	9	EFO	genetic disorder	Isolated focal cortical dysplasia type Ib
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268980	"" []	6150063	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Isolated focal cortical dysplasia type Ib
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268980	"" []	6150064	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type Ib
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268980	"" []	6889196	\N	\N	EFO	10	EFO	disease	Isolated focal cortical dysplasia type Ib
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268980	"" []	6633012	\N	\N	EFO	9	EFO	genetic disorder	Isolated focal cortical dysplasia type Ib
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268980	"" []	7085927	\N	\N	EFO	11	EFO	disposition	Isolated focal cortical dysplasia type Ib
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268980	"" []	7204342	\N	\N	EFO	12	EFO	material property	Isolated focal cortical dysplasia type Ib
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268980	"" []	7286389	\N	\N	EFO	13	EFO	experimental factor	Isolated focal cortical dysplasia type Ib
Orphanet:268987	\N	\N	"" []	Orphanet:268987	"" []	75504	\N	\N	EFO	0	EFO	Isolated focal cortical dysplasia type Ic	Isolated focal cortical dysplasia type Ic
Orphanet:268961	Orphanet:268987	\N	"" []	Orphanet:268987	"" []	218038	\N	\N	EFO	1	EFO	Isolated focal cortical dysplasia type I	Isolated focal cortical dysplasia type Ic
Orphanet:65683	Orphanet:268961	\N	"" []	Orphanet:268987	"" []	572945	\N	\N	EFO	2	EFO	Isolated focal cortical dysplasia	Isolated focal cortical dysplasia type Ic
Orphanet:268950	Orphanet:65683	\N	"" []	Orphanet:268987	"" []	1155425	\N	\N	EFO	3	EFO	Cerebral cortical dysplasia	Isolated focal cortical dysplasia type Ic
Orphanet:163209	Orphanet:268950	\N	"" []	Orphanet:268987	"" []	2038228	\N	\N	EFO	4	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Isolated focal cortical dysplasia type Ic
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:268987	"" []	3188550	\N	\N	EFO	5	EFO	Cerebral malformation with epilepsy	Isolated focal cortical dysplasia type Ic
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:268987	"" []	3188551	\N	\N	EFO	5	EFO	Genetic cerebral malformation	Isolated focal cortical dysplasia type Ic
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:268987	"" []	4395603	\N	\N	EFO	6	EFO	Rare genetic epilepsy	Isolated focal cortical dysplasia type Ic
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:268987	"" []	4395604	\N	\N	EFO	6	EFO	Genetic non-syndromic central nervous system malformation	Isolated focal cortical dysplasia type Ic
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:268987	"" []	5413541	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type Ic
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268987	"" []	5413542	\N	\N	EFO	7	EFO	Genetic central nervous system malformation	Isolated focal cortical dysplasia type Ic
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268987	"" []	6633016	\N	\N	EFO	9	EFO	genetic disorder	Isolated focal cortical dysplasia type Ic
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268987	"" []	6150066	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Isolated focal cortical dysplasia type Ic
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268987	"" []	6150067	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type Ic
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268987	"" []	6889197	\N	\N	EFO	10	EFO	disease	Isolated focal cortical dysplasia type Ic
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268987	"" []	6633015	\N	\N	EFO	9	EFO	genetic disorder	Isolated focal cortical dysplasia type Ic
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268987	"" []	7085928	\N	\N	EFO	11	EFO	disposition	Isolated focal cortical dysplasia type Ic
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268987	"" []	7204343	\N	\N	EFO	12	EFO	material property	Isolated focal cortical dysplasia type Ic
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268987	"" []	7286390	\N	\N	EFO	13	EFO	experimental factor	Isolated focal cortical dysplasia type Ic
Orphanet:268994	\N	\N	"" []	Orphanet:268994	"" []	75505	\N	\N	EFO	0	EFO	Isolated focal cortical dysplasia type II	Isolated focal cortical dysplasia type II
Orphanet:65683	Orphanet:268994	\N	"" []	Orphanet:268994	"" []	218039	\N	\N	EFO	1	EFO	Isolated focal cortical dysplasia	Isolated focal cortical dysplasia type II
Orphanet:268950	Orphanet:65683	\N	"" []	Orphanet:268994	"" []	572946	\N	\N	EFO	2	EFO	Cerebral cortical dysplasia	Isolated focal cortical dysplasia type II
Orphanet:163209	Orphanet:268950	\N	"" []	Orphanet:268994	"" []	1155426	\N	\N	EFO	3	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Isolated focal cortical dysplasia type II
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:268994	"" []	2038229	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Isolated focal cortical dysplasia type II
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:268994	"" []	2038230	\N	\N	EFO	4	EFO	Genetic cerebral malformation	Isolated focal cortical dysplasia type II
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:268994	"" []	3188552	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Isolated focal cortical dysplasia type II
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:268994	"" []	3188553	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Isolated focal cortical dysplasia type II
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:268994	"" []	4395605	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type II
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:268994	"" []	4395606	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Isolated focal cortical dysplasia type II
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268994	"" []	6150070	\N	\N	EFO	8	EFO	genetic disorder	Isolated focal cortical dysplasia type II
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:268994	"" []	5413544	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Isolated focal cortical dysplasia type II
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:268994	"" []	5413545	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:268994	"" []	6550996	\N	\N	EFO	9	EFO	disease	Isolated focal cortical dysplasia type II
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:268994	"" []	6150069	\N	\N	EFO	8	EFO	genetic disorder	Isolated focal cortical dysplasia type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:268994	"" []	6889198	\N	\N	EFO	10	EFO	disposition	Isolated focal cortical dysplasia type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:268994	"" []	7085929	\N	\N	EFO	11	EFO	material property	Isolated focal cortical dysplasia type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:268994	"" []	7204344	\N	\N	EFO	12	EFO	experimental factor	Isolated focal cortical dysplasia type II
Orphanet:269	\N	\N	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	75506	\N	\N	EFO	0	EFO	Facioscapulohumeral dystrophy	Facioscapulohumeral dystrophy
Orphanet:206644	Orphanet:269	\N	"" []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	218040	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	Facioscapulohumeral dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	572947	\N	\N	EFO	2	EFO	Muscular dystrophy	Facioscapulohumeral dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	1155427	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Facioscapulohumeral dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	2038231	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Facioscapulohumeral dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	3188554	\N	\N	EFO	5	EFO	muscular disease	Facioscapulohumeral dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	3188555	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Facioscapulohumeral dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	4395607	\N	\N	EFO	6	EFO	skeletal system disease	Facioscapulohumeral dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	4395608	\N	\N	EFO	6	EFO	genetic disorder	Facioscapulohumeral dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	5413546	\N	\N	EFO	7	EFO	disease	Facioscapulohumeral dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	5413547	\N	\N	EFO	7	EFO	disease	Facioscapulohumeral dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	6150071	\N	\N	EFO	8	EFO	disposition	Facioscapulohumeral dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	6633018	\N	\N	EFO	9	EFO	material property	Facioscapulohumeral dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269	"Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles." []	6925812	\N	\N	EFO	10	EFO	experimental factor	Facioscapulohumeral dystrophy
Orphanet:2690	\N	\N	"" []	Orphanet:2690	"" []	75507	\N	\N	EFO	0	EFO	Neutropenia - monocytopenia - deafness	Neutropenia - monocytopenia - deafness
Orphanet:331184	Orphanet:2690	\N	"" []	Orphanet:2690	"" []	218041	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Neutropenia - monocytopenia - deafness
Orphanet:90642	Orphanet:2690	\N	"" []	Orphanet:2690	"" []	218042	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Neutropenia - monocytopenia - deafness
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:2690	"" []	572948	\N	\N	EFO	2	EFO	Constitutional neutropenia	Neutropenia - monocytopenia - deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2690	"" []	572949	\N	\N	EFO	2	EFO	Rare genetic deafness	Neutropenia - monocytopenia - deafness
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:2690	"" []	1155428	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Neutropenia - monocytopenia - deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2690	"" []	1155429	\N	\N	EFO	3	EFO	genetic disorder	Neutropenia - monocytopenia - deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2690	"" []	1155430	\N	\N	EFO	3	EFO	auditory system disease	Neutropenia - monocytopenia - deafness
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:2690	"" []	2038232	\N	\N	EFO	4	EFO	Primary immunodeficiency	Neutropenia - monocytopenia - deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2690	"" []	5413548	\N	\N	EFO	7	EFO	disease	Neutropenia - monocytopenia - deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2690	"" []	2038234	\N	\N	EFO	4	EFO	sensory system disease	Neutropenia - monocytopenia - deafness
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:2690	"" []	3188556	\N	\N	EFO	5	EFO	Rare genetic immune disease	Neutropenia - monocytopenia - deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2690	"" []	5817637	\N	\N	EFO	8	EFO	disposition	Neutropenia - monocytopenia - deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2690	"" []	3188558	\N	\N	EFO	5	EFO	nervous system disease	Neutropenia - monocytopenia - deafness
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2690	"" []	4395609	\N	\N	EFO	6	EFO	genetic disorder	Neutropenia - monocytopenia - deafness
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:2690	"" []	4395610	\N	\N	EFO	6	EFO	immune system disease	Neutropenia - monocytopenia - deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2690	"" []	6410044	\N	\N	EFO	9	EFO	material property	Neutropenia - monocytopenia - deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2690	"" []	4395612	\N	\N	EFO	6	EFO	disease	Neutropenia - monocytopenia - deafness
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2690	"" []	5413549	\N	\N	EFO	7	EFO	disease	Neutropenia - monocytopenia - deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2690	"" []	6807885	\N	\N	EFO	10	EFO	experimental factor	Neutropenia - monocytopenia - deafness
Orphanet:269001	\N	\N	"" []	Orphanet:269001	"" []	75508	\N	\N	EFO	0	EFO	Isolated focal cortical dysplasia type IIa	Isolated focal cortical dysplasia type IIa
Orphanet:268994	Orphanet:269001	\N	"" []	Orphanet:269001	"" []	218043	\N	\N	EFO	1	EFO	Isolated focal cortical dysplasia type II	Isolated focal cortical dysplasia type IIa
Orphanet:65683	Orphanet:268994	\N	"" []	Orphanet:269001	"" []	572950	\N	\N	EFO	2	EFO	Isolated focal cortical dysplasia	Isolated focal cortical dysplasia type IIa
Orphanet:268950	Orphanet:65683	\N	"" []	Orphanet:269001	"" []	1155431	\N	\N	EFO	3	EFO	Cerebral cortical dysplasia	Isolated focal cortical dysplasia type IIa
Orphanet:163209	Orphanet:268950	\N	"" []	Orphanet:269001	"" []	2038235	\N	\N	EFO	4	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Isolated focal cortical dysplasia type IIa
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:269001	"" []	3188559	\N	\N	EFO	5	EFO	Cerebral malformation with epilepsy	Isolated focal cortical dysplasia type IIa
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:269001	"" []	3188560	\N	\N	EFO	5	EFO	Genetic cerebral malformation	Isolated focal cortical dysplasia type IIa
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:269001	"" []	4395613	\N	\N	EFO	6	EFO	Rare genetic epilepsy	Isolated focal cortical dysplasia type IIa
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:269001	"" []	4395614	\N	\N	EFO	6	EFO	Genetic non-syndromic central nervous system malformation	Isolated focal cortical dysplasia type IIa
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:269001	"" []	5413552	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type IIa
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:269001	"" []	5413553	\N	\N	EFO	7	EFO	Genetic central nervous system malformation	Isolated focal cortical dysplasia type IIa
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269001	"" []	6633021	\N	\N	EFO	9	EFO	genetic disorder	Isolated focal cortical dysplasia type IIa
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269001	"" []	6150073	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Isolated focal cortical dysplasia type IIa
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269001	"" []	6150074	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type IIa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269001	"" []	6889199	\N	\N	EFO	10	EFO	disease	Isolated focal cortical dysplasia type IIa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269001	"" []	6633020	\N	\N	EFO	9	EFO	genetic disorder	Isolated focal cortical dysplasia type IIa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269001	"" []	7085930	\N	\N	EFO	11	EFO	disposition	Isolated focal cortical dysplasia type IIa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269001	"" []	7204345	\N	\N	EFO	12	EFO	material property	Isolated focal cortical dysplasia type IIa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269001	"" []	7286391	\N	\N	EFO	13	EFO	experimental factor	Isolated focal cortical dysplasia type IIa
Orphanet:269008	\N	\N	"" []	Orphanet:269008	"" []	75509	\N	\N	EFO	0	EFO	Isolated focal cortical dysplasia type IIb	Isolated focal cortical dysplasia type IIb
Orphanet:268994	Orphanet:269008	\N	"" []	Orphanet:269008	"" []	218044	\N	\N	EFO	1	EFO	Isolated focal cortical dysplasia type II	Isolated focal cortical dysplasia type IIb
Orphanet:65683	Orphanet:268994	\N	"" []	Orphanet:269008	"" []	572951	\N	\N	EFO	2	EFO	Isolated focal cortical dysplasia	Isolated focal cortical dysplasia type IIb
Orphanet:268950	Orphanet:65683	\N	"" []	Orphanet:269008	"" []	1155432	\N	\N	EFO	3	EFO	Cerebral cortical dysplasia	Isolated focal cortical dysplasia type IIb
Orphanet:163209	Orphanet:268950	\N	"" []	Orphanet:269008	"" []	2038236	\N	\N	EFO	4	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Isolated focal cortical dysplasia type IIb
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:269008	"" []	3188561	\N	\N	EFO	5	EFO	Cerebral malformation with epilepsy	Isolated focal cortical dysplasia type IIb
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:269008	"" []	3188562	\N	\N	EFO	5	EFO	Genetic cerebral malformation	Isolated focal cortical dysplasia type IIb
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:269008	"" []	4395615	\N	\N	EFO	6	EFO	Rare genetic epilepsy	Isolated focal cortical dysplasia type IIb
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:269008	"" []	4395616	\N	\N	EFO	6	EFO	Genetic non-syndromic central nervous system malformation	Isolated focal cortical dysplasia type IIb
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:269008	"" []	5413554	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type IIb
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:269008	"" []	5413555	\N	\N	EFO	7	EFO	Genetic central nervous system malformation	Isolated focal cortical dysplasia type IIb
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269008	"" []	6633024	\N	\N	EFO	9	EFO	genetic disorder	Isolated focal cortical dysplasia type IIb
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269008	"" []	6150076	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Isolated focal cortical dysplasia type IIb
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269008	"" []	6150077	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia type IIb
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269008	"" []	6889200	\N	\N	EFO	10	EFO	disease	Isolated focal cortical dysplasia type IIb
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269008	"" []	6633023	\N	\N	EFO	9	EFO	genetic disorder	Isolated focal cortical dysplasia type IIb
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269008	"" []	7085931	\N	\N	EFO	11	EFO	disposition	Isolated focal cortical dysplasia type IIb
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269008	"" []	7204346	\N	\N	EFO	12	EFO	material property	Isolated focal cortical dysplasia type IIb
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269008	"" []	7286392	\N	\N	EFO	13	EFO	experimental factor	Isolated focal cortical dysplasia type IIb
Orphanet:269190	\N	\N	"" []	Orphanet:269190	"" []	75510	\N	\N	EFO	0	EFO	Encephaloclastic disorder	Encephaloclastic disorder
Orphanet:269553	Orphanet:269190	\N	"" []	Orphanet:269190	"" []	218045	\N	\N	EFO	1	EFO	Genetic cerebral malformation	Encephaloclastic disorder
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:269190	"" []	572952	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Encephaloclastic disorder
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:269190	"" []	1155433	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Encephaloclastic disorder
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269190	"" []	2038237	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Encephaloclastic disorder
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269190	"" []	2038238	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Encephaloclastic disorder
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269190	"" []	3188563	\N	\N	EFO	5	EFO	genetic disorder	Encephaloclastic disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269190	"" []	3188564	\N	\N	EFO	5	EFO	genetic disorder	Encephaloclastic disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269190	"" []	4395617	\N	\N	EFO	6	EFO	disease	Encephaloclastic disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269190	"" []	5413556	\N	\N	EFO	7	EFO	disposition	Encephaloclastic disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269190	"" []	6150078	\N	\N	EFO	8	EFO	material property	Encephaloclastic disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269190	"" []	6633025	\N	\N	EFO	9	EFO	experimental factor	Encephaloclastic disorder
Orphanet:269212	\N	\N	"" []	Orphanet:269212	"" []	75511	\N	\N	EFO	0	EFO	Isolated Dandy-Walker malformation with hydrocephalus	Isolated Dandy-Walker malformation with hydrocephalus
Orphanet:217	Orphanet:269212	\N	"" []	Orphanet:269212	"" []	218046	\N	\N	EFO	1	EFO	Isolated Dandy-Walker malformation	Isolated Dandy-Walker malformation with hydrocephalus
Orphanet:269560	Orphanet:217	\N	"" []	Orphanet:269212	"" []	572953	\N	\N	EFO	2	EFO	Genetic cerebellar malformation	Isolated Dandy-Walker malformation with hydrocephalus
Orphanet:269557	Orphanet:269560	\N	"" []	Orphanet:269212	"" []	1155434	\N	\N	EFO	3	EFO	Genetic posterior fossa malformation	Isolated Dandy-Walker malformation with hydrocephalus
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:269212	"" []	2038239	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Isolated Dandy-Walker malformation with hydrocephalus
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:269212	"" []	3188565	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Isolated Dandy-Walker malformation with hydrocephalus
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269212	"" []	4395618	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Isolated Dandy-Walker malformation with hydrocephalus
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269212	"" []	4395619	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Isolated Dandy-Walker malformation with hydrocephalus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269212	"" []	5413557	\N	\N	EFO	7	EFO	genetic disorder	Isolated Dandy-Walker malformation with hydrocephalus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269212	"" []	5413558	\N	\N	EFO	7	EFO	genetic disorder	Isolated Dandy-Walker malformation with hydrocephalus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269212	"" []	6150079	\N	\N	EFO	8	EFO	disease	Isolated Dandy-Walker malformation with hydrocephalus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269212	"" []	6633026	\N	\N	EFO	9	EFO	disposition	Isolated Dandy-Walker malformation with hydrocephalus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269212	"" []	6925815	\N	\N	EFO	10	EFO	material property	Isolated Dandy-Walker malformation with hydrocephalus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269212	"" []	7099158	\N	\N	EFO	11	EFO	experimental factor	Isolated Dandy-Walker malformation with hydrocephalus
Orphanet:269215	\N	\N	"" []	Orphanet:269215	"" []	75512	\N	\N	EFO	0	EFO	Isolated Dandy-Walker malformation without hydrocephalus	Isolated Dandy-Walker malformation without hydrocephalus
Orphanet:217	Orphanet:269215	\N	"" []	Orphanet:269215	"" []	218047	\N	\N	EFO	1	EFO	Isolated Dandy-Walker malformation	Isolated Dandy-Walker malformation without hydrocephalus
Orphanet:269560	Orphanet:217	\N	"" []	Orphanet:269215	"" []	572954	\N	\N	EFO	2	EFO	Genetic cerebellar malformation	Isolated Dandy-Walker malformation without hydrocephalus
Orphanet:269557	Orphanet:269560	\N	"" []	Orphanet:269215	"" []	1155435	\N	\N	EFO	3	EFO	Genetic posterior fossa malformation	Isolated Dandy-Walker malformation without hydrocephalus
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:269215	"" []	2038240	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Isolated Dandy-Walker malformation without hydrocephalus
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:269215	"" []	3188566	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Isolated Dandy-Walker malformation without hydrocephalus
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269215	"" []	4395620	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Isolated Dandy-Walker malformation without hydrocephalus
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269215	"" []	4395621	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Isolated Dandy-Walker malformation without hydrocephalus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269215	"" []	5413559	\N	\N	EFO	7	EFO	genetic disorder	Isolated Dandy-Walker malformation without hydrocephalus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269215	"" []	5413560	\N	\N	EFO	7	EFO	genetic disorder	Isolated Dandy-Walker malformation without hydrocephalus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269215	"" []	6150080	\N	\N	EFO	8	EFO	disease	Isolated Dandy-Walker malformation without hydrocephalus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269215	"" []	6633027	\N	\N	EFO	9	EFO	disposition	Isolated Dandy-Walker malformation without hydrocephalus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269215	"" []	6925816	\N	\N	EFO	10	EFO	material property	Isolated Dandy-Walker malformation without hydrocephalus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269215	"" []	7099159	\N	\N	EFO	11	EFO	experimental factor	Isolated Dandy-Walker malformation without hydrocephalus
Orphanet:269505	\N	\N	"" []	Orphanet:269505	"" []	75513	\N	\N	EFO	0	EFO	Congenital communicating hydrocephalus	Congenital communicating hydrocephalus
Orphanet:2185	Orphanet:269505	\N	"" []	Orphanet:269505	"" []	218048	\N	\N	EFO	1	EFO	Congenital hydrocephalus	Congenital communicating hydrocephalus
Orphanet:269550	Orphanet:2185	\N	"" []	Orphanet:269505	"" []	572955	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Congenital communicating hydrocephalus
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:269505	"" []	1155436	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Congenital communicating hydrocephalus
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269505	"" []	2038241	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital communicating hydrocephalus
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269505	"" []	2038242	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital communicating hydrocephalus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269505	"" []	3188567	\N	\N	EFO	5	EFO	genetic disorder	Congenital communicating hydrocephalus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269505	"" []	3188568	\N	\N	EFO	5	EFO	genetic disorder	Congenital communicating hydrocephalus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269505	"" []	4395622	\N	\N	EFO	6	EFO	disease	Congenital communicating hydrocephalus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269505	"" []	5413561	\N	\N	EFO	7	EFO	disposition	Congenital communicating hydrocephalus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269505	"" []	6150081	\N	\N	EFO	8	EFO	material property	Congenital communicating hydrocephalus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269505	"" []	6633028	\N	\N	EFO	9	EFO	experimental factor	Congenital communicating hydrocephalus
Orphanet:269510	\N	\N	"" []	Orphanet:269510	"" []	75514	\N	\N	EFO	0	EFO	Congenital non-communicating hydrocephalus	Congenital non-communicating hydrocephalus
Orphanet:2185	Orphanet:269510	\N	"" []	Orphanet:269510	"" []	218049	\N	\N	EFO	1	EFO	Congenital hydrocephalus	Congenital non-communicating hydrocephalus
Orphanet:269550	Orphanet:2185	\N	"" []	Orphanet:269510	"" []	572956	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Congenital non-communicating hydrocephalus
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:269510	"" []	1155437	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Congenital non-communicating hydrocephalus
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269510	"" []	2038243	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital non-communicating hydrocephalus
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269510	"" []	2038244	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital non-communicating hydrocephalus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269510	"" []	3188569	\N	\N	EFO	5	EFO	genetic disorder	Congenital non-communicating hydrocephalus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269510	"" []	3188570	\N	\N	EFO	5	EFO	genetic disorder	Congenital non-communicating hydrocephalus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269510	"" []	4395623	\N	\N	EFO	6	EFO	disease	Congenital non-communicating hydrocephalus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269510	"" []	5413562	\N	\N	EFO	7	EFO	disposition	Congenital non-communicating hydrocephalus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269510	"" []	6150082	\N	\N	EFO	8	EFO	material property	Congenital non-communicating hydrocephalus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269510	"" []	6633029	\N	\N	EFO	9	EFO	experimental factor	Congenital non-communicating hydrocephalus
Orphanet:269528	\N	\N	"" []	Orphanet:269528	"" []	75515	\N	\N	EFO	0	EFO	Syndrome with microcephaly as major feature	Syndrome with microcephaly as major feature
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:269528	"" []	218050	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Syndrome with microcephaly as major feature
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:269528	"" []	572957	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Syndrome with microcephaly as major feature
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269528	"" []	1155438	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndrome with microcephaly as major feature
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269528	"" []	1155439	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Syndrome with microcephaly as major feature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269528	"" []	2038245	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with microcephaly as major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269528	"" []	2038246	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with microcephaly as major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269528	"" []	3188571	\N	\N	EFO	5	EFO	disease	Syndrome with microcephaly as major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269528	"" []	4395624	\N	\N	EFO	6	EFO	disposition	Syndrome with microcephaly as major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269528	"" []	5413563	\N	\N	EFO	7	EFO	material property	Syndrome with microcephaly as major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269528	"" []	6150083	\N	\N	EFO	8	EFO	experimental factor	Syndrome with microcephaly as major feature
Orphanet:269550	\N	\N	"" []	Orphanet:269550	"" []	75516	\N	\N	EFO	0	EFO	Genetic non-syndromic central nervous system malformation	Genetic non-syndromic central nervous system malformation
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:269550	"" []	218051	\N	\N	EFO	1	EFO	Genetic central nervous system malformation	Genetic non-syndromic central nervous system malformation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269550	"" []	572958	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Genetic non-syndromic central nervous system malformation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269550	"" []	572959	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Genetic non-syndromic central nervous system malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269550	"" []	1155440	\N	\N	EFO	3	EFO	genetic disorder	Genetic non-syndromic central nervous system malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269550	"" []	1155441	\N	\N	EFO	3	EFO	genetic disorder	Genetic non-syndromic central nervous system malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269550	"" []	2038247	\N	\N	EFO	4	EFO	disease	Genetic non-syndromic central nervous system malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269550	"" []	3188572	\N	\N	EFO	5	EFO	disposition	Genetic non-syndromic central nervous system malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269550	"" []	4395625	\N	\N	EFO	6	EFO	material property	Genetic non-syndromic central nervous system malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269550	"" []	5413564	\N	\N	EFO	7	EFO	experimental factor	Genetic non-syndromic central nervous system malformation
Orphanet:269553	\N	\N	"" []	Orphanet:269553	"" []	75517	\N	\N	EFO	0	EFO	Genetic cerebral malformation	Genetic cerebral malformation
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:269553	"" []	218052	\N	\N	EFO	1	EFO	Genetic non-syndromic central nervous system malformation	Genetic cerebral malformation
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:269553	"" []	572960	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Genetic cerebral malformation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269553	"" []	1155442	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Genetic cerebral malformation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269553	"" []	1155443	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Genetic cerebral malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269553	"" []	2038248	\N	\N	EFO	4	EFO	genetic disorder	Genetic cerebral malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269553	"" []	2038249	\N	\N	EFO	4	EFO	genetic disorder	Genetic cerebral malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269553	"" []	3188573	\N	\N	EFO	5	EFO	disease	Genetic cerebral malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269553	"" []	4395626	\N	\N	EFO	6	EFO	disposition	Genetic cerebral malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269553	"" []	5413565	\N	\N	EFO	7	EFO	material property	Genetic cerebral malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269553	"" []	6150084	\N	\N	EFO	8	EFO	experimental factor	Genetic cerebral malformation
Orphanet:269557	\N	\N	"" []	Orphanet:269557	"" []	75518	\N	\N	EFO	0	EFO	Genetic posterior fossa malformation	Genetic posterior fossa malformation
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:269557	"" []	218053	\N	\N	EFO	1	EFO	Genetic non-syndromic central nervous system malformation	Genetic posterior fossa malformation
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:269557	"" []	572961	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Genetic posterior fossa malformation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269557	"" []	1155444	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Genetic posterior fossa malformation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269557	"" []	1155445	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Genetic posterior fossa malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269557	"" []	2038250	\N	\N	EFO	4	EFO	genetic disorder	Genetic posterior fossa malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269557	"" []	2038251	\N	\N	EFO	4	EFO	genetic disorder	Genetic posterior fossa malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269557	"" []	3188574	\N	\N	EFO	5	EFO	disease	Genetic posterior fossa malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269557	"" []	4395627	\N	\N	EFO	6	EFO	disposition	Genetic posterior fossa malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269557	"" []	5413566	\N	\N	EFO	7	EFO	material property	Genetic posterior fossa malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269557	"" []	6150085	\N	\N	EFO	8	EFO	experimental factor	Genetic posterior fossa malformation
Orphanet:269560	\N	\N	"" []	Orphanet:269560	"" []	75519	\N	\N	EFO	0	EFO	Genetic cerebellar malformation	Genetic cerebellar malformation
Orphanet:269557	Orphanet:269560	\N	"" []	Orphanet:269560	"" []	218054	\N	\N	EFO	1	EFO	Genetic posterior fossa malformation	Genetic cerebellar malformation
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:269560	"" []	572962	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Genetic cerebellar malformation
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:269560	"" []	1155446	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Genetic cerebellar malformation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269560	"" []	2038252	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Genetic cerebellar malformation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269560	"" []	2038253	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Genetic cerebellar malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269560	"" []	3188575	\N	\N	EFO	5	EFO	genetic disorder	Genetic cerebellar malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269560	"" []	3188576	\N	\N	EFO	5	EFO	genetic disorder	Genetic cerebellar malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269560	"" []	4395628	\N	\N	EFO	6	EFO	disease	Genetic cerebellar malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269560	"" []	5413567	\N	\N	EFO	7	EFO	disposition	Genetic cerebellar malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269560	"" []	6150086	\N	\N	EFO	8	EFO	material property	Genetic cerebellar malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269560	"" []	6633030	\N	\N	EFO	9	EFO	experimental factor	Genetic cerebellar malformation
Orphanet:269564	\N	\N	"" []	Orphanet:269564	"" []	75520	\N	\N	EFO	0	EFO	Genetic syndrome with a central nervous system malformation as major feature	Genetic syndrome with a central nervous system malformation as major feature
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:269564	"" []	218055	\N	\N	EFO	1	EFO	Genetic central nervous system malformation	Genetic syndrome with a central nervous system malformation as major feature
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269564	"" []	572963	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Genetic syndrome with a central nervous system malformation as major feature
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269564	"" []	572964	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Genetic syndrome with a central nervous system malformation as major feature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269564	"" []	1155447	\N	\N	EFO	3	EFO	genetic disorder	Genetic syndrome with a central nervous system malformation as major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269564	"" []	1155448	\N	\N	EFO	3	EFO	genetic disorder	Genetic syndrome with a central nervous system malformation as major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269564	"" []	2038254	\N	\N	EFO	4	EFO	disease	Genetic syndrome with a central nervous system malformation as major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269564	"" []	3188577	\N	\N	EFO	5	EFO	disposition	Genetic syndrome with a central nervous system malformation as major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269564	"" []	4395629	\N	\N	EFO	6	EFO	material property	Genetic syndrome with a central nervous system malformation as major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269564	"" []	5413568	\N	\N	EFO	7	EFO	experimental factor	Genetic syndrome with a central nervous system malformation as major feature
Orphanet:269567	\N	\N	"" []	Orphanet:269567	"" []	75521	\N	\N	EFO	0	EFO	Genetic syndrome with a cerebellar malformation as major feature	Genetic syndrome with a cerebellar malformation as major feature
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:269567	"" []	218056	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Genetic syndrome with a cerebellar malformation as major feature
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:269567	"" []	572965	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Genetic syndrome with a cerebellar malformation as major feature
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269567	"" []	1155449	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Genetic syndrome with a cerebellar malformation as major feature
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269567	"" []	1155450	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Genetic syndrome with a cerebellar malformation as major feature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269567	"" []	2038255	\N	\N	EFO	4	EFO	genetic disorder	Genetic syndrome with a cerebellar malformation as major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269567	"" []	2038256	\N	\N	EFO	4	EFO	genetic disorder	Genetic syndrome with a cerebellar malformation as major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269567	"" []	3188578	\N	\N	EFO	5	EFO	disease	Genetic syndrome with a cerebellar malformation as major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269567	"" []	4395630	\N	\N	EFO	6	EFO	disposition	Genetic syndrome with a cerebellar malformation as major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269567	"" []	5413569	\N	\N	EFO	7	EFO	material property	Genetic syndrome with a cerebellar malformation as major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269567	"" []	6150087	\N	\N	EFO	8	EFO	experimental factor	Genetic syndrome with a cerebellar malformation as major feature
Orphanet:269570	\N	\N	"" []	Orphanet:269570	"" []	75522	\N	\N	EFO	0	EFO	Genetic syndrome with a Dandy-Walker malformation as major feature	Genetic syndrome with a Dandy-Walker malformation as major feature
Orphanet:269567	Orphanet:269570	\N	"" []	Orphanet:269570	"" []	218057	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Genetic syndrome with a Dandy-Walker malformation as major feature
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:269570	"" []	572966	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Genetic syndrome with a Dandy-Walker malformation as major feature
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:269570	"" []	1155451	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Genetic syndrome with a Dandy-Walker malformation as major feature
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269570	"" []	2038257	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Genetic syndrome with a Dandy-Walker malformation as major feature
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269570	"" []	2038258	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Genetic syndrome with a Dandy-Walker malformation as major feature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269570	"" []	3188579	\N	\N	EFO	5	EFO	genetic disorder	Genetic syndrome with a Dandy-Walker malformation as major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269570	"" []	3188580	\N	\N	EFO	5	EFO	genetic disorder	Genetic syndrome with a Dandy-Walker malformation as major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269570	"" []	4395631	\N	\N	EFO	6	EFO	disease	Genetic syndrome with a Dandy-Walker malformation as major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269570	"" []	5413570	\N	\N	EFO	7	EFO	disposition	Genetic syndrome with a Dandy-Walker malformation as major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269570	"" []	6150088	\N	\N	EFO	8	EFO	material property	Genetic syndrome with a Dandy-Walker malformation as major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269570	"" []	6633031	\N	\N	EFO	9	EFO	experimental factor	Genetic syndrome with a Dandy-Walker malformation as major feature
Orphanet:269573	\N	\N	"" []	Orphanet:269573	"" []	75523	\N	\N	EFO	0	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:269573	"" []	218058	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:269573	"" []	572967	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:269573	"" []	1155452	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:269573	"" []	1155453	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269573	"" []	2038259	\N	\N	EFO	4	EFO	genetic disorder	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:269573	"" []	2038260	\N	\N	EFO	4	EFO	genetic disorder	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:269573	"" []	3188581	\N	\N	EFO	5	EFO	disease	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:269573	"" []	4395632	\N	\N	EFO	6	EFO	disposition	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:269573	"" []	5413571	\N	\N	EFO	7	EFO	material property	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:269573	"" []	6150089	\N	\N	EFO	8	EFO	experimental factor	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
Orphanet:2697	\N	\N	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	75524	\N	\N	EFO	0	EFO	Arthrogryposis - renal dysfunction - cholestasis	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:1037	Orphanet:2697	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	218059	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:281241	Orphanet:2697	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	218060	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with fatal disease course	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:309816	Orphanet:2697	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	218061	\N	\N	EFO	1	EFO	Disorder of bilirubin metabolism and excretion	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:93547	Orphanet:2697	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	218062	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	572968	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:281217	Orphanet:281241	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	572969	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	572970	\N	\N	EFO	2	EFO	Disorder of porphyrin and haem metabolism	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	572971	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	1155454	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	1155455	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	1155456	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	1155457	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	1155458	\N	\N	EFO	3	EFO	Rare genetic renal disease	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	2038261	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	2038262	\N	\N	EFO	4	EFO	Inherited ichthyosis	Arthrogryposis - renal dysfunction - cholestasis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	2038263	\N	\N	EFO	4	EFO	genetic disorder	Arthrogryposis - renal dysfunction - cholestasis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	2038264	\N	\N	EFO	4	EFO	metabolic disease	Arthrogryposis - renal dysfunction - cholestasis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	4395633	\N	\N	EFO	6	EFO	genetic disorder	Arthrogryposis - renal dysfunction - cholestasis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	2038266	\N	\N	EFO	4	EFO	genetic disorder	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	3188582	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	3188583	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Arthrogryposis - renal dysfunction - cholestasis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	6150090	\N	\N	EFO	8	EFO	disease	Arthrogryposis - renal dysfunction - cholestasis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	3188585	\N	\N	EFO	5	EFO	disease	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	4395634	\N	\N	EFO	6	EFO	Rare genetic skin disease	Arthrogryposis - renal dysfunction - cholestasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	6410045	\N	\N	EFO	9	EFO	disposition	Arthrogryposis - renal dysfunction - cholestasis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	5413572	\N	\N	EFO	7	EFO	genetic disorder	Arthrogryposis - renal dysfunction - cholestasis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	5413573	\N	\N	EFO	7	EFO	skin disease	Arthrogryposis - renal dysfunction - cholestasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	6807886	\N	\N	EFO	10	EFO	material property	Arthrogryposis - renal dysfunction - cholestasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	6150091	\N	\N	EFO	8	EFO	disease	Arthrogryposis - renal dysfunction - cholestasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2697	"Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." []	7048650	\N	\N	EFO	11	EFO	experimental factor	Arthrogryposis - renal dysfunction - cholestasis
Orphanet:2698	\N	\N	"" []	Orphanet:2698	"" []	75525	\N	\N	EFO	0	EFO	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Orphanet:90642	Orphanet:2698	\N	"" []	Orphanet:2698	"" []	218063	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Orphanet:98352	Orphanet:2698	\N	"" []	Orphanet:2698	"" []	218064	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2698	"" []	572972	\N	\N	EFO	2	EFO	Rare genetic deafness	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:2698	"" []	572973	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2698	"" []	1155459	\N	\N	EFO	3	EFO	genetic disorder	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2698	"" []	1155460	\N	\N	EFO	3	EFO	auditory system disease	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:2698	"" []	1155461	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2698	"" []	6150093	\N	\N	EFO	8	EFO	disease	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2698	"" []	2038268	\N	\N	EFO	4	EFO	sensory system disease	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:2698	"" []	2038269	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2698	"" []	6378893	\N	\N	EFO	9	EFO	disposition	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2698	"" []	3188587	\N	\N	EFO	5	EFO	nervous system disease	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:2698	"" []	3188588	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2698	"" []	6778689	\N	\N	EFO	10	EFO	material property	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2698	"" []	4395637	\N	\N	EFO	6	EFO	disease	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2698	"" []	4395638	\N	\N	EFO	6	EFO	Rare genetic skin disease	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2698	"" []	7029891	\N	\N	EFO	11	EFO	experimental factor	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2698	"" []	5413577	\N	\N	EFO	7	EFO	genetic disorder	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2698	"" []	5413578	\N	\N	EFO	7	EFO	skin disease	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2698	"" []	6150094	\N	\N	EFO	8	EFO	disease	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Orphanet:2699	\N	\N	"Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." []	Orphanet:2699	"Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." []	75526	\N	\N	EFO	0	EFO	Median nodule of the upper lip	Median nodule of the upper lip
Orphanet:330206	Orphanet:2699	\N	"" []	Orphanet:2699	"Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." []	218065	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Median nodule of the upper lip
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2699	"Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." []	572974	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Median nodule of the upper lip
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2699	"Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." []	1155462	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Median nodule of the upper lip
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2699	"Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." []	2038270	\N	\N	EFO	4	EFO	genetic disorder	Median nodule of the upper lip
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2699	"Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." []	3188589	\N	\N	EFO	5	EFO	disease	Median nodule of the upper lip
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2699	"Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." []	4395639	\N	\N	EFO	6	EFO	disposition	Median nodule of the upper lip
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2699	"Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." []	5413579	\N	\N	EFO	7	EFO	material property	Median nodule of the upper lip
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2699	"Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." []	6150095	\N	\N	EFO	8	EFO	experimental factor	Median nodule of the upper lip
Orphanet:27	\N	\N	" (see these terms)." []	Orphanet:27	" (see these terms)." []	75527	\N	\N	EFO	0	EFO	Vitamin B12-unresponsive methylmalonic acidemia	Vitamin B12-unresponsive methylmalonic acidemia
Orphanet:293355	Orphanet:27	\N	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	Orphanet:27	" (see these terms)." []	218066	\N	\N	EFO	1	EFO	Methylmalonic acidemia without homocystinuria	Vitamin B12-unresponsive methylmalonic acidemia
Orphanet:93593	Orphanet:27	\N	"" []	Orphanet:27	" (see these terms)." []	218067	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Vitamin B12-unresponsive methylmalonic acidemia
Orphanet:79163	Orphanet:293355	\N	"" []	Orphanet:27	" (see these terms)." []	572975	\N	\N	EFO	2	EFO	Classic organic aciduria	Vitamin B12-unresponsive methylmalonic acidemia
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:27	" (see these terms)." []	572976	\N	\N	EFO	2	EFO	Rare genetic renal disease	Vitamin B12-unresponsive methylmalonic acidemia
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:27	" (see these terms)." []	1155463	\N	\N	EFO	3	EFO	Organic aciduria	Vitamin B12-unresponsive methylmalonic acidemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:27	" (see these terms)." []	1155464	\N	\N	EFO	3	EFO	genetic disorder	Vitamin B12-unresponsive methylmalonic acidemia
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:27	" (see these terms)." []	2038271	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Vitamin B12-unresponsive methylmalonic acidemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:27	" (see these terms)." []	5413580	\N	\N	EFO	7	EFO	disease	Vitamin B12-unresponsive methylmalonic acidemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:27	" (see these terms)." []	3188590	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Vitamin B12-unresponsive methylmalonic acidemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:27	" (see these terms)." []	5817638	\N	\N	EFO	8	EFO	disposition	Vitamin B12-unresponsive methylmalonic acidemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:27	" (see these terms)." []	4395640	\N	\N	EFO	6	EFO	genetic disorder	Vitamin B12-unresponsive methylmalonic acidemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:27	" (see these terms)." []	4395641	\N	\N	EFO	6	EFO	metabolic disease	Vitamin B12-unresponsive methylmalonic acidemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:27	" (see these terms)." []	6410046	\N	\N	EFO	9	EFO	material property	Vitamin B12-unresponsive methylmalonic acidemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:27	" (see these terms)." []	5413581	\N	\N	EFO	7	EFO	disease	Vitamin B12-unresponsive methylmalonic acidemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:27	" (see these terms)." []	6807887	\N	\N	EFO	10	EFO	experimental factor	Vitamin B12-unresponsive methylmalonic acidemia
Orphanet:270	\N	\N	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	75528	\N	\N	EFO	0	EFO	Oculopharyngeal muscular dystrophy	Oculopharyngeal muscular dystrophy
Orphanet:206644	Orphanet:270	\N	"" []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	218068	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	Oculopharyngeal muscular dystrophy
Orphanet:98578	Orphanet:270	\N	"" []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	218069	\N	\N	EFO	1	EFO	Ptosis	Oculopharyngeal muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	572977	\N	\N	EFO	2	EFO	Muscular dystrophy	Oculopharyngeal muscular dystrophy
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	572978	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Oculopharyngeal muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	1155465	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Oculopharyngeal muscular dystrophy
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	1155466	\N	\N	EFO	3	EFO	Rare palpebral disease	Oculopharyngeal muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	2038273	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Oculopharyngeal muscular dystrophy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	2038274	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Oculopharyngeal muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	3188592	\N	\N	EFO	5	EFO	muscular disease	Oculopharyngeal muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	3188593	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Oculopharyngeal muscular dystrophy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	3188594	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oculopharyngeal muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	4395643	\N	\N	EFO	6	EFO	skeletal system disease	Oculopharyngeal muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	4395644	\N	\N	EFO	6	EFO	genetic disorder	Oculopharyngeal muscular dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	4395645	\N	\N	EFO	6	EFO	genetic disorder	Oculopharyngeal muscular dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	4395646	\N	\N	EFO	6	EFO	eye disease	Oculopharyngeal muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	5413583	\N	\N	EFO	7	EFO	disease	Oculopharyngeal muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	5413584	\N	\N	EFO	7	EFO	disease	Oculopharyngeal muscular dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	5413585	\N	\N	EFO	7	EFO	disease	Oculopharyngeal muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	6150096	\N	\N	EFO	8	EFO	disposition	Oculopharyngeal muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	6633032	\N	\N	EFO	9	EFO	material property	Oculopharyngeal muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:270	"Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." []	6925817	\N	\N	EFO	10	EFO	experimental factor	Oculopharyngeal muscular dystrophy
Orphanet:2701	\N	\N	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	75529	\N	\N	EFO	0	EFO	Noonan syndrome-like disorder with loose anagen hair	Noonan syndrome-like disorder with loose anagen hair
Orphanet:108987	Orphanet:2701	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	218070	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Noonan syndrome-like disorder with loose anagen hair
Orphanet:330197	Orphanet:2701	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	218071	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Noonan syndrome-like disorder with loose anagen hair
Orphanet:79364	Orphanet:2701	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	218072	\N	\N	EFO	1	EFO	Alopecia	Noonan syndrome-like disorder with loose anagen hair
Orphanet:98733	Orphanet:2701	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	218073	\N	\N	EFO	1	EFO	Noonan syndrome and Noonan-related syndrome	Noonan syndrome-like disorder with loose anagen hair
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	572979	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Noonan syndrome-like disorder with loose anagen hair
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	572980	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Noonan syndrome-like disorder with loose anagen hair
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	572981	\N	\N	EFO	2	EFO	Genetic hair anomaly	Noonan syndrome-like disorder with loose anagen hair
Orphanet:183570	Orphanet:98733	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	572982	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Noonan syndrome-like disorder with loose anagen hair
Orphanet:217595	Orphanet:98733	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	572983	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	Noonan syndrome-like disorder with loose anagen hair
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	1155467	\N	\N	EFO	3	EFO	Rare genetic eye disease	Noonan syndrome-like disorder with loose anagen hair
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	1155468	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Noonan syndrome-like disorder with loose anagen hair
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	1155469	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Noonan syndrome-like disorder with loose anagen hair
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	1155470	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Noonan syndrome-like disorder with loose anagen hair
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	1155471	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Noonan syndrome-like disorder with loose anagen hair
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	1155472	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Noonan syndrome-like disorder with loose anagen hair
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	2038275	\N	\N	EFO	4	EFO	genetic disorder	Noonan syndrome-like disorder with loose anagen hair
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	2038276	\N	\N	EFO	4	EFO	eye disease	Noonan syndrome-like disorder with loose anagen hair
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	2038277	\N	\N	EFO	4	EFO	genetic disorder	Noonan syndrome-like disorder with loose anagen hair
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	2038278	\N	\N	EFO	4	EFO	Rare genetic skin disease	Noonan syndrome-like disorder with loose anagen hair
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	2038279	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Noonan syndrome-like disorder with loose anagen hair
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	4395648	\N	\N	EFO	6	EFO	disease	Noonan syndrome-like disorder with loose anagen hair
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	3188596	\N	\N	EFO	5	EFO	disease	Noonan syndrome-like disorder with loose anagen hair
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	3188597	\N	\N	EFO	5	EFO	genetic disorder	Noonan syndrome-like disorder with loose anagen hair
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	3188598	\N	\N	EFO	5	EFO	skin disease	Noonan syndrome-like disorder with loose anagen hair
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	3188599	\N	\N	EFO	5	EFO	genetic disorder	Noonan syndrome-like disorder with loose anagen hair
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	3188600	\N	\N	EFO	5	EFO	heart disease	Noonan syndrome-like disorder with loose anagen hair
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	6150098	\N	\N	EFO	8	EFO	disposition	Noonan syndrome-like disorder with loose anagen hair
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	4395649	\N	\N	EFO	6	EFO	disease	Noonan syndrome-like disorder with loose anagen hair
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	4395650	\N	\N	EFO	6	EFO	cardiovascular disease	Noonan syndrome-like disorder with loose anagen hair
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	6470376	\N	\N	EFO	9	EFO	material property	Noonan syndrome-like disorder with loose anagen hair
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	5413587	\N	\N	EFO	7	EFO	disease	Noonan syndrome-like disorder with loose anagen hair
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2701	"Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays." []	6848498	\N	\N	EFO	10	EFO	experimental factor	Noonan syndrome-like disorder with loose anagen hair
Orphanet:2704	\N	\N	"" []	Orphanet:2704	"" []	75530	\N	\N	EFO	0	EFO	Ochoa syndrome	Ochoa syndrome
Orphanet:93547	Orphanet:2704	\N	"" []	Orphanet:2704	"" []	218074	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Ochoa syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2704	"" []	572984	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Ochoa syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2704	"" []	1155473	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ochoa syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2704	"" []	1155474	\N	\N	EFO	3	EFO	Rare genetic renal disease	Ochoa syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2704	"" []	2038280	\N	\N	EFO	4	EFO	genetic disorder	Ochoa syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2704	"" []	2038281	\N	\N	EFO	4	EFO	genetic disorder	Ochoa syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2704	"" []	3188601	\N	\N	EFO	5	EFO	disease	Ochoa syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2704	"" []	4395651	\N	\N	EFO	6	EFO	disposition	Ochoa syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2704	"" []	5413588	\N	\N	EFO	7	EFO	material property	Ochoa syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2704	"" []	6150099	\N	\N	EFO	8	EFO	experimental factor	Ochoa syndrome
Orphanet:2707	\N	\N	"" []	Orphanet:2707	"" []	75531	\N	\N	EFO	0	EFO	Oculocerebrofacial syndrome, Kaufman type	Oculocerebrofacial syndrome, Kaufman type
Orphanet:102283	Orphanet:2707	\N	"" []	Orphanet:2707	"" []	218075	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Oculocerebrofacial syndrome, Kaufman type
Orphanet:108987	Orphanet:2707	\N	"" []	Orphanet:2707	"" []	218076	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Oculocerebrofacial syndrome, Kaufman type
Orphanet:183763	Orphanet:2707	\N	"" []	Orphanet:2707	"" []	218077	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Oculocerebrofacial syndrome, Kaufman type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2707	"" []	572985	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Oculocerebrofacial syndrome, Kaufman type
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2707	"" []	572986	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Oculocerebrofacial syndrome, Kaufman type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2707	"" []	572987	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Oculocerebrofacial syndrome, Kaufman type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2707	"" []	1155475	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculocerebrofacial syndrome, Kaufman type
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2707	"" []	1155476	\N	\N	EFO	3	EFO	Rare genetic eye disease	Oculocerebrofacial syndrome, Kaufman type
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2707	"" []	1155477	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculocerebrofacial syndrome, Kaufman type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2707	"" []	1155478	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Oculocerebrofacial syndrome, Kaufman type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2707	"" []	2038282	\N	\N	EFO	4	EFO	genetic disorder	Oculocerebrofacial syndrome, Kaufman type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2707	"" []	2038283	\N	\N	EFO	4	EFO	genetic disorder	Oculocerebrofacial syndrome, Kaufman type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2707	"" []	2038284	\N	\N	EFO	4	EFO	eye disease	Oculocerebrofacial syndrome, Kaufman type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2707	"" []	2038285	\N	\N	EFO	4	EFO	genetic disorder	Oculocerebrofacial syndrome, Kaufman type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2707	"" []	3188602	\N	\N	EFO	5	EFO	disease	Oculocerebrofacial syndrome, Kaufman type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2707	"" []	3188603	\N	\N	EFO	5	EFO	disease	Oculocerebrofacial syndrome, Kaufman type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2707	"" []	4395652	\N	\N	EFO	6	EFO	disposition	Oculocerebrofacial syndrome, Kaufman type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2707	"" []	5413589	\N	\N	EFO	7	EFO	material property	Oculocerebrofacial syndrome, Kaufman type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2707	"" []	6150100	\N	\N	EFO	8	EFO	experimental factor	Oculocerebrofacial syndrome, Kaufman type
Orphanet:2709	\N	\N	"" []	Orphanet:2709	"" []	75532	\N	\N	EFO	0	EFO	Oculodental syndrome, Rutherfurd type	Oculodental syndrome, Rutherfurd type
Orphanet:183580	Orphanet:2709	\N	"" []	Orphanet:2709	"" []	218078	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Oculodental syndrome, Rutherfurd type
Orphanet:98628	Orphanet:2709	\N	"" []	Orphanet:2709	"" []	218079	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	Oculodental syndrome, Rutherfurd type
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2709	"" []	572988	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Oculodental syndrome, Rutherfurd type
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:2709	"" []	572989	\N	\N	EFO	2	EFO	Corneal dystrophy	Oculodental syndrome, Rutherfurd type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2709	"" []	1155479	\N	\N	EFO	3	EFO	genetic disorder	Oculodental syndrome, Rutherfurd type
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:2709	"" []	1155480	\N	\N	EFO	3	EFO	Rare genetic eye disease	Oculodental syndrome, Rutherfurd type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2709	"" []	3188605	\N	\N	EFO	5	EFO	disease	Oculodental syndrome, Rutherfurd type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2709	"" []	2038287	\N	\N	EFO	4	EFO	genetic disorder	Oculodental syndrome, Rutherfurd type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2709	"" []	2038288	\N	\N	EFO	4	EFO	eye disease	Oculodental syndrome, Rutherfurd type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2709	"" []	4133723	\N	\N	EFO	6	EFO	disposition	Oculodental syndrome, Rutherfurd type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2709	"" []	3188606	\N	\N	EFO	5	EFO	disease	Oculodental syndrome, Rutherfurd type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2709	"" []	5182294	\N	\N	EFO	7	EFO	material property	Oculodental syndrome, Rutherfurd type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2709	"" []	5997650	\N	\N	EFO	8	EFO	experimental factor	Oculodental syndrome, Rutherfurd type
Orphanet:2710	\N	\N	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	75533	\N	\N	EFO	0	EFO	Oculodentodigital dysplasia	Oculodentodigital dysplasia
Orphanet:183580	Orphanet:2710	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	218080	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Oculodentodigital dysplasia
Orphanet:330197	Orphanet:2710	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	218081	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Oculodentodigital dysplasia
Orphanet:79373	Orphanet:2710	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	218082	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Oculodentodigital dysplasia
Orphanet:93444	Orphanet:2710	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	218083	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Oculodentodigital dysplasia
Orphanet:98709	Orphanet:2710	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	218084	\N	\N	EFO	1	EFO	Ectodermal malformation syndrome associated with ocular features	Oculodentodigital dysplasia
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	572990	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Oculodentodigital dysplasia
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	572991	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Oculodentodigital dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	572992	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Oculodentodigital dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	572993	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Oculodentodigital dysplasia
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	572994	\N	\N	EFO	2	EFO	Primary bone dysplasia	Oculodentodigital dysplasia
Orphanet:101435	Orphanet:98709	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	572995	\N	\N	EFO	2	EFO	Rare genetic eye disease	Oculodentodigital dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	3188610	\N	\N	EFO	5	EFO	genetic disorder	Oculodentodigital dysplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	1155482	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculodentodigital dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	1155483	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculodentodigital dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	1155484	\N	\N	EFO	3	EFO	Rare genetic skin disease	Oculodentodigital dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	1155485	\N	\N	EFO	3	EFO	Rare genetic bone disease	Oculodentodigital dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	1155486	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Oculodentodigital dysplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	1155487	\N	\N	EFO	3	EFO	genetic disorder	Oculodentodigital dysplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	1155488	\N	\N	EFO	3	EFO	eye disease	Oculodentodigital dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	4066905	\N	\N	EFO	6	EFO	disease	Oculodentodigital dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	2038291	\N	\N	EFO	4	EFO	genetic disorder	Oculodentodigital dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	2038292	\N	\N	EFO	4	EFO	skin disease	Oculodentodigital dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	2038293	\N	\N	EFO	4	EFO	genetic disorder	Oculodentodigital dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	2038294	\N	\N	EFO	4	EFO	bone disease	Oculodentodigital dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	2038295	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Oculodentodigital dysplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	2038296	\N	\N	EFO	4	EFO	disease	Oculodentodigital dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	5059862	\N	\N	EFO	7	EFO	disposition	Oculodentodigital dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	3188608	\N	\N	EFO	5	EFO	disease	Oculodentodigital dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	3188609	\N	\N	EFO	5	EFO	skeletal system disease	Oculodentodigital dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	5877156	\N	\N	EFO	8	EFO	material property	Oculodentodigital dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	4395655	\N	\N	EFO	6	EFO	disease	Oculodentodigital dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2710	"Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." []	6470377	\N	\N	EFO	9	EFO	experimental factor	Oculodentodigital dysplasia
Orphanet:2712	\N	\N	"" []	Orphanet:2712	"" []	75534	\N	\N	EFO	0	EFO	Oculofaciocardiodental syndrome	Oculofaciocardiodental syndrome
Orphanet:102283	Orphanet:2712	\N	"" []	Orphanet:2712	"" []	218085	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Oculofaciocardiodental syndrome
Orphanet:108987	Orphanet:2712	\N	"" []	Orphanet:2712	"" []	218086	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Oculofaciocardiodental syndrome
Orphanet:183580	Orphanet:2712	\N	"" []	Orphanet:2712	"" []	218087	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Oculofaciocardiodental syndrome
Orphanet:202948	Orphanet:2712	\N	"" []	Orphanet:2712	"" []	218088	\N	\N	EFO	1	EFO	Syndromic microphthalmia	Oculofaciocardiodental syndrome
Orphanet:98464	Orphanet:2712	\N	"" []	Orphanet:2712	"" []	218089	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Oculofaciocardiodental syndrome
Orphanet:98638	Orphanet:2712	\N	"" []	Orphanet:2712	"" []	218090	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Oculofaciocardiodental syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2712	"" []	572996	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Oculofaciocardiodental syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2712	"" []	572997	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Oculofaciocardiodental syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2712	"" []	572998	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Oculofaciocardiodental syndrome
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:2712	"" []	572999	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Oculofaciocardiodental syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2712	"" []	573000	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Oculofaciocardiodental syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:2712	"" []	573001	\N	\N	EFO	2	EFO	Rare genetic eye disease	Oculofaciocardiodental syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2712	"" []	1155489	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculofaciocardiodental syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2712	"" []	3188612	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oculofaciocardiodental syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2712	"" []	3188613	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Oculofaciocardiodental syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2712	"" []	4066908	\N	\N	EFO	6	EFO	genetic disorder	Oculofaciocardiodental syndrome
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:2712	"" []	1155493	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Oculofaciocardiodental syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2712	"" []	1155494	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Oculofaciocardiodental syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2712	"" []	4066906	\N	\N	EFO	6	EFO	genetic disorder	Oculofaciocardiodental syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2712	"" []	4066907	\N	\N	EFO	6	EFO	eye disease	Oculofaciocardiodental syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2712	"" []	5028430	\N	\N	EFO	7	EFO	disease	Oculofaciocardiodental syndrome
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:2712	"" []	2038301	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Oculofaciocardiodental syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2712	"" []	2038302	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Oculofaciocardiodental syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2712	"" []	5028431	\N	\N	EFO	7	EFO	disease	Oculofaciocardiodental syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2712	"" []	5817639	\N	\N	EFO	8	EFO	disposition	Oculofaciocardiodental syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2712	"" []	3188614	\N	\N	EFO	5	EFO	genetic disorder	Oculofaciocardiodental syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2712	"" []	6410047	\N	\N	EFO	9	EFO	material property	Oculofaciocardiodental syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2712	"" []	6807888	\N	\N	EFO	10	EFO	experimental factor	Oculofaciocardiodental syndrome
Orphanet:2713	\N	\N	"" []	Orphanet:2713	"" []	75535	\N	\N	EFO	0	EFO	Oculoosteocutaneous syndrome	Oculoosteocutaneous syndrome
Orphanet:79373	Orphanet:2713	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2713	"" []	218091	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Oculoosteocutaneous syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2713	"" []	573002	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Oculoosteocutaneous syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2713	"" []	573003	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Oculoosteocutaneous syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2713	"" []	1155497	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculoosteocutaneous syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2713	"" []	1155498	\N	\N	EFO	3	EFO	Rare genetic skin disease	Oculoosteocutaneous syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2713	"" []	2038304	\N	\N	EFO	4	EFO	genetic disorder	Oculoosteocutaneous syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2713	"" []	2038305	\N	\N	EFO	4	EFO	genetic disorder	Oculoosteocutaneous syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2713	"" []	2038306	\N	\N	EFO	4	EFO	skin disease	Oculoosteocutaneous syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2713	"" []	3188615	\N	\N	EFO	5	EFO	disease	Oculoosteocutaneous syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2713	"" []	3188616	\N	\N	EFO	5	EFO	disease	Oculoosteocutaneous syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2713	"" []	4395658	\N	\N	EFO	6	EFO	disposition	Oculoosteocutaneous syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2713	"" []	5413593	\N	\N	EFO	7	EFO	material property	Oculoosteocutaneous syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2713	"" []	6150101	\N	\N	EFO	8	EFO	experimental factor	Oculoosteocutaneous syndrome
Orphanet:2714	\N	\N	"" []	Orphanet:2714	"" []	75536	\N	\N	EFO	0	EFO	Oculo-palato-cerebral syndrome	Oculo-palato-cerebral syndrome
Orphanet:102283	Orphanet:2714	\N	"" []	Orphanet:2714	"" []	218092	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Oculo-palato-cerebral syndrome
Orphanet:139039	Orphanet:2714	\N	"" []	Orphanet:2714	"" []	218093	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Oculo-palato-cerebral syndrome
Orphanet:183763	Orphanet:2714	\N	"" []	Orphanet:2714	"" []	218094	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Oculo-palato-cerebral syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2714	"" []	573004	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Oculo-palato-cerebral syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2714	"" []	573005	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Oculo-palato-cerebral syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2714	"" []	573006	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Oculo-palato-cerebral syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2714	"" []	1155499	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculo-palato-cerebral syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2714	"" []	1155500	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Oculo-palato-cerebral syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2714	"" []	1155501	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Oculo-palato-cerebral syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2714	"" []	4395660	\N	\N	EFO	6	EFO	genetic disorder	Oculo-palato-cerebral syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2714	"" []	2038308	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Oculo-palato-cerebral syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2714	"" []	2038309	\N	\N	EFO	4	EFO	genetic disorder	Oculo-palato-cerebral syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2714	"" []	5059864	\N	\N	EFO	7	EFO	disease	Oculo-palato-cerebral syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2714	"" []	3188618	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Oculo-palato-cerebral syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2714	"" []	5877158	\N	\N	EFO	8	EFO	disposition	Oculo-palato-cerebral syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2714	"" []	6470379	\N	\N	EFO	9	EFO	material property	Oculo-palato-cerebral syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2714	"" []	6848499	\N	\N	EFO	10	EFO	experimental factor	Oculo-palato-cerebral syndrome
Orphanet:2716	\N	\N	"" []	Orphanet:2716	"" []	75537	\N	\N	EFO	0	EFO	Oculo-skeletal-renal syndrome	Oculo-skeletal-renal syndrome
Orphanet:93547	Orphanet:2716	\N	"" []	Orphanet:2716	"" []	218095	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Oculo-skeletal-renal syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2716	"" []	573007	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Oculo-skeletal-renal syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2716	"" []	1155502	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculo-skeletal-renal syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2716	"" []	1155503	\N	\N	EFO	3	EFO	Rare genetic renal disease	Oculo-skeletal-renal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2716	"" []	2038310	\N	\N	EFO	4	EFO	genetic disorder	Oculo-skeletal-renal syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2716	"" []	2038311	\N	\N	EFO	4	EFO	genetic disorder	Oculo-skeletal-renal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2716	"" []	3188619	\N	\N	EFO	5	EFO	disease	Oculo-skeletal-renal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2716	"" []	4395661	\N	\N	EFO	6	EFO	disposition	Oculo-skeletal-renal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2716	"" []	5413595	\N	\N	EFO	7	EFO	material property	Oculo-skeletal-renal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2716	"" []	6150103	\N	\N	EFO	8	EFO	experimental factor	Oculo-skeletal-renal syndrome
Orphanet:2717	\N	\N	"" []	Orphanet:2717	"" []	75538	\N	\N	EFO	0	EFO	Oculotrichoanal syndrome	Oculotrichoanal syndrome
Orphanet:330197	Orphanet:2717	\N	"" []	Orphanet:2717	"" []	218096	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Oculotrichoanal syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2717	"" []	573008	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Oculotrichoanal syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2717	"" []	1155504	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculotrichoanal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2717	"" []	2038312	\N	\N	EFO	4	EFO	genetic disorder	Oculotrichoanal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2717	"" []	3188620	\N	\N	EFO	5	EFO	disease	Oculotrichoanal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2717	"" []	4395662	\N	\N	EFO	6	EFO	disposition	Oculotrichoanal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2717	"" []	5413596	\N	\N	EFO	7	EFO	material property	Oculotrichoanal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2717	"" []	6150104	\N	\N	EFO	8	EFO	experimental factor	Oculotrichoanal syndrome
Orphanet:2718	\N	\N	"" []	Orphanet:2718	"" []	75539	\N	\N	EFO	0	EFO	Oculotrichodysplasia	Oculotrichodysplasia
Orphanet:79373	Orphanet:2718	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2718	"" []	218097	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Oculotrichodysplasia
Orphanet:98661	Orphanet:2718	\N	"" []	Orphanet:2718	"" []	218098	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Oculotrichodysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2718	"" []	573009	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Oculotrichodysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2718	"" []	573010	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Oculotrichodysplasia
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:2718	"" []	573011	\N	\N	EFO	2	EFO	Retinal dystrophy	Oculotrichodysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2718	"" []	1155505	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculotrichodysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2718	"" []	1155506	\N	\N	EFO	3	EFO	Rare genetic skin disease	Oculotrichodysplasia
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:2718	"" []	1155507	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Oculotrichodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2718	"" []	2038313	\N	\N	EFO	4	EFO	genetic disorder	Oculotrichodysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2718	"" []	2038314	\N	\N	EFO	4	EFO	genetic disorder	Oculotrichodysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2718	"" []	2038315	\N	\N	EFO	4	EFO	skin disease	Oculotrichodysplasia
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:2718	"" []	2038316	\N	\N	EFO	4	EFO	Rare genetic eye disease	Oculotrichodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2718	"" []	4395664	\N	\N	EFO	6	EFO	disease	Oculotrichodysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2718	"" []	3188622	\N	\N	EFO	5	EFO	disease	Oculotrichodysplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2718	"" []	3188623	\N	\N	EFO	5	EFO	genetic disorder	Oculotrichodysplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2718	"" []	3188624	\N	\N	EFO	5	EFO	eye disease	Oculotrichodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2718	"" []	5182297	\N	\N	EFO	7	EFO	disposition	Oculotrichodysplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2718	"" []	4395665	\N	\N	EFO	6	EFO	disease	Oculotrichodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2718	"" []	5997653	\N	\N	EFO	8	EFO	material property	Oculotrichodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2718	"" []	6550998	\N	\N	EFO	9	EFO	experimental factor	Oculotrichodysplasia
Orphanet:271832	\N	\N	"" []	Orphanet:271832	"" []	75540	\N	\N	EFO	0	EFO	Genetic soft tissue tumor	Genetic soft tissue tumor
Orphanet:68336	Orphanet:271832	\N	"" []	Orphanet:271832	"" []	218099	\N	\N	EFO	1	EFO	Rare genetic tumor	Genetic soft tissue tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:271832	"" []	573012	\N	\N	EFO	2	EFO	genetic disorder	Genetic soft tissue tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:271832	"" []	573013	\N	\N	EFO	2	EFO	neoplasm	Genetic soft tissue tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271832	"" []	1155508	\N	\N	EFO	3	EFO	disease	Genetic soft tissue tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271832	"" []	1155509	\N	\N	EFO	3	EFO	disease	Genetic soft tissue tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:271832	"" []	2038317	\N	\N	EFO	4	EFO	disposition	Genetic soft tissue tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:271832	"" []	3188625	\N	\N	EFO	5	EFO	material property	Genetic soft tissue tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:271832	"" []	4395666	\N	\N	EFO	6	EFO	experimental factor	Genetic soft tissue tumor
Orphanet:271835	\N	\N	"" []	Orphanet:271835	"" []	75541	\N	\N	EFO	0	EFO	Genetic digestive tract tumor	Genetic digestive tract tumor
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:271835	"" []	218100	\N	\N	EFO	1	EFO	digestive system disease	Genetic digestive tract tumor
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:271835	"" []	218101	\N	\N	EFO	1	EFO	Rare genetic tumor	Genetic digestive tract tumor
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271835	"" []	573014	\N	\N	EFO	2	EFO	disease	Genetic digestive tract tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:271835	"" []	573015	\N	\N	EFO	2	EFO	genetic disorder	Genetic digestive tract tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:271835	"" []	573016	\N	\N	EFO	2	EFO	neoplasm	Genetic digestive tract tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:271835	"" []	2038319	\N	\N	EFO	4	EFO	disposition	Genetic digestive tract tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271835	"" []	1155511	\N	\N	EFO	3	EFO	disease	Genetic digestive tract tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271835	"" []	1155512	\N	\N	EFO	3	EFO	disease	Genetic digestive tract tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:271835	"" []	3000267	\N	\N	EFO	5	EFO	material property	Genetic digestive tract tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:271835	"" []	4133726	\N	\N	EFO	6	EFO	experimental factor	Genetic digestive tract tumor
Orphanet:271841	\N	\N	"" []	Orphanet:271841	"" []	75542	\N	\N	EFO	0	EFO	Genetic cardiac tumor	Genetic cardiac tumor
EFO:0003777	Orphanet:271841	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:271841	"" []	218102	\N	\N	EFO	1	EFO	heart disease	Genetic cardiac tumor
Orphanet:68336	Orphanet:271841	\N	"" []	Orphanet:271841	"" []	218103	\N	\N	EFO	1	EFO	Rare genetic tumor	Genetic cardiac tumor
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:271841	"" []	573017	\N	\N	EFO	2	EFO	cardiovascular disease	Genetic cardiac tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:271841	"" []	573018	\N	\N	EFO	2	EFO	genetic disorder	Genetic cardiac tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:271841	"" []	573019	\N	\N	EFO	2	EFO	neoplasm	Genetic cardiac tumor
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271841	"" []	1155513	\N	\N	EFO	3	EFO	disease	Genetic cardiac tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271841	"" []	1155514	\N	\N	EFO	3	EFO	disease	Genetic cardiac tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271841	"" []	1155515	\N	\N	EFO	3	EFO	disease	Genetic cardiac tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:271841	"" []	2038320	\N	\N	EFO	4	EFO	disposition	Genetic cardiac tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:271841	"" []	3188627	\N	\N	EFO	5	EFO	material property	Genetic cardiac tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:271841	"" []	4395667	\N	\N	EFO	6	EFO	experimental factor	Genetic cardiac tumor
Orphanet:271844	\N	\N	"" []	Orphanet:271844	"" []	75543	\N	\N	EFO	0	EFO	Genetic urogenital tumor	Genetic urogenital tumor
EFO:0003863	Orphanet:271844	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:271844	"" []	218104	\N	\N	EFO	1	EFO	urogenital neoplasm	Genetic urogenital tumor
Orphanet:68336	Orphanet:271844	\N	"" []	Orphanet:271844	"" []	218105	\N	\N	EFO	1	EFO	Rare genetic tumor	Genetic urogenital tumor
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:271844	"" []	573020	\N	\N	EFO	2	EFO	neoplasm	Genetic urogenital tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:271844	"" []	573021	\N	\N	EFO	2	EFO	genetic disorder	Genetic urogenital tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:271844	"" []	573022	\N	\N	EFO	2	EFO	neoplasm	Genetic urogenital tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271844	"" []	1155516	\N	\N	EFO	3	EFO	disease	Genetic urogenital tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271844	"" []	1155517	\N	\N	EFO	3	EFO	disease	Genetic urogenital tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:271844	"" []	2038321	\N	\N	EFO	4	EFO	disposition	Genetic urogenital tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:271844	"" []	3188628	\N	\N	EFO	5	EFO	material property	Genetic urogenital tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:271844	"" []	4395668	\N	\N	EFO	6	EFO	experimental factor	Genetic urogenital tumor
Orphanet:271847	\N	\N	"" []	Orphanet:271847	"" []	75544	\N	\N	EFO	0	EFO	Genetic endocrine tumor	Genetic endocrine tumor
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:271847	"" []	218106	\N	\N	EFO	1	EFO	endocrine neoplasm	Genetic endocrine tumor
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:271847	"" []	218107	\N	\N	EFO	1	EFO	Rare genetic tumor	Genetic endocrine tumor
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:271847	"" []	573023	\N	\N	EFO	2	EFO	neoplasm	Genetic endocrine tumor
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:271847	"" []	573024	\N	\N	EFO	2	EFO	endocrine system disease	Genetic endocrine tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:271847	"" []	573025	\N	\N	EFO	2	EFO	genetic disorder	Genetic endocrine tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:271847	"" []	573026	\N	\N	EFO	2	EFO	neoplasm	Genetic endocrine tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271847	"" []	1155518	\N	\N	EFO	3	EFO	disease	Genetic endocrine tumor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271847	"" []	1155519	\N	\N	EFO	3	EFO	disease	Genetic endocrine tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271847	"" []	1155520	\N	\N	EFO	3	EFO	disease	Genetic endocrine tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:271847	"" []	2038322	\N	\N	EFO	4	EFO	disposition	Genetic endocrine tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:271847	"" []	3188629	\N	\N	EFO	5	EFO	material property	Genetic endocrine tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:271847	"" []	4395669	\N	\N	EFO	6	EFO	experimental factor	Genetic endocrine tumor
Orphanet:271853	\N	\N	"" []	Orphanet:271853	"" []	75545	\N	\N	EFO	0	EFO	Genetic cardiac anomaly	Genetic cardiac anomaly
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:271853	"" []	218108	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic cardiac anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:271853	"" []	573027	\N	\N	EFO	2	EFO	genetic disorder	Genetic cardiac anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271853	"" []	1155521	\N	\N	EFO	3	EFO	disease	Genetic cardiac anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:271853	"" []	2038323	\N	\N	EFO	4	EFO	disposition	Genetic cardiac anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:271853	"" []	3188630	\N	\N	EFO	5	EFO	material property	Genetic cardiac anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:271853	"" []	4395670	\N	\N	EFO	6	EFO	experimental factor	Genetic cardiac anomaly
Orphanet:271861	\N	\N	"" []	Orphanet:271861	"" []	75546	\N	\N	EFO	0	EFO	Familial transthyretin-related amyloidosis	Familial transthyretin-related amyloidosis
EFO:1001875	Orphanet:271861	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	Orphanet:271861	"" []	218109	\N	\N	EFO	1	EFO	amyloidosis	Familial transthyretin-related amyloidosis
Orphanet:271870	Orphanet:271861	\N	"" []	Orphanet:271861	"" []	218110	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	Familial transthyretin-related amyloidosis
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	Orphanet:271861	"" []	573028	\N	\N	EFO	2	EFO	acquired metabolic disease	Familial transthyretin-related amyloidosis
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:271861	"" []	573029	\N	\N	EFO	2	EFO	genetic disorder	Familial transthyretin-related amyloidosis
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:271861	"" []	1155522	\N	\N	EFO	3	EFO	metabolic disease	Familial transthyretin-related amyloidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271861	"" []	1155523	\N	\N	EFO	3	EFO	disease	Familial transthyretin-related amyloidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271861	"" []	2038324	\N	\N	EFO	4	EFO	disease	Familial transthyretin-related amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:271861	"" []	3188631	\N	\N	EFO	5	EFO	disposition	Familial transthyretin-related amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:271861	"" []	4133727	\N	\N	EFO	6	EFO	material property	Familial transthyretin-related amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:271861	"" []	5182298	\N	\N	EFO	7	EFO	experimental factor	Familial transthyretin-related amyloidosis
Orphanet:271870	\N	\N	"" []	Orphanet:271870	"" []	75547	\N	\N	EFO	0	EFO	Rare genetic systemic or rheumatologic disease	Rare genetic systemic or rheumatologic disease
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:271870	"" []	218111	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic systemic or rheumatologic disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:271870	"" []	573030	\N	\N	EFO	2	EFO	disease	Rare genetic systemic or rheumatologic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:271870	"" []	1155524	\N	\N	EFO	3	EFO	disposition	Rare genetic systemic or rheumatologic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:271870	"" []	2038326	\N	\N	EFO	4	EFO	material property	Rare genetic systemic or rheumatologic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:271870	"" []	3188633	\N	\N	EFO	5	EFO	experimental factor	Rare genetic systemic or rheumatologic disease
Orphanet:2719	\N	\N	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	75548	\N	\N	EFO	0	EFO	Oculocerebral hypopigmentation syndrome, Cross type	Oculocerebral hypopigmentation syndrome, Cross type
Orphanet:183580	Orphanet:2719	\N	"" []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	218112	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Oculocerebral hypopigmentation syndrome, Cross type
Orphanet:284811	Orphanet:2719	\N	"" []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	218113	\N	\N	EFO	1	EFO	Syndromic oculocutaneous albinism	Oculocerebral hypopigmentation syndrome, Cross type
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	573031	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Oculocerebral hypopigmentation syndrome, Cross type
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	573032	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Oculocerebral hypopigmentation syndrome, Cross type
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	573033	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Oculocerebral hypopigmentation syndrome, Cross type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	1155525	\N	\N	EFO	3	EFO	genetic disorder	Oculocerebral hypopigmentation syndrome, Cross type
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	1155526	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Oculocerebral hypopigmentation syndrome, Cross type
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	1155527	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Oculocerebral hypopigmentation syndrome, Cross type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	5413599	\N	\N	EFO	7	EFO	disease	Oculocerebral hypopigmentation syndrome, Cross type
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	2038328	\N	\N	EFO	4	EFO	Rare genetic skin disease	Oculocerebral hypopigmentation syndrome, Cross type
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	2038329	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Oculocerebral hypopigmentation syndrome, Cross type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	5817640	\N	\N	EFO	8	EFO	disposition	Oculocerebral hypopigmentation syndrome, Cross type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	3188635	\N	\N	EFO	5	EFO	genetic disorder	Oculocerebral hypopigmentation syndrome, Cross type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	3188636	\N	\N	EFO	5	EFO	skin disease	Oculocerebral hypopigmentation syndrome, Cross type
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	3188637	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oculocerebral hypopigmentation syndrome, Cross type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	6410048	\N	\N	EFO	9	EFO	material property	Oculocerebral hypopigmentation syndrome, Cross type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	4395674	\N	\N	EFO	6	EFO	disease	Oculocerebral hypopigmentation syndrome, Cross type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	4395675	\N	\N	EFO	6	EFO	genetic disorder	Oculocerebral hypopigmentation syndrome, Cross type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	4395676	\N	\N	EFO	6	EFO	eye disease	Oculocerebral hypopigmentation syndrome, Cross type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	6807889	\N	\N	EFO	10	EFO	experimental factor	Oculocerebral hypopigmentation syndrome, Cross type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2719	"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." []	5413600	\N	\N	EFO	7	EFO	disease	Oculocerebral hypopigmentation syndrome, Cross type
Orphanet:272	\N	\N	"" []	Orphanet:272	"" []	75549	\N	\N	EFO	0	EFO	Congenital muscular dystrophy, Fukuyama type	Congenital muscular dystrophy, Fukuyama type
Orphanet:207119	Orphanet:272	\N	"" []	Orphanet:272	"" []	218114	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of FKRP	Congenital muscular dystrophy, Fukuyama type
Orphanet:207122	Orphanet:272	\N	"" []	Orphanet:272	"" []	218115	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of fukutin	Congenital muscular dystrophy, Fukuyama type
Orphanet:209024	Orphanet:272	\N	"" []	Orphanet:272	"" []	218116	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	Congenital muscular dystrophy, Fukuyama type
Orphanet:209033	Orphanet:272	\N	"" []	Orphanet:272	"" []	218117	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein O-mannosyltransferase 2	Congenital muscular dystrophy, Fukuyama type
Orphanet:309469	Orphanet:272	\N	"" []	Orphanet:272	"" []	218118	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Congenital muscular dystrophy, Fukuyama type
Orphanet:352687	Orphanet:272	\N	"" []	Orphanet:272	"" []	218119	\N	\N	EFO	1	EFO	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	Congenital muscular dystrophy, Fukuyama type
Orphanet:371064	Orphanet:272	\N	"" []	Orphanet:272	"" []	218120	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Congenital muscular dystrophy, Fukuyama type
Orphanet:371071	Orphanet:272	\N	"" []	Orphanet:272	"" []	218121	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Congenital muscular dystrophy, Fukuyama type
Orphanet:371235	Orphanet:272	\N	"" []	Orphanet:272	"" []	218122	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with developmental anomaly	Congenital muscular dystrophy, Fukuyama type
Orphanet:98620	Orphanet:272	\N	"" []	Orphanet:272	"" []	218123	\N	\N	EFO	1	EFO	Syndromic myopia	Congenital muscular dystrophy, Fukuyama type
Orphanet:207113	Orphanet:207119	\N	"" []	Orphanet:272	"" []	573034	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Congenital muscular dystrophy, Fukuyama type
Orphanet:207113	Orphanet:207122	\N	"" []	Orphanet:272	"" []	573035	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Congenital muscular dystrophy, Fukuyama type
Orphanet:207113	Orphanet:209024	\N	"" []	Orphanet:272	"" []	573036	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Congenital muscular dystrophy, Fukuyama type
Orphanet:207113	Orphanet:209033	\N	"" []	Orphanet:272	"" []	573037	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Congenital muscular dystrophy, Fukuyama type
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:272	"" []	573038	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Congenital muscular dystrophy, Fukuyama type
Orphanet:370953	Orphanet:352687	\N	"" []	Orphanet:272	"" []	573039	\N	\N	EFO	2	EFO	Congenital muscular dystrophy due to dystroglycanopathy	Congenital muscular dystrophy, Fukuyama type
Orphanet:51577	Orphanet:352687	\N	"" []	Orphanet:272	"" []	573040	\N	\N	EFO	2	EFO	Cobblestone lissencephaly	Congenital muscular dystrophy, Fukuyama type
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:272	"" []	573041	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Congenital muscular dystrophy, Fukuyama type
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:272	"" []	573042	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Congenital muscular dystrophy, Fukuyama type
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:272	"" []	573043	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Congenital muscular dystrophy, Fukuyama type
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:272	"" []	573044	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Congenital muscular dystrophy, Fukuyama type
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:272	"" []	573045	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	Congenital muscular dystrophy, Fukuyama type
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:272	"" []	1155528	\N	\N	EFO	3	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Congenital muscular dystrophy, Fukuyama type
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:272	"" []	1155529	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Congenital muscular dystrophy, Fukuyama type
Orphanet:97242	Orphanet:370953	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:272	"" []	1155530	\N	\N	EFO	3	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy, Fukuyama type
Orphanet:48471	Orphanet:51577	\N	"" []	Orphanet:272	"" []	1155531	\N	\N	EFO	3	EFO	Lissencephaly	Congenital muscular dystrophy, Fukuyama type
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:272	"" []	1155532	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Congenital muscular dystrophy, Fukuyama type
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:272	"" []	1155533	\N	\N	EFO	3	EFO	Neurometabolic disease	Congenital muscular dystrophy, Fukuyama type
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:272	"" []	1155534	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital muscular dystrophy, Fukuyama type
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:272	"" []	1155535	\N	\N	EFO	3	EFO	Rare genetic eye disease	Congenital muscular dystrophy, Fukuyama type
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:272	"" []	2038330	\N	\N	EFO	4	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Congenital muscular dystrophy, Fukuyama type
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:272	"" []	2038331	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital muscular dystrophy, Fukuyama type
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:272	"" []	2038332	\N	\N	EFO	4	EFO	Muscular dystrophy	Congenital muscular dystrophy, Fukuyama type
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:272	"" []	2038333	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Congenital muscular dystrophy, Fukuyama type
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:272	"" []	2038334	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Congenital muscular dystrophy, Fukuyama type
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:272	"" []	2038335	\N	\N	EFO	4	EFO	Genetic syndrome with a central nervous system malformation as major feature	Congenital muscular dystrophy, Fukuyama type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:272	"" []	3188643	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Congenital muscular dystrophy, Fukuyama type
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:272	"" []	2038337	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy, Fukuyama type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:272	"" []	5413604	\N	\N	EFO	7	EFO	genetic disorder	Congenital muscular dystrophy, Fukuyama type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:272	"" []	2038339	\N	\N	EFO	4	EFO	genetic disorder	Congenital muscular dystrophy, Fukuyama type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:272	"" []	2038340	\N	\N	EFO	4	EFO	eye disease	Congenital muscular dystrophy, Fukuyama type
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:272	"" []	3188638	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy, Fukuyama type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:272	"" []	3188639	\N	\N	EFO	5	EFO	genetic disorder	Congenital muscular dystrophy, Fukuyama type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:272	"" []	3188640	\N	\N	EFO	5	EFO	metabolic disease	Congenital muscular dystrophy, Fukuyama type
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:272	"" []	3188641	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy, Fukuyama type
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:272	"" []	3188642	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Congenital muscular dystrophy, Fukuyama type
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:272	"" []	3188644	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Congenital muscular dystrophy, Fukuyama type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:272	"" []	4133728	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy, Fukuyama type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:272	"" []	5997655	\N	\N	EFO	8	EFO	genetic disorder	Congenital muscular dystrophy, Fukuyama type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:272	"" []	6410049	\N	\N	EFO	9	EFO	disease	Congenital muscular dystrophy, Fukuyama type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:272	"" []	3188648	\N	\N	EFO	5	EFO	disease	Congenital muscular dystrophy, Fukuyama type
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:272	"" []	5413602	\N	\N	EFO	7	EFO	muscular disease	Congenital muscular dystrophy, Fukuyama type
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:272	"" []	5413603	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy, Fukuyama type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:272	"" []	4395680	\N	\N	EFO	6	EFO	disease	Congenital muscular dystrophy, Fukuyama type
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:272	"" []	4395681	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy, Fukuyama type
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:272	"" []	4395682	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy, Fukuyama type
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:272	"" []	4395683	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital muscular dystrophy, Fukuyama type
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:272	"" []	4395684	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy, Fukuyama type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:272	"" []	6778690	\N	\N	EFO	10	EFO	disposition	Congenital muscular dystrophy, Fukuyama type
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:272	"" []	5997654	\N	\N	EFO	8	EFO	skeletal system disease	Congenital muscular dystrophy, Fukuyama type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:272	"" []	7029892	\N	\N	EFO	11	EFO	material property	Congenital muscular dystrophy, Fukuyama type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:272	"" []	6550999	\N	\N	EFO	9	EFO	disease	Congenital muscular dystrophy, Fukuyama type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:272	"" []	7181771	\N	\N	EFO	12	EFO	experimental factor	Congenital muscular dystrophy, Fukuyama type
Orphanet:2721	\N	\N	"" []	Orphanet:2721	"" []	75550	\N	\N	EFO	0	EFO	Odonto-onycho-dermal dysplasia	Odonto-onycho-dermal dysplasia
Orphanet:183580	Orphanet:2721	\N	"" []	Orphanet:2721	"" []	218124	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Odonto-onycho-dermal dysplasia
Orphanet:307804	Orphanet:2721	\N	"" []	Orphanet:2721	"" []	218125	\N	\N	EFO	1	EFO	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Odonto-onycho-dermal dysplasia
Orphanet:79373	Orphanet:2721	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2721	"" []	218126	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Odonto-onycho-dermal dysplasia
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2721	"" []	573046	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Odonto-onycho-dermal dysplasia
Orphanet:307711	Orphanet:307804	\N	"" []	Orphanet:2721	"" []	573047	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Odonto-onycho-dermal dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2721	"" []	573048	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Odonto-onycho-dermal dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2721	"" []	573049	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Odonto-onycho-dermal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2721	"" []	2038343	\N	\N	EFO	4	EFO	genetic disorder	Odonto-onycho-dermal dysplasia
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:2721	"" []	1155537	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Odonto-onycho-dermal dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2721	"" []	1155538	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Odonto-onycho-dermal dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2721	"" []	1155539	\N	\N	EFO	3	EFO	Rare genetic skin disease	Odonto-onycho-dermal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2721	"" []	5817642	\N	\N	EFO	8	EFO	disease	Odonto-onycho-dermal dysplasia
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:2721	"" []	2038342	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Odonto-onycho-dermal dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2721	"" []	5413607	\N	\N	EFO	7	EFO	genetic disorder	Odonto-onycho-dermal dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2721	"" []	5413608	\N	\N	EFO	7	EFO	skin disease	Odonto-onycho-dermal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2721	"" []	6378894	\N	\N	EFO	9	EFO	disposition	Odonto-onycho-dermal dysplasia
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:2721	"" []	3188650	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Odonto-onycho-dermal dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2721	"" []	5817643	\N	\N	EFO	8	EFO	disease	Odonto-onycho-dermal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2721	"" []	6778691	\N	\N	EFO	10	EFO	material property	Odonto-onycho-dermal dysplasia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2721	"" []	4395688	\N	\N	EFO	6	EFO	Rare genetic skin disease	Odonto-onycho-dermal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2721	"" []	7029893	\N	\N	EFO	11	EFO	experimental factor	Odonto-onycho-dermal dysplasia
Orphanet:2722	\N	\N	"" []	Orphanet:2722	"" []	75551	\N	\N	EFO	0	EFO	Odonto-onycho dysplasia - alopecia	Odonto-onycho dysplasia - alopecia
Orphanet:183580	Orphanet:2722	\N	"" []	Orphanet:2722	"" []	218127	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Odonto-onycho dysplasia - alopecia
Orphanet:79373	Orphanet:2722	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2722	"" []	218128	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Odonto-onycho dysplasia - alopecia
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2722	"" []	573050	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Odonto-onycho dysplasia - alopecia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2722	"" []	573051	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Odonto-onycho dysplasia - alopecia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2722	"" []	573052	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Odonto-onycho dysplasia - alopecia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2722	"" []	2038347	\N	\N	EFO	4	EFO	genetic disorder	Odonto-onycho dysplasia - alopecia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2722	"" []	1155541	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Odonto-onycho dysplasia - alopecia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2722	"" []	1155542	\N	\N	EFO	3	EFO	Rare genetic skin disease	Odonto-onycho dysplasia - alopecia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2722	"" []	3000269	\N	\N	EFO	5	EFO	disease	Odonto-onycho dysplasia - alopecia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2722	"" []	2038348	\N	\N	EFO	4	EFO	genetic disorder	Odonto-onycho dysplasia - alopecia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2722	"" []	2038349	\N	\N	EFO	4	EFO	skin disease	Odonto-onycho dysplasia - alopecia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2722	"" []	4133730	\N	\N	EFO	6	EFO	disposition	Odonto-onycho dysplasia - alopecia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2722	"" []	3188653	\N	\N	EFO	5	EFO	disease	Odonto-onycho dysplasia - alopecia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2722	"" []	5182303	\N	\N	EFO	7	EFO	material property	Odonto-onycho dysplasia - alopecia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2722	"" []	5997658	\N	\N	EFO	8	EFO	experimental factor	Odonto-onycho dysplasia - alopecia
Orphanet:2723	\N	\N	"" []	Orphanet:2723	"" []	75552	\N	\N	EFO	0	EFO	Odontotrichomelic syndrome	Odontotrichomelic syndrome
Orphanet:139039	Orphanet:2723	\N	"" []	Orphanet:2723	"" []	218129	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Odontotrichomelic syndrome
Orphanet:183580	Orphanet:2723	\N	"" []	Orphanet:2723	"" []	218130	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Odontotrichomelic syndrome
Orphanet:79373	Orphanet:2723	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2723	"" []	218131	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Odontotrichomelic syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2723	"" []	573053	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Odontotrichomelic syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2723	"" []	573054	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Odontotrichomelic syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2723	"" []	573055	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Odontotrichomelic syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2723	"" []	573056	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Odontotrichomelic syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2723	"" []	1155543	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Odontotrichomelic syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2723	"" []	4395690	\N	\N	EFO	6	EFO	genetic disorder	Odontotrichomelic syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2723	"" []	1155545	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Odontotrichomelic syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2723	"" []	1155546	\N	\N	EFO	3	EFO	Rare genetic skin disease	Odontotrichomelic syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2723	"" []	2038350	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Odontotrichomelic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2723	"" []	5028432	\N	\N	EFO	7	EFO	disease	Odontotrichomelic syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2723	"" []	2038353	\N	\N	EFO	4	EFO	genetic disorder	Odontotrichomelic syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2723	"" []	2038354	\N	\N	EFO	4	EFO	skin disease	Odontotrichomelic syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2723	"" []	3188654	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Odontotrichomelic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2723	"" []	5817644	\N	\N	EFO	8	EFO	disposition	Odontotrichomelic syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2723	"" []	3188656	\N	\N	EFO	5	EFO	disease	Odontotrichomelic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2723	"" []	6410051	\N	\N	EFO	9	EFO	material property	Odontotrichomelic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2723	"" []	6807891	\N	\N	EFO	10	EFO	experimental factor	Odontotrichomelic syndrome
Orphanet:2724	\N	\N	"" []	Orphanet:2724	"" []	75553	\N	\N	EFO	0	EFO	Odontomatosis - aortae esophagus stenosis	Odontomatosis - aortae esophagus stenosis
Orphanet:183580	Orphanet:2724	\N	"" []	Orphanet:2724	"" []	218132	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Odontomatosis - aortae esophagus stenosis
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2724	"" []	573057	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Odontomatosis - aortae esophagus stenosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2724	"" []	1155547	\N	\N	EFO	3	EFO	genetic disorder	Odontomatosis - aortae esophagus stenosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2724	"" []	2038355	\N	\N	EFO	4	EFO	disease	Odontomatosis - aortae esophagus stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2724	"" []	3188657	\N	\N	EFO	5	EFO	disposition	Odontomatosis - aortae esophagus stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2724	"" []	4395692	\N	\N	EFO	6	EFO	material property	Odontomatosis - aortae esophagus stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2724	"" []	5413611	\N	\N	EFO	7	EFO	experimental factor	Odontomatosis - aortae esophagus stenosis
Orphanet:2728	\N	\N	"" []	Orphanet:2728	"" []	75554	\N	\N	EFO	0	EFO	Blepharophimosis-intellectual disability syndrome, Ohdo type	Blepharophimosis-intellectual disability syndrome, Ohdo type
Orphanet:293642	Orphanet:2728	\N	"" []	Orphanet:2728	"" []	218133	\N	\N	EFO	1	EFO	Blepharophimosis-intellectual disability syndrome	Blepharophimosis-intellectual disability syndrome, Ohdo type
Orphanet:102283	Orphanet:293642	\N	"" []	Orphanet:2728	"" []	573058	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Blepharophimosis-intellectual disability syndrome, Ohdo type
Orphanet:183763	Orphanet:293642	\N	"" []	Orphanet:2728	"" []	573059	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Blepharophimosis-intellectual disability syndrome, Ohdo type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2728	"" []	1155548	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Blepharophimosis-intellectual disability syndrome, Ohdo type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2728	"" []	1155549	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Blepharophimosis-intellectual disability syndrome, Ohdo type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2728	"" []	2038356	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis-intellectual disability syndrome, Ohdo type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2728	"" []	2038357	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Blepharophimosis-intellectual disability syndrome, Ohdo type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2728	"" []	3188658	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome, Ohdo type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2728	"" []	3188659	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome, Ohdo type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2728	"" []	4395693	\N	\N	EFO	6	EFO	disease	Blepharophimosis-intellectual disability syndrome, Ohdo type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2728	"" []	5413612	\N	\N	EFO	7	EFO	disposition	Blepharophimosis-intellectual disability syndrome, Ohdo type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2728	"" []	6150108	\N	\N	EFO	8	EFO	material property	Blepharophimosis-intellectual disability syndrome, Ohdo type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2728	"" []	6633033	\N	\N	EFO	9	EFO	experimental factor	Blepharophimosis-intellectual disability syndrome, Ohdo type
Orphanet:2729	\N	\N	"" []	Orphanet:2729	"" []	75555	\N	\N	EFO	0	EFO	Okamoto syndrome	Okamoto syndrome
Orphanet:102283	Orphanet:2729	\N	"" []	Orphanet:2729	"" []	218134	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Okamoto syndrome
Orphanet:183763	Orphanet:2729	\N	"" []	Orphanet:2729	"" []	218135	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Okamoto syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2729	"" []	573060	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Okamoto syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2729	"" []	573061	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Okamoto syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2729	"" []	1155550	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Okamoto syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2729	"" []	1155551	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Okamoto syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2729	"" []	2038358	\N	\N	EFO	4	EFO	genetic disorder	Okamoto syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2729	"" []	2038359	\N	\N	EFO	4	EFO	genetic disorder	Okamoto syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2729	"" []	3188660	\N	\N	EFO	5	EFO	disease	Okamoto syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2729	"" []	4395694	\N	\N	EFO	6	EFO	disposition	Okamoto syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2729	"" []	5413613	\N	\N	EFO	7	EFO	material property	Okamoto syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2729	"" []	6150109	\N	\N	EFO	8	EFO	experimental factor	Okamoto syndrome
Orphanet:273	\N	\N	"" []	Orphanet:273	"" []	75556	\N	\N	EFO	0	EFO	Steinert myotonic dystrophy	Steinert myotonic dystrophy
Orphanet:181441	Orphanet:273	\N	"" []	Orphanet:273	"" []	218136	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Steinert myotonic dystrophy
Orphanet:206647	Orphanet:273	\N	"" []	Orphanet:273	"" []	218137	\N	\N	EFO	1	EFO	Myotonic dystrophy	Steinert myotonic dystrophy
Orphanet:217595	Orphanet:273	\N	"" []	Orphanet:273	"" []	218138	\N	\N	EFO	1	EFO	Syndrome associated with hypertrophic cardiomyopathy	Steinert myotonic dystrophy
Orphanet:98578	Orphanet:273	\N	"" []	Orphanet:273	"" []	218139	\N	\N	EFO	1	EFO	Ptosis	Steinert myotonic dystrophy
Orphanet:98648	Orphanet:273	\N	"" []	Orphanet:273	"" []	218140	\N	\N	EFO	1	EFO	Musculoskeletal disease with cataract	Steinert myotonic dystrophy
Orphanet:98689	Orphanet:273	\N	"" []	Orphanet:273	"" []	218141	\N	\N	EFO	1	EFO	Myopathy with eye involvement	Steinert myotonic dystrophy
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:273	"" []	573062	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Steinert myotonic dystrophy
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:273	"" []	573063	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Steinert myotonic dystrophy
Orphanet:206644	Orphanet:206647	\N	"" []	Orphanet:273	"" []	573064	\N	\N	EFO	2	EFO	Progressive muscular dystrophy	Steinert myotonic dystrophy
Orphanet:206970	Orphanet:206647	\N	"" []	Orphanet:273	"" []	573065	\N	\N	EFO	2	EFO	Myotonic syndrome	Steinert myotonic dystrophy
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:273	"" []	573066	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Steinert myotonic dystrophy
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:273	"" []	573067	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Steinert myotonic dystrophy
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:273	"" []	573068	\N	\N	EFO	2	EFO	Systemic disease with cataract	Steinert myotonic dystrophy
Orphanet:183616	Orphanet:98689	\N	"" []	Orphanet:273	"" []	573069	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Steinert myotonic dystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:273	"" []	1155552	\N	\N	EFO	3	EFO	genetic disorder	Steinert myotonic dystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:273	"" []	1155553	\N	\N	EFO	3	EFO	endocrine system disease	Steinert myotonic dystrophy
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:273	"" []	1155554	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Steinert myotonic dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:273	"" []	1155555	\N	\N	EFO	3	EFO	Muscular dystrophy	Steinert myotonic dystrophy
Orphanet:206634	Orphanet:206970	\N	"" []	Orphanet:273	"" []	1155556	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Steinert myotonic dystrophy
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:273	"" []	1155557	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Steinert myotonic dystrophy
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:273	"" []	1155558	\N	\N	EFO	3	EFO	Rare palpebral disease	Steinert myotonic dystrophy
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:273	"" []	1155559	\N	\N	EFO	3	EFO	Syndromic cataract	Steinert myotonic dystrophy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:273	"" []	1155560	\N	\N	EFO	3	EFO	Rare genetic eye disease	Steinert myotonic dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:273	"" []	5817646	\N	\N	EFO	8	EFO	disease	Steinert myotonic dystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:273	"" []	2038361	\N	\N	EFO	4	EFO	disease	Steinert myotonic dystrophy
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:273	"" []	2038362	\N	\N	EFO	4	EFO	Rare genetic male infertility	Steinert myotonic dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:273	"" []	2038363	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Steinert myotonic dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:273	"" []	3188663	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Steinert myotonic dystrophy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:273	"" []	2038365	\N	\N	EFO	4	EFO	genetic disorder	Steinert myotonic dystrophy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:273	"" []	2038366	\N	\N	EFO	4	EFO	heart disease	Steinert myotonic dystrophy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:273	"" []	2038367	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Steinert myotonic dystrophy
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:273	"" []	2038368	\N	\N	EFO	4	EFO	Rare cataract	Steinert myotonic dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:273	"" []	5413618	\N	\N	EFO	7	EFO	genetic disorder	Steinert myotonic dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:273	"" []	5413619	\N	\N	EFO	7	EFO	eye disease	Steinert myotonic dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:273	"" []	6378895	\N	\N	EFO	9	EFO	disposition	Steinert myotonic dystrophy
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:273	"" []	3188662	\N	\N	EFO	5	EFO	Genetic infertility	Steinert myotonic dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:273	"" []	4133733	\N	\N	EFO	6	EFO	muscular disease	Steinert myotonic dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:273	"" []	4133734	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Steinert myotonic dystrophy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:273	"" []	3188667	\N	\N	EFO	5	EFO	cardiovascular disease	Steinert myotonic dystrophy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:273	"" []	3188668	\N	\N	EFO	5	EFO	Rare genetic eye disease	Steinert myotonic dystrophy
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:273	"" []	3188669	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Steinert myotonic dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:273	"" []	5817647	\N	\N	EFO	8	EFO	disease	Steinert myotonic dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:273	"" []	6778692	\N	\N	EFO	10	EFO	material property	Steinert myotonic dystrophy
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:273	"" []	4395696	\N	\N	EFO	6	EFO	genetic disorder	Steinert myotonic dystrophy
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:273	"" []	4395697	\N	\N	EFO	6	EFO	reproductive system disease	Steinert myotonic dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:273	"" []	5182306	\N	\N	EFO	7	EFO	skeletal system disease	Steinert myotonic dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:273	"" []	5182307	\N	\N	EFO	7	EFO	genetic disorder	Steinert myotonic dystrophy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:273	"" []	4395700	\N	\N	EFO	6	EFO	disease	Steinert myotonic dystrophy
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:273	"" []	4395703	\N	\N	EFO	6	EFO	Rare genetic eye disease	Steinert myotonic dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:273	"" []	7029894	\N	\N	EFO	11	EFO	experimental factor	Steinert myotonic dystrophy
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:273	"" []	5413615	\N	\N	EFO	7	EFO	disease	Steinert myotonic dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:273	"" []	5997661	\N	\N	EFO	8	EFO	disease	Steinert myotonic dystrophy
Orphanet:2730	\N	\N	"" []	Orphanet:2730	"" []	75557	\N	\N	EFO	0	EFO	Postaxial tetramelic oligodactyly	Postaxial tetramelic oligodactyly
Orphanet:404574	Orphanet:2730	\N	"" []	Orphanet:2730	"" []	218142	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Postaxial tetramelic oligodactyly
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2730	"" []	573070	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial tetramelic oligodactyly
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2730	"" []	573071	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Postaxial tetramelic oligodactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2730	"" []	1155561	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Postaxial tetramelic oligodactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2730	"" []	1155562	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Postaxial tetramelic oligodactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2730	"" []	2038371	\N	\N	EFO	4	EFO	Rare genetic bone disease	Postaxial tetramelic oligodactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2730	"" []	2038372	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Postaxial tetramelic oligodactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2730	"" []	2038373	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Postaxial tetramelic oligodactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2730	"" []	3188671	\N	\N	EFO	5	EFO	genetic disorder	Postaxial tetramelic oligodactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2730	"" []	3188672	\N	\N	EFO	5	EFO	bone disease	Postaxial tetramelic oligodactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2730	"" []	3188673	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Postaxial tetramelic oligodactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2730	"" []	4395706	\N	\N	EFO	6	EFO	genetic disorder	Postaxial tetramelic oligodactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2730	"" []	5182308	\N	\N	EFO	7	EFO	disease	Postaxial tetramelic oligodactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2730	"" []	4395705	\N	\N	EFO	6	EFO	skeletal system disease	Postaxial tetramelic oligodactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2730	"" []	5997662	\N	\N	EFO	8	EFO	disposition	Postaxial tetramelic oligodactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2730	"" []	5413621	\N	\N	EFO	7	EFO	disease	Postaxial tetramelic oligodactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2730	"" []	6551001	\N	\N	EFO	9	EFO	material property	Postaxial tetramelic oligodactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2730	"" []	6889201	\N	\N	EFO	10	EFO	experimental factor	Postaxial tetramelic oligodactyly
Orphanet:2731	\N	\N	"" []	Orphanet:2731	"" []	75558	\N	\N	EFO	0	EFO	Taurodontia - absent teeth - sparse hair	Taurodontia - absent teeth - sparse hair
Orphanet:183580	Orphanet:2731	\N	"" []	Orphanet:2731	"" []	218143	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Taurodontia - absent teeth - sparse hair
Orphanet:79373	Orphanet:2731	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2731	"" []	218144	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Taurodontia - absent teeth - sparse hair
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2731	"" []	573072	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Taurodontia - absent teeth - sparse hair
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2731	"" []	573073	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Taurodontia - absent teeth - sparse hair
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2731	"" []	573074	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Taurodontia - absent teeth - sparse hair
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2731	"" []	2038375	\N	\N	EFO	4	EFO	genetic disorder	Taurodontia - absent teeth - sparse hair
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2731	"" []	1155564	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Taurodontia - absent teeth - sparse hair
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2731	"" []	1155565	\N	\N	EFO	3	EFO	Rare genetic skin disease	Taurodontia - absent teeth - sparse hair
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2731	"" []	3000271	\N	\N	EFO	5	EFO	disease	Taurodontia - absent teeth - sparse hair
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2731	"" []	2038376	\N	\N	EFO	4	EFO	genetic disorder	Taurodontia - absent teeth - sparse hair
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2731	"" []	2038377	\N	\N	EFO	4	EFO	skin disease	Taurodontia - absent teeth - sparse hair
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2731	"" []	4133735	\N	\N	EFO	6	EFO	disposition	Taurodontia - absent teeth - sparse hair
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2731	"" []	3188676	\N	\N	EFO	5	EFO	disease	Taurodontia - absent teeth - sparse hair
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2731	"" []	5182309	\N	\N	EFO	7	EFO	material property	Taurodontia - absent teeth - sparse hair
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2731	"" []	5997663	\N	\N	EFO	8	EFO	experimental factor	Taurodontia - absent teeth - sparse hair
Orphanet:2732	\N	\N	"" []	Orphanet:2732	"" []	75559	\N	\N	EFO	0	EFO	Olivopontocerebellar atrophy - deafness	Olivopontocerebellar atrophy - deafness
Orphanet:90642	Orphanet:2732	\N	"" []	Orphanet:2732	"" []	218145	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Olivopontocerebellar atrophy - deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2732	"" []	573075	\N	\N	EFO	2	EFO	Rare genetic deafness	Olivopontocerebellar atrophy - deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2732	"" []	1155566	\N	\N	EFO	3	EFO	genetic disorder	Olivopontocerebellar atrophy - deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2732	"" []	1155567	\N	\N	EFO	3	EFO	auditory system disease	Olivopontocerebellar atrophy - deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2732	"" []	2038378	\N	\N	EFO	4	EFO	disease	Olivopontocerebellar atrophy - deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2732	"" []	2038379	\N	\N	EFO	4	EFO	sensory system disease	Olivopontocerebellar atrophy - deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2732	"" []	5413624	\N	\N	EFO	7	EFO	disposition	Olivopontocerebellar atrophy - deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2732	"" []	3188678	\N	\N	EFO	5	EFO	nervous system disease	Olivopontocerebellar atrophy - deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2732	"" []	5877162	\N	\N	EFO	8	EFO	material property	Olivopontocerebellar atrophy - deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2732	"" []	4395709	\N	\N	EFO	6	EFO	disease	Olivopontocerebellar atrophy - deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2732	"" []	6470383	\N	\N	EFO	9	EFO	experimental factor	Olivopontocerebellar atrophy - deafness
Orphanet:2733	\N	\N	"" []	Orphanet:2733	"" []	75560	\N	\N	EFO	0	EFO	Omodysplasia	Omodysplasia
Orphanet:93438	Orphanet:2733	\N	"" []	Orphanet:2733	"" []	218146	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Omodysplasia
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:2733	"" []	573076	\N	\N	EFO	2	EFO	Primary bone dysplasia	Omodysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2733	"" []	1155568	\N	\N	EFO	3	EFO	Rare genetic bone disease	Omodysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2733	"" []	1155569	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Omodysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2733	"" []	2038380	\N	\N	EFO	4	EFO	genetic disorder	Omodysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2733	"" []	2038381	\N	\N	EFO	4	EFO	bone disease	Omodysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2733	"" []	2038382	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Omodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2733	"" []	4395712	\N	\N	EFO	6	EFO	disease	Omodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2733	"" []	3188680	\N	\N	EFO	5	EFO	skeletal system disease	Omodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2733	"" []	3188681	\N	\N	EFO	5	EFO	genetic disorder	Omodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2733	"" []	5182310	\N	\N	EFO	7	EFO	disposition	Omodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2733	"" []	4395711	\N	\N	EFO	6	EFO	disease	Omodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2733	"" []	5997664	\N	\N	EFO	8	EFO	material property	Omodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2733	"" []	6551002	\N	\N	EFO	9	EFO	experimental factor	Omodysplasia
Orphanet:2736	\N	\N	"" []	Orphanet:2736	"" []	75561	\N	\N	EFO	0	EFO	Lethal omphalocele-cleft palate syndrome	Lethal omphalocele-cleft palate syndrome
Orphanet:102283	Orphanet:2736	\N	"" []	Orphanet:2736	"" []	218147	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Lethal omphalocele-cleft palate syndrome
Orphanet:139039	Orphanet:2736	\N	"" []	Orphanet:2736	"" []	218148	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Lethal omphalocele-cleft palate syndrome
Orphanet:183763	Orphanet:2736	\N	"" []	Orphanet:2736	"" []	218149	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Lethal omphalocele-cleft palate syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2736	"" []	573077	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lethal omphalocele-cleft palate syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2736	"" []	573078	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Lethal omphalocele-cleft palate syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2736	"" []	573079	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Lethal omphalocele-cleft palate syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2736	"" []	1155570	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lethal omphalocele-cleft palate syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2736	"" []	1155571	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Lethal omphalocele-cleft palate syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2736	"" []	1155572	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Lethal omphalocele-cleft palate syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2736	"" []	4395714	\N	\N	EFO	6	EFO	genetic disorder	Lethal omphalocele-cleft palate syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2736	"" []	2038384	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Lethal omphalocele-cleft palate syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2736	"" []	2038385	\N	\N	EFO	4	EFO	genetic disorder	Lethal omphalocele-cleft palate syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2736	"" []	5059868	\N	\N	EFO	7	EFO	disease	Lethal omphalocele-cleft palate syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2736	"" []	3188683	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lethal omphalocele-cleft palate syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2736	"" []	5877163	\N	\N	EFO	8	EFO	disposition	Lethal omphalocele-cleft palate syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2736	"" []	6470384	\N	\N	EFO	9	EFO	material property	Lethal omphalocele-cleft palate syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2736	"" []	6848501	\N	\N	EFO	10	EFO	experimental factor	Lethal omphalocele-cleft palate syndrome
Orphanet:274	\N	\N	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	75562	\N	\N	EFO	0	EFO	Bernard-Soulier syndrome	Bernard-Soulier syndrome
Orphanet:220452	Orphanet:274	\N	"" []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	218150	\N	\N	EFO	1	EFO	Inherited giant platelet disorder	Bernard-Soulier syndrome
Orphanet:275729	Orphanet:220452	\N	"" []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	573080	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Bernard-Soulier syndrome
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	1155573	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Bernard-Soulier syndrome
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	2038386	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Bernard-Soulier syndrome
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	3188684	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Bernard-Soulier syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	4395715	\N	\N	EFO	6	EFO	genetic disorder	Bernard-Soulier syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	4395716	\N	\N	EFO	6	EFO	hematological system disease	Bernard-Soulier syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	5413627	\N	\N	EFO	7	EFO	disease	Bernard-Soulier syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	5413628	\N	\N	EFO	7	EFO	disease	Bernard-Soulier syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	6150113	\N	\N	EFO	8	EFO	disposition	Bernard-Soulier syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	6633035	\N	\N	EFO	9	EFO	material property	Bernard-Soulier syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:274	"Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." []	6925818	\N	\N	EFO	10	EFO	experimental factor	Bernard-Soulier syndrome
Orphanet:2741	\N	\N	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	75563	\N	\N	EFO	0	EFO	Ophthalmomandibulomelic dysplasia	Ophthalmomandibulomelic dysplasia
Orphanet:108987	Orphanet:2741	\N	"" []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	218151	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Ophthalmomandibulomelic dysplasia
Orphanet:98628	Orphanet:2741	\N	"" []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	218152	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	Ophthalmomandibulomelic dysplasia
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	573081	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Ophthalmomandibulomelic dysplasia
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	573082	\N	\N	EFO	2	EFO	Corneal dystrophy	Ophthalmomandibulomelic dysplasia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	1155574	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ophthalmomandibulomelic dysplasia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	1155575	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ophthalmomandibulomelic dysplasia
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	1155576	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ophthalmomandibulomelic dysplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	2038387	\N	\N	EFO	4	EFO	genetic disorder	Ophthalmomandibulomelic dysplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	2038388	\N	\N	EFO	4	EFO	eye disease	Ophthalmomandibulomelic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	2038389	\N	\N	EFO	4	EFO	genetic disorder	Ophthalmomandibulomelic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	3188685	\N	\N	EFO	5	EFO	disease	Ophthalmomandibulomelic dysplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	3188686	\N	\N	EFO	5	EFO	disease	Ophthalmomandibulomelic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	4395717	\N	\N	EFO	6	EFO	disposition	Ophthalmomandibulomelic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	5413629	\N	\N	EFO	7	EFO	material property	Ophthalmomandibulomelic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2741	"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." []	6150114	\N	\N	EFO	8	EFO	experimental factor	Ophthalmomandibulomelic dysplasia
Orphanet:2743	\N	\N	"" []	Orphanet:2743	"" []	75564	\N	\N	EFO	0	EFO	Ophthalmoplegia - intellectual disability - lingua scrotalis	Ophthalmoplegia - intellectual disability - lingua scrotalis
Orphanet:102283	Orphanet:2743	\N	"" []	Orphanet:2743	"" []	218153	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Ophthalmoplegia - intellectual disability - lingua scrotalis
Orphanet:183763	Orphanet:2743	\N	"" []	Orphanet:2743	"" []	218154	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Ophthalmoplegia - intellectual disability - lingua scrotalis
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2743	"" []	573083	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ophthalmoplegia - intellectual disability - lingua scrotalis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2743	"" []	573084	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Ophthalmoplegia - intellectual disability - lingua scrotalis
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2743	"" []	1155577	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ophthalmoplegia - intellectual disability - lingua scrotalis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2743	"" []	1155578	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ophthalmoplegia - intellectual disability - lingua scrotalis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2743	"" []	2038390	\N	\N	EFO	4	EFO	genetic disorder	Ophthalmoplegia - intellectual disability - lingua scrotalis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2743	"" []	2038391	\N	\N	EFO	4	EFO	genetic disorder	Ophthalmoplegia - intellectual disability - lingua scrotalis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2743	"" []	3188687	\N	\N	EFO	5	EFO	disease	Ophthalmoplegia - intellectual disability - lingua scrotalis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2743	"" []	4395718	\N	\N	EFO	6	EFO	disposition	Ophthalmoplegia - intellectual disability - lingua scrotalis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2743	"" []	5413630	\N	\N	EFO	7	EFO	material property	Ophthalmoplegia - intellectual disability - lingua scrotalis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2743	"" []	6150115	\N	\N	EFO	8	EFO	experimental factor	Ophthalmoplegia - intellectual disability - lingua scrotalis
Orphanet:2744	\N	\N	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	75565	\N	\N	EFO	0	EFO	Horizontal gaze palsy with progressive scoliosis	Horizontal gaze palsy with progressive scoliosis
Orphanet:269564	Orphanet:2744	\N	"" []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	218155	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Horizontal gaze palsy with progressive scoliosis
Orphanet:98683	Orphanet:2744	\N	"" []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	218156	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Horizontal gaze palsy with progressive scoliosis
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	573085	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Horizontal gaze palsy with progressive scoliosis
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	573086	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Horizontal gaze palsy with progressive scoliosis
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	1155579	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Horizontal gaze palsy with progressive scoliosis
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	1155580	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Horizontal gaze palsy with progressive scoliosis
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	1155581	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Horizontal gaze palsy with progressive scoliosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	2038392	\N	\N	EFO	4	EFO	genetic disorder	Horizontal gaze palsy with progressive scoliosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	2038393	\N	\N	EFO	4	EFO	genetic disorder	Horizontal gaze palsy with progressive scoliosis
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	2038394	\N	\N	EFO	4	EFO	Rare genetic eye disease	Horizontal gaze palsy with progressive scoliosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	4395720	\N	\N	EFO	6	EFO	disease	Horizontal gaze palsy with progressive scoliosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	3188689	\N	\N	EFO	5	EFO	genetic disorder	Horizontal gaze palsy with progressive scoliosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	3188690	\N	\N	EFO	5	EFO	eye disease	Horizontal gaze palsy with progressive scoliosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	5182311	\N	\N	EFO	7	EFO	disposition	Horizontal gaze palsy with progressive scoliosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	4395721	\N	\N	EFO	6	EFO	disease	Horizontal gaze palsy with progressive scoliosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	5997665	\N	\N	EFO	8	EFO	material property	Horizontal gaze palsy with progressive scoliosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2744	"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." []	6551003	\N	\N	EFO	9	EFO	experimental factor	Horizontal gaze palsy with progressive scoliosis
Orphanet:2745	\N	\N	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	75566	\N	\N	EFO	0	EFO	Opitz G/BBB syndrome	Opitz G/BBB syndrome
Orphanet:102283	Orphanet:2745	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	218157	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Opitz G/BBB syndrome
Orphanet:117573	Orphanet:2745	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	218158	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Opitz G/BBB syndrome
Orphanet:165707	Orphanet:2745	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	218159	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Opitz G/BBB syndrome
Orphanet:98464	Orphanet:2745	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	218160	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Opitz G/BBB syndrome
Orphanet:98575	Orphanet:2745	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	218161	\N	\N	EFO	1	EFO	Telecanthus	Opitz G/BBB syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	573087	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Opitz G/BBB syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	573088	\N	\N	EFO	2	EFO	Anorectal malformation	Opitz G/BBB syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	573089	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Opitz G/BBB syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	573090	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Opitz G/BBB syndrome
Orphanet:98572	Orphanet:98575	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	573091	\N	\N	EFO	2	EFO	Canthal anomaly	Opitz G/BBB syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	1155582	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Opitz G/BBB syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	1155583	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Opitz G/BBB syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	1155584	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Opitz G/BBB syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	1155585	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Opitz G/BBB syndrome
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	1155586	\N	\N	EFO	3	EFO	Rare palpebral disease	Opitz G/BBB syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	3188692	\N	\N	EFO	5	EFO	genetic disorder	Opitz G/BBB syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	2038396	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Opitz G/BBB syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	2038397	\N	\N	EFO	4	EFO	genetic disorder	Opitz G/BBB syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	2038398	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Opitz G/BBB syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	2038399	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Opitz G/BBB syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	5413633	\N	\N	EFO	7	EFO	disease	Opitz G/BBB syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	3188693	\N	\N	EFO	5	EFO	genetic disorder	Opitz G/BBB syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	3188694	\N	\N	EFO	5	EFO	Rare genetic eye disease	Opitz G/BBB syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	5877164	\N	\N	EFO	8	EFO	disposition	Opitz G/BBB syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	4395723	\N	\N	EFO	6	EFO	genetic disorder	Opitz G/BBB syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	4395724	\N	\N	EFO	6	EFO	eye disease	Opitz G/BBB syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	6470385	\N	\N	EFO	9	EFO	material property	Opitz G/BBB syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	5413634	\N	\N	EFO	7	EFO	disease	Opitz G/BBB syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2745	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	6848502	\N	\N	EFO	10	EFO	experimental factor	Opitz G/BBB syndrome
Orphanet:2746	\N	\N	"" []	Orphanet:2746	"" []	75567	\N	\N	EFO	0	EFO	Opsismodysplasia	Opsismodysplasia
Orphanet:93434	Orphanet:2746	\N	"" []	Orphanet:2746	"" []	218162	\N	\N	EFO	1	EFO	Spondylodysplastic dysplasia	Opsismodysplasia
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:2746	"" []	573092	\N	\N	EFO	2	EFO	Primary bone dysplasia	Opsismodysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2746	"" []	1155587	\N	\N	EFO	3	EFO	Rare genetic bone disease	Opsismodysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2746	"" []	1155588	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Opsismodysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2746	"" []	2038400	\N	\N	EFO	4	EFO	genetic disorder	Opsismodysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2746	"" []	2038401	\N	\N	EFO	4	EFO	bone disease	Opsismodysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2746	"" []	2038402	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Opsismodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2746	"" []	4395727	\N	\N	EFO	6	EFO	disease	Opsismodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2746	"" []	3188696	\N	\N	EFO	5	EFO	skeletal system disease	Opsismodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2746	"" []	3188697	\N	\N	EFO	5	EFO	genetic disorder	Opsismodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2746	"" []	5182313	\N	\N	EFO	7	EFO	disposition	Opsismodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2746	"" []	4395726	\N	\N	EFO	6	EFO	disease	Opsismodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2746	"" []	5997667	\N	\N	EFO	8	EFO	material property	Opsismodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2746	"" []	6551005	\N	\N	EFO	9	EFO	experimental factor	Opsismodysplasia
Orphanet:2749	\N	\N	"" []	Orphanet:2749	"" []	75568	\N	\N	EFO	0	EFO	Oromandibular-limb hypogenesis syndrome	Oromandibular-limb hypogenesis syndrome
Orphanet:156215	Orphanet:2749	\N	"" []	Orphanet:2749	"" []	218163	\N	\N	EFO	1	EFO	Oromandibular-limb anomalies syndrome	Oromandibular-limb hypogenesis syndrome
Orphanet:364571	Orphanet:2749	\N	"" []	Orphanet:2749	"" []	218164	\N	\N	EFO	1	EFO	Dysostosis with limb and face anomalies as a major feature	Oromandibular-limb hypogenesis syndrome
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:2749	"" []	573093	\N	\N	EFO	2	EFO	Hypoglossia/aglossia	Oromandibular-limb hypogenesis syndrome
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:2749	"" []	573094	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Oromandibular-limb hypogenesis syndrome
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:2749	"" []	1155589	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Oromandibular-limb hypogenesis syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2749	"" []	1155590	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Oromandibular-limb hypogenesis syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2749	"" []	2038403	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Oromandibular-limb hypogenesis syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2749	"" []	2038404	\N	\N	EFO	4	EFO	Rare genetic bone disease	Oromandibular-limb hypogenesis syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2749	"" []	2038405	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Oromandibular-limb hypogenesis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2749	"" []	4395730	\N	\N	EFO	6	EFO	genetic disorder	Oromandibular-limb hypogenesis syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2749	"" []	3188699	\N	\N	EFO	5	EFO	genetic disorder	Oromandibular-limb hypogenesis syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2749	"" []	3188700	\N	\N	EFO	5	EFO	bone disease	Oromandibular-limb hypogenesis syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2749	"" []	3188701	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Oromandibular-limb hypogenesis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2749	"" []	5182314	\N	\N	EFO	7	EFO	disease	Oromandibular-limb hypogenesis syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2749	"" []	4395729	\N	\N	EFO	6	EFO	skeletal system disease	Oromandibular-limb hypogenesis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2749	"" []	5997668	\N	\N	EFO	8	EFO	disposition	Oromandibular-limb hypogenesis syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2749	"" []	5413637	\N	\N	EFO	7	EFO	disease	Oromandibular-limb hypogenesis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2749	"" []	6551006	\N	\N	EFO	9	EFO	material property	Oromandibular-limb hypogenesis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2749	"" []	6889202	\N	\N	EFO	10	EFO	experimental factor	Oromandibular-limb hypogenesis syndrome
Orphanet:275	\N	\N	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	75569	\N	\N	EFO	0	EFO	Severe combined immunodeficiency due to DCLRE1C deficiency	Severe combined immunodeficiency due to DCLRE1C deficiency
Orphanet:317419	Orphanet:275	\N	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	218165	\N	\N	EFO	1	EFO	T-B- severe combined immunodeficiency	Severe combined immunodeficiency due to DCLRE1C deficiency
Orphanet:183660	Orphanet:317419	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	573095	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	Severe combined immunodeficiency due to DCLRE1C deficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	1155591	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	Severe combined immunodeficiency due to DCLRE1C deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	2038406	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Severe combined immunodeficiency due to DCLRE1C deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	3188702	\N	\N	EFO	5	EFO	Primary immunodeficiency	Severe combined immunodeficiency due to DCLRE1C deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	4395731	\N	\N	EFO	6	EFO	Rare genetic immune disease	Severe combined immunodeficiency due to DCLRE1C deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	5413638	\N	\N	EFO	7	EFO	genetic disorder	Severe combined immunodeficiency due to DCLRE1C deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	5413639	\N	\N	EFO	7	EFO	immune system disease	Severe combined immunodeficiency due to DCLRE1C deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	6150120	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to DCLRE1C deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	6150121	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to DCLRE1C deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	6633037	\N	\N	EFO	9	EFO	disposition	Severe combined immunodeficiency due to DCLRE1C deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	6925819	\N	\N	EFO	10	EFO	material property	Severe combined immunodeficiency due to DCLRE1C deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275	"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." []	7099160	\N	\N	EFO	11	EFO	experimental factor	Severe combined immunodeficiency due to DCLRE1C deficiency
Orphanet:2750	\N	\N	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	75570	\N	\N	EFO	0	EFO	Orofaciodigital syndrome type 1	Orofaciodigital syndrome type 1
Orphanet:140997	Orphanet:2750	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	218166	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome type 1
Orphanet:183460	Orphanet:2750	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	218167	\N	\N	EFO	1	EFO	Genetic sebaceous gland anomaly	Orofaciodigital syndrome type 1
Orphanet:79373	Orphanet:2750	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	218168	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Orofaciodigital syndrome type 1
Orphanet:90642	Orphanet:2750	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	218169	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Orofaciodigital syndrome type 1
Orphanet:93547	Orphanet:2750	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	218170	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Orofaciodigital syndrome type 1
Orphanet:98464	Orphanet:2750	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	218171	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Orofaciodigital syndrome type 1
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	573096	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome type 1
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	573097	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome type 1
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	573098	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome type 1
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	573099	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome type 1
Orphanet:183447	Orphanet:183460	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	573100	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Orofaciodigital syndrome type 1
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	573101	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Orofaciodigital syndrome type 1
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	573102	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Orofaciodigital syndrome type 1
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	573103	\N	\N	EFO	2	EFO	Rare genetic deafness	Orofaciodigital syndrome type 1
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	573104	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Orofaciodigital syndrome type 1
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	573105	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Orofaciodigital syndrome type 1
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	1155592	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome type 1
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	1155593	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome type 1
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	1155594	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 1
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	1155595	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome type 1
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	1155596	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome type 1
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	1155597	\N	\N	EFO	3	EFO	Rare genetic skin disease	Orofaciodigital syndrome type 1
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	1155598	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 1
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	1155599	\N	\N	EFO	3	EFO	genetic disorder	Orofaciodigital syndrome type 1
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	1155600	\N	\N	EFO	3	EFO	auditory system disease	Orofaciodigital syndrome type 1
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	1155601	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 1
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	1155602	\N	\N	EFO	3	EFO	Rare genetic renal disease	Orofaciodigital syndrome type 1
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	1155603	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Orofaciodigital syndrome type 1
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	2038407	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 1
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	2038408	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	5413641	\N	\N	EFO	7	EFO	genetic disorder	Orofaciodigital syndrome type 1
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	2038410	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome type 1
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	2038411	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome type 1
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	2038412	\N	\N	EFO	4	EFO	genetic disorder	Orofaciodigital syndrome type 1
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	2038413	\N	\N	EFO	4	EFO	skin disease	Orofaciodigital syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	5817648	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 1
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	2038415	\N	\N	EFO	4	EFO	sensory system disease	Orofaciodigital syndrome type 1
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	2038416	\N	\N	EFO	4	EFO	genetic disorder	Orofaciodigital syndrome type 1
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	2038417	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Orofaciodigital syndrome type 1
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	3188703	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 1
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	3188705	\N	\N	EFO	5	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 1
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	3188706	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 1
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	3188707	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 1
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	3188708	\N	\N	EFO	5	EFO	disease	Orofaciodigital syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	6378896	\N	\N	EFO	9	EFO	disposition	Orofaciodigital syndrome type 1
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	3188710	\N	\N	EFO	5	EFO	nervous system disease	Orofaciodigital syndrome type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	3188711	\N	\N	EFO	5	EFO	genetic disorder	Orofaciodigital syndrome type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	4395733	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	4395734	\N	\N	EFO	6	EFO	bone disease	Orofaciodigital syndrome type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	4395735	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	6778693	\N	\N	EFO	10	EFO	material property	Orofaciodigital syndrome type 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	4395737	\N	\N	EFO	6	EFO	disease	Orofaciodigital syndrome type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	5413640	\N	\N	EFO	7	EFO	skeletal system disease	Orofaciodigital syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	7029895	\N	\N	EFO	11	EFO	experimental factor	Orofaciodigital syndrome type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2750	"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." []	6150122	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 1
Orphanet:2751	\N	\N	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	75571	\N	\N	EFO	0	EFO	Orofaciodigital syndrome type 2	Orofaciodigital syndrome type 2
Orphanet:140997	Orphanet:2751	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	218172	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome type 2
Orphanet:183763	Orphanet:2751	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	218173	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Orofaciodigital syndrome type 2
Orphanet:90642	Orphanet:2751	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	218174	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Orofaciodigital syndrome type 2
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	573106	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome type 2
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	573107	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome type 2
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	573108	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome type 2
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	573109	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome type 2
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	573110	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Orofaciodigital syndrome type 2
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	573111	\N	\N	EFO	2	EFO	Rare genetic deafness	Orofaciodigital syndrome type 2
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	1155604	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome type 2
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	1155605	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome type 2
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	1155606	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 2
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	1155607	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome type 2
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	1155608	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome type 2
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	1155609	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Orofaciodigital syndrome type 2
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	1155610	\N	\N	EFO	3	EFO	genetic disorder	Orofaciodigital syndrome type 2
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	1155611	\N	\N	EFO	3	EFO	auditory system disease	Orofaciodigital syndrome type 2
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	2038418	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 2
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	2038419	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	5413644	\N	\N	EFO	7	EFO	genetic disorder	Orofaciodigital syndrome type 2
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	2038421	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome type 2
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	2038422	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	2038423	\N	\N	EFO	4	EFO	genetic disorder	Orofaciodigital syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	5817650	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 2
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	2038425	\N	\N	EFO	4	EFO	sensory system disease	Orofaciodigital syndrome type 2
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	3188712	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 2
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	3188714	\N	\N	EFO	5	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 2
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	3188715	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 2
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	3188716	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	6378897	\N	\N	EFO	9	EFO	disposition	Orofaciodigital syndrome type 2
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	3188718	\N	\N	EFO	5	EFO	nervous system disease	Orofaciodigital syndrome type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	4395740	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	4395741	\N	\N	EFO	6	EFO	bone disease	Orofaciodigital syndrome type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	4395742	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	6778694	\N	\N	EFO	10	EFO	material property	Orofaciodigital syndrome type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	4395744	\N	\N	EFO	6	EFO	disease	Orofaciodigital syndrome type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	5413643	\N	\N	EFO	7	EFO	skeletal system disease	Orofaciodigital syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	7029896	\N	\N	EFO	11	EFO	experimental factor	Orofaciodigital syndrome type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2751	"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." []	6150123	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 2
Orphanet:2752	\N	\N	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	75572	\N	\N	EFO	0	EFO	Orofaciodigital syndrome type 3	Orofaciodigital syndrome type 3
Orphanet:140997	Orphanet:2752	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	218175	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome type 3
Orphanet:183763	Orphanet:2752	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	218176	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Orofaciodigital syndrome type 3
Orphanet:90642	Orphanet:2752	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	218177	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Orofaciodigital syndrome type 3
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	573112	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome type 3
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	573113	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome type 3
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	573114	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome type 3
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	573115	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome type 3
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	573116	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Orofaciodigital syndrome type 3
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	573117	\N	\N	EFO	2	EFO	Rare genetic deafness	Orofaciodigital syndrome type 3
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	1155612	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome type 3
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	1155613	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome type 3
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	1155614	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 3
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	1155615	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome type 3
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	1155616	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome type 3
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	1155617	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Orofaciodigital syndrome type 3
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	1155618	\N	\N	EFO	3	EFO	genetic disorder	Orofaciodigital syndrome type 3
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	1155619	\N	\N	EFO	3	EFO	auditory system disease	Orofaciodigital syndrome type 3
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	2038426	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 3
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	2038427	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	5413648	\N	\N	EFO	7	EFO	genetic disorder	Orofaciodigital syndrome type 3
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	2038429	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome type 3
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	2038430	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	2038431	\N	\N	EFO	4	EFO	genetic disorder	Orofaciodigital syndrome type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	5817652	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 3
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	2038433	\N	\N	EFO	4	EFO	sensory system disease	Orofaciodigital syndrome type 3
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	3188719	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 3
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	3188721	\N	\N	EFO	5	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 3
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	3188722	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 3
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	3188723	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	6378898	\N	\N	EFO	9	EFO	disposition	Orofaciodigital syndrome type 3
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	3188725	\N	\N	EFO	5	EFO	nervous system disease	Orofaciodigital syndrome type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	4395746	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	4395747	\N	\N	EFO	6	EFO	bone disease	Orofaciodigital syndrome type 3
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	4395748	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	6778695	\N	\N	EFO	10	EFO	material property	Orofaciodigital syndrome type 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	4395750	\N	\N	EFO	6	EFO	disease	Orofaciodigital syndrome type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	5413647	\N	\N	EFO	7	EFO	skeletal system disease	Orofaciodigital syndrome type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	7029897	\N	\N	EFO	11	EFO	experimental factor	Orofaciodigital syndrome type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2752	"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." []	6150124	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 3
Orphanet:2753	\N	\N	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	75573	\N	\N	EFO	0	EFO	Orofaciodigital syndrome type 4	Orofaciodigital syndrome type 4
Orphanet:140997	Orphanet:2753	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	218178	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome type 4
Orphanet:183763	Orphanet:2753	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	218179	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Orofaciodigital syndrome type 4
Orphanet:90642	Orphanet:2753	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	218180	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Orofaciodigital syndrome type 4
Orphanet:93426	Orphanet:2753	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	218181	\N	\N	EFO	1	EFO	Short rib dysplasia	Orofaciodigital syndrome type 4
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	573118	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome type 4
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	573119	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome type 4
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	573120	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome type 4
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	573121	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome type 4
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	573122	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Orofaciodigital syndrome type 4
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	573123	\N	\N	EFO	2	EFO	Rare genetic deafness	Orofaciodigital syndrome type 4
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	573124	\N	\N	EFO	2	EFO	Primary bone dysplasia	Orofaciodigital syndrome type 4
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	1155620	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome type 4
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	1155621	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome type 4
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	1155622	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 4
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	1155623	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome type 4
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	1155624	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome type 4
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	1155625	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Orofaciodigital syndrome type 4
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	1155626	\N	\N	EFO	3	EFO	genetic disorder	Orofaciodigital syndrome type 4
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	1155627	\N	\N	EFO	3	EFO	auditory system disease	Orofaciodigital syndrome type 4
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	1155628	\N	\N	EFO	3	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 4
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	1155629	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 4
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	2038434	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 4
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	2038435	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 4
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	5059876	\N	\N	EFO	7	EFO	genetic disorder	Orofaciodigital syndrome type 4
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	2038437	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome type 4
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	2038438	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	2038439	\N	\N	EFO	4	EFO	genetic disorder	Orofaciodigital syndrome type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	5817654	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 4
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	2038441	\N	\N	EFO	4	EFO	sensory system disease	Orofaciodigital syndrome type 4
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	4395752	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome type 4
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	4395753	\N	\N	EFO	6	EFO	bone disease	Orofaciodigital syndrome type 4
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	4395754	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 4
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	3188726	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 4
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	3188728	\N	\N	EFO	5	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 4
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	3188729	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 4
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	3188730	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	6378899	\N	\N	EFO	9	EFO	disposition	Orofaciodigital syndrome type 4
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	3188732	\N	\N	EFO	5	EFO	nervous system disease	Orofaciodigital syndrome type 4
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	5059875	\N	\N	EFO	7	EFO	skeletal system disease	Orofaciodigital syndrome type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	6778696	\N	\N	EFO	10	EFO	material property	Orofaciodigital syndrome type 4
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	4395756	\N	\N	EFO	6	EFO	disease	Orofaciodigital syndrome type 4
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	5877169	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2753	"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." []	7029898	\N	\N	EFO	11	EFO	experimental factor	Orofaciodigital syndrome type 4
Orphanet:2754	\N	\N	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	75574	\N	\N	EFO	0	EFO	Joubert syndrome with orofaciodigital defect	Joubert syndrome with orofaciodigital defect
Orphanet:140874	Orphanet:2754	\N	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	218182	\N	\N	EFO	1	EFO	Joubert syndrome and related disorders	Joubert syndrome with orofaciodigital defect
Orphanet:140997	Orphanet:2754	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	218183	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Joubert syndrome with orofaciodigital defect
Orphanet:183763	Orphanet:2754	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	218184	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Joubert syndrome with orofaciodigital defect
Orphanet:269567	Orphanet:2754	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	218185	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Joubert syndrome with orofaciodigital defect
Orphanet:90642	Orphanet:2754	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	218186	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Joubert syndrome with orofaciodigital defect
Orphanet:98095	Orphanet:140874	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	573125	\N	\N	EFO	2	EFO	Autosomal recessive congenital cerebellar ataxia	Joubert syndrome with orofaciodigital defect
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	573126	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Joubert syndrome with orofaciodigital defect
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	573127	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Joubert syndrome with orofaciodigital defect
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	573128	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Joubert syndrome with orofaciodigital defect
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	573129	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Joubert syndrome with orofaciodigital defect
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	573130	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Joubert syndrome with orofaciodigital defect
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	573131	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Joubert syndrome with orofaciodigital defect
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	573132	\N	\N	EFO	2	EFO	Rare genetic deafness	Joubert syndrome with orofaciodigital defect
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	1155630	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Joubert syndrome with orofaciodigital defect
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	1155631	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Joubert syndrome with orofaciodigital defect
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	1155632	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Joubert syndrome with orofaciodigital defect
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	1155633	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Joubert syndrome with orofaciodigital defect
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	1155634	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Joubert syndrome with orofaciodigital defect
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	1155635	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Joubert syndrome with orofaciodigital defect
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	1155636	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Joubert syndrome with orofaciodigital defect
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	1155637	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Joubert syndrome with orofaciodigital defect
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	1155638	\N	\N	EFO	3	EFO	genetic disorder	Joubert syndrome with orofaciodigital defect
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	1155639	\N	\N	EFO	3	EFO	auditory system disease	Joubert syndrome with orofaciodigital defect
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	2038445	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Joubert syndrome with orofaciodigital defect
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	2038446	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Joubert syndrome with orofaciodigital defect
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	2038447	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Joubert syndrome with orofaciodigital defect
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	2038448	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Joubert syndrome with orofaciodigital defect
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	2038449	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Joubert syndrome with orofaciodigital defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	5413656	\N	\N	EFO	7	EFO	genetic disorder	Joubert syndrome with orofaciodigital defect
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	2038451	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Joubert syndrome with orofaciodigital defect
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	2038452	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Joubert syndrome with orofaciodigital defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6633039	\N	\N	EFO	9	EFO	genetic disorder	Joubert syndrome with orofaciodigital defect
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	2038454	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Joubert syndrome with orofaciodigital defect
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	2038455	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Joubert syndrome with orofaciodigital defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6762377	\N	\N	EFO	10	EFO	disease	Joubert syndrome with orofaciodigital defect
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	2038457	\N	\N	EFO	4	EFO	sensory system disease	Joubert syndrome with orofaciodigital defect
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	3188735	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Joubert syndrome with orofaciodigital defect
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	3188736	\N	\N	EFO	5	EFO	Ataxia with dementia	Joubert syndrome with orofaciodigital defect
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	3188737	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Joubert syndrome with orofaciodigital defect
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	3188738	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Joubert syndrome with orofaciodigital defect
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	3188740	\N	\N	EFO	5	EFO	Rare genetic bone disease	Joubert syndrome with orofaciodigital defect
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	3188741	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Joubert syndrome with orofaciodigital defect
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	3188742	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Joubert syndrome with orofaciodigital defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	7008644	\N	\N	EFO	11	EFO	disposition	Joubert syndrome with orofaciodigital defect
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	3188746	\N	\N	EFO	5	EFO	nervous system disease	Joubert syndrome with orofaciodigital defect
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	4395759	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Joubert syndrome with orofaciodigital defect
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	4395760	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Joubert syndrome with orofaciodigital defect
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	4395762	\N	\N	EFO	6	EFO	genetic disorder	Joubert syndrome with orofaciodigital defect
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	4395763	\N	\N	EFO	6	EFO	bone disease	Joubert syndrome with orofaciodigital defect
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	4395764	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Joubert syndrome with orofaciodigital defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	7167536	\N	\N	EFO	12	EFO	material property	Joubert syndrome with orofaciodigital defect
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6925820	\N	\N	EFO	10	EFO	disease	Joubert syndrome with orofaciodigital defect
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	5413652	\N	\N	EFO	7	EFO	Genetic dementia	Joubert syndrome with orofaciodigital defect
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	5413653	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Joubert syndrome with orofaciodigital defect
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	5413654	\N	\N	EFO	7	EFO	Rare genetic eye disease	Joubert syndrome with orofaciodigital defect
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	5413655	\N	\N	EFO	7	EFO	skeletal system disease	Joubert syndrome with orofaciodigital defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	7272440	\N	\N	EFO	13	EFO	experimental factor	Joubert syndrome with orofaciodigital defect
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6150125	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome with orofaciodigital defect
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6150126	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome with orofaciodigital defect
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6150127	\N	\N	EFO	8	EFO	neurodegenerative disease	Joubert syndrome with orofaciodigital defect
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6150128	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome with orofaciodigital defect
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6150129	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome with orofaciodigital defect
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6150130	\N	\N	EFO	8	EFO	genetic disorder	Joubert syndrome with orofaciodigital defect
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6150131	\N	\N	EFO	8	EFO	eye disease	Joubert syndrome with orofaciodigital defect
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6150132	\N	\N	EFO	8	EFO	disease	Joubert syndrome with orofaciodigital defect
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6633038	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome with orofaciodigital defect
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6633040	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome with orofaciodigital defect
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2754	"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." []	6633042	\N	\N	EFO	9	EFO	disease	Joubert syndrome with orofaciodigital defect
Orphanet:2755	\N	\N	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	75575	\N	\N	EFO	0	EFO	Orofaciodigital syndrome type 8	Orofaciodigital syndrome type 8
Orphanet:140997	Orphanet:2755	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	218187	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome type 8
Orphanet:90642	Orphanet:2755	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	218188	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Orofaciodigital syndrome type 8
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	573133	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome type 8
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	573134	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome type 8
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	573135	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome type 8
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	573136	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome type 8
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	573137	\N	\N	EFO	2	EFO	Rare genetic deafness	Orofaciodigital syndrome type 8
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	1155640	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome type 8
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	1155641	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome type 8
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	1155642	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 8
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	1155643	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome type 8
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	1155644	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome type 8
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	1155645	\N	\N	EFO	3	EFO	genetic disorder	Orofaciodigital syndrome type 8
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	1155646	\N	\N	EFO	3	EFO	auditory system disease	Orofaciodigital syndrome type 8
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	2038458	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 8
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	2038459	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 8
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	5413659	\N	\N	EFO	7	EFO	genetic disorder	Orofaciodigital syndrome type 8
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	2038461	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome type 8
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	2038462	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome type 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	5817658	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 8
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	2038464	\N	\N	EFO	4	EFO	sensory system disease	Orofaciodigital syndrome type 8
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	3188747	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 8
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	3188749	\N	\N	EFO	5	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 8
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	3188750	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 8
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	3188751	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	6378901	\N	\N	EFO	9	EFO	disposition	Orofaciodigital syndrome type 8
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	3188753	\N	\N	EFO	5	EFO	nervous system disease	Orofaciodigital syndrome type 8
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	4395768	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome type 8
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	4395769	\N	\N	EFO	6	EFO	bone disease	Orofaciodigital syndrome type 8
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	4395770	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	6778698	\N	\N	EFO	10	EFO	material property	Orofaciodigital syndrome type 8
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	4395772	\N	\N	EFO	6	EFO	disease	Orofaciodigital syndrome type 8
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	5413658	\N	\N	EFO	7	EFO	skeletal system disease	Orofaciodigital syndrome type 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	7029900	\N	\N	EFO	11	EFO	experimental factor	Orofaciodigital syndrome type 8
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2755	"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." []	6150133	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 8
Orphanet:275517	\N	\N	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	75576	\N	\N	EFO	0	EFO	Autoimmune lymphoproliferative syndrome with recurrent viral infections	Autoimmune lymphoproliferative syndrome with recurrent viral infections
Orphanet:169355	Orphanet:275517	\N	"" []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	218189	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with autoimmunity	Autoimmune lymphoproliferative syndrome with recurrent viral infections
Orphanet:238510	Orphanet:275517	\N	"" []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	218190	\N	\N	EFO	1	EFO	Lymphoproliferative syndrome	Autoimmune lymphoproliferative syndrome with recurrent viral infections
Orphanet:169361	Orphanet:169355	\N	"" []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	573138	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Autoimmune lymphoproliferative syndrome with recurrent viral infections
EFO:0005803	Orphanet:238510	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	573139	\N	\N	EFO	2	EFO	hematological system disease	Autoimmune lymphoproliferative syndrome with recurrent viral infections
Orphanet:140162	Orphanet:238510	\N	"" []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	573140	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Autoimmune lymphoproliferative syndrome with recurrent viral infections
Orphanet:169361	Orphanet:238510	\N	"" []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	573141	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Autoimmune lymphoproliferative syndrome with recurrent viral infections
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	1155647	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Autoimmune lymphoproliferative syndrome with recurrent viral infections
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	1155648	\N	\N	EFO	3	EFO	disease	Autoimmune lymphoproliferative syndrome with recurrent viral infections
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	1155649	\N	\N	EFO	3	EFO	genetic disorder	Autoimmune lymphoproliferative syndrome with recurrent viral infections
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	2038465	\N	\N	EFO	4	EFO	Primary immunodeficiency	Autoimmune lymphoproliferative syndrome with recurrent viral infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	5817660	\N	\N	EFO	8	EFO	disposition	Autoimmune lymphoproliferative syndrome with recurrent viral infections
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	5413662	\N	\N	EFO	7	EFO	disease	Autoimmune lymphoproliferative syndrome with recurrent viral infections
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	3188754	\N	\N	EFO	5	EFO	Rare genetic immune disease	Autoimmune lymphoproliferative syndrome with recurrent viral infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	6378902	\N	\N	EFO	9	EFO	material property	Autoimmune lymphoproliferative syndrome with recurrent viral infections
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	4395773	\N	\N	EFO	6	EFO	genetic disorder	Autoimmune lymphoproliferative syndrome with recurrent viral infections
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	4395774	\N	\N	EFO	6	EFO	immune system disease	Autoimmune lymphoproliferative syndrome with recurrent viral infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	6778699	\N	\N	EFO	10	EFO	experimental factor	Autoimmune lymphoproliferative syndrome with recurrent viral infections
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275517	"Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." []	5413663	\N	\N	EFO	7	EFO	disease	Autoimmune lymphoproliferative syndrome with recurrent viral infections
Orphanet:275523	\N	\N	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	75577	\N	\N	EFO	0	EFO	Dianzani autoimmune lymphoproliferative disease	Dianzani autoimmune lymphoproliferative disease
Orphanet:238510	Orphanet:275523	\N	"" []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	218191	\N	\N	EFO	1	EFO	Lymphoproliferative syndrome	Dianzani autoimmune lymphoproliferative disease
EFO:0005803	Orphanet:238510	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	573142	\N	\N	EFO	2	EFO	hematological system disease	Dianzani autoimmune lymphoproliferative disease
Orphanet:140162	Orphanet:238510	\N	"" []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	573143	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Dianzani autoimmune lymphoproliferative disease
Orphanet:169361	Orphanet:238510	\N	"" []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	573144	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Dianzani autoimmune lymphoproliferative disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	1155650	\N	\N	EFO	3	EFO	disease	Dianzani autoimmune lymphoproliferative disease
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	1155651	\N	\N	EFO	3	EFO	genetic disorder	Dianzani autoimmune lymphoproliferative disease
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	1155652	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Dianzani autoimmune lymphoproliferative disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	5817661	\N	\N	EFO	8	EFO	disposition	Dianzani autoimmune lymphoproliferative disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	5413664	\N	\N	EFO	7	EFO	disease	Dianzani autoimmune lymphoproliferative disease
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	2038470	\N	\N	EFO	4	EFO	Primary immunodeficiency	Dianzani autoimmune lymphoproliferative disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	6378903	\N	\N	EFO	9	EFO	material property	Dianzani autoimmune lymphoproliferative disease
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	3188759	\N	\N	EFO	5	EFO	Rare genetic immune disease	Dianzani autoimmune lymphoproliferative disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	6778700	\N	\N	EFO	10	EFO	experimental factor	Dianzani autoimmune lymphoproliferative disease
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	4395777	\N	\N	EFO	6	EFO	genetic disorder	Dianzani autoimmune lymphoproliferative disease
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	4395778	\N	\N	EFO	6	EFO	immune system disease	Dianzani autoimmune lymphoproliferative disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275523	"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." []	5413665	\N	\N	EFO	7	EFO	disease	Dianzani autoimmune lymphoproliferative disease
Orphanet:275534	\N	\N	"" []	Orphanet:275534	"" []	75578	\N	\N	EFO	0	EFO	Myostatin-related muscle hypertrophy	Myostatin-related muscle hypertrophy
EFO:0000508	Orphanet:275534	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275534	"" []	218192	\N	\N	EFO	1	EFO	genetic disorder	Myostatin-related muscle hypertrophy
EFO:0002970	Orphanet:275534	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:275534	"" []	218193	\N	\N	EFO	1	EFO	muscular disease	Myostatin-related muscle hypertrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275534	"" []	573145	\N	\N	EFO	2	EFO	disease	Myostatin-related muscle hypertrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:275534	"" []	573146	\N	\N	EFO	2	EFO	skeletal system disease	Myostatin-related muscle hypertrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275534	"" []	2038472	\N	\N	EFO	4	EFO	disposition	Myostatin-related muscle hypertrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275534	"" []	1155654	\N	\N	EFO	3	EFO	disease	Myostatin-related muscle hypertrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275534	"" []	3000272	\N	\N	EFO	5	EFO	material property	Myostatin-related muscle hypertrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275534	"" []	4133747	\N	\N	EFO	6	EFO	experimental factor	Myostatin-related muscle hypertrophy
Orphanet:275543	\N	\N	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	75579	\N	\N	EFO	0	EFO	L1 syndrome	L1 syndrome
Orphanet:269573	Orphanet:275543	\N	"" []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	218194	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	L1 syndrome
Orphanet:98464	Orphanet:275543	\N	"" []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	218195	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	L1 syndrome
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	573147	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	L1 syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	573148	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	L1 syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	1155655	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	L1 syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	1155656	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	L1 syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	2038473	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	L1 syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	2038474	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	L1 syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	2038475	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	L1 syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	3188761	\N	\N	EFO	5	EFO	genetic disorder	L1 syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	3188762	\N	\N	EFO	5	EFO	genetic disorder	L1 syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	4395779	\N	\N	EFO	6	EFO	disease	L1 syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	5413666	\N	\N	EFO	7	EFO	disposition	L1 syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	6150134	\N	\N	EFO	8	EFO	material property	L1 syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275543	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	6633043	\N	\N	EFO	9	EFO	experimental factor	L1 syndrome
Orphanet:2756	\N	\N	"" []	Orphanet:2756	"" []	75580	\N	\N	EFO	0	EFO	Orofaciodigital syndrome type 10	Orofaciodigital syndrome type 10
Orphanet:140997	Orphanet:2756	\N	"" []	Orphanet:2756	"" []	218196	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome type 10
Orphanet:183763	Orphanet:2756	\N	"" []	Orphanet:2756	"" []	218197	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Orofaciodigital syndrome type 10
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:2756	"" []	573149	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome type 10
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:2756	"" []	573150	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome type 10
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:2756	"" []	573151	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome type 10
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:2756	"" []	573152	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome type 10
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2756	"" []	573153	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Orofaciodigital syndrome type 10
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:2756	"" []	1155657	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome type 10
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2756	"" []	1155658	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome type 10
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2756	"" []	1155659	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 10
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2756	"" []	1155660	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome type 10
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2756	"" []	1155661	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome type 10
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2756	"" []	1155662	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Orofaciodigital syndrome type 10
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:2756	"" []	2038476	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 10
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2756	"" []	2038477	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 10
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2756	"" []	5413669	\N	\N	EFO	7	EFO	genetic disorder	Orofaciodigital syndrome type 10
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2756	"" []	2038479	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome type 10
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2756	"" []	2038480	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome type 10
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2756	"" []	2038481	\N	\N	EFO	4	EFO	genetic disorder	Orofaciodigital syndrome type 10
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2756	"" []	3188763	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 10
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2756	"" []	5817662	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 10
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2756	"" []	3188765	\N	\N	EFO	5	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 10
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2756	"" []	3188766	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 10
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2756	"" []	3188767	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 10
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2756	"" []	6410059	\N	\N	EFO	9	EFO	disposition	Orofaciodigital syndrome type 10
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2756	"" []	4395782	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome type 10
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2756	"" []	4395783	\N	\N	EFO	6	EFO	bone disease	Orofaciodigital syndrome type 10
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2756	"" []	4395784	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 10
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2756	"" []	6807899	\N	\N	EFO	10	EFO	material property	Orofaciodigital syndrome type 10
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2756	"" []	5413668	\N	\N	EFO	7	EFO	skeletal system disease	Orofaciodigital syndrome type 10
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2756	"" []	7048652	\N	\N	EFO	11	EFO	experimental factor	Orofaciodigital syndrome type 10
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2756	"" []	6150136	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 10
Orphanet:275729	\N	\N	"" []	Orphanet:275729	"" []	75581	\N	\N	EFO	0	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Rare hemorrhagic disorder due to a constitutional thrombocytopenia
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:275729	"" []	218198	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Rare hemorrhagic disorder due to a constitutional thrombocytopenia
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:275729	"" []	573154	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Rare hemorrhagic disorder due to a constitutional thrombocytopenia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:275729	"" []	1155663	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Rare hemorrhagic disorder due to a constitutional thrombocytopenia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275729	"" []	2038482	\N	\N	EFO	4	EFO	genetic disorder	Rare hemorrhagic disorder due to a constitutional thrombocytopenia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:275729	"" []	2038483	\N	\N	EFO	4	EFO	hematological system disease	Rare hemorrhagic disorder due to a constitutional thrombocytopenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275729	"" []	3188768	\N	\N	EFO	5	EFO	disease	Rare hemorrhagic disorder due to a constitutional thrombocytopenia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275729	"" []	3188769	\N	\N	EFO	5	EFO	disease	Rare hemorrhagic disorder due to a constitutional thrombocytopenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275729	"" []	4395785	\N	\N	EFO	6	EFO	disposition	Rare hemorrhagic disorder due to a constitutional thrombocytopenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275729	"" []	5413670	\N	\N	EFO	7	EFO	material property	Rare hemorrhagic disorder due to a constitutional thrombocytopenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275729	"" []	6150137	\N	\N	EFO	8	EFO	experimental factor	Rare hemorrhagic disorder due to a constitutional thrombocytopenia
Orphanet:275736	\N	\N	"" []	Orphanet:275736	"" []	75582	\N	\N	EFO	0	EFO	Rare hemorrhagic disorder due to a platelet receptor defect	Rare hemorrhagic disorder due to a platelet receptor defect
Orphanet:71202	Orphanet:275736	\N	"" []	Orphanet:275736	"" []	218199	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Rare hemorrhagic disorder due to a platelet receptor defect
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:275736	"" []	573155	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Rare hemorrhagic disorder due to a platelet receptor defect
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:275736	"" []	1155664	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Rare hemorrhagic disorder due to a platelet receptor defect
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275736	"" []	2038484	\N	\N	EFO	4	EFO	genetic disorder	Rare hemorrhagic disorder due to a platelet receptor defect
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:275736	"" []	2038485	\N	\N	EFO	4	EFO	hematological system disease	Rare hemorrhagic disorder due to a platelet receptor defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275736	"" []	3188770	\N	\N	EFO	5	EFO	disease	Rare hemorrhagic disorder due to a platelet receptor defect
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275736	"" []	3188771	\N	\N	EFO	5	EFO	disease	Rare hemorrhagic disorder due to a platelet receptor defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275736	"" []	4395786	\N	\N	EFO	6	EFO	disposition	Rare hemorrhagic disorder due to a platelet receptor defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275736	"" []	5413671	\N	\N	EFO	7	EFO	material property	Rare hemorrhagic disorder due to a platelet receptor defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275736	"" []	6150138	\N	\N	EFO	8	EFO	experimental factor	Rare hemorrhagic disorder due to a platelet receptor defect
Orphanet:275742	\N	\N	"" []	Orphanet:275742	"" []	75583	\N	\N	EFO	0	EFO	Genetic infertility	Genetic infertility
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275742	"" []	218200	\N	\N	EFO	1	EFO	genetic disorder	Genetic infertility
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:275742	"" []	218201	\N	\N	EFO	1	EFO	reproductive system disease	Genetic infertility
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275742	"" []	573156	\N	\N	EFO	2	EFO	disease	Genetic infertility
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275742	"" []	573157	\N	\N	EFO	2	EFO	disease	Genetic infertility
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275742	"" []	1155665	\N	\N	EFO	3	EFO	disposition	Genetic infertility
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275742	"" []	2038486	\N	\N	EFO	4	EFO	material property	Genetic infertility
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275742	"" []	3188772	\N	\N	EFO	5	EFO	experimental factor	Genetic infertility
Orphanet:275745	\N	\N	"" []	Orphanet:275745	"" []	75584	\N	\N	EFO	0	EFO	Alpha-thalassemia and related diseases	Alpha-thalassemia and related diseases
EFO:1001996	Orphanet:275745	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:275745	"" []	218202	\N	\N	EFO	1	EFO	Thalassemia	Alpha-thalassemia and related diseases
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:275745	"" []	573158	\N	\N	EFO	2	EFO	Hemoglobinopathy	Alpha-thalassemia and related diseases
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:275745	"" []	1155666	\N	\N	EFO	3	EFO	Rare constitutional anemia	Alpha-thalassemia and related diseases
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:275745	"" []	2038487	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Alpha-thalassemia and related diseases
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275745	"" []	3188773	\N	\N	EFO	5	EFO	genetic disorder	Alpha-thalassemia and related diseases
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:275745	"" []	3188774	\N	\N	EFO	5	EFO	hematological system disease	Alpha-thalassemia and related diseases
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275745	"" []	4395787	\N	\N	EFO	6	EFO	disease	Alpha-thalassemia and related diseases
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275745	"" []	4395788	\N	\N	EFO	6	EFO	disease	Alpha-thalassemia and related diseases
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275745	"" []	5413672	\N	\N	EFO	7	EFO	disposition	Alpha-thalassemia and related diseases
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275745	"" []	6150139	\N	\N	EFO	8	EFO	material property	Alpha-thalassemia and related diseases
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275745	"" []	6633044	\N	\N	EFO	9	EFO	experimental factor	Alpha-thalassemia and related diseases
Orphanet:275749	\N	\N	"" []	Orphanet:275749	"" []	75585	\N	\N	EFO	0	EFO	Beta-thalassemia and related diseases	Beta-thalassemia and related diseases
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:275749	"" []	218203	\N	\N	EFO	1	EFO	Thalassemia	Beta-thalassemia and related diseases
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:275749	"" []	573159	\N	\N	EFO	2	EFO	Hemoglobinopathy	Beta-thalassemia and related diseases
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:275749	"" []	1155667	\N	\N	EFO	3	EFO	Rare constitutional anemia	Beta-thalassemia and related diseases
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:275749	"" []	2038488	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Beta-thalassemia and related diseases
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275749	"" []	3188775	\N	\N	EFO	5	EFO	genetic disorder	Beta-thalassemia and related diseases
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:275749	"" []	3188776	\N	\N	EFO	5	EFO	hematological system disease	Beta-thalassemia and related diseases
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275749	"" []	4395789	\N	\N	EFO	6	EFO	disease	Beta-thalassemia and related diseases
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275749	"" []	4395790	\N	\N	EFO	6	EFO	disease	Beta-thalassemia and related diseases
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275749	"" []	5413673	\N	\N	EFO	7	EFO	disposition	Beta-thalassemia and related diseases
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275749	"" []	6150140	\N	\N	EFO	8	EFO	material property	Beta-thalassemia and related diseases
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275749	"" []	6633045	\N	\N	EFO	9	EFO	experimental factor	Beta-thalassemia and related diseases
Orphanet:275752	\N	\N	"" []	Orphanet:275752	"" []	75586	\N	\N	EFO	0	EFO	Sickle cell disease and related diseases	Sickle cell disease and related diseases
Orphanet:68364	Orphanet:275752	\N	"" []	Orphanet:275752	"" []	218204	\N	\N	EFO	1	EFO	Hemoglobinopathy	Sickle cell disease and related diseases
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:275752	"" []	573160	\N	\N	EFO	2	EFO	Rare constitutional anemia	Sickle cell disease and related diseases
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:275752	"" []	1155668	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Sickle cell disease and related diseases
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275752	"" []	2038489	\N	\N	EFO	4	EFO	genetic disorder	Sickle cell disease and related diseases
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:275752	"" []	2038490	\N	\N	EFO	4	EFO	hematological system disease	Sickle cell disease and related diseases
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275752	"" []	3188777	\N	\N	EFO	5	EFO	disease	Sickle cell disease and related diseases
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275752	"" []	3188778	\N	\N	EFO	5	EFO	disease	Sickle cell disease and related diseases
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275752	"" []	4395791	\N	\N	EFO	6	EFO	disposition	Sickle cell disease and related diseases
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275752	"" []	5413674	\N	\N	EFO	7	EFO	material property	Sickle cell disease and related diseases
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275752	"" []	6150141	\N	\N	EFO	8	EFO	experimental factor	Sickle cell disease and related diseases
Orphanet:275761	\N	\N	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	75587	\N	\N	EFO	0	EFO	Lysosomal acid lipase deficiency	Lysosomal acid lipase deficiency
Orphanet:181437	Orphanet:275761	\N	"" []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	218205	\N	\N	EFO	1	EFO	Rare syndromic dyslipidemia	Lysosomal acid lipase deficiency
Orphanet:79204	Orphanet:275761	\N	"" []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	218206	\N	\N	EFO	1	EFO	Lipid storage disease	Lysosomal acid lipase deficiency
Orphanet:101953	Orphanet:181437	\N	"" []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	573161	\N	\N	EFO	2	EFO	Rare dyslipidemia	Lysosomal acid lipase deficiency
Orphanet:79225	Orphanet:79204	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	573162	\N	\N	EFO	2	EFO	Sphingolipidosis	Lysosomal acid lipase deficiency
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	1155669	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Lysosomal acid lipase deficiency
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	1155670	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Lysosomal acid lipase deficiency
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	1155671	\N	\N	EFO	3	EFO	Lysosomal disease	Lysosomal acid lipase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	2038491	\N	\N	EFO	4	EFO	genetic disorder	Lysosomal acid lipase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	2038492	\N	\N	EFO	4	EFO	endocrine system disease	Lysosomal acid lipase deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	2038493	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Lysosomal acid lipase deficiency
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	2038494	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Lysosomal acid lipase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	4395793	\N	\N	EFO	6	EFO	disease	Lysosomal acid lipase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	3188780	\N	\N	EFO	5	EFO	disease	Lysosomal acid lipase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	3188781	\N	\N	EFO	5	EFO	genetic disorder	Lysosomal acid lipase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	3188782	\N	\N	EFO	5	EFO	metabolic disease	Lysosomal acid lipase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	5182323	\N	\N	EFO	7	EFO	disposition	Lysosomal acid lipase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	4395794	\N	\N	EFO	6	EFO	disease	Lysosomal acid lipase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	5997675	\N	\N	EFO	8	EFO	material property	Lysosomal acid lipase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275761	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	6551007	\N	\N	EFO	9	EFO	experimental factor	Lysosomal acid lipase deficiency
Orphanet:275766	\N	\N	"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term), not associated with an underlying condition or family history of PAH, characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal." []	Orphanet:275766	"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term), not associated with an underlying condition or family history of PAH, characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal." []	75588	\N	\N	EFO	0	EFO	Idiopathic pulmonary arterial hypertension	Idiopathic pulmonary arterial hypertension
Orphanet:422	Orphanet:275766	\N	". (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." []	Orphanet:275766	"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term), not associated with an underlying condition or family history of PAH, characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal." []	218207	\N	\N	EFO	1	EFO	Idiopathic and/or familial pulmonary arterial hypertension	Idiopathic pulmonary arterial hypertension
Orphanet:156610	Orphanet:422	\N	"" []	Orphanet:275766	"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term), not associated with an underlying condition or family history of PAH, characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal." []	573163	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Idiopathic pulmonary arterial hypertension
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275766	"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term), not associated with an underlying condition or family history of PAH, characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal." []	1155672	\N	\N	EFO	3	EFO	genetic disorder	Idiopathic pulmonary arterial hypertension
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:275766	"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term), not associated with an underlying condition or family history of PAH, characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal." []	1155673	\N	\N	EFO	3	EFO	respiratory system disease	Idiopathic pulmonary arterial hypertension
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275766	"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term), not associated with an underlying condition or family history of PAH, characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal." []	2038495	\N	\N	EFO	4	EFO	disease	Idiopathic pulmonary arterial hypertension
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275766	"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term), not associated with an underlying condition or family history of PAH, characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal." []	2038496	\N	\N	EFO	4	EFO	disease	Idiopathic pulmonary arterial hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275766	"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term), not associated with an underlying condition or family history of PAH, characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal." []	3188783	\N	\N	EFO	5	EFO	disposition	Idiopathic pulmonary arterial hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275766	"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term), not associated with an underlying condition or family history of PAH, characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal." []	4395795	\N	\N	EFO	6	EFO	material property	Idiopathic pulmonary arterial hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275766	"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term), not associated with an underlying condition or family history of PAH, characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal." []	5413676	\N	\N	EFO	7	EFO	experimental factor	Idiopathic pulmonary arterial hypertension
Orphanet:275777	\N	\N	"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure, occurring in in a familial context. HPAH is progressive and potentially fatal." []	Orphanet:275777	"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure, occurring in in a familial context. HPAH is progressive and potentially fatal." []	75589	\N	\N	EFO	0	EFO	Heritable pulmonary arterial hypertension	Heritable pulmonary arterial hypertension
Orphanet:422	Orphanet:275777	\N	". (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." []	Orphanet:275777	"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure, occurring in in a familial context. HPAH is progressive and potentially fatal." []	218208	\N	\N	EFO	1	EFO	Idiopathic and/or familial pulmonary arterial hypertension	Heritable pulmonary arterial hypertension
Orphanet:156610	Orphanet:422	\N	"" []	Orphanet:275777	"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure, occurring in in a familial context. HPAH is progressive and potentially fatal." []	573164	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Heritable pulmonary arterial hypertension
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275777	"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure, occurring in in a familial context. HPAH is progressive and potentially fatal." []	1155674	\N	\N	EFO	3	EFO	genetic disorder	Heritable pulmonary arterial hypertension
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:275777	"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure, occurring in in a familial context. HPAH is progressive and potentially fatal." []	1155675	\N	\N	EFO	3	EFO	respiratory system disease	Heritable pulmonary arterial hypertension
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275777	"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure, occurring in in a familial context. HPAH is progressive and potentially fatal." []	2038497	\N	\N	EFO	4	EFO	disease	Heritable pulmonary arterial hypertension
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275777	"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure, occurring in in a familial context. HPAH is progressive and potentially fatal." []	2038498	\N	\N	EFO	4	EFO	disease	Heritable pulmonary arterial hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275777	"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure, occurring in in a familial context. HPAH is progressive and potentially fatal." []	3188784	\N	\N	EFO	5	EFO	disposition	Heritable pulmonary arterial hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275777	"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure, occurring in in a familial context. HPAH is progressive and potentially fatal." []	4395796	\N	\N	EFO	6	EFO	material property	Heritable pulmonary arterial hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275777	"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure, occurring in in a familial context. HPAH is progressive and potentially fatal." []	5413677	\N	\N	EFO	7	EFO	experimental factor	Heritable pulmonary arterial hypertension
Orphanet:275864	\N	\N	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	75590	\N	\N	EFO	0	EFO	Behavioral variant of frontotemporal dementia	Behavioral variant of frontotemporal dementia
Orphanet:282	Orphanet:275864	\N	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	218209	\N	\N	EFO	1	EFO	Frontotemporal dementia	Behavioral variant of frontotemporal dementia
Orphanet:306708	Orphanet:275864	\N	"" []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	218210	\N	\N	EFO	1	EFO	Frontotemporal neurodegeneration with movement disorder	Behavioral variant of frontotemporal dementia
Orphanet:276061	Orphanet:282	\N	"" []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	573165	\N	\N	EFO	2	EFO	Genetic frontotemporal degeneration with dementia	Behavioral variant of frontotemporal dementia
Orphanet:307058	Orphanet:306708	\N	"" []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	573166	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Behavioral variant of frontotemporal dementia
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	1155676	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease with dementia	Behavioral variant of frontotemporal dementia
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	1155677	\N	\N	EFO	3	EFO	neurodegenerative disease	Behavioral variant of frontotemporal dementia
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	1155678	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Behavioral variant of frontotemporal dementia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	2038499	\N	\N	EFO	4	EFO	Genetic dementia	Behavioral variant of frontotemporal dementia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	2038500	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Behavioral variant of frontotemporal dementia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	4395799	\N	\N	EFO	6	EFO	nervous system disease	Behavioral variant of frontotemporal dementia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	2038502	\N	\N	EFO	4	EFO	movement disorder	Behavioral variant of frontotemporal dementia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	2038503	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Behavioral variant of frontotemporal dementia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	3188785	\N	\N	EFO	5	EFO	brain disease	Behavioral variant of frontotemporal dementia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	3188786	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Behavioral variant of frontotemporal dementia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	3188787	\N	\N	EFO	5	EFO	neurodegenerative disease	Behavioral variant of frontotemporal dementia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	3188788	\N	\N	EFO	5	EFO	brain disease	Behavioral variant of frontotemporal dementia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	3188789	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Behavioral variant of frontotemporal dementia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	5059881	\N	\N	EFO	7	EFO	disease	Behavioral variant of frontotemporal dementia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	3188791	\N	\N	EFO	5	EFO	nervous system disease	Behavioral variant of frontotemporal dementia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	4395798	\N	\N	EFO	6	EFO	genetic disorder	Behavioral variant of frontotemporal dementia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	4395797	\N	\N	EFO	6	EFO	nervous system disease	Behavioral variant of frontotemporal dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	5877173	\N	\N	EFO	8	EFO	disposition	Behavioral variant of frontotemporal dementia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	5182325	\N	\N	EFO	7	EFO	disease	Behavioral variant of frontotemporal dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	6470393	\N	\N	EFO	9	EFO	material property	Behavioral variant of frontotemporal dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275864	"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." []	6848504	\N	\N	EFO	10	EFO	experimental factor	Behavioral variant of frontotemporal dementia
Orphanet:275872	\N	\N	"" []	Orphanet:275872	"" []	75591	\N	\N	EFO	0	EFO	Frontotemporal dementia with motor neuron disease	Frontotemporal dementia with motor neuron disease
Orphanet:276061	Orphanet:275872	\N	"" []	Orphanet:275872	"" []	218211	\N	\N	EFO	1	EFO	Genetic frontotemporal degeneration with dementia	Frontotemporal dementia with motor neuron disease
Orphanet:306708	Orphanet:275872	\N	"" []	Orphanet:275872	"" []	218212	\N	\N	EFO	1	EFO	Frontotemporal neurodegeneration with movement disorder	Frontotemporal dementia with motor neuron disease
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:275872	"" []	573167	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease with dementia	Frontotemporal dementia with motor neuron disease
Orphanet:307058	Orphanet:306708	\N	"" []	Orphanet:275872	"" []	573168	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Frontotemporal dementia with motor neuron disease
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:275872	"" []	1155679	\N	\N	EFO	3	EFO	Genetic dementia	Frontotemporal dementia with motor neuron disease
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:275872	"" []	1155680	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Frontotemporal dementia with motor neuron disease
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:275872	"" []	1155681	\N	\N	EFO	3	EFO	neurodegenerative disease	Frontotemporal dementia with motor neuron disease
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:275872	"" []	1155682	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Frontotemporal dementia with motor neuron disease
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:275872	"" []	2038504	\N	\N	EFO	4	EFO	brain disease	Frontotemporal dementia with motor neuron disease
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:275872	"" []	2038505	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Frontotemporal dementia with motor neuron disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:275872	"" []	2038506	\N	\N	EFO	4	EFO	neurodegenerative disease	Frontotemporal dementia with motor neuron disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:275872	"" []	2038507	\N	\N	EFO	4	EFO	brain disease	Frontotemporal dementia with motor neuron disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:275872	"" []	2038508	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Frontotemporal dementia with motor neuron disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:275872	"" []	3188795	\N	\N	EFO	5	EFO	nervous system disease	Frontotemporal dementia with motor neuron disease
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:275872	"" []	2038510	\N	\N	EFO	4	EFO	movement disorder	Frontotemporal dementia with motor neuron disease
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:275872	"" []	2038511	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Frontotemporal dementia with motor neuron disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:275872	"" []	3188793	\N	\N	EFO	5	EFO	nervous system disease	Frontotemporal dementia with motor neuron disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:275872	"" []	3188794	\N	\N	EFO	5	EFO	genetic disorder	Frontotemporal dementia with motor neuron disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275872	"" []	4133748	\N	\N	EFO	6	EFO	disease	Frontotemporal dementia with motor neuron disease
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:275872	"" []	3188797	\N	\N	EFO	5	EFO	nervous system disease	Frontotemporal dementia with motor neuron disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:275872	"" []	4395803	\N	\N	EFO	6	EFO	disease	Frontotemporal dementia with motor neuron disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:275872	"" []	5182326	\N	\N	EFO	7	EFO	disposition	Frontotemporal dementia with motor neuron disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:275872	"" []	5997677	\N	\N	EFO	8	EFO	material property	Frontotemporal dementia with motor neuron disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:275872	"" []	6551009	\N	\N	EFO	9	EFO	experimental factor	Frontotemporal dementia with motor neuron disease
Orphanet:2759	\N	\N	"" []	Orphanet:2759	"" []	75592	\N	\N	EFO	0	EFO	Imperforate oropharynx - costo vetebral anomalies	Imperforate oropharynx - costo vetebral anomalies
Orphanet:93454	Orphanet:2759	\N	"" []	Orphanet:2759	"" []	218213	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Imperforate oropharynx - costo vetebral anomalies
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:2759	"" []	573169	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Imperforate oropharynx - costo vetebral anomalies
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2759	"" []	1155683	\N	\N	EFO	3	EFO	Rare genetic bone disease	Imperforate oropharynx - costo vetebral anomalies
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2759	"" []	1155684	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Imperforate oropharynx - costo vetebral anomalies
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2759	"" []	2038512	\N	\N	EFO	4	EFO	genetic disorder	Imperforate oropharynx - costo vetebral anomalies
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2759	"" []	2038513	\N	\N	EFO	4	EFO	bone disease	Imperforate oropharynx - costo vetebral anomalies
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2759	"" []	2038514	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Imperforate oropharynx - costo vetebral anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2759	"" []	4395807	\N	\N	EFO	6	EFO	disease	Imperforate oropharynx - costo vetebral anomalies
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2759	"" []	3188799	\N	\N	EFO	5	EFO	skeletal system disease	Imperforate oropharynx - costo vetebral anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2759	"" []	3188800	\N	\N	EFO	5	EFO	genetic disorder	Imperforate oropharynx - costo vetebral anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2759	"" []	5182327	\N	\N	EFO	7	EFO	disposition	Imperforate oropharynx - costo vetebral anomalies
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2759	"" []	4395806	\N	\N	EFO	6	EFO	disease	Imperforate oropharynx - costo vetebral anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2759	"" []	5997678	\N	\N	EFO	8	EFO	material property	Imperforate oropharynx - costo vetebral anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2759	"" []	6551010	\N	\N	EFO	9	EFO	experimental factor	Imperforate oropharynx - costo vetebral anomalies
Orphanet:276	\N	\N	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	75593	\N	\N	EFO	0	EFO	T-B+ severe combined immunodeficiency due to gamma chain deficiency	T-B+ severe combined immunodeficiency due to gamma chain deficiency
Orphanet:317416	Orphanet:276	\N	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	218214	\N	\N	EFO	1	EFO	T-B+ severe combined immunodeficiency	T-B+ severe combined immunodeficiency due to gamma chain deficiency
Orphanet:183660	Orphanet:317416	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	573170	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	T-B+ severe combined immunodeficiency due to gamma chain deficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	1155685	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	T-B+ severe combined immunodeficiency due to gamma chain deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	2038515	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	T-B+ severe combined immunodeficiency due to gamma chain deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	3188801	\N	\N	EFO	5	EFO	Primary immunodeficiency	T-B+ severe combined immunodeficiency due to gamma chain deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	4395808	\N	\N	EFO	6	EFO	Rare genetic immune disease	T-B+ severe combined immunodeficiency due to gamma chain deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	5413681	\N	\N	EFO	7	EFO	genetic disorder	T-B+ severe combined immunodeficiency due to gamma chain deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	5413682	\N	\N	EFO	7	EFO	immune system disease	T-B+ severe combined immunodeficiency due to gamma chain deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	6150146	\N	\N	EFO	8	EFO	disease	T-B+ severe combined immunodeficiency due to gamma chain deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	6150147	\N	\N	EFO	8	EFO	disease	T-B+ severe combined immunodeficiency due to gamma chain deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	6633046	\N	\N	EFO	9	EFO	disposition	T-B+ severe combined immunodeficiency due to gamma chain deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	6925821	\N	\N	EFO	10	EFO	material property	T-B+ severe combined immunodeficiency due to gamma chain deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276	"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	7099161	\N	\N	EFO	11	EFO	experimental factor	T-B+ severe combined immunodeficiency due to gamma chain deficiency
Orphanet:2760	\N	\N	"" []	Orphanet:2760	"" []	75594	\N	\N	EFO	0	EFO	OSLAM syndrome	OSLAM syndrome
Orphanet:183527	Orphanet:2760	\N	"" []	Orphanet:2760	"" []	218215	\N	\N	EFO	1	EFO	Genetic bone tumor	OSLAM syndrome
EFO:0003820	Orphanet:183527	\N	"Tumors or cancer located in bone tissue or specific BONES." []	Orphanet:2760	"" []	573171	\N	\N	EFO	2	EFO	bone neoplasm	OSLAM syndrome
EFO:0004260	Orphanet:183527	\N	"Diseases of BONES." []	Orphanet:2760	"" []	573172	\N	\N	EFO	2	EFO	bone disease	OSLAM syndrome
Orphanet:68336	Orphanet:183527	\N	"" []	Orphanet:2760	"" []	573173	\N	\N	EFO	2	EFO	Rare genetic tumor	OSLAM syndrome
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2760	"" []	1155686	\N	\N	EFO	3	EFO	neoplasm	OSLAM syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2760	"" []	1155687	\N	\N	EFO	3	EFO	skeletal system disease	OSLAM syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2760	"" []	1155688	\N	\N	EFO	3	EFO	genetic disorder	OSLAM syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2760	"" []	1155689	\N	\N	EFO	3	EFO	neoplasm	OSLAM syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2760	"" []	2038516	\N	\N	EFO	4	EFO	disease	OSLAM syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2760	"" []	2038517	\N	\N	EFO	4	EFO	disease	OSLAM syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2760	"" []	2038518	\N	\N	EFO	4	EFO	disease	OSLAM syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2760	"" []	3188802	\N	\N	EFO	5	EFO	disposition	OSLAM syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2760	"" []	4395809	\N	\N	EFO	6	EFO	material property	OSLAM syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2760	"" []	5413683	\N	\N	EFO	7	EFO	experimental factor	OSLAM syndrome
Orphanet:276058	\N	\N	"" []	Orphanet:276058	"" []	75595	\N	\N	EFO	0	EFO	Genetic neurodegenerative disease with dementia	Genetic neurodegenerative disease with dementia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276058	"" []	218216	\N	\N	EFO	1	EFO	Genetic dementia	Genetic neurodegenerative disease with dementia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276058	"" []	218217	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Genetic neurodegenerative disease with dementia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276058	"" []	573174	\N	\N	EFO	2	EFO	brain disease	Genetic neurodegenerative disease with dementia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276058	"" []	573175	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Genetic neurodegenerative disease with dementia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276058	"" []	573176	\N	\N	EFO	2	EFO	neurodegenerative disease	Genetic neurodegenerative disease with dementia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276058	"" []	573177	\N	\N	EFO	2	EFO	brain disease	Genetic neurodegenerative disease with dementia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276058	"" []	573178	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Genetic neurodegenerative disease with dementia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276058	"" []	1155690	\N	\N	EFO	3	EFO	nervous system disease	Genetic neurodegenerative disease with dementia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276058	"" []	1155691	\N	\N	EFO	3	EFO	genetic disorder	Genetic neurodegenerative disease with dementia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276058	"" []	1155692	\N	\N	EFO	3	EFO	nervous system disease	Genetic neurodegenerative disease with dementia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276058	"" []	2038519	\N	\N	EFO	4	EFO	disease	Genetic neurodegenerative disease with dementia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276058	"" []	2038520	\N	\N	EFO	4	EFO	disease	Genetic neurodegenerative disease with dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276058	"" []	3188803	\N	\N	EFO	5	EFO	disposition	Genetic neurodegenerative disease with dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276058	"" []	4395810	\N	\N	EFO	6	EFO	material property	Genetic neurodegenerative disease with dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276058	"" []	5413684	\N	\N	EFO	7	EFO	experimental factor	Genetic neurodegenerative disease with dementia
Orphanet:276061	\N	\N	"" []	Orphanet:276061	"" []	75596	\N	\N	EFO	0	EFO	Genetic frontotemporal degeneration with dementia	Genetic frontotemporal degeneration with dementia
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:276061	"" []	218218	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease with dementia	Genetic frontotemporal degeneration with dementia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276061	"" []	573179	\N	\N	EFO	2	EFO	Genetic dementia	Genetic frontotemporal degeneration with dementia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276061	"" []	573180	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Genetic frontotemporal degeneration with dementia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276061	"" []	1155693	\N	\N	EFO	3	EFO	brain disease	Genetic frontotemporal degeneration with dementia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276061	"" []	1155694	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Genetic frontotemporal degeneration with dementia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276061	"" []	1155695	\N	\N	EFO	3	EFO	neurodegenerative disease	Genetic frontotemporal degeneration with dementia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276061	"" []	1155696	\N	\N	EFO	3	EFO	brain disease	Genetic frontotemporal degeneration with dementia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276061	"" []	1155697	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Genetic frontotemporal degeneration with dementia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276061	"" []	2038521	\N	\N	EFO	4	EFO	nervous system disease	Genetic frontotemporal degeneration with dementia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276061	"" []	2038522	\N	\N	EFO	4	EFO	genetic disorder	Genetic frontotemporal degeneration with dementia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276061	"" []	2038523	\N	\N	EFO	4	EFO	nervous system disease	Genetic frontotemporal degeneration with dementia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276061	"" []	3188804	\N	\N	EFO	5	EFO	disease	Genetic frontotemporal degeneration with dementia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276061	"" []	3188805	\N	\N	EFO	5	EFO	disease	Genetic frontotemporal degeneration with dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276061	"" []	4395811	\N	\N	EFO	6	EFO	disposition	Genetic frontotemporal degeneration with dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276061	"" []	5413685	\N	\N	EFO	7	EFO	material property	Genetic frontotemporal degeneration with dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276061	"" []	6150148	\N	\N	EFO	8	EFO	experimental factor	Genetic frontotemporal degeneration with dementia
Orphanet:276066	\N	\N	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	75597	\N	\N	EFO	0	EFO	Bile acid CoA ligase deficiency and defective amidation	Bile acid CoA ligase deficiency and defective amidation
Orphanet:163631	Orphanet:276066	\N	"" []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	218219	\N	\N	EFO	1	EFO	Bile acid synthesis defect with cholestasis and malabsorption	Bile acid CoA ligase deficiency and defective amidation
Orphanet:284385	Orphanet:163631	\N	"" []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	573181	\N	\N	EFO	2	EFO	Familial intrahepatic cholestasis	Bile acid CoA ligase deficiency and defective amidation
Orphanet:79168	Orphanet:163631	\N	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	573182	\N	\N	EFO	2	EFO	Disorder of bile acid synthesis	Bile acid CoA ligase deficiency and defective amidation
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	1155698	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Bile acid CoA ligase deficiency and defective amidation
Orphanet:79226	Orphanet:79168	\N	"" []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	1155699	\N	\N	EFO	3	EFO	Sterol metabolism disorder	Bile acid CoA ligase deficiency and defective amidation
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	2038524	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Bile acid CoA ligase deficiency and defective amidation
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	2038525	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Bile acid CoA ligase deficiency and defective amidation
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	3188806	\N	\N	EFO	5	EFO	digestive system disease	Bile acid CoA ligase deficiency and defective amidation
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	3188807	\N	\N	EFO	5	EFO	genetic disorder	Bile acid CoA ligase deficiency and defective amidation
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	3188808	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Bile acid CoA ligase deficiency and defective amidation
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	4395812	\N	\N	EFO	6	EFO	disease	Bile acid CoA ligase deficiency and defective amidation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	5413687	\N	\N	EFO	7	EFO	disease	Bile acid CoA ligase deficiency and defective amidation
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	4395814	\N	\N	EFO	6	EFO	genetic disorder	Bile acid CoA ligase deficiency and defective amidation
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	4395815	\N	\N	EFO	6	EFO	metabolic disease	Bile acid CoA ligase deficiency and defective amidation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	5997679	\N	\N	EFO	8	EFO	disposition	Bile acid CoA ligase deficiency and defective amidation
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	5413688	\N	\N	EFO	7	EFO	disease	Bile acid CoA ligase deficiency and defective amidation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	6551011	\N	\N	EFO	9	EFO	material property	Bile acid CoA ligase deficiency and defective amidation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276066	"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." []	6889203	\N	\N	EFO	10	EFO	experimental factor	Bile acid CoA ligase deficiency and defective amidation
Orphanet:276152	\N	\N	"" []	Orphanet:276152	"" []	75598	\N	\N	EFO	0	EFO	Multiple endocrine neoplasia type 4	Multiple endocrine neoplasia type 4
Orphanet:100094	Orphanet:276152	\N	"" []	Orphanet:276152	"" []	218220	\N	\N	EFO	1	EFO	Multiple polyglandular tumor	Multiple endocrine neoplasia type 4
Orphanet:183643	Orphanet:100094	\N	"" []	Orphanet:276152	"" []	573183	\N	\N	EFO	2	EFO	Genetic polyendocrinopathy	Multiple endocrine neoplasia type 4
Orphanet:271847	Orphanet:100094	\N	"" []	Orphanet:276152	"" []	573184	\N	\N	EFO	2	EFO	Genetic endocrine tumor	Multiple endocrine neoplasia type 4
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:276152	"" []	1155700	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Multiple endocrine neoplasia type 4
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:276152	"" []	1155701	\N	\N	EFO	3	EFO	endocrine neoplasm	Multiple endocrine neoplasia type 4
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:276152	"" []	1155702	\N	\N	EFO	3	EFO	Rare genetic tumor	Multiple endocrine neoplasia type 4
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276152	"" []	2038526	\N	\N	EFO	4	EFO	genetic disorder	Multiple endocrine neoplasia type 4
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276152	"" []	2038527	\N	\N	EFO	4	EFO	endocrine system disease	Multiple endocrine neoplasia type 4
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:276152	"" []	2038528	\N	\N	EFO	4	EFO	neoplasm	Multiple endocrine neoplasia type 4
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276152	"" []	2038529	\N	\N	EFO	4	EFO	endocrine system disease	Multiple endocrine neoplasia type 4
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276152	"" []	2038530	\N	\N	EFO	4	EFO	genetic disorder	Multiple endocrine neoplasia type 4
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:276152	"" []	2038531	\N	\N	EFO	4	EFO	neoplasm	Multiple endocrine neoplasia type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276152	"" []	3188809	\N	\N	EFO	5	EFO	disease	Multiple endocrine neoplasia type 4
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276152	"" []	3188810	\N	\N	EFO	5	EFO	disease	Multiple endocrine neoplasia type 4
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276152	"" []	3188811	\N	\N	EFO	5	EFO	disease	Multiple endocrine neoplasia type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276152	"" []	4395816	\N	\N	EFO	6	EFO	disposition	Multiple endocrine neoplasia type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276152	"" []	5413689	\N	\N	EFO	7	EFO	material property	Multiple endocrine neoplasia type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276152	"" []	6150150	\N	\N	EFO	8	EFO	experimental factor	Multiple endocrine neoplasia type 4
Orphanet:276161	\N	\N	"" []	Orphanet:276161	"" []	75599	\N	\N	EFO	0	EFO	Multiple endocrine neoplasia	Multiple endocrine neoplasia
Orphanet:100094	Orphanet:276161	\N	"" []	Orphanet:276161	"" []	218221	\N	\N	EFO	1	EFO	Multiple polyglandular tumor	Multiple endocrine neoplasia
Orphanet:183643	Orphanet:100094	\N	"" []	Orphanet:276161	"" []	573185	\N	\N	EFO	2	EFO	Genetic polyendocrinopathy	Multiple endocrine neoplasia
Orphanet:271847	Orphanet:100094	\N	"" []	Orphanet:276161	"" []	573186	\N	\N	EFO	2	EFO	Genetic endocrine tumor	Multiple endocrine neoplasia
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:276161	"" []	1155703	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Multiple endocrine neoplasia
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:276161	"" []	1155704	\N	\N	EFO	3	EFO	endocrine neoplasm	Multiple endocrine neoplasia
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:276161	"" []	1155705	\N	\N	EFO	3	EFO	Rare genetic tumor	Multiple endocrine neoplasia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276161	"" []	2038532	\N	\N	EFO	4	EFO	genetic disorder	Multiple endocrine neoplasia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276161	"" []	2038533	\N	\N	EFO	4	EFO	endocrine system disease	Multiple endocrine neoplasia
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:276161	"" []	2038534	\N	\N	EFO	4	EFO	neoplasm	Multiple endocrine neoplasia
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276161	"" []	2038535	\N	\N	EFO	4	EFO	endocrine system disease	Multiple endocrine neoplasia
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276161	"" []	2038536	\N	\N	EFO	4	EFO	genetic disorder	Multiple endocrine neoplasia
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:276161	"" []	2038537	\N	\N	EFO	4	EFO	neoplasm	Multiple endocrine neoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276161	"" []	3188812	\N	\N	EFO	5	EFO	disease	Multiple endocrine neoplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276161	"" []	3188813	\N	\N	EFO	5	EFO	disease	Multiple endocrine neoplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276161	"" []	3188814	\N	\N	EFO	5	EFO	disease	Multiple endocrine neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276161	"" []	4395817	\N	\N	EFO	6	EFO	disposition	Multiple endocrine neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276161	"" []	5413690	\N	\N	EFO	7	EFO	material property	Multiple endocrine neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276161	"" []	6150151	\N	\N	EFO	8	EFO	experimental factor	Multiple endocrine neoplasia
Orphanet:276183	\N	\N	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	75600	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 32	Spinocerebellar ataxia type 32
Orphanet:94145	Orphanet:276183	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	218222	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 32
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	573187	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 32
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	1155706	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 32
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	1155707	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 32
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	1155708	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 32
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	2038538	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 32
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	2038539	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 32
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	2038540	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 32
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	6150154	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 32
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	3188816	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 32
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	3188817	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 32
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	6410060	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 32
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	4395819	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 32
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	4395820	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 32
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	4395821	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 32
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	6807900	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 32
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	5413692	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 32
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	5413693	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 32
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	5413694	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 32
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	5413695	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 32
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	5413696	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 32
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	5413697	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 32
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	5413698	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 32
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	7048653	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 32
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	6150153	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 32
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	6150155	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 32
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	6150157	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 32
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	7190219	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 32
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276183	"Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." []	6633049	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 32
Orphanet:276193	\N	\N	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	75601	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 35	Spinocerebellar ataxia type 35
Orphanet:94145	Orphanet:276193	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	218223	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 35
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	573188	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 35
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	1155709	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 35
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	1155710	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 35
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	1155711	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 35
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	2038541	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 35
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	2038542	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 35
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	2038543	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 35
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	6150160	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 35
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	3188819	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 35
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	3188820	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 35
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	6410061	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 35
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	4395823	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 35
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	4395824	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 35
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	4395825	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 35
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	6807901	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 35
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	5413700	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 35
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	5413701	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 35
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	5413702	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 35
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	5413703	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 35
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	5413704	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 35
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	5413705	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 35
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	5413706	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 35
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	7048654	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 35
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	6150159	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 35
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	6150161	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 35
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	6150163	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 35
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	7190220	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 35
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276193	"Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." []	6633051	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 35
Orphanet:276198	\N	\N	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	75602	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 36	Spinocerebellar ataxia type 36
Orphanet:94145	Orphanet:276198	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	218224	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 36
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	573189	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 36
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	1155712	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 36
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	1155713	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 36
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	1155714	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 36
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	2038544	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 36
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	2038545	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 36
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	2038546	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 36
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	6150166	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 36
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	3188822	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 36
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	3188823	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 36
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	6410062	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 36
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	4395827	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 36
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	4395828	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 36
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	4395829	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 36
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	6807902	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 36
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	5413708	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 36
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	5413709	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 36
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	5413710	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 36
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	5413711	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 36
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	5413712	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 36
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	5413713	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 36
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	5413714	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 36
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	7048655	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 36
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	6150165	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 36
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	6150167	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 36
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	6150169	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 36
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	7190221	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 36
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276198	"Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." []	6633053	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 36
Orphanet:2762	\N	\N	"" []	Orphanet:2762	"" []	75603	\N	\N	EFO	0	EFO	Progressive osseous heteroplasia	Progressive osseous heteroplasia
Orphanet:183472	Orphanet:2762	\N	"" []	Orphanet:2762	"" []	218225	\N	\N	EFO	1	EFO	Genetic dermis disorder	Progressive osseous heteroplasia
Orphanet:364531	Orphanet:2762	\N	"" []	Orphanet:2762	"" []	218226	\N	\N	EFO	1	EFO	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	Progressive osseous heteroplasia
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2762	"" []	573190	\N	\N	EFO	2	EFO	Rare genetic skin disease	Progressive osseous heteroplasia
Orphanet:364526	Orphanet:364531	\N	"" []	Orphanet:2762	"" []	573191	\N	\N	EFO	2	EFO	Primary bone dysplasia	Progressive osseous heteroplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2762	"" []	1155715	\N	\N	EFO	3	EFO	genetic disorder	Progressive osseous heteroplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2762	"" []	1155716	\N	\N	EFO	3	EFO	skin disease	Progressive osseous heteroplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2762	"" []	1155717	\N	\N	EFO	3	EFO	Rare genetic bone disease	Progressive osseous heteroplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2762	"" []	1155718	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Progressive osseous heteroplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2762	"" []	4395832	\N	\N	EFO	6	EFO	disease	Progressive osseous heteroplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2762	"" []	2038548	\N	\N	EFO	4	EFO	disease	Progressive osseous heteroplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2762	"" []	2038549	\N	\N	EFO	4	EFO	genetic disorder	Progressive osseous heteroplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2762	"" []	2038550	\N	\N	EFO	4	EFO	bone disease	Progressive osseous heteroplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2762	"" []	2038551	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Progressive osseous heteroplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2762	"" []	5059882	\N	\N	EFO	7	EFO	disposition	Progressive osseous heteroplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2762	"" []	3188826	\N	\N	EFO	5	EFO	skeletal system disease	Progressive osseous heteroplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2762	"" []	3188827	\N	\N	EFO	5	EFO	genetic disorder	Progressive osseous heteroplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2762	"" []	5877174	\N	\N	EFO	8	EFO	material property	Progressive osseous heteroplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2762	"" []	4395831	\N	\N	EFO	6	EFO	disease	Progressive osseous heteroplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2762	"" []	6470397	\N	\N	EFO	9	EFO	experimental factor	Progressive osseous heteroplasia
Orphanet:276212	\N	\N	"" []	Orphanet:276212	"" []	75604	\N	\N	EFO	0	EFO	Mucopolysaccharidosis type 6, rapidly progressing	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:583	Orphanet:276212	\N	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	Orphanet:276212	"" []	218227	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 6	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:79213	Orphanet:583	\N	"" []	Orphanet:276212	"" []	573192	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:93448	Orphanet:583	\N	"" []	Orphanet:276212	"" []	573193	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:98711	Orphanet:583	\N	"" []	Orphanet:276212	"" []	573194	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:276212	"" []	1155719	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:276212	"" []	1155720	\N	\N	EFO	3	EFO	Lysosomal disease	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:276212	"" []	1155721	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:276212	"" []	1155722	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:276212	"" []	1155723	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:276212	"" []	2038552	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:276212	"" []	2038553	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:276212	"" []	2038554	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276212	"" []	2038555	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:276212	"" []	2038556	\N	\N	EFO	4	EFO	bone disease	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:276212	"" []	2038557	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276212	"" []	3188828	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276212	"" []	3188829	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:276212	"" []	3188830	\N	\N	EFO	5	EFO	metabolic disease	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276212	"" []	3188831	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276212	"" []	3188832	\N	\N	EFO	5	EFO	eye disease	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276212	"" []	4395833	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:276212	"" []	3188834	\N	\N	EFO	5	EFO	skeletal system disease	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276212	"" []	4395834	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276212	"" []	4395835	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 6, rapidly progressing
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276212	"" []	5182329	\N	\N	EFO	7	EFO	disposition	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276212	"" []	4395837	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 6, rapidly progressing
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276212	"" []	5997681	\N	\N	EFO	8	EFO	material property	Mucopolysaccharidosis type 6, rapidly progressing
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276212	"" []	6551012	\N	\N	EFO	9	EFO	experimental factor	Mucopolysaccharidosis type 6, rapidly progressing
Orphanet:276223	\N	\N	"" []	Orphanet:276223	"" []	75605	\N	\N	EFO	0	EFO	Mucopolysaccharidosis type 6, slowly progressing	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:583	Orphanet:276223	\N	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	Orphanet:276223	"" []	218228	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 6	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:79213	Orphanet:583	\N	"" []	Orphanet:276223	"" []	573195	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:93448	Orphanet:583	\N	"" []	Orphanet:276223	"" []	573196	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:98711	Orphanet:583	\N	"" []	Orphanet:276223	"" []	573197	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:276223	"" []	1155724	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:276223	"" []	1155725	\N	\N	EFO	3	EFO	Lysosomal disease	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:276223	"" []	1155726	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:276223	"" []	1155727	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:276223	"" []	1155728	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:276223	"" []	2038558	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:276223	"" []	2038559	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:276223	"" []	2038560	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 6, slowly progressing
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276223	"" []	2038561	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 6, slowly progressing
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:276223	"" []	2038562	\N	\N	EFO	4	EFO	bone disease	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:276223	"" []	2038563	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 6, slowly progressing
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276223	"" []	3188835	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 6, slowly progressing
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276223	"" []	3188836	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 6, slowly progressing
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:276223	"" []	3188837	\N	\N	EFO	5	EFO	metabolic disease	Mucopolysaccharidosis type 6, slowly progressing
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276223	"" []	3188838	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 6, slowly progressing
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276223	"" []	3188839	\N	\N	EFO	5	EFO	eye disease	Mucopolysaccharidosis type 6, slowly progressing
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276223	"" []	4395838	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 6, slowly progressing
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:276223	"" []	3188841	\N	\N	EFO	5	EFO	skeletal system disease	Mucopolysaccharidosis type 6, slowly progressing
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276223	"" []	4395839	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 6, slowly progressing
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276223	"" []	4395840	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 6, slowly progressing
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276223	"" []	5182330	\N	\N	EFO	7	EFO	disposition	Mucopolysaccharidosis type 6, slowly progressing
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276223	"" []	4395842	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 6, slowly progressing
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276223	"" []	5997682	\N	\N	EFO	8	EFO	material property	Mucopolysaccharidosis type 6, slowly progressing
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276223	"" []	6551013	\N	\N	EFO	9	EFO	experimental factor	Mucopolysaccharidosis type 6, slowly progressing
Orphanet:276234	\N	\N	"" []	Orphanet:276234	"" []	75606	\N	\N	EFO	0	EFO	Non-syndromic male infertility due to sperm motility disorder	Non-syndromic male infertility due to sperm motility disorder
Orphanet:399813	Orphanet:276234	\N	"" []	Orphanet:276234	"" []	218229	\N	\N	EFO	1	EFO	Male infertility due to sperm motility disorder	Non-syndromic male infertility due to sperm motility disorder
Orphanet:399771	Orphanet:399813	\N	"" []	Orphanet:276234	"" []	573198	\N	\N	EFO	2	EFO	Male infertility due to sperm disorder	Non-syndromic male infertility due to sperm motility disorder
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:276234	"" []	1155729	\N	\N	EFO	3	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Non-syndromic male infertility due to sperm motility disorder
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:276234	"" []	2038564	\N	\N	EFO	4	EFO	Rare genetic male infertility	Non-syndromic male infertility due to sperm motility disorder
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:276234	"" []	3188842	\N	\N	EFO	5	EFO	Genetic infertility	Non-syndromic male infertility due to sperm motility disorder
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276234	"" []	4395843	\N	\N	EFO	6	EFO	genetic disorder	Non-syndromic male infertility due to sperm motility disorder
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:276234	"" []	4395844	\N	\N	EFO	6	EFO	reproductive system disease	Non-syndromic male infertility due to sperm motility disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276234	"" []	5413718	\N	\N	EFO	7	EFO	disease	Non-syndromic male infertility due to sperm motility disorder
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276234	"" []	5413719	\N	\N	EFO	7	EFO	disease	Non-syndromic male infertility due to sperm motility disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276234	"" []	6150172	\N	\N	EFO	8	EFO	disposition	Non-syndromic male infertility due to sperm motility disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276234	"" []	6633054	\N	\N	EFO	9	EFO	material property	Non-syndromic male infertility due to sperm motility disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276234	"" []	6925822	\N	\N	EFO	10	EFO	experimental factor	Non-syndromic male infertility due to sperm motility disorder
Orphanet:276238	\N	\N	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	75607	\N	\N	EFO	0	EFO	Machado-Joseph disease type 1	Machado-Joseph disease type 1
Orphanet:98757	Orphanet:276238	\N	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	218230	\N	\N	EFO	1	EFO	Spinocerebellar ataxia type 3	Machado-Joseph disease type 1
Orphanet:158266	Orphanet:98757	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	573199	\N	\N	EFO	2	EFO	Huntington disease-like syndrome	Machado-Joseph disease type 1
Orphanet:94145	Orphanet:98757	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	573200	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia type 1	Machado-Joseph disease type 1
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	1155730	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Machado-Joseph disease type 1
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	1155731	\N	\N	EFO	3	EFO	Autosomal dominant cerebellar ataxia	Machado-Joseph disease type 1
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6150176	\N	\N	EFO	8	EFO	neurodegenerative disease	Machado-Joseph disease type 1
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6150177	\N	\N	EFO	8	EFO	brain disease	Machado-Joseph disease type 1
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6150178	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Machado-Joseph disease type 1
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	2038568	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Machado-Joseph disease type 1
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	2038569	\N	\N	EFO	4	EFO	Late-onset ataxia with dementia	Machado-Joseph disease type 1
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	2038570	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Machado-Joseph disease type 1
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6378904	\N	\N	EFO	9	EFO	nervous system disease	Machado-Joseph disease type 1
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6378905	\N	\N	EFO	9	EFO	nervous system disease	Machado-Joseph disease type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6378906	\N	\N	EFO	9	EFO	genetic disorder	Machado-Joseph disease type 1
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	3188846	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Machado-Joseph disease type 1
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	3188847	\N	\N	EFO	5	EFO	Ataxia with dementia	Machado-Joseph disease type 1
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	3188848	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Machado-Joseph disease type 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6778701	\N	\N	EFO	10	EFO	disease	Machado-Joseph disease type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6778702	\N	\N	EFO	10	EFO	disease	Machado-Joseph disease type 1
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	4395848	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Machado-Joseph disease type 1
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	4395849	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Machado-Joseph disease type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	7029901	\N	\N	EFO	11	EFO	disposition	Machado-Joseph disease type 1
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	5413721	\N	\N	EFO	7	EFO	Genetic dementia	Machado-Joseph disease type 1
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	5413722	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Machado-Joseph disease type 1
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	5413723	\N	\N	EFO	7	EFO	Rare genetic eye disease	Machado-Joseph disease type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	7181772	\N	\N	EFO	12	EFO	material property	Machado-Joseph disease type 1
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6150174	\N	\N	EFO	8	EFO	brain disease	Machado-Joseph disease type 1
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6150175	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Machado-Joseph disease type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6150179	\N	\N	EFO	8	EFO	genetic disorder	Machado-Joseph disease type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6150180	\N	\N	EFO	8	EFO	eye disease	Machado-Joseph disease type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	7279091	\N	\N	EFO	13	EFO	experimental factor	Machado-Joseph disease type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276238	"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." []	6633057	\N	\N	EFO	9	EFO	disease	Machado-Joseph disease type 1
Orphanet:276241	\N	\N	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	75608	\N	\N	EFO	0	EFO	Machado-Joseph disease type 2	Machado-Joseph disease type 2
Orphanet:98757	Orphanet:276241	\N	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	218231	\N	\N	EFO	1	EFO	Spinocerebellar ataxia type 3	Machado-Joseph disease type 2
Orphanet:158266	Orphanet:98757	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	573201	\N	\N	EFO	2	EFO	Huntington disease-like syndrome	Machado-Joseph disease type 2
Orphanet:94145	Orphanet:98757	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	573202	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia type 1	Machado-Joseph disease type 2
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	1155732	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Machado-Joseph disease type 2
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	1155733	\N	\N	EFO	3	EFO	Autosomal dominant cerebellar ataxia	Machado-Joseph disease type 2
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6150184	\N	\N	EFO	8	EFO	neurodegenerative disease	Machado-Joseph disease type 2
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6150185	\N	\N	EFO	8	EFO	brain disease	Machado-Joseph disease type 2
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6150186	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Machado-Joseph disease type 2
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	2038574	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Machado-Joseph disease type 2
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	2038575	\N	\N	EFO	4	EFO	Late-onset ataxia with dementia	Machado-Joseph disease type 2
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	2038576	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Machado-Joseph disease type 2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6378907	\N	\N	EFO	9	EFO	nervous system disease	Machado-Joseph disease type 2
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6378908	\N	\N	EFO	9	EFO	nervous system disease	Machado-Joseph disease type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6378909	\N	\N	EFO	9	EFO	genetic disorder	Machado-Joseph disease type 2
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	3188852	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Machado-Joseph disease type 2
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	3188853	\N	\N	EFO	5	EFO	Ataxia with dementia	Machado-Joseph disease type 2
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	3188854	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Machado-Joseph disease type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6778703	\N	\N	EFO	10	EFO	disease	Machado-Joseph disease type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6778704	\N	\N	EFO	10	EFO	disease	Machado-Joseph disease type 2
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	4395853	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Machado-Joseph disease type 2
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	4395854	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Machado-Joseph disease type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	7029902	\N	\N	EFO	11	EFO	disposition	Machado-Joseph disease type 2
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	5413725	\N	\N	EFO	7	EFO	Genetic dementia	Machado-Joseph disease type 2
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	5413726	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Machado-Joseph disease type 2
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	5413727	\N	\N	EFO	7	EFO	Rare genetic eye disease	Machado-Joseph disease type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	7181773	\N	\N	EFO	12	EFO	material property	Machado-Joseph disease type 2
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6150182	\N	\N	EFO	8	EFO	brain disease	Machado-Joseph disease type 2
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6150183	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Machado-Joseph disease type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6150187	\N	\N	EFO	8	EFO	genetic disorder	Machado-Joseph disease type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6150188	\N	\N	EFO	8	EFO	eye disease	Machado-Joseph disease type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	7279092	\N	\N	EFO	13	EFO	experimental factor	Machado-Joseph disease type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276241	"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." []	6633060	\N	\N	EFO	9	EFO	disease	Machado-Joseph disease type 2
Orphanet:276244	\N	\N	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	75609	\N	\N	EFO	0	EFO	Machado-Joseph disease type 3	Machado-Joseph disease type 3
Orphanet:98757	Orphanet:276244	\N	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	218232	\N	\N	EFO	1	EFO	Spinocerebellar ataxia type 3	Machado-Joseph disease type 3
Orphanet:158266	Orphanet:98757	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	573203	\N	\N	EFO	2	EFO	Huntington disease-like syndrome	Machado-Joseph disease type 3
Orphanet:94145	Orphanet:98757	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	573204	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia type 1	Machado-Joseph disease type 3
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	1155734	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Machado-Joseph disease type 3
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	1155735	\N	\N	EFO	3	EFO	Autosomal dominant cerebellar ataxia	Machado-Joseph disease type 3
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6150192	\N	\N	EFO	8	EFO	neurodegenerative disease	Machado-Joseph disease type 3
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6150193	\N	\N	EFO	8	EFO	brain disease	Machado-Joseph disease type 3
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6150194	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Machado-Joseph disease type 3
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	2038580	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Machado-Joseph disease type 3
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	2038581	\N	\N	EFO	4	EFO	Late-onset ataxia with dementia	Machado-Joseph disease type 3
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	2038582	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Machado-Joseph disease type 3
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6378910	\N	\N	EFO	9	EFO	nervous system disease	Machado-Joseph disease type 3
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6378911	\N	\N	EFO	9	EFO	nervous system disease	Machado-Joseph disease type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6378912	\N	\N	EFO	9	EFO	genetic disorder	Machado-Joseph disease type 3
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	3188858	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Machado-Joseph disease type 3
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	3188859	\N	\N	EFO	5	EFO	Ataxia with dementia	Machado-Joseph disease type 3
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	3188860	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Machado-Joseph disease type 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6778705	\N	\N	EFO	10	EFO	disease	Machado-Joseph disease type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6778706	\N	\N	EFO	10	EFO	disease	Machado-Joseph disease type 3
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	4395858	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Machado-Joseph disease type 3
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	4395859	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Machado-Joseph disease type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	7029903	\N	\N	EFO	11	EFO	disposition	Machado-Joseph disease type 3
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	5413729	\N	\N	EFO	7	EFO	Genetic dementia	Machado-Joseph disease type 3
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	5413730	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Machado-Joseph disease type 3
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	5413731	\N	\N	EFO	7	EFO	Rare genetic eye disease	Machado-Joseph disease type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	7181774	\N	\N	EFO	12	EFO	material property	Machado-Joseph disease type 3
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6150190	\N	\N	EFO	8	EFO	brain disease	Machado-Joseph disease type 3
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6150191	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Machado-Joseph disease type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6150195	\N	\N	EFO	8	EFO	genetic disorder	Machado-Joseph disease type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6150196	\N	\N	EFO	8	EFO	eye disease	Machado-Joseph disease type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	7279093	\N	\N	EFO	13	EFO	experimental factor	Machado-Joseph disease type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276244	"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." []	6633063	\N	\N	EFO	9	EFO	disease	Machado-Joseph disease type 3
Orphanet:276249	\N	\N	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	75610	\N	\N	EFO	0	EFO	Xeroderma pigmentosum complementation group A	Xeroderma pigmentosum complementation group A
Orphanet:910	Orphanet:276249	\N	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	218233	\N	\N	EFO	1	EFO	Xeroderma pigmentosum	Xeroderma pigmentosum complementation group A
Orphanet:98097	Orphanet:276249	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	218234	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Xeroderma pigmentosum complementation group A
Orphanet:139027	Orphanet:910	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573205	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum complementation group A
Orphanet:183422	Orphanet:910	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573206	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum complementation group A
Orphanet:183490	Orphanet:910	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573207	\N	\N	EFO	2	EFO	Genetic photodermatosis	Xeroderma pigmentosum complementation group A
Orphanet:363245	Orphanet:910	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573208	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum complementation group A
Orphanet:1172	Orphanet:98097	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573209	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Xeroderma pigmentosum complementation group A
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155736	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group A
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155737	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Xeroderma pigmentosum complementation group A
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155738	\N	\N	EFO	3	EFO	Rare genetic skin disease	Xeroderma pigmentosum complementation group A
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155739	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group A
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155740	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Xeroderma pigmentosum complementation group A
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155741	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Xeroderma pigmentosum complementation group A
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155742	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Xeroderma pigmentosum complementation group A
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038583	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group A
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038584	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group A
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038585	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group A
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038586	\N	\N	EFO	4	EFO	skin disease	Xeroderma pigmentosum complementation group A
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038587	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group A
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038588	\N	\N	EFO	4	EFO	Ataxia with dementia	Xeroderma pigmentosum complementation group A
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038589	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Xeroderma pigmentosum complementation group A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6410064	\N	\N	EFO	9	EFO	disease	Xeroderma pigmentosum complementation group A
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188862	\N	\N	EFO	5	EFO	disease	Xeroderma pigmentosum complementation group A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150199	\N	\N	EFO	8	EFO	genetic disorder	Xeroderma pigmentosum complementation group A
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188864	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Xeroderma pigmentosum complementation group A
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188865	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Xeroderma pigmentosum complementation group A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6778707	\N	\N	EFO	10	EFO	disposition	Xeroderma pigmentosum complementation group A
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395862	\N	\N	EFO	6	EFO	Genetic dementia	Xeroderma pigmentosum complementation group A
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395863	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Xeroderma pigmentosum complementation group A
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395864	\N	\N	EFO	6	EFO	Rare genetic eye disease	Xeroderma pigmentosum complementation group A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7029904	\N	\N	EFO	11	EFO	material property	Xeroderma pigmentosum complementation group A
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413733	\N	\N	EFO	7	EFO	brain disease	Xeroderma pigmentosum complementation group A
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413734	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group A
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413735	\N	\N	EFO	7	EFO	neurodegenerative disease	Xeroderma pigmentosum complementation group A
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413736	\N	\N	EFO	7	EFO	brain disease	Xeroderma pigmentosum complementation group A
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413737	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group A
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413738	\N	\N	EFO	7	EFO	genetic disorder	Xeroderma pigmentosum complementation group A
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413739	\N	\N	EFO	7	EFO	eye disease	Xeroderma pigmentosum complementation group A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7181775	\N	\N	EFO	12	EFO	experimental factor	Xeroderma pigmentosum complementation group A
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150198	\N	\N	EFO	8	EFO	nervous system disease	Xeroderma pigmentosum complementation group A
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150200	\N	\N	EFO	8	EFO	nervous system disease	Xeroderma pigmentosum complementation group A
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150202	\N	\N	EFO	8	EFO	disease	Xeroderma pigmentosum complementation group A
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276249	"Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633064	\N	\N	EFO	9	EFO	disease	Xeroderma pigmentosum complementation group A
Orphanet:276252	\N	\N	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	75611	\N	\N	EFO	0	EFO	Xeroderma pigmentosum complementation group B	Xeroderma pigmentosum complementation group B
Orphanet:220295	Orphanet:276252	\N	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	218235	\N	\N	EFO	1	EFO	Xeroderma pigmentosum-Cockayne syndrome complex	Xeroderma pigmentosum complementation group B
Orphanet:910	Orphanet:276252	\N	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	218236	\N	\N	EFO	1	EFO	Xeroderma pigmentosum	Xeroderma pigmentosum complementation group B
Orphanet:139027	Orphanet:220295	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573210	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum complementation group B
Orphanet:183422	Orphanet:220295	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573211	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum complementation group B
Orphanet:183490	Orphanet:220295	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573212	\N	\N	EFO	2	EFO	Genetic photodermatosis	Xeroderma pigmentosum complementation group B
Orphanet:183763	Orphanet:220295	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573213	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Xeroderma pigmentosum complementation group B
Orphanet:363245	Orphanet:220295	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573214	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum complementation group B
Orphanet:79389	Orphanet:220295	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573215	\N	\N	EFO	2	EFO	Premature aging	Xeroderma pigmentosum complementation group B
Orphanet:90642	Orphanet:220295	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573216	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Xeroderma pigmentosum complementation group B
Orphanet:98097	Orphanet:220295	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573217	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Xeroderma pigmentosum complementation group B
Orphanet:98661	Orphanet:220295	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573218	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	Xeroderma pigmentosum complementation group B
Orphanet:139027	Orphanet:910	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573219	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum complementation group B
Orphanet:183422	Orphanet:910	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573220	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum complementation group B
Orphanet:183490	Orphanet:910	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573221	\N	\N	EFO	2	EFO	Genetic photodermatosis	Xeroderma pigmentosum complementation group B
Orphanet:363245	Orphanet:910	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573222	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum complementation group B
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155743	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group B
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155744	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Xeroderma pigmentosum complementation group B
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155745	\N	\N	EFO	3	EFO	Rare genetic skin disease	Xeroderma pigmentosum complementation group B
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155746	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Xeroderma pigmentosum complementation group B
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155747	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group B
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155748	\N	\N	EFO	3	EFO	Rare genetic skin disease	Xeroderma pigmentosum complementation group B
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155749	\N	\N	EFO	3	EFO	Rare genetic deafness	Xeroderma pigmentosum complementation group B
Orphanet:1172	Orphanet:98097	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155750	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Xeroderma pigmentosum complementation group B
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155751	\N	\N	EFO	3	EFO	Retinal dystrophy	Xeroderma pigmentosum complementation group B
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038590	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group B
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038591	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group B
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038592	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group B
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038593	\N	\N	EFO	4	EFO	skin disease	Xeroderma pigmentosum complementation group B
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038594	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group B
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038595	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group B
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038596	\N	\N	EFO	4	EFO	auditory system disease	Xeroderma pigmentosum complementation group B
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038597	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Xeroderma pigmentosum complementation group B
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038598	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Xeroderma pigmentosum complementation group B
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038599	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Xeroderma pigmentosum complementation group B
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038600	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Xeroderma pigmentosum complementation group B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6778709	\N	\N	EFO	10	EFO	disease	Xeroderma pigmentosum complementation group B
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188867	\N	\N	EFO	5	EFO	disease	Xeroderma pigmentosum complementation group B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633066	\N	\N	EFO	9	EFO	genetic disorder	Xeroderma pigmentosum complementation group B
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188869	\N	\N	EFO	5	EFO	sensory system disease	Xeroderma pigmentosum complementation group B
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188870	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group B
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188871	\N	\N	EFO	5	EFO	Ataxia with dementia	Xeroderma pigmentosum complementation group B
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188872	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Xeroderma pigmentosum complementation group B
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188873	\N	\N	EFO	5	EFO	Rare genetic eye disease	Xeroderma pigmentosum complementation group B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7015688	\N	\N	EFO	11	EFO	disposition	Xeroderma pigmentosum complementation group B
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395867	\N	\N	EFO	6	EFO	nervous system disease	Xeroderma pigmentosum complementation group B
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395869	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Xeroderma pigmentosum complementation group B
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395870	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Xeroderma pigmentosum complementation group B
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150209	\N	\N	EFO	8	EFO	genetic disorder	Xeroderma pigmentosum complementation group B
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150210	\N	\N	EFO	8	EFO	eye disease	Xeroderma pigmentosum complementation group B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7173636	\N	\N	EFO	12	EFO	material property	Xeroderma pigmentosum complementation group B
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6925823	\N	\N	EFO	10	EFO	disease	Xeroderma pigmentosum complementation group B
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413742	\N	\N	EFO	7	EFO	Genetic dementia	Xeroderma pigmentosum complementation group B
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413743	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Xeroderma pigmentosum complementation group B
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413744	\N	\N	EFO	7	EFO	Rare genetic eye disease	Xeroderma pigmentosum complementation group B
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6470400	\N	\N	EFO	9	EFO	disease	Xeroderma pigmentosum complementation group B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7275678	\N	\N	EFO	13	EFO	experimental factor	Xeroderma pigmentosum complementation group B
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150204	\N	\N	EFO	8	EFO	brain disease	Xeroderma pigmentosum complementation group B
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150205	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group B
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150206	\N	\N	EFO	8	EFO	neurodegenerative disease	Xeroderma pigmentosum complementation group B
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150207	\N	\N	EFO	8	EFO	brain disease	Xeroderma pigmentosum complementation group B
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150208	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group B
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633065	\N	\N	EFO	9	EFO	nervous system disease	Xeroderma pigmentosum complementation group B
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276252	"Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633067	\N	\N	EFO	9	EFO	nervous system disease	Xeroderma pigmentosum complementation group B
Orphanet:276255	\N	\N	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	75612	\N	\N	EFO	0	EFO	Xeroderma pigmentosum complementation group C	Xeroderma pigmentosum complementation group C
Orphanet:910	Orphanet:276255	\N	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	218237	\N	\N	EFO	1	EFO	Xeroderma pigmentosum	Xeroderma pigmentosum complementation group C
Orphanet:139027	Orphanet:910	\N	"" []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	573223	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum complementation group C
Orphanet:183422	Orphanet:910	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	573224	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum complementation group C
Orphanet:183490	Orphanet:910	\N	"" []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	573225	\N	\N	EFO	2	EFO	Genetic photodermatosis	Xeroderma pigmentosum complementation group C
Orphanet:363245	Orphanet:910	\N	"" []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	573226	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum complementation group C
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	1155752	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group C
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	1155753	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Xeroderma pigmentosum complementation group C
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	1155754	\N	\N	EFO	3	EFO	Rare genetic skin disease	Xeroderma pigmentosum complementation group C
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	1155755	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group C
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	2038601	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group C
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	2038602	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group C
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	2038603	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group C
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	2038604	\N	\N	EFO	4	EFO	skin disease	Xeroderma pigmentosum complementation group C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	3188874	\N	\N	EFO	5	EFO	disease	Xeroderma pigmentosum complementation group C
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	3188875	\N	\N	EFO	5	EFO	disease	Xeroderma pigmentosum complementation group C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	4395873	\N	\N	EFO	6	EFO	disposition	Xeroderma pigmentosum complementation group C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	5413746	\N	\N	EFO	7	EFO	material property	Xeroderma pigmentosum complementation group C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276255	"Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" []	6150211	\N	\N	EFO	8	EFO	experimental factor	Xeroderma pigmentosum complementation group C
Orphanet:276258	\N	\N	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	75613	\N	\N	EFO	0	EFO	Xeroderma pigmentosum complementation group D	Xeroderma pigmentosum complementation group D
Orphanet:220295	Orphanet:276258	\N	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	218238	\N	\N	EFO	1	EFO	Xeroderma pigmentosum-Cockayne syndrome complex	Xeroderma pigmentosum complementation group D
Orphanet:910	Orphanet:276258	\N	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	218239	\N	\N	EFO	1	EFO	Xeroderma pigmentosum	Xeroderma pigmentosum complementation group D
Orphanet:139027	Orphanet:220295	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573227	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum complementation group D
Orphanet:183422	Orphanet:220295	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573228	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum complementation group D
Orphanet:183490	Orphanet:220295	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573229	\N	\N	EFO	2	EFO	Genetic photodermatosis	Xeroderma pigmentosum complementation group D
Orphanet:183763	Orphanet:220295	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573230	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Xeroderma pigmentosum complementation group D
Orphanet:363245	Orphanet:220295	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573231	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum complementation group D
Orphanet:79389	Orphanet:220295	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573232	\N	\N	EFO	2	EFO	Premature aging	Xeroderma pigmentosum complementation group D
Orphanet:90642	Orphanet:220295	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573233	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Xeroderma pigmentosum complementation group D
Orphanet:98097	Orphanet:220295	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573234	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Xeroderma pigmentosum complementation group D
Orphanet:98661	Orphanet:220295	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573235	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	Xeroderma pigmentosum complementation group D
Orphanet:139027	Orphanet:910	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573236	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum complementation group D
Orphanet:183422	Orphanet:910	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573237	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum complementation group D
Orphanet:183490	Orphanet:910	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573238	\N	\N	EFO	2	EFO	Genetic photodermatosis	Xeroderma pigmentosum complementation group D
Orphanet:363245	Orphanet:910	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573239	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum complementation group D
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155756	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group D
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155757	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Xeroderma pigmentosum complementation group D
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155758	\N	\N	EFO	3	EFO	Rare genetic skin disease	Xeroderma pigmentosum complementation group D
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155759	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Xeroderma pigmentosum complementation group D
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155760	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group D
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155761	\N	\N	EFO	3	EFO	Rare genetic skin disease	Xeroderma pigmentosum complementation group D
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155762	\N	\N	EFO	3	EFO	Rare genetic deafness	Xeroderma pigmentosum complementation group D
Orphanet:1172	Orphanet:98097	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155763	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Xeroderma pigmentosum complementation group D
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155764	\N	\N	EFO	3	EFO	Retinal dystrophy	Xeroderma pigmentosum complementation group D
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038605	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group D
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038606	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group D
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038607	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group D
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038608	\N	\N	EFO	4	EFO	skin disease	Xeroderma pigmentosum complementation group D
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038609	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group D
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038610	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group D
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038611	\N	\N	EFO	4	EFO	auditory system disease	Xeroderma pigmentosum complementation group D
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038612	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Xeroderma pigmentosum complementation group D
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038613	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Xeroderma pigmentosum complementation group D
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038614	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Xeroderma pigmentosum complementation group D
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038615	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Xeroderma pigmentosum complementation group D
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6778711	\N	\N	EFO	10	EFO	disease	Xeroderma pigmentosum complementation group D
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188877	\N	\N	EFO	5	EFO	disease	Xeroderma pigmentosum complementation group D
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633069	\N	\N	EFO	9	EFO	genetic disorder	Xeroderma pigmentosum complementation group D
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188879	\N	\N	EFO	5	EFO	sensory system disease	Xeroderma pigmentosum complementation group D
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188880	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group D
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188881	\N	\N	EFO	5	EFO	Ataxia with dementia	Xeroderma pigmentosum complementation group D
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188882	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Xeroderma pigmentosum complementation group D
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188883	\N	\N	EFO	5	EFO	Rare genetic eye disease	Xeroderma pigmentosum complementation group D
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7015689	\N	\N	EFO	11	EFO	disposition	Xeroderma pigmentosum complementation group D
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395876	\N	\N	EFO	6	EFO	nervous system disease	Xeroderma pigmentosum complementation group D
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395878	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Xeroderma pigmentosum complementation group D
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395879	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Xeroderma pigmentosum complementation group D
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150218	\N	\N	EFO	8	EFO	genetic disorder	Xeroderma pigmentosum complementation group D
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150219	\N	\N	EFO	8	EFO	eye disease	Xeroderma pigmentosum complementation group D
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7173637	\N	\N	EFO	12	EFO	material property	Xeroderma pigmentosum complementation group D
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6925824	\N	\N	EFO	10	EFO	disease	Xeroderma pigmentosum complementation group D
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413749	\N	\N	EFO	7	EFO	Genetic dementia	Xeroderma pigmentosum complementation group D
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413750	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Xeroderma pigmentosum complementation group D
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413751	\N	\N	EFO	7	EFO	Rare genetic eye disease	Xeroderma pigmentosum complementation group D
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6470403	\N	\N	EFO	9	EFO	disease	Xeroderma pigmentosum complementation group D
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7275679	\N	\N	EFO	13	EFO	experimental factor	Xeroderma pigmentosum complementation group D
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150213	\N	\N	EFO	8	EFO	brain disease	Xeroderma pigmentosum complementation group D
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150214	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group D
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150215	\N	\N	EFO	8	EFO	neurodegenerative disease	Xeroderma pigmentosum complementation group D
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150216	\N	\N	EFO	8	EFO	brain disease	Xeroderma pigmentosum complementation group D
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150217	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group D
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633068	\N	\N	EFO	9	EFO	nervous system disease	Xeroderma pigmentosum complementation group D
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276258	"Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633070	\N	\N	EFO	9	EFO	nervous system disease	Xeroderma pigmentosum complementation group D
Orphanet:276261	\N	\N	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	75614	\N	\N	EFO	0	EFO	Xeroderma pigmentosum complementation group E	Xeroderma pigmentosum complementation group E
Orphanet:910	Orphanet:276261	\N	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	218240	\N	\N	EFO	1	EFO	Xeroderma pigmentosum	Xeroderma pigmentosum complementation group E
Orphanet:139027	Orphanet:910	\N	"" []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573240	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum complementation group E
Orphanet:183422	Orphanet:910	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573241	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum complementation group E
Orphanet:183490	Orphanet:910	\N	"" []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573242	\N	\N	EFO	2	EFO	Genetic photodermatosis	Xeroderma pigmentosum complementation group E
Orphanet:363245	Orphanet:910	\N	"" []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573243	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum complementation group E
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155765	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group E
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155766	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Xeroderma pigmentosum complementation group E
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155767	\N	\N	EFO	3	EFO	Rare genetic skin disease	Xeroderma pigmentosum complementation group E
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155768	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group E
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038616	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group E
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038617	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group E
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038618	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group E
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038619	\N	\N	EFO	4	EFO	skin disease	Xeroderma pigmentosum complementation group E
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188884	\N	\N	EFO	5	EFO	disease	Xeroderma pigmentosum complementation group E
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188885	\N	\N	EFO	5	EFO	disease	Xeroderma pigmentosum complementation group E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395882	\N	\N	EFO	6	EFO	disposition	Xeroderma pigmentosum complementation group E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413753	\N	\N	EFO	7	EFO	material property	Xeroderma pigmentosum complementation group E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276261	"Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150220	\N	\N	EFO	8	EFO	experimental factor	Xeroderma pigmentosum complementation group E
Orphanet:276264	\N	\N	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	75615	\N	\N	EFO	0	EFO	Xeroderma pigmentosum complementation group F	Xeroderma pigmentosum complementation group F
Orphanet:220295	Orphanet:276264	\N	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	218241	\N	\N	EFO	1	EFO	Xeroderma pigmentosum-Cockayne syndrome complex	Xeroderma pigmentosum complementation group F
Orphanet:910	Orphanet:276264	\N	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	218242	\N	\N	EFO	1	EFO	Xeroderma pigmentosum	Xeroderma pigmentosum complementation group F
Orphanet:139027	Orphanet:220295	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573244	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum complementation group F
Orphanet:183422	Orphanet:220295	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573245	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum complementation group F
Orphanet:183490	Orphanet:220295	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573246	\N	\N	EFO	2	EFO	Genetic photodermatosis	Xeroderma pigmentosum complementation group F
Orphanet:183763	Orphanet:220295	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573247	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Xeroderma pigmentosum complementation group F
Orphanet:363245	Orphanet:220295	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573248	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum complementation group F
Orphanet:79389	Orphanet:220295	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573249	\N	\N	EFO	2	EFO	Premature aging	Xeroderma pigmentosum complementation group F
Orphanet:90642	Orphanet:220295	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573250	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Xeroderma pigmentosum complementation group F
Orphanet:98097	Orphanet:220295	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573251	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Xeroderma pigmentosum complementation group F
Orphanet:98661	Orphanet:220295	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573252	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	Xeroderma pigmentosum complementation group F
Orphanet:139027	Orphanet:910	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573253	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum complementation group F
Orphanet:183422	Orphanet:910	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573254	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum complementation group F
Orphanet:183490	Orphanet:910	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573255	\N	\N	EFO	2	EFO	Genetic photodermatosis	Xeroderma pigmentosum complementation group F
Orphanet:363245	Orphanet:910	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573256	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum complementation group F
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155769	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group F
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155770	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Xeroderma pigmentosum complementation group F
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155771	\N	\N	EFO	3	EFO	Rare genetic skin disease	Xeroderma pigmentosum complementation group F
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155772	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Xeroderma pigmentosum complementation group F
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155773	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group F
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155774	\N	\N	EFO	3	EFO	Rare genetic skin disease	Xeroderma pigmentosum complementation group F
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155775	\N	\N	EFO	3	EFO	Rare genetic deafness	Xeroderma pigmentosum complementation group F
Orphanet:1172	Orphanet:98097	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155776	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Xeroderma pigmentosum complementation group F
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155777	\N	\N	EFO	3	EFO	Retinal dystrophy	Xeroderma pigmentosum complementation group F
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038620	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group F
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038621	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group F
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038622	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group F
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038623	\N	\N	EFO	4	EFO	skin disease	Xeroderma pigmentosum complementation group F
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038624	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group F
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038625	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group F
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038626	\N	\N	EFO	4	EFO	auditory system disease	Xeroderma pigmentosum complementation group F
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038627	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Xeroderma pigmentosum complementation group F
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038628	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Xeroderma pigmentosum complementation group F
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038629	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Xeroderma pigmentosum complementation group F
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038630	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Xeroderma pigmentosum complementation group F
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6778713	\N	\N	EFO	10	EFO	disease	Xeroderma pigmentosum complementation group F
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188887	\N	\N	EFO	5	EFO	disease	Xeroderma pigmentosum complementation group F
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633072	\N	\N	EFO	9	EFO	genetic disorder	Xeroderma pigmentosum complementation group F
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188889	\N	\N	EFO	5	EFO	sensory system disease	Xeroderma pigmentosum complementation group F
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188890	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group F
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188891	\N	\N	EFO	5	EFO	Ataxia with dementia	Xeroderma pigmentosum complementation group F
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188892	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Xeroderma pigmentosum complementation group F
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188893	\N	\N	EFO	5	EFO	Rare genetic eye disease	Xeroderma pigmentosum complementation group F
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7015690	\N	\N	EFO	11	EFO	disposition	Xeroderma pigmentosum complementation group F
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395885	\N	\N	EFO	6	EFO	nervous system disease	Xeroderma pigmentosum complementation group F
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395887	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Xeroderma pigmentosum complementation group F
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395888	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Xeroderma pigmentosum complementation group F
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150227	\N	\N	EFO	8	EFO	genetic disorder	Xeroderma pigmentosum complementation group F
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150228	\N	\N	EFO	8	EFO	eye disease	Xeroderma pigmentosum complementation group F
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7173638	\N	\N	EFO	12	EFO	material property	Xeroderma pigmentosum complementation group F
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6925825	\N	\N	EFO	10	EFO	disease	Xeroderma pigmentosum complementation group F
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413756	\N	\N	EFO	7	EFO	Genetic dementia	Xeroderma pigmentosum complementation group F
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413757	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Xeroderma pigmentosum complementation group F
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413758	\N	\N	EFO	7	EFO	Rare genetic eye disease	Xeroderma pigmentosum complementation group F
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6470406	\N	\N	EFO	9	EFO	disease	Xeroderma pigmentosum complementation group F
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7275680	\N	\N	EFO	13	EFO	experimental factor	Xeroderma pigmentosum complementation group F
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150222	\N	\N	EFO	8	EFO	brain disease	Xeroderma pigmentosum complementation group F
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150223	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group F
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150224	\N	\N	EFO	8	EFO	neurodegenerative disease	Xeroderma pigmentosum complementation group F
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150225	\N	\N	EFO	8	EFO	brain disease	Xeroderma pigmentosum complementation group F
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150226	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group F
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633071	\N	\N	EFO	9	EFO	nervous system disease	Xeroderma pigmentosum complementation group F
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276264	"Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633073	\N	\N	EFO	9	EFO	nervous system disease	Xeroderma pigmentosum complementation group F
Orphanet:276267	\N	\N	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	75616	\N	\N	EFO	0	EFO	Xeroderma pigmentosum complementation group G	Xeroderma pigmentosum complementation group G
Orphanet:220295	Orphanet:276267	\N	"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	218243	\N	\N	EFO	1	EFO	Xeroderma pigmentosum-Cockayne syndrome complex	Xeroderma pigmentosum complementation group G
Orphanet:910	Orphanet:276267	\N	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	218244	\N	\N	EFO	1	EFO	Xeroderma pigmentosum	Xeroderma pigmentosum complementation group G
Orphanet:139027	Orphanet:220295	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573257	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum complementation group G
Orphanet:183422	Orphanet:220295	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573258	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum complementation group G
Orphanet:183490	Orphanet:220295	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573259	\N	\N	EFO	2	EFO	Genetic photodermatosis	Xeroderma pigmentosum complementation group G
Orphanet:183763	Orphanet:220295	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573260	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Xeroderma pigmentosum complementation group G
Orphanet:363245	Orphanet:220295	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573261	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum complementation group G
Orphanet:79389	Orphanet:220295	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573262	\N	\N	EFO	2	EFO	Premature aging	Xeroderma pigmentosum complementation group G
Orphanet:90642	Orphanet:220295	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573263	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Xeroderma pigmentosum complementation group G
Orphanet:98097	Orphanet:220295	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573264	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Xeroderma pigmentosum complementation group G
Orphanet:98661	Orphanet:220295	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573265	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	Xeroderma pigmentosum complementation group G
Orphanet:139027	Orphanet:910	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573266	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum complementation group G
Orphanet:183422	Orphanet:910	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573267	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum complementation group G
Orphanet:183490	Orphanet:910	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573268	\N	\N	EFO	2	EFO	Genetic photodermatosis	Xeroderma pigmentosum complementation group G
Orphanet:363245	Orphanet:910	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	573269	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum complementation group G
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155778	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group G
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155779	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Xeroderma pigmentosum complementation group G
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155780	\N	\N	EFO	3	EFO	Rare genetic skin disease	Xeroderma pigmentosum complementation group G
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155781	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Xeroderma pigmentosum complementation group G
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155782	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum complementation group G
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155783	\N	\N	EFO	3	EFO	Rare genetic skin disease	Xeroderma pigmentosum complementation group G
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155784	\N	\N	EFO	3	EFO	Rare genetic deafness	Xeroderma pigmentosum complementation group G
Orphanet:1172	Orphanet:98097	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155785	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Xeroderma pigmentosum complementation group G
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	1155786	\N	\N	EFO	3	EFO	Retinal dystrophy	Xeroderma pigmentosum complementation group G
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038631	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group G
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038632	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group G
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038633	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group G
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038634	\N	\N	EFO	4	EFO	skin disease	Xeroderma pigmentosum complementation group G
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038635	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group G
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038636	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum complementation group G
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038637	\N	\N	EFO	4	EFO	auditory system disease	Xeroderma pigmentosum complementation group G
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038638	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Xeroderma pigmentosum complementation group G
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038639	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Xeroderma pigmentosum complementation group G
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038640	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Xeroderma pigmentosum complementation group G
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	2038641	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Xeroderma pigmentosum complementation group G
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6778715	\N	\N	EFO	10	EFO	disease	Xeroderma pigmentosum complementation group G
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188895	\N	\N	EFO	5	EFO	disease	Xeroderma pigmentosum complementation group G
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633075	\N	\N	EFO	9	EFO	genetic disorder	Xeroderma pigmentosum complementation group G
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188897	\N	\N	EFO	5	EFO	sensory system disease	Xeroderma pigmentosum complementation group G
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188898	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group G
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188899	\N	\N	EFO	5	EFO	Ataxia with dementia	Xeroderma pigmentosum complementation group G
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188900	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Xeroderma pigmentosum complementation group G
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	3188901	\N	\N	EFO	5	EFO	Rare genetic eye disease	Xeroderma pigmentosum complementation group G
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7015691	\N	\N	EFO	11	EFO	disposition	Xeroderma pigmentosum complementation group G
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395893	\N	\N	EFO	6	EFO	nervous system disease	Xeroderma pigmentosum complementation group G
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395895	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Xeroderma pigmentosum complementation group G
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	4395896	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Xeroderma pigmentosum complementation group G
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150235	\N	\N	EFO	8	EFO	genetic disorder	Xeroderma pigmentosum complementation group G
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150236	\N	\N	EFO	8	EFO	eye disease	Xeroderma pigmentosum complementation group G
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7173639	\N	\N	EFO	12	EFO	material property	Xeroderma pigmentosum complementation group G
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6925826	\N	\N	EFO	10	EFO	disease	Xeroderma pigmentosum complementation group G
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413762	\N	\N	EFO	7	EFO	Genetic dementia	Xeroderma pigmentosum complementation group G
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413763	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Xeroderma pigmentosum complementation group G
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	5413764	\N	\N	EFO	7	EFO	Rare genetic eye disease	Xeroderma pigmentosum complementation group G
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6470409	\N	\N	EFO	9	EFO	disease	Xeroderma pigmentosum complementation group G
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	7275681	\N	\N	EFO	13	EFO	experimental factor	Xeroderma pigmentosum complementation group G
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150230	\N	\N	EFO	8	EFO	brain disease	Xeroderma pigmentosum complementation group G
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150231	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group G
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150232	\N	\N	EFO	8	EFO	neurodegenerative disease	Xeroderma pigmentosum complementation group G
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150233	\N	\N	EFO	8	EFO	brain disease	Xeroderma pigmentosum complementation group G
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6150234	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Xeroderma pigmentosum complementation group G
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633074	\N	\N	EFO	9	EFO	nervous system disease	Xeroderma pigmentosum complementation group G
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:276267	"Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." []	6633076	\N	\N	EFO	9	EFO	nervous system disease	Xeroderma pigmentosum complementation group G
Orphanet:276280	\N	\N	"" []	Orphanet:276280	"" []	75617	\N	\N	EFO	0	EFO	Hemihyperplasia-multiple lipomatosis syndrome	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:156237	Orphanet:276280	\N	"" []	Orphanet:276280	"" []	218245	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:183487	Orphanet:276280	\N	"" []	Orphanet:276280	"" []	218246	\N	\N	EFO	1	EFO	Genetic skin tumor	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:211240	Orphanet:276280	\N	"" []	Orphanet:276280	"" []	218247	\N	\N	EFO	1	EFO	Genetic vascular anomaly	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:93460	Orphanet:276280	\N	"" []	Orphanet:276280	"" []	218248	\N	\N	EFO	1	EFO	Overgrowth syndrome	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:98196	Orphanet:276280	\N	"" []	Orphanet:276280	"" []	218249	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:276280	"" []	573270	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Hemihyperplasia-multiple lipomatosis syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:276280	"" []	573271	\N	\N	EFO	2	EFO	skin neoplasm	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:276280	"" []	573272	\N	\N	EFO	2	EFO	Rare genetic tumor	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:276280	"" []	573273	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:276280	"" []	573274	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:276280	"" []	573275	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:276280	"" []	1155787	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Hemihyperplasia-multiple lipomatosis syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:276280	"" []	1155788	\N	\N	EFO	3	EFO	neoplasm	Hemihyperplasia-multiple lipomatosis syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:276280	"" []	1155789	\N	\N	EFO	3	EFO	skin disease	Hemihyperplasia-multiple lipomatosis syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276280	"" []	1155790	\N	\N	EFO	3	EFO	genetic disorder	Hemihyperplasia-multiple lipomatosis syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:276280	"" []	1155791	\N	\N	EFO	3	EFO	neoplasm	Hemihyperplasia-multiple lipomatosis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276280	"" []	3188902	\N	\N	EFO	5	EFO	genetic disorder	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:276280	"" []	1155793	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:276280	"" []	2038642	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hemihyperplasia-multiple lipomatosis syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276280	"" []	2038643	\N	\N	EFO	4	EFO	disease	Hemihyperplasia-multiple lipomatosis syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276280	"" []	2038644	\N	\N	EFO	4	EFO	disease	Hemihyperplasia-multiple lipomatosis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276280	"" []	4066909	\N	\N	EFO	6	EFO	disease	Hemihyperplasia-multiple lipomatosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276280	"" []	5059883	\N	\N	EFO	7	EFO	disposition	Hemihyperplasia-multiple lipomatosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276280	"" []	5877179	\N	\N	EFO	8	EFO	material property	Hemihyperplasia-multiple lipomatosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276280	"" []	6470410	\N	\N	EFO	9	EFO	experimental factor	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:2763	\N	\N	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	75618	\N	\N	EFO	0	EFO	Osteocraniostenosis	Osteocraniostenosis
Orphanet:93440	Orphanet:2763	\N	"" []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	218250	\N	\N	EFO	1	EFO	Slender bone dysplasia	Osteocraniostenosis
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	573276	\N	\N	EFO	2	EFO	Primary bone dysplasia	Osteocraniostenosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	1155794	\N	\N	EFO	3	EFO	Rare genetic bone disease	Osteocraniostenosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	1155795	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Osteocraniostenosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	2038647	\N	\N	EFO	4	EFO	genetic disorder	Osteocraniostenosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	2038648	\N	\N	EFO	4	EFO	bone disease	Osteocraniostenosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	2038649	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Osteocraniostenosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	4395902	\N	\N	EFO	6	EFO	disease	Osteocraniostenosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	3188905	\N	\N	EFO	5	EFO	skeletal system disease	Osteocraniostenosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	3188906	\N	\N	EFO	5	EFO	genetic disorder	Osteocraniostenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	5182344	\N	\N	EFO	7	EFO	disposition	Osteocraniostenosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	4395901	\N	\N	EFO	6	EFO	disease	Osteocraniostenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	5997692	\N	\N	EFO	8	EFO	material property	Osteocraniostenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2763	"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." []	6551022	\N	\N	EFO	9	EFO	experimental factor	Osteocraniostenosis
Orphanet:276399	\N	\N	"" []	Orphanet:276399	"" []	75619	\N	\N	EFO	0	EFO	Familial multinodular goiter	Familial multinodular goiter
Orphanet:140162	Orphanet:276399	\N	"" []	Orphanet:276399	"" []	218251	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Familial multinodular goiter
Orphanet:183631	Orphanet:276399	\N	"" []	Orphanet:276399	"" []	218252	\N	\N	EFO	1	EFO	Rare genetic thyroid disease	Familial multinodular goiter
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276399	"" []	573277	\N	\N	EFO	2	EFO	genetic disorder	Familial multinodular goiter
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:276399	"" []	573278	\N	\N	EFO	2	EFO	thyroid disease	Familial multinodular goiter
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:276399	"" []	573279	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Familial multinodular goiter
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276399	"" []	2038652	\N	\N	EFO	4	EFO	disease	Familial multinodular goiter
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276399	"" []	1155797	\N	\N	EFO	3	EFO	endocrine system disease	Familial multinodular goiter
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276399	"" []	1155798	\N	\N	EFO	3	EFO	genetic disorder	Familial multinodular goiter
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276399	"" []	1155799	\N	\N	EFO	3	EFO	endocrine system disease	Familial multinodular goiter
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276399	"" []	3000274	\N	\N	EFO	5	EFO	disposition	Familial multinodular goiter
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276399	"" []	2038651	\N	\N	EFO	4	EFO	disease	Familial multinodular goiter
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276399	"" []	4133751	\N	\N	EFO	6	EFO	material property	Familial multinodular goiter
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276399	"" []	5182345	\N	\N	EFO	7	EFO	experimental factor	Familial multinodular goiter
Orphanet:276405	\N	\N	"" []	Orphanet:276405	"" []	75620	\N	\N	EFO	0	EFO	Hyperbiliverdinemia	Hyperbiliverdinemia
Orphanet:156601	Orphanet:276405	\N	"" []	Orphanet:276405	"" []	218253	\N	\N	EFO	1	EFO	Rare genetic hepatic disease	Hyperbiliverdinemia
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:276405	"" []	573280	\N	\N	EFO	2	EFO	digestive system disease	Hyperbiliverdinemia
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276405	"" []	573281	\N	\N	EFO	2	EFO	genetic disorder	Hyperbiliverdinemia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276405	"" []	1155800	\N	\N	EFO	3	EFO	disease	Hyperbiliverdinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276405	"" []	1155801	\N	\N	EFO	3	EFO	disease	Hyperbiliverdinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276405	"" []	2038653	\N	\N	EFO	4	EFO	disposition	Hyperbiliverdinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276405	"" []	3188908	\N	\N	EFO	5	EFO	material property	Hyperbiliverdinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276405	"" []	4395904	\N	\N	EFO	6	EFO	experimental factor	Hyperbiliverdinemia
Orphanet:276413	\N	\N	"" []	Orphanet:276413	"" []	75621	\N	\N	EFO	0	EFO	10q22.3q23.3 microdeletion syndrome	10q22.3q23.3 microdeletion syndrome
Orphanet:262083	Orphanet:276413	\N	"" []	Orphanet:276413	"" []	218254	\N	\N	EFO	1	EFO	Partial monosomy of the long arm of chromosome 10	10q22.3q23.3 microdeletion syndrome
Orphanet:261811	Orphanet:262083	\N	"" []	Orphanet:276413	"" []	573282	\N	\N	EFO	2	EFO	Partial deletion of chromosome 10	10q22.3q23.3 microdeletion syndrome
Orphanet:98142	Orphanet:261811	\N	"" []	Orphanet:276413	"" []	1155802	\N	\N	EFO	3	EFO	Partial autosomal monosomy	10q22.3q23.3 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:276413	"" []	2038654	\N	\N	EFO	4	EFO	Autosomal monosomy	10q22.3q23.3 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:276413	"" []	3188909	\N	\N	EFO	5	EFO	Autosomal anomaly	10q22.3q23.3 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:276413	"" []	4395905	\N	\N	EFO	6	EFO	Chromosomal anomaly	10q22.3q23.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276413	"" []	5413768	\N	\N	EFO	7	EFO	genetic disorder	10q22.3q23.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276413	"" []	6150238	\N	\N	EFO	8	EFO	disease	10q22.3q23.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276413	"" []	6633077	\N	\N	EFO	9	EFO	disposition	10q22.3q23.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276413	"" []	6925827	\N	\N	EFO	10	EFO	material property	10q22.3q23.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276413	"" []	7099162	\N	\N	EFO	11	EFO	experimental factor	10q22.3q23.3 microdeletion syndrome
Orphanet:276422	\N	\N	"" []	Orphanet:276422	"" []	75622	\N	\N	EFO	0	EFO	10q22.3q23.3 microduplication syndrome	10q22.3q23.3 microduplication syndrome
Orphanet:262914	Orphanet:276422	\N	"" []	Orphanet:276422	"" []	218255	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 10	10q22.3q23.3 microduplication syndrome
Orphanet:262648	Orphanet:262914	\N	"" []	Orphanet:276422	"" []	573283	\N	\N	EFO	2	EFO	Partial duplication of chromosome 10	10q22.3q23.3 microduplication syndrome
Orphanet:98132	Orphanet:262648	\N	"" []	Orphanet:276422	"" []	1155803	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	10q22.3q23.3 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:276422	"" []	2038655	\N	\N	EFO	4	EFO	Autosomal trisomy	10q22.3q23.3 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:276422	"" []	3188910	\N	\N	EFO	5	EFO	Autosomal anomaly	10q22.3q23.3 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:276422	"" []	4395906	\N	\N	EFO	6	EFO	Chromosomal anomaly	10q22.3q23.3 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276422	"" []	5413769	\N	\N	EFO	7	EFO	genetic disorder	10q22.3q23.3 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276422	"" []	6150239	\N	\N	EFO	8	EFO	disease	10q22.3q23.3 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276422	"" []	6633078	\N	\N	EFO	9	EFO	disposition	10q22.3q23.3 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276422	"" []	6925828	\N	\N	EFO	10	EFO	material property	10q22.3q23.3 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276422	"" []	7099163	\N	\N	EFO	11	EFO	experimental factor	10q22.3q23.3 microduplication syndrome
Orphanet:276432	\N	\N	"" []	Orphanet:276432	"" []	75623	\N	\N	EFO	0	EFO	Premature aging appearance-developmental delay-cardiac arrhythmia syndrome	Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
Orphanet:363245	Orphanet:276432	\N	"" []	Orphanet:276432	"" []	218256	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:276432	"" []	573284	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276432	"" []	1155804	\N	\N	EFO	3	EFO	genetic disorder	Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276432	"" []	2038656	\N	\N	EFO	4	EFO	disease	Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276432	"" []	3188911	\N	\N	EFO	5	EFO	disposition	Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276432	"" []	4395907	\N	\N	EFO	6	EFO	material property	Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276432	"" []	5413770	\N	\N	EFO	7	EFO	experimental factor	Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
Orphanet:276435	\N	\N	"" []	Orphanet:276435	"" []	75624	\N	\N	EFO	0	EFO	Lower motor neuron syndrome with late-adult onset	Lower motor neuron syndrome with late-adult onset
Orphanet:211037	Orphanet:276435	\N	"" []	Orphanet:276435	"" []	218257	\N	\N	EFO	1	EFO	Autosomal dominant proximal spinal muscular atrophy	Lower motor neuron syndrome with late-adult onset
Orphanet:98505	Orphanet:211037	\N	"" []	Orphanet:276435	"" []	573285	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Lower motor neuron syndrome with late-adult onset
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:276435	"" []	1155805	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Lower motor neuron syndrome with late-adult onset
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:276435	"" []	2038657	\N	\N	EFO	4	EFO	muscular disease	Lower motor neuron syndrome with late-adult onset
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:276435	"" []	2038658	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lower motor neuron syndrome with late-adult onset
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:276435	"" []	3188912	\N	\N	EFO	5	EFO	skeletal system disease	Lower motor neuron syndrome with late-adult onset
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276435	"" []	3188913	\N	\N	EFO	5	EFO	genetic disorder	Lower motor neuron syndrome with late-adult onset
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276435	"" []	4395908	\N	\N	EFO	6	EFO	disease	Lower motor neuron syndrome with late-adult onset
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276435	"" []	4395909	\N	\N	EFO	6	EFO	disease	Lower motor neuron syndrome with late-adult onset
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276435	"" []	5413771	\N	\N	EFO	7	EFO	disposition	Lower motor neuron syndrome with late-adult onset
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276435	"" []	6150240	\N	\N	EFO	8	EFO	material property	Lower motor neuron syndrome with late-adult onset
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276435	"" []	6633079	\N	\N	EFO	9	EFO	experimental factor	Lower motor neuron syndrome with late-adult onset
Orphanet:276525	\N	\N	"" []	Orphanet:276525	"" []	75625	\N	\N	EFO	0	EFO	Familial hyperinsulinism	Familial hyperinsulinism
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:276525	"" []	218258	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Familial hyperinsulinism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276525	"" []	573286	\N	\N	EFO	2	EFO	genetic disorder	Familial hyperinsulinism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276525	"" []	573287	\N	\N	EFO	2	EFO	endocrine system disease	Familial hyperinsulinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276525	"" []	1155806	\N	\N	EFO	3	EFO	disease	Familial hyperinsulinism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276525	"" []	1155807	\N	\N	EFO	3	EFO	disease	Familial hyperinsulinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276525	"" []	2038659	\N	\N	EFO	4	EFO	disposition	Familial hyperinsulinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276525	"" []	3188914	\N	\N	EFO	5	EFO	material property	Familial hyperinsulinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276525	"" []	4395910	\N	\N	EFO	6	EFO	experimental factor	Familial hyperinsulinism
Orphanet:276556	\N	\N	"" []	Orphanet:276556	"" []	75626	\N	\N	EFO	0	EFO	Hyperinsulinism due to UCP2 deficiency	Hyperinsulinism due to UCP2 deficiency
Orphanet:165985	Orphanet:276556	\N	"" []	Orphanet:276556	"" []	218259	\N	\N	EFO	1	EFO	Diazoxide-sensitive diffuse hyperinsulinism	Hyperinsulinism due to UCP2 deficiency
Orphanet:657	Orphanet:165985	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:276556	"" []	573288	\N	\N	EFO	2	EFO	Congenital isolated hyperinsulinism	Hyperinsulinism due to UCP2 deficiency
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:276556	"" []	1155808	\N	\N	EFO	3	EFO	Familial hyperinsulinism	Hyperinsulinism due to UCP2 deficiency
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:276556	"" []	1155809	\N	\N	EFO	3	EFO	Overgrowth syndrome	Hyperinsulinism due to UCP2 deficiency
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:276556	"" []	2038660	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hyperinsulinism due to UCP2 deficiency
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:276556	"" []	2038661	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Hyperinsulinism due to UCP2 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276556	"" []	3188915	\N	\N	EFO	5	EFO	genetic disorder	Hyperinsulinism due to UCP2 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276556	"" []	3188916	\N	\N	EFO	5	EFO	endocrine system disease	Hyperinsulinism due to UCP2 deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:276556	"" []	3188917	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hyperinsulinism due to UCP2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276556	"" []	5413773	\N	\N	EFO	7	EFO	disease	Hyperinsulinism due to UCP2 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276556	"" []	4395912	\N	\N	EFO	6	EFO	disease	Hyperinsulinism due to UCP2 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276556	"" []	4395913	\N	\N	EFO	6	EFO	genetic disorder	Hyperinsulinism due to UCP2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276556	"" []	5997693	\N	\N	EFO	8	EFO	disposition	Hyperinsulinism due to UCP2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276556	"" []	6551023	\N	\N	EFO	9	EFO	material property	Hyperinsulinism due to UCP2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276556	"" []	6889207	\N	\N	EFO	10	EFO	experimental factor	Hyperinsulinism due to UCP2 deficiency
Orphanet:276575	\N	\N	"" []	Orphanet:276575	"" []	75627	\N	\N	EFO	0	EFO	Autosomal dominant hyperinsulinism due to SUR1 deficiency	Autosomal dominant hyperinsulinism due to SUR1 deficiency
Orphanet:165985	Orphanet:276575	\N	"" []	Orphanet:276575	"" []	218260	\N	\N	EFO	1	EFO	Diazoxide-sensitive diffuse hyperinsulinism	Autosomal dominant hyperinsulinism due to SUR1 deficiency
Orphanet:657	Orphanet:165985	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:276575	"" []	573289	\N	\N	EFO	2	EFO	Congenital isolated hyperinsulinism	Autosomal dominant hyperinsulinism due to SUR1 deficiency
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:276575	"" []	1155810	\N	\N	EFO	3	EFO	Familial hyperinsulinism	Autosomal dominant hyperinsulinism due to SUR1 deficiency
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:276575	"" []	1155811	\N	\N	EFO	3	EFO	Overgrowth syndrome	Autosomal dominant hyperinsulinism due to SUR1 deficiency
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:276575	"" []	2038662	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Autosomal dominant hyperinsulinism due to SUR1 deficiency
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:276575	"" []	2038663	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Autosomal dominant hyperinsulinism due to SUR1 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276575	"" []	3188918	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant hyperinsulinism due to SUR1 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276575	"" []	3188919	\N	\N	EFO	5	EFO	endocrine system disease	Autosomal dominant hyperinsulinism due to SUR1 deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:276575	"" []	3188920	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant hyperinsulinism due to SUR1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276575	"" []	5413775	\N	\N	EFO	7	EFO	disease	Autosomal dominant hyperinsulinism due to SUR1 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276575	"" []	4395915	\N	\N	EFO	6	EFO	disease	Autosomal dominant hyperinsulinism due to SUR1 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276575	"" []	4395916	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant hyperinsulinism due to SUR1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276575	"" []	5997694	\N	\N	EFO	8	EFO	disposition	Autosomal dominant hyperinsulinism due to SUR1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276575	"" []	6551024	\N	\N	EFO	9	EFO	material property	Autosomal dominant hyperinsulinism due to SUR1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276575	"" []	6889208	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant hyperinsulinism due to SUR1 deficiency
Orphanet:276580	\N	\N	"" []	Orphanet:276580	"" []	75628	\N	\N	EFO	0	EFO	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Orphanet:165985	Orphanet:276580	\N	"" []	Orphanet:276580	"" []	218261	\N	\N	EFO	1	EFO	Diazoxide-sensitive diffuse hyperinsulinism	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Orphanet:657	Orphanet:165985	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:276580	"" []	573290	\N	\N	EFO	2	EFO	Congenital isolated hyperinsulinism	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:276580	"" []	1155812	\N	\N	EFO	3	EFO	Familial hyperinsulinism	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:276580	"" []	1155813	\N	\N	EFO	3	EFO	Overgrowth syndrome	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:276580	"" []	2038664	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:276580	"" []	2038665	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276580	"" []	3188921	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276580	"" []	3188922	\N	\N	EFO	5	EFO	endocrine system disease	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:276580	"" []	3188923	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276580	"" []	5413777	\N	\N	EFO	7	EFO	disease	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276580	"" []	4395918	\N	\N	EFO	6	EFO	disease	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276580	"" []	4395919	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276580	"" []	5997695	\N	\N	EFO	8	EFO	disposition	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276580	"" []	6551025	\N	\N	EFO	9	EFO	material property	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276580	"" []	6889209	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Orphanet:276585	\N	\N	"" []	Orphanet:276585	"" []	75629	\N	\N	EFO	0	EFO	Diazoxide-resistant hyperinsulinism	Diazoxide-resistant hyperinsulinism
Orphanet:657	Orphanet:276585	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:276585	"" []	218262	\N	\N	EFO	1	EFO	Congenital isolated hyperinsulinism	Diazoxide-resistant hyperinsulinism
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:276585	"" []	573291	\N	\N	EFO	2	EFO	Familial hyperinsulinism	Diazoxide-resistant hyperinsulinism
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:276585	"" []	573292	\N	\N	EFO	2	EFO	Overgrowth syndrome	Diazoxide-resistant hyperinsulinism
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:276585	"" []	1155814	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Diazoxide-resistant hyperinsulinism
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:276585	"" []	1155815	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Diazoxide-resistant hyperinsulinism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276585	"" []	2038666	\N	\N	EFO	4	EFO	genetic disorder	Diazoxide-resistant hyperinsulinism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276585	"" []	2038667	\N	\N	EFO	4	EFO	endocrine system disease	Diazoxide-resistant hyperinsulinism
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:276585	"" []	2038668	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Diazoxide-resistant hyperinsulinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276585	"" []	4395921	\N	\N	EFO	6	EFO	disease	Diazoxide-resistant hyperinsulinism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276585	"" []	3188925	\N	\N	EFO	5	EFO	disease	Diazoxide-resistant hyperinsulinism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276585	"" []	3188926	\N	\N	EFO	5	EFO	genetic disorder	Diazoxide-resistant hyperinsulinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276585	"" []	5182346	\N	\N	EFO	7	EFO	disposition	Diazoxide-resistant hyperinsulinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276585	"" []	5997696	\N	\N	EFO	8	EFO	material property	Diazoxide-resistant hyperinsulinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276585	"" []	6551026	\N	\N	EFO	9	EFO	experimental factor	Diazoxide-resistant hyperinsulinism
Orphanet:276598	\N	\N	"" []	Orphanet:276598	"" []	75630	\N	\N	EFO	0	EFO	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Orphanet:79298	Orphanet:276598	\N	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	Orphanet:276598	"" []	218263	\N	\N	EFO	1	EFO	Diazoxide-resistant focal hyperinsulinism	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Orphanet:276585	Orphanet:79298	\N	"" []	Orphanet:276598	"" []	573293	\N	\N	EFO	2	EFO	Diazoxide-resistant hyperinsulinism	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Orphanet:657	Orphanet:276585	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:276598	"" []	1155816	\N	\N	EFO	3	EFO	Congenital isolated hyperinsulinism	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:276598	"" []	2038669	\N	\N	EFO	4	EFO	Familial hyperinsulinism	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:276598	"" []	2038670	\N	\N	EFO	4	EFO	Overgrowth syndrome	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:276598	"" []	3188927	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:276598	"" []	3188928	\N	\N	EFO	5	EFO	Genetic overgrowth/obesity syndrome	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276598	"" []	4395922	\N	\N	EFO	6	EFO	genetic disorder	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276598	"" []	4395923	\N	\N	EFO	6	EFO	endocrine system disease	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:276598	"" []	4395924	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276598	"" []	6150246	\N	\N	EFO	8	EFO	disease	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276598	"" []	5413780	\N	\N	EFO	7	EFO	disease	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276598	"" []	5413781	\N	\N	EFO	7	EFO	genetic disorder	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276598	"" []	6551027	\N	\N	EFO	9	EFO	disposition	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276598	"" []	6889210	\N	\N	EFO	10	EFO	material property	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276598	"" []	7085932	\N	\N	EFO	11	EFO	experimental factor	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Orphanet:276603	\N	\N	"" []	Orphanet:276603	"" []	75631	\N	\N	EFO	0	EFO	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Orphanet:79298	Orphanet:276603	\N	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	Orphanet:276603	"" []	218264	\N	\N	EFO	1	EFO	Diazoxide-resistant focal hyperinsulinism	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Orphanet:276585	Orphanet:79298	\N	"" []	Orphanet:276603	"" []	573294	\N	\N	EFO	2	EFO	Diazoxide-resistant hyperinsulinism	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Orphanet:657	Orphanet:276585	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:276603	"" []	1155817	\N	\N	EFO	3	EFO	Congenital isolated hyperinsulinism	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:276603	"" []	2038671	\N	\N	EFO	4	EFO	Familial hyperinsulinism	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:276603	"" []	2038672	\N	\N	EFO	4	EFO	Overgrowth syndrome	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:276603	"" []	3188929	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:276603	"" []	3188930	\N	\N	EFO	5	EFO	Genetic overgrowth/obesity syndrome	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276603	"" []	4395925	\N	\N	EFO	6	EFO	genetic disorder	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276603	"" []	4395926	\N	\N	EFO	6	EFO	endocrine system disease	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:276603	"" []	4395927	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276603	"" []	6150248	\N	\N	EFO	8	EFO	disease	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276603	"" []	5413783	\N	\N	EFO	7	EFO	disease	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276603	"" []	5413784	\N	\N	EFO	7	EFO	genetic disorder	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276603	"" []	6551028	\N	\N	EFO	9	EFO	disposition	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276603	"" []	6889211	\N	\N	EFO	10	EFO	material property	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276603	"" []	7085933	\N	\N	EFO	11	EFO	experimental factor	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Orphanet:276608	\N	\N	"Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" []	Orphanet:276608	"Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" []	75632	\N	\N	EFO	0	EFO	Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia	Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
Orphanet:276525	Orphanet:276608	\N	"" []	Orphanet:276608	"Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" []	218265	\N	\N	EFO	1	EFO	Familial hyperinsulinism	Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:276608	"Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" []	573295	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276608	"Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" []	1155818	\N	\N	EFO	3	EFO	genetic disorder	Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:276608	"Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" []	1155819	\N	\N	EFO	3	EFO	endocrine system disease	Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276608	"Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" []	2038673	\N	\N	EFO	4	EFO	disease	Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276608	"Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" []	2038674	\N	\N	EFO	4	EFO	disease	Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276608	"Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" []	3188931	\N	\N	EFO	5	EFO	disposition	Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276608	"Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" []	4395928	\N	\N	EFO	6	EFO	material property	Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276608	"Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" []	5413785	\N	\N	EFO	7	EFO	experimental factor	Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
Orphanet:276630	\N	\N	"" []	Orphanet:276630	"" []	75633	\N	\N	EFO	0	EFO	Symptomatic form of Coffin-Lowry syndrome in female carriers	Symptomatic form of Coffin-Lowry syndrome in female carriers
Orphanet:330197	Orphanet:276630	\N	"" []	Orphanet:276630	"" []	218266	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Symptomatic form of Coffin-Lowry syndrome in female carriers
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:276630	"" []	573296	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Symptomatic form of Coffin-Lowry syndrome in female carriers
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:276630	"" []	1155820	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Symptomatic form of Coffin-Lowry syndrome in female carriers
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:276630	"" []	2038675	\N	\N	EFO	4	EFO	genetic disorder	Symptomatic form of Coffin-Lowry syndrome in female carriers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:276630	"" []	3188932	\N	\N	EFO	5	EFO	disease	Symptomatic form of Coffin-Lowry syndrome in female carriers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:276630	"" []	4395929	\N	\N	EFO	6	EFO	disposition	Symptomatic form of Coffin-Lowry syndrome in female carriers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:276630	"" []	5413786	\N	\N	EFO	7	EFO	material property	Symptomatic form of Coffin-Lowry syndrome in female carriers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:276630	"" []	6150249	\N	\N	EFO	8	EFO	experimental factor	Symptomatic form of Coffin-Lowry syndrome in female carriers
Orphanet:2767	\N	\N	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	75634	\N	\N	EFO	0	EFO	Carpotarsal osteochondromatosis	Carpotarsal osteochondromatosis
Orphanet:93450	Orphanet:2767	\N	"" []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	218267	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Carpotarsal osteochondromatosis
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	573297	\N	\N	EFO	2	EFO	Primary bone dysplasia	Carpotarsal osteochondromatosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	1155821	\N	\N	EFO	3	EFO	Rare genetic bone disease	Carpotarsal osteochondromatosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	1155822	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Carpotarsal osteochondromatosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	2038676	\N	\N	EFO	4	EFO	genetic disorder	Carpotarsal osteochondromatosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	2038677	\N	\N	EFO	4	EFO	bone disease	Carpotarsal osteochondromatosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	2038678	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Carpotarsal osteochondromatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	4395932	\N	\N	EFO	6	EFO	disease	Carpotarsal osteochondromatosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	3188934	\N	\N	EFO	5	EFO	skeletal system disease	Carpotarsal osteochondromatosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	3188935	\N	\N	EFO	5	EFO	genetic disorder	Carpotarsal osteochondromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	5182347	\N	\N	EFO	7	EFO	disposition	Carpotarsal osteochondromatosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	4395931	\N	\N	EFO	6	EFO	disease	Carpotarsal osteochondromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	5997697	\N	\N	EFO	8	EFO	material property	Carpotarsal osteochondromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2767	"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." []	6551029	\N	\N	EFO	9	EFO	experimental factor	Carpotarsal osteochondromatosis
Orphanet:2768	\N	\N	"" []	Orphanet:2768	"" []	75635	\N	\N	EFO	0	EFO	Blount disease	Blount disease
Orphanet:93439	Orphanet:2768	\N	"" []	Orphanet:2768	"" []	218268	\N	\N	EFO	1	EFO	Bent bone dysplasia	Blount disease
Orphanet:364526	Orphanet:93439	\N	"" []	Orphanet:2768	"" []	573298	\N	\N	EFO	2	EFO	Primary bone dysplasia	Blount disease
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2768	"" []	1155823	\N	\N	EFO	3	EFO	Rare genetic bone disease	Blount disease
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2768	"" []	1155824	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Blount disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2768	"" []	2038679	\N	\N	EFO	4	EFO	genetic disorder	Blount disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2768	"" []	2038680	\N	\N	EFO	4	EFO	bone disease	Blount disease
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2768	"" []	2038681	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Blount disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2768	"" []	4395935	\N	\N	EFO	6	EFO	disease	Blount disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2768	"" []	3188937	\N	\N	EFO	5	EFO	skeletal system disease	Blount disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2768	"" []	3188938	\N	\N	EFO	5	EFO	genetic disorder	Blount disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2768	"" []	5182348	\N	\N	EFO	7	EFO	disposition	Blount disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2768	"" []	4395934	\N	\N	EFO	6	EFO	disease	Blount disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2768	"" []	5997698	\N	\N	EFO	8	EFO	material property	Blount disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2768	"" []	6551030	\N	\N	EFO	9	EFO	experimental factor	Blount disease
Orphanet:2769	\N	\N	"" []	Orphanet:2769	"" []	75636	\N	\N	EFO	0	EFO	Familial osteodysplasia, Anderson type	Familial osteodysplasia, Anderson type
Orphanet:93453	Orphanet:2769	\N	"" []	Orphanet:2769	"" []	218269	\N	\N	EFO	1	EFO	Dysostosis with predominant craniofacial involvement	Familial osteodysplasia, Anderson type
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:2769	"" []	573299	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Familial osteodysplasia, Anderson type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2769	"" []	1155825	\N	\N	EFO	3	EFO	Rare genetic bone disease	Familial osteodysplasia, Anderson type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2769	"" []	1155826	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Familial osteodysplasia, Anderson type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2769	"" []	2038682	\N	\N	EFO	4	EFO	genetic disorder	Familial osteodysplasia, Anderson type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2769	"" []	2038683	\N	\N	EFO	4	EFO	bone disease	Familial osteodysplasia, Anderson type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2769	"" []	2038684	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial osteodysplasia, Anderson type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2769	"" []	4395938	\N	\N	EFO	6	EFO	disease	Familial osteodysplasia, Anderson type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2769	"" []	3188940	\N	\N	EFO	5	EFO	skeletal system disease	Familial osteodysplasia, Anderson type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2769	"" []	3188941	\N	\N	EFO	5	EFO	genetic disorder	Familial osteodysplasia, Anderson type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2769	"" []	5182349	\N	\N	EFO	7	EFO	disposition	Familial osteodysplasia, Anderson type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2769	"" []	4395937	\N	\N	EFO	6	EFO	disease	Familial osteodysplasia, Anderson type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2769	"" []	5997699	\N	\N	EFO	8	EFO	material property	Familial osteodysplasia, Anderson type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2769	"" []	6551031	\N	\N	EFO	9	EFO	experimental factor	Familial osteodysplasia, Anderson type
Orphanet:277	\N	\N	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	75637	\N	\N	EFO	0	EFO	Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency due to adenosine deaminase deficiency
Orphanet:317419	Orphanet:277	\N	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	218270	\N	\N	EFO	1	EFO	T-B- severe combined immunodeficiency	Severe combined immunodeficiency due to adenosine deaminase deficiency
Orphanet:79191	Orphanet:277	\N	"" []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	218271	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Severe combined immunodeficiency due to adenosine deaminase deficiency
Orphanet:183660	Orphanet:317419	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	573300	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	Severe combined immunodeficiency due to adenosine deaminase deficiency
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	573301	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Severe combined immunodeficiency due to adenosine deaminase deficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	1155827	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	Severe combined immunodeficiency due to adenosine deaminase deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	1155828	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Severe combined immunodeficiency due to adenosine deaminase deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	2038685	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Severe combined immunodeficiency due to adenosine deaminase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	2038686	\N	\N	EFO	4	EFO	genetic disorder	Severe combined immunodeficiency due to adenosine deaminase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	2038687	\N	\N	EFO	4	EFO	metabolic disease	Severe combined immunodeficiency due to adenosine deaminase deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	3188942	\N	\N	EFO	5	EFO	Primary immunodeficiency	Severe combined immunodeficiency due to adenosine deaminase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	6150253	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to adenosine deaminase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	3188944	\N	\N	EFO	5	EFO	disease	Severe combined immunodeficiency due to adenosine deaminase deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	4395939	\N	\N	EFO	6	EFO	Rare genetic immune disease	Severe combined immunodeficiency due to adenosine deaminase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	6410065	\N	\N	EFO	9	EFO	disposition	Severe combined immunodeficiency due to adenosine deaminase deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	5413790	\N	\N	EFO	7	EFO	genetic disorder	Severe combined immunodeficiency due to adenosine deaminase deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	5413791	\N	\N	EFO	7	EFO	immune system disease	Severe combined immunodeficiency due to adenosine deaminase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	6807907	\N	\N	EFO	10	EFO	material property	Severe combined immunodeficiency due to adenosine deaminase deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	6150254	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to adenosine deaminase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:277	"Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." []	7048660	\N	\N	EFO	11	EFO	experimental factor	Severe combined immunodeficiency due to adenosine deaminase deficiency
Orphanet:2770	\N	\N	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	75638	\N	\N	EFO	0	EFO	Nasu-Hakola disease	Nasu-Hakola disease
Orphanet:68356	Orphanet:2770	\N	"" []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	218272	\N	\N	EFO	1	EFO	Leukodystrophy	Nasu-Hakola disease
Orphanet:93449	Orphanet:2770	\N	"" []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	218273	\N	\N	EFO	1	EFO	Primary osteolysis	Nasu-Hakola disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	573302	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Nasu-Hakola disease
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	573303	\N	\N	EFO	2	EFO	Primary bone dysplasia	Nasu-Hakola disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	1155829	\N	\N	EFO	3	EFO	genetic disorder	Nasu-Hakola disease
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	1155830	\N	\N	EFO	3	EFO	Rare genetic bone disease	Nasu-Hakola disease
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	1155831	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Nasu-Hakola disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	4395943	\N	\N	EFO	6	EFO	disease	Nasu-Hakola disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	2038689	\N	\N	EFO	4	EFO	genetic disorder	Nasu-Hakola disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	2038690	\N	\N	EFO	4	EFO	bone disease	Nasu-Hakola disease
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	2038691	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Nasu-Hakola disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	5059884	\N	\N	EFO	7	EFO	disposition	Nasu-Hakola disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	3188947	\N	\N	EFO	5	EFO	skeletal system disease	Nasu-Hakola disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	3188948	\N	\N	EFO	5	EFO	genetic disorder	Nasu-Hakola disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	5877180	\N	\N	EFO	8	EFO	material property	Nasu-Hakola disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	4395942	\N	\N	EFO	6	EFO	disease	Nasu-Hakola disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2770	"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." []	6470411	\N	\N	EFO	9	EFO	experimental factor	Nasu-Hakola disease
Orphanet:2771	\N	\N	"" []	Orphanet:2771	"" []	75639	\N	\N	EFO	0	EFO	Bruck syndrome	Bruck syndrome
Orphanet:167762	Orphanet:2771	\N	"" []	Orphanet:2771	"" []	218274	\N	\N	EFO	1	EFO	Rare disease with dentinogenesis imperfecta	Bruck syndrome
Orphanet:93446	Orphanet:2771	\N	"" []	Orphanet:2771	"" []	218275	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Bruck syndrome
Orphanet:77830	Orphanet:167762	\N	"" []	Orphanet:2771	"" []	573304	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Bruck syndrome
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:2771	"" []	573305	\N	\N	EFO	2	EFO	Primary bone dysplasia	Bruck syndrome
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2771	"" []	1155832	\N	\N	EFO	3	EFO	genetic disorder	Bruck syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2771	"" []	1155833	\N	\N	EFO	3	EFO	Rare genetic bone disease	Bruck syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2771	"" []	1155834	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Bruck syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2771	"" []	4395946	\N	\N	EFO	6	EFO	disease	Bruck syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2771	"" []	2038693	\N	\N	EFO	4	EFO	genetic disorder	Bruck syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2771	"" []	2038694	\N	\N	EFO	4	EFO	bone disease	Bruck syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2771	"" []	2038695	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Bruck syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2771	"" []	5059885	\N	\N	EFO	7	EFO	disposition	Bruck syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2771	"" []	3188951	\N	\N	EFO	5	EFO	skeletal system disease	Bruck syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2771	"" []	3188952	\N	\N	EFO	5	EFO	genetic disorder	Bruck syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2771	"" []	5877181	\N	\N	EFO	8	EFO	material property	Bruck syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2771	"" []	4395945	\N	\N	EFO	6	EFO	disease	Bruck syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2771	"" []	6470412	\N	\N	EFO	9	EFO	experimental factor	Bruck syndrome
Orphanet:2772	\N	\N	"" []	Orphanet:2772	"" []	75640	\N	\N	EFO	0	EFO	Congenital osteogenesis imperfecta - microcephaly - cataracts	Congenital osteogenesis imperfecta - microcephaly - cataracts
Orphanet:93446	Orphanet:2772	\N	"" []	Orphanet:2772	"" []	218276	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Congenital osteogenesis imperfecta - microcephaly - cataracts
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:2772	"" []	573306	\N	\N	EFO	2	EFO	Primary bone dysplasia	Congenital osteogenesis imperfecta - microcephaly - cataracts
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2772	"" []	1155835	\N	\N	EFO	3	EFO	Rare genetic bone disease	Congenital osteogenesis imperfecta - microcephaly - cataracts
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2772	"" []	1155836	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Congenital osteogenesis imperfecta - microcephaly - cataracts
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2772	"" []	2038696	\N	\N	EFO	4	EFO	genetic disorder	Congenital osteogenesis imperfecta - microcephaly - cataracts
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2772	"" []	2038697	\N	\N	EFO	4	EFO	bone disease	Congenital osteogenesis imperfecta - microcephaly - cataracts
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2772	"" []	2038698	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital osteogenesis imperfecta - microcephaly - cataracts
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2772	"" []	4395949	\N	\N	EFO	6	EFO	disease	Congenital osteogenesis imperfecta - microcephaly - cataracts
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2772	"" []	3188954	\N	\N	EFO	5	EFO	skeletal system disease	Congenital osteogenesis imperfecta - microcephaly - cataracts
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2772	"" []	3188955	\N	\N	EFO	5	EFO	genetic disorder	Congenital osteogenesis imperfecta - microcephaly - cataracts
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2772	"" []	5182352	\N	\N	EFO	7	EFO	disposition	Congenital osteogenesis imperfecta - microcephaly - cataracts
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2772	"" []	4395948	\N	\N	EFO	6	EFO	disease	Congenital osteogenesis imperfecta - microcephaly - cataracts
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2772	"" []	5997702	\N	\N	EFO	8	EFO	material property	Congenital osteogenesis imperfecta - microcephaly - cataracts
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2772	"" []	6551032	\N	\N	EFO	9	EFO	experimental factor	Congenital osteogenesis imperfecta - microcephaly - cataracts
Orphanet:2773	\N	\N	"" []	Orphanet:2773	"" []	75641	\N	\N	EFO	0	EFO	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
Orphanet:93446	Orphanet:2773	\N	"" []	Orphanet:2773	"" []	218277	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:2773	"" []	573307	\N	\N	EFO	2	EFO	Primary bone dysplasia	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2773	"" []	1155837	\N	\N	EFO	3	EFO	Rare genetic bone disease	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2773	"" []	1155838	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2773	"" []	2038699	\N	\N	EFO	4	EFO	genetic disorder	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2773	"" []	2038700	\N	\N	EFO	4	EFO	bone disease	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2773	"" []	2038701	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2773	"" []	4395952	\N	\N	EFO	6	EFO	disease	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2773	"" []	3188957	\N	\N	EFO	5	EFO	skeletal system disease	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2773	"" []	3188958	\N	\N	EFO	5	EFO	genetic disorder	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2773	"" []	5182353	\N	\N	EFO	7	EFO	disposition	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2773	"" []	4395951	\N	\N	EFO	6	EFO	disease	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2773	"" []	5997703	\N	\N	EFO	8	EFO	material property	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2773	"" []	6551033	\N	\N	EFO	9	EFO	experimental factor	Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
Orphanet:2774	\N	\N	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	75642	\N	\N	EFO	0	EFO	Multicentric carpo-tarsal osteolysis with or without nephropathy	Multicentric carpo-tarsal osteolysis with or without nephropathy
Orphanet:93449	Orphanet:2774	\N	"" []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	218278	\N	\N	EFO	1	EFO	Primary osteolysis	Multicentric carpo-tarsal osteolysis with or without nephropathy
Orphanet:93547	Orphanet:2774	\N	"" []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	218279	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Multicentric carpo-tarsal osteolysis with or without nephropathy
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	573308	\N	\N	EFO	2	EFO	Primary bone dysplasia	Multicentric carpo-tarsal osteolysis with or without nephropathy
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	573309	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Multicentric carpo-tarsal osteolysis with or without nephropathy
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	1155839	\N	\N	EFO	3	EFO	Rare genetic bone disease	Multicentric carpo-tarsal osteolysis with or without nephropathy
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	1155840	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Multicentric carpo-tarsal osteolysis with or without nephropathy
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	1155841	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Multicentric carpo-tarsal osteolysis with or without nephropathy
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	1155842	\N	\N	EFO	3	EFO	Rare genetic renal disease	Multicentric carpo-tarsal osteolysis with or without nephropathy
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	2038702	\N	\N	EFO	4	EFO	genetic disorder	Multicentric carpo-tarsal osteolysis with or without nephropathy
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	2038703	\N	\N	EFO	4	EFO	bone disease	Multicentric carpo-tarsal osteolysis with or without nephropathy
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	2038704	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Multicentric carpo-tarsal osteolysis with or without nephropathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	3188961	\N	\N	EFO	5	EFO	genetic disorder	Multicentric carpo-tarsal osteolysis with or without nephropathy
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	2038706	\N	\N	EFO	4	EFO	genetic disorder	Multicentric carpo-tarsal osteolysis with or without nephropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	4133754	\N	\N	EFO	6	EFO	disease	Multicentric carpo-tarsal osteolysis with or without nephropathy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	3188960	\N	\N	EFO	5	EFO	skeletal system disease	Multicentric carpo-tarsal osteolysis with or without nephropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	5182354	\N	\N	EFO	7	EFO	disposition	Multicentric carpo-tarsal osteolysis with or without nephropathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	4395954	\N	\N	EFO	6	EFO	disease	Multicentric carpo-tarsal osteolysis with or without nephropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	5997704	\N	\N	EFO	8	EFO	material property	Multicentric carpo-tarsal osteolysis with or without nephropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2774	"Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." []	6551034	\N	\N	EFO	9	EFO	experimental factor	Multicentric carpo-tarsal osteolysis with or without nephropathy
Orphanet:2776	\N	\N	"" []	Orphanet:2776	"" []	75643	\N	\N	EFO	0	EFO	Autosomal recessive distal osteolysis syndrome	Autosomal recessive distal osteolysis syndrome
Orphanet:93449	Orphanet:2776	\N	"" []	Orphanet:2776	"" []	218280	\N	\N	EFO	1	EFO	Primary osteolysis	Autosomal recessive distal osteolysis syndrome
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:2776	"" []	573310	\N	\N	EFO	2	EFO	Primary bone dysplasia	Autosomal recessive distal osteolysis syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2776	"" []	1155843	\N	\N	EFO	3	EFO	Rare genetic bone disease	Autosomal recessive distal osteolysis syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2776	"" []	1155844	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Autosomal recessive distal osteolysis syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2776	"" []	2038707	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive distal osteolysis syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2776	"" []	2038708	\N	\N	EFO	4	EFO	bone disease	Autosomal recessive distal osteolysis syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2776	"" []	2038709	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive distal osteolysis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2776	"" []	4395957	\N	\N	EFO	6	EFO	disease	Autosomal recessive distal osteolysis syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2776	"" []	3188963	\N	\N	EFO	5	EFO	skeletal system disease	Autosomal recessive distal osteolysis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2776	"" []	3188964	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive distal osteolysis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2776	"" []	5182355	\N	\N	EFO	7	EFO	disposition	Autosomal recessive distal osteolysis syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2776	"" []	4395956	\N	\N	EFO	6	EFO	disease	Autosomal recessive distal osteolysis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2776	"" []	5997705	\N	\N	EFO	8	EFO	material property	Autosomal recessive distal osteolysis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2776	"" []	6551035	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive distal osteolysis syndrome
Orphanet:2777	\N	\N	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	75644	\N	\N	EFO	0	EFO	Osteomesopyknosis	Osteomesopyknosis
Orphanet:2781	Orphanet:2777	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	218281	\N	\N	EFO	1	EFO	Osteopetrosis	Osteomesopyknosis
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	573311	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Osteomesopyknosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	1155845	\N	\N	EFO	3	EFO	Primary bone dysplasia	Osteomesopyknosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	2038710	\N	\N	EFO	4	EFO	Rare genetic bone disease	Osteomesopyknosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	2038711	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Osteomesopyknosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	3188965	\N	\N	EFO	5	EFO	genetic disorder	Osteomesopyknosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	3188966	\N	\N	EFO	5	EFO	bone disease	Osteomesopyknosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	3188967	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Osteomesopyknosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	5413801	\N	\N	EFO	7	EFO	disease	Osteomesopyknosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	4395959	\N	\N	EFO	6	EFO	skeletal system disease	Osteomesopyknosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	4395960	\N	\N	EFO	6	EFO	genetic disorder	Osteomesopyknosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	5997706	\N	\N	EFO	8	EFO	disposition	Osteomesopyknosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	5413800	\N	\N	EFO	7	EFO	disease	Osteomesopyknosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	6551036	\N	\N	EFO	9	EFO	material property	Osteomesopyknosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2777	"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." []	6889212	\N	\N	EFO	10	EFO	experimental factor	Osteomesopyknosis
Orphanet:2779	\N	\N	"" []	Orphanet:2779	"" []	75645	\N	\N	EFO	0	EFO	Osteopathia striata - pigmentary dermopathy - white forelock	Osteopathia striata - pigmentary dermopathy - white forelock
Orphanet:183466	Orphanet:2779	\N	"" []	Orphanet:2779	"" []	218282	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Osteopathia striata - pigmentary dermopathy - white forelock
Orphanet:93444	Orphanet:2779	\N	"" []	Orphanet:2779	"" []	218283	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Osteopathia striata - pigmentary dermopathy - white forelock
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:2779	"" []	573312	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Osteopathia striata - pigmentary dermopathy - white forelock
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2779	"" []	573313	\N	\N	EFO	2	EFO	Primary bone dysplasia	Osteopathia striata - pigmentary dermopathy - white forelock
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:2779	"" []	1155846	\N	\N	EFO	3	EFO	Rare genetic skin disease	Osteopathia striata - pigmentary dermopathy - white forelock
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2779	"" []	1155847	\N	\N	EFO	3	EFO	Rare genetic bone disease	Osteopathia striata - pigmentary dermopathy - white forelock
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2779	"" []	1155848	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Osteopathia striata - pigmentary dermopathy - white forelock
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2779	"" []	2038712	\N	\N	EFO	4	EFO	genetic disorder	Osteopathia striata - pigmentary dermopathy - white forelock
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2779	"" []	2038713	\N	\N	EFO	4	EFO	skin disease	Osteopathia striata - pigmentary dermopathy - white forelock
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2779	"" []	2038714	\N	\N	EFO	4	EFO	genetic disorder	Osteopathia striata - pigmentary dermopathy - white forelock
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2779	"" []	2038715	\N	\N	EFO	4	EFO	bone disease	Osteopathia striata - pigmentary dermopathy - white forelock
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2779	"" []	2038716	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Osteopathia striata - pigmentary dermopathy - white forelock
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2779	"" []	4395963	\N	\N	EFO	6	EFO	disease	Osteopathia striata - pigmentary dermopathy - white forelock
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2779	"" []	3188969	\N	\N	EFO	5	EFO	disease	Osteopathia striata - pigmentary dermopathy - white forelock
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2779	"" []	3188970	\N	\N	EFO	5	EFO	skeletal system disease	Osteopathia striata - pigmentary dermopathy - white forelock
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2779	"" []	3188971	\N	\N	EFO	5	EFO	genetic disorder	Osteopathia striata - pigmentary dermopathy - white forelock
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2779	"" []	5182356	\N	\N	EFO	7	EFO	disposition	Osteopathia striata - pigmentary dermopathy - white forelock
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2779	"" []	4395962	\N	\N	EFO	6	EFO	disease	Osteopathia striata - pigmentary dermopathy - white forelock
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2779	"" []	5997707	\N	\N	EFO	8	EFO	material property	Osteopathia striata - pigmentary dermopathy - white forelock
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2779	"" []	6551037	\N	\N	EFO	9	EFO	experimental factor	Osteopathia striata - pigmentary dermopathy - white forelock
Orphanet:278	\N	\N	"" []	Orphanet:278	"" []	75646	\N	\N	EFO	0	EFO	Corticobasal degeneration	Corticobasal degeneration
Orphanet:306708	Orphanet:278	\N	"" []	Orphanet:278	"" []	218284	\N	\N	EFO	1	EFO	Frontotemporal neurodegeneration with movement disorder	Corticobasal degeneration
Orphanet:307058	Orphanet:306708	\N	"" []	Orphanet:278	"" []	573314	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Corticobasal degeneration
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:278	"" []	1155849	\N	\N	EFO	3	EFO	neurodegenerative disease	Corticobasal degeneration
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:278	"" []	1155850	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Corticobasal degeneration
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:278	"" []	2038717	\N	\N	EFO	4	EFO	nervous system disease	Corticobasal degeneration
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:278	"" []	2038718	\N	\N	EFO	4	EFO	movement disorder	Corticobasal degeneration
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:278	"" []	2038719	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Corticobasal degeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:278	"" []	4395965	\N	\N	EFO	6	EFO	disease	Corticobasal degeneration
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:278	"" []	3188973	\N	\N	EFO	5	EFO	nervous system disease	Corticobasal degeneration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:278	"" []	3188974	\N	\N	EFO	5	EFO	genetic disorder	Corticobasal degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:278	"" []	5182357	\N	\N	EFO	7	EFO	disposition	Corticobasal degeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:278	"" []	4395966	\N	\N	EFO	6	EFO	disease	Corticobasal degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:278	"" []	5997708	\N	\N	EFO	8	EFO	material property	Corticobasal degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:278	"" []	6551038	\N	\N	EFO	9	EFO	experimental factor	Corticobasal degeneration
Orphanet:2780	\N	\N	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	75647	\N	\N	EFO	0	EFO	Osteopathia striata - cranial sclerosis	Osteopathia striata - cranial sclerosis
Orphanet:2781	Orphanet:2780	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	218285	\N	\N	EFO	1	EFO	Osteopetrosis	Osteopathia striata - cranial sclerosis
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	573315	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Osteopathia striata - cranial sclerosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	1155851	\N	\N	EFO	3	EFO	Primary bone dysplasia	Osteopathia striata - cranial sclerosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	2038720	\N	\N	EFO	4	EFO	Rare genetic bone disease	Osteopathia striata - cranial sclerosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	2038721	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Osteopathia striata - cranial sclerosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	3188975	\N	\N	EFO	5	EFO	genetic disorder	Osteopathia striata - cranial sclerosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	3188976	\N	\N	EFO	5	EFO	bone disease	Osteopathia striata - cranial sclerosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	3188977	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Osteopathia striata - cranial sclerosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	5413806	\N	\N	EFO	7	EFO	disease	Osteopathia striata - cranial sclerosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	4395968	\N	\N	EFO	6	EFO	skeletal system disease	Osteopathia striata - cranial sclerosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	4395969	\N	\N	EFO	6	EFO	genetic disorder	Osteopathia striata - cranial sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	5997709	\N	\N	EFO	8	EFO	disposition	Osteopathia striata - cranial sclerosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	5413805	\N	\N	EFO	7	EFO	disease	Osteopathia striata - cranial sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	6551039	\N	\N	EFO	9	EFO	material property	Osteopathia striata - cranial sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2780	"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." []	6889213	\N	\N	EFO	10	EFO	experimental factor	Osteopathia striata - cranial sclerosis
Orphanet:2781	\N	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	75648	\N	\N	EFO	0	EFO	Osteopetrosis	Osteopetrosis
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	218286	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Osteopetrosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	573316	\N	\N	EFO	2	EFO	Primary bone dysplasia	Osteopetrosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	1155852	\N	\N	EFO	3	EFO	Rare genetic bone disease	Osteopetrosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	1155853	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Osteopetrosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	2038722	\N	\N	EFO	4	EFO	genetic disorder	Osteopetrosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	2038723	\N	\N	EFO	4	EFO	bone disease	Osteopetrosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	2038724	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Osteopetrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	4395972	\N	\N	EFO	6	EFO	disease	Osteopetrosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	3188979	\N	\N	EFO	5	EFO	skeletal system disease	Osteopetrosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	3188980	\N	\N	EFO	5	EFO	genetic disorder	Osteopetrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	5182358	\N	\N	EFO	7	EFO	disposition	Osteopetrosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	4395971	\N	\N	EFO	6	EFO	disease	Osteopetrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	5997710	\N	\N	EFO	8	EFO	material property	Osteopetrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2781	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	6551040	\N	\N	EFO	9	EFO	experimental factor	Osteopetrosis
Orphanet:2783	\N	\N	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	75649	\N	\N	EFO	0	EFO	Autosomal dominant osteopetrosis type 1	Autosomal dominant osteopetrosis type 1
Orphanet:2781	Orphanet:2783	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	218287	\N	\N	EFO	1	EFO	Osteopetrosis	Autosomal dominant osteopetrosis type 1
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	573317	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Autosomal dominant osteopetrosis type 1
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	1155854	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal dominant osteopetrosis type 1
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	2038725	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal dominant osteopetrosis type 1
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	2038726	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal dominant osteopetrosis type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	3188981	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant osteopetrosis type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	3188982	\N	\N	EFO	5	EFO	bone disease	Autosomal dominant osteopetrosis type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	3188983	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant osteopetrosis type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	5413810	\N	\N	EFO	7	EFO	disease	Autosomal dominant osteopetrosis type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	4395974	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal dominant osteopetrosis type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	4395975	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant osteopetrosis type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	5997711	\N	\N	EFO	8	EFO	disposition	Autosomal dominant osteopetrosis type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	5413809	\N	\N	EFO	7	EFO	disease	Autosomal dominant osteopetrosis type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	6551041	\N	\N	EFO	9	EFO	material property	Autosomal dominant osteopetrosis type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2783	"Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." []	6889214	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant osteopetrosis type 1
Orphanet:2785	\N	\N	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	75650	\N	\N	EFO	0	EFO	Osteopetrosis with renal tubular acidosis	Osteopetrosis with renal tubular acidosis
Orphanet:2781	Orphanet:2785	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	218288	\N	\N	EFO	1	EFO	Osteopetrosis	Osteopetrosis with renal tubular acidosis
Orphanet:314822	Orphanet:2785	\N	"" []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	218289	\N	\N	EFO	1	EFO	Primary renal tubular acidosis	Osteopetrosis with renal tubular acidosis
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	573318	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Osteopetrosis with renal tubular acidosis
Orphanet:183592	Orphanet:314822	\N	"" []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	573319	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Osteopetrosis with renal tubular acidosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	1155855	\N	\N	EFO	3	EFO	Primary bone dysplasia	Osteopetrosis with renal tubular acidosis
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	1155856	\N	\N	EFO	3	EFO	Rare genetic renal disease	Osteopetrosis with renal tubular acidosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	2038727	\N	\N	EFO	4	EFO	Rare genetic bone disease	Osteopetrosis with renal tubular acidosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	2038728	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Osteopetrosis with renal tubular acidosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	2038729	\N	\N	EFO	4	EFO	genetic disorder	Osteopetrosis with renal tubular acidosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	3188984	\N	\N	EFO	5	EFO	genetic disorder	Osteopetrosis with renal tubular acidosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	3188985	\N	\N	EFO	5	EFO	bone disease	Osteopetrosis with renal tubular acidosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	3188986	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Osteopetrosis with renal tubular acidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	5413812	\N	\N	EFO	7	EFO	disease	Osteopetrosis with renal tubular acidosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	4395977	\N	\N	EFO	6	EFO	skeletal system disease	Osteopetrosis with renal tubular acidosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	4395978	\N	\N	EFO	6	EFO	genetic disorder	Osteopetrosis with renal tubular acidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	5877182	\N	\N	EFO	8	EFO	disposition	Osteopetrosis with renal tubular acidosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	5413811	\N	\N	EFO	7	EFO	disease	Osteopetrosis with renal tubular acidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	6470413	\N	\N	EFO	9	EFO	material property	Osteopetrosis with renal tubular acidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2785	"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." []	6848512	\N	\N	EFO	10	EFO	experimental factor	Osteopetrosis with renal tubular acidosis
Orphanet:2786	\N	\N	"" []	Orphanet:2786	"" []	75651	\N	\N	EFO	0	EFO	Osteoporosis - oculocutaneous hypopigmentation syndrome	Osteoporosis - oculocutaneous hypopigmentation syndrome
Orphanet:93446	Orphanet:2786	\N	"" []	Orphanet:2786	"" []	218290	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Osteoporosis - oculocutaneous hypopigmentation syndrome
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:2786	"" []	573320	\N	\N	EFO	2	EFO	Primary bone dysplasia	Osteoporosis - oculocutaneous hypopigmentation syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2786	"" []	1155857	\N	\N	EFO	3	EFO	Rare genetic bone disease	Osteoporosis - oculocutaneous hypopigmentation syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2786	"" []	1155858	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Osteoporosis - oculocutaneous hypopigmentation syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2786	"" []	2038730	\N	\N	EFO	4	EFO	genetic disorder	Osteoporosis - oculocutaneous hypopigmentation syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2786	"" []	2038731	\N	\N	EFO	4	EFO	bone disease	Osteoporosis - oculocutaneous hypopigmentation syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2786	"" []	2038732	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Osteoporosis - oculocutaneous hypopigmentation syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2786	"" []	4395982	\N	\N	EFO	6	EFO	disease	Osteoporosis - oculocutaneous hypopigmentation syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2786	"" []	3188989	\N	\N	EFO	5	EFO	skeletal system disease	Osteoporosis - oculocutaneous hypopigmentation syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2786	"" []	3188990	\N	\N	EFO	5	EFO	genetic disorder	Osteoporosis - oculocutaneous hypopigmentation syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2786	"" []	5182360	\N	\N	EFO	7	EFO	disposition	Osteoporosis - oculocutaneous hypopigmentation syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2786	"" []	4395981	\N	\N	EFO	6	EFO	disease	Osteoporosis - oculocutaneous hypopigmentation syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2786	"" []	5997713	\N	\N	EFO	8	EFO	material property	Osteoporosis - oculocutaneous hypopigmentation syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2786	"" []	6551043	\N	\N	EFO	9	EFO	experimental factor	Osteoporosis - oculocutaneous hypopigmentation syndrome
Orphanet:2787	\N	\N	"" []	Orphanet:2787	"" []	75652	\N	\N	EFO	0	EFO	Osteoporosis - macrocephaly - blindness - joint hyperlaxity	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
Orphanet:93446	Orphanet:2787	\N	"" []	Orphanet:2787	"" []	218291	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:2787	"" []	573321	\N	\N	EFO	2	EFO	Primary bone dysplasia	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2787	"" []	1155859	\N	\N	EFO	3	EFO	Rare genetic bone disease	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2787	"" []	1155860	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2787	"" []	2038733	\N	\N	EFO	4	EFO	genetic disorder	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2787	"" []	2038734	\N	\N	EFO	4	EFO	bone disease	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2787	"" []	2038735	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2787	"" []	4395985	\N	\N	EFO	6	EFO	disease	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2787	"" []	3188992	\N	\N	EFO	5	EFO	skeletal system disease	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2787	"" []	3188993	\N	\N	EFO	5	EFO	genetic disorder	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2787	"" []	5182361	\N	\N	EFO	7	EFO	disposition	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2787	"" []	4395984	\N	\N	EFO	6	EFO	disease	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2787	"" []	5997714	\N	\N	EFO	8	EFO	material property	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2787	"" []	6551044	\N	\N	EFO	9	EFO	experimental factor	Osteoporosis - macrocephaly - blindness - joint hyperlaxity
Orphanet:2788	\N	\N	"" []	Orphanet:2788	"" []	75653	\N	\N	EFO	0	EFO	Osteoporosis - pseudoglioma	Osteoporosis - pseudoglioma
Orphanet:183763	Orphanet:2788	\N	"" []	Orphanet:2788	"" []	218292	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Osteoporosis - pseudoglioma
Orphanet:93446	Orphanet:2788	\N	"" []	Orphanet:2788	"" []	218293	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Osteoporosis - pseudoglioma
Orphanet:98669	Orphanet:2788	\N	"" []	Orphanet:2788	"" []	218294	\N	\N	EFO	1	EFO	Congenital vitreoretinal dysplasia	Osteoporosis - pseudoglioma
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2788	"" []	573322	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Osteoporosis - pseudoglioma
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:2788	"" []	573323	\N	\N	EFO	2	EFO	Primary bone dysplasia	Osteoporosis - pseudoglioma
Orphanet:98668	Orphanet:98669	\N	"" []	Orphanet:2788	"" []	573324	\N	\N	EFO	2	EFO	Vitreoretinopathy	Osteoporosis - pseudoglioma
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2788	"" []	1155861	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Osteoporosis - pseudoglioma
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2788	"" []	1155862	\N	\N	EFO	3	EFO	Rare genetic bone disease	Osteoporosis - pseudoglioma
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2788	"" []	1155863	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Osteoporosis - pseudoglioma
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:2788	"" []	1155864	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Osteoporosis - pseudoglioma
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2788	"" []	2038736	\N	\N	EFO	4	EFO	genetic disorder	Osteoporosis - pseudoglioma
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2788	"" []	2038737	\N	\N	EFO	4	EFO	genetic disorder	Osteoporosis - pseudoglioma
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2788	"" []	2038738	\N	\N	EFO	4	EFO	bone disease	Osteoporosis - pseudoglioma
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2788	"" []	2038739	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Osteoporosis - pseudoglioma
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:2788	"" []	2038740	\N	\N	EFO	4	EFO	Rare genetic eye disease	Osteoporosis - pseudoglioma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2788	"" []	4395988	\N	\N	EFO	6	EFO	disease	Osteoporosis - pseudoglioma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2788	"" []	3188995	\N	\N	EFO	5	EFO	skeletal system disease	Osteoporosis - pseudoglioma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2788	"" []	3188996	\N	\N	EFO	5	EFO	genetic disorder	Osteoporosis - pseudoglioma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2788	"" []	3188997	\N	\N	EFO	5	EFO	genetic disorder	Osteoporosis - pseudoglioma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2788	"" []	3188998	\N	\N	EFO	5	EFO	eye disease	Osteoporosis - pseudoglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2788	"" []	5182362	\N	\N	EFO	7	EFO	disposition	Osteoporosis - pseudoglioma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2788	"" []	4395987	\N	\N	EFO	6	EFO	disease	Osteoporosis - pseudoglioma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2788	"" []	4395989	\N	\N	EFO	6	EFO	disease	Osteoporosis - pseudoglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2788	"" []	5997715	\N	\N	EFO	8	EFO	material property	Osteoporosis - pseudoglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2788	"" []	6551045	\N	\N	EFO	9	EFO	experimental factor	Osteoporosis - pseudoglioma
Orphanet:2789	\N	\N	"" []	Orphanet:2789	"" []	75654	\N	\N	EFO	0	EFO	Lateral meningocele syndrome	Lateral meningocele syndrome
Orphanet:268843	Orphanet:2789	\N	"" []	Orphanet:2789	"" []	218295	\N	\N	EFO	1	EFO	Malformation of the neurenteric canal, spinal cord and column	Lateral meningocele syndrome
Orphanet:93444	Orphanet:2789	\N	"" []	Orphanet:2789	"" []	218296	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Lateral meningocele syndrome
Orphanet:3388	Orphanet:268843	\N	"" []	Orphanet:2789	"" []	573325	\N	\N	EFO	2	EFO	Neural tube defect	Lateral meningocele syndrome
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2789	"" []	573326	\N	\N	EFO	2	EFO	Primary bone dysplasia	Lateral meningocele syndrome
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:2789	"" []	1155865	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Lateral meningocele syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2789	"" []	1155866	\N	\N	EFO	3	EFO	Rare genetic bone disease	Lateral meningocele syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2789	"" []	1155867	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Lateral meningocele syndrome
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2789	"" []	2038741	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lateral meningocele syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2789	"" []	2038742	\N	\N	EFO	4	EFO	genetic disorder	Lateral meningocele syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2789	"" []	2038743	\N	\N	EFO	4	EFO	bone disease	Lateral meningocele syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2789	"" []	2038744	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lateral meningocele syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2789	"" []	3188999	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lateral meningocele syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2789	"" []	3189000	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lateral meningocele syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2789	"" []	5182364	\N	\N	EFO	7	EFO	disease	Lateral meningocele syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2789	"" []	3189002	\N	\N	EFO	5	EFO	skeletal system disease	Lateral meningocele syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2789	"" []	4395990	\N	\N	EFO	6	EFO	genetic disorder	Lateral meningocele syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2789	"" []	4395991	\N	\N	EFO	6	EFO	genetic disorder	Lateral meningocele syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2789	"" []	5877183	\N	\N	EFO	8	EFO	disposition	Lateral meningocele syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2789	"" []	4395993	\N	\N	EFO	6	EFO	disease	Lateral meningocele syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2789	"" []	6470414	\N	\N	EFO	9	EFO	material property	Lateral meningocele syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2789	"" []	6848513	\N	\N	EFO	10	EFO	experimental factor	Lateral meningocele syndrome
Orphanet:2790	\N	\N	"" []	Orphanet:2790	"" []	75655	\N	\N	EFO	0	EFO	Autosomal dominant osteosclerosis, Worth type	Autosomal dominant osteosclerosis, Worth type
Orphanet:93444	Orphanet:2790	\N	"" []	Orphanet:2790	"" []	218297	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Autosomal dominant osteosclerosis, Worth type
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2790	"" []	573327	\N	\N	EFO	2	EFO	Primary bone dysplasia	Autosomal dominant osteosclerosis, Worth type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2790	"" []	1155868	\N	\N	EFO	3	EFO	Rare genetic bone disease	Autosomal dominant osteosclerosis, Worth type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2790	"" []	1155869	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Autosomal dominant osteosclerosis, Worth type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2790	"" []	2038745	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant osteosclerosis, Worth type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2790	"" []	2038746	\N	\N	EFO	4	EFO	bone disease	Autosomal dominant osteosclerosis, Worth type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2790	"" []	2038747	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant osteosclerosis, Worth type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2790	"" []	4395997	\N	\N	EFO	6	EFO	disease	Autosomal dominant osteosclerosis, Worth type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2790	"" []	3189005	\N	\N	EFO	5	EFO	skeletal system disease	Autosomal dominant osteosclerosis, Worth type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2790	"" []	3189006	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant osteosclerosis, Worth type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2790	"" []	5182365	\N	\N	EFO	7	EFO	disposition	Autosomal dominant osteosclerosis, Worth type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2790	"" []	4395996	\N	\N	EFO	6	EFO	disease	Autosomal dominant osteosclerosis, Worth type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2790	"" []	5997717	\N	\N	EFO	8	EFO	material property	Autosomal dominant osteosclerosis, Worth type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2790	"" []	6551047	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant osteosclerosis, Worth type
Orphanet:2791	\N	\N	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	75656	\N	\N	EFO	0	EFO	Otodental syndrome	Otodental syndrome
Orphanet:183580	Orphanet:2791	\N	"" []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	218298	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Otodental syndrome
Orphanet:262092	Orphanet:2791	\N	"" []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	218299	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 11	Otodental syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	573328	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Otodental syndrome
Orphanet:261816	Orphanet:262092	\N	"" []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	573329	\N	\N	EFO	2	EFO	Partial deletion of chromosome 11	Otodental syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	1155870	\N	\N	EFO	3	EFO	genetic disorder	Otodental syndrome
Orphanet:98142	Orphanet:261816	\N	"" []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	1155871	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Otodental syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	6150272	\N	\N	EFO	8	EFO	disease	Otodental syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	2038749	\N	\N	EFO	4	EFO	Autosomal monosomy	Otodental syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	6378913	\N	\N	EFO	9	EFO	disposition	Otodental syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	3189008	\N	\N	EFO	5	EFO	Autosomal anomaly	Otodental syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	6778716	\N	\N	EFO	10	EFO	material property	Otodental syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	4395999	\N	\N	EFO	6	EFO	Chromosomal anomaly	Otodental syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	7029909	\N	\N	EFO	11	EFO	experimental factor	Otodental syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2791	"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." []	5413820	\N	\N	EFO	7	EFO	genetic disorder	Otodental syndrome
Orphanet:2792	\N	\N	"" []	Orphanet:2792	"" []	75657	\N	\N	EFO	0	EFO	Otofaciocervical syndrome	Otofaciocervical syndrome
Orphanet:183576	Orphanet:2792	\N	"" []	Orphanet:2792	"" []	218300	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Otofaciocervical syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2792	"" []	573330	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Otofaciocervical syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2792	"" []	1155872	\N	\N	EFO	3	EFO	genetic disorder	Otofaciocervical syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2792	"" []	2038750	\N	\N	EFO	4	EFO	disease	Otofaciocervical syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2792	"" []	3189009	\N	\N	EFO	5	EFO	disposition	Otofaciocervical syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2792	"" []	4396000	\N	\N	EFO	6	EFO	material property	Otofaciocervical syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2792	"" []	5413821	\N	\N	EFO	7	EFO	experimental factor	Otofaciocervical syndrome
Orphanet:2796	\N	\N	" with prominent pachydermia and minimal-to-absent skeletal changes." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	75658	\N	\N	EFO	0	EFO	Pachydermoperiostosis	Pachydermoperiostosis
Orphanet:183472	Orphanet:2796	\N	"" []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	218301	\N	\N	EFO	1	EFO	Genetic dermis disorder	Pachydermoperiostosis
Orphanet:248095	Orphanet:2796	\N	"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	218302	\N	\N	EFO	1	EFO	Primary hypertrophic osteoarthropathy	Pachydermoperiostosis
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	573331	\N	\N	EFO	2	EFO	Rare genetic skin disease	Pachydermoperiostosis
Orphanet:93444	Orphanet:248095	\N	"" []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	573332	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Pachydermoperiostosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	1155873	\N	\N	EFO	3	EFO	genetic disorder	Pachydermoperiostosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	1155874	\N	\N	EFO	3	EFO	skin disease	Pachydermoperiostosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	1155875	\N	\N	EFO	3	EFO	Primary bone dysplasia	Pachydermoperiostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	5413824	\N	\N	EFO	7	EFO	disease	Pachydermoperiostosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	2038752	\N	\N	EFO	4	EFO	disease	Pachydermoperiostosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	2038753	\N	\N	EFO	4	EFO	Rare genetic bone disease	Pachydermoperiostosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	2038754	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Pachydermoperiostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	5817663	\N	\N	EFO	8	EFO	disposition	Pachydermoperiostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	3189011	\N	\N	EFO	5	EFO	genetic disorder	Pachydermoperiostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	3189012	\N	\N	EFO	5	EFO	bone disease	Pachydermoperiostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	3189013	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pachydermoperiostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	6410066	\N	\N	EFO	9	EFO	material property	Pachydermoperiostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	4396003	\N	\N	EFO	6	EFO	skeletal system disease	Pachydermoperiostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	4396004	\N	\N	EFO	6	EFO	genetic disorder	Pachydermoperiostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	6807908	\N	\N	EFO	10	EFO	experimental factor	Pachydermoperiostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2796	" with prominent pachydermia and minimal-to-absent skeletal changes." []	5413823	\N	\N	EFO	7	EFO	disease	Pachydermoperiostosis
Orphanet:2798	\N	\N	"" []	Orphanet:2798	"" []	75659	\N	\N	EFO	0	EFO	Pachygyria - intellectual disability - epilepsy	Pachygyria - intellectual disability - epilepsy
Orphanet:166478	Orphanet:2798	\N	"" []	Orphanet:2798	"" []	218303	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Pachygyria - intellectual disability - epilepsy
Orphanet:183763	Orphanet:2798	\N	"" []	Orphanet:2798	"" []	218304	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Pachygyria - intellectual disability - epilepsy
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:2798	"" []	573333	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Pachygyria - intellectual disability - epilepsy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2798	"" []	573334	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Pachygyria - intellectual disability - epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2798	"" []	1155876	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pachygyria - intellectual disability - epilepsy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2798	"" []	1155877	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pachygyria - intellectual disability - epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2798	"" []	2038755	\N	\N	EFO	4	EFO	genetic disorder	Pachygyria - intellectual disability - epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2798	"" []	3189014	\N	\N	EFO	5	EFO	disease	Pachygyria - intellectual disability - epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2798	"" []	4396005	\N	\N	EFO	6	EFO	disposition	Pachygyria - intellectual disability - epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2798	"" []	5413825	\N	\N	EFO	7	EFO	material property	Pachygyria - intellectual disability - epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2798	"" []	6150273	\N	\N	EFO	8	EFO	experimental factor	Pachygyria - intellectual disability - epilepsy
Orphanet:279934	\N	\N	"" []	Orphanet:279934	"" []	75660	\N	\N	EFO	0	EFO	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:254871	Orphanet:279934	\N	"" []	Orphanet:279934	"" []	218305	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome, hepatocerebral form	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:79191	Orphanet:279934	\N	"" []	Orphanet:279934	"" []	218306	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:35698	Orphanet:254871	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:279934	"" []	573335	\N	\N	EFO	2	EFO	Mitochondrial DNA depletion syndrome	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:279934	"" []	573336	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:279934	"" []	1155878	\N	\N	EFO	3	EFO	Metabolic disease with intestinal involvement	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:279934	"" []	1155879	\N	\N	EFO	3	EFO	Mitochondrial myopathy	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:279934	"" []	1155880	\N	\N	EFO	3	EFO	Mitochondrial DNA maintenance syndrome	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:279934	"" []	1155881	\N	\N	EFO	3	EFO	Mitochondrial disease with eye involvement	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:279934	"" []	1155882	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:279934	"" []	2038756	\N	\N	EFO	4	EFO	Genetic intestinal disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:279934	"" []	2038757	\N	\N	EFO	4	EFO	Muscular lipidosis	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:279934	"" []	2038758	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:279934	"" []	2038759	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:279934	"" []	6633091	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:279934	"" []	6633092	\N	\N	EFO	9	EFO	metabolic disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:279934	"" []	3189015	\N	\N	EFO	5	EFO	digestive system disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:279934	"" []	3189016	\N	\N	EFO	5	EFO	Rare genetic gastroenterological disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:279934	"" []	3189017	\N	\N	EFO	5	EFO	Metabolic myopathy	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:279934	"" []	3189018	\N	\N	EFO	5	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:279934	"" []	3189019	\N	\N	EFO	5	EFO	Rare genetic eye disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:279934	"" []	7099165	\N	\N	EFO	11	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:279934	"" []	6762380	\N	\N	EFO	10	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:279934	"" []	4396006	\N	\N	EFO	6	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:279934	"" []	4396007	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:279934	"" []	4396008	\N	\N	EFO	6	EFO	Non-dystrophic myopathy	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:279934	"" []	4396009	\N	\N	EFO	6	EFO	Mitochondrial disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:279934	"" []	4396010	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:279934	"" []	4396011	\N	\N	EFO	6	EFO	eye disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:279934	"" []	7167537	\N	\N	EFO	12	EFO	disposition	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:279934	"" []	5413828	\N	\N	EFO	7	EFO	Genetic skeletal muscle disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:279934	"" []	5413829	\N	\N	EFO	7	EFO	Developmental anomaly of metabolic origin	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:279934	"" []	5413830	\N	\N	EFO	7	EFO	Disorder of energy metabolism	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:279934	"" []	5413831	\N	\N	EFO	7	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:279934	"" []	7272441	\N	\N	EFO	13	EFO	material property	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:279934	"" []	6150274	\N	\N	EFO	8	EFO	Genetic neuromuscular disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:279934	"" []	6150275	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:279934	"" []	6150276	\N	\N	EFO	8	EFO	Inborn errors of metabolism	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:279934	"" []	7348681	\N	\N	EFO	14	EFO	experimental factor	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:279934	"" []	6633088	\N	\N	EFO	9	EFO	muscular disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:279934	"" []	6633089	\N	\N	EFO	9	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:279934	"" []	6633090	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:279934	"" []	6925831	\N	\N	EFO	10	EFO	skeletal system disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:279934	"" []	6925832	\N	\N	EFO	10	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:279934	"" []	7099164	\N	\N	EFO	11	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Orphanet:279943	\N	\N	"" []	Orphanet:279943	"" []	75661	\N	\N	EFO	0	EFO	Hereditary neutrophilia	Hereditary neutrophilia
Orphanet:183770	Orphanet:279943	\N	"" []	Orphanet:279943	"" []	218307	\N	\N	EFO	1	EFO	Rare genetic immune disease	Hereditary neutrophilia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:279943	"" []	573337	\N	\N	EFO	2	EFO	genetic disorder	Hereditary neutrophilia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:279943	"" []	573338	\N	\N	EFO	2	EFO	immune system disease	Hereditary neutrophilia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:279943	"" []	1155883	\N	\N	EFO	3	EFO	disease	Hereditary neutrophilia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:279943	"" []	1155884	\N	\N	EFO	3	EFO	disease	Hereditary neutrophilia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:279943	"" []	2038762	\N	\N	EFO	4	EFO	disposition	Hereditary neutrophilia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:279943	"" []	3189022	\N	\N	EFO	5	EFO	material property	Hereditary neutrophilia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:279943	"" []	4396013	\N	\N	EFO	6	EFO	experimental factor	Hereditary neutrophilia
Orphanet:28	\N	\N	"v2)." []	Orphanet:28	"v2)." []	75662	\N	\N	EFO	0	EFO	Vitamin B12-responsive methylmalonic acidemia	Vitamin B12-responsive methylmalonic acidemia
Orphanet:293355	Orphanet:28	\N	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	Orphanet:28	"v2)." []	218308	\N	\N	EFO	1	EFO	Methylmalonic acidemia without homocystinuria	Vitamin B12-responsive methylmalonic acidemia
Orphanet:79171	Orphanet:28	\N	"" []	Orphanet:28	"v2)." []	218309	\N	\N	EFO	1	EFO	Disorder of cobalamin metabolism and transport	Vitamin B12-responsive methylmalonic acidemia
Orphanet:93593	Orphanet:28	\N	"" []	Orphanet:28	"v2)." []	218310	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Vitamin B12-responsive methylmalonic acidemia
Orphanet:79163	Orphanet:293355	\N	"" []	Orphanet:28	"v2)." []	573339	\N	\N	EFO	2	EFO	Classic organic aciduria	Vitamin B12-responsive methylmalonic acidemia
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:28	"v2)." []	573340	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Vitamin B12-responsive methylmalonic acidemia
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:28	"v2)." []	573341	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Vitamin B12-responsive methylmalonic acidemia
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:28	"v2)." []	573342	\N	\N	EFO	2	EFO	Rare genetic renal disease	Vitamin B12-responsive methylmalonic acidemia
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:28	"v2)." []	1155885	\N	\N	EFO	3	EFO	Organic aciduria	Vitamin B12-responsive methylmalonic acidemia
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:28	"v2)." []	1155886	\N	\N	EFO	3	EFO	metabolic disease	Vitamin B12-responsive methylmalonic acidemia
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:28	"v2)." []	1155887	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Vitamin B12-responsive methylmalonic acidemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:28	"v2)." []	1155888	\N	\N	EFO	3	EFO	genetic disorder	Vitamin B12-responsive methylmalonic acidemia
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:28	"v2)." []	2038763	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Vitamin B12-responsive methylmalonic acidemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:28	"v2)." []	5182367	\N	\N	EFO	7	EFO	disease	Vitamin B12-responsive methylmalonic acidemia
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:28	"v2)." []	2038765	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Vitamin B12-responsive methylmalonic acidemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:28	"v2)." []	5182366	\N	\N	EFO	7	EFO	disease	Vitamin B12-responsive methylmalonic acidemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:28	"v2)." []	3189023	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Vitamin B12-responsive methylmalonic acidemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:28	"v2)." []	5817664	\N	\N	EFO	8	EFO	disposition	Vitamin B12-responsive methylmalonic acidemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:28	"v2)." []	4396014	\N	\N	EFO	6	EFO	genetic disorder	Vitamin B12-responsive methylmalonic acidemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:28	"v2)." []	4396015	\N	\N	EFO	6	EFO	metabolic disease	Vitamin B12-responsive methylmalonic acidemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:28	"v2)." []	6410067	\N	\N	EFO	9	EFO	material property	Vitamin B12-responsive methylmalonic acidemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:28	"v2)." []	6807909	\N	\N	EFO	10	EFO	experimental factor	Vitamin B12-responsive methylmalonic acidemia
Orphanet:280	\N	\N	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	75663	\N	\N	EFO	0	EFO	Wolf-Hirschhorn syndrome	Wolf-Hirschhorn syndrome
Orphanet:261884	Orphanet:280	\N	"" []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	218311	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 4	Wolf-Hirschhorn syndrome
Orphanet:90642	Orphanet:280	\N	"" []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	218312	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Wolf-Hirschhorn syndrome
Orphanet:261781	Orphanet:261884	\N	"" []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	573343	\N	\N	EFO	2	EFO	Partial deletion of chromosome 4	Wolf-Hirschhorn syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	573344	\N	\N	EFO	2	EFO	Rare genetic deafness	Wolf-Hirschhorn syndrome
Orphanet:98142	Orphanet:261781	\N	"" []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	1155889	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Wolf-Hirschhorn syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	1155890	\N	\N	EFO	3	EFO	genetic disorder	Wolf-Hirschhorn syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	1155891	\N	\N	EFO	3	EFO	auditory system disease	Wolf-Hirschhorn syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	2038767	\N	\N	EFO	4	EFO	Autosomal monosomy	Wolf-Hirschhorn syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	6150278	\N	\N	EFO	8	EFO	disease	Wolf-Hirschhorn syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	2038769	\N	\N	EFO	4	EFO	sensory system disease	Wolf-Hirschhorn syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	3189027	\N	\N	EFO	5	EFO	Autosomal anomaly	Wolf-Hirschhorn syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	6378914	\N	\N	EFO	9	EFO	disposition	Wolf-Hirschhorn syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	3189029	\N	\N	EFO	5	EFO	nervous system disease	Wolf-Hirschhorn syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	4396019	\N	\N	EFO	6	EFO	Chromosomal anomaly	Wolf-Hirschhorn syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	6778717	\N	\N	EFO	10	EFO	material property	Wolf-Hirschhorn syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	4396021	\N	\N	EFO	6	EFO	disease	Wolf-Hirschhorn syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	5413834	\N	\N	EFO	7	EFO	genetic disorder	Wolf-Hirschhorn syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280	"Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." []	7029910	\N	\N	EFO	11	EFO	experimental factor	Wolf-Hirschhorn syndrome
Orphanet:280071	\N	\N	"" []	Orphanet:280071	"" []	75664	\N	\N	EFO	0	EFO	ALG11-CDG	ALG11-CDG
Orphanet:309347	Orphanet:280071	\N	"" []	Orphanet:280071	"" []	218313	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	ALG11-CDG
Orphanet:371064	Orphanet:280071	\N	"" []	Orphanet:280071	"" []	218314	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	ALG11-CDG
Orphanet:371071	Orphanet:280071	\N	"" []	Orphanet:280071	"" []	218315	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	ALG11-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:280071	"" []	573345	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	ALG11-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:280071	"" []	573346	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	ALG11-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:280071	"" []	573347	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ALG11-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:280071	"" []	573348	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ALG11-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:280071	"" []	1155892	\N	\N	EFO	3	EFO	Inborn errors of metabolism	ALG11-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:280071	"" []	1155893	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	ALG11-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:280071	"" []	1155894	\N	\N	EFO	3	EFO	Neurometabolic disease	ALG11-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280071	"" []	2038770	\N	\N	EFO	4	EFO	genetic disorder	ALG11-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:280071	"" []	2038771	\N	\N	EFO	4	EFO	metabolic disease	ALG11-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:280071	"" []	2038772	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	ALG11-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:280071	"" []	2038773	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	ALG11-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280071	"" []	5182369	\N	\N	EFO	7	EFO	disease	ALG11-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280071	"" []	3189031	\N	\N	EFO	5	EFO	disease	ALG11-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:280071	"" []	3189032	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	ALG11-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280071	"" []	4396023	\N	\N	EFO	6	EFO	genetic disorder	ALG11-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280071	"" []	5877188	\N	\N	EFO	8	EFO	disposition	ALG11-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280071	"" []	6470419	\N	\N	EFO	9	EFO	material property	ALG11-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280071	"" []	6848515	\N	\N	EFO	10	EFO	experimental factor	ALG11-CDG
Orphanet:2801	\N	\N	"" []	Orphanet:2801	"" []	75665	\N	\N	EFO	0	EFO	Juvenile Paget disease	Juvenile Paget disease
Orphanet:93444	Orphanet:2801	\N	"" []	Orphanet:2801	"" []	218316	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Juvenile Paget disease
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:2801	"" []	573349	\N	\N	EFO	2	EFO	Primary bone dysplasia	Juvenile Paget disease
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2801	"" []	1155895	\N	\N	EFO	3	EFO	Rare genetic bone disease	Juvenile Paget disease
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2801	"" []	1155896	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Juvenile Paget disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2801	"" []	2038774	\N	\N	EFO	4	EFO	genetic disorder	Juvenile Paget disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2801	"" []	2038775	\N	\N	EFO	4	EFO	bone disease	Juvenile Paget disease
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2801	"" []	2038776	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Juvenile Paget disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2801	"" []	4396027	\N	\N	EFO	6	EFO	disease	Juvenile Paget disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2801	"" []	3189035	\N	\N	EFO	5	EFO	skeletal system disease	Juvenile Paget disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2801	"" []	3189036	\N	\N	EFO	5	EFO	genetic disorder	Juvenile Paget disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2801	"" []	5182370	\N	\N	EFO	7	EFO	disposition	Juvenile Paget disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2801	"" []	4396026	\N	\N	EFO	6	EFO	disease	Juvenile Paget disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2801	"" []	5997720	\N	\N	EFO	8	EFO	material property	Juvenile Paget disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2801	"" []	6551050	\N	\N	EFO	9	EFO	experimental factor	Juvenile Paget disease
Orphanet:280133	\N	\N	"" []	Orphanet:280133	"" []	75666	\N	\N	EFO	0	EFO	Complement component 3 deficiency	Complement component 3 deficiency
Orphanet:101992	Orphanet:280133	\N	"" []	Orphanet:280133	"" []	218317	\N	\N	EFO	1	EFO	Immunodeficiency due to a complement cascade protein anomaly	Complement component 3 deficiency
Orphanet:101988	Orphanet:101992	\N	"" []	Orphanet:280133	"" []	573350	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Complement component 3 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:280133	"" []	1155897	\N	\N	EFO	3	EFO	Primary immunodeficiency	Complement component 3 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:280133	"" []	2038777	\N	\N	EFO	4	EFO	Rare genetic immune disease	Complement component 3 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280133	"" []	3189037	\N	\N	EFO	5	EFO	genetic disorder	Complement component 3 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:280133	"" []	3189038	\N	\N	EFO	5	EFO	immune system disease	Complement component 3 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280133	"" []	4396028	\N	\N	EFO	6	EFO	disease	Complement component 3 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280133	"" []	4396029	\N	\N	EFO	6	EFO	disease	Complement component 3 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280133	"" []	5413839	\N	\N	EFO	7	EFO	disposition	Complement component 3 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280133	"" []	6150281	\N	\N	EFO	8	EFO	material property	Complement component 3 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280133	"" []	6633093	\N	\N	EFO	9	EFO	experimental factor	Complement component 3 deficiency
Orphanet:280142	\N	\N	"" []	Orphanet:280142	"" []	75667	\N	\N	EFO	0	EFO	Severe combined immunodeficiency due to LCK deficiency	Severe combined immunodeficiency due to LCK deficiency
Orphanet:317419	Orphanet:280142	\N	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	Orphanet:280142	"" []	218318	\N	\N	EFO	1	EFO	T-B- severe combined immunodeficiency	Severe combined immunodeficiency due to LCK deficiency
Orphanet:183660	Orphanet:317419	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:280142	"" []	573351	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	Severe combined immunodeficiency due to LCK deficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:280142	"" []	1155898	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	Severe combined immunodeficiency due to LCK deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:280142	"" []	2038778	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Severe combined immunodeficiency due to LCK deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:280142	"" []	3189039	\N	\N	EFO	5	EFO	Primary immunodeficiency	Severe combined immunodeficiency due to LCK deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:280142	"" []	4396030	\N	\N	EFO	6	EFO	Rare genetic immune disease	Severe combined immunodeficiency due to LCK deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280142	"" []	5413840	\N	\N	EFO	7	EFO	genetic disorder	Severe combined immunodeficiency due to LCK deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:280142	"" []	5413841	\N	\N	EFO	7	EFO	immune system disease	Severe combined immunodeficiency due to LCK deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280142	"" []	6150282	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to LCK deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280142	"" []	6150283	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to LCK deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280142	"" []	6633094	\N	\N	EFO	9	EFO	disposition	Severe combined immunodeficiency due to LCK deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280142	"" []	6925833	\N	\N	EFO	10	EFO	material property	Severe combined immunodeficiency due to LCK deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280142	"" []	7099166	\N	\N	EFO	11	EFO	experimental factor	Severe combined immunodeficiency due to LCK deficiency
Orphanet:280183	\N	\N	"" []	Orphanet:280183	"" []	75668	\N	\N	EFO	0	EFO	Methylmalonic aciduria due to transcobalamin receptor defect	Methylmalonic aciduria due to transcobalamin receptor defect
Orphanet:79171	Orphanet:280183	\N	"" []	Orphanet:280183	"" []	218319	\N	\N	EFO	1	EFO	Disorder of cobalamin metabolism and transport	Methylmalonic aciduria due to transcobalamin receptor defect
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:280183	"" []	573352	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Methylmalonic aciduria due to transcobalamin receptor defect
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:280183	"" []	573353	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Methylmalonic aciduria due to transcobalamin receptor defect
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:280183	"" []	1155899	\N	\N	EFO	3	EFO	metabolic disease	Methylmalonic aciduria due to transcobalamin receptor defect
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:280183	"" []	1155900	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Methylmalonic aciduria due to transcobalamin receptor defect
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280183	"" []	4396033	\N	\N	EFO	6	EFO	disease	Methylmalonic aciduria due to transcobalamin receptor defect
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:280183	"" []	2038780	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Methylmalonic aciduria due to transcobalamin receptor defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280183	"" []	5059888	\N	\N	EFO	7	EFO	disposition	Methylmalonic aciduria due to transcobalamin receptor defect
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280183	"" []	3189041	\N	\N	EFO	5	EFO	genetic disorder	Methylmalonic aciduria due to transcobalamin receptor defect
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:280183	"" []	3189042	\N	\N	EFO	5	EFO	metabolic disease	Methylmalonic aciduria due to transcobalamin receptor defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280183	"" []	5877189	\N	\N	EFO	8	EFO	material property	Methylmalonic aciduria due to transcobalamin receptor defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280183	"" []	4396032	\N	\N	EFO	6	EFO	disease	Methylmalonic aciduria due to transcobalamin receptor defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280183	"" []	6470420	\N	\N	EFO	9	EFO	experimental factor	Methylmalonic aciduria due to transcobalamin receptor defect
Orphanet:280195	\N	\N	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	75669	\N	\N	EFO	0	EFO	Septopreoptic holoprosencephaly	Septopreoptic holoprosencephaly
Orphanet:93924	Orphanet:280195	\N	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	218320	\N	\N	EFO	1	EFO	Lobar holoprosencephaly	Septopreoptic holoprosencephaly
Orphanet:2162	Orphanet:93924	\N	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	573354	\N	\N	EFO	2	EFO	Holoprosencephaly	Septopreoptic holoprosencephaly
Orphanet:102283	Orphanet:2162	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	1155901	\N	\N	EFO	3	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Septopreoptic holoprosencephaly
Orphanet:166478	Orphanet:2162	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	1155902	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Septopreoptic holoprosencephaly
Orphanet:183763	Orphanet:2162	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	1155903	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Septopreoptic holoprosencephaly
Orphanet:268926	Orphanet:2162	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	1155904	\N	\N	EFO	3	EFO	Midline cerebral malformation	Septopreoptic holoprosencephaly
Orphanet:95495	Orphanet:2162	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	1155905	\N	\N	EFO	3	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Septopreoptic holoprosencephaly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	2038781	\N	\N	EFO	4	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Septopreoptic holoprosencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	2038782	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Septopreoptic holoprosencephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	2038783	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Septopreoptic holoprosencephaly
Orphanet:269553	Orphanet:268926	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	2038784	\N	\N	EFO	4	EFO	Genetic cerebral malformation	Septopreoptic holoprosencephaly
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	2038785	\N	\N	EFO	4	EFO	Non-acquired combined pituitary hormone deficiency	Septopreoptic holoprosencephaly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	3189043	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Septopreoptic holoprosencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	3189044	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Septopreoptic holoprosencephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	3189045	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Septopreoptic holoprosencephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	3189046	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Septopreoptic holoprosencephaly
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	3189047	\N	\N	EFO	5	EFO	Non-acquired pituitary hormone deficiency	Septopreoptic holoprosencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	6150285	\N	\N	EFO	8	EFO	genetic disorder	Septopreoptic holoprosencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	6150286	\N	\N	EFO	8	EFO	genetic disorder	Septopreoptic holoprosencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	4396036	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Septopreoptic holoprosencephaly
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	4396037	\N	\N	EFO	6	EFO	Pituitary deficiency	Septopreoptic holoprosencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	6925835	\N	\N	EFO	10	EFO	disease	Septopreoptic holoprosencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	5413844	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Septopreoptic holoprosencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	5413845	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Septopreoptic holoprosencephaly
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	5413846	\N	\N	EFO	7	EFO	Rare genetic hypothalamic or pituitary disease	Septopreoptic holoprosencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	7048661	\N	\N	EFO	11	EFO	disposition	Septopreoptic holoprosencephaly
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	6150287	\N	\N	EFO	8	EFO	Rare genetic endocrine disease	Septopreoptic holoprosencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	7190225	\N	\N	EFO	12	EFO	material property	Septopreoptic holoprosencephaly
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	6633096	\N	\N	EFO	9	EFO	genetic disorder	Septopreoptic holoprosencephaly
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	6633097	\N	\N	EFO	9	EFO	endocrine system disease	Septopreoptic holoprosencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	7281820	\N	\N	EFO	13	EFO	experimental factor	Septopreoptic holoprosencephaly
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280195	"Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." []	6925836	\N	\N	EFO	10	EFO	disease	Septopreoptic holoprosencephaly
Orphanet:2802	\N	\N	"" []	Orphanet:2802	"" []	75670	\N	\N	EFO	0	EFO	X-linked sideroblastic anemia with ataxia	X-linked sideroblastic anemia with ataxia
Orphanet:247765	Orphanet:2802	\N	"" []	Orphanet:2802	"" []	218321	\N	\N	EFO	1	EFO	X-linked cerebellar ataxia	X-linked sideroblastic anemia with ataxia
Orphanet:254837	Orphanet:2802	\N	"" []	Orphanet:2802	"" []	218322	\N	\N	EFO	1	EFO	Unspecified mitochondrial disorder	X-linked sideroblastic anemia with ataxia
Orphanet:98362	Orphanet:2802	\N	"" []	Orphanet:2802	"" []	218323	\N	\N	EFO	1	EFO	Constitutional sideroblastic anemia	X-linked sideroblastic anemia with ataxia
Orphanet:183518	Orphanet:247765	\N	"" []	Orphanet:2802	"" []	573355	\N	\N	EFO	2	EFO	Rare hereditary ataxia	X-linked sideroblastic anemia with ataxia
Orphanet:68380	Orphanet:254837	\N	"" []	Orphanet:2802	"" []	573356	\N	\N	EFO	2	EFO	Mitochondrial disease	X-linked sideroblastic anemia with ataxia
Orphanet:183651	Orphanet:98362	\N	"" []	Orphanet:2802	"" []	573357	\N	\N	EFO	2	EFO	Rare constitutional anemia	X-linked sideroblastic anemia with ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:2802	"" []	1155906	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked sideroblastic anemia with ataxia
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:2802	"" []	1155907	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	X-linked sideroblastic anemia with ataxia
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:2802	"" []	1155908	\N	\N	EFO	3	EFO	Disorder of energy metabolism	X-linked sideroblastic anemia with ataxia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:2802	"" []	1155909	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	X-linked sideroblastic anemia with ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2802	"" []	2038786	\N	\N	EFO	4	EFO	genetic disorder	X-linked sideroblastic anemia with ataxia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:2802	"" []	2038787	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked sideroblastic anemia with ataxia
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:2802	"" []	2038788	\N	\N	EFO	4	EFO	Inborn errors of metabolism	X-linked sideroblastic anemia with ataxia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2802	"" []	2038789	\N	\N	EFO	4	EFO	genetic disorder	X-linked sideroblastic anemia with ataxia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:2802	"" []	2038790	\N	\N	EFO	4	EFO	hematological system disease	X-linked sideroblastic anemia with ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2802	"" []	4396039	\N	\N	EFO	6	EFO	disease	X-linked sideroblastic anemia with ataxia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2802	"" []	3189049	\N	\N	EFO	5	EFO	genetic disorder	X-linked sideroblastic anemia with ataxia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2802	"" []	3189050	\N	\N	EFO	5	EFO	genetic disorder	X-linked sideroblastic anemia with ataxia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2802	"" []	3189051	\N	\N	EFO	5	EFO	metabolic disease	X-linked sideroblastic anemia with ataxia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2802	"" []	3189052	\N	\N	EFO	5	EFO	disease	X-linked sideroblastic anemia with ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2802	"" []	5182371	\N	\N	EFO	7	EFO	disposition	X-linked sideroblastic anemia with ataxia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2802	"" []	4396040	\N	\N	EFO	6	EFO	disease	X-linked sideroblastic anemia with ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2802	"" []	5997721	\N	\N	EFO	8	EFO	material property	X-linked sideroblastic anemia with ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2802	"" []	6551051	\N	\N	EFO	9	EFO	experimental factor	X-linked sideroblastic anemia with ataxia
Orphanet:280200	\N	\N	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	75671	\N	\N	EFO	0	EFO	Microform holoprosencephaly	Microform holoprosencephaly
Orphanet:2162	Orphanet:280200	\N	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	218324	\N	\N	EFO	1	EFO	Holoprosencephaly	Microform holoprosencephaly
Orphanet:102283	Orphanet:2162	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	573358	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microform holoprosencephaly
Orphanet:166478	Orphanet:2162	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	573359	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Microform holoprosencephaly
Orphanet:183763	Orphanet:2162	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	573360	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Microform holoprosencephaly
Orphanet:268926	Orphanet:2162	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	573361	\N	\N	EFO	2	EFO	Midline cerebral malformation	Microform holoprosencephaly
Orphanet:95495	Orphanet:2162	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	573362	\N	\N	EFO	2	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Microform holoprosencephaly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	1155910	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microform holoprosencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	1155911	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Microform holoprosencephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	1155912	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Microform holoprosencephaly
Orphanet:269553	Orphanet:268926	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	1155913	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Microform holoprosencephaly
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	1155914	\N	\N	EFO	3	EFO	Non-acquired combined pituitary hormone deficiency	Microform holoprosencephaly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	2038791	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microform holoprosencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	2038792	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microform holoprosencephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	2038793	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microform holoprosencephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	2038794	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Microform holoprosencephaly
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	2038795	\N	\N	EFO	4	EFO	Non-acquired pituitary hormone deficiency	Microform holoprosencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	5413849	\N	\N	EFO	7	EFO	genetic disorder	Microform holoprosencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	5413850	\N	\N	EFO	7	EFO	genetic disorder	Microform holoprosencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	3189055	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Microform holoprosencephaly
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	3189056	\N	\N	EFO	5	EFO	Pituitary deficiency	Microform holoprosencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	6633099	\N	\N	EFO	9	EFO	disease	Microform holoprosencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	4396042	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Microform holoprosencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	4396043	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Microform holoprosencephaly
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	4396044	\N	\N	EFO	6	EFO	Rare genetic hypothalamic or pituitary disease	Microform holoprosencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	6807910	\N	\N	EFO	10	EFO	disposition	Microform holoprosencephaly
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	5413851	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Microform holoprosencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	7048662	\N	\N	EFO	11	EFO	material property	Microform holoprosencephaly
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	6150290	\N	\N	EFO	8	EFO	genetic disorder	Microform holoprosencephaly
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	6150291	\N	\N	EFO	8	EFO	endocrine system disease	Microform holoprosencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	7190226	\N	\N	EFO	12	EFO	experimental factor	Microform holoprosencephaly
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280200	"Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." []	6633100	\N	\N	EFO	9	EFO	disease	Microform holoprosencephaly
Orphanet:280210	\N	\N	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	75672	\N	\N	EFO	0	EFO	Pelizaeus-Merzbacher disease, connatal form	Pelizaeus-Merzbacher disease, connatal form
Orphanet:702	Orphanet:280210	\N	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	218325	\N	\N	EFO	1	EFO	Pelizaeus-Merzbacher disease	Pelizaeus-Merzbacher disease, connatal form
Orphanet:183500	Orphanet:702	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	573363	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Pelizaeus-Merzbacher disease, connatal form
Orphanet:68356	Orphanet:702	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	573364	\N	\N	EFO	2	EFO	Leukodystrophy	Pelizaeus-Merzbacher disease, connatal form
Orphanet:98464	Orphanet:702	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	573365	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Pelizaeus-Merzbacher disease, connatal form
Orphanet:98678	Orphanet:702	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	573366	\N	\N	EFO	2	EFO	X-linked recessive optic atrophy	Pelizaeus-Merzbacher disease, connatal form
Orphanet:98691	Orphanet:702	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	573367	\N	\N	EFO	2	EFO	Abnormal eye movements	Pelizaeus-Merzbacher disease, connatal form
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	1155915	\N	\N	EFO	3	EFO	neurodegenerative disease	Pelizaeus-Merzbacher disease, connatal form
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	1155916	\N	\N	EFO	3	EFO	brain disease	Pelizaeus-Merzbacher disease, connatal form
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	1155917	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease, connatal form
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	1155918	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease, connatal form
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	1155919	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Pelizaeus-Merzbacher disease, connatal form
Orphanet:103	Orphanet:98678	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	1155920	\N	\N	EFO	3	EFO	Genetic optic atrophy	Pelizaeus-Merzbacher disease, connatal form
Orphanet:183616	Orphanet:98691	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	1155921	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Pelizaeus-Merzbacher disease, connatal form
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	2038796	\N	\N	EFO	4	EFO	nervous system disease	Pelizaeus-Merzbacher disease, connatal form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	2038797	\N	\N	EFO	4	EFO	nervous system disease	Pelizaeus-Merzbacher disease, connatal form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	4396046	\N	\N	EFO	6	EFO	genetic disorder	Pelizaeus-Merzbacher disease, connatal form
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	2038799	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Pelizaeus-Merzbacher disease, connatal form
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	2038800	\N	\N	EFO	4	EFO	Optic neuropathy	Pelizaeus-Merzbacher disease, connatal form
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	2038801	\N	\N	EFO	4	EFO	Rare genetic eye disease	Pelizaeus-Merzbacher disease, connatal form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	3189057	\N	\N	EFO	5	EFO	disease	Pelizaeus-Merzbacher disease, connatal form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	5059889	\N	\N	EFO	7	EFO	disease	Pelizaeus-Merzbacher disease, connatal form
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	3189059	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease, connatal form
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	3189060	\N	\N	EFO	5	EFO	Rare genetic eye disease	Pelizaeus-Merzbacher disease, connatal form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	4396047	\N	\N	EFO	6	EFO	genetic disorder	Pelizaeus-Merzbacher disease, connatal form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	4396048	\N	\N	EFO	6	EFO	eye disease	Pelizaeus-Merzbacher disease, connatal form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	5877191	\N	\N	EFO	8	EFO	disposition	Pelizaeus-Merzbacher disease, connatal form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	5182373	\N	\N	EFO	7	EFO	disease	Pelizaeus-Merzbacher disease, connatal form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	6470423	\N	\N	EFO	9	EFO	material property	Pelizaeus-Merzbacher disease, connatal form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280210	"The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." []	6848518	\N	\N	EFO	10	EFO	experimental factor	Pelizaeus-Merzbacher disease, connatal form
Orphanet:280219	\N	\N	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	75673	\N	\N	EFO	0	EFO	Pelizaeus-Merzbacher disease, classic form	Pelizaeus-Merzbacher disease, classic form
Orphanet:702	Orphanet:280219	\N	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	218326	\N	\N	EFO	1	EFO	Pelizaeus-Merzbacher disease	Pelizaeus-Merzbacher disease, classic form
Orphanet:183500	Orphanet:702	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	573368	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Pelizaeus-Merzbacher disease, classic form
Orphanet:68356	Orphanet:702	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	573369	\N	\N	EFO	2	EFO	Leukodystrophy	Pelizaeus-Merzbacher disease, classic form
Orphanet:98464	Orphanet:702	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	573370	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Pelizaeus-Merzbacher disease, classic form
Orphanet:98678	Orphanet:702	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	573371	\N	\N	EFO	2	EFO	X-linked recessive optic atrophy	Pelizaeus-Merzbacher disease, classic form
Orphanet:98691	Orphanet:702	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	573372	\N	\N	EFO	2	EFO	Abnormal eye movements	Pelizaeus-Merzbacher disease, classic form
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	1155922	\N	\N	EFO	3	EFO	neurodegenerative disease	Pelizaeus-Merzbacher disease, classic form
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	1155923	\N	\N	EFO	3	EFO	brain disease	Pelizaeus-Merzbacher disease, classic form
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	1155924	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease, classic form
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	1155925	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease, classic form
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	1155926	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Pelizaeus-Merzbacher disease, classic form
Orphanet:103	Orphanet:98678	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	1155927	\N	\N	EFO	3	EFO	Genetic optic atrophy	Pelizaeus-Merzbacher disease, classic form
Orphanet:183616	Orphanet:98691	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	1155928	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Pelizaeus-Merzbacher disease, classic form
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	2038802	\N	\N	EFO	4	EFO	nervous system disease	Pelizaeus-Merzbacher disease, classic form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	2038803	\N	\N	EFO	4	EFO	nervous system disease	Pelizaeus-Merzbacher disease, classic form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	4396052	\N	\N	EFO	6	EFO	genetic disorder	Pelizaeus-Merzbacher disease, classic form
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	2038805	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Pelizaeus-Merzbacher disease, classic form
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	2038806	\N	\N	EFO	4	EFO	Optic neuropathy	Pelizaeus-Merzbacher disease, classic form
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	2038807	\N	\N	EFO	4	EFO	Rare genetic eye disease	Pelizaeus-Merzbacher disease, classic form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	3189063	\N	\N	EFO	5	EFO	disease	Pelizaeus-Merzbacher disease, classic form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	5059890	\N	\N	EFO	7	EFO	disease	Pelizaeus-Merzbacher disease, classic form
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	3189065	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease, classic form
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	3189066	\N	\N	EFO	5	EFO	Rare genetic eye disease	Pelizaeus-Merzbacher disease, classic form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	4396053	\N	\N	EFO	6	EFO	genetic disorder	Pelizaeus-Merzbacher disease, classic form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	4396054	\N	\N	EFO	6	EFO	eye disease	Pelizaeus-Merzbacher disease, classic form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	5877192	\N	\N	EFO	8	EFO	disposition	Pelizaeus-Merzbacher disease, classic form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	5182375	\N	\N	EFO	7	EFO	disease	Pelizaeus-Merzbacher disease, classic form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	6470424	\N	\N	EFO	9	EFO	material property	Pelizaeus-Merzbacher disease, classic form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280219	"The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." []	6848519	\N	\N	EFO	10	EFO	experimental factor	Pelizaeus-Merzbacher disease, classic form
Orphanet:280224	\N	\N	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	75674	\N	\N	EFO	0	EFO	Pelizaeus-Merzbacher disease, transitional form	Pelizaeus-Merzbacher disease, transitional form
Orphanet:702	Orphanet:280224	\N	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	218327	\N	\N	EFO	1	EFO	Pelizaeus-Merzbacher disease	Pelizaeus-Merzbacher disease, transitional form
Orphanet:183500	Orphanet:702	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	573373	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Pelizaeus-Merzbacher disease, transitional form
Orphanet:68356	Orphanet:702	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	573374	\N	\N	EFO	2	EFO	Leukodystrophy	Pelizaeus-Merzbacher disease, transitional form
Orphanet:98464	Orphanet:702	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	573375	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Pelizaeus-Merzbacher disease, transitional form
Orphanet:98678	Orphanet:702	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	573376	\N	\N	EFO	2	EFO	X-linked recessive optic atrophy	Pelizaeus-Merzbacher disease, transitional form
Orphanet:98691	Orphanet:702	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	573377	\N	\N	EFO	2	EFO	Abnormal eye movements	Pelizaeus-Merzbacher disease, transitional form
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	1155929	\N	\N	EFO	3	EFO	neurodegenerative disease	Pelizaeus-Merzbacher disease, transitional form
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	1155930	\N	\N	EFO	3	EFO	brain disease	Pelizaeus-Merzbacher disease, transitional form
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	1155931	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease, transitional form
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	1155932	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease, transitional form
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	1155933	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Pelizaeus-Merzbacher disease, transitional form
Orphanet:103	Orphanet:98678	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	1155934	\N	\N	EFO	3	EFO	Genetic optic atrophy	Pelizaeus-Merzbacher disease, transitional form
Orphanet:183616	Orphanet:98691	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	1155935	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Pelizaeus-Merzbacher disease, transitional form
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	2038808	\N	\N	EFO	4	EFO	nervous system disease	Pelizaeus-Merzbacher disease, transitional form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	2038809	\N	\N	EFO	4	EFO	nervous system disease	Pelizaeus-Merzbacher disease, transitional form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	4396058	\N	\N	EFO	6	EFO	genetic disorder	Pelizaeus-Merzbacher disease, transitional form
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	2038811	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Pelizaeus-Merzbacher disease, transitional form
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	2038812	\N	\N	EFO	4	EFO	Optic neuropathy	Pelizaeus-Merzbacher disease, transitional form
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	2038813	\N	\N	EFO	4	EFO	Rare genetic eye disease	Pelizaeus-Merzbacher disease, transitional form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	3189069	\N	\N	EFO	5	EFO	disease	Pelizaeus-Merzbacher disease, transitional form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	5059891	\N	\N	EFO	7	EFO	disease	Pelizaeus-Merzbacher disease, transitional form
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	3189071	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease, transitional form
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	3189072	\N	\N	EFO	5	EFO	Rare genetic eye disease	Pelizaeus-Merzbacher disease, transitional form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	4396059	\N	\N	EFO	6	EFO	genetic disorder	Pelizaeus-Merzbacher disease, transitional form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	4396060	\N	\N	EFO	6	EFO	eye disease	Pelizaeus-Merzbacher disease, transitional form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	5877193	\N	\N	EFO	8	EFO	disposition	Pelizaeus-Merzbacher disease, transitional form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	5182377	\N	\N	EFO	7	EFO	disease	Pelizaeus-Merzbacher disease, transitional form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	6470425	\N	\N	EFO	9	EFO	material property	Pelizaeus-Merzbacher disease, transitional form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280224	"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." []	6848520	\N	\N	EFO	10	EFO	experimental factor	Pelizaeus-Merzbacher disease, transitional form
Orphanet:280229	\N	\N	" gene (Xq22)." []	Orphanet:280229	" gene (Xq22)." []	75675	\N	\N	EFO	0	EFO	Pelizaeus-Merzbacher disease in female carriers	Pelizaeus-Merzbacher disease in female carriers
Orphanet:702	Orphanet:280229	\N	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	Orphanet:280229	" gene (Xq22)." []	218328	\N	\N	EFO	1	EFO	Pelizaeus-Merzbacher disease	Pelizaeus-Merzbacher disease in female carriers
Orphanet:183500	Orphanet:702	\N	"" []	Orphanet:280229	" gene (Xq22)." []	573378	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Pelizaeus-Merzbacher disease in female carriers
Orphanet:68356	Orphanet:702	\N	"" []	Orphanet:280229	" gene (Xq22)." []	573379	\N	\N	EFO	2	EFO	Leukodystrophy	Pelizaeus-Merzbacher disease in female carriers
Orphanet:98464	Orphanet:702	\N	"" []	Orphanet:280229	" gene (Xq22)." []	573380	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Pelizaeus-Merzbacher disease in female carriers
Orphanet:98678	Orphanet:702	\N	"" []	Orphanet:280229	" gene (Xq22)." []	573381	\N	\N	EFO	2	EFO	X-linked recessive optic atrophy	Pelizaeus-Merzbacher disease in female carriers
Orphanet:98691	Orphanet:702	\N	"" []	Orphanet:280229	" gene (Xq22)." []	573382	\N	\N	EFO	2	EFO	Abnormal eye movements	Pelizaeus-Merzbacher disease in female carriers
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:280229	" gene (Xq22)." []	1155936	\N	\N	EFO	3	EFO	neurodegenerative disease	Pelizaeus-Merzbacher disease in female carriers
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:280229	" gene (Xq22)." []	1155937	\N	\N	EFO	3	EFO	brain disease	Pelizaeus-Merzbacher disease in female carriers
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:280229	" gene (Xq22)." []	1155938	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease in female carriers
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:280229	" gene (Xq22)." []	1155939	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease in female carriers
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:280229	" gene (Xq22)." []	1155940	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Pelizaeus-Merzbacher disease in female carriers
Orphanet:103	Orphanet:98678	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:280229	" gene (Xq22)." []	1155941	\N	\N	EFO	3	EFO	Genetic optic atrophy	Pelizaeus-Merzbacher disease in female carriers
Orphanet:183616	Orphanet:98691	\N	"" []	Orphanet:280229	" gene (Xq22)." []	1155942	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Pelizaeus-Merzbacher disease in female carriers
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280229	" gene (Xq22)." []	2038814	\N	\N	EFO	4	EFO	nervous system disease	Pelizaeus-Merzbacher disease in female carriers
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280229	" gene (Xq22)." []	2038815	\N	\N	EFO	4	EFO	nervous system disease	Pelizaeus-Merzbacher disease in female carriers
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280229	" gene (Xq22)." []	4396064	\N	\N	EFO	6	EFO	genetic disorder	Pelizaeus-Merzbacher disease in female carriers
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:280229	" gene (Xq22)." []	2038817	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Pelizaeus-Merzbacher disease in female carriers
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:280229	" gene (Xq22)." []	2038818	\N	\N	EFO	4	EFO	Optic neuropathy	Pelizaeus-Merzbacher disease in female carriers
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:280229	" gene (Xq22)." []	2038819	\N	\N	EFO	4	EFO	Rare genetic eye disease	Pelizaeus-Merzbacher disease in female carriers
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280229	" gene (Xq22)." []	3189075	\N	\N	EFO	5	EFO	disease	Pelizaeus-Merzbacher disease in female carriers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280229	" gene (Xq22)." []	5059892	\N	\N	EFO	7	EFO	disease	Pelizaeus-Merzbacher disease in female carriers
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:280229	" gene (Xq22)." []	3189077	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease in female carriers
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:280229	" gene (Xq22)." []	3189078	\N	\N	EFO	5	EFO	Rare genetic eye disease	Pelizaeus-Merzbacher disease in female carriers
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280229	" gene (Xq22)." []	4396065	\N	\N	EFO	6	EFO	genetic disorder	Pelizaeus-Merzbacher disease in female carriers
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:280229	" gene (Xq22)." []	4396066	\N	\N	EFO	6	EFO	eye disease	Pelizaeus-Merzbacher disease in female carriers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280229	" gene (Xq22)." []	5877194	\N	\N	EFO	8	EFO	disposition	Pelizaeus-Merzbacher disease in female carriers
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280229	" gene (Xq22)." []	5182379	\N	\N	EFO	7	EFO	disease	Pelizaeus-Merzbacher disease in female carriers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280229	" gene (Xq22)." []	6470426	\N	\N	EFO	9	EFO	material property	Pelizaeus-Merzbacher disease in female carriers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280229	" gene (Xq22)." []	6848521	\N	\N	EFO	10	EFO	experimental factor	Pelizaeus-Merzbacher disease in female carriers
Orphanet:280234	\N	\N	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	75676	\N	\N	EFO	0	EFO	Null syndrome	Null syndrome
Orphanet:702	Orphanet:280234	\N	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	218329	\N	\N	EFO	1	EFO	Pelizaeus-Merzbacher disease	Null syndrome
Orphanet:183500	Orphanet:702	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	573383	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Null syndrome
Orphanet:68356	Orphanet:702	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	573384	\N	\N	EFO	2	EFO	Leukodystrophy	Null syndrome
Orphanet:98464	Orphanet:702	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	573385	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Null syndrome
Orphanet:98678	Orphanet:702	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	573386	\N	\N	EFO	2	EFO	X-linked recessive optic atrophy	Null syndrome
Orphanet:98691	Orphanet:702	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	573387	\N	\N	EFO	2	EFO	Abnormal eye movements	Null syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	1155943	\N	\N	EFO	3	EFO	neurodegenerative disease	Null syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	1155944	\N	\N	EFO	3	EFO	brain disease	Null syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	1155945	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Null syndrome
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	1155946	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Null syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	1155947	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Null syndrome
Orphanet:103	Orphanet:98678	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	1155948	\N	\N	EFO	3	EFO	Genetic optic atrophy	Null syndrome
Orphanet:183616	Orphanet:98691	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	1155949	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Null syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	2038820	\N	\N	EFO	4	EFO	nervous system disease	Null syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	2038821	\N	\N	EFO	4	EFO	nervous system disease	Null syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	4396070	\N	\N	EFO	6	EFO	genetic disorder	Null syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	2038823	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Null syndrome
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	2038824	\N	\N	EFO	4	EFO	Optic neuropathy	Null syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	2038825	\N	\N	EFO	4	EFO	Rare genetic eye disease	Null syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	3189081	\N	\N	EFO	5	EFO	disease	Null syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	5059893	\N	\N	EFO	7	EFO	disease	Null syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	3189083	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Null syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	3189084	\N	\N	EFO	5	EFO	Rare genetic eye disease	Null syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	4396071	\N	\N	EFO	6	EFO	genetic disorder	Null syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	4396072	\N	\N	EFO	6	EFO	eye disease	Null syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	5877195	\N	\N	EFO	8	EFO	disposition	Null syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	5182381	\N	\N	EFO	7	EFO	disease	Null syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	6470427	\N	\N	EFO	9	EFO	material property	Null syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280234	"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." []	6848522	\N	\N	EFO	10	EFO	experimental factor	Null syndrome
Orphanet:280270	\N	\N	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	Orphanet:280270	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	75677	\N	\N	EFO	0	EFO	Pelizaeus-Merzbacher-like disease	Pelizaeus-Merzbacher-like disease
Orphanet:68356	Orphanet:280270	\N	"" []	Orphanet:280270	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	218330	\N	\N	EFO	1	EFO	Leukodystrophy	Pelizaeus-Merzbacher-like disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:280270	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	573388	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher-like disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280270	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	1155950	\N	\N	EFO	3	EFO	genetic disorder	Pelizaeus-Merzbacher-like disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280270	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	2038826	\N	\N	EFO	4	EFO	disease	Pelizaeus-Merzbacher-like disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280270	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	3189087	\N	\N	EFO	5	EFO	disposition	Pelizaeus-Merzbacher-like disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280270	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	4396075	\N	\N	EFO	6	EFO	material property	Pelizaeus-Merzbacher-like disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280270	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	5413857	\N	\N	EFO	7	EFO	experimental factor	Pelizaeus-Merzbacher-like disease
Orphanet:280282	\N	\N	"" []	Orphanet:280282	"" []	75678	\N	\N	EFO	0	EFO	Pelizaeus-Merzbacher-like disease due to GJC2 mutation	Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Orphanet:280270	Orphanet:280282	\N	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	Orphanet:280282	"" []	218331	\N	\N	EFO	1	EFO	Pelizaeus-Merzbacher-like disease	Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Orphanet:68356	Orphanet:280270	\N	"" []	Orphanet:280282	"" []	573389	\N	\N	EFO	2	EFO	Leukodystrophy	Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:280282	"" []	1155951	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher-like disease due to GJC2 mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280282	"" []	2038827	\N	\N	EFO	4	EFO	genetic disorder	Pelizaeus-Merzbacher-like disease due to GJC2 mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280282	"" []	3189088	\N	\N	EFO	5	EFO	disease	Pelizaeus-Merzbacher-like disease due to GJC2 mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280282	"" []	4396076	\N	\N	EFO	6	EFO	disposition	Pelizaeus-Merzbacher-like disease due to GJC2 mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280282	"" []	5413858	\N	\N	EFO	7	EFO	material property	Pelizaeus-Merzbacher-like disease due to GJC2 mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280282	"" []	6150297	\N	\N	EFO	8	EFO	experimental factor	Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Orphanet:280288	\N	\N	"" []	Orphanet:280288	"" []	75679	\N	\N	EFO	0	EFO	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Orphanet:280270	Orphanet:280288	\N	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	Orphanet:280288	"" []	218332	\N	\N	EFO	1	EFO	Pelizaeus-Merzbacher-like disease	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Orphanet:68356	Orphanet:280270	\N	"" []	Orphanet:280288	"" []	573390	\N	\N	EFO	2	EFO	Leukodystrophy	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:280288	"" []	1155952	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280288	"" []	2038828	\N	\N	EFO	4	EFO	genetic disorder	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280288	"" []	3189089	\N	\N	EFO	5	EFO	disease	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280288	"" []	4396077	\N	\N	EFO	6	EFO	disposition	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280288	"" []	5413859	\N	\N	EFO	7	EFO	material property	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280288	"" []	6150298	\N	\N	EFO	8	EFO	experimental factor	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Orphanet:280293	\N	\N	"" []	Orphanet:280293	"" []	75680	\N	\N	EFO	0	EFO	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Orphanet:280270	Orphanet:280293	\N	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	Orphanet:280293	"" []	218333	\N	\N	EFO	1	EFO	Pelizaeus-Merzbacher-like disease	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Orphanet:68356	Orphanet:280270	\N	"" []	Orphanet:280293	"" []	573391	\N	\N	EFO	2	EFO	Leukodystrophy	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:280293	"" []	1155953	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280293	"" []	2038829	\N	\N	EFO	4	EFO	genetic disorder	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280293	"" []	3189090	\N	\N	EFO	5	EFO	disease	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280293	"" []	4396078	\N	\N	EFO	6	EFO	disposition	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280293	"" []	5413860	\N	\N	EFO	7	EFO	material property	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280293	"" []	6150299	\N	\N	EFO	8	EFO	experimental factor	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Orphanet:280325	\N	\N	"" []	Orphanet:280325	"" []	75681	\N	\N	EFO	0	EFO	Distal monosomy 12p	Distal monosomy 12p
Orphanet:316244	Orphanet:280325	\N	"" []	Orphanet:280325	"" []	218334	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 12	Distal monosomy 12p
Orphanet:282124	Orphanet:316244	\N	"" []	Orphanet:280325	"" []	573392	\N	\N	EFO	2	EFO	Partial deletion of chromosome 12	Distal monosomy 12p
Orphanet:98142	Orphanet:282124	\N	"" []	Orphanet:280325	"" []	1155954	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 12p
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:280325	"" []	2038830	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 12p
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:280325	"" []	3189091	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 12p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:280325	"" []	4396079	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 12p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280325	"" []	5413861	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 12p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280325	"" []	6150300	\N	\N	EFO	8	EFO	disease	Distal monosomy 12p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280325	"" []	6633101	\N	\N	EFO	9	EFO	disposition	Distal monosomy 12p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280325	"" []	6925837	\N	\N	EFO	10	EFO	material property	Distal monosomy 12p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280325	"" []	7099167	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 12p
Orphanet:280333	\N	\N	"" []	Orphanet:280333	"" []	75682	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2P	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:102015	Orphanet:280333	\N	"" []	Orphanet:280333	"" []	218335	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:207113	Orphanet:280333	\N	"" []	Orphanet:280333	"" []	218336	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:371040	Orphanet:280333	\N	"" []	Orphanet:280333	"" []	218337	\N	\N	EFO	1	EFO	Primary qualitative or quantitative defects of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:371064	Orphanet:280333	\N	"" []	Orphanet:280333	"" []	218338	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:280333	"" []	573393	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:280333	"" []	573394	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:371024	Orphanet:371040	\N	"" []	Orphanet:280333	"" []	573395	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:280333	"" []	573396	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:280333	"" []	573397	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:280333	"" []	1155955	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:280333	"" []	1155956	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:280333	"" []	1155957	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:280333	"" []	1155958	\N	\N	EFO	3	EFO	Neurometabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:280333	"" []	2038831	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:280333	"" []	2038832	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:280333	"" []	2038833	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:280333	"" []	2038834	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:280333	"" []	3189092	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2P
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:280333	"" []	5413862	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:280333	"" []	5413863	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:280333	"" []	3189095	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2P
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280333	"" []	5877197	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:280333	"" []	4396080	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2P
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:280333	"" []	5877196	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2P
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280333	"" []	6410068	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2P
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280333	"" []	6470428	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2P
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280333	"" []	6807911	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2P
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280333	"" []	7048663	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2P
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280333	"" []	7190227	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2P
Orphanet:280356	\N	\N	"" []	Orphanet:280356	"" []	75683	\N	\N	EFO	0	EFO	Familial partial lipodystrophy associated with PLIN1 mutations	Familial partial lipodystrophy associated with PLIN1 mutations
Orphanet:181368	Orphanet:280356	\N	"" []	Orphanet:280356	"" []	218339	\N	\N	EFO	1	EFO	Rare insulin-resistance syndrome	Familial partial lipodystrophy associated with PLIN1 mutations
Orphanet:98306	Orphanet:280356	\N	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	Orphanet:280356	"" []	218340	\N	\N	EFO	1	EFO	Familial partial lipodystrophy	Familial partial lipodystrophy associated with PLIN1 mutations
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:280356	"" []	573398	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:1000727	Orphanet:98306	\N	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	Orphanet:280356	"" []	573399	\N	\N	EFO	2	EFO	lipodystrophy	Familial partial lipodystrophy associated with PLIN1 mutations
Orphanet:98305	Orphanet:98306	\N	"" []	Orphanet:280356	"" []	573400	\N	\N	EFO	2	EFO	Genetic lipodystrophy	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:280356	"" []	1155959	\N	\N	EFO	3	EFO	diabetes mellitus	Familial partial lipodystrophy associated with PLIN1 mutations
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:280356	"" []	1155960	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:0000701	EFO:1000727	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:280356	"" []	1155961	\N	\N	EFO	3	EFO	skin disease	Familial partial lipodystrophy associated with PLIN1 mutations
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:280356	"" []	1155962	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial partial lipodystrophy associated with PLIN1 mutations
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:280356	"" []	1155963	\N	\N	EFO	3	EFO	Primary lipodystrophy	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:280356	"" []	2038835	\N	\N	EFO	4	EFO	metabolic disease	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280356	"" []	2038836	\N	\N	EFO	4	EFO	genetic disorder	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:280356	"" []	2038837	\N	\N	EFO	4	EFO	endocrine system disease	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280356	"" []	5413868	\N	\N	EFO	7	EFO	disease	Familial partial lipodystrophy associated with PLIN1 mutations
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:280356	"" []	2038839	\N	\N	EFO	4	EFO	Genetic subcutaneous tissue disorder	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280356	"" []	3189097	\N	\N	EFO	5	EFO	disease	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280356	"" []	5413867	\N	\N	EFO	7	EFO	disease	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280356	"" []	3189099	\N	\N	EFO	5	EFO	disease	Familial partial lipodystrophy associated with PLIN1 mutations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280356	"" []	5817665	\N	\N	EFO	8	EFO	disposition	Familial partial lipodystrophy associated with PLIN1 mutations
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:280356	"" []	3189101	\N	\N	EFO	5	EFO	Rare genetic skin disease	Familial partial lipodystrophy associated with PLIN1 mutations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280356	"" []	6410069	\N	\N	EFO	9	EFO	material property	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280356	"" []	4396086	\N	\N	EFO	6	EFO	genetic disorder	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:280356	"" []	4396087	\N	\N	EFO	6	EFO	skin disease	Familial partial lipodystrophy associated with PLIN1 mutations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280356	"" []	6807912	\N	\N	EFO	10	EFO	experimental factor	Familial partial lipodystrophy associated with PLIN1 mutations
Orphanet:280365	\N	\N	"" []	Orphanet:280365	"" []	75684	\N	\N	EFO	0	EFO	Autosomal codominant severe lipodystrophic laminopathy	Autosomal codominant severe lipodystrophic laminopathy
Orphanet:181368	Orphanet:280365	\N	"" []	Orphanet:280365	"" []	218341	\N	\N	EFO	1	EFO	Rare insulin-resistance syndrome	Autosomal codominant severe lipodystrophic laminopathy
Orphanet:98306	Orphanet:280365	\N	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	Orphanet:280365	"" []	218342	\N	\N	EFO	1	EFO	Familial partial lipodystrophy	Autosomal codominant severe lipodystrophic laminopathy
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:280365	"" []	573401	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Autosomal codominant severe lipodystrophic laminopathy
EFO:1000727	Orphanet:98306	\N	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	Orphanet:280365	"" []	573402	\N	\N	EFO	2	EFO	lipodystrophy	Autosomal codominant severe lipodystrophic laminopathy
Orphanet:98305	Orphanet:98306	\N	"" []	Orphanet:280365	"" []	573403	\N	\N	EFO	2	EFO	Genetic lipodystrophy	Autosomal codominant severe lipodystrophic laminopathy
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:280365	"" []	1155964	\N	\N	EFO	3	EFO	diabetes mellitus	Autosomal codominant severe lipodystrophic laminopathy
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:280365	"" []	1155965	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Autosomal codominant severe lipodystrophic laminopathy
EFO:0000701	EFO:1000727	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:280365	"" []	1155966	\N	\N	EFO	3	EFO	skin disease	Autosomal codominant severe lipodystrophic laminopathy
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:280365	"" []	1155967	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Autosomal codominant severe lipodystrophic laminopathy
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:280365	"" []	1155968	\N	\N	EFO	3	EFO	Primary lipodystrophy	Autosomal codominant severe lipodystrophic laminopathy
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:280365	"" []	2038840	\N	\N	EFO	4	EFO	metabolic disease	Autosomal codominant severe lipodystrophic laminopathy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280365	"" []	2038841	\N	\N	EFO	4	EFO	genetic disorder	Autosomal codominant severe lipodystrophic laminopathy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:280365	"" []	2038842	\N	\N	EFO	4	EFO	endocrine system disease	Autosomal codominant severe lipodystrophic laminopathy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280365	"" []	5413871	\N	\N	EFO	7	EFO	disease	Autosomal codominant severe lipodystrophic laminopathy
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:280365	"" []	2038844	\N	\N	EFO	4	EFO	Genetic subcutaneous tissue disorder	Autosomal codominant severe lipodystrophic laminopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280365	"" []	3189102	\N	\N	EFO	5	EFO	disease	Autosomal codominant severe lipodystrophic laminopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280365	"" []	5413870	\N	\N	EFO	7	EFO	disease	Autosomal codominant severe lipodystrophic laminopathy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280365	"" []	3189104	\N	\N	EFO	5	EFO	disease	Autosomal codominant severe lipodystrophic laminopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280365	"" []	5817666	\N	\N	EFO	8	EFO	disposition	Autosomal codominant severe lipodystrophic laminopathy
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:280365	"" []	3189106	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal codominant severe lipodystrophic laminopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280365	"" []	6410070	\N	\N	EFO	9	EFO	material property	Autosomal codominant severe lipodystrophic laminopathy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280365	"" []	4396090	\N	\N	EFO	6	EFO	genetic disorder	Autosomal codominant severe lipodystrophic laminopathy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:280365	"" []	4396091	\N	\N	EFO	6	EFO	skin disease	Autosomal codominant severe lipodystrophic laminopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280365	"" []	6807913	\N	\N	EFO	10	EFO	experimental factor	Autosomal codominant severe lipodystrophic laminopathy
Orphanet:280379	\N	\N	"" []	Orphanet:280379	"" []	75685	\N	\N	EFO	0	EFO	Erythropoietic uroporphyria associated with myeloid malignancy	Erythropoietic uroporphyria associated with myeloid malignancy
Orphanet:738	Orphanet:280379	\N	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	Orphanet:280379	"" []	218343	\N	\N	EFO	1	EFO	Porphyria	Erythropoietic uroporphyria associated with myeloid malignancy
Orphanet:183490	Orphanet:738	\N	"" []	Orphanet:280379	"" []	573404	\N	\N	EFO	2	EFO	Genetic photodermatosis	Erythropoietic uroporphyria associated with myeloid malignancy
Orphanet:309813	Orphanet:738	\N	"" []	Orphanet:280379	"" []	573405	\N	\N	EFO	2	EFO	Disorder of porphyrin and haem metabolism	Erythropoietic uroporphyria associated with myeloid malignancy
Orphanet:79387	Orphanet:738	\N	"" []	Orphanet:280379	"" []	573406	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Erythropoietic uroporphyria associated with myeloid malignancy
Orphanet:93593	Orphanet:738	\N	"" []	Orphanet:280379	"" []	573407	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Erythropoietic uroporphyria associated with myeloid malignancy
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:280379	"" []	1155969	\N	\N	EFO	3	EFO	Rare genetic skin disease	Erythropoietic uroporphyria associated with myeloid malignancy
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:280379	"" []	1155970	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Erythropoietic uroporphyria associated with myeloid malignancy
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:280379	"" []	1155971	\N	\N	EFO	3	EFO	Rare genetic skin disease	Erythropoietic uroporphyria associated with myeloid malignancy
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:280379	"" []	1155972	\N	\N	EFO	3	EFO	Rare genetic renal disease	Erythropoietic uroporphyria associated with myeloid malignancy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280379	"" []	2038845	\N	\N	EFO	4	EFO	genetic disorder	Erythropoietic uroporphyria associated with myeloid malignancy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:280379	"" []	2038846	\N	\N	EFO	4	EFO	skin disease	Erythropoietic uroporphyria associated with myeloid malignancy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280379	"" []	2038847	\N	\N	EFO	4	EFO	genetic disorder	Erythropoietic uroporphyria associated with myeloid malignancy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:280379	"" []	2038848	\N	\N	EFO	4	EFO	metabolic disease	Erythropoietic uroporphyria associated with myeloid malignancy
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280379	"" []	2038849	\N	\N	EFO	4	EFO	genetic disorder	Erythropoietic uroporphyria associated with myeloid malignancy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280379	"" []	3189107	\N	\N	EFO	5	EFO	disease	Erythropoietic uroporphyria associated with myeloid malignancy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280379	"" []	3189108	\N	\N	EFO	5	EFO	disease	Erythropoietic uroporphyria associated with myeloid malignancy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280379	"" []	3189109	\N	\N	EFO	5	EFO	disease	Erythropoietic uroporphyria associated with myeloid malignancy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280379	"" []	4396092	\N	\N	EFO	6	EFO	disposition	Erythropoietic uroporphyria associated with myeloid malignancy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280379	"" []	5413872	\N	\N	EFO	7	EFO	material property	Erythropoietic uroporphyria associated with myeloid malignancy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280379	"" []	6150302	\N	\N	EFO	8	EFO	experimental factor	Erythropoietic uroporphyria associated with myeloid malignancy
Orphanet:280384	\N	\N	"" []	Orphanet:280384	"" []	75686	\N	\N	EFO	0	EFO	Recessive intellectual disability - motor dysfunction - multiple joint contractures	Recessive intellectual disability - motor dysfunction - multiple joint contractures
Orphanet:183763	Orphanet:280384	\N	"" []	Orphanet:280384	"" []	218344	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Recessive intellectual disability - motor dysfunction - multiple joint contractures
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:280384	"" []	573408	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Recessive intellectual disability - motor dysfunction - multiple joint contractures
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:280384	"" []	1155973	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Recessive intellectual disability - motor dysfunction - multiple joint contractures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280384	"" []	2038850	\N	\N	EFO	4	EFO	genetic disorder	Recessive intellectual disability - motor dysfunction - multiple joint contractures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280384	"" []	3189110	\N	\N	EFO	5	EFO	disease	Recessive intellectual disability - motor dysfunction - multiple joint contractures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280384	"" []	4396093	\N	\N	EFO	6	EFO	disposition	Recessive intellectual disability - motor dysfunction - multiple joint contractures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280384	"" []	5413873	\N	\N	EFO	7	EFO	material property	Recessive intellectual disability - motor dysfunction - multiple joint contractures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280384	"" []	6150303	\N	\N	EFO	8	EFO	experimental factor	Recessive intellectual disability - motor dysfunction - multiple joint contractures
Orphanet:2804	\N	\N	"" []	Orphanet:2804	"" []	75687	\N	\N	EFO	0	EFO	W syndrome	W syndrome
Orphanet:102283	Orphanet:2804	\N	"" []	Orphanet:2804	"" []	218345	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	W syndrome
Orphanet:139039	Orphanet:2804	\N	"" []	Orphanet:2804	"" []	218346	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	W syndrome
Orphanet:166463	Orphanet:2804	\N	"" []	Orphanet:2804	"" []	218347	\N	\N	EFO	1	EFO	Epilepsy syndrome	W syndrome
Orphanet:98464	Orphanet:2804	\N	"" []	Orphanet:2804	"" []	218348	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	W syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2804	"" []	573409	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	W syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2804	"" []	573410	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	W syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:2804	"" []	573411	\N	\N	EFO	2	EFO	Rare genetic epilepsy	W syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2804	"" []	573412	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	W syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2804	"" []	1155974	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	W syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2804	"" []	1155975	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	W syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2804	"" []	1155976	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	W syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2804	"" []	1155977	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	W syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2804	"" []	4396095	\N	\N	EFO	6	EFO	genetic disorder	W syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2804	"" []	2038852	\N	\N	EFO	4	EFO	Genetic head and neck malformation	W syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2804	"" []	3189113	\N	\N	EFO	5	EFO	genetic disorder	W syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2804	"" []	2038854	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	W syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2804	"" []	5059894	\N	\N	EFO	7	EFO	disease	W syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2804	"" []	3189112	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	W syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2804	"" []	5877198	\N	\N	EFO	8	EFO	disposition	W syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2804	"" []	6470429	\N	\N	EFO	9	EFO	material property	W syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2804	"" []	6848523	\N	\N	EFO	10	EFO	experimental factor	W syndrome
Orphanet:280403	\N	\N	"" []	Orphanet:280403	"" []	75688	\N	\N	EFO	0	EFO	Familial omphalocele syndrome with facial dysmorphism	Familial omphalocele syndrome with facial dysmorphism
Orphanet:183530	Orphanet:280403	\N	"" []	Orphanet:280403	"" []	218349	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Familial omphalocele syndrome with facial dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280403	"" []	573413	\N	\N	EFO	2	EFO	genetic disorder	Familial omphalocele syndrome with facial dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280403	"" []	1155978	\N	\N	EFO	3	EFO	disease	Familial omphalocele syndrome with facial dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280403	"" []	2038855	\N	\N	EFO	4	EFO	disposition	Familial omphalocele syndrome with facial dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280403	"" []	3189114	\N	\N	EFO	5	EFO	material property	Familial omphalocele syndrome with facial dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280403	"" []	4396096	\N	\N	EFO	6	EFO	experimental factor	Familial omphalocele syndrome with facial dysmorphism
Orphanet:280406	\N	\N	"" []	Orphanet:280406	"" []	75689	\N	\N	EFO	0	EFO	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Orphanet:102373	Orphanet:280406	\N	"" []	Orphanet:280406	"" []	218350	\N	\N	EFO	1	EFO	Primary glomerular disease	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Orphanet:90642	Orphanet:280406	\N	"" []	Orphanet:280406	"" []	218351	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:280406	"" []	573414	\N	\N	EFO	2	EFO	Genetic glomerular disease	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:280406	"" []	573415	\N	\N	EFO	2	EFO	Rare genetic deafness	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:280406	"" []	1155979	\N	\N	EFO	3	EFO	Rare genetic renal disease	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280406	"" []	1155980	\N	\N	EFO	3	EFO	genetic disorder	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:280406	"" []	1155981	\N	\N	EFO	3	EFO	auditory system disease	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280406	"" []	2038856	\N	\N	EFO	4	EFO	genetic disorder	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280406	"" []	3189115	\N	\N	EFO	5	EFO	disease	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:280406	"" []	2038858	\N	\N	EFO	4	EFO	sensory system disease	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280406	"" []	5413876	\N	\N	EFO	7	EFO	disposition	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280406	"" []	3189117	\N	\N	EFO	5	EFO	nervous system disease	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280406	"" []	5877199	\N	\N	EFO	8	EFO	material property	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280406	"" []	4396098	\N	\N	EFO	6	EFO	disease	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280406	"" []	6470430	\N	\N	EFO	9	EFO	experimental factor	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Orphanet:2805	\N	\N	"" []	Orphanet:2805	"" []	75690	\N	\N	EFO	0	EFO	Partial pancreatic agenesis	Partial pancreatic agenesis
Orphanet:108971	Orphanet:2805	\N	"" []	Orphanet:2805	"" []	218352	\N	\N	EFO	1	EFO	Non-syndromic visceral malformation	Partial pancreatic agenesis
Orphanet:183548	Orphanet:108971	\N	"" []	Orphanet:2805	"" []	573416	\N	\N	EFO	2	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Partial pancreatic agenesis
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:2805	"" []	1155982	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Partial pancreatic agenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2805	"" []	2038859	\N	\N	EFO	4	EFO	genetic disorder	Partial pancreatic agenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2805	"" []	3189118	\N	\N	EFO	5	EFO	disease	Partial pancreatic agenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2805	"" []	4396099	\N	\N	EFO	6	EFO	disposition	Partial pancreatic agenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2805	"" []	5413877	\N	\N	EFO	7	EFO	material property	Partial pancreatic agenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2805	"" []	6150305	\N	\N	EFO	8	EFO	experimental factor	Partial pancreatic agenesis
Orphanet:280553	\N	\N	"" []	Orphanet:280553	"" []	75691	\N	\N	EFO	0	EFO	Fatal infantile hypertonic myofibrillar myopathy	Fatal infantile hypertonic myofibrillar myopathy
Orphanet:98910	Orphanet:280553	\N	"" []	Orphanet:280553	"" []	218353	\N	\N	EFO	1	EFO	Alpha-crystallinopathy	Fatal infantile hypertonic myofibrillar myopathy
Orphanet:209044	Orphanet:98910	\N	"" []	Orphanet:280553	"" []	573417	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of alphaB-cristallin	Fatal infantile hypertonic myofibrillar myopathy
Orphanet:593	Orphanet:98910	\N	"" []	Orphanet:280553	"" []	573418	\N	\N	EFO	2	EFO	Myofibrillar myopathy	Fatal infantile hypertonic myofibrillar myopathy
Orphanet:209038	Orphanet:209044	\N	"" []	Orphanet:280553	"" []	1155983	\N	\N	EFO	3	EFO	Qualitative or quantitative defects of myofibrillar proteins	Fatal infantile hypertonic myofibrillar myopathy
Orphanet:206656	Orphanet:593	\N	"" []	Orphanet:280553	"" []	1155984	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Fatal infantile hypertonic myofibrillar myopathy
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:280553	"" []	2038860	\N	\N	EFO	4	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Fatal infantile hypertonic myofibrillar myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:280553	"" []	2038861	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Fatal infantile hypertonic myofibrillar myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:280553	"" []	3189119	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Fatal infantile hypertonic myofibrillar myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:280553	"" []	3189120	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Fatal infantile hypertonic myofibrillar myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:280553	"" []	4396100	\N	\N	EFO	6	EFO	muscular disease	Fatal infantile hypertonic myofibrillar myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:280553	"" []	4396101	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Fatal infantile hypertonic myofibrillar myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:280553	"" []	5413878	\N	\N	EFO	7	EFO	skeletal system disease	Fatal infantile hypertonic myofibrillar myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280553	"" []	5413879	\N	\N	EFO	7	EFO	genetic disorder	Fatal infantile hypertonic myofibrillar myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280553	"" []	6150306	\N	\N	EFO	8	EFO	disease	Fatal infantile hypertonic myofibrillar myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280553	"" []	6150307	\N	\N	EFO	8	EFO	disease	Fatal infantile hypertonic myofibrillar myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280553	"" []	6633103	\N	\N	EFO	9	EFO	disposition	Fatal infantile hypertonic myofibrillar myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280553	"" []	6925838	\N	\N	EFO	10	EFO	material property	Fatal infantile hypertonic myofibrillar myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280553	"" []	7099168	\N	\N	EFO	11	EFO	experimental factor	Fatal infantile hypertonic myofibrillar myopathy
Orphanet:280558	\N	\N	"" []	Orphanet:280558	"" []	75692	\N	\N	EFO	0	EFO	Warsaw breakage syndrome	Warsaw breakage syndrome
Orphanet:183422	Orphanet:280558	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:280558	"" []	218354	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Warsaw breakage syndrome
Orphanet:330206	Orphanet:280558	\N	"" []	Orphanet:280558	"" []	218355	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Warsaw breakage syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:280558	"" []	573419	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Warsaw breakage syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:280558	"" []	573420	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Warsaw breakage syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280558	"" []	1155985	\N	\N	EFO	3	EFO	genetic disorder	Warsaw breakage syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:280558	"" []	1155986	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Warsaw breakage syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280558	"" []	3189122	\N	\N	EFO	5	EFO	disease	Warsaw breakage syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280558	"" []	2038863	\N	\N	EFO	4	EFO	genetic disorder	Warsaw breakage syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280558	"" []	4133757	\N	\N	EFO	6	EFO	disposition	Warsaw breakage syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280558	"" []	5182387	\N	\N	EFO	7	EFO	material property	Warsaw breakage syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280558	"" []	5997732	\N	\N	EFO	8	EFO	experimental factor	Warsaw breakage syndrome
Orphanet:280569	\N	\N	"" []	Orphanet:280569	"" []	75693	\N	\N	EFO	0	EFO	Rapidly progressive glomerulonephritis	Rapidly progressive glomerulonephritis
Orphanet:102373	Orphanet:280569	\N	"" []	Orphanet:280569	"" []	218356	\N	\N	EFO	1	EFO	Primary glomerular disease	Rapidly progressive glomerulonephritis
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:280569	"" []	573421	\N	\N	EFO	2	EFO	Genetic glomerular disease	Rapidly progressive glomerulonephritis
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:280569	"" []	1155987	\N	\N	EFO	3	EFO	Rare genetic renal disease	Rapidly progressive glomerulonephritis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280569	"" []	2038864	\N	\N	EFO	4	EFO	genetic disorder	Rapidly progressive glomerulonephritis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280569	"" []	3189123	\N	\N	EFO	5	EFO	disease	Rapidly progressive glomerulonephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280569	"" []	4396103	\N	\N	EFO	6	EFO	disposition	Rapidly progressive glomerulonephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280569	"" []	5413881	\N	\N	EFO	7	EFO	material property	Rapidly progressive glomerulonephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280569	"" []	6150308	\N	\N	EFO	8	EFO	experimental factor	Rapidly progressive glomerulonephritis
Orphanet:280576	\N	\N	"" []	Orphanet:280576	"" []	75694	\N	\N	EFO	0	EFO	Nestor-Guillermo progeria syndrome	Nestor-Guillermo progeria syndrome
Orphanet:363245	Orphanet:280576	\N	"" []	Orphanet:280576	"" []	218357	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Nestor-Guillermo progeria syndrome
Orphanet:79389	Orphanet:280576	\N	"" []	Orphanet:280576	"" []	218358	\N	\N	EFO	1	EFO	Premature aging	Nestor-Guillermo progeria syndrome
Orphanet:93449	Orphanet:280576	\N	"" []	Orphanet:280576	"" []	218359	\N	\N	EFO	1	EFO	Primary osteolysis	Nestor-Guillermo progeria syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:280576	"" []	573422	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Nestor-Guillermo progeria syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:280576	"" []	573423	\N	\N	EFO	2	EFO	Rare genetic skin disease	Nestor-Guillermo progeria syndrome
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:280576	"" []	573424	\N	\N	EFO	2	EFO	Primary bone dysplasia	Nestor-Guillermo progeria syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280576	"" []	3189127	\N	\N	EFO	5	EFO	genetic disorder	Nestor-Guillermo progeria syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280576	"" []	1155989	\N	\N	EFO	3	EFO	genetic disorder	Nestor-Guillermo progeria syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:280576	"" []	1155990	\N	\N	EFO	3	EFO	skin disease	Nestor-Guillermo progeria syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:280576	"" []	1155991	\N	\N	EFO	3	EFO	Rare genetic bone disease	Nestor-Guillermo progeria syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:280576	"" []	1155992	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Nestor-Guillermo progeria syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280576	"" []	4066910	\N	\N	EFO	6	EFO	disease	Nestor-Guillermo progeria syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280576	"" []	2038866	\N	\N	EFO	4	EFO	disease	Nestor-Guillermo progeria syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280576	"" []	2038867	\N	\N	EFO	4	EFO	genetic disorder	Nestor-Guillermo progeria syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:280576	"" []	2038868	\N	\N	EFO	4	EFO	bone disease	Nestor-Guillermo progeria syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:280576	"" []	2038869	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Nestor-Guillermo progeria syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280576	"" []	5059895	\N	\N	EFO	7	EFO	disposition	Nestor-Guillermo progeria syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:280576	"" []	3189126	\N	\N	EFO	5	EFO	skeletal system disease	Nestor-Guillermo progeria syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280576	"" []	5877200	\N	\N	EFO	8	EFO	material property	Nestor-Guillermo progeria syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280576	"" []	4396105	\N	\N	EFO	6	EFO	disease	Nestor-Guillermo progeria syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280576	"" []	6470431	\N	\N	EFO	9	EFO	experimental factor	Nestor-Guillermo progeria syndrome
Orphanet:280586	\N	\N	"" []	Orphanet:280586	"" []	75695	\N	\N	EFO	0	EFO	Chondrodysplasia with joint dislocations, gPAPP type	Chondrodysplasia with joint dislocations, gPAPP type
Orphanet:93441	Orphanet:280586	\N	"" []	Orphanet:280586	"" []	218360	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Chondrodysplasia with joint dislocations, gPAPP type
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:280586	"" []	573425	\N	\N	EFO	2	EFO	Primary bone dysplasia	Chondrodysplasia with joint dislocations, gPAPP type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:280586	"" []	1155993	\N	\N	EFO	3	EFO	Rare genetic bone disease	Chondrodysplasia with joint dislocations, gPAPP type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:280586	"" []	1155994	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Chondrodysplasia with joint dislocations, gPAPP type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280586	"" []	2038870	\N	\N	EFO	4	EFO	genetic disorder	Chondrodysplasia with joint dislocations, gPAPP type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:280586	"" []	2038871	\N	\N	EFO	4	EFO	bone disease	Chondrodysplasia with joint dislocations, gPAPP type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:280586	"" []	2038872	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Chondrodysplasia with joint dislocations, gPAPP type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280586	"" []	4396108	\N	\N	EFO	6	EFO	disease	Chondrodysplasia with joint dislocations, gPAPP type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:280586	"" []	3189129	\N	\N	EFO	5	EFO	skeletal system disease	Chondrodysplasia with joint dislocations, gPAPP type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280586	"" []	3189130	\N	\N	EFO	5	EFO	genetic disorder	Chondrodysplasia with joint dislocations, gPAPP type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280586	"" []	5182389	\N	\N	EFO	7	EFO	disposition	Chondrodysplasia with joint dislocations, gPAPP type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280586	"" []	4396107	\N	\N	EFO	6	EFO	disease	Chondrodysplasia with joint dislocations, gPAPP type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280586	"" []	5997734	\N	\N	EFO	8	EFO	material property	Chondrodysplasia with joint dislocations, gPAPP type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280586	"" []	6551059	\N	\N	EFO	9	EFO	experimental factor	Chondrodysplasia with joint dislocations, gPAPP type
Orphanet:280598	\N	\N	"" []	Orphanet:280598	"" []	75696	\N	\N	EFO	0	EFO	Hereditary sensorimotor neuropathy with hyperelastic skin	Hereditary sensorimotor neuropathy with hyperelastic skin
Orphanet:140450	Orphanet:280598	\N	"" []	Orphanet:280598	"" []	218361	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	Hereditary sensorimotor neuropathy with hyperelastic skin
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:280598	"" []	573426	\N	\N	EFO	2	EFO	motor neuron disease	Hereditary sensorimotor neuropathy with hyperelastic skin
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:280598	"" []	573427	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Hereditary sensorimotor neuropathy with hyperelastic skin
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:280598	"" []	1155995	\N	\N	EFO	3	EFO	neurodegenerative disease	Hereditary sensorimotor neuropathy with hyperelastic skin
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:280598	"" []	1155996	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary sensorimotor neuropathy with hyperelastic skin
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280598	"" []	2038873	\N	\N	EFO	4	EFO	nervous system disease	Hereditary sensorimotor neuropathy with hyperelastic skin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280598	"" []	2038874	\N	\N	EFO	4	EFO	genetic disorder	Hereditary sensorimotor neuropathy with hyperelastic skin
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280598	"" []	3189131	\N	\N	EFO	5	EFO	disease	Hereditary sensorimotor neuropathy with hyperelastic skin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280598	"" []	3189132	\N	\N	EFO	5	EFO	disease	Hereditary sensorimotor neuropathy with hyperelastic skin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280598	"" []	4396109	\N	\N	EFO	6	EFO	disposition	Hereditary sensorimotor neuropathy with hyperelastic skin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280598	"" []	5413884	\N	\N	EFO	7	EFO	material property	Hereditary sensorimotor neuropathy with hyperelastic skin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280598	"" []	6150310	\N	\N	EFO	8	EFO	experimental factor	Hereditary sensorimotor neuropathy with hyperelastic skin
Orphanet:280615	\N	\N	"" []	Orphanet:280615	"" []	75697	\N	\N	EFO	0	EFO	Hemoglobinopathy Toms River	Hemoglobinopathy Toms River
Orphanet:68364	Orphanet:280615	\N	"" []	Orphanet:280615	"" []	218362	\N	\N	EFO	1	EFO	Hemoglobinopathy	Hemoglobinopathy Toms River
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:280615	"" []	573428	\N	\N	EFO	2	EFO	Rare constitutional anemia	Hemoglobinopathy Toms River
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:280615	"" []	1155997	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Hemoglobinopathy Toms River
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280615	"" []	2038875	\N	\N	EFO	4	EFO	genetic disorder	Hemoglobinopathy Toms River
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:280615	"" []	2038876	\N	\N	EFO	4	EFO	hematological system disease	Hemoglobinopathy Toms River
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280615	"" []	3189133	\N	\N	EFO	5	EFO	disease	Hemoglobinopathy Toms River
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280615	"" []	3189134	\N	\N	EFO	5	EFO	disease	Hemoglobinopathy Toms River
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280615	"" []	4396110	\N	\N	EFO	6	EFO	disposition	Hemoglobinopathy Toms River
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280615	"" []	5413885	\N	\N	EFO	7	EFO	material property	Hemoglobinopathy Toms River
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280615	"" []	6150311	\N	\N	EFO	8	EFO	experimental factor	Hemoglobinopathy Toms River
Orphanet:280620	\N	\N	"" []	Orphanet:280620	"" []	75698	\N	\N	EFO	0	EFO	Progressive myoclonic epilepsy type 6	Progressive myoclonic epilepsy type 6
Orphanet:98261	Orphanet:280620	\N	"" []	Orphanet:280620	"" []	218363	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Progressive myoclonic epilepsy type 6
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:280620	"" []	573429	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Progressive myoclonic epilepsy type 6
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:280620	"" []	573430	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Progressive myoclonic epilepsy type 6
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:280620	"" []	1155998	\N	\N	EFO	3	EFO	Epilepsy syndrome	Progressive myoclonic epilepsy type 6
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:280620	"" []	1155999	\N	\N	EFO	3	EFO	Epilepsy syndrome	Progressive myoclonic epilepsy type 6
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:280620	"" []	2038877	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Progressive myoclonic epilepsy type 6
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:280620	"" []	3189135	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Progressive myoclonic epilepsy type 6
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280620	"" []	4396111	\N	\N	EFO	6	EFO	genetic disorder	Progressive myoclonic epilepsy type 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280620	"" []	5413886	\N	\N	EFO	7	EFO	disease	Progressive myoclonic epilepsy type 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280620	"" []	6150312	\N	\N	EFO	8	EFO	disposition	Progressive myoclonic epilepsy type 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280620	"" []	6633104	\N	\N	EFO	9	EFO	material property	Progressive myoclonic epilepsy type 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280620	"" []	6925839	\N	\N	EFO	10	EFO	experimental factor	Progressive myoclonic epilepsy type 6
Orphanet:280628	\N	\N	"" []	Orphanet:280628	"" []	75699	\N	\N	EFO	0	EFO	Familial progressive hyper- and hypopigmentation	Familial progressive hyper- and hypopigmentation
Orphanet:183463	Orphanet:280628	\N	"" []	Orphanet:280628	"" []	218364	\N	\N	EFO	1	EFO	Genetic pigmentation anomaly of the skin	Familial progressive hyper- and hypopigmentation
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:280628	"" []	573431	\N	\N	EFO	2	EFO	Rare genetic skin disease	Familial progressive hyper- and hypopigmentation
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280628	"" []	1156000	\N	\N	EFO	3	EFO	genetic disorder	Familial progressive hyper- and hypopigmentation
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:280628	"" []	1156001	\N	\N	EFO	3	EFO	skin disease	Familial progressive hyper- and hypopigmentation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280628	"" []	2038878	\N	\N	EFO	4	EFO	disease	Familial progressive hyper- and hypopigmentation
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280628	"" []	2038879	\N	\N	EFO	4	EFO	disease	Familial progressive hyper- and hypopigmentation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280628	"" []	3189136	\N	\N	EFO	5	EFO	disposition	Familial progressive hyper- and hypopigmentation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280628	"" []	4396112	\N	\N	EFO	6	EFO	material property	Familial progressive hyper- and hypopigmentation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280628	"" []	5413887	\N	\N	EFO	7	EFO	experimental factor	Familial progressive hyper- and hypopigmentation
Orphanet:280633	\N	\N	"" []	Orphanet:280633	"" []	75700	\N	\N	EFO	0	EFO	Multiple congenital anomalies - hypotonia - seizures syndrome	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:102283	Orphanet:280633	\N	"" []	Orphanet:280633	"" []	218365	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:309515	Orphanet:280633	\N	"" []	Orphanet:280633	"" []	218366	\N	\N	EFO	1	EFO	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:371064	Orphanet:280633	\N	"" []	Orphanet:280633	"" []	218367	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:371071	Orphanet:280633	\N	"" []	Orphanet:280633	"" []	218368	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:371235	Orphanet:280633	\N	"" []	Orphanet:280633	"" []	218369	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with developmental anomaly	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:280633	"" []	573432	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:137	Orphanet:309515	\N	"" []	Orphanet:280633	"" []	573433	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:280633	"" []	573434	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:280633	"" []	573435	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:280633	"" []	573436	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:280633	"" []	573437	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:280633	"" []	1156002	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:280633	"" []	1156003	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:280633	"" []	1156004	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:280633	"" []	1156005	\N	\N	EFO	3	EFO	Neurometabolic disease	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:280633	"" []	1156006	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Multiple congenital anomalies - hypotonia - seizures syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280633	"" []	2038880	\N	\N	EFO	4	EFO	genetic disorder	Multiple congenital anomalies - hypotonia - seizures syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280633	"" []	2038881	\N	\N	EFO	4	EFO	genetic disorder	Multiple congenital anomalies - hypotonia - seizures syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:280633	"" []	2038882	\N	\N	EFO	4	EFO	metabolic disease	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:280633	"" []	2038883	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:280633	"" []	2038884	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Multiple congenital anomalies - hypotonia - seizures syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280633	"" []	5182391	\N	\N	EFO	7	EFO	disease	Multiple congenital anomalies - hypotonia - seizures syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280633	"" []	3189138	\N	\N	EFO	5	EFO	disease	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:280633	"" []	3189139	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Multiple congenital anomalies - hypotonia - seizures syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280633	"" []	4396114	\N	\N	EFO	6	EFO	genetic disorder	Multiple congenital anomalies - hypotonia - seizures syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280633	"" []	5877201	\N	\N	EFO	8	EFO	disposition	Multiple congenital anomalies - hypotonia - seizures syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280633	"" []	6470432	\N	\N	EFO	9	EFO	material property	Multiple congenital anomalies - hypotonia - seizures syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280633	"" []	6848524	\N	\N	EFO	10	EFO	experimental factor	Multiple congenital anomalies - hypotonia - seizures syndrome
Orphanet:280640	\N	\N	"" []	Orphanet:280640	"" []	75701	\N	\N	EFO	0	EFO	Occipital pachygyria and polymicrogyria	Occipital pachygyria and polymicrogyria
Orphanet:163209	Orphanet:280640	\N	"" []	Orphanet:280640	"" []	218370	\N	\N	EFO	1	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Occipital pachygyria and polymicrogyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:280640	"" []	573438	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Occipital pachygyria and polymicrogyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:280640	"" []	573439	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Occipital pachygyria and polymicrogyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:280640	"" []	1156007	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Occipital pachygyria and polymicrogyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:280640	"" []	1156008	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Occipital pachygyria and polymicrogyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:280640	"" []	2038885	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Occipital pachygyria and polymicrogyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:280640	"" []	2038886	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Occipital pachygyria and polymicrogyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280640	"" []	4396118	\N	\N	EFO	6	EFO	genetic disorder	Occipital pachygyria and polymicrogyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:280640	"" []	3189142	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Occipital pachygyria and polymicrogyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:280640	"" []	3189143	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Occipital pachygyria and polymicrogyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280640	"" []	5182392	\N	\N	EFO	7	EFO	disease	Occipital pachygyria and polymicrogyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280640	"" []	4396117	\N	\N	EFO	6	EFO	genetic disorder	Occipital pachygyria and polymicrogyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280640	"" []	5997736	\N	\N	EFO	8	EFO	disposition	Occipital pachygyria and polymicrogyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280640	"" []	6551061	\N	\N	EFO	9	EFO	material property	Occipital pachygyria and polymicrogyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280640	"" []	6889216	\N	\N	EFO	10	EFO	experimental factor	Occipital pachygyria and polymicrogyria
Orphanet:280651	\N	\N	"" []	Orphanet:280651	"" []	75702	\N	\N	EFO	0	EFO	Acrodysostosis with multiple hormone resistance	Acrodysostosis with multiple hormone resistance
Orphanet:155899	Orphanet:280651	\N	"" []	Orphanet:280651	"" []	218371	\N	\N	EFO	1	EFO	Mandibulofacial dysostosis	Acrodysostosis with multiple hormone resistance
Orphanet:183643	Orphanet:280651	\N	"" []	Orphanet:280651	"" []	218372	\N	\N	EFO	1	EFO	Genetic polyendocrinopathy	Acrodysostosis with multiple hormone resistance
Orphanet:364574	Orphanet:280651	\N	"" []	Orphanet:280651	"" []	218373	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Acrodysostosis with multiple hormone resistance
Orphanet:155896	Orphanet:155899	\N	"" []	Orphanet:280651	"" []	573440	\N	\N	EFO	2	EFO	Otomandibular dysplasia	Acrodysostosis with multiple hormone resistance
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:280651	"" []	573441	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Acrodysostosis with multiple hormone resistance
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:280651	"" []	573442	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Acrodysostosis with multiple hormone resistance
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:280651	"" []	573443	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Acrodysostosis with multiple hormone resistance
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:280651	"" []	1156009	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Acrodysostosis with multiple hormone resistance
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280651	"" []	1156010	\N	\N	EFO	3	EFO	genetic disorder	Acrodysostosis with multiple hormone resistance
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:280651	"" []	1156011	\N	\N	EFO	3	EFO	endocrine system disease	Acrodysostosis with multiple hormone resistance
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:280651	"" []	1156012	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrodysostosis with multiple hormone resistance
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:280651	"" []	1156013	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrodysostosis with multiple hormone resistance
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:280651	"" []	1156014	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Acrodysostosis with multiple hormone resistance
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:280651	"" []	2038887	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Acrodysostosis with multiple hormone resistance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280651	"" []	5997737	\N	\N	EFO	8	EFO	disease	Acrodysostosis with multiple hormone resistance
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280651	"" []	2038889	\N	\N	EFO	4	EFO	disease	Acrodysostosis with multiple hormone resistance
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:280651	"" []	2038890	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Acrodysostosis with multiple hormone resistance
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:280651	"" []	2038891	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Acrodysostosis with multiple hormone resistance
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:280651	"" []	3189144	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrodysostosis with multiple hormone resistance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280651	"" []	6378915	\N	\N	EFO	9	EFO	disposition	Acrodysostosis with multiple hormone resistance
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:280651	"" []	3189146	\N	\N	EFO	5	EFO	Rare genetic bone disease	Acrodysostosis with multiple hormone resistance
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:280651	"" []	3189147	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Acrodysostosis with multiple hormone resistance
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:280651	"" []	3189148	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrodysostosis with multiple hormone resistance
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280651	"" []	5413893	\N	\N	EFO	7	EFO	genetic disorder	Acrodysostosis with multiple hormone resistance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280651	"" []	6778718	\N	\N	EFO	10	EFO	material property	Acrodysostosis with multiple hormone resistance
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280651	"" []	4396121	\N	\N	EFO	6	EFO	genetic disorder	Acrodysostosis with multiple hormone resistance
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:280651	"" []	4396122	\N	\N	EFO	6	EFO	bone disease	Acrodysostosis with multiple hormone resistance
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:280651	"" []	4396123	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acrodysostosis with multiple hormone resistance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280651	"" []	7029911	\N	\N	EFO	11	EFO	experimental factor	Acrodysostosis with multiple hormone resistance
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:280651	"" []	5413892	\N	\N	EFO	7	EFO	skeletal system disease	Acrodysostosis with multiple hormone resistance
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280651	"" []	6150315	\N	\N	EFO	8	EFO	disease	Acrodysostosis with multiple hormone resistance
Orphanet:280654	\N	\N	"" []	Orphanet:280654	"" []	75703	\N	\N	EFO	0	EFO	Autosomal recessive nail dysplasia	Autosomal recessive nail dysplasia
Orphanet:79369	Orphanet:280654	\N	"" []	Orphanet:280654	"" []	218374	\N	\N	EFO	1	EFO	Isolated nail anomaly	Autosomal recessive nail dysplasia
Orphanet:183454	Orphanet:79369	\N	"" []	Orphanet:280654	"" []	573444	\N	\N	EFO	2	EFO	Genetic nail anomaly	Autosomal recessive nail dysplasia
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:280654	"" []	1156015	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Autosomal recessive nail dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:280654	"" []	2038892	\N	\N	EFO	4	EFO	Rare genetic skin disease	Autosomal recessive nail dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280654	"" []	3189149	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive nail dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:280654	"" []	3189150	\N	\N	EFO	5	EFO	skin disease	Autosomal recessive nail dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280654	"" []	4396124	\N	\N	EFO	6	EFO	disease	Autosomal recessive nail dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280654	"" []	4396125	\N	\N	EFO	6	EFO	disease	Autosomal recessive nail dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280654	"" []	5413894	\N	\N	EFO	7	EFO	disposition	Autosomal recessive nail dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280654	"" []	6150316	\N	\N	EFO	8	EFO	material property	Autosomal recessive nail dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280654	"" []	6633106	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive nail dysplasia
Orphanet:280663	\N	\N	"" []	Orphanet:280663	"" []	75704	\N	\N	EFO	0	EFO	Hermansky-Pudlak syndrome type 9	Hermansky-Pudlak syndrome type 9
Orphanet:79430	Orphanet:280663	\N	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	Orphanet:280663	"" []	218375	\N	\N	EFO	1	EFO	Hermansky-Pudlak syndrome	Hermansky-Pudlak syndrome type 9
Orphanet:284811	Orphanet:79430	\N	"" []	Orphanet:280663	"" []	573445	\N	\N	EFO	2	EFO	Syndromic oculocutaneous albinism	Hermansky-Pudlak syndrome type 9
Orphanet:309340	Orphanet:79430	\N	"" []	Orphanet:280663	"" []	573446	\N	\N	EFO	2	EFO	Disorder of lysosomal-related organelles	Hermansky-Pudlak syndrome type 9
Orphanet:98456	Orphanet:79430	\N	"" []	Orphanet:280663	"" []	573447	\N	\N	EFO	2	EFO	Dense granule disease	Hermansky-Pudlak syndrome type 9
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:280663	"" []	1156016	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Hermansky-Pudlak syndrome type 9
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:280663	"" []	1156017	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Hermansky-Pudlak syndrome type 9
Orphanet:68367	Orphanet:309340	\N	"" []	Orphanet:280663	"" []	1156018	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hermansky-Pudlak syndrome type 9
Orphanet:98454	Orphanet:98456	\N	"" []	Orphanet:280663	"" []	1156019	\N	\N	EFO	3	EFO	Platelet storage pool disease	Hermansky-Pudlak syndrome type 9
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:280663	"" []	2038893	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Hermansky-Pudlak syndrome type 9
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:280663	"" []	2038894	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Hermansky-Pudlak syndrome type 9
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280663	"" []	2038895	\N	\N	EFO	4	EFO	genetic disorder	Hermansky-Pudlak syndrome type 9
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:280663	"" []	2038896	\N	\N	EFO	4	EFO	metabolic disease	Hermansky-Pudlak syndrome type 9
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:280663	"" []	2038897	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Hermansky-Pudlak syndrome type 9
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:280663	"" []	3189151	\N	\N	EFO	5	EFO	Rare genetic skin disease	Hermansky-Pudlak syndrome type 9
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:280663	"" []	3189152	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Hermansky-Pudlak syndrome type 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280663	"" []	6633107	\N	\N	EFO	9	EFO	disease	Hermansky-Pudlak syndrome type 9
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280663	"" []	3189154	\N	\N	EFO	5	EFO	disease	Hermansky-Pudlak syndrome type 9
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:280663	"" []	3189155	\N	\N	EFO	5	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Hermansky-Pudlak syndrome type 9
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280663	"" []	4396126	\N	\N	EFO	6	EFO	genetic disorder	Hermansky-Pudlak syndrome type 9
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:280663	"" []	4396127	\N	\N	EFO	6	EFO	skin disease	Hermansky-Pudlak syndrome type 9
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:280663	"" []	4396128	\N	\N	EFO	6	EFO	Rare genetic eye disease	Hermansky-Pudlak syndrome type 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280663	"" []	6778719	\N	\N	EFO	10	EFO	disposition	Hermansky-Pudlak syndrome type 9
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:280663	"" []	4396130	\N	\N	EFO	6	EFO	Rare genetic coagulation disorder	Hermansky-Pudlak syndrome type 9
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280663	"" []	5413896	\N	\N	EFO	7	EFO	disease	Hermansky-Pudlak syndrome type 9
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280663	"" []	5413897	\N	\N	EFO	7	EFO	genetic disorder	Hermansky-Pudlak syndrome type 9
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:280663	"" []	5413898	\N	\N	EFO	7	EFO	eye disease	Hermansky-Pudlak syndrome type 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280663	"" []	7029912	\N	\N	EFO	11	EFO	material property	Hermansky-Pudlak syndrome type 9
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:280663	"" []	5413900	\N	\N	EFO	7	EFO	Rare genetic hematologic disease	Hermansky-Pudlak syndrome type 9
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280663	"" []	6150318	\N	\N	EFO	8	EFO	disease	Hermansky-Pudlak syndrome type 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280663	"" []	7181780	\N	\N	EFO	12	EFO	experimental factor	Hermansky-Pudlak syndrome type 9
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280663	"" []	6150320	\N	\N	EFO	8	EFO	genetic disorder	Hermansky-Pudlak syndrome type 9
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:280663	"" []	6150321	\N	\N	EFO	8	EFO	hematological system disease	Hermansky-Pudlak syndrome type 9
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280663	"" []	6633108	\N	\N	EFO	9	EFO	disease	Hermansky-Pudlak syndrome type 9
Orphanet:280671	\N	\N	"" []	Orphanet:280671	"" []	75705	\N	\N	EFO	0	EFO	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Orphanet:352312	Orphanet:280671	\N	"" []	Orphanet:280671	"" []	218376	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Orphanet:97242	Orphanet:280671	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:280671	"" []	218377	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Orphanet:352301	Orphanet:352312	\N	"" []	Orphanet:280671	"" []	573448	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:280671	"" []	573449	\N	\N	EFO	2	EFO	Muscular dystrophy	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:280671	"" []	1156020	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:280671	"" []	1156021	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:280671	"" []	2038898	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:280671	"" []	2038899	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280671	"" []	3189156	\N	\N	EFO	5	EFO	genetic disorder	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:280671	"" []	3189157	\N	\N	EFO	5	EFO	metabolic disease	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:280671	"" []	3189158	\N	\N	EFO	5	EFO	muscular disease	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:280671	"" []	3189159	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280671	"" []	5413903	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280671	"" []	4396132	\N	\N	EFO	6	EFO	disease	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:280671	"" []	4396133	\N	\N	EFO	6	EFO	skeletal system disease	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280671	"" []	4396134	\N	\N	EFO	6	EFO	genetic disorder	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280671	"" []	5997738	\N	\N	EFO	8	EFO	disposition	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280671	"" []	5413902	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280671	"" []	6551062	\N	\N	EFO	9	EFO	material property	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280671	"" []	6889217	\N	\N	EFO	10	EFO	experimental factor	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Orphanet:280679	\N	\N	"" []	Orphanet:280679	"" []	75706	\N	\N	EFO	0	EFO	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Orphanet:181441	Orphanet:280679	\N	"" []	Orphanet:280679	"" []	218378	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Orphanet:183503	Orphanet:280679	\N	"" []	Orphanet:280679	"" []	218379	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Orphanet:330197	Orphanet:280679	\N	"" []	Orphanet:280679	"" []	218380	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:280679	"" []	573450	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:280679	"" []	573451	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:280679	"" []	573452	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:280679	"" []	573453	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280679	"" []	1156022	\N	\N	EFO	3	EFO	genetic disorder	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:280679	"" []	1156023	\N	\N	EFO	3	EFO	endocrine system disease	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:280679	"" []	1156024	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280679	"" []	1156025	\N	\N	EFO	3	EFO	genetic disorder	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:280679	"" []	1156026	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280679	"" []	5413905	\N	\N	EFO	7	EFO	disease	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280679	"" []	2038901	\N	\N	EFO	4	EFO	disease	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:280679	"" []	2038902	\N	\N	EFO	4	EFO	Rare genetic male infertility	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280679	"" []	2038903	\N	\N	EFO	4	EFO	genetic disorder	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280679	"" []	5817668	\N	\N	EFO	8	EFO	disposition	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:280679	"" []	3189161	\N	\N	EFO	5	EFO	Genetic infertility	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280679	"" []	6410073	\N	\N	EFO	9	EFO	material property	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280679	"" []	4396136	\N	\N	EFO	6	EFO	genetic disorder	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:280679	"" []	4396137	\N	\N	EFO	6	EFO	reproductive system disease	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280679	"" []	6807916	\N	\N	EFO	10	EFO	experimental factor	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280679	"" []	5413906	\N	\N	EFO	7	EFO	disease	Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Orphanet:280763	\N	\N	"" []	Orphanet:280763	"" []	75707	\N	\N	EFO	0	EFO	Severe intellectual disability and progressive spastic paraplegia	Severe intellectual disability and progressive spastic paraplegia
Orphanet:100981	Orphanet:280763	\N	"" []	Orphanet:280763	"" []	218381	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Severe intellectual disability and progressive spastic paraplegia
Orphanet:183763	Orphanet:280763	\N	"" []	Orphanet:280763	"" []	218382	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Severe intellectual disability and progressive spastic paraplegia
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:280763	"" []	573454	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Severe intellectual disability and progressive spastic paraplegia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:280763	"" []	573455	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Severe intellectual disability and progressive spastic paraplegia
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:280763	"" []	1156027	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Severe intellectual disability and progressive spastic paraplegia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:280763	"" []	1156028	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Severe intellectual disability and progressive spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:280763	"" []	2038904	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Severe intellectual disability and progressive spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:280763	"" []	4396140	\N	\N	EFO	6	EFO	genetic disorder	Severe intellectual disability and progressive spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:280763	"" []	3189163	\N	\N	EFO	5	EFO	neurodegenerative disease	Severe intellectual disability and progressive spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:280763	"" []	3189164	\N	\N	EFO	5	EFO	brain disease	Severe intellectual disability and progressive spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:280763	"" []	3189165	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Severe intellectual disability and progressive spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280763	"" []	5059896	\N	\N	EFO	7	EFO	disease	Severe intellectual disability and progressive spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280763	"" []	4396138	\N	\N	EFO	6	EFO	nervous system disease	Severe intellectual disability and progressive spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:280763	"" []	4396139	\N	\N	EFO	6	EFO	nervous system disease	Severe intellectual disability and progressive spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:280763	"" []	5877203	\N	\N	EFO	8	EFO	disposition	Severe intellectual disability and progressive spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:280763	"" []	5413907	\N	\N	EFO	7	EFO	disease	Severe intellectual disability and progressive spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:280763	"" []	6470434	\N	\N	EFO	9	EFO	material property	Severe intellectual disability and progressive spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:280763	"" []	6848526	\N	\N	EFO	10	EFO	experimental factor	Severe intellectual disability and progressive spastic paraplegia
Orphanet:2809	\N	\N	"" []	Orphanet:2809	"" []	75708	\N	\N	EFO	0	EFO	Familial recurrent peripheral facial palsy	Familial recurrent peripheral facial palsy
EFO:1000631	Orphanet:2809	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:2809	"" []	218383	\N	\N	EFO	1	EFO	palsy	Familial recurrent peripheral facial palsy
Orphanet:98497	Orphanet:2809	\N	"" []	Orphanet:2809	"" []	218384	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Familial recurrent peripheral facial palsy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2809	"" []	573456	\N	\N	EFO	2	EFO	nervous system disease	Familial recurrent peripheral facial palsy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:2809	"" []	573457	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Familial recurrent peripheral facial palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2809	"" []	1156029	\N	\N	EFO	3	EFO	disease	Familial recurrent peripheral facial palsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2809	"" []	1156030	\N	\N	EFO	3	EFO	genetic disorder	Familial recurrent peripheral facial palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2809	"" []	3189168	\N	\N	EFO	5	EFO	disposition	Familial recurrent peripheral facial palsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2809	"" []	2038907	\N	\N	EFO	4	EFO	disease	Familial recurrent peripheral facial palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2809	"" []	4133760	\N	\N	EFO	6	EFO	material property	Familial recurrent peripheral facial palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2809	"" []	5182394	\N	\N	EFO	7	EFO	experimental factor	Familial recurrent peripheral facial palsy
Orphanet:281	\N	\N	"" []	Orphanet:281	"" []	75709	\N	\N	EFO	0	EFO	Monosomy 5p	Monosomy 5p
Orphanet:261893	Orphanet:281	\N	"" []	Orphanet:281	"" []	218385	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 5	Monosomy 5p
Orphanet:98574	Orphanet:281	\N	"" []	Orphanet:281	"" []	218386	\N	\N	EFO	1	EFO	Syndromic epicanthus	Monosomy 5p
Orphanet:98683	Orphanet:281	\N	"" []	Orphanet:281	"" []	218387	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Monosomy 5p
Orphanet:261786	Orphanet:261893	\N	"" []	Orphanet:281	"" []	573458	\N	\N	EFO	2	EFO	Partial deletion of chromosome 5	Monosomy 5p
Orphanet:98573	Orphanet:98574	\N	"" []	Orphanet:281	"" []	573459	\N	\N	EFO	2	EFO	Epicanthal fold	Monosomy 5p
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:281	"" []	573460	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Monosomy 5p
Orphanet:98142	Orphanet:261786	\N	"" []	Orphanet:281	"" []	1156031	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Monosomy 5p
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:281	"" []	1156032	\N	\N	EFO	3	EFO	Canthal anomaly	Monosomy 5p
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:281	"" []	1156033	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Monosomy 5p
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:281	"" []	2038908	\N	\N	EFO	4	EFO	Autosomal monosomy	Monosomy 5p
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:281	"" []	2038909	\N	\N	EFO	4	EFO	Rare palpebral disease	Monosomy 5p
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:281	"" []	2038910	\N	\N	EFO	4	EFO	Rare genetic eye disease	Monosomy 5p
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:281	"" []	3189169	\N	\N	EFO	5	EFO	Autosomal anomaly	Monosomy 5p
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:281	"" []	3189170	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Monosomy 5p
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281	"" []	5413910	\N	\N	EFO	7	EFO	genetic disorder	Monosomy 5p
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:281	"" []	5413911	\N	\N	EFO	7	EFO	eye disease	Monosomy 5p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:281	"" []	4396143	\N	\N	EFO	6	EFO	Chromosomal anomaly	Monosomy 5p
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:281	"" []	4396144	\N	\N	EFO	6	EFO	Rare genetic eye disease	Monosomy 5p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281	"" []	5877204	\N	\N	EFO	8	EFO	disease	Monosomy 5p
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281	"" []	5877205	\N	\N	EFO	8	EFO	disease	Monosomy 5p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281	"" []	5413909	\N	\N	EFO	7	EFO	genetic disorder	Monosomy 5p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281	"" []	6470435	\N	\N	EFO	9	EFO	disposition	Monosomy 5p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281	"" []	6848527	\N	\N	EFO	10	EFO	material property	Monosomy 5p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281	"" []	7068457	\N	\N	EFO	11	EFO	experimental factor	Monosomy 5p
Orphanet:281082	\N	\N	"" []	Orphanet:281082	"" []	75710	\N	\N	EFO	0	EFO	Inherited non-syndromic ichthyosis	Inherited non-syndromic ichthyosis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:281082	"" []	218388	\N	\N	EFO	1	EFO	Inherited ichthyosis	Inherited non-syndromic ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281082	"" []	573461	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Inherited non-syndromic ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281082	"" []	1156034	\N	\N	EFO	3	EFO	Rare genetic skin disease	Inherited non-syndromic ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281082	"" []	2038911	\N	\N	EFO	4	EFO	genetic disorder	Inherited non-syndromic ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281082	"" []	2038912	\N	\N	EFO	4	EFO	skin disease	Inherited non-syndromic ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281082	"" []	3189173	\N	\N	EFO	5	EFO	disease	Inherited non-syndromic ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281082	"" []	3189174	\N	\N	EFO	5	EFO	disease	Inherited non-syndromic ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281082	"" []	4396147	\N	\N	EFO	6	EFO	disposition	Inherited non-syndromic ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281082	"" []	5413913	\N	\N	EFO	7	EFO	material property	Inherited non-syndromic ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281082	"" []	6150325	\N	\N	EFO	8	EFO	experimental factor	Inherited non-syndromic ichthyosis
Orphanet:281085	\N	\N	"" []	Orphanet:281085	"" []	75711	\N	\N	EFO	0	EFO	Inherited ichthyosis syndromic form	Inherited ichthyosis syndromic form
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:281085	"" []	218389	\N	\N	EFO	1	EFO	Inherited ichthyosis	Inherited ichthyosis syndromic form
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281085	"" []	573462	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Inherited ichthyosis syndromic form
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281085	"" []	1156035	\N	\N	EFO	3	EFO	Rare genetic skin disease	Inherited ichthyosis syndromic form
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281085	"" []	2038913	\N	\N	EFO	4	EFO	genetic disorder	Inherited ichthyosis syndromic form
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281085	"" []	2038914	\N	\N	EFO	4	EFO	skin disease	Inherited ichthyosis syndromic form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281085	"" []	3189175	\N	\N	EFO	5	EFO	disease	Inherited ichthyosis syndromic form
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281085	"" []	3189176	\N	\N	EFO	5	EFO	disease	Inherited ichthyosis syndromic form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281085	"" []	4396148	\N	\N	EFO	6	EFO	disposition	Inherited ichthyosis syndromic form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281085	"" []	5413914	\N	\N	EFO	7	EFO	material property	Inherited ichthyosis syndromic form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281085	"" []	6150326	\N	\N	EFO	8	EFO	experimental factor	Inherited ichthyosis syndromic form
Orphanet:281090	\N	\N	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	75712	\N	\N	EFO	0	EFO	Syndromic X-linked ichthyosis	Syndromic X-linked ichthyosis
Orphanet:281210	Orphanet:281090	\N	"" []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	218390	\N	\N	EFO	1	EFO	X-linked ichthyosis syndrome	Syndromic X-linked ichthyosis
Orphanet:281085	Orphanet:281210	\N	"" []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	573463	\N	\N	EFO	2	EFO	Inherited ichthyosis syndromic form	Syndromic X-linked ichthyosis
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	1156036	\N	\N	EFO	3	EFO	Inherited ichthyosis	Syndromic X-linked ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	2038915	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Syndromic X-linked ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	3189177	\N	\N	EFO	5	EFO	Rare genetic skin disease	Syndromic X-linked ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	4396149	\N	\N	EFO	6	EFO	genetic disorder	Syndromic X-linked ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	4396150	\N	\N	EFO	6	EFO	skin disease	Syndromic X-linked ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	5413915	\N	\N	EFO	7	EFO	disease	Syndromic X-linked ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	5413916	\N	\N	EFO	7	EFO	disease	Syndromic X-linked ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	6150327	\N	\N	EFO	8	EFO	disposition	Syndromic X-linked ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	6633111	\N	\N	EFO	9	EFO	material property	Syndromic X-linked ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281090	"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." []	6925840	\N	\N	EFO	10	EFO	experimental factor	Syndromic X-linked ichthyosis
Orphanet:281097	\N	\N	"" []	Orphanet:281097	"" []	75713	\N	\N	EFO	0	EFO	Autosomal recessive congenital ichthyosis	Autosomal recessive congenital ichthyosis
Orphanet:281082	Orphanet:281097	\N	"" []	Orphanet:281097	"" []	218391	\N	\N	EFO	1	EFO	Inherited non-syndromic ichthyosis	Autosomal recessive congenital ichthyosis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:281097	"" []	573464	\N	\N	EFO	2	EFO	Inherited ichthyosis	Autosomal recessive congenital ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281097	"" []	1156037	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Autosomal recessive congenital ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281097	"" []	2038916	\N	\N	EFO	4	EFO	Rare genetic skin disease	Autosomal recessive congenital ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281097	"" []	3189178	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive congenital ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281097	"" []	3189179	\N	\N	EFO	5	EFO	skin disease	Autosomal recessive congenital ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281097	"" []	4396151	\N	\N	EFO	6	EFO	disease	Autosomal recessive congenital ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281097	"" []	4396152	\N	\N	EFO	6	EFO	disease	Autosomal recessive congenital ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281097	"" []	5413917	\N	\N	EFO	7	EFO	disposition	Autosomal recessive congenital ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281097	"" []	6150328	\N	\N	EFO	8	EFO	material property	Autosomal recessive congenital ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281097	"" []	6633112	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive congenital ichthyosis
Orphanet:281103	\N	\N	"" []	Orphanet:281103	"" []	75714	\N	\N	EFO	0	EFO	Keratinopathic ichthyosis	Keratinopathic ichthyosis
Orphanet:281082	Orphanet:281103	\N	"" []	Orphanet:281103	"" []	218392	\N	\N	EFO	1	EFO	Inherited non-syndromic ichthyosis	Keratinopathic ichthyosis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:281103	"" []	573465	\N	\N	EFO	2	EFO	Inherited ichthyosis	Keratinopathic ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281103	"" []	1156038	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Keratinopathic ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281103	"" []	2038917	\N	\N	EFO	4	EFO	Rare genetic skin disease	Keratinopathic ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281103	"" []	3189180	\N	\N	EFO	5	EFO	genetic disorder	Keratinopathic ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281103	"" []	3189181	\N	\N	EFO	5	EFO	skin disease	Keratinopathic ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281103	"" []	4396153	\N	\N	EFO	6	EFO	disease	Keratinopathic ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281103	"" []	4396154	\N	\N	EFO	6	EFO	disease	Keratinopathic ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281103	"" []	5413918	\N	\N	EFO	7	EFO	disposition	Keratinopathic ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281103	"" []	6150329	\N	\N	EFO	8	EFO	material property	Keratinopathic ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281103	"" []	6633113	\N	\N	EFO	9	EFO	experimental factor	Keratinopathic ichthyosis
Orphanet:281122	\N	\N	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	75715	\N	\N	EFO	0	EFO	Self-healing collodion baby	Self-healing collodion baby
Orphanet:281097	Orphanet:281122	\N	"" []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	218393	\N	\N	EFO	1	EFO	Autosomal recessive congenital ichthyosis	Self-healing collodion baby
Orphanet:281082	Orphanet:281097	\N	"" []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	573466	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Self-healing collodion baby
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	1156039	\N	\N	EFO	3	EFO	Inherited ichthyosis	Self-healing collodion baby
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	2038918	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Self-healing collodion baby
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	3189182	\N	\N	EFO	5	EFO	Rare genetic skin disease	Self-healing collodion baby
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	4396155	\N	\N	EFO	6	EFO	genetic disorder	Self-healing collodion baby
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	4396156	\N	\N	EFO	6	EFO	skin disease	Self-healing collodion baby
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	5413919	\N	\N	EFO	7	EFO	disease	Self-healing collodion baby
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	5413920	\N	\N	EFO	7	EFO	disease	Self-healing collodion baby
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	6150330	\N	\N	EFO	8	EFO	disposition	Self-healing collodion baby
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	6633114	\N	\N	EFO	9	EFO	material property	Self-healing collodion baby
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281122	"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." []	6925841	\N	\N	EFO	10	EFO	experimental factor	Self-healing collodion baby
Orphanet:281127	\N	\N	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	75716	\N	\N	EFO	0	EFO	Acral self-healing collodion baby	Acral self-healing collodion baby
Orphanet:281097	Orphanet:281127	\N	"" []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	218394	\N	\N	EFO	1	EFO	Autosomal recessive congenital ichthyosis	Acral self-healing collodion baby
Orphanet:281082	Orphanet:281097	\N	"" []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	573467	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Acral self-healing collodion baby
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	1156040	\N	\N	EFO	3	EFO	Inherited ichthyosis	Acral self-healing collodion baby
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	2038919	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Acral self-healing collodion baby
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	3189183	\N	\N	EFO	5	EFO	Rare genetic skin disease	Acral self-healing collodion baby
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	4396157	\N	\N	EFO	6	EFO	genetic disorder	Acral self-healing collodion baby
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	4396158	\N	\N	EFO	6	EFO	skin disease	Acral self-healing collodion baby
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	5413921	\N	\N	EFO	7	EFO	disease	Acral self-healing collodion baby
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	5413922	\N	\N	EFO	7	EFO	disease	Acral self-healing collodion baby
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	6150331	\N	\N	EFO	8	EFO	disposition	Acral self-healing collodion baby
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	6633115	\N	\N	EFO	9	EFO	material property	Acral self-healing collodion baby
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281127	"Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." []	6925842	\N	\N	EFO	10	EFO	experimental factor	Acral self-healing collodion baby
Orphanet:281139	\N	\N	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	75717	\N	\N	EFO	0	EFO	Annular epidermolytic ichthyosis	Annular epidermolytic ichthyosis
Orphanet:281103	Orphanet:281139	\N	"" []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	218395	\N	\N	EFO	1	EFO	Keratinopathic ichthyosis	Annular epidermolytic ichthyosis
Orphanet:281082	Orphanet:281103	\N	"" []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	573468	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Annular epidermolytic ichthyosis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	1156041	\N	\N	EFO	3	EFO	Inherited ichthyosis	Annular epidermolytic ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	2038920	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Annular epidermolytic ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	3189184	\N	\N	EFO	5	EFO	Rare genetic skin disease	Annular epidermolytic ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	4396159	\N	\N	EFO	6	EFO	genetic disorder	Annular epidermolytic ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	4396160	\N	\N	EFO	6	EFO	skin disease	Annular epidermolytic ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	5413923	\N	\N	EFO	7	EFO	disease	Annular epidermolytic ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	5413924	\N	\N	EFO	7	EFO	disease	Annular epidermolytic ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	6150332	\N	\N	EFO	8	EFO	disposition	Annular epidermolytic ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	6633116	\N	\N	EFO	9	EFO	material property	Annular epidermolytic ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281139	"Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." []	6925843	\N	\N	EFO	10	EFO	experimental factor	Annular epidermolytic ichthyosis
Orphanet:281190	\N	\N	"" []	Orphanet:281190	"" []	75718	\N	\N	EFO	0	EFO	Congenital reticular ichthyosiform erythroderma	Congenital reticular ichthyosiform erythroderma
Orphanet:281082	Orphanet:281190	\N	"" []	Orphanet:281190	"" []	218396	\N	\N	EFO	1	EFO	Inherited non-syndromic ichthyosis	Congenital reticular ichthyosiform erythroderma
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:281190	"" []	573469	\N	\N	EFO	2	EFO	Inherited ichthyosis	Congenital reticular ichthyosiform erythroderma
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281190	"" []	1156042	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Congenital reticular ichthyosiform erythroderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281190	"" []	2038921	\N	\N	EFO	4	EFO	Rare genetic skin disease	Congenital reticular ichthyosiform erythroderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281190	"" []	3189185	\N	\N	EFO	5	EFO	genetic disorder	Congenital reticular ichthyosiform erythroderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281190	"" []	3189186	\N	\N	EFO	5	EFO	skin disease	Congenital reticular ichthyosiform erythroderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281190	"" []	4396161	\N	\N	EFO	6	EFO	disease	Congenital reticular ichthyosiform erythroderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281190	"" []	4396162	\N	\N	EFO	6	EFO	disease	Congenital reticular ichthyosiform erythroderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281190	"" []	5413925	\N	\N	EFO	7	EFO	disposition	Congenital reticular ichthyosiform erythroderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281190	"" []	6150333	\N	\N	EFO	8	EFO	material property	Congenital reticular ichthyosiform erythroderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281190	"" []	6633117	\N	\N	EFO	9	EFO	experimental factor	Congenital reticular ichthyosiform erythroderma
Orphanet:2812	\N	\N	"" []	Orphanet:2812	"" []	75719	\N	\N	EFO	0	EFO	Parana hard-skin syndrome	Parana hard-skin syndrome
Orphanet:79385	Orphanet:2812	\N	"" []	Orphanet:2812	"" []	218397	\N	\N	EFO	1	EFO	Unclassified genetic skin disorder	Parana hard-skin syndrome
Orphanet:68346	Orphanet:79385	\N	"" []	Orphanet:2812	"" []	573470	\N	\N	EFO	2	EFO	Rare genetic skin disease	Parana hard-skin syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2812	"" []	1156043	\N	\N	EFO	3	EFO	genetic disorder	Parana hard-skin syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2812	"" []	1156044	\N	\N	EFO	3	EFO	skin disease	Parana hard-skin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2812	"" []	2038922	\N	\N	EFO	4	EFO	disease	Parana hard-skin syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2812	"" []	2038923	\N	\N	EFO	4	EFO	disease	Parana hard-skin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2812	"" []	3189187	\N	\N	EFO	5	EFO	disposition	Parana hard-skin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2812	"" []	4396163	\N	\N	EFO	6	EFO	material property	Parana hard-skin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2812	"" []	5413926	\N	\N	EFO	7	EFO	experimental factor	Parana hard-skin syndrome
Orphanet:281201	\N	\N	"" []	Orphanet:281201	"" []	75720	\N	\N	EFO	0	EFO	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Orphanet:281082	Orphanet:281201	\N	"" []	Orphanet:281201	"" []	218398	\N	\N	EFO	1	EFO	Inherited non-syndromic ichthyosis	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Orphanet:307773	Orphanet:281201	\N	"" []	Orphanet:281201	"" []	218399	\N	\N	EFO	1	EFO	Autosomal dominant diffuse mutilating palmoplantar keratoderma	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:281201	"" []	573471	\N	\N	EFO	2	EFO	Inherited ichthyosis	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Orphanet:98352	Orphanet:307773	\N	"" []	Orphanet:281201	"" []	573472	\N	\N	EFO	2	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281201	"" []	1156045	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:281201	"" []	1156046	\N	\N	EFO	3	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281201	"" []	5413928	\N	\N	EFO	7	EFO	Rare genetic skin disease	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:281201	"" []	2038925	\N	\N	EFO	4	EFO	Diffuse palmoplantar keratoderma	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281201	"" []	5817669	\N	\N	EFO	8	EFO	genetic disorder	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281201	"" []	5817670	\N	\N	EFO	8	EFO	skin disease	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:281201	"" []	3189190	\N	\N	EFO	5	EFO	Hereditary palmoplantar keratoderma	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281201	"" []	6410074	\N	\N	EFO	9	EFO	disease	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281201	"" []	6410075	\N	\N	EFO	9	EFO	disease	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:281201	"" []	4396166	\N	\N	EFO	6	EFO	Genetic epidermal disorder	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281201	"" []	6807917	\N	\N	EFO	10	EFO	disposition	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281201	"" []	7048665	\N	\N	EFO	11	EFO	material property	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281201	"" []	7190228	\N	\N	EFO	12	EFO	experimental factor	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Orphanet:281210	\N	\N	"" []	Orphanet:281210	"" []	75721	\N	\N	EFO	0	EFO	X-linked ichthyosis syndrome	X-linked ichthyosis syndrome
Orphanet:281085	Orphanet:281210	\N	"" []	Orphanet:281210	"" []	218400	\N	\N	EFO	1	EFO	Inherited ichthyosis syndromic form	X-linked ichthyosis syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:281210	"" []	573473	\N	\N	EFO	2	EFO	Inherited ichthyosis	X-linked ichthyosis syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281210	"" []	1156047	\N	\N	EFO	3	EFO	Genetic epidermal disorder	X-linked ichthyosis syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281210	"" []	2038926	\N	\N	EFO	4	EFO	Rare genetic skin disease	X-linked ichthyosis syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281210	"" []	3189191	\N	\N	EFO	5	EFO	genetic disorder	X-linked ichthyosis syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281210	"" []	3189192	\N	\N	EFO	5	EFO	skin disease	X-linked ichthyosis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281210	"" []	4396167	\N	\N	EFO	6	EFO	disease	X-linked ichthyosis syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281210	"" []	4396168	\N	\N	EFO	6	EFO	disease	X-linked ichthyosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281210	"" []	5413929	\N	\N	EFO	7	EFO	disposition	X-linked ichthyosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281210	"" []	6150335	\N	\N	EFO	8	EFO	material property	X-linked ichthyosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281210	"" []	6633119	\N	\N	EFO	9	EFO	experimental factor	X-linked ichthyosis syndrome
Orphanet:281217	\N	\N	"" []	Orphanet:281217	"" []	75722	\N	\N	EFO	0	EFO	Autosomal ichthyosis syndrome	Autosomal ichthyosis syndrome
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:281217	"" []	218401	\N	\N	EFO	1	EFO	Inherited ichthyosis syndromic form	Autosomal ichthyosis syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:281217	"" []	573474	\N	\N	EFO	2	EFO	Inherited ichthyosis	Autosomal ichthyosis syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281217	"" []	1156048	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Autosomal ichthyosis syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281217	"" []	2038927	\N	\N	EFO	4	EFO	Rare genetic skin disease	Autosomal ichthyosis syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281217	"" []	3189193	\N	\N	EFO	5	EFO	genetic disorder	Autosomal ichthyosis syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281217	"" []	3189194	\N	\N	EFO	5	EFO	skin disease	Autosomal ichthyosis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281217	"" []	4396169	\N	\N	EFO	6	EFO	disease	Autosomal ichthyosis syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281217	"" []	4396170	\N	\N	EFO	6	EFO	disease	Autosomal ichthyosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281217	"" []	5413930	\N	\N	EFO	7	EFO	disposition	Autosomal ichthyosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281217	"" []	6150336	\N	\N	EFO	8	EFO	material property	Autosomal ichthyosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281217	"" []	6633120	\N	\N	EFO	9	EFO	experimental factor	Autosomal ichthyosis syndrome
Orphanet:281222	\N	\N	"" []	Orphanet:281222	"" []	75723	\N	\N	EFO	0	EFO	Autosomal ichthyosis syndrome with prominent hair abnormalities	Autosomal ichthyosis syndrome with prominent hair abnormalities
Orphanet:281217	Orphanet:281222	\N	"" []	Orphanet:281222	"" []	218402	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome	Autosomal ichthyosis syndrome with prominent hair abnormalities
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:281222	"" []	573475	\N	\N	EFO	2	EFO	Inherited ichthyosis syndromic form	Autosomal ichthyosis syndrome with prominent hair abnormalities
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:281222	"" []	1156049	\N	\N	EFO	3	EFO	Inherited ichthyosis	Autosomal ichthyosis syndrome with prominent hair abnormalities
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281222	"" []	2038928	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal ichthyosis syndrome with prominent hair abnormalities
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281222	"" []	3189195	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal ichthyosis syndrome with prominent hair abnormalities
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281222	"" []	4396171	\N	\N	EFO	6	EFO	genetic disorder	Autosomal ichthyosis syndrome with prominent hair abnormalities
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281222	"" []	4396172	\N	\N	EFO	6	EFO	skin disease	Autosomal ichthyosis syndrome with prominent hair abnormalities
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281222	"" []	5413931	\N	\N	EFO	7	EFO	disease	Autosomal ichthyosis syndrome with prominent hair abnormalities
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281222	"" []	5413932	\N	\N	EFO	7	EFO	disease	Autosomal ichthyosis syndrome with prominent hair abnormalities
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281222	"" []	6150337	\N	\N	EFO	8	EFO	disposition	Autosomal ichthyosis syndrome with prominent hair abnormalities
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281222	"" []	6633121	\N	\N	EFO	9	EFO	material property	Autosomal ichthyosis syndrome with prominent hair abnormalities
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281222	"" []	6925844	\N	\N	EFO	10	EFO	experimental factor	Autosomal ichthyosis syndrome with prominent hair abnormalities
Orphanet:281238	\N	\N	"" []	Orphanet:281238	"" []	75724	\N	\N	EFO	0	EFO	Autosomal ichthyosis syndrome with prominent neurologics signs	Autosomal ichthyosis syndrome with prominent neurologics signs
Orphanet:281217	Orphanet:281238	\N	"" []	Orphanet:281238	"" []	218403	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome	Autosomal ichthyosis syndrome with prominent neurologics signs
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:281238	"" []	573476	\N	\N	EFO	2	EFO	Inherited ichthyosis syndromic form	Autosomal ichthyosis syndrome with prominent neurologics signs
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:281238	"" []	1156050	\N	\N	EFO	3	EFO	Inherited ichthyosis	Autosomal ichthyosis syndrome with prominent neurologics signs
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281238	"" []	2038929	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal ichthyosis syndrome with prominent neurologics signs
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281238	"" []	3189196	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal ichthyosis syndrome with prominent neurologics signs
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281238	"" []	4396173	\N	\N	EFO	6	EFO	genetic disorder	Autosomal ichthyosis syndrome with prominent neurologics signs
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281238	"" []	4396174	\N	\N	EFO	6	EFO	skin disease	Autosomal ichthyosis syndrome with prominent neurologics signs
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281238	"" []	5413933	\N	\N	EFO	7	EFO	disease	Autosomal ichthyosis syndrome with prominent neurologics signs
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281238	"" []	5413934	\N	\N	EFO	7	EFO	disease	Autosomal ichthyosis syndrome with prominent neurologics signs
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281238	"" []	6150338	\N	\N	EFO	8	EFO	disposition	Autosomal ichthyosis syndrome with prominent neurologics signs
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281238	"" []	6633122	\N	\N	EFO	9	EFO	material property	Autosomal ichthyosis syndrome with prominent neurologics signs
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281238	"" []	6925845	\N	\N	EFO	10	EFO	experimental factor	Autosomal ichthyosis syndrome with prominent neurologics signs
Orphanet:281241	\N	\N	"" []	Orphanet:281241	"" []	75725	\N	\N	EFO	0	EFO	Autosomal ichthyosis syndrome with fatal disease course	Autosomal ichthyosis syndrome with fatal disease course
Orphanet:281217	Orphanet:281241	\N	"" []	Orphanet:281241	"" []	218404	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome	Autosomal ichthyosis syndrome with fatal disease course
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:281241	"" []	573477	\N	\N	EFO	2	EFO	Inherited ichthyosis syndromic form	Autosomal ichthyosis syndrome with fatal disease course
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:281241	"" []	1156051	\N	\N	EFO	3	EFO	Inherited ichthyosis	Autosomal ichthyosis syndrome with fatal disease course
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281241	"" []	2038930	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal ichthyosis syndrome with fatal disease course
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281241	"" []	3189197	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal ichthyosis syndrome with fatal disease course
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281241	"" []	4396175	\N	\N	EFO	6	EFO	genetic disorder	Autosomal ichthyosis syndrome with fatal disease course
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281241	"" []	4396176	\N	\N	EFO	6	EFO	skin disease	Autosomal ichthyosis syndrome with fatal disease course
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281241	"" []	5413935	\N	\N	EFO	7	EFO	disease	Autosomal ichthyosis syndrome with fatal disease course
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281241	"" []	5413936	\N	\N	EFO	7	EFO	disease	Autosomal ichthyosis syndrome with fatal disease course
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281241	"" []	6150339	\N	\N	EFO	8	EFO	disposition	Autosomal ichthyosis syndrome with fatal disease course
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281241	"" []	6633123	\N	\N	EFO	9	EFO	material property	Autosomal ichthyosis syndrome with fatal disease course
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281241	"" []	6925846	\N	\N	EFO	10	EFO	experimental factor	Autosomal ichthyosis syndrome with fatal disease course
Orphanet:281244	\N	\N	"" []	Orphanet:281244	"" []	75726	\N	\N	EFO	0	EFO	Autosomal ichthyosis syndrome with other associated signs	Autosomal ichthyosis syndrome with other associated signs
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:281244	"" []	218405	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome	Autosomal ichthyosis syndrome with other associated signs
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:281244	"" []	573478	\N	\N	EFO	2	EFO	Inherited ichthyosis syndromic form	Autosomal ichthyosis syndrome with other associated signs
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:281244	"" []	1156052	\N	\N	EFO	3	EFO	Inherited ichthyosis	Autosomal ichthyosis syndrome with other associated signs
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:281244	"" []	2038931	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal ichthyosis syndrome with other associated signs
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:281244	"" []	3189198	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal ichthyosis syndrome with other associated signs
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:281244	"" []	4396177	\N	\N	EFO	6	EFO	genetic disorder	Autosomal ichthyosis syndrome with other associated signs
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:281244	"" []	4396178	\N	\N	EFO	6	EFO	skin disease	Autosomal ichthyosis syndrome with other associated signs
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281244	"" []	5413937	\N	\N	EFO	7	EFO	disease	Autosomal ichthyosis syndrome with other associated signs
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:281244	"" []	5413938	\N	\N	EFO	7	EFO	disease	Autosomal ichthyosis syndrome with other associated signs
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:281244	"" []	6150340	\N	\N	EFO	8	EFO	disposition	Autosomal ichthyosis syndrome with other associated signs
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:281244	"" []	6633124	\N	\N	EFO	9	EFO	material property	Autosomal ichthyosis syndrome with other associated signs
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:281244	"" []	6925847	\N	\N	EFO	10	EFO	experimental factor	Autosomal ichthyosis syndrome with other associated signs
Orphanet:2815	\N	\N	"" []	Orphanet:2815	"" []	75727	\N	\N	EFO	0	EFO	Spastic paraparesis - deafness	Spastic paraparesis - deafness
Orphanet:90642	Orphanet:2815	\N	"" []	Orphanet:2815	"" []	218406	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Spastic paraparesis - deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2815	"" []	573479	\N	\N	EFO	2	EFO	Rare genetic deafness	Spastic paraparesis - deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2815	"" []	1156053	\N	\N	EFO	3	EFO	genetic disorder	Spastic paraparesis - deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2815	"" []	1156054	\N	\N	EFO	3	EFO	auditory system disease	Spastic paraparesis - deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2815	"" []	2038932	\N	\N	EFO	4	EFO	disease	Spastic paraparesis - deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2815	"" []	2038933	\N	\N	EFO	4	EFO	sensory system disease	Spastic paraparesis - deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2815	"" []	5413940	\N	\N	EFO	7	EFO	disposition	Spastic paraparesis - deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2815	"" []	3189200	\N	\N	EFO	5	EFO	nervous system disease	Spastic paraparesis - deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2815	"" []	5877206	\N	\N	EFO	8	EFO	material property	Spastic paraparesis - deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2815	"" []	4396180	\N	\N	EFO	6	EFO	disease	Spastic paraparesis - deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2815	"" []	6470436	\N	\N	EFO	9	EFO	experimental factor	Spastic paraparesis - deafness
Orphanet:2816	\N	\N	"" []	Orphanet:2816	"" []	75728	\N	\N	EFO	0	EFO	Spastic paraplegia - epilepsy - intellectual disability	Spastic paraplegia - epilepsy - intellectual disability
Orphanet:100979	Orphanet:2816	\N	"" []	Orphanet:2816	"" []	218407	\N	\N	EFO	1	EFO	Autosomal dominant complex spastic paraplegia	Spastic paraplegia - epilepsy - intellectual disability
Orphanet:183763	Orphanet:2816	\N	"" []	Orphanet:2816	"" []	218408	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Spastic paraplegia - epilepsy - intellectual disability
Orphanet:102013	Orphanet:100979	\N	"" []	Orphanet:2816	"" []	573480	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Spastic paraplegia - epilepsy - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2816	"" []	573481	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Spastic paraplegia - epilepsy - intellectual disability
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:2816	"" []	1156055	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Spastic paraplegia - epilepsy - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2816	"" []	1156056	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Spastic paraplegia - epilepsy - intellectual disability
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:2816	"" []	2038934	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Spastic paraplegia - epilepsy - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2816	"" []	4396183	\N	\N	EFO	6	EFO	genetic disorder	Spastic paraplegia - epilepsy - intellectual disability
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2816	"" []	3189201	\N	\N	EFO	5	EFO	neurodegenerative disease	Spastic paraplegia - epilepsy - intellectual disability
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2816	"" []	3189202	\N	\N	EFO	5	EFO	brain disease	Spastic paraplegia - epilepsy - intellectual disability
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2816	"" []	3189203	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spastic paraplegia - epilepsy - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2816	"" []	5059897	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - epilepsy - intellectual disability
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2816	"" []	4396181	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - epilepsy - intellectual disability
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2816	"" []	4396182	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - epilepsy - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2816	"" []	5877207	\N	\N	EFO	8	EFO	disposition	Spastic paraplegia - epilepsy - intellectual disability
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2816	"" []	5413941	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - epilepsy - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2816	"" []	6470437	\N	\N	EFO	9	EFO	material property	Spastic paraplegia - epilepsy - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2816	"" []	6848528	\N	\N	EFO	10	EFO	experimental factor	Spastic paraplegia - epilepsy - intellectual disability
Orphanet:2818	\N	\N	"" []	Orphanet:2818	"" []	75729	\N	\N	EFO	0	EFO	Spastic paraplegia - glaucoma - intellectual disability	Spastic paraplegia - glaucoma - intellectual disability
Orphanet:100981	Orphanet:2818	\N	"" []	Orphanet:2818	"" []	218409	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Spastic paraplegia - glaucoma - intellectual disability
Orphanet:183763	Orphanet:2818	\N	"" []	Orphanet:2818	"" []	218410	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Spastic paraplegia - glaucoma - intellectual disability
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:2818	"" []	573482	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Spastic paraplegia - glaucoma - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2818	"" []	573483	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Spastic paraplegia - glaucoma - intellectual disability
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:2818	"" []	1156057	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Spastic paraplegia - glaucoma - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2818	"" []	1156058	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Spastic paraplegia - glaucoma - intellectual disability
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:2818	"" []	2038936	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Spastic paraplegia - glaucoma - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2818	"" []	4396187	\N	\N	EFO	6	EFO	genetic disorder	Spastic paraplegia - glaucoma - intellectual disability
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2818	"" []	3189205	\N	\N	EFO	5	EFO	neurodegenerative disease	Spastic paraplegia - glaucoma - intellectual disability
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2818	"" []	3189206	\N	\N	EFO	5	EFO	brain disease	Spastic paraplegia - glaucoma - intellectual disability
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2818	"" []	3189207	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spastic paraplegia - glaucoma - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2818	"" []	5059898	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - glaucoma - intellectual disability
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2818	"" []	4396185	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - glaucoma - intellectual disability
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2818	"" []	4396186	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - glaucoma - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2818	"" []	5877208	\N	\N	EFO	8	EFO	disposition	Spastic paraplegia - glaucoma - intellectual disability
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2818	"" []	5413943	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - glaucoma - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2818	"" []	6470438	\N	\N	EFO	9	EFO	material property	Spastic paraplegia - glaucoma - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2818	"" []	6848529	\N	\N	EFO	10	EFO	experimental factor	Spastic paraplegia - glaucoma - intellectual disability
Orphanet:2819	\N	\N	"" []	Orphanet:2819	"" []	75730	\N	\N	EFO	0	EFO	Spastic paraplegia - facial-cutaneous lesions	Spastic paraplegia - facial-cutaneous lesions
Orphanet:100979	Orphanet:2819	\N	"" []	Orphanet:2819	"" []	218411	\N	\N	EFO	1	EFO	Autosomal dominant complex spastic paraplegia	Spastic paraplegia - facial-cutaneous lesions
Orphanet:102013	Orphanet:100979	\N	"" []	Orphanet:2819	"" []	573484	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Spastic paraplegia - facial-cutaneous lesions
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:2819	"" []	1156059	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Spastic paraplegia - facial-cutaneous lesions
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:2819	"" []	2038938	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Spastic paraplegia - facial-cutaneous lesions
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2819	"" []	3189209	\N	\N	EFO	5	EFO	neurodegenerative disease	Spastic paraplegia - facial-cutaneous lesions
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2819	"" []	3189210	\N	\N	EFO	5	EFO	brain disease	Spastic paraplegia - facial-cutaneous lesions
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2819	"" []	3189211	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spastic paraplegia - facial-cutaneous lesions
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2819	"" []	4396189	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - facial-cutaneous lesions
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2819	"" []	4396190	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - facial-cutaneous lesions
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2819	"" []	4396191	\N	\N	EFO	6	EFO	genetic disorder	Spastic paraplegia - facial-cutaneous lesions
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2819	"" []	5413945	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - facial-cutaneous lesions
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2819	"" []	5413946	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - facial-cutaneous lesions
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2819	"" []	6150343	\N	\N	EFO	8	EFO	disposition	Spastic paraplegia - facial-cutaneous lesions
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2819	"" []	6633125	\N	\N	EFO	9	EFO	material property	Spastic paraplegia - facial-cutaneous lesions
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2819	"" []	6925848	\N	\N	EFO	10	EFO	experimental factor	Spastic paraplegia - facial-cutaneous lesions
Orphanet:282	\N	\N	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	75731	\N	\N	EFO	0	EFO	Frontotemporal dementia	Frontotemporal dementia
Orphanet:276061	Orphanet:282	\N	"" []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	218412	\N	\N	EFO	1	EFO	Genetic frontotemporal degeneration with dementia	Frontotemporal dementia
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	573485	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease with dementia	Frontotemporal dementia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	1156060	\N	\N	EFO	3	EFO	Genetic dementia	Frontotemporal dementia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	1156061	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Frontotemporal dementia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	2038939	\N	\N	EFO	4	EFO	brain disease	Frontotemporal dementia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	2038940	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Frontotemporal dementia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	2038941	\N	\N	EFO	4	EFO	neurodegenerative disease	Frontotemporal dementia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	2038942	\N	\N	EFO	4	EFO	brain disease	Frontotemporal dementia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	2038943	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Frontotemporal dementia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	3189212	\N	\N	EFO	5	EFO	nervous system disease	Frontotemporal dementia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	3189213	\N	\N	EFO	5	EFO	genetic disorder	Frontotemporal dementia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	3189214	\N	\N	EFO	5	EFO	nervous system disease	Frontotemporal dementia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	4396192	\N	\N	EFO	6	EFO	disease	Frontotemporal dementia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	4396193	\N	\N	EFO	6	EFO	disease	Frontotemporal dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	5413947	\N	\N	EFO	7	EFO	disposition	Frontotemporal dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	6150344	\N	\N	EFO	8	EFO	material property	Frontotemporal dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:282	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	6633126	\N	\N	EFO	9	EFO	experimental factor	Frontotemporal dementia
Orphanet:2820	\N	\N	"" []	Orphanet:2820	"" []	75732	\N	\N	EFO	0	EFO	Spastic paraplegia - nephritis - deafness	Spastic paraplegia - nephritis - deafness
Orphanet:100979	Orphanet:2820	\N	"" []	Orphanet:2820	"" []	218413	\N	\N	EFO	1	EFO	Autosomal dominant complex spastic paraplegia	Spastic paraplegia - nephritis - deafness
Orphanet:90642	Orphanet:2820	\N	"" []	Orphanet:2820	"" []	218414	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Spastic paraplegia - nephritis - deafness
Orphanet:93547	Orphanet:2820	\N	"" []	Orphanet:2820	"" []	218415	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Spastic paraplegia - nephritis - deafness
Orphanet:102013	Orphanet:100979	\N	"" []	Orphanet:2820	"" []	573486	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Spastic paraplegia - nephritis - deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2820	"" []	573487	\N	\N	EFO	2	EFO	Rare genetic deafness	Spastic paraplegia - nephritis - deafness
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:2820	"" []	573488	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Spastic paraplegia - nephritis - deafness
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:2820	"" []	1156062	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Spastic paraplegia - nephritis - deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2820	"" []	1156063	\N	\N	EFO	3	EFO	genetic disorder	Spastic paraplegia - nephritis - deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2820	"" []	1156064	\N	\N	EFO	3	EFO	auditory system disease	Spastic paraplegia - nephritis - deafness
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2820	"" []	1156065	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Spastic paraplegia - nephritis - deafness
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2820	"" []	1156066	\N	\N	EFO	3	EFO	Rare genetic renal disease	Spastic paraplegia - nephritis - deafness
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:2820	"" []	2038944	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Spastic paraplegia - nephritis - deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2820	"" []	5413949	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - nephritis - deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2820	"" []	2038946	\N	\N	EFO	4	EFO	sensory system disease	Spastic paraplegia - nephritis - deafness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2820	"" []	2038947	\N	\N	EFO	4	EFO	genetic disorder	Spastic paraplegia - nephritis - deafness
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2820	"" []	2038948	\N	\N	EFO	4	EFO	genetic disorder	Spastic paraplegia - nephritis - deafness
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2820	"" []	3189215	\N	\N	EFO	5	EFO	neurodegenerative disease	Spastic paraplegia - nephritis - deafness
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2820	"" []	3189216	\N	\N	EFO	5	EFO	brain disease	Spastic paraplegia - nephritis - deafness
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2820	"" []	3189217	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spastic paraplegia - nephritis - deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2820	"" []	5817671	\N	\N	EFO	8	EFO	disposition	Spastic paraplegia - nephritis - deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2820	"" []	3189219	\N	\N	EFO	5	EFO	nervous system disease	Spastic paraplegia - nephritis - deafness
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2820	"" []	4396194	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - nephritis - deafness
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2820	"" []	4396195	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - nephritis - deafness
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2820	"" []	4396196	\N	\N	EFO	6	EFO	genetic disorder	Spastic paraplegia - nephritis - deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2820	"" []	6410076	\N	\N	EFO	9	EFO	material property	Spastic paraplegia - nephritis - deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2820	"" []	5413948	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - nephritis - deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2820	"" []	6807918	\N	\N	EFO	10	EFO	experimental factor	Spastic paraplegia - nephritis - deafness
Orphanet:2821	\N	\N	"" []	Orphanet:2821	"" []	75733	\N	\N	EFO	0	EFO	Spastic paraplegia - neuropathy - poikiloderma	Spastic paraplegia - neuropathy - poikiloderma
Orphanet:100979	Orphanet:2821	\N	"" []	Orphanet:2821	"" []	218416	\N	\N	EFO	1	EFO	Autosomal dominant complex spastic paraplegia	Spastic paraplegia - neuropathy - poikiloderma
Orphanet:102013	Orphanet:100979	\N	"" []	Orphanet:2821	"" []	573489	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Spastic paraplegia - neuropathy - poikiloderma
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:2821	"" []	1156067	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Spastic paraplegia - neuropathy - poikiloderma
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:2821	"" []	2038949	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Spastic paraplegia - neuropathy - poikiloderma
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2821	"" []	3189221	\N	\N	EFO	5	EFO	neurodegenerative disease	Spastic paraplegia - neuropathy - poikiloderma
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2821	"" []	3189222	\N	\N	EFO	5	EFO	brain disease	Spastic paraplegia - neuropathy - poikiloderma
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2821	"" []	3189223	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spastic paraplegia - neuropathy - poikiloderma
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2821	"" []	4396199	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - neuropathy - poikiloderma
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2821	"" []	4396200	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - neuropathy - poikiloderma
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2821	"" []	4396201	\N	\N	EFO	6	EFO	genetic disorder	Spastic paraplegia - neuropathy - poikiloderma
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2821	"" []	5413952	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - neuropathy - poikiloderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2821	"" []	5413953	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - neuropathy - poikiloderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2821	"" []	6150345	\N	\N	EFO	8	EFO	disposition	Spastic paraplegia - neuropathy - poikiloderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2821	"" []	6633127	\N	\N	EFO	9	EFO	material property	Spastic paraplegia - neuropathy - poikiloderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2821	"" []	6925849	\N	\N	EFO	10	EFO	experimental factor	Spastic paraplegia - neuropathy - poikiloderma
Orphanet:282124	\N	\N	"" []	Orphanet:282124	"" []	75734	\N	\N	EFO	0	EFO	Partial deletion of chromosome 12	Partial deletion of chromosome 12
Orphanet:98142	Orphanet:282124	\N	"" []	Orphanet:282124	"" []	218417	\N	\N	EFO	1	EFO	Partial autosomal monosomy	Partial deletion of chromosome 12
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:282124	"" []	573490	\N	\N	EFO	2	EFO	Autosomal monosomy	Partial deletion of chromosome 12
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:282124	"" []	1156068	\N	\N	EFO	3	EFO	Autosomal anomaly	Partial deletion of chromosome 12
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:282124	"" []	2038950	\N	\N	EFO	4	EFO	Chromosomal anomaly	Partial deletion of chromosome 12
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:282124	"" []	3189224	\N	\N	EFO	5	EFO	genetic disorder	Partial deletion of chromosome 12
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:282124	"" []	4396202	\N	\N	EFO	6	EFO	disease	Partial deletion of chromosome 12
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:282124	"" []	5413954	\N	\N	EFO	7	EFO	disposition	Partial deletion of chromosome 12
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:282124	"" []	6150346	\N	\N	EFO	8	EFO	material property	Partial deletion of chromosome 12
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:282124	"" []	6633128	\N	\N	EFO	9	EFO	experimental factor	Partial deletion of chromosome 12
Orphanet:282166	\N	\N	"" []	Orphanet:282166	"" []	75735	\N	\N	EFO	0	EFO	Inherited Creutzfeldt-Jakob disease	Inherited Creutzfeldt-Jakob disease
Orphanet:307058	Orphanet:282166	\N	"" []	Orphanet:282166	"" []	218418	\N	\N	EFO	1	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Inherited Creutzfeldt-Jakob disease
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:282166	"" []	573491	\N	\N	EFO	2	EFO	neurodegenerative disease	Inherited Creutzfeldt-Jakob disease
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:282166	"" []	573492	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Inherited Creutzfeldt-Jakob disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:282166	"" []	1156069	\N	\N	EFO	3	EFO	nervous system disease	Inherited Creutzfeldt-Jakob disease
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:282166	"" []	1156070	\N	\N	EFO	3	EFO	movement disorder	Inherited Creutzfeldt-Jakob disease
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:282166	"" []	1156071	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Inherited Creutzfeldt-Jakob disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:282166	"" []	3189226	\N	\N	EFO	5	EFO	disease	Inherited Creutzfeldt-Jakob disease
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:282166	"" []	2038952	\N	\N	EFO	4	EFO	nervous system disease	Inherited Creutzfeldt-Jakob disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:282166	"" []	2038953	\N	\N	EFO	4	EFO	genetic disorder	Inherited Creutzfeldt-Jakob disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:282166	"" []	4133762	\N	\N	EFO	6	EFO	disposition	Inherited Creutzfeldt-Jakob disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:282166	"" []	3189227	\N	\N	EFO	5	EFO	disease	Inherited Creutzfeldt-Jakob disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:282166	"" []	5182396	\N	\N	EFO	7	EFO	material property	Inherited Creutzfeldt-Jakob disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:282166	"" []	5997741	\N	\N	EFO	8	EFO	experimental factor	Inherited Creutzfeldt-Jakob disease
Orphanet:2822	\N	\N	"" []	Orphanet:2822	"" []	75736	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 11	Autosomal recessive spastic paraplegia type 11
Orphanet:183763	Orphanet:2822	\N	"" []	Orphanet:2822	"" []	218419	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal recessive spastic paraplegia type 11
Orphanet:320346	Orphanet:2822	\N	"" []	Orphanet:2822	"" []	218420	\N	\N	EFO	1	EFO	Pure or complex autosomal recessive spastic paraplegia	Autosomal recessive spastic paraplegia type 11
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2822	"" []	573493	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Autosomal recessive spastic paraplegia type 11
Orphanet:320335	Orphanet:320346	\N	"" []	Orphanet:2822	"" []	573494	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 11
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2822	"" []	1156072	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 11
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:2822	"" []	1156073	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 11
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2822	"" []	4396207	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 11
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:2822	"" []	2038955	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2822	"" []	5059899	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 11
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2822	"" []	3189229	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 11
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2822	"" []	3189230	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 11
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2822	"" []	3189231	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2822	"" []	5877210	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 11
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2822	"" []	4396205	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 11
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2822	"" []	4396206	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2822	"" []	6470440	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 11
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2822	"" []	5413957	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2822	"" []	6848530	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 11
Orphanet:2823	\N	\N	"" []	Orphanet:2823	"" []	75737	\N	\N	EFO	0	EFO	Paraplegia - brachydactyly - cone-shaped epiphysis	Paraplegia - brachydactyly - cone-shaped epiphysis
Orphanet:69028	Orphanet:2823	\N	"" []	Orphanet:2823	"" []	218421	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Paraplegia - brachydactyly - cone-shaped epiphysis
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:2823	"" []	573495	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Paraplegia - brachydactyly - cone-shaped epiphysis
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:2823	"" []	573496	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Paraplegia - brachydactyly - cone-shaped epiphysis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2823	"" []	1156074	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Paraplegia - brachydactyly - cone-shaped epiphysis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2823	"" []	1156075	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Paraplegia - brachydactyly - cone-shaped epiphysis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2823	"" []	2038956	\N	\N	EFO	4	EFO	Rare genetic bone disease	Paraplegia - brachydactyly - cone-shaped epiphysis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2823	"" []	2038957	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Paraplegia - brachydactyly - cone-shaped epiphysis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2823	"" []	2038958	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Paraplegia - brachydactyly - cone-shaped epiphysis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2823	"" []	3189232	\N	\N	EFO	5	EFO	genetic disorder	Paraplegia - brachydactyly - cone-shaped epiphysis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2823	"" []	3189233	\N	\N	EFO	5	EFO	bone disease	Paraplegia - brachydactyly - cone-shaped epiphysis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2823	"" []	3189234	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Paraplegia - brachydactyly - cone-shaped epiphysis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2823	"" []	4396210	\N	\N	EFO	6	EFO	genetic disorder	Paraplegia - brachydactyly - cone-shaped epiphysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2823	"" []	5182397	\N	\N	EFO	7	EFO	disease	Paraplegia - brachydactyly - cone-shaped epiphysis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2823	"" []	4396209	\N	\N	EFO	6	EFO	skeletal system disease	Paraplegia - brachydactyly - cone-shaped epiphysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2823	"" []	5997742	\N	\N	EFO	8	EFO	disposition	Paraplegia - brachydactyly - cone-shaped epiphysis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2823	"" []	5413959	\N	\N	EFO	7	EFO	disease	Paraplegia - brachydactyly - cone-shaped epiphysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2823	"" []	6551063	\N	\N	EFO	9	EFO	material property	Paraplegia - brachydactyly - cone-shaped epiphysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2823	"" []	6889218	\N	\N	EFO	10	EFO	experimental factor	Paraplegia - brachydactyly - cone-shaped epiphysis
Orphanet:2824	\N	\N	"" []	Orphanet:2824	"" []	75738	\N	\N	EFO	0	EFO	Paraplegia - intellectual disability - hyperkeratosis	Paraplegia - intellectual disability - hyperkeratosis
Orphanet:102283	Orphanet:2824	\N	"" []	Orphanet:2824	"" []	218422	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Paraplegia - intellectual disability - hyperkeratosis
Orphanet:98464	Orphanet:2824	\N	"" []	Orphanet:2824	"" []	218423	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Paraplegia - intellectual disability - hyperkeratosis
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2824	"" []	573497	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Paraplegia - intellectual disability - hyperkeratosis
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2824	"" []	573498	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Paraplegia - intellectual disability - hyperkeratosis
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2824	"" []	1156076	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Paraplegia - intellectual disability - hyperkeratosis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2824	"" []	1156077	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Paraplegia - intellectual disability - hyperkeratosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2824	"" []	2038959	\N	\N	EFO	4	EFO	genetic disorder	Paraplegia - intellectual disability - hyperkeratosis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2824	"" []	2038960	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Paraplegia - intellectual disability - hyperkeratosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2824	"" []	4396212	\N	\N	EFO	6	EFO	disease	Paraplegia - intellectual disability - hyperkeratosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2824	"" []	3189237	\N	\N	EFO	5	EFO	genetic disorder	Paraplegia - intellectual disability - hyperkeratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2824	"" []	5182398	\N	\N	EFO	7	EFO	disposition	Paraplegia - intellectual disability - hyperkeratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2824	"" []	5997743	\N	\N	EFO	8	EFO	material property	Paraplegia - intellectual disability - hyperkeratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2824	"" []	6551064	\N	\N	EFO	9	EFO	experimental factor	Paraplegia - intellectual disability - hyperkeratosis
Orphanet:2825	\N	\N	"" []	Orphanet:2825	"" []	75739	\N	\N	EFO	0	EFO	PARC syndrome	PARC syndrome
Orphanet:139039	Orphanet:2825	\N	"" []	Orphanet:2825	"" []	218424	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	PARC syndrome
Orphanet:330206	Orphanet:2825	\N	"" []	Orphanet:2825	"" []	218425	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	PARC syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2825	"" []	573499	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	PARC syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2825	"" []	573500	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	PARC syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2825	"" []	1156078	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	PARC syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2825	"" []	1156079	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	PARC syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2825	"" []	2038961	\N	\N	EFO	4	EFO	Genetic head and neck malformation	PARC syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2825	"" []	4396213	\N	\N	EFO	6	EFO	genetic disorder	PARC syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2825	"" []	3189238	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	PARC syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2825	"" []	5059900	\N	\N	EFO	7	EFO	disease	PARC syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2825	"" []	5877211	\N	\N	EFO	8	EFO	disposition	PARC syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2825	"" []	6470441	\N	\N	EFO	9	EFO	material property	PARC syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2825	"" []	6848531	\N	\N	EFO	10	EFO	experimental factor	PARC syndrome
Orphanet:2826	\N	\N	"" []	Orphanet:2826	"" []	75740	\N	\N	EFO	0	EFO	Spastic paraplegia - precocious puberty	Spastic paraplegia - precocious puberty
Orphanet:100979	Orphanet:2826	\N	"" []	Orphanet:2826	"" []	218426	\N	\N	EFO	1	EFO	Autosomal dominant complex spastic paraplegia	Spastic paraplegia - precocious puberty
Orphanet:102013	Orphanet:100979	\N	"" []	Orphanet:2826	"" []	573501	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Spastic paraplegia - precocious puberty
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:2826	"" []	1156080	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Spastic paraplegia - precocious puberty
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:2826	"" []	2038963	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Spastic paraplegia - precocious puberty
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2826	"" []	3189240	\N	\N	EFO	5	EFO	neurodegenerative disease	Spastic paraplegia - precocious puberty
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2826	"" []	3189241	\N	\N	EFO	5	EFO	brain disease	Spastic paraplegia - precocious puberty
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2826	"" []	3189242	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spastic paraplegia - precocious puberty
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2826	"" []	4396215	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - precocious puberty
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2826	"" []	4396216	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - precocious puberty
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2826	"" []	4396217	\N	\N	EFO	6	EFO	genetic disorder	Spastic paraplegia - precocious puberty
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2826	"" []	5413962	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - precocious puberty
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2826	"" []	5413963	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - precocious puberty
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2826	"" []	6150351	\N	\N	EFO	8	EFO	disposition	Spastic paraplegia - precocious puberty
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2826	"" []	6633130	\N	\N	EFO	9	EFO	material property	Spastic paraplegia - precocious puberty
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2826	"" []	6925850	\N	\N	EFO	10	EFO	experimental factor	Spastic paraplegia - precocious puberty
Orphanet:2828	\N	\N	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	75741	\N	\N	EFO	0	EFO	Young adult-onset Parkinsonism	Young adult-onset Parkinsonism
Orphanet:307055	Orphanet:2828	\N	"" []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	218427	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Young adult-onset Parkinsonism
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	573502	\N	\N	EFO	2	EFO	neurodegenerative disease	Young adult-onset Parkinsonism
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	573503	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Young adult-onset Parkinsonism
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	1156081	\N	\N	EFO	3	EFO	nervous system disease	Young adult-onset Parkinsonism
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	1156082	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Young adult-onset Parkinsonism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	4396219	\N	\N	EFO	6	EFO	disease	Young adult-onset Parkinsonism
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	2038965	\N	\N	EFO	4	EFO	movement disorder	Young adult-onset Parkinsonism
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	2038966	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Young adult-onset Parkinsonism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	5059901	\N	\N	EFO	7	EFO	disposition	Young adult-onset Parkinsonism
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	3189244	\N	\N	EFO	5	EFO	nervous system disease	Young adult-onset Parkinsonism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	3189245	\N	\N	EFO	5	EFO	genetic disorder	Young adult-onset Parkinsonism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	5877212	\N	\N	EFO	8	EFO	material property	Young adult-onset Parkinsonism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	4396220	\N	\N	EFO	6	EFO	disease	Young adult-onset Parkinsonism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2828	"Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." []	6470442	\N	\N	EFO	9	EFO	experimental factor	Young adult-onset Parkinsonism
Orphanet:2831	\N	\N	"" []	Orphanet:2831	"" []	75742	\N	\N	EFO	0	EFO	Rhizomelic dysplasia, Patterson-Lowry type	Rhizomelic dysplasia, Patterson-Lowry type
Orphanet:93438	Orphanet:2831	\N	"" []	Orphanet:2831	"" []	218428	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Rhizomelic dysplasia, Patterson-Lowry type
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:2831	"" []	573504	\N	\N	EFO	2	EFO	Primary bone dysplasia	Rhizomelic dysplasia, Patterson-Lowry type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2831	"" []	1156083	\N	\N	EFO	3	EFO	Rare genetic bone disease	Rhizomelic dysplasia, Patterson-Lowry type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2831	"" []	1156084	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Rhizomelic dysplasia, Patterson-Lowry type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2831	"" []	2038967	\N	\N	EFO	4	EFO	genetic disorder	Rhizomelic dysplasia, Patterson-Lowry type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2831	"" []	2038968	\N	\N	EFO	4	EFO	bone disease	Rhizomelic dysplasia, Patterson-Lowry type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2831	"" []	2038969	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rhizomelic dysplasia, Patterson-Lowry type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2831	"" []	4396223	\N	\N	EFO	6	EFO	disease	Rhizomelic dysplasia, Patterson-Lowry type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2831	"" []	3189247	\N	\N	EFO	5	EFO	skeletal system disease	Rhizomelic dysplasia, Patterson-Lowry type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2831	"" []	3189248	\N	\N	EFO	5	EFO	genetic disorder	Rhizomelic dysplasia, Patterson-Lowry type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2831	"" []	5182399	\N	\N	EFO	7	EFO	disposition	Rhizomelic dysplasia, Patterson-Lowry type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2831	"" []	4396222	\N	\N	EFO	6	EFO	disease	Rhizomelic dysplasia, Patterson-Lowry type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2831	"" []	5997744	\N	\N	EFO	8	EFO	material property	Rhizomelic dysplasia, Patterson-Lowry type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2831	"" []	6551065	\N	\N	EFO	9	EFO	experimental factor	Rhizomelic dysplasia, Patterson-Lowry type
Orphanet:2832	\N	\N	"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." []	Orphanet:2832	"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." []	75743	\N	\N	EFO	0	EFO	Short tarsus - absence of lower eyelashes	Short tarsus - absence of lower eyelashes
Orphanet:330206	Orphanet:2832	\N	"" []	Orphanet:2832	"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." []	218429	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Short tarsus - absence of lower eyelashes
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2832	"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." []	573505	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Short tarsus - absence of lower eyelashes
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2832	"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." []	1156085	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Short tarsus - absence of lower eyelashes
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2832	"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." []	2038970	\N	\N	EFO	4	EFO	genetic disorder	Short tarsus - absence of lower eyelashes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2832	"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." []	3189249	\N	\N	EFO	5	EFO	disease	Short tarsus - absence of lower eyelashes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2832	"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." []	4396224	\N	\N	EFO	6	EFO	disposition	Short tarsus - absence of lower eyelashes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2832	"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." []	5413966	\N	\N	EFO	7	EFO	material property	Short tarsus - absence of lower eyelashes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2832	"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." []	6150353	\N	\N	EFO	8	EFO	experimental factor	Short tarsus - absence of lower eyelashes
Orphanet:2833	\N	\N	"" []	Orphanet:2833	"" []	75744	\N	\N	EFO	0	EFO	Stiff skin syndrome	Stiff skin syndrome
Orphanet:79385	Orphanet:2833	\N	"" []	Orphanet:2833	"" []	218430	\N	\N	EFO	1	EFO	Unclassified genetic skin disorder	Stiff skin syndrome
Orphanet:68346	Orphanet:79385	\N	"" []	Orphanet:2833	"" []	573506	\N	\N	EFO	2	EFO	Rare genetic skin disease	Stiff skin syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2833	"" []	1156086	\N	\N	EFO	3	EFO	genetic disorder	Stiff skin syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2833	"" []	1156087	\N	\N	EFO	3	EFO	skin disease	Stiff skin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2833	"" []	2038971	\N	\N	EFO	4	EFO	disease	Stiff skin syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2833	"" []	2038972	\N	\N	EFO	4	EFO	disease	Stiff skin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2833	"" []	3189250	\N	\N	EFO	5	EFO	disposition	Stiff skin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2833	"" []	4396225	\N	\N	EFO	6	EFO	material property	Stiff skin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2833	"" []	5413967	\N	\N	EFO	7	EFO	experimental factor	Stiff skin syndrome
Orphanet:2834	\N	\N	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	75745	\N	\N	EFO	0	EFO	Wrinkly skin syndrome	Wrinkly skin syndrome
Orphanet:357058	Orphanet:2834	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	218431	\N	\N	EFO	1	EFO	Autosomal recessive cutis laxa type 2A	Wrinkly skin syndrome
Orphanet:309778	Orphanet:357058	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	573507	\N	\N	EFO	2	EFO	Defect in V-ATPase	Wrinkly skin syndrome
Orphanet:371064	Orphanet:357058	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	573508	\N	\N	EFO	2	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Wrinkly skin syndrome
Orphanet:371071	Orphanet:357058	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	573509	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Wrinkly skin syndrome
Orphanet:371195	Orphanet:357058	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	573510	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation-related bone disorder	Wrinkly skin syndrome
Orphanet:371200	Orphanet:357058	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	573511	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with skin involvement	Wrinkly skin syndrome
Orphanet:90350	Orphanet:357058	\N	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	573512	\N	\N	EFO	2	EFO	Autosomal recessive cutis laxa type 2	Wrinkly skin syndrome
Orphanet:309526	Orphanet:309778	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	1156088	\N	\N	EFO	3	EFO	Disorder of multiple glycosylation	Wrinkly skin syndrome
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	1156089	\N	\N	EFO	3	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Wrinkly skin syndrome
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	1156090	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation with neurological involvement	Wrinkly skin syndrome
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	1156091	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation with neurological involvement	Wrinkly skin syndrome
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	1156092	\N	\N	EFO	3	EFO	Rare bone disease related to a common gene or pathway defect	Wrinkly skin syndrome
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	1156093	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation with developmental anomaly	Wrinkly skin syndrome
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	1156094	\N	\N	EFO	3	EFO	Metabolic disease with skin involvement	Wrinkly skin syndrome
Orphanet:209	Orphanet:90350	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	1156095	\N	\N	EFO	3	EFO	Cutis laxa	Wrinkly skin syndrome
Orphanet:289866	Orphanet:90350	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	1156096	\N	\N	EFO	3	EFO	Disorder of proline metabolism	Wrinkly skin syndrome
Orphanet:93446	Orphanet:90350	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	1156097	\N	\N	EFO	3	EFO	Primary bone dysplasia with decreased bone density	Wrinkly skin syndrome
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	2038973	\N	\N	EFO	4	EFO	Congenital disorder of glycosylation	Wrinkly skin syndrome
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	2038974	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Wrinkly skin syndrome
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	2038975	\N	\N	EFO	4	EFO	Neurometabolic disease	Wrinkly skin syndrome
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	2038976	\N	\N	EFO	4	EFO	Rare genetic bone disease	Wrinkly skin syndrome
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	2038977	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Wrinkly skin syndrome
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	2038978	\N	\N	EFO	4	EFO	Rare genetic skin disease	Wrinkly skin syndrome
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	2038979	\N	\N	EFO	4	EFO	Malformation syndrome with skin/mucosae involvement	Wrinkly skin syndrome
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	2038980	\N	\N	EFO	4	EFO	Malformation syndrome with connective tissue involvement	Wrinkly skin syndrome
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	2038981	\N	\N	EFO	4	EFO	Genetic dermis elastic tissue disorder	Wrinkly skin syndrome
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	2038982	\N	\N	EFO	4	EFO	Congenital entropion	Wrinkly skin syndrome
Orphanet:79185	Orphanet:289866	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	2038983	\N	\N	EFO	4	EFO	Disorder of ornithine or proline metabolism	Wrinkly skin syndrome
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	2038984	\N	\N	EFO	4	EFO	Primary bone dysplasia	Wrinkly skin syndrome
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	3189251	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Wrinkly skin syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	3189252	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Wrinkly skin syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	3189253	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Wrinkly skin syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	4396237	\N	\N	EFO	6	EFO	genetic disorder	Wrinkly skin syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	4396238	\N	\N	EFO	6	EFO	bone disease	Wrinkly skin syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	3189256	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Wrinkly skin syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	5413972	\N	\N	EFO	7	EFO	genetic disorder	Wrinkly skin syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	5413973	\N	\N	EFO	7	EFO	skin disease	Wrinkly skin syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	3189259	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Wrinkly skin syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	3189260	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Wrinkly skin syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	3189261	\N	\N	EFO	5	EFO	Genetic dermis disorder	Wrinkly skin syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	3189262	\N	\N	EFO	5	EFO	Eyelids malposition disorder	Wrinkly skin syndrome
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	3189263	\N	\N	EFO	5	EFO	Disorder of amino acid and other organic acid metabolism	Wrinkly skin syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	3189264	\N	\N	EFO	5	EFO	Rare genetic bone disease	Wrinkly skin syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	3189265	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Wrinkly skin syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	5413975	\N	\N	EFO	7	EFO	genetic disorder	Wrinkly skin syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	5413976	\N	\N	EFO	7	EFO	metabolic disease	Wrinkly skin syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	4396228	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Wrinkly skin syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	5413969	\N	\N	EFO	7	EFO	genetic disorder	Wrinkly skin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	6925851	\N	\N	EFO	10	EFO	disease	Wrinkly skin syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	5182401	\N	\N	EFO	7	EFO	skeletal system disease	Wrinkly skin syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	5413977	\N	\N	EFO	7	EFO	genetic disorder	Wrinkly skin syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	5877214	\N	\N	EFO	8	EFO	disease	Wrinkly skin syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	4396234	\N	\N	EFO	6	EFO	Rare genetic skin disease	Wrinkly skin syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	4396235	\N	\N	EFO	6	EFO	Rare palpebral disease	Wrinkly skin syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	4396236	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Wrinkly skin syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	4396239	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Wrinkly skin syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	5997745	\N	\N	EFO	8	EFO	disease	Wrinkly skin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	7029913	\N	\N	EFO	11	EFO	disposition	Wrinkly skin syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	5997747	\N	\N	EFO	8	EFO	disease	Wrinkly skin syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	5413974	\N	\N	EFO	7	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Wrinkly skin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	7181781	\N	\N	EFO	12	EFO	material property	Wrinkly skin syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	6150355	\N	\N	EFO	8	EFO	Rare genetic eye disease	Wrinkly skin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	7279094	\N	\N	EFO	13	EFO	experimental factor	Wrinkly skin syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	6633132	\N	\N	EFO	9	EFO	genetic disorder	Wrinkly skin syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	6633133	\N	\N	EFO	9	EFO	eye disease	Wrinkly skin syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2834	"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." []	6925852	\N	\N	EFO	10	EFO	disease	Wrinkly skin syndrome
Orphanet:2836	\N	\N	"" []	Orphanet:2836	"" []	75746	\N	\N	EFO	0	EFO	PEHO syndrome	PEHO syndrome
Orphanet:166463	Orphanet:2836	\N	"" []	Orphanet:2836	"" []	218432	\N	\N	EFO	1	EFO	Epilepsy syndrome	PEHO syndrome
Orphanet:183500	Orphanet:2836	\N	"" []	Orphanet:2836	"" []	218433	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	PEHO syndrome
Orphanet:89832	Orphanet:2836	\N	"" []	Orphanet:2836	"" []	218434	\N	\N	EFO	1	EFO	Syndromic lymphedema	PEHO syndrome
Orphanet:98677	Orphanet:2836	\N	"" []	Orphanet:2836	"" []	218435	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	PEHO syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:2836	"" []	573513	\N	\N	EFO	2	EFO	Rare genetic epilepsy	PEHO syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2836	"" []	573514	\N	\N	EFO	2	EFO	neurodegenerative disease	PEHO syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:2836	"" []	573515	\N	\N	EFO	2	EFO	brain disease	PEHO syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:2836	"" []	573516	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	PEHO syndrome
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:2836	"" []	573517	\N	\N	EFO	2	EFO	Lymphedema	PEHO syndrome
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:2836	"" []	573518	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	PEHO syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2836	"" []	1156098	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	PEHO syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2836	"" []	1156099	\N	\N	EFO	3	EFO	nervous system disease	PEHO syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2836	"" []	1156100	\N	\N	EFO	3	EFO	nervous system disease	PEHO syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2836	"" []	2038985	\N	\N	EFO	4	EFO	genetic disorder	PEHO syndrome
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:2836	"" []	1156102	\N	\N	EFO	3	EFO	Rare genetic skin disease	PEHO syndrome
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:2836	"" []	1156103	\N	\N	EFO	3	EFO	Genetic optic atrophy	PEHO syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2836	"" []	2038986	\N	\N	EFO	4	EFO	disease	PEHO syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2836	"" []	5413979	\N	\N	EFO	7	EFO	disease	PEHO syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2836	"" []	2038988	\N	\N	EFO	4	EFO	genetic disorder	PEHO syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2836	"" []	2038989	\N	\N	EFO	4	EFO	skin disease	PEHO syndrome
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:2836	"" []	2038990	\N	\N	EFO	4	EFO	Optic neuropathy	PEHO syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2836	"" []	5817672	\N	\N	EFO	8	EFO	disposition	PEHO syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2836	"" []	3189267	\N	\N	EFO	5	EFO	disease	PEHO syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:2836	"" []	3189268	\N	\N	EFO	5	EFO	Rare genetic eye disease	PEHO syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2836	"" []	6410077	\N	\N	EFO	9	EFO	material property	PEHO syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2836	"" []	4396241	\N	\N	EFO	6	EFO	genetic disorder	PEHO syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2836	"" []	4396242	\N	\N	EFO	6	EFO	eye disease	PEHO syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2836	"" []	6807919	\N	\N	EFO	10	EFO	experimental factor	PEHO syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2836	"" []	5413980	\N	\N	EFO	7	EFO	disease	PEHO syndrome
Orphanet:2837	\N	\N	"" []	Orphanet:2837	"" []	75747	\N	\N	EFO	0	EFO	Pellagra-like skin rash - neurological manifestations	Pellagra-like skin rash - neurological manifestations
Orphanet:183490	Orphanet:2837	\N	"" []	Orphanet:2837	"" []	218436	\N	\N	EFO	1	EFO	Genetic photodermatosis	Pellagra-like skin rash - neurological manifestations
Orphanet:289829	Orphanet:2837	\N	"" []	Orphanet:2837	"" []	218437	\N	\N	EFO	1	EFO	Disorder of tryptophan metabolism	Pellagra-like skin rash - neurological manifestations
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:2837	"" []	573519	\N	\N	EFO	2	EFO	Rare genetic skin disease	Pellagra-like skin rash - neurological manifestations
Orphanet:79062	Orphanet:289829	\N	"" []	Orphanet:2837	"" []	573520	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Pellagra-like skin rash - neurological manifestations
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2837	"" []	1156104	\N	\N	EFO	3	EFO	genetic disorder	Pellagra-like skin rash - neurological manifestations
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2837	"" []	1156105	\N	\N	EFO	3	EFO	skin disease	Pellagra-like skin rash - neurological manifestations
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2837	"" []	1156106	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Pellagra-like skin rash - neurological manifestations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2837	"" []	3189270	\N	\N	EFO	5	EFO	disease	Pellagra-like skin rash - neurological manifestations
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2837	"" []	2038992	\N	\N	EFO	4	EFO	disease	Pellagra-like skin rash - neurological manifestations
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2837	"" []	2038993	\N	\N	EFO	4	EFO	genetic disorder	Pellagra-like skin rash - neurological manifestations
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2837	"" []	2038994	\N	\N	EFO	4	EFO	metabolic disease	Pellagra-like skin rash - neurological manifestations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2837	"" []	4133764	\N	\N	EFO	6	EFO	disposition	Pellagra-like skin rash - neurological manifestations
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2837	"" []	3189271	\N	\N	EFO	5	EFO	disease	Pellagra-like skin rash - neurological manifestations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2837	"" []	5182403	\N	\N	EFO	7	EFO	material property	Pellagra-like skin rash - neurological manifestations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2837	"" []	5997749	\N	\N	EFO	8	EFO	experimental factor	Pellagra-like skin rash - neurological manifestations
Orphanet:28378	\N	\N	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	75748	\N	\N	EFO	0	EFO	Tyrosinemia type 2	Tyrosinemia type 2
Orphanet:284818	Orphanet:28378	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	218438	\N	\N	EFO	1	EFO	Disorder of tyrosine metabolism	Tyrosinemia type 2
Orphanet:98357	Orphanet:28378	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	218439	\N	\N	EFO	1	EFO	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature	Tyrosinemia type 2
Orphanet:98699	Orphanet:28378	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	218440	\N	\N	EFO	1	EFO	Syndromic ichthyosis associated with ocular features	Tyrosinemia type 2
Orphanet:98711	Orphanet:28378	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	218441	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Tyrosinemia type 2
Orphanet:79190	Orphanet:284818	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	573521	\N	\N	EFO	2	EFO	Disorder of phenylalanin or tyrosine metabolism	Tyrosinemia type 2
Orphanet:307871	Orphanet:98357	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	573522	\N	\N	EFO	2	EFO	Disease with focal palmoplantar keratoderma as a major feature	Tyrosinemia type 2
Orphanet:98697	Orphanet:98699	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	573523	\N	\N	EFO	2	EFO	Genetic keratinization disorder associated with ocular features	Tyrosinemia type 2
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	573524	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Tyrosinemia type 2
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	1156107	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Tyrosinemia type 2
Orphanet:307837	Orphanet:307871	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	1156108	\N	\N	EFO	3	EFO	Focal palmoplantar keratoderma	Tyrosinemia type 2
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	1156109	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Tyrosinemia type 2
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	1156110	\N	\N	EFO	3	EFO	Rare genetic eye disease	Tyrosinemia type 2
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	2038995	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Tyrosinemia type 2
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	2038996	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Tyrosinemia type 2
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	2038997	\N	\N	EFO	4	EFO	Rare genetic eye disease	Tyrosinemia type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	3189275	\N	\N	EFO	5	EFO	genetic disorder	Tyrosinemia type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	3189276	\N	\N	EFO	5	EFO	eye disease	Tyrosinemia type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	3189272	\N	\N	EFO	5	EFO	genetic disorder	Tyrosinemia type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	3189273	\N	\N	EFO	5	EFO	metabolic disease	Tyrosinemia type 2
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	3189274	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Tyrosinemia type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	6150356	\N	\N	EFO	8	EFO	disease	Tyrosinemia type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	4133766	\N	\N	EFO	6	EFO	disease	Tyrosinemia type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	4396244	\N	\N	EFO	6	EFO	disease	Tyrosinemia type 2
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	4396245	\N	\N	EFO	6	EFO	Rare genetic skin disease	Tyrosinemia type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	6410078	\N	\N	EFO	9	EFO	disposition	Tyrosinemia type 2
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	5413982	\N	\N	EFO	7	EFO	genetic disorder	Tyrosinemia type 2
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	5413983	\N	\N	EFO	7	EFO	skin disease	Tyrosinemia type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	6807920	\N	\N	EFO	10	EFO	material property	Tyrosinemia type 2
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	6150357	\N	\N	EFO	8	EFO	disease	Tyrosinemia type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:28378	"Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." []	7048666	\N	\N	EFO	11	EFO	experimental factor	Tyrosinemia type 2
Orphanet:2839	\N	\N	"" []	Orphanet:2839	"" []	75749	\N	\N	EFO	0	EFO	Pelvis-shoulder dysplasia	Pelvis-shoulder dysplasia
Orphanet:404574	Orphanet:2839	\N	"" []	Orphanet:2839	"" []	218442	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Pelvis-shoulder dysplasia
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2839	"" []	573525	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Pelvis-shoulder dysplasia
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2839	"" []	573526	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Pelvis-shoulder dysplasia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2839	"" []	1156111	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Pelvis-shoulder dysplasia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2839	"" []	1156112	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Pelvis-shoulder dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2839	"" []	2039000	\N	\N	EFO	4	EFO	Rare genetic bone disease	Pelvis-shoulder dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2839	"" []	2039001	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Pelvis-shoulder dysplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2839	"" []	2039002	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pelvis-shoulder dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2839	"" []	3189279	\N	\N	EFO	5	EFO	genetic disorder	Pelvis-shoulder dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2839	"" []	3189280	\N	\N	EFO	5	EFO	bone disease	Pelvis-shoulder dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2839	"" []	3189281	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pelvis-shoulder dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2839	"" []	4396249	\N	\N	EFO	6	EFO	genetic disorder	Pelvis-shoulder dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2839	"" []	5182405	\N	\N	EFO	7	EFO	disease	Pelvis-shoulder dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2839	"" []	4396248	\N	\N	EFO	6	EFO	skeletal system disease	Pelvis-shoulder dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2839	"" []	5997751	\N	\N	EFO	8	EFO	disposition	Pelvis-shoulder dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2839	"" []	5413986	\N	\N	EFO	7	EFO	disease	Pelvis-shoulder dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2839	"" []	6551068	\N	\N	EFO	9	EFO	material property	Pelvis-shoulder dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2839	"" []	6889220	\N	\N	EFO	10	EFO	experimental factor	Pelvis-shoulder dysplasia
Orphanet:2840	\N	\N	"" []	Orphanet:2840	"" []	75750	\N	\N	EFO	0	EFO	Pelvic dysplasia - arthrogryposis of lower limbs	Pelvic dysplasia - arthrogryposis of lower limbs
Orphanet:93454	Orphanet:2840	\N	"" []	Orphanet:2840	"" []	218443	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Pelvic dysplasia - arthrogryposis of lower limbs
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:2840	"" []	573527	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Pelvic dysplasia - arthrogryposis of lower limbs
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2840	"" []	1156113	\N	\N	EFO	3	EFO	Rare genetic bone disease	Pelvic dysplasia - arthrogryposis of lower limbs
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2840	"" []	1156114	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Pelvic dysplasia - arthrogryposis of lower limbs
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2840	"" []	2039003	\N	\N	EFO	4	EFO	genetic disorder	Pelvic dysplasia - arthrogryposis of lower limbs
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2840	"" []	2039004	\N	\N	EFO	4	EFO	bone disease	Pelvic dysplasia - arthrogryposis of lower limbs
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2840	"" []	2039005	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pelvic dysplasia - arthrogryposis of lower limbs
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2840	"" []	4396252	\N	\N	EFO	6	EFO	disease	Pelvic dysplasia - arthrogryposis of lower limbs
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2840	"" []	3189284	\N	\N	EFO	5	EFO	skeletal system disease	Pelvic dysplasia - arthrogryposis of lower limbs
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2840	"" []	3189285	\N	\N	EFO	5	EFO	genetic disorder	Pelvic dysplasia - arthrogryposis of lower limbs
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2840	"" []	5182406	\N	\N	EFO	7	EFO	disposition	Pelvic dysplasia - arthrogryposis of lower limbs
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2840	"" []	4396251	\N	\N	EFO	6	EFO	disease	Pelvic dysplasia - arthrogryposis of lower limbs
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2840	"" []	5997752	\N	\N	EFO	8	EFO	material property	Pelvic dysplasia - arthrogryposis of lower limbs
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2840	"" []	6551069	\N	\N	EFO	9	EFO	experimental factor	Pelvic dysplasia - arthrogryposis of lower limbs
Orphanet:2841	\N	\N	"" []	Orphanet:2841	"" []	75751	\N	\N	EFO	0	EFO	Familial benign chronic pemphigus	Familial benign chronic pemphigus
Orphanet:183426	Orphanet:2841	\N	"" []	Orphanet:2841	"" []	218444	\N	\N	EFO	1	EFO	Genetic epidermal disorder	Familial benign chronic pemphigus
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2841	"" []	573528	\N	\N	EFO	2	EFO	Rare genetic skin disease	Familial benign chronic pemphigus
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2841	"" []	1156115	\N	\N	EFO	3	EFO	genetic disorder	Familial benign chronic pemphigus
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2841	"" []	1156116	\N	\N	EFO	3	EFO	skin disease	Familial benign chronic pemphigus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2841	"" []	2039006	\N	\N	EFO	4	EFO	disease	Familial benign chronic pemphigus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2841	"" []	2039007	\N	\N	EFO	4	EFO	disease	Familial benign chronic pemphigus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2841	"" []	3189286	\N	\N	EFO	5	EFO	disposition	Familial benign chronic pemphigus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2841	"" []	4396253	\N	\N	EFO	6	EFO	material property	Familial benign chronic pemphigus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2841	"" []	5413988	\N	\N	EFO	7	EFO	experimental factor	Familial benign chronic pemphigus
Orphanet:284139	\N	\N	"" []	Orphanet:284139	"" []	75752	\N	\N	EFO	0	EFO	Larsen-like syndrome, B3GAT3 type	Larsen-like syndrome, B3GAT3 type
Orphanet:139030	Orphanet:284139	\N	"" []	Orphanet:284139	"" []	218445	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Larsen-like syndrome, B3GAT3 type
Orphanet:309450	Orphanet:284139	\N	"" []	Orphanet:284139	"" []	218446	\N	\N	EFO	1	EFO	Disorder of O-xylosylglycan synthesis	Larsen-like syndrome, B3GAT3 type
Orphanet:371183	Orphanet:284139	\N	"" []	Orphanet:284139	"" []	218447	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with cardiac malformation as a major feature	Larsen-like syndrome, B3GAT3 type
Orphanet:371195	Orphanet:284139	\N	"" []	Orphanet:284139	"" []	218448	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation-related bone disorder	Larsen-like syndrome, B3GAT3 type
Orphanet:93441	Orphanet:284139	\N	"" []	Orphanet:284139	"" []	218449	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Larsen-like syndrome, B3GAT3 type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:284139	"" []	573529	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Larsen-like syndrome, B3GAT3 type
Orphanet:309447	Orphanet:309450	\N	"" []	Orphanet:284139	"" []	573530	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Larsen-like syndrome, B3GAT3 type
Orphanet:156532	Orphanet:371183	\N	"" []	Orphanet:284139	"" []	573531	\N	\N	EFO	2	EFO	Rare syndrome with cardiac malformations	Larsen-like syndrome, B3GAT3 type
Orphanet:371235	Orphanet:371183	\N	"" []	Orphanet:284139	"" []	573532	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Larsen-like syndrome, B3GAT3 type
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:284139	"" []	573533	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Larsen-like syndrome, B3GAT3 type
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:284139	"" []	573534	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Larsen-like syndrome, B3GAT3 type
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:284139	"" []	573535	\N	\N	EFO	2	EFO	Primary bone dysplasia	Larsen-like syndrome, B3GAT3 type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284139	"" []	3189292	\N	\N	EFO	5	EFO	genetic disorder	Larsen-like syndrome, B3GAT3 type
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:284139	"" []	1156118	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Larsen-like syndrome, B3GAT3 type
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:284139	"" []	1156119	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Larsen-like syndrome, B3GAT3 type
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:284139	"" []	1156120	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Larsen-like syndrome, B3GAT3 type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:284139	"" []	1156121	\N	\N	EFO	3	EFO	Rare genetic bone disease	Larsen-like syndrome, B3GAT3 type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:284139	"" []	1156122	\N	\N	EFO	3	EFO	Rare genetic bone disease	Larsen-like syndrome, B3GAT3 type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:284139	"" []	1156123	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Larsen-like syndrome, B3GAT3 type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284139	"" []	4066911	\N	\N	EFO	6	EFO	disease	Larsen-like syndrome, B3GAT3 type
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:284139	"" []	2039009	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Larsen-like syndrome, B3GAT3 type
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284139	"" []	2039010	\N	\N	EFO	4	EFO	genetic disorder	Larsen-like syndrome, B3GAT3 type
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:284139	"" []	2039011	\N	\N	EFO	4	EFO	heart disease	Larsen-like syndrome, B3GAT3 type
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:284139	"" []	2039012	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Larsen-like syndrome, B3GAT3 type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284139	"" []	2039013	\N	\N	EFO	4	EFO	genetic disorder	Larsen-like syndrome, B3GAT3 type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:284139	"" []	2039014	\N	\N	EFO	4	EFO	bone disease	Larsen-like syndrome, B3GAT3 type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:284139	"" []	2039015	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Larsen-like syndrome, B3GAT3 type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284139	"" []	5059902	\N	\N	EFO	7	EFO	disposition	Larsen-like syndrome, B3GAT3 type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284139	"" []	3189288	\N	\N	EFO	5	EFO	genetic disorder	Larsen-like syndrome, B3GAT3 type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:284139	"" []	3189289	\N	\N	EFO	5	EFO	metabolic disease	Larsen-like syndrome, B3GAT3 type
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:284139	"" []	3189291	\N	\N	EFO	5	EFO	cardiovascular disease	Larsen-like syndrome, B3GAT3 type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:284139	"" []	3189293	\N	\N	EFO	5	EFO	skeletal system disease	Larsen-like syndrome, B3GAT3 type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284139	"" []	5877215	\N	\N	EFO	8	EFO	material property	Larsen-like syndrome, B3GAT3 type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284139	"" []	4396255	\N	\N	EFO	6	EFO	disease	Larsen-like syndrome, B3GAT3 type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284139	"" []	4396256	\N	\N	EFO	6	EFO	disease	Larsen-like syndrome, B3GAT3 type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284139	"" []	4396257	\N	\N	EFO	6	EFO	disease	Larsen-like syndrome, B3GAT3 type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284139	"" []	6470444	\N	\N	EFO	9	EFO	experimental factor	Larsen-like syndrome, B3GAT3 type
Orphanet:284149	\N	\N	"" []	Orphanet:284149	"" []	75753	\N	\N	EFO	0	EFO	Craniosynostosis and dental anomalies	Craniosynostosis and dental anomalies
Orphanet:139393	Orphanet:284149	\N	"" []	Orphanet:284149	"" []	218450	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniosynostosis and dental anomalies
Orphanet:183580	Orphanet:284149	\N	"" []	Orphanet:284149	"" []	218451	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Craniosynostosis and dental anomalies
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:284149	"" []	573536	\N	\N	EFO	2	EFO	Craniosynostosis	Craniosynostosis and dental anomalies
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:284149	"" []	573537	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis and dental anomalies
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:284149	"" []	1156124	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniosynostosis and dental anomalies
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:284149	"" []	1156125	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniosynostosis and dental anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284149	"" []	4396259	\N	\N	EFO	6	EFO	genetic disorder	Craniosynostosis and dental anomalies
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:284149	"" []	2039016	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis and dental anomalies
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:284149	"" []	2039017	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniosynostosis and dental anomalies
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:284149	"" []	2039018	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniosynostosis and dental anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284149	"" []	5028433	\N	\N	EFO	7	EFO	disease	Craniosynostosis and dental anomalies
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284149	"" []	3189295	\N	\N	EFO	5	EFO	genetic disorder	Craniosynostosis and dental anomalies
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:284149	"" []	3189296	\N	\N	EFO	5	EFO	bone disease	Craniosynostosis and dental anomalies
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:284149	"" []	3189297	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis and dental anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284149	"" []	5817673	\N	\N	EFO	8	EFO	disposition	Craniosynostosis and dental anomalies
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:284149	"" []	4396258	\N	\N	EFO	6	EFO	skeletal system disease	Craniosynostosis and dental anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284149	"" []	6410079	\N	\N	EFO	9	EFO	material property	Craniosynostosis and dental anomalies
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284149	"" []	5413990	\N	\N	EFO	7	EFO	disease	Craniosynostosis and dental anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284149	"" []	6807921	\N	\N	EFO	10	EFO	experimental factor	Craniosynostosis and dental anomalies
Orphanet:284160	\N	\N	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	75754	\N	\N	EFO	0	EFO	8q21.11 microdeletion syndrome	8q21.11 microdeletion syndrome
Orphanet:102283	Orphanet:284160	\N	"" []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	218452	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	8q21.11 microdeletion syndrome
Orphanet:183763	Orphanet:284160	\N	"" []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	218453	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	8q21.11 microdeletion syndrome
Orphanet:262065	Orphanet:284160	\N	"" []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	218454	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 8	8q21.11 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	573538	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	8q21.11 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	573539	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	8q21.11 microdeletion syndrome
Orphanet:261801	Orphanet:262065	\N	"" []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	573540	\N	\N	EFO	2	EFO	Partial deletion of chromosome 8	8q21.11 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	1156127	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	8q21.11 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	1156128	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	8q21.11 microdeletion syndrome
Orphanet:98142	Orphanet:261801	\N	"" []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	1156129	\N	\N	EFO	3	EFO	Partial autosomal monosomy	8q21.11 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	2039020	\N	\N	EFO	4	EFO	genetic disorder	8q21.11 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	2039021	\N	\N	EFO	4	EFO	genetic disorder	8q21.11 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	2039022	\N	\N	EFO	4	EFO	Autosomal monosomy	8q21.11 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	6150362	\N	\N	EFO	8	EFO	disease	8q21.11 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	3189300	\N	\N	EFO	5	EFO	Autosomal anomaly	8q21.11 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	6410080	\N	\N	EFO	9	EFO	disposition	8q21.11 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	4396262	\N	\N	EFO	6	EFO	Chromosomal anomaly	8q21.11 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	6807922	\N	\N	EFO	10	EFO	material property	8q21.11 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	5413993	\N	\N	EFO	7	EFO	genetic disorder	8q21.11 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284160	"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." []	7048667	\N	\N	EFO	11	EFO	experimental factor	8q21.11 microdeletion syndrome
Orphanet:284169	\N	\N	"" []	Orphanet:284169	"" []	75755	\N	\N	EFO	0	EFO	10p11.21p12.31 microdeletion syndrome	10p11.21p12.31 microdeletion syndrome
Orphanet:261938	Orphanet:284169	\N	"" []	Orphanet:284169	"" []	218455	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 10	10p11.21p12.31 microdeletion syndrome
Orphanet:330197	Orphanet:284169	\N	"" []	Orphanet:284169	"" []	218456	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	10p11.21p12.31 microdeletion syndrome
Orphanet:261811	Orphanet:261938	\N	"" []	Orphanet:284169	"" []	573541	\N	\N	EFO	2	EFO	Partial deletion of chromosome 10	10p11.21p12.31 microdeletion syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:284169	"" []	573542	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	10p11.21p12.31 microdeletion syndrome
Orphanet:98142	Orphanet:261811	\N	"" []	Orphanet:284169	"" []	1156130	\N	\N	EFO	3	EFO	Partial autosomal monosomy	10p11.21p12.31 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:284169	"" []	1156131	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	10p11.21p12.31 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:284169	"" []	2039023	\N	\N	EFO	4	EFO	Autosomal monosomy	10p11.21p12.31 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284169	"" []	2039024	\N	\N	EFO	4	EFO	genetic disorder	10p11.21p12.31 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:284169	"" []	3189301	\N	\N	EFO	5	EFO	Autosomal anomaly	10p11.21p12.31 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284169	"" []	6150363	\N	\N	EFO	8	EFO	disease	10p11.21p12.31 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:284169	"" []	4396263	\N	\N	EFO	6	EFO	Chromosomal anomaly	10p11.21p12.31 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284169	"" []	6410081	\N	\N	EFO	9	EFO	disposition	10p11.21p12.31 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284169	"" []	5413994	\N	\N	EFO	7	EFO	genetic disorder	10p11.21p12.31 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284169	"" []	6807923	\N	\N	EFO	10	EFO	material property	10p11.21p12.31 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284169	"" []	7048668	\N	\N	EFO	11	EFO	experimental factor	10p11.21p12.31 microdeletion syndrome
Orphanet:284180	\N	\N	"" []	Orphanet:284180	"" []	75756	\N	\N	EFO	0	EFO	Xp22.13p22.2 duplication syndrome	Xp22.13p22.2 duplication syndrome
Orphanet:102283	Orphanet:284180	\N	"" []	Orphanet:284180	"" []	218457	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Xp22.13p22.2 duplication syndrome
Orphanet:183763	Orphanet:284180	\N	"" []	Orphanet:284180	"" []	218458	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Xp22.13p22.2 duplication syndrome
Orphanet:263775	Orphanet:284180	\N	"" []	Orphanet:284180	"" []	218459	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome X	Xp22.13p22.2 duplication syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:284180	"" []	573543	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Xp22.13p22.2 duplication syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:284180	"" []	573544	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Xp22.13p22.2 duplication syndrome
Orphanet:263768	Orphanet:263775	\N	"" []	Orphanet:284180	"" []	573545	\N	\N	EFO	2	EFO	Partial duplication of chromosome X	Xp22.13p22.2 duplication syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:284180	"" []	1156132	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xp22.13p22.2 duplication syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:284180	"" []	1156133	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Xp22.13p22.2 duplication syndrome
Orphanet:98159	Orphanet:263768	\N	"" []	Orphanet:284180	"" []	1156134	\N	\N	EFO	3	EFO	Chromosome X structural anomaly	Xp22.13p22.2 duplication syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284180	"" []	2039025	\N	\N	EFO	4	EFO	genetic disorder	Xp22.13p22.2 duplication syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284180	"" []	2039026	\N	\N	EFO	4	EFO	genetic disorder	Xp22.13p22.2 duplication syndrome
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:284180	"" []	2039027	\N	\N	EFO	4	EFO	Gonosome structural anomaly	Xp22.13p22.2 duplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284180	"" []	6150366	\N	\N	EFO	8	EFO	disease	Xp22.13p22.2 duplication syndrome
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:284180	"" []	3189304	\N	\N	EFO	5	EFO	Gonosome anomaly	Xp22.13p22.2 duplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284180	"" []	6410082	\N	\N	EFO	9	EFO	disposition	Xp22.13p22.2 duplication syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:284180	"" []	4396266	\N	\N	EFO	6	EFO	Chromosomal anomaly	Xp22.13p22.2 duplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284180	"" []	6807924	\N	\N	EFO	10	EFO	material property	Xp22.13p22.2 duplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284180	"" []	5413997	\N	\N	EFO	7	EFO	genetic disorder	Xp22.13p22.2 duplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284180	"" []	7048669	\N	\N	EFO	11	EFO	experimental factor	Xp22.13p22.2 duplication syndrome
Orphanet:284232	\N	\N	"" []	Orphanet:284232	"" []	75757	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2O	Autosomal dominant Charcot-Marie-Tooth disease type 2O
Orphanet:64746	Orphanet:284232	\N	"" []	Orphanet:284232	"" []	218460	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2O
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:284232	"" []	573546	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2O
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:284232	"" []	573547	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2O
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:284232	"" []	1156135	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2O
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:284232	"" []	1156136	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2O
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:284232	"" []	2039028	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2O
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:284232	"" []	2039029	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2O
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:284232	"" []	3189306	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2O
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:284232	"" []	3189305	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2O
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284232	"" []	4133768	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2O
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:284232	"" []	4396267	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2O
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284232	"" []	5182408	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2O
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284232	"" []	5413998	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2O
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284232	"" []	5997754	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2O
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284232	"" []	6551070	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2O
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284232	"" []	6889221	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2O
Orphanet:284247	\N	\N	"" []	Orphanet:284247	"" []	75758	\N	\N	EFO	0	EFO	Familial retinal arterial macroaneurysm	Familial retinal arterial macroaneurysm
Orphanet:156532	Orphanet:284247	\N	"" []	Orphanet:284247	"" []	218461	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Familial retinal arterial macroaneurysm
Orphanet:98657	Orphanet:284247	\N	"" []	Orphanet:284247	"" []	218462	\N	\N	EFO	1	EFO	Genetic vitreous-retinal disease	Familial retinal arterial macroaneurysm
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:284247	"" []	573548	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Familial retinal arterial macroaneurysm
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:284247	"" []	573549	\N	\N	EFO	2	EFO	Rare genetic eye disease	Familial retinal arterial macroaneurysm
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284247	"" []	1156137	\N	\N	EFO	3	EFO	genetic disorder	Familial retinal arterial macroaneurysm
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:284247	"" []	1156138	\N	\N	EFO	3	EFO	heart disease	Familial retinal arterial macroaneurysm
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284247	"" []	1156139	\N	\N	EFO	3	EFO	genetic disorder	Familial retinal arterial macroaneurysm
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:284247	"" []	1156140	\N	\N	EFO	3	EFO	eye disease	Familial retinal arterial macroaneurysm
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284247	"" []	2039031	\N	\N	EFO	4	EFO	disease	Familial retinal arterial macroaneurysm
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:284247	"" []	2039032	\N	\N	EFO	4	EFO	cardiovascular disease	Familial retinal arterial macroaneurysm
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284247	"" []	2039033	\N	\N	EFO	4	EFO	disease	Familial retinal arterial macroaneurysm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284247	"" []	4396270	\N	\N	EFO	6	EFO	disposition	Familial retinal arterial macroaneurysm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284247	"" []	3189309	\N	\N	EFO	5	EFO	disease	Familial retinal arterial macroaneurysm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284247	"" []	5182409	\N	\N	EFO	7	EFO	material property	Familial retinal arterial macroaneurysm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284247	"" []	5997755	\N	\N	EFO	8	EFO	experimental factor	Familial retinal arterial macroaneurysm
Orphanet:284271	\N	\N	"" []	Orphanet:284271	"" []	75759	\N	\N	EFO	0	EFO	Autosomal recessive cerebellar ataxia - psychomotor retardation	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:98099	Orphanet:284271	\N	"" []	Orphanet:284271	"" []	218463	\N	\N	EFO	1	EFO	Autosomal recessive syndromic cerebellar ataxia	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:1172	Orphanet:98099	\N	"" []	Orphanet:284271	"" []	573550	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:284271	"" []	1156141	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:284271	"" []	1156142	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:284271	"" []	1156143	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:284271	"" []	2039034	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:284271	"" []	2039035	\N	\N	EFO	4	EFO	Ataxia with dementia	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:284271	"" []	2039036	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Autosomal recessive cerebellar ataxia - psychomotor retardation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284271	"" []	6150370	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:284271	"" []	3189311	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:284271	"" []	3189312	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive cerebellar ataxia - psychomotor retardation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284271	"" []	6410083	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:284271	"" []	4396272	\N	\N	EFO	6	EFO	Genetic dementia	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:284271	"" []	4396273	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:284271	"" []	4396274	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive cerebellar ataxia - psychomotor retardation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284271	"" []	6807925	\N	\N	EFO	10	EFO	disposition	Autosomal recessive cerebellar ataxia - psychomotor retardation
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:284271	"" []	5414002	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:284271	"" []	5414003	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia - psychomotor retardation
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:284271	"" []	5414004	\N	\N	EFO	7	EFO	neurodegenerative disease	Autosomal recessive cerebellar ataxia - psychomotor retardation
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:284271	"" []	5414005	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:284271	"" []	5414006	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia - psychomotor retardation
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284271	"" []	5414007	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cerebellar ataxia - psychomotor retardation
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:284271	"" []	5414008	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive cerebellar ataxia - psychomotor retardation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284271	"" []	7048670	\N	\N	EFO	11	EFO	material property	Autosomal recessive cerebellar ataxia - psychomotor retardation
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:284271	"" []	6150369	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia - psychomotor retardation
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:284271	"" []	6150371	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia - psychomotor retardation
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284271	"" []	6150373	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebellar ataxia - psychomotor retardation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284271	"" []	7190229	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive cerebellar ataxia - psychomotor retardation
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284271	"" []	6633137	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia - psychomotor retardation
Orphanet:284282	\N	\N	"" []	Orphanet:284282	"" []	75760	\N	\N	EFO	0	EFO	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:404481	Orphanet:284282	\N	"" []	Orphanet:284282	"" []	218464	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:1172	Orphanet:404481	\N	"" []	Orphanet:284282	"" []	573551	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:166472	Orphanet:404481	\N	"" []	Orphanet:284282	"" []	573552	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:183763	Orphanet:404481	\N	"" []	Orphanet:284282	"" []	573553	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:284282	"" []	1156144	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:284282	"" []	1156145	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:284282	"" []	1156146	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:284282	"" []	1156147	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:284282	"" []	1156148	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:284282	"" []	2039037	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:284282	"" []	2039038	\N	\N	EFO	4	EFO	Ataxia with dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:284282	"" []	2039039	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:284282	"" []	2039040	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:284282	"" []	2039041	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284282	"" []	6150376	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:284282	"" []	3189314	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:284282	"" []	3189315	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284282	"" []	6410084	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:284282	"" []	4396276	\N	\N	EFO	6	EFO	Genetic dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:284282	"" []	4396277	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:284282	"" []	4396278	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284282	"" []	6807926	\N	\N	EFO	10	EFO	disposition	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:284282	"" []	5414010	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:284282	"" []	5414011	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:284282	"" []	5414012	\N	\N	EFO	7	EFO	neurodegenerative disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:284282	"" []	5414013	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:284282	"" []	5414014	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284282	"" []	5414015	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:284282	"" []	5414016	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284282	"" []	7048671	\N	\N	EFO	11	EFO	material property	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:284282	"" []	6150375	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:284282	"" []	6150377	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284282	"" []	6150379	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284282	"" []	7190230	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284282	"" []	6633139	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Orphanet:284289	\N	\N	"" []	Orphanet:284289	"" []	75761	\N	\N	EFO	0	EFO	Adult-onset autosomal recessive cerebellar ataxia	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:1172	Orphanet:284289	\N	"" []	Orphanet:284289	"" []	218465	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:284289	"" []	573554	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:284289	"" []	573555	\N	\N	EFO	2	EFO	Early-onset ataxia with dementia	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:284289	"" []	573556	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:284289	"" []	1156149	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:284289	"" []	1156150	\N	\N	EFO	3	EFO	Ataxia with dementia	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:284289	"" []	1156151	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Adult-onset autosomal recessive cerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284289	"" []	5414019	\N	\N	EFO	7	EFO	genetic disorder	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:284289	"" []	2039043	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:284289	"" []	2039044	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Adult-onset autosomal recessive cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284289	"" []	5817674	\N	\N	EFO	8	EFO	disease	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:284289	"" []	3189317	\N	\N	EFO	5	EFO	Genetic dementia	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:284289	"" []	3189318	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:284289	"" []	3189319	\N	\N	EFO	5	EFO	Rare genetic eye disease	Adult-onset autosomal recessive cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284289	"" []	6410085	\N	\N	EFO	9	EFO	disposition	Adult-onset autosomal recessive cerebellar ataxia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:284289	"" []	4396280	\N	\N	EFO	6	EFO	brain disease	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:284289	"" []	4396281	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Adult-onset autosomal recessive cerebellar ataxia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:284289	"" []	4396282	\N	\N	EFO	6	EFO	neurodegenerative disease	Adult-onset autosomal recessive cerebellar ataxia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:284289	"" []	4396283	\N	\N	EFO	6	EFO	brain disease	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:284289	"" []	4396284	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Adult-onset autosomal recessive cerebellar ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284289	"" []	4396285	\N	\N	EFO	6	EFO	genetic disorder	Adult-onset autosomal recessive cerebellar ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:284289	"" []	4396286	\N	\N	EFO	6	EFO	eye disease	Adult-onset autosomal recessive cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284289	"" []	6807927	\N	\N	EFO	10	EFO	material property	Adult-onset autosomal recessive cerebellar ataxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:284289	"" []	5414018	\N	\N	EFO	7	EFO	nervous system disease	Adult-onset autosomal recessive cerebellar ataxia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:284289	"" []	5414020	\N	\N	EFO	7	EFO	nervous system disease	Adult-onset autosomal recessive cerebellar ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284289	"" []	5414022	\N	\N	EFO	7	EFO	disease	Adult-onset autosomal recessive cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284289	"" []	7048672	\N	\N	EFO	11	EFO	experimental factor	Adult-onset autosomal recessive cerebellar ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284289	"" []	6150381	\N	\N	EFO	8	EFO	disease	Adult-onset autosomal recessive cerebellar ataxia
Orphanet:2843	\N	\N	"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." []	Orphanet:2843	"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." []	75762	\N	\N	EFO	0	EFO	Pentosuria	Pentosuria
Orphanet:79186	Orphanet:2843	\N	"" []	Orphanet:2843	"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." []	218466	\N	\N	EFO	1	EFO	Disorder of pentose phosphate metabolism	Pentosuria
Orphanet:79161	Orphanet:79186	\N	"" []	Orphanet:2843	"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." []	573557	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Pentosuria
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:2843	"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." []	1156152	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Pentosuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2843	"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." []	2039045	\N	\N	EFO	4	EFO	genetic disorder	Pentosuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2843	"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." []	2039046	\N	\N	EFO	4	EFO	metabolic disease	Pentosuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2843	"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." []	3189320	\N	\N	EFO	5	EFO	disease	Pentosuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2843	"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." []	3189321	\N	\N	EFO	5	EFO	disease	Pentosuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2843	"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." []	4396287	\N	\N	EFO	6	EFO	disposition	Pentosuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2843	"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." []	5414023	\N	\N	EFO	7	EFO	material property	Pentosuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2843	"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." []	6150382	\N	\N	EFO	8	EFO	experimental factor	Pentosuria
Orphanet:284324	\N	\N	"" []	Orphanet:284324	"" []	75763	\N	\N	EFO	0	EFO	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:1172	Orphanet:284324	\N	"" []	Orphanet:284324	"" []	218467	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:284324	"" []	573558	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:284324	"" []	573559	\N	\N	EFO	2	EFO	Early-onset ataxia with dementia	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:284324	"" []	573560	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:284324	"" []	1156153	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:284324	"" []	1156154	\N	\N	EFO	3	EFO	Ataxia with dementia	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:284324	"" []	1156155	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284324	"" []	5414026	\N	\N	EFO	7	EFO	genetic disorder	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:284324	"" []	2039048	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:284324	"" []	2039049	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284324	"" []	5817675	\N	\N	EFO	8	EFO	disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:284324	"" []	3189323	\N	\N	EFO	5	EFO	Genetic dementia	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:284324	"" []	3189324	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:284324	"" []	3189325	\N	\N	EFO	5	EFO	Rare genetic eye disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284324	"" []	6410086	\N	\N	EFO	9	EFO	disposition	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:284324	"" []	4396289	\N	\N	EFO	6	EFO	brain disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:284324	"" []	4396290	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:284324	"" []	4396291	\N	\N	EFO	6	EFO	neurodegenerative disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:284324	"" []	4396292	\N	\N	EFO	6	EFO	brain disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:284324	"" []	4396293	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284324	"" []	4396294	\N	\N	EFO	6	EFO	genetic disorder	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:284324	"" []	4396295	\N	\N	EFO	6	EFO	eye disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284324	"" []	6807928	\N	\N	EFO	10	EFO	material property	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:284324	"" []	5414025	\N	\N	EFO	7	EFO	nervous system disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:284324	"" []	5414027	\N	\N	EFO	7	EFO	nervous system disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284324	"" []	5414029	\N	\N	EFO	7	EFO	disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284324	"" []	7048673	\N	\N	EFO	11	EFO	experimental factor	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284324	"" []	6150384	\N	\N	EFO	8	EFO	disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Orphanet:284332	\N	\N	"" []	Orphanet:284332	"" []	75764	\N	\N	EFO	0	EFO	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:1172	Orphanet:284332	\N	"" []	Orphanet:284332	"" []	218468	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:284332	"" []	573561	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:284332	"" []	573562	\N	\N	EFO	2	EFO	Early-onset ataxia with dementia	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:284332	"" []	573563	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:284332	"" []	1156156	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:284332	"" []	1156157	\N	\N	EFO	3	EFO	Ataxia with dementia	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:284332	"" []	1156158	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284332	"" []	5414032	\N	\N	EFO	7	EFO	genetic disorder	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:284332	"" []	2039051	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:284332	"" []	2039052	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284332	"" []	5817676	\N	\N	EFO	8	EFO	disease	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:284332	"" []	3189327	\N	\N	EFO	5	EFO	Genetic dementia	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:284332	"" []	3189328	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:284332	"" []	3189329	\N	\N	EFO	5	EFO	Rare genetic eye disease	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284332	"" []	6410087	\N	\N	EFO	9	EFO	disposition	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:284332	"" []	4396297	\N	\N	EFO	6	EFO	brain disease	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:284332	"" []	4396298	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:284332	"" []	4396299	\N	\N	EFO	6	EFO	neurodegenerative disease	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:284332	"" []	4396300	\N	\N	EFO	6	EFO	brain disease	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:284332	"" []	4396301	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284332	"" []	4396302	\N	\N	EFO	6	EFO	genetic disorder	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:284332	"" []	4396303	\N	\N	EFO	6	EFO	eye disease	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284332	"" []	6807929	\N	\N	EFO	10	EFO	material property	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:284332	"" []	5414031	\N	\N	EFO	7	EFO	nervous system disease	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:284332	"" []	5414033	\N	\N	EFO	7	EFO	nervous system disease	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284332	"" []	5414035	\N	\N	EFO	7	EFO	disease	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284332	"" []	7048674	\N	\N	EFO	11	EFO	experimental factor	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284332	"" []	6150386	\N	\N	EFO	8	EFO	disease	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Orphanet:284339	\N	\N	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	75765	\N	\N	EFO	0	EFO	Pontocerebellar hypoplasia type 7	Pontocerebellar hypoplasia type 7
Orphanet:98523	Orphanet:284339	\N	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	218469	\N	\N	EFO	1	EFO	Non-syndromic pontocerebellar hypoplasia	Pontocerebellar hypoplasia type 7
Orphanet:269557	Orphanet:98523	\N	"" []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	573564	\N	\N	EFO	2	EFO	Genetic posterior fossa malformation	Pontocerebellar hypoplasia type 7
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	1156159	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Pontocerebellar hypoplasia type 7
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	2039053	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Pontocerebellar hypoplasia type 7
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	3189330	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pontocerebellar hypoplasia type 7
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	3189331	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pontocerebellar hypoplasia type 7
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	4396304	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 7
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	4396305	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	5414036	\N	\N	EFO	7	EFO	disease	Pontocerebellar hypoplasia type 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	6150387	\N	\N	EFO	8	EFO	disposition	Pontocerebellar hypoplasia type 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	6633140	\N	\N	EFO	9	EFO	material property	Pontocerebellar hypoplasia type 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284339	"Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." []	6925853	\N	\N	EFO	10	EFO	experimental factor	Pontocerebellar hypoplasia type 7
Orphanet:284385	\N	\N	"" []	Orphanet:284385	"" []	75766	\N	\N	EFO	0	EFO	Familial intrahepatic cholestasis	Familial intrahepatic cholestasis
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:284385	"" []	218470	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Familial intrahepatic cholestasis
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:284385	"" []	573565	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Familial intrahepatic cholestasis
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:284385	"" []	1156160	\N	\N	EFO	3	EFO	digestive system disease	Familial intrahepatic cholestasis
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284385	"" []	1156161	\N	\N	EFO	3	EFO	genetic disorder	Familial intrahepatic cholestasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284385	"" []	2039054	\N	\N	EFO	4	EFO	disease	Familial intrahepatic cholestasis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284385	"" []	2039055	\N	\N	EFO	4	EFO	disease	Familial intrahepatic cholestasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284385	"" []	3189332	\N	\N	EFO	5	EFO	disposition	Familial intrahepatic cholestasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284385	"" []	4396306	\N	\N	EFO	6	EFO	material property	Familial intrahepatic cholestasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284385	"" []	5414037	\N	\N	EFO	7	EFO	experimental factor	Familial intrahepatic cholestasis
Orphanet:284408	\N	\N	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	75767	\N	\N	EFO	0	EFO	Glycerol kinase deficiency, infantile form	Glycerol kinase deficiency, infantile form
Orphanet:182076	Orphanet:284408	\N	"" []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	218471	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Glycerol kinase deficiency, infantile form
Orphanet:408	Orphanet:284408	\N	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	218472	\N	\N	EFO	1	EFO	Isolated glycerol kinase deficiency	Glycerol kinase deficiency, infantile form
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	573566	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Glycerol kinase deficiency, infantile form
Orphanet:308993	Orphanet:408	\N	"" []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	573567	\N	\N	EFO	2	EFO	Glycerol kinase deficiency	Glycerol kinase deficiency, infantile form
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	1156162	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Glycerol kinase deficiency, infantile form
Orphanet:79179	Orphanet:308993	\N	"" []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	1156163	\N	\N	EFO	3	EFO	Disorder of glycerol metabolism	Glycerol kinase deficiency, infantile form
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	2039056	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Glycerol kinase deficiency, infantile form
Orphanet:79161	Orphanet:79179	\N	"" []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	2039057	\N	\N	EFO	4	EFO	Disorder of carbohydrate metabolism	Glycerol kinase deficiency, infantile form
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	3189333	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Glycerol kinase deficiency, infantile form
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	3189334	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Glycerol kinase deficiency, infantile form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	4396307	\N	\N	EFO	6	EFO	genetic disorder	Glycerol kinase deficiency, infantile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	4396308	\N	\N	EFO	6	EFO	genetic disorder	Glycerol kinase deficiency, infantile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	4396309	\N	\N	EFO	6	EFO	metabolic disease	Glycerol kinase deficiency, infantile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	5414038	\N	\N	EFO	7	EFO	disease	Glycerol kinase deficiency, infantile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	5414039	\N	\N	EFO	7	EFO	disease	Glycerol kinase deficiency, infantile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	6150388	\N	\N	EFO	8	EFO	disposition	Glycerol kinase deficiency, infantile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	6633141	\N	\N	EFO	9	EFO	material property	Glycerol kinase deficiency, infantile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284408	"Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." []	6925854	\N	\N	EFO	10	EFO	experimental factor	Glycerol kinase deficiency, infantile form
Orphanet:284411	\N	\N	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	75768	\N	\N	EFO	0	EFO	Glycerol kinase deficiency, juvenile form	Glycerol kinase deficiency, juvenile form
Orphanet:408	Orphanet:284411	\N	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	218473	\N	\N	EFO	1	EFO	Isolated glycerol kinase deficiency	Glycerol kinase deficiency, juvenile form
Orphanet:308993	Orphanet:408	\N	"" []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	573568	\N	\N	EFO	2	EFO	Glycerol kinase deficiency	Glycerol kinase deficiency, juvenile form
Orphanet:79179	Orphanet:308993	\N	"" []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	1156164	\N	\N	EFO	3	EFO	Disorder of glycerol metabolism	Glycerol kinase deficiency, juvenile form
Orphanet:79161	Orphanet:79179	\N	"" []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	2039058	\N	\N	EFO	4	EFO	Disorder of carbohydrate metabolism	Glycerol kinase deficiency, juvenile form
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	3189335	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Glycerol kinase deficiency, juvenile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	4396310	\N	\N	EFO	6	EFO	genetic disorder	Glycerol kinase deficiency, juvenile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	4396311	\N	\N	EFO	6	EFO	metabolic disease	Glycerol kinase deficiency, juvenile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	5414040	\N	\N	EFO	7	EFO	disease	Glycerol kinase deficiency, juvenile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	5414041	\N	\N	EFO	7	EFO	disease	Glycerol kinase deficiency, juvenile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	6150389	\N	\N	EFO	8	EFO	disposition	Glycerol kinase deficiency, juvenile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	6633142	\N	\N	EFO	9	EFO	material property	Glycerol kinase deficiency, juvenile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284411	"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." []	6925855	\N	\N	EFO	10	EFO	experimental factor	Glycerol kinase deficiency, juvenile form
Orphanet:284414	\N	\N	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	75769	\N	\N	EFO	0	EFO	Glycerol kinase deficiency, adult form	Glycerol kinase deficiency, adult form
Orphanet:408	Orphanet:284414	\N	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	218474	\N	\N	EFO	1	EFO	Isolated glycerol kinase deficiency	Glycerol kinase deficiency, adult form
Orphanet:308993	Orphanet:408	\N	"" []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	573569	\N	\N	EFO	2	EFO	Glycerol kinase deficiency	Glycerol kinase deficiency, adult form
Orphanet:79179	Orphanet:308993	\N	"" []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	1156165	\N	\N	EFO	3	EFO	Disorder of glycerol metabolism	Glycerol kinase deficiency, adult form
Orphanet:79161	Orphanet:79179	\N	"" []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	2039059	\N	\N	EFO	4	EFO	Disorder of carbohydrate metabolism	Glycerol kinase deficiency, adult form
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	3189336	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Glycerol kinase deficiency, adult form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	4396312	\N	\N	EFO	6	EFO	genetic disorder	Glycerol kinase deficiency, adult form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	4396313	\N	\N	EFO	6	EFO	metabolic disease	Glycerol kinase deficiency, adult form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	5414042	\N	\N	EFO	7	EFO	disease	Glycerol kinase deficiency, adult form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	5414043	\N	\N	EFO	7	EFO	disease	Glycerol kinase deficiency, adult form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	6150390	\N	\N	EFO	8	EFO	disposition	Glycerol kinase deficiency, adult form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	6633143	\N	\N	EFO	9	EFO	material property	Glycerol kinase deficiency, adult form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284414	"Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." []	6925856	\N	\N	EFO	10	EFO	experimental factor	Glycerol kinase deficiency, adult form
Orphanet:284417	\N	\N	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	Orphanet:284417	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	75770	\N	\N	EFO	0	EFO	Phosphoserine aminotransferase deficiency	Phosphoserine aminotransferase deficiency
Orphanet:35705	Orphanet:284417	\N	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	Orphanet:284417	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	218475	\N	\N	EFO	1	EFO	Neurometabolic disorder due to serine deficiency	Phosphoserine aminotransferase deficiency
Orphanet:79194	Orphanet:35705	\N	"" []	Orphanet:284417	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	573570	\N	\N	EFO	2	EFO	Disorder of serine or glycine metabolism	Phosphoserine aminotransferase deficiency
Orphanet:79062	Orphanet:79194	\N	"" []	Orphanet:284417	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	1156166	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Phosphoserine aminotransferase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:284417	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	2039060	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Phosphoserine aminotransferase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284417	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	3189337	\N	\N	EFO	5	EFO	genetic disorder	Phosphoserine aminotransferase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:284417	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	3189338	\N	\N	EFO	5	EFO	metabolic disease	Phosphoserine aminotransferase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284417	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	4396314	\N	\N	EFO	6	EFO	disease	Phosphoserine aminotransferase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284417	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	4396315	\N	\N	EFO	6	EFO	disease	Phosphoserine aminotransferase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284417	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	5414044	\N	\N	EFO	7	EFO	disposition	Phosphoserine aminotransferase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284417	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	6150391	\N	\N	EFO	8	EFO	material property	Phosphoserine aminotransferase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284417	"Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." []	6633144	\N	\N	EFO	9	EFO	experimental factor	Phosphoserine aminotransferase deficiency
Orphanet:284426	\N	\N	"" []	Orphanet:284426	"" []	75771	\N	\N	EFO	0	EFO	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Orphanet:206959	Orphanet:284426	\N	"" []	Orphanet:284426	"" []	218476	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Orphanet:2364	Orphanet:284426	\N	"" []	Orphanet:284426	"" []	218477	\N	\N	EFO	1	EFO	Glycogen storage disease due to lactate dehydrogenase deficiency	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:284426	"" []	573571	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Orphanet:79201	Orphanet:2364	\N	"" []	Orphanet:284426	"" []	573572	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:284426	"" []	1156167	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:284426	"" []	1156168	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:284426	"" []	2039061	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:284426	"" []	2039062	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:284426	"" []	3189339	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284426	"" []	3189340	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:284426	"" []	3189341	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:284426	"" []	4396316	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:284426	"" []	4396317	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284426	"" []	6150393	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284426	"" []	4396319	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:284426	"" []	5414045	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284426	"" []	5414046	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284426	"" []	6470451	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284426	"" []	6150392	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284426	"" []	6848538	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284426	"" []	7068461	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Orphanet:284435	\N	\N	"" []	Orphanet:284435	"" []	75772	\N	\N	EFO	0	EFO	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Orphanet:2364	Orphanet:284435	\N	"" []	Orphanet:284435	"" []	218478	\N	\N	EFO	1	EFO	Glycogen storage disease due to lactate dehydrogenase deficiency	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Orphanet:79201	Orphanet:2364	\N	"" []	Orphanet:284435	"" []	573573	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:284435	"" []	1156169	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:284435	"" []	2039063	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284435	"" []	3189342	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:284435	"" []	3189343	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284435	"" []	4396320	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284435	"" []	4396321	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284435	"" []	5414048	\N	\N	EFO	7	EFO	disposition	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284435	"" []	6150395	\N	\N	EFO	8	EFO	material property	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284435	"" []	6633146	\N	\N	EFO	9	EFO	experimental factor	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Orphanet:28455	\N	\N	"" []	Orphanet:28455	"" []	75773	\N	\N	EFO	0	EFO	Pancreatic beta cell agenesis with neonatal diabetes mellitus	Pancreatic beta cell agenesis with neonatal diabetes mellitus
Orphanet:183625	Orphanet:28455	\N	"" []	Orphanet:28455	"" []	218479	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Pancreatic beta cell agenesis with neonatal diabetes mellitus
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:28455	"" []	573574	\N	\N	EFO	2	EFO	diabetes mellitus	Pancreatic beta cell agenesis with neonatal diabetes mellitus
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:28455	"" []	573575	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Pancreatic beta cell agenesis with neonatal diabetes mellitus
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:28455	"" []	1156170	\N	\N	EFO	3	EFO	metabolic disease	Pancreatic beta cell agenesis with neonatal diabetes mellitus
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:28455	"" []	1156171	\N	\N	EFO	3	EFO	genetic disorder	Pancreatic beta cell agenesis with neonatal diabetes mellitus
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:28455	"" []	1156172	\N	\N	EFO	3	EFO	endocrine system disease	Pancreatic beta cell agenesis with neonatal diabetes mellitus
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:28455	"" []	2039064	\N	\N	EFO	4	EFO	disease	Pancreatic beta cell agenesis with neonatal diabetes mellitus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:28455	"" []	2039065	\N	\N	EFO	4	EFO	disease	Pancreatic beta cell agenesis with neonatal diabetes mellitus
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:28455	"" []	2039066	\N	\N	EFO	4	EFO	disease	Pancreatic beta cell agenesis with neonatal diabetes mellitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:28455	"" []	3189344	\N	\N	EFO	5	EFO	disposition	Pancreatic beta cell agenesis with neonatal diabetes mellitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:28455	"" []	4396322	\N	\N	EFO	6	EFO	material property	Pancreatic beta cell agenesis with neonatal diabetes mellitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:28455	"" []	5414049	\N	\N	EFO	7	EFO	experimental factor	Pancreatic beta cell agenesis with neonatal diabetes mellitus
Orphanet:2847	\N	\N	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	Orphanet:2847	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	75774	\N	\N	EFO	0	EFO	Pericardial and diaphragmatic defect	Pericardial and diaphragmatic defect
EFO:0000684	Orphanet:2847	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2847	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	218480	\N	\N	EFO	1	EFO	respiratory system disease	Pericardial and diaphragmatic defect
EFO:0003777	Orphanet:2847	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2847	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	218481	\N	\N	EFO	1	EFO	heart disease	Pericardial and diaphragmatic defect
Orphanet:183530	Orphanet:2847	\N	"" []	Orphanet:2847	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	218482	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Pericardial and diaphragmatic defect
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2847	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	573576	\N	\N	EFO	2	EFO	disease	Pericardial and diaphragmatic defect
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:2847	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	573577	\N	\N	EFO	2	EFO	cardiovascular disease	Pericardial and diaphragmatic defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2847	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	573578	\N	\N	EFO	2	EFO	genetic disorder	Pericardial and diaphragmatic defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2847	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	2039068	\N	\N	EFO	4	EFO	disposition	Pericardial and diaphragmatic defect
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2847	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	1156174	\N	\N	EFO	3	EFO	disease	Pericardial and diaphragmatic defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2847	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	1156175	\N	\N	EFO	3	EFO	disease	Pericardial and diaphragmatic defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2847	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	3000276	\N	\N	EFO	5	EFO	material property	Pericardial and diaphragmatic defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2847	"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." []	4133769	\N	\N	EFO	6	EFO	experimental factor	Pericardial and diaphragmatic defect
Orphanet:284786	\N	\N	"" []	Orphanet:284786	"" []	75775	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of troponin	Qualitative or quantitative defects of troponin
Orphanet:207049	Orphanet:284786	\N	"" []	Orphanet:284786	"" []	218483	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of troponin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:284786	"" []	573579	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of troponin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:284786	"" []	1156176	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of troponin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:284786	"" []	1156177	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of troponin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:284786	"" []	2039069	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of troponin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284786	"" []	2039070	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of troponin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284786	"" []	3189346	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of troponin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284786	"" []	3189347	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of troponin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284786	"" []	4396323	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of troponin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284786	"" []	5414050	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of troponin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284786	"" []	6150396	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of troponin
Orphanet:284790	\N	\N	"" []	Orphanet:284790	"" []	75776	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of tropomyosin	Qualitative or quantitative defects of tropomyosin
Orphanet:207049	Orphanet:284790	\N	"" []	Orphanet:284790	"" []	218484	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of tropomyosin
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:284790	"" []	573580	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of tropomyosin
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:284790	"" []	1156178	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of tropomyosin
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:284790	"" []	1156179	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of tropomyosin
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:284790	"" []	2039071	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of tropomyosin
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284790	"" []	2039072	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of tropomyosin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284790	"" []	3189348	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of tropomyosin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284790	"" []	3189349	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of tropomyosin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284790	"" []	4396324	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of tropomyosin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284790	"" []	5414051	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of tropomyosin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284790	"" []	6150397	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of tropomyosin
Orphanet:284804	\N	\N	"" []	Orphanet:284804	"" []	75777	\N	\N	EFO	0	EFO	Ocular albinism	Ocular albinism
Orphanet:352728	Orphanet:284804	\N	"" []	Orphanet:284804	"" []	218485	\N	\N	EFO	1	EFO	Disorder of melanin metabolism	Ocular albinism
Orphanet:98706	Orphanet:284804	\N	"" []	Orphanet:284804	"" []	218486	\N	\N	EFO	1	EFO	Oculocutaneous or ocular albinism	Ocular albinism
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:284804	"" []	573581	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Ocular albinism
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:284804	"" []	573582	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement	Ocular albinism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:284804	"" []	1156180	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Ocular albinism
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:284804	"" []	1156181	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Ocular albinism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284804	"" []	2039073	\N	\N	EFO	4	EFO	genetic disorder	Ocular albinism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:284804	"" []	2039074	\N	\N	EFO	4	EFO	metabolic disease	Ocular albinism
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:284804	"" []	2039075	\N	\N	EFO	4	EFO	Rare genetic eye disease	Ocular albinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284804	"" []	4396326	\N	\N	EFO	6	EFO	disease	Ocular albinism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284804	"" []	3189351	\N	\N	EFO	5	EFO	disease	Ocular albinism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284804	"" []	3189352	\N	\N	EFO	5	EFO	genetic disorder	Ocular albinism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:284804	"" []	3189353	\N	\N	EFO	5	EFO	eye disease	Ocular albinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284804	"" []	5182410	\N	\N	EFO	7	EFO	disposition	Ocular albinism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284804	"" []	4396327	\N	\N	EFO	6	EFO	disease	Ocular albinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284804	"" []	5997756	\N	\N	EFO	8	EFO	material property	Ocular albinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284804	"" []	6551071	\N	\N	EFO	9	EFO	experimental factor	Ocular albinism
Orphanet:284811	\N	\N	"" []	Orphanet:284811	"" []	75778	\N	\N	EFO	0	EFO	Syndromic oculocutaneous albinism	Syndromic oculocutaneous albinism
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:284811	"" []	218487	\N	\N	EFO	1	EFO	Genetic hypopigmentation of the skin	Syndromic oculocutaneous albinism
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:284811	"" []	218488	\N	\N	EFO	1	EFO	Oculocutaneous or ocular albinism	Syndromic oculocutaneous albinism
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:284811	"" []	573583	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Syndromic oculocutaneous albinism
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:284811	"" []	573584	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement	Syndromic oculocutaneous albinism
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:284811	"" []	1156182	\N	\N	EFO	3	EFO	Rare genetic skin disease	Syndromic oculocutaneous albinism
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:284811	"" []	1156183	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Syndromic oculocutaneous albinism
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284811	"" []	2039076	\N	\N	EFO	4	EFO	genetic disorder	Syndromic oculocutaneous albinism
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:284811	"" []	2039077	\N	\N	EFO	4	EFO	skin disease	Syndromic oculocutaneous albinism
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:284811	"" []	2039078	\N	\N	EFO	4	EFO	Rare genetic eye disease	Syndromic oculocutaneous albinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284811	"" []	4396329	\N	\N	EFO	6	EFO	disease	Syndromic oculocutaneous albinism
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284811	"" []	3189355	\N	\N	EFO	5	EFO	disease	Syndromic oculocutaneous albinism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284811	"" []	3189356	\N	\N	EFO	5	EFO	genetic disorder	Syndromic oculocutaneous albinism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:284811	"" []	3189357	\N	\N	EFO	5	EFO	eye disease	Syndromic oculocutaneous albinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284811	"" []	5182411	\N	\N	EFO	7	EFO	disposition	Syndromic oculocutaneous albinism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284811	"" []	4396330	\N	\N	EFO	6	EFO	disease	Syndromic oculocutaneous albinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284811	"" []	5997757	\N	\N	EFO	8	EFO	material property	Syndromic oculocutaneous albinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284811	"" []	6551072	\N	\N	EFO	9	EFO	experimental factor	Syndromic oculocutaneous albinism
Orphanet:284814	\N	\N	"" []	Orphanet:284814	"" []	75779	\N	\N	EFO	0	EFO	Disorder of phenylalanine metabolism	Disorder of phenylalanine metabolism
Orphanet:79190	Orphanet:284814	\N	"" []	Orphanet:284814	"" []	218489	\N	\N	EFO	1	EFO	Disorder of phenylalanin or tyrosine metabolism	Disorder of phenylalanine metabolism
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:284814	"" []	573585	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of phenylalanine metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:284814	"" []	1156184	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of phenylalanine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284814	"" []	2039079	\N	\N	EFO	4	EFO	genetic disorder	Disorder of phenylalanine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:284814	"" []	2039080	\N	\N	EFO	4	EFO	metabolic disease	Disorder of phenylalanine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284814	"" []	3189358	\N	\N	EFO	5	EFO	disease	Disorder of phenylalanine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284814	"" []	3189359	\N	\N	EFO	5	EFO	disease	Disorder of phenylalanine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284814	"" []	4396331	\N	\N	EFO	6	EFO	disposition	Disorder of phenylalanine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284814	"" []	5414054	\N	\N	EFO	7	EFO	material property	Disorder of phenylalanine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284814	"" []	6150400	\N	\N	EFO	8	EFO	experimental factor	Disorder of phenylalanine metabolism
Orphanet:284818	\N	\N	"" []	Orphanet:284818	"" []	75780	\N	\N	EFO	0	EFO	Disorder of tyrosine metabolism	Disorder of tyrosine metabolism
Orphanet:79190	Orphanet:284818	\N	"" []	Orphanet:284818	"" []	218490	\N	\N	EFO	1	EFO	Disorder of phenylalanin or tyrosine metabolism	Disorder of tyrosine metabolism
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:284818	"" []	573586	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of tyrosine metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:284818	"" []	1156185	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of tyrosine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284818	"" []	2039081	\N	\N	EFO	4	EFO	genetic disorder	Disorder of tyrosine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:284818	"" []	2039082	\N	\N	EFO	4	EFO	metabolic disease	Disorder of tyrosine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284818	"" []	3189360	\N	\N	EFO	5	EFO	disease	Disorder of tyrosine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284818	"" []	3189361	\N	\N	EFO	5	EFO	disease	Disorder of tyrosine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284818	"" []	4396332	\N	\N	EFO	6	EFO	disposition	Disorder of tyrosine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284818	"" []	5414055	\N	\N	EFO	7	EFO	material property	Disorder of tyrosine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284818	"" []	6150401	\N	\N	EFO	8	EFO	experimental factor	Disorder of tyrosine metabolism
Orphanet:2849	\N	\N	"" []	Orphanet:2849	"" []	75781	\N	\N	EFO	0	EFO	Perlman syndrome	Perlman syndrome
Orphanet:183422	Orphanet:2849	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:2849	"" []	218491	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Perlman syndrome
Orphanet:183595	Orphanet:2849	\N	"" []	Orphanet:2849	"" []	218492	\N	\N	EFO	1	EFO	Genetic renal tumor	Perlman syndrome
Orphanet:93460	Orphanet:2849	\N	"" []	Orphanet:2849	"" []	218493	\N	\N	EFO	1	EFO	Overgrowth syndrome	Perlman syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:2849	"" []	573587	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Perlman syndrome
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:2849	"" []	573588	\N	\N	EFO	2	EFO	urogenital neoplasm	Perlman syndrome
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:2849	"" []	573589	\N	\N	EFO	2	EFO	Rare genetic tumor	Perlman syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:2849	"" []	573590	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Perlman syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2849	"" []	1156186	\N	\N	EFO	3	EFO	genetic disorder	Perlman syndrome
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2849	"" []	1156187	\N	\N	EFO	3	EFO	neoplasm	Perlman syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2849	"" []	1156188	\N	\N	EFO	3	EFO	genetic disorder	Perlman syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2849	"" []	1156189	\N	\N	EFO	3	EFO	neoplasm	Perlman syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:2849	"" []	1156190	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Perlman syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2849	"" []	3189363	\N	\N	EFO	5	EFO	disease	Perlman syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2849	"" []	2039084	\N	\N	EFO	4	EFO	disease	Perlman syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2849	"" []	2039085	\N	\N	EFO	4	EFO	genetic disorder	Perlman syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2849	"" []	4133770	\N	\N	EFO	6	EFO	disposition	Perlman syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2849	"" []	5182412	\N	\N	EFO	7	EFO	material property	Perlman syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2849	"" []	5997758	\N	\N	EFO	8	EFO	experimental factor	Perlman syndrome
Orphanet:284963	\N	\N	"" []	Orphanet:284963	"" []	75782	\N	\N	EFO	0	EFO	Marfan syndrome type 1	Marfan syndrome type 1
Orphanet:558	Orphanet:284963	\N	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	Orphanet:284963	"" []	218494	\N	\N	EFO	1	EFO	Marfan syndrome	Marfan syndrome type 1
Orphanet:139030	Orphanet:558	\N	"" []	Orphanet:284963	"" []	573591	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Marfan syndrome type 1
Orphanet:284993	Orphanet:558	\N	"" []	Orphanet:284963	"" []	573592	\N	\N	EFO	2	EFO	Marfan and Marfan-related disorder	Marfan syndrome type 1
Orphanet:285014	Orphanet:558	\N	"" []	Orphanet:284963	"" []	573593	\N	\N	EFO	2	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Marfan syndrome type 1
Orphanet:98620	Orphanet:558	\N	"" []	Orphanet:284963	"" []	573594	\N	\N	EFO	2	EFO	Syndromic myopia	Marfan syndrome type 1
Orphanet:98623	Orphanet:558	\N	"" []	Orphanet:284963	"" []	573595	\N	\N	EFO	2	EFO	Syndromic keratoconus	Marfan syndrome type 1
Orphanet:98653	Orphanet:558	\N	"" []	Orphanet:284963	"" []	573596	\N	\N	EFO	2	EFO	Lens position anomaly	Marfan syndrome type 1
Orphanet:98702	Orphanet:558	\N	"" []	Orphanet:284963	"" []	573597	\N	\N	EFO	2	EFO	Connective tissue disease with eye involvement	Marfan syndrome type 1
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:284963	"" []	1156191	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Marfan syndrome type 1
Orphanet:271870	Orphanet:284993	\N	"" []	Orphanet:284963	"" []	1156192	\N	\N	EFO	3	EFO	Rare genetic systemic or rheumatologic disease	Marfan syndrome type 1
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:284963	"" []	1156193	\N	\N	EFO	3	EFO	Rare genetic vascular disease	Marfan syndrome type 1
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:284963	"" []	1156194	\N	\N	EFO	3	EFO	Rare genetic refraction anomaly	Marfan syndrome type 1
Orphanet:156071	Orphanet:98623	\N	"" []	Orphanet:284963	"" []	1156195	\N	\N	EFO	3	EFO	Keratoconus	Marfan syndrome type 1
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:284963	"" []	1156196	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Marfan syndrome type 1
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	Orphanet:284963	"" []	1156197	\N	\N	EFO	3	EFO	connective tissue disease	Marfan syndrome type 1
Orphanet:101435	Orphanet:98702	\N	"" []	Orphanet:284963	"" []	1156198	\N	\N	EFO	3	EFO	Rare genetic eye disease	Marfan syndrome type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284963	"" []	2039086	\N	\N	EFO	4	EFO	genetic disorder	Marfan syndrome type 1
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284963	"" []	2039087	\N	\N	EFO	4	EFO	genetic disorder	Marfan syndrome type 1
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284963	"" []	2039088	\N	\N	EFO	4	EFO	genetic disorder	Marfan syndrome type 1
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:284963	"" []	2039089	\N	\N	EFO	4	EFO	vascular disease	Marfan syndrome type 1
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:284963	"" []	2039090	\N	\N	EFO	4	EFO	Rare genetic eye disease	Marfan syndrome type 1
Orphanet:101435	Orphanet:156071	\N	"" []	Orphanet:284963	"" []	2039091	\N	\N	EFO	4	EFO	Rare genetic eye disease	Marfan syndrome type 1
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:284963	"" []	2039092	\N	\N	EFO	4	EFO	Rare genetic eye disease	Marfan syndrome type 1
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	Orphanet:284963	"" []	2039093	\N	\N	EFO	4	EFO	skeletal system disease	Marfan syndrome type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284963	"" []	3189366	\N	\N	EFO	5	EFO	genetic disorder	Marfan syndrome type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:284963	"" []	3189367	\N	\N	EFO	5	EFO	eye disease	Marfan syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284963	"" []	4133771	\N	\N	EFO	6	EFO	disease	Marfan syndrome type 1
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:284963	"" []	3189365	\N	\N	EFO	5	EFO	cardiovascular disease	Marfan syndrome type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284963	"" []	3189368	\N	\N	EFO	5	EFO	disease	Marfan syndrome type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284963	"" []	4133772	\N	\N	EFO	6	EFO	disease	Marfan syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284963	"" []	5182413	\N	\N	EFO	7	EFO	disposition	Marfan syndrome type 1
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284963	"" []	4396335	\N	\N	EFO	6	EFO	disease	Marfan syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284963	"" []	5997759	\N	\N	EFO	8	EFO	material property	Marfan syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284963	"" []	6551073	\N	\N	EFO	9	EFO	experimental factor	Marfan syndrome type 1
Orphanet:284973	\N	\N	"" []	Orphanet:284973	"" []	75783	\N	\N	EFO	0	EFO	Marfan syndrome type 2	Marfan syndrome type 2
Orphanet:558	Orphanet:284973	\N	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	Orphanet:284973	"" []	218495	\N	\N	EFO	1	EFO	Marfan syndrome	Marfan syndrome type 2
Orphanet:139030	Orphanet:558	\N	"" []	Orphanet:284973	"" []	573598	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Marfan syndrome type 2
Orphanet:284993	Orphanet:558	\N	"" []	Orphanet:284973	"" []	573599	\N	\N	EFO	2	EFO	Marfan and Marfan-related disorder	Marfan syndrome type 2
Orphanet:285014	Orphanet:558	\N	"" []	Orphanet:284973	"" []	573600	\N	\N	EFO	2	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Marfan syndrome type 2
Orphanet:98620	Orphanet:558	\N	"" []	Orphanet:284973	"" []	573601	\N	\N	EFO	2	EFO	Syndromic myopia	Marfan syndrome type 2
Orphanet:98623	Orphanet:558	\N	"" []	Orphanet:284973	"" []	573602	\N	\N	EFO	2	EFO	Syndromic keratoconus	Marfan syndrome type 2
Orphanet:98653	Orphanet:558	\N	"" []	Orphanet:284973	"" []	573603	\N	\N	EFO	2	EFO	Lens position anomaly	Marfan syndrome type 2
Orphanet:98702	Orphanet:558	\N	"" []	Orphanet:284973	"" []	573604	\N	\N	EFO	2	EFO	Connective tissue disease with eye involvement	Marfan syndrome type 2
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:284973	"" []	1156199	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Marfan syndrome type 2
Orphanet:271870	Orphanet:284993	\N	"" []	Orphanet:284973	"" []	1156200	\N	\N	EFO	3	EFO	Rare genetic systemic or rheumatologic disease	Marfan syndrome type 2
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:284973	"" []	1156201	\N	\N	EFO	3	EFO	Rare genetic vascular disease	Marfan syndrome type 2
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:284973	"" []	1156202	\N	\N	EFO	3	EFO	Rare genetic refraction anomaly	Marfan syndrome type 2
Orphanet:156071	Orphanet:98623	\N	"" []	Orphanet:284973	"" []	1156203	\N	\N	EFO	3	EFO	Keratoconus	Marfan syndrome type 2
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:284973	"" []	1156204	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Marfan syndrome type 2
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	Orphanet:284973	"" []	1156205	\N	\N	EFO	3	EFO	connective tissue disease	Marfan syndrome type 2
Orphanet:101435	Orphanet:98702	\N	"" []	Orphanet:284973	"" []	1156206	\N	\N	EFO	3	EFO	Rare genetic eye disease	Marfan syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284973	"" []	2039096	\N	\N	EFO	4	EFO	genetic disorder	Marfan syndrome type 2
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284973	"" []	2039097	\N	\N	EFO	4	EFO	genetic disorder	Marfan syndrome type 2
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284973	"" []	2039098	\N	\N	EFO	4	EFO	genetic disorder	Marfan syndrome type 2
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:284973	"" []	2039099	\N	\N	EFO	4	EFO	vascular disease	Marfan syndrome type 2
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:284973	"" []	2039100	\N	\N	EFO	4	EFO	Rare genetic eye disease	Marfan syndrome type 2
Orphanet:101435	Orphanet:156071	\N	"" []	Orphanet:284973	"" []	2039101	\N	\N	EFO	4	EFO	Rare genetic eye disease	Marfan syndrome type 2
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:284973	"" []	2039102	\N	\N	EFO	4	EFO	Rare genetic eye disease	Marfan syndrome type 2
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	Orphanet:284973	"" []	2039103	\N	\N	EFO	4	EFO	skeletal system disease	Marfan syndrome type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284973	"" []	3189372	\N	\N	EFO	5	EFO	genetic disorder	Marfan syndrome type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:284973	"" []	3189373	\N	\N	EFO	5	EFO	eye disease	Marfan syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284973	"" []	4133773	\N	\N	EFO	6	EFO	disease	Marfan syndrome type 2
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:284973	"" []	3189371	\N	\N	EFO	5	EFO	cardiovascular disease	Marfan syndrome type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284973	"" []	3189374	\N	\N	EFO	5	EFO	disease	Marfan syndrome type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284973	"" []	4133774	\N	\N	EFO	6	EFO	disease	Marfan syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284973	"" []	5182414	\N	\N	EFO	7	EFO	disposition	Marfan syndrome type 2
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284973	"" []	4396337	\N	\N	EFO	6	EFO	disease	Marfan syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284973	"" []	5997760	\N	\N	EFO	8	EFO	material property	Marfan syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284973	"" []	6551074	\N	\N	EFO	9	EFO	experimental factor	Marfan syndrome type 2
Orphanet:284979	\N	\N	"" []	Orphanet:284979	"" []	75784	\N	\N	EFO	0	EFO	Neonatal Marfan syndrome	Neonatal Marfan syndrome
Orphanet:284993	Orphanet:284979	\N	"" []	Orphanet:284979	"" []	218496	\N	\N	EFO	1	EFO	Marfan and Marfan-related disorder	Neonatal Marfan syndrome
Orphanet:285014	Orphanet:284979	\N	"" []	Orphanet:284979	"" []	218497	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Neonatal Marfan syndrome
Orphanet:271870	Orphanet:284993	\N	"" []	Orphanet:284979	"" []	573605	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Neonatal Marfan syndrome
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:284979	"" []	573606	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Neonatal Marfan syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284979	"" []	1156207	\N	\N	EFO	3	EFO	genetic disorder	Neonatal Marfan syndrome
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284979	"" []	1156208	\N	\N	EFO	3	EFO	genetic disorder	Neonatal Marfan syndrome
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:284979	"" []	1156209	\N	\N	EFO	3	EFO	vascular disease	Neonatal Marfan syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284979	"" []	2039106	\N	\N	EFO	4	EFO	disease	Neonatal Marfan syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:284979	"" []	2039107	\N	\N	EFO	4	EFO	cardiovascular disease	Neonatal Marfan syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284979	"" []	4396339	\N	\N	EFO	6	EFO	disposition	Neonatal Marfan syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284979	"" []	3189377	\N	\N	EFO	5	EFO	disease	Neonatal Marfan syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284979	"" []	5182415	\N	\N	EFO	7	EFO	material property	Neonatal Marfan syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284979	"" []	5997761	\N	\N	EFO	8	EFO	experimental factor	Neonatal Marfan syndrome
Orphanet:284984	\N	\N	"" []	Orphanet:284984	"" []	75785	\N	\N	EFO	0	EFO	Aneurysm - osteoarthritis syndrome	Aneurysm - osteoarthritis syndrome
Orphanet:284993	Orphanet:284984	\N	"" []	Orphanet:284984	"" []	218498	\N	\N	EFO	1	EFO	Marfan and Marfan-related disorder	Aneurysm - osteoarthritis syndrome
Orphanet:285014	Orphanet:284984	\N	"" []	Orphanet:284984	"" []	218499	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Aneurysm - osteoarthritis syndrome
Orphanet:271870	Orphanet:284993	\N	"" []	Orphanet:284984	"" []	573607	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Aneurysm - osteoarthritis syndrome
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:284984	"" []	573608	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Aneurysm - osteoarthritis syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284984	"" []	1156210	\N	\N	EFO	3	EFO	genetic disorder	Aneurysm - osteoarthritis syndrome
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284984	"" []	1156211	\N	\N	EFO	3	EFO	genetic disorder	Aneurysm - osteoarthritis syndrome
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:284984	"" []	1156212	\N	\N	EFO	3	EFO	vascular disease	Aneurysm - osteoarthritis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284984	"" []	2039108	\N	\N	EFO	4	EFO	disease	Aneurysm - osteoarthritis syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:284984	"" []	2039109	\N	\N	EFO	4	EFO	cardiovascular disease	Aneurysm - osteoarthritis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284984	"" []	4396341	\N	\N	EFO	6	EFO	disposition	Aneurysm - osteoarthritis syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284984	"" []	3189379	\N	\N	EFO	5	EFO	disease	Aneurysm - osteoarthritis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284984	"" []	5182416	\N	\N	EFO	7	EFO	material property	Aneurysm - osteoarthritis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284984	"" []	5997762	\N	\N	EFO	8	EFO	experimental factor	Aneurysm - osteoarthritis syndrome
Orphanet:284993	\N	\N	"" []	Orphanet:284993	"" []	75786	\N	\N	EFO	0	EFO	Marfan and Marfan-related disorder	Marfan and Marfan-related disorder
Orphanet:271870	Orphanet:284993	\N	"" []	Orphanet:284993	"" []	218500	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	Marfan and Marfan-related disorder
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:284993	"" []	573609	\N	\N	EFO	2	EFO	genetic disorder	Marfan and Marfan-related disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:284993	"" []	1156213	\N	\N	EFO	3	EFO	disease	Marfan and Marfan-related disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:284993	"" []	2039110	\N	\N	EFO	4	EFO	disposition	Marfan and Marfan-related disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:284993	"" []	3189380	\N	\N	EFO	5	EFO	material property	Marfan and Marfan-related disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:284993	"" []	4396342	\N	\N	EFO	6	EFO	experimental factor	Marfan and Marfan-related disorder
Orphanet:285	\N	\N	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	75787	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, hypermobility type	Ehlers-Danlos syndrome, hypermobility type
Orphanet:98249	Orphanet:285	\N	"" []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	218501	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, hypermobility type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	573610	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, hypermobility type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	573611	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, hypermobility type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	573612	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, hypermobility type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	573613	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, hypermobility type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	1156214	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, hypermobility type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	1156215	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, hypermobility type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	1156216	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, hypermobility type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	1156217	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, hypermobility type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	2039111	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, hypermobility type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	2039112	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, hypermobility type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	4396343	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, hypermobility type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	3189382	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, hypermobility type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	3189383	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, hypermobility type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	5059904	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, hypermobility type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	4396344	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, hypermobility type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	5877220	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, hypermobility type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:285	"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." []	6470452	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, hypermobility type
Orphanet:2850	\N	\N	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	75788	\N	\N	EFO	0	EFO	Alopecia-intellectual disability syndrome	Alopecia-intellectual disability syndrome
Orphanet:183763	Orphanet:2850	\N	"" []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	218502	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Alopecia-intellectual disability syndrome
Orphanet:79364	Orphanet:2850	\N	"" []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	218503	\N	\N	EFO	1	EFO	Alopecia	Alopecia-intellectual disability syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	573614	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Alopecia-intellectual disability syndrome
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	573615	\N	\N	EFO	2	EFO	Genetic hair anomaly	Alopecia-intellectual disability syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	1156218	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alopecia-intellectual disability syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	1156219	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Alopecia-intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	2039114	\N	\N	EFO	4	EFO	genetic disorder	Alopecia-intellectual disability syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	2039115	\N	\N	EFO	4	EFO	Rare genetic skin disease	Alopecia-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	4396347	\N	\N	EFO	6	EFO	disease	Alopecia-intellectual disability syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	3189386	\N	\N	EFO	5	EFO	genetic disorder	Alopecia-intellectual disability syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	3189387	\N	\N	EFO	5	EFO	skin disease	Alopecia-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	5182418	\N	\N	EFO	7	EFO	disposition	Alopecia-intellectual disability syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	4396348	\N	\N	EFO	6	EFO	disease	Alopecia-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	5997764	\N	\N	EFO	8	EFO	material property	Alopecia-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2850	"Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." []	6551075	\N	\N	EFO	9	EFO	experimental factor	Alopecia-intellectual disability syndrome
Orphanet:285014	\N	\N	"" []	Orphanet:285014	"" []	75789	\N	\N	EFO	0	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Rare disease with thoracic aortic aneurysm and aortic dissection
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:285014	"" []	218504	\N	\N	EFO	1	EFO	Rare genetic vascular disease	Rare disease with thoracic aortic aneurysm and aortic dissection
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:285014	"" []	573616	\N	\N	EFO	2	EFO	genetic disorder	Rare disease with thoracic aortic aneurysm and aortic dissection
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:285014	"" []	573617	\N	\N	EFO	2	EFO	vascular disease	Rare disease with thoracic aortic aneurysm and aortic dissection
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:285014	"" []	1156220	\N	\N	EFO	3	EFO	disease	Rare disease with thoracic aortic aneurysm and aortic dissection
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:285014	"" []	1156221	\N	\N	EFO	3	EFO	cardiovascular disease	Rare disease with thoracic aortic aneurysm and aortic dissection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:285014	"" []	3189389	\N	\N	EFO	5	EFO	disposition	Rare disease with thoracic aortic aneurysm and aortic dissection
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:285014	"" []	2039117	\N	\N	EFO	4	EFO	disease	Rare disease with thoracic aortic aneurysm and aortic dissection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:285014	"" []	4133776	\N	\N	EFO	6	EFO	material property	Rare disease with thoracic aortic aneurysm and aortic dissection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:285014	"" []	5182419	\N	\N	EFO	7	EFO	experimental factor	Rare disease with thoracic aortic aneurysm and aortic dissection
Orphanet:2854	\N	\N	"" []	Orphanet:2854	"" []	75790	\N	\N	EFO	0	EFO	Fuhrmann syndrome	Fuhrmann syndrome
Orphanet:139039	Orphanet:2854	\N	"" []	Orphanet:2854	"" []	218505	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Fuhrmann syndrome
Orphanet:294959	Orphanet:2854	\N	"" []	Orphanet:2854	"" []	218506	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Fuhrmann syndrome
Orphanet:404574	Orphanet:2854	\N	"" []	Orphanet:2854	"" []	218507	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Fuhrmann syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2854	"" []	573618	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Fuhrmann syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2854	"" []	573619	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Fuhrmann syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2854	"" []	573620	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Fuhrmann syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2854	"" []	573621	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Fuhrmann syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2854	"" []	573622	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Fuhrmann syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2854	"" []	1156222	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Fuhrmann syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2854	"" []	1156223	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Fuhrmann syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2854	"" []	1156224	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Fuhrmann syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2854	"" []	2039118	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Fuhrmann syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2854	"" []	2039119	\N	\N	EFO	4	EFO	Rare genetic bone disease	Fuhrmann syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2854	"" []	2039120	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Fuhrmann syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2854	"" []	2039121	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Fuhrmann syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2854	"" []	3189390	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Fuhrmann syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2854	"" []	3189391	\N	\N	EFO	5	EFO	genetic disorder	Fuhrmann syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2854	"" []	3189392	\N	\N	EFO	5	EFO	bone disease	Fuhrmann syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2854	"" []	3189393	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Fuhrmann syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2854	"" []	4396350	\N	\N	EFO	6	EFO	genetic disorder	Fuhrmann syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2854	"" []	5182420	\N	\N	EFO	7	EFO	disease	Fuhrmann syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2854	"" []	4396352	\N	\N	EFO	6	EFO	skeletal system disease	Fuhrmann syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2854	"" []	5997765	\N	\N	EFO	8	EFO	disposition	Fuhrmann syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2854	"" []	5414064	\N	\N	EFO	7	EFO	disease	Fuhrmann syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2854	"" []	6551076	\N	\N	EFO	9	EFO	material property	Fuhrmann syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2854	"" []	6889222	\N	\N	EFO	10	EFO	experimental factor	Fuhrmann syndrome
Orphanet:2855	\N	\N	"" []	Orphanet:2855	"" []	75791	\N	\N	EFO	0	EFO	Perrault syndrome	Perrault syndrome
Orphanet:325109	Orphanet:2855	\N	"" []	Orphanet:2855	"" []	218508	\N	\N	EFO	1	EFO	Syndrome with 46,XX disorder of sex development	Perrault syndrome
Orphanet:325638	Orphanet:2855	\N	"" []	Orphanet:2855	"" []	218509	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Perrault syndrome
Orphanet:35696	Orphanet:2855	\N	"" []	Orphanet:2855	"" []	218510	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Perrault syndrome
Orphanet:399877	Orphanet:2855	\N	"" []	Orphanet:2855	"" []	218511	\N	\N	EFO	1	EFO	Female infertility due to gonadal dysgenesis	Perrault syndrome
Orphanet:90642	Orphanet:2855	\N	"" []	Orphanet:2855	"" []	218512	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Perrault syndrome
Orphanet:95710	Orphanet:2855	\N	"" []	Orphanet:2855	"" []	218513	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	Perrault syndrome
Orphanet:325697	Orphanet:325109	\N	"" []	Orphanet:2855	"" []	573623	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	Perrault syndrome
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:2855	"" []	573624	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Perrault syndrome
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:2855	"" []	573625	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Perrault syndrome
Orphanet:400008	Orphanet:399877	\N	"" []	Orphanet:2855	"" []	573626	\N	\N	EFO	2	EFO	Rare genetic female infertility	Perrault syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2855	"" []	573627	\N	\N	EFO	2	EFO	Rare genetic deafness	Perrault syndrome
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:2855	"" []	573628	\N	\N	EFO	2	EFO	ovarian disease	Perrault syndrome
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:2855	"" []	573629	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Perrault syndrome
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:2855	"" []	573630	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Perrault syndrome
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:2855	"" []	1156225	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Perrault syndrome
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:2855	"" []	1156226	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Perrault syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:2855	"" []	1156227	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Perrault syndrome
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:2855	"" []	1156228	\N	\N	EFO	3	EFO	Genetic infertility	Perrault syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2855	"" []	1156229	\N	\N	EFO	3	EFO	genetic disorder	Perrault syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2855	"" []	1156230	\N	\N	EFO	3	EFO	auditory system disease	Perrault syndrome
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:2855	"" []	1156231	\N	\N	EFO	3	EFO	reproductive system disease	Perrault syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2855	"" []	3189396	\N	\N	EFO	5	EFO	genetic disorder	Perrault syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2855	"" []	3189397	\N	\N	EFO	5	EFO	endocrine system disease	Perrault syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:2855	"" []	1156234	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Perrault syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:2855	"" []	2039122	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Perrault syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:2855	"" []	2039123	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Perrault syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:2855	"" []	2039124	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Perrault syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2855	"" []	2039125	\N	\N	EFO	4	EFO	genetic disorder	Perrault syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:2855	"" []	2039126	\N	\N	EFO	4	EFO	reproductive system disease	Perrault syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:2855	"" []	2039127	\N	\N	EFO	4	EFO	Mitochondrial disease	Perrault syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2855	"" []	2039128	\N	\N	EFO	4	EFO	genetic disorder	Perrault syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2855	"" []	2039129	\N	\N	EFO	4	EFO	reproductive system disease	Perrault syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2855	"" []	5877221	\N	\N	EFO	8	EFO	disease	Perrault syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2855	"" []	2039131	\N	\N	EFO	4	EFO	sensory system disease	Perrault syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2855	"" []	3189400	\N	\N	EFO	5	EFO	disease	Perrault syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2855	"" []	4066914	\N	\N	EFO	6	EFO	disease	Perrault syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2855	"" []	3189395	\N	\N	EFO	5	EFO	genetic disorder	Perrault syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2855	"" []	5414065	\N	\N	EFO	7	EFO	genetic disorder	Perrault syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:2855	"" []	3189401	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Perrault syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:2855	"" []	3189402	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Perrault syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2855	"" []	6378916	\N	\N	EFO	9	EFO	disposition	Perrault syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2855	"" []	3189404	\N	\N	EFO	5	EFO	nervous system disease	Perrault syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:2855	"" []	4396353	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Perrault syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:2855	"" []	4396354	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Perrault syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2855	"" []	6778720	\N	\N	EFO	10	EFO	material property	Perrault syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2855	"" []	4396356	\N	\N	EFO	6	EFO	disease	Perrault syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2855	"" []	5414066	\N	\N	EFO	7	EFO	genetic disorder	Perrault syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2855	"" []	5414067	\N	\N	EFO	7	EFO	metabolic disease	Perrault syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2855	"" []	7029914	\N	\N	EFO	11	EFO	experimental factor	Perrault syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2855	"" []	6150406	\N	\N	EFO	8	EFO	disease	Perrault syndrome
Orphanet:2856	\N	\N	"" []	Orphanet:2856	"" []	75792	\N	\N	EFO	0	EFO	Persistent Mllerian duct syndrome	Persistent Mllerian duct syndrome
Orphanet:400003	Orphanet:2856	\N	"" []	Orphanet:2856	"" []	218514	\N	\N	EFO	1	EFO	Rare genetic disorder with obstructive azoospermia	Persistent Mllerian duct syndrome
Orphanet:399998	Orphanet:400003	\N	"" []	Orphanet:2856	"" []	573631	\N	\N	EFO	2	EFO	Male infertility due to obstructive azoospermia of genetic origin	Persistent Mllerian duct syndrome
Orphanet:399980	Orphanet:399998	\N	"" []	Orphanet:2856	"" []	1156235	\N	\N	EFO	3	EFO	Rare genetic male infertility	Persistent Mllerian duct syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:2856	"" []	2039134	\N	\N	EFO	4	EFO	Genetic infertility	Persistent Mllerian duct syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2856	"" []	3189405	\N	\N	EFO	5	EFO	genetic disorder	Persistent Mllerian duct syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:2856	"" []	3189406	\N	\N	EFO	5	EFO	reproductive system disease	Persistent Mllerian duct syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2856	"" []	4396357	\N	\N	EFO	6	EFO	disease	Persistent Mllerian duct syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2856	"" []	4396358	\N	\N	EFO	6	EFO	disease	Persistent Mllerian duct syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2856	"" []	5414069	\N	\N	EFO	7	EFO	disposition	Persistent Mllerian duct syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2856	"" []	6150407	\N	\N	EFO	8	EFO	material property	Persistent Mllerian duct syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2856	"" []	6633148	\N	\N	EFO	9	EFO	experimental factor	Persistent Mllerian duct syndrome
Orphanet:285657	\N	\N	"" []	Orphanet:285657	"" []	75793	\N	\N	EFO	0	EFO	Disorder of folate metabolism and transport	Disorder of folate metabolism and transport
Orphanet:309827	Orphanet:285657	\N	"" []	Orphanet:285657	"" []	218515	\N	\N	EFO	1	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Disorder of folate metabolism and transport
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:285657	"" []	573632	\N	\N	EFO	2	EFO	Disorder of metabolite absorption and transport	Disorder of folate metabolism and transport
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:285657	"" []	1156236	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of folate metabolism and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:285657	"" []	2039135	\N	\N	EFO	4	EFO	genetic disorder	Disorder of folate metabolism and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:285657	"" []	2039136	\N	\N	EFO	4	EFO	metabolic disease	Disorder of folate metabolism and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:285657	"" []	3189407	\N	\N	EFO	5	EFO	disease	Disorder of folate metabolism and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:285657	"" []	3189408	\N	\N	EFO	5	EFO	disease	Disorder of folate metabolism and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:285657	"" []	4396359	\N	\N	EFO	6	EFO	disposition	Disorder of folate metabolism and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:285657	"" []	5414070	\N	\N	EFO	7	EFO	material property	Disorder of folate metabolism and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:285657	"" []	6150408	\N	\N	EFO	8	EFO	experimental factor	Disorder of folate metabolism and transport
Orphanet:286	\N	\N	"" []	Orphanet:286	"" []	75794	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, vascular type	Ehlers-Danlos syndrome, vascular type
Orphanet:285014	Orphanet:286	\N	"" []	Orphanet:286	"" []	218516	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Ehlers-Danlos syndrome, vascular type
Orphanet:98249	Orphanet:286	\N	"" []	Orphanet:286	"" []	218517	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, vascular type
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:286	"" []	573633	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Ehlers-Danlos syndrome, vascular type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:286	"" []	573634	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, vascular type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:286	"" []	573635	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, vascular type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:286	"" []	573636	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, vascular type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:286	"" []	573637	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, vascular type
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:286	"" []	1156237	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, vascular type
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:286	"" []	1156238	\N	\N	EFO	3	EFO	vascular disease	Ehlers-Danlos syndrome, vascular type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:286	"" []	1156239	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, vascular type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:286	"" []	1156240	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, vascular type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:286	"" []	1156241	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, vascular type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:286	"" []	1156242	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, vascular type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:286	"" []	4396361	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, vascular type
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:286	"" []	2039138	\N	\N	EFO	4	EFO	cardiovascular disease	Ehlers-Danlos syndrome, vascular type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:286	"" []	2039139	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, vascular type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:286	"" []	2039140	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, vascular type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:286	"" []	5059906	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, vascular type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:286	"" []	3189410	\N	\N	EFO	5	EFO	disease	Ehlers-Danlos syndrome, vascular type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:286	"" []	3189412	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, vascular type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:286	"" []	3189413	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, vascular type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:286	"" []	5877223	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, vascular type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:286	"" []	4396362	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, vascular type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:286	"" []	6470454	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, vascular type
Orphanet:2863	\N	\N	"" []	Orphanet:2863	"" []	75795	\N	\N	EFO	0	EFO	Short stature - wormian bones - dextrocardia	Short stature - wormian bones - dextrocardia
Orphanet:330197	Orphanet:2863	\N	"" []	Orphanet:2863	"" []	218518	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Short stature - wormian bones - dextrocardia
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:2863	"" []	573638	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Short stature - wormian bones - dextrocardia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2863	"" []	1156243	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Short stature - wormian bones - dextrocardia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2863	"" []	2039141	\N	\N	EFO	4	EFO	genetic disorder	Short stature - wormian bones - dextrocardia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2863	"" []	3189414	\N	\N	EFO	5	EFO	disease	Short stature - wormian bones - dextrocardia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2863	"" []	4396363	\N	\N	EFO	6	EFO	disposition	Short stature - wormian bones - dextrocardia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2863	"" []	5414072	\N	\N	EFO	7	EFO	material property	Short stature - wormian bones - dextrocardia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2863	"" []	6150409	\N	\N	EFO	8	EFO	experimental factor	Short stature - wormian bones - dextrocardia
Orphanet:2865	\N	\N	"" []	Orphanet:2865	"" []	75796	\N	\N	EFO	0	EFO	Short stature - webbed neck - heart disease	Short stature - webbed neck - heart disease
Orphanet:102283	Orphanet:2865	\N	"" []	Orphanet:2865	"" []	218519	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Short stature - webbed neck - heart disease
Orphanet:183763	Orphanet:2865	\N	"" []	Orphanet:2865	"" []	218520	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Short stature - webbed neck - heart disease
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2865	"" []	573639	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Short stature - webbed neck - heart disease
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2865	"" []	573640	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Short stature - webbed neck - heart disease
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2865	"" []	1156244	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Short stature - webbed neck - heart disease
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2865	"" []	1156245	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Short stature - webbed neck - heart disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2865	"" []	2039142	\N	\N	EFO	4	EFO	genetic disorder	Short stature - webbed neck - heart disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2865	"" []	2039143	\N	\N	EFO	4	EFO	genetic disorder	Short stature - webbed neck - heart disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2865	"" []	3189415	\N	\N	EFO	5	EFO	disease	Short stature - webbed neck - heart disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2865	"" []	4396364	\N	\N	EFO	6	EFO	disposition	Short stature - webbed neck - heart disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2865	"" []	5414073	\N	\N	EFO	7	EFO	material property	Short stature - webbed neck - heart disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2865	"" []	6150410	\N	\N	EFO	8	EFO	experimental factor	Short stature - webbed neck - heart disease
Orphanet:2866	\N	\N	"" []	Orphanet:2866	"" []	75797	\N	\N	EFO	0	EFO	Short stature - deafness - neutrophil dysfunction - dysmorphism	Short stature - deafness - neutrophil dysfunction - dysmorphism
Orphanet:90642	Orphanet:2866	\N	"" []	Orphanet:2866	"" []	218521	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Short stature - deafness - neutrophil dysfunction - dysmorphism
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2866	"" []	573641	\N	\N	EFO	2	EFO	Rare genetic deafness	Short stature - deafness - neutrophil dysfunction - dysmorphism
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2866	"" []	1156246	\N	\N	EFO	3	EFO	genetic disorder	Short stature - deafness - neutrophil dysfunction - dysmorphism
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2866	"" []	1156247	\N	\N	EFO	3	EFO	auditory system disease	Short stature - deafness - neutrophil dysfunction - dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2866	"" []	2039144	\N	\N	EFO	4	EFO	disease	Short stature - deafness - neutrophil dysfunction - dysmorphism
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2866	"" []	2039145	\N	\N	EFO	4	EFO	sensory system disease	Short stature - deafness - neutrophil dysfunction - dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2866	"" []	5414075	\N	\N	EFO	7	EFO	disposition	Short stature - deafness - neutrophil dysfunction - dysmorphism
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2866	"" []	3189417	\N	\N	EFO	5	EFO	nervous system disease	Short stature - deafness - neutrophil dysfunction - dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2866	"" []	5877224	\N	\N	EFO	8	EFO	material property	Short stature - deafness - neutrophil dysfunction - dysmorphism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2866	"" []	4396366	\N	\N	EFO	6	EFO	disease	Short stature - deafness - neutrophil dysfunction - dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2866	"" []	6470455	\N	\N	EFO	9	EFO	experimental factor	Short stature - deafness - neutrophil dysfunction - dysmorphism
Orphanet:2867	\N	\N	"" []	Orphanet:2867	"" []	75798	\N	\N	EFO	0	EFO	Short stature, Brussels type	Short stature, Brussels type
Orphanet:93450	Orphanet:2867	\N	"" []	Orphanet:2867	"" []	218522	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Short stature, Brussels type
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:2867	"" []	573642	\N	\N	EFO	2	EFO	Primary bone dysplasia	Short stature, Brussels type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2867	"" []	1156248	\N	\N	EFO	3	EFO	Rare genetic bone disease	Short stature, Brussels type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2867	"" []	1156249	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Short stature, Brussels type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2867	"" []	2039146	\N	\N	EFO	4	EFO	genetic disorder	Short stature, Brussels type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2867	"" []	2039147	\N	\N	EFO	4	EFO	bone disease	Short stature, Brussels type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2867	"" []	2039148	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Short stature, Brussels type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2867	"" []	4396369	\N	\N	EFO	6	EFO	disease	Short stature, Brussels type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2867	"" []	3189419	\N	\N	EFO	5	EFO	skeletal system disease	Short stature, Brussels type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2867	"" []	3189420	\N	\N	EFO	5	EFO	genetic disorder	Short stature, Brussels type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2867	"" []	5182423	\N	\N	EFO	7	EFO	disposition	Short stature, Brussels type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2867	"" []	4396368	\N	\N	EFO	6	EFO	disease	Short stature, Brussels type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2867	"" []	5997768	\N	\N	EFO	8	EFO	material property	Short stature, Brussels type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2867	"" []	6551077	\N	\N	EFO	9	EFO	experimental factor	Short stature, Brussels type
Orphanet:2868	\N	\N	"" []	Orphanet:2868	"" []	75799	\N	\N	EFO	0	EFO	Short stature - valvular heart disease - characteristic facies	Short stature - valvular heart disease - characteristic facies
Orphanet:330206	Orphanet:2868	\N	"" []	Orphanet:2868	"" []	218523	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Short stature - valvular heart disease - characteristic facies
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2868	"" []	573643	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Short stature - valvular heart disease - characteristic facies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2868	"" []	1156250	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Short stature - valvular heart disease - characteristic facies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2868	"" []	2039149	\N	\N	EFO	4	EFO	genetic disorder	Short stature - valvular heart disease - characteristic facies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2868	"" []	3189421	\N	\N	EFO	5	EFO	disease	Short stature - valvular heart disease - characteristic facies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2868	"" []	4396370	\N	\N	EFO	6	EFO	disposition	Short stature - valvular heart disease - characteristic facies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2868	"" []	5414077	\N	\N	EFO	7	EFO	material property	Short stature - valvular heart disease - characteristic facies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2868	"" []	6150412	\N	\N	EFO	8	EFO	experimental factor	Short stature - valvular heart disease - characteristic facies
Orphanet:2869	\N	\N	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	75800	\N	\N	EFO	0	EFO	Peutz-Jeghers syndrome	Peutz-Jeghers syndrome
EFO:0004198	Orphanet:2869	\N	"Tumors or cancer of the SKIN." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	218524	\N	\N	EFO	1	EFO	skin neoplasm	Peutz-Jeghers syndrome
Orphanet:183422	Orphanet:2869	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	218525	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Peutz-Jeghers syndrome
Orphanet:183466	Orphanet:2869	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	218526	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Peutz-Jeghers syndrome
Orphanet:271835	Orphanet:2869	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	218527	\N	\N	EFO	1	EFO	Genetic digestive tract tumor	Peutz-Jeghers syndrome
Orphanet:363314	Orphanet:2869	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	218528	\N	\N	EFO	1	EFO	Genetic intestinal polyposis	Peutz-Jeghers syndrome
Orphanet:98196	Orphanet:2869	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	218529	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Peutz-Jeghers syndrome
Orphanet:98587	Orphanet:2869	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	218530	\N	\N	EFO	1	EFO	Palpebral lentiginosis	Peutz-Jeghers syndrome
Orphanet:98615	Orphanet:2869	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	218531	\N	\N	EFO	1	EFO	Pigmented conjunctival lesion	Peutz-Jeghers syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	573644	\N	\N	EFO	2	EFO	neoplasm	Peutz-Jeghers syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	573645	\N	\N	EFO	2	EFO	skin disease	Peutz-Jeghers syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	573646	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Peutz-Jeghers syndrome
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	573647	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Peutz-Jeghers syndrome
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	573648	\N	\N	EFO	2	EFO	digestive system disease	Peutz-Jeghers syndrome
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	573649	\N	\N	EFO	2	EFO	Rare genetic tumor	Peutz-Jeghers syndrome
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	573650	\N	\N	EFO	2	EFO	Genetic intestinal disease	Peutz-Jeghers syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	573651	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Peutz-Jeghers syndrome
Orphanet:98586	Orphanet:98587	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	573652	\N	\N	EFO	2	EFO	Pigmented palpebral tumor	Peutz-Jeghers syndrome
Orphanet:98610	Orphanet:98615	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	573653	\N	\N	EFO	2	EFO	Rare conjunctival disease	Peutz-Jeghers syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	2039154	\N	\N	EFO	4	EFO	disease	Peutz-Jeghers syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	3189424	\N	\N	EFO	5	EFO	disease	Peutz-Jeghers syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	1156253	\N	\N	EFO	3	EFO	genetic disorder	Peutz-Jeghers syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	1156254	\N	\N	EFO	3	EFO	Rare genetic skin disease	Peutz-Jeghers syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	2039155	\N	\N	EFO	4	EFO	disease	Peutz-Jeghers syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	1156256	\N	\N	EFO	3	EFO	genetic disorder	Peutz-Jeghers syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	1156257	\N	\N	EFO	3	EFO	neoplasm	Peutz-Jeghers syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	1156258	\N	\N	EFO	3	EFO	digestive system disease	Peutz-Jeghers syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	1156259	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Peutz-Jeghers syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	1156260	\N	\N	EFO	3	EFO	genetic disorder	Peutz-Jeghers syndrome
Orphanet:98580	Orphanet:98586	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	1156261	\N	\N	EFO	3	EFO	Palpebral tumor	Peutz-Jeghers syndrome
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	1156262	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Peutz-Jeghers syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	6378917	\N	\N	EFO	9	EFO	disposition	Peutz-Jeghers syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	5877226	\N	\N	EFO	8	EFO	disease	Peutz-Jeghers syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	2039152	\N	\N	EFO	4	EFO	genetic disorder	Peutz-Jeghers syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	2039153	\N	\N	EFO	4	EFO	skin disease	Peutz-Jeghers syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	2039156	\N	\N	EFO	4	EFO	genetic disorder	Peutz-Jeghers syndrome
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	2039157	\N	\N	EFO	4	EFO	Rare palpebral disease	Peutz-Jeghers syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	4396372	\N	\N	EFO	6	EFO	Rare genetic eye disease	Peutz-Jeghers syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	6762381	\N	\N	EFO	10	EFO	material property	Peutz-Jeghers syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	3189425	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Peutz-Jeghers syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	5059909	\N	\N	EFO	7	EFO	genetic disorder	Peutz-Jeghers syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	5059910	\N	\N	EFO	7	EFO	eye disease	Peutz-Jeghers syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	7015693	\N	\N	EFO	11	EFO	experimental factor	Peutz-Jeghers syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2869	"Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." []	5877227	\N	\N	EFO	8	EFO	disease	Peutz-Jeghers syndrome
Orphanet:287	\N	\N	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	75801	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, classic type	Ehlers-Danlos syndrome, classic type
Orphanet:167762	Orphanet:287	\N	"" []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	218532	\N	\N	EFO	1	EFO	Rare disease with dentinogenesis imperfecta	Ehlers-Danlos syndrome, classic type
Orphanet:98249	Orphanet:287	\N	"" []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	218533	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, classic type
Orphanet:77830	Orphanet:167762	\N	"" []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	573654	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Ehlers-Danlos syndrome, classic type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	573655	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, classic type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	573656	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, classic type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	573657	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, classic type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	573658	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, classic type
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	1156263	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, classic type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	1156264	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, classic type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	1156265	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, classic type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	1156266	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, classic type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	1156267	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, classic type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	4396376	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, classic type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	2039160	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, classic type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	2039161	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, classic type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	5059911	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, classic type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	3189430	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, classic type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	3189431	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, classic type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	5877228	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, classic type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	4396377	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, classic type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:287	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	6470456	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, classic type
Orphanet:2871	\N	\N	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	75802	\N	\N	EFO	0	EFO	Pfeiffer-Palm-Teller syndrome	Pfeiffer-Palm-Teller syndrome
Orphanet:102283	Orphanet:2871	\N	"" []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	218534	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Pfeiffer-Palm-Teller syndrome
Orphanet:183763	Orphanet:2871	\N	"" []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	218535	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Pfeiffer-Palm-Teller syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	573659	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Pfeiffer-Palm-Teller syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	573660	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Pfeiffer-Palm-Teller syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	1156268	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pfeiffer-Palm-Teller syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	1156269	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pfeiffer-Palm-Teller syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	2039162	\N	\N	EFO	4	EFO	genetic disorder	Pfeiffer-Palm-Teller syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	2039163	\N	\N	EFO	4	EFO	genetic disorder	Pfeiffer-Palm-Teller syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	3189432	\N	\N	EFO	5	EFO	disease	Pfeiffer-Palm-Teller syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	4396378	\N	\N	EFO	6	EFO	disposition	Pfeiffer-Palm-Teller syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	5414079	\N	\N	EFO	7	EFO	material property	Pfeiffer-Palm-Teller syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2871	"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." []	6150413	\N	\N	EFO	8	EFO	experimental factor	Pfeiffer-Palm-Teller syndrome
Orphanet:2872	\N	\N	"" []	Orphanet:2872	"" []	75803	\N	\N	EFO	0	EFO	Cardiocranial syndrome, Pfeiffer type	Cardiocranial syndrome, Pfeiffer type
Orphanet:102283	Orphanet:2872	\N	"" []	Orphanet:2872	"" []	218536	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cardiocranial syndrome, Pfeiffer type
Orphanet:139393	Orphanet:2872	\N	"" []	Orphanet:2872	"" []	218537	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Cardiocranial syndrome, Pfeiffer type
Orphanet:183763	Orphanet:2872	\N	"" []	Orphanet:2872	"" []	218538	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cardiocranial syndrome, Pfeiffer type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2872	"" []	573661	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cardiocranial syndrome, Pfeiffer type
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:2872	"" []	573662	\N	\N	EFO	2	EFO	Craniosynostosis	Cardiocranial syndrome, Pfeiffer type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2872	"" []	573663	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cardiocranial syndrome, Pfeiffer type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2872	"" []	1156270	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cardiocranial syndrome, Pfeiffer type
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:2872	"" []	1156271	\N	\N	EFO	3	EFO	Genetic cranial malformation	Cardiocranial syndrome, Pfeiffer type
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:2872	"" []	1156272	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Cardiocranial syndrome, Pfeiffer type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2872	"" []	1156273	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cardiocranial syndrome, Pfeiffer type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2872	"" []	4396381	\N	\N	EFO	6	EFO	genetic disorder	Cardiocranial syndrome, Pfeiffer type
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:2872	"" []	2039165	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cardiocranial syndrome, Pfeiffer type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2872	"" []	2039166	\N	\N	EFO	4	EFO	Rare genetic bone disease	Cardiocranial syndrome, Pfeiffer type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2872	"" []	2039167	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Cardiocranial syndrome, Pfeiffer type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2872	"" []	2039168	\N	\N	EFO	4	EFO	genetic disorder	Cardiocranial syndrome, Pfeiffer type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2872	"" []	5059912	\N	\N	EFO	7	EFO	disease	Cardiocranial syndrome, Pfeiffer type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2872	"" []	3189435	\N	\N	EFO	5	EFO	genetic disorder	Cardiocranial syndrome, Pfeiffer type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2872	"" []	3189436	\N	\N	EFO	5	EFO	bone disease	Cardiocranial syndrome, Pfeiffer type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2872	"" []	3189437	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cardiocranial syndrome, Pfeiffer type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2872	"" []	5877229	\N	\N	EFO	8	EFO	disposition	Cardiocranial syndrome, Pfeiffer type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2872	"" []	4396380	\N	\N	EFO	6	EFO	skeletal system disease	Cardiocranial syndrome, Pfeiffer type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2872	"" []	6470457	\N	\N	EFO	9	EFO	material property	Cardiocranial syndrome, Pfeiffer type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2872	"" []	5414081	\N	\N	EFO	7	EFO	disease	Cardiocranial syndrome, Pfeiffer type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2872	"" []	6848539	\N	\N	EFO	10	EFO	experimental factor	Cardiocranial syndrome, Pfeiffer type
Orphanet:2874	\N	\N	"" []	Orphanet:2874	"" []	75804	\N	\N	EFO	0	EFO	Phakomatosis pigmentokeratotica	Phakomatosis pigmentokeratotica
Orphanet:183487	Orphanet:2874	\N	"" []	Orphanet:2874	"" []	218539	\N	\N	EFO	1	EFO	Genetic skin tumor	Phakomatosis pigmentokeratotica
Orphanet:98196	Orphanet:2874	\N	"" []	Orphanet:2874	"" []	218540	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Phakomatosis pigmentokeratotica
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:2874	"" []	573664	\N	\N	EFO	2	EFO	skin neoplasm	Phakomatosis pigmentokeratotica
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:2874	"" []	573665	\N	\N	EFO	2	EFO	Rare genetic tumor	Phakomatosis pigmentokeratotica
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:2874	"" []	573666	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Phakomatosis pigmentokeratotica
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2874	"" []	1156274	\N	\N	EFO	3	EFO	neoplasm	Phakomatosis pigmentokeratotica
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2874	"" []	1156275	\N	\N	EFO	3	EFO	skin disease	Phakomatosis pigmentokeratotica
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2874	"" []	1156276	\N	\N	EFO	3	EFO	genetic disorder	Phakomatosis pigmentokeratotica
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2874	"" []	1156277	\N	\N	EFO	3	EFO	neoplasm	Phakomatosis pigmentokeratotica
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2874	"" []	1156278	\N	\N	EFO	3	EFO	genetic disorder	Phakomatosis pigmentokeratotica
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2874	"" []	2039169	\N	\N	EFO	4	EFO	disease	Phakomatosis pigmentokeratotica
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2874	"" []	2039170	\N	\N	EFO	4	EFO	disease	Phakomatosis pigmentokeratotica
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2874	"" []	2039171	\N	\N	EFO	4	EFO	disease	Phakomatosis pigmentokeratotica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2874	"" []	3189438	\N	\N	EFO	5	EFO	disposition	Phakomatosis pigmentokeratotica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2874	"" []	4396382	\N	\N	EFO	6	EFO	material property	Phakomatosis pigmentokeratotica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2874	"" []	5414082	\N	\N	EFO	7	EFO	experimental factor	Phakomatosis pigmentokeratotica
Orphanet:2875	\N	\N	"" []	Orphanet:2875	"" []	75805	\N	\N	EFO	0	EFO	Phakomatosis pigmentovascularis	Phakomatosis pigmentovascularis
Orphanet:108987	Orphanet:2875	\N	"" []	Orphanet:2875	"" []	218541	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Phakomatosis pigmentovascularis
Orphanet:183466	Orphanet:2875	\N	"" []	Orphanet:2875	"" []	218542	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Phakomatosis pigmentovascularis
Orphanet:98196	Orphanet:2875	\N	"" []	Orphanet:2875	"" []	218543	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Phakomatosis pigmentovascularis
Orphanet:98638	Orphanet:2875	\N	"" []	Orphanet:2875	"" []	218544	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Phakomatosis pigmentovascularis
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2875	"" []	573667	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Phakomatosis pigmentovascularis
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:2875	"" []	573668	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Phakomatosis pigmentovascularis
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:2875	"" []	573669	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Phakomatosis pigmentovascularis
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:2875	"" []	573670	\N	\N	EFO	2	EFO	Rare genetic eye disease	Phakomatosis pigmentovascularis
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2875	"" []	1156279	\N	\N	EFO	3	EFO	Rare genetic eye disease	Phakomatosis pigmentovascularis
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2875	"" []	1156280	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Phakomatosis pigmentovascularis
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:2875	"" []	1156281	\N	\N	EFO	3	EFO	Rare genetic skin disease	Phakomatosis pigmentovascularis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2875	"" []	2039174	\N	\N	EFO	4	EFO	genetic disorder	Phakomatosis pigmentovascularis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2875	"" []	2039172	\N	\N	EFO	4	EFO	genetic disorder	Phakomatosis pigmentovascularis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2875	"" []	2039173	\N	\N	EFO	4	EFO	eye disease	Phakomatosis pigmentovascularis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2875	"" []	2039175	\N	\N	EFO	4	EFO	genetic disorder	Phakomatosis pigmentovascularis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2875	"" []	2039176	\N	\N	EFO	4	EFO	skin disease	Phakomatosis pigmentovascularis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2875	"" []	3000278	\N	\N	EFO	5	EFO	disease	Phakomatosis pigmentovascularis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2875	"" []	3000279	\N	\N	EFO	5	EFO	disease	Phakomatosis pigmentovascularis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2875	"" []	3189439	\N	\N	EFO	5	EFO	disease	Phakomatosis pigmentovascularis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2875	"" []	4133782	\N	\N	EFO	6	EFO	disposition	Phakomatosis pigmentovascularis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2875	"" []	5182427	\N	\N	EFO	7	EFO	material property	Phakomatosis pigmentovascularis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2875	"" []	5997771	\N	\N	EFO	8	EFO	experimental factor	Phakomatosis pigmentovascularis
Orphanet:2876	\N	\N	"Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." []	Orphanet:2876	"Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." []	75806	\N	\N	EFO	0	EFO	PHAVER syndrome	PHAVER syndrome
Orphanet:330206	Orphanet:2876	\N	"" []	Orphanet:2876	"Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." []	218545	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	PHAVER syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2876	"Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." []	573671	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	PHAVER syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2876	"Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." []	1156285	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	PHAVER syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2876	"Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." []	2039179	\N	\N	EFO	4	EFO	genetic disorder	PHAVER syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2876	"Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." []	3189441	\N	\N	EFO	5	EFO	disease	PHAVER syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2876	"Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." []	4396384	\N	\N	EFO	6	EFO	disposition	PHAVER syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2876	"Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." []	5414084	\N	\N	EFO	7	EFO	material property	PHAVER syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2876	"Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." []	6150415	\N	\N	EFO	8	EFO	experimental factor	PHAVER syndrome
Orphanet:2878	\N	\N	"" []	Orphanet:2878	"" []	75807	\N	\N	EFO	0	EFO	Phocomelia - ectrodactyly - deafness - sinus arrhythmia	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Orphanet:404574	Orphanet:2878	\N	"" []	Orphanet:2878	"" []	218546	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Orphanet:90642	Orphanet:2878	\N	"" []	Orphanet:2878	"" []	218547	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2878	"" []	573672	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2878	"" []	573673	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:2878	"" []	573674	\N	\N	EFO	2	EFO	Rare genetic deafness	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2878	"" []	1156286	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2878	"" []	1156287	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2878	"" []	1156288	\N	\N	EFO	3	EFO	genetic disorder	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:2878	"" []	1156289	\N	\N	EFO	3	EFO	auditory system disease	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2878	"" []	2039180	\N	\N	EFO	4	EFO	Rare genetic bone disease	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2878	"" []	2039181	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2878	"" []	2039182	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2878	"" []	5182428	\N	\N	EFO	7	EFO	disease	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:2878	"" []	2039184	\N	\N	EFO	4	EFO	sensory system disease	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2878	"" []	3189442	\N	\N	EFO	5	EFO	genetic disorder	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2878	"" []	3189443	\N	\N	EFO	5	EFO	bone disease	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2878	"" []	3189444	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2878	"" []	4396387	\N	\N	EFO	6	EFO	genetic disorder	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2878	"" []	5817678	\N	\N	EFO	8	EFO	disposition	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2878	"" []	3189447	\N	\N	EFO	5	EFO	nervous system disease	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2878	"" []	4396386	\N	\N	EFO	6	EFO	skeletal system disease	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2878	"" []	6410089	\N	\N	EFO	9	EFO	material property	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2878	"" []	4396389	\N	\N	EFO	6	EFO	disease	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2878	"" []	5414085	\N	\N	EFO	7	EFO	disease	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2878	"" []	6807930	\N	\N	EFO	10	EFO	experimental factor	Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Orphanet:2879	\N	\N	"" []	Orphanet:2879	"" []	75808	\N	\N	EFO	0	EFO	Phocomelia, Schinzel type	Phocomelia, Schinzel type
Orphanet:404574	Orphanet:2879	\N	"" []	Orphanet:2879	"" []	218548	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Phocomelia, Schinzel type
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:2879	"" []	573675	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Phocomelia, Schinzel type
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:2879	"" []	573676	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Phocomelia, Schinzel type
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2879	"" []	1156290	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Phocomelia, Schinzel type
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2879	"" []	1156291	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Phocomelia, Schinzel type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2879	"" []	2039185	\N	\N	EFO	4	EFO	Rare genetic bone disease	Phocomelia, Schinzel type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2879	"" []	2039186	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Phocomelia, Schinzel type
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2879	"" []	2039187	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Phocomelia, Schinzel type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2879	"" []	3189448	\N	\N	EFO	5	EFO	genetic disorder	Phocomelia, Schinzel type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2879	"" []	3189449	\N	\N	EFO	5	EFO	bone disease	Phocomelia, Schinzel type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2879	"" []	3189450	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Phocomelia, Schinzel type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2879	"" []	4396392	\N	\N	EFO	6	EFO	genetic disorder	Phocomelia, Schinzel type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2879	"" []	5182429	\N	\N	EFO	7	EFO	disease	Phocomelia, Schinzel type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2879	"" []	4396391	\N	\N	EFO	6	EFO	skeletal system disease	Phocomelia, Schinzel type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2879	"" []	5997772	\N	\N	EFO	8	EFO	disposition	Phocomelia, Schinzel type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2879	"" []	5414088	\N	\N	EFO	7	EFO	disease	Phocomelia, Schinzel type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2879	"" []	6551079	\N	\N	EFO	9	EFO	material property	Phocomelia, Schinzel type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2879	"" []	6889223	\N	\N	EFO	10	EFO	experimental factor	Phocomelia, Schinzel type
Orphanet:288	\N	\N	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	Orphanet:288	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	75809	\N	\N	EFO	0	EFO	Hereditary elliptocytosis	Hereditary elliptocytosis
Orphanet:98364	Orphanet:288	\N	"" []	Orphanet:288	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	218549	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Hereditary elliptocytosis
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:288	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	573677	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Hereditary elliptocytosis
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:288	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	1156292	\N	\N	EFO	3	EFO	Rare constitutional anemia	Hereditary elliptocytosis
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:288	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	2039188	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hereditary elliptocytosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:288	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	3189452	\N	\N	EFO	5	EFO	genetic disorder	Hereditary elliptocytosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:288	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	3189453	\N	\N	EFO	5	EFO	hematological system disease	Hereditary elliptocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:288	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	4396393	\N	\N	EFO	6	EFO	disease	Hereditary elliptocytosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:288	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	4396394	\N	\N	EFO	6	EFO	disease	Hereditary elliptocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:288	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	5414089	\N	\N	EFO	7	EFO	disposition	Hereditary elliptocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:288	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	6150417	\N	\N	EFO	8	EFO	material property	Hereditary elliptocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:288	"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." []	6633150	\N	\N	EFO	9	EFO	experimental factor	Hereditary elliptocytosis
Orphanet:2880	\N	\N	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	Orphanet:2880	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	75810	\N	\N	EFO	0	EFO	Phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase deficiency
Orphanet:79177	Orphanet:2880	\N	"" []	Orphanet:2880	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	218550	\N	\N	EFO	1	EFO	Gluconeogenesis disorder	Phosphoenolpyruvate carboxykinase deficiency
Orphanet:79161	Orphanet:79177	\N	"" []	Orphanet:2880	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	573678	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Phosphoenolpyruvate carboxykinase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:2880	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	1156293	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Phosphoenolpyruvate carboxykinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2880	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	2039189	\N	\N	EFO	4	EFO	genetic disorder	Phosphoenolpyruvate carboxykinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2880	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	2039190	\N	\N	EFO	4	EFO	metabolic disease	Phosphoenolpyruvate carboxykinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2880	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	3189454	\N	\N	EFO	5	EFO	disease	Phosphoenolpyruvate carboxykinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2880	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	3189455	\N	\N	EFO	5	EFO	disease	Phosphoenolpyruvate carboxykinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2880	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	4396395	\N	\N	EFO	6	EFO	disposition	Phosphoenolpyruvate carboxykinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2880	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	5414090	\N	\N	EFO	7	EFO	material property	Phosphoenolpyruvate carboxykinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2880	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	6150418	\N	\N	EFO	8	EFO	experimental factor	Phosphoenolpyruvate carboxykinase deficiency
Orphanet:2882	\N	\N	"" []	Orphanet:2882	"" []	75811	\N	\N	EFO	0	EFO	Sitosterolemia	Sitosterolemia
Orphanet:181437	Orphanet:2882	\N	"" []	Orphanet:2882	"" []	218551	\N	\N	EFO	1	EFO	Rare syndromic dyslipidemia	Sitosterolemia
Orphanet:101953	Orphanet:181437	\N	"" []	Orphanet:2882	"" []	573679	\N	\N	EFO	2	EFO	Rare dyslipidemia	Sitosterolemia
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:2882	"" []	1156294	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Sitosterolemia
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:2882	"" []	1156295	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Sitosterolemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2882	"" []	2039191	\N	\N	EFO	4	EFO	genetic disorder	Sitosterolemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2882	"" []	2039192	\N	\N	EFO	4	EFO	endocrine system disease	Sitosterolemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:2882	"" []	2039193	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Sitosterolemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2882	"" []	4396397	\N	\N	EFO	6	EFO	disease	Sitosterolemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2882	"" []	3189457	\N	\N	EFO	5	EFO	disease	Sitosterolemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2882	"" []	3189458	\N	\N	EFO	5	EFO	genetic disorder	Sitosterolemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2882	"" []	3189459	\N	\N	EFO	5	EFO	metabolic disease	Sitosterolemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2882	"" []	5182430	\N	\N	EFO	7	EFO	disposition	Sitosterolemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2882	"" []	4396398	\N	\N	EFO	6	EFO	disease	Sitosterolemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2882	"" []	5997773	\N	\N	EFO	8	EFO	material property	Sitosterolemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2882	"" []	6551080	\N	\N	EFO	9	EFO	experimental factor	Sitosterolemia
Orphanet:2884	\N	\N	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	75812	\N	\N	EFO	0	EFO	Piebaldism	Piebaldism
Orphanet:183469	Orphanet:2884	\N	"" []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	218552	\N	\N	EFO	1	EFO	Genetic hypopigmentation of the skin	Piebaldism
Orphanet:98601	Orphanet:2884	\N	"" []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	218553	\N	\N	EFO	1	EFO	Eyebrow/eyelashes pigmentation anomaly	Piebaldism
Orphanet:98708	Orphanet:2884	\N	"" []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	218554	\N	\N	EFO	1	EFO	Pigmentation disorder with eye involvement, excluding albinism	Piebaldism
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	573680	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Piebaldism
Orphanet:98594	Orphanet:98601	\N	"" []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	573681	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Piebaldism
Orphanet:98700	Orphanet:98708	\N	"" []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	573682	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement	Piebaldism
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	1156296	\N	\N	EFO	3	EFO	Rare genetic skin disease	Piebaldism
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	1156297	\N	\N	EFO	3	EFO	Rare palpebral disease	Piebaldism
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	1156298	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Piebaldism
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	2039194	\N	\N	EFO	4	EFO	genetic disorder	Piebaldism
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	2039195	\N	\N	EFO	4	EFO	skin disease	Piebaldism
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	2039196	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Piebaldism
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	2039197	\N	\N	EFO	4	EFO	Rare genetic eye disease	Piebaldism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	5182432	\N	\N	EFO	7	EFO	disease	Piebaldism
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	3189461	\N	\N	EFO	5	EFO	disease	Piebaldism
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	3189462	\N	\N	EFO	5	EFO	Rare genetic eye disease	Piebaldism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	4396400	\N	\N	EFO	6	EFO	genetic disorder	Piebaldism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	4396401	\N	\N	EFO	6	EFO	eye disease	Piebaldism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	5877231	\N	\N	EFO	8	EFO	disposition	Piebaldism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	5182433	\N	\N	EFO	7	EFO	disease	Piebaldism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	6470459	\N	\N	EFO	9	EFO	material property	Piebaldism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2884	"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." []	6848540	\N	\N	EFO	10	EFO	experimental factor	Piebaldism
Orphanet:2885	\N	\N	"" []	Orphanet:2885	"" []	75813	\N	\N	EFO	0	EFO	Piebald trait - neurologic defects	Piebald trait - neurologic defects
Orphanet:183469	Orphanet:2885	\N	"" []	Orphanet:2885	"" []	218555	\N	\N	EFO	1	EFO	Genetic hypopigmentation of the skin	Piebald trait - neurologic defects
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:2885	"" []	573683	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Piebald trait - neurologic defects
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:2885	"" []	1156299	\N	\N	EFO	3	EFO	Rare genetic skin disease	Piebald trait - neurologic defects
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2885	"" []	2039198	\N	\N	EFO	4	EFO	genetic disorder	Piebald trait - neurologic defects
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2885	"" []	2039199	\N	\N	EFO	4	EFO	skin disease	Piebald trait - neurologic defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2885	"" []	3189465	\N	\N	EFO	5	EFO	disease	Piebald trait - neurologic defects
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2885	"" []	3189466	\N	\N	EFO	5	EFO	disease	Piebald trait - neurologic defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2885	"" []	4396404	\N	\N	EFO	6	EFO	disposition	Piebald trait - neurologic defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2885	"" []	5414093	\N	\N	EFO	7	EFO	material property	Piebald trait - neurologic defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2885	"" []	6150421	\N	\N	EFO	8	EFO	experimental factor	Piebald trait - neurologic defects
Orphanet:2886	\N	\N	"" []	Orphanet:2886	"" []	75814	\N	\N	EFO	0	EFO	TARP syndrome	TARP syndrome
Orphanet:156532	Orphanet:2886	\N	"" []	Orphanet:2886	"" []	218556	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	TARP syndrome
Orphanet:363294	Orphanet:2886	\N	"" []	Orphanet:2886	"" []	218557	\N	\N	EFO	1	EFO	Genetic syndromic Pierre Robin syndrome	TARP syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:2886	"" []	573684	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	TARP syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:2886	"" []	573685	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	TARP syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2886	"" []	1156300	\N	\N	EFO	3	EFO	genetic disorder	TARP syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2886	"" []	1156301	\N	\N	EFO	3	EFO	heart disease	TARP syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2886	"" []	1156302	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	TARP syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2886	"" []	5414095	\N	\N	EFO	7	EFO	disease	TARP syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:2886	"" []	2039201	\N	\N	EFO	4	EFO	cardiovascular disease	TARP syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2886	"" []	2039202	\N	\N	EFO	4	EFO	Genetic head and neck malformation	TARP syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2886	"" []	5817679	\N	\N	EFO	8	EFO	disposition	TARP syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2886	"" []	3189468	\N	\N	EFO	5	EFO	disease	TARP syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2886	"" []	3189469	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	TARP syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2886	"" []	6410090	\N	\N	EFO	9	EFO	material property	TARP syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2886	"" []	4396407	\N	\N	EFO	6	EFO	genetic disorder	TARP syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2886	"" []	6807931	\N	\N	EFO	10	EFO	experimental factor	TARP syndrome
Orphanet:2888	\N	\N	"" []	Orphanet:2888	"" []	75815	\N	\N	EFO	0	EFO	Pierre Robin syndrome - faciodigital anomaly	Pierre Robin syndrome - faciodigital anomaly
Orphanet:139039	Orphanet:2888	\N	"" []	Orphanet:2888	"" []	218558	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Pierre Robin syndrome - faciodigital anomaly
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2888	"" []	573686	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Pierre Robin syndrome - faciodigital anomaly
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2888	"" []	1156303	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Pierre Robin syndrome - faciodigital anomaly
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2888	"" []	2039203	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Pierre Robin syndrome - faciodigital anomaly
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2888	"" []	3189470	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pierre Robin syndrome - faciodigital anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2888	"" []	4396408	\N	\N	EFO	6	EFO	genetic disorder	Pierre Robin syndrome - faciodigital anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2888	"" []	5414096	\N	\N	EFO	7	EFO	disease	Pierre Robin syndrome - faciodigital anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2888	"" []	6150422	\N	\N	EFO	8	EFO	disposition	Pierre Robin syndrome - faciodigital anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2888	"" []	6633151	\N	\N	EFO	9	EFO	material property	Pierre Robin syndrome - faciodigital anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2888	"" []	6925857	\N	\N	EFO	10	EFO	experimental factor	Pierre Robin syndrome - faciodigital anomaly
Orphanet:2889	\N	\N	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	Orphanet:2889	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	75816	\N	\N	EFO	0	EFO	Pili torti	Pili torti
Orphanet:79366	Orphanet:2889	\N	"" []	Orphanet:2889	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	218559	\N	\N	EFO	1	EFO	Isolated hair shaft abnormality	Pili torti
Orphanet:183450	Orphanet:79366	\N	"" []	Orphanet:2889	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	573687	\N	\N	EFO	2	EFO	Genetic hair anomaly	Pili torti
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:2889	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	1156304	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Pili torti
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2889	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	2039204	\N	\N	EFO	4	EFO	Rare genetic skin disease	Pili torti
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2889	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	3189471	\N	\N	EFO	5	EFO	genetic disorder	Pili torti
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2889	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	3189472	\N	\N	EFO	5	EFO	skin disease	Pili torti
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2889	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	4396409	\N	\N	EFO	6	EFO	disease	Pili torti
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2889	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	4396410	\N	\N	EFO	6	EFO	disease	Pili torti
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2889	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	5414097	\N	\N	EFO	7	EFO	disposition	Pili torti
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2889	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	6150423	\N	\N	EFO	8	EFO	material property	Pili torti
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2889	"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." []	6633152	\N	\N	EFO	9	EFO	experimental factor	Pili torti
Orphanet:289	\N	\N	"" []	Orphanet:289	"" []	75817	\N	\N	EFO	0	EFO	Ellis Van Creveld syndrome	Ellis Van Creveld syndrome
Orphanet:1505	Orphanet:289	\N	"" []	Orphanet:289	"" []	218560	\N	\N	EFO	1	EFO	Short rib-polydactyly syndrome	Ellis Van Creveld syndrome
Orphanet:156532	Orphanet:289	\N	"" []	Orphanet:289	"" []	218561	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Ellis Van Creveld syndrome
Orphanet:79373	Orphanet:289	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:289	"" []	218562	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ellis Van Creveld syndrome
Orphanet:93426	Orphanet:1505	\N	"" []	Orphanet:289	"" []	573688	\N	\N	EFO	2	EFO	Short rib dysplasia	Ellis Van Creveld syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:289	"" []	573689	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Ellis Van Creveld syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:289	"" []	573690	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ellis Van Creveld syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:289	"" []	573691	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ellis Van Creveld syndrome
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:289	"" []	1156305	\N	\N	EFO	3	EFO	Primary bone dysplasia	Ellis Van Creveld syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289	"" []	1156306	\N	\N	EFO	3	EFO	genetic disorder	Ellis Van Creveld syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:289	"" []	1156307	\N	\N	EFO	3	EFO	heart disease	Ellis Van Creveld syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:289	"" []	1156308	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ellis Van Creveld syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:289	"" []	1156309	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ellis Van Creveld syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:289	"" []	2039205	\N	\N	EFO	4	EFO	Rare genetic bone disease	Ellis Van Creveld syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:289	"" []	2039206	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Ellis Van Creveld syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289	"" []	5059915	\N	\N	EFO	7	EFO	disease	Ellis Van Creveld syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:289	"" []	2039208	\N	\N	EFO	4	EFO	cardiovascular disease	Ellis Van Creveld syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289	"" []	4396413	\N	\N	EFO	6	EFO	genetic disorder	Ellis Van Creveld syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289	"" []	2039210	\N	\N	EFO	4	EFO	genetic disorder	Ellis Van Creveld syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:289	"" []	2039211	\N	\N	EFO	4	EFO	skin disease	Ellis Van Creveld syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289	"" []	3189473	\N	\N	EFO	5	EFO	genetic disorder	Ellis Van Creveld syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:289	"" []	3189474	\N	\N	EFO	5	EFO	bone disease	Ellis Van Creveld syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:289	"" []	3189475	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ellis Van Creveld syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289	"" []	5817680	\N	\N	EFO	8	EFO	disposition	Ellis Van Creveld syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289	"" []	3189477	\N	\N	EFO	5	EFO	disease	Ellis Van Creveld syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289	"" []	3189479	\N	\N	EFO	5	EFO	disease	Ellis Van Creveld syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:289	"" []	4396412	\N	\N	EFO	6	EFO	skeletal system disease	Ellis Van Creveld syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289	"" []	6410091	\N	\N	EFO	9	EFO	material property	Ellis Van Creveld syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289	"" []	5414098	\N	\N	EFO	7	EFO	disease	Ellis Van Creveld syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289	"" []	6807932	\N	\N	EFO	10	EFO	experimental factor	Ellis Van Creveld syndrome
Orphanet:2890	\N	\N	"" []	Orphanet:2890	"" []	75818	\N	\N	EFO	0	EFO	Pili torti - onychodysplasia	Pili torti - onychodysplasia
Orphanet:79373	Orphanet:2890	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2890	"" []	218563	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Pili torti - onychodysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2890	"" []	573692	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Pili torti - onychodysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2890	"" []	573693	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Pili torti - onychodysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2890	"" []	1156310	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pili torti - onychodysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2890	"" []	1156311	\N	\N	EFO	3	EFO	Rare genetic skin disease	Pili torti - onychodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2890	"" []	2039212	\N	\N	EFO	4	EFO	genetic disorder	Pili torti - onychodysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2890	"" []	2039213	\N	\N	EFO	4	EFO	genetic disorder	Pili torti - onychodysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2890	"" []	2039214	\N	\N	EFO	4	EFO	skin disease	Pili torti - onychodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2890	"" []	3189480	\N	\N	EFO	5	EFO	disease	Pili torti - onychodysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2890	"" []	3189481	\N	\N	EFO	5	EFO	disease	Pili torti - onychodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2890	"" []	4396415	\N	\N	EFO	6	EFO	disposition	Pili torti - onychodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2890	"" []	5414100	\N	\N	EFO	7	EFO	material property	Pili torti - onychodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2890	"" []	6150424	\N	\N	EFO	8	EFO	experimental factor	Pili torti - onychodysplasia
Orphanet:289098	\N	\N	"" []	Orphanet:289098	"" []	75819	\N	\N	EFO	0	EFO	Disorders of vitamin D metabolism	Disorders of vitamin D metabolism
EFO:0005596	Orphanet:289098	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:289098	"" []	218564	\N	\N	EFO	1	EFO	vitamin metabolic disorder	Disorders of vitamin D metabolism
Orphanet:183634	Orphanet:289098	\N	"" []	Orphanet:289098	"" []	218565	\N	\N	EFO	1	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Disorders of vitamin D metabolism
Orphanet:93447	Orphanet:289098	\N	"" []	Orphanet:289098	"" []	218566	\N	\N	EFO	1	EFO	Primary bone dysplasia with defective bone mineralization	Disorders of vitamin D metabolism
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289098	"" []	573694	\N	\N	EFO	2	EFO	metabolic disease	Disorders of vitamin D metabolism
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:289098	"" []	573695	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Disorders of vitamin D metabolism
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:289098	"" []	573696	\N	\N	EFO	2	EFO	Primary bone dysplasia	Disorders of vitamin D metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289098	"" []	1156312	\N	\N	EFO	3	EFO	disease	Disorders of vitamin D metabolism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289098	"" []	1156313	\N	\N	EFO	3	EFO	genetic disorder	Disorders of vitamin D metabolism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:289098	"" []	1156314	\N	\N	EFO	3	EFO	endocrine system disease	Disorders of vitamin D metabolism
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:289098	"" []	1156315	\N	\N	EFO	3	EFO	Rare genetic bone disease	Disorders of vitamin D metabolism
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:289098	"" []	1156316	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Disorders of vitamin D metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289098	"" []	5059917	\N	\N	EFO	7	EFO	disposition	Disorders of vitamin D metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289098	"" []	4396418	\N	\N	EFO	6	EFO	disease	Disorders of vitamin D metabolism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289098	"" []	2039217	\N	\N	EFO	4	EFO	disease	Disorders of vitamin D metabolism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289098	"" []	2039218	\N	\N	EFO	4	EFO	genetic disorder	Disorders of vitamin D metabolism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:289098	"" []	2039219	\N	\N	EFO	4	EFO	bone disease	Disorders of vitamin D metabolism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:289098	"" []	2039220	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Disorders of vitamin D metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289098	"" []	5817681	\N	\N	EFO	8	EFO	material property	Disorders of vitamin D metabolism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:289098	"" []	3189485	\N	\N	EFO	5	EFO	skeletal system disease	Disorders of vitamin D metabolism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289098	"" []	3189486	\N	\N	EFO	5	EFO	genetic disorder	Disorders of vitamin D metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289098	"" []	6410092	\N	\N	EFO	9	EFO	experimental factor	Disorders of vitamin D metabolism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289098	"" []	4396417	\N	\N	EFO	6	EFO	disease	Disorders of vitamin D metabolism
Orphanet:2891	\N	\N	"" []	Orphanet:2891	"" []	75820	\N	\N	EFO	0	EFO	Pili torti - developmental delay - neurological abnormalities	Pili torti - developmental delay - neurological abnormalities
Orphanet:79367	Orphanet:2891	\N	"" []	Orphanet:2891	"" []	218567	\N	\N	EFO	1	EFO	Syndromic hair shaft abnormality	Pili torti - developmental delay - neurological abnormalities
Orphanet:183450	Orphanet:79367	\N	"" []	Orphanet:2891	"" []	573697	\N	\N	EFO	2	EFO	Genetic hair anomaly	Pili torti - developmental delay - neurological abnormalities
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:2891	"" []	1156317	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Pili torti - developmental delay - neurological abnormalities
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2891	"" []	2039221	\N	\N	EFO	4	EFO	Rare genetic skin disease	Pili torti - developmental delay - neurological abnormalities
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2891	"" []	3189487	\N	\N	EFO	5	EFO	genetic disorder	Pili torti - developmental delay - neurological abnormalities
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2891	"" []	3189488	\N	\N	EFO	5	EFO	skin disease	Pili torti - developmental delay - neurological abnormalities
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2891	"" []	4396419	\N	\N	EFO	6	EFO	disease	Pili torti - developmental delay - neurological abnormalities
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2891	"" []	4396420	\N	\N	EFO	6	EFO	disease	Pili torti - developmental delay - neurological abnormalities
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2891	"" []	5414101	\N	\N	EFO	7	EFO	disposition	Pili torti - developmental delay - neurological abnormalities
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2891	"" []	6150425	\N	\N	EFO	8	EFO	material property	Pili torti - developmental delay - neurological abnormalities
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2891	"" []	6633153	\N	\N	EFO	9	EFO	experimental factor	Pili torti - developmental delay - neurological abnormalities
Orphanet:289103	\N	\N	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	75821	\N	\N	EFO	0	EFO	Hypocalcemic rickets	Hypocalcemic rickets
Orphanet:289098	Orphanet:289103	\N	"" []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	218568	\N	\N	EFO	1	EFO	Disorders of vitamin D metabolism	Hypocalcemic rickets
EFO:0005596	Orphanet:289098	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	573698	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Hypocalcemic rickets
Orphanet:183634	Orphanet:289098	\N	"" []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	573699	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Hypocalcemic rickets
Orphanet:93447	Orphanet:289098	\N	"" []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	573700	\N	\N	EFO	2	EFO	Primary bone dysplasia with defective bone mineralization	Hypocalcemic rickets
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	1156318	\N	\N	EFO	3	EFO	metabolic disease	Hypocalcemic rickets
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	1156319	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Hypocalcemic rickets
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	1156320	\N	\N	EFO	3	EFO	Primary bone dysplasia	Hypocalcemic rickets
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	2039222	\N	\N	EFO	4	EFO	disease	Hypocalcemic rickets
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	2039223	\N	\N	EFO	4	EFO	genetic disorder	Hypocalcemic rickets
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	2039224	\N	\N	EFO	4	EFO	endocrine system disease	Hypocalcemic rickets
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	2039225	\N	\N	EFO	4	EFO	Rare genetic bone disease	Hypocalcemic rickets
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	2039226	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Hypocalcemic rickets
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	5877235	\N	\N	EFO	8	EFO	disposition	Hypocalcemic rickets
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	5414104	\N	\N	EFO	7	EFO	disease	Hypocalcemic rickets
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	3189491	\N	\N	EFO	5	EFO	disease	Hypocalcemic rickets
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	3189492	\N	\N	EFO	5	EFO	genetic disorder	Hypocalcemic rickets
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	3189493	\N	\N	EFO	5	EFO	bone disease	Hypocalcemic rickets
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	3189494	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hypocalcemic rickets
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	6410093	\N	\N	EFO	9	EFO	material property	Hypocalcemic rickets
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	4396424	\N	\N	EFO	6	EFO	skeletal system disease	Hypocalcemic rickets
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	4396425	\N	\N	EFO	6	EFO	genetic disorder	Hypocalcemic rickets
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	6807933	\N	\N	EFO	10	EFO	experimental factor	Hypocalcemic rickets
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289103	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	5414103	\N	\N	EFO	7	EFO	disease	Hypocalcemic rickets
Orphanet:289157	\N	\N	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	75822	\N	\N	EFO	0	EFO	Hypocalcemic vitamin D-dependent rickets	Hypocalcemic vitamin D-dependent rickets
Orphanet:289103	Orphanet:289157	\N	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	218569	\N	\N	EFO	1	EFO	Hypocalcemic rickets	Hypocalcemic vitamin D-dependent rickets
Orphanet:289098	Orphanet:289103	\N	"" []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	573701	\N	\N	EFO	2	EFO	Disorders of vitamin D metabolism	Hypocalcemic vitamin D-dependent rickets
EFO:0005596	Orphanet:289098	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	1156321	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Hypocalcemic vitamin D-dependent rickets
Orphanet:183634	Orphanet:289098	\N	"" []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	1156322	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Hypocalcemic vitamin D-dependent rickets
Orphanet:93447	Orphanet:289098	\N	"" []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	1156323	\N	\N	EFO	3	EFO	Primary bone dysplasia with defective bone mineralization	Hypocalcemic vitamin D-dependent rickets
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	2039227	\N	\N	EFO	4	EFO	metabolic disease	Hypocalcemic vitamin D-dependent rickets
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	2039228	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hypocalcemic vitamin D-dependent rickets
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	2039229	\N	\N	EFO	4	EFO	Primary bone dysplasia	Hypocalcemic vitamin D-dependent rickets
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	3189495	\N	\N	EFO	5	EFO	disease	Hypocalcemic vitamin D-dependent rickets
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	3189496	\N	\N	EFO	5	EFO	genetic disorder	Hypocalcemic vitamin D-dependent rickets
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	3189497	\N	\N	EFO	5	EFO	endocrine system disease	Hypocalcemic vitamin D-dependent rickets
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	3189498	\N	\N	EFO	5	EFO	Rare genetic bone disease	Hypocalcemic vitamin D-dependent rickets
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	3189499	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Hypocalcemic vitamin D-dependent rickets
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	6470463	\N	\N	EFO	9	EFO	disposition	Hypocalcemic vitamin D-dependent rickets
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	6150428	\N	\N	EFO	8	EFO	disease	Hypocalcemic vitamin D-dependent rickets
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	4396428	\N	\N	EFO	6	EFO	disease	Hypocalcemic vitamin D-dependent rickets
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	4396429	\N	\N	EFO	6	EFO	genetic disorder	Hypocalcemic vitamin D-dependent rickets
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	4396430	\N	\N	EFO	6	EFO	bone disease	Hypocalcemic vitamin D-dependent rickets
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	4396431	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Hypocalcemic vitamin D-dependent rickets
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	6807934	\N	\N	EFO	10	EFO	material property	Hypocalcemic vitamin D-dependent rickets
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	5414108	\N	\N	EFO	7	EFO	skeletal system disease	Hypocalcemic vitamin D-dependent rickets
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	5414109	\N	\N	EFO	7	EFO	genetic disorder	Hypocalcemic vitamin D-dependent rickets
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	7048675	\N	\N	EFO	11	EFO	experimental factor	Hypocalcemic vitamin D-dependent rickets
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289157	"Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." []	6150427	\N	\N	EFO	8	EFO	disease	Hypocalcemic vitamin D-dependent rickets
Orphanet:289176	\N	\N	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	75823	\N	\N	EFO	0	EFO	Autosomal recessive hypophosphatemic rickets	Autosomal recessive hypophosphatemic rickets
Orphanet:437	Orphanet:289176	\N	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	218570	\N	\N	EFO	1	EFO	Hypophosphatemic rickets	Autosomal recessive hypophosphatemic rickets
Orphanet:183592	Orphanet:437	\N	"" []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	573702	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Autosomal recessive hypophosphatemic rickets
Orphanet:289098	Orphanet:437	\N	"" []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	573703	\N	\N	EFO	2	EFO	Disorders of vitamin D metabolism	Autosomal recessive hypophosphatemic rickets
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	1156324	\N	\N	EFO	3	EFO	Rare genetic renal disease	Autosomal recessive hypophosphatemic rickets
EFO:0005596	Orphanet:289098	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	1156325	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Autosomal recessive hypophosphatemic rickets
Orphanet:183634	Orphanet:289098	\N	"" []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	1156326	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Autosomal recessive hypophosphatemic rickets
Orphanet:93447	Orphanet:289098	\N	"" []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	1156327	\N	\N	EFO	3	EFO	Primary bone dysplasia with defective bone mineralization	Autosomal recessive hypophosphatemic rickets
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	2039230	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive hypophosphatemic rickets
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	2039231	\N	\N	EFO	4	EFO	metabolic disease	Autosomal recessive hypophosphatemic rickets
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	2039232	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Autosomal recessive hypophosphatemic rickets
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	2039233	\N	\N	EFO	4	EFO	Primary bone dysplasia	Autosomal recessive hypophosphatemic rickets
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	6150431	\N	\N	EFO	8	EFO	disease	Autosomal recessive hypophosphatemic rickets
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	3189501	\N	\N	EFO	5	EFO	disease	Autosomal recessive hypophosphatemic rickets
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	3189502	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive hypophosphatemic rickets
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	3189503	\N	\N	EFO	5	EFO	endocrine system disease	Autosomal recessive hypophosphatemic rickets
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	3189504	\N	\N	EFO	5	EFO	Rare genetic bone disease	Autosomal recessive hypophosphatemic rickets
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	3189505	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Autosomal recessive hypophosphatemic rickets
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	6410094	\N	\N	EFO	9	EFO	disposition	Autosomal recessive hypophosphatemic rickets
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	4396434	\N	\N	EFO	6	EFO	disease	Autosomal recessive hypophosphatemic rickets
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	4396435	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive hypophosphatemic rickets
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	4396436	\N	\N	EFO	6	EFO	bone disease	Autosomal recessive hypophosphatemic rickets
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	4396437	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive hypophosphatemic rickets
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	6807935	\N	\N	EFO	10	EFO	material property	Autosomal recessive hypophosphatemic rickets
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	5414112	\N	\N	EFO	7	EFO	skeletal system disease	Autosomal recessive hypophosphatemic rickets
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	5414113	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive hypophosphatemic rickets
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	7048676	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive hypophosphatemic rickets
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289176	"Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." []	6150430	\N	\N	EFO	8	EFO	disease	Autosomal recessive hypophosphatemic rickets
Orphanet:2892	\N	\N	"" []	Orphanet:2892	"" []	75824	\N	\N	EFO	0	EFO	Pilodental dysplasia - refractive errors	Pilodental dysplasia - refractive errors
Orphanet:183580	Orphanet:2892	\N	"" []	Orphanet:2892	"" []	218571	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Pilodental dysplasia - refractive errors
Orphanet:79373	Orphanet:2892	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2892	"" []	218572	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Pilodental dysplasia - refractive errors
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2892	"" []	573704	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Pilodental dysplasia - refractive errors
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2892	"" []	573705	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Pilodental dysplasia - refractive errors
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2892	"" []	573706	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Pilodental dysplasia - refractive errors
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2892	"" []	2039235	\N	\N	EFO	4	EFO	genetic disorder	Pilodental dysplasia - refractive errors
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2892	"" []	1156329	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pilodental dysplasia - refractive errors
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2892	"" []	1156330	\N	\N	EFO	3	EFO	Rare genetic skin disease	Pilodental dysplasia - refractive errors
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2892	"" []	3000280	\N	\N	EFO	5	EFO	disease	Pilodental dysplasia - refractive errors
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2892	"" []	2039236	\N	\N	EFO	4	EFO	genetic disorder	Pilodental dysplasia - refractive errors
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2892	"" []	2039237	\N	\N	EFO	4	EFO	skin disease	Pilodental dysplasia - refractive errors
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2892	"" []	4133786	\N	\N	EFO	6	EFO	disposition	Pilodental dysplasia - refractive errors
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2892	"" []	3189507	\N	\N	EFO	5	EFO	disease	Pilodental dysplasia - refractive errors
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2892	"" []	5182440	\N	\N	EFO	7	EFO	material property	Pilodental dysplasia - refractive errors
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2892	"" []	5997781	\N	\N	EFO	8	EFO	experimental factor	Pilodental dysplasia - refractive errors
Orphanet:289266	\N	\N	"" []	Orphanet:289266	"" []	75825	\N	\N	EFO	0	EFO	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Orphanet:183763	Orphanet:289266	\N	"" []	Orphanet:289266	"" []	218573	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Orphanet:98259	Orphanet:289266	\N	"" []	Orphanet:289266	"" []	218574	\N	\N	EFO	1	EFO	Childhood-onset epilepsy syndrome	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:289266	"" []	573707	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:289266	"" []	573708	\N	\N	EFO	2	EFO	Epilepsy syndrome	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:289266	"" []	1156331	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:289266	"" []	1156332	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289266	"" []	3189509	\N	\N	EFO	5	EFO	genetic disorder	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:289266	"" []	2039239	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289266	"" []	4133787	\N	\N	EFO	6	EFO	disease	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289266	"" []	5182441	\N	\N	EFO	7	EFO	disposition	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289266	"" []	5997782	\N	\N	EFO	8	EFO	material property	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289266	"" []	6551084	\N	\N	EFO	9	EFO	experimental factor	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Orphanet:289290	\N	\N	"" []	Orphanet:289290	"" []	75826	\N	\N	EFO	0	EFO	Hypermethioninemia encephalopathy due to adenosine kinase deficiency	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Orphanet:68385	Orphanet:289290	\N	"" []	Orphanet:289290	"" []	218575	\N	\N	EFO	1	EFO	Neurometabolic disease	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Orphanet:79173	Orphanet:289290	\N	"" []	Orphanet:289290	"" []	218576	\N	\N	EFO	1	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:289290	"" []	573709	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:289290	"" []	573710	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289290	"" []	1156333	\N	\N	EFO	3	EFO	genetic disorder	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289290	"" []	1156334	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289290	"" []	3189511	\N	\N	EFO	5	EFO	disease	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289290	"" []	2039241	\N	\N	EFO	4	EFO	genetic disorder	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289290	"" []	2039242	\N	\N	EFO	4	EFO	metabolic disease	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289290	"" []	4133788	\N	\N	EFO	6	EFO	disposition	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289290	"" []	3189512	\N	\N	EFO	5	EFO	disease	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289290	"" []	5182442	\N	\N	EFO	7	EFO	material property	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289290	"" []	5997783	\N	\N	EFO	8	EFO	experimental factor	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Orphanet:289307	\N	\N	"" []	Orphanet:289307	"" []	75827	\N	\N	EFO	0	EFO	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Orphanet:79197	Orphanet:289307	\N	"" []	Orphanet:289307	"" []	218577	\N	\N	EFO	1	EFO	Disorder of branched-chain amino acid metabolism	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Orphanet:79062	Orphanet:79197	\N	"" []	Orphanet:289307	"" []	573711	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289307	"" []	1156335	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289307	"" []	2039243	\N	\N	EFO	4	EFO	genetic disorder	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289307	"" []	2039244	\N	\N	EFO	4	EFO	metabolic disease	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289307	"" []	3189513	\N	\N	EFO	5	EFO	disease	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289307	"" []	3189514	\N	\N	EFO	5	EFO	disease	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289307	"" []	4396441	\N	\N	EFO	6	EFO	disposition	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289307	"" []	5414117	\N	\N	EFO	7	EFO	material property	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289307	"" []	6150433	\N	\N	EFO	8	EFO	experimental factor	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Orphanet:289365	\N	\N	"" []	Orphanet:289365	"" []	75828	\N	\N	EFO	0	EFO	Familial vesicoureteral reflux	Familial vesicoureteral reflux
Orphanet:156622	Orphanet:289365	\N	"" []	Orphanet:289365	"" []	218578	\N	\N	EFO	1	EFO	Genetic urogenital tract malformation	Familial vesicoureteral reflux
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:289365	"" []	573712	\N	\N	EFO	2	EFO	Rare genetic urogenital disease	Familial vesicoureteral reflux
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289365	"" []	1156336	\N	\N	EFO	3	EFO	genetic disorder	Familial vesicoureteral reflux
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289365	"" []	2039245	\N	\N	EFO	4	EFO	disease	Familial vesicoureteral reflux
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289365	"" []	3189515	\N	\N	EFO	5	EFO	disposition	Familial vesicoureteral reflux
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289365	"" []	4396442	\N	\N	EFO	6	EFO	material property	Familial vesicoureteral reflux
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289365	"" []	5414118	\N	\N	EFO	7	EFO	experimental factor	Familial vesicoureteral reflux
Orphanet:289377	\N	\N	"" []	Orphanet:289377	"" []	75829	\N	\N	EFO	0	EFO	Early-onset myopathy with fatal cardiomyopathy	Early-onset myopathy with fatal cardiomyopathy
Orphanet:206656	Orphanet:289377	\N	"" []	Orphanet:289377	"" []	218579	\N	\N	EFO	1	EFO	Non-dystrophic myopathy	Early-onset myopathy with fatal cardiomyopathy
Orphanet:209053	Orphanet:289377	\N	"" []	Orphanet:289377	"" []	218580	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of titin	Early-onset myopathy with fatal cardiomyopathy
Orphanet:217610	Orphanet:289377	\N	"" []	Orphanet:289377	"" []	218581	\N	\N	EFO	1	EFO	Neuromuscular disease with dilated cardiomyopathy	Early-onset myopathy with fatal cardiomyopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:289377	"" []	573713	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Early-onset myopathy with fatal cardiomyopathy
Orphanet:207049	Orphanet:209053	\N	"" []	Orphanet:289377	"" []	573714	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Early-onset myopathy with fatal cardiomyopathy
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:289377	"" []	573715	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Early-onset myopathy with fatal cardiomyopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:289377	"" []	1156337	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Early-onset myopathy with fatal cardiomyopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:289377	"" []	1156338	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Early-onset myopathy with fatal cardiomyopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:289377	"" []	1156339	\N	\N	EFO	3	EFO	cardiomyopathy	Early-onset myopathy with fatal cardiomyopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:289377	"" []	1156340	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Early-onset myopathy with fatal cardiomyopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:289377	"" []	2039246	\N	\N	EFO	4	EFO	muscular disease	Early-onset myopathy with fatal cardiomyopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:289377	"" []	2039247	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Early-onset myopathy with fatal cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:289377	"" []	2039248	\N	\N	EFO	4	EFO	heart disease	Early-onset myopathy with fatal cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289377	"" []	2039249	\N	\N	EFO	4	EFO	genetic disorder	Early-onset myopathy with fatal cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:289377	"" []	2039250	\N	\N	EFO	4	EFO	heart disease	Early-onset myopathy with fatal cardiomyopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:289377	"" []	3189516	\N	\N	EFO	5	EFO	skeletal system disease	Early-onset myopathy with fatal cardiomyopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289377	"" []	3189517	\N	\N	EFO	5	EFO	genetic disorder	Early-onset myopathy with fatal cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:289377	"" []	3189518	\N	\N	EFO	5	EFO	cardiovascular disease	Early-onset myopathy with fatal cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289377	"" []	4396444	\N	\N	EFO	6	EFO	disease	Early-onset myopathy with fatal cardiomyopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289377	"" []	4396443	\N	\N	EFO	6	EFO	disease	Early-onset myopathy with fatal cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289377	"" []	4396445	\N	\N	EFO	6	EFO	disease	Early-onset myopathy with fatal cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289377	"" []	5182443	\N	\N	EFO	7	EFO	disposition	Early-onset myopathy with fatal cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289377	"" []	5997784	\N	\N	EFO	8	EFO	material property	Early-onset myopathy with fatal cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289377	"" []	6551085	\N	\N	EFO	9	EFO	experimental factor	Early-onset myopathy with fatal cardiomyopathy
Orphanet:289380	\N	\N	"" []	Orphanet:289380	"" []	75830	\N	\N	EFO	0	EFO	Myosclerosis	Myosclerosis
Orphanet:206659	Orphanet:289380	\N	"" []	Orphanet:289380	"" []	218582	\N	\N	EFO	1	EFO	Non-dystrophic myopathy with collagen 6 anomaly	Myosclerosis
Orphanet:206656	Orphanet:206659	\N	"" []	Orphanet:289380	"" []	573716	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Myosclerosis
Orphanet:207090	Orphanet:206659	\N	"" []	Orphanet:289380	"" []	573717	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of collagen 6	Myosclerosis
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:289380	"" []	1156341	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Myosclerosis
Orphanet:207049	Orphanet:207090	\N	"" []	Orphanet:289380	"" []	1156342	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Myosclerosis
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:289380	"" []	2039251	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Myosclerosis
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:289380	"" []	2039252	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Myosclerosis
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:289380	"" []	3189520	\N	\N	EFO	5	EFO	muscular disease	Myosclerosis
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:289380	"" []	3189521	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Myosclerosis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:289380	"" []	4396447	\N	\N	EFO	6	EFO	skeletal system disease	Myosclerosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289380	"" []	4396448	\N	\N	EFO	6	EFO	genetic disorder	Myosclerosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289380	"" []	5414120	\N	\N	EFO	7	EFO	disease	Myosclerosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289380	"" []	5414121	\N	\N	EFO	7	EFO	disease	Myosclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289380	"" []	6150435	\N	\N	EFO	8	EFO	disposition	Myosclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289380	"" []	6633154	\N	\N	EFO	9	EFO	material property	Myosclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289380	"" []	6925858	\N	\N	EFO	10	EFO	experimental factor	Myosclerosis
Orphanet:2894	\N	\N	"" []	Orphanet:2894	"" []	75831	\N	\N	EFO	0	EFO	Pilotto syndrome	Pilotto syndrome
Orphanet:139039	Orphanet:2894	\N	"" []	Orphanet:2894	"" []	218583	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Pilotto syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:2894	"" []	573718	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Pilotto syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2894	"" []	1156343	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Pilotto syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2894	"" []	2039253	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Pilotto syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2894	"" []	3189522	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pilotto syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2894	"" []	4396449	\N	\N	EFO	6	EFO	genetic disorder	Pilotto syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2894	"" []	5414122	\N	\N	EFO	7	EFO	disease	Pilotto syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2894	"" []	6150436	\N	\N	EFO	8	EFO	disposition	Pilotto syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2894	"" []	6633155	\N	\N	EFO	9	EFO	material property	Pilotto syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2894	"" []	6925859	\N	\N	EFO	10	EFO	experimental factor	Pilotto syndrome
Orphanet:289465	\N	\N	"" []	Orphanet:289465	"" []	75832	\N	\N	EFO	0	EFO	Isolated adermatoglyphia	Isolated adermatoglyphia
Orphanet:139027	Orphanet:289465	\N	"" []	Orphanet:289465	"" []	218584	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Isolated adermatoglyphia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:289465	"" []	573719	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Isolated adermatoglyphia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289465	"" []	1156344	\N	\N	EFO	3	EFO	genetic disorder	Isolated adermatoglyphia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289465	"" []	2039254	\N	\N	EFO	4	EFO	disease	Isolated adermatoglyphia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289465	"" []	3189523	\N	\N	EFO	5	EFO	disposition	Isolated adermatoglyphia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289465	"" []	4396450	\N	\N	EFO	6	EFO	material property	Isolated adermatoglyphia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289465	"" []	5414123	\N	\N	EFO	7	EFO	experimental factor	Isolated adermatoglyphia
Orphanet:289483	\N	\N	"" []	Orphanet:289483	"" []	75833	\N	\N	EFO	0	EFO	Intellectual disability - alacrima - achalasia	Intellectual disability - alacrima - achalasia
Orphanet:183763	Orphanet:289483	\N	"" []	Orphanet:289483	"" []	218585	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - alacrima - achalasia
Orphanet:98604	Orphanet:289483	\N	"" []	Orphanet:289483	"" []	218586	\N	\N	EFO	1	EFO	Congenital alacrima	Intellectual disability - alacrima - achalasia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:289483	"" []	573720	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - alacrima - achalasia
Orphanet:98603	Orphanet:98604	\N	"" []	Orphanet:289483	"" []	573721	\N	\N	EFO	2	EFO	Secretory apparatus of the lacrimal system anomaly	Intellectual disability - alacrima - achalasia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:289483	"" []	1156345	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - alacrima - achalasia
Orphanet:98602	Orphanet:98603	\N	"" []	Orphanet:289483	"" []	1156346	\N	\N	EFO	3	EFO	Rare lacrimal system disease	Intellectual disability - alacrima - achalasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289483	"" []	2039255	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - alacrima - achalasia
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:289483	"" []	2039256	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Intellectual disability - alacrima - achalasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289483	"" []	5414125	\N	\N	EFO	7	EFO	disease	Intellectual disability - alacrima - achalasia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:289483	"" []	3189525	\N	\N	EFO	5	EFO	Rare genetic eye disease	Intellectual disability - alacrima - achalasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289483	"" []	5877237	\N	\N	EFO	8	EFO	disposition	Intellectual disability - alacrima - achalasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289483	"" []	4396452	\N	\N	EFO	6	EFO	genetic disorder	Intellectual disability - alacrima - achalasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:289483	"" []	4396453	\N	\N	EFO	6	EFO	eye disease	Intellectual disability - alacrima - achalasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289483	"" []	6470465	\N	\N	EFO	9	EFO	material property	Intellectual disability - alacrima - achalasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289483	"" []	5414126	\N	\N	EFO	7	EFO	disease	Intellectual disability - alacrima - achalasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289483	"" []	6848543	\N	\N	EFO	10	EFO	experimental factor	Intellectual disability - alacrima - achalasia
Orphanet:289494	\N	\N	"" []	Orphanet:289494	"" []	75834	\N	\N	EFO	0	EFO	Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism	Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
Orphanet:68356	Orphanet:289494	\N	"" []	Orphanet:289494	"" []	218587	\N	\N	EFO	1	EFO	Leukodystrophy	Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:289494	"" []	573722	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289494	"" []	1156347	\N	\N	EFO	3	EFO	genetic disorder	Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289494	"" []	2039257	\N	\N	EFO	4	EFO	disease	Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289494	"" []	3189526	\N	\N	EFO	5	EFO	disposition	Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289494	"" []	4396454	\N	\N	EFO	6	EFO	material property	Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289494	"" []	5414127	\N	\N	EFO	7	EFO	experimental factor	Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
Orphanet:289499	\N	\N	"" []	Orphanet:289499	"" []	75835	\N	\N	EFO	0	EFO	Congenital cataract microcornea with corneal opacity	Congenital cataract microcornea with corneal opacity
Orphanet:98641	Orphanet:289499	\N	"" []	Orphanet:289499	"" []	218588	\N	\N	EFO	1	EFO	Syndromic cataract	Congenital cataract microcornea with corneal opacity
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:289499	"" []	573723	\N	\N	EFO	2	EFO	Rare cataract	Congenital cataract microcornea with corneal opacity
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:289499	"" []	1156348	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Congenital cataract microcornea with corneal opacity
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:289499	"" []	2039258	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital cataract microcornea with corneal opacity
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289499	"" []	3189527	\N	\N	EFO	5	EFO	genetic disorder	Congenital cataract microcornea with corneal opacity
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:289499	"" []	3189528	\N	\N	EFO	5	EFO	eye disease	Congenital cataract microcornea with corneal opacity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289499	"" []	4396455	\N	\N	EFO	6	EFO	disease	Congenital cataract microcornea with corneal opacity
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289499	"" []	4396456	\N	\N	EFO	6	EFO	disease	Congenital cataract microcornea with corneal opacity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289499	"" []	5414128	\N	\N	EFO	7	EFO	disposition	Congenital cataract microcornea with corneal opacity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289499	"" []	6150438	\N	\N	EFO	8	EFO	material property	Congenital cataract microcornea with corneal opacity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289499	"" []	6633156	\N	\N	EFO	9	EFO	experimental factor	Congenital cataract microcornea with corneal opacity
Orphanet:289504	\N	\N	"" []	Orphanet:289504	"" []	75836	\N	\N	EFO	0	EFO	Combined malonic and methylmalonic acidemia	Combined malonic and methylmalonic acidemia
Orphanet:79163	Orphanet:289504	\N	"" []	Orphanet:289504	"" []	218589	\N	\N	EFO	1	EFO	Classic organic aciduria	Combined malonic and methylmalonic acidemia
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:289504	"" []	573724	\N	\N	EFO	2	EFO	Organic aciduria	Combined malonic and methylmalonic acidemia
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:289504	"" []	1156349	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Combined malonic and methylmalonic acidemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289504	"" []	2039259	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Combined malonic and methylmalonic acidemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289504	"" []	3189529	\N	\N	EFO	5	EFO	genetic disorder	Combined malonic and methylmalonic acidemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289504	"" []	3189530	\N	\N	EFO	5	EFO	metabolic disease	Combined malonic and methylmalonic acidemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289504	"" []	4396457	\N	\N	EFO	6	EFO	disease	Combined malonic and methylmalonic acidemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289504	"" []	4396458	\N	\N	EFO	6	EFO	disease	Combined malonic and methylmalonic acidemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289504	"" []	5414129	\N	\N	EFO	7	EFO	disposition	Combined malonic and methylmalonic acidemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289504	"" []	6150439	\N	\N	EFO	8	EFO	material property	Combined malonic and methylmalonic acidemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289504	"" []	6633157	\N	\N	EFO	9	EFO	experimental factor	Combined malonic and methylmalonic acidemia
Orphanet:289513	\N	\N	"" []	Orphanet:289513	"" []	75837	\N	\N	EFO	0	EFO	12q15q21.1 microdeletion syndrome	12q15q21.1 microdeletion syndrome
Orphanet:261821	Orphanet:289513	\N	"" []	Orphanet:289513	"" []	218590	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 12	12q15q21.1 microdeletion syndrome
Orphanet:282124	Orphanet:261821	\N	"" []	Orphanet:289513	"" []	573725	\N	\N	EFO	2	EFO	Partial deletion of chromosome 12	12q15q21.1 microdeletion syndrome
Orphanet:98142	Orphanet:282124	\N	"" []	Orphanet:289513	"" []	1156350	\N	\N	EFO	3	EFO	Partial autosomal monosomy	12q15q21.1 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:289513	"" []	2039260	\N	\N	EFO	4	EFO	Autosomal monosomy	12q15q21.1 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:289513	"" []	3189531	\N	\N	EFO	5	EFO	Autosomal anomaly	12q15q21.1 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:289513	"" []	4396459	\N	\N	EFO	6	EFO	Chromosomal anomaly	12q15q21.1 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289513	"" []	5414130	\N	\N	EFO	7	EFO	genetic disorder	12q15q21.1 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289513	"" []	6150440	\N	\N	EFO	8	EFO	disease	12q15q21.1 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289513	"" []	6633158	\N	\N	EFO	9	EFO	disposition	12q15q21.1 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289513	"" []	6925860	\N	\N	EFO	10	EFO	material property	12q15q21.1 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289513	"" []	7099169	\N	\N	EFO	11	EFO	experimental factor	12q15q21.1 microdeletion syndrome
Orphanet:289522	\N	\N	"" []	Orphanet:289522	"" []	75838	\N	\N	EFO	0	EFO	Microtriplication 11q24.1	Microtriplication 11q24.1
Orphanet:102283	Orphanet:289522	\N	"" []	Orphanet:289522	"" []	218591	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microtriplication 11q24.1
Orphanet:262923	Orphanet:289522	\N	"" []	Orphanet:289522	"" []	218592	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 11	Microtriplication 11q24.1
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:289522	"" []	573726	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microtriplication 11q24.1
Orphanet:262653	Orphanet:262923	\N	"" []	Orphanet:289522	"" []	573727	\N	\N	EFO	2	EFO	Partial duplication of chromosome 11	Microtriplication 11q24.1
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:289522	"" []	1156351	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microtriplication 11q24.1
Orphanet:98132	Orphanet:262653	\N	"" []	Orphanet:289522	"" []	1156352	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Microtriplication 11q24.1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289522	"" []	2039261	\N	\N	EFO	4	EFO	genetic disorder	Microtriplication 11q24.1
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:289522	"" []	2039262	\N	\N	EFO	4	EFO	Autosomal trisomy	Microtriplication 11q24.1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289522	"" []	6150442	\N	\N	EFO	8	EFO	disease	Microtriplication 11q24.1
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:289522	"" []	3189533	\N	\N	EFO	5	EFO	Autosomal anomaly	Microtriplication 11q24.1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289522	"" []	6410095	\N	\N	EFO	9	EFO	disposition	Microtriplication 11q24.1
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:289522	"" []	4396461	\N	\N	EFO	6	EFO	Chromosomal anomaly	Microtriplication 11q24.1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289522	"" []	6807936	\N	\N	EFO	10	EFO	material property	Microtriplication 11q24.1
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289522	"" []	5414132	\N	\N	EFO	7	EFO	genetic disorder	Microtriplication 11q24.1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289522	"" []	7048677	\N	\N	EFO	11	EFO	experimental factor	Microtriplication 11q24.1
Orphanet:289527	\N	\N	"" []	Orphanet:289527	"" []	75839	\N	\N	EFO	0	EFO	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Orphanet:217587	Orphanet:289527	\N	"" []	Orphanet:289527	"" []	218593	\N	\N	EFO	1	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Orphanet:309136	Orphanet:289527	\N	"" []	Orphanet:289527	"" []	218594	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:289527	"" []	573728	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:289527	"" []	573729	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:289527	"" []	1156353	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:289527	"" []	1156354	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289527	"" []	2039263	\N	\N	EFO	4	EFO	genetic disorder	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:289527	"" []	2039264	\N	\N	EFO	4	EFO	heart disease	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:289527	"" []	2039265	\N	\N	EFO	4	EFO	Mitochondrial disease	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289527	"" []	6150444	\N	\N	EFO	8	EFO	disease	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:289527	"" []	3189535	\N	\N	EFO	5	EFO	cardiovascular disease	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:289527	"" []	3189536	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:289527	"" []	3189537	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289527	"" []	6410096	\N	\N	EFO	9	EFO	disposition	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289527	"" []	4396463	\N	\N	EFO	6	EFO	disease	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:289527	"" []	4396464	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:289527	"" []	4396465	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289527	"" []	6807937	\N	\N	EFO	10	EFO	material property	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289527	"" []	5414135	\N	\N	EFO	7	EFO	genetic disorder	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289527	"" []	5414136	\N	\N	EFO	7	EFO	genetic disorder	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289527	"" []	5414137	\N	\N	EFO	7	EFO	metabolic disease	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289527	"" []	7048678	\N	\N	EFO	11	EFO	experimental factor	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289527	"" []	6150445	\N	\N	EFO	8	EFO	disease	Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Orphanet:289539	\N	\N	"" []	Orphanet:289539	"" []	75840	\N	\N	EFO	0	EFO	BAP1-related tumor predisposition syndrome	BAP1-related tumor predisposition syndrome
Orphanet:140162	Orphanet:289539	\N	"" []	Orphanet:289539	"" []	218595	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	BAP1-related tumor predisposition syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289539	"" []	573730	\N	\N	EFO	2	EFO	genetic disorder	BAP1-related tumor predisposition syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289539	"" []	1156355	\N	\N	EFO	3	EFO	disease	BAP1-related tumor predisposition syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289539	"" []	2039266	\N	\N	EFO	4	EFO	disposition	BAP1-related tumor predisposition syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289539	"" []	3189538	\N	\N	EFO	5	EFO	material property	BAP1-related tumor predisposition syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289539	"" []	4396466	\N	\N	EFO	6	EFO	experimental factor	BAP1-related tumor predisposition syndrome
Orphanet:289548	\N	\N	"" []	Orphanet:289548	"" []	75841	\N	\N	EFO	0	EFO	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
Orphanet:101960	Orphanet:289548	\N	"" []	Orphanet:289548	"" []	218596	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:289548	"" []	573731	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:289548	"" []	1156356	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289548	"" []	2039267	\N	\N	EFO	4	EFO	genetic disorder	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:289548	"" []	2039268	\N	\N	EFO	4	EFO	endocrine system disease	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289548	"" []	3189539	\N	\N	EFO	5	EFO	disease	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289548	"" []	3189540	\N	\N	EFO	5	EFO	disease	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289548	"" []	4396467	\N	\N	EFO	6	EFO	disposition	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289548	"" []	5414138	\N	\N	EFO	7	EFO	material property	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289548	"" []	6150446	\N	\N	EFO	8	EFO	experimental factor	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
Orphanet:289553	\N	\N	"" []	Orphanet:289553	"" []	75842	\N	\N	EFO	0	EFO	Dysmorphism - conductive hearing loss - heart defect	Dysmorphism - conductive hearing loss - heart defect
Orphanet:330197	Orphanet:289553	\N	"" []	Orphanet:289553	"" []	218597	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Dysmorphism - conductive hearing loss - heart defect
Orphanet:90642	Orphanet:289553	\N	"" []	Orphanet:289553	"" []	218598	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Dysmorphism - conductive hearing loss - heart defect
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:289553	"" []	573732	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Dysmorphism - conductive hearing loss - heart defect
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:289553	"" []	573733	\N	\N	EFO	2	EFO	Rare genetic deafness	Dysmorphism - conductive hearing loss - heart defect
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:289553	"" []	1156357	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dysmorphism - conductive hearing loss - heart defect
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289553	"" []	1156358	\N	\N	EFO	3	EFO	genetic disorder	Dysmorphism - conductive hearing loss - heart defect
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:289553	"" []	1156359	\N	\N	EFO	3	EFO	auditory system disease	Dysmorphism - conductive hearing loss - heart defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289553	"" []	2039269	\N	\N	EFO	4	EFO	genetic disorder	Dysmorphism - conductive hearing loss - heart defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289553	"" []	3189541	\N	\N	EFO	5	EFO	disease	Dysmorphism - conductive hearing loss - heart defect
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:289553	"" []	2039271	\N	\N	EFO	4	EFO	sensory system disease	Dysmorphism - conductive hearing loss - heart defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289553	"" []	5414140	\N	\N	EFO	7	EFO	disposition	Dysmorphism - conductive hearing loss - heart defect
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:289553	"" []	3189543	\N	\N	EFO	5	EFO	nervous system disease	Dysmorphism - conductive hearing loss - heart defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289553	"" []	5877238	\N	\N	EFO	8	EFO	material property	Dysmorphism - conductive hearing loss - heart defect
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289553	"" []	4396469	\N	\N	EFO	6	EFO	disease	Dysmorphism - conductive hearing loss - heart defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289553	"" []	6470466	\N	\N	EFO	9	EFO	experimental factor	Dysmorphism - conductive hearing loss - heart defect
Orphanet:289560	\N	\N	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	75843	\N	\N	EFO	0	EFO	Neurodegeneration with brain iron accumulation due to C19orf12 mutation	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:385	Orphanet:289560	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	218599	\N	\N	EFO	1	EFO	Neurodegeneration with brain iron accumulation	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:98677	Orphanet:289560	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	218600	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	573734	\N	\N	EFO	2	EFO	Genetic dementia	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	573735	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	573736	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	573737	\N	\N	EFO	2	EFO	Neurometabolic disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	573738	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	1156360	\N	\N	EFO	3	EFO	brain disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	1156361	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	1156362	\N	\N	EFO	3	EFO	neurodegenerative disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	1156363	\N	\N	EFO	3	EFO	brain disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	1156364	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	1156365	\N	\N	EFO	3	EFO	neurodegenerative disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	1156366	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	1156367	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	1156368	\N	\N	EFO	3	EFO	Genetic optic atrophy	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	2039272	\N	\N	EFO	4	EFO	nervous system disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	3189547	\N	\N	EFO	5	EFO	genetic disorder	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	2039274	\N	\N	EFO	4	EFO	nervous system disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	2039275	\N	\N	EFO	4	EFO	movement disorder	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	2039276	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	2039277	\N	\N	EFO	4	EFO	Optic neuropathy	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	4396471	\N	\N	EFO	6	EFO	disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	5414142	\N	\N	EFO	7	EFO	disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	3189546	\N	\N	EFO	5	EFO	nervous system disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	3189548	\N	\N	EFO	5	EFO	Rare genetic eye disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	5877239	\N	\N	EFO	8	EFO	disposition	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	4396472	\N	\N	EFO	6	EFO	genetic disorder	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	4396473	\N	\N	EFO	6	EFO	eye disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	6470467	\N	\N	EFO	9	EFO	material property	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	5414143	\N	\N	EFO	7	EFO	disease	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289560	"Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." []	6848544	\N	\N	EFO	10	EFO	experimental factor	Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Orphanet:289573	\N	\N	"" []	Orphanet:289573	"" []	75844	\N	\N	EFO	0	EFO	Fatal multiple mitochondrial dysfunction syndrome	Fatal multiple mitochondrial dysfunction syndrome
Orphanet:309136	Orphanet:289573	\N	"" []	Orphanet:289573	"" []	218601	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Fatal multiple mitochondrial dysfunction syndrome
Orphanet:401854	Orphanet:289573	\N	"" []	Orphanet:289573	"" []	218602	\N	\N	EFO	1	EFO	Lipoic acid biosynthesis defect	Fatal multiple mitochondrial dysfunction syndrome
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:289573	"" []	573739	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Fatal multiple mitochondrial dysfunction syndrome
Orphanet:68380	Orphanet:401854	\N	"" []	Orphanet:289573	"" []	573740	\N	\N	EFO	2	EFO	Mitochondrial disease	Fatal multiple mitochondrial dysfunction syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:289573	"" []	1156369	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Fatal multiple mitochondrial dysfunction syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:289573	"" []	3189549	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Fatal multiple mitochondrial dysfunction syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:289573	"" []	3189550	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Fatal multiple mitochondrial dysfunction syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:289573	"" []	2039278	\N	\N	EFO	4	EFO	Mitochondrial disease	Fatal multiple mitochondrial dysfunction syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:289573	"" []	4066916	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Fatal multiple mitochondrial dysfunction syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:289573	"" []	4066917	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Fatal multiple mitochondrial dysfunction syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289573	"" []	5059918	\N	\N	EFO	7	EFO	genetic disorder	Fatal multiple mitochondrial dysfunction syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289573	"" []	5059919	\N	\N	EFO	7	EFO	genetic disorder	Fatal multiple mitochondrial dysfunction syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289573	"" []	5059920	\N	\N	EFO	7	EFO	metabolic disease	Fatal multiple mitochondrial dysfunction syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289573	"" []	5877240	\N	\N	EFO	8	EFO	disease	Fatal multiple mitochondrial dysfunction syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289573	"" []	5877241	\N	\N	EFO	8	EFO	disease	Fatal multiple mitochondrial dysfunction syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289573	"" []	6470468	\N	\N	EFO	9	EFO	disposition	Fatal multiple mitochondrial dysfunction syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289573	"" []	6848545	\N	\N	EFO	10	EFO	material property	Fatal multiple mitochondrial dysfunction syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289573	"" []	7068462	\N	\N	EFO	11	EFO	experimental factor	Fatal multiple mitochondrial dysfunction syndrome
Orphanet:289586	\N	\N	"" []	Orphanet:289586	"" []	75845	\N	\N	EFO	0	EFO	Exfoliative ichthyosis	Exfoliative ichthyosis
Orphanet:281097	Orphanet:289586	\N	"" []	Orphanet:289586	"" []	218603	\N	\N	EFO	1	EFO	Autosomal recessive congenital ichthyosis	Exfoliative ichthyosis
Orphanet:281082	Orphanet:281097	\N	"" []	Orphanet:289586	"" []	573741	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Exfoliative ichthyosis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:289586	"" []	1156372	\N	\N	EFO	3	EFO	Inherited ichthyosis	Exfoliative ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:289586	"" []	2039281	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Exfoliative ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:289586	"" []	3189554	\N	\N	EFO	5	EFO	Rare genetic skin disease	Exfoliative ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289586	"" []	4396476	\N	\N	EFO	6	EFO	genetic disorder	Exfoliative ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:289586	"" []	4396477	\N	\N	EFO	6	EFO	skin disease	Exfoliative ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289586	"" []	5414145	\N	\N	EFO	7	EFO	disease	Exfoliative ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289586	"" []	5414146	\N	\N	EFO	7	EFO	disease	Exfoliative ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289586	"" []	6150449	\N	\N	EFO	8	EFO	disposition	Exfoliative ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289586	"" []	6633160	\N	\N	EFO	9	EFO	material property	Exfoliative ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289586	"" []	6925861	\N	\N	EFO	10	EFO	experimental factor	Exfoliative ichthyosis
Orphanet:2896	\N	\N	"Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." []	Orphanet:2896	"Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." []	75846	\N	\N	EFO	0	EFO	Pitt-Hopkins syndrome	Pitt-Hopkins syndrome
Orphanet:183763	Orphanet:2896	\N	"" []	Orphanet:2896	"Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." []	218604	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Pitt-Hopkins syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2896	"Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." []	573742	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Pitt-Hopkins syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2896	"Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." []	1156373	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pitt-Hopkins syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2896	"Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." []	2039282	\N	\N	EFO	4	EFO	genetic disorder	Pitt-Hopkins syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2896	"Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." []	3189555	\N	\N	EFO	5	EFO	disease	Pitt-Hopkins syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2896	"Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." []	4396478	\N	\N	EFO	6	EFO	disposition	Pitt-Hopkins syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2896	"Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." []	5414147	\N	\N	EFO	7	EFO	material property	Pitt-Hopkins syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2896	"Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." []	6150450	\N	\N	EFO	8	EFO	experimental factor	Pitt-Hopkins syndrome
Orphanet:289601	\N	\N	"" []	Orphanet:289601	"" []	75847	\N	\N	EFO	0	EFO	Hereditary arterial and articular multiple calcification syndrome	Hereditary arterial and articular multiple calcification syndrome
Orphanet:233655	Orphanet:289601	\N	"" []	Orphanet:289601	"" []	218605	\N	\N	EFO	1	EFO	Rare genetic vascular disease	Hereditary arterial and articular multiple calcification syndrome
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289601	"" []	573743	\N	\N	EFO	2	EFO	genetic disorder	Hereditary arterial and articular multiple calcification syndrome
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:289601	"" []	573744	\N	\N	EFO	2	EFO	vascular disease	Hereditary arterial and articular multiple calcification syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289601	"" []	1156374	\N	\N	EFO	3	EFO	disease	Hereditary arterial and articular multiple calcification syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:289601	"" []	1156375	\N	\N	EFO	3	EFO	cardiovascular disease	Hereditary arterial and articular multiple calcification syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289601	"" []	3189557	\N	\N	EFO	5	EFO	disposition	Hereditary arterial and articular multiple calcification syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289601	"" []	2039284	\N	\N	EFO	4	EFO	disease	Hereditary arterial and articular multiple calcification syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289601	"" []	4133791	\N	\N	EFO	6	EFO	material property	Hereditary arterial and articular multiple calcification syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289601	"" []	5182446	\N	\N	EFO	7	EFO	experimental factor	Hereditary arterial and articular multiple calcification syndrome
Orphanet:2897	\N	\N	"" []	Orphanet:2897	"" []	75848	\N	\N	EFO	0	EFO	Pityriasis rubra pilaris	Pityriasis rubra pilaris
Orphanet:183438	Orphanet:2897	\N	"" []	Orphanet:2897	"" []	218606	\N	\N	EFO	1	EFO	Genetic erythrokeratoderma	Pityriasis rubra pilaris
Orphanet:183426	Orphanet:183438	\N	"" []	Orphanet:2897	"" []	573745	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Pityriasis rubra pilaris
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2897	"" []	1156376	\N	\N	EFO	3	EFO	Rare genetic skin disease	Pityriasis rubra pilaris
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2897	"" []	2039285	\N	\N	EFO	4	EFO	genetic disorder	Pityriasis rubra pilaris
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2897	"" []	2039286	\N	\N	EFO	4	EFO	skin disease	Pityriasis rubra pilaris
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2897	"" []	3189558	\N	\N	EFO	5	EFO	disease	Pityriasis rubra pilaris
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2897	"" []	3189559	\N	\N	EFO	5	EFO	disease	Pityriasis rubra pilaris
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2897	"" []	4396480	\N	\N	EFO	6	EFO	disposition	Pityriasis rubra pilaris
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2897	"" []	5414148	\N	\N	EFO	7	EFO	material property	Pityriasis rubra pilaris
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2897	"" []	6150451	\N	\N	EFO	8	EFO	experimental factor	Pityriasis rubra pilaris
Orphanet:2898	\N	\N	"" []	Orphanet:2898	"" []	75849	\N	\N	EFO	0	EFO	X-linked intellectual disability - plagiocephaly	X-linked intellectual disability - plagiocephaly
Orphanet:102283	Orphanet:2898	\N	"" []	Orphanet:2898	"" []	218607	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability - plagiocephaly
Orphanet:139393	Orphanet:2898	\N	"" []	Orphanet:2898	"" []	218608	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	X-linked intellectual disability - plagiocephaly
Orphanet:98464	Orphanet:2898	\N	"" []	Orphanet:2898	"" []	218609	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - plagiocephaly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2898	"" []	573746	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability - plagiocephaly
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:2898	"" []	573747	\N	\N	EFO	2	EFO	Craniosynostosis	X-linked intellectual disability - plagiocephaly
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2898	"" []	573748	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - plagiocephaly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2898	"" []	1156377	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability - plagiocephaly
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:2898	"" []	1156378	\N	\N	EFO	3	EFO	Genetic cranial malformation	X-linked intellectual disability - plagiocephaly
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:2898	"" []	1156379	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	X-linked intellectual disability - plagiocephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2898	"" []	1156380	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - plagiocephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2898	"" []	4396483	\N	\N	EFO	6	EFO	genetic disorder	X-linked intellectual disability - plagiocephaly
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:2898	"" []	2039288	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability - plagiocephaly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2898	"" []	2039289	\N	\N	EFO	4	EFO	Rare genetic bone disease	X-linked intellectual disability - plagiocephaly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2898	"" []	2039290	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	X-linked intellectual disability - plagiocephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2898	"" []	2039291	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - plagiocephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2898	"" []	5059921	\N	\N	EFO	7	EFO	disease	X-linked intellectual disability - plagiocephaly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2898	"" []	3189562	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - plagiocephaly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2898	"" []	3189563	\N	\N	EFO	5	EFO	bone disease	X-linked intellectual disability - plagiocephaly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2898	"" []	3189564	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability - plagiocephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2898	"" []	3189565	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - plagiocephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2898	"" []	5877242	\N	\N	EFO	8	EFO	disposition	X-linked intellectual disability - plagiocephaly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2898	"" []	4396482	\N	\N	EFO	6	EFO	skeletal system disease	X-linked intellectual disability - plagiocephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2898	"" []	6470469	\N	\N	EFO	9	EFO	material property	X-linked intellectual disability - plagiocephaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2898	"" []	5414150	\N	\N	EFO	7	EFO	disease	X-linked intellectual disability - plagiocephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2898	"" []	6848546	\N	\N	EFO	10	EFO	experimental factor	X-linked intellectual disability - plagiocephaly
Orphanet:289825	\N	\N	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	Orphanet:289825	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	75850	\N	\N	EFO	0	EFO	Late-onset primary lymphedema	Late-onset primary lymphedema
Orphanet:77240	Orphanet:289825	\N	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	Orphanet:289825	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	218610	\N	\N	EFO	1	EFO	Primary lymphedema	Late-onset primary lymphedema
Orphanet:79383	Orphanet:77240	\N	"" []	Orphanet:289825	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	573749	\N	\N	EFO	2	EFO	Lymphedema	Late-onset primary lymphedema
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:289825	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	1156381	\N	\N	EFO	3	EFO	Rare genetic skin disease	Late-onset primary lymphedema
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289825	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	2039292	\N	\N	EFO	4	EFO	genetic disorder	Late-onset primary lymphedema
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:289825	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	2039293	\N	\N	EFO	4	EFO	skin disease	Late-onset primary lymphedema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289825	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	3189566	\N	\N	EFO	5	EFO	disease	Late-onset primary lymphedema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289825	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	3189567	\N	\N	EFO	5	EFO	disease	Late-onset primary lymphedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289825	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	4396484	\N	\N	EFO	6	EFO	disposition	Late-onset primary lymphedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289825	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	5414151	\N	\N	EFO	7	EFO	material property	Late-onset primary lymphedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289825	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	6150453	\N	\N	EFO	8	EFO	experimental factor	Late-onset primary lymphedema
Orphanet:289829	\N	\N	"" []	Orphanet:289829	"" []	75851	\N	\N	EFO	0	EFO	Disorder of tryptophan metabolism	Disorder of tryptophan metabolism
Orphanet:79062	Orphanet:289829	\N	"" []	Orphanet:289829	"" []	218611	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of tryptophan metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289829	"" []	573750	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of tryptophan metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289829	"" []	1156382	\N	\N	EFO	3	EFO	genetic disorder	Disorder of tryptophan metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289829	"" []	1156383	\N	\N	EFO	3	EFO	metabolic disease	Disorder of tryptophan metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289829	"" []	2039294	\N	\N	EFO	4	EFO	disease	Disorder of tryptophan metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289829	"" []	2039295	\N	\N	EFO	4	EFO	disease	Disorder of tryptophan metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289829	"" []	3189568	\N	\N	EFO	5	EFO	disposition	Disorder of tryptophan metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289829	"" []	4396485	\N	\N	EFO	6	EFO	material property	Disorder of tryptophan metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289829	"" []	5414152	\N	\N	EFO	7	EFO	experimental factor	Disorder of tryptophan metabolism
Orphanet:289832	\N	\N	"" []	Orphanet:289832	"" []	75852	\N	\N	EFO	0	EFO	Disorder of lysine and hydroxylysine metabolism	Disorder of lysine and hydroxylysine metabolism
Orphanet:79062	Orphanet:289832	\N	"" []	Orphanet:289832	"" []	218612	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of lysine and hydroxylysine metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289832	"" []	573751	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of lysine and hydroxylysine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289832	"" []	1156384	\N	\N	EFO	3	EFO	genetic disorder	Disorder of lysine and hydroxylysine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289832	"" []	1156385	\N	\N	EFO	3	EFO	metabolic disease	Disorder of lysine and hydroxylysine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289832	"" []	2039296	\N	\N	EFO	4	EFO	disease	Disorder of lysine and hydroxylysine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289832	"" []	2039297	\N	\N	EFO	4	EFO	disease	Disorder of lysine and hydroxylysine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289832	"" []	3189569	\N	\N	EFO	5	EFO	disposition	Disorder of lysine and hydroxylysine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289832	"" []	4396486	\N	\N	EFO	6	EFO	material property	Disorder of lysine and hydroxylysine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289832	"" []	5414153	\N	\N	EFO	7	EFO	experimental factor	Disorder of lysine and hydroxylysine metabolism
Orphanet:289841	\N	\N	"" []	Orphanet:289841	"" []	75853	\N	\N	EFO	0	EFO	Disorder of glutamine metabolism	Disorder of glutamine metabolism
Orphanet:79062	Orphanet:289841	\N	"" []	Orphanet:289841	"" []	218613	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of glutamine metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289841	"" []	573752	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of glutamine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289841	"" []	1156386	\N	\N	EFO	3	EFO	genetic disorder	Disorder of glutamine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289841	"" []	1156387	\N	\N	EFO	3	EFO	metabolic disease	Disorder of glutamine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289841	"" []	2039298	\N	\N	EFO	4	EFO	disease	Disorder of glutamine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289841	"" []	2039299	\N	\N	EFO	4	EFO	disease	Disorder of glutamine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289841	"" []	3189570	\N	\N	EFO	5	EFO	disposition	Disorder of glutamine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289841	"" []	4396487	\N	\N	EFO	6	EFO	material property	Disorder of glutamine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289841	"" []	5414154	\N	\N	EFO	7	EFO	experimental factor	Disorder of glutamine metabolism
Orphanet:289846	\N	\N	"" []	Orphanet:289846	"" []	75854	\N	\N	EFO	0	EFO	Glutathione synthetase deficiency with 5-oxoprolinuria	Glutathione synthetase deficiency with 5-oxoprolinuria
Orphanet:32	Orphanet:289846	\N	"" []	Orphanet:289846	"" []	218614	\N	\N	EFO	1	EFO	Glutathione synthetase deficiency	Glutathione synthetase deficiency with 5-oxoprolinuria
Orphanet:79196	Orphanet:32	\N	"" []	Orphanet:289846	"" []	573753	\N	\N	EFO	2	EFO	Disorder of the gamma-glutamyl cycle	Glutathione synthetase deficiency with 5-oxoprolinuria
Orphanet:98370	Orphanet:32	\N	"" []	Orphanet:289846	"" []	573754	\N	\N	EFO	2	EFO	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	Glutathione synthetase deficiency with 5-oxoprolinuria
Orphanet:79062	Orphanet:79196	\N	"" []	Orphanet:289846	"" []	1156388	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Glutathione synthetase deficiency with 5-oxoprolinuria
Orphanet:98369	Orphanet:98370	\N	"" []	Orphanet:289846	"" []	1156389	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Glutathione synthetase deficiency with 5-oxoprolinuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289846	"" []	2039300	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glutathione synthetase deficiency with 5-oxoprolinuria
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:289846	"" []	2039301	\N	\N	EFO	4	EFO	Rare constitutional hemolytic anemia	Glutathione synthetase deficiency with 5-oxoprolinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289846	"" []	3189571	\N	\N	EFO	5	EFO	genetic disorder	Glutathione synthetase deficiency with 5-oxoprolinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289846	"" []	3189572	\N	\N	EFO	5	EFO	metabolic disease	Glutathione synthetase deficiency with 5-oxoprolinuria
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:289846	"" []	3189573	\N	\N	EFO	5	EFO	Rare constitutional anemia	Glutathione synthetase deficiency with 5-oxoprolinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289846	"" []	6150455	\N	\N	EFO	8	EFO	disease	Glutathione synthetase deficiency with 5-oxoprolinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289846	"" []	4396489	\N	\N	EFO	6	EFO	disease	Glutathione synthetase deficiency with 5-oxoprolinuria
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:289846	"" []	4396490	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Glutathione synthetase deficiency with 5-oxoprolinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289846	"" []	6470470	\N	\N	EFO	9	EFO	disposition	Glutathione synthetase deficiency with 5-oxoprolinuria
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289846	"" []	5414156	\N	\N	EFO	7	EFO	genetic disorder	Glutathione synthetase deficiency with 5-oxoprolinuria
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:289846	"" []	5414157	\N	\N	EFO	7	EFO	hematological system disease	Glutathione synthetase deficiency with 5-oxoprolinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289846	"" []	6848547	\N	\N	EFO	10	EFO	material property	Glutathione synthetase deficiency with 5-oxoprolinuria
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289846	"" []	6150456	\N	\N	EFO	8	EFO	disease	Glutathione synthetase deficiency with 5-oxoprolinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289846	"" []	7068463	\N	\N	EFO	11	EFO	experimental factor	Glutathione synthetase deficiency with 5-oxoprolinuria
Orphanet:289849	\N	\N	"" []	Orphanet:289849	"" []	75855	\N	\N	EFO	0	EFO	Glutathione synthetase deficiency without 5-oxoprolinuria	Glutathione synthetase deficiency without 5-oxoprolinuria
Orphanet:32	Orphanet:289849	\N	"" []	Orphanet:289849	"" []	218615	\N	\N	EFO	1	EFO	Glutathione synthetase deficiency	Glutathione synthetase deficiency without 5-oxoprolinuria
Orphanet:79196	Orphanet:32	\N	"" []	Orphanet:289849	"" []	573755	\N	\N	EFO	2	EFO	Disorder of the gamma-glutamyl cycle	Glutathione synthetase deficiency without 5-oxoprolinuria
Orphanet:98370	Orphanet:32	\N	"" []	Orphanet:289849	"" []	573756	\N	\N	EFO	2	EFO	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	Glutathione synthetase deficiency without 5-oxoprolinuria
Orphanet:79062	Orphanet:79196	\N	"" []	Orphanet:289849	"" []	1156390	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Glutathione synthetase deficiency without 5-oxoprolinuria
Orphanet:98369	Orphanet:98370	\N	"" []	Orphanet:289849	"" []	1156391	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Glutathione synthetase deficiency without 5-oxoprolinuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289849	"" []	2039302	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glutathione synthetase deficiency without 5-oxoprolinuria
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:289849	"" []	2039303	\N	\N	EFO	4	EFO	Rare constitutional hemolytic anemia	Glutathione synthetase deficiency without 5-oxoprolinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289849	"" []	3189574	\N	\N	EFO	5	EFO	genetic disorder	Glutathione synthetase deficiency without 5-oxoprolinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289849	"" []	3189575	\N	\N	EFO	5	EFO	metabolic disease	Glutathione synthetase deficiency without 5-oxoprolinuria
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:289849	"" []	3189576	\N	\N	EFO	5	EFO	Rare constitutional anemia	Glutathione synthetase deficiency without 5-oxoprolinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289849	"" []	6150458	\N	\N	EFO	8	EFO	disease	Glutathione synthetase deficiency without 5-oxoprolinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289849	"" []	4396492	\N	\N	EFO	6	EFO	disease	Glutathione synthetase deficiency without 5-oxoprolinuria
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:289849	"" []	4396493	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Glutathione synthetase deficiency without 5-oxoprolinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289849	"" []	6470471	\N	\N	EFO	9	EFO	disposition	Glutathione synthetase deficiency without 5-oxoprolinuria
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289849	"" []	5414159	\N	\N	EFO	7	EFO	genetic disorder	Glutathione synthetase deficiency without 5-oxoprolinuria
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:289849	"" []	5414160	\N	\N	EFO	7	EFO	hematological system disease	Glutathione synthetase deficiency without 5-oxoprolinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289849	"" []	6848548	\N	\N	EFO	10	EFO	material property	Glutathione synthetase deficiency without 5-oxoprolinuria
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289849	"" []	6150459	\N	\N	EFO	8	EFO	disease	Glutathione synthetase deficiency without 5-oxoprolinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289849	"" []	7068464	\N	\N	EFO	11	EFO	experimental factor	Glutathione synthetase deficiency without 5-oxoprolinuria
Orphanet:289857	\N	\N	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	75856	\N	\N	EFO	0	EFO	Neonatal glycine encephalopathy	Neonatal glycine encephalopathy
Orphanet:407	Orphanet:289857	\N	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	218616	\N	\N	EFO	1	EFO	Glycine encephalopathy	Neonatal glycine encephalopathy
Orphanet:68385	Orphanet:407	\N	"" []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	573757	\N	\N	EFO	2	EFO	Neurometabolic disease	Neonatal glycine encephalopathy
Orphanet:79194	Orphanet:407	\N	"" []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	573758	\N	\N	EFO	2	EFO	Disorder of serine or glycine metabolism	Neonatal glycine encephalopathy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	1156392	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neonatal glycine encephalopathy
Orphanet:79062	Orphanet:79194	\N	"" []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	1156393	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Neonatal glycine encephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	2039304	\N	\N	EFO	4	EFO	genetic disorder	Neonatal glycine encephalopathy
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	2039305	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Neonatal glycine encephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	4396495	\N	\N	EFO	6	EFO	disease	Neonatal glycine encephalopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	3189578	\N	\N	EFO	5	EFO	genetic disorder	Neonatal glycine encephalopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	3189579	\N	\N	EFO	5	EFO	metabolic disease	Neonatal glycine encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	5182448	\N	\N	EFO	7	EFO	disposition	Neonatal glycine encephalopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	4396496	\N	\N	EFO	6	EFO	disease	Neonatal glycine encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	5997789	\N	\N	EFO	8	EFO	material property	Neonatal glycine encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289857	"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." []	6551089	\N	\N	EFO	9	EFO	experimental factor	Neonatal glycine encephalopathy
Orphanet:289860	\N	\N	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	75857	\N	\N	EFO	0	EFO	Infantile glycine encephalopathy	Infantile glycine encephalopathy
Orphanet:407	Orphanet:289860	\N	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	218617	\N	\N	EFO	1	EFO	Glycine encephalopathy	Infantile glycine encephalopathy
Orphanet:68385	Orphanet:407	\N	"" []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	573759	\N	\N	EFO	2	EFO	Neurometabolic disease	Infantile glycine encephalopathy
Orphanet:79194	Orphanet:407	\N	"" []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	573760	\N	\N	EFO	2	EFO	Disorder of serine or glycine metabolism	Infantile glycine encephalopathy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	1156394	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile glycine encephalopathy
Orphanet:79062	Orphanet:79194	\N	"" []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	1156395	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Infantile glycine encephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	2039306	\N	\N	EFO	4	EFO	genetic disorder	Infantile glycine encephalopathy
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	2039307	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Infantile glycine encephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	4396498	\N	\N	EFO	6	EFO	disease	Infantile glycine encephalopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	3189581	\N	\N	EFO	5	EFO	genetic disorder	Infantile glycine encephalopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	3189582	\N	\N	EFO	5	EFO	metabolic disease	Infantile glycine encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	5182449	\N	\N	EFO	7	EFO	disposition	Infantile glycine encephalopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	4396499	\N	\N	EFO	6	EFO	disease	Infantile glycine encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	5997790	\N	\N	EFO	8	EFO	material property	Infantile glycine encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289860	"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." []	6551090	\N	\N	EFO	9	EFO	experimental factor	Infantile glycine encephalopathy
Orphanet:289863	\N	\N	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	75858	\N	\N	EFO	0	EFO	Atypical glycine encephalopathy	Atypical glycine encephalopathy
Orphanet:407	Orphanet:289863	\N	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	218618	\N	\N	EFO	1	EFO	Glycine encephalopathy	Atypical glycine encephalopathy
Orphanet:68385	Orphanet:407	\N	"" []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	573761	\N	\N	EFO	2	EFO	Neurometabolic disease	Atypical glycine encephalopathy
Orphanet:79194	Orphanet:407	\N	"" []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	573762	\N	\N	EFO	2	EFO	Disorder of serine or glycine metabolism	Atypical glycine encephalopathy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	1156396	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Atypical glycine encephalopathy
Orphanet:79062	Orphanet:79194	\N	"" []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	1156397	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Atypical glycine encephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	2039308	\N	\N	EFO	4	EFO	genetic disorder	Atypical glycine encephalopathy
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	2039309	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Atypical glycine encephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	4396501	\N	\N	EFO	6	EFO	disease	Atypical glycine encephalopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	3189584	\N	\N	EFO	5	EFO	genetic disorder	Atypical glycine encephalopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	3189585	\N	\N	EFO	5	EFO	metabolic disease	Atypical glycine encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	5182450	\N	\N	EFO	7	EFO	disposition	Atypical glycine encephalopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	4396502	\N	\N	EFO	6	EFO	disease	Atypical glycine encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	5997791	\N	\N	EFO	8	EFO	material property	Atypical glycine encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289863	"Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." []	6551091	\N	\N	EFO	9	EFO	experimental factor	Atypical glycine encephalopathy
Orphanet:289866	\N	\N	"" []	Orphanet:289866	"" []	75859	\N	\N	EFO	0	EFO	Disorder of proline metabolism	Disorder of proline metabolism
Orphanet:79185	Orphanet:289866	\N	"" []	Orphanet:289866	"" []	218619	\N	\N	EFO	1	EFO	Disorder of ornithine or proline metabolism	Disorder of proline metabolism
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:289866	"" []	573763	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of proline metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289866	"" []	1156398	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of proline metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289866	"" []	2039310	\N	\N	EFO	4	EFO	genetic disorder	Disorder of proline metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289866	"" []	2039311	\N	\N	EFO	4	EFO	metabolic disease	Disorder of proline metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289866	"" []	3189586	\N	\N	EFO	5	EFO	disease	Disorder of proline metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289866	"" []	3189587	\N	\N	EFO	5	EFO	disease	Disorder of proline metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289866	"" []	4396503	\N	\N	EFO	6	EFO	disposition	Disorder of proline metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289866	"" []	5414164	\N	\N	EFO	7	EFO	material property	Disorder of proline metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289866	"" []	6150463	\N	\N	EFO	8	EFO	experimental factor	Disorder of proline metabolism
Orphanet:289869	\N	\N	"" []	Orphanet:289869	"" []	75860	\N	\N	EFO	0	EFO	Disorder of ornithine metabolism	Disorder of ornithine metabolism
Orphanet:79185	Orphanet:289869	\N	"" []	Orphanet:289869	"" []	218620	\N	\N	EFO	1	EFO	Disorder of ornithine or proline metabolism	Disorder of ornithine metabolism
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:289869	"" []	573764	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of ornithine metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289869	"" []	1156399	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of ornithine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289869	"" []	2039312	\N	\N	EFO	4	EFO	genetic disorder	Disorder of ornithine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289869	"" []	2039313	\N	\N	EFO	4	EFO	metabolic disease	Disorder of ornithine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289869	"" []	3189588	\N	\N	EFO	5	EFO	disease	Disorder of ornithine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289869	"" []	3189589	\N	\N	EFO	5	EFO	disease	Disorder of ornithine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289869	"" []	4396504	\N	\N	EFO	6	EFO	disposition	Disorder of ornithine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289869	"" []	5414165	\N	\N	EFO	7	EFO	material property	Disorder of ornithine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289869	"" []	6150464	\N	\N	EFO	8	EFO	experimental factor	Disorder of ornithine metabolism
Orphanet:289891	\N	\N	"" []	Orphanet:289891	"" []	75861	\N	\N	EFO	0	EFO	Hypermethioninemia due to glycine N-methyltransferase deficiency	Hypermethioninemia due to glycine N-methyltransferase deficiency
Orphanet:79173	Orphanet:289891	\N	"" []	Orphanet:289891	"" []	218621	\N	\N	EFO	1	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Hypermethioninemia due to glycine N-methyltransferase deficiency
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:289891	"" []	573765	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Hypermethioninemia due to glycine N-methyltransferase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289891	"" []	1156400	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hypermethioninemia due to glycine N-methyltransferase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289891	"" []	2039314	\N	\N	EFO	4	EFO	genetic disorder	Hypermethioninemia due to glycine N-methyltransferase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289891	"" []	2039315	\N	\N	EFO	4	EFO	metabolic disease	Hypermethioninemia due to glycine N-methyltransferase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289891	"" []	3189590	\N	\N	EFO	5	EFO	disease	Hypermethioninemia due to glycine N-methyltransferase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289891	"" []	3189591	\N	\N	EFO	5	EFO	disease	Hypermethioninemia due to glycine N-methyltransferase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289891	"" []	4396505	\N	\N	EFO	6	EFO	disposition	Hypermethioninemia due to glycine N-methyltransferase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289891	"" []	5414166	\N	\N	EFO	7	EFO	material property	Hypermethioninemia due to glycine N-methyltransferase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289891	"" []	6150465	\N	\N	EFO	8	EFO	experimental factor	Hypermethioninemia due to glycine N-methyltransferase deficiency
Orphanet:289899	\N	\N	"" []	Orphanet:289899	"" []	75862	\N	\N	EFO	0	EFO	Organic aciduria	Organic aciduria
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:289899	"" []	218622	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Organic aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289899	"" []	573766	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Organic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289899	"" []	1156401	\N	\N	EFO	3	EFO	genetic disorder	Organic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289899	"" []	1156402	\N	\N	EFO	3	EFO	metabolic disease	Organic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289899	"" []	2039316	\N	\N	EFO	4	EFO	disease	Organic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289899	"" []	2039317	\N	\N	EFO	4	EFO	disease	Organic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289899	"" []	3189592	\N	\N	EFO	5	EFO	disposition	Organic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289899	"" []	4396506	\N	\N	EFO	6	EFO	material property	Organic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289899	"" []	5414167	\N	\N	EFO	7	EFO	experimental factor	Organic aciduria
Orphanet:2899	\N	\N	"" []	Orphanet:2899	"" []	75863	\N	\N	EFO	0	EFO	Brachyolmia-amelogenesis imperfecta syndrome	Brachyolmia-amelogenesis imperfecta syndrome
Orphanet:1293	Orphanet:2899	\N	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	Orphanet:2899	"" []	218623	\N	\N	EFO	1	EFO	Brachyolmia	Brachyolmia-amelogenesis imperfecta syndrome
Orphanet:183580	Orphanet:2899	\N	"" []	Orphanet:2899	"" []	218624	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Brachyolmia-amelogenesis imperfecta syndrome
Orphanet:93434	Orphanet:1293	\N	"" []	Orphanet:2899	"" []	573767	\N	\N	EFO	2	EFO	Spondylodysplastic dysplasia	Brachyolmia-amelogenesis imperfecta syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2899	"" []	573768	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Brachyolmia-amelogenesis imperfecta syndrome
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:2899	"" []	1156403	\N	\N	EFO	3	EFO	Primary bone dysplasia	Brachyolmia-amelogenesis imperfecta syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2899	"" []	4396509	\N	\N	EFO	6	EFO	genetic disorder	Brachyolmia-amelogenesis imperfecta syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:2899	"" []	2039318	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachyolmia-amelogenesis imperfecta syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:2899	"" []	2039319	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachyolmia-amelogenesis imperfecta syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2899	"" []	5028434	\N	\N	EFO	7	EFO	disease	Brachyolmia-amelogenesis imperfecta syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2899	"" []	3189593	\N	\N	EFO	5	EFO	genetic disorder	Brachyolmia-amelogenesis imperfecta syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2899	"" []	3189594	\N	\N	EFO	5	EFO	bone disease	Brachyolmia-amelogenesis imperfecta syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2899	"" []	3189595	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachyolmia-amelogenesis imperfecta syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2899	"" []	5817682	\N	\N	EFO	8	EFO	disposition	Brachyolmia-amelogenesis imperfecta syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2899	"" []	4396508	\N	\N	EFO	6	EFO	skeletal system disease	Brachyolmia-amelogenesis imperfecta syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2899	"" []	6410097	\N	\N	EFO	9	EFO	material property	Brachyolmia-amelogenesis imperfecta syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2899	"" []	5414168	\N	\N	EFO	7	EFO	disease	Brachyolmia-amelogenesis imperfecta syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2899	"" []	6807938	\N	\N	EFO	10	EFO	experimental factor	Brachyolmia-amelogenesis imperfecta syndrome
Orphanet:289902	\N	\N	"" []	Orphanet:289902	"" []	75864	\N	\N	EFO	0	EFO	3-methylglutaconic aciduria	3-methylglutaconic aciduria
Orphanet:79163	Orphanet:289902	\N	"" []	Orphanet:289902	"" []	218625	\N	\N	EFO	1	EFO	Classic organic aciduria	3-methylglutaconic aciduria
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:289902	"" []	573769	\N	\N	EFO	2	EFO	Organic aciduria	3-methylglutaconic aciduria
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:289902	"" []	1156405	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	3-methylglutaconic aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289902	"" []	2039321	\N	\N	EFO	4	EFO	Inborn errors of metabolism	3-methylglutaconic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289902	"" []	3189597	\N	\N	EFO	5	EFO	genetic disorder	3-methylglutaconic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289902	"" []	3189598	\N	\N	EFO	5	EFO	metabolic disease	3-methylglutaconic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289902	"" []	4396511	\N	\N	EFO	6	EFO	disease	3-methylglutaconic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289902	"" []	4396512	\N	\N	EFO	6	EFO	disease	3-methylglutaconic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289902	"" []	5414170	\N	\N	EFO	7	EFO	disposition	3-methylglutaconic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289902	"" []	6150466	\N	\N	EFO	8	EFO	material property	3-methylglutaconic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289902	"" []	6633163	\N	\N	EFO	9	EFO	experimental factor	3-methylglutaconic aciduria
Orphanet:289916	\N	\N	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	75865	\N	\N	EFO	0	EFO	Vitamin B12-unresponsive methylmalonic acidemia type mut0	Vitamin B12-unresponsive methylmalonic acidemia type mut0
Orphanet:27	Orphanet:289916	\N	" (see these terms)." []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	218626	\N	\N	EFO	1	EFO	Vitamin B12-unresponsive methylmalonic acidemia	Vitamin B12-unresponsive methylmalonic acidemia type mut0
Orphanet:293355	Orphanet:27	\N	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	573770	\N	\N	EFO	2	EFO	Methylmalonic acidemia without homocystinuria	Vitamin B12-unresponsive methylmalonic acidemia type mut0
Orphanet:93593	Orphanet:27	\N	"" []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	573771	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Vitamin B12-unresponsive methylmalonic acidemia type mut0
Orphanet:79163	Orphanet:293355	\N	"" []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	1156406	\N	\N	EFO	3	EFO	Classic organic aciduria	Vitamin B12-unresponsive methylmalonic acidemia type mut0
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	1156407	\N	\N	EFO	3	EFO	Rare genetic renal disease	Vitamin B12-unresponsive methylmalonic acidemia type mut0
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	2039322	\N	\N	EFO	4	EFO	Organic aciduria	Vitamin B12-unresponsive methylmalonic acidemia type mut0
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	2039323	\N	\N	EFO	4	EFO	genetic disorder	Vitamin B12-unresponsive methylmalonic acidemia type mut0
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	3189599	\N	\N	EFO	5	EFO	Disorder of amino acid and other organic acid metabolism	Vitamin B12-unresponsive methylmalonic acidemia type mut0
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	6150467	\N	\N	EFO	8	EFO	disease	Vitamin B12-unresponsive methylmalonic acidemia type mut0
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	4396513	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Vitamin B12-unresponsive methylmalonic acidemia type mut0
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	6410098	\N	\N	EFO	9	EFO	disposition	Vitamin B12-unresponsive methylmalonic acidemia type mut0
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	5414171	\N	\N	EFO	7	EFO	genetic disorder	Vitamin B12-unresponsive methylmalonic acidemia type mut0
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	5414172	\N	\N	EFO	7	EFO	metabolic disease	Vitamin B12-unresponsive methylmalonic acidemia type mut0
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	6807939	\N	\N	EFO	10	EFO	material property	Vitamin B12-unresponsive methylmalonic acidemia type mut0
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	6150468	\N	\N	EFO	8	EFO	disease	Vitamin B12-unresponsive methylmalonic acidemia type mut0
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:289916	"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	7048679	\N	\N	EFO	11	EFO	experimental factor	Vitamin B12-unresponsive methylmalonic acidemia type mut0
Orphanet:29	\N	\N	"" []	Orphanet:29	"" []	75866	\N	\N	EFO	0	EFO	Mevalonic aciduria	Mevalonic aciduria
Orphanet:309025	Orphanet:29	\N	"" []	Orphanet:29	"" []	218627	\N	\N	EFO	1	EFO	Mevalonate kinase deficiency	Mevalonic aciduria
Orphanet:98712	Orphanet:29	\N	"" []	Orphanet:29	"" []	218628	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Mevalonic aciduria
Orphanet:79195	Orphanet:309025	\N	"" []	Orphanet:29	"" []	573772	\N	\N	EFO	2	EFO	Sterol biosynthesis disorder	Mevalonic aciduria
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:29	"" []	573773	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Mevalonic aciduria
Orphanet:139009	Orphanet:79195	\N	"" []	Orphanet:29	"" []	1156408	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Mevalonic aciduria
Orphanet:79226	Orphanet:79195	\N	"" []	Orphanet:29	"" []	1156409	\N	\N	EFO	3	EFO	Sterol metabolism disorder	Mevalonic aciduria
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:29	"" []	1156410	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mevalonic aciduria
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:29	"" []	2039324	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mevalonic aciduria
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:29	"" []	2039325	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Mevalonic aciduria
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:29	"" []	2039326	\N	\N	EFO	4	EFO	genetic disorder	Mevalonic aciduria
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:29	"" []	2039327	\N	\N	EFO	4	EFO	eye disease	Mevalonic aciduria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:29	"" []	3189601	\N	\N	EFO	5	EFO	genetic disorder	Mevalonic aciduria
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:29	"" []	3189602	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Mevalonic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:29	"" []	5414174	\N	\N	EFO	7	EFO	disease	Mevalonic aciduria
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:29	"" []	3189604	\N	\N	EFO	5	EFO	disease	Mevalonic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:29	"" []	4396516	\N	\N	EFO	6	EFO	genetic disorder	Mevalonic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:29	"" []	4396517	\N	\N	EFO	6	EFO	metabolic disease	Mevalonic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:29	"" []	5877244	\N	\N	EFO	8	EFO	disposition	Mevalonic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:29	"" []	5414175	\N	\N	EFO	7	EFO	disease	Mevalonic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:29	"" []	6470473	\N	\N	EFO	9	EFO	material property	Mevalonic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:29	"" []	6848549	\N	\N	EFO	10	EFO	experimental factor	Mevalonic aciduria
Orphanet:2900	\N	\N	"" []	Orphanet:2900	"" []	75867	\N	\N	EFO	0	EFO	Leri pleonosteosis	Leri pleonosteosis
Orphanet:93459	Orphanet:2900	\N	"" []	Orphanet:2900	"" []	218629	\N	\N	EFO	1	EFO	Syndrome with synostosis or other joint formation defect	Leri pleonosteosis
Orphanet:404571	Orphanet:93459	\N	"" []	Orphanet:2900	"" []	573774	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Leri pleonosteosis
Orphanet:404577	Orphanet:93459	\N	"" []	Orphanet:2900	"" []	573775	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Leri pleonosteosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2900	"" []	1156411	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Leri pleonosteosis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2900	"" []	1156412	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Leri pleonosteosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2900	"" []	2039328	\N	\N	EFO	4	EFO	Rare genetic bone disease	Leri pleonosteosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2900	"" []	2039329	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Leri pleonosteosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2900	"" []	2039330	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Leri pleonosteosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2900	"" []	3189605	\N	\N	EFO	5	EFO	genetic disorder	Leri pleonosteosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2900	"" []	3189606	\N	\N	EFO	5	EFO	bone disease	Leri pleonosteosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2900	"" []	3189607	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Leri pleonosteosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2900	"" []	4396521	\N	\N	EFO	6	EFO	genetic disorder	Leri pleonosteosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2900	"" []	5182452	\N	\N	EFO	7	EFO	disease	Leri pleonosteosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2900	"" []	4396520	\N	\N	EFO	6	EFO	skeletal system disease	Leri pleonosteosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2900	"" []	5997793	\N	\N	EFO	8	EFO	disposition	Leri pleonosteosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2900	"" []	5414178	\N	\N	EFO	7	EFO	disease	Leri pleonosteosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2900	"" []	6551093	\N	\N	EFO	9	EFO	material property	Leri pleonosteosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2900	"" []	6889224	\N	\N	EFO	10	EFO	experimental factor	Leri pleonosteosis
Orphanet:2903	\N	\N	"" []	Orphanet:2903	"" []	75868	\N	\N	EFO	0	EFO	Familial spontaneous pneumothorax	Familial spontaneous pneumothorax
Orphanet:156610	Orphanet:2903	\N	"" []	Orphanet:2903	"" []	218630	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Familial spontaneous pneumothorax
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2903	"" []	573776	\N	\N	EFO	2	EFO	genetic disorder	Familial spontaneous pneumothorax
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:2903	"" []	573777	\N	\N	EFO	2	EFO	respiratory system disease	Familial spontaneous pneumothorax
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2903	"" []	1156413	\N	\N	EFO	3	EFO	disease	Familial spontaneous pneumothorax
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2903	"" []	1156414	\N	\N	EFO	3	EFO	disease	Familial spontaneous pneumothorax
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2903	"" []	2039331	\N	\N	EFO	4	EFO	disposition	Familial spontaneous pneumothorax
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2903	"" []	3189609	\N	\N	EFO	5	EFO	material property	Familial spontaneous pneumothorax
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2903	"" []	4396522	\N	\N	EFO	6	EFO	experimental factor	Familial spontaneous pneumothorax
Orphanet:2907	\N	\N	"" []	Orphanet:2907	"" []	75869	\N	\N	EFO	0	EFO	Hereditary acrokeratotic poikiloderma, Weary type	Hereditary acrokeratotic poikiloderma, Weary type
Orphanet:306539	Orphanet:2907	\N	"" []	Orphanet:2907	"" []	218631	\N	\N	EFO	1	EFO	Hereditary acrokeratotic poikiloderma of Kindler-Weary	Hereditary acrokeratotic poikiloderma, Weary type
Orphanet:183490	Orphanet:306539	\N	"" []	Orphanet:2907	"" []	573778	\N	\N	EFO	2	EFO	Genetic photodermatosis	Hereditary acrokeratotic poikiloderma, Weary type
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:2907	"" []	1156415	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hereditary acrokeratotic poikiloderma, Weary type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2907	"" []	2039332	\N	\N	EFO	4	EFO	genetic disorder	Hereditary acrokeratotic poikiloderma, Weary type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2907	"" []	2039333	\N	\N	EFO	4	EFO	skin disease	Hereditary acrokeratotic poikiloderma, Weary type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2907	"" []	3189610	\N	\N	EFO	5	EFO	disease	Hereditary acrokeratotic poikiloderma, Weary type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2907	"" []	3189611	\N	\N	EFO	5	EFO	disease	Hereditary acrokeratotic poikiloderma, Weary type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2907	"" []	4396523	\N	\N	EFO	6	EFO	disposition	Hereditary acrokeratotic poikiloderma, Weary type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2907	"" []	5414179	\N	\N	EFO	7	EFO	material property	Hereditary acrokeratotic poikiloderma, Weary type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2907	"" []	6150472	\N	\N	EFO	8	EFO	experimental factor	Hereditary acrokeratotic poikiloderma, Weary type
Orphanet:29072	\N	\N	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	75870	\N	\N	EFO	0	EFO	Hereditary pheochromocytoma-paraganglioma	Hereditary pheochromocytoma-paraganglioma
EFO:0003863	Orphanet:29072	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	218632	\N	\N	EFO	1	EFO	urogenital neoplasm	Hereditary pheochromocytoma-paraganglioma
Orphanet:156629	Orphanet:29072	\N	"" []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	218633	\N	\N	EFO	1	EFO	Genetic hypertension	Hereditary pheochromocytoma-paraganglioma
Orphanet:183637	Orphanet:29072	\N	"" []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	218634	\N	\N	EFO	1	EFO	Rare genetic adrenal disease	Hereditary pheochromocytoma-paraganglioma
Orphanet:271847	Orphanet:29072	\N	"" []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	218635	\N	\N	EFO	1	EFO	Genetic endocrine tumor	Hereditary pheochromocytoma-paraganglioma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	573779	\N	\N	EFO	2	EFO	neoplasm	Hereditary pheochromocytoma-paraganglioma
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	573780	\N	\N	EFO	2	EFO	Rare genetic renal disease	Hereditary pheochromocytoma-paraganglioma
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	573781	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Hereditary pheochromocytoma-paraganglioma
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	573782	\N	\N	EFO	2	EFO	endocrine neoplasm	Hereditary pheochromocytoma-paraganglioma
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	573783	\N	\N	EFO	2	EFO	Rare genetic tumor	Hereditary pheochromocytoma-paraganglioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	2039337	\N	\N	EFO	4	EFO	disease	Hereditary pheochromocytoma-paraganglioma
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	1156417	\N	\N	EFO	3	EFO	genetic disorder	Hereditary pheochromocytoma-paraganglioma
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	1156418	\N	\N	EFO	3	EFO	genetic disorder	Hereditary pheochromocytoma-paraganglioma
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	1156419	\N	\N	EFO	3	EFO	endocrine system disease	Hereditary pheochromocytoma-paraganglioma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	1156420	\N	\N	EFO	3	EFO	neoplasm	Hereditary pheochromocytoma-paraganglioma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	1156421	\N	\N	EFO	3	EFO	endocrine system disease	Hereditary pheochromocytoma-paraganglioma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	1156422	\N	\N	EFO	3	EFO	genetic disorder	Hereditary pheochromocytoma-paraganglioma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	1156423	\N	\N	EFO	3	EFO	neoplasm	Hereditary pheochromocytoma-paraganglioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	3000281	\N	\N	EFO	5	EFO	disposition	Hereditary pheochromocytoma-paraganglioma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	2039335	\N	\N	EFO	4	EFO	disease	Hereditary pheochromocytoma-paraganglioma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	2039336	\N	\N	EFO	4	EFO	disease	Hereditary pheochromocytoma-paraganglioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	4133793	\N	\N	EFO	6	EFO	material property	Hereditary pheochromocytoma-paraganglioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:29072	"Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." []	5182453	\N	\N	EFO	7	EFO	experimental factor	Hereditary pheochromocytoma-paraganglioma
Orphanet:2908	\N	\N	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	75871	\N	\N	EFO	0	EFO	Kindler syndrome	Kindler syndrome
Orphanet:306539	Orphanet:2908	\N	"" []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	218636	\N	\N	EFO	1	EFO	Hereditary acrokeratotic poikiloderma of Kindler-Weary	Kindler syndrome
Orphanet:79361	Orphanet:2908	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	218637	\N	\N	EFO	1	EFO	Inherited epidermolysis bullosa	Kindler syndrome
Orphanet:183490	Orphanet:306539	\N	"" []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	573784	\N	\N	EFO	2	EFO	Genetic photodermatosis	Kindler syndrome
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	573785	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Kindler syndrome
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	1156424	\N	\N	EFO	3	EFO	Rare genetic skin disease	Kindler syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	1156425	\N	\N	EFO	3	EFO	Rare genetic skin disease	Kindler syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	2039338	\N	\N	EFO	4	EFO	genetic disorder	Kindler syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	2039339	\N	\N	EFO	4	EFO	skin disease	Kindler syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	3189613	\N	\N	EFO	5	EFO	disease	Kindler syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	3189614	\N	\N	EFO	5	EFO	disease	Kindler syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	4396525	\N	\N	EFO	6	EFO	disposition	Kindler syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	5414180	\N	\N	EFO	7	EFO	material property	Kindler syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2908	"Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." []	6150473	\N	\N	EFO	8	EFO	experimental factor	Kindler syndrome
Orphanet:290839	\N	\N	"" []	Orphanet:290839	"" []	75872	\N	\N	EFO	0	EFO	Autoinflammatory syndrome with immune deficiency	Autoinflammatory syndrome with immune deficiency
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:290839	"" []	218638	\N	\N	EFO	1	EFO	Primary immunodeficiency due to a defect in innate immunity	Autoinflammatory syndrome with immune deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:290839	"" []	573786	\N	\N	EFO	2	EFO	Primary immunodeficiency	Autoinflammatory syndrome with immune deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:290839	"" []	1156426	\N	\N	EFO	3	EFO	Rare genetic immune disease	Autoinflammatory syndrome with immune deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:290839	"" []	2039340	\N	\N	EFO	4	EFO	genetic disorder	Autoinflammatory syndrome with immune deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:290839	"" []	2039341	\N	\N	EFO	4	EFO	immune system disease	Autoinflammatory syndrome with immune deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:290839	"" []	3189615	\N	\N	EFO	5	EFO	disease	Autoinflammatory syndrome with immune deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:290839	"" []	3189616	\N	\N	EFO	5	EFO	disease	Autoinflammatory syndrome with immune deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:290839	"" []	4396526	\N	\N	EFO	6	EFO	disposition	Autoinflammatory syndrome with immune deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:290839	"" []	5414181	\N	\N	EFO	7	EFO	material property	Autoinflammatory syndrome with immune deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:290839	"" []	6150474	\N	\N	EFO	8	EFO	experimental factor	Autoinflammatory syndrome with immune deficiency
Orphanet:2909	\N	\N	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	75873	\N	\N	EFO	0	EFO	Rothmund-Thomson syndrome	Rothmund-Thomson syndrome
Orphanet:183490	Orphanet:2909	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	218639	\N	\N	EFO	1	EFO	Genetic photodermatosis	Rothmund-Thomson syndrome
Orphanet:222628	Orphanet:2909	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	218640	\N	\N	EFO	1	EFO	Hereditary poikiloderma	Rothmund-Thomson syndrome
Orphanet:363245	Orphanet:2909	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	218641	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Rothmund-Thomson syndrome
Orphanet:98649	Orphanet:2909	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	218642	\N	\N	EFO	1	EFO	Dentocutaneous disease with cataract	Rothmund-Thomson syndrome
Orphanet:98709	Orphanet:2909	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	218643	\N	\N	EFO	1	EFO	Ectodermal malformation syndrome associated with ocular features	Rothmund-Thomson syndrome
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	573787	\N	\N	EFO	2	EFO	Rare genetic skin disease	Rothmund-Thomson syndrome
Orphanet:183426	Orphanet:222628	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	573788	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Rothmund-Thomson syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	573789	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Rothmund-Thomson syndrome
Orphanet:98643	Orphanet:98649	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	573790	\N	\N	EFO	2	EFO	Systemic disease with cataract	Rothmund-Thomson syndrome
Orphanet:101435	Orphanet:98709	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	573791	\N	\N	EFO	2	EFO	Rare genetic eye disease	Rothmund-Thomson syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	2039344	\N	\N	EFO	4	EFO	genetic disorder	Rothmund-Thomson syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	2039345	\N	\N	EFO	4	EFO	skin disease	Rothmund-Thomson syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	1156429	\N	\N	EFO	3	EFO	Rare genetic skin disease	Rothmund-Thomson syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	1156430	\N	\N	EFO	3	EFO	genetic disorder	Rothmund-Thomson syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	1156431	\N	\N	EFO	3	EFO	Syndromic cataract	Rothmund-Thomson syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	5414183	\N	\N	EFO	7	EFO	genetic disorder	Rothmund-Thomson syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	5414184	\N	\N	EFO	7	EFO	eye disease	Rothmund-Thomson syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	5801861	\N	\N	EFO	8	EFO	disease	Rothmund-Thomson syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	3000283	\N	\N	EFO	5	EFO	disease	Rothmund-Thomson syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	2039346	\N	\N	EFO	4	EFO	Rare cataract	Rothmund-Thomson syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	5801862	\N	\N	EFO	8	EFO	disease	Rothmund-Thomson syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	6378918	\N	\N	EFO	9	EFO	disposition	Rothmund-Thomson syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	3189618	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Rothmund-Thomson syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	6778721	\N	\N	EFO	10	EFO	material property	Rothmund-Thomson syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	4396528	\N	\N	EFO	6	EFO	Rare genetic eye disease	Rothmund-Thomson syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2909	"Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." []	7029915	\N	\N	EFO	11	EFO	experimental factor	Rothmund-Thomson syndrome
Orphanet:2911	\N	\N	"" []	Orphanet:2911	"" []	75874	\N	\N	EFO	0	EFO	Poland syndrome	Poland syndrome
Orphanet:69028	Orphanet:2911	\N	"" []	Orphanet:2911	"" []	218644	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Poland syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:2911	"" []	573792	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Poland syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:2911	"" []	573793	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Poland syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2911	"" []	1156434	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Poland syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2911	"" []	1156435	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Poland syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2911	"" []	2039348	\N	\N	EFO	4	EFO	Rare genetic bone disease	Poland syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2911	"" []	2039349	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Poland syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2911	"" []	2039350	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Poland syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2911	"" []	3189619	\N	\N	EFO	5	EFO	genetic disorder	Poland syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2911	"" []	3189620	\N	\N	EFO	5	EFO	bone disease	Poland syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2911	"" []	3189621	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Poland syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2911	"" []	4396531	\N	\N	EFO	6	EFO	genetic disorder	Poland syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2911	"" []	5182455	\N	\N	EFO	7	EFO	disease	Poland syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2911	"" []	4396530	\N	\N	EFO	6	EFO	skeletal system disease	Poland syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2911	"" []	5997795	\N	\N	EFO	8	EFO	disposition	Poland syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2911	"" []	5414186	\N	\N	EFO	7	EFO	disease	Poland syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2911	"" []	6551094	\N	\N	EFO	9	EFO	material property	Poland syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2911	"" []	6889225	\N	\N	EFO	10	EFO	experimental factor	Poland syndrome
Orphanet:2913	\N	\N	"" []	Orphanet:2913	"" []	75875	\N	\N	EFO	0	EFO	Polydactyly	Polydactyly
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:2913	"" []	218645	\N	\N	EFO	1	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polydactyly
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:2913	"" []	573794	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Polydactyly
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:2913	"" []	573795	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polydactyly
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:2913	"" []	1156436	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Polydactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2913	"" []	1156437	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Polydactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2913	"" []	2039351	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2913	"" []	2039352	\N	\N	EFO	4	EFO	Rare genetic bone disease	Polydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2913	"" []	2039353	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Polydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2913	"" []	4396534	\N	\N	EFO	6	EFO	genetic disorder	Polydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2913	"" []	3189624	\N	\N	EFO	5	EFO	genetic disorder	Polydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2913	"" []	3189625	\N	\N	EFO	5	EFO	bone disease	Polydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2913	"" []	3189626	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2913	"" []	5182456	\N	\N	EFO	7	EFO	disease	Polydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2913	"" []	4396533	\N	\N	EFO	6	EFO	skeletal system disease	Polydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2913	"" []	5997796	\N	\N	EFO	8	EFO	disposition	Polydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2913	"" []	5414188	\N	\N	EFO	7	EFO	disease	Polydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2913	"" []	6551095	\N	\N	EFO	9	EFO	material property	Polydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2913	"" []	6889226	\N	\N	EFO	10	EFO	experimental factor	Polydactyly
Orphanet:2916	\N	\N	"" []	Orphanet:2916	"" []	75876	\N	\N	EFO	0	EFO	Postaxial polydactyly - dental and vertebral anomalies	Postaxial polydactyly - dental and vertebral anomalies
Orphanet:183580	Orphanet:2916	\N	"" []	Orphanet:2916	"" []	218646	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Postaxial polydactyly - dental and vertebral anomalies
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2916	"" []	573796	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly - dental and vertebral anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2916	"" []	1156438	\N	\N	EFO	3	EFO	genetic disorder	Postaxial polydactyly - dental and vertebral anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2916	"" []	2039354	\N	\N	EFO	4	EFO	disease	Postaxial polydactyly - dental and vertebral anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2916	"" []	3189627	\N	\N	EFO	5	EFO	disposition	Postaxial polydactyly - dental and vertebral anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2916	"" []	4396535	\N	\N	EFO	6	EFO	material property	Postaxial polydactyly - dental and vertebral anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2916	"" []	5414189	\N	\N	EFO	7	EFO	experimental factor	Postaxial polydactyly - dental and vertebral anomalies
Orphanet:2917	\N	\N	"" []	Orphanet:2917	"" []	75877	\N	\N	EFO	0	EFO	Polydactyly-myopia syndrome	Polydactyly-myopia syndrome
Orphanet:294959	Orphanet:2917	\N	"" []	Orphanet:2917	"" []	218647	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Polydactyly-myopia syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2917	"" []	573797	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polydactyly-myopia syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2917	"" []	573798	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Polydactyly-myopia syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2917	"" []	1156439	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Polydactyly-myopia syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2917	"" []	1156440	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Polydactyly-myopia syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2917	"" []	2039355	\N	\N	EFO	4	EFO	Rare genetic bone disease	Polydactyly-myopia syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2917	"" []	2039356	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Polydactyly-myopia syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2917	"" []	2039357	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly-myopia syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2917	"" []	3189628	\N	\N	EFO	5	EFO	genetic disorder	Polydactyly-myopia syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2917	"" []	3189629	\N	\N	EFO	5	EFO	bone disease	Polydactyly-myopia syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2917	"" []	3189630	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly-myopia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2917	"" []	4396538	\N	\N	EFO	6	EFO	genetic disorder	Polydactyly-myopia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2917	"" []	5182457	\N	\N	EFO	7	EFO	disease	Polydactyly-myopia syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2917	"" []	4396537	\N	\N	EFO	6	EFO	skeletal system disease	Polydactyly-myopia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2917	"" []	5997797	\N	\N	EFO	8	EFO	disposition	Polydactyly-myopia syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2917	"" []	5414191	\N	\N	EFO	7	EFO	disease	Polydactyly-myopia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2917	"" []	6551096	\N	\N	EFO	9	EFO	material property	Polydactyly-myopia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2917	"" []	6889227	\N	\N	EFO	10	EFO	experimental factor	Polydactyly-myopia syndrome
Orphanet:2919	\N	\N	"" []	Orphanet:2919	"" []	75878	\N	\N	EFO	0	EFO	Orofaciodigital syndrome type 5	Orofaciodigital syndrome type 5
Orphanet:140997	Orphanet:2919	\N	"" []	Orphanet:2919	"" []	218648	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome type 5
Orphanet:183763	Orphanet:2919	\N	"" []	Orphanet:2919	"" []	218649	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Orofaciodigital syndrome type 5
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:2919	"" []	573799	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome type 5
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:2919	"" []	573800	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome type 5
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:2919	"" []	573801	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome type 5
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:2919	"" []	573802	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome type 5
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2919	"" []	573803	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Orofaciodigital syndrome type 5
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:2919	"" []	1156441	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome type 5
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2919	"" []	1156442	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome type 5
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:2919	"" []	1156443	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 5
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2919	"" []	1156444	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome type 5
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2919	"" []	1156445	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome type 5
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2919	"" []	1156446	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Orofaciodigital syndrome type 5
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:2919	"" []	2039358	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 5
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2919	"" []	2039359	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 5
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2919	"" []	5414194	\N	\N	EFO	7	EFO	genetic disorder	Orofaciodigital syndrome type 5
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2919	"" []	2039361	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome type 5
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2919	"" []	2039362	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome type 5
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2919	"" []	2039363	\N	\N	EFO	4	EFO	genetic disorder	Orofaciodigital syndrome type 5
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2919	"" []	3189632	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2919	"" []	5817683	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 5
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2919	"" []	3189634	\N	\N	EFO	5	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 5
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2919	"" []	3189635	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 5
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2919	"" []	3189636	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2919	"" []	6410099	\N	\N	EFO	9	EFO	disposition	Orofaciodigital syndrome type 5
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2919	"" []	4396541	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome type 5
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2919	"" []	4396542	\N	\N	EFO	6	EFO	bone disease	Orofaciodigital syndrome type 5
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2919	"" []	4396543	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2919	"" []	6807940	\N	\N	EFO	10	EFO	material property	Orofaciodigital syndrome type 5
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2919	"" []	5414193	\N	\N	EFO	7	EFO	skeletal system disease	Orofaciodigital syndrome type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2919	"" []	7048680	\N	\N	EFO	11	EFO	experimental factor	Orofaciodigital syndrome type 5
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2919	"" []	6150479	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 5
Orphanet:2920	\N	\N	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	75879	\N	\N	EFO	0	EFO	Oliver syndrome	Oliver syndrome
Orphanet:102283	Orphanet:2920	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	218650	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Oliver syndrome
Orphanet:183763	Orphanet:2920	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	218651	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Oliver syndrome
Orphanet:294959	Orphanet:2920	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	218652	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Oliver syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	573804	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Oliver syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	573805	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Oliver syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	573806	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Oliver syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	573807	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Oliver syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	1156447	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oliver syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	1156448	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Oliver syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	1156449	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Oliver syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	1156450	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Oliver syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	4396546	\N	\N	EFO	6	EFO	genetic disorder	Oliver syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	2039365	\N	\N	EFO	4	EFO	genetic disorder	Oliver syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	2039366	\N	\N	EFO	4	EFO	Rare genetic bone disease	Oliver syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	2039367	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Oliver syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	2039368	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Oliver syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	5059924	\N	\N	EFO	7	EFO	disease	Oliver syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	3189638	\N	\N	EFO	5	EFO	genetic disorder	Oliver syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	3189639	\N	\N	EFO	5	EFO	bone disease	Oliver syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	3189640	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Oliver syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	5877246	\N	\N	EFO	8	EFO	disposition	Oliver syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	4396545	\N	\N	EFO	6	EFO	skeletal system disease	Oliver syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	6470475	\N	\N	EFO	9	EFO	material property	Oliver syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	5414196	\N	\N	EFO	7	EFO	disease	Oliver syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2920	"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." []	6848551	\N	\N	EFO	10	EFO	experimental factor	Oliver syndrome
Orphanet:2921	\N	\N	"" []	Orphanet:2921	"" []	75880	\N	\N	EFO	0	EFO	Preaxial polydactyly - colobomata - intellectual disability	Preaxial polydactyly - colobomata - intellectual disability
Orphanet:102283	Orphanet:2921	\N	"" []	Orphanet:2921	"" []	218653	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Preaxial polydactyly - colobomata - intellectual disability
Orphanet:183763	Orphanet:2921	\N	"" []	Orphanet:2921	"" []	218654	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Preaxial polydactyly - colobomata - intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2921	"" []	573808	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Preaxial polydactyly - colobomata - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2921	"" []	573809	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Preaxial polydactyly - colobomata - intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2921	"" []	1156451	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Preaxial polydactyly - colobomata - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2921	"" []	1156452	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Preaxial polydactyly - colobomata - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2921	"" []	2039369	\N	\N	EFO	4	EFO	genetic disorder	Preaxial polydactyly - colobomata - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2921	"" []	2039370	\N	\N	EFO	4	EFO	genetic disorder	Preaxial polydactyly - colobomata - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2921	"" []	3189642	\N	\N	EFO	5	EFO	disease	Preaxial polydactyly - colobomata - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2921	"" []	4396547	\N	\N	EFO	6	EFO	disposition	Preaxial polydactyly - colobomata - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2921	"" []	5414197	\N	\N	EFO	7	EFO	material property	Preaxial polydactyly - colobomata - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2921	"" []	6150481	\N	\N	EFO	8	EFO	experimental factor	Preaxial polydactyly - colobomata - intellectual disability
Orphanet:2924	\N	\N	"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)." []	Orphanet:2924	"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)." []	75881	\N	\N	EFO	0	EFO	Isolated polycystic liver disease	Isolated polycystic liver disease
Orphanet:156604	Orphanet:2924	\N	"" []	Orphanet:2924	"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)." []	218655	\N	\N	EFO	1	EFO	Genetic parenchymatous liver disease	Isolated polycystic liver disease
Orphanet:156601	Orphanet:156604	\N	"" []	Orphanet:2924	"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)." []	573810	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Isolated polycystic liver disease
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2924	"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)." []	1156453	\N	\N	EFO	3	EFO	digestive system disease	Isolated polycystic liver disease
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2924	"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)." []	1156454	\N	\N	EFO	3	EFO	genetic disorder	Isolated polycystic liver disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2924	"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)." []	2039371	\N	\N	EFO	4	EFO	disease	Isolated polycystic liver disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2924	"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)." []	2039372	\N	\N	EFO	4	EFO	disease	Isolated polycystic liver disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2924	"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)." []	3189643	\N	\N	EFO	5	EFO	disposition	Isolated polycystic liver disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2924	"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)." []	4396548	\N	\N	EFO	6	EFO	material property	Isolated polycystic liver disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2924	"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)." []	5414198	\N	\N	EFO	7	EFO	experimental factor	Isolated polycystic liver disease
Orphanet:2925	\N	\N	"" []	Orphanet:2925	"" []	75882	\N	\N	EFO	0	EFO	Polymicrogyria - turricephaly - hypogenitalism	Polymicrogyria - turricephaly - hypogenitalism
Orphanet:183763	Orphanet:2925	\N	"" []	Orphanet:2925	"" []	218656	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Polymicrogyria - turricephaly - hypogenitalism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2925	"" []	573811	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Polymicrogyria - turricephaly - hypogenitalism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2925	"" []	1156455	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Polymicrogyria - turricephaly - hypogenitalism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2925	"" []	2039373	\N	\N	EFO	4	EFO	genetic disorder	Polymicrogyria - turricephaly - hypogenitalism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2925	"" []	3189644	\N	\N	EFO	5	EFO	disease	Polymicrogyria - turricephaly - hypogenitalism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2925	"" []	4396549	\N	\N	EFO	6	EFO	disposition	Polymicrogyria - turricephaly - hypogenitalism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2925	"" []	5414199	\N	\N	EFO	7	EFO	material property	Polymicrogyria - turricephaly - hypogenitalism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2925	"" []	6150482	\N	\N	EFO	8	EFO	experimental factor	Polymicrogyria - turricephaly - hypogenitalism
Orphanet:2926	\N	\N	"" []	Orphanet:2926	"" []	75883	\N	\N	EFO	0	EFO	Polyneuropathy - hand defect	Polyneuropathy - hand defect
Orphanet:140450	Orphanet:2926	\N	"" []	Orphanet:2926	"" []	218657	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	Polyneuropathy - hand defect
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:2926	"" []	573812	\N	\N	EFO	2	EFO	motor neuron disease	Polyneuropathy - hand defect
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:2926	"" []	573813	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Polyneuropathy - hand defect
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:2926	"" []	1156456	\N	\N	EFO	3	EFO	neurodegenerative disease	Polyneuropathy - hand defect
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:2926	"" []	1156457	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Polyneuropathy - hand defect
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:2926	"" []	2039374	\N	\N	EFO	4	EFO	nervous system disease	Polyneuropathy - hand defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2926	"" []	2039375	\N	\N	EFO	4	EFO	genetic disorder	Polyneuropathy - hand defect
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2926	"" []	3189645	\N	\N	EFO	5	EFO	disease	Polyneuropathy - hand defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2926	"" []	3189646	\N	\N	EFO	5	EFO	disease	Polyneuropathy - hand defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2926	"" []	4396550	\N	\N	EFO	6	EFO	disposition	Polyneuropathy - hand defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2926	"" []	5414200	\N	\N	EFO	7	EFO	material property	Polyneuropathy - hand defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2926	"" []	6150483	\N	\N	EFO	8	EFO	experimental factor	Polyneuropathy - hand defect
Orphanet:2928	\N	\N	"" []	Orphanet:2928	"" []	75884	\N	\N	EFO	0	EFO	Polyneuropathy - intellectual disability - acromicria - premature menopause	Polyneuropathy - intellectual disability - acromicria - premature menopause
Orphanet:183763	Orphanet:2928	\N	"" []	Orphanet:2928	"" []	218658	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Polyneuropathy - intellectual disability - acromicria - premature menopause
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2928	"" []	573814	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Polyneuropathy - intellectual disability - acromicria - premature menopause
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2928	"" []	1156458	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Polyneuropathy - intellectual disability - acromicria - premature menopause
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2928	"" []	2039376	\N	\N	EFO	4	EFO	genetic disorder	Polyneuropathy - intellectual disability - acromicria - premature menopause
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2928	"" []	3189647	\N	\N	EFO	5	EFO	disease	Polyneuropathy - intellectual disability - acromicria - premature menopause
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2928	"" []	4396551	\N	\N	EFO	6	EFO	disposition	Polyneuropathy - intellectual disability - acromicria - premature menopause
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2928	"" []	5414201	\N	\N	EFO	7	EFO	material property	Polyneuropathy - intellectual disability - acromicria - premature menopause
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2928	"" []	6150484	\N	\N	EFO	8	EFO	experimental factor	Polyneuropathy - intellectual disability - acromicria - premature menopause
Orphanet:2929	\N	\N	"" []	Orphanet:2929	"" []	75885	\N	\N	EFO	0	EFO	Juvenile polyposis syndrome	Juvenile polyposis syndrome
Orphanet:140162	Orphanet:2929	\N	"" []	Orphanet:2929	"" []	218659	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Juvenile polyposis syndrome
Orphanet:363314	Orphanet:2929	\N	"" []	Orphanet:2929	"" []	218660	\N	\N	EFO	1	EFO	Genetic intestinal polyposis	Juvenile polyposis syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2929	"" []	573815	\N	\N	EFO	2	EFO	genetic disorder	Juvenile polyposis syndrome
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:2929	"" []	573816	\N	\N	EFO	2	EFO	Genetic intestinal disease	Juvenile polyposis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2929	"" []	3189650	\N	\N	EFO	5	EFO	disease	Juvenile polyposis syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2929	"" []	1156460	\N	\N	EFO	3	EFO	digestive system disease	Juvenile polyposis syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:2929	"" []	1156461	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Juvenile polyposis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2929	"" []	4066918	\N	\N	EFO	6	EFO	disposition	Juvenile polyposis syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2929	"" []	2039378	\N	\N	EFO	4	EFO	disease	Juvenile polyposis syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2929	"" []	2039379	\N	\N	EFO	4	EFO	genetic disorder	Juvenile polyposis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2929	"" []	5059925	\N	\N	EFO	7	EFO	material property	Juvenile polyposis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2929	"" []	5877247	\N	\N	EFO	8	EFO	experimental factor	Juvenile polyposis syndrome
Orphanet:2930	\N	\N	"" []	Orphanet:2930	"" []	75886	\N	\N	EFO	0	EFO	Cronkhite-Canada syndrome	Cronkhite-Canada syndrome
Orphanet:363314	Orphanet:2930	\N	"" []	Orphanet:2930	"" []	218661	\N	\N	EFO	1	EFO	Genetic intestinal polyposis	Cronkhite-Canada syndrome
Orphanet:79373	Orphanet:2930	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:2930	"" []	218662	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Cronkhite-Canada syndrome
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:2930	"" []	573817	\N	\N	EFO	2	EFO	Genetic intestinal disease	Cronkhite-Canada syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:2930	"" []	573818	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Cronkhite-Canada syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:2930	"" []	573819	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Cronkhite-Canada syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2930	"" []	1156462	\N	\N	EFO	3	EFO	digestive system disease	Cronkhite-Canada syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:2930	"" []	1156463	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Cronkhite-Canada syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2930	"" []	1156464	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cronkhite-Canada syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:2930	"" []	1156465	\N	\N	EFO	3	EFO	Rare genetic skin disease	Cronkhite-Canada syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2930	"" []	2039380	\N	\N	EFO	4	EFO	disease	Cronkhite-Canada syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2930	"" []	2039381	\N	\N	EFO	4	EFO	genetic disorder	Cronkhite-Canada syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2930	"" []	2039382	\N	\N	EFO	4	EFO	genetic disorder	Cronkhite-Canada syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2930	"" []	2039383	\N	\N	EFO	4	EFO	genetic disorder	Cronkhite-Canada syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2930	"" []	2039384	\N	\N	EFO	4	EFO	skin disease	Cronkhite-Canada syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2930	"" []	4396554	\N	\N	EFO	6	EFO	disposition	Cronkhite-Canada syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2930	"" []	3189652	\N	\N	EFO	5	EFO	disease	Cronkhite-Canada syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2930	"" []	3189653	\N	\N	EFO	5	EFO	disease	Cronkhite-Canada syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2930	"" []	5182460	\N	\N	EFO	7	EFO	material property	Cronkhite-Canada syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2930	"" []	5997799	\N	\N	EFO	8	EFO	experimental factor	Cronkhite-Canada syndrome
Orphanet:293144	\N	\N	"" []	Orphanet:293144	"" []	75887	\N	\N	EFO	0	EFO	Familial clubfoot due to 5q31 microdeletion	Familial clubfoot due to 5q31 microdeletion
Orphanet:199315	Orphanet:293144	\N	"" []	Orphanet:293144	"" []	218663	\N	\N	EFO	1	EFO	Familial clubfoot with or without associated lower limb anomalies	Familial clubfoot due to 5q31 microdeletion
Orphanet:404571	Orphanet:199315	\N	"" []	Orphanet:293144	"" []	573820	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Familial clubfoot due to 5q31 microdeletion
Orphanet:404577	Orphanet:199315	\N	"" []	Orphanet:293144	"" []	573821	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Familial clubfoot due to 5q31 microdeletion
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:293144	"" []	1156466	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Familial clubfoot due to 5q31 microdeletion
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:293144	"" []	1156467	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Familial clubfoot due to 5q31 microdeletion
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:293144	"" []	2039385	\N	\N	EFO	4	EFO	Rare genetic bone disease	Familial clubfoot due to 5q31 microdeletion
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:293144	"" []	2039386	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Familial clubfoot due to 5q31 microdeletion
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:293144	"" []	2039387	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial clubfoot due to 5q31 microdeletion
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293144	"" []	3189654	\N	\N	EFO	5	EFO	genetic disorder	Familial clubfoot due to 5q31 microdeletion
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:293144	"" []	3189655	\N	\N	EFO	5	EFO	bone disease	Familial clubfoot due to 5q31 microdeletion
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:293144	"" []	3189656	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Familial clubfoot due to 5q31 microdeletion
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293144	"" []	4396557	\N	\N	EFO	6	EFO	genetic disorder	Familial clubfoot due to 5q31 microdeletion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293144	"" []	5182461	\N	\N	EFO	7	EFO	disease	Familial clubfoot due to 5q31 microdeletion
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:293144	"" []	4396556	\N	\N	EFO	6	EFO	skeletal system disease	Familial clubfoot due to 5q31 microdeletion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293144	"" []	5997800	\N	\N	EFO	8	EFO	disposition	Familial clubfoot due to 5q31 microdeletion
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293144	"" []	5414204	\N	\N	EFO	7	EFO	disease	Familial clubfoot due to 5q31 microdeletion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293144	"" []	6551098	\N	\N	EFO	9	EFO	material property	Familial clubfoot due to 5q31 microdeletion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293144	"" []	6889228	\N	\N	EFO	10	EFO	experimental factor	Familial clubfoot due to 5q31 microdeletion
Orphanet:293150	\N	\N	"" []	Orphanet:293150	"" []	75888	\N	\N	EFO	0	EFO	Familial clubfoot due to PITX1 point mutation	Familial clubfoot due to PITX1 point mutation
Orphanet:199315	Orphanet:293150	\N	"" []	Orphanet:293150	"" []	218664	\N	\N	EFO	1	EFO	Familial clubfoot with or without associated lower limb anomalies	Familial clubfoot due to PITX1 point mutation
Orphanet:93455	Orphanet:293150	\N	"" []	Orphanet:293150	"" []	218665	\N	\N	EFO	1	EFO	Patellar dysostosis	Familial clubfoot due to PITX1 point mutation
Orphanet:404571	Orphanet:199315	\N	"" []	Orphanet:293150	"" []	573822	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Familial clubfoot due to PITX1 point mutation
Orphanet:404577	Orphanet:199315	\N	"" []	Orphanet:293150	"" []	573823	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Familial clubfoot due to PITX1 point mutation
Orphanet:404568	Orphanet:93455	\N	"" []	Orphanet:293150	"" []	573824	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Familial clubfoot due to PITX1 point mutation
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:293150	"" []	1156468	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Familial clubfoot due to PITX1 point mutation
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:293150	"" []	1156469	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Familial clubfoot due to PITX1 point mutation
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:293150	"" []	2039388	\N	\N	EFO	4	EFO	Rare genetic bone disease	Familial clubfoot due to PITX1 point mutation
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:293150	"" []	2039389	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Familial clubfoot due to PITX1 point mutation
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:293150	"" []	2039390	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial clubfoot due to PITX1 point mutation
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293150	"" []	3000284	\N	\N	EFO	5	EFO	genetic disorder	Familial clubfoot due to PITX1 point mutation
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:293150	"" []	3000285	\N	\N	EFO	5	EFO	bone disease	Familial clubfoot due to PITX1 point mutation
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:293150	"" []	3000286	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Familial clubfoot due to PITX1 point mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293150	"" []	4133799	\N	\N	EFO	6	EFO	genetic disorder	Familial clubfoot due to PITX1 point mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293150	"" []	5182462	\N	\N	EFO	7	EFO	disease	Familial clubfoot due to PITX1 point mutation
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:293150	"" []	4133798	\N	\N	EFO	6	EFO	skeletal system disease	Familial clubfoot due to PITX1 point mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293150	"" []	5877248	\N	\N	EFO	8	EFO	disposition	Familial clubfoot due to PITX1 point mutation
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293150	"" []	5182464	\N	\N	EFO	7	EFO	disease	Familial clubfoot due to PITX1 point mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293150	"" []	6470476	\N	\N	EFO	9	EFO	material property	Familial clubfoot due to PITX1 point mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293150	"" []	6848552	\N	\N	EFO	10	EFO	experimental factor	Familial clubfoot due to PITX1 point mutation
Orphanet:293165	\N	\N	"" []	Orphanet:293165	"" []	75889	\N	\N	EFO	0	EFO	Skin fragility-woolly hair-palmoplantar keratoderma syndrome	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Orphanet:307804	Orphanet:293165	\N	"" []	Orphanet:293165	"" []	218666	\N	\N	EFO	1	EFO	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Orphanet:307711	Orphanet:307804	\N	"" []	Orphanet:293165	"" []	573825	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:293165	"" []	1156472	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:293165	"" []	2039394	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:293165	"" []	3189661	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:293165	"" []	4396560	\N	\N	EFO	6	EFO	Rare genetic skin disease	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293165	"" []	5414206	\N	\N	EFO	7	EFO	genetic disorder	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:293165	"" []	5414207	\N	\N	EFO	7	EFO	skin disease	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293165	"" []	6150487	\N	\N	EFO	8	EFO	disease	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293165	"" []	6150488	\N	\N	EFO	8	EFO	disease	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293165	"" []	6633169	\N	\N	EFO	9	EFO	disposition	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293165	"" []	6925862	\N	\N	EFO	10	EFO	material property	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293165	"" []	7099170	\N	\N	EFO	11	EFO	experimental factor	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Orphanet:293168	\N	\N	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	Orphanet:293168	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	75890	\N	\N	EFO	0	EFO	Infantile-onset ascending hereditary spastic paralysis	Infantile-onset ascending hereditary spastic paralysis
Orphanet:98505	Orphanet:293168	\N	"" []	Orphanet:293168	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	218667	\N	\N	EFO	1	EFO	Genetic motor neuron disease	Infantile-onset ascending hereditary spastic paralysis
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:293168	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	573826	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Infantile-onset ascending hereditary spastic paralysis
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:293168	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	1156473	\N	\N	EFO	3	EFO	muscular disease	Infantile-onset ascending hereditary spastic paralysis
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:293168	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	1156474	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile-onset ascending hereditary spastic paralysis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:293168	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	2039395	\N	\N	EFO	4	EFO	skeletal system disease	Infantile-onset ascending hereditary spastic paralysis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293168	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	2039396	\N	\N	EFO	4	EFO	genetic disorder	Infantile-onset ascending hereditary spastic paralysis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293168	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	3189662	\N	\N	EFO	5	EFO	disease	Infantile-onset ascending hereditary spastic paralysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293168	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	3189663	\N	\N	EFO	5	EFO	disease	Infantile-onset ascending hereditary spastic paralysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293168	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	4396561	\N	\N	EFO	6	EFO	disposition	Infantile-onset ascending hereditary spastic paralysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293168	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	5414208	\N	\N	EFO	7	EFO	material property	Infantile-onset ascending hereditary spastic paralysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293168	"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." []	6150489	\N	\N	EFO	8	EFO	experimental factor	Infantile-onset ascending hereditary spastic paralysis
Orphanet:293181	\N	\N	"" []	Orphanet:293181	"" []	75891	\N	\N	EFO	0	EFO	Malignant migrating partial seizures of infancy	Malignant migrating partial seizures of infancy
Orphanet:182083	Orphanet:293181	\N	"" []	Orphanet:293181	"" []	218668	\N	\N	EFO	1	EFO	Channelopathy with epilepsy	Malignant migrating partial seizures of infancy
Orphanet:98257	Orphanet:293181	\N	"" []	Orphanet:293181	"" []	218669	\N	\N	EFO	1	EFO	Neonatal epilepsy syndrome	Malignant migrating partial seizures of infancy
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:293181	"" []	573827	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Malignant migrating partial seizures of infancy
Orphanet:166463	Orphanet:98257	\N	"" []	Orphanet:293181	"" []	573828	\N	\N	EFO	2	EFO	Epilepsy syndrome	Malignant migrating partial seizures of infancy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:293181	"" []	1156475	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Malignant migrating partial seizures of infancy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:293181	"" []	1156476	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Malignant migrating partial seizures of infancy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:293181	"" []	2039397	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Malignant migrating partial seizures of infancy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293181	"" []	3189664	\N	\N	EFO	5	EFO	genetic disorder	Malignant migrating partial seizures of infancy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293181	"" []	4396562	\N	\N	EFO	6	EFO	disease	Malignant migrating partial seizures of infancy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293181	"" []	5414209	\N	\N	EFO	7	EFO	disposition	Malignant migrating partial seizures of infancy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293181	"" []	6150490	\N	\N	EFO	8	EFO	material property	Malignant migrating partial seizures of infancy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293181	"" []	6633170	\N	\N	EFO	9	EFO	experimental factor	Malignant migrating partial seizures of infancy
Orphanet:293284	\N	\N	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	75892	\N	\N	EFO	0	EFO	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Orphanet:716	Orphanet:293284	\N	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	218670	\N	\N	EFO	1	EFO	Phenylketonuria	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Orphanet:284814	Orphanet:716	\N	"" []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	573829	\N	\N	EFO	2	EFO	Disorder of phenylalanine metabolism	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Orphanet:68385	Orphanet:716	\N	"" []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	573830	\N	\N	EFO	2	EFO	Neurometabolic disease	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Orphanet:79190	Orphanet:284814	\N	"" []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	1156477	\N	\N	EFO	3	EFO	Disorder of phenylalanin or tyrosine metabolism	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	1156478	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	2039398	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	2039399	\N	\N	EFO	4	EFO	genetic disorder	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	3189665	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	5414210	\N	\N	EFO	7	EFO	disease	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	4396563	\N	\N	EFO	6	EFO	genetic disorder	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	4396564	\N	\N	EFO	6	EFO	metabolic disease	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	5877249	\N	\N	EFO	8	EFO	disposition	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	5414211	\N	\N	EFO	7	EFO	disease	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	6470477	\N	\N	EFO	9	EFO	material property	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293284	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." []	6848553	\N	\N	EFO	10	EFO	experimental factor	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Orphanet:293355	\N	\N	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	Orphanet:293355	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	75893	\N	\N	EFO	0	EFO	Methylmalonic acidemia without homocystinuria	Methylmalonic acidemia without homocystinuria
Orphanet:79163	Orphanet:293355	\N	"" []	Orphanet:293355	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	218671	\N	\N	EFO	1	EFO	Classic organic aciduria	Methylmalonic acidemia without homocystinuria
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:293355	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	573831	\N	\N	EFO	2	EFO	Organic aciduria	Methylmalonic acidemia without homocystinuria
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:293355	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	1156479	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Methylmalonic acidemia without homocystinuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:293355	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	2039400	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Methylmalonic acidemia without homocystinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293355	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	3189667	\N	\N	EFO	5	EFO	genetic disorder	Methylmalonic acidemia without homocystinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:293355	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	3189668	\N	\N	EFO	5	EFO	metabolic disease	Methylmalonic acidemia without homocystinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293355	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	4396566	\N	\N	EFO	6	EFO	disease	Methylmalonic acidemia without homocystinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293355	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	4396567	\N	\N	EFO	6	EFO	disease	Methylmalonic acidemia without homocystinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293355	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	5414213	\N	\N	EFO	7	EFO	disposition	Methylmalonic acidemia without homocystinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293355	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	6150492	\N	\N	EFO	8	EFO	material property	Methylmalonic acidemia without homocystinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293355	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	6633171	\N	\N	EFO	9	EFO	experimental factor	Methylmalonic acidemia without homocystinuria
Orphanet:293375	\N	\N	"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." []	Orphanet:293375	"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." []	75894	\N	\N	EFO	0	EFO	Grayson-Wilbrandt corneal dystrophy	Grayson-Wilbrandt corneal dystrophy
Orphanet:98625	Orphanet:293375	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:293375	"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." []	218672	\N	\N	EFO	1	EFO	Superficial corneal dystrophy	Grayson-Wilbrandt corneal dystrophy
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:293375	"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." []	573832	\N	\N	EFO	2	EFO	Corneal dystrophy	Grayson-Wilbrandt corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:293375	"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." []	1156480	\N	\N	EFO	3	EFO	Rare genetic eye disease	Grayson-Wilbrandt corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293375	"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." []	2039401	\N	\N	EFO	4	EFO	genetic disorder	Grayson-Wilbrandt corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:293375	"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." []	2039402	\N	\N	EFO	4	EFO	eye disease	Grayson-Wilbrandt corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293375	"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." []	3189669	\N	\N	EFO	5	EFO	disease	Grayson-Wilbrandt corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293375	"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." []	3189670	\N	\N	EFO	5	EFO	disease	Grayson-Wilbrandt corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293375	"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." []	4396568	\N	\N	EFO	6	EFO	disposition	Grayson-Wilbrandt corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293375	"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." []	5414214	\N	\N	EFO	7	EFO	material property	Grayson-Wilbrandt corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293375	"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." []	6150493	\N	\N	EFO	8	EFO	experimental factor	Grayson-Wilbrandt corneal dystrophy
Orphanet:293381	\N	\N	"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." []	Orphanet:293381	"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." []	75895	\N	\N	EFO	0	EFO	Epithelial recurrent erosion dystrophy	Epithelial recurrent erosion dystrophy
Orphanet:98625	Orphanet:293381	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:293381	"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." []	218673	\N	\N	EFO	1	EFO	Superficial corneal dystrophy	Epithelial recurrent erosion dystrophy
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:293381	"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." []	573833	\N	\N	EFO	2	EFO	Corneal dystrophy	Epithelial recurrent erosion dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:293381	"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." []	1156481	\N	\N	EFO	3	EFO	Rare genetic eye disease	Epithelial recurrent erosion dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293381	"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." []	2039403	\N	\N	EFO	4	EFO	genetic disorder	Epithelial recurrent erosion dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:293381	"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." []	2039404	\N	\N	EFO	4	EFO	eye disease	Epithelial recurrent erosion dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293381	"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." []	3189671	\N	\N	EFO	5	EFO	disease	Epithelial recurrent erosion dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293381	"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." []	3189672	\N	\N	EFO	5	EFO	disease	Epithelial recurrent erosion dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293381	"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." []	4396569	\N	\N	EFO	6	EFO	disposition	Epithelial recurrent erosion dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293381	"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." []	5414215	\N	\N	EFO	7	EFO	material property	Epithelial recurrent erosion dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293381	"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." []	6150494	\N	\N	EFO	8	EFO	experimental factor	Epithelial recurrent erosion dystrophy
Orphanet:2934	\N	\N	"" []	Orphanet:2934	"" []	75896	\N	\N	EFO	0	EFO	Polysyndactyly - cardiac malformation	Polysyndactyly - cardiac malformation
Orphanet:330206	Orphanet:2934	\N	"" []	Orphanet:2934	"" []	218674	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Polysyndactyly - cardiac malformation
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2934	"" []	573834	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Polysyndactyly - cardiac malformation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2934	"" []	1156482	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Polysyndactyly - cardiac malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2934	"" []	2039405	\N	\N	EFO	4	EFO	genetic disorder	Polysyndactyly - cardiac malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2934	"" []	3189673	\N	\N	EFO	5	EFO	disease	Polysyndactyly - cardiac malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2934	"" []	4396570	\N	\N	EFO	6	EFO	disposition	Polysyndactyly - cardiac malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2934	"" []	5414216	\N	\N	EFO	7	EFO	material property	Polysyndactyly - cardiac malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2934	"" []	6150495	\N	\N	EFO	8	EFO	experimental factor	Polysyndactyly - cardiac malformation
Orphanet:293462	\N	\N	"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." []	Orphanet:293462	"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." []	75897	\N	\N	EFO	0	EFO	Pre-Descemet corneal dystrophy	Pre-Descemet corneal dystrophy
Orphanet:98626	Orphanet:293462	\N	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:293462	"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." []	218675	\N	\N	EFO	1	EFO	Stromal corneal dystrophy	Pre-Descemet corneal dystrophy
Orphanet:34533	Orphanet:98626	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:293462	"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." []	573835	\N	\N	EFO	2	EFO	Corneal dystrophy	Pre-Descemet corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:293462	"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." []	1156483	\N	\N	EFO	3	EFO	Rare genetic eye disease	Pre-Descemet corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293462	"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." []	2039406	\N	\N	EFO	4	EFO	genetic disorder	Pre-Descemet corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:293462	"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." []	2039407	\N	\N	EFO	4	EFO	eye disease	Pre-Descemet corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293462	"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." []	3189674	\N	\N	EFO	5	EFO	disease	Pre-Descemet corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293462	"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." []	3189675	\N	\N	EFO	5	EFO	disease	Pre-Descemet corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293462	"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." []	4396571	\N	\N	EFO	6	EFO	disposition	Pre-Descemet corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293462	"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." []	5414217	\N	\N	EFO	7	EFO	material property	Pre-Descemet corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293462	"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." []	6150496	\N	\N	EFO	8	EFO	experimental factor	Pre-Descemet corneal dystrophy
Orphanet:2935	\N	\N	"" []	Orphanet:2935	"" []	75898	\N	\N	EFO	0	EFO	Crossed polysyndactyly	Crossed polysyndactyly
Orphanet:294959	Orphanet:2935	\N	"" []	Orphanet:2935	"" []	218676	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Crossed polysyndactyly
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2935	"" []	573836	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Crossed polysyndactyly
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2935	"" []	573837	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Crossed polysyndactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2935	"" []	1156484	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Crossed polysyndactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2935	"" []	1156485	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Crossed polysyndactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2935	"" []	2039408	\N	\N	EFO	4	EFO	Rare genetic bone disease	Crossed polysyndactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2935	"" []	2039409	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Crossed polysyndactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2935	"" []	2039410	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Crossed polysyndactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2935	"" []	3189676	\N	\N	EFO	5	EFO	genetic disorder	Crossed polysyndactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2935	"" []	3189677	\N	\N	EFO	5	EFO	bone disease	Crossed polysyndactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2935	"" []	3189678	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Crossed polysyndactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2935	"" []	4396574	\N	\N	EFO	6	EFO	genetic disorder	Crossed polysyndactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2935	"" []	5182465	\N	\N	EFO	7	EFO	disease	Crossed polysyndactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2935	"" []	4396573	\N	\N	EFO	6	EFO	skeletal system disease	Crossed polysyndactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2935	"" []	5997802	\N	\N	EFO	8	EFO	disposition	Crossed polysyndactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2935	"" []	5414219	\N	\N	EFO	7	EFO	disease	Crossed polysyndactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2935	"" []	6551100	\N	\N	EFO	9	EFO	material property	Crossed polysyndactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2935	"" []	6889229	\N	\N	EFO	10	EFO	experimental factor	Crossed polysyndactyly
Orphanet:293603	\N	\N	"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." []	Orphanet:293603	"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." []	75899	\N	\N	EFO	0	EFO	Congenital hereditary endothelial dystrophy type II	Congenital hereditary endothelial dystrophy type II
Orphanet:98627	Orphanet:293603	\N	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	Orphanet:293603	"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." []	218677	\N	\N	EFO	1	EFO	Posterior corneal dystrophy	Congenital hereditary endothelial dystrophy type II
Orphanet:34533	Orphanet:98627	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:293603	"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." []	573838	\N	\N	EFO	2	EFO	Corneal dystrophy	Congenital hereditary endothelial dystrophy type II
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:293603	"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." []	1156486	\N	\N	EFO	3	EFO	Rare genetic eye disease	Congenital hereditary endothelial dystrophy type II
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293603	"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." []	2039411	\N	\N	EFO	4	EFO	genetic disorder	Congenital hereditary endothelial dystrophy type II
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:293603	"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." []	2039412	\N	\N	EFO	4	EFO	eye disease	Congenital hereditary endothelial dystrophy type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293603	"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." []	3189680	\N	\N	EFO	5	EFO	disease	Congenital hereditary endothelial dystrophy type II
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293603	"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." []	3189681	\N	\N	EFO	5	EFO	disease	Congenital hereditary endothelial dystrophy type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293603	"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." []	4396575	\N	\N	EFO	6	EFO	disposition	Congenital hereditary endothelial dystrophy type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293603	"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." []	5414220	\N	\N	EFO	7	EFO	material property	Congenital hereditary endothelial dystrophy type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293603	"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." []	6150498	\N	\N	EFO	8	EFO	experimental factor	Congenital hereditary endothelial dystrophy type II
Orphanet:293621	\N	\N	"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." []	Orphanet:293621	"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." []	75900	\N	\N	EFO	0	EFO	X-linked endothelial corneal dystrophy	X-linked endothelial corneal dystrophy
Orphanet:98627	Orphanet:293621	\N	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	Orphanet:293621	"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." []	218678	\N	\N	EFO	1	EFO	Posterior corneal dystrophy	X-linked endothelial corneal dystrophy
Orphanet:34533	Orphanet:98627	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:293621	"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." []	573839	\N	\N	EFO	2	EFO	Corneal dystrophy	X-linked endothelial corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:293621	"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." []	1156487	\N	\N	EFO	3	EFO	Rare genetic eye disease	X-linked endothelial corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293621	"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." []	2039413	\N	\N	EFO	4	EFO	genetic disorder	X-linked endothelial corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:293621	"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." []	2039414	\N	\N	EFO	4	EFO	eye disease	X-linked endothelial corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293621	"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." []	3189682	\N	\N	EFO	5	EFO	disease	X-linked endothelial corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293621	"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." []	3189683	\N	\N	EFO	5	EFO	disease	X-linked endothelial corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293621	"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." []	4396576	\N	\N	EFO	6	EFO	disposition	X-linked endothelial corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293621	"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." []	5414221	\N	\N	EFO	7	EFO	material property	X-linked endothelial corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293621	"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." []	6150499	\N	\N	EFO	8	EFO	experimental factor	X-linked endothelial corneal dystrophy
Orphanet:293633	\N	\N	"" []	Orphanet:293633	"" []	75901	\N	\N	EFO	0	EFO	PYCR1-related De Barsy syndrome	PYCR1-related De Barsy syndrome
Orphanet:2962	Orphanet:293633	\N	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	Orphanet:293633	"" []	218679	\N	\N	EFO	1	EFO	De Barsy syndrome	PYCR1-related De Barsy syndrome
Orphanet:207018	Orphanet:2962	\N	"" []	Orphanet:293633	"" []	573840	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	PYCR1-related De Barsy syndrome
Orphanet:209	Orphanet:2962	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:293633	"" []	573841	\N	\N	EFO	2	EFO	Cutis laxa	PYCR1-related De Barsy syndrome
Orphanet:289866	Orphanet:2962	\N	"" []	Orphanet:293633	"" []	573842	\N	\N	EFO	2	EFO	Disorder of proline metabolism	PYCR1-related De Barsy syndrome
Orphanet:68385	Orphanet:2962	\N	"" []	Orphanet:293633	"" []	573843	\N	\N	EFO	2	EFO	Neurometabolic disease	PYCR1-related De Barsy syndrome
Orphanet:79389	Orphanet:2962	\N	"" []	Orphanet:293633	"" []	573844	\N	\N	EFO	2	EFO	Premature aging	PYCR1-related De Barsy syndrome
Orphanet:98628	Orphanet:2962	\N	"" []	Orphanet:293633	"" []	573845	\N	\N	EFO	2	EFO	Syndromic corneal dystrophy	PYCR1-related De Barsy syndrome
Orphanet:98644	Orphanet:2962	\N	"" []	Orphanet:293633	"" []	573846	\N	\N	EFO	2	EFO	Cataract associated with a metabolic disease	PYCR1-related De Barsy syndrome
Orphanet:98712	Orphanet:2962	\N	"" []	Orphanet:293633	"" []	573847	\N	\N	EFO	2	EFO	Metabolic disease with cataract	PYCR1-related De Barsy syndrome
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:293633	"" []	1156488	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	PYCR1-related De Barsy syndrome
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:293633	"" []	1156489	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	PYCR1-related De Barsy syndrome
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:293633	"" []	1156490	\N	\N	EFO	3	EFO	Malformation syndrome with connective tissue involvement	PYCR1-related De Barsy syndrome
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:293633	"" []	1156491	\N	\N	EFO	3	EFO	Genetic dermis elastic tissue disorder	PYCR1-related De Barsy syndrome
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:293633	"" []	1156492	\N	\N	EFO	3	EFO	Congenital entropion	PYCR1-related De Barsy syndrome
Orphanet:79185	Orphanet:289866	\N	"" []	Orphanet:293633	"" []	1156493	\N	\N	EFO	3	EFO	Disorder of ornithine or proline metabolism	PYCR1-related De Barsy syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:293633	"" []	1156494	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	PYCR1-related De Barsy syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:293633	"" []	1156495	\N	\N	EFO	3	EFO	Rare genetic skin disease	PYCR1-related De Barsy syndrome
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:293633	"" []	1156496	\N	\N	EFO	3	EFO	Corneal dystrophy	PYCR1-related De Barsy syndrome
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:293633	"" []	1156497	\N	\N	EFO	3	EFO	Systemic disease with cataract	PYCR1-related De Barsy syndrome
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:293633	"" []	1156498	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	PYCR1-related De Barsy syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:293633	"" []	2039415	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	PYCR1-related De Barsy syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:293633	"" []	2039416	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	PYCR1-related De Barsy syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:293633	"" []	2039417	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	PYCR1-related De Barsy syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:293633	"" []	2039418	\N	\N	EFO	4	EFO	Genetic dermis disorder	PYCR1-related De Barsy syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:293633	"" []	2039419	\N	\N	EFO	4	EFO	Eyelids malposition disorder	PYCR1-related De Barsy syndrome
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:293633	"" []	2039420	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	PYCR1-related De Barsy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293633	"" []	4396577	\N	\N	EFO	6	EFO	genetic disorder	PYCR1-related De Barsy syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293633	"" []	4396579	\N	\N	EFO	6	EFO	genetic disorder	PYCR1-related De Barsy syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:293633	"" []	4396580	\N	\N	EFO	6	EFO	skin disease	PYCR1-related De Barsy syndrome
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:293633	"" []	2039424	\N	\N	EFO	4	EFO	Rare genetic eye disease	PYCR1-related De Barsy syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:293633	"" []	2039425	\N	\N	EFO	4	EFO	Syndromic cataract	PYCR1-related De Barsy syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:293633	"" []	2039426	\N	\N	EFO	4	EFO	Rare genetic eye disease	PYCR1-related De Barsy syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:293633	"" []	3189684	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	PYCR1-related De Barsy syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293633	"" []	3189685	\N	\N	EFO	5	EFO	genetic disorder	PYCR1-related De Barsy syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:293633	"" []	3189686	\N	\N	EFO	5	EFO	Rare genetic skin disease	PYCR1-related De Barsy syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:293633	"" []	3189687	\N	\N	EFO	5	EFO	Rare palpebral disease	PYCR1-related De Barsy syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:293633	"" []	3189688	\N	\N	EFO	5	EFO	Inborn errors of metabolism	PYCR1-related De Barsy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293633	"" []	6410100	\N	\N	EFO	9	EFO	disease	PYCR1-related De Barsy syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293633	"" []	5059927	\N	\N	EFO	7	EFO	disease	PYCR1-related De Barsy syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293633	"" []	6150500	\N	\N	EFO	8	EFO	genetic disorder	PYCR1-related De Barsy syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:293633	"" []	6150501	\N	\N	EFO	8	EFO	eye disease	PYCR1-related De Barsy syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:293633	"" []	3189693	\N	\N	EFO	5	EFO	Rare cataract	PYCR1-related De Barsy syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:293633	"" []	4396581	\N	\N	EFO	6	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	PYCR1-related De Barsy syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293633	"" []	4396582	\N	\N	EFO	6	EFO	genetic disorder	PYCR1-related De Barsy syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:293633	"" []	4396583	\N	\N	EFO	6	EFO	metabolic disease	PYCR1-related De Barsy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293633	"" []	6778722	\N	\N	EFO	10	EFO	disposition	PYCR1-related De Barsy syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293633	"" []	6410101	\N	\N	EFO	9	EFO	disease	PYCR1-related De Barsy syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:293633	"" []	4396586	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	PYCR1-related De Barsy syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:293633	"" []	5414222	\N	\N	EFO	7	EFO	Rare genetic eye disease	PYCR1-related De Barsy syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293633	"" []	5414223	\N	\N	EFO	7	EFO	disease	PYCR1-related De Barsy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293633	"" []	7029916	\N	\N	EFO	11	EFO	material property	PYCR1-related De Barsy syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:293633	"" []	5414225	\N	\N	EFO	7	EFO	Rare genetic eye disease	PYCR1-related De Barsy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293633	"" []	7181782	\N	\N	EFO	12	EFO	experimental factor	PYCR1-related De Barsy syndrome
Orphanet:293642	\N	\N	"" []	Orphanet:293642	"" []	75902	\N	\N	EFO	0	EFO	Blepharophimosis-intellectual disability syndrome	Blepharophimosis-intellectual disability syndrome
Orphanet:102283	Orphanet:293642	\N	"" []	Orphanet:293642	"" []	218680	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Blepharophimosis-intellectual disability syndrome
Orphanet:183763	Orphanet:293642	\N	"" []	Orphanet:293642	"" []	218681	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Blepharophimosis-intellectual disability syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:293642	"" []	573848	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Blepharophimosis-intellectual disability syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:293642	"" []	573849	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Blepharophimosis-intellectual disability syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:293642	"" []	1156499	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis-intellectual disability syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:293642	"" []	1156500	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Blepharophimosis-intellectual disability syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293642	"" []	2039427	\N	\N	EFO	4	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293642	"" []	2039428	\N	\N	EFO	4	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293642	"" []	3189694	\N	\N	EFO	5	EFO	disease	Blepharophimosis-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293642	"" []	4396587	\N	\N	EFO	6	EFO	disposition	Blepharophimosis-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293642	"" []	5414226	\N	\N	EFO	7	EFO	material property	Blepharophimosis-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293642	"" []	6150503	\N	\N	EFO	8	EFO	experimental factor	Blepharophimosis-intellectual disability syndrome
Orphanet:293707	\N	\N	"" []	Orphanet:293707	"" []	75903	\N	\N	EFO	0	EFO	Blepharophimosis-intellectual disability syndrome, MKB type	Blepharophimosis-intellectual disability syndrome, MKB type
Orphanet:293642	Orphanet:293707	\N	"" []	Orphanet:293707	"" []	218682	\N	\N	EFO	1	EFO	Blepharophimosis-intellectual disability syndrome	Blepharophimosis-intellectual disability syndrome, MKB type
Orphanet:102283	Orphanet:293642	\N	"" []	Orphanet:293707	"" []	573850	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Blepharophimosis-intellectual disability syndrome, MKB type
Orphanet:183763	Orphanet:293642	\N	"" []	Orphanet:293707	"" []	573851	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Blepharophimosis-intellectual disability syndrome, MKB type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:293707	"" []	1156501	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Blepharophimosis-intellectual disability syndrome, MKB type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:293707	"" []	1156502	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Blepharophimosis-intellectual disability syndrome, MKB type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:293707	"" []	2039429	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis-intellectual disability syndrome, MKB type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:293707	"" []	2039430	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Blepharophimosis-intellectual disability syndrome, MKB type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293707	"" []	3189695	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome, MKB type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293707	"" []	3189696	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome, MKB type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293707	"" []	4396588	\N	\N	EFO	6	EFO	disease	Blepharophimosis-intellectual disability syndrome, MKB type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293707	"" []	5414227	\N	\N	EFO	7	EFO	disposition	Blepharophimosis-intellectual disability syndrome, MKB type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293707	"" []	6150504	\N	\N	EFO	8	EFO	material property	Blepharophimosis-intellectual disability syndrome, MKB type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293707	"" []	6633173	\N	\N	EFO	9	EFO	experimental factor	Blepharophimosis-intellectual disability syndrome, MKB type
Orphanet:293725	\N	\N	"" []	Orphanet:293725	"" []	75904	\N	\N	EFO	0	EFO	Blepharophimosis-intellectual disability syndrome, Verloes type	Blepharophimosis-intellectual disability syndrome, Verloes type
Orphanet:293642	Orphanet:293725	\N	"" []	Orphanet:293725	"" []	218683	\N	\N	EFO	1	EFO	Blepharophimosis-intellectual disability syndrome	Blepharophimosis-intellectual disability syndrome, Verloes type
Orphanet:102283	Orphanet:293642	\N	"" []	Orphanet:293725	"" []	573852	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Blepharophimosis-intellectual disability syndrome, Verloes type
Orphanet:183763	Orphanet:293642	\N	"" []	Orphanet:293725	"" []	573853	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Blepharophimosis-intellectual disability syndrome, Verloes type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:293725	"" []	1156503	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Blepharophimosis-intellectual disability syndrome, Verloes type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:293725	"" []	1156504	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Blepharophimosis-intellectual disability syndrome, Verloes type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:293725	"" []	2039431	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis-intellectual disability syndrome, Verloes type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:293725	"" []	2039432	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Blepharophimosis-intellectual disability syndrome, Verloes type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293725	"" []	3189697	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome, Verloes type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293725	"" []	3189698	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome, Verloes type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293725	"" []	4396589	\N	\N	EFO	6	EFO	disease	Blepharophimosis-intellectual disability syndrome, Verloes type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293725	"" []	5414228	\N	\N	EFO	7	EFO	disposition	Blepharophimosis-intellectual disability syndrome, Verloes type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293725	"" []	6150505	\N	\N	EFO	8	EFO	material property	Blepharophimosis-intellectual disability syndrome, Verloes type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293725	"" []	6633174	\N	\N	EFO	9	EFO	experimental factor	Blepharophimosis-intellectual disability syndrome, Verloes type
Orphanet:293822	\N	\N	"" []	Orphanet:293822	"" []	75905	\N	\N	EFO	0	EFO	MITF-related melanoma and renal cell carcinoma predisposition syndrome	MITF-related melanoma and renal cell carcinoma predisposition syndrome
Orphanet:140162	Orphanet:293822	\N	"" []	Orphanet:293822	"" []	218684	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	MITF-related melanoma and renal cell carcinoma predisposition syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293822	"" []	573854	\N	\N	EFO	2	EFO	genetic disorder	MITF-related melanoma and renal cell carcinoma predisposition syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293822	"" []	1156505	\N	\N	EFO	3	EFO	disease	MITF-related melanoma and renal cell carcinoma predisposition syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293822	"" []	2039433	\N	\N	EFO	4	EFO	disposition	MITF-related melanoma and renal cell carcinoma predisposition syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293822	"" []	3189699	\N	\N	EFO	5	EFO	material property	MITF-related melanoma and renal cell carcinoma predisposition syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293822	"" []	4396590	\N	\N	EFO	6	EFO	experimental factor	MITF-related melanoma and renal cell carcinoma predisposition syndrome
Orphanet:293825	\N	\N	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	Orphanet:293825	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	75906	\N	\N	EFO	0	EFO	Congenital dyserythropoietic anemia type IV	Congenital dyserythropoietic anemia type IV
Orphanet:85	Orphanet:293825	\N	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	Orphanet:293825	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	218685	\N	\N	EFO	1	EFO	Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia type IV
Orphanet:293830	Orphanet:85	\N	"" []	Orphanet:293825	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	573855	\N	\N	EFO	2	EFO	Constitutional dyserythropoietic anemia	Congenital dyserythropoietic anemia type IV
Orphanet:183651	Orphanet:293830	\N	"" []	Orphanet:293825	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	1156506	\N	\N	EFO	3	EFO	Rare constitutional anemia	Congenital dyserythropoietic anemia type IV
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:293825	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	2039434	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Congenital dyserythropoietic anemia type IV
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293825	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	3189700	\N	\N	EFO	5	EFO	genetic disorder	Congenital dyserythropoietic anemia type IV
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:293825	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	3189701	\N	\N	EFO	5	EFO	hematological system disease	Congenital dyserythropoietic anemia type IV
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293825	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	4396591	\N	\N	EFO	6	EFO	disease	Congenital dyserythropoietic anemia type IV
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293825	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	4396592	\N	\N	EFO	6	EFO	disease	Congenital dyserythropoietic anemia type IV
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293825	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	5414229	\N	\N	EFO	7	EFO	disposition	Congenital dyserythropoietic anemia type IV
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293825	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	6150506	\N	\N	EFO	8	EFO	material property	Congenital dyserythropoietic anemia type IV
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293825	"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." []	6633175	\N	\N	EFO	9	EFO	experimental factor	Congenital dyserythropoietic anemia type IV
Orphanet:293830	\N	\N	"" []	Orphanet:293830	"" []	75907	\N	\N	EFO	0	EFO	Constitutional dyserythropoietic anemia	Constitutional dyserythropoietic anemia
Orphanet:183651	Orphanet:293830	\N	"" []	Orphanet:293830	"" []	218686	\N	\N	EFO	1	EFO	Rare constitutional anemia	Constitutional dyserythropoietic anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:293830	"" []	573856	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Constitutional dyserythropoietic anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293830	"" []	1156507	\N	\N	EFO	3	EFO	genetic disorder	Constitutional dyserythropoietic anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:293830	"" []	1156508	\N	\N	EFO	3	EFO	hematological system disease	Constitutional dyserythropoietic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293830	"" []	2039435	\N	\N	EFO	4	EFO	disease	Constitutional dyserythropoietic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293830	"" []	2039436	\N	\N	EFO	4	EFO	disease	Constitutional dyserythropoietic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293830	"" []	3189702	\N	\N	EFO	5	EFO	disposition	Constitutional dyserythropoietic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293830	"" []	4396593	\N	\N	EFO	6	EFO	material property	Constitutional dyserythropoietic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293830	"" []	5414230	\N	\N	EFO	7	EFO	experimental factor	Constitutional dyserythropoietic anemia
Orphanet:293843	\N	\N	"" []	Orphanet:293843	"" []	75908	\N	\N	EFO	0	EFO	Craniofacial-ulnar-renal syndrome	Craniofacial-ulnar-renal syndrome
Orphanet:102283	Orphanet:293843	\N	"" []	Orphanet:293843	"" []	218687	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Craniofacial-ulnar-renal syndrome
Orphanet:183763	Orphanet:293843	\N	"" []	Orphanet:293843	"" []	218688	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Craniofacial-ulnar-renal syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:293843	"" []	573857	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Craniofacial-ulnar-renal syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:293843	"" []	573858	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Craniofacial-ulnar-renal syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:293843	"" []	1156509	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Craniofacial-ulnar-renal syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:293843	"" []	1156510	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Craniofacial-ulnar-renal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293843	"" []	2039437	\N	\N	EFO	4	EFO	genetic disorder	Craniofacial-ulnar-renal syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293843	"" []	2039438	\N	\N	EFO	4	EFO	genetic disorder	Craniofacial-ulnar-renal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293843	"" []	3189703	\N	\N	EFO	5	EFO	disease	Craniofacial-ulnar-renal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293843	"" []	4396594	\N	\N	EFO	6	EFO	disposition	Craniofacial-ulnar-renal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293843	"" []	5414231	\N	\N	EFO	7	EFO	material property	Craniofacial-ulnar-renal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293843	"" []	6150507	\N	\N	EFO	8	EFO	experimental factor	Craniofacial-ulnar-renal syndrome
Orphanet:293848	\N	\N	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	75909	\N	\N	EFO	0	EFO	Right temporal lobar atrophy	Right temporal lobar atrophy
Orphanet:282	Orphanet:293848	\N	"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	218689	\N	\N	EFO	1	EFO	Frontotemporal dementia	Right temporal lobar atrophy
Orphanet:276061	Orphanet:282	\N	"" []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	573859	\N	\N	EFO	2	EFO	Genetic frontotemporal degeneration with dementia	Right temporal lobar atrophy
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	1156511	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease with dementia	Right temporal lobar atrophy
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	2039439	\N	\N	EFO	4	EFO	Genetic dementia	Right temporal lobar atrophy
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	2039440	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Right temporal lobar atrophy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	3189704	\N	\N	EFO	5	EFO	brain disease	Right temporal lobar atrophy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	3189705	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Right temporal lobar atrophy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	3189706	\N	\N	EFO	5	EFO	neurodegenerative disease	Right temporal lobar atrophy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	3189707	\N	\N	EFO	5	EFO	brain disease	Right temporal lobar atrophy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	3189708	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Right temporal lobar atrophy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	4396595	\N	\N	EFO	6	EFO	nervous system disease	Right temporal lobar atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	4396596	\N	\N	EFO	6	EFO	genetic disorder	Right temporal lobar atrophy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	4396597	\N	\N	EFO	6	EFO	nervous system disease	Right temporal lobar atrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	5414232	\N	\N	EFO	7	EFO	disease	Right temporal lobar atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	5414233	\N	\N	EFO	7	EFO	disease	Right temporal lobar atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	6150508	\N	\N	EFO	8	EFO	disposition	Right temporal lobar atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	6633176	\N	\N	EFO	9	EFO	material property	Right temporal lobar atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293848	"Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." []	6925863	\N	\N	EFO	10	EFO	experimental factor	Right temporal lobar atrophy
Orphanet:293864	\N	\N	"" []	Orphanet:293864	"" []	75910	\N	\N	EFO	0	EFO	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Orphanet:108969	Orphanet:293864	\N	"" []	Orphanet:293864	"" []	218690	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Orphanet:108973	Orphanet:293864	\N	"" []	Orphanet:293864	"" []	218691	\N	\N	EFO	1	EFO	Syndromic visceral malformation	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:293864	"" []	573860	\N	\N	EFO	2	EFO	Intestinal malformation	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Orphanet:183548	Orphanet:108973	\N	"" []	Orphanet:293864	"" []	573861	\N	\N	EFO	2	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:293864	"" []	1156512	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:293864	"" []	1156513	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:293864	"" []	2039441	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293864	"" []	3189709	\N	\N	EFO	5	EFO	genetic disorder	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293864	"" []	4133800	\N	\N	EFO	6	EFO	disease	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293864	"" []	5182467	\N	\N	EFO	7	EFO	disposition	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293864	"" []	5997804	\N	\N	EFO	8	EFO	material property	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293864	"" []	6551102	\N	\N	EFO	9	EFO	experimental factor	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Orphanet:293888	\N	\N	"" []	Orphanet:293888	"" []	75911	\N	\N	EFO	0	EFO	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Orphanet:217656	Orphanet:293888	\N	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	Orphanet:293888	"" []	218692	\N	\N	EFO	1	EFO	Familial isolated arrhythmogenic right ventricular dysplasia	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Orphanet:247	Orphanet:217656	\N	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	Orphanet:293888	"" []	573862	\N	\N	EFO	2	EFO	Arrhythmogenic right ventricular dysplasia	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Orphanet:98054	Orphanet:247	\N	"" []	Orphanet:293888	"" []	1156514	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293888	"" []	2039443	\N	\N	EFO	4	EFO	genetic disorder	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:293888	"" []	2039444	\N	\N	EFO	4	EFO	heart disease	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293888	"" []	3189711	\N	\N	EFO	5	EFO	disease	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:293888	"" []	3189712	\N	\N	EFO	5	EFO	cardiovascular disease	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293888	"" []	5414236	\N	\N	EFO	7	EFO	disposition	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293888	"" []	4396600	\N	\N	EFO	6	EFO	disease	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293888	"" []	5997805	\N	\N	EFO	8	EFO	material property	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293888	"" []	6551103	\N	\N	EFO	9	EFO	experimental factor	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Orphanet:293899	\N	\N	"" []	Orphanet:293899	"" []	75912	\N	\N	EFO	0	EFO	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Orphanet:217656	Orphanet:293899	\N	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	Orphanet:293899	"" []	218693	\N	\N	EFO	1	EFO	Familial isolated arrhythmogenic right ventricular dysplasia	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Orphanet:247	Orphanet:217656	\N	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	Orphanet:293899	"" []	573863	\N	\N	EFO	2	EFO	Arrhythmogenic right ventricular dysplasia	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Orphanet:98054	Orphanet:247	\N	"" []	Orphanet:293899	"" []	1156515	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293899	"" []	2039445	\N	\N	EFO	4	EFO	genetic disorder	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:293899	"" []	2039446	\N	\N	EFO	4	EFO	heart disease	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293899	"" []	3189713	\N	\N	EFO	5	EFO	disease	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:293899	"" []	3189714	\N	\N	EFO	5	EFO	cardiovascular disease	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293899	"" []	5414238	\N	\N	EFO	7	EFO	disposition	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293899	"" []	4396602	\N	\N	EFO	6	EFO	disease	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293899	"" []	5997806	\N	\N	EFO	8	EFO	material property	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293899	"" []	6551104	\N	\N	EFO	9	EFO	experimental factor	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Orphanet:293910	\N	\N	"" []	Orphanet:293910	"" []	75913	\N	\N	EFO	0	EFO	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Orphanet:217656	Orphanet:293910	\N	"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." []	Orphanet:293910	"" []	218694	\N	\N	EFO	1	EFO	Familial isolated arrhythmogenic right ventricular dysplasia	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Orphanet:247	Orphanet:217656	\N	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	Orphanet:293910	"" []	573864	\N	\N	EFO	2	EFO	Arrhythmogenic right ventricular dysplasia	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Orphanet:98054	Orphanet:247	\N	"" []	Orphanet:293910	"" []	1156516	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293910	"" []	2039447	\N	\N	EFO	4	EFO	genetic disorder	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:293910	"" []	2039448	\N	\N	EFO	4	EFO	heart disease	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293910	"" []	3189715	\N	\N	EFO	5	EFO	disease	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:293910	"" []	3189716	\N	\N	EFO	5	EFO	cardiovascular disease	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293910	"" []	5414240	\N	\N	EFO	7	EFO	disposition	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293910	"" []	4396604	\N	\N	EFO	6	EFO	disease	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293910	"" []	5997807	\N	\N	EFO	8	EFO	material property	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293910	"" []	6551105	\N	\N	EFO	9	EFO	experimental factor	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Orphanet:293925	\N	\N	"" []	Orphanet:293925	"" []	75914	\N	\N	EFO	0	EFO	Lethal occipital encephalocele-skeletal dysplasia syndrome	Lethal occipital encephalocele-skeletal dysplasia syndrome
Orphanet:139393	Orphanet:293925	\N	"" []	Orphanet:293925	"" []	218695	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Lethal occipital encephalocele-skeletal dysplasia syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:293925	"" []	573865	\N	\N	EFO	2	EFO	Craniosynostosis	Lethal occipital encephalocele-skeletal dysplasia syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:293925	"" []	1156517	\N	\N	EFO	3	EFO	Genetic cranial malformation	Lethal occipital encephalocele-skeletal dysplasia syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:293925	"" []	1156518	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Lethal occipital encephalocele-skeletal dysplasia syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:293925	"" []	2039449	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lethal occipital encephalocele-skeletal dysplasia syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:293925	"" []	2039450	\N	\N	EFO	4	EFO	Rare genetic bone disease	Lethal occipital encephalocele-skeletal dysplasia syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:293925	"" []	2039451	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Lethal occipital encephalocele-skeletal dysplasia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293925	"" []	4396607	\N	\N	EFO	6	EFO	genetic disorder	Lethal occipital encephalocele-skeletal dysplasia syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293925	"" []	3189718	\N	\N	EFO	5	EFO	genetic disorder	Lethal occipital encephalocele-skeletal dysplasia syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:293925	"" []	3189719	\N	\N	EFO	5	EFO	bone disease	Lethal occipital encephalocele-skeletal dysplasia syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:293925	"" []	3189720	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lethal occipital encephalocele-skeletal dysplasia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293925	"" []	5182468	\N	\N	EFO	7	EFO	disease	Lethal occipital encephalocele-skeletal dysplasia syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:293925	"" []	4396606	\N	\N	EFO	6	EFO	skeletal system disease	Lethal occipital encephalocele-skeletal dysplasia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293925	"" []	5997808	\N	\N	EFO	8	EFO	disposition	Lethal occipital encephalocele-skeletal dysplasia syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293925	"" []	5414242	\N	\N	EFO	7	EFO	disease	Lethal occipital encephalocele-skeletal dysplasia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293925	"" []	6551106	\N	\N	EFO	9	EFO	material property	Lethal occipital encephalocele-skeletal dysplasia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293925	"" []	6889230	\N	\N	EFO	10	EFO	experimental factor	Lethal occipital encephalocele-skeletal dysplasia syndrome
Orphanet:293936	\N	\N	"" []	Orphanet:293936	"" []	75915	\N	\N	EFO	0	EFO	EDICT syndrome	EDICT syndrome
Orphanet:98623	Orphanet:293936	\N	"" []	Orphanet:293936	"" []	218696	\N	\N	EFO	1	EFO	Syndromic keratoconus	EDICT syndrome
Orphanet:156071	Orphanet:98623	\N	"" []	Orphanet:293936	"" []	573866	\N	\N	EFO	2	EFO	Keratoconus	EDICT syndrome
Orphanet:101435	Orphanet:156071	\N	"" []	Orphanet:293936	"" []	1156519	\N	\N	EFO	3	EFO	Rare genetic eye disease	EDICT syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293936	"" []	2039452	\N	\N	EFO	4	EFO	genetic disorder	EDICT syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:293936	"" []	2039453	\N	\N	EFO	4	EFO	eye disease	EDICT syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293936	"" []	3189721	\N	\N	EFO	5	EFO	disease	EDICT syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293936	"" []	3189722	\N	\N	EFO	5	EFO	disease	EDICT syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293936	"" []	4396608	\N	\N	EFO	6	EFO	disposition	EDICT syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293936	"" []	5414243	\N	\N	EFO	7	EFO	material property	EDICT syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293936	"" []	6150514	\N	\N	EFO	8	EFO	experimental factor	EDICT syndrome
Orphanet:293939	\N	\N	"" []	Orphanet:293939	"" []	75916	\N	\N	EFO	0	EFO	Distal Xq28 microduplication syndrome	Distal Xq28 microduplication syndrome
Orphanet:263783	Orphanet:293939	\N	"" []	Orphanet:293939	"" []	218697	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome X	Distal Xq28 microduplication syndrome
Orphanet:263768	Orphanet:263783	\N	"" []	Orphanet:293939	"" []	573867	\N	\N	EFO	2	EFO	Partial duplication of chromosome X	Distal Xq28 microduplication syndrome
Orphanet:98159	Orphanet:263768	\N	"" []	Orphanet:293939	"" []	1156520	\N	\N	EFO	3	EFO	Chromosome X structural anomaly	Distal Xq28 microduplication syndrome
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:293939	"" []	2039454	\N	\N	EFO	4	EFO	Gonosome structural anomaly	Distal Xq28 microduplication syndrome
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:293939	"" []	3189723	\N	\N	EFO	5	EFO	Gonosome anomaly	Distal Xq28 microduplication syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:293939	"" []	4396609	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal Xq28 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293939	"" []	5414244	\N	\N	EFO	7	EFO	genetic disorder	Distal Xq28 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293939	"" []	6150515	\N	\N	EFO	8	EFO	disease	Distal Xq28 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293939	"" []	6633178	\N	\N	EFO	9	EFO	disposition	Distal Xq28 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293939	"" []	6925864	\N	\N	EFO	10	EFO	material property	Distal Xq28 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293939	"" []	7099171	\N	\N	EFO	11	EFO	experimental factor	Distal Xq28 microduplication syndrome
Orphanet:293948	\N	\N	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	75917	\N	\N	EFO	0	EFO	1p21.3 microdeletion syndrome	1p21.3 microdeletion syndrome
Orphanet:180772	Orphanet:293948	\N	"" []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	218698	\N	\N	EFO	1	EFO	Rare disease with autism	1p21.3 microdeletion syndrome
Orphanet:261857	Orphanet:293948	\N	"" []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	218699	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 1	1p21.3 microdeletion syndrome
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	573868	\N	\N	EFO	2	EFO	Rare pervasive developmental disorder	1p21.3 microdeletion syndrome
Orphanet:261766	Orphanet:261857	\N	"" []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	573869	\N	\N	EFO	2	EFO	Partial deletion of chromosome 1	1p21.3 microdeletion syndrome
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	1156521	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	1p21.3 microdeletion syndrome
Orphanet:98142	Orphanet:261766	\N	"" []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	1156522	\N	\N	EFO	3	EFO	Partial autosomal monosomy	1p21.3 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	2039455	\N	\N	EFO	4	EFO	genetic disorder	1p21.3 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	2039456	\N	\N	EFO	4	EFO	Autosomal monosomy	1p21.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	6150517	\N	\N	EFO	8	EFO	disease	1p21.3 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	3189725	\N	\N	EFO	5	EFO	Autosomal anomaly	1p21.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	6410102	\N	\N	EFO	9	EFO	disposition	1p21.3 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	4396611	\N	\N	EFO	6	EFO	Chromosomal anomaly	1p21.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	6807941	\N	\N	EFO	10	EFO	material property	1p21.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	5414246	\N	\N	EFO	7	EFO	genetic disorder	1p21.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293948	"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." []	7048681	\N	\N	EFO	11	EFO	experimental factor	1p21.3 microdeletion syndrome
Orphanet:293955	\N	\N	"" []	Orphanet:293955	"" []	75918	\N	\N	EFO	0	EFO	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Orphanet:298644	Orphanet:293955	\N	"" []	Orphanet:293955	"" []	218700	\N	\N	EFO	1	EFO	Disorder of thiamine metabolism and transport	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
EFO:0005596	Orphanet:298644	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:293955	"" []	573870	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Orphanet:309827	Orphanet:298644	\N	"" []	Orphanet:293955	"" []	573871	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:293955	"" []	1156523	\N	\N	EFO	3	EFO	metabolic disease	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:293955	"" []	1156524	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293955	"" []	4396614	\N	\N	EFO	6	EFO	disease	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:293955	"" []	2039458	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293955	"" []	5059928	\N	\N	EFO	7	EFO	disposition	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293955	"" []	3189727	\N	\N	EFO	5	EFO	genetic disorder	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:293955	"" []	3189728	\N	\N	EFO	5	EFO	metabolic disease	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293955	"" []	5877251	\N	\N	EFO	8	EFO	material property	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293955	"" []	4396613	\N	\N	EFO	6	EFO	disease	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293955	"" []	6470479	\N	\N	EFO	9	EFO	experimental factor	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Orphanet:293958	\N	\N	"" []	Orphanet:293958	"" []	75919	\N	\N	EFO	0	EFO	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Orphanet:90642	Orphanet:293958	\N	"" []	Orphanet:293958	"" []	218701	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:293958	"" []	573872	\N	\N	EFO	2	EFO	Rare genetic deafness	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293958	"" []	1156525	\N	\N	EFO	3	EFO	genetic disorder	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:293958	"" []	1156526	\N	\N	EFO	3	EFO	auditory system disease	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293958	"" []	2039459	\N	\N	EFO	4	EFO	disease	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:293958	"" []	2039460	\N	\N	EFO	4	EFO	sensory system disease	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293958	"" []	5414249	\N	\N	EFO	7	EFO	disposition	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:293958	"" []	3189730	\N	\N	EFO	5	EFO	nervous system disease	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293958	"" []	5877252	\N	\N	EFO	8	EFO	material property	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293958	"" []	4396616	\N	\N	EFO	6	EFO	disease	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293958	"" []	6470480	\N	\N	EFO	9	EFO	experimental factor	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Orphanet:293964	\N	\N	"" []	Orphanet:293964	"" []	75920	\N	\N	EFO	0	EFO	Hypoinsulinemic hypoglycemia and body hemihypertrophy	Hypoinsulinemic hypoglycemia and body hemihypertrophy
Orphanet:156638	Orphanet:293964	\N	"" []	Orphanet:293964	"" []	218702	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Hypoinsulinemic hypoglycemia and body hemihypertrophy
Orphanet:93460	Orphanet:293964	\N	"" []	Orphanet:293964	"" []	218703	\N	\N	EFO	1	EFO	Overgrowth syndrome	Hypoinsulinemic hypoglycemia and body hemihypertrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293964	"" []	573873	\N	\N	EFO	2	EFO	genetic disorder	Hypoinsulinemic hypoglycemia and body hemihypertrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:293964	"" []	573874	\N	\N	EFO	2	EFO	endocrine system disease	Hypoinsulinemic hypoglycemia and body hemihypertrophy
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:293964	"" []	573875	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Hypoinsulinemic hypoglycemia and body hemihypertrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293964	"" []	3189732	\N	\N	EFO	5	EFO	disease	Hypoinsulinemic hypoglycemia and body hemihypertrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293964	"" []	1156528	\N	\N	EFO	3	EFO	disease	Hypoinsulinemic hypoglycemia and body hemihypertrophy
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:293964	"" []	1156529	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypoinsulinemic hypoglycemia and body hemihypertrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293964	"" []	4066919	\N	\N	EFO	6	EFO	disposition	Hypoinsulinemic hypoglycemia and body hemihypertrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293964	"" []	2039462	\N	\N	EFO	4	EFO	genetic disorder	Hypoinsulinemic hypoglycemia and body hemihypertrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293964	"" []	5059929	\N	\N	EFO	7	EFO	material property	Hypoinsulinemic hypoglycemia and body hemihypertrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293964	"" []	5877253	\N	\N	EFO	8	EFO	experimental factor	Hypoinsulinemic hypoglycemia and body hemihypertrophy
Orphanet:293967	\N	\N	"" []	Orphanet:293967	"" []	75921	\N	\N	EFO	0	EFO	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:181387	Orphanet:293967	\N	"" []	Orphanet:293967	"" []	218704	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:269528	Orphanet:293967	\N	"" []	Orphanet:293967	"" []	218705	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:90642	Orphanet:293967	\N	"" []	Orphanet:293967	"" []	218706	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:293967	"" []	573876	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:293967	"" []	573877	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:293967	"" []	573878	\N	\N	EFO	2	EFO	Rare genetic deafness	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:293967	"" []	1156530	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:293967	"" []	1156531	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:293967	"" []	1156532	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:293967	"" []	1156533	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293967	"" []	1156534	\N	\N	EFO	3	EFO	genetic disorder	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:293967	"" []	1156535	\N	\N	EFO	3	EFO	auditory system disease	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:293967	"" []	2039463	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:293967	"" []	2039464	\N	\N	EFO	4	EFO	Rare genetic male infertility	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:293967	"" []	2039465	\N	\N	EFO	4	EFO	Pituitary deficiency	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:293967	"" []	2039466	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:293967	"" []	2039467	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293967	"" []	6150518	\N	\N	EFO	8	EFO	disease	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:293967	"" []	2039469	\N	\N	EFO	4	EFO	sensory system disease	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293967	"" []	3189733	\N	\N	EFO	5	EFO	genetic disorder	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:293967	"" []	3189734	\N	\N	EFO	5	EFO	reproductive system disease	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:293967	"" []	3189735	\N	\N	EFO	5	EFO	Genetic infertility	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:293967	"" []	3189736	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293967	"" []	3189737	\N	\N	EFO	5	EFO	genetic disorder	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293967	"" []	3189738	\N	\N	EFO	5	EFO	genetic disorder	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293967	"" []	6378919	\N	\N	EFO	9	EFO	disposition	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:293967	"" []	3189740	\N	\N	EFO	5	EFO	nervous system disease	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293967	"" []	5414251	\N	\N	EFO	7	EFO	disease	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293967	"" []	4396620	\N	\N	EFO	6	EFO	genetic disorder	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:293967	"" []	4396621	\N	\N	EFO	6	EFO	reproductive system disease	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:293967	"" []	4396622	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293967	"" []	6778723	\N	\N	EFO	10	EFO	material property	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293967	"" []	4396624	\N	\N	EFO	6	EFO	disease	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293967	"" []	5414252	\N	\N	EFO	7	EFO	genetic disorder	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:293967	"" []	5414253	\N	\N	EFO	7	EFO	endocrine system disease	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293967	"" []	7029917	\N	\N	EFO	11	EFO	experimental factor	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293967	"" []	6150519	\N	\N	EFO	8	EFO	disease	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:293978	\N	\N	"" []	Orphanet:293978	"" []	75922	\N	\N	EFO	0	EFO	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:331244	Orphanet:293978	\N	"" []	Orphanet:293978	"" []	218707	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome with predominantly antibody defects	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:95495	Orphanet:293978	\N	"" []	Orphanet:293978	"" []	218708	\N	\N	EFO	1	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:101977	Orphanet:331244	\N	"" []	Orphanet:293978	"" []	573879	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:293978	"" []	573880	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:293978	"" []	1156536	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:293978	"" []	1156537	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:293978	"" []	2039470	\N	\N	EFO	4	EFO	Primary immunodeficiency	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:293978	"" []	2039471	\N	\N	EFO	4	EFO	Pituitary deficiency	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:293978	"" []	3189741	\N	\N	EFO	5	EFO	Rare genetic immune disease	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:293978	"" []	3189742	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293978	"" []	4396625	\N	\N	EFO	6	EFO	genetic disorder	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:293978	"" []	4396626	\N	\N	EFO	6	EFO	immune system disease	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:293978	"" []	4396627	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293978	"" []	6150521	\N	\N	EFO	8	EFO	disease	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293978	"" []	5414256	\N	\N	EFO	7	EFO	disease	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293978	"" []	5414257	\N	\N	EFO	7	EFO	genetic disorder	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:293978	"" []	5414258	\N	\N	EFO	7	EFO	endocrine system disease	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293978	"" []	6551107	\N	\N	EFO	9	EFO	disposition	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293978	"" []	6150522	\N	\N	EFO	8	EFO	disease	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293978	"" []	6889231	\N	\N	EFO	10	EFO	material property	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293978	"" []	7085934	\N	\N	EFO	11	EFO	experimental factor	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:293987	\N	\N	"" []	Orphanet:293987	"" []	75923	\N	\N	EFO	0	EFO	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
Orphanet:240371	Orphanet:293987	\N	"" []	Orphanet:293987	"" []	218709	\N	\N	EFO	1	EFO	Syndromic obesity	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:293987	"" []	573881	\N	\N	EFO	2	EFO	Genetic obesity	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:293987	"" []	1156538	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:293987	"" []	1156539	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293987	"" []	2039472	\N	\N	EFO	4	EFO	genetic disorder	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:293987	"" []	2039473	\N	\N	EFO	4	EFO	endocrine system disease	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:293987	"" []	2039474	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293987	"" []	4396629	\N	\N	EFO	6	EFO	disease	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:293987	"" []	3189744	\N	\N	EFO	5	EFO	disease	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:293987	"" []	3189745	\N	\N	EFO	5	EFO	genetic disorder	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:293987	"" []	5182469	\N	\N	EFO	7	EFO	disposition	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:293987	"" []	5997809	\N	\N	EFO	8	EFO	material property	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:293987	"" []	6551108	\N	\N	EFO	9	EFO	experimental factor	Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
Orphanet:2940	\N	\N	"" []	Orphanet:2940	"" []	75924	\N	\N	EFO	0	EFO	Porencephaly	Porencephaly
Orphanet:166478	Orphanet:2940	\N	"" []	Orphanet:2940	"" []	218710	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Porencephaly
Orphanet:269190	Orphanet:2940	\N	"" []	Orphanet:2940	"" []	218711	\N	\N	EFO	1	EFO	Encephaloclastic disorder	Porencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:2940	"" []	573882	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Porencephaly
Orphanet:269553	Orphanet:269190	\N	"" []	Orphanet:2940	"" []	573883	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Porencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2940	"" []	1156540	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Porencephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:2940	"" []	1156541	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Porencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2940	"" []	4396632	\N	\N	EFO	6	EFO	genetic disorder	Porencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:2940	"" []	2039476	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Porencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2940	"" []	5059931	\N	\N	EFO	7	EFO	disease	Porencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2940	"" []	3189747	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Porencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2940	"" []	3189748	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Porencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2940	"" []	5877255	\N	\N	EFO	8	EFO	disposition	Porencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2940	"" []	4396631	\N	\N	EFO	6	EFO	genetic disorder	Porencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2940	"" []	6470482	\N	\N	EFO	9	EFO	material property	Porencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2940	"" []	6848555	\N	\N	EFO	10	EFO	experimental factor	Porencephaly
Orphanet:294016	\N	\N	"" []	Orphanet:294016	"" []	75925	\N	\N	EFO	0	EFO	Microcephaly-capillary malformation syndrome	Microcephaly-capillary malformation syndrome
Orphanet:211240	Orphanet:294016	\N	"" []	Orphanet:294016	"" []	218712	\N	\N	EFO	1	EFO	Genetic vascular anomaly	Microcephaly-capillary malformation syndrome
Orphanet:269528	Orphanet:294016	\N	"" []	Orphanet:294016	"" []	218713	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Microcephaly-capillary malformation syndrome
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:294016	"" []	573884	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly-capillary malformation syndrome
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:294016	"" []	573885	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephaly-capillary malformation syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294016	"" []	3189750	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly-capillary malformation syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:294016	"" []	1156543	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microcephaly-capillary malformation syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294016	"" []	4066920	\N	\N	EFO	6	EFO	disease	Microcephaly-capillary malformation syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:294016	"" []	2039478	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly-capillary malformation syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:294016	"" []	2039479	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephaly-capillary malformation syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294016	"" []	5059932	\N	\N	EFO	7	EFO	disposition	Microcephaly-capillary malformation syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294016	"" []	3189751	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly-capillary malformation syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294016	"" []	5877256	\N	\N	EFO	8	EFO	material property	Microcephaly-capillary malformation syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294016	"" []	6470483	\N	\N	EFO	9	EFO	experimental factor	Microcephaly-capillary malformation syndrome
Orphanet:294023	\N	\N	"" []	Orphanet:294023	"" []	75926	\N	\N	EFO	0	EFO	Neonatal inflammatory skin and bowel disease	Neonatal inflammatory skin and bowel disease
Orphanet:165655	Orphanet:294023	\N	"" []	Orphanet:294023	"" []	218714	\N	\N	EFO	1	EFO	Genetic intestinal disease	Neonatal inflammatory skin and bowel disease
Orphanet:79360	Orphanet:294023	\N	"" []	Orphanet:294023	"" []	218715	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Neonatal inflammatory skin and bowel disease
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:294023	"" []	573886	\N	\N	EFO	2	EFO	digestive system disease	Neonatal inflammatory skin and bowel disease
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:294023	"" []	573887	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Neonatal inflammatory skin and bowel disease
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:294023	"" []	573888	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Neonatal inflammatory skin and bowel disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294023	"" []	1156544	\N	\N	EFO	3	EFO	disease	Neonatal inflammatory skin and bowel disease
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294023	"" []	1156545	\N	\N	EFO	3	EFO	genetic disorder	Neonatal inflammatory skin and bowel disease
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:294023	"" []	1156546	\N	\N	EFO	3	EFO	Rare genetic skin disease	Neonatal inflammatory skin and bowel disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294023	"" []	4133802	\N	\N	EFO	6	EFO	disposition	Neonatal inflammatory skin and bowel disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294023	"" []	3189754	\N	\N	EFO	5	EFO	disease	Neonatal inflammatory skin and bowel disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294023	"" []	2039482	\N	\N	EFO	4	EFO	genetic disorder	Neonatal inflammatory skin and bowel disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:294023	"" []	2039483	\N	\N	EFO	4	EFO	skin disease	Neonatal inflammatory skin and bowel disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294023	"" []	5059933	\N	\N	EFO	7	EFO	material property	Neonatal inflammatory skin and bowel disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294023	"" []	3189755	\N	\N	EFO	5	EFO	disease	Neonatal inflammatory skin and bowel disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294023	"" []	5877257	\N	\N	EFO	8	EFO	experimental factor	Neonatal inflammatory skin and bowel disease
Orphanet:294026	\N	\N	"" []	Orphanet:294026	"" []	75927	\N	\N	EFO	0	EFO	2q31.1 microduplication syndrome	2q31.1 microduplication syndrome
Orphanet:262842	Orphanet:294026	\N	"" []	Orphanet:294026	"" []	218716	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 2	2q31.1 microduplication syndrome
Orphanet:262196	Orphanet:262842	\N	"" []	Orphanet:294026	"" []	573889	\N	\N	EFO	2	EFO	Partial duplication of chromosome 2	2q31.1 microduplication syndrome
Orphanet:98132	Orphanet:262196	\N	"" []	Orphanet:294026	"" []	1156547	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	2q31.1 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:294026	"" []	2039484	\N	\N	EFO	4	EFO	Autosomal trisomy	2q31.1 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:294026	"" []	3189756	\N	\N	EFO	5	EFO	Autosomal anomaly	2q31.1 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:294026	"" []	4396635	\N	\N	EFO	6	EFO	Chromosomal anomaly	2q31.1 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294026	"" []	5414262	\N	\N	EFO	7	EFO	genetic disorder	2q31.1 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294026	"" []	6150525	\N	\N	EFO	8	EFO	disease	2q31.1 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294026	"" []	6633180	\N	\N	EFO	9	EFO	disposition	2q31.1 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294026	"" []	6925866	\N	\N	EFO	10	EFO	material property	2q31.1 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294026	"" []	7099172	\N	\N	EFO	11	EFO	experimental factor	2q31.1 microduplication syndrome
Orphanet:294049	\N	\N	"" []	Orphanet:294049	"" []	75928	\N	\N	EFO	0	EFO	Reunion Island's Larsen syndrome	Reunion Island's Larsen syndrome
Orphanet:93441	Orphanet:294049	\N	"" []	Orphanet:294049	"" []	218717	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Reunion Island's Larsen syndrome
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:294049	"" []	573890	\N	\N	EFO	2	EFO	Primary bone dysplasia	Reunion Island's Larsen syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:294049	"" []	1156548	\N	\N	EFO	3	EFO	Rare genetic bone disease	Reunion Island's Larsen syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:294049	"" []	1156549	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Reunion Island's Larsen syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294049	"" []	2039485	\N	\N	EFO	4	EFO	genetic disorder	Reunion Island's Larsen syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294049	"" []	2039486	\N	\N	EFO	4	EFO	bone disease	Reunion Island's Larsen syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294049	"" []	2039487	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Reunion Island's Larsen syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294049	"" []	4396638	\N	\N	EFO	6	EFO	disease	Reunion Island's Larsen syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294049	"" []	3189758	\N	\N	EFO	5	EFO	skeletal system disease	Reunion Island's Larsen syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294049	"" []	3189759	\N	\N	EFO	5	EFO	genetic disorder	Reunion Island's Larsen syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294049	"" []	5182471	\N	\N	EFO	7	EFO	disposition	Reunion Island's Larsen syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294049	"" []	4396637	\N	\N	EFO	6	EFO	disease	Reunion Island's Larsen syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294049	"" []	5997810	\N	\N	EFO	8	EFO	material property	Reunion Island's Larsen syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294049	"" []	6551109	\N	\N	EFO	9	EFO	experimental factor	Reunion Island's Larsen syndrome
Orphanet:294060	\N	\N	"" []	Orphanet:294060	"" []	75929	\N	\N	EFO	0	EFO	Multiple pterygium syndrome	Multiple pterygium syndrome
Orphanet:109007	Orphanet:294060	\N	"" []	Orphanet:294060	"" []	218718	\N	\N	EFO	1	EFO	Arthrogryposis syndrome	Multiple pterygium syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:294060	"" []	573891	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Multiple pterygium syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:294060	"" []	1156550	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Multiple pterygium syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294060	"" []	2039488	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Multiple pterygium syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294060	"" []	3189760	\N	\N	EFO	5	EFO	genetic disorder	Multiple pterygium syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294060	"" []	4396639	\N	\N	EFO	6	EFO	disease	Multiple pterygium syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294060	"" []	5414264	\N	\N	EFO	7	EFO	disposition	Multiple pterygium syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294060	"" []	6150527	\N	\N	EFO	8	EFO	material property	Multiple pterygium syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294060	"" []	6633181	\N	\N	EFO	9	EFO	experimental factor	Multiple pterygium syndrome
Orphanet:294415	\N	\N	"" []	Orphanet:294415	"" []	75930	\N	\N	EFO	0	EFO	Renal-hepatic-pancreatic dysplasia	Renal-hepatic-pancreatic dysplasia
Orphanet:108973	Orphanet:294415	\N	"" []	Orphanet:294415	"" []	218719	\N	\N	EFO	1	EFO	Syndromic visceral malformation	Renal-hepatic-pancreatic dysplasia
Orphanet:93547	Orphanet:294415	\N	"" []	Orphanet:294415	"" []	218720	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Renal-hepatic-pancreatic dysplasia
Orphanet:183548	Orphanet:108973	\N	"" []	Orphanet:294415	"" []	573892	\N	\N	EFO	2	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Renal-hepatic-pancreatic dysplasia
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:294415	"" []	573893	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Renal-hepatic-pancreatic dysplasia
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:294415	"" []	1156551	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renal-hepatic-pancreatic dysplasia
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:294415	"" []	1156552	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renal-hepatic-pancreatic dysplasia
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:294415	"" []	1156553	\N	\N	EFO	3	EFO	Rare genetic renal disease	Renal-hepatic-pancreatic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294415	"" []	2039489	\N	\N	EFO	4	EFO	genetic disorder	Renal-hepatic-pancreatic dysplasia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294415	"" []	2039490	\N	\N	EFO	4	EFO	genetic disorder	Renal-hepatic-pancreatic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294415	"" []	3189761	\N	\N	EFO	5	EFO	disease	Renal-hepatic-pancreatic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294415	"" []	4396640	\N	\N	EFO	6	EFO	disposition	Renal-hepatic-pancreatic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294415	"" []	5414265	\N	\N	EFO	7	EFO	material property	Renal-hepatic-pancreatic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294415	"" []	6150528	\N	\N	EFO	8	EFO	experimental factor	Renal-hepatic-pancreatic dysplasia
Orphanet:2946	\N	\N	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	75931	\N	\N	EFO	0	EFO	Brachydactyly - long thumb	Brachydactyly - long thumb
Orphanet:101934	Orphanet:2946	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	218721	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Brachydactyly - long thumb
Orphanet:228184	Orphanet:2946	\N	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	218722	\N	\N	EFO	1	EFO	Heart-hand syndrome	Brachydactyly - long thumb
Orphanet:69028	Orphanet:2946	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	218723	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly - long thumb
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	573894	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Brachydactyly - long thumb
Orphanet:404571	Orphanet:228184	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	573895	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly - long thumb
Orphanet:404577	Orphanet:228184	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	573896	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly - long thumb
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	573897	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly - long thumb
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	573898	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly - long thumb
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	1156554	\N	\N	EFO	3	EFO	genetic disorder	Brachydactyly - long thumb
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	1156555	\N	\N	EFO	3	EFO	heart disease	Brachydactyly - long thumb
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	1156556	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly - long thumb
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	1156557	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly - long thumb
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	5182473	\N	\N	EFO	7	EFO	disease	Brachydactyly - long thumb
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	2039492	\N	\N	EFO	4	EFO	cardiovascular disease	Brachydactyly - long thumb
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	2039493	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly - long thumb
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	2039494	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly - long thumb
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	2039495	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly - long thumb
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	5817685	\N	\N	EFO	8	EFO	disposition	Brachydactyly - long thumb
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	3189763	\N	\N	EFO	5	EFO	disease	Brachydactyly - long thumb
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	3189764	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly - long thumb
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	3189765	\N	\N	EFO	5	EFO	bone disease	Brachydactyly - long thumb
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	3189766	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly - long thumb
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	4396645	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly - long thumb
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	6410104	\N	\N	EFO	9	EFO	material property	Brachydactyly - long thumb
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	4396644	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly - long thumb
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	6807943	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly - long thumb
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2946	"Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." []	5414267	\N	\N	EFO	7	EFO	disease	Brachydactyly - long thumb
Orphanet:2947	\N	\N	"" []	Orphanet:2947	"" []	75932	\N	\N	EFO	0	EFO	Triphalangeal thumbs - brachyectrodactyly	Triphalangeal thumbs - brachyectrodactyly
Orphanet:294959	Orphanet:2947	\N	"" []	Orphanet:2947	"" []	218724	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Triphalangeal thumbs - brachyectrodactyly
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2947	"" []	573899	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Triphalangeal thumbs - brachyectrodactyly
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2947	"" []	573900	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Triphalangeal thumbs - brachyectrodactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2947	"" []	1156558	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Triphalangeal thumbs - brachyectrodactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2947	"" []	1156559	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Triphalangeal thumbs - brachyectrodactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2947	"" []	2039496	\N	\N	EFO	4	EFO	Rare genetic bone disease	Triphalangeal thumbs - brachyectrodactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2947	"" []	2039497	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Triphalangeal thumbs - brachyectrodactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2947	"" []	2039498	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Triphalangeal thumbs - brachyectrodactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2947	"" []	3189768	\N	\N	EFO	5	EFO	genetic disorder	Triphalangeal thumbs - brachyectrodactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2947	"" []	3189769	\N	\N	EFO	5	EFO	bone disease	Triphalangeal thumbs - brachyectrodactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2947	"" []	3189770	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Triphalangeal thumbs - brachyectrodactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2947	"" []	4396648	\N	\N	EFO	6	EFO	genetic disorder	Triphalangeal thumbs - brachyectrodactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2947	"" []	5182474	\N	\N	EFO	7	EFO	disease	Triphalangeal thumbs - brachyectrodactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2947	"" []	4396647	\N	\N	EFO	6	EFO	skeletal system disease	Triphalangeal thumbs - brachyectrodactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2947	"" []	5997812	\N	\N	EFO	8	EFO	disposition	Triphalangeal thumbs - brachyectrodactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2947	"" []	5414269	\N	\N	EFO	7	EFO	disease	Triphalangeal thumbs - brachyectrodactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2947	"" []	6551110	\N	\N	EFO	9	EFO	material property	Triphalangeal thumbs - brachyectrodactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2947	"" []	6889232	\N	\N	EFO	10	EFO	experimental factor	Triphalangeal thumbs - brachyectrodactyly
Orphanet:294925	\N	\N	"" []	Orphanet:294925	"" []	75933	\N	\N	EFO	0	EFO	Amelia	Amelia
Orphanet:93457	Orphanet:294925	\N	"" []	Orphanet:294925	"" []	218725	\N	\N	EFO	1	EFO	Non-syndromic limb reduction defect	Amelia
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294925	"" []	573901	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Amelia
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294925	"" []	573902	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Amelia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294925	"" []	1156560	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Amelia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294925	"" []	1156561	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Amelia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294925	"" []	2039499	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Amelia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294925	"" []	2039500	\N	\N	EFO	4	EFO	Rare genetic bone disease	Amelia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294925	"" []	2039501	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Amelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294925	"" []	4396651	\N	\N	EFO	6	EFO	genetic disorder	Amelia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294925	"" []	3189773	\N	\N	EFO	5	EFO	genetic disorder	Amelia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294925	"" []	3189774	\N	\N	EFO	5	EFO	bone disease	Amelia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294925	"" []	3189775	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Amelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294925	"" []	5182475	\N	\N	EFO	7	EFO	disease	Amelia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294925	"" []	4396650	\N	\N	EFO	6	EFO	skeletal system disease	Amelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294925	"" []	5997813	\N	\N	EFO	8	EFO	disposition	Amelia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294925	"" []	5414271	\N	\N	EFO	7	EFO	disease	Amelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294925	"" []	6551111	\N	\N	EFO	9	EFO	material property	Amelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294925	"" []	6889233	\N	\N	EFO	10	EFO	experimental factor	Amelia
Orphanet:294927	\N	\N	"" []	Orphanet:294927	"" []	75934	\N	\N	EFO	0	EFO	Intercalary limb defects	Intercalary limb defects
Orphanet:93457	Orphanet:294927	\N	"" []	Orphanet:294927	"" []	218726	\N	\N	EFO	1	EFO	Non-syndromic limb reduction defect	Intercalary limb defects
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294927	"" []	573903	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Intercalary limb defects
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294927	"" []	573904	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Intercalary limb defects
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294927	"" []	1156562	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Intercalary limb defects
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294927	"" []	1156563	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Intercalary limb defects
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294927	"" []	2039502	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Intercalary limb defects
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294927	"" []	2039503	\N	\N	EFO	4	EFO	Rare genetic bone disease	Intercalary limb defects
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294927	"" []	2039504	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Intercalary limb defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294927	"" []	4396654	\N	\N	EFO	6	EFO	genetic disorder	Intercalary limb defects
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294927	"" []	3189777	\N	\N	EFO	5	EFO	genetic disorder	Intercalary limb defects
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294927	"" []	3189778	\N	\N	EFO	5	EFO	bone disease	Intercalary limb defects
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294927	"" []	3189779	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Intercalary limb defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294927	"" []	5182476	\N	\N	EFO	7	EFO	disease	Intercalary limb defects
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294927	"" []	4396653	\N	\N	EFO	6	EFO	skeletal system disease	Intercalary limb defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294927	"" []	5997814	\N	\N	EFO	8	EFO	disposition	Intercalary limb defects
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294927	"" []	5414273	\N	\N	EFO	7	EFO	disease	Intercalary limb defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294927	"" []	6551112	\N	\N	EFO	9	EFO	material property	Intercalary limb defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294927	"" []	6889234	\N	\N	EFO	10	EFO	experimental factor	Intercalary limb defects
Orphanet:294929	\N	\N	"" []	Orphanet:294929	"" []	75935	\N	\N	EFO	0	EFO	Terminal limb defects	Terminal limb defects
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294929	"" []	218727	\N	\N	EFO	1	EFO	Non-syndromic limb reduction defect	Terminal limb defects
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294929	"" []	573905	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Terminal limb defects
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294929	"" []	573906	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Terminal limb defects
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294929	"" []	1156564	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Terminal limb defects
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294929	"" []	1156565	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Terminal limb defects
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294929	"" []	2039505	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Terminal limb defects
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294929	"" []	2039506	\N	\N	EFO	4	EFO	Rare genetic bone disease	Terminal limb defects
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294929	"" []	2039507	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Terminal limb defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294929	"" []	4396657	\N	\N	EFO	6	EFO	genetic disorder	Terminal limb defects
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294929	"" []	3189781	\N	\N	EFO	5	EFO	genetic disorder	Terminal limb defects
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294929	"" []	3189782	\N	\N	EFO	5	EFO	bone disease	Terminal limb defects
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294929	"" []	3189783	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Terminal limb defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294929	"" []	5182477	\N	\N	EFO	7	EFO	disease	Terminal limb defects
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294929	"" []	4396656	\N	\N	EFO	6	EFO	skeletal system disease	Terminal limb defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294929	"" []	5997815	\N	\N	EFO	8	EFO	disposition	Terminal limb defects
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294929	"" []	5414275	\N	\N	EFO	7	EFO	disease	Terminal limb defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294929	"" []	6551113	\N	\N	EFO	9	EFO	material property	Terminal limb defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294929	"" []	6889235	\N	\N	EFO	10	EFO	experimental factor	Terminal limb defects
Orphanet:294931	\N	\N	"" []	Orphanet:294931	"" []	75936	\N	\N	EFO	0	EFO	Adactyly of hand	Adactyly of hand
Orphanet:294929	Orphanet:294931	\N	"" []	Orphanet:294931	"" []	218728	\N	\N	EFO	1	EFO	Terminal limb defects	Adactyly of hand
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294931	"" []	573907	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Adactyly of hand
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294931	"" []	1156566	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Adactyly of hand
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294931	"" []	1156567	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Adactyly of hand
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294931	"" []	2039508	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Adactyly of hand
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294931	"" []	2039509	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Adactyly of hand
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294931	"" []	3189784	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Adactyly of hand
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294931	"" []	3189785	\N	\N	EFO	5	EFO	Rare genetic bone disease	Adactyly of hand
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294931	"" []	3189786	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Adactyly of hand
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294931	"" []	5414278	\N	\N	EFO	7	EFO	genetic disorder	Adactyly of hand
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294931	"" []	4396659	\N	\N	EFO	6	EFO	genetic disorder	Adactyly of hand
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294931	"" []	4396660	\N	\N	EFO	6	EFO	bone disease	Adactyly of hand
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294931	"" []	4396661	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Adactyly of hand
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294931	"" []	5997816	\N	\N	EFO	8	EFO	disease	Adactyly of hand
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294931	"" []	5414277	\N	\N	EFO	7	EFO	skeletal system disease	Adactyly of hand
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294931	"" []	6551114	\N	\N	EFO	9	EFO	disposition	Adactyly of hand
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294931	"" []	6150534	\N	\N	EFO	8	EFO	disease	Adactyly of hand
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294931	"" []	6889236	\N	\N	EFO	10	EFO	material property	Adactyly of hand
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294931	"" []	7085935	\N	\N	EFO	11	EFO	experimental factor	Adactyly of hand
Orphanet:294935	\N	\N	"" []	Orphanet:294935	"" []	75937	\N	\N	EFO	0	EFO	Split hand or/and split foot malformation	Split hand or/and split foot malformation
Orphanet:294929	Orphanet:294935	\N	"" []	Orphanet:294935	"" []	218729	\N	\N	EFO	1	EFO	Terminal limb defects	Split hand or/and split foot malformation
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294935	"" []	573908	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Split hand or/and split foot malformation
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294935	"" []	1156568	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Split hand or/and split foot malformation
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294935	"" []	1156569	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Split hand or/and split foot malformation
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294935	"" []	2039510	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Split hand or/and split foot malformation
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294935	"" []	2039511	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Split hand or/and split foot malformation
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294935	"" []	3189787	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Split hand or/and split foot malformation
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294935	"" []	3189788	\N	\N	EFO	5	EFO	Rare genetic bone disease	Split hand or/and split foot malformation
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294935	"" []	3189789	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Split hand or/and split foot malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294935	"" []	5414281	\N	\N	EFO	7	EFO	genetic disorder	Split hand or/and split foot malformation
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294935	"" []	4396663	\N	\N	EFO	6	EFO	genetic disorder	Split hand or/and split foot malformation
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294935	"" []	4396664	\N	\N	EFO	6	EFO	bone disease	Split hand or/and split foot malformation
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294935	"" []	4396665	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Split hand or/and split foot malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294935	"" []	5997817	\N	\N	EFO	8	EFO	disease	Split hand or/and split foot malformation
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294935	"" []	5414280	\N	\N	EFO	7	EFO	skeletal system disease	Split hand or/and split foot malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294935	"" []	6551115	\N	\N	EFO	9	EFO	disposition	Split hand or/and split foot malformation
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294935	"" []	6150536	\N	\N	EFO	8	EFO	disease	Split hand or/and split foot malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294935	"" []	6889237	\N	\N	EFO	10	EFO	material property	Split hand or/and split foot malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294935	"" []	7085936	\N	\N	EFO	11	EFO	experimental factor	Split hand or/and split foot malformation
Orphanet:294937	\N	\N	"" []	Orphanet:294937	"" []	75938	\N	\N	EFO	0	EFO	Brachydactyly	Brachydactyly
Orphanet:294929	Orphanet:294937	\N	"" []	Orphanet:294937	"" []	218730	\N	\N	EFO	1	EFO	Terminal limb defects	Brachydactyly
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294937	"" []	573909	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Brachydactyly
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294937	"" []	1156570	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Brachydactyly
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294937	"" []	1156571	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294937	"" []	2039512	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Brachydactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294937	"" []	2039513	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Brachydactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294937	"" []	3189790	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294937	"" []	3189791	\N	\N	EFO	5	EFO	Rare genetic bone disease	Brachydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294937	"" []	3189792	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Brachydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294937	"" []	5414284	\N	\N	EFO	7	EFO	genetic disorder	Brachydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294937	"" []	4396667	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294937	"" []	4396668	\N	\N	EFO	6	EFO	bone disease	Brachydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294937	"" []	4396669	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294937	"" []	5997818	\N	\N	EFO	8	EFO	disease	Brachydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294937	"" []	5414283	\N	\N	EFO	7	EFO	skeletal system disease	Brachydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294937	"" []	6551116	\N	\N	EFO	9	EFO	disposition	Brachydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294937	"" []	6150538	\N	\N	EFO	8	EFO	disease	Brachydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294937	"" []	6889238	\N	\N	EFO	10	EFO	material property	Brachydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294937	"" []	7085937	\N	\N	EFO	11	EFO	experimental factor	Brachydactyly
Orphanet:294939	\N	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	75939	\N	\N	EFO	0	EFO	Preaxial polydactyly of fingers	Preaxial polydactyly of fingers
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	218731	\N	\N	EFO	1	EFO	Polydactyly	Preaxial polydactyly of fingers
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	573910	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Preaxial polydactyly of fingers
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	1156572	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Preaxial polydactyly of fingers
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	1156573	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Preaxial polydactyly of fingers
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	2039514	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Preaxial polydactyly of fingers
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	2039515	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Preaxial polydactyly of fingers
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	3189793	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Preaxial polydactyly of fingers
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	3189794	\N	\N	EFO	5	EFO	Rare genetic bone disease	Preaxial polydactyly of fingers
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	3189795	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Preaxial polydactyly of fingers
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	5414287	\N	\N	EFO	7	EFO	genetic disorder	Preaxial polydactyly of fingers
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	4396671	\N	\N	EFO	6	EFO	genetic disorder	Preaxial polydactyly of fingers
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	4396672	\N	\N	EFO	6	EFO	bone disease	Preaxial polydactyly of fingers
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	4396673	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Preaxial polydactyly of fingers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	5997819	\N	\N	EFO	8	EFO	disease	Preaxial polydactyly of fingers
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	5414286	\N	\N	EFO	7	EFO	skeletal system disease	Preaxial polydactyly of fingers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	6551117	\N	\N	EFO	9	EFO	disposition	Preaxial polydactyly of fingers
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	6150540	\N	\N	EFO	8	EFO	disease	Preaxial polydactyly of fingers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	6889239	\N	\N	EFO	10	EFO	material property	Preaxial polydactyly of fingers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294939	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	7085938	\N	\N	EFO	11	EFO	experimental factor	Preaxial polydactyly of fingers
Orphanet:294942	\N	\N	"" []	Orphanet:294942	"" []	75940	\N	\N	EFO	0	EFO	Postaxial polydactyly of fingers	Postaxial polydactyly of fingers
Orphanet:2913	Orphanet:294942	\N	"" []	Orphanet:294942	"" []	218732	\N	\N	EFO	1	EFO	Polydactyly	Postaxial polydactyly of fingers
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:294942	"" []	573911	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Postaxial polydactyly of fingers
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:294942	"" []	1156574	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Postaxial polydactyly of fingers
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:294942	"" []	1156575	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial polydactyly of fingers
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294942	"" []	2039516	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Postaxial polydactyly of fingers
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294942	"" []	2039517	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Postaxial polydactyly of fingers
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294942	"" []	3189796	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly of fingers
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294942	"" []	3189797	\N	\N	EFO	5	EFO	Rare genetic bone disease	Postaxial polydactyly of fingers
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294942	"" []	3189798	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Postaxial polydactyly of fingers
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294942	"" []	5414290	\N	\N	EFO	7	EFO	genetic disorder	Postaxial polydactyly of fingers
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294942	"" []	4396675	\N	\N	EFO	6	EFO	genetic disorder	Postaxial polydactyly of fingers
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294942	"" []	4396676	\N	\N	EFO	6	EFO	bone disease	Postaxial polydactyly of fingers
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294942	"" []	4396677	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly of fingers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294942	"" []	5997820	\N	\N	EFO	8	EFO	disease	Postaxial polydactyly of fingers
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294942	"" []	5414289	\N	\N	EFO	7	EFO	skeletal system disease	Postaxial polydactyly of fingers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294942	"" []	6551118	\N	\N	EFO	9	EFO	disposition	Postaxial polydactyly of fingers
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294942	"" []	6150542	\N	\N	EFO	8	EFO	disease	Postaxial polydactyly of fingers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294942	"" []	6889240	\N	\N	EFO	10	EFO	material property	Postaxial polydactyly of fingers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294942	"" []	7085939	\N	\N	EFO	11	EFO	experimental factor	Postaxial polydactyly of fingers
Orphanet:294944	\N	\N	"" []	Orphanet:294944	"" []	75941	\N	\N	EFO	0	EFO	Congenital deformities of limbs	Congenital deformities of limbs
Orphanet:109011	Orphanet:294944	\N	"" []	Orphanet:294944	"" []	218733	\N	\N	EFO	1	EFO	Non-syndromic limb malformation	Congenital deformities of limbs
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294944	"" []	573912	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Congenital deformities of limbs
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294944	"" []	1156576	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital deformities of limbs
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294944	"" []	2039518	\N	\N	EFO	4	EFO	genetic disorder	Congenital deformities of limbs
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294944	"" []	3189799	\N	\N	EFO	5	EFO	disease	Congenital deformities of limbs
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294944	"" []	4396678	\N	\N	EFO	6	EFO	disposition	Congenital deformities of limbs
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294944	"" []	5414291	\N	\N	EFO	7	EFO	material property	Congenital deformities of limbs
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294944	"" []	6150543	\N	\N	EFO	8	EFO	experimental factor	Congenital deformities of limbs
Orphanet:294947	\N	\N	"" []	Orphanet:294947	"" []	75942	\N	\N	EFO	0	EFO	Congenital deformities of fingers	Congenital deformities of fingers
Orphanet:294944	Orphanet:294947	\N	"" []	Orphanet:294947	"" []	218734	\N	\N	EFO	1	EFO	Congenital deformities of limbs	Congenital deformities of fingers
Orphanet:109011	Orphanet:294944	\N	"" []	Orphanet:294947	"" []	573913	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Congenital deformities of fingers
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294947	"" []	1156577	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Congenital deformities of fingers
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294947	"" []	2039519	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital deformities of fingers
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294947	"" []	3189800	\N	\N	EFO	5	EFO	genetic disorder	Congenital deformities of fingers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294947	"" []	4396679	\N	\N	EFO	6	EFO	disease	Congenital deformities of fingers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294947	"" []	5414292	\N	\N	EFO	7	EFO	disposition	Congenital deformities of fingers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294947	"" []	6150544	\N	\N	EFO	8	EFO	material property	Congenital deformities of fingers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294947	"" []	6633191	\N	\N	EFO	9	EFO	experimental factor	Congenital deformities of fingers
Orphanet:294949	\N	\N	"" []	Orphanet:294949	"" []	75943	\N	\N	EFO	0	EFO	Joint formation defects	Joint formation defects
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:294949	"" []	218735	\N	\N	EFO	1	EFO	Non-syndromic limb malformation	Joint formation defects
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:294949	"" []	218736	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Joint formation defects
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294949	"" []	573914	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Joint formation defects
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294949	"" []	573915	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Joint formation defects
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294949	"" []	1156578	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Joint formation defects
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294949	"" []	1156579	\N	\N	EFO	3	EFO	Rare genetic bone disease	Joint formation defects
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294949	"" []	1156580	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Joint formation defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294949	"" []	3189803	\N	\N	EFO	5	EFO	genetic disorder	Joint formation defects
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294949	"" []	2039521	\N	\N	EFO	4	EFO	genetic disorder	Joint formation defects
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294949	"" []	2039522	\N	\N	EFO	4	EFO	bone disease	Joint formation defects
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294949	"" []	2039523	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Joint formation defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294949	"" []	4133803	\N	\N	EFO	6	EFO	disease	Joint formation defects
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294949	"" []	3189802	\N	\N	EFO	5	EFO	skeletal system disease	Joint formation defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294949	"" []	5182478	\N	\N	EFO	7	EFO	disposition	Joint formation defects
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294949	"" []	4396681	\N	\N	EFO	6	EFO	disease	Joint formation defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294949	"" []	5997821	\N	\N	EFO	8	EFO	material property	Joint formation defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294949	"" []	6551119	\N	\N	EFO	9	EFO	experimental factor	Joint formation defects
Orphanet:294951	\N	\N	"" []	Orphanet:294951	"" []	75944	\N	\N	EFO	0	EFO	Congenital joint dislocations	Congenital joint dislocations
Orphanet:109011	Orphanet:294951	\N	"" []	Orphanet:294951	"" []	218737	\N	\N	EFO	1	EFO	Non-syndromic limb malformation	Congenital joint dislocations
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294951	"" []	573916	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Congenital joint dislocations
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294951	"" []	1156581	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital joint dislocations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294951	"" []	2039524	\N	\N	EFO	4	EFO	genetic disorder	Congenital joint dislocations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294951	"" []	3189804	\N	\N	EFO	5	EFO	disease	Congenital joint dislocations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294951	"" []	4396682	\N	\N	EFO	6	EFO	disposition	Congenital joint dislocations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294951	"" []	5414294	\N	\N	EFO	7	EFO	material property	Congenital joint dislocations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294951	"" []	6150546	\N	\N	EFO	8	EFO	experimental factor	Congenital joint dislocations
Orphanet:294953	\N	\N	"" []	Orphanet:294953	"" []	75945	\N	\N	EFO	0	EFO	Limb overgrowth	Limb overgrowth
Orphanet:109011	Orphanet:294953	\N	"" []	Orphanet:294953	"" []	218738	\N	\N	EFO	1	EFO	Non-syndromic limb malformation	Limb overgrowth
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294953	"" []	573917	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Limb overgrowth
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294953	"" []	1156582	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Limb overgrowth
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294953	"" []	2039525	\N	\N	EFO	4	EFO	genetic disorder	Limb overgrowth
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294953	"" []	3189805	\N	\N	EFO	5	EFO	disease	Limb overgrowth
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294953	"" []	4396683	\N	\N	EFO	6	EFO	disposition	Limb overgrowth
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294953	"" []	5414295	\N	\N	EFO	7	EFO	material property	Limb overgrowth
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294953	"" []	6150547	\N	\N	EFO	8	EFO	experimental factor	Limb overgrowth
Orphanet:294957	\N	\N	"" []	Orphanet:294957	"" []	75946	\N	\N	EFO	0	EFO	Dysostosis with combined reduction defects of upper and lower limbs	Dysostosis with combined reduction defects of upper and lower limbs
Orphanet:404571	Orphanet:294957	\N	"" []	Orphanet:294957	"" []	218739	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Dysostosis with combined reduction defects of upper and lower limbs
Orphanet:404577	Orphanet:294957	\N	"" []	Orphanet:294957	"" []	218740	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Dysostosis with combined reduction defects of upper and lower limbs
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294957	"" []	573918	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Dysostosis with combined reduction defects of upper and lower limbs
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:294957	"" []	573919	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Dysostosis with combined reduction defects of upper and lower limbs
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294957	"" []	1156583	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dysostosis with combined reduction defects of upper and lower limbs
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294957	"" []	1156584	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dysostosis with combined reduction defects of upper and lower limbs
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294957	"" []	1156585	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dysostosis with combined reduction defects of upper and lower limbs
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294957	"" []	2039526	\N	\N	EFO	4	EFO	genetic disorder	Dysostosis with combined reduction defects of upper and lower limbs
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294957	"" []	2039527	\N	\N	EFO	4	EFO	bone disease	Dysostosis with combined reduction defects of upper and lower limbs
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294957	"" []	2039528	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dysostosis with combined reduction defects of upper and lower limbs
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294957	"" []	3189808	\N	\N	EFO	5	EFO	genetic disorder	Dysostosis with combined reduction defects of upper and lower limbs
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294957	"" []	4133804	\N	\N	EFO	6	EFO	disease	Dysostosis with combined reduction defects of upper and lower limbs
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294957	"" []	3189807	\N	\N	EFO	5	EFO	skeletal system disease	Dysostosis with combined reduction defects of upper and lower limbs
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294957	"" []	5182479	\N	\N	EFO	7	EFO	disposition	Dysostosis with combined reduction defects of upper and lower limbs
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294957	"" []	4396685	\N	\N	EFO	6	EFO	disease	Dysostosis with combined reduction defects of upper and lower limbs
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294957	"" []	5997822	\N	\N	EFO	8	EFO	material property	Dysostosis with combined reduction defects of upper and lower limbs
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294957	"" []	6551120	\N	\N	EFO	9	EFO	experimental factor	Dysostosis with combined reduction defects of upper and lower limbs
Orphanet:294959	\N	\N	"" []	Orphanet:294959	"" []	75947	\N	\N	EFO	0	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:294959	"" []	218741	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:294959	"" []	218742	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294959	"" []	573920	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:294959	"" []	573921	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294959	"" []	1156586	\N	\N	EFO	3	EFO	Rare genetic bone disease	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294959	"" []	1156587	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294959	"" []	1156588	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294959	"" []	2039530	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294959	"" []	2039531	\N	\N	EFO	4	EFO	bone disease	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294959	"" []	2039532	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294959	"" []	3189811	\N	\N	EFO	5	EFO	genetic disorder	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294959	"" []	4133805	\N	\N	EFO	6	EFO	disease	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294959	"" []	3189810	\N	\N	EFO	5	EFO	skeletal system disease	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294959	"" []	5182480	\N	\N	EFO	7	EFO	disposition	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294959	"" []	4396687	\N	\N	EFO	6	EFO	disease	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294959	"" []	5997823	\N	\N	EFO	8	EFO	material property	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294959	"" []	6551121	\N	\N	EFO	9	EFO	experimental factor	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Orphanet:294963	\N	\N	"" []	Orphanet:294963	"" []	75948	\N	\N	EFO	0	EFO	Popliteal pterygium syndrome	Popliteal pterygium syndrome
Orphanet:109007	Orphanet:294963	\N	"" []	Orphanet:294963	"" []	218743	\N	\N	EFO	1	EFO	Arthrogryposis syndrome	Popliteal pterygium syndrome
Orphanet:156237	Orphanet:294963	\N	"" []	Orphanet:294963	"" []	218744	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Popliteal pterygium syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:294963	"" []	573922	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Popliteal pterygium syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:294963	"" []	573923	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Popliteal pterygium syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:294963	"" []	1156589	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Popliteal pterygium syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:294963	"" []	1156590	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Popliteal pterygium syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294963	"" []	2039534	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Popliteal pterygium syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:294963	"" []	2039535	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Popliteal pterygium syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294963	"" []	3189812	\N	\N	EFO	5	EFO	genetic disorder	Popliteal pterygium syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294963	"" []	4396688	\N	\N	EFO	6	EFO	disease	Popliteal pterygium syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294963	"" []	5414298	\N	\N	EFO	7	EFO	disposition	Popliteal pterygium syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294963	"" []	6150550	\N	\N	EFO	8	EFO	material property	Popliteal pterygium syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294963	"" []	6633192	\N	\N	EFO	9	EFO	experimental factor	Popliteal pterygium syndrome
Orphanet:294965	\N	\N	"" []	Orphanet:294965	"" []	75949	\N	\N	EFO	0	EFO	Lethal congenital contracture syndrome	Lethal congenital contracture syndrome
Orphanet:109007	Orphanet:294965	\N	"" []	Orphanet:294965	"" []	218745	\N	\N	EFO	1	EFO	Arthrogryposis syndrome	Lethal congenital contracture syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:294965	"" []	573924	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Lethal congenital contracture syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:294965	"" []	1156591	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Lethal congenital contracture syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294965	"" []	2039536	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lethal congenital contracture syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294965	"" []	3189813	\N	\N	EFO	5	EFO	genetic disorder	Lethal congenital contracture syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294965	"" []	4396689	\N	\N	EFO	6	EFO	disease	Lethal congenital contracture syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294965	"" []	5414299	\N	\N	EFO	7	EFO	disposition	Lethal congenital contracture syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294965	"" []	6150551	\N	\N	EFO	8	EFO	material property	Lethal congenital contracture syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294965	"" []	6633193	\N	\N	EFO	9	EFO	experimental factor	Lethal congenital contracture syndrome
Orphanet:294967	\N	\N	"" []	Orphanet:294967	"" []	75950	\N	\N	EFO	0	EFO	Amelia of upper limb	Amelia of upper limb
Orphanet:294925	Orphanet:294967	\N	"" []	Orphanet:294967	"" []	218746	\N	\N	EFO	1	EFO	Amelia	Amelia of upper limb
Orphanet:93457	Orphanet:294925	\N	"" []	Orphanet:294967	"" []	573925	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Amelia of upper limb
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294967	"" []	1156592	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Amelia of upper limb
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294967	"" []	1156593	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Amelia of upper limb
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294967	"" []	2039537	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Amelia of upper limb
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294967	"" []	2039538	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Amelia of upper limb
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294967	"" []	3189814	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Amelia of upper limb
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294967	"" []	3189815	\N	\N	EFO	5	EFO	Rare genetic bone disease	Amelia of upper limb
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294967	"" []	3189816	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Amelia of upper limb
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294967	"" []	5414302	\N	\N	EFO	7	EFO	genetic disorder	Amelia of upper limb
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294967	"" []	4396691	\N	\N	EFO	6	EFO	genetic disorder	Amelia of upper limb
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294967	"" []	4396692	\N	\N	EFO	6	EFO	bone disease	Amelia of upper limb
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294967	"" []	4396693	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Amelia of upper limb
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294967	"" []	5997824	\N	\N	EFO	8	EFO	disease	Amelia of upper limb
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294967	"" []	5414301	\N	\N	EFO	7	EFO	skeletal system disease	Amelia of upper limb
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294967	"" []	6551122	\N	\N	EFO	9	EFO	disposition	Amelia of upper limb
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294967	"" []	6150553	\N	\N	EFO	8	EFO	disease	Amelia of upper limb
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294967	"" []	6889241	\N	\N	EFO	10	EFO	material property	Amelia of upper limb
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294967	"" []	7085940	\N	\N	EFO	11	EFO	experimental factor	Amelia of upper limb
Orphanet:294969	\N	\N	"" []	Orphanet:294969	"" []	75951	\N	\N	EFO	0	EFO	Amelia of lower limb	Amelia of lower limb
Orphanet:294925	Orphanet:294969	\N	"" []	Orphanet:294969	"" []	218747	\N	\N	EFO	1	EFO	Amelia	Amelia of lower limb
Orphanet:93457	Orphanet:294925	\N	"" []	Orphanet:294969	"" []	573926	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Amelia of lower limb
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294969	"" []	1156594	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Amelia of lower limb
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294969	"" []	1156595	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Amelia of lower limb
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294969	"" []	2039539	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Amelia of lower limb
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294969	"" []	2039540	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Amelia of lower limb
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294969	"" []	3189817	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Amelia of lower limb
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294969	"" []	3189818	\N	\N	EFO	5	EFO	Rare genetic bone disease	Amelia of lower limb
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294969	"" []	3189819	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Amelia of lower limb
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294969	"" []	5414305	\N	\N	EFO	7	EFO	genetic disorder	Amelia of lower limb
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294969	"" []	4396695	\N	\N	EFO	6	EFO	genetic disorder	Amelia of lower limb
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294969	"" []	4396696	\N	\N	EFO	6	EFO	bone disease	Amelia of lower limb
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294969	"" []	4396697	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Amelia of lower limb
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294969	"" []	5997825	\N	\N	EFO	8	EFO	disease	Amelia of lower limb
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294969	"" []	5414304	\N	\N	EFO	7	EFO	skeletal system disease	Amelia of lower limb
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294969	"" []	6551123	\N	\N	EFO	9	EFO	disposition	Amelia of lower limb
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294969	"" []	6150555	\N	\N	EFO	8	EFO	disease	Amelia of lower limb
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294969	"" []	6889242	\N	\N	EFO	10	EFO	material property	Amelia of lower limb
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294969	"" []	7085941	\N	\N	EFO	11	EFO	experimental factor	Amelia of lower limb
Orphanet:294971	\N	\N	"" []	Orphanet:294971	"" []	75952	\N	\N	EFO	0	EFO	Tetra-amelia	Tetra-amelia
Orphanet:294925	Orphanet:294971	\N	"" []	Orphanet:294971	"" []	218748	\N	\N	EFO	1	EFO	Amelia	Tetra-amelia
Orphanet:93457	Orphanet:294925	\N	"" []	Orphanet:294971	"" []	573927	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Tetra-amelia
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294971	"" []	1156596	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Tetra-amelia
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294971	"" []	1156597	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Tetra-amelia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294971	"" []	2039541	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Tetra-amelia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294971	"" []	2039542	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Tetra-amelia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294971	"" []	3189820	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Tetra-amelia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294971	"" []	3189821	\N	\N	EFO	5	EFO	Rare genetic bone disease	Tetra-amelia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294971	"" []	3189822	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Tetra-amelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294971	"" []	5414308	\N	\N	EFO	7	EFO	genetic disorder	Tetra-amelia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294971	"" []	4396699	\N	\N	EFO	6	EFO	genetic disorder	Tetra-amelia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294971	"" []	4396700	\N	\N	EFO	6	EFO	bone disease	Tetra-amelia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294971	"" []	4396701	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Tetra-amelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294971	"" []	5997826	\N	\N	EFO	8	EFO	disease	Tetra-amelia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294971	"" []	5414307	\N	\N	EFO	7	EFO	skeletal system disease	Tetra-amelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294971	"" []	6551124	\N	\N	EFO	9	EFO	disposition	Tetra-amelia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294971	"" []	6150557	\N	\N	EFO	8	EFO	disease	Tetra-amelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294971	"" []	6889243	\N	\N	EFO	10	EFO	material property	Tetra-amelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294971	"" []	7085942	\N	\N	EFO	11	EFO	experimental factor	Tetra-amelia
Orphanet:294973	\N	\N	"" []	Orphanet:294973	"" []	75953	\N	\N	EFO	0	EFO	Humeral agenesis/hypoplasia	Humeral agenesis/hypoplasia
Orphanet:93457	Orphanet:294973	\N	"" []	Orphanet:294973	"" []	218749	\N	\N	EFO	1	EFO	Non-syndromic limb reduction defect	Humeral agenesis/hypoplasia
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294973	"" []	573928	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Humeral agenesis/hypoplasia
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294973	"" []	573929	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humeral agenesis/hypoplasia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294973	"" []	1156598	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Humeral agenesis/hypoplasia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294973	"" []	1156599	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Humeral agenesis/hypoplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294973	"" []	2039543	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Humeral agenesis/hypoplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294973	"" []	2039544	\N	\N	EFO	4	EFO	Rare genetic bone disease	Humeral agenesis/hypoplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294973	"" []	2039545	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Humeral agenesis/hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294973	"" []	4396704	\N	\N	EFO	6	EFO	genetic disorder	Humeral agenesis/hypoplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294973	"" []	3189824	\N	\N	EFO	5	EFO	genetic disorder	Humeral agenesis/hypoplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294973	"" []	3189825	\N	\N	EFO	5	EFO	bone disease	Humeral agenesis/hypoplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294973	"" []	3189826	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humeral agenesis/hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294973	"" []	5182481	\N	\N	EFO	7	EFO	disease	Humeral agenesis/hypoplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294973	"" []	4396703	\N	\N	EFO	6	EFO	skeletal system disease	Humeral agenesis/hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294973	"" []	5997827	\N	\N	EFO	8	EFO	disposition	Humeral agenesis/hypoplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294973	"" []	5414310	\N	\N	EFO	7	EFO	disease	Humeral agenesis/hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294973	"" []	6551125	\N	\N	EFO	9	EFO	material property	Humeral agenesis/hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294973	"" []	6889244	\N	\N	EFO	10	EFO	experimental factor	Humeral agenesis/hypoplasia
Orphanet:294975	\N	\N	"" []	Orphanet:294975	"" []	75954	\N	\N	EFO	0	EFO	Congenital absence of upper arm and forearm with hand present	Congenital absence of upper arm and forearm with hand present
Orphanet:294927	Orphanet:294975	\N	"" []	Orphanet:294975	"" []	218750	\N	\N	EFO	1	EFO	Intercalary limb defects	Congenital absence of upper arm and forearm with hand present
Orphanet:93457	Orphanet:294927	\N	"" []	Orphanet:294975	"" []	573930	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Congenital absence of upper arm and forearm with hand present
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294975	"" []	1156600	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Congenital absence of upper arm and forearm with hand present
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294975	"" []	1156601	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence of upper arm and forearm with hand present
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294975	"" []	2039546	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital absence of upper arm and forearm with hand present
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294975	"" []	2039547	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Congenital absence of upper arm and forearm with hand present
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294975	"" []	3189827	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of upper arm and forearm with hand present
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294975	"" []	3189828	\N	\N	EFO	5	EFO	Rare genetic bone disease	Congenital absence of upper arm and forearm with hand present
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294975	"" []	3189829	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Congenital absence of upper arm and forearm with hand present
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294975	"" []	5414313	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence of upper arm and forearm with hand present
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294975	"" []	4396706	\N	\N	EFO	6	EFO	genetic disorder	Congenital absence of upper arm and forearm with hand present
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294975	"" []	4396707	\N	\N	EFO	6	EFO	bone disease	Congenital absence of upper arm and forearm with hand present
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294975	"" []	4396708	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of upper arm and forearm with hand present
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294975	"" []	5997828	\N	\N	EFO	8	EFO	disease	Congenital absence of upper arm and forearm with hand present
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294975	"" []	5414312	\N	\N	EFO	7	EFO	skeletal system disease	Congenital absence of upper arm and forearm with hand present
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294975	"" []	6551126	\N	\N	EFO	9	EFO	disposition	Congenital absence of upper arm and forearm with hand present
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294975	"" []	6150560	\N	\N	EFO	8	EFO	disease	Congenital absence of upper arm and forearm with hand present
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294975	"" []	6889245	\N	\N	EFO	10	EFO	material property	Congenital absence of upper arm and forearm with hand present
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294975	"" []	7085943	\N	\N	EFO	11	EFO	experimental factor	Congenital absence of upper arm and forearm with hand present
Orphanet:294977	\N	\N	"" []	Orphanet:294977	"" []	75955	\N	\N	EFO	0	EFO	Congenital absence of thigh and lower leg with foot present	Congenital absence of thigh and lower leg with foot present
Orphanet:294927	Orphanet:294977	\N	"" []	Orphanet:294977	"" []	218751	\N	\N	EFO	1	EFO	Intercalary limb defects	Congenital absence of thigh and lower leg with foot present
Orphanet:93457	Orphanet:294927	\N	"" []	Orphanet:294977	"" []	573931	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Congenital absence of thigh and lower leg with foot present
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294977	"" []	1156602	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Congenital absence of thigh and lower leg with foot present
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294977	"" []	1156603	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence of thigh and lower leg with foot present
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294977	"" []	2039548	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital absence of thigh and lower leg with foot present
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294977	"" []	2039549	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Congenital absence of thigh and lower leg with foot present
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294977	"" []	3189830	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of thigh and lower leg with foot present
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294977	"" []	3189831	\N	\N	EFO	5	EFO	Rare genetic bone disease	Congenital absence of thigh and lower leg with foot present
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294977	"" []	3189832	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Congenital absence of thigh and lower leg with foot present
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294977	"" []	5414316	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence of thigh and lower leg with foot present
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294977	"" []	4396710	\N	\N	EFO	6	EFO	genetic disorder	Congenital absence of thigh and lower leg with foot present
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294977	"" []	4396711	\N	\N	EFO	6	EFO	bone disease	Congenital absence of thigh and lower leg with foot present
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294977	"" []	4396712	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of thigh and lower leg with foot present
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294977	"" []	5997829	\N	\N	EFO	8	EFO	disease	Congenital absence of thigh and lower leg with foot present
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294977	"" []	5414315	\N	\N	EFO	7	EFO	skeletal system disease	Congenital absence of thigh and lower leg with foot present
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294977	"" []	6551127	\N	\N	EFO	9	EFO	disposition	Congenital absence of thigh and lower leg with foot present
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294977	"" []	6150562	\N	\N	EFO	8	EFO	disease	Congenital absence of thigh and lower leg with foot present
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294977	"" []	6889246	\N	\N	EFO	10	EFO	material property	Congenital absence of thigh and lower leg with foot present
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294977	"" []	7085944	\N	\N	EFO	11	EFO	experimental factor	Congenital absence of thigh and lower leg with foot present
Orphanet:294979	\N	\N	"" []	Orphanet:294979	"" []	75956	\N	\N	EFO	0	EFO	Congenital absence of both forearm and hand	Congenital absence of both forearm and hand
Orphanet:294929	Orphanet:294979	\N	"" []	Orphanet:294979	"" []	218752	\N	\N	EFO	1	EFO	Terminal limb defects	Congenital absence of both forearm and hand
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294979	"" []	573932	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Congenital absence of both forearm and hand
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294979	"" []	1156604	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Congenital absence of both forearm and hand
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294979	"" []	1156605	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence of both forearm and hand
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294979	"" []	2039550	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital absence of both forearm and hand
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294979	"" []	2039551	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Congenital absence of both forearm and hand
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294979	"" []	3189833	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of both forearm and hand
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294979	"" []	3189834	\N	\N	EFO	5	EFO	Rare genetic bone disease	Congenital absence of both forearm and hand
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294979	"" []	3189835	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Congenital absence of both forearm and hand
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294979	"" []	5414319	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence of both forearm and hand
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294979	"" []	4396714	\N	\N	EFO	6	EFO	genetic disorder	Congenital absence of both forearm and hand
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294979	"" []	4396715	\N	\N	EFO	6	EFO	bone disease	Congenital absence of both forearm and hand
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294979	"" []	4396716	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of both forearm and hand
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294979	"" []	5997830	\N	\N	EFO	8	EFO	disease	Congenital absence of both forearm and hand
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294979	"" []	5414318	\N	\N	EFO	7	EFO	skeletal system disease	Congenital absence of both forearm and hand
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294979	"" []	6551128	\N	\N	EFO	9	EFO	disposition	Congenital absence of both forearm and hand
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294979	"" []	6150564	\N	\N	EFO	8	EFO	disease	Congenital absence of both forearm and hand
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294979	"" []	6889247	\N	\N	EFO	10	EFO	material property	Congenital absence of both forearm and hand
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294979	"" []	7085945	\N	\N	EFO	11	EFO	experimental factor	Congenital absence of both forearm and hand
Orphanet:294981	\N	\N	"" []	Orphanet:294981	"" []	75957	\N	\N	EFO	0	EFO	Congenital absence of both lower leg and foot	Congenital absence of both lower leg and foot
Orphanet:294929	Orphanet:294981	\N	"" []	Orphanet:294981	"" []	218753	\N	\N	EFO	1	EFO	Terminal limb defects	Congenital absence of both lower leg and foot
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294981	"" []	573933	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Congenital absence of both lower leg and foot
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294981	"" []	1156606	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Congenital absence of both lower leg and foot
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294981	"" []	1156607	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence of both lower leg and foot
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294981	"" []	2039552	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital absence of both lower leg and foot
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294981	"" []	2039553	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Congenital absence of both lower leg and foot
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294981	"" []	3189836	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of both lower leg and foot
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294981	"" []	3189837	\N	\N	EFO	5	EFO	Rare genetic bone disease	Congenital absence of both lower leg and foot
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294981	"" []	3189838	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Congenital absence of both lower leg and foot
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294981	"" []	5414322	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence of both lower leg and foot
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294981	"" []	4396718	\N	\N	EFO	6	EFO	genetic disorder	Congenital absence of both lower leg and foot
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294981	"" []	4396719	\N	\N	EFO	6	EFO	bone disease	Congenital absence of both lower leg and foot
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294981	"" []	4396720	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of both lower leg and foot
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294981	"" []	5997831	\N	\N	EFO	8	EFO	disease	Congenital absence of both lower leg and foot
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294981	"" []	5414321	\N	\N	EFO	7	EFO	skeletal system disease	Congenital absence of both lower leg and foot
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294981	"" []	6551129	\N	\N	EFO	9	EFO	disposition	Congenital absence of both lower leg and foot
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294981	"" []	6150566	\N	\N	EFO	8	EFO	disease	Congenital absence of both lower leg and foot
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294981	"" []	6889248	\N	\N	EFO	10	EFO	material property	Congenital absence of both lower leg and foot
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294981	"" []	7085946	\N	\N	EFO	11	EFO	experimental factor	Congenital absence of both lower leg and foot
Orphanet:294983	\N	\N	"" []	Orphanet:294983	"" []	75958	\N	\N	EFO	0	EFO	Acheiria	Acheiria
Orphanet:294929	Orphanet:294983	\N	"" []	Orphanet:294983	"" []	218754	\N	\N	EFO	1	EFO	Terminal limb defects	Acheiria
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294983	"" []	573934	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Acheiria
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294983	"" []	1156608	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Acheiria
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294983	"" []	1156609	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acheiria
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294983	"" []	2039554	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Acheiria
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294983	"" []	2039555	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Acheiria
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294983	"" []	3189839	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acheiria
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294983	"" []	3189840	\N	\N	EFO	5	EFO	Rare genetic bone disease	Acheiria
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294983	"" []	3189841	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Acheiria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294983	"" []	5414325	\N	\N	EFO	7	EFO	genetic disorder	Acheiria
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294983	"" []	4396722	\N	\N	EFO	6	EFO	genetic disorder	Acheiria
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294983	"" []	4396723	\N	\N	EFO	6	EFO	bone disease	Acheiria
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294983	"" []	4396724	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acheiria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294983	"" []	5997832	\N	\N	EFO	8	EFO	disease	Acheiria
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294983	"" []	5414324	\N	\N	EFO	7	EFO	skeletal system disease	Acheiria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294983	"" []	6551130	\N	\N	EFO	9	EFO	disposition	Acheiria
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294983	"" []	6150568	\N	\N	EFO	8	EFO	disease	Acheiria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294983	"" []	6889249	\N	\N	EFO	10	EFO	material property	Acheiria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294983	"" []	7085947	\N	\N	EFO	11	EFO	experimental factor	Acheiria
Orphanet:294986	\N	\N	"" []	Orphanet:294986	"" []	75959	\N	\N	EFO	0	EFO	Apodia	Apodia
Orphanet:294929	Orphanet:294986	\N	"" []	Orphanet:294986	"" []	218755	\N	\N	EFO	1	EFO	Terminal limb defects	Apodia
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294986	"" []	573935	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Apodia
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294986	"" []	1156610	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Apodia
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294986	"" []	1156611	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Apodia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294986	"" []	2039556	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Apodia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294986	"" []	2039557	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Apodia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294986	"" []	3189842	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Apodia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294986	"" []	3189843	\N	\N	EFO	5	EFO	Rare genetic bone disease	Apodia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294986	"" []	3189844	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Apodia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294986	"" []	5414328	\N	\N	EFO	7	EFO	genetic disorder	Apodia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294986	"" []	4396726	\N	\N	EFO	6	EFO	genetic disorder	Apodia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294986	"" []	4396727	\N	\N	EFO	6	EFO	bone disease	Apodia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294986	"" []	4396728	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Apodia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294986	"" []	5997833	\N	\N	EFO	8	EFO	disease	Apodia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294986	"" []	5414327	\N	\N	EFO	7	EFO	skeletal system disease	Apodia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294986	"" []	6551131	\N	\N	EFO	9	EFO	disposition	Apodia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294986	"" []	6150570	\N	\N	EFO	8	EFO	disease	Apodia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294986	"" []	6889250	\N	\N	EFO	10	EFO	material property	Apodia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294986	"" []	7085948	\N	\N	EFO	11	EFO	experimental factor	Apodia
Orphanet:294988	\N	\N	"" []	Orphanet:294988	"" []	75960	\N	\N	EFO	0	EFO	Congenital absence/hypoplasia of thumb	Congenital absence/hypoplasia of thumb
Orphanet:294931	Orphanet:294988	\N	"" []	Orphanet:294988	"" []	218756	\N	\N	EFO	1	EFO	Adactyly of hand	Congenital absence/hypoplasia of thumb
Orphanet:294929	Orphanet:294931	\N	"" []	Orphanet:294988	"" []	573936	\N	\N	EFO	2	EFO	Terminal limb defects	Congenital absence/hypoplasia of thumb
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294988	"" []	1156612	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Congenital absence/hypoplasia of thumb
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294988	"" []	2039558	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Congenital absence/hypoplasia of thumb
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294988	"" []	2039559	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence/hypoplasia of thumb
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294988	"" []	3189845	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Congenital absence/hypoplasia of thumb
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294988	"" []	3189846	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Congenital absence/hypoplasia of thumb
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294988	"" []	4396729	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence/hypoplasia of thumb
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294988	"" []	4396730	\N	\N	EFO	6	EFO	Rare genetic bone disease	Congenital absence/hypoplasia of thumb
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294988	"" []	4396731	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Congenital absence/hypoplasia of thumb
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294988	"" []	6150573	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence/hypoplasia of thumb
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294988	"" []	5414330	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence/hypoplasia of thumb
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294988	"" []	5414331	\N	\N	EFO	7	EFO	bone disease	Congenital absence/hypoplasia of thumb
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294988	"" []	5414332	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence/hypoplasia of thumb
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294988	"" []	6551132	\N	\N	EFO	9	EFO	disease	Congenital absence/hypoplasia of thumb
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294988	"" []	6150572	\N	\N	EFO	8	EFO	skeletal system disease	Congenital absence/hypoplasia of thumb
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294988	"" []	6889251	\N	\N	EFO	10	EFO	disposition	Congenital absence/hypoplasia of thumb
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294988	"" []	6633205	\N	\N	EFO	9	EFO	disease	Congenital absence/hypoplasia of thumb
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294988	"" []	7085949	\N	\N	EFO	11	EFO	material property	Congenital absence/hypoplasia of thumb
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294988	"" []	7204347	\N	\N	EFO	12	EFO	experimental factor	Congenital absence/hypoplasia of thumb
Orphanet:294990	\N	\N	"" []	Orphanet:294990	"" []	75961	\N	\N	EFO	0	EFO	Congenital absence/hypoplasia of fingers excluding thumb	Congenital absence/hypoplasia of fingers excluding thumb
Orphanet:294931	Orphanet:294990	\N	"" []	Orphanet:294990	"" []	218757	\N	\N	EFO	1	EFO	Adactyly of hand	Congenital absence/hypoplasia of fingers excluding thumb
Orphanet:294929	Orphanet:294931	\N	"" []	Orphanet:294990	"" []	573937	\N	\N	EFO	2	EFO	Terminal limb defects	Congenital absence/hypoplasia of fingers excluding thumb
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294990	"" []	1156613	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Congenital absence/hypoplasia of fingers excluding thumb
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294990	"" []	2039560	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Congenital absence/hypoplasia of fingers excluding thumb
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294990	"" []	2039561	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence/hypoplasia of fingers excluding thumb
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294990	"" []	3189847	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Congenital absence/hypoplasia of fingers excluding thumb
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294990	"" []	3189848	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Congenital absence/hypoplasia of fingers excluding thumb
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294990	"" []	4396732	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence/hypoplasia of fingers excluding thumb
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294990	"" []	4396733	\N	\N	EFO	6	EFO	Rare genetic bone disease	Congenital absence/hypoplasia of fingers excluding thumb
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294990	"" []	4396734	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Congenital absence/hypoplasia of fingers excluding thumb
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294990	"" []	6150576	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence/hypoplasia of fingers excluding thumb
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294990	"" []	5414334	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence/hypoplasia of fingers excluding thumb
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294990	"" []	5414335	\N	\N	EFO	7	EFO	bone disease	Congenital absence/hypoplasia of fingers excluding thumb
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294990	"" []	5414336	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence/hypoplasia of fingers excluding thumb
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294990	"" []	6551133	\N	\N	EFO	9	EFO	disease	Congenital absence/hypoplasia of fingers excluding thumb
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294990	"" []	6150575	\N	\N	EFO	8	EFO	skeletal system disease	Congenital absence/hypoplasia of fingers excluding thumb
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294990	"" []	6889252	\N	\N	EFO	10	EFO	disposition	Congenital absence/hypoplasia of fingers excluding thumb
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294990	"" []	6633207	\N	\N	EFO	9	EFO	disease	Congenital absence/hypoplasia of fingers excluding thumb
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294990	"" []	7085950	\N	\N	EFO	11	EFO	material property	Congenital absence/hypoplasia of fingers excluding thumb
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294990	"" []	7204348	\N	\N	EFO	12	EFO	experimental factor	Congenital absence/hypoplasia of fingers excluding thumb
Orphanet:294992	\N	\N	"" []	Orphanet:294992	"" []	75962	\N	\N	EFO	0	EFO	Split hand	Split hand
Orphanet:294935	Orphanet:294992	\N	"" []	Orphanet:294992	"" []	218758	\N	\N	EFO	1	EFO	Split hand or/and split foot malformation	Split hand
Orphanet:294929	Orphanet:294935	\N	"" []	Orphanet:294992	"" []	573938	\N	\N	EFO	2	EFO	Terminal limb defects	Split hand
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294992	"" []	1156614	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Split hand
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294992	"" []	2039562	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Split hand
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294992	"" []	2039563	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Split hand
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294992	"" []	3189849	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Split hand
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294992	"" []	3189850	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Split hand
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294992	"" []	4396735	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Split hand
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294992	"" []	4396736	\N	\N	EFO	6	EFO	Rare genetic bone disease	Split hand
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294992	"" []	4396737	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Split hand
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294992	"" []	6150579	\N	\N	EFO	8	EFO	genetic disorder	Split hand
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294992	"" []	5414338	\N	\N	EFO	7	EFO	genetic disorder	Split hand
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294992	"" []	5414339	\N	\N	EFO	7	EFO	bone disease	Split hand
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294992	"" []	5414340	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Split hand
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294992	"" []	6551134	\N	\N	EFO	9	EFO	disease	Split hand
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294992	"" []	6150578	\N	\N	EFO	8	EFO	skeletal system disease	Split hand
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294992	"" []	6889253	\N	\N	EFO	10	EFO	disposition	Split hand
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294992	"" []	6633209	\N	\N	EFO	9	EFO	disease	Split hand
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294992	"" []	7085951	\N	\N	EFO	11	EFO	material property	Split hand
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294992	"" []	7204349	\N	\N	EFO	12	EFO	experimental factor	Split hand
Orphanet:294994	\N	\N	"" []	Orphanet:294994	"" []	75963	\N	\N	EFO	0	EFO	Split foot	Split foot
Orphanet:294935	Orphanet:294994	\N	"" []	Orphanet:294994	"" []	218759	\N	\N	EFO	1	EFO	Split hand or/and split foot malformation	Split foot
Orphanet:294929	Orphanet:294935	\N	"" []	Orphanet:294994	"" []	573939	\N	\N	EFO	2	EFO	Terminal limb defects	Split foot
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294994	"" []	1156615	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Split foot
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294994	"" []	2039564	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Split foot
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294994	"" []	2039565	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Split foot
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294994	"" []	3189851	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Split foot
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294994	"" []	3189852	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Split foot
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294994	"" []	4396738	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Split foot
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294994	"" []	4396739	\N	\N	EFO	6	EFO	Rare genetic bone disease	Split foot
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294994	"" []	4396740	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Split foot
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294994	"" []	6150582	\N	\N	EFO	8	EFO	genetic disorder	Split foot
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294994	"" []	5414342	\N	\N	EFO	7	EFO	genetic disorder	Split foot
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294994	"" []	5414343	\N	\N	EFO	7	EFO	bone disease	Split foot
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294994	"" []	5414344	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Split foot
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294994	"" []	6551135	\N	\N	EFO	9	EFO	disease	Split foot
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294994	"" []	6150581	\N	\N	EFO	8	EFO	skeletal system disease	Split foot
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294994	"" []	6889254	\N	\N	EFO	10	EFO	disposition	Split foot
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294994	"" []	6633211	\N	\N	EFO	9	EFO	disease	Split foot
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294994	"" []	7085952	\N	\N	EFO	11	EFO	material property	Split foot
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294994	"" []	7204350	\N	\N	EFO	12	EFO	experimental factor	Split foot
Orphanet:294996	\N	\N	"" []	Orphanet:294996	"" []	75964	\N	\N	EFO	0	EFO	Brachydactyly of fingers	Brachydactyly of fingers
Orphanet:294937	Orphanet:294996	\N	"" []	Orphanet:294996	"" []	218760	\N	\N	EFO	1	EFO	Brachydactyly	Brachydactyly of fingers
Orphanet:294929	Orphanet:294937	\N	"" []	Orphanet:294996	"" []	573940	\N	\N	EFO	2	EFO	Terminal limb defects	Brachydactyly of fingers
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294996	"" []	1156616	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Brachydactyly of fingers
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294996	"" []	2039566	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Brachydactyly of fingers
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294996	"" []	2039567	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly of fingers
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294996	"" []	3189853	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Brachydactyly of fingers
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294996	"" []	3189854	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Brachydactyly of fingers
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294996	"" []	4396741	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly of fingers
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294996	"" []	4396742	\N	\N	EFO	6	EFO	Rare genetic bone disease	Brachydactyly of fingers
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294996	"" []	4396743	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Brachydactyly of fingers
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294996	"" []	6150585	\N	\N	EFO	8	EFO	genetic disorder	Brachydactyly of fingers
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294996	"" []	5414346	\N	\N	EFO	7	EFO	genetic disorder	Brachydactyly of fingers
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294996	"" []	5414347	\N	\N	EFO	7	EFO	bone disease	Brachydactyly of fingers
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294996	"" []	5414348	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly of fingers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294996	"" []	6551136	\N	\N	EFO	9	EFO	disease	Brachydactyly of fingers
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294996	"" []	6150584	\N	\N	EFO	8	EFO	skeletal system disease	Brachydactyly of fingers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294996	"" []	6889255	\N	\N	EFO	10	EFO	disposition	Brachydactyly of fingers
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294996	"" []	6633213	\N	\N	EFO	9	EFO	disease	Brachydactyly of fingers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294996	"" []	7085953	\N	\N	EFO	11	EFO	material property	Brachydactyly of fingers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294996	"" []	7204351	\N	\N	EFO	12	EFO	experimental factor	Brachydactyly of fingers
Orphanet:294998	\N	\N	"" []	Orphanet:294998	"" []	75965	\N	\N	EFO	0	EFO	Brachydactyly of toes	Brachydactyly of toes
Orphanet:294937	Orphanet:294998	\N	"" []	Orphanet:294998	"" []	218761	\N	\N	EFO	1	EFO	Brachydactyly	Brachydactyly of toes
Orphanet:294929	Orphanet:294937	\N	"" []	Orphanet:294998	"" []	573941	\N	\N	EFO	2	EFO	Terminal limb defects	Brachydactyly of toes
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:294998	"" []	1156617	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Brachydactyly of toes
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:294998	"" []	2039568	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Brachydactyly of toes
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:294998	"" []	2039569	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly of toes
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:294998	"" []	3189855	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Brachydactyly of toes
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:294998	"" []	3189856	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Brachydactyly of toes
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:294998	"" []	4396744	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly of toes
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:294998	"" []	4396745	\N	\N	EFO	6	EFO	Rare genetic bone disease	Brachydactyly of toes
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:294998	"" []	4396746	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Brachydactyly of toes
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294998	"" []	6150588	\N	\N	EFO	8	EFO	genetic disorder	Brachydactyly of toes
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:294998	"" []	5414350	\N	\N	EFO	7	EFO	genetic disorder	Brachydactyly of toes
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:294998	"" []	5414351	\N	\N	EFO	7	EFO	bone disease	Brachydactyly of toes
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:294998	"" []	5414352	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly of toes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294998	"" []	6551137	\N	\N	EFO	9	EFO	disease	Brachydactyly of toes
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:294998	"" []	6150587	\N	\N	EFO	8	EFO	skeletal system disease	Brachydactyly of toes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:294998	"" []	6889256	\N	\N	EFO	10	EFO	disposition	Brachydactyly of toes
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:294998	"" []	6633215	\N	\N	EFO	9	EFO	disease	Brachydactyly of toes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:294998	"" []	7085954	\N	\N	EFO	11	EFO	material property	Brachydactyly of toes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:294998	"" []	7204352	\N	\N	EFO	12	EFO	experimental factor	Brachydactyly of toes
Orphanet:2950	\N	\N	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	75966	\N	\N	EFO	0	EFO	Triphalangeal thumb - polysyndactyly syndrome	Triphalangeal thumb - polysyndactyly syndrome
Orphanet:294959	Orphanet:2950	\N	"" []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	218762	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Triphalangeal thumb - polysyndactyly syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	573942	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Triphalangeal thumb - polysyndactyly syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	573943	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Triphalangeal thumb - polysyndactyly syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	1156618	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Triphalangeal thumb - polysyndactyly syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	1156619	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Triphalangeal thumb - polysyndactyly syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	2039570	\N	\N	EFO	4	EFO	Rare genetic bone disease	Triphalangeal thumb - polysyndactyly syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	2039571	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Triphalangeal thumb - polysyndactyly syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	2039572	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Triphalangeal thumb - polysyndactyly syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	3189857	\N	\N	EFO	5	EFO	genetic disorder	Triphalangeal thumb - polysyndactyly syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	3189858	\N	\N	EFO	5	EFO	bone disease	Triphalangeal thumb - polysyndactyly syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	3189859	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Triphalangeal thumb - polysyndactyly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	4396749	\N	\N	EFO	6	EFO	genetic disorder	Triphalangeal thumb - polysyndactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	5182482	\N	\N	EFO	7	EFO	disease	Triphalangeal thumb - polysyndactyly syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	4396748	\N	\N	EFO	6	EFO	skeletal system disease	Triphalangeal thumb - polysyndactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	5997834	\N	\N	EFO	8	EFO	disposition	Triphalangeal thumb - polysyndactyly syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	5414354	\N	\N	EFO	7	EFO	disease	Triphalangeal thumb - polysyndactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	6551138	\N	\N	EFO	9	EFO	material property	Triphalangeal thumb - polysyndactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2950	"Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." []	6889257	\N	\N	EFO	10	EFO	experimental factor	Triphalangeal thumb - polysyndactyly syndrome
Orphanet:295000	\N	\N	"" []	Orphanet:295000	"" []	75967	\N	\N	EFO	0	EFO	Constriction rings syndrome	Constriction rings syndrome
Orphanet:1034	Orphanet:295000	\N	"" []	Orphanet:295000	"" []	218763	\N	\N	EFO	1	EFO	Amniotic bands	Constriction rings syndrome
Orphanet:294929	Orphanet:1034	\N	"" []	Orphanet:295000	"" []	573944	\N	\N	EFO	2	EFO	Terminal limb defects	Constriction rings syndrome
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295000	"" []	1156620	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Constriction rings syndrome
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295000	"" []	2039573	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Constriction rings syndrome
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295000	"" []	2039574	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Constriction rings syndrome
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295000	"" []	3189861	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Constriction rings syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295000	"" []	3189862	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Constriction rings syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295000	"" []	4396750	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Constriction rings syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295000	"" []	4396751	\N	\N	EFO	6	EFO	Rare genetic bone disease	Constriction rings syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295000	"" []	4396752	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Constriction rings syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295000	"" []	6150592	\N	\N	EFO	8	EFO	genetic disorder	Constriction rings syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295000	"" []	5414356	\N	\N	EFO	7	EFO	genetic disorder	Constriction rings syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295000	"" []	5414357	\N	\N	EFO	7	EFO	bone disease	Constriction rings syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295000	"" []	5414358	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Constriction rings syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295000	"" []	6551139	\N	\N	EFO	9	EFO	disease	Constriction rings syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295000	"" []	6150591	\N	\N	EFO	8	EFO	skeletal system disease	Constriction rings syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295000	"" []	6889258	\N	\N	EFO	10	EFO	disposition	Constriction rings syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295000	"" []	6633218	\N	\N	EFO	9	EFO	disease	Constriction rings syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295000	"" []	7085955	\N	\N	EFO	11	EFO	material property	Constriction rings syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295000	"" []	7204353	\N	\N	EFO	12	EFO	experimental factor	Constriction rings syndrome
Orphanet:295002	\N	\N	"" []	Orphanet:295002	"" []	75968	\N	\N	EFO	0	EFO	Hyperphalangy	Hyperphalangy
Orphanet:93458	Orphanet:295002	\N	"" []	Orphanet:295002	"" []	218764	\N	\N	EFO	1	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Hyperphalangy
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295002	"" []	573945	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Hyperphalangy
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295002	"" []	573946	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Hyperphalangy
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295002	"" []	1156621	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Hyperphalangy
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295002	"" []	1156622	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Hyperphalangy
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295002	"" []	2039575	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hyperphalangy
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295002	"" []	2039576	\N	\N	EFO	4	EFO	Rare genetic bone disease	Hyperphalangy
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295002	"" []	2039577	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Hyperphalangy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295002	"" []	4396755	\N	\N	EFO	6	EFO	genetic disorder	Hyperphalangy
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295002	"" []	3189864	\N	\N	EFO	5	EFO	genetic disorder	Hyperphalangy
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295002	"" []	3189865	\N	\N	EFO	5	EFO	bone disease	Hyperphalangy
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295002	"" []	3189866	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hyperphalangy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295002	"" []	5182483	\N	\N	EFO	7	EFO	disease	Hyperphalangy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295002	"" []	4396754	\N	\N	EFO	6	EFO	skeletal system disease	Hyperphalangy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295002	"" []	5997835	\N	\N	EFO	8	EFO	disposition	Hyperphalangy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295002	"" []	5414360	\N	\N	EFO	7	EFO	disease	Hyperphalangy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295002	"" []	6551140	\N	\N	EFO	9	EFO	material property	Hyperphalangy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295002	"" []	6889259	\N	\N	EFO	10	EFO	experimental factor	Hyperphalangy
Orphanet:295004	\N	\N	"" []	Orphanet:295004	"" []	75969	\N	\N	EFO	0	EFO	Central polydactyly of fingers	Central polydactyly of fingers
Orphanet:2913	Orphanet:295004	\N	"" []	Orphanet:295004	"" []	218765	\N	\N	EFO	1	EFO	Polydactyly	Central polydactyly of fingers
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295004	"" []	573947	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Central polydactyly of fingers
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295004	"" []	1156623	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Central polydactyly of fingers
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295004	"" []	1156624	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Central polydactyly of fingers
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295004	"" []	2039578	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Central polydactyly of fingers
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295004	"" []	2039579	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Central polydactyly of fingers
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295004	"" []	3189867	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Central polydactyly of fingers
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295004	"" []	3189868	\N	\N	EFO	5	EFO	Rare genetic bone disease	Central polydactyly of fingers
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295004	"" []	3189869	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Central polydactyly of fingers
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295004	"" []	5414363	\N	\N	EFO	7	EFO	genetic disorder	Central polydactyly of fingers
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295004	"" []	4396757	\N	\N	EFO	6	EFO	genetic disorder	Central polydactyly of fingers
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295004	"" []	4396758	\N	\N	EFO	6	EFO	bone disease	Central polydactyly of fingers
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295004	"" []	4396759	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Central polydactyly of fingers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295004	"" []	5997836	\N	\N	EFO	8	EFO	disease	Central polydactyly of fingers
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295004	"" []	5414362	\N	\N	EFO	7	EFO	skeletal system disease	Central polydactyly of fingers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295004	"" []	6551141	\N	\N	EFO	9	EFO	disposition	Central polydactyly of fingers
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295004	"" []	6150595	\N	\N	EFO	8	EFO	disease	Central polydactyly of fingers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295004	"" []	6889260	\N	\N	EFO	10	EFO	material property	Central polydactyly of fingers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295004	"" []	7085956	\N	\N	EFO	11	EFO	experimental factor	Central polydactyly of fingers
Orphanet:295006	\N	\N	"" []	Orphanet:295006	"" []	75970	\N	\N	EFO	0	EFO	Preaxial polydactyly of toes	Preaxial polydactyly of toes
Orphanet:2913	Orphanet:295006	\N	"" []	Orphanet:295006	"" []	218766	\N	\N	EFO	1	EFO	Polydactyly	Preaxial polydactyly of toes
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295006	"" []	573948	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Preaxial polydactyly of toes
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295006	"" []	1156625	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Preaxial polydactyly of toes
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295006	"" []	1156626	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Preaxial polydactyly of toes
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295006	"" []	2039580	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Preaxial polydactyly of toes
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295006	"" []	2039581	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Preaxial polydactyly of toes
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295006	"" []	3189870	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Preaxial polydactyly of toes
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295006	"" []	3189871	\N	\N	EFO	5	EFO	Rare genetic bone disease	Preaxial polydactyly of toes
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295006	"" []	3189872	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Preaxial polydactyly of toes
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295006	"" []	5414366	\N	\N	EFO	7	EFO	genetic disorder	Preaxial polydactyly of toes
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295006	"" []	4396761	\N	\N	EFO	6	EFO	genetic disorder	Preaxial polydactyly of toes
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295006	"" []	4396762	\N	\N	EFO	6	EFO	bone disease	Preaxial polydactyly of toes
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295006	"" []	4396763	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Preaxial polydactyly of toes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295006	"" []	5997837	\N	\N	EFO	8	EFO	disease	Preaxial polydactyly of toes
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295006	"" []	5414365	\N	\N	EFO	7	EFO	skeletal system disease	Preaxial polydactyly of toes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295006	"" []	6551142	\N	\N	EFO	9	EFO	disposition	Preaxial polydactyly of toes
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295006	"" []	6150597	\N	\N	EFO	8	EFO	disease	Preaxial polydactyly of toes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295006	"" []	6889261	\N	\N	EFO	10	EFO	material property	Preaxial polydactyly of toes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295006	"" []	7085957	\N	\N	EFO	11	EFO	experimental factor	Preaxial polydactyly of toes
Orphanet:295008	\N	\N	"" []	Orphanet:295008	"" []	75971	\N	\N	EFO	0	EFO	Postaxial polydactyly of toes	Postaxial polydactyly of toes
Orphanet:2913	Orphanet:295008	\N	"" []	Orphanet:295008	"" []	218767	\N	\N	EFO	1	EFO	Polydactyly	Postaxial polydactyly of toes
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295008	"" []	573949	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Postaxial polydactyly of toes
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295008	"" []	1156627	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Postaxial polydactyly of toes
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295008	"" []	1156628	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial polydactyly of toes
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295008	"" []	2039582	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Postaxial polydactyly of toes
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295008	"" []	2039583	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Postaxial polydactyly of toes
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295008	"" []	3189873	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly of toes
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295008	"" []	3189874	\N	\N	EFO	5	EFO	Rare genetic bone disease	Postaxial polydactyly of toes
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295008	"" []	3189875	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Postaxial polydactyly of toes
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295008	"" []	5414369	\N	\N	EFO	7	EFO	genetic disorder	Postaxial polydactyly of toes
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295008	"" []	4396765	\N	\N	EFO	6	EFO	genetic disorder	Postaxial polydactyly of toes
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295008	"" []	4396766	\N	\N	EFO	6	EFO	bone disease	Postaxial polydactyly of toes
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295008	"" []	4396767	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly of toes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295008	"" []	5997838	\N	\N	EFO	8	EFO	disease	Postaxial polydactyly of toes
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295008	"" []	5414368	\N	\N	EFO	7	EFO	skeletal system disease	Postaxial polydactyly of toes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295008	"" []	6551143	\N	\N	EFO	9	EFO	disposition	Postaxial polydactyly of toes
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295008	"" []	6150599	\N	\N	EFO	8	EFO	disease	Postaxial polydactyly of toes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295008	"" []	6889262	\N	\N	EFO	10	EFO	material property	Postaxial polydactyly of toes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295008	"" []	7085958	\N	\N	EFO	11	EFO	experimental factor	Postaxial polydactyly of toes
Orphanet:295010	\N	\N	"" []	Orphanet:295010	"" []	75972	\N	\N	EFO	0	EFO	Central polydactyly of toes	Central polydactyly of toes
Orphanet:2913	Orphanet:295010	\N	"" []	Orphanet:295010	"" []	218768	\N	\N	EFO	1	EFO	Polydactyly	Central polydactyly of toes
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295010	"" []	573950	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Central polydactyly of toes
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295010	"" []	1156629	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Central polydactyly of toes
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295010	"" []	1156630	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Central polydactyly of toes
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295010	"" []	2039584	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Central polydactyly of toes
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295010	"" []	2039585	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Central polydactyly of toes
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295010	"" []	3189876	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Central polydactyly of toes
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295010	"" []	3189877	\N	\N	EFO	5	EFO	Rare genetic bone disease	Central polydactyly of toes
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295010	"" []	3189878	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Central polydactyly of toes
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295010	"" []	5414372	\N	\N	EFO	7	EFO	genetic disorder	Central polydactyly of toes
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295010	"" []	4396769	\N	\N	EFO	6	EFO	genetic disorder	Central polydactyly of toes
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295010	"" []	4396770	\N	\N	EFO	6	EFO	bone disease	Central polydactyly of toes
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295010	"" []	4396771	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Central polydactyly of toes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295010	"" []	5997839	\N	\N	EFO	8	EFO	disease	Central polydactyly of toes
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295010	"" []	5414371	\N	\N	EFO	7	EFO	skeletal system disease	Central polydactyly of toes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295010	"" []	6551144	\N	\N	EFO	9	EFO	disposition	Central polydactyly of toes
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295010	"" []	6150601	\N	\N	EFO	8	EFO	disease	Central polydactyly of toes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295010	"" []	6889263	\N	\N	EFO	10	EFO	material property	Central polydactyly of toes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295010	"" []	7085959	\N	\N	EFO	11	EFO	experimental factor	Central polydactyly of toes
Orphanet:295012	\N	\N	"" []	Orphanet:295012	"" []	75973	\N	\N	EFO	0	EFO	Syndactyly type 6	Syndactyly type 6
Orphanet:90025	Orphanet:295012	\N	"" []	Orphanet:295012	"" []	218769	\N	\N	EFO	1	EFO	Syndactyly	Syndactyly type 6
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:295012	"" []	573951	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Syndactyly type 6
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295012	"" []	1156631	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Syndactyly type 6
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295012	"" []	1156632	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndactyly type 6
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295012	"" []	2039586	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Syndactyly type 6
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295012	"" []	2039587	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Syndactyly type 6
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295012	"" []	3189879	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 6
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295012	"" []	3189880	\N	\N	EFO	5	EFO	Rare genetic bone disease	Syndactyly type 6
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295012	"" []	3189881	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Syndactyly type 6
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295012	"" []	5414375	\N	\N	EFO	7	EFO	genetic disorder	Syndactyly type 6
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295012	"" []	4396773	\N	\N	EFO	6	EFO	genetic disorder	Syndactyly type 6
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295012	"" []	4396774	\N	\N	EFO	6	EFO	bone disease	Syndactyly type 6
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295012	"" []	4396775	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295012	"" []	5997840	\N	\N	EFO	8	EFO	disease	Syndactyly type 6
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295012	"" []	5414374	\N	\N	EFO	7	EFO	skeletal system disease	Syndactyly type 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295012	"" []	6551145	\N	\N	EFO	9	EFO	disposition	Syndactyly type 6
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295012	"" []	6150603	\N	\N	EFO	8	EFO	disease	Syndactyly type 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295012	"" []	6889264	\N	\N	EFO	10	EFO	material property	Syndactyly type 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295012	"" []	7085960	\N	\N	EFO	11	EFO	experimental factor	Syndactyly type 6
Orphanet:295014	\N	\N	"" []	Orphanet:295014	"" []	75974	\N	\N	EFO	0	EFO	Familial isolated clinodactyly of fingers	Familial isolated clinodactyly of fingers
Orphanet:294947	Orphanet:295014	\N	"" []	Orphanet:295014	"" []	218770	\N	\N	EFO	1	EFO	Congenital deformities of fingers	Familial isolated clinodactyly of fingers
Orphanet:294944	Orphanet:294947	\N	"" []	Orphanet:295014	"" []	573952	\N	\N	EFO	2	EFO	Congenital deformities of limbs	Familial isolated clinodactyly of fingers
Orphanet:109011	Orphanet:294944	\N	"" []	Orphanet:295014	"" []	1156633	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Familial isolated clinodactyly of fingers
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295014	"" []	2039588	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Familial isolated clinodactyly of fingers
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295014	"" []	3189882	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Familial isolated clinodactyly of fingers
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295014	"" []	4396776	\N	\N	EFO	6	EFO	genetic disorder	Familial isolated clinodactyly of fingers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295014	"" []	5414376	\N	\N	EFO	7	EFO	disease	Familial isolated clinodactyly of fingers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295014	"" []	6150604	\N	\N	EFO	8	EFO	disposition	Familial isolated clinodactyly of fingers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295014	"" []	6633225	\N	\N	EFO	9	EFO	material property	Familial isolated clinodactyly of fingers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295014	"" []	6925893	\N	\N	EFO	10	EFO	experimental factor	Familial isolated clinodactyly of fingers
Orphanet:295016	\N	\N	"" []	Orphanet:295016	"" []	75975	\N	\N	EFO	0	EFO	Camptodactyly of fingers	Camptodactyly of fingers
Orphanet:294947	Orphanet:295016	\N	"" []	Orphanet:295016	"" []	218771	\N	\N	EFO	1	EFO	Congenital deformities of fingers	Camptodactyly of fingers
Orphanet:294944	Orphanet:294947	\N	"" []	Orphanet:295016	"" []	573953	\N	\N	EFO	2	EFO	Congenital deformities of limbs	Camptodactyly of fingers
Orphanet:109011	Orphanet:294944	\N	"" []	Orphanet:295016	"" []	1156634	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Camptodactyly of fingers
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295016	"" []	2039589	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Camptodactyly of fingers
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295016	"" []	3189883	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Camptodactyly of fingers
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295016	"" []	4396777	\N	\N	EFO	6	EFO	genetic disorder	Camptodactyly of fingers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295016	"" []	5414377	\N	\N	EFO	7	EFO	disease	Camptodactyly of fingers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295016	"" []	6150605	\N	\N	EFO	8	EFO	disposition	Camptodactyly of fingers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295016	"" []	6633226	\N	\N	EFO	9	EFO	material property	Camptodactyly of fingers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295016	"" []	6925894	\N	\N	EFO	10	EFO	experimental factor	Camptodactyly of fingers
Orphanet:295018	\N	\N	"" []	Orphanet:295018	"" []	75976	\N	\N	EFO	0	EFO	Congenital pseudoarthrosis of the tibia	Congenital pseudoarthrosis of the tibia
Orphanet:157808	Orphanet:295018	\N	"" []	Orphanet:295018	"" []	218772	\N	\N	EFO	1	EFO	Congenital pseudoarthrosis of the limbs	Congenital pseudoarthrosis of the tibia
Orphanet:109011	Orphanet:157808	\N	"" []	Orphanet:295018	"" []	573954	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Congenital pseudoarthrosis of the tibia
Orphanet:404571	Orphanet:157808	\N	"" []	Orphanet:295018	"" []	573955	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital pseudoarthrosis of the tibia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295018	"" []	1156635	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Congenital pseudoarthrosis of the tibia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295018	"" []	1156636	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Congenital pseudoarthrosis of the tibia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295018	"" []	2039590	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of the tibia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295018	"" []	2039591	\N	\N	EFO	4	EFO	Rare genetic bone disease	Congenital pseudoarthrosis of the tibia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295018	"" []	2039592	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Congenital pseudoarthrosis of the tibia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295018	"" []	4396780	\N	\N	EFO	6	EFO	genetic disorder	Congenital pseudoarthrosis of the tibia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295018	"" []	3189885	\N	\N	EFO	5	EFO	genetic disorder	Congenital pseudoarthrosis of the tibia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295018	"" []	3189886	\N	\N	EFO	5	EFO	bone disease	Congenital pseudoarthrosis of the tibia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295018	"" []	3189887	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of the tibia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295018	"" []	5182484	\N	\N	EFO	7	EFO	disease	Congenital pseudoarthrosis of the tibia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295018	"" []	4396779	\N	\N	EFO	6	EFO	skeletal system disease	Congenital pseudoarthrosis of the tibia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295018	"" []	5997841	\N	\N	EFO	8	EFO	disposition	Congenital pseudoarthrosis of the tibia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295018	"" []	5414379	\N	\N	EFO	7	EFO	disease	Congenital pseudoarthrosis of the tibia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295018	"" []	6551146	\N	\N	EFO	9	EFO	material property	Congenital pseudoarthrosis of the tibia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295018	"" []	6889265	\N	\N	EFO	10	EFO	experimental factor	Congenital pseudoarthrosis of the tibia
Orphanet:295020	\N	\N	"" []	Orphanet:295020	"" []	75977	\N	\N	EFO	0	EFO	Congenital pseudoarthrosis of the femur	Congenital pseudoarthrosis of the femur
Orphanet:157808	Orphanet:295020	\N	"" []	Orphanet:295020	"" []	218773	\N	\N	EFO	1	EFO	Congenital pseudoarthrosis of the limbs	Congenital pseudoarthrosis of the femur
Orphanet:109011	Orphanet:157808	\N	"" []	Orphanet:295020	"" []	573956	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Congenital pseudoarthrosis of the femur
Orphanet:404571	Orphanet:157808	\N	"" []	Orphanet:295020	"" []	573957	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital pseudoarthrosis of the femur
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295020	"" []	1156637	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Congenital pseudoarthrosis of the femur
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295020	"" []	1156638	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Congenital pseudoarthrosis of the femur
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295020	"" []	2039593	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of the femur
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295020	"" []	2039594	\N	\N	EFO	4	EFO	Rare genetic bone disease	Congenital pseudoarthrosis of the femur
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295020	"" []	2039595	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Congenital pseudoarthrosis of the femur
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295020	"" []	4396783	\N	\N	EFO	6	EFO	genetic disorder	Congenital pseudoarthrosis of the femur
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295020	"" []	3189889	\N	\N	EFO	5	EFO	genetic disorder	Congenital pseudoarthrosis of the femur
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295020	"" []	3189890	\N	\N	EFO	5	EFO	bone disease	Congenital pseudoarthrosis of the femur
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295020	"" []	3189891	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of the femur
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295020	"" []	5182485	\N	\N	EFO	7	EFO	disease	Congenital pseudoarthrosis of the femur
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295020	"" []	4396782	\N	\N	EFO	6	EFO	skeletal system disease	Congenital pseudoarthrosis of the femur
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295020	"" []	5997842	\N	\N	EFO	8	EFO	disposition	Congenital pseudoarthrosis of the femur
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295020	"" []	5414381	\N	\N	EFO	7	EFO	disease	Congenital pseudoarthrosis of the femur
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295020	"" []	6551147	\N	\N	EFO	9	EFO	material property	Congenital pseudoarthrosis of the femur
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295020	"" []	6889266	\N	\N	EFO	10	EFO	experimental factor	Congenital pseudoarthrosis of the femur
Orphanet:295022	\N	\N	"" []	Orphanet:295022	"" []	75978	\N	\N	EFO	0	EFO	Congenital pseudoarthrosis of the fibula	Congenital pseudoarthrosis of the fibula
Orphanet:157808	Orphanet:295022	\N	"" []	Orphanet:295022	"" []	218774	\N	\N	EFO	1	EFO	Congenital pseudoarthrosis of the limbs	Congenital pseudoarthrosis of the fibula
Orphanet:109011	Orphanet:157808	\N	"" []	Orphanet:295022	"" []	573958	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Congenital pseudoarthrosis of the fibula
Orphanet:404571	Orphanet:157808	\N	"" []	Orphanet:295022	"" []	573959	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital pseudoarthrosis of the fibula
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295022	"" []	1156639	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Congenital pseudoarthrosis of the fibula
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295022	"" []	1156640	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Congenital pseudoarthrosis of the fibula
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295022	"" []	2039596	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of the fibula
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295022	"" []	2039597	\N	\N	EFO	4	EFO	Rare genetic bone disease	Congenital pseudoarthrosis of the fibula
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295022	"" []	2039598	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Congenital pseudoarthrosis of the fibula
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295022	"" []	4396786	\N	\N	EFO	6	EFO	genetic disorder	Congenital pseudoarthrosis of the fibula
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295022	"" []	3189893	\N	\N	EFO	5	EFO	genetic disorder	Congenital pseudoarthrosis of the fibula
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295022	"" []	3189894	\N	\N	EFO	5	EFO	bone disease	Congenital pseudoarthrosis of the fibula
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295022	"" []	3189895	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of the fibula
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295022	"" []	5182486	\N	\N	EFO	7	EFO	disease	Congenital pseudoarthrosis of the fibula
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295022	"" []	4396785	\N	\N	EFO	6	EFO	skeletal system disease	Congenital pseudoarthrosis of the fibula
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295022	"" []	5997843	\N	\N	EFO	8	EFO	disposition	Congenital pseudoarthrosis of the fibula
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295022	"" []	5414383	\N	\N	EFO	7	EFO	disease	Congenital pseudoarthrosis of the fibula
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295022	"" []	6551148	\N	\N	EFO	9	EFO	material property	Congenital pseudoarthrosis of the fibula
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295022	"" []	6889267	\N	\N	EFO	10	EFO	experimental factor	Congenital pseudoarthrosis of the fibula
Orphanet:295024	\N	\N	"" []	Orphanet:295024	"" []	75979	\N	\N	EFO	0	EFO	Congenital pseudoarthrosis of the radius	Congenital pseudoarthrosis of the radius
Orphanet:157808	Orphanet:295024	\N	"" []	Orphanet:295024	"" []	218775	\N	\N	EFO	1	EFO	Congenital pseudoarthrosis of the limbs	Congenital pseudoarthrosis of the radius
Orphanet:109011	Orphanet:157808	\N	"" []	Orphanet:295024	"" []	573960	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Congenital pseudoarthrosis of the radius
Orphanet:404571	Orphanet:157808	\N	"" []	Orphanet:295024	"" []	573961	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital pseudoarthrosis of the radius
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295024	"" []	1156641	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Congenital pseudoarthrosis of the radius
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295024	"" []	1156642	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Congenital pseudoarthrosis of the radius
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295024	"" []	2039599	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of the radius
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295024	"" []	2039600	\N	\N	EFO	4	EFO	Rare genetic bone disease	Congenital pseudoarthrosis of the radius
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295024	"" []	2039601	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Congenital pseudoarthrosis of the radius
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295024	"" []	4396789	\N	\N	EFO	6	EFO	genetic disorder	Congenital pseudoarthrosis of the radius
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295024	"" []	3189897	\N	\N	EFO	5	EFO	genetic disorder	Congenital pseudoarthrosis of the radius
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295024	"" []	3189898	\N	\N	EFO	5	EFO	bone disease	Congenital pseudoarthrosis of the radius
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295024	"" []	3189899	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of the radius
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295024	"" []	5182487	\N	\N	EFO	7	EFO	disease	Congenital pseudoarthrosis of the radius
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295024	"" []	4396788	\N	\N	EFO	6	EFO	skeletal system disease	Congenital pseudoarthrosis of the radius
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295024	"" []	5997844	\N	\N	EFO	8	EFO	disposition	Congenital pseudoarthrosis of the radius
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295024	"" []	5414385	\N	\N	EFO	7	EFO	disease	Congenital pseudoarthrosis of the radius
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295024	"" []	6551149	\N	\N	EFO	9	EFO	material property	Congenital pseudoarthrosis of the radius
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295024	"" []	6889268	\N	\N	EFO	10	EFO	experimental factor	Congenital pseudoarthrosis of the radius
Orphanet:295026	\N	\N	"" []	Orphanet:295026	"" []	75980	\N	\N	EFO	0	EFO	Congenital pseudoarthrosis of the ulna	Congenital pseudoarthrosis of the ulna
Orphanet:157808	Orphanet:295026	\N	"" []	Orphanet:295026	"" []	218776	\N	\N	EFO	1	EFO	Congenital pseudoarthrosis of the limbs	Congenital pseudoarthrosis of the ulna
Orphanet:109011	Orphanet:157808	\N	"" []	Orphanet:295026	"" []	573962	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Congenital pseudoarthrosis of the ulna
Orphanet:404571	Orphanet:157808	\N	"" []	Orphanet:295026	"" []	573963	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital pseudoarthrosis of the ulna
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295026	"" []	1156643	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Congenital pseudoarthrosis of the ulna
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295026	"" []	1156644	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Congenital pseudoarthrosis of the ulna
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295026	"" []	2039602	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of the ulna
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295026	"" []	2039603	\N	\N	EFO	4	EFO	Rare genetic bone disease	Congenital pseudoarthrosis of the ulna
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295026	"" []	2039604	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Congenital pseudoarthrosis of the ulna
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295026	"" []	4396792	\N	\N	EFO	6	EFO	genetic disorder	Congenital pseudoarthrosis of the ulna
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295026	"" []	3189901	\N	\N	EFO	5	EFO	genetic disorder	Congenital pseudoarthrosis of the ulna
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295026	"" []	3189902	\N	\N	EFO	5	EFO	bone disease	Congenital pseudoarthrosis of the ulna
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295026	"" []	3189903	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of the ulna
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295026	"" []	5182488	\N	\N	EFO	7	EFO	disease	Congenital pseudoarthrosis of the ulna
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295026	"" []	4396791	\N	\N	EFO	6	EFO	skeletal system disease	Congenital pseudoarthrosis of the ulna
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295026	"" []	5997845	\N	\N	EFO	8	EFO	disposition	Congenital pseudoarthrosis of the ulna
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295026	"" []	5414387	\N	\N	EFO	7	EFO	disease	Congenital pseudoarthrosis of the ulna
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295026	"" []	6551150	\N	\N	EFO	9	EFO	material property	Congenital pseudoarthrosis of the ulna
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295026	"" []	6889269	\N	\N	EFO	10	EFO	experimental factor	Congenital pseudoarthrosis of the ulna
Orphanet:295028	\N	\N	"" []	Orphanet:295028	"" []	75981	\N	\N	EFO	0	EFO	Tibio-fibular synostosis	Tibio-fibular synostosis
Orphanet:294949	Orphanet:295028	\N	"" []	Orphanet:295028	"" []	218777	\N	\N	EFO	1	EFO	Joint formation defects	Tibio-fibular synostosis
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:295028	"" []	573964	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Tibio-fibular synostosis
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:295028	"" []	573965	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Tibio-fibular synostosis
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295028	"" []	1156645	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Tibio-fibular synostosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295028	"" []	1156646	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Tibio-fibular synostosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295028	"" []	2039605	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Tibio-fibular synostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295028	"" []	2039606	\N	\N	EFO	4	EFO	Rare genetic bone disease	Tibio-fibular synostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295028	"" []	2039607	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Tibio-fibular synostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295028	"" []	4396795	\N	\N	EFO	6	EFO	genetic disorder	Tibio-fibular synostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295028	"" []	3189905	\N	\N	EFO	5	EFO	genetic disorder	Tibio-fibular synostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295028	"" []	3189906	\N	\N	EFO	5	EFO	bone disease	Tibio-fibular synostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295028	"" []	3189907	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Tibio-fibular synostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295028	"" []	5182489	\N	\N	EFO	7	EFO	disease	Tibio-fibular synostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295028	"" []	4396794	\N	\N	EFO	6	EFO	skeletal system disease	Tibio-fibular synostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295028	"" []	5997846	\N	\N	EFO	8	EFO	disposition	Tibio-fibular synostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295028	"" []	5414389	\N	\N	EFO	7	EFO	disease	Tibio-fibular synostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295028	"" []	6551151	\N	\N	EFO	9	EFO	material property	Tibio-fibular synostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295028	"" []	6889270	\N	\N	EFO	10	EFO	experimental factor	Tibio-fibular synostosis
Orphanet:295030	\N	\N	"" []	Orphanet:295030	"" []	75982	\N	\N	EFO	0	EFO	Congenital shoulder dislocation	Congenital shoulder dislocation
Orphanet:294951	Orphanet:295030	\N	"" []	Orphanet:295030	"" []	218778	\N	\N	EFO	1	EFO	Congenital joint dislocations	Congenital shoulder dislocation
Orphanet:109011	Orphanet:294951	\N	"" []	Orphanet:295030	"" []	573966	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Congenital shoulder dislocation
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295030	"" []	1156647	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Congenital shoulder dislocation
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295030	"" []	2039608	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital shoulder dislocation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295030	"" []	3189908	\N	\N	EFO	5	EFO	genetic disorder	Congenital shoulder dislocation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295030	"" []	4396796	\N	\N	EFO	6	EFO	disease	Congenital shoulder dislocation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295030	"" []	5414390	\N	\N	EFO	7	EFO	disposition	Congenital shoulder dislocation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295030	"" []	6150612	\N	\N	EFO	8	EFO	material property	Congenital shoulder dislocation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295030	"" []	6633233	\N	\N	EFO	9	EFO	experimental factor	Congenital shoulder dislocation
Orphanet:295032	\N	\N	"" []	Orphanet:295032	"" []	75983	\N	\N	EFO	0	EFO	Congenital elbow dislocation	Congenital elbow dislocation
Orphanet:294951	Orphanet:295032	\N	"" []	Orphanet:295032	"" []	218779	\N	\N	EFO	1	EFO	Congenital joint dislocations	Congenital elbow dislocation
Orphanet:109011	Orphanet:294951	\N	"" []	Orphanet:295032	"" []	573967	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Congenital elbow dislocation
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295032	"" []	1156648	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Congenital elbow dislocation
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295032	"" []	2039609	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital elbow dislocation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295032	"" []	3189909	\N	\N	EFO	5	EFO	genetic disorder	Congenital elbow dislocation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295032	"" []	4396797	\N	\N	EFO	6	EFO	disease	Congenital elbow dislocation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295032	"" []	5414391	\N	\N	EFO	7	EFO	disposition	Congenital elbow dislocation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295032	"" []	6150613	\N	\N	EFO	8	EFO	material property	Congenital elbow dislocation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295032	"" []	6633234	\N	\N	EFO	9	EFO	experimental factor	Congenital elbow dislocation
Orphanet:295034	\N	\N	"" []	Orphanet:295034	"" []	75984	\N	\N	EFO	0	EFO	Congenital knee dislocation	Congenital knee dislocation
Orphanet:294951	Orphanet:295034	\N	"" []	Orphanet:295034	"" []	218780	\N	\N	EFO	1	EFO	Congenital joint dislocations	Congenital knee dislocation
Orphanet:109011	Orphanet:294951	\N	"" []	Orphanet:295034	"" []	573968	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Congenital knee dislocation
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295034	"" []	1156649	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Congenital knee dislocation
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295034	"" []	2039610	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital knee dislocation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295034	"" []	3189910	\N	\N	EFO	5	EFO	genetic disorder	Congenital knee dislocation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295034	"" []	4396798	\N	\N	EFO	6	EFO	disease	Congenital knee dislocation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295034	"" []	5414392	\N	\N	EFO	7	EFO	disposition	Congenital knee dislocation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295034	"" []	6150614	\N	\N	EFO	8	EFO	material property	Congenital knee dislocation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295034	"" []	6633235	\N	\N	EFO	9	EFO	experimental factor	Congenital knee dislocation
Orphanet:295036	\N	\N	"" []	Orphanet:295036	"" []	75985	\N	\N	EFO	0	EFO	Congenital patella dislocation	Congenital patella dislocation
Orphanet:294951	Orphanet:295036	\N	"" []	Orphanet:295036	"" []	218781	\N	\N	EFO	1	EFO	Congenital joint dislocations	Congenital patella dislocation
Orphanet:109011	Orphanet:294951	\N	"" []	Orphanet:295036	"" []	573969	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Congenital patella dislocation
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295036	"" []	1156650	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Congenital patella dislocation
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295036	"" []	2039611	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital patella dislocation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295036	"" []	3189911	\N	\N	EFO	5	EFO	genetic disorder	Congenital patella dislocation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295036	"" []	4396799	\N	\N	EFO	6	EFO	disease	Congenital patella dislocation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295036	"" []	5414393	\N	\N	EFO	7	EFO	disposition	Congenital patella dislocation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295036	"" []	6150615	\N	\N	EFO	8	EFO	material property	Congenital patella dislocation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295036	"" []	6633236	\N	\N	EFO	9	EFO	experimental factor	Congenital patella dislocation
Orphanet:295038	\N	\N	"" []	Orphanet:295038	"" []	75986	\N	\N	EFO	0	EFO	Patella aplasia/hypoplasia, unilateral	Patella aplasia/hypoplasia, unilateral
Orphanet:86789	Orphanet:295038	\N	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	Orphanet:295038	"" []	218782	\N	\N	EFO	1	EFO	Patella aplasia/hypoplasia	Patella aplasia/hypoplasia, unilateral
Orphanet:109011	Orphanet:86789	\N	"" []	Orphanet:295038	"" []	573970	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Patella aplasia/hypoplasia, unilateral
Orphanet:93455	Orphanet:86789	\N	"" []	Orphanet:295038	"" []	573971	\N	\N	EFO	2	EFO	Patellar dysostosis	Patella aplasia/hypoplasia, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295038	"" []	1156651	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Patella aplasia/hypoplasia, unilateral
Orphanet:404568	Orphanet:93455	\N	"" []	Orphanet:295038	"" []	1156652	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Patella aplasia/hypoplasia, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295038	"" []	2039612	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Patella aplasia/hypoplasia, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295038	"" []	2039613	\N	\N	EFO	4	EFO	Rare genetic bone disease	Patella aplasia/hypoplasia, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295038	"" []	2039614	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Patella aplasia/hypoplasia, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295038	"" []	4396802	\N	\N	EFO	6	EFO	genetic disorder	Patella aplasia/hypoplasia, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295038	"" []	3189913	\N	\N	EFO	5	EFO	genetic disorder	Patella aplasia/hypoplasia, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295038	"" []	3189914	\N	\N	EFO	5	EFO	bone disease	Patella aplasia/hypoplasia, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295038	"" []	3189915	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Patella aplasia/hypoplasia, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295038	"" []	5182490	\N	\N	EFO	7	EFO	disease	Patella aplasia/hypoplasia, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295038	"" []	4396801	\N	\N	EFO	6	EFO	skeletal system disease	Patella aplasia/hypoplasia, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295038	"" []	5997847	\N	\N	EFO	8	EFO	disposition	Patella aplasia/hypoplasia, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295038	"" []	5414395	\N	\N	EFO	7	EFO	disease	Patella aplasia/hypoplasia, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295038	"" []	6551152	\N	\N	EFO	9	EFO	material property	Patella aplasia/hypoplasia, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295038	"" []	6889271	\N	\N	EFO	10	EFO	experimental factor	Patella aplasia/hypoplasia, unilateral
Orphanet:295041	\N	\N	"" []	Orphanet:295041	"" []	75987	\N	\N	EFO	0	EFO	Patella aplasia/hypoplasia, bilateral	Patella aplasia/hypoplasia, bilateral
Orphanet:86789	Orphanet:295041	\N	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	Orphanet:295041	"" []	218783	\N	\N	EFO	1	EFO	Patella aplasia/hypoplasia	Patella aplasia/hypoplasia, bilateral
Orphanet:109011	Orphanet:86789	\N	"" []	Orphanet:295041	"" []	573972	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Patella aplasia/hypoplasia, bilateral
Orphanet:93455	Orphanet:86789	\N	"" []	Orphanet:295041	"" []	573973	\N	\N	EFO	2	EFO	Patellar dysostosis	Patella aplasia/hypoplasia, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295041	"" []	1156653	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Patella aplasia/hypoplasia, bilateral
Orphanet:404568	Orphanet:93455	\N	"" []	Orphanet:295041	"" []	1156654	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Patella aplasia/hypoplasia, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295041	"" []	2039615	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Patella aplasia/hypoplasia, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295041	"" []	2039616	\N	\N	EFO	4	EFO	Rare genetic bone disease	Patella aplasia/hypoplasia, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295041	"" []	2039617	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Patella aplasia/hypoplasia, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295041	"" []	4396805	\N	\N	EFO	6	EFO	genetic disorder	Patella aplasia/hypoplasia, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295041	"" []	3189917	\N	\N	EFO	5	EFO	genetic disorder	Patella aplasia/hypoplasia, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295041	"" []	3189918	\N	\N	EFO	5	EFO	bone disease	Patella aplasia/hypoplasia, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295041	"" []	3189919	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Patella aplasia/hypoplasia, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295041	"" []	5182491	\N	\N	EFO	7	EFO	disease	Patella aplasia/hypoplasia, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295041	"" []	4396804	\N	\N	EFO	6	EFO	skeletal system disease	Patella aplasia/hypoplasia, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295041	"" []	5997848	\N	\N	EFO	8	EFO	disposition	Patella aplasia/hypoplasia, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295041	"" []	5414397	\N	\N	EFO	7	EFO	disease	Patella aplasia/hypoplasia, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295041	"" []	6551153	\N	\N	EFO	9	EFO	material property	Patella aplasia/hypoplasia, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295041	"" []	6889272	\N	\N	EFO	10	EFO	experimental factor	Patella aplasia/hypoplasia, bilateral
Orphanet:295044	\N	\N	"" []	Orphanet:295044	"" []	75988	\N	\N	EFO	0	EFO	Macrodactyly of fingers	Macrodactyly of fingers
Orphanet:294953	Orphanet:295044	\N	"" []	Orphanet:295044	"" []	218784	\N	\N	EFO	1	EFO	Limb overgrowth	Macrodactyly of fingers
Orphanet:109011	Orphanet:294953	\N	"" []	Orphanet:295044	"" []	573974	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Macrodactyly of fingers
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295044	"" []	1156655	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Macrodactyly of fingers
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295044	"" []	2039618	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Macrodactyly of fingers
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295044	"" []	3189920	\N	\N	EFO	5	EFO	genetic disorder	Macrodactyly of fingers
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295044	"" []	4396806	\N	\N	EFO	6	EFO	disease	Macrodactyly of fingers
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295044	"" []	5414398	\N	\N	EFO	7	EFO	disposition	Macrodactyly of fingers
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295044	"" []	6150618	\N	\N	EFO	8	EFO	material property	Macrodactyly of fingers
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295044	"" []	6633239	\N	\N	EFO	9	EFO	experimental factor	Macrodactyly of fingers
Orphanet:295047	\N	\N	"" []	Orphanet:295047	"" []	75989	\N	\N	EFO	0	EFO	Macrodactyly of toes	Macrodactyly of toes
Orphanet:294953	Orphanet:295047	\N	"" []	Orphanet:295047	"" []	218785	\N	\N	EFO	1	EFO	Limb overgrowth	Macrodactyly of toes
Orphanet:109011	Orphanet:294953	\N	"" []	Orphanet:295047	"" []	573975	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Macrodactyly of toes
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295047	"" []	1156656	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Macrodactyly of toes
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295047	"" []	2039619	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Macrodactyly of toes
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295047	"" []	3189921	\N	\N	EFO	5	EFO	genetic disorder	Macrodactyly of toes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295047	"" []	4396807	\N	\N	EFO	6	EFO	disease	Macrodactyly of toes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295047	"" []	5414399	\N	\N	EFO	7	EFO	disposition	Macrodactyly of toes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295047	"" []	6150619	\N	\N	EFO	8	EFO	material property	Macrodactyly of toes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295047	"" []	6633240	\N	\N	EFO	9	EFO	experimental factor	Macrodactyly of toes
Orphanet:295049	\N	\N	"" []	Orphanet:295049	"" []	75990	\N	\N	EFO	0	EFO	Upper limb hypertrophy	Upper limb hypertrophy
Orphanet:294953	Orphanet:295049	\N	"" []	Orphanet:295049	"" []	218786	\N	\N	EFO	1	EFO	Limb overgrowth	Upper limb hypertrophy
Orphanet:109011	Orphanet:294953	\N	"" []	Orphanet:295049	"" []	573976	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Upper limb hypertrophy
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295049	"" []	1156657	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Upper limb hypertrophy
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295049	"" []	2039620	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Upper limb hypertrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295049	"" []	3189922	\N	\N	EFO	5	EFO	genetic disorder	Upper limb hypertrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295049	"" []	4396808	\N	\N	EFO	6	EFO	disease	Upper limb hypertrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295049	"" []	5414400	\N	\N	EFO	7	EFO	disposition	Upper limb hypertrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295049	"" []	6150620	\N	\N	EFO	8	EFO	material property	Upper limb hypertrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295049	"" []	6633241	\N	\N	EFO	9	EFO	experimental factor	Upper limb hypertrophy
Orphanet:295051	\N	\N	"" []	Orphanet:295051	"" []	75991	\N	\N	EFO	0	EFO	Lower limb hypertrophy	Lower limb hypertrophy
Orphanet:294953	Orphanet:295051	\N	"" []	Orphanet:295051	"" []	218787	\N	\N	EFO	1	EFO	Limb overgrowth	Lower limb hypertrophy
Orphanet:109011	Orphanet:294953	\N	"" []	Orphanet:295051	"" []	573977	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Lower limb hypertrophy
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295051	"" []	1156658	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Lower limb hypertrophy
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295051	"" []	2039621	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lower limb hypertrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295051	"" []	3189923	\N	\N	EFO	5	EFO	genetic disorder	Lower limb hypertrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295051	"" []	4396809	\N	\N	EFO	6	EFO	disease	Lower limb hypertrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295051	"" []	5414401	\N	\N	EFO	7	EFO	disposition	Lower limb hypertrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295051	"" []	6150621	\N	\N	EFO	8	EFO	material property	Lower limb hypertrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295051	"" []	6633242	\N	\N	EFO	9	EFO	experimental factor	Lower limb hypertrophy
Orphanet:295053	\N	\N	"" []	Orphanet:295053	"" []	75992	\N	\N	EFO	0	EFO	Amelia of upper limb, unilateral	Amelia of upper limb, unilateral
Orphanet:294967	Orphanet:295053	\N	"" []	Orphanet:295053	"" []	218788	\N	\N	EFO	1	EFO	Amelia of upper limb	Amelia of upper limb, unilateral
Orphanet:294925	Orphanet:294967	\N	"" []	Orphanet:295053	"" []	573978	\N	\N	EFO	2	EFO	Amelia	Amelia of upper limb, unilateral
Orphanet:93457	Orphanet:294925	\N	"" []	Orphanet:295053	"" []	1156659	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Amelia of upper limb, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295053	"" []	2039622	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Amelia of upper limb, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295053	"" []	2039623	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Amelia of upper limb, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295053	"" []	3189924	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Amelia of upper limb, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295053	"" []	3189925	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Amelia of upper limb, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295053	"" []	4396810	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Amelia of upper limb, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295053	"" []	4396811	\N	\N	EFO	6	EFO	Rare genetic bone disease	Amelia of upper limb, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295053	"" []	4396812	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Amelia of upper limb, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295053	"" []	6150624	\N	\N	EFO	8	EFO	genetic disorder	Amelia of upper limb, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295053	"" []	5414403	\N	\N	EFO	7	EFO	genetic disorder	Amelia of upper limb, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295053	"" []	5414404	\N	\N	EFO	7	EFO	bone disease	Amelia of upper limb, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295053	"" []	5414405	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Amelia of upper limb, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295053	"" []	6551154	\N	\N	EFO	9	EFO	disease	Amelia of upper limb, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295053	"" []	6150623	\N	\N	EFO	8	EFO	skeletal system disease	Amelia of upper limb, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295053	"" []	6889273	\N	\N	EFO	10	EFO	disposition	Amelia of upper limb, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295053	"" []	6633244	\N	\N	EFO	9	EFO	disease	Amelia of upper limb, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295053	"" []	7085961	\N	\N	EFO	11	EFO	material property	Amelia of upper limb, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295053	"" []	7204354	\N	\N	EFO	12	EFO	experimental factor	Amelia of upper limb, unilateral
Orphanet:295055	\N	\N	"" []	Orphanet:295055	"" []	75993	\N	\N	EFO	0	EFO	Amelia of upper limb, bilateral	Amelia of upper limb, bilateral
Orphanet:294967	Orphanet:295055	\N	"" []	Orphanet:295055	"" []	218789	\N	\N	EFO	1	EFO	Amelia of upper limb	Amelia of upper limb, bilateral
Orphanet:294925	Orphanet:294967	\N	"" []	Orphanet:295055	"" []	573979	\N	\N	EFO	2	EFO	Amelia	Amelia of upper limb, bilateral
Orphanet:93457	Orphanet:294925	\N	"" []	Orphanet:295055	"" []	1156660	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Amelia of upper limb, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295055	"" []	2039624	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Amelia of upper limb, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295055	"" []	2039625	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Amelia of upper limb, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295055	"" []	3189926	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Amelia of upper limb, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295055	"" []	3189927	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Amelia of upper limb, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295055	"" []	4396813	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Amelia of upper limb, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295055	"" []	4396814	\N	\N	EFO	6	EFO	Rare genetic bone disease	Amelia of upper limb, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295055	"" []	4396815	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Amelia of upper limb, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295055	"" []	6150627	\N	\N	EFO	8	EFO	genetic disorder	Amelia of upper limb, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295055	"" []	5414407	\N	\N	EFO	7	EFO	genetic disorder	Amelia of upper limb, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295055	"" []	5414408	\N	\N	EFO	7	EFO	bone disease	Amelia of upper limb, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295055	"" []	5414409	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Amelia of upper limb, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295055	"" []	6551155	\N	\N	EFO	9	EFO	disease	Amelia of upper limb, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295055	"" []	6150626	\N	\N	EFO	8	EFO	skeletal system disease	Amelia of upper limb, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295055	"" []	6889274	\N	\N	EFO	10	EFO	disposition	Amelia of upper limb, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295055	"" []	6633246	\N	\N	EFO	9	EFO	disease	Amelia of upper limb, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295055	"" []	7085962	\N	\N	EFO	11	EFO	material property	Amelia of upper limb, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295055	"" []	7204355	\N	\N	EFO	12	EFO	experimental factor	Amelia of upper limb, bilateral
Orphanet:295057	\N	\N	"" []	Orphanet:295057	"" []	75994	\N	\N	EFO	0	EFO	Amelia of lower limb, unilateral	Amelia of lower limb, unilateral
Orphanet:294969	Orphanet:295057	\N	"" []	Orphanet:295057	"" []	218790	\N	\N	EFO	1	EFO	Amelia of lower limb	Amelia of lower limb, unilateral
Orphanet:294925	Orphanet:294969	\N	"" []	Orphanet:295057	"" []	573980	\N	\N	EFO	2	EFO	Amelia	Amelia of lower limb, unilateral
Orphanet:93457	Orphanet:294925	\N	"" []	Orphanet:295057	"" []	1156661	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Amelia of lower limb, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295057	"" []	2039626	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Amelia of lower limb, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295057	"" []	2039627	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Amelia of lower limb, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295057	"" []	3189928	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Amelia of lower limb, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295057	"" []	3189929	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Amelia of lower limb, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295057	"" []	4396816	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Amelia of lower limb, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295057	"" []	4396817	\N	\N	EFO	6	EFO	Rare genetic bone disease	Amelia of lower limb, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295057	"" []	4396818	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Amelia of lower limb, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295057	"" []	6150630	\N	\N	EFO	8	EFO	genetic disorder	Amelia of lower limb, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295057	"" []	5414411	\N	\N	EFO	7	EFO	genetic disorder	Amelia of lower limb, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295057	"" []	5414412	\N	\N	EFO	7	EFO	bone disease	Amelia of lower limb, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295057	"" []	5414413	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Amelia of lower limb, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295057	"" []	6551156	\N	\N	EFO	9	EFO	disease	Amelia of lower limb, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295057	"" []	6150629	\N	\N	EFO	8	EFO	skeletal system disease	Amelia of lower limb, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295057	"" []	6889275	\N	\N	EFO	10	EFO	disposition	Amelia of lower limb, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295057	"" []	6633248	\N	\N	EFO	9	EFO	disease	Amelia of lower limb, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295057	"" []	7085963	\N	\N	EFO	11	EFO	material property	Amelia of lower limb, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295057	"" []	7204356	\N	\N	EFO	12	EFO	experimental factor	Amelia of lower limb, unilateral
Orphanet:295059	\N	\N	"" []	Orphanet:295059	"" []	75995	\N	\N	EFO	0	EFO	Amelia of lower limb, bilateral	Amelia of lower limb, bilateral
Orphanet:294969	Orphanet:295059	\N	"" []	Orphanet:295059	"" []	218791	\N	\N	EFO	1	EFO	Amelia of lower limb	Amelia of lower limb, bilateral
Orphanet:294925	Orphanet:294969	\N	"" []	Orphanet:295059	"" []	573981	\N	\N	EFO	2	EFO	Amelia	Amelia of lower limb, bilateral
Orphanet:93457	Orphanet:294925	\N	"" []	Orphanet:295059	"" []	1156662	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Amelia of lower limb, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295059	"" []	2039628	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Amelia of lower limb, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295059	"" []	2039629	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Amelia of lower limb, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295059	"" []	3189930	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Amelia of lower limb, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295059	"" []	3189931	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Amelia of lower limb, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295059	"" []	4396819	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Amelia of lower limb, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295059	"" []	4396820	\N	\N	EFO	6	EFO	Rare genetic bone disease	Amelia of lower limb, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295059	"" []	4396821	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Amelia of lower limb, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295059	"" []	6150633	\N	\N	EFO	8	EFO	genetic disorder	Amelia of lower limb, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295059	"" []	5414415	\N	\N	EFO	7	EFO	genetic disorder	Amelia of lower limb, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295059	"" []	5414416	\N	\N	EFO	7	EFO	bone disease	Amelia of lower limb, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295059	"" []	5414417	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Amelia of lower limb, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295059	"" []	6551157	\N	\N	EFO	9	EFO	disease	Amelia of lower limb, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295059	"" []	6150632	\N	\N	EFO	8	EFO	skeletal system disease	Amelia of lower limb, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295059	"" []	6889276	\N	\N	EFO	10	EFO	disposition	Amelia of lower limb, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295059	"" []	6633250	\N	\N	EFO	9	EFO	disease	Amelia of lower limb, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295059	"" []	7085964	\N	\N	EFO	11	EFO	material property	Amelia of lower limb, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295059	"" []	7204357	\N	\N	EFO	12	EFO	experimental factor	Amelia of lower limb, bilateral
Orphanet:295061	\N	\N	"" []	Orphanet:295061	"" []	75996	\N	\N	EFO	0	EFO	Humeral agenesis/hypoplasia, unilateral	Humeral agenesis/hypoplasia, unilateral
Orphanet:294973	Orphanet:295061	\N	"" []	Orphanet:295061	"" []	218792	\N	\N	EFO	1	EFO	Humeral agenesis/hypoplasia	Humeral agenesis/hypoplasia, unilateral
Orphanet:93457	Orphanet:294973	\N	"" []	Orphanet:295061	"" []	573982	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Humeral agenesis/hypoplasia, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295061	"" []	1156663	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Humeral agenesis/hypoplasia, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295061	"" []	1156664	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humeral agenesis/hypoplasia, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295061	"" []	2039630	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Humeral agenesis/hypoplasia, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295061	"" []	2039631	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Humeral agenesis/hypoplasia, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295061	"" []	3189932	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humeral agenesis/hypoplasia, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295061	"" []	3189933	\N	\N	EFO	5	EFO	Rare genetic bone disease	Humeral agenesis/hypoplasia, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295061	"" []	3189934	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Humeral agenesis/hypoplasia, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295061	"" []	5414420	\N	\N	EFO	7	EFO	genetic disorder	Humeral agenesis/hypoplasia, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295061	"" []	4396823	\N	\N	EFO	6	EFO	genetic disorder	Humeral agenesis/hypoplasia, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295061	"" []	4396824	\N	\N	EFO	6	EFO	bone disease	Humeral agenesis/hypoplasia, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295061	"" []	4396825	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Humeral agenesis/hypoplasia, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295061	"" []	5997849	\N	\N	EFO	8	EFO	disease	Humeral agenesis/hypoplasia, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295061	"" []	5414419	\N	\N	EFO	7	EFO	skeletal system disease	Humeral agenesis/hypoplasia, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295061	"" []	6551158	\N	\N	EFO	9	EFO	disposition	Humeral agenesis/hypoplasia, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295061	"" []	6150635	\N	\N	EFO	8	EFO	disease	Humeral agenesis/hypoplasia, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295061	"" []	6889277	\N	\N	EFO	10	EFO	material property	Humeral agenesis/hypoplasia, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295061	"" []	7085965	\N	\N	EFO	11	EFO	experimental factor	Humeral agenesis/hypoplasia, unilateral
Orphanet:295063	\N	\N	"" []	Orphanet:295063	"" []	75997	\N	\N	EFO	0	EFO	Humeral agenesis/hypoplasia, bilateral	Humeral agenesis/hypoplasia, bilateral
Orphanet:294973	Orphanet:295063	\N	"" []	Orphanet:295063	"" []	218793	\N	\N	EFO	1	EFO	Humeral agenesis/hypoplasia	Humeral agenesis/hypoplasia, bilateral
Orphanet:93457	Orphanet:294973	\N	"" []	Orphanet:295063	"" []	573983	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Humeral agenesis/hypoplasia, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295063	"" []	1156665	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Humeral agenesis/hypoplasia, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295063	"" []	1156666	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humeral agenesis/hypoplasia, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295063	"" []	2039632	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Humeral agenesis/hypoplasia, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295063	"" []	2039633	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Humeral agenesis/hypoplasia, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295063	"" []	3189935	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humeral agenesis/hypoplasia, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295063	"" []	3189936	\N	\N	EFO	5	EFO	Rare genetic bone disease	Humeral agenesis/hypoplasia, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295063	"" []	3189937	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Humeral agenesis/hypoplasia, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295063	"" []	5414423	\N	\N	EFO	7	EFO	genetic disorder	Humeral agenesis/hypoplasia, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295063	"" []	4396827	\N	\N	EFO	6	EFO	genetic disorder	Humeral agenesis/hypoplasia, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295063	"" []	4396828	\N	\N	EFO	6	EFO	bone disease	Humeral agenesis/hypoplasia, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295063	"" []	4396829	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Humeral agenesis/hypoplasia, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295063	"" []	5997850	\N	\N	EFO	8	EFO	disease	Humeral agenesis/hypoplasia, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295063	"" []	5414422	\N	\N	EFO	7	EFO	skeletal system disease	Humeral agenesis/hypoplasia, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295063	"" []	6551159	\N	\N	EFO	9	EFO	disposition	Humeral agenesis/hypoplasia, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295063	"" []	6150637	\N	\N	EFO	8	EFO	disease	Humeral agenesis/hypoplasia, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295063	"" []	6889278	\N	\N	EFO	10	EFO	material property	Humeral agenesis/hypoplasia, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295063	"" []	7085966	\N	\N	EFO	11	EFO	experimental factor	Humeral agenesis/hypoplasia, bilateral
Orphanet:295065	\N	\N	"" []	Orphanet:295065	"" []	75998	\N	\N	EFO	0	EFO	Femoral agenesis/hypoplasia, unilateral	Femoral agenesis/hypoplasia, unilateral
Orphanet:1987	Orphanet:295065	\N	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	Orphanet:295065	"" []	218794	\N	\N	EFO	1	EFO	Femoral agenesis/hypoplasia	Femoral agenesis/hypoplasia, unilateral
Orphanet:93457	Orphanet:1987	\N	"" []	Orphanet:295065	"" []	573984	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Femoral agenesis/hypoplasia, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295065	"" []	1156667	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Femoral agenesis/hypoplasia, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295065	"" []	1156668	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Femoral agenesis/hypoplasia, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295065	"" []	2039634	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Femoral agenesis/hypoplasia, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295065	"" []	2039635	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Femoral agenesis/hypoplasia, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295065	"" []	3189938	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Femoral agenesis/hypoplasia, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295065	"" []	3189939	\N	\N	EFO	5	EFO	Rare genetic bone disease	Femoral agenesis/hypoplasia, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295065	"" []	3189940	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Femoral agenesis/hypoplasia, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295065	"" []	5414426	\N	\N	EFO	7	EFO	genetic disorder	Femoral agenesis/hypoplasia, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295065	"" []	4396831	\N	\N	EFO	6	EFO	genetic disorder	Femoral agenesis/hypoplasia, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295065	"" []	4396832	\N	\N	EFO	6	EFO	bone disease	Femoral agenesis/hypoplasia, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295065	"" []	4396833	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Femoral agenesis/hypoplasia, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295065	"" []	5997851	\N	\N	EFO	8	EFO	disease	Femoral agenesis/hypoplasia, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295065	"" []	5414425	\N	\N	EFO	7	EFO	skeletal system disease	Femoral agenesis/hypoplasia, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295065	"" []	6551160	\N	\N	EFO	9	EFO	disposition	Femoral agenesis/hypoplasia, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295065	"" []	6150639	\N	\N	EFO	8	EFO	disease	Femoral agenesis/hypoplasia, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295065	"" []	6889279	\N	\N	EFO	10	EFO	material property	Femoral agenesis/hypoplasia, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295065	"" []	7085967	\N	\N	EFO	11	EFO	experimental factor	Femoral agenesis/hypoplasia, unilateral
Orphanet:295067	\N	\N	"" []	Orphanet:295067	"" []	75999	\N	\N	EFO	0	EFO	Femoral agenesis/hypoplasia, bilateral	Femoral agenesis/hypoplasia, bilateral
Orphanet:1987	Orphanet:295067	\N	"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." []	Orphanet:295067	"" []	218795	\N	\N	EFO	1	EFO	Femoral agenesis/hypoplasia	Femoral agenesis/hypoplasia, bilateral
Orphanet:93457	Orphanet:1987	\N	"" []	Orphanet:295067	"" []	573985	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Femoral agenesis/hypoplasia, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295067	"" []	1156669	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Femoral agenesis/hypoplasia, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295067	"" []	1156670	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Femoral agenesis/hypoplasia, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295067	"" []	2039636	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Femoral agenesis/hypoplasia, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295067	"" []	2039637	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Femoral agenesis/hypoplasia, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295067	"" []	3189941	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Femoral agenesis/hypoplasia, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295067	"" []	3189942	\N	\N	EFO	5	EFO	Rare genetic bone disease	Femoral agenesis/hypoplasia, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295067	"" []	3189943	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Femoral agenesis/hypoplasia, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295067	"" []	5414429	\N	\N	EFO	7	EFO	genetic disorder	Femoral agenesis/hypoplasia, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295067	"" []	4396835	\N	\N	EFO	6	EFO	genetic disorder	Femoral agenesis/hypoplasia, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295067	"" []	4396836	\N	\N	EFO	6	EFO	bone disease	Femoral agenesis/hypoplasia, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295067	"" []	4396837	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Femoral agenesis/hypoplasia, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295067	"" []	5997852	\N	\N	EFO	8	EFO	disease	Femoral agenesis/hypoplasia, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295067	"" []	5414428	\N	\N	EFO	7	EFO	skeletal system disease	Femoral agenesis/hypoplasia, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295067	"" []	6551161	\N	\N	EFO	9	EFO	disposition	Femoral agenesis/hypoplasia, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295067	"" []	6150641	\N	\N	EFO	8	EFO	disease	Femoral agenesis/hypoplasia, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295067	"" []	6889280	\N	\N	EFO	10	EFO	material property	Femoral agenesis/hypoplasia, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295067	"" []	7085968	\N	\N	EFO	11	EFO	experimental factor	Femoral agenesis/hypoplasia, bilateral
Orphanet:295069	\N	\N	"" []	Orphanet:295069	"" []	76000	\N	\N	EFO	0	EFO	Radial hemimelia, unilateral	Radial hemimelia, unilateral
Orphanet:93321	Orphanet:295069	\N	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	Orphanet:295069	"" []	218796	\N	\N	EFO	1	EFO	Radial hemimelia	Radial hemimelia, unilateral
Orphanet:2130	Orphanet:93321	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:295069	"" []	573986	\N	\N	EFO	2	EFO	Hemimelia	Radial hemimelia, unilateral
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:295069	"" []	1156671	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Radial hemimelia, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295069	"" []	2039638	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Radial hemimelia, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295069	"" []	2039639	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Radial hemimelia, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295069	"" []	3189944	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Radial hemimelia, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295069	"" []	3189945	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Radial hemimelia, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295069	"" []	4396838	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Radial hemimelia, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295069	"" []	4396839	\N	\N	EFO	6	EFO	Rare genetic bone disease	Radial hemimelia, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295069	"" []	4396840	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Radial hemimelia, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295069	"" []	6150644	\N	\N	EFO	8	EFO	genetic disorder	Radial hemimelia, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295069	"" []	5414431	\N	\N	EFO	7	EFO	genetic disorder	Radial hemimelia, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295069	"" []	5414432	\N	\N	EFO	7	EFO	bone disease	Radial hemimelia, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295069	"" []	5414433	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Radial hemimelia, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295069	"" []	6551162	\N	\N	EFO	9	EFO	disease	Radial hemimelia, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295069	"" []	6150643	\N	\N	EFO	8	EFO	skeletal system disease	Radial hemimelia, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295069	"" []	6889281	\N	\N	EFO	10	EFO	disposition	Radial hemimelia, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295069	"" []	6633256	\N	\N	EFO	9	EFO	disease	Radial hemimelia, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295069	"" []	7085969	\N	\N	EFO	11	EFO	material property	Radial hemimelia, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295069	"" []	7204358	\N	\N	EFO	12	EFO	experimental factor	Radial hemimelia, unilateral
Orphanet:295071	\N	\N	"" []	Orphanet:295071	"" []	76001	\N	\N	EFO	0	EFO	Radial hemimelia, bilateral	Radial hemimelia, bilateral
Orphanet:93321	Orphanet:295071	\N	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	Orphanet:295071	"" []	218797	\N	\N	EFO	1	EFO	Radial hemimelia	Radial hemimelia, bilateral
Orphanet:2130	Orphanet:93321	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:295071	"" []	573987	\N	\N	EFO	2	EFO	Hemimelia	Radial hemimelia, bilateral
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:295071	"" []	1156672	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Radial hemimelia, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295071	"" []	2039640	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Radial hemimelia, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295071	"" []	2039641	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Radial hemimelia, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295071	"" []	3189946	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Radial hemimelia, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295071	"" []	3189947	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Radial hemimelia, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295071	"" []	4396841	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Radial hemimelia, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295071	"" []	4396842	\N	\N	EFO	6	EFO	Rare genetic bone disease	Radial hemimelia, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295071	"" []	4396843	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Radial hemimelia, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295071	"" []	6150647	\N	\N	EFO	8	EFO	genetic disorder	Radial hemimelia, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295071	"" []	5414435	\N	\N	EFO	7	EFO	genetic disorder	Radial hemimelia, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295071	"" []	5414436	\N	\N	EFO	7	EFO	bone disease	Radial hemimelia, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295071	"" []	5414437	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Radial hemimelia, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295071	"" []	6551163	\N	\N	EFO	9	EFO	disease	Radial hemimelia, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295071	"" []	6150646	\N	\N	EFO	8	EFO	skeletal system disease	Radial hemimelia, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295071	"" []	6889282	\N	\N	EFO	10	EFO	disposition	Radial hemimelia, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295071	"" []	6633258	\N	\N	EFO	9	EFO	disease	Radial hemimelia, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295071	"" []	7085970	\N	\N	EFO	11	EFO	material property	Radial hemimelia, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295071	"" []	7204359	\N	\N	EFO	12	EFO	experimental factor	Radial hemimelia, bilateral
Orphanet:295073	\N	\N	"" []	Orphanet:295073	"" []	76002	\N	\N	EFO	0	EFO	Ulnar hemimelia, bilateral	Ulnar hemimelia, bilateral
Orphanet:93320	Orphanet:295073	\N	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	Orphanet:295073	"" []	218798	\N	\N	EFO	1	EFO	Ulnar hemimelia	Ulnar hemimelia, bilateral
Orphanet:2130	Orphanet:93320	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:295073	"" []	573988	\N	\N	EFO	2	EFO	Hemimelia	Ulnar hemimelia, bilateral
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:295073	"" []	1156673	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Ulnar hemimelia, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295073	"" []	2039642	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Ulnar hemimelia, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295073	"" []	2039643	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Ulnar hemimelia, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295073	"" []	3189948	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Ulnar hemimelia, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295073	"" []	3189949	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Ulnar hemimelia, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295073	"" []	4396844	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Ulnar hemimelia, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295073	"" []	4396845	\N	\N	EFO	6	EFO	Rare genetic bone disease	Ulnar hemimelia, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295073	"" []	4396846	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Ulnar hemimelia, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295073	"" []	6150650	\N	\N	EFO	8	EFO	genetic disorder	Ulnar hemimelia, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295073	"" []	5414439	\N	\N	EFO	7	EFO	genetic disorder	Ulnar hemimelia, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295073	"" []	5414440	\N	\N	EFO	7	EFO	bone disease	Ulnar hemimelia, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295073	"" []	5414441	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Ulnar hemimelia, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295073	"" []	6551164	\N	\N	EFO	9	EFO	disease	Ulnar hemimelia, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295073	"" []	6150649	\N	\N	EFO	8	EFO	skeletal system disease	Ulnar hemimelia, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295073	"" []	6889283	\N	\N	EFO	10	EFO	disposition	Ulnar hemimelia, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295073	"" []	6633260	\N	\N	EFO	9	EFO	disease	Ulnar hemimelia, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295073	"" []	7085971	\N	\N	EFO	11	EFO	material property	Ulnar hemimelia, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295073	"" []	7204360	\N	\N	EFO	12	EFO	experimental factor	Ulnar hemimelia, bilateral
Orphanet:295075	\N	\N	"" []	Orphanet:295075	"" []	76003	\N	\N	EFO	0	EFO	Ulnar hemimelia, unilateral	Ulnar hemimelia, unilateral
Orphanet:93320	Orphanet:295075	\N	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	Orphanet:295075	"" []	218799	\N	\N	EFO	1	EFO	Ulnar hemimelia	Ulnar hemimelia, unilateral
Orphanet:2130	Orphanet:93320	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:295075	"" []	573989	\N	\N	EFO	2	EFO	Hemimelia	Ulnar hemimelia, unilateral
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:295075	"" []	1156674	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Ulnar hemimelia, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295075	"" []	2039644	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Ulnar hemimelia, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295075	"" []	2039645	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Ulnar hemimelia, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295075	"" []	3189950	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Ulnar hemimelia, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295075	"" []	3189951	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Ulnar hemimelia, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295075	"" []	4396847	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Ulnar hemimelia, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295075	"" []	4396848	\N	\N	EFO	6	EFO	Rare genetic bone disease	Ulnar hemimelia, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295075	"" []	4396849	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Ulnar hemimelia, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295075	"" []	6150653	\N	\N	EFO	8	EFO	genetic disorder	Ulnar hemimelia, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295075	"" []	5414443	\N	\N	EFO	7	EFO	genetic disorder	Ulnar hemimelia, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295075	"" []	5414444	\N	\N	EFO	7	EFO	bone disease	Ulnar hemimelia, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295075	"" []	5414445	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Ulnar hemimelia, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295075	"" []	6551165	\N	\N	EFO	9	EFO	disease	Ulnar hemimelia, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295075	"" []	6150652	\N	\N	EFO	8	EFO	skeletal system disease	Ulnar hemimelia, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295075	"" []	6889284	\N	\N	EFO	10	EFO	disposition	Ulnar hemimelia, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295075	"" []	6633262	\N	\N	EFO	9	EFO	disease	Ulnar hemimelia, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295075	"" []	7085972	\N	\N	EFO	11	EFO	material property	Ulnar hemimelia, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295075	"" []	7204361	\N	\N	EFO	12	EFO	experimental factor	Ulnar hemimelia, unilateral
Orphanet:295077	\N	\N	"" []	Orphanet:295077	"" []	76004	\N	\N	EFO	0	EFO	Tibial hemimelia, unilateral	Tibial hemimelia, unilateral
Orphanet:93322	Orphanet:295077	\N	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	Orphanet:295077	"" []	218800	\N	\N	EFO	1	EFO	Tibial hemimelia	Tibial hemimelia, unilateral
Orphanet:2130	Orphanet:93322	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:295077	"" []	573990	\N	\N	EFO	2	EFO	Hemimelia	Tibial hemimelia, unilateral
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:295077	"" []	1156675	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Tibial hemimelia, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295077	"" []	2039646	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Tibial hemimelia, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295077	"" []	2039647	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Tibial hemimelia, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295077	"" []	3189952	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Tibial hemimelia, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295077	"" []	3189953	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Tibial hemimelia, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295077	"" []	4396850	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Tibial hemimelia, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295077	"" []	4396851	\N	\N	EFO	6	EFO	Rare genetic bone disease	Tibial hemimelia, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295077	"" []	4396852	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Tibial hemimelia, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295077	"" []	6150656	\N	\N	EFO	8	EFO	genetic disorder	Tibial hemimelia, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295077	"" []	5414447	\N	\N	EFO	7	EFO	genetic disorder	Tibial hemimelia, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295077	"" []	5414448	\N	\N	EFO	7	EFO	bone disease	Tibial hemimelia, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295077	"" []	5414449	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Tibial hemimelia, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295077	"" []	6551166	\N	\N	EFO	9	EFO	disease	Tibial hemimelia, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295077	"" []	6150655	\N	\N	EFO	8	EFO	skeletal system disease	Tibial hemimelia, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295077	"" []	6889285	\N	\N	EFO	10	EFO	disposition	Tibial hemimelia, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295077	"" []	6633264	\N	\N	EFO	9	EFO	disease	Tibial hemimelia, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295077	"" []	7085973	\N	\N	EFO	11	EFO	material property	Tibial hemimelia, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295077	"" []	7204362	\N	\N	EFO	12	EFO	experimental factor	Tibial hemimelia, unilateral
Orphanet:295079	\N	\N	"" []	Orphanet:295079	"" []	76005	\N	\N	EFO	0	EFO	Tibial hemimelia, bilateral	Tibial hemimelia, bilateral
Orphanet:93322	Orphanet:295079	\N	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	Orphanet:295079	"" []	218801	\N	\N	EFO	1	EFO	Tibial hemimelia	Tibial hemimelia, bilateral
Orphanet:2130	Orphanet:93322	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:295079	"" []	573991	\N	\N	EFO	2	EFO	Hemimelia	Tibial hemimelia, bilateral
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:295079	"" []	1156676	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Tibial hemimelia, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295079	"" []	2039648	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Tibial hemimelia, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295079	"" []	2039649	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Tibial hemimelia, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295079	"" []	3189954	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Tibial hemimelia, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295079	"" []	3189955	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Tibial hemimelia, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295079	"" []	4396853	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Tibial hemimelia, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295079	"" []	4396854	\N	\N	EFO	6	EFO	Rare genetic bone disease	Tibial hemimelia, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295079	"" []	4396855	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Tibial hemimelia, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295079	"" []	6150659	\N	\N	EFO	8	EFO	genetic disorder	Tibial hemimelia, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295079	"" []	5414451	\N	\N	EFO	7	EFO	genetic disorder	Tibial hemimelia, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295079	"" []	5414452	\N	\N	EFO	7	EFO	bone disease	Tibial hemimelia, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295079	"" []	5414453	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Tibial hemimelia, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295079	"" []	6551167	\N	\N	EFO	9	EFO	disease	Tibial hemimelia, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295079	"" []	6150658	\N	\N	EFO	8	EFO	skeletal system disease	Tibial hemimelia, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295079	"" []	6889286	\N	\N	EFO	10	EFO	disposition	Tibial hemimelia, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295079	"" []	6633266	\N	\N	EFO	9	EFO	disease	Tibial hemimelia, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295079	"" []	7085974	\N	\N	EFO	11	EFO	material property	Tibial hemimelia, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295079	"" []	7204363	\N	\N	EFO	12	EFO	experimental factor	Tibial hemimelia, bilateral
Orphanet:295081	\N	\N	"" []	Orphanet:295081	"" []	76006	\N	\N	EFO	0	EFO	Fibular hemimelia, unilateral	Fibular hemimelia, unilateral
Orphanet:93323	Orphanet:295081	\N	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	Orphanet:295081	"" []	218802	\N	\N	EFO	1	EFO	Fibular hemimelia	Fibular hemimelia, unilateral
Orphanet:2130	Orphanet:93323	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:295081	"" []	573992	\N	\N	EFO	2	EFO	Hemimelia	Fibular hemimelia, unilateral
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:295081	"" []	1156677	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Fibular hemimelia, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295081	"" []	2039650	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Fibular hemimelia, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295081	"" []	2039651	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Fibular hemimelia, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295081	"" []	3189956	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Fibular hemimelia, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295081	"" []	3189957	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Fibular hemimelia, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295081	"" []	4396856	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Fibular hemimelia, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295081	"" []	4396857	\N	\N	EFO	6	EFO	Rare genetic bone disease	Fibular hemimelia, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295081	"" []	4396858	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Fibular hemimelia, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295081	"" []	6150662	\N	\N	EFO	8	EFO	genetic disorder	Fibular hemimelia, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295081	"" []	5414455	\N	\N	EFO	7	EFO	genetic disorder	Fibular hemimelia, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295081	"" []	5414456	\N	\N	EFO	7	EFO	bone disease	Fibular hemimelia, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295081	"" []	5414457	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Fibular hemimelia, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295081	"" []	6551168	\N	\N	EFO	9	EFO	disease	Fibular hemimelia, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295081	"" []	6150661	\N	\N	EFO	8	EFO	skeletal system disease	Fibular hemimelia, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295081	"" []	6889287	\N	\N	EFO	10	EFO	disposition	Fibular hemimelia, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295081	"" []	6633268	\N	\N	EFO	9	EFO	disease	Fibular hemimelia, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295081	"" []	7085975	\N	\N	EFO	11	EFO	material property	Fibular hemimelia, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295081	"" []	7204364	\N	\N	EFO	12	EFO	experimental factor	Fibular hemimelia, unilateral
Orphanet:295083	\N	\N	"" []	Orphanet:295083	"" []	76007	\N	\N	EFO	0	EFO	Fibular hemimelia, bilateral	Fibular hemimelia, bilateral
Orphanet:93323	Orphanet:295083	\N	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	Orphanet:295083	"" []	218803	\N	\N	EFO	1	EFO	Fibular hemimelia	Fibular hemimelia, bilateral
Orphanet:2130	Orphanet:93323	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:295083	"" []	573993	\N	\N	EFO	2	EFO	Hemimelia	Fibular hemimelia, bilateral
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:295083	"" []	1156678	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Fibular hemimelia, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295083	"" []	2039652	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Fibular hemimelia, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295083	"" []	2039653	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Fibular hemimelia, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295083	"" []	3189958	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Fibular hemimelia, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295083	"" []	3189959	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Fibular hemimelia, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295083	"" []	4396859	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Fibular hemimelia, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295083	"" []	4396860	\N	\N	EFO	6	EFO	Rare genetic bone disease	Fibular hemimelia, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295083	"" []	4396861	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Fibular hemimelia, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295083	"" []	6150665	\N	\N	EFO	8	EFO	genetic disorder	Fibular hemimelia, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295083	"" []	5414459	\N	\N	EFO	7	EFO	genetic disorder	Fibular hemimelia, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295083	"" []	5414460	\N	\N	EFO	7	EFO	bone disease	Fibular hemimelia, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295083	"" []	5414461	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Fibular hemimelia, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295083	"" []	6551169	\N	\N	EFO	9	EFO	disease	Fibular hemimelia, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295083	"" []	6150664	\N	\N	EFO	8	EFO	skeletal system disease	Fibular hemimelia, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295083	"" []	6889288	\N	\N	EFO	10	EFO	disposition	Fibular hemimelia, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295083	"" []	6633270	\N	\N	EFO	9	EFO	disease	Fibular hemimelia, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295083	"" []	7085976	\N	\N	EFO	11	EFO	material property	Fibular hemimelia, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295083	"" []	7204365	\N	\N	EFO	12	EFO	experimental factor	Fibular hemimelia, bilateral
Orphanet:295085	\N	\N	"" []	Orphanet:295085	"" []	76008	\N	\N	EFO	0	EFO	Congenital absence of upper arm and forearm with hand present, unilateral	Congenital absence of upper arm and forearm with hand present, unilateral
Orphanet:294975	Orphanet:295085	\N	"" []	Orphanet:295085	"" []	218804	\N	\N	EFO	1	EFO	Congenital absence of upper arm and forearm with hand present	Congenital absence of upper arm and forearm with hand present, unilateral
Orphanet:294927	Orphanet:294975	\N	"" []	Orphanet:295085	"" []	573994	\N	\N	EFO	2	EFO	Intercalary limb defects	Congenital absence of upper arm and forearm with hand present, unilateral
Orphanet:93457	Orphanet:294927	\N	"" []	Orphanet:295085	"" []	1156679	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Congenital absence of upper arm and forearm with hand present, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295085	"" []	2039654	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Congenital absence of upper arm and forearm with hand present, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295085	"" []	2039655	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence of upper arm and forearm with hand present, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295085	"" []	3189960	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Congenital absence of upper arm and forearm with hand present, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295085	"" []	3189961	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Congenital absence of upper arm and forearm with hand present, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295085	"" []	4396862	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of upper arm and forearm with hand present, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295085	"" []	4396863	\N	\N	EFO	6	EFO	Rare genetic bone disease	Congenital absence of upper arm and forearm with hand present, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295085	"" []	4396864	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Congenital absence of upper arm and forearm with hand present, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295085	"" []	6150668	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence of upper arm and forearm with hand present, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295085	"" []	5414463	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence of upper arm and forearm with hand present, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295085	"" []	5414464	\N	\N	EFO	7	EFO	bone disease	Congenital absence of upper arm and forearm with hand present, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295085	"" []	5414465	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of upper arm and forearm with hand present, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295085	"" []	6551170	\N	\N	EFO	9	EFO	disease	Congenital absence of upper arm and forearm with hand present, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295085	"" []	6150667	\N	\N	EFO	8	EFO	skeletal system disease	Congenital absence of upper arm and forearm with hand present, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295085	"" []	6889289	\N	\N	EFO	10	EFO	disposition	Congenital absence of upper arm and forearm with hand present, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295085	"" []	6633272	\N	\N	EFO	9	EFO	disease	Congenital absence of upper arm and forearm with hand present, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295085	"" []	7085977	\N	\N	EFO	11	EFO	material property	Congenital absence of upper arm and forearm with hand present, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295085	"" []	7204366	\N	\N	EFO	12	EFO	experimental factor	Congenital absence of upper arm and forearm with hand present, unilateral
Orphanet:295087	\N	\N	"" []	Orphanet:295087	"" []	76009	\N	\N	EFO	0	EFO	Congenital absence of upper arm and forearm with hand present, bilateral	Congenital absence of upper arm and forearm with hand present, bilateral
Orphanet:294975	Orphanet:295087	\N	"" []	Orphanet:295087	"" []	218805	\N	\N	EFO	1	EFO	Congenital absence of upper arm and forearm with hand present	Congenital absence of upper arm and forearm with hand present, bilateral
Orphanet:294927	Orphanet:294975	\N	"" []	Orphanet:295087	"" []	573995	\N	\N	EFO	2	EFO	Intercalary limb defects	Congenital absence of upper arm and forearm with hand present, bilateral
Orphanet:93457	Orphanet:294927	\N	"" []	Orphanet:295087	"" []	1156680	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Congenital absence of upper arm and forearm with hand present, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295087	"" []	2039656	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Congenital absence of upper arm and forearm with hand present, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295087	"" []	2039657	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence of upper arm and forearm with hand present, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295087	"" []	3189962	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Congenital absence of upper arm and forearm with hand present, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295087	"" []	3189963	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Congenital absence of upper arm and forearm with hand present, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295087	"" []	4396865	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of upper arm and forearm with hand present, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295087	"" []	4396866	\N	\N	EFO	6	EFO	Rare genetic bone disease	Congenital absence of upper arm and forearm with hand present, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295087	"" []	4396867	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Congenital absence of upper arm and forearm with hand present, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295087	"" []	6150671	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence of upper arm and forearm with hand present, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295087	"" []	5414467	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence of upper arm and forearm with hand present, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295087	"" []	5414468	\N	\N	EFO	7	EFO	bone disease	Congenital absence of upper arm and forearm with hand present, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295087	"" []	5414469	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of upper arm and forearm with hand present, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295087	"" []	6551171	\N	\N	EFO	9	EFO	disease	Congenital absence of upper arm and forearm with hand present, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295087	"" []	6150670	\N	\N	EFO	8	EFO	skeletal system disease	Congenital absence of upper arm and forearm with hand present, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295087	"" []	6889290	\N	\N	EFO	10	EFO	disposition	Congenital absence of upper arm and forearm with hand present, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295087	"" []	6633274	\N	\N	EFO	9	EFO	disease	Congenital absence of upper arm and forearm with hand present, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295087	"" []	7085978	\N	\N	EFO	11	EFO	material property	Congenital absence of upper arm and forearm with hand present, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295087	"" []	7204367	\N	\N	EFO	12	EFO	experimental factor	Congenital absence of upper arm and forearm with hand present, bilateral
Orphanet:295089	\N	\N	"" []	Orphanet:295089	"" []	76010	\N	\N	EFO	0	EFO	Congenital absence of thigh and lower leg with foot present, unilateral	Congenital absence of thigh and lower leg with foot present, unilateral
Orphanet:294977	Orphanet:295089	\N	"" []	Orphanet:295089	"" []	218806	\N	\N	EFO	1	EFO	Congenital absence of thigh and lower leg with foot present	Congenital absence of thigh and lower leg with foot present, unilateral
Orphanet:294927	Orphanet:294977	\N	"" []	Orphanet:295089	"" []	573996	\N	\N	EFO	2	EFO	Intercalary limb defects	Congenital absence of thigh and lower leg with foot present, unilateral
Orphanet:93457	Orphanet:294927	\N	"" []	Orphanet:295089	"" []	1156681	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Congenital absence of thigh and lower leg with foot present, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295089	"" []	2039658	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Congenital absence of thigh and lower leg with foot present, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295089	"" []	2039659	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence of thigh and lower leg with foot present, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295089	"" []	3189964	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Congenital absence of thigh and lower leg with foot present, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295089	"" []	3189965	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Congenital absence of thigh and lower leg with foot present, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295089	"" []	4396868	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of thigh and lower leg with foot present, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295089	"" []	4396869	\N	\N	EFO	6	EFO	Rare genetic bone disease	Congenital absence of thigh and lower leg with foot present, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295089	"" []	4396870	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Congenital absence of thigh and lower leg with foot present, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295089	"" []	6150674	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence of thigh and lower leg with foot present, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295089	"" []	5414471	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence of thigh and lower leg with foot present, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295089	"" []	5414472	\N	\N	EFO	7	EFO	bone disease	Congenital absence of thigh and lower leg with foot present, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295089	"" []	5414473	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of thigh and lower leg with foot present, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295089	"" []	6551172	\N	\N	EFO	9	EFO	disease	Congenital absence of thigh and lower leg with foot present, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295089	"" []	6150673	\N	\N	EFO	8	EFO	skeletal system disease	Congenital absence of thigh and lower leg with foot present, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295089	"" []	6889291	\N	\N	EFO	10	EFO	disposition	Congenital absence of thigh and lower leg with foot present, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295089	"" []	6633276	\N	\N	EFO	9	EFO	disease	Congenital absence of thigh and lower leg with foot present, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295089	"" []	7085979	\N	\N	EFO	11	EFO	material property	Congenital absence of thigh and lower leg with foot present, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295089	"" []	7204368	\N	\N	EFO	12	EFO	experimental factor	Congenital absence of thigh and lower leg with foot present, unilateral
Orphanet:295091	\N	\N	"" []	Orphanet:295091	"" []	76011	\N	\N	EFO	0	EFO	Congenital absence of thigh and lower leg with foot present, bilateral	Congenital absence of thigh and lower leg with foot present, bilateral
Orphanet:294977	Orphanet:295091	\N	"" []	Orphanet:295091	"" []	218807	\N	\N	EFO	1	EFO	Congenital absence of thigh and lower leg with foot present	Congenital absence of thigh and lower leg with foot present, bilateral
Orphanet:294927	Orphanet:294977	\N	"" []	Orphanet:295091	"" []	573997	\N	\N	EFO	2	EFO	Intercalary limb defects	Congenital absence of thigh and lower leg with foot present, bilateral
Orphanet:93457	Orphanet:294927	\N	"" []	Orphanet:295091	"" []	1156682	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Congenital absence of thigh and lower leg with foot present, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295091	"" []	2039660	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Congenital absence of thigh and lower leg with foot present, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295091	"" []	2039661	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence of thigh and lower leg with foot present, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295091	"" []	3189966	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Congenital absence of thigh and lower leg with foot present, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295091	"" []	3189967	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Congenital absence of thigh and lower leg with foot present, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295091	"" []	4396871	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of thigh and lower leg with foot present, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295091	"" []	4396872	\N	\N	EFO	6	EFO	Rare genetic bone disease	Congenital absence of thigh and lower leg with foot present, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295091	"" []	4396873	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Congenital absence of thigh and lower leg with foot present, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295091	"" []	6150677	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence of thigh and lower leg with foot present, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295091	"" []	5414475	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence of thigh and lower leg with foot present, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295091	"" []	5414476	\N	\N	EFO	7	EFO	bone disease	Congenital absence of thigh and lower leg with foot present, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295091	"" []	5414477	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of thigh and lower leg with foot present, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295091	"" []	6551173	\N	\N	EFO	9	EFO	disease	Congenital absence of thigh and lower leg with foot present, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295091	"" []	6150676	\N	\N	EFO	8	EFO	skeletal system disease	Congenital absence of thigh and lower leg with foot present, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295091	"" []	6889292	\N	\N	EFO	10	EFO	disposition	Congenital absence of thigh and lower leg with foot present, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295091	"" []	6633278	\N	\N	EFO	9	EFO	disease	Congenital absence of thigh and lower leg with foot present, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295091	"" []	7085980	\N	\N	EFO	11	EFO	material property	Congenital absence of thigh and lower leg with foot present, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295091	"" []	7204369	\N	\N	EFO	12	EFO	experimental factor	Congenital absence of thigh and lower leg with foot present, bilateral
Orphanet:295093	\N	\N	"" []	Orphanet:295093	"" []	76012	\N	\N	EFO	0	EFO	Congenital absence of both forearm and hand, unilateral	Congenital absence of both forearm and hand, unilateral
Orphanet:294979	Orphanet:295093	\N	"" []	Orphanet:295093	"" []	218808	\N	\N	EFO	1	EFO	Congenital absence of both forearm and hand	Congenital absence of both forearm and hand, unilateral
Orphanet:294929	Orphanet:294979	\N	"" []	Orphanet:295093	"" []	573998	\N	\N	EFO	2	EFO	Terminal limb defects	Congenital absence of both forearm and hand, unilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295093	"" []	1156683	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Congenital absence of both forearm and hand, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295093	"" []	2039662	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Congenital absence of both forearm and hand, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295093	"" []	2039663	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence of both forearm and hand, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295093	"" []	3189968	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Congenital absence of both forearm and hand, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295093	"" []	3189969	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Congenital absence of both forearm and hand, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295093	"" []	4396874	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of both forearm and hand, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295093	"" []	4396875	\N	\N	EFO	6	EFO	Rare genetic bone disease	Congenital absence of both forearm and hand, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295093	"" []	4396876	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Congenital absence of both forearm and hand, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295093	"" []	6150680	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence of both forearm and hand, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295093	"" []	5414479	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence of both forearm and hand, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295093	"" []	5414480	\N	\N	EFO	7	EFO	bone disease	Congenital absence of both forearm and hand, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295093	"" []	5414481	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of both forearm and hand, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295093	"" []	6551174	\N	\N	EFO	9	EFO	disease	Congenital absence of both forearm and hand, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295093	"" []	6150679	\N	\N	EFO	8	EFO	skeletal system disease	Congenital absence of both forearm and hand, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295093	"" []	6889293	\N	\N	EFO	10	EFO	disposition	Congenital absence of both forearm and hand, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295093	"" []	6633280	\N	\N	EFO	9	EFO	disease	Congenital absence of both forearm and hand, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295093	"" []	7085981	\N	\N	EFO	11	EFO	material property	Congenital absence of both forearm and hand, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295093	"" []	7204370	\N	\N	EFO	12	EFO	experimental factor	Congenital absence of both forearm and hand, unilateral
Orphanet:295095	\N	\N	"" []	Orphanet:295095	"" []	76013	\N	\N	EFO	0	EFO	Congenital absence of both forearm and hand, bilateral	Congenital absence of both forearm and hand, bilateral
Orphanet:294979	Orphanet:295095	\N	"" []	Orphanet:295095	"" []	218809	\N	\N	EFO	1	EFO	Congenital absence of both forearm and hand	Congenital absence of both forearm and hand, bilateral
Orphanet:294929	Orphanet:294979	\N	"" []	Orphanet:295095	"" []	573999	\N	\N	EFO	2	EFO	Terminal limb defects	Congenital absence of both forearm and hand, bilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295095	"" []	1156684	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Congenital absence of both forearm and hand, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295095	"" []	2039664	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Congenital absence of both forearm and hand, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295095	"" []	2039665	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence of both forearm and hand, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295095	"" []	3189970	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Congenital absence of both forearm and hand, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295095	"" []	3189971	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Congenital absence of both forearm and hand, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295095	"" []	4396877	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of both forearm and hand, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295095	"" []	4396878	\N	\N	EFO	6	EFO	Rare genetic bone disease	Congenital absence of both forearm and hand, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295095	"" []	4396879	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Congenital absence of both forearm and hand, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295095	"" []	6150683	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence of both forearm and hand, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295095	"" []	5414483	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence of both forearm and hand, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295095	"" []	5414484	\N	\N	EFO	7	EFO	bone disease	Congenital absence of both forearm and hand, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295095	"" []	5414485	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of both forearm and hand, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295095	"" []	6551175	\N	\N	EFO	9	EFO	disease	Congenital absence of both forearm and hand, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295095	"" []	6150682	\N	\N	EFO	8	EFO	skeletal system disease	Congenital absence of both forearm and hand, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295095	"" []	6889294	\N	\N	EFO	10	EFO	disposition	Congenital absence of both forearm and hand, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295095	"" []	6633282	\N	\N	EFO	9	EFO	disease	Congenital absence of both forearm and hand, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295095	"" []	7085982	\N	\N	EFO	11	EFO	material property	Congenital absence of both forearm and hand, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295095	"" []	7204371	\N	\N	EFO	12	EFO	experimental factor	Congenital absence of both forearm and hand, bilateral
Orphanet:295097	\N	\N	"" []	Orphanet:295097	"" []	76014	\N	\N	EFO	0	EFO	Congenital absence of both lower leg and foot, unilateral	Congenital absence of both lower leg and foot, unilateral
Orphanet:294981	Orphanet:295097	\N	"" []	Orphanet:295097	"" []	218810	\N	\N	EFO	1	EFO	Congenital absence of both lower leg and foot	Congenital absence of both lower leg and foot, unilateral
Orphanet:294929	Orphanet:294981	\N	"" []	Orphanet:295097	"" []	574000	\N	\N	EFO	2	EFO	Terminal limb defects	Congenital absence of both lower leg and foot, unilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295097	"" []	1156685	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Congenital absence of both lower leg and foot, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295097	"" []	2039666	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Congenital absence of both lower leg and foot, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295097	"" []	2039667	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence of both lower leg and foot, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295097	"" []	3189972	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Congenital absence of both lower leg and foot, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295097	"" []	3189973	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Congenital absence of both lower leg and foot, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295097	"" []	4396880	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of both lower leg and foot, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295097	"" []	4396881	\N	\N	EFO	6	EFO	Rare genetic bone disease	Congenital absence of both lower leg and foot, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295097	"" []	4396882	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Congenital absence of both lower leg and foot, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295097	"" []	6150686	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence of both lower leg and foot, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295097	"" []	5414487	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence of both lower leg and foot, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295097	"" []	5414488	\N	\N	EFO	7	EFO	bone disease	Congenital absence of both lower leg and foot, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295097	"" []	5414489	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of both lower leg and foot, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295097	"" []	6551176	\N	\N	EFO	9	EFO	disease	Congenital absence of both lower leg and foot, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295097	"" []	6150685	\N	\N	EFO	8	EFO	skeletal system disease	Congenital absence of both lower leg and foot, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295097	"" []	6889295	\N	\N	EFO	10	EFO	disposition	Congenital absence of both lower leg and foot, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295097	"" []	6633284	\N	\N	EFO	9	EFO	disease	Congenital absence of both lower leg and foot, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295097	"" []	7085983	\N	\N	EFO	11	EFO	material property	Congenital absence of both lower leg and foot, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295097	"" []	7204372	\N	\N	EFO	12	EFO	experimental factor	Congenital absence of both lower leg and foot, unilateral
Orphanet:295099	\N	\N	"" []	Orphanet:295099	"" []	76015	\N	\N	EFO	0	EFO	Congenital absence of both lower leg and foot, bilateral	Congenital absence of both lower leg and foot, bilateral
Orphanet:294981	Orphanet:295099	\N	"" []	Orphanet:295099	"" []	218811	\N	\N	EFO	1	EFO	Congenital absence of both lower leg and foot	Congenital absence of both lower leg and foot, bilateral
Orphanet:294929	Orphanet:294981	\N	"" []	Orphanet:295099	"" []	574001	\N	\N	EFO	2	EFO	Terminal limb defects	Congenital absence of both lower leg and foot, bilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295099	"" []	1156686	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Congenital absence of both lower leg and foot, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295099	"" []	2039668	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Congenital absence of both lower leg and foot, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295099	"" []	2039669	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence of both lower leg and foot, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295099	"" []	3189974	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Congenital absence of both lower leg and foot, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295099	"" []	3189975	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Congenital absence of both lower leg and foot, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295099	"" []	4396883	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of both lower leg and foot, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295099	"" []	4396884	\N	\N	EFO	6	EFO	Rare genetic bone disease	Congenital absence of both lower leg and foot, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295099	"" []	4396885	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Congenital absence of both lower leg and foot, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295099	"" []	6150689	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence of both lower leg and foot, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295099	"" []	5414491	\N	\N	EFO	7	EFO	genetic disorder	Congenital absence of both lower leg and foot, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295099	"" []	5414492	\N	\N	EFO	7	EFO	bone disease	Congenital absence of both lower leg and foot, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295099	"" []	5414493	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence of both lower leg and foot, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295099	"" []	6551177	\N	\N	EFO	9	EFO	disease	Congenital absence of both lower leg and foot, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295099	"" []	6150688	\N	\N	EFO	8	EFO	skeletal system disease	Congenital absence of both lower leg and foot, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295099	"" []	6889296	\N	\N	EFO	10	EFO	disposition	Congenital absence of both lower leg and foot, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295099	"" []	6633286	\N	\N	EFO	9	EFO	disease	Congenital absence of both lower leg and foot, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295099	"" []	7085984	\N	\N	EFO	11	EFO	material property	Congenital absence of both lower leg and foot, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295099	"" []	7204373	\N	\N	EFO	12	EFO	experimental factor	Congenital absence of both lower leg and foot, bilateral
Orphanet:2951	\N	\N	"" []	Orphanet:2951	"" []	76016	\N	\N	EFO	0	EFO	Absent thumb - short stature - immunodeficiency	Absent thumb - short stature - immunodeficiency
Orphanet:101972	Orphanet:2951	\N	"" []	Orphanet:2951	"" []	218812	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Absent thumb - short stature - immunodeficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:2951	"" []	574002	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Absent thumb - short stature - immunodeficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:2951	"" []	1156687	\N	\N	EFO	3	EFO	Primary immunodeficiency	Absent thumb - short stature - immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:2951	"" []	2039670	\N	\N	EFO	4	EFO	Rare genetic immune disease	Absent thumb - short stature - immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2951	"" []	3189976	\N	\N	EFO	5	EFO	genetic disorder	Absent thumb - short stature - immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:2951	"" []	3189977	\N	\N	EFO	5	EFO	immune system disease	Absent thumb - short stature - immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2951	"" []	4396886	\N	\N	EFO	6	EFO	disease	Absent thumb - short stature - immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2951	"" []	4396887	\N	\N	EFO	6	EFO	disease	Absent thumb - short stature - immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2951	"" []	5414494	\N	\N	EFO	7	EFO	disposition	Absent thumb - short stature - immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2951	"" []	6150690	\N	\N	EFO	8	EFO	material property	Absent thumb - short stature - immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2951	"" []	6633287	\N	\N	EFO	9	EFO	experimental factor	Absent thumb - short stature - immunodeficiency
Orphanet:295101	\N	\N	"" []	Orphanet:295101	"" []	76017	\N	\N	EFO	0	EFO	Acheiria, unilateral	Acheiria, unilateral
Orphanet:294983	Orphanet:295101	\N	"" []	Orphanet:295101	"" []	218813	\N	\N	EFO	1	EFO	Acheiria	Acheiria, unilateral
Orphanet:294929	Orphanet:294983	\N	"" []	Orphanet:295101	"" []	574003	\N	\N	EFO	2	EFO	Terminal limb defects	Acheiria, unilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295101	"" []	1156688	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Acheiria, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295101	"" []	2039671	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Acheiria, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295101	"" []	2039672	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acheiria, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295101	"" []	3189978	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Acheiria, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295101	"" []	3189979	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Acheiria, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295101	"" []	4396888	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acheiria, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295101	"" []	4396889	\N	\N	EFO	6	EFO	Rare genetic bone disease	Acheiria, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295101	"" []	4396890	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Acheiria, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295101	"" []	6150693	\N	\N	EFO	8	EFO	genetic disorder	Acheiria, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295101	"" []	5414496	\N	\N	EFO	7	EFO	genetic disorder	Acheiria, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295101	"" []	5414497	\N	\N	EFO	7	EFO	bone disease	Acheiria, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295101	"" []	5414498	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Acheiria, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295101	"" []	6551178	\N	\N	EFO	9	EFO	disease	Acheiria, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295101	"" []	6150692	\N	\N	EFO	8	EFO	skeletal system disease	Acheiria, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295101	"" []	6889297	\N	\N	EFO	10	EFO	disposition	Acheiria, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295101	"" []	6633289	\N	\N	EFO	9	EFO	disease	Acheiria, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295101	"" []	7085985	\N	\N	EFO	11	EFO	material property	Acheiria, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295101	"" []	7204374	\N	\N	EFO	12	EFO	experimental factor	Acheiria, unilateral
Orphanet:295103	\N	\N	"" []	Orphanet:295103	"" []	76018	\N	\N	EFO	0	EFO	Acheiria, bilateral	Acheiria, bilateral
Orphanet:294983	Orphanet:295103	\N	"" []	Orphanet:295103	"" []	218814	\N	\N	EFO	1	EFO	Acheiria	Acheiria, bilateral
Orphanet:294929	Orphanet:294983	\N	"" []	Orphanet:295103	"" []	574004	\N	\N	EFO	2	EFO	Terminal limb defects	Acheiria, bilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295103	"" []	1156689	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Acheiria, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295103	"" []	2039673	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Acheiria, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295103	"" []	2039674	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acheiria, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295103	"" []	3189980	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Acheiria, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295103	"" []	3189981	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Acheiria, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295103	"" []	4396891	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acheiria, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295103	"" []	4396892	\N	\N	EFO	6	EFO	Rare genetic bone disease	Acheiria, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295103	"" []	4396893	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Acheiria, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295103	"" []	6150696	\N	\N	EFO	8	EFO	genetic disorder	Acheiria, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295103	"" []	5414500	\N	\N	EFO	7	EFO	genetic disorder	Acheiria, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295103	"" []	5414501	\N	\N	EFO	7	EFO	bone disease	Acheiria, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295103	"" []	5414502	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Acheiria, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295103	"" []	6551179	\N	\N	EFO	9	EFO	disease	Acheiria, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295103	"" []	6150695	\N	\N	EFO	8	EFO	skeletal system disease	Acheiria, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295103	"" []	6889298	\N	\N	EFO	10	EFO	disposition	Acheiria, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295103	"" []	6633291	\N	\N	EFO	9	EFO	disease	Acheiria, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295103	"" []	7085986	\N	\N	EFO	11	EFO	material property	Acheiria, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295103	"" []	7204375	\N	\N	EFO	12	EFO	experimental factor	Acheiria, bilateral
Orphanet:295105	\N	\N	"" []	Orphanet:295105	"" []	76019	\N	\N	EFO	0	EFO	Apodia, unilateral	Apodia, unilateral
Orphanet:294986	Orphanet:295105	\N	"" []	Orphanet:295105	"" []	218815	\N	\N	EFO	1	EFO	Apodia	Apodia, unilateral
Orphanet:294929	Orphanet:294986	\N	"" []	Orphanet:295105	"" []	574005	\N	\N	EFO	2	EFO	Terminal limb defects	Apodia, unilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295105	"" []	1156690	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Apodia, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295105	"" []	2039675	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Apodia, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295105	"" []	2039676	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Apodia, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295105	"" []	3189982	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Apodia, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295105	"" []	3189983	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Apodia, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295105	"" []	4396894	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Apodia, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295105	"" []	4396895	\N	\N	EFO	6	EFO	Rare genetic bone disease	Apodia, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295105	"" []	4396896	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Apodia, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295105	"" []	6150699	\N	\N	EFO	8	EFO	genetic disorder	Apodia, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295105	"" []	5414504	\N	\N	EFO	7	EFO	genetic disorder	Apodia, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295105	"" []	5414505	\N	\N	EFO	7	EFO	bone disease	Apodia, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295105	"" []	5414506	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Apodia, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295105	"" []	6551180	\N	\N	EFO	9	EFO	disease	Apodia, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295105	"" []	6150698	\N	\N	EFO	8	EFO	skeletal system disease	Apodia, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295105	"" []	6889299	\N	\N	EFO	10	EFO	disposition	Apodia, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295105	"" []	6633293	\N	\N	EFO	9	EFO	disease	Apodia, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295105	"" []	7085987	\N	\N	EFO	11	EFO	material property	Apodia, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295105	"" []	7204376	\N	\N	EFO	12	EFO	experimental factor	Apodia, unilateral
Orphanet:295107	\N	\N	"" []	Orphanet:295107	"" []	76020	\N	\N	EFO	0	EFO	Apodia, bilateral	Apodia, bilateral
Orphanet:294986	Orphanet:295107	\N	"" []	Orphanet:295107	"" []	218816	\N	\N	EFO	1	EFO	Apodia	Apodia, bilateral
Orphanet:294929	Orphanet:294986	\N	"" []	Orphanet:295107	"" []	574006	\N	\N	EFO	2	EFO	Terminal limb defects	Apodia, bilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295107	"" []	1156691	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Apodia, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295107	"" []	2039677	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Apodia, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295107	"" []	2039678	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Apodia, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295107	"" []	3189984	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Apodia, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295107	"" []	3189985	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Apodia, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295107	"" []	4396897	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Apodia, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295107	"" []	4396898	\N	\N	EFO	6	EFO	Rare genetic bone disease	Apodia, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295107	"" []	4396899	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Apodia, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295107	"" []	6150702	\N	\N	EFO	8	EFO	genetic disorder	Apodia, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295107	"" []	5414508	\N	\N	EFO	7	EFO	genetic disorder	Apodia, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295107	"" []	5414509	\N	\N	EFO	7	EFO	bone disease	Apodia, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295107	"" []	5414510	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Apodia, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295107	"" []	6551181	\N	\N	EFO	9	EFO	disease	Apodia, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295107	"" []	6150701	\N	\N	EFO	8	EFO	skeletal system disease	Apodia, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295107	"" []	6889300	\N	\N	EFO	10	EFO	disposition	Apodia, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295107	"" []	6633295	\N	\N	EFO	9	EFO	disease	Apodia, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295107	"" []	7085988	\N	\N	EFO	11	EFO	material property	Apodia, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295107	"" []	7204377	\N	\N	EFO	12	EFO	experimental factor	Apodia, bilateral
Orphanet:295110	\N	\N	"" []	Orphanet:295110	"" []	76021	\N	\N	EFO	0	EFO	Congenital absence/hypoplasia of thumb, unilateral	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:294988	Orphanet:295110	\N	"" []	Orphanet:295110	"" []	218817	\N	\N	EFO	1	EFO	Congenital absence/hypoplasia of thumb	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:294931	Orphanet:294988	\N	"" []	Orphanet:295110	"" []	574007	\N	\N	EFO	2	EFO	Adactyly of hand	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:294929	Orphanet:294931	\N	"" []	Orphanet:295110	"" []	1156692	\N	\N	EFO	3	EFO	Terminal limb defects	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295110	"" []	2039679	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295110	"" []	3189986	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295110	"" []	3189987	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295110	"" []	4396900	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295110	"" []	4396901	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295110	"" []	5414511	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295110	"" []	5414512	\N	\N	EFO	7	EFO	Rare genetic bone disease	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295110	"" []	5414513	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Congenital absence/hypoplasia of thumb, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295110	"" []	6633298	\N	\N	EFO	9	EFO	genetic disorder	Congenital absence/hypoplasia of thumb, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295110	"" []	6150704	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence/hypoplasia of thumb, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295110	"" []	6150705	\N	\N	EFO	8	EFO	bone disease	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295110	"" []	6150706	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence/hypoplasia of thumb, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295110	"" []	6889301	\N	\N	EFO	10	EFO	disease	Congenital absence/hypoplasia of thumb, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295110	"" []	6633297	\N	\N	EFO	9	EFO	skeletal system disease	Congenital absence/hypoplasia of thumb, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295110	"" []	7085989	\N	\N	EFO	11	EFO	disposition	Congenital absence/hypoplasia of thumb, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295110	"" []	6925924	\N	\N	EFO	10	EFO	disease	Congenital absence/hypoplasia of thumb, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295110	"" []	7204378	\N	\N	EFO	12	EFO	material property	Congenital absence/hypoplasia of thumb, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295110	"" []	7286393	\N	\N	EFO	13	EFO	experimental factor	Congenital absence/hypoplasia of thumb, unilateral
Orphanet:295112	\N	\N	"" []	Orphanet:295112	"" []	76022	\N	\N	EFO	0	EFO	Congenital absence/hypoplasia of thumb, bilateral	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:294988	Orphanet:295112	\N	"" []	Orphanet:295112	"" []	218818	\N	\N	EFO	1	EFO	Congenital absence/hypoplasia of thumb	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:294931	Orphanet:294988	\N	"" []	Orphanet:295112	"" []	574008	\N	\N	EFO	2	EFO	Adactyly of hand	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:294929	Orphanet:294931	\N	"" []	Orphanet:295112	"" []	1156693	\N	\N	EFO	3	EFO	Terminal limb defects	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295112	"" []	2039680	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295112	"" []	3189988	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295112	"" []	3189989	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295112	"" []	4396902	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295112	"" []	4396903	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295112	"" []	5414514	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295112	"" []	5414515	\N	\N	EFO	7	EFO	Rare genetic bone disease	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295112	"" []	5414516	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Congenital absence/hypoplasia of thumb, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295112	"" []	6633301	\N	\N	EFO	9	EFO	genetic disorder	Congenital absence/hypoplasia of thumb, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295112	"" []	6150708	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence/hypoplasia of thumb, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295112	"" []	6150709	\N	\N	EFO	8	EFO	bone disease	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295112	"" []	6150710	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence/hypoplasia of thumb, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295112	"" []	6889302	\N	\N	EFO	10	EFO	disease	Congenital absence/hypoplasia of thumb, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295112	"" []	6633300	\N	\N	EFO	9	EFO	skeletal system disease	Congenital absence/hypoplasia of thumb, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295112	"" []	7085990	\N	\N	EFO	11	EFO	disposition	Congenital absence/hypoplasia of thumb, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295112	"" []	6925926	\N	\N	EFO	10	EFO	disease	Congenital absence/hypoplasia of thumb, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295112	"" []	7204379	\N	\N	EFO	12	EFO	material property	Congenital absence/hypoplasia of thumb, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295112	"" []	7286394	\N	\N	EFO	13	EFO	experimental factor	Congenital absence/hypoplasia of thumb, bilateral
Orphanet:295114	\N	\N	"" []	Orphanet:295114	"" []	76023	\N	\N	EFO	0	EFO	Congenital absence/hypoplasia of fingers excluding thumb, bilateral	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:294990	Orphanet:295114	\N	"" []	Orphanet:295114	"" []	218819	\N	\N	EFO	1	EFO	Congenital absence/hypoplasia of fingers excluding thumb	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:294931	Orphanet:294990	\N	"" []	Orphanet:295114	"" []	574009	\N	\N	EFO	2	EFO	Adactyly of hand	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:294929	Orphanet:294931	\N	"" []	Orphanet:295114	"" []	1156694	\N	\N	EFO	3	EFO	Terminal limb defects	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295114	"" []	2039681	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295114	"" []	3189990	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295114	"" []	3189991	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295114	"" []	4396904	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295114	"" []	4396905	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295114	"" []	5414517	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295114	"" []	5414518	\N	\N	EFO	7	EFO	Rare genetic bone disease	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295114	"" []	5414519	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295114	"" []	6633304	\N	\N	EFO	9	EFO	genetic disorder	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295114	"" []	6150712	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295114	"" []	6150713	\N	\N	EFO	8	EFO	bone disease	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295114	"" []	6150714	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295114	"" []	6889303	\N	\N	EFO	10	EFO	disease	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295114	"" []	6633303	\N	\N	EFO	9	EFO	skeletal system disease	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295114	"" []	7085991	\N	\N	EFO	11	EFO	disposition	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295114	"" []	6925928	\N	\N	EFO	10	EFO	disease	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295114	"" []	7204380	\N	\N	EFO	12	EFO	material property	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295114	"" []	7286395	\N	\N	EFO	13	EFO	experimental factor	Congenital absence/hypoplasia of fingers excluding thumb, bilateral
Orphanet:295116	\N	\N	"" []	Orphanet:295116	"" []	76024	\N	\N	EFO	0	EFO	Adactyly of foot, unilateral	Adactyly of foot, unilateral
Orphanet:931	Orphanet:295116	\N	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	Orphanet:295116	"" []	218820	\N	\N	EFO	1	EFO	Acheiropodia	Adactyly of foot, unilateral
EFO:0005571	Orphanet:931	\N	"A bone development disease that results_in defective development of cartilage or bone." []	Orphanet:295116	"" []	574010	\N	\N	EFO	2	EFO	osteochondrodysplasia	Adactyly of foot, unilateral
Orphanet:294929	Orphanet:931	\N	"" []	Orphanet:295116	"" []	574011	\N	\N	EFO	2	EFO	Terminal limb defects	Adactyly of foot, unilateral
EFO:0005541	EFO:0005571	\N	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	Orphanet:295116	"" []	1156695	\N	\N	EFO	3	EFO	bone development disease	Adactyly of foot, unilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295116	"" []	1156696	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Adactyly of foot, unilateral
EFO:0004260	EFO:0005541	\N	"Diseases of BONES." []	Orphanet:295116	"" []	2039682	\N	\N	EFO	4	EFO	bone disease	Adactyly of foot, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295116	"" []	2039683	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Adactyly of foot, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295116	"" []	2039684	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Adactyly of foot, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295116	"" []	6150717	\N	\N	EFO	8	EFO	skeletal system disease	Adactyly of foot, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295116	"" []	3189993	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Adactyly of foot, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295116	"" []	3189994	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Adactyly of foot, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295116	"" []	6410105	\N	\N	EFO	9	EFO	disease	Adactyly of foot, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295116	"" []	4396907	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Adactyly of foot, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295116	"" []	4396908	\N	\N	EFO	6	EFO	Rare genetic bone disease	Adactyly of foot, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295116	"" []	4396909	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Adactyly of foot, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295116	"" []	6807944	\N	\N	EFO	10	EFO	disposition	Adactyly of foot, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295116	"" []	6150718	\N	\N	EFO	8	EFO	genetic disorder	Adactyly of foot, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295116	"" []	5414522	\N	\N	EFO	7	EFO	genetic disorder	Adactyly of foot, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295116	"" []	5414523	\N	\N	EFO	7	EFO	bone disease	Adactyly of foot, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295116	"" []	5414524	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Adactyly of foot, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295116	"" []	7048682	\N	\N	EFO	11	EFO	material property	Adactyly of foot, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295116	"" []	6551182	\N	\N	EFO	9	EFO	disease	Adactyly of foot, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295116	"" []	7190231	\N	\N	EFO	12	EFO	experimental factor	Adactyly of foot, unilateral
Orphanet:295118	\N	\N	"" []	Orphanet:295118	"" []	76025	\N	\N	EFO	0	EFO	Adactyly of foot, bilateral	Adactyly of foot, bilateral
Orphanet:931	Orphanet:295118	\N	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	Orphanet:295118	"" []	218821	\N	\N	EFO	1	EFO	Acheiropodia	Adactyly of foot, bilateral
EFO:0005571	Orphanet:931	\N	"A bone development disease that results_in defective development of cartilage or bone." []	Orphanet:295118	"" []	574012	\N	\N	EFO	2	EFO	osteochondrodysplasia	Adactyly of foot, bilateral
Orphanet:294929	Orphanet:931	\N	"" []	Orphanet:295118	"" []	574013	\N	\N	EFO	2	EFO	Terminal limb defects	Adactyly of foot, bilateral
EFO:0005541	EFO:0005571	\N	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	Orphanet:295118	"" []	1156697	\N	\N	EFO	3	EFO	bone development disease	Adactyly of foot, bilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295118	"" []	1156698	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Adactyly of foot, bilateral
EFO:0004260	EFO:0005541	\N	"Diseases of BONES." []	Orphanet:295118	"" []	2039685	\N	\N	EFO	4	EFO	bone disease	Adactyly of foot, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295118	"" []	2039686	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Adactyly of foot, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295118	"" []	2039687	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Adactyly of foot, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295118	"" []	6150721	\N	\N	EFO	8	EFO	skeletal system disease	Adactyly of foot, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295118	"" []	3189996	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Adactyly of foot, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295118	"" []	3189997	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Adactyly of foot, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295118	"" []	6410106	\N	\N	EFO	9	EFO	disease	Adactyly of foot, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295118	"" []	4396911	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Adactyly of foot, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295118	"" []	4396912	\N	\N	EFO	6	EFO	Rare genetic bone disease	Adactyly of foot, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295118	"" []	4396913	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Adactyly of foot, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295118	"" []	6807945	\N	\N	EFO	10	EFO	disposition	Adactyly of foot, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295118	"" []	6150722	\N	\N	EFO	8	EFO	genetic disorder	Adactyly of foot, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295118	"" []	5414527	\N	\N	EFO	7	EFO	genetic disorder	Adactyly of foot, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295118	"" []	5414528	\N	\N	EFO	7	EFO	bone disease	Adactyly of foot, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295118	"" []	5414529	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Adactyly of foot, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295118	"" []	7048683	\N	\N	EFO	11	EFO	material property	Adactyly of foot, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295118	"" []	6551183	\N	\N	EFO	9	EFO	disease	Adactyly of foot, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295118	"" []	7190232	\N	\N	EFO	12	EFO	experimental factor	Adactyly of foot, bilateral
Orphanet:295120	\N	\N	"" []	Orphanet:295120	"" []	76026	\N	\N	EFO	0	EFO	Split hand, unilateral	Split hand, unilateral
Orphanet:294992	Orphanet:295120	\N	"" []	Orphanet:295120	"" []	218822	\N	\N	EFO	1	EFO	Split hand	Split hand, unilateral
Orphanet:294935	Orphanet:294992	\N	"" []	Orphanet:295120	"" []	574014	\N	\N	EFO	2	EFO	Split hand or/and split foot malformation	Split hand, unilateral
Orphanet:294929	Orphanet:294935	\N	"" []	Orphanet:295120	"" []	1156699	\N	\N	EFO	3	EFO	Terminal limb defects	Split hand, unilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295120	"" []	2039688	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Split hand, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295120	"" []	3189998	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Split hand, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295120	"" []	3189999	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Split hand, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295120	"" []	4396914	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Split hand, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295120	"" []	4396915	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Split hand, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295120	"" []	5414530	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Split hand, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295120	"" []	5414531	\N	\N	EFO	7	EFO	Rare genetic bone disease	Split hand, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295120	"" []	5414532	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Split hand, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295120	"" []	6633311	\N	\N	EFO	9	EFO	genetic disorder	Split hand, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295120	"" []	6150724	\N	\N	EFO	8	EFO	genetic disorder	Split hand, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295120	"" []	6150725	\N	\N	EFO	8	EFO	bone disease	Split hand, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295120	"" []	6150726	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Split hand, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295120	"" []	6889304	\N	\N	EFO	10	EFO	disease	Split hand, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295120	"" []	6633310	\N	\N	EFO	9	EFO	skeletal system disease	Split hand, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295120	"" []	7085992	\N	\N	EFO	11	EFO	disposition	Split hand, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295120	"" []	6925930	\N	\N	EFO	10	EFO	disease	Split hand, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295120	"" []	7204381	\N	\N	EFO	12	EFO	material property	Split hand, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295120	"" []	7286396	\N	\N	EFO	13	EFO	experimental factor	Split hand, unilateral
Orphanet:295122	\N	\N	"" []	Orphanet:295122	"" []	76027	\N	\N	EFO	0	EFO	Split hand, bilateral	Split hand, bilateral
Orphanet:294992	Orphanet:295122	\N	"" []	Orphanet:295122	"" []	218823	\N	\N	EFO	1	EFO	Split hand	Split hand, bilateral
Orphanet:294935	Orphanet:294992	\N	"" []	Orphanet:295122	"" []	574015	\N	\N	EFO	2	EFO	Split hand or/and split foot malformation	Split hand, bilateral
Orphanet:294929	Orphanet:294935	\N	"" []	Orphanet:295122	"" []	1156700	\N	\N	EFO	3	EFO	Terminal limb defects	Split hand, bilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295122	"" []	2039689	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Split hand, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295122	"" []	3190000	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Split hand, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295122	"" []	3190001	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Split hand, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295122	"" []	4396916	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Split hand, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295122	"" []	4396917	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Split hand, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295122	"" []	5414533	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Split hand, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295122	"" []	5414534	\N	\N	EFO	7	EFO	Rare genetic bone disease	Split hand, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295122	"" []	5414535	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Split hand, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295122	"" []	6633314	\N	\N	EFO	9	EFO	genetic disorder	Split hand, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295122	"" []	6150728	\N	\N	EFO	8	EFO	genetic disorder	Split hand, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295122	"" []	6150729	\N	\N	EFO	8	EFO	bone disease	Split hand, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295122	"" []	6150730	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Split hand, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295122	"" []	6889305	\N	\N	EFO	10	EFO	disease	Split hand, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295122	"" []	6633313	\N	\N	EFO	9	EFO	skeletal system disease	Split hand, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295122	"" []	7085993	\N	\N	EFO	11	EFO	disposition	Split hand, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295122	"" []	6925932	\N	\N	EFO	10	EFO	disease	Split hand, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295122	"" []	7204382	\N	\N	EFO	12	EFO	material property	Split hand, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295122	"" []	7286397	\N	\N	EFO	13	EFO	experimental factor	Split hand, bilateral
Orphanet:295124	\N	\N	"" []	Orphanet:295124	"" []	76028	\N	\N	EFO	0	EFO	Split foot, unilateral	Split foot, unilateral
Orphanet:294994	Orphanet:295124	\N	"" []	Orphanet:295124	"" []	218824	\N	\N	EFO	1	EFO	Split foot	Split foot, unilateral
Orphanet:294935	Orphanet:294994	\N	"" []	Orphanet:295124	"" []	574016	\N	\N	EFO	2	EFO	Split hand or/and split foot malformation	Split foot, unilateral
Orphanet:294929	Orphanet:294935	\N	"" []	Orphanet:295124	"" []	1156701	\N	\N	EFO	3	EFO	Terminal limb defects	Split foot, unilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295124	"" []	2039690	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Split foot, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295124	"" []	3190002	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Split foot, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295124	"" []	3190003	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Split foot, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295124	"" []	4396918	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Split foot, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295124	"" []	4396919	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Split foot, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295124	"" []	5414536	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Split foot, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295124	"" []	5414537	\N	\N	EFO	7	EFO	Rare genetic bone disease	Split foot, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295124	"" []	5414538	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Split foot, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295124	"" []	6633317	\N	\N	EFO	9	EFO	genetic disorder	Split foot, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295124	"" []	6150732	\N	\N	EFO	8	EFO	genetic disorder	Split foot, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295124	"" []	6150733	\N	\N	EFO	8	EFO	bone disease	Split foot, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295124	"" []	6150734	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Split foot, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295124	"" []	6889306	\N	\N	EFO	10	EFO	disease	Split foot, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295124	"" []	6633316	\N	\N	EFO	9	EFO	skeletal system disease	Split foot, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295124	"" []	7085994	\N	\N	EFO	11	EFO	disposition	Split foot, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295124	"" []	6925934	\N	\N	EFO	10	EFO	disease	Split foot, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295124	"" []	7204383	\N	\N	EFO	12	EFO	material property	Split foot, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295124	"" []	7286398	\N	\N	EFO	13	EFO	experimental factor	Split foot, unilateral
Orphanet:295126	\N	\N	"" []	Orphanet:295126	"" []	76029	\N	\N	EFO	0	EFO	Split foot, bilateral	Split foot, bilateral
Orphanet:294994	Orphanet:295126	\N	"" []	Orphanet:295126	"" []	218825	\N	\N	EFO	1	EFO	Split foot	Split foot, bilateral
Orphanet:294935	Orphanet:294994	\N	"" []	Orphanet:295126	"" []	574017	\N	\N	EFO	2	EFO	Split hand or/and split foot malformation	Split foot, bilateral
Orphanet:294929	Orphanet:294935	\N	"" []	Orphanet:295126	"" []	1156702	\N	\N	EFO	3	EFO	Terminal limb defects	Split foot, bilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295126	"" []	2039691	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Split foot, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295126	"" []	3190004	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Split foot, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295126	"" []	3190005	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Split foot, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295126	"" []	4396920	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Split foot, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295126	"" []	4396921	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Split foot, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295126	"" []	5414539	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Split foot, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295126	"" []	5414540	\N	\N	EFO	7	EFO	Rare genetic bone disease	Split foot, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295126	"" []	5414541	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Split foot, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295126	"" []	6633320	\N	\N	EFO	9	EFO	genetic disorder	Split foot, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295126	"" []	6150736	\N	\N	EFO	8	EFO	genetic disorder	Split foot, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295126	"" []	6150737	\N	\N	EFO	8	EFO	bone disease	Split foot, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295126	"" []	6150738	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Split foot, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295126	"" []	6889307	\N	\N	EFO	10	EFO	disease	Split foot, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295126	"" []	6633319	\N	\N	EFO	9	EFO	skeletal system disease	Split foot, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295126	"" []	7085995	\N	\N	EFO	11	EFO	disposition	Split foot, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295126	"" []	6925936	\N	\N	EFO	10	EFO	disease	Split foot, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295126	"" []	7204384	\N	\N	EFO	12	EFO	material property	Split foot, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295126	"" []	7286399	\N	\N	EFO	13	EFO	experimental factor	Split foot, bilateral
Orphanet:295128	\N	\N	"" []	Orphanet:295128	"" []	76030	\N	\N	EFO	0	EFO	Brachydactyly of fingers, unilateral	Brachydactyly of fingers, unilateral
Orphanet:294996	Orphanet:295128	\N	"" []	Orphanet:295128	"" []	218826	\N	\N	EFO	1	EFO	Brachydactyly of fingers	Brachydactyly of fingers, unilateral
Orphanet:294937	Orphanet:294996	\N	"" []	Orphanet:295128	"" []	574018	\N	\N	EFO	2	EFO	Brachydactyly	Brachydactyly of fingers, unilateral
Orphanet:294929	Orphanet:294937	\N	"" []	Orphanet:295128	"" []	1156703	\N	\N	EFO	3	EFO	Terminal limb defects	Brachydactyly of fingers, unilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295128	"" []	2039692	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Brachydactyly of fingers, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295128	"" []	3190006	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Brachydactyly of fingers, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295128	"" []	3190007	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly of fingers, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295128	"" []	4396922	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Brachydactyly of fingers, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295128	"" []	4396923	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Brachydactyly of fingers, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295128	"" []	5414542	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly of fingers, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295128	"" []	5414543	\N	\N	EFO	7	EFO	Rare genetic bone disease	Brachydactyly of fingers, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295128	"" []	5414544	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Brachydactyly of fingers, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295128	"" []	6633323	\N	\N	EFO	9	EFO	genetic disorder	Brachydactyly of fingers, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295128	"" []	6150740	\N	\N	EFO	8	EFO	genetic disorder	Brachydactyly of fingers, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295128	"" []	6150741	\N	\N	EFO	8	EFO	bone disease	Brachydactyly of fingers, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295128	"" []	6150742	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly of fingers, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295128	"" []	6889308	\N	\N	EFO	10	EFO	disease	Brachydactyly of fingers, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295128	"" []	6633322	\N	\N	EFO	9	EFO	skeletal system disease	Brachydactyly of fingers, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295128	"" []	7085996	\N	\N	EFO	11	EFO	disposition	Brachydactyly of fingers, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295128	"" []	6925938	\N	\N	EFO	10	EFO	disease	Brachydactyly of fingers, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295128	"" []	7204385	\N	\N	EFO	12	EFO	material property	Brachydactyly of fingers, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295128	"" []	7286400	\N	\N	EFO	13	EFO	experimental factor	Brachydactyly of fingers, unilateral
Orphanet:295130	\N	\N	"" []	Orphanet:295130	"" []	76031	\N	\N	EFO	0	EFO	Brachydactyly of fingers, bilateral	Brachydactyly of fingers, bilateral
Orphanet:294996	Orphanet:295130	\N	"" []	Orphanet:295130	"" []	218827	\N	\N	EFO	1	EFO	Brachydactyly of fingers	Brachydactyly of fingers, bilateral
Orphanet:294937	Orphanet:294996	\N	"" []	Orphanet:295130	"" []	574019	\N	\N	EFO	2	EFO	Brachydactyly	Brachydactyly of fingers, bilateral
Orphanet:294929	Orphanet:294937	\N	"" []	Orphanet:295130	"" []	1156704	\N	\N	EFO	3	EFO	Terminal limb defects	Brachydactyly of fingers, bilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295130	"" []	2039693	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Brachydactyly of fingers, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295130	"" []	3190008	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Brachydactyly of fingers, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295130	"" []	3190009	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly of fingers, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295130	"" []	4396924	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Brachydactyly of fingers, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295130	"" []	4396925	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Brachydactyly of fingers, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295130	"" []	5414545	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly of fingers, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295130	"" []	5414546	\N	\N	EFO	7	EFO	Rare genetic bone disease	Brachydactyly of fingers, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295130	"" []	5414547	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Brachydactyly of fingers, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295130	"" []	6633326	\N	\N	EFO	9	EFO	genetic disorder	Brachydactyly of fingers, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295130	"" []	6150744	\N	\N	EFO	8	EFO	genetic disorder	Brachydactyly of fingers, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295130	"" []	6150745	\N	\N	EFO	8	EFO	bone disease	Brachydactyly of fingers, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295130	"" []	6150746	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly of fingers, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295130	"" []	6889309	\N	\N	EFO	10	EFO	disease	Brachydactyly of fingers, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295130	"" []	6633325	\N	\N	EFO	9	EFO	skeletal system disease	Brachydactyly of fingers, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295130	"" []	7085997	\N	\N	EFO	11	EFO	disposition	Brachydactyly of fingers, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295130	"" []	6925940	\N	\N	EFO	10	EFO	disease	Brachydactyly of fingers, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295130	"" []	7204386	\N	\N	EFO	12	EFO	material property	Brachydactyly of fingers, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295130	"" []	7286401	\N	\N	EFO	13	EFO	experimental factor	Brachydactyly of fingers, bilateral
Orphanet:295132	\N	\N	"" []	Orphanet:295132	"" []	76032	\N	\N	EFO	0	EFO	Brachydactyly of toes, unilateral	Brachydactyly of toes, unilateral
Orphanet:294998	Orphanet:295132	\N	"" []	Orphanet:295132	"" []	218828	\N	\N	EFO	1	EFO	Brachydactyly of toes	Brachydactyly of toes, unilateral
Orphanet:294937	Orphanet:294998	\N	"" []	Orphanet:295132	"" []	574020	\N	\N	EFO	2	EFO	Brachydactyly	Brachydactyly of toes, unilateral
Orphanet:294929	Orphanet:294937	\N	"" []	Orphanet:295132	"" []	1156705	\N	\N	EFO	3	EFO	Terminal limb defects	Brachydactyly of toes, unilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295132	"" []	2039694	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Brachydactyly of toes, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295132	"" []	3190010	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Brachydactyly of toes, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295132	"" []	3190011	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly of toes, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295132	"" []	4396926	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Brachydactyly of toes, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295132	"" []	4396927	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Brachydactyly of toes, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295132	"" []	5414548	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly of toes, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295132	"" []	5414549	\N	\N	EFO	7	EFO	Rare genetic bone disease	Brachydactyly of toes, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295132	"" []	5414550	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Brachydactyly of toes, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295132	"" []	6633329	\N	\N	EFO	9	EFO	genetic disorder	Brachydactyly of toes, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295132	"" []	6150748	\N	\N	EFO	8	EFO	genetic disorder	Brachydactyly of toes, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295132	"" []	6150749	\N	\N	EFO	8	EFO	bone disease	Brachydactyly of toes, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295132	"" []	6150750	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly of toes, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295132	"" []	6889310	\N	\N	EFO	10	EFO	disease	Brachydactyly of toes, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295132	"" []	6633328	\N	\N	EFO	9	EFO	skeletal system disease	Brachydactyly of toes, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295132	"" []	7085998	\N	\N	EFO	11	EFO	disposition	Brachydactyly of toes, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295132	"" []	6925942	\N	\N	EFO	10	EFO	disease	Brachydactyly of toes, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295132	"" []	7204387	\N	\N	EFO	12	EFO	material property	Brachydactyly of toes, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295132	"" []	7286402	\N	\N	EFO	13	EFO	experimental factor	Brachydactyly of toes, unilateral
Orphanet:295134	\N	\N	"" []	Orphanet:295134	"" []	76033	\N	\N	EFO	0	EFO	Brachydactyly of toes, bilateral	Brachydactyly of toes, bilateral
Orphanet:294998	Orphanet:295134	\N	"" []	Orphanet:295134	"" []	218829	\N	\N	EFO	1	EFO	Brachydactyly of toes	Brachydactyly of toes, bilateral
Orphanet:294937	Orphanet:294998	\N	"" []	Orphanet:295134	"" []	574021	\N	\N	EFO	2	EFO	Brachydactyly	Brachydactyly of toes, bilateral
Orphanet:294929	Orphanet:294937	\N	"" []	Orphanet:295134	"" []	1156706	\N	\N	EFO	3	EFO	Terminal limb defects	Brachydactyly of toes, bilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295134	"" []	2039695	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Brachydactyly of toes, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295134	"" []	3190012	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Brachydactyly of toes, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295134	"" []	3190013	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly of toes, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295134	"" []	4396928	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Brachydactyly of toes, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295134	"" []	4396929	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Brachydactyly of toes, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295134	"" []	5414551	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly of toes, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295134	"" []	5414552	\N	\N	EFO	7	EFO	Rare genetic bone disease	Brachydactyly of toes, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295134	"" []	5414553	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Brachydactyly of toes, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295134	"" []	6633332	\N	\N	EFO	9	EFO	genetic disorder	Brachydactyly of toes, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295134	"" []	6150752	\N	\N	EFO	8	EFO	genetic disorder	Brachydactyly of toes, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295134	"" []	6150753	\N	\N	EFO	8	EFO	bone disease	Brachydactyly of toes, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295134	"" []	6150754	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly of toes, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295134	"" []	6889311	\N	\N	EFO	10	EFO	disease	Brachydactyly of toes, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295134	"" []	6633331	\N	\N	EFO	9	EFO	skeletal system disease	Brachydactyly of toes, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295134	"" []	7085999	\N	\N	EFO	11	EFO	disposition	Brachydactyly of toes, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295134	"" []	6925944	\N	\N	EFO	10	EFO	disease	Brachydactyly of toes, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295134	"" []	7204388	\N	\N	EFO	12	EFO	material property	Brachydactyly of toes, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295134	"" []	7286403	\N	\N	EFO	13	EFO	experimental factor	Brachydactyly of toes, bilateral
Orphanet:295136	\N	\N	"" []	Orphanet:295136	"" []	76034	\N	\N	EFO	0	EFO	Symbrachydactyly of hand and foot, unilateral	Symbrachydactyly of hand and foot, unilateral
Orphanet:1570	Orphanet:295136	\N	"" []	Orphanet:295136	"" []	218830	\N	\N	EFO	1	EFO	Symbrachydactyly of hands and feet	Symbrachydactyly of hand and foot, unilateral
Orphanet:294937	Orphanet:1570	\N	"" []	Orphanet:295136	"" []	574022	\N	\N	EFO	2	EFO	Brachydactyly	Symbrachydactyly of hand and foot, unilateral
Orphanet:294929	Orphanet:294937	\N	"" []	Orphanet:295136	"" []	1156707	\N	\N	EFO	3	EFO	Terminal limb defects	Symbrachydactyly of hand and foot, unilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295136	"" []	2039696	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Symbrachydactyly of hand and foot, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295136	"" []	3190014	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Symbrachydactyly of hand and foot, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295136	"" []	3190015	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Symbrachydactyly of hand and foot, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295136	"" []	4396930	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Symbrachydactyly of hand and foot, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295136	"" []	4396931	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Symbrachydactyly of hand and foot, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295136	"" []	5414554	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Symbrachydactyly of hand and foot, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295136	"" []	5414555	\N	\N	EFO	7	EFO	Rare genetic bone disease	Symbrachydactyly of hand and foot, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295136	"" []	5414556	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Symbrachydactyly of hand and foot, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295136	"" []	6633335	\N	\N	EFO	9	EFO	genetic disorder	Symbrachydactyly of hand and foot, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295136	"" []	6150756	\N	\N	EFO	8	EFO	genetic disorder	Symbrachydactyly of hand and foot, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295136	"" []	6150757	\N	\N	EFO	8	EFO	bone disease	Symbrachydactyly of hand and foot, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295136	"" []	6150758	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Symbrachydactyly of hand and foot, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295136	"" []	6889312	\N	\N	EFO	10	EFO	disease	Symbrachydactyly of hand and foot, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295136	"" []	6633334	\N	\N	EFO	9	EFO	skeletal system disease	Symbrachydactyly of hand and foot, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295136	"" []	7086000	\N	\N	EFO	11	EFO	disposition	Symbrachydactyly of hand and foot, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295136	"" []	6925946	\N	\N	EFO	10	EFO	disease	Symbrachydactyly of hand and foot, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295136	"" []	7204389	\N	\N	EFO	12	EFO	material property	Symbrachydactyly of hand and foot, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295136	"" []	7286404	\N	\N	EFO	13	EFO	experimental factor	Symbrachydactyly of hand and foot, unilateral
Orphanet:295138	\N	\N	"" []	Orphanet:295138	"" []	76035	\N	\N	EFO	0	EFO	Symbrachydactyly of hand and foot, bilateral	Symbrachydactyly of hand and foot, bilateral
Orphanet:1570	Orphanet:295138	\N	"" []	Orphanet:295138	"" []	218831	\N	\N	EFO	1	EFO	Symbrachydactyly of hands and feet	Symbrachydactyly of hand and foot, bilateral
Orphanet:294937	Orphanet:1570	\N	"" []	Orphanet:295138	"" []	574023	\N	\N	EFO	2	EFO	Brachydactyly	Symbrachydactyly of hand and foot, bilateral
Orphanet:294929	Orphanet:294937	\N	"" []	Orphanet:295138	"" []	1156708	\N	\N	EFO	3	EFO	Terminal limb defects	Symbrachydactyly of hand and foot, bilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:295138	"" []	2039697	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Symbrachydactyly of hand and foot, bilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:295138	"" []	3190016	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Symbrachydactyly of hand and foot, bilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:295138	"" []	3190017	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Symbrachydactyly of hand and foot, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295138	"" []	4396932	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Symbrachydactyly of hand and foot, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295138	"" []	4396933	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Symbrachydactyly of hand and foot, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295138	"" []	5414557	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Symbrachydactyly of hand and foot, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295138	"" []	5414558	\N	\N	EFO	7	EFO	Rare genetic bone disease	Symbrachydactyly of hand and foot, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295138	"" []	5414559	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Symbrachydactyly of hand and foot, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295138	"" []	6633338	\N	\N	EFO	9	EFO	genetic disorder	Symbrachydactyly of hand and foot, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295138	"" []	6150760	\N	\N	EFO	8	EFO	genetic disorder	Symbrachydactyly of hand and foot, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295138	"" []	6150761	\N	\N	EFO	8	EFO	bone disease	Symbrachydactyly of hand and foot, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295138	"" []	6150762	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Symbrachydactyly of hand and foot, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295138	"" []	6889313	\N	\N	EFO	10	EFO	disease	Symbrachydactyly of hand and foot, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295138	"" []	6633337	\N	\N	EFO	9	EFO	skeletal system disease	Symbrachydactyly of hand and foot, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295138	"" []	7086001	\N	\N	EFO	11	EFO	disposition	Symbrachydactyly of hand and foot, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295138	"" []	6925948	\N	\N	EFO	10	EFO	disease	Symbrachydactyly of hand and foot, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295138	"" []	7204390	\N	\N	EFO	12	EFO	material property	Symbrachydactyly of hand and foot, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295138	"" []	7286405	\N	\N	EFO	13	EFO	experimental factor	Symbrachydactyly of hand and foot, bilateral
Orphanet:295140	\N	\N	"" []	Orphanet:295140	"" []	76036	\N	\N	EFO	0	EFO	Hyperphalangy, unilateral	Hyperphalangy, unilateral
Orphanet:295002	Orphanet:295140	\N	"" []	Orphanet:295140	"" []	218832	\N	\N	EFO	1	EFO	Hyperphalangy	Hyperphalangy, unilateral
Orphanet:93458	Orphanet:295002	\N	"" []	Orphanet:295140	"" []	574024	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Hyperphalangy, unilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295140	"" []	1156709	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Hyperphalangy, unilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295140	"" []	1156710	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Hyperphalangy, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295140	"" []	2039698	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Hyperphalangy, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295140	"" []	2039699	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Hyperphalangy, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295140	"" []	3190018	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hyperphalangy, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295140	"" []	3190019	\N	\N	EFO	5	EFO	Rare genetic bone disease	Hyperphalangy, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295140	"" []	3190020	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Hyperphalangy, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295140	"" []	5414562	\N	\N	EFO	7	EFO	genetic disorder	Hyperphalangy, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295140	"" []	4396935	\N	\N	EFO	6	EFO	genetic disorder	Hyperphalangy, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295140	"" []	4396936	\N	\N	EFO	6	EFO	bone disease	Hyperphalangy, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295140	"" []	4396937	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Hyperphalangy, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295140	"" []	5997853	\N	\N	EFO	8	EFO	disease	Hyperphalangy, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295140	"" []	5414561	\N	\N	EFO	7	EFO	skeletal system disease	Hyperphalangy, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295140	"" []	6551184	\N	\N	EFO	9	EFO	disposition	Hyperphalangy, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295140	"" []	6150764	\N	\N	EFO	8	EFO	disease	Hyperphalangy, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295140	"" []	6889314	\N	\N	EFO	10	EFO	material property	Hyperphalangy, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295140	"" []	7086002	\N	\N	EFO	11	EFO	experimental factor	Hyperphalangy, unilateral
Orphanet:295142	\N	\N	"" []	Orphanet:295142	"" []	76037	\N	\N	EFO	0	EFO	Hyperphalangy, bilateral	Hyperphalangy, bilateral
Orphanet:295002	Orphanet:295142	\N	"" []	Orphanet:295142	"" []	218833	\N	\N	EFO	1	EFO	Hyperphalangy	Hyperphalangy, bilateral
Orphanet:93458	Orphanet:295002	\N	"" []	Orphanet:295142	"" []	574025	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Hyperphalangy, bilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295142	"" []	1156711	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Hyperphalangy, bilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295142	"" []	1156712	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Hyperphalangy, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295142	"" []	2039700	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Hyperphalangy, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295142	"" []	2039701	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Hyperphalangy, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295142	"" []	3190021	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hyperphalangy, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295142	"" []	3190022	\N	\N	EFO	5	EFO	Rare genetic bone disease	Hyperphalangy, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295142	"" []	3190023	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Hyperphalangy, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295142	"" []	5414565	\N	\N	EFO	7	EFO	genetic disorder	Hyperphalangy, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295142	"" []	4396939	\N	\N	EFO	6	EFO	genetic disorder	Hyperphalangy, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295142	"" []	4396940	\N	\N	EFO	6	EFO	bone disease	Hyperphalangy, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295142	"" []	4396941	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Hyperphalangy, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295142	"" []	5997854	\N	\N	EFO	8	EFO	disease	Hyperphalangy, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295142	"" []	5414564	\N	\N	EFO	7	EFO	skeletal system disease	Hyperphalangy, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295142	"" []	6551185	\N	\N	EFO	9	EFO	disposition	Hyperphalangy, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295142	"" []	6150766	\N	\N	EFO	8	EFO	disease	Hyperphalangy, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295142	"" []	6889315	\N	\N	EFO	10	EFO	material property	Hyperphalangy, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295142	"" []	7086003	\N	\N	EFO	11	EFO	experimental factor	Hyperphalangy, bilateral
Orphanet:295144	\N	\N	"" []	Orphanet:295144	"" []	76038	\N	\N	EFO	0	EFO	Polydactyly of a biphalangeal thumb, unilateral	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:93339	Orphanet:295144	\N	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	Orphanet:295144	"" []	218834	\N	\N	EFO	1	EFO	Polydactyly of a biphalangeal thumb	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:294939	Orphanet:93339	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:295144	"" []	574026	\N	\N	EFO	2	EFO	Preaxial polydactyly of fingers	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:295144	"" []	1156713	\N	\N	EFO	3	EFO	Polydactyly	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295144	"" []	2039702	\N	\N	EFO	4	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295144	"" []	3190024	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295144	"" []	3190025	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295144	"" []	4396942	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295144	"" []	4396943	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295144	"" []	5414566	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295144	"" []	5414567	\N	\N	EFO	7	EFO	Rare genetic bone disease	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295144	"" []	5414568	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Polydactyly of a biphalangeal thumb, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295144	"" []	6633343	\N	\N	EFO	9	EFO	genetic disorder	Polydactyly of a biphalangeal thumb, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295144	"" []	6150768	\N	\N	EFO	8	EFO	genetic disorder	Polydactyly of a biphalangeal thumb, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295144	"" []	6150769	\N	\N	EFO	8	EFO	bone disease	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295144	"" []	6150770	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of a biphalangeal thumb, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295144	"" []	6889316	\N	\N	EFO	10	EFO	disease	Polydactyly of a biphalangeal thumb, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295144	"" []	6633342	\N	\N	EFO	9	EFO	skeletal system disease	Polydactyly of a biphalangeal thumb, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295144	"" []	7086004	\N	\N	EFO	11	EFO	disposition	Polydactyly of a biphalangeal thumb, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295144	"" []	6925952	\N	\N	EFO	10	EFO	disease	Polydactyly of a biphalangeal thumb, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295144	"" []	7204391	\N	\N	EFO	12	EFO	material property	Polydactyly of a biphalangeal thumb, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295144	"" []	7286406	\N	\N	EFO	13	EFO	experimental factor	Polydactyly of a biphalangeal thumb, unilateral
Orphanet:295146	\N	\N	"" []	Orphanet:295146	"" []	76039	\N	\N	EFO	0	EFO	Polydactyly of a biphalangeal thumb, bilateral	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:93339	Orphanet:295146	\N	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	Orphanet:295146	"" []	218835	\N	\N	EFO	1	EFO	Polydactyly of a biphalangeal thumb	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:294939	Orphanet:93339	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:295146	"" []	574027	\N	\N	EFO	2	EFO	Preaxial polydactyly of fingers	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:295146	"" []	1156714	\N	\N	EFO	3	EFO	Polydactyly	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295146	"" []	2039703	\N	\N	EFO	4	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295146	"" []	3190026	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295146	"" []	3190027	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295146	"" []	4396944	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295146	"" []	4396945	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295146	"" []	5414569	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295146	"" []	5414570	\N	\N	EFO	7	EFO	Rare genetic bone disease	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295146	"" []	5414571	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Polydactyly of a biphalangeal thumb, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295146	"" []	6633346	\N	\N	EFO	9	EFO	genetic disorder	Polydactyly of a biphalangeal thumb, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295146	"" []	6150772	\N	\N	EFO	8	EFO	genetic disorder	Polydactyly of a biphalangeal thumb, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295146	"" []	6150773	\N	\N	EFO	8	EFO	bone disease	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295146	"" []	6150774	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of a biphalangeal thumb, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295146	"" []	6889317	\N	\N	EFO	10	EFO	disease	Polydactyly of a biphalangeal thumb, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295146	"" []	6633345	\N	\N	EFO	9	EFO	skeletal system disease	Polydactyly of a biphalangeal thumb, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295146	"" []	7086005	\N	\N	EFO	11	EFO	disposition	Polydactyly of a biphalangeal thumb, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295146	"" []	6925954	\N	\N	EFO	10	EFO	disease	Polydactyly of a biphalangeal thumb, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295146	"" []	7204392	\N	\N	EFO	12	EFO	material property	Polydactyly of a biphalangeal thumb, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295146	"" []	7286407	\N	\N	EFO	13	EFO	experimental factor	Polydactyly of a biphalangeal thumb, bilateral
Orphanet:295148	\N	\N	"" []	Orphanet:295148	"" []	76040	\N	\N	EFO	0	EFO	Polydactyly of a triphalangeal thumb, unilateral	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:93336	Orphanet:295148	\N	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	Orphanet:295148	"" []	218836	\N	\N	EFO	1	EFO	Polydactyly of a triphalangeal thumb	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:294939	Orphanet:93336	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:295148	"" []	574028	\N	\N	EFO	2	EFO	Preaxial polydactyly of fingers	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:295148	"" []	1156715	\N	\N	EFO	3	EFO	Polydactyly	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295148	"" []	2039704	\N	\N	EFO	4	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295148	"" []	3190028	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295148	"" []	3190029	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295148	"" []	4396946	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295148	"" []	4396947	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295148	"" []	5414572	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295148	"" []	5414573	\N	\N	EFO	7	EFO	Rare genetic bone disease	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295148	"" []	5414574	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Polydactyly of a triphalangeal thumb, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295148	"" []	6633349	\N	\N	EFO	9	EFO	genetic disorder	Polydactyly of a triphalangeal thumb, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295148	"" []	6150776	\N	\N	EFO	8	EFO	genetic disorder	Polydactyly of a triphalangeal thumb, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295148	"" []	6150777	\N	\N	EFO	8	EFO	bone disease	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295148	"" []	6150778	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of a triphalangeal thumb, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295148	"" []	6889318	\N	\N	EFO	10	EFO	disease	Polydactyly of a triphalangeal thumb, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295148	"" []	6633348	\N	\N	EFO	9	EFO	skeletal system disease	Polydactyly of a triphalangeal thumb, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295148	"" []	7086006	\N	\N	EFO	11	EFO	disposition	Polydactyly of a triphalangeal thumb, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295148	"" []	6925956	\N	\N	EFO	10	EFO	disease	Polydactyly of a triphalangeal thumb, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295148	"" []	7204393	\N	\N	EFO	12	EFO	material property	Polydactyly of a triphalangeal thumb, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295148	"" []	7286408	\N	\N	EFO	13	EFO	experimental factor	Polydactyly of a triphalangeal thumb, unilateral
Orphanet:295150	\N	\N	"" []	Orphanet:295150	"" []	76041	\N	\N	EFO	0	EFO	Polydactyly of a triphalangeal thumb, bilateral	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:93336	Orphanet:295150	\N	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	Orphanet:295150	"" []	218837	\N	\N	EFO	1	EFO	Polydactyly of a triphalangeal thumb	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:294939	Orphanet:93336	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:295150	"" []	574029	\N	\N	EFO	2	EFO	Preaxial polydactyly of fingers	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:295150	"" []	1156716	\N	\N	EFO	3	EFO	Polydactyly	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295150	"" []	2039705	\N	\N	EFO	4	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295150	"" []	3190030	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295150	"" []	3190031	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295150	"" []	4396948	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295150	"" []	4396949	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295150	"" []	5414575	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295150	"" []	5414576	\N	\N	EFO	7	EFO	Rare genetic bone disease	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295150	"" []	5414577	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Polydactyly of a triphalangeal thumb, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295150	"" []	6633352	\N	\N	EFO	9	EFO	genetic disorder	Polydactyly of a triphalangeal thumb, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295150	"" []	6150780	\N	\N	EFO	8	EFO	genetic disorder	Polydactyly of a triphalangeal thumb, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295150	"" []	6150781	\N	\N	EFO	8	EFO	bone disease	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295150	"" []	6150782	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of a triphalangeal thumb, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295150	"" []	6889319	\N	\N	EFO	10	EFO	disease	Polydactyly of a triphalangeal thumb, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295150	"" []	6633351	\N	\N	EFO	9	EFO	skeletal system disease	Polydactyly of a triphalangeal thumb, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295150	"" []	7086007	\N	\N	EFO	11	EFO	disposition	Polydactyly of a triphalangeal thumb, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295150	"" []	6925958	\N	\N	EFO	10	EFO	disease	Polydactyly of a triphalangeal thumb, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295150	"" []	7204394	\N	\N	EFO	12	EFO	material property	Polydactyly of a triphalangeal thumb, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295150	"" []	7286409	\N	\N	EFO	13	EFO	experimental factor	Polydactyly of a triphalangeal thumb, bilateral
Orphanet:295152	\N	\N	"" []	Orphanet:295152	"" []	76042	\N	\N	EFO	0	EFO	Polydactyly of an index finger, unilateral	Polydactyly of an index finger, unilateral
Orphanet:93337	Orphanet:295152	\N	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	Orphanet:295152	"" []	218838	\N	\N	EFO	1	EFO	Polydactyly of an index finger	Polydactyly of an index finger, unilateral
Orphanet:294939	Orphanet:93337	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:295152	"" []	574030	\N	\N	EFO	2	EFO	Preaxial polydactyly of fingers	Polydactyly of an index finger, unilateral
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:295152	"" []	1156717	\N	\N	EFO	3	EFO	Polydactyly	Polydactyly of an index finger, unilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295152	"" []	2039706	\N	\N	EFO	4	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polydactyly of an index finger, unilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295152	"" []	3190032	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Polydactyly of an index finger, unilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295152	"" []	3190033	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polydactyly of an index finger, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295152	"" []	4396950	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Polydactyly of an index finger, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295152	"" []	4396951	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Polydactyly of an index finger, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295152	"" []	5414578	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of an index finger, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295152	"" []	5414579	\N	\N	EFO	7	EFO	Rare genetic bone disease	Polydactyly of an index finger, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295152	"" []	5414580	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Polydactyly of an index finger, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295152	"" []	6633355	\N	\N	EFO	9	EFO	genetic disorder	Polydactyly of an index finger, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295152	"" []	6150784	\N	\N	EFO	8	EFO	genetic disorder	Polydactyly of an index finger, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295152	"" []	6150785	\N	\N	EFO	8	EFO	bone disease	Polydactyly of an index finger, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295152	"" []	6150786	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of an index finger, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295152	"" []	6889320	\N	\N	EFO	10	EFO	disease	Polydactyly of an index finger, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295152	"" []	6633354	\N	\N	EFO	9	EFO	skeletal system disease	Polydactyly of an index finger, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295152	"" []	7086008	\N	\N	EFO	11	EFO	disposition	Polydactyly of an index finger, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295152	"" []	6925960	\N	\N	EFO	10	EFO	disease	Polydactyly of an index finger, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295152	"" []	7204395	\N	\N	EFO	12	EFO	material property	Polydactyly of an index finger, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295152	"" []	7286410	\N	\N	EFO	13	EFO	experimental factor	Polydactyly of an index finger, unilateral
Orphanet:295154	\N	\N	"" []	Orphanet:295154	"" []	76043	\N	\N	EFO	0	EFO	Polydactyly of an index finger, bilateral	Polydactyly of an index finger, bilateral
Orphanet:93337	Orphanet:295154	\N	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	Orphanet:295154	"" []	218839	\N	\N	EFO	1	EFO	Polydactyly of an index finger	Polydactyly of an index finger, bilateral
Orphanet:294939	Orphanet:93337	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:295154	"" []	574031	\N	\N	EFO	2	EFO	Preaxial polydactyly of fingers	Polydactyly of an index finger, bilateral
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:295154	"" []	1156718	\N	\N	EFO	3	EFO	Polydactyly	Polydactyly of an index finger, bilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295154	"" []	2039707	\N	\N	EFO	4	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polydactyly of an index finger, bilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295154	"" []	3190034	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Polydactyly of an index finger, bilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295154	"" []	3190035	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polydactyly of an index finger, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295154	"" []	4396952	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Polydactyly of an index finger, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295154	"" []	4396953	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Polydactyly of an index finger, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295154	"" []	5414581	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of an index finger, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295154	"" []	5414582	\N	\N	EFO	7	EFO	Rare genetic bone disease	Polydactyly of an index finger, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295154	"" []	5414583	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Polydactyly of an index finger, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295154	"" []	6633358	\N	\N	EFO	9	EFO	genetic disorder	Polydactyly of an index finger, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295154	"" []	6150788	\N	\N	EFO	8	EFO	genetic disorder	Polydactyly of an index finger, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295154	"" []	6150789	\N	\N	EFO	8	EFO	bone disease	Polydactyly of an index finger, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295154	"" []	6150790	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of an index finger, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295154	"" []	6889321	\N	\N	EFO	10	EFO	disease	Polydactyly of an index finger, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295154	"" []	6633357	\N	\N	EFO	9	EFO	skeletal system disease	Polydactyly of an index finger, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295154	"" []	7086009	\N	\N	EFO	11	EFO	disposition	Polydactyly of an index finger, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295154	"" []	6925962	\N	\N	EFO	10	EFO	disease	Polydactyly of an index finger, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295154	"" []	7204396	\N	\N	EFO	12	EFO	material property	Polydactyly of an index finger, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295154	"" []	7286411	\N	\N	EFO	13	EFO	experimental factor	Polydactyly of an index finger, bilateral
Orphanet:295159	\N	\N	"" []	Orphanet:295159	"" []	76044	\N	\N	EFO	0	EFO	Polysyndactyly, unilateral	Polysyndactyly, unilateral
Orphanet:93338	Orphanet:295159	\N	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	Orphanet:295159	"" []	218840	\N	\N	EFO	1	EFO	Polysyndactyly	Polysyndactyly, unilateral
Orphanet:294939	Orphanet:93338	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:295159	"" []	574032	\N	\N	EFO	2	EFO	Preaxial polydactyly of fingers	Polysyndactyly, unilateral
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:295159	"" []	1156719	\N	\N	EFO	3	EFO	Polydactyly	Polysyndactyly, unilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295159	"" []	2039708	\N	\N	EFO	4	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polysyndactyly, unilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295159	"" []	3190036	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Polysyndactyly, unilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295159	"" []	3190037	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polysyndactyly, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295159	"" []	4396954	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Polysyndactyly, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295159	"" []	4396955	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Polysyndactyly, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295159	"" []	5414584	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Polysyndactyly, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295159	"" []	5414585	\N	\N	EFO	7	EFO	Rare genetic bone disease	Polysyndactyly, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295159	"" []	5414586	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Polysyndactyly, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295159	"" []	6633361	\N	\N	EFO	9	EFO	genetic disorder	Polysyndactyly, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295159	"" []	6150792	\N	\N	EFO	8	EFO	genetic disorder	Polysyndactyly, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295159	"" []	6150793	\N	\N	EFO	8	EFO	bone disease	Polysyndactyly, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295159	"" []	6150794	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Polysyndactyly, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295159	"" []	6889322	\N	\N	EFO	10	EFO	disease	Polysyndactyly, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295159	"" []	6633360	\N	\N	EFO	9	EFO	skeletal system disease	Polysyndactyly, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295159	"" []	7086010	\N	\N	EFO	11	EFO	disposition	Polysyndactyly, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295159	"" []	6925964	\N	\N	EFO	10	EFO	disease	Polysyndactyly, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295159	"" []	7204397	\N	\N	EFO	12	EFO	material property	Polysyndactyly, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295159	"" []	7286412	\N	\N	EFO	13	EFO	experimental factor	Polysyndactyly, unilateral
Orphanet:295161	\N	\N	"" []	Orphanet:295161	"" []	76045	\N	\N	EFO	0	EFO	Polysyndactyly, bilateral	Polysyndactyly, bilateral
Orphanet:93338	Orphanet:295161	\N	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	Orphanet:295161	"" []	218841	\N	\N	EFO	1	EFO	Polysyndactyly	Polysyndactyly, bilateral
Orphanet:294939	Orphanet:93338	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:295161	"" []	574033	\N	\N	EFO	2	EFO	Preaxial polydactyly of fingers	Polysyndactyly, bilateral
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:295161	"" []	1156720	\N	\N	EFO	3	EFO	Polydactyly	Polysyndactyly, bilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295161	"" []	2039709	\N	\N	EFO	4	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polysyndactyly, bilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295161	"" []	3190038	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Polysyndactyly, bilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295161	"" []	3190039	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polysyndactyly, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295161	"" []	4396956	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Polysyndactyly, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295161	"" []	4396957	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Polysyndactyly, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295161	"" []	5414587	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Polysyndactyly, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295161	"" []	5414588	\N	\N	EFO	7	EFO	Rare genetic bone disease	Polysyndactyly, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295161	"" []	5414589	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Polysyndactyly, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295161	"" []	6633364	\N	\N	EFO	9	EFO	genetic disorder	Polysyndactyly, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295161	"" []	6150796	\N	\N	EFO	8	EFO	genetic disorder	Polysyndactyly, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295161	"" []	6150797	\N	\N	EFO	8	EFO	bone disease	Polysyndactyly, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295161	"" []	6150798	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Polysyndactyly, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295161	"" []	6889323	\N	\N	EFO	10	EFO	disease	Polysyndactyly, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295161	"" []	6633363	\N	\N	EFO	9	EFO	skeletal system disease	Polysyndactyly, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295161	"" []	7086011	\N	\N	EFO	11	EFO	disposition	Polysyndactyly, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295161	"" []	6925966	\N	\N	EFO	10	EFO	disease	Polysyndactyly, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295161	"" []	7204398	\N	\N	EFO	12	EFO	material property	Polysyndactyly, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295161	"" []	7286413	\N	\N	EFO	13	EFO	experimental factor	Polysyndactyly, bilateral
Orphanet:295163	\N	\N	"" []	Orphanet:295163	"" []	76046	\N	\N	EFO	0	EFO	Postaxial polydactyly type A, unilateral	Postaxial polydactyly type A, unilateral
Orphanet:93334	Orphanet:295163	\N	"" []	Orphanet:295163	"" []	218842	\N	\N	EFO	1	EFO	Postaxial polydactyly type A	Postaxial polydactyly type A, unilateral
Orphanet:294942	Orphanet:93334	\N	"" []	Orphanet:295163	"" []	574034	\N	\N	EFO	2	EFO	Postaxial polydactyly of fingers	Postaxial polydactyly type A, unilateral
Orphanet:2913	Orphanet:294942	\N	"" []	Orphanet:295163	"" []	1156721	\N	\N	EFO	3	EFO	Polydactyly	Postaxial polydactyly type A, unilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295163	"" []	2039710	\N	\N	EFO	4	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Postaxial polydactyly type A, unilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295163	"" []	3190040	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Postaxial polydactyly type A, unilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295163	"" []	3190041	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial polydactyly type A, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295163	"" []	4396958	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Postaxial polydactyly type A, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295163	"" []	4396959	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Postaxial polydactyly type A, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295163	"" []	5414590	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly type A, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295163	"" []	5414591	\N	\N	EFO	7	EFO	Rare genetic bone disease	Postaxial polydactyly type A, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295163	"" []	5414592	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Postaxial polydactyly type A, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295163	"" []	6633367	\N	\N	EFO	9	EFO	genetic disorder	Postaxial polydactyly type A, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295163	"" []	6150800	\N	\N	EFO	8	EFO	genetic disorder	Postaxial polydactyly type A, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295163	"" []	6150801	\N	\N	EFO	8	EFO	bone disease	Postaxial polydactyly type A, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295163	"" []	6150802	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly type A, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295163	"" []	6889324	\N	\N	EFO	10	EFO	disease	Postaxial polydactyly type A, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295163	"" []	6633366	\N	\N	EFO	9	EFO	skeletal system disease	Postaxial polydactyly type A, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295163	"" []	7086012	\N	\N	EFO	11	EFO	disposition	Postaxial polydactyly type A, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295163	"" []	6925968	\N	\N	EFO	10	EFO	disease	Postaxial polydactyly type A, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295163	"" []	7204399	\N	\N	EFO	12	EFO	material property	Postaxial polydactyly type A, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295163	"" []	7286414	\N	\N	EFO	13	EFO	experimental factor	Postaxial polydactyly type A, unilateral
Orphanet:295165	\N	\N	"" []	Orphanet:295165	"" []	76047	\N	\N	EFO	0	EFO	Postaxial polydactyly type A, bilateral	Postaxial polydactyly type A, bilateral
Orphanet:93334	Orphanet:295165	\N	"" []	Orphanet:295165	"" []	218843	\N	\N	EFO	1	EFO	Postaxial polydactyly type A	Postaxial polydactyly type A, bilateral
Orphanet:294942	Orphanet:93334	\N	"" []	Orphanet:295165	"" []	574035	\N	\N	EFO	2	EFO	Postaxial polydactyly of fingers	Postaxial polydactyly type A, bilateral
Orphanet:2913	Orphanet:294942	\N	"" []	Orphanet:295165	"" []	1156722	\N	\N	EFO	3	EFO	Polydactyly	Postaxial polydactyly type A, bilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295165	"" []	2039711	\N	\N	EFO	4	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Postaxial polydactyly type A, bilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295165	"" []	3190042	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Postaxial polydactyly type A, bilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295165	"" []	3190043	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial polydactyly type A, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295165	"" []	4396960	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Postaxial polydactyly type A, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295165	"" []	4396961	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Postaxial polydactyly type A, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295165	"" []	5414593	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly type A, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295165	"" []	5414594	\N	\N	EFO	7	EFO	Rare genetic bone disease	Postaxial polydactyly type A, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295165	"" []	5414595	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Postaxial polydactyly type A, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295165	"" []	6633370	\N	\N	EFO	9	EFO	genetic disorder	Postaxial polydactyly type A, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295165	"" []	6150804	\N	\N	EFO	8	EFO	genetic disorder	Postaxial polydactyly type A, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295165	"" []	6150805	\N	\N	EFO	8	EFO	bone disease	Postaxial polydactyly type A, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295165	"" []	6150806	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly type A, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295165	"" []	6889325	\N	\N	EFO	10	EFO	disease	Postaxial polydactyly type A, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295165	"" []	6633369	\N	\N	EFO	9	EFO	skeletal system disease	Postaxial polydactyly type A, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295165	"" []	7086013	\N	\N	EFO	11	EFO	disposition	Postaxial polydactyly type A, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295165	"" []	6925970	\N	\N	EFO	10	EFO	disease	Postaxial polydactyly type A, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295165	"" []	7204400	\N	\N	EFO	12	EFO	material property	Postaxial polydactyly type A, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295165	"" []	7286415	\N	\N	EFO	13	EFO	experimental factor	Postaxial polydactyly type A, bilateral
Orphanet:295167	\N	\N	"" []	Orphanet:295167	"" []	76048	\N	\N	EFO	0	EFO	Postaxial polydactyly type B, unilateral	Postaxial polydactyly type B, unilateral
Orphanet:93335	Orphanet:295167	\N	"" []	Orphanet:295167	"" []	218844	\N	\N	EFO	1	EFO	Postaxial polydactyly type B	Postaxial polydactyly type B, unilateral
Orphanet:294942	Orphanet:93335	\N	"" []	Orphanet:295167	"" []	574036	\N	\N	EFO	2	EFO	Postaxial polydactyly of fingers	Postaxial polydactyly type B, unilateral
Orphanet:2913	Orphanet:294942	\N	"" []	Orphanet:295167	"" []	1156723	\N	\N	EFO	3	EFO	Polydactyly	Postaxial polydactyly type B, unilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295167	"" []	2039712	\N	\N	EFO	4	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Postaxial polydactyly type B, unilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295167	"" []	3190044	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Postaxial polydactyly type B, unilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295167	"" []	3190045	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial polydactyly type B, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295167	"" []	4396962	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Postaxial polydactyly type B, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295167	"" []	4396963	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Postaxial polydactyly type B, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295167	"" []	5414596	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly type B, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295167	"" []	5414597	\N	\N	EFO	7	EFO	Rare genetic bone disease	Postaxial polydactyly type B, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295167	"" []	5414598	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Postaxial polydactyly type B, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295167	"" []	6633373	\N	\N	EFO	9	EFO	genetic disorder	Postaxial polydactyly type B, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295167	"" []	6150808	\N	\N	EFO	8	EFO	genetic disorder	Postaxial polydactyly type B, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295167	"" []	6150809	\N	\N	EFO	8	EFO	bone disease	Postaxial polydactyly type B, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295167	"" []	6150810	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly type B, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295167	"" []	6889326	\N	\N	EFO	10	EFO	disease	Postaxial polydactyly type B, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295167	"" []	6633372	\N	\N	EFO	9	EFO	skeletal system disease	Postaxial polydactyly type B, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295167	"" []	7086014	\N	\N	EFO	11	EFO	disposition	Postaxial polydactyly type B, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295167	"" []	6925972	\N	\N	EFO	10	EFO	disease	Postaxial polydactyly type B, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295167	"" []	7204401	\N	\N	EFO	12	EFO	material property	Postaxial polydactyly type B, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295167	"" []	7286416	\N	\N	EFO	13	EFO	experimental factor	Postaxial polydactyly type B, unilateral
Orphanet:295169	\N	\N	"" []	Orphanet:295169	"" []	76049	\N	\N	EFO	0	EFO	Postaxial polydactyly type B, bilateral	Postaxial polydactyly type B, bilateral
Orphanet:93335	Orphanet:295169	\N	"" []	Orphanet:295169	"" []	218845	\N	\N	EFO	1	EFO	Postaxial polydactyly type B	Postaxial polydactyly type B, bilateral
Orphanet:294942	Orphanet:93335	\N	"" []	Orphanet:295169	"" []	574037	\N	\N	EFO	2	EFO	Postaxial polydactyly of fingers	Postaxial polydactyly type B, bilateral
Orphanet:2913	Orphanet:294942	\N	"" []	Orphanet:295169	"" []	1156724	\N	\N	EFO	3	EFO	Polydactyly	Postaxial polydactyly type B, bilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295169	"" []	2039713	\N	\N	EFO	4	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Postaxial polydactyly type B, bilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295169	"" []	3190046	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Postaxial polydactyly type B, bilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295169	"" []	3190047	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial polydactyly type B, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295169	"" []	4396964	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Postaxial polydactyly type B, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295169	"" []	4396965	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Postaxial polydactyly type B, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295169	"" []	5414599	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly type B, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295169	"" []	5414600	\N	\N	EFO	7	EFO	Rare genetic bone disease	Postaxial polydactyly type B, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295169	"" []	5414601	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Postaxial polydactyly type B, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295169	"" []	6633376	\N	\N	EFO	9	EFO	genetic disorder	Postaxial polydactyly type B, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295169	"" []	6150812	\N	\N	EFO	8	EFO	genetic disorder	Postaxial polydactyly type B, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295169	"" []	6150813	\N	\N	EFO	8	EFO	bone disease	Postaxial polydactyly type B, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295169	"" []	6150814	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly type B, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295169	"" []	6889327	\N	\N	EFO	10	EFO	disease	Postaxial polydactyly type B, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295169	"" []	6633375	\N	\N	EFO	9	EFO	skeletal system disease	Postaxial polydactyly type B, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295169	"" []	7086015	\N	\N	EFO	11	EFO	disposition	Postaxial polydactyly type B, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295169	"" []	6925974	\N	\N	EFO	10	EFO	disease	Postaxial polydactyly type B, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295169	"" []	7204402	\N	\N	EFO	12	EFO	material property	Postaxial polydactyly type B, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295169	"" []	7286417	\N	\N	EFO	13	EFO	experimental factor	Postaxial polydactyly type B, bilateral
Orphanet:295171	\N	\N	"" []	Orphanet:295171	"" []	76050	\N	\N	EFO	0	EFO	Central polydactyly of fingers, unilateral	Central polydactyly of fingers, unilateral
Orphanet:295004	Orphanet:295171	\N	"" []	Orphanet:295171	"" []	218846	\N	\N	EFO	1	EFO	Central polydactyly of fingers	Central polydactyly of fingers, unilateral
Orphanet:2913	Orphanet:295004	\N	"" []	Orphanet:295171	"" []	574038	\N	\N	EFO	2	EFO	Polydactyly	Central polydactyly of fingers, unilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295171	"" []	1156725	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Central polydactyly of fingers, unilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295171	"" []	2039714	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Central polydactyly of fingers, unilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295171	"" []	2039715	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Central polydactyly of fingers, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295171	"" []	3190048	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Central polydactyly of fingers, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295171	"" []	3190049	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Central polydactyly of fingers, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295171	"" []	4396966	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Central polydactyly of fingers, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295171	"" []	4396967	\N	\N	EFO	6	EFO	Rare genetic bone disease	Central polydactyly of fingers, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295171	"" []	4396968	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Central polydactyly of fingers, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295171	"" []	6150817	\N	\N	EFO	8	EFO	genetic disorder	Central polydactyly of fingers, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295171	"" []	5414603	\N	\N	EFO	7	EFO	genetic disorder	Central polydactyly of fingers, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295171	"" []	5414604	\N	\N	EFO	7	EFO	bone disease	Central polydactyly of fingers, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295171	"" []	5414605	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Central polydactyly of fingers, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295171	"" []	6551186	\N	\N	EFO	9	EFO	disease	Central polydactyly of fingers, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295171	"" []	6150816	\N	\N	EFO	8	EFO	skeletal system disease	Central polydactyly of fingers, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295171	"" []	6889328	\N	\N	EFO	10	EFO	disposition	Central polydactyly of fingers, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295171	"" []	6633378	\N	\N	EFO	9	EFO	disease	Central polydactyly of fingers, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295171	"" []	7086016	\N	\N	EFO	11	EFO	material property	Central polydactyly of fingers, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295171	"" []	7204403	\N	\N	EFO	12	EFO	experimental factor	Central polydactyly of fingers, unilateral
Orphanet:295173	\N	\N	"" []	Orphanet:295173	"" []	76051	\N	\N	EFO	0	EFO	Central polydactyly of fingers, bilateral	Central polydactyly of fingers, bilateral
Orphanet:295004	Orphanet:295173	\N	"" []	Orphanet:295173	"" []	218847	\N	\N	EFO	1	EFO	Central polydactyly of fingers	Central polydactyly of fingers, bilateral
Orphanet:2913	Orphanet:295004	\N	"" []	Orphanet:295173	"" []	574039	\N	\N	EFO	2	EFO	Polydactyly	Central polydactyly of fingers, bilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295173	"" []	1156726	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Central polydactyly of fingers, bilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295173	"" []	2039716	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Central polydactyly of fingers, bilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295173	"" []	2039717	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Central polydactyly of fingers, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295173	"" []	3190050	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Central polydactyly of fingers, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295173	"" []	3190051	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Central polydactyly of fingers, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295173	"" []	4396969	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Central polydactyly of fingers, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295173	"" []	4396970	\N	\N	EFO	6	EFO	Rare genetic bone disease	Central polydactyly of fingers, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295173	"" []	4396971	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Central polydactyly of fingers, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295173	"" []	6150820	\N	\N	EFO	8	EFO	genetic disorder	Central polydactyly of fingers, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295173	"" []	5414607	\N	\N	EFO	7	EFO	genetic disorder	Central polydactyly of fingers, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295173	"" []	5414608	\N	\N	EFO	7	EFO	bone disease	Central polydactyly of fingers, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295173	"" []	5414609	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Central polydactyly of fingers, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295173	"" []	6551187	\N	\N	EFO	9	EFO	disease	Central polydactyly of fingers, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295173	"" []	6150819	\N	\N	EFO	8	EFO	skeletal system disease	Central polydactyly of fingers, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295173	"" []	6889329	\N	\N	EFO	10	EFO	disposition	Central polydactyly of fingers, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295173	"" []	6633380	\N	\N	EFO	9	EFO	disease	Central polydactyly of fingers, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295173	"" []	7086017	\N	\N	EFO	11	EFO	material property	Central polydactyly of fingers, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295173	"" []	7204404	\N	\N	EFO	12	EFO	experimental factor	Central polydactyly of fingers, bilateral
Orphanet:295175	\N	\N	"" []	Orphanet:295175	"" []	76052	\N	\N	EFO	0	EFO	Preaxial polydactyly of toes, unilateral	Preaxial polydactyly of toes, unilateral
Orphanet:295006	Orphanet:295175	\N	"" []	Orphanet:295175	"" []	218848	\N	\N	EFO	1	EFO	Preaxial polydactyly of toes	Preaxial polydactyly of toes, unilateral
Orphanet:2913	Orphanet:295006	\N	"" []	Orphanet:295175	"" []	574040	\N	\N	EFO	2	EFO	Polydactyly	Preaxial polydactyly of toes, unilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295175	"" []	1156727	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Preaxial polydactyly of toes, unilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295175	"" []	2039718	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Preaxial polydactyly of toes, unilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295175	"" []	2039719	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Preaxial polydactyly of toes, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295175	"" []	3190052	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Preaxial polydactyly of toes, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295175	"" []	3190053	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Preaxial polydactyly of toes, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295175	"" []	4396972	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Preaxial polydactyly of toes, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295175	"" []	4396973	\N	\N	EFO	6	EFO	Rare genetic bone disease	Preaxial polydactyly of toes, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295175	"" []	4396974	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Preaxial polydactyly of toes, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295175	"" []	6150823	\N	\N	EFO	8	EFO	genetic disorder	Preaxial polydactyly of toes, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295175	"" []	5414611	\N	\N	EFO	7	EFO	genetic disorder	Preaxial polydactyly of toes, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295175	"" []	5414612	\N	\N	EFO	7	EFO	bone disease	Preaxial polydactyly of toes, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295175	"" []	5414613	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Preaxial polydactyly of toes, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295175	"" []	6551188	\N	\N	EFO	9	EFO	disease	Preaxial polydactyly of toes, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295175	"" []	6150822	\N	\N	EFO	8	EFO	skeletal system disease	Preaxial polydactyly of toes, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295175	"" []	6889330	\N	\N	EFO	10	EFO	disposition	Preaxial polydactyly of toes, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295175	"" []	6633382	\N	\N	EFO	9	EFO	disease	Preaxial polydactyly of toes, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295175	"" []	7086018	\N	\N	EFO	11	EFO	material property	Preaxial polydactyly of toes, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295175	"" []	7204405	\N	\N	EFO	12	EFO	experimental factor	Preaxial polydactyly of toes, unilateral
Orphanet:295177	\N	\N	"" []	Orphanet:295177	"" []	76053	\N	\N	EFO	0	EFO	Preaxial polydactyly of toes, bilateral	Preaxial polydactyly of toes, bilateral
Orphanet:295006	Orphanet:295177	\N	"" []	Orphanet:295177	"" []	218849	\N	\N	EFO	1	EFO	Preaxial polydactyly of toes	Preaxial polydactyly of toes, bilateral
Orphanet:2913	Orphanet:295006	\N	"" []	Orphanet:295177	"" []	574041	\N	\N	EFO	2	EFO	Polydactyly	Preaxial polydactyly of toes, bilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295177	"" []	1156728	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Preaxial polydactyly of toes, bilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295177	"" []	2039720	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Preaxial polydactyly of toes, bilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295177	"" []	2039721	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Preaxial polydactyly of toes, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295177	"" []	3190054	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Preaxial polydactyly of toes, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295177	"" []	3190055	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Preaxial polydactyly of toes, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295177	"" []	4396975	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Preaxial polydactyly of toes, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295177	"" []	4396976	\N	\N	EFO	6	EFO	Rare genetic bone disease	Preaxial polydactyly of toes, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295177	"" []	4396977	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Preaxial polydactyly of toes, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295177	"" []	6150826	\N	\N	EFO	8	EFO	genetic disorder	Preaxial polydactyly of toes, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295177	"" []	5414615	\N	\N	EFO	7	EFO	genetic disorder	Preaxial polydactyly of toes, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295177	"" []	5414616	\N	\N	EFO	7	EFO	bone disease	Preaxial polydactyly of toes, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295177	"" []	5414617	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Preaxial polydactyly of toes, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295177	"" []	6551189	\N	\N	EFO	9	EFO	disease	Preaxial polydactyly of toes, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295177	"" []	6150825	\N	\N	EFO	8	EFO	skeletal system disease	Preaxial polydactyly of toes, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295177	"" []	6889331	\N	\N	EFO	10	EFO	disposition	Preaxial polydactyly of toes, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295177	"" []	6633384	\N	\N	EFO	9	EFO	disease	Preaxial polydactyly of toes, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295177	"" []	7086019	\N	\N	EFO	11	EFO	material property	Preaxial polydactyly of toes, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295177	"" []	7204406	\N	\N	EFO	12	EFO	experimental factor	Preaxial polydactyly of toes, bilateral
Orphanet:295179	\N	\N	"" []	Orphanet:295179	"" []	76054	\N	\N	EFO	0	EFO	Postaxial polydactyly of toes, unilateral	Postaxial polydactyly of toes, unilateral
Orphanet:295008	Orphanet:295179	\N	"" []	Orphanet:295179	"" []	218850	\N	\N	EFO	1	EFO	Postaxial polydactyly of toes	Postaxial polydactyly of toes, unilateral
Orphanet:2913	Orphanet:295008	\N	"" []	Orphanet:295179	"" []	574042	\N	\N	EFO	2	EFO	Polydactyly	Postaxial polydactyly of toes, unilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295179	"" []	1156729	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Postaxial polydactyly of toes, unilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295179	"" []	2039722	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Postaxial polydactyly of toes, unilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295179	"" []	2039723	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial polydactyly of toes, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295179	"" []	3190056	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Postaxial polydactyly of toes, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295179	"" []	3190057	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Postaxial polydactyly of toes, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295179	"" []	4396978	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly of toes, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295179	"" []	4396979	\N	\N	EFO	6	EFO	Rare genetic bone disease	Postaxial polydactyly of toes, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295179	"" []	4396980	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Postaxial polydactyly of toes, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295179	"" []	6150829	\N	\N	EFO	8	EFO	genetic disorder	Postaxial polydactyly of toes, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295179	"" []	5414619	\N	\N	EFO	7	EFO	genetic disorder	Postaxial polydactyly of toes, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295179	"" []	5414620	\N	\N	EFO	7	EFO	bone disease	Postaxial polydactyly of toes, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295179	"" []	5414621	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly of toes, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295179	"" []	6551190	\N	\N	EFO	9	EFO	disease	Postaxial polydactyly of toes, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295179	"" []	6150828	\N	\N	EFO	8	EFO	skeletal system disease	Postaxial polydactyly of toes, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295179	"" []	6889332	\N	\N	EFO	10	EFO	disposition	Postaxial polydactyly of toes, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295179	"" []	6633386	\N	\N	EFO	9	EFO	disease	Postaxial polydactyly of toes, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295179	"" []	7086020	\N	\N	EFO	11	EFO	material property	Postaxial polydactyly of toes, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295179	"" []	7204407	\N	\N	EFO	12	EFO	experimental factor	Postaxial polydactyly of toes, unilateral
Orphanet:295181	\N	\N	"" []	Orphanet:295181	"" []	76055	\N	\N	EFO	0	EFO	Postaxial polydactyly of toes, bilateral	Postaxial polydactyly of toes, bilateral
Orphanet:295008	Orphanet:295181	\N	"" []	Orphanet:295181	"" []	218851	\N	\N	EFO	1	EFO	Postaxial polydactyly of toes	Postaxial polydactyly of toes, bilateral
Orphanet:2913	Orphanet:295008	\N	"" []	Orphanet:295181	"" []	574043	\N	\N	EFO	2	EFO	Polydactyly	Postaxial polydactyly of toes, bilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295181	"" []	1156730	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Postaxial polydactyly of toes, bilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295181	"" []	2039724	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Postaxial polydactyly of toes, bilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295181	"" []	2039725	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial polydactyly of toes, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295181	"" []	3190058	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Postaxial polydactyly of toes, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295181	"" []	3190059	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Postaxial polydactyly of toes, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295181	"" []	4396981	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly of toes, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295181	"" []	4396982	\N	\N	EFO	6	EFO	Rare genetic bone disease	Postaxial polydactyly of toes, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295181	"" []	4396983	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Postaxial polydactyly of toes, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295181	"" []	6150832	\N	\N	EFO	8	EFO	genetic disorder	Postaxial polydactyly of toes, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295181	"" []	5414623	\N	\N	EFO	7	EFO	genetic disorder	Postaxial polydactyly of toes, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295181	"" []	5414624	\N	\N	EFO	7	EFO	bone disease	Postaxial polydactyly of toes, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295181	"" []	5414625	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly of toes, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295181	"" []	6551191	\N	\N	EFO	9	EFO	disease	Postaxial polydactyly of toes, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295181	"" []	6150831	\N	\N	EFO	8	EFO	skeletal system disease	Postaxial polydactyly of toes, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295181	"" []	6889333	\N	\N	EFO	10	EFO	disposition	Postaxial polydactyly of toes, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295181	"" []	6633388	\N	\N	EFO	9	EFO	disease	Postaxial polydactyly of toes, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295181	"" []	7086021	\N	\N	EFO	11	EFO	material property	Postaxial polydactyly of toes, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295181	"" []	7204408	\N	\N	EFO	12	EFO	experimental factor	Postaxial polydactyly of toes, bilateral
Orphanet:295183	\N	\N	"" []	Orphanet:295183	"" []	76056	\N	\N	EFO	0	EFO	Central polydactyly of toes, unilateral	Central polydactyly of toes, unilateral
Orphanet:295010	Orphanet:295183	\N	"" []	Orphanet:295183	"" []	218852	\N	\N	EFO	1	EFO	Central polydactyly of toes	Central polydactyly of toes, unilateral
Orphanet:2913	Orphanet:295010	\N	"" []	Orphanet:295183	"" []	574044	\N	\N	EFO	2	EFO	Polydactyly	Central polydactyly of toes, unilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295183	"" []	1156731	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Central polydactyly of toes, unilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295183	"" []	2039726	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Central polydactyly of toes, unilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295183	"" []	2039727	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Central polydactyly of toes, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295183	"" []	3190060	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Central polydactyly of toes, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295183	"" []	3190061	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Central polydactyly of toes, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295183	"" []	4396984	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Central polydactyly of toes, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295183	"" []	4396985	\N	\N	EFO	6	EFO	Rare genetic bone disease	Central polydactyly of toes, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295183	"" []	4396986	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Central polydactyly of toes, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295183	"" []	6150835	\N	\N	EFO	8	EFO	genetic disorder	Central polydactyly of toes, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295183	"" []	5414627	\N	\N	EFO	7	EFO	genetic disorder	Central polydactyly of toes, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295183	"" []	5414628	\N	\N	EFO	7	EFO	bone disease	Central polydactyly of toes, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295183	"" []	5414629	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Central polydactyly of toes, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295183	"" []	6551192	\N	\N	EFO	9	EFO	disease	Central polydactyly of toes, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295183	"" []	6150834	\N	\N	EFO	8	EFO	skeletal system disease	Central polydactyly of toes, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295183	"" []	6889334	\N	\N	EFO	10	EFO	disposition	Central polydactyly of toes, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295183	"" []	6633390	\N	\N	EFO	9	EFO	disease	Central polydactyly of toes, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295183	"" []	7086022	\N	\N	EFO	11	EFO	material property	Central polydactyly of toes, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295183	"" []	7204409	\N	\N	EFO	12	EFO	experimental factor	Central polydactyly of toes, unilateral
Orphanet:295185	\N	\N	"" []	Orphanet:295185	"" []	76057	\N	\N	EFO	0	EFO	Central polydactyly of toes, bilateral	Central polydactyly of toes, bilateral
Orphanet:295010	Orphanet:295185	\N	"" []	Orphanet:295185	"" []	218853	\N	\N	EFO	1	EFO	Central polydactyly of toes	Central polydactyly of toes, bilateral
Orphanet:2913	Orphanet:295010	\N	"" []	Orphanet:295185	"" []	574045	\N	\N	EFO	2	EFO	Polydactyly	Central polydactyly of toes, bilateral
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:295185	"" []	1156732	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Central polydactyly of toes, bilateral
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295185	"" []	2039728	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Central polydactyly of toes, bilateral
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295185	"" []	2039729	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Central polydactyly of toes, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295185	"" []	3190062	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Central polydactyly of toes, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295185	"" []	3190063	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Central polydactyly of toes, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295185	"" []	4396987	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Central polydactyly of toes, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295185	"" []	4396988	\N	\N	EFO	6	EFO	Rare genetic bone disease	Central polydactyly of toes, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295185	"" []	4396989	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Central polydactyly of toes, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295185	"" []	6150838	\N	\N	EFO	8	EFO	genetic disorder	Central polydactyly of toes, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295185	"" []	5414631	\N	\N	EFO	7	EFO	genetic disorder	Central polydactyly of toes, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295185	"" []	5414632	\N	\N	EFO	7	EFO	bone disease	Central polydactyly of toes, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295185	"" []	5414633	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Central polydactyly of toes, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295185	"" []	6551193	\N	\N	EFO	9	EFO	disease	Central polydactyly of toes, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295185	"" []	6150837	\N	\N	EFO	8	EFO	skeletal system disease	Central polydactyly of toes, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295185	"" []	6889335	\N	\N	EFO	10	EFO	disposition	Central polydactyly of toes, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295185	"" []	6633392	\N	\N	EFO	9	EFO	disease	Central polydactyly of toes, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295185	"" []	7086023	\N	\N	EFO	11	EFO	material property	Central polydactyly of toes, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295185	"" []	7204410	\N	\N	EFO	12	EFO	experimental factor	Central polydactyly of toes, bilateral
Orphanet:295187	\N	\N	"" []	Orphanet:295187	"" []	76058	\N	\N	EFO	0	EFO	Zygodactyly type 1	Zygodactyly type 1
Orphanet:93402	Orphanet:295187	\N	"" []	Orphanet:295187	"" []	218854	\N	\N	EFO	1	EFO	Syndactyly type 1	Zygodactyly type 1
Orphanet:90025	Orphanet:93402	\N	"" []	Orphanet:295187	"" []	574046	\N	\N	EFO	2	EFO	Syndactyly	Zygodactyly type 1
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:295187	"" []	1156733	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Zygodactyly type 1
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295187	"" []	2039730	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Zygodactyly type 1
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295187	"" []	2039731	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Zygodactyly type 1
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295187	"" []	3190064	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Zygodactyly type 1
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295187	"" []	3190065	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Zygodactyly type 1
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295187	"" []	4396990	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Zygodactyly type 1
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295187	"" []	4396991	\N	\N	EFO	6	EFO	Rare genetic bone disease	Zygodactyly type 1
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295187	"" []	4396992	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Zygodactyly type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295187	"" []	6150841	\N	\N	EFO	8	EFO	genetic disorder	Zygodactyly type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295187	"" []	5414635	\N	\N	EFO	7	EFO	genetic disorder	Zygodactyly type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295187	"" []	5414636	\N	\N	EFO	7	EFO	bone disease	Zygodactyly type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295187	"" []	5414637	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Zygodactyly type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295187	"" []	6551194	\N	\N	EFO	9	EFO	disease	Zygodactyly type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295187	"" []	6150840	\N	\N	EFO	8	EFO	skeletal system disease	Zygodactyly type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295187	"" []	6889336	\N	\N	EFO	10	EFO	disposition	Zygodactyly type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295187	"" []	6633394	\N	\N	EFO	9	EFO	disease	Zygodactyly type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295187	"" []	7086024	\N	\N	EFO	11	EFO	material property	Zygodactyly type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295187	"" []	7204411	\N	\N	EFO	12	EFO	experimental factor	Zygodactyly type 1
Orphanet:295189	\N	\N	"" []	Orphanet:295189	"" []	76059	\N	\N	EFO	0	EFO	Zygodactyly type 2	Zygodactyly type 2
Orphanet:93402	Orphanet:295189	\N	"" []	Orphanet:295189	"" []	218855	\N	\N	EFO	1	EFO	Syndactyly type 1	Zygodactyly type 2
Orphanet:90025	Orphanet:93402	\N	"" []	Orphanet:295189	"" []	574047	\N	\N	EFO	2	EFO	Syndactyly	Zygodactyly type 2
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:295189	"" []	1156734	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Zygodactyly type 2
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295189	"" []	2039732	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Zygodactyly type 2
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295189	"" []	2039733	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Zygodactyly type 2
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295189	"" []	3190066	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Zygodactyly type 2
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295189	"" []	3190067	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Zygodactyly type 2
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295189	"" []	4396993	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Zygodactyly type 2
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295189	"" []	4396994	\N	\N	EFO	6	EFO	Rare genetic bone disease	Zygodactyly type 2
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295189	"" []	4396995	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Zygodactyly type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295189	"" []	6150844	\N	\N	EFO	8	EFO	genetic disorder	Zygodactyly type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295189	"" []	5414639	\N	\N	EFO	7	EFO	genetic disorder	Zygodactyly type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295189	"" []	5414640	\N	\N	EFO	7	EFO	bone disease	Zygodactyly type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295189	"" []	5414641	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Zygodactyly type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295189	"" []	6551195	\N	\N	EFO	9	EFO	disease	Zygodactyly type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295189	"" []	6150843	\N	\N	EFO	8	EFO	skeletal system disease	Zygodactyly type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295189	"" []	6889337	\N	\N	EFO	10	EFO	disposition	Zygodactyly type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295189	"" []	6633396	\N	\N	EFO	9	EFO	disease	Zygodactyly type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295189	"" []	7086025	\N	\N	EFO	11	EFO	material property	Zygodactyly type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295189	"" []	7204412	\N	\N	EFO	12	EFO	experimental factor	Zygodactyly type 2
Orphanet:295191	\N	\N	"" []	Orphanet:295191	"" []	76060	\N	\N	EFO	0	EFO	Zygodactyly type 3	Zygodactyly type 3
Orphanet:93402	Orphanet:295191	\N	"" []	Orphanet:295191	"" []	218856	\N	\N	EFO	1	EFO	Syndactyly type 1	Zygodactyly type 3
Orphanet:90025	Orphanet:93402	\N	"" []	Orphanet:295191	"" []	574048	\N	\N	EFO	2	EFO	Syndactyly	Zygodactyly type 3
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:295191	"" []	1156735	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Zygodactyly type 3
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295191	"" []	2039734	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Zygodactyly type 3
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295191	"" []	2039735	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Zygodactyly type 3
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295191	"" []	3190068	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Zygodactyly type 3
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295191	"" []	3190069	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Zygodactyly type 3
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295191	"" []	4396996	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Zygodactyly type 3
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295191	"" []	4396997	\N	\N	EFO	6	EFO	Rare genetic bone disease	Zygodactyly type 3
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295191	"" []	4396998	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Zygodactyly type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295191	"" []	6150847	\N	\N	EFO	8	EFO	genetic disorder	Zygodactyly type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295191	"" []	5414643	\N	\N	EFO	7	EFO	genetic disorder	Zygodactyly type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295191	"" []	5414644	\N	\N	EFO	7	EFO	bone disease	Zygodactyly type 3
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295191	"" []	5414645	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Zygodactyly type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295191	"" []	6551196	\N	\N	EFO	9	EFO	disease	Zygodactyly type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295191	"" []	6150846	\N	\N	EFO	8	EFO	skeletal system disease	Zygodactyly type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295191	"" []	6889338	\N	\N	EFO	10	EFO	disposition	Zygodactyly type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295191	"" []	6633398	\N	\N	EFO	9	EFO	disease	Zygodactyly type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295191	"" []	7086026	\N	\N	EFO	11	EFO	material property	Zygodactyly type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295191	"" []	7204413	\N	\N	EFO	12	EFO	experimental factor	Zygodactyly type 3
Orphanet:295193	\N	\N	"" []	Orphanet:295193	"" []	76061	\N	\N	EFO	0	EFO	Zygodactyly type 4	Zygodactyly type 4
Orphanet:93402	Orphanet:295193	\N	"" []	Orphanet:295193	"" []	218857	\N	\N	EFO	1	EFO	Syndactyly type 1	Zygodactyly type 4
Orphanet:90025	Orphanet:93402	\N	"" []	Orphanet:295193	"" []	574049	\N	\N	EFO	2	EFO	Syndactyly	Zygodactyly type 4
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:295193	"" []	1156736	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Zygodactyly type 4
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295193	"" []	2039736	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Zygodactyly type 4
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295193	"" []	2039737	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Zygodactyly type 4
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295193	"" []	3190070	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Zygodactyly type 4
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295193	"" []	3190071	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Zygodactyly type 4
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295193	"" []	4396999	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Zygodactyly type 4
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295193	"" []	4397000	\N	\N	EFO	6	EFO	Rare genetic bone disease	Zygodactyly type 4
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295193	"" []	4397001	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Zygodactyly type 4
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295193	"" []	6150850	\N	\N	EFO	8	EFO	genetic disorder	Zygodactyly type 4
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295193	"" []	5414647	\N	\N	EFO	7	EFO	genetic disorder	Zygodactyly type 4
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295193	"" []	5414648	\N	\N	EFO	7	EFO	bone disease	Zygodactyly type 4
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295193	"" []	5414649	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Zygodactyly type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295193	"" []	6551197	\N	\N	EFO	9	EFO	disease	Zygodactyly type 4
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295193	"" []	6150849	\N	\N	EFO	8	EFO	skeletal system disease	Zygodactyly type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295193	"" []	6889339	\N	\N	EFO	10	EFO	disposition	Zygodactyly type 4
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295193	"" []	6633400	\N	\N	EFO	9	EFO	disease	Zygodactyly type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295193	"" []	7086027	\N	\N	EFO	11	EFO	material property	Zygodactyly type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295193	"" []	7204414	\N	\N	EFO	12	EFO	experimental factor	Zygodactyly type 4
Orphanet:295195	\N	\N	"" []	Orphanet:295195	"" []	76062	\N	\N	EFO	0	EFO	Synpolydactyly type 1	Synpolydactyly type 1
Orphanet:93403	Orphanet:295195	\N	"" []	Orphanet:295195	"" []	218858	\N	\N	EFO	1	EFO	Syndactyly type 2	Synpolydactyly type 1
Orphanet:90025	Orphanet:93403	\N	"" []	Orphanet:295195	"" []	574050	\N	\N	EFO	2	EFO	Syndactyly	Synpolydactyly type 1
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:295195	"" []	1156737	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Synpolydactyly type 1
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295195	"" []	2039738	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Synpolydactyly type 1
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295195	"" []	2039739	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Synpolydactyly type 1
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295195	"" []	3190072	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Synpolydactyly type 1
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295195	"" []	3190073	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Synpolydactyly type 1
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295195	"" []	4397002	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Synpolydactyly type 1
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295195	"" []	4397003	\N	\N	EFO	6	EFO	Rare genetic bone disease	Synpolydactyly type 1
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295195	"" []	4397004	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Synpolydactyly type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295195	"" []	6150853	\N	\N	EFO	8	EFO	genetic disorder	Synpolydactyly type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295195	"" []	5414651	\N	\N	EFO	7	EFO	genetic disorder	Synpolydactyly type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295195	"" []	5414652	\N	\N	EFO	7	EFO	bone disease	Synpolydactyly type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295195	"" []	5414653	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Synpolydactyly type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295195	"" []	6551198	\N	\N	EFO	9	EFO	disease	Synpolydactyly type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295195	"" []	6150852	\N	\N	EFO	8	EFO	skeletal system disease	Synpolydactyly type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295195	"" []	6889340	\N	\N	EFO	10	EFO	disposition	Synpolydactyly type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295195	"" []	6633402	\N	\N	EFO	9	EFO	disease	Synpolydactyly type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295195	"" []	7086028	\N	\N	EFO	11	EFO	material property	Synpolydactyly type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295195	"" []	7204415	\N	\N	EFO	12	EFO	experimental factor	Synpolydactyly type 1
Orphanet:295197	\N	\N	"" []	Orphanet:295197	"" []	76063	\N	\N	EFO	0	EFO	Synpolydactyly type 2	Synpolydactyly type 2
Orphanet:93403	Orphanet:295197	\N	"" []	Orphanet:295197	"" []	218859	\N	\N	EFO	1	EFO	Syndactyly type 2	Synpolydactyly type 2
Orphanet:90025	Orphanet:93403	\N	"" []	Orphanet:295197	"" []	574051	\N	\N	EFO	2	EFO	Syndactyly	Synpolydactyly type 2
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:295197	"" []	1156738	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Synpolydactyly type 2
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295197	"" []	2039740	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Synpolydactyly type 2
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295197	"" []	2039741	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Synpolydactyly type 2
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295197	"" []	3190074	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Synpolydactyly type 2
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295197	"" []	3190075	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Synpolydactyly type 2
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295197	"" []	4397005	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Synpolydactyly type 2
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295197	"" []	4397006	\N	\N	EFO	6	EFO	Rare genetic bone disease	Synpolydactyly type 2
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295197	"" []	4397007	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Synpolydactyly type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295197	"" []	6150856	\N	\N	EFO	8	EFO	genetic disorder	Synpolydactyly type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295197	"" []	5414655	\N	\N	EFO	7	EFO	genetic disorder	Synpolydactyly type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295197	"" []	5414656	\N	\N	EFO	7	EFO	bone disease	Synpolydactyly type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295197	"" []	5414657	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Synpolydactyly type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295197	"" []	6551199	\N	\N	EFO	9	EFO	disease	Synpolydactyly type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295197	"" []	6150855	\N	\N	EFO	8	EFO	skeletal system disease	Synpolydactyly type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295197	"" []	6889341	\N	\N	EFO	10	EFO	disposition	Synpolydactyly type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295197	"" []	6633404	\N	\N	EFO	9	EFO	disease	Synpolydactyly type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295197	"" []	7086029	\N	\N	EFO	11	EFO	material property	Synpolydactyly type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295197	"" []	7204416	\N	\N	EFO	12	EFO	experimental factor	Synpolydactyly type 2
Orphanet:295199	\N	\N	"" []	Orphanet:295199	"" []	76064	\N	\N	EFO	0	EFO	Synpolydactyly type 3	Synpolydactyly type 3
Orphanet:93403	Orphanet:295199	\N	"" []	Orphanet:295199	"" []	218860	\N	\N	EFO	1	EFO	Syndactyly type 2	Synpolydactyly type 3
Orphanet:90025	Orphanet:93403	\N	"" []	Orphanet:295199	"" []	574052	\N	\N	EFO	2	EFO	Syndactyly	Synpolydactyly type 3
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:295199	"" []	1156739	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Synpolydactyly type 3
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:295199	"" []	2039742	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Synpolydactyly type 3
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:295199	"" []	2039743	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Synpolydactyly type 3
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295199	"" []	3190076	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Synpolydactyly type 3
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295199	"" []	3190077	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Synpolydactyly type 3
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295199	"" []	4397008	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Synpolydactyly type 3
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295199	"" []	4397009	\N	\N	EFO	6	EFO	Rare genetic bone disease	Synpolydactyly type 3
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295199	"" []	4397010	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Synpolydactyly type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295199	"" []	6150859	\N	\N	EFO	8	EFO	genetic disorder	Synpolydactyly type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295199	"" []	5414659	\N	\N	EFO	7	EFO	genetic disorder	Synpolydactyly type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295199	"" []	5414660	\N	\N	EFO	7	EFO	bone disease	Synpolydactyly type 3
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295199	"" []	5414661	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Synpolydactyly type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295199	"" []	6551200	\N	\N	EFO	9	EFO	disease	Synpolydactyly type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295199	"" []	6150858	\N	\N	EFO	8	EFO	skeletal system disease	Synpolydactyly type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295199	"" []	6889342	\N	\N	EFO	10	EFO	disposition	Synpolydactyly type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295199	"" []	6633406	\N	\N	EFO	9	EFO	disease	Synpolydactyly type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295199	"" []	7086030	\N	\N	EFO	11	EFO	material property	Synpolydactyly type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295199	"" []	7204417	\N	\N	EFO	12	EFO	experimental factor	Synpolydactyly type 3
Orphanet:2952	\N	\N	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	76065	\N	\N	EFO	0	EFO	Adducted thumbs - arthrogryposis, Christian type	Adducted thumbs - arthrogryposis, Christian type
Orphanet:1037	Orphanet:2952	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	218861	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Adducted thumbs - arthrogryposis, Christian type
Orphanet:156237	Orphanet:2952	\N	"" []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	218862	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Adducted thumbs - arthrogryposis, Christian type
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	574053	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Adducted thumbs - arthrogryposis, Christian type
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	574054	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Adducted thumbs - arthrogryposis, Christian type
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	1156740	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Adducted thumbs - arthrogryposis, Christian type
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	1156741	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Adducted thumbs - arthrogryposis, Christian type
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	2039744	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Adducted thumbs - arthrogryposis, Christian type
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	2039745	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Adducted thumbs - arthrogryposis, Christian type
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	3190078	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Adducted thumbs - arthrogryposis, Christian type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	4397011	\N	\N	EFO	6	EFO	genetic disorder	Adducted thumbs - arthrogryposis, Christian type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	5182492	\N	\N	EFO	7	EFO	disease	Adducted thumbs - arthrogryposis, Christian type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	5997855	\N	\N	EFO	8	EFO	disposition	Adducted thumbs - arthrogryposis, Christian type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	6551201	\N	\N	EFO	9	EFO	material property	Adducted thumbs - arthrogryposis, Christian type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2952	"Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\\"myopathic\\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." []	6889343	\N	\N	EFO	10	EFO	experimental factor	Adducted thumbs - arthrogryposis, Christian type
Orphanet:295201	\N	\N	"" []	Orphanet:295201	"" []	76066	\N	\N	EFO	0	EFO	Congenital vertical talus, unilateral	Congenital vertical talus, unilateral
Orphanet:178382	Orphanet:295201	\N	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	Orphanet:295201	"" []	218863	\N	\N	EFO	1	EFO	Congenital vertical talus	Congenital vertical talus, unilateral
Orphanet:294944	Orphanet:178382	\N	"" []	Orphanet:295201	"" []	574055	\N	\N	EFO	2	EFO	Congenital deformities of limbs	Congenital vertical talus, unilateral
Orphanet:109011	Orphanet:294944	\N	"" []	Orphanet:295201	"" []	1156742	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Congenital vertical talus, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295201	"" []	2039746	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital vertical talus, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295201	"" []	3190080	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital vertical talus, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295201	"" []	4397013	\N	\N	EFO	6	EFO	genetic disorder	Congenital vertical talus, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295201	"" []	5414663	\N	\N	EFO	7	EFO	disease	Congenital vertical talus, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295201	"" []	6150861	\N	\N	EFO	8	EFO	disposition	Congenital vertical talus, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295201	"" []	6633408	\N	\N	EFO	9	EFO	material property	Congenital vertical talus, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295201	"" []	6925990	\N	\N	EFO	10	EFO	experimental factor	Congenital vertical talus, unilateral
Orphanet:295203	\N	\N	"" []	Orphanet:295203	"" []	76067	\N	\N	EFO	0	EFO	Congenital vertical talus, bilateral	Congenital vertical talus, bilateral
Orphanet:178382	Orphanet:295203	\N	"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." []	Orphanet:295203	"" []	218864	\N	\N	EFO	1	EFO	Congenital vertical talus	Congenital vertical talus, bilateral
Orphanet:294944	Orphanet:178382	\N	"" []	Orphanet:295203	"" []	574056	\N	\N	EFO	2	EFO	Congenital deformities of limbs	Congenital vertical talus, bilateral
Orphanet:109011	Orphanet:294944	\N	"" []	Orphanet:295203	"" []	1156743	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Congenital vertical talus, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295203	"" []	2039747	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital vertical talus, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295203	"" []	3190081	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital vertical talus, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295203	"" []	4397014	\N	\N	EFO	6	EFO	genetic disorder	Congenital vertical talus, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295203	"" []	5414664	\N	\N	EFO	7	EFO	disease	Congenital vertical talus, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295203	"" []	6150862	\N	\N	EFO	8	EFO	disposition	Congenital vertical talus, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295203	"" []	6633409	\N	\N	EFO	9	EFO	material property	Congenital vertical talus, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295203	"" []	6925991	\N	\N	EFO	10	EFO	experimental factor	Congenital vertical talus, bilateral
Orphanet:295205	\N	\N	"" []	Orphanet:295205	"" []	76068	\N	\N	EFO	0	EFO	Humero-radio-ulnar synostosis, unilateral	Humero-radio-ulnar synostosis, unilateral
Orphanet:3266	Orphanet:295205	\N	"" []	Orphanet:295205	"" []	218865	\N	\N	EFO	1	EFO	Humero-radio-ulnar synostosis	Humero-radio-ulnar synostosis, unilateral
Orphanet:294949	Orphanet:3266	\N	"" []	Orphanet:295205	"" []	574057	\N	\N	EFO	2	EFO	Joint formation defects	Humero-radio-ulnar synostosis, unilateral
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:295205	"" []	1156744	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Humero-radio-ulnar synostosis, unilateral
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:295205	"" []	1156745	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humero-radio-ulnar synostosis, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295205	"" []	2039748	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Humero-radio-ulnar synostosis, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295205	"" []	2039749	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Humero-radio-ulnar synostosis, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295205	"" []	3190082	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humero-radio-ulnar synostosis, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295205	"" []	3190083	\N	\N	EFO	5	EFO	Rare genetic bone disease	Humero-radio-ulnar synostosis, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295205	"" []	3190084	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Humero-radio-ulnar synostosis, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295205	"" []	5414667	\N	\N	EFO	7	EFO	genetic disorder	Humero-radio-ulnar synostosis, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295205	"" []	4397016	\N	\N	EFO	6	EFO	genetic disorder	Humero-radio-ulnar synostosis, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295205	"" []	4397017	\N	\N	EFO	6	EFO	bone disease	Humero-radio-ulnar synostosis, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295205	"" []	4397018	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Humero-radio-ulnar synostosis, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295205	"" []	5997856	\N	\N	EFO	8	EFO	disease	Humero-radio-ulnar synostosis, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295205	"" []	5414666	\N	\N	EFO	7	EFO	skeletal system disease	Humero-radio-ulnar synostosis, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295205	"" []	6551202	\N	\N	EFO	9	EFO	disposition	Humero-radio-ulnar synostosis, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295205	"" []	6150864	\N	\N	EFO	8	EFO	disease	Humero-radio-ulnar synostosis, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295205	"" []	6889344	\N	\N	EFO	10	EFO	material property	Humero-radio-ulnar synostosis, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295205	"" []	7086031	\N	\N	EFO	11	EFO	experimental factor	Humero-radio-ulnar synostosis, unilateral
Orphanet:295207	\N	\N	"" []	Orphanet:295207	"" []	76069	\N	\N	EFO	0	EFO	Humero-radio-ulnar synostosis, bilateral	Humero-radio-ulnar synostosis, bilateral
Orphanet:3266	Orphanet:295207	\N	"" []	Orphanet:295207	"" []	218866	\N	\N	EFO	1	EFO	Humero-radio-ulnar synostosis	Humero-radio-ulnar synostosis, bilateral
Orphanet:294949	Orphanet:3266	\N	"" []	Orphanet:295207	"" []	574058	\N	\N	EFO	2	EFO	Joint formation defects	Humero-radio-ulnar synostosis, bilateral
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:295207	"" []	1156746	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Humero-radio-ulnar synostosis, bilateral
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:295207	"" []	1156747	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humero-radio-ulnar synostosis, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295207	"" []	2039750	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Humero-radio-ulnar synostosis, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295207	"" []	2039751	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Humero-radio-ulnar synostosis, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295207	"" []	3190085	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humero-radio-ulnar synostosis, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295207	"" []	3190086	\N	\N	EFO	5	EFO	Rare genetic bone disease	Humero-radio-ulnar synostosis, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295207	"" []	3190087	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Humero-radio-ulnar synostosis, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295207	"" []	5414670	\N	\N	EFO	7	EFO	genetic disorder	Humero-radio-ulnar synostosis, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295207	"" []	4397020	\N	\N	EFO	6	EFO	genetic disorder	Humero-radio-ulnar synostosis, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295207	"" []	4397021	\N	\N	EFO	6	EFO	bone disease	Humero-radio-ulnar synostosis, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295207	"" []	4397022	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Humero-radio-ulnar synostosis, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295207	"" []	5997857	\N	\N	EFO	8	EFO	disease	Humero-radio-ulnar synostosis, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295207	"" []	5414669	\N	\N	EFO	7	EFO	skeletal system disease	Humero-radio-ulnar synostosis, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295207	"" []	6551203	\N	\N	EFO	9	EFO	disposition	Humero-radio-ulnar synostosis, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295207	"" []	6150866	\N	\N	EFO	8	EFO	disease	Humero-radio-ulnar synostosis, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295207	"" []	6889345	\N	\N	EFO	10	EFO	material property	Humero-radio-ulnar synostosis, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295207	"" []	7086032	\N	\N	EFO	11	EFO	experimental factor	Humero-radio-ulnar synostosis, bilateral
Orphanet:295209	\N	\N	"" []	Orphanet:295209	"" []	76070	\N	\N	EFO	0	EFO	Humero-radial synostosis, unilateral	Humero-radial synostosis, unilateral
Orphanet:3265	Orphanet:295209	\N	"" []	Orphanet:295209	"" []	218867	\N	\N	EFO	1	EFO	Humero-radial synostosis	Humero-radial synostosis, unilateral
Orphanet:294949	Orphanet:3265	\N	"" []	Orphanet:295209	"" []	574059	\N	\N	EFO	2	EFO	Joint formation defects	Humero-radial synostosis, unilateral
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:295209	"" []	1156748	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Humero-radial synostosis, unilateral
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:295209	"" []	1156749	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humero-radial synostosis, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295209	"" []	2039752	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Humero-radial synostosis, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295209	"" []	2039753	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Humero-radial synostosis, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295209	"" []	3190088	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humero-radial synostosis, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295209	"" []	3190089	\N	\N	EFO	5	EFO	Rare genetic bone disease	Humero-radial synostosis, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295209	"" []	3190090	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Humero-radial synostosis, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295209	"" []	5414673	\N	\N	EFO	7	EFO	genetic disorder	Humero-radial synostosis, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295209	"" []	4397024	\N	\N	EFO	6	EFO	genetic disorder	Humero-radial synostosis, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295209	"" []	4397025	\N	\N	EFO	6	EFO	bone disease	Humero-radial synostosis, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295209	"" []	4397026	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Humero-radial synostosis, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295209	"" []	5997858	\N	\N	EFO	8	EFO	disease	Humero-radial synostosis, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295209	"" []	5414672	\N	\N	EFO	7	EFO	skeletal system disease	Humero-radial synostosis, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295209	"" []	6551204	\N	\N	EFO	9	EFO	disposition	Humero-radial synostosis, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295209	"" []	6150868	\N	\N	EFO	8	EFO	disease	Humero-radial synostosis, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295209	"" []	6889346	\N	\N	EFO	10	EFO	material property	Humero-radial synostosis, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295209	"" []	7086033	\N	\N	EFO	11	EFO	experimental factor	Humero-radial synostosis, unilateral
Orphanet:295211	\N	\N	"" []	Orphanet:295211	"" []	76071	\N	\N	EFO	0	EFO	Humero-radial synostosis, bilateral	Humero-radial synostosis, bilateral
Orphanet:3265	Orphanet:295211	\N	"" []	Orphanet:295211	"" []	218868	\N	\N	EFO	1	EFO	Humero-radial synostosis	Humero-radial synostosis, bilateral
Orphanet:294949	Orphanet:3265	\N	"" []	Orphanet:295211	"" []	574060	\N	\N	EFO	2	EFO	Joint formation defects	Humero-radial synostosis, bilateral
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:295211	"" []	1156750	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Humero-radial synostosis, bilateral
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:295211	"" []	1156751	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humero-radial synostosis, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295211	"" []	2039754	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Humero-radial synostosis, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295211	"" []	2039755	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Humero-radial synostosis, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295211	"" []	3190091	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humero-radial synostosis, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295211	"" []	3190092	\N	\N	EFO	5	EFO	Rare genetic bone disease	Humero-radial synostosis, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295211	"" []	3190093	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Humero-radial synostosis, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295211	"" []	5414676	\N	\N	EFO	7	EFO	genetic disorder	Humero-radial synostosis, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295211	"" []	4397028	\N	\N	EFO	6	EFO	genetic disorder	Humero-radial synostosis, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295211	"" []	4397029	\N	\N	EFO	6	EFO	bone disease	Humero-radial synostosis, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295211	"" []	4397030	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Humero-radial synostosis, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295211	"" []	5997859	\N	\N	EFO	8	EFO	disease	Humero-radial synostosis, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295211	"" []	5414675	\N	\N	EFO	7	EFO	skeletal system disease	Humero-radial synostosis, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295211	"" []	6551205	\N	\N	EFO	9	EFO	disposition	Humero-radial synostosis, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295211	"" []	6150870	\N	\N	EFO	8	EFO	disease	Humero-radial synostosis, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295211	"" []	6889347	\N	\N	EFO	10	EFO	material property	Humero-radial synostosis, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295211	"" []	7086034	\N	\N	EFO	11	EFO	experimental factor	Humero-radial synostosis, bilateral
Orphanet:295213	\N	\N	"" []	Orphanet:295213	"" []	76072	\N	\N	EFO	0	EFO	Humero-ulnar synostosis, unilateral	Humero-ulnar synostosis, unilateral
Orphanet:94056	Orphanet:295213	\N	"" []	Orphanet:295213	"" []	218869	\N	\N	EFO	1	EFO	Humero-ulnar synostosis	Humero-ulnar synostosis, unilateral
Orphanet:294949	Orphanet:94056	\N	"" []	Orphanet:295213	"" []	574061	\N	\N	EFO	2	EFO	Joint formation defects	Humero-ulnar synostosis, unilateral
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:295213	"" []	1156752	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Humero-ulnar synostosis, unilateral
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:295213	"" []	1156753	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humero-ulnar synostosis, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295213	"" []	2039756	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Humero-ulnar synostosis, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295213	"" []	2039757	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Humero-ulnar synostosis, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295213	"" []	3190094	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humero-ulnar synostosis, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295213	"" []	3190095	\N	\N	EFO	5	EFO	Rare genetic bone disease	Humero-ulnar synostosis, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295213	"" []	3190096	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Humero-ulnar synostosis, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295213	"" []	5414679	\N	\N	EFO	7	EFO	genetic disorder	Humero-ulnar synostosis, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295213	"" []	4397032	\N	\N	EFO	6	EFO	genetic disorder	Humero-ulnar synostosis, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295213	"" []	4397033	\N	\N	EFO	6	EFO	bone disease	Humero-ulnar synostosis, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295213	"" []	4397034	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Humero-ulnar synostosis, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295213	"" []	5997860	\N	\N	EFO	8	EFO	disease	Humero-ulnar synostosis, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295213	"" []	5414678	\N	\N	EFO	7	EFO	skeletal system disease	Humero-ulnar synostosis, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295213	"" []	6551206	\N	\N	EFO	9	EFO	disposition	Humero-ulnar synostosis, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295213	"" []	6150872	\N	\N	EFO	8	EFO	disease	Humero-ulnar synostosis, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295213	"" []	6889348	\N	\N	EFO	10	EFO	material property	Humero-ulnar synostosis, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295213	"" []	7086035	\N	\N	EFO	11	EFO	experimental factor	Humero-ulnar synostosis, unilateral
Orphanet:295215	\N	\N	"" []	Orphanet:295215	"" []	76073	\N	\N	EFO	0	EFO	Humero-ulnar synostosis, bilateral	Humero-ulnar synostosis, bilateral
Orphanet:94056	Orphanet:295215	\N	"" []	Orphanet:295215	"" []	218870	\N	\N	EFO	1	EFO	Humero-ulnar synostosis	Humero-ulnar synostosis, bilateral
Orphanet:294949	Orphanet:94056	\N	"" []	Orphanet:295215	"" []	574062	\N	\N	EFO	2	EFO	Joint formation defects	Humero-ulnar synostosis, bilateral
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:295215	"" []	1156754	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Humero-ulnar synostosis, bilateral
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:295215	"" []	1156755	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humero-ulnar synostosis, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295215	"" []	2039758	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Humero-ulnar synostosis, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295215	"" []	2039759	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Humero-ulnar synostosis, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295215	"" []	3190097	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humero-ulnar synostosis, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295215	"" []	3190098	\N	\N	EFO	5	EFO	Rare genetic bone disease	Humero-ulnar synostosis, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295215	"" []	3190099	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Humero-ulnar synostosis, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295215	"" []	5414682	\N	\N	EFO	7	EFO	genetic disorder	Humero-ulnar synostosis, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295215	"" []	4397036	\N	\N	EFO	6	EFO	genetic disorder	Humero-ulnar synostosis, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295215	"" []	4397037	\N	\N	EFO	6	EFO	bone disease	Humero-ulnar synostosis, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295215	"" []	4397038	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Humero-ulnar synostosis, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295215	"" []	5997861	\N	\N	EFO	8	EFO	disease	Humero-ulnar synostosis, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295215	"" []	5414681	\N	\N	EFO	7	EFO	skeletal system disease	Humero-ulnar synostosis, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295215	"" []	6551207	\N	\N	EFO	9	EFO	disposition	Humero-ulnar synostosis, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295215	"" []	6150874	\N	\N	EFO	8	EFO	disease	Humero-ulnar synostosis, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295215	"" []	6889349	\N	\N	EFO	10	EFO	material property	Humero-ulnar synostosis, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295215	"" []	7086036	\N	\N	EFO	11	EFO	experimental factor	Humero-ulnar synostosis, bilateral
Orphanet:295217	\N	\N	"" []	Orphanet:295217	"" []	76074	\N	\N	EFO	0	EFO	Radio-ulnar synostosis, unilateral	Radio-ulnar synostosis, unilateral
Orphanet:3269	Orphanet:295217	\N	"" []	Orphanet:295217	"" []	218871	\N	\N	EFO	1	EFO	Radio-ulnar synostosis	Radio-ulnar synostosis, unilateral
Orphanet:294949	Orphanet:3269	\N	"" []	Orphanet:295217	"" []	574063	\N	\N	EFO	2	EFO	Joint formation defects	Radio-ulnar synostosis, unilateral
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:295217	"" []	1156756	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Radio-ulnar synostosis, unilateral
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:295217	"" []	1156757	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Radio-ulnar synostosis, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295217	"" []	2039760	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Radio-ulnar synostosis, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295217	"" []	2039761	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Radio-ulnar synostosis, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295217	"" []	3190100	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Radio-ulnar synostosis, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295217	"" []	3190101	\N	\N	EFO	5	EFO	Rare genetic bone disease	Radio-ulnar synostosis, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295217	"" []	3190102	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Radio-ulnar synostosis, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295217	"" []	5414685	\N	\N	EFO	7	EFO	genetic disorder	Radio-ulnar synostosis, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295217	"" []	4397040	\N	\N	EFO	6	EFO	genetic disorder	Radio-ulnar synostosis, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295217	"" []	4397041	\N	\N	EFO	6	EFO	bone disease	Radio-ulnar synostosis, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295217	"" []	4397042	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Radio-ulnar synostosis, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295217	"" []	5997862	\N	\N	EFO	8	EFO	disease	Radio-ulnar synostosis, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295217	"" []	5414684	\N	\N	EFO	7	EFO	skeletal system disease	Radio-ulnar synostosis, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295217	"" []	6551208	\N	\N	EFO	9	EFO	disposition	Radio-ulnar synostosis, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295217	"" []	6150876	\N	\N	EFO	8	EFO	disease	Radio-ulnar synostosis, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295217	"" []	6889350	\N	\N	EFO	10	EFO	material property	Radio-ulnar synostosis, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295217	"" []	7086037	\N	\N	EFO	11	EFO	experimental factor	Radio-ulnar synostosis, unilateral
Orphanet:295219	\N	\N	"" []	Orphanet:295219	"" []	76075	\N	\N	EFO	0	EFO	Radio-ulnar synostosis, bilateral	Radio-ulnar synostosis, bilateral
Orphanet:3269	Orphanet:295219	\N	"" []	Orphanet:295219	"" []	218872	\N	\N	EFO	1	EFO	Radio-ulnar synostosis	Radio-ulnar synostosis, bilateral
Orphanet:294949	Orphanet:3269	\N	"" []	Orphanet:295219	"" []	574064	\N	\N	EFO	2	EFO	Joint formation defects	Radio-ulnar synostosis, bilateral
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:295219	"" []	1156758	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Radio-ulnar synostosis, bilateral
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:295219	"" []	1156759	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Radio-ulnar synostosis, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295219	"" []	2039762	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Radio-ulnar synostosis, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295219	"" []	2039763	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Radio-ulnar synostosis, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295219	"" []	3190103	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Radio-ulnar synostosis, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295219	"" []	3190104	\N	\N	EFO	5	EFO	Rare genetic bone disease	Radio-ulnar synostosis, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295219	"" []	3190105	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Radio-ulnar synostosis, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295219	"" []	5414688	\N	\N	EFO	7	EFO	genetic disorder	Radio-ulnar synostosis, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295219	"" []	4397044	\N	\N	EFO	6	EFO	genetic disorder	Radio-ulnar synostosis, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295219	"" []	4397045	\N	\N	EFO	6	EFO	bone disease	Radio-ulnar synostosis, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295219	"" []	4397046	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Radio-ulnar synostosis, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295219	"" []	5997863	\N	\N	EFO	8	EFO	disease	Radio-ulnar synostosis, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295219	"" []	5414687	\N	\N	EFO	7	EFO	skeletal system disease	Radio-ulnar synostosis, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295219	"" []	6551209	\N	\N	EFO	9	EFO	disposition	Radio-ulnar synostosis, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295219	"" []	6150878	\N	\N	EFO	8	EFO	disease	Radio-ulnar synostosis, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295219	"" []	6889351	\N	\N	EFO	10	EFO	material property	Radio-ulnar synostosis, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295219	"" []	7086038	\N	\N	EFO	11	EFO	experimental factor	Radio-ulnar synostosis, bilateral
Orphanet:295221	\N	\N	"" []	Orphanet:295221	"" []	76076	\N	\N	EFO	0	EFO	Madelung deformity, unilateral	Madelung deformity, unilateral
Orphanet:35688	Orphanet:295221	\N	"" []	Orphanet:295221	"" []	218873	\N	\N	EFO	1	EFO	Madelung deformity	Madelung deformity, unilateral
Orphanet:294949	Orphanet:35688	\N	"" []	Orphanet:295221	"" []	574065	\N	\N	EFO	2	EFO	Joint formation defects	Madelung deformity, unilateral
Orphanet:93438	Orphanet:35688	\N	"" []	Orphanet:295221	"" []	574066	\N	\N	EFO	2	EFO	Mesomelic and rhizo-mesomelic dysplasia	Madelung deformity, unilateral
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:295221	"" []	1156760	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Madelung deformity, unilateral
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:295221	"" []	1156761	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Madelung deformity, unilateral
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:295221	"" []	1156762	\N	\N	EFO	3	EFO	Primary bone dysplasia	Madelung deformity, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295221	"" []	2039764	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Madelung deformity, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295221	"" []	2039765	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Madelung deformity, unilateral
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:295221	"" []	2039766	\N	\N	EFO	4	EFO	Rare genetic bone disease	Madelung deformity, unilateral
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:295221	"" []	2039767	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Madelung deformity, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295221	"" []	3190106	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Madelung deformity, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295221	"" []	3190107	\N	\N	EFO	5	EFO	Rare genetic bone disease	Madelung deformity, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295221	"" []	3190108	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Madelung deformity, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295221	"" []	4397048	\N	\N	EFO	6	EFO	genetic disorder	Madelung deformity, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295221	"" []	4397049	\N	\N	EFO	6	EFO	bone disease	Madelung deformity, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295221	"" []	4397050	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Madelung deformity, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295221	"" []	5182495	\N	\N	EFO	7	EFO	genetic disorder	Madelung deformity, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295221	"" []	5997864	\N	\N	EFO	8	EFO	disease	Madelung deformity, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295221	"" []	5182494	\N	\N	EFO	7	EFO	skeletal system disease	Madelung deformity, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295221	"" []	6470485	\N	\N	EFO	9	EFO	disposition	Madelung deformity, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295221	"" []	5997866	\N	\N	EFO	8	EFO	disease	Madelung deformity, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295221	"" []	6848558	\N	\N	EFO	10	EFO	material property	Madelung deformity, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295221	"" []	7068467	\N	\N	EFO	11	EFO	experimental factor	Madelung deformity, unilateral
Orphanet:295223	\N	\N	"" []	Orphanet:295223	"" []	76077	\N	\N	EFO	0	EFO	Madelung deformity, bilateral	Madelung deformity, bilateral
Orphanet:35688	Orphanet:295223	\N	"" []	Orphanet:295223	"" []	218874	\N	\N	EFO	1	EFO	Madelung deformity	Madelung deformity, bilateral
Orphanet:294949	Orphanet:35688	\N	"" []	Orphanet:295223	"" []	574067	\N	\N	EFO	2	EFO	Joint formation defects	Madelung deformity, bilateral
Orphanet:93438	Orphanet:35688	\N	"" []	Orphanet:295223	"" []	574068	\N	\N	EFO	2	EFO	Mesomelic and rhizo-mesomelic dysplasia	Madelung deformity, bilateral
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:295223	"" []	1156763	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Madelung deformity, bilateral
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:295223	"" []	1156764	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Madelung deformity, bilateral
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:295223	"" []	1156765	\N	\N	EFO	3	EFO	Primary bone dysplasia	Madelung deformity, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295223	"" []	2039768	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Madelung deformity, bilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:295223	"" []	2039769	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Madelung deformity, bilateral
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:295223	"" []	2039770	\N	\N	EFO	4	EFO	Rare genetic bone disease	Madelung deformity, bilateral
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:295223	"" []	2039771	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Madelung deformity, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295223	"" []	3190112	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Madelung deformity, bilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:295223	"" []	3190113	\N	\N	EFO	5	EFO	Rare genetic bone disease	Madelung deformity, bilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:295223	"" []	3190114	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Madelung deformity, bilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295223	"" []	4397054	\N	\N	EFO	6	EFO	genetic disorder	Madelung deformity, bilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:295223	"" []	4397055	\N	\N	EFO	6	EFO	bone disease	Madelung deformity, bilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:295223	"" []	4397056	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Madelung deformity, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295223	"" []	5182498	\N	\N	EFO	7	EFO	genetic disorder	Madelung deformity, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295223	"" []	5997867	\N	\N	EFO	8	EFO	disease	Madelung deformity, bilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:295223	"" []	5182497	\N	\N	EFO	7	EFO	skeletal system disease	Madelung deformity, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295223	"" []	6470486	\N	\N	EFO	9	EFO	disposition	Madelung deformity, bilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295223	"" []	5997869	\N	\N	EFO	8	EFO	disease	Madelung deformity, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295223	"" []	6848559	\N	\N	EFO	10	EFO	material property	Madelung deformity, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295223	"" []	7068468	\N	\N	EFO	11	EFO	experimental factor	Madelung deformity, bilateral
Orphanet:295225	\N	\N	"" []	Orphanet:295225	"" []	76078	\N	\N	EFO	0	EFO	Congenital elbow dislocation, unilateral	Congenital elbow dislocation, unilateral
Orphanet:295032	Orphanet:295225	\N	"" []	Orphanet:295225	"" []	218875	\N	\N	EFO	1	EFO	Congenital elbow dislocation	Congenital elbow dislocation, unilateral
Orphanet:294951	Orphanet:295032	\N	"" []	Orphanet:295225	"" []	574069	\N	\N	EFO	2	EFO	Congenital joint dislocations	Congenital elbow dislocation, unilateral
Orphanet:109011	Orphanet:294951	\N	"" []	Orphanet:295225	"" []	1156766	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Congenital elbow dislocation, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295225	"" []	2039772	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital elbow dislocation, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295225	"" []	3190118	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital elbow dislocation, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295225	"" []	4397059	\N	\N	EFO	6	EFO	genetic disorder	Congenital elbow dislocation, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295225	"" []	5414693	\N	\N	EFO	7	EFO	disease	Congenital elbow dislocation, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295225	"" []	6150881	\N	\N	EFO	8	EFO	disposition	Congenital elbow dislocation, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295225	"" []	6633420	\N	\N	EFO	9	EFO	material property	Congenital elbow dislocation, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295225	"" []	6926000	\N	\N	EFO	10	EFO	experimental factor	Congenital elbow dislocation, unilateral
Orphanet:295227	\N	\N	"" []	Orphanet:295227	"" []	76079	\N	\N	EFO	0	EFO	Congenital elbow dislocation, bilateral	Congenital elbow dislocation, bilateral
Orphanet:295032	Orphanet:295227	\N	"" []	Orphanet:295227	"" []	218876	\N	\N	EFO	1	EFO	Congenital elbow dislocation	Congenital elbow dislocation, bilateral
Orphanet:294951	Orphanet:295032	\N	"" []	Orphanet:295227	"" []	574070	\N	\N	EFO	2	EFO	Congenital joint dislocations	Congenital elbow dislocation, bilateral
Orphanet:109011	Orphanet:294951	\N	"" []	Orphanet:295227	"" []	1156767	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Congenital elbow dislocation, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295227	"" []	2039773	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital elbow dislocation, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295227	"" []	3190119	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital elbow dislocation, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295227	"" []	4397060	\N	\N	EFO	6	EFO	genetic disorder	Congenital elbow dislocation, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295227	"" []	5414694	\N	\N	EFO	7	EFO	disease	Congenital elbow dislocation, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295227	"" []	6150882	\N	\N	EFO	8	EFO	disposition	Congenital elbow dislocation, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295227	"" []	6633421	\N	\N	EFO	9	EFO	material property	Congenital elbow dislocation, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295227	"" []	6926001	\N	\N	EFO	10	EFO	experimental factor	Congenital elbow dislocation, bilateral
Orphanet:295229	\N	\N	"" []	Orphanet:295229	"" []	76080	\N	\N	EFO	0	EFO	Congenital genu recurvatum	Congenital genu recurvatum
Orphanet:295034	Orphanet:295229	\N	"" []	Orphanet:295229	"" []	218877	\N	\N	EFO	1	EFO	Congenital knee dislocation	Congenital genu recurvatum
Orphanet:294951	Orphanet:295034	\N	"" []	Orphanet:295229	"" []	574071	\N	\N	EFO	2	EFO	Congenital joint dislocations	Congenital genu recurvatum
Orphanet:109011	Orphanet:294951	\N	"" []	Orphanet:295229	"" []	1156768	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Congenital genu recurvatum
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295229	"" []	2039774	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital genu recurvatum
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295229	"" []	3190120	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital genu recurvatum
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295229	"" []	4397061	\N	\N	EFO	6	EFO	genetic disorder	Congenital genu recurvatum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295229	"" []	5414695	\N	\N	EFO	7	EFO	disease	Congenital genu recurvatum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295229	"" []	6150883	\N	\N	EFO	8	EFO	disposition	Congenital genu recurvatum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295229	"" []	6633422	\N	\N	EFO	9	EFO	material property	Congenital genu recurvatum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295229	"" []	6926002	\N	\N	EFO	10	EFO	experimental factor	Congenital genu recurvatum
Orphanet:295232	\N	\N	"" []	Orphanet:295232	"" []	76081	\N	\N	EFO	0	EFO	Congenital genu flexum	Congenital genu flexum
Orphanet:295034	Orphanet:295232	\N	"" []	Orphanet:295232	"" []	218878	\N	\N	EFO	1	EFO	Congenital knee dislocation	Congenital genu flexum
Orphanet:294951	Orphanet:295034	\N	"" []	Orphanet:295232	"" []	574072	\N	\N	EFO	2	EFO	Congenital joint dislocations	Congenital genu flexum
Orphanet:109011	Orphanet:294951	\N	"" []	Orphanet:295232	"" []	1156769	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Congenital genu flexum
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295232	"" []	2039775	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital genu flexum
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295232	"" []	3190121	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital genu flexum
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295232	"" []	4397062	\N	\N	EFO	6	EFO	genetic disorder	Congenital genu flexum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295232	"" []	5414696	\N	\N	EFO	7	EFO	disease	Congenital genu flexum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295232	"" []	6150884	\N	\N	EFO	8	EFO	disposition	Congenital genu flexum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295232	"" []	6633423	\N	\N	EFO	9	EFO	material property	Congenital genu flexum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295232	"" []	6926003	\N	\N	EFO	10	EFO	experimental factor	Congenital genu flexum
Orphanet:295234	\N	\N	"" []	Orphanet:295234	"" []	76082	\N	\N	EFO	0	EFO	Congenital patella dislocation, unilateral	Congenital patella dislocation, unilateral
Orphanet:295036	Orphanet:295234	\N	"" []	Orphanet:295234	"" []	218879	\N	\N	EFO	1	EFO	Congenital patella dislocation	Congenital patella dislocation, unilateral
Orphanet:294951	Orphanet:295036	\N	"" []	Orphanet:295234	"" []	574073	\N	\N	EFO	2	EFO	Congenital joint dislocations	Congenital patella dislocation, unilateral
Orphanet:109011	Orphanet:294951	\N	"" []	Orphanet:295234	"" []	1156770	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Congenital patella dislocation, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295234	"" []	2039776	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital patella dislocation, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295234	"" []	3190122	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital patella dislocation, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295234	"" []	4397063	\N	\N	EFO	6	EFO	genetic disorder	Congenital patella dislocation, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295234	"" []	5414697	\N	\N	EFO	7	EFO	disease	Congenital patella dislocation, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295234	"" []	6150885	\N	\N	EFO	8	EFO	disposition	Congenital patella dislocation, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295234	"" []	6633424	\N	\N	EFO	9	EFO	material property	Congenital patella dislocation, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295234	"" []	6926004	\N	\N	EFO	10	EFO	experimental factor	Congenital patella dislocation, unilateral
Orphanet:295237	\N	\N	"" []	Orphanet:295237	"" []	76083	\N	\N	EFO	0	EFO	Congenital patella dislocation, bilateral	Congenital patella dislocation, bilateral
Orphanet:295036	Orphanet:295237	\N	"" []	Orphanet:295237	"" []	218880	\N	\N	EFO	1	EFO	Congenital patella dislocation	Congenital patella dislocation, bilateral
Orphanet:294951	Orphanet:295036	\N	"" []	Orphanet:295237	"" []	574074	\N	\N	EFO	2	EFO	Congenital joint dislocations	Congenital patella dislocation, bilateral
Orphanet:109011	Orphanet:294951	\N	"" []	Orphanet:295237	"" []	1156771	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Congenital patella dislocation, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295237	"" []	2039777	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Congenital patella dislocation, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295237	"" []	3190123	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital patella dislocation, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295237	"" []	4397064	\N	\N	EFO	6	EFO	genetic disorder	Congenital patella dislocation, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295237	"" []	5414698	\N	\N	EFO	7	EFO	disease	Congenital patella dislocation, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295237	"" []	6150886	\N	\N	EFO	8	EFO	disposition	Congenital patella dislocation, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295237	"" []	6633425	\N	\N	EFO	9	EFO	material property	Congenital patella dislocation, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295237	"" []	6926005	\N	\N	EFO	10	EFO	experimental factor	Congenital patella dislocation, bilateral
Orphanet:295239	\N	\N	"" []	Orphanet:295239	"" []	76084	\N	\N	EFO	0	EFO	Macrodactyly of fingers, unilateral	Macrodactyly of fingers, unilateral
Orphanet:295044	Orphanet:295239	\N	"" []	Orphanet:295239	"" []	218881	\N	\N	EFO	1	EFO	Macrodactyly of fingers	Macrodactyly of fingers, unilateral
Orphanet:294953	Orphanet:295044	\N	"" []	Orphanet:295239	"" []	574075	\N	\N	EFO	2	EFO	Limb overgrowth	Macrodactyly of fingers, unilateral
Orphanet:109011	Orphanet:294953	\N	"" []	Orphanet:295239	"" []	1156772	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Macrodactyly of fingers, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295239	"" []	2039778	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Macrodactyly of fingers, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295239	"" []	3190124	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Macrodactyly of fingers, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295239	"" []	4397065	\N	\N	EFO	6	EFO	genetic disorder	Macrodactyly of fingers, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295239	"" []	5414699	\N	\N	EFO	7	EFO	disease	Macrodactyly of fingers, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295239	"" []	6150887	\N	\N	EFO	8	EFO	disposition	Macrodactyly of fingers, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295239	"" []	6633426	\N	\N	EFO	9	EFO	material property	Macrodactyly of fingers, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295239	"" []	6926006	\N	\N	EFO	10	EFO	experimental factor	Macrodactyly of fingers, unilateral
Orphanet:295241	\N	\N	"" []	Orphanet:295241	"" []	76085	\N	\N	EFO	0	EFO	Macrodactyly of fingers, bilateral	Macrodactyly of fingers, bilateral
Orphanet:295044	Orphanet:295241	\N	"" []	Orphanet:295241	"" []	218882	\N	\N	EFO	1	EFO	Macrodactyly of fingers	Macrodactyly of fingers, bilateral
Orphanet:294953	Orphanet:295044	\N	"" []	Orphanet:295241	"" []	574076	\N	\N	EFO	2	EFO	Limb overgrowth	Macrodactyly of fingers, bilateral
Orphanet:109011	Orphanet:294953	\N	"" []	Orphanet:295241	"" []	1156773	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Macrodactyly of fingers, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295241	"" []	2039779	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Macrodactyly of fingers, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295241	"" []	3190125	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Macrodactyly of fingers, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295241	"" []	4397066	\N	\N	EFO	6	EFO	genetic disorder	Macrodactyly of fingers, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295241	"" []	5414700	\N	\N	EFO	7	EFO	disease	Macrodactyly of fingers, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295241	"" []	6150888	\N	\N	EFO	8	EFO	disposition	Macrodactyly of fingers, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295241	"" []	6633427	\N	\N	EFO	9	EFO	material property	Macrodactyly of fingers, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295241	"" []	6926007	\N	\N	EFO	10	EFO	experimental factor	Macrodactyly of fingers, bilateral
Orphanet:295243	\N	\N	"" []	Orphanet:295243	"" []	76086	\N	\N	EFO	0	EFO	Macrodactyly of toes, unilateral	Macrodactyly of toes, unilateral
Orphanet:295047	Orphanet:295243	\N	"" []	Orphanet:295243	"" []	218883	\N	\N	EFO	1	EFO	Macrodactyly of toes	Macrodactyly of toes, unilateral
Orphanet:294953	Orphanet:295047	\N	"" []	Orphanet:295243	"" []	574077	\N	\N	EFO	2	EFO	Limb overgrowth	Macrodactyly of toes, unilateral
Orphanet:109011	Orphanet:294953	\N	"" []	Orphanet:295243	"" []	1156774	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Macrodactyly of toes, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295243	"" []	2039780	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Macrodactyly of toes, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295243	"" []	3190126	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Macrodactyly of toes, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295243	"" []	4397067	\N	\N	EFO	6	EFO	genetic disorder	Macrodactyly of toes, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295243	"" []	5414701	\N	\N	EFO	7	EFO	disease	Macrodactyly of toes, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295243	"" []	6150889	\N	\N	EFO	8	EFO	disposition	Macrodactyly of toes, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295243	"" []	6633428	\N	\N	EFO	9	EFO	material property	Macrodactyly of toes, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295243	"" []	6926008	\N	\N	EFO	10	EFO	experimental factor	Macrodactyly of toes, unilateral
Orphanet:295245	\N	\N	"" []	Orphanet:295245	"" []	76087	\N	\N	EFO	0	EFO	Macrodactyly of toes, bilateral	Macrodactyly of toes, bilateral
Orphanet:295047	Orphanet:295245	\N	"" []	Orphanet:295245	"" []	218884	\N	\N	EFO	1	EFO	Macrodactyly of toes	Macrodactyly of toes, bilateral
Orphanet:294953	Orphanet:295047	\N	"" []	Orphanet:295245	"" []	574078	\N	\N	EFO	2	EFO	Limb overgrowth	Macrodactyly of toes, bilateral
Orphanet:109011	Orphanet:294953	\N	"" []	Orphanet:295245	"" []	1156775	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Macrodactyly of toes, bilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:295245	"" []	2039781	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Macrodactyly of toes, bilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:295245	"" []	3190127	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Macrodactyly of toes, bilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:295245	"" []	4397068	\N	\N	EFO	6	EFO	genetic disorder	Macrodactyly of toes, bilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:295245	"" []	5414702	\N	\N	EFO	7	EFO	disease	Macrodactyly of toes, bilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:295245	"" []	6150890	\N	\N	EFO	8	EFO	disposition	Macrodactyly of toes, bilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:295245	"" []	6633429	\N	\N	EFO	9	EFO	material property	Macrodactyly of toes, bilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:295245	"" []	6926009	\N	\N	EFO	10	EFO	experimental factor	Macrodactyly of toes, bilateral
Orphanet:2953	\N	\N	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	76088	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, musculocontractural type	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:309450	Orphanet:2953	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	218885	\N	\N	EFO	1	EFO	Disorder of O-xylosylglycan synthesis	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:371047	Orphanet:2953	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	218886	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:371183	Orphanet:2953	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	218887	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with cardiac malformation as a major feature	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:371200	Orphanet:2953	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	218888	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:371207	Orphanet:2953	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	218889	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with nephropathy as a major feature	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:97120	Orphanet:2953	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	218890	\N	\N	EFO	1	EFO	Distal arthrogryposis	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:98249	Orphanet:2953	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	218891	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:309447	Orphanet:309450	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	574079	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	574080	\N	\N	EFO	2	EFO	Neurometabolic disease	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:156532	Orphanet:371183	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	574081	\N	\N	EFO	2	EFO	Rare syndrome with cardiac malformations	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:371235	Orphanet:371183	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	574082	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	574083	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:93593	Orphanet:371207	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	574084	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	574085	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	574086	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	574087	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	574088	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	574089	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	1156776	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	1156777	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	1156778	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	1156779	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	1156780	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	1156781	\N	\N	EFO	3	EFO	Rare genetic renal disease	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	1156782	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	1156783	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	1156784	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	1156785	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	1156786	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	2039782	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	2039783	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	2039784	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, musculocontractural type
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	2039785	\N	\N	EFO	4	EFO	heart disease	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	2039786	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	3190135	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	3190136	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	2039789	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	2039790	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	4397071	\N	\N	EFO	6	EFO	genetic disorder	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	2039792	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	5059935	\N	\N	EFO	7	EFO	disease	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	3190128	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	3190129	\N	\N	EFO	5	EFO	metabolic disease	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	3190131	\N	\N	EFO	5	EFO	cardiovascular disease	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	4133807	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	3190134	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, musculocontractural type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	5817686	\N	\N	EFO	8	EFO	disposition	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	4397069	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	4397070	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, musculocontractural type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	6410107	\N	\N	EFO	9	EFO	material property	Ehlers-Danlos syndrome, musculocontractural type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2953	"Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." []	6807946	\N	\N	EFO	10	EFO	experimental factor	Ehlers-Danlos syndrome, musculocontractural type
Orphanet:2956	\N	\N	"" []	Orphanet:2956	"" []	76089	\N	\N	EFO	0	EFO	Prata-Liberal-Goncalves syndrome	Prata-Liberal-Goncalves syndrome
Orphanet:69028	Orphanet:2956	\N	"" []	Orphanet:2956	"" []	218892	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Prata-Liberal-Goncalves syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:2956	"" []	574090	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Prata-Liberal-Goncalves syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:2956	"" []	574091	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Prata-Liberal-Goncalves syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2956	"" []	1156787	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Prata-Liberal-Goncalves syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2956	"" []	1156788	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Prata-Liberal-Goncalves syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2956	"" []	2039794	\N	\N	EFO	4	EFO	Rare genetic bone disease	Prata-Liberal-Goncalves syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2956	"" []	2039795	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Prata-Liberal-Goncalves syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2956	"" []	2039796	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Prata-Liberal-Goncalves syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2956	"" []	3190138	\N	\N	EFO	5	EFO	genetic disorder	Prata-Liberal-Goncalves syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2956	"" []	3190139	\N	\N	EFO	5	EFO	bone disease	Prata-Liberal-Goncalves syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2956	"" []	3190140	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Prata-Liberal-Goncalves syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2956	"" []	4397075	\N	\N	EFO	6	EFO	genetic disorder	Prata-Liberal-Goncalves syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2956	"" []	5182500	\N	\N	EFO	7	EFO	disease	Prata-Liberal-Goncalves syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2956	"" []	4397074	\N	\N	EFO	6	EFO	skeletal system disease	Prata-Liberal-Goncalves syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2956	"" []	5997871	\N	\N	EFO	8	EFO	disposition	Prata-Liberal-Goncalves syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2956	"" []	5414705	\N	\N	EFO	7	EFO	disease	Prata-Liberal-Goncalves syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2956	"" []	6551212	\N	\N	EFO	9	EFO	material property	Prata-Liberal-Goncalves syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2956	"" []	6889354	\N	\N	EFO	10	EFO	experimental factor	Prata-Liberal-Goncalves syndrome
Orphanet:2957	\N	\N	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	76090	\N	\N	EFO	0	EFO	Guttmacher syndrome	Guttmacher syndrome
Orphanet:165707	Orphanet:2957	\N	"" []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	218893	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Guttmacher syndrome
Orphanet:294959	Orphanet:2957	\N	"" []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	218894	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Guttmacher syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	574092	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Guttmacher syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	574093	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Guttmacher syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	574094	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Guttmacher syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	1156789	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Guttmacher syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	1156790	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Guttmacher syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	1156791	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Guttmacher syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	2039797	\N	\N	EFO	4	EFO	genetic disorder	Guttmacher syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	2039798	\N	\N	EFO	4	EFO	Rare genetic bone disease	Guttmacher syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	2039799	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Guttmacher syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	2039800	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Guttmacher syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	5182502	\N	\N	EFO	7	EFO	disease	Guttmacher syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	3190143	\N	\N	EFO	5	EFO	genetic disorder	Guttmacher syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	3190144	\N	\N	EFO	5	EFO	bone disease	Guttmacher syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	3190145	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Guttmacher syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	4397079	\N	\N	EFO	6	EFO	genetic disorder	Guttmacher syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	5877260	\N	\N	EFO	8	EFO	disposition	Guttmacher syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	4397078	\N	\N	EFO	6	EFO	skeletal system disease	Guttmacher syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	6470488	\N	\N	EFO	9	EFO	material property	Guttmacher syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	5414707	\N	\N	EFO	7	EFO	disease	Guttmacher syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2957	"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." []	6848560	\N	\N	EFO	10	EFO	experimental factor	Guttmacher syndrome
Orphanet:2958	\N	\N	"" []	Orphanet:2958	"" []	76091	\N	\N	EFO	0	EFO	X-linked intellectual disability - dysmorphism - cerebral atrophy	X-linked intellectual disability - dysmorphism - cerebral atrophy
Orphanet:98464	Orphanet:2958	\N	"" []	Orphanet:2958	"" []	218895	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - dysmorphism - cerebral atrophy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:2958	"" []	574095	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - dysmorphism - cerebral atrophy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2958	"" []	1156792	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - dysmorphism - cerebral atrophy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2958	"" []	2039801	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - dysmorphism - cerebral atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2958	"" []	3190147	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - dysmorphism - cerebral atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2958	"" []	4397080	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - dysmorphism - cerebral atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2958	"" []	5414708	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - dysmorphism - cerebral atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2958	"" []	6150893	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - dysmorphism - cerebral atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2958	"" []	6633431	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - dysmorphism - cerebral atrophy
Orphanet:2959	\N	\N	"" []	Orphanet:2959	"" []	76092	\N	\N	EFO	0	EFO	Progria - short stature - pigmented nevi	Progria - short stature - pigmented nevi
Orphanet:139027	Orphanet:2959	\N	"" []	Orphanet:2959	"" []	218896	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Progria - short stature - pigmented nevi
Orphanet:363245	Orphanet:2959	\N	"" []	Orphanet:2959	"" []	218897	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Progria - short stature - pigmented nevi
Orphanet:79389	Orphanet:2959	\N	"" []	Orphanet:2959	"" []	218898	\N	\N	EFO	1	EFO	Premature aging	Progria - short stature - pigmented nevi
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2959	"" []	574096	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Progria - short stature - pigmented nevi
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:2959	"" []	574097	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Progria - short stature - pigmented nevi
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:2959	"" []	574098	\N	\N	EFO	2	EFO	Rare genetic skin disease	Progria - short stature - pigmented nevi
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2959	"" []	1156793	\N	\N	EFO	3	EFO	genetic disorder	Progria - short stature - pigmented nevi
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2959	"" []	1156794	\N	\N	EFO	3	EFO	genetic disorder	Progria - short stature - pigmented nevi
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2959	"" []	1156795	\N	\N	EFO	3	EFO	skin disease	Progria - short stature - pigmented nevi
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2959	"" []	2039802	\N	\N	EFO	4	EFO	disease	Progria - short stature - pigmented nevi
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2959	"" []	2039803	\N	\N	EFO	4	EFO	disease	Progria - short stature - pigmented nevi
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2959	"" []	3190148	\N	\N	EFO	5	EFO	disposition	Progria - short stature - pigmented nevi
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2959	"" []	4397081	\N	\N	EFO	6	EFO	material property	Progria - short stature - pigmented nevi
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2959	"" []	5414709	\N	\N	EFO	7	EFO	experimental factor	Progria - short stature - pigmented nevi
Orphanet:296	\N	\N	"" []	Orphanet:296	"" []	76093	\N	\N	EFO	0	EFO	Enchondromatosis	Enchondromatosis
Orphanet:140162	Orphanet:296	\N	"" []	Orphanet:296	"" []	218899	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Enchondromatosis
Orphanet:183527	Orphanet:296	\N	"" []	Orphanet:296	"" []	218900	\N	\N	EFO	1	EFO	Genetic bone tumor	Enchondromatosis
Orphanet:93450	Orphanet:296	\N	"" []	Orphanet:296	"" []	218901	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Enchondromatosis
Orphanet:93460	Orphanet:296	\N	"" []	Orphanet:296	"" []	218902	\N	\N	EFO	1	EFO	Overgrowth syndrome	Enchondromatosis
Orphanet:98196	Orphanet:296	\N	"" []	Orphanet:296	"" []	218903	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Enchondromatosis
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:296	"" []	574099	\N	\N	EFO	2	EFO	genetic disorder	Enchondromatosis
EFO:0003820	Orphanet:183527	\N	"Tumors or cancer located in bone tissue or specific BONES." []	Orphanet:296	"" []	574100	\N	\N	EFO	2	EFO	bone neoplasm	Enchondromatosis
EFO:0004260	Orphanet:183527	\N	"Diseases of BONES." []	Orphanet:296	"" []	574101	\N	\N	EFO	2	EFO	bone disease	Enchondromatosis
Orphanet:68336	Orphanet:183527	\N	"" []	Orphanet:296	"" []	574102	\N	\N	EFO	2	EFO	Rare genetic tumor	Enchondromatosis
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:296	"" []	574103	\N	\N	EFO	2	EFO	Primary bone dysplasia	Enchondromatosis
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:296	"" []	574104	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Enchondromatosis
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:296	"" []	574105	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Enchondromatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:296	"" []	4066923	\N	\N	EFO	6	EFO	disease	Enchondromatosis
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:296	"" []	1156797	\N	\N	EFO	3	EFO	neoplasm	Enchondromatosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:296	"" []	3190150	\N	\N	EFO	5	EFO	skeletal system disease	Enchondromatosis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:296	"" []	1156799	\N	\N	EFO	3	EFO	genetic disorder	Enchondromatosis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:296	"" []	1156800	\N	\N	EFO	3	EFO	neoplasm	Enchondromatosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:296	"" []	1156801	\N	\N	EFO	3	EFO	Rare genetic bone disease	Enchondromatosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:296	"" []	1156802	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Enchondromatosis
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:296	"" []	1156803	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Enchondromatosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:296	"" []	3190151	\N	\N	EFO	5	EFO	genetic disorder	Enchondromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:296	"" []	5028435	\N	\N	EFO	7	EFO	disposition	Enchondromatosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:296	"" []	2039805	\N	\N	EFO	4	EFO	disease	Enchondromatosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:296	"" []	4066922	\N	\N	EFO	6	EFO	disease	Enchondromatosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:296	"" []	2039808	\N	\N	EFO	4	EFO	genetic disorder	Enchondromatosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:296	"" []	2039809	\N	\N	EFO	4	EFO	bone disease	Enchondromatosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:296	"" []	2039810	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Enchondromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:296	"" []	5817687	\N	\N	EFO	8	EFO	material property	Enchondromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:296	"" []	6410108	\N	\N	EFO	9	EFO	experimental factor	Enchondromatosis
Orphanet:2962	\N	\N	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	76094	\N	\N	EFO	0	EFO	De Barsy syndrome	De Barsy syndrome
Orphanet:207018	Orphanet:2962	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	218904	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	De Barsy syndrome
Orphanet:209	Orphanet:2962	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	218905	\N	\N	EFO	1	EFO	Cutis laxa	De Barsy syndrome
Orphanet:289866	Orphanet:2962	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	218906	\N	\N	EFO	1	EFO	Disorder of proline metabolism	De Barsy syndrome
Orphanet:68385	Orphanet:2962	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	218907	\N	\N	EFO	1	EFO	Neurometabolic disease	De Barsy syndrome
Orphanet:79389	Orphanet:2962	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	218908	\N	\N	EFO	1	EFO	Premature aging	De Barsy syndrome
Orphanet:98628	Orphanet:2962	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	218909	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	De Barsy syndrome
Orphanet:98644	Orphanet:2962	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	218910	\N	\N	EFO	1	EFO	Cataract associated with a metabolic disease	De Barsy syndrome
Orphanet:98712	Orphanet:2962	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	218911	\N	\N	EFO	1	EFO	Metabolic disease with cataract	De Barsy syndrome
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	574106	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	De Barsy syndrome
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	574107	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	De Barsy syndrome
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	574108	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	De Barsy syndrome
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	574109	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	De Barsy syndrome
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	574110	\N	\N	EFO	2	EFO	Congenital entropion	De Barsy syndrome
Orphanet:79185	Orphanet:289866	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	574111	\N	\N	EFO	2	EFO	Disorder of ornithine or proline metabolism	De Barsy syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	574112	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	De Barsy syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	574113	\N	\N	EFO	2	EFO	Rare genetic skin disease	De Barsy syndrome
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	574114	\N	\N	EFO	2	EFO	Corneal dystrophy	De Barsy syndrome
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	574115	\N	\N	EFO	2	EFO	Systemic disease with cataract	De Barsy syndrome
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	574116	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	De Barsy syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	1156805	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	De Barsy syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	1156806	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	De Barsy syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	1156807	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	De Barsy syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	1156808	\N	\N	EFO	3	EFO	Genetic dermis disorder	De Barsy syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	1156809	\N	\N	EFO	3	EFO	Eyelids malposition disorder	De Barsy syndrome
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	1156810	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	De Barsy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	3190152	\N	\N	EFO	5	EFO	genetic disorder	De Barsy syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	3190154	\N	\N	EFO	5	EFO	genetic disorder	De Barsy syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	3190155	\N	\N	EFO	5	EFO	skin disease	De Barsy syndrome
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	1156814	\N	\N	EFO	3	EFO	Rare genetic eye disease	De Barsy syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	1156815	\N	\N	EFO	3	EFO	Syndromic cataract	De Barsy syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	1156816	\N	\N	EFO	3	EFO	Rare genetic eye disease	De Barsy syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	2039812	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	De Barsy syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	2039813	\N	\N	EFO	4	EFO	genetic disorder	De Barsy syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	2039814	\N	\N	EFO	4	EFO	Rare genetic skin disease	De Barsy syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	2039815	\N	\N	EFO	4	EFO	Rare palpebral disease	De Barsy syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	2039816	\N	\N	EFO	4	EFO	Inborn errors of metabolism	De Barsy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	5817688	\N	\N	EFO	8	EFO	disease	De Barsy syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	4066925	\N	\N	EFO	6	EFO	disease	De Barsy syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	5414710	\N	\N	EFO	7	EFO	genetic disorder	De Barsy syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	5414711	\N	\N	EFO	7	EFO	eye disease	De Barsy syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	2039821	\N	\N	EFO	4	EFO	Rare cataract	De Barsy syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	3190156	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	De Barsy syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	3190157	\N	\N	EFO	5	EFO	genetic disorder	De Barsy syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	3190158	\N	\N	EFO	5	EFO	metabolic disease	De Barsy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	6378920	\N	\N	EFO	9	EFO	disposition	De Barsy syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	5817689	\N	\N	EFO	8	EFO	disease	De Barsy syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	3190161	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	De Barsy syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	4397083	\N	\N	EFO	6	EFO	Rare genetic eye disease	De Barsy syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	4397084	\N	\N	EFO	6	EFO	disease	De Barsy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	6778724	\N	\N	EFO	10	EFO	material property	De Barsy syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	4397086	\N	\N	EFO	6	EFO	Rare genetic eye disease	De Barsy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2962	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	7029918	\N	\N	EFO	11	EFO	experimental factor	De Barsy syndrome
Orphanet:2963	\N	\N	"" []	Orphanet:2963	"" []	76095	\N	\N	EFO	0	EFO	Progeroid syndrome, Petty type	Progeroid syndrome, Petty type
Orphanet:79389	Orphanet:2963	\N	"" []	Orphanet:2963	"" []	218912	\N	\N	EFO	1	EFO	Premature aging	Progeroid syndrome, Petty type
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:2963	"" []	574117	\N	\N	EFO	2	EFO	Rare genetic skin disease	Progeroid syndrome, Petty type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2963	"" []	1156817	\N	\N	EFO	3	EFO	genetic disorder	Progeroid syndrome, Petty type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2963	"" []	1156818	\N	\N	EFO	3	EFO	skin disease	Progeroid syndrome, Petty type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2963	"" []	2039822	\N	\N	EFO	4	EFO	disease	Progeroid syndrome, Petty type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2963	"" []	2039823	\N	\N	EFO	4	EFO	disease	Progeroid syndrome, Petty type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2963	"" []	3190162	\N	\N	EFO	5	EFO	disposition	Progeroid syndrome, Petty type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2963	"" []	4397087	\N	\N	EFO	6	EFO	material property	Progeroid syndrome, Petty type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2963	"" []	5414713	\N	\N	EFO	7	EFO	experimental factor	Progeroid syndrome, Petty type
Orphanet:2964	\N	\N	"" []	Orphanet:2964	"" []	76096	\N	\N	EFO	0	EFO	Autosomal dominant prognathism	Autosomal dominant prognathism
Orphanet:330206	Orphanet:2964	\N	"" []	Orphanet:2964	"" []	218913	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Autosomal dominant prognathism
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2964	"" []	574118	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Autosomal dominant prognathism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2964	"" []	1156819	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant prognathism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2964	"" []	2039824	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant prognathism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2964	"" []	3190163	\N	\N	EFO	5	EFO	disease	Autosomal dominant prognathism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2964	"" []	4397088	\N	\N	EFO	6	EFO	disposition	Autosomal dominant prognathism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2964	"" []	5414714	\N	\N	EFO	7	EFO	material property	Autosomal dominant prognathism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2964	"" []	6150894	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant prognathism
Orphanet:2966	\N	\N	"" []	Orphanet:2966	"" []	76097	\N	\N	EFO	0	EFO	Properdin deficiency	Properdin deficiency
Orphanet:101992	Orphanet:2966	\N	"" []	Orphanet:2966	"" []	218914	\N	\N	EFO	1	EFO	Immunodeficiency due to a complement cascade protein anomaly	Properdin deficiency
Orphanet:101988	Orphanet:101992	\N	"" []	Orphanet:2966	"" []	574119	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Properdin deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:2966	"" []	1156820	\N	\N	EFO	3	EFO	Primary immunodeficiency	Properdin deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:2966	"" []	2039825	\N	\N	EFO	4	EFO	Rare genetic immune disease	Properdin deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2966	"" []	3190164	\N	\N	EFO	5	EFO	genetic disorder	Properdin deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:2966	"" []	3190165	\N	\N	EFO	5	EFO	immune system disease	Properdin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2966	"" []	4397089	\N	\N	EFO	6	EFO	disease	Properdin deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2966	"" []	4397090	\N	\N	EFO	6	EFO	disease	Properdin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2966	"" []	5414715	\N	\N	EFO	7	EFO	disposition	Properdin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2966	"" []	6150895	\N	\N	EFO	8	EFO	material property	Properdin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2966	"" []	6633432	\N	\N	EFO	9	EFO	experimental factor	Properdin deficiency
Orphanet:2967	\N	\N	"" []	Orphanet:2967	"" []	76098	\N	\N	EFO	0	EFO	Protein R deficiency	Protein R deficiency
Orphanet:79171	Orphanet:2967	\N	"" []	Orphanet:2967	"" []	218915	\N	\N	EFO	1	EFO	Disorder of cobalamin metabolism and transport	Protein R deficiency
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:2967	"" []	574120	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Protein R deficiency
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:2967	"" []	574121	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Protein R deficiency
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2967	"" []	1156821	\N	\N	EFO	3	EFO	metabolic disease	Protein R deficiency
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:2967	"" []	1156822	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Protein R deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2967	"" []	4397093	\N	\N	EFO	6	EFO	disease	Protein R deficiency
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:2967	"" []	2039827	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Protein R deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2967	"" []	5059939	\N	\N	EFO	7	EFO	disposition	Protein R deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2967	"" []	3190167	\N	\N	EFO	5	EFO	genetic disorder	Protein R deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2967	"" []	3190168	\N	\N	EFO	5	EFO	metabolic disease	Protein R deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2967	"" []	5877263	\N	\N	EFO	8	EFO	material property	Protein R deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2967	"" []	4397092	\N	\N	EFO	6	EFO	disease	Protein R deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2967	"" []	6470490	\N	\N	EFO	9	EFO	experimental factor	Protein R deficiency
Orphanet:2968	\N	\N	"" []	Orphanet:2968	"" []	76099	\N	\N	EFO	0	EFO	Leukocyte adhesion deficiency	Leukocyte adhesion deficiency
Orphanet:183681	Orphanet:2968	\N	"" []	Orphanet:2968	"" []	218916	\N	\N	EFO	1	EFO	Functional neutrophil defect	Leukocyte adhesion deficiency
Orphanet:101988	Orphanet:183681	\N	"" []	Orphanet:2968	"" []	574122	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Leukocyte adhesion deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:2968	"" []	1156823	\N	\N	EFO	3	EFO	Primary immunodeficiency	Leukocyte adhesion deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:2968	"" []	2039828	\N	\N	EFO	4	EFO	Rare genetic immune disease	Leukocyte adhesion deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2968	"" []	3190169	\N	\N	EFO	5	EFO	genetic disorder	Leukocyte adhesion deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:2968	"" []	3190170	\N	\N	EFO	5	EFO	immune system disease	Leukocyte adhesion deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2968	"" []	4397094	\N	\N	EFO	6	EFO	disease	Leukocyte adhesion deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2968	"" []	4397095	\N	\N	EFO	6	EFO	disease	Leukocyte adhesion deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2968	"" []	5414717	\N	\N	EFO	7	EFO	disposition	Leukocyte adhesion deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2968	"" []	6150896	\N	\N	EFO	8	EFO	material property	Leukocyte adhesion deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2968	"" []	6633433	\N	\N	EFO	9	EFO	experimental factor	Leukocyte adhesion deficiency
Orphanet:2969	\N	\N	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	76100	\N	\N	EFO	0	EFO	Proteus-like syndrome	Proteus-like syndrome
Orphanet:183487	Orphanet:2969	\N	"" []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	218917	\N	\N	EFO	1	EFO	Genetic skin tumor	Proteus-like syndrome
Orphanet:306498	Orphanet:2969	\N	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	218918	\N	\N	EFO	1	EFO	PTEN hamartoma tumor syndrome	Proteus-like syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	574123	\N	\N	EFO	2	EFO	skin neoplasm	Proteus-like syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	574124	\N	\N	EFO	2	EFO	Rare genetic tumor	Proteus-like syndrome
Orphanet:183422	Orphanet:306498	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	574125	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Proteus-like syndrome
Orphanet:98196	Orphanet:306498	\N	"" []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	574126	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	Proteus-like syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	1156824	\N	\N	EFO	3	EFO	neoplasm	Proteus-like syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	1156825	\N	\N	EFO	3	EFO	skin disease	Proteus-like syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	1156826	\N	\N	EFO	3	EFO	genetic disorder	Proteus-like syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	1156827	\N	\N	EFO	3	EFO	neoplasm	Proteus-like syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	1156828	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Proteus-like syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	1156829	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Proteus-like syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	2039829	\N	\N	EFO	4	EFO	disease	Proteus-like syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	2039830	\N	\N	EFO	4	EFO	disease	Proteus-like syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	3190172	\N	\N	EFO	5	EFO	disease	Proteus-like syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	2039832	\N	\N	EFO	4	EFO	genetic disorder	Proteus-like syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	2039833	\N	\N	EFO	4	EFO	genetic disorder	Proteus-like syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	4133811	\N	\N	EFO	6	EFO	disposition	Proteus-like syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	5182505	\N	\N	EFO	7	EFO	material property	Proteus-like syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2969	"Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." []	5997874	\N	\N	EFO	8	EFO	experimental factor	Proteus-like syndrome
Orphanet:2970	\N	\N	"" []	Orphanet:2970	"" []	76101	\N	\N	EFO	0	EFO	Prune belly syndrome	Prune belly syndrome
Orphanet:165707	Orphanet:2970	\N	"" []	Orphanet:2970	"" []	218919	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Prune belly syndrome
Orphanet:357506	Orphanet:2970	\N	"" []	Orphanet:2970	"" []	218920	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Prune belly syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:2970	"" []	574127	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Prune belly syndrome
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:2970	"" []	574128	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Prune belly syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:2970	"" []	1156830	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Prune belly syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:2970	"" []	1156831	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Prune belly syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:2970	"" []	1156832	\N	\N	EFO	3	EFO	Rare genetic renal disease	Prune belly syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2970	"" []	2039834	\N	\N	EFO	4	EFO	genetic disorder	Prune belly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2970	"" []	2039835	\N	\N	EFO	4	EFO	genetic disorder	Prune belly syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2970	"" []	2039836	\N	\N	EFO	4	EFO	genetic disorder	Prune belly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2970	"" []	3190173	\N	\N	EFO	5	EFO	disease	Prune belly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2970	"" []	4397097	\N	\N	EFO	6	EFO	disposition	Prune belly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2970	"" []	5414719	\N	\N	EFO	7	EFO	material property	Prune belly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2970	"" []	6150897	\N	\N	EFO	8	EFO	experimental factor	Prune belly syndrome
Orphanet:2971	\N	\N	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	Orphanet:2971	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	76102	\N	\N	EFO	0	EFO	Peroxisomal acyl-CoA oxidase deficiency	Peroxisomal acyl-CoA oxidase deficiency
Orphanet:79188	Orphanet:2971	\N	"" []	Orphanet:2971	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	218921	\N	\N	EFO	1	EFO	Peroxisomal beta-oxidation disorder	Peroxisomal acyl-CoA oxidase deficiency
Orphanet:309810	Orphanet:79188	\N	"" []	Orphanet:2971	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	574129	\N	\N	EFO	2	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	Peroxisomal acyl-CoA oxidase deficiency
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:2971	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	1156833	\N	\N	EFO	3	EFO	Peroxisomal disease	Peroxisomal acyl-CoA oxidase deficiency
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:2971	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	2039837	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Peroxisomal acyl-CoA oxidase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2971	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	3190174	\N	\N	EFO	5	EFO	genetic disorder	Peroxisomal acyl-CoA oxidase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:2971	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	3190175	\N	\N	EFO	5	EFO	metabolic disease	Peroxisomal acyl-CoA oxidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2971	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	4397098	\N	\N	EFO	6	EFO	disease	Peroxisomal acyl-CoA oxidase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2971	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	4397099	\N	\N	EFO	6	EFO	disease	Peroxisomal acyl-CoA oxidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2971	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	5414720	\N	\N	EFO	7	EFO	disposition	Peroxisomal acyl-CoA oxidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2971	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	6150898	\N	\N	EFO	8	EFO	material property	Peroxisomal acyl-CoA oxidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2971	"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." []	6633434	\N	\N	EFO	9	EFO	experimental factor	Peroxisomal acyl-CoA oxidase deficiency
Orphanet:2972	\N	\N	" and deformed ears." []	Orphanet:2972	" and deformed ears." []	76103	\N	\N	EFO	0	EFO	Non-eruption of teeth - maxillary hypoplasia - genu valgum	Non-eruption of teeth - maxillary hypoplasia - genu valgum
Orphanet:183580	Orphanet:2972	\N	"" []	Orphanet:2972	" and deformed ears." []	218922	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Non-eruption of teeth - maxillary hypoplasia - genu valgum
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:2972	" and deformed ears." []	574130	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Non-eruption of teeth - maxillary hypoplasia - genu valgum
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2972	" and deformed ears." []	1156834	\N	\N	EFO	3	EFO	genetic disorder	Non-eruption of teeth - maxillary hypoplasia - genu valgum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2972	" and deformed ears." []	2039838	\N	\N	EFO	4	EFO	disease	Non-eruption of teeth - maxillary hypoplasia - genu valgum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2972	" and deformed ears." []	3190176	\N	\N	EFO	5	EFO	disposition	Non-eruption of teeth - maxillary hypoplasia - genu valgum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2972	" and deformed ears." []	4397100	\N	\N	EFO	6	EFO	material property	Non-eruption of teeth - maxillary hypoplasia - genu valgum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2972	" and deformed ears." []	5414721	\N	\N	EFO	7	EFO	experimental factor	Non-eruption of teeth - maxillary hypoplasia - genu valgum
Orphanet:2973	\N	\N	"" []	Orphanet:2973	"" []	76104	\N	\N	EFO	0	EFO	46,XX disorder of sex development - anorectal anomalies	46,XX disorder of sex development - anorectal anomalies
Orphanet:117573	Orphanet:2973	\N	"" []	Orphanet:2973	"" []	218923	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	46,XX disorder of sex development - anorectal anomalies
Orphanet:325109	Orphanet:2973	\N	"" []	Orphanet:2973	"" []	218924	\N	\N	EFO	1	EFO	Syndrome with 46,XX disorder of sex development	46,XX disorder of sex development - anorectal anomalies
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:2973	"" []	574131	\N	\N	EFO	2	EFO	Anorectal malformation	46,XX disorder of sex development - anorectal anomalies
Orphanet:325697	Orphanet:325109	\N	"" []	Orphanet:2973	"" []	574132	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	46,XX disorder of sex development - anorectal anomalies
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:2973	"" []	1156835	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	46,XX disorder of sex development - anorectal anomalies
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:2973	"" []	1156836	\N	\N	EFO	3	EFO	Genetic disorder of sex development	46,XX disorder of sex development - anorectal anomalies
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:2973	"" []	2039839	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	46,XX disorder of sex development - anorectal anomalies
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:2973	"" []	2039840	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	46,XX disorder of sex development - anorectal anomalies
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:2973	"" []	2039841	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	46,XX disorder of sex development - anorectal anomalies
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:2973	"" []	2039842	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	46,XX disorder of sex development - anorectal anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2973	"" []	3190177	\N	\N	EFO	5	EFO	genetic disorder	46,XX disorder of sex development - anorectal anomalies
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2973	"" []	3190178	\N	\N	EFO	5	EFO	genetic disorder	46,XX disorder of sex development - anorectal anomalies
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2973	"" []	3190179	\N	\N	EFO	5	EFO	genetic disorder	46,XX disorder of sex development - anorectal anomalies
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2973	"" []	3190180	\N	\N	EFO	5	EFO	endocrine system disease	46,XX disorder of sex development - anorectal anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2973	"" []	4397101	\N	\N	EFO	6	EFO	disease	46,XX disorder of sex development - anorectal anomalies
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2973	"" []	4397102	\N	\N	EFO	6	EFO	disease	46,XX disorder of sex development - anorectal anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2973	"" []	5414722	\N	\N	EFO	7	EFO	disposition	46,XX disorder of sex development - anorectal anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2973	"" []	6150899	\N	\N	EFO	8	EFO	material property	46,XX disorder of sex development - anorectal anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2973	"" []	6633435	\N	\N	EFO	9	EFO	experimental factor	46,XX disorder of sex development - anorectal anomalies
Orphanet:2975	\N	\N	"" []	Orphanet:2975	"" []	76105	\N	\N	EFO	0	EFO	46,XX disorder of sex development - skeletal anomalies	46,XX disorder of sex development - skeletal anomalies
Orphanet:325109	Orphanet:2975	\N	"" []	Orphanet:2975	"" []	218925	\N	\N	EFO	1	EFO	Syndrome with 46,XX disorder of sex development	46,XX disorder of sex development - skeletal anomalies
Orphanet:325638	Orphanet:2975	\N	"" []	Orphanet:2975	"" []	218926	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	46,XX disorder of sex development - skeletal anomalies
Orphanet:325697	Orphanet:325109	\N	"" []	Orphanet:2975	"" []	574133	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	46,XX disorder of sex development - skeletal anomalies
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:2975	"" []	574134	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	46,XX disorder of sex development - skeletal anomalies
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:2975	"" []	1156837	\N	\N	EFO	3	EFO	Genetic disorder of sex development	46,XX disorder of sex development - skeletal anomalies
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:2975	"" []	1156838	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	46,XX disorder of sex development - skeletal anomalies
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:2975	"" []	2039843	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	46,XX disorder of sex development - skeletal anomalies
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:2975	"" []	2039844	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	46,XX disorder of sex development - skeletal anomalies
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:2975	"" []	2039845	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	46,XX disorder of sex development - skeletal anomalies
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2975	"" []	2039846	\N	\N	EFO	4	EFO	genetic disorder	46,XX disorder of sex development - skeletal anomalies
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:2975	"" []	2039847	\N	\N	EFO	4	EFO	reproductive system disease	46,XX disorder of sex development - skeletal anomalies
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2975	"" []	3190181	\N	\N	EFO	5	EFO	genetic disorder	46,XX disorder of sex development - skeletal anomalies
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2975	"" []	3190182	\N	\N	EFO	5	EFO	genetic disorder	46,XX disorder of sex development - skeletal anomalies
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2975	"" []	3190183	\N	\N	EFO	5	EFO	endocrine system disease	46,XX disorder of sex development - skeletal anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2975	"" []	3190184	\N	\N	EFO	5	EFO	genetic disorder	46,XX disorder of sex development - skeletal anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2975	"" []	4397103	\N	\N	EFO	6	EFO	disease	46,XX disorder of sex development - skeletal anomalies
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2975	"" []	3190186	\N	\N	EFO	5	EFO	disease	46,XX disorder of sex development - skeletal anomalies
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2975	"" []	4397104	\N	\N	EFO	6	EFO	disease	46,XX disorder of sex development - skeletal anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2975	"" []	5182506	\N	\N	EFO	7	EFO	disposition	46,XX disorder of sex development - skeletal anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2975	"" []	5997875	\N	\N	EFO	8	EFO	material property	46,XX disorder of sex development - skeletal anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2975	"" []	6551214	\N	\N	EFO	9	EFO	experimental factor	46,XX disorder of sex development - skeletal anomalies
Orphanet:2976	\N	\N	"" []	Orphanet:2976	"" []	76106	\N	\N	EFO	0	EFO	Pseudoleprechaunism syndrome, Patterson type	Pseudoleprechaunism syndrome, Patterson type
Orphanet:183637	Orphanet:2976	\N	"" []	Orphanet:2976	"" []	218927	\N	\N	EFO	1	EFO	Rare genetic adrenal disease	Pseudoleprechaunism syndrome, Patterson type
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:2976	"" []	574135	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Pseudoleprechaunism syndrome, Patterson type
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2976	"" []	1156839	\N	\N	EFO	3	EFO	genetic disorder	Pseudoleprechaunism syndrome, Patterson type
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2976	"" []	1156840	\N	\N	EFO	3	EFO	endocrine system disease	Pseudoleprechaunism syndrome, Patterson type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2976	"" []	2039848	\N	\N	EFO	4	EFO	disease	Pseudoleprechaunism syndrome, Patterson type
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2976	"" []	2039849	\N	\N	EFO	4	EFO	disease	Pseudoleprechaunism syndrome, Patterson type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2976	"" []	3190187	\N	\N	EFO	5	EFO	disposition	Pseudoleprechaunism syndrome, Patterson type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2976	"" []	4397106	\N	\N	EFO	6	EFO	material property	Pseudoleprechaunism syndrome, Patterson type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2976	"" []	5414724	\N	\N	EFO	7	EFO	experimental factor	Pseudoleprechaunism syndrome, Patterson type
Orphanet:2978	\N	\N	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	Orphanet:2978	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	76107	\N	\N	EFO	0	EFO	Chronic intestinal pseudoobstruction	Chronic intestinal pseudoobstruction
Orphanet:104009	Orphanet:2978	\N	"" []	Orphanet:2978	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	218928	\N	\N	EFO	1	EFO	Congenital intestinal motility disorder	Chronic intestinal pseudoobstruction
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:2978	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	574136	\N	\N	EFO	2	EFO	Genetic intestinal disease	Chronic intestinal pseudoobstruction
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:2978	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	1156841	\N	\N	EFO	3	EFO	digestive system disease	Chronic intestinal pseudoobstruction
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:2978	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	1156842	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Chronic intestinal pseudoobstruction
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2978	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	2039850	\N	\N	EFO	4	EFO	disease	Chronic intestinal pseudoobstruction
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2978	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	2039851	\N	\N	EFO	4	EFO	genetic disorder	Chronic intestinal pseudoobstruction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2978	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	4397108	\N	\N	EFO	6	EFO	disposition	Chronic intestinal pseudoobstruction
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2978	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	3190189	\N	\N	EFO	5	EFO	disease	Chronic intestinal pseudoobstruction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2978	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	5182507	\N	\N	EFO	7	EFO	material property	Chronic intestinal pseudoobstruction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2978	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	5997876	\N	\N	EFO	8	EFO	experimental factor	Chronic intestinal pseudoobstruction
Orphanet:298	\N	\N	"" []	Orphanet:298	"" []	76108	\N	\N	EFO	0	EFO	Mitochondrial neurogastrointestinal encephalomyopathy	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:225703	Orphanet:298	\N	"" []	Orphanet:298	"" []	218929	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:35698	Orphanet:298	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:298	"" []	218930	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:79193	Orphanet:298	\N	"ANPM" []	Orphanet:298	"" []	218931	\N	\N	EFO	1	EFO	Disorder of pyrimidine metabolism	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:98578	Orphanet:298	\N	"" []	Orphanet:298	"" []	218932	\N	\N	EFO	1	EFO	Ptosis	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:298	"" []	574137	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:298	"" []	574138	\N	\N	EFO	2	EFO	Metabolic disease with intestinal involvement	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:298	"" []	574139	\N	\N	EFO	2	EFO	Mitochondrial myopathy	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:298	"" []	574140	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:298	"" []	574141	\N	\N	EFO	2	EFO	Mitochondrial disease with eye involvement	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:79224	Orphanet:79193	\N	"" []	Orphanet:298	"" []	574142	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:298	"" []	574143	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:298	"" []	1156843	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:298	"" []	1156844	\N	\N	EFO	3	EFO	Genetic intestinal disease	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:298	"" []	1156845	\N	\N	EFO	3	EFO	Muscular lipidosis	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:298	"" []	1156846	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:298	"" []	1156847	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:298	"" []	1156848	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:298	"" []	1156849	\N	\N	EFO	3	EFO	Rare palpebral disease	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:298	"" []	2039852	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:298	"" []	2039853	\N	\N	EFO	4	EFO	digestive system disease	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:298	"" []	2039854	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:298	"" []	2039855	\N	\N	EFO	4	EFO	Metabolic myopathy	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:298	"" []	2039856	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:298	"" []	2039857	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:298	"" []	6150905	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:298	"" []	6150906	\N	\N	EFO	8	EFO	metabolic disease	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:298	"" []	2039860	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:298	"" []	3190190	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:298	"" []	3190191	\N	\N	EFO	5	EFO	disease	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:298	"" []	3190192	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:298	"" []	3190193	\N	\N	EFO	5	EFO	Non-dystrophic myopathy	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:298	"" []	3190194	\N	\N	EFO	5	EFO	Mitochondrial disease	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:298	"" []	4397116	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:298	"" []	4397117	\N	\N	EFO	6	EFO	eye disease	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:298	"" []	6807947	\N	\N	EFO	10	EFO	disease	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:298	"" []	6378922	\N	\N	EFO	9	EFO	disease	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:298	"" []	3190199	\N	\N	EFO	5	EFO	Rare genetic eye disease	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:298	"" []	6633437	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial neurogastrointestinal encephalomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:298	"" []	7015694	\N	\N	EFO	11	EFO	disposition	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:298	"" []	4397112	\N	\N	EFO	6	EFO	Genetic skeletal muscle disease	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:298	"" []	4397113	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:298	"" []	4397114	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:298	"" []	5182509	\N	\N	EFO	7	EFO	disease	Mitochondrial neurogastrointestinal encephalomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:298	"" []	7173641	\N	\N	EFO	12	EFO	material property	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:298	"" []	5414727	\N	\N	EFO	7	EFO	Genetic neuromuscular disease	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:298	"" []	5414728	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:298	"" []	5414729	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:298	"" []	7275683	\N	\N	EFO	13	EFO	experimental factor	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:298	"" []	6150902	\N	\N	EFO	8	EFO	muscular disease	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:298	"" []	6150903	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:298	"" []	6150904	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:298	"" []	6633436	\N	\N	EFO	9	EFO	skeletal system disease	Mitochondrial neurogastrointestinal encephalomyopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:298	"" []	6926010	\N	\N	EFO	10	EFO	disease	Mitochondrial neurogastrointestinal encephalomyopathy
Orphanet:2980	\N	\N	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	76109	\N	\N	EFO	0	EFO	Acro-oto-ocular syndrome	Acro-oto-ocular syndrome
Orphanet:108987	Orphanet:2980	\N	"" []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	218933	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Acro-oto-ocular syndrome
Orphanet:98578	Orphanet:2980	\N	"" []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	218934	\N	\N	EFO	1	EFO	Ptosis	Acro-oto-ocular syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	574144	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Acro-oto-ocular syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	574145	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Acro-oto-ocular syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	1156850	\N	\N	EFO	3	EFO	Rare genetic eye disease	Acro-oto-ocular syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	1156851	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acro-oto-ocular syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	1156852	\N	\N	EFO	3	EFO	Rare palpebral disease	Acro-oto-ocular syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	4397119	\N	\N	EFO	6	EFO	genetic disorder	Acro-oto-ocular syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	4397120	\N	\N	EFO	6	EFO	eye disease	Acro-oto-ocular syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	2039863	\N	\N	EFO	4	EFO	genetic disorder	Acro-oto-ocular syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	2039864	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Acro-oto-ocular syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	5059940	\N	\N	EFO	7	EFO	disease	Acro-oto-ocular syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	5059941	\N	\N	EFO	7	EFO	disease	Acro-oto-ocular syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	3190202	\N	\N	EFO	5	EFO	Rare genetic eye disease	Acro-oto-ocular syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	5877265	\N	\N	EFO	8	EFO	disposition	Acro-oto-ocular syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	6470492	\N	\N	EFO	9	EFO	material property	Acro-oto-ocular syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2980	"Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." []	6848562	\N	\N	EFO	10	EFO	experimental factor	Acro-oto-ocular syndrome
Orphanet:2983	\N	\N	"" []	Orphanet:2983	"" []	76110	\N	\N	EFO	0	EFO	Disorder of sex development - intellectual disability	Disorder of sex development - intellectual disability
Orphanet:183763	Orphanet:2983	\N	"" []	Orphanet:2983	"" []	218935	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Disorder of sex development - intellectual disability
Orphanet:325638	Orphanet:2983	\N	"" []	Orphanet:2983	"" []	218936	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Disorder of sex development - intellectual disability
Orphanet:98087	Orphanet:2983	\N	"" []	Orphanet:2983	"" []	218937	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	Disorder of sex development - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2983	"" []	574146	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Disorder of sex development - intellectual disability
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:2983	"" []	574147	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Disorder of sex development - intellectual disability
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:2983	"" []	574148	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Disorder of sex development - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2983	"" []	1156853	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Disorder of sex development - intellectual disability
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:2983	"" []	1156854	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Disorder of sex development - intellectual disability
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:2983	"" []	1156855	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Disorder of sex development - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2983	"" []	2039865	\N	\N	EFO	4	EFO	genetic disorder	Disorder of sex development - intellectual disability
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2983	"" []	2039866	\N	\N	EFO	4	EFO	genetic disorder	Disorder of sex development - intellectual disability
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:2983	"" []	2039867	\N	\N	EFO	4	EFO	reproductive system disease	Disorder of sex development - intellectual disability
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:2983	"" []	2039868	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Disorder of sex development - intellectual disability
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:2983	"" []	2039869	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Disorder of sex development - intellectual disability
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:2983	"" []	2039870	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Disorder of sex development - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2983	"" []	4397122	\N	\N	EFO	6	EFO	disease	Disorder of sex development - intellectual disability
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2983	"" []	3190204	\N	\N	EFO	5	EFO	disease	Disorder of sex development - intellectual disability
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2983	"" []	3190205	\N	\N	EFO	5	EFO	genetic disorder	Disorder of sex development - intellectual disability
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2983	"" []	3190206	\N	\N	EFO	5	EFO	genetic disorder	Disorder of sex development - intellectual disability
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:2983	"" []	3190207	\N	\N	EFO	5	EFO	endocrine system disease	Disorder of sex development - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2983	"" []	3190208	\N	\N	EFO	5	EFO	genetic disorder	Disorder of sex development - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2983	"" []	5182511	\N	\N	EFO	7	EFO	disposition	Disorder of sex development - intellectual disability
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2983	"" []	4397123	\N	\N	EFO	6	EFO	disease	Disorder of sex development - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2983	"" []	5997878	\N	\N	EFO	8	EFO	material property	Disorder of sex development - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2983	"" []	6551216	\N	\N	EFO	9	EFO	experimental factor	Disorder of sex development - intellectual disability
Orphanet:2985	\N	\N	"" []	Orphanet:2985	"" []	76111	\N	\N	EFO	0	EFO	Pseudoprogeria syndrome	Pseudoprogeria syndrome
Orphanet:102283	Orphanet:2985	\N	"" []	Orphanet:2985	"" []	218938	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Pseudoprogeria syndrome
Orphanet:183763	Orphanet:2985	\N	"" []	Orphanet:2985	"" []	218939	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Pseudoprogeria syndrome
Orphanet:363245	Orphanet:2985	\N	"" []	Orphanet:2985	"" []	218940	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Pseudoprogeria syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2985	"" []	574149	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Pseudoprogeria syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2985	"" []	574150	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Pseudoprogeria syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:2985	"" []	574151	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Pseudoprogeria syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2985	"" []	1156856	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pseudoprogeria syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2985	"" []	1156857	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pseudoprogeria syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2985	"" []	2039871	\N	\N	EFO	4	EFO	genetic disorder	Pseudoprogeria syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2985	"" []	2039872	\N	\N	EFO	4	EFO	genetic disorder	Pseudoprogeria syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2985	"" []	3000289	\N	\N	EFO	5	EFO	disease	Pseudoprogeria syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2985	"" []	4133812	\N	\N	EFO	6	EFO	disposition	Pseudoprogeria syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2985	"" []	5182512	\N	\N	EFO	7	EFO	material property	Pseudoprogeria syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2985	"" []	5997879	\N	\N	EFO	8	EFO	experimental factor	Pseudoprogeria syndrome
Orphanet:298644	\N	\N	"" []	Orphanet:298644	"" []	76112	\N	\N	EFO	0	EFO	Disorder of thiamine metabolism and transport	Disorder of thiamine metabolism and transport
EFO:0005596	Orphanet:298644	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:298644	"" []	218941	\N	\N	EFO	1	EFO	vitamin metabolic disorder	Disorder of thiamine metabolism and transport
Orphanet:309827	Orphanet:298644	\N	"" []	Orphanet:298644	"" []	218942	\N	\N	EFO	1	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Disorder of thiamine metabolism and transport
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:298644	"" []	574152	\N	\N	EFO	2	EFO	metabolic disease	Disorder of thiamine metabolism and transport
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:298644	"" []	574153	\N	\N	EFO	2	EFO	Disorder of metabolite absorption and transport	Disorder of thiamine metabolism and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:298644	"" []	3190212	\N	\N	EFO	5	EFO	disease	Disorder of thiamine metabolism and transport
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:298644	"" []	1156860	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of thiamine metabolism and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:298644	"" []	4066926	\N	\N	EFO	6	EFO	disposition	Disorder of thiamine metabolism and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:298644	"" []	2039875	\N	\N	EFO	4	EFO	genetic disorder	Disorder of thiamine metabolism and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:298644	"" []	2039876	\N	\N	EFO	4	EFO	metabolic disease	Disorder of thiamine metabolism and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:298644	"" []	5059942	\N	\N	EFO	7	EFO	material property	Disorder of thiamine metabolism and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:298644	"" []	3190211	\N	\N	EFO	5	EFO	disease	Disorder of thiamine metabolism and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:298644	"" []	5877266	\N	\N	EFO	8	EFO	experimental factor	Disorder of thiamine metabolism and transport
Orphanet:2987	\N	\N	"" []	Orphanet:2987	"" []	76113	\N	\N	EFO	0	EFO	Antecubital pterygium syndrome	Antecubital pterygium syndrome
Orphanet:183472	Orphanet:2987	\N	"" []	Orphanet:2987	"" []	218943	\N	\N	EFO	1	EFO	Genetic dermis disorder	Antecubital pterygium syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2987	"" []	574154	\N	\N	EFO	2	EFO	Rare genetic skin disease	Antecubital pterygium syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2987	"" []	1156861	\N	\N	EFO	3	EFO	genetic disorder	Antecubital pterygium syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2987	"" []	1156862	\N	\N	EFO	3	EFO	skin disease	Antecubital pterygium syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2987	"" []	2039877	\N	\N	EFO	4	EFO	disease	Antecubital pterygium syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2987	"" []	2039878	\N	\N	EFO	4	EFO	disease	Antecubital pterygium syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2987	"" []	3190213	\N	\N	EFO	5	EFO	disposition	Antecubital pterygium syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2987	"" []	4397126	\N	\N	EFO	6	EFO	material property	Antecubital pterygium syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2987	"" []	5414733	\N	\N	EFO	7	EFO	experimental factor	Antecubital pterygium syndrome
Orphanet:2988	\N	\N	"" []	Orphanet:2988	"" []	76114	\N	\N	EFO	0	EFO	Pterygium colli - intellectual disability - digital anomalies	Pterygium colli - intellectual disability - digital anomalies
Orphanet:102283	Orphanet:2988	\N	"" []	Orphanet:2988	"" []	218944	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Pterygium colli - intellectual disability - digital anomalies
Orphanet:183763	Orphanet:2988	\N	"" []	Orphanet:2988	"" []	218945	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Pterygium colli - intellectual disability - digital anomalies
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2988	"" []	574155	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Pterygium colli - intellectual disability - digital anomalies
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2988	"" []	574156	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Pterygium colli - intellectual disability - digital anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2988	"" []	1156863	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pterygium colli - intellectual disability - digital anomalies
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2988	"" []	1156864	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pterygium colli - intellectual disability - digital anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2988	"" []	2039879	\N	\N	EFO	4	EFO	genetic disorder	Pterygium colli - intellectual disability - digital anomalies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2988	"" []	2039880	\N	\N	EFO	4	EFO	genetic disorder	Pterygium colli - intellectual disability - digital anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2988	"" []	3190214	\N	\N	EFO	5	EFO	disease	Pterygium colli - intellectual disability - digital anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2988	"" []	4397127	\N	\N	EFO	6	EFO	disposition	Pterygium colli - intellectual disability - digital anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2988	"" []	5414734	\N	\N	EFO	7	EFO	material property	Pterygium colli - intellectual disability - digital anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2988	"" []	6150909	\N	\N	EFO	8	EFO	experimental factor	Pterygium colli - intellectual disability - digital anomalies
Orphanet:2989	\N	\N	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	Orphanet:2989	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	76115	\N	\N	EFO	0	EFO	Pterygium of the conjunctiva, familial form	Pterygium of the conjunctiva, familial form
Orphanet:98616	Orphanet:2989	\N	"" []	Orphanet:2989	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	218946	\N	\N	EFO	1	EFO	Conjunctival tumor	Pterygium of the conjunctiva, familial form
Orphanet:98610	Orphanet:98616	\N	"" []	Orphanet:2989	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	574157	\N	\N	EFO	2	EFO	Rare conjunctival disease	Pterygium of the conjunctiva, familial form
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:2989	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	1156865	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Pterygium of the conjunctiva, familial form
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2989	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	2039881	\N	\N	EFO	4	EFO	Rare genetic eye disease	Pterygium of the conjunctiva, familial form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2989	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	3190215	\N	\N	EFO	5	EFO	genetic disorder	Pterygium of the conjunctiva, familial form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2989	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	3190216	\N	\N	EFO	5	EFO	eye disease	Pterygium of the conjunctiva, familial form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2989	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	4397128	\N	\N	EFO	6	EFO	disease	Pterygium of the conjunctiva, familial form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2989	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	4397129	\N	\N	EFO	6	EFO	disease	Pterygium of the conjunctiva, familial form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2989	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	5414735	\N	\N	EFO	7	EFO	disposition	Pterygium of the conjunctiva, familial form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2989	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	6150910	\N	\N	EFO	8	EFO	material property	Pterygium of the conjunctiva, familial form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2989	"Pterygium of the conjunctiva, familial form, is a rare pterygium, inherited autosomal dominantly, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." []	6633438	\N	\N	EFO	9	EFO	experimental factor	Pterygium of the conjunctiva, familial form
Orphanet:2990	\N	\N	"" []	Orphanet:2990	"" []	76116	\N	\N	EFO	0	EFO	Autosomal recessive multiple pterygium syndrome	Autosomal recessive multiple pterygium syndrome
Orphanet:183472	Orphanet:2990	\N	"" []	Orphanet:2990	"" []	218947	\N	\N	EFO	1	EFO	Genetic dermis disorder	Autosomal recessive multiple pterygium syndrome
Orphanet:294060	Orphanet:2990	\N	"" []	Orphanet:2990	"" []	218948	\N	\N	EFO	1	EFO	Multiple pterygium syndrome	Autosomal recessive multiple pterygium syndrome
Orphanet:330206	Orphanet:2990	\N	"" []	Orphanet:2990	"" []	218949	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Autosomal recessive multiple pterygium syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:2990	"" []	574158	\N	\N	EFO	2	EFO	Rare genetic skin disease	Autosomal recessive multiple pterygium syndrome
Orphanet:109007	Orphanet:294060	\N	"" []	Orphanet:2990	"" []	574159	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Autosomal recessive multiple pterygium syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2990	"" []	574160	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Autosomal recessive multiple pterygium syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2990	"" []	1156866	\N	\N	EFO	3	EFO	genetic disorder	Autosomal recessive multiple pterygium syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:2990	"" []	1156867	\N	\N	EFO	3	EFO	skin disease	Autosomal recessive multiple pterygium syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:2990	"" []	1156868	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Autosomal recessive multiple pterygium syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2990	"" []	1156869	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive multiple pterygium syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2990	"" []	5059943	\N	\N	EFO	7	EFO	disease	Autosomal recessive multiple pterygium syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2990	"" []	2039883	\N	\N	EFO	4	EFO	disease	Autosomal recessive multiple pterygium syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:2990	"" []	2039884	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Autosomal recessive multiple pterygium syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2990	"" []	4397131	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive multiple pterygium syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2990	"" []	5817690	\N	\N	EFO	8	EFO	disposition	Autosomal recessive multiple pterygium syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:2990	"" []	3190218	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive multiple pterygium syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2990	"" []	6410109	\N	\N	EFO	9	EFO	material property	Autosomal recessive multiple pterygium syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2990	"" []	6807948	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive multiple pterygium syndrome
Orphanet:2994	\N	\N	"" []	Orphanet:2994	"" []	76117	\N	\N	EFO	0	EFO	Short stature - craniofacial anomalies - genital hypoplasia	Short stature - craniofacial anomalies - genital hypoplasia
Orphanet:330206	Orphanet:2994	\N	"" []	Orphanet:2994	"" []	218950	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Short stature - craniofacial anomalies - genital hypoplasia
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:2994	"" []	574161	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Short stature - craniofacial anomalies - genital hypoplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2994	"" []	1156870	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Short stature - craniofacial anomalies - genital hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2994	"" []	2039886	\N	\N	EFO	4	EFO	genetic disorder	Short stature - craniofacial anomalies - genital hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2994	"" []	3190220	\N	\N	EFO	5	EFO	disease	Short stature - craniofacial anomalies - genital hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2994	"" []	4397132	\N	\N	EFO	6	EFO	disposition	Short stature - craniofacial anomalies - genital hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2994	"" []	5414737	\N	\N	EFO	7	EFO	material property	Short stature - craniofacial anomalies - genital hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2994	"" []	6150911	\N	\N	EFO	8	EFO	experimental factor	Short stature - craniofacial anomalies - genital hypoplasia
Orphanet:2995	\N	\N	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	76118	\N	\N	EFO	0	EFO	Baraitser-Winter syndrome	Baraitser-Winter syndrome
Orphanet:102010	Orphanet:2995	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	218951	\N	\N	EFO	1	EFO	Other syndrome with lissencephaly as a major feature	Baraitser-Winter syndrome
Orphanet:102283	Orphanet:2995	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	218952	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Baraitser-Winter syndrome
Orphanet:98578	Orphanet:2995	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	218953	\N	\N	EFO	1	EFO	Ptosis	Baraitser-Winter syndrome
Orphanet:48471	Orphanet:102010	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	574162	\N	\N	EFO	2	EFO	Lissencephaly	Baraitser-Winter syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	574163	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Baraitser-Winter syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	574164	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Baraitser-Winter syndrome
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	1156871	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Baraitser-Winter syndrome
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	1156872	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Baraitser-Winter syndrome
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	1156873	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Baraitser-Winter syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	1156874	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Baraitser-Winter syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	1156875	\N	\N	EFO	3	EFO	Rare palpebral disease	Baraitser-Winter syndrome
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	2039887	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Baraitser-Winter syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	2039888	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Baraitser-Winter syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	2039889	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Baraitser-Winter syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	4397134	\N	\N	EFO	6	EFO	genetic disorder	Baraitser-Winter syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	2039891	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Baraitser-Winter syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	3190221	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Baraitser-Winter syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	3190222	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Baraitser-Winter syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	3190223	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Baraitser-Winter syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	3190224	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Baraitser-Winter syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	5059944	\N	\N	EFO	7	EFO	disease	Baraitser-Winter syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	3190226	\N	\N	EFO	5	EFO	Rare genetic eye disease	Baraitser-Winter syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	4397133	\N	\N	EFO	6	EFO	genetic disorder	Baraitser-Winter syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	5877267	\N	\N	EFO	8	EFO	disposition	Baraitser-Winter syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	4397136	\N	\N	EFO	6	EFO	genetic disorder	Baraitser-Winter syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	4397137	\N	\N	EFO	6	EFO	eye disease	Baraitser-Winter syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	6470493	\N	\N	EFO	9	EFO	material property	Baraitser-Winter syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	5414739	\N	\N	EFO	7	EFO	disease	Baraitser-Winter syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2995	"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." []	6848563	\N	\N	EFO	10	EFO	experimental factor	Baraitser-Winter syndrome
Orphanet:2997	\N	\N	"" []	Orphanet:2997	"" []	76119	\N	\N	EFO	0	EFO	Ptosis - vocal cord paralysis	Ptosis - vocal cord paralysis
Orphanet:98578	Orphanet:2997	\N	"" []	Orphanet:2997	"" []	218954	\N	\N	EFO	1	EFO	Ptosis	Ptosis - vocal cord paralysis
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:2997	"" []	574165	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Ptosis - vocal cord paralysis
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:2997	"" []	1156876	\N	\N	EFO	3	EFO	Rare palpebral disease	Ptosis - vocal cord paralysis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2997	"" []	2039892	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Ptosis - vocal cord paralysis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2997	"" []	3190227	\N	\N	EFO	5	EFO	Rare genetic eye disease	Ptosis - vocal cord paralysis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2997	"" []	4397138	\N	\N	EFO	6	EFO	genetic disorder	Ptosis - vocal cord paralysis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2997	"" []	4397139	\N	\N	EFO	6	EFO	eye disease	Ptosis - vocal cord paralysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2997	"" []	5414740	\N	\N	EFO	7	EFO	disease	Ptosis - vocal cord paralysis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2997	"" []	5414741	\N	\N	EFO	7	EFO	disease	Ptosis - vocal cord paralysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2997	"" []	6150913	\N	\N	EFO	8	EFO	disposition	Ptosis - vocal cord paralysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2997	"" []	6633439	\N	\N	EFO	9	EFO	material property	Ptosis - vocal cord paralysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2997	"" []	6926011	\N	\N	EFO	10	EFO	experimental factor	Ptosis - vocal cord paralysis
Orphanet:2999	\N	\N	"" []	Orphanet:2999	"" []	76120	\N	\N	EFO	0	EFO	Ptosis - strabismus - ectopic pupils	Ptosis - strabismus - ectopic pupils
Orphanet:98578	Orphanet:2999	\N	"" []	Orphanet:2999	"" []	218955	\N	\N	EFO	1	EFO	Ptosis	Ptosis - strabismus - ectopic pupils
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:2999	"" []	574166	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Ptosis - strabismus - ectopic pupils
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:2999	"" []	1156877	\N	\N	EFO	3	EFO	Rare palpebral disease	Ptosis - strabismus - ectopic pupils
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:2999	"" []	2039893	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Ptosis - strabismus - ectopic pupils
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:2999	"" []	3190228	\N	\N	EFO	5	EFO	Rare genetic eye disease	Ptosis - strabismus - ectopic pupils
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:2999	"" []	4397140	\N	\N	EFO	6	EFO	genetic disorder	Ptosis - strabismus - ectopic pupils
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:2999	"" []	4397141	\N	\N	EFO	6	EFO	eye disease	Ptosis - strabismus - ectopic pupils
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2999	"" []	5414742	\N	\N	EFO	7	EFO	disease	Ptosis - strabismus - ectopic pupils
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:2999	"" []	5414743	\N	\N	EFO	7	EFO	disease	Ptosis - strabismus - ectopic pupils
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:2999	"" []	6150914	\N	\N	EFO	8	EFO	disposition	Ptosis - strabismus - ectopic pupils
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:2999	"" []	6633440	\N	\N	EFO	9	EFO	material property	Ptosis - strabismus - ectopic pupils
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:2999	"" []	6926012	\N	\N	EFO	10	EFO	experimental factor	Ptosis - strabismus - ectopic pupils
Orphanet:30	\N	\N	"" []	Orphanet:30	"" []	76121	\N	\N	EFO	0	EFO	Hereditary orotic aciduria	Hereditary orotic aciduria
Orphanet:79193	Orphanet:30	\N	"ANPM" []	Orphanet:30	"" []	218956	\N	\N	EFO	1	EFO	Disorder of pyrimidine metabolism	Hereditary orotic aciduria
Orphanet:98415	Orphanet:30	\N	"" []	Orphanet:30	"" []	218957	\N	\N	EFO	1	EFO	Vitamin B12- and folate-independent constitutional megaloblastic anemia	Hereditary orotic aciduria
Orphanet:79224	Orphanet:79193	\N	"" []	Orphanet:30	"" []	574167	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Hereditary orotic aciduria
Orphanet:248296	Orphanet:98415	\N	"" []	Orphanet:30	"" []	574168	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Hereditary orotic aciduria
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:30	"" []	1156878	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hereditary orotic aciduria
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:30	"" []	1156879	\N	\N	EFO	3	EFO	Rare constitutional anemia	Hereditary orotic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:30	"" []	2039894	\N	\N	EFO	4	EFO	genetic disorder	Hereditary orotic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:30	"" []	2039895	\N	\N	EFO	4	EFO	metabolic disease	Hereditary orotic aciduria
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:30	"" []	2039896	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hereditary orotic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:30	"" []	4397143	\N	\N	EFO	6	EFO	disease	Hereditary orotic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:30	"" []	3190230	\N	\N	EFO	5	EFO	disease	Hereditary orotic aciduria
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:30	"" []	3190231	\N	\N	EFO	5	EFO	genetic disorder	Hereditary orotic aciduria
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:30	"" []	3190232	\N	\N	EFO	5	EFO	hematological system disease	Hereditary orotic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:30	"" []	5182514	\N	\N	EFO	7	EFO	disposition	Hereditary orotic aciduria
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:30	"" []	4397144	\N	\N	EFO	6	EFO	disease	Hereditary orotic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:30	"" []	5997881	\N	\N	EFO	8	EFO	material property	Hereditary orotic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:30	"" []	6551217	\N	\N	EFO	9	EFO	experimental factor	Hereditary orotic aciduria
Orphanet:300	\N	\N	"" []	Orphanet:300	"" []	76122	\N	\N	EFO	0	EFO	Bifunctional enzyme deficiency	Bifunctional enzyme deficiency
Orphanet:79188	Orphanet:300	\N	"" []	Orphanet:300	"" []	218958	\N	\N	EFO	1	EFO	Peroxisomal beta-oxidation disorder	Bifunctional enzyme deficiency
Orphanet:309810	Orphanet:79188	\N	"" []	Orphanet:300	"" []	574169	\N	\N	EFO	2	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	Bifunctional enzyme deficiency
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:300	"" []	1156880	\N	\N	EFO	3	EFO	Peroxisomal disease	Bifunctional enzyme deficiency
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:300	"" []	2039897	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Bifunctional enzyme deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300	"" []	3190233	\N	\N	EFO	5	EFO	genetic disorder	Bifunctional enzyme deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:300	"" []	3190234	\N	\N	EFO	5	EFO	metabolic disease	Bifunctional enzyme deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300	"" []	4397145	\N	\N	EFO	6	EFO	disease	Bifunctional enzyme deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300	"" []	4397146	\N	\N	EFO	6	EFO	disease	Bifunctional enzyme deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300	"" []	5414745	\N	\N	EFO	7	EFO	disposition	Bifunctional enzyme deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300	"" []	6150916	\N	\N	EFO	8	EFO	material property	Bifunctional enzyme deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300	"" []	6633441	\N	\N	EFO	9	EFO	experimental factor	Bifunctional enzyme deficiency
Orphanet:300179	\N	\N	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	76123	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Orphanet:98249	Orphanet:300179	\N	"" []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	218959	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	574170	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	574171	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	574172	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	574173	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	1156881	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	1156882	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	1156883	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	1156884	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	2039898	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	2039899	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	4397147	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	3190236	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	3190237	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	5059945	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	4397148	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	5877268	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300179	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." []	6470494	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Orphanet:300284	\N	\N	"" []	Orphanet:300284	"" []	76124	\N	\N	EFO	0	EFO	Connective tissue disorder due to lysyl hydroxylase-3 deficiency	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Orphanet:139030	Orphanet:300284	\N	"" []	Orphanet:300284	"" []	218960	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Orphanet:271870	Orphanet:300284	\N	"" []	Orphanet:300284	"" []	218961	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Orphanet:90642	Orphanet:300284	\N	"" []	Orphanet:300284	"" []	218962	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:300284	"" []	574174	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300284	"" []	574175	\N	\N	EFO	2	EFO	genetic disorder	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:300284	"" []	574176	\N	\N	EFO	2	EFO	Rare genetic deafness	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300284	"" []	1156885	\N	\N	EFO	3	EFO	genetic disorder	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300284	"" []	2039901	\N	\N	EFO	4	EFO	disease	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300284	"" []	1156887	\N	\N	EFO	3	EFO	genetic disorder	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:300284	"" []	1156888	\N	\N	EFO	3	EFO	auditory system disease	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300284	"" []	5414747	\N	\N	EFO	7	EFO	disposition	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:300284	"" []	2039903	\N	\N	EFO	4	EFO	sensory system disease	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300284	"" []	5817691	\N	\N	EFO	8	EFO	material property	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:300284	"" []	3190240	\N	\N	EFO	5	EFO	nervous system disease	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300284	"" []	6410110	\N	\N	EFO	9	EFO	experimental factor	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300284	"" []	4397151	\N	\N	EFO	6	EFO	disease	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Orphanet:300293	\N	\N	"" []	Orphanet:300293	"" []	76125	\N	\N	EFO	0	EFO	Transient infantile hypertriglyceridemia and hepatosteatosis	Transient infantile hypertriglyceridemia and hepatosteatosis
Orphanet:156604	Orphanet:300293	\N	"" []	Orphanet:300293	"" []	218963	\N	\N	EFO	1	EFO	Genetic parenchymatous liver disease	Transient infantile hypertriglyceridemia and hepatosteatosis
Orphanet:156601	Orphanet:156604	\N	"" []	Orphanet:300293	"" []	574177	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Transient infantile hypertriglyceridemia and hepatosteatosis
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:300293	"" []	1156889	\N	\N	EFO	3	EFO	digestive system disease	Transient infantile hypertriglyceridemia and hepatosteatosis
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300293	"" []	1156890	\N	\N	EFO	3	EFO	genetic disorder	Transient infantile hypertriglyceridemia and hepatosteatosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300293	"" []	2039904	\N	\N	EFO	4	EFO	disease	Transient infantile hypertriglyceridemia and hepatosteatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300293	"" []	2039905	\N	\N	EFO	4	EFO	disease	Transient infantile hypertriglyceridemia and hepatosteatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300293	"" []	3190241	\N	\N	EFO	5	EFO	disposition	Transient infantile hypertriglyceridemia and hepatosteatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300293	"" []	4397152	\N	\N	EFO	6	EFO	material property	Transient infantile hypertriglyceridemia and hepatosteatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300293	"" []	5414748	\N	\N	EFO	7	EFO	experimental factor	Transient infantile hypertriglyceridemia and hepatosteatosis
Orphanet:300298	\N	\N	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	76126	\N	\N	EFO	0	EFO	Severe congenital hypochromic anemia with ringed sideroblasts	Severe congenital hypochromic anemia with ringed sideroblasts
Orphanet:98360	Orphanet:300298	\N	"" []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	218964	\N	\N	EFO	1	EFO	Constitutional anemia due to iron metabolism disorder	Severe congenital hypochromic anemia with ringed sideroblasts
Orphanet:98362	Orphanet:300298	\N	"" []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	218965	\N	\N	EFO	1	EFO	Constitutional sideroblastic anemia	Severe congenital hypochromic anemia with ringed sideroblasts
Orphanet:248296	Orphanet:98360	\N	"" []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	574178	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Severe congenital hypochromic anemia with ringed sideroblasts
Orphanet:183651	Orphanet:98362	\N	"" []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	574179	\N	\N	EFO	2	EFO	Rare constitutional anemia	Severe congenital hypochromic anemia with ringed sideroblasts
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	1156891	\N	\N	EFO	3	EFO	Rare constitutional anemia	Severe congenital hypochromic anemia with ringed sideroblasts
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	2039906	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Severe congenital hypochromic anemia with ringed sideroblasts
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	3000291	\N	\N	EFO	5	EFO	genetic disorder	Severe congenital hypochromic anemia with ringed sideroblasts
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	3000292	\N	\N	EFO	5	EFO	hematological system disease	Severe congenital hypochromic anemia with ringed sideroblasts
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	4133816	\N	\N	EFO	6	EFO	disease	Severe congenital hypochromic anemia with ringed sideroblasts
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	4133817	\N	\N	EFO	6	EFO	disease	Severe congenital hypochromic anemia with ringed sideroblasts
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	5182517	\N	\N	EFO	7	EFO	disposition	Severe congenital hypochromic anemia with ringed sideroblasts
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	5997883	\N	\N	EFO	8	EFO	material property	Severe congenital hypochromic anemia with ringed sideroblasts
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300298	"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." []	6551218	\N	\N	EFO	9	EFO	experimental factor	Severe congenital hypochromic anemia with ringed sideroblasts
Orphanet:3003	\N	\N	"" []	Orphanet:3003	"" []	76127	\N	\N	EFO	0	EFO	Pyknoachondrogenesis	Pyknoachondrogenesis
Orphanet:93465	Orphanet:3003	\N	"" []	Orphanet:3003	"" []	218966	\N	\N	EFO	1	EFO	Lethal chondrodysplasia	Pyknoachondrogenesis
Orphanet:364526	Orphanet:93465	\N	"" []	Orphanet:3003	"" []	574180	\N	\N	EFO	2	EFO	Primary bone dysplasia	Pyknoachondrogenesis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3003	"" []	1156893	\N	\N	EFO	3	EFO	Rare genetic bone disease	Pyknoachondrogenesis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3003	"" []	1156894	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Pyknoachondrogenesis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3003	"" []	2039909	\N	\N	EFO	4	EFO	genetic disorder	Pyknoachondrogenesis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3003	"" []	2039910	\N	\N	EFO	4	EFO	bone disease	Pyknoachondrogenesis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3003	"" []	2039911	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pyknoachondrogenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3003	"" []	4397156	\N	\N	EFO	6	EFO	disease	Pyknoachondrogenesis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3003	"" []	3190245	\N	\N	EFO	5	EFO	skeletal system disease	Pyknoachondrogenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3003	"" []	3190246	\N	\N	EFO	5	EFO	genetic disorder	Pyknoachondrogenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3003	"" []	5182518	\N	\N	EFO	7	EFO	disposition	Pyknoachondrogenesis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3003	"" []	4397155	\N	\N	EFO	6	EFO	disease	Pyknoachondrogenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3003	"" []	5997884	\N	\N	EFO	8	EFO	material property	Pyknoachondrogenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3003	"" []	6551219	\N	\N	EFO	9	EFO	experimental factor	Pyknoachondrogenesis
Orphanet:300305	\N	\N	"" []	Orphanet:300305	"" []	76128	\N	\N	EFO	0	EFO	11p15.4 microduplication syndrome	11p15.4 microduplication syndrome
Orphanet:102283	Orphanet:300305	\N	"" []	Orphanet:300305	"" []	218967	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	11p15.4 microduplication syndrome
Orphanet:262785	Orphanet:300305	\N	"" []	Orphanet:300305	"" []	218968	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 11	11p15.4 microduplication syndrome
Orphanet:93460	Orphanet:300305	\N	"" []	Orphanet:300305	"" []	218969	\N	\N	EFO	1	EFO	Overgrowth syndrome	11p15.4 microduplication syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:300305	"" []	574181	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	11p15.4 microduplication syndrome
Orphanet:262653	Orphanet:262785	\N	"" []	Orphanet:300305	"" []	574182	\N	\N	EFO	2	EFO	Partial duplication of chromosome 11	11p15.4 microduplication syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:300305	"" []	574183	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	11p15.4 microduplication syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:300305	"" []	1156895	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	11p15.4 microduplication syndrome
Orphanet:98132	Orphanet:262653	\N	"" []	Orphanet:300305	"" []	1156896	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	11p15.4 microduplication syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:300305	"" []	1156897	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	11p15.4 microduplication syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300305	"" []	2039912	\N	\N	EFO	4	EFO	genetic disorder	11p15.4 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:300305	"" []	2039913	\N	\N	EFO	4	EFO	Autosomal trisomy	11p15.4 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300305	"" []	6150920	\N	\N	EFO	8	EFO	disease	11p15.4 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:300305	"" []	3190248	\N	\N	EFO	5	EFO	Autosomal anomaly	11p15.4 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300305	"" []	6410111	\N	\N	EFO	9	EFO	disposition	11p15.4 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:300305	"" []	4397158	\N	\N	EFO	6	EFO	Chromosomal anomaly	11p15.4 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300305	"" []	6807949	\N	\N	EFO	10	EFO	material property	11p15.4 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300305	"" []	5414752	\N	\N	EFO	7	EFO	genetic disorder	11p15.4 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300305	"" []	7048684	\N	\N	EFO	11	EFO	experimental factor	11p15.4 microduplication syndrome
Orphanet:300313	\N	\N	"" []	Orphanet:300313	"" []	76129	\N	\N	EFO	0	EFO	Congenital cataract-hearing loss-severe developmental delay syndrome	Congenital cataract-hearing loss-severe developmental delay syndrome
Orphanet:68385	Orphanet:300313	\N	"" []	Orphanet:300313	"" []	218970	\N	\N	EFO	1	EFO	Neurometabolic disease	Congenital cataract-hearing loss-severe developmental delay syndrome
Orphanet:98641	Orphanet:300313	\N	"" []	Orphanet:300313	"" []	218971	\N	\N	EFO	1	EFO	Syndromic cataract	Congenital cataract-hearing loss-severe developmental delay syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:300313	"" []	574184	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Congenital cataract-hearing loss-severe developmental delay syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:300313	"" []	574185	\N	\N	EFO	2	EFO	Rare cataract	Congenital cataract-hearing loss-severe developmental delay syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300313	"" []	1156898	\N	\N	EFO	3	EFO	genetic disorder	Congenital cataract-hearing loss-severe developmental delay syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:300313	"" []	1156899	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Congenital cataract-hearing loss-severe developmental delay syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300313	"" []	4397160	\N	\N	EFO	6	EFO	disease	Congenital cataract-hearing loss-severe developmental delay syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:300313	"" []	2039915	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital cataract-hearing loss-severe developmental delay syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300313	"" []	5059946	\N	\N	EFO	7	EFO	disposition	Congenital cataract-hearing loss-severe developmental delay syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300313	"" []	3190250	\N	\N	EFO	5	EFO	genetic disorder	Congenital cataract-hearing loss-severe developmental delay syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:300313	"" []	3190251	\N	\N	EFO	5	EFO	eye disease	Congenital cataract-hearing loss-severe developmental delay syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300313	"" []	5877269	\N	\N	EFO	8	EFO	material property	Congenital cataract-hearing loss-severe developmental delay syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300313	"" []	4397161	\N	\N	EFO	6	EFO	disease	Congenital cataract-hearing loss-severe developmental delay syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300313	"" []	6470495	\N	\N	EFO	9	EFO	experimental factor	Congenital cataract-hearing loss-severe developmental delay syndrome
Orphanet:300319	\N	\N	"" []	Orphanet:300319	"" []	76130	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2P	Autosomal dominant Charcot-Marie-Tooth disease type 2P
Orphanet:64746	Orphanet:300319	\N	"" []	Orphanet:300319	"" []	218972	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2P
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:300319	"" []	574186	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2P
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:300319	"" []	574187	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2P
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:300319	"" []	1156900	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2P
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:300319	"" []	1156901	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2P
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:300319	"" []	2039916	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2P
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:300319	"" []	2039917	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2P
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:300319	"" []	3190253	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2P
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:300319	"" []	3190252	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2P
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300319	"" []	4133818	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2P
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:300319	"" []	4397162	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2P
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300319	"" []	5182519	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2P
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300319	"" []	5414754	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2P
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300319	"" []	5997885	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2P
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300319	"" []	6551220	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2P
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300319	"" []	6889355	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2P
Orphanet:300333	\N	\N	"" []	Orphanet:300333	"" []	76131	\N	\N	EFO	0	EFO	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Orphanet:90642	Orphanet:300333	\N	"" []	Orphanet:300333	"" []	218973	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Orphanet:93550	Orphanet:300333	\N	"" []	Orphanet:300333	"" []	218974	\N	\N	EFO	1	EFO	Basement membrane disease	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:300333	"" []	574188	\N	\N	EFO	2	EFO	Rare genetic deafness	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Orphanet:183586	Orphanet:93550	\N	"" []	Orphanet:300333	"" []	574189	\N	\N	EFO	2	EFO	Genetic glomerular disease	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300333	"" []	1156902	\N	\N	EFO	3	EFO	genetic disorder	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:300333	"" []	1156903	\N	\N	EFO	3	EFO	auditory system disease	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:300333	"" []	1156904	\N	\N	EFO	3	EFO	Rare genetic renal disease	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300333	"" []	3190257	\N	\N	EFO	5	EFO	disease	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:300333	"" []	2039920	\N	\N	EFO	4	EFO	sensory system disease	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300333	"" []	2039921	\N	\N	EFO	4	EFO	genetic disorder	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300333	"" []	5414757	\N	\N	EFO	7	EFO	disposition	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:300333	"" []	3190256	\N	\N	EFO	5	EFO	nervous system disease	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300333	"" []	5877270	\N	\N	EFO	8	EFO	material property	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300333	"" []	4397165	\N	\N	EFO	6	EFO	disease	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300333	"" []	6470496	\N	\N	EFO	9	EFO	experimental factor	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Orphanet:300337	\N	\N	"" []	Orphanet:300337	"" []	76132	\N	\N	EFO	0	EFO	Congenital blindness due to retinal non-attachment	Congenital blindness due to retinal non-attachment
Orphanet:98657	Orphanet:300337	\N	"" []	Orphanet:300337	"" []	218975	\N	\N	EFO	1	EFO	Genetic vitreous-retinal disease	Congenital blindness due to retinal non-attachment
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:300337	"" []	574190	\N	\N	EFO	2	EFO	Rare genetic eye disease	Congenital blindness due to retinal non-attachment
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300337	"" []	1156905	\N	\N	EFO	3	EFO	genetic disorder	Congenital blindness due to retinal non-attachment
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:300337	"" []	1156906	\N	\N	EFO	3	EFO	eye disease	Congenital blindness due to retinal non-attachment
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300337	"" []	2039922	\N	\N	EFO	4	EFO	disease	Congenital blindness due to retinal non-attachment
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300337	"" []	2039923	\N	\N	EFO	4	EFO	disease	Congenital blindness due to retinal non-attachment
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300337	"" []	3190258	\N	\N	EFO	5	EFO	disposition	Congenital blindness due to retinal non-attachment
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300337	"" []	4397166	\N	\N	EFO	6	EFO	material property	Congenital blindness due to retinal non-attachment
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300337	"" []	5414758	\N	\N	EFO	7	EFO	experimental factor	Congenital blindness due to retinal non-attachment
Orphanet:300345	\N	\N	"" []	Orphanet:300345	"" []	76133	\N	\N	EFO	0	EFO	Autosomal recessive systemic lupus erythematosus	Autosomal recessive systemic lupus erythematosus
Orphanet:271870	Orphanet:300345	\N	"" []	Orphanet:300345	"" []	218976	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	Autosomal recessive systemic lupus erythematosus
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300345	"" []	574191	\N	\N	EFO	2	EFO	genetic disorder	Autosomal recessive systemic lupus erythematosus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300345	"" []	1156907	\N	\N	EFO	3	EFO	disease	Autosomal recessive systemic lupus erythematosus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300345	"" []	2039924	\N	\N	EFO	4	EFO	disposition	Autosomal recessive systemic lupus erythematosus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300345	"" []	3190259	\N	\N	EFO	5	EFO	material property	Autosomal recessive systemic lupus erythematosus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300345	"" []	4397167	\N	\N	EFO	6	EFO	experimental factor	Autosomal recessive systemic lupus erythematosus
Orphanet:300359	\N	\N	"" []	Orphanet:300359	"" []	76134	\N	\N	EFO	0	EFO	PLCG2-associated antibody deficiency and immune dysregulation	PLCG2-associated antibody deficiency and immune dysregulation
EFO:1001881	Orphanet:300359	\N	"Cold urticaria (essentially meaning \\"cold hives\\") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. [Wikipedia:Cold_urticaria]" []	Orphanet:300359	"" []	218977	\N	\N	EFO	1	EFO	cold urticaria	PLCG2-associated antibody deficiency and immune dysregulation
Orphanet:169361	Orphanet:300359	\N	"" []	Orphanet:300359	"" []	218978	\N	\N	EFO	1	EFO	Immune dysregulation disease with immunodeficiency	PLCG2-associated antibody deficiency and immune dysregulation
EFO:0005531	EFO:1001881	\N	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	Orphanet:300359	"" []	574192	\N	\N	EFO	2	EFO	urticaria	PLCG2-associated antibody deficiency and immune dysregulation
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:300359	"" []	574193	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	PLCG2-associated antibody deficiency and immune dysregulation
EFO:0000701	EFO:0005531	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:300359	"" []	1156908	\N	\N	EFO	3	EFO	skin disease	PLCG2-associated antibody deficiency and immune dysregulation
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:300359	"" []	1156909	\N	\N	EFO	3	EFO	Primary immunodeficiency	PLCG2-associated antibody deficiency and immune dysregulation
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300359	"" []	2039925	\N	\N	EFO	4	EFO	disease	PLCG2-associated antibody deficiency and immune dysregulation
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:300359	"" []	2039926	\N	\N	EFO	4	EFO	Rare genetic immune disease	PLCG2-associated antibody deficiency and immune dysregulation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300359	"" []	5414760	\N	\N	EFO	7	EFO	disposition	PLCG2-associated antibody deficiency and immune dysregulation
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300359	"" []	3190261	\N	\N	EFO	5	EFO	genetic disorder	PLCG2-associated antibody deficiency and immune dysregulation
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:300359	"" []	3190262	\N	\N	EFO	5	EFO	immune system disease	PLCG2-associated antibody deficiency and immune dysregulation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300359	"" []	5877271	\N	\N	EFO	8	EFO	material property	PLCG2-associated antibody deficiency and immune dysregulation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300359	"" []	4397169	\N	\N	EFO	6	EFO	disease	PLCG2-associated antibody deficiency and immune dysregulation
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300359	"" []	4397170	\N	\N	EFO	6	EFO	disease	PLCG2-associated antibody deficiency and immune dysregulation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300359	"" []	6470497	\N	\N	EFO	9	EFO	experimental factor	PLCG2-associated antibody deficiency and immune dysregulation
Orphanet:300373	\N	\N	"" []	Orphanet:300373	"" []	76135	\N	\N	EFO	0	EFO	Familial infantile gigantism	Familial infantile gigantism
Orphanet:183628	Orphanet:300373	\N	"" []	Orphanet:300373	"" []	218979	\N	\N	EFO	1	EFO	Rare genetic hypothalamic or pituitary disease	Familial infantile gigantism
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:300373	"" []	574194	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Familial infantile gigantism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300373	"" []	1156910	\N	\N	EFO	3	EFO	genetic disorder	Familial infantile gigantism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:300373	"" []	1156911	\N	\N	EFO	3	EFO	endocrine system disease	Familial infantile gigantism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300373	"" []	2039927	\N	\N	EFO	4	EFO	disease	Familial infantile gigantism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300373	"" []	2039928	\N	\N	EFO	4	EFO	disease	Familial infantile gigantism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300373	"" []	3190263	\N	\N	EFO	5	EFO	disposition	Familial infantile gigantism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300373	"" []	4397171	\N	\N	EFO	6	EFO	material property	Familial infantile gigantism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300373	"" []	5414761	\N	\N	EFO	7	EFO	experimental factor	Familial infantile gigantism
Orphanet:300382	\N	\N	"" []	Orphanet:300382	"" []	76136	\N	\N	EFO	0	EFO	Progeroid and marfanoid aspect-lipodystrophy syndrome	Progeroid and marfanoid aspect-lipodystrophy syndrome
Orphanet:271870	Orphanet:300382	\N	"" []	Orphanet:300382	"" []	218980	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	Progeroid and marfanoid aspect-lipodystrophy syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300382	"" []	574195	\N	\N	EFO	2	EFO	genetic disorder	Progeroid and marfanoid aspect-lipodystrophy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300382	"" []	1156912	\N	\N	EFO	3	EFO	disease	Progeroid and marfanoid aspect-lipodystrophy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300382	"" []	2039929	\N	\N	EFO	4	EFO	disposition	Progeroid and marfanoid aspect-lipodystrophy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300382	"" []	3190264	\N	\N	EFO	5	EFO	material property	Progeroid and marfanoid aspect-lipodystrophy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300382	"" []	4397172	\N	\N	EFO	6	EFO	experimental factor	Progeroid and marfanoid aspect-lipodystrophy syndrome
Orphanet:3004	\N	\N	"" []	Orphanet:3004	"" []	76137	\N	\N	EFO	0	EFO	Mirror polydactyly - vertebral segmentation - limbs defects	Mirror polydactyly - vertebral segmentation - limbs defects
Orphanet:294959	Orphanet:3004	\N	"" []	Orphanet:3004	"" []	218981	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Mirror polydactyly - vertebral segmentation - limbs defects
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:3004	"" []	574196	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Mirror polydactyly - vertebral segmentation - limbs defects
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:3004	"" []	574197	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Mirror polydactyly - vertebral segmentation - limbs defects
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3004	"" []	1156913	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Mirror polydactyly - vertebral segmentation - limbs defects
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3004	"" []	1156914	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Mirror polydactyly - vertebral segmentation - limbs defects
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3004	"" []	2039930	\N	\N	EFO	4	EFO	Rare genetic bone disease	Mirror polydactyly - vertebral segmentation - limbs defects
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3004	"" []	2039931	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Mirror polydactyly - vertebral segmentation - limbs defects
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3004	"" []	2039932	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mirror polydactyly - vertebral segmentation - limbs defects
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3004	"" []	3190265	\N	\N	EFO	5	EFO	genetic disorder	Mirror polydactyly - vertebral segmentation - limbs defects
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3004	"" []	3190266	\N	\N	EFO	5	EFO	bone disease	Mirror polydactyly - vertebral segmentation - limbs defects
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3004	"" []	3190267	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mirror polydactyly - vertebral segmentation - limbs defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3004	"" []	4397175	\N	\N	EFO	6	EFO	genetic disorder	Mirror polydactyly - vertebral segmentation - limbs defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3004	"" []	5182521	\N	\N	EFO	7	EFO	disease	Mirror polydactyly - vertebral segmentation - limbs defects
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3004	"" []	4397174	\N	\N	EFO	6	EFO	skeletal system disease	Mirror polydactyly - vertebral segmentation - limbs defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3004	"" []	5997887	\N	\N	EFO	8	EFO	disposition	Mirror polydactyly - vertebral segmentation - limbs defects
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3004	"" []	5414763	\N	\N	EFO	7	EFO	disease	Mirror polydactyly - vertebral segmentation - limbs defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3004	"" []	6551221	\N	\N	EFO	9	EFO	material property	Mirror polydactyly - vertebral segmentation - limbs defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3004	"" []	6889356	\N	\N	EFO	10	EFO	experimental factor	Mirror polydactyly - vertebral segmentation - limbs defects
Orphanet:300496	\N	\N	"" []	Orphanet:300496	"" []	76138	\N	\N	EFO	0	EFO	Multiple congenital anomalies-hypotonia-seizures syndrome type 2	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:102283	Orphanet:300496	\N	"" []	Orphanet:300496	"" []	218982	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:309515	Orphanet:300496	\N	"" []	Orphanet:300496	"" []	218983	\N	\N	EFO	1	EFO	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:371071	Orphanet:300496	\N	"" []	Orphanet:300496	"" []	218984	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:371235	Orphanet:300496	\N	"" []	Orphanet:300496	"" []	218985	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with developmental anomaly	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:300496	"" []	574198	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:137	Orphanet:309515	\N	"" []	Orphanet:300496	"" []	574199	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:300496	"" []	574200	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:300496	"" []	574201	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:300496	"" []	1156915	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:300496	"" []	1156916	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:300496	"" []	1156917	\N	\N	EFO	3	EFO	Neurometabolic disease	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:300496	"" []	1156918	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300496	"" []	2039933	\N	\N	EFO	4	EFO	genetic disorder	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300496	"" []	2039934	\N	\N	EFO	4	EFO	genetic disorder	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:300496	"" []	2039935	\N	\N	EFO	4	EFO	metabolic disease	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:300496	"" []	2039936	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300496	"" []	4397177	\N	\N	EFO	6	EFO	disease	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300496	"" []	3190270	\N	\N	EFO	5	EFO	disease	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300496	"" []	3190271	\N	\N	EFO	5	EFO	genetic disorder	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300496	"" []	5182522	\N	\N	EFO	7	EFO	disposition	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300496	"" []	5997888	\N	\N	EFO	8	EFO	material property	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300496	"" []	6551222	\N	\N	EFO	9	EFO	experimental factor	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Orphanet:3005	\N	\N	"" []	Orphanet:3005	"" []	76139	\N	\N	EFO	0	EFO	Pyle disease	Pyle disease
Orphanet:93444	Orphanet:3005	\N	"" []	Orphanet:3005	"" []	218986	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Pyle disease
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:3005	"" []	574202	\N	\N	EFO	2	EFO	Primary bone dysplasia	Pyle disease
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3005	"" []	1156919	\N	\N	EFO	3	EFO	Rare genetic bone disease	Pyle disease
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3005	"" []	1156920	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Pyle disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3005	"" []	2039937	\N	\N	EFO	4	EFO	genetic disorder	Pyle disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3005	"" []	2039938	\N	\N	EFO	4	EFO	bone disease	Pyle disease
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3005	"" []	2039939	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pyle disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3005	"" []	4397180	\N	\N	EFO	6	EFO	disease	Pyle disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3005	"" []	3190273	\N	\N	EFO	5	EFO	skeletal system disease	Pyle disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3005	"" []	3190274	\N	\N	EFO	5	EFO	genetic disorder	Pyle disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3005	"" []	5182523	\N	\N	EFO	7	EFO	disposition	Pyle disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3005	"" []	4397179	\N	\N	EFO	6	EFO	disease	Pyle disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3005	"" []	5997889	\N	\N	EFO	8	EFO	material property	Pyle disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3005	"" []	6551223	\N	\N	EFO	9	EFO	experimental factor	Pyle disease
Orphanet:300525	\N	\N	"" []	Orphanet:300525	"" []	76140	\N	\N	EFO	0	EFO	Pseudohypoaldosteronism type 2D	Pseudohypoaldosteronism type 2D
Orphanet:757	Orphanet:300525	\N	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	Orphanet:300525	"" []	218987	\N	\N	EFO	1	EFO	Pseudohypoaldosteronism type 2	Pseudohypoaldosteronism type 2D
Orphanet:156629	Orphanet:757	\N	"" []	Orphanet:300525	"" []	574203	\N	\N	EFO	2	EFO	Genetic hypertension	Pseudohypoaldosteronism type 2D
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:300525	"" []	1156921	\N	\N	EFO	3	EFO	Rare genetic renal disease	Pseudohypoaldosteronism type 2D
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300525	"" []	2039940	\N	\N	EFO	4	EFO	genetic disorder	Pseudohypoaldosteronism type 2D
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300525	"" []	3190275	\N	\N	EFO	5	EFO	disease	Pseudohypoaldosteronism type 2D
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300525	"" []	4397181	\N	\N	EFO	6	EFO	disposition	Pseudohypoaldosteronism type 2D
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300525	"" []	5414766	\N	\N	EFO	7	EFO	material property	Pseudohypoaldosteronism type 2D
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300525	"" []	6150925	\N	\N	EFO	8	EFO	experimental factor	Pseudohypoaldosteronism type 2D
Orphanet:300530	\N	\N	"" []	Orphanet:300530	"" []	76141	\N	\N	EFO	0	EFO	Pseudohypoaldosteronism type 2E	Pseudohypoaldosteronism type 2E
Orphanet:757	Orphanet:300530	\N	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	Orphanet:300530	"" []	218988	\N	\N	EFO	1	EFO	Pseudohypoaldosteronism type 2	Pseudohypoaldosteronism type 2E
Orphanet:156629	Orphanet:757	\N	"" []	Orphanet:300530	"" []	574204	\N	\N	EFO	2	EFO	Genetic hypertension	Pseudohypoaldosteronism type 2E
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:300530	"" []	1156922	\N	\N	EFO	3	EFO	Rare genetic renal disease	Pseudohypoaldosteronism type 2E
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300530	"" []	2039941	\N	\N	EFO	4	EFO	genetic disorder	Pseudohypoaldosteronism type 2E
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300530	"" []	3190276	\N	\N	EFO	5	EFO	disease	Pseudohypoaldosteronism type 2E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300530	"" []	4397182	\N	\N	EFO	6	EFO	disposition	Pseudohypoaldosteronism type 2E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300530	"" []	5414767	\N	\N	EFO	7	EFO	material property	Pseudohypoaldosteronism type 2E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300530	"" []	6150926	\N	\N	EFO	8	EFO	experimental factor	Pseudohypoaldosteronism type 2E
Orphanet:300536	\N	\N	"" []	Orphanet:300536	"" []	76142	\N	\N	EFO	0	EFO	DDOST-CDG	DDOST-CDG
Orphanet:309347	Orphanet:300536	\N	"" []	Orphanet:300536	"" []	218989	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	DDOST-CDG
Orphanet:371047	Orphanet:300536	\N	"" []	Orphanet:300536	"" []	218990	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	DDOST-CDG
Orphanet:371157	Orphanet:300536	\N	"" []	Orphanet:300536	"" []	218991	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	DDOST-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:300536	"" []	574205	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	DDOST-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:300536	"" []	574206	\N	\N	EFO	2	EFO	Neurometabolic disease	DDOST-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:300536	"" []	574207	\N	\N	EFO	2	EFO	Rare metabolic liver disease	DDOST-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:300536	"" []	1156923	\N	\N	EFO	3	EFO	Inborn errors of metabolism	DDOST-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:300536	"" []	1156924	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	DDOST-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:300536	"" []	1156925	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	DDOST-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300536	"" []	2039942	\N	\N	EFO	4	EFO	genetic disorder	DDOST-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:300536	"" []	2039943	\N	\N	EFO	4	EFO	metabolic disease	DDOST-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300536	"" []	2039944	\N	\N	EFO	4	EFO	genetic disorder	DDOST-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:300536	"" []	2039945	\N	\N	EFO	4	EFO	digestive system disease	DDOST-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300536	"" []	2039946	\N	\N	EFO	4	EFO	genetic disorder	DDOST-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300536	"" []	3190277	\N	\N	EFO	5	EFO	disease	DDOST-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300536	"" []	3190278	\N	\N	EFO	5	EFO	disease	DDOST-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300536	"" []	3190279	\N	\N	EFO	5	EFO	disease	DDOST-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300536	"" []	4397183	\N	\N	EFO	6	EFO	disposition	DDOST-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300536	"" []	5414768	\N	\N	EFO	7	EFO	material property	DDOST-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300536	"" []	6150927	\N	\N	EFO	8	EFO	experimental factor	DDOST-CDG
Orphanet:300547	\N	\N	"" []	Orphanet:300547	"" []	76143	\N	\N	EFO	0	EFO	Autosomal recessive infantile hypercalcemia	Autosomal recessive infantile hypercalcemia
EFO:0005769	Orphanet:300547	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:300547	"" []	218992	\N	\N	EFO	1	EFO	calcium metabolic disease	Autosomal recessive infantile hypercalcemia
Orphanet:183634	Orphanet:300547	\N	"" []	Orphanet:300547	"" []	218993	\N	\N	EFO	1	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Autosomal recessive infantile hypercalcemia
Orphanet:93593	Orphanet:300547	\N	"" []	Orphanet:300547	"" []	218994	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Autosomal recessive infantile hypercalcemia
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:300547	"" []	574208	\N	\N	EFO	2	EFO	metabolic disease	Autosomal recessive infantile hypercalcemia
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:300547	"" []	574209	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Autosomal recessive infantile hypercalcemia
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:300547	"" []	574210	\N	\N	EFO	2	EFO	Rare genetic renal disease	Autosomal recessive infantile hypercalcemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300547	"" []	1156926	\N	\N	EFO	3	EFO	disease	Autosomal recessive infantile hypercalcemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300547	"" []	1156927	\N	\N	EFO	3	EFO	genetic disorder	Autosomal recessive infantile hypercalcemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:300547	"" []	1156928	\N	\N	EFO	3	EFO	endocrine system disease	Autosomal recessive infantile hypercalcemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300547	"" []	1156929	\N	\N	EFO	3	EFO	genetic disorder	Autosomal recessive infantile hypercalcemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300547	"" []	3190281	\N	\N	EFO	5	EFO	disposition	Autosomal recessive infantile hypercalcemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300547	"" []	2039948	\N	\N	EFO	4	EFO	disease	Autosomal recessive infantile hypercalcemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300547	"" []	2039949	\N	\N	EFO	4	EFO	disease	Autosomal recessive infantile hypercalcemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300547	"" []	4133820	\N	\N	EFO	6	EFO	material property	Autosomal recessive infantile hypercalcemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300547	"" []	5182524	\N	\N	EFO	7	EFO	experimental factor	Autosomal recessive infantile hypercalcemia
Orphanet:300570	\N	\N	"" []	Orphanet:300570	"" []	76144	\N	\N	EFO	0	EFO	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Orphanet:163209	Orphanet:300570	\N	"" []	Orphanet:300570	"" []	218995	\N	\N	EFO	1	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:300570	"" []	574211	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:300570	"" []	574212	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:300570	"" []	1156930	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:300570	"" []	1156931	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:300570	"" []	2039950	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:300570	"" []	2039951	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300570	"" []	4397187	\N	\N	EFO	6	EFO	genetic disorder	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:300570	"" []	3190283	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:300570	"" []	3190284	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300570	"" []	5182525	\N	\N	EFO	7	EFO	disease	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300570	"" []	4397186	\N	\N	EFO	6	EFO	genetic disorder	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300570	"" []	5997890	\N	\N	EFO	8	EFO	disposition	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300570	"" []	6551224	\N	\N	EFO	9	EFO	material property	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300570	"" []	6889357	\N	\N	EFO	10	EFO	experimental factor	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Orphanet:300573	\N	\N	"" []	Orphanet:300573	"" []	76145	\N	\N	EFO	0	EFO	Polymicrogyria due to TUBB2B mutation	Polymicrogyria due to TUBB2B mutation
Orphanet:208444	Orphanet:300573	\N	"" []	Orphanet:300573	"" []	218996	\N	\N	EFO	1	EFO	Bilateral frontal polymicrogyria	Polymicrogyria due to TUBB2B mutation
Orphanet:268940	Orphanet:208444	\N	"" []	Orphanet:300573	"" []	574213	\N	\N	EFO	2	EFO	Bilateral polymicrogyria	Polymicrogyria due to TUBB2B mutation
Orphanet:35981	Orphanet:268940	\N	"" []	Orphanet:300573	"" []	1156932	\N	\N	EFO	3	EFO	Polymicrogyria	Polymicrogyria due to TUBB2B mutation
Orphanet:163209	Orphanet:35981	\N	"" []	Orphanet:300573	"" []	2039952	\N	\N	EFO	4	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Polymicrogyria due to TUBB2B mutation
Orphanet:183763	Orphanet:35981	\N	"" []	Orphanet:300573	"" []	2039953	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Polymicrogyria due to TUBB2B mutation
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:300573	"" []	3190285	\N	\N	EFO	5	EFO	Cerebral malformation with epilepsy	Polymicrogyria due to TUBB2B mutation
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:300573	"" []	3190286	\N	\N	EFO	5	EFO	Genetic cerebral malformation	Polymicrogyria due to TUBB2B mutation
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:300573	"" []	3190287	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Polymicrogyria due to TUBB2B mutation
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:300573	"" []	4397188	\N	\N	EFO	6	EFO	Rare genetic epilepsy	Polymicrogyria due to TUBB2B mutation
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:300573	"" []	4397189	\N	\N	EFO	6	EFO	Genetic non-syndromic central nervous system malformation	Polymicrogyria due to TUBB2B mutation
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:300573	"" []	4397190	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Polymicrogyria due to TUBB2B mutation
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:300573	"" []	5414770	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Polymicrogyria due to TUBB2B mutation
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:300573	"" []	5414771	\N	\N	EFO	7	EFO	Genetic central nervous system malformation	Polymicrogyria due to TUBB2B mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300573	"" []	6633446	\N	\N	EFO	9	EFO	genetic disorder	Polymicrogyria due to TUBB2B mutation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:300573	"" []	6150930	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Polymicrogyria due to TUBB2B mutation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:300573	"" []	6150931	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Polymicrogyria due to TUBB2B mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300573	"" []	6848564	\N	\N	EFO	10	EFO	disease	Polymicrogyria due to TUBB2B mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300573	"" []	6633445	\N	\N	EFO	9	EFO	genetic disorder	Polymicrogyria due to TUBB2B mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300573	"" []	7068469	\N	\N	EFO	11	EFO	disposition	Polymicrogyria due to TUBB2B mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300573	"" []	7197165	\N	\N	EFO	12	EFO	material property	Polymicrogyria due to TUBB2B mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300573	"" []	7284163	\N	\N	EFO	13	EFO	experimental factor	Polymicrogyria due to TUBB2B mutation
Orphanet:300576	\N	\N	"" []	Orphanet:300576	"" []	76146	\N	\N	EFO	0	EFO	Oligodontia - cancer predisposition syndrome	Oligodontia - cancer predisposition syndrome
Orphanet:183422	Orphanet:300576	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:300576	"" []	218997	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Oligodontia - cancer predisposition syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:300576	"" []	574214	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Oligodontia - cancer predisposition syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300576	"" []	1156933	\N	\N	EFO	3	EFO	genetic disorder	Oligodontia - cancer predisposition syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300576	"" []	2039954	\N	\N	EFO	4	EFO	disease	Oligodontia - cancer predisposition syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300576	"" []	3190288	\N	\N	EFO	5	EFO	disposition	Oligodontia - cancer predisposition syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300576	"" []	4397191	\N	\N	EFO	6	EFO	material property	Oligodontia - cancer predisposition syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300576	"" []	5414773	\N	\N	EFO	7	EFO	experimental factor	Oligodontia - cancer predisposition syndrome
Orphanet:3006	\N	\N	"" []	Orphanet:3006	"" []	76147	\N	\N	EFO	0	EFO	Pyridoxine-dependent epilepsy	Pyridoxine-dependent epilepsy
Orphanet:68385	Orphanet:3006	\N	"" []	Orphanet:3006	"" []	218998	\N	\N	EFO	1	EFO	Neurometabolic disease	Pyridoxine-dependent epilepsy
Orphanet:79192	Orphanet:3006	\N	"" []	Orphanet:3006	"" []	218999	\N	\N	EFO	1	EFO	Disorder of pyridoxine metabolism	Pyridoxine-dependent epilepsy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:3006	"" []	574215	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Pyridoxine-dependent epilepsy
Orphanet:79214	Orphanet:79192	\N	"" []	Orphanet:3006	"" []	574216	\N	\N	EFO	2	EFO	Disorder of biogenic amine metabolism and transport	Pyridoxine-dependent epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3006	"" []	1156934	\N	\N	EFO	3	EFO	genetic disorder	Pyridoxine-dependent epilepsy
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:3006	"" []	1156935	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Pyridoxine-dependent epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3006	"" []	3190290	\N	\N	EFO	5	EFO	disease	Pyridoxine-dependent epilepsy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3006	"" []	2039956	\N	\N	EFO	4	EFO	genetic disorder	Pyridoxine-dependent epilepsy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3006	"" []	2039957	\N	\N	EFO	4	EFO	metabolic disease	Pyridoxine-dependent epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3006	"" []	4133821	\N	\N	EFO	6	EFO	disposition	Pyridoxine-dependent epilepsy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3006	"" []	3190291	\N	\N	EFO	5	EFO	disease	Pyridoxine-dependent epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3006	"" []	5182526	\N	\N	EFO	7	EFO	material property	Pyridoxine-dependent epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3006	"" []	5997891	\N	\N	EFO	8	EFO	experimental factor	Pyridoxine-dependent epilepsy
Orphanet:300605	\N	\N	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	76148	\N	\N	EFO	0	EFO	Juvenile amyotrophic lateral sclerosis	Juvenile amyotrophic lateral sclerosis
EFO:0000253	Orphanet:300605	\N	"An autosomal dominant inherited form of amyloidosis." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	219000	\N	\N	EFO	1	EFO	amyotrophic lateral sclerosis	Juvenile amyotrophic lateral sclerosis
Orphanet:98505	Orphanet:300605	\N	"" []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	219001	\N	\N	EFO	1	EFO	Genetic motor neuron disease	Juvenile amyotrophic lateral sclerosis
EFO:0003782	EFO:0000253	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	574217	\N	\N	EFO	2	EFO	motor neuron disease	Juvenile amyotrophic lateral sclerosis
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	574218	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Juvenile amyotrophic lateral sclerosis
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	1156936	\N	\N	EFO	3	EFO	neurodegenerative disease	Juvenile amyotrophic lateral sclerosis
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	1156937	\N	\N	EFO	3	EFO	muscular disease	Juvenile amyotrophic lateral sclerosis
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	1156938	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Juvenile amyotrophic lateral sclerosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	2039958	\N	\N	EFO	4	EFO	nervous system disease	Juvenile amyotrophic lateral sclerosis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	2039959	\N	\N	EFO	4	EFO	skeletal system disease	Juvenile amyotrophic lateral sclerosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	2039960	\N	\N	EFO	4	EFO	genetic disorder	Juvenile amyotrophic lateral sclerosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	3190292	\N	\N	EFO	5	EFO	disease	Juvenile amyotrophic lateral sclerosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	3190293	\N	\N	EFO	5	EFO	disease	Juvenile amyotrophic lateral sclerosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	3190294	\N	\N	EFO	5	EFO	disease	Juvenile amyotrophic lateral sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	4397193	\N	\N	EFO	6	EFO	disposition	Juvenile amyotrophic lateral sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	5414775	\N	\N	EFO	7	EFO	material property	Juvenile amyotrophic lateral sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300605	"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." []	6150933	\N	\N	EFO	8	EFO	experimental factor	Juvenile amyotrophic lateral sclerosis
Orphanet:300751	\N	\N	"" []	Orphanet:300751	"" []	76149	\N	\N	EFO	0	EFO	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Orphanet:217607	Orphanet:300751	\N	"" []	Orphanet:300751	"" []	219002	\N	\N	EFO	1	EFO	Familial dilated cardiomyopathy	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:300751	"" []	574219	\N	\N	EFO	2	EFO	cardiomyopathy	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:300751	"" []	574220	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:300751	"" []	1156939	\N	\N	EFO	3	EFO	heart disease	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:300751	"" []	1156940	\N	\N	EFO	3	EFO	genetic disorder	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:300751	"" []	1156941	\N	\N	EFO	3	EFO	heart disease	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:300751	"" []	2039961	\N	\N	EFO	4	EFO	cardiovascular disease	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300751	"" []	2039962	\N	\N	EFO	4	EFO	disease	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:300751	"" []	3190295	\N	\N	EFO	5	EFO	disease	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:300751	"" []	4397194	\N	\N	EFO	6	EFO	disposition	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:300751	"" []	5182527	\N	\N	EFO	7	EFO	material property	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:300751	"" []	5997892	\N	\N	EFO	8	EFO	experimental factor	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Orphanet:3008	\N	\N	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	Orphanet:3008	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	76150	\N	\N	EFO	0	EFO	Pyruvate carboxylase deficiency	Pyruvate carboxylase deficiency
Orphanet:79177	Orphanet:3008	\N	"" []	Orphanet:3008	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	219003	\N	\N	EFO	1	EFO	Gluconeogenesis disorder	Pyruvate carboxylase deficiency
Orphanet:79161	Orphanet:79177	\N	"" []	Orphanet:3008	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	574221	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Pyruvate carboxylase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:3008	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	1156942	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Pyruvate carboxylase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3008	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	2039963	\N	\N	EFO	4	EFO	genetic disorder	Pyruvate carboxylase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3008	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	2039964	\N	\N	EFO	4	EFO	metabolic disease	Pyruvate carboxylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3008	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	3190297	\N	\N	EFO	5	EFO	disease	Pyruvate carboxylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3008	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	3190298	\N	\N	EFO	5	EFO	disease	Pyruvate carboxylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3008	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	4397196	\N	\N	EFO	6	EFO	disposition	Pyruvate carboxylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3008	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	5414777	\N	\N	EFO	7	EFO	material property	Pyruvate carboxylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3008	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	6150934	\N	\N	EFO	8	EFO	experimental factor	Pyruvate carboxylase deficiency
Orphanet:3010	\N	\N	"" []	Orphanet:3010	"" []	76151	\N	\N	EFO	0	EFO	Qazi-Markouizos syndrome	Qazi-Markouizos syndrome
Orphanet:183763	Orphanet:3010	\N	"" []	Orphanet:3010	"" []	219004	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Qazi-Markouizos syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3010	"" []	574222	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Qazi-Markouizos syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3010	"" []	1156943	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qazi-Markouizos syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3010	"" []	2039965	\N	\N	EFO	4	EFO	genetic disorder	Qazi-Markouizos syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3010	"" []	3190299	\N	\N	EFO	5	EFO	disease	Qazi-Markouizos syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3010	"" []	4397197	\N	\N	EFO	6	EFO	disposition	Qazi-Markouizos syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3010	"" []	5414778	\N	\N	EFO	7	EFO	material property	Qazi-Markouizos syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3010	"" []	6150935	\N	\N	EFO	8	EFO	experimental factor	Qazi-Markouizos syndrome
Orphanet:3011	\N	\N	"" []	Orphanet:3011	"" []	76152	\N	\N	EFO	0	EFO	Spastic tetraplegia - retinitis pigmentosa - intellectual disability	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
Orphanet:183763	Orphanet:3011	\N	"" []	Orphanet:3011	"" []	219005	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
Orphanet:98661	Orphanet:3011	\N	"" []	Orphanet:3011	"" []	219006	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3011	"" []	574223	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:3011	"" []	574224	\N	\N	EFO	2	EFO	Retinal dystrophy	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3011	"" []	1156944	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:3011	"" []	1156945	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3011	"" []	2039966	\N	\N	EFO	4	EFO	genetic disorder	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:3011	"" []	2039967	\N	\N	EFO	4	EFO	Rare genetic eye disease	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3011	"" []	4397199	\N	\N	EFO	6	EFO	disease	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3011	"" []	3190301	\N	\N	EFO	5	EFO	genetic disorder	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3011	"" []	3190302	\N	\N	EFO	5	EFO	eye disease	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3011	"" []	5182528	\N	\N	EFO	7	EFO	disposition	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3011	"" []	4397200	\N	\N	EFO	6	EFO	disease	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3011	"" []	5997893	\N	\N	EFO	8	EFO	material property	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3011	"" []	6551226	\N	\N	EFO	9	EFO	experimental factor	Spastic tetraplegia - retinitis pigmentosa - intellectual disability
Orphanet:3015	\N	\N	"" []	Orphanet:3015	"" []	76153	\N	\N	EFO	0	EFO	Radio-renal syndrome	Radio-renal syndrome
Orphanet:404574	Orphanet:3015	\N	"" []	Orphanet:3015	"" []	219007	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Radio-renal syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:3015	"" []	574225	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Radio-renal syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:3015	"" []	574226	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Radio-renal syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3015	"" []	1156946	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Radio-renal syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3015	"" []	1156947	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Radio-renal syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3015	"" []	2039968	\N	\N	EFO	4	EFO	Rare genetic bone disease	Radio-renal syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3015	"" []	2039969	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Radio-renal syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3015	"" []	2039970	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Radio-renal syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3015	"" []	3190303	\N	\N	EFO	5	EFO	genetic disorder	Radio-renal syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3015	"" []	3190304	\N	\N	EFO	5	EFO	bone disease	Radio-renal syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3015	"" []	3190305	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Radio-renal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3015	"" []	4397203	\N	\N	EFO	6	EFO	genetic disorder	Radio-renal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3015	"" []	5182529	\N	\N	EFO	7	EFO	disease	Radio-renal syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3015	"" []	4397202	\N	\N	EFO	6	EFO	skeletal system disease	Radio-renal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3015	"" []	5997894	\N	\N	EFO	8	EFO	disposition	Radio-renal syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3015	"" []	5414781	\N	\N	EFO	7	EFO	disease	Radio-renal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3015	"" []	6551227	\N	\N	EFO	9	EFO	material property	Radio-renal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3015	"" []	6889359	\N	\N	EFO	10	EFO	experimental factor	Radio-renal syndrome
Orphanet:3016	\N	\N	"" []	Orphanet:3016	"" []	76154	\N	\N	EFO	0	EFO	Radius absent - anogenital anomalies	Radius absent - anogenital anomalies
Orphanet:404574	Orphanet:3016	\N	"" []	Orphanet:3016	"" []	219008	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Radius absent - anogenital anomalies
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:3016	"" []	574227	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Radius absent - anogenital anomalies
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:3016	"" []	574228	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Radius absent - anogenital anomalies
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3016	"" []	1156948	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Radius absent - anogenital anomalies
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3016	"" []	1156949	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Radius absent - anogenital anomalies
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3016	"" []	2039971	\N	\N	EFO	4	EFO	Rare genetic bone disease	Radius absent - anogenital anomalies
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3016	"" []	2039972	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Radius absent - anogenital anomalies
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3016	"" []	2039973	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Radius absent - anogenital anomalies
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3016	"" []	3190307	\N	\N	EFO	5	EFO	genetic disorder	Radius absent - anogenital anomalies
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3016	"" []	3190308	\N	\N	EFO	5	EFO	bone disease	Radius absent - anogenital anomalies
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3016	"" []	3190309	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Radius absent - anogenital anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3016	"" []	4397206	\N	\N	EFO	6	EFO	genetic disorder	Radius absent - anogenital anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3016	"" []	5182530	\N	\N	EFO	7	EFO	disease	Radius absent - anogenital anomalies
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3016	"" []	4397205	\N	\N	EFO	6	EFO	skeletal system disease	Radius absent - anogenital anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3016	"" []	5997895	\N	\N	EFO	8	EFO	disposition	Radius absent - anogenital anomalies
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3016	"" []	5414783	\N	\N	EFO	7	EFO	disease	Radius absent - anogenital anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3016	"" []	6551228	\N	\N	EFO	9	EFO	material property	Radius absent - anogenital anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3016	"" []	6889360	\N	\N	EFO	10	EFO	experimental factor	Radius absent - anogenital anomalies
Orphanet:3019	\N	\N	"" []	Orphanet:3019	"" []	76155	\N	\N	EFO	0	EFO	Ramon syndrome	Ramon syndrome
Orphanet:183580	Orphanet:3019	\N	"" []	Orphanet:3019	"" []	219009	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Ramon syndrome
Orphanet:93450	Orphanet:3019	\N	"" []	Orphanet:3019	"" []	219010	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Ramon syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:3019	"" []	574229	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ramon syndrome
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:3019	"" []	574230	\N	\N	EFO	2	EFO	Primary bone dysplasia	Ramon syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3019	"" []	3190314	\N	\N	EFO	5	EFO	genetic disorder	Ramon syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3019	"" []	1156951	\N	\N	EFO	3	EFO	Rare genetic bone disease	Ramon syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3019	"" []	1156952	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Ramon syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3019	"" []	4066927	\N	\N	EFO	6	EFO	disease	Ramon syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3019	"" []	2039975	\N	\N	EFO	4	EFO	genetic disorder	Ramon syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3019	"" []	2039976	\N	\N	EFO	4	EFO	bone disease	Ramon syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3019	"" []	2039977	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ramon syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3019	"" []	5059947	\N	\N	EFO	7	EFO	disposition	Ramon syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3019	"" []	3190313	\N	\N	EFO	5	EFO	skeletal system disease	Ramon syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3019	"" []	5877272	\N	\N	EFO	8	EFO	material property	Ramon syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3019	"" []	4397208	\N	\N	EFO	6	EFO	disease	Ramon syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3019	"" []	6470498	\N	\N	EFO	9	EFO	experimental factor	Ramon syndrome
Orphanet:302	\N	\N	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	76156	\N	\N	EFO	0	EFO	Epidermodysplasia verruciformis	Epidermodysplasia verruciformis
Orphanet:183494	Orphanet:302	\N	"" []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	219011	\N	\N	EFO	1	EFO	Genetic immune deficiency with skin involvement	Epidermodysplasia verruciformis
Orphanet:331193	Orphanet:302	\N	"" []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	219012	\N	\N	EFO	1	EFO	Other immunodeficiency syndromes due to defects in innate immunity	Epidermodysplasia verruciformis
Orphanet:68346	Orphanet:183494	\N	"" []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	574231	\N	\N	EFO	2	EFO	Rare genetic skin disease	Epidermodysplasia verruciformis
Orphanet:101988	Orphanet:331193	\N	"" []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	574232	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Epidermodysplasia verruciformis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	1156953	\N	\N	EFO	3	EFO	genetic disorder	Epidermodysplasia verruciformis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	1156954	\N	\N	EFO	3	EFO	skin disease	Epidermodysplasia verruciformis
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	1156955	\N	\N	EFO	3	EFO	Primary immunodeficiency	Epidermodysplasia verruciformis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	4397210	\N	\N	EFO	6	EFO	disease	Epidermodysplasia verruciformis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	2039979	\N	\N	EFO	4	EFO	disease	Epidermodysplasia verruciformis
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	2039980	\N	\N	EFO	4	EFO	Rare genetic immune disease	Epidermodysplasia verruciformis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	5059948	\N	\N	EFO	7	EFO	disposition	Epidermodysplasia verruciformis
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	3190316	\N	\N	EFO	5	EFO	genetic disorder	Epidermodysplasia verruciformis
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	3190317	\N	\N	EFO	5	EFO	immune system disease	Epidermodysplasia verruciformis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	5877273	\N	\N	EFO	8	EFO	material property	Epidermodysplasia verruciformis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	4397211	\N	\N	EFO	6	EFO	disease	Epidermodysplasia verruciformis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:302	"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." []	6470499	\N	\N	EFO	9	EFO	experimental factor	Epidermodysplasia verruciformis
Orphanet:3020	\N	\N	"" []	Orphanet:3020	"" []	76157	\N	\N	EFO	0	EFO	Ramsay-Hunt syndrome	Ramsay-Hunt syndrome
Orphanet:307067	Orphanet:3020	\N	"" []	Orphanet:3020	"" []	219013	\N	\N	EFO	1	EFO	Rare genetic disease with myoclonus as a major feature	Ramsay-Hunt syndrome
Orphanet:307064	Orphanet:307067	\N	"" []	Orphanet:3020	"" []	574233	\N	\N	EFO	2	EFO	Rare genetic myoclonus	Ramsay-Hunt syndrome
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:3020	"" []	1156956	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Ramsay-Hunt syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:3020	"" []	2039981	\N	\N	EFO	4	EFO	movement disorder	Ramsay-Hunt syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:3020	"" []	2039982	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Ramsay-Hunt syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3020	"" []	3190318	\N	\N	EFO	5	EFO	nervous system disease	Ramsay-Hunt syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3020	"" []	3190319	\N	\N	EFO	5	EFO	genetic disorder	Ramsay-Hunt syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3020	"" []	4397212	\N	\N	EFO	6	EFO	disease	Ramsay-Hunt syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3020	"" []	4397213	\N	\N	EFO	6	EFO	disease	Ramsay-Hunt syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3020	"" []	5414786	\N	\N	EFO	7	EFO	disposition	Ramsay-Hunt syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3020	"" []	6150939	\N	\N	EFO	8	EFO	material property	Ramsay-Hunt syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3020	"" []	6633450	\N	\N	EFO	9	EFO	experimental factor	Ramsay-Hunt syndrome
Orphanet:3021	\N	\N	"" []	Orphanet:3021	"" []	76158	\N	\N	EFO	0	EFO	RAPADILINO syndrome	RAPADILINO syndrome
Orphanet:139039	Orphanet:3021	\N	"" []	Orphanet:3021	"" []	219014	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	RAPADILINO syndrome
Orphanet:330206	Orphanet:3021	\N	"" []	Orphanet:3021	"" []	219015	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	RAPADILINO syndrome
Orphanet:404574	Orphanet:3021	\N	"" []	Orphanet:3021	"" []	219016	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	RAPADILINO syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3021	"" []	574234	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	RAPADILINO syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3021	"" []	574235	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	RAPADILINO syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:3021	"" []	574236	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	RAPADILINO syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:3021	"" []	574237	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	RAPADILINO syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3021	"" []	1156957	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	RAPADILINO syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3021	"" []	1156958	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	RAPADILINO syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3021	"" []	1156959	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	RAPADILINO syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3021	"" []	1156960	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	RAPADILINO syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3021	"" []	2039983	\N	\N	EFO	4	EFO	Genetic head and neck malformation	RAPADILINO syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3021	"" []	4397214	\N	\N	EFO	6	EFO	genetic disorder	RAPADILINO syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3021	"" []	2039985	\N	\N	EFO	4	EFO	Rare genetic bone disease	RAPADILINO syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3021	"" []	2039986	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	RAPADILINO syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3021	"" []	2039987	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	RAPADILINO syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3021	"" []	3190320	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	RAPADILINO syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3021	"" []	5059949	\N	\N	EFO	7	EFO	disease	RAPADILINO syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3021	"" []	3190322	\N	\N	EFO	5	EFO	genetic disorder	RAPADILINO syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3021	"" []	3190323	\N	\N	EFO	5	EFO	bone disease	RAPADILINO syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3021	"" []	3190324	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	RAPADILINO syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3021	"" []	5877274	\N	\N	EFO	8	EFO	disposition	RAPADILINO syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3021	"" []	4397216	\N	\N	EFO	6	EFO	skeletal system disease	RAPADILINO syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3021	"" []	6470500	\N	\N	EFO	9	EFO	material property	RAPADILINO syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3021	"" []	5414788	\N	\N	EFO	7	EFO	disease	RAPADILINO syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3021	"" []	6848565	\N	\N	EFO	10	EFO	experimental factor	RAPADILINO syndrome
Orphanet:3027	\N	\N	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	76159	\N	\N	EFO	0	EFO	Caudal regression sequence	Caudal regression sequence
Orphanet:117573	Orphanet:3027	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	219017	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Caudal regression sequence
Orphanet:165707	Orphanet:3027	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	219018	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Caudal regression sequence
Orphanet:268843	Orphanet:3027	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	219019	\N	\N	EFO	1	EFO	Malformation of the neurenteric canal, spinal cord and column	Caudal regression sequence
Orphanet:93547	Orphanet:3027	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	219020	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Caudal regression sequence
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	574238	\N	\N	EFO	2	EFO	Anorectal malformation	Caudal regression sequence
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	574239	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Caudal regression sequence
Orphanet:3388	Orphanet:268843	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	574240	\N	\N	EFO	2	EFO	Neural tube defect	Caudal regression sequence
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	574241	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Caudal regression sequence
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	1156961	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Caudal regression sequence
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	1156962	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Caudal regression sequence
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	1156963	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Caudal regression sequence
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	1156964	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Caudal regression sequence
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	1156965	\N	\N	EFO	3	EFO	Rare genetic renal disease	Caudal regression sequence
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	2039988	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Caudal regression sequence
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	2039989	\N	\N	EFO	4	EFO	genetic disorder	Caudal regression sequence
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	2039990	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Caudal regression sequence
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	4397218	\N	\N	EFO	6	EFO	genetic disorder	Caudal regression sequence
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	2039992	\N	\N	EFO	4	EFO	genetic disorder	Caudal regression sequence
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	5059950	\N	\N	EFO	7	EFO	disease	Caudal regression sequence
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	3190328	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Caudal regression sequence
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	3190329	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Caudal regression sequence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	5877275	\N	\N	EFO	8	EFO	disposition	Caudal regression sequence
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	4397219	\N	\N	EFO	6	EFO	genetic disorder	Caudal regression sequence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	6470501	\N	\N	EFO	9	EFO	material property	Caudal regression sequence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3027	"Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." []	6848566	\N	\N	EFO	10	EFO	experimental factor	Caudal regression sequence
Orphanet:303	\N	\N	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	76160	\N	\N	EFO	0	EFO	Dystrophic epidermolysis bullosa	Dystrophic epidermolysis bullosa
Orphanet:139027	Orphanet:303	\N	"" []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	219021	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Dystrophic epidermolysis bullosa
Orphanet:79361	Orphanet:303	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	219022	\N	\N	EFO	1	EFO	Inherited epidermolysis bullosa	Dystrophic epidermolysis bullosa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	574242	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Dystrophic epidermolysis bullosa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	574243	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	1156966	\N	\N	EFO	3	EFO	genetic disorder	Dystrophic epidermolysis bullosa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	1156967	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dystrophic epidermolysis bullosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	3190331	\N	\N	EFO	5	EFO	disease	Dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	2039994	\N	\N	EFO	4	EFO	genetic disorder	Dystrophic epidermolysis bullosa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	2039995	\N	\N	EFO	4	EFO	skin disease	Dystrophic epidermolysis bullosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	4133825	\N	\N	EFO	6	EFO	disposition	Dystrophic epidermolysis bullosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	3190332	\N	\N	EFO	5	EFO	disease	Dystrophic epidermolysis bullosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	5182534	\N	\N	EFO	7	EFO	material property	Dystrophic epidermolysis bullosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:303	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	5997899	\N	\N	EFO	8	EFO	experimental factor	Dystrophic epidermolysis bullosa
Orphanet:3032	\N	\N	"" []	Orphanet:3032	"" []	76161	\N	\N	EFO	0	EFO	NPHP3-related Meckel-like syndrome	NPHP3-related Meckel-like syndrome
Orphanet:269570	Orphanet:3032	\N	"" []	Orphanet:3032	"" []	219023	\N	\N	EFO	1	EFO	Genetic syndrome with a Dandy-Walker malformation as major feature	NPHP3-related Meckel-like syndrome
Orphanet:93547	Orphanet:3032	\N	"" []	Orphanet:3032	"" []	219024	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	NPHP3-related Meckel-like syndrome
Orphanet:269567	Orphanet:269570	\N	"" []	Orphanet:3032	"" []	574244	\N	\N	EFO	2	EFO	Genetic syndrome with a cerebellar malformation as major feature	NPHP3-related Meckel-like syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:3032	"" []	574245	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	NPHP3-related Meckel-like syndrome
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:3032	"" []	1156968	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	NPHP3-related Meckel-like syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:3032	"" []	1156969	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	NPHP3-related Meckel-like syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:3032	"" []	1156970	\N	\N	EFO	3	EFO	Rare genetic renal disease	NPHP3-related Meckel-like syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:3032	"" []	2039996	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	NPHP3-related Meckel-like syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3032	"" []	4397221	\N	\N	EFO	6	EFO	genetic disorder	NPHP3-related Meckel-like syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3032	"" []	2039998	\N	\N	EFO	4	EFO	genetic disorder	NPHP3-related Meckel-like syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:3032	"" []	3190333	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	NPHP3-related Meckel-like syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:3032	"" []	3190334	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	NPHP3-related Meckel-like syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3032	"" []	5059951	\N	\N	EFO	7	EFO	disease	NPHP3-related Meckel-like syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3032	"" []	4397222	\N	\N	EFO	6	EFO	genetic disorder	NPHP3-related Meckel-like syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3032	"" []	5877276	\N	\N	EFO	8	EFO	disposition	NPHP3-related Meckel-like syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3032	"" []	6470502	\N	\N	EFO	9	EFO	material property	NPHP3-related Meckel-like syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3032	"" []	6848567	\N	\N	EFO	10	EFO	experimental factor	NPHP3-related Meckel-like syndrome
Orphanet:3034	\N	\N	"" []	Orphanet:3034	"" []	76162	\N	\N	EFO	0	EFO	Delayed membranous cranial ossification	Delayed membranous cranial ossification
Orphanet:183542	Orphanet:3034	\N	"" []	Orphanet:3034	"" []	219025	\N	\N	EFO	1	EFO	Genetic cranial malformation	Delayed membranous cranial ossification
Orphanet:93451	Orphanet:3034	\N	"" []	Orphanet:3034	"" []	219026	\N	\N	EFO	1	EFO	Cleidocranial dysplasia and isolated cranial ossification defect	Delayed membranous cranial ossification
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:3034	"" []	574246	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Delayed membranous cranial ossification
Orphanet:364526	Orphanet:93451	\N	"" []	Orphanet:3034	"" []	574247	\N	\N	EFO	2	EFO	Primary bone dysplasia	Delayed membranous cranial ossification
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3034	"" []	3190339	\N	\N	EFO	5	EFO	genetic disorder	Delayed membranous cranial ossification
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3034	"" []	1156972	\N	\N	EFO	3	EFO	Rare genetic bone disease	Delayed membranous cranial ossification
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3034	"" []	1156973	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Delayed membranous cranial ossification
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3034	"" []	4066928	\N	\N	EFO	6	EFO	disease	Delayed membranous cranial ossification
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3034	"" []	2040000	\N	\N	EFO	4	EFO	genetic disorder	Delayed membranous cranial ossification
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3034	"" []	2040001	\N	\N	EFO	4	EFO	bone disease	Delayed membranous cranial ossification
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3034	"" []	2040002	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Delayed membranous cranial ossification
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3034	"" []	5059952	\N	\N	EFO	7	EFO	disposition	Delayed membranous cranial ossification
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3034	"" []	3190338	\N	\N	EFO	5	EFO	skeletal system disease	Delayed membranous cranial ossification
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3034	"" []	5877277	\N	\N	EFO	8	EFO	material property	Delayed membranous cranial ossification
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3034	"" []	4397225	\N	\N	EFO	6	EFO	disease	Delayed membranous cranial ossification
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3034	"" []	6470503	\N	\N	EFO	9	EFO	experimental factor	Delayed membranous cranial ossification
Orphanet:3035	\N	\N	"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." []	Orphanet:3035	"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." []	76163	\N	\N	EFO	0	EFO	Growth delay - hydrocephaly - lung hypoplasia	Growth delay - hydrocephaly - lung hypoplasia
Orphanet:183622	Orphanet:3035	\N	"" []	Orphanet:3035	"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." []	219027	\N	\N	EFO	1	EFO	Genetic respiratory malformation	Growth delay - hydrocephaly - lung hypoplasia
Orphanet:156610	Orphanet:183622	\N	"" []	Orphanet:3035	"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." []	574248	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Growth delay - hydrocephaly - lung hypoplasia
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3035	"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." []	1156974	\N	\N	EFO	3	EFO	genetic disorder	Growth delay - hydrocephaly - lung hypoplasia
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:3035	"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." []	1156975	\N	\N	EFO	3	EFO	respiratory system disease	Growth delay - hydrocephaly - lung hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3035	"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." []	2040003	\N	\N	EFO	4	EFO	disease	Growth delay - hydrocephaly - lung hypoplasia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3035	"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." []	2040004	\N	\N	EFO	4	EFO	disease	Growth delay - hydrocephaly - lung hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3035	"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." []	3190340	\N	\N	EFO	5	EFO	disposition	Growth delay - hydrocephaly - lung hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3035	"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." []	4397226	\N	\N	EFO	6	EFO	material property	Growth delay - hydrocephaly - lung hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3035	"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." []	5414793	\N	\N	EFO	7	EFO	experimental factor	Growth delay - hydrocephaly - lung hypoplasia
Orphanet:3038	\N	\N	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	76164	\N	\N	EFO	0	EFO	Delayed speech - facial asymmetry - strabismus - ear lobe creases	Delayed speech - facial asymmetry - strabismus - ear lobe creases
Orphanet:102283	Orphanet:3038	\N	"" []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	219028	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Delayed speech - facial asymmetry - strabismus - ear lobe creases
Orphanet:183763	Orphanet:3038	\N	"" []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	219029	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Delayed speech - facial asymmetry - strabismus - ear lobe creases
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	574249	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Delayed speech - facial asymmetry - strabismus - ear lobe creases
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	574250	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Delayed speech - facial asymmetry - strabismus - ear lobe creases
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	1156976	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Delayed speech - facial asymmetry - strabismus - ear lobe creases
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	1156977	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Delayed speech - facial asymmetry - strabismus - ear lobe creases
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	2040005	\N	\N	EFO	4	EFO	genetic disorder	Delayed speech - facial asymmetry - strabismus - ear lobe creases
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	2040006	\N	\N	EFO	4	EFO	genetic disorder	Delayed speech - facial asymmetry - strabismus - ear lobe creases
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	3190341	\N	\N	EFO	5	EFO	disease	Delayed speech - facial asymmetry - strabismus - ear lobe creases
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	4397227	\N	\N	EFO	6	EFO	disposition	Delayed speech - facial asymmetry - strabismus - ear lobe creases
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	5414794	\N	\N	EFO	7	EFO	material property	Delayed speech - facial asymmetry - strabismus - ear lobe creases
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3038	"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." []	6150943	\N	\N	EFO	8	EFO	experimental factor	Delayed speech - facial asymmetry - strabismus - ear lobe creases
Orphanet:30391	\N	\N	"" []	Orphanet:30391	"" []	76165	\N	\N	EFO	0	EFO	Biliary atresia	Biliary atresia
EFO:0001421	Orphanet:30391	\N	"Pathological processes of the LIVER." []	Orphanet:30391	"" []	219030	\N	\N	EFO	1	EFO	liver disease	Biliary atresia
EFO:0000405	EFO:0001421	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:30391	"" []	574251	\N	\N	EFO	2	EFO	digestive system disease	Biliary atresia
EFO:0001379	EFO:0001421	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:30391	"" []	574252	\N	\N	EFO	2	EFO	endocrine system disease	Biliary atresia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:30391	"" []	1156978	\N	\N	EFO	3	EFO	disease	Biliary atresia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:30391	"" []	1156979	\N	\N	EFO	3	EFO	disease	Biliary atresia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:30391	"" []	2040007	\N	\N	EFO	4	EFO	disposition	Biliary atresia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:30391	"" []	3190342	\N	\N	EFO	5	EFO	material property	Biliary atresia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:30391	"" []	4397228	\N	\N	EFO	6	EFO	experimental factor	Biliary atresia
Orphanet:304	\N	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:304	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	76166	\N	\N	EFO	0	EFO	Epidermolysis bullosa simplex	Epidermolysis bullosa simplex
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:304	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	219031	\N	\N	EFO	1	EFO	Inherited epidermolysis bullosa	Epidermolysis bullosa simplex
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:304	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	574253	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Epidermolysis bullosa simplex
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:304	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	1156980	\N	\N	EFO	3	EFO	Rare genetic skin disease	Epidermolysis bullosa simplex
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:304	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	2040008	\N	\N	EFO	4	EFO	genetic disorder	Epidermolysis bullosa simplex
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:304	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	2040009	\N	\N	EFO	4	EFO	skin disease	Epidermolysis bullosa simplex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:304	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	3190343	\N	\N	EFO	5	EFO	disease	Epidermolysis bullosa simplex
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:304	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	3190344	\N	\N	EFO	5	EFO	disease	Epidermolysis bullosa simplex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:304	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	4397229	\N	\N	EFO	6	EFO	disposition	Epidermolysis bullosa simplex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:304	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	5414795	\N	\N	EFO	7	EFO	material property	Epidermolysis bullosa simplex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:304	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	6150944	\N	\N	EFO	8	EFO	experimental factor	Epidermolysis bullosa simplex
Orphanet:3041	\N	\N	"" []	Orphanet:3041	"" []	76167	\N	\N	EFO	0	EFO	Intellectual disability - balding - patella luxation - acromicria	Intellectual disability - balding - patella luxation - acromicria
Orphanet:102283	Orphanet:3041	\N	"" []	Orphanet:3041	"" []	219032	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability - balding - patella luxation - acromicria
Orphanet:183763	Orphanet:3041	\N	"" []	Orphanet:3041	"" []	219033	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - balding - patella luxation - acromicria
Orphanet:93436	Orphanet:3041	\N	"" []	Orphanet:3041	"" []	219034	\N	\N	EFO	1	EFO	Acromelic dysplasia	Intellectual disability - balding - patella luxation - acromicria
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3041	"" []	574254	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability - balding - patella luxation - acromicria
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3041	"" []	574255	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - balding - patella luxation - acromicria
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:3041	"" []	574256	\N	\N	EFO	2	EFO	Primary bone dysplasia	Intellectual disability - balding - patella luxation - acromicria
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3041	"" []	1156981	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability - balding - patella luxation - acromicria
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3041	"" []	1156982	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - balding - patella luxation - acromicria
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3041	"" []	1156983	\N	\N	EFO	3	EFO	Rare genetic bone disease	Intellectual disability - balding - patella luxation - acromicria
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3041	"" []	1156984	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Intellectual disability - balding - patella luxation - acromicria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3041	"" []	3190347	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability - balding - patella luxation - acromicria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3041	"" []	2040011	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - balding - patella luxation - acromicria
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3041	"" []	2040012	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - balding - patella luxation - acromicria
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3041	"" []	2040013	\N	\N	EFO	4	EFO	bone disease	Intellectual disability - balding - patella luxation - acromicria
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3041	"" []	2040014	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability - balding - patella luxation - acromicria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3041	"" []	4133827	\N	\N	EFO	6	EFO	disease	Intellectual disability - balding - patella luxation - acromicria
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3041	"" []	3190346	\N	\N	EFO	5	EFO	skeletal system disease	Intellectual disability - balding - patella luxation - acromicria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3041	"" []	5182536	\N	\N	EFO	7	EFO	disposition	Intellectual disability - balding - patella luxation - acromicria
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3041	"" []	4397231	\N	\N	EFO	6	EFO	disease	Intellectual disability - balding - patella luxation - acromicria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3041	"" []	5997901	\N	\N	EFO	8	EFO	material property	Intellectual disability - balding - patella luxation - acromicria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3041	"" []	6551231	\N	\N	EFO	9	EFO	experimental factor	Intellectual disability - balding - patella luxation - acromicria
Orphanet:3042	\N	\N	"" []	Orphanet:3042	"" []	76168	\N	\N	EFO	0	EFO	Intellectual disability - cataracts - calcified pinnae - myopathy	Intellectual disability - cataracts - calcified pinnae - myopathy
Orphanet:183763	Orphanet:3042	\N	"" []	Orphanet:3042	"" []	219035	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - cataracts - calcified pinnae - myopathy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3042	"" []	574257	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - cataracts - calcified pinnae - myopathy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3042	"" []	1156985	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - cataracts - calcified pinnae - myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3042	"" []	2040015	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - cataracts - calcified pinnae - myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3042	"" []	3190348	\N	\N	EFO	5	EFO	disease	Intellectual disability - cataracts - calcified pinnae - myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3042	"" []	4397232	\N	\N	EFO	6	EFO	disposition	Intellectual disability - cataracts - calcified pinnae - myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3042	"" []	5414797	\N	\N	EFO	7	EFO	material property	Intellectual disability - cataracts - calcified pinnae - myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3042	"" []	6150946	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability - cataracts - calcified pinnae - myopathy
Orphanet:3044	\N	\N	"" []	Orphanet:3044	"" []	76169	\N	\N	EFO	0	EFO	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
Orphanet:102283	Orphanet:3044	\N	"" []	Orphanet:3044	"" []	219036	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
Orphanet:183763	Orphanet:3044	\N	"" []	Orphanet:3044	"" []	219037	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3044	"" []	574258	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3044	"" []	574259	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3044	"" []	1156986	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3044	"" []	1156987	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3044	"" []	2040016	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3044	"" []	2040017	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3044	"" []	3190349	\N	\N	EFO	5	EFO	disease	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3044	"" []	4397233	\N	\N	EFO	6	EFO	disposition	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3044	"" []	5414798	\N	\N	EFO	7	EFO	material property	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3044	"" []	6150947	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
Orphanet:3047	\N	\N	"" []	Orphanet:3047	"" []	76170	\N	\N	EFO	0	EFO	Blepharophimosis-intellectual disability syndrome, SBBYS type	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:177107	Orphanet:3047	\N	"" []	Orphanet:3047	"" []	219038	\N	\N	EFO	1	EFO	Syndromic hypothyroidism	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:293642	Orphanet:3047	\N	"" []	Orphanet:3047	"" []	219039	\N	\N	EFO	1	EFO	Blepharophimosis-intellectual disability syndrome	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:226292	Orphanet:177107	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:3047	"" []	574260	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:102283	Orphanet:293642	\N	"" []	Orphanet:3047	"" []	574261	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:183763	Orphanet:293642	\N	"" []	Orphanet:3047	"" []	574262	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:3047	"" []	1156988	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3047	"" []	1156989	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3047	"" []	1156990	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:3047	"" []	2040018	\N	\N	EFO	4	EFO	Rare hypothyroidism	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3047	"" []	2040019	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3047	"" []	2040020	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:3047	"" []	3190350	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Blepharophimosis-intellectual disability syndrome, SBBYS type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3047	"" []	3190351	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome, SBBYS type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3047	"" []	3190352	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome, SBBYS type
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:3047	"" []	4397234	\N	\N	EFO	6	EFO	thyroid disease	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:3047	"" []	4397235	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Blepharophimosis-intellectual disability syndrome, SBBYS type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3047	"" []	6150949	\N	\N	EFO	8	EFO	disease	Blepharophimosis-intellectual disability syndrome, SBBYS type
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3047	"" []	5414799	\N	\N	EFO	7	EFO	endocrine system disease	Blepharophimosis-intellectual disability syndrome, SBBYS type
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3047	"" []	5414800	\N	\N	EFO	7	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome, SBBYS type
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3047	"" []	5414801	\N	\N	EFO	7	EFO	endocrine system disease	Blepharophimosis-intellectual disability syndrome, SBBYS type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3047	"" []	6470504	\N	\N	EFO	9	EFO	disposition	Blepharophimosis-intellectual disability syndrome, SBBYS type
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3047	"" []	6150948	\N	\N	EFO	8	EFO	disease	Blepharophimosis-intellectual disability syndrome, SBBYS type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3047	"" []	6848568	\N	\N	EFO	10	EFO	material property	Blepharophimosis-intellectual disability syndrome, SBBYS type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3047	"" []	7068470	\N	\N	EFO	11	EFO	experimental factor	Blepharophimosis-intellectual disability syndrome, SBBYS type
Orphanet:305	\N	\N	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	76171	\N	\N	EFO	0	EFO	Junctional epidermolysis bullosa	Junctional epidermolysis bullosa
EFO:1000690	Orphanet:305	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	219040	\N	\N	EFO	1	EFO	epidermolysis bullosa	Junctional epidermolysis bullosa
Orphanet:139027	Orphanet:305	\N	"" []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	219041	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Junctional epidermolysis bullosa
Orphanet:79361	Orphanet:305	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	219042	\N	\N	EFO	1	EFO	Inherited epidermolysis bullosa	Junctional epidermolysis bullosa
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	574263	\N	\N	EFO	2	EFO	vesiculobullous skin disease	Junctional epidermolysis bullosa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	574264	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Junctional epidermolysis bullosa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	574265	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Junctional epidermolysis bullosa
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	1156991	\N	\N	EFO	3	EFO	skin disease	Junctional epidermolysis bullosa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	1156992	\N	\N	EFO	3	EFO	genetic disorder	Junctional epidermolysis bullosa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	1156993	\N	\N	EFO	3	EFO	Rare genetic skin disease	Junctional epidermolysis bullosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	3190355	\N	\N	EFO	5	EFO	disease	Junctional epidermolysis bullosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	3190354	\N	\N	EFO	5	EFO	disease	Junctional epidermolysis bullosa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	2040023	\N	\N	EFO	4	EFO	genetic disorder	Junctional epidermolysis bullosa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	2040024	\N	\N	EFO	4	EFO	skin disease	Junctional epidermolysis bullosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	4133828	\N	\N	EFO	6	EFO	disposition	Junctional epidermolysis bullosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	5182537	\N	\N	EFO	7	EFO	material property	Junctional epidermolysis bullosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:305	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	5997902	\N	\N	EFO	8	EFO	experimental factor	Junctional epidermolysis bullosa
Orphanet:3050	\N	\N	"" []	Orphanet:3050	"" []	76172	\N	\N	EFO	0	EFO	Intellectual disability - hypotonia - skin hyperpigmentation	Intellectual disability - hypotonia - skin hyperpigmentation
Orphanet:183763	Orphanet:3050	\N	"" []	Orphanet:3050	"" []	219043	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - hypotonia - skin hyperpigmentation
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3050	"" []	574266	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - hypotonia - skin hyperpigmentation
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3050	"" []	1156994	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - hypotonia - skin hyperpigmentation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3050	"" []	2040025	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - hypotonia - skin hyperpigmentation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3050	"" []	3190356	\N	\N	EFO	5	EFO	disease	Intellectual disability - hypotonia - skin hyperpigmentation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3050	"" []	4397238	\N	\N	EFO	6	EFO	disposition	Intellectual disability - hypotonia - skin hyperpigmentation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3050	"" []	5414804	\N	\N	EFO	7	EFO	material property	Intellectual disability - hypotonia - skin hyperpigmentation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3050	"" []	6150951	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability - hypotonia - skin hyperpigmentation
Orphanet:3051	\N	\N	"" []	Orphanet:3051	"" []	76173	\N	\N	EFO	0	EFO	intellectual disability - sparse hair - brachydactyly	intellectual disability - sparse hair - brachydactyly
Orphanet:102283	Orphanet:3051	\N	"" []	Orphanet:3051	"" []	219044	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	intellectual disability - sparse hair - brachydactyly
Orphanet:183763	Orphanet:3051	\N	"" []	Orphanet:3051	"" []	219045	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	intellectual disability - sparse hair - brachydactyly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3051	"" []	574267	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	intellectual disability - sparse hair - brachydactyly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3051	"" []	574268	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	intellectual disability - sparse hair - brachydactyly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3051	"" []	1156995	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	intellectual disability - sparse hair - brachydactyly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3051	"" []	1156996	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	intellectual disability - sparse hair - brachydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3051	"" []	2040026	\N	\N	EFO	4	EFO	genetic disorder	intellectual disability - sparse hair - brachydactyly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3051	"" []	2040027	\N	\N	EFO	4	EFO	genetic disorder	intellectual disability - sparse hair - brachydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3051	"" []	3190357	\N	\N	EFO	5	EFO	disease	intellectual disability - sparse hair - brachydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3051	"" []	4397239	\N	\N	EFO	6	EFO	disposition	intellectual disability - sparse hair - brachydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3051	"" []	5414805	\N	\N	EFO	7	EFO	material property	intellectual disability - sparse hair - brachydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3051	"" []	6150952	\N	\N	EFO	8	EFO	experimental factor	intellectual disability - sparse hair - brachydactyly
Orphanet:3052	\N	\N	"" []	Orphanet:3052	"" []	76174	\N	\N	EFO	0	EFO	X-linked intellectual disability - seizures - psoriasis	X-linked intellectual disability - seizures - psoriasis
Orphanet:98464	Orphanet:3052	\N	"" []	Orphanet:3052	"" []	219046	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - seizures - psoriasis
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3052	"" []	574269	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - seizures - psoriasis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3052	"" []	1156997	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - seizures - psoriasis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3052	"" []	2040028	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - seizures - psoriasis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3052	"" []	3190358	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - seizures - psoriasis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3052	"" []	4397240	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - seizures - psoriasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3052	"" []	5414806	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - seizures - psoriasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3052	"" []	6150953	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - seizures - psoriasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3052	"" []	6633452	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - seizures - psoriasis
Orphanet:3055	\N	\N	"" []	Orphanet:3055	"" []	76175	\N	\N	EFO	0	EFO	X-linked intellectual disability - short stature - obesity	X-linked intellectual disability - short stature - obesity
Orphanet:98464	Orphanet:3055	\N	"" []	Orphanet:3055	"" []	219047	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - short stature - obesity
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3055	"" []	574270	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - short stature - obesity
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3055	"" []	1156998	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - short stature - obesity
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3055	"" []	2040029	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - short stature - obesity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3055	"" []	3190359	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - short stature - obesity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3055	"" []	4397241	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - short stature - obesity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3055	"" []	5414807	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - short stature - obesity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3055	"" []	6150954	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - short stature - obesity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3055	"" []	6633453	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - short stature - obesity
Orphanet:3056	\N	\N	"" []	Orphanet:3056	"" []	76176	\N	\N	EFO	0	EFO	X-linked intellectual disability, Brooks type	X-linked intellectual disability, Brooks type
Orphanet:98464	Orphanet:3056	\N	"" []	Orphanet:3056	"" []	219048	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Brooks type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3056	"" []	574271	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Brooks type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3056	"" []	1156999	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Brooks type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3056	"" []	2040030	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Brooks type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3056	"" []	3190360	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Brooks type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3056	"" []	4397242	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Brooks type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3056	"" []	5414808	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Brooks type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3056	"" []	6150955	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Brooks type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3056	"" []	6633454	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Brooks type
Orphanet:3057	\N	\N	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	76177	\N	\N	EFO	0	EFO	Monoamine oxidase A deficiency	Monoamine oxidase A deficiency
Orphanet:182076	Orphanet:3057	\N	"" []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	219049	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Monoamine oxidase A deficiency
Orphanet:68385	Orphanet:3057	\N	"" []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	219050	\N	\N	EFO	1	EFO	Neurometabolic disease	Monoamine oxidase A deficiency
Orphanet:79169	Orphanet:3057	\N	"" []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	219051	\N	\N	EFO	1	EFO	Disorder of neurotransmitter metabolism and transport	Monoamine oxidase A deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	574272	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Monoamine oxidase A deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	574273	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Monoamine oxidase A deficiency
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	574274	\N	\N	EFO	2	EFO	Disorder of biogenic amine metabolism and transport	Monoamine oxidase A deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	1157000	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Monoamine oxidase A deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	4397243	\N	\N	EFO	6	EFO	genetic disorder	Monoamine oxidase A deficiency
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	1157002	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Monoamine oxidase A deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	2040031	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Monoamine oxidase A deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	5028436	\N	\N	EFO	7	EFO	disease	Monoamine oxidase A deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	2040033	\N	\N	EFO	4	EFO	genetic disorder	Monoamine oxidase A deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	2040034	\N	\N	EFO	4	EFO	metabolic disease	Monoamine oxidase A deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	3190361	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Monoamine oxidase A deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	5817692	\N	\N	EFO	8	EFO	disposition	Monoamine oxidase A deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	3190364	\N	\N	EFO	5	EFO	disease	Monoamine oxidase A deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	6410112	\N	\N	EFO	9	EFO	material property	Monoamine oxidase A deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3057	"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." []	6807950	\N	\N	EFO	10	EFO	experimental factor	Monoamine oxidase A deficiency
Orphanet:3059	\N	\N	"" []	Orphanet:3059	"" []	76178	\N	\N	EFO	0	EFO	X-linked intellectual disability, Gu type	X-linked intellectual disability, Gu type
Orphanet:98464	Orphanet:3059	\N	"" []	Orphanet:3059	"" []	219052	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Gu type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3059	"" []	574275	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Gu type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3059	"" []	1157003	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Gu type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3059	"" []	2040035	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Gu type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3059	"" []	3190365	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Gu type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3059	"" []	4397245	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Gu type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3059	"" []	5414810	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Gu type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3059	"" []	6150956	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Gu type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3059	"" []	6633455	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Gu type
Orphanet:306	\N	\N	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	76179	\N	\N	EFO	0	EFO	Benign familial infantile epilepsy	Benign familial infantile epilepsy
Orphanet:166311	Orphanet:306	\N	"" []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	219053	\N	\N	EFO	1	EFO	Benign partial infantile seizures	Benign familial infantile epilepsy
Orphanet:166475	Orphanet:306	\N	"" []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	219054	\N	\N	EFO	1	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Benign familial infantile epilepsy
Orphanet:98258	Orphanet:166311	\N	"" []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	574276	\N	\N	EFO	2	EFO	Infantile epilepsy syndrome	Benign familial infantile epilepsy
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	574277	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Benign familial infantile epilepsy
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	1157004	\N	\N	EFO	3	EFO	Epilepsy syndrome	Benign familial infantile epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	3190366	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Benign familial infantile epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	2040036	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Benign familial infantile epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	4066929	\N	\N	EFO	6	EFO	genetic disorder	Benign familial infantile epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	5059953	\N	\N	EFO	7	EFO	disease	Benign familial infantile epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	5877278	\N	\N	EFO	8	EFO	disposition	Benign familial infantile epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	6470505	\N	\N	EFO	9	EFO	material property	Benign familial infantile epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306	"Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." []	6848569	\N	\N	EFO	10	EFO	experimental factor	Benign familial infantile epilepsy
Orphanet:3061	\N	\N	"" []	Orphanet:3061	"" []	76180	\N	\N	EFO	0	EFO	X-linked intellectual disability, Raynaud type	X-linked intellectual disability, Raynaud type
Orphanet:98464	Orphanet:3061	\N	"" []	Orphanet:3061	"" []	219055	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Raynaud type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3061	"" []	574278	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Raynaud type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3061	"" []	1157006	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Raynaud type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3061	"" []	2040038	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Raynaud type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3061	"" []	3190368	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Raynaud type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3061	"" []	4397247	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Raynaud type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3061	"" []	5414812	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Raynaud type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3061	"" []	6150958	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Raynaud type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3061	"" []	6633456	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Raynaud type
Orphanet:3062	\N	\N	"" []	Orphanet:3062	"" []	76181	\N	\N	EFO	0	EFO	X-linked intellectual disability, Schutz type	X-linked intellectual disability, Schutz type
Orphanet:98464	Orphanet:3062	\N	"" []	Orphanet:3062	"" []	219056	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Schutz type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3062	"" []	574279	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Schutz type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3062	"" []	1157007	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Schutz type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3062	"" []	2040039	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Schutz type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3062	"" []	3190369	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Schutz type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3062	"" []	4397248	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Schutz type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3062	"" []	5414813	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Schutz type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3062	"" []	6150959	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Schutz type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3062	"" []	6633457	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Schutz type
Orphanet:3063	\N	\N	"Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." []	Orphanet:3063	"Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." []	76182	\N	\N	EFO	0	EFO	X-linked intellectual disability, Snyder type	X-linked intellectual disability, Snyder type
Orphanet:98464	Orphanet:3063	\N	"" []	Orphanet:3063	"Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." []	219057	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Snyder type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3063	"Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." []	574280	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Snyder type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3063	"Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." []	1157008	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Snyder type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3063	"Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." []	2040040	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Snyder type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3063	"Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." []	3190370	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Snyder type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3063	"Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." []	4397249	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Snyder type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3063	"Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." []	5414814	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Snyder type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3063	"Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." []	6150960	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Snyder type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3063	"Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." []	6633458	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Snyder type
Orphanet:3064	\N	\N	"" []	Orphanet:3064	"" []	76183	\N	\N	EFO	0	EFO	X-linked intellectual disability, Wittner type	X-linked intellectual disability, Wittner type
Orphanet:98464	Orphanet:3064	\N	"" []	Orphanet:3064	"" []	219058	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Wittner type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3064	"" []	574281	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Wittner type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3064	"" []	1157009	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Wittner type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3064	"" []	2040041	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Wittner type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3064	"" []	3190371	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Wittner type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3064	"" []	4397250	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Wittner type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3064	"" []	5414815	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Wittner type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3064	"" []	6150961	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Wittner type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3064	"" []	6633459	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Wittner type
Orphanet:306436	\N	\N	"" []	Orphanet:306436	"" []	76184	\N	\N	EFO	0	EFO	Congenital sucrase-isomaltase deficiency with starch intolerance	Congenital sucrase-isomaltase deficiency with starch intolerance
Orphanet:35122	Orphanet:306436	\N	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	Orphanet:306436	"" []	219059	\N	\N	EFO	1	EFO	Congenital sucrase-isomaltase deficiency	Congenital sucrase-isomaltase deficiency with starch intolerance
Orphanet:104006	Orphanet:35122	\N	"" []	Orphanet:306436	"" []	574282	\N	\N	EFO	2	EFO	Congenital intestinal disease due to an enzymatic defect	Congenital sucrase-isomaltase deficiency with starch intolerance
Orphanet:309001	Orphanet:35122	\N	"" []	Orphanet:306436	"" []	574283	\N	\N	EFO	2	EFO	Disorder of carbohydrate absorption and transport	Congenital sucrase-isomaltase deficiency with starch intolerance
Orphanet:165655	Orphanet:104006	\N	"" []	Orphanet:306436	"" []	1157010	\N	\N	EFO	3	EFO	Genetic intestinal disease	Congenital sucrase-isomaltase deficiency with starch intolerance
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:306436	"" []	1157011	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Congenital sucrase-isomaltase deficiency with starch intolerance
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:306436	"" []	2040042	\N	\N	EFO	4	EFO	digestive system disease	Congenital sucrase-isomaltase deficiency with starch intolerance
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:306436	"" []	2040043	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Congenital sucrase-isomaltase deficiency with starch intolerance
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:306436	"" []	2040044	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital sucrase-isomaltase deficiency with starch intolerance
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306436	"" []	3190372	\N	\N	EFO	5	EFO	disease	Congenital sucrase-isomaltase deficiency with starch intolerance
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306436	"" []	3190373	\N	\N	EFO	5	EFO	genetic disorder	Congenital sucrase-isomaltase deficiency with starch intolerance
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306436	"" []	3190374	\N	\N	EFO	5	EFO	genetic disorder	Congenital sucrase-isomaltase deficiency with starch intolerance
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:306436	"" []	3190375	\N	\N	EFO	5	EFO	metabolic disease	Congenital sucrase-isomaltase deficiency with starch intolerance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306436	"" []	5414817	\N	\N	EFO	7	EFO	disposition	Congenital sucrase-isomaltase deficiency with starch intolerance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306436	"" []	4397252	\N	\N	EFO	6	EFO	disease	Congenital sucrase-isomaltase deficiency with starch intolerance
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306436	"" []	4397253	\N	\N	EFO	6	EFO	disease	Congenital sucrase-isomaltase deficiency with starch intolerance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306436	"" []	5997904	\N	\N	EFO	8	EFO	material property	Congenital sucrase-isomaltase deficiency with starch intolerance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306436	"" []	6551232	\N	\N	EFO	9	EFO	experimental factor	Congenital sucrase-isomaltase deficiency with starch intolerance
Orphanet:306446	\N	\N	"" []	Orphanet:306446	"" []	76185	\N	\N	EFO	0	EFO	Congenital sucrase-isomaltase deficiency with minimal starch tolerance	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
Orphanet:35122	Orphanet:306446	\N	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	Orphanet:306446	"" []	219060	\N	\N	EFO	1	EFO	Congenital sucrase-isomaltase deficiency	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
Orphanet:104006	Orphanet:35122	\N	"" []	Orphanet:306446	"" []	574284	\N	\N	EFO	2	EFO	Congenital intestinal disease due to an enzymatic defect	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
Orphanet:309001	Orphanet:35122	\N	"" []	Orphanet:306446	"" []	574285	\N	\N	EFO	2	EFO	Disorder of carbohydrate absorption and transport	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
Orphanet:165655	Orphanet:104006	\N	"" []	Orphanet:306446	"" []	1157012	\N	\N	EFO	3	EFO	Genetic intestinal disease	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:306446	"" []	1157013	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:306446	"" []	2040045	\N	\N	EFO	4	EFO	digestive system disease	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:306446	"" []	2040046	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:306446	"" []	2040047	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306446	"" []	3190376	\N	\N	EFO	5	EFO	disease	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306446	"" []	3190377	\N	\N	EFO	5	EFO	genetic disorder	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306446	"" []	3190378	\N	\N	EFO	5	EFO	genetic disorder	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:306446	"" []	3190379	\N	\N	EFO	5	EFO	metabolic disease	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306446	"" []	5414819	\N	\N	EFO	7	EFO	disposition	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306446	"" []	4397255	\N	\N	EFO	6	EFO	disease	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306446	"" []	4397256	\N	\N	EFO	6	EFO	disease	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306446	"" []	5997905	\N	\N	EFO	8	EFO	material property	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306446	"" []	6551233	\N	\N	EFO	9	EFO	experimental factor	Congenital sucrase-isomaltase deficiency with minimal starch tolerance
Orphanet:306462	\N	\N	"" []	Orphanet:306462	"" []	76186	\N	\N	EFO	0	EFO	Congenital sucrase-isomaltase deficiency without starch intolerance	Congenital sucrase-isomaltase deficiency without starch intolerance
Orphanet:35122	Orphanet:306462	\N	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	Orphanet:306462	"" []	219061	\N	\N	EFO	1	EFO	Congenital sucrase-isomaltase deficiency	Congenital sucrase-isomaltase deficiency without starch intolerance
Orphanet:104006	Orphanet:35122	\N	"" []	Orphanet:306462	"" []	574286	\N	\N	EFO	2	EFO	Congenital intestinal disease due to an enzymatic defect	Congenital sucrase-isomaltase deficiency without starch intolerance
Orphanet:309001	Orphanet:35122	\N	"" []	Orphanet:306462	"" []	574287	\N	\N	EFO	2	EFO	Disorder of carbohydrate absorption and transport	Congenital sucrase-isomaltase deficiency without starch intolerance
Orphanet:165655	Orphanet:104006	\N	"" []	Orphanet:306462	"" []	1157014	\N	\N	EFO	3	EFO	Genetic intestinal disease	Congenital sucrase-isomaltase deficiency without starch intolerance
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:306462	"" []	1157015	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Congenital sucrase-isomaltase deficiency without starch intolerance
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:306462	"" []	2040048	\N	\N	EFO	4	EFO	digestive system disease	Congenital sucrase-isomaltase deficiency without starch intolerance
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:306462	"" []	2040049	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Congenital sucrase-isomaltase deficiency without starch intolerance
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:306462	"" []	2040050	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital sucrase-isomaltase deficiency without starch intolerance
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306462	"" []	3190380	\N	\N	EFO	5	EFO	disease	Congenital sucrase-isomaltase deficiency without starch intolerance
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306462	"" []	3190381	\N	\N	EFO	5	EFO	genetic disorder	Congenital sucrase-isomaltase deficiency without starch intolerance
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306462	"" []	3190382	\N	\N	EFO	5	EFO	genetic disorder	Congenital sucrase-isomaltase deficiency without starch intolerance
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:306462	"" []	3190383	\N	\N	EFO	5	EFO	metabolic disease	Congenital sucrase-isomaltase deficiency without starch intolerance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306462	"" []	5414821	\N	\N	EFO	7	EFO	disposition	Congenital sucrase-isomaltase deficiency without starch intolerance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306462	"" []	4397258	\N	\N	EFO	6	EFO	disease	Congenital sucrase-isomaltase deficiency without starch intolerance
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306462	"" []	4397259	\N	\N	EFO	6	EFO	disease	Congenital sucrase-isomaltase deficiency without starch intolerance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306462	"" []	5997906	\N	\N	EFO	8	EFO	material property	Congenital sucrase-isomaltase deficiency without starch intolerance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306462	"" []	6551234	\N	\N	EFO	9	EFO	experimental factor	Congenital sucrase-isomaltase deficiency without starch intolerance
Orphanet:306474	\N	\N	"" []	Orphanet:306474	"" []	76187	\N	\N	EFO	0	EFO	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
Orphanet:35122	Orphanet:306474	\N	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	Orphanet:306474	"" []	219062	\N	\N	EFO	1	EFO	Congenital sucrase-isomaltase deficiency	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
Orphanet:104006	Orphanet:35122	\N	"" []	Orphanet:306474	"" []	574288	\N	\N	EFO	2	EFO	Congenital intestinal disease due to an enzymatic defect	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
Orphanet:309001	Orphanet:35122	\N	"" []	Orphanet:306474	"" []	574289	\N	\N	EFO	2	EFO	Disorder of carbohydrate absorption and transport	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
Orphanet:165655	Orphanet:104006	\N	"" []	Orphanet:306474	"" []	1157016	\N	\N	EFO	3	EFO	Genetic intestinal disease	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:306474	"" []	1157017	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:306474	"" []	2040051	\N	\N	EFO	4	EFO	digestive system disease	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:306474	"" []	2040052	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:306474	"" []	2040053	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306474	"" []	3190384	\N	\N	EFO	5	EFO	disease	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306474	"" []	3190385	\N	\N	EFO	5	EFO	genetic disorder	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306474	"" []	3190386	\N	\N	EFO	5	EFO	genetic disorder	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:306474	"" []	3190387	\N	\N	EFO	5	EFO	metabolic disease	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306474	"" []	5414823	\N	\N	EFO	7	EFO	disposition	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306474	"" []	4397261	\N	\N	EFO	6	EFO	disease	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306474	"" []	4397262	\N	\N	EFO	6	EFO	disease	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306474	"" []	5997907	\N	\N	EFO	8	EFO	material property	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306474	"" []	6551235	\N	\N	EFO	9	EFO	experimental factor	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
Orphanet:306486	\N	\N	"" []	Orphanet:306486	"" []	76188	\N	\N	EFO	0	EFO	Congenital sucrase-isomaltase deficiency without sucrose intolerance	Congenital sucrase-isomaltase deficiency without sucrose intolerance
Orphanet:35122	Orphanet:306486	\N	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	Orphanet:306486	"" []	219063	\N	\N	EFO	1	EFO	Congenital sucrase-isomaltase deficiency	Congenital sucrase-isomaltase deficiency without sucrose intolerance
Orphanet:104006	Orphanet:35122	\N	"" []	Orphanet:306486	"" []	574290	\N	\N	EFO	2	EFO	Congenital intestinal disease due to an enzymatic defect	Congenital sucrase-isomaltase deficiency without sucrose intolerance
Orphanet:309001	Orphanet:35122	\N	"" []	Orphanet:306486	"" []	574291	\N	\N	EFO	2	EFO	Disorder of carbohydrate absorption and transport	Congenital sucrase-isomaltase deficiency without sucrose intolerance
Orphanet:165655	Orphanet:104006	\N	"" []	Orphanet:306486	"" []	1157018	\N	\N	EFO	3	EFO	Genetic intestinal disease	Congenital sucrase-isomaltase deficiency without sucrose intolerance
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:306486	"" []	1157019	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Congenital sucrase-isomaltase deficiency without sucrose intolerance
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:306486	"" []	2040054	\N	\N	EFO	4	EFO	digestive system disease	Congenital sucrase-isomaltase deficiency without sucrose intolerance
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:306486	"" []	2040055	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Congenital sucrase-isomaltase deficiency without sucrose intolerance
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:306486	"" []	2040056	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital sucrase-isomaltase deficiency without sucrose intolerance
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306486	"" []	3190388	\N	\N	EFO	5	EFO	disease	Congenital sucrase-isomaltase deficiency without sucrose intolerance
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306486	"" []	3190389	\N	\N	EFO	5	EFO	genetic disorder	Congenital sucrase-isomaltase deficiency without sucrose intolerance
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306486	"" []	3190390	\N	\N	EFO	5	EFO	genetic disorder	Congenital sucrase-isomaltase deficiency without sucrose intolerance
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:306486	"" []	3190391	\N	\N	EFO	5	EFO	metabolic disease	Congenital sucrase-isomaltase deficiency without sucrose intolerance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306486	"" []	5414825	\N	\N	EFO	7	EFO	disposition	Congenital sucrase-isomaltase deficiency without sucrose intolerance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306486	"" []	4397264	\N	\N	EFO	6	EFO	disease	Congenital sucrase-isomaltase deficiency without sucrose intolerance
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306486	"" []	4397265	\N	\N	EFO	6	EFO	disease	Congenital sucrase-isomaltase deficiency without sucrose intolerance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306486	"" []	5997908	\N	\N	EFO	8	EFO	material property	Congenital sucrase-isomaltase deficiency without sucrose intolerance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306486	"" []	6551236	\N	\N	EFO	9	EFO	experimental factor	Congenital sucrase-isomaltase deficiency without sucrose intolerance
Orphanet:306498	\N	\N	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	Orphanet:306498	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	76189	\N	\N	EFO	0	EFO	PTEN hamartoma tumor syndrome	PTEN hamartoma tumor syndrome
Orphanet:183422	Orphanet:306498	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:306498	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	219064	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	PTEN hamartoma tumor syndrome
Orphanet:98196	Orphanet:306498	\N	"" []	Orphanet:306498	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	219065	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	PTEN hamartoma tumor syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:306498	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	574292	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	PTEN hamartoma tumor syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:306498	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	574293	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	PTEN hamartoma tumor syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306498	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	1157020	\N	\N	EFO	3	EFO	genetic disorder	PTEN hamartoma tumor syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306498	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	1157021	\N	\N	EFO	3	EFO	genetic disorder	PTEN hamartoma tumor syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306498	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	2040057	\N	\N	EFO	4	EFO	disease	PTEN hamartoma tumor syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306498	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	3190392	\N	\N	EFO	5	EFO	disposition	PTEN hamartoma tumor syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306498	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	4397266	\N	\N	EFO	6	EFO	material property	PTEN hamartoma tumor syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306498	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	5414826	\N	\N	EFO	7	EFO	experimental factor	PTEN hamartoma tumor syndrome
Orphanet:306504	\N	\N	"" []	Orphanet:306504	"" []	76190	\N	\N	EFO	0	EFO	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Orphanet:264992	Orphanet:306504	\N	"" []	Orphanet:306504	"" []	219066	\N	\N	EFO	1	EFO	Genetic interstitial lung disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Orphanet:305	Orphanet:306504	\N	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	Orphanet:306504	"" []	219067	\N	\N	EFO	1	EFO	Junctional epidermolysis bullosa	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Orphanet:93550	Orphanet:306504	\N	"" []	Orphanet:306504	"" []	219068	\N	\N	EFO	1	EFO	Basement membrane disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Orphanet:156610	Orphanet:264992	\N	"" []	Orphanet:306504	"" []	574294	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:1000690	Orphanet:305	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	Orphanet:306504	"" []	574295	\N	\N	EFO	2	EFO	epidermolysis bullosa	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Orphanet:139027	Orphanet:305	\N	"" []	Orphanet:306504	"" []	574296	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Orphanet:79361	Orphanet:305	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:306504	"" []	574297	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Orphanet:183586	Orphanet:93550	\N	"" []	Orphanet:306504	"" []	574298	\N	\N	EFO	2	EFO	Genetic glomerular disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306504	"" []	1157022	\N	\N	EFO	3	EFO	genetic disorder	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:306504	"" []	1157023	\N	\N	EFO	3	EFO	respiratory system disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	Orphanet:306504	"" []	1157024	\N	\N	EFO	3	EFO	vesiculobullous skin disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:306504	"" []	1157025	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:306504	"" []	1157026	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:306504	"" []	1157027	\N	\N	EFO	3	EFO	Rare genetic renal disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306504	"" []	4397268	\N	\N	EFO	6	EFO	disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306504	"" []	2040059	\N	\N	EFO	4	EFO	disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:306504	"" []	2040060	\N	\N	EFO	4	EFO	skin disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306504	"" []	2040061	\N	\N	EFO	4	EFO	genetic disorder	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:306504	"" []	2040062	\N	\N	EFO	4	EFO	Rare genetic skin disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306504	"" []	2040063	\N	\N	EFO	4	EFO	genetic disorder	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306504	"" []	5059954	\N	\N	EFO	7	EFO	disposition	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306504	"" []	4397269	\N	\N	EFO	6	EFO	disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306504	"" []	3190396	\N	\N	EFO	5	EFO	genetic disorder	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:306504	"" []	3190397	\N	\N	EFO	5	EFO	skin disease	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306504	"" []	5877279	\N	\N	EFO	8	EFO	material property	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306504	"" []	6470506	\N	\N	EFO	9	EFO	experimental factor	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Orphanet:306507	\N	\N	"" []	Orphanet:306507	"" []	76191	\N	\N	EFO	0	EFO	LAMB2-related infantile-onset nephrotic syndrome	LAMB2-related infantile-onset nephrotic syndrome
Orphanet:97556	Orphanet:306507	\N	"" []	Orphanet:306507	"" []	219069	\N	\N	EFO	1	EFO	Congenital and infantile nephrotic syndrome	LAMB2-related infantile-onset nephrotic syndrome
Orphanet:102373	Orphanet:97556	\N	"" []	Orphanet:306507	"" []	574299	\N	\N	EFO	2	EFO	Primary glomerular disease	LAMB2-related infantile-onset nephrotic syndrome
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:306507	"" []	1157028	\N	\N	EFO	3	EFO	Genetic glomerular disease	LAMB2-related infantile-onset nephrotic syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:306507	"" []	2040064	\N	\N	EFO	4	EFO	Rare genetic renal disease	LAMB2-related infantile-onset nephrotic syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306507	"" []	3190398	\N	\N	EFO	5	EFO	genetic disorder	LAMB2-related infantile-onset nephrotic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306507	"" []	4397270	\N	\N	EFO	6	EFO	disease	LAMB2-related infantile-onset nephrotic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306507	"" []	5414828	\N	\N	EFO	7	EFO	disposition	LAMB2-related infantile-onset nephrotic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306507	"" []	6150967	\N	\N	EFO	8	EFO	material property	LAMB2-related infantile-onset nephrotic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306507	"" []	6633460	\N	\N	EFO	9	EFO	experimental factor	LAMB2-related infantile-onset nephrotic syndrome
Orphanet:306511	\N	\N	"" []	Orphanet:306511	"" []	76192	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 48	Autosomal recessive spastic paraplegia type 48
Orphanet:320346	Orphanet:306511	\N	"" []	Orphanet:306511	"" []	219070	\N	\N	EFO	1	EFO	Pure or complex autosomal recessive spastic paraplegia	Autosomal recessive spastic paraplegia type 48
Orphanet:320335	Orphanet:320346	\N	"" []	Orphanet:306511	"" []	574300	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 48
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:306511	"" []	1157029	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 48
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:306511	"" []	2040065	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 48
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:306511	"" []	3190399	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 48
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:306511	"" []	3190400	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 48
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:306511	"" []	3190401	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 48
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306511	"" []	4397271	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 48
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306511	"" []	4397272	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 48
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306511	"" []	4397273	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 48
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306511	"" []	5414829	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 48
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306511	"" []	5414830	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 48
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306511	"" []	6150968	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 48
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306511	"" []	6633461	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 48
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306511	"" []	6926014	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 48
Orphanet:306516	\N	\N	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	76193	\N	\N	EFO	0	EFO	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Orphanet:34526	Orphanet:306516	\N	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	219071	\N	\N	EFO	1	EFO	Familial primary hypomagnesemia	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Orphanet:183592	Orphanet:34526	\N	"" []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	574301	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Orphanet:309848	Orphanet:34526	\N	"" []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	574302	\N	\N	EFO	2	EFO	Disorder of magnesium transport	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	1157030	\N	\N	EFO	3	EFO	Rare genetic renal disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Orphanet:309836	Orphanet:309848	\N	"" []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	1157031	\N	\N	EFO	3	EFO	Disorder of mineral absorption and transport	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	2040066	\N	\N	EFO	4	EFO	genetic disorder	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	2040067	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	5414832	\N	\N	EFO	7	EFO	disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	3190403	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	5877280	\N	\N	EFO	8	EFO	disposition	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	4397275	\N	\N	EFO	6	EFO	genetic disorder	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	4397276	\N	\N	EFO	6	EFO	metabolic disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	6470507	\N	\N	EFO	9	EFO	material property	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	5414833	\N	\N	EFO	7	EFO	disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306516	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	6848570	\N	\N	EFO	10	EFO	experimental factor	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Orphanet:306519	\N	\N	"" []	Orphanet:306519	"" []	76194	\N	\N	EFO	0	EFO	Familial primary hypomagnesemia with hypocalcuria	Familial primary hypomagnesemia with hypocalcuria
Orphanet:34526	Orphanet:306519	\N	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	Orphanet:306519	"" []	219072	\N	\N	EFO	1	EFO	Familial primary hypomagnesemia	Familial primary hypomagnesemia with hypocalcuria
Orphanet:183592	Orphanet:34526	\N	"" []	Orphanet:306519	"" []	574303	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Familial primary hypomagnesemia with hypocalcuria
Orphanet:309848	Orphanet:34526	\N	"" []	Orphanet:306519	"" []	574304	\N	\N	EFO	2	EFO	Disorder of magnesium transport	Familial primary hypomagnesemia with hypocalcuria
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:306519	"" []	1157032	\N	\N	EFO	3	EFO	Rare genetic renal disease	Familial primary hypomagnesemia with hypocalcuria
Orphanet:309836	Orphanet:309848	\N	"" []	Orphanet:306519	"" []	1157033	\N	\N	EFO	3	EFO	Disorder of mineral absorption and transport	Familial primary hypomagnesemia with hypocalcuria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306519	"" []	2040068	\N	\N	EFO	4	EFO	genetic disorder	Familial primary hypomagnesemia with hypocalcuria
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:306519	"" []	2040069	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Familial primary hypomagnesemia with hypocalcuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306519	"" []	5414835	\N	\N	EFO	7	EFO	disease	Familial primary hypomagnesemia with hypocalcuria
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:306519	"" []	3190405	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Familial primary hypomagnesemia with hypocalcuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306519	"" []	5877281	\N	\N	EFO	8	EFO	disposition	Familial primary hypomagnesemia with hypocalcuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306519	"" []	4397278	\N	\N	EFO	6	EFO	genetic disorder	Familial primary hypomagnesemia with hypocalcuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:306519	"" []	4397279	\N	\N	EFO	6	EFO	metabolic disease	Familial primary hypomagnesemia with hypocalcuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306519	"" []	6470508	\N	\N	EFO	9	EFO	material property	Familial primary hypomagnesemia with hypocalcuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306519	"" []	5414836	\N	\N	EFO	7	EFO	disease	Familial primary hypomagnesemia with hypocalcuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306519	"" []	6848571	\N	\N	EFO	10	EFO	experimental factor	Familial primary hypomagnesemia with hypocalcuria
Orphanet:306522	\N	\N	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	76195	\N	\N	EFO	0	EFO	Familial primary hypomagnesemia with normocalcuria	Familial primary hypomagnesemia with normocalcuria
Orphanet:34526	Orphanet:306522	\N	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	219073	\N	\N	EFO	1	EFO	Familial primary hypomagnesemia	Familial primary hypomagnesemia with normocalcuria
Orphanet:183592	Orphanet:34526	\N	"" []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	574305	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Familial primary hypomagnesemia with normocalcuria
Orphanet:309848	Orphanet:34526	\N	"" []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	574306	\N	\N	EFO	2	EFO	Disorder of magnesium transport	Familial primary hypomagnesemia with normocalcuria
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	1157034	\N	\N	EFO	3	EFO	Rare genetic renal disease	Familial primary hypomagnesemia with normocalcuria
Orphanet:309836	Orphanet:309848	\N	"" []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	1157035	\N	\N	EFO	3	EFO	Disorder of mineral absorption and transport	Familial primary hypomagnesemia with normocalcuria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	2040070	\N	\N	EFO	4	EFO	genetic disorder	Familial primary hypomagnesemia with normocalcuria
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	2040071	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Familial primary hypomagnesemia with normocalcuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	5414838	\N	\N	EFO	7	EFO	disease	Familial primary hypomagnesemia with normocalcuria
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	3190407	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Familial primary hypomagnesemia with normocalcuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	5877282	\N	\N	EFO	8	EFO	disposition	Familial primary hypomagnesemia with normocalcuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	4397281	\N	\N	EFO	6	EFO	genetic disorder	Familial primary hypomagnesemia with normocalcuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	4397282	\N	\N	EFO	6	EFO	metabolic disease	Familial primary hypomagnesemia with normocalcuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	6470509	\N	\N	EFO	9	EFO	material property	Familial primary hypomagnesemia with normocalcuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	5414839	\N	\N	EFO	7	EFO	disease	Familial primary hypomagnesemia with normocalcuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306522	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	6848572	\N	\N	EFO	10	EFO	experimental factor	Familial primary hypomagnesemia with normocalcuria
Orphanet:306527	\N	\N	"" []	Orphanet:306527	"" []	76196	\N	\N	EFO	0	EFO	Isolated hereditary congenital facial paralysis	Isolated hereditary congenital facial paralysis
Orphanet:156224	Orphanet:306527	\N	"" []	Orphanet:306527	"" []	219074	\N	\N	EFO	1	EFO	Paralytic facial malformation	Isolated hereditary congenital facial paralysis
Orphanet:98518	Orphanet:306527	\N	"" []	Orphanet:306527	"" []	219075	\N	\N	EFO	1	EFO	Cranial nerve and nuclear aplasia	Isolated hereditary congenital facial paralysis
Orphanet:183583	Orphanet:156224	\N	"" []	Orphanet:306527	"" []	574307	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Isolated hereditary congenital facial paralysis
Orphanet:269550	Orphanet:98518	\N	"" []	Orphanet:306527	"" []	574308	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Isolated hereditary congenital facial paralysis
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:306527	"" []	1157036	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Isolated hereditary congenital facial paralysis
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:306527	"" []	1157037	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Isolated hereditary congenital facial paralysis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306527	"" []	3190409	\N	\N	EFO	5	EFO	genetic disorder	Isolated hereditary congenital facial paralysis
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:306527	"" []	2040073	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated hereditary congenital facial paralysis
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:306527	"" []	2040074	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Isolated hereditary congenital facial paralysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306527	"" []	4133831	\N	\N	EFO	6	EFO	disease	Isolated hereditary congenital facial paralysis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306527	"" []	3190410	\N	\N	EFO	5	EFO	genetic disorder	Isolated hereditary congenital facial paralysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306527	"" []	5182540	\N	\N	EFO	7	EFO	disposition	Isolated hereditary congenital facial paralysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306527	"" []	5997910	\N	\N	EFO	8	EFO	material property	Isolated hereditary congenital facial paralysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306527	"" []	6551237	\N	\N	EFO	9	EFO	experimental factor	Isolated hereditary congenital facial paralysis
Orphanet:306530	\N	\N	"" []	Orphanet:306530	"" []	76197	\N	\N	EFO	0	EFO	Congenital hereditary facial paralysis with variable hearing loss	Congenital hereditary facial paralysis with variable hearing loss
Orphanet:156224	Orphanet:306530	\N	"" []	Orphanet:306530	"" []	219076	\N	\N	EFO	1	EFO	Paralytic facial malformation	Congenital hereditary facial paralysis with variable hearing loss
Orphanet:98518	Orphanet:306530	\N	"" []	Orphanet:306530	"" []	219077	\N	\N	EFO	1	EFO	Cranial nerve and nuclear aplasia	Congenital hereditary facial paralysis with variable hearing loss
Orphanet:183583	Orphanet:156224	\N	"" []	Orphanet:306530	"" []	574309	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Congenital hereditary facial paralysis with variable hearing loss
Orphanet:269550	Orphanet:98518	\N	"" []	Orphanet:306530	"" []	574310	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Congenital hereditary facial paralysis with variable hearing loss
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:306530	"" []	1157038	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital hereditary facial paralysis with variable hearing loss
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:306530	"" []	1157039	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Congenital hereditary facial paralysis with variable hearing loss
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306530	"" []	3190412	\N	\N	EFO	5	EFO	genetic disorder	Congenital hereditary facial paralysis with variable hearing loss
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:306530	"" []	2040076	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital hereditary facial paralysis with variable hearing loss
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:306530	"" []	2040077	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital hereditary facial paralysis with variable hearing loss
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306530	"" []	4133832	\N	\N	EFO	6	EFO	disease	Congenital hereditary facial paralysis with variable hearing loss
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306530	"" []	3190413	\N	\N	EFO	5	EFO	genetic disorder	Congenital hereditary facial paralysis with variable hearing loss
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306530	"" []	5182541	\N	\N	EFO	7	EFO	disposition	Congenital hereditary facial paralysis with variable hearing loss
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306530	"" []	5997911	\N	\N	EFO	8	EFO	material property	Congenital hereditary facial paralysis with variable hearing loss
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306530	"" []	6551238	\N	\N	EFO	9	EFO	experimental factor	Congenital hereditary facial paralysis with variable hearing loss
Orphanet:306539	\N	\N	"" []	Orphanet:306539	"" []	76198	\N	\N	EFO	0	EFO	Hereditary acrokeratotic poikiloderma of Kindler-Weary	Hereditary acrokeratotic poikiloderma of Kindler-Weary
Orphanet:183490	Orphanet:306539	\N	"" []	Orphanet:306539	"" []	219078	\N	\N	EFO	1	EFO	Genetic photodermatosis	Hereditary acrokeratotic poikiloderma of Kindler-Weary
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:306539	"" []	574311	\N	\N	EFO	2	EFO	Rare genetic skin disease	Hereditary acrokeratotic poikiloderma of Kindler-Weary
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306539	"" []	1157040	\N	\N	EFO	3	EFO	genetic disorder	Hereditary acrokeratotic poikiloderma of Kindler-Weary
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:306539	"" []	1157041	\N	\N	EFO	3	EFO	skin disease	Hereditary acrokeratotic poikiloderma of Kindler-Weary
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306539	"" []	2040078	\N	\N	EFO	4	EFO	disease	Hereditary acrokeratotic poikiloderma of Kindler-Weary
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306539	"" []	2040079	\N	\N	EFO	4	EFO	disease	Hereditary acrokeratotic poikiloderma of Kindler-Weary
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306539	"" []	3190414	\N	\N	EFO	5	EFO	disposition	Hereditary acrokeratotic poikiloderma of Kindler-Weary
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306539	"" []	4397285	\N	\N	EFO	6	EFO	material property	Hereditary acrokeratotic poikiloderma of Kindler-Weary
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306539	"" []	5414842	\N	\N	EFO	7	EFO	experimental factor	Hereditary acrokeratotic poikiloderma of Kindler-Weary
Orphanet:306542	\N	\N	"" []	Orphanet:306542	"" []	76199	\N	\N	EFO	0	EFO	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:139039	Orphanet:306542	\N	"" []	Orphanet:306542	"" []	219079	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:183576	Orphanet:306542	\N	"" []	Orphanet:306542	"" []	219080	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:250	Orphanet:306542	\N	"" []	Orphanet:306542	"" []	219081	\N	\N	EFO	1	EFO	Frontonasal dysplasia	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:306542	"" []	574312	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:306542	"" []	574313	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:93453	Orphanet:250	\N	"" []	Orphanet:306542	"" []	574314	\N	\N	EFO	2	EFO	Dysostosis with predominant craniofacial involvement	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:306542	"" []	1157042	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306542	"" []	4397286	\N	\N	EFO	6	EFO	genetic disorder	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:306542	"" []	1157044	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:306542	"" []	2040080	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306542	"" []	5028437	\N	\N	EFO	7	EFO	disease	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:306542	"" []	2040082	\N	\N	EFO	4	EFO	Rare genetic bone disease	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:306542	"" []	2040083	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:306542	"" []	3190415	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306542	"" []	5817693	\N	\N	EFO	8	EFO	disposition	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306542	"" []	3190417	\N	\N	EFO	5	EFO	genetic disorder	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:306542	"" []	3190418	\N	\N	EFO	5	EFO	bone disease	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:306542	"" []	3190419	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306542	"" []	6410113	\N	\N	EFO	9	EFO	material property	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:306542	"" []	4397289	\N	\N	EFO	6	EFO	skeletal system disease	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306542	"" []	6807951	\N	\N	EFO	10	EFO	experimental factor	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306542	"" []	5414844	\N	\N	EFO	7	EFO	disease	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Orphanet:306547	\N	\N	"" []	Orphanet:306547	"" []	76200	\N	\N	EFO	0	EFO	Porencephaly-microcephaly-bilateral congenital cataract syndrome	Porencephaly-microcephaly-bilateral congenital cataract syndrome
Orphanet:269564	Orphanet:306547	\N	"" []	Orphanet:306547	"" []	219082	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Porencephaly-microcephaly-bilateral congenital cataract syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:306547	"" []	574315	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Porencephaly-microcephaly-bilateral congenital cataract syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:306547	"" []	1157045	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Porencephaly-microcephaly-bilateral congenital cataract syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:306547	"" []	1157046	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Porencephaly-microcephaly-bilateral congenital cataract syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306547	"" []	2040084	\N	\N	EFO	4	EFO	genetic disorder	Porencephaly-microcephaly-bilateral congenital cataract syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306547	"" []	2040085	\N	\N	EFO	4	EFO	genetic disorder	Porencephaly-microcephaly-bilateral congenital cataract syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306547	"" []	3190420	\N	\N	EFO	5	EFO	disease	Porencephaly-microcephaly-bilateral congenital cataract syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306547	"" []	4397290	\N	\N	EFO	6	EFO	disposition	Porencephaly-microcephaly-bilateral congenital cataract syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306547	"" []	5414845	\N	\N	EFO	7	EFO	material property	Porencephaly-microcephaly-bilateral congenital cataract syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306547	"" []	6150974	\N	\N	EFO	8	EFO	experimental factor	Porencephaly-microcephaly-bilateral congenital cataract syndrome
Orphanet:306550	\N	\N	"" []	Orphanet:306550	"" []	76201	\N	\N	EFO	0	EFO	FADD-related immunodeficiency	FADD-related immunodeficiency
Orphanet:169355	Orphanet:306550	\N	"" []	Orphanet:306550	"" []	219083	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with autoimmunity	FADD-related immunodeficiency
Orphanet:169361	Orphanet:169355	\N	"" []	Orphanet:306550	"" []	574316	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	FADD-related immunodeficiency
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:306550	"" []	1157047	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	FADD-related immunodeficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:306550	"" []	2040086	\N	\N	EFO	4	EFO	Primary immunodeficiency	FADD-related immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:306550	"" []	3190421	\N	\N	EFO	5	EFO	Rare genetic immune disease	FADD-related immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306550	"" []	4397291	\N	\N	EFO	6	EFO	genetic disorder	FADD-related immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:306550	"" []	4397292	\N	\N	EFO	6	EFO	immune system disease	FADD-related immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306550	"" []	5414846	\N	\N	EFO	7	EFO	disease	FADD-related immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306550	"" []	5414847	\N	\N	EFO	7	EFO	disease	FADD-related immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306550	"" []	6150975	\N	\N	EFO	8	EFO	disposition	FADD-related immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306550	"" []	6633462	\N	\N	EFO	9	EFO	material property	FADD-related immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306550	"" []	6926015	\N	\N	EFO	10	EFO	experimental factor	FADD-related immunodeficiency
Orphanet:306558	\N	\N	"" []	Orphanet:306558	"" []	76202	\N	\N	EFO	0	EFO	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Orphanet:166478	Orphanet:306558	\N	"" []	Orphanet:306558	"" []	219084	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Orphanet:183625	Orphanet:306558	\N	"" []	Orphanet:306558	"" []	219085	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Orphanet:269528	Orphanet:306558	\N	"" []	Orphanet:306558	"" []	219086	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:306558	"" []	574317	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:306558	"" []	574318	\N	\N	EFO	2	EFO	diabetes mellitus	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:306558	"" []	574319	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:306558	"" []	574320	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:306558	"" []	1157048	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:306558	"" []	1157049	\N	\N	EFO	3	EFO	metabolic disease	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306558	"" []	1157050	\N	\N	EFO	3	EFO	genetic disorder	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:306558	"" []	1157051	\N	\N	EFO	3	EFO	endocrine system disease	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:306558	"" []	1157052	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306558	"" []	3190425	\N	\N	EFO	5	EFO	genetic disorder	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306558	"" []	2040088	\N	\N	EFO	4	EFO	disease	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306558	"" []	4133833	\N	\N	EFO	6	EFO	disease	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306558	"" []	2040090	\N	\N	EFO	4	EFO	disease	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:306558	"" []	2040091	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:306558	"" []	2040092	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306558	"" []	5059956	\N	\N	EFO	7	EFO	disposition	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306558	"" []	3190424	\N	\N	EFO	5	EFO	genetic disorder	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306558	"" []	5877284	\N	\N	EFO	8	EFO	material property	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306558	"" []	6470511	\N	\N	EFO	9	EFO	experimental factor	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Orphanet:306561	\N	\N	"" []	Orphanet:306561	"" []	76203	\N	\N	EFO	0	EFO	Autosomal dominant childhood-onset cortical cataract	Autosomal dominant childhood-onset cortical cataract
Orphanet:217052	Orphanet:306561	\N	"" []	Orphanet:306561	"" []	219087	\N	\N	EFO	1	EFO	Early-onset non-syndromic cataract	Autosomal dominant childhood-onset cortical cataract
Orphanet:217049	Orphanet:217052	\N	"" []	Orphanet:306561	"" []	574321	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Autosomal dominant childhood-onset cortical cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:306561	"" []	1157053	\N	\N	EFO	3	EFO	Rare cataract	Autosomal dominant childhood-onset cortical cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:306561	"" []	2040093	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Autosomal dominant childhood-onset cortical cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:306561	"" []	3190426	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal dominant childhood-onset cortical cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306561	"" []	4397294	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant childhood-onset cortical cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:306561	"" []	4397295	\N	\N	EFO	6	EFO	eye disease	Autosomal dominant childhood-onset cortical cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306561	"" []	5414849	\N	\N	EFO	7	EFO	disease	Autosomal dominant childhood-onset cortical cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306561	"" []	5414850	\N	\N	EFO	7	EFO	disease	Autosomal dominant childhood-onset cortical cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306561	"" []	6150976	\N	\N	EFO	8	EFO	disposition	Autosomal dominant childhood-onset cortical cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306561	"" []	6633463	\N	\N	EFO	9	EFO	material property	Autosomal dominant childhood-onset cortical cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306561	"" []	6926016	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant childhood-onset cortical cataract
Orphanet:306577	\N	\N	"" []	Orphanet:306577	"" []	76204	\N	\N	EFO	0	EFO	Sodium channelopathy-related small fiber neuropathy	Sodium channelopathy-related small fiber neuropathy
Orphanet:98497	Orphanet:306577	\N	"" []	Orphanet:306577	"" []	219088	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Sodium channelopathy-related small fiber neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:306577	"" []	574322	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Sodium channelopathy-related small fiber neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306577	"" []	1157054	\N	\N	EFO	3	EFO	genetic disorder	Sodium channelopathy-related small fiber neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306577	"" []	2040094	\N	\N	EFO	4	EFO	disease	Sodium channelopathy-related small fiber neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306577	"" []	3190427	\N	\N	EFO	5	EFO	disposition	Sodium channelopathy-related small fiber neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306577	"" []	4397296	\N	\N	EFO	6	EFO	material property	Sodium channelopathy-related small fiber neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306577	"" []	5414851	\N	\N	EFO	7	EFO	experimental factor	Sodium channelopathy-related small fiber neuropathy
Orphanet:306588	\N	\N	"" []	Orphanet:306588	"" []	76205	\N	\N	EFO	0	EFO	Autosomal dominant Opitz G/BBB syndrome	Autosomal dominant Opitz G/BBB syndrome
Orphanet:2745	Orphanet:306588	\N	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	Orphanet:306588	"" []	219089	\N	\N	EFO	1	EFO	Opitz G/BBB syndrome	Autosomal dominant Opitz G/BBB syndrome
Orphanet:102283	Orphanet:2745	\N	"" []	Orphanet:306588	"" []	574323	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Autosomal dominant Opitz G/BBB syndrome
Orphanet:117573	Orphanet:2745	\N	"" []	Orphanet:306588	"" []	574324	\N	\N	EFO	2	EFO	Syndromic anorectal malformation	Autosomal dominant Opitz G/BBB syndrome
Orphanet:165707	Orphanet:2745	\N	"" []	Orphanet:306588	"" []	574325	\N	\N	EFO	2	EFO	Syndromic urogenital tract malformation	Autosomal dominant Opitz G/BBB syndrome
Orphanet:98464	Orphanet:2745	\N	"" []	Orphanet:306588	"" []	574326	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Autosomal dominant Opitz G/BBB syndrome
Orphanet:98575	Orphanet:2745	\N	"" []	Orphanet:306588	"" []	574327	\N	\N	EFO	2	EFO	Telecanthus	Autosomal dominant Opitz G/BBB syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:306588	"" []	1157055	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Autosomal dominant Opitz G/BBB syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:306588	"" []	1157056	\N	\N	EFO	3	EFO	Anorectal malformation	Autosomal dominant Opitz G/BBB syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:306588	"" []	1157057	\N	\N	EFO	3	EFO	Genetic urogenital tract malformation	Autosomal dominant Opitz G/BBB syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:306588	"" []	1157058	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal dominant Opitz G/BBB syndrome
Orphanet:98572	Orphanet:98575	\N	"" []	Orphanet:306588	"" []	1157059	\N	\N	EFO	3	EFO	Canthal anomaly	Autosomal dominant Opitz G/BBB syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:306588	"" []	2040095	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant Opitz G/BBB syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:306588	"" []	2040096	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	Autosomal dominant Opitz G/BBB syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:306588	"" []	2040097	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Autosomal dominant Opitz G/BBB syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:306588	"" []	2040098	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Autosomal dominant Opitz G/BBB syndrome
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:306588	"" []	2040099	\N	\N	EFO	4	EFO	Rare palpebral disease	Autosomal dominant Opitz G/BBB syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306588	"" []	4397298	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Opitz G/BBB syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:306588	"" []	3190429	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant Opitz G/BBB syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306588	"" []	3190430	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant Opitz G/BBB syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:306588	"" []	3190431	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Opitz G/BBB syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:306588	"" []	3190432	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Autosomal dominant Opitz G/BBB syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306588	"" []	6150978	\N	\N	EFO	8	EFO	disease	Autosomal dominant Opitz G/BBB syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306588	"" []	4397299	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Opitz G/BBB syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:306588	"" []	4397300	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal dominant Opitz G/BBB syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306588	"" []	6470512	\N	\N	EFO	9	EFO	disposition	Autosomal dominant Opitz G/BBB syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306588	"" []	5414853	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant Opitz G/BBB syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:306588	"" []	5414854	\N	\N	EFO	7	EFO	eye disease	Autosomal dominant Opitz G/BBB syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306588	"" []	6848573	\N	\N	EFO	10	EFO	material property	Autosomal dominant Opitz G/BBB syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306588	"" []	6150979	\N	\N	EFO	8	EFO	disease	Autosomal dominant Opitz G/BBB syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306588	"" []	7068471	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant Opitz G/BBB syndrome
Orphanet:306597	\N	\N	"" []	Orphanet:306597	"" []	76206	\N	\N	EFO	0	EFO	X-linked Opitz G/BBB syndrome	X-linked Opitz G/BBB syndrome
Orphanet:2745	Orphanet:306597	\N	"Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." []	Orphanet:306597	"" []	219090	\N	\N	EFO	1	EFO	Opitz G/BBB syndrome	X-linked Opitz G/BBB syndrome
Orphanet:102283	Orphanet:2745	\N	"" []	Orphanet:306597	"" []	574328	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked Opitz G/BBB syndrome
Orphanet:117573	Orphanet:2745	\N	"" []	Orphanet:306597	"" []	574329	\N	\N	EFO	2	EFO	Syndromic anorectal malformation	X-linked Opitz G/BBB syndrome
Orphanet:165707	Orphanet:2745	\N	"" []	Orphanet:306597	"" []	574330	\N	\N	EFO	2	EFO	Syndromic urogenital tract malformation	X-linked Opitz G/BBB syndrome
Orphanet:98464	Orphanet:2745	\N	"" []	Orphanet:306597	"" []	574331	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked Opitz G/BBB syndrome
Orphanet:98575	Orphanet:2745	\N	"" []	Orphanet:306597	"" []	574332	\N	\N	EFO	2	EFO	Telecanthus	X-linked Opitz G/BBB syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:306597	"" []	1157060	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked Opitz G/BBB syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:306597	"" []	1157061	\N	\N	EFO	3	EFO	Anorectal malformation	X-linked Opitz G/BBB syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:306597	"" []	1157062	\N	\N	EFO	3	EFO	Genetic urogenital tract malformation	X-linked Opitz G/BBB syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:306597	"" []	1157063	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked Opitz G/BBB syndrome
Orphanet:98572	Orphanet:98575	\N	"" []	Orphanet:306597	"" []	1157064	\N	\N	EFO	3	EFO	Canthal anomaly	X-linked Opitz G/BBB syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:306597	"" []	2040100	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked Opitz G/BBB syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:306597	"" []	2040101	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	X-linked Opitz G/BBB syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:306597	"" []	2040102	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	X-linked Opitz G/BBB syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:306597	"" []	2040103	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked Opitz G/BBB syndrome
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:306597	"" []	2040104	\N	\N	EFO	4	EFO	Rare palpebral disease	X-linked Opitz G/BBB syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306597	"" []	4397302	\N	\N	EFO	6	EFO	genetic disorder	X-linked Opitz G/BBB syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:306597	"" []	3190434	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked Opitz G/BBB syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306597	"" []	3190435	\N	\N	EFO	5	EFO	genetic disorder	X-linked Opitz G/BBB syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:306597	"" []	3190436	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked Opitz G/BBB syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:306597	"" []	3190437	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	X-linked Opitz G/BBB syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306597	"" []	6150981	\N	\N	EFO	8	EFO	disease	X-linked Opitz G/BBB syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306597	"" []	4397303	\N	\N	EFO	6	EFO	genetic disorder	X-linked Opitz G/BBB syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:306597	"" []	4397304	\N	\N	EFO	6	EFO	Rare genetic eye disease	X-linked Opitz G/BBB syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306597	"" []	6470513	\N	\N	EFO	9	EFO	disposition	X-linked Opitz G/BBB syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306597	"" []	5414856	\N	\N	EFO	7	EFO	genetic disorder	X-linked Opitz G/BBB syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:306597	"" []	5414857	\N	\N	EFO	7	EFO	eye disease	X-linked Opitz G/BBB syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306597	"" []	6848574	\N	\N	EFO	10	EFO	material property	X-linked Opitz G/BBB syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306597	"" []	6150982	\N	\N	EFO	8	EFO	disease	X-linked Opitz G/BBB syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306597	"" []	7068472	\N	\N	EFO	11	EFO	experimental factor	X-linked Opitz G/BBB syndrome
Orphanet:306617	\N	\N	"" []	Orphanet:306617	"" []	76207	\N	\N	EFO	0	EFO	X-linked complicated spastic paraplegia type 1	X-linked complicated spastic paraplegia type 1
Orphanet:275543	Orphanet:306617	\N	"L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." []	Orphanet:306617	"" []	219091	\N	\N	EFO	1	EFO	L1 syndrome	X-linked complicated spastic paraplegia type 1
Orphanet:269573	Orphanet:275543	\N	"" []	Orphanet:306617	"" []	574333	\N	\N	EFO	2	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	X-linked complicated spastic paraplegia type 1
Orphanet:98464	Orphanet:275543	\N	"" []	Orphanet:306617	"" []	574334	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked complicated spastic paraplegia type 1
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:306617	"" []	1157065	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	X-linked complicated spastic paraplegia type 1
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:306617	"" []	1157066	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked complicated spastic paraplegia type 1
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:306617	"" []	2040105	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	X-linked complicated spastic paraplegia type 1
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:306617	"" []	2040106	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked complicated spastic paraplegia type 1
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:306617	"" []	3190438	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked complicated spastic paraplegia type 1
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:306617	"" []	3190439	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked complicated spastic paraplegia type 1
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:306617	"" []	3190440	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked complicated spastic paraplegia type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306617	"" []	4397305	\N	\N	EFO	6	EFO	genetic disorder	X-linked complicated spastic paraplegia type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306617	"" []	4397306	\N	\N	EFO	6	EFO	genetic disorder	X-linked complicated spastic paraplegia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306617	"" []	5414858	\N	\N	EFO	7	EFO	disease	X-linked complicated spastic paraplegia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306617	"" []	6150983	\N	\N	EFO	8	EFO	disposition	X-linked complicated spastic paraplegia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306617	"" []	6633466	\N	\N	EFO	9	EFO	material property	X-linked complicated spastic paraplegia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306617	"" []	6926017	\N	\N	EFO	10	EFO	experimental factor	X-linked complicated spastic paraplegia type 1
Orphanet:306658	\N	\N	"" []	Orphanet:306658	"" []	76208	\N	\N	EFO	0	EFO	Normocalcemic tumoral calcinosis	Normocalcemic tumoral calcinosis
Orphanet:53715	Orphanet:306658	\N	"" []	Orphanet:306658	"" []	219092	\N	\N	EFO	1	EFO	Tumoral calcinosis	Normocalcemic tumoral calcinosis
EFO:0003769	Orphanet:53715	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:306658	"" []	574335	\N	\N	EFO	2	EFO	endocrine neoplasm	Normocalcemic tumoral calcinosis
EFO:0005769	Orphanet:53715	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:306658	"" []	574336	\N	\N	EFO	2	EFO	calcium metabolic disease	Normocalcemic tumoral calcinosis
Orphanet:183487	Orphanet:53715	\N	"" []	Orphanet:306658	"" []	574337	\N	\N	EFO	2	EFO	Genetic skin tumor	Normocalcemic tumoral calcinosis
Orphanet:183634	Orphanet:53715	\N	"" []	Orphanet:306658	"" []	574338	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Normocalcemic tumoral calcinosis
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:306658	"" []	1157067	\N	\N	EFO	3	EFO	neoplasm	Normocalcemic tumoral calcinosis
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:306658	"" []	1157068	\N	\N	EFO	3	EFO	endocrine system disease	Normocalcemic tumoral calcinosis
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:306658	"" []	1157069	\N	\N	EFO	3	EFO	metabolic disease	Normocalcemic tumoral calcinosis
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:306658	"" []	1157070	\N	\N	EFO	3	EFO	skin neoplasm	Normocalcemic tumoral calcinosis
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:306658	"" []	1157071	\N	\N	EFO	3	EFO	Rare genetic tumor	Normocalcemic tumoral calcinosis
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:306658	"" []	1157072	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Normocalcemic tumoral calcinosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306658	"" []	3190442	\N	\N	EFO	5	EFO	disease	Normocalcemic tumoral calcinosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306658	"" []	3190445	\N	\N	EFO	5	EFO	disease	Normocalcemic tumoral calcinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306658	"" []	2040109	\N	\N	EFO	4	EFO	disease	Normocalcemic tumoral calcinosis
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:306658	"" []	2040110	\N	\N	EFO	4	EFO	neoplasm	Normocalcemic tumoral calcinosis
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:306658	"" []	2040111	\N	\N	EFO	4	EFO	skin disease	Normocalcemic tumoral calcinosis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306658	"" []	2040112	\N	\N	EFO	4	EFO	genetic disorder	Normocalcemic tumoral calcinosis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:306658	"" []	2040113	\N	\N	EFO	4	EFO	neoplasm	Normocalcemic tumoral calcinosis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306658	"" []	2040114	\N	\N	EFO	4	EFO	genetic disorder	Normocalcemic tumoral calcinosis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:306658	"" []	2040115	\N	\N	EFO	4	EFO	endocrine system disease	Normocalcemic tumoral calcinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306658	"" []	4133835	\N	\N	EFO	6	EFO	disposition	Normocalcemic tumoral calcinosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306658	"" []	3190443	\N	\N	EFO	5	EFO	disease	Normocalcemic tumoral calcinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306658	"" []	3190444	\N	\N	EFO	5	EFO	disease	Normocalcemic tumoral calcinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306658	"" []	5182545	\N	\N	EFO	7	EFO	material property	Normocalcemic tumoral calcinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306658	"" []	5997915	\N	\N	EFO	8	EFO	experimental factor	Normocalcemic tumoral calcinosis
Orphanet:306661	\N	\N	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	76209	\N	\N	EFO	0	EFO	Familial tumoral calcinosis	Familial tumoral calcinosis
Orphanet:309458	Orphanet:306661	\N	"" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	219093	\N	\N	EFO	1	EFO	Disorder of O-N-acetylgalactosaminylglycan synthesis	Familial tumoral calcinosis
Orphanet:371200	Orphanet:306661	\N	"" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	219094	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	Familial tumoral calcinosis
Orphanet:53715	Orphanet:306661	\N	"" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	219095	\N	\N	EFO	1	EFO	Tumoral calcinosis	Familial tumoral calcinosis
Orphanet:309447	Orphanet:309458	\N	"" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	574339	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Familial tumoral calcinosis
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	574340	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Familial tumoral calcinosis
EFO:0003769	Orphanet:53715	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	574341	\N	\N	EFO	2	EFO	endocrine neoplasm	Familial tumoral calcinosis
EFO:0005769	Orphanet:53715	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	574342	\N	\N	EFO	2	EFO	calcium metabolic disease	Familial tumoral calcinosis
Orphanet:183487	Orphanet:53715	\N	"" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	574343	\N	\N	EFO	2	EFO	Genetic skin tumor	Familial tumoral calcinosis
Orphanet:183634	Orphanet:53715	\N	"" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	574344	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Familial tumoral calcinosis
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	1157073	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Familial tumoral calcinosis
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	1157074	\N	\N	EFO	3	EFO	Rare genetic skin disease	Familial tumoral calcinosis
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	1157075	\N	\N	EFO	3	EFO	neoplasm	Familial tumoral calcinosis
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	1157076	\N	\N	EFO	3	EFO	endocrine system disease	Familial tumoral calcinosis
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	1157077	\N	\N	EFO	3	EFO	metabolic disease	Familial tumoral calcinosis
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	1157078	\N	\N	EFO	3	EFO	skin neoplasm	Familial tumoral calcinosis
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	1157079	\N	\N	EFO	3	EFO	Rare genetic tumor	Familial tumoral calcinosis
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	1157080	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial tumoral calcinosis
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	2040116	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Familial tumoral calcinosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	2040117	\N	\N	EFO	4	EFO	genetic disorder	Familial tumoral calcinosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	2040118	\N	\N	EFO	4	EFO	skin disease	Familial tumoral calcinosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	3190451	\N	\N	EFO	5	EFO	disease	Familial tumoral calcinosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	3190452	\N	\N	EFO	5	EFO	disease	Familial tumoral calcinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	4397309	\N	\N	EFO	6	EFO	disease	Familial tumoral calcinosis
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	2040122	\N	\N	EFO	4	EFO	neoplasm	Familial tumoral calcinosis
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	2040123	\N	\N	EFO	4	EFO	skin disease	Familial tumoral calcinosis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	2040124	\N	\N	EFO	4	EFO	genetic disorder	Familial tumoral calcinosis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	2040125	\N	\N	EFO	4	EFO	neoplasm	Familial tumoral calcinosis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	2040126	\N	\N	EFO	4	EFO	genetic disorder	Familial tumoral calcinosis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	2040127	\N	\N	EFO	4	EFO	endocrine system disease	Familial tumoral calcinosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	3190446	\N	\N	EFO	5	EFO	genetic disorder	Familial tumoral calcinosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	3190447	\N	\N	EFO	5	EFO	metabolic disease	Familial tumoral calcinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	4397308	\N	\N	EFO	6	EFO	disease	Familial tumoral calcinosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	3190449	\N	\N	EFO	5	EFO	disease	Familial tumoral calcinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	5059957	\N	\N	EFO	7	EFO	disposition	Familial tumoral calcinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	5877285	\N	\N	EFO	8	EFO	material property	Familial tumoral calcinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306661	"Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." []	6470514	\N	\N	EFO	9	EFO	experimental factor	Familial tumoral calcinosis
Orphanet:306669	\N	\N	"" []	Orphanet:306669	"" []	76210	\N	\N	EFO	0	EFO	Hemiparkinsonism-hemiatrophy syndrome	Hemiparkinsonism-hemiatrophy syndrome
Orphanet:307055	Orphanet:306669	\N	"" []	Orphanet:306669	"" []	219096	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Hemiparkinsonism-hemiatrophy syndrome
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:306669	"" []	574345	\N	\N	EFO	2	EFO	neurodegenerative disease	Hemiparkinsonism-hemiatrophy syndrome
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:306669	"" []	574346	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Hemiparkinsonism-hemiatrophy syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306669	"" []	1157081	\N	\N	EFO	3	EFO	nervous system disease	Hemiparkinsonism-hemiatrophy syndrome
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:306669	"" []	1157082	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Hemiparkinsonism-hemiatrophy syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306669	"" []	4397312	\N	\N	EFO	6	EFO	disease	Hemiparkinsonism-hemiatrophy syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:306669	"" []	2040129	\N	\N	EFO	4	EFO	movement disorder	Hemiparkinsonism-hemiatrophy syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:306669	"" []	2040130	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hemiparkinsonism-hemiatrophy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306669	"" []	5059958	\N	\N	EFO	7	EFO	disposition	Hemiparkinsonism-hemiatrophy syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306669	"" []	3190454	\N	\N	EFO	5	EFO	nervous system disease	Hemiparkinsonism-hemiatrophy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306669	"" []	3190455	\N	\N	EFO	5	EFO	genetic disorder	Hemiparkinsonism-hemiatrophy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306669	"" []	5877286	\N	\N	EFO	8	EFO	material property	Hemiparkinsonism-hemiatrophy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306669	"" []	4397313	\N	\N	EFO	6	EFO	disease	Hemiparkinsonism-hemiatrophy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306669	"" []	6470515	\N	\N	EFO	9	EFO	experimental factor	Hemiparkinsonism-hemiatrophy syndrome
Orphanet:306674	\N	\N	"" []	Orphanet:306674	"" []	76211	\N	\N	EFO	0	EFO	Kufor-Rakeb syndrome	Kufor-Rakeb syndrome
Orphanet:307055	Orphanet:306674	\N	"" []	Orphanet:306674	"" []	219097	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Kufor-Rakeb syndrome
Orphanet:385	Orphanet:306674	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:306674	"" []	219098	\N	\N	EFO	1	EFO	Neurodegeneration with brain iron accumulation	Kufor-Rakeb syndrome
Orphanet:98691	Orphanet:306674	\N	"" []	Orphanet:306674	"" []	219099	\N	\N	EFO	1	EFO	Abnormal eye movements	Kufor-Rakeb syndrome
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:306674	"" []	574347	\N	\N	EFO	2	EFO	neurodegenerative disease	Kufor-Rakeb syndrome
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:306674	"" []	574348	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Kufor-Rakeb syndrome
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:306674	"" []	574349	\N	\N	EFO	2	EFO	Genetic dementia	Kufor-Rakeb syndrome
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:306674	"" []	574350	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Kufor-Rakeb syndrome
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:306674	"" []	574351	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Kufor-Rakeb syndrome
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:306674	"" []	574352	\N	\N	EFO	2	EFO	Neurometabolic disease	Kufor-Rakeb syndrome
Orphanet:183616	Orphanet:98691	\N	"" []	Orphanet:306674	"" []	574353	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Kufor-Rakeb syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306674	"" []	2040136	\N	\N	EFO	4	EFO	nervous system disease	Kufor-Rakeb syndrome
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:306674	"" []	1157084	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Kufor-Rakeb syndrome
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:306674	"" []	1157085	\N	\N	EFO	3	EFO	brain disease	Kufor-Rakeb syndrome
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:306674	"" []	1157086	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Kufor-Rakeb syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:306674	"" []	1157087	\N	\N	EFO	3	EFO	neurodegenerative disease	Kufor-Rakeb syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:306674	"" []	1157088	\N	\N	EFO	3	EFO	brain disease	Kufor-Rakeb syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:306674	"" []	1157089	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Kufor-Rakeb syndrome
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:306674	"" []	1157090	\N	\N	EFO	3	EFO	neurodegenerative disease	Kufor-Rakeb syndrome
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:306674	"" []	1157091	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Kufor-Rakeb syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:306674	"" []	1157092	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Kufor-Rakeb syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:306674	"" []	1157093	\N	\N	EFO	3	EFO	Rare genetic eye disease	Kufor-Rakeb syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306674	"" []	4397315	\N	\N	EFO	6	EFO	disease	Kufor-Rakeb syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:306674	"" []	2040132	\N	\N	EFO	4	EFO	movement disorder	Kufor-Rakeb syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:306674	"" []	2040133	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Kufor-Rakeb syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306674	"" []	2040134	\N	\N	EFO	4	EFO	nervous system disease	Kufor-Rakeb syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306674	"" []	3190458	\N	\N	EFO	5	EFO	genetic disorder	Kufor-Rakeb syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306674	"" []	2040137	\N	\N	EFO	4	EFO	genetic disorder	Kufor-Rakeb syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:306674	"" []	2040138	\N	\N	EFO	4	EFO	eye disease	Kufor-Rakeb syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306674	"" []	5059959	\N	\N	EFO	7	EFO	disposition	Kufor-Rakeb syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306674	"" []	3190457	\N	\N	EFO	5	EFO	nervous system disease	Kufor-Rakeb syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306674	"" []	4133838	\N	\N	EFO	6	EFO	disease	Kufor-Rakeb syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306674	"" []	3190460	\N	\N	EFO	5	EFO	disease	Kufor-Rakeb syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306674	"" []	5877287	\N	\N	EFO	8	EFO	material property	Kufor-Rakeb syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306674	"" []	6470516	\N	\N	EFO	9	EFO	experimental factor	Kufor-Rakeb syndrome
Orphanet:3067	\N	\N	"" []	Orphanet:3067	"" []	76212	\N	\N	EFO	0	EFO	Intellectual disability - microcephaly - phalangeal - facial abnormalities	Intellectual disability - microcephaly - phalangeal - facial abnormalities
Orphanet:183763	Orphanet:3067	\N	"" []	Orphanet:3067	"" []	219100	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - microcephaly - phalangeal - facial abnormalities
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3067	"" []	574354	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - microcephaly - phalangeal - facial abnormalities
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3067	"" []	1157094	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - microcephaly - phalangeal - facial abnormalities
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3067	"" []	2040139	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - microcephaly - phalangeal - facial abnormalities
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3067	"" []	3190461	\N	\N	EFO	5	EFO	disease	Intellectual disability - microcephaly - phalangeal - facial abnormalities
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3067	"" []	4397316	\N	\N	EFO	6	EFO	disposition	Intellectual disability - microcephaly - phalangeal - facial abnormalities
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3067	"" []	5414863	\N	\N	EFO	7	EFO	material property	Intellectual disability - microcephaly - phalangeal - facial abnormalities
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3067	"" []	6150984	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability - microcephaly - phalangeal - facial abnormalities
Orphanet:306708	\N	\N	"" []	Orphanet:306708	"" []	76213	\N	\N	EFO	0	EFO	Frontotemporal neurodegeneration with movement disorder	Frontotemporal neurodegeneration with movement disorder
Orphanet:307058	Orphanet:306708	\N	"" []	Orphanet:306708	"" []	219101	\N	\N	EFO	1	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Frontotemporal neurodegeneration with movement disorder
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:306708	"" []	574355	\N	\N	EFO	2	EFO	neurodegenerative disease	Frontotemporal neurodegeneration with movement disorder
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:306708	"" []	574356	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Frontotemporal neurodegeneration with movement disorder
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306708	"" []	1157095	\N	\N	EFO	3	EFO	nervous system disease	Frontotemporal neurodegeneration with movement disorder
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:306708	"" []	1157096	\N	\N	EFO	3	EFO	movement disorder	Frontotemporal neurodegeneration with movement disorder
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:306708	"" []	1157097	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Frontotemporal neurodegeneration with movement disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306708	"" []	3190463	\N	\N	EFO	5	EFO	disease	Frontotemporal neurodegeneration with movement disorder
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306708	"" []	2040141	\N	\N	EFO	4	EFO	nervous system disease	Frontotemporal neurodegeneration with movement disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306708	"" []	2040142	\N	\N	EFO	4	EFO	genetic disorder	Frontotemporal neurodegeneration with movement disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306708	"" []	4133839	\N	\N	EFO	6	EFO	disposition	Frontotemporal neurodegeneration with movement disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306708	"" []	3190464	\N	\N	EFO	5	EFO	disease	Frontotemporal neurodegeneration with movement disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306708	"" []	5182548	\N	\N	EFO	7	EFO	material property	Frontotemporal neurodegeneration with movement disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306708	"" []	5997918	\N	\N	EFO	8	EFO	experimental factor	Frontotemporal neurodegeneration with movement disorder
Orphanet:306719	\N	\N	"" []	Orphanet:306719	"" []	76214	\N	\N	EFO	0	EFO	Neurodegenerative disease with chorea	Neurodegenerative disease with chorea
EFO:0005772	Orphanet:306719	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:306719	"" []	219102	\N	\N	EFO	1	EFO	neurodegenerative disease	Neurodegenerative disease with chorea
Orphanet:183521	Orphanet:306719	\N	"" []	Orphanet:306719	"" []	219103	\N	\N	EFO	1	EFO	Rare genetic movement disorder	Neurodegenerative disease with chorea
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306719	"" []	574357	\N	\N	EFO	2	EFO	nervous system disease	Neurodegenerative disease with chorea
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:306719	"" []	574358	\N	\N	EFO	2	EFO	movement disorder	Neurodegenerative disease with chorea
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:306719	"" []	574359	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neurodegenerative disease with chorea
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306719	"" []	2040144	\N	\N	EFO	4	EFO	disease	Neurodegenerative disease with chorea
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306719	"" []	1157099	\N	\N	EFO	3	EFO	nervous system disease	Neurodegenerative disease with chorea
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306719	"" []	1157100	\N	\N	EFO	3	EFO	genetic disorder	Neurodegenerative disease with chorea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306719	"" []	3000294	\N	\N	EFO	5	EFO	disposition	Neurodegenerative disease with chorea
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306719	"" []	2040145	\N	\N	EFO	4	EFO	disease	Neurodegenerative disease with chorea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306719	"" []	4133840	\N	\N	EFO	6	EFO	material property	Neurodegenerative disease with chorea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306719	"" []	5182549	\N	\N	EFO	7	EFO	experimental factor	Neurodegenerative disease with chorea
Orphanet:306734	\N	\N	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	76215	\N	\N	EFO	0	EFO	Primary dystonia, DYT21 type	Primary dystonia, DYT21 type
Orphanet:376724	Orphanet:306734	\N	"" []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	219104	\N	\N	EFO	1	EFO	Generalized isolated dystonia	Primary dystonia, DYT21 type
Orphanet:156159	Orphanet:376724	\N	"" []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	574360	\N	\N	EFO	2	EFO	Isolated dystonia	Primary dystonia, DYT21 type
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	1157101	\N	\N	EFO	3	EFO	Rare genetic dystonia	Primary dystonia, DYT21 type
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	2040146	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Primary dystonia, DYT21 type
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	3190466	\N	\N	EFO	5	EFO	movement disorder	Primary dystonia, DYT21 type
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	3190467	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Primary dystonia, DYT21 type
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	4397319	\N	\N	EFO	6	EFO	nervous system disease	Primary dystonia, DYT21 type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	4397320	\N	\N	EFO	6	EFO	genetic disorder	Primary dystonia, DYT21 type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	5414865	\N	\N	EFO	7	EFO	disease	Primary dystonia, DYT21 type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	5414866	\N	\N	EFO	7	EFO	disease	Primary dystonia, DYT21 type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	6150985	\N	\N	EFO	8	EFO	disposition	Primary dystonia, DYT21 type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	6633467	\N	\N	EFO	9	EFO	material property	Primary dystonia, DYT21 type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306734	"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." []	6926018	\N	\N	EFO	10	EFO	experimental factor	Primary dystonia, DYT21 type
Orphanet:306750	\N	\N	"" []	Orphanet:306750	"" []	76216	\N	\N	EFO	0	EFO	Primary myoclonus	Primary myoclonus
Orphanet:307064	Orphanet:306750	\N	"" []	Orphanet:306750	"" []	219105	\N	\N	EFO	1	EFO	Rare genetic myoclonus	Primary myoclonus
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:306750	"" []	574361	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Primary myoclonus
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:306750	"" []	1157102	\N	\N	EFO	3	EFO	movement disorder	Primary myoclonus
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:306750	"" []	1157103	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Primary myoclonus
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306750	"" []	2040147	\N	\N	EFO	4	EFO	nervous system disease	Primary myoclonus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306750	"" []	2040148	\N	\N	EFO	4	EFO	genetic disorder	Primary myoclonus
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306750	"" []	3190468	\N	\N	EFO	5	EFO	disease	Primary myoclonus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306750	"" []	3190469	\N	\N	EFO	5	EFO	disease	Primary myoclonus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306750	"" []	4397321	\N	\N	EFO	6	EFO	disposition	Primary myoclonus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306750	"" []	5414867	\N	\N	EFO	7	EFO	material property	Primary myoclonus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306750	"" []	6150986	\N	\N	EFO	8	EFO	experimental factor	Primary myoclonus
Orphanet:306756	\N	\N	"" []	Orphanet:306756	"" []	76217	\N	\N	EFO	0	EFO	Epilepsy and/or ataxia with myoclonus as major feature	Epilepsy and/or ataxia with myoclonus as major feature
Orphanet:307067	Orphanet:306756	\N	"" []	Orphanet:306756	"" []	219106	\N	\N	EFO	1	EFO	Rare genetic disease with myoclonus as a major feature	Epilepsy and/or ataxia with myoclonus as major feature
Orphanet:307064	Orphanet:307067	\N	"" []	Orphanet:306756	"" []	574362	\N	\N	EFO	2	EFO	Rare genetic myoclonus	Epilepsy and/or ataxia with myoclonus as major feature
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:306756	"" []	1157104	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Epilepsy and/or ataxia with myoclonus as major feature
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:306756	"" []	2040149	\N	\N	EFO	4	EFO	movement disorder	Epilepsy and/or ataxia with myoclonus as major feature
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:306756	"" []	2040150	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Epilepsy and/or ataxia with myoclonus as major feature
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306756	"" []	3190470	\N	\N	EFO	5	EFO	nervous system disease	Epilepsy and/or ataxia with myoclonus as major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306756	"" []	3190471	\N	\N	EFO	5	EFO	genetic disorder	Epilepsy and/or ataxia with myoclonus as major feature
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306756	"" []	4397322	\N	\N	EFO	6	EFO	disease	Epilepsy and/or ataxia with myoclonus as major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306756	"" []	4397323	\N	\N	EFO	6	EFO	disease	Epilepsy and/or ataxia with myoclonus as major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306756	"" []	5414868	\N	\N	EFO	7	EFO	disposition	Epilepsy and/or ataxia with myoclonus as major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306756	"" []	6150987	\N	\N	EFO	8	EFO	material property	Epilepsy and/or ataxia with myoclonus as major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306756	"" []	6633468	\N	\N	EFO	9	EFO	experimental factor	Epilepsy and/or ataxia with myoclonus as major feature
Orphanet:306759	\N	\N	"" []	Orphanet:306759	"" []	76218	\N	\N	EFO	0	EFO	Non progressive epilepsy and/or ataxia with myoclonus as a major feature	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
Orphanet:306756	Orphanet:306759	\N	"" []	Orphanet:306759	"" []	219107	\N	\N	EFO	1	EFO	Epilepsy and/or ataxia with myoclonus as major feature	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
Orphanet:307067	Orphanet:306756	\N	"" []	Orphanet:306759	"" []	574363	\N	\N	EFO	2	EFO	Rare genetic disease with myoclonus as a major feature	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
Orphanet:307064	Orphanet:307067	\N	"" []	Orphanet:306759	"" []	1157105	\N	\N	EFO	3	EFO	Rare genetic myoclonus	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:306759	"" []	2040151	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:306759	"" []	3190472	\N	\N	EFO	5	EFO	movement disorder	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:306759	"" []	3190473	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306759	"" []	4397324	\N	\N	EFO	6	EFO	nervous system disease	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306759	"" []	4397325	\N	\N	EFO	6	EFO	genetic disorder	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306759	"" []	5414869	\N	\N	EFO	7	EFO	disease	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306759	"" []	5414870	\N	\N	EFO	7	EFO	disease	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306759	"" []	6150988	\N	\N	EFO	8	EFO	disposition	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306759	"" []	6633469	\N	\N	EFO	9	EFO	material property	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306759	"" []	6926019	\N	\N	EFO	10	EFO	experimental factor	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
Orphanet:306762	\N	\N	"" []	Orphanet:306762	"" []	76219	\N	\N	EFO	0	EFO	Progressive epilepsy and/or ataxia with myoclonus as a major feature	Progressive epilepsy and/or ataxia with myoclonus as a major feature
Orphanet:306756	Orphanet:306762	\N	"" []	Orphanet:306762	"" []	219108	\N	\N	EFO	1	EFO	Epilepsy and/or ataxia with myoclonus as major feature	Progressive epilepsy and/or ataxia with myoclonus as a major feature
Orphanet:307067	Orphanet:306756	\N	"" []	Orphanet:306762	"" []	574364	\N	\N	EFO	2	EFO	Rare genetic disease with myoclonus as a major feature	Progressive epilepsy and/or ataxia with myoclonus as a major feature
Orphanet:307064	Orphanet:307067	\N	"" []	Orphanet:306762	"" []	1157106	\N	\N	EFO	3	EFO	Rare genetic myoclonus	Progressive epilepsy and/or ataxia with myoclonus as a major feature
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:306762	"" []	2040152	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Progressive epilepsy and/or ataxia with myoclonus as a major feature
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:306762	"" []	3190474	\N	\N	EFO	5	EFO	movement disorder	Progressive epilepsy and/or ataxia with myoclonus as a major feature
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:306762	"" []	3190475	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Progressive epilepsy and/or ataxia with myoclonus as a major feature
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306762	"" []	4397326	\N	\N	EFO	6	EFO	nervous system disease	Progressive epilepsy and/or ataxia with myoclonus as a major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306762	"" []	4397327	\N	\N	EFO	6	EFO	genetic disorder	Progressive epilepsy and/or ataxia with myoclonus as a major feature
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306762	"" []	5414871	\N	\N	EFO	7	EFO	disease	Progressive epilepsy and/or ataxia with myoclonus as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306762	"" []	5414872	\N	\N	EFO	7	EFO	disease	Progressive epilepsy and/or ataxia with myoclonus as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306762	"" []	6150989	\N	\N	EFO	8	EFO	disposition	Progressive epilepsy and/or ataxia with myoclonus as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306762	"" []	6633470	\N	\N	EFO	9	EFO	material property	Progressive epilepsy and/or ataxia with myoclonus as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306762	"" []	6926020	\N	\N	EFO	10	EFO	experimental factor	Progressive epilepsy and/or ataxia with myoclonus as a major feature
Orphanet:306765	\N	\N	"" []	Orphanet:306765	"" []	76220	\N	\N	EFO	0	EFO	Motor stereotypies	Motor stereotypies
Orphanet:183521	Orphanet:306765	\N	"" []	Orphanet:306765	"" []	219109	\N	\N	EFO	1	EFO	Rare genetic movement disorder	Motor stereotypies
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:306765	"" []	574365	\N	\N	EFO	2	EFO	movement disorder	Motor stereotypies
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:306765	"" []	574366	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Motor stereotypies
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306765	"" []	1157107	\N	\N	EFO	3	EFO	nervous system disease	Motor stereotypies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306765	"" []	1157108	\N	\N	EFO	3	EFO	genetic disorder	Motor stereotypies
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306765	"" []	2040153	\N	\N	EFO	4	EFO	disease	Motor stereotypies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306765	"" []	2040154	\N	\N	EFO	4	EFO	disease	Motor stereotypies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306765	"" []	3190476	\N	\N	EFO	5	EFO	disposition	Motor stereotypies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306765	"" []	4397328	\N	\N	EFO	6	EFO	material property	Motor stereotypies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306765	"" []	5414873	\N	\N	EFO	7	EFO	experimental factor	Motor stereotypies
Orphanet:306768	\N	\N	"" []	Orphanet:306768	"" []	76221	\N	\N	EFO	0	EFO	Rare paroxysmal movement disorder	Rare paroxysmal movement disorder
Orphanet:183521	Orphanet:306768	\N	"" []	Orphanet:306768	"" []	219110	\N	\N	EFO	1	EFO	Rare genetic movement disorder	Rare paroxysmal movement disorder
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:306768	"" []	574367	\N	\N	EFO	2	EFO	movement disorder	Rare paroxysmal movement disorder
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:306768	"" []	574368	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Rare paroxysmal movement disorder
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:306768	"" []	1157109	\N	\N	EFO	3	EFO	nervous system disease	Rare paroxysmal movement disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:306768	"" []	1157110	\N	\N	EFO	3	EFO	genetic disorder	Rare paroxysmal movement disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306768	"" []	2040155	\N	\N	EFO	4	EFO	disease	Rare paroxysmal movement disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:306768	"" []	2040156	\N	\N	EFO	4	EFO	disease	Rare paroxysmal movement disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:306768	"" []	3190477	\N	\N	EFO	5	EFO	disposition	Rare paroxysmal movement disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:306768	"" []	4397329	\N	\N	EFO	6	EFO	material property	Rare paroxysmal movement disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:306768	"" []	5414874	\N	\N	EFO	7	EFO	experimental factor	Rare paroxysmal movement disorder
Orphanet:3068	\N	\N	"" []	Orphanet:3068	"" []	76222	\N	\N	EFO	0	EFO	Intellectual disability - myopathy - short stature - endocrine defect	Intellectual disability - myopathy - short stature - endocrine defect
Orphanet:183763	Orphanet:3068	\N	"" []	Orphanet:3068	"" []	219111	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - myopathy - short stature - endocrine defect
Orphanet:97245	Orphanet:3068	\N	"" []	Orphanet:3068	"" []	219112	\N	\N	EFO	1	EFO	Congenital myopathy	Intellectual disability - myopathy - short stature - endocrine defect
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3068	"" []	574369	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - myopathy - short stature - endocrine defect
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:3068	"" []	574370	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Intellectual disability - myopathy - short stature - endocrine defect
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3068	"" []	1157111	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - myopathy - short stature - endocrine defect
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:3068	"" []	1157112	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Intellectual disability - myopathy - short stature - endocrine defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3068	"" []	4397332	\N	\N	EFO	6	EFO	genetic disorder	Intellectual disability - myopathy - short stature - endocrine defect
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:3068	"" []	2040158	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Intellectual disability - myopathy - short stature - endocrine defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3068	"" []	5059960	\N	\N	EFO	7	EFO	disease	Intellectual disability - myopathy - short stature - endocrine defect
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:3068	"" []	3190479	\N	\N	EFO	5	EFO	muscular disease	Intellectual disability - myopathy - short stature - endocrine defect
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:3068	"" []	3190480	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Intellectual disability - myopathy - short stature - endocrine defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3068	"" []	5877288	\N	\N	EFO	8	EFO	disposition	Intellectual disability - myopathy - short stature - endocrine defect
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3068	"" []	4397331	\N	\N	EFO	6	EFO	skeletal system disease	Intellectual disability - myopathy - short stature - endocrine defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3068	"" []	6470517	\N	\N	EFO	9	EFO	material property	Intellectual disability - myopathy - short stature - endocrine defect
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3068	"" []	5414876	\N	\N	EFO	7	EFO	disease	Intellectual disability - myopathy - short stature - endocrine defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3068	"" []	6848575	\N	\N	EFO	10	EFO	experimental factor	Intellectual disability - myopathy - short stature - endocrine defect
Orphanet:307	\N	\N	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	76223	\N	\N	EFO	0	EFO	Juvenile myoclonic epilepsy	Juvenile myoclonic epilepsy
Orphanet:306759	Orphanet:307	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	219113	\N	\N	EFO	1	EFO	Non progressive epilepsy and/or ataxia with myoclonus as a major feature	Juvenile myoclonic epilepsy
Orphanet:309	Orphanet:307	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	219114	\N	\N	EFO	1	EFO	Familial partial epilepsy	Juvenile myoclonic epilepsy
Orphanet:306756	Orphanet:306759	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	574371	\N	\N	EFO	2	EFO	Epilepsy and/or ataxia with myoclonus as major feature	Juvenile myoclonic epilepsy
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	574372	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Juvenile myoclonic epilepsy
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	574373	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Juvenile myoclonic epilepsy
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	574374	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Juvenile myoclonic epilepsy
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	574375	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Juvenile myoclonic epilepsy
Orphanet:307067	Orphanet:306756	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	1157113	\N	\N	EFO	3	EFO	Rare genetic disease with myoclonus as a major feature	Juvenile myoclonic epilepsy
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	1157114	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Juvenile myoclonic epilepsy
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	1157115	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Juvenile myoclonic epilepsy
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	1157116	\N	\N	EFO	3	EFO	Epilepsy syndrome	Juvenile myoclonic epilepsy
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	1157117	\N	\N	EFO	3	EFO	Epilepsy syndrome	Juvenile myoclonic epilepsy
Orphanet:307064	Orphanet:307067	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	2040159	\N	\N	EFO	4	EFO	Rare genetic myoclonus	Juvenile myoclonic epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	3190483	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Juvenile myoclonic epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	2040161	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Juvenile myoclonic epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	2040162	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Juvenile myoclonic epilepsy
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	3190481	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Juvenile myoclonic epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	5414878	\N	\N	EFO	7	EFO	genetic disorder	Juvenile myoclonic epilepsy
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	4397333	\N	\N	EFO	6	EFO	movement disorder	Juvenile myoclonic epilepsy
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	4397334	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Juvenile myoclonic epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	5877289	\N	\N	EFO	8	EFO	disease	Juvenile myoclonic epilepsy
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	5414877	\N	\N	EFO	7	EFO	nervous system disease	Juvenile myoclonic epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	6470518	\N	\N	EFO	9	EFO	disposition	Juvenile myoclonic epilepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	6150991	\N	\N	EFO	8	EFO	disease	Juvenile myoclonic epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	6848576	\N	\N	EFO	10	EFO	material property	Juvenile myoclonic epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307	"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." []	7068473	\N	\N	EFO	11	EFO	experimental factor	Juvenile myoclonic epilepsy
Orphanet:307052	\N	\N	"" []	Orphanet:307052	"" []	76224	\N	\N	EFO	0	EFO	Rare genetic parkinsonian disorder	Rare genetic parkinsonian disorder
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:307052	"" []	219115	\N	\N	EFO	1	EFO	Rare genetic movement disorder	Rare genetic parkinsonian disorder
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:307052	"" []	574376	\N	\N	EFO	2	EFO	movement disorder	Rare genetic parkinsonian disorder
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:307052	"" []	574377	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Rare genetic parkinsonian disorder
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:307052	"" []	1157118	\N	\N	EFO	3	EFO	nervous system disease	Rare genetic parkinsonian disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307052	"" []	1157119	\N	\N	EFO	3	EFO	genetic disorder	Rare genetic parkinsonian disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307052	"" []	2040163	\N	\N	EFO	4	EFO	disease	Rare genetic parkinsonian disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307052	"" []	2040164	\N	\N	EFO	4	EFO	disease	Rare genetic parkinsonian disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307052	"" []	3190484	\N	\N	EFO	5	EFO	disposition	Rare genetic parkinsonian disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307052	"" []	4397336	\N	\N	EFO	6	EFO	material property	Rare genetic parkinsonian disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307052	"" []	5414880	\N	\N	EFO	7	EFO	experimental factor	Rare genetic parkinsonian disorder
Orphanet:307055	\N	\N	"" []	Orphanet:307055	"" []	76225	\N	\N	EFO	0	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Rare parkinsonian syndrome due to genetic neurodegenerative disease
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:307055	"" []	219116	\N	\N	EFO	1	EFO	neurodegenerative disease	Rare parkinsonian syndrome due to genetic neurodegenerative disease
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:307055	"" []	219117	\N	\N	EFO	1	EFO	Rare genetic parkinsonian disorder	Rare parkinsonian syndrome due to genetic neurodegenerative disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:307055	"" []	574378	\N	\N	EFO	2	EFO	nervous system disease	Rare parkinsonian syndrome due to genetic neurodegenerative disease
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:307055	"" []	574379	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Rare parkinsonian syndrome due to genetic neurodegenerative disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307055	"" []	3190486	\N	\N	EFO	5	EFO	disease	Rare parkinsonian syndrome due to genetic neurodegenerative disease
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:307055	"" []	1157121	\N	\N	EFO	3	EFO	movement disorder	Rare parkinsonian syndrome due to genetic neurodegenerative disease
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:307055	"" []	1157122	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Rare parkinsonian syndrome due to genetic neurodegenerative disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307055	"" []	4066930	\N	\N	EFO	6	EFO	disposition	Rare parkinsonian syndrome due to genetic neurodegenerative disease
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:307055	"" []	2040166	\N	\N	EFO	4	EFO	nervous system disease	Rare parkinsonian syndrome due to genetic neurodegenerative disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307055	"" []	2040167	\N	\N	EFO	4	EFO	genetic disorder	Rare parkinsonian syndrome due to genetic neurodegenerative disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307055	"" []	5059961	\N	\N	EFO	7	EFO	material property	Rare parkinsonian syndrome due to genetic neurodegenerative disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307055	"" []	3190487	\N	\N	EFO	5	EFO	disease	Rare parkinsonian syndrome due to genetic neurodegenerative disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307055	"" []	5877290	\N	\N	EFO	8	EFO	experimental factor	Rare parkinsonian syndrome due to genetic neurodegenerative disease
Orphanet:307058	\N	\N	"" []	Orphanet:307058	"" []	76226	\N	\N	EFO	0	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Miscellaneous movement disorder due to genetic neurodegenerative disease
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:307058	"" []	219118	\N	\N	EFO	1	EFO	neurodegenerative disease	Miscellaneous movement disorder due to genetic neurodegenerative disease
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:307058	"" []	219119	\N	\N	EFO	1	EFO	Rare genetic movement disorder	Miscellaneous movement disorder due to genetic neurodegenerative disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:307058	"" []	574380	\N	\N	EFO	2	EFO	nervous system disease	Miscellaneous movement disorder due to genetic neurodegenerative disease
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:307058	"" []	574381	\N	\N	EFO	2	EFO	movement disorder	Miscellaneous movement disorder due to genetic neurodegenerative disease
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:307058	"" []	574382	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Miscellaneous movement disorder due to genetic neurodegenerative disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307058	"" []	2040169	\N	\N	EFO	4	EFO	disease	Miscellaneous movement disorder due to genetic neurodegenerative disease
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:307058	"" []	1157124	\N	\N	EFO	3	EFO	nervous system disease	Miscellaneous movement disorder due to genetic neurodegenerative disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307058	"" []	1157125	\N	\N	EFO	3	EFO	genetic disorder	Miscellaneous movement disorder due to genetic neurodegenerative disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307058	"" []	3000295	\N	\N	EFO	5	EFO	disposition	Miscellaneous movement disorder due to genetic neurodegenerative disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307058	"" []	2040170	\N	\N	EFO	4	EFO	disease	Miscellaneous movement disorder due to genetic neurodegenerative disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307058	"" []	4133842	\N	\N	EFO	6	EFO	material property	Miscellaneous movement disorder due to genetic neurodegenerative disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307058	"" []	5182551	\N	\N	EFO	7	EFO	experimental factor	Miscellaneous movement disorder due to genetic neurodegenerative disease
Orphanet:307061	\N	\N	"" []	Orphanet:307061	"" []	76227	\N	\N	EFO	0	EFO	Rare genetic tremor disorder	Rare genetic tremor disorder
Orphanet:183521	Orphanet:307061	\N	"" []	Orphanet:307061	"" []	219120	\N	\N	EFO	1	EFO	Rare genetic movement disorder	Rare genetic tremor disorder
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:307061	"" []	574383	\N	\N	EFO	2	EFO	movement disorder	Rare genetic tremor disorder
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:307061	"" []	574384	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Rare genetic tremor disorder
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:307061	"" []	1157126	\N	\N	EFO	3	EFO	nervous system disease	Rare genetic tremor disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307061	"" []	1157127	\N	\N	EFO	3	EFO	genetic disorder	Rare genetic tremor disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307061	"" []	2040171	\N	\N	EFO	4	EFO	disease	Rare genetic tremor disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307061	"" []	2040172	\N	\N	EFO	4	EFO	disease	Rare genetic tremor disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307061	"" []	3190489	\N	\N	EFO	5	EFO	disposition	Rare genetic tremor disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307061	"" []	4397339	\N	\N	EFO	6	EFO	material property	Rare genetic tremor disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307061	"" []	5414881	\N	\N	EFO	7	EFO	experimental factor	Rare genetic tremor disorder
Orphanet:307064	\N	\N	"" []	Orphanet:307064	"" []	76228	\N	\N	EFO	0	EFO	Rare genetic myoclonus	Rare genetic myoclonus
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:307064	"" []	219121	\N	\N	EFO	1	EFO	Rare genetic movement disorder	Rare genetic myoclonus
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:307064	"" []	574385	\N	\N	EFO	2	EFO	movement disorder	Rare genetic myoclonus
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:307064	"" []	574386	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Rare genetic myoclonus
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:307064	"" []	1157128	\N	\N	EFO	3	EFO	nervous system disease	Rare genetic myoclonus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307064	"" []	1157129	\N	\N	EFO	3	EFO	genetic disorder	Rare genetic myoclonus
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307064	"" []	2040173	\N	\N	EFO	4	EFO	disease	Rare genetic myoclonus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307064	"" []	2040174	\N	\N	EFO	4	EFO	disease	Rare genetic myoclonus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307064	"" []	3190490	\N	\N	EFO	5	EFO	disposition	Rare genetic myoclonus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307064	"" []	4397340	\N	\N	EFO	6	EFO	material property	Rare genetic myoclonus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307064	"" []	5414882	\N	\N	EFO	7	EFO	experimental factor	Rare genetic myoclonus
Orphanet:307067	\N	\N	"" []	Orphanet:307067	"" []	76229	\N	\N	EFO	0	EFO	Rare genetic disease with myoclonus as a major feature	Rare genetic disease with myoclonus as a major feature
Orphanet:307064	Orphanet:307067	\N	"" []	Orphanet:307067	"" []	219122	\N	\N	EFO	1	EFO	Rare genetic myoclonus	Rare genetic disease with myoclonus as a major feature
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:307067	"" []	574387	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Rare genetic disease with myoclonus as a major feature
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:307067	"" []	1157130	\N	\N	EFO	3	EFO	movement disorder	Rare genetic disease with myoclonus as a major feature
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:307067	"" []	1157131	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Rare genetic disease with myoclonus as a major feature
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:307067	"" []	2040175	\N	\N	EFO	4	EFO	nervous system disease	Rare genetic disease with myoclonus as a major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307067	"" []	2040176	\N	\N	EFO	4	EFO	genetic disorder	Rare genetic disease with myoclonus as a major feature
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307067	"" []	3190491	\N	\N	EFO	5	EFO	disease	Rare genetic disease with myoclonus as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307067	"" []	3190492	\N	\N	EFO	5	EFO	disease	Rare genetic disease with myoclonus as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307067	"" []	4397341	\N	\N	EFO	6	EFO	disposition	Rare genetic disease with myoclonus as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307067	"" []	5414883	\N	\N	EFO	7	EFO	material property	Rare genetic disease with myoclonus as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307067	"" []	6150993	\N	\N	EFO	8	EFO	experimental factor	Rare genetic disease with myoclonus as a major feature
Orphanet:3071	\N	\N	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	76230	\N	\N	EFO	0	EFO	Costello syndrome	Costello syndrome
Orphanet:102283	Orphanet:3071	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	219123	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Costello syndrome
Orphanet:139027	Orphanet:3071	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	219124	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Costello syndrome
Orphanet:183422	Orphanet:3071	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	219125	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Costello syndrome
Orphanet:183763	Orphanet:3071	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	219126	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Costello syndrome
Orphanet:228215	Orphanet:3071	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	219127	\N	\N	EFO	1	EFO	Genetic dermis elastic tissue disorder	Costello syndrome
Orphanet:98733	Orphanet:3071	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	219128	\N	\N	EFO	1	EFO	Noonan syndrome and Noonan-related syndrome	Costello syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	574388	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Costello syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	574389	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Costello syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	574390	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Costello syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	574391	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Costello syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	574392	\N	\N	EFO	2	EFO	Genetic dermis disorder	Costello syndrome
Orphanet:183570	Orphanet:98733	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	574393	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Costello syndrome
Orphanet:217595	Orphanet:98733	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	574394	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	Costello syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	1157132	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Costello syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	2040177	\N	\N	EFO	4	EFO	genetic disorder	Costello syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	1157134	\N	\N	EFO	3	EFO	genetic disorder	Costello syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	1157135	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Costello syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	1157136	\N	\N	EFO	3	EFO	Rare genetic skin disease	Costello syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	1157137	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Costello syndrome
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	1157138	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Costello syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	4397343	\N	\N	EFO	6	EFO	disease	Costello syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	2040179	\N	\N	EFO	4	EFO	genetic disorder	Costello syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	2040180	\N	\N	EFO	4	EFO	genetic disorder	Costello syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	2040181	\N	\N	EFO	4	EFO	skin disease	Costello syndrome
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	2040182	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Costello syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	6150994	\N	\N	EFO	8	EFO	disposition	Costello syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	3190494	\N	\N	EFO	5	EFO	disease	Costello syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	3190495	\N	\N	EFO	5	EFO	genetic disorder	Costello syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	3190496	\N	\N	EFO	5	EFO	heart disease	Costello syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	6410114	\N	\N	EFO	9	EFO	material property	Costello syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	4397344	\N	\N	EFO	6	EFO	cardiovascular disease	Costello syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	6807952	\N	\N	EFO	10	EFO	experimental factor	Costello syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3071	"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." []	5414885	\N	\N	EFO	7	EFO	disease	Costello syndrome
Orphanet:307141	\N	\N	"" []	Orphanet:307141	"" []	76231	\N	\N	EFO	0	EFO	Diffuse palmoplantar keratoderma	Diffuse palmoplantar keratoderma
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:307141	"" []	219129	\N	\N	EFO	1	EFO	Hereditary palmoplantar keratoderma	Diffuse palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:307141	"" []	574395	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Diffuse palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:307141	"" []	1157139	\N	\N	EFO	3	EFO	Rare genetic skin disease	Diffuse palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307141	"" []	2040183	\N	\N	EFO	4	EFO	genetic disorder	Diffuse palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307141	"" []	2040184	\N	\N	EFO	4	EFO	skin disease	Diffuse palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307141	"" []	3190497	\N	\N	EFO	5	EFO	disease	Diffuse palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307141	"" []	3190498	\N	\N	EFO	5	EFO	disease	Diffuse palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307141	"" []	4397345	\N	\N	EFO	6	EFO	disposition	Diffuse palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307141	"" []	5414886	\N	\N	EFO	7	EFO	material property	Diffuse palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307141	"" []	6150995	\N	\N	EFO	8	EFO	experimental factor	Diffuse palmoplantar keratoderma
Orphanet:307148	\N	\N	"" []	Orphanet:307148	"" []	76232	\N	\N	EFO	0	EFO	Isolated diffuse palmoplantar keratoderma	Isolated diffuse palmoplantar keratoderma
Orphanet:307141	Orphanet:307148	\N	"" []	Orphanet:307148	"" []	219130	\N	\N	EFO	1	EFO	Diffuse palmoplantar keratoderma	Isolated diffuse palmoplantar keratoderma
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:307148	"" []	574396	\N	\N	EFO	2	EFO	Hereditary palmoplantar keratoderma	Isolated diffuse palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:307148	"" []	1157140	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Isolated diffuse palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:307148	"" []	2040185	\N	\N	EFO	4	EFO	Rare genetic skin disease	Isolated diffuse palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307148	"" []	3190499	\N	\N	EFO	5	EFO	genetic disorder	Isolated diffuse palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307148	"" []	3190500	\N	\N	EFO	5	EFO	skin disease	Isolated diffuse palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307148	"" []	4397346	\N	\N	EFO	6	EFO	disease	Isolated diffuse palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307148	"" []	4397347	\N	\N	EFO	6	EFO	disease	Isolated diffuse palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307148	"" []	5414887	\N	\N	EFO	7	EFO	disposition	Isolated diffuse palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307148	"" []	6150996	\N	\N	EFO	8	EFO	material property	Isolated diffuse palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307148	"" []	6633472	\N	\N	EFO	9	EFO	experimental factor	Isolated diffuse palmoplantar keratoderma
Orphanet:3074	\N	\N	"" []	Orphanet:3074	"" []	76233	\N	\N	EFO	0	EFO	Intellectual disability - short stature - hypertelorism	Intellectual disability - short stature - hypertelorism
Orphanet:102283	Orphanet:3074	\N	"" []	Orphanet:3074	"" []	219131	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability - short stature - hypertelorism
Orphanet:183763	Orphanet:3074	\N	"" []	Orphanet:3074	"" []	219132	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - short stature - hypertelorism
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3074	"" []	574397	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability - short stature - hypertelorism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3074	"" []	574398	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - short stature - hypertelorism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3074	"" []	1157141	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability - short stature - hypertelorism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3074	"" []	1157142	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - short stature - hypertelorism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3074	"" []	2040186	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - short stature - hypertelorism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3074	"" []	2040187	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - short stature - hypertelorism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3074	"" []	3190501	\N	\N	EFO	5	EFO	disease	Intellectual disability - short stature - hypertelorism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3074	"" []	4397348	\N	\N	EFO	6	EFO	disposition	Intellectual disability - short stature - hypertelorism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3074	"" []	5414888	\N	\N	EFO	7	EFO	material property	Intellectual disability - short stature - hypertelorism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3074	"" []	6150997	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability - short stature - hypertelorism
Orphanet:3077	\N	\N	"" []	Orphanet:3077	"" []	76234	\N	\N	EFO	0	EFO	X-linked intellectual disability - psychosis - macroorchidism	X-linked intellectual disability - psychosis - macroorchidism
Orphanet:98464	Orphanet:3077	\N	"" []	Orphanet:3077	"" []	219133	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - psychosis - macroorchidism
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3077	"" []	574399	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - psychosis - macroorchidism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3077	"" []	1157143	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - psychosis - macroorchidism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3077	"" []	2040188	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - psychosis - macroorchidism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3077	"" []	3190502	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - psychosis - macroorchidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3077	"" []	4397349	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - psychosis - macroorchidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3077	"" []	5414889	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - psychosis - macroorchidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3077	"" []	6150998	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - psychosis - macroorchidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3077	"" []	6633473	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - psychosis - macroorchidism
Orphanet:307711	\N	\N	"" []	Orphanet:307711	"" []	76235	\N	\N	EFO	0	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:307711	"" []	219134	\N	\N	EFO	1	EFO	Diffuse palmoplantar keratoderma	Disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:307711	"" []	574400	\N	\N	EFO	2	EFO	Hereditary palmoplantar keratoderma	Disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:307711	"" []	1157144	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:307711	"" []	2040189	\N	\N	EFO	4	EFO	Rare genetic skin disease	Disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307711	"" []	3190503	\N	\N	EFO	5	EFO	genetic disorder	Disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307711	"" []	3190504	\N	\N	EFO	5	EFO	skin disease	Disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307711	"" []	4397350	\N	\N	EFO	6	EFO	disease	Disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307711	"" []	4397351	\N	\N	EFO	6	EFO	disease	Disease with diffuse palmoplantar keratoderma as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307711	"" []	5414890	\N	\N	EFO	7	EFO	disposition	Disease with diffuse palmoplantar keratoderma as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307711	"" []	6150999	\N	\N	EFO	8	EFO	material property	Disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307711	"" []	6633474	\N	\N	EFO	9	EFO	experimental factor	Disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:307766	\N	\N	"" []	Orphanet:307766	"" []	76236	\N	\N	EFO	0	EFO	Curly hair-acral keratoderma-caries syndrome	Curly hair-acral keratoderma-caries syndrome
Orphanet:79373	Orphanet:307766	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:307766	"" []	219135	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Curly hair-acral keratoderma-caries syndrome
Orphanet:98352	Orphanet:307766	\N	"" []	Orphanet:307766	"" []	219136	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Curly hair-acral keratoderma-caries syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:307766	"" []	574401	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Curly hair-acral keratoderma-caries syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:307766	"" []	574402	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Curly hair-acral keratoderma-caries syndrome
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:307766	"" []	574403	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Curly hair-acral keratoderma-caries syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:307766	"" []	1157145	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Curly hair-acral keratoderma-caries syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:307766	"" []	1157146	\N	\N	EFO	3	EFO	Rare genetic skin disease	Curly hair-acral keratoderma-caries syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:307766	"" []	1157147	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Curly hair-acral keratoderma-caries syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307766	"" []	2040190	\N	\N	EFO	4	EFO	genetic disorder	Curly hair-acral keratoderma-caries syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307766	"" []	5414892	\N	\N	EFO	7	EFO	genetic disorder	Curly hair-acral keratoderma-caries syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307766	"" []	5414893	\N	\N	EFO	7	EFO	skin disease	Curly hair-acral keratoderma-caries syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:307766	"" []	2040193	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Curly hair-acral keratoderma-caries syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307766	"" []	5817694	\N	\N	EFO	8	EFO	disease	Curly hair-acral keratoderma-caries syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307766	"" []	5817695	\N	\N	EFO	8	EFO	disease	Curly hair-acral keratoderma-caries syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:307766	"" []	3190507	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Curly hair-acral keratoderma-caries syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307766	"" []	6410115	\N	\N	EFO	9	EFO	disposition	Curly hair-acral keratoderma-caries syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:307766	"" []	4397353	\N	\N	EFO	6	EFO	Rare genetic skin disease	Curly hair-acral keratoderma-caries syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307766	"" []	6807953	\N	\N	EFO	10	EFO	material property	Curly hair-acral keratoderma-caries syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307766	"" []	7048685	\N	\N	EFO	11	EFO	experimental factor	Curly hair-acral keratoderma-caries syndrome
Orphanet:307773	\N	\N	"" []	Orphanet:307773	"" []	76237	\N	\N	EFO	0	EFO	Autosomal dominant diffuse mutilating palmoplantar keratoderma	Autosomal dominant diffuse mutilating palmoplantar keratoderma
Orphanet:98352	Orphanet:307773	\N	"" []	Orphanet:307773	"" []	219137	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Autosomal dominant diffuse mutilating palmoplantar keratoderma
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:307773	"" []	574404	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Autosomal dominant diffuse mutilating palmoplantar keratoderma
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:307773	"" []	1157148	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Autosomal dominant diffuse mutilating palmoplantar keratoderma
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:307773	"" []	2040194	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Autosomal dominant diffuse mutilating palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:307773	"" []	3190508	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Autosomal dominant diffuse mutilating palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:307773	"" []	4397354	\N	\N	EFO	6	EFO	Rare genetic skin disease	Autosomal dominant diffuse mutilating palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307773	"" []	5414894	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant diffuse mutilating palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307773	"" []	5414895	\N	\N	EFO	7	EFO	skin disease	Autosomal dominant diffuse mutilating palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307773	"" []	6151001	\N	\N	EFO	8	EFO	disease	Autosomal dominant diffuse mutilating palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307773	"" []	6151002	\N	\N	EFO	8	EFO	disease	Autosomal dominant diffuse mutilating palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307773	"" []	6633475	\N	\N	EFO	9	EFO	disposition	Autosomal dominant diffuse mutilating palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307773	"" []	6926021	\N	\N	EFO	10	EFO	material property	Autosomal dominant diffuse mutilating palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307773	"" []	7099245	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant diffuse mutilating palmoplantar keratoderma
Orphanet:3078	\N	\N	"" []	Orphanet:3078	"" []	76238	\N	\N	EFO	0	EFO	Severe X-linked intellectual disability, Gustavson type	Severe X-linked intellectual disability, Gustavson type
Orphanet:98464	Orphanet:3078	\N	"" []	Orphanet:3078	"" []	219138	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Severe X-linked intellectual disability, Gustavson type
Orphanet:98678	Orphanet:3078	\N	"" []	Orphanet:3078	"" []	219139	\N	\N	EFO	1	EFO	X-linked recessive optic atrophy	Severe X-linked intellectual disability, Gustavson type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3078	"" []	574405	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Severe X-linked intellectual disability, Gustavson type
Orphanet:103	Orphanet:98678	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:3078	"" []	574406	\N	\N	EFO	2	EFO	Genetic optic atrophy	Severe X-linked intellectual disability, Gustavson type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3078	"" []	1157149	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Severe X-linked intellectual disability, Gustavson type
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:3078	"" []	1157150	\N	\N	EFO	3	EFO	Optic neuropathy	Severe X-linked intellectual disability, Gustavson type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3078	"" []	2040195	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Severe X-linked intellectual disability, Gustavson type
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:3078	"" []	2040196	\N	\N	EFO	4	EFO	Rare genetic eye disease	Severe X-linked intellectual disability, Gustavson type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3078	"" []	3190509	\N	\N	EFO	5	EFO	genetic disorder	Severe X-linked intellectual disability, Gustavson type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3078	"" []	3190510	\N	\N	EFO	5	EFO	genetic disorder	Severe X-linked intellectual disability, Gustavson type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3078	"" []	3190511	\N	\N	EFO	5	EFO	eye disease	Severe X-linked intellectual disability, Gustavson type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3078	"" []	4397355	\N	\N	EFO	6	EFO	disease	Severe X-linked intellectual disability, Gustavson type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3078	"" []	4397356	\N	\N	EFO	6	EFO	disease	Severe X-linked intellectual disability, Gustavson type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3078	"" []	5414896	\N	\N	EFO	7	EFO	disposition	Severe X-linked intellectual disability, Gustavson type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3078	"" []	6151003	\N	\N	EFO	8	EFO	material property	Severe X-linked intellectual disability, Gustavson type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3078	"" []	6633476	\N	\N	EFO	9	EFO	experimental factor	Severe X-linked intellectual disability, Gustavson type
Orphanet:307804	\N	\N	"" []	Orphanet:307804	"" []	76239	\N	\N	EFO	0	EFO	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:307711	Orphanet:307804	\N	"" []	Orphanet:307804	"" []	219140	\N	\N	EFO	1	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:307804	"" []	574407	\N	\N	EFO	2	EFO	Diffuse palmoplantar keratoderma	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:307804	"" []	1157151	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:307804	"" []	2040197	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:307804	"" []	3190512	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307804	"" []	4397357	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307804	"" []	4397358	\N	\N	EFO	6	EFO	skin disease	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307804	"" []	5414897	\N	\N	EFO	7	EFO	disease	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307804	"" []	5414898	\N	\N	EFO	7	EFO	disease	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307804	"" []	6151004	\N	\N	EFO	8	EFO	disposition	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307804	"" []	6633477	\N	\N	EFO	9	EFO	material property	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307804	"" []	6926022	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:307837	\N	\N	"" []	Orphanet:307837	"" []	76240	\N	\N	EFO	0	EFO	Focal palmoplantar keratoderma	Focal palmoplantar keratoderma
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:307837	"" []	219141	\N	\N	EFO	1	EFO	Hereditary palmoplantar keratoderma	Focal palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:307837	"" []	574408	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Focal palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:307837	"" []	1157152	\N	\N	EFO	3	EFO	Rare genetic skin disease	Focal palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307837	"" []	2040198	\N	\N	EFO	4	EFO	genetic disorder	Focal palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307837	"" []	2040199	\N	\N	EFO	4	EFO	skin disease	Focal palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307837	"" []	3190513	\N	\N	EFO	5	EFO	disease	Focal palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307837	"" []	3190514	\N	\N	EFO	5	EFO	disease	Focal palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307837	"" []	4397359	\N	\N	EFO	6	EFO	disposition	Focal palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307837	"" []	5414899	\N	\N	EFO	7	EFO	material property	Focal palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307837	"" []	6151005	\N	\N	EFO	8	EFO	experimental factor	Focal palmoplantar keratoderma
Orphanet:307846	\N	\N	"" []	Orphanet:307846	"" []	76241	\N	\N	EFO	0	EFO	Isolated focal palmoplantar keratoderma	Isolated focal palmoplantar keratoderma
Orphanet:307837	Orphanet:307846	\N	"" []	Orphanet:307846	"" []	219142	\N	\N	EFO	1	EFO	Focal palmoplantar keratoderma	Isolated focal palmoplantar keratoderma
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:307846	"" []	574409	\N	\N	EFO	2	EFO	Hereditary palmoplantar keratoderma	Isolated focal palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:307846	"" []	1157153	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Isolated focal palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:307846	"" []	2040200	\N	\N	EFO	4	EFO	Rare genetic skin disease	Isolated focal palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307846	"" []	3190515	\N	\N	EFO	5	EFO	genetic disorder	Isolated focal palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307846	"" []	3190516	\N	\N	EFO	5	EFO	skin disease	Isolated focal palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307846	"" []	4397360	\N	\N	EFO	6	EFO	disease	Isolated focal palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307846	"" []	4397361	\N	\N	EFO	6	EFO	disease	Isolated focal palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307846	"" []	5414900	\N	\N	EFO	7	EFO	disposition	Isolated focal palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307846	"" []	6151006	\N	\N	EFO	8	EFO	material property	Isolated focal palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307846	"" []	6633478	\N	\N	EFO	9	EFO	experimental factor	Isolated focal palmoplantar keratoderma
Orphanet:307871	\N	\N	"" []	Orphanet:307871	"" []	76242	\N	\N	EFO	0	EFO	Disease with focal palmoplantar keratoderma as a major feature	Disease with focal palmoplantar keratoderma as a major feature
Orphanet:307837	Orphanet:307871	\N	"" []	Orphanet:307871	"" []	219143	\N	\N	EFO	1	EFO	Focal palmoplantar keratoderma	Disease with focal palmoplantar keratoderma as a major feature
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:307871	"" []	574410	\N	\N	EFO	2	EFO	Hereditary palmoplantar keratoderma	Disease with focal palmoplantar keratoderma as a major feature
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:307871	"" []	1157154	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Disease with focal palmoplantar keratoderma as a major feature
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:307871	"" []	2040201	\N	\N	EFO	4	EFO	Rare genetic skin disease	Disease with focal palmoplantar keratoderma as a major feature
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307871	"" []	3190517	\N	\N	EFO	5	EFO	genetic disorder	Disease with focal palmoplantar keratoderma as a major feature
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307871	"" []	3190518	\N	\N	EFO	5	EFO	skin disease	Disease with focal palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307871	"" []	4397362	\N	\N	EFO	6	EFO	disease	Disease with focal palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307871	"" []	4397363	\N	\N	EFO	6	EFO	disease	Disease with focal palmoplantar keratoderma as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307871	"" []	5414901	\N	\N	EFO	7	EFO	disposition	Disease with focal palmoplantar keratoderma as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307871	"" []	6151007	\N	\N	EFO	8	EFO	material property	Disease with focal palmoplantar keratoderma as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307871	"" []	6633479	\N	\N	EFO	9	EFO	experimental factor	Disease with focal palmoplantar keratoderma as a major feature
Orphanet:3079	\N	\N	"" []	Orphanet:3079	"" []	76243	\N	\N	EFO	0	EFO	Intellectual disability, Buenos-Aires type	Intellectual disability, Buenos-Aires type
Orphanet:102283	Orphanet:3079	\N	"" []	Orphanet:3079	"" []	219144	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability, Buenos-Aires type
Orphanet:183763	Orphanet:3079	\N	"" []	Orphanet:3079	"" []	219145	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability, Buenos-Aires type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3079	"" []	574411	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability, Buenos-Aires type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3079	"" []	574412	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability, Buenos-Aires type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3079	"" []	1157155	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability, Buenos-Aires type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3079	"" []	1157156	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability, Buenos-Aires type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3079	"" []	2040202	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability, Buenos-Aires type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3079	"" []	2040203	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability, Buenos-Aires type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3079	"" []	3190519	\N	\N	EFO	5	EFO	disease	Intellectual disability, Buenos-Aires type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3079	"" []	4397364	\N	\N	EFO	6	EFO	disposition	Intellectual disability, Buenos-Aires type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3079	"" []	5414902	\N	\N	EFO	7	EFO	material property	Intellectual disability, Buenos-Aires type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3079	"" []	6151008	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability, Buenos-Aires type
Orphanet:307936	\N	\N	"" []	Orphanet:307936	"" []	76244	\N	\N	EFO	0	EFO	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Orphanet:79373	Orphanet:307936	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:307936	"" []	219146	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Orphanet:98353	Orphanet:307936	\N	"" []	Orphanet:307936	"" []	219147	\N	\N	EFO	1	EFO	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:307936	"" []	574413	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:307936	"" []	574414	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Orphanet:307871	Orphanet:98353	\N	"" []	Orphanet:307936	"" []	574415	\N	\N	EFO	2	EFO	Disease with focal palmoplantar keratoderma as a major feature	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:307936	"" []	1157157	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:307936	"" []	1157158	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Orphanet:307837	Orphanet:307871	\N	"" []	Orphanet:307936	"" []	1157159	\N	\N	EFO	3	EFO	Focal palmoplantar keratoderma	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307936	"" []	2040204	\N	\N	EFO	4	EFO	genetic disorder	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307936	"" []	5414904	\N	\N	EFO	7	EFO	genetic disorder	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307936	"" []	5414905	\N	\N	EFO	7	EFO	skin disease	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:307936	"" []	2040207	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307936	"" []	5817696	\N	\N	EFO	8	EFO	disease	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307936	"" []	5817697	\N	\N	EFO	8	EFO	disease	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:307936	"" []	3190522	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307936	"" []	6410116	\N	\N	EFO	9	EFO	disposition	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:307936	"" []	4397366	\N	\N	EFO	6	EFO	Rare genetic skin disease	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307936	"" []	6807954	\N	\N	EFO	10	EFO	material property	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307936	"" []	7048686	\N	\N	EFO	11	EFO	experimental factor	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Orphanet:307967	\N	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	76245	\N	\N	EFO	0	EFO	Punctate palmoplantar keratoderma	Punctate palmoplantar keratoderma
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	219148	\N	\N	EFO	1	EFO	palmoplantar keratosis	Punctate palmoplantar keratoderma
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	219149	\N	\N	EFO	1	EFO	Hereditary palmoplantar keratoderma	Punctate palmoplantar keratoderma
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	574416	\N	\N	EFO	2	EFO	keratosis	Punctate palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	574417	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Punctate palmoplantar keratoderma
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	1157160	\N	\N	EFO	3	EFO	skin disease	Punctate palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	1157161	\N	\N	EFO	3	EFO	Rare genetic skin disease	Punctate palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	3190525	\N	\N	EFO	5	EFO	disease	Punctate palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	2040209	\N	\N	EFO	4	EFO	genetic disorder	Punctate palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	2040210	\N	\N	EFO	4	EFO	skin disease	Punctate palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	4133844	\N	\N	EFO	6	EFO	disposition	Punctate palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	3190524	\N	\N	EFO	5	EFO	disease	Punctate palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	5182553	\N	\N	EFO	7	EFO	material property	Punctate palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307967	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	5997921	\N	\N	EFO	8	EFO	experimental factor	Punctate palmoplantar keratoderma
Orphanet:307995	\N	\N	"" []	Orphanet:307995	"" []	76246	\N	\N	EFO	0	EFO	Marginal papular palmoplantar keratoderma	Marginal papular palmoplantar keratoderma
Orphanet:2338	Orphanet:307995	\N	"" []	Orphanet:307995	"" []	219150	\N	\N	EFO	1	EFO	Isolated punctate palmoplantar keratoderma	Marginal papular palmoplantar keratoderma
Orphanet:307967	Orphanet:2338	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:307995	"" []	574418	\N	\N	EFO	2	EFO	Punctate palmoplantar keratoderma	Marginal papular palmoplantar keratoderma
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:307995	"" []	1157162	\N	\N	EFO	3	EFO	palmoplantar keratosis	Marginal papular palmoplantar keratoderma
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:307995	"" []	1157163	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Marginal papular palmoplantar keratoderma
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:307995	"" []	2040211	\N	\N	EFO	4	EFO	keratosis	Marginal papular palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:307995	"" []	2040212	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Marginal papular palmoplantar keratoderma
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307995	"" []	3190526	\N	\N	EFO	5	EFO	skin disease	Marginal papular palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:307995	"" []	3190527	\N	\N	EFO	5	EFO	Rare genetic skin disease	Marginal papular palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307995	"" []	5414909	\N	\N	EFO	7	EFO	disease	Marginal papular palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:307995	"" []	4397369	\N	\N	EFO	6	EFO	genetic disorder	Marginal papular palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:307995	"" []	4397370	\N	\N	EFO	6	EFO	skin disease	Marginal papular palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:307995	"" []	5997922	\N	\N	EFO	8	EFO	disposition	Marginal papular palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:307995	"" []	5414908	\N	\N	EFO	7	EFO	disease	Marginal papular palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:307995	"" []	6551242	\N	\N	EFO	9	EFO	material property	Marginal papular palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:307995	"" []	6889364	\N	\N	EFO	10	EFO	experimental factor	Marginal papular palmoplantar keratoderma
Orphanet:308	\N	\N	"" []	Orphanet:308	"" []	76247	\N	\N	EFO	0	EFO	Unverricht-Lundborg disease	Unverricht-Lundborg disease
Orphanet:306762	Orphanet:308	\N	"" []	Orphanet:308	"" []	219151	\N	\N	EFO	1	EFO	Progressive epilepsy and/or ataxia with myoclonus as a major feature	Unverricht-Lundborg disease
Orphanet:98261	Orphanet:308	\N	"" []	Orphanet:308	"" []	219152	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Unverricht-Lundborg disease
Orphanet:306756	Orphanet:306762	\N	"" []	Orphanet:308	"" []	574419	\N	\N	EFO	2	EFO	Epilepsy and/or ataxia with myoclonus as major feature	Unverricht-Lundborg disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:308	"" []	574420	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Unverricht-Lundborg disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:308	"" []	574421	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Unverricht-Lundborg disease
Orphanet:307067	Orphanet:306756	\N	"" []	Orphanet:308	"" []	1157164	\N	\N	EFO	3	EFO	Rare genetic disease with myoclonus as a major feature	Unverricht-Lundborg disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:308	"" []	1157165	\N	\N	EFO	3	EFO	Epilepsy syndrome	Unverricht-Lundborg disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:308	"" []	1157166	\N	\N	EFO	3	EFO	Epilepsy syndrome	Unverricht-Lundborg disease
Orphanet:307064	Orphanet:307067	\N	"" []	Orphanet:308	"" []	2040213	\N	\N	EFO	4	EFO	Rare genetic myoclonus	Unverricht-Lundborg disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:308	"" []	2040214	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Unverricht-Lundborg disease
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:308	"" []	3190528	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Unverricht-Lundborg disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:308	"" []	3190529	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Unverricht-Lundborg disease
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:308	"" []	4397371	\N	\N	EFO	6	EFO	movement disorder	Unverricht-Lundborg disease
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:308	"" []	4397372	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Unverricht-Lundborg disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308	"" []	5414911	\N	\N	EFO	7	EFO	genetic disorder	Unverricht-Lundborg disease
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:308	"" []	5414910	\N	\N	EFO	7	EFO	nervous system disease	Unverricht-Lundborg disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308	"" []	5997923	\N	\N	EFO	8	EFO	disease	Unverricht-Lundborg disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308	"" []	6151011	\N	\N	EFO	8	EFO	disease	Unverricht-Lundborg disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308	"" []	6551243	\N	\N	EFO	9	EFO	disposition	Unverricht-Lundborg disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308	"" []	6889365	\N	\N	EFO	10	EFO	material property	Unverricht-Lundborg disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308	"" []	7086040	\N	\N	EFO	11	EFO	experimental factor	Unverricht-Lundborg disease
Orphanet:3080	\N	\N	"" []	Orphanet:3080	"" []	76248	\N	\N	EFO	0	EFO	Intellectual disability, Wolff type	Intellectual disability, Wolff type
Orphanet:102283	Orphanet:3080	\N	"" []	Orphanet:3080	"" []	219153	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability, Wolff type
Orphanet:183763	Orphanet:3080	\N	"" []	Orphanet:3080	"" []	219154	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability, Wolff type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3080	"" []	574422	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability, Wolff type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3080	"" []	574423	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability, Wolff type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3080	"" []	1157167	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability, Wolff type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3080	"" []	1157168	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability, Wolff type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3080	"" []	2040215	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability, Wolff type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3080	"" []	2040216	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability, Wolff type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3080	"" []	3190530	\N	\N	EFO	5	EFO	disease	Intellectual disability, Wolff type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3080	"" []	4397374	\N	\N	EFO	6	EFO	disposition	Intellectual disability, Wolff type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3080	"" []	5414913	\N	\N	EFO	7	EFO	material property	Intellectual disability, Wolff type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3080	"" []	6151013	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability, Wolff type
Orphanet:308013	\N	\N	"" []	Orphanet:308013	"" []	76249	\N	\N	EFO	0	EFO	Focal acral hyperkeratosis	Focal acral hyperkeratosis
Orphanet:307995	Orphanet:308013	\N	"" []	Orphanet:308013	"" []	219155	\N	\N	EFO	1	EFO	Marginal papular palmoplantar keratoderma	Focal acral hyperkeratosis
Orphanet:2338	Orphanet:307995	\N	"" []	Orphanet:308013	"" []	574424	\N	\N	EFO	2	EFO	Isolated punctate palmoplantar keratoderma	Focal acral hyperkeratosis
Orphanet:307967	Orphanet:2338	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:308013	"" []	1157169	\N	\N	EFO	3	EFO	Punctate palmoplantar keratoderma	Focal acral hyperkeratosis
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:308013	"" []	2040217	\N	\N	EFO	4	EFO	palmoplantar keratosis	Focal acral hyperkeratosis
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:308013	"" []	2040218	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Focal acral hyperkeratosis
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:308013	"" []	3190531	\N	\N	EFO	5	EFO	keratosis	Focal acral hyperkeratosis
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:308013	"" []	3190532	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Focal acral hyperkeratosis
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:308013	"" []	4397375	\N	\N	EFO	6	EFO	skin disease	Focal acral hyperkeratosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:308013	"" []	4397376	\N	\N	EFO	6	EFO	Rare genetic skin disease	Focal acral hyperkeratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308013	"" []	6151016	\N	\N	EFO	8	EFO	disease	Focal acral hyperkeratosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308013	"" []	5414915	\N	\N	EFO	7	EFO	genetic disorder	Focal acral hyperkeratosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:308013	"" []	5414916	\N	\N	EFO	7	EFO	skin disease	Focal acral hyperkeratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308013	"" []	6551244	\N	\N	EFO	9	EFO	disposition	Focal acral hyperkeratosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308013	"" []	6151015	\N	\N	EFO	8	EFO	disease	Focal acral hyperkeratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308013	"" []	6889366	\N	\N	EFO	10	EFO	material property	Focal acral hyperkeratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308013	"" []	7086041	\N	\N	EFO	11	EFO	experimental factor	Focal acral hyperkeratosis
Orphanet:308023	\N	\N	"" []	Orphanet:308023	"" []	76250	\N	\N	EFO	0	EFO	Disease with punctate palmoplantar keratoderma as a major feature	Disease with punctate palmoplantar keratoderma as a major feature
Orphanet:307967	Orphanet:308023	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:308023	"" []	219156	\N	\N	EFO	1	EFO	Punctate palmoplantar keratoderma	Disease with punctate palmoplantar keratoderma as a major feature
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:308023	"" []	574425	\N	\N	EFO	2	EFO	palmoplantar keratosis	Disease with punctate palmoplantar keratoderma as a major feature
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:308023	"" []	574426	\N	\N	EFO	2	EFO	Hereditary palmoplantar keratoderma	Disease with punctate palmoplantar keratoderma as a major feature
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:308023	"" []	1157170	\N	\N	EFO	3	EFO	keratosis	Disease with punctate palmoplantar keratoderma as a major feature
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:308023	"" []	1157171	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Disease with punctate palmoplantar keratoderma as a major feature
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:308023	"" []	2040219	\N	\N	EFO	4	EFO	skin disease	Disease with punctate palmoplantar keratoderma as a major feature
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:308023	"" []	2040220	\N	\N	EFO	4	EFO	Rare genetic skin disease	Disease with punctate palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308023	"" []	4397379	\N	\N	EFO	6	EFO	disease	Disease with punctate palmoplantar keratoderma as a major feature
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308023	"" []	3190534	\N	\N	EFO	5	EFO	genetic disorder	Disease with punctate palmoplantar keratoderma as a major feature
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:308023	"" []	3190535	\N	\N	EFO	5	EFO	skin disease	Disease with punctate palmoplantar keratoderma as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308023	"" []	5182554	\N	\N	EFO	7	EFO	disposition	Disease with punctate palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308023	"" []	4397378	\N	\N	EFO	6	EFO	disease	Disease with punctate palmoplantar keratoderma as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308023	"" []	5997924	\N	\N	EFO	8	EFO	material property	Disease with punctate palmoplantar keratoderma as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308023	"" []	6551245	\N	\N	EFO	9	EFO	experimental factor	Disease with punctate palmoplantar keratoderma as a major feature
Orphanet:308031	\N	\N	"" []	Orphanet:308031	"" []	76251	\N	\N	EFO	0	EFO	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Orphanet:308023	Orphanet:308031	\N	"" []	Orphanet:308031	"" []	219157	\N	\N	EFO	1	EFO	Disease with punctate palmoplantar keratoderma as a major feature	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Orphanet:307967	Orphanet:308023	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:308031	"" []	574427	\N	\N	EFO	2	EFO	Punctate palmoplantar keratoderma	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:308031	"" []	1157172	\N	\N	EFO	3	EFO	palmoplantar keratosis	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:308031	"" []	1157173	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:308031	"" []	2040221	\N	\N	EFO	4	EFO	keratosis	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:308031	"" []	2040222	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:308031	"" []	3190536	\N	\N	EFO	5	EFO	skin disease	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:308031	"" []	3190537	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308031	"" []	5414920	\N	\N	EFO	7	EFO	disease	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308031	"" []	4397381	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:308031	"" []	4397382	\N	\N	EFO	6	EFO	skin disease	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308031	"" []	5997925	\N	\N	EFO	8	EFO	disposition	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308031	"" []	5414919	\N	\N	EFO	7	EFO	disease	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308031	"" []	6551246	\N	\N	EFO	9	EFO	material property	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308031	"" []	6889367	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Orphanet:308041	\N	\N	"" []	Orphanet:308041	"" []	76252	\N	\N	EFO	0	EFO	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
Orphanet:308023	Orphanet:308041	\N	"" []	Orphanet:308041	"" []	219158	\N	\N	EFO	1	EFO	Disease with punctate palmoplantar keratoderma as a major feature	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
Orphanet:307967	Orphanet:308023	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:308041	"" []	574428	\N	\N	EFO	2	EFO	Punctate palmoplantar keratoderma	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:308041	"" []	1157174	\N	\N	EFO	3	EFO	palmoplantar keratosis	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:308041	"" []	1157175	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:308041	"" []	2040223	\N	\N	EFO	4	EFO	keratosis	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:308041	"" []	2040224	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:308041	"" []	3190538	\N	\N	EFO	5	EFO	skin disease	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:308041	"" []	3190539	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308041	"" []	5414923	\N	\N	EFO	7	EFO	disease	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308041	"" []	4397384	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:308041	"" []	4397385	\N	\N	EFO	6	EFO	skin disease	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308041	"" []	5997926	\N	\N	EFO	8	EFO	disposition	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308041	"" []	5414922	\N	\N	EFO	7	EFO	disease	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308041	"" []	6551247	\N	\N	EFO	9	EFO	material property	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308041	"" []	6889368	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
Orphanet:308166	\N	\N	"" []	Orphanet:308166	"" []	76253	\N	\N	EFO	0	EFO	Erythrokeratoderma variabilis progressiva	Erythrokeratoderma variabilis progressiva
Orphanet:183438	Orphanet:308166	\N	"" []	Orphanet:308166	"" []	219159	\N	\N	EFO	1	EFO	Genetic erythrokeratoderma	Erythrokeratoderma variabilis progressiva
Orphanet:183426	Orphanet:183438	\N	"" []	Orphanet:308166	"" []	574429	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Erythrokeratoderma variabilis progressiva
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:308166	"" []	1157176	\N	\N	EFO	3	EFO	Rare genetic skin disease	Erythrokeratoderma variabilis progressiva
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308166	"" []	2040225	\N	\N	EFO	4	EFO	genetic disorder	Erythrokeratoderma variabilis progressiva
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:308166	"" []	2040226	\N	\N	EFO	4	EFO	skin disease	Erythrokeratoderma variabilis progressiva
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308166	"" []	3190540	\N	\N	EFO	5	EFO	disease	Erythrokeratoderma variabilis progressiva
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308166	"" []	3190541	\N	\N	EFO	5	EFO	disease	Erythrokeratoderma variabilis progressiva
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308166	"" []	4397386	\N	\N	EFO	6	EFO	disposition	Erythrokeratoderma variabilis progressiva
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308166	"" []	5414924	\N	\N	EFO	7	EFO	material property	Erythrokeratoderma variabilis progressiva
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308166	"" []	6151020	\N	\N	EFO	8	EFO	experimental factor	Erythrokeratoderma variabilis progressiva
Orphanet:3082	\N	\N	"" []	Orphanet:3082	"" []	76254	\N	\N	EFO	0	EFO	Intellectual disability - polydactyly - uncombable hair	Intellectual disability - polydactyly - uncombable hair
Orphanet:102283	Orphanet:3082	\N	"" []	Orphanet:3082	"" []	219160	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability - polydactyly - uncombable hair
Orphanet:183763	Orphanet:3082	\N	"" []	Orphanet:3082	"" []	219161	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - polydactyly - uncombable hair
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3082	"" []	574430	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability - polydactyly - uncombable hair
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3082	"" []	574431	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - polydactyly - uncombable hair
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3082	"" []	1157177	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability - polydactyly - uncombable hair
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3082	"" []	1157178	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - polydactyly - uncombable hair
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3082	"" []	2040227	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - polydactyly - uncombable hair
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3082	"" []	2040228	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - polydactyly - uncombable hair
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3082	"" []	3190542	\N	\N	EFO	5	EFO	disease	Intellectual disability - polydactyly - uncombable hair
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3082	"" []	4397387	\N	\N	EFO	6	EFO	disposition	Intellectual disability - polydactyly - uncombable hair
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3082	"" []	5414925	\N	\N	EFO	7	EFO	material property	Intellectual disability - polydactyly - uncombable hair
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3082	"" []	6151021	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability - polydactyly - uncombable hair
Orphanet:308380	\N	\N	"" []	Orphanet:308380	"" []	76255	\N	\N	EFO	0	EFO	Methylcobalamin deficiency type cblDv1	Methylcobalamin deficiency type cblDv1
Orphanet:622	Orphanet:308380	\N	"v1)." []	Orphanet:308380	"" []	219162	\N	\N	EFO	1	EFO	Homocystinuria without methylmalonic aciduria	Methylcobalamin deficiency type cblDv1
Orphanet:68385	Orphanet:622	\N	"" []	Orphanet:308380	"" []	574432	\N	\N	EFO	2	EFO	Neurometabolic disease	Methylcobalamin deficiency type cblDv1
Orphanet:79171	Orphanet:622	\N	"" []	Orphanet:308380	"" []	574433	\N	\N	EFO	2	EFO	Disorder of cobalamin metabolism and transport	Methylcobalamin deficiency type cblDv1
Orphanet:79173	Orphanet:622	\N	"" []	Orphanet:308380	"" []	574434	\N	\N	EFO	2	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Methylcobalamin deficiency type cblDv1
Orphanet:98396	Orphanet:622	\N	"" []	Orphanet:308380	"" []	574435	\N	\N	EFO	2	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Methylcobalamin deficiency type cblDv1
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:308380	"" []	1157179	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Methylcobalamin deficiency type cblDv1
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:308380	"" []	1157180	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Methylcobalamin deficiency type cblDv1
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:308380	"" []	1157181	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Methylcobalamin deficiency type cblDv1
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:308380	"" []	1157182	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Methylcobalamin deficiency type cblDv1
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:308380	"" []	1157183	\N	\N	EFO	3	EFO	Constitutional deficiency anemia	Methylcobalamin deficiency type cblDv1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308380	"" []	2040229	\N	\N	EFO	4	EFO	genetic disorder	Methylcobalamin deficiency type cblDv1
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308380	"" []	2040230	\N	\N	EFO	4	EFO	metabolic disease	Methylcobalamin deficiency type cblDv1
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:308380	"" []	2040231	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Methylcobalamin deficiency type cblDv1
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:308380	"" []	2040232	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Methylcobalamin deficiency type cblDv1
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:308380	"" []	2040233	\N	\N	EFO	4	EFO	Rare constitutional anemia	Methylcobalamin deficiency type cblDv1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308380	"" []	5182556	\N	\N	EFO	7	EFO	disease	Methylcobalamin deficiency type cblDv1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308380	"" []	5182557	\N	\N	EFO	7	EFO	disease	Methylcobalamin deficiency type cblDv1
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:308380	"" []	3190545	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylcobalamin deficiency type cblDv1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308380	"" []	4397389	\N	\N	EFO	6	EFO	genetic disorder	Methylcobalamin deficiency type cblDv1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308380	"" []	4397390	\N	\N	EFO	6	EFO	metabolic disease	Methylcobalamin deficiency type cblDv1
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:308380	"" []	3190548	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Methylcobalamin deficiency type cblDv1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308380	"" []	5877292	\N	\N	EFO	8	EFO	disposition	Methylcobalamin deficiency type cblDv1
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308380	"" []	4397393	\N	\N	EFO	6	EFO	genetic disorder	Methylcobalamin deficiency type cblDv1
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:308380	"" []	4397394	\N	\N	EFO	6	EFO	hematological system disease	Methylcobalamin deficiency type cblDv1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308380	"" []	6470520	\N	\N	EFO	9	EFO	material property	Methylcobalamin deficiency type cblDv1
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308380	"" []	5414927	\N	\N	EFO	7	EFO	disease	Methylcobalamin deficiency type cblDv1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308380	"" []	6848577	\N	\N	EFO	10	EFO	experimental factor	Methylcobalamin deficiency type cblDv1
Orphanet:308386	\N	\N	"" []	Orphanet:308386	"" []	76256	\N	\N	EFO	0	EFO	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:99732	Orphanet:308386	\N	"" []	Orphanet:308386	"" []	219163	\N	\N	EFO	1	EFO	Sulfite oxidase deficiency due to molybdenum cofactor deficiency	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:309833	Orphanet:99732	\N	"" []	Orphanet:308386	"" []	574436	\N	\N	EFO	2	EFO	Disorder of other vitamins and cofactors metabolism and transport	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:833	Orphanet:99732	\N	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	Orphanet:308386	"" []	574437	\N	\N	EFO	2	EFO	Encephalopathy due to sulfite oxidase deficiency	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:308386	"" []	1157184	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:108987	Orphanet:833	\N	"" []	Orphanet:308386	"" []	1157185	\N	\N	EFO	3	EFO	Syndromic developmental defect of the eye	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:139009	Orphanet:833	\N	"" []	Orphanet:308386	"" []	1157186	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:68385	Orphanet:833	\N	"" []	Orphanet:308386	"" []	1157187	\N	\N	EFO	3	EFO	Neurometabolic disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:79173	Orphanet:833	\N	"" []	Orphanet:308386	"" []	1157188	\N	\N	EFO	3	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:98653	Orphanet:833	\N	"" []	Orphanet:308386	"" []	1157189	\N	\N	EFO	3	EFO	Lens position anomaly	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:308386	"" []	2040234	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:308386	"" []	2040235	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:308386	"" []	2040236	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:308386	"" []	2040237	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:308386	"" []	2040238	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:308386	"" []	2040239	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:308386	"" []	3190549	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:308386	"" []	3190550	\N	\N	EFO	5	EFO	Rare genetic eye disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:308386	"" []	3190551	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308386	"" []	4397399	\N	\N	EFO	6	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308386	"" []	3190553	\N	\N	EFO	5	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:308386	"" []	3190554	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:308386	"" []	3190555	\N	\N	EFO	5	EFO	Rare genetic eye disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308386	"" []	4397395	\N	\N	EFO	6	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308386	"" []	4397396	\N	\N	EFO	6	EFO	metabolic disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308386	"" []	4397397	\N	\N	EFO	6	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:308386	"" []	4397398	\N	\N	EFO	6	EFO	eye disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308386	"" []	5182558	\N	\N	EFO	7	EFO	disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308386	"" []	5414928	\N	\N	EFO	7	EFO	disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308386	"" []	5414929	\N	\N	EFO	7	EFO	disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308386	"" []	5997928	\N	\N	EFO	8	EFO	disposition	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308386	"" []	6551249	\N	\N	EFO	9	EFO	material property	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308386	"" []	6889369	\N	\N	EFO	10	EFO	experimental factor	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Orphanet:308393	\N	\N	"" []	Orphanet:308393	"" []	76257	\N	\N	EFO	0	EFO	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:99732	Orphanet:308393	\N	"" []	Orphanet:308393	"" []	219164	\N	\N	EFO	1	EFO	Sulfite oxidase deficiency due to molybdenum cofactor deficiency	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:309833	Orphanet:99732	\N	"" []	Orphanet:308393	"" []	574438	\N	\N	EFO	2	EFO	Disorder of other vitamins and cofactors metabolism and transport	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:833	Orphanet:99732	\N	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	Orphanet:308393	"" []	574439	\N	\N	EFO	2	EFO	Encephalopathy due to sulfite oxidase deficiency	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:308393	"" []	1157190	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:108987	Orphanet:833	\N	"" []	Orphanet:308393	"" []	1157191	\N	\N	EFO	3	EFO	Syndromic developmental defect of the eye	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:139009	Orphanet:833	\N	"" []	Orphanet:308393	"" []	1157192	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:68385	Orphanet:833	\N	"" []	Orphanet:308393	"" []	1157193	\N	\N	EFO	3	EFO	Neurometabolic disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:79173	Orphanet:833	\N	"" []	Orphanet:308393	"" []	1157194	\N	\N	EFO	3	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:98653	Orphanet:833	\N	"" []	Orphanet:308393	"" []	1157195	\N	\N	EFO	3	EFO	Lens position anomaly	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:308393	"" []	2040240	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:308393	"" []	2040241	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:308393	"" []	2040242	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:308393	"" []	2040243	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:308393	"" []	2040244	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:308393	"" []	2040245	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:308393	"" []	3190556	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:308393	"" []	3190557	\N	\N	EFO	5	EFO	Rare genetic eye disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:308393	"" []	3190558	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308393	"" []	4397405	\N	\N	EFO	6	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308393	"" []	3190560	\N	\N	EFO	5	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:308393	"" []	3190561	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:308393	"" []	3190562	\N	\N	EFO	5	EFO	Rare genetic eye disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308393	"" []	4397401	\N	\N	EFO	6	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308393	"" []	4397402	\N	\N	EFO	6	EFO	metabolic disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308393	"" []	4397403	\N	\N	EFO	6	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:308393	"" []	4397404	\N	\N	EFO	6	EFO	eye disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308393	"" []	5182559	\N	\N	EFO	7	EFO	disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308393	"" []	5414931	\N	\N	EFO	7	EFO	disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308393	"" []	5414932	\N	\N	EFO	7	EFO	disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308393	"" []	5997929	\N	\N	EFO	8	EFO	disposition	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308393	"" []	6551250	\N	\N	EFO	9	EFO	material property	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308393	"" []	6889370	\N	\N	EFO	10	EFO	experimental factor	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Orphanet:308400	\N	\N	"" []	Orphanet:308400	"" []	76258	\N	\N	EFO	0	EFO	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:99732	Orphanet:308400	\N	"" []	Orphanet:308400	"" []	219165	\N	\N	EFO	1	EFO	Sulfite oxidase deficiency due to molybdenum cofactor deficiency	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:309833	Orphanet:99732	\N	"" []	Orphanet:308400	"" []	574440	\N	\N	EFO	2	EFO	Disorder of other vitamins and cofactors metabolism and transport	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:833	Orphanet:99732	\N	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	Orphanet:308400	"" []	574441	\N	\N	EFO	2	EFO	Encephalopathy due to sulfite oxidase deficiency	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:308400	"" []	1157196	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:108987	Orphanet:833	\N	"" []	Orphanet:308400	"" []	1157197	\N	\N	EFO	3	EFO	Syndromic developmental defect of the eye	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:139009	Orphanet:833	\N	"" []	Orphanet:308400	"" []	1157198	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:68385	Orphanet:833	\N	"" []	Orphanet:308400	"" []	1157199	\N	\N	EFO	3	EFO	Neurometabolic disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:79173	Orphanet:833	\N	"" []	Orphanet:308400	"" []	1157200	\N	\N	EFO	3	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:98653	Orphanet:833	\N	"" []	Orphanet:308400	"" []	1157201	\N	\N	EFO	3	EFO	Lens position anomaly	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:308400	"" []	2040246	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:308400	"" []	2040247	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:308400	"" []	2040248	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:308400	"" []	2040249	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:308400	"" []	2040250	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:308400	"" []	2040251	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:308400	"" []	3190563	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:308400	"" []	3190564	\N	\N	EFO	5	EFO	Rare genetic eye disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:308400	"" []	3190565	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308400	"" []	4397411	\N	\N	EFO	6	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308400	"" []	3190567	\N	\N	EFO	5	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:308400	"" []	3190568	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:308400	"" []	3190569	\N	\N	EFO	5	EFO	Rare genetic eye disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308400	"" []	4397407	\N	\N	EFO	6	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308400	"" []	4397408	\N	\N	EFO	6	EFO	metabolic disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308400	"" []	4397409	\N	\N	EFO	6	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:308400	"" []	4397410	\N	\N	EFO	6	EFO	eye disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308400	"" []	5182560	\N	\N	EFO	7	EFO	disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308400	"" []	5414934	\N	\N	EFO	7	EFO	disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308400	"" []	5414935	\N	\N	EFO	7	EFO	disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308400	"" []	5997930	\N	\N	EFO	8	EFO	disposition	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308400	"" []	6551251	\N	\N	EFO	9	EFO	material property	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308400	"" []	6889371	\N	\N	EFO	10	EFO	experimental factor	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Orphanet:308407	\N	\N	"" []	Orphanet:308407	"" []	76259	\N	\N	EFO	0	EFO	Disorder of beta and omega amino acid metabolism	Disorder of beta and omega amino acid metabolism
Orphanet:79062	Orphanet:308407	\N	"" []	Orphanet:308407	"" []	219166	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of beta and omega amino acid metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:308407	"" []	574442	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of beta and omega amino acid metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308407	"" []	1157202	\N	\N	EFO	3	EFO	genetic disorder	Disorder of beta and omega amino acid metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308407	"" []	1157203	\N	\N	EFO	3	EFO	metabolic disease	Disorder of beta and omega amino acid metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308407	"" []	2040252	\N	\N	EFO	4	EFO	disease	Disorder of beta and omega amino acid metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308407	"" []	2040253	\N	\N	EFO	4	EFO	disease	Disorder of beta and omega amino acid metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308407	"" []	3190570	\N	\N	EFO	5	EFO	disposition	Disorder of beta and omega amino acid metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308407	"" []	4397413	\N	\N	EFO	6	EFO	material property	Disorder of beta and omega amino acid metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308407	"" []	5414937	\N	\N	EFO	7	EFO	experimental factor	Disorder of beta and omega amino acid metabolism
Orphanet:308410	\N	\N	"" []	Orphanet:308410	"" []	76260	\N	\N	EFO	0	EFO	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Orphanet:79197	Orphanet:308410	\N	"" []	Orphanet:308410	"" []	219167	\N	\N	EFO	1	EFO	Disorder of branched-chain amino acid metabolism	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Orphanet:79062	Orphanet:79197	\N	"" []	Orphanet:308410	"" []	574443	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:308410	"" []	1157204	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308410	"" []	2040254	\N	\N	EFO	4	EFO	genetic disorder	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308410	"" []	2040255	\N	\N	EFO	4	EFO	metabolic disease	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308410	"" []	3190571	\N	\N	EFO	5	EFO	disease	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308410	"" []	3190572	\N	\N	EFO	5	EFO	disease	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308410	"" []	4397414	\N	\N	EFO	6	EFO	disposition	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308410	"" []	5414938	\N	\N	EFO	7	EFO	material property	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308410	"" []	6151026	\N	\N	EFO	8	EFO	experimental factor	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Orphanet:308425	\N	\N	"" []	Orphanet:308425	"" []	76261	\N	\N	EFO	0	EFO	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Orphanet:293355	Orphanet:308425	\N	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	Orphanet:308425	"" []	219168	\N	\N	EFO	1	EFO	Methylmalonic acidemia without homocystinuria	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Orphanet:79163	Orphanet:293355	\N	"" []	Orphanet:308425	"" []	574444	\N	\N	EFO	2	EFO	Classic organic aciduria	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:308425	"" []	1157205	\N	\N	EFO	3	EFO	Organic aciduria	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:308425	"" []	2040256	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:308425	"" []	3190573	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308425	"" []	4397415	\N	\N	EFO	6	EFO	genetic disorder	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308425	"" []	4397416	\N	\N	EFO	6	EFO	metabolic disease	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308425	"" []	5414939	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308425	"" []	5414940	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308425	"" []	6151027	\N	\N	EFO	8	EFO	disposition	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308425	"" []	6633488	\N	\N	EFO	9	EFO	material property	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308425	"" []	6926025	\N	\N	EFO	10	EFO	experimental factor	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Orphanet:308442	\N	\N	"" []	Orphanet:308442	"" []	76262	\N	\N	EFO	0	EFO	Vitamin B12-responsive methylmalonic acidemia, type cblDv2	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:28	Orphanet:308442	\N	"v2)." []	Orphanet:308442	"" []	219169	\N	\N	EFO	1	EFO	Vitamin B12-responsive methylmalonic acidemia	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:293355	Orphanet:28	\N	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	Orphanet:308442	"" []	574445	\N	\N	EFO	2	EFO	Methylmalonic acidemia without homocystinuria	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:79171	Orphanet:28	\N	"" []	Orphanet:308442	"" []	574446	\N	\N	EFO	2	EFO	Disorder of cobalamin metabolism and transport	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:93593	Orphanet:28	\N	"" []	Orphanet:308442	"" []	574447	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:79163	Orphanet:293355	\N	"" []	Orphanet:308442	"" []	1157206	\N	\N	EFO	3	EFO	Classic organic aciduria	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:308442	"" []	1157207	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:308442	"" []	1157208	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:308442	"" []	1157209	\N	\N	EFO	3	EFO	Rare genetic renal disease	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:308442	"" []	2040257	\N	\N	EFO	4	EFO	Organic aciduria	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308442	"" []	2040258	\N	\N	EFO	4	EFO	metabolic disease	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:308442	"" []	2040259	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308442	"" []	2040260	\N	\N	EFO	4	EFO	genetic disorder	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:308442	"" []	3190574	\N	\N	EFO	5	EFO	Disorder of amino acid and other organic acid metabolism	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308442	"" []	5997932	\N	\N	EFO	8	EFO	disease	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:308442	"" []	3190576	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308442	"" []	5997931	\N	\N	EFO	8	EFO	disease	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:308442	"" []	4397417	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308442	"" []	6410117	\N	\N	EFO	9	EFO	disposition	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308442	"" []	5414941	\N	\N	EFO	7	EFO	genetic disorder	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308442	"" []	5414942	\N	\N	EFO	7	EFO	metabolic disease	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308442	"" []	6807955	\N	\N	EFO	10	EFO	material property	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308442	"" []	7048687	\N	\N	EFO	11	EFO	experimental factor	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Orphanet:308448	\N	\N	"" []	Orphanet:308448	"" []	76263	\N	\N	EFO	0	EFO	Aminoacylase deficiency	Aminoacylase deficiency
Orphanet:79158	Orphanet:308448	\N	"" []	Orphanet:308448	"" []	219170	\N	\N	EFO	1	EFO	Cerebral organic aciduria	Aminoacylase deficiency
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:308448	"" []	574448	\N	\N	EFO	2	EFO	Organic aciduria	Aminoacylase deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:308448	"" []	1157210	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Aminoacylase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:308448	"" []	2040261	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Aminoacylase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308448	"" []	3190578	\N	\N	EFO	5	EFO	genetic disorder	Aminoacylase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308448	"" []	3190579	\N	\N	EFO	5	EFO	metabolic disease	Aminoacylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308448	"" []	4397421	\N	\N	EFO	6	EFO	disease	Aminoacylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308448	"" []	4397422	\N	\N	EFO	6	EFO	disease	Aminoacylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308448	"" []	5414946	\N	\N	EFO	7	EFO	disposition	Aminoacylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308448	"" []	6151029	\N	\N	EFO	8	EFO	material property	Aminoacylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308448	"" []	6633489	\N	\N	EFO	9	EFO	experimental factor	Aminoacylase deficiency
Orphanet:308451	\N	\N	"" []	Orphanet:308451	"" []	76264	\N	\N	EFO	0	EFO	Disorder of neutral amino acid transport	Disorder of neutral amino acid transport
Orphanet:79166	Orphanet:308451	\N	"" []	Orphanet:308451	"" []	219171	\N	\N	EFO	1	EFO	Disorder of amino acid absorption and transport	Disorder of neutral amino acid transport
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:308451	"" []	574449	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of neutral amino acid transport
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:308451	"" []	1157211	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of neutral amino acid transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308451	"" []	2040262	\N	\N	EFO	4	EFO	genetic disorder	Disorder of neutral amino acid transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308451	"" []	2040263	\N	\N	EFO	4	EFO	metabolic disease	Disorder of neutral amino acid transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308451	"" []	3190580	\N	\N	EFO	5	EFO	disease	Disorder of neutral amino acid transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308451	"" []	3190581	\N	\N	EFO	5	EFO	disease	Disorder of neutral amino acid transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308451	"" []	4397423	\N	\N	EFO	6	EFO	disposition	Disorder of neutral amino acid transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308451	"" []	5414947	\N	\N	EFO	7	EFO	material property	Disorder of neutral amino acid transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308451	"" []	6151030	\N	\N	EFO	8	EFO	experimental factor	Disorder of neutral amino acid transport
Orphanet:308459	\N	\N	"" []	Orphanet:308459	"" []	76265	\N	\N	EFO	0	EFO	Disorder of glycolysis	Disorder of glycolysis
Orphanet:79161	Orphanet:308459	\N	"" []	Orphanet:308459	"" []	219172	\N	\N	EFO	1	EFO	Disorder of carbohydrate metabolism	Disorder of glycolysis
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308459	"" []	574450	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of glycolysis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308459	"" []	1157212	\N	\N	EFO	3	EFO	genetic disorder	Disorder of glycolysis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308459	"" []	1157213	\N	\N	EFO	3	EFO	metabolic disease	Disorder of glycolysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308459	"" []	2040264	\N	\N	EFO	4	EFO	disease	Disorder of glycolysis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308459	"" []	2040265	\N	\N	EFO	4	EFO	disease	Disorder of glycolysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308459	"" []	3190582	\N	\N	EFO	5	EFO	disposition	Disorder of glycolysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308459	"" []	4397424	\N	\N	EFO	6	EFO	material property	Disorder of glycolysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308459	"" []	5414948	\N	\N	EFO	7	EFO	experimental factor	Disorder of glycolysis
Orphanet:308463	\N	\N	"" []	Orphanet:308463	"" []	76266	\N	\N	EFO	0	EFO	Disorder of fructose metabolism	Disorder of fructose metabolism
Orphanet:79161	Orphanet:308463	\N	"" []	Orphanet:308463	"" []	219173	\N	\N	EFO	1	EFO	Disorder of carbohydrate metabolism	Disorder of fructose metabolism
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308463	"" []	574451	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of fructose metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308463	"" []	1157214	\N	\N	EFO	3	EFO	genetic disorder	Disorder of fructose metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308463	"" []	1157215	\N	\N	EFO	3	EFO	metabolic disease	Disorder of fructose metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308463	"" []	2040266	\N	\N	EFO	4	EFO	disease	Disorder of fructose metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308463	"" []	2040267	\N	\N	EFO	4	EFO	disease	Disorder of fructose metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308463	"" []	3190583	\N	\N	EFO	5	EFO	disposition	Disorder of fructose metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308463	"" []	4397425	\N	\N	EFO	6	EFO	material property	Disorder of fructose metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308463	"" []	5414949	\N	\N	EFO	7	EFO	experimental factor	Disorder of fructose metabolism
Orphanet:308467	\N	\N	"" []	Orphanet:308467	"" []	76267	\N	\N	EFO	0	EFO	Disorder of galactose metabolism	Disorder of galactose metabolism
Orphanet:79161	Orphanet:308467	\N	"" []	Orphanet:308467	"" []	219174	\N	\N	EFO	1	EFO	Disorder of carbohydrate metabolism	Disorder of galactose metabolism
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308467	"" []	574452	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of galactose metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308467	"" []	1157216	\N	\N	EFO	3	EFO	genetic disorder	Disorder of galactose metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308467	"" []	1157217	\N	\N	EFO	3	EFO	metabolic disease	Disorder of galactose metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308467	"" []	2040268	\N	\N	EFO	4	EFO	disease	Disorder of galactose metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308467	"" []	2040269	\N	\N	EFO	4	EFO	disease	Disorder of galactose metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308467	"" []	3190584	\N	\N	EFO	5	EFO	disposition	Disorder of galactose metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308467	"" []	4397426	\N	\N	EFO	6	EFO	material property	Disorder of galactose metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308467	"" []	5414950	\N	\N	EFO	7	EFO	experimental factor	Disorder of galactose metabolism
Orphanet:308473	\N	\N	"" []	Orphanet:308473	"" []	76268	\N	\N	EFO	0	EFO	Erythrocyte galactose epimerase deficiency	Erythrocyte galactose epimerase deficiency
Orphanet:79238	Orphanet:308473	\N	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	Orphanet:308473	"" []	219175	\N	\N	EFO	1	EFO	Galactose epimerase deficiency	Erythrocyte galactose epimerase deficiency
Orphanet:352	Orphanet:79238	\N	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	Orphanet:308473	"" []	574453	\N	\N	EFO	2	EFO	Galactosemia	Erythrocyte galactose epimerase deficiency
Orphanet:101940	Orphanet:352	\N	"" []	Orphanet:308473	"" []	1157218	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Erythrocyte galactose epimerase deficiency
Orphanet:308467	Orphanet:352	\N	"" []	Orphanet:308473	"" []	1157219	\N	\N	EFO	3	EFO	Disorder of galactose metabolism	Erythrocyte galactose epimerase deficiency
Orphanet:93593	Orphanet:352	\N	"" []	Orphanet:308473	"" []	1157220	\N	\N	EFO	3	EFO	Nephropathy secondary to a storage or other metabolic disease	Erythrocyte galactose epimerase deficiency
Orphanet:98644	Orphanet:352	\N	"" []	Orphanet:308473	"" []	1157221	\N	\N	EFO	3	EFO	Cataract associated with a metabolic disease	Erythrocyte galactose epimerase deficiency
Orphanet:98712	Orphanet:352	\N	"" []	Orphanet:308473	"" []	1157222	\N	\N	EFO	3	EFO	Metabolic disease with cataract	Erythrocyte galactose epimerase deficiency
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:308473	"" []	2040270	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Erythrocyte galactose epimerase deficiency
Orphanet:79161	Orphanet:308467	\N	"" []	Orphanet:308473	"" []	2040271	\N	\N	EFO	4	EFO	Disorder of carbohydrate metabolism	Erythrocyte galactose epimerase deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:308473	"" []	2040272	\N	\N	EFO	4	EFO	Rare genetic renal disease	Erythrocyte galactose epimerase deficiency
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:308473	"" []	2040273	\N	\N	EFO	4	EFO	Systemic disease with cataract	Erythrocyte galactose epimerase deficiency
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:308473	"" []	2040274	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	Erythrocyte galactose epimerase deficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:308473	"" []	3190585	\N	\N	EFO	5	EFO	digestive system disease	Erythrocyte galactose epimerase deficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308473	"" []	3190586	\N	\N	EFO	5	EFO	genetic disorder	Erythrocyte galactose epimerase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308473	"" []	3190587	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Erythrocyte galactose epimerase deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308473	"" []	3190588	\N	\N	EFO	5	EFO	genetic disorder	Erythrocyte galactose epimerase deficiency
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:308473	"" []	3190589	\N	\N	EFO	5	EFO	Syndromic cataract	Erythrocyte galactose epimerase deficiency
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:308473	"" []	3190590	\N	\N	EFO	5	EFO	Rare genetic eye disease	Erythrocyte galactose epimerase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308473	"" []	4397427	\N	\N	EFO	6	EFO	disease	Erythrocyte galactose epimerase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308473	"" []	6807956	\N	\N	EFO	10	EFO	disease	Erythrocyte galactose epimerase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308473	"" []	4397429	\N	\N	EFO	6	EFO	genetic disorder	Erythrocyte galactose epimerase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308473	"" []	4397430	\N	\N	EFO	6	EFO	metabolic disease	Erythrocyte galactose epimerase deficiency
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:308473	"" []	4397431	\N	\N	EFO	6	EFO	Rare cataract	Erythrocyte galactose epimerase deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308473	"" []	6633491	\N	\N	EFO	9	EFO	genetic disorder	Erythrocyte galactose epimerase deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:308473	"" []	6633492	\N	\N	EFO	9	EFO	eye disease	Erythrocyte galactose epimerase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308473	"" []	7029920	\N	\N	EFO	11	EFO	disposition	Erythrocyte galactose epimerase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308473	"" []	5414953	\N	\N	EFO	7	EFO	disease	Erythrocyte galactose epimerase deficiency
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:308473	"" []	5414954	\N	\N	EFO	7	EFO	Genetic lens and zonula anomaly	Erythrocyte galactose epimerase deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308473	"" []	6807957	\N	\N	EFO	10	EFO	disease	Erythrocyte galactose epimerase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308473	"" []	7181784	\N	\N	EFO	12	EFO	material property	Erythrocyte galactose epimerase deficiency
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:308473	"" []	6151032	\N	\N	EFO	8	EFO	Rare genetic eye disease	Erythrocyte galactose epimerase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308473	"" []	7279095	\N	\N	EFO	13	EFO	experimental factor	Erythrocyte galactose epimerase deficiency
Orphanet:308487	\N	\N	"" []	Orphanet:308487	"" []	76269	\N	\N	EFO	0	EFO	Generalized galactose epimerase deficiency	Generalized galactose epimerase deficiency
Orphanet:79238	Orphanet:308487	\N	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	Orphanet:308487	"" []	219176	\N	\N	EFO	1	EFO	Galactose epimerase deficiency	Generalized galactose epimerase deficiency
Orphanet:352	Orphanet:79238	\N	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	Orphanet:308487	"" []	574454	\N	\N	EFO	2	EFO	Galactosemia	Generalized galactose epimerase deficiency
Orphanet:101940	Orphanet:352	\N	"" []	Orphanet:308487	"" []	1157223	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Generalized galactose epimerase deficiency
Orphanet:308467	Orphanet:352	\N	"" []	Orphanet:308487	"" []	1157224	\N	\N	EFO	3	EFO	Disorder of galactose metabolism	Generalized galactose epimerase deficiency
Orphanet:93593	Orphanet:352	\N	"" []	Orphanet:308487	"" []	1157225	\N	\N	EFO	3	EFO	Nephropathy secondary to a storage or other metabolic disease	Generalized galactose epimerase deficiency
Orphanet:98644	Orphanet:352	\N	"" []	Orphanet:308487	"" []	1157226	\N	\N	EFO	3	EFO	Cataract associated with a metabolic disease	Generalized galactose epimerase deficiency
Orphanet:98712	Orphanet:352	\N	"" []	Orphanet:308487	"" []	1157227	\N	\N	EFO	3	EFO	Metabolic disease with cataract	Generalized galactose epimerase deficiency
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:308487	"" []	2040275	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Generalized galactose epimerase deficiency
Orphanet:79161	Orphanet:308467	\N	"" []	Orphanet:308487	"" []	2040276	\N	\N	EFO	4	EFO	Disorder of carbohydrate metabolism	Generalized galactose epimerase deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:308487	"" []	2040277	\N	\N	EFO	4	EFO	Rare genetic renal disease	Generalized galactose epimerase deficiency
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:308487	"" []	2040278	\N	\N	EFO	4	EFO	Systemic disease with cataract	Generalized galactose epimerase deficiency
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:308487	"" []	2040279	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	Generalized galactose epimerase deficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:308487	"" []	3190591	\N	\N	EFO	5	EFO	digestive system disease	Generalized galactose epimerase deficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308487	"" []	3190592	\N	\N	EFO	5	EFO	genetic disorder	Generalized galactose epimerase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308487	"" []	3190593	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Generalized galactose epimerase deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308487	"" []	3190594	\N	\N	EFO	5	EFO	genetic disorder	Generalized galactose epimerase deficiency
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:308487	"" []	3190595	\N	\N	EFO	5	EFO	Syndromic cataract	Generalized galactose epimerase deficiency
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:308487	"" []	3190596	\N	\N	EFO	5	EFO	Rare genetic eye disease	Generalized galactose epimerase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308487	"" []	4397434	\N	\N	EFO	6	EFO	disease	Generalized galactose epimerase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308487	"" []	6807958	\N	\N	EFO	10	EFO	disease	Generalized galactose epimerase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308487	"" []	4397436	\N	\N	EFO	6	EFO	genetic disorder	Generalized galactose epimerase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308487	"" []	4397437	\N	\N	EFO	6	EFO	metabolic disease	Generalized galactose epimerase deficiency
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:308487	"" []	4397438	\N	\N	EFO	6	EFO	Rare cataract	Generalized galactose epimerase deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308487	"" []	6633494	\N	\N	EFO	9	EFO	genetic disorder	Generalized galactose epimerase deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:308487	"" []	6633495	\N	\N	EFO	9	EFO	eye disease	Generalized galactose epimerase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308487	"" []	7029921	\N	\N	EFO	11	EFO	disposition	Generalized galactose epimerase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308487	"" []	5414958	\N	\N	EFO	7	EFO	disease	Generalized galactose epimerase deficiency
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:308487	"" []	5414959	\N	\N	EFO	7	EFO	Genetic lens and zonula anomaly	Generalized galactose epimerase deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308487	"" []	6807959	\N	\N	EFO	10	EFO	disease	Generalized galactose epimerase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308487	"" []	7181785	\N	\N	EFO	12	EFO	material property	Generalized galactose epimerase deficiency
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:308487	"" []	6151034	\N	\N	EFO	8	EFO	Rare genetic eye disease	Generalized galactose epimerase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308487	"" []	7279096	\N	\N	EFO	13	EFO	experimental factor	Generalized galactose epimerase deficiency
Orphanet:3085	\N	\N	"" []	Orphanet:3085	"" []	76270	\N	\N	EFO	0	EFO	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
Orphanet:90642	Orphanet:3085	\N	"" []	Orphanet:3085	"" []	219177	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
Orphanet:98661	Orphanet:3085	\N	"" []	Orphanet:3085	"" []	219178	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3085	"" []	574455	\N	\N	EFO	2	EFO	Rare genetic deafness	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:3085	"" []	574456	\N	\N	EFO	2	EFO	Retinal dystrophy	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3085	"" []	1157228	\N	\N	EFO	3	EFO	genetic disorder	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3085	"" []	1157229	\N	\N	EFO	3	EFO	auditory system disease	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:3085	"" []	1157230	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3085	"" []	4397443	\N	\N	EFO	6	EFO	disease	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3085	"" []	2040281	\N	\N	EFO	4	EFO	sensory system disease	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:3085	"" []	2040282	\N	\N	EFO	4	EFO	Rare genetic eye disease	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3085	"" []	5059963	\N	\N	EFO	7	EFO	disposition	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3085	"" []	3190598	\N	\N	EFO	5	EFO	nervous system disease	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3085	"" []	3190599	\N	\N	EFO	5	EFO	genetic disorder	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3085	"" []	3190600	\N	\N	EFO	5	EFO	eye disease	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3085	"" []	5877294	\N	\N	EFO	8	EFO	material property	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3085	"" []	4397442	\N	\N	EFO	6	EFO	disease	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3085	"" []	4397444	\N	\N	EFO	6	EFO	disease	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3085	"" []	6470522	\N	\N	EFO	9	EFO	experimental factor	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
Orphanet:308520	\N	\N	"" []	Orphanet:308520	"" []	76271	\N	\N	EFO	0	EFO	Glycogen storage disease due to glycogen synthase deficiency	Glycogen storage disease due to glycogen synthase deficiency
Orphanet:79201	Orphanet:308520	\N	"" []	Orphanet:308520	"" []	219179	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to glycogen synthase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:308520	"" []	574457	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glycogen synthase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308520	"" []	1157231	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to glycogen synthase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308520	"" []	2040283	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen synthase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308520	"" []	2040284	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to glycogen synthase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308520	"" []	3190601	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogen synthase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308520	"" []	3190602	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogen synthase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308520	"" []	4397445	\N	\N	EFO	6	EFO	disposition	Glycogen storage disease due to glycogen synthase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308520	"" []	5414962	\N	\N	EFO	7	EFO	material property	Glycogen storage disease due to glycogen synthase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308520	"" []	6151035	\N	\N	EFO	8	EFO	experimental factor	Glycogen storage disease due to glycogen synthase deficiency
Orphanet:308552	\N	\N	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	76272	\N	\N	EFO	0	EFO	Glycogen storage disease due to acid maltase deficiency, infantile onset	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:365	Orphanet:308552	\N	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	219180	\N	\N	EFO	1	EFO	Glycogen storage disease due to acid maltase deficiency	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:206959	Orphanet:365	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	574458	\N	\N	EFO	2	EFO	Muscular glycogenosis	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:217572	Orphanet:365	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	574459	\N	\N	EFO	2	EFO	Glycogen storage disease with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:217581	Orphanet:365	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	574460	\N	\N	EFO	2	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:217638	Orphanet:365	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	574461	\N	\N	EFO	2	EFO	Lysosomal disease with restrictive cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:309337	Orphanet:365	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	574462	\N	\N	EFO	2	EFO	Lysosomal glycogen storage disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:79201	Orphanet:365	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	574463	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	1157232	\N	\N	EFO	3	EFO	Metabolic myopathy	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:99739	Orphanet:217572	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	1157233	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	1157234	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	1157235	\N	\N	EFO	3	EFO	Familial restrictive cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:68366	Orphanet:309337	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	1157236	\N	\N	EFO	3	EFO	Lysosomal disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	1157237	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	2040285	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	2040286	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	2040287	\N	\N	EFO	4	EFO	cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	2040288	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	2040289	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	2040290	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	3190603	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	3190604	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	3190605	\N	\N	EFO	5	EFO	heart disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	3190606	\N	\N	EFO	5	EFO	heart disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	3190607	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	3190608	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	4397446	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	6633497	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	4397448	\N	\N	EFO	6	EFO	cardiovascular disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	4397449	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	5414963	\N	\N	EFO	7	EFO	muscular disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	5414964	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Glycogen storage disease due to acid maltase deficiency, infantile onset
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	6807960	\N	\N	EFO	10	EFO	disposition	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	5414966	\N	\N	EFO	7	EFO	disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	6151036	\N	\N	EFO	8	EFO	skeletal system disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	6151037	\N	\N	EFO	8	EFO	genetic disorder	Glycogen storage disease due to acid maltase deficiency, infantile onset
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	7048688	\N	\N	EFO	11	EFO	material property	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	6633496	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to acid maltase deficiency, infantile onset
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308552	"Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." []	7190233	\N	\N	EFO	12	EFO	experimental factor	Glycogen storage disease due to acid maltase deficiency, infantile onset
Orphanet:308573	\N	\N	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	76273	\N	\N	EFO	0	EFO	Glycogen storage disease due to acid maltase deficiency, juvenile onset	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:365	Orphanet:308573	\N	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	219181	\N	\N	EFO	1	EFO	Glycogen storage disease due to acid maltase deficiency	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:206959	Orphanet:365	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	574464	\N	\N	EFO	2	EFO	Muscular glycogenosis	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:217572	Orphanet:365	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	574465	\N	\N	EFO	2	EFO	Glycogen storage disease with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:217581	Orphanet:365	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	574466	\N	\N	EFO	2	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:217638	Orphanet:365	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	574467	\N	\N	EFO	2	EFO	Lysosomal disease with restrictive cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:309337	Orphanet:365	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	574468	\N	\N	EFO	2	EFO	Lysosomal glycogen storage disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:79201	Orphanet:365	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	574469	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	1157238	\N	\N	EFO	3	EFO	Metabolic myopathy	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:99739	Orphanet:217572	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	1157239	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	1157240	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	1157241	\N	\N	EFO	3	EFO	Familial restrictive cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:68366	Orphanet:309337	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	1157242	\N	\N	EFO	3	EFO	Lysosomal disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	1157243	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	2040291	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	2040292	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	2040293	\N	\N	EFO	4	EFO	cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	2040294	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	2040295	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	2040296	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	3190609	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	3190610	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	3190611	\N	\N	EFO	5	EFO	heart disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	3190612	\N	\N	EFO	5	EFO	heart disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	3190613	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	3190614	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	4397450	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	6633500	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	4397452	\N	\N	EFO	6	EFO	cardiovascular disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	4397453	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	5414967	\N	\N	EFO	7	EFO	muscular disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	5414968	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Glycogen storage disease due to acid maltase deficiency, juvenile onset
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	6807961	\N	\N	EFO	10	EFO	disposition	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	5414970	\N	\N	EFO	7	EFO	disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	6151040	\N	\N	EFO	8	EFO	skeletal system disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	6151041	\N	\N	EFO	8	EFO	genetic disorder	Glycogen storage disease due to acid maltase deficiency, juvenile onset
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	7048689	\N	\N	EFO	11	EFO	material property	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	6633499	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to acid maltase deficiency, juvenile onset
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308573	"Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." []	7190234	\N	\N	EFO	12	EFO	experimental factor	Glycogen storage disease due to acid maltase deficiency, juvenile onset
Orphanet:3086	\N	\N	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	Orphanet:3086	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	76274	\N	\N	EFO	0	EFO	Autosomal dominant vitreoretinochoroidopathy	Autosomal dominant vitreoretinochoroidopathy
Orphanet:98670	Orphanet:3086	\N	"" []	Orphanet:3086	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	219182	\N	\N	EFO	1	EFO	Vitreoretinal degeneration	Autosomal dominant vitreoretinochoroidopathy
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:3086	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	574470	\N	\N	EFO	2	EFO	Vitreoretinopathy	Autosomal dominant vitreoretinochoroidopathy
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:3086	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	1157244	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Autosomal dominant vitreoretinochoroidopathy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:3086	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	2040297	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal dominant vitreoretinochoroidopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3086	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	3190615	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant vitreoretinochoroidopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3086	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	3190616	\N	\N	EFO	5	EFO	eye disease	Autosomal dominant vitreoretinochoroidopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3086	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	4397454	\N	\N	EFO	6	EFO	disease	Autosomal dominant vitreoretinochoroidopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3086	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	4397455	\N	\N	EFO	6	EFO	disease	Autosomal dominant vitreoretinochoroidopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3086	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	5414971	\N	\N	EFO	7	EFO	disposition	Autosomal dominant vitreoretinochoroidopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3086	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	6151044	\N	\N	EFO	8	EFO	material property	Autosomal dominant vitreoretinochoroidopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3086	"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." []	6633502	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant vitreoretinochoroidopathy
Orphanet:308604	\N	\N	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	76275	\N	\N	EFO	0	EFO	Glycogen storage disease due to acid maltase deficiency, adult onset	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:365	Orphanet:308604	\N	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	219183	\N	\N	EFO	1	EFO	Glycogen storage disease due to acid maltase deficiency	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:206959	Orphanet:365	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	574471	\N	\N	EFO	2	EFO	Muscular glycogenosis	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:217572	Orphanet:365	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	574472	\N	\N	EFO	2	EFO	Glycogen storage disease with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:217581	Orphanet:365	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	574473	\N	\N	EFO	2	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:217638	Orphanet:365	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	574474	\N	\N	EFO	2	EFO	Lysosomal disease with restrictive cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:309337	Orphanet:365	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	574475	\N	\N	EFO	2	EFO	Lysosomal glycogen storage disease	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:79201	Orphanet:365	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	574476	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	1157245	\N	\N	EFO	3	EFO	Metabolic myopathy	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:99739	Orphanet:217572	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	1157246	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	1157247	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	1157248	\N	\N	EFO	3	EFO	Familial restrictive cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:68366	Orphanet:309337	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	1157249	\N	\N	EFO	3	EFO	Lysosomal disease	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	1157250	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	2040298	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	2040299	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	2040300	\N	\N	EFO	4	EFO	cardiomyopathy	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	2040301	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	2040302	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	2040303	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	3190617	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	3190618	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	3190619	\N	\N	EFO	5	EFO	heart disease	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	3190620	\N	\N	EFO	5	EFO	heart disease	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	3190621	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	3190622	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	4397456	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	6633504	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	4397458	\N	\N	EFO	6	EFO	cardiovascular disease	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	4397459	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	5414972	\N	\N	EFO	7	EFO	muscular disease	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	5414973	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Glycogen storage disease due to acid maltase deficiency, adult onset
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	6807962	\N	\N	EFO	10	EFO	disposition	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	5414975	\N	\N	EFO	7	EFO	disease	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	6151045	\N	\N	EFO	8	EFO	skeletal system disease	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	6151046	\N	\N	EFO	8	EFO	genetic disorder	Glycogen storage disease due to acid maltase deficiency, adult onset
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	7048690	\N	\N	EFO	11	EFO	material property	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	6633503	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to acid maltase deficiency, adult onset
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308604	"Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." []	7190235	\N	\N	EFO	12	EFO	experimental factor	Glycogen storage disease due to acid maltase deficiency, adult onset
Orphanet:308621	\N	\N	"" []	Orphanet:308621	"" []	76276	\N	\N	EFO	0	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:367	Orphanet:308621	\N	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	Orphanet:308621	"" []	219184	\N	\N	EFO	1	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:101940	Orphanet:367	\N	"" []	Orphanet:308621	"" []	574477	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:206959	Orphanet:367	\N	"" []	Orphanet:308621	"" []	574478	\N	\N	EFO	2	EFO	Muscular glycogenosis	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:217607	Orphanet:367	\N	"" []	Orphanet:308621	"" []	574479	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:79201	Orphanet:367	\N	"" []	Orphanet:308621	"" []	574480	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:308621	"" []	1157251	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:308621	"" []	1157252	\N	\N	EFO	3	EFO	Metabolic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:308621	"" []	1157253	\N	\N	EFO	3	EFO	cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:308621	"" []	1157254	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:308621	"" []	1157255	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:308621	"" []	2040304	\N	\N	EFO	4	EFO	digestive system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308621	"" []	2040305	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:308621	"" []	2040306	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308621	"" []	2040307	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308621	"" []	2040308	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308621	"" []	2040309	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308621	"" []	2040310	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308621	"" []	3190623	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308621	"" []	6633507	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:308621	"" []	3190625	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:308621	"" []	3190626	\N	\N	EFO	5	EFO	cardiovascular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308621	"" []	3190627	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308621	"" []	3190628	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308621	"" []	6778726	\N	\N	EFO	10	EFO	disposition	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:308621	"" []	4397461	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308621	"" []	4397462	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308621	"" []	4397464	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308621	"" []	7029922	\N	\N	EFO	11	EFO	material property	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:308621	"" []	5414977	\N	\N	EFO	7	EFO	muscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:308621	"" []	5414978	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308621	"" []	7181786	\N	\N	EFO	12	EFO	experimental factor	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:308621	"" []	6151050	\N	\N	EFO	8	EFO	skeletal system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308621	"" []	6151051	\N	\N	EFO	8	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308621	"" []	6633506	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Orphanet:308638	\N	\N	"" []	Orphanet:308638	"" []	76277	\N	\N	EFO	0	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:367	Orphanet:308638	\N	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	Orphanet:308638	"" []	219185	\N	\N	EFO	1	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:101940	Orphanet:367	\N	"" []	Orphanet:308638	"" []	574481	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:206959	Orphanet:367	\N	"" []	Orphanet:308638	"" []	574482	\N	\N	EFO	2	EFO	Muscular glycogenosis	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:217607	Orphanet:367	\N	"" []	Orphanet:308638	"" []	574483	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:79201	Orphanet:367	\N	"" []	Orphanet:308638	"" []	574484	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:308638	"" []	1157256	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:308638	"" []	1157257	\N	\N	EFO	3	EFO	Metabolic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:308638	"" []	1157258	\N	\N	EFO	3	EFO	cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:308638	"" []	1157259	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:308638	"" []	1157260	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:308638	"" []	2040311	\N	\N	EFO	4	EFO	digestive system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308638	"" []	2040312	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:308638	"" []	2040313	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308638	"" []	2040314	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308638	"" []	2040315	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308638	"" []	2040316	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308638	"" []	2040317	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308638	"" []	3190629	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308638	"" []	6633509	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:308638	"" []	3190631	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:308638	"" []	3190632	\N	\N	EFO	5	EFO	cardiovascular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308638	"" []	3190633	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308638	"" []	3190634	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308638	"" []	6778727	\N	\N	EFO	10	EFO	disposition	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:308638	"" []	4397466	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308638	"" []	4397467	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308638	"" []	4397469	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308638	"" []	7029923	\N	\N	EFO	11	EFO	material property	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:308638	"" []	5414980	\N	\N	EFO	7	EFO	muscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:308638	"" []	5414981	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308638	"" []	7181787	\N	\N	EFO	12	EFO	experimental factor	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:308638	"" []	6151053	\N	\N	EFO	8	EFO	skeletal system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308638	"" []	6151054	\N	\N	EFO	8	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308638	"" []	6633508	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Orphanet:308655	\N	\N	"" []	Orphanet:308655	"" []	76278	\N	\N	EFO	0	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:367	Orphanet:308655	\N	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	Orphanet:308655	"" []	219186	\N	\N	EFO	1	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:101940	Orphanet:367	\N	"" []	Orphanet:308655	"" []	574485	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:206959	Orphanet:367	\N	"" []	Orphanet:308655	"" []	574486	\N	\N	EFO	2	EFO	Muscular glycogenosis	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:217607	Orphanet:367	\N	"" []	Orphanet:308655	"" []	574487	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:79201	Orphanet:367	\N	"" []	Orphanet:308655	"" []	574488	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:308655	"" []	1157261	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:308655	"" []	1157262	\N	\N	EFO	3	EFO	Metabolic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:308655	"" []	1157263	\N	\N	EFO	3	EFO	cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:308655	"" []	1157264	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:308655	"" []	1157265	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:308655	"" []	2040318	\N	\N	EFO	4	EFO	digestive system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308655	"" []	2040319	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:308655	"" []	2040320	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308655	"" []	2040321	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308655	"" []	2040322	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308655	"" []	2040323	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308655	"" []	2040324	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308655	"" []	3190635	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308655	"" []	6633511	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:308655	"" []	3190637	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:308655	"" []	3190638	\N	\N	EFO	5	EFO	cardiovascular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308655	"" []	3190639	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308655	"" []	3190640	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308655	"" []	6778728	\N	\N	EFO	10	EFO	disposition	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:308655	"" []	4397471	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308655	"" []	4397472	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308655	"" []	4397474	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308655	"" []	7029924	\N	\N	EFO	11	EFO	material property	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:308655	"" []	5414983	\N	\N	EFO	7	EFO	muscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:308655	"" []	5414984	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308655	"" []	7181788	\N	\N	EFO	12	EFO	experimental factor	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:308655	"" []	6151056	\N	\N	EFO	8	EFO	skeletal system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308655	"" []	6151057	\N	\N	EFO	8	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308655	"" []	6633510	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Orphanet:308670	\N	\N	"" []	Orphanet:308670	"" []	76279	\N	\N	EFO	0	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:367	Orphanet:308670	\N	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	Orphanet:308670	"" []	219187	\N	\N	EFO	1	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:101940	Orphanet:367	\N	"" []	Orphanet:308670	"" []	574489	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:206959	Orphanet:367	\N	"" []	Orphanet:308670	"" []	574490	\N	\N	EFO	2	EFO	Muscular glycogenosis	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:217607	Orphanet:367	\N	"" []	Orphanet:308670	"" []	574491	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:79201	Orphanet:367	\N	"" []	Orphanet:308670	"" []	574492	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:308670	"" []	1157266	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:308670	"" []	1157267	\N	\N	EFO	3	EFO	Metabolic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:308670	"" []	1157268	\N	\N	EFO	3	EFO	cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:308670	"" []	1157269	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:308670	"" []	1157270	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:308670	"" []	2040325	\N	\N	EFO	4	EFO	digestive system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308670	"" []	2040326	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:308670	"" []	2040327	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308670	"" []	2040328	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308670	"" []	2040329	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308670	"" []	2040330	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308670	"" []	2040331	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308670	"" []	3190641	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308670	"" []	6633513	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:308670	"" []	3190643	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:308670	"" []	3190644	\N	\N	EFO	5	EFO	cardiovascular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308670	"" []	3190645	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308670	"" []	3190646	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308670	"" []	6778729	\N	\N	EFO	10	EFO	disposition	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:308670	"" []	4397476	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308670	"" []	4397477	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308670	"" []	4397479	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308670	"" []	7029925	\N	\N	EFO	11	EFO	material property	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:308670	"" []	5414986	\N	\N	EFO	7	EFO	muscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:308670	"" []	5414987	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308670	"" []	7181789	\N	\N	EFO	12	EFO	experimental factor	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:308670	"" []	6151059	\N	\N	EFO	8	EFO	skeletal system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308670	"" []	6151060	\N	\N	EFO	8	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308670	"" []	6633512	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Orphanet:308684	\N	\N	"" []	Orphanet:308684	"" []	76280	\N	\N	EFO	0	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:367	Orphanet:308684	\N	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	Orphanet:308684	"" []	219188	\N	\N	EFO	1	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:101940	Orphanet:367	\N	"" []	Orphanet:308684	"" []	574493	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:206959	Orphanet:367	\N	"" []	Orphanet:308684	"" []	574494	\N	\N	EFO	2	EFO	Muscular glycogenosis	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:217607	Orphanet:367	\N	"" []	Orphanet:308684	"" []	574495	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:79201	Orphanet:367	\N	"" []	Orphanet:308684	"" []	574496	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:308684	"" []	1157271	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:308684	"" []	1157272	\N	\N	EFO	3	EFO	Metabolic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:308684	"" []	1157273	\N	\N	EFO	3	EFO	cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:308684	"" []	1157274	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:308684	"" []	1157275	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:308684	"" []	2040332	\N	\N	EFO	4	EFO	digestive system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308684	"" []	2040333	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:308684	"" []	2040334	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308684	"" []	2040335	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308684	"" []	2040336	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308684	"" []	2040337	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308684	"" []	2040338	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308684	"" []	3190647	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308684	"" []	6633515	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:308684	"" []	3190649	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:308684	"" []	3190650	\N	\N	EFO	5	EFO	cardiovascular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308684	"" []	3190651	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308684	"" []	3190652	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308684	"" []	6778730	\N	\N	EFO	10	EFO	disposition	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:308684	"" []	4397481	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308684	"" []	4397482	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308684	"" []	4397484	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308684	"" []	7029926	\N	\N	EFO	11	EFO	material property	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:308684	"" []	5414989	\N	\N	EFO	7	EFO	muscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:308684	"" []	5414990	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308684	"" []	7181790	\N	\N	EFO	12	EFO	experimental factor	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:308684	"" []	6151062	\N	\N	EFO	8	EFO	skeletal system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308684	"" []	6151063	\N	\N	EFO	8	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308684	"" []	6633514	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Orphanet:308698	\N	\N	"" []	Orphanet:308698	"" []	76281	\N	\N	EFO	0	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:367	Orphanet:308698	\N	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	Orphanet:308698	"" []	219189	\N	\N	EFO	1	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:101940	Orphanet:367	\N	"" []	Orphanet:308698	"" []	574497	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:206959	Orphanet:367	\N	"" []	Orphanet:308698	"" []	574498	\N	\N	EFO	2	EFO	Muscular glycogenosis	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:217607	Orphanet:367	\N	"" []	Orphanet:308698	"" []	574499	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:79201	Orphanet:367	\N	"" []	Orphanet:308698	"" []	574500	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:308698	"" []	1157276	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:308698	"" []	1157277	\N	\N	EFO	3	EFO	Metabolic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:308698	"" []	1157278	\N	\N	EFO	3	EFO	cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:308698	"" []	1157279	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:308698	"" []	1157280	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:308698	"" []	2040339	\N	\N	EFO	4	EFO	digestive system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308698	"" []	2040340	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:308698	"" []	2040341	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308698	"" []	2040342	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308698	"" []	2040343	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308698	"" []	2040344	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308698	"" []	2040345	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308698	"" []	3190653	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308698	"" []	6633517	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:308698	"" []	3190655	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:308698	"" []	3190656	\N	\N	EFO	5	EFO	cardiovascular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308698	"" []	3190657	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308698	"" []	3190658	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308698	"" []	6778731	\N	\N	EFO	10	EFO	disposition	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:308698	"" []	4397486	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308698	"" []	4397487	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308698	"" []	4397489	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308698	"" []	7029927	\N	\N	EFO	11	EFO	material property	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:308698	"" []	5414992	\N	\N	EFO	7	EFO	muscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:308698	"" []	5414993	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308698	"" []	7181791	\N	\N	EFO	12	EFO	experimental factor	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:308698	"" []	6151065	\N	\N	EFO	8	EFO	skeletal system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308698	"" []	6151066	\N	\N	EFO	8	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308698	"" []	6633516	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Orphanet:3087	\N	\N	"" []	Orphanet:3087	"" []	76282	\N	\N	EFO	0	EFO	Retinohepatoendocrinologic syndrome	Retinohepatoendocrinologic syndrome
Orphanet:183643	Orphanet:3087	\N	"" []	Orphanet:3087	"" []	219190	\N	\N	EFO	1	EFO	Genetic polyendocrinopathy	Retinohepatoendocrinologic syndrome
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:3087	"" []	574501	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Retinohepatoendocrinologic syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3087	"" []	1157281	\N	\N	EFO	3	EFO	genetic disorder	Retinohepatoendocrinologic syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3087	"" []	1157282	\N	\N	EFO	3	EFO	endocrine system disease	Retinohepatoendocrinologic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3087	"" []	2040346	\N	\N	EFO	4	EFO	disease	Retinohepatoendocrinologic syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3087	"" []	2040347	\N	\N	EFO	4	EFO	disease	Retinohepatoendocrinologic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3087	"" []	3190659	\N	\N	EFO	5	EFO	disposition	Retinohepatoendocrinologic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3087	"" []	4397490	\N	\N	EFO	6	EFO	material property	Retinohepatoendocrinologic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3087	"" []	5414994	\N	\N	EFO	7	EFO	experimental factor	Retinohepatoendocrinologic syndrome
Orphanet:308712	\N	\N	"" []	Orphanet:308712	"" []	76283	\N	\N	EFO	0	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:367	Orphanet:308712	\N	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	Orphanet:308712	"" []	219191	\N	\N	EFO	1	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:101940	Orphanet:367	\N	"" []	Orphanet:308712	"" []	574502	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:206959	Orphanet:367	\N	"" []	Orphanet:308712	"" []	574503	\N	\N	EFO	2	EFO	Muscular glycogenosis	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:217607	Orphanet:367	\N	"" []	Orphanet:308712	"" []	574504	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:79201	Orphanet:367	\N	"" []	Orphanet:308712	"" []	574505	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:308712	"" []	1157283	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:308712	"" []	1157284	\N	\N	EFO	3	EFO	Metabolic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:308712	"" []	1157285	\N	\N	EFO	3	EFO	cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:308712	"" []	1157286	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:308712	"" []	1157287	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:308712	"" []	2040348	\N	\N	EFO	4	EFO	digestive system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308712	"" []	2040349	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:308712	"" []	2040350	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308712	"" []	2040351	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308712	"" []	2040352	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:308712	"" []	2040353	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308712	"" []	2040354	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308712	"" []	3190660	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308712	"" []	6633519	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:308712	"" []	3190662	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:308712	"" []	3190663	\N	\N	EFO	5	EFO	cardiovascular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308712	"" []	3190664	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308712	"" []	3190665	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308712	"" []	6778732	\N	\N	EFO	10	EFO	disposition	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:308712	"" []	4397492	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308712	"" []	4397493	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308712	"" []	4397495	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308712	"" []	7029928	\N	\N	EFO	11	EFO	material property	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:308712	"" []	5414996	\N	\N	EFO	7	EFO	muscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:308712	"" []	5414997	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308712	"" []	7181792	\N	\N	EFO	12	EFO	experimental factor	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:308712	"" []	6151068	\N	\N	EFO	8	EFO	skeletal system disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308712	"" []	6151069	\N	\N	EFO	8	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308712	"" []	6633518	\N	\N	EFO	9	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Orphanet:3088	\N	\N	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	76284	\N	\N	EFO	0	EFO	Revesz syndrome	Revesz syndrome
Orphanet:68383	Orphanet:3088	\N	"" []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	219192	\N	\N	EFO	1	EFO	Rare constitutional medullar aplasia	Revesz syndrome
Orphanet:71862	Orphanet:3088	\N	"" []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	219193	\N	\N	EFO	1	EFO	Retinal dystrophy	Revesz syndrome
Orphanet:182040	Orphanet:68383	\N	"" []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	574506	\N	\N	EFO	2	EFO	Medullar aplasia	Revesz syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	574507	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Revesz syndrome
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	1157288	\N	\N	EFO	3	EFO	Rare constitutional anemia	Revesz syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	1157289	\N	\N	EFO	3	EFO	Rare genetic eye disease	Revesz syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	2040355	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Revesz syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	2040356	\N	\N	EFO	4	EFO	genetic disorder	Revesz syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	2040357	\N	\N	EFO	4	EFO	eye disease	Revesz syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	3190666	\N	\N	EFO	5	EFO	genetic disorder	Revesz syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	3190667	\N	\N	EFO	5	EFO	hematological system disease	Revesz syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	4397496	\N	\N	EFO	6	EFO	disease	Revesz syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	3190669	\N	\N	EFO	5	EFO	disease	Revesz syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	4397497	\N	\N	EFO	6	EFO	disease	Revesz syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	5182568	\N	\N	EFO	7	EFO	disposition	Revesz syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	5997942	\N	\N	EFO	8	EFO	material property	Revesz syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3088	"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." []	6551264	\N	\N	EFO	9	EFO	experimental factor	Revesz syndrome
Orphanet:308993	\N	\N	"" []	Orphanet:308993	"" []	76285	\N	\N	EFO	0	EFO	Glycerol kinase deficiency	Glycerol kinase deficiency
Orphanet:79179	Orphanet:308993	\N	"" []	Orphanet:308993	"" []	219194	\N	\N	EFO	1	EFO	Disorder of glycerol metabolism	Glycerol kinase deficiency
Orphanet:79161	Orphanet:79179	\N	"" []	Orphanet:308993	"" []	574508	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycerol kinase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308993	"" []	1157290	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycerol kinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308993	"" []	2040358	\N	\N	EFO	4	EFO	genetic disorder	Glycerol kinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308993	"" []	2040359	\N	\N	EFO	4	EFO	metabolic disease	Glycerol kinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308993	"" []	3190670	\N	\N	EFO	5	EFO	disease	Glycerol kinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308993	"" []	3190671	\N	\N	EFO	5	EFO	disease	Glycerol kinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308993	"" []	4397499	\N	\N	EFO	6	EFO	disposition	Glycerol kinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308993	"" []	5414999	\N	\N	EFO	7	EFO	material property	Glycerol kinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308993	"" []	6151071	\N	\N	EFO	8	EFO	experimental factor	Glycerol kinase deficiency
Orphanet:308998	\N	\N	"" []	Orphanet:308998	"" []	76286	\N	\N	EFO	0	EFO	Disorder of glyoxylate metabolism	Disorder of glyoxylate metabolism
Orphanet:79161	Orphanet:308998	\N	"" []	Orphanet:308998	"" []	219195	\N	\N	EFO	1	EFO	Disorder of carbohydrate metabolism	Disorder of glyoxylate metabolism
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:308998	"" []	574509	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of glyoxylate metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:308998	"" []	1157291	\N	\N	EFO	3	EFO	genetic disorder	Disorder of glyoxylate metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:308998	"" []	1157292	\N	\N	EFO	3	EFO	metabolic disease	Disorder of glyoxylate metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308998	"" []	2040360	\N	\N	EFO	4	EFO	disease	Disorder of glyoxylate metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:308998	"" []	2040361	\N	\N	EFO	4	EFO	disease	Disorder of glyoxylate metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:308998	"" []	3190672	\N	\N	EFO	5	EFO	disposition	Disorder of glyoxylate metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:308998	"" []	4397500	\N	\N	EFO	6	EFO	material property	Disorder of glyoxylate metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:308998	"" []	5415000	\N	\N	EFO	7	EFO	experimental factor	Disorder of glyoxylate metabolism
Orphanet:309	\N	\N	"" []	Orphanet:309	"" []	76287	\N	\N	EFO	0	EFO	Familial partial epilepsy	Familial partial epilepsy
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:309	"" []	219196	\N	\N	EFO	1	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Familial partial epilepsy
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:309	"" []	219197	\N	\N	EFO	1	EFO	Channelopathy with epilepsy	Familial partial epilepsy
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:309	"" []	219198	\N	\N	EFO	1	EFO	Childhood-onset epilepsy syndrome	Familial partial epilepsy
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:309	"" []	219199	\N	\N	EFO	1	EFO	Adolescent-onset epilepsy syndrome	Familial partial epilepsy
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:309	"" []	574510	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Familial partial epilepsy
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:309	"" []	574511	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Familial partial epilepsy
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:309	"" []	574512	\N	\N	EFO	2	EFO	Epilepsy syndrome	Familial partial epilepsy
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:309	"" []	574513	\N	\N	EFO	2	EFO	Epilepsy syndrome	Familial partial epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:309	"" []	2040363	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Familial partial epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:309	"" []	1157294	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Familial partial epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:309	"" []	1157295	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Familial partial epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309	"" []	3000297	\N	\N	EFO	5	EFO	genetic disorder	Familial partial epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309	"" []	4133845	\N	\N	EFO	6	EFO	disease	Familial partial epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309	"" []	5182569	\N	\N	EFO	7	EFO	disposition	Familial partial epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309	"" []	5997943	\N	\N	EFO	8	EFO	material property	Familial partial epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309	"" []	6551265	\N	\N	EFO	9	EFO	experimental factor	Familial partial epilepsy
Orphanet:309001	\N	\N	"" []	Orphanet:309001	"" []	76288	\N	\N	EFO	0	EFO	Disorder of carbohydrate absorption and transport	Disorder of carbohydrate absorption and transport
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:309001	"" []	219200	\N	\N	EFO	1	EFO	Disorder of carbohydrate metabolism	Disorder of carbohydrate absorption and transport
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:309001	"" []	574514	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of carbohydrate absorption and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309001	"" []	1157296	\N	\N	EFO	3	EFO	genetic disorder	Disorder of carbohydrate absorption and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309001	"" []	1157297	\N	\N	EFO	3	EFO	metabolic disease	Disorder of carbohydrate absorption and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309001	"" []	2040364	\N	\N	EFO	4	EFO	disease	Disorder of carbohydrate absorption and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309001	"" []	2040365	\N	\N	EFO	4	EFO	disease	Disorder of carbohydrate absorption and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309001	"" []	3190674	\N	\N	EFO	5	EFO	disposition	Disorder of carbohydrate absorption and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309001	"" []	4397502	\N	\N	EFO	6	EFO	material property	Disorder of carbohydrate absorption and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309001	"" []	5415002	\N	\N	EFO	7	EFO	experimental factor	Disorder of carbohydrate absorption and transport
Orphanet:309005	\N	\N	"" []	Orphanet:309005	"" []	76289	\N	\N	EFO	0	EFO	Disorder of lipid metabolism	Disorder of lipid metabolism
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:309005	"" []	219201	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Disorder of lipid metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309005	"" []	574515	\N	\N	EFO	2	EFO	genetic disorder	Disorder of lipid metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309005	"" []	574516	\N	\N	EFO	2	EFO	metabolic disease	Disorder of lipid metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309005	"" []	1157298	\N	\N	EFO	3	EFO	disease	Disorder of lipid metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309005	"" []	1157299	\N	\N	EFO	3	EFO	disease	Disorder of lipid metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309005	"" []	2040366	\N	\N	EFO	4	EFO	disposition	Disorder of lipid metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309005	"" []	3190675	\N	\N	EFO	5	EFO	material property	Disorder of lipid metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309005	"" []	4397503	\N	\N	EFO	6	EFO	experimental factor	Disorder of lipid metabolism
Orphanet:309015	\N	\N	"" []	Orphanet:309015	"" []	76290	\N	\N	EFO	0	EFO	Familial lipoprotein lipase deficiency	Familial lipoprotein lipase deficiency
Orphanet:411	Orphanet:309015	\N	"" []	Orphanet:309015	"" []	219202	\N	\N	EFO	1	EFO	Hyperlipoproteinemia type 1	Familial lipoprotein lipase deficiency
Orphanet:181425	Orphanet:411	\N	"" []	Orphanet:309015	"" []	574517	\N	\N	EFO	2	EFO	Major hypertriglyceridemia	Familial lipoprotein lipase deficiency
Orphanet:181422	Orphanet:181425	\N	"" []	Orphanet:309015	"" []	1157300	\N	\N	EFO	3	EFO	Rare hyperlipidemia	Familial lipoprotein lipase deficiency
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:309015	"" []	2040367	\N	\N	EFO	4	EFO	Rare dyslipidemia	Familial lipoprotein lipase deficiency
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:309015	"" []	3190676	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Familial lipoprotein lipase deficiency
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:309015	"" []	3190677	\N	\N	EFO	5	EFO	Disorder of lipid metabolism	Familial lipoprotein lipase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309015	"" []	4397504	\N	\N	EFO	6	EFO	genetic disorder	Familial lipoprotein lipase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:309015	"" []	4397505	\N	\N	EFO	6	EFO	endocrine system disease	Familial lipoprotein lipase deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:309015	"" []	4397506	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Familial lipoprotein lipase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309015	"" []	6151074	\N	\N	EFO	8	EFO	disease	Familial lipoprotein lipase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309015	"" []	5415004	\N	\N	EFO	7	EFO	disease	Familial lipoprotein lipase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309015	"" []	5415005	\N	\N	EFO	7	EFO	genetic disorder	Familial lipoprotein lipase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309015	"" []	5415006	\N	\N	EFO	7	EFO	metabolic disease	Familial lipoprotein lipase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309015	"" []	6551266	\N	\N	EFO	9	EFO	disposition	Familial lipoprotein lipase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309015	"" []	6151075	\N	\N	EFO	8	EFO	disease	Familial lipoprotein lipase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309015	"" []	6889377	\N	\N	EFO	10	EFO	material property	Familial lipoprotein lipase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309015	"" []	7086042	\N	\N	EFO	11	EFO	experimental factor	Familial lipoprotein lipase deficiency
Orphanet:309020	\N	\N	"" []	Orphanet:309020	"" []	76291	\N	\N	EFO	0	EFO	Familial apolipoprotein C-II deficiency	Familial apolipoprotein C-II deficiency
Orphanet:411	Orphanet:309020	\N	"" []	Orphanet:309020	"" []	219203	\N	\N	EFO	1	EFO	Hyperlipoproteinemia type 1	Familial apolipoprotein C-II deficiency
Orphanet:181425	Orphanet:411	\N	"" []	Orphanet:309020	"" []	574518	\N	\N	EFO	2	EFO	Major hypertriglyceridemia	Familial apolipoprotein C-II deficiency
Orphanet:181422	Orphanet:181425	\N	"" []	Orphanet:309020	"" []	1157301	\N	\N	EFO	3	EFO	Rare hyperlipidemia	Familial apolipoprotein C-II deficiency
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:309020	"" []	2040368	\N	\N	EFO	4	EFO	Rare dyslipidemia	Familial apolipoprotein C-II deficiency
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:309020	"" []	3190678	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Familial apolipoprotein C-II deficiency
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:309020	"" []	3190679	\N	\N	EFO	5	EFO	Disorder of lipid metabolism	Familial apolipoprotein C-II deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309020	"" []	4397507	\N	\N	EFO	6	EFO	genetic disorder	Familial apolipoprotein C-II deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:309020	"" []	4397508	\N	\N	EFO	6	EFO	endocrine system disease	Familial apolipoprotein C-II deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:309020	"" []	4397509	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Familial apolipoprotein C-II deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309020	"" []	6151077	\N	\N	EFO	8	EFO	disease	Familial apolipoprotein C-II deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309020	"" []	5415008	\N	\N	EFO	7	EFO	disease	Familial apolipoprotein C-II deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309020	"" []	5415009	\N	\N	EFO	7	EFO	genetic disorder	Familial apolipoprotein C-II deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309020	"" []	5415010	\N	\N	EFO	7	EFO	metabolic disease	Familial apolipoprotein C-II deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309020	"" []	6551267	\N	\N	EFO	9	EFO	disposition	Familial apolipoprotein C-II deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309020	"" []	6151078	\N	\N	EFO	8	EFO	disease	Familial apolipoprotein C-II deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309020	"" []	6889378	\N	\N	EFO	10	EFO	material property	Familial apolipoprotein C-II deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309020	"" []	7086043	\N	\N	EFO	11	EFO	experimental factor	Familial apolipoprotein C-II deficiency
Orphanet:309025	\N	\N	"" []	Orphanet:309025	"" []	76292	\N	\N	EFO	0	EFO	Mevalonate kinase deficiency	Mevalonate kinase deficiency
Orphanet:79195	Orphanet:309025	\N	"" []	Orphanet:309025	"" []	219204	\N	\N	EFO	1	EFO	Sterol biosynthesis disorder	Mevalonate kinase deficiency
Orphanet:139009	Orphanet:79195	\N	"" []	Orphanet:309025	"" []	574519	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Mevalonate kinase deficiency
Orphanet:79226	Orphanet:79195	\N	"" []	Orphanet:309025	"" []	574520	\N	\N	EFO	2	EFO	Sterol metabolism disorder	Mevalonate kinase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:309025	"" []	1157302	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mevalonate kinase deficiency
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:309025	"" []	1157303	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Mevalonate kinase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309025	"" []	2040369	\N	\N	EFO	4	EFO	genetic disorder	Mevalonate kinase deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:309025	"" []	2040370	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mevalonate kinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309025	"" []	4397511	\N	\N	EFO	6	EFO	disease	Mevalonate kinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309025	"" []	3190681	\N	\N	EFO	5	EFO	genetic disorder	Mevalonate kinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309025	"" []	3190682	\N	\N	EFO	5	EFO	metabolic disease	Mevalonate kinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309025	"" []	5182570	\N	\N	EFO	7	EFO	disposition	Mevalonate kinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309025	"" []	4397512	\N	\N	EFO	6	EFO	disease	Mevalonate kinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309025	"" []	5997944	\N	\N	EFO	8	EFO	material property	Mevalonate kinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309025	"" []	6551268	\N	\N	EFO	9	EFO	experimental factor	Mevalonate kinase deficiency
Orphanet:309028	\N	\N	"" []	Orphanet:309028	"" []	76293	\N	\N	EFO	0	EFO	Disorder of lipid absorption and transport	Disorder of lipid absorption and transport
Orphanet:165661	Orphanet:309028	\N	"" []	Orphanet:309028	"" []	219205	\N	\N	EFO	1	EFO	Genetic pancreatic disease	Disorder of lipid absorption and transport
Orphanet:309005	Orphanet:309028	\N	"" []	Orphanet:309028	"" []	219206	\N	\N	EFO	1	EFO	Disorder of lipid metabolism	Disorder of lipid absorption and transport
EFO:0001379	Orphanet:165661	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:309028	"" []	574521	\N	\N	EFO	2	EFO	endocrine system disease	Disorder of lipid absorption and transport
Orphanet:165652	Orphanet:165661	\N	"" []	Orphanet:309028	"" []	574522	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Disorder of lipid absorption and transport
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:309028	"" []	574523	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of lipid absorption and transport
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309028	"" []	1157304	\N	\N	EFO	3	EFO	disease	Disorder of lipid absorption and transport
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309028	"" []	1157305	\N	\N	EFO	3	EFO	genetic disorder	Disorder of lipid absorption and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309028	"" []	1157306	\N	\N	EFO	3	EFO	genetic disorder	Disorder of lipid absorption and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309028	"" []	1157307	\N	\N	EFO	3	EFO	metabolic disease	Disorder of lipid absorption and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309028	"" []	3190684	\N	\N	EFO	5	EFO	disposition	Disorder of lipid absorption and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309028	"" []	2040372	\N	\N	EFO	4	EFO	disease	Disorder of lipid absorption and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309028	"" []	2040373	\N	\N	EFO	4	EFO	disease	Disorder of lipid absorption and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309028	"" []	4133846	\N	\N	EFO	6	EFO	material property	Disorder of lipid absorption and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309028	"" []	5182571	\N	\N	EFO	7	EFO	experimental factor	Disorder of lipid absorption and transport
Orphanet:309031	\N	\N	"" []	Orphanet:309031	"" []	76294	\N	\N	EFO	0	EFO	Pancreatic triacylglycerol lipase deficiency	Pancreatic triacylglycerol lipase deficiency
Orphanet:309028	Orphanet:309031	\N	"" []	Orphanet:309031	"" []	219207	\N	\N	EFO	1	EFO	Disorder of lipid absorption and transport	Pancreatic triacylglycerol lipase deficiency
Orphanet:165661	Orphanet:309028	\N	"" []	Orphanet:309031	"" []	574524	\N	\N	EFO	2	EFO	Genetic pancreatic disease	Pancreatic triacylglycerol lipase deficiency
Orphanet:309005	Orphanet:309028	\N	"" []	Orphanet:309031	"" []	574525	\N	\N	EFO	2	EFO	Disorder of lipid metabolism	Pancreatic triacylglycerol lipase deficiency
EFO:0001379	Orphanet:165661	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:309031	"" []	1157308	\N	\N	EFO	3	EFO	endocrine system disease	Pancreatic triacylglycerol lipase deficiency
Orphanet:165652	Orphanet:165661	\N	"" []	Orphanet:309031	"" []	1157309	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Pancreatic triacylglycerol lipase deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:309031	"" []	1157310	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Pancreatic triacylglycerol lipase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309031	"" []	2040374	\N	\N	EFO	4	EFO	disease	Pancreatic triacylglycerol lipase deficiency
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309031	"" []	2040375	\N	\N	EFO	4	EFO	genetic disorder	Pancreatic triacylglycerol lipase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309031	"" []	2040376	\N	\N	EFO	4	EFO	genetic disorder	Pancreatic triacylglycerol lipase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309031	"" []	2040377	\N	\N	EFO	4	EFO	metabolic disease	Pancreatic triacylglycerol lipase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309031	"" []	4397515	\N	\N	EFO	6	EFO	disposition	Pancreatic triacylglycerol lipase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309031	"" []	3190686	\N	\N	EFO	5	EFO	disease	Pancreatic triacylglycerol lipase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309031	"" []	3190687	\N	\N	EFO	5	EFO	disease	Pancreatic triacylglycerol lipase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309031	"" []	5182572	\N	\N	EFO	7	EFO	material property	Pancreatic triacylglycerol lipase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309031	"" []	5997945	\N	\N	EFO	8	EFO	experimental factor	Pancreatic triacylglycerol lipase deficiency
Orphanet:309108	\N	\N	"" []	Orphanet:309108	"" []	76295	\N	\N	EFO	0	EFO	Pancreatic colipase deficiency	Pancreatic colipase deficiency
Orphanet:309028	Orphanet:309108	\N	"" []	Orphanet:309108	"" []	219208	\N	\N	EFO	1	EFO	Disorder of lipid absorption and transport	Pancreatic colipase deficiency
Orphanet:165661	Orphanet:309028	\N	"" []	Orphanet:309108	"" []	574526	\N	\N	EFO	2	EFO	Genetic pancreatic disease	Pancreatic colipase deficiency
Orphanet:309005	Orphanet:309028	\N	"" []	Orphanet:309108	"" []	574527	\N	\N	EFO	2	EFO	Disorder of lipid metabolism	Pancreatic colipase deficiency
EFO:0001379	Orphanet:165661	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:309108	"" []	1157311	\N	\N	EFO	3	EFO	endocrine system disease	Pancreatic colipase deficiency
Orphanet:165652	Orphanet:165661	\N	"" []	Orphanet:309108	"" []	1157312	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Pancreatic colipase deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:309108	"" []	1157313	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Pancreatic colipase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309108	"" []	2040378	\N	\N	EFO	4	EFO	disease	Pancreatic colipase deficiency
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309108	"" []	2040379	\N	\N	EFO	4	EFO	genetic disorder	Pancreatic colipase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309108	"" []	2040380	\N	\N	EFO	4	EFO	genetic disorder	Pancreatic colipase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309108	"" []	2040381	\N	\N	EFO	4	EFO	metabolic disease	Pancreatic colipase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309108	"" []	4397517	\N	\N	EFO	6	EFO	disposition	Pancreatic colipase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309108	"" []	3190689	\N	\N	EFO	5	EFO	disease	Pancreatic colipase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309108	"" []	3190690	\N	\N	EFO	5	EFO	disease	Pancreatic colipase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309108	"" []	5182573	\N	\N	EFO	7	EFO	material property	Pancreatic colipase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309108	"" []	5997946	\N	\N	EFO	8	EFO	experimental factor	Pancreatic colipase deficiency
Orphanet:309111	\N	\N	"" []	Orphanet:309111	"" []	76296	\N	\N	EFO	0	EFO	Combined pancreatic lipase-colipase deficiency	Combined pancreatic lipase-colipase deficiency
Orphanet:309028	Orphanet:309111	\N	"" []	Orphanet:309111	"" []	219209	\N	\N	EFO	1	EFO	Disorder of lipid absorption and transport	Combined pancreatic lipase-colipase deficiency
Orphanet:165661	Orphanet:309028	\N	"" []	Orphanet:309111	"" []	574528	\N	\N	EFO	2	EFO	Genetic pancreatic disease	Combined pancreatic lipase-colipase deficiency
Orphanet:309005	Orphanet:309028	\N	"" []	Orphanet:309111	"" []	574529	\N	\N	EFO	2	EFO	Disorder of lipid metabolism	Combined pancreatic lipase-colipase deficiency
EFO:0001379	Orphanet:165661	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:309111	"" []	1157314	\N	\N	EFO	3	EFO	endocrine system disease	Combined pancreatic lipase-colipase deficiency
Orphanet:165652	Orphanet:165661	\N	"" []	Orphanet:309111	"" []	1157315	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Combined pancreatic lipase-colipase deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:309111	"" []	1157316	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Combined pancreatic lipase-colipase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309111	"" []	2040382	\N	\N	EFO	4	EFO	disease	Combined pancreatic lipase-colipase deficiency
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309111	"" []	2040383	\N	\N	EFO	4	EFO	genetic disorder	Combined pancreatic lipase-colipase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309111	"" []	2040384	\N	\N	EFO	4	EFO	genetic disorder	Combined pancreatic lipase-colipase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309111	"" []	2040385	\N	\N	EFO	4	EFO	metabolic disease	Combined pancreatic lipase-colipase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309111	"" []	4397519	\N	\N	EFO	6	EFO	disposition	Combined pancreatic lipase-colipase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309111	"" []	3190692	\N	\N	EFO	5	EFO	disease	Combined pancreatic lipase-colipase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309111	"" []	3190693	\N	\N	EFO	5	EFO	disease	Combined pancreatic lipase-colipase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309111	"" []	5182574	\N	\N	EFO	7	EFO	material property	Combined pancreatic lipase-colipase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309111	"" []	5997947	\N	\N	EFO	8	EFO	experimental factor	Combined pancreatic lipase-colipase deficiency
Orphanet:309115	\N	\N	"" []	Orphanet:309115	"" []	76297	\N	\N	EFO	0	EFO	Disorder of mitochondrial fatty acid oxidation	Disorder of mitochondrial fatty acid oxidation
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:309115	"" []	219210	\N	\N	EFO	1	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Disorder of mitochondrial fatty acid oxidation
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:309115	"" []	574530	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Disorder of mitochondrial fatty acid oxidation
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:309115	"" []	1157317	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of mitochondrial fatty acid oxidation
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309115	"" []	2040386	\N	\N	EFO	4	EFO	genetic disorder	Disorder of mitochondrial fatty acid oxidation
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309115	"" []	2040387	\N	\N	EFO	4	EFO	metabolic disease	Disorder of mitochondrial fatty acid oxidation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309115	"" []	3190694	\N	\N	EFO	5	EFO	disease	Disorder of mitochondrial fatty acid oxidation
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309115	"" []	3190695	\N	\N	EFO	5	EFO	disease	Disorder of mitochondrial fatty acid oxidation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309115	"" []	4397520	\N	\N	EFO	6	EFO	disposition	Disorder of mitochondrial fatty acid oxidation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309115	"" []	5415015	\N	\N	EFO	7	EFO	material property	Disorder of mitochondrial fatty acid oxidation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309115	"" []	6151080	\N	\N	EFO	8	EFO	experimental factor	Disorder of mitochondrial fatty acid oxidation
Orphanet:309120	\N	\N	"" []	Orphanet:309120	"" []	76298	\N	\N	EFO	0	EFO	Acyl-CoA dehydrogenase deficiency	Acyl-CoA dehydrogenase deficiency
Orphanet:309115	Orphanet:309120	\N	"" []	Orphanet:309120	"" []	219211	\N	\N	EFO	1	EFO	Disorder of mitochondrial fatty acid oxidation	Acyl-CoA dehydrogenase deficiency
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:309120	"" []	574531	\N	\N	EFO	2	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Acyl-CoA dehydrogenase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:309120	"" []	1157318	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Acyl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:309120	"" []	2040388	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309120	"" []	3190696	\N	\N	EFO	5	EFO	genetic disorder	Acyl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309120	"" []	3190697	\N	\N	EFO	5	EFO	metabolic disease	Acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309120	"" []	4397521	\N	\N	EFO	6	EFO	disease	Acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309120	"" []	4397522	\N	\N	EFO	6	EFO	disease	Acyl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309120	"" []	5415016	\N	\N	EFO	7	EFO	disposition	Acyl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309120	"" []	6151081	\N	\N	EFO	8	EFO	material property	Acyl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309120	"" []	6633522	\N	\N	EFO	9	EFO	experimental factor	Acyl-CoA dehydrogenase deficiency
Orphanet:309127	\N	\N	"" []	Orphanet:309127	"" []	76299	\N	\N	EFO	0	EFO	3-hydroxyacyl-CoA dehydrogenase deficiency	3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:309115	Orphanet:309127	\N	"" []	Orphanet:309127	"" []	219212	\N	\N	EFO	1	EFO	Disorder of mitochondrial fatty acid oxidation	3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:309127	"" []	574532	\N	\N	EFO	2	EFO	Disorder of fatty acid oxidation and ketone body metabolism	3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:309127	"" []	1157319	\N	\N	EFO	3	EFO	Disorder of energy metabolism	3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:309127	"" []	2040389	\N	\N	EFO	4	EFO	Inborn errors of metabolism	3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309127	"" []	3190698	\N	\N	EFO	5	EFO	genetic disorder	3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309127	"" []	3190699	\N	\N	EFO	5	EFO	metabolic disease	3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309127	"" []	4397523	\N	\N	EFO	6	EFO	disease	3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309127	"" []	4397524	\N	\N	EFO	6	EFO	disease	3-hydroxyacyl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309127	"" []	5415017	\N	\N	EFO	7	EFO	disposition	3-hydroxyacyl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309127	"" []	6151082	\N	\N	EFO	8	EFO	material property	3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309127	"" []	6633523	\N	\N	EFO	9	EFO	experimental factor	3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:309130	\N	\N	"" []	Orphanet:309130	"" []	76300	\N	\N	EFO	0	EFO	Disorder of carnitine cycle and carnitine transport	Disorder of carnitine cycle and carnitine transport
Orphanet:79174	Orphanet:309130	\N	"" []	Orphanet:309130	"" []	219213	\N	\N	EFO	1	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Disorder of carnitine cycle and carnitine transport
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:309130	"" []	574533	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Disorder of carnitine cycle and carnitine transport
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:309130	"" []	1157320	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of carnitine cycle and carnitine transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309130	"" []	2040390	\N	\N	EFO	4	EFO	genetic disorder	Disorder of carnitine cycle and carnitine transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309130	"" []	2040391	\N	\N	EFO	4	EFO	metabolic disease	Disorder of carnitine cycle and carnitine transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309130	"" []	3190700	\N	\N	EFO	5	EFO	disease	Disorder of carnitine cycle and carnitine transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309130	"" []	3190701	\N	\N	EFO	5	EFO	disease	Disorder of carnitine cycle and carnitine transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309130	"" []	4397525	\N	\N	EFO	6	EFO	disposition	Disorder of carnitine cycle and carnitine transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309130	"" []	5415018	\N	\N	EFO	7	EFO	material property	Disorder of carnitine cycle and carnitine transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309130	"" []	6151083	\N	\N	EFO	8	EFO	experimental factor	Disorder of carnitine cycle and carnitine transport
Orphanet:309133	\N	\N	"" []	Orphanet:309133	"" []	76301	\N	\N	EFO	0	EFO	Metabolic disease due to other fatty acid oxidation disorder	Metabolic disease due to other fatty acid oxidation disorder
Orphanet:79174	Orphanet:309133	\N	"" []	Orphanet:309133	"" []	219214	\N	\N	EFO	1	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Metabolic disease due to other fatty acid oxidation disorder
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:309133	"" []	574534	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Metabolic disease due to other fatty acid oxidation disorder
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:309133	"" []	1157321	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Metabolic disease due to other fatty acid oxidation disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309133	"" []	2040392	\N	\N	EFO	4	EFO	genetic disorder	Metabolic disease due to other fatty acid oxidation disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309133	"" []	2040393	\N	\N	EFO	4	EFO	metabolic disease	Metabolic disease due to other fatty acid oxidation disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309133	"" []	3190702	\N	\N	EFO	5	EFO	disease	Metabolic disease due to other fatty acid oxidation disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309133	"" []	3190703	\N	\N	EFO	5	EFO	disease	Metabolic disease due to other fatty acid oxidation disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309133	"" []	4397526	\N	\N	EFO	6	EFO	disposition	Metabolic disease due to other fatty acid oxidation disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309133	"" []	5415019	\N	\N	EFO	7	EFO	material property	Metabolic disease due to other fatty acid oxidation disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309133	"" []	6151084	\N	\N	EFO	8	EFO	experimental factor	Metabolic disease due to other fatty acid oxidation disorder
Orphanet:309136	\N	\N	"" []	Orphanet:309136	"" []	76302	\N	\N	EFO	0	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:309136	"" []	219215	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:309136	"" []	574535	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:309136	"" []	1157322	\N	\N	EFO	3	EFO	Mitochondrial disease	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:309136	"" []	2040394	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:309136	"" []	2040395	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:309136	"" []	3190704	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:309136	"" []	3190705	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309136	"" []	4397527	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309136	"" []	4397528	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309136	"" []	4397529	\N	\N	EFO	6	EFO	metabolic disease	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309136	"" []	5415020	\N	\N	EFO	7	EFO	disease	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309136	"" []	5415021	\N	\N	EFO	7	EFO	disease	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309136	"" []	6151085	\N	\N	EFO	8	EFO	disposition	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309136	"" []	6633524	\N	\N	EFO	9	EFO	material property	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309136	"" []	6926028	\N	\N	EFO	10	EFO	experimental factor	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Orphanet:309144	\N	\N	"" []	Orphanet:309144	"" []	76303	\N	\N	EFO	0	EFO	Gangliosidosis	Gangliosidosis
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309144	"" []	219216	\N	\N	EFO	1	EFO	Sphingolipidosis	Gangliosidosis
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309144	"" []	574536	\N	\N	EFO	2	EFO	Lysosomal disease	Gangliosidosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309144	"" []	1157323	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Gangliosidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309144	"" []	2040396	\N	\N	EFO	4	EFO	genetic disorder	Gangliosidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309144	"" []	2040397	\N	\N	EFO	4	EFO	metabolic disease	Gangliosidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309144	"" []	3190706	\N	\N	EFO	5	EFO	disease	Gangliosidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309144	"" []	3190707	\N	\N	EFO	5	EFO	disease	Gangliosidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309144	"" []	4397530	\N	\N	EFO	6	EFO	disposition	Gangliosidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309144	"" []	5415022	\N	\N	EFO	7	EFO	material property	Gangliosidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309144	"" []	6151086	\N	\N	EFO	8	EFO	experimental factor	Gangliosidosis
Orphanet:309147	\N	\N	"" []	Orphanet:309147	"" []	76304	\N	\N	EFO	0	EFO	Hyper-beta-alaninemia	Hyper-beta-alaninemia
Orphanet:79193	Orphanet:309147	\N	"ANPM" []	Orphanet:309147	"" []	219217	\N	\N	EFO	1	EFO	Disorder of pyrimidine metabolism	Hyper-beta-alaninemia
Orphanet:79224	Orphanet:79193	\N	"" []	Orphanet:309147	"" []	574537	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Hyper-beta-alaninemia
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:309147	"" []	1157324	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hyper-beta-alaninemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309147	"" []	2040398	\N	\N	EFO	4	EFO	genetic disorder	Hyper-beta-alaninemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309147	"" []	2040399	\N	\N	EFO	4	EFO	metabolic disease	Hyper-beta-alaninemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309147	"" []	3190708	\N	\N	EFO	5	EFO	disease	Hyper-beta-alaninemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309147	"" []	3190709	\N	\N	EFO	5	EFO	disease	Hyper-beta-alaninemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309147	"" []	4397531	\N	\N	EFO	6	EFO	disposition	Hyper-beta-alaninemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309147	"" []	5415023	\N	\N	EFO	7	EFO	material property	Hyper-beta-alaninemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309147	"" []	6151087	\N	\N	EFO	8	EFO	experimental factor	Hyper-beta-alaninemia
Orphanet:309152	\N	\N	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	76305	\N	\N	EFO	0	EFO	GM2 gangliosidosis	GM2 gangliosidosis
Orphanet:183500	Orphanet:309152	\N	"" []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	219218	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	GM2 gangliosidosis
Orphanet:309144	Orphanet:309152	\N	"" []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	219219	\N	\N	EFO	1	EFO	Gangliosidosis	GM2 gangliosidosis
Orphanet:68385	Orphanet:309152	\N	"" []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	219220	\N	\N	EFO	1	EFO	Neurometabolic disease	GM2 gangliosidosis
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	574538	\N	\N	EFO	2	EFO	neurodegenerative disease	GM2 gangliosidosis
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	574539	\N	\N	EFO	2	EFO	brain disease	GM2 gangliosidosis
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	574540	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	GM2 gangliosidosis
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	574541	\N	\N	EFO	2	EFO	Sphingolipidosis	GM2 gangliosidosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	574542	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	GM2 gangliosidosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	1157325	\N	\N	EFO	3	EFO	nervous system disease	GM2 gangliosidosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	1157326	\N	\N	EFO	3	EFO	nervous system disease	GM2 gangliosidosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	1157327	\N	\N	EFO	3	EFO	genetic disorder	GM2 gangliosidosis
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	1157328	\N	\N	EFO	3	EFO	Lysosomal disease	GM2 gangliosidosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	2040400	\N	\N	EFO	4	EFO	disease	GM2 gangliosidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	4397533	\N	\N	EFO	6	EFO	disease	GM2 gangliosidosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	2040402	\N	\N	EFO	4	EFO	Inborn errors of metabolism	GM2 gangliosidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	5059964	\N	\N	EFO	7	EFO	disposition	GM2 gangliosidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	3190711	\N	\N	EFO	5	EFO	genetic disorder	GM2 gangliosidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	3190712	\N	\N	EFO	5	EFO	metabolic disease	GM2 gangliosidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	5877295	\N	\N	EFO	8	EFO	material property	GM2 gangliosidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	4397534	\N	\N	EFO	6	EFO	disease	GM2 gangliosidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309152	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	6470523	\N	\N	EFO	9	EFO	experimental factor	GM2 gangliosidosis
Orphanet:309155	\N	\N	"" []	Orphanet:309155	"" []	76306	\N	\N	EFO	0	EFO	Sandhoff disease, infantile form	Sandhoff disease, infantile form
Orphanet:796	Orphanet:309155	\N	"" []	Orphanet:309155	"" []	219221	\N	\N	EFO	1	EFO	Sandhoff disease	Sandhoff disease, infantile form
Orphanet:207018	Orphanet:796	\N	"" []	Orphanet:309155	"" []	574543	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Sandhoff disease, infantile form
Orphanet:309152	Orphanet:796	\N	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	Orphanet:309155	"" []	574544	\N	\N	EFO	2	EFO	GM2 gangliosidosis	Sandhoff disease, infantile form
Orphanet:98714	Orphanet:796	\N	"" []	Orphanet:309155	"" []	574545	\N	\N	EFO	2	EFO	Metabolic disease with macular cherry-red spot	Sandhoff disease, infantile form
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:309155	"" []	1157329	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Sandhoff disease, infantile form
Orphanet:183500	Orphanet:309152	\N	"" []	Orphanet:309155	"" []	1157330	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Sandhoff disease, infantile form
Orphanet:309144	Orphanet:309152	\N	"" []	Orphanet:309155	"" []	1157331	\N	\N	EFO	3	EFO	Gangliosidosis	Sandhoff disease, infantile form
Orphanet:68385	Orphanet:309152	\N	"" []	Orphanet:309155	"" []	1157332	\N	\N	EFO	3	EFO	Neurometabolic disease	Sandhoff disease, infantile form
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:309155	"" []	1157333	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Sandhoff disease, infantile form
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:309155	"" []	2040403	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Sandhoff disease, infantile form
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:309155	"" []	2040404	\N	\N	EFO	4	EFO	neurodegenerative disease	Sandhoff disease, infantile form
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:309155	"" []	2040405	\N	\N	EFO	4	EFO	brain disease	Sandhoff disease, infantile form
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:309155	"" []	2040406	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sandhoff disease, infantile form
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309155	"" []	2040407	\N	\N	EFO	4	EFO	Sphingolipidosis	Sandhoff disease, infantile form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309155	"" []	2040408	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sandhoff disease, infantile form
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309155	"" []	2040409	\N	\N	EFO	4	EFO	Rare genetic eye disease	Sandhoff disease, infantile form
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:309155	"" []	3190713	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Sandhoff disease, infantile form
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309155	"" []	3190714	\N	\N	EFO	5	EFO	nervous system disease	Sandhoff disease, infantile form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309155	"" []	3190715	\N	\N	EFO	5	EFO	nervous system disease	Sandhoff disease, infantile form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309155	"" []	4397535	\N	\N	EFO	6	EFO	genetic disorder	Sandhoff disease, infantile form
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309155	"" []	3190717	\N	\N	EFO	5	EFO	Lysosomal disease	Sandhoff disease, infantile form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309155	"" []	3190718	\N	\N	EFO	5	EFO	genetic disorder	Sandhoff disease, infantile form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309155	"" []	3190719	\N	\N	EFO	5	EFO	eye disease	Sandhoff disease, infantile form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309155	"" []	4397536	\N	\N	EFO	6	EFO	disease	Sandhoff disease, infantile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309155	"" []	6151089	\N	\N	EFO	8	EFO	disease	Sandhoff disease, infantile form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309155	"" []	4397538	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Sandhoff disease, infantile form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309155	"" []	4397539	\N	\N	EFO	6	EFO	disease	Sandhoff disease, infantile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309155	"" []	6470524	\N	\N	EFO	9	EFO	disposition	Sandhoff disease, infantile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309155	"" []	5415026	\N	\N	EFO	7	EFO	genetic disorder	Sandhoff disease, infantile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309155	"" []	5415027	\N	\N	EFO	7	EFO	metabolic disease	Sandhoff disease, infantile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309155	"" []	6848579	\N	\N	EFO	10	EFO	material property	Sandhoff disease, infantile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309155	"" []	6151090	\N	\N	EFO	8	EFO	disease	Sandhoff disease, infantile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309155	"" []	7068474	\N	\N	EFO	11	EFO	experimental factor	Sandhoff disease, infantile form
Orphanet:309162	\N	\N	"" []	Orphanet:309162	"" []	76307	\N	\N	EFO	0	EFO	Sandhoff disease, juvenile form	Sandhoff disease, juvenile form
Orphanet:796	Orphanet:309162	\N	"" []	Orphanet:309162	"" []	219222	\N	\N	EFO	1	EFO	Sandhoff disease	Sandhoff disease, juvenile form
Orphanet:207018	Orphanet:796	\N	"" []	Orphanet:309162	"" []	574546	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Sandhoff disease, juvenile form
Orphanet:309152	Orphanet:796	\N	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	Orphanet:309162	"" []	574547	\N	\N	EFO	2	EFO	GM2 gangliosidosis	Sandhoff disease, juvenile form
Orphanet:98714	Orphanet:796	\N	"" []	Orphanet:309162	"" []	574548	\N	\N	EFO	2	EFO	Metabolic disease with macular cherry-red spot	Sandhoff disease, juvenile form
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:309162	"" []	1157334	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Sandhoff disease, juvenile form
Orphanet:183500	Orphanet:309152	\N	"" []	Orphanet:309162	"" []	1157335	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Sandhoff disease, juvenile form
Orphanet:309144	Orphanet:309152	\N	"" []	Orphanet:309162	"" []	1157336	\N	\N	EFO	3	EFO	Gangliosidosis	Sandhoff disease, juvenile form
Orphanet:68385	Orphanet:309152	\N	"" []	Orphanet:309162	"" []	1157337	\N	\N	EFO	3	EFO	Neurometabolic disease	Sandhoff disease, juvenile form
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:309162	"" []	1157338	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Sandhoff disease, juvenile form
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:309162	"" []	2040410	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Sandhoff disease, juvenile form
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:309162	"" []	2040411	\N	\N	EFO	4	EFO	neurodegenerative disease	Sandhoff disease, juvenile form
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:309162	"" []	2040412	\N	\N	EFO	4	EFO	brain disease	Sandhoff disease, juvenile form
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:309162	"" []	2040413	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sandhoff disease, juvenile form
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309162	"" []	2040414	\N	\N	EFO	4	EFO	Sphingolipidosis	Sandhoff disease, juvenile form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309162	"" []	2040415	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sandhoff disease, juvenile form
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309162	"" []	2040416	\N	\N	EFO	4	EFO	Rare genetic eye disease	Sandhoff disease, juvenile form
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:309162	"" []	3190720	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Sandhoff disease, juvenile form
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309162	"" []	3190721	\N	\N	EFO	5	EFO	nervous system disease	Sandhoff disease, juvenile form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309162	"" []	3190722	\N	\N	EFO	5	EFO	nervous system disease	Sandhoff disease, juvenile form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309162	"" []	4397540	\N	\N	EFO	6	EFO	genetic disorder	Sandhoff disease, juvenile form
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309162	"" []	3190724	\N	\N	EFO	5	EFO	Lysosomal disease	Sandhoff disease, juvenile form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309162	"" []	3190725	\N	\N	EFO	5	EFO	genetic disorder	Sandhoff disease, juvenile form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309162	"" []	3190726	\N	\N	EFO	5	EFO	eye disease	Sandhoff disease, juvenile form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309162	"" []	4397541	\N	\N	EFO	6	EFO	disease	Sandhoff disease, juvenile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309162	"" []	6151092	\N	\N	EFO	8	EFO	disease	Sandhoff disease, juvenile form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309162	"" []	4397543	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Sandhoff disease, juvenile form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309162	"" []	4397544	\N	\N	EFO	6	EFO	disease	Sandhoff disease, juvenile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309162	"" []	6470525	\N	\N	EFO	9	EFO	disposition	Sandhoff disease, juvenile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309162	"" []	5415029	\N	\N	EFO	7	EFO	genetic disorder	Sandhoff disease, juvenile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309162	"" []	5415030	\N	\N	EFO	7	EFO	metabolic disease	Sandhoff disease, juvenile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309162	"" []	6848580	\N	\N	EFO	10	EFO	material property	Sandhoff disease, juvenile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309162	"" []	6151093	\N	\N	EFO	8	EFO	disease	Sandhoff disease, juvenile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309162	"" []	7068475	\N	\N	EFO	11	EFO	experimental factor	Sandhoff disease, juvenile form
Orphanet:309169	\N	\N	"" []	Orphanet:309169	"" []	76308	\N	\N	EFO	0	EFO	Sandhoff disease, adult form	Sandhoff disease, adult form
Orphanet:796	Orphanet:309169	\N	"" []	Orphanet:309169	"" []	219223	\N	\N	EFO	1	EFO	Sandhoff disease	Sandhoff disease, adult form
Orphanet:207018	Orphanet:796	\N	"" []	Orphanet:309169	"" []	574549	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Sandhoff disease, adult form
Orphanet:309152	Orphanet:796	\N	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	Orphanet:309169	"" []	574550	\N	\N	EFO	2	EFO	GM2 gangliosidosis	Sandhoff disease, adult form
Orphanet:98714	Orphanet:796	\N	"" []	Orphanet:309169	"" []	574551	\N	\N	EFO	2	EFO	Metabolic disease with macular cherry-red spot	Sandhoff disease, adult form
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:309169	"" []	1157339	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Sandhoff disease, adult form
Orphanet:183500	Orphanet:309152	\N	"" []	Orphanet:309169	"" []	1157340	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Sandhoff disease, adult form
Orphanet:309144	Orphanet:309152	\N	"" []	Orphanet:309169	"" []	1157341	\N	\N	EFO	3	EFO	Gangliosidosis	Sandhoff disease, adult form
Orphanet:68385	Orphanet:309152	\N	"" []	Orphanet:309169	"" []	1157342	\N	\N	EFO	3	EFO	Neurometabolic disease	Sandhoff disease, adult form
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:309169	"" []	1157343	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Sandhoff disease, adult form
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:309169	"" []	2040417	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Sandhoff disease, adult form
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:309169	"" []	2040418	\N	\N	EFO	4	EFO	neurodegenerative disease	Sandhoff disease, adult form
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:309169	"" []	2040419	\N	\N	EFO	4	EFO	brain disease	Sandhoff disease, adult form
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:309169	"" []	2040420	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sandhoff disease, adult form
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309169	"" []	2040421	\N	\N	EFO	4	EFO	Sphingolipidosis	Sandhoff disease, adult form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309169	"" []	2040422	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sandhoff disease, adult form
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309169	"" []	2040423	\N	\N	EFO	4	EFO	Rare genetic eye disease	Sandhoff disease, adult form
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:309169	"" []	3190727	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Sandhoff disease, adult form
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309169	"" []	3190728	\N	\N	EFO	5	EFO	nervous system disease	Sandhoff disease, adult form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309169	"" []	3190729	\N	\N	EFO	5	EFO	nervous system disease	Sandhoff disease, adult form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309169	"" []	4397545	\N	\N	EFO	6	EFO	genetic disorder	Sandhoff disease, adult form
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309169	"" []	3190731	\N	\N	EFO	5	EFO	Lysosomal disease	Sandhoff disease, adult form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309169	"" []	3190732	\N	\N	EFO	5	EFO	genetic disorder	Sandhoff disease, adult form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309169	"" []	3190733	\N	\N	EFO	5	EFO	eye disease	Sandhoff disease, adult form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309169	"" []	4397546	\N	\N	EFO	6	EFO	disease	Sandhoff disease, adult form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309169	"" []	6151095	\N	\N	EFO	8	EFO	disease	Sandhoff disease, adult form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309169	"" []	4397548	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Sandhoff disease, adult form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309169	"" []	4397549	\N	\N	EFO	6	EFO	disease	Sandhoff disease, adult form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309169	"" []	6470526	\N	\N	EFO	9	EFO	disposition	Sandhoff disease, adult form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309169	"" []	5415032	\N	\N	EFO	7	EFO	genetic disorder	Sandhoff disease, adult form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309169	"" []	5415033	\N	\N	EFO	7	EFO	metabolic disease	Sandhoff disease, adult form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309169	"" []	6848581	\N	\N	EFO	10	EFO	material property	Sandhoff disease, adult form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309169	"" []	6151096	\N	\N	EFO	8	EFO	disease	Sandhoff disease, adult form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309169	"" []	7068476	\N	\N	EFO	11	EFO	experimental factor	Sandhoff disease, adult form
Orphanet:309178	\N	\N	"" []	Orphanet:309178	"" []	76309	\N	\N	EFO	0	EFO	Tay-Sachs disease, B variant, infantile form	Tay-Sachs disease, B variant, infantile form
Orphanet:845	Orphanet:309178	\N	"" []	Orphanet:309178	"" []	219224	\N	\N	EFO	1	EFO	Tay-Sachs disease	Tay-Sachs disease, B variant, infantile form
Orphanet:207018	Orphanet:845	\N	"" []	Orphanet:309178	"" []	574552	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Tay-Sachs disease, B variant, infantile form
Orphanet:309152	Orphanet:845	\N	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	Orphanet:309178	"" []	574553	\N	\N	EFO	2	EFO	GM2 gangliosidosis	Tay-Sachs disease, B variant, infantile form
Orphanet:98714	Orphanet:845	\N	"" []	Orphanet:309178	"" []	574554	\N	\N	EFO	2	EFO	Metabolic disease with macular cherry-red spot	Tay-Sachs disease, B variant, infantile form
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:309178	"" []	1157344	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Tay-Sachs disease, B variant, infantile form
Orphanet:183500	Orphanet:309152	\N	"" []	Orphanet:309178	"" []	1157345	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Tay-Sachs disease, B variant, infantile form
Orphanet:309144	Orphanet:309152	\N	"" []	Orphanet:309178	"" []	1157346	\N	\N	EFO	3	EFO	Gangliosidosis	Tay-Sachs disease, B variant, infantile form
Orphanet:68385	Orphanet:309152	\N	"" []	Orphanet:309178	"" []	1157347	\N	\N	EFO	3	EFO	Neurometabolic disease	Tay-Sachs disease, B variant, infantile form
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:309178	"" []	1157348	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Tay-Sachs disease, B variant, infantile form
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:309178	"" []	2040424	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Tay-Sachs disease, B variant, infantile form
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:309178	"" []	2040425	\N	\N	EFO	4	EFO	neurodegenerative disease	Tay-Sachs disease, B variant, infantile form
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:309178	"" []	2040426	\N	\N	EFO	4	EFO	brain disease	Tay-Sachs disease, B variant, infantile form
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:309178	"" []	2040427	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Tay-Sachs disease, B variant, infantile form
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309178	"" []	2040428	\N	\N	EFO	4	EFO	Sphingolipidosis	Tay-Sachs disease, B variant, infantile form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309178	"" []	2040429	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Tay-Sachs disease, B variant, infantile form
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309178	"" []	2040430	\N	\N	EFO	4	EFO	Rare genetic eye disease	Tay-Sachs disease, B variant, infantile form
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:309178	"" []	3190734	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Tay-Sachs disease, B variant, infantile form
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309178	"" []	3190735	\N	\N	EFO	5	EFO	nervous system disease	Tay-Sachs disease, B variant, infantile form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309178	"" []	3190736	\N	\N	EFO	5	EFO	nervous system disease	Tay-Sachs disease, B variant, infantile form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309178	"" []	4397550	\N	\N	EFO	6	EFO	genetic disorder	Tay-Sachs disease, B variant, infantile form
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309178	"" []	3190738	\N	\N	EFO	5	EFO	Lysosomal disease	Tay-Sachs disease, B variant, infantile form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309178	"" []	3190739	\N	\N	EFO	5	EFO	genetic disorder	Tay-Sachs disease, B variant, infantile form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309178	"" []	3190740	\N	\N	EFO	5	EFO	eye disease	Tay-Sachs disease, B variant, infantile form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309178	"" []	4397551	\N	\N	EFO	6	EFO	disease	Tay-Sachs disease, B variant, infantile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309178	"" []	6151098	\N	\N	EFO	8	EFO	disease	Tay-Sachs disease, B variant, infantile form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309178	"" []	4397553	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Tay-Sachs disease, B variant, infantile form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309178	"" []	4397554	\N	\N	EFO	6	EFO	disease	Tay-Sachs disease, B variant, infantile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309178	"" []	6470527	\N	\N	EFO	9	EFO	disposition	Tay-Sachs disease, B variant, infantile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309178	"" []	5415035	\N	\N	EFO	7	EFO	genetic disorder	Tay-Sachs disease, B variant, infantile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309178	"" []	5415036	\N	\N	EFO	7	EFO	metabolic disease	Tay-Sachs disease, B variant, infantile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309178	"" []	6848582	\N	\N	EFO	10	EFO	material property	Tay-Sachs disease, B variant, infantile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309178	"" []	6151099	\N	\N	EFO	8	EFO	disease	Tay-Sachs disease, B variant, infantile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309178	"" []	7068477	\N	\N	EFO	11	EFO	experimental factor	Tay-Sachs disease, B variant, infantile form
Orphanet:309185	\N	\N	"" []	Orphanet:309185	"" []	76310	\N	\N	EFO	0	EFO	Tay-Sachs disease, B variant, juvenile form	Tay-Sachs disease, B variant, juvenile form
Orphanet:845	Orphanet:309185	\N	"" []	Orphanet:309185	"" []	219225	\N	\N	EFO	1	EFO	Tay-Sachs disease	Tay-Sachs disease, B variant, juvenile form
Orphanet:207018	Orphanet:845	\N	"" []	Orphanet:309185	"" []	574555	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Tay-Sachs disease, B variant, juvenile form
Orphanet:309152	Orphanet:845	\N	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	Orphanet:309185	"" []	574556	\N	\N	EFO	2	EFO	GM2 gangliosidosis	Tay-Sachs disease, B variant, juvenile form
Orphanet:98714	Orphanet:845	\N	"" []	Orphanet:309185	"" []	574557	\N	\N	EFO	2	EFO	Metabolic disease with macular cherry-red spot	Tay-Sachs disease, B variant, juvenile form
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:309185	"" []	1157349	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Tay-Sachs disease, B variant, juvenile form
Orphanet:183500	Orphanet:309152	\N	"" []	Orphanet:309185	"" []	1157350	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Tay-Sachs disease, B variant, juvenile form
Orphanet:309144	Orphanet:309152	\N	"" []	Orphanet:309185	"" []	1157351	\N	\N	EFO	3	EFO	Gangliosidosis	Tay-Sachs disease, B variant, juvenile form
Orphanet:68385	Orphanet:309152	\N	"" []	Orphanet:309185	"" []	1157352	\N	\N	EFO	3	EFO	Neurometabolic disease	Tay-Sachs disease, B variant, juvenile form
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:309185	"" []	1157353	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Tay-Sachs disease, B variant, juvenile form
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:309185	"" []	2040431	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Tay-Sachs disease, B variant, juvenile form
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:309185	"" []	2040432	\N	\N	EFO	4	EFO	neurodegenerative disease	Tay-Sachs disease, B variant, juvenile form
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:309185	"" []	2040433	\N	\N	EFO	4	EFO	brain disease	Tay-Sachs disease, B variant, juvenile form
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:309185	"" []	2040434	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Tay-Sachs disease, B variant, juvenile form
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309185	"" []	2040435	\N	\N	EFO	4	EFO	Sphingolipidosis	Tay-Sachs disease, B variant, juvenile form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309185	"" []	2040436	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Tay-Sachs disease, B variant, juvenile form
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309185	"" []	2040437	\N	\N	EFO	4	EFO	Rare genetic eye disease	Tay-Sachs disease, B variant, juvenile form
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:309185	"" []	3190741	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Tay-Sachs disease, B variant, juvenile form
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309185	"" []	3190742	\N	\N	EFO	5	EFO	nervous system disease	Tay-Sachs disease, B variant, juvenile form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309185	"" []	3190743	\N	\N	EFO	5	EFO	nervous system disease	Tay-Sachs disease, B variant, juvenile form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309185	"" []	4397555	\N	\N	EFO	6	EFO	genetic disorder	Tay-Sachs disease, B variant, juvenile form
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309185	"" []	3190745	\N	\N	EFO	5	EFO	Lysosomal disease	Tay-Sachs disease, B variant, juvenile form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309185	"" []	3190746	\N	\N	EFO	5	EFO	genetic disorder	Tay-Sachs disease, B variant, juvenile form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309185	"" []	3190747	\N	\N	EFO	5	EFO	eye disease	Tay-Sachs disease, B variant, juvenile form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309185	"" []	4397556	\N	\N	EFO	6	EFO	disease	Tay-Sachs disease, B variant, juvenile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309185	"" []	6151101	\N	\N	EFO	8	EFO	disease	Tay-Sachs disease, B variant, juvenile form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309185	"" []	4397558	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Tay-Sachs disease, B variant, juvenile form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309185	"" []	4397559	\N	\N	EFO	6	EFO	disease	Tay-Sachs disease, B variant, juvenile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309185	"" []	6470528	\N	\N	EFO	9	EFO	disposition	Tay-Sachs disease, B variant, juvenile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309185	"" []	5415038	\N	\N	EFO	7	EFO	genetic disorder	Tay-Sachs disease, B variant, juvenile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309185	"" []	5415039	\N	\N	EFO	7	EFO	metabolic disease	Tay-Sachs disease, B variant, juvenile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309185	"" []	6848583	\N	\N	EFO	10	EFO	material property	Tay-Sachs disease, B variant, juvenile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309185	"" []	6151102	\N	\N	EFO	8	EFO	disease	Tay-Sachs disease, B variant, juvenile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309185	"" []	7068478	\N	\N	EFO	11	EFO	experimental factor	Tay-Sachs disease, B variant, juvenile form
Orphanet:309192	\N	\N	"" []	Orphanet:309192	"" []	76311	\N	\N	EFO	0	EFO	Tay-Sachs disease, B variant, adult form	Tay-Sachs disease, B variant, adult form
Orphanet:845	Orphanet:309192	\N	"" []	Orphanet:309192	"" []	219226	\N	\N	EFO	1	EFO	Tay-Sachs disease	Tay-Sachs disease, B variant, adult form
Orphanet:207018	Orphanet:845	\N	"" []	Orphanet:309192	"" []	574558	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Tay-Sachs disease, B variant, adult form
Orphanet:309152	Orphanet:845	\N	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	Orphanet:309192	"" []	574559	\N	\N	EFO	2	EFO	GM2 gangliosidosis	Tay-Sachs disease, B variant, adult form
Orphanet:98714	Orphanet:845	\N	"" []	Orphanet:309192	"" []	574560	\N	\N	EFO	2	EFO	Metabolic disease with macular cherry-red spot	Tay-Sachs disease, B variant, adult form
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:309192	"" []	1157354	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Tay-Sachs disease, B variant, adult form
Orphanet:183500	Orphanet:309152	\N	"" []	Orphanet:309192	"" []	1157355	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Tay-Sachs disease, B variant, adult form
Orphanet:309144	Orphanet:309152	\N	"" []	Orphanet:309192	"" []	1157356	\N	\N	EFO	3	EFO	Gangliosidosis	Tay-Sachs disease, B variant, adult form
Orphanet:68385	Orphanet:309152	\N	"" []	Orphanet:309192	"" []	1157357	\N	\N	EFO	3	EFO	Neurometabolic disease	Tay-Sachs disease, B variant, adult form
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:309192	"" []	1157358	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Tay-Sachs disease, B variant, adult form
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:309192	"" []	2040438	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Tay-Sachs disease, B variant, adult form
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:309192	"" []	2040439	\N	\N	EFO	4	EFO	neurodegenerative disease	Tay-Sachs disease, B variant, adult form
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:309192	"" []	2040440	\N	\N	EFO	4	EFO	brain disease	Tay-Sachs disease, B variant, adult form
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:309192	"" []	2040441	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Tay-Sachs disease, B variant, adult form
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309192	"" []	2040442	\N	\N	EFO	4	EFO	Sphingolipidosis	Tay-Sachs disease, B variant, adult form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309192	"" []	2040443	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Tay-Sachs disease, B variant, adult form
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309192	"" []	2040444	\N	\N	EFO	4	EFO	Rare genetic eye disease	Tay-Sachs disease, B variant, adult form
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:309192	"" []	3190748	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Tay-Sachs disease, B variant, adult form
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309192	"" []	3190749	\N	\N	EFO	5	EFO	nervous system disease	Tay-Sachs disease, B variant, adult form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309192	"" []	3190750	\N	\N	EFO	5	EFO	nervous system disease	Tay-Sachs disease, B variant, adult form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309192	"" []	4397560	\N	\N	EFO	6	EFO	genetic disorder	Tay-Sachs disease, B variant, adult form
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309192	"" []	3190752	\N	\N	EFO	5	EFO	Lysosomal disease	Tay-Sachs disease, B variant, adult form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309192	"" []	3190753	\N	\N	EFO	5	EFO	genetic disorder	Tay-Sachs disease, B variant, adult form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309192	"" []	3190754	\N	\N	EFO	5	EFO	eye disease	Tay-Sachs disease, B variant, adult form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309192	"" []	4397561	\N	\N	EFO	6	EFO	disease	Tay-Sachs disease, B variant, adult form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309192	"" []	6151104	\N	\N	EFO	8	EFO	disease	Tay-Sachs disease, B variant, adult form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309192	"" []	4397563	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Tay-Sachs disease, B variant, adult form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309192	"" []	4397564	\N	\N	EFO	6	EFO	disease	Tay-Sachs disease, B variant, adult form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309192	"" []	6470529	\N	\N	EFO	9	EFO	disposition	Tay-Sachs disease, B variant, adult form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309192	"" []	5415041	\N	\N	EFO	7	EFO	genetic disorder	Tay-Sachs disease, B variant, adult form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309192	"" []	5415042	\N	\N	EFO	7	EFO	metabolic disease	Tay-Sachs disease, B variant, adult form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309192	"" []	6848584	\N	\N	EFO	10	EFO	material property	Tay-Sachs disease, B variant, adult form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309192	"" []	6151105	\N	\N	EFO	8	EFO	disease	Tay-Sachs disease, B variant, adult form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309192	"" []	7068479	\N	\N	EFO	11	EFO	experimental factor	Tay-Sachs disease, B variant, adult form
Orphanet:309239	\N	\N	"" []	Orphanet:309239	"" []	76312	\N	\N	EFO	0	EFO	Tay-Sachs disease, B1 variant	Tay-Sachs disease, B1 variant
Orphanet:845	Orphanet:309239	\N	"" []	Orphanet:309239	"" []	219227	\N	\N	EFO	1	EFO	Tay-Sachs disease	Tay-Sachs disease, B1 variant
Orphanet:207018	Orphanet:845	\N	"" []	Orphanet:309239	"" []	574561	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Tay-Sachs disease, B1 variant
Orphanet:309152	Orphanet:845	\N	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	Orphanet:309239	"" []	574562	\N	\N	EFO	2	EFO	GM2 gangliosidosis	Tay-Sachs disease, B1 variant
Orphanet:98714	Orphanet:845	\N	"" []	Orphanet:309239	"" []	574563	\N	\N	EFO	2	EFO	Metabolic disease with macular cherry-red spot	Tay-Sachs disease, B1 variant
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:309239	"" []	1157359	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Tay-Sachs disease, B1 variant
Orphanet:183500	Orphanet:309152	\N	"" []	Orphanet:309239	"" []	1157360	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Tay-Sachs disease, B1 variant
Orphanet:309144	Orphanet:309152	\N	"" []	Orphanet:309239	"" []	1157361	\N	\N	EFO	3	EFO	Gangliosidosis	Tay-Sachs disease, B1 variant
Orphanet:68385	Orphanet:309152	\N	"" []	Orphanet:309239	"" []	1157362	\N	\N	EFO	3	EFO	Neurometabolic disease	Tay-Sachs disease, B1 variant
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:309239	"" []	1157363	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Tay-Sachs disease, B1 variant
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:309239	"" []	2040445	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Tay-Sachs disease, B1 variant
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:309239	"" []	2040446	\N	\N	EFO	4	EFO	neurodegenerative disease	Tay-Sachs disease, B1 variant
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:309239	"" []	2040447	\N	\N	EFO	4	EFO	brain disease	Tay-Sachs disease, B1 variant
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:309239	"" []	2040448	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Tay-Sachs disease, B1 variant
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309239	"" []	2040449	\N	\N	EFO	4	EFO	Sphingolipidosis	Tay-Sachs disease, B1 variant
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309239	"" []	2040450	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Tay-Sachs disease, B1 variant
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309239	"" []	2040451	\N	\N	EFO	4	EFO	Rare genetic eye disease	Tay-Sachs disease, B1 variant
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:309239	"" []	3190755	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Tay-Sachs disease, B1 variant
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309239	"" []	3190756	\N	\N	EFO	5	EFO	nervous system disease	Tay-Sachs disease, B1 variant
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309239	"" []	3190757	\N	\N	EFO	5	EFO	nervous system disease	Tay-Sachs disease, B1 variant
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309239	"" []	4397565	\N	\N	EFO	6	EFO	genetic disorder	Tay-Sachs disease, B1 variant
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309239	"" []	3190759	\N	\N	EFO	5	EFO	Lysosomal disease	Tay-Sachs disease, B1 variant
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309239	"" []	3190760	\N	\N	EFO	5	EFO	genetic disorder	Tay-Sachs disease, B1 variant
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309239	"" []	3190761	\N	\N	EFO	5	EFO	eye disease	Tay-Sachs disease, B1 variant
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309239	"" []	4397566	\N	\N	EFO	6	EFO	disease	Tay-Sachs disease, B1 variant
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309239	"" []	6151107	\N	\N	EFO	8	EFO	disease	Tay-Sachs disease, B1 variant
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309239	"" []	4397568	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Tay-Sachs disease, B1 variant
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309239	"" []	4397569	\N	\N	EFO	6	EFO	disease	Tay-Sachs disease, B1 variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309239	"" []	6470530	\N	\N	EFO	9	EFO	disposition	Tay-Sachs disease, B1 variant
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309239	"" []	5415044	\N	\N	EFO	7	EFO	genetic disorder	Tay-Sachs disease, B1 variant
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309239	"" []	5415045	\N	\N	EFO	7	EFO	metabolic disease	Tay-Sachs disease, B1 variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309239	"" []	6848585	\N	\N	EFO	10	EFO	material property	Tay-Sachs disease, B1 variant
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309239	"" []	6151108	\N	\N	EFO	8	EFO	disease	Tay-Sachs disease, B1 variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309239	"" []	7068480	\N	\N	EFO	11	EFO	experimental factor	Tay-Sachs disease, B1 variant
Orphanet:30924	\N	\N	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	76313	\N	\N	EFO	0	EFO	Primary hypomagnesemia with secondary hypocalcemia	Primary hypomagnesemia with secondary hypocalcemia
Orphanet:306522	Orphanet:30924	\N	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	219228	\N	\N	EFO	1	EFO	Familial primary hypomagnesemia with normocalcuria	Primary hypomagnesemia with secondary hypocalcemia
Orphanet:34526	Orphanet:306522	\N	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	574564	\N	\N	EFO	2	EFO	Familial primary hypomagnesemia	Primary hypomagnesemia with secondary hypocalcemia
Orphanet:183592	Orphanet:34526	\N	"" []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	1157364	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Primary hypomagnesemia with secondary hypocalcemia
Orphanet:309848	Orphanet:34526	\N	"" []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	1157365	\N	\N	EFO	3	EFO	Disorder of magnesium transport	Primary hypomagnesemia with secondary hypocalcemia
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	2040452	\N	\N	EFO	4	EFO	Rare genetic renal disease	Primary hypomagnesemia with secondary hypocalcemia
Orphanet:309836	Orphanet:309848	\N	"" []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	2040453	\N	\N	EFO	4	EFO	Disorder of mineral absorption and transport	Primary hypomagnesemia with secondary hypocalcemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	3190762	\N	\N	EFO	5	EFO	genetic disorder	Primary hypomagnesemia with secondary hypocalcemia
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	3190763	\N	\N	EFO	5	EFO	Disorder of metabolite absorption and transport	Primary hypomagnesemia with secondary hypocalcemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	6151110	\N	\N	EFO	8	EFO	disease	Primary hypomagnesemia with secondary hypocalcemia
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	4397571	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Primary hypomagnesemia with secondary hypocalcemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	6470531	\N	\N	EFO	9	EFO	disposition	Primary hypomagnesemia with secondary hypocalcemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	5415047	\N	\N	EFO	7	EFO	genetic disorder	Primary hypomagnesemia with secondary hypocalcemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	5415048	\N	\N	EFO	7	EFO	metabolic disease	Primary hypomagnesemia with secondary hypocalcemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	6848586	\N	\N	EFO	10	EFO	material property	Primary hypomagnesemia with secondary hypocalcemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	6151111	\N	\N	EFO	8	EFO	disease	Primary hypomagnesemia with secondary hypocalcemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:30924	"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." []	7068481	\N	\N	EFO	11	EFO	experimental factor	Primary hypomagnesemia with secondary hypocalcemia
Orphanet:309246	\N	\N	"" []	Orphanet:309246	"" []	76314	\N	\N	EFO	0	EFO	GM2-gangliosidosis, AB variant	GM2-gangliosidosis, AB variant
Orphanet:309152	Orphanet:309246	\N	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	Orphanet:309246	"" []	219229	\N	\N	EFO	1	EFO	GM2 gangliosidosis	GM2-gangliosidosis, AB variant
Orphanet:183500	Orphanet:309152	\N	"" []	Orphanet:309246	"" []	574565	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	GM2-gangliosidosis, AB variant
Orphanet:309144	Orphanet:309152	\N	"" []	Orphanet:309246	"" []	574566	\N	\N	EFO	2	EFO	Gangliosidosis	GM2-gangliosidosis, AB variant
Orphanet:68385	Orphanet:309152	\N	"" []	Orphanet:309246	"" []	574567	\N	\N	EFO	2	EFO	Neurometabolic disease	GM2-gangliosidosis, AB variant
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:309246	"" []	1157366	\N	\N	EFO	3	EFO	neurodegenerative disease	GM2-gangliosidosis, AB variant
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:309246	"" []	1157367	\N	\N	EFO	3	EFO	brain disease	GM2-gangliosidosis, AB variant
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:309246	"" []	1157368	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	GM2-gangliosidosis, AB variant
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309246	"" []	1157369	\N	\N	EFO	3	EFO	Sphingolipidosis	GM2-gangliosidosis, AB variant
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309246	"" []	1157370	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	GM2-gangliosidosis, AB variant
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309246	"" []	2040454	\N	\N	EFO	4	EFO	nervous system disease	GM2-gangliosidosis, AB variant
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309246	"" []	2040455	\N	\N	EFO	4	EFO	nervous system disease	GM2-gangliosidosis, AB variant
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309246	"" []	2040456	\N	\N	EFO	4	EFO	genetic disorder	GM2-gangliosidosis, AB variant
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309246	"" []	2040457	\N	\N	EFO	4	EFO	Lysosomal disease	GM2-gangliosidosis, AB variant
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309246	"" []	3190764	\N	\N	EFO	5	EFO	disease	GM2-gangliosidosis, AB variant
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309246	"" []	5415050	\N	\N	EFO	7	EFO	disease	GM2-gangliosidosis, AB variant
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309246	"" []	3190766	\N	\N	EFO	5	EFO	Inborn errors of metabolism	GM2-gangliosidosis, AB variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309246	"" []	5877296	\N	\N	EFO	8	EFO	disposition	GM2-gangliosidosis, AB variant
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309246	"" []	4397573	\N	\N	EFO	6	EFO	genetic disorder	GM2-gangliosidosis, AB variant
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309246	"" []	4397574	\N	\N	EFO	6	EFO	metabolic disease	GM2-gangliosidosis, AB variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309246	"" []	6470532	\N	\N	EFO	9	EFO	material property	GM2-gangliosidosis, AB variant
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309246	"" []	5415051	\N	\N	EFO	7	EFO	disease	GM2-gangliosidosis, AB variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309246	"" []	6848587	\N	\N	EFO	10	EFO	experimental factor	GM2-gangliosidosis, AB variant
Orphanet:30925	\N	\N	"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." []	Orphanet:30925	"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." []	76315	\N	\N	EFO	0	EFO	Hereditary central diabetes insipidus	Hereditary central diabetes insipidus
Orphanet:101957	Orphanet:30925	\N	"" []	Orphanet:30925	"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." []	219230	\N	\N	EFO	1	EFO	Pituitary deficiency	Hereditary central diabetes insipidus
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:30925	"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." []	574568	\N	\N	EFO	2	EFO	Rare genetic hypothalamic or pituitary disease	Hereditary central diabetes insipidus
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:30925	"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." []	1157371	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Hereditary central diabetes insipidus
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:30925	"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." []	2040458	\N	\N	EFO	4	EFO	genetic disorder	Hereditary central diabetes insipidus
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:30925	"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." []	2040459	\N	\N	EFO	4	EFO	endocrine system disease	Hereditary central diabetes insipidus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:30925	"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." []	3190767	\N	\N	EFO	5	EFO	disease	Hereditary central diabetes insipidus
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:30925	"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." []	3190768	\N	\N	EFO	5	EFO	disease	Hereditary central diabetes insipidus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:30925	"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." []	4397575	\N	\N	EFO	6	EFO	disposition	Hereditary central diabetes insipidus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:30925	"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." []	5415052	\N	\N	EFO	7	EFO	material property	Hereditary central diabetes insipidus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:30925	"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." []	6151113	\N	\N	EFO	8	EFO	experimental factor	Hereditary central diabetes insipidus
Orphanet:309252	\N	\N	"" []	Orphanet:309252	"" []	76316	\N	\N	EFO	0	EFO	Atypical Gaucher disease due to saposin C deficiency	Atypical Gaucher disease due to saposin C deficiency
Orphanet:355	Orphanet:309252	\N	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	Orphanet:309252	"" []	219231	\N	\N	EFO	1	EFO	Gaucher disease	Atypical Gaucher disease due to saposin C deficiency
Orphanet:217638	Orphanet:355	\N	"" []	Orphanet:309252	"" []	574569	\N	\N	EFO	2	EFO	Lysosomal disease with restrictive cardiomyopathy	Atypical Gaucher disease due to saposin C deficiency
Orphanet:79225	Orphanet:355	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309252	"" []	574570	\N	\N	EFO	2	EFO	Sphingolipidosis	Atypical Gaucher disease due to saposin C deficiency
Orphanet:98688	Orphanet:355	\N	"" []	Orphanet:309252	"" []	574571	\N	\N	EFO	2	EFO	Oculomotor apraxia or related oculomotor disease	Atypical Gaucher disease due to saposin C deficiency
Orphanet:98711	Orphanet:355	\N	"" []	Orphanet:309252	"" []	574572	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Atypical Gaucher disease due to saposin C deficiency
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:309252	"" []	1157372	\N	\N	EFO	3	EFO	Familial restrictive cardiomyopathy	Atypical Gaucher disease due to saposin C deficiency
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309252	"" []	1157373	\N	\N	EFO	3	EFO	Lysosomal disease	Atypical Gaucher disease due to saposin C deficiency
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:309252	"" []	1157374	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Atypical Gaucher disease due to saposin C deficiency
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:309252	"" []	1157375	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Atypical Gaucher disease due to saposin C deficiency
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:309252	"" []	2040460	\N	\N	EFO	4	EFO	cardiomyopathy	Atypical Gaucher disease due to saposin C deficiency
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:309252	"" []	2040461	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Atypical Gaucher disease due to saposin C deficiency
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309252	"" []	2040462	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Atypical Gaucher disease due to saposin C deficiency
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:309252	"" []	2040463	\N	\N	EFO	4	EFO	Rare genetic eye disease	Atypical Gaucher disease due to saposin C deficiency
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309252	"" []	2040464	\N	\N	EFO	4	EFO	Rare genetic eye disease	Atypical Gaucher disease due to saposin C deficiency
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:309252	"" []	3190769	\N	\N	EFO	5	EFO	heart disease	Atypical Gaucher disease due to saposin C deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309252	"" []	3190770	\N	\N	EFO	5	EFO	genetic disorder	Atypical Gaucher disease due to saposin C deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:309252	"" []	3190771	\N	\N	EFO	5	EFO	heart disease	Atypical Gaucher disease due to saposin C deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309252	"" []	3190772	\N	\N	EFO	5	EFO	genetic disorder	Atypical Gaucher disease due to saposin C deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309252	"" []	3190773	\N	\N	EFO	5	EFO	metabolic disease	Atypical Gaucher disease due to saposin C deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309252	"" []	3190774	\N	\N	EFO	5	EFO	genetic disorder	Atypical Gaucher disease due to saposin C deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309252	"" []	3190775	\N	\N	EFO	5	EFO	eye disease	Atypical Gaucher disease due to saposin C deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:309252	"" []	4397576	\N	\N	EFO	6	EFO	cardiovascular disease	Atypical Gaucher disease due to saposin C deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309252	"" []	4397577	\N	\N	EFO	6	EFO	disease	Atypical Gaucher disease due to saposin C deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309252	"" []	4397578	\N	\N	EFO	6	EFO	disease	Atypical Gaucher disease due to saposin C deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309252	"" []	4397579	\N	\N	EFO	6	EFO	disease	Atypical Gaucher disease due to saposin C deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309252	"" []	5415053	\N	\N	EFO	7	EFO	disease	Atypical Gaucher disease due to saposin C deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309252	"" []	6151114	\N	\N	EFO	8	EFO	disposition	Atypical Gaucher disease due to saposin C deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309252	"" []	6551276	\N	\N	EFO	9	EFO	material property	Atypical Gaucher disease due to saposin C deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309252	"" []	6889386	\N	\N	EFO	10	EFO	experimental factor	Atypical Gaucher disease due to saposin C deficiency
Orphanet:309256	\N	\N	"" []	Orphanet:309256	"" []	76317	\N	\N	EFO	0	EFO	Metachromatic leukodystrophy, late infantile form	Metachromatic leukodystrophy, late infantile form
Orphanet:512	Orphanet:309256	\N	"" []	Orphanet:309256	"" []	219232	\N	\N	EFO	1	EFO	Metachromatic leukodystrophy	Metachromatic leukodystrophy, late infantile form
Orphanet:207018	Orphanet:512	\N	"" []	Orphanet:309256	"" []	574573	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Metachromatic leukodystrophy, late infantile form
Orphanet:68356	Orphanet:512	\N	"" []	Orphanet:309256	"" []	574574	\N	\N	EFO	2	EFO	Leukodystrophy	Metachromatic leukodystrophy, late infantile form
Orphanet:68385	Orphanet:512	\N	"" []	Orphanet:309256	"" []	574575	\N	\N	EFO	2	EFO	Neurometabolic disease	Metachromatic leukodystrophy, late infantile form
Orphanet:79225	Orphanet:512	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309256	"" []	574576	\N	\N	EFO	2	EFO	Sphingolipidosis	Metachromatic leukodystrophy, late infantile form
Orphanet:98543	Orphanet:512	\N	"" []	Orphanet:309256	"" []	574577	\N	\N	EFO	2	EFO	Metabolic disease with dementia	Metachromatic leukodystrophy, late infantile form
Orphanet:98666	Orphanet:512	\N	"" []	Orphanet:309256	"" []	574578	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Metachromatic leukodystrophy, late infantile form
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:309256	"" []	1157376	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Metachromatic leukodystrophy, late infantile form
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:309256	"" []	1157377	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy, late infantile form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309256	"" []	1157378	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy, late infantile form
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309256	"" []	1157379	\N	\N	EFO	3	EFO	Lysosomal disease	Metachromatic leukodystrophy, late infantile form
Orphanet:158124	Orphanet:98543	\N	"" []	Orphanet:309256	"" []	1157380	\N	\N	EFO	3	EFO	Genetic dementia	Metachromatic leukodystrophy, late infantile form
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:309256	"" []	1157381	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Metachromatic leukodystrophy, late infantile form
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:309256	"" []	2040465	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Metachromatic leukodystrophy, late infantile form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309256	"" []	4397580	\N	\N	EFO	6	EFO	genetic disorder	Metachromatic leukodystrophy, late infantile form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309256	"" []	2040467	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Metachromatic leukodystrophy, late infantile form
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:309256	"" []	2040468	\N	\N	EFO	4	EFO	brain disease	Metachromatic leukodystrophy, late infantile form
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:309256	"" []	2040469	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy, late infantile form
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:309256	"" []	2040470	\N	\N	EFO	4	EFO	Retinal dystrophy	Metachromatic leukodystrophy, late infantile form
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:309256	"" []	3190776	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy, late infantile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309256	"" []	6151117	\N	\N	EFO	8	EFO	disease	Metachromatic leukodystrophy, late infantile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309256	"" []	3190778	\N	\N	EFO	5	EFO	genetic disorder	Metachromatic leukodystrophy, late infantile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309256	"" []	3190779	\N	\N	EFO	5	EFO	metabolic disease	Metachromatic leukodystrophy, late infantile form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309256	"" []	3190780	\N	\N	EFO	5	EFO	nervous system disease	Metachromatic leukodystrophy, late infantile form
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:309256	"" []	3190782	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Metachromatic leukodystrophy, late infantile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309256	"" []	6410118	\N	\N	EFO	9	EFO	disposition	Metachromatic leukodystrophy, late infantile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309256	"" []	4397582	\N	\N	EFO	6	EFO	disease	Metachromatic leukodystrophy, late infantile form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309256	"" []	4397583	\N	\N	EFO	6	EFO	disease	Metachromatic leukodystrophy, late infantile form
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:309256	"" []	4397584	\N	\N	EFO	6	EFO	Rare genetic eye disease	Metachromatic leukodystrophy, late infantile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309256	"" []	6807963	\N	\N	EFO	10	EFO	material property	Metachromatic leukodystrophy, late infantile form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309256	"" []	5415056	\N	\N	EFO	7	EFO	genetic disorder	Metachromatic leukodystrophy, late infantile form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309256	"" []	5415057	\N	\N	EFO	7	EFO	eye disease	Metachromatic leukodystrophy, late infantile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309256	"" []	7048691	\N	\N	EFO	11	EFO	experimental factor	Metachromatic leukodystrophy, late infantile form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309256	"" []	6151118	\N	\N	EFO	8	EFO	disease	Metachromatic leukodystrophy, late infantile form
Orphanet:309263	\N	\N	"" []	Orphanet:309263	"" []	76318	\N	\N	EFO	0	EFO	Metachromatic leukodystrophy, juvenile form	Metachromatic leukodystrophy, juvenile form
Orphanet:512	Orphanet:309263	\N	"" []	Orphanet:309263	"" []	219233	\N	\N	EFO	1	EFO	Metachromatic leukodystrophy	Metachromatic leukodystrophy, juvenile form
Orphanet:207018	Orphanet:512	\N	"" []	Orphanet:309263	"" []	574579	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Metachromatic leukodystrophy, juvenile form
Orphanet:68356	Orphanet:512	\N	"" []	Orphanet:309263	"" []	574580	\N	\N	EFO	2	EFO	Leukodystrophy	Metachromatic leukodystrophy, juvenile form
Orphanet:68385	Orphanet:512	\N	"" []	Orphanet:309263	"" []	574581	\N	\N	EFO	2	EFO	Neurometabolic disease	Metachromatic leukodystrophy, juvenile form
Orphanet:79225	Orphanet:512	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309263	"" []	574582	\N	\N	EFO	2	EFO	Sphingolipidosis	Metachromatic leukodystrophy, juvenile form
Orphanet:98543	Orphanet:512	\N	"" []	Orphanet:309263	"" []	574583	\N	\N	EFO	2	EFO	Metabolic disease with dementia	Metachromatic leukodystrophy, juvenile form
Orphanet:98666	Orphanet:512	\N	"" []	Orphanet:309263	"" []	574584	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Metachromatic leukodystrophy, juvenile form
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:309263	"" []	1157382	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Metachromatic leukodystrophy, juvenile form
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:309263	"" []	1157383	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy, juvenile form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309263	"" []	1157384	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy, juvenile form
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309263	"" []	1157385	\N	\N	EFO	3	EFO	Lysosomal disease	Metachromatic leukodystrophy, juvenile form
Orphanet:158124	Orphanet:98543	\N	"" []	Orphanet:309263	"" []	1157386	\N	\N	EFO	3	EFO	Genetic dementia	Metachromatic leukodystrophy, juvenile form
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:309263	"" []	1157387	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Metachromatic leukodystrophy, juvenile form
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:309263	"" []	2040471	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Metachromatic leukodystrophy, juvenile form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309263	"" []	4397585	\N	\N	EFO	6	EFO	genetic disorder	Metachromatic leukodystrophy, juvenile form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309263	"" []	2040473	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Metachromatic leukodystrophy, juvenile form
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:309263	"" []	2040474	\N	\N	EFO	4	EFO	brain disease	Metachromatic leukodystrophy, juvenile form
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:309263	"" []	2040475	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy, juvenile form
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:309263	"" []	2040476	\N	\N	EFO	4	EFO	Retinal dystrophy	Metachromatic leukodystrophy, juvenile form
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:309263	"" []	3190783	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy, juvenile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309263	"" []	6151120	\N	\N	EFO	8	EFO	disease	Metachromatic leukodystrophy, juvenile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309263	"" []	3190785	\N	\N	EFO	5	EFO	genetic disorder	Metachromatic leukodystrophy, juvenile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309263	"" []	3190786	\N	\N	EFO	5	EFO	metabolic disease	Metachromatic leukodystrophy, juvenile form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309263	"" []	3190787	\N	\N	EFO	5	EFO	nervous system disease	Metachromatic leukodystrophy, juvenile form
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:309263	"" []	3190789	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Metachromatic leukodystrophy, juvenile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309263	"" []	6410119	\N	\N	EFO	9	EFO	disposition	Metachromatic leukodystrophy, juvenile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309263	"" []	4397587	\N	\N	EFO	6	EFO	disease	Metachromatic leukodystrophy, juvenile form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309263	"" []	4397588	\N	\N	EFO	6	EFO	disease	Metachromatic leukodystrophy, juvenile form
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:309263	"" []	4397589	\N	\N	EFO	6	EFO	Rare genetic eye disease	Metachromatic leukodystrophy, juvenile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309263	"" []	6807964	\N	\N	EFO	10	EFO	material property	Metachromatic leukodystrophy, juvenile form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309263	"" []	5415059	\N	\N	EFO	7	EFO	genetic disorder	Metachromatic leukodystrophy, juvenile form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309263	"" []	5415060	\N	\N	EFO	7	EFO	eye disease	Metachromatic leukodystrophy, juvenile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309263	"" []	7048692	\N	\N	EFO	11	EFO	experimental factor	Metachromatic leukodystrophy, juvenile form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309263	"" []	6151121	\N	\N	EFO	8	EFO	disease	Metachromatic leukodystrophy, juvenile form
Orphanet:309271	\N	\N	"" []	Orphanet:309271	"" []	76319	\N	\N	EFO	0	EFO	Metachromatic leukodystrophy, adult form	Metachromatic leukodystrophy, adult form
Orphanet:512	Orphanet:309271	\N	"" []	Orphanet:309271	"" []	219234	\N	\N	EFO	1	EFO	Metachromatic leukodystrophy	Metachromatic leukodystrophy, adult form
Orphanet:207018	Orphanet:512	\N	"" []	Orphanet:309271	"" []	574585	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Metachromatic leukodystrophy, adult form
Orphanet:68356	Orphanet:512	\N	"" []	Orphanet:309271	"" []	574586	\N	\N	EFO	2	EFO	Leukodystrophy	Metachromatic leukodystrophy, adult form
Orphanet:68385	Orphanet:512	\N	"" []	Orphanet:309271	"" []	574587	\N	\N	EFO	2	EFO	Neurometabolic disease	Metachromatic leukodystrophy, adult form
Orphanet:79225	Orphanet:512	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:309271	"" []	574588	\N	\N	EFO	2	EFO	Sphingolipidosis	Metachromatic leukodystrophy, adult form
Orphanet:98543	Orphanet:512	\N	"" []	Orphanet:309271	"" []	574589	\N	\N	EFO	2	EFO	Metabolic disease with dementia	Metachromatic leukodystrophy, adult form
Orphanet:98666	Orphanet:512	\N	"" []	Orphanet:309271	"" []	574590	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Metachromatic leukodystrophy, adult form
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:309271	"" []	1157388	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Metachromatic leukodystrophy, adult form
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:309271	"" []	1157389	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy, adult form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309271	"" []	1157390	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy, adult form
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:309271	"" []	1157391	\N	\N	EFO	3	EFO	Lysosomal disease	Metachromatic leukodystrophy, adult form
Orphanet:158124	Orphanet:98543	\N	"" []	Orphanet:309271	"" []	1157392	\N	\N	EFO	3	EFO	Genetic dementia	Metachromatic leukodystrophy, adult form
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:309271	"" []	1157393	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Metachromatic leukodystrophy, adult form
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:309271	"" []	2040477	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Metachromatic leukodystrophy, adult form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309271	"" []	4397590	\N	\N	EFO	6	EFO	genetic disorder	Metachromatic leukodystrophy, adult form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309271	"" []	2040479	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Metachromatic leukodystrophy, adult form
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:309271	"" []	2040480	\N	\N	EFO	4	EFO	brain disease	Metachromatic leukodystrophy, adult form
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:309271	"" []	2040481	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy, adult form
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:309271	"" []	2040482	\N	\N	EFO	4	EFO	Retinal dystrophy	Metachromatic leukodystrophy, adult form
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:309271	"" []	3190790	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy, adult form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309271	"" []	6151123	\N	\N	EFO	8	EFO	disease	Metachromatic leukodystrophy, adult form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309271	"" []	3190792	\N	\N	EFO	5	EFO	genetic disorder	Metachromatic leukodystrophy, adult form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309271	"" []	3190793	\N	\N	EFO	5	EFO	metabolic disease	Metachromatic leukodystrophy, adult form
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309271	"" []	3190794	\N	\N	EFO	5	EFO	nervous system disease	Metachromatic leukodystrophy, adult form
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:309271	"" []	3190796	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Metachromatic leukodystrophy, adult form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309271	"" []	6410120	\N	\N	EFO	9	EFO	disposition	Metachromatic leukodystrophy, adult form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309271	"" []	4397592	\N	\N	EFO	6	EFO	disease	Metachromatic leukodystrophy, adult form
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309271	"" []	4397593	\N	\N	EFO	6	EFO	disease	Metachromatic leukodystrophy, adult form
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:309271	"" []	4397594	\N	\N	EFO	6	EFO	Rare genetic eye disease	Metachromatic leukodystrophy, adult form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309271	"" []	6807965	\N	\N	EFO	10	EFO	material property	Metachromatic leukodystrophy, adult form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309271	"" []	5415062	\N	\N	EFO	7	EFO	genetic disorder	Metachromatic leukodystrophy, adult form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309271	"" []	5415063	\N	\N	EFO	7	EFO	eye disease	Metachromatic leukodystrophy, adult form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309271	"" []	7048693	\N	\N	EFO	11	EFO	experimental factor	Metachromatic leukodystrophy, adult form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309271	"" []	6151124	\N	\N	EFO	8	EFO	disease	Metachromatic leukodystrophy, adult form
Orphanet:309279	\N	\N	"" []	Orphanet:309279	"" []	76320	\N	\N	EFO	0	EFO	Glycoproteinosis	Glycoproteinosis
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:309279	"" []	219235	\N	\N	EFO	1	EFO	Lysosomal disease	Glycoproteinosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309279	"" []	574591	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Glycoproteinosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309279	"" []	1157394	\N	\N	EFO	3	EFO	genetic disorder	Glycoproteinosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309279	"" []	1157395	\N	\N	EFO	3	EFO	metabolic disease	Glycoproteinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309279	"" []	2040483	\N	\N	EFO	4	EFO	disease	Glycoproteinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309279	"" []	2040484	\N	\N	EFO	4	EFO	disease	Glycoproteinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309279	"" []	3190797	\N	\N	EFO	5	EFO	disposition	Glycoproteinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309279	"" []	4397595	\N	\N	EFO	6	EFO	material property	Glycoproteinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309279	"" []	5415064	\N	\N	EFO	7	EFO	experimental factor	Glycoproteinosis
Orphanet:309282	\N	\N	"" []	Orphanet:309282	"" []	76321	\N	\N	EFO	0	EFO	Alpha-mannosidosis, infantile form	Alpha-mannosidosis, infantile form
Orphanet:61	Orphanet:309282	\N	"" []	Orphanet:309282	"" []	219236	\N	\N	EFO	1	EFO	Alpha-mannosidosis	Alpha-mannosidosis, infantile form
Orphanet:217581	Orphanet:61	\N	"" []	Orphanet:309282	"" []	574592	\N	\N	EFO	2	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Alpha-mannosidosis, infantile form
Orphanet:68385	Orphanet:61	\N	"" []	Orphanet:309282	"" []	574593	\N	\N	EFO	2	EFO	Neurometabolic disease	Alpha-mannosidosis, infantile form
Orphanet:79215	Orphanet:61	\N	"" []	Orphanet:309282	"" []	574594	\N	\N	EFO	2	EFO	Oligosaccharidosis	Alpha-mannosidosis, infantile form
Orphanet:93448	Orphanet:61	\N	"" []	Orphanet:309282	"" []	574595	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Alpha-mannosidosis, infantile form
Orphanet:98644	Orphanet:61	\N	"" []	Orphanet:309282	"" []	574596	\N	\N	EFO	2	EFO	Cataract associated with a metabolic disease	Alpha-mannosidosis, infantile form
Orphanet:98711	Orphanet:61	\N	"" []	Orphanet:309282	"" []	574597	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Alpha-mannosidosis, infantile form
Orphanet:98712	Orphanet:61	\N	"" []	Orphanet:309282	"" []	574598	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Alpha-mannosidosis, infantile form
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:309282	"" []	1157396	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Alpha-mannosidosis, infantile form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309282	"" []	1157397	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alpha-mannosidosis, infantile form
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:309282	"" []	1157398	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Alpha-mannosidosis, infantile form
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:309282	"" []	1157399	\N	\N	EFO	3	EFO	Glycoproteinosis	Alpha-mannosidosis, infantile form
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:309282	"" []	1157400	\N	\N	EFO	3	EFO	Rare genetic bone disease	Alpha-mannosidosis, infantile form
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:309282	"" []	1157401	\N	\N	EFO	3	EFO	Systemic disease with cataract	Alpha-mannosidosis, infantile form
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:309282	"" []	1157402	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Alpha-mannosidosis, infantile form
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:309282	"" []	1157403	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Alpha-mannosidosis, infantile form
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:309282	"" []	2040485	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Alpha-mannosidosis, infantile form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309282	"" []	2040486	\N	\N	EFO	4	EFO	genetic disorder	Alpha-mannosidosis, infantile form
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:309282	"" []	2040487	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alpha-mannosidosis, infantile form
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:309282	"" []	2040488	\N	\N	EFO	4	EFO	Lysosomal disease	Alpha-mannosidosis, infantile form
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309282	"" []	2040489	\N	\N	EFO	4	EFO	genetic disorder	Alpha-mannosidosis, infantile form
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:309282	"" []	2040490	\N	\N	EFO	4	EFO	bone disease	Alpha-mannosidosis, infantile form
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:309282	"" []	2040491	\N	\N	EFO	4	EFO	Syndromic cataract	Alpha-mannosidosis, infantile form
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309282	"" []	2040492	\N	\N	EFO	4	EFO	Rare genetic eye disease	Alpha-mannosidosis, infantile form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309282	"" []	3190798	\N	\N	EFO	5	EFO	genetic disorder	Alpha-mannosidosis, infantile form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:309282	"" []	3190799	\N	\N	EFO	5	EFO	heart disease	Alpha-mannosidosis, infantile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309282	"" []	6410121	\N	\N	EFO	9	EFO	disease	Alpha-mannosidosis, infantile form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309282	"" []	3190801	\N	\N	EFO	5	EFO	genetic disorder	Alpha-mannosidosis, infantile form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309282	"" []	3190802	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Alpha-mannosidosis, infantile form
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:309282	"" []	3190803	\N	\N	EFO	5	EFO	skeletal system disease	Alpha-mannosidosis, infantile form
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:309282	"" []	3190804	\N	\N	EFO	5	EFO	Rare cataract	Alpha-mannosidosis, infantile form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309282	"" []	6151126	\N	\N	EFO	8	EFO	genetic disorder	Alpha-mannosidosis, infantile form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309282	"" []	6151127	\N	\N	EFO	8	EFO	eye disease	Alpha-mannosidosis, infantile form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:309282	"" []	4397597	\N	\N	EFO	6	EFO	cardiovascular disease	Alpha-mannosidosis, infantile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309282	"" []	6778733	\N	\N	EFO	10	EFO	disposition	Alpha-mannosidosis, infantile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309282	"" []	4397599	\N	\N	EFO	6	EFO	genetic disorder	Alpha-mannosidosis, infantile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309282	"" []	4397600	\N	\N	EFO	6	EFO	metabolic disease	Alpha-mannosidosis, infantile form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309282	"" []	4397601	\N	\N	EFO	6	EFO	disease	Alpha-mannosidosis, infantile form
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:309282	"" []	4397602	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Alpha-mannosidosis, infantile form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309282	"" []	6410122	\N	\N	EFO	9	EFO	disease	Alpha-mannosidosis, infantile form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309282	"" []	5415065	\N	\N	EFO	7	EFO	disease	Alpha-mannosidosis, infantile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309282	"" []	7029929	\N	\N	EFO	11	EFO	material property	Alpha-mannosidosis, infantile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309282	"" []	5415068	\N	\N	EFO	7	EFO	disease	Alpha-mannosidosis, infantile form
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:309282	"" []	5415069	\N	\N	EFO	7	EFO	Rare genetic eye disease	Alpha-mannosidosis, infantile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309282	"" []	7181793	\N	\N	EFO	12	EFO	experimental factor	Alpha-mannosidosis, infantile form
Orphanet:309288	\N	\N	"" []	Orphanet:309288	"" []	76322	\N	\N	EFO	0	EFO	Alpha-mannosidosis, adult form	Alpha-mannosidosis, adult form
Orphanet:61	Orphanet:309288	\N	"" []	Orphanet:309288	"" []	219237	\N	\N	EFO	1	EFO	Alpha-mannosidosis	Alpha-mannosidosis, adult form
Orphanet:217581	Orphanet:61	\N	"" []	Orphanet:309288	"" []	574599	\N	\N	EFO	2	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Alpha-mannosidosis, adult form
Orphanet:68385	Orphanet:61	\N	"" []	Orphanet:309288	"" []	574600	\N	\N	EFO	2	EFO	Neurometabolic disease	Alpha-mannosidosis, adult form
Orphanet:79215	Orphanet:61	\N	"" []	Orphanet:309288	"" []	574601	\N	\N	EFO	2	EFO	Oligosaccharidosis	Alpha-mannosidosis, adult form
Orphanet:93448	Orphanet:61	\N	"" []	Orphanet:309288	"" []	574602	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Alpha-mannosidosis, adult form
Orphanet:98644	Orphanet:61	\N	"" []	Orphanet:309288	"" []	574603	\N	\N	EFO	2	EFO	Cataract associated with a metabolic disease	Alpha-mannosidosis, adult form
Orphanet:98711	Orphanet:61	\N	"" []	Orphanet:309288	"" []	574604	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Alpha-mannosidosis, adult form
Orphanet:98712	Orphanet:61	\N	"" []	Orphanet:309288	"" []	574605	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Alpha-mannosidosis, adult form
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:309288	"" []	1157404	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Alpha-mannosidosis, adult form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309288	"" []	1157405	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alpha-mannosidosis, adult form
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:309288	"" []	1157406	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Alpha-mannosidosis, adult form
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:309288	"" []	1157407	\N	\N	EFO	3	EFO	Glycoproteinosis	Alpha-mannosidosis, adult form
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:309288	"" []	1157408	\N	\N	EFO	3	EFO	Rare genetic bone disease	Alpha-mannosidosis, adult form
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:309288	"" []	1157409	\N	\N	EFO	3	EFO	Systemic disease with cataract	Alpha-mannosidosis, adult form
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:309288	"" []	1157410	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Alpha-mannosidosis, adult form
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:309288	"" []	1157411	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Alpha-mannosidosis, adult form
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:309288	"" []	2040493	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Alpha-mannosidosis, adult form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309288	"" []	2040494	\N	\N	EFO	4	EFO	genetic disorder	Alpha-mannosidosis, adult form
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:309288	"" []	2040495	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alpha-mannosidosis, adult form
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:309288	"" []	2040496	\N	\N	EFO	4	EFO	Lysosomal disease	Alpha-mannosidosis, adult form
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309288	"" []	2040497	\N	\N	EFO	4	EFO	genetic disorder	Alpha-mannosidosis, adult form
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:309288	"" []	2040498	\N	\N	EFO	4	EFO	bone disease	Alpha-mannosidosis, adult form
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:309288	"" []	2040499	\N	\N	EFO	4	EFO	Syndromic cataract	Alpha-mannosidosis, adult form
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309288	"" []	2040500	\N	\N	EFO	4	EFO	Rare genetic eye disease	Alpha-mannosidosis, adult form
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309288	"" []	3190807	\N	\N	EFO	5	EFO	genetic disorder	Alpha-mannosidosis, adult form
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:309288	"" []	3190808	\N	\N	EFO	5	EFO	heart disease	Alpha-mannosidosis, adult form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309288	"" []	6410123	\N	\N	EFO	9	EFO	disease	Alpha-mannosidosis, adult form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309288	"" []	3190810	\N	\N	EFO	5	EFO	genetic disorder	Alpha-mannosidosis, adult form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309288	"" []	3190811	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Alpha-mannosidosis, adult form
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:309288	"" []	3190812	\N	\N	EFO	5	EFO	skeletal system disease	Alpha-mannosidosis, adult form
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:309288	"" []	3190813	\N	\N	EFO	5	EFO	Rare cataract	Alpha-mannosidosis, adult form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309288	"" []	6151129	\N	\N	EFO	8	EFO	genetic disorder	Alpha-mannosidosis, adult form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309288	"" []	6151130	\N	\N	EFO	8	EFO	eye disease	Alpha-mannosidosis, adult form
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:309288	"" []	4397605	\N	\N	EFO	6	EFO	cardiovascular disease	Alpha-mannosidosis, adult form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309288	"" []	6778734	\N	\N	EFO	10	EFO	disposition	Alpha-mannosidosis, adult form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309288	"" []	4397607	\N	\N	EFO	6	EFO	genetic disorder	Alpha-mannosidosis, adult form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309288	"" []	4397608	\N	\N	EFO	6	EFO	metabolic disease	Alpha-mannosidosis, adult form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309288	"" []	4397609	\N	\N	EFO	6	EFO	disease	Alpha-mannosidosis, adult form
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:309288	"" []	4397610	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Alpha-mannosidosis, adult form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309288	"" []	6410124	\N	\N	EFO	9	EFO	disease	Alpha-mannosidosis, adult form
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309288	"" []	5415070	\N	\N	EFO	7	EFO	disease	Alpha-mannosidosis, adult form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309288	"" []	7029930	\N	\N	EFO	11	EFO	material property	Alpha-mannosidosis, adult form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309288	"" []	5415073	\N	\N	EFO	7	EFO	disease	Alpha-mannosidosis, adult form
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:309288	"" []	5415074	\N	\N	EFO	7	EFO	Rare genetic eye disease	Alpha-mannosidosis, adult form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309288	"" []	7181794	\N	\N	EFO	12	EFO	experimental factor	Alpha-mannosidosis, adult form
Orphanet:309294	\N	\N	"" []	Orphanet:309294	"" []	76323	\N	\N	EFO	0	EFO	Sialidosis	Sialidosis
Orphanet:79215	Orphanet:309294	\N	"" []	Orphanet:309294	"" []	219238	\N	\N	EFO	1	EFO	Oligosaccharidosis	Sialidosis
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:309294	"" []	574606	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Sialidosis
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:309294	"" []	574607	\N	\N	EFO	2	EFO	Glycoproteinosis	Sialidosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:309294	"" []	1157412	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Sialidosis
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:309294	"" []	1157413	\N	\N	EFO	3	EFO	Lysosomal disease	Sialidosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309294	"" []	2040501	\N	\N	EFO	4	EFO	genetic disorder	Sialidosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309294	"" []	2040502	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Sialidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309294	"" []	4397613	\N	\N	EFO	6	EFO	disease	Sialidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309294	"" []	3190817	\N	\N	EFO	5	EFO	genetic disorder	Sialidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309294	"" []	3190818	\N	\N	EFO	5	EFO	metabolic disease	Sialidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309294	"" []	5182587	\N	\N	EFO	7	EFO	disposition	Sialidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309294	"" []	4397614	\N	\N	EFO	6	EFO	disease	Sialidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309294	"" []	5997960	\N	\N	EFO	8	EFO	material property	Sialidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309294	"" []	6551282	\N	\N	EFO	9	EFO	experimental factor	Sialidosis
Orphanet:309297	\N	\N	"" []	Orphanet:309297	"" []	76324	\N	\N	EFO	0	EFO	Mucopolysaccharidosis type 4A	Mucopolysaccharidosis type 4A
Orphanet:582	Orphanet:309297	\N	"" []	Orphanet:309297	"" []	219239	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 4	Mucopolysaccharidosis type 4A
Orphanet:79213	Orphanet:582	\N	"" []	Orphanet:309297	"" []	574608	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis type 4A
Orphanet:93448	Orphanet:582	\N	"" []	Orphanet:309297	"" []	574609	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Mucopolysaccharidosis type 4A
Orphanet:98711	Orphanet:582	\N	"" []	Orphanet:309297	"" []	574610	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Mucopolysaccharidosis type 4A
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:309297	"" []	1157414	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis type 4A
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:309297	"" []	1157415	\N	\N	EFO	3	EFO	Lysosomal disease	Mucopolysaccharidosis type 4A
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:309297	"" []	1157416	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis type 4A
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:309297	"" []	1157417	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mucopolysaccharidosis type 4A
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:309297	"" []	1157418	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Mucopolysaccharidosis type 4A
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:309297	"" []	2040503	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis type 4A
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309297	"" []	2040504	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mucopolysaccharidosis type 4A
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:309297	"" []	2040505	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 4A
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309297	"" []	2040506	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 4A
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:309297	"" []	2040507	\N	\N	EFO	4	EFO	bone disease	Mucopolysaccharidosis type 4A
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309297	"" []	2040508	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 4A
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309297	"" []	3190819	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 4A
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309297	"" []	3190820	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 4A
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309297	"" []	3190821	\N	\N	EFO	5	EFO	metabolic disease	Mucopolysaccharidosis type 4A
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309297	"" []	3190822	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 4A
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309297	"" []	3190823	\N	\N	EFO	5	EFO	eye disease	Mucopolysaccharidosis type 4A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309297	"" []	4397615	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 4A
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:309297	"" []	3190825	\N	\N	EFO	5	EFO	skeletal system disease	Mucopolysaccharidosis type 4A
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309297	"" []	4397616	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 4A
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309297	"" []	4397617	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 4A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309297	"" []	5182588	\N	\N	EFO	7	EFO	disposition	Mucopolysaccharidosis type 4A
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309297	"" []	4397619	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 4A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309297	"" []	5997961	\N	\N	EFO	8	EFO	material property	Mucopolysaccharidosis type 4A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309297	"" []	6551283	\N	\N	EFO	9	EFO	experimental factor	Mucopolysaccharidosis type 4A
Orphanet:309310	\N	\N	"" []	Orphanet:309310	"" []	76325	\N	\N	EFO	0	EFO	Mucopolysaccharidosis type 4B	Mucopolysaccharidosis type 4B
Orphanet:582	Orphanet:309310	\N	"" []	Orphanet:309310	"" []	219240	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 4	Mucopolysaccharidosis type 4B
Orphanet:79213	Orphanet:582	\N	"" []	Orphanet:309310	"" []	574611	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis type 4B
Orphanet:93448	Orphanet:582	\N	"" []	Orphanet:309310	"" []	574612	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Mucopolysaccharidosis type 4B
Orphanet:98711	Orphanet:582	\N	"" []	Orphanet:309310	"" []	574613	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Mucopolysaccharidosis type 4B
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:309310	"" []	1157419	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis type 4B
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:309310	"" []	1157420	\N	\N	EFO	3	EFO	Lysosomal disease	Mucopolysaccharidosis type 4B
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:309310	"" []	1157421	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis type 4B
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:309310	"" []	1157422	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mucopolysaccharidosis type 4B
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:309310	"" []	1157423	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Mucopolysaccharidosis type 4B
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:309310	"" []	2040509	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis type 4B
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309310	"" []	2040510	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mucopolysaccharidosis type 4B
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:309310	"" []	2040511	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 4B
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309310	"" []	2040512	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 4B
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:309310	"" []	2040513	\N	\N	EFO	4	EFO	bone disease	Mucopolysaccharidosis type 4B
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309310	"" []	2040514	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 4B
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309310	"" []	3190826	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 4B
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309310	"" []	3190827	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 4B
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309310	"" []	3190828	\N	\N	EFO	5	EFO	metabolic disease	Mucopolysaccharidosis type 4B
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309310	"" []	3190829	\N	\N	EFO	5	EFO	genetic disorder	Mucopolysaccharidosis type 4B
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309310	"" []	3190830	\N	\N	EFO	5	EFO	eye disease	Mucopolysaccharidosis type 4B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309310	"" []	4397620	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 4B
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:309310	"" []	3190832	\N	\N	EFO	5	EFO	skeletal system disease	Mucopolysaccharidosis type 4B
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309310	"" []	4397621	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 4B
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309310	"" []	4397622	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 4B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309310	"" []	5182589	\N	\N	EFO	7	EFO	disposition	Mucopolysaccharidosis type 4B
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309310	"" []	4397624	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 4B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309310	"" []	5997962	\N	\N	EFO	8	EFO	material property	Mucopolysaccharidosis type 4B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309310	"" []	6551284	\N	\N	EFO	9	EFO	experimental factor	Mucopolysaccharidosis type 4B
Orphanet:309319	\N	\N	"" []	Orphanet:309319	"" []	76326	\N	\N	EFO	0	EFO	Disorder of sialic acid metabolism	Disorder of sialic acid metabolism
Orphanet:68366	Orphanet:309319	\N	"" []	Orphanet:309319	"" []	219241	\N	\N	EFO	1	EFO	Lysosomal disease	Disorder of sialic acid metabolism
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309319	"" []	574614	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of sialic acid metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309319	"" []	1157424	\N	\N	EFO	3	EFO	genetic disorder	Disorder of sialic acid metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309319	"" []	1157425	\N	\N	EFO	3	EFO	metabolic disease	Disorder of sialic acid metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309319	"" []	2040515	\N	\N	EFO	4	EFO	disease	Disorder of sialic acid metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309319	"" []	2040516	\N	\N	EFO	4	EFO	disease	Disorder of sialic acid metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309319	"" []	3190833	\N	\N	EFO	5	EFO	disposition	Disorder of sialic acid metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309319	"" []	4397625	\N	\N	EFO	6	EFO	material property	Disorder of sialic acid metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309319	"" []	5415078	\N	\N	EFO	7	EFO	experimental factor	Disorder of sialic acid metabolism
Orphanet:309324	\N	\N	"" []	Orphanet:309324	"" []	76327	\N	\N	EFO	0	EFO	Free sialic acid storage disease, infantile form	Free sialic acid storage disease, infantile form
Orphanet:834	Orphanet:309324	\N	"" []	Orphanet:309324	"" []	219242	\N	\N	EFO	1	EFO	Free sialic acid storage disease	Free sialic acid storage disease, infantile form
Orphanet:68385	Orphanet:834	\N	"" []	Orphanet:309324	"" []	574615	\N	\N	EFO	2	EFO	Neurometabolic disease	Free sialic acid storage disease, infantile form
Orphanet:79207	Orphanet:834	\N	"" []	Orphanet:309324	"" []	574616	\N	\N	EFO	2	EFO	Disorder of lysosomal amino acid transport	Free sialic acid storage disease, infantile form
Orphanet:93448	Orphanet:834	\N	"" []	Orphanet:309324	"" []	574617	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Free sialic acid storage disease, infantile form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309324	"" []	1157426	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Free sialic acid storage disease, infantile form
Orphanet:68366	Orphanet:79207	\N	"" []	Orphanet:309324	"" []	1157427	\N	\N	EFO	3	EFO	Lysosomal disease	Free sialic acid storage disease, infantile form
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:309324	"" []	1157428	\N	\N	EFO	3	EFO	Rare genetic bone disease	Free sialic acid storage disease, infantile form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309324	"" []	2040517	\N	\N	EFO	4	EFO	genetic disorder	Free sialic acid storage disease, infantile form
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309324	"" []	2040518	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Free sialic acid storage disease, infantile form
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309324	"" []	2040519	\N	\N	EFO	4	EFO	genetic disorder	Free sialic acid storage disease, infantile form
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:309324	"" []	2040520	\N	\N	EFO	4	EFO	bone disease	Free sialic acid storage disease, infantile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309324	"" []	4397627	\N	\N	EFO	6	EFO	disease	Free sialic acid storage disease, infantile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309324	"" []	3190835	\N	\N	EFO	5	EFO	genetic disorder	Free sialic acid storage disease, infantile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309324	"" []	3190836	\N	\N	EFO	5	EFO	metabolic disease	Free sialic acid storage disease, infantile form
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:309324	"" []	3190837	\N	\N	EFO	5	EFO	skeletal system disease	Free sialic acid storage disease, infantile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309324	"" []	5182590	\N	\N	EFO	7	EFO	disposition	Free sialic acid storage disease, infantile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309324	"" []	4397628	\N	\N	EFO	6	EFO	disease	Free sialic acid storage disease, infantile form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309324	"" []	4397629	\N	\N	EFO	6	EFO	disease	Free sialic acid storage disease, infantile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309324	"" []	5997963	\N	\N	EFO	8	EFO	material property	Free sialic acid storage disease, infantile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309324	"" []	6551285	\N	\N	EFO	9	EFO	experimental factor	Free sialic acid storage disease, infantile form
Orphanet:309331	\N	\N	"" []	Orphanet:309331	"" []	76328	\N	\N	EFO	0	EFO	Intermediate severe Salla disease	Intermediate severe Salla disease
Orphanet:834	Orphanet:309331	\N	"" []	Orphanet:309331	"" []	219243	\N	\N	EFO	1	EFO	Free sialic acid storage disease	Intermediate severe Salla disease
Orphanet:68385	Orphanet:834	\N	"" []	Orphanet:309331	"" []	574618	\N	\N	EFO	2	EFO	Neurometabolic disease	Intermediate severe Salla disease
Orphanet:79207	Orphanet:834	\N	"" []	Orphanet:309331	"" []	574619	\N	\N	EFO	2	EFO	Disorder of lysosomal amino acid transport	Intermediate severe Salla disease
Orphanet:93448	Orphanet:834	\N	"" []	Orphanet:309331	"" []	574620	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Intermediate severe Salla disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309331	"" []	1157429	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intermediate severe Salla disease
Orphanet:68366	Orphanet:79207	\N	"" []	Orphanet:309331	"" []	1157430	\N	\N	EFO	3	EFO	Lysosomal disease	Intermediate severe Salla disease
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:309331	"" []	1157431	\N	\N	EFO	3	EFO	Rare genetic bone disease	Intermediate severe Salla disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309331	"" []	2040521	\N	\N	EFO	4	EFO	genetic disorder	Intermediate severe Salla disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309331	"" []	2040522	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Intermediate severe Salla disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309331	"" []	2040523	\N	\N	EFO	4	EFO	genetic disorder	Intermediate severe Salla disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:309331	"" []	2040524	\N	\N	EFO	4	EFO	bone disease	Intermediate severe Salla disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309331	"" []	4397631	\N	\N	EFO	6	EFO	disease	Intermediate severe Salla disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309331	"" []	3190839	\N	\N	EFO	5	EFO	genetic disorder	Intermediate severe Salla disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309331	"" []	3190840	\N	\N	EFO	5	EFO	metabolic disease	Intermediate severe Salla disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:309331	"" []	3190841	\N	\N	EFO	5	EFO	skeletal system disease	Intermediate severe Salla disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309331	"" []	5182591	\N	\N	EFO	7	EFO	disposition	Intermediate severe Salla disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309331	"" []	4397632	\N	\N	EFO	6	EFO	disease	Intermediate severe Salla disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309331	"" []	4397633	\N	\N	EFO	6	EFO	disease	Intermediate severe Salla disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309331	"" []	5997964	\N	\N	EFO	8	EFO	material property	Intermediate severe Salla disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309331	"" []	6551286	\N	\N	EFO	9	EFO	experimental factor	Intermediate severe Salla disease
Orphanet:309334	\N	\N	"" []	Orphanet:309334	"" []	76329	\N	\N	EFO	0	EFO	Salla disease	Salla disease
Orphanet:834	Orphanet:309334	\N	"" []	Orphanet:309334	"" []	219244	\N	\N	EFO	1	EFO	Free sialic acid storage disease	Salla disease
Orphanet:68385	Orphanet:834	\N	"" []	Orphanet:309334	"" []	574621	\N	\N	EFO	2	EFO	Neurometabolic disease	Salla disease
Orphanet:79207	Orphanet:834	\N	"" []	Orphanet:309334	"" []	574622	\N	\N	EFO	2	EFO	Disorder of lysosomal amino acid transport	Salla disease
Orphanet:93448	Orphanet:834	\N	"" []	Orphanet:309334	"" []	574623	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Salla disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309334	"" []	1157432	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Salla disease
Orphanet:68366	Orphanet:79207	\N	"" []	Orphanet:309334	"" []	1157433	\N	\N	EFO	3	EFO	Lysosomal disease	Salla disease
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:309334	"" []	1157434	\N	\N	EFO	3	EFO	Rare genetic bone disease	Salla disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309334	"" []	2040525	\N	\N	EFO	4	EFO	genetic disorder	Salla disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309334	"" []	2040526	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Salla disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309334	"" []	2040527	\N	\N	EFO	4	EFO	genetic disorder	Salla disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:309334	"" []	2040528	\N	\N	EFO	4	EFO	bone disease	Salla disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309334	"" []	4397635	\N	\N	EFO	6	EFO	disease	Salla disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309334	"" []	3190843	\N	\N	EFO	5	EFO	genetic disorder	Salla disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309334	"" []	3190844	\N	\N	EFO	5	EFO	metabolic disease	Salla disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:309334	"" []	3190845	\N	\N	EFO	5	EFO	skeletal system disease	Salla disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309334	"" []	5182592	\N	\N	EFO	7	EFO	disposition	Salla disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309334	"" []	4397636	\N	\N	EFO	6	EFO	disease	Salla disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309334	"" []	4397637	\N	\N	EFO	6	EFO	disease	Salla disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309334	"" []	5997965	\N	\N	EFO	8	EFO	material property	Salla disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309334	"" []	6551287	\N	\N	EFO	9	EFO	experimental factor	Salla disease
Orphanet:309337	\N	\N	"" []	Orphanet:309337	"" []	76330	\N	\N	EFO	0	EFO	Lysosomal glycogen storage disease	Lysosomal glycogen storage disease
Orphanet:68366	Orphanet:309337	\N	"" []	Orphanet:309337	"" []	219245	\N	\N	EFO	1	EFO	Lysosomal disease	Lysosomal glycogen storage disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:309337	"" []	574624	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Lysosomal glycogen storage disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309337	"" []	1157435	\N	\N	EFO	3	EFO	genetic disorder	Lysosomal glycogen storage disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309337	"" []	1157436	\N	\N	EFO	3	EFO	metabolic disease	Lysosomal glycogen storage disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309337	"" []	2040529	\N	\N	EFO	4	EFO	disease	Lysosomal glycogen storage disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309337	"" []	2040530	\N	\N	EFO	4	EFO	disease	Lysosomal glycogen storage disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309337	"" []	3190846	\N	\N	EFO	5	EFO	disposition	Lysosomal glycogen storage disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309337	"" []	4397638	\N	\N	EFO	6	EFO	material property	Lysosomal glycogen storage disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309337	"" []	5415082	\N	\N	EFO	7	EFO	experimental factor	Lysosomal glycogen storage disease
Orphanet:309340	\N	\N	"" []	Orphanet:309340	"" []	76331	\N	\N	EFO	0	EFO	Disorder of lysosomal-related organelles	Disorder of lysosomal-related organelles
Orphanet:68367	Orphanet:309340	\N	"" []	Orphanet:309340	"" []	219246	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Disorder of lysosomal-related organelles
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309340	"" []	574625	\N	\N	EFO	2	EFO	genetic disorder	Disorder of lysosomal-related organelles
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309340	"" []	574626	\N	\N	EFO	2	EFO	metabolic disease	Disorder of lysosomal-related organelles
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309340	"" []	1157437	\N	\N	EFO	3	EFO	disease	Disorder of lysosomal-related organelles
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309340	"" []	1157438	\N	\N	EFO	3	EFO	disease	Disorder of lysosomal-related organelles
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309340	"" []	2040531	\N	\N	EFO	4	EFO	disposition	Disorder of lysosomal-related organelles
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309340	"" []	3190847	\N	\N	EFO	5	EFO	material property	Disorder of lysosomal-related organelles
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309340	"" []	4397639	\N	\N	EFO	6	EFO	experimental factor	Disorder of lysosomal-related organelles
Orphanet:309347	\N	\N	"" []	Orphanet:309347	"" []	76332	\N	\N	EFO	0	EFO	Disorder of protein N-glycosylation	Disorder of protein N-glycosylation
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:309347	"" []	219247	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation	Disorder of protein N-glycosylation
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:309347	"" []	574627	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of protein N-glycosylation
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309347	"" []	1157439	\N	\N	EFO	3	EFO	genetic disorder	Disorder of protein N-glycosylation
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309347	"" []	1157440	\N	\N	EFO	3	EFO	metabolic disease	Disorder of protein N-glycosylation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309347	"" []	2040532	\N	\N	EFO	4	EFO	disease	Disorder of protein N-glycosylation
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309347	"" []	2040533	\N	\N	EFO	4	EFO	disease	Disorder of protein N-glycosylation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309347	"" []	3190848	\N	\N	EFO	5	EFO	disposition	Disorder of protein N-glycosylation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309347	"" []	4397640	\N	\N	EFO	6	EFO	material property	Disorder of protein N-glycosylation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309347	"" []	5415083	\N	\N	EFO	7	EFO	experimental factor	Disorder of protein N-glycosylation
Orphanet:309447	\N	\N	"" []	Orphanet:309447	"" []	76333	\N	\N	EFO	0	EFO	Disorder of protein O-glycosylation	Disorder of protein O-glycosylation
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:309447	"" []	219248	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation	Disorder of protein O-glycosylation
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:309447	"" []	574628	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of protein O-glycosylation
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309447	"" []	1157441	\N	\N	EFO	3	EFO	genetic disorder	Disorder of protein O-glycosylation
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309447	"" []	1157442	\N	\N	EFO	3	EFO	metabolic disease	Disorder of protein O-glycosylation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309447	"" []	2040534	\N	\N	EFO	4	EFO	disease	Disorder of protein O-glycosylation
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309447	"" []	2040535	\N	\N	EFO	4	EFO	disease	Disorder of protein O-glycosylation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309447	"" []	3190849	\N	\N	EFO	5	EFO	disposition	Disorder of protein O-glycosylation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309447	"" []	4397641	\N	\N	EFO	6	EFO	material property	Disorder of protein O-glycosylation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309447	"" []	5415084	\N	\N	EFO	7	EFO	experimental factor	Disorder of protein O-glycosylation
Orphanet:309450	\N	\N	"" []	Orphanet:309450	"" []	76334	\N	\N	EFO	0	EFO	Disorder of O-xylosylglycan synthesis	Disorder of O-xylosylglycan synthesis
Orphanet:309447	Orphanet:309450	\N	"" []	Orphanet:309450	"" []	219249	\N	\N	EFO	1	EFO	Disorder of protein O-glycosylation	Disorder of O-xylosylglycan synthesis
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:309450	"" []	574629	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Disorder of O-xylosylglycan synthesis
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:309450	"" []	1157443	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of O-xylosylglycan synthesis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309450	"" []	2040536	\N	\N	EFO	4	EFO	genetic disorder	Disorder of O-xylosylglycan synthesis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309450	"" []	2040537	\N	\N	EFO	4	EFO	metabolic disease	Disorder of O-xylosylglycan synthesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309450	"" []	3190850	\N	\N	EFO	5	EFO	disease	Disorder of O-xylosylglycan synthesis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309450	"" []	3190851	\N	\N	EFO	5	EFO	disease	Disorder of O-xylosylglycan synthesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309450	"" []	4397642	\N	\N	EFO	6	EFO	disposition	Disorder of O-xylosylglycan synthesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309450	"" []	5415085	\N	\N	EFO	7	EFO	material property	Disorder of O-xylosylglycan synthesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309450	"" []	6151137	\N	\N	EFO	8	EFO	experimental factor	Disorder of O-xylosylglycan synthesis
Orphanet:309458	\N	\N	"" []	Orphanet:309458	"" []	76335	\N	\N	EFO	0	EFO	Disorder of O-N-acetylgalactosaminylglycan synthesis	Disorder of O-N-acetylgalactosaminylglycan synthesis
Orphanet:309447	Orphanet:309458	\N	"" []	Orphanet:309458	"" []	219250	\N	\N	EFO	1	EFO	Disorder of protein O-glycosylation	Disorder of O-N-acetylgalactosaminylglycan synthesis
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:309458	"" []	574630	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Disorder of O-N-acetylgalactosaminylglycan synthesis
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:309458	"" []	1157444	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of O-N-acetylgalactosaminylglycan synthesis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309458	"" []	2040538	\N	\N	EFO	4	EFO	genetic disorder	Disorder of O-N-acetylgalactosaminylglycan synthesis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309458	"" []	2040539	\N	\N	EFO	4	EFO	metabolic disease	Disorder of O-N-acetylgalactosaminylglycan synthesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309458	"" []	3190852	\N	\N	EFO	5	EFO	disease	Disorder of O-N-acetylgalactosaminylglycan synthesis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309458	"" []	3190853	\N	\N	EFO	5	EFO	disease	Disorder of O-N-acetylgalactosaminylglycan synthesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309458	"" []	4397643	\N	\N	EFO	6	EFO	disposition	Disorder of O-N-acetylgalactosaminylglycan synthesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309458	"" []	5415086	\N	\N	EFO	7	EFO	material property	Disorder of O-N-acetylgalactosaminylglycan synthesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309458	"" []	6151138	\N	\N	EFO	8	EFO	experimental factor	Disorder of O-N-acetylgalactosaminylglycan synthesis
Orphanet:309463	\N	\N	"" []	Orphanet:309463	"" []	76336	\N	\N	EFO	0	EFO	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
Orphanet:309447	Orphanet:309463	\N	"" []	Orphanet:309463	"" []	219251	\N	\N	EFO	1	EFO	Disorder of protein O-glycosylation	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:309463	"" []	574631	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:309463	"" []	1157445	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309463	"" []	2040540	\N	\N	EFO	4	EFO	genetic disorder	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309463	"" []	2040541	\N	\N	EFO	4	EFO	metabolic disease	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309463	"" []	3190854	\N	\N	EFO	5	EFO	disease	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309463	"" []	3190855	\N	\N	EFO	5	EFO	disease	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309463	"" []	4397644	\N	\N	EFO	6	EFO	disposition	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309463	"" []	5415087	\N	\N	EFO	7	EFO	material property	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309463	"" []	6151139	\N	\N	EFO	8	EFO	experimental factor	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
Orphanet:309469	\N	\N	"" []	Orphanet:309469	"" []	76337	\N	\N	EFO	0	EFO	Disorder of O-mannosylglycan synthesis	Disorder of O-mannosylglycan synthesis
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:309469	"" []	219252	\N	\N	EFO	1	EFO	Disorder of protein O-glycosylation	Disorder of O-mannosylglycan synthesis
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:309469	"" []	574632	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Disorder of O-mannosylglycan synthesis
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:309469	"" []	1157446	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of O-mannosylglycan synthesis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309469	"" []	2040542	\N	\N	EFO	4	EFO	genetic disorder	Disorder of O-mannosylglycan synthesis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309469	"" []	2040543	\N	\N	EFO	4	EFO	metabolic disease	Disorder of O-mannosylglycan synthesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309469	"" []	3190856	\N	\N	EFO	5	EFO	disease	Disorder of O-mannosylglycan synthesis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309469	"" []	3190857	\N	\N	EFO	5	EFO	disease	Disorder of O-mannosylglycan synthesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309469	"" []	4397645	\N	\N	EFO	6	EFO	disposition	Disorder of O-mannosylglycan synthesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309469	"" []	5415088	\N	\N	EFO	7	EFO	material property	Disorder of O-mannosylglycan synthesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309469	"" []	6151140	\N	\N	EFO	8	EFO	experimental factor	Disorder of O-mannosylglycan synthesis
Orphanet:3095	\N	\N	"" []	Orphanet:3095	"" []	76338	\N	\N	EFO	0	EFO	Atypical Rett syndrome	Atypical Rett syndrome
Orphanet:166472	Orphanet:3095	\N	"" []	Orphanet:3095	"" []	219253	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Atypical Rett syndrome
Orphanet:168778	Orphanet:3095	\N	"" []	Orphanet:3095	"" []	219254	\N	\N	EFO	1	EFO	Rare pervasive developmental disorder	Atypical Rett syndrome
Orphanet:306765	Orphanet:3095	\N	"" []	Orphanet:3095	"" []	219255	\N	\N	EFO	1	EFO	Motor stereotypies	Atypical Rett syndrome
Orphanet:98464	Orphanet:3095	\N	"" []	Orphanet:3095	"" []	219256	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Atypical Rett syndrome
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:3095	"" []	574633	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Atypical Rett syndrome
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:3095	"" []	574634	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Atypical Rett syndrome
Orphanet:183521	Orphanet:306765	\N	"" []	Orphanet:3095	"" []	574635	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Atypical Rett syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3095	"" []	574636	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Atypical Rett syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:3095	"" []	1157447	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Atypical Rett syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3095	"" []	3190860	\N	\N	EFO	5	EFO	genetic disorder	Atypical Rett syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:3095	"" []	1157449	\N	\N	EFO	3	EFO	movement disorder	Atypical Rett syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:3095	"" []	1157450	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Atypical Rett syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3095	"" []	1157451	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Atypical Rett syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3095	"" []	4066931	\N	\N	EFO	6	EFO	disease	Atypical Rett syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3095	"" []	2040546	\N	\N	EFO	4	EFO	nervous system disease	Atypical Rett syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3095	"" []	2040547	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Atypical Rett syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3095	"" []	5059968	\N	\N	EFO	7	EFO	disposition	Atypical Rett syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3095	"" []	3190859	\N	\N	EFO	5	EFO	disease	Atypical Rett syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3095	"" []	5877302	\N	\N	EFO	8	EFO	material property	Atypical Rett syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3095	"" []	6470538	\N	\N	EFO	9	EFO	experimental factor	Atypical Rett syndrome
Orphanet:309505	\N	\N	"" []	Orphanet:309505	"" []	76339	\N	\N	EFO	0	EFO	Disorder of fucoglycosan synthesis	Disorder of fucoglycosan synthesis
Orphanet:309447	Orphanet:309505	\N	"" []	Orphanet:309505	"" []	219257	\N	\N	EFO	1	EFO	Disorder of protein O-glycosylation	Disorder of fucoglycosan synthesis
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:309505	"" []	574637	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Disorder of fucoglycosan synthesis
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:309505	"" []	1157452	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of fucoglycosan synthesis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309505	"" []	2040548	\N	\N	EFO	4	EFO	genetic disorder	Disorder of fucoglycosan synthesis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309505	"" []	2040549	\N	\N	EFO	4	EFO	metabolic disease	Disorder of fucoglycosan synthesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309505	"" []	3190861	\N	\N	EFO	5	EFO	disease	Disorder of fucoglycosan synthesis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309505	"" []	3190862	\N	\N	EFO	5	EFO	disease	Disorder of fucoglycosan synthesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309505	"" []	4397647	\N	\N	EFO	6	EFO	disposition	Disorder of fucoglycosan synthesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309505	"" []	5415090	\N	\N	EFO	7	EFO	material property	Disorder of fucoglycosan synthesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309505	"" []	6151141	\N	\N	EFO	8	EFO	experimental factor	Disorder of fucoglycosan synthesis
Orphanet:309515	\N	\N	"" []	Orphanet:309515	"" []	76340	\N	\N	EFO	0	EFO	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Orphanet:137	Orphanet:309515	\N	"" []	Orphanet:309515	"" []	219258	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:309515	"" []	574638	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309515	"" []	1157453	\N	\N	EFO	3	EFO	genetic disorder	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309515	"" []	1157454	\N	\N	EFO	3	EFO	metabolic disease	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309515	"" []	2040550	\N	\N	EFO	4	EFO	disease	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309515	"" []	2040551	\N	\N	EFO	4	EFO	disease	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309515	"" []	3190863	\N	\N	EFO	5	EFO	disposition	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309515	"" []	4397648	\N	\N	EFO	6	EFO	material property	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309515	"" []	5415091	\N	\N	EFO	7	EFO	experimental factor	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Orphanet:309526	\N	\N	"" []	Orphanet:309526	"" []	76341	\N	\N	EFO	0	EFO	Disorder of multiple glycosylation	Disorder of multiple glycosylation
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:309526	"" []	219259	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation	Disorder of multiple glycosylation
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:309526	"" []	574639	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of multiple glycosylation
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309526	"" []	1157455	\N	\N	EFO	3	EFO	genetic disorder	Disorder of multiple glycosylation
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309526	"" []	1157456	\N	\N	EFO	3	EFO	metabolic disease	Disorder of multiple glycosylation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309526	"" []	2040552	\N	\N	EFO	4	EFO	disease	Disorder of multiple glycosylation
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309526	"" []	2040553	\N	\N	EFO	4	EFO	disease	Disorder of multiple glycosylation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309526	"" []	3190864	\N	\N	EFO	5	EFO	disposition	Disorder of multiple glycosylation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309526	"" []	4397649	\N	\N	EFO	6	EFO	material property	Disorder of multiple glycosylation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309526	"" []	5415092	\N	\N	EFO	7	EFO	experimental factor	Disorder of multiple glycosylation
Orphanet:309568	\N	\N	"" []	Orphanet:309568	"" []	76342	\N	\N	EFO	0	EFO	Defect in conserved oligomeric Golgi complex	Defect in conserved oligomeric Golgi complex
Orphanet:309526	Orphanet:309568	\N	"" []	Orphanet:309568	"" []	219260	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	Defect in conserved oligomeric Golgi complex
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:309568	"" []	574640	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Defect in conserved oligomeric Golgi complex
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:309568	"" []	1157457	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Defect in conserved oligomeric Golgi complex
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309568	"" []	2040554	\N	\N	EFO	4	EFO	genetic disorder	Defect in conserved oligomeric Golgi complex
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309568	"" []	2040555	\N	\N	EFO	4	EFO	metabolic disease	Defect in conserved oligomeric Golgi complex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309568	"" []	3190865	\N	\N	EFO	5	EFO	disease	Defect in conserved oligomeric Golgi complex
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309568	"" []	3190866	\N	\N	EFO	5	EFO	disease	Defect in conserved oligomeric Golgi complex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309568	"" []	4397650	\N	\N	EFO	6	EFO	disposition	Defect in conserved oligomeric Golgi complex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309568	"" []	5415093	\N	\N	EFO	7	EFO	material property	Defect in conserved oligomeric Golgi complex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309568	"" []	6151142	\N	\N	EFO	8	EFO	experimental factor	Defect in conserved oligomeric Golgi complex
Orphanet:3097	\N	\N	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	76343	\N	\N	EFO	0	EFO	Meacham syndrome	Meacham syndrome
Orphanet:325638	Orphanet:3097	\N	"" []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	219261	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Meacham syndrome
Orphanet:98087	Orphanet:3097	\N	"" []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	219262	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	Meacham syndrome
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	574641	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Meacham syndrome
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	574642	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Meacham syndrome
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	1157458	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Meacham syndrome
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	1157459	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Meacham syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	2040556	\N	\N	EFO	4	EFO	genetic disorder	Meacham syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	2040557	\N	\N	EFO	4	EFO	reproductive system disease	Meacham syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	2040558	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Meacham syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	2040559	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Meacham syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	2040560	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Meacham syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	4397652	\N	\N	EFO	6	EFO	disease	Meacham syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	3190868	\N	\N	EFO	5	EFO	disease	Meacham syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	3190869	\N	\N	EFO	5	EFO	genetic disorder	Meacham syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	3190870	\N	\N	EFO	5	EFO	genetic disorder	Meacham syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	3190871	\N	\N	EFO	5	EFO	endocrine system disease	Meacham syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	3190872	\N	\N	EFO	5	EFO	genetic disorder	Meacham syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	5182594	\N	\N	EFO	7	EFO	disposition	Meacham syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	4397653	\N	\N	EFO	6	EFO	disease	Meacham syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	5997967	\N	\N	EFO	8	EFO	material property	Meacham syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3097	"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." []	6551288	\N	\N	EFO	9	EFO	experimental factor	Meacham syndrome
Orphanet:309778	\N	\N	"" []	Orphanet:309778	"" []	76344	\N	\N	EFO	0	EFO	Defect in V-ATPase	Defect in V-ATPase
Orphanet:309526	Orphanet:309778	\N	"" []	Orphanet:309778	"" []	219263	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	Defect in V-ATPase
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:309778	"" []	574643	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Defect in V-ATPase
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:309778	"" []	1157460	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Defect in V-ATPase
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309778	"" []	2040561	\N	\N	EFO	4	EFO	genetic disorder	Defect in V-ATPase
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309778	"" []	2040562	\N	\N	EFO	4	EFO	metabolic disease	Defect in V-ATPase
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309778	"" []	3190873	\N	\N	EFO	5	EFO	disease	Defect in V-ATPase
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309778	"" []	3190874	\N	\N	EFO	5	EFO	disease	Defect in V-ATPase
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309778	"" []	4397654	\N	\N	EFO	6	EFO	disposition	Defect in V-ATPase
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309778	"" []	5415095	\N	\N	EFO	7	EFO	material property	Defect in V-ATPase
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309778	"" []	6151144	\N	\N	EFO	8	EFO	experimental factor	Defect in V-ATPase
Orphanet:309789	\N	\N	"" []	Orphanet:309789	"" []	76345	\N	\N	EFO	0	EFO	Rhizomelic chondrodysplasia punctata type 1	Rhizomelic chondrodysplasia punctata type 1
Orphanet:177	Orphanet:309789	\N	"" []	Orphanet:309789	"" []	219264	\N	\N	EFO	1	EFO	Rhizomelic chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata type 1
Orphanet:68373	Orphanet:177	\N	"" []	Orphanet:309789	"" []	574644	\N	\N	EFO	2	EFO	Peroxisomal disease	Rhizomelic chondrodysplasia punctata type 1
Orphanet:68385	Orphanet:177	\N	"" []	Orphanet:309789	"" []	574645	\N	\N	EFO	2	EFO	Neurometabolic disease	Rhizomelic chondrodysplasia punctata type 1
Orphanet:93442	Orphanet:177	\N	"" []	Orphanet:309789	"" []	574646	\N	\N	EFO	2	EFO	Chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata type 1
Orphanet:98648	Orphanet:177	\N	"" []	Orphanet:309789	"" []	574647	\N	\N	EFO	2	EFO	Musculoskeletal disease with cataract	Rhizomelic chondrodysplasia punctata type 1
Orphanet:98712	Orphanet:177	\N	"" []	Orphanet:309789	"" []	574648	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Rhizomelic chondrodysplasia punctata type 1
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:309789	"" []	1157461	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Rhizomelic chondrodysplasia punctata type 1
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309789	"" []	1157462	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Rhizomelic chondrodysplasia punctata type 1
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:309789	"" []	1157463	\N	\N	EFO	3	EFO	Primary bone dysplasia	Rhizomelic chondrodysplasia punctata type 1
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:309789	"" []	1157464	\N	\N	EFO	3	EFO	Systemic disease with cataract	Rhizomelic chondrodysplasia punctata type 1
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:309789	"" []	1157465	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Rhizomelic chondrodysplasia punctata type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309789	"" []	2040563	\N	\N	EFO	4	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309789	"" []	2040564	\N	\N	EFO	4	EFO	metabolic disease	Rhizomelic chondrodysplasia punctata type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309789	"" []	2040565	\N	\N	EFO	4	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 1
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:309789	"" []	2040566	\N	\N	EFO	4	EFO	Rare genetic bone disease	Rhizomelic chondrodysplasia punctata type 1
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:309789	"" []	2040567	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Rhizomelic chondrodysplasia punctata type 1
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:309789	"" []	2040568	\N	\N	EFO	4	EFO	Syndromic cataract	Rhizomelic chondrodysplasia punctata type 1
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309789	"" []	2040569	\N	\N	EFO	4	EFO	Rare genetic eye disease	Rhizomelic chondrodysplasia punctata type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309789	"" []	6410125	\N	\N	EFO	9	EFO	disease	Rhizomelic chondrodysplasia punctata type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309789	"" []	3190876	\N	\N	EFO	5	EFO	disease	Rhizomelic chondrodysplasia punctata type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309789	"" []	3190877	\N	\N	EFO	5	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:309789	"" []	3190878	\N	\N	EFO	5	EFO	bone disease	Rhizomelic chondrodysplasia punctata type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:309789	"" []	3190879	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Rhizomelic chondrodysplasia punctata type 1
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:309789	"" []	3190880	\N	\N	EFO	5	EFO	Rare cataract	Rhizomelic chondrodysplasia punctata type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309789	"" []	6151146	\N	\N	EFO	8	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309789	"" []	6151147	\N	\N	EFO	8	EFO	eye disease	Rhizomelic chondrodysplasia punctata type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309789	"" []	6778735	\N	\N	EFO	10	EFO	disposition	Rhizomelic chondrodysplasia punctata type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:309789	"" []	4397657	\N	\N	EFO	6	EFO	skeletal system disease	Rhizomelic chondrodysplasia punctata type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309789	"" []	4397658	\N	\N	EFO	6	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 1
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:309789	"" []	4397659	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Rhizomelic chondrodysplasia punctata type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309789	"" []	6410126	\N	\N	EFO	9	EFO	disease	Rhizomelic chondrodysplasia punctata type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309789	"" []	7029931	\N	\N	EFO	11	EFO	material property	Rhizomelic chondrodysplasia punctata type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309789	"" []	5415097	\N	\N	EFO	7	EFO	disease	Rhizomelic chondrodysplasia punctata type 1
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:309789	"" []	5415099	\N	\N	EFO	7	EFO	Rare genetic eye disease	Rhizomelic chondrodysplasia punctata type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309789	"" []	7181795	\N	\N	EFO	12	EFO	experimental factor	Rhizomelic chondrodysplasia punctata type 1
Orphanet:309796	\N	\N	"" []	Orphanet:309796	"" []	76346	\N	\N	EFO	0	EFO	Rhizomelic chondrodysplasia punctata type 2	Rhizomelic chondrodysplasia punctata type 2
Orphanet:177	Orphanet:309796	\N	"" []	Orphanet:309796	"" []	219265	\N	\N	EFO	1	EFO	Rhizomelic chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata type 2
Orphanet:68373	Orphanet:177	\N	"" []	Orphanet:309796	"" []	574649	\N	\N	EFO	2	EFO	Peroxisomal disease	Rhizomelic chondrodysplasia punctata type 2
Orphanet:68385	Orphanet:177	\N	"" []	Orphanet:309796	"" []	574650	\N	\N	EFO	2	EFO	Neurometabolic disease	Rhizomelic chondrodysplasia punctata type 2
Orphanet:93442	Orphanet:177	\N	"" []	Orphanet:309796	"" []	574651	\N	\N	EFO	2	EFO	Chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata type 2
Orphanet:98648	Orphanet:177	\N	"" []	Orphanet:309796	"" []	574652	\N	\N	EFO	2	EFO	Musculoskeletal disease with cataract	Rhizomelic chondrodysplasia punctata type 2
Orphanet:98712	Orphanet:177	\N	"" []	Orphanet:309796	"" []	574653	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Rhizomelic chondrodysplasia punctata type 2
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:309796	"" []	1157466	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Rhizomelic chondrodysplasia punctata type 2
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309796	"" []	1157467	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Rhizomelic chondrodysplasia punctata type 2
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:309796	"" []	1157468	\N	\N	EFO	3	EFO	Primary bone dysplasia	Rhizomelic chondrodysplasia punctata type 2
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:309796	"" []	1157469	\N	\N	EFO	3	EFO	Systemic disease with cataract	Rhizomelic chondrodysplasia punctata type 2
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:309796	"" []	1157470	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Rhizomelic chondrodysplasia punctata type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309796	"" []	2040570	\N	\N	EFO	4	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309796	"" []	2040571	\N	\N	EFO	4	EFO	metabolic disease	Rhizomelic chondrodysplasia punctata type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309796	"" []	2040572	\N	\N	EFO	4	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 2
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:309796	"" []	2040573	\N	\N	EFO	4	EFO	Rare genetic bone disease	Rhizomelic chondrodysplasia punctata type 2
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:309796	"" []	2040574	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Rhizomelic chondrodysplasia punctata type 2
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:309796	"" []	2040575	\N	\N	EFO	4	EFO	Syndromic cataract	Rhizomelic chondrodysplasia punctata type 2
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309796	"" []	2040576	\N	\N	EFO	4	EFO	Rare genetic eye disease	Rhizomelic chondrodysplasia punctata type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309796	"" []	6410127	\N	\N	EFO	9	EFO	disease	Rhizomelic chondrodysplasia punctata type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309796	"" []	3190884	\N	\N	EFO	5	EFO	disease	Rhizomelic chondrodysplasia punctata type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309796	"" []	3190885	\N	\N	EFO	5	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:309796	"" []	3190886	\N	\N	EFO	5	EFO	bone disease	Rhizomelic chondrodysplasia punctata type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:309796	"" []	3190887	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Rhizomelic chondrodysplasia punctata type 2
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:309796	"" []	3190888	\N	\N	EFO	5	EFO	Rare cataract	Rhizomelic chondrodysplasia punctata type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309796	"" []	6151149	\N	\N	EFO	8	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309796	"" []	6151150	\N	\N	EFO	8	EFO	eye disease	Rhizomelic chondrodysplasia punctata type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309796	"" []	6778736	\N	\N	EFO	10	EFO	disposition	Rhizomelic chondrodysplasia punctata type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:309796	"" []	4397663	\N	\N	EFO	6	EFO	skeletal system disease	Rhizomelic chondrodysplasia punctata type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309796	"" []	4397664	\N	\N	EFO	6	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 2
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:309796	"" []	4397665	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Rhizomelic chondrodysplasia punctata type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309796	"" []	6410128	\N	\N	EFO	9	EFO	disease	Rhizomelic chondrodysplasia punctata type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309796	"" []	7029932	\N	\N	EFO	11	EFO	material property	Rhizomelic chondrodysplasia punctata type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309796	"" []	5415101	\N	\N	EFO	7	EFO	disease	Rhizomelic chondrodysplasia punctata type 2
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:309796	"" []	5415103	\N	\N	EFO	7	EFO	Rare genetic eye disease	Rhizomelic chondrodysplasia punctata type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309796	"" []	7181796	\N	\N	EFO	12	EFO	experimental factor	Rhizomelic chondrodysplasia punctata type 2
Orphanet:3098	\N	\N	"" []	Orphanet:3098	"" []	76347	\N	\N	EFO	0	EFO	Rhizomelic syndrome, Urbach type	Rhizomelic syndrome, Urbach type
Orphanet:93438	Orphanet:3098	\N	"" []	Orphanet:3098	"" []	219266	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Rhizomelic syndrome, Urbach type
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:3098	"" []	574654	\N	\N	EFO	2	EFO	Primary bone dysplasia	Rhizomelic syndrome, Urbach type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3098	"" []	1157471	\N	\N	EFO	3	EFO	Rare genetic bone disease	Rhizomelic syndrome, Urbach type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3098	"" []	1157472	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Rhizomelic syndrome, Urbach type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3098	"" []	2040577	\N	\N	EFO	4	EFO	genetic disorder	Rhizomelic syndrome, Urbach type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3098	"" []	2040578	\N	\N	EFO	4	EFO	bone disease	Rhizomelic syndrome, Urbach type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3098	"" []	2040579	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rhizomelic syndrome, Urbach type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3098	"" []	4397669	\N	\N	EFO	6	EFO	disease	Rhizomelic syndrome, Urbach type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3098	"" []	3190892	\N	\N	EFO	5	EFO	skeletal system disease	Rhizomelic syndrome, Urbach type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3098	"" []	3190893	\N	\N	EFO	5	EFO	genetic disorder	Rhizomelic syndrome, Urbach type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3098	"" []	5182597	\N	\N	EFO	7	EFO	disposition	Rhizomelic syndrome, Urbach type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3098	"" []	4397668	\N	\N	EFO	6	EFO	disease	Rhizomelic syndrome, Urbach type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3098	"" []	5997970	\N	\N	EFO	8	EFO	material property	Rhizomelic syndrome, Urbach type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3098	"" []	6551291	\N	\N	EFO	9	EFO	experimental factor	Rhizomelic syndrome, Urbach type
Orphanet:309803	\N	\N	"" []	Orphanet:309803	"" []	76348	\N	\N	EFO	0	EFO	Rhizomelic chondrodysplasia punctata type 3	Rhizomelic chondrodysplasia punctata type 3
Orphanet:177	Orphanet:309803	\N	"" []	Orphanet:309803	"" []	219267	\N	\N	EFO	1	EFO	Rhizomelic chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata type 3
Orphanet:68373	Orphanet:177	\N	"" []	Orphanet:309803	"" []	574655	\N	\N	EFO	2	EFO	Peroxisomal disease	Rhizomelic chondrodysplasia punctata type 3
Orphanet:68385	Orphanet:177	\N	"" []	Orphanet:309803	"" []	574656	\N	\N	EFO	2	EFO	Neurometabolic disease	Rhizomelic chondrodysplasia punctata type 3
Orphanet:93442	Orphanet:177	\N	"" []	Orphanet:309803	"" []	574657	\N	\N	EFO	2	EFO	Chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata type 3
Orphanet:98648	Orphanet:177	\N	"" []	Orphanet:309803	"" []	574658	\N	\N	EFO	2	EFO	Musculoskeletal disease with cataract	Rhizomelic chondrodysplasia punctata type 3
Orphanet:98712	Orphanet:177	\N	"" []	Orphanet:309803	"" []	574659	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Rhizomelic chondrodysplasia punctata type 3
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:309803	"" []	1157473	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Rhizomelic chondrodysplasia punctata type 3
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:309803	"" []	1157474	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Rhizomelic chondrodysplasia punctata type 3
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:309803	"" []	1157475	\N	\N	EFO	3	EFO	Primary bone dysplasia	Rhizomelic chondrodysplasia punctata type 3
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:309803	"" []	1157476	\N	\N	EFO	3	EFO	Systemic disease with cataract	Rhizomelic chondrodysplasia punctata type 3
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:309803	"" []	1157477	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Rhizomelic chondrodysplasia punctata type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309803	"" []	2040580	\N	\N	EFO	4	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309803	"" []	2040581	\N	\N	EFO	4	EFO	metabolic disease	Rhizomelic chondrodysplasia punctata type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309803	"" []	2040582	\N	\N	EFO	4	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 3
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:309803	"" []	2040583	\N	\N	EFO	4	EFO	Rare genetic bone disease	Rhizomelic chondrodysplasia punctata type 3
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:309803	"" []	2040584	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Rhizomelic chondrodysplasia punctata type 3
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:309803	"" []	2040585	\N	\N	EFO	4	EFO	Syndromic cataract	Rhizomelic chondrodysplasia punctata type 3
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:309803	"" []	2040586	\N	\N	EFO	4	EFO	Rare genetic eye disease	Rhizomelic chondrodysplasia punctata type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309803	"" []	6410129	\N	\N	EFO	9	EFO	disease	Rhizomelic chondrodysplasia punctata type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309803	"" []	3190895	\N	\N	EFO	5	EFO	disease	Rhizomelic chondrodysplasia punctata type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309803	"" []	3190896	\N	\N	EFO	5	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:309803	"" []	3190897	\N	\N	EFO	5	EFO	bone disease	Rhizomelic chondrodysplasia punctata type 3
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:309803	"" []	3190898	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Rhizomelic chondrodysplasia punctata type 3
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:309803	"" []	3190899	\N	\N	EFO	5	EFO	Rare cataract	Rhizomelic chondrodysplasia punctata type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309803	"" []	6151153	\N	\N	EFO	8	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:309803	"" []	6151154	\N	\N	EFO	8	EFO	eye disease	Rhizomelic chondrodysplasia punctata type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309803	"" []	6778737	\N	\N	EFO	10	EFO	disposition	Rhizomelic chondrodysplasia punctata type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:309803	"" []	4397672	\N	\N	EFO	6	EFO	skeletal system disease	Rhizomelic chondrodysplasia punctata type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309803	"" []	4397673	\N	\N	EFO	6	EFO	genetic disorder	Rhizomelic chondrodysplasia punctata type 3
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:309803	"" []	4397674	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Rhizomelic chondrodysplasia punctata type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309803	"" []	6410130	\N	\N	EFO	9	EFO	disease	Rhizomelic chondrodysplasia punctata type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309803	"" []	7029933	\N	\N	EFO	11	EFO	material property	Rhizomelic chondrodysplasia punctata type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309803	"" []	5415106	\N	\N	EFO	7	EFO	disease	Rhizomelic chondrodysplasia punctata type 3
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:309803	"" []	5415108	\N	\N	EFO	7	EFO	Rare genetic eye disease	Rhizomelic chondrodysplasia punctata type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309803	"" []	7181797	\N	\N	EFO	12	EFO	experimental factor	Rhizomelic chondrodysplasia punctata type 3
Orphanet:309810	\N	\N	"" []	Orphanet:309810	"" []	76349	\N	\N	EFO	0	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	Disorder of peroxisomal alpha-, beta- and omega-oxidation
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:309810	"" []	219268	\N	\N	EFO	1	EFO	Peroxisomal disease	Disorder of peroxisomal alpha-, beta- and omega-oxidation
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:309810	"" []	574660	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of peroxisomal alpha-, beta- and omega-oxidation
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309810	"" []	1157478	\N	\N	EFO	3	EFO	genetic disorder	Disorder of peroxisomal alpha-, beta- and omega-oxidation
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309810	"" []	1157479	\N	\N	EFO	3	EFO	metabolic disease	Disorder of peroxisomal alpha-, beta- and omega-oxidation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309810	"" []	2040587	\N	\N	EFO	4	EFO	disease	Disorder of peroxisomal alpha-, beta- and omega-oxidation
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309810	"" []	2040588	\N	\N	EFO	4	EFO	disease	Disorder of peroxisomal alpha-, beta- and omega-oxidation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309810	"" []	3190902	\N	\N	EFO	5	EFO	disposition	Disorder of peroxisomal alpha-, beta- and omega-oxidation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309810	"" []	4397676	\N	\N	EFO	6	EFO	material property	Disorder of peroxisomal alpha-, beta- and omega-oxidation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309810	"" []	5415109	\N	\N	EFO	7	EFO	experimental factor	Disorder of peroxisomal alpha-, beta- and omega-oxidation
Orphanet:309813	\N	\N	"" []	Orphanet:309813	"" []	76350	\N	\N	EFO	0	EFO	Disorder of porphyrin and haem metabolism	Disorder of porphyrin and haem metabolism
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:309813	"" []	219269	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Disorder of porphyrin and haem metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309813	"" []	574661	\N	\N	EFO	2	EFO	genetic disorder	Disorder of porphyrin and haem metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309813	"" []	574662	\N	\N	EFO	2	EFO	metabolic disease	Disorder of porphyrin and haem metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309813	"" []	1157480	\N	\N	EFO	3	EFO	disease	Disorder of porphyrin and haem metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309813	"" []	1157481	\N	\N	EFO	3	EFO	disease	Disorder of porphyrin and haem metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309813	"" []	2040589	\N	\N	EFO	4	EFO	disposition	Disorder of porphyrin and haem metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309813	"" []	3190903	\N	\N	EFO	5	EFO	material property	Disorder of porphyrin and haem metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309813	"" []	4397677	\N	\N	EFO	6	EFO	experimental factor	Disorder of porphyrin and haem metabolism
Orphanet:309816	\N	\N	"" []	Orphanet:309816	"" []	76351	\N	\N	EFO	0	EFO	Disorder of bilirubin metabolism and excretion	Disorder of bilirubin metabolism and excretion
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:309816	"" []	219270	\N	\N	EFO	1	EFO	Disorder of porphyrin and haem metabolism	Disorder of bilirubin metabolism and excretion
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:309816	"" []	574663	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of bilirubin metabolism and excretion
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309816	"" []	1157482	\N	\N	EFO	3	EFO	genetic disorder	Disorder of bilirubin metabolism and excretion
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309816	"" []	1157483	\N	\N	EFO	3	EFO	metabolic disease	Disorder of bilirubin metabolism and excretion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309816	"" []	2040590	\N	\N	EFO	4	EFO	disease	Disorder of bilirubin metabolism and excretion
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309816	"" []	2040591	\N	\N	EFO	4	EFO	disease	Disorder of bilirubin metabolism and excretion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309816	"" []	3190904	\N	\N	EFO	5	EFO	disposition	Disorder of bilirubin metabolism and excretion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309816	"" []	4397678	\N	\N	EFO	6	EFO	material property	Disorder of bilirubin metabolism and excretion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309816	"" []	5415110	\N	\N	EFO	7	EFO	experimental factor	Disorder of bilirubin metabolism and excretion
Orphanet:309819	\N	\N	"" []	Orphanet:309819	"" []	76352	\N	\N	EFO	0	EFO	Disorder of pterin metabolism	Disorder of pterin metabolism
Orphanet:79169	Orphanet:309819	\N	"" []	Orphanet:309819	"" []	219271	\N	\N	EFO	1	EFO	Disorder of neurotransmitter metabolism and transport	Disorder of pterin metabolism
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:309819	"" []	574664	\N	\N	EFO	2	EFO	Disorder of biogenic amine metabolism and transport	Disorder of pterin metabolism
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:309819	"" []	1157484	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of pterin metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309819	"" []	2040592	\N	\N	EFO	4	EFO	genetic disorder	Disorder of pterin metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309819	"" []	2040593	\N	\N	EFO	4	EFO	metabolic disease	Disorder of pterin metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309819	"" []	3190905	\N	\N	EFO	5	EFO	disease	Disorder of pterin metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309819	"" []	3190906	\N	\N	EFO	5	EFO	disease	Disorder of pterin metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309819	"" []	4397679	\N	\N	EFO	6	EFO	disposition	Disorder of pterin metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309819	"" []	5415111	\N	\N	EFO	7	EFO	material property	Disorder of pterin metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309819	"" []	6151155	\N	\N	EFO	8	EFO	experimental factor	Disorder of pterin metabolism
Orphanet:309824	\N	\N	"" []	Orphanet:309824	"" []	76353	\N	\N	EFO	0	EFO	Disorder of metabolite absorption and transport	Disorder of metabolite absorption and transport
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:309824	"" []	219272	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Disorder of metabolite absorption and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309824	"" []	574665	\N	\N	EFO	2	EFO	genetic disorder	Disorder of metabolite absorption and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309824	"" []	574666	\N	\N	EFO	2	EFO	metabolic disease	Disorder of metabolite absorption and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309824	"" []	1157485	\N	\N	EFO	3	EFO	disease	Disorder of metabolite absorption and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309824	"" []	1157486	\N	\N	EFO	3	EFO	disease	Disorder of metabolite absorption and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309824	"" []	2040594	\N	\N	EFO	4	EFO	disposition	Disorder of metabolite absorption and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309824	"" []	3190907	\N	\N	EFO	5	EFO	material property	Disorder of metabolite absorption and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309824	"" []	4397680	\N	\N	EFO	6	EFO	experimental factor	Disorder of metabolite absorption and transport
Orphanet:309827	\N	\N	"" []	Orphanet:309827	"" []	76354	\N	\N	EFO	0	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Disorder of vitamin and non-protein cofactor absorption and transport
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:309827	"" []	219273	\N	\N	EFO	1	EFO	Disorder of metabolite absorption and transport	Disorder of vitamin and non-protein cofactor absorption and transport
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:309827	"" []	574667	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of vitamin and non-protein cofactor absorption and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309827	"" []	1157487	\N	\N	EFO	3	EFO	genetic disorder	Disorder of vitamin and non-protein cofactor absorption and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309827	"" []	1157488	\N	\N	EFO	3	EFO	metabolic disease	Disorder of vitamin and non-protein cofactor absorption and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309827	"" []	2040595	\N	\N	EFO	4	EFO	disease	Disorder of vitamin and non-protein cofactor absorption and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309827	"" []	2040596	\N	\N	EFO	4	EFO	disease	Disorder of vitamin and non-protein cofactor absorption and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309827	"" []	3190908	\N	\N	EFO	5	EFO	disposition	Disorder of vitamin and non-protein cofactor absorption and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309827	"" []	4397681	\N	\N	EFO	6	EFO	material property	Disorder of vitamin and non-protein cofactor absorption and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309827	"" []	5415112	\N	\N	EFO	7	EFO	experimental factor	Disorder of vitamin and non-protein cofactor absorption and transport
Orphanet:309830	\N	\N	"" []	Orphanet:309830	"" []	76355	\N	\N	EFO	0	EFO	Disorder of catecholamine synthesis	Disorder of catecholamine synthesis
Orphanet:79169	Orphanet:309830	\N	"" []	Orphanet:309830	"" []	219274	\N	\N	EFO	1	EFO	Disorder of neurotransmitter metabolism and transport	Disorder of catecholamine synthesis
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:309830	"" []	574668	\N	\N	EFO	2	EFO	Disorder of biogenic amine metabolism and transport	Disorder of catecholamine synthesis
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:309830	"" []	1157489	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of catecholamine synthesis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309830	"" []	2040597	\N	\N	EFO	4	EFO	genetic disorder	Disorder of catecholamine synthesis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309830	"" []	2040598	\N	\N	EFO	4	EFO	metabolic disease	Disorder of catecholamine synthesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309830	"" []	3190909	\N	\N	EFO	5	EFO	disease	Disorder of catecholamine synthesis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309830	"" []	3190910	\N	\N	EFO	5	EFO	disease	Disorder of catecholamine synthesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309830	"" []	4397682	\N	\N	EFO	6	EFO	disposition	Disorder of catecholamine synthesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309830	"" []	5415113	\N	\N	EFO	7	EFO	material property	Disorder of catecholamine synthesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309830	"" []	6151156	\N	\N	EFO	8	EFO	experimental factor	Disorder of catecholamine synthesis
Orphanet:309833	\N	\N	"" []	Orphanet:309833	"" []	76356	\N	\N	EFO	0	EFO	Disorder of other vitamins and cofactors metabolism and transport	Disorder of other vitamins and cofactors metabolism and transport
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:309833	"" []	219275	\N	\N	EFO	1	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Disorder of other vitamins and cofactors metabolism and transport
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:309833	"" []	574669	\N	\N	EFO	2	EFO	Disorder of metabolite absorption and transport	Disorder of other vitamins and cofactors metabolism and transport
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:309833	"" []	1157490	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of other vitamins and cofactors metabolism and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309833	"" []	2040599	\N	\N	EFO	4	EFO	genetic disorder	Disorder of other vitamins and cofactors metabolism and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309833	"" []	2040600	\N	\N	EFO	4	EFO	metabolic disease	Disorder of other vitamins and cofactors metabolism and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309833	"" []	3190911	\N	\N	EFO	5	EFO	disease	Disorder of other vitamins and cofactors metabolism and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309833	"" []	3190912	\N	\N	EFO	5	EFO	disease	Disorder of other vitamins and cofactors metabolism and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309833	"" []	4397683	\N	\N	EFO	6	EFO	disposition	Disorder of other vitamins and cofactors metabolism and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309833	"" []	5415114	\N	\N	EFO	7	EFO	material property	Disorder of other vitamins and cofactors metabolism and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309833	"" []	6151157	\N	\N	EFO	8	EFO	experimental factor	Disorder of other vitamins and cofactors metabolism and transport
Orphanet:309836	\N	\N	"" []	Orphanet:309836	"" []	76357	\N	\N	EFO	0	EFO	Disorder of mineral absorption and transport	Disorder of mineral absorption and transport
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:309836	"" []	219276	\N	\N	EFO	1	EFO	Disorder of metabolite absorption and transport	Disorder of mineral absorption and transport
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:309836	"" []	574670	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of mineral absorption and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309836	"" []	1157491	\N	\N	EFO	3	EFO	genetic disorder	Disorder of mineral absorption and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309836	"" []	1157492	\N	\N	EFO	3	EFO	metabolic disease	Disorder of mineral absorption and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309836	"" []	2040601	\N	\N	EFO	4	EFO	disease	Disorder of mineral absorption and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309836	"" []	2040602	\N	\N	EFO	4	EFO	disease	Disorder of mineral absorption and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309836	"" []	3190913	\N	\N	EFO	5	EFO	disposition	Disorder of mineral absorption and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309836	"" []	4397684	\N	\N	EFO	6	EFO	material property	Disorder of mineral absorption and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309836	"" []	5415115	\N	\N	EFO	7	EFO	experimental factor	Disorder of mineral absorption and transport
Orphanet:309839	\N	\N	"" []	Orphanet:309839	"" []	76358	\N	\N	EFO	0	EFO	Disorder of copper metabolism	Disorder of copper metabolism
Orphanet:309836	Orphanet:309839	\N	"" []	Orphanet:309839	"" []	219277	\N	\N	EFO	1	EFO	Disorder of mineral absorption and transport	Disorder of copper metabolism
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:309839	"" []	574671	\N	\N	EFO	2	EFO	Disorder of metabolite absorption and transport	Disorder of copper metabolism
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:309839	"" []	1157493	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of copper metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309839	"" []	2040603	\N	\N	EFO	4	EFO	genetic disorder	Disorder of copper metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309839	"" []	2040604	\N	\N	EFO	4	EFO	metabolic disease	Disorder of copper metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309839	"" []	3190914	\N	\N	EFO	5	EFO	disease	Disorder of copper metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309839	"" []	3190915	\N	\N	EFO	5	EFO	disease	Disorder of copper metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309839	"" []	4397685	\N	\N	EFO	6	EFO	disposition	Disorder of copper metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309839	"" []	5415116	\N	\N	EFO	7	EFO	material property	Disorder of copper metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309839	"" []	6151158	\N	\N	EFO	8	EFO	experimental factor	Disorder of copper metabolism
Orphanet:309842	\N	\N	"" []	Orphanet:309842	"" []	76359	\N	\N	EFO	0	EFO	Disorder of iron metabolism and transport	Disorder of iron metabolism and transport
Orphanet:309836	Orphanet:309842	\N	"" []	Orphanet:309842	"" []	219278	\N	\N	EFO	1	EFO	Disorder of mineral absorption and transport	Disorder of iron metabolism and transport
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:309842	"" []	574672	\N	\N	EFO	2	EFO	Disorder of metabolite absorption and transport	Disorder of iron metabolism and transport
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:309842	"" []	1157494	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of iron metabolism and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309842	"" []	2040605	\N	\N	EFO	4	EFO	genetic disorder	Disorder of iron metabolism and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309842	"" []	2040606	\N	\N	EFO	4	EFO	metabolic disease	Disorder of iron metabolism and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309842	"" []	3190916	\N	\N	EFO	5	EFO	disease	Disorder of iron metabolism and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309842	"" []	3190917	\N	\N	EFO	5	EFO	disease	Disorder of iron metabolism and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309842	"" []	4397686	\N	\N	EFO	6	EFO	disposition	Disorder of iron metabolism and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309842	"" []	5415117	\N	\N	EFO	7	EFO	material property	Disorder of iron metabolism and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309842	"" []	6151159	\N	\N	EFO	8	EFO	experimental factor	Disorder of iron metabolism and transport
Orphanet:309845	\N	\N	"" []	Orphanet:309845	"" []	76360	\N	\N	EFO	0	EFO	Disorder of zinc metabolism	Disorder of zinc metabolism
Orphanet:309836	Orphanet:309845	\N	"" []	Orphanet:309845	"" []	219279	\N	\N	EFO	1	EFO	Disorder of mineral absorption and transport	Disorder of zinc metabolism
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:309845	"" []	574673	\N	\N	EFO	2	EFO	Disorder of metabolite absorption and transport	Disorder of zinc metabolism
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:309845	"" []	1157495	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of zinc metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309845	"" []	2040607	\N	\N	EFO	4	EFO	genetic disorder	Disorder of zinc metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309845	"" []	2040608	\N	\N	EFO	4	EFO	metabolic disease	Disorder of zinc metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309845	"" []	3190918	\N	\N	EFO	5	EFO	disease	Disorder of zinc metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309845	"" []	3190919	\N	\N	EFO	5	EFO	disease	Disorder of zinc metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309845	"" []	4397687	\N	\N	EFO	6	EFO	disposition	Disorder of zinc metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309845	"" []	5415118	\N	\N	EFO	7	EFO	material property	Disorder of zinc metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309845	"" []	6151160	\N	\N	EFO	8	EFO	experimental factor	Disorder of zinc metabolism
Orphanet:309848	\N	\N	"" []	Orphanet:309848	"" []	76361	\N	\N	EFO	0	EFO	Disorder of magnesium transport	Disorder of magnesium transport
Orphanet:309836	Orphanet:309848	\N	"" []	Orphanet:309848	"" []	219280	\N	\N	EFO	1	EFO	Disorder of mineral absorption and transport	Disorder of magnesium transport
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:309848	"" []	574674	\N	\N	EFO	2	EFO	Disorder of metabolite absorption and transport	Disorder of magnesium transport
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:309848	"" []	1157496	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of magnesium transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309848	"" []	2040609	\N	\N	EFO	4	EFO	genetic disorder	Disorder of magnesium transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309848	"" []	2040610	\N	\N	EFO	4	EFO	metabolic disease	Disorder of magnesium transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309848	"" []	3190920	\N	\N	EFO	5	EFO	disease	Disorder of magnesium transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309848	"" []	3190921	\N	\N	EFO	5	EFO	disease	Disorder of magnesium transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309848	"" []	4397688	\N	\N	EFO	6	EFO	disposition	Disorder of magnesium transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309848	"" []	5415119	\N	\N	EFO	7	EFO	material property	Disorder of magnesium transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309848	"" []	6151161	\N	\N	EFO	8	EFO	experimental factor	Disorder of magnesium transport
Orphanet:309851	\N	\N	"" []	Orphanet:309851	"" []	76362	\N	\N	EFO	0	EFO	Disorder of manganese transport	Disorder of manganese transport
Orphanet:309836	Orphanet:309851	\N	"" []	Orphanet:309851	"" []	219281	\N	\N	EFO	1	EFO	Disorder of mineral absorption and transport	Disorder of manganese transport
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:309851	"" []	574675	\N	\N	EFO	2	EFO	Disorder of metabolite absorption and transport	Disorder of manganese transport
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:309851	"" []	1157497	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of manganese transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309851	"" []	2040611	\N	\N	EFO	4	EFO	genetic disorder	Disorder of manganese transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309851	"" []	2040612	\N	\N	EFO	4	EFO	metabolic disease	Disorder of manganese transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309851	"" []	3190922	\N	\N	EFO	5	EFO	disease	Disorder of manganese transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309851	"" []	3190923	\N	\N	EFO	5	EFO	disease	Disorder of manganese transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309851	"" []	4397689	\N	\N	EFO	6	EFO	disposition	Disorder of manganese transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309851	"" []	5415120	\N	\N	EFO	7	EFO	material property	Disorder of manganese transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309851	"" []	6151162	\N	\N	EFO	8	EFO	experimental factor	Disorder of manganese transport
Orphanet:309854	\N	\N	"" []	Orphanet:309854	"" []	76363	\N	\N	EFO	0	EFO	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Orphanet:101940	Orphanet:309854	\N	"" []	Orphanet:309854	"" []	219282	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Orphanet:307055	Orphanet:309854	\N	"" []	Orphanet:309854	"" []	219283	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Orphanet:309851	Orphanet:309854	\N	"" []	Orphanet:309854	"" []	219284	\N	\N	EFO	1	EFO	Disorder of manganese transport	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:309854	"" []	574676	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:309854	"" []	574677	\N	\N	EFO	2	EFO	neurodegenerative disease	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:309854	"" []	574678	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Orphanet:309836	Orphanet:309851	\N	"" []	Orphanet:309854	"" []	574679	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:309854	"" []	1157498	\N	\N	EFO	3	EFO	digestive system disease	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309854	"" []	1157499	\N	\N	EFO	3	EFO	genetic disorder	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309854	"" []	1157500	\N	\N	EFO	3	EFO	nervous system disease	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:309854	"" []	1157501	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:309854	"" []	1157502	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309854	"" []	2040613	\N	\N	EFO	4	EFO	disease	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309854	"" []	4397692	\N	\N	EFO	6	EFO	disease	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309854	"" []	4397691	\N	\N	EFO	6	EFO	disease	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:309854	"" []	2040616	\N	\N	EFO	4	EFO	movement disorder	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:309854	"" []	2040617	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:309854	"" []	2040618	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:309854	"" []	5059969	\N	\N	EFO	7	EFO	disposition	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:309854	"" []	3190925	\N	\N	EFO	5	EFO	nervous system disease	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309854	"" []	3190926	\N	\N	EFO	5	EFO	genetic disorder	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:309854	"" []	3190927	\N	\N	EFO	5	EFO	genetic disorder	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:309854	"" []	3190928	\N	\N	EFO	5	EFO	metabolic disease	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:309854	"" []	5877306	\N	\N	EFO	8	EFO	material property	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:309854	"" []	4397693	\N	\N	EFO	6	EFO	disease	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:309854	"" []	6470542	\N	\N	EFO	9	EFO	experimental factor	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Orphanet:31	\N	\N	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	76364	\N	\N	EFO	0	EFO	Oxoglutaricaciduria	Oxoglutaricaciduria
Orphanet:225703	Orphanet:31	\N	"" []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	219285	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	Oxoglutaricaciduria
Orphanet:254749	Orphanet:31	\N	"" []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	219286	\N	\N	EFO	1	EFO	Tricarboxylic acid cycle disorder	Oxoglutaricaciduria
Orphanet:68385	Orphanet:31	\N	"" []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	219287	\N	\N	EFO	1	EFO	Neurometabolic disease	Oxoglutaricaciduria
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	574680	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Oxoglutaricaciduria
Orphanet:79200	Orphanet:254749	\N	"" []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	574681	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Oxoglutaricaciduria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	574682	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Oxoglutaricaciduria
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	1157503	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Oxoglutaricaciduria
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	1157504	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Oxoglutaricaciduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	4397694	\N	\N	EFO	6	EFO	genetic disorder	Oxoglutaricaciduria
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	2040619	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Oxoglutaricaciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	2040620	\N	\N	EFO	4	EFO	genetic disorder	Oxoglutaricaciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	2040621	\N	\N	EFO	4	EFO	metabolic disease	Oxoglutaricaciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	5028438	\N	\N	EFO	7	EFO	disease	Oxoglutaricaciduria
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	3190929	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Oxoglutaricaciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	3190931	\N	\N	EFO	5	EFO	disease	Oxoglutaricaciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	5817698	\N	\N	EFO	8	EFO	disposition	Oxoglutaricaciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	6410131	\N	\N	EFO	9	EFO	material property	Oxoglutaricaciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:31	"Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." []	6807966	\N	\N	EFO	10	EFO	experimental factor	Oxoglutaricaciduria
Orphanet:3101	\N	\N	"" []	Orphanet:3101	"" []	76365	\N	\N	EFO	0	EFO	Richieri Costa-da Silva syndrome	Richieri Costa-da Silva syndrome
Orphanet:253	Orphanet:3101	\N	"" []	Orphanet:3101	"" []	219288	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Richieri Costa-da Silva syndrome
Orphanet:330206	Orphanet:3101	\N	"" []	Orphanet:3101	"" []	219289	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Richieri Costa-da Silva syndrome
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:3101	"" []	574683	\N	\N	EFO	2	EFO	Primary bone dysplasia	Richieri Costa-da Silva syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3101	"" []	574684	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Richieri Costa-da Silva syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3101	"" []	1157506	\N	\N	EFO	3	EFO	Rare genetic bone disease	Richieri Costa-da Silva syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3101	"" []	1157507	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Richieri Costa-da Silva syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3101	"" []	1157508	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Richieri Costa-da Silva syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3101	"" []	2040623	\N	\N	EFO	4	EFO	genetic disorder	Richieri Costa-da Silva syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3101	"" []	2040624	\N	\N	EFO	4	EFO	bone disease	Richieri Costa-da Silva syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3101	"" []	2040625	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Richieri Costa-da Silva syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3101	"" []	3190935	\N	\N	EFO	5	EFO	genetic disorder	Richieri Costa-da Silva syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3101	"" []	4133852	\N	\N	EFO	6	EFO	disease	Richieri Costa-da Silva syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3101	"" []	3190934	\N	\N	EFO	5	EFO	skeletal system disease	Richieri Costa-da Silva syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3101	"" []	5182600	\N	\N	EFO	7	EFO	disposition	Richieri Costa-da Silva syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3101	"" []	4397697	\N	\N	EFO	6	EFO	disease	Richieri Costa-da Silva syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3101	"" []	5997973	\N	\N	EFO	8	EFO	material property	Richieri Costa-da Silva syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3101	"" []	6551293	\N	\N	EFO	9	EFO	experimental factor	Richieri Costa-da Silva syndrome
Orphanet:3102	\N	\N	"" []	Orphanet:3102	"" []	76366	\N	\N	EFO	0	EFO	Richieri Costa-Pereira syndrome	Richieri Costa-Pereira syndrome
Orphanet:139039	Orphanet:3102	\N	"" []	Orphanet:3102	"" []	219290	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Richieri Costa-Pereira syndrome
Orphanet:330206	Orphanet:3102	\N	"" []	Orphanet:3102	"" []	219291	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Richieri Costa-Pereira syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3102	"" []	574685	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Richieri Costa-Pereira syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3102	"" []	574686	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Richieri Costa-Pereira syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3102	"" []	1157509	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Richieri Costa-Pereira syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3102	"" []	1157510	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Richieri Costa-Pereira syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3102	"" []	2040627	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Richieri Costa-Pereira syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3102	"" []	4397698	\N	\N	EFO	6	EFO	genetic disorder	Richieri Costa-Pereira syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3102	"" []	3190936	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Richieri Costa-Pereira syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3102	"" []	5059970	\N	\N	EFO	7	EFO	disease	Richieri Costa-Pereira syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3102	"" []	5877307	\N	\N	EFO	8	EFO	disposition	Richieri Costa-Pereira syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3102	"" []	6470543	\N	\N	EFO	9	EFO	material property	Richieri Costa-Pereira syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3102	"" []	6848596	\N	\N	EFO	10	EFO	experimental factor	Richieri Costa-Pereira syndrome
Orphanet:3103	\N	\N	"" []	Orphanet:3103	"" []	76367	\N	\N	EFO	0	EFO	Roberts syndrome	Roberts syndrome
Orphanet:139039	Orphanet:3103	\N	"" []	Orphanet:3103	"" []	219292	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Roberts syndrome
Orphanet:404574	Orphanet:3103	\N	"" []	Orphanet:3103	"" []	219293	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Roberts syndrome
Orphanet:98648	Orphanet:3103	\N	"" []	Orphanet:3103	"" []	219294	\N	\N	EFO	1	EFO	Musculoskeletal disease with cataract	Roberts syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3103	"" []	574687	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Roberts syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:3103	"" []	574688	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Roberts syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:3103	"" []	574689	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Roberts syndrome
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:3103	"" []	574690	\N	\N	EFO	2	EFO	Systemic disease with cataract	Roberts syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3103	"" []	1157511	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Roberts syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3103	"" []	1157512	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Roberts syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3103	"" []	1157513	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Roberts syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:3103	"" []	1157514	\N	\N	EFO	3	EFO	Syndromic cataract	Roberts syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3103	"" []	2040629	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Roberts syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3103	"" []	2040630	\N	\N	EFO	4	EFO	Rare genetic bone disease	Roberts syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3103	"" []	2040631	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Roberts syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3103	"" []	2040632	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Roberts syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:3103	"" []	2040633	\N	\N	EFO	4	EFO	Rare cataract	Roberts syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3103	"" []	3190938	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Roberts syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3103	"" []	3190939	\N	\N	EFO	5	EFO	genetic disorder	Roberts syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3103	"" []	3190940	\N	\N	EFO	5	EFO	bone disease	Roberts syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3103	"" []	3190941	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Roberts syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3103	"" []	4397700	\N	\N	EFO	6	EFO	genetic disorder	Roberts syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:3103	"" []	3190943	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Roberts syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3103	"" []	6151166	\N	\N	EFO	8	EFO	disease	Roberts syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3103	"" []	4397702	\N	\N	EFO	6	EFO	skeletal system disease	Roberts syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:3103	"" []	4397703	\N	\N	EFO	6	EFO	Rare genetic eye disease	Roberts syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3103	"" []	6470544	\N	\N	EFO	9	EFO	disposition	Roberts syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3103	"" []	5415126	\N	\N	EFO	7	EFO	disease	Roberts syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3103	"" []	5415127	\N	\N	EFO	7	EFO	genetic disorder	Roberts syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3103	"" []	5415128	\N	\N	EFO	7	EFO	eye disease	Roberts syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3103	"" []	6848597	\N	\N	EFO	10	EFO	material property	Roberts syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3103	"" []	6151167	\N	\N	EFO	8	EFO	disease	Roberts syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3103	"" []	7068482	\N	\N	EFO	11	EFO	experimental factor	Roberts syndrome
Orphanet:3104	\N	\N	"" []	Orphanet:3104	"" []	76368	\N	\N	EFO	0	EFO	Robin sequence - oligodactyly	Robin sequence - oligodactyly
Orphanet:139039	Orphanet:3104	\N	"" []	Orphanet:3104	"" []	219295	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Robin sequence - oligodactyly
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3104	"" []	574691	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Robin sequence - oligodactyly
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3104	"" []	1157515	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Robin sequence - oligodactyly
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3104	"" []	2040634	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Robin sequence - oligodactyly
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3104	"" []	3190944	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Robin sequence - oligodactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3104	"" []	4397704	\N	\N	EFO	6	EFO	genetic disorder	Robin sequence - oligodactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3104	"" []	5415129	\N	\N	EFO	7	EFO	disease	Robin sequence - oligodactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3104	"" []	6151168	\N	\N	EFO	8	EFO	disposition	Robin sequence - oligodactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3104	"" []	6633535	\N	\N	EFO	9	EFO	material property	Robin sequence - oligodactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3104	"" []	6926029	\N	\N	EFO	10	EFO	experimental factor	Robin sequence - oligodactyly
Orphanet:31043	\N	\N	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	76369	\N	\N	EFO	0	EFO	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Orphanet:306516	Orphanet:31043	\N	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	219296	\N	\N	EFO	1	EFO	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Orphanet:34526	Orphanet:306516	\N	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	574692	\N	\N	EFO	2	EFO	Familial primary hypomagnesemia	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Orphanet:183592	Orphanet:34526	\N	"" []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	1157516	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Orphanet:309848	Orphanet:34526	\N	"" []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	1157517	\N	\N	EFO	3	EFO	Disorder of magnesium transport	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	2040635	\N	\N	EFO	4	EFO	Rare genetic renal disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Orphanet:309836	Orphanet:309848	\N	"" []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	2040636	\N	\N	EFO	4	EFO	Disorder of mineral absorption and transport	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	3190945	\N	\N	EFO	5	EFO	genetic disorder	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	3190946	\N	\N	EFO	5	EFO	Disorder of metabolite absorption and transport	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	6151170	\N	\N	EFO	8	EFO	disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	4397706	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	6470545	\N	\N	EFO	9	EFO	disposition	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	5415131	\N	\N	EFO	7	EFO	genetic disorder	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	5415132	\N	\N	EFO	7	EFO	metabolic disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	6848598	\N	\N	EFO	10	EFO	material property	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	6151171	\N	\N	EFO	8	EFO	disease	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:31043	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." []	7068483	\N	\N	EFO	11	EFO	experimental factor	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Orphanet:3105	\N	\N	"" []	Orphanet:3105	"" []	76370	\N	\N	EFO	0	EFO	Robinow-like syndrome	Robinow-like syndrome
Orphanet:330197	Orphanet:3105	\N	"" []	Orphanet:3105	"" []	219297	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Robinow-like syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:3105	"" []	574693	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Robinow-like syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3105	"" []	1157518	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Robinow-like syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3105	"" []	2040637	\N	\N	EFO	4	EFO	genetic disorder	Robinow-like syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3105	"" []	3190947	\N	\N	EFO	5	EFO	disease	Robinow-like syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3105	"" []	4397707	\N	\N	EFO	6	EFO	disposition	Robinow-like syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3105	"" []	5415133	\N	\N	EFO	7	EFO	material property	Robinow-like syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3105	"" []	6151172	\N	\N	EFO	8	EFO	experimental factor	Robinow-like syndrome
Orphanet:3107	\N	\N	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	76371	\N	\N	EFO	0	EFO	Autosomal dominant Robinow syndrome	Autosomal dominant Robinow syndrome
Orphanet:97360	Orphanet:3107	\N	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	219298	\N	\N	EFO	1	EFO	Robinow syndrome	Autosomal dominant Robinow syndrome
Orphanet:183570	Orphanet:97360	\N	"" []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	574694	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Autosomal dominant Robinow syndrome
Orphanet:330197	Orphanet:97360	\N	"" []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	574695	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Autosomal dominant Robinow syndrome
Orphanet:93438	Orphanet:97360	\N	"" []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	574696	\N	\N	EFO	2	EFO	Mesomelic and rhizo-mesomelic dysplasia	Autosomal dominant Robinow syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	1157519	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant Robinow syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	1157520	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Autosomal dominant Robinow syndrome
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	1157521	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal dominant Robinow syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	4397710	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Robinow syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	2040639	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant Robinow syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	2040640	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal dominant Robinow syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	2040641	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal dominant Robinow syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	5059971	\N	\N	EFO	7	EFO	disease	Autosomal dominant Robinow syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	3190950	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant Robinow syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	3190951	\N	\N	EFO	5	EFO	bone disease	Autosomal dominant Robinow syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	3190952	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant Robinow syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	5877308	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Robinow syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	4397709	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal dominant Robinow syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	6470546	\N	\N	EFO	9	EFO	material property	Autosomal dominant Robinow syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	5415135	\N	\N	EFO	7	EFO	disease	Autosomal dominant Robinow syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3107	"Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." []	6848599	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Robinow syndrome
Orphanet:3109	\N	\N	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	76372	\N	\N	EFO	0	EFO	Mayer-Rokitansky-Kster-Hauser syndrome	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:180068	Orphanet:3109	\N	"" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	219299	\N	\N	EFO	1	EFO	Partial bilateral aplasia of the Mllerian ducts	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:400025	Orphanet:3109	\N	"" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	219300	\N	\N	EFO	1	EFO	Female infertility due to an implantation defect of genetic origin	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:93547	Orphanet:3109	\N	"" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	219301	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:73217	Orphanet:180068	\N	"" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	574697	\N	\N	EFO	2	EFO	Mllerian aplasia	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:400008	Orphanet:400025	\N	"" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	574698	\N	\N	EFO	2	EFO	Rare genetic female infertility	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	574699	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:156622	Orphanet:73217	\N	"" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	1157522	\N	\N	EFO	3	EFO	Genetic urogenital tract malformation	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:183731	Orphanet:73217	\N	"" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	1157523	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	1157524	\N	\N	EFO	3	EFO	Genetic infertility	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	1157525	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	1157526	\N	\N	EFO	3	EFO	Rare genetic renal disease	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	2040642	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	2040643	\N	\N	EFO	4	EFO	genetic disorder	Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	2040644	\N	\N	EFO	4	EFO	reproductive system disease	Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	2040645	\N	\N	EFO	4	EFO	genetic disorder	Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	2040646	\N	\N	EFO	4	EFO	reproductive system disease	Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	2040647	\N	\N	EFO	4	EFO	genetic disorder	Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	2040648	\N	\N	EFO	4	EFO	genetic disorder	Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	3190953	\N	\N	EFO	5	EFO	genetic disorder	Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	4397711	\N	\N	EFO	6	EFO	disease	Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	3190955	\N	\N	EFO	5	EFO	disease	Mayer-Rokitansky-Kster-Hauser syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	5182603	\N	\N	EFO	7	EFO	disposition	Mayer-Rokitansky-Kster-Hauser syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	5997976	\N	\N	EFO	8	EFO	material property	Mayer-Rokitansky-Kster-Hauser syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3109	"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." []	6551296	\N	\N	EFO	9	EFO	experimental factor	Mayer-Rokitansky-Kster-Hauser syndrome
Orphanet:3110	\N	\N	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	76373	\N	\N	EFO	0	EFO	Rombo syndrome	Rombo syndrome
Orphanet:183487	Orphanet:3110	\N	"" []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	219302	\N	\N	EFO	1	EFO	Genetic skin tumor	Rombo syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	574700	\N	\N	EFO	2	EFO	skin neoplasm	Rombo syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	574701	\N	\N	EFO	2	EFO	Rare genetic tumor	Rombo syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	1157527	\N	\N	EFO	3	EFO	neoplasm	Rombo syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	1157528	\N	\N	EFO	3	EFO	skin disease	Rombo syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	1157529	\N	\N	EFO	3	EFO	genetic disorder	Rombo syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	1157530	\N	\N	EFO	3	EFO	neoplasm	Rombo syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	2040649	\N	\N	EFO	4	EFO	disease	Rombo syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	2040650	\N	\N	EFO	4	EFO	disease	Rombo syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	2040651	\N	\N	EFO	4	EFO	disease	Rombo syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	3190956	\N	\N	EFO	5	EFO	disposition	Rombo syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	4397713	\N	\N	EFO	6	EFO	material property	Rombo syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3110	"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." []	5415137	\N	\N	EFO	7	EFO	experimental factor	Rombo syndrome
Orphanet:3111	\N	\N	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	76374	\N	\N	EFO	0	EFO	Rotor syndrome	Rotor syndrome
Orphanet:101940	Orphanet:3111	\N	"" []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	219303	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Rotor syndrome
Orphanet:309816	Orphanet:3111	\N	"" []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	219304	\N	\N	EFO	1	EFO	Disorder of bilirubin metabolism and excretion	Rotor syndrome
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	574702	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Rotor syndrome
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	574703	\N	\N	EFO	2	EFO	Disorder of porphyrin and haem metabolism	Rotor syndrome
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	1157531	\N	\N	EFO	3	EFO	digestive system disease	Rotor syndrome
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	1157532	\N	\N	EFO	3	EFO	genetic disorder	Rotor syndrome
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	1157533	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Rotor syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	2040652	\N	\N	EFO	4	EFO	disease	Rotor syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	3190958	\N	\N	EFO	5	EFO	disease	Rotor syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	2040654	\N	\N	EFO	4	EFO	genetic disorder	Rotor syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	2040655	\N	\N	EFO	4	EFO	metabolic disease	Rotor syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	4133854	\N	\N	EFO	6	EFO	disposition	Rotor syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	3190959	\N	\N	EFO	5	EFO	disease	Rotor syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	5182604	\N	\N	EFO	7	EFO	material property	Rotor syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3111	"Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." []	5997977	\N	\N	EFO	8	EFO	experimental factor	Rotor syndrome
Orphanet:31112	\N	\N	"" []	Orphanet:31112	"" []	76375	\N	\N	EFO	0	EFO	Dermatofibrosarcoma protuberans	Dermatofibrosarcoma protuberans
EFO:0000691	Orphanet:31112	\N	"Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue." []	Orphanet:31112	"" []	219305	\N	\N	EFO	1	EFO	sarcoma	Dermatofibrosarcoma protuberans
Orphanet:183487	Orphanet:31112	\N	"" []	Orphanet:31112	"" []	219306	\N	\N	EFO	1	EFO	Genetic skin tumor	Dermatofibrosarcoma protuberans
Orphanet:271832	Orphanet:31112	\N	"" []	Orphanet:31112	"" []	219307	\N	\N	EFO	1	EFO	Genetic soft tissue tumor	Dermatofibrosarcoma protuberans
EFO:0000311	EFO:0000691	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	Orphanet:31112	"" []	574704	\N	\N	EFO	2	EFO	cancer	Dermatofibrosarcoma protuberans
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:31112	"" []	574705	\N	\N	EFO	2	EFO	skin neoplasm	Dermatofibrosarcoma protuberans
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:31112	"" []	574706	\N	\N	EFO	2	EFO	Rare genetic tumor	Dermatofibrosarcoma protuberans
Orphanet:68336	Orphanet:271832	\N	"" []	Orphanet:31112	"" []	574707	\N	\N	EFO	2	EFO	Rare genetic tumor	Dermatofibrosarcoma protuberans
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:31112	"" []	1157534	\N	\N	EFO	3	EFO	neoplasm	Dermatofibrosarcoma protuberans
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:31112	"" []	1157535	\N	\N	EFO	3	EFO	neoplasm	Dermatofibrosarcoma protuberans
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:31112	"" []	1157536	\N	\N	EFO	3	EFO	skin disease	Dermatofibrosarcoma protuberans
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31112	"" []	1157537	\N	\N	EFO	3	EFO	genetic disorder	Dermatofibrosarcoma protuberans
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:31112	"" []	1157538	\N	\N	EFO	3	EFO	neoplasm	Dermatofibrosarcoma protuberans
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31112	"" []	2040656	\N	\N	EFO	4	EFO	disease	Dermatofibrosarcoma protuberans
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31112	"" []	2040657	\N	\N	EFO	4	EFO	disease	Dermatofibrosarcoma protuberans
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31112	"" []	2040658	\N	\N	EFO	4	EFO	disease	Dermatofibrosarcoma protuberans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:31112	"" []	3190960	\N	\N	EFO	5	EFO	disposition	Dermatofibrosarcoma protuberans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:31112	"" []	4397715	\N	\N	EFO	6	EFO	material property	Dermatofibrosarcoma protuberans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:31112	"" []	5415139	\N	\N	EFO	7	EFO	experimental factor	Dermatofibrosarcoma protuberans
Orphanet:3115	\N	\N	"" []	Orphanet:3115	"" []	76376	\N	\N	EFO	0	EFO	Roussy-Lvy syndrome	Roussy-Lvy syndrome
Orphanet:140453	Orphanet:3115	\N	"" []	Orphanet:3115	"" []	219308	\N	\N	EFO	1	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Roussy-Lvy syndrome
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:3115	"" []	574708	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Roussy-Lvy syndrome
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:3115	"" []	1157539	\N	\N	EFO	3	EFO	motor neuron disease	Roussy-Lvy syndrome
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:3115	"" []	1157540	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Roussy-Lvy syndrome
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:3115	"" []	2040659	\N	\N	EFO	4	EFO	neurodegenerative disease	Roussy-Lvy syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:3115	"" []	2040660	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Roussy-Lvy syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3115	"" []	3190961	\N	\N	EFO	5	EFO	nervous system disease	Roussy-Lvy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3115	"" []	3190962	\N	\N	EFO	5	EFO	genetic disorder	Roussy-Lvy syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3115	"" []	4397716	\N	\N	EFO	6	EFO	disease	Roussy-Lvy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3115	"" []	4397717	\N	\N	EFO	6	EFO	disease	Roussy-Lvy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3115	"" []	5415140	\N	\N	EFO	7	EFO	disposition	Roussy-Lvy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3115	"" []	6151175	\N	\N	EFO	8	EFO	material property	Roussy-Lvy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3115	"" []	6633537	\N	\N	EFO	9	EFO	experimental factor	Roussy-Lvy syndrome
Orphanet:31150	\N	\N	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	76377	\N	\N	EFO	0	EFO	Tangier disease	Tangier disease
Orphanet:207018	Orphanet:31150	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	219309	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Tangier disease
Orphanet:207021	Orphanet:31150	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	219310	\N	\N	EFO	1	EFO	Rare hereditary systemic disease with peripheral neuropathy	Tangier disease
Orphanet:31153	Orphanet:31150	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	219311	\N	\N	EFO	1	EFO	Hypoalphalipoproteinemia	Tangier disease
Orphanet:68385	Orphanet:31150	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	219312	\N	\N	EFO	1	EFO	Neurometabolic disease	Tangier disease
Orphanet:98711	Orphanet:31150	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	219313	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Tangier disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	574709	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Tangier disease
Orphanet:207015	Orphanet:207021	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	574710	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Tangier disease
Orphanet:181431	Orphanet:31153	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	574711	\N	\N	EFO	2	EFO	Rare hypolipidemia	Tangier disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	574712	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Tangier disease
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	574713	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Tangier disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	1157541	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Tangier disease
Orphanet:101953	Orphanet:181431	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	1157542	\N	\N	EFO	3	EFO	Rare dyslipidemia	Tangier disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	3190963	\N	\N	EFO	5	EFO	genetic disorder	Tangier disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	1157544	\N	\N	EFO	3	EFO	Rare genetic eye disease	Tangier disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	2040661	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Tangier disease
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	2040662	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Tangier disease
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	2040663	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Tangier disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	5415141	\N	\N	EFO	7	EFO	disease	Tangier disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	2040665	\N	\N	EFO	4	EFO	genetic disorder	Tangier disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	2040666	\N	\N	EFO	4	EFO	eye disease	Tangier disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	3190964	\N	\N	EFO	5	EFO	genetic disorder	Tangier disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	3190965	\N	\N	EFO	5	EFO	endocrine system disease	Tangier disease
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	3190966	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Tangier disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	5817699	\N	\N	EFO	8	EFO	disposition	Tangier disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	3190969	\N	\N	EFO	5	EFO	disease	Tangier disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	4397718	\N	\N	EFO	6	EFO	disease	Tangier disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	4397719	\N	\N	EFO	6	EFO	genetic disorder	Tangier disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	4397720	\N	\N	EFO	6	EFO	metabolic disease	Tangier disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	6410132	\N	\N	EFO	9	EFO	material property	Tangier disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	5415142	\N	\N	EFO	7	EFO	disease	Tangier disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:31150	"Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." []	6807967	\N	\N	EFO	10	EFO	experimental factor	Tangier disease
Orphanet:31153	\N	\N	"" []	Orphanet:31153	"" []	76378	\N	\N	EFO	0	EFO	Hypoalphalipoproteinemia	Hypoalphalipoproteinemia
Orphanet:181431	Orphanet:31153	\N	"" []	Orphanet:31153	"" []	219314	\N	\N	EFO	1	EFO	Rare hypolipidemia	Hypoalphalipoproteinemia
Orphanet:101953	Orphanet:181431	\N	"" []	Orphanet:31153	"" []	574714	\N	\N	EFO	2	EFO	Rare dyslipidemia	Hypoalphalipoproteinemia
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:31153	"" []	1157545	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Hypoalphalipoproteinemia
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:31153	"" []	1157546	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Hypoalphalipoproteinemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31153	"" []	2040667	\N	\N	EFO	4	EFO	genetic disorder	Hypoalphalipoproteinemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:31153	"" []	2040668	\N	\N	EFO	4	EFO	endocrine system disease	Hypoalphalipoproteinemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:31153	"" []	2040669	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hypoalphalipoproteinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31153	"" []	4397723	\N	\N	EFO	6	EFO	disease	Hypoalphalipoproteinemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31153	"" []	3190971	\N	\N	EFO	5	EFO	disease	Hypoalphalipoproteinemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31153	"" []	3190972	\N	\N	EFO	5	EFO	genetic disorder	Hypoalphalipoproteinemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:31153	"" []	3190973	\N	\N	EFO	5	EFO	metabolic disease	Hypoalphalipoproteinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:31153	"" []	5182606	\N	\N	EFO	7	EFO	disposition	Hypoalphalipoproteinemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31153	"" []	4397724	\N	\N	EFO	6	EFO	disease	Hypoalphalipoproteinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:31153	"" []	5997979	\N	\N	EFO	8	EFO	material property	Hypoalphalipoproteinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:31153	"" []	6551297	\N	\N	EFO	9	EFO	experimental factor	Hypoalphalipoproteinemia
Orphanet:31154	\N	\N	"" []	Orphanet:31154	"" []	76379	\N	\N	EFO	0	EFO	Hypobetalipoproteinemia	Hypobetalipoproteinemia
Orphanet:181431	Orphanet:31154	\N	"" []	Orphanet:31154	"" []	219315	\N	\N	EFO	1	EFO	Rare hypolipidemia	Hypobetalipoproteinemia
Orphanet:101953	Orphanet:181431	\N	"" []	Orphanet:31154	"" []	574715	\N	\N	EFO	2	EFO	Rare dyslipidemia	Hypobetalipoproteinemia
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:31154	"" []	1157547	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Hypobetalipoproteinemia
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:31154	"" []	1157548	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Hypobetalipoproteinemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31154	"" []	2040670	\N	\N	EFO	4	EFO	genetic disorder	Hypobetalipoproteinemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:31154	"" []	2040671	\N	\N	EFO	4	EFO	endocrine system disease	Hypobetalipoproteinemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:31154	"" []	2040672	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hypobetalipoproteinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31154	"" []	4397726	\N	\N	EFO	6	EFO	disease	Hypobetalipoproteinemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31154	"" []	3190975	\N	\N	EFO	5	EFO	disease	Hypobetalipoproteinemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31154	"" []	3190976	\N	\N	EFO	5	EFO	genetic disorder	Hypobetalipoproteinemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:31154	"" []	3190977	\N	\N	EFO	5	EFO	metabolic disease	Hypobetalipoproteinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:31154	"" []	5182607	\N	\N	EFO	7	EFO	disposition	Hypobetalipoproteinemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31154	"" []	4397727	\N	\N	EFO	6	EFO	disease	Hypobetalipoproteinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:31154	"" []	5997980	\N	\N	EFO	8	EFO	material property	Hypobetalipoproteinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:31154	"" []	6551298	\N	\N	EFO	9	EFO	experimental factor	Hypobetalipoproteinemia
Orphanet:312	\N	\N	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	76380	\N	\N	EFO	0	EFO	Epidermolytic ichthyosis	Epidermolytic ichthyosis
Orphanet:281103	Orphanet:312	\N	"" []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	219316	\N	\N	EFO	1	EFO	Keratinopathic ichthyosis	Epidermolytic ichthyosis
Orphanet:281082	Orphanet:281103	\N	"" []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	574716	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Epidermolytic ichthyosis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	1157549	\N	\N	EFO	3	EFO	Inherited ichthyosis	Epidermolytic ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	2040673	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Epidermolytic ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	3190978	\N	\N	EFO	5	EFO	Rare genetic skin disease	Epidermolytic ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	4397728	\N	\N	EFO	6	EFO	genetic disorder	Epidermolytic ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	4397729	\N	\N	EFO	6	EFO	skin disease	Epidermolytic ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	5415146	\N	\N	EFO	7	EFO	disease	Epidermolytic ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	5415147	\N	\N	EFO	7	EFO	disease	Epidermolytic ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	6151178	\N	\N	EFO	8	EFO	disposition	Epidermolytic ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	6633538	\N	\N	EFO	9	EFO	material property	Epidermolytic ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:312	"Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." []	6926030	\N	\N	EFO	10	EFO	experimental factor	Epidermolytic ichthyosis
Orphanet:3121	\N	\N	"" []	Orphanet:3121	"" []	76381	\N	\N	EFO	0	EFO	Ruvalcaba syndrome	Ruvalcaba syndrome
Orphanet:102283	Orphanet:3121	\N	"" []	Orphanet:3121	"" []	219317	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Ruvalcaba syndrome
Orphanet:98464	Orphanet:3121	\N	"" []	Orphanet:3121	"" []	219318	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Ruvalcaba syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3121	"" []	574717	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ruvalcaba syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3121	"" []	574718	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Ruvalcaba syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3121	"" []	1157550	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ruvalcaba syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3121	"" []	1157551	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Ruvalcaba syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3121	"" []	2040674	\N	\N	EFO	4	EFO	genetic disorder	Ruvalcaba syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3121	"" []	2040675	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Ruvalcaba syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3121	"" []	4397731	\N	\N	EFO	6	EFO	disease	Ruvalcaba syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3121	"" []	3190980	\N	\N	EFO	5	EFO	genetic disorder	Ruvalcaba syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3121	"" []	5182608	\N	\N	EFO	7	EFO	disposition	Ruvalcaba syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3121	"" []	5997981	\N	\N	EFO	8	EFO	material property	Ruvalcaba syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3121	"" []	6551299	\N	\N	EFO	9	EFO	experimental factor	Ruvalcaba syndrome
Orphanet:3124	\N	\N	"" []	Orphanet:3124	"" []	76382	\N	\N	EFO	0	EFO	Saccharopinuria	Saccharopinuria
Orphanet:289832	Orphanet:3124	\N	"" []	Orphanet:3124	"" []	219319	\N	\N	EFO	1	EFO	Disorder of lysine and hydroxylysine metabolism	Saccharopinuria
Orphanet:79062	Orphanet:289832	\N	"" []	Orphanet:3124	"" []	574719	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Saccharopinuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:3124	"" []	1157552	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Saccharopinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3124	"" []	2040676	\N	\N	EFO	4	EFO	genetic disorder	Saccharopinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3124	"" []	2040677	\N	\N	EFO	4	EFO	metabolic disease	Saccharopinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3124	"" []	3190981	\N	\N	EFO	5	EFO	disease	Saccharopinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3124	"" []	3190982	\N	\N	EFO	5	EFO	disease	Saccharopinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3124	"" []	4397732	\N	\N	EFO	6	EFO	disposition	Saccharopinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3124	"" []	5415149	\N	\N	EFO	7	EFO	material property	Saccharopinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3124	"" []	6151180	\N	\N	EFO	8	EFO	experimental factor	Saccharopinuria
Orphanet:3128	\N	\N	"" []	Orphanet:3128	"" []	76383	\N	\N	EFO	0	EFO	Sakati-Nyhan syndrome	Sakati-Nyhan syndrome
Orphanet:139393	Orphanet:3128	\N	"" []	Orphanet:3128	"" []	219320	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Sakati-Nyhan syndrome
Orphanet:330197	Orphanet:3128	\N	"" []	Orphanet:3128	"" []	219321	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Sakati-Nyhan syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:3128	"" []	574720	\N	\N	EFO	2	EFO	Craniosynostosis	Sakati-Nyhan syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:3128	"" []	574721	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Sakati-Nyhan syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:3128	"" []	1157553	\N	\N	EFO	3	EFO	Genetic cranial malformation	Sakati-Nyhan syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:3128	"" []	1157554	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Sakati-Nyhan syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3128	"" []	1157555	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Sakati-Nyhan syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:3128	"" []	2040678	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sakati-Nyhan syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3128	"" []	2040679	\N	\N	EFO	4	EFO	Rare genetic bone disease	Sakati-Nyhan syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3128	"" []	2040680	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Sakati-Nyhan syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3128	"" []	4397734	\N	\N	EFO	6	EFO	genetic disorder	Sakati-Nyhan syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3128	"" []	3190984	\N	\N	EFO	5	EFO	genetic disorder	Sakati-Nyhan syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3128	"" []	3190985	\N	\N	EFO	5	EFO	bone disease	Sakati-Nyhan syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3128	"" []	3190986	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Sakati-Nyhan syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3128	"" []	5059973	\N	\N	EFO	7	EFO	disease	Sakati-Nyhan syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3128	"" []	4397733	\N	\N	EFO	6	EFO	skeletal system disease	Sakati-Nyhan syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3128	"" []	5877310	\N	\N	EFO	8	EFO	disposition	Sakati-Nyhan syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3128	"" []	5415150	\N	\N	EFO	7	EFO	disease	Sakati-Nyhan syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3128	"" []	6470548	\N	\N	EFO	9	EFO	material property	Sakati-Nyhan syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3128	"" []	6848600	\N	\N	EFO	10	EFO	experimental factor	Sakati-Nyhan syndrome
Orphanet:3129	\N	\N	"" []	Orphanet:3129	"" []	76384	\N	\N	EFO	0	EFO	Sarcosinemia	Sarcosinemia
Orphanet:79194	Orphanet:3129	\N	"" []	Orphanet:3129	"" []	219322	\N	\N	EFO	1	EFO	Disorder of serine or glycine metabolism	Sarcosinemia
Orphanet:79062	Orphanet:79194	\N	"" []	Orphanet:3129	"" []	574722	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Sarcosinemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:3129	"" []	1157556	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Sarcosinemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3129	"" []	2040682	\N	\N	EFO	4	EFO	genetic disorder	Sarcosinemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3129	"" []	2040683	\N	\N	EFO	4	EFO	metabolic disease	Sarcosinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3129	"" []	3190988	\N	\N	EFO	5	EFO	disease	Sarcosinemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3129	"" []	3190989	\N	\N	EFO	5	EFO	disease	Sarcosinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3129	"" []	4397736	\N	\N	EFO	6	EFO	disposition	Sarcosinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3129	"" []	5415152	\N	\N	EFO	7	EFO	material property	Sarcosinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3129	"" []	6151182	\N	\N	EFO	8	EFO	experimental factor	Sarcosinemia
Orphanet:313	\N	\N	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	76385	\N	\N	EFO	0	EFO	Lamellar ichthyosis	Lamellar ichthyosis
Orphanet:281097	Orphanet:313	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	219323	\N	\N	EFO	1	EFO	Autosomal recessive congenital ichthyosis	Lamellar ichthyosis
Orphanet:98571	Orphanet:313	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	219324	\N	\N	EFO	1	EFO	Secondary ectropion	Lamellar ichthyosis
Orphanet:98698	Orphanet:313	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	219325	\N	\N	EFO	1	EFO	Ichthyosis associated with ocular features	Lamellar ichthyosis
Orphanet:281082	Orphanet:281097	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	574723	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Lamellar ichthyosis
Orphanet:98567	Orphanet:98571	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	574724	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Lamellar ichthyosis
Orphanet:98697	Orphanet:98698	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	574725	\N	\N	EFO	2	EFO	Genetic keratinization disorder associated with ocular features	Lamellar ichthyosis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	1157557	\N	\N	EFO	3	EFO	Inherited ichthyosis	Lamellar ichthyosis
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	1157558	\N	\N	EFO	3	EFO	Rare palpebral disease	Lamellar ichthyosis
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	1157559	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Lamellar ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	2040684	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Lamellar ichthyosis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	2040685	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Lamellar ichthyosis
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	2040686	\N	\N	EFO	4	EFO	Rare genetic eye disease	Lamellar ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	3190990	\N	\N	EFO	5	EFO	Rare genetic skin disease	Lamellar ichthyosis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	3190991	\N	\N	EFO	5	EFO	Rare genetic eye disease	Lamellar ichthyosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	4397739	\N	\N	EFO	6	EFO	genetic disorder	Lamellar ichthyosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	4397740	\N	\N	EFO	6	EFO	eye disease	Lamellar ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	4397737	\N	\N	EFO	6	EFO	genetic disorder	Lamellar ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	4397738	\N	\N	EFO	6	EFO	skin disease	Lamellar ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	5182610	\N	\N	EFO	7	EFO	disease	Lamellar ichthyosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	5182611	\N	\N	EFO	7	EFO	disease	Lamellar ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	5415153	\N	\N	EFO	7	EFO	disease	Lamellar ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	5997983	\N	\N	EFO	8	EFO	disposition	Lamellar ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	6551301	\N	\N	EFO	9	EFO	material property	Lamellar ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313	"Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." []	6889388	\N	\N	EFO	10	EFO	experimental factor	Lamellar ichthyosis
Orphanet:3132	\N	\N	"" []	Orphanet:3132	"" []	76386	\N	\N	EFO	0	EFO	Say-Barber-Miller syndrome	Say-Barber-Miller syndrome
Orphanet:102283	Orphanet:3132	\N	"" []	Orphanet:3132	"" []	219326	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Say-Barber-Miller syndrome
Orphanet:183763	Orphanet:3132	\N	"" []	Orphanet:3132	"" []	219327	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Say-Barber-Miller syndrome
Orphanet:331244	Orphanet:3132	\N	"" []	Orphanet:3132	"" []	219328	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome with predominantly antibody defects	Say-Barber-Miller syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3132	"" []	574726	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Say-Barber-Miller syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3132	"" []	574727	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Say-Barber-Miller syndrome
Orphanet:101977	Orphanet:331244	\N	"" []	Orphanet:3132	"" []	574728	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Say-Barber-Miller syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3132	"" []	1157560	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Say-Barber-Miller syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3132	"" []	1157561	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Say-Barber-Miller syndrome
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:3132	"" []	1157562	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Say-Barber-Miller syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3132	"" []	2040687	\N	\N	EFO	4	EFO	genetic disorder	Say-Barber-Miller syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3132	"" []	2040688	\N	\N	EFO	4	EFO	genetic disorder	Say-Barber-Miller syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:3132	"" []	2040689	\N	\N	EFO	4	EFO	Primary immunodeficiency	Say-Barber-Miller syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3132	"" []	5415156	\N	\N	EFO	7	EFO	disease	Say-Barber-Miller syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:3132	"" []	3190995	\N	\N	EFO	5	EFO	Rare genetic immune disease	Say-Barber-Miller syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3132	"" []	5877311	\N	\N	EFO	8	EFO	disposition	Say-Barber-Miller syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3132	"" []	4397744	\N	\N	EFO	6	EFO	genetic disorder	Say-Barber-Miller syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:3132	"" []	4397745	\N	\N	EFO	6	EFO	immune system disease	Say-Barber-Miller syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3132	"" []	6470549	\N	\N	EFO	9	EFO	material property	Say-Barber-Miller syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3132	"" []	5415157	\N	\N	EFO	7	EFO	disease	Say-Barber-Miller syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3132	"" []	6848601	\N	\N	EFO	10	EFO	experimental factor	Say-Barber-Miller syndrome
Orphanet:3133	\N	\N	"" []	Orphanet:3133	"" []	76387	\N	\N	EFO	0	EFO	Say-Field-Coldwell syndrome	Say-Field-Coldwell syndrome
Orphanet:294959	Orphanet:3133	\N	"" []	Orphanet:3133	"" []	219329	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Say-Field-Coldwell syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:3133	"" []	574729	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Say-Field-Coldwell syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:3133	"" []	574730	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Say-Field-Coldwell syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3133	"" []	1157563	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Say-Field-Coldwell syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3133	"" []	1157564	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Say-Field-Coldwell syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3133	"" []	2040690	\N	\N	EFO	4	EFO	Rare genetic bone disease	Say-Field-Coldwell syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3133	"" []	2040691	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Say-Field-Coldwell syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3133	"" []	2040692	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Say-Field-Coldwell syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3133	"" []	3190996	\N	\N	EFO	5	EFO	genetic disorder	Say-Field-Coldwell syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3133	"" []	3190997	\N	\N	EFO	5	EFO	bone disease	Say-Field-Coldwell syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3133	"" []	3190998	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Say-Field-Coldwell syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3133	"" []	4397748	\N	\N	EFO	6	EFO	genetic disorder	Say-Field-Coldwell syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3133	"" []	5182612	\N	\N	EFO	7	EFO	disease	Say-Field-Coldwell syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3133	"" []	4397747	\N	\N	EFO	6	EFO	skeletal system disease	Say-Field-Coldwell syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3133	"" []	5997984	\N	\N	EFO	8	EFO	disposition	Say-Field-Coldwell syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3133	"" []	5415159	\N	\N	EFO	7	EFO	disease	Say-Field-Coldwell syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3133	"" []	6551302	\N	\N	EFO	9	EFO	material property	Say-Field-Coldwell syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3133	"" []	6889389	\N	\N	EFO	10	EFO	experimental factor	Say-Field-Coldwell syndrome
Orphanet:3134	\N	\N	"" []	Orphanet:3134	"" []	76388	\N	\N	EFO	0	EFO	SCARF syndrome	SCARF syndrome
Orphanet:102283	Orphanet:3134	\N	"" []	Orphanet:3134	"" []	219330	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	SCARF syndrome
Orphanet:139393	Orphanet:3134	\N	"" []	Orphanet:3134	"" []	219331	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	SCARF syndrome
Orphanet:209	Orphanet:3134	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:3134	"" []	219332	\N	\N	EFO	1	EFO	Cutis laxa	SCARF syndrome
Orphanet:98464	Orphanet:3134	\N	"" []	Orphanet:3134	"" []	219333	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	SCARF syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3134	"" []	574731	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	SCARF syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:3134	"" []	574732	\N	\N	EFO	2	EFO	Craniosynostosis	SCARF syndrome
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:3134	"" []	574733	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	SCARF syndrome
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:3134	"" []	574734	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	SCARF syndrome
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:3134	"" []	574735	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	SCARF syndrome
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:3134	"" []	574736	\N	\N	EFO	2	EFO	Congenital entropion	SCARF syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3134	"" []	574737	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	SCARF syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3134	"" []	1157565	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	SCARF syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:3134	"" []	1157566	\N	\N	EFO	3	EFO	Genetic cranial malformation	SCARF syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:3134	"" []	1157567	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	SCARF syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3134	"" []	1157568	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	SCARF syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:3134	"" []	1157569	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	SCARF syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:3134	"" []	1157570	\N	\N	EFO	3	EFO	Genetic dermis disorder	SCARF syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:3134	"" []	1157571	\N	\N	EFO	3	EFO	Eyelids malposition disorder	SCARF syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3134	"" []	1157572	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	SCARF syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3134	"" []	4397751	\N	\N	EFO	6	EFO	genetic disorder	SCARF syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:3134	"" []	2040694	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	SCARF syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3134	"" []	2040695	\N	\N	EFO	4	EFO	Rare genetic bone disease	SCARF syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3134	"" []	2040696	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	SCARF syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:3134	"" []	2040697	\N	\N	EFO	4	EFO	Rare genetic skin disease	SCARF syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:3134	"" []	2040698	\N	\N	EFO	4	EFO	Rare palpebral disease	SCARF syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3134	"" []	2040699	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	SCARF syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3134	"" []	6151187	\N	\N	EFO	8	EFO	disease	SCARF syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3134	"" []	3191002	\N	\N	EFO	5	EFO	genetic disorder	SCARF syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3134	"" []	3191003	\N	\N	EFO	5	EFO	bone disease	SCARF syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3134	"" []	3191004	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	SCARF syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3134	"" []	3191005	\N	\N	EFO	5	EFO	genetic disorder	SCARF syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3134	"" []	3191006	\N	\N	EFO	5	EFO	skin disease	SCARF syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:3134	"" []	3191007	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	SCARF syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3134	"" []	3191008	\N	\N	EFO	5	EFO	genetic disorder	SCARF syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3134	"" []	6410133	\N	\N	EFO	9	EFO	disposition	SCARF syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3134	"" []	4397750	\N	\N	EFO	6	EFO	skeletal system disease	SCARF syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3134	"" []	4397752	\N	\N	EFO	6	EFO	disease	SCARF syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:3134	"" []	4397753	\N	\N	EFO	6	EFO	Rare genetic eye disease	SCARF syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3134	"" []	6807968	\N	\N	EFO	10	EFO	material property	SCARF syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3134	"" []	5415161	\N	\N	EFO	7	EFO	disease	SCARF syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3134	"" []	5415162	\N	\N	EFO	7	EFO	genetic disorder	SCARF syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3134	"" []	5415163	\N	\N	EFO	7	EFO	eye disease	SCARF syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3134	"" []	7048694	\N	\N	EFO	11	EFO	experimental factor	SCARF syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3134	"" []	6151188	\N	\N	EFO	8	EFO	disease	SCARF syndrome
Orphanet:3135	\N	\N	"" []	Orphanet:3135	"" []	76389	\N	\N	EFO	0	EFO	Familial Scheuermann disease	Familial Scheuermann disease
Orphanet:399391	Orphanet:3135	\N	"" []	Orphanet:3135	"" []	219334	\N	\N	EFO	1	EFO	Osteochondrosis of genetic origin	Familial Scheuermann disease
Orphanet:399380	Orphanet:399391	\N	"" []	Orphanet:3135	"" []	574738	\N	\N	EFO	2	EFO	Osteonecrosis of genetic origin	Familial Scheuermann disease
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:3135	"" []	1157573	\N	\N	EFO	3	EFO	Rare genetic bone disease	Familial Scheuermann disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3135	"" []	2040700	\N	\N	EFO	4	EFO	genetic disorder	Familial Scheuermann disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3135	"" []	2040701	\N	\N	EFO	4	EFO	bone disease	Familial Scheuermann disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3135	"" []	3191009	\N	\N	EFO	5	EFO	disease	Familial Scheuermann disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3135	"" []	3191010	\N	\N	EFO	5	EFO	skeletal system disease	Familial Scheuermann disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3135	"" []	5415165	\N	\N	EFO	7	EFO	disposition	Familial Scheuermann disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3135	"" []	4397755	\N	\N	EFO	6	EFO	disease	Familial Scheuermann disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3135	"" []	5997986	\N	\N	EFO	8	EFO	material property	Familial Scheuermann disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3135	"" []	6551304	\N	\N	EFO	9	EFO	experimental factor	Familial Scheuermann disease
Orphanet:3137	\N	\N	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	76390	\N	\N	EFO	0	EFO	Alpha-N-acetylgalactosaminidase deficiency	Alpha-N-acetylgalactosaminidase deficiency
Orphanet:68385	Orphanet:3137	\N	"" []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	219335	\N	\N	EFO	1	EFO	Neurometabolic disease	Alpha-N-acetylgalactosaminidase deficiency
Orphanet:79215	Orphanet:3137	\N	"" []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	219336	\N	\N	EFO	1	EFO	Oligosaccharidosis	Alpha-N-acetylgalactosaminidase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	574739	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Alpha-N-acetylgalactosaminidase deficiency
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	574740	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Alpha-N-acetylgalactosaminidase deficiency
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	574741	\N	\N	EFO	2	EFO	Glycoproteinosis	Alpha-N-acetylgalactosaminidase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	1157574	\N	\N	EFO	3	EFO	genetic disorder	Alpha-N-acetylgalactosaminidase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	1157575	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Alpha-N-acetylgalactosaminidase deficiency
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	1157576	\N	\N	EFO	3	EFO	Lysosomal disease	Alpha-N-acetylgalactosaminidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	4397757	\N	\N	EFO	6	EFO	disease	Alpha-N-acetylgalactosaminidase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	2040703	\N	\N	EFO	4	EFO	genetic disorder	Alpha-N-acetylgalactosaminidase deficiency
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	2040704	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Alpha-N-acetylgalactosaminidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	5059975	\N	\N	EFO	7	EFO	disposition	Alpha-N-acetylgalactosaminidase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	3191013	\N	\N	EFO	5	EFO	genetic disorder	Alpha-N-acetylgalactosaminidase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	3191014	\N	\N	EFO	5	EFO	metabolic disease	Alpha-N-acetylgalactosaminidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	5877313	\N	\N	EFO	8	EFO	material property	Alpha-N-acetylgalactosaminidase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	4397758	\N	\N	EFO	6	EFO	disease	Alpha-N-acetylgalactosaminidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3137	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	6470551	\N	\N	EFO	9	EFO	experimental factor	Alpha-N-acetylgalactosaminidase deficiency
Orphanet:313772	\N	\N	"" []	Orphanet:313772	"" []	76391	\N	\N	EFO	0	EFO	Early-onset spastic ataxia-neuropathy syndrome	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:316240	Orphanet:313772	\N	"" []	Orphanet:313772	"" []	219337	\N	\N	EFO	1	EFO	Autosomal recessive spastic ataxia	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:35698	Orphanet:313772	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:313772	"" []	219338	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:316226	Orphanet:316240	\N	"" []	Orphanet:313772	"" []	574742	\N	\N	EFO	2	EFO	Spastic ataxia	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:313772	"" []	574743	\N	\N	EFO	2	EFO	Metabolic disease with intestinal involvement	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:313772	"" []	574744	\N	\N	EFO	2	EFO	Mitochondrial myopathy	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:313772	"" []	574745	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:313772	"" []	574746	\N	\N	EFO	2	EFO	Mitochondrial disease with eye involvement	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:183518	Orphanet:316226	\N	"" []	Orphanet:313772	"" []	1157577	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:313772	"" []	1157578	\N	\N	EFO	3	EFO	Genetic intestinal disease	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:313772	"" []	1157579	\N	\N	EFO	3	EFO	Muscular lipidosis	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:313772	"" []	1157580	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:313772	"" []	1157581	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:313772	"" []	2040705	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:313772	"" []	2040706	\N	\N	EFO	4	EFO	digestive system disease	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:313772	"" []	2040707	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:313772	"" []	2040708	\N	\N	EFO	4	EFO	Metabolic myopathy	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:313772	"" []	2040709	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:313772	"" []	2040710	\N	\N	EFO	4	EFO	Rare genetic eye disease	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313772	"" []	6633542	\N	\N	EFO	9	EFO	genetic disorder	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313772	"" []	3191016	\N	\N	EFO	5	EFO	disease	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313772	"" []	3191017	\N	\N	EFO	5	EFO	genetic disorder	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:313772	"" []	3191018	\N	\N	EFO	5	EFO	Non-dystrophic myopathy	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:313772	"" []	3191019	\N	\N	EFO	5	EFO	Mitochondrial disease	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313772	"" []	3191020	\N	\N	EFO	5	EFO	genetic disorder	Early-onset spastic ataxia-neuropathy syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:313772	"" []	3191021	\N	\N	EFO	5	EFO	eye disease	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313772	"" []	6778738	\N	\N	EFO	10	EFO	disease	Early-onset spastic ataxia-neuropathy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313772	"" []	7029934	\N	\N	EFO	11	EFO	disposition	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:313772	"" []	4397761	\N	\N	EFO	6	EFO	Genetic skeletal muscle disease	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:313772	"" []	4397762	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:313772	"" []	4397763	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313772	"" []	4397764	\N	\N	EFO	6	EFO	disease	Early-onset spastic ataxia-neuropathy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313772	"" []	7173642	\N	\N	EFO	12	EFO	material property	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:313772	"" []	5415169	\N	\N	EFO	7	EFO	Genetic neuromuscular disease	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:313772	"" []	5415170	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:313772	"" []	5415171	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313772	"" []	7275684	\N	\N	EFO	13	EFO	experimental factor	Early-onset spastic ataxia-neuropathy syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:313772	"" []	6151191	\N	\N	EFO	8	EFO	muscular disease	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:313772	"" []	6151192	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313772	"" []	6151193	\N	\N	EFO	8	EFO	genetic disorder	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313772	"" []	6151194	\N	\N	EFO	8	EFO	genetic disorder	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:313772	"" []	6151195	\N	\N	EFO	8	EFO	metabolic disease	Early-onset spastic ataxia-neuropathy syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:313772	"" []	6633541	\N	\N	EFO	9	EFO	skeletal system disease	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313772	"" []	6633544	\N	\N	EFO	9	EFO	disease	Early-onset spastic ataxia-neuropathy syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313772	"" []	6926031	\N	\N	EFO	10	EFO	disease	Early-onset spastic ataxia-neuropathy syndrome
Orphanet:313781	\N	\N	"" []	Orphanet:313781	"" []	76392	\N	\N	EFO	0	EFO	20p13 microdeletion syndrome	20p13 microdeletion syndrome
Orphanet:102283	Orphanet:313781	\N	"" []	Orphanet:313781	"" []	219339	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	20p13 microdeletion syndrome
Orphanet:261992	Orphanet:313781	\N	"" []	Orphanet:313781	"" []	219340	\N	\N	EFO	1	EFO	Partial monosomy of the short arm of chromosome 20	20p13 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:313781	"" []	574747	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	20p13 microdeletion syndrome
Orphanet:261846	Orphanet:261992	\N	"" []	Orphanet:313781	"" []	574748	\N	\N	EFO	2	EFO	Partial deletion of chromosome 20	20p13 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:313781	"" []	1157582	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	20p13 microdeletion syndrome
Orphanet:98142	Orphanet:261846	\N	"" []	Orphanet:313781	"" []	1157583	\N	\N	EFO	3	EFO	Partial autosomal monosomy	20p13 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313781	"" []	2040711	\N	\N	EFO	4	EFO	genetic disorder	20p13 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:313781	"" []	2040712	\N	\N	EFO	4	EFO	Autosomal monosomy	20p13 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313781	"" []	6151197	\N	\N	EFO	8	EFO	disease	20p13 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:313781	"" []	3191023	\N	\N	EFO	5	EFO	Autosomal anomaly	20p13 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313781	"" []	6410134	\N	\N	EFO	9	EFO	disposition	20p13 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:313781	"" []	4397766	\N	\N	EFO	6	EFO	Chromosomal anomaly	20p13 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313781	"" []	6807970	\N	\N	EFO	10	EFO	material property	20p13 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313781	"" []	5415173	\N	\N	EFO	7	EFO	genetic disorder	20p13 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313781	"" []	7048695	\N	\N	EFO	11	EFO	experimental factor	20p13 microdeletion syndrome
Orphanet:313795	\N	\N	"" []	Orphanet:313795	"" []	76393	\N	\N	EFO	0	EFO	Jawad syndrome	Jawad syndrome
Orphanet:102283	Orphanet:313795	\N	"" []	Orphanet:313795	"" []	219341	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Jawad syndrome
Orphanet:269528	Orphanet:313795	\N	"" []	Orphanet:313795	"" []	219342	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Jawad syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:313795	"" []	574749	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Jawad syndrome
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:313795	"" []	574750	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Jawad syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:313795	"" []	1157584	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Jawad syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:313795	"" []	1157585	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Jawad syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313795	"" []	3191025	\N	\N	EFO	5	EFO	genetic disorder	Jawad syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:313795	"" []	2040714	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Jawad syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:313795	"" []	2040715	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Jawad syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313795	"" []	4133859	\N	\N	EFO	6	EFO	disease	Jawad syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313795	"" []	3191026	\N	\N	EFO	5	EFO	genetic disorder	Jawad syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313795	"" []	5182615	\N	\N	EFO	7	EFO	disposition	Jawad syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313795	"" []	5997989	\N	\N	EFO	8	EFO	material property	Jawad syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313795	"" []	6551306	\N	\N	EFO	9	EFO	experimental factor	Jawad syndrome
Orphanet:3138	\N	\N	"" []	Orphanet:3138	"" []	76394	\N	\N	EFO	0	EFO	Ulnar-mammary syndrome	Ulnar-mammary syndrome
Orphanet:117573	Orphanet:3138	\N	"" []	Orphanet:3138	"" []	219343	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Ulnar-mammary syndrome
Orphanet:240371	Orphanet:3138	\N	"" []	Orphanet:3138	"" []	219344	\N	\N	EFO	1	EFO	Syndromic obesity	Ulnar-mammary syndrome
Orphanet:330197	Orphanet:3138	\N	"" []	Orphanet:3138	"" []	219345	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Ulnar-mammary syndrome
Orphanet:404574	Orphanet:3138	\N	"" []	Orphanet:3138	"" []	219346	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Ulnar-mammary syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:3138	"" []	574751	\N	\N	EFO	2	EFO	Anorectal malformation	Ulnar-mammary syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:3138	"" []	574752	\N	\N	EFO	2	EFO	Genetic obesity	Ulnar-mammary syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:3138	"" []	574753	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ulnar-mammary syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:3138	"" []	574754	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Ulnar-mammary syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:3138	"" []	574755	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Ulnar-mammary syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:3138	"" []	1157586	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Ulnar-mammary syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:3138	"" []	1157587	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Ulnar-mammary syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:3138	"" []	1157588	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Ulnar-mammary syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3138	"" []	1157589	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ulnar-mammary syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3138	"" []	1157590	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Ulnar-mammary syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3138	"" []	1157591	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Ulnar-mammary syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:3138	"" []	2040716	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ulnar-mammary syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3138	"" []	2040717	\N	\N	EFO	4	EFO	genetic disorder	Ulnar-mammary syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3138	"" []	2040718	\N	\N	EFO	4	EFO	endocrine system disease	Ulnar-mammary syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:3138	"" []	2040719	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ulnar-mammary syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3138	"" []	4397770	\N	\N	EFO	6	EFO	genetic disorder	Ulnar-mammary syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3138	"" []	2040721	\N	\N	EFO	4	EFO	Rare genetic bone disease	Ulnar-mammary syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3138	"" []	2040722	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Ulnar-mammary syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3138	"" []	2040723	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ulnar-mammary syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3138	"" []	5059976	\N	\N	EFO	7	EFO	disease	Ulnar-mammary syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3138	"" []	3191029	\N	\N	EFO	5	EFO	disease	Ulnar-mammary syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3138	"" []	3191030	\N	\N	EFO	5	EFO	genetic disorder	Ulnar-mammary syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3138	"" []	3191031	\N	\N	EFO	5	EFO	bone disease	Ulnar-mammary syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3138	"" []	3191032	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ulnar-mammary syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3138	"" []	5877314	\N	\N	EFO	8	EFO	disposition	Ulnar-mammary syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3138	"" []	4397769	\N	\N	EFO	6	EFO	skeletal system disease	Ulnar-mammary syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3138	"" []	6470552	\N	\N	EFO	9	EFO	material property	Ulnar-mammary syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3138	"" []	5415176	\N	\N	EFO	7	EFO	disease	Ulnar-mammary syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3138	"" []	6848603	\N	\N	EFO	10	EFO	experimental factor	Ulnar-mammary syndrome
Orphanet:313800	\N	\N	"" []	Orphanet:313800	"" []	76395	\N	\N	EFO	0	EFO	Optic nerve edema-splenomegaly syndrome	Optic nerve edema-splenomegaly syndrome
Orphanet:98671	Orphanet:313800	\N	"" []	Orphanet:313800	"" []	219347	\N	\N	EFO	1	EFO	Optic neuropathy	Optic nerve edema-splenomegaly syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:313800	"" []	574756	\N	\N	EFO	2	EFO	Rare genetic eye disease	Optic nerve edema-splenomegaly syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313800	"" []	1157592	\N	\N	EFO	3	EFO	genetic disorder	Optic nerve edema-splenomegaly syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:313800	"" []	1157593	\N	\N	EFO	3	EFO	eye disease	Optic nerve edema-splenomegaly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313800	"" []	2040724	\N	\N	EFO	4	EFO	disease	Optic nerve edema-splenomegaly syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313800	"" []	2040725	\N	\N	EFO	4	EFO	disease	Optic nerve edema-splenomegaly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313800	"" []	3191033	\N	\N	EFO	5	EFO	disposition	Optic nerve edema-splenomegaly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313800	"" []	4397771	\N	\N	EFO	6	EFO	material property	Optic nerve edema-splenomegaly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313800	"" []	5415177	\N	\N	EFO	7	EFO	experimental factor	Optic nerve edema-splenomegaly syndrome
Orphanet:313808	\N	\N	"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." []	Orphanet:313808	"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." []	76396	\N	\N	EFO	0	EFO	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Orphanet:68356	Orphanet:313808	\N	"" []	Orphanet:313808	"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." []	219348	\N	\N	EFO	1	EFO	Leukodystrophy	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:313808	"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." []	574757	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313808	"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." []	1157594	\N	\N	EFO	3	EFO	genetic disorder	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313808	"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." []	2040726	\N	\N	EFO	4	EFO	disease	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313808	"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." []	3191034	\N	\N	EFO	5	EFO	disposition	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313808	"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." []	4397772	\N	\N	EFO	6	EFO	material property	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313808	"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." []	5415178	\N	\N	EFO	7	EFO	experimental factor	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Orphanet:313838	\N	\N	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	76397	\N	\N	EFO	0	EFO	Coats plus syndrome	Coats plus syndrome
Orphanet:183503	Orphanet:313838	\N	"" []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	219349	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Coats plus syndrome
Orphanet:98669	Orphanet:313838	\N	"" []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	219350	\N	\N	EFO	1	EFO	Congenital vitreoretinal dysplasia	Coats plus syndrome
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	574758	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Coats plus syndrome
Orphanet:98668	Orphanet:98669	\N	"" []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	574759	\N	\N	EFO	2	EFO	Vitreoretinopathy	Coats plus syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	1157595	\N	\N	EFO	3	EFO	genetic disorder	Coats plus syndrome
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	1157596	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Coats plus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	4397774	\N	\N	EFO	6	EFO	disease	Coats plus syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	2040728	\N	\N	EFO	4	EFO	Rare genetic eye disease	Coats plus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	5059977	\N	\N	EFO	7	EFO	disposition	Coats plus syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	3191036	\N	\N	EFO	5	EFO	genetic disorder	Coats plus syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	3191037	\N	\N	EFO	5	EFO	eye disease	Coats plus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	5877315	\N	\N	EFO	8	EFO	material property	Coats plus syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	4397775	\N	\N	EFO	6	EFO	disease	Coats plus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313838	"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." []	6470553	\N	\N	EFO	9	EFO	experimental factor	Coats plus syndrome
Orphanet:313846	\N	\N	"" []	Orphanet:313846	"" []	76398	\N	\N	EFO	0	EFO	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Orphanet:140162	Orphanet:313846	\N	"" []	Orphanet:313846	"" []	219351	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Orphanet:183478	Orphanet:313846	\N	"" []	Orphanet:313846	"" []	219352	\N	\N	EFO	1	EFO	Genetic skin vascular disorder	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313846	"" []	574760	\N	\N	EFO	2	EFO	genetic disorder	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:313846	"" []	574761	\N	\N	EFO	2	EFO	Genetic dermis disorder	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313846	"" []	3191039	\N	\N	EFO	5	EFO	disease	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:313846	"" []	1157598	\N	\N	EFO	3	EFO	Rare genetic skin disease	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313846	"" []	4066933	\N	\N	EFO	6	EFO	disposition	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313846	"" []	2040730	\N	\N	EFO	4	EFO	genetic disorder	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:313846	"" []	2040731	\N	\N	EFO	4	EFO	skin disease	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313846	"" []	5059978	\N	\N	EFO	7	EFO	material property	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313846	"" []	3191040	\N	\N	EFO	5	EFO	disease	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313846	"" []	5877316	\N	\N	EFO	8	EFO	experimental factor	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Orphanet:313850	\N	\N	"" []	Orphanet:313850	"" []	76399	\N	\N	EFO	0	EFO	Infantile cerebellar-retinal degeneration	Infantile cerebellar-retinal degeneration
Orphanet:183500	Orphanet:313850	\N	"" []	Orphanet:313850	"" []	219353	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Infantile cerebellar-retinal degeneration
Orphanet:254749	Orphanet:313850	\N	"" []	Orphanet:313850	"" []	219354	\N	\N	EFO	1	EFO	Tricarboxylic acid cycle disorder	Infantile cerebellar-retinal degeneration
Orphanet:68385	Orphanet:313850	\N	"" []	Orphanet:313850	"" []	219355	\N	\N	EFO	1	EFO	Neurometabolic disease	Infantile cerebellar-retinal degeneration
Orphanet:71862	Orphanet:313850	\N	"" []	Orphanet:313850	"" []	219356	\N	\N	EFO	1	EFO	Retinal dystrophy	Infantile cerebellar-retinal degeneration
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:313850	"" []	574762	\N	\N	EFO	2	EFO	neurodegenerative disease	Infantile cerebellar-retinal degeneration
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:313850	"" []	574763	\N	\N	EFO	2	EFO	brain disease	Infantile cerebellar-retinal degeneration
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:313850	"" []	574764	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Infantile cerebellar-retinal degeneration
Orphanet:79200	Orphanet:254749	\N	"" []	Orphanet:313850	"" []	574765	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Infantile cerebellar-retinal degeneration
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:313850	"" []	574766	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Infantile cerebellar-retinal degeneration
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:313850	"" []	574767	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Infantile cerebellar-retinal degeneration
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:313850	"" []	1157599	\N	\N	EFO	3	EFO	nervous system disease	Infantile cerebellar-retinal degeneration
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:313850	"" []	1157600	\N	\N	EFO	3	EFO	nervous system disease	Infantile cerebellar-retinal degeneration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313850	"" []	1157601	\N	\N	EFO	3	EFO	genetic disorder	Infantile cerebellar-retinal degeneration
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:313850	"" []	1157602	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Infantile cerebellar-retinal degeneration
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:313850	"" []	1157603	\N	\N	EFO	3	EFO	Rare genetic eye disease	Infantile cerebellar-retinal degeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313850	"" []	2040732	\N	\N	EFO	4	EFO	disease	Infantile cerebellar-retinal degeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313850	"" []	3191042	\N	\N	EFO	5	EFO	disease	Infantile cerebellar-retinal degeneration
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313850	"" []	2040734	\N	\N	EFO	4	EFO	genetic disorder	Infantile cerebellar-retinal degeneration
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:313850	"" []	2040735	\N	\N	EFO	4	EFO	metabolic disease	Infantile cerebellar-retinal degeneration
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313850	"" []	2040736	\N	\N	EFO	4	EFO	genetic disorder	Infantile cerebellar-retinal degeneration
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:313850	"" []	2040737	\N	\N	EFO	4	EFO	eye disease	Infantile cerebellar-retinal degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313850	"" []	4133861	\N	\N	EFO	6	EFO	disposition	Infantile cerebellar-retinal degeneration
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313850	"" []	3191043	\N	\N	EFO	5	EFO	disease	Infantile cerebellar-retinal degeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313850	"" []	3191044	\N	\N	EFO	5	EFO	disease	Infantile cerebellar-retinal degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313850	"" []	5182617	\N	\N	EFO	7	EFO	material property	Infantile cerebellar-retinal degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313850	"" []	5997991	\N	\N	EFO	8	EFO	experimental factor	Infantile cerebellar-retinal degeneration
Orphanet:313855	\N	\N	"" []	Orphanet:313855	"" []	76400	\N	\N	EFO	0	EFO	FGFR2-related bent bone dysplasia	FGFR2-related bent bone dysplasia
Orphanet:93439	Orphanet:313855	\N	"" []	Orphanet:313855	"" []	219357	\N	\N	EFO	1	EFO	Bent bone dysplasia	FGFR2-related bent bone dysplasia
Orphanet:364526	Orphanet:93439	\N	"" []	Orphanet:313855	"" []	574768	\N	\N	EFO	2	EFO	Primary bone dysplasia	FGFR2-related bent bone dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:313855	"" []	1157604	\N	\N	EFO	3	EFO	Rare genetic bone disease	FGFR2-related bent bone dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:313855	"" []	1157605	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	FGFR2-related bent bone dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313855	"" []	2040738	\N	\N	EFO	4	EFO	genetic disorder	FGFR2-related bent bone dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:313855	"" []	2040739	\N	\N	EFO	4	EFO	bone disease	FGFR2-related bent bone dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:313855	"" []	2040740	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	FGFR2-related bent bone dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313855	"" []	4397780	\N	\N	EFO	6	EFO	disease	FGFR2-related bent bone dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:313855	"" []	3191046	\N	\N	EFO	5	EFO	skeletal system disease	FGFR2-related bent bone dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313855	"" []	3191047	\N	\N	EFO	5	EFO	genetic disorder	FGFR2-related bent bone dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313855	"" []	5182618	\N	\N	EFO	7	EFO	disposition	FGFR2-related bent bone dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313855	"" []	4397779	\N	\N	EFO	6	EFO	disease	FGFR2-related bent bone dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313855	"" []	5997992	\N	\N	EFO	8	EFO	material property	FGFR2-related bent bone dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313855	"" []	6551308	\N	\N	EFO	9	EFO	experimental factor	FGFR2-related bent bone dysplasia
Orphanet:313884	\N	\N	"" []	Orphanet:313884	"" []	76401	\N	\N	EFO	0	EFO	12p12.1 microdeletion syndrome	12p12.1 microdeletion syndrome
Orphanet:316244	Orphanet:313884	\N	"" []	Orphanet:313884	"" []	219358	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 12	12p12.1 microdeletion syndrome
Orphanet:282124	Orphanet:316244	\N	"" []	Orphanet:313884	"" []	574769	\N	\N	EFO	2	EFO	Partial deletion of chromosome 12	12p12.1 microdeletion syndrome
Orphanet:98142	Orphanet:282124	\N	"" []	Orphanet:313884	"" []	1157606	\N	\N	EFO	3	EFO	Partial autosomal monosomy	12p12.1 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:313884	"" []	2040741	\N	\N	EFO	4	EFO	Autosomal monosomy	12p12.1 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:313884	"" []	3191048	\N	\N	EFO	5	EFO	Autosomal anomaly	12p12.1 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:313884	"" []	4397781	\N	\N	EFO	6	EFO	Chromosomal anomaly	12p12.1 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313884	"" []	5415182	\N	\N	EFO	7	EFO	genetic disorder	12p12.1 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313884	"" []	6151201	\N	\N	EFO	8	EFO	disease	12p12.1 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313884	"" []	6633545	\N	\N	EFO	9	EFO	disposition	12p12.1 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313884	"" []	6926032	\N	\N	EFO	10	EFO	material property	12p12.1 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313884	"" []	7099246	\N	\N	EFO	11	EFO	experimental factor	12p12.1 microdeletion syndrome
Orphanet:313892	\N	\N	"" []	Orphanet:313892	"" []	76402	\N	\N	EFO	0	EFO	Developmental and speech delay due to SOX5 deficiency	Developmental and speech delay due to SOX5 deficiency
Orphanet:183763	Orphanet:313892	\N	"" []	Orphanet:313892	"" []	219359	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Developmental and speech delay due to SOX5 deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:313892	"" []	574770	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Developmental and speech delay due to SOX5 deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:313892	"" []	1157607	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Developmental and speech delay due to SOX5 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313892	"" []	2040742	\N	\N	EFO	4	EFO	genetic disorder	Developmental and speech delay due to SOX5 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313892	"" []	3191049	\N	\N	EFO	5	EFO	disease	Developmental and speech delay due to SOX5 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313892	"" []	4397782	\N	\N	EFO	6	EFO	disposition	Developmental and speech delay due to SOX5 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313892	"" []	5415183	\N	\N	EFO	7	EFO	material property	Developmental and speech delay due to SOX5 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313892	"" []	6151202	\N	\N	EFO	8	EFO	experimental factor	Developmental and speech delay due to SOX5 deficiency
Orphanet:313936	\N	\N	"" []	Orphanet:313936	"" []	76403	\N	\N	EFO	0	EFO	PENS syndrome	PENS syndrome
Orphanet:183487	Orphanet:313936	\N	"" []	Orphanet:313936	"" []	219360	\N	\N	EFO	1	EFO	Genetic skin tumor	PENS syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:313936	"" []	574771	\N	\N	EFO	2	EFO	skin neoplasm	PENS syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:313936	"" []	574772	\N	\N	EFO	2	EFO	Rare genetic tumor	PENS syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:313936	"" []	1157608	\N	\N	EFO	3	EFO	neoplasm	PENS syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:313936	"" []	1157609	\N	\N	EFO	3	EFO	skin disease	PENS syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313936	"" []	1157610	\N	\N	EFO	3	EFO	genetic disorder	PENS syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:313936	"" []	1157611	\N	\N	EFO	3	EFO	neoplasm	PENS syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313936	"" []	2040743	\N	\N	EFO	4	EFO	disease	PENS syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313936	"" []	2040744	\N	\N	EFO	4	EFO	disease	PENS syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313936	"" []	2040745	\N	\N	EFO	4	EFO	disease	PENS syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313936	"" []	3191050	\N	\N	EFO	5	EFO	disposition	PENS syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313936	"" []	4397783	\N	\N	EFO	6	EFO	material property	PENS syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313936	"" []	5415184	\N	\N	EFO	7	EFO	experimental factor	PENS syndrome
Orphanet:313947	\N	\N	"" []	Orphanet:313947	"" []	76404	\N	\N	EFO	0	EFO	2q23.1 microduplication syndrome	2q23.1 microduplication syndrome
Orphanet:183763	Orphanet:313947	\N	"" []	Orphanet:313947	"" []	219361	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	2q23.1 microduplication syndrome
Orphanet:262842	Orphanet:313947	\N	"" []	Orphanet:313947	"" []	219362	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 2	2q23.1 microduplication syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:313947	"" []	574773	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	2q23.1 microduplication syndrome
Orphanet:262196	Orphanet:262842	\N	"" []	Orphanet:313947	"" []	574774	\N	\N	EFO	2	EFO	Partial duplication of chromosome 2	2q23.1 microduplication syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:313947	"" []	1157612	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	2q23.1 microduplication syndrome
Orphanet:98132	Orphanet:262196	\N	"" []	Orphanet:313947	"" []	1157613	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	2q23.1 microduplication syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313947	"" []	2040746	\N	\N	EFO	4	EFO	genetic disorder	2q23.1 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:313947	"" []	2040747	\N	\N	EFO	4	EFO	Autosomal trisomy	2q23.1 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:313947	"" []	6151204	\N	\N	EFO	8	EFO	disease	2q23.1 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:313947	"" []	3191052	\N	\N	EFO	5	EFO	Autosomal anomaly	2q23.1 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:313947	"" []	6410135	\N	\N	EFO	9	EFO	disposition	2q23.1 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:313947	"" []	4397785	\N	\N	EFO	6	EFO	Chromosomal anomaly	2q23.1 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:313947	"" []	6807971	\N	\N	EFO	10	EFO	material property	2q23.1 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:313947	"" []	5415186	\N	\N	EFO	7	EFO	genetic disorder	2q23.1 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:313947	"" []	7048696	\N	\N	EFO	11	EFO	experimental factor	2q23.1 microduplication syndrome
Orphanet:314	\N	\N	"" []	Orphanet:314	"" []	76405	\N	\N	EFO	0	EFO	Erythroderma desquamativum	Erythroderma desquamativum
Orphanet:183494	Orphanet:314	\N	"" []	Orphanet:314	"" []	219363	\N	\N	EFO	1	EFO	Genetic immune deficiency with skin involvement	Erythroderma desquamativum
Orphanet:68346	Orphanet:183494	\N	"" []	Orphanet:314	"" []	574775	\N	\N	EFO	2	EFO	Rare genetic skin disease	Erythroderma desquamativum
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314	"" []	1157614	\N	\N	EFO	3	EFO	genetic disorder	Erythroderma desquamativum
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:314	"" []	1157615	\N	\N	EFO	3	EFO	skin disease	Erythroderma desquamativum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314	"" []	2040748	\N	\N	EFO	4	EFO	disease	Erythroderma desquamativum
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314	"" []	2040749	\N	\N	EFO	4	EFO	disease	Erythroderma desquamativum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314	"" []	3191053	\N	\N	EFO	5	EFO	disposition	Erythroderma desquamativum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314	"" []	4397786	\N	\N	EFO	6	EFO	material property	Erythroderma desquamativum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314	"" []	5415187	\N	\N	EFO	7	EFO	experimental factor	Erythroderma desquamativum
Orphanet:314002	\N	\N	"" []	Orphanet:314002	"" []	76406	\N	\N	EFO	0	EFO	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Orphanet:330206	Orphanet:314002	\N	"" []	Orphanet:314002	"" []	219364	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:314002	"" []	574776	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:314002	"" []	1157616	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314002	"" []	2040750	\N	\N	EFO	4	EFO	genetic disorder	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314002	"" []	3191054	\N	\N	EFO	5	EFO	disease	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314002	"" []	4397787	\N	\N	EFO	6	EFO	disposition	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314002	"" []	5415188	\N	\N	EFO	7	EFO	material property	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314002	"" []	6151205	\N	\N	EFO	8	EFO	experimental factor	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Orphanet:314029	\N	\N	"" []	Orphanet:314029	"" []	76407	\N	\N	EFO	0	EFO	High bone mass osteogenesis imperfecta	High bone mass osteogenesis imperfecta
Orphanet:93444	Orphanet:314029	\N	"" []	Orphanet:314029	"" []	219365	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	High bone mass osteogenesis imperfecta
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:314029	"" []	574777	\N	\N	EFO	2	EFO	Primary bone dysplasia	High bone mass osteogenesis imperfecta
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:314029	"" []	1157617	\N	\N	EFO	3	EFO	Rare genetic bone disease	High bone mass osteogenesis imperfecta
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:314029	"" []	1157618	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	High bone mass osteogenesis imperfecta
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314029	"" []	2040751	\N	\N	EFO	4	EFO	genetic disorder	High bone mass osteogenesis imperfecta
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:314029	"" []	2040752	\N	\N	EFO	4	EFO	bone disease	High bone mass osteogenesis imperfecta
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:314029	"" []	2040753	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	High bone mass osteogenesis imperfecta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314029	"" []	4397790	\N	\N	EFO	6	EFO	disease	High bone mass osteogenesis imperfecta
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:314029	"" []	3191056	\N	\N	EFO	5	EFO	skeletal system disease	High bone mass osteogenesis imperfecta
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314029	"" []	3191057	\N	\N	EFO	5	EFO	genetic disorder	High bone mass osteogenesis imperfecta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314029	"" []	5182619	\N	\N	EFO	7	EFO	disposition	High bone mass osteogenesis imperfecta
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314029	"" []	4397789	\N	\N	EFO	6	EFO	disease	High bone mass osteogenesis imperfecta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314029	"" []	5997993	\N	\N	EFO	8	EFO	material property	High bone mass osteogenesis imperfecta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314029	"" []	6551309	\N	\N	EFO	9	EFO	experimental factor	High bone mass osteogenesis imperfecta
Orphanet:314034	\N	\N	"" []	Orphanet:314034	"" []	76408	\N	\N	EFO	0	EFO	7p22.1 microduplication syndrome	7p22.1 microduplication syndrome
Orphanet:102283	Orphanet:314034	\N	"" []	Orphanet:314034	"" []	219366	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	7p22.1 microduplication syndrome
Orphanet:262749	Orphanet:314034	\N	"" []	Orphanet:314034	"" []	219367	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 7	7p22.1 microduplication syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:314034	"" []	574778	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	7p22.1 microduplication syndrome
Orphanet:262633	Orphanet:262749	\N	"" []	Orphanet:314034	"" []	574779	\N	\N	EFO	2	EFO	Partial duplication of chromosome 7	7p22.1 microduplication syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:314034	"" []	1157619	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	7p22.1 microduplication syndrome
Orphanet:98132	Orphanet:262633	\N	"" []	Orphanet:314034	"" []	1157620	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	7p22.1 microduplication syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314034	"" []	2040754	\N	\N	EFO	4	EFO	genetic disorder	7p22.1 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:314034	"" []	2040755	\N	\N	EFO	4	EFO	Autosomal trisomy	7p22.1 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314034	"" []	6151208	\N	\N	EFO	8	EFO	disease	7p22.1 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:314034	"" []	3191059	\N	\N	EFO	5	EFO	Autosomal anomaly	7p22.1 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314034	"" []	6410136	\N	\N	EFO	9	EFO	disposition	7p22.1 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:314034	"" []	4397792	\N	\N	EFO	6	EFO	Chromosomal anomaly	7p22.1 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314034	"" []	6807972	\N	\N	EFO	10	EFO	material property	7p22.1 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314034	"" []	5415191	\N	\N	EFO	7	EFO	genetic disorder	7p22.1 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314034	"" []	7048697	\N	\N	EFO	11	EFO	experimental factor	7p22.1 microduplication syndrome
Orphanet:314041	\N	\N	"" []	Orphanet:314041	"" []	76409	\N	\N	EFO	0	EFO	Marfanoid habitus - inguinal hernia - advanced bone age	Marfanoid habitus - inguinal hernia - advanced bone age
Orphanet:139030	Orphanet:314041	\N	"" []	Orphanet:314041	"" []	219368	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Marfanoid habitus - inguinal hernia - advanced bone age
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:314041	"" []	574780	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Marfanoid habitus - inguinal hernia - advanced bone age
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314041	"" []	1157621	\N	\N	EFO	3	EFO	genetic disorder	Marfanoid habitus - inguinal hernia - advanced bone age
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314041	"" []	2040756	\N	\N	EFO	4	EFO	disease	Marfanoid habitus - inguinal hernia - advanced bone age
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314041	"" []	3191060	\N	\N	EFO	5	EFO	disposition	Marfanoid habitus - inguinal hernia - advanced bone age
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314041	"" []	4397793	\N	\N	EFO	6	EFO	material property	Marfanoid habitus - inguinal hernia - advanced bone age
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314041	"" []	5415192	\N	\N	EFO	7	EFO	experimental factor	Marfanoid habitus - inguinal hernia - advanced bone age
Orphanet:314051	\N	\N	"" []	Orphanet:314051	"" []	76410	\N	\N	EFO	0	EFO	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Orphanet:35696	Orphanet:314051	\N	"" []	Orphanet:314051	"" []	219369	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Orphanet:68356	Orphanet:314051	\N	"" []	Orphanet:314051	"" []	219370	\N	\N	EFO	1	EFO	Leukodystrophy	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:314051	"" []	574781	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:314051	"" []	574782	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:314051	"" []	1157622	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314051	"" []	1157623	\N	\N	EFO	3	EFO	genetic disorder	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:314051	"" []	2040757	\N	\N	EFO	4	EFO	Mitochondrial disease	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314051	"" []	6151209	\N	\N	EFO	8	EFO	disease	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:314051	"" []	3191061	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:314051	"" []	3191062	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314051	"" []	6378923	\N	\N	EFO	9	EFO	disposition	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:314051	"" []	4397794	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:314051	"" []	4397795	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314051	"" []	6778739	\N	\N	EFO	10	EFO	material property	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314051	"" []	5415193	\N	\N	EFO	7	EFO	genetic disorder	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314051	"" []	5415194	\N	\N	EFO	7	EFO	genetic disorder	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:314051	"" []	5415195	\N	\N	EFO	7	EFO	metabolic disease	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314051	"" []	7029936	\N	\N	EFO	11	EFO	experimental factor	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314051	"" []	6151210	\N	\N	EFO	8	EFO	disease	Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Orphanet:314373	\N	\N	"" []	Orphanet:314373	"" []	76411	\N	\N	EFO	0	EFO	Chronic diarrhea due to guanylate cyclase 2C overactivity	Chronic diarrhea due to guanylate cyclase 2C overactivity
Orphanet:104009	Orphanet:314373	\N	"" []	Orphanet:314373	"" []	219371	\N	\N	EFO	1	EFO	Congenital intestinal motility disorder	Chronic diarrhea due to guanylate cyclase 2C overactivity
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:314373	"" []	574783	\N	\N	EFO	2	EFO	Genetic intestinal disease	Chronic diarrhea due to guanylate cyclase 2C overactivity
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:314373	"" []	1157624	\N	\N	EFO	3	EFO	digestive system disease	Chronic diarrhea due to guanylate cyclase 2C overactivity
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:314373	"" []	1157625	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Chronic diarrhea due to guanylate cyclase 2C overactivity
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314373	"" []	2040759	\N	\N	EFO	4	EFO	disease	Chronic diarrhea due to guanylate cyclase 2C overactivity
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314373	"" []	2040760	\N	\N	EFO	4	EFO	genetic disorder	Chronic diarrhea due to guanylate cyclase 2C overactivity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314373	"" []	4397798	\N	\N	EFO	6	EFO	disposition	Chronic diarrhea due to guanylate cyclase 2C overactivity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314373	"" []	3191065	\N	\N	EFO	5	EFO	disease	Chronic diarrhea due to guanylate cyclase 2C overactivity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314373	"" []	5182620	\N	\N	EFO	7	EFO	material property	Chronic diarrhea due to guanylate cyclase 2C overactivity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314373	"" []	5997994	\N	\N	EFO	8	EFO	experimental factor	Chronic diarrhea due to guanylate cyclase 2C overactivity
Orphanet:314376	\N	\N	"" []	Orphanet:314376	"" []	76412	\N	\N	EFO	0	EFO	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Orphanet:104009	Orphanet:314376	\N	"" []	Orphanet:314376	"" []	219372	\N	\N	EFO	1	EFO	Congenital intestinal motility disorder	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:314376	"" []	574784	\N	\N	EFO	2	EFO	Genetic intestinal disease	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:314376	"" []	1157626	\N	\N	EFO	3	EFO	digestive system disease	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:314376	"" []	1157627	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314376	"" []	2040761	\N	\N	EFO	4	EFO	disease	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314376	"" []	2040762	\N	\N	EFO	4	EFO	genetic disorder	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314376	"" []	4397800	\N	\N	EFO	6	EFO	disposition	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314376	"" []	3191067	\N	\N	EFO	5	EFO	disease	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314376	"" []	5182621	\N	\N	EFO	7	EFO	material property	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314376	"" []	5997995	\N	\N	EFO	8	EFO	experimental factor	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Orphanet:314381	\N	\N	"" []	Orphanet:314381	"" []	76413	\N	\N	EFO	0	EFO	Hereditary sensory and autonomic neuropathy type 6	Hereditary sensory and autonomic neuropathy type 6
Orphanet:140477	Orphanet:314381	\N	"" []	Orphanet:314381	"" []	219373	\N	\N	EFO	1	EFO	Autosomal recessive hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 6
Orphanet:140471	Orphanet:140477	\N	"" []	Orphanet:314381	"" []	574785	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 6
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:314381	"" []	1157628	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary sensory and autonomic neuropathy type 6
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:314381	"" []	2040763	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary sensory and autonomic neuropathy type 6
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314381	"" []	3191068	\N	\N	EFO	5	EFO	genetic disorder	Hereditary sensory and autonomic neuropathy type 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314381	"" []	4397801	\N	\N	EFO	6	EFO	disease	Hereditary sensory and autonomic neuropathy type 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314381	"" []	5415199	\N	\N	EFO	7	EFO	disposition	Hereditary sensory and autonomic neuropathy type 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314381	"" []	6151211	\N	\N	EFO	8	EFO	material property	Hereditary sensory and autonomic neuropathy type 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314381	"" []	6633546	\N	\N	EFO	9	EFO	experimental factor	Hereditary sensory and autonomic neuropathy type 6
Orphanet:314389	\N	\N	"" []	Orphanet:314389	"" []	76414	\N	\N	EFO	0	EFO	Xq12-q13.3 duplication syndrome	Xq12-q13.3 duplication syndrome
Orphanet:180772	Orphanet:314389	\N	"" []	Orphanet:314389	"" []	219374	\N	\N	EFO	1	EFO	Rare disease with autism	Xq12-q13.3 duplication syndrome
Orphanet:263783	Orphanet:314389	\N	"" []	Orphanet:314389	"" []	219375	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome X	Xq12-q13.3 duplication syndrome
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:314389	"" []	574786	\N	\N	EFO	2	EFO	Rare pervasive developmental disorder	Xq12-q13.3 duplication syndrome
Orphanet:263768	Orphanet:263783	\N	"" []	Orphanet:314389	"" []	574787	\N	\N	EFO	2	EFO	Partial duplication of chromosome X	Xq12-q13.3 duplication syndrome
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:314389	"" []	1157629	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Xq12-q13.3 duplication syndrome
Orphanet:98159	Orphanet:263768	\N	"" []	Orphanet:314389	"" []	1157630	\N	\N	EFO	3	EFO	Chromosome X structural anomaly	Xq12-q13.3 duplication syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314389	"" []	2040764	\N	\N	EFO	4	EFO	genetic disorder	Xq12-q13.3 duplication syndrome
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:314389	"" []	2040765	\N	\N	EFO	4	EFO	Gonosome structural anomaly	Xq12-q13.3 duplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314389	"" []	6151213	\N	\N	EFO	8	EFO	disease	Xq12-q13.3 duplication syndrome
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:314389	"" []	3191070	\N	\N	EFO	5	EFO	Gonosome anomaly	Xq12-q13.3 duplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314389	"" []	6410137	\N	\N	EFO	9	EFO	disposition	Xq12-q13.3 duplication syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:314389	"" []	4397803	\N	\N	EFO	6	EFO	Chromosomal anomaly	Xq12-q13.3 duplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314389	"" []	6807973	\N	\N	EFO	10	EFO	material property	Xq12-q13.3 duplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314389	"" []	5415201	\N	\N	EFO	7	EFO	genetic disorder	Xq12-q13.3 duplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314389	"" []	7048698	\N	\N	EFO	11	EFO	experimental factor	Xq12-q13.3 duplication syndrome
Orphanet:314394	\N	\N	"" []	Orphanet:314394	"" []	76415	\N	\N	EFO	0	EFO	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Orphanet:93440	Orphanet:314394	\N	"" []	Orphanet:314394	"" []	219376	\N	\N	EFO	1	EFO	Slender bone dysplasia	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:314394	"" []	574788	\N	\N	EFO	2	EFO	Primary bone dysplasia	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:314394	"" []	1157631	\N	\N	EFO	3	EFO	Rare genetic bone disease	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:314394	"" []	1157632	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314394	"" []	2040766	\N	\N	EFO	4	EFO	genetic disorder	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:314394	"" []	2040767	\N	\N	EFO	4	EFO	bone disease	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:314394	"" []	2040768	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314394	"" []	4397806	\N	\N	EFO	6	EFO	disease	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:314394	"" []	3191072	\N	\N	EFO	5	EFO	skeletal system disease	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314394	"" []	3191073	\N	\N	EFO	5	EFO	genetic disorder	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314394	"" []	5182622	\N	\N	EFO	7	EFO	disposition	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314394	"" []	4397805	\N	\N	EFO	6	EFO	disease	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314394	"" []	5997996	\N	\N	EFO	8	EFO	material property	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314394	"" []	6551310	\N	\N	EFO	9	EFO	experimental factor	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Orphanet:314399	\N	\N	"" []	Orphanet:314399	"" []	76416	\N	\N	EFO	0	EFO	Autosomal dominant aplasia and myelodysplasia	Autosomal dominant aplasia and myelodysplasia
Orphanet:68383	Orphanet:314399	\N	"" []	Orphanet:314399	"" []	219377	\N	\N	EFO	1	EFO	Rare constitutional medullar aplasia	Autosomal dominant aplasia and myelodysplasia
Orphanet:182040	Orphanet:68383	\N	"" []	Orphanet:314399	"" []	574789	\N	\N	EFO	2	EFO	Medullar aplasia	Autosomal dominant aplasia and myelodysplasia
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:314399	"" []	1157633	\N	\N	EFO	3	EFO	Rare constitutional anemia	Autosomal dominant aplasia and myelodysplasia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:314399	"" []	2040769	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Autosomal dominant aplasia and myelodysplasia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314399	"" []	3191074	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant aplasia and myelodysplasia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:314399	"" []	3191075	\N	\N	EFO	5	EFO	hematological system disease	Autosomal dominant aplasia and myelodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314399	"" []	4397807	\N	\N	EFO	6	EFO	disease	Autosomal dominant aplasia and myelodysplasia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314399	"" []	4397808	\N	\N	EFO	6	EFO	disease	Autosomal dominant aplasia and myelodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314399	"" []	5415203	\N	\N	EFO	7	EFO	disposition	Autosomal dominant aplasia and myelodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314399	"" []	6151215	\N	\N	EFO	8	EFO	material property	Autosomal dominant aplasia and myelodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314399	"" []	6633547	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant aplasia and myelodysplasia
Orphanet:3144	\N	\N	"" []	Orphanet:3144	"" []	76417	\N	\N	EFO	0	EFO	Schneckenbecken dysplasia	Schneckenbecken dysplasia
Orphanet:309463	Orphanet:3144	\N	"" []	Orphanet:3144	"" []	219378	\N	\N	EFO	1	EFO	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis	Schneckenbecken dysplasia
Orphanet:371195	Orphanet:3144	\N	"" []	Orphanet:3144	"" []	219379	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation-related bone disorder	Schneckenbecken dysplasia
Orphanet:93434	Orphanet:3144	\N	"" []	Orphanet:3144	"" []	219380	\N	\N	EFO	1	EFO	Spondylodysplastic dysplasia	Schneckenbecken dysplasia
Orphanet:309447	Orphanet:309463	\N	"" []	Orphanet:3144	"" []	574790	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Schneckenbecken dysplasia
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:3144	"" []	574791	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Schneckenbecken dysplasia
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:3144	"" []	574792	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Schneckenbecken dysplasia
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:3144	"" []	574793	\N	\N	EFO	2	EFO	Primary bone dysplasia	Schneckenbecken dysplasia
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:3144	"" []	1157634	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Schneckenbecken dysplasia
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:3144	"" []	1157635	\N	\N	EFO	3	EFO	Rare genetic bone disease	Schneckenbecken dysplasia
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:3144	"" []	1157636	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Schneckenbecken dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3144	"" []	1157637	\N	\N	EFO	3	EFO	Rare genetic bone disease	Schneckenbecken dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3144	"" []	1157638	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Schneckenbecken dysplasia
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:3144	"" []	2040770	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Schneckenbecken dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3144	"" []	2040771	\N	\N	EFO	4	EFO	genetic disorder	Schneckenbecken dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3144	"" []	2040772	\N	\N	EFO	4	EFO	bone disease	Schneckenbecken dysplasia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:3144	"" []	2040773	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Schneckenbecken dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3144	"" []	2040774	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Schneckenbecken dysplasia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3144	"" []	3191076	\N	\N	EFO	5	EFO	genetic disorder	Schneckenbecken dysplasia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3144	"" []	3191077	\N	\N	EFO	5	EFO	metabolic disease	Schneckenbecken dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3144	"" []	4397809	\N	\N	EFO	6	EFO	disease	Schneckenbecken dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3144	"" []	3191079	\N	\N	EFO	5	EFO	skeletal system disease	Schneckenbecken dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3144	"" []	3191080	\N	\N	EFO	5	EFO	genetic disorder	Schneckenbecken dysplasia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3144	"" []	4397810	\N	\N	EFO	6	EFO	disease	Schneckenbecken dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3144	"" []	5182623	\N	\N	EFO	7	EFO	disposition	Schneckenbecken dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3144	"" []	4397812	\N	\N	EFO	6	EFO	disease	Schneckenbecken dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3144	"" []	5997997	\N	\N	EFO	8	EFO	material property	Schneckenbecken dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3144	"" []	6551311	\N	\N	EFO	9	EFO	experimental factor	Schneckenbecken dysplasia
Orphanet:314404	\N	\N	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	76418	\N	\N	EFO	0	EFO	Autosomal dominant cerebellar ataxia, deafness and narcolepsy	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:90642	Orphanet:314404	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	219381	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:94145	Orphanet:314404	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	219382	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	574794	\N	\N	EFO	2	EFO	Rare genetic deafness	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	574795	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	1157639	\N	\N	EFO	3	EFO	genetic disorder	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	1157640	\N	\N	EFO	3	EFO	auditory system disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	1157641	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	1157642	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	1157643	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	6410138	\N	\N	EFO	9	EFO	disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	2040776	\N	\N	EFO	4	EFO	sensory system disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	2040777	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	2040778	\N	\N	EFO	4	EFO	Ataxia with dementia	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	2040779	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	6762382	\N	\N	EFO	10	EFO	disposition	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	3191082	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	6151218	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	3191084	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	3191085	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	7015695	\N	\N	EFO	11	EFO	material property	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	6633548	\N	\N	EFO	9	EFO	disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	4397816	\N	\N	EFO	6	EFO	Genetic dementia	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	4397817	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	4397818	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	7173643	\N	\N	EFO	12	EFO	experimental factor	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	5415206	\N	\N	EFO	7	EFO	brain disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	5415207	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	5415208	\N	\N	EFO	7	EFO	neurodegenerative disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	5415209	\N	\N	EFO	7	EFO	brain disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	5415210	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	5415211	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	5415212	\N	\N	EFO	7	EFO	eye disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	6151217	\N	\N	EFO	8	EFO	nervous system disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	6151219	\N	\N	EFO	8	EFO	nervous system disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314404	"Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." []	6151221	\N	\N	EFO	8	EFO	disease	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Orphanet:314485	\N	\N	"" []	Orphanet:314485	"" []	76419	\N	\N	EFO	0	EFO	Young adult-onset distal hereditary motor neuropathy	Young adult-onset distal hereditary motor neuropathy
Orphanet:140468	Orphanet:314485	\N	"" []	Orphanet:314485	"" []	219383	\N	\N	EFO	1	EFO	Autosomal recessive distal hereditary motor neuropathy	Young adult-onset distal hereditary motor neuropathy
Orphanet:206713	Orphanet:140468	\N	"" []	Orphanet:314485	"" []	574796	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	Young adult-onset distal hereditary motor neuropathy
Orphanet:53739	Orphanet:140468	\N	"" []	Orphanet:314485	"" []	574797	\N	\N	EFO	2	EFO	Distal hereditary motor neuropathy	Young adult-onset distal hereditary motor neuropathy
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:314485	"" []	1157644	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Young adult-onset distal hereditary motor neuropathy
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:314485	"" []	1157645	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Young adult-onset distal hereditary motor neuropathy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:314485	"" []	2040780	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Young adult-onset distal hereditary motor neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:314485	"" []	2040781	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Young adult-onset distal hereditary motor neuropathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:314485	"" []	3191086	\N	\N	EFO	5	EFO	muscular disease	Young adult-onset distal hereditary motor neuropathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:314485	"" []	3191087	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Young adult-onset distal hereditary motor neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314485	"" []	4397820	\N	\N	EFO	6	EFO	genetic disorder	Young adult-onset distal hereditary motor neuropathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:314485	"" []	4397819	\N	\N	EFO	6	EFO	skeletal system disease	Young adult-onset distal hereditary motor neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314485	"" []	5182624	\N	\N	EFO	7	EFO	disease	Young adult-onset distal hereditary motor neuropathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314485	"" []	5415213	\N	\N	EFO	7	EFO	disease	Young adult-onset distal hereditary motor neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314485	"" []	5997998	\N	\N	EFO	8	EFO	disposition	Young adult-onset distal hereditary motor neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314485	"" []	6551312	\N	\N	EFO	9	EFO	material property	Young adult-onset distal hereditary motor neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314485	"" []	6889390	\N	\N	EFO	10	EFO	experimental factor	Young adult-onset distal hereditary motor neuropathy
Orphanet:3145	\N	\N	"" []	Orphanet:3145	"" []	76420	\N	\N	EFO	0	EFO	Nephrogenic diabetes insipidus - intracranial calcification	Nephrogenic diabetes insipidus - intracranial calcification
Orphanet:183592	Orphanet:3145	\N	"" []	Orphanet:3145	"" []	219384	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Nephrogenic diabetes insipidus - intracranial calcification
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:3145	"" []	574798	\N	\N	EFO	2	EFO	Rare genetic renal disease	Nephrogenic diabetes insipidus - intracranial calcification
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3145	"" []	1157646	\N	\N	EFO	3	EFO	genetic disorder	Nephrogenic diabetes insipidus - intracranial calcification
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3145	"" []	2040782	\N	\N	EFO	4	EFO	disease	Nephrogenic diabetes insipidus - intracranial calcification
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3145	"" []	3191089	\N	\N	EFO	5	EFO	disposition	Nephrogenic diabetes insipidus - intracranial calcification
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3145	"" []	4397822	\N	\N	EFO	6	EFO	material property	Nephrogenic diabetes insipidus - intracranial calcification
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3145	"" []	5415215	\N	\N	EFO	7	EFO	experimental factor	Nephrogenic diabetes insipidus - intracranial calcification
Orphanet:314555	\N	\N	"" []	Orphanet:314555	"" []	76421	\N	\N	EFO	0	EFO	Craniofacial dysplasia-osteopenia syndrome	Craniofacial dysplasia-osteopenia syndrome
Orphanet:183542	Orphanet:314555	\N	"" []	Orphanet:314555	"" []	219385	\N	\N	EFO	1	EFO	Genetic cranial malformation	Craniofacial dysplasia-osteopenia syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:314555	"" []	574799	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Craniofacial dysplasia-osteopenia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314555	"" []	1157647	\N	\N	EFO	3	EFO	genetic disorder	Craniofacial dysplasia-osteopenia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314555	"" []	2040783	\N	\N	EFO	4	EFO	disease	Craniofacial dysplasia-osteopenia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314555	"" []	3191090	\N	\N	EFO	5	EFO	disposition	Craniofacial dysplasia-osteopenia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314555	"" []	4397823	\N	\N	EFO	6	EFO	material property	Craniofacial dysplasia-osteopenia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314555	"" []	5415216	\N	\N	EFO	7	EFO	experimental factor	Craniofacial dysplasia-osteopenia syndrome
Orphanet:314572	\N	\N	"" []	Orphanet:314572	"" []	76422	\N	\N	EFO	0	EFO	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
Orphanet:183503	Orphanet:314572	\N	"" []	Orphanet:314572	"" []	219386	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
Orphanet:98661	Orphanet:314572	\N	"" []	Orphanet:314572	"" []	219387	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:314572	"" []	574800	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:314572	"" []	574801	\N	\N	EFO	2	EFO	Retinal dystrophy	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314572	"" []	1157648	\N	\N	EFO	3	EFO	genetic disorder	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:314572	"" []	1157649	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314572	"" []	4397825	\N	\N	EFO	6	EFO	disease	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:314572	"" []	2040785	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314572	"" []	5059980	\N	\N	EFO	7	EFO	disposition	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314572	"" []	3191092	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:314572	"" []	3191093	\N	\N	EFO	5	EFO	eye disease	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314572	"" []	5877318	\N	\N	EFO	8	EFO	material property	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314572	"" []	4397826	\N	\N	EFO	6	EFO	disease	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314572	"" []	6470555	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
Orphanet:314575	\N	\N	"" []	Orphanet:314575	"" []	76423	\N	\N	EFO	0	EFO	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Orphanet:102283	Orphanet:314575	\N	"" []	Orphanet:314575	"" []	219388	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:314575	"" []	574802	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:314575	"" []	1157650	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314575	"" []	2040786	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314575	"" []	3191094	\N	\N	EFO	5	EFO	disease	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314575	"" []	4397827	\N	\N	EFO	6	EFO	disposition	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314575	"" []	5415218	\N	\N	EFO	7	EFO	material property	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314575	"" []	6151223	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Orphanet:314585	\N	\N	"" []	Orphanet:314585	"" []	76424	\N	\N	EFO	0	EFO	15q overgrowth syndrome	15q overgrowth syndrome
Orphanet:102283	Orphanet:314585	\N	"" []	Orphanet:314585	"" []	219389	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	15q overgrowth syndrome
Orphanet:262950	Orphanet:314585	\N	"" []	Orphanet:314585	"" []	219390	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 15	15q overgrowth syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:314585	"" []	574803	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	15q overgrowth syndrome
Orphanet:98132	Orphanet:262950	\N	"" []	Orphanet:314585	"" []	574804	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	15q overgrowth syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:314585	"" []	1157651	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	15q overgrowth syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:314585	"" []	1157652	\N	\N	EFO	3	EFO	Autosomal trisomy	15q overgrowth syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314585	"" []	2040787	\N	\N	EFO	4	EFO	genetic disorder	15q overgrowth syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:314585	"" []	2040788	\N	\N	EFO	4	EFO	Autosomal anomaly	15q overgrowth syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314585	"" []	5415220	\N	\N	EFO	7	EFO	disease	15q overgrowth syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:314585	"" []	3191096	\N	\N	EFO	5	EFO	Chromosomal anomaly	15q overgrowth syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314585	"" []	5877319	\N	\N	EFO	8	EFO	disposition	15q overgrowth syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314585	"" []	4397829	\N	\N	EFO	6	EFO	genetic disorder	15q overgrowth syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314585	"" []	6470556	\N	\N	EFO	9	EFO	material property	15q overgrowth syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314585	"" []	6848604	\N	\N	EFO	10	EFO	experimental factor	15q overgrowth syndrome
Orphanet:314588	\N	\N	"" []	Orphanet:314588	"" []	76425	\N	\N	EFO	0	EFO	Distal tetrasomy 15q	Distal tetrasomy 15q
Orphanet:314585	Orphanet:314588	\N	"" []	Orphanet:314588	"" []	219391	\N	\N	EFO	1	EFO	15q overgrowth syndrome	Distal tetrasomy 15q
Orphanet:102283	Orphanet:314585	\N	"" []	Orphanet:314588	"" []	574805	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Distal tetrasomy 15q
Orphanet:262950	Orphanet:314585	\N	"" []	Orphanet:314588	"" []	574806	\N	\N	EFO	2	EFO	Partial duplication of the long arm of chromosome 15	Distal tetrasomy 15q
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:314588	"" []	1157653	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Distal tetrasomy 15q
Orphanet:98132	Orphanet:262950	\N	"" []	Orphanet:314588	"" []	1157654	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal tetrasomy 15q
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:314588	"" []	2040789	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Distal tetrasomy 15q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:314588	"" []	2040790	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal tetrasomy 15q
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314588	"" []	3191097	\N	\N	EFO	5	EFO	genetic disorder	Distal tetrasomy 15q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:314588	"" []	3191098	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal tetrasomy 15q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314588	"" []	6151226	\N	\N	EFO	8	EFO	disease	Distal tetrasomy 15q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:314588	"" []	4397831	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal tetrasomy 15q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314588	"" []	6470557	\N	\N	EFO	9	EFO	disposition	Distal tetrasomy 15q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314588	"" []	5415222	\N	\N	EFO	7	EFO	genetic disorder	Distal tetrasomy 15q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314588	"" []	6848605	\N	\N	EFO	10	EFO	material property	Distal tetrasomy 15q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314588	"" []	7068484	\N	\N	EFO	11	EFO	experimental factor	Distal tetrasomy 15q
Orphanet:314597	\N	\N	"" []	Orphanet:314597	"" []	76426	\N	\N	EFO	0	EFO	Chudley-McCullough syndrome	Chudley-McCullough syndrome
Orphanet:269564	Orphanet:314597	\N	"" []	Orphanet:314597	"" []	219392	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Chudley-McCullough syndrome
Orphanet:90642	Orphanet:314597	\N	"" []	Orphanet:314597	"" []	219393	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Chudley-McCullough syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:314597	"" []	574807	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Chudley-McCullough syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:314597	"" []	574808	\N	\N	EFO	2	EFO	Rare genetic deafness	Chudley-McCullough syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:314597	"" []	1157655	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Chudley-McCullough syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:314597	"" []	1157656	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Chudley-McCullough syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314597	"" []	1157657	\N	\N	EFO	3	EFO	genetic disorder	Chudley-McCullough syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:314597	"" []	1157658	\N	\N	EFO	3	EFO	auditory system disease	Chudley-McCullough syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314597	"" []	2040791	\N	\N	EFO	4	EFO	genetic disorder	Chudley-McCullough syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314597	"" []	2040792	\N	\N	EFO	4	EFO	genetic disorder	Chudley-McCullough syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314597	"" []	3191099	\N	\N	EFO	5	EFO	disease	Chudley-McCullough syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:314597	"" []	2040794	\N	\N	EFO	4	EFO	sensory system disease	Chudley-McCullough syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314597	"" []	5415224	\N	\N	EFO	7	EFO	disposition	Chudley-McCullough syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314597	"" []	3191101	\N	\N	EFO	5	EFO	nervous system disease	Chudley-McCullough syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314597	"" []	5877320	\N	\N	EFO	8	EFO	material property	Chudley-McCullough syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314597	"" []	4397833	\N	\N	EFO	6	EFO	disease	Chudley-McCullough syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314597	"" []	6470558	\N	\N	EFO	9	EFO	experimental factor	Chudley-McCullough syndrome
Orphanet:314603	\N	\N	"" []	Orphanet:314603	"" []	76427	\N	\N	EFO	0	EFO	Autosomal recessive spastic ataxia with leukoencephalopathy	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:316240	Orphanet:314603	\N	"" []	Orphanet:314603	"" []	219394	\N	\N	EFO	1	EFO	Autosomal recessive spastic ataxia	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:35696	Orphanet:314603	\N	"" []	Orphanet:314603	"" []	219395	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:316226	Orphanet:316240	\N	"" []	Orphanet:314603	"" []	574809	\N	\N	EFO	2	EFO	Spastic ataxia	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:314603	"" []	574810	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:183518	Orphanet:316226	\N	"" []	Orphanet:314603	"" []	1157659	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:314603	"" []	1157660	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:314603	"" []	2040795	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:314603	"" []	2040796	\N	\N	EFO	4	EFO	Mitochondrial disease	Autosomal recessive spastic ataxia with leukoencephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314603	"" []	3191102	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:314603	"" []	3191103	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:314603	"" []	3191104	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Autosomal recessive spastic ataxia with leukoencephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314603	"" []	6151228	\N	\N	EFO	8	EFO	disease	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:314603	"" []	4397835	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:314603	"" []	4397836	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Autosomal recessive spastic ataxia with leukoencephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314603	"" []	6470559	\N	\N	EFO	9	EFO	disposition	Autosomal recessive spastic ataxia with leukoencephalopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314603	"" []	5415226	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive spastic ataxia with leukoencephalopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314603	"" []	5415227	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive spastic ataxia with leukoencephalopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:314603	"" []	5415228	\N	\N	EFO	7	EFO	metabolic disease	Autosomal recessive spastic ataxia with leukoencephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314603	"" []	6848606	\N	\N	EFO	10	EFO	material property	Autosomal recessive spastic ataxia with leukoencephalopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314603	"" []	6151229	\N	\N	EFO	8	EFO	disease	Autosomal recessive spastic ataxia with leukoencephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314603	"" []	7068485	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive spastic ataxia with leukoencephalopathy
Orphanet:314621	\N	\N	"" []	Orphanet:314621	"" []	76428	\N	\N	EFO	0	EFO	Duplication of the pituitary gland	Duplication of the pituitary gland
Orphanet:268926	Orphanet:314621	\N	"" []	Orphanet:314621	"" []	219396	\N	\N	EFO	1	EFO	Midline cerebral malformation	Duplication of the pituitary gland
Orphanet:269553	Orphanet:268926	\N	"" []	Orphanet:314621	"" []	574811	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Duplication of the pituitary gland
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:314621	"" []	1157661	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Duplication of the pituitary gland
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:314621	"" []	2040797	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Duplication of the pituitary gland
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:314621	"" []	3191105	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Duplication of the pituitary gland
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:314621	"" []	3191106	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Duplication of the pituitary gland
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314621	"" []	4397837	\N	\N	EFO	6	EFO	genetic disorder	Duplication of the pituitary gland
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314621	"" []	4397838	\N	\N	EFO	6	EFO	genetic disorder	Duplication of the pituitary gland
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314621	"" []	5415229	\N	\N	EFO	7	EFO	disease	Duplication of the pituitary gland
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314621	"" []	6151230	\N	\N	EFO	8	EFO	disposition	Duplication of the pituitary gland
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314621	"" []	6633552	\N	\N	EFO	9	EFO	material property	Duplication of the pituitary gland
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314621	"" []	6926033	\N	\N	EFO	10	EFO	experimental factor	Duplication of the pituitary gland
Orphanet:314629	\N	\N	"" []	Orphanet:314629	"" []	76429	\N	\N	EFO	0	EFO	CLN11 disease	CLN11 disease
Orphanet:79262	Orphanet:314629	\N	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	Orphanet:314629	"" []	219397	\N	\N	EFO	1	EFO	Adult neuronal ceroid lipofuscinosis	CLN11 disease
Orphanet:216	Orphanet:79262	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:314629	"" []	574812	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN11 disease
Orphanet:98261	Orphanet:79262	\N	"" []	Orphanet:314629	"" []	574813	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN11 disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:314629	"" []	1157662	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN11 disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:314629	"" []	1157663	\N	\N	EFO	3	EFO	Lysosomal disease	CLN11 disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:314629	"" []	1157664	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN11 disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:314629	"" []	1157665	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN11 disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:314629	"" []	1157666	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN11 disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:314629	"" []	1157667	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN11 disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:314629	"" []	1157668	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN11 disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:314629	"" []	2040798	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN11 disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:314629	"" []	2040799	\N	\N	EFO	4	EFO	brain disease	CLN11 disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:314629	"" []	2040800	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN11 disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:314629	"" []	2040801	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN11 disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:314629	"" []	2040802	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN11 disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:314629	"" []	2040803	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN11 disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:314629	"" []	2040804	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN11 disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:314629	"" []	2040805	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN11 disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:314629	"" []	2040806	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN11 disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314629	"" []	3191107	\N	\N	EFO	5	EFO	nervous system disease	CLN11 disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314629	"" []	3191108	\N	\N	EFO	5	EFO	nervous system disease	CLN11 disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314629	"" []	5415234	\N	\N	EFO	7	EFO	genetic disorder	CLN11 disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314629	"" []	3191110	\N	\N	EFO	5	EFO	genetic disorder	CLN11 disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:314629	"" []	3191111	\N	\N	EFO	5	EFO	metabolic disease	CLN11 disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:314629	"" []	3191112	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN11 disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:314629	"" []	3191113	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN11 disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:314629	"" []	3191114	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN11 disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314629	"" []	4397839	\N	\N	EFO	6	EFO	disease	CLN11 disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314629	"" []	6470561	\N	\N	EFO	9	EFO	disease	CLN11 disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314629	"" []	4397841	\N	\N	EFO	6	EFO	disease	CLN11 disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:314629	"" []	4397842	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN11 disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314629	"" []	6151232	\N	\N	EFO	8	EFO	genetic disorder	CLN11 disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:314629	"" []	6151233	\N	\N	EFO	8	EFO	eye disease	CLN11 disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:314629	"" []	4397845	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN11 disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314629	"" []	6807974	\N	\N	EFO	10	EFO	disposition	CLN11 disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:314629	"" []	5415231	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN11 disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314629	"" []	6470562	\N	\N	EFO	9	EFO	disease	CLN11 disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314629	"" []	7048699	\N	\N	EFO	11	EFO	material property	CLN11 disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314629	"" []	7190236	\N	\N	EFO	12	EFO	experimental factor	CLN11 disease
Orphanet:314632	\N	\N	"" []	Orphanet:314632	"" []	76430	\N	\N	EFO	0	EFO	Parkinsonim due to ATP13A2 deficiency	Parkinsonim due to ATP13A2 deficiency
Orphanet:216	Orphanet:314632	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:314632	"" []	219398	\N	\N	EFO	1	EFO	Neuronal ceroid lipofuscinosis	Parkinsonim due to ATP13A2 deficiency
Orphanet:307055	Orphanet:314632	\N	"" []	Orphanet:314632	"" []	219399	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Parkinsonim due to ATP13A2 deficiency
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:314632	"" []	574814	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Parkinsonim due to ATP13A2 deficiency
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:314632	"" []	574815	\N	\N	EFO	2	EFO	Lysosomal disease	Parkinsonim due to ATP13A2 deficiency
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:314632	"" []	574816	\N	\N	EFO	2	EFO	Neurometabolic disease	Parkinsonim due to ATP13A2 deficiency
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:314632	"" []	574817	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Parkinsonim due to ATP13A2 deficiency
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:314632	"" []	574818	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Parkinsonim due to ATP13A2 deficiency
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:314632	"" []	574819	\N	\N	EFO	2	EFO	neurodegenerative disease	Parkinsonim due to ATP13A2 deficiency
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:314632	"" []	574820	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Parkinsonim due to ATP13A2 deficiency
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:314632	"" []	1157669	\N	\N	EFO	3	EFO	neurodegenerative disease	Parkinsonim due to ATP13A2 deficiency
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:314632	"" []	1157670	\N	\N	EFO	3	EFO	brain disease	Parkinsonim due to ATP13A2 deficiency
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:314632	"" []	1157671	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Parkinsonim due to ATP13A2 deficiency
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:314632	"" []	1157672	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Parkinsonim due to ATP13A2 deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:314632	"" []	1157673	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Parkinsonim due to ATP13A2 deficiency
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:314632	"" []	1157674	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Parkinsonim due to ATP13A2 deficiency
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:314632	"" []	1157675	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Parkinsonim due to ATP13A2 deficiency
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314632	"" []	2040807	\N	\N	EFO	4	EFO	nervous system disease	Parkinsonim due to ATP13A2 deficiency
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:314632	"" []	1157677	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Parkinsonim due to ATP13A2 deficiency
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314632	"" []	2040808	\N	\N	EFO	4	EFO	nervous system disease	Parkinsonim due to ATP13A2 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314632	"" []	3191122	\N	\N	EFO	5	EFO	genetic disorder	Parkinsonim due to ATP13A2 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314632	"" []	2040810	\N	\N	EFO	4	EFO	genetic disorder	Parkinsonim due to ATP13A2 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:314632	"" []	2040811	\N	\N	EFO	4	EFO	metabolic disease	Parkinsonim due to ATP13A2 deficiency
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:314632	"" []	2040812	\N	\N	EFO	4	EFO	Retinal dystrophy	Parkinsonim due to ATP13A2 deficiency
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:314632	"" []	2040813	\N	\N	EFO	4	EFO	Rare genetic eye disease	Parkinsonim due to ATP13A2 deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314632	"" []	4397849	\N	\N	EFO	6	EFO	disease	Parkinsonim due to ATP13A2 deficiency
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:314632	"" []	2040815	\N	\N	EFO	4	EFO	movement disorder	Parkinsonim due to ATP13A2 deficiency
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:314632	"" []	2040816	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Parkinsonim due to ATP13A2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314632	"" []	5877322	\N	\N	EFO	8	EFO	disease	Parkinsonim due to ATP13A2 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314632	"" []	3191116	\N	\N	EFO	5	EFO	disease	Parkinsonim due to ATP13A2 deficiency
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:314632	"" []	3191117	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Parkinsonim due to ATP13A2 deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314632	"" []	5415235	\N	\N	EFO	7	EFO	genetic disorder	Parkinsonim due to ATP13A2 deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:314632	"" []	5415236	\N	\N	EFO	7	EFO	eye disease	Parkinsonim due to ATP13A2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314632	"" []	6410139	\N	\N	EFO	9	EFO	disposition	Parkinsonim due to ATP13A2 deficiency
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314632	"" []	3191121	\N	\N	EFO	5	EFO	nervous system disease	Parkinsonim due to ATP13A2 deficiency
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:314632	"" []	4397846	\N	\N	EFO	6	EFO	Rare genetic eye disease	Parkinsonim due to ATP13A2 deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314632	"" []	5877323	\N	\N	EFO	8	EFO	disease	Parkinsonim due to ATP13A2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314632	"" []	6778741	\N	\N	EFO	10	EFO	material property	Parkinsonim due to ATP13A2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314632	"" []	7029938	\N	\N	EFO	11	EFO	experimental factor	Parkinsonim due to ATP13A2 deficiency
Orphanet:314637	\N	\N	"" []	Orphanet:314637	"" []	76431	\N	\N	EFO	0	EFO	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Orphanet:217587	Orphanet:314637	\N	"" []	Orphanet:314637	"" []	219400	\N	\N	EFO	1	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Orphanet:35696	Orphanet:314637	\N	"" []	Orphanet:314637	"" []	219401	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:314637	"" []	574821	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:314637	"" []	574822	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:314637	"" []	1157678	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:314637	"" []	1157679	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314637	"" []	2040817	\N	\N	EFO	4	EFO	genetic disorder	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:314637	"" []	2040818	\N	\N	EFO	4	EFO	heart disease	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:314637	"" []	2040819	\N	\N	EFO	4	EFO	Mitochondrial disease	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314637	"" []	6151235	\N	\N	EFO	8	EFO	disease	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:314637	"" []	3191124	\N	\N	EFO	5	EFO	cardiovascular disease	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:314637	"" []	3191125	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:314637	"" []	3191126	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314637	"" []	6410140	\N	\N	EFO	9	EFO	disposition	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314637	"" []	4397851	\N	\N	EFO	6	EFO	disease	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:314637	"" []	4397852	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:314637	"" []	4397853	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314637	"" []	6807975	\N	\N	EFO	10	EFO	material property	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314637	"" []	5415240	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314637	"" []	5415241	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:314637	"" []	5415242	\N	\N	EFO	7	EFO	metabolic disease	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314637	"" []	7048700	\N	\N	EFO	11	EFO	experimental factor	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314637	"" []	6151236	\N	\N	EFO	8	EFO	disease	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Orphanet:314647	\N	\N	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	76432	\N	\N	EFO	0	EFO	Non-progressive cerebellar ataxia with intellectual disability	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:94145	Orphanet:314647	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	219402	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	574823	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	1157680	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	1157681	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	1157682	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	2040820	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	2040821	\N	\N	EFO	4	EFO	Ataxia with dementia	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	2040822	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Non-progressive cerebellar ataxia with intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	6151239	\N	\N	EFO	8	EFO	genetic disorder	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	3191128	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	3191129	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Non-progressive cerebellar ataxia with intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	6410141	\N	\N	EFO	9	EFO	disease	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	4397855	\N	\N	EFO	6	EFO	Genetic dementia	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	4397856	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	4397857	\N	\N	EFO	6	EFO	Rare genetic eye disease	Non-progressive cerebellar ataxia with intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	6807976	\N	\N	EFO	10	EFO	disposition	Non-progressive cerebellar ataxia with intellectual disability
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	5415244	\N	\N	EFO	7	EFO	brain disease	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	5415245	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Non-progressive cerebellar ataxia with intellectual disability
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	5415246	\N	\N	EFO	7	EFO	neurodegenerative disease	Non-progressive cerebellar ataxia with intellectual disability
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	5415247	\N	\N	EFO	7	EFO	brain disease	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	5415248	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Non-progressive cerebellar ataxia with intellectual disability
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	5415249	\N	\N	EFO	7	EFO	genetic disorder	Non-progressive cerebellar ataxia with intellectual disability
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	5415250	\N	\N	EFO	7	EFO	eye disease	Non-progressive cerebellar ataxia with intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	7048701	\N	\N	EFO	11	EFO	material property	Non-progressive cerebellar ataxia with intellectual disability
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	6151238	\N	\N	EFO	8	EFO	nervous system disease	Non-progressive cerebellar ataxia with intellectual disability
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	6151240	\N	\N	EFO	8	EFO	nervous system disease	Non-progressive cerebellar ataxia with intellectual disability
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	6151242	\N	\N	EFO	8	EFO	disease	Non-progressive cerebellar ataxia with intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	7190237	\N	\N	EFO	12	EFO	experimental factor	Non-progressive cerebellar ataxia with intellectual disability
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314647	"Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." []	6633555	\N	\N	EFO	9	EFO	disease	Non-progressive cerebellar ataxia with intellectual disability
Orphanet:314652	\N	\N	"#946;2M) leading to progressive gastrointestinal dysfunction, Sjgren syndrome (see this term) and autonomic neuropathy." []	Orphanet:314652	"#946;2M) leading to progressive gastrointestinal dysfunction, Sjgren syndrome (see this term) and autonomic neuropathy." []	76433	\N	\N	EFO	0	EFO	Autosomal dominant beta2-microglobulinic amyloidosis	Autosomal dominant beta2-microglobulinic amyloidosis
Orphanet:271870	Orphanet:314652	\N	"" []	Orphanet:314652	"#946;2M) leading to progressive gastrointestinal dysfunction, Sjgren syndrome (see this term) and autonomic neuropathy." []	219403	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	Autosomal dominant beta2-microglobulinic amyloidosis
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314652	"#946;2M) leading to progressive gastrointestinal dysfunction, Sjgren syndrome (see this term) and autonomic neuropathy." []	574824	\N	\N	EFO	2	EFO	genetic disorder	Autosomal dominant beta2-microglobulinic amyloidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314652	"#946;2M) leading to progressive gastrointestinal dysfunction, Sjgren syndrome (see this term) and autonomic neuropathy." []	1157683	\N	\N	EFO	3	EFO	disease	Autosomal dominant beta2-microglobulinic amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314652	"#946;2M) leading to progressive gastrointestinal dysfunction, Sjgren syndrome (see this term) and autonomic neuropathy." []	2040823	\N	\N	EFO	4	EFO	disposition	Autosomal dominant beta2-microglobulinic amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314652	"#946;2M) leading to progressive gastrointestinal dysfunction, Sjgren syndrome (see this term) and autonomic neuropathy." []	3191130	\N	\N	EFO	5	EFO	material property	Autosomal dominant beta2-microglobulinic amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314652	"#946;2M) leading to progressive gastrointestinal dysfunction, Sjgren syndrome (see this term) and autonomic neuropathy." []	4397858	\N	\N	EFO	6	EFO	experimental factor	Autosomal dominant beta2-microglobulinic amyloidosis
Orphanet:314655	\N	\N	"" []	Orphanet:314655	"" []	76434	\N	\N	EFO	0	EFO	5q31.3 microdeletion syndrome	5q31.3 microdeletion syndrome
Orphanet:102283	Orphanet:314655	\N	"" []	Orphanet:314655	"" []	219404	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	5q31.3 microdeletion syndrome
Orphanet:262038	Orphanet:314655	\N	"" []	Orphanet:314655	"" []	219405	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 5	5q31.3 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:314655	"" []	574825	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	5q31.3 microdeletion syndrome
Orphanet:261786	Orphanet:262038	\N	"" []	Orphanet:314655	"" []	574826	\N	\N	EFO	2	EFO	Partial deletion of chromosome 5	5q31.3 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:314655	"" []	1157684	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	5q31.3 microdeletion syndrome
Orphanet:98142	Orphanet:261786	\N	"" []	Orphanet:314655	"" []	1157685	\N	\N	EFO	3	EFO	Partial autosomal monosomy	5q31.3 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314655	"" []	2040824	\N	\N	EFO	4	EFO	genetic disorder	5q31.3 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:314655	"" []	2040825	\N	\N	EFO	4	EFO	Autosomal monosomy	5q31.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314655	"" []	6151244	\N	\N	EFO	8	EFO	disease	5q31.3 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:314655	"" []	3191132	\N	\N	EFO	5	EFO	Autosomal anomaly	5q31.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314655	"" []	6410142	\N	\N	EFO	9	EFO	disposition	5q31.3 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:314655	"" []	4397860	\N	\N	EFO	6	EFO	Chromosomal anomaly	5q31.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314655	"" []	6807977	\N	\N	EFO	10	EFO	material property	5q31.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314655	"" []	5415252	\N	\N	EFO	7	EFO	genetic disorder	5q31.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314655	"" []	7048702	\N	\N	EFO	11	EFO	experimental factor	5q31.3 microdeletion syndrome
Orphanet:314662	\N	\N	"" []	Orphanet:314662	"" []	76435	\N	\N	EFO	0	EFO	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Orphanet:93460	Orphanet:314662	\N	"" []	Orphanet:314662	"" []	219406	\N	\N	EFO	1	EFO	Overgrowth syndrome	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:314662	"" []	574827	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:314662	"" []	1157686	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314662	"" []	2040826	\N	\N	EFO	4	EFO	genetic disorder	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314662	"" []	3191133	\N	\N	EFO	5	EFO	disease	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314662	"" []	4397861	\N	\N	EFO	6	EFO	disposition	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314662	"" []	5415253	\N	\N	EFO	7	EFO	material property	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314662	"" []	6151245	\N	\N	EFO	8	EFO	experimental factor	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Orphanet:314667	\N	\N	"" []	Orphanet:314667	"" []	76436	\N	\N	EFO	0	EFO	TMEM165-CDG	TMEM165-CDG
Orphanet:309347	Orphanet:314667	\N	"" []	Orphanet:314667	"" []	219407	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	TMEM165-CDG
Orphanet:371047	Orphanet:314667	\N	"" []	Orphanet:314667	"" []	219408	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	TMEM165-CDG
Orphanet:371157	Orphanet:314667	\N	"" []	Orphanet:314667	"" []	219409	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	TMEM165-CDG
Orphanet:371195	Orphanet:314667	\N	"" []	Orphanet:314667	"" []	219410	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation-related bone disorder	TMEM165-CDG
Orphanet:93446	Orphanet:314667	\N	"" []	Orphanet:314667	"" []	219411	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	TMEM165-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:314667	"" []	574828	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	TMEM165-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:314667	"" []	574829	\N	\N	EFO	2	EFO	Neurometabolic disease	TMEM165-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:314667	"" []	574830	\N	\N	EFO	2	EFO	Rare metabolic liver disease	TMEM165-CDG
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:314667	"" []	574831	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	TMEM165-CDG
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:314667	"" []	574832	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	TMEM165-CDG
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:314667	"" []	574833	\N	\N	EFO	2	EFO	Primary bone dysplasia	TMEM165-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:314667	"" []	1157687	\N	\N	EFO	3	EFO	Inborn errors of metabolism	TMEM165-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:314667	"" []	1157688	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	TMEM165-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:314667	"" []	1157689	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	TMEM165-CDG
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:314667	"" []	1157690	\N	\N	EFO	3	EFO	Rare genetic bone disease	TMEM165-CDG
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:314667	"" []	1157691	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	TMEM165-CDG
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:314667	"" []	1157692	\N	\N	EFO	3	EFO	Rare genetic bone disease	TMEM165-CDG
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:314667	"" []	1157693	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	TMEM165-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314667	"" []	2040827	\N	\N	EFO	4	EFO	genetic disorder	TMEM165-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:314667	"" []	2040828	\N	\N	EFO	4	EFO	metabolic disease	TMEM165-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314667	"" []	2040829	\N	\N	EFO	4	EFO	genetic disorder	TMEM165-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:314667	"" []	2040830	\N	\N	EFO	4	EFO	digestive system disease	TMEM165-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314667	"" []	2040831	\N	\N	EFO	4	EFO	genetic disorder	TMEM165-CDG
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314667	"" []	2040832	\N	\N	EFO	4	EFO	genetic disorder	TMEM165-CDG
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:314667	"" []	2040833	\N	\N	EFO	4	EFO	bone disease	TMEM165-CDG
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:314667	"" []	2040834	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	TMEM165-CDG
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:314667	"" []	2040835	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	TMEM165-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314667	"" []	4397864	\N	\N	EFO	6	EFO	disease	TMEM165-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314667	"" []	3191135	\N	\N	EFO	5	EFO	disease	TMEM165-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314667	"" []	3191136	\N	\N	EFO	5	EFO	disease	TMEM165-CDG
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:314667	"" []	3191137	\N	\N	EFO	5	EFO	skeletal system disease	TMEM165-CDG
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314667	"" []	3191138	\N	\N	EFO	5	EFO	genetic disorder	TMEM165-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314667	"" []	5182627	\N	\N	EFO	7	EFO	disposition	TMEM165-CDG
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314667	"" []	4397863	\N	\N	EFO	6	EFO	disease	TMEM165-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314667	"" []	5998003	\N	\N	EFO	8	EFO	material property	TMEM165-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314667	"" []	6551315	\N	\N	EFO	9	EFO	experimental factor	TMEM165-CDG
Orphanet:314679	\N	\N	"" []	Orphanet:314679	"" []	76437	\N	\N	EFO	0	EFO	Cerebro-facio-articular syndrome	Cerebro-facio-articular syndrome
Orphanet:102283	Orphanet:314679	\N	"" []	Orphanet:314679	"" []	219412	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cerebro-facio-articular syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:314679	"" []	574834	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cerebro-facio-articular syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:314679	"" []	1157694	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cerebro-facio-articular syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314679	"" []	2040836	\N	\N	EFO	4	EFO	genetic disorder	Cerebro-facio-articular syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314679	"" []	3191139	\N	\N	EFO	5	EFO	disease	Cerebro-facio-articular syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314679	"" []	4397865	\N	\N	EFO	6	EFO	disposition	Cerebro-facio-articular syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314679	"" []	5415255	\N	\N	EFO	7	EFO	material property	Cerebro-facio-articular syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314679	"" []	6151247	\N	\N	EFO	8	EFO	experimental factor	Cerebro-facio-articular syndrome
Orphanet:314689	\N	\N	"" []	Orphanet:314689	"" []	76438	\N	\N	EFO	0	EFO	Combined immunodeficiency due to STK4 deficiency	Combined immunodeficiency due to STK4 deficiency
Orphanet:101972	Orphanet:314689	\N	"" []	Orphanet:314689	"" []	219413	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Combined immunodeficiency due to STK4 deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:314689	"" []	574835	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined immunodeficiency due to STK4 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:314689	"" []	1157695	\N	\N	EFO	3	EFO	Primary immunodeficiency	Combined immunodeficiency due to STK4 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:314689	"" []	2040837	\N	\N	EFO	4	EFO	Rare genetic immune disease	Combined immunodeficiency due to STK4 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314689	"" []	3191140	\N	\N	EFO	5	EFO	genetic disorder	Combined immunodeficiency due to STK4 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:314689	"" []	3191141	\N	\N	EFO	5	EFO	immune system disease	Combined immunodeficiency due to STK4 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314689	"" []	4397866	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency due to STK4 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314689	"" []	4397867	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency due to STK4 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314689	"" []	5415256	\N	\N	EFO	7	EFO	disposition	Combined immunodeficiency due to STK4 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314689	"" []	6151248	\N	\N	EFO	8	EFO	material property	Combined immunodeficiency due to STK4 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314689	"" []	6633556	\N	\N	EFO	9	EFO	experimental factor	Combined immunodeficiency due to STK4 deficiency
Orphanet:314697	\N	\N	"" []	Orphanet:314697	"" []	76439	\N	\N	EFO	0	EFO	Acquired porencephaly	Acquired porencephaly
Orphanet:2940	Orphanet:314697	\N	"" []	Orphanet:314697	"" []	219414	\N	\N	EFO	1	EFO	Porencephaly	Acquired porencephaly
Orphanet:166478	Orphanet:2940	\N	"" []	Orphanet:314697	"" []	574836	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Acquired porencephaly
Orphanet:269190	Orphanet:2940	\N	"" []	Orphanet:314697	"" []	574837	\N	\N	EFO	2	EFO	Encephaloclastic disorder	Acquired porencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:314697	"" []	1157696	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Acquired porencephaly
Orphanet:269553	Orphanet:269190	\N	"" []	Orphanet:314697	"" []	1157697	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Acquired porencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:314697	"" []	2040838	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Acquired porencephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:314697	"" []	2040839	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Acquired porencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314697	"" []	5415259	\N	\N	EFO	7	EFO	genetic disorder	Acquired porencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:314697	"" []	3191143	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Acquired porencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314697	"" []	5877325	\N	\N	EFO	8	EFO	disease	Acquired porencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:314697	"" []	4397869	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acquired porencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:314697	"" []	4397870	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Acquired porencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314697	"" []	6470565	\N	\N	EFO	9	EFO	disposition	Acquired porencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314697	"" []	5415258	\N	\N	EFO	7	EFO	genetic disorder	Acquired porencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314697	"" []	6848609	\N	\N	EFO	10	EFO	material property	Acquired porencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314697	"" []	7068488	\N	\N	EFO	11	EFO	experimental factor	Acquired porencephaly
Orphanet:314701	\N	\N	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	76440	\N	\N	EFO	0	EFO	Primary systemic amyloidosis	Primary systemic amyloidosis
Orphanet:85443	Orphanet:314701	\N	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	219415	\N	\N	EFO	1	EFO	AL amyloidosis	Primary systemic amyloidosis
EFO:1001875	Orphanet:85443	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	574838	\N	\N	EFO	2	EFO	amyloidosis	Primary systemic amyloidosis
Orphanet:99739	Orphanet:85443	\N	"" []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	574839	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Primary systemic amyloidosis
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	1157698	\N	\N	EFO	3	EFO	acquired metabolic disease	Primary systemic amyloidosis
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	1157699	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Primary systemic amyloidosis
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	2040840	\N	\N	EFO	4	EFO	metabolic disease	Primary systemic amyloidosis
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	2040841	\N	\N	EFO	4	EFO	genetic disorder	Primary systemic amyloidosis
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	2040842	\N	\N	EFO	4	EFO	heart disease	Primary systemic amyloidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	3191144	\N	\N	EFO	5	EFO	disease	Primary systemic amyloidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	3191145	\N	\N	EFO	5	EFO	disease	Primary systemic amyloidosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	3191146	\N	\N	EFO	5	EFO	cardiovascular disease	Primary systemic amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	5415261	\N	\N	EFO	7	EFO	disposition	Primary systemic amyloidosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	4397872	\N	\N	EFO	6	EFO	disease	Primary systemic amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	5998004	\N	\N	EFO	8	EFO	material property	Primary systemic amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314701	"Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." []	6551316	\N	\N	EFO	9	EFO	experimental factor	Primary systemic amyloidosis
Orphanet:314709	\N	\N	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	76441	\N	\N	EFO	0	EFO	Primary localized amyloidosis	Primary localized amyloidosis
Orphanet:85443	Orphanet:314709	\N	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	219416	\N	\N	EFO	1	EFO	AL amyloidosis	Primary localized amyloidosis
EFO:1001875	Orphanet:85443	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	574840	\N	\N	EFO	2	EFO	amyloidosis	Primary localized amyloidosis
Orphanet:99739	Orphanet:85443	\N	"" []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	574841	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Primary localized amyloidosis
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	1157700	\N	\N	EFO	3	EFO	acquired metabolic disease	Primary localized amyloidosis
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	1157701	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Primary localized amyloidosis
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	2040843	\N	\N	EFO	4	EFO	metabolic disease	Primary localized amyloidosis
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	2040844	\N	\N	EFO	4	EFO	genetic disorder	Primary localized amyloidosis
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	2040845	\N	\N	EFO	4	EFO	heart disease	Primary localized amyloidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	3191147	\N	\N	EFO	5	EFO	disease	Primary localized amyloidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	3191148	\N	\N	EFO	5	EFO	disease	Primary localized amyloidosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	3191149	\N	\N	EFO	5	EFO	cardiovascular disease	Primary localized amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	5415263	\N	\N	EFO	7	EFO	disposition	Primary localized amyloidosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	4397874	\N	\N	EFO	6	EFO	disease	Primary localized amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	5998005	\N	\N	EFO	8	EFO	material property	Primary localized amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314709	"Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." []	6551317	\N	\N	EFO	9	EFO	experimental factor	Primary localized amyloidosis
Orphanet:314718	\N	\N	"" []	Orphanet:314718	"" []	76442	\N	\N	EFO	0	EFO	Lethal arteriopathy syndrome due to fibulin-4 deficiency	Lethal arteriopathy syndrome due to fibulin-4 deficiency
Orphanet:285014	Orphanet:314718	\N	"" []	Orphanet:314718	"" []	219417	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Lethal arteriopathy syndrome due to fibulin-4 deficiency
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:314718	"" []	574842	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Lethal arteriopathy syndrome due to fibulin-4 deficiency
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314718	"" []	1157702	\N	\N	EFO	3	EFO	genetic disorder	Lethal arteriopathy syndrome due to fibulin-4 deficiency
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:314718	"" []	1157703	\N	\N	EFO	3	EFO	vascular disease	Lethal arteriopathy syndrome due to fibulin-4 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314718	"" []	2040846	\N	\N	EFO	4	EFO	disease	Lethal arteriopathy syndrome due to fibulin-4 deficiency
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:314718	"" []	2040847	\N	\N	EFO	4	EFO	cardiovascular disease	Lethal arteriopathy syndrome due to fibulin-4 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314718	"" []	4397876	\N	\N	EFO	6	EFO	disposition	Lethal arteriopathy syndrome due to fibulin-4 deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314718	"" []	3191151	\N	\N	EFO	5	EFO	disease	Lethal arteriopathy syndrome due to fibulin-4 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314718	"" []	5182628	\N	\N	EFO	7	EFO	material property	Lethal arteriopathy syndrome due to fibulin-4 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314718	"" []	5998006	\N	\N	EFO	8	EFO	experimental factor	Lethal arteriopathy syndrome due to fibulin-4 deficiency
Orphanet:314721	\N	\N	"" []	Orphanet:314721	"" []	76443	\N	\N	EFO	0	EFO	Atypical dentin dysplasia due to SMOC2 deficiency	Atypical dentin dysplasia due to SMOC2 deficiency
Orphanet:1653	Orphanet:314721	\N	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	Orphanet:314721	"" []	219418	\N	\N	EFO	1	EFO	Dentin dysplasia	Atypical dentin dysplasia due to SMOC2 deficiency
Orphanet:167759	Orphanet:1653	\N	"" []	Orphanet:314721	"" []	574843	\N	\N	EFO	2	EFO	Hereditary dentin defect	Atypical dentin dysplasia due to SMOC2 deficiency
Orphanet:164001	Orphanet:167759	\N	"" []	Orphanet:314721	"" []	1157704	\N	\N	EFO	3	EFO	Rare odontal or periodontal disorder	Atypical dentin dysplasia due to SMOC2 deficiency
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:314721	"" []	2040848	\N	\N	EFO	4	EFO	Rare genetic odontologic disease	Atypical dentin dysplasia due to SMOC2 deficiency
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314721	"" []	3191152	\N	\N	EFO	5	EFO	genetic disorder	Atypical dentin dysplasia due to SMOC2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314721	"" []	4397877	\N	\N	EFO	6	EFO	disease	Atypical dentin dysplasia due to SMOC2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314721	"" []	5415265	\N	\N	EFO	7	EFO	disposition	Atypical dentin dysplasia due to SMOC2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314721	"" []	6151252	\N	\N	EFO	8	EFO	material property	Atypical dentin dysplasia due to SMOC2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314721	"" []	6633558	\N	\N	EFO	9	EFO	experimental factor	Atypical dentin dysplasia due to SMOC2 deficiency
Orphanet:314795	\N	\N	"" []	Orphanet:314795	"" []	76444	\N	\N	EFO	0	EFO	SHOX-related short stature	SHOX-related short stature
Orphanet:93438	Orphanet:314795	\N	"" []	Orphanet:314795	"" []	219419	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	SHOX-related short stature
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:314795	"" []	574844	\N	\N	EFO	2	EFO	Primary bone dysplasia	SHOX-related short stature
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:314795	"" []	1157705	\N	\N	EFO	3	EFO	Rare genetic bone disease	SHOX-related short stature
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:314795	"" []	1157706	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	SHOX-related short stature
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314795	"" []	2040849	\N	\N	EFO	4	EFO	genetic disorder	SHOX-related short stature
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:314795	"" []	2040850	\N	\N	EFO	4	EFO	bone disease	SHOX-related short stature
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:314795	"" []	2040851	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	SHOX-related short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314795	"" []	4397880	\N	\N	EFO	6	EFO	disease	SHOX-related short stature
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:314795	"" []	3191154	\N	\N	EFO	5	EFO	skeletal system disease	SHOX-related short stature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314795	"" []	3191155	\N	\N	EFO	5	EFO	genetic disorder	SHOX-related short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314795	"" []	5182629	\N	\N	EFO	7	EFO	disposition	SHOX-related short stature
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314795	"" []	4397879	\N	\N	EFO	6	EFO	disease	SHOX-related short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314795	"" []	5998007	\N	\N	EFO	8	EFO	material property	SHOX-related short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314795	"" []	6551318	\N	\N	EFO	9	EFO	experimental factor	SHOX-related short stature
Orphanet:314802	\N	\N	"" []	Orphanet:314802	"" []	76445	\N	\N	EFO	0	EFO	Short stature due to partial GHR deficiency	Short stature due to partial GHR deficiency
Orphanet:181393	Orphanet:314802	\N	"" []	Orphanet:314802	"" []	219420	\N	\N	EFO	1	EFO	Growth hormone insensitivity syndrome	Short stature due to partial GHR deficiency
Orphanet:183628	Orphanet:181393	\N	"" []	Orphanet:314802	"" []	574845	\N	\N	EFO	2	EFO	Rare genetic hypothalamic or pituitary disease	Short stature due to partial GHR deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:314802	"" []	1157707	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Short stature due to partial GHR deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314802	"" []	2040852	\N	\N	EFO	4	EFO	genetic disorder	Short stature due to partial GHR deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:314802	"" []	2040853	\N	\N	EFO	4	EFO	endocrine system disease	Short stature due to partial GHR deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314802	"" []	3191156	\N	\N	EFO	5	EFO	disease	Short stature due to partial GHR deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314802	"" []	3191157	\N	\N	EFO	5	EFO	disease	Short stature due to partial GHR deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314802	"" []	4397881	\N	\N	EFO	6	EFO	disposition	Short stature due to partial GHR deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314802	"" []	5415267	\N	\N	EFO	7	EFO	material property	Short stature due to partial GHR deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314802	"" []	6151254	\N	\N	EFO	8	EFO	experimental factor	Short stature due to partial GHR deficiency
Orphanet:314811	\N	\N	"" []	Orphanet:314811	"" []	76446	\N	\N	EFO	0	EFO	Short stature due to GHSR deficiency	Short stature due to GHSR deficiency
Orphanet:95488	Orphanet:314811	\N	"" []	Orphanet:314811	"" []	219421	\N	\N	EFO	1	EFO	Non-acquired pituitary hormone deficiency	Short stature due to GHSR deficiency
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:314811	"" []	574846	\N	\N	EFO	2	EFO	Pituitary deficiency	Short stature due to GHSR deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:314811	"" []	1157708	\N	\N	EFO	3	EFO	Rare genetic hypothalamic or pituitary disease	Short stature due to GHSR deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:314811	"" []	2040854	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Short stature due to GHSR deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314811	"" []	3191158	\N	\N	EFO	5	EFO	genetic disorder	Short stature due to GHSR deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:314811	"" []	3191159	\N	\N	EFO	5	EFO	endocrine system disease	Short stature due to GHSR deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314811	"" []	4397882	\N	\N	EFO	6	EFO	disease	Short stature due to GHSR deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314811	"" []	4397883	\N	\N	EFO	6	EFO	disease	Short stature due to GHSR deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314811	"" []	5415268	\N	\N	EFO	7	EFO	disposition	Short stature due to GHSR deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314811	"" []	6151255	\N	\N	EFO	8	EFO	material property	Short stature due to GHSR deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314811	"" []	6633559	\N	\N	EFO	9	EFO	experimental factor	Short stature due to GHSR deficiency
Orphanet:314822	\N	\N	"" []	Orphanet:314822	"" []	76447	\N	\N	EFO	0	EFO	Primary renal tubular acidosis	Primary renal tubular acidosis
Orphanet:183592	Orphanet:314822	\N	"" []	Orphanet:314822	"" []	219422	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Primary renal tubular acidosis
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:314822	"" []	574847	\N	\N	EFO	2	EFO	Rare genetic renal disease	Primary renal tubular acidosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314822	"" []	1157709	\N	\N	EFO	3	EFO	genetic disorder	Primary renal tubular acidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314822	"" []	2040855	\N	\N	EFO	4	EFO	disease	Primary renal tubular acidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314822	"" []	3191160	\N	\N	EFO	5	EFO	disposition	Primary renal tubular acidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314822	"" []	4397884	\N	\N	EFO	6	EFO	material property	Primary renal tubular acidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314822	"" []	5415269	\N	\N	EFO	7	EFO	experimental factor	Primary renal tubular acidosis
Orphanet:314889	\N	\N	"Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." []	Orphanet:314889	"Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." []	76448	\N	\N	EFO	0	EFO	Autosomal dominant proximal renal tubular acidosis	Autosomal dominant proximal renal tubular acidosis
Orphanet:47159	Orphanet:314889	\N	"Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." []	Orphanet:314889	"Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." []	219423	\N	\N	EFO	1	EFO	Proximal renal tubular acidosis	Autosomal dominant proximal renal tubular acidosis
Orphanet:314822	Orphanet:47159	\N	"" []	Orphanet:314889	"Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." []	574848	\N	\N	EFO	2	EFO	Primary renal tubular acidosis	Autosomal dominant proximal renal tubular acidosis
Orphanet:183592	Orphanet:314822	\N	"" []	Orphanet:314889	"Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." []	1157710	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Autosomal dominant proximal renal tubular acidosis
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:314889	"Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." []	2040856	\N	\N	EFO	4	EFO	Rare genetic renal disease	Autosomal dominant proximal renal tubular acidosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314889	"Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." []	3191161	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant proximal renal tubular acidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314889	"Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." []	4397885	\N	\N	EFO	6	EFO	disease	Autosomal dominant proximal renal tubular acidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314889	"Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." []	5415270	\N	\N	EFO	7	EFO	disposition	Autosomal dominant proximal renal tubular acidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314889	"Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." []	6151256	\N	\N	EFO	8	EFO	material property	Autosomal dominant proximal renal tubular acidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314889	"Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." []	6633560	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant proximal renal tubular acidosis
Orphanet:314911	\N	\N	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	76449	\N	\N	EFO	0	EFO	Severe Canavan disease	Severe Canavan disease
Orphanet:141	Orphanet:314911	\N	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	219424	\N	\N	EFO	1	EFO	Canavan disease	Severe Canavan disease
Orphanet:183500	Orphanet:141	\N	"" []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	574849	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Severe Canavan disease
Orphanet:308448	Orphanet:141	\N	"" []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	574850	\N	\N	EFO	2	EFO	Aminoacylase deficiency	Severe Canavan disease
Orphanet:68356	Orphanet:141	\N	"" []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	574851	\N	\N	EFO	2	EFO	Leukodystrophy	Severe Canavan disease
Orphanet:68385	Orphanet:141	\N	"" []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	574852	\N	\N	EFO	2	EFO	Neurometabolic disease	Severe Canavan disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	1157711	\N	\N	EFO	3	EFO	neurodegenerative disease	Severe Canavan disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	1157712	\N	\N	EFO	3	EFO	brain disease	Severe Canavan disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	1157713	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Severe Canavan disease
Orphanet:79158	Orphanet:308448	\N	"" []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	1157714	\N	\N	EFO	3	EFO	Cerebral organic aciduria	Severe Canavan disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	1157715	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Severe Canavan disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	1157716	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Severe Canavan disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	2040857	\N	\N	EFO	4	EFO	nervous system disease	Severe Canavan disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	2040858	\N	\N	EFO	4	EFO	nervous system disease	Severe Canavan disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	2040859	\N	\N	EFO	4	EFO	genetic disorder	Severe Canavan disease
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	2040860	\N	\N	EFO	4	EFO	Organic aciduria	Severe Canavan disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	3191162	\N	\N	EFO	5	EFO	disease	Severe Canavan disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	6151258	\N	\N	EFO	8	EFO	disease	Severe Canavan disease
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	3191164	\N	\N	EFO	5	EFO	Disorder of amino acid and other organic acid metabolism	Severe Canavan disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	6410143	\N	\N	EFO	9	EFO	disposition	Severe Canavan disease
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	4397887	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Severe Canavan disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	6807978	\N	\N	EFO	10	EFO	material property	Severe Canavan disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	5415272	\N	\N	EFO	7	EFO	genetic disorder	Severe Canavan disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	5415273	\N	\N	EFO	7	EFO	metabolic disease	Severe Canavan disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	7048703	\N	\N	EFO	11	EFO	experimental factor	Severe Canavan disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314911	"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." []	6151259	\N	\N	EFO	8	EFO	disease	Severe Canavan disease
Orphanet:314918	\N	\N	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	76450	\N	\N	EFO	0	EFO	Mild Canavan disease	Mild Canavan disease
Orphanet:141	Orphanet:314918	\N	"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	219425	\N	\N	EFO	1	EFO	Canavan disease	Mild Canavan disease
Orphanet:183500	Orphanet:141	\N	"" []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	574853	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Mild Canavan disease
Orphanet:308448	Orphanet:141	\N	"" []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	574854	\N	\N	EFO	2	EFO	Aminoacylase deficiency	Mild Canavan disease
Orphanet:68356	Orphanet:141	\N	"" []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	574855	\N	\N	EFO	2	EFO	Leukodystrophy	Mild Canavan disease
Orphanet:68385	Orphanet:141	\N	"" []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	574856	\N	\N	EFO	2	EFO	Neurometabolic disease	Mild Canavan disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	1157717	\N	\N	EFO	3	EFO	neurodegenerative disease	Mild Canavan disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	1157718	\N	\N	EFO	3	EFO	brain disease	Mild Canavan disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	1157719	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Mild Canavan disease
Orphanet:79158	Orphanet:308448	\N	"" []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	1157720	\N	\N	EFO	3	EFO	Cerebral organic aciduria	Mild Canavan disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	1157721	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Mild Canavan disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	1157722	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Mild Canavan disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	2040861	\N	\N	EFO	4	EFO	nervous system disease	Mild Canavan disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	2040862	\N	\N	EFO	4	EFO	nervous system disease	Mild Canavan disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	2040863	\N	\N	EFO	4	EFO	genetic disorder	Mild Canavan disease
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	2040864	\N	\N	EFO	4	EFO	Organic aciduria	Mild Canavan disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	3191165	\N	\N	EFO	5	EFO	disease	Mild Canavan disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	6151261	\N	\N	EFO	8	EFO	disease	Mild Canavan disease
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	3191167	\N	\N	EFO	5	EFO	Disorder of amino acid and other organic acid metabolism	Mild Canavan disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	6410144	\N	\N	EFO	9	EFO	disposition	Mild Canavan disease
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	4397889	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Mild Canavan disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	6807979	\N	\N	EFO	10	EFO	material property	Mild Canavan disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	5415275	\N	\N	EFO	7	EFO	genetic disorder	Mild Canavan disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	5415276	\N	\N	EFO	7	EFO	metabolic disease	Mild Canavan disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	7048704	\N	\N	EFO	11	EFO	experimental factor	Mild Canavan disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314918	"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." []	6151262	\N	\N	EFO	8	EFO	disease	Mild Canavan disease
Orphanet:314978	\N	\N	"" []	Orphanet:314978	"" []	76451	\N	\N	EFO	0	EFO	X-linked non progressive cerebellar ataxia	X-linked non progressive cerebellar ataxia
Orphanet:247765	Orphanet:314978	\N	"" []	Orphanet:314978	"" []	219426	\N	\N	EFO	1	EFO	X-linked cerebellar ataxia	X-linked non progressive cerebellar ataxia
Orphanet:183518	Orphanet:247765	\N	"" []	Orphanet:314978	"" []	574857	\N	\N	EFO	2	EFO	Rare hereditary ataxia	X-linked non progressive cerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:314978	"" []	1157723	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked non progressive cerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314978	"" []	2040865	\N	\N	EFO	4	EFO	genetic disorder	X-linked non progressive cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314978	"" []	3191168	\N	\N	EFO	5	EFO	disease	X-linked non progressive cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314978	"" []	4397890	\N	\N	EFO	6	EFO	disposition	X-linked non progressive cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314978	"" []	5415277	\N	\N	EFO	7	EFO	material property	X-linked non progressive cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314978	"" []	6151263	\N	\N	EFO	8	EFO	experimental factor	X-linked non progressive cerebellar ataxia
Orphanet:314993	\N	\N	"" []	Orphanet:314993	"" []	76452	\N	\N	EFO	0	EFO	Cataract-congenital heart disease-neural tube defect syndrome	Cataract-congenital heart disease-neural tube defect syndrome
Orphanet:269564	Orphanet:314993	\N	"" []	Orphanet:314993	"" []	219427	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Cataract-congenital heart disease-neural tube defect syndrome
Orphanet:98641	Orphanet:314993	\N	"" []	Orphanet:314993	"" []	219428	\N	\N	EFO	1	EFO	Syndromic cataract	Cataract-congenital heart disease-neural tube defect syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:314993	"" []	574858	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Cataract-congenital heart disease-neural tube defect syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:314993	"" []	574859	\N	\N	EFO	2	EFO	Rare cataract	Cataract-congenital heart disease-neural tube defect syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:314993	"" []	1157724	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cataract-congenital heart disease-neural tube defect syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:314993	"" []	1157725	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cataract-congenital heart disease-neural tube defect syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:314993	"" []	1157726	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Cataract-congenital heart disease-neural tube defect syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314993	"" []	2040866	\N	\N	EFO	4	EFO	genetic disorder	Cataract-congenital heart disease-neural tube defect syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314993	"" []	2040867	\N	\N	EFO	4	EFO	genetic disorder	Cataract-congenital heart disease-neural tube defect syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:314993	"" []	2040868	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cataract-congenital heart disease-neural tube defect syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314993	"" []	4397892	\N	\N	EFO	6	EFO	disease	Cataract-congenital heart disease-neural tube defect syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:314993	"" []	3191170	\N	\N	EFO	5	EFO	genetic disorder	Cataract-congenital heart disease-neural tube defect syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:314993	"" []	3191171	\N	\N	EFO	5	EFO	eye disease	Cataract-congenital heart disease-neural tube defect syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:314993	"" []	5182630	\N	\N	EFO	7	EFO	disposition	Cataract-congenital heart disease-neural tube defect syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:314993	"" []	4397893	\N	\N	EFO	6	EFO	disease	Cataract-congenital heart disease-neural tube defect syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:314993	"" []	5998008	\N	\N	EFO	8	EFO	material property	Cataract-congenital heart disease-neural tube defect syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:314993	"" []	6551319	\N	\N	EFO	9	EFO	experimental factor	Cataract-congenital heart disease-neural tube defect syndrome
Orphanet:315	\N	\N	"" []	Orphanet:315	"" []	76453	\N	\N	EFO	0	EFO	Erythrokeratoderma \\"en cocardes\\"	Erythrokeratoderma \\"en cocardes\\"
Orphanet:183438	Orphanet:315	\N	"" []	Orphanet:315	"" []	219429	\N	\N	EFO	1	EFO	Genetic erythrokeratoderma	Erythrokeratoderma \\"en cocardes\\"
Orphanet:183426	Orphanet:183438	\N	"" []	Orphanet:315	"" []	574860	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Erythrokeratoderma \\"en cocardes\\"
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:315	"" []	1157727	\N	\N	EFO	3	EFO	Rare genetic skin disease	Erythrokeratoderma \\"en cocardes\\"
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:315	"" []	2040869	\N	\N	EFO	4	EFO	genetic disorder	Erythrokeratoderma \\"en cocardes\\"
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:315	"" []	2040870	\N	\N	EFO	4	EFO	skin disease	Erythrokeratoderma \\"en cocardes\\"
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:315	"" []	3191172	\N	\N	EFO	5	EFO	disease	Erythrokeratoderma \\"en cocardes\\"
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:315	"" []	3191173	\N	\N	EFO	5	EFO	disease	Erythrokeratoderma \\"en cocardes\\"
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:315	"" []	4397894	\N	\N	EFO	6	EFO	disposition	Erythrokeratoderma \\"en cocardes\\"
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:315	"" []	5415279	\N	\N	EFO	7	EFO	material property	Erythrokeratoderma \\"en cocardes\\"
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:315	"" []	6151265	\N	\N	EFO	8	EFO	experimental factor	Erythrokeratoderma \\"en cocardes\\"
Orphanet:3151	\N	\N	"" []	Orphanet:3151	"" []	76454	\N	\N	EFO	0	EFO	Multiple sclerosis - ichthyosis - factor VIII deficiency	Multiple sclerosis - ichthyosis - factor VIII deficiency
Orphanet:281244	Orphanet:3151	\N	"" []	Orphanet:3151	"" []	219430	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	Multiple sclerosis - ichthyosis - factor VIII deficiency
Orphanet:68334	Orphanet:3151	\N	"" []	Orphanet:3151	"" []	219431	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Multiple sclerosis - ichthyosis - factor VIII deficiency
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:3151	"" []	574861	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Multiple sclerosis - ichthyosis - factor VIII deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:3151	"" []	574862	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Multiple sclerosis - ichthyosis - factor VIII deficiency
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:3151	"" []	1157728	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Multiple sclerosis - ichthyosis - factor VIII deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:3151	"" []	1157729	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Multiple sclerosis - ichthyosis - factor VIII deficiency
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:3151	"" []	2040871	\N	\N	EFO	4	EFO	Inherited ichthyosis	Multiple sclerosis - ichthyosis - factor VIII deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3151	"" []	2040872	\N	\N	EFO	4	EFO	genetic disorder	Multiple sclerosis - ichthyosis - factor VIII deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:3151	"" []	2040873	\N	\N	EFO	4	EFO	hematological system disease	Multiple sclerosis - ichthyosis - factor VIII deficiency
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:3151	"" []	3191174	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Multiple sclerosis - ichthyosis - factor VIII deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3151	"" []	6151266	\N	\N	EFO	8	EFO	disease	Multiple sclerosis - ichthyosis - factor VIII deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3151	"" []	3191176	\N	\N	EFO	5	EFO	disease	Multiple sclerosis - ichthyosis - factor VIII deficiency
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:3151	"" []	4397895	\N	\N	EFO	6	EFO	Rare genetic skin disease	Multiple sclerosis - ichthyosis - factor VIII deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3151	"" []	6410145	\N	\N	EFO	9	EFO	disposition	Multiple sclerosis - ichthyosis - factor VIII deficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3151	"" []	5415280	\N	\N	EFO	7	EFO	genetic disorder	Multiple sclerosis - ichthyosis - factor VIII deficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3151	"" []	5415281	\N	\N	EFO	7	EFO	skin disease	Multiple sclerosis - ichthyosis - factor VIII deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3151	"" []	6807980	\N	\N	EFO	10	EFO	material property	Multiple sclerosis - ichthyosis - factor VIII deficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3151	"" []	6151267	\N	\N	EFO	8	EFO	disease	Multiple sclerosis - ichthyosis - factor VIII deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3151	"" []	7048705	\N	\N	EFO	11	EFO	experimental factor	Multiple sclerosis - ichthyosis - factor VIII deficiency
Orphanet:3152	\N	\N	"" []	Orphanet:3152	"" []	76455	\N	\N	EFO	0	EFO	Sclerosteosis	Sclerosteosis
Orphanet:93444	Orphanet:3152	\N	"" []	Orphanet:3152	"" []	219432	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Sclerosteosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:3152	"" []	574863	\N	\N	EFO	2	EFO	Primary bone dysplasia	Sclerosteosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3152	"" []	1157730	\N	\N	EFO	3	EFO	Rare genetic bone disease	Sclerosteosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3152	"" []	1157731	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Sclerosteosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3152	"" []	2040874	\N	\N	EFO	4	EFO	genetic disorder	Sclerosteosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3152	"" []	2040875	\N	\N	EFO	4	EFO	bone disease	Sclerosteosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3152	"" []	2040876	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sclerosteosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3152	"" []	4397899	\N	\N	EFO	6	EFO	disease	Sclerosteosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3152	"" []	3191178	\N	\N	EFO	5	EFO	skeletal system disease	Sclerosteosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3152	"" []	3191179	\N	\N	EFO	5	EFO	genetic disorder	Sclerosteosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3152	"" []	5182631	\N	\N	EFO	7	EFO	disposition	Sclerosteosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3152	"" []	4397898	\N	\N	EFO	6	EFO	disease	Sclerosteosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3152	"" []	5998009	\N	\N	EFO	8	EFO	material property	Sclerosteosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3152	"" []	6551320	\N	\N	EFO	9	EFO	experimental factor	Sclerosteosis
Orphanet:315306	\N	\N	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	76456	\N	\N	EFO	0	EFO	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:90794	Orphanet:315306	\N	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	219433	\N	\N	EFO	1	EFO	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:399994	Orphanet:90794	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	574864	\N	\N	EFO	2	EFO	Rare male infertility due to adrenal disorder of genetic origin	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:400018	Orphanet:90794	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	574865	\N	\N	EFO	2	EFO	Rare female infertility due to adrenal disorder of genetic origin	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:418	Orphanet:90794	\N	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	574866	\N	\N	EFO	2	EFO	Congenital adrenal hyperplasia	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:90776	Orphanet:90794	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	574867	\N	\N	EFO	2	EFO	46,XX disorder of sex development induced by fetal androgens excess	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:399983	Orphanet:399994	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	1157732	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:400011	Orphanet:400018	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	1157733	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:101960	Orphanet:418	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	1157734	\N	\N	EFO	3	EFO	Genetic chronic primary adrenal insufficiency	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:181412	Orphanet:418	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	1157735	\N	\N	EFO	3	EFO	Adrenogenital syndrome	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:325665	Orphanet:90776	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	1157736	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:325697	Orphanet:90776	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	1157737	\N	\N	EFO	3	EFO	Genetic 46,XX disorder of sex development	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	2040877	\N	\N	EFO	4	EFO	Rare genetic male infertility	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	2040878	\N	\N	EFO	4	EFO	Rare genetic female infertility	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	2040879	\N	\N	EFO	4	EFO	Rare genetic adrenal disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	2040880	\N	\N	EFO	4	EFO	Rare genetic adrenal disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	2040881	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	2040882	\N	\N	EFO	4	EFO	Genetic disorder of sex development	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	3191180	\N	\N	EFO	5	EFO	Genetic infertility	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	3191181	\N	\N	EFO	5	EFO	Genetic infertility	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	3191182	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	3191183	\N	\N	EFO	5	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	3191184	\N	\N	EFO	5	EFO	reproductive system disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	3191185	\N	\N	EFO	5	EFO	Rare genetic urogenital disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	3191186	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	3191187	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	4397900	\N	\N	EFO	6	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	4397901	\N	\N	EFO	6	EFO	reproductive system disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	4397902	\N	\N	EFO	6	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	4397903	\N	\N	EFO	6	EFO	endocrine system disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	5415284	\N	\N	EFO	7	EFO	disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	5415285	\N	\N	EFO	7	EFO	disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	4397906	\N	\N	EFO	6	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	4397907	\N	\N	EFO	6	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	5415286	\N	\N	EFO	7	EFO	disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	5998010	\N	\N	EFO	8	EFO	disposition	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	6551321	\N	\N	EFO	9	EFO	material property	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:315306	"The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." []	6889392	\N	\N	EFO	10	EFO	experimental factor	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Orphanet:315311	\N	\N	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	76457	\N	\N	EFO	0	EFO	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:90794	Orphanet:315311	\N	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	219434	\N	\N	EFO	1	EFO	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:399994	Orphanet:90794	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	574868	\N	\N	EFO	2	EFO	Rare male infertility due to adrenal disorder of genetic origin	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:400018	Orphanet:90794	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	574869	\N	\N	EFO	2	EFO	Rare female infertility due to adrenal disorder of genetic origin	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:418	Orphanet:90794	\N	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	574870	\N	\N	EFO	2	EFO	Congenital adrenal hyperplasia	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:90776	Orphanet:90794	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	574871	\N	\N	EFO	2	EFO	46,XX disorder of sex development induced by fetal androgens excess	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:399983	Orphanet:399994	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	1157738	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:400011	Orphanet:400018	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	1157739	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:101960	Orphanet:418	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	1157740	\N	\N	EFO	3	EFO	Genetic chronic primary adrenal insufficiency	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:181412	Orphanet:418	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	1157741	\N	\N	EFO	3	EFO	Adrenogenital syndrome	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:325665	Orphanet:90776	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	1157742	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:325697	Orphanet:90776	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	1157743	\N	\N	EFO	3	EFO	Genetic 46,XX disorder of sex development	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	2040883	\N	\N	EFO	4	EFO	Rare genetic male infertility	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	2040884	\N	\N	EFO	4	EFO	Rare genetic female infertility	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	2040885	\N	\N	EFO	4	EFO	Rare genetic adrenal disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	2040886	\N	\N	EFO	4	EFO	Rare genetic adrenal disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	2040887	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	2040888	\N	\N	EFO	4	EFO	Genetic disorder of sex development	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	3191188	\N	\N	EFO	5	EFO	Genetic infertility	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	3191189	\N	\N	EFO	5	EFO	Genetic infertility	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	3191190	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	3191191	\N	\N	EFO	5	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	3191192	\N	\N	EFO	5	EFO	reproductive system disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	3191193	\N	\N	EFO	5	EFO	Rare genetic urogenital disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	3191194	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	3191195	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	4397908	\N	\N	EFO	6	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	4397909	\N	\N	EFO	6	EFO	reproductive system disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	4397910	\N	\N	EFO	6	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	4397911	\N	\N	EFO	6	EFO	endocrine system disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	5415288	\N	\N	EFO	7	EFO	disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	5415289	\N	\N	EFO	7	EFO	disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	4397914	\N	\N	EFO	6	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	4397915	\N	\N	EFO	6	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	5415290	\N	\N	EFO	7	EFO	disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	5998011	\N	\N	EFO	8	EFO	disposition	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	6551322	\N	\N	EFO	9	EFO	material property	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:315311	"The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." []	6889393	\N	\N	EFO	10	EFO	experimental factor	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Orphanet:3156	\N	\N	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	76458	\N	\N	EFO	0	EFO	Senior-Loken syndrome	Senior-Loken syndrome
EFO:0003900	Orphanet:3156	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	219435	\N	\N	EFO	1	EFO	ciliopathy	Senior-Loken syndrome
Orphanet:93587	Orphanet:3156	\N	"" []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	219436	\N	\N	EFO	1	EFO	Familial cystic renal disease	Senior-Loken syndrome
Orphanet:98657	Orphanet:3156	\N	"" []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	219437	\N	\N	EFO	1	EFO	Genetic vitreous-retinal disease	Senior-Loken syndrome
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	574872	\N	\N	EFO	2	EFO	genetic disorder	Senior-Loken syndrome
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	574873	\N	\N	EFO	2	EFO	kidney disease	Senior-Loken syndrome
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	574874	\N	\N	EFO	2	EFO	Rare genetic renal disease	Senior-Loken syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	574875	\N	\N	EFO	2	EFO	Rare genetic eye disease	Senior-Loken syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	2040890	\N	\N	EFO	4	EFO	disease	Senior-Loken syndrome
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	1157745	\N	\N	EFO	3	EFO	disease	Senior-Loken syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	1157746	\N	\N	EFO	3	EFO	genetic disorder	Senior-Loken syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	1157747	\N	\N	EFO	3	EFO	genetic disorder	Senior-Loken syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	1157748	\N	\N	EFO	3	EFO	eye disease	Senior-Loken syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	3000300	\N	\N	EFO	5	EFO	disposition	Senior-Loken syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	2040891	\N	\N	EFO	4	EFO	disease	Senior-Loken syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	4133865	\N	\N	EFO	6	EFO	material property	Senior-Loken syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3156	"Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." []	5182632	\N	\N	EFO	7	EFO	experimental factor	Senior-Loken syndrome
Orphanet:3157	\N	\N	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	76459	\N	\N	EFO	0	EFO	Septo-optic dysplasia	Septo-optic dysplasia
Orphanet:108987	Orphanet:3157	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	219438	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Septo-optic dysplasia
Orphanet:137905	Orphanet:3157	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	219439	\N	\N	EFO	1	EFO	Syndromic optic nerve hypoplasia	Septo-optic dysplasia
Orphanet:269564	Orphanet:3157	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	219440	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Septo-optic dysplasia
Orphanet:95495	Orphanet:3157	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	219441	\N	\N	EFO	1	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Septo-optic dysplasia
Orphanet:98558	Orphanet:3157	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	219442	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	Septo-optic dysplasia
Orphanet:98692	Orphanet:3157	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	219443	\N	\N	EFO	1	EFO	Nervous system anomaly with eye involvement	Septo-optic dysplasia
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	574876	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Septo-optic dysplasia
Orphanet:98671	Orphanet:137905	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	574877	\N	\N	EFO	2	EFO	Optic neuropathy	Septo-optic dysplasia
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	574878	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Septo-optic dysplasia
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	574879	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	Septo-optic dysplasia
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	574880	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Septo-optic dysplasia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	574881	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Septo-optic dysplasia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	1157749	\N	\N	EFO	3	EFO	Rare genetic eye disease	Septo-optic dysplasia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	1157750	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Septo-optic dysplasia
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	1157751	\N	\N	EFO	3	EFO	Rare genetic eye disease	Septo-optic dysplasia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	1157752	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Septo-optic dysplasia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	1157753	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Septo-optic dysplasia
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	1157754	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Septo-optic dysplasia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	1157755	\N	\N	EFO	3	EFO	Rare genetic eye disease	Septo-optic dysplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	2040892	\N	\N	EFO	4	EFO	genetic disorder	Septo-optic dysplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	2040893	\N	\N	EFO	4	EFO	eye disease	Septo-optic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	2040894	\N	\N	EFO	4	EFO	genetic disorder	Septo-optic dysplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	2040895	\N	\N	EFO	4	EFO	genetic disorder	Septo-optic dysplasia
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	2040896	\N	\N	EFO	4	EFO	Pituitary deficiency	Septo-optic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	6151273	\N	\N	EFO	8	EFO	disease	Septo-optic dysplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	3191198	\N	\N	EFO	5	EFO	disease	Septo-optic dysplasia
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	3191199	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Septo-optic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	6410146	\N	\N	EFO	9	EFO	disposition	Septo-optic dysplasia
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	4397918	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Septo-optic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	6807981	\N	\N	EFO	10	EFO	material property	Septo-optic dysplasia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	5415293	\N	\N	EFO	7	EFO	genetic disorder	Septo-optic dysplasia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	5415294	\N	\N	EFO	7	EFO	endocrine system disease	Septo-optic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	7048706	\N	\N	EFO	11	EFO	experimental factor	Septo-optic dysplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3157	"Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." []	6151274	\N	\N	EFO	8	EFO	disease	Septo-optic dysplasia
Orphanet:316	\N	\N	"" []	Orphanet:316	"" []	76460	\N	\N	EFO	0	EFO	Progressive symmetric erythrokeratodermia	Progressive symmetric erythrokeratodermia
Orphanet:308166	Orphanet:316	\N	"" []	Orphanet:316	"" []	219444	\N	\N	EFO	1	EFO	Erythrokeratoderma variabilis progressiva	Progressive symmetric erythrokeratodermia
Orphanet:98352	Orphanet:316	\N	"" []	Orphanet:316	"" []	219445	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Progressive symmetric erythrokeratodermia
Orphanet:183438	Orphanet:308166	\N	"" []	Orphanet:316	"" []	574882	\N	\N	EFO	2	EFO	Genetic erythrokeratoderma	Progressive symmetric erythrokeratodermia
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:316	"" []	574883	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Progressive symmetric erythrokeratodermia
Orphanet:183426	Orphanet:183438	\N	"" []	Orphanet:316	"" []	1157756	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Progressive symmetric erythrokeratodermia
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:316	"" []	1157757	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Progressive symmetric erythrokeratodermia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:316	"" []	4397921	\N	\N	EFO	6	EFO	Rare genetic skin disease	Progressive symmetric erythrokeratodermia
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:316	"" []	2040898	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Progressive symmetric erythrokeratodermia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:316	"" []	5059982	\N	\N	EFO	7	EFO	genetic disorder	Progressive symmetric erythrokeratodermia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:316	"" []	5059983	\N	\N	EFO	7	EFO	skin disease	Progressive symmetric erythrokeratodermia
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:316	"" []	3191202	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Progressive symmetric erythrokeratodermia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:316	"" []	5877326	\N	\N	EFO	8	EFO	disease	Progressive symmetric erythrokeratodermia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:316	"" []	5877327	\N	\N	EFO	8	EFO	disease	Progressive symmetric erythrokeratodermia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:316	"" []	6470566	\N	\N	EFO	9	EFO	disposition	Progressive symmetric erythrokeratodermia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:316	"" []	6848610	\N	\N	EFO	10	EFO	material property	Progressive symmetric erythrokeratodermia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:316	"" []	7068489	\N	\N	EFO	11	EFO	experimental factor	Progressive symmetric erythrokeratodermia
Orphanet:316226	\N	\N	"" []	Orphanet:316226	"" []	76461	\N	\N	EFO	0	EFO	Spastic ataxia	Spastic ataxia
Orphanet:183518	Orphanet:316226	\N	"" []	Orphanet:316226	"" []	219446	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Spastic ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:316226	"" []	574884	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Spastic ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:316226	"" []	1157758	\N	\N	EFO	3	EFO	genetic disorder	Spastic ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:316226	"" []	2040899	\N	\N	EFO	4	EFO	disease	Spastic ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:316226	"" []	3191203	\N	\N	EFO	5	EFO	disposition	Spastic ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:316226	"" []	4397922	\N	\N	EFO	6	EFO	material property	Spastic ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:316226	"" []	5415296	\N	\N	EFO	7	EFO	experimental factor	Spastic ataxia
Orphanet:316235	\N	\N	"" []	Orphanet:316235	"" []	76462	\N	\N	EFO	0	EFO	Autosomal dominant spastic ataxia	Autosomal dominant spastic ataxia
Orphanet:316226	Orphanet:316235	\N	"" []	Orphanet:316235	"" []	219447	\N	\N	EFO	1	EFO	Spastic ataxia	Autosomal dominant spastic ataxia
Orphanet:183518	Orphanet:316226	\N	"" []	Orphanet:316235	"" []	574885	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal dominant spastic ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:316235	"" []	1157759	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant spastic ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:316235	"" []	2040900	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant spastic ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:316235	"" []	3191204	\N	\N	EFO	5	EFO	disease	Autosomal dominant spastic ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:316235	"" []	4397923	\N	\N	EFO	6	EFO	disposition	Autosomal dominant spastic ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:316235	"" []	5415297	\N	\N	EFO	7	EFO	material property	Autosomal dominant spastic ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:316235	"" []	6151276	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant spastic ataxia
Orphanet:316240	\N	\N	"" []	Orphanet:316240	"" []	76463	\N	\N	EFO	0	EFO	Autosomal recessive spastic ataxia	Autosomal recessive spastic ataxia
Orphanet:316226	Orphanet:316240	\N	"" []	Orphanet:316240	"" []	219448	\N	\N	EFO	1	EFO	Spastic ataxia	Autosomal recessive spastic ataxia
Orphanet:183518	Orphanet:316226	\N	"" []	Orphanet:316240	"" []	574886	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal recessive spastic ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:316240	"" []	1157760	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive spastic ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:316240	"" []	2040901	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive spastic ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:316240	"" []	3191205	\N	\N	EFO	5	EFO	disease	Autosomal recessive spastic ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:316240	"" []	4397924	\N	\N	EFO	6	EFO	disposition	Autosomal recessive spastic ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:316240	"" []	5415298	\N	\N	EFO	7	EFO	material property	Autosomal recessive spastic ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:316240	"" []	6151277	\N	\N	EFO	8	EFO	experimental factor	Autosomal recessive spastic ataxia
Orphanet:316244	\N	\N	"" []	Orphanet:316244	"" []	76464	\N	\N	EFO	0	EFO	Partial deletion of the short arm of chromosome 12	Partial deletion of the short arm of chromosome 12
Orphanet:282124	Orphanet:316244	\N	"" []	Orphanet:316244	"" []	219449	\N	\N	EFO	1	EFO	Partial deletion of chromosome 12	Partial deletion of the short arm of chromosome 12
Orphanet:98142	Orphanet:282124	\N	"" []	Orphanet:316244	"" []	574887	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Partial deletion of the short arm of chromosome 12
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:316244	"" []	1157761	\N	\N	EFO	3	EFO	Autosomal monosomy	Partial deletion of the short arm of chromosome 12
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:316244	"" []	2040902	\N	\N	EFO	4	EFO	Autosomal anomaly	Partial deletion of the short arm of chromosome 12
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:316244	"" []	3191206	\N	\N	EFO	5	EFO	Chromosomal anomaly	Partial deletion of the short arm of chromosome 12
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:316244	"" []	4397925	\N	\N	EFO	6	EFO	genetic disorder	Partial deletion of the short arm of chromosome 12
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:316244	"" []	5415299	\N	\N	EFO	7	EFO	disease	Partial deletion of the short arm of chromosome 12
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:316244	"" []	6151278	\N	\N	EFO	8	EFO	disposition	Partial deletion of the short arm of chromosome 12
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:316244	"" []	6633564	\N	\N	EFO	9	EFO	material property	Partial deletion of the short arm of chromosome 12
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:316244	"" []	6926034	\N	\N	EFO	10	EFO	experimental factor	Partial deletion of the short arm of chromosome 12
Orphanet:3163	\N	\N	"" []	Orphanet:3163	"" []	76465	\N	\N	EFO	0	EFO	SHORT syndrome	SHORT syndrome
Orphanet:108987	Orphanet:3163	\N	"" []	Orphanet:3163	"" []	219450	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	SHORT syndrome
Orphanet:181368	Orphanet:3163	\N	"" []	Orphanet:3163	"" []	219451	\N	\N	EFO	1	EFO	Rare insulin-resistance syndrome	SHORT syndrome
Orphanet:183570	Orphanet:3163	\N	"" []	Orphanet:3163	"" []	219452	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	SHORT syndrome
Orphanet:330197	Orphanet:3163	\N	"" []	Orphanet:3163	"" []	219453	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	SHORT syndrome
Orphanet:330206	Orphanet:3163	\N	"" []	Orphanet:3163	"" []	219454	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	SHORT syndrome
Orphanet:363245	Orphanet:3163	\N	"" []	Orphanet:3163	"" []	219455	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	SHORT syndrome
Orphanet:98305	Orphanet:3163	\N	"" []	Orphanet:3163	"" []	219456	\N	\N	EFO	1	EFO	Genetic lipodystrophy	SHORT syndrome
Orphanet:98622	Orphanet:3163	\N	"" []	Orphanet:3163	"" []	219457	\N	\N	EFO	1	EFO	Syndromic hyperopia	SHORT syndrome
Orphanet:98638	Orphanet:3163	\N	"" []	Orphanet:3163	"" []	219458	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	SHORT syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:3163	"" []	574888	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	SHORT syndrome
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:3163	"" []	574889	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	SHORT syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:3163	"" []	574890	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	SHORT syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:3163	"" []	574891	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	SHORT syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3163	"" []	574892	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	SHORT syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:3163	"" []	574893	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	SHORT syndrome
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:3163	"" []	574894	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	SHORT syndrome
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:3163	"" []	574895	\N	\N	EFO	2	EFO	Primary lipodystrophy	SHORT syndrome
Orphanet:98621	Orphanet:98622	\N	"" []	Orphanet:3163	"" []	574896	\N	\N	EFO	2	EFO	Rare hyperopia and astigmatism	SHORT syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:3163	"" []	574897	\N	\N	EFO	2	EFO	Rare genetic eye disease	SHORT syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:3163	"" []	1157762	\N	\N	EFO	3	EFO	Rare genetic eye disease	SHORT syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:3163	"" []	1157763	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	SHORT syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:3163	"" []	1157764	\N	\N	EFO	3	EFO	diabetes mellitus	SHORT syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:3163	"" []	1157765	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	SHORT syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3163	"" []	2040905	\N	\N	EFO	4	EFO	genetic disorder	SHORT syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3163	"" []	1157767	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	SHORT syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3163	"" []	2040907	\N	\N	EFO	4	EFO	genetic disorder	SHORT syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3163	"" []	2040908	\N	\N	EFO	4	EFO	endocrine system disease	SHORT syndrome
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:3163	"" []	1157770	\N	\N	EFO	3	EFO	Genetic subcutaneous tissue disorder	SHORT syndrome
Orphanet:183601	Orphanet:98621	\N	"" []	Orphanet:3163	"" []	1157771	\N	\N	EFO	3	EFO	Rare genetic refraction anomaly	SHORT syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3163	"" []	3191211	\N	\N	EFO	5	EFO	genetic disorder	SHORT syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3163	"" []	3191212	\N	\N	EFO	5	EFO	eye disease	SHORT syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3163	"" []	2040906	\N	\N	EFO	4	EFO	metabolic disease	SHORT syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3163	"" []	4066934	\N	\N	EFO	6	EFO	disease	SHORT syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3163	"" []	3000302	\N	\N	EFO	5	EFO	disease	SHORT syndrome
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:3163	"" []	2040911	\N	\N	EFO	4	EFO	Rare genetic skin disease	SHORT syndrome
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:3163	"" []	2040912	\N	\N	EFO	4	EFO	Rare genetic eye disease	SHORT syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3163	"" []	4066935	\N	\N	EFO	6	EFO	disease	SHORT syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3163	"" []	3191207	\N	\N	EFO	5	EFO	disease	SHORT syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3163	"" []	5059984	\N	\N	EFO	7	EFO	disposition	SHORT syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3163	"" []	3191209	\N	\N	EFO	5	EFO	genetic disorder	SHORT syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3163	"" []	3191210	\N	\N	EFO	5	EFO	skin disease	SHORT syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3163	"" []	5877328	\N	\N	EFO	8	EFO	material property	SHORT syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3163	"" []	4397927	\N	\N	EFO	6	EFO	disease	SHORT syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3163	"" []	6470567	\N	\N	EFO	9	EFO	experimental factor	SHORT syndrome
Orphanet:3164	\N	\N	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	76466	\N	\N	EFO	0	EFO	Omphalocele syndrome, Shprintzen-Goldberg type	Omphalocele syndrome, Shprintzen-Goldberg type
Orphanet:102283	Orphanet:3164	\N	"" []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	219459	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Omphalocele syndrome, Shprintzen-Goldberg type
Orphanet:183763	Orphanet:3164	\N	"" []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	219460	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Omphalocele syndrome, Shprintzen-Goldberg type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	574898	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Omphalocele syndrome, Shprintzen-Goldberg type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	574899	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Omphalocele syndrome, Shprintzen-Goldberg type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	1157774	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Omphalocele syndrome, Shprintzen-Goldberg type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	1157775	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Omphalocele syndrome, Shprintzen-Goldberg type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	2040914	\N	\N	EFO	4	EFO	genetic disorder	Omphalocele syndrome, Shprintzen-Goldberg type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	2040915	\N	\N	EFO	4	EFO	genetic disorder	Omphalocele syndrome, Shprintzen-Goldberg type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	3191213	\N	\N	EFO	5	EFO	disease	Omphalocele syndrome, Shprintzen-Goldberg type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	4397928	\N	\N	EFO	6	EFO	disposition	Omphalocele syndrome, Shprintzen-Goldberg type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	5415301	\N	\N	EFO	7	EFO	material property	Omphalocele syndrome, Shprintzen-Goldberg type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3164	"Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." []	6151279	\N	\N	EFO	8	EFO	experimental factor	Omphalocele syndrome, Shprintzen-Goldberg type
Orphanet:3166	\N	\N	"Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." []	Orphanet:3166	"Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." []	76467	\N	\N	EFO	0	EFO	Sialuria	Sialuria
Orphanet:309319	Orphanet:3166	\N	"" []	Orphanet:3166	"Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." []	219461	\N	\N	EFO	1	EFO	Disorder of sialic acid metabolism	Sialuria
Orphanet:68366	Orphanet:309319	\N	"" []	Orphanet:3166	"Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." []	574900	\N	\N	EFO	2	EFO	Lysosomal disease	Sialuria
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:3166	"Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." []	1157776	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Sialuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3166	"Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." []	2040916	\N	\N	EFO	4	EFO	genetic disorder	Sialuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3166	"Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." []	2040917	\N	\N	EFO	4	EFO	metabolic disease	Sialuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3166	"Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." []	3191214	\N	\N	EFO	5	EFO	disease	Sialuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3166	"Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." []	3191215	\N	\N	EFO	5	EFO	disease	Sialuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3166	"Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." []	4397929	\N	\N	EFO	6	EFO	disposition	Sialuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3166	"Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." []	5415302	\N	\N	EFO	7	EFO	material property	Sialuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3166	"Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." []	6151280	\N	\N	EFO	8	EFO	experimental factor	Sialuria
Orphanet:3167	\N	\N	"" []	Orphanet:3167	"" []	76468	\N	\N	EFO	0	EFO	Siegler-Brewer-Carey syndrome	Siegler-Brewer-Carey syndrome
Orphanet:156610	Orphanet:3167	\N	"" []	Orphanet:3167	"" []	219462	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Siegler-Brewer-Carey syndrome
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3167	"" []	574901	\N	\N	EFO	2	EFO	genetic disorder	Siegler-Brewer-Carey syndrome
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:3167	"" []	574902	\N	\N	EFO	2	EFO	respiratory system disease	Siegler-Brewer-Carey syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3167	"" []	1157777	\N	\N	EFO	3	EFO	disease	Siegler-Brewer-Carey syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3167	"" []	1157778	\N	\N	EFO	3	EFO	disease	Siegler-Brewer-Carey syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3167	"" []	2040918	\N	\N	EFO	4	EFO	disposition	Siegler-Brewer-Carey syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3167	"" []	3191216	\N	\N	EFO	5	EFO	material property	Siegler-Brewer-Carey syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3167	"" []	4397930	\N	\N	EFO	6	EFO	experimental factor	Siegler-Brewer-Carey syndrome
Orphanet:3168	\N	\N	"" []	Orphanet:3168	"" []	76469	\N	\N	EFO	0	EFO	Sillence syndrome	Sillence syndrome
Orphanet:294959	Orphanet:3168	\N	"" []	Orphanet:3168	"" []	219463	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Sillence syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:3168	"" []	574903	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Sillence syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:3168	"" []	574904	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Sillence syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3168	"" []	1157779	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Sillence syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3168	"" []	1157780	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Sillence syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3168	"" []	2040919	\N	\N	EFO	4	EFO	Rare genetic bone disease	Sillence syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3168	"" []	2040920	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Sillence syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3168	"" []	2040921	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sillence syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3168	"" []	3191217	\N	\N	EFO	5	EFO	genetic disorder	Sillence syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3168	"" []	3191218	\N	\N	EFO	5	EFO	bone disease	Sillence syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3168	"" []	3191219	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Sillence syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3168	"" []	4397933	\N	\N	EFO	6	EFO	genetic disorder	Sillence syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3168	"" []	5182634	\N	\N	EFO	7	EFO	disease	Sillence syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3168	"" []	4397932	\N	\N	EFO	6	EFO	skeletal system disease	Sillence syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3168	"" []	5998013	\N	\N	EFO	8	EFO	disposition	Sillence syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3168	"" []	5415304	\N	\N	EFO	7	EFO	disease	Sillence syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3168	"" []	6551323	\N	\N	EFO	9	EFO	material property	Sillence syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3168	"" []	6889394	\N	\N	EFO	10	EFO	experimental factor	Sillence syndrome
Orphanet:3169	\N	\N	"" []	Orphanet:3169	"" []	76470	\N	\N	EFO	0	EFO	Sirenomelia	Sirenomelia
Orphanet:117573	Orphanet:3169	\N	"" []	Orphanet:3169	"" []	219464	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Sirenomelia
Orphanet:404577	Orphanet:3169	\N	"" []	Orphanet:3169	"" []	219465	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Sirenomelia
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:3169	"" []	574905	\N	\N	EFO	2	EFO	Anorectal malformation	Sirenomelia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3169	"" []	574906	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Sirenomelia
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:3169	"" []	1157781	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Sirenomelia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3169	"" []	1157782	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Sirenomelia
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:3169	"" []	2040922	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sirenomelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3169	"" []	3191221	\N	\N	EFO	5	EFO	genetic disorder	Sirenomelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3169	"" []	4133867	\N	\N	EFO	6	EFO	disease	Sirenomelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3169	"" []	5182635	\N	\N	EFO	7	EFO	disposition	Sirenomelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3169	"" []	5998014	\N	\N	EFO	8	EFO	material property	Sirenomelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3169	"" []	6551324	\N	\N	EFO	9	EFO	experimental factor	Sirenomelia
Orphanet:317	\N	\N	"" []	Orphanet:317	"" []	76471	\N	\N	EFO	0	EFO	Erythrokeratodermia variabilis	Erythrokeratodermia variabilis
Orphanet:281082	Orphanet:317	\N	"" []	Orphanet:317	"" []	219466	\N	\N	EFO	1	EFO	Inherited non-syndromic ichthyosis	Erythrokeratodermia variabilis
Orphanet:308166	Orphanet:317	\N	"" []	Orphanet:317	"" []	219467	\N	\N	EFO	1	EFO	Erythrokeratoderma variabilis progressiva	Erythrokeratodermia variabilis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:317	"" []	574907	\N	\N	EFO	2	EFO	Inherited ichthyosis	Erythrokeratodermia variabilis
Orphanet:183438	Orphanet:308166	\N	"" []	Orphanet:317	"" []	574908	\N	\N	EFO	2	EFO	Genetic erythrokeratoderma	Erythrokeratodermia variabilis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:317	"" []	1157783	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Erythrokeratodermia variabilis
Orphanet:183426	Orphanet:183438	\N	"" []	Orphanet:317	"" []	1157784	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Erythrokeratodermia variabilis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:317	"" []	2040924	\N	\N	EFO	4	EFO	Rare genetic skin disease	Erythrokeratodermia variabilis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:317	"" []	3191223	\N	\N	EFO	5	EFO	genetic disorder	Erythrokeratodermia variabilis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:317	"" []	3191224	\N	\N	EFO	5	EFO	skin disease	Erythrokeratodermia variabilis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317	"" []	4397935	\N	\N	EFO	6	EFO	disease	Erythrokeratodermia variabilis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317	"" []	4397936	\N	\N	EFO	6	EFO	disease	Erythrokeratodermia variabilis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:317	"" []	5415306	\N	\N	EFO	7	EFO	disposition	Erythrokeratodermia variabilis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:317	"" []	6151283	\N	\N	EFO	8	EFO	material property	Erythrokeratodermia variabilis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:317	"" []	6633566	\N	\N	EFO	9	EFO	experimental factor	Erythrokeratodermia variabilis
Orphanet:31709	\N	\N	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	76472	\N	\N	EFO	0	EFO	Infantile convulsions and choreoathetosis	Infantile convulsions and choreoathetosis
Orphanet:1431	Orphanet:31709	\N	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	219468	\N	\N	EFO	1	EFO	Paroxysmal dyskinesia	Infantile convulsions and choreoathetosis
Orphanet:166311	Orphanet:31709	\N	"" []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	219469	\N	\N	EFO	1	EFO	Benign partial infantile seizures	Infantile convulsions and choreoathetosis
Orphanet:200037	Orphanet:1431	\N	"" []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	574909	\N	\N	EFO	2	EFO	Paroxysmal dystonia	Infantile convulsions and choreoathetosis
Orphanet:98258	Orphanet:166311	\N	"" []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	574910	\N	\N	EFO	2	EFO	Infantile epilepsy syndrome	Infantile convulsions and choreoathetosis
Orphanet:306768	Orphanet:200037	\N	"" []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	1157785	\N	\N	EFO	3	EFO	Rare paroxysmal movement disorder	Infantile convulsions and choreoathetosis
Orphanet:98203	Orphanet:200037	\N	"" []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	1157786	\N	\N	EFO	3	EFO	Combined dystonia	Infantile convulsions and choreoathetosis
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	1157787	\N	\N	EFO	3	EFO	Epilepsy syndrome	Infantile convulsions and choreoathetosis
Orphanet:183521	Orphanet:306768	\N	"" []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	2040925	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Infantile convulsions and choreoathetosis
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	2040926	\N	\N	EFO	4	EFO	Rare genetic dystonia	Infantile convulsions and choreoathetosis
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	2040927	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Infantile convulsions and choreoathetosis
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	4397939	\N	\N	EFO	6	EFO	movement disorder	Infantile convulsions and choreoathetosis
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	4397940	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Infantile convulsions and choreoathetosis
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	3191227	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Infantile convulsions and choreoathetosis
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	3191228	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Infantile convulsions and choreoathetosis
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	5182636	\N	\N	EFO	7	EFO	nervous system disease	Infantile convulsions and choreoathetosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	5182637	\N	\N	EFO	7	EFO	genetic disorder	Infantile convulsions and choreoathetosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	5998015	\N	\N	EFO	8	EFO	disease	Infantile convulsions and choreoathetosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	5998016	\N	\N	EFO	8	EFO	disease	Infantile convulsions and choreoathetosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	6551325	\N	\N	EFO	9	EFO	disposition	Infantile convulsions and choreoathetosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	6889395	\N	\N	EFO	10	EFO	material property	Infantile convulsions and choreoathetosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:31709	"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." []	7086044	\N	\N	EFO	11	EFO	experimental factor	Infantile convulsions and choreoathetosis
Orphanet:3172	\N	\N	"" []	Orphanet:3172	"" []	76473	\N	\N	EFO	0	EFO	Eyebrow duplication - syndactyly	Eyebrow duplication - syndactyly
Orphanet:294959	Orphanet:3172	\N	"" []	Orphanet:3172	"" []	219470	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Eyebrow duplication - syndactyly
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:3172	"" []	574911	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Eyebrow duplication - syndactyly
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:3172	"" []	574912	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Eyebrow duplication - syndactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3172	"" []	1157788	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Eyebrow duplication - syndactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3172	"" []	1157789	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Eyebrow duplication - syndactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3172	"" []	2040928	\N	\N	EFO	4	EFO	Rare genetic bone disease	Eyebrow duplication - syndactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3172	"" []	2040929	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Eyebrow duplication - syndactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3172	"" []	2040930	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Eyebrow duplication - syndactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3172	"" []	3191229	\N	\N	EFO	5	EFO	genetic disorder	Eyebrow duplication - syndactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3172	"" []	3191230	\N	\N	EFO	5	EFO	bone disease	Eyebrow duplication - syndactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3172	"" []	3191231	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Eyebrow duplication - syndactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3172	"" []	4397943	\N	\N	EFO	6	EFO	genetic disorder	Eyebrow duplication - syndactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3172	"" []	5182638	\N	\N	EFO	7	EFO	disease	Eyebrow duplication - syndactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3172	"" []	4397942	\N	\N	EFO	6	EFO	skeletal system disease	Eyebrow duplication - syndactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3172	"" []	5998017	\N	\N	EFO	8	EFO	disposition	Eyebrow duplication - syndactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3172	"" []	5415310	\N	\N	EFO	7	EFO	disease	Eyebrow duplication - syndactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3172	"" []	6551326	\N	\N	EFO	9	EFO	material property	Eyebrow duplication - syndactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3172	"" []	6889396	\N	\N	EFO	10	EFO	experimental factor	Eyebrow duplication - syndactyly
Orphanet:3173	\N	\N	"" []	Orphanet:3173	"" []	76474	\N	\N	EFO	0	EFO	Infantile spasms - broad thumbs	Infantile spasms - broad thumbs
Orphanet:166463	Orphanet:3173	\N	"" []	Orphanet:3173	"" []	219471	\N	\N	EFO	1	EFO	Epilepsy syndrome	Infantile spasms - broad thumbs
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:3173	"" []	574913	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Infantile spasms - broad thumbs
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:3173	"" []	1157790	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile spasms - broad thumbs
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3173	"" []	2040931	\N	\N	EFO	4	EFO	genetic disorder	Infantile spasms - broad thumbs
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3173	"" []	3191233	\N	\N	EFO	5	EFO	disease	Infantile spasms - broad thumbs
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3173	"" []	4397944	\N	\N	EFO	6	EFO	disposition	Infantile spasms - broad thumbs
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3173	"" []	5415311	\N	\N	EFO	7	EFO	material property	Infantile spasms - broad thumbs
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3173	"" []	6151286	\N	\N	EFO	8	EFO	experimental factor	Infantile spasms - broad thumbs
Orphanet:317416	\N	\N	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	76475	\N	\N	EFO	0	EFO	T-B+ severe combined immunodeficiency	T-B+ severe combined immunodeficiency
Orphanet:183660	Orphanet:317416	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	219472	\N	\N	EFO	1	EFO	Severe combined immunodeficiency	T-B+ severe combined immunodeficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	574914	\N	\N	EFO	2	EFO	Combined T and B cell immunodeficiency	T-B+ severe combined immunodeficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	1157791	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	T-B+ severe combined immunodeficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	2040932	\N	\N	EFO	4	EFO	Primary immunodeficiency	T-B+ severe combined immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	3191234	\N	\N	EFO	5	EFO	Rare genetic immune disease	T-B+ severe combined immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	4397945	\N	\N	EFO	6	EFO	genetic disorder	T-B+ severe combined immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	4397946	\N	\N	EFO	6	EFO	immune system disease	T-B+ severe combined immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	5415312	\N	\N	EFO	7	EFO	disease	T-B+ severe combined immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	5415313	\N	\N	EFO	7	EFO	disease	T-B+ severe combined immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	6151287	\N	\N	EFO	8	EFO	disposition	T-B+ severe combined immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	6633569	\N	\N	EFO	9	EFO	material property	T-B+ severe combined immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:317416	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	6926036	\N	\N	EFO	10	EFO	experimental factor	T-B+ severe combined immunodeficiency
Orphanet:317419	\N	\N	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	76476	\N	\N	EFO	0	EFO	T-B- severe combined immunodeficiency	T-B- severe combined immunodeficiency
Orphanet:183660	Orphanet:317419	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	219473	\N	\N	EFO	1	EFO	Severe combined immunodeficiency	T-B- severe combined immunodeficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	574915	\N	\N	EFO	2	EFO	Combined T and B cell immunodeficiency	T-B- severe combined immunodeficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	1157792	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	T-B- severe combined immunodeficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	2040933	\N	\N	EFO	4	EFO	Primary immunodeficiency	T-B- severe combined immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	3191235	\N	\N	EFO	5	EFO	Rare genetic immune disease	T-B- severe combined immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	4397947	\N	\N	EFO	6	EFO	genetic disorder	T-B- severe combined immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	4397948	\N	\N	EFO	6	EFO	immune system disease	T-B- severe combined immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	5415314	\N	\N	EFO	7	EFO	disease	T-B- severe combined immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	5415315	\N	\N	EFO	7	EFO	disease	T-B- severe combined immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	6151288	\N	\N	EFO	8	EFO	disposition	T-B- severe combined immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	6633570	\N	\N	EFO	9	EFO	material property	T-B- severe combined immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:317419	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	6926037	\N	\N	EFO	10	EFO	experimental factor	T-B- severe combined immunodeficiency
Orphanet:317425	\N	\N	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	76477	\N	\N	EFO	0	EFO	Severe combined immunodeficiency due to DNA-PKcs deficiency	Severe combined immunodeficiency due to DNA-PKcs deficiency
Orphanet:317419	Orphanet:317425	\N	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	219474	\N	\N	EFO	1	EFO	T-B- severe combined immunodeficiency	Severe combined immunodeficiency due to DNA-PKcs deficiency
Orphanet:183660	Orphanet:317419	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	574916	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	Severe combined immunodeficiency due to DNA-PKcs deficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	1157793	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	Severe combined immunodeficiency due to DNA-PKcs deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	2040934	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Severe combined immunodeficiency due to DNA-PKcs deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	3191236	\N	\N	EFO	5	EFO	Primary immunodeficiency	Severe combined immunodeficiency due to DNA-PKcs deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	4397949	\N	\N	EFO	6	EFO	Rare genetic immune disease	Severe combined immunodeficiency due to DNA-PKcs deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	5415316	\N	\N	EFO	7	EFO	genetic disorder	Severe combined immunodeficiency due to DNA-PKcs deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	5415317	\N	\N	EFO	7	EFO	immune system disease	Severe combined immunodeficiency due to DNA-PKcs deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	6151289	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to DNA-PKcs deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	6151290	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to DNA-PKcs deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	6633571	\N	\N	EFO	9	EFO	disposition	Severe combined immunodeficiency due to DNA-PKcs deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	6926038	\N	\N	EFO	10	EFO	material property	Severe combined immunodeficiency due to DNA-PKcs deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:317425	"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." []	7099247	\N	\N	EFO	11	EFO	experimental factor	Severe combined immunodeficiency due to DNA-PKcs deficiency
Orphanet:317428	\N	\N	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	76478	\N	\N	EFO	0	EFO	Combined immunodeficiency due to ORAI1 deficiency	Combined immunodeficiency due to ORAI1 deficiency
Orphanet:169090	Orphanet:317428	\N	" deficiency (see these terms)." []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	219475	\N	\N	EFO	1	EFO	Combined immunodeficiency due to CRAC channel dysfunction	Combined immunodeficiency due to ORAI1 deficiency
Orphanet:101972	Orphanet:169090	\N	"" []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	574917	\N	\N	EFO	2	EFO	Combined T and B cell immunodeficiency	Combined immunodeficiency due to ORAI1 deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	1157794	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined immunodeficiency due to ORAI1 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	2040935	\N	\N	EFO	4	EFO	Primary immunodeficiency	Combined immunodeficiency due to ORAI1 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	3191237	\N	\N	EFO	5	EFO	Rare genetic immune disease	Combined immunodeficiency due to ORAI1 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	4397950	\N	\N	EFO	6	EFO	genetic disorder	Combined immunodeficiency due to ORAI1 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	4397951	\N	\N	EFO	6	EFO	immune system disease	Combined immunodeficiency due to ORAI1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	5415318	\N	\N	EFO	7	EFO	disease	Combined immunodeficiency due to ORAI1 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	5415319	\N	\N	EFO	7	EFO	disease	Combined immunodeficiency due to ORAI1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	6151291	\N	\N	EFO	8	EFO	disposition	Combined immunodeficiency due to ORAI1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	6633572	\N	\N	EFO	9	EFO	material property	Combined immunodeficiency due to ORAI1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:317428	" deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." []	6926039	\N	\N	EFO	10	EFO	experimental factor	Combined immunodeficiency due to ORAI1 deficiency
Orphanet:317430	\N	\N	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	76479	\N	\N	EFO	0	EFO	Combined immunodeficiency due to STIM1 deficiency	Combined immunodeficiency due to STIM1 deficiency
Orphanet:169090	Orphanet:317430	\N	" deficiency (see these terms)." []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	219476	\N	\N	EFO	1	EFO	Combined immunodeficiency due to CRAC channel dysfunction	Combined immunodeficiency due to STIM1 deficiency
Orphanet:101972	Orphanet:169090	\N	"" []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	574918	\N	\N	EFO	2	EFO	Combined T and B cell immunodeficiency	Combined immunodeficiency due to STIM1 deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	1157795	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined immunodeficiency due to STIM1 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	2040936	\N	\N	EFO	4	EFO	Primary immunodeficiency	Combined immunodeficiency due to STIM1 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	3191238	\N	\N	EFO	5	EFO	Rare genetic immune disease	Combined immunodeficiency due to STIM1 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	4397952	\N	\N	EFO	6	EFO	genetic disorder	Combined immunodeficiency due to STIM1 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	4397953	\N	\N	EFO	6	EFO	immune system disease	Combined immunodeficiency due to STIM1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	5415320	\N	\N	EFO	7	EFO	disease	Combined immunodeficiency due to STIM1 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	5415321	\N	\N	EFO	7	EFO	disease	Combined immunodeficiency due to STIM1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	6151292	\N	\N	EFO	8	EFO	disposition	Combined immunodeficiency due to STIM1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	6633573	\N	\N	EFO	9	EFO	material property	Combined immunodeficiency due to STIM1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:317430	" deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." []	6926040	\N	\N	EFO	10	EFO	experimental factor	Combined immunodeficiency due to STIM1 deficiency
Orphanet:317473	\N	\N	"" []	Orphanet:317473	"" []	76480	\N	\N	EFO	0	EFO	Pancytopenia due to IKZF1 mutations	Pancytopenia due to IKZF1 mutations
Orphanet:101972	Orphanet:317473	\N	"" []	Orphanet:317473	"" []	219477	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Pancytopenia due to IKZF1 mutations
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:317473	"" []	574919	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Pancytopenia due to IKZF1 mutations
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:317473	"" []	1157796	\N	\N	EFO	3	EFO	Primary immunodeficiency	Pancytopenia due to IKZF1 mutations
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:317473	"" []	2040937	\N	\N	EFO	4	EFO	Rare genetic immune disease	Pancytopenia due to IKZF1 mutations
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:317473	"" []	3191239	\N	\N	EFO	5	EFO	genetic disorder	Pancytopenia due to IKZF1 mutations
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:317473	"" []	3191240	\N	\N	EFO	5	EFO	immune system disease	Pancytopenia due to IKZF1 mutations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317473	"" []	4397954	\N	\N	EFO	6	EFO	disease	Pancytopenia due to IKZF1 mutations
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317473	"" []	4397955	\N	\N	EFO	6	EFO	disease	Pancytopenia due to IKZF1 mutations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:317473	"" []	5415322	\N	\N	EFO	7	EFO	disposition	Pancytopenia due to IKZF1 mutations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:317473	"" []	6151293	\N	\N	EFO	8	EFO	material property	Pancytopenia due to IKZF1 mutations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:317473	"" []	6633574	\N	\N	EFO	9	EFO	experimental factor	Pancytopenia due to IKZF1 mutations
Orphanet:317476	\N	\N	"" []	Orphanet:317476	"" []	76481	\N	\N	EFO	0	EFO	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Orphanet:101972	Orphanet:317476	\N	"" []	Orphanet:317476	"" []	219478	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:317476	"" []	574920	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:317476	"" []	1157797	\N	\N	EFO	3	EFO	Primary immunodeficiency	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:317476	"" []	2040938	\N	\N	EFO	4	EFO	Rare genetic immune disease	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:317476	"" []	3191241	\N	\N	EFO	5	EFO	genetic disorder	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:317476	"" []	3191242	\N	\N	EFO	5	EFO	immune system disease	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317476	"" []	4397956	\N	\N	EFO	6	EFO	disease	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:317476	"" []	4397957	\N	\N	EFO	6	EFO	disease	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:317476	"" []	5415323	\N	\N	EFO	7	EFO	disposition	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:317476	"" []	6151294	\N	\N	EFO	8	EFO	material property	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:317476	"" []	6633575	\N	\N	EFO	9	EFO	experimental factor	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Orphanet:3175	\N	\N	"" []	Orphanet:3175	"" []	76482	\N	\N	EFO	0	EFO	Spasticity - intellectual disability - X-linked epilepsy	Spasticity - intellectual disability - X-linked epilepsy
Orphanet:182079	Orphanet:3175	\N	"" []	Orphanet:3175	"" []	219479	\N	\N	EFO	1	EFO	ARX-related epileptic encephalopathy	Spasticity - intellectual disability - X-linked epilepsy
Orphanet:98464	Orphanet:3175	\N	"" []	Orphanet:3175	"" []	219480	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Spasticity - intellectual disability - X-linked epilepsy
Orphanet:166472	Orphanet:182079	\N	"" []	Orphanet:3175	"" []	574921	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Spasticity - intellectual disability - X-linked epilepsy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3175	"" []	574922	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Spasticity - intellectual disability - X-linked epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:3175	"" []	1157798	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Spasticity - intellectual disability - X-linked epilepsy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3175	"" []	1157799	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Spasticity - intellectual disability - X-linked epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:3175	"" []	2040939	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spasticity - intellectual disability - X-linked epilepsy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3175	"" []	2040940	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spasticity - intellectual disability - X-linked epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3175	"" []	3191243	\N	\N	EFO	5	EFO	genetic disorder	Spasticity - intellectual disability - X-linked epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3175	"" []	4397958	\N	\N	EFO	6	EFO	disease	Spasticity - intellectual disability - X-linked epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3175	"" []	5415324	\N	\N	EFO	7	EFO	disposition	Spasticity - intellectual disability - X-linked epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3175	"" []	6151295	\N	\N	EFO	8	EFO	material property	Spasticity - intellectual disability - X-linked epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3175	"" []	6633576	\N	\N	EFO	9	EFO	experimental factor	Spasticity - intellectual disability - X-linked epilepsy
Orphanet:3176	\N	\N	"" []	Orphanet:3176	"" []	76483	\N	\N	EFO	0	EFO	Spina bifida - hypospadias	Spina bifida - hypospadias
Orphanet:165707	Orphanet:3176	\N	"" []	Orphanet:3176	"" []	219481	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Spina bifida - hypospadias
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:3176	"" []	574923	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Spina bifida - hypospadias
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:3176	"" []	1157800	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Spina bifida - hypospadias
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3176	"" []	2040941	\N	\N	EFO	4	EFO	genetic disorder	Spina bifida - hypospadias
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3176	"" []	3191244	\N	\N	EFO	5	EFO	disease	Spina bifida - hypospadias
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3176	"" []	4397959	\N	\N	EFO	6	EFO	disposition	Spina bifida - hypospadias
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3176	"" []	5415325	\N	\N	EFO	7	EFO	material property	Spina bifida - hypospadias
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3176	"" []	6151296	\N	\N	EFO	8	EFO	experimental factor	Spina bifida - hypospadias
Orphanet:3177	\N	\N	"" []	Orphanet:3177	"" []	76484	\N	\N	EFO	0	EFO	Corneal-cerebellar syndrome	Corneal-cerebellar syndrome
Orphanet:183518	Orphanet:3177	\N	"" []	Orphanet:3177	"" []	219482	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Corneal-cerebellar syndrome
Orphanet:98628	Orphanet:3177	\N	"" []	Orphanet:3177	"" []	219483	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	Corneal-cerebellar syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:3177	"" []	574924	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Corneal-cerebellar syndrome
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:3177	"" []	574925	\N	\N	EFO	2	EFO	Corneal dystrophy	Corneal-cerebellar syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3177	"" []	1157801	\N	\N	EFO	3	EFO	genetic disorder	Corneal-cerebellar syndrome
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:3177	"" []	1157802	\N	\N	EFO	3	EFO	Rare genetic eye disease	Corneal-cerebellar syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3177	"" []	3191246	\N	\N	EFO	5	EFO	disease	Corneal-cerebellar syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3177	"" []	2040943	\N	\N	EFO	4	EFO	genetic disorder	Corneal-cerebellar syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3177	"" []	2040944	\N	\N	EFO	4	EFO	eye disease	Corneal-cerebellar syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3177	"" []	4133868	\N	\N	EFO	6	EFO	disposition	Corneal-cerebellar syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3177	"" []	3191247	\N	\N	EFO	5	EFO	disease	Corneal-cerebellar syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3177	"" []	5182639	\N	\N	EFO	7	EFO	material property	Corneal-cerebellar syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3177	"" []	5998018	\N	\N	EFO	8	EFO	experimental factor	Corneal-cerebellar syndrome
Orphanet:3180	\N	\N	"" []	Orphanet:3180	"" []	76485	\N	\N	EFO	0	EFO	Spondylocamptodactyly syndrome	Spondylocamptodactyly syndrome
Orphanet:93434	Orphanet:3180	\N	"" []	Orphanet:3180	"" []	219484	\N	\N	EFO	1	EFO	Spondylodysplastic dysplasia	Spondylocamptodactyly syndrome
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:3180	"" []	574926	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylocamptodactyly syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3180	"" []	1157803	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylocamptodactyly syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3180	"" []	1157804	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylocamptodactyly syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3180	"" []	2040945	\N	\N	EFO	4	EFO	genetic disorder	Spondylocamptodactyly syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3180	"" []	2040946	\N	\N	EFO	4	EFO	bone disease	Spondylocamptodactyly syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3180	"" []	2040947	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylocamptodactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3180	"" []	4397963	\N	\N	EFO	6	EFO	disease	Spondylocamptodactyly syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3180	"" []	3191249	\N	\N	EFO	5	EFO	skeletal system disease	Spondylocamptodactyly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3180	"" []	3191250	\N	\N	EFO	5	EFO	genetic disorder	Spondylocamptodactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3180	"" []	5182640	\N	\N	EFO	7	EFO	disposition	Spondylocamptodactyly syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3180	"" []	4397962	\N	\N	EFO	6	EFO	disease	Spondylocamptodactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3180	"" []	5998019	\N	\N	EFO	8	EFO	material property	Spondylocamptodactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3180	"" []	6551327	\N	\N	EFO	9	EFO	experimental factor	Spondylocamptodactyly syndrome
Orphanet:31837	\N	\N	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	76486	\N	\N	EFO	0	EFO	Pulmonary venoocclusive disease	Pulmonary venoocclusive disease
EFO:0001361	Orphanet:31837	\N	"Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	219485	\N	\N	EFO	1	EFO	pulmonary hypertension	Pulmonary venoocclusive disease
Orphanet:156610	Orphanet:31837	\N	"" []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	219486	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Pulmonary venoocclusive disease
EFO:0000537	EFO:0001361	\N	"Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	574927	\N	\N	EFO	2	EFO	hypertension	Pulmonary venoocclusive disease
EFO:0004264	EFO:0001361	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	574928	\N	\N	EFO	2	EFO	vascular disease	Pulmonary venoocclusive disease
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	574929	\N	\N	EFO	2	EFO	genetic disorder	Pulmonary venoocclusive disease
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	574930	\N	\N	EFO	2	EFO	respiratory system disease	Pulmonary venoocclusive disease
EFO:0000319	EFO:0000537	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	1157805	\N	\N	EFO	3	EFO	cardiovascular disease	Pulmonary venoocclusive disease
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	1157806	\N	\N	EFO	3	EFO	cardiovascular disease	Pulmonary venoocclusive disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	1157807	\N	\N	EFO	3	EFO	disease	Pulmonary venoocclusive disease
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	1157808	\N	\N	EFO	3	EFO	disease	Pulmonary venoocclusive disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	2040948	\N	\N	EFO	4	EFO	disease	Pulmonary venoocclusive disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	3191251	\N	\N	EFO	5	EFO	disposition	Pulmonary venoocclusive disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	4133869	\N	\N	EFO	6	EFO	material property	Pulmonary venoocclusive disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:31837	"Pulmonary veno-occlusive disease (PVOD) (also referred to as pulmonary capillary hemangiomatosis) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." []	5182641	\N	\N	EFO	7	EFO	experimental factor	Pulmonary venoocclusive disease
Orphanet:3184	\N	\N	"" []	Orphanet:3184	"" []	76487	\N	\N	EFO	0	EFO	Steatocystoma multiplex - natal teeth	Steatocystoma multiplex - natal teeth
Orphanet:183460	Orphanet:3184	\N	"" []	Orphanet:3184	"" []	219487	\N	\N	EFO	1	EFO	Genetic sebaceous gland anomaly	Steatocystoma multiplex - natal teeth
Orphanet:183580	Orphanet:3184	\N	"" []	Orphanet:3184	"" []	219488	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Steatocystoma multiplex - natal teeth
Orphanet:183447	Orphanet:183460	\N	"" []	Orphanet:3184	"" []	574931	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Steatocystoma multiplex - natal teeth
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:3184	"" []	574932	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Steatocystoma multiplex - natal teeth
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3184	"" []	1157809	\N	\N	EFO	3	EFO	Rare genetic skin disease	Steatocystoma multiplex - natal teeth
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3184	"" []	1157810	\N	\N	EFO	3	EFO	genetic disorder	Steatocystoma multiplex - natal teeth
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3184	"" []	2040950	\N	\N	EFO	4	EFO	genetic disorder	Steatocystoma multiplex - natal teeth
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3184	"" []	2040951	\N	\N	EFO	4	EFO	skin disease	Steatocystoma multiplex - natal teeth
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3184	"" []	3191253	\N	\N	EFO	5	EFO	disease	Steatocystoma multiplex - natal teeth
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3184	"" []	3191254	\N	\N	EFO	5	EFO	disease	Steatocystoma multiplex - natal teeth
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3184	"" []	4133870	\N	\N	EFO	6	EFO	disposition	Steatocystoma multiplex - natal teeth
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3184	"" []	5182642	\N	\N	EFO	7	EFO	material property	Steatocystoma multiplex - natal teeth
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3184	"" []	5998020	\N	\N	EFO	8	EFO	experimental factor	Steatocystoma multiplex - natal teeth
Orphanet:3186	\N	\N	"" []	Orphanet:3186	"" []	76488	\N	\N	EFO	0	EFO	Holoprosencephaly - radial heart renal anomalies	Holoprosencephaly - radial heart renal anomalies
Orphanet:102283	Orphanet:3186	\N	"" []	Orphanet:3186	"" []	219489	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Holoprosencephaly - radial heart renal anomalies
Orphanet:183763	Orphanet:3186	\N	"" []	Orphanet:3186	"" []	219490	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Holoprosencephaly - radial heart renal anomalies
Orphanet:93547	Orphanet:3186	\N	"" []	Orphanet:3186	"" []	219491	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Holoprosencephaly - radial heart renal anomalies
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3186	"" []	574933	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Holoprosencephaly - radial heart renal anomalies
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3186	"" []	574934	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Holoprosencephaly - radial heart renal anomalies
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:3186	"" []	574935	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Holoprosencephaly - radial heart renal anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3186	"" []	1157811	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Holoprosencephaly - radial heart renal anomalies
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3186	"" []	1157812	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Holoprosencephaly - radial heart renal anomalies
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:3186	"" []	1157813	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Holoprosencephaly - radial heart renal anomalies
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:3186	"" []	1157814	\N	\N	EFO	3	EFO	Rare genetic renal disease	Holoprosencephaly - radial heart renal anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3186	"" []	2040953	\N	\N	EFO	4	EFO	genetic disorder	Holoprosencephaly - radial heart renal anomalies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3186	"" []	2040954	\N	\N	EFO	4	EFO	genetic disorder	Holoprosencephaly - radial heart renal anomalies
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3186	"" []	2040955	\N	\N	EFO	4	EFO	genetic disorder	Holoprosencephaly - radial heart renal anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3186	"" []	3191256	\N	\N	EFO	5	EFO	disease	Holoprosencephaly - radial heart renal anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3186	"" []	4397966	\N	\N	EFO	6	EFO	disposition	Holoprosencephaly - radial heart renal anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3186	"" []	5415329	\N	\N	EFO	7	EFO	material property	Holoprosencephaly - radial heart renal anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3186	"" []	6151298	\N	\N	EFO	8	EFO	experimental factor	Holoprosencephaly - radial heart renal anomalies
Orphanet:3191	\N	\N	"" []	Orphanet:3191	"" []	76489	\N	\N	EFO	0	EFO	Subaortic stenosis - short stature	Subaortic stenosis - short stature
Orphanet:98628	Orphanet:3191	\N	"" []	Orphanet:3191	"" []	219492	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	Subaortic stenosis - short stature
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:3191	"" []	574936	\N	\N	EFO	2	EFO	Corneal dystrophy	Subaortic stenosis - short stature
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:3191	"" []	1157815	\N	\N	EFO	3	EFO	Rare genetic eye disease	Subaortic stenosis - short stature
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3191	"" []	2040956	\N	\N	EFO	4	EFO	genetic disorder	Subaortic stenosis - short stature
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3191	"" []	2040957	\N	\N	EFO	4	EFO	eye disease	Subaortic stenosis - short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3191	"" []	3191257	\N	\N	EFO	5	EFO	disease	Subaortic stenosis - short stature
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3191	"" []	3191258	\N	\N	EFO	5	EFO	disease	Subaortic stenosis - short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3191	"" []	4397967	\N	\N	EFO	6	EFO	disposition	Subaortic stenosis - short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3191	"" []	5415330	\N	\N	EFO	7	EFO	material property	Subaortic stenosis - short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3191	"" []	6151299	\N	\N	EFO	8	EFO	experimental factor	Subaortic stenosis - short stature
Orphanet:319160	\N	\N	"" []	Orphanet:319160	"" []	76490	\N	\N	EFO	0	EFO	Congenital myopathy with internal nuclei and atypical cores	Congenital myopathy with internal nuclei and atypical cores
Orphanet:172976	Orphanet:319160	\N	"" []	Orphanet:319160	"" []	219493	\N	\N	EFO	1	EFO	Congenital myopathy with cores	Congenital myopathy with internal nuclei and atypical cores
Orphanet:97245	Orphanet:172976	\N	"" []	Orphanet:319160	"" []	574937	\N	\N	EFO	2	EFO	Congenital myopathy	Congenital myopathy with internal nuclei and atypical cores
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:319160	"" []	1157816	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Congenital myopathy with internal nuclei and atypical cores
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:319160	"" []	2040958	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Congenital myopathy with internal nuclei and atypical cores
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:319160	"" []	3191259	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Congenital myopathy with internal nuclei and atypical cores
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:319160	"" []	4397968	\N	\N	EFO	6	EFO	muscular disease	Congenital myopathy with internal nuclei and atypical cores
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:319160	"" []	4397969	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Congenital myopathy with internal nuclei and atypical cores
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:319160	"" []	5415331	\N	\N	EFO	7	EFO	skeletal system disease	Congenital myopathy with internal nuclei and atypical cores
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319160	"" []	5415332	\N	\N	EFO	7	EFO	genetic disorder	Congenital myopathy with internal nuclei and atypical cores
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319160	"" []	6151300	\N	\N	EFO	8	EFO	disease	Congenital myopathy with internal nuclei and atypical cores
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319160	"" []	6151301	\N	\N	EFO	8	EFO	disease	Congenital myopathy with internal nuclei and atypical cores
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319160	"" []	6633577	\N	\N	EFO	9	EFO	disposition	Congenital myopathy with internal nuclei and atypical cores
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319160	"" []	6926041	\N	\N	EFO	10	EFO	material property	Congenital myopathy with internal nuclei and atypical cores
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319160	"" []	7099248	\N	\N	EFO	11	EFO	experimental factor	Congenital myopathy with internal nuclei and atypical cores
Orphanet:319171	\N	\N	"" []	Orphanet:319171	"" []	76491	\N	\N	EFO	0	EFO	Distal 17p13.1 microdeletion syndrome	Distal 17p13.1 microdeletion syndrome
Orphanet:102283	Orphanet:319171	\N	"" []	Orphanet:319171	"" []	219494	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Distal 17p13.1 microdeletion syndrome
Orphanet:183763	Orphanet:319171	\N	"" []	Orphanet:319171	"" []	219495	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Distal 17p13.1 microdeletion syndrome
Orphanet:261965	Orphanet:319171	\N	"" []	Orphanet:319171	"" []	219496	\N	\N	EFO	1	EFO	Partial monosomy of the short arm of chromosome 17	Distal 17p13.1 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:319171	"" []	574938	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Distal 17p13.1 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:319171	"" []	574939	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Distal 17p13.1 microdeletion syndrome
Orphanet:261831	Orphanet:261965	\N	"" []	Orphanet:319171	"" []	574940	\N	\N	EFO	2	EFO	Partial deletion of chromosome 17	Distal 17p13.1 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:319171	"" []	1157817	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Distal 17p13.1 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:319171	"" []	1157818	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Distal 17p13.1 microdeletion syndrome
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:319171	"" []	1157819	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal 17p13.1 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319171	"" []	2040959	\N	\N	EFO	4	EFO	genetic disorder	Distal 17p13.1 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319171	"" []	2040960	\N	\N	EFO	4	EFO	genetic disorder	Distal 17p13.1 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:319171	"" []	2040961	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal 17p13.1 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319171	"" []	6151303	\N	\N	EFO	8	EFO	disease	Distal 17p13.1 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:319171	"" []	3191261	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal 17p13.1 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319171	"" []	6410147	\N	\N	EFO	9	EFO	disposition	Distal 17p13.1 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:319171	"" []	4397971	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal 17p13.1 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319171	"" []	6807982	\N	\N	EFO	10	EFO	material property	Distal 17p13.1 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319171	"" []	5415334	\N	\N	EFO	7	EFO	genetic disorder	Distal 17p13.1 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319171	"" []	7048707	\N	\N	EFO	11	EFO	experimental factor	Distal 17p13.1 microdeletion syndrome
Orphanet:319182	\N	\N	"" []	Orphanet:319182	"" []	76492	\N	\N	EFO	0	EFO	Wiedemann-Steiner syndrome	Wiedemann-Steiner syndrome
Orphanet:102283	Orphanet:319182	\N	"" []	Orphanet:319182	"" []	219497	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Wiedemann-Steiner syndrome
Orphanet:183763	Orphanet:319182	\N	"" []	Orphanet:319182	"" []	219498	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Wiedemann-Steiner syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:319182	"" []	574941	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Wiedemann-Steiner syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:319182	"" []	574942	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Wiedemann-Steiner syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:319182	"" []	1157820	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Wiedemann-Steiner syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:319182	"" []	1157821	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Wiedemann-Steiner syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319182	"" []	2040962	\N	\N	EFO	4	EFO	genetic disorder	Wiedemann-Steiner syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319182	"" []	2040963	\N	\N	EFO	4	EFO	genetic disorder	Wiedemann-Steiner syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319182	"" []	3191262	\N	\N	EFO	5	EFO	disease	Wiedemann-Steiner syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319182	"" []	4397972	\N	\N	EFO	6	EFO	disposition	Wiedemann-Steiner syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319182	"" []	5415335	\N	\N	EFO	7	EFO	material property	Wiedemann-Steiner syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319182	"" []	6151304	\N	\N	EFO	8	EFO	experimental factor	Wiedemann-Steiner syndrome
Orphanet:319189	\N	\N	"" []	Orphanet:319189	"" []	76493	\N	\N	EFO	0	EFO	Familial cortical myoclonus	Familial cortical myoclonus
Orphanet:306750	Orphanet:319189	\N	"" []	Orphanet:319189	"" []	219499	\N	\N	EFO	1	EFO	Primary myoclonus	Familial cortical myoclonus
Orphanet:307064	Orphanet:306750	\N	"" []	Orphanet:319189	"" []	574943	\N	\N	EFO	2	EFO	Rare genetic myoclonus	Familial cortical myoclonus
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:319189	"" []	1157822	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Familial cortical myoclonus
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:319189	"" []	2040964	\N	\N	EFO	4	EFO	movement disorder	Familial cortical myoclonus
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:319189	"" []	2040965	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Familial cortical myoclonus
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:319189	"" []	3191263	\N	\N	EFO	5	EFO	nervous system disease	Familial cortical myoclonus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319189	"" []	3191264	\N	\N	EFO	5	EFO	genetic disorder	Familial cortical myoclonus
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319189	"" []	4397973	\N	\N	EFO	6	EFO	disease	Familial cortical myoclonus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319189	"" []	4397974	\N	\N	EFO	6	EFO	disease	Familial cortical myoclonus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319189	"" []	5415336	\N	\N	EFO	7	EFO	disposition	Familial cortical myoclonus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319189	"" []	6151305	\N	\N	EFO	8	EFO	material property	Familial cortical myoclonus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319189	"" []	6633578	\N	\N	EFO	9	EFO	experimental factor	Familial cortical myoclonus
Orphanet:319192	\N	\N	"" []	Orphanet:319192	"" []	76494	\N	\N	EFO	0	EFO	Diencephalic-mesencephalic junction dysplasia	Diencephalic-mesencephalic junction dysplasia
Orphanet:269553	Orphanet:319192	\N	"" []	Orphanet:319192	"" []	219500	\N	\N	EFO	1	EFO	Genetic cerebral malformation	Diencephalic-mesencephalic junction dysplasia
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:319192	"" []	574944	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Diencephalic-mesencephalic junction dysplasia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:319192	"" []	1157823	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Diencephalic-mesencephalic junction dysplasia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:319192	"" []	2040966	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Diencephalic-mesencephalic junction dysplasia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:319192	"" []	2040967	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Diencephalic-mesencephalic junction dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319192	"" []	3191265	\N	\N	EFO	5	EFO	genetic disorder	Diencephalic-mesencephalic junction dysplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319192	"" []	3191266	\N	\N	EFO	5	EFO	genetic disorder	Diencephalic-mesencephalic junction dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319192	"" []	4397975	\N	\N	EFO	6	EFO	disease	Diencephalic-mesencephalic junction dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319192	"" []	5415337	\N	\N	EFO	7	EFO	disposition	Diencephalic-mesencephalic junction dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319192	"" []	6151306	\N	\N	EFO	8	EFO	material property	Diencephalic-mesencephalic junction dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319192	"" []	6633579	\N	\N	EFO	9	EFO	experimental factor	Diencephalic-mesencephalic junction dysplasia
Orphanet:319195	\N	\N	"" []	Orphanet:319195	"" []	76495	\N	\N	EFO	0	EFO	Chondroectodermal dysplasia with night blindness	Chondroectodermal dysplasia with night blindness
Orphanet:101435	Orphanet:319195	\N	"" []	Orphanet:319195	"" []	219501	\N	\N	EFO	1	EFO	Rare genetic eye disease	Chondroectodermal dysplasia with night blindness
Orphanet:79373	Orphanet:319195	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:319195	"" []	219502	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Chondroectodermal dysplasia with night blindness
Orphanet:93446	Orphanet:319195	\N	"" []	Orphanet:319195	"" []	219503	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Chondroectodermal dysplasia with night blindness
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319195	"" []	574945	\N	\N	EFO	2	EFO	genetic disorder	Chondroectodermal dysplasia with night blindness
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:319195	"" []	574946	\N	\N	EFO	2	EFO	eye disease	Chondroectodermal dysplasia with night blindness
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:319195	"" []	574947	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Chondroectodermal dysplasia with night blindness
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:319195	"" []	574948	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Chondroectodermal dysplasia with night blindness
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:319195	"" []	574949	\N	\N	EFO	2	EFO	Primary bone dysplasia	Chondroectodermal dysplasia with night blindness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319195	"" []	4133871	\N	\N	EFO	6	EFO	disease	Chondroectodermal dysplasia with night blindness
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319195	"" []	1157825	\N	\N	EFO	3	EFO	disease	Chondroectodermal dysplasia with night blindness
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:319195	"" []	1157826	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Chondroectodermal dysplasia with night blindness
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:319195	"" []	1157827	\N	\N	EFO	3	EFO	Rare genetic skin disease	Chondroectodermal dysplasia with night blindness
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:319195	"" []	1157828	\N	\N	EFO	3	EFO	Rare genetic bone disease	Chondroectodermal dysplasia with night blindness
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:319195	"" []	1157829	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Chondroectodermal dysplasia with night blindness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319195	"" []	5028439	\N	\N	EFO	7	EFO	disposition	Chondroectodermal dysplasia with night blindness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319195	"" []	3191271	\N	\N	EFO	5	EFO	genetic disorder	Chondroectodermal dysplasia with night blindness
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319195	"" []	2040970	\N	\N	EFO	4	EFO	genetic disorder	Chondroectodermal dysplasia with night blindness
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:319195	"" []	2040971	\N	\N	EFO	4	EFO	skin disease	Chondroectodermal dysplasia with night blindness
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319195	"" []	2040972	\N	\N	EFO	4	EFO	genetic disorder	Chondroectodermal dysplasia with night blindness
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:319195	"" []	2040973	\N	\N	EFO	4	EFO	bone disease	Chondroectodermal dysplasia with night blindness
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:319195	"" []	2040974	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Chondroectodermal dysplasia with night blindness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319195	"" []	5817700	\N	\N	EFO	8	EFO	material property	Chondroectodermal dysplasia with night blindness
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319195	"" []	3191269	\N	\N	EFO	5	EFO	disease	Chondroectodermal dysplasia with night blindness
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:319195	"" []	3191270	\N	\N	EFO	5	EFO	skeletal system disease	Chondroectodermal dysplasia with night blindness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319195	"" []	6410148	\N	\N	EFO	9	EFO	experimental factor	Chondroectodermal dysplasia with night blindness
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319195	"" []	4397977	\N	\N	EFO	6	EFO	disease	Chondroectodermal dysplasia with night blindness
Orphanet:319199	\N	\N	"" []	Orphanet:319199	"" []	76496	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 53	Autosomal recessive spastic paraplegia type 53
Orphanet:100981	Orphanet:319199	\N	"" []	Orphanet:319199	"" []	219504	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 53
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:319199	"" []	574950	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 53
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:319199	"" []	1157830	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 53
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:319199	"" []	2040975	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 53
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:319199	"" []	3191272	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 53
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:319199	"" []	3191273	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 53
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:319199	"" []	3191274	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 53
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:319199	"" []	4397978	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 53
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:319199	"" []	4397979	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 53
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319199	"" []	4397980	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 53
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319199	"" []	5415338	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 53
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319199	"" []	5415339	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 53
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319199	"" []	6151307	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 53
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319199	"" []	6633580	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 53
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319199	"" []	6926042	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 53
Orphanet:3193	\N	\N	"" []	Orphanet:3193	"" []	76497	\N	\N	EFO	0	EFO	Supravalvular aortic stenosis	Supravalvular aortic stenosis
Orphanet:271853	Orphanet:3193	\N	"" []	Orphanet:3193	"" []	219505	\N	\N	EFO	1	EFO	Genetic cardiac anomaly	Supravalvular aortic stenosis
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:3193	"" []	574951	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Supravalvular aortic stenosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3193	"" []	1157831	\N	\N	EFO	3	EFO	genetic disorder	Supravalvular aortic stenosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3193	"" []	2040976	\N	\N	EFO	4	EFO	disease	Supravalvular aortic stenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3193	"" []	3191275	\N	\N	EFO	5	EFO	disposition	Supravalvular aortic stenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3193	"" []	4397981	\N	\N	EFO	6	EFO	material property	Supravalvular aortic stenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3193	"" []	5415340	\N	\N	EFO	7	EFO	experimental factor	Supravalvular aortic stenosis
Orphanet:319328	\N	\N	"" []	Orphanet:319328	"" []	76498	\N	\N	EFO	0	EFO	Inherited renal cancer-predisposing syndrome	Inherited renal cancer-predisposing syndrome
Orphanet:140162	Orphanet:319328	\N	"" []	Orphanet:319328	"" []	219506	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Inherited renal cancer-predisposing syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319328	"" []	574952	\N	\N	EFO	2	EFO	genetic disorder	Inherited renal cancer-predisposing syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319328	"" []	1157832	\N	\N	EFO	3	EFO	disease	Inherited renal cancer-predisposing syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319328	"" []	2040977	\N	\N	EFO	4	EFO	disposition	Inherited renal cancer-predisposing syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319328	"" []	3191276	\N	\N	EFO	5	EFO	material property	Inherited renal cancer-predisposing syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319328	"" []	4397982	\N	\N	EFO	6	EFO	experimental factor	Inherited renal cancer-predisposing syndrome
Orphanet:319332	\N	\N	"" []	Orphanet:319332	"" []	76499	\N	\N	EFO	0	EFO	Autosomal recessive myogenic arthrogryposis multiplex congenita	Autosomal recessive myogenic arthrogryposis multiplex congenita
Orphanet:1037	Orphanet:319332	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:319332	"" []	219507	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Autosomal recessive myogenic arthrogryposis multiplex congenita
Orphanet:97242	Orphanet:319332	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:319332	"" []	219508	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Autosomal recessive myogenic arthrogryposis multiplex congenita
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:319332	"" []	574953	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Autosomal recessive myogenic arthrogryposis multiplex congenita
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:319332	"" []	574954	\N	\N	EFO	2	EFO	Muscular dystrophy	Autosomal recessive myogenic arthrogryposis multiplex congenita
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:319332	"" []	1157833	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Autosomal recessive myogenic arthrogryposis multiplex congenita
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:319332	"" []	1157834	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Autosomal recessive myogenic arthrogryposis multiplex congenita
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:319332	"" []	2040978	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Autosomal recessive myogenic arthrogryposis multiplex congenita
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:319332	"" []	2040979	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal recessive myogenic arthrogryposis multiplex congenita
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:319332	"" []	3191277	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive myogenic arthrogryposis multiplex congenita
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:319332	"" []	3191278	\N	\N	EFO	5	EFO	muscular disease	Autosomal recessive myogenic arthrogryposis multiplex congenita
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:319332	"" []	3191279	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive myogenic arthrogryposis multiplex congenita
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319332	"" []	4397983	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive myogenic arthrogryposis multiplex congenita
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:319332	"" []	4397984	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal recessive myogenic arthrogryposis multiplex congenita
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319332	"" []	4397985	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive myogenic arthrogryposis multiplex congenita
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319332	"" []	5415341	\N	\N	EFO	7	EFO	disease	Autosomal recessive myogenic arthrogryposis multiplex congenita
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319332	"" []	5415342	\N	\N	EFO	7	EFO	disease	Autosomal recessive myogenic arthrogryposis multiplex congenita
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319332	"" []	6151308	\N	\N	EFO	8	EFO	disposition	Autosomal recessive myogenic arthrogryposis multiplex congenita
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319332	"" []	6633581	\N	\N	EFO	9	EFO	material property	Autosomal recessive myogenic arthrogryposis multiplex congenita
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319332	"" []	6926043	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive myogenic arthrogryposis multiplex congenita
Orphanet:319340	\N	\N	"" []	Orphanet:319340	"" []	76500	\N	\N	EFO	0	EFO	Carney complex-trismus-pseudocamptodactyly syndrome	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0003820	Orphanet:319340	\N	"Tumors or cancer located in bone tissue or specific BONES." []	Orphanet:319340	"" []	219509	\N	\N	EFO	1	EFO	bone neoplasm	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0004198	Orphanet:319340	\N	"Tumors or cancer of the SKIN." []	Orphanet:319340	"" []	219510	\N	\N	EFO	1	EFO	skin neoplasm	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:183466	Orphanet:319340	\N	"" []	Orphanet:319340	"" []	219511	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:228184	Orphanet:319340	\N	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	Orphanet:319340	"" []	219512	\N	\N	EFO	1	EFO	Heart-hand syndrome	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:271841	Orphanet:319340	\N	"" []	Orphanet:319340	"" []	219513	\N	\N	EFO	1	EFO	Genetic cardiac tumor	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:319340	"" []	574955	\N	\N	EFO	2	EFO	neoplasm	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:319340	"" []	574956	\N	\N	EFO	2	EFO	neoplasm	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:319340	"" []	574957	\N	\N	EFO	2	EFO	skin disease	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:319340	"" []	574958	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:404571	Orphanet:228184	\N	"" []	Orphanet:319340	"" []	574959	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:404577	Orphanet:228184	\N	"" []	Orphanet:319340	"" []	574960	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0003777	Orphanet:271841	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:319340	"" []	574961	\N	\N	EFO	2	EFO	heart disease	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:68336	Orphanet:271841	\N	"" []	Orphanet:319340	"" []	574962	\N	\N	EFO	2	EFO	Rare genetic tumor	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319340	"" []	2040988	\N	\N	EFO	4	EFO	disease	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319340	"" []	3191282	\N	\N	EFO	5	EFO	disease	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:319340	"" []	1157837	\N	\N	EFO	3	EFO	Rare genetic skin disease	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:319340	"" []	1157838	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:319340	"" []	1157839	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:319340	"" []	1157840	\N	\N	EFO	3	EFO	cardiovascular disease	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319340	"" []	1157841	\N	\N	EFO	3	EFO	genetic disorder	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:319340	"" []	1157842	\N	\N	EFO	3	EFO	neoplasm	Carney complex-trismus-pseudocamptodactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319340	"" []	5817702	\N	\N	EFO	8	EFO	disposition	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319340	"" []	2040981	\N	\N	EFO	4	EFO	genetic disorder	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:319340	"" []	2040982	\N	\N	EFO	4	EFO	skin disease	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:319340	"" []	2040983	\N	\N	EFO	4	EFO	Rare genetic bone disease	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:319340	"" []	2040984	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:319340	"" []	2040985	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319340	"" []	2040986	\N	\N	EFO	4	EFO	disease	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319340	"" []	5182644	\N	\N	EFO	7	EFO	disease	Carney complex-trismus-pseudocamptodactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319340	"" []	6378925	\N	\N	EFO	9	EFO	material property	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319340	"" []	3191283	\N	\N	EFO	5	EFO	genetic disorder	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:319340	"" []	3191284	\N	\N	EFO	5	EFO	bone disease	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:319340	"" []	3191285	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319340	"" []	4397989	\N	\N	EFO	6	EFO	genetic disorder	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319340	"" []	6778742	\N	\N	EFO	10	EFO	experimental factor	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:319340	"" []	4397988	\N	\N	EFO	6	EFO	skeletal system disease	Carney complex-trismus-pseudocamptodactyly syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319340	"" []	5415343	\N	\N	EFO	7	EFO	disease	Carney complex-trismus-pseudocamptodactyly syndrome
Orphanet:3194	\N	\N	"" []	Orphanet:3194	"" []	76501	\N	\N	EFO	0	EFO	Stern-Lubinsky-Durrie syndrome	Stern-Lubinsky-Durrie syndrome
Orphanet:79373	Orphanet:3194	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3194	"" []	219514	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Stern-Lubinsky-Durrie syndrome
Orphanet:98628	Orphanet:3194	\N	"" []	Orphanet:3194	"" []	219515	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	Stern-Lubinsky-Durrie syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3194	"" []	574963	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Stern-Lubinsky-Durrie syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3194	"" []	574964	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Stern-Lubinsky-Durrie syndrome
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:3194	"" []	574965	\N	\N	EFO	2	EFO	Corneal dystrophy	Stern-Lubinsky-Durrie syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3194	"" []	1157843	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Stern-Lubinsky-Durrie syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3194	"" []	1157844	\N	\N	EFO	3	EFO	Rare genetic skin disease	Stern-Lubinsky-Durrie syndrome
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:3194	"" []	1157845	\N	\N	EFO	3	EFO	Rare genetic eye disease	Stern-Lubinsky-Durrie syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3194	"" []	2040989	\N	\N	EFO	4	EFO	genetic disorder	Stern-Lubinsky-Durrie syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3194	"" []	2040990	\N	\N	EFO	4	EFO	genetic disorder	Stern-Lubinsky-Durrie syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3194	"" []	2040991	\N	\N	EFO	4	EFO	skin disease	Stern-Lubinsky-Durrie syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3194	"" []	2040992	\N	\N	EFO	4	EFO	genetic disorder	Stern-Lubinsky-Durrie syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3194	"" []	2040993	\N	\N	EFO	4	EFO	eye disease	Stern-Lubinsky-Durrie syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3194	"" []	3191287	\N	\N	EFO	5	EFO	disease	Stern-Lubinsky-Durrie syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3194	"" []	3191288	\N	\N	EFO	5	EFO	disease	Stern-Lubinsky-Durrie syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3194	"" []	3191289	\N	\N	EFO	5	EFO	disease	Stern-Lubinsky-Durrie syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3194	"" []	4397990	\N	\N	EFO	6	EFO	disposition	Stern-Lubinsky-Durrie syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3194	"" []	5415344	\N	\N	EFO	7	EFO	material property	Stern-Lubinsky-Durrie syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3194	"" []	6151309	\N	\N	EFO	8	EFO	experimental factor	Stern-Lubinsky-Durrie syndrome
Orphanet:319462	\N	\N	"" []	Orphanet:319462	"" []	76502	\N	\N	EFO	0	EFO	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Orphanet:319328	Orphanet:319462	\N	"" []	Orphanet:319462	"" []	219516	\N	\N	EFO	1	EFO	Inherited renal cancer-predisposing syndrome	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Orphanet:140162	Orphanet:319328	\N	"" []	Orphanet:319462	"" []	574966	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319462	"" []	1157846	\N	\N	EFO	3	EFO	genetic disorder	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319462	"" []	2040994	\N	\N	EFO	4	EFO	disease	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319462	"" []	3191290	\N	\N	EFO	5	EFO	disposition	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319462	"" []	4397991	\N	\N	EFO	6	EFO	material property	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319462	"" []	5415345	\N	\N	EFO	7	EFO	experimental factor	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Orphanet:319465	\N	\N	"" []	Orphanet:319465	"" []	76503	\N	\N	EFO	0	EFO	Inherited acute myeloid leukemia	Inherited acute myeloid leukemia
Orphanet:322126	Orphanet:319465	\N	"" []	Orphanet:319465	"" []	219517	\N	\N	EFO	1	EFO	Genetic tumor of hematopoietic and lymphoid tissues	Inherited acute myeloid leukemia
EFO:0005803	Orphanet:322126	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:319465	"" []	574967	\N	\N	EFO	2	EFO	hematological system disease	Inherited acute myeloid leukemia
Orphanet:68336	Orphanet:322126	\N	"" []	Orphanet:319465	"" []	574968	\N	\N	EFO	2	EFO	Rare genetic tumor	Inherited acute myeloid leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319465	"" []	1157847	\N	\N	EFO	3	EFO	disease	Inherited acute myeloid leukemia
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319465	"" []	1157848	\N	\N	EFO	3	EFO	genetic disorder	Inherited acute myeloid leukemia
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:319465	"" []	1157849	\N	\N	EFO	3	EFO	neoplasm	Inherited acute myeloid leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319465	"" []	3191292	\N	\N	EFO	5	EFO	disposition	Inherited acute myeloid leukemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319465	"" []	2040996	\N	\N	EFO	4	EFO	disease	Inherited acute myeloid leukemia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319465	"" []	2040997	\N	\N	EFO	4	EFO	disease	Inherited acute myeloid leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319465	"" []	4133873	\N	\N	EFO	6	EFO	material property	Inherited acute myeloid leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319465	"" []	5182645	\N	\N	EFO	7	EFO	experimental factor	Inherited acute myeloid leukemia
Orphanet:319480	\N	\N	"" []	Orphanet:319480	"" []	76504	\N	\N	EFO	0	EFO	Acute myeloid leukemia with CEBPA somatic mutations	Acute myeloid leukemia with CEBPA somatic mutations
Orphanet:322126	Orphanet:319480	\N	"" []	Orphanet:319480	"" []	219518	\N	\N	EFO	1	EFO	Genetic tumor of hematopoietic and lymphoid tissues	Acute myeloid leukemia with CEBPA somatic mutations
EFO:0005803	Orphanet:322126	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:319480	"" []	574969	\N	\N	EFO	2	EFO	hematological system disease	Acute myeloid leukemia with CEBPA somatic mutations
Orphanet:68336	Orphanet:322126	\N	"" []	Orphanet:319480	"" []	574970	\N	\N	EFO	2	EFO	Rare genetic tumor	Acute myeloid leukemia with CEBPA somatic mutations
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319480	"" []	1157850	\N	\N	EFO	3	EFO	disease	Acute myeloid leukemia with CEBPA somatic mutations
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319480	"" []	1157851	\N	\N	EFO	3	EFO	genetic disorder	Acute myeloid leukemia with CEBPA somatic mutations
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:319480	"" []	1157852	\N	\N	EFO	3	EFO	neoplasm	Acute myeloid leukemia with CEBPA somatic mutations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319480	"" []	3191294	\N	\N	EFO	5	EFO	disposition	Acute myeloid leukemia with CEBPA somatic mutations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319480	"" []	2040999	\N	\N	EFO	4	EFO	disease	Acute myeloid leukemia with CEBPA somatic mutations
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319480	"" []	2041000	\N	\N	EFO	4	EFO	disease	Acute myeloid leukemia with CEBPA somatic mutations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319480	"" []	4133874	\N	\N	EFO	6	EFO	material property	Acute myeloid leukemia with CEBPA somatic mutations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319480	"" []	5182646	\N	\N	EFO	7	EFO	experimental factor	Acute myeloid leukemia with CEBPA somatic mutations
Orphanet:319487	\N	\N	"" []	Orphanet:319487	"" []	76505	\N	\N	EFO	0	EFO	Familial papillary or follicular thyroid carcinoma	Familial papillary or follicular thyroid carcinoma
Orphanet:319494	Orphanet:319487	\N	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	Orphanet:319487	"" []	219519	\N	\N	EFO	1	EFO	Familial nonmedullary thyroid carcinoma	Familial papillary or follicular thyroid carcinoma
Orphanet:271847	Orphanet:319494	\N	"" []	Orphanet:319487	"" []	574971	\N	\N	EFO	2	EFO	Genetic endocrine tumor	Familial papillary or follicular thyroid carcinoma
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:319487	"" []	1157853	\N	\N	EFO	3	EFO	endocrine neoplasm	Familial papillary or follicular thyroid carcinoma
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:319487	"" []	1157854	\N	\N	EFO	3	EFO	Rare genetic tumor	Familial papillary or follicular thyroid carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:319487	"" []	2041001	\N	\N	EFO	4	EFO	neoplasm	Familial papillary or follicular thyroid carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:319487	"" []	2041002	\N	\N	EFO	4	EFO	endocrine system disease	Familial papillary or follicular thyroid carcinoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319487	"" []	2041003	\N	\N	EFO	4	EFO	genetic disorder	Familial papillary or follicular thyroid carcinoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:319487	"" []	2041004	\N	\N	EFO	4	EFO	neoplasm	Familial papillary or follicular thyroid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319487	"" []	3191295	\N	\N	EFO	5	EFO	disease	Familial papillary or follicular thyroid carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319487	"" []	3191296	\N	\N	EFO	5	EFO	disease	Familial papillary or follicular thyroid carcinoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319487	"" []	3191297	\N	\N	EFO	5	EFO	disease	Familial papillary or follicular thyroid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319487	"" []	4397994	\N	\N	EFO	6	EFO	disposition	Familial papillary or follicular thyroid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319487	"" []	5415346	\N	\N	EFO	7	EFO	material property	Familial papillary or follicular thyroid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319487	"" []	6151310	\N	\N	EFO	8	EFO	experimental factor	Familial papillary or follicular thyroid carcinoma
Orphanet:319494	\N	\N	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	76506	\N	\N	EFO	0	EFO	Familial nonmedullary thyroid carcinoma	Familial nonmedullary thyroid carcinoma
Orphanet:271847	Orphanet:319494	\N	"" []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	219520	\N	\N	EFO	1	EFO	Genetic endocrine tumor	Familial nonmedullary thyroid carcinoma
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	574972	\N	\N	EFO	2	EFO	endocrine neoplasm	Familial nonmedullary thyroid carcinoma
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	574973	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial nonmedullary thyroid carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	1157855	\N	\N	EFO	3	EFO	neoplasm	Familial nonmedullary thyroid carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	1157856	\N	\N	EFO	3	EFO	endocrine system disease	Familial nonmedullary thyroid carcinoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	1157857	\N	\N	EFO	3	EFO	genetic disorder	Familial nonmedullary thyroid carcinoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	1157858	\N	\N	EFO	3	EFO	neoplasm	Familial nonmedullary thyroid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	2041005	\N	\N	EFO	4	EFO	disease	Familial nonmedullary thyroid carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	2041006	\N	\N	EFO	4	EFO	disease	Familial nonmedullary thyroid carcinoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	2041007	\N	\N	EFO	4	EFO	disease	Familial nonmedullary thyroid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	3191298	\N	\N	EFO	5	EFO	disposition	Familial nonmedullary thyroid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	4397995	\N	\N	EFO	6	EFO	material property	Familial nonmedullary thyroid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319494	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	5415347	\N	\N	EFO	7	EFO	experimental factor	Familial nonmedullary thyroid carcinoma
Orphanet:319504	\N	\N	"" []	Orphanet:319504	"" []	76507	\N	\N	EFO	0	EFO	Combined oxidative phosphorylation defect type 8	Combined oxidative phosphorylation defect type 8
Orphanet:35696	Orphanet:319504	\N	"" []	Orphanet:319504	"" []	219521	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Combined oxidative phosphorylation defect type 8
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:319504	"" []	574974	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Combined oxidative phosphorylation defect type 8
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:319504	"" []	1157859	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Combined oxidative phosphorylation defect type 8
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:319504	"" []	2041008	\N	\N	EFO	4	EFO	Mitochondrial disease	Combined oxidative phosphorylation defect type 8
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:319504	"" []	3191299	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Combined oxidative phosphorylation defect type 8
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:319504	"" []	3191300	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Combined oxidative phosphorylation defect type 8
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:319504	"" []	4397996	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Combined oxidative phosphorylation defect type 8
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:319504	"" []	4397997	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Combined oxidative phosphorylation defect type 8
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319504	"" []	5415348	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 8
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319504	"" []	5415349	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 8
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:319504	"" []	5415350	\N	\N	EFO	7	EFO	metabolic disease	Combined oxidative phosphorylation defect type 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319504	"" []	6151311	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 8
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319504	"" []	6151312	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319504	"" []	6633582	\N	\N	EFO	9	EFO	disposition	Combined oxidative phosphorylation defect type 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319504	"" []	6926044	\N	\N	EFO	10	EFO	material property	Combined oxidative phosphorylation defect type 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319504	"" []	7099249	\N	\N	EFO	11	EFO	experimental factor	Combined oxidative phosphorylation defect type 8
Orphanet:319509	\N	\N	"" []	Orphanet:319509	"" []	76508	\N	\N	EFO	0	EFO	Combined oxidative phosphorylation defect type 9	Combined oxidative phosphorylation defect type 9
Orphanet:35696	Orphanet:319509	\N	"" []	Orphanet:319509	"" []	219522	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Combined oxidative phosphorylation defect type 9
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:319509	"" []	574975	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Combined oxidative phosphorylation defect type 9
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:319509	"" []	1157860	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Combined oxidative phosphorylation defect type 9
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:319509	"" []	2041009	\N	\N	EFO	4	EFO	Mitochondrial disease	Combined oxidative phosphorylation defect type 9
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:319509	"" []	3191301	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Combined oxidative phosphorylation defect type 9
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:319509	"" []	3191302	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Combined oxidative phosphorylation defect type 9
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:319509	"" []	4397998	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Combined oxidative phosphorylation defect type 9
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:319509	"" []	4397999	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Combined oxidative phosphorylation defect type 9
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319509	"" []	5415351	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 9
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319509	"" []	5415352	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 9
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:319509	"" []	5415353	\N	\N	EFO	7	EFO	metabolic disease	Combined oxidative phosphorylation defect type 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319509	"" []	6151313	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 9
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319509	"" []	6151314	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319509	"" []	6633583	\N	\N	EFO	9	EFO	disposition	Combined oxidative phosphorylation defect type 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319509	"" []	6926045	\N	\N	EFO	10	EFO	material property	Combined oxidative phosphorylation defect type 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319509	"" []	7099250	\N	\N	EFO	11	EFO	experimental factor	Combined oxidative phosphorylation defect type 9
Orphanet:319514	\N	\N	"" []	Orphanet:319514	"" []	76509	\N	\N	EFO	0	EFO	Combined oxidative phosphorylation defect type 13	Combined oxidative phosphorylation defect type 13
Orphanet:35696	Orphanet:319514	\N	"" []	Orphanet:319514	"" []	219523	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Combined oxidative phosphorylation defect type 13
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:319514	"" []	574976	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Combined oxidative phosphorylation defect type 13
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:319514	"" []	1157861	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Combined oxidative phosphorylation defect type 13
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:319514	"" []	2041010	\N	\N	EFO	4	EFO	Mitochondrial disease	Combined oxidative phosphorylation defect type 13
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:319514	"" []	3191303	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Combined oxidative phosphorylation defect type 13
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:319514	"" []	3191304	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Combined oxidative phosphorylation defect type 13
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:319514	"" []	4398000	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Combined oxidative phosphorylation defect type 13
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:319514	"" []	4398001	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Combined oxidative phosphorylation defect type 13
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319514	"" []	5415354	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 13
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319514	"" []	5415355	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 13
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:319514	"" []	5415356	\N	\N	EFO	7	EFO	metabolic disease	Combined oxidative phosphorylation defect type 13
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319514	"" []	6151315	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 13
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319514	"" []	6151316	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 13
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319514	"" []	6633584	\N	\N	EFO	9	EFO	disposition	Combined oxidative phosphorylation defect type 13
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319514	"" []	6926046	\N	\N	EFO	10	EFO	material property	Combined oxidative phosphorylation defect type 13
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319514	"" []	7099251	\N	\N	EFO	11	EFO	experimental factor	Combined oxidative phosphorylation defect type 13
Orphanet:319519	\N	\N	"" []	Orphanet:319519	"" []	76510	\N	\N	EFO	0	EFO	Combined oxidative phosphorylation defect type 14	Combined oxidative phosphorylation defect type 14
Orphanet:35696	Orphanet:319519	\N	"" []	Orphanet:319519	"" []	219524	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Combined oxidative phosphorylation defect type 14
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:319519	"" []	574977	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Combined oxidative phosphorylation defect type 14
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:319519	"" []	1157862	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Combined oxidative phosphorylation defect type 14
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:319519	"" []	2041011	\N	\N	EFO	4	EFO	Mitochondrial disease	Combined oxidative phosphorylation defect type 14
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:319519	"" []	3191305	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Combined oxidative phosphorylation defect type 14
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:319519	"" []	3191306	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Combined oxidative phosphorylation defect type 14
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:319519	"" []	4398002	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Combined oxidative phosphorylation defect type 14
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:319519	"" []	4398003	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Combined oxidative phosphorylation defect type 14
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319519	"" []	5415357	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 14
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319519	"" []	5415358	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 14
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:319519	"" []	5415359	\N	\N	EFO	7	EFO	metabolic disease	Combined oxidative phosphorylation defect type 14
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319519	"" []	6151317	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 14
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319519	"" []	6151318	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 14
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319519	"" []	6633585	\N	\N	EFO	9	EFO	disposition	Combined oxidative phosphorylation defect type 14
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319519	"" []	6926047	\N	\N	EFO	10	EFO	material property	Combined oxidative phosphorylation defect type 14
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319519	"" []	7099252	\N	\N	EFO	11	EFO	experimental factor	Combined oxidative phosphorylation defect type 14
Orphanet:319524	\N	\N	"" []	Orphanet:319524	"" []	76511	\N	\N	EFO	0	EFO	Combined oxidative phosphorylation defect type 15	Combined oxidative phosphorylation defect type 15
Orphanet:35696	Orphanet:319524	\N	"" []	Orphanet:319524	"" []	219525	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Combined oxidative phosphorylation defect type 15
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:319524	"" []	574978	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Combined oxidative phosphorylation defect type 15
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:319524	"" []	1157863	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Combined oxidative phosphorylation defect type 15
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:319524	"" []	2041012	\N	\N	EFO	4	EFO	Mitochondrial disease	Combined oxidative phosphorylation defect type 15
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:319524	"" []	3191307	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Combined oxidative phosphorylation defect type 15
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:319524	"" []	3191308	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Combined oxidative phosphorylation defect type 15
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:319524	"" []	4398004	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Combined oxidative phosphorylation defect type 15
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:319524	"" []	4398005	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Combined oxidative phosphorylation defect type 15
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319524	"" []	5415360	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 15
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319524	"" []	5415361	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 15
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:319524	"" []	5415362	\N	\N	EFO	7	EFO	metabolic disease	Combined oxidative phosphorylation defect type 15
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319524	"" []	6151319	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 15
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319524	"" []	6151320	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 15
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319524	"" []	6633586	\N	\N	EFO	9	EFO	disposition	Combined oxidative phosphorylation defect type 15
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319524	"" []	6926048	\N	\N	EFO	10	EFO	material property	Combined oxidative phosphorylation defect type 15
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319524	"" []	7099253	\N	\N	EFO	11	EFO	experimental factor	Combined oxidative phosphorylation defect type 15
Orphanet:319535	\N	\N	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	76512	\N	\N	EFO	0	EFO	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Orphanet:748	Orphanet:319535	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	219526	\N	\N	EFO	1	EFO	Mendelian susceptibility to mycobacterial diseases	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	574979	\N	\N	EFO	2	EFO	Genetic susceptibility to infections due to particular pathogens	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	1157864	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	2041013	\N	\N	EFO	4	EFO	Primary immunodeficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	3191309	\N	\N	EFO	5	EFO	Rare genetic immune disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	4398006	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	4398007	\N	\N	EFO	6	EFO	immune system disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	5415363	\N	\N	EFO	7	EFO	disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	5415364	\N	\N	EFO	7	EFO	disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	6151321	\N	\N	EFO	8	EFO	disposition	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	6633587	\N	\N	EFO	9	EFO	material property	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319535	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	6926049	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Orphanet:319539	\N	\N	" genes which lead to a residual response of IFN-gamma." []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	76513	\N	\N	EFO	0	EFO	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Orphanet:748	Orphanet:319539	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	219527	\N	\N	EFO	1	EFO	Mendelian susceptibility to mycobacterial diseases	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	574980	\N	\N	EFO	2	EFO	Genetic susceptibility to infections due to particular pathogens	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	1157865	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	2041014	\N	\N	EFO	4	EFO	Primary immunodeficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	3191310	\N	\N	EFO	5	EFO	Rare genetic immune disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	4398008	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	4398009	\N	\N	EFO	6	EFO	immune system disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	5415365	\N	\N	EFO	7	EFO	disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	5415366	\N	\N	EFO	7	EFO	disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	6151322	\N	\N	EFO	8	EFO	disposition	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	6633588	\N	\N	EFO	9	EFO	material property	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319539	" genes which lead to a residual response of IFN-gamma." []	6926050	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Orphanet:319543	\N	\N	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	76514	\N	\N	EFO	0	EFO	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Orphanet:748	Orphanet:319543	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	219528	\N	\N	EFO	1	EFO	Mendelian susceptibility to mycobacterial diseases	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	574981	\N	\N	EFO	2	EFO	Genetic susceptibility to infections due to particular pathogens	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	1157866	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	2041015	\N	\N	EFO	4	EFO	Primary immunodeficiency	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	3191311	\N	\N	EFO	5	EFO	Rare genetic immune disease	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	4398010	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	4398011	\N	\N	EFO	6	EFO	immune system disease	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	5415367	\N	\N	EFO	7	EFO	disease	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	5415368	\N	\N	EFO	7	EFO	disease	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	6151323	\N	\N	EFO	8	EFO	disposition	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	6633589	\N	\N	EFO	9	EFO	material property	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319543	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	6926051	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Orphanet:319547	\N	\N	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	76515	\N	\N	EFO	0	EFO	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Orphanet:319535	Orphanet:319547	\N	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	219529	\N	\N	EFO	1	EFO	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Orphanet:748	Orphanet:319535	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	574982	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	1157867	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	2041016	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	3191312	\N	\N	EFO	5	EFO	Primary immunodeficiency	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	4398012	\N	\N	EFO	6	EFO	Rare genetic immune disease	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	5415369	\N	\N	EFO	7	EFO	genetic disorder	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	5415370	\N	\N	EFO	7	EFO	immune system disease	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6151324	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6151325	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6633590	\N	\N	EFO	9	EFO	disposition	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6926052	\N	\N	EFO	10	EFO	material property	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319547	"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	7099254	\N	\N	EFO	11	EFO	experimental factor	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Orphanet:319552	\N	\N	" infections." []	Orphanet:319552	" infections." []	76516	\N	\N	EFO	0	EFO	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Orphanet:319535	Orphanet:319552	\N	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	Orphanet:319552	" infections." []	219530	\N	\N	EFO	1	EFO	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Orphanet:748	Orphanet:319535	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319552	" infections." []	574983	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319552	" infections." []	1157868	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319552	" infections." []	2041017	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319552	" infections." []	3191313	\N	\N	EFO	5	EFO	Primary immunodeficiency	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319552	" infections." []	4398013	\N	\N	EFO	6	EFO	Rare genetic immune disease	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319552	" infections." []	5415371	\N	\N	EFO	7	EFO	genetic disorder	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319552	" infections." []	5415372	\N	\N	EFO	7	EFO	immune system disease	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319552	" infections." []	6151326	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319552	" infections." []	6151327	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319552	" infections." []	6633591	\N	\N	EFO	9	EFO	disposition	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319552	" infections." []	6926053	\N	\N	EFO	10	EFO	material property	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319552	" infections." []	7099255	\N	\N	EFO	11	EFO	experimental factor	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Orphanet:319558	\N	\N	" infections." []	Orphanet:319558	" infections." []	76517	\N	\N	EFO	0	EFO	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Orphanet:319535	Orphanet:319558	\N	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	Orphanet:319558	" infections." []	219531	\N	\N	EFO	1	EFO	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Orphanet:748	Orphanet:319535	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319558	" infections." []	574984	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319558	" infections." []	1157869	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319558	" infections." []	2041018	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319558	" infections." []	3191314	\N	\N	EFO	5	EFO	Primary immunodeficiency	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319558	" infections." []	4398014	\N	\N	EFO	6	EFO	Rare genetic immune disease	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319558	" infections." []	5415373	\N	\N	EFO	7	EFO	genetic disorder	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319558	" infections." []	5415374	\N	\N	EFO	7	EFO	immune system disease	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319558	" infections." []	6151328	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319558	" infections." []	6151329	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319558	" infections." []	6633592	\N	\N	EFO	9	EFO	disposition	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319558	" infections." []	6926054	\N	\N	EFO	10	EFO	material property	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319558	" infections." []	7099256	\N	\N	EFO	11	EFO	experimental factor	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Orphanet:319563	\N	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	76518	\N	\N	EFO	0	EFO	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Orphanet:319535	Orphanet:319563	\N	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	219532	\N	\N	EFO	1	EFO	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Orphanet:748	Orphanet:319535	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	574985	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	1157870	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	2041019	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	3191315	\N	\N	EFO	5	EFO	Primary immunodeficiency	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	4398015	\N	\N	EFO	6	EFO	Rare genetic immune disease	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	5415375	\N	\N	EFO	7	EFO	genetic disorder	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	5415376	\N	\N	EFO	7	EFO	immune system disease	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	6151330	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	6151331	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	6633593	\N	\N	EFO	9	EFO	disposition	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	6926055	\N	\N	EFO	10	EFO	material property	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319563	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Gurin (BCG) infections." []	7099257	\N	\N	EFO	11	EFO	experimental factor	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Orphanet:319569	\N	\N	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	76519	\N	\N	EFO	0	EFO	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:319539	Orphanet:319569	\N	" genes which lead to a residual response of IFN-gamma." []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	219533	\N	\N	EFO	1	EFO	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:748	Orphanet:319539	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	574986	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	1157871	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	2041020	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	3191316	\N	\N	EFO	5	EFO	Primary immunodeficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	4398016	\N	\N	EFO	6	EFO	Rare genetic immune disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	5415377	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	5415378	\N	\N	EFO	7	EFO	immune system disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6151332	\N	\N	EFO	8	EFO	disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6151333	\N	\N	EFO	8	EFO	disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6633594	\N	\N	EFO	9	EFO	disposition	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6926056	\N	\N	EFO	10	EFO	material property	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319569	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	7099258	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:319574	\N	\N	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	76520	\N	\N	EFO	0	EFO	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:319539	Orphanet:319574	\N	" genes which lead to a residual response of IFN-gamma." []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	219534	\N	\N	EFO	1	EFO	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:748	Orphanet:319539	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	574987	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	1157872	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	2041021	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	3191317	\N	\N	EFO	5	EFO	Primary immunodeficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	4398017	\N	\N	EFO	6	EFO	Rare genetic immune disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	5415379	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	5415380	\N	\N	EFO	7	EFO	immune system disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6151334	\N	\N	EFO	8	EFO	disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6151335	\N	\N	EFO	8	EFO	disease	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6633595	\N	\N	EFO	9	EFO	disposition	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6926057	\N	\N	EFO	10	EFO	material property	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319574	"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	7099259	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:319581	\N	\N	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	76521	\N	\N	EFO	0	EFO	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:319543	Orphanet:319581	\N	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	219535	\N	\N	EFO	1	EFO	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:748	Orphanet:319543	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	574988	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	1157873	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	2041022	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	3191318	\N	\N	EFO	5	EFO	Primary immunodeficiency	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	4398018	\N	\N	EFO	6	EFO	Rare genetic immune disease	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	5415381	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	5415382	\N	\N	EFO	7	EFO	immune system disease	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6151336	\N	\N	EFO	8	EFO	disease	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6151337	\N	\N	EFO	8	EFO	disease	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6633596	\N	\N	EFO	9	EFO	disposition	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6926058	\N	\N	EFO	10	EFO	material property	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319581	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	7099260	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Orphanet:319589	\N	\N	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	76522	\N	\N	EFO	0	EFO	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:319543	Orphanet:319589	\N	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	219536	\N	\N	EFO	1	EFO	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:748	Orphanet:319543	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	574989	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	1157874	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	2041023	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	3191319	\N	\N	EFO	5	EFO	Primary immunodeficiency	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	4398019	\N	\N	EFO	6	EFO	Rare genetic immune disease	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	5415383	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	5415384	\N	\N	EFO	7	EFO	immune system disease	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6151338	\N	\N	EFO	8	EFO	disease	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6151339	\N	\N	EFO	8	EFO	disease	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6633597	\N	\N	EFO	9	EFO	disposition	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6926059	\N	\N	EFO	10	EFO	material property	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319589	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	7099261	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Orphanet:319595	\N	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	76523	\N	\N	EFO	0	EFO	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Orphanet:319543	Orphanet:319595	\N	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	219537	\N	\N	EFO	1	EFO	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Orphanet:748	Orphanet:319543	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	574990	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	1157875	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	2041024	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	3191320	\N	\N	EFO	5	EFO	Primary immunodeficiency	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	4398020	\N	\N	EFO	6	EFO	Rare genetic immune disease	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	5415385	\N	\N	EFO	7	EFO	genetic disorder	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	5415386	\N	\N	EFO	7	EFO	immune system disease	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	6151340	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	6151341	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	6633598	\N	\N	EFO	9	EFO	disposition	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	6926060	\N	\N	EFO	10	EFO	material property	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319595	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." []	7099262	\N	\N	EFO	11	EFO	experimental factor	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Orphanet:3196	\N	\N	"" []	Orphanet:3196	"" []	76524	\N	\N	EFO	0	EFO	Steroid dehydrogenase deficiency - dental anomalies	Steroid dehydrogenase deficiency - dental anomalies
Orphanet:101940	Orphanet:3196	\N	"" []	Orphanet:3196	"" []	219538	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Steroid dehydrogenase deficiency - dental anomalies
Orphanet:183580	Orphanet:3196	\N	"" []	Orphanet:3196	"" []	219539	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Steroid dehydrogenase deficiency - dental anomalies
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:3196	"" []	574991	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Steroid dehydrogenase deficiency - dental anomalies
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:3196	"" []	574992	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Steroid dehydrogenase deficiency - dental anomalies
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:3196	"" []	1157876	\N	\N	EFO	3	EFO	digestive system disease	Steroid dehydrogenase deficiency - dental anomalies
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3196	"" []	1157877	\N	\N	EFO	3	EFO	genetic disorder	Steroid dehydrogenase deficiency - dental anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3196	"" []	1157878	\N	\N	EFO	3	EFO	genetic disorder	Steroid dehydrogenase deficiency - dental anomalies
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3196	"" []	2041025	\N	\N	EFO	4	EFO	disease	Steroid dehydrogenase deficiency - dental anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3196	"" []	2041026	\N	\N	EFO	4	EFO	disease	Steroid dehydrogenase deficiency - dental anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3196	"" []	3191321	\N	\N	EFO	5	EFO	disposition	Steroid dehydrogenase deficiency - dental anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3196	"" []	4398021	\N	\N	EFO	6	EFO	material property	Steroid dehydrogenase deficiency - dental anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3196	"" []	5415387	\N	\N	EFO	7	EFO	experimental factor	Steroid dehydrogenase deficiency - dental anomalies
Orphanet:319600	\N	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	76525	\N	\N	EFO	0	EFO	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Orphanet:319543	Orphanet:319600	\N	"Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	219540	\N	\N	EFO	1	EFO	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Orphanet:748	Orphanet:319543	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	574993	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	1157879	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	2041027	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	3191322	\N	\N	EFO	5	EFO	Primary immunodeficiency	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	4398022	\N	\N	EFO	6	EFO	Rare genetic immune disease	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	5415388	\N	\N	EFO	7	EFO	genetic disorder	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	5415389	\N	\N	EFO	7	EFO	immune system disease	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	6151342	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	6151343	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	6633599	\N	\N	EFO	9	EFO	disposition	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	6926061	\N	\N	EFO	10	EFO	material property	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319600	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Gurin (BCG).." []	7099263	\N	\N	EFO	11	EFO	experimental factor	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Orphanet:319605	\N	\N	") genes. They are characterized by mycobacterial infections, occuring in males." []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	76526	\N	\N	EFO	0	EFO	X-linked mendelian susceptibility to mycobacterial diseases	X-linked mendelian susceptibility to mycobacterial diseases
Orphanet:748	Orphanet:319605	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	219541	\N	\N	EFO	1	EFO	Mendelian susceptibility to mycobacterial diseases	X-linked mendelian susceptibility to mycobacterial diseases
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	574994	\N	\N	EFO	2	EFO	Genetic susceptibility to infections due to particular pathogens	X-linked mendelian susceptibility to mycobacterial diseases
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	1157880	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	X-linked mendelian susceptibility to mycobacterial diseases
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	2041028	\N	\N	EFO	4	EFO	Primary immunodeficiency	X-linked mendelian susceptibility to mycobacterial diseases
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	3191323	\N	\N	EFO	5	EFO	Rare genetic immune disease	X-linked mendelian susceptibility to mycobacterial diseases
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	4398023	\N	\N	EFO	6	EFO	genetic disorder	X-linked mendelian susceptibility to mycobacterial diseases
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	4398024	\N	\N	EFO	6	EFO	immune system disease	X-linked mendelian susceptibility to mycobacterial diseases
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	5415390	\N	\N	EFO	7	EFO	disease	X-linked mendelian susceptibility to mycobacterial diseases
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	5415391	\N	\N	EFO	7	EFO	disease	X-linked mendelian susceptibility to mycobacterial diseases
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	6151344	\N	\N	EFO	8	EFO	disposition	X-linked mendelian susceptibility to mycobacterial diseases
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	6633600	\N	\N	EFO	9	EFO	material property	X-linked mendelian susceptibility to mycobacterial diseases
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319605	") genes. They are characterized by mycobacterial infections, occuring in males." []	6926062	\N	\N	EFO	10	EFO	experimental factor	X-linked mendelian susceptibility to mycobacterial diseases
Orphanet:319612	\N	\N	"" []	Orphanet:319612	"" []	76527	\N	\N	EFO	0	EFO	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Orphanet:319605	Orphanet:319612	\N	") genes. They are characterized by mycobacterial infections, occuring in males." []	Orphanet:319612	"" []	219542	\N	\N	EFO	1	EFO	X-linked mendelian susceptibility to mycobacterial diseases	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Orphanet:748	Orphanet:319605	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319612	"" []	574995	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319612	"" []	1157881	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319612	"" []	2041029	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319612	"" []	3191324	\N	\N	EFO	5	EFO	Primary immunodeficiency	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319612	"" []	4398025	\N	\N	EFO	6	EFO	Rare genetic immune disease	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319612	"" []	5415392	\N	\N	EFO	7	EFO	genetic disorder	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319612	"" []	5415393	\N	\N	EFO	7	EFO	immune system disease	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319612	"" []	6151345	\N	\N	EFO	8	EFO	disease	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319612	"" []	6151346	\N	\N	EFO	8	EFO	disease	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319612	"" []	6633601	\N	\N	EFO	9	EFO	disposition	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319612	"" []	6926063	\N	\N	EFO	10	EFO	material property	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319612	"" []	7099264	\N	\N	EFO	11	EFO	experimental factor	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Orphanet:319623	\N	\N	"" []	Orphanet:319623	"" []	76528	\N	\N	EFO	0	EFO	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Orphanet:319605	Orphanet:319623	\N	") genes. They are characterized by mycobacterial infections, occuring in males." []	Orphanet:319623	"" []	219543	\N	\N	EFO	1	EFO	X-linked mendelian susceptibility to mycobacterial diseases	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Orphanet:748	Orphanet:319605	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:319623	"" []	574996	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:319623	"" []	1157882	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:319623	"" []	2041030	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:319623	"" []	3191325	\N	\N	EFO	5	EFO	Primary immunodeficiency	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:319623	"" []	4398026	\N	\N	EFO	6	EFO	Rare genetic immune disease	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319623	"" []	5415394	\N	\N	EFO	7	EFO	genetic disorder	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:319623	"" []	5415395	\N	\N	EFO	7	EFO	immune system disease	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319623	"" []	6151347	\N	\N	EFO	8	EFO	disease	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319623	"" []	6151348	\N	\N	EFO	8	EFO	disease	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319623	"" []	6633602	\N	\N	EFO	9	EFO	disposition	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319623	"" []	6926064	\N	\N	EFO	10	EFO	material property	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319623	"" []	7099265	\N	\N	EFO	11	EFO	experimental factor	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Orphanet:319640	\N	\N	"" []	Orphanet:319640	"" []	76529	\N	\N	EFO	0	EFO	Retinal macular dystrophy type 2	Retinal macular dystrophy type 2
Orphanet:98664	Orphanet:319640	\N	"" []	Orphanet:319640	"" []	219544	\N	\N	EFO	1	EFO	Genetic macular dystrophy	Retinal macular dystrophy type 2
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:319640	"" []	574997	\N	\N	EFO	2	EFO	Retinal dystrophy	Retinal macular dystrophy type 2
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:319640	"" []	1157883	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Retinal macular dystrophy type 2
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:319640	"" []	2041031	\N	\N	EFO	4	EFO	Rare genetic eye disease	Retinal macular dystrophy type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319640	"" []	3191326	\N	\N	EFO	5	EFO	genetic disorder	Retinal macular dystrophy type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:319640	"" []	3191327	\N	\N	EFO	5	EFO	eye disease	Retinal macular dystrophy type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319640	"" []	4398027	\N	\N	EFO	6	EFO	disease	Retinal macular dystrophy type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319640	"" []	4398028	\N	\N	EFO	6	EFO	disease	Retinal macular dystrophy type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319640	"" []	5415396	\N	\N	EFO	7	EFO	disposition	Retinal macular dystrophy type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319640	"" []	6151349	\N	\N	EFO	8	EFO	material property	Retinal macular dystrophy type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319640	"" []	6633603	\N	\N	EFO	9	EFO	experimental factor	Retinal macular dystrophy type 2
Orphanet:319646	\N	\N	"" []	Orphanet:319646	"" []	76530	\N	\N	EFO	0	EFO	PGM-CDG	PGM-CDG
Orphanet:309347	Orphanet:319646	\N	"" []	Orphanet:319646	"" []	219545	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	PGM-CDG
Orphanet:371157	Orphanet:319646	\N	"" []	Orphanet:319646	"" []	219546	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	PGM-CDG
Orphanet:371176	Orphanet:319646	\N	"" []	Orphanet:319646	"" []	219547	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with dilated cardiomyopathy	PGM-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:319646	"" []	574998	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	PGM-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:319646	"" []	574999	\N	\N	EFO	2	EFO	Rare metabolic liver disease	PGM-CDG
Orphanet:217607	Orphanet:371176	\N	"" []	Orphanet:319646	"" []	575000	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	PGM-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:319646	"" []	1157884	\N	\N	EFO	3	EFO	Inborn errors of metabolism	PGM-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:319646	"" []	1157885	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	PGM-CDG
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:319646	"" []	1157886	\N	\N	EFO	3	EFO	cardiomyopathy	PGM-CDG
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:319646	"" []	1157887	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	PGM-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319646	"" []	2041032	\N	\N	EFO	4	EFO	genetic disorder	PGM-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:319646	"" []	2041033	\N	\N	EFO	4	EFO	metabolic disease	PGM-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:319646	"" []	2041034	\N	\N	EFO	4	EFO	digestive system disease	PGM-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319646	"" []	2041035	\N	\N	EFO	4	EFO	genetic disorder	PGM-CDG
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:319646	"" []	2041036	\N	\N	EFO	4	EFO	heart disease	PGM-CDG
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319646	"" []	2041037	\N	\N	EFO	4	EFO	genetic disorder	PGM-CDG
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:319646	"" []	2041038	\N	\N	EFO	4	EFO	heart disease	PGM-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319646	"" []	3191328	\N	\N	EFO	5	EFO	disease	PGM-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319646	"" []	3191329	\N	\N	EFO	5	EFO	disease	PGM-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319646	"" []	3191330	\N	\N	EFO	5	EFO	disease	PGM-CDG
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:319646	"" []	3191331	\N	\N	EFO	5	EFO	cardiovascular disease	PGM-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319646	"" []	5415398	\N	\N	EFO	7	EFO	disposition	PGM-CDG
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319646	"" []	4398030	\N	\N	EFO	6	EFO	disease	PGM-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319646	"" []	5998021	\N	\N	EFO	8	EFO	material property	PGM-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319646	"" []	6551328	\N	\N	EFO	9	EFO	experimental factor	PGM-CDG
Orphanet:319651	\N	\N	"" []	Orphanet:319651	"" []	76531	\N	\N	EFO	0	EFO	Constitutional megaloblastic anemia with severe neurologic disease	Constitutional megaloblastic anemia with severe neurologic disease
Orphanet:285657	Orphanet:319651	\N	"" []	Orphanet:319651	"" []	219548	\N	\N	EFO	1	EFO	Disorder of folate metabolism and transport	Constitutional megaloblastic anemia with severe neurologic disease
Orphanet:98408	Orphanet:319651	\N	"" []	Orphanet:319651	"" []	219549	\N	\N	EFO	1	EFO	Constitutional megaloblastic anemia due to folate metabolism disorder	Constitutional megaloblastic anemia with severe neurologic disease
Orphanet:309827	Orphanet:285657	\N	"" []	Orphanet:319651	"" []	575001	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Constitutional megaloblastic anemia with severe neurologic disease
Orphanet:248296	Orphanet:98408	\N	"" []	Orphanet:319651	"" []	575002	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Constitutional megaloblastic anemia with severe neurologic disease
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:319651	"" []	1157888	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Constitutional megaloblastic anemia with severe neurologic disease
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:319651	"" []	1157889	\N	\N	EFO	3	EFO	Rare constitutional anemia	Constitutional megaloblastic anemia with severe neurologic disease
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:319651	"" []	2041039	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Constitutional megaloblastic anemia with severe neurologic disease
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:319651	"" []	2041040	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Constitutional megaloblastic anemia with severe neurologic disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319651	"" []	3191332	\N	\N	EFO	5	EFO	genetic disorder	Constitutional megaloblastic anemia with severe neurologic disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:319651	"" []	3191333	\N	\N	EFO	5	EFO	metabolic disease	Constitutional megaloblastic anemia with severe neurologic disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319651	"" []	3191334	\N	\N	EFO	5	EFO	genetic disorder	Constitutional megaloblastic anemia with severe neurologic disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:319651	"" []	3191335	\N	\N	EFO	5	EFO	hematological system disease	Constitutional megaloblastic anemia with severe neurologic disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319651	"" []	4398031	\N	\N	EFO	6	EFO	disease	Constitutional megaloblastic anemia with severe neurologic disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319651	"" []	4398032	\N	\N	EFO	6	EFO	disease	Constitutional megaloblastic anemia with severe neurologic disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319651	"" []	4398033	\N	\N	EFO	6	EFO	disease	Constitutional megaloblastic anemia with severe neurologic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319651	"" []	5415399	\N	\N	EFO	7	EFO	disposition	Constitutional megaloblastic anemia with severe neurologic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319651	"" []	6151351	\N	\N	EFO	8	EFO	material property	Constitutional megaloblastic anemia with severe neurologic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319651	"" []	6633604	\N	\N	EFO	9	EFO	experimental factor	Constitutional megaloblastic anemia with severe neurologic disease
Orphanet:319671	\N	\N	"" []	Orphanet:319671	"" []	76532	\N	\N	EFO	0	EFO	Microcephalic primordial dwarfism, Alazami type	Microcephalic primordial dwarfism, Alazami type
Orphanet:324761	Orphanet:319671	\N	"" []	Orphanet:319671	"" []	219550	\N	\N	EFO	1	EFO	Microcephalic primordial dwarfism	Microcephalic primordial dwarfism, Alazami type
Orphanet:102283	Orphanet:324761	\N	"" []	Orphanet:319671	"" []	575003	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephalic primordial dwarfism, Alazami type
Orphanet:183763	Orphanet:324761	\N	"" []	Orphanet:319671	"" []	575004	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephalic primordial dwarfism, Alazami type
Orphanet:269528	Orphanet:324761	\N	"" []	Orphanet:319671	"" []	575005	\N	\N	EFO	2	EFO	Syndrome with microcephaly as major feature	Microcephalic primordial dwarfism, Alazami type
Orphanet:93440	Orphanet:324761	\N	"" []	Orphanet:319671	"" []	575006	\N	\N	EFO	2	EFO	Slender bone dysplasia	Microcephalic primordial dwarfism, Alazami type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:319671	"" []	1157890	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephalic primordial dwarfism, Alazami type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:319671	"" []	1157891	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Microcephalic primordial dwarfism, Alazami type
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:319671	"" []	1157892	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephalic primordial dwarfism, Alazami type
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:319671	"" []	1157893	\N	\N	EFO	3	EFO	Primary bone dysplasia	Microcephalic primordial dwarfism, Alazami type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:319671	"" []	2041041	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism, Alazami type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:319671	"" []	2041042	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephalic primordial dwarfism, Alazami type
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:319671	"" []	2041043	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Microcephalic primordial dwarfism, Alazami type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:319671	"" []	2041044	\N	\N	EFO	4	EFO	Rare genetic bone disease	Microcephalic primordial dwarfism, Alazami type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:319671	"" []	2041045	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Microcephalic primordial dwarfism, Alazami type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319671	"" []	4398035	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic primordial dwarfism, Alazami type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319671	"" []	4398036	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic primordial dwarfism, Alazami type
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:319671	"" []	3191338	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism, Alazami type
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:319671	"" []	3191339	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Microcephalic primordial dwarfism, Alazami type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319671	"" []	3191340	\N	\N	EFO	5	EFO	genetic disorder	Microcephalic primordial dwarfism, Alazami type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:319671	"" []	3191341	\N	\N	EFO	5	EFO	bone disease	Microcephalic primordial dwarfism, Alazami type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:319671	"" []	3191342	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism, Alazami type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319671	"" []	5182647	\N	\N	EFO	7	EFO	disease	Microcephalic primordial dwarfism, Alazami type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:319671	"" []	4398037	\N	\N	EFO	6	EFO	skeletal system disease	Microcephalic primordial dwarfism, Alazami type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319671	"" []	5998022	\N	\N	EFO	8	EFO	disposition	Microcephalic primordial dwarfism, Alazami type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319671	"" []	5415401	\N	\N	EFO	7	EFO	disease	Microcephalic primordial dwarfism, Alazami type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319671	"" []	6551329	\N	\N	EFO	9	EFO	material property	Microcephalic primordial dwarfism, Alazami type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319671	"" []	6889397	\N	\N	EFO	10	EFO	experimental factor	Microcephalic primordial dwarfism, Alazami type
Orphanet:319675	\N	\N	"" []	Orphanet:319675	"" []	76533	\N	\N	EFO	0	EFO	Microcephalic primordial dwarfism, Dauber type	Microcephalic primordial dwarfism, Dauber type
Orphanet:324761	Orphanet:319675	\N	"" []	Orphanet:319675	"" []	219551	\N	\N	EFO	1	EFO	Microcephalic primordial dwarfism	Microcephalic primordial dwarfism, Dauber type
Orphanet:102283	Orphanet:324761	\N	"" []	Orphanet:319675	"" []	575007	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephalic primordial dwarfism, Dauber type
Orphanet:183763	Orphanet:324761	\N	"" []	Orphanet:319675	"" []	575008	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephalic primordial dwarfism, Dauber type
Orphanet:269528	Orphanet:324761	\N	"" []	Orphanet:319675	"" []	575009	\N	\N	EFO	2	EFO	Syndrome with microcephaly as major feature	Microcephalic primordial dwarfism, Dauber type
Orphanet:93440	Orphanet:324761	\N	"" []	Orphanet:319675	"" []	575010	\N	\N	EFO	2	EFO	Slender bone dysplasia	Microcephalic primordial dwarfism, Dauber type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:319675	"" []	1157894	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephalic primordial dwarfism, Dauber type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:319675	"" []	1157895	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Microcephalic primordial dwarfism, Dauber type
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:319675	"" []	1157896	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephalic primordial dwarfism, Dauber type
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:319675	"" []	1157897	\N	\N	EFO	3	EFO	Primary bone dysplasia	Microcephalic primordial dwarfism, Dauber type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:319675	"" []	2041046	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism, Dauber type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:319675	"" []	2041047	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephalic primordial dwarfism, Dauber type
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:319675	"" []	2041048	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Microcephalic primordial dwarfism, Dauber type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:319675	"" []	2041049	\N	\N	EFO	4	EFO	Rare genetic bone disease	Microcephalic primordial dwarfism, Dauber type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:319675	"" []	2041050	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Microcephalic primordial dwarfism, Dauber type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319675	"" []	4398039	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic primordial dwarfism, Dauber type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319675	"" []	4398040	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic primordial dwarfism, Dauber type
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:319675	"" []	3191345	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism, Dauber type
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:319675	"" []	3191346	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Microcephalic primordial dwarfism, Dauber type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319675	"" []	3191347	\N	\N	EFO	5	EFO	genetic disorder	Microcephalic primordial dwarfism, Dauber type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:319675	"" []	3191348	\N	\N	EFO	5	EFO	bone disease	Microcephalic primordial dwarfism, Dauber type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:319675	"" []	3191349	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism, Dauber type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319675	"" []	5182648	\N	\N	EFO	7	EFO	disease	Microcephalic primordial dwarfism, Dauber type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:319675	"" []	4398041	\N	\N	EFO	6	EFO	skeletal system disease	Microcephalic primordial dwarfism, Dauber type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319675	"" []	5998023	\N	\N	EFO	8	EFO	disposition	Microcephalic primordial dwarfism, Dauber type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319675	"" []	5415403	\N	\N	EFO	7	EFO	disease	Microcephalic primordial dwarfism, Dauber type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319675	"" []	6551330	\N	\N	EFO	9	EFO	material property	Microcephalic primordial dwarfism, Dauber type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319675	"" []	6889398	\N	\N	EFO	10	EFO	experimental factor	Microcephalic primordial dwarfism, Dauber type
Orphanet:319678	\N	\N	"" []	Orphanet:319678	"" []	76534	\N	\N	EFO	0	EFO	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:217587	Orphanet:319678	\N	"" []	Orphanet:319678	"" []	219552	\N	\N	EFO	1	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:35656	Orphanet:319678	\N	"" []	Orphanet:319678	"" []	219553	\N	\N	EFO	1	EFO	Coenzyme Q10 deficiency	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:319678	"" []	575011	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:225703	Orphanet:35656	\N	"" []	Orphanet:319678	"" []	575012	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:2443	Orphanet:35656	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:319678	"" []	575013	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:68385	Orphanet:35656	\N	"" []	Orphanet:319678	"" []	575014	\N	\N	EFO	2	EFO	Neurometabolic disease	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:319678	"" []	1157898	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:319678	"" []	1157899	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:319678	"" []	1157900	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:319678	"" []	1157901	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319678	"" []	2041051	\N	\N	EFO	4	EFO	genetic disorder	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:319678	"" []	2041052	\N	\N	EFO	4	EFO	heart disease	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:319678	"" []	2041053	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:319678	"" []	2041054	\N	\N	EFO	4	EFO	Mitochondrial disease	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319678	"" []	5415406	\N	\N	EFO	7	EFO	genetic disorder	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319678	"" []	5817703	\N	\N	EFO	8	EFO	disease	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:319678	"" []	3191351	\N	\N	EFO	5	EFO	cardiovascular disease	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:319678	"" []	3191352	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:319678	"" []	3191353	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:319678	"" []	3191354	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:319678	"" []	6410150	\N	\N	EFO	9	EFO	disposition	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319678	"" []	4398043	\N	\N	EFO	6	EFO	disease	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:319678	"" []	4398044	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:319678	"" []	4398045	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:319678	"" []	4398046	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:319678	"" []	6807983	\N	\N	EFO	10	EFO	material property	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319678	"" []	5415407	\N	\N	EFO	7	EFO	genetic disorder	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:319678	"" []	5415408	\N	\N	EFO	7	EFO	genetic disorder	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:319678	"" []	5415409	\N	\N	EFO	7	EFO	metabolic disease	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:319678	"" []	7048708	\N	\N	EFO	11	EFO	experimental factor	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:319678	"" []	6151355	\N	\N	EFO	8	EFO	disease	Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Orphanet:3197	\N	\N	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	76535	\N	\N	EFO	0	EFO	Hereditary hyperekplexia	Hereditary hyperekplexia
Orphanet:183521	Orphanet:3197	\N	"" []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	219554	\N	\N	EFO	1	EFO	Rare genetic movement disorder	Hereditary hyperekplexia
Orphanet:68385	Orphanet:3197	\N	"" []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	219555	\N	\N	EFO	1	EFO	Neurometabolic disease	Hereditary hyperekplexia
Orphanet:79219	Orphanet:3197	\N	"" []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	219556	\N	\N	EFO	1	EFO	Metabolic disease involving other neurotransmitter deficiency	Hereditary hyperekplexia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	575015	\N	\N	EFO	2	EFO	movement disorder	Hereditary hyperekplexia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	575016	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hereditary hyperekplexia
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	575017	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hereditary hyperekplexia
Orphanet:79214	Orphanet:79219	\N	"" []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	575018	\N	\N	EFO	2	EFO	Disorder of biogenic amine metabolism and transport	Hereditary hyperekplexia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	1157902	\N	\N	EFO	3	EFO	nervous system disease	Hereditary hyperekplexia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	1157903	\N	\N	EFO	3	EFO	genetic disorder	Hereditary hyperekplexia
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	1157904	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hereditary hyperekplexia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	2041056	\N	\N	EFO	4	EFO	disease	Hereditary hyperekplexia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	3191356	\N	\N	EFO	5	EFO	disease	Hereditary hyperekplexia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	2041058	\N	\N	EFO	4	EFO	genetic disorder	Hereditary hyperekplexia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	2041059	\N	\N	EFO	4	EFO	metabolic disease	Hereditary hyperekplexia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	4133875	\N	\N	EFO	6	EFO	disposition	Hereditary hyperekplexia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	3191357	\N	\N	EFO	5	EFO	disease	Hereditary hyperekplexia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	5182649	\N	\N	EFO	7	EFO	material property	Hereditary hyperekplexia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3197	"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." []	5998025	\N	\N	EFO	8	EFO	experimental factor	Hereditary hyperekplexia
Orphanet:3199	\N	\N	"" []	Orphanet:3199	"" []	76536	\N	\N	EFO	0	EFO	Stimmler syndrome	Stimmler syndrome
Orphanet:102283	Orphanet:3199	\N	"" []	Orphanet:3199	"" []	219557	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Stimmler syndrome
Orphanet:183763	Orphanet:3199	\N	"" []	Orphanet:3199	"" []	219558	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Stimmler syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3199	"" []	575019	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Stimmler syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3199	"" []	575020	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Stimmler syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3199	"" []	1157905	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Stimmler syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3199	"" []	1157906	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Stimmler syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3199	"" []	2041060	\N	\N	EFO	4	EFO	genetic disorder	Stimmler syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3199	"" []	2041061	\N	\N	EFO	4	EFO	genetic disorder	Stimmler syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3199	"" []	3191358	\N	\N	EFO	5	EFO	disease	Stimmler syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3199	"" []	4398048	\N	\N	EFO	6	EFO	disposition	Stimmler syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3199	"" []	5415411	\N	\N	EFO	7	EFO	material property	Stimmler syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3199	"" []	6151356	\N	\N	EFO	8	EFO	experimental factor	Stimmler syndrome
Orphanet:32	\N	\N	"" []	Orphanet:32	"" []	76537	\N	\N	EFO	0	EFO	Glutathione synthetase deficiency	Glutathione synthetase deficiency
Orphanet:79196	Orphanet:32	\N	"" []	Orphanet:32	"" []	219559	\N	\N	EFO	1	EFO	Disorder of the gamma-glutamyl cycle	Glutathione synthetase deficiency
Orphanet:98370	Orphanet:32	\N	"" []	Orphanet:32	"" []	219560	\N	\N	EFO	1	EFO	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	Glutathione synthetase deficiency
Orphanet:79062	Orphanet:79196	\N	"" []	Orphanet:32	"" []	575021	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Glutathione synthetase deficiency
Orphanet:98369	Orphanet:98370	\N	"" []	Orphanet:32	"" []	575022	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Glutathione synthetase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:32	"" []	1157907	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glutathione synthetase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:32	"" []	1157908	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Glutathione synthetase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:32	"" []	2041062	\N	\N	EFO	4	EFO	genetic disorder	Glutathione synthetase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:32	"" []	2041063	\N	\N	EFO	4	EFO	metabolic disease	Glutathione synthetase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:32	"" []	2041064	\N	\N	EFO	4	EFO	Rare constitutional anemia	Glutathione synthetase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:32	"" []	5415413	\N	\N	EFO	7	EFO	disease	Glutathione synthetase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:32	"" []	3191360	\N	\N	EFO	5	EFO	disease	Glutathione synthetase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:32	"" []	3191361	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Glutathione synthetase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:32	"" []	5877331	\N	\N	EFO	8	EFO	disposition	Glutathione synthetase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:32	"" []	4398050	\N	\N	EFO	6	EFO	genetic disorder	Glutathione synthetase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:32	"" []	4398051	\N	\N	EFO	6	EFO	hematological system disease	Glutathione synthetase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:32	"" []	6470568	\N	\N	EFO	9	EFO	material property	Glutathione synthetase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:32	"" []	5415414	\N	\N	EFO	7	EFO	disease	Glutathione synthetase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:32	"" []	6848611	\N	\N	EFO	10	EFO	experimental factor	Glutathione synthetase deficiency
Orphanet:320	\N	\N	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	76538	\N	\N	EFO	0	EFO	Apparent mineralocorticoid excess	Apparent mineralocorticoid excess
Orphanet:156629	Orphanet:320	\N	"" []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	219561	\N	\N	EFO	1	EFO	Genetic hypertension	Apparent mineralocorticoid excess
Orphanet:183637	Orphanet:320	\N	"" []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	219562	\N	\N	EFO	1	EFO	Rare genetic adrenal disease	Apparent mineralocorticoid excess
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	575023	\N	\N	EFO	2	EFO	Rare genetic renal disease	Apparent mineralocorticoid excess
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	575024	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Apparent mineralocorticoid excess
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	1157909	\N	\N	EFO	3	EFO	genetic disorder	Apparent mineralocorticoid excess
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	1157910	\N	\N	EFO	3	EFO	genetic disorder	Apparent mineralocorticoid excess
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	1157911	\N	\N	EFO	3	EFO	endocrine system disease	Apparent mineralocorticoid excess
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	2041065	\N	\N	EFO	4	EFO	disease	Apparent mineralocorticoid excess
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	2041066	\N	\N	EFO	4	EFO	disease	Apparent mineralocorticoid excess
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	3191362	\N	\N	EFO	5	EFO	disposition	Apparent mineralocorticoid excess
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	4398052	\N	\N	EFO	6	EFO	material property	Apparent mineralocorticoid excess
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320	"Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." []	5415415	\N	\N	EFO	7	EFO	experimental factor	Apparent mineralocorticoid excess
Orphanet:3201	\N	\N	"" []	Orphanet:3201	"" []	76539	\N	\N	EFO	0	EFO	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Orphanet:139039	Orphanet:3201	\N	"" []	Orphanet:3201	"" []	219563	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Orphanet:330206	Orphanet:3201	\N	"" []	Orphanet:3201	"" []	219564	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3201	"" []	575025	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3201	"" []	575026	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3201	"" []	1157912	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3201	"" []	1157913	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3201	"" []	2041067	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3201	"" []	4398053	\N	\N	EFO	6	EFO	genetic disorder	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3201	"" []	3191363	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3201	"" []	5059988	\N	\N	EFO	7	EFO	disease	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3201	"" []	5877332	\N	\N	EFO	8	EFO	disposition	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3201	"" []	6470569	\N	\N	EFO	9	EFO	material property	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3201	"" []	6848612	\N	\N	EFO	10	EFO	experimental factor	Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Orphanet:3202	\N	\N	"" []	Orphanet:3202	"" []	76540	\N	\N	EFO	0	EFO	Dehydrated hereditary stomatocytosis	Dehydrated hereditary stomatocytosis
Orphanet:98365	Orphanet:3202	\N	"" []	Orphanet:3202	"" []	219565	\N	\N	EFO	1	EFO	Hereditary stomatocytosis	Dehydrated hereditary stomatocytosis
Orphanet:98364	Orphanet:98365	\N	"" []	Orphanet:3202	"" []	575027	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Dehydrated hereditary stomatocytosis
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:3202	"" []	1157914	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Dehydrated hereditary stomatocytosis
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:3202	"" []	2041069	\N	\N	EFO	4	EFO	Rare constitutional anemia	Dehydrated hereditary stomatocytosis
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:3202	"" []	3191365	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Dehydrated hereditary stomatocytosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3202	"" []	4398055	\N	\N	EFO	6	EFO	genetic disorder	Dehydrated hereditary stomatocytosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:3202	"" []	4398056	\N	\N	EFO	6	EFO	hematological system disease	Dehydrated hereditary stomatocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3202	"" []	5415417	\N	\N	EFO	7	EFO	disease	Dehydrated hereditary stomatocytosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3202	"" []	5415418	\N	\N	EFO	7	EFO	disease	Dehydrated hereditary stomatocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3202	"" []	6151359	\N	\N	EFO	8	EFO	disposition	Dehydrated hereditary stomatocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3202	"" []	6633607	\N	\N	EFO	9	EFO	material property	Dehydrated hereditary stomatocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3202	"" []	6926065	\N	\N	EFO	10	EFO	experimental factor	Dehydrated hereditary stomatocytosis
Orphanet:3203	\N	\N	"" []	Orphanet:3203	"" []	76541	\N	\N	EFO	0	EFO	Overhydrated hereditary stomatocytosis	Overhydrated hereditary stomatocytosis
Orphanet:98365	Orphanet:3203	\N	"" []	Orphanet:3203	"" []	219566	\N	\N	EFO	1	EFO	Hereditary stomatocytosis	Overhydrated hereditary stomatocytosis
Orphanet:98364	Orphanet:98365	\N	"" []	Orphanet:3203	"" []	575028	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Overhydrated hereditary stomatocytosis
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:3203	"" []	1157915	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Overhydrated hereditary stomatocytosis
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:3203	"" []	2041070	\N	\N	EFO	4	EFO	Rare constitutional anemia	Overhydrated hereditary stomatocytosis
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:3203	"" []	3191366	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Overhydrated hereditary stomatocytosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3203	"" []	4398057	\N	\N	EFO	6	EFO	genetic disorder	Overhydrated hereditary stomatocytosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:3203	"" []	4398058	\N	\N	EFO	6	EFO	hematological system disease	Overhydrated hereditary stomatocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3203	"" []	5415419	\N	\N	EFO	7	EFO	disease	Overhydrated hereditary stomatocytosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3203	"" []	5415420	\N	\N	EFO	7	EFO	disease	Overhydrated hereditary stomatocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3203	"" []	6151360	\N	\N	EFO	8	EFO	disposition	Overhydrated hereditary stomatocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3203	"" []	6633608	\N	\N	EFO	9	EFO	material property	Overhydrated hereditary stomatocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3203	"" []	6926066	\N	\N	EFO	10	EFO	experimental factor	Overhydrated hereditary stomatocytosis
Orphanet:320317	\N	\N	"" []	Orphanet:320317	"" []	76542	\N	\N	EFO	0	EFO	Cleft lip/palate - ectodermal dysplasia	Cleft lip/palate - ectodermal dysplasia
Orphanet:79373	Orphanet:320317	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:320317	"" []	219567	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Cleft lip/palate - ectodermal dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:320317	"" []	575029	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Cleft lip/palate - ectodermal dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:320317	"" []	575030	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Cleft lip/palate - ectodermal dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:320317	"" []	1157916	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cleft lip/palate - ectodermal dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:320317	"" []	1157917	\N	\N	EFO	3	EFO	Rare genetic skin disease	Cleft lip/palate - ectodermal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320317	"" []	2041071	\N	\N	EFO	4	EFO	genetic disorder	Cleft lip/palate - ectodermal dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320317	"" []	2041072	\N	\N	EFO	4	EFO	genetic disorder	Cleft lip/palate - ectodermal dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:320317	"" []	2041073	\N	\N	EFO	4	EFO	skin disease	Cleft lip/palate - ectodermal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320317	"" []	3191367	\N	\N	EFO	5	EFO	disease	Cleft lip/palate - ectodermal dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320317	"" []	3191368	\N	\N	EFO	5	EFO	disease	Cleft lip/palate - ectodermal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320317	"" []	4398059	\N	\N	EFO	6	EFO	disposition	Cleft lip/palate - ectodermal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320317	"" []	5415421	\N	\N	EFO	7	EFO	material property	Cleft lip/palate - ectodermal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320317	"" []	6151361	\N	\N	EFO	8	EFO	experimental factor	Cleft lip/palate - ectodermal dysplasia
Orphanet:320332	\N	\N	"" []	Orphanet:320332	"" []	76543	\N	\N	EFO	0	EFO	X-linked pure spastic paraplegia	X-linked pure spastic paraplegia
Orphanet:102012	Orphanet:320332	\N	"" []	Orphanet:320332	"" []	219568	\N	\N	EFO	1	EFO	Pure hereditary spastic paraplegia	X-linked pure spastic paraplegia
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:320332	"" []	575031	\N	\N	EFO	2	EFO	Hereditary spastic paraplegia	X-linked pure spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320332	"" []	1157918	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	X-linked pure spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320332	"" []	2041074	\N	\N	EFO	4	EFO	neurodegenerative disease	X-linked pure spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320332	"" []	2041075	\N	\N	EFO	4	EFO	brain disease	X-linked pure spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320332	"" []	2041076	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked pure spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320332	"" []	3191369	\N	\N	EFO	5	EFO	nervous system disease	X-linked pure spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320332	"" []	3191370	\N	\N	EFO	5	EFO	nervous system disease	X-linked pure spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320332	"" []	3191371	\N	\N	EFO	5	EFO	genetic disorder	X-linked pure spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320332	"" []	4398060	\N	\N	EFO	6	EFO	disease	X-linked pure spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320332	"" []	4398061	\N	\N	EFO	6	EFO	disease	X-linked pure spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320332	"" []	5415422	\N	\N	EFO	7	EFO	disposition	X-linked pure spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320332	"" []	6151362	\N	\N	EFO	8	EFO	material property	X-linked pure spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320332	"" []	6633609	\N	\N	EFO	9	EFO	experimental factor	X-linked pure spastic paraplegia
Orphanet:320335	\N	\N	"" []	Orphanet:320335	"" []	76544	\N	\N	EFO	0	EFO	Pure or complex hereditary spastic paraplegia	Pure or complex hereditary spastic paraplegia
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:320335	"" []	219569	\N	\N	EFO	1	EFO	Hereditary spastic paraplegia	Pure or complex hereditary spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320335	"" []	575032	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Pure or complex hereditary spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320335	"" []	1157919	\N	\N	EFO	3	EFO	neurodegenerative disease	Pure or complex hereditary spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320335	"" []	1157920	\N	\N	EFO	3	EFO	brain disease	Pure or complex hereditary spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320335	"" []	1157921	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Pure or complex hereditary spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320335	"" []	2041077	\N	\N	EFO	4	EFO	nervous system disease	Pure or complex hereditary spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320335	"" []	2041078	\N	\N	EFO	4	EFO	nervous system disease	Pure or complex hereditary spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320335	"" []	2041079	\N	\N	EFO	4	EFO	genetic disorder	Pure or complex hereditary spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320335	"" []	3191372	\N	\N	EFO	5	EFO	disease	Pure or complex hereditary spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320335	"" []	3191373	\N	\N	EFO	5	EFO	disease	Pure or complex hereditary spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320335	"" []	4398062	\N	\N	EFO	6	EFO	disposition	Pure or complex hereditary spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320335	"" []	5415423	\N	\N	EFO	7	EFO	material property	Pure or complex hereditary spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320335	"" []	6151363	\N	\N	EFO	8	EFO	experimental factor	Pure or complex hereditary spastic paraplegia
Orphanet:320342	\N	\N	"" []	Orphanet:320342	"" []	76545	\N	\N	EFO	0	EFO	Pure or complex autosomal dominant spastic paraplegia	Pure or complex autosomal dominant spastic paraplegia
Orphanet:320335	Orphanet:320342	\N	"" []	Orphanet:320342	"" []	219570	\N	\N	EFO	1	EFO	Pure or complex hereditary spastic paraplegia	Pure or complex autosomal dominant spastic paraplegia
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:320342	"" []	575033	\N	\N	EFO	2	EFO	Hereditary spastic paraplegia	Pure or complex autosomal dominant spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320342	"" []	1157922	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Pure or complex autosomal dominant spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320342	"" []	2041080	\N	\N	EFO	4	EFO	neurodegenerative disease	Pure or complex autosomal dominant spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320342	"" []	2041081	\N	\N	EFO	4	EFO	brain disease	Pure or complex autosomal dominant spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320342	"" []	2041082	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Pure or complex autosomal dominant spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320342	"" []	3191374	\N	\N	EFO	5	EFO	nervous system disease	Pure or complex autosomal dominant spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320342	"" []	3191375	\N	\N	EFO	5	EFO	nervous system disease	Pure or complex autosomal dominant spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320342	"" []	3191376	\N	\N	EFO	5	EFO	genetic disorder	Pure or complex autosomal dominant spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320342	"" []	4398063	\N	\N	EFO	6	EFO	disease	Pure or complex autosomal dominant spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320342	"" []	4398064	\N	\N	EFO	6	EFO	disease	Pure or complex autosomal dominant spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320342	"" []	5415424	\N	\N	EFO	7	EFO	disposition	Pure or complex autosomal dominant spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320342	"" []	6151364	\N	\N	EFO	8	EFO	material property	Pure or complex autosomal dominant spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320342	"" []	6633610	\N	\N	EFO	9	EFO	experimental factor	Pure or complex autosomal dominant spastic paraplegia
Orphanet:320346	\N	\N	"" []	Orphanet:320346	"" []	76546	\N	\N	EFO	0	EFO	Pure or complex autosomal recessive spastic paraplegia	Pure or complex autosomal recessive spastic paraplegia
Orphanet:320335	Orphanet:320346	\N	"" []	Orphanet:320346	"" []	219571	\N	\N	EFO	1	EFO	Pure or complex hereditary spastic paraplegia	Pure or complex autosomal recessive spastic paraplegia
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:320346	"" []	575034	\N	\N	EFO	2	EFO	Hereditary spastic paraplegia	Pure or complex autosomal recessive spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320346	"" []	1157923	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Pure or complex autosomal recessive spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320346	"" []	2041083	\N	\N	EFO	4	EFO	neurodegenerative disease	Pure or complex autosomal recessive spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320346	"" []	2041084	\N	\N	EFO	4	EFO	brain disease	Pure or complex autosomal recessive spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320346	"" []	2041085	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Pure or complex autosomal recessive spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320346	"" []	3191377	\N	\N	EFO	5	EFO	nervous system disease	Pure or complex autosomal recessive spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320346	"" []	3191378	\N	\N	EFO	5	EFO	nervous system disease	Pure or complex autosomal recessive spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320346	"" []	3191379	\N	\N	EFO	5	EFO	genetic disorder	Pure or complex autosomal recessive spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320346	"" []	4398065	\N	\N	EFO	6	EFO	disease	Pure or complex autosomal recessive spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320346	"" []	4398066	\N	\N	EFO	6	EFO	disease	Pure or complex autosomal recessive spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320346	"" []	5415425	\N	\N	EFO	7	EFO	disposition	Pure or complex autosomal recessive spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320346	"" []	6151365	\N	\N	EFO	8	EFO	material property	Pure or complex autosomal recessive spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320346	"" []	6633611	\N	\N	EFO	9	EFO	experimental factor	Pure or complex autosomal recessive spastic paraplegia
Orphanet:320350	\N	\N	"" []	Orphanet:320350	"" []	76547	\N	\N	EFO	0	EFO	Pure or complex X-linked spastic paraplegia	Pure or complex X-linked spastic paraplegia
Orphanet:320335	Orphanet:320350	\N	"" []	Orphanet:320350	"" []	219572	\N	\N	EFO	1	EFO	Pure or complex hereditary spastic paraplegia	Pure or complex X-linked spastic paraplegia
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:320350	"" []	575035	\N	\N	EFO	2	EFO	Hereditary spastic paraplegia	Pure or complex X-linked spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320350	"" []	1157924	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Pure or complex X-linked spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320350	"" []	2041086	\N	\N	EFO	4	EFO	neurodegenerative disease	Pure or complex X-linked spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320350	"" []	2041087	\N	\N	EFO	4	EFO	brain disease	Pure or complex X-linked spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320350	"" []	2041088	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Pure or complex X-linked spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320350	"" []	3191380	\N	\N	EFO	5	EFO	nervous system disease	Pure or complex X-linked spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320350	"" []	3191381	\N	\N	EFO	5	EFO	nervous system disease	Pure or complex X-linked spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320350	"" []	3191382	\N	\N	EFO	5	EFO	genetic disorder	Pure or complex X-linked spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320350	"" []	4398067	\N	\N	EFO	6	EFO	disease	Pure or complex X-linked spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320350	"" []	4398068	\N	\N	EFO	6	EFO	disease	Pure or complex X-linked spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320350	"" []	5415426	\N	\N	EFO	7	EFO	disposition	Pure or complex X-linked spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320350	"" []	6151366	\N	\N	EFO	8	EFO	material property	Pure or complex X-linked spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320350	"" []	6633612	\N	\N	EFO	9	EFO	experimental factor	Pure or complex X-linked spastic paraplegia
Orphanet:320355	\N	\N	"" []	Orphanet:320355	"" []	76548	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 41	Autosomal dominant spastic paraplegia type 41
Orphanet:100980	Orphanet:320355	\N	"" []	Orphanet:320355	"" []	219573	\N	\N	EFO	1	EFO	Autosomal dominant pure spastic paraplegia	Autosomal dominant spastic paraplegia type 41
Orphanet:102012	Orphanet:100980	\N	"" []	Orphanet:320355	"" []	575036	\N	\N	EFO	2	EFO	Pure hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 41
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:320355	"" []	1157925	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 41
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320355	"" []	2041089	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 41
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320355	"" []	3191383	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 41
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320355	"" []	3191384	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 41
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320355	"" []	3191385	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 41
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320355	"" []	4398069	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 41
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320355	"" []	4398070	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 41
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320355	"" []	4398071	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 41
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320355	"" []	5415427	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 41
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320355	"" []	5415428	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 41
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320355	"" []	6151367	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 41
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320355	"" []	6633613	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 41
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320355	"" []	6926067	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 41
Orphanet:320360	\N	\N	"" []	Orphanet:320360	"" []	76549	\N	\N	EFO	0	EFO	Maternally-inherited spastic paraplegia	Maternally-inherited spastic paraplegia
Orphanet:102013	Orphanet:320360	\N	"" []	Orphanet:320360	"" []	219574	\N	\N	EFO	1	EFO	Complex hereditary spastic paraplegia	Maternally-inherited spastic paraplegia
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:320360	"" []	575037	\N	\N	EFO	2	EFO	Hereditary spastic paraplegia	Maternally-inherited spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320360	"" []	1157926	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Maternally-inherited spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320360	"" []	2041090	\N	\N	EFO	4	EFO	neurodegenerative disease	Maternally-inherited spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320360	"" []	2041091	\N	\N	EFO	4	EFO	brain disease	Maternally-inherited spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320360	"" []	2041092	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Maternally-inherited spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320360	"" []	3191386	\N	\N	EFO	5	EFO	nervous system disease	Maternally-inherited spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320360	"" []	3191387	\N	\N	EFO	5	EFO	nervous system disease	Maternally-inherited spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320360	"" []	3191388	\N	\N	EFO	5	EFO	genetic disorder	Maternally-inherited spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320360	"" []	4398072	\N	\N	EFO	6	EFO	disease	Maternally-inherited spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320360	"" []	4398073	\N	\N	EFO	6	EFO	disease	Maternally-inherited spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320360	"" []	5415429	\N	\N	EFO	7	EFO	disposition	Maternally-inherited spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320360	"" []	6151368	\N	\N	EFO	8	EFO	material property	Maternally-inherited spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320360	"" []	6633614	\N	\N	EFO	9	EFO	experimental factor	Maternally-inherited spastic paraplegia
Orphanet:320365	\N	\N	"" []	Orphanet:320365	"" []	76550	\N	\N	EFO	0	EFO	Autosomal dominant spastic paraplegia type 36	Autosomal dominant spastic paraplegia type 36
Orphanet:100979	Orphanet:320365	\N	"" []	Orphanet:320365	"" []	219575	\N	\N	EFO	1	EFO	Autosomal dominant complex spastic paraplegia	Autosomal dominant spastic paraplegia type 36
Orphanet:102013	Orphanet:100979	\N	"" []	Orphanet:320365	"" []	575038	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 36
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:320365	"" []	1157927	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal dominant spastic paraplegia type 36
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320365	"" []	2041093	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant spastic paraplegia type 36
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320365	"" []	3191389	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant spastic paraplegia type 36
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320365	"" []	3191390	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant spastic paraplegia type 36
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320365	"" []	3191391	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant spastic paraplegia type 36
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320365	"" []	4398074	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 36
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320365	"" []	4398075	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant spastic paraplegia type 36
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320365	"" []	4398076	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant spastic paraplegia type 36
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320365	"" []	5415430	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 36
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320365	"" []	5415431	\N	\N	EFO	7	EFO	disease	Autosomal dominant spastic paraplegia type 36
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320365	"" []	6151369	\N	\N	EFO	8	EFO	disposition	Autosomal dominant spastic paraplegia type 36
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320365	"" []	6633615	\N	\N	EFO	9	EFO	material property	Autosomal dominant spastic paraplegia type 36
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320365	"" []	6926068	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant spastic paraplegia type 36
Orphanet:320370	\N	\N	"" []	Orphanet:320370	"" []	76551	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 43	Autosomal recessive spastic paraplegia type 43
Orphanet:100981	Orphanet:320370	\N	"" []	Orphanet:320370	"" []	219576	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 43
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:320370	"" []	575039	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 43
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:320370	"" []	1157928	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 43
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320370	"" []	2041094	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 43
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320370	"" []	3191392	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 43
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320370	"" []	3191393	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 43
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320370	"" []	3191394	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 43
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320370	"" []	4398077	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 43
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320370	"" []	4398078	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 43
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320370	"" []	4398079	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 43
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320370	"" []	5415432	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 43
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320370	"" []	5415433	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 43
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320370	"" []	6151370	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 43
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320370	"" []	6633616	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 43
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320370	"" []	6926069	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 43
Orphanet:320375	\N	\N	"" []	Orphanet:320375	"" []	76552	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 55	Autosomal recessive spastic paraplegia type 55
Orphanet:100981	Orphanet:320375	\N	"" []	Orphanet:320375	"" []	219577	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 55
Orphanet:35696	Orphanet:320375	\N	"" []	Orphanet:320375	"" []	219578	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Autosomal recessive spastic paraplegia type 55
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:320375	"" []	575040	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 55
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:320375	"" []	575041	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal recessive spastic paraplegia type 55
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:320375	"" []	1157929	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 55
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:320375	"" []	1157930	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal recessive spastic paraplegia type 55
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320375	"" []	2041095	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 55
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:320375	"" []	2041096	\N	\N	EFO	4	EFO	Mitochondrial disease	Autosomal recessive spastic paraplegia type 55
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320375	"" []	3191395	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 55
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320375	"" []	3191396	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 55
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320375	"" []	3191397	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 55
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:320375	"" []	3191398	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Autosomal recessive spastic paraplegia type 55
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:320375	"" []	3191399	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Autosomal recessive spastic paraplegia type 55
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320375	"" []	4398080	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 55
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320375	"" []	4398081	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 55
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320375	"" []	4398082	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 55
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:320375	"" []	4398083	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive spastic paraplegia type 55
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:320375	"" []	4398084	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Autosomal recessive spastic paraplegia type 55
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320375	"" []	5415434	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 55
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320375	"" []	6151372	\N	\N	EFO	8	EFO	disease	Autosomal recessive spastic paraplegia type 55
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320375	"" []	5415436	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 55
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320375	"" []	5415437	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 55
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:320375	"" []	5415438	\N	\N	EFO	7	EFO	metabolic disease	Autosomal recessive spastic paraplegia type 55
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320375	"" []	6551332	\N	\N	EFO	9	EFO	disposition	Autosomal recessive spastic paraplegia type 55
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320375	"" []	6151373	\N	\N	EFO	8	EFO	disease	Autosomal recessive spastic paraplegia type 55
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320375	"" []	6889399	\N	\N	EFO	10	EFO	material property	Autosomal recessive spastic paraplegia type 55
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320375	"" []	7086045	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive spastic paraplegia type 55
Orphanet:320380	\N	\N	"" []	Orphanet:320380	"" []	76553	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 54	Autosomal recessive spastic paraplegia type 54
Orphanet:100981	Orphanet:320380	\N	"" []	Orphanet:320380	"" []	219579	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 54
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:320380	"" []	575042	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 54
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:320380	"" []	1157931	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 54
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320380	"" []	2041097	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 54
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320380	"" []	3191400	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 54
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320380	"" []	3191401	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 54
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320380	"" []	3191402	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 54
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320380	"" []	4398085	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 54
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320380	"" []	4398086	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 54
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320380	"" []	4398087	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 54
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320380	"" []	5415439	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 54
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320380	"" []	5415440	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 54
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320380	"" []	6151374	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 54
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320380	"" []	6633618	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 54
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320380	"" []	6926071	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 54
Orphanet:320385	\N	\N	"" []	Orphanet:320385	"" []	76554	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 49	Autosomal recessive spastic paraplegia type 49
Orphanet:100981	Orphanet:320385	\N	"" []	Orphanet:320385	"" []	219580	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 49
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:320385	"" []	575043	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 49
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:320385	"" []	1157932	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 49
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320385	"" []	2041098	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 49
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320385	"" []	3191403	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 49
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320385	"" []	3191404	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 49
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320385	"" []	3191405	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 49
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320385	"" []	4398088	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 49
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320385	"" []	4398089	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 49
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320385	"" []	4398090	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 49
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320385	"" []	5415441	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 49
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320385	"" []	5415442	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 49
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320385	"" []	6151375	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 49
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320385	"" []	6633619	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 49
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320385	"" []	6926072	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 49
Orphanet:320391	\N	\N	"" []	Orphanet:320391	"" []	76555	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 46	Autosomal recessive spastic paraplegia type 46
Orphanet:100981	Orphanet:320391	\N	"" []	Orphanet:320391	"" []	219581	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 46
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:320391	"" []	575044	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 46
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:320391	"" []	1157933	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 46
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320391	"" []	2041099	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 46
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320391	"" []	3191406	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 46
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320391	"" []	3191407	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 46
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320391	"" []	3191408	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 46
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320391	"" []	4398091	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 46
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320391	"" []	4398092	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 46
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320391	"" []	4398093	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 46
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320391	"" []	5415443	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 46
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320391	"" []	5415444	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 46
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320391	"" []	6151376	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 46
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320391	"" []	6633620	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 46
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320391	"" []	6926073	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 46
Orphanet:320396	\N	\N	"" []	Orphanet:320396	"" []	76556	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 45	Autosomal recessive spastic paraplegia type 45
Orphanet:100981	Orphanet:320396	\N	"" []	Orphanet:320396	"" []	219582	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 45
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:320396	"" []	575045	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 45
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:320396	"" []	1157934	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 45
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320396	"" []	2041100	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 45
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320396	"" []	3191409	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 45
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320396	"" []	3191410	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 45
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320396	"" []	3191411	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 45
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320396	"" []	4398094	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 45
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320396	"" []	4398095	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 45
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320396	"" []	4398096	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 45
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320396	"" []	5415445	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 45
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320396	"" []	5415446	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 45
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320396	"" []	6151377	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 45
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320396	"" []	6633621	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 45
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320396	"" []	6926074	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 45
Orphanet:3204	\N	\N	"" []	Orphanet:3204	"" []	76557	\N	\N	EFO	0	EFO	Stormorken-Sjaastad-Langslet syndrome	Stormorken-Sjaastad-Langslet syndrome
Orphanet:275729	Orphanet:3204	\N	"" []	Orphanet:3204	"" []	219583	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Stormorken-Sjaastad-Langslet syndrome
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:3204	"" []	575046	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Stormorken-Sjaastad-Langslet syndrome
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:3204	"" []	1157935	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Stormorken-Sjaastad-Langslet syndrome
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:3204	"" []	2041101	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Stormorken-Sjaastad-Langslet syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3204	"" []	3191412	\N	\N	EFO	5	EFO	genetic disorder	Stormorken-Sjaastad-Langslet syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:3204	"" []	3191413	\N	\N	EFO	5	EFO	hematological system disease	Stormorken-Sjaastad-Langslet syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3204	"" []	4398097	\N	\N	EFO	6	EFO	disease	Stormorken-Sjaastad-Langslet syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3204	"" []	4398098	\N	\N	EFO	6	EFO	disease	Stormorken-Sjaastad-Langslet syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3204	"" []	5415447	\N	\N	EFO	7	EFO	disposition	Stormorken-Sjaastad-Langslet syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3204	"" []	6151378	\N	\N	EFO	8	EFO	material property	Stormorken-Sjaastad-Langslet syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3204	"" []	6633622	\N	\N	EFO	9	EFO	experimental factor	Stormorken-Sjaastad-Langslet syndrome
Orphanet:320401	\N	\N	"" []	Orphanet:320401	"" []	76558	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 44	Autosomal recessive spastic paraplegia type 44
Orphanet:100981	Orphanet:320401	\N	"" []	Orphanet:320401	"" []	219584	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 44
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:320401	"" []	575047	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 44
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:320401	"" []	1157936	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 44
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320401	"" []	2041102	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 44
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320401	"" []	3191414	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 44
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320401	"" []	3191415	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 44
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320401	"" []	3191416	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 44
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320401	"" []	4398099	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 44
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320401	"" []	4398100	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 44
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320401	"" []	4398101	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 44
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320401	"" []	5415448	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 44
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320401	"" []	5415449	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 44
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320401	"" []	6151379	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 44
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320401	"" []	6633623	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 44
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320401	"" []	6926075	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 44
Orphanet:320406	\N	\N	"" []	Orphanet:320406	"" []	76559	\N	\N	EFO	0	EFO	Spastic paraplegia-optic atrophy-neuropathy syndrome	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:140450	Orphanet:320406	\N	"" []	Orphanet:320406	"" []	219585	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:320346	Orphanet:320406	\N	"" []	Orphanet:320406	"" []	219586	\N	\N	EFO	1	EFO	Pure or complex autosomal recessive spastic paraplegia	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:98677	Orphanet:320406	\N	"" []	Orphanet:320406	"" []	219587	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:320406	"" []	575048	\N	\N	EFO	2	EFO	motor neuron disease	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:320406	"" []	575049	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:320335	Orphanet:320346	\N	"" []	Orphanet:320406	"" []	575050	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:320406	"" []	575051	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320406	"" []	1157937	\N	\N	EFO	3	EFO	neurodegenerative disease	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:320406	"" []	1157938	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:320406	"" []	1157939	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:320406	"" []	1157940	\N	\N	EFO	3	EFO	Genetic optic atrophy	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320406	"" []	4398103	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320406	"" []	4398105	\N	\N	EFO	6	EFO	genetic disorder	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320406	"" []	2041105	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:320406	"" []	2041106	\N	\N	EFO	4	EFO	Optic neuropathy	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320406	"" []	5059989	\N	\N	EFO	7	EFO	disease	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320406	"" []	5059990	\N	\N	EFO	7	EFO	disease	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320406	"" []	3191419	\N	\N	EFO	5	EFO	neurodegenerative disease	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320406	"" []	3191420	\N	\N	EFO	5	EFO	brain disease	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320406	"" []	3191421	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:320406	"" []	3191422	\N	\N	EFO	5	EFO	Rare genetic eye disease	Spastic paraplegia-optic atrophy-neuropathy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320406	"" []	5877333	\N	\N	EFO	8	EFO	disposition	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320406	"" []	4398104	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320406	"" []	4398106	\N	\N	EFO	6	EFO	genetic disorder	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:320406	"" []	4398107	\N	\N	EFO	6	EFO	eye disease	Spastic paraplegia-optic atrophy-neuropathy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320406	"" []	6470570	\N	\N	EFO	9	EFO	material property	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320406	"" []	5415451	\N	\N	EFO	7	EFO	disease	Spastic paraplegia-optic atrophy-neuropathy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320406	"" []	6848613	\N	\N	EFO	10	EFO	experimental factor	Spastic paraplegia-optic atrophy-neuropathy syndrome
Orphanet:320411	\N	\N	"" []	Orphanet:320411	"" []	76560	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 56	Autosomal recessive spastic paraplegia type 56
Orphanet:320346	Orphanet:320411	\N	"" []	Orphanet:320411	"" []	219588	\N	\N	EFO	1	EFO	Pure or complex autosomal recessive spastic paraplegia	Autosomal recessive spastic paraplegia type 56
Orphanet:320335	Orphanet:320346	\N	"" []	Orphanet:320411	"" []	575052	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 56
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:320411	"" []	1157941	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 56
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:320411	"" []	2041107	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 56
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:320411	"" []	3191423	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 56
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:320411	"" []	3191424	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 56
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:320411	"" []	3191425	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 56
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320411	"" []	4398108	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 56
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:320411	"" []	4398109	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 56
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:320411	"" []	4398110	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 56
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320411	"" []	5415452	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 56
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:320411	"" []	5415453	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 56
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:320411	"" []	6151381	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 56
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:320411	"" []	6633624	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 56
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:320411	"" []	6926076	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 56
Orphanet:3205	\N	\N	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	76561	\N	\N	EFO	0	EFO	Sturge-Weber syndrome	Sturge-Weber syndrome
Orphanet:108987	Orphanet:3205	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	219589	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Sturge-Weber syndrome
Orphanet:156237	Orphanet:3205	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	219590	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Sturge-Weber syndrome
Orphanet:166466	Orphanet:3205	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	219591	\N	\N	EFO	1	EFO	Neurocutaneous syndrome with epilepsy	Sturge-Weber syndrome
Orphanet:166487	Orphanet:3205	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	219592	\N	\N	EFO	1	EFO	Cerebral diseases of vascular origin with epilepsy	Sturge-Weber syndrome
Orphanet:211240	Orphanet:3205	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	219593	\N	\N	EFO	1	EFO	Genetic vascular anomaly	Sturge-Weber syndrome
Orphanet:93460	Orphanet:3205	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	219594	\N	\N	EFO	1	EFO	Overgrowth syndrome	Sturge-Weber syndrome
Orphanet:98196	Orphanet:3205	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	219595	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Sturge-Weber syndrome
Orphanet:98592	Orphanet:3205	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	219596	\N	\N	EFO	1	EFO	Palpebral tumor with a vascular malformation	Sturge-Weber syndrome
Orphanet:98612	Orphanet:3205	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	219597	\N	\N	EFO	1	EFO	Conjunctival hemangioma or hemolymphangioma	Sturge-Weber syndrome
Orphanet:98638	Orphanet:3205	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	219598	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Sturge-Weber syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	575053	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Sturge-Weber syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	575054	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Sturge-Weber syndrome
Orphanet:183512	Orphanet:166466	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	575055	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Sturge-Weber syndrome
Orphanet:183512	Orphanet:166487	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	575056	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Sturge-Weber syndrome
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	575057	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Sturge-Weber syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	575058	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Sturge-Weber syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	575059	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Sturge-Weber syndrome
Orphanet:98580	Orphanet:98592	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	575060	\N	\N	EFO	2	EFO	Palpebral tumor	Sturge-Weber syndrome
Orphanet:98611	Orphanet:98612	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	575061	\N	\N	EFO	2	EFO	Conjunctival vascular anomaly	Sturge-Weber syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	575062	\N	\N	EFO	2	EFO	Rare genetic eye disease	Sturge-Weber syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	1157942	\N	\N	EFO	3	EFO	Rare genetic eye disease	Sturge-Weber syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	1157943	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Sturge-Weber syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	1157944	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Sturge-Weber syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	1157945	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Sturge-Weber syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	3191426	\N	\N	EFO	5	EFO	genetic disorder	Sturge-Weber syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	1157947	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Sturge-Weber syndrome
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	1157948	\N	\N	EFO	3	EFO	Rare palpebral disease	Sturge-Weber syndrome
Orphanet:98610	Orphanet:98611	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	1157949	\N	\N	EFO	3	EFO	Rare conjunctival disease	Sturge-Weber syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	4398112	\N	\N	EFO	6	EFO	genetic disorder	Sturge-Weber syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	4398113	\N	\N	EFO	6	EFO	eye disease	Sturge-Weber syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	2041111	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sturge-Weber syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	2041112	\N	\N	EFO	4	EFO	genetic disorder	Sturge-Weber syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	5028440	\N	\N	EFO	7	EFO	disease	Sturge-Weber syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	2041114	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Sturge-Weber syndrome
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	2041115	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Sturge-Weber syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	5028441	\N	\N	EFO	7	EFO	disease	Sturge-Weber syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	5817704	\N	\N	EFO	8	EFO	disposition	Sturge-Weber syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	3191428	\N	\N	EFO	5	EFO	Rare genetic eye disease	Sturge-Weber syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	6410151	\N	\N	EFO	9	EFO	material property	Sturge-Weber syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3205	"Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." []	6807984	\N	\N	EFO	10	EFO	experimental factor	Sturge-Weber syndrome
Orphanet:3206	\N	\N	"" []	Orphanet:3206	"" []	76562	\N	\N	EFO	0	EFO	Stve-Wiedemann syndrome	Stve-Wiedemann syndrome
Orphanet:93439	Orphanet:3206	\N	"" []	Orphanet:3206	"" []	219599	\N	\N	EFO	1	EFO	Bent bone dysplasia	Stve-Wiedemann syndrome
Orphanet:364526	Orphanet:93439	\N	"" []	Orphanet:3206	"" []	575063	\N	\N	EFO	2	EFO	Primary bone dysplasia	Stve-Wiedemann syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3206	"" []	1157952	\N	\N	EFO	3	EFO	Rare genetic bone disease	Stve-Wiedemann syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3206	"" []	1157953	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Stve-Wiedemann syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3206	"" []	2041117	\N	\N	EFO	4	EFO	genetic disorder	Stve-Wiedemann syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3206	"" []	2041118	\N	\N	EFO	4	EFO	bone disease	Stve-Wiedemann syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3206	"" []	2041119	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Stve-Wiedemann syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3206	"" []	4398116	\N	\N	EFO	6	EFO	disease	Stve-Wiedemann syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3206	"" []	3191430	\N	\N	EFO	5	EFO	skeletal system disease	Stve-Wiedemann syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3206	"" []	3191431	\N	\N	EFO	5	EFO	genetic disorder	Stve-Wiedemann syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3206	"" []	5182651	\N	\N	EFO	7	EFO	disposition	Stve-Wiedemann syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3206	"" []	4398115	\N	\N	EFO	6	EFO	disease	Stve-Wiedemann syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3206	"" []	5998027	\N	\N	EFO	8	EFO	material property	Stve-Wiedemann syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3206	"" []	6551333	\N	\N	EFO	9	EFO	experimental factor	Stve-Wiedemann syndrome
Orphanet:3207	\N	\N	"" []	Orphanet:3207	"" []	76563	\N	\N	EFO	0	EFO	White matter hypoplasia - corpus callosum agenesis - intellectual disability	White matter hypoplasia - corpus callosum agenesis - intellectual disability
Orphanet:183763	Orphanet:3207	\N	"" []	Orphanet:3207	"" []	219600	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	White matter hypoplasia - corpus callosum agenesis - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3207	"" []	575064	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	White matter hypoplasia - corpus callosum agenesis - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3207	"" []	1157954	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	White matter hypoplasia - corpus callosum agenesis - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3207	"" []	2041120	\N	\N	EFO	4	EFO	genetic disorder	White matter hypoplasia - corpus callosum agenesis - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3207	"" []	3191432	\N	\N	EFO	5	EFO	disease	White matter hypoplasia - corpus callosum agenesis - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3207	"" []	4398117	\N	\N	EFO	6	EFO	disposition	White matter hypoplasia - corpus callosum agenesis - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3207	"" []	5415456	\N	\N	EFO	7	EFO	material property	White matter hypoplasia - corpus callosum agenesis - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3207	"" []	6151383	\N	\N	EFO	8	EFO	experimental factor	White matter hypoplasia - corpus callosum agenesis - intellectual disability
Orphanet:3208	\N	\N	"" []	Orphanet:3208	"" []	76564	\N	\N	EFO	0	EFO	Isolated succinate-CoQ reductase deficiency	Isolated succinate-CoQ reductase deficiency
Orphanet:206966	Orphanet:3208	\N	"" []	Orphanet:3208	"" []	219601	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Isolated succinate-CoQ reductase deficiency
Orphanet:254846	Orphanet:3208	\N	"" []	Orphanet:3208	"" []	219602	\N	\N	EFO	1	EFO	Isolated oxidative phosphorylation complex disorder	Isolated succinate-CoQ reductase deficiency
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:3208	"" []	575065	\N	\N	EFO	2	EFO	Muscular lipidosis	Isolated succinate-CoQ reductase deficiency
Orphanet:223713	Orphanet:254846	\N	"" []	Orphanet:3208	"" []	575066	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Isolated succinate-CoQ reductase deficiency
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:3208	"" []	1157955	\N	\N	EFO	3	EFO	Metabolic myopathy	Isolated succinate-CoQ reductase deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:3208	"" []	1157956	\N	\N	EFO	3	EFO	Mitochondrial disease	Isolated succinate-CoQ reductase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:3208	"" []	2041121	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Isolated succinate-CoQ reductase deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:3208	"" []	2041122	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Isolated succinate-CoQ reductase deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:3208	"" []	2041123	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Isolated succinate-CoQ reductase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:3208	"" []	3191433	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Isolated succinate-CoQ reductase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:3208	"" []	3191434	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated succinate-CoQ reductase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:3208	"" []	3191435	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Isolated succinate-CoQ reductase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:3208	"" []	4398118	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Isolated succinate-CoQ reductase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3208	"" []	4398119	\N	\N	EFO	6	EFO	genetic disorder	Isolated succinate-CoQ reductase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3208	"" []	4398120	\N	\N	EFO	6	EFO	genetic disorder	Isolated succinate-CoQ reductase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3208	"" []	4398121	\N	\N	EFO	6	EFO	metabolic disease	Isolated succinate-CoQ reductase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:3208	"" []	5415457	\N	\N	EFO	7	EFO	muscular disease	Isolated succinate-CoQ reductase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:3208	"" []	5415458	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Isolated succinate-CoQ reductase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3208	"" []	6633626	\N	\N	EFO	9	EFO	disease	Isolated succinate-CoQ reductase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3208	"" []	5415460	\N	\N	EFO	7	EFO	disease	Isolated succinate-CoQ reductase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3208	"" []	6151384	\N	\N	EFO	8	EFO	skeletal system disease	Isolated succinate-CoQ reductase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3208	"" []	6151385	\N	\N	EFO	8	EFO	genetic disorder	Isolated succinate-CoQ reductase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3208	"" []	6848614	\N	\N	EFO	10	EFO	disposition	Isolated succinate-CoQ reductase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3208	"" []	6633625	\N	\N	EFO	9	EFO	disease	Isolated succinate-CoQ reductase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3208	"" []	7068490	\N	\N	EFO	11	EFO	material property	Isolated succinate-CoQ reductase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3208	"" []	7197166	\N	\N	EFO	12	EFO	experimental factor	Isolated succinate-CoQ reductase deficiency
Orphanet:321	\N	\N	"" []	Orphanet:321	"" []	76565	\N	\N	EFO	0	EFO	Multiple osteochondromas	Multiple osteochondromas
Orphanet:183527	Orphanet:321	\N	"" []	Orphanet:321	"" []	219603	\N	\N	EFO	1	EFO	Genetic bone tumor	Multiple osteochondromas
Orphanet:309450	Orphanet:321	\N	"" []	Orphanet:321	"" []	219604	\N	\N	EFO	1	EFO	Disorder of O-xylosylglycan synthesis	Multiple osteochondromas
Orphanet:371195	Orphanet:321	\N	"" []	Orphanet:321	"" []	219605	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation-related bone disorder	Multiple osteochondromas
Orphanet:93450	Orphanet:321	\N	"" []	Orphanet:321	"" []	219606	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Multiple osteochondromas
EFO:0003820	Orphanet:183527	\N	"Tumors or cancer located in bone tissue or specific BONES." []	Orphanet:321	"" []	575067	\N	\N	EFO	2	EFO	bone neoplasm	Multiple osteochondromas
EFO:0004260	Orphanet:183527	\N	"Diseases of BONES." []	Orphanet:321	"" []	575068	\N	\N	EFO	2	EFO	bone disease	Multiple osteochondromas
Orphanet:68336	Orphanet:183527	\N	"" []	Orphanet:321	"" []	575069	\N	\N	EFO	2	EFO	Rare genetic tumor	Multiple osteochondromas
Orphanet:309447	Orphanet:309450	\N	"" []	Orphanet:321	"" []	575070	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Multiple osteochondromas
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:321	"" []	575071	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Multiple osteochondromas
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:321	"" []	575072	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Multiple osteochondromas
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:321	"" []	575073	\N	\N	EFO	2	EFO	Primary bone dysplasia	Multiple osteochondromas
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:321	"" []	1157957	\N	\N	EFO	3	EFO	neoplasm	Multiple osteochondromas
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:321	"" []	3191440	\N	\N	EFO	5	EFO	skeletal system disease	Multiple osteochondromas
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:321	"" []	1157959	\N	\N	EFO	3	EFO	genetic disorder	Multiple osteochondromas
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:321	"" []	1157960	\N	\N	EFO	3	EFO	neoplasm	Multiple osteochondromas
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:321	"" []	1157961	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Multiple osteochondromas
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:321	"" []	1157962	\N	\N	EFO	3	EFO	Rare genetic bone disease	Multiple osteochondromas
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:321	"" []	1157963	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Multiple osteochondromas
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:321	"" []	1157964	\N	\N	EFO	3	EFO	Rare genetic bone disease	Multiple osteochondromas
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:321	"" []	1157965	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Multiple osteochondromas
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:321	"" []	2041124	\N	\N	EFO	4	EFO	disease	Multiple osteochondromas
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:321	"" []	4066939	\N	\N	EFO	6	EFO	disease	Multiple osteochondromas
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:321	"" []	4398123	\N	\N	EFO	6	EFO	disease	Multiple osteochondromas
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:321	"" []	2041127	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Multiple osteochondromas
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:321	"" []	2041128	\N	\N	EFO	4	EFO	genetic disorder	Multiple osteochondromas
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:321	"" []	2041129	\N	\N	EFO	4	EFO	bone disease	Multiple osteochondromas
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:321	"" []	2041130	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Multiple osteochondromas
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:321	"" []	2041131	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Multiple osteochondromas
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:321	"" []	5059992	\N	\N	EFO	7	EFO	disposition	Multiple osteochondromas
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:321	"" []	3191437	\N	\N	EFO	5	EFO	genetic disorder	Multiple osteochondromas
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:321	"" []	3191438	\N	\N	EFO	5	EFO	metabolic disease	Multiple osteochondromas
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:321	"" []	3191441	\N	\N	EFO	5	EFO	genetic disorder	Multiple osteochondromas
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:321	"" []	5877335	\N	\N	EFO	8	EFO	material property	Multiple osteochondromas
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:321	"" []	4398124	\N	\N	EFO	6	EFO	disease	Multiple osteochondromas
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:321	"" []	6470572	\N	\N	EFO	9	EFO	experimental factor	Multiple osteochondromas
Orphanet:3210	\N	\N	"" []	Orphanet:3210	"" []	76566	\N	\N	EFO	0	EFO	Summitt syndrome	Summitt syndrome
Orphanet:139393	Orphanet:3210	\N	"" []	Orphanet:3210	"" []	219607	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Summitt syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:3210	"" []	575074	\N	\N	EFO	2	EFO	Craniosynostosis	Summitt syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:3210	"" []	1157966	\N	\N	EFO	3	EFO	Genetic cranial malformation	Summitt syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:3210	"" []	1157967	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Summitt syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:3210	"" []	2041132	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Summitt syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3210	"" []	2041133	\N	\N	EFO	4	EFO	Rare genetic bone disease	Summitt syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3210	"" []	2041134	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Summitt syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3210	"" []	4398127	\N	\N	EFO	6	EFO	genetic disorder	Summitt syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3210	"" []	3191443	\N	\N	EFO	5	EFO	genetic disorder	Summitt syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3210	"" []	3191444	\N	\N	EFO	5	EFO	bone disease	Summitt syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3210	"" []	3191445	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Summitt syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3210	"" []	5182653	\N	\N	EFO	7	EFO	disease	Summitt syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3210	"" []	4398126	\N	\N	EFO	6	EFO	skeletal system disease	Summitt syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3210	"" []	5998029	\N	\N	EFO	8	EFO	disposition	Summitt syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3210	"" []	5415463	\N	\N	EFO	7	EFO	disease	Summitt syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3210	"" []	6551334	\N	\N	EFO	9	EFO	material property	Summitt syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3210	"" []	6889400	\N	\N	EFO	10	EFO	experimental factor	Summitt syndrome
Orphanet:3214	\N	\N	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	76567	\N	\N	EFO	0	EFO	Deaf blind hypopigmentation syndrome, Yemenite type	Deaf blind hypopigmentation syndrome, Yemenite type
Orphanet:183469	Orphanet:3214	\N	"" []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	219608	\N	\N	EFO	1	EFO	Genetic hypopigmentation of the skin	Deaf blind hypopigmentation syndrome, Yemenite type
Orphanet:90642	Orphanet:3214	\N	"" []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	219609	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deaf blind hypopigmentation syndrome, Yemenite type
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	575075	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Deaf blind hypopigmentation syndrome, Yemenite type
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	575076	\N	\N	EFO	2	EFO	Rare genetic deafness	Deaf blind hypopigmentation syndrome, Yemenite type
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	1157968	\N	\N	EFO	3	EFO	Rare genetic skin disease	Deaf blind hypopigmentation syndrome, Yemenite type
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	1157969	\N	\N	EFO	3	EFO	genetic disorder	Deaf blind hypopigmentation syndrome, Yemenite type
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	1157970	\N	\N	EFO	3	EFO	auditory system disease	Deaf blind hypopigmentation syndrome, Yemenite type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	2041135	\N	\N	EFO	4	EFO	genetic disorder	Deaf blind hypopigmentation syndrome, Yemenite type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	2041136	\N	\N	EFO	4	EFO	skin disease	Deaf blind hypopigmentation syndrome, Yemenite type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	3191446	\N	\N	EFO	5	EFO	disease	Deaf blind hypopigmentation syndrome, Yemenite type
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	2041138	\N	\N	EFO	4	EFO	sensory system disease	Deaf blind hypopigmentation syndrome, Yemenite type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	3191447	\N	\N	EFO	5	EFO	disease	Deaf blind hypopigmentation syndrome, Yemenite type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	5415465	\N	\N	EFO	7	EFO	disposition	Deaf blind hypopigmentation syndrome, Yemenite type
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	3191449	\N	\N	EFO	5	EFO	nervous system disease	Deaf blind hypopigmentation syndrome, Yemenite type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	5877336	\N	\N	EFO	8	EFO	material property	Deaf blind hypopigmentation syndrome, Yemenite type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	4398129	\N	\N	EFO	6	EFO	disease	Deaf blind hypopigmentation syndrome, Yemenite type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3214	"Le syndrome de Legius, aussi connu sous le nom de syndrome NF1-like, est un trouble gntique trs rare de la pigmentation de la peau caractris par des macules caf au lait multiples avec ou sans lentigos au niveau des aisselles ou de la rgion inguinale." []	6470573	\N	\N	EFO	9	EFO	experimental factor	Deaf blind hypopigmentation syndrome, Yemenite type
Orphanet:3217	\N	\N	"" []	Orphanet:3217	"" []	76568	\N	\N	EFO	0	EFO	Deafness -  small bowel diverticulosis - neuropathy	Deafness -  small bowel diverticulosis - neuropathy
Orphanet:90642	Orphanet:3217	\N	"" []	Orphanet:3217	"" []	219610	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness -  small bowel diverticulosis - neuropathy
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3217	"" []	575077	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness -  small bowel diverticulosis - neuropathy
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3217	"" []	1157971	\N	\N	EFO	3	EFO	genetic disorder	Deafness -  small bowel diverticulosis - neuropathy
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3217	"" []	1157972	\N	\N	EFO	3	EFO	auditory system disease	Deafness -  small bowel diverticulosis - neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3217	"" []	2041139	\N	\N	EFO	4	EFO	disease	Deafness -  small bowel diverticulosis - neuropathy
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3217	"" []	2041140	\N	\N	EFO	4	EFO	sensory system disease	Deafness -  small bowel diverticulosis - neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3217	"" []	5415467	\N	\N	EFO	7	EFO	disposition	Deafness -  small bowel diverticulosis - neuropathy
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3217	"" []	3191451	\N	\N	EFO	5	EFO	nervous system disease	Deafness -  small bowel diverticulosis - neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3217	"" []	5877337	\N	\N	EFO	8	EFO	material property	Deafness -  small bowel diverticulosis - neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3217	"" []	4398131	\N	\N	EFO	6	EFO	disease	Deafness -  small bowel diverticulosis - neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3217	"" []	6470574	\N	\N	EFO	9	EFO	experimental factor	Deafness -  small bowel diverticulosis - neuropathy
Orphanet:3218	\N	\N	"" []	Orphanet:3218	"" []	76569	\N	\N	EFO	0	EFO	Deafness - epiphyseal dysplasia - short stature	Deafness - epiphyseal dysplasia - short stature
Orphanet:90642	Orphanet:3218	\N	"" []	Orphanet:3218	"" []	219611	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness - epiphyseal dysplasia - short stature
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3218	"" []	575078	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness - epiphyseal dysplasia - short stature
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3218	"" []	1157973	\N	\N	EFO	3	EFO	genetic disorder	Deafness - epiphyseal dysplasia - short stature
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3218	"" []	1157974	\N	\N	EFO	3	EFO	auditory system disease	Deafness - epiphyseal dysplasia - short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3218	"" []	2041141	\N	\N	EFO	4	EFO	disease	Deafness - epiphyseal dysplasia - short stature
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3218	"" []	2041142	\N	\N	EFO	4	EFO	sensory system disease	Deafness - epiphyseal dysplasia - short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3218	"" []	5415469	\N	\N	EFO	7	EFO	disposition	Deafness - epiphyseal dysplasia - short stature
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3218	"" []	3191453	\N	\N	EFO	5	EFO	nervous system disease	Deafness - epiphyseal dysplasia - short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3218	"" []	5877338	\N	\N	EFO	8	EFO	material property	Deafness - epiphyseal dysplasia - short stature
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3218	"" []	4398133	\N	\N	EFO	6	EFO	disease	Deafness - epiphyseal dysplasia - short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3218	"" []	6470575	\N	\N	EFO	9	EFO	experimental factor	Deafness - epiphyseal dysplasia - short stature
Orphanet:3219	\N	\N	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	76570	\N	\N	EFO	0	EFO	Fountain syndrome	Fountain syndrome
Orphanet:102283	Orphanet:3219	\N	"" []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	219612	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Fountain syndrome
Orphanet:183763	Orphanet:3219	\N	"" []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	219613	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Fountain syndrome
Orphanet:90642	Orphanet:3219	\N	"" []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	219614	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Fountain syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	575079	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Fountain syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	575080	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Fountain syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	575081	\N	\N	EFO	2	EFO	Rare genetic deafness	Fountain syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	1157975	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fountain syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	1157976	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Fountain syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	1157977	\N	\N	EFO	3	EFO	genetic disorder	Fountain syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	1157978	\N	\N	EFO	3	EFO	auditory system disease	Fountain syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	2041143	\N	\N	EFO	4	EFO	genetic disorder	Fountain syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	2041144	\N	\N	EFO	4	EFO	genetic disorder	Fountain syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	3191454	\N	\N	EFO	5	EFO	disease	Fountain syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	2041146	\N	\N	EFO	4	EFO	sensory system disease	Fountain syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	5415471	\N	\N	EFO	7	EFO	disposition	Fountain syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	3191456	\N	\N	EFO	5	EFO	nervous system disease	Fountain syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	5877339	\N	\N	EFO	8	EFO	material property	Fountain syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	4398135	\N	\N	EFO	6	EFO	disease	Fountain syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3219	"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." []	6470576	\N	\N	EFO	9	EFO	experimental factor	Fountain syndrome
Orphanet:322	\N	\N	"" []	Orphanet:322	"" []	76571	\N	\N	EFO	0	EFO	Exstrophy-epispadias complex	Exstrophy-epispadias complex
Orphanet:357506	Orphanet:322	\N	"" []	Orphanet:322	"" []	219615	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Exstrophy-epispadias complex
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:322	"" []	575082	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Exstrophy-epispadias complex
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:322	"" []	1157979	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Exstrophy-epispadias complex
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:322	"" []	1157980	\N	\N	EFO	3	EFO	Rare genetic renal disease	Exstrophy-epispadias complex
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:322	"" []	2041147	\N	\N	EFO	4	EFO	genetic disorder	Exstrophy-epispadias complex
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:322	"" []	2041148	\N	\N	EFO	4	EFO	genetic disorder	Exstrophy-epispadias complex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:322	"" []	3191457	\N	\N	EFO	5	EFO	disease	Exstrophy-epispadias complex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:322	"" []	4398136	\N	\N	EFO	6	EFO	disposition	Exstrophy-epispadias complex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:322	"" []	5415472	\N	\N	EFO	7	EFO	material property	Exstrophy-epispadias complex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:322	"" []	6151388	\N	\N	EFO	8	EFO	experimental factor	Exstrophy-epispadias complex
Orphanet:3220	\N	\N	"" []	Orphanet:3220	"" []	76572	\N	\N	EFO	0	EFO	Deafness - enamel hypoplasia - nail defects	Deafness - enamel hypoplasia - nail defects
Orphanet:183580	Orphanet:3220	\N	"" []	Orphanet:3220	"" []	219616	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Deafness - enamel hypoplasia - nail defects
Orphanet:79373	Orphanet:3220	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3220	"" []	219617	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Deafness - enamel hypoplasia - nail defects
Orphanet:90642	Orphanet:3220	\N	"" []	Orphanet:3220	"" []	219618	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness - enamel hypoplasia - nail defects
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:3220	"" []	575083	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Deafness - enamel hypoplasia - nail defects
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3220	"" []	575084	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Deafness - enamel hypoplasia - nail defects
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3220	"" []	575085	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Deafness - enamel hypoplasia - nail defects
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3220	"" []	575086	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness - enamel hypoplasia - nail defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3220	"" []	2041150	\N	\N	EFO	4	EFO	genetic disorder	Deafness - enamel hypoplasia - nail defects
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3220	"" []	1157982	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Deafness - enamel hypoplasia - nail defects
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3220	"" []	1157983	\N	\N	EFO	3	EFO	Rare genetic skin disease	Deafness - enamel hypoplasia - nail defects
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3220	"" []	1157984	\N	\N	EFO	3	EFO	genetic disorder	Deafness - enamel hypoplasia - nail defects
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3220	"" []	1157985	\N	\N	EFO	3	EFO	auditory system disease	Deafness - enamel hypoplasia - nail defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3220	"" []	3000307	\N	\N	EFO	5	EFO	disease	Deafness - enamel hypoplasia - nail defects
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3220	"" []	2041151	\N	\N	EFO	4	EFO	genetic disorder	Deafness - enamel hypoplasia - nail defects
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3220	"" []	2041152	\N	\N	EFO	4	EFO	skin disease	Deafness - enamel hypoplasia - nail defects
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3220	"" []	2041153	\N	\N	EFO	4	EFO	sensory system disease	Deafness - enamel hypoplasia - nail defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3220	"" []	5415474	\N	\N	EFO	7	EFO	disposition	Deafness - enamel hypoplasia - nail defects
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3220	"" []	3191459	\N	\N	EFO	5	EFO	disease	Deafness - enamel hypoplasia - nail defects
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3220	"" []	3191460	\N	\N	EFO	5	EFO	nervous system disease	Deafness - enamel hypoplasia - nail defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3220	"" []	5877340	\N	\N	EFO	8	EFO	material property	Deafness - enamel hypoplasia - nail defects
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3220	"" []	4398138	\N	\N	EFO	6	EFO	disease	Deafness - enamel hypoplasia - nail defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3220	"" []	6470577	\N	\N	EFO	9	EFO	experimental factor	Deafness - enamel hypoplasia - nail defects
Orphanet:3221	\N	\N	"" []	Orphanet:3221	"" []	76573	\N	\N	EFO	0	EFO	Generalized resistance to thyroid hormone	Generalized resistance to thyroid hormone
Orphanet:181399	Orphanet:3221	\N	"" []	Orphanet:3221	"" []	219619	\N	\N	EFO	1	EFO	Rare hyperthyroidism	Generalized resistance to thyroid hormone
Orphanet:90642	Orphanet:3221	\N	"" []	Orphanet:3221	"" []	219620	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Generalized resistance to thyroid hormone
Orphanet:183631	Orphanet:181399	\N	"" []	Orphanet:3221	"" []	575087	\N	\N	EFO	2	EFO	Rare genetic thyroid disease	Generalized resistance to thyroid hormone
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3221	"" []	575088	\N	\N	EFO	2	EFO	Rare genetic deafness	Generalized resistance to thyroid hormone
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:3221	"" []	1157986	\N	\N	EFO	3	EFO	thyroid disease	Generalized resistance to thyroid hormone
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:3221	"" []	1157987	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Generalized resistance to thyroid hormone
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3221	"" []	1157988	\N	\N	EFO	3	EFO	genetic disorder	Generalized resistance to thyroid hormone
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3221	"" []	1157989	\N	\N	EFO	3	EFO	auditory system disease	Generalized resistance to thyroid hormone
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3221	"" []	2041154	\N	\N	EFO	4	EFO	endocrine system disease	Generalized resistance to thyroid hormone
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3221	"" []	2041155	\N	\N	EFO	4	EFO	genetic disorder	Generalized resistance to thyroid hormone
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3221	"" []	2041156	\N	\N	EFO	4	EFO	endocrine system disease	Generalized resistance to thyroid hormone
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3221	"" []	3191462	\N	\N	EFO	5	EFO	disease	Generalized resistance to thyroid hormone
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3221	"" []	2041158	\N	\N	EFO	4	EFO	sensory system disease	Generalized resistance to thyroid hormone
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3221	"" []	3191461	\N	\N	EFO	5	EFO	disease	Generalized resistance to thyroid hormone
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3221	"" []	5415476	\N	\N	EFO	7	EFO	disposition	Generalized resistance to thyroid hormone
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3221	"" []	3191464	\N	\N	EFO	5	EFO	nervous system disease	Generalized resistance to thyroid hormone
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3221	"" []	5877341	\N	\N	EFO	8	EFO	material property	Generalized resistance to thyroid hormone
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3221	"" []	4398140	\N	\N	EFO	6	EFO	disease	Generalized resistance to thyroid hormone
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3221	"" []	6470578	\N	\N	EFO	9	EFO	experimental factor	Generalized resistance to thyroid hormone
Orphanet:322126	\N	\N	"" []	Orphanet:322126	"" []	76574	\N	\N	EFO	0	EFO	Genetic tumor of hematopoietic and lymphoid tissues	Genetic tumor of hematopoietic and lymphoid tissues
EFO:0005803	Orphanet:322126	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:322126	"" []	219621	\N	\N	EFO	1	EFO	hematological system disease	Genetic tumor of hematopoietic and lymphoid tissues
Orphanet:68336	Orphanet:322126	\N	"" []	Orphanet:322126	"" []	219622	\N	\N	EFO	1	EFO	Rare genetic tumor	Genetic tumor of hematopoietic and lymphoid tissues
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:322126	"" []	575089	\N	\N	EFO	2	EFO	disease	Genetic tumor of hematopoietic and lymphoid tissues
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:322126	"" []	575090	\N	\N	EFO	2	EFO	genetic disorder	Genetic tumor of hematopoietic and lymphoid tissues
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:322126	"" []	575091	\N	\N	EFO	2	EFO	neoplasm	Genetic tumor of hematopoietic and lymphoid tissues
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:322126	"" []	2041160	\N	\N	EFO	4	EFO	disposition	Genetic tumor of hematopoietic and lymphoid tissues
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:322126	"" []	1157991	\N	\N	EFO	3	EFO	disease	Genetic tumor of hematopoietic and lymphoid tissues
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:322126	"" []	1157992	\N	\N	EFO	3	EFO	disease	Genetic tumor of hematopoietic and lymphoid tissues
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:322126	"" []	3000308	\N	\N	EFO	5	EFO	material property	Genetic tumor of hematopoietic and lymphoid tissues
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:322126	"" []	4133882	\N	\N	EFO	6	EFO	experimental factor	Genetic tumor of hematopoietic and lymphoid tissues
Orphanet:3222	\N	\N	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	76575	\N	\N	EFO	0	EFO	Phosphoribosylpyrophosphate synthetase superactivity	Phosphoribosylpyrophosphate synthetase superactivity
Orphanet:182076	Orphanet:3222	\N	"" []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	219623	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Phosphoribosylpyrophosphate synthetase superactivity
Orphanet:79191	Orphanet:3222	\N	"" []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	219624	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Phosphoribosylpyrophosphate synthetase superactivity
Orphanet:93593	Orphanet:3222	\N	"" []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	219625	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Phosphoribosylpyrophosphate synthetase superactivity
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	575092	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Phosphoribosylpyrophosphate synthetase superactivity
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	575093	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Phosphoribosylpyrophosphate synthetase superactivity
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	575094	\N	\N	EFO	2	EFO	Rare genetic renal disease	Phosphoribosylpyrophosphate synthetase superactivity
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	1157993	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Phosphoribosylpyrophosphate synthetase superactivity
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	1157994	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Phosphoribosylpyrophosphate synthetase superactivity
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	1157995	\N	\N	EFO	3	EFO	genetic disorder	Phosphoribosylpyrophosphate synthetase superactivity
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	2041161	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Phosphoribosylpyrophosphate synthetase superactivity
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	2041162	\N	\N	EFO	4	EFO	genetic disorder	Phosphoribosylpyrophosphate synthetase superactivity
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	2041163	\N	\N	EFO	4	EFO	metabolic disease	Phosphoribosylpyrophosphate synthetase superactivity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	5415477	\N	\N	EFO	7	EFO	disease	Phosphoribosylpyrophosphate synthetase superactivity
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	3191466	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Phosphoribosylpyrophosphate synthetase superactivity
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	3191468	\N	\N	EFO	5	EFO	disease	Phosphoribosylpyrophosphate synthetase superactivity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	5817705	\N	\N	EFO	8	EFO	disposition	Phosphoribosylpyrophosphate synthetase superactivity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	4398141	\N	\N	EFO	6	EFO	genetic disorder	Phosphoribosylpyrophosphate synthetase superactivity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	6410152	\N	\N	EFO	9	EFO	material property	Phosphoribosylpyrophosphate synthetase superactivity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3222	"Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement." []	6807985	\N	\N	EFO	10	EFO	experimental factor	Phosphoribosylpyrophosphate synthetase superactivity
Orphanet:3224	\N	\N	"" []	Orphanet:3224	"" []	76576	\N	\N	EFO	0	EFO	Deafness - genital anomalies - metacarpal and metatarsal synostosis	Deafness - genital anomalies - metacarpal and metatarsal synostosis
Orphanet:102283	Orphanet:3224	\N	"" []	Orphanet:3224	"" []	219626	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Deafness - genital anomalies - metacarpal and metatarsal synostosis
Orphanet:165707	Orphanet:3224	\N	"" []	Orphanet:3224	"" []	219627	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Deafness - genital anomalies - metacarpal and metatarsal synostosis
Orphanet:183763	Orphanet:3224	\N	"" []	Orphanet:3224	"" []	219628	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Deafness - genital anomalies - metacarpal and metatarsal synostosis
Orphanet:90642	Orphanet:3224	\N	"" []	Orphanet:3224	"" []	219629	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness - genital anomalies - metacarpal and metatarsal synostosis
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3224	"" []	575095	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Deafness - genital anomalies - metacarpal and metatarsal synostosis
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:3224	"" []	575096	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Deafness - genital anomalies - metacarpal and metatarsal synostosis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3224	"" []	575097	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Deafness - genital anomalies - metacarpal and metatarsal synostosis
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3224	"" []	575098	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness - genital anomalies - metacarpal and metatarsal synostosis
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3224	"" []	1157996	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Deafness - genital anomalies - metacarpal and metatarsal synostosis
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:3224	"" []	1157997	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Deafness - genital anomalies - metacarpal and metatarsal synostosis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3224	"" []	1157998	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Deafness - genital anomalies - metacarpal and metatarsal synostosis
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3224	"" []	1157999	\N	\N	EFO	3	EFO	genetic disorder	Deafness - genital anomalies - metacarpal and metatarsal synostosis
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3224	"" []	1158000	\N	\N	EFO	3	EFO	auditory system disease	Deafness - genital anomalies - metacarpal and metatarsal synostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3224	"" []	2041165	\N	\N	EFO	4	EFO	genetic disorder	Deafness - genital anomalies - metacarpal and metatarsal synostosis
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3224	"" []	2041166	\N	\N	EFO	4	EFO	genetic disorder	Deafness - genital anomalies - metacarpal and metatarsal synostosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3224	"" []	2041167	\N	\N	EFO	4	EFO	genetic disorder	Deafness - genital anomalies - metacarpal and metatarsal synostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3224	"" []	3191470	\N	\N	EFO	5	EFO	disease	Deafness - genital anomalies - metacarpal and metatarsal synostosis
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3224	"" []	2041169	\N	\N	EFO	4	EFO	sensory system disease	Deafness - genital anomalies - metacarpal and metatarsal synostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3224	"" []	5415480	\N	\N	EFO	7	EFO	disposition	Deafness - genital anomalies - metacarpal and metatarsal synostosis
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3224	"" []	3191472	\N	\N	EFO	5	EFO	nervous system disease	Deafness - genital anomalies - metacarpal and metatarsal synostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3224	"" []	5877342	\N	\N	EFO	8	EFO	material property	Deafness - genital anomalies - metacarpal and metatarsal synostosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3224	"" []	4398144	\N	\N	EFO	6	EFO	disease	Deafness - genital anomalies - metacarpal and metatarsal synostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3224	"" []	6470579	\N	\N	EFO	9	EFO	experimental factor	Deafness - genital anomalies - metacarpal and metatarsal synostosis
Orphanet:3225	\N	\N	"" []	Orphanet:3225	"" []	76577	\N	\N	EFO	0	EFO	Hearing loss - familial salivary gland insensitivity to aldosterone	Hearing loss - familial salivary gland insensitivity to aldosterone
Orphanet:90642	Orphanet:3225	\N	"" []	Orphanet:3225	"" []	219630	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Hearing loss - familial salivary gland insensitivity to aldosterone
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3225	"" []	575099	\N	\N	EFO	2	EFO	Rare genetic deafness	Hearing loss - familial salivary gland insensitivity to aldosterone
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3225	"" []	1158001	\N	\N	EFO	3	EFO	genetic disorder	Hearing loss - familial salivary gland insensitivity to aldosterone
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3225	"" []	1158002	\N	\N	EFO	3	EFO	auditory system disease	Hearing loss - familial salivary gland insensitivity to aldosterone
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3225	"" []	2041170	\N	\N	EFO	4	EFO	disease	Hearing loss - familial salivary gland insensitivity to aldosterone
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3225	"" []	2041171	\N	\N	EFO	4	EFO	sensory system disease	Hearing loss - familial salivary gland insensitivity to aldosterone
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3225	"" []	5415482	\N	\N	EFO	7	EFO	disposition	Hearing loss - familial salivary gland insensitivity to aldosterone
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3225	"" []	3191474	\N	\N	EFO	5	EFO	nervous system disease	Hearing loss - familial salivary gland insensitivity to aldosterone
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3225	"" []	5877343	\N	\N	EFO	8	EFO	material property	Hearing loss - familial salivary gland insensitivity to aldosterone
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3225	"" []	4398146	\N	\N	EFO	6	EFO	disease	Hearing loss - familial salivary gland insensitivity to aldosterone
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3225	"" []	6470580	\N	\N	EFO	9	EFO	experimental factor	Hearing loss - familial salivary gland insensitivity to aldosterone
Orphanet:3226	\N	\N	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	76578	\N	\N	EFO	0	EFO	Deafness - lymphedema - leukemia	Deafness - lymphedema - leukemia
Orphanet:89832	Orphanet:3226	\N	"" []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	219631	\N	\N	EFO	1	EFO	Syndromic lymphedema	Deafness - lymphedema - leukemia
Orphanet:90642	Orphanet:3226	\N	"" []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	219632	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness - lymphedema - leukemia
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	575100	\N	\N	EFO	2	EFO	Lymphedema	Deafness - lymphedema - leukemia
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	575101	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness - lymphedema - leukemia
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	1158003	\N	\N	EFO	3	EFO	Rare genetic skin disease	Deafness - lymphedema - leukemia
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	1158004	\N	\N	EFO	3	EFO	genetic disorder	Deafness - lymphedema - leukemia
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	1158005	\N	\N	EFO	3	EFO	auditory system disease	Deafness - lymphedema - leukemia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	2041172	\N	\N	EFO	4	EFO	genetic disorder	Deafness - lymphedema - leukemia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	2041173	\N	\N	EFO	4	EFO	skin disease	Deafness - lymphedema - leukemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	3191475	\N	\N	EFO	5	EFO	disease	Deafness - lymphedema - leukemia
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	2041175	\N	\N	EFO	4	EFO	sensory system disease	Deafness - lymphedema - leukemia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	3191476	\N	\N	EFO	5	EFO	disease	Deafness - lymphedema - leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	5415484	\N	\N	EFO	7	EFO	disposition	Deafness - lymphedema - leukemia
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	3191478	\N	\N	EFO	5	EFO	nervous system disease	Deafness - lymphedema - leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	5877344	\N	\N	EFO	8	EFO	material property	Deafness - lymphedema - leukemia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	4398148	\N	\N	EFO	6	EFO	disease	Deafness - lymphedema - leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3226	"Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." []	6470581	\N	\N	EFO	9	EFO	experimental factor	Deafness - lymphedema - leukemia
Orphanet:3230	\N	\N	"" []	Orphanet:3230	"" []	76579	\N	\N	EFO	0	EFO	Deafness - oligodontia	Deafness - oligodontia
Orphanet:183580	Orphanet:3230	\N	"" []	Orphanet:3230	"" []	219633	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Deafness - oligodontia
Orphanet:90642	Orphanet:3230	\N	"" []	Orphanet:3230	"" []	219634	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness - oligodontia
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:3230	"" []	575102	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Deafness - oligodontia
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3230	"" []	575103	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness - oligodontia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3230	"" []	1158006	\N	\N	EFO	3	EFO	genetic disorder	Deafness - oligodontia
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3230	"" []	1158007	\N	\N	EFO	3	EFO	genetic disorder	Deafness - oligodontia
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3230	"" []	1158008	\N	\N	EFO	3	EFO	auditory system disease	Deafness - oligodontia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3230	"" []	2041176	\N	\N	EFO	4	EFO	disease	Deafness - oligodontia
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3230	"" []	2041177	\N	\N	EFO	4	EFO	sensory system disease	Deafness - oligodontia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3230	"" []	5415486	\N	\N	EFO	7	EFO	disposition	Deafness - oligodontia
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3230	"" []	3191480	\N	\N	EFO	5	EFO	nervous system disease	Deafness - oligodontia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3230	"" []	5877345	\N	\N	EFO	8	EFO	material property	Deafness - oligodontia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3230	"" []	4398150	\N	\N	EFO	6	EFO	disease	Deafness - oligodontia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3230	"" []	6470582	\N	\N	EFO	9	EFO	experimental factor	Deafness - oligodontia
Orphanet:3231	\N	\N	"" []	Orphanet:3231	"" []	76580	\N	\N	EFO	0	EFO	Deafness-onychodystrophy syndrome	Deafness-onychodystrophy syndrome
Orphanet:183763	Orphanet:3231	\N	"" []	Orphanet:3231	"" []	219635	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Deafness-onychodystrophy syndrome
Orphanet:79370	Orphanet:3231	\N	"" []	Orphanet:3231	"" []	219636	\N	\N	EFO	1	EFO	Syndromic nail anomaly	Deafness-onychodystrophy syndrome
Orphanet:79373	Orphanet:3231	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3231	"" []	219637	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Deafness-onychodystrophy syndrome
Orphanet:90642	Orphanet:3231	\N	"" []	Orphanet:3231	"" []	219638	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness-onychodystrophy syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3231	"" []	575104	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Deafness-onychodystrophy syndrome
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:3231	"" []	575105	\N	\N	EFO	2	EFO	Genetic nail anomaly	Deafness-onychodystrophy syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3231	"" []	575106	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Deafness-onychodystrophy syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3231	"" []	575107	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Deafness-onychodystrophy syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3231	"" []	575108	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness-onychodystrophy syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3231	"" []	1158009	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Deafness-onychodystrophy syndrome
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:3231	"" []	1158010	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Deafness-onychodystrophy syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3231	"" []	1158011	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Deafness-onychodystrophy syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3231	"" []	2041179	\N	\N	EFO	4	EFO	Rare genetic skin disease	Deafness-onychodystrophy syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3231	"" []	1158013	\N	\N	EFO	3	EFO	genetic disorder	Deafness-onychodystrophy syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3231	"" []	1158014	\N	\N	EFO	3	EFO	auditory system disease	Deafness-onychodystrophy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3231	"" []	2041178	\N	\N	EFO	4	EFO	genetic disorder	Deafness-onychodystrophy syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3231	"" []	2041180	\N	\N	EFO	4	EFO	genetic disorder	Deafness-onychodystrophy syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3231	"" []	3000309	\N	\N	EFO	5	EFO	genetic disorder	Deafness-onychodystrophy syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3231	"" []	3000310	\N	\N	EFO	5	EFO	skin disease	Deafness-onychodystrophy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3231	"" []	4133886	\N	\N	EFO	6	EFO	disease	Deafness-onychodystrophy syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3231	"" []	2041184	\N	\N	EFO	4	EFO	sensory system disease	Deafness-onychodystrophy syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3231	"" []	4133887	\N	\N	EFO	6	EFO	disease	Deafness-onychodystrophy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3231	"" []	5059993	\N	\N	EFO	7	EFO	disposition	Deafness-onychodystrophy syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3231	"" []	3191484	\N	\N	EFO	5	EFO	nervous system disease	Deafness-onychodystrophy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3231	"" []	5877346	\N	\N	EFO	8	EFO	material property	Deafness-onychodystrophy syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3231	"" []	4398152	\N	\N	EFO	6	EFO	disease	Deafness-onychodystrophy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3231	"" []	6470583	\N	\N	EFO	9	EFO	experimental factor	Deafness-onychodystrophy syndrome
Orphanet:3232	\N	\N	"" []	Orphanet:3232	"" []	76581	\N	\N	EFO	0	EFO	Deafness - ear malformation - facial palsy	Deafness - ear malformation - facial palsy
Orphanet:90642	Orphanet:3232	\N	"" []	Orphanet:3232	"" []	219639	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness - ear malformation - facial palsy
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3232	"" []	575109	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness - ear malformation - facial palsy
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3232	"" []	1158015	\N	\N	EFO	3	EFO	genetic disorder	Deafness - ear malformation - facial palsy
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3232	"" []	1158016	\N	\N	EFO	3	EFO	auditory system disease	Deafness - ear malformation - facial palsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3232	"" []	2041185	\N	\N	EFO	4	EFO	disease	Deafness - ear malformation - facial palsy
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3232	"" []	2041186	\N	\N	EFO	4	EFO	sensory system disease	Deafness - ear malformation - facial palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3232	"" []	5415489	\N	\N	EFO	7	EFO	disposition	Deafness - ear malformation - facial palsy
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3232	"" []	3191486	\N	\N	EFO	5	EFO	nervous system disease	Deafness - ear malformation - facial palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3232	"" []	5877347	\N	\N	EFO	8	EFO	material property	Deafness - ear malformation - facial palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3232	"" []	4398154	\N	\N	EFO	6	EFO	disease	Deafness - ear malformation - facial palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3232	"" []	6470584	\N	\N	EFO	9	EFO	experimental factor	Deafness - ear malformation - facial palsy
Orphanet:3233	\N	\N	"" []	Orphanet:3233	"" []	76582	\N	\N	EFO	0	EFO	Cochleosaccular degeneration - cataract	Cochleosaccular degeneration - cataract
Orphanet:90642	Orphanet:3233	\N	"" []	Orphanet:3233	"" []	219640	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Cochleosaccular degeneration - cataract
Orphanet:98641	Orphanet:3233	\N	"" []	Orphanet:3233	"" []	219641	\N	\N	EFO	1	EFO	Syndromic cataract	Cochleosaccular degeneration - cataract
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3233	"" []	575110	\N	\N	EFO	2	EFO	Rare genetic deafness	Cochleosaccular degeneration - cataract
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:3233	"" []	575111	\N	\N	EFO	2	EFO	Rare cataract	Cochleosaccular degeneration - cataract
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3233	"" []	1158017	\N	\N	EFO	3	EFO	genetic disorder	Cochleosaccular degeneration - cataract
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3233	"" []	1158018	\N	\N	EFO	3	EFO	auditory system disease	Cochleosaccular degeneration - cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:3233	"" []	1158019	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Cochleosaccular degeneration - cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3233	"" []	4398157	\N	\N	EFO	6	EFO	disease	Cochleosaccular degeneration - cataract
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3233	"" []	2041188	\N	\N	EFO	4	EFO	sensory system disease	Cochleosaccular degeneration - cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:3233	"" []	2041189	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cochleosaccular degeneration - cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3233	"" []	5059994	\N	\N	EFO	7	EFO	disposition	Cochleosaccular degeneration - cataract
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3233	"" []	3191488	\N	\N	EFO	5	EFO	nervous system disease	Cochleosaccular degeneration - cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3233	"" []	3191489	\N	\N	EFO	5	EFO	genetic disorder	Cochleosaccular degeneration - cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3233	"" []	3191490	\N	\N	EFO	5	EFO	eye disease	Cochleosaccular degeneration - cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3233	"" []	5877348	\N	\N	EFO	8	EFO	material property	Cochleosaccular degeneration - cataract
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3233	"" []	4398156	\N	\N	EFO	6	EFO	disease	Cochleosaccular degeneration - cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3233	"" []	4398158	\N	\N	EFO	6	EFO	disease	Cochleosaccular degeneration - cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3233	"" []	6470585	\N	\N	EFO	9	EFO	experimental factor	Cochleosaccular degeneration - cataract
Orphanet:3235	\N	\N	"" []	Orphanet:3235	"" []	76583	\N	\N	EFO	0	EFO	Progressive deafness with stapes fixation	Progressive deafness with stapes fixation
Orphanet:90642	Orphanet:3235	\N	"" []	Orphanet:3235	"" []	219642	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Progressive deafness with stapes fixation
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3235	"" []	575112	\N	\N	EFO	2	EFO	Rare genetic deafness	Progressive deafness with stapes fixation
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3235	"" []	1158020	\N	\N	EFO	3	EFO	genetic disorder	Progressive deafness with stapes fixation
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3235	"" []	1158021	\N	\N	EFO	3	EFO	auditory system disease	Progressive deafness with stapes fixation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3235	"" []	2041190	\N	\N	EFO	4	EFO	disease	Progressive deafness with stapes fixation
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3235	"" []	2041191	\N	\N	EFO	4	EFO	sensory system disease	Progressive deafness with stapes fixation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3235	"" []	5415492	\N	\N	EFO	7	EFO	disposition	Progressive deafness with stapes fixation
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3235	"" []	3191492	\N	\N	EFO	5	EFO	nervous system disease	Progressive deafness with stapes fixation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3235	"" []	5877349	\N	\N	EFO	8	EFO	material property	Progressive deafness with stapes fixation
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3235	"" []	4398160	\N	\N	EFO	6	EFO	disease	Progressive deafness with stapes fixation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3235	"" []	6470586	\N	\N	EFO	9	EFO	experimental factor	Progressive deafness with stapes fixation
Orphanet:3236	\N	\N	"" []	Orphanet:3236	"" []	76584	\N	\N	EFO	0	EFO	Conductive deafness - ptosis - skeletal anomalies	Conductive deafness - ptosis - skeletal anomalies
Orphanet:79373	Orphanet:3236	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3236	"" []	219643	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Conductive deafness - ptosis - skeletal anomalies
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3236	"" []	575113	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Conductive deafness - ptosis - skeletal anomalies
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3236	"" []	575114	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Conductive deafness - ptosis - skeletal anomalies
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3236	"" []	1158022	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Conductive deafness - ptosis - skeletal anomalies
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3236	"" []	1158023	\N	\N	EFO	3	EFO	Rare genetic skin disease	Conductive deafness - ptosis - skeletal anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3236	"" []	2041192	\N	\N	EFO	4	EFO	genetic disorder	Conductive deafness - ptosis - skeletal anomalies
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3236	"" []	2041193	\N	\N	EFO	4	EFO	genetic disorder	Conductive deafness - ptosis - skeletal anomalies
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3236	"" []	2041194	\N	\N	EFO	4	EFO	skin disease	Conductive deafness - ptosis - skeletal anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3236	"" []	3191493	\N	\N	EFO	5	EFO	disease	Conductive deafness - ptosis - skeletal anomalies
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3236	"" []	3191494	\N	\N	EFO	5	EFO	disease	Conductive deafness - ptosis - skeletal anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3236	"" []	4398161	\N	\N	EFO	6	EFO	disposition	Conductive deafness - ptosis - skeletal anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3236	"" []	5415493	\N	\N	EFO	7	EFO	material property	Conductive deafness - ptosis - skeletal anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3236	"" []	6151389	\N	\N	EFO	8	EFO	experimental factor	Conductive deafness - ptosis - skeletal anomalies
Orphanet:3237	\N	\N	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	76585	\N	\N	EFO	0	EFO	Multiple synostoses syndrome	Multiple synostoses syndrome
Orphanet:90642	Orphanet:3237	\N	"" []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	219644	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Multiple synostoses syndrome
Orphanet:93459	Orphanet:3237	\N	"" []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	219645	\N	\N	EFO	1	EFO	Syndrome with synostosis or other joint formation defect	Multiple synostoses syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	575115	\N	\N	EFO	2	EFO	Rare genetic deafness	Multiple synostoses syndrome
Orphanet:404571	Orphanet:93459	\N	"" []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	575116	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Multiple synostoses syndrome
Orphanet:404577	Orphanet:93459	\N	"" []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	575117	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Multiple synostoses syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	1158024	\N	\N	EFO	3	EFO	genetic disorder	Multiple synostoses syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	1158025	\N	\N	EFO	3	EFO	auditory system disease	Multiple synostoses syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	1158026	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Multiple synostoses syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	1158027	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Multiple synostoses syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	5182662	\N	\N	EFO	7	EFO	disease	Multiple synostoses syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	2041196	\N	\N	EFO	4	EFO	sensory system disease	Multiple synostoses syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	2041197	\N	\N	EFO	4	EFO	Rare genetic bone disease	Multiple synostoses syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	2041198	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Multiple synostoses syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	2041199	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Multiple synostoses syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	5817706	\N	\N	EFO	8	EFO	disposition	Multiple synostoses syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	3191496	\N	\N	EFO	5	EFO	nervous system disease	Multiple synostoses syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	3191497	\N	\N	EFO	5	EFO	genetic disorder	Multiple synostoses syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	3191498	\N	\N	EFO	5	EFO	bone disease	Multiple synostoses syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	3191499	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Multiple synostoses syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	4398166	\N	\N	EFO	6	EFO	genetic disorder	Multiple synostoses syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	6410153	\N	\N	EFO	9	EFO	material property	Multiple synostoses syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	4398163	\N	\N	EFO	6	EFO	disease	Multiple synostoses syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	4398165	\N	\N	EFO	6	EFO	skeletal system disease	Multiple synostoses syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	6807986	\N	\N	EFO	10	EFO	experimental factor	Multiple synostoses syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3237	"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." []	5415495	\N	\N	EFO	7	EFO	disease	Multiple synostoses syndrome
Orphanet:3238	\N	\N	"" []	Orphanet:3238	"" []	76586	\N	\N	EFO	0	EFO	Cardiospondylocarpofacial syndrome	Cardiospondylocarpofacial syndrome
Orphanet:90642	Orphanet:3238	\N	"" []	Orphanet:3238	"" []	219646	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Cardiospondylocarpofacial syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3238	"" []	575118	\N	\N	EFO	2	EFO	Rare genetic deafness	Cardiospondylocarpofacial syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3238	"" []	1158028	\N	\N	EFO	3	EFO	genetic disorder	Cardiospondylocarpofacial syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3238	"" []	1158029	\N	\N	EFO	3	EFO	auditory system disease	Cardiospondylocarpofacial syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3238	"" []	2041200	\N	\N	EFO	4	EFO	disease	Cardiospondylocarpofacial syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3238	"" []	2041201	\N	\N	EFO	4	EFO	sensory system disease	Cardiospondylocarpofacial syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3238	"" []	5415497	\N	\N	EFO	7	EFO	disposition	Cardiospondylocarpofacial syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3238	"" []	3191502	\N	\N	EFO	5	EFO	nervous system disease	Cardiospondylocarpofacial syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3238	"" []	5877351	\N	\N	EFO	8	EFO	material property	Cardiospondylocarpofacial syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3238	"" []	4398168	\N	\N	EFO	6	EFO	disease	Cardiospondylocarpofacial syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3238	"" []	6470588	\N	\N	EFO	9	EFO	experimental factor	Cardiospondylocarpofacial syndrome
Orphanet:3239	\N	\N	"" []	Orphanet:3239	"" []	76587	\N	\N	EFO	0	EFO	Deafness - vitiligo - achalasia	Deafness - vitiligo - achalasia
Orphanet:90642	Orphanet:3239	\N	"" []	Orphanet:3239	"" []	219647	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness - vitiligo - achalasia
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3239	"" []	575119	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness - vitiligo - achalasia
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3239	"" []	1158030	\N	\N	EFO	3	EFO	genetic disorder	Deafness - vitiligo - achalasia
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3239	"" []	1158031	\N	\N	EFO	3	EFO	auditory system disease	Deafness - vitiligo - achalasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3239	"" []	2041202	\N	\N	EFO	4	EFO	disease	Deafness - vitiligo - achalasia
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3239	"" []	2041203	\N	\N	EFO	4	EFO	sensory system disease	Deafness - vitiligo - achalasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3239	"" []	5415499	\N	\N	EFO	7	EFO	disposition	Deafness - vitiligo - achalasia
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3239	"" []	3191504	\N	\N	EFO	5	EFO	nervous system disease	Deafness - vitiligo - achalasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3239	"" []	5877352	\N	\N	EFO	8	EFO	material property	Deafness - vitiligo - achalasia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3239	"" []	4398170	\N	\N	EFO	6	EFO	disease	Deafness - vitiligo - achalasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3239	"" []	6470589	\N	\N	EFO	9	EFO	experimental factor	Deafness - vitiligo - achalasia
Orphanet:324	\N	\N	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	76588	\N	\N	EFO	0	EFO	Fabry disease	Fabry disease
Orphanet:139009	Orphanet:324	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	219648	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Fabry disease
Orphanet:183478	Orphanet:324	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	219649	\N	\N	EFO	1	EFO	Genetic skin vascular disorder	Fabry disease
Orphanet:207018	Orphanet:324	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	219650	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Fabry disease
Orphanet:217581	Orphanet:324	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	219651	\N	\N	EFO	1	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Fabry disease
Orphanet:217638	Orphanet:324	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	219652	\N	\N	EFO	1	EFO	Lysosomal disease with restrictive cardiomyopathy	Fabry disease
Orphanet:79225	Orphanet:324	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	219653	\N	\N	EFO	1	EFO	Sphingolipidosis	Fabry disease
Orphanet:89832	Orphanet:324	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	219654	\N	\N	EFO	1	EFO	Syndromic lymphedema	Fabry disease
Orphanet:93593	Orphanet:324	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	219655	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Fabry disease
Orphanet:98644	Orphanet:324	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	219656	\N	\N	EFO	1	EFO	Cataract associated with a metabolic disease	Fabry disease
Orphanet:98711	Orphanet:324	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	219657	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Fabry disease
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	575120	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Fabry disease
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	575121	\N	\N	EFO	2	EFO	Genetic dermis disorder	Fabry disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	575122	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Fabry disease
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	575123	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Fabry disease
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	575124	\N	\N	EFO	2	EFO	Familial restrictive cardiomyopathy	Fabry disease
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	575125	\N	\N	EFO	2	EFO	Lysosomal disease	Fabry disease
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	575126	\N	\N	EFO	2	EFO	Lymphedema	Fabry disease
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	575127	\N	\N	EFO	2	EFO	Rare genetic renal disease	Fabry disease
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	575128	\N	\N	EFO	2	EFO	Systemic disease with cataract	Fabry disease
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	575129	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Fabry disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	1158032	\N	\N	EFO	3	EFO	genetic disorder	Fabry disease
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	1158033	\N	\N	EFO	3	EFO	Rare genetic skin disease	Fabry disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	1158034	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Fabry disease
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	1158035	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Fabry disease
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	1158036	\N	\N	EFO	3	EFO	cardiomyopathy	Fabry disease
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	1158037	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Fabry disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	1158038	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Fabry disease
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	1158039	\N	\N	EFO	3	EFO	Rare genetic skin disease	Fabry disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	1158040	\N	\N	EFO	3	EFO	genetic disorder	Fabry disease
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	1158041	\N	\N	EFO	3	EFO	Syndromic cataract	Fabry disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	1158042	\N	\N	EFO	3	EFO	Rare genetic eye disease	Fabry disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	5817707	\N	\N	EFO	8	EFO	disease	Fabry disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	2041205	\N	\N	EFO	4	EFO	genetic disorder	Fabry disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	2041206	\N	\N	EFO	4	EFO	skin disease	Fabry disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	2041207	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Fabry disease
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	2041208	\N	\N	EFO	4	EFO	genetic disorder	Fabry disease
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	2041209	\N	\N	EFO	4	EFO	heart disease	Fabry disease
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	2041210	\N	\N	EFO	4	EFO	heart disease	Fabry disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	2041211	\N	\N	EFO	4	EFO	genetic disorder	Fabry disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	2041212	\N	\N	EFO	4	EFO	metabolic disease	Fabry disease
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	2041213	\N	\N	EFO	4	EFO	Rare cataract	Fabry disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	5415501	\N	\N	EFO	7	EFO	genetic disorder	Fabry disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	5415502	\N	\N	EFO	7	EFO	eye disease	Fabry disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	6378926	\N	\N	EFO	9	EFO	disposition	Fabry disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	3191507	\N	\N	EFO	5	EFO	disease	Fabry disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	3191508	\N	\N	EFO	5	EFO	genetic disorder	Fabry disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	3191509	\N	\N	EFO	5	EFO	cardiovascular disease	Fabry disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	3191510	\N	\N	EFO	5	EFO	disease	Fabry disease
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	3191511	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Fabry disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	5817708	\N	\N	EFO	8	EFO	disease	Fabry disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	6778743	\N	\N	EFO	10	EFO	material property	Fabry disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	4398173	\N	\N	EFO	6	EFO	disease	Fabry disease
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	4398174	\N	\N	EFO	6	EFO	Rare genetic eye disease	Fabry disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324	"Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." []	7029939	\N	\N	EFO	11	EFO	experimental factor	Fabry disease
Orphanet:3240	\N	\N	"" []	Orphanet:3240	"" []	76589	\N	\N	EFO	0	EFO	Central nervous system calcification - deafness - tubular acidosis - anemia	Central nervous system calcification - deafness - tubular acidosis - anemia
Orphanet:183763	Orphanet:3240	\N	"" []	Orphanet:3240	"" []	219658	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Central nervous system calcification - deafness - tubular acidosis - anemia
Orphanet:314822	Orphanet:3240	\N	"" []	Orphanet:3240	"" []	219659	\N	\N	EFO	1	EFO	Primary renal tubular acidosis	Central nervous system calcification - deafness - tubular acidosis - anemia
Orphanet:90642	Orphanet:3240	\N	"" []	Orphanet:3240	"" []	219660	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Central nervous system calcification - deafness - tubular acidosis - anemia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3240	"" []	575130	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Central nervous system calcification - deafness - tubular acidosis - anemia
Orphanet:183592	Orphanet:314822	\N	"" []	Orphanet:3240	"" []	575131	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Central nervous system calcification - deafness - tubular acidosis - anemia
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3240	"" []	575132	\N	\N	EFO	2	EFO	Rare genetic deafness	Central nervous system calcification - deafness - tubular acidosis - anemia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3240	"" []	1158043	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Central nervous system calcification - deafness - tubular acidosis - anemia
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:3240	"" []	1158044	\N	\N	EFO	3	EFO	Rare genetic renal disease	Central nervous system calcification - deafness - tubular acidosis - anemia
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3240	"" []	1158045	\N	\N	EFO	3	EFO	genetic disorder	Central nervous system calcification - deafness - tubular acidosis - anemia
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3240	"" []	1158046	\N	\N	EFO	3	EFO	auditory system disease	Central nervous system calcification - deafness - tubular acidosis - anemia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3240	"" []	2041216	\N	\N	EFO	4	EFO	genetic disorder	Central nervous system calcification - deafness - tubular acidosis - anemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3240	"" []	2041217	\N	\N	EFO	4	EFO	genetic disorder	Central nervous system calcification - deafness - tubular acidosis - anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3240	"" []	3191513	\N	\N	EFO	5	EFO	disease	Central nervous system calcification - deafness - tubular acidosis - anemia
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3240	"" []	2041219	\N	\N	EFO	4	EFO	sensory system disease	Central nervous system calcification - deafness - tubular acidosis - anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3240	"" []	5415504	\N	\N	EFO	7	EFO	disposition	Central nervous system calcification - deafness - tubular acidosis - anemia
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3240	"" []	3191515	\N	\N	EFO	5	EFO	nervous system disease	Central nervous system calcification - deafness - tubular acidosis - anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3240	"" []	5877354	\N	\N	EFO	8	EFO	material property	Central nervous system calcification - deafness - tubular acidosis - anemia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3240	"" []	4398176	\N	\N	EFO	6	EFO	disease	Central nervous system calcification - deafness - tubular acidosis - anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3240	"" []	6470591	\N	\N	EFO	9	EFO	experimental factor	Central nervous system calcification - deafness - tubular acidosis - anemia
Orphanet:3241	\N	\N	"" []	Orphanet:3241	"" []	76590	\N	\N	EFO	0	EFO	Deafness-craniofacial syndrome	Deafness-craniofacial syndrome
Orphanet:330206	Orphanet:3241	\N	"" []	Orphanet:3241	"" []	219661	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Deafness-craniofacial syndrome
Orphanet:90642	Orphanet:3241	\N	"" []	Orphanet:3241	"" []	219662	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness-craniofacial syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3241	"" []	575133	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Deafness-craniofacial syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3241	"" []	575134	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness-craniofacial syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3241	"" []	1158047	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Deafness-craniofacial syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3241	"" []	1158048	\N	\N	EFO	3	EFO	genetic disorder	Deafness-craniofacial syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3241	"" []	1158049	\N	\N	EFO	3	EFO	auditory system disease	Deafness-craniofacial syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3241	"" []	2041220	\N	\N	EFO	4	EFO	genetic disorder	Deafness-craniofacial syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3241	"" []	3191516	\N	\N	EFO	5	EFO	disease	Deafness-craniofacial syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3241	"" []	2041222	\N	\N	EFO	4	EFO	sensory system disease	Deafness-craniofacial syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3241	"" []	5415506	\N	\N	EFO	7	EFO	disposition	Deafness-craniofacial syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3241	"" []	3191518	\N	\N	EFO	5	EFO	nervous system disease	Deafness-craniofacial syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3241	"" []	5877355	\N	\N	EFO	8	EFO	material property	Deafness-craniofacial syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3241	"" []	4398178	\N	\N	EFO	6	EFO	disease	Deafness-craniofacial syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3241	"" []	6470592	\N	\N	EFO	9	EFO	experimental factor	Deafness-craniofacial syndrome
Orphanet:3242	\N	\N	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	76591	\N	\N	EFO	0	EFO	Renpenning syndrome	Renpenning syndrome
Orphanet:102283	Orphanet:3242	\N	"" []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	219663	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Renpenning syndrome
Orphanet:117573	Orphanet:3242	\N	"" []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	219664	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Renpenning syndrome
Orphanet:98464	Orphanet:3242	\N	"" []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	219665	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Renpenning syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	575135	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Renpenning syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	575136	\N	\N	EFO	2	EFO	Anorectal malformation	Renpenning syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	575137	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Renpenning syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	1158050	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renpenning syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	1158051	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Renpenning syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	1158052	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Renpenning syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	3191520	\N	\N	EFO	5	EFO	genetic disorder	Renpenning syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	2041224	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Renpenning syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	2041225	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Renpenning syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	4133892	\N	\N	EFO	6	EFO	disease	Renpenning syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	3191521	\N	\N	EFO	5	EFO	genetic disorder	Renpenning syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	5182666	\N	\N	EFO	7	EFO	disposition	Renpenning syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	5998041	\N	\N	EFO	8	EFO	material property	Renpenning syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3242	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	6551335	\N	\N	EFO	9	EFO	experimental factor	Renpenning syndrome
Orphanet:324262	\N	\N	"" []	Orphanet:324262	"" []	76592	\N	\N	EFO	0	EFO	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:363429	Orphanet:324262	\N	"" []	Orphanet:324262	"" []	219666	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:79166	Orphanet:363429	\N	"" []	Orphanet:324262	"" []	575138	\N	\N	EFO	2	EFO	Disorder of amino acid absorption and transport	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:98096	Orphanet:363429	\N	"" []	Orphanet:324262	"" []	575139	\N	\N	EFO	2	EFO	Autosomal recessive metabolic cerebellar ataxia	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:324262	"" []	1158053	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:1172	Orphanet:98096	\N	"" []	Orphanet:324262	"" []	1158054	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:324262	"" []	2041226	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:324262	"" []	2041227	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:324262	"" []	2041228	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:324262	"" []	2041229	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324262	"" []	3191522	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:324262	"" []	3191523	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:324262	"" []	3191524	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:324262	"" []	3191525	\N	\N	EFO	5	EFO	Ataxia with dementia	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:324262	"" []	3191526	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324262	"" []	6807988	\N	\N	EFO	10	EFO	disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324262	"" []	4398181	\N	\N	EFO	6	EFO	disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324262	"" []	6633631	\N	\N	EFO	9	EFO	genetic disorder	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:324262	"" []	4398183	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:324262	"" []	4398184	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324262	"" []	7029940	\N	\N	EFO	11	EFO	disposition	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:324262	"" []	5415510	\N	\N	EFO	7	EFO	Genetic dementia	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:324262	"" []	5415511	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:324262	"" []	5415512	\N	\N	EFO	7	EFO	Rare genetic eye disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324262	"" []	7181799	\N	\N	EFO	12	EFO	material property	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:324262	"" []	6151392	\N	\N	EFO	8	EFO	brain disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:324262	"" []	6151393	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:324262	"" []	6151394	\N	\N	EFO	8	EFO	neurodegenerative disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:324262	"" []	6151395	\N	\N	EFO	8	EFO	brain disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:324262	"" []	6151396	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324262	"" []	6151397	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:324262	"" []	6151398	\N	\N	EFO	8	EFO	eye disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324262	"" []	7279097	\N	\N	EFO	13	EFO	experimental factor	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:324262	"" []	6633630	\N	\N	EFO	9	EFO	nervous system disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:324262	"" []	6633632	\N	\N	EFO	9	EFO	nervous system disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324262	"" []	6633634	\N	\N	EFO	9	EFO	disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324262	"" []	6926078	\N	\N	EFO	10	EFO	disease	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Orphanet:324290	\N	\N	"" []	Orphanet:324290	"" []	76593	\N	\N	EFO	0	EFO	Early-onset Lafora body disease	Early-onset Lafora body disease
Orphanet:98261	Orphanet:324290	\N	"" []	Orphanet:324290	"" []	219667	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Early-onset Lafora body disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:324290	"" []	575140	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Early-onset Lafora body disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:324290	"" []	575141	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Early-onset Lafora body disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:324290	"" []	1158055	\N	\N	EFO	3	EFO	Epilepsy syndrome	Early-onset Lafora body disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:324290	"" []	1158056	\N	\N	EFO	3	EFO	Epilepsy syndrome	Early-onset Lafora body disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:324290	"" []	2041230	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Early-onset Lafora body disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:324290	"" []	3191527	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Early-onset Lafora body disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324290	"" []	4398185	\N	\N	EFO	6	EFO	genetic disorder	Early-onset Lafora body disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324290	"" []	5415513	\N	\N	EFO	7	EFO	disease	Early-onset Lafora body disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324290	"" []	6151399	\N	\N	EFO	8	EFO	disposition	Early-onset Lafora body disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324290	"" []	6633635	\N	\N	EFO	9	EFO	material property	Early-onset Lafora body disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324290	"" []	6926079	\N	\N	EFO	10	EFO	experimental factor	Early-onset Lafora body disease
Orphanet:324294	\N	\N	"" []	Orphanet:324294	"" []	76594	\N	\N	EFO	0	EFO	T-cell immunodeficiency with epidermodysplasia verruciformis	T-cell immunodeficiency with epidermodysplasia verruciformis
Orphanet:331193	Orphanet:324294	\N	"" []	Orphanet:324294	"" []	219668	\N	\N	EFO	1	EFO	Other immunodeficiency syndromes due to defects in innate immunity	T-cell immunodeficiency with epidermodysplasia verruciformis
Orphanet:101988	Orphanet:331193	\N	"" []	Orphanet:324294	"" []	575142	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	T-cell immunodeficiency with epidermodysplasia verruciformis
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:324294	"" []	1158057	\N	\N	EFO	3	EFO	Primary immunodeficiency	T-cell immunodeficiency with epidermodysplasia verruciformis
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:324294	"" []	2041231	\N	\N	EFO	4	EFO	Rare genetic immune disease	T-cell immunodeficiency with epidermodysplasia verruciformis
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324294	"" []	3191528	\N	\N	EFO	5	EFO	genetic disorder	T-cell immunodeficiency with epidermodysplasia verruciformis
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:324294	"" []	3191529	\N	\N	EFO	5	EFO	immune system disease	T-cell immunodeficiency with epidermodysplasia verruciformis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324294	"" []	4398186	\N	\N	EFO	6	EFO	disease	T-cell immunodeficiency with epidermodysplasia verruciformis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324294	"" []	4398187	\N	\N	EFO	6	EFO	disease	T-cell immunodeficiency with epidermodysplasia verruciformis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324294	"" []	5415514	\N	\N	EFO	7	EFO	disposition	T-cell immunodeficiency with epidermodysplasia verruciformis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324294	"" []	6151400	\N	\N	EFO	8	EFO	material property	T-cell immunodeficiency with epidermodysplasia verruciformis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324294	"" []	6633636	\N	\N	EFO	9	EFO	experimental factor	T-cell immunodeficiency with epidermodysplasia verruciformis
Orphanet:324307	\N	\N	"" []	Orphanet:324307	"" []	76595	\N	\N	EFO	0	EFO	Severe lateral tibial bowing with short stature	Severe lateral tibial bowing with short stature
Orphanet:93439	Orphanet:324307	\N	"" []	Orphanet:324307	"" []	219669	\N	\N	EFO	1	EFO	Bent bone dysplasia	Severe lateral tibial bowing with short stature
Orphanet:364526	Orphanet:93439	\N	"" []	Orphanet:324307	"" []	575143	\N	\N	EFO	2	EFO	Primary bone dysplasia	Severe lateral tibial bowing with short stature
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:324307	"" []	1158058	\N	\N	EFO	3	EFO	Rare genetic bone disease	Severe lateral tibial bowing with short stature
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:324307	"" []	1158059	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Severe lateral tibial bowing with short stature
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324307	"" []	2041232	\N	\N	EFO	4	EFO	genetic disorder	Severe lateral tibial bowing with short stature
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:324307	"" []	2041233	\N	\N	EFO	4	EFO	bone disease	Severe lateral tibial bowing with short stature
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:324307	"" []	2041234	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Severe lateral tibial bowing with short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324307	"" []	4398190	\N	\N	EFO	6	EFO	disease	Severe lateral tibial bowing with short stature
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:324307	"" []	3191531	\N	\N	EFO	5	EFO	skeletal system disease	Severe lateral tibial bowing with short stature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324307	"" []	3191532	\N	\N	EFO	5	EFO	genetic disorder	Severe lateral tibial bowing with short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324307	"" []	5182667	\N	\N	EFO	7	EFO	disposition	Severe lateral tibial bowing with short stature
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324307	"" []	4398189	\N	\N	EFO	6	EFO	disease	Severe lateral tibial bowing with short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324307	"" []	5998043	\N	\N	EFO	8	EFO	material property	Severe lateral tibial bowing with short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324307	"" []	6551337	\N	\N	EFO	9	EFO	experimental factor	Severe lateral tibial bowing with short stature
Orphanet:324313	\N	\N	"" []	Orphanet:324313	"" []	76596	\N	\N	EFO	0	EFO	9p13 microdeletion syndrome	9p13 microdeletion syndrome
Orphanet:183763	Orphanet:324313	\N	"" []	Orphanet:324313	"" []	219670	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	9p13 microdeletion syndrome
Orphanet:261929	Orphanet:324313	\N	"" []	Orphanet:324313	"" []	219671	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 9	9p13 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:324313	"" []	575144	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	9p13 microdeletion syndrome
Orphanet:261806	Orphanet:261929	\N	"" []	Orphanet:324313	"" []	575145	\N	\N	EFO	2	EFO	Partial deletion of chromosome 9	9p13 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:324313	"" []	1158060	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	9p13 microdeletion syndrome
Orphanet:98142	Orphanet:261806	\N	"" []	Orphanet:324313	"" []	1158061	\N	\N	EFO	3	EFO	Partial autosomal monosomy	9p13 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324313	"" []	2041235	\N	\N	EFO	4	EFO	genetic disorder	9p13 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:324313	"" []	2041236	\N	\N	EFO	4	EFO	Autosomal monosomy	9p13 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324313	"" []	6151403	\N	\N	EFO	8	EFO	disease	9p13 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:324313	"" []	3191534	\N	\N	EFO	5	EFO	Autosomal anomaly	9p13 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324313	"" []	6410154	\N	\N	EFO	9	EFO	disposition	9p13 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:324313	"" []	4398192	\N	\N	EFO	6	EFO	Chromosomal anomaly	9p13 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324313	"" []	6807989	\N	\N	EFO	10	EFO	material property	9p13 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324313	"" []	5415517	\N	\N	EFO	7	EFO	genetic disorder	9p13 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324313	"" []	7048710	\N	\N	EFO	11	EFO	experimental factor	9p13 microdeletion syndrome
Orphanet:324321	\N	\N	"" []	Orphanet:324321	"" []	76597	\N	\N	EFO	0	EFO	Sinoatrial node dysfunction and deafness	Sinoatrial node dysfunction and deafness
Orphanet:101934	Orphanet:324321	\N	"" []	Orphanet:324321	"" []	219672	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Sinoatrial node dysfunction and deafness
Orphanet:90642	Orphanet:324321	\N	"" []	Orphanet:324321	"" []	219673	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Sinoatrial node dysfunction and deafness
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:324321	"" []	575146	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Sinoatrial node dysfunction and deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:324321	"" []	575147	\N	\N	EFO	2	EFO	Rare genetic deafness	Sinoatrial node dysfunction and deafness
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324321	"" []	1158062	\N	\N	EFO	3	EFO	genetic disorder	Sinoatrial node dysfunction and deafness
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:324321	"" []	1158063	\N	\N	EFO	3	EFO	heart disease	Sinoatrial node dysfunction and deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324321	"" []	1158064	\N	\N	EFO	3	EFO	genetic disorder	Sinoatrial node dysfunction and deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:324321	"" []	1158065	\N	\N	EFO	3	EFO	auditory system disease	Sinoatrial node dysfunction and deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324321	"" []	2041237	\N	\N	EFO	4	EFO	disease	Sinoatrial node dysfunction and deafness
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:324321	"" []	2041238	\N	\N	EFO	4	EFO	cardiovascular disease	Sinoatrial node dysfunction and deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:324321	"" []	2041239	\N	\N	EFO	4	EFO	sensory system disease	Sinoatrial node dysfunction and deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324321	"" []	5415519	\N	\N	EFO	7	EFO	disposition	Sinoatrial node dysfunction and deafness
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324321	"" []	3191536	\N	\N	EFO	5	EFO	disease	Sinoatrial node dysfunction and deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:324321	"" []	3191537	\N	\N	EFO	5	EFO	nervous system disease	Sinoatrial node dysfunction and deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324321	"" []	5877356	\N	\N	EFO	8	EFO	material property	Sinoatrial node dysfunction and deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324321	"" []	4398195	\N	\N	EFO	6	EFO	disease	Sinoatrial node dysfunction and deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324321	"" []	6470593	\N	\N	EFO	9	EFO	experimental factor	Sinoatrial node dysfunction and deafness
Orphanet:324353	\N	\N	"" []	Orphanet:324353	"" []	76598	\N	\N	EFO	0	EFO	Congenital achiasma	Congenital achiasma
Orphanet:98518	Orphanet:324353	\N	"" []	Orphanet:324353	"" []	219674	\N	\N	EFO	1	EFO	Cranial nerve and nuclear aplasia	Congenital achiasma
Orphanet:269550	Orphanet:98518	\N	"" []	Orphanet:324353	"" []	575148	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Congenital achiasma
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:324353	"" []	1158066	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Congenital achiasma
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:324353	"" []	2041240	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital achiasma
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:324353	"" []	2041241	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital achiasma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324353	"" []	3191538	\N	\N	EFO	5	EFO	genetic disorder	Congenital achiasma
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324353	"" []	3191539	\N	\N	EFO	5	EFO	genetic disorder	Congenital achiasma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324353	"" []	4398196	\N	\N	EFO	6	EFO	disease	Congenital achiasma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324353	"" []	5415520	\N	\N	EFO	7	EFO	disposition	Congenital achiasma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324353	"" []	6151404	\N	\N	EFO	8	EFO	material property	Congenital achiasma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324353	"" []	6633637	\N	\N	EFO	9	EFO	experimental factor	Congenital achiasma
Orphanet:324364	\N	\N	"" []	Orphanet:324364	"" []	76599	\N	\N	EFO	0	EFO	Mixed sclerosing bone dystrophy with extra-skeletal manifestations	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Orphanet:93444	Orphanet:324364	\N	"" []	Orphanet:324364	"" []	219675	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:324364	"" []	575149	\N	\N	EFO	2	EFO	Primary bone dysplasia	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:324364	"" []	1158067	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:324364	"" []	1158068	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324364	"" []	2041242	\N	\N	EFO	4	EFO	genetic disorder	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:324364	"" []	2041243	\N	\N	EFO	4	EFO	bone disease	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:324364	"" []	2041244	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324364	"" []	4398199	\N	\N	EFO	6	EFO	disease	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:324364	"" []	3191541	\N	\N	EFO	5	EFO	skeletal system disease	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324364	"" []	3191542	\N	\N	EFO	5	EFO	genetic disorder	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324364	"" []	5182669	\N	\N	EFO	7	EFO	disposition	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324364	"" []	4398198	\N	\N	EFO	6	EFO	disease	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324364	"" []	5998045	\N	\N	EFO	8	EFO	material property	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324364	"" []	6551338	\N	\N	EFO	9	EFO	experimental factor	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Orphanet:324381	\N	\N	"" []	Orphanet:324381	"" []	76600	\N	\N	EFO	0	EFO	Hereditary inclusion body myopathy type 4	Hereditary inclusion body myopathy type 4
Orphanet:206662	Orphanet:324381	\N	"" []	Orphanet:324381	"" []	219676	\N	\N	EFO	1	EFO	Inclusion myopathy	Hereditary inclusion body myopathy type 4
Orphanet:206656	Orphanet:206662	\N	"" []	Orphanet:324381	"" []	575150	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Hereditary inclusion body myopathy type 4
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:324381	"" []	1158069	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Hereditary inclusion body myopathy type 4
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:324381	"" []	2041245	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Hereditary inclusion body myopathy type 4
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:324381	"" []	3191543	\N	\N	EFO	5	EFO	muscular disease	Hereditary inclusion body myopathy type 4
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:324381	"" []	3191544	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hereditary inclusion body myopathy type 4
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:324381	"" []	4398200	\N	\N	EFO	6	EFO	skeletal system disease	Hereditary inclusion body myopathy type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324381	"" []	4398201	\N	\N	EFO	6	EFO	genetic disorder	Hereditary inclusion body myopathy type 4
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324381	"" []	5415522	\N	\N	EFO	7	EFO	disease	Hereditary inclusion body myopathy type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324381	"" []	5415523	\N	\N	EFO	7	EFO	disease	Hereditary inclusion body myopathy type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324381	"" []	6151406	\N	\N	EFO	8	EFO	disposition	Hereditary inclusion body myopathy type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324381	"" []	6633638	\N	\N	EFO	9	EFO	material property	Hereditary inclusion body myopathy type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324381	"" []	6926080	\N	\N	EFO	10	EFO	experimental factor	Hereditary inclusion body myopathy type 4
Orphanet:324410	\N	\N	"" []	Orphanet:324410	"" []	76601	\N	\N	EFO	0	EFO	X-linked intellectual disability - cardiomegaly - congestive heart failure	X-linked intellectual disability - cardiomegaly - congestive heart failure
Orphanet:101934	Orphanet:324410	\N	"" []	Orphanet:324410	"" []	219677	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	X-linked intellectual disability - cardiomegaly - congestive heart failure
Orphanet:98464	Orphanet:324410	\N	"" []	Orphanet:324410	"" []	219678	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - cardiomegaly - congestive heart failure
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:324410	"" []	575151	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	X-linked intellectual disability - cardiomegaly - congestive heart failure
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:324410	"" []	575152	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - cardiomegaly - congestive heart failure
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324410	"" []	1158070	\N	\N	EFO	3	EFO	genetic disorder	X-linked intellectual disability - cardiomegaly - congestive heart failure
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:324410	"" []	1158071	\N	\N	EFO	3	EFO	heart disease	X-linked intellectual disability - cardiomegaly - congestive heart failure
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:324410	"" []	1158072	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - cardiomegaly - congestive heart failure
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324410	"" []	4398204	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - cardiomegaly - congestive heart failure
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:324410	"" []	2041247	\N	\N	EFO	4	EFO	cardiovascular disease	X-linked intellectual disability - cardiomegaly - congestive heart failure
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:324410	"" []	2041248	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - cardiomegaly - congestive heart failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324410	"" []	5059997	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - cardiomegaly - congestive heart failure
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324410	"" []	3191546	\N	\N	EFO	5	EFO	disease	X-linked intellectual disability - cardiomegaly - congestive heart failure
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324410	"" []	3191547	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - cardiomegaly - congestive heart failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324410	"" []	5877357	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - cardiomegaly - congestive heart failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324410	"" []	6470594	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - cardiomegaly - congestive heart failure
Orphanet:324416	\N	\N	"" []	Orphanet:324416	"" []	76602	\N	\N	EFO	0	EFO	Muscular hypertrophy - hepatomegaly - polyhydramnios	Muscular hypertrophy - hepatomegaly - polyhydramnios
Orphanet:102283	Orphanet:324416	\N	"" []	Orphanet:324416	"" []	219679	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Muscular hypertrophy - hepatomegaly - polyhydramnios
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:324416	"" []	575153	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Muscular hypertrophy - hepatomegaly - polyhydramnios
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:324416	"" []	1158073	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Muscular hypertrophy - hepatomegaly - polyhydramnios
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324416	"" []	2041249	\N	\N	EFO	4	EFO	genetic disorder	Muscular hypertrophy - hepatomegaly - polyhydramnios
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324416	"" []	3191548	\N	\N	EFO	5	EFO	disease	Muscular hypertrophy - hepatomegaly - polyhydramnios
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324416	"" []	4398205	\N	\N	EFO	6	EFO	disposition	Muscular hypertrophy - hepatomegaly - polyhydramnios
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324416	"" []	5415525	\N	\N	EFO	7	EFO	material property	Muscular hypertrophy - hepatomegaly - polyhydramnios
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324416	"" []	6151407	\N	\N	EFO	8	EFO	experimental factor	Muscular hypertrophy - hepatomegaly - polyhydramnios
Orphanet:324422	\N	\N	"" []	Orphanet:324422	"" []	76603	\N	\N	EFO	0	EFO	ALG13-CDG	ALG13-CDG
Orphanet:309347	Orphanet:324422	\N	"" []	Orphanet:324422	"" []	219680	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	ALG13-CDG
Orphanet:371071	Orphanet:324422	\N	"" []	Orphanet:324422	"" []	219681	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	ALG13-CDG
Orphanet:371157	Orphanet:324422	\N	"" []	Orphanet:324422	"" []	219682	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	ALG13-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:324422	"" []	575154	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	ALG13-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:324422	"" []	575155	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ALG13-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:324422	"" []	575156	\N	\N	EFO	2	EFO	Rare metabolic liver disease	ALG13-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:324422	"" []	1158074	\N	\N	EFO	3	EFO	Inborn errors of metabolism	ALG13-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:324422	"" []	1158075	\N	\N	EFO	3	EFO	Neurometabolic disease	ALG13-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:324422	"" []	1158076	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	ALG13-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324422	"" []	2041250	\N	\N	EFO	4	EFO	genetic disorder	ALG13-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:324422	"" []	2041251	\N	\N	EFO	4	EFO	metabolic disease	ALG13-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:324422	"" []	2041252	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	ALG13-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:324422	"" []	2041253	\N	\N	EFO	4	EFO	digestive system disease	ALG13-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324422	"" []	2041254	\N	\N	EFO	4	EFO	genetic disorder	ALG13-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324422	"" []	4398207	\N	\N	EFO	6	EFO	disease	ALG13-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324422	"" []	3191550	\N	\N	EFO	5	EFO	disease	ALG13-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324422	"" []	3191551	\N	\N	EFO	5	EFO	genetic disorder	ALG13-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324422	"" []	3191552	\N	\N	EFO	5	EFO	disease	ALG13-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324422	"" []	5182671	\N	\N	EFO	7	EFO	disposition	ALG13-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324422	"" []	5998047	\N	\N	EFO	8	EFO	material property	ALG13-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324422	"" []	6551339	\N	\N	EFO	9	EFO	experimental factor	ALG13-CDG
Orphanet:324442	\N	\N	"" []	Orphanet:324442	"" []	76604	\N	\N	EFO	0	EFO	Autosomal recessive axonal neuropathy with neuromyotonia	Autosomal recessive axonal neuropathy with neuromyotonia
Orphanet:91024	Orphanet:324442	\N	"" []	Orphanet:324442	"" []	219683	\N	\N	EFO	1	EFO	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2	Autosomal recessive axonal neuropathy with neuromyotonia
Orphanet:140450	Orphanet:91024	\N	"" []	Orphanet:324442	"" []	575157	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal recessive axonal neuropathy with neuromyotonia
Orphanet:166	Orphanet:91024	\N	"" []	Orphanet:324442	"" []	575158	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal recessive axonal neuropathy with neuromyotonia
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:324442	"" []	1158077	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal recessive axonal neuropathy with neuromyotonia
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:324442	"" []	1158078	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal recessive axonal neuropathy with neuromyotonia
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:324442	"" []	1158079	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal recessive axonal neuropathy with neuromyotonia
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:324442	"" []	2041255	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal recessive axonal neuropathy with neuromyotonia
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:324442	"" []	2041256	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive axonal neuropathy with neuromyotonia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:324442	"" []	3191553	\N	\N	EFO	5	EFO	nervous system disease	Autosomal recessive axonal neuropathy with neuromyotonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324442	"" []	3191554	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive axonal neuropathy with neuromyotonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324442	"" []	4398208	\N	\N	EFO	6	EFO	disease	Autosomal recessive axonal neuropathy with neuromyotonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324442	"" []	4398209	\N	\N	EFO	6	EFO	disease	Autosomal recessive axonal neuropathy with neuromyotonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324442	"" []	5415527	\N	\N	EFO	7	EFO	disposition	Autosomal recessive axonal neuropathy with neuromyotonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324442	"" []	6151409	\N	\N	EFO	8	EFO	material property	Autosomal recessive axonal neuropathy with neuromyotonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324442	"" []	6633639	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive axonal neuropathy with neuromyotonia
Orphanet:324525	\N	\N	"" []	Orphanet:324525	"" []	76605	\N	\N	EFO	0	EFO	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:217587	Orphanet:324525	\N	"" []	Orphanet:324525	"" []	219684	\N	\N	EFO	1	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:254776	Orphanet:324525	\N	"" []	Orphanet:324525	"" []	219685	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:314822	Orphanet:324525	\N	"" []	Orphanet:324525	"" []	219686	\N	\N	EFO	1	EFO	Primary renal tubular acidosis	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:324525	"" []	575159	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:324525	"" []	575160	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:183592	Orphanet:314822	\N	"" []	Orphanet:324525	"" []	575161	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:324525	"" []	1158080	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:324525	"" []	1158081	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:324525	"" []	1158082	\N	\N	EFO	3	EFO	Rare genetic renal disease	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324525	"" []	2041257	\N	\N	EFO	4	EFO	genetic disorder	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:324525	"" []	2041258	\N	\N	EFO	4	EFO	heart disease	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:324525	"" []	2041259	\N	\N	EFO	4	EFO	Mitochondrial disease	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324525	"" []	2041260	\N	\N	EFO	4	EFO	genetic disorder	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324525	"" []	6151411	\N	\N	EFO	8	EFO	disease	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:324525	"" []	3191556	\N	\N	EFO	5	EFO	cardiovascular disease	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:324525	"" []	3191557	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:324525	"" []	3191558	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324525	"" []	6410155	\N	\N	EFO	9	EFO	disposition	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324525	"" []	4398211	\N	\N	EFO	6	EFO	disease	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:324525	"" []	4398212	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:324525	"" []	4398213	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324525	"" []	6807990	\N	\N	EFO	10	EFO	material property	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324525	"" []	5415530	\N	\N	EFO	7	EFO	genetic disorder	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324525	"" []	5415531	\N	\N	EFO	7	EFO	genetic disorder	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:324525	"" []	5415532	\N	\N	EFO	7	EFO	metabolic disease	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324525	"" []	7048711	\N	\N	EFO	11	EFO	experimental factor	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324525	"" []	6151412	\N	\N	EFO	8	EFO	disease	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Orphanet:324535	\N	\N	"" []	Orphanet:324535	"" []	76606	\N	\N	EFO	0	EFO	Combined oxidative phosphorylation defect type 11	Combined oxidative phosphorylation defect type 11
Orphanet:35696	Orphanet:324535	\N	"" []	Orphanet:324535	"" []	219687	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Combined oxidative phosphorylation defect type 11
Orphanet:68385	Orphanet:324535	\N	"" []	Orphanet:324535	"" []	219688	\N	\N	EFO	1	EFO	Neurometabolic disease	Combined oxidative phosphorylation defect type 11
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:324535	"" []	575162	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Combined oxidative phosphorylation defect type 11
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:324535	"" []	575163	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Combined oxidative phosphorylation defect type 11
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:324535	"" []	1158083	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Combined oxidative phosphorylation defect type 11
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324535	"" []	1158084	\N	\N	EFO	3	EFO	genetic disorder	Combined oxidative phosphorylation defect type 11
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:324535	"" []	2041261	\N	\N	EFO	4	EFO	Mitochondrial disease	Combined oxidative phosphorylation defect type 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324535	"" []	6151413	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 11
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:324535	"" []	3191559	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Combined oxidative phosphorylation defect type 11
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:324535	"" []	3191560	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Combined oxidative phosphorylation defect type 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324535	"" []	6378927	\N	\N	EFO	9	EFO	disposition	Combined oxidative phosphorylation defect type 11
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:324535	"" []	4398214	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Combined oxidative phosphorylation defect type 11
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:324535	"" []	4398215	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Combined oxidative phosphorylation defect type 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324535	"" []	6778744	\N	\N	EFO	10	EFO	material property	Combined oxidative phosphorylation defect type 11
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324535	"" []	5415533	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 11
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324535	"" []	5415534	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 11
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:324535	"" []	5415535	\N	\N	EFO	7	EFO	metabolic disease	Combined oxidative phosphorylation defect type 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324535	"" []	7029941	\N	\N	EFO	11	EFO	experimental factor	Combined oxidative phosphorylation defect type 11
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324535	"" []	6151414	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 11
Orphanet:324540	\N	\N	"" []	Orphanet:324540	"" []	76607	\N	\N	EFO	0	EFO	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
Orphanet:102283	Orphanet:324540	\N	"" []	Orphanet:324540	"" []	219689	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
Orphanet:183763	Orphanet:324540	\N	"" []	Orphanet:324540	"" []	219690	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:324540	"" []	575164	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:324540	"" []	575165	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:324540	"" []	1158085	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:324540	"" []	1158086	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324540	"" []	2041263	\N	\N	EFO	4	EFO	genetic disorder	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324540	"" []	2041264	\N	\N	EFO	4	EFO	genetic disorder	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324540	"" []	3191562	\N	\N	EFO	5	EFO	disease	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324540	"" []	4398217	\N	\N	EFO	6	EFO	disposition	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324540	"" []	5415537	\N	\N	EFO	7	EFO	material property	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324540	"" []	6151415	\N	\N	EFO	8	EFO	experimental factor	Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
Orphanet:324561	\N	\N	"" []	Orphanet:324561	"" []	76608	\N	\N	EFO	0	EFO	Hypopigmentation-punctate palmoplantar keratoderma syndrome	Hypopigmentation-punctate palmoplantar keratoderma syndrome
Orphanet:308031	Orphanet:324561	\N	"" []	Orphanet:324561	"" []	219691	\N	\N	EFO	1	EFO	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature	Hypopigmentation-punctate palmoplantar keratoderma syndrome
Orphanet:308023	Orphanet:308031	\N	"" []	Orphanet:324561	"" []	575166	\N	\N	EFO	2	EFO	Disease with punctate palmoplantar keratoderma as a major feature	Hypopigmentation-punctate palmoplantar keratoderma syndrome
Orphanet:307967	Orphanet:308023	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:324561	"" []	1158087	\N	\N	EFO	3	EFO	Punctate palmoplantar keratoderma	Hypopigmentation-punctate palmoplantar keratoderma syndrome
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:324561	"" []	2041265	\N	\N	EFO	4	EFO	palmoplantar keratosis	Hypopigmentation-punctate palmoplantar keratoderma syndrome
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:324561	"" []	2041266	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Hypopigmentation-punctate palmoplantar keratoderma syndrome
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:324561	"" []	3191563	\N	\N	EFO	5	EFO	keratosis	Hypopigmentation-punctate palmoplantar keratoderma syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:324561	"" []	3191564	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Hypopigmentation-punctate palmoplantar keratoderma syndrome
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:324561	"" []	4398218	\N	\N	EFO	6	EFO	skin disease	Hypopigmentation-punctate palmoplantar keratoderma syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:324561	"" []	4398219	\N	\N	EFO	6	EFO	Rare genetic skin disease	Hypopigmentation-punctate palmoplantar keratoderma syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324561	"" []	6151418	\N	\N	EFO	8	EFO	disease	Hypopigmentation-punctate palmoplantar keratoderma syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324561	"" []	5415539	\N	\N	EFO	7	EFO	genetic disorder	Hypopigmentation-punctate palmoplantar keratoderma syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:324561	"" []	5415540	\N	\N	EFO	7	EFO	skin disease	Hypopigmentation-punctate palmoplantar keratoderma syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324561	"" []	6551341	\N	\N	EFO	9	EFO	disposition	Hypopigmentation-punctate palmoplantar keratoderma syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324561	"" []	6151417	\N	\N	EFO	8	EFO	disease	Hypopigmentation-punctate palmoplantar keratoderma syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324561	"" []	6889402	\N	\N	EFO	10	EFO	material property	Hypopigmentation-punctate palmoplantar keratoderma syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324561	"" []	7086046	\N	\N	EFO	11	EFO	experimental factor	Hypopigmentation-punctate palmoplantar keratoderma syndrome
Orphanet:324569	\N	\N	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	76609	\N	\N	EFO	0	EFO	Pontocerebellar hypoplasia type 8	Pontocerebellar hypoplasia type 8
Orphanet:98523	Orphanet:324569	\N	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	219692	\N	\N	EFO	1	EFO	Non-syndromic pontocerebellar hypoplasia	Pontocerebellar hypoplasia type 8
Orphanet:269557	Orphanet:98523	\N	"" []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	575167	\N	\N	EFO	2	EFO	Genetic posterior fossa malformation	Pontocerebellar hypoplasia type 8
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	1158088	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Pontocerebellar hypoplasia type 8
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	2041267	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Pontocerebellar hypoplasia type 8
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	3191565	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pontocerebellar hypoplasia type 8
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	3191566	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pontocerebellar hypoplasia type 8
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	4398220	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 8
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	4398221	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	5415541	\N	\N	EFO	7	EFO	disease	Pontocerebellar hypoplasia type 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	6151419	\N	\N	EFO	8	EFO	disposition	Pontocerebellar hypoplasia type 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	6633641	\N	\N	EFO	9	EFO	material property	Pontocerebellar hypoplasia type 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324569	" gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." []	6926082	\N	\N	EFO	10	EFO	experimental factor	Pontocerebellar hypoplasia type 8
Orphanet:324575	\N	\N	"#945;)'." []	Orphanet:324575	"#945;)'." []	76610	\N	\N	EFO	0	EFO	Hyperinsulinism due to HNF1A deficiency	Hyperinsulinism due to HNF1A deficiency
Orphanet:165985	Orphanet:324575	\N	"" []	Orphanet:324575	"#945;)'." []	219693	\N	\N	EFO	1	EFO	Diazoxide-sensitive diffuse hyperinsulinism	Hyperinsulinism due to HNF1A deficiency
Orphanet:657	Orphanet:165985	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:324575	"#945;)'." []	575168	\N	\N	EFO	2	EFO	Congenital isolated hyperinsulinism	Hyperinsulinism due to HNF1A deficiency
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:324575	"#945;)'." []	1158089	\N	\N	EFO	3	EFO	Familial hyperinsulinism	Hyperinsulinism due to HNF1A deficiency
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:324575	"#945;)'." []	1158090	\N	\N	EFO	3	EFO	Overgrowth syndrome	Hyperinsulinism due to HNF1A deficiency
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:324575	"#945;)'." []	2041268	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hyperinsulinism due to HNF1A deficiency
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:324575	"#945;)'." []	2041269	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Hyperinsulinism due to HNF1A deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324575	"#945;)'." []	3191567	\N	\N	EFO	5	EFO	genetic disorder	Hyperinsulinism due to HNF1A deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:324575	"#945;)'." []	3191568	\N	\N	EFO	5	EFO	endocrine system disease	Hyperinsulinism due to HNF1A deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:324575	"#945;)'." []	3191569	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hyperinsulinism due to HNF1A deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324575	"#945;)'." []	5415543	\N	\N	EFO	7	EFO	disease	Hyperinsulinism due to HNF1A deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324575	"#945;)'." []	4398223	\N	\N	EFO	6	EFO	disease	Hyperinsulinism due to HNF1A deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324575	"#945;)'." []	4398224	\N	\N	EFO	6	EFO	genetic disorder	Hyperinsulinism due to HNF1A deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324575	"#945;)'." []	5998049	\N	\N	EFO	8	EFO	disposition	Hyperinsulinism due to HNF1A deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324575	"#945;)'." []	6551342	\N	\N	EFO	9	EFO	material property	Hyperinsulinism due to HNF1A deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324575	"#945;)'." []	6889403	\N	\N	EFO	10	EFO	experimental factor	Hyperinsulinism due to HNF1A deficiency
Orphanet:324581	\N	\N	"" []	Orphanet:324581	"" []	76611	\N	\N	EFO	0	EFO	Benign Samaritan congenital myopathy	Benign Samaritan congenital myopathy
Orphanet:97245	Orphanet:324581	\N	"" []	Orphanet:324581	"" []	219694	\N	\N	EFO	1	EFO	Congenital myopathy	Benign Samaritan congenital myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:324581	"" []	575169	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Benign Samaritan congenital myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:324581	"" []	1158091	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Benign Samaritan congenital myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:324581	"" []	2041270	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Benign Samaritan congenital myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:324581	"" []	3191570	\N	\N	EFO	5	EFO	muscular disease	Benign Samaritan congenital myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:324581	"" []	3191571	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Benign Samaritan congenital myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:324581	"" []	4398225	\N	\N	EFO	6	EFO	skeletal system disease	Benign Samaritan congenital myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324581	"" []	4398226	\N	\N	EFO	6	EFO	genetic disorder	Benign Samaritan congenital myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324581	"" []	5415544	\N	\N	EFO	7	EFO	disease	Benign Samaritan congenital myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324581	"" []	5415545	\N	\N	EFO	7	EFO	disease	Benign Samaritan congenital myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324581	"" []	6151421	\N	\N	EFO	8	EFO	disposition	Benign Samaritan congenital myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324581	"" []	6633643	\N	\N	EFO	9	EFO	material property	Benign Samaritan congenital myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324581	"" []	6926083	\N	\N	EFO	10	EFO	experimental factor	Benign Samaritan congenital myopathy
Orphanet:324585	\N	\N	"" []	Orphanet:324585	"" []	76612	\N	\N	EFO	0	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Orphanet:90114	Orphanet:324585	\N	"" []	Orphanet:324585	"" []	219695	\N	\N	EFO	1	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Orphanet:140450	Orphanet:90114	\N	"" []	Orphanet:324585	"" []	575170	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Orphanet:166	Orphanet:90114	\N	"" []	Orphanet:324585	"" []	575171	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:324585	"" []	1158092	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:324585	"" []	1158093	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:324585	"" []	1158094	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:324585	"" []	2041271	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:324585	"" []	2041272	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:324585	"" []	3191572	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324585	"" []	3191573	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324585	"" []	4398227	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324585	"" []	4398228	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324585	"" []	5415546	\N	\N	EFO	7	EFO	disposition	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324585	"" []	6151422	\N	\N	EFO	8	EFO	material property	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324585	"" []	6633644	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Orphanet:324588	\N	\N	"" []	Orphanet:324588	"" []	76613	\N	\N	EFO	0	EFO	Familial dyskinesia and facial myokymia	Familial dyskinesia and facial myokymia
Orphanet:306768	Orphanet:324588	\N	"" []	Orphanet:324588	"" []	219696	\N	\N	EFO	1	EFO	Rare paroxysmal movement disorder	Familial dyskinesia and facial myokymia
Orphanet:183521	Orphanet:306768	\N	"" []	Orphanet:324588	"" []	575172	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Familial dyskinesia and facial myokymia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:324588	"" []	1158095	\N	\N	EFO	3	EFO	movement disorder	Familial dyskinesia and facial myokymia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:324588	"" []	1158096	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Familial dyskinesia and facial myokymia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:324588	"" []	2041273	\N	\N	EFO	4	EFO	nervous system disease	Familial dyskinesia and facial myokymia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324588	"" []	2041274	\N	\N	EFO	4	EFO	genetic disorder	Familial dyskinesia and facial myokymia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324588	"" []	3191574	\N	\N	EFO	5	EFO	disease	Familial dyskinesia and facial myokymia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324588	"" []	3191575	\N	\N	EFO	5	EFO	disease	Familial dyskinesia and facial myokymia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324588	"" []	4398229	\N	\N	EFO	6	EFO	disposition	Familial dyskinesia and facial myokymia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324588	"" []	5415547	\N	\N	EFO	7	EFO	material property	Familial dyskinesia and facial myokymia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324588	"" []	6151423	\N	\N	EFO	8	EFO	experimental factor	Familial dyskinesia and facial myokymia
Orphanet:3246	\N	\N	"" []	Orphanet:3246	"" []	76614	\N	\N	EFO	0	EFO	Symphalangism with multiple anomalies of hands and feet	Symphalangism with multiple anomalies of hands and feet
Orphanet:294959	Orphanet:3246	\N	"" []	Orphanet:3246	"" []	219697	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Symphalangism with multiple anomalies of hands and feet
Orphanet:93459	Orphanet:3246	\N	"" []	Orphanet:3246	"" []	219698	\N	\N	EFO	1	EFO	Syndrome with synostosis or other joint formation defect	Symphalangism with multiple anomalies of hands and feet
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:3246	"" []	575173	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Symphalangism with multiple anomalies of hands and feet
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:3246	"" []	575174	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Symphalangism with multiple anomalies of hands and feet
Orphanet:404571	Orphanet:93459	\N	"" []	Orphanet:3246	"" []	575175	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Symphalangism with multiple anomalies of hands and feet
Orphanet:404577	Orphanet:93459	\N	"" []	Orphanet:3246	"" []	575176	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Symphalangism with multiple anomalies of hands and feet
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3246	"" []	1158097	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Symphalangism with multiple anomalies of hands and feet
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3246	"" []	1158098	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Symphalangism with multiple anomalies of hands and feet
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3246	"" []	2041275	\N	\N	EFO	4	EFO	Rare genetic bone disease	Symphalangism with multiple anomalies of hands and feet
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3246	"" []	2041276	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Symphalangism with multiple anomalies of hands and feet
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3246	"" []	2041277	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Symphalangism with multiple anomalies of hands and feet
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3246	"" []	3191576	\N	\N	EFO	5	EFO	genetic disorder	Symphalangism with multiple anomalies of hands and feet
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3246	"" []	3191577	\N	\N	EFO	5	EFO	bone disease	Symphalangism with multiple anomalies of hands and feet
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3246	"" []	3191578	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Symphalangism with multiple anomalies of hands and feet
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3246	"" []	4398232	\N	\N	EFO	6	EFO	genetic disorder	Symphalangism with multiple anomalies of hands and feet
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3246	"" []	5182672	\N	\N	EFO	7	EFO	disease	Symphalangism with multiple anomalies of hands and feet
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3246	"" []	4398231	\N	\N	EFO	6	EFO	skeletal system disease	Symphalangism with multiple anomalies of hands and feet
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3246	"" []	5998050	\N	\N	EFO	8	EFO	disposition	Symphalangism with multiple anomalies of hands and feet
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3246	"" []	5415549	\N	\N	EFO	7	EFO	disease	Symphalangism with multiple anomalies of hands and feet
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3246	"" []	6551343	\N	\N	EFO	9	EFO	material property	Symphalangism with multiple anomalies of hands and feet
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3246	"" []	6889404	\N	\N	EFO	10	EFO	experimental factor	Symphalangism with multiple anomalies of hands and feet
Orphanet:324601	\N	\N	"" []	Orphanet:324601	"" []	76615	\N	\N	EFO	0	EFO	X-linked cleft palate and ankyloglossia	X-linked cleft palate and ankyloglossia
Orphanet:139039	Orphanet:324601	\N	"" []	Orphanet:324601	"" []	219699	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	X-linked cleft palate and ankyloglossia
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:324601	"" []	575177	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	X-linked cleft palate and ankyloglossia
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:324601	"" []	1158099	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	X-linked cleft palate and ankyloglossia
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:324601	"" []	2041278	\N	\N	EFO	4	EFO	Genetic head and neck malformation	X-linked cleft palate and ankyloglossia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:324601	"" []	3191580	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked cleft palate and ankyloglossia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324601	"" []	4398233	\N	\N	EFO	6	EFO	genetic disorder	X-linked cleft palate and ankyloglossia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324601	"" []	5415550	\N	\N	EFO	7	EFO	disease	X-linked cleft palate and ankyloglossia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324601	"" []	6151425	\N	\N	EFO	8	EFO	disposition	X-linked cleft palate and ankyloglossia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324601	"" []	6633646	\N	\N	EFO	9	EFO	material property	X-linked cleft palate and ankyloglossia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324601	"" []	6926084	\N	\N	EFO	10	EFO	experimental factor	X-linked cleft palate and ankyloglossia
Orphanet:324604	\N	\N	"" []	Orphanet:324604	"" []	76616	\N	\N	EFO	0	EFO	Classic multiminicore myopathy	Classic multiminicore myopathy
Orphanet:598	Orphanet:324604	\N	"" []	Orphanet:324604	"" []	219700	\N	\N	EFO	1	EFO	Multiminicore myopathy	Classic multiminicore myopathy
Orphanet:172976	Orphanet:598	\N	"" []	Orphanet:324604	"" []	575178	\N	\N	EFO	2	EFO	Congenital myopathy with cores	Classic multiminicore myopathy
Orphanet:209193	Orphanet:598	\N	"" []	Orphanet:324604	"" []	575179	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of selenoprotein N1	Classic multiminicore myopathy
Orphanet:97245	Orphanet:172976	\N	"" []	Orphanet:324604	"" []	1158100	\N	\N	EFO	3	EFO	Congenital myopathy	Classic multiminicore myopathy
Orphanet:207049	Orphanet:209193	\N	"" []	Orphanet:324604	"" []	1158101	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Classic multiminicore myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:324604	"" []	2041279	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Classic multiminicore myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:324604	"" []	2041280	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Classic multiminicore myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:324604	"" []	3191581	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Classic multiminicore myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:324604	"" []	5415551	\N	\N	EFO	7	EFO	muscular disease	Classic multiminicore myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:324604	"" []	5415552	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Classic multiminicore myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:324604	"" []	4398234	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Classic multiminicore myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:324604	"" []	5877358	\N	\N	EFO	8	EFO	skeletal system disease	Classic multiminicore myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324604	"" []	5877359	\N	\N	EFO	8	EFO	genetic disorder	Classic multiminicore myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324604	"" []	6470595	\N	\N	EFO	9	EFO	disease	Classic multiminicore myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324604	"" []	6470596	\N	\N	EFO	9	EFO	disease	Classic multiminicore myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324604	"" []	6848615	\N	\N	EFO	10	EFO	disposition	Classic multiminicore myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324604	"" []	7068491	\N	\N	EFO	11	EFO	material property	Classic multiminicore myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324604	"" []	7197167	\N	\N	EFO	12	EFO	experimental factor	Classic multiminicore myopathy
Orphanet:324611	\N	\N	"" []	Orphanet:324611	"" []	76617	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Orphanet:64746	Orphanet:324611	\N	"" []	Orphanet:324611	"" []	219701	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:324611	"" []	575180	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:324611	"" []	575181	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:324611	"" []	1158102	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:324611	"" []	1158103	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:324611	"" []	2041281	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:324611	"" []	2041282	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:324611	"" []	3191585	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:324611	"" []	3191584	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324611	"" []	4133893	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:324611	"" []	4398237	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324611	"" []	5182673	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324611	"" []	5415555	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324611	"" []	5998051	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324611	"" []	6551344	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324611	"" []	6889405	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Orphanet:324703	\N	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	76618	\N	\N	EFO	0	EFO	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Orphanet:85458	Orphanet:324703	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	219702	\N	\N	EFO	1	EFO	Hereditary cerebral hemorrhage with amyloidosis	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Orphanet:183503	Orphanet:85458	\N	"" []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	575182	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Orphanet:371439	Orphanet:85458	\N	"" []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	575183	\N	\N	EFO	2	EFO	Genetic cerebrovascular dementia	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	1158104	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
EFO:0003763	Orphanet:371439	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	1158105	\N	\N	EFO	3	EFO	cerebrovascular disorder	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Orphanet:158124	Orphanet:371439	\N	"" []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	1158106	\N	\N	EFO	3	EFO	Genetic dementia	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	3191590	\N	\N	EFO	5	EFO	genetic disorder	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	2041285	\N	\N	EFO	4	EFO	vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	2041286	\N	\N	EFO	4	EFO	brain disease	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	2041287	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	4133894	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	3191588	\N	\N	EFO	5	EFO	cardiovascular disease	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	3191589	\N	\N	EFO	5	EFO	nervous system disease	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	5182674	\N	\N	EFO	7	EFO	disposition	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	4398240	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	4398241	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	5998052	\N	\N	EFO	8	EFO	material property	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324703	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." []	6551345	\N	\N	EFO	9	EFO	experimental factor	Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Orphanet:324708	\N	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	76619	\N	\N	EFO	0	EFO	Hereditary cerebral hemorrhage with amyloidosis, Iowa type	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Orphanet:85458	Orphanet:324708	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	219703	\N	\N	EFO	1	EFO	Hereditary cerebral hemorrhage with amyloidosis	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Orphanet:183503	Orphanet:85458	\N	"" []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	575184	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Orphanet:371439	Orphanet:85458	\N	"" []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	575185	\N	\N	EFO	2	EFO	Genetic cerebrovascular dementia	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	1158107	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
EFO:0003763	Orphanet:371439	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	1158108	\N	\N	EFO	3	EFO	cerebrovascular disorder	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Orphanet:158124	Orphanet:371439	\N	"" []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	1158109	\N	\N	EFO	3	EFO	Genetic dementia	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	3191594	\N	\N	EFO	5	EFO	genetic disorder	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	2041289	\N	\N	EFO	4	EFO	vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	2041290	\N	\N	EFO	4	EFO	brain disease	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	2041291	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	4133895	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	3191592	\N	\N	EFO	5	EFO	cardiovascular disease	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	3191593	\N	\N	EFO	5	EFO	nervous system disease	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	5182675	\N	\N	EFO	7	EFO	disposition	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	4398243	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	4398244	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	5998053	\N	\N	EFO	8	EFO	material property	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324708	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." []	6551346	\N	\N	EFO	9	EFO	experimental factor	Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Orphanet:324713	\N	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	76620	\N	\N	EFO	0	EFO	Hereditary cerebral hemorrhage with amyloidosis, Italian type	Hereditary cerebral hemorrhage with amyloidosis, Italian type
Orphanet:85458	Orphanet:324713	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	219704	\N	\N	EFO	1	EFO	Hereditary cerebral hemorrhage with amyloidosis	Hereditary cerebral hemorrhage with amyloidosis, Italian type
Orphanet:183503	Orphanet:85458	\N	"" []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	575186	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Italian type
Orphanet:371439	Orphanet:85458	\N	"" []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	575187	\N	\N	EFO	2	EFO	Genetic cerebrovascular dementia	Hereditary cerebral hemorrhage with amyloidosis, Italian type
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	1158110	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Italian type
EFO:0003763	Orphanet:371439	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	1158111	\N	\N	EFO	3	EFO	cerebrovascular disorder	Hereditary cerebral hemorrhage with amyloidosis, Italian type
Orphanet:158124	Orphanet:371439	\N	"" []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	1158112	\N	\N	EFO	3	EFO	Genetic dementia	Hereditary cerebral hemorrhage with amyloidosis, Italian type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	3191598	\N	\N	EFO	5	EFO	genetic disorder	Hereditary cerebral hemorrhage with amyloidosis, Italian type
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	2041293	\N	\N	EFO	4	EFO	vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Italian type
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	2041294	\N	\N	EFO	4	EFO	brain disease	Hereditary cerebral hemorrhage with amyloidosis, Italian type
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	2041295	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Italian type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	4133896	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Italian type
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	3191596	\N	\N	EFO	5	EFO	cardiovascular disease	Hereditary cerebral hemorrhage with amyloidosis, Italian type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	3191597	\N	\N	EFO	5	EFO	nervous system disease	Hereditary cerebral hemorrhage with amyloidosis, Italian type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	5182676	\N	\N	EFO	7	EFO	disposition	Hereditary cerebral hemorrhage with amyloidosis, Italian type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	4398246	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Italian type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	4398247	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Italian type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	5998054	\N	\N	EFO	8	EFO	material property	Hereditary cerebral hemorrhage with amyloidosis, Italian type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324713	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." []	6551347	\N	\N	EFO	9	EFO	experimental factor	Hereditary cerebral hemorrhage with amyloidosis, Italian type
Orphanet:324718	\N	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	76621	\N	\N	EFO	0	EFO	Hereditary cerebral hemorrhage with amyloidosis, Flemish type	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Orphanet:85458	Orphanet:324718	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	219705	\N	\N	EFO	1	EFO	Hereditary cerebral hemorrhage with amyloidosis	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Orphanet:183503	Orphanet:85458	\N	"" []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	575188	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Orphanet:371439	Orphanet:85458	\N	"" []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	575189	\N	\N	EFO	2	EFO	Genetic cerebrovascular dementia	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	1158113	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
EFO:0003763	Orphanet:371439	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	1158114	\N	\N	EFO	3	EFO	cerebrovascular disorder	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Orphanet:158124	Orphanet:371439	\N	"" []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	1158115	\N	\N	EFO	3	EFO	Genetic dementia	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	3191602	\N	\N	EFO	5	EFO	genetic disorder	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	2041297	\N	\N	EFO	4	EFO	vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	2041298	\N	\N	EFO	4	EFO	brain disease	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	2041299	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	4133897	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	3191600	\N	\N	EFO	5	EFO	cardiovascular disease	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	3191601	\N	\N	EFO	5	EFO	nervous system disease	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	5182677	\N	\N	EFO	7	EFO	disposition	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	4398249	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	4398250	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	5998055	\N	\N	EFO	8	EFO	material property	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324718	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." []	6551348	\N	\N	EFO	9	EFO	experimental factor	Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Orphanet:324723	\N	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	76622	\N	\N	EFO	0	EFO	Hereditary cerebral hemorrhage with amyloidosis, Arctic type	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Orphanet:85458	Orphanet:324723	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	219706	\N	\N	EFO	1	EFO	Hereditary cerebral hemorrhage with amyloidosis	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Orphanet:183503	Orphanet:85458	\N	"" []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	575190	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Orphanet:371439	Orphanet:85458	\N	"" []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	575191	\N	\N	EFO	2	EFO	Genetic cerebrovascular dementia	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	1158116	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
EFO:0003763	Orphanet:371439	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	1158117	\N	\N	EFO	3	EFO	cerebrovascular disorder	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Orphanet:158124	Orphanet:371439	\N	"" []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	1158118	\N	\N	EFO	3	EFO	Genetic dementia	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	3191606	\N	\N	EFO	5	EFO	genetic disorder	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	2041301	\N	\N	EFO	4	EFO	vascular disease	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	2041302	\N	\N	EFO	4	EFO	brain disease	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	2041303	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	4133898	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	3191604	\N	\N	EFO	5	EFO	cardiovascular disease	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	3191605	\N	\N	EFO	5	EFO	nervous system disease	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	5182678	\N	\N	EFO	7	EFO	disposition	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	4398252	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	4398253	\N	\N	EFO	6	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	5998056	\N	\N	EFO	8	EFO	material property	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324723	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." []	6551349	\N	\N	EFO	9	EFO	experimental factor	Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Orphanet:324737	\N	\N	"" []	Orphanet:324737	"" []	76623	\N	\N	EFO	0	EFO	SRD5A3-CDG	SRD5A3-CDG
Orphanet:309526	Orphanet:324737	\N	"" []	Orphanet:324737	"" []	219707	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	SRD5A3-CDG
Orphanet:371064	Orphanet:324737	\N	"" []	Orphanet:324737	"" []	219708	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	SRD5A3-CDG
Orphanet:371200	Orphanet:324737	\N	"" []	Orphanet:324737	"" []	219709	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	SRD5A3-CDG
Orphanet:98558	Orphanet:324737	\N	"" []	Orphanet:324737	"" []	219710	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	SRD5A3-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:324737	"" []	575192	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	SRD5A3-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:324737	"" []	575193	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	SRD5A3-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:324737	"" []	575194	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	SRD5A3-CDG
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:324737	"" []	575195	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	SRD5A3-CDG
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:324737	"" []	575196	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	SRD5A3-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:324737	"" []	1158119	\N	\N	EFO	3	EFO	Inborn errors of metabolism	SRD5A3-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:324737	"" []	1158120	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	SRD5A3-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:324737	"" []	1158121	\N	\N	EFO	3	EFO	Neurometabolic disease	SRD5A3-CDG
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:324737	"" []	1158122	\N	\N	EFO	3	EFO	Rare genetic skin disease	SRD5A3-CDG
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:324737	"" []	1158123	\N	\N	EFO	3	EFO	Rare genetic eye disease	SRD5A3-CDG
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:324737	"" []	1158124	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	SRD5A3-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324737	"" []	2041304	\N	\N	EFO	4	EFO	genetic disorder	SRD5A3-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:324737	"" []	2041305	\N	\N	EFO	4	EFO	metabolic disease	SRD5A3-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:324737	"" []	2041306	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	SRD5A3-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:324737	"" []	2041307	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	SRD5A3-CDG
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324737	"" []	2041308	\N	\N	EFO	4	EFO	genetic disorder	SRD5A3-CDG
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:324737	"" []	2041309	\N	\N	EFO	4	EFO	skin disease	SRD5A3-CDG
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324737	"" []	2041310	\N	\N	EFO	4	EFO	genetic disorder	SRD5A3-CDG
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:324737	"" []	2041311	\N	\N	EFO	4	EFO	eye disease	SRD5A3-CDG
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324737	"" []	2041312	\N	\N	EFO	4	EFO	genetic disorder	SRD5A3-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324737	"" []	5182680	\N	\N	EFO	7	EFO	disease	SRD5A3-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324737	"" []	3191608	\N	\N	EFO	5	EFO	disease	SRD5A3-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:324737	"" []	3191609	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	SRD5A3-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324737	"" []	4398255	\N	\N	EFO	6	EFO	genetic disorder	SRD5A3-CDG
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324737	"" []	3191611	\N	\N	EFO	5	EFO	disease	SRD5A3-CDG
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324737	"" []	3191612	\N	\N	EFO	5	EFO	disease	SRD5A3-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324737	"" []	5877360	\N	\N	EFO	8	EFO	disposition	SRD5A3-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324737	"" []	6470597	\N	\N	EFO	9	EFO	material property	SRD5A3-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324737	"" []	6848616	\N	\N	EFO	10	EFO	experimental factor	SRD5A3-CDG
Orphanet:324761	\N	\N	"" []	Orphanet:324761	"" []	76624	\N	\N	EFO	0	EFO	Microcephalic primordial dwarfism	Microcephalic primordial dwarfism
Orphanet:102283	Orphanet:324761	\N	"" []	Orphanet:324761	"" []	219711	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephalic primordial dwarfism
Orphanet:183763	Orphanet:324761	\N	"" []	Orphanet:324761	"" []	219712	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephalic primordial dwarfism
Orphanet:269528	Orphanet:324761	\N	"" []	Orphanet:324761	"" []	219713	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Microcephalic primordial dwarfism
Orphanet:93440	Orphanet:324761	\N	"" []	Orphanet:324761	"" []	219714	\N	\N	EFO	1	EFO	Slender bone dysplasia	Microcephalic primordial dwarfism
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:324761	"" []	575197	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephalic primordial dwarfism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:324761	"" []	575198	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microcephalic primordial dwarfism
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:324761	"" []	575199	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephalic primordial dwarfism
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:324761	"" []	575200	\N	\N	EFO	2	EFO	Primary bone dysplasia	Microcephalic primordial dwarfism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:324761	"" []	1158125	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:324761	"" []	1158126	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephalic primordial dwarfism
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:324761	"" []	1158127	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microcephalic primordial dwarfism
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:324761	"" []	1158128	\N	\N	EFO	3	EFO	Rare genetic bone disease	Microcephalic primordial dwarfism
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:324761	"" []	1158129	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Microcephalic primordial dwarfism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324761	"" []	3191614	\N	\N	EFO	5	EFO	genetic disorder	Microcephalic primordial dwarfism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324761	"" []	3191615	\N	\N	EFO	5	EFO	genetic disorder	Microcephalic primordial dwarfism
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:324761	"" []	2041315	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:324761	"" []	2041316	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephalic primordial dwarfism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324761	"" []	2041317	\N	\N	EFO	4	EFO	genetic disorder	Microcephalic primordial dwarfism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:324761	"" []	2041318	\N	\N	EFO	4	EFO	bone disease	Microcephalic primordial dwarfism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:324761	"" []	2041319	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324761	"" []	4133899	\N	\N	EFO	6	EFO	disease	Microcephalic primordial dwarfism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:324761	"" []	3191616	\N	\N	EFO	5	EFO	skeletal system disease	Microcephalic primordial dwarfism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324761	"" []	5182681	\N	\N	EFO	7	EFO	disposition	Microcephalic primordial dwarfism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324761	"" []	4398258	\N	\N	EFO	6	EFO	disease	Microcephalic primordial dwarfism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324761	"" []	5998058	\N	\N	EFO	8	EFO	material property	Microcephalic primordial dwarfism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324761	"" []	6551351	\N	\N	EFO	9	EFO	experimental factor	Microcephalic primordial dwarfism
Orphanet:324764	\N	\N	"" []	Orphanet:324764	"" []	76625	\N	\N	EFO	0	EFO	Trichorhinophalangeal syndrome	Trichorhinophalangeal syndrome
Orphanet:79373	Orphanet:324764	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:324764	"" []	219715	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Trichorhinophalangeal syndrome
Orphanet:93436	Orphanet:324764	\N	"" []	Orphanet:324764	"" []	219716	\N	\N	EFO	1	EFO	Acromelic dysplasia	Trichorhinophalangeal syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:324764	"" []	575201	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Trichorhinophalangeal syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:324764	"" []	575202	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Trichorhinophalangeal syndrome
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:324764	"" []	575203	\N	\N	EFO	2	EFO	Primary bone dysplasia	Trichorhinophalangeal syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:324764	"" []	1158130	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trichorhinophalangeal syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:324764	"" []	1158131	\N	\N	EFO	3	EFO	Rare genetic skin disease	Trichorhinophalangeal syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:324764	"" []	1158132	\N	\N	EFO	3	EFO	Rare genetic bone disease	Trichorhinophalangeal syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:324764	"" []	1158133	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Trichorhinophalangeal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324764	"" []	3191620	\N	\N	EFO	5	EFO	genetic disorder	Trichorhinophalangeal syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324764	"" []	2041321	\N	\N	EFO	4	EFO	genetic disorder	Trichorhinophalangeal syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:324764	"" []	2041322	\N	\N	EFO	4	EFO	skin disease	Trichorhinophalangeal syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324764	"" []	2041323	\N	\N	EFO	4	EFO	genetic disorder	Trichorhinophalangeal syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:324764	"" []	2041324	\N	\N	EFO	4	EFO	bone disease	Trichorhinophalangeal syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:324764	"" []	2041325	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Trichorhinophalangeal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324764	"" []	4133900	\N	\N	EFO	6	EFO	disease	Trichorhinophalangeal syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324764	"" []	3191618	\N	\N	EFO	5	EFO	disease	Trichorhinophalangeal syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:324764	"" []	3191619	\N	\N	EFO	5	EFO	skeletal system disease	Trichorhinophalangeal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324764	"" []	5182682	\N	\N	EFO	7	EFO	disposition	Trichorhinophalangeal syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324764	"" []	4398260	\N	\N	EFO	6	EFO	disease	Trichorhinophalangeal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324764	"" []	5998059	\N	\N	EFO	8	EFO	material property	Trichorhinophalangeal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324764	"" []	6551352	\N	\N	EFO	9	EFO	experimental factor	Trichorhinophalangeal syndrome
Orphanet:3248	\N	\N	"" []	Orphanet:3248	"" []	76626	\N	\N	EFO	0	EFO	Distal symphalangism	Distal symphalangism
Orphanet:294949	Orphanet:3248	\N	"" []	Orphanet:3248	"" []	219717	\N	\N	EFO	1	EFO	Joint formation defects	Distal symphalangism
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:3248	"" []	575204	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Distal symphalangism
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:3248	"" []	575205	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Distal symphalangism
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:3248	"" []	1158134	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Distal symphalangism
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3248	"" []	1158135	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Distal symphalangism
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3248	"" []	2041326	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Distal symphalangism
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3248	"" []	2041327	\N	\N	EFO	4	EFO	Rare genetic bone disease	Distal symphalangism
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3248	"" []	2041328	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Distal symphalangism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3248	"" []	4398263	\N	\N	EFO	6	EFO	genetic disorder	Distal symphalangism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3248	"" []	3191622	\N	\N	EFO	5	EFO	genetic disorder	Distal symphalangism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3248	"" []	3191623	\N	\N	EFO	5	EFO	bone disease	Distal symphalangism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3248	"" []	3191624	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Distal symphalangism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3248	"" []	5182683	\N	\N	EFO	7	EFO	disease	Distal symphalangism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3248	"" []	4398262	\N	\N	EFO	6	EFO	skeletal system disease	Distal symphalangism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3248	"" []	5998060	\N	\N	EFO	8	EFO	disposition	Distal symphalangism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3248	"" []	5415566	\N	\N	EFO	7	EFO	disease	Distal symphalangism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3248	"" []	6551353	\N	\N	EFO	9	EFO	material property	Distal symphalangism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3248	"" []	6889406	\N	\N	EFO	10	EFO	experimental factor	Distal symphalangism
Orphanet:324924	\N	\N	"" []	Orphanet:324924	"" []	76627	\N	\N	EFO	0	EFO	Hereditary periodic fever syndrome	Hereditary periodic fever syndrome
Orphanet:271870	Orphanet:324924	\N	"" []	Orphanet:324924	"" []	219718	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	Hereditary periodic fever syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324924	"" []	575206	\N	\N	EFO	2	EFO	genetic disorder	Hereditary periodic fever syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324924	"" []	1158136	\N	\N	EFO	3	EFO	disease	Hereditary periodic fever syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324924	"" []	2041329	\N	\N	EFO	4	EFO	disposition	Hereditary periodic fever syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324924	"" []	3191625	\N	\N	EFO	5	EFO	material property	Hereditary periodic fever syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324924	"" []	4398264	\N	\N	EFO	6	EFO	experimental factor	Hereditary periodic fever syndrome
Orphanet:324977	\N	\N	" gene (6p21.3)." []	Orphanet:324977	" gene (6p21.3)." []	76628	\N	\N	EFO	0	EFO	Proteasome disability syndrome	Proteasome disability syndrome
Orphanet:271870	Orphanet:324977	\N	"" []	Orphanet:324977	" gene (6p21.3)." []	219719	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	Proteasome disability syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324977	" gene (6p21.3)." []	575207	\N	\N	EFO	2	EFO	genetic disorder	Proteasome disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324977	" gene (6p21.3)." []	1158137	\N	\N	EFO	3	EFO	disease	Proteasome disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324977	" gene (6p21.3)." []	2041330	\N	\N	EFO	4	EFO	disposition	Proteasome disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324977	" gene (6p21.3)." []	3191626	\N	\N	EFO	5	EFO	material property	Proteasome disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324977	" gene (6p21.3)." []	4398265	\N	\N	EFO	6	EFO	experimental factor	Proteasome disability syndrome
Orphanet:324999	\N	\N	"Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature." []	Orphanet:324999	"Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature." []	76629	\N	\N	EFO	0	EFO	JMP syndrome	JMP syndrome
Orphanet:324977	Orphanet:324999	\N	" gene (6p21.3)." []	Orphanet:324999	"Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature." []	219720	\N	\N	EFO	1	EFO	Proteasome disability syndrome	JMP syndrome
Orphanet:271870	Orphanet:324977	\N	"" []	Orphanet:324999	"Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature." []	575208	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	JMP syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:324999	"Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature." []	1158138	\N	\N	EFO	3	EFO	genetic disorder	JMP syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:324999	"Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature." []	2041331	\N	\N	EFO	4	EFO	disease	JMP syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:324999	"Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature." []	3191627	\N	\N	EFO	5	EFO	disposition	JMP syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:324999	"Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature." []	4398266	\N	\N	EFO	6	EFO	material property	JMP syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:324999	"Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature." []	5415567	\N	\N	EFO	7	EFO	experimental factor	JMP syndrome
Orphanet:325	\N	\N	"" []	Orphanet:325	"" []	76630	\N	\N	EFO	0	EFO	Congenital factor II deficiency	Congenital factor II deficiency
Orphanet:169826	Orphanet:325	\N	"" []	Orphanet:325	"" []	219721	\N	\N	EFO	1	EFO	Congenital vitamin K-dependent coagulation factors deficiency	Congenital factor II deficiency
Orphanet:68334	Orphanet:169826	\N	"" []	Orphanet:325	"" []	575209	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital factor II deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:325	"" []	1158139	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Congenital factor II deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:325	"" []	2041332	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Congenital factor II deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325	"" []	3191628	\N	\N	EFO	5	EFO	genetic disorder	Congenital factor II deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:325	"" []	3191629	\N	\N	EFO	5	EFO	hematological system disease	Congenital factor II deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325	"" []	4398267	\N	\N	EFO	6	EFO	disease	Congenital factor II deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325	"" []	4398268	\N	\N	EFO	6	EFO	disease	Congenital factor II deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325	"" []	5415568	\N	\N	EFO	7	EFO	disposition	Congenital factor II deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325	"" []	6151437	\N	\N	EFO	8	EFO	material property	Congenital factor II deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325	"" []	6633650	\N	\N	EFO	9	EFO	experimental factor	Congenital factor II deficiency
Orphanet:3250	\N	\N	"" []	Orphanet:3250	"" []	76631	\N	\N	EFO	0	EFO	Proximal symphalangism	Proximal symphalangism
Orphanet:93459	Orphanet:3250	\N	"" []	Orphanet:3250	"" []	219722	\N	\N	EFO	1	EFO	Syndrome with synostosis or other joint formation defect	Proximal symphalangism
Orphanet:404571	Orphanet:93459	\N	"" []	Orphanet:3250	"" []	575210	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Proximal symphalangism
Orphanet:404577	Orphanet:93459	\N	"" []	Orphanet:3250	"" []	575211	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Proximal symphalangism
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3250	"" []	1158140	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Proximal symphalangism
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3250	"" []	1158141	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Proximal symphalangism
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3250	"" []	2041333	\N	\N	EFO	4	EFO	Rare genetic bone disease	Proximal symphalangism
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3250	"" []	2041334	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Proximal symphalangism
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3250	"" []	2041335	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Proximal symphalangism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3250	"" []	3191630	\N	\N	EFO	5	EFO	genetic disorder	Proximal symphalangism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3250	"" []	3191631	\N	\N	EFO	5	EFO	bone disease	Proximal symphalangism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3250	"" []	3191632	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Proximal symphalangism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3250	"" []	4398271	\N	\N	EFO	6	EFO	genetic disorder	Proximal symphalangism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3250	"" []	5182684	\N	\N	EFO	7	EFO	disease	Proximal symphalangism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3250	"" []	4398270	\N	\N	EFO	6	EFO	skeletal system disease	Proximal symphalangism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3250	"" []	5998061	\N	\N	EFO	8	EFO	disposition	Proximal symphalangism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3250	"" []	5415570	\N	\N	EFO	7	EFO	disease	Proximal symphalangism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3250	"" []	6551354	\N	\N	EFO	9	EFO	material property	Proximal symphalangism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3250	"" []	6889407	\N	\N	EFO	10	EFO	experimental factor	Proximal symphalangism
Orphanet:325004	\N	\N	"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development." []	Orphanet:325004	"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development." []	76632	\N	\N	EFO	0	EFO	CANDLE syndrome	CANDLE syndrome
Orphanet:324977	Orphanet:325004	\N	" gene (6p21.3)." []	Orphanet:325004	"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development." []	219723	\N	\N	EFO	1	EFO	Proteasome disability syndrome	CANDLE syndrome
Orphanet:271870	Orphanet:324977	\N	"" []	Orphanet:325004	"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development." []	575212	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	CANDLE syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325004	"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development." []	1158142	\N	\N	EFO	3	EFO	genetic disorder	CANDLE syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325004	"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development." []	2041336	\N	\N	EFO	4	EFO	disease	CANDLE syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325004	"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development." []	3191634	\N	\N	EFO	5	EFO	disposition	CANDLE syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325004	"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development." []	4398272	\N	\N	EFO	6	EFO	material property	CANDLE syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325004	"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development." []	5415571	\N	\N	EFO	7	EFO	experimental factor	CANDLE syndrome
Orphanet:325055	\N	\N	"" []	Orphanet:325055	"" []	76633	\N	\N	EFO	0	EFO	46,XX disorder of gonadal development	46,XX disorder of gonadal development
Orphanet:325697	Orphanet:325055	\N	"" []	Orphanet:325055	"" []	219724	\N	\N	EFO	1	EFO	Genetic 46,XX disorder of sex development	46,XX disorder of gonadal development
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:325055	"" []	575213	\N	\N	EFO	2	EFO	Genetic disorder of sex development	46,XX disorder of gonadal development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325055	"" []	1158143	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	46,XX disorder of gonadal development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325055	"" []	1158144	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	46,XX disorder of gonadal development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325055	"" []	1158145	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	46,XX disorder of gonadal development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325055	"" []	2041337	\N	\N	EFO	4	EFO	genetic disorder	46,XX disorder of gonadal development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325055	"" []	2041338	\N	\N	EFO	4	EFO	genetic disorder	46,XX disorder of gonadal development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325055	"" []	2041339	\N	\N	EFO	4	EFO	endocrine system disease	46,XX disorder of gonadal development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325055	"" []	2041340	\N	\N	EFO	4	EFO	genetic disorder	46,XX disorder of gonadal development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325055	"" []	3191635	\N	\N	EFO	5	EFO	disease	46,XX disorder of gonadal development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325055	"" []	3191636	\N	\N	EFO	5	EFO	disease	46,XX disorder of gonadal development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325055	"" []	4398273	\N	\N	EFO	6	EFO	disposition	46,XX disorder of gonadal development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325055	"" []	5415572	\N	\N	EFO	7	EFO	material property	46,XX disorder of gonadal development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325055	"" []	6151439	\N	\N	EFO	8	EFO	experimental factor	46,XX disorder of gonadal development
Orphanet:325061	\N	\N	"" []	Orphanet:325061	"" []	76634	\N	\N	EFO	0	EFO	46,XX disorder of sex development induced by fetoplacental androgens excess	46,XX disorder of sex development induced by fetoplacental androgens excess
Orphanet:325665	Orphanet:325061	\N	"" []	Orphanet:325061	"" []	219725	\N	\N	EFO	1	EFO	Genetic disorder of sex development of gynecological interest	46,XX disorder of sex development induced by fetoplacental androgens excess
Orphanet:325697	Orphanet:325061	\N	"" []	Orphanet:325061	"" []	219726	\N	\N	EFO	1	EFO	Genetic 46,XX disorder of sex development	46,XX disorder of sex development induced by fetoplacental androgens excess
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:325061	"" []	575214	\N	\N	EFO	2	EFO	Rare genetic gynecological and obstetrical diseases	46,XX disorder of sex development induced by fetoplacental androgens excess
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:325061	"" []	575215	\N	\N	EFO	2	EFO	Genetic disorder of sex development	46,XX disorder of sex development induced by fetoplacental androgens excess
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325061	"" []	1158146	\N	\N	EFO	3	EFO	genetic disorder	46,XX disorder of sex development induced by fetoplacental androgens excess
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:325061	"" []	1158147	\N	\N	EFO	3	EFO	reproductive system disease	46,XX disorder of sex development induced by fetoplacental androgens excess
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325061	"" []	1158148	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	46,XX disorder of sex development induced by fetoplacental androgens excess
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325061	"" []	1158149	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	46,XX disorder of sex development induced by fetoplacental androgens excess
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325061	"" []	1158150	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	46,XX disorder of sex development induced by fetoplacental androgens excess
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325061	"" []	3191638	\N	\N	EFO	5	EFO	disease	46,XX disorder of sex development induced by fetoplacental androgens excess
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325061	"" []	2041342	\N	\N	EFO	4	EFO	disease	46,XX disorder of sex development induced by fetoplacental androgens excess
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325061	"" []	2041343	\N	\N	EFO	4	EFO	genetic disorder	46,XX disorder of sex development induced by fetoplacental androgens excess
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325061	"" []	2041344	\N	\N	EFO	4	EFO	genetic disorder	46,XX disorder of sex development induced by fetoplacental androgens excess
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325061	"" []	2041345	\N	\N	EFO	4	EFO	endocrine system disease	46,XX disorder of sex development induced by fetoplacental androgens excess
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325061	"" []	2041346	\N	\N	EFO	4	EFO	genetic disorder	46,XX disorder of sex development induced by fetoplacental androgens excess
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325061	"" []	4133901	\N	\N	EFO	6	EFO	disposition	46,XX disorder of sex development induced by fetoplacental androgens excess
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325061	"" []	3191639	\N	\N	EFO	5	EFO	disease	46,XX disorder of sex development induced by fetoplacental androgens excess
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325061	"" []	5182685	\N	\N	EFO	7	EFO	material property	46,XX disorder of sex development induced by fetoplacental androgens excess
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325061	"" []	5998062	\N	\N	EFO	8	EFO	experimental factor	46,XX disorder of sex development induced by fetoplacental androgens excess
Orphanet:325109	\N	\N	"" []	Orphanet:325109	"" []	76635	\N	\N	EFO	0	EFO	Syndrome with 46,XX disorder of sex development	Syndrome with 46,XX disorder of sex development
Orphanet:325697	Orphanet:325109	\N	"" []	Orphanet:325109	"" []	219727	\N	\N	EFO	1	EFO	Genetic 46,XX disorder of sex development	Syndrome with 46,XX disorder of sex development
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:325109	"" []	575216	\N	\N	EFO	2	EFO	Genetic disorder of sex development	Syndrome with 46,XX disorder of sex development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325109	"" []	1158151	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Syndrome with 46,XX disorder of sex development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325109	"" []	1158152	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Syndrome with 46,XX disorder of sex development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325109	"" []	1158153	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndrome with 46,XX disorder of sex development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325109	"" []	2041347	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with 46,XX disorder of sex development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325109	"" []	2041348	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with 46,XX disorder of sex development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325109	"" []	2041349	\N	\N	EFO	4	EFO	endocrine system disease	Syndrome with 46,XX disorder of sex development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325109	"" []	2041350	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with 46,XX disorder of sex development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325109	"" []	3191640	\N	\N	EFO	5	EFO	disease	Syndrome with 46,XX disorder of sex development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325109	"" []	3191641	\N	\N	EFO	5	EFO	disease	Syndrome with 46,XX disorder of sex development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325109	"" []	4398275	\N	\N	EFO	6	EFO	disposition	Syndrome with 46,XX disorder of sex development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325109	"" []	5415574	\N	\N	EFO	7	EFO	material property	Syndrome with 46,XX disorder of sex development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325109	"" []	6151440	\N	\N	EFO	8	EFO	experimental factor	Syndrome with 46,XX disorder of sex development
Orphanet:325118	\N	\N	"" []	Orphanet:325118	"" []	76636	\N	\N	EFO	0	EFO	46,XY disorder of gonadal development	46,XY disorder of gonadal development
Orphanet:325706	Orphanet:325118	\N	"" []	Orphanet:325118	"" []	219728	\N	\N	EFO	1	EFO	Genetic 46,XY disorder of sex development	46,XY disorder of gonadal development
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:325118	"" []	575217	\N	\N	EFO	2	EFO	Genetic disorder of sex development	46,XY disorder of gonadal development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325118	"" []	1158154	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	46,XY disorder of gonadal development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325118	"" []	1158155	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	46,XY disorder of gonadal development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325118	"" []	1158156	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	46,XY disorder of gonadal development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325118	"" []	2041351	\N	\N	EFO	4	EFO	genetic disorder	46,XY disorder of gonadal development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325118	"" []	2041352	\N	\N	EFO	4	EFO	genetic disorder	46,XY disorder of gonadal development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325118	"" []	2041353	\N	\N	EFO	4	EFO	endocrine system disease	46,XY disorder of gonadal development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325118	"" []	2041354	\N	\N	EFO	4	EFO	genetic disorder	46,XY disorder of gonadal development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325118	"" []	3191642	\N	\N	EFO	5	EFO	disease	46,XY disorder of gonadal development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325118	"" []	3191643	\N	\N	EFO	5	EFO	disease	46,XY disorder of gonadal development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325118	"" []	4398276	\N	\N	EFO	6	EFO	disposition	46,XY disorder of gonadal development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325118	"" []	5415575	\N	\N	EFO	7	EFO	material property	46,XY disorder of gonadal development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325118	"" []	6151441	\N	\N	EFO	8	EFO	experimental factor	46,XY disorder of gonadal development
Orphanet:325124	\N	\N	"" []	Orphanet:325124	"" []	76637	\N	\N	EFO	0	EFO	Testicular agenesis	Testicular agenesis
Orphanet:325118	Orphanet:325124	\N	"" []	Orphanet:325124	"" []	219729	\N	\N	EFO	1	EFO	46,XY disorder of gonadal development	Testicular agenesis
Orphanet:98313	Orphanet:325124	\N	"" []	Orphanet:325124	"" []	219730	\N	\N	EFO	1	EFO	Male infertility due to gonadal dysgenesis	Testicular agenesis
Orphanet:325706	Orphanet:325118	\N	"" []	Orphanet:325124	"" []	575218	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Testicular agenesis
Orphanet:399764	Orphanet:98313	\N	"" []	Orphanet:325124	"" []	575219	\N	\N	EFO	2	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Testicular agenesis
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:325124	"" []	1158157	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Testicular agenesis
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:325124	"" []	1158158	\N	\N	EFO	3	EFO	Rare genetic male infertility	Testicular agenesis
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325124	"" []	2041355	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Testicular agenesis
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325124	"" []	2041356	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Testicular agenesis
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325124	"" []	2041357	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Testicular agenesis
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:325124	"" []	2041358	\N	\N	EFO	4	EFO	Genetic infertility	Testicular agenesis
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325124	"" []	3191644	\N	\N	EFO	5	EFO	genetic disorder	Testicular agenesis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325124	"" []	3191645	\N	\N	EFO	5	EFO	genetic disorder	Testicular agenesis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325124	"" []	3191646	\N	\N	EFO	5	EFO	endocrine system disease	Testicular agenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325124	"" []	3191647	\N	\N	EFO	5	EFO	genetic disorder	Testicular agenesis
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325124	"" []	3191648	\N	\N	EFO	5	EFO	genetic disorder	Testicular agenesis
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:325124	"" []	3191649	\N	\N	EFO	5	EFO	reproductive system disease	Testicular agenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325124	"" []	4398277	\N	\N	EFO	6	EFO	disease	Testicular agenesis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325124	"" []	4398278	\N	\N	EFO	6	EFO	disease	Testicular agenesis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325124	"" []	4398279	\N	\N	EFO	6	EFO	disease	Testicular agenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325124	"" []	5415576	\N	\N	EFO	7	EFO	disposition	Testicular agenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325124	"" []	6151442	\N	\N	EFO	8	EFO	material property	Testicular agenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325124	"" []	6633652	\N	\N	EFO	9	EFO	experimental factor	Testicular agenesis
Orphanet:3253	\N	\N	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	76638	\N	\N	EFO	0	EFO	Zlotogora-Ogur syndrome	Zlotogora-Ogur syndrome
Orphanet:139039	Orphanet:3253	\N	"" []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	219731	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Zlotogora-Ogur syndrome
Orphanet:320317	Orphanet:3253	\N	"" []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	219732	\N	\N	EFO	1	EFO	Cleft lip/palate - ectodermal dysplasia	Zlotogora-Ogur syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	575220	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Zlotogora-Ogur syndrome
Orphanet:79373	Orphanet:320317	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	575221	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Zlotogora-Ogur syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	1158159	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Zlotogora-Ogur syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	1158160	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Zlotogora-Ogur syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	1158161	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Zlotogora-Ogur syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	2041359	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Zlotogora-Ogur syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	2041360	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Zlotogora-Ogur syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	2041361	\N	\N	EFO	4	EFO	Rare genetic skin disease	Zlotogora-Ogur syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	3191650	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Zlotogora-Ogur syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	4398280	\N	\N	EFO	6	EFO	genetic disorder	Zlotogora-Ogur syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	3191652	\N	\N	EFO	5	EFO	genetic disorder	Zlotogora-Ogur syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	3191653	\N	\N	EFO	5	EFO	skin disease	Zlotogora-Ogur syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	5182686	\N	\N	EFO	7	EFO	disease	Zlotogora-Ogur syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	4398282	\N	\N	EFO	6	EFO	disease	Zlotogora-Ogur syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	5998063	\N	\N	EFO	8	EFO	disposition	Zlotogora-Ogur syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	6551355	\N	\N	EFO	9	EFO	material property	Zlotogora-Ogur syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3253	"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." []	6889408	\N	\N	EFO	10	EFO	experimental factor	Zlotogora-Ogur syndrome
Orphanet:325345	\N	\N	"" []	Orphanet:325345	"" []	76639	\N	\N	EFO	0	EFO	46,XY ovotesticular disorder of sex development	46,XY ovotesticular disorder of sex development
Orphanet:325118	Orphanet:325345	\N	"" []	Orphanet:325345	"" []	219733	\N	\N	EFO	1	EFO	46,XY disorder of gonadal development	46,XY ovotesticular disorder of sex development
Orphanet:98074	Orphanet:325345	\N	"" []	Orphanet:325345	"" []	219734	\N	\N	EFO	1	EFO	Gonadal dysgenesis of gynecological interest	46,XY ovotesticular disorder of sex development
Orphanet:325706	Orphanet:325118	\N	"" []	Orphanet:325345	"" []	575222	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	46,XY ovotesticular disorder of sex development
Orphanet:325665	Orphanet:98074	\N	"" []	Orphanet:325345	"" []	575223	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	46,XY ovotesticular disorder of sex development
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:325345	"" []	1158162	\N	\N	EFO	3	EFO	Genetic disorder of sex development	46,XY ovotesticular disorder of sex development
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:325345	"" []	1158163	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	46,XY ovotesticular disorder of sex development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325345	"" []	2041362	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	46,XY ovotesticular disorder of sex development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325345	"" []	2041363	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	46,XY ovotesticular disorder of sex development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325345	"" []	2041364	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	46,XY ovotesticular disorder of sex development
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325345	"" []	2041365	\N	\N	EFO	4	EFO	genetic disorder	46,XY ovotesticular disorder of sex development
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:325345	"" []	2041366	\N	\N	EFO	4	EFO	reproductive system disease	46,XY ovotesticular disorder of sex development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325345	"" []	3191654	\N	\N	EFO	5	EFO	genetic disorder	46,XY ovotesticular disorder of sex development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325345	"" []	3191655	\N	\N	EFO	5	EFO	genetic disorder	46,XY ovotesticular disorder of sex development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325345	"" []	3191656	\N	\N	EFO	5	EFO	endocrine system disease	46,XY ovotesticular disorder of sex development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325345	"" []	3191657	\N	\N	EFO	5	EFO	genetic disorder	46,XY ovotesticular disorder of sex development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325345	"" []	4398283	\N	\N	EFO	6	EFO	disease	46,XY ovotesticular disorder of sex development
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325345	"" []	3191659	\N	\N	EFO	5	EFO	disease	46,XY ovotesticular disorder of sex development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325345	"" []	4398284	\N	\N	EFO	6	EFO	disease	46,XY ovotesticular disorder of sex development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325345	"" []	5182687	\N	\N	EFO	7	EFO	disposition	46,XY ovotesticular disorder of sex development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325345	"" []	5998064	\N	\N	EFO	8	EFO	material property	46,XY ovotesticular disorder of sex development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325345	"" []	6551356	\N	\N	EFO	9	EFO	experimental factor	46,XY ovotesticular disorder of sex development
Orphanet:325357	\N	\N	"" []	Orphanet:325357	"" []	76640	\N	\N	EFO	0	EFO	46,XY disorder of sex development due to impaired androgen production	46,XY disorder of sex development due to impaired androgen production
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:325357	"" []	219735	\N	\N	EFO	1	EFO	Genetic 46,XY disorder of sex development of endocrine origin	46,XY disorder of sex development due to impaired androgen production
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:325357	"" []	575224	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	46,XY disorder of sex development due to impaired androgen production
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:325357	"" []	1158164	\N	\N	EFO	3	EFO	Genetic disorder of sex development	46,XY disorder of sex development due to impaired androgen production
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325357	"" []	2041367	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	46,XY disorder of sex development due to impaired androgen production
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325357	"" []	2041368	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	46,XY disorder of sex development due to impaired androgen production
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325357	"" []	2041369	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	46,XY disorder of sex development due to impaired androgen production
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325357	"" []	3191660	\N	\N	EFO	5	EFO	genetic disorder	46,XY disorder of sex development due to impaired androgen production
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325357	"" []	3191661	\N	\N	EFO	5	EFO	genetic disorder	46,XY disorder of sex development due to impaired androgen production
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325357	"" []	3191662	\N	\N	EFO	5	EFO	endocrine system disease	46,XY disorder of sex development due to impaired androgen production
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325357	"" []	3191663	\N	\N	EFO	5	EFO	genetic disorder	46,XY disorder of sex development due to impaired androgen production
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325357	"" []	4398286	\N	\N	EFO	6	EFO	disease	46,XY disorder of sex development due to impaired androgen production
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325357	"" []	4398287	\N	\N	EFO	6	EFO	disease	46,XY disorder of sex development due to impaired androgen production
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325357	"" []	5415579	\N	\N	EFO	7	EFO	disposition	46,XY disorder of sex development due to impaired androgen production
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325357	"" []	6151445	\N	\N	EFO	8	EFO	material property	46,XY disorder of sex development due to impaired androgen production
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325357	"" []	6633654	\N	\N	EFO	9	EFO	experimental factor	46,XY disorder of sex development due to impaired androgen production
Orphanet:325448	\N	\N	"" []	Orphanet:325448	"" []	76641	\N	\N	EFO	0	EFO	Leydig cell hypoplasia due to LHB deficiency	Leydig cell hypoplasia due to LHB deficiency
Orphanet:755	Orphanet:325448	\N	"" []	Orphanet:325448	"" []	219736	\N	\N	EFO	1	EFO	Leydig cell hypoplasia	Leydig cell hypoplasia due to LHB deficiency
Orphanet:325357	Orphanet:755	\N	"" []	Orphanet:325448	"" []	575225	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to impaired androgen production	Leydig cell hypoplasia due to LHB deficiency
Orphanet:399685	Orphanet:755	\N	"" []	Orphanet:325448	"" []	575226	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Leydig cell hypoplasia due to LHB deficiency
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:325448	"" []	1158165	\N	\N	EFO	3	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Leydig cell hypoplasia due to LHB deficiency
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:325448	"" []	1158166	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Leydig cell hypoplasia due to LHB deficiency
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:325448	"" []	2041370	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development	Leydig cell hypoplasia due to LHB deficiency
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:325448	"" []	2041371	\N	\N	EFO	4	EFO	Rare genetic male infertility	Leydig cell hypoplasia due to LHB deficiency
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:325448	"" []	3191664	\N	\N	EFO	5	EFO	Genetic disorder of sex development	Leydig cell hypoplasia due to LHB deficiency
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:325448	"" []	3191665	\N	\N	EFO	5	EFO	Genetic infertility	Leydig cell hypoplasia due to LHB deficiency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325448	"" []	4398288	\N	\N	EFO	6	EFO	Rare genetic urogenital disease	Leydig cell hypoplasia due to LHB deficiency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325448	"" []	4398289	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Leydig cell hypoplasia due to LHB deficiency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325448	"" []	4398290	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Leydig cell hypoplasia due to LHB deficiency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325448	"" []	4398291	\N	\N	EFO	6	EFO	genetic disorder	Leydig cell hypoplasia due to LHB deficiency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:325448	"" []	4398292	\N	\N	EFO	6	EFO	reproductive system disease	Leydig cell hypoplasia due to LHB deficiency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325448	"" []	5415580	\N	\N	EFO	7	EFO	genetic disorder	Leydig cell hypoplasia due to LHB deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325448	"" []	5415581	\N	\N	EFO	7	EFO	genetic disorder	Leydig cell hypoplasia due to LHB deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325448	"" []	5415582	\N	\N	EFO	7	EFO	endocrine system disease	Leydig cell hypoplasia due to LHB deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325448	"" []	5415583	\N	\N	EFO	7	EFO	genetic disorder	Leydig cell hypoplasia due to LHB deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325448	"" []	6151446	\N	\N	EFO	8	EFO	disease	Leydig cell hypoplasia due to LHB deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325448	"" []	5415585	\N	\N	EFO	7	EFO	disease	Leydig cell hypoplasia due to LHB deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325448	"" []	6151447	\N	\N	EFO	8	EFO	disease	Leydig cell hypoplasia due to LHB deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325448	"" []	6551357	\N	\N	EFO	9	EFO	disposition	Leydig cell hypoplasia due to LHB deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325448	"" []	6889409	\N	\N	EFO	10	EFO	material property	Leydig cell hypoplasia due to LHB deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325448	"" []	7086047	\N	\N	EFO	11	EFO	experimental factor	Leydig cell hypoplasia due to LHB deficiency
Orphanet:3255	\N	\N	"" []	Orphanet:3255	"" []	76642	\N	\N	EFO	0	EFO	Filippi syndrome	Filippi syndrome
Orphanet:102283	Orphanet:3255	\N	"" []	Orphanet:3255	"" []	219737	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Filippi syndrome
Orphanet:183763	Orphanet:3255	\N	"" []	Orphanet:3255	"" []	219738	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Filippi syndrome
Orphanet:294959	Orphanet:3255	\N	"" []	Orphanet:3255	"" []	219739	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Filippi syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3255	"" []	575227	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Filippi syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3255	"" []	575228	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Filippi syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:3255	"" []	575229	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Filippi syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:3255	"" []	575230	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Filippi syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3255	"" []	1158167	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Filippi syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3255	"" []	1158168	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Filippi syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3255	"" []	1158169	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Filippi syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3255	"" []	1158170	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Filippi syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3255	"" []	4398295	\N	\N	EFO	6	EFO	genetic disorder	Filippi syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3255	"" []	2041373	\N	\N	EFO	4	EFO	genetic disorder	Filippi syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3255	"" []	2041374	\N	\N	EFO	4	EFO	Rare genetic bone disease	Filippi syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3255	"" []	2041375	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Filippi syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3255	"" []	2041376	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Filippi syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3255	"" []	5059998	\N	\N	EFO	7	EFO	disease	Filippi syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3255	"" []	3191667	\N	\N	EFO	5	EFO	genetic disorder	Filippi syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3255	"" []	3191668	\N	\N	EFO	5	EFO	bone disease	Filippi syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3255	"" []	3191669	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Filippi syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3255	"" []	5877361	\N	\N	EFO	8	EFO	disposition	Filippi syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3255	"" []	4398294	\N	\N	EFO	6	EFO	skeletal system disease	Filippi syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3255	"" []	6470598	\N	\N	EFO	9	EFO	material property	Filippi syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3255	"" []	5415587	\N	\N	EFO	7	EFO	disease	Filippi syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3255	"" []	6848617	\N	\N	EFO	10	EFO	experimental factor	Filippi syndrome
Orphanet:325511	\N	\N	"" []	Orphanet:325511	"" []	76643	\N	\N	EFO	0	EFO	46,XY disorder of sex development due to cholesterol synthesis defect	46,XY disorder of sex development due to cholesterol synthesis defect
Orphanet:90783	Orphanet:325511	\N	"" []	Orphanet:325511	"" []	219740	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to testosterone synthesis defect	46,XY disorder of sex development due to cholesterol synthesis defect
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:325511	"" []	575231	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to impaired androgen production	46,XY disorder of sex development due to cholesterol synthesis defect
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:325511	"" []	1158171	\N	\N	EFO	3	EFO	Genetic 46,XY disorder of sex development of endocrine origin	46,XY disorder of sex development due to cholesterol synthesis defect
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:325511	"" []	2041377	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development	46,XY disorder of sex development due to cholesterol synthesis defect
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:325511	"" []	3191671	\N	\N	EFO	5	EFO	Genetic disorder of sex development	46,XY disorder of sex development due to cholesterol synthesis defect
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325511	"" []	4398296	\N	\N	EFO	6	EFO	Rare genetic urogenital disease	46,XY disorder of sex development due to cholesterol synthesis defect
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325511	"" []	4398297	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	46,XY disorder of sex development due to cholesterol synthesis defect
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325511	"" []	4398298	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	46,XY disorder of sex development due to cholesterol synthesis defect
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325511	"" []	5415588	\N	\N	EFO	7	EFO	genetic disorder	46,XY disorder of sex development due to cholesterol synthesis defect
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325511	"" []	5415589	\N	\N	EFO	7	EFO	genetic disorder	46,XY disorder of sex development due to cholesterol synthesis defect
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325511	"" []	5415590	\N	\N	EFO	7	EFO	endocrine system disease	46,XY disorder of sex development due to cholesterol synthesis defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325511	"" []	5415591	\N	\N	EFO	7	EFO	genetic disorder	46,XY disorder of sex development due to cholesterol synthesis defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325511	"" []	6151450	\N	\N	EFO	8	EFO	disease	46,XY disorder of sex development due to cholesterol synthesis defect
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325511	"" []	6151451	\N	\N	EFO	8	EFO	disease	46,XY disorder of sex development due to cholesterol synthesis defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325511	"" []	6633656	\N	\N	EFO	9	EFO	disposition	46,XY disorder of sex development due to cholesterol synthesis defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325511	"" []	6926087	\N	\N	EFO	10	EFO	material property	46,XY disorder of sex development due to cholesterol synthesis defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325511	"" []	7099266	\N	\N	EFO	11	EFO	experimental factor	46,XY disorder of sex development due to cholesterol synthesis defect
Orphanet:325524	\N	\N	"" []	Orphanet:325524	"" []	76644	\N	\N	EFO	0	EFO	Classic congenital lipoid adrenal hyperplasia due to STAR deficency	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:90790	Orphanet:325524	\N	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	Orphanet:325524	"" []	219741	\N	\N	EFO	1	EFO	Congenital lipoid adrenal hyperplasia due to STAR deficency	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:400018	Orphanet:90790	\N	"" []	Orphanet:325524	"" []	575232	\N	\N	EFO	2	EFO	Rare female infertility due to adrenal disorder of genetic origin	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:418	Orphanet:90790	\N	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	Orphanet:325524	"" []	575233	\N	\N	EFO	2	EFO	Congenital adrenal hyperplasia	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:90786	Orphanet:90790	\N	"" []	Orphanet:325524	"" []	575234	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:95710	Orphanet:90790	\N	"" []	Orphanet:325524	"" []	575235	\N	\N	EFO	2	EFO	Non-acquired premature ovarian failure	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:400011	Orphanet:400018	\N	"" []	Orphanet:325524	"" []	1158172	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:101960	Orphanet:418	\N	"" []	Orphanet:325524	"" []	1158173	\N	\N	EFO	3	EFO	Genetic chronic primary adrenal insufficiency	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:181412	Orphanet:418	\N	"" []	Orphanet:325524	"" []	1158174	\N	\N	EFO	3	EFO	Adrenogenital syndrome	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325632	Orphanet:90786	\N	"" []	Orphanet:325524	"" []	1158175	\N	\N	EFO	3	EFO	46,XY disorder of sex development of gynecological interest	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:90783	Orphanet:90786	\N	"" []	Orphanet:325524	"" []	1158176	\N	\N	EFO	3	EFO	46,XY disorder of sex development due to testosterone synthesis defect	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:325524	"" []	1158177	\N	\N	EFO	3	EFO	ovarian disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:325524	"" []	1158178	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:325524	"" []	1158179	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:325524	"" []	2041378	\N	\N	EFO	4	EFO	Rare genetic female infertility	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:325524	"" []	2041379	\N	\N	EFO	4	EFO	Rare genetic adrenal disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:325524	"" []	2041380	\N	\N	EFO	4	EFO	Rare genetic adrenal disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:325524	"" []	2041381	\N	\N	EFO	4	EFO	Genetic disorder of sex development of gynecological interest	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:325524	"" []	2041382	\N	\N	EFO	4	EFO	46,XY disorder of sex development due to impaired androgen production	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:325524	"" []	2041383	\N	\N	EFO	4	EFO	reproductive system disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325524	"" []	6633658	\N	\N	EFO	9	EFO	genetic disorder	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325524	"" []	6633659	\N	\N	EFO	9	EFO	endocrine system disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:325524	"" []	2041386	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:325524	"" []	3191672	\N	\N	EFO	5	EFO	Genetic infertility	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:325524	"" []	3191673	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:325524	"" []	3191674	\N	\N	EFO	5	EFO	Rare genetic gynecological and obstetrical diseases	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:325524	"" []	3191675	\N	\N	EFO	5	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325524	"" []	5182690	\N	\N	EFO	7	EFO	disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325524	"" []	6762383	\N	\N	EFO	10	EFO	disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325524	"" []	6762384	\N	\N	EFO	10	EFO	disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325524	"" []	4398303	\N	\N	EFO	6	EFO	genetic disorder	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:325524	"" []	4398304	\N	\N	EFO	6	EFO	reproductive system disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325524	"" []	4398299	\N	\N	EFO	6	EFO	genetic disorder	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:325524	"" []	4398300	\N	\N	EFO	6	EFO	reproductive system disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:325524	"" []	4398305	\N	\N	EFO	6	EFO	Genetic 46,XY disorder of sex development	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325524	"" []	7015696	\N	\N	EFO	11	EFO	disposition	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:325524	"" []	5415592	\N	\N	EFO	7	EFO	Genetic disorder of sex development	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325524	"" []	7173644	\N	\N	EFO	12	EFO	material property	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325524	"" []	6151452	\N	\N	EFO	8	EFO	Rare genetic urogenital disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325524	"" []	6151453	\N	\N	EFO	8	EFO	Rare genetic endocrine disease	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325524	"" []	6151454	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325524	"" []	7275685	\N	\N	EFO	13	EFO	experimental factor	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325524	"" []	6633657	\N	\N	EFO	9	EFO	genetic disorder	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325524	"" []	6633660	\N	\N	EFO	9	EFO	genetic disorder	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325529	\N	\N	"" []	Orphanet:325529	"" []	76645	\N	\N	EFO	0	EFO	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:399994	Orphanet:325529	\N	"" []	Orphanet:325529	"" []	219742	\N	\N	EFO	1	EFO	Rare male infertility due to adrenal disorder of genetic origin	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:90790	Orphanet:325529	\N	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	Orphanet:325529	"" []	219743	\N	\N	EFO	1	EFO	Congenital lipoid adrenal hyperplasia due to STAR deficency	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:399983	Orphanet:399994	\N	"" []	Orphanet:325529	"" []	575236	\N	\N	EFO	2	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:400018	Orphanet:90790	\N	"" []	Orphanet:325529	"" []	575237	\N	\N	EFO	2	EFO	Rare female infertility due to adrenal disorder of genetic origin	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:418	Orphanet:90790	\N	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	Orphanet:325529	"" []	575238	\N	\N	EFO	2	EFO	Congenital adrenal hyperplasia	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:90786	Orphanet:90790	\N	"" []	Orphanet:325529	"" []	575239	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:95710	Orphanet:90790	\N	"" []	Orphanet:325529	"" []	575240	\N	\N	EFO	2	EFO	Non-acquired premature ovarian failure	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:325529	"" []	1158180	\N	\N	EFO	3	EFO	Rare genetic male infertility	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:400011	Orphanet:400018	\N	"" []	Orphanet:325529	"" []	1158181	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:101960	Orphanet:418	\N	"" []	Orphanet:325529	"" []	1158182	\N	\N	EFO	3	EFO	Genetic chronic primary adrenal insufficiency	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:181412	Orphanet:418	\N	"" []	Orphanet:325529	"" []	1158183	\N	\N	EFO	3	EFO	Adrenogenital syndrome	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325632	Orphanet:90786	\N	"" []	Orphanet:325529	"" []	1158184	\N	\N	EFO	3	EFO	46,XY disorder of sex development of gynecological interest	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:90783	Orphanet:90786	\N	"" []	Orphanet:325529	"" []	1158185	\N	\N	EFO	3	EFO	46,XY disorder of sex development due to testosterone synthesis defect	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:325529	"" []	1158186	\N	\N	EFO	3	EFO	ovarian disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:325529	"" []	1158187	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:325529	"" []	1158188	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:325529	"" []	2041387	\N	\N	EFO	4	EFO	Genetic infertility	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:325529	"" []	2041388	\N	\N	EFO	4	EFO	Rare genetic female infertility	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:325529	"" []	2041389	\N	\N	EFO	4	EFO	Rare genetic adrenal disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:325529	"" []	2041390	\N	\N	EFO	4	EFO	Rare genetic adrenal disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:325529	"" []	2041391	\N	\N	EFO	4	EFO	Genetic disorder of sex development of gynecological interest	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:325529	"" []	2041392	\N	\N	EFO	4	EFO	46,XY disorder of sex development due to impaired androgen production	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:325529	"" []	2041393	\N	\N	EFO	4	EFO	reproductive system disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325529	"" []	6633662	\N	\N	EFO	9	EFO	genetic disorder	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325529	"" []	6633663	\N	\N	EFO	9	EFO	endocrine system disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:325529	"" []	2041396	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325529	"" []	4398311	\N	\N	EFO	6	EFO	genetic disorder	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:325529	"" []	4398312	\N	\N	EFO	6	EFO	reproductive system disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:325529	"" []	3191683	\N	\N	EFO	5	EFO	Genetic infertility	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:325529	"" []	3191684	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:325529	"" []	3191685	\N	\N	EFO	5	EFO	Rare genetic gynecological and obstetrical diseases	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:325529	"" []	3191686	\N	\N	EFO	5	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325529	"" []	5182691	\N	\N	EFO	7	EFO	disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325529	"" []	6762385	\N	\N	EFO	10	EFO	disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325529	"" []	6762386	\N	\N	EFO	10	EFO	disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325529	"" []	4398315	\N	\N	EFO	6	EFO	genetic disorder	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:325529	"" []	4398316	\N	\N	EFO	6	EFO	reproductive system disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:325529	"" []	4398317	\N	\N	EFO	6	EFO	Genetic 46,XY disorder of sex development	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325529	"" []	7015697	\N	\N	EFO	11	EFO	disposition	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:325529	"" []	5415594	\N	\N	EFO	7	EFO	Genetic disorder of sex development	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325529	"" []	7173645	\N	\N	EFO	12	EFO	material property	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325529	"" []	6151456	\N	\N	EFO	8	EFO	Rare genetic urogenital disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325529	"" []	6151457	\N	\N	EFO	8	EFO	Rare genetic endocrine disease	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325529	"" []	6151458	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325529	"" []	7275686	\N	\N	EFO	13	EFO	experimental factor	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325529	"" []	6633661	\N	\N	EFO	9	EFO	genetic disorder	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325529	"" []	6633664	\N	\N	EFO	9	EFO	genetic disorder	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325546	\N	\N	"" []	Orphanet:325546	"" []	76646	\N	\N	EFO	0	EFO	Sex chromosome disorder of sex development	Sex chromosome disorder of sex development
Orphanet:325690	Orphanet:325546	\N	"" []	Orphanet:325546	"" []	219744	\N	\N	EFO	1	EFO	Genetic disorder of sex development	Sex chromosome disorder of sex development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325546	"" []	575241	\N	\N	EFO	2	EFO	Rare genetic urogenital disease	Sex chromosome disorder of sex development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325546	"" []	575242	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Sex chromosome disorder of sex development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325546	"" []	575243	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Sex chromosome disorder of sex development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325546	"" []	1158189	\N	\N	EFO	3	EFO	genetic disorder	Sex chromosome disorder of sex development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325546	"" []	1158190	\N	\N	EFO	3	EFO	genetic disorder	Sex chromosome disorder of sex development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325546	"" []	1158191	\N	\N	EFO	3	EFO	endocrine system disease	Sex chromosome disorder of sex development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325546	"" []	1158192	\N	\N	EFO	3	EFO	genetic disorder	Sex chromosome disorder of sex development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325546	"" []	2041397	\N	\N	EFO	4	EFO	disease	Sex chromosome disorder of sex development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325546	"" []	2041398	\N	\N	EFO	4	EFO	disease	Sex chromosome disorder of sex development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325546	"" []	3191692	\N	\N	EFO	5	EFO	disposition	Sex chromosome disorder of sex development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325546	"" []	4398319	\N	\N	EFO	6	EFO	material property	Sex chromosome disorder of sex development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325546	"" []	5415596	\N	\N	EFO	7	EFO	experimental factor	Sex chromosome disorder of sex development
Orphanet:325632	\N	\N	"" []	Orphanet:325632	"" []	76647	\N	\N	EFO	0	EFO	46,XY disorder of sex development of gynecological interest	46,XY disorder of sex development of gynecological interest
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:325632	"" []	219745	\N	\N	EFO	1	EFO	Genetic disorder of sex development of gynecological interest	46,XY disorder of sex development of gynecological interest
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:325632	"" []	575244	\N	\N	EFO	2	EFO	Rare genetic gynecological and obstetrical diseases	46,XY disorder of sex development of gynecological interest
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325632	"" []	1158193	\N	\N	EFO	3	EFO	genetic disorder	46,XY disorder of sex development of gynecological interest
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:325632	"" []	1158194	\N	\N	EFO	3	EFO	reproductive system disease	46,XY disorder of sex development of gynecological interest
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325632	"" []	2041399	\N	\N	EFO	4	EFO	disease	46,XY disorder of sex development of gynecological interest
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325632	"" []	2041400	\N	\N	EFO	4	EFO	disease	46,XY disorder of sex development of gynecological interest
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325632	"" []	3191693	\N	\N	EFO	5	EFO	disposition	46,XY disorder of sex development of gynecological interest
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325632	"" []	4398320	\N	\N	EFO	6	EFO	material property	46,XY disorder of sex development of gynecological interest
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325632	"" []	5415597	\N	\N	EFO	7	EFO	experimental factor	46,XY disorder of sex development of gynecological interest
Orphanet:325638	\N	\N	"" []	Orphanet:325638	"" []	76648	\N	\N	EFO	0	EFO	Syndrome with disorder of sex development of gynecological interest	Syndrome with disorder of sex development of gynecological interest
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:325638	"" []	219746	\N	\N	EFO	1	EFO	Genetic disorder of sex development of gynecological interest	Syndrome with disorder of sex development of gynecological interest
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:325638	"" []	575245	\N	\N	EFO	2	EFO	Rare genetic gynecological and obstetrical diseases	Syndrome with disorder of sex development of gynecological interest
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325638	"" []	1158195	\N	\N	EFO	3	EFO	genetic disorder	Syndrome with disorder of sex development of gynecological interest
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:325638	"" []	1158196	\N	\N	EFO	3	EFO	reproductive system disease	Syndrome with disorder of sex development of gynecological interest
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325638	"" []	2041401	\N	\N	EFO	4	EFO	disease	Syndrome with disorder of sex development of gynecological interest
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325638	"" []	2041402	\N	\N	EFO	4	EFO	disease	Syndrome with disorder of sex development of gynecological interest
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325638	"" []	3191694	\N	\N	EFO	5	EFO	disposition	Syndrome with disorder of sex development of gynecological interest
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325638	"" []	4398321	\N	\N	EFO	6	EFO	material property	Syndrome with disorder of sex development of gynecological interest
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325638	"" []	5415598	\N	\N	EFO	7	EFO	experimental factor	Syndrome with disorder of sex development of gynecological interest
Orphanet:325665	\N	\N	"" []	Orphanet:325665	"" []	76649	\N	\N	EFO	0	EFO	Genetic disorder of sex development of gynecological interest	Genetic disorder of sex development of gynecological interest
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:325665	"" []	219747	\N	\N	EFO	1	EFO	Rare genetic gynecological and obstetrical diseases	Genetic disorder of sex development of gynecological interest
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325665	"" []	575246	\N	\N	EFO	2	EFO	genetic disorder	Genetic disorder of sex development of gynecological interest
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:325665	"" []	575247	\N	\N	EFO	2	EFO	reproductive system disease	Genetic disorder of sex development of gynecological interest
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325665	"" []	1158197	\N	\N	EFO	3	EFO	disease	Genetic disorder of sex development of gynecological interest
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325665	"" []	1158198	\N	\N	EFO	3	EFO	disease	Genetic disorder of sex development of gynecological interest
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325665	"" []	2041403	\N	\N	EFO	4	EFO	disposition	Genetic disorder of sex development of gynecological interest
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325665	"" []	3191695	\N	\N	EFO	5	EFO	material property	Genetic disorder of sex development of gynecological interest
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325665	"" []	4398322	\N	\N	EFO	6	EFO	experimental factor	Genetic disorder of sex development of gynecological interest
Orphanet:325690	\N	\N	"" []	Orphanet:325690	"" []	76650	\N	\N	EFO	0	EFO	Genetic disorder of sex development	Genetic disorder of sex development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325690	"" []	219748	\N	\N	EFO	1	EFO	Rare genetic urogenital disease	Genetic disorder of sex development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325690	"" []	219749	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Genetic disorder of sex development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325690	"" []	219750	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic disorder of sex development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325690	"" []	575248	\N	\N	EFO	2	EFO	genetic disorder	Genetic disorder of sex development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325690	"" []	575249	\N	\N	EFO	2	EFO	genetic disorder	Genetic disorder of sex development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325690	"" []	575250	\N	\N	EFO	2	EFO	endocrine system disease	Genetic disorder of sex development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325690	"" []	575251	\N	\N	EFO	2	EFO	genetic disorder	Genetic disorder of sex development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325690	"" []	1158199	\N	\N	EFO	3	EFO	disease	Genetic disorder of sex development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325690	"" []	1158200	\N	\N	EFO	3	EFO	disease	Genetic disorder of sex development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325690	"" []	2041404	\N	\N	EFO	4	EFO	disposition	Genetic disorder of sex development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325690	"" []	3191696	\N	\N	EFO	5	EFO	material property	Genetic disorder of sex development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325690	"" []	4398323	\N	\N	EFO	6	EFO	experimental factor	Genetic disorder of sex development
Orphanet:325697	\N	\N	"" []	Orphanet:325697	"" []	76651	\N	\N	EFO	0	EFO	Genetic 46,XX disorder of sex development	Genetic 46,XX disorder of sex development
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:325697	"" []	219751	\N	\N	EFO	1	EFO	Genetic disorder of sex development	Genetic 46,XX disorder of sex development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325697	"" []	575252	\N	\N	EFO	2	EFO	Rare genetic urogenital disease	Genetic 46,XX disorder of sex development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325697	"" []	575253	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Genetic 46,XX disorder of sex development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325697	"" []	575254	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Genetic 46,XX disorder of sex development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325697	"" []	1158201	\N	\N	EFO	3	EFO	genetic disorder	Genetic 46,XX disorder of sex development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325697	"" []	1158202	\N	\N	EFO	3	EFO	genetic disorder	Genetic 46,XX disorder of sex development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325697	"" []	1158203	\N	\N	EFO	3	EFO	endocrine system disease	Genetic 46,XX disorder of sex development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325697	"" []	1158204	\N	\N	EFO	3	EFO	genetic disorder	Genetic 46,XX disorder of sex development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325697	"" []	2041405	\N	\N	EFO	4	EFO	disease	Genetic 46,XX disorder of sex development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325697	"" []	2041406	\N	\N	EFO	4	EFO	disease	Genetic 46,XX disorder of sex development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325697	"" []	3191697	\N	\N	EFO	5	EFO	disposition	Genetic 46,XX disorder of sex development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325697	"" []	4398324	\N	\N	EFO	6	EFO	material property	Genetic 46,XX disorder of sex development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325697	"" []	5415599	\N	\N	EFO	7	EFO	experimental factor	Genetic 46,XX disorder of sex development
Orphanet:325706	\N	\N	"" []	Orphanet:325706	"" []	76652	\N	\N	EFO	0	EFO	Genetic 46,XY disorder of sex development	Genetic 46,XY disorder of sex development
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:325706	"" []	219752	\N	\N	EFO	1	EFO	Genetic disorder of sex development	Genetic 46,XY disorder of sex development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325706	"" []	575255	\N	\N	EFO	2	EFO	Rare genetic urogenital disease	Genetic 46,XY disorder of sex development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325706	"" []	575256	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Genetic 46,XY disorder of sex development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325706	"" []	575257	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Genetic 46,XY disorder of sex development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325706	"" []	1158205	\N	\N	EFO	3	EFO	genetic disorder	Genetic 46,XY disorder of sex development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325706	"" []	1158206	\N	\N	EFO	3	EFO	genetic disorder	Genetic 46,XY disorder of sex development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325706	"" []	1158207	\N	\N	EFO	3	EFO	endocrine system disease	Genetic 46,XY disorder of sex development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325706	"" []	1158208	\N	\N	EFO	3	EFO	genetic disorder	Genetic 46,XY disorder of sex development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325706	"" []	2041407	\N	\N	EFO	4	EFO	disease	Genetic 46,XY disorder of sex development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325706	"" []	2041408	\N	\N	EFO	4	EFO	disease	Genetic 46,XY disorder of sex development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325706	"" []	3191698	\N	\N	EFO	5	EFO	disposition	Genetic 46,XY disorder of sex development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325706	"" []	4398325	\N	\N	EFO	6	EFO	material property	Genetic 46,XY disorder of sex development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325706	"" []	5415600	\N	\N	EFO	7	EFO	experimental factor	Genetic 46,XY disorder of sex development
Orphanet:325713	\N	\N	"" []	Orphanet:325713	"" []	76653	\N	\N	EFO	0	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Genetic 46,XY disorder of sex development of endocrine origin
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:325713	"" []	219753	\N	\N	EFO	1	EFO	Genetic 46,XY disorder of sex development	Genetic 46,XY disorder of sex development of endocrine origin
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:325713	"" []	575258	\N	\N	EFO	2	EFO	Genetic disorder of sex development	Genetic 46,XY disorder of sex development of endocrine origin
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:325713	"" []	1158209	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Genetic 46,XY disorder of sex development of endocrine origin
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:325713	"" []	1158210	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Genetic 46,XY disorder of sex development of endocrine origin
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:325713	"" []	1158211	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Genetic 46,XY disorder of sex development of endocrine origin
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325713	"" []	2041409	\N	\N	EFO	4	EFO	genetic disorder	Genetic 46,XY disorder of sex development of endocrine origin
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325713	"" []	2041410	\N	\N	EFO	4	EFO	genetic disorder	Genetic 46,XY disorder of sex development of endocrine origin
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:325713	"" []	2041411	\N	\N	EFO	4	EFO	endocrine system disease	Genetic 46,XY disorder of sex development of endocrine origin
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:325713	"" []	2041412	\N	\N	EFO	4	EFO	genetic disorder	Genetic 46,XY disorder of sex development of endocrine origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325713	"" []	3191699	\N	\N	EFO	5	EFO	disease	Genetic 46,XY disorder of sex development of endocrine origin
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:325713	"" []	3191700	\N	\N	EFO	5	EFO	disease	Genetic 46,XY disorder of sex development of endocrine origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:325713	"" []	4398326	\N	\N	EFO	6	EFO	disposition	Genetic 46,XY disorder of sex development of endocrine origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:325713	"" []	5415601	\N	\N	EFO	7	EFO	material property	Genetic 46,XY disorder of sex development of endocrine origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:325713	"" []	6151460	\N	\N	EFO	8	EFO	experimental factor	Genetic 46,XY disorder of sex development of endocrine origin
Orphanet:3258	\N	\N	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	76654	\N	\N	EFO	0	EFO	Cenani-Lenz syndrome	Cenani-Lenz syndrome
Orphanet:294959	Orphanet:3258	\N	"" []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	219754	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Cenani-Lenz syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	575259	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Cenani-Lenz syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	575260	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Cenani-Lenz syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	1158212	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Cenani-Lenz syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	1158213	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Cenani-Lenz syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	2041413	\N	\N	EFO	4	EFO	Rare genetic bone disease	Cenani-Lenz syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	2041414	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Cenani-Lenz syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	2041415	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cenani-Lenz syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	3191701	\N	\N	EFO	5	EFO	genetic disorder	Cenani-Lenz syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	3191702	\N	\N	EFO	5	EFO	bone disease	Cenani-Lenz syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	3191703	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cenani-Lenz syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	4398329	\N	\N	EFO	6	EFO	genetic disorder	Cenani-Lenz syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	5182693	\N	\N	EFO	7	EFO	disease	Cenani-Lenz syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	4398328	\N	\N	EFO	6	EFO	skeletal system disease	Cenani-Lenz syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	5998068	\N	\N	EFO	8	EFO	disposition	Cenani-Lenz syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	5415603	\N	\N	EFO	7	EFO	disease	Cenani-Lenz syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	6551361	\N	\N	EFO	9	EFO	material property	Cenani-Lenz syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3258	"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." []	6889410	\N	\N	EFO	10	EFO	experimental factor	Cenani-Lenz syndrome
Orphanet:3259	\N	\N	"" []	Orphanet:3259	"" []	76655	\N	\N	EFO	0	EFO	Syndactyly-polydactyly-ear lobe syndrome	Syndactyly-polydactyly-ear lobe syndrome
Orphanet:294959	Orphanet:3259	\N	"" []	Orphanet:3259	"" []	219755	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Syndactyly-polydactyly-ear lobe syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:3259	"" []	575261	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndactyly-polydactyly-ear lobe syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:3259	"" []	575262	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Syndactyly-polydactyly-ear lobe syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3259	"" []	1158214	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Syndactyly-polydactyly-ear lobe syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3259	"" []	1158215	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Syndactyly-polydactyly-ear lobe syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3259	"" []	2041416	\N	\N	EFO	4	EFO	Rare genetic bone disease	Syndactyly-polydactyly-ear lobe syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3259	"" []	2041417	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Syndactyly-polydactyly-ear lobe syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3259	"" []	2041418	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly-polydactyly-ear lobe syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3259	"" []	3191705	\N	\N	EFO	5	EFO	genetic disorder	Syndactyly-polydactyly-ear lobe syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3259	"" []	3191706	\N	\N	EFO	5	EFO	bone disease	Syndactyly-polydactyly-ear lobe syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3259	"" []	3191707	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly-polydactyly-ear lobe syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3259	"" []	4398332	\N	\N	EFO	6	EFO	genetic disorder	Syndactyly-polydactyly-ear lobe syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3259	"" []	5182694	\N	\N	EFO	7	EFO	disease	Syndactyly-polydactyly-ear lobe syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3259	"" []	4398331	\N	\N	EFO	6	EFO	skeletal system disease	Syndactyly-polydactyly-ear lobe syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3259	"" []	5998069	\N	\N	EFO	8	EFO	disposition	Syndactyly-polydactyly-ear lobe syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3259	"" []	5415605	\N	\N	EFO	7	EFO	disease	Syndactyly-polydactyly-ear lobe syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3259	"" []	6551362	\N	\N	EFO	9	EFO	material property	Syndactyly-polydactyly-ear lobe syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3259	"" []	6889411	\N	\N	EFO	10	EFO	experimental factor	Syndactyly-polydactyly-ear lobe syndrome
Orphanet:326	\N	\N	"" []	Orphanet:326	"" []	76656	\N	\N	EFO	0	EFO	Congenital factor V deficiency	Congenital factor V deficiency
Orphanet:68334	Orphanet:326	\N	"" []	Orphanet:326	"" []	219756	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital factor V deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:326	"" []	575263	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Congenital factor V deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:326	"" []	1158216	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital factor V deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:326	"" []	2041419	\N	\N	EFO	4	EFO	genetic disorder	Congenital factor V deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:326	"" []	2041420	\N	\N	EFO	4	EFO	hematological system disease	Congenital factor V deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:326	"" []	3191709	\N	\N	EFO	5	EFO	disease	Congenital factor V deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:326	"" []	3191710	\N	\N	EFO	5	EFO	disease	Congenital factor V deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:326	"" []	4398333	\N	\N	EFO	6	EFO	disposition	Congenital factor V deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:326	"" []	5415606	\N	\N	EFO	7	EFO	material property	Congenital factor V deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:326	"" []	6151463	\N	\N	EFO	8	EFO	experimental factor	Congenital factor V deficiency
Orphanet:3261	\N	\N	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	76657	\N	\N	EFO	0	EFO	Autoimmune lymphoproliferative syndrome	Autoimmune lymphoproliferative syndrome
Orphanet:169355	Orphanet:3261	\N	"" []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	219757	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with autoimmunity	Autoimmune lymphoproliferative syndrome
Orphanet:238510	Orphanet:3261	\N	"" []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	219758	\N	\N	EFO	1	EFO	Lymphoproliferative syndrome	Autoimmune lymphoproliferative syndrome
Orphanet:169361	Orphanet:169355	\N	"" []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	575264	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Autoimmune lymphoproliferative syndrome
EFO:0005803	Orphanet:238510	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	575265	\N	\N	EFO	2	EFO	hematological system disease	Autoimmune lymphoproliferative syndrome
Orphanet:140162	Orphanet:238510	\N	"" []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	575266	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Autoimmune lymphoproliferative syndrome
Orphanet:169361	Orphanet:238510	\N	"" []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	575267	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Autoimmune lymphoproliferative syndrome
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	1158217	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Autoimmune lymphoproliferative syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	1158218	\N	\N	EFO	3	EFO	disease	Autoimmune lymphoproliferative syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	1158219	\N	\N	EFO	3	EFO	genetic disorder	Autoimmune lymphoproliferative syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	2041421	\N	\N	EFO	4	EFO	Primary immunodeficiency	Autoimmune lymphoproliferative syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	5817709	\N	\N	EFO	8	EFO	disposition	Autoimmune lymphoproliferative syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	5415607	\N	\N	EFO	7	EFO	disease	Autoimmune lymphoproliferative syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	3191711	\N	\N	EFO	5	EFO	Rare genetic immune disease	Autoimmune lymphoproliferative syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	6378928	\N	\N	EFO	9	EFO	material property	Autoimmune lymphoproliferative syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	4398334	\N	\N	EFO	6	EFO	genetic disorder	Autoimmune lymphoproliferative syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	4398335	\N	\N	EFO	6	EFO	immune system disease	Autoimmune lymphoproliferative syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	6778745	\N	\N	EFO	10	EFO	experimental factor	Autoimmune lymphoproliferative syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3261	"Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." []	5415608	\N	\N	EFO	7	EFO	disease	Autoimmune lymphoproliferative syndrome
Orphanet:3262	\N	\N	"" []	Orphanet:3262	"" []	76658	\N	\N	EFO	0	EFO	Syngnathia multiple anomalies	Syngnathia multiple anomalies
Orphanet:93453	Orphanet:3262	\N	"" []	Orphanet:3262	"" []	219759	\N	\N	EFO	1	EFO	Dysostosis with predominant craniofacial involvement	Syngnathia multiple anomalies
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:3262	"" []	575268	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Syngnathia multiple anomalies
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3262	"" []	1158220	\N	\N	EFO	3	EFO	Rare genetic bone disease	Syngnathia multiple anomalies
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3262	"" []	1158221	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Syngnathia multiple anomalies
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3262	"" []	2041424	\N	\N	EFO	4	EFO	genetic disorder	Syngnathia multiple anomalies
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3262	"" []	2041425	\N	\N	EFO	4	EFO	bone disease	Syngnathia multiple anomalies
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3262	"" []	2041426	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Syngnathia multiple anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3262	"" []	4398339	\N	\N	EFO	6	EFO	disease	Syngnathia multiple anomalies
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3262	"" []	3191715	\N	\N	EFO	5	EFO	skeletal system disease	Syngnathia multiple anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3262	"" []	3191716	\N	\N	EFO	5	EFO	genetic disorder	Syngnathia multiple anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3262	"" []	5182696	\N	\N	EFO	7	EFO	disposition	Syngnathia multiple anomalies
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3262	"" []	4398338	\N	\N	EFO	6	EFO	disease	Syngnathia multiple anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3262	"" []	5998070	\N	\N	EFO	8	EFO	material property	Syngnathia multiple anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3262	"" []	6551363	\N	\N	EFO	9	EFO	experimental factor	Syngnathia multiple anomalies
Orphanet:3263	\N	\N	"" []	Orphanet:3263	"" []	76659	\N	\N	EFO	0	EFO	Syngnathia - cleft palate	Syngnathia - cleft palate
Orphanet:139039	Orphanet:3263	\N	"" []	Orphanet:3263	"" []	219760	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Syngnathia - cleft palate
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3263	"" []	575269	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Syngnathia - cleft palate
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3263	"" []	1158222	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Syngnathia - cleft palate
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3263	"" []	2041427	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Syngnathia - cleft palate
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3263	"" []	3191717	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syngnathia - cleft palate
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3263	"" []	4398340	\N	\N	EFO	6	EFO	genetic disorder	Syngnathia - cleft palate
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3263	"" []	5415610	\N	\N	EFO	7	EFO	disease	Syngnathia - cleft palate
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3263	"" []	6151465	\N	\N	EFO	8	EFO	disposition	Syngnathia - cleft palate
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3263	"" []	6633667	\N	\N	EFO	9	EFO	material property	Syngnathia - cleft palate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3263	"" []	6926088	\N	\N	EFO	10	EFO	experimental factor	Syngnathia - cleft palate
Orphanet:3265	\N	\N	"" []	Orphanet:3265	"" []	76660	\N	\N	EFO	0	EFO	Humero-radial synostosis	Humero-radial synostosis
Orphanet:294949	Orphanet:3265	\N	"" []	Orphanet:3265	"" []	219761	\N	\N	EFO	1	EFO	Joint formation defects	Humero-radial synostosis
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:3265	"" []	575270	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Humero-radial synostosis
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:3265	"" []	575271	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humero-radial synostosis
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:3265	"" []	1158223	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Humero-radial synostosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3265	"" []	1158224	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Humero-radial synostosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3265	"" []	2041428	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Humero-radial synostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3265	"" []	2041429	\N	\N	EFO	4	EFO	Rare genetic bone disease	Humero-radial synostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3265	"" []	2041430	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Humero-radial synostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3265	"" []	4398343	\N	\N	EFO	6	EFO	genetic disorder	Humero-radial synostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3265	"" []	3191719	\N	\N	EFO	5	EFO	genetic disorder	Humero-radial synostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3265	"" []	3191720	\N	\N	EFO	5	EFO	bone disease	Humero-radial synostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3265	"" []	3191721	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humero-radial synostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3265	"" []	5182697	\N	\N	EFO	7	EFO	disease	Humero-radial synostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3265	"" []	4398342	\N	\N	EFO	6	EFO	skeletal system disease	Humero-radial synostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3265	"" []	5998071	\N	\N	EFO	8	EFO	disposition	Humero-radial synostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3265	"" []	5415612	\N	\N	EFO	7	EFO	disease	Humero-radial synostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3265	"" []	6551364	\N	\N	EFO	9	EFO	material property	Humero-radial synostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3265	"" []	6889412	\N	\N	EFO	10	EFO	experimental factor	Humero-radial synostosis
Orphanet:3266	\N	\N	"" []	Orphanet:3266	"" []	76661	\N	\N	EFO	0	EFO	Humero-radio-ulnar synostosis	Humero-radio-ulnar synostosis
Orphanet:294949	Orphanet:3266	\N	"" []	Orphanet:3266	"" []	219762	\N	\N	EFO	1	EFO	Joint formation defects	Humero-radio-ulnar synostosis
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:3266	"" []	575272	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Humero-radio-ulnar synostosis
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:3266	"" []	575273	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humero-radio-ulnar synostosis
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:3266	"" []	1158225	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Humero-radio-ulnar synostosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3266	"" []	1158226	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Humero-radio-ulnar synostosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3266	"" []	2041431	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Humero-radio-ulnar synostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3266	"" []	2041432	\N	\N	EFO	4	EFO	Rare genetic bone disease	Humero-radio-ulnar synostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3266	"" []	2041433	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Humero-radio-ulnar synostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3266	"" []	4398346	\N	\N	EFO	6	EFO	genetic disorder	Humero-radio-ulnar synostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3266	"" []	3191723	\N	\N	EFO	5	EFO	genetic disorder	Humero-radio-ulnar synostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3266	"" []	3191724	\N	\N	EFO	5	EFO	bone disease	Humero-radio-ulnar synostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3266	"" []	3191725	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humero-radio-ulnar synostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3266	"" []	5182698	\N	\N	EFO	7	EFO	disease	Humero-radio-ulnar synostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3266	"" []	4398345	\N	\N	EFO	6	EFO	skeletal system disease	Humero-radio-ulnar synostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3266	"" []	5998072	\N	\N	EFO	8	EFO	disposition	Humero-radio-ulnar synostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3266	"" []	5415614	\N	\N	EFO	7	EFO	disease	Humero-radio-ulnar synostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3266	"" []	6551365	\N	\N	EFO	9	EFO	material property	Humero-radio-ulnar synostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3266	"" []	6889413	\N	\N	EFO	10	EFO	experimental factor	Humero-radio-ulnar synostosis
Orphanet:3267	\N	\N	"" []	Orphanet:3267	"" []	76662	\N	\N	EFO	0	EFO	Familial lambdoid synostosis	Familial lambdoid synostosis
Orphanet:139390	Orphanet:3267	\N	"" []	Orphanet:3267	"" []	219763	\N	\N	EFO	1	EFO	Isolated craniosynostosis	Familial lambdoid synostosis
Orphanet:1531	Orphanet:139390	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:3267	"" []	575274	\N	\N	EFO	2	EFO	Craniosynostosis	Familial lambdoid synostosis
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:3267	"" []	1158227	\N	\N	EFO	3	EFO	Genetic cranial malformation	Familial lambdoid synostosis
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:3267	"" []	1158228	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Familial lambdoid synostosis
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:3267	"" []	2041434	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial lambdoid synostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3267	"" []	2041435	\N	\N	EFO	4	EFO	Rare genetic bone disease	Familial lambdoid synostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3267	"" []	2041436	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Familial lambdoid synostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3267	"" []	4398349	\N	\N	EFO	6	EFO	genetic disorder	Familial lambdoid synostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3267	"" []	3191727	\N	\N	EFO	5	EFO	genetic disorder	Familial lambdoid synostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3267	"" []	3191728	\N	\N	EFO	5	EFO	bone disease	Familial lambdoid synostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3267	"" []	3191729	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Familial lambdoid synostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3267	"" []	5182699	\N	\N	EFO	7	EFO	disease	Familial lambdoid synostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3267	"" []	4398348	\N	\N	EFO	6	EFO	skeletal system disease	Familial lambdoid synostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3267	"" []	5998073	\N	\N	EFO	8	EFO	disposition	Familial lambdoid synostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3267	"" []	5415616	\N	\N	EFO	7	EFO	disease	Familial lambdoid synostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3267	"" []	6551366	\N	\N	EFO	9	EFO	material property	Familial lambdoid synostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3267	"" []	6889414	\N	\N	EFO	10	EFO	experimental factor	Familial lambdoid synostosis
Orphanet:3268	\N	\N	"" []	Orphanet:3268	"" []	76663	\N	\N	EFO	0	EFO	Synostosis - microcephaly - scoliosis	Synostosis - microcephaly - scoliosis
Orphanet:93459	Orphanet:3268	\N	"" []	Orphanet:3268	"" []	219764	\N	\N	EFO	1	EFO	Syndrome with synostosis or other joint formation defect	Synostosis - microcephaly - scoliosis
Orphanet:404571	Orphanet:93459	\N	"" []	Orphanet:3268	"" []	575275	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Synostosis - microcephaly - scoliosis
Orphanet:404577	Orphanet:93459	\N	"" []	Orphanet:3268	"" []	575276	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Synostosis - microcephaly - scoliosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3268	"" []	1158229	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Synostosis - microcephaly - scoliosis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3268	"" []	1158230	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Synostosis - microcephaly - scoliosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3268	"" []	2041437	\N	\N	EFO	4	EFO	Rare genetic bone disease	Synostosis - microcephaly - scoliosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3268	"" []	2041438	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Synostosis - microcephaly - scoliosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3268	"" []	2041439	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Synostosis - microcephaly - scoliosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3268	"" []	3191730	\N	\N	EFO	5	EFO	genetic disorder	Synostosis - microcephaly - scoliosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3268	"" []	3191731	\N	\N	EFO	5	EFO	bone disease	Synostosis - microcephaly - scoliosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3268	"" []	3191732	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Synostosis - microcephaly - scoliosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3268	"" []	4398352	\N	\N	EFO	6	EFO	genetic disorder	Synostosis - microcephaly - scoliosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3268	"" []	5182700	\N	\N	EFO	7	EFO	disease	Synostosis - microcephaly - scoliosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3268	"" []	4398351	\N	\N	EFO	6	EFO	skeletal system disease	Synostosis - microcephaly - scoliosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3268	"" []	5998074	\N	\N	EFO	8	EFO	disposition	Synostosis - microcephaly - scoliosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3268	"" []	5415618	\N	\N	EFO	7	EFO	disease	Synostosis - microcephaly - scoliosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3268	"" []	6551367	\N	\N	EFO	9	EFO	material property	Synostosis - microcephaly - scoliosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3268	"" []	6889415	\N	\N	EFO	10	EFO	experimental factor	Synostosis - microcephaly - scoliosis
Orphanet:3269	\N	\N	"" []	Orphanet:3269	"" []	76664	\N	\N	EFO	0	EFO	Radio-ulnar synostosis	Radio-ulnar synostosis
Orphanet:294949	Orphanet:3269	\N	"" []	Orphanet:3269	"" []	219765	\N	\N	EFO	1	EFO	Joint formation defects	Radio-ulnar synostosis
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:3269	"" []	575277	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Radio-ulnar synostosis
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:3269	"" []	575278	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Radio-ulnar synostosis
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:3269	"" []	1158231	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Radio-ulnar synostosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3269	"" []	1158232	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Radio-ulnar synostosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3269	"" []	2041440	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Radio-ulnar synostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3269	"" []	2041441	\N	\N	EFO	4	EFO	Rare genetic bone disease	Radio-ulnar synostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3269	"" []	2041442	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Radio-ulnar synostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3269	"" []	4398355	\N	\N	EFO	6	EFO	genetic disorder	Radio-ulnar synostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3269	"" []	3191735	\N	\N	EFO	5	EFO	genetic disorder	Radio-ulnar synostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3269	"" []	3191736	\N	\N	EFO	5	EFO	bone disease	Radio-ulnar synostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3269	"" []	3191737	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Radio-ulnar synostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3269	"" []	5182701	\N	\N	EFO	7	EFO	disease	Radio-ulnar synostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3269	"" []	4398354	\N	\N	EFO	6	EFO	skeletal system disease	Radio-ulnar synostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3269	"" []	5998075	\N	\N	EFO	8	EFO	disposition	Radio-ulnar synostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3269	"" []	5415620	\N	\N	EFO	7	EFO	disease	Radio-ulnar synostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3269	"" []	6551368	\N	\N	EFO	9	EFO	material property	Radio-ulnar synostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3269	"" []	6889416	\N	\N	EFO	10	EFO	experimental factor	Radio-ulnar synostosis
Orphanet:327	\N	\N	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	Orphanet:327	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	76665	\N	\N	EFO	0	EFO	Congenital factor VII deficiency	Congenital factor VII deficiency
Orphanet:169826	Orphanet:327	\N	"" []	Orphanet:327	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	219766	\N	\N	EFO	1	EFO	Congenital vitamin K-dependent coagulation factors deficiency	Congenital factor VII deficiency
Orphanet:68334	Orphanet:169826	\N	"" []	Orphanet:327	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	575279	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital factor VII deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:327	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	1158233	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Congenital factor VII deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:327	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	2041443	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Congenital factor VII deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:327	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	3191738	\N	\N	EFO	5	EFO	genetic disorder	Congenital factor VII deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:327	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	3191739	\N	\N	EFO	5	EFO	hematological system disease	Congenital factor VII deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:327	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	4398356	\N	\N	EFO	6	EFO	disease	Congenital factor VII deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:327	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	4398357	\N	\N	EFO	6	EFO	disease	Congenital factor VII deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:327	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	5415621	\N	\N	EFO	7	EFO	disposition	Congenital factor VII deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:327	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	6151471	\N	\N	EFO	8	EFO	material property	Congenital factor VII deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:327	"Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." []	6633673	\N	\N	EFO	9	EFO	experimental factor	Congenital factor VII deficiency
Orphanet:3270	\N	\N	"" []	Orphanet:3270	"" []	76666	\N	\N	EFO	0	EFO	Radio-ulnar synostosis - intellectual disability - hypotonia	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:102283	Orphanet:3270	\N	"" []	Orphanet:3270	"" []	219767	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:183763	Orphanet:3270	\N	"" []	Orphanet:3270	"" []	219768	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:93459	Orphanet:3270	\N	"" []	Orphanet:3270	"" []	219769	\N	\N	EFO	1	EFO	Syndrome with synostosis or other joint formation defect	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3270	"" []	575280	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3270	"" []	575281	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:404571	Orphanet:93459	\N	"" []	Orphanet:3270	"" []	575282	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:404577	Orphanet:93459	\N	"" []	Orphanet:3270	"" []	575283	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3270	"" []	1158234	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3270	"" []	1158235	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3270	"" []	1158236	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3270	"" []	1158237	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Radio-ulnar synostosis - intellectual disability - hypotonia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3270	"" []	4398360	\N	\N	EFO	6	EFO	genetic disorder	Radio-ulnar synostosis - intellectual disability - hypotonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3270	"" []	2041445	\N	\N	EFO	4	EFO	genetic disorder	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3270	"" []	2041446	\N	\N	EFO	4	EFO	Rare genetic bone disease	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3270	"" []	2041447	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3270	"" []	2041448	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Radio-ulnar synostosis - intellectual disability - hypotonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3270	"" []	5060003	\N	\N	EFO	7	EFO	disease	Radio-ulnar synostosis - intellectual disability - hypotonia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3270	"" []	3191741	\N	\N	EFO	5	EFO	genetic disorder	Radio-ulnar synostosis - intellectual disability - hypotonia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3270	"" []	3191742	\N	\N	EFO	5	EFO	bone disease	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3270	"" []	3191743	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Radio-ulnar synostosis - intellectual disability - hypotonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3270	"" []	5877364	\N	\N	EFO	8	EFO	disposition	Radio-ulnar synostosis - intellectual disability - hypotonia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3270	"" []	4398359	\N	\N	EFO	6	EFO	skeletal system disease	Radio-ulnar synostosis - intellectual disability - hypotonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3270	"" []	6470601	\N	\N	EFO	9	EFO	material property	Radio-ulnar synostosis - intellectual disability - hypotonia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3270	"" []	5415623	\N	\N	EFO	7	EFO	disease	Radio-ulnar synostosis - intellectual disability - hypotonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3270	"" []	6848620	\N	\N	EFO	10	EFO	experimental factor	Radio-ulnar synostosis - intellectual disability - hypotonia
Orphanet:3275	\N	\N	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	76667	\N	\N	EFO	0	EFO	Spondylocarpotarsal synostosis	Spondylocarpotarsal synostosis
Orphanet:93425	Orphanet:3275	\N	"" []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	219770	\N	\N	EFO	1	EFO	Filamin-related bone disorder	Spondylocarpotarsal synostosis
Orphanet:93434	Orphanet:3275	\N	"" []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	219771	\N	\N	EFO	1	EFO	Spondylodysplastic dysplasia	Spondylocarpotarsal synostosis
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	575284	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Spondylocarpotarsal synostosis
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	575285	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylocarpotarsal synostosis
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	1158238	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylocarpotarsal synostosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	1158239	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylocarpotarsal synostosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	1158240	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylocarpotarsal synostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	2041449	\N	\N	EFO	4	EFO	genetic disorder	Spondylocarpotarsal synostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	2041450	\N	\N	EFO	4	EFO	bone disease	Spondylocarpotarsal synostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	2041451	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylocarpotarsal synostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	4398363	\N	\N	EFO	6	EFO	disease	Spondylocarpotarsal synostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	3191746	\N	\N	EFO	5	EFO	skeletal system disease	Spondylocarpotarsal synostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	3191747	\N	\N	EFO	5	EFO	genetic disorder	Spondylocarpotarsal synostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	5182703	\N	\N	EFO	7	EFO	disposition	Spondylocarpotarsal synostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	4398362	\N	\N	EFO	6	EFO	disease	Spondylocarpotarsal synostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	5998077	\N	\N	EFO	8	EFO	material property	Spondylocarpotarsal synostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3275	"Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." []	6551370	\N	\N	EFO	9	EFO	experimental factor	Spondylocarpotarsal synostosis
Orphanet:328	\N	\N	"" []	Orphanet:328	"" []	76668	\N	\N	EFO	0	EFO	Congenital factor X deficiency	Congenital factor X deficiency
Orphanet:169826	Orphanet:328	\N	"" []	Orphanet:328	"" []	219772	\N	\N	EFO	1	EFO	Congenital vitamin K-dependent coagulation factors deficiency	Congenital factor X deficiency
Orphanet:68334	Orphanet:169826	\N	"" []	Orphanet:328	"" []	575286	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital factor X deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:328	"" []	1158241	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Congenital factor X deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:328	"" []	2041452	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Congenital factor X deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:328	"" []	3191748	\N	\N	EFO	5	EFO	genetic disorder	Congenital factor X deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:328	"" []	3191749	\N	\N	EFO	5	EFO	hematological system disease	Congenital factor X deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:328	"" []	4398364	\N	\N	EFO	6	EFO	disease	Congenital factor X deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:328	"" []	4398365	\N	\N	EFO	6	EFO	disease	Congenital factor X deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:328	"" []	5415625	\N	\N	EFO	7	EFO	disposition	Congenital factor X deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:328	"" []	6151474	\N	\N	EFO	8	EFO	material property	Congenital factor X deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:328	"" []	6633674	\N	\N	EFO	9	EFO	experimental factor	Congenital factor X deficiency
Orphanet:3283	\N	\N	"" []	Orphanet:3283	"" []	76669	\N	\N	EFO	0	EFO	His bundle tachycardia	His bundle tachycardia
Orphanet:101934	Orphanet:3283	\N	"" []	Orphanet:3283	"" []	219773	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	His bundle tachycardia
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:3283	"" []	575287	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	His bundle tachycardia
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3283	"" []	1158242	\N	\N	EFO	3	EFO	genetic disorder	His bundle tachycardia
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:3283	"" []	1158243	\N	\N	EFO	3	EFO	heart disease	His bundle tachycardia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3283	"" []	2041453	\N	\N	EFO	4	EFO	disease	His bundle tachycardia
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:3283	"" []	2041454	\N	\N	EFO	4	EFO	cardiovascular disease	His bundle tachycardia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3283	"" []	4398367	\N	\N	EFO	6	EFO	disposition	His bundle tachycardia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3283	"" []	3191751	\N	\N	EFO	5	EFO	disease	His bundle tachycardia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3283	"" []	5182704	\N	\N	EFO	7	EFO	material property	His bundle tachycardia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3283	"" []	5998078	\N	\N	EFO	8	EFO	experimental factor	His bundle tachycardia
Orphanet:3286	\N	\N	"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." []	Orphanet:3286	"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." []	76670	\N	\N	EFO	0	EFO	Catecholaminergic polymorphic ventricular tachycardia	Catecholaminergic polymorphic ventricular tachycardia
Orphanet:101934	Orphanet:3286	\N	"" []	Orphanet:3286	"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." []	219774	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Catecholaminergic polymorphic ventricular tachycardia
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:3286	"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." []	575288	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Catecholaminergic polymorphic ventricular tachycardia
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3286	"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." []	1158244	\N	\N	EFO	3	EFO	genetic disorder	Catecholaminergic polymorphic ventricular tachycardia
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:3286	"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." []	1158245	\N	\N	EFO	3	EFO	heart disease	Catecholaminergic polymorphic ventricular tachycardia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3286	"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." []	2041455	\N	\N	EFO	4	EFO	disease	Catecholaminergic polymorphic ventricular tachycardia
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:3286	"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." []	2041456	\N	\N	EFO	4	EFO	cardiovascular disease	Catecholaminergic polymorphic ventricular tachycardia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3286	"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." []	4398369	\N	\N	EFO	6	EFO	disposition	Catecholaminergic polymorphic ventricular tachycardia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3286	"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." []	3191753	\N	\N	EFO	5	EFO	disease	Catecholaminergic polymorphic ventricular tachycardia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3286	"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." []	5182705	\N	\N	EFO	7	EFO	material property	Catecholaminergic polymorphic ventricular tachycardia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3286	"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." []	5998079	\N	\N	EFO	8	EFO	experimental factor	Catecholaminergic polymorphic ventricular tachycardia
Orphanet:3289	\N	\N	"Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms)." []	Orphanet:3289	"Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms)." []	76671	\N	\N	EFO	0	EFO	Taurodontism	Taurodontism
Orphanet:164001	Orphanet:3289	\N	"" []	Orphanet:3289	"Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms)." []	219775	\N	\N	EFO	1	EFO	Rare odontal or periodontal disorder	Taurodontism
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:3289	"Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms)." []	575289	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Taurodontism
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3289	"Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms)." []	1158246	\N	\N	EFO	3	EFO	genetic disorder	Taurodontism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3289	"Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms)." []	2041457	\N	\N	EFO	4	EFO	disease	Taurodontism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3289	"Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms)." []	3191754	\N	\N	EFO	5	EFO	disposition	Taurodontism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3289	"Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms)." []	4398370	\N	\N	EFO	6	EFO	material property	Taurodontism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3289	"Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms)." []	5415628	\N	\N	EFO	7	EFO	experimental factor	Taurodontism
Orphanet:329	\N	\N	"" []	Orphanet:329	"" []	76672	\N	\N	EFO	0	EFO	Congenital factor XI deficiency	Congenital factor XI deficiency
Orphanet:68334	Orphanet:329	\N	"" []	Orphanet:329	"" []	219776	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital factor XI deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:329	"" []	575290	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Congenital factor XI deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:329	"" []	1158247	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital factor XI deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329	"" []	2041458	\N	\N	EFO	4	EFO	genetic disorder	Congenital factor XI deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:329	"" []	2041459	\N	\N	EFO	4	EFO	hematological system disease	Congenital factor XI deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329	"" []	3191755	\N	\N	EFO	5	EFO	disease	Congenital factor XI deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329	"" []	3191756	\N	\N	EFO	5	EFO	disease	Congenital factor XI deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329	"" []	4398371	\N	\N	EFO	6	EFO	disposition	Congenital factor XI deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329	"" []	5415629	\N	\N	EFO	7	EFO	material property	Congenital factor XI deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329	"" []	6151475	\N	\N	EFO	8	EFO	experimental factor	Congenital factor XI deficiency
Orphanet:3291	\N	\N	"" []	Orphanet:3291	"" []	76673	\N	\N	EFO	0	EFO	Teebi-Shaltout syndrome	Teebi-Shaltout syndrome
Orphanet:79373	Orphanet:3291	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3291	"" []	219777	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Teebi-Shaltout syndrome
Orphanet:93453	Orphanet:3291	\N	"" []	Orphanet:3291	"" []	219778	\N	\N	EFO	1	EFO	Dysostosis with predominant craniofacial involvement	Teebi-Shaltout syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3291	"" []	575291	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Teebi-Shaltout syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3291	"" []	575292	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Teebi-Shaltout syndrome
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:3291	"" []	575293	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Teebi-Shaltout syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3291	"" []	1158248	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Teebi-Shaltout syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3291	"" []	1158249	\N	\N	EFO	3	EFO	Rare genetic skin disease	Teebi-Shaltout syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3291	"" []	1158250	\N	\N	EFO	3	EFO	Rare genetic bone disease	Teebi-Shaltout syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3291	"" []	1158251	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Teebi-Shaltout syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3291	"" []	3191760	\N	\N	EFO	5	EFO	genetic disorder	Teebi-Shaltout syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3291	"" []	2041461	\N	\N	EFO	4	EFO	genetic disorder	Teebi-Shaltout syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3291	"" []	2041462	\N	\N	EFO	4	EFO	skin disease	Teebi-Shaltout syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3291	"" []	2041463	\N	\N	EFO	4	EFO	genetic disorder	Teebi-Shaltout syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3291	"" []	2041464	\N	\N	EFO	4	EFO	bone disease	Teebi-Shaltout syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3291	"" []	2041465	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Teebi-Shaltout syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3291	"" []	4133905	\N	\N	EFO	6	EFO	disease	Teebi-Shaltout syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3291	"" []	3191758	\N	\N	EFO	5	EFO	disease	Teebi-Shaltout syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3291	"" []	3191759	\N	\N	EFO	5	EFO	skeletal system disease	Teebi-Shaltout syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3291	"" []	5182706	\N	\N	EFO	7	EFO	disposition	Teebi-Shaltout syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3291	"" []	4398373	\N	\N	EFO	6	EFO	disease	Teebi-Shaltout syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3291	"" []	5998080	\N	\N	EFO	8	EFO	material property	Teebi-Shaltout syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3291	"" []	6551371	\N	\N	EFO	9	EFO	experimental factor	Teebi-Shaltout syndrome
Orphanet:329178	\N	\N	"" []	Orphanet:329178	"" []	76674	\N	\N	EFO	0	EFO	Congenital muscular dystrophy with intellectual disability and severe epilepsy	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:309526	Orphanet:329178	\N	"" []	Orphanet:329178	"" []	219779	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:370953	Orphanet:329178	\N	"" []	Orphanet:329178	"" []	219780	\N	\N	EFO	1	EFO	Congenital muscular dystrophy due to dystroglycanopathy	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:371064	Orphanet:329178	\N	"" []	Orphanet:329178	"" []	219781	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:371071	Orphanet:329178	\N	"" []	Orphanet:329178	"" []	219782	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:371157	Orphanet:329178	\N	"" []	Orphanet:329178	"" []	219783	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:329178	"" []	575294	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:97242	Orphanet:370953	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:329178	"" []	575295	\N	\N	EFO	2	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:329178	"" []	575296	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:329178	"" []	575297	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:329178	"" []	575298	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:329178	"" []	575299	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:329178	"" []	1158252	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:329178	"" []	1158253	\N	\N	EFO	3	EFO	Muscular dystrophy	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:329178	"" []	1158254	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:329178	"" []	1158255	\N	\N	EFO	3	EFO	Neurometabolic disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:329178	"" []	1158256	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329178	"" []	2041466	\N	\N	EFO	4	EFO	genetic disorder	Congenital muscular dystrophy with intellectual disability and severe epilepsy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:329178	"" []	2041467	\N	\N	EFO	4	EFO	metabolic disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:329178	"" []	2041468	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:329178	"" []	2041469	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:329178	"" []	2041470	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy with intellectual disability and severe epilepsy
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:329178	"" []	2041471	\N	\N	EFO	4	EFO	digestive system disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329178	"" []	2041472	\N	\N	EFO	4	EFO	genetic disorder	Congenital muscular dystrophy with intellectual disability and severe epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329178	"" []	5877366	\N	\N	EFO	8	EFO	disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329178	"" []	3191762	\N	\N	EFO	5	EFO	disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:329178	"" []	3191763	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:329178	"" []	3191764	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy with intellectual disability and severe epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329178	"" []	5415633	\N	\N	EFO	7	EFO	genetic disorder	Congenital muscular dystrophy with intellectual disability and severe epilepsy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329178	"" []	3191766	\N	\N	EFO	5	EFO	disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329178	"" []	6410156	\N	\N	EFO	9	EFO	disposition	Congenital muscular dystrophy with intellectual disability and severe epilepsy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:329178	"" []	4398375	\N	\N	EFO	6	EFO	muscular disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:329178	"" []	4398376	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy with intellectual disability and severe epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329178	"" []	6807991	\N	\N	EFO	10	EFO	material property	Congenital muscular dystrophy with intellectual disability and severe epilepsy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:329178	"" []	5415632	\N	\N	EFO	7	EFO	skeletal system disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329178	"" []	7048712	\N	\N	EFO	11	EFO	experimental factor	Congenital muscular dystrophy with intellectual disability and severe epilepsy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329178	"" []	6151478	\N	\N	EFO	8	EFO	disease	Congenital muscular dystrophy with intellectual disability and severe epilepsy
Orphanet:329191	\N	\N	"" []	Orphanet:329191	"" []	76675	\N	\N	EFO	0	EFO	Tall stature - scoliosis - macrodactyly of the great toes	Tall stature - scoliosis - macrodactyly of the great toes
Orphanet:93454	Orphanet:329191	\N	"" []	Orphanet:329191	"" []	219784	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Tall stature - scoliosis - macrodactyly of the great toes
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:329191	"" []	575300	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Tall stature - scoliosis - macrodactyly of the great toes
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:329191	"" []	1158257	\N	\N	EFO	3	EFO	Rare genetic bone disease	Tall stature - scoliosis - macrodactyly of the great toes
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:329191	"" []	1158258	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Tall stature - scoliosis - macrodactyly of the great toes
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329191	"" []	2041473	\N	\N	EFO	4	EFO	genetic disorder	Tall stature - scoliosis - macrodactyly of the great toes
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:329191	"" []	2041474	\N	\N	EFO	4	EFO	bone disease	Tall stature - scoliosis - macrodactyly of the great toes
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:329191	"" []	2041475	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Tall stature - scoliosis - macrodactyly of the great toes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329191	"" []	4398381	\N	\N	EFO	6	EFO	disease	Tall stature - scoliosis - macrodactyly of the great toes
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:329191	"" []	3191768	\N	\N	EFO	5	EFO	skeletal system disease	Tall stature - scoliosis - macrodactyly of the great toes
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329191	"" []	3191769	\N	\N	EFO	5	EFO	genetic disorder	Tall stature - scoliosis - macrodactyly of the great toes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329191	"" []	5182709	\N	\N	EFO	7	EFO	disposition	Tall stature - scoliosis - macrodactyly of the great toes
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329191	"" []	4398380	\N	\N	EFO	6	EFO	disease	Tall stature - scoliosis - macrodactyly of the great toes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329191	"" []	5998082	\N	\N	EFO	8	EFO	material property	Tall stature - scoliosis - macrodactyly of the great toes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329191	"" []	6551373	\N	\N	EFO	9	EFO	experimental factor	Tall stature - scoliosis - macrodactyly of the great toes
Orphanet:329195	\N	\N	"" []	Orphanet:329195	"" []	76676	\N	\N	EFO	0	EFO	Developmental delay with autism spectrum disorder and gait instability	Developmental delay with autism spectrum disorder and gait instability
Orphanet:180772	Orphanet:329195	\N	"" []	Orphanet:329195	"" []	219785	\N	\N	EFO	1	EFO	Rare disease with autism	Developmental delay with autism spectrum disorder and gait instability
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:329195	"" []	575301	\N	\N	EFO	2	EFO	Rare pervasive developmental disorder	Developmental delay with autism spectrum disorder and gait instability
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:329195	"" []	1158259	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Developmental delay with autism spectrum disorder and gait instability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329195	"" []	2041476	\N	\N	EFO	4	EFO	genetic disorder	Developmental delay with autism spectrum disorder and gait instability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329195	"" []	3191770	\N	\N	EFO	5	EFO	disease	Developmental delay with autism spectrum disorder and gait instability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329195	"" []	4398382	\N	\N	EFO	6	EFO	disposition	Developmental delay with autism spectrum disorder and gait instability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329195	"" []	5415635	\N	\N	EFO	7	EFO	material property	Developmental delay with autism spectrum disorder and gait instability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329195	"" []	6151480	\N	\N	EFO	8	EFO	experimental factor	Developmental delay with autism spectrum disorder and gait instability
Orphanet:3292	\N	\N	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	Orphanet:3292	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	76677	\N	\N	EFO	0	EFO	Tel Hashomer camptodactyly syndrome	Tel Hashomer camptodactyly syndrome
Orphanet:206634	Orphanet:3292	\N	"" []	Orphanet:3292	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	219786	\N	\N	EFO	1	EFO	Genetic skeletal muscle disease	Tel Hashomer camptodactyly syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:3292	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	575302	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Tel Hashomer camptodactyly syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:3292	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	1158260	\N	\N	EFO	3	EFO	muscular disease	Tel Hashomer camptodactyly syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:3292	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	1158261	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Tel Hashomer camptodactyly syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3292	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	2041477	\N	\N	EFO	4	EFO	skeletal system disease	Tel Hashomer camptodactyly syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3292	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	2041478	\N	\N	EFO	4	EFO	genetic disorder	Tel Hashomer camptodactyly syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3292	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	3191771	\N	\N	EFO	5	EFO	disease	Tel Hashomer camptodactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3292	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	3191772	\N	\N	EFO	5	EFO	disease	Tel Hashomer camptodactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3292	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	4398383	\N	\N	EFO	6	EFO	disposition	Tel Hashomer camptodactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3292	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	5415636	\N	\N	EFO	7	EFO	material property	Tel Hashomer camptodactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3292	"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." []	6151481	\N	\N	EFO	8	EFO	experimental factor	Tel Hashomer camptodactyly syndrome
Orphanet:329211	\N	\N	"" []	Orphanet:329211	"" []	76678	\N	\N	EFO	0	EFO	Autosomal dominant neovascular inflammatory vitreoretinopathy	Autosomal dominant neovascular inflammatory vitreoretinopathy
Orphanet:98670	Orphanet:329211	\N	"" []	Orphanet:329211	"" []	219787	\N	\N	EFO	1	EFO	Vitreoretinal degeneration	Autosomal dominant neovascular inflammatory vitreoretinopathy
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:329211	"" []	575303	\N	\N	EFO	2	EFO	Vitreoretinopathy	Autosomal dominant neovascular inflammatory vitreoretinopathy
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:329211	"" []	1158262	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Autosomal dominant neovascular inflammatory vitreoretinopathy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:329211	"" []	2041479	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal dominant neovascular inflammatory vitreoretinopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329211	"" []	3191773	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant neovascular inflammatory vitreoretinopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:329211	"" []	3191774	\N	\N	EFO	5	EFO	eye disease	Autosomal dominant neovascular inflammatory vitreoretinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329211	"" []	4398384	\N	\N	EFO	6	EFO	disease	Autosomal dominant neovascular inflammatory vitreoretinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329211	"" []	4398385	\N	\N	EFO	6	EFO	disease	Autosomal dominant neovascular inflammatory vitreoretinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329211	"" []	5415637	\N	\N	EFO	7	EFO	disposition	Autosomal dominant neovascular inflammatory vitreoretinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329211	"" []	6151482	\N	\N	EFO	8	EFO	material property	Autosomal dominant neovascular inflammatory vitreoretinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329211	"" []	6633675	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant neovascular inflammatory vitreoretinopathy
Orphanet:329224	\N	\N	"" []	Orphanet:329224	"" []	76679	\N	\N	EFO	0	EFO	Intellectual disability - craniofacial dysmorphism - cryptorchidism	Intellectual disability - craniofacial dysmorphism - cryptorchidism
Orphanet:102283	Orphanet:329224	\N	"" []	Orphanet:329224	"" []	219788	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability - craniofacial dysmorphism - cryptorchidism
Orphanet:183763	Orphanet:329224	\N	"" []	Orphanet:329224	"" []	219789	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - craniofacial dysmorphism - cryptorchidism
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:329224	"" []	575304	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability - craniofacial dysmorphism - cryptorchidism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:329224	"" []	575305	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - craniofacial dysmorphism - cryptorchidism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:329224	"" []	1158263	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability - craniofacial dysmorphism - cryptorchidism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:329224	"" []	1158264	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - craniofacial dysmorphism - cryptorchidism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329224	"" []	2041480	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - craniofacial dysmorphism - cryptorchidism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329224	"" []	2041481	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - craniofacial dysmorphism - cryptorchidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329224	"" []	3191775	\N	\N	EFO	5	EFO	disease	Intellectual disability - craniofacial dysmorphism - cryptorchidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329224	"" []	4398386	\N	\N	EFO	6	EFO	disposition	Intellectual disability - craniofacial dysmorphism - cryptorchidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329224	"" []	5415638	\N	\N	EFO	7	EFO	material property	Intellectual disability - craniofacial dysmorphism - cryptorchidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329224	"" []	6151483	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability - craniofacial dysmorphism - cryptorchidism
Orphanet:329228	\N	\N	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	76680	\N	\N	EFO	0	EFO	Microcephalic primordial dwarfism due to ZNF335 deficiency	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:324761	Orphanet:329228	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	219790	\N	\N	EFO	1	EFO	Microcephalic primordial dwarfism	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:102283	Orphanet:324761	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	575306	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:183763	Orphanet:324761	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	575307	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:269528	Orphanet:324761	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	575308	\N	\N	EFO	2	EFO	Syndrome with microcephaly as major feature	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:93440	Orphanet:324761	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	575309	\N	\N	EFO	2	EFO	Slender bone dysplasia	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	1158265	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	1158266	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	1158267	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	1158268	\N	\N	EFO	3	EFO	Primary bone dysplasia	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	2041482	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	2041483	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	2041484	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	2041485	\N	\N	EFO	4	EFO	Rare genetic bone disease	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	2041486	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Microcephalic primordial dwarfism due to ZNF335 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	4398388	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic primordial dwarfism due to ZNF335 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	4398389	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	3191778	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	3191779	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Microcephalic primordial dwarfism due to ZNF335 deficiency
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	3191780	\N	\N	EFO	5	EFO	genetic disorder	Microcephalic primordial dwarfism due to ZNF335 deficiency
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	3191781	\N	\N	EFO	5	EFO	bone disease	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	3191782	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic primordial dwarfism due to ZNF335 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	5182710	\N	\N	EFO	7	EFO	disease	Microcephalic primordial dwarfism due to ZNF335 deficiency
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	4398390	\N	\N	EFO	6	EFO	skeletal system disease	Microcephalic primordial dwarfism due to ZNF335 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	5998083	\N	\N	EFO	8	EFO	disposition	Microcephalic primordial dwarfism due to ZNF335 deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	5415640	\N	\N	EFO	7	EFO	disease	Microcephalic primordial dwarfism due to ZNF335 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	6551374	\N	\N	EFO	9	EFO	material property	Microcephalic primordial dwarfism due to ZNF335 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329228	"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." []	6889417	\N	\N	EFO	10	EFO	experimental factor	Microcephalic primordial dwarfism due to ZNF335 deficiency
Orphanet:329235	\N	\N	"" []	Orphanet:329235	"" []	76681	\N	\N	EFO	0	EFO	X-linked central congenital hypothyroidism with late-onset testicular enlargement	X-linked central congenital hypothyroidism with late-onset testicular enlargement
Orphanet:226298	Orphanet:329235	\N	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	Orphanet:329235	"" []	219791	\N	\N	EFO	1	EFO	Central congenital hypothyroidism	X-linked central congenital hypothyroidism with late-onset testicular enlargement
Orphanet:226292	Orphanet:226298	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:329235	"" []	575310	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	X-linked central congenital hypothyroidism with late-onset testicular enlargement
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:329235	"" []	1158269	\N	\N	EFO	3	EFO	Congenital hypothyroidism	X-linked central congenital hypothyroidism with late-onset testicular enlargement
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:329235	"" []	2041487	\N	\N	EFO	4	EFO	Rare hypothyroidism	X-linked central congenital hypothyroidism with late-onset testicular enlargement
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:329235	"" []	3191783	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	X-linked central congenital hypothyroidism with late-onset testicular enlargement
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:329235	"" []	4398391	\N	\N	EFO	6	EFO	thyroid disease	X-linked central congenital hypothyroidism with late-onset testicular enlargement
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:329235	"" []	4398392	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	X-linked central congenital hypothyroidism with late-onset testicular enlargement
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:329235	"" []	5415641	\N	\N	EFO	7	EFO	endocrine system disease	X-linked central congenital hypothyroidism with late-onset testicular enlargement
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329235	"" []	5415642	\N	\N	EFO	7	EFO	genetic disorder	X-linked central congenital hypothyroidism with late-onset testicular enlargement
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:329235	"" []	5415643	\N	\N	EFO	7	EFO	endocrine system disease	X-linked central congenital hypothyroidism with late-onset testicular enlargement
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329235	"" []	6151485	\N	\N	EFO	8	EFO	disease	X-linked central congenital hypothyroidism with late-onset testicular enlargement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329235	"" []	6151486	\N	\N	EFO	8	EFO	disease	X-linked central congenital hypothyroidism with late-onset testicular enlargement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329235	"" []	6633677	\N	\N	EFO	9	EFO	disposition	X-linked central congenital hypothyroidism with late-onset testicular enlargement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329235	"" []	6926089	\N	\N	EFO	10	EFO	material property	X-linked central congenital hypothyroidism with late-onset testicular enlargement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329235	"" []	7099267	\N	\N	EFO	11	EFO	experimental factor	X-linked central congenital hypothyroidism with late-onset testicular enlargement
Orphanet:329242	\N	\N	"" []	Orphanet:329242	"" []	76682	\N	\N	EFO	0	EFO	Congenital chronic diarrhea with protein-losing enteropathy	Congenital chronic diarrhea with protein-losing enteropathy
Orphanet:363300	Orphanet:329242	\N	"" []	Orphanet:329242	"" []	219792	\N	\N	EFO	1	EFO	Genetic intractable diarrhea of infancy	Congenital chronic diarrhea with protein-losing enteropathy
Orphanet:165655	Orphanet:363300	\N	"" []	Orphanet:329242	"" []	575311	\N	\N	EFO	2	EFO	Genetic intestinal disease	Congenital chronic diarrhea with protein-losing enteropathy
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:329242	"" []	1158270	\N	\N	EFO	3	EFO	digestive system disease	Congenital chronic diarrhea with protein-losing enteropathy
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:329242	"" []	1158271	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Congenital chronic diarrhea with protein-losing enteropathy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329242	"" []	2041488	\N	\N	EFO	4	EFO	disease	Congenital chronic diarrhea with protein-losing enteropathy
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329242	"" []	2041489	\N	\N	EFO	4	EFO	genetic disorder	Congenital chronic diarrhea with protein-losing enteropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329242	"" []	4398394	\N	\N	EFO	6	EFO	disposition	Congenital chronic diarrhea with protein-losing enteropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329242	"" []	3191785	\N	\N	EFO	5	EFO	disease	Congenital chronic diarrhea with protein-losing enteropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329242	"" []	5182711	\N	\N	EFO	7	EFO	material property	Congenital chronic diarrhea with protein-losing enteropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329242	"" []	5998084	\N	\N	EFO	8	EFO	experimental factor	Congenital chronic diarrhea with protein-losing enteropathy
Orphanet:329249	\N	\N	"" []	Orphanet:329249	"" []	76683	\N	\N	EFO	0	EFO	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Orphanet:98267	Orphanet:329249	\N	"" []	Orphanet:329249	"" []	219793	\N	\N	EFO	1	EFO	Genetic non-syndromic obesity	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Orphanet:77828	Orphanet:98267	\N	"" []	Orphanet:329249	"" []	575312	\N	\N	EFO	2	EFO	Genetic obesity	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:329249	"" []	1158272	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:329249	"" []	1158273	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329249	"" []	2041490	\N	\N	EFO	4	EFO	genetic disorder	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:329249	"" []	2041491	\N	\N	EFO	4	EFO	endocrine system disease	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:329249	"" []	2041492	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329249	"" []	4398396	\N	\N	EFO	6	EFO	disease	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329249	"" []	3191787	\N	\N	EFO	5	EFO	disease	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329249	"" []	3191788	\N	\N	EFO	5	EFO	genetic disorder	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329249	"" []	5182712	\N	\N	EFO	7	EFO	disposition	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329249	"" []	5998085	\N	\N	EFO	8	EFO	material property	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329249	"" []	6551375	\N	\N	EFO	9	EFO	experimental factor	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Orphanet:329252	\N	\N	"" []	Orphanet:329252	"" []	76684	\N	\N	EFO	0	EFO	Spondylocostal dysostosis - hypospadias - intellectual disability	Spondylocostal dysostosis - hypospadias - intellectual disability
Orphanet:102283	Orphanet:329252	\N	"" []	Orphanet:329252	"" []	219794	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Spondylocostal dysostosis - hypospadias - intellectual disability
Orphanet:183763	Orphanet:329252	\N	"" []	Orphanet:329252	"" []	219795	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Spondylocostal dysostosis - hypospadias - intellectual disability
Orphanet:93454	Orphanet:329252	\N	"" []	Orphanet:329252	"" []	219796	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Spondylocostal dysostosis - hypospadias - intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:329252	"" []	575313	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Spondylocostal dysostosis - hypospadias - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:329252	"" []	575314	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Spondylocostal dysostosis - hypospadias - intellectual disability
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:329252	"" []	575315	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Spondylocostal dysostosis - hypospadias - intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:329252	"" []	1158274	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Spondylocostal dysostosis - hypospadias - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:329252	"" []	1158275	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Spondylocostal dysostosis - hypospadias - intellectual disability
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:329252	"" []	1158276	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylocostal dysostosis - hypospadias - intellectual disability
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:329252	"" []	1158277	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylocostal dysostosis - hypospadias - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329252	"" []	3191791	\N	\N	EFO	5	EFO	genetic disorder	Spondylocostal dysostosis - hypospadias - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329252	"" []	2041494	\N	\N	EFO	4	EFO	genetic disorder	Spondylocostal dysostosis - hypospadias - intellectual disability
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329252	"" []	2041495	\N	\N	EFO	4	EFO	genetic disorder	Spondylocostal dysostosis - hypospadias - intellectual disability
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:329252	"" []	2041496	\N	\N	EFO	4	EFO	bone disease	Spondylocostal dysostosis - hypospadias - intellectual disability
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:329252	"" []	2041497	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylocostal dysostosis - hypospadias - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329252	"" []	4133906	\N	\N	EFO	6	EFO	disease	Spondylocostal dysostosis - hypospadias - intellectual disability
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:329252	"" []	3191790	\N	\N	EFO	5	EFO	skeletal system disease	Spondylocostal dysostosis - hypospadias - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329252	"" []	5182713	\N	\N	EFO	7	EFO	disposition	Spondylocostal dysostosis - hypospadias - intellectual disability
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329252	"" []	4398398	\N	\N	EFO	6	EFO	disease	Spondylocostal dysostosis - hypospadias - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329252	"" []	5998086	\N	\N	EFO	8	EFO	material property	Spondylocostal dysostosis - hypospadias - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329252	"" []	6551376	\N	\N	EFO	9	EFO	experimental factor	Spondylocostal dysostosis - hypospadias - intellectual disability
Orphanet:329255	\N	\N	"" []	Orphanet:329255	"" []	76685	\N	\N	EFO	0	EFO	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
Orphanet:293642	Orphanet:329255	\N	"" []	Orphanet:329255	"" []	219797	\N	\N	EFO	1	EFO	Blepharophimosis-intellectual disability syndrome	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
Orphanet:102283	Orphanet:293642	\N	"" []	Orphanet:329255	"" []	575316	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
Orphanet:183763	Orphanet:293642	\N	"" []	Orphanet:329255	"" []	575317	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:329255	"" []	1158278	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:329255	"" []	1158279	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:329255	"" []	2041498	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:329255	"" []	2041499	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329255	"" []	3191792	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329255	"" []	3191793	\N	\N	EFO	5	EFO	genetic disorder	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329255	"" []	4398399	\N	\N	EFO	6	EFO	disease	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329255	"" []	5415647	\N	\N	EFO	7	EFO	disposition	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329255	"" []	6151489	\N	\N	EFO	8	EFO	material property	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329255	"" []	6633678	\N	\N	EFO	9	EFO	experimental factor	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
Orphanet:329258	\N	\N	"" []	Orphanet:329258	"" []	76686	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2Q	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Orphanet:64746	Orphanet:329258	\N	"" []	Orphanet:329258	"" []	219798	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:329258	"" []	575318	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:329258	"" []	575319	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:329258	"" []	1158280	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:329258	"" []	1158281	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:329258	"" []	2041500	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:329258	"" []	2041501	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:329258	"" []	3191795	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:329258	"" []	3191794	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329258	"" []	4133907	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329258	"" []	4398400	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329258	"" []	5182714	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329258	"" []	5415648	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329258	"" []	5998087	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329258	"" []	6551377	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329258	"" []	6889418	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Orphanet:329284	\N	\N	"" []	Orphanet:329284	"" []	76687	\N	\N	EFO	0	EFO	Beta-propeller protein-associated neurodegeneration	Beta-propeller protein-associated neurodegeneration
Orphanet:385	Orphanet:329284	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:329284	"" []	219799	\N	\N	EFO	1	EFO	Neurodegeneration with brain iron accumulation	Beta-propeller protein-associated neurodegeneration
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:329284	"" []	575320	\N	\N	EFO	2	EFO	Genetic dementia	Beta-propeller protein-associated neurodegeneration
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:329284	"" []	575321	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Beta-propeller protein-associated neurodegeneration
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:329284	"" []	575322	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Beta-propeller protein-associated neurodegeneration
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:329284	"" []	575323	\N	\N	EFO	2	EFO	Neurometabolic disease	Beta-propeller protein-associated neurodegeneration
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:329284	"" []	1158282	\N	\N	EFO	3	EFO	brain disease	Beta-propeller protein-associated neurodegeneration
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:329284	"" []	1158283	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Beta-propeller protein-associated neurodegeneration
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:329284	"" []	1158284	\N	\N	EFO	3	EFO	neurodegenerative disease	Beta-propeller protein-associated neurodegeneration
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:329284	"" []	1158285	\N	\N	EFO	3	EFO	brain disease	Beta-propeller protein-associated neurodegeneration
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:329284	"" []	1158286	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Beta-propeller protein-associated neurodegeneration
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:329284	"" []	1158287	\N	\N	EFO	3	EFO	neurodegenerative disease	Beta-propeller protein-associated neurodegeneration
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:329284	"" []	1158288	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Beta-propeller protein-associated neurodegeneration
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:329284	"" []	1158289	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Beta-propeller protein-associated neurodegeneration
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329284	"" []	2041503	\N	\N	EFO	4	EFO	nervous system disease	Beta-propeller protein-associated neurodegeneration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329284	"" []	3191800	\N	\N	EFO	5	EFO	genetic disorder	Beta-propeller protein-associated neurodegeneration
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329284	"" []	2041505	\N	\N	EFO	4	EFO	nervous system disease	Beta-propeller protein-associated neurodegeneration
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:329284	"" []	2041506	\N	\N	EFO	4	EFO	movement disorder	Beta-propeller protein-associated neurodegeneration
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:329284	"" []	2041507	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Beta-propeller protein-associated neurodegeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329284	"" []	4398403	\N	\N	EFO	6	EFO	disease	Beta-propeller protein-associated neurodegeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329284	"" []	4133908	\N	\N	EFO	6	EFO	disease	Beta-propeller protein-associated neurodegeneration
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329284	"" []	3191799	\N	\N	EFO	5	EFO	nervous system disease	Beta-propeller protein-associated neurodegeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329284	"" []	5182715	\N	\N	EFO	7	EFO	disposition	Beta-propeller protein-associated neurodegeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329284	"" []	5998088	\N	\N	EFO	8	EFO	material property	Beta-propeller protein-associated neurodegeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329284	"" []	6551378	\N	\N	EFO	9	EFO	experimental factor	Beta-propeller protein-associated neurodegeneration
Orphanet:3293	\N	\N	"" []	Orphanet:3293	"" []	76688	\N	\N	EFO	0	EFO	Telecanthus - hypertelorism - strabismus - pes cavus	Telecanthus - hypertelorism - strabismus - pes cavus
Orphanet:102283	Orphanet:3293	\N	"" []	Orphanet:3293	"" []	219800	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Telecanthus - hypertelorism - strabismus - pes cavus
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3293	"" []	575324	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Telecanthus - hypertelorism - strabismus - pes cavus
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3293	"" []	1158290	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Telecanthus - hypertelorism - strabismus - pes cavus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3293	"" []	2041508	\N	\N	EFO	4	EFO	genetic disorder	Telecanthus - hypertelorism - strabismus - pes cavus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3293	"" []	3191801	\N	\N	EFO	5	EFO	disease	Telecanthus - hypertelorism - strabismus - pes cavus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3293	"" []	4398404	\N	\N	EFO	6	EFO	disposition	Telecanthus - hypertelorism - strabismus - pes cavus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3293	"" []	5415651	\N	\N	EFO	7	EFO	material property	Telecanthus - hypertelorism - strabismus - pes cavus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3293	"" []	6151492	\N	\N	EFO	8	EFO	experimental factor	Telecanthus - hypertelorism - strabismus - pes cavus
Orphanet:329303	\N	\N	"" []	Orphanet:329303	"" []	76689	\N	\N	EFO	0	EFO	PLA2G6-associated neurodegeneration	PLA2G6-associated neurodegeneration
Orphanet:352306	Orphanet:329303	\N	"" []	Orphanet:329303	"" []	219801	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	PLA2G6-associated neurodegeneration
Orphanet:385	Orphanet:329303	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:329303	"" []	219802	\N	\N	EFO	1	EFO	Neurodegeneration with brain iron accumulation	PLA2G6-associated neurodegeneration
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:329303	"" []	575325	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	PLA2G6-associated neurodegeneration
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:329303	"" []	575326	\N	\N	EFO	2	EFO	Genetic dementia	PLA2G6-associated neurodegeneration
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:329303	"" []	575327	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	PLA2G6-associated neurodegeneration
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:329303	"" []	575328	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	PLA2G6-associated neurodegeneration
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:329303	"" []	575329	\N	\N	EFO	2	EFO	Neurometabolic disease	PLA2G6-associated neurodegeneration
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:329303	"" []	1158291	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	PLA2G6-associated neurodegeneration
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:329303	"" []	1158292	\N	\N	EFO	3	EFO	brain disease	PLA2G6-associated neurodegeneration
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:329303	"" []	1158293	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	PLA2G6-associated neurodegeneration
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:329303	"" []	1158294	\N	\N	EFO	3	EFO	neurodegenerative disease	PLA2G6-associated neurodegeneration
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:329303	"" []	1158295	\N	\N	EFO	3	EFO	brain disease	PLA2G6-associated neurodegeneration
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:329303	"" []	1158296	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	PLA2G6-associated neurodegeneration
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:329303	"" []	1158297	\N	\N	EFO	3	EFO	neurodegenerative disease	PLA2G6-associated neurodegeneration
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:329303	"" []	1158298	\N	\N	EFO	3	EFO	Rare genetic movement disorder	PLA2G6-associated neurodegeneration
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:329303	"" []	1158299	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	PLA2G6-associated neurodegeneration
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:329303	"" []	2041509	\N	\N	EFO	4	EFO	Inborn errors of metabolism	PLA2G6-associated neurodegeneration
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329303	"" []	2041510	\N	\N	EFO	4	EFO	nervous system disease	PLA2G6-associated neurodegeneration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329303	"" []	3191807	\N	\N	EFO	5	EFO	genetic disorder	PLA2G6-associated neurodegeneration
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329303	"" []	2041512	\N	\N	EFO	4	EFO	nervous system disease	PLA2G6-associated neurodegeneration
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:329303	"" []	2041513	\N	\N	EFO	4	EFO	movement disorder	PLA2G6-associated neurodegeneration
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:329303	"" []	2041514	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	PLA2G6-associated neurodegeneration
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329303	"" []	3191802	\N	\N	EFO	5	EFO	genetic disorder	PLA2G6-associated neurodegeneration
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:329303	"" []	3191803	\N	\N	EFO	5	EFO	metabolic disease	PLA2G6-associated neurodegeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329303	"" []	4398407	\N	\N	EFO	6	EFO	disease	PLA2G6-associated neurodegeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329303	"" []	4133909	\N	\N	EFO	6	EFO	disease	PLA2G6-associated neurodegeneration
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329303	"" []	3191806	\N	\N	EFO	5	EFO	nervous system disease	PLA2G6-associated neurodegeneration
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329303	"" []	4398405	\N	\N	EFO	6	EFO	disease	PLA2G6-associated neurodegeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329303	"" []	5182716	\N	\N	EFO	7	EFO	disposition	PLA2G6-associated neurodegeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329303	"" []	5998089	\N	\N	EFO	8	EFO	material property	PLA2G6-associated neurodegeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329303	"" []	6551379	\N	\N	EFO	9	EFO	experimental factor	PLA2G6-associated neurodegeneration
Orphanet:329308	\N	\N	"" []	Orphanet:329308	"" []	76690	\N	\N	EFO	0	EFO	Fatty acid hydroxylase-associated neurodegeneration	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:352306	Orphanet:329308	\N	"" []	Orphanet:329308	"" []	219803	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:385	Orphanet:329308	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:329308	"" []	219804	\N	\N	EFO	1	EFO	Neurodegeneration with brain iron accumulation	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:98677	Orphanet:329308	\N	"" []	Orphanet:329308	"" []	219805	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:329308	"" []	575330	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:329308	"" []	575331	\N	\N	EFO	2	EFO	Genetic dementia	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:329308	"" []	575332	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:329308	"" []	575333	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:329308	"" []	575334	\N	\N	EFO	2	EFO	Neurometabolic disease	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:329308	"" []	575335	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:329308	"" []	1158300	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Fatty acid hydroxylase-associated neurodegeneration
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:329308	"" []	1158301	\N	\N	EFO	3	EFO	brain disease	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:329308	"" []	1158302	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Fatty acid hydroxylase-associated neurodegeneration
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:329308	"" []	1158303	\N	\N	EFO	3	EFO	neurodegenerative disease	Fatty acid hydroxylase-associated neurodegeneration
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:329308	"" []	1158304	\N	\N	EFO	3	EFO	brain disease	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:329308	"" []	1158305	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Fatty acid hydroxylase-associated neurodegeneration
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:329308	"" []	1158306	\N	\N	EFO	3	EFO	neurodegenerative disease	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:329308	"" []	1158307	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:329308	"" []	1158308	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:329308	"" []	1158309	\N	\N	EFO	3	EFO	Genetic optic atrophy	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:329308	"" []	2041515	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Fatty acid hydroxylase-associated neurodegeneration
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329308	"" []	2041516	\N	\N	EFO	4	EFO	nervous system disease	Fatty acid hydroxylase-associated neurodegeneration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329308	"" []	3191813	\N	\N	EFO	5	EFO	genetic disorder	Fatty acid hydroxylase-associated neurodegeneration
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329308	"" []	2041518	\N	\N	EFO	4	EFO	nervous system disease	Fatty acid hydroxylase-associated neurodegeneration
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:329308	"" []	2041519	\N	\N	EFO	4	EFO	movement disorder	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:329308	"" []	2041520	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:329308	"" []	2041521	\N	\N	EFO	4	EFO	Optic neuropathy	Fatty acid hydroxylase-associated neurodegeneration
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329308	"" []	3191808	\N	\N	EFO	5	EFO	genetic disorder	Fatty acid hydroxylase-associated neurodegeneration
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:329308	"" []	3191809	\N	\N	EFO	5	EFO	metabolic disease	Fatty acid hydroxylase-associated neurodegeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329308	"" []	4398410	\N	\N	EFO	6	EFO	disease	Fatty acid hydroxylase-associated neurodegeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329308	"" []	5415654	\N	\N	EFO	7	EFO	disease	Fatty acid hydroxylase-associated neurodegeneration
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329308	"" []	3191812	\N	\N	EFO	5	EFO	nervous system disease	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:329308	"" []	3191814	\N	\N	EFO	5	EFO	Rare genetic eye disease	Fatty acid hydroxylase-associated neurodegeneration
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329308	"" []	4398408	\N	\N	EFO	6	EFO	disease	Fatty acid hydroxylase-associated neurodegeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329308	"" []	5877367	\N	\N	EFO	8	EFO	disposition	Fatty acid hydroxylase-associated neurodegeneration
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329308	"" []	4398411	\N	\N	EFO	6	EFO	genetic disorder	Fatty acid hydroxylase-associated neurodegeneration
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:329308	"" []	4398412	\N	\N	EFO	6	EFO	eye disease	Fatty acid hydroxylase-associated neurodegeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329308	"" []	6470603	\N	\N	EFO	9	EFO	material property	Fatty acid hydroxylase-associated neurodegeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329308	"" []	5415655	\N	\N	EFO	7	EFO	disease	Fatty acid hydroxylase-associated neurodegeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329308	"" []	6848622	\N	\N	EFO	10	EFO	experimental factor	Fatty acid hydroxylase-associated neurodegeneration
Orphanet:329314	\N	\N	"" []	Orphanet:329314	"" []	76691	\N	\N	EFO	0	EFO	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:206966	Orphanet:329314	\N	"" []	Orphanet:329314	"" []	219806	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:254807	Orphanet:329314	\N	"" []	Orphanet:329314	"" []	219807	\N	\N	EFO	1	EFO	Multiple mitochondrial DNA deletion syndrome	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:329314	"" []	575336	\N	\N	EFO	2	EFO	Muscular lipidosis	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:352456	Orphanet:254807	\N	"" []	Orphanet:329314	"" []	575337	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:329314	"" []	1158310	\N	\N	EFO	3	EFO	Metabolic myopathy	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:329314	"" []	1158311	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:329314	"" []	2041522	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:329314	"" []	2041523	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:329314	"" []	3191815	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:329314	"" []	3191816	\N	\N	EFO	5	EFO	Mitochondrial disease	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:329314	"" []	4398413	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:329314	"" []	4398414	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:329314	"" []	4398415	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:329314	"" []	5415656	\N	\N	EFO	7	EFO	muscular disease	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:329314	"" []	5415657	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:329314	"" []	5415658	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:329314	"" []	5415659	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:329314	"" []	6151495	\N	\N	EFO	8	EFO	skeletal system disease	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329314	"" []	6151496	\N	\N	EFO	8	EFO	genetic disorder	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329314	"" []	6151497	\N	\N	EFO	8	EFO	genetic disorder	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329314	"" []	6151498	\N	\N	EFO	8	EFO	genetic disorder	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:329314	"" []	6151499	\N	\N	EFO	8	EFO	metabolic disease	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329314	"" []	6633680	\N	\N	EFO	9	EFO	disease	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329314	"" []	6633681	\N	\N	EFO	9	EFO	disease	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329314	"" []	6633682	\N	\N	EFO	9	EFO	disease	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329314	"" []	6926090	\N	\N	EFO	10	EFO	disposition	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329314	"" []	7099268	\N	\N	EFO	11	EFO	material property	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329314	"" []	7208347	\N	\N	EFO	12	EFO	experimental factor	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Orphanet:329319	\N	\N	"" []	Orphanet:329319	"" []	76692	\N	\N	EFO	0	EFO	Hereditary thrombocytosis with transverse limb defect	Hereditary thrombocytosis with transverse limb defect
Orphanet:248401	Orphanet:329319	\N	"" []	Orphanet:329319	"" []	219808	\N	\N	EFO	1	EFO	Rare thrombotic disorder due to a constitutional platelet anomaly	Hereditary thrombocytosis with transverse limb defect
Orphanet:404574	Orphanet:329319	\N	"" []	Orphanet:329319	"" []	219809	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Hereditary thrombocytosis with transverse limb defect
Orphanet:183654	Orphanet:248401	\N	"" []	Orphanet:329319	"" []	575338	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Hereditary thrombocytosis with transverse limb defect
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:329319	"" []	575339	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Hereditary thrombocytosis with transverse limb defect
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:329319	"" []	575340	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Hereditary thrombocytosis with transverse limb defect
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:329319	"" []	1158312	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Hereditary thrombocytosis with transverse limb defect
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:329319	"" []	1158313	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Hereditary thrombocytosis with transverse limb defect
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:329319	"" []	1158314	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Hereditary thrombocytosis with transverse limb defect
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329319	"" []	2041524	\N	\N	EFO	4	EFO	genetic disorder	Hereditary thrombocytosis with transverse limb defect
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:329319	"" []	2041525	\N	\N	EFO	4	EFO	hematological system disease	Hereditary thrombocytosis with transverse limb defect
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:329319	"" []	2041526	\N	\N	EFO	4	EFO	Rare genetic bone disease	Hereditary thrombocytosis with transverse limb defect
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:329319	"" []	2041527	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Hereditary thrombocytosis with transverse limb defect
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:329319	"" []	2041528	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hereditary thrombocytosis with transverse limb defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329319	"" []	5182719	\N	\N	EFO	7	EFO	disease	Hereditary thrombocytosis with transverse limb defect
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329319	"" []	3191818	\N	\N	EFO	5	EFO	disease	Hereditary thrombocytosis with transverse limb defect
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329319	"" []	3191819	\N	\N	EFO	5	EFO	genetic disorder	Hereditary thrombocytosis with transverse limb defect
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:329319	"" []	3191820	\N	\N	EFO	5	EFO	bone disease	Hereditary thrombocytosis with transverse limb defect
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:329319	"" []	3191821	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hereditary thrombocytosis with transverse limb defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329319	"" []	4398419	\N	\N	EFO	6	EFO	genetic disorder	Hereditary thrombocytosis with transverse limb defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329319	"" []	5877368	\N	\N	EFO	8	EFO	disposition	Hereditary thrombocytosis with transverse limb defect
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:329319	"" []	4398418	\N	\N	EFO	6	EFO	skeletal system disease	Hereditary thrombocytosis with transverse limb defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329319	"" []	6470604	\N	\N	EFO	9	EFO	material property	Hereditary thrombocytosis with transverse limb defect
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329319	"" []	5415661	\N	\N	EFO	7	EFO	disease	Hereditary thrombocytosis with transverse limb defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329319	"" []	6848623	\N	\N	EFO	10	EFO	experimental factor	Hereditary thrombocytosis with transverse limb defect
Orphanet:329324	\N	\N	"" []	Orphanet:329324	"" []	76693	\N	\N	EFO	0	EFO	Inverse Klippel-Trnaunay syndrome	Inverse Klippel-Trnaunay syndrome
Orphanet:235832	Orphanet:329324	\N	"" []	Orphanet:329324	"" []	219810	\N	\N	EFO	1	EFO	Congenital vascular bone syndrome	Inverse Klippel-Trnaunay syndrome
Orphanet:183524	Orphanet:235832	\N	"" []	Orphanet:329324	"" []	575341	\N	\N	EFO	2	EFO	Rare genetic bone disease	Inverse Klippel-Trnaunay syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329324	"" []	1158315	\N	\N	EFO	3	EFO	genetic disorder	Inverse Klippel-Trnaunay syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:329324	"" []	1158316	\N	\N	EFO	3	EFO	bone disease	Inverse Klippel-Trnaunay syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329324	"" []	2041529	\N	\N	EFO	4	EFO	disease	Inverse Klippel-Trnaunay syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:329324	"" []	2041530	\N	\N	EFO	4	EFO	skeletal system disease	Inverse Klippel-Trnaunay syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329324	"" []	4398421	\N	\N	EFO	6	EFO	disposition	Inverse Klippel-Trnaunay syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329324	"" []	3191824	\N	\N	EFO	5	EFO	disease	Inverse Klippel-Trnaunay syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329324	"" []	5182720	\N	\N	EFO	7	EFO	material property	Inverse Klippel-Trnaunay syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329324	"" []	5998092	\N	\N	EFO	8	EFO	experimental factor	Inverse Klippel-Trnaunay syndrome
Orphanet:329329	\N	\N	"" []	Orphanet:329329	"" []	76694	\N	\N	EFO	0	EFO	Autosomal recessive frontotemporal pachygyria	Autosomal recessive frontotemporal pachygyria
Orphanet:163209	Orphanet:329329	\N	"" []	Orphanet:329329	"" []	219811	\N	\N	EFO	1	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Autosomal recessive frontotemporal pachygyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:329329	"" []	575342	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Autosomal recessive frontotemporal pachygyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:329329	"" []	575343	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Autosomal recessive frontotemporal pachygyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:329329	"" []	1158317	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Autosomal recessive frontotemporal pachygyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:329329	"" []	1158318	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Autosomal recessive frontotemporal pachygyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:329329	"" []	2041531	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive frontotemporal pachygyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:329329	"" []	2041532	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Autosomal recessive frontotemporal pachygyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329329	"" []	4398424	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive frontotemporal pachygyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:329329	"" []	3191826	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive frontotemporal pachygyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:329329	"" []	3191827	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive frontotemporal pachygyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329329	"" []	5182721	\N	\N	EFO	7	EFO	disease	Autosomal recessive frontotemporal pachygyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329329	"" []	4398423	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive frontotemporal pachygyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329329	"" []	5998093	\N	\N	EFO	8	EFO	disposition	Autosomal recessive frontotemporal pachygyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329329	"" []	6551382	\N	\N	EFO	9	EFO	material property	Autosomal recessive frontotemporal pachygyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329329	"" []	6889419	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive frontotemporal pachygyria
Orphanet:329332	\N	\N	"" []	Orphanet:329332	"" []	76695	\N	\N	EFO	0	EFO	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Orphanet:102283	Orphanet:329332	\N	"" []	Orphanet:329332	"" []	219812	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Orphanet:183763	Orphanet:329332	\N	"" []	Orphanet:329332	"" []	219813	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Orphanet:269528	Orphanet:329332	\N	"" []	Orphanet:329332	"" []	219814	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:329332	"" []	575344	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:329332	"" []	575345	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:329332	"" []	575346	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:329332	"" []	1158319	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:329332	"" []	1158320	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:329332	"" []	1158321	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329332	"" []	3191829	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329332	"" []	3191830	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:329332	"" []	2041535	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:329332	"" []	2041536	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329332	"" []	4133911	\N	\N	EFO	6	EFO	disease	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329332	"" []	5182722	\N	\N	EFO	7	EFO	disposition	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329332	"" []	5998094	\N	\N	EFO	8	EFO	material property	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329332	"" []	6551383	\N	\N	EFO	9	EFO	experimental factor	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Orphanet:329336	\N	\N	"" []	Orphanet:329336	"" []	76696	\N	\N	EFO	0	EFO	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:206966	Orphanet:329336	\N	"" []	Orphanet:329336	"" []	219815	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:254767	Orphanet:329336	\N	"" []	Orphanet:329336	"" []	219816	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:68385	Orphanet:329336	\N	"" []	Orphanet:329336	"" []	219817	\N	\N	EFO	1	EFO	Neurometabolic disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:90642	Orphanet:329336	\N	"" []	Orphanet:329336	"" []	219818	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:329336	"" []	575347	\N	\N	EFO	2	EFO	Muscular lipidosis	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:254758	Orphanet:254767	\N	"" []	Orphanet:329336	"" []	575348	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:329336	"" []	575349	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:329336	"" []	575350	\N	\N	EFO	2	EFO	Rare genetic deafness	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:329336	"" []	1158322	\N	\N	EFO	3	EFO	Metabolic myopathy	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:329336	"" []	1158323	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329336	"" []	6151504	\N	\N	EFO	8	EFO	genetic disorder	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329336	"" []	1158325	\N	\N	EFO	3	EFO	genetic disorder	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:329336	"" []	1158326	\N	\N	EFO	3	EFO	auditory system disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:329336	"" []	2041537	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:329336	"" []	2041538	\N	\N	EFO	4	EFO	Mitochondrial disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329336	"" []	6370824	\N	\N	EFO	9	EFO	disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:329336	"" []	2041540	\N	\N	EFO	4	EFO	sensory system disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:329336	"" []	3191831	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:329336	"" []	3191832	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:329336	"" []	3191833	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329336	"" []	6762387	\N	\N	EFO	10	EFO	disposition	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329336	"" []	3191835	\N	\N	EFO	5	EFO	nervous system disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:329336	"" []	4398426	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:329336	"" []	4398427	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:329336	"" []	4398428	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329336	"" []	7015698	\N	\N	EFO	11	EFO	material property	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329336	"" []	4398430	\N	\N	EFO	6	EFO	disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:329336	"" []	5415665	\N	\N	EFO	7	EFO	muscular disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:329336	"" []	5415666	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329336	"" []	5415667	\N	\N	EFO	7	EFO	genetic disorder	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329336	"" []	5415668	\N	\N	EFO	7	EFO	genetic disorder	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:329336	"" []	5415669	\N	\N	EFO	7	EFO	metabolic disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329336	"" []	7173646	\N	\N	EFO	12	EFO	experimental factor	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:329336	"" []	6151503	\N	\N	EFO	8	EFO	skeletal system disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329336	"" []	6151506	\N	\N	EFO	8	EFO	disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329336	"" []	6633684	\N	\N	EFO	9	EFO	disease	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:3294	\N	\N	"" []	Orphanet:3294	"" []	76697	\N	\N	EFO	0	EFO	Extensor tendons of finger anomalies	Extensor tendons of finger anomalies
Orphanet:404577	Orphanet:3294	\N	"" []	Orphanet:3294	"" []	219819	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Extensor tendons of finger anomalies
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3294	"" []	575351	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Extensor tendons of finger anomalies
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3294	"" []	1158327	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Extensor tendons of finger anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3294	"" []	2041541	\N	\N	EFO	4	EFO	genetic disorder	Extensor tendons of finger anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3294	"" []	3191836	\N	\N	EFO	5	EFO	disease	Extensor tendons of finger anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3294	"" []	4398431	\N	\N	EFO	6	EFO	disposition	Extensor tendons of finger anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3294	"" []	5415672	\N	\N	EFO	7	EFO	material property	Extensor tendons of finger anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3294	"" []	6151507	\N	\N	EFO	8	EFO	experimental factor	Extensor tendons of finger anomalies
Orphanet:329457	\N	\N	"" []	Orphanet:329457	"" []	76698	\N	\N	EFO	0	EFO	Distal arthrogryposis type 5D	Distal arthrogryposis type 5D
Orphanet:97120	Orphanet:329457	\N	"" []	Orphanet:329457	"" []	219820	\N	\N	EFO	1	EFO	Distal arthrogryposis	Distal arthrogryposis type 5D
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:329457	"" []	575352	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Distal arthrogryposis type 5D
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:329457	"" []	1158328	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Distal arthrogryposis type 5D
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:329457	"" []	2041542	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Distal arthrogryposis type 5D
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:329457	"" []	3191837	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Distal arthrogryposis type 5D
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329457	"" []	4398432	\N	\N	EFO	6	EFO	genetic disorder	Distal arthrogryposis type 5D
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329457	"" []	5415673	\N	\N	EFO	7	EFO	disease	Distal arthrogryposis type 5D
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329457	"" []	6151508	\N	\N	EFO	8	EFO	disposition	Distal arthrogryposis type 5D
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329457	"" []	6633685	\N	\N	EFO	9	EFO	material property	Distal arthrogryposis type 5D
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329457	"" []	6926091	\N	\N	EFO	10	EFO	experimental factor	Distal arthrogryposis type 5D
Orphanet:329466	\N	\N	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	76699	\N	\N	EFO	0	EFO	Autosomal dominant focal dystonia, DYT25	Autosomal dominant focal dystonia, DYT25
Orphanet:1866	Orphanet:329466	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	219821	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Autosomal dominant focal dystonia, DYT25
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	575353	\N	\N	EFO	2	EFO	Isolated dystonia	Autosomal dominant focal dystonia, DYT25
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	1158329	\N	\N	EFO	3	EFO	Rare genetic dystonia	Autosomal dominant focal dystonia, DYT25
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	2041543	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Autosomal dominant focal dystonia, DYT25
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	3191838	\N	\N	EFO	5	EFO	movement disorder	Autosomal dominant focal dystonia, DYT25
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	3191839	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant focal dystonia, DYT25
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	4398433	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant focal dystonia, DYT25
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	4398434	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant focal dystonia, DYT25
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	5415674	\N	\N	EFO	7	EFO	disease	Autosomal dominant focal dystonia, DYT25
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	5415675	\N	\N	EFO	7	EFO	disease	Autosomal dominant focal dystonia, DYT25
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	6151509	\N	\N	EFO	8	EFO	disposition	Autosomal dominant focal dystonia, DYT25
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	6633686	\N	\N	EFO	9	EFO	material property	Autosomal dominant focal dystonia, DYT25
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329466	"Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." []	6926092	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant focal dystonia, DYT25
Orphanet:329475	\N	\N	"" []	Orphanet:329475	"" []	76700	\N	\N	EFO	0	EFO	Spastic paraplegia - Paget disease of bone	Spastic paraplegia - Paget disease of bone
Orphanet:100979	Orphanet:329475	\N	"" []	Orphanet:329475	"" []	219822	\N	\N	EFO	1	EFO	Autosomal dominant complex spastic paraplegia	Spastic paraplegia - Paget disease of bone
Orphanet:93450	Orphanet:329475	\N	"" []	Orphanet:329475	"" []	219823	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Spastic paraplegia - Paget disease of bone
Orphanet:102013	Orphanet:100979	\N	"" []	Orphanet:329475	"" []	575354	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Spastic paraplegia - Paget disease of bone
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:329475	"" []	575355	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spastic paraplegia - Paget disease of bone
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:329475	"" []	1158330	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Spastic paraplegia - Paget disease of bone
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:329475	"" []	1158331	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spastic paraplegia - Paget disease of bone
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:329475	"" []	1158332	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spastic paraplegia - Paget disease of bone
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:329475	"" []	2041544	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Spastic paraplegia - Paget disease of bone
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329475	"" []	2041545	\N	\N	EFO	4	EFO	genetic disorder	Spastic paraplegia - Paget disease of bone
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:329475	"" []	2041546	\N	\N	EFO	4	EFO	bone disease	Spastic paraplegia - Paget disease of bone
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:329475	"" []	2041547	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spastic paraplegia - Paget disease of bone
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:329475	"" []	3191840	\N	\N	EFO	5	EFO	neurodegenerative disease	Spastic paraplegia - Paget disease of bone
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:329475	"" []	3191841	\N	\N	EFO	5	EFO	brain disease	Spastic paraplegia - Paget disease of bone
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:329475	"" []	3191842	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spastic paraplegia - Paget disease of bone
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329475	"" []	5415677	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - Paget disease of bone
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:329475	"" []	3191844	\N	\N	EFO	5	EFO	skeletal system disease	Spastic paraplegia - Paget disease of bone
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329475	"" []	3191845	\N	\N	EFO	5	EFO	genetic disorder	Spastic paraplegia - Paget disease of bone
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329475	"" []	4398435	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - Paget disease of bone
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:329475	"" []	4398436	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia - Paget disease of bone
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329475	"" []	4398437	\N	\N	EFO	6	EFO	genetic disorder	Spastic paraplegia - Paget disease of bone
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329475	"" []	5877370	\N	\N	EFO	8	EFO	disposition	Spastic paraplegia - Paget disease of bone
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329475	"" []	4398439	\N	\N	EFO	6	EFO	disease	Spastic paraplegia - Paget disease of bone
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329475	"" []	5415676	\N	\N	EFO	7	EFO	disease	Spastic paraplegia - Paget disease of bone
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329475	"" []	6470606	\N	\N	EFO	9	EFO	material property	Spastic paraplegia - Paget disease of bone
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329475	"" []	6848624	\N	\N	EFO	10	EFO	experimental factor	Spastic paraplegia - Paget disease of bone
Orphanet:329478	\N	\N	"" []	Orphanet:329478	"" []	76701	\N	\N	EFO	0	EFO	Adult-onset distal myopathy due to VCP mutation	Adult-onset distal myopathy due to VCP mutation
Orphanet:206650	Orphanet:329478	\N	"" []	Orphanet:329478	"" []	219824	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Adult-onset distal myopathy due to VCP mutation
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:329478	"" []	575356	\N	\N	EFO	2	EFO	Distal myopathy	Adult-onset distal myopathy due to VCP mutation
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:329478	"" []	1158333	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Adult-onset distal myopathy due to VCP mutation
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:329478	"" []	2041548	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Adult-onset distal myopathy due to VCP mutation
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:329478	"" []	3191846	\N	\N	EFO	5	EFO	muscular disease	Adult-onset distal myopathy due to VCP mutation
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:329478	"" []	3191847	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Adult-onset distal myopathy due to VCP mutation
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:329478	"" []	4398441	\N	\N	EFO	6	EFO	skeletal system disease	Adult-onset distal myopathy due to VCP mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329478	"" []	4398442	\N	\N	EFO	6	EFO	genetic disorder	Adult-onset distal myopathy due to VCP mutation
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329478	"" []	5415679	\N	\N	EFO	7	EFO	disease	Adult-onset distal myopathy due to VCP mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329478	"" []	5415680	\N	\N	EFO	7	EFO	disease	Adult-onset distal myopathy due to VCP mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329478	"" []	6151511	\N	\N	EFO	8	EFO	disposition	Adult-onset distal myopathy due to VCP mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329478	"" []	6633687	\N	\N	EFO	9	EFO	material property	Adult-onset distal myopathy due to VCP mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329478	"" []	6926093	\N	\N	EFO	10	EFO	experimental factor	Adult-onset distal myopathy due to VCP mutation
Orphanet:329481	\N	\N	"" []	Orphanet:329481	"" []	76702	\N	\N	EFO	0	EFO	Lipoprotein glomerulopathy	Lipoprotein glomerulopathy
Orphanet:102373	Orphanet:329481	\N	"" []	Orphanet:329481	"" []	219825	\N	\N	EFO	1	EFO	Primary glomerular disease	Lipoprotein glomerulopathy
Orphanet:181437	Orphanet:329481	\N	"" []	Orphanet:329481	"" []	219826	\N	\N	EFO	1	EFO	Rare syndromic dyslipidemia	Lipoprotein glomerulopathy
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:329481	"" []	575357	\N	\N	EFO	2	EFO	Genetic glomerular disease	Lipoprotein glomerulopathy
Orphanet:101953	Orphanet:181437	\N	"" []	Orphanet:329481	"" []	575358	\N	\N	EFO	2	EFO	Rare dyslipidemia	Lipoprotein glomerulopathy
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:329481	"" []	1158334	\N	\N	EFO	3	EFO	Rare genetic renal disease	Lipoprotein glomerulopathy
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:329481	"" []	1158335	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Lipoprotein glomerulopathy
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:329481	"" []	1158336	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Lipoprotein glomerulopathy
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329481	"" []	2041549	\N	\N	EFO	4	EFO	genetic disorder	Lipoprotein glomerulopathy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329481	"" []	2041550	\N	\N	EFO	4	EFO	genetic disorder	Lipoprotein glomerulopathy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:329481	"" []	2041551	\N	\N	EFO	4	EFO	endocrine system disease	Lipoprotein glomerulopathy
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:329481	"" []	2041552	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Lipoprotein glomerulopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329481	"" []	4398444	\N	\N	EFO	6	EFO	disease	Lipoprotein glomerulopathy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329481	"" []	3191849	\N	\N	EFO	5	EFO	disease	Lipoprotein glomerulopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329481	"" []	3191850	\N	\N	EFO	5	EFO	genetic disorder	Lipoprotein glomerulopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:329481	"" []	3191851	\N	\N	EFO	5	EFO	metabolic disease	Lipoprotein glomerulopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329481	"" []	5182724	\N	\N	EFO	7	EFO	disposition	Lipoprotein glomerulopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329481	"" []	4398445	\N	\N	EFO	6	EFO	disease	Lipoprotein glomerulopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329481	"" []	5998096	\N	\N	EFO	8	EFO	material property	Lipoprotein glomerulopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329481	"" []	6551385	\N	\N	EFO	9	EFO	experimental factor	Lipoprotein glomerulopathy
Orphanet:32960	\N	\N	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	76703	\N	\N	EFO	0	EFO	Tumor necrosis factor receptor 1 associated periodic syndrome	Tumor necrosis factor receptor 1 associated periodic syndrome
Orphanet:290839	Orphanet:32960	\N	"" []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	219827	\N	\N	EFO	1	EFO	Autoinflammatory syndrome with immune deficiency	Tumor necrosis factor receptor 1 associated periodic syndrome
Orphanet:324924	Orphanet:32960	\N	"" []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	219828	\N	\N	EFO	1	EFO	Hereditary periodic fever syndrome	Tumor necrosis factor receptor 1 associated periodic syndrome
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	575359	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Tumor necrosis factor receptor 1 associated periodic syndrome
Orphanet:271870	Orphanet:324924	\N	"" []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	575360	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Tumor necrosis factor receptor 1 associated periodic syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	1158337	\N	\N	EFO	3	EFO	Primary immunodeficiency	Tumor necrosis factor receptor 1 associated periodic syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	1158338	\N	\N	EFO	3	EFO	genetic disorder	Tumor necrosis factor receptor 1 associated periodic syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	2041553	\N	\N	EFO	4	EFO	Rare genetic immune disease	Tumor necrosis factor receptor 1 associated periodic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	4398446	\N	\N	EFO	6	EFO	disease	Tumor necrosis factor receptor 1 associated periodic syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	3191852	\N	\N	EFO	5	EFO	genetic disorder	Tumor necrosis factor receptor 1 associated periodic syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	3191853	\N	\N	EFO	5	EFO	immune system disease	Tumor necrosis factor receptor 1 associated periodic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	5060004	\N	\N	EFO	7	EFO	disposition	Tumor necrosis factor receptor 1 associated periodic syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	4398447	\N	\N	EFO	6	EFO	disease	Tumor necrosis factor receptor 1 associated periodic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	5877371	\N	\N	EFO	8	EFO	material property	Tumor necrosis factor receptor 1 associated periodic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:32960	"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." []	6470607	\N	\N	EFO	9	EFO	experimental factor	Tumor necrosis factor receptor 1 associated periodic syndrome
Orphanet:329802	\N	\N	"" []	Orphanet:329802	"" []	76704	\N	\N	EFO	0	EFO	5p13 microduplication syndrome	5p13 microduplication syndrome
Orphanet:102283	Orphanet:329802	\N	"" []	Orphanet:329802	"" []	219829	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	5p13 microduplication syndrome
Orphanet:183763	Orphanet:329802	\N	"" []	Orphanet:329802	"" []	219830	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	5p13 microduplication syndrome
Orphanet:262725	Orphanet:329802	\N	"" []	Orphanet:329802	"" []	219831	\N	\N	EFO	1	EFO	Partial trisomy/tetrasomy of the short arm of chromosome 5	5p13 microduplication syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:329802	"" []	575361	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	5p13 microduplication syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:329802	"" []	575362	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	5p13 microduplication syndrome
Orphanet:262211	Orphanet:262725	\N	"" []	Orphanet:329802	"" []	575363	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of chromosome 5	5p13 microduplication syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:329802	"" []	1158339	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	5p13 microduplication syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:329802	"" []	1158340	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	5p13 microduplication syndrome
Orphanet:98132	Orphanet:262211	\N	"" []	Orphanet:329802	"" []	1158341	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	5p13 microduplication syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329802	"" []	2041555	\N	\N	EFO	4	EFO	genetic disorder	5p13 microduplication syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329802	"" []	2041556	\N	\N	EFO	4	EFO	genetic disorder	5p13 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:329802	"" []	2041557	\N	\N	EFO	4	EFO	Autosomal trisomy	5p13 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329802	"" []	6151514	\N	\N	EFO	8	EFO	disease	5p13 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:329802	"" []	3191856	\N	\N	EFO	5	EFO	Autosomal anomaly	5p13 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329802	"" []	6410157	\N	\N	EFO	9	EFO	disposition	5p13 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:329802	"" []	4398450	\N	\N	EFO	6	EFO	Chromosomal anomaly	5p13 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329802	"" []	6807992	\N	\N	EFO	10	EFO	material property	5p13 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329802	"" []	5415684	\N	\N	EFO	7	EFO	genetic disorder	5p13 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329802	"" []	7048713	\N	\N	EFO	11	EFO	experimental factor	5p13 microduplication syndrome
Orphanet:329813	\N	\N	"" []	Orphanet:329813	"" []	76705	\N	\N	EFO	0	EFO	Mosaic genome-wide paternal uniparental disomy	Mosaic genome-wide paternal uniparental disomy
Orphanet:98152	Orphanet:329813	\N	"" []	Orphanet:329813	"" []	219832	\N	\N	EFO	1	EFO	Autosomal uniparental disomy	Mosaic genome-wide paternal uniparental disomy
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:329813	"" []	575364	\N	\N	EFO	2	EFO	Autosomal anomaly	Mosaic genome-wide paternal uniparental disomy
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:329813	"" []	1158342	\N	\N	EFO	3	EFO	Chromosomal anomaly	Mosaic genome-wide paternal uniparental disomy
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329813	"" []	2041558	\N	\N	EFO	4	EFO	genetic disorder	Mosaic genome-wide paternal uniparental disomy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329813	"" []	3191857	\N	\N	EFO	5	EFO	disease	Mosaic genome-wide paternal uniparental disomy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329813	"" []	4398451	\N	\N	EFO	6	EFO	disposition	Mosaic genome-wide paternal uniparental disomy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329813	"" []	5415685	\N	\N	EFO	7	EFO	material property	Mosaic genome-wide paternal uniparental disomy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329813	"" []	6151515	\N	\N	EFO	8	EFO	experimental factor	Mosaic genome-wide paternal uniparental disomy
Orphanet:329903	\N	\N	"" []	Orphanet:329903	"" []	76706	\N	\N	EFO	0	EFO	Immunoglobulin-mediated membranoproliferative glomerulonephritis	Immunoglobulin-mediated membranoproliferative glomerulonephritis
Orphanet:54370	Orphanet:329903	\N	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	Orphanet:329903	"" []	219833	\N	\N	EFO	1	EFO	Primary membranoproliferative glomerulonephritis	Immunoglobulin-mediated membranoproliferative glomerulonephritis
Orphanet:102373	Orphanet:54370	\N	"" []	Orphanet:329903	"" []	575365	\N	\N	EFO	2	EFO	Primary glomerular disease	Immunoglobulin-mediated membranoproliferative glomerulonephritis
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:329903	"" []	1158343	\N	\N	EFO	3	EFO	Genetic glomerular disease	Immunoglobulin-mediated membranoproliferative glomerulonephritis
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:329903	"" []	2041559	\N	\N	EFO	4	EFO	Rare genetic renal disease	Immunoglobulin-mediated membranoproliferative glomerulonephritis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329903	"" []	3191858	\N	\N	EFO	5	EFO	genetic disorder	Immunoglobulin-mediated membranoproliferative glomerulonephritis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329903	"" []	4398452	\N	\N	EFO	6	EFO	disease	Immunoglobulin-mediated membranoproliferative glomerulonephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329903	"" []	5415686	\N	\N	EFO	7	EFO	disposition	Immunoglobulin-mediated membranoproliferative glomerulonephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329903	"" []	6151516	\N	\N	EFO	8	EFO	material property	Immunoglobulin-mediated membranoproliferative glomerulonephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329903	"" []	6633688	\N	\N	EFO	9	EFO	experimental factor	Immunoglobulin-mediated membranoproliferative glomerulonephritis
Orphanet:329918	\N	\N	"" []	Orphanet:329918	"" []	76707	\N	\N	EFO	0	EFO	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
Orphanet:54370	Orphanet:329918	\N	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	Orphanet:329918	"" []	219834	\N	\N	EFO	1	EFO	Primary membranoproliferative glomerulonephritis	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
Orphanet:102373	Orphanet:54370	\N	"" []	Orphanet:329918	"" []	575366	\N	\N	EFO	2	EFO	Primary glomerular disease	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:329918	"" []	1158344	\N	\N	EFO	3	EFO	Genetic glomerular disease	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:329918	"" []	2041560	\N	\N	EFO	4	EFO	Rare genetic renal disease	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329918	"" []	3191859	\N	\N	EFO	5	EFO	genetic disorder	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329918	"" []	4398453	\N	\N	EFO	6	EFO	disease	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329918	"" []	5415687	\N	\N	EFO	7	EFO	disposition	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329918	"" []	6151517	\N	\N	EFO	8	EFO	material property	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329918	"" []	6633689	\N	\N	EFO	9	EFO	experimental factor	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
Orphanet:329931	\N	\N	"" []	Orphanet:329931	"" []	76708	\N	\N	EFO	0	EFO	C3 glomerulonephritis	C3 glomerulonephritis
Orphanet:329918	Orphanet:329931	\N	"" []	Orphanet:329931	"" []	219835	\N	\N	EFO	1	EFO	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis	C3 glomerulonephritis
Orphanet:54370	Orphanet:329918	\N	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	Orphanet:329931	"" []	575367	\N	\N	EFO	2	EFO	Primary membranoproliferative glomerulonephritis	C3 glomerulonephritis
Orphanet:102373	Orphanet:54370	\N	"" []	Orphanet:329931	"" []	1158345	\N	\N	EFO	3	EFO	Primary glomerular disease	C3 glomerulonephritis
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:329931	"" []	2041561	\N	\N	EFO	4	EFO	Genetic glomerular disease	C3 glomerulonephritis
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:329931	"" []	3191860	\N	\N	EFO	5	EFO	Rare genetic renal disease	C3 glomerulonephritis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329931	"" []	4398454	\N	\N	EFO	6	EFO	genetic disorder	C3 glomerulonephritis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329931	"" []	5415688	\N	\N	EFO	7	EFO	disease	C3 glomerulonephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329931	"" []	6151518	\N	\N	EFO	8	EFO	disposition	C3 glomerulonephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329931	"" []	6633690	\N	\N	EFO	9	EFO	material property	C3 glomerulonephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329931	"" []	6926094	\N	\N	EFO	10	EFO	experimental factor	C3 glomerulonephritis
Orphanet:329942	\N	\N	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	76709	\N	\N	EFO	0	EFO	Transient neonatal multiple acyl-CoA dehydrogenase deficiency	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Orphanet:309120	Orphanet:329942	\N	"" []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	219836	\N	\N	EFO	1	EFO	Acyl-CoA dehydrogenase deficiency	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Orphanet:309115	Orphanet:309120	\N	"" []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	575368	\N	\N	EFO	2	EFO	Disorder of mitochondrial fatty acid oxidation	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	1158346	\N	\N	EFO	3	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	2041562	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	3191861	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	4398455	\N	\N	EFO	6	EFO	genetic disorder	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	4398456	\N	\N	EFO	6	EFO	metabolic disease	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	5415689	\N	\N	EFO	7	EFO	disease	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	5415690	\N	\N	EFO	7	EFO	disease	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	6151519	\N	\N	EFO	8	EFO	disposition	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	6633691	\N	\N	EFO	9	EFO	material property	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329942	"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." []	6926095	\N	\N	EFO	10	EFO	experimental factor	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Orphanet:329967	\N	\N	"" []	Orphanet:329967	"" []	76710	\N	\N	EFO	0	EFO	Intermittent hydrarthrosis	Intermittent hydrarthrosis
Orphanet:271870	Orphanet:329967	\N	"" []	Orphanet:329967	"" []	219837	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	Intermittent hydrarthrosis
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329967	"" []	575369	\N	\N	EFO	2	EFO	genetic disorder	Intermittent hydrarthrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329967	"" []	1158347	\N	\N	EFO	3	EFO	disease	Intermittent hydrarthrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329967	"" []	2041563	\N	\N	EFO	4	EFO	disposition	Intermittent hydrarthrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329967	"" []	3191862	\N	\N	EFO	5	EFO	material property	Intermittent hydrarthrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329967	"" []	4398457	\N	\N	EFO	6	EFO	experimental factor	Intermittent hydrarthrosis
Orphanet:329971	\N	\N	"" []	Orphanet:329971	"" []	76711	\N	\N	EFO	0	EFO	Generalized juvenile polyposis/juvenile polyposis coli	Generalized juvenile polyposis/juvenile polyposis coli
Orphanet:2929	Orphanet:329971	\N	"" []	Orphanet:329971	"" []	219838	\N	\N	EFO	1	EFO	Juvenile polyposis syndrome	Generalized juvenile polyposis/juvenile polyposis coli
Orphanet:140162	Orphanet:2929	\N	"" []	Orphanet:329971	"" []	575370	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Generalized juvenile polyposis/juvenile polyposis coli
Orphanet:363314	Orphanet:2929	\N	"" []	Orphanet:329971	"" []	575371	\N	\N	EFO	2	EFO	Genetic intestinal polyposis	Generalized juvenile polyposis/juvenile polyposis coli
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329971	"" []	1158348	\N	\N	EFO	3	EFO	genetic disorder	Generalized juvenile polyposis/juvenile polyposis coli
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:329971	"" []	1158349	\N	\N	EFO	3	EFO	Genetic intestinal disease	Generalized juvenile polyposis/juvenile polyposis coli
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329971	"" []	4398460	\N	\N	EFO	6	EFO	disease	Generalized juvenile polyposis/juvenile polyposis coli
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:329971	"" []	2041565	\N	\N	EFO	4	EFO	digestive system disease	Generalized juvenile polyposis/juvenile polyposis coli
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:329971	"" []	2041566	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Generalized juvenile polyposis/juvenile polyposis coli
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:329971	"" []	5060005	\N	\N	EFO	7	EFO	disposition	Generalized juvenile polyposis/juvenile polyposis coli
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:329971	"" []	3191864	\N	\N	EFO	5	EFO	disease	Generalized juvenile polyposis/juvenile polyposis coli
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:329971	"" []	3191865	\N	\N	EFO	5	EFO	genetic disorder	Generalized juvenile polyposis/juvenile polyposis coli
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:329971	"" []	5877372	\N	\N	EFO	8	EFO	material property	Generalized juvenile polyposis/juvenile polyposis coli
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:329971	"" []	6470608	\N	\N	EFO	9	EFO	experimental factor	Generalized juvenile polyposis/juvenile polyposis coli
Orphanet:33	\N	\N	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	Orphanet:33	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	76712	\N	\N	EFO	0	EFO	Isovaleric acidemia	Isovaleric acidemia
Orphanet:79163	Orphanet:33	\N	"" []	Orphanet:33	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	219839	\N	\N	EFO	1	EFO	Classic organic aciduria	Isovaleric acidemia
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:33	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	575372	\N	\N	EFO	2	EFO	Organic aciduria	Isovaleric acidemia
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:33	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	1158350	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Isovaleric acidemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:33	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	2041567	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Isovaleric acidemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	3191866	\N	\N	EFO	5	EFO	genetic disorder	Isovaleric acidemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:33	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	3191867	\N	\N	EFO	5	EFO	metabolic disease	Isovaleric acidemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	4398461	\N	\N	EFO	6	EFO	disease	Isovaleric acidemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	4398462	\N	\N	EFO	6	EFO	disease	Isovaleric acidemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:33	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	5415692	\N	\N	EFO	7	EFO	disposition	Isovaleric acidemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:33	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	6151520	\N	\N	EFO	8	EFO	material property	Isovaleric acidemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:33	"Isovaleric acidemia (IVA) is a an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase that has wide clinical variability, and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis, brought on by prolonged fasting, an increased intake of protein-rich foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported." []	6633692	\N	\N	EFO	9	EFO	experimental factor	Isovaleric acidemia
Orphanet:330	\N	\N	"Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." []	Orphanet:330	"Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." []	76713	\N	\N	EFO	0	EFO	Congenital factor XII deficiency	Congenital factor XII deficiency
Orphanet:68334	Orphanet:330	\N	"" []	Orphanet:330	"Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." []	219840	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital factor XII deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:330	"Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." []	575373	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Congenital factor XII deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:330	"Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." []	1158351	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital factor XII deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330	"Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." []	2041568	\N	\N	EFO	4	EFO	genetic disorder	Congenital factor XII deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:330	"Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." []	2041569	\N	\N	EFO	4	EFO	hematological system disease	Congenital factor XII deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330	"Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." []	3191868	\N	\N	EFO	5	EFO	disease	Congenital factor XII deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330	"Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." []	3191869	\N	\N	EFO	5	EFO	disease	Congenital factor XII deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:330	"Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." []	4398463	\N	\N	EFO	6	EFO	disposition	Congenital factor XII deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:330	"Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." []	5415693	\N	\N	EFO	7	EFO	material property	Congenital factor XII deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:330	"Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." []	6151521	\N	\N	EFO	8	EFO	experimental factor	Congenital factor XII deficiency
Orphanet:33001	\N	\N	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	76714	\N	\N	EFO	0	EFO	Lymphedema - distichiasis	Lymphedema - distichiasis
Orphanet:89832	Orphanet:33001	\N	"" []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	219841	\N	\N	EFO	1	EFO	Syndromic lymphedema	Lymphedema - distichiasis
Orphanet:98571	Orphanet:33001	\N	"" []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	219842	\N	\N	EFO	1	EFO	Secondary ectropion	Lymphedema - distichiasis
Orphanet:98600	Orphanet:33001	\N	"" []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	219843	\N	\N	EFO	1	EFO	Eyebrow/eyelashes distichiasis	Lymphedema - distichiasis
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	575374	\N	\N	EFO	2	EFO	Lymphedema	Lymphedema - distichiasis
Orphanet:98567	Orphanet:98571	\N	"" []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	575375	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Lymphedema - distichiasis
Orphanet:98594	Orphanet:98600	\N	"" []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	575376	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Lymphedema - distichiasis
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	1158352	\N	\N	EFO	3	EFO	Rare genetic skin disease	Lymphedema - distichiasis
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	1158353	\N	\N	EFO	3	EFO	Rare palpebral disease	Lymphedema - distichiasis
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	1158354	\N	\N	EFO	3	EFO	Rare palpebral disease	Lymphedema - distichiasis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	2041570	\N	\N	EFO	4	EFO	genetic disorder	Lymphedema - distichiasis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	2041571	\N	\N	EFO	4	EFO	skin disease	Lymphedema - distichiasis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	2041572	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Lymphedema - distichiasis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	5415695	\N	\N	EFO	7	EFO	disease	Lymphedema - distichiasis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	3191871	\N	\N	EFO	5	EFO	disease	Lymphedema - distichiasis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	3191872	\N	\N	EFO	5	EFO	Rare genetic eye disease	Lymphedema - distichiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	5877373	\N	\N	EFO	8	EFO	disposition	Lymphedema - distichiasis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	4398465	\N	\N	EFO	6	EFO	genetic disorder	Lymphedema - distichiasis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	4398466	\N	\N	EFO	6	EFO	eye disease	Lymphedema - distichiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	6470609	\N	\N	EFO	9	EFO	material property	Lymphedema - distichiasis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	5415696	\N	\N	EFO	7	EFO	disease	Lymphedema - distichiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:33001	"Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." []	6848625	\N	\N	EFO	10	EFO	experimental factor	Lymphedema - distichiasis
Orphanet:330029	\N	\N	"" []	Orphanet:330029	"" []	76715	\N	\N	EFO	0	EFO	Hypotrichosis-deafness syndrome	Hypotrichosis-deafness syndrome
Orphanet:308166	Orphanet:330029	\N	"" []	Orphanet:330029	"" []	219844	\N	\N	EFO	1	EFO	Erythrokeratoderma variabilis progressiva	Hypotrichosis-deafness syndrome
Orphanet:79364	Orphanet:330029	\N	"" []	Orphanet:330029	"" []	219845	\N	\N	EFO	1	EFO	Alopecia	Hypotrichosis-deafness syndrome
Orphanet:79370	Orphanet:330029	\N	"" []	Orphanet:330029	"" []	219846	\N	\N	EFO	1	EFO	Syndromic nail anomaly	Hypotrichosis-deafness syndrome
Orphanet:90642	Orphanet:330029	\N	"" []	Orphanet:330029	"" []	219847	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Hypotrichosis-deafness syndrome
Orphanet:183438	Orphanet:308166	\N	"" []	Orphanet:330029	"" []	575377	\N	\N	EFO	2	EFO	Genetic erythrokeratoderma	Hypotrichosis-deafness syndrome
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:330029	"" []	575378	\N	\N	EFO	2	EFO	Genetic hair anomaly	Hypotrichosis-deafness syndrome
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:330029	"" []	575379	\N	\N	EFO	2	EFO	Genetic nail anomaly	Hypotrichosis-deafness syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:330029	"" []	575380	\N	\N	EFO	2	EFO	Rare genetic deafness	Hypotrichosis-deafness syndrome
Orphanet:183426	Orphanet:183438	\N	"" []	Orphanet:330029	"" []	1158355	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Hypotrichosis-deafness syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:330029	"" []	1158356	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Hypotrichosis-deafness syndrome
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:330029	"" []	1158357	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Hypotrichosis-deafness syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330029	"" []	1158358	\N	\N	EFO	3	EFO	genetic disorder	Hypotrichosis-deafness syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:330029	"" []	1158359	\N	\N	EFO	3	EFO	auditory system disease	Hypotrichosis-deafness syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:330029	"" []	2041573	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hypotrichosis-deafness syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:330029	"" []	2041574	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hypotrichosis-deafness syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330029	"" []	4398467	\N	\N	EFO	6	EFO	disease	Hypotrichosis-deafness syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:330029	"" []	2041576	\N	\N	EFO	4	EFO	sensory system disease	Hypotrichosis-deafness syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330029	"" []	3191873	\N	\N	EFO	5	EFO	genetic disorder	Hypotrichosis-deafness syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:330029	"" []	3191874	\N	\N	EFO	5	EFO	skin disease	Hypotrichosis-deafness syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:330029	"" []	5060006	\N	\N	EFO	7	EFO	disposition	Hypotrichosis-deafness syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:330029	"" []	3191876	\N	\N	EFO	5	EFO	nervous system disease	Hypotrichosis-deafness syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330029	"" []	4398468	\N	\N	EFO	6	EFO	disease	Hypotrichosis-deafness syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:330029	"" []	5877374	\N	\N	EFO	8	EFO	material property	Hypotrichosis-deafness syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330029	"" []	4398470	\N	\N	EFO	6	EFO	disease	Hypotrichosis-deafness syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:330029	"" []	6470610	\N	\N	EFO	9	EFO	experimental factor	Hypotrichosis-deafness syndrome
Orphanet:330032	\N	\N	"" []	Orphanet:330032	"" []	76716	\N	\N	EFO	0	EFO	Hemoglobin Lepore - beta-thalassemia	Hemoglobin Lepore - beta-thalassemia
Orphanet:231230	Orphanet:330032	\N	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	Orphanet:330032	"" []	219848	\N	\N	EFO	1	EFO	Beta-thalassemia associated with another hemoglobin anomaly	Hemoglobin Lepore - beta-thalassemia
Orphanet:275749	Orphanet:231230	\N	"" []	Orphanet:330032	"" []	575381	\N	\N	EFO	2	EFO	Beta-thalassemia and related diseases	Hemoglobin Lepore - beta-thalassemia
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:330032	"" []	1158360	\N	\N	EFO	3	EFO	Thalassemia	Hemoglobin Lepore - beta-thalassemia
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:330032	"" []	2041577	\N	\N	EFO	4	EFO	Hemoglobinopathy	Hemoglobin Lepore - beta-thalassemia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:330032	"" []	3191877	\N	\N	EFO	5	EFO	Rare constitutional anemia	Hemoglobin Lepore - beta-thalassemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:330032	"" []	4398471	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Hemoglobin Lepore - beta-thalassemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330032	"" []	5415698	\N	\N	EFO	7	EFO	genetic disorder	Hemoglobin Lepore - beta-thalassemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:330032	"" []	5415699	\N	\N	EFO	7	EFO	hematological system disease	Hemoglobin Lepore - beta-thalassemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330032	"" []	6151523	\N	\N	EFO	8	EFO	disease	Hemoglobin Lepore - beta-thalassemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330032	"" []	6151524	\N	\N	EFO	8	EFO	disease	Hemoglobin Lepore - beta-thalassemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:330032	"" []	6633693	\N	\N	EFO	9	EFO	disposition	Hemoglobin Lepore - beta-thalassemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:330032	"" []	6926096	\N	\N	EFO	10	EFO	material property	Hemoglobin Lepore - beta-thalassemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:330032	"" []	7099269	\N	\N	EFO	11	EFO	experimental factor	Hemoglobin Lepore - beta-thalassemia
Orphanet:330041	\N	\N	"" []	Orphanet:330041	"" []	76717	\N	\N	EFO	0	EFO	Autosomal dominant methemoglobinemia	Autosomal dominant methemoglobinemia
Orphanet:621	Orphanet:330041	\N	"" []	Orphanet:330041	"" []	219849	\N	\N	EFO	1	EFO	Hereditary methemoglobinemia	Autosomal dominant methemoglobinemia
Orphanet:68364	Orphanet:621	\N	"" []	Orphanet:330041	"" []	575382	\N	\N	EFO	2	EFO	Hemoglobinopathy	Autosomal dominant methemoglobinemia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:330041	"" []	1158361	\N	\N	EFO	3	EFO	Rare constitutional anemia	Autosomal dominant methemoglobinemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:330041	"" []	2041578	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Autosomal dominant methemoglobinemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330041	"" []	3191878	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant methemoglobinemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:330041	"" []	3191879	\N	\N	EFO	5	EFO	hematological system disease	Autosomal dominant methemoglobinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330041	"" []	4398472	\N	\N	EFO	6	EFO	disease	Autosomal dominant methemoglobinemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330041	"" []	4398473	\N	\N	EFO	6	EFO	disease	Autosomal dominant methemoglobinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:330041	"" []	5415700	\N	\N	EFO	7	EFO	disposition	Autosomal dominant methemoglobinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:330041	"" []	6151525	\N	\N	EFO	8	EFO	material property	Autosomal dominant methemoglobinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:330041	"" []	6633694	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant methemoglobinemia
Orphanet:330050	\N	\N	"" []	Orphanet:330050	"" []	76718	\N	\N	EFO	0	EFO	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Orphanet:254822	Orphanet:330050	\N	"" []	Orphanet:330050	"" []	219850	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder with no known mechanism	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Orphanet:68385	Orphanet:330050	\N	"" []	Orphanet:330050	"" []	219851	\N	\N	EFO	1	EFO	Neurometabolic disease	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Orphanet:2443	Orphanet:254822	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:330050	"" []	575383	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:330050	"" []	575384	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:330050	"" []	1158362	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330050	"" []	1158363	\N	\N	EFO	3	EFO	genetic disorder	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:330050	"" []	2041579	\N	\N	EFO	4	EFO	Mitochondrial disease	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330050	"" []	6151526	\N	\N	EFO	8	EFO	disease	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:330050	"" []	3191880	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:330050	"" []	3191881	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:330050	"" []	6378930	\N	\N	EFO	9	EFO	disposition	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:330050	"" []	4398474	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:330050	"" []	4398475	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:330050	"" []	6778747	\N	\N	EFO	10	EFO	material property	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330050	"" []	5415701	\N	\N	EFO	7	EFO	genetic disorder	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330050	"" []	5415702	\N	\N	EFO	7	EFO	genetic disorder	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:330050	"" []	5415703	\N	\N	EFO	7	EFO	metabolic disease	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:330050	"" []	7029943	\N	\N	EFO	11	EFO	experimental factor	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330050	"" []	6151527	\N	\N	EFO	8	EFO	disease	Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Orphanet:330054	\N	\N	"" []	Orphanet:330054	"" []	76719	\N	\N	EFO	0	EFO	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:206966	Orphanet:330054	\N	"" []	Orphanet:330054	"" []	219852	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:2443	Orphanet:330054	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:330054	"" []	219853	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:90642	Orphanet:330054	\N	"" []	Orphanet:330054	"" []	219854	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:98641	Orphanet:330054	\N	"" []	Orphanet:330054	"" []	219855	\N	\N	EFO	1	EFO	Syndromic cataract	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:330054	"" []	575385	\N	\N	EFO	2	EFO	Muscular lipidosis	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:330054	"" []	575386	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:330054	"" []	575387	\N	\N	EFO	2	EFO	Rare genetic deafness	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:330054	"" []	575388	\N	\N	EFO	2	EFO	Rare cataract	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:330054	"" []	1158364	\N	\N	EFO	3	EFO	Metabolic myopathy	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:330054	"" []	1158365	\N	\N	EFO	3	EFO	Mitochondrial disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330054	"" []	1158366	\N	\N	EFO	3	EFO	genetic disorder	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:330054	"" []	1158367	\N	\N	EFO	3	EFO	auditory system disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:330054	"" []	1158368	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:330054	"" []	2041581	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:330054	"" []	2041582	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:330054	"" []	2041583	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330054	"" []	6633696	\N	\N	EFO	9	EFO	disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:330054	"" []	2041585	\N	\N	EFO	4	EFO	sensory system disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:330054	"" []	2041586	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:330054	"" []	3191883	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:330054	"" []	3191884	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:330054	"" []	3191885	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:330054	"" []	6762388	\N	\N	EFO	10	EFO	disposition	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:330054	"" []	3191887	\N	\N	EFO	5	EFO	nervous system disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330054	"" []	3191888	\N	\N	EFO	5	EFO	genetic disorder	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:330054	"" []	3191889	\N	\N	EFO	5	EFO	eye disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:330054	"" []	4398477	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330054	"" []	4398478	\N	\N	EFO	6	EFO	genetic disorder	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330054	"" []	4398479	\N	\N	EFO	6	EFO	genetic disorder	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:330054	"" []	4398480	\N	\N	EFO	6	EFO	metabolic disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:330054	"" []	7015699	\N	\N	EFO	11	EFO	material property	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330054	"" []	4398482	\N	\N	EFO	6	EFO	disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330054	"" []	4398484	\N	\N	EFO	6	EFO	disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:330054	"" []	5415705	\N	\N	EFO	7	EFO	muscular disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:330054	"" []	5415706	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330054	"" []	5415708	\N	\N	EFO	7	EFO	disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:330054	"" []	7173647	\N	\N	EFO	12	EFO	experimental factor	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:330054	"" []	6151528	\N	\N	EFO	8	EFO	skeletal system disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330054	"" []	6151529	\N	\N	EFO	8	EFO	genetic disorder	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330054	"" []	6633695	\N	\N	EFO	9	EFO	disease	Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Orphanet:3301	\N	\N	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	76720	\N	\N	EFO	0	EFO	Tetraamelia - multiple malformations	Tetraamelia - multiple malformations
Orphanet:330206	Orphanet:3301	\N	"" []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	219856	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Tetraamelia - multiple malformations
Orphanet:404574	Orphanet:3301	\N	"" []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	219857	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Tetraamelia - multiple malformations
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	575389	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Tetraamelia - multiple malformations
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	575390	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Tetraamelia - multiple malformations
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	575391	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Tetraamelia - multiple malformations
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	1158369	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Tetraamelia - multiple malformations
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	1158370	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Tetraamelia - multiple malformations
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	1158371	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Tetraamelia - multiple malformations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	4398487	\N	\N	EFO	6	EFO	genetic disorder	Tetraamelia - multiple malformations
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	2041588	\N	\N	EFO	4	EFO	Rare genetic bone disease	Tetraamelia - multiple malformations
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	2041589	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Tetraamelia - multiple malformations
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	2041590	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Tetraamelia - multiple malformations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	5060008	\N	\N	EFO	7	EFO	disease	Tetraamelia - multiple malformations
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	3191891	\N	\N	EFO	5	EFO	genetic disorder	Tetraamelia - multiple malformations
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	3191892	\N	\N	EFO	5	EFO	bone disease	Tetraamelia - multiple malformations
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	3191893	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Tetraamelia - multiple malformations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	5877376	\N	\N	EFO	8	EFO	disposition	Tetraamelia - multiple malformations
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	4398486	\N	\N	EFO	6	EFO	skeletal system disease	Tetraamelia - multiple malformations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	6470612	\N	\N	EFO	9	EFO	material property	Tetraamelia - multiple malformations
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	5415711	\N	\N	EFO	7	EFO	disease	Tetraamelia - multiple malformations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3301	"Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." []	6848626	\N	\N	EFO	10	EFO	experimental factor	Tetraamelia - multiple malformations
Orphanet:330197	\N	\N	"" []	Orphanet:330197	"" []	76721	\N	\N	EFO	0	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:330197	"" []	219858	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:330197	"" []	575392	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330197	"" []	1158372	\N	\N	EFO	3	EFO	genetic disorder	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330197	"" []	2041591	\N	\N	EFO	4	EFO	disease	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:330197	"" []	3191895	\N	\N	EFO	5	EFO	disposition	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:330197	"" []	4398488	\N	\N	EFO	6	EFO	material property	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:330197	"" []	5415712	\N	\N	EFO	7	EFO	experimental factor	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
Orphanet:330206	\N	\N	"" []	Orphanet:330206	"" []	76722	\N	\N	EFO	0	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:330206	"" []	219859	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:330206	"" []	575393	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:330206	"" []	1158373	\N	\N	EFO	3	EFO	genetic disorder	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:330206	"" []	2041592	\N	\N	EFO	4	EFO	disease	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:330206	"" []	3191896	\N	\N	EFO	5	EFO	disposition	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:330206	"" []	4398489	\N	\N	EFO	6	EFO	material property	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:330206	"" []	5415713	\N	\N	EFO	7	EFO	experimental factor	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Orphanet:3304	\N	\N	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	76723	\N	\N	EFO	0	EFO	Fallot complex - intellectual disability - growth delay	Fallot complex - intellectual disability - growth delay
Orphanet:102283	Orphanet:3304	\N	"" []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	219860	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Fallot complex - intellectual disability - growth delay
Orphanet:183763	Orphanet:3304	\N	"" []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	219861	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Fallot complex - intellectual disability - growth delay
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	575394	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Fallot complex - intellectual disability - growth delay
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	575395	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Fallot complex - intellectual disability - growth delay
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	1158374	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fallot complex - intellectual disability - growth delay
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	1158375	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Fallot complex - intellectual disability - growth delay
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	2041593	\N	\N	EFO	4	EFO	genetic disorder	Fallot complex - intellectual disability - growth delay
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	2041594	\N	\N	EFO	4	EFO	genetic disorder	Fallot complex - intellectual disability - growth delay
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	3191897	\N	\N	EFO	5	EFO	disease	Fallot complex - intellectual disability - growth delay
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	4398490	\N	\N	EFO	6	EFO	disposition	Fallot complex - intellectual disability - growth delay
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	5415714	\N	\N	EFO	7	EFO	material property	Fallot complex - intellectual disability - growth delay
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3304	"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." []	6151531	\N	\N	EFO	8	EFO	experimental factor	Fallot complex - intellectual disability - growth delay
Orphanet:3305	\N	\N	"" []	Orphanet:3305	"" []	76724	\N	\N	EFO	0	EFO	Tetraploidy	Tetraploidy
Orphanet:96321	Orphanet:3305	\N	"" []	Orphanet:3305	"" []	219862	\N	\N	EFO	1	EFO	Polyploidy	Tetraploidy
Orphanet:68335	Orphanet:96321	\N	"" []	Orphanet:3305	"" []	575396	\N	\N	EFO	2	EFO	Chromosomal anomaly	Tetraploidy
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3305	"" []	1158376	\N	\N	EFO	3	EFO	genetic disorder	Tetraploidy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3305	"" []	2041595	\N	\N	EFO	4	EFO	disease	Tetraploidy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3305	"" []	3191898	\N	\N	EFO	5	EFO	disposition	Tetraploidy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3305	"" []	4398491	\N	\N	EFO	6	EFO	material property	Tetraploidy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3305	"" []	5415715	\N	\N	EFO	7	EFO	experimental factor	Tetraploidy
Orphanet:3306	\N	\N	"" []	Orphanet:3306	"" []	76725	\N	\N	EFO	0	EFO	Duplication/inversion 15q11	Duplication/inversion 15q11
Orphanet:180772	Orphanet:3306	\N	"" []	Orphanet:3306	"" []	219863	\N	\N	EFO	1	EFO	Rare disease with autism	Duplication/inversion 15q11
Orphanet:263708	Orphanet:3306	\N	"" []	Orphanet:3306	"" []	219864	\N	\N	EFO	1	EFO	Complex chromosomal rearrangement	Duplication/inversion 15q11
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:3306	"" []	575397	\N	\N	EFO	2	EFO	Rare pervasive developmental disorder	Duplication/inversion 15q11
Orphanet:98127	Orphanet:263708	\N	"" []	Orphanet:3306	"" []	575398	\N	\N	EFO	2	EFO	Autosomal anomaly	Duplication/inversion 15q11
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:3306	"" []	1158377	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Duplication/inversion 15q11
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:3306	"" []	1158378	\N	\N	EFO	3	EFO	Chromosomal anomaly	Duplication/inversion 15q11
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3306	"" []	2041596	\N	\N	EFO	4	EFO	genetic disorder	Duplication/inversion 15q11
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3306	"" []	2041597	\N	\N	EFO	4	EFO	genetic disorder	Duplication/inversion 15q11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3306	"" []	3191899	\N	\N	EFO	5	EFO	disease	Duplication/inversion 15q11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3306	"" []	4398492	\N	\N	EFO	6	EFO	disposition	Duplication/inversion 15q11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3306	"" []	5415716	\N	\N	EFO	7	EFO	material property	Duplication/inversion 15q11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3306	"" []	6151532	\N	\N	EFO	8	EFO	experimental factor	Duplication/inversion 15q11
Orphanet:33067	\N	\N	"" []	Orphanet:33067	"" []	76726	\N	\N	EFO	0	EFO	Metaphyseal chondrodysplasia, Jansen type	Metaphyseal chondrodysplasia, Jansen type
Orphanet:93430	Orphanet:33067	\N	"" []	Orphanet:33067	"" []	219865	\N	\N	EFO	1	EFO	Multiple metaphyseal dysplasia	Metaphyseal chondrodysplasia, Jansen type
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:33067	"" []	575399	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metaphyseal chondrodysplasia, Jansen type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:33067	"" []	1158379	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metaphyseal chondrodysplasia, Jansen type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:33067	"" []	1158380	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metaphyseal chondrodysplasia, Jansen type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33067	"" []	2041598	\N	\N	EFO	4	EFO	genetic disorder	Metaphyseal chondrodysplasia, Jansen type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:33067	"" []	2041599	\N	\N	EFO	4	EFO	bone disease	Metaphyseal chondrodysplasia, Jansen type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:33067	"" []	2041600	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metaphyseal chondrodysplasia, Jansen type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33067	"" []	4398495	\N	\N	EFO	6	EFO	disease	Metaphyseal chondrodysplasia, Jansen type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:33067	"" []	3191901	\N	\N	EFO	5	EFO	skeletal system disease	Metaphyseal chondrodysplasia, Jansen type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33067	"" []	3191902	\N	\N	EFO	5	EFO	genetic disorder	Metaphyseal chondrodysplasia, Jansen type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:33067	"" []	5182727	\N	\N	EFO	7	EFO	disposition	Metaphyseal chondrodysplasia, Jansen type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33067	"" []	4398494	\N	\N	EFO	6	EFO	disease	Metaphyseal chondrodysplasia, Jansen type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:33067	"" []	5998099	\N	\N	EFO	8	EFO	material property	Metaphyseal chondrodysplasia, Jansen type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:33067	"" []	6551387	\N	\N	EFO	9	EFO	experimental factor	Metaphyseal chondrodysplasia, Jansen type
Orphanet:33069	\N	\N	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	76727	\N	\N	EFO	0	EFO	Dravet syndrome	Dravet syndrome
EFO:0000474	Orphanet:33069	\N	"A disorder characterized by recurrent seizures" []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	219866	\N	\N	EFO	1	EFO	epilepsy	Dravet syndrome
Orphanet:182083	Orphanet:33069	\N	"" []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	219867	\N	\N	EFO	1	EFO	Channelopathy with epilepsy	Dravet syndrome
Orphanet:98258	Orphanet:33069	\N	"" []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	219868	\N	\N	EFO	1	EFO	Infantile epilepsy syndrome	Dravet syndrome
EFO:0005774	EFO:0000474	\N	"A disease affecting the brain or part of the brain." []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	575400	\N	\N	EFO	2	EFO	brain disease	Dravet syndrome
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	575401	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Dravet syndrome
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	575402	\N	\N	EFO	2	EFO	Epilepsy syndrome	Dravet syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	1158381	\N	\N	EFO	3	EFO	nervous system disease	Dravet syndrome
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	1158382	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Dravet syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	1158383	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Dravet syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	2041601	\N	\N	EFO	4	EFO	disease	Dravet syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	2041602	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Dravet syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	5415719	\N	\N	EFO	7	EFO	disposition	Dravet syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	3191904	\N	\N	EFO	5	EFO	genetic disorder	Dravet syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	5877377	\N	\N	EFO	8	EFO	material property	Dravet syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	4398497	\N	\N	EFO	6	EFO	disease	Dravet syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:33069	"Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." []	6470613	\N	\N	EFO	9	EFO	experimental factor	Dravet syndrome
Orphanet:3307	\N	\N	"" []	Orphanet:3307	"" []	76728	\N	\N	EFO	0	EFO	Tetrasomy 18p	Tetrasomy 18p
Orphanet:262812	Orphanet:3307	\N	"" []	Orphanet:3307	"" []	219869	\N	\N	EFO	1	EFO	Partial trisomy/tetrasomy of the short arm of chromosome 18	Tetrasomy 18p
Orphanet:262682	Orphanet:262812	\N	"" []	Orphanet:3307	"" []	575403	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of chromosome 18	Tetrasomy 18p
Orphanet:98132	Orphanet:262682	\N	"" []	Orphanet:3307	"" []	1158384	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Tetrasomy 18p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:3307	"" []	2041603	\N	\N	EFO	4	EFO	Autosomal trisomy	Tetrasomy 18p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:3307	"" []	3191905	\N	\N	EFO	5	EFO	Autosomal anomaly	Tetrasomy 18p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:3307	"" []	4398498	\N	\N	EFO	6	EFO	Chromosomal anomaly	Tetrasomy 18p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3307	"" []	5415720	\N	\N	EFO	7	EFO	genetic disorder	Tetrasomy 18p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3307	"" []	6151534	\N	\N	EFO	8	EFO	disease	Tetrasomy 18p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3307	"" []	6633697	\N	\N	EFO	9	EFO	disposition	Tetrasomy 18p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3307	"" []	6926097	\N	\N	EFO	10	EFO	material property	Tetrasomy 18p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3307	"" []	7099270	\N	\N	EFO	11	EFO	experimental factor	Tetrasomy 18p
Orphanet:3309	\N	\N	"" []	Orphanet:3309	"" []	76729	\N	\N	EFO	0	EFO	Tetrasomy 5p	Tetrasomy 5p
Orphanet:1742	Orphanet:3309	\N	"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." []	Orphanet:3309	"" []	219870	\N	\N	EFO	1	EFO	Trisomy 5p	Tetrasomy 5p
Orphanet:262725	Orphanet:1742	\N	"" []	Orphanet:3309	"" []	575404	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of the short arm of chromosome 5	Tetrasomy 5p
Orphanet:262211	Orphanet:262725	\N	"" []	Orphanet:3309	"" []	1158385	\N	\N	EFO	3	EFO	Partial trisomy/tetrasomy of chromosome 5	Tetrasomy 5p
Orphanet:98132	Orphanet:262211	\N	"" []	Orphanet:3309	"" []	2041604	\N	\N	EFO	4	EFO	Partial autosomal trisomy/tetrasomy	Tetrasomy 5p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:3309	"" []	3191906	\N	\N	EFO	5	EFO	Autosomal trisomy	Tetrasomy 5p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:3309	"" []	4398499	\N	\N	EFO	6	EFO	Autosomal anomaly	Tetrasomy 5p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:3309	"" []	5415721	\N	\N	EFO	7	EFO	Chromosomal anomaly	Tetrasomy 5p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3309	"" []	6151535	\N	\N	EFO	8	EFO	genetic disorder	Tetrasomy 5p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3309	"" []	6633698	\N	\N	EFO	9	EFO	disease	Tetrasomy 5p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3309	"" []	6926098	\N	\N	EFO	10	EFO	disposition	Tetrasomy 5p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3309	"" []	7099271	\N	\N	EFO	11	EFO	material property	Tetrasomy 5p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3309	"" []	7208348	\N	\N	EFO	12	EFO	experimental factor	Tetrasomy 5p
Orphanet:331	\N	\N	"" []	Orphanet:331	"" []	76730	\N	\N	EFO	0	EFO	Congenital factor XIII deficiency	Congenital factor XIII deficiency
Orphanet:68334	Orphanet:331	\N	"" []	Orphanet:331	"" []	219871	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital factor XIII deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:331	"" []	575405	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Congenital factor XIII deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:331	"" []	1158386	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital factor XIII deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331	"" []	2041605	\N	\N	EFO	4	EFO	genetic disorder	Congenital factor XIII deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:331	"" []	2041606	\N	\N	EFO	4	EFO	hematological system disease	Congenital factor XIII deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331	"" []	3191907	\N	\N	EFO	5	EFO	disease	Congenital factor XIII deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331	"" []	3191908	\N	\N	EFO	5	EFO	disease	Congenital factor XIII deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331	"" []	4398500	\N	\N	EFO	6	EFO	disposition	Congenital factor XIII deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331	"" []	5415722	\N	\N	EFO	7	EFO	material property	Congenital factor XIII deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331	"" []	6151536	\N	\N	EFO	8	EFO	experimental factor	Congenital factor XIII deficiency
Orphanet:3310	\N	\N	"" []	Orphanet:3310	"" []	76731	\N	\N	EFO	0	EFO	Tetrasomy 9p	Tetrasomy 9p
Orphanet:262767	Orphanet:3310	\N	"" []	Orphanet:3310	"" []	219872	\N	\N	EFO	1	EFO	Partial trisomy of the short arm of chromosome 9	Tetrasomy 9p
Orphanet:262643	Orphanet:262767	\N	"" []	Orphanet:3310	"" []	575406	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of chromosome 9	Tetrasomy 9p
Orphanet:98132	Orphanet:262643	\N	"" []	Orphanet:3310	"" []	1158387	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Tetrasomy 9p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:3310	"" []	2041607	\N	\N	EFO	4	EFO	Autosomal trisomy	Tetrasomy 9p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:3310	"" []	3191909	\N	\N	EFO	5	EFO	Autosomal anomaly	Tetrasomy 9p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:3310	"" []	4398501	\N	\N	EFO	6	EFO	Chromosomal anomaly	Tetrasomy 9p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3310	"" []	5415723	\N	\N	EFO	7	EFO	genetic disorder	Tetrasomy 9p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3310	"" []	6151537	\N	\N	EFO	8	EFO	disease	Tetrasomy 9p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3310	"" []	6633699	\N	\N	EFO	9	EFO	disposition	Tetrasomy 9p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3310	"" []	6926099	\N	\N	EFO	10	EFO	material property	Tetrasomy 9p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3310	"" []	7099272	\N	\N	EFO	11	EFO	experimental factor	Tetrasomy 9p
Orphanet:33108	\N	\N	"" []	Orphanet:33108	"" []	76732	\N	\N	EFO	0	EFO	Lethal multiple pterygium syndrome	Lethal multiple pterygium syndrome
Orphanet:102283	Orphanet:33108	\N	"" []	Orphanet:33108	"" []	219873	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Lethal multiple pterygium syndrome
Orphanet:183472	Orphanet:33108	\N	"" []	Orphanet:33108	"" []	219874	\N	\N	EFO	1	EFO	Genetic dermis disorder	Lethal multiple pterygium syndrome
Orphanet:294060	Orphanet:33108	\N	"" []	Orphanet:33108	"" []	219875	\N	\N	EFO	1	EFO	Multiple pterygium syndrome	Lethal multiple pterygium syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:33108	"" []	575407	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lethal multiple pterygium syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:33108	"" []	575408	\N	\N	EFO	2	EFO	Rare genetic skin disease	Lethal multiple pterygium syndrome
Orphanet:109007	Orphanet:294060	\N	"" []	Orphanet:33108	"" []	575409	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Lethal multiple pterygium syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:33108	"" []	1158388	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lethal multiple pterygium syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33108	"" []	1158389	\N	\N	EFO	3	EFO	genetic disorder	Lethal multiple pterygium syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:33108	"" []	1158390	\N	\N	EFO	3	EFO	skin disease	Lethal multiple pterygium syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:33108	"" []	1158391	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Lethal multiple pterygium syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33108	"" []	4398503	\N	\N	EFO	6	EFO	genetic disorder	Lethal multiple pterygium syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33108	"" []	5060009	\N	\N	EFO	7	EFO	disease	Lethal multiple pterygium syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33108	"" []	2041610	\N	\N	EFO	4	EFO	disease	Lethal multiple pterygium syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:33108	"" []	2041611	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Lethal multiple pterygium syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:33108	"" []	5817711	\N	\N	EFO	8	EFO	disposition	Lethal multiple pterygium syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:33108	"" []	3191912	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lethal multiple pterygium syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:33108	"" []	6410159	\N	\N	EFO	9	EFO	material property	Lethal multiple pterygium syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:33108	"" []	6807994	\N	\N	EFO	10	EFO	experimental factor	Lethal multiple pterygium syndrome
Orphanet:33110	\N	\N	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	76733	\N	\N	EFO	0	EFO	Autosomal agammaglobulinemia	Autosomal agammaglobulinemia
Orphanet:229717	Orphanet:33110	\N	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	219876	\N	\N	EFO	1	EFO	Isolated agammaglobulinemia	Autosomal agammaglobulinemia
Orphanet:183669	Orphanet:229717	\N	"" []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	575410	\N	\N	EFO	2	EFO	Agammaglobulinemia	Autosomal agammaglobulinemia
Orphanet:101977	Orphanet:183669	\N	"" []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	1158392	\N	\N	EFO	3	EFO	Immunodeficiency predominantly affecting antibody production	Autosomal agammaglobulinemia
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	2041612	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Autosomal agammaglobulinemia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	3191913	\N	\N	EFO	5	EFO	Primary immunodeficiency	Autosomal agammaglobulinemia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	4398504	\N	\N	EFO	6	EFO	Rare genetic immune disease	Autosomal agammaglobulinemia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	5415725	\N	\N	EFO	7	EFO	genetic disorder	Autosomal agammaglobulinemia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	5415726	\N	\N	EFO	7	EFO	immune system disease	Autosomal agammaglobulinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	6151538	\N	\N	EFO	8	EFO	disease	Autosomal agammaglobulinemia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	6151539	\N	\N	EFO	8	EFO	disease	Autosomal agammaglobulinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	6633700	\N	\N	EFO	9	EFO	disposition	Autosomal agammaglobulinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	6926100	\N	\N	EFO	10	EFO	material property	Autosomal agammaglobulinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:33110	"Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." []	7099273	\N	\N	EFO	11	EFO	experimental factor	Autosomal agammaglobulinemia
Orphanet:331176	\N	\N	"" []	Orphanet:331176	"" []	76734	\N	\N	EFO	0	EFO	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Orphanet:42738	Orphanet:331176	\N	"" []	Orphanet:331176	"" []	219877	\N	\N	EFO	1	EFO	Severe congenital neutropenia	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Orphanet:101987	Orphanet:42738	\N	"" []	Orphanet:331176	"" []	575411	\N	\N	EFO	2	EFO	Constitutional neutropenia	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:331176	"" []	1158393	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:331176	"" []	2041613	\N	\N	EFO	4	EFO	Primary immunodeficiency	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331176	"" []	3191914	\N	\N	EFO	5	EFO	Rare genetic immune disease	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331176	"" []	4398505	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331176	"" []	4398506	\N	\N	EFO	6	EFO	immune system disease	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331176	"" []	5415727	\N	\N	EFO	7	EFO	disease	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331176	"" []	5415728	\N	\N	EFO	7	EFO	disease	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331176	"" []	6151540	\N	\N	EFO	8	EFO	disposition	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331176	"" []	6633701	\N	\N	EFO	9	EFO	material property	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331176	"" []	6926101	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Orphanet:331184	\N	\N	"" []	Orphanet:331184	"" []	76735	\N	\N	EFO	0	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Constitutional neutropenia with extra-haematopoietic manifestations
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:331184	"" []	219878	\N	\N	EFO	1	EFO	Constitutional neutropenia	Constitutional neutropenia with extra-haematopoietic manifestations
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:331184	"" []	575412	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Constitutional neutropenia with extra-haematopoietic manifestations
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:331184	"" []	1158394	\N	\N	EFO	3	EFO	Primary immunodeficiency	Constitutional neutropenia with extra-haematopoietic manifestations
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331184	"" []	2041614	\N	\N	EFO	4	EFO	Rare genetic immune disease	Constitutional neutropenia with extra-haematopoietic manifestations
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331184	"" []	3191915	\N	\N	EFO	5	EFO	genetic disorder	Constitutional neutropenia with extra-haematopoietic manifestations
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331184	"" []	3191916	\N	\N	EFO	5	EFO	immune system disease	Constitutional neutropenia with extra-haematopoietic manifestations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331184	"" []	4398507	\N	\N	EFO	6	EFO	disease	Constitutional neutropenia with extra-haematopoietic manifestations
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331184	"" []	4398508	\N	\N	EFO	6	EFO	disease	Constitutional neutropenia with extra-haematopoietic manifestations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331184	"" []	5415729	\N	\N	EFO	7	EFO	disposition	Constitutional neutropenia with extra-haematopoietic manifestations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331184	"" []	6151541	\N	\N	EFO	8	EFO	material property	Constitutional neutropenia with extra-haematopoietic manifestations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331184	"" []	6633702	\N	\N	EFO	9	EFO	experimental factor	Constitutional neutropenia with extra-haematopoietic manifestations
Orphanet:331187	\N	\N	"" []	Orphanet:331187	"" []	76736	\N	\N	EFO	0	EFO	Immunodeficiency due to MASP-2 deficiency	Immunodeficiency due to MASP-2 deficiency
Orphanet:101992	Orphanet:331187	\N	"" []	Orphanet:331187	"" []	219879	\N	\N	EFO	1	EFO	Immunodeficiency due to a complement cascade protein anomaly	Immunodeficiency due to MASP-2 deficiency
Orphanet:101988	Orphanet:101992	\N	"" []	Orphanet:331187	"" []	575413	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Immunodeficiency due to MASP-2 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:331187	"" []	1158395	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency due to MASP-2 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331187	"" []	2041615	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency due to MASP-2 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331187	"" []	3191917	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency due to MASP-2 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331187	"" []	3191918	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency due to MASP-2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331187	"" []	4398509	\N	\N	EFO	6	EFO	disease	Immunodeficiency due to MASP-2 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331187	"" []	4398510	\N	\N	EFO	6	EFO	disease	Immunodeficiency due to MASP-2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331187	"" []	5415730	\N	\N	EFO	7	EFO	disposition	Immunodeficiency due to MASP-2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331187	"" []	6151542	\N	\N	EFO	8	EFO	material property	Immunodeficiency due to MASP-2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331187	"" []	6633703	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency due to MASP-2 deficiency
Orphanet:331190	\N	\N	"" []	Orphanet:331190	"" []	76737	\N	\N	EFO	0	EFO	Immunodeficiency due to ficolin3 deficiency	Immunodeficiency due to ficolin3 deficiency
Orphanet:101992	Orphanet:331190	\N	"" []	Orphanet:331190	"" []	219880	\N	\N	EFO	1	EFO	Immunodeficiency due to a complement cascade protein anomaly	Immunodeficiency due to ficolin3 deficiency
Orphanet:101988	Orphanet:101992	\N	"" []	Orphanet:331190	"" []	575414	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Immunodeficiency due to ficolin3 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:331190	"" []	1158396	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency due to ficolin3 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331190	"" []	2041616	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency due to ficolin3 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331190	"" []	3191919	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency due to ficolin3 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331190	"" []	3191920	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency due to ficolin3 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331190	"" []	4398511	\N	\N	EFO	6	EFO	disease	Immunodeficiency due to ficolin3 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331190	"" []	4398512	\N	\N	EFO	6	EFO	disease	Immunodeficiency due to ficolin3 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331190	"" []	5415731	\N	\N	EFO	7	EFO	disposition	Immunodeficiency due to ficolin3 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331190	"" []	6151543	\N	\N	EFO	8	EFO	material property	Immunodeficiency due to ficolin3 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331190	"" []	6633704	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency due to ficolin3 deficiency
Orphanet:331193	\N	\N	"" []	Orphanet:331193	"" []	76738	\N	\N	EFO	0	EFO	Other immunodeficiency syndromes due to defects in innate immunity	Other immunodeficiency syndromes due to defects in innate immunity
Orphanet:101988	Orphanet:331193	\N	"" []	Orphanet:331193	"" []	219881	\N	\N	EFO	1	EFO	Primary immunodeficiency due to a defect in innate immunity	Other immunodeficiency syndromes due to defects in innate immunity
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:331193	"" []	575415	\N	\N	EFO	2	EFO	Primary immunodeficiency	Other immunodeficiency syndromes due to defects in innate immunity
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331193	"" []	1158397	\N	\N	EFO	3	EFO	Rare genetic immune disease	Other immunodeficiency syndromes due to defects in innate immunity
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331193	"" []	2041617	\N	\N	EFO	4	EFO	genetic disorder	Other immunodeficiency syndromes due to defects in innate immunity
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331193	"" []	2041618	\N	\N	EFO	4	EFO	immune system disease	Other immunodeficiency syndromes due to defects in innate immunity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331193	"" []	3191921	\N	\N	EFO	5	EFO	disease	Other immunodeficiency syndromes due to defects in innate immunity
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331193	"" []	3191922	\N	\N	EFO	5	EFO	disease	Other immunodeficiency syndromes due to defects in innate immunity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331193	"" []	4398513	\N	\N	EFO	6	EFO	disposition	Other immunodeficiency syndromes due to defects in innate immunity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331193	"" []	5415732	\N	\N	EFO	7	EFO	material property	Other immunodeficiency syndromes due to defects in innate immunity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331193	"" []	6151544	\N	\N	EFO	8	EFO	experimental factor	Other immunodeficiency syndromes due to defects in innate immunity
Orphanet:331206	\N	\N	"" []	Orphanet:331206	"" []	76739	\N	\N	EFO	0	EFO	Severe combined immunodeficiency due to complete RAG1/2 deficiency	Severe combined immunodeficiency due to complete RAG1/2 deficiency
Orphanet:317419	Orphanet:331206	\N	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	Orphanet:331206	"" []	219882	\N	\N	EFO	1	EFO	T-B- severe combined immunodeficiency	Severe combined immunodeficiency due to complete RAG1/2 deficiency
Orphanet:183660	Orphanet:317419	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:331206	"" []	575416	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	Severe combined immunodeficiency due to complete RAG1/2 deficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:331206	"" []	1158398	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	Severe combined immunodeficiency due to complete RAG1/2 deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:331206	"" []	2041619	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Severe combined immunodeficiency due to complete RAG1/2 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:331206	"" []	3191923	\N	\N	EFO	5	EFO	Primary immunodeficiency	Severe combined immunodeficiency due to complete RAG1/2 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331206	"" []	4398514	\N	\N	EFO	6	EFO	Rare genetic immune disease	Severe combined immunodeficiency due to complete RAG1/2 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331206	"" []	5415733	\N	\N	EFO	7	EFO	genetic disorder	Severe combined immunodeficiency due to complete RAG1/2 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331206	"" []	5415734	\N	\N	EFO	7	EFO	immune system disease	Severe combined immunodeficiency due to complete RAG1/2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331206	"" []	6151545	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to complete RAG1/2 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331206	"" []	6151546	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to complete RAG1/2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331206	"" []	6633705	\N	\N	EFO	9	EFO	disposition	Severe combined immunodeficiency due to complete RAG1/2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331206	"" []	6926102	\N	\N	EFO	10	EFO	material property	Severe combined immunodeficiency due to complete RAG1/2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331206	"" []	7099274	\N	\N	EFO	11	EFO	experimental factor	Severe combined immunodeficiency due to complete RAG1/2 deficiency
Orphanet:331217	\N	\N	"" []	Orphanet:331217	"" []	76740	\N	\N	EFO	0	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Other immunodeficiency syndrome due to defects in adaptive immunity
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:331217	"" []	219883	\N	\N	EFO	1	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Other immunodeficiency syndrome due to defects in adaptive immunity
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:331217	"" []	575417	\N	\N	EFO	2	EFO	Primary immunodeficiency	Other immunodeficiency syndrome due to defects in adaptive immunity
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331217	"" []	1158399	\N	\N	EFO	3	EFO	Rare genetic immune disease	Other immunodeficiency syndrome due to defects in adaptive immunity
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331217	"" []	2041620	\N	\N	EFO	4	EFO	genetic disorder	Other immunodeficiency syndrome due to defects in adaptive immunity
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331217	"" []	2041621	\N	\N	EFO	4	EFO	immune system disease	Other immunodeficiency syndrome due to defects in adaptive immunity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331217	"" []	3191924	\N	\N	EFO	5	EFO	disease	Other immunodeficiency syndrome due to defects in adaptive immunity
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331217	"" []	3191925	\N	\N	EFO	5	EFO	disease	Other immunodeficiency syndrome due to defects in adaptive immunity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331217	"" []	4398515	\N	\N	EFO	6	EFO	disposition	Other immunodeficiency syndrome due to defects in adaptive immunity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331217	"" []	5415735	\N	\N	EFO	7	EFO	material property	Other immunodeficiency syndrome due to defects in adaptive immunity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331217	"" []	6151547	\N	\N	EFO	8	EFO	experimental factor	Other immunodeficiency syndrome due to defects in adaptive immunity
Orphanet:331220	\N	\N	"" []	Orphanet:331220	"" []	76741	\N	\N	EFO	0	EFO	Immunodeficiency due to absence of thymus	Immunodeficiency due to absence of thymus
Orphanet:331217	Orphanet:331220	\N	"" []	Orphanet:331220	"" []	219884	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Immunodeficiency due to absence of thymus
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:331220	"" []	575418	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immunodeficiency due to absence of thymus
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:331220	"" []	1158400	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency due to absence of thymus
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331220	"" []	2041622	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency due to absence of thymus
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331220	"" []	3191926	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency due to absence of thymus
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331220	"" []	3191927	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency due to absence of thymus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331220	"" []	4398516	\N	\N	EFO	6	EFO	disease	Immunodeficiency due to absence of thymus
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331220	"" []	4398517	\N	\N	EFO	6	EFO	disease	Immunodeficiency due to absence of thymus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331220	"" []	5415736	\N	\N	EFO	7	EFO	disposition	Immunodeficiency due to absence of thymus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331220	"" []	6151548	\N	\N	EFO	8	EFO	material property	Immunodeficiency due to absence of thymus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331220	"" []	6633706	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency due to absence of thymus
Orphanet:331223	\N	\N	"" []	Orphanet:331223	"" []	76742	\N	\N	EFO	0	EFO	Hyper-IgE syndrome	Hyper-IgE syndrome
Orphanet:331217	Orphanet:331223	\N	"" []	Orphanet:331223	"" []	219885	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Hyper-IgE syndrome
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:331223	"" []	575419	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Hyper-IgE syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:331223	"" []	1158401	\N	\N	EFO	3	EFO	Primary immunodeficiency	Hyper-IgE syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331223	"" []	2041623	\N	\N	EFO	4	EFO	Rare genetic immune disease	Hyper-IgE syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331223	"" []	3191928	\N	\N	EFO	5	EFO	genetic disorder	Hyper-IgE syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331223	"" []	3191929	\N	\N	EFO	5	EFO	immune system disease	Hyper-IgE syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331223	"" []	4398518	\N	\N	EFO	6	EFO	disease	Hyper-IgE syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331223	"" []	4398519	\N	\N	EFO	6	EFO	disease	Hyper-IgE syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331223	"" []	5415737	\N	\N	EFO	7	EFO	disposition	Hyper-IgE syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331223	"" []	6151549	\N	\N	EFO	8	EFO	material property	Hyper-IgE syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331223	"" []	6633707	\N	\N	EFO	9	EFO	experimental factor	Hyper-IgE syndrome
Orphanet:331226	\N	\N	"" []	Orphanet:331226	"" []	76743	\N	\N	EFO	0	EFO	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Orphanet:169446	Orphanet:331226	\N	"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." []	Orphanet:331226	"" []	219886	\N	\N	EFO	1	EFO	Autosomal recessive hyper-IgE syndrome	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Orphanet:331223	Orphanet:169446	\N	"" []	Orphanet:331226	"" []	575420	\N	\N	EFO	2	EFO	Hyper-IgE syndrome	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Orphanet:331217	Orphanet:331223	\N	"" []	Orphanet:331226	"" []	1158402	\N	\N	EFO	3	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:331226	"" []	2041624	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:331226	"" []	3191930	\N	\N	EFO	5	EFO	Primary immunodeficiency	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331226	"" []	4398520	\N	\N	EFO	6	EFO	Rare genetic immune disease	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331226	"" []	5415738	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331226	"" []	5415739	\N	\N	EFO	7	EFO	immune system disease	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331226	"" []	6151550	\N	\N	EFO	8	EFO	disease	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331226	"" []	6151551	\N	\N	EFO	8	EFO	disease	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331226	"" []	6633708	\N	\N	EFO	9	EFO	disposition	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331226	"" []	6926103	\N	\N	EFO	10	EFO	material property	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331226	"" []	7099275	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Orphanet:331232	\N	\N	"" []	Orphanet:331232	"" []	76744	\N	\N	EFO	0	EFO	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
Orphanet:101977	Orphanet:331232	\N	"" []	Orphanet:331232	"" []	219887	\N	\N	EFO	1	EFO	Immunodeficiency predominantly affecting antibody production	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:331232	"" []	575421	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:331232	"" []	1158403	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331232	"" []	2041625	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331232	"" []	3191931	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331232	"" []	3191932	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331232	"" []	4398521	\N	\N	EFO	6	EFO	disease	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331232	"" []	4398522	\N	\N	EFO	6	EFO	disease	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331232	"" []	5415740	\N	\N	EFO	7	EFO	disposition	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331232	"" []	6151552	\N	\N	EFO	8	EFO	material property	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331232	"" []	6633709	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
Orphanet:331235	\N	\N	"" []	Orphanet:331235	"" []	76745	\N	\N	EFO	0	EFO	Selective IgM deficiency	Selective IgM deficiency
Orphanet:331232	Orphanet:331235	\N	"" []	Orphanet:331235	"" []	219888	\N	\N	EFO	1	EFO	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells	Selective IgM deficiency
Orphanet:101977	Orphanet:331232	\N	"" []	Orphanet:331235	"" []	575422	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Selective IgM deficiency
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:331235	"" []	1158404	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Selective IgM deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:331235	"" []	2041626	\N	\N	EFO	4	EFO	Primary immunodeficiency	Selective IgM deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331235	"" []	3191933	\N	\N	EFO	5	EFO	Rare genetic immune disease	Selective IgM deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331235	"" []	4398523	\N	\N	EFO	6	EFO	genetic disorder	Selective IgM deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331235	"" []	4398524	\N	\N	EFO	6	EFO	immune system disease	Selective IgM deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331235	"" []	5415741	\N	\N	EFO	7	EFO	disease	Selective IgM deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331235	"" []	5415742	\N	\N	EFO	7	EFO	disease	Selective IgM deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331235	"" []	6151553	\N	\N	EFO	8	EFO	disposition	Selective IgM deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331235	"" []	6633710	\N	\N	EFO	9	EFO	material property	Selective IgM deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331235	"" []	6926104	\N	\N	EFO	10	EFO	experimental factor	Selective IgM deficiency
Orphanet:331240	\N	\N	"" []	Orphanet:331240	"" []	76746	\N	\N	EFO	0	EFO	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
Orphanet:101977	Orphanet:331240	\N	"" []	Orphanet:331240	"" []	219889	\N	\N	EFO	1	EFO	Immunodeficiency predominantly affecting antibody production	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:331240	"" []	575423	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:331240	"" []	1158405	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331240	"" []	2041627	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331240	"" []	3191934	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331240	"" []	3191935	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331240	"" []	4398525	\N	\N	EFO	6	EFO	disease	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331240	"" []	4398526	\N	\N	EFO	6	EFO	disease	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331240	"" []	5415743	\N	\N	EFO	7	EFO	disposition	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331240	"" []	6151554	\N	\N	EFO	8	EFO	material property	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331240	"" []	6633711	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
Orphanet:331244	\N	\N	"" []	Orphanet:331244	"" []	76747	\N	\N	EFO	0	EFO	Other immunodeficiency syndrome with predominantly antibody defects	Other immunodeficiency syndrome with predominantly antibody defects
Orphanet:101977	Orphanet:331244	\N	"" []	Orphanet:331244	"" []	219890	\N	\N	EFO	1	EFO	Immunodeficiency predominantly affecting antibody production	Other immunodeficiency syndrome with predominantly antibody defects
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:331244	"" []	575424	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Other immunodeficiency syndrome with predominantly antibody defects
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:331244	"" []	1158406	\N	\N	EFO	3	EFO	Primary immunodeficiency	Other immunodeficiency syndrome with predominantly antibody defects
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331244	"" []	2041628	\N	\N	EFO	4	EFO	Rare genetic immune disease	Other immunodeficiency syndrome with predominantly antibody defects
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331244	"" []	3191936	\N	\N	EFO	5	EFO	genetic disorder	Other immunodeficiency syndrome with predominantly antibody defects
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331244	"" []	3191937	\N	\N	EFO	5	EFO	immune system disease	Other immunodeficiency syndrome with predominantly antibody defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331244	"" []	4398527	\N	\N	EFO	6	EFO	disease	Other immunodeficiency syndrome with predominantly antibody defects
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331244	"" []	4398528	\N	\N	EFO	6	EFO	disease	Other immunodeficiency syndrome with predominantly antibody defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331244	"" []	5415744	\N	\N	EFO	7	EFO	disposition	Other immunodeficiency syndrome with predominantly antibody defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331244	"" []	6151555	\N	\N	EFO	8	EFO	material property	Other immunodeficiency syndrome with predominantly antibody defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331244	"" []	6633712	\N	\N	EFO	9	EFO	experimental factor	Other immunodeficiency syndrome with predominantly antibody defects
Orphanet:331249	\N	\N	"" []	Orphanet:331249	"" []	76748	\N	\N	EFO	0	EFO	Immunodeficiency syndrome with hypopigmentation	Immunodeficiency syndrome with hypopigmentation
Orphanet:158038	Orphanet:331249	\N	"" []	Orphanet:331249	"" []	219891	\N	\N	EFO	1	EFO	Primary hemophagocytic lymphohistiocytosis	Immunodeficiency syndrome with hypopigmentation
Orphanet:169361	Orphanet:158038	\N	"" []	Orphanet:331249	"" []	575425	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Immunodeficiency syndrome with hypopigmentation
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:331249	"" []	1158407	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immunodeficiency syndrome with hypopigmentation
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:331249	"" []	2041629	\N	\N	EFO	4	EFO	Primary immunodeficiency	Immunodeficiency syndrome with hypopigmentation
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:331249	"" []	3191938	\N	\N	EFO	5	EFO	Rare genetic immune disease	Immunodeficiency syndrome with hypopigmentation
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:331249	"" []	4398529	\N	\N	EFO	6	EFO	genetic disorder	Immunodeficiency syndrome with hypopigmentation
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:331249	"" []	4398530	\N	\N	EFO	6	EFO	immune system disease	Immunodeficiency syndrome with hypopigmentation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331249	"" []	5415745	\N	\N	EFO	7	EFO	disease	Immunodeficiency syndrome with hypopigmentation
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:331249	"" []	5415746	\N	\N	EFO	7	EFO	disease	Immunodeficiency syndrome with hypopigmentation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:331249	"" []	6151556	\N	\N	EFO	8	EFO	disposition	Immunodeficiency syndrome with hypopigmentation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:331249	"" []	6633713	\N	\N	EFO	9	EFO	material property	Immunodeficiency syndrome with hypopigmentation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:331249	"" []	6926105	\N	\N	EFO	10	EFO	experimental factor	Immunodeficiency syndrome with hypopigmentation
Orphanet:3314	\N	\N	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	Orphanet:3314	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	76749	\N	\N	EFO	0	EFO	Thiemann disease, familial form	Thiemann disease, familial form
Orphanet:399391	Orphanet:3314	\N	"" []	Orphanet:3314	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	219892	\N	\N	EFO	1	EFO	Osteochondrosis of genetic origin	Thiemann disease, familial form
Orphanet:399380	Orphanet:399391	\N	"" []	Orphanet:3314	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	575426	\N	\N	EFO	2	EFO	Osteonecrosis of genetic origin	Thiemann disease, familial form
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:3314	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	1158408	\N	\N	EFO	3	EFO	Rare genetic bone disease	Thiemann disease, familial form
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3314	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	2041630	\N	\N	EFO	4	EFO	genetic disorder	Thiemann disease, familial form
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3314	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	2041631	\N	\N	EFO	4	EFO	bone disease	Thiemann disease, familial form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3314	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	3191939	\N	\N	EFO	5	EFO	disease	Thiemann disease, familial form
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3314	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	3191940	\N	\N	EFO	5	EFO	skeletal system disease	Thiemann disease, familial form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3314	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	5415748	\N	\N	EFO	7	EFO	disposition	Thiemann disease, familial form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3314	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	4398532	\N	\N	EFO	6	EFO	disease	Thiemann disease, familial form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3314	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	5998101	\N	\N	EFO	8	EFO	material property	Thiemann disease, familial form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3314	"Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." []	6551388	\N	\N	EFO	9	EFO	experimental factor	Thiemann disease, familial form
Orphanet:3315	\N	\N	"Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." []	Orphanet:3315	"Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." []	76750	\N	\N	EFO	0	EFO	Thiopurine S-methyltransferase deficiency	Thiopurine S-methyltransferase deficiency
Orphanet:79191	Orphanet:3315	\N	"" []	Orphanet:3315	"Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." []	219893	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Thiopurine S-methyltransferase deficiency
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:3315	"Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." []	575427	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Thiopurine S-methyltransferase deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:3315	"Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." []	1158409	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Thiopurine S-methyltransferase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3315	"Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." []	2041632	\N	\N	EFO	4	EFO	genetic disorder	Thiopurine S-methyltransferase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3315	"Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." []	2041633	\N	\N	EFO	4	EFO	metabolic disease	Thiopurine S-methyltransferase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3315	"Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." []	3191941	\N	\N	EFO	5	EFO	disease	Thiopurine S-methyltransferase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3315	"Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." []	3191942	\N	\N	EFO	5	EFO	disease	Thiopurine S-methyltransferase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3315	"Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." []	4398533	\N	\N	EFO	6	EFO	disposition	Thiopurine S-methyltransferase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3315	"Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." []	5415749	\N	\N	EFO	7	EFO	material property	Thiopurine S-methyltransferase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3315	"Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." []	6151558	\N	\N	EFO	8	EFO	experimental factor	Thiopurine S-methyltransferase deficiency
Orphanet:3316	\N	\N	"" []	Orphanet:3316	"" []	76751	\N	\N	EFO	0	EFO	Thomas syndrome	Thomas syndrome
Orphanet:139039	Orphanet:3316	\N	"" []	Orphanet:3316	"" []	219894	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Thomas syndrome
Orphanet:156532	Orphanet:3316	\N	"" []	Orphanet:3316	"" []	219895	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Thomas syndrome
Orphanet:330206	Orphanet:3316	\N	"" []	Orphanet:3316	"" []	219896	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Thomas syndrome
Orphanet:93547	Orphanet:3316	\N	"" []	Orphanet:3316	"" []	219897	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Thomas syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3316	"" []	575428	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Thomas syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:3316	"" []	575429	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Thomas syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3316	"" []	575430	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Thomas syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:3316	"" []	575431	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Thomas syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3316	"" []	1158410	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Thomas syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3316	"" []	1158411	\N	\N	EFO	3	EFO	genetic disorder	Thomas syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:3316	"" []	1158412	\N	\N	EFO	3	EFO	heart disease	Thomas syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3316	"" []	1158413	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Thomas syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:3316	"" []	1158414	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Thomas syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:3316	"" []	1158415	\N	\N	EFO	3	EFO	Rare genetic renal disease	Thomas syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3316	"" []	2041634	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Thomas syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3316	"" []	5060010	\N	\N	EFO	7	EFO	disease	Thomas syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:3316	"" []	2041636	\N	\N	EFO	4	EFO	cardiovascular disease	Thomas syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3316	"" []	4398534	\N	\N	EFO	6	EFO	genetic disorder	Thomas syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3316	"" []	2041638	\N	\N	EFO	4	EFO	genetic disorder	Thomas syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3316	"" []	3191943	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Thomas syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3316	"" []	5817712	\N	\N	EFO	8	EFO	disposition	Thomas syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3316	"" []	3191945	\N	\N	EFO	5	EFO	disease	Thomas syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3316	"" []	6410160	\N	\N	EFO	9	EFO	material property	Thomas syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3316	"" []	6807995	\N	\N	EFO	10	EFO	experimental factor	Thomas syndrome
Orphanet:3317	\N	\N	"" []	Orphanet:3317	"" []	76752	\N	\N	EFO	0	EFO	Thoracolaryngopelvic dysplasia	Thoracolaryngopelvic dysplasia
Orphanet:183622	Orphanet:3317	\N	"" []	Orphanet:3317	"" []	219898	\N	\N	EFO	1	EFO	Genetic respiratory malformation	Thoracolaryngopelvic dysplasia
Orphanet:93426	Orphanet:3317	\N	"" []	Orphanet:3317	"" []	219899	\N	\N	EFO	1	EFO	Short rib dysplasia	Thoracolaryngopelvic dysplasia
Orphanet:156610	Orphanet:183622	\N	"" []	Orphanet:3317	"" []	575432	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	Thoracolaryngopelvic dysplasia
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:3317	"" []	575433	\N	\N	EFO	2	EFO	Primary bone dysplasia	Thoracolaryngopelvic dysplasia
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3317	"" []	1158416	\N	\N	EFO	3	EFO	genetic disorder	Thoracolaryngopelvic dysplasia
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:3317	"" []	1158417	\N	\N	EFO	3	EFO	respiratory system disease	Thoracolaryngopelvic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3317	"" []	1158418	\N	\N	EFO	3	EFO	Rare genetic bone disease	Thoracolaryngopelvic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3317	"" []	1158419	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Thoracolaryngopelvic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3317	"" []	4398538	\N	\N	EFO	6	EFO	disease	Thoracolaryngopelvic dysplasia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3317	"" []	2041640	\N	\N	EFO	4	EFO	disease	Thoracolaryngopelvic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3317	"" []	2041641	\N	\N	EFO	4	EFO	genetic disorder	Thoracolaryngopelvic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3317	"" []	2041642	\N	\N	EFO	4	EFO	bone disease	Thoracolaryngopelvic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3317	"" []	2041643	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Thoracolaryngopelvic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3317	"" []	5060011	\N	\N	EFO	7	EFO	disposition	Thoracolaryngopelvic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3317	"" []	3191949	\N	\N	EFO	5	EFO	skeletal system disease	Thoracolaryngopelvic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3317	"" []	3191950	\N	\N	EFO	5	EFO	genetic disorder	Thoracolaryngopelvic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3317	"" []	5877378	\N	\N	EFO	8	EFO	material property	Thoracolaryngopelvic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3317	"" []	4398537	\N	\N	EFO	6	EFO	disease	Thoracolaryngopelvic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3317	"" []	6470614	\N	\N	EFO	9	EFO	experimental factor	Thoracolaryngopelvic dysplasia
Orphanet:3319	\N	\N	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	76753	\N	\N	EFO	0	EFO	Congenital amegakaryocytic thrombocytopenia	Congenital amegakaryocytic thrombocytopenia
Orphanet:275729	Orphanet:3319	\N	"" []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	219900	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Congenital amegakaryocytic thrombocytopenia
Orphanet:68383	Orphanet:3319	\N	"" []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	219901	\N	\N	EFO	1	EFO	Rare constitutional medullar aplasia	Congenital amegakaryocytic thrombocytopenia
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	575434	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Congenital amegakaryocytic thrombocytopenia
Orphanet:182040	Orphanet:68383	\N	"" []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	575435	\N	\N	EFO	2	EFO	Medullar aplasia	Congenital amegakaryocytic thrombocytopenia
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	1158420	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Congenital amegakaryocytic thrombocytopenia
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	1158421	\N	\N	EFO	3	EFO	Rare constitutional anemia	Congenital amegakaryocytic thrombocytopenia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	2041644	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Congenital amegakaryocytic thrombocytopenia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	2041645	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Congenital amegakaryocytic thrombocytopenia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	3191951	\N	\N	EFO	5	EFO	genetic disorder	Congenital amegakaryocytic thrombocytopenia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	3191952	\N	\N	EFO	5	EFO	hematological system disease	Congenital amegakaryocytic thrombocytopenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	4398539	\N	\N	EFO	6	EFO	disease	Congenital amegakaryocytic thrombocytopenia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	4398540	\N	\N	EFO	6	EFO	disease	Congenital amegakaryocytic thrombocytopenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	5415752	\N	\N	EFO	7	EFO	disposition	Congenital amegakaryocytic thrombocytopenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	6151559	\N	\N	EFO	8	EFO	material property	Congenital amegakaryocytic thrombocytopenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3319	"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." []	6633714	\N	\N	EFO	9	EFO	experimental factor	Congenital amegakaryocytic thrombocytopenia
Orphanet:332	\N	\N	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	76754	\N	\N	EFO	0	EFO	Congenital intrinsic factor deficiency	Congenital intrinsic factor deficiency
Orphanet:79171	Orphanet:332	\N	"" []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	219902	\N	\N	EFO	1	EFO	Disorder of cobalamin metabolism and transport	Congenital intrinsic factor deficiency
Orphanet:98396	Orphanet:332	\N	"" []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	219903	\N	\N	EFO	1	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Congenital intrinsic factor deficiency
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	575436	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Congenital intrinsic factor deficiency
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	575437	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Congenital intrinsic factor deficiency
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	575438	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Congenital intrinsic factor deficiency
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	1158422	\N	\N	EFO	3	EFO	metabolic disease	Congenital intrinsic factor deficiency
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	1158423	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Congenital intrinsic factor deficiency
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	1158424	\N	\N	EFO	3	EFO	Rare constitutional anemia	Congenital intrinsic factor deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	4398543	\N	\N	EFO	6	EFO	disease	Congenital intrinsic factor deficiency
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	2041647	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital intrinsic factor deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	2041648	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Congenital intrinsic factor deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	5060012	\N	\N	EFO	7	EFO	disposition	Congenital intrinsic factor deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	3191954	\N	\N	EFO	5	EFO	genetic disorder	Congenital intrinsic factor deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	3191955	\N	\N	EFO	5	EFO	metabolic disease	Congenital intrinsic factor deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	3191956	\N	\N	EFO	5	EFO	genetic disorder	Congenital intrinsic factor deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	3191957	\N	\N	EFO	5	EFO	hematological system disease	Congenital intrinsic factor deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	5877379	\N	\N	EFO	8	EFO	material property	Congenital intrinsic factor deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	4398542	\N	\N	EFO	6	EFO	disease	Congenital intrinsic factor deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	4398544	\N	\N	EFO	6	EFO	disease	Congenital intrinsic factor deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:332	"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." []	6470615	\N	\N	EFO	9	EFO	experimental factor	Congenital intrinsic factor deficiency
Orphanet:3320	\N	\N	"" []	Orphanet:3320	"" []	76755	\N	\N	EFO	0	EFO	Thrombocytopenia - absent radius	Thrombocytopenia - absent radius
Orphanet:275729	Orphanet:3320	\N	"" []	Orphanet:3320	"" []	219904	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Thrombocytopenia - absent radius
Orphanet:404574	Orphanet:3320	\N	"" []	Orphanet:3320	"" []	219905	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Thrombocytopenia - absent radius
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:3320	"" []	575439	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Thrombocytopenia - absent radius
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:3320	"" []	575440	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Thrombocytopenia - absent radius
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:3320	"" []	575441	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Thrombocytopenia - absent radius
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:3320	"" []	1158425	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Thrombocytopenia - absent radius
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3320	"" []	1158426	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Thrombocytopenia - absent radius
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3320	"" []	1158427	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Thrombocytopenia - absent radius
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:3320	"" []	2041649	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Thrombocytopenia - absent radius
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3320	"" []	2041650	\N	\N	EFO	4	EFO	Rare genetic bone disease	Thrombocytopenia - absent radius
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3320	"" []	2041651	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Thrombocytopenia - absent radius
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3320	"" []	2041652	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Thrombocytopenia - absent radius
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3320	"" []	3191958	\N	\N	EFO	5	EFO	genetic disorder	Thrombocytopenia - absent radius
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:3320	"" []	3191959	\N	\N	EFO	5	EFO	hematological system disease	Thrombocytopenia - absent radius
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3320	"" []	3191960	\N	\N	EFO	5	EFO	genetic disorder	Thrombocytopenia - absent radius
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3320	"" []	3191961	\N	\N	EFO	5	EFO	bone disease	Thrombocytopenia - absent radius
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3320	"" []	3191962	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Thrombocytopenia - absent radius
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3320	"" []	4398548	\N	\N	EFO	6	EFO	genetic disorder	Thrombocytopenia - absent radius
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3320	"" []	5182731	\N	\N	EFO	7	EFO	disease	Thrombocytopenia - absent radius
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3320	"" []	4398546	\N	\N	EFO	6	EFO	disease	Thrombocytopenia - absent radius
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3320	"" []	4398547	\N	\N	EFO	6	EFO	skeletal system disease	Thrombocytopenia - absent radius
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3320	"" []	5998104	\N	\N	EFO	8	EFO	disposition	Thrombocytopenia - absent radius
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3320	"" []	5415755	\N	\N	EFO	7	EFO	disease	Thrombocytopenia - absent radius
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3320	"" []	6551389	\N	\N	EFO	9	EFO	material property	Thrombocytopenia - absent radius
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3320	"" []	6889420	\N	\N	EFO	10	EFO	experimental factor	Thrombocytopenia - absent radius
Orphanet:3322	\N	\N	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	76756	\N	\N	EFO	0	EFO	Hoyeraal-Hreidarsson syndrome	Hoyeraal-Hreidarsson syndrome
Orphanet:269567	Orphanet:3322	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	219906	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Hoyeraal-Hreidarsson syndrome
Orphanet:331217	Orphanet:3322	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	219907	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Hoyeraal-Hreidarsson syndrome
Orphanet:68383	Orphanet:3322	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	219908	\N	\N	EFO	1	EFO	Rare constitutional medullar aplasia	Hoyeraal-Hreidarsson syndrome
Orphanet:98464	Orphanet:3322	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	219909	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Hoyeraal-Hreidarsson syndrome
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	575442	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Hoyeraal-Hreidarsson syndrome
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	575443	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Hoyeraal-Hreidarsson syndrome
Orphanet:182040	Orphanet:68383	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	575444	\N	\N	EFO	2	EFO	Medullar aplasia	Hoyeraal-Hreidarsson syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	575445	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Hoyeraal-Hreidarsson syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	1158428	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Hoyeraal-Hreidarsson syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	1158429	\N	\N	EFO	3	EFO	Primary immunodeficiency	Hoyeraal-Hreidarsson syndrome
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	1158430	\N	\N	EFO	3	EFO	Rare constitutional anemia	Hoyeraal-Hreidarsson syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	1158431	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Hoyeraal-Hreidarsson syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	2041653	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hoyeraal-Hreidarsson syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	2041654	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hoyeraal-Hreidarsson syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	2041655	\N	\N	EFO	4	EFO	Rare genetic immune disease	Hoyeraal-Hreidarsson syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	2041656	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hoyeraal-Hreidarsson syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	2041657	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hoyeraal-Hreidarsson syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	3191964	\N	\N	EFO	5	EFO	genetic disorder	Hoyeraal-Hreidarsson syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	3191965	\N	\N	EFO	5	EFO	genetic disorder	Hoyeraal-Hreidarsson syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	3191966	\N	\N	EFO	5	EFO	genetic disorder	Hoyeraal-Hreidarsson syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	3191967	\N	\N	EFO	5	EFO	immune system disease	Hoyeraal-Hreidarsson syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	3191968	\N	\N	EFO	5	EFO	genetic disorder	Hoyeraal-Hreidarsson syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	3191969	\N	\N	EFO	5	EFO	hematological system disease	Hoyeraal-Hreidarsson syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	4398549	\N	\N	EFO	6	EFO	disease	Hoyeraal-Hreidarsson syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	4398550	\N	\N	EFO	6	EFO	disease	Hoyeraal-Hreidarsson syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	4398551	\N	\N	EFO	6	EFO	disease	Hoyeraal-Hreidarsson syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	5415756	\N	\N	EFO	7	EFO	disposition	Hoyeraal-Hreidarsson syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	6151561	\N	\N	EFO	8	EFO	material property	Hoyeraal-Hreidarsson syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3322	"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." []	6633716	\N	\N	EFO	9	EFO	experimental factor	Hoyeraal-Hreidarsson syndrome
Orphanet:3323	\N	\N	"" []	Orphanet:3323	"" []	76757	\N	\N	EFO	0	EFO	Thrombocytopenia - Robin sequence	Thrombocytopenia - Robin sequence
Orphanet:139039	Orphanet:3323	\N	"" []	Orphanet:3323	"" []	219910	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Thrombocytopenia - Robin sequence
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3323	"" []	575446	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Thrombocytopenia - Robin sequence
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3323	"" []	1158432	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Thrombocytopenia - Robin sequence
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3323	"" []	2041658	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Thrombocytopenia - Robin sequence
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3323	"" []	3191970	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Thrombocytopenia - Robin sequence
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3323	"" []	4398552	\N	\N	EFO	6	EFO	genetic disorder	Thrombocytopenia - Robin sequence
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3323	"" []	5415757	\N	\N	EFO	7	EFO	disease	Thrombocytopenia - Robin sequence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3323	"" []	6151562	\N	\N	EFO	8	EFO	disposition	Thrombocytopenia - Robin sequence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3323	"" []	6633717	\N	\N	EFO	9	EFO	material property	Thrombocytopenia - Robin sequence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3323	"" []	6926106	\N	\N	EFO	10	EFO	experimental factor	Thrombocytopenia - Robin sequence
Orphanet:3324	\N	\N	"" []	Orphanet:3324	"" []	76758	\N	\N	EFO	0	EFO	Familial thrombomodulin anomalies	Familial thrombomodulin anomalies
Orphanet:248361	Orphanet:3324	\N	"" []	Orphanet:3324	"" []	219911	\N	\N	EFO	1	EFO	Rare thrombotic disorder due to a constitutional coagulation factors defect	Familial thrombomodulin anomalies
Orphanet:183654	Orphanet:248361	\N	"" []	Orphanet:3324	"" []	575447	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Familial thrombomodulin anomalies
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:3324	"" []	1158433	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Familial thrombomodulin anomalies
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3324	"" []	2041659	\N	\N	EFO	4	EFO	genetic disorder	Familial thrombomodulin anomalies
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:3324	"" []	2041660	\N	\N	EFO	4	EFO	hematological system disease	Familial thrombomodulin anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3324	"" []	3191971	\N	\N	EFO	5	EFO	disease	Familial thrombomodulin anomalies
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3324	"" []	3191972	\N	\N	EFO	5	EFO	disease	Familial thrombomodulin anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3324	"" []	4398553	\N	\N	EFO	6	EFO	disposition	Familial thrombomodulin anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3324	"" []	5415758	\N	\N	EFO	7	EFO	material property	Familial thrombomodulin anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3324	"" []	6151563	\N	\N	EFO	8	EFO	experimental factor	Familial thrombomodulin anomalies
Orphanet:3326	\N	\N	"" []	Orphanet:3326	"" []	76759	\N	\N	EFO	0	EFO	Thymic-renal-anal-lung dysplasia	Thymic-renal-anal-lung dysplasia
Orphanet:330206	Orphanet:3326	\N	"" []	Orphanet:3326	"" []	219912	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Thymic-renal-anal-lung dysplasia
Orphanet:93547	Orphanet:3326	\N	"" []	Orphanet:3326	"" []	219913	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Thymic-renal-anal-lung dysplasia
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3326	"" []	575448	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Thymic-renal-anal-lung dysplasia
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:3326	"" []	575449	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Thymic-renal-anal-lung dysplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3326	"" []	1158434	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Thymic-renal-anal-lung dysplasia
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:3326	"" []	1158435	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Thymic-renal-anal-lung dysplasia
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:3326	"" []	1158436	\N	\N	EFO	3	EFO	Rare genetic renal disease	Thymic-renal-anal-lung dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3326	"" []	2041661	\N	\N	EFO	4	EFO	genetic disorder	Thymic-renal-anal-lung dysplasia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3326	"" []	2041662	\N	\N	EFO	4	EFO	genetic disorder	Thymic-renal-anal-lung dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3326	"" []	3191973	\N	\N	EFO	5	EFO	disease	Thymic-renal-anal-lung dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3326	"" []	4398554	\N	\N	EFO	6	EFO	disposition	Thymic-renal-anal-lung dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3326	"" []	5415759	\N	\N	EFO	7	EFO	material property	Thymic-renal-anal-lung dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3326	"" []	6151564	\N	\N	EFO	8	EFO	experimental factor	Thymic-renal-anal-lung dysplasia
Orphanet:3327	\N	\N	"" []	Orphanet:3327	"" []	76760	\N	\N	EFO	0	EFO	Thyrocerebrorenal syndrome	Thyrocerebrorenal syndrome
Orphanet:93547	Orphanet:3327	\N	"" []	Orphanet:3327	"" []	219914	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Thyrocerebrorenal syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:3327	"" []	575450	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Thyrocerebrorenal syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:3327	"" []	1158437	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Thyrocerebrorenal syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:3327	"" []	1158438	\N	\N	EFO	3	EFO	Rare genetic renal disease	Thyrocerebrorenal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3327	"" []	2041663	\N	\N	EFO	4	EFO	genetic disorder	Thyrocerebrorenal syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3327	"" []	2041664	\N	\N	EFO	4	EFO	genetic disorder	Thyrocerebrorenal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3327	"" []	3191974	\N	\N	EFO	5	EFO	disease	Thyrocerebrorenal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3327	"" []	4398555	\N	\N	EFO	6	EFO	disposition	Thyrocerebrorenal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3327	"" []	5415760	\N	\N	EFO	7	EFO	material property	Thyrocerebrorenal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3327	"" []	6151565	\N	\N	EFO	8	EFO	experimental factor	Thyrocerebrorenal syndrome
Orphanet:3328	\N	\N	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	76761	\N	\N	EFO	0	EFO	Absent tibia - polydactyly - arachnoid cyst	Absent tibia - polydactyly - arachnoid cyst
Orphanet:294959	Orphanet:3328	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	219915	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Absent tibia - polydactyly - arachnoid cyst
Orphanet:330206	Orphanet:3328	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	219916	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Absent tibia - polydactyly - arachnoid cyst
Orphanet:404574	Orphanet:3328	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	219917	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Absent tibia - polydactyly - arachnoid cyst
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	575451	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Absent tibia - polydactyly - arachnoid cyst
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	575452	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Absent tibia - polydactyly - arachnoid cyst
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	575453	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Absent tibia - polydactyly - arachnoid cyst
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	575454	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Absent tibia - polydactyly - arachnoid cyst
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	575455	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Absent tibia - polydactyly - arachnoid cyst
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	1158439	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Absent tibia - polydactyly - arachnoid cyst
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	1158440	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Absent tibia - polydactyly - arachnoid cyst
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	1158441	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Absent tibia - polydactyly - arachnoid cyst
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	2041665	\N	\N	EFO	4	EFO	Rare genetic bone disease	Absent tibia - polydactyly - arachnoid cyst
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	2041666	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Absent tibia - polydactyly - arachnoid cyst
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	2041667	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Absent tibia - polydactyly - arachnoid cyst
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	4398557	\N	\N	EFO	6	EFO	genetic disorder	Absent tibia - polydactyly - arachnoid cyst
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	3191975	\N	\N	EFO	5	EFO	genetic disorder	Absent tibia - polydactyly - arachnoid cyst
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	3191976	\N	\N	EFO	5	EFO	bone disease	Absent tibia - polydactyly - arachnoid cyst
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	3191977	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Absent tibia - polydactyly - arachnoid cyst
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	5060013	\N	\N	EFO	7	EFO	disease	Absent tibia - polydactyly - arachnoid cyst
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	4398556	\N	\N	EFO	6	EFO	skeletal system disease	Absent tibia - polydactyly - arachnoid cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	5877380	\N	\N	EFO	8	EFO	disposition	Absent tibia - polydactyly - arachnoid cyst
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	5415761	\N	\N	EFO	7	EFO	disease	Absent tibia - polydactyly - arachnoid cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	6470616	\N	\N	EFO	9	EFO	material property	Absent tibia - polydactyly - arachnoid cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3328	"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." []	6848627	\N	\N	EFO	10	EFO	experimental factor	Absent tibia - polydactyly - arachnoid cyst
Orphanet:3329	\N	\N	"" []	Orphanet:3329	"" []	76762	\N	\N	EFO	0	EFO	Tibial aplasia - ectrodactyly	Tibial aplasia - ectrodactyly
Orphanet:139039	Orphanet:3329	\N	"" []	Orphanet:3329	"" []	219918	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Tibial aplasia - ectrodactyly
Orphanet:294957	Orphanet:3329	\N	"" []	Orphanet:3329	"" []	219919	\N	\N	EFO	1	EFO	Dysostosis with combined reduction defects of upper and lower limbs	Tibial aplasia - ectrodactyly
Orphanet:404574	Orphanet:3329	\N	"" []	Orphanet:3329	"" []	219920	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Tibial aplasia - ectrodactyly
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3329	"" []	575456	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Tibial aplasia - ectrodactyly
Orphanet:404571	Orphanet:294957	\N	"" []	Orphanet:3329	"" []	575457	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Tibial aplasia - ectrodactyly
Orphanet:404577	Orphanet:294957	\N	"" []	Orphanet:3329	"" []	575458	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Tibial aplasia - ectrodactyly
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:3329	"" []	575459	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Tibial aplasia - ectrodactyly
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:3329	"" []	575460	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Tibial aplasia - ectrodactyly
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3329	"" []	1158442	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Tibial aplasia - ectrodactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3329	"" []	1158443	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Tibial aplasia - ectrodactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3329	"" []	1158444	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Tibial aplasia - ectrodactyly
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3329	"" []	2041669	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Tibial aplasia - ectrodactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3329	"" []	2041670	\N	\N	EFO	4	EFO	Rare genetic bone disease	Tibial aplasia - ectrodactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3329	"" []	2041671	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Tibial aplasia - ectrodactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3329	"" []	2041672	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Tibial aplasia - ectrodactyly
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3329	"" []	3191980	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Tibial aplasia - ectrodactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3329	"" []	3191981	\N	\N	EFO	5	EFO	genetic disorder	Tibial aplasia - ectrodactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3329	"" []	3191982	\N	\N	EFO	5	EFO	bone disease	Tibial aplasia - ectrodactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3329	"" []	3191983	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Tibial aplasia - ectrodactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3329	"" []	4398559	\N	\N	EFO	6	EFO	genetic disorder	Tibial aplasia - ectrodactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3329	"" []	5182733	\N	\N	EFO	7	EFO	disease	Tibial aplasia - ectrodactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3329	"" []	4398561	\N	\N	EFO	6	EFO	skeletal system disease	Tibial aplasia - ectrodactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3329	"" []	5998106	\N	\N	EFO	8	EFO	disposition	Tibial aplasia - ectrodactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3329	"" []	5415764	\N	\N	EFO	7	EFO	disease	Tibial aplasia - ectrodactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3329	"" []	6551391	\N	\N	EFO	9	EFO	material property	Tibial aplasia - ectrodactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3329	"" []	6889421	\N	\N	EFO	10	EFO	experimental factor	Tibial aplasia - ectrodactyly
Orphanet:333	\N	\N	"" []	Orphanet:333	"" []	76763	\N	\N	EFO	0	EFO	Farber lipogranulomatosis	Farber lipogranulomatosis
Orphanet:183484	Orphanet:333	\N	"" []	Orphanet:333	"" []	219921	\N	\N	EFO	1	EFO	Genetic subcutaneous tissue disorder	Farber lipogranulomatosis
Orphanet:68385	Orphanet:333	\N	"" []	Orphanet:333	"" []	219922	\N	\N	EFO	1	EFO	Neurometabolic disease	Farber lipogranulomatosis
Orphanet:79225	Orphanet:333	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:333	"" []	219923	\N	\N	EFO	1	EFO	Sphingolipidosis	Farber lipogranulomatosis
Orphanet:98666	Orphanet:333	\N	"" []	Orphanet:333	"" []	219924	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Farber lipogranulomatosis
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:333	"" []	575461	\N	\N	EFO	2	EFO	Rare genetic skin disease	Farber lipogranulomatosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:333	"" []	575462	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Farber lipogranulomatosis
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:333	"" []	575463	\N	\N	EFO	2	EFO	Lysosomal disease	Farber lipogranulomatosis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:333	"" []	575464	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Farber lipogranulomatosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:333	"" []	1158445	\N	\N	EFO	3	EFO	genetic disorder	Farber lipogranulomatosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:333	"" []	1158446	\N	\N	EFO	3	EFO	skin disease	Farber lipogranulomatosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:333	"" []	1158447	\N	\N	EFO	3	EFO	genetic disorder	Farber lipogranulomatosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:333	"" []	1158448	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Farber lipogranulomatosis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:333	"" []	1158449	\N	\N	EFO	3	EFO	Retinal dystrophy	Farber lipogranulomatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:333	"" []	5415766	\N	\N	EFO	7	EFO	disease	Farber lipogranulomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:333	"" []	2041674	\N	\N	EFO	4	EFO	disease	Farber lipogranulomatosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:333	"" []	2041675	\N	\N	EFO	4	EFO	genetic disorder	Farber lipogranulomatosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:333	"" []	2041676	\N	\N	EFO	4	EFO	metabolic disease	Farber lipogranulomatosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:333	"" []	2041677	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Farber lipogranulomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:333	"" []	5817713	\N	\N	EFO	8	EFO	disposition	Farber lipogranulomatosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:333	"" []	3191987	\N	\N	EFO	5	EFO	disease	Farber lipogranulomatosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:333	"" []	3191988	\N	\N	EFO	5	EFO	Rare genetic eye disease	Farber lipogranulomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:333	"" []	6410161	\N	\N	EFO	9	EFO	material property	Farber lipogranulomatosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:333	"" []	4398563	\N	\N	EFO	6	EFO	genetic disorder	Farber lipogranulomatosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:333	"" []	4398564	\N	\N	EFO	6	EFO	eye disease	Farber lipogranulomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:333	"" []	6807996	\N	\N	EFO	10	EFO	experimental factor	Farber lipogranulomatosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:333	"" []	5415767	\N	\N	EFO	7	EFO	disease	Farber lipogranulomatosis
Orphanet:3331	\N	\N	"" []	Orphanet:3331	"" []	76764	\N	\N	EFO	0	EFO	Bowed tibiae  - radial anomalies - osteopenia - fractures	Bowed tibiae  - radial anomalies - osteopenia - fractures
Orphanet:93446	Orphanet:3331	\N	"" []	Orphanet:3331	"" []	219925	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Bowed tibiae  - radial anomalies - osteopenia - fractures
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:3331	"" []	575465	\N	\N	EFO	2	EFO	Primary bone dysplasia	Bowed tibiae  - radial anomalies - osteopenia - fractures
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3331	"" []	1158450	\N	\N	EFO	3	EFO	Rare genetic bone disease	Bowed tibiae  - radial anomalies - osteopenia - fractures
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3331	"" []	1158451	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Bowed tibiae  - radial anomalies - osteopenia - fractures
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3331	"" []	2041678	\N	\N	EFO	4	EFO	genetic disorder	Bowed tibiae  - radial anomalies - osteopenia - fractures
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3331	"" []	2041679	\N	\N	EFO	4	EFO	bone disease	Bowed tibiae  - radial anomalies - osteopenia - fractures
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3331	"" []	2041680	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Bowed tibiae  - radial anomalies - osteopenia - fractures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3331	"" []	4398567	\N	\N	EFO	6	EFO	disease	Bowed tibiae  - radial anomalies - osteopenia - fractures
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3331	"" []	3191990	\N	\N	EFO	5	EFO	skeletal system disease	Bowed tibiae  - radial anomalies - osteopenia - fractures
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3331	"" []	3191991	\N	\N	EFO	5	EFO	genetic disorder	Bowed tibiae  - radial anomalies - osteopenia - fractures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3331	"" []	5182735	\N	\N	EFO	7	EFO	disposition	Bowed tibiae  - radial anomalies - osteopenia - fractures
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3331	"" []	4398566	\N	\N	EFO	6	EFO	disease	Bowed tibiae  - radial anomalies - osteopenia - fractures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3331	"" []	5998108	\N	\N	EFO	8	EFO	material property	Bowed tibiae  - radial anomalies - osteopenia - fractures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3331	"" []	6551392	\N	\N	EFO	9	EFO	experimental factor	Bowed tibiae  - radial anomalies - osteopenia - fractures
Orphanet:3332	\N	\N	"" []	Orphanet:3332	"" []	76765	\N	\N	EFO	0	EFO	Hypoplastic tibiae - postaxial polydactyly	Hypoplastic tibiae - postaxial polydactyly
Orphanet:294957	Orphanet:3332	\N	"" []	Orphanet:3332	"" []	219926	\N	\N	EFO	1	EFO	Dysostosis with combined reduction defects of upper and lower limbs	Hypoplastic tibiae - postaxial polydactyly
Orphanet:404571	Orphanet:294957	\N	"" []	Orphanet:3332	"" []	575466	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Hypoplastic tibiae - postaxial polydactyly
Orphanet:404577	Orphanet:294957	\N	"" []	Orphanet:3332	"" []	575467	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Hypoplastic tibiae - postaxial polydactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3332	"" []	1158452	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Hypoplastic tibiae - postaxial polydactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3332	"" []	1158453	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Hypoplastic tibiae - postaxial polydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3332	"" []	2041681	\N	\N	EFO	4	EFO	Rare genetic bone disease	Hypoplastic tibiae - postaxial polydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3332	"" []	2041682	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Hypoplastic tibiae - postaxial polydactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3332	"" []	2041683	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hypoplastic tibiae - postaxial polydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3332	"" []	3191992	\N	\N	EFO	5	EFO	genetic disorder	Hypoplastic tibiae - postaxial polydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3332	"" []	3191993	\N	\N	EFO	5	EFO	bone disease	Hypoplastic tibiae - postaxial polydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3332	"" []	3191994	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hypoplastic tibiae - postaxial polydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3332	"" []	4398570	\N	\N	EFO	6	EFO	genetic disorder	Hypoplastic tibiae - postaxial polydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3332	"" []	5182736	\N	\N	EFO	7	EFO	disease	Hypoplastic tibiae - postaxial polydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3332	"" []	4398569	\N	\N	EFO	6	EFO	skeletal system disease	Hypoplastic tibiae - postaxial polydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3332	"" []	5998109	\N	\N	EFO	8	EFO	disposition	Hypoplastic tibiae - postaxial polydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3332	"" []	5415770	\N	\N	EFO	7	EFO	disease	Hypoplastic tibiae - postaxial polydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3332	"" []	6551393	\N	\N	EFO	9	EFO	material property	Hypoplastic tibiae - postaxial polydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3332	"" []	6889422	\N	\N	EFO	10	EFO	experimental factor	Hypoplastic tibiae - postaxial polydactyly
Orphanet:33355	\N	\N	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	76766	\N	\N	EFO	0	EFO	Reticular dysgenesis	Reticular dysgenesis
Orphanet:317419	Orphanet:33355	\N	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	219927	\N	\N	EFO	1	EFO	T-B- severe combined immunodeficiency	Reticular dysgenesis
Orphanet:183660	Orphanet:317419	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	575468	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	Reticular dysgenesis
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	1158454	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	Reticular dysgenesis
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	2041684	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Reticular dysgenesis
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	3191996	\N	\N	EFO	5	EFO	Primary immunodeficiency	Reticular dysgenesis
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	4398571	\N	\N	EFO	6	EFO	Rare genetic immune disease	Reticular dysgenesis
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	5415771	\N	\N	EFO	7	EFO	genetic disorder	Reticular dysgenesis
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	5415772	\N	\N	EFO	7	EFO	immune system disease	Reticular dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	6151570	\N	\N	EFO	8	EFO	disease	Reticular dysgenesis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	6151571	\N	\N	EFO	8	EFO	disease	Reticular dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	6633720	\N	\N	EFO	9	EFO	disposition	Reticular dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	6926107	\N	\N	EFO	10	EFO	material property	Reticular dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:33355	"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." []	7099276	\N	\N	EFO	11	EFO	experimental factor	Reticular dysgenesis
Orphanet:33364	\N	\N	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	76767	\N	\N	EFO	0	EFO	Trichothiodystrophy	Trichothiodystrophy
Orphanet:399771	Orphanet:33364	\N	"" []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	219928	\N	\N	EFO	1	EFO	Male infertility due to sperm disorder	Trichothiodystrophy
Orphanet:79367	Orphanet:33364	\N	"" []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	219929	\N	\N	EFO	1	EFO	Syndromic hair shaft abnormality	Trichothiodystrophy
Orphanet:79373	Orphanet:33364	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	219930	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Trichothiodystrophy
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	575469	\N	\N	EFO	2	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Trichothiodystrophy
Orphanet:183450	Orphanet:79367	\N	"" []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	575470	\N	\N	EFO	2	EFO	Genetic hair anomaly	Trichothiodystrophy
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	575471	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Trichothiodystrophy
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	575472	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Trichothiodystrophy
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	1158455	\N	\N	EFO	3	EFO	Rare genetic male infertility	Trichothiodystrophy
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	1158456	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Trichothiodystrophy
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	1158457	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trichothiodystrophy
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	2041686	\N	\N	EFO	4	EFO	Rare genetic skin disease	Trichothiodystrophy
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	2041685	\N	\N	EFO	4	EFO	Genetic infertility	Trichothiodystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	2041687	\N	\N	EFO	4	EFO	genetic disorder	Trichothiodystrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	3000311	\N	\N	EFO	5	EFO	genetic disorder	Trichothiodystrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	3000312	\N	\N	EFO	5	EFO	skin disease	Trichothiodystrophy
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	3191997	\N	\N	EFO	5	EFO	genetic disorder	Trichothiodystrophy
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	3191998	\N	\N	EFO	5	EFO	reproductive system disease	Trichothiodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	4133918	\N	\N	EFO	6	EFO	disease	Trichothiodystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	4133919	\N	\N	EFO	6	EFO	disease	Trichothiodystrophy
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	4398572	\N	\N	EFO	6	EFO	disease	Trichothiodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	5182737	\N	\N	EFO	7	EFO	disposition	Trichothiodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	5998110	\N	\N	EFO	8	EFO	material property	Trichothiodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:33364	"Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene." []	6551394	\N	\N	EFO	9	EFO	experimental factor	Trichothiodystrophy
Orphanet:3337	\N	\N	"" []	Orphanet:3337	"" []	76768	\N	\N	EFO	0	EFO	Primary Fanconi syndrome	Primary Fanconi syndrome
Orphanet:183592	Orphanet:3337	\N	"" []	Orphanet:3337	"" []	219931	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Primary Fanconi syndrome
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:3337	"" []	575473	\N	\N	EFO	2	EFO	Rare genetic renal disease	Primary Fanconi syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3337	"" []	1158459	\N	\N	EFO	3	EFO	genetic disorder	Primary Fanconi syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3337	"" []	2041690	\N	\N	EFO	4	EFO	disease	Primary Fanconi syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3337	"" []	3192001	\N	\N	EFO	5	EFO	disposition	Primary Fanconi syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3337	"" []	4398574	\N	\N	EFO	6	EFO	material property	Primary Fanconi syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3337	"" []	5415774	\N	\N	EFO	7	EFO	experimental factor	Primary Fanconi syndrome
Orphanet:3338	\N	\N	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	76769	\N	\N	EFO	0	EFO	Toriello-Carey syndrome	Toriello-Carey syndrome
Orphanet:139039	Orphanet:3338	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	219932	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Toriello-Carey syndrome
Orphanet:269573	Orphanet:3338	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	219933	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Toriello-Carey syndrome
Orphanet:330197	Orphanet:3338	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	219934	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Toriello-Carey syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	575474	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Toriello-Carey syndrome
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	575475	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Toriello-Carey syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	575476	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Toriello-Carey syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	1158460	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Toriello-Carey syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	1158461	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Toriello-Carey syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	1158462	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Toriello-Carey syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	2041691	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Toriello-Carey syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	2041692	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Toriello-Carey syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	2041693	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Toriello-Carey syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	4398575	\N	\N	EFO	6	EFO	genetic disorder	Toriello-Carey syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	3192002	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Toriello-Carey syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	3192004	\N	\N	EFO	5	EFO	genetic disorder	Toriello-Carey syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	5060014	\N	\N	EFO	7	EFO	disease	Toriello-Carey syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	5877381	\N	\N	EFO	8	EFO	disposition	Toriello-Carey syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	6470617	\N	\N	EFO	9	EFO	material property	Toriello-Carey syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3338	"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." []	6848628	\N	\N	EFO	10	EFO	experimental factor	Toriello-Carey syndrome
Orphanet:3339	\N	\N	"" []	Orphanet:3339	"" []	76770	\N	\N	EFO	0	EFO	Toriello-Lacassie-Droste syndrome	Toriello-Lacassie-Droste syndrome
Orphanet:79373	Orphanet:3339	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3339	"" []	219935	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Toriello-Lacassie-Droste syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3339	"" []	575477	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Toriello-Lacassie-Droste syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3339	"" []	575478	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Toriello-Lacassie-Droste syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3339	"" []	1158463	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Toriello-Lacassie-Droste syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3339	"" []	1158464	\N	\N	EFO	3	EFO	Rare genetic skin disease	Toriello-Lacassie-Droste syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3339	"" []	2041695	\N	\N	EFO	4	EFO	genetic disorder	Toriello-Lacassie-Droste syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3339	"" []	2041696	\N	\N	EFO	4	EFO	genetic disorder	Toriello-Lacassie-Droste syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3339	"" []	2041697	\N	\N	EFO	4	EFO	skin disease	Toriello-Lacassie-Droste syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3339	"" []	3192006	\N	\N	EFO	5	EFO	disease	Toriello-Lacassie-Droste syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3339	"" []	3192007	\N	\N	EFO	5	EFO	disease	Toriello-Lacassie-Droste syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3339	"" []	4398577	\N	\N	EFO	6	EFO	disposition	Toriello-Lacassie-Droste syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3339	"" []	5415776	\N	\N	EFO	7	EFO	material property	Toriello-Lacassie-Droste syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3339	"" []	6151574	\N	\N	EFO	8	EFO	experimental factor	Toriello-Lacassie-Droste syndrome
Orphanet:334	\N	\N	"" []	Orphanet:334	"" []	76771	\N	\N	EFO	0	EFO	Familial atrial fibrillation	Familial atrial fibrillation
Orphanet:101934	Orphanet:334	\N	"" []	Orphanet:334	"" []	219936	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Familial atrial fibrillation
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:334	"" []	575479	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Familial atrial fibrillation
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:334	"" []	1158465	\N	\N	EFO	3	EFO	genetic disorder	Familial atrial fibrillation
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:334	"" []	1158466	\N	\N	EFO	3	EFO	heart disease	Familial atrial fibrillation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:334	"" []	2041698	\N	\N	EFO	4	EFO	disease	Familial atrial fibrillation
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:334	"" []	2041699	\N	\N	EFO	4	EFO	cardiovascular disease	Familial atrial fibrillation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:334	"" []	4398579	\N	\N	EFO	6	EFO	disposition	Familial atrial fibrillation
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:334	"" []	3192009	\N	\N	EFO	5	EFO	disease	Familial atrial fibrillation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:334	"" []	5182739	\N	\N	EFO	7	EFO	material property	Familial atrial fibrillation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:334	"" []	5998112	\N	\N	EFO	8	EFO	experimental factor	Familial atrial fibrillation
Orphanet:3341	\N	\N	"" []	Orphanet:3341	"" []	76772	\N	\N	EFO	0	EFO	Torticollis - keloids - cryptorchidism - renal dysplasia	Torticollis - keloids - cryptorchidism - renal dysplasia
Orphanet:165707	Orphanet:3341	\N	"" []	Orphanet:3341	"" []	219937	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Torticollis - keloids - cryptorchidism - renal dysplasia
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:3341	"" []	575480	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Torticollis - keloids - cryptorchidism - renal dysplasia
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:3341	"" []	1158467	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Torticollis - keloids - cryptorchidism - renal dysplasia
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3341	"" []	2041700	\N	\N	EFO	4	EFO	genetic disorder	Torticollis - keloids - cryptorchidism - renal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3341	"" []	3192010	\N	\N	EFO	5	EFO	disease	Torticollis - keloids - cryptorchidism - renal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3341	"" []	4398580	\N	\N	EFO	6	EFO	disposition	Torticollis - keloids - cryptorchidism - renal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3341	"" []	5415778	\N	\N	EFO	7	EFO	material property	Torticollis - keloids - cryptorchidism - renal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3341	"" []	6151575	\N	\N	EFO	8	EFO	experimental factor	Torticollis - keloids - cryptorchidism - renal dysplasia
Orphanet:3342	\N	\N	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	76773	\N	\N	EFO	0	EFO	Arterial tortuosity syndrome	Arterial tortuosity syndrome
Orphanet:209	Orphanet:3342	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	219938	\N	\N	EFO	1	EFO	Cutis laxa	Arterial tortuosity syndrome
Orphanet:285014	Orphanet:3342	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	219939	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Arterial tortuosity syndrome
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	575481	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Arterial tortuosity syndrome
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	575482	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Arterial tortuosity syndrome
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	575483	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Arterial tortuosity syndrome
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	575484	\N	\N	EFO	2	EFO	Congenital entropion	Arterial tortuosity syndrome
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	575485	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Arterial tortuosity syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	1158468	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Arterial tortuosity syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	1158469	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Arterial tortuosity syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	1158470	\N	\N	EFO	3	EFO	Genetic dermis disorder	Arterial tortuosity syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	1158471	\N	\N	EFO	3	EFO	Eyelids malposition disorder	Arterial tortuosity syndrome
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	1158472	\N	\N	EFO	3	EFO	genetic disorder	Arterial tortuosity syndrome
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	1158473	\N	\N	EFO	3	EFO	vascular disease	Arterial tortuosity syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	2041701	\N	\N	EFO	4	EFO	genetic disorder	Arterial tortuosity syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	2041702	\N	\N	EFO	4	EFO	Rare genetic skin disease	Arterial tortuosity syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	2041703	\N	\N	EFO	4	EFO	Rare palpebral disease	Arterial tortuosity syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	6151576	\N	\N	EFO	8	EFO	disease	Arterial tortuosity syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	2041705	\N	\N	EFO	4	EFO	cardiovascular disease	Arterial tortuosity syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	3192012	\N	\N	EFO	5	EFO	genetic disorder	Arterial tortuosity syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	3192013	\N	\N	EFO	5	EFO	skin disease	Arterial tortuosity syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	3192014	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Arterial tortuosity syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	6378931	\N	\N	EFO	9	EFO	disposition	Arterial tortuosity syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	3192016	\N	\N	EFO	5	EFO	disease	Arterial tortuosity syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	4398582	\N	\N	EFO	6	EFO	disease	Arterial tortuosity syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	4398583	\N	\N	EFO	6	EFO	Rare genetic eye disease	Arterial tortuosity syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	6778748	\N	\N	EFO	10	EFO	material property	Arterial tortuosity syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	5415779	\N	\N	EFO	7	EFO	genetic disorder	Arterial tortuosity syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	5415780	\N	\N	EFO	7	EFO	eye disease	Arterial tortuosity syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	7029944	\N	\N	EFO	11	EFO	experimental factor	Arterial tortuosity syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3342	"Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." []	6151577	\N	\N	EFO	8	EFO	disease	Arterial tortuosity syndrome
Orphanet:3344	\N	\N	"" []	Orphanet:3344	"" []	76774	\N	\N	EFO	0	EFO	Weismann-Netter syndrome	Weismann-Netter syndrome
Orphanet:93439	Orphanet:3344	\N	"" []	Orphanet:3344	"" []	219940	\N	\N	EFO	1	EFO	Bent bone dysplasia	Weismann-Netter syndrome
Orphanet:364526	Orphanet:93439	\N	"" []	Orphanet:3344	"" []	575486	\N	\N	EFO	2	EFO	Primary bone dysplasia	Weismann-Netter syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3344	"" []	1158474	\N	\N	EFO	3	EFO	Rare genetic bone disease	Weismann-Netter syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3344	"" []	1158475	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Weismann-Netter syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3344	"" []	2041706	\N	\N	EFO	4	EFO	genetic disorder	Weismann-Netter syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3344	"" []	2041707	\N	\N	EFO	4	EFO	bone disease	Weismann-Netter syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3344	"" []	2041708	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Weismann-Netter syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3344	"" []	4398587	\N	\N	EFO	6	EFO	disease	Weismann-Netter syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3344	"" []	3192018	\N	\N	EFO	5	EFO	skeletal system disease	Weismann-Netter syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3344	"" []	3192019	\N	\N	EFO	5	EFO	genetic disorder	Weismann-Netter syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3344	"" []	5182741	\N	\N	EFO	7	EFO	disposition	Weismann-Netter syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3344	"" []	4398586	\N	\N	EFO	6	EFO	disease	Weismann-Netter syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3344	"" []	5998114	\N	\N	EFO	8	EFO	material property	Weismann-Netter syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3344	"" []	6551396	\N	\N	EFO	9	EFO	experimental factor	Weismann-Netter syndrome
Orphanet:33445	\N	\N	"" []	Orphanet:33445	"" []	76775	\N	\N	EFO	0	EFO	Neuroectodermal melanolysosomal disease	Neuroectodermal melanolysosomal disease
Orphanet:139027	Orphanet:33445	\N	"" []	Orphanet:33445	"" []	219941	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Neuroectodermal melanolysosomal disease
Orphanet:166466	Orphanet:33445	\N	"" []	Orphanet:33445	"" []	219942	\N	\N	EFO	1	EFO	Neurocutaneous syndrome with epilepsy	Neuroectodermal melanolysosomal disease
Orphanet:183466	Orphanet:33445	\N	"" []	Orphanet:33445	"" []	219943	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Neuroectodermal melanolysosomal disease
Orphanet:93460	Orphanet:33445	\N	"" []	Orphanet:33445	"" []	219944	\N	\N	EFO	1	EFO	Overgrowth syndrome	Neuroectodermal melanolysosomal disease
Orphanet:98708	Orphanet:33445	\N	"" []	Orphanet:33445	"" []	219945	\N	\N	EFO	1	EFO	Pigmentation disorder with eye involvement, excluding albinism	Neuroectodermal melanolysosomal disease
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:33445	"" []	575487	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Neuroectodermal melanolysosomal disease
Orphanet:183512	Orphanet:166466	\N	"" []	Orphanet:33445	"" []	575488	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Neuroectodermal melanolysosomal disease
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:33445	"" []	575489	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Neuroectodermal melanolysosomal disease
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:33445	"" []	575490	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Neuroectodermal melanolysosomal disease
Orphanet:98700	Orphanet:98708	\N	"" []	Orphanet:33445	"" []	575491	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement	Neuroectodermal melanolysosomal disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33445	"" []	2041713	\N	\N	EFO	4	EFO	genetic disorder	Neuroectodermal melanolysosomal disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:33445	"" []	1158477	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neuroectodermal melanolysosomal disease
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:33445	"" []	1158478	\N	\N	EFO	3	EFO	Rare genetic skin disease	Neuroectodermal melanolysosomal disease
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:33445	"" []	1158479	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Neuroectodermal melanolysosomal disease
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:33445	"" []	1158480	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Neuroectodermal melanolysosomal disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33445	"" []	4398589	\N	\N	EFO	6	EFO	disease	Neuroectodermal melanolysosomal disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33445	"" []	2041710	\N	\N	EFO	4	EFO	genetic disorder	Neuroectodermal melanolysosomal disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33445	"" []	2041711	\N	\N	EFO	4	EFO	genetic disorder	Neuroectodermal melanolysosomal disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:33445	"" []	2041712	\N	\N	EFO	4	EFO	skin disease	Neuroectodermal melanolysosomal disease
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:33445	"" []	2041714	\N	\N	EFO	4	EFO	Rare genetic eye disease	Neuroectodermal melanolysosomal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:33445	"" []	5060016	\N	\N	EFO	7	EFO	disposition	Neuroectodermal melanolysosomal disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33445	"" []	3192021	\N	\N	EFO	5	EFO	disease	Neuroectodermal melanolysosomal disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33445	"" []	3192022	\N	\N	EFO	5	EFO	genetic disorder	Neuroectodermal melanolysosomal disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:33445	"" []	3192023	\N	\N	EFO	5	EFO	eye disease	Neuroectodermal melanolysosomal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:33445	"" []	5877383	\N	\N	EFO	8	EFO	material property	Neuroectodermal melanolysosomal disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33445	"" []	4398590	\N	\N	EFO	6	EFO	disease	Neuroectodermal melanolysosomal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:33445	"" []	6470619	\N	\N	EFO	9	EFO	experimental factor	Neuroectodermal melanolysosomal disease
Orphanet:335	\N	\N	"" []	Orphanet:335	"" []	76776	\N	\N	EFO	0	EFO	Congenital fibrinogen deficiency	Congenital fibrinogen deficiency
Orphanet:68334	Orphanet:335	\N	"" []	Orphanet:335	"" []	219946	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital fibrinogen deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:335	"" []	575492	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Congenital fibrinogen deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:335	"" []	1158481	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital fibrinogen deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:335	"" []	2041715	\N	\N	EFO	4	EFO	genetic disorder	Congenital fibrinogen deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:335	"" []	2041716	\N	\N	EFO	4	EFO	hematological system disease	Congenital fibrinogen deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:335	"" []	3192024	\N	\N	EFO	5	EFO	disease	Congenital fibrinogen deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:335	"" []	3192025	\N	\N	EFO	5	EFO	disease	Congenital fibrinogen deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:335	"" []	4398591	\N	\N	EFO	6	EFO	disposition	Congenital fibrinogen deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:335	"" []	5415784	\N	\N	EFO	7	EFO	material property	Congenital fibrinogen deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:335	"" []	6151579	\N	\N	EFO	8	EFO	experimental factor	Congenital fibrinogen deficiency
Orphanet:3351	\N	\N	"" []	Orphanet:3351	"" []	76777	\N	\N	EFO	0	EFO	Trichodental syndrome	Trichodental syndrome
Orphanet:183580	Orphanet:3351	\N	"" []	Orphanet:3351	"" []	219947	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Trichodental syndrome
Orphanet:79367	Orphanet:3351	\N	"" []	Orphanet:3351	"" []	219948	\N	\N	EFO	1	EFO	Syndromic hair shaft abnormality	Trichodental syndrome
Orphanet:79373	Orphanet:3351	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3351	"" []	219949	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Trichodental syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:3351	"" []	575493	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Trichodental syndrome
Orphanet:183450	Orphanet:79367	\N	"" []	Orphanet:3351	"" []	575494	\N	\N	EFO	2	EFO	Genetic hair anomaly	Trichodental syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3351	"" []	575495	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Trichodental syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3351	"" []	575496	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Trichodental syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3351	"" []	2041719	\N	\N	EFO	4	EFO	genetic disorder	Trichodental syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:3351	"" []	1158483	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Trichodental syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3351	"" []	1158484	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trichodental syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3351	"" []	2041718	\N	\N	EFO	4	EFO	Rare genetic skin disease	Trichodental syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3351	"" []	4133924	\N	\N	EFO	6	EFO	disease	Trichodental syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3351	"" []	3000315	\N	\N	EFO	5	EFO	genetic disorder	Trichodental syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3351	"" []	3000316	\N	\N	EFO	5	EFO	skin disease	Trichodental syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3351	"" []	5060017	\N	\N	EFO	7	EFO	disposition	Trichodental syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3351	"" []	4133925	\N	\N	EFO	6	EFO	disease	Trichodental syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3351	"" []	5877384	\N	\N	EFO	8	EFO	material property	Trichodental syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3351	"" []	6470620	\N	\N	EFO	9	EFO	experimental factor	Trichodental syndrome
Orphanet:3352	\N	\N	"" []	Orphanet:3352	"" []	76778	\N	\N	EFO	0	EFO	Tricho-dento-osseous syndrome	Tricho-dento-osseous syndrome
Orphanet:183580	Orphanet:3352	\N	"" []	Orphanet:3352	"" []	219950	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Tricho-dento-osseous syndrome
Orphanet:79367	Orphanet:3352	\N	"" []	Orphanet:3352	"" []	219951	\N	\N	EFO	1	EFO	Syndromic hair shaft abnormality	Tricho-dento-osseous syndrome
Orphanet:79373	Orphanet:3352	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3352	"" []	219952	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Tricho-dento-osseous syndrome
Orphanet:93444	Orphanet:3352	\N	"" []	Orphanet:3352	"" []	219953	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Tricho-dento-osseous syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:3352	"" []	575497	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Tricho-dento-osseous syndrome
Orphanet:183450	Orphanet:79367	\N	"" []	Orphanet:3352	"" []	575498	\N	\N	EFO	2	EFO	Genetic hair anomaly	Tricho-dento-osseous syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3352	"" []	575499	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Tricho-dento-osseous syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3352	"" []	575500	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Tricho-dento-osseous syndrome
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:3352	"" []	575501	\N	\N	EFO	2	EFO	Primary bone dysplasia	Tricho-dento-osseous syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3352	"" []	3192031	\N	\N	EFO	5	EFO	genetic disorder	Tricho-dento-osseous syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:3352	"" []	1158487	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Tricho-dento-osseous syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3352	"" []	1158488	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Tricho-dento-osseous syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3352	"" []	2041723	\N	\N	EFO	4	EFO	Rare genetic skin disease	Tricho-dento-osseous syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3352	"" []	1158490	\N	\N	EFO	3	EFO	Rare genetic bone disease	Tricho-dento-osseous syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3352	"" []	1158491	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Tricho-dento-osseous syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3352	"" []	4066940	\N	\N	EFO	6	EFO	disease	Tricho-dento-osseous syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3352	"" []	3000318	\N	\N	EFO	5	EFO	genetic disorder	Tricho-dento-osseous syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3352	"" []	3000319	\N	\N	EFO	5	EFO	skin disease	Tricho-dento-osseous syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3352	"" []	2041727	\N	\N	EFO	4	EFO	genetic disorder	Tricho-dento-osseous syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3352	"" []	2041728	\N	\N	EFO	4	EFO	bone disease	Tricho-dento-osseous syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3352	"" []	2041729	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Tricho-dento-osseous syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3352	"" []	5060018	\N	\N	EFO	7	EFO	disposition	Tricho-dento-osseous syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3352	"" []	4133927	\N	\N	EFO	6	EFO	disease	Tricho-dento-osseous syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3352	"" []	3192030	\N	\N	EFO	5	EFO	skeletal system disease	Tricho-dento-osseous syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3352	"" []	5877385	\N	\N	EFO	8	EFO	material property	Tricho-dento-osseous syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3352	"" []	4398594	\N	\N	EFO	6	EFO	disease	Tricho-dento-osseous syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3352	"" []	6470621	\N	\N	EFO	9	EFO	experimental factor	Tricho-dento-osseous syndrome
Orphanet:3353	\N	\N	"" []	Orphanet:3353	"" []	76779	\N	\N	EFO	0	EFO	Trichodermodysplasia - dental alterations	Trichodermodysplasia - dental alterations
Orphanet:183580	Orphanet:3353	\N	"" []	Orphanet:3353	"" []	219954	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Trichodermodysplasia - dental alterations
Orphanet:79373	Orphanet:3353	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3353	"" []	219955	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Trichodermodysplasia - dental alterations
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:3353	"" []	575502	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Trichodermodysplasia - dental alterations
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3353	"" []	575503	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Trichodermodysplasia - dental alterations
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3353	"" []	575504	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Trichodermodysplasia - dental alterations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3353	"" []	2041731	\N	\N	EFO	4	EFO	genetic disorder	Trichodermodysplasia - dental alterations
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3353	"" []	1158493	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trichodermodysplasia - dental alterations
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3353	"" []	1158494	\N	\N	EFO	3	EFO	Rare genetic skin disease	Trichodermodysplasia - dental alterations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3353	"" []	3000320	\N	\N	EFO	5	EFO	disease	Trichodermodysplasia - dental alterations
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3353	"" []	2041732	\N	\N	EFO	4	EFO	genetic disorder	Trichodermodysplasia - dental alterations
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3353	"" []	2041733	\N	\N	EFO	4	EFO	skin disease	Trichodermodysplasia - dental alterations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3353	"" []	4133928	\N	\N	EFO	6	EFO	disposition	Trichodermodysplasia - dental alterations
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3353	"" []	3192033	\N	\N	EFO	5	EFO	disease	Trichodermodysplasia - dental alterations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3353	"" []	5182745	\N	\N	EFO	7	EFO	material property	Trichodermodysplasia - dental alterations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3353	"" []	5998118	\N	\N	EFO	8	EFO	experimental factor	Trichodermodysplasia - dental alterations
Orphanet:3354	\N	\N	"" []	Orphanet:3354	"" []	76780	\N	\N	EFO	0	EFO	Tricho-oculo-dermo-vertebral syndrome	Tricho-oculo-dermo-vertebral syndrome
Orphanet:79373	Orphanet:3354	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3354	"" []	219956	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Tricho-oculo-dermo-vertebral syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3354	"" []	575505	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Tricho-oculo-dermo-vertebral syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3354	"" []	575506	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Tricho-oculo-dermo-vertebral syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3354	"" []	1158495	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Tricho-oculo-dermo-vertebral syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3354	"" []	1158496	\N	\N	EFO	3	EFO	Rare genetic skin disease	Tricho-oculo-dermo-vertebral syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3354	"" []	2041734	\N	\N	EFO	4	EFO	genetic disorder	Tricho-oculo-dermo-vertebral syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3354	"" []	2041735	\N	\N	EFO	4	EFO	genetic disorder	Tricho-oculo-dermo-vertebral syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3354	"" []	2041736	\N	\N	EFO	4	EFO	skin disease	Tricho-oculo-dermo-vertebral syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3354	"" []	3192034	\N	\N	EFO	5	EFO	disease	Tricho-oculo-dermo-vertebral syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3354	"" []	3192035	\N	\N	EFO	5	EFO	disease	Tricho-oculo-dermo-vertebral syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3354	"" []	4398596	\N	\N	EFO	6	EFO	disposition	Tricho-oculo-dermo-vertebral syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3354	"" []	5415788	\N	\N	EFO	7	EFO	material property	Tricho-oculo-dermo-vertebral syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3354	"" []	6151580	\N	\N	EFO	8	EFO	experimental factor	Tricho-oculo-dermo-vertebral syndrome
Orphanet:3355	\N	\N	"" []	Orphanet:3355	"" []	76781	\N	\N	EFO	0	EFO	Trichoodontoonychial dysplasia	Trichoodontoonychial dysplasia
Orphanet:183580	Orphanet:3355	\N	"" []	Orphanet:3355	"" []	219957	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Trichoodontoonychial dysplasia
Orphanet:79373	Orphanet:3355	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3355	"" []	219958	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Trichoodontoonychial dysplasia
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:3355	"" []	575507	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Trichoodontoonychial dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3355	"" []	575508	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Trichoodontoonychial dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3355	"" []	575509	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Trichoodontoonychial dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3355	"" []	2041738	\N	\N	EFO	4	EFO	genetic disorder	Trichoodontoonychial dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3355	"" []	1158498	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trichoodontoonychial dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3355	"" []	1158499	\N	\N	EFO	3	EFO	Rare genetic skin disease	Trichoodontoonychial dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3355	"" []	3000321	\N	\N	EFO	5	EFO	disease	Trichoodontoonychial dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3355	"" []	2041739	\N	\N	EFO	4	EFO	genetic disorder	Trichoodontoonychial dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3355	"" []	2041740	\N	\N	EFO	4	EFO	skin disease	Trichoodontoonychial dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3355	"" []	4133929	\N	\N	EFO	6	EFO	disposition	Trichoodontoonychial dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3355	"" []	3192037	\N	\N	EFO	5	EFO	disease	Trichoodontoonychial dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3355	"" []	5182746	\N	\N	EFO	7	EFO	material property	Trichoodontoonychial dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3355	"" []	5998119	\N	\N	EFO	8	EFO	experimental factor	Trichoodontoonychial dysplasia
Orphanet:3357	\N	\N	"" []	Orphanet:3357	"" []	76782	\N	\N	EFO	0	EFO	Autosomal dominant trichoodontoonychodysplasia-syndactyly	Autosomal dominant trichoodontoonychodysplasia-syndactyly
Orphanet:183580	Orphanet:3357	\N	"" []	Orphanet:3357	"" []	219959	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Autosomal dominant trichoodontoonychodysplasia-syndactyly
Orphanet:79373	Orphanet:3357	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3357	"" []	219960	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Autosomal dominant trichoodontoonychodysplasia-syndactyly
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:3357	"" []	575510	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant trichoodontoonychodysplasia-syndactyly
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3357	"" []	575511	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Autosomal dominant trichoodontoonychodysplasia-syndactyly
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3357	"" []	575512	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Autosomal dominant trichoodontoonychodysplasia-syndactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3357	"" []	2041742	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant trichoodontoonychodysplasia-syndactyly
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3357	"" []	1158501	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant trichoodontoonychodysplasia-syndactyly
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3357	"" []	1158502	\N	\N	EFO	3	EFO	Rare genetic skin disease	Autosomal dominant trichoodontoonychodysplasia-syndactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3357	"" []	3000322	\N	\N	EFO	5	EFO	disease	Autosomal dominant trichoodontoonychodysplasia-syndactyly
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3357	"" []	2041743	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant trichoodontoonychodysplasia-syndactyly
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3357	"" []	2041744	\N	\N	EFO	4	EFO	skin disease	Autosomal dominant trichoodontoonychodysplasia-syndactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3357	"" []	4133930	\N	\N	EFO	6	EFO	disposition	Autosomal dominant trichoodontoonychodysplasia-syndactyly
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3357	"" []	3192039	\N	\N	EFO	5	EFO	disease	Autosomal dominant trichoodontoonychodysplasia-syndactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3357	"" []	5182747	\N	\N	EFO	7	EFO	material property	Autosomal dominant trichoodontoonychodysplasia-syndactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3357	"" []	5998120	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant trichoodontoonychodysplasia-syndactyly
Orphanet:33572	\N	\N	"" []	Orphanet:33572	"" []	76783	\N	\N	EFO	0	EFO	5-oxoprolinase deficiency	5-oxoprolinase deficiency
Orphanet:79196	Orphanet:33572	\N	"" []	Orphanet:33572	"" []	219961	\N	\N	EFO	1	EFO	Disorder of the gamma-glutamyl cycle	5-oxoprolinase deficiency
Orphanet:79062	Orphanet:79196	\N	"" []	Orphanet:33572	"" []	575513	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	5-oxoprolinase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:33572	"" []	1158503	\N	\N	EFO	3	EFO	Inborn errors of metabolism	5-oxoprolinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33572	"" []	2041745	\N	\N	EFO	4	EFO	genetic disorder	5-oxoprolinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:33572	"" []	2041746	\N	\N	EFO	4	EFO	metabolic disease	5-oxoprolinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33572	"" []	3192040	\N	\N	EFO	5	EFO	disease	5-oxoprolinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33572	"" []	3192041	\N	\N	EFO	5	EFO	disease	5-oxoprolinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:33572	"" []	4398599	\N	\N	EFO	6	EFO	disposition	5-oxoprolinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:33572	"" []	5415791	\N	\N	EFO	7	EFO	material property	5-oxoprolinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:33572	"" []	6151581	\N	\N	EFO	8	EFO	experimental factor	5-oxoprolinase deficiency
Orphanet:33573	\N	\N	"" []	Orphanet:33573	"" []	76784	\N	\N	EFO	0	EFO	Gamma-glutamyl transpeptidase deficiency	Gamma-glutamyl transpeptidase deficiency
Orphanet:79196	Orphanet:33573	\N	"" []	Orphanet:33573	"" []	219962	\N	\N	EFO	1	EFO	Disorder of the gamma-glutamyl cycle	Gamma-glutamyl transpeptidase deficiency
Orphanet:79062	Orphanet:79196	\N	"" []	Orphanet:33573	"" []	575514	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Gamma-glutamyl transpeptidase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:33573	"" []	1158504	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Gamma-glutamyl transpeptidase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33573	"" []	2041747	\N	\N	EFO	4	EFO	genetic disorder	Gamma-glutamyl transpeptidase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:33573	"" []	2041748	\N	\N	EFO	4	EFO	metabolic disease	Gamma-glutamyl transpeptidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33573	"" []	3192042	\N	\N	EFO	5	EFO	disease	Gamma-glutamyl transpeptidase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33573	"" []	3192043	\N	\N	EFO	5	EFO	disease	Gamma-glutamyl transpeptidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:33573	"" []	4398600	\N	\N	EFO	6	EFO	disposition	Gamma-glutamyl transpeptidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:33573	"" []	5415792	\N	\N	EFO	7	EFO	material property	Gamma-glutamyl transpeptidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:33573	"" []	6151582	\N	\N	EFO	8	EFO	experimental factor	Gamma-glutamyl transpeptidase deficiency
Orphanet:33574	\N	\N	"" []	Orphanet:33574	"" []	76785	\N	\N	EFO	0	EFO	Gamma-glutamylcysteine synthetase deficiency	Gamma-glutamylcysteine synthetase deficiency
Orphanet:79196	Orphanet:33574	\N	"" []	Orphanet:33574	"" []	219963	\N	\N	EFO	1	EFO	Disorder of the gamma-glutamyl cycle	Gamma-glutamylcysteine synthetase deficiency
Orphanet:98370	Orphanet:33574	\N	"" []	Orphanet:33574	"" []	219964	\N	\N	EFO	1	EFO	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	Gamma-glutamylcysteine synthetase deficiency
Orphanet:79062	Orphanet:79196	\N	"" []	Orphanet:33574	"" []	575515	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Gamma-glutamylcysteine synthetase deficiency
Orphanet:98369	Orphanet:98370	\N	"" []	Orphanet:33574	"" []	575516	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Gamma-glutamylcysteine synthetase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:33574	"" []	1158505	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Gamma-glutamylcysteine synthetase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:33574	"" []	1158506	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Gamma-glutamylcysteine synthetase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33574	"" []	2041749	\N	\N	EFO	4	EFO	genetic disorder	Gamma-glutamylcysteine synthetase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:33574	"" []	2041750	\N	\N	EFO	4	EFO	metabolic disease	Gamma-glutamylcysteine synthetase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:33574	"" []	2041751	\N	\N	EFO	4	EFO	Rare constitutional anemia	Gamma-glutamylcysteine synthetase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33574	"" []	5415794	\N	\N	EFO	7	EFO	disease	Gamma-glutamylcysteine synthetase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33574	"" []	3192045	\N	\N	EFO	5	EFO	disease	Gamma-glutamylcysteine synthetase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:33574	"" []	3192046	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Gamma-glutamylcysteine synthetase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:33574	"" []	5877386	\N	\N	EFO	8	EFO	disposition	Gamma-glutamylcysteine synthetase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:33574	"" []	4398602	\N	\N	EFO	6	EFO	genetic disorder	Gamma-glutamylcysteine synthetase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:33574	"" []	4398603	\N	\N	EFO	6	EFO	hematological system disease	Gamma-glutamylcysteine synthetase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:33574	"" []	6470622	\N	\N	EFO	9	EFO	material property	Gamma-glutamylcysteine synthetase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:33574	"" []	5415795	\N	\N	EFO	7	EFO	disease	Gamma-glutamylcysteine synthetase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:33574	"" []	6848629	\N	\N	EFO	10	EFO	experimental factor	Gamma-glutamylcysteine synthetase deficiency
Orphanet:3361	\N	\N	"" []	Orphanet:3361	"" []	76786	\N	\N	EFO	0	EFO	Trichodysplasia - xeroderma	Trichodysplasia - xeroderma
Orphanet:79367	Orphanet:3361	\N	"" []	Orphanet:3361	"" []	219965	\N	\N	EFO	1	EFO	Syndromic hair shaft abnormality	Trichodysplasia - xeroderma
Orphanet:183450	Orphanet:79367	\N	"" []	Orphanet:3361	"" []	575517	\N	\N	EFO	2	EFO	Genetic hair anomaly	Trichodysplasia - xeroderma
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:3361	"" []	1158507	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Trichodysplasia - xeroderma
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3361	"" []	2041752	\N	\N	EFO	4	EFO	Rare genetic skin disease	Trichodysplasia - xeroderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3361	"" []	3192047	\N	\N	EFO	5	EFO	genetic disorder	Trichodysplasia - xeroderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3361	"" []	3192048	\N	\N	EFO	5	EFO	skin disease	Trichodysplasia - xeroderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3361	"" []	4398604	\N	\N	EFO	6	EFO	disease	Trichodysplasia - xeroderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3361	"" []	4398605	\N	\N	EFO	6	EFO	disease	Trichodysplasia - xeroderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3361	"" []	5415796	\N	\N	EFO	7	EFO	disposition	Trichodysplasia - xeroderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3361	"" []	6151584	\N	\N	EFO	8	EFO	material property	Trichodysplasia - xeroderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3361	"" []	6633721	\N	\N	EFO	9	EFO	experimental factor	Trichodysplasia - xeroderma
Orphanet:3362	\N	\N	"" []	Orphanet:3362	"" []	76787	\N	\N	EFO	0	EFO	Trichomegaly - cataract - hereditary spherocytosis	Trichomegaly - cataract - hereditary spherocytosis
Orphanet:79373	Orphanet:3362	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3362	"" []	219966	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Trichomegaly - cataract - hereditary spherocytosis
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3362	"" []	575518	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Trichomegaly - cataract - hereditary spherocytosis
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3362	"" []	575519	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Trichomegaly - cataract - hereditary spherocytosis
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3362	"" []	1158508	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trichomegaly - cataract - hereditary spherocytosis
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3362	"" []	1158509	\N	\N	EFO	3	EFO	Rare genetic skin disease	Trichomegaly - cataract - hereditary spherocytosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3362	"" []	2041753	\N	\N	EFO	4	EFO	genetic disorder	Trichomegaly - cataract - hereditary spherocytosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3362	"" []	2041754	\N	\N	EFO	4	EFO	genetic disorder	Trichomegaly - cataract - hereditary spherocytosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3362	"" []	2041755	\N	\N	EFO	4	EFO	skin disease	Trichomegaly - cataract - hereditary spherocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3362	"" []	3192049	\N	\N	EFO	5	EFO	disease	Trichomegaly - cataract - hereditary spherocytosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3362	"" []	3192050	\N	\N	EFO	5	EFO	disease	Trichomegaly - cataract - hereditary spherocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3362	"" []	4398606	\N	\N	EFO	6	EFO	disposition	Trichomegaly - cataract - hereditary spherocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3362	"" []	5415797	\N	\N	EFO	7	EFO	material property	Trichomegaly - cataract - hereditary spherocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3362	"" []	6151585	\N	\N	EFO	8	EFO	experimental factor	Trichomegaly - cataract - hereditary spherocytosis
Orphanet:3363	\N	\N	"" []	Orphanet:3363	"" []	76788	\N	\N	EFO	0	EFO	Trichomegaly - retina pigmentary degeneration - dwarfism	Trichomegaly - retina pigmentary degeneration - dwarfism
Orphanet:79373	Orphanet:3363	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3363	"" []	219967	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Trichomegaly - retina pigmentary degeneration - dwarfism
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3363	"" []	575520	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Trichomegaly - retina pigmentary degeneration - dwarfism
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3363	"" []	575521	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Trichomegaly - retina pigmentary degeneration - dwarfism
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3363	"" []	1158510	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trichomegaly - retina pigmentary degeneration - dwarfism
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3363	"" []	1158511	\N	\N	EFO	3	EFO	Rare genetic skin disease	Trichomegaly - retina pigmentary degeneration - dwarfism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3363	"" []	2041756	\N	\N	EFO	4	EFO	genetic disorder	Trichomegaly - retina pigmentary degeneration - dwarfism
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3363	"" []	2041757	\N	\N	EFO	4	EFO	genetic disorder	Trichomegaly - retina pigmentary degeneration - dwarfism
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3363	"" []	2041758	\N	\N	EFO	4	EFO	skin disease	Trichomegaly - retina pigmentary degeneration - dwarfism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3363	"" []	3192051	\N	\N	EFO	5	EFO	disease	Trichomegaly - retina pigmentary degeneration - dwarfism
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3363	"" []	3192052	\N	\N	EFO	5	EFO	disease	Trichomegaly - retina pigmentary degeneration - dwarfism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3363	"" []	4398607	\N	\N	EFO	6	EFO	disposition	Trichomegaly - retina pigmentary degeneration - dwarfism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3363	"" []	5415798	\N	\N	EFO	7	EFO	material property	Trichomegaly - retina pigmentary degeneration - dwarfism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3363	"" []	6151586	\N	\N	EFO	8	EFO	experimental factor	Trichomegaly - retina pigmentary degeneration - dwarfism
Orphanet:3365	\N	\N	"" []	Orphanet:3365	"" []	76789	\N	\N	EFO	0	EFO	Trigonocephaly - broad thumbs	Trigonocephaly - broad thumbs
Orphanet:139393	Orphanet:3365	\N	"" []	Orphanet:3365	"" []	219968	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Trigonocephaly - broad thumbs
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:3365	"" []	575522	\N	\N	EFO	2	EFO	Craniosynostosis	Trigonocephaly - broad thumbs
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:3365	"" []	1158512	\N	\N	EFO	3	EFO	Genetic cranial malformation	Trigonocephaly - broad thumbs
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:3365	"" []	1158513	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Trigonocephaly - broad thumbs
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:3365	"" []	2041759	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Trigonocephaly - broad thumbs
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3365	"" []	2041760	\N	\N	EFO	4	EFO	Rare genetic bone disease	Trigonocephaly - broad thumbs
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3365	"" []	2041761	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Trigonocephaly - broad thumbs
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3365	"" []	4398610	\N	\N	EFO	6	EFO	genetic disorder	Trigonocephaly - broad thumbs
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3365	"" []	3192054	\N	\N	EFO	5	EFO	genetic disorder	Trigonocephaly - broad thumbs
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3365	"" []	3192055	\N	\N	EFO	5	EFO	bone disease	Trigonocephaly - broad thumbs
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3365	"" []	3192056	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Trigonocephaly - broad thumbs
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3365	"" []	5182748	\N	\N	EFO	7	EFO	disease	Trigonocephaly - broad thumbs
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3365	"" []	4398609	\N	\N	EFO	6	EFO	skeletal system disease	Trigonocephaly - broad thumbs
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3365	"" []	5998121	\N	\N	EFO	8	EFO	disposition	Trigonocephaly - broad thumbs
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3365	"" []	5415800	\N	\N	EFO	7	EFO	disease	Trigonocephaly - broad thumbs
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3365	"" []	6551397	\N	\N	EFO	9	EFO	material property	Trigonocephaly - broad thumbs
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3365	"" []	6889423	\N	\N	EFO	10	EFO	experimental factor	Trigonocephaly - broad thumbs
Orphanet:3366	\N	\N	"" []	Orphanet:3366	"" []	76790	\N	\N	EFO	0	EFO	Isolated trigonocephaly	Isolated trigonocephaly
Orphanet:139390	Orphanet:3366	\N	"" []	Orphanet:3366	"" []	219969	\N	\N	EFO	1	EFO	Isolated craniosynostosis	Isolated trigonocephaly
Orphanet:98684	Orphanet:3366	\N	"" []	Orphanet:3366	"" []	219970	\N	\N	EFO	1	EFO	Craniostenosis associated with a strabismus	Isolated trigonocephaly
Orphanet:1531	Orphanet:139390	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:3366	"" []	575523	\N	\N	EFO	2	EFO	Craniosynostosis	Isolated trigonocephaly
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:3366	"" []	575524	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Isolated trigonocephaly
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:3366	"" []	1158514	\N	\N	EFO	3	EFO	Genetic cranial malformation	Isolated trigonocephaly
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:3366	"" []	1158515	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Isolated trigonocephaly
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:3366	"" []	1158516	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Isolated trigonocephaly
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:3366	"" []	2041762	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated trigonocephaly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3366	"" []	2041763	\N	\N	EFO	4	EFO	Rare genetic bone disease	Isolated trigonocephaly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3366	"" []	2041764	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Isolated trigonocephaly
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:3366	"" []	2041765	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Isolated trigonocephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3366	"" []	4398613	\N	\N	EFO	6	EFO	genetic disorder	Isolated trigonocephaly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3366	"" []	3192058	\N	\N	EFO	5	EFO	genetic disorder	Isolated trigonocephaly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3366	"" []	3192059	\N	\N	EFO	5	EFO	bone disease	Isolated trigonocephaly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3366	"" []	3192060	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated trigonocephaly
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:3366	"" []	3192061	\N	\N	EFO	5	EFO	Rare genetic eye disease	Isolated trigonocephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3366	"" []	5182749	\N	\N	EFO	7	EFO	disease	Isolated trigonocephaly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3366	"" []	4398612	\N	\N	EFO	6	EFO	skeletal system disease	Isolated trigonocephaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3366	"" []	4398614	\N	\N	EFO	6	EFO	genetic disorder	Isolated trigonocephaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3366	"" []	4398615	\N	\N	EFO	6	EFO	eye disease	Isolated trigonocephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3366	"" []	5998122	\N	\N	EFO	8	EFO	disposition	Isolated trigonocephaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3366	"" []	5415802	\N	\N	EFO	7	EFO	disease	Isolated trigonocephaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3366	"" []	5415803	\N	\N	EFO	7	EFO	disease	Isolated trigonocephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3366	"" []	6551398	\N	\N	EFO	9	EFO	material property	Isolated trigonocephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3366	"" []	6889424	\N	\N	EFO	10	EFO	experimental factor	Isolated trigonocephaly
Orphanet:3368	\N	\N	"" []	Orphanet:3368	"" []	76791	\N	\N	EFO	0	EFO	Trigonocephaly - bifid nose - acral anomalies	Trigonocephaly - bifid nose - acral anomalies
Orphanet:330206	Orphanet:3368	\N	"" []	Orphanet:3368	"" []	219971	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Trigonocephaly - bifid nose - acral anomalies
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3368	"" []	575525	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Trigonocephaly - bifid nose - acral anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3368	"" []	1158517	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trigonocephaly - bifid nose - acral anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3368	"" []	2041766	\N	\N	EFO	4	EFO	genetic disorder	Trigonocephaly - bifid nose - acral anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3368	"" []	3192062	\N	\N	EFO	5	EFO	disease	Trigonocephaly - bifid nose - acral anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3368	"" []	4398616	\N	\N	EFO	6	EFO	disposition	Trigonocephaly - bifid nose - acral anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3368	"" []	5415804	\N	\N	EFO	7	EFO	material property	Trigonocephaly - bifid nose - acral anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3368	"" []	6151589	\N	\N	EFO	8	EFO	experimental factor	Trigonocephaly - bifid nose - acral anomalies
Orphanet:3369	\N	\N	"" []	Orphanet:3369	"" []	76792	\N	\N	EFO	0	EFO	Trigonocephaly - short stature - developmental delay	Trigonocephaly - short stature - developmental delay
Orphanet:102283	Orphanet:3369	\N	"" []	Orphanet:3369	"" []	219972	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Trigonocephaly - short stature - developmental delay
Orphanet:139393	Orphanet:3369	\N	"" []	Orphanet:3369	"" []	219973	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Trigonocephaly - short stature - developmental delay
Orphanet:98464	Orphanet:3369	\N	"" []	Orphanet:3369	"" []	219974	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Trigonocephaly - short stature - developmental delay
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3369	"" []	575526	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Trigonocephaly - short stature - developmental delay
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:3369	"" []	575527	\N	\N	EFO	2	EFO	Craniosynostosis	Trigonocephaly - short stature - developmental delay
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3369	"" []	575528	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Trigonocephaly - short stature - developmental delay
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3369	"" []	1158518	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trigonocephaly - short stature - developmental delay
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:3369	"" []	1158519	\N	\N	EFO	3	EFO	Genetic cranial malformation	Trigonocephaly - short stature - developmental delay
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:3369	"" []	1158520	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Trigonocephaly - short stature - developmental delay
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3369	"" []	1158521	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Trigonocephaly - short stature - developmental delay
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3369	"" []	4398619	\N	\N	EFO	6	EFO	genetic disorder	Trigonocephaly - short stature - developmental delay
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:3369	"" []	2041768	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Trigonocephaly - short stature - developmental delay
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3369	"" []	2041769	\N	\N	EFO	4	EFO	Rare genetic bone disease	Trigonocephaly - short stature - developmental delay
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3369	"" []	2041770	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Trigonocephaly - short stature - developmental delay
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3369	"" []	2041771	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Trigonocephaly - short stature - developmental delay
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3369	"" []	5060019	\N	\N	EFO	7	EFO	disease	Trigonocephaly - short stature - developmental delay
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3369	"" []	3192065	\N	\N	EFO	5	EFO	genetic disorder	Trigonocephaly - short stature - developmental delay
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3369	"" []	3192066	\N	\N	EFO	5	EFO	bone disease	Trigonocephaly - short stature - developmental delay
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3369	"" []	3192067	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Trigonocephaly - short stature - developmental delay
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3369	"" []	3192068	\N	\N	EFO	5	EFO	genetic disorder	Trigonocephaly - short stature - developmental delay
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3369	"" []	5877387	\N	\N	EFO	8	EFO	disposition	Trigonocephaly - short stature - developmental delay
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3369	"" []	4398618	\N	\N	EFO	6	EFO	skeletal system disease	Trigonocephaly - short stature - developmental delay
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3369	"" []	6470623	\N	\N	EFO	9	EFO	material property	Trigonocephaly - short stature - developmental delay
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3369	"" []	5415806	\N	\N	EFO	7	EFO	disease	Trigonocephaly - short stature - developmental delay
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3369	"" []	6848630	\N	\N	EFO	10	EFO	experimental factor	Trigonocephaly - short stature - developmental delay
Orphanet:337	\N	\N	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	76793	\N	\N	EFO	0	EFO	Fibrodysplasia ossificans progressiva	Fibrodysplasia ossificans progressiva
Orphanet:183484	Orphanet:337	\N	"" []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	219975	\N	\N	EFO	1	EFO	Genetic subcutaneous tissue disorder	Fibrodysplasia ossificans progressiva
Orphanet:364531	Orphanet:337	\N	"" []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	219976	\N	\N	EFO	1	EFO	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	Fibrodysplasia ossificans progressiva
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	575529	\N	\N	EFO	2	EFO	Rare genetic skin disease	Fibrodysplasia ossificans progressiva
Orphanet:364526	Orphanet:364531	\N	"" []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	575530	\N	\N	EFO	2	EFO	Primary bone dysplasia	Fibrodysplasia ossificans progressiva
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	1158522	\N	\N	EFO	3	EFO	genetic disorder	Fibrodysplasia ossificans progressiva
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	1158523	\N	\N	EFO	3	EFO	skin disease	Fibrodysplasia ossificans progressiva
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	1158524	\N	\N	EFO	3	EFO	Rare genetic bone disease	Fibrodysplasia ossificans progressiva
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	1158525	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Fibrodysplasia ossificans progressiva
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	4398622	\N	\N	EFO	6	EFO	disease	Fibrodysplasia ossificans progressiva
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	2041773	\N	\N	EFO	4	EFO	disease	Fibrodysplasia ossificans progressiva
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	2041774	\N	\N	EFO	4	EFO	genetic disorder	Fibrodysplasia ossificans progressiva
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	2041775	\N	\N	EFO	4	EFO	bone disease	Fibrodysplasia ossificans progressiva
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	2041776	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Fibrodysplasia ossificans progressiva
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	5060020	\N	\N	EFO	7	EFO	disposition	Fibrodysplasia ossificans progressiva
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	3192071	\N	\N	EFO	5	EFO	skeletal system disease	Fibrodysplasia ossificans progressiva
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	3192072	\N	\N	EFO	5	EFO	genetic disorder	Fibrodysplasia ossificans progressiva
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	5877388	\N	\N	EFO	8	EFO	material property	Fibrodysplasia ossificans progressiva
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	4398621	\N	\N	EFO	6	EFO	disease	Fibrodysplasia ossificans progressiva
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:337	"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." []	6470624	\N	\N	EFO	9	EFO	experimental factor	Fibrodysplasia ossificans progressiva
Orphanet:3375	\N	\N	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	76794	\N	\N	EFO	0	EFO	Trisomy X	Trisomy X
Orphanet:263723	Orphanet:3375	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	219977	\N	\N	EFO	1	EFO	Polysomy of X chromosome	Trisomy X
Orphanet:400022	Orphanet:3375	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	219978	\N	\N	EFO	1	EFO	Rare female infertility due to an anomaly of ovarian function of genetic origin	Trisomy X
Orphanet:95710	Orphanet:3375	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	219979	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	Trisomy X
Orphanet:263717	Orphanet:263723	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	575531	\N	\N	EFO	2	EFO	X chromosome number anomaly with female phenotype	Trisomy X
EFO:0005771	Orphanet:400022	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	575532	\N	\N	EFO	2	EFO	ovarian disease	Trisomy X
Orphanet:400011	Orphanet:400022	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	575533	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Trisomy X
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	575534	\N	\N	EFO	2	EFO	ovarian disease	Trisomy X
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	575535	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Trisomy X
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	575536	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Trisomy X
Orphanet:263714	Orphanet:263717	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	1158526	\N	\N	EFO	3	EFO	X chromosome number anomaly	Trisomy X
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	1158527	\N	\N	EFO	3	EFO	reproductive system disease	Trisomy X
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	1158528	\N	\N	EFO	3	EFO	Rare genetic female infertility	Trisomy X
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	1158529	\N	\N	EFO	3	EFO	genetic disorder	Trisomy X
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	1158530	\N	\N	EFO	3	EFO	endocrine system disease	Trisomy X
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	1158531	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Trisomy X
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	2041777	\N	\N	EFO	4	EFO	Gonosome number anomaly	Trisomy X
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	4398626	\N	\N	EFO	6	EFO	disease	Trisomy X
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	2041779	\N	\N	EFO	4	EFO	Genetic infertility	Trisomy X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	6151591	\N	\N	EFO	8	EFO	disease	Trisomy X
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	2041781	\N	\N	EFO	4	EFO	disease	Trisomy X
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	2041782	\N	\N	EFO	4	EFO	genetic disorder	Trisomy X
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	2041783	\N	\N	EFO	4	EFO	reproductive system disease	Trisomy X
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	3192073	\N	\N	EFO	5	EFO	Gonosome anomaly	Trisomy X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	6378932	\N	\N	EFO	9	EFO	disposition	Trisomy X
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	3192075	\N	\N	EFO	5	EFO	genetic disorder	Trisomy X
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	3192076	\N	\N	EFO	5	EFO	reproductive system disease	Trisomy X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	4398623	\N	\N	EFO	6	EFO	Chromosomal anomaly	Trisomy X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	6778749	\N	\N	EFO	10	EFO	material property	Trisomy X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	5415808	\N	\N	EFO	7	EFO	genetic disorder	Trisomy X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3375	"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." []	7029945	\N	\N	EFO	11	EFO	experimental factor	Trisomy X
Orphanet:3376	\N	\N	"" []	Orphanet:3376	"" []	76795	\N	\N	EFO	0	EFO	Triploidy	Triploidy
Orphanet:240371	Orphanet:3376	\N	"" []	Orphanet:3376	"" []	219980	\N	\N	EFO	1	EFO	Syndromic obesity	Triploidy
Orphanet:96321	Orphanet:3376	\N	"" []	Orphanet:3376	"" []	219981	\N	\N	EFO	1	EFO	Polyploidy	Triploidy
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:3376	"" []	575537	\N	\N	EFO	2	EFO	Genetic obesity	Triploidy
Orphanet:68335	Orphanet:96321	\N	"" []	Orphanet:3376	"" []	575538	\N	\N	EFO	2	EFO	Chromosomal anomaly	Triploidy
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:3376	"" []	1158532	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Triploidy
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:3376	"" []	1158533	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Triploidy
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3376	"" []	1158534	\N	\N	EFO	3	EFO	genetic disorder	Triploidy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3376	"" []	2041784	\N	\N	EFO	4	EFO	genetic disorder	Triploidy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3376	"" []	2041785	\N	\N	EFO	4	EFO	endocrine system disease	Triploidy
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:3376	"" []	2041786	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Triploidy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3376	"" []	4398627	\N	\N	EFO	6	EFO	disease	Triploidy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3376	"" []	3192080	\N	\N	EFO	5	EFO	disease	Triploidy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3376	"" []	3192081	\N	\N	EFO	5	EFO	genetic disorder	Triploidy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3376	"" []	5060022	\N	\N	EFO	7	EFO	disposition	Triploidy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3376	"" []	5877390	\N	\N	EFO	8	EFO	material property	Triploidy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3376	"" []	6470626	\N	\N	EFO	9	EFO	experimental factor	Triploidy
Orphanet:3377	\N	\N	"" []	Orphanet:3377	"" []	76796	\N	\N	EFO	0	EFO	Trismus - pseudocamptodactyly	Trismus - pseudocamptodactyly
Orphanet:97120	Orphanet:3377	\N	"" []	Orphanet:3377	"" []	219982	\N	\N	EFO	1	EFO	Distal arthrogryposis	Trismus - pseudocamptodactyly
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:3377	"" []	575539	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Trismus - pseudocamptodactyly
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:3377	"" []	1158535	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Trismus - pseudocamptodactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3377	"" []	2041788	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Trismus - pseudocamptodactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3377	"" []	3192083	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Trismus - pseudocamptodactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3377	"" []	4398629	\N	\N	EFO	6	EFO	genetic disorder	Trismus - pseudocamptodactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3377	"" []	5415811	\N	\N	EFO	7	EFO	disease	Trismus - pseudocamptodactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3377	"" []	6151592	\N	\N	EFO	8	EFO	disposition	Trismus - pseudocamptodactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3377	"" []	6633724	\N	\N	EFO	9	EFO	material property	Trismus - pseudocamptodactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3377	"" []	6926108	\N	\N	EFO	10	EFO	experimental factor	Trismus - pseudocamptodactyly
Orphanet:3378	\N	\N	"" []	Orphanet:3378	"" []	76797	\N	\N	EFO	0	EFO	Trisomy 13	Trisomy 13
Orphanet:117573	Orphanet:3378	\N	"" []	Orphanet:3378	"" []	219983	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Trisomy 13
Orphanet:93547	Orphanet:3378	\N	"" []	Orphanet:3378	"" []	219984	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Trisomy 13
Orphanet:98131	Orphanet:3378	\N	"" []	Orphanet:3378	"" []	219985	\N	\N	EFO	1	EFO	Total autosomal trisomy	Trisomy 13
Orphanet:98669	Orphanet:3378	\N	"" []	Orphanet:3378	"" []	219986	\N	\N	EFO	1	EFO	Congenital vitreoretinal dysplasia	Trisomy 13
Orphanet:98683	Orphanet:3378	\N	"" []	Orphanet:3378	"" []	219987	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Trisomy 13
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:3378	"" []	575540	\N	\N	EFO	2	EFO	Anorectal malformation	Trisomy 13
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:3378	"" []	575541	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Trisomy 13
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:3378	"" []	575542	\N	\N	EFO	2	EFO	Autosomal trisomy	Trisomy 13
Orphanet:98668	Orphanet:98669	\N	"" []	Orphanet:3378	"" []	575543	\N	\N	EFO	2	EFO	Vitreoretinopathy	Trisomy 13
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:3378	"" []	575544	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Trisomy 13
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:3378	"" []	1158536	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Trisomy 13
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:3378	"" []	1158537	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trisomy 13
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:3378	"" []	1158538	\N	\N	EFO	3	EFO	Rare genetic renal disease	Trisomy 13
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:3378	"" []	1158539	\N	\N	EFO	3	EFO	Autosomal anomaly	Trisomy 13
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:3378	"" []	1158540	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Trisomy 13
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:3378	"" []	1158541	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Trisomy 13
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:3378	"" []	2041789	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Trisomy 13
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3378	"" []	3192084	\N	\N	EFO	5	EFO	genetic disorder	Trisomy 13
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3378	"" []	2041791	\N	\N	EFO	4	EFO	genetic disorder	Trisomy 13
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:3378	"" []	2041792	\N	\N	EFO	4	EFO	Chromosomal anomaly	Trisomy 13
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:3378	"" []	2041793	\N	\N	EFO	4	EFO	Rare genetic eye disease	Trisomy 13
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:3378	"" []	2041794	\N	\N	EFO	4	EFO	Rare genetic eye disease	Trisomy 13
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3378	"" []	4133935	\N	\N	EFO	6	EFO	disease	Trisomy 13
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3378	"" []	3192086	\N	\N	EFO	5	EFO	genetic disorder	Trisomy 13
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3378	"" []	3192087	\N	\N	EFO	5	EFO	genetic disorder	Trisomy 13
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3378	"" []	3192088	\N	\N	EFO	5	EFO	eye disease	Trisomy 13
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3378	"" []	5182754	\N	\N	EFO	7	EFO	disposition	Trisomy 13
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3378	"" []	4398631	\N	\N	EFO	6	EFO	disease	Trisomy 13
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3378	"" []	5998127	\N	\N	EFO	8	EFO	material property	Trisomy 13
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3378	"" []	6551400	\N	\N	EFO	9	EFO	experimental factor	Trisomy 13
Orphanet:3379	\N	\N	"" []	Orphanet:3379	"" []	76798	\N	\N	EFO	0	EFO	Distal trisomy 17q	Distal trisomy 17q
Orphanet:262968	Orphanet:3379	\N	"" []	Orphanet:3379	"" []	219988	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 17	Distal trisomy 17q
Orphanet:262677	Orphanet:262968	\N	"" []	Orphanet:3379	"" []	575545	\N	\N	EFO	2	EFO	Partial duplication of chromosome 17	Distal trisomy 17q
Orphanet:98132	Orphanet:262677	\N	"" []	Orphanet:3379	"" []	1158542	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 17q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:3379	"" []	2041795	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 17q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:3379	"" []	3192089	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 17q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:3379	"" []	4398632	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 17q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3379	"" []	5415813	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 17q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3379	"" []	6151594	\N	\N	EFO	8	EFO	disease	Distal trisomy 17q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3379	"" []	6633725	\N	\N	EFO	9	EFO	disposition	Distal trisomy 17q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3379	"" []	6926109	\N	\N	EFO	10	EFO	material property	Distal trisomy 17q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3379	"" []	7099277	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 17q
Orphanet:338	\N	\N	"" []	Orphanet:338	"" []	76799	\N	\N	EFO	0	EFO	Familial multiple fibrofolliculoma	Familial multiple fibrofolliculoma
Orphanet:183487	Orphanet:338	\N	"" []	Orphanet:338	"" []	219989	\N	\N	EFO	1	EFO	Genetic skin tumor	Familial multiple fibrofolliculoma
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:338	"" []	575546	\N	\N	EFO	2	EFO	skin neoplasm	Familial multiple fibrofolliculoma
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:338	"" []	575547	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial multiple fibrofolliculoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:338	"" []	1158543	\N	\N	EFO	3	EFO	neoplasm	Familial multiple fibrofolliculoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:338	"" []	1158544	\N	\N	EFO	3	EFO	skin disease	Familial multiple fibrofolliculoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:338	"" []	1158545	\N	\N	EFO	3	EFO	genetic disorder	Familial multiple fibrofolliculoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:338	"" []	1158546	\N	\N	EFO	3	EFO	neoplasm	Familial multiple fibrofolliculoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:338	"" []	2041796	\N	\N	EFO	4	EFO	disease	Familial multiple fibrofolliculoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:338	"" []	2041797	\N	\N	EFO	4	EFO	disease	Familial multiple fibrofolliculoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:338	"" []	2041798	\N	\N	EFO	4	EFO	disease	Familial multiple fibrofolliculoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:338	"" []	3192090	\N	\N	EFO	5	EFO	disposition	Familial multiple fibrofolliculoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:338	"" []	4398633	\N	\N	EFO	6	EFO	material property	Familial multiple fibrofolliculoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:338	"" []	5415814	\N	\N	EFO	7	EFO	experimental factor	Familial multiple fibrofolliculoma
Orphanet:3380	\N	\N	"" []	Orphanet:3380	"" []	76800	\N	\N	EFO	0	EFO	Trisomy 18	Trisomy 18
Orphanet:117573	Orphanet:3380	\N	"" []	Orphanet:3380	"" []	219990	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Trisomy 18
Orphanet:93547	Orphanet:3380	\N	"" []	Orphanet:3380	"" []	219991	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Trisomy 18
Orphanet:98131	Orphanet:3380	\N	"" []	Orphanet:3380	"" []	219992	\N	\N	EFO	1	EFO	Total autosomal trisomy	Trisomy 18
Orphanet:98596	Orphanet:3380	\N	"" []	Orphanet:3380	"" []	219993	\N	\N	EFO	1	EFO	Eyebrow hypertrophy	Trisomy 18
Orphanet:98600	Orphanet:3380	\N	"" []	Orphanet:3380	"" []	219994	\N	\N	EFO	1	EFO	Eyebrow/eyelashes distichiasis	Trisomy 18
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:3380	"" []	575548	\N	\N	EFO	2	EFO	Anorectal malformation	Trisomy 18
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:3380	"" []	575549	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Trisomy 18
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:3380	"" []	575550	\N	\N	EFO	2	EFO	Autosomal trisomy	Trisomy 18
Orphanet:98594	Orphanet:98596	\N	"" []	Orphanet:3380	"" []	575551	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Trisomy 18
Orphanet:98594	Orphanet:98600	\N	"" []	Orphanet:3380	"" []	575552	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Trisomy 18
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:3380	"" []	1158547	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Trisomy 18
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:3380	"" []	1158548	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trisomy 18
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:3380	"" []	1158549	\N	\N	EFO	3	EFO	Rare genetic renal disease	Trisomy 18
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:3380	"" []	1158550	\N	\N	EFO	3	EFO	Autosomal anomaly	Trisomy 18
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:3380	"" []	1158551	\N	\N	EFO	3	EFO	Rare palpebral disease	Trisomy 18
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:3380	"" []	2041799	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Trisomy 18
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3380	"" []	3192091	\N	\N	EFO	5	EFO	genetic disorder	Trisomy 18
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3380	"" []	2041801	\N	\N	EFO	4	EFO	genetic disorder	Trisomy 18
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:3380	"" []	2041802	\N	\N	EFO	4	EFO	Chromosomal anomaly	Trisomy 18
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:3380	"" []	2041803	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Trisomy 18
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3380	"" []	5415816	\N	\N	EFO	7	EFO	disease	Trisomy 18
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3380	"" []	3192093	\N	\N	EFO	5	EFO	genetic disorder	Trisomy 18
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:3380	"" []	3192094	\N	\N	EFO	5	EFO	Rare genetic eye disease	Trisomy 18
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3380	"" []	5877391	\N	\N	EFO	8	EFO	disposition	Trisomy 18
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3380	"" []	4398635	\N	\N	EFO	6	EFO	genetic disorder	Trisomy 18
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3380	"" []	4398636	\N	\N	EFO	6	EFO	eye disease	Trisomy 18
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3380	"" []	6470627	\N	\N	EFO	9	EFO	material property	Trisomy 18
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3380	"" []	5415817	\N	\N	EFO	7	EFO	disease	Trisomy 18
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3380	"" []	6848631	\N	\N	EFO	10	EFO	experimental factor	Trisomy 18
Orphanet:3383	\N	\N	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	76801	\N	\N	EFO	0	EFO	Humerus trochlea aplasia	Humerus trochlea aplasia
Orphanet:404574	Orphanet:3383	\N	"" []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	219995	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Humerus trochlea aplasia
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	575553	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humerus trochlea aplasia
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	575554	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Humerus trochlea aplasia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	1158552	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Humerus trochlea aplasia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	1158553	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Humerus trochlea aplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	2041804	\N	\N	EFO	4	EFO	Rare genetic bone disease	Humerus trochlea aplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	2041805	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Humerus trochlea aplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	2041806	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Humerus trochlea aplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	3192095	\N	\N	EFO	5	EFO	genetic disorder	Humerus trochlea aplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	3192096	\N	\N	EFO	5	EFO	bone disease	Humerus trochlea aplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	3192097	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humerus trochlea aplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	4398639	\N	\N	EFO	6	EFO	genetic disorder	Humerus trochlea aplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	5182756	\N	\N	EFO	7	EFO	disease	Humerus trochlea aplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	4398638	\N	\N	EFO	6	EFO	skeletal system disease	Humerus trochlea aplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	5998129	\N	\N	EFO	8	EFO	disposition	Humerus trochlea aplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	5415819	\N	\N	EFO	7	EFO	disease	Humerus trochlea aplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	6551402	\N	\N	EFO	9	EFO	material property	Humerus trochlea aplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3383	"Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." []	6889425	\N	\N	EFO	10	EFO	experimental factor	Humerus trochlea aplasia
Orphanet:3387	\N	\N	"" []	Orphanet:3387	"" []	76802	\N	\N	EFO	0	EFO	Isolated anterior cervical hypertrichosis	Isolated anterior cervical hypertrichosis
Orphanet:79365	Orphanet:3387	\N	"" []	Orphanet:3387	"" []	219996	\N	\N	EFO	1	EFO	Hypertrichosis	Isolated anterior cervical hypertrichosis
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:3387	"" []	575555	\N	\N	EFO	2	EFO	Genetic hair anomaly	Isolated anterior cervical hypertrichosis
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:3387	"" []	1158554	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Isolated anterior cervical hypertrichosis
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3387	"" []	2041807	\N	\N	EFO	4	EFO	Rare genetic skin disease	Isolated anterior cervical hypertrichosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3387	"" []	3192099	\N	\N	EFO	5	EFO	genetic disorder	Isolated anterior cervical hypertrichosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3387	"" []	3192100	\N	\N	EFO	5	EFO	skin disease	Isolated anterior cervical hypertrichosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3387	"" []	4398640	\N	\N	EFO	6	EFO	disease	Isolated anterior cervical hypertrichosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3387	"" []	4398641	\N	\N	EFO	6	EFO	disease	Isolated anterior cervical hypertrichosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3387	"" []	5415820	\N	\N	EFO	7	EFO	disposition	Isolated anterior cervical hypertrichosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3387	"" []	6151597	\N	\N	EFO	8	EFO	material property	Isolated anterior cervical hypertrichosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3387	"" []	6633727	\N	\N	EFO	9	EFO	experimental factor	Isolated anterior cervical hypertrichosis
Orphanet:3388	\N	\N	"" []	Orphanet:3388	"" []	76803	\N	\N	EFO	0	EFO	Neural tube defect	Neural tube defect
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:3388	"" []	219997	\N	\N	EFO	1	EFO	Genetic non-syndromic central nervous system malformation	Neural tube defect
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:3388	"" []	575556	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Neural tube defect
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:3388	"" []	1158555	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Neural tube defect
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:3388	"" []	1158556	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neural tube defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3388	"" []	2041808	\N	\N	EFO	4	EFO	genetic disorder	Neural tube defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3388	"" []	2041809	\N	\N	EFO	4	EFO	genetic disorder	Neural tube defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3388	"" []	3192101	\N	\N	EFO	5	EFO	disease	Neural tube defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3388	"" []	4398642	\N	\N	EFO	6	EFO	disposition	Neural tube defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3388	"" []	5415821	\N	\N	EFO	7	EFO	material property	Neural tube defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3388	"" []	6151598	\N	\N	EFO	8	EFO	experimental factor	Neural tube defect
Orphanet:3389	\N	\N	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	Orphanet:3389	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	76804	\N	\N	EFO	0	EFO	Tuberculosis	Tuberculosis
EFO:0000684	Orphanet:3389	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:3389	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	219998	\N	\N	EFO	1	EFO	respiratory system disease	Tuberculosis
EFO:0000771	Orphanet:3389	\N	"A bacterial disease is a disease factor that is caused primarily by bacteria." []	Orphanet:3389	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	219999	\N	\N	EFO	1	EFO	bacterial disease	Tuberculosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3389	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	575557	\N	\N	EFO	2	EFO	disease	Tuberculosis
EFO:0005741	EFO:0000771	\N	"A disease whose physical basis is an infectious agent" []	Orphanet:3389	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	575558	\N	\N	EFO	2	EFO	infectious disease	Tuberculosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3389	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	2041811	\N	\N	EFO	4	EFO	disposition	Tuberculosis
EFO:0000408	EFO:0005741	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3389	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	1158558	\N	\N	EFO	3	EFO	disease	Tuberculosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3389	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	3000323	\N	\N	EFO	5	EFO	material property	Tuberculosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3389	"that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency." []	4133937	\N	\N	EFO	6	EFO	experimental factor	Tuberculosis
Orphanet:3390	\N	\N	"" []	Orphanet:3390	"" []	76805	\N	\N	EFO	0	EFO	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
Orphanet:254793	Orphanet:3390	\N	"" []	Orphanet:3390	"" []	220000	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
Orphanet:93593	Orphanet:3390	\N	"" []	Orphanet:3390	"" []	220001	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
Orphanet:254758	Orphanet:254793	\N	"" []	Orphanet:3390	"" []	575559	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:3390	"" []	575560	\N	\N	EFO	2	EFO	Rare genetic renal disease	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:3390	"" []	1158559	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3390	"" []	1158560	\N	\N	EFO	3	EFO	genetic disorder	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:3390	"" []	2041812	\N	\N	EFO	4	EFO	Mitochondrial disease	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3390	"" []	6151599	\N	\N	EFO	8	EFO	disease	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:3390	"" []	3192103	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:3390	"" []	3192104	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3390	"" []	6378933	\N	\N	EFO	9	EFO	disposition	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:3390	"" []	4398643	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:3390	"" []	4398644	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3390	"" []	6778750	\N	\N	EFO	10	EFO	material property	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3390	"" []	5415822	\N	\N	EFO	7	EFO	genetic disorder	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3390	"" []	5415823	\N	\N	EFO	7	EFO	genetic disorder	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3390	"" []	5415824	\N	\N	EFO	7	EFO	metabolic disease	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3390	"" []	7029946	\N	\N	EFO	11	EFO	experimental factor	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3390	"" []	6151600	\N	\N	EFO	8	EFO	disease	Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
Orphanet:3402	\N	\N	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	Orphanet:3402	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	76806	\N	\N	EFO	0	EFO	Transient tyrosinemia of the newborn	Transient tyrosinemia of the newborn
Orphanet:284818	Orphanet:3402	\N	"" []	Orphanet:3402	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	220002	\N	\N	EFO	1	EFO	Disorder of tyrosine metabolism	Transient tyrosinemia of the newborn
Orphanet:79190	Orphanet:284818	\N	"" []	Orphanet:3402	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	575561	\N	\N	EFO	2	EFO	Disorder of phenylalanin or tyrosine metabolism	Transient tyrosinemia of the newborn
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:3402	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	1158561	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Transient tyrosinemia of the newborn
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:3402	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	2041814	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Transient tyrosinemia of the newborn
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3402	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	3192106	\N	\N	EFO	5	EFO	genetic disorder	Transient tyrosinemia of the newborn
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3402	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	3192107	\N	\N	EFO	5	EFO	metabolic disease	Transient tyrosinemia of the newborn
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3402	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	4398646	\N	\N	EFO	6	EFO	disease	Transient tyrosinemia of the newborn
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3402	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	4398647	\N	\N	EFO	6	EFO	disease	Transient tyrosinemia of the newborn
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3402	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	5415826	\N	\N	EFO	7	EFO	disposition	Transient tyrosinemia of the newborn
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3402	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	6151601	\N	\N	EFO	8	EFO	material property	Transient tyrosinemia of the newborn
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3402	"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." []	6633728	\N	\N	EFO	9	EFO	experimental factor	Transient tyrosinemia of the newborn
Orphanet:3404	\N	\N	"" []	Orphanet:3404	"" []	76807	\N	\N	EFO	0	EFO	Ulbright-Hodes syndrome	Ulbright-Hodes syndrome
Orphanet:102283	Orphanet:3404	\N	"" []	Orphanet:3404	"" []	220003	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Ulbright-Hodes syndrome
Orphanet:183763	Orphanet:3404	\N	"" []	Orphanet:3404	"" []	220004	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Ulbright-Hodes syndrome
Orphanet:93547	Orphanet:3404	\N	"" []	Orphanet:3404	"" []	220005	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Ulbright-Hodes syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3404	"" []	575562	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ulbright-Hodes syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3404	"" []	575563	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Ulbright-Hodes syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:3404	"" []	575564	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Ulbright-Hodes syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3404	"" []	1158562	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ulbright-Hodes syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3404	"" []	1158563	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ulbright-Hodes syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:3404	"" []	1158564	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ulbright-Hodes syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:3404	"" []	1158565	\N	\N	EFO	3	EFO	Rare genetic renal disease	Ulbright-Hodes syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3404	"" []	2041815	\N	\N	EFO	4	EFO	genetic disorder	Ulbright-Hodes syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3404	"" []	2041816	\N	\N	EFO	4	EFO	genetic disorder	Ulbright-Hodes syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3404	"" []	2041817	\N	\N	EFO	4	EFO	genetic disorder	Ulbright-Hodes syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3404	"" []	3192108	\N	\N	EFO	5	EFO	disease	Ulbright-Hodes syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3404	"" []	4398648	\N	\N	EFO	6	EFO	disposition	Ulbright-Hodes syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3404	"" []	5415827	\N	\N	EFO	7	EFO	material property	Ulbright-Hodes syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3404	"" []	6151602	\N	\N	EFO	8	EFO	experimental factor	Ulbright-Hodes syndrome
Orphanet:3405	\N	\N	"" []	Orphanet:3405	"" []	76808	\N	\N	EFO	0	EFO	Umbilical cord ulceration - intestinal atresia	Umbilical cord ulceration - intestinal atresia
Orphanet:108969	Orphanet:3405	\N	"" []	Orphanet:3405	"" []	220006	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Umbilical cord ulceration - intestinal atresia
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:3405	"" []	575565	\N	\N	EFO	2	EFO	Intestinal malformation	Umbilical cord ulceration - intestinal atresia
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:3405	"" []	1158566	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Umbilical cord ulceration - intestinal atresia
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:3405	"" []	2041818	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Umbilical cord ulceration - intestinal atresia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3405	"" []	3192109	\N	\N	EFO	5	EFO	genetic disorder	Umbilical cord ulceration - intestinal atresia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3405	"" []	4398649	\N	\N	EFO	6	EFO	disease	Umbilical cord ulceration - intestinal atresia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3405	"" []	5415828	\N	\N	EFO	7	EFO	disposition	Umbilical cord ulceration - intestinal atresia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3405	"" []	6151603	\N	\N	EFO	8	EFO	material property	Umbilical cord ulceration - intestinal atresia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3405	"" []	6633729	\N	\N	EFO	9	EFO	experimental factor	Umbilical cord ulceration - intestinal atresia
Orphanet:3406	\N	\N	"" []	Orphanet:3406	"" []	76809	\N	\N	EFO	0	EFO	Ulerythema ophryogenesis	Ulerythema ophryogenesis
Orphanet:498	Orphanet:3406	\N	"" []	Orphanet:3406	"" []	220007	\N	\N	EFO	1	EFO	Keratosis pilaris atrophicans	Ulerythema ophryogenesis
Orphanet:79360	Orphanet:498	\N	"" []	Orphanet:3406	"" []	575566	\N	\N	EFO	2	EFO	Other genetic epidermal disease	Ulerythema ophryogenesis
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:3406	"" []	1158567	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Ulerythema ophryogenesis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:3406	"" []	2041819	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ulerythema ophryogenesis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3406	"" []	3192110	\N	\N	EFO	5	EFO	genetic disorder	Ulerythema ophryogenesis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3406	"" []	3192111	\N	\N	EFO	5	EFO	skin disease	Ulerythema ophryogenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3406	"" []	4398650	\N	\N	EFO	6	EFO	disease	Ulerythema ophryogenesis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3406	"" []	4398651	\N	\N	EFO	6	EFO	disease	Ulerythema ophryogenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3406	"" []	5415829	\N	\N	EFO	7	EFO	disposition	Ulerythema ophryogenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3406	"" []	6151604	\N	\N	EFO	8	EFO	material property	Ulerythema ophryogenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3406	"" []	6633730	\N	\N	EFO	9	EFO	experimental factor	Ulerythema ophryogenesis
Orphanet:3408	\N	\N	"" []	Orphanet:3408	"" []	76810	\N	\N	EFO	0	EFO	Upington disease	Upington disease
Orphanet:93450	Orphanet:3408	\N	"" []	Orphanet:3408	"" []	220008	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Upington disease
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:3408	"" []	575567	\N	\N	EFO	2	EFO	Primary bone dysplasia	Upington disease
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3408	"" []	1158568	\N	\N	EFO	3	EFO	Rare genetic bone disease	Upington disease
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3408	"" []	1158569	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Upington disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3408	"" []	2041820	\N	\N	EFO	4	EFO	genetic disorder	Upington disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3408	"" []	2041821	\N	\N	EFO	4	EFO	bone disease	Upington disease
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3408	"" []	2041822	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Upington disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3408	"" []	4398654	\N	\N	EFO	6	EFO	disease	Upington disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3408	"" []	3192113	\N	\N	EFO	5	EFO	skeletal system disease	Upington disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3408	"" []	3192114	\N	\N	EFO	5	EFO	genetic disorder	Upington disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3408	"" []	5182757	\N	\N	EFO	7	EFO	disposition	Upington disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3408	"" []	4398653	\N	\N	EFO	6	EFO	disease	Upington disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3408	"" []	5998130	\N	\N	EFO	8	EFO	material property	Upington disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3408	"" []	6551403	\N	\N	EFO	9	EFO	experimental factor	Upington disease
Orphanet:3409	\N	\N	"" []	Orphanet:3409	"" []	76811	\N	\N	EFO	0	EFO	Urban-Rogers-Meyer syndrome	Urban-Rogers-Meyer syndrome
Orphanet:102283	Orphanet:3409	\N	"" []	Orphanet:3409	"" []	220009	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Urban-Rogers-Meyer syndrome
Orphanet:183763	Orphanet:3409	\N	"" []	Orphanet:3409	"" []	220010	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Urban-Rogers-Meyer syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3409	"" []	575568	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Urban-Rogers-Meyer syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3409	"" []	575569	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Urban-Rogers-Meyer syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3409	"" []	1158570	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Urban-Rogers-Meyer syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3409	"" []	1158571	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Urban-Rogers-Meyer syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3409	"" []	2041823	\N	\N	EFO	4	EFO	genetic disorder	Urban-Rogers-Meyer syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3409	"" []	2041824	\N	\N	EFO	4	EFO	genetic disorder	Urban-Rogers-Meyer syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3409	"" []	3192115	\N	\N	EFO	5	EFO	disease	Urban-Rogers-Meyer syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3409	"" []	4398655	\N	\N	EFO	6	EFO	disposition	Urban-Rogers-Meyer syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3409	"" []	5415831	\N	\N	EFO	7	EFO	material property	Urban-Rogers-Meyer syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3409	"" []	6151606	\N	\N	EFO	8	EFO	experimental factor	Urban-Rogers-Meyer syndrome
Orphanet:3411	\N	\N	"" []	Orphanet:3411	"" []	76812	\N	\N	EFO	0	EFO	Double uterus - hemivagina - renal agenesis	Double uterus - hemivagina - renal agenesis
Orphanet:165707	Orphanet:3411	\N	"" []	Orphanet:3411	"" []	220011	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Double uterus - hemivagina - renal agenesis
Orphanet:93547	Orphanet:3411	\N	"" []	Orphanet:3411	"" []	220012	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Double uterus - hemivagina - renal agenesis
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:3411	"" []	575570	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Double uterus - hemivagina - renal agenesis
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:3411	"" []	575571	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Double uterus - hemivagina - renal agenesis
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:3411	"" []	1158572	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Double uterus - hemivagina - renal agenesis
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:3411	"" []	1158573	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Double uterus - hemivagina - renal agenesis
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:3411	"" []	1158574	\N	\N	EFO	3	EFO	Rare genetic renal disease	Double uterus - hemivagina - renal agenesis
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3411	"" []	2041825	\N	\N	EFO	4	EFO	genetic disorder	Double uterus - hemivagina - renal agenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3411	"" []	2041826	\N	\N	EFO	4	EFO	genetic disorder	Double uterus - hemivagina - renal agenesis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3411	"" []	2041827	\N	\N	EFO	4	EFO	genetic disorder	Double uterus - hemivagina - renal agenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3411	"" []	3192116	\N	\N	EFO	5	EFO	disease	Double uterus - hemivagina - renal agenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3411	"" []	4398656	\N	\N	EFO	6	EFO	disposition	Double uterus - hemivagina - renal agenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3411	"" []	5415832	\N	\N	EFO	7	EFO	material property	Double uterus - hemivagina - renal agenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3411	"" []	6151607	\N	\N	EFO	8	EFO	experimental factor	Double uterus - hemivagina - renal agenesis
Orphanet:3412	\N	\N	"" []	Orphanet:3412	"" []	76813	\N	\N	EFO	0	EFO	VACTERL with hydrocephalus	VACTERL with hydrocephalus
Orphanet:102283	Orphanet:3412	\N	"" []	Orphanet:3412	"" []	220013	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	VACTERL with hydrocephalus
Orphanet:117573	Orphanet:3412	\N	"" []	Orphanet:3412	"" []	220014	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	VACTERL with hydrocephalus
Orphanet:98464	Orphanet:3412	\N	"" []	Orphanet:3412	"" []	220015	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	VACTERL with hydrocephalus
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3412	"" []	575572	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	VACTERL with hydrocephalus
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:3412	"" []	575573	\N	\N	EFO	2	EFO	Anorectal malformation	VACTERL with hydrocephalus
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3412	"" []	575574	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	VACTERL with hydrocephalus
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3412	"" []	1158575	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	VACTERL with hydrocephalus
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:3412	"" []	1158576	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	VACTERL with hydrocephalus
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3412	"" []	1158577	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	VACTERL with hydrocephalus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3412	"" []	3192118	\N	\N	EFO	5	EFO	genetic disorder	VACTERL with hydrocephalus
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:3412	"" []	2041829	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	VACTERL with hydrocephalus
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3412	"" []	2041830	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	VACTERL with hydrocephalus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3412	"" []	4133938	\N	\N	EFO	6	EFO	disease	VACTERL with hydrocephalus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3412	"" []	3192119	\N	\N	EFO	5	EFO	genetic disorder	VACTERL with hydrocephalus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3412	"" []	5182758	\N	\N	EFO	7	EFO	disposition	VACTERL with hydrocephalus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3412	"" []	5998131	\N	\N	EFO	8	EFO	material property	VACTERL with hydrocephalus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3412	"" []	6551404	\N	\N	EFO	9	EFO	experimental factor	VACTERL with hydrocephalus
Orphanet:34149	\N	\N	"" []	Orphanet:34149	"" []	76814	\N	\N	EFO	0	EFO	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Orphanet:93587	Orphanet:34149	\N	"" []	Orphanet:34149	"" []	220016	\N	\N	EFO	1	EFO	Familial cystic renal disease	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:34149	"" []	575575	\N	\N	EFO	2	EFO	kidney disease	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:34149	"" []	575576	\N	\N	EFO	2	EFO	Rare genetic renal disease	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34149	"" []	1158578	\N	\N	EFO	3	EFO	disease	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34149	"" []	1158579	\N	\N	EFO	3	EFO	genetic disorder	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34149	"" []	3192121	\N	\N	EFO	5	EFO	disposition	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34149	"" []	2041832	\N	\N	EFO	4	EFO	disease	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34149	"" []	4133939	\N	\N	EFO	6	EFO	material property	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34149	"" []	5182759	\N	\N	EFO	7	EFO	experimental factor	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Orphanet:3416	\N	\N	"" []	Orphanet:3416	"" []	76815	\N	\N	EFO	0	EFO	Hyperostosis corticalis generalisata	Hyperostosis corticalis generalisata
Orphanet:93444	Orphanet:3416	\N	"" []	Orphanet:3416	"" []	220017	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Hyperostosis corticalis generalisata
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:3416	"" []	575577	\N	\N	EFO	2	EFO	Primary bone dysplasia	Hyperostosis corticalis generalisata
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3416	"" []	1158580	\N	\N	EFO	3	EFO	Rare genetic bone disease	Hyperostosis corticalis generalisata
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3416	"" []	1158581	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Hyperostosis corticalis generalisata
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3416	"" []	2041833	\N	\N	EFO	4	EFO	genetic disorder	Hyperostosis corticalis generalisata
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3416	"" []	2041834	\N	\N	EFO	4	EFO	bone disease	Hyperostosis corticalis generalisata
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3416	"" []	2041835	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hyperostosis corticalis generalisata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3416	"" []	4398661	\N	\N	EFO	6	EFO	disease	Hyperostosis corticalis generalisata
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3416	"" []	3192123	\N	\N	EFO	5	EFO	skeletal system disease	Hyperostosis corticalis generalisata
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3416	"" []	3192124	\N	\N	EFO	5	EFO	genetic disorder	Hyperostosis corticalis generalisata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3416	"" []	5182760	\N	\N	EFO	7	EFO	disposition	Hyperostosis corticalis generalisata
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3416	"" []	4398660	\N	\N	EFO	6	EFO	disease	Hyperostosis corticalis generalisata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3416	"" []	5998132	\N	\N	EFO	8	EFO	material property	Hyperostosis corticalis generalisata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3416	"" []	6551405	\N	\N	EFO	9	EFO	experimental factor	Hyperostosis corticalis generalisata
Orphanet:3417	\N	\N	"" []	Orphanet:3417	"" []	76816	\N	\N	EFO	0	EFO	Van den Bosch syndrome	Van den Bosch syndrome
Orphanet:183441	Orphanet:3417	\N	"" []	Orphanet:3417	"" []	220018	\N	\N	EFO	1	EFO	Genetic acrokeratoderma	Van den Bosch syndrome
Orphanet:98464	Orphanet:3417	\N	"" []	Orphanet:3417	"" []	220019	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Van den Bosch syndrome
Orphanet:183426	Orphanet:183441	\N	"" []	Orphanet:3417	"" []	575578	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Van den Bosch syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3417	"" []	575579	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Van den Bosch syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:3417	"" []	1158582	\N	\N	EFO	3	EFO	Rare genetic skin disease	Van den Bosch syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3417	"" []	1158583	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Van den Bosch syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3417	"" []	2041836	\N	\N	EFO	4	EFO	genetic disorder	Van den Bosch syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3417	"" []	2041837	\N	\N	EFO	4	EFO	skin disease	Van den Bosch syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3417	"" []	2041838	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Van den Bosch syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3417	"" []	4398663	\N	\N	EFO	6	EFO	disease	Van den Bosch syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3417	"" []	3192126	\N	\N	EFO	5	EFO	disease	Van den Bosch syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3417	"" []	3192127	\N	\N	EFO	5	EFO	genetic disorder	Van den Bosch syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3417	"" []	5182761	\N	\N	EFO	7	EFO	disposition	Van den Bosch syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3417	"" []	5998133	\N	\N	EFO	8	EFO	material property	Van den Bosch syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3417	"" []	6551406	\N	\N	EFO	9	EFO	experimental factor	Van den Bosch syndrome
Orphanet:342	\N	\N	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	76817	\N	\N	EFO	0	EFO	Familial Mediterranean fever	Familial Mediterranean fever
Orphanet:290839	Orphanet:342	\N	"" []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	220020	\N	\N	EFO	1	EFO	Autoinflammatory syndrome with immune deficiency	Familial Mediterranean fever
Orphanet:324924	Orphanet:342	\N	"" []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	220021	\N	\N	EFO	1	EFO	Hereditary periodic fever syndrome	Familial Mediterranean fever
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	575580	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Familial Mediterranean fever
Orphanet:271870	Orphanet:324924	\N	"" []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	575581	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Familial Mediterranean fever
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	1158584	\N	\N	EFO	3	EFO	Primary immunodeficiency	Familial Mediterranean fever
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	1158585	\N	\N	EFO	3	EFO	genetic disorder	Familial Mediterranean fever
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	2041839	\N	\N	EFO	4	EFO	Rare genetic immune disease	Familial Mediterranean fever
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	4398664	\N	\N	EFO	6	EFO	disease	Familial Mediterranean fever
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	3192128	\N	\N	EFO	5	EFO	genetic disorder	Familial Mediterranean fever
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	3192129	\N	\N	EFO	5	EFO	immune system disease	Familial Mediterranean fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	5060023	\N	\N	EFO	7	EFO	disposition	Familial Mediterranean fever
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	4398665	\N	\N	EFO	6	EFO	disease	Familial Mediterranean fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	5877392	\N	\N	EFO	8	EFO	material property	Familial Mediterranean fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:342	"Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." []	6470628	\N	\N	EFO	9	EFO	experimental factor	Familial Mediterranean fever
Orphanet:3421	\N	\N	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	76818	\N	\N	EFO	0	EFO	Cerebroretinal vasculopathy	Cerebroretinal vasculopathy
Orphanet:247691	Orphanet:3421	\N	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	220022	\N	\N	EFO	1	EFO	Retinal vasculopathy and cerebral leukodystrophy	Cerebroretinal vasculopathy
Orphanet:183503	Orphanet:247691	\N	"" []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	575582	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Cerebroretinal vasculopathy
Orphanet:71862	Orphanet:247691	\N	"" []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	575583	\N	\N	EFO	2	EFO	Retinal dystrophy	Cerebroretinal vasculopathy
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	1158586	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cerebroretinal vasculopathy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	1158587	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Cerebroretinal vasculopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	2041841	\N	\N	EFO	4	EFO	genetic disorder	Cerebroretinal vasculopathy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	2041842	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cerebroretinal vasculopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	4398668	\N	\N	EFO	6	EFO	disease	Cerebroretinal vasculopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	3192132	\N	\N	EFO	5	EFO	genetic disorder	Cerebroretinal vasculopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	3192133	\N	\N	EFO	5	EFO	eye disease	Cerebroretinal vasculopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	5182762	\N	\N	EFO	7	EFO	disposition	Cerebroretinal vasculopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	4398669	\N	\N	EFO	6	EFO	disease	Cerebroretinal vasculopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	5998134	\N	\N	EFO	8	EFO	material property	Cerebroretinal vasculopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3421	"Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." []	6551407	\N	\N	EFO	9	EFO	experimental factor	Cerebroretinal vasculopathy
Orphanet:34217	\N	\N	"" []	Orphanet:34217	"" []	76819	\N	\N	EFO	0	EFO	Naxos disease	Naxos disease
Orphanet:247	Orphanet:34217	\N	"Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes." []	Orphanet:34217	"" []	220023	\N	\N	EFO	1	EFO	Arrhythmogenic right ventricular dysplasia	Naxos disease
Orphanet:307804	Orphanet:34217	\N	"" []	Orphanet:34217	"" []	220024	\N	\N	EFO	1	EFO	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Naxos disease
Orphanet:98054	Orphanet:247	\N	"" []	Orphanet:34217	"" []	575584	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Naxos disease
Orphanet:307711	Orphanet:307804	\N	"" []	Orphanet:34217	"" []	575585	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Naxos disease
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34217	"" []	1158588	\N	\N	EFO	3	EFO	genetic disorder	Naxos disease
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:34217	"" []	1158589	\N	\N	EFO	3	EFO	heart disease	Naxos disease
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:34217	"" []	1158590	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Naxos disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34217	"" []	6151612	\N	\N	EFO	8	EFO	disease	Naxos disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:34217	"" []	2041844	\N	\N	EFO	4	EFO	cardiovascular disease	Naxos disease
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:34217	"" []	2041845	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Naxos disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34217	"" []	6378934	\N	\N	EFO	9	EFO	disposition	Naxos disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34217	"" []	3192135	\N	\N	EFO	5	EFO	disease	Naxos disease
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:34217	"" []	3192136	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Naxos disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34217	"" []	6778751	\N	\N	EFO	10	EFO	material property	Naxos disease
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:34217	"" []	4398672	\N	\N	EFO	6	EFO	Rare genetic skin disease	Naxos disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34217	"" []	7029947	\N	\N	EFO	11	EFO	experimental factor	Naxos disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34217	"" []	5415839	\N	\N	EFO	7	EFO	genetic disorder	Naxos disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:34217	"" []	5415840	\N	\N	EFO	7	EFO	skin disease	Naxos disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34217	"" []	6151613	\N	\N	EFO	8	EFO	disease	Naxos disease
Orphanet:3424	\N	\N	"" []	Orphanet:3424	"" []	76820	\N	\N	EFO	0	EFO	Velo-facial-skeletal syndrome	Velo-facial-skeletal syndrome
Orphanet:139039	Orphanet:3424	\N	"" []	Orphanet:3424	"" []	220025	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Velo-facial-skeletal syndrome
Orphanet:330206	Orphanet:3424	\N	"" []	Orphanet:3424	"" []	220026	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Velo-facial-skeletal syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3424	"" []	575586	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Velo-facial-skeletal syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3424	"" []	575587	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Velo-facial-skeletal syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3424	"" []	1158591	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Velo-facial-skeletal syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3424	"" []	1158592	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Velo-facial-skeletal syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3424	"" []	2041846	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Velo-facial-skeletal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3424	"" []	4398673	\N	\N	EFO	6	EFO	genetic disorder	Velo-facial-skeletal syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3424	"" []	3192137	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Velo-facial-skeletal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3424	"" []	5060024	\N	\N	EFO	7	EFO	disease	Velo-facial-skeletal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3424	"" []	5877393	\N	\N	EFO	8	EFO	disposition	Velo-facial-skeletal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3424	"" []	6470629	\N	\N	EFO	9	EFO	material property	Velo-facial-skeletal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3424	"" []	6848632	\N	\N	EFO	10	EFO	experimental factor	Velo-facial-skeletal syndrome
Orphanet:3426	\N	\N	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	Orphanet:3426	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	76821	\N	\N	EFO	0	EFO	Double outlet right ventricle	Double outlet right ventricle
Orphanet:271853	Orphanet:3426	\N	"" []	Orphanet:3426	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	220027	\N	\N	EFO	1	EFO	Genetic cardiac anomaly	Double outlet right ventricle
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:3426	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	575588	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Double outlet right ventricle
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3426	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	1158593	\N	\N	EFO	3	EFO	genetic disorder	Double outlet right ventricle
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3426	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	2041848	\N	\N	EFO	4	EFO	disease	Double outlet right ventricle
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3426	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	3192139	\N	\N	EFO	5	EFO	disposition	Double outlet right ventricle
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3426	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	4398675	\N	\N	EFO	6	EFO	material property	Double outlet right ventricle
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3426	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	5415842	\N	\N	EFO	7	EFO	experimental factor	Double outlet right ventricle
Orphanet:3429	\N	\N	"" []	Orphanet:3429	"" []	76822	\N	\N	EFO	0	EFO	Verloove Vanhorick-Brubakk syndrome	Verloove Vanhorick-Brubakk syndrome
Orphanet:139039	Orphanet:3429	\N	"" []	Orphanet:3429	"" []	220028	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Verloove Vanhorick-Brubakk syndrome
Orphanet:330206	Orphanet:3429	\N	"" []	Orphanet:3429	"" []	220029	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Verloove Vanhorick-Brubakk syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3429	"" []	575589	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Verloove Vanhorick-Brubakk syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3429	"" []	575590	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Verloove Vanhorick-Brubakk syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3429	"" []	1158594	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Verloove Vanhorick-Brubakk syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3429	"" []	1158595	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Verloove Vanhorick-Brubakk syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3429	"" []	2041849	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Verloove Vanhorick-Brubakk syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3429	"" []	4398676	\N	\N	EFO	6	EFO	genetic disorder	Verloove Vanhorick-Brubakk syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3429	"" []	3192140	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Verloove Vanhorick-Brubakk syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3429	"" []	5060025	\N	\N	EFO	7	EFO	disease	Verloove Vanhorick-Brubakk syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3429	"" []	5877394	\N	\N	EFO	8	EFO	disposition	Verloove Vanhorick-Brubakk syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3429	"" []	6470630	\N	\N	EFO	9	EFO	material property	Verloove Vanhorick-Brubakk syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3429	"" []	6848633	\N	\N	EFO	10	EFO	experimental factor	Verloove Vanhorick-Brubakk syndrome
Orphanet:343	\N	\N	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	76823	\N	\N	EFO	0	EFO	Hyperimmunoglobulinemia D with periodic fever	Hyperimmunoglobulinemia D with periodic fever
Orphanet:290839	Orphanet:343	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	220030	\N	\N	EFO	1	EFO	Autoinflammatory syndrome with immune deficiency	Hyperimmunoglobulinemia D with periodic fever
Orphanet:309025	Orphanet:343	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	220031	\N	\N	EFO	1	EFO	Mevalonate kinase deficiency	Hyperimmunoglobulinemia D with periodic fever
Orphanet:324924	Orphanet:343	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	220032	\N	\N	EFO	1	EFO	Hereditary periodic fever syndrome	Hyperimmunoglobulinemia D with periodic fever
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	575591	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Hyperimmunoglobulinemia D with periodic fever
Orphanet:79195	Orphanet:309025	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	575592	\N	\N	EFO	2	EFO	Sterol biosynthesis disorder	Hyperimmunoglobulinemia D with periodic fever
Orphanet:271870	Orphanet:324924	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	575593	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Hyperimmunoglobulinemia D with periodic fever
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	1158596	\N	\N	EFO	3	EFO	Primary immunodeficiency	Hyperimmunoglobulinemia D with periodic fever
Orphanet:139009	Orphanet:79195	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	1158597	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Hyperimmunoglobulinemia D with periodic fever
Orphanet:79226	Orphanet:79195	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	1158598	\N	\N	EFO	3	EFO	Sterol metabolism disorder	Hyperimmunoglobulinemia D with periodic fever
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	1158599	\N	\N	EFO	3	EFO	genetic disorder	Hyperimmunoglobulinemia D with periodic fever
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	2041851	\N	\N	EFO	4	EFO	Rare genetic immune disease	Hyperimmunoglobulinemia D with periodic fever
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	2041852	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hyperimmunoglobulinemia D with periodic fever
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	2041853	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Hyperimmunoglobulinemia D with periodic fever
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	5415844	\N	\N	EFO	7	EFO	disease	Hyperimmunoglobulinemia D with periodic fever
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	3192142	\N	\N	EFO	5	EFO	genetic disorder	Hyperimmunoglobulinemia D with periodic fever
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	3192143	\N	\N	EFO	5	EFO	immune system disease	Hyperimmunoglobulinemia D with periodic fever
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	3192144	\N	\N	EFO	5	EFO	genetic disorder	Hyperimmunoglobulinemia D with periodic fever
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	3192145	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Hyperimmunoglobulinemia D with periodic fever
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	5817714	\N	\N	EFO	8	EFO	disposition	Hyperimmunoglobulinemia D with periodic fever
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	4398679	\N	\N	EFO	6	EFO	disease	Hyperimmunoglobulinemia D with periodic fever
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	4398680	\N	\N	EFO	6	EFO	genetic disorder	Hyperimmunoglobulinemia D with periodic fever
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	4398681	\N	\N	EFO	6	EFO	metabolic disease	Hyperimmunoglobulinemia D with periodic fever
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	6410162	\N	\N	EFO	9	EFO	material property	Hyperimmunoglobulinemia D with periodic fever
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	5415845	\N	\N	EFO	7	EFO	disease	Hyperimmunoglobulinemia D with periodic fever
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:343	"Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." []	6807997	\N	\N	EFO	10	EFO	experimental factor	Hyperimmunoglobulinemia D with periodic fever
Orphanet:3433	\N	\N	"" []	Orphanet:3433	"" []	76824	\N	\N	EFO	0	EFO	Microcephaly - brachydactyly - kyphoscoliosis	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:102283	Orphanet:3433	\N	"" []	Orphanet:3433	"" []	220033	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:183763	Orphanet:3433	\N	"" []	Orphanet:3433	"" []	220034	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:69028	Orphanet:3433	\N	"" []	Orphanet:3433	"" []	220035	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3433	"" []	575594	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3433	"" []	575595	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:3433	"" []	575596	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:3433	"" []	575597	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3433	"" []	1158600	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3433	"" []	1158601	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3433	"" []	1158602	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3433	"" []	1158603	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Microcephaly - brachydactyly - kyphoscoliosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3433	"" []	4398685	\N	\N	EFO	6	EFO	genetic disorder	Microcephaly - brachydactyly - kyphoscoliosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3433	"" []	2041856	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3433	"" []	2041857	\N	\N	EFO	4	EFO	Rare genetic bone disease	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3433	"" []	2041858	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3433	"" []	2041859	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - brachydactyly - kyphoscoliosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3433	"" []	5060027	\N	\N	EFO	7	EFO	disease	Microcephaly - brachydactyly - kyphoscoliosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3433	"" []	3192148	\N	\N	EFO	5	EFO	genetic disorder	Microcephaly - brachydactyly - kyphoscoliosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3433	"" []	3192149	\N	\N	EFO	5	EFO	bone disease	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3433	"" []	3192150	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly - brachydactyly - kyphoscoliosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3433	"" []	5877396	\N	\N	EFO	8	EFO	disposition	Microcephaly - brachydactyly - kyphoscoliosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3433	"" []	4398684	\N	\N	EFO	6	EFO	skeletal system disease	Microcephaly - brachydactyly - kyphoscoliosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3433	"" []	6470632	\N	\N	EFO	9	EFO	material property	Microcephaly - brachydactyly - kyphoscoliosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3433	"" []	5415848	\N	\N	EFO	7	EFO	disease	Microcephaly - brachydactyly - kyphoscoliosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3433	"" []	6848634	\N	\N	EFO	10	EFO	experimental factor	Microcephaly - brachydactyly - kyphoscoliosis
Orphanet:3434	\N	\N	"" []	Orphanet:3434	"" []	76825	\N	\N	EFO	0	EFO	MMEP syndrome	MMEP syndrome
Orphanet:102283	Orphanet:3434	\N	"" []	Orphanet:3434	"" []	220036	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	MMEP syndrome
Orphanet:183763	Orphanet:3434	\N	"" []	Orphanet:3434	"" []	220037	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	MMEP syndrome
Orphanet:202948	Orphanet:3434	\N	"" []	Orphanet:3434	"" []	220038	\N	\N	EFO	1	EFO	Syndromic microphthalmia	MMEP syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3434	"" []	575598	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	MMEP syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3434	"" []	575599	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	MMEP syndrome
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:3434	"" []	575600	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	MMEP syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3434	"" []	1158604	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	MMEP syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3434	"" []	1158605	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	MMEP syndrome
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:3434	"" []	1158606	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	MMEP syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3434	"" []	4398689	\N	\N	EFO	6	EFO	genetic disorder	MMEP syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3434	"" []	2041861	\N	\N	EFO	4	EFO	genetic disorder	MMEP syndrome
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:3434	"" []	2041862	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	MMEP syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3434	"" []	5060028	\N	\N	EFO	7	EFO	disease	MMEP syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:3434	"" []	3192153	\N	\N	EFO	5	EFO	Rare genetic eye disease	MMEP syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:3434	"" []	3192154	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	MMEP syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3434	"" []	5877397	\N	\N	EFO	8	EFO	disposition	MMEP syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3434	"" []	4398687	\N	\N	EFO	6	EFO	genetic disorder	MMEP syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3434	"" []	4398688	\N	\N	EFO	6	EFO	eye disease	MMEP syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3434	"" []	6470633	\N	\N	EFO	9	EFO	material property	MMEP syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3434	"" []	5415850	\N	\N	EFO	7	EFO	disease	MMEP syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3434	"" []	6848635	\N	\N	EFO	10	EFO	experimental factor	MMEP syndrome
Orphanet:3437	\N	\N	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	76826	\N	\N	EFO	0	EFO	Vogt-Koyanagi-Harada disease	Vogt-Koyanagi-Harada disease
EFO:0005809	Orphanet:3437	\N	"Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease." []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	220039	\N	\N	EFO	1	EFO	type II hypersensitivity reaction disease	Vogt-Koyanagi-Harada disease
Orphanet:98601	Orphanet:3437	\N	"" []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	220040	\N	\N	EFO	1	EFO	Eyebrow/eyelashes pigmentation anomaly	Vogt-Koyanagi-Harada disease
EFO:1002003	EFO:0005809	\N	"An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods." []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	575601	\N	\N	EFO	2	EFO	hypersensitivity reaction disease	Vogt-Koyanagi-Harada disease
Orphanet:98594	Orphanet:98601	\N	"" []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	575602	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Vogt-Koyanagi-Harada disease
EFO:0000540	EFO:1002003	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	1158607	\N	\N	EFO	3	EFO	immune system disease	Vogt-Koyanagi-Harada disease
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	1158608	\N	\N	EFO	3	EFO	Rare palpebral disease	Vogt-Koyanagi-Harada disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	2041863	\N	\N	EFO	4	EFO	disease	Vogt-Koyanagi-Harada disease
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	2041864	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Vogt-Koyanagi-Harada disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	6151618	\N	\N	EFO	8	EFO	disposition	Vogt-Koyanagi-Harada disease
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	3192156	\N	\N	EFO	5	EFO	Rare genetic eye disease	Vogt-Koyanagi-Harada disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	6410163	\N	\N	EFO	9	EFO	material property	Vogt-Koyanagi-Harada disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	4398691	\N	\N	EFO	6	EFO	genetic disorder	Vogt-Koyanagi-Harada disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	4398692	\N	\N	EFO	6	EFO	eye disease	Vogt-Koyanagi-Harada disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	6807998	\N	\N	EFO	10	EFO	experimental factor	Vogt-Koyanagi-Harada disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	5415852	\N	\N	EFO	7	EFO	disease	Vogt-Koyanagi-Harada disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3437	"A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." []	5415853	\N	\N	EFO	7	EFO	disease	Vogt-Koyanagi-Harada disease
Orphanet:3439	\N	\N	"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." []	Orphanet:3439	"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." []	76827	\N	\N	EFO	0	EFO	Von Voss-Cherstvoy syndrome	Von Voss-Cherstvoy syndrome
Orphanet:330206	Orphanet:3439	\N	"" []	Orphanet:3439	"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." []	220041	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Von Voss-Cherstvoy syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3439	"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." []	575603	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Von Voss-Cherstvoy syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3439	"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." []	1158609	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Von Voss-Cherstvoy syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3439	"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." []	2041865	\N	\N	EFO	4	EFO	genetic disorder	Von Voss-Cherstvoy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3439	"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." []	3192157	\N	\N	EFO	5	EFO	disease	Von Voss-Cherstvoy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3439	"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." []	4398693	\N	\N	EFO	6	EFO	disposition	Von Voss-Cherstvoy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3439	"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." []	5415854	\N	\N	EFO	7	EFO	material property	Von Voss-Cherstvoy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3439	"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." []	6151619	\N	\N	EFO	8	EFO	experimental factor	Von Voss-Cherstvoy syndrome
Orphanet:3440	\N	\N	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	76828	\N	\N	EFO	0	EFO	Waardenburg syndrome	Waardenburg syndrome
Orphanet:108987	Orphanet:3440	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	220042	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Waardenburg syndrome
Orphanet:138063	Orphanet:3440	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	220043	\N	\N	EFO	1	EFO	Syndrome associated with Pierre Robin syndrome	Waardenburg syndrome
Orphanet:139027	Orphanet:3440	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	220044	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Waardenburg syndrome
Orphanet:183469	Orphanet:3440	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	220045	\N	\N	EFO	1	EFO	Genetic hypopigmentation of the skin	Waardenburg syndrome
Orphanet:330206	Orphanet:3440	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	220046	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Waardenburg syndrome
Orphanet:90642	Orphanet:3440	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	220047	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Waardenburg syndrome
Orphanet:98601	Orphanet:3440	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	220048	\N	\N	EFO	1	EFO	Eyebrow/eyelashes pigmentation anomaly	Waardenburg syndrome
Orphanet:98683	Orphanet:3440	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	220049	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Waardenburg syndrome
Orphanet:98708	Orphanet:3440	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	220050	\N	\N	EFO	1	EFO	Pigmentation disorder with eye involvement, excluding albinism	Waardenburg syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	575604	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Waardenburg syndrome
Orphanet:363294	Orphanet:138063	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	575605	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Waardenburg syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	575606	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	575607	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Waardenburg syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	575608	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Waardenburg syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	575609	\N	\N	EFO	2	EFO	Rare genetic deafness	Waardenburg syndrome
Orphanet:98594	Orphanet:98601	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	575610	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Waardenburg syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	575611	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Waardenburg syndrome
Orphanet:98700	Orphanet:98708	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	575612	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement	Waardenburg syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	1158610	\N	\N	EFO	3	EFO	Rare genetic eye disease	Waardenburg syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	1158611	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	1158612	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Waardenburg syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	5415855	\N	\N	EFO	7	EFO	genetic disorder	Waardenburg syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	1158614	\N	\N	EFO	3	EFO	Rare genetic skin disease	Waardenburg syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	1158615	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	1158616	\N	\N	EFO	3	EFO	genetic disorder	Waardenburg syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	1158617	\N	\N	EFO	3	EFO	auditory system disease	Waardenburg syndrome
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	1158618	\N	\N	EFO	3	EFO	Rare palpebral disease	Waardenburg syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	1158619	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Waardenburg syndrome
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	1158620	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Waardenburg syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	4398697	\N	\N	EFO	6	EFO	genetic disorder	Waardenburg syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	4398698	\N	\N	EFO	6	EFO	eye disease	Waardenburg syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	2041869	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Waardenburg syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	5801863	\N	\N	EFO	8	EFO	disease	Waardenburg syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	2041871	\N	\N	EFO	4	EFO	genetic disorder	Waardenburg syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	2041872	\N	\N	EFO	4	EFO	skin disease	Waardenburg syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	2041873	\N	\N	EFO	4	EFO	sensory system disease	Waardenburg syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	2041874	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Waardenburg syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	2041875	\N	\N	EFO	4	EFO	Rare genetic eye disease	Waardenburg syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	2041876	\N	\N	EFO	4	EFO	Rare genetic eye disease	Waardenburg syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	5060030	\N	\N	EFO	7	EFO	disease	Waardenburg syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	3192159	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Waardenburg syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	6378935	\N	\N	EFO	9	EFO	disposition	Waardenburg syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	3192161	\N	\N	EFO	5	EFO	disease	Waardenburg syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	3192162	\N	\N	EFO	5	EFO	nervous system disease	Waardenburg syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	3192163	\N	\N	EFO	5	EFO	Rare genetic eye disease	Waardenburg syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	4398694	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	6778752	\N	\N	EFO	10	EFO	material property	Waardenburg syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	4398696	\N	\N	EFO	6	EFO	disease	Waardenburg syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3440	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	7029948	\N	\N	EFO	11	EFO	experimental factor	Waardenburg syndrome
Orphanet:3447	\N	\N	"" []	Orphanet:3447	"" []	76829	\N	\N	EFO	0	EFO	Weaver syndrome	Weaver syndrome
Orphanet:102283	Orphanet:3447	\N	"" []	Orphanet:3447	"" []	220051	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Weaver syndrome
Orphanet:183763	Orphanet:3447	\N	"" []	Orphanet:3447	"" []	220052	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Weaver syndrome
Orphanet:93460	Orphanet:3447	\N	"" []	Orphanet:3447	"" []	220053	\N	\N	EFO	1	EFO	Overgrowth syndrome	Weaver syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3447	"" []	575613	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Weaver syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3447	"" []	575614	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Weaver syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:3447	"" []	575615	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Weaver syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3447	"" []	1158621	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Weaver syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3447	"" []	1158622	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Weaver syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:3447	"" []	1158623	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Weaver syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3447	"" []	2041877	\N	\N	EFO	4	EFO	genetic disorder	Weaver syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3447	"" []	2041878	\N	\N	EFO	4	EFO	genetic disorder	Weaver syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3447	"" []	3192166	\N	\N	EFO	5	EFO	disease	Weaver syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3447	"" []	4398699	\N	\N	EFO	6	EFO	disposition	Weaver syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3447	"" []	5415857	\N	\N	EFO	7	EFO	material property	Weaver syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3447	"" []	6151620	\N	\N	EFO	8	EFO	experimental factor	Weaver syndrome
Orphanet:3448	\N	\N	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	76830	\N	\N	EFO	0	EFO	Weaver-Williams syndrome	Weaver-Williams syndrome
Orphanet:102283	Orphanet:3448	\N	"" []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	220054	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Weaver-Williams syndrome
Orphanet:139039	Orphanet:3448	\N	"" []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	220055	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Weaver-Williams syndrome
Orphanet:183763	Orphanet:3448	\N	"" []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	220056	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Weaver-Williams syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	575616	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Weaver-Williams syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	575617	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Weaver-Williams syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	575618	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Weaver-Williams syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	1158624	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Weaver-Williams syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	1158625	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Weaver-Williams syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	1158626	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Weaver-Williams syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	4398701	\N	\N	EFO	6	EFO	genetic disorder	Weaver-Williams syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	2041880	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Weaver-Williams syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	2041881	\N	\N	EFO	4	EFO	genetic disorder	Weaver-Williams syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	5060032	\N	\N	EFO	7	EFO	disease	Weaver-Williams syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	3192168	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Weaver-Williams syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	5877399	\N	\N	EFO	8	EFO	disposition	Weaver-Williams syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	6470635	\N	\N	EFO	9	EFO	material property	Weaver-Williams syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3448	"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." []	6848636	\N	\N	EFO	10	EFO	experimental factor	Weaver-Williams syndrome
Orphanet:3449	\N	\N	"" []	Orphanet:3449	"" []	76831	\N	\N	EFO	0	EFO	Weill-Marchesani syndrome	Weill-Marchesani syndrome
Orphanet:108987	Orphanet:3449	\N	"" []	Orphanet:3449	"" []	220057	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Weill-Marchesani syndrome
Orphanet:330206	Orphanet:3449	\N	"" []	Orphanet:3449	"" []	220058	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Weill-Marchesani syndrome
Orphanet:69028	Orphanet:3449	\N	"" []	Orphanet:3449	"" []	220059	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Weill-Marchesani syndrome
Orphanet:98638	Orphanet:3449	\N	"" []	Orphanet:3449	"" []	220060	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Weill-Marchesani syndrome
Orphanet:98652	Orphanet:3449	\N	"" []	Orphanet:3449	"" []	220061	\N	\N	EFO	1	EFO	Lens size anomaly	Weill-Marchesani syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:3449	"" []	575619	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Weill-Marchesani syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3449	"" []	575620	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Weill-Marchesani syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:3449	"" []	575621	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Weill-Marchesani syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:3449	"" []	575622	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Weill-Marchesani syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:3449	"" []	575623	\N	\N	EFO	2	EFO	Rare genetic eye disease	Weill-Marchesani syndrome
Orphanet:183607	Orphanet:98652	\N	"" []	Orphanet:3449	"" []	575624	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Weill-Marchesani syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:3449	"" []	1158627	\N	\N	EFO	3	EFO	Rare genetic eye disease	Weill-Marchesani syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:3449	"" []	1158628	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Weill-Marchesani syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3449	"" []	1158629	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Weill-Marchesani syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:3449	"" []	1158630	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Weill-Marchesani syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3449	"" []	1158631	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Weill-Marchesani syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3449	"" []	2041882	\N	\N	EFO	4	EFO	genetic disorder	Weill-Marchesani syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3449	"" []	2041883	\N	\N	EFO	4	EFO	eye disease	Weill-Marchesani syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:3449	"" []	1158634	\N	\N	EFO	3	EFO	Rare genetic eye disease	Weill-Marchesani syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3449	"" []	4398703	\N	\N	EFO	6	EFO	genetic disorder	Weill-Marchesani syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3449	"" []	2041885	\N	\N	EFO	4	EFO	Rare genetic bone disease	Weill-Marchesani syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3449	"" []	2041886	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Weill-Marchesani syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3449	"" []	2041887	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Weill-Marchesani syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3449	"" []	5060033	\N	\N	EFO	7	EFO	disease	Weill-Marchesani syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3449	"" []	3000326	\N	\N	EFO	5	EFO	disease	Weill-Marchesani syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3449	"" []	3192169	\N	\N	EFO	5	EFO	genetic disorder	Weill-Marchesani syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3449	"" []	3192170	\N	\N	EFO	5	EFO	bone disease	Weill-Marchesani syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3449	"" []	3192171	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Weill-Marchesani syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3449	"" []	5817716	\N	\N	EFO	8	EFO	disposition	Weill-Marchesani syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3449	"" []	4398702	\N	\N	EFO	6	EFO	skeletal system disease	Weill-Marchesani syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3449	"" []	6410165	\N	\N	EFO	9	EFO	material property	Weill-Marchesani syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3449	"" []	5415859	\N	\N	EFO	7	EFO	disease	Weill-Marchesani syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3449	"" []	6808000	\N	\N	EFO	10	EFO	experimental factor	Weill-Marchesani syndrome
Orphanet:3450	\N	\N	"" []	Orphanet:3450	"" []	76832	\N	\N	EFO	0	EFO	Weissenbacher- Zweymuller syndrome	Weissenbacher- Zweymuller syndrome
Orphanet:139039	Orphanet:3450	\N	"" []	Orphanet:3450	"" []	220062	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Weissenbacher- Zweymuller syndrome
Orphanet:253	Orphanet:3450	\N	"" []	Orphanet:3450	"" []	220063	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Weissenbacher- Zweymuller syndrome
Orphanet:330206	Orphanet:3450	\N	"" []	Orphanet:3450	"" []	220064	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Weissenbacher- Zweymuller syndrome
Orphanet:93422	Orphanet:3450	\N	"" []	Orphanet:3450	"" []	220065	\N	\N	EFO	1	EFO	Type 11 collagen-related bone disorder	Weissenbacher- Zweymuller syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:3450	"" []	575625	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Weissenbacher- Zweymuller syndrome
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:3450	"" []	575626	\N	\N	EFO	2	EFO	Primary bone dysplasia	Weissenbacher- Zweymuller syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:3450	"" []	575627	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Weissenbacher- Zweymuller syndrome
Orphanet:364803	Orphanet:93422	\N	"" []	Orphanet:3450	"" []	575628	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Weissenbacher- Zweymuller syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:3450	"" []	1158635	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Weissenbacher- Zweymuller syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3450	"" []	1158636	\N	\N	EFO	3	EFO	Rare genetic bone disease	Weissenbacher- Zweymuller syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3450	"" []	1158637	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Weissenbacher- Zweymuller syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3450	"" []	1158638	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Weissenbacher- Zweymuller syndrome
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:3450	"" []	1158639	\N	\N	EFO	3	EFO	Rare genetic bone disease	Weissenbacher- Zweymuller syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:3450	"" []	2041890	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Weissenbacher- Zweymuller syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3450	"" []	2041891	\N	\N	EFO	4	EFO	genetic disorder	Weissenbacher- Zweymuller syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3450	"" []	2041892	\N	\N	EFO	4	EFO	bone disease	Weissenbacher- Zweymuller syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3450	"" []	2041893	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Weissenbacher- Zweymuller syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3450	"" []	4398705	\N	\N	EFO	6	EFO	genetic disorder	Weissenbacher- Zweymuller syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:3450	"" []	3192174	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Weissenbacher- Zweymuller syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3450	"" []	5060035	\N	\N	EFO	7	EFO	disease	Weissenbacher- Zweymuller syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3450	"" []	3192176	\N	\N	EFO	5	EFO	skeletal system disease	Weissenbacher- Zweymuller syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3450	"" []	5877401	\N	\N	EFO	8	EFO	disposition	Weissenbacher- Zweymuller syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3450	"" []	4398707	\N	\N	EFO	6	EFO	disease	Weissenbacher- Zweymuller syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3450	"" []	6470637	\N	\N	EFO	9	EFO	material property	Weissenbacher- Zweymuller syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3450	"" []	6848637	\N	\N	EFO	10	EFO	experimental factor	Weissenbacher- Zweymuller syndrome
Orphanet:3451	\N	\N	"" []	Orphanet:3451	"" []	76833	\N	\N	EFO	0	EFO	West syndrome	West syndrome
Orphanet:182079	Orphanet:3451	\N	"" []	Orphanet:3451	"" []	220066	\N	\N	EFO	1	EFO	ARX-related epileptic encephalopathy	West syndrome
Orphanet:183763	Orphanet:3451	\N	"" []	Orphanet:3451	"" []	220067	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	West syndrome
Orphanet:98258	Orphanet:3451	\N	"" []	Orphanet:3451	"" []	220068	\N	\N	EFO	1	EFO	Infantile epilepsy syndrome	West syndrome
Orphanet:166472	Orphanet:182079	\N	"" []	Orphanet:3451	"" []	575629	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	West syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3451	"" []	575630	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	West syndrome
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:3451	"" []	575631	\N	\N	EFO	2	EFO	Epilepsy syndrome	West syndrome
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:3451	"" []	1158640	\N	\N	EFO	3	EFO	Rare genetic epilepsy	West syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3451	"" []	1158641	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	West syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:3451	"" []	1158642	\N	\N	EFO	3	EFO	Rare genetic epilepsy	West syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:3451	"" []	2041895	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	West syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3451	"" []	3192178	\N	\N	EFO	5	EFO	genetic disorder	West syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3451	"" []	4133947	\N	\N	EFO	6	EFO	disease	West syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3451	"" []	5182768	\N	\N	EFO	7	EFO	disposition	West syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3451	"" []	5998140	\N	\N	EFO	8	EFO	material property	West syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3451	"" []	6551410	\N	\N	EFO	9	EFO	experimental factor	West syndrome
Orphanet:34514	\N	\N	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	76834	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2G	Autosomal recessive limb-girdle muscular dystrophy type 2G
Orphanet:102015	Orphanet:34514	\N	"" []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	220069	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2G
Orphanet:209056	Orphanet:34514	\N	"" []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	220070	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of telethonin	Autosomal recessive limb-girdle muscular dystrophy type 2G
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	575632	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2G
Orphanet:207049	Orphanet:209056	\N	"" []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	575633	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2G
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	1158643	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2G
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	1158644	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2G
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	2041897	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2G
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	5415863	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2G
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	5415864	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2G
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	3192180	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2G
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	5817717	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2G
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	5817718	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2G
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	4398709	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2G
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	6410166	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2G
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	6410167	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2G
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	6808001	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2G
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	7048714	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2G
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34514	"Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." []	7190239	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2G
Orphanet:34515	\N	\N	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	76835	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2I	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:102015	Orphanet:34515	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	220071	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:207119	Orphanet:34515	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	220072	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of FKRP	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:309469	Orphanet:34515	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	220073	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:371047	Orphanet:34515	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	220074	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	575634	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:207113	Orphanet:207119	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	575635	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	575636	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	575637	\N	\N	EFO	2	EFO	Neurometabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	1158645	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	1158646	\N	\N	EFO	3	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	1158647	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	1158648	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	2041900	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	2041901	\N	\N	EFO	4	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	2041902	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive limb-girdle muscular dystrophy type 2I
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	5998142	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	3192183	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	3192184	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2I
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	3192185	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2I
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	3192186	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	6378936	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	4398712	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2I
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	5415866	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	5415867	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2I
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	4398716	\N	\N	EFO	6	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	6778753	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2I
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	5998141	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	7029949	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2I
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	6551411	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34515	"Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." []	7181800	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2I
Orphanet:34516	\N	\N	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	76836	\N	\N	EFO	0	EFO	Autosomal dominant limb-girdle muscular dystrophy type 1D	Autosomal dominant limb-girdle muscular dystrophy type 1D
Orphanet:102014	Orphanet:34516	\N	"" []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	220075	\N	\N	EFO	1	EFO	Autosomal dominant limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1D
Orphanet:263	Orphanet:102014	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	575638	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1D
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	1158649	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1D
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	2041904	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1D
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	3192188	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal dominant limb-girdle muscular dystrophy type 1D
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	4398718	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1D
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	5415871	\N	\N	EFO	7	EFO	muscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1D
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	5415872	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal dominant limb-girdle muscular dystrophy type 1D
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	6151627	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal dominant limb-girdle muscular dystrophy type 1D
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	6151628	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant limb-girdle muscular dystrophy type 1D
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	6633732	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1D
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	6633733	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1D
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	6926110	\N	\N	EFO	10	EFO	disposition	Autosomal dominant limb-girdle muscular dystrophy type 1D
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	7099278	\N	\N	EFO	11	EFO	material property	Autosomal dominant limb-girdle muscular dystrophy type 1D
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34516	"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." []	7208349	\N	\N	EFO	12	EFO	experimental factor	Autosomal dominant limb-girdle muscular dystrophy type 1D
Orphanet:34517	\N	\N	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	76837	\N	\N	EFO	0	EFO	Autosomal dominant limb-girdle muscular dystrophy type 1E	Autosomal dominant limb-girdle muscular dystrophy type 1E
Orphanet:102014	Orphanet:34517	\N	"" []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	220076	\N	\N	EFO	1	EFO	Autosomal dominant limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1E
Orphanet:263	Orphanet:102014	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	575639	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1E
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	1158650	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1E
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	2041905	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1E
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	3192189	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal dominant limb-girdle muscular dystrophy type 1E
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	4398719	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1E
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	5415873	\N	\N	EFO	7	EFO	muscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1E
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	5415874	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal dominant limb-girdle muscular dystrophy type 1E
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	6151629	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal dominant limb-girdle muscular dystrophy type 1E
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	6151630	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant limb-girdle muscular dystrophy type 1E
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	6633734	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1E
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	6633735	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	6926111	\N	\N	EFO	10	EFO	disposition	Autosomal dominant limb-girdle muscular dystrophy type 1E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	7099279	\N	\N	EFO	11	EFO	material property	Autosomal dominant limb-girdle muscular dystrophy type 1E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34517	"Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." []	7208350	\N	\N	EFO	12	EFO	experimental factor	Autosomal dominant limb-girdle muscular dystrophy type 1E
Orphanet:34520	\N	\N	"" []	Orphanet:34520	"" []	76838	\N	\N	EFO	0	EFO	Congenital muscular dystrophy with integrin alpha-7 deficiency	Congenital muscular dystrophy with integrin alpha-7 deficiency
Orphanet:207098	Orphanet:34520	\N	"" []	Orphanet:34520	"" []	220077	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of integrin alpha-7	Congenital muscular dystrophy with integrin alpha-7 deficiency
Orphanet:97242	Orphanet:34520	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:34520	"" []	220078	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy with integrin alpha-7 deficiency
Orphanet:207049	Orphanet:207098	\N	"" []	Orphanet:34520	"" []	575640	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Congenital muscular dystrophy with integrin alpha-7 deficiency
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:34520	"" []	575641	\N	\N	EFO	2	EFO	Muscular dystrophy	Congenital muscular dystrophy with integrin alpha-7 deficiency
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:34520	"" []	1158651	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy with integrin alpha-7 deficiency
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:34520	"" []	1158652	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy with integrin alpha-7 deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:34520	"" []	3192192	\N	\N	EFO	5	EFO	muscular disease	Congenital muscular dystrophy with integrin alpha-7 deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:34520	"" []	3192193	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy with integrin alpha-7 deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:34520	"" []	2041908	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy with integrin alpha-7 deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:34520	"" []	4133948	\N	\N	EFO	6	EFO	skeletal system disease	Congenital muscular dystrophy with integrin alpha-7 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34520	"" []	4133949	\N	\N	EFO	6	EFO	genetic disorder	Congenital muscular dystrophy with integrin alpha-7 deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34520	"" []	5182770	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy with integrin alpha-7 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34520	"" []	5182771	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy with integrin alpha-7 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34520	"" []	5998144	\N	\N	EFO	8	EFO	disposition	Congenital muscular dystrophy with integrin alpha-7 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34520	"" []	6551413	\N	\N	EFO	9	EFO	material property	Congenital muscular dystrophy with integrin alpha-7 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34520	"" []	6889426	\N	\N	EFO	10	EFO	experimental factor	Congenital muscular dystrophy with integrin alpha-7 deficiency
Orphanet:34521	\N	\N	"" []	Orphanet:34521	"" []	76839	\N	\N	EFO	0	EFO	Distal myopathy with early respiratory muscle involvement	Distal myopathy with early respiratory muscle involvement
Orphanet:206650	Orphanet:34521	\N	"" []	Orphanet:34521	"" []	220079	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Distal myopathy with early respiratory muscle involvement
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:34521	"" []	575642	\N	\N	EFO	2	EFO	Distal myopathy	Distal myopathy with early respiratory muscle involvement
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:34521	"" []	1158653	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Distal myopathy with early respiratory muscle involvement
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:34521	"" []	2041909	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal myopathy with early respiratory muscle involvement
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:34521	"" []	3192194	\N	\N	EFO	5	EFO	muscular disease	Distal myopathy with early respiratory muscle involvement
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:34521	"" []	3192195	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal myopathy with early respiratory muscle involvement
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:34521	"" []	4398722	\N	\N	EFO	6	EFO	skeletal system disease	Distal myopathy with early respiratory muscle involvement
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34521	"" []	4398723	\N	\N	EFO	6	EFO	genetic disorder	Distal myopathy with early respiratory muscle involvement
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34521	"" []	5415876	\N	\N	EFO	7	EFO	disease	Distal myopathy with early respiratory muscle involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34521	"" []	5415877	\N	\N	EFO	7	EFO	disease	Distal myopathy with early respiratory muscle involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34521	"" []	6151632	\N	\N	EFO	8	EFO	disposition	Distal myopathy with early respiratory muscle involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34521	"" []	6633737	\N	\N	EFO	9	EFO	material property	Distal myopathy with early respiratory muscle involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34521	"" []	6926112	\N	\N	EFO	10	EFO	experimental factor	Distal myopathy with early respiratory muscle involvement
Orphanet:34526	\N	\N	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	76840	\N	\N	EFO	0	EFO	Familial primary hypomagnesemia	Familial primary hypomagnesemia
Orphanet:183592	Orphanet:34526	\N	"" []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	220080	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Familial primary hypomagnesemia
Orphanet:309848	Orphanet:34526	\N	"" []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	220081	\N	\N	EFO	1	EFO	Disorder of magnesium transport	Familial primary hypomagnesemia
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	575643	\N	\N	EFO	2	EFO	Rare genetic renal disease	Familial primary hypomagnesemia
Orphanet:309836	Orphanet:309848	\N	"" []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	575644	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Familial primary hypomagnesemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	1158654	\N	\N	EFO	3	EFO	genetic disorder	Familial primary hypomagnesemia
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	1158655	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Familial primary hypomagnesemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	4398725	\N	\N	EFO	6	EFO	disease	Familial primary hypomagnesemia
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	2041911	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Familial primary hypomagnesemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	5060036	\N	\N	EFO	7	EFO	disposition	Familial primary hypomagnesemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	3192197	\N	\N	EFO	5	EFO	genetic disorder	Familial primary hypomagnesemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	3192198	\N	\N	EFO	5	EFO	metabolic disease	Familial primary hypomagnesemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	5877402	\N	\N	EFO	8	EFO	material property	Familial primary hypomagnesemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	4398726	\N	\N	EFO	6	EFO	disease	Familial primary hypomagnesemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34526	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	6470638	\N	\N	EFO	9	EFO	experimental factor	Familial primary hypomagnesemia
Orphanet:34527	\N	\N	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	76841	\N	\N	EFO	0	EFO	Familial primary hypomagnesemia with normocalciuria and normocalcemia	Familial primary hypomagnesemia with normocalciuria and normocalcemia
Orphanet:306522	Orphanet:34527	\N	"Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	220082	\N	\N	EFO	1	EFO	Familial primary hypomagnesemia with normocalcuria	Familial primary hypomagnesemia with normocalciuria and normocalcemia
Orphanet:34526	Orphanet:306522	\N	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	575645	\N	\N	EFO	2	EFO	Familial primary hypomagnesemia	Familial primary hypomagnesemia with normocalciuria and normocalcemia
Orphanet:183592	Orphanet:34526	\N	"" []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	1158656	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Familial primary hypomagnesemia with normocalciuria and normocalcemia
Orphanet:309848	Orphanet:34526	\N	"" []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	1158657	\N	\N	EFO	3	EFO	Disorder of magnesium transport	Familial primary hypomagnesemia with normocalciuria and normocalcemia
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	2041912	\N	\N	EFO	4	EFO	Rare genetic renal disease	Familial primary hypomagnesemia with normocalciuria and normocalcemia
Orphanet:309836	Orphanet:309848	\N	"" []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	2041913	\N	\N	EFO	4	EFO	Disorder of mineral absorption and transport	Familial primary hypomagnesemia with normocalciuria and normocalcemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	3192199	\N	\N	EFO	5	EFO	genetic disorder	Familial primary hypomagnesemia with normocalciuria and normocalcemia
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	3192200	\N	\N	EFO	5	EFO	Disorder of metabolite absorption and transport	Familial primary hypomagnesemia with normocalciuria and normocalcemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	6151634	\N	\N	EFO	8	EFO	disease	Familial primary hypomagnesemia with normocalciuria and normocalcemia
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	4398728	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Familial primary hypomagnesemia with normocalciuria and normocalcemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	6470639	\N	\N	EFO	9	EFO	disposition	Familial primary hypomagnesemia with normocalciuria and normocalcemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	5415880	\N	\N	EFO	7	EFO	genetic disorder	Familial primary hypomagnesemia with normocalciuria and normocalcemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	5415881	\N	\N	EFO	7	EFO	metabolic disease	Familial primary hypomagnesemia with normocalciuria and normocalcemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	6848638	\N	\N	EFO	10	EFO	material property	Familial primary hypomagnesemia with normocalciuria and normocalcemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	6151635	\N	\N	EFO	8	EFO	disease	Familial primary hypomagnesemia with normocalciuria and normocalcemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34527	"Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." []	7068492	\N	\N	EFO	11	EFO	experimental factor	Familial primary hypomagnesemia with normocalciuria and normocalcemia
Orphanet:34528	\N	\N	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	76842	\N	\N	EFO	0	EFO	Autosomal dominant primary hypomagnesemia with hypocalciuria	Autosomal dominant primary hypomagnesemia with hypocalciuria
Orphanet:306519	Orphanet:34528	\N	"" []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	220083	\N	\N	EFO	1	EFO	Familial primary hypomagnesemia with hypocalcuria	Autosomal dominant primary hypomagnesemia with hypocalciuria
Orphanet:34526	Orphanet:306519	\N	"Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood." []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	575646	\N	\N	EFO	2	EFO	Familial primary hypomagnesemia	Autosomal dominant primary hypomagnesemia with hypocalciuria
Orphanet:183592	Orphanet:34526	\N	"" []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	1158658	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Autosomal dominant primary hypomagnesemia with hypocalciuria
Orphanet:309848	Orphanet:34526	\N	"" []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	1158659	\N	\N	EFO	3	EFO	Disorder of magnesium transport	Autosomal dominant primary hypomagnesemia with hypocalciuria
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	2041914	\N	\N	EFO	4	EFO	Rare genetic renal disease	Autosomal dominant primary hypomagnesemia with hypocalciuria
Orphanet:309836	Orphanet:309848	\N	"" []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	2041915	\N	\N	EFO	4	EFO	Disorder of mineral absorption and transport	Autosomal dominant primary hypomagnesemia with hypocalciuria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	3192201	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant primary hypomagnesemia with hypocalciuria
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	3192202	\N	\N	EFO	5	EFO	Disorder of metabolite absorption and transport	Autosomal dominant primary hypomagnesemia with hypocalciuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	6151637	\N	\N	EFO	8	EFO	disease	Autosomal dominant primary hypomagnesemia with hypocalciuria
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	4398730	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Autosomal dominant primary hypomagnesemia with hypocalciuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	6470640	\N	\N	EFO	9	EFO	disposition	Autosomal dominant primary hypomagnesemia with hypocalciuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	5415883	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant primary hypomagnesemia with hypocalciuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	5415884	\N	\N	EFO	7	EFO	metabolic disease	Autosomal dominant primary hypomagnesemia with hypocalciuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	6848639	\N	\N	EFO	10	EFO	material property	Autosomal dominant primary hypomagnesemia with hypocalciuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	6151638	\N	\N	EFO	8	EFO	disease	Autosomal dominant primary hypomagnesemia with hypocalciuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34528	"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." []	7068493	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant primary hypomagnesemia with hypocalciuria
Orphanet:3453	\N	\N	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	76843	\N	\N	EFO	0	EFO	Autoimmune polyendocrinopathy type 1	Autoimmune polyendocrinopathy type 1
Orphanet:101960	Orphanet:3453	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	220084	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	Autoimmune polyendocrinopathy type 1
Orphanet:169355	Orphanet:3453	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	220085	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with autoimmunity	Autoimmune polyendocrinopathy type 1
Orphanet:183643	Orphanet:3453	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	220086	\N	\N	EFO	1	EFO	Genetic polyendocrinopathy	Autoimmune polyendocrinopathy type 1
Orphanet:208593	Orphanet:3453	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	220087	\N	\N	EFO	1	EFO	Genetic hypoparathyroidism	Autoimmune polyendocrinopathy type 1
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	575647	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Autoimmune polyendocrinopathy type 1
Orphanet:169361	Orphanet:169355	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	575648	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Autoimmune polyendocrinopathy type 1
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	575649	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Autoimmune polyendocrinopathy type 1
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	575650	\N	\N	EFO	2	EFO	parathyroid disease	Autoimmune polyendocrinopathy type 1
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	575651	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Autoimmune polyendocrinopathy type 1
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	1158660	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Autoimmune polyendocrinopathy type 1
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	1158661	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Autoimmune polyendocrinopathy type 1
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	2041916	\N	\N	EFO	4	EFO	genetic disorder	Autoimmune polyendocrinopathy type 1
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	2041917	\N	\N	EFO	4	EFO	endocrine system disease	Autoimmune polyendocrinopathy type 1
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	1158664	\N	\N	EFO	3	EFO	calcium metabolic disease	Autoimmune polyendocrinopathy type 1
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	1158665	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Autoimmune polyendocrinopathy type 1
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	2041918	\N	\N	EFO	4	EFO	Primary immunodeficiency	Autoimmune polyendocrinopathy type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	5415885	\N	\N	EFO	7	EFO	disease	Autoimmune polyendocrinopathy type 1
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	3000328	\N	\N	EFO	5	EFO	disease	Autoimmune polyendocrinopathy type 1
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	2041921	\N	\N	EFO	4	EFO	metabolic disease	Autoimmune polyendocrinopathy type 1
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	3192203	\N	\N	EFO	5	EFO	Rare genetic immune disease	Autoimmune polyendocrinopathy type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	5817720	\N	\N	EFO	8	EFO	disposition	Autoimmune polyendocrinopathy type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	3192205	\N	\N	EFO	5	EFO	disease	Autoimmune polyendocrinopathy type 1
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	4398731	\N	\N	EFO	6	EFO	genetic disorder	Autoimmune polyendocrinopathy type 1
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	4398732	\N	\N	EFO	6	EFO	immune system disease	Autoimmune polyendocrinopathy type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	6410169	\N	\N	EFO	9	EFO	material property	Autoimmune polyendocrinopathy type 1
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	5415886	\N	\N	EFO	7	EFO	disease	Autoimmune polyendocrinopathy type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3453	"Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." []	6808003	\N	\N	EFO	10	EFO	experimental factor	Autoimmune polyendocrinopathy type 1
Orphanet:34533	\N	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:34533	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	76844	\N	\N	EFO	0	EFO	Corneal dystrophy	Corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:34533	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	220088	\N	\N	EFO	1	EFO	Rare genetic eye disease	Corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34533	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	575652	\N	\N	EFO	2	EFO	genetic disorder	Corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:34533	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	575653	\N	\N	EFO	2	EFO	eye disease	Corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34533	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	1158666	\N	\N	EFO	3	EFO	disease	Corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34533	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	1158667	\N	\N	EFO	3	EFO	disease	Corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34533	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	2041922	\N	\N	EFO	4	EFO	disposition	Corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34533	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	3192206	\N	\N	EFO	5	EFO	material property	Corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34533	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	4398734	\N	\N	EFO	6	EFO	experimental factor	Corneal dystrophy
Orphanet:3454	\N	\N	"" []	Orphanet:3454	"" []	76845	\N	\N	EFO	0	EFO	Intellectual disability-developmental delay-contractures syndrome	Intellectual disability-developmental delay-contractures syndrome
Orphanet:1037	Orphanet:3454	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:3454	"" []	220089	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Intellectual disability-developmental delay-contractures syndrome
Orphanet:206634	Orphanet:3454	\N	"" []	Orphanet:3454	"" []	220090	\N	\N	EFO	1	EFO	Genetic skeletal muscle disease	Intellectual disability-developmental delay-contractures syndrome
Orphanet:98464	Orphanet:3454	\N	"" []	Orphanet:3454	"" []	220091	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Intellectual disability-developmental delay-contractures syndrome
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:3454	"" []	575654	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Intellectual disability-developmental delay-contractures syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:3454	"" []	575655	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Intellectual disability-developmental delay-contractures syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3454	"" []	575656	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability-developmental delay-contractures syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:3454	"" []	1158668	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Intellectual disability-developmental delay-contractures syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:3454	"" []	1158669	\N	\N	EFO	3	EFO	muscular disease	Intellectual disability-developmental delay-contractures syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:3454	"" []	1158670	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability-developmental delay-contractures syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3454	"" []	1158671	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Intellectual disability-developmental delay-contractures syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:3454	"" []	2041923	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Intellectual disability-developmental delay-contractures syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3454	"" []	2041924	\N	\N	EFO	4	EFO	skeletal system disease	Intellectual disability-developmental delay-contractures syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3454	"" []	3192210	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability-developmental delay-contractures syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3454	"" []	2041926	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Intellectual disability-developmental delay-contractures syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:3454	"" []	3192207	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-developmental delay-contractures syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3454	"" []	3192208	\N	\N	EFO	5	EFO	disease	Intellectual disability-developmental delay-contractures syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3454	"" []	5415888	\N	\N	EFO	7	EFO	disease	Intellectual disability-developmental delay-contractures syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3454	"" []	4398735	\N	\N	EFO	6	EFO	genetic disorder	Intellectual disability-developmental delay-contractures syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3454	"" []	5877403	\N	\N	EFO	8	EFO	disposition	Intellectual disability-developmental delay-contractures syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3454	"" []	6470641	\N	\N	EFO	9	EFO	material property	Intellectual disability-developmental delay-contractures syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3454	"" []	6848640	\N	\N	EFO	10	EFO	experimental factor	Intellectual disability-developmental delay-contractures syndrome
Orphanet:3455	\N	\N	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	76846	\N	\N	EFO	0	EFO	Wiedemann-Rautenstrauch syndrome	Wiedemann-Rautenstrauch syndrome
Orphanet:102283	Orphanet:3455	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	220092	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Wiedemann-Rautenstrauch syndrome
Orphanet:139027	Orphanet:3455	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	220093	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Wiedemann-Rautenstrauch syndrome
Orphanet:183763	Orphanet:3455	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	220094	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Wiedemann-Rautenstrauch syndrome
Orphanet:363245	Orphanet:3455	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	220095	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Wiedemann-Rautenstrauch syndrome
Orphanet:79389	Orphanet:3455	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	220096	\N	\N	EFO	1	EFO	Premature aging	Wiedemann-Rautenstrauch syndrome
Orphanet:98305	Orphanet:3455	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	220097	\N	\N	EFO	1	EFO	Genetic lipodystrophy	Wiedemann-Rautenstrauch syndrome
Orphanet:98571	Orphanet:3455	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	220098	\N	\N	EFO	1	EFO	Secondary ectropion	Wiedemann-Rautenstrauch syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	575657	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Wiedemann-Rautenstrauch syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	575658	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Wiedemann-Rautenstrauch syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	575659	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Wiedemann-Rautenstrauch syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	575660	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Wiedemann-Rautenstrauch syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	575661	\N	\N	EFO	2	EFO	Rare genetic skin disease	Wiedemann-Rautenstrauch syndrome
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	575662	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Wiedemann-Rautenstrauch syndrome
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	575663	\N	\N	EFO	2	EFO	Primary lipodystrophy	Wiedemann-Rautenstrauch syndrome
Orphanet:98567	Orphanet:98571	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	575664	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Wiedemann-Rautenstrauch syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	1158672	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Wiedemann-Rautenstrauch syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	2041927	\N	\N	EFO	4	EFO	genetic disorder	Wiedemann-Rautenstrauch syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	1158674	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Wiedemann-Rautenstrauch syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	3192212	\N	\N	EFO	5	EFO	genetic disorder	Wiedemann-Rautenstrauch syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	3192213	\N	\N	EFO	5	EFO	skin disease	Wiedemann-Rautenstrauch syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	1158677	\N	\N	EFO	3	EFO	genetic disorder	Wiedemann-Rautenstrauch syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	1158678	\N	\N	EFO	3	EFO	endocrine system disease	Wiedemann-Rautenstrauch syndrome
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	1158679	\N	\N	EFO	3	EFO	Genetic subcutaneous tissue disorder	Wiedemann-Rautenstrauch syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	1158680	\N	\N	EFO	3	EFO	Rare palpebral disease	Wiedemann-Rautenstrauch syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	5415891	\N	\N	EFO	7	EFO	disease	Wiedemann-Rautenstrauch syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	2041929	\N	\N	EFO	4	EFO	genetic disorder	Wiedemann-Rautenstrauch syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	4066942	\N	\N	EFO	6	EFO	disease	Wiedemann-Rautenstrauch syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	2041931	\N	\N	EFO	4	EFO	disease	Wiedemann-Rautenstrauch syndrome
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	2041932	\N	\N	EFO	4	EFO	Rare genetic skin disease	Wiedemann-Rautenstrauch syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	2041933	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Wiedemann-Rautenstrauch syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	5817721	\N	\N	EFO	8	EFO	disposition	Wiedemann-Rautenstrauch syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	3192214	\N	\N	EFO	5	EFO	Rare genetic eye disease	Wiedemann-Rautenstrauch syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	6410170	\N	\N	EFO	9	EFO	material property	Wiedemann-Rautenstrauch syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	4398738	\N	\N	EFO	6	EFO	genetic disorder	Wiedemann-Rautenstrauch syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	4398739	\N	\N	EFO	6	EFO	eye disease	Wiedemann-Rautenstrauch syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	6808004	\N	\N	EFO	10	EFO	experimental factor	Wiedemann-Rautenstrauch syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3455	"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." []	5415892	\N	\N	EFO	7	EFO	disease	Wiedemann-Rautenstrauch syndrome
Orphanet:3456	\N	\N	"" []	Orphanet:3456	"" []	76847	\N	\N	EFO	0	EFO	Wildervanck syndrome	Wildervanck syndrome
Orphanet:183576	Orphanet:3456	\N	"" []	Orphanet:3456	"" []	220099	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Wildervanck syndrome
Orphanet:93454	Orphanet:3456	\N	"" []	Orphanet:3456	"" []	220100	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Wildervanck syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:3456	"" []	575665	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Wildervanck syndrome
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:3456	"" []	575666	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Wildervanck syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3456	"" []	3192218	\N	\N	EFO	5	EFO	genetic disorder	Wildervanck syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:3456	"" []	1158682	\N	\N	EFO	3	EFO	Rare genetic bone disease	Wildervanck syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:3456	"" []	1158683	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Wildervanck syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3456	"" []	4066943	\N	\N	EFO	6	EFO	disease	Wildervanck syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3456	"" []	2041935	\N	\N	EFO	4	EFO	genetic disorder	Wildervanck syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3456	"" []	2041936	\N	\N	EFO	4	EFO	bone disease	Wildervanck syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3456	"" []	2041937	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Wildervanck syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3456	"" []	5060038	\N	\N	EFO	7	EFO	disposition	Wildervanck syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3456	"" []	3192217	\N	\N	EFO	5	EFO	skeletal system disease	Wildervanck syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3456	"" []	5877405	\N	\N	EFO	8	EFO	material property	Wildervanck syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3456	"" []	4398741	\N	\N	EFO	6	EFO	disease	Wildervanck syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3456	"" []	6470643	\N	\N	EFO	9	EFO	experimental factor	Wildervanck syndrome
Orphanet:34587	\N	\N	"" []	Orphanet:34587	"" []	76848	\N	\N	EFO	0	EFO	Glycogen storage disease due to LAMP-2 deficiency	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:182076	Orphanet:34587	\N	"" []	Orphanet:34587	"" []	220101	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:206959	Orphanet:34587	\N	"" []	Orphanet:34587	"" []	220102	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:217572	Orphanet:34587	\N	"" []	Orphanet:34587	"" []	220103	\N	\N	EFO	1	EFO	Glycogen storage disease with hypertrophic cardiomyopathy	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:309337	Orphanet:34587	\N	"" []	Orphanet:34587	"" []	220104	\N	\N	EFO	1	EFO	Lysosomal glycogen storage disease	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:79201	Orphanet:34587	\N	"" []	Orphanet:34587	"" []	220105	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:34587	"" []	575667	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:34587	"" []	575668	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:99739	Orphanet:217572	\N	"" []	Orphanet:34587	"" []	575669	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:68366	Orphanet:309337	\N	"" []	Orphanet:34587	"" []	575670	\N	\N	EFO	2	EFO	Lysosomal disease	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:34587	"" []	575671	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:34587	"" []	1158684	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:34587	"" []	1158685	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:34587	"" []	1158686	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:34587	"" []	1158687	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:34587	"" []	1158688	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:34587	"" []	2041938	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:34587	"" []	2041939	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to LAMP-2 deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34587	"" []	2041940	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to LAMP-2 deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:34587	"" []	2041941	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to LAMP-2 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34587	"" []	2041942	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to LAMP-2 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:34587	"" []	2041943	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:34587	"" []	3192219	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:34587	"" []	3192220	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to LAMP-2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34587	"" []	5998149	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to LAMP-2 deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:34587	"" []	3192222	\N	\N	EFO	5	EFO	cardiovascular disease	Glycogen storage disease due to LAMP-2 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34587	"" []	3192223	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to LAMP-2 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34587	"" []	5415896	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to LAMP-2 deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:34587	"" []	4398743	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:34587	"" []	4398744	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to LAMP-2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34587	"" []	6410171	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to LAMP-2 deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34587	"" []	4398746	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to LAMP-2 deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:34587	"" []	5415895	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to LAMP-2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34587	"" []	6808005	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to LAMP-2 deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34587	"" []	6151640	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to LAMP-2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34587	"" []	7048716	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to LAMP-2 deficiency
Orphanet:3459	\N	\N	"" []	Orphanet:3459	"" []	76849	\N	\N	EFO	0	EFO	Wilson-Turner syndrome	Wilson-Turner syndrome
Orphanet:240371	Orphanet:3459	\N	"" []	Orphanet:3459	"" []	220106	\N	\N	EFO	1	EFO	Syndromic obesity	Wilson-Turner syndrome
Orphanet:98464	Orphanet:3459	\N	"" []	Orphanet:3459	"" []	220107	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Wilson-Turner syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:3459	"" []	575672	\N	\N	EFO	2	EFO	Genetic obesity	Wilson-Turner syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:3459	"" []	575673	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Wilson-Turner syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:3459	"" []	1158689	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Wilson-Turner syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:3459	"" []	1158690	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Wilson-Turner syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3459	"" []	1158691	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Wilson-Turner syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3459	"" []	2041944	\N	\N	EFO	4	EFO	genetic disorder	Wilson-Turner syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3459	"" []	2041945	\N	\N	EFO	4	EFO	endocrine system disease	Wilson-Turner syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:3459	"" []	2041946	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Wilson-Turner syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3459	"" []	2041947	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Wilson-Turner syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3459	"" []	4398748	\N	\N	EFO	6	EFO	disease	Wilson-Turner syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3459	"" []	3192225	\N	\N	EFO	5	EFO	disease	Wilson-Turner syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3459	"" []	3192226	\N	\N	EFO	5	EFO	genetic disorder	Wilson-Turner syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3459	"" []	3192227	\N	\N	EFO	5	EFO	genetic disorder	Wilson-Turner syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3459	"" []	5182776	\N	\N	EFO	7	EFO	disposition	Wilson-Turner syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3459	"" []	5998151	\N	\N	EFO	8	EFO	material property	Wilson-Turner syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3459	"" []	6551416	\N	\N	EFO	9	EFO	experimental factor	Wilson-Turner syndrome
Orphanet:34592	\N	\N	"" []	Orphanet:34592	"" []	76850	\N	\N	EFO	0	EFO	Immunodeficiency by defective expression of HLA class 1	Immunodeficiency by defective expression of HLA class 1
Orphanet:101972	Orphanet:34592	\N	"" []	Orphanet:34592	"" []	220108	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Immunodeficiency by defective expression of HLA class 1
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:34592	"" []	575674	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immunodeficiency by defective expression of HLA class 1
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:34592	"" []	1158692	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency by defective expression of HLA class 1
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:34592	"" []	2041948	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency by defective expression of HLA class 1
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:34592	"" []	3192228	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency by defective expression of HLA class 1
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:34592	"" []	3192229	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency by defective expression of HLA class 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34592	"" []	4398749	\N	\N	EFO	6	EFO	disease	Immunodeficiency by defective expression of HLA class 1
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:34592	"" []	4398750	\N	\N	EFO	6	EFO	disease	Immunodeficiency by defective expression of HLA class 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:34592	"" []	5415900	\N	\N	EFO	7	EFO	disposition	Immunodeficiency by defective expression of HLA class 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:34592	"" []	6151643	\N	\N	EFO	8	EFO	material property	Immunodeficiency by defective expression of HLA class 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:34592	"" []	6633740	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency by defective expression of HLA class 1
Orphanet:3460	\N	\N	"" []	Orphanet:3460	"" []	76851	\N	\N	EFO	0	EFO	Torg-Winchester syndrome	Torg-Winchester syndrome
Orphanet:371428	Orphanet:3460	\N	"" []	Orphanet:3460	"" []	220109	\N	\N	EFO	1	EFO	Multicentric osteolysis-nodulosis-arthropathy spectrum	Torg-Winchester syndrome
Orphanet:93449	Orphanet:371428	\N	"" []	Orphanet:3460	"" []	575675	\N	\N	EFO	2	EFO	Primary osteolysis	Torg-Winchester syndrome
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:3460	"" []	1158693	\N	\N	EFO	3	EFO	Primary bone dysplasia	Torg-Winchester syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3460	"" []	2041949	\N	\N	EFO	4	EFO	Rare genetic bone disease	Torg-Winchester syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3460	"" []	2041950	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Torg-Winchester syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3460	"" []	3192230	\N	\N	EFO	5	EFO	genetic disorder	Torg-Winchester syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3460	"" []	3192231	\N	\N	EFO	5	EFO	bone disease	Torg-Winchester syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3460	"" []	3192232	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Torg-Winchester syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3460	"" []	5415903	\N	\N	EFO	7	EFO	disease	Torg-Winchester syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3460	"" []	4398752	\N	\N	EFO	6	EFO	skeletal system disease	Torg-Winchester syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3460	"" []	4398753	\N	\N	EFO	6	EFO	genetic disorder	Torg-Winchester syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3460	"" []	5998152	\N	\N	EFO	8	EFO	disposition	Torg-Winchester syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3460	"" []	5415902	\N	\N	EFO	7	EFO	disease	Torg-Winchester syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3460	"" []	6551417	\N	\N	EFO	9	EFO	material property	Torg-Winchester syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3460	"" []	6889427	\N	\N	EFO	10	EFO	experimental factor	Torg-Winchester syndrome
Orphanet:3463	\N	\N	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	76852	\N	\N	EFO	0	EFO	Wolfram syndrome	Wolfram syndrome
Orphanet:183625	Orphanet:3463	\N	"" []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	220110	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Wolfram syndrome
Orphanet:90642	Orphanet:3463	\N	"" []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	220111	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Wolfram syndrome
Orphanet:98677	Orphanet:3463	\N	"" []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	220112	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	Wolfram syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	575676	\N	\N	EFO	2	EFO	diabetes mellitus	Wolfram syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	575677	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Wolfram syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	575678	\N	\N	EFO	2	EFO	Rare genetic deafness	Wolfram syndrome
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	575679	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	Wolfram syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	1158694	\N	\N	EFO	3	EFO	metabolic disease	Wolfram syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	1158695	\N	\N	EFO	3	EFO	genetic disorder	Wolfram syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	1158696	\N	\N	EFO	3	EFO	endocrine system disease	Wolfram syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	1158697	\N	\N	EFO	3	EFO	genetic disorder	Wolfram syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	1158698	\N	\N	EFO	3	EFO	auditory system disease	Wolfram syndrome
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	1158699	\N	\N	EFO	3	EFO	Genetic optic atrophy	Wolfram syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	2041951	\N	\N	EFO	4	EFO	disease	Wolfram syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	5415906	\N	\N	EFO	7	EFO	disease	Wolfram syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	2041953	\N	\N	EFO	4	EFO	disease	Wolfram syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	2041954	\N	\N	EFO	4	EFO	sensory system disease	Wolfram syndrome
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	2041955	\N	\N	EFO	4	EFO	Optic neuropathy	Wolfram syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	5817722	\N	\N	EFO	8	EFO	disposition	Wolfram syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	3192234	\N	\N	EFO	5	EFO	nervous system disease	Wolfram syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	3192235	\N	\N	EFO	5	EFO	Rare genetic eye disease	Wolfram syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	6410172	\N	\N	EFO	9	EFO	material property	Wolfram syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	4398755	\N	\N	EFO	6	EFO	disease	Wolfram syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	4398756	\N	\N	EFO	6	EFO	genetic disorder	Wolfram syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	4398757	\N	\N	EFO	6	EFO	eye disease	Wolfram syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	6808006	\N	\N	EFO	10	EFO	experimental factor	Wolfram syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3463	"Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." []	5415907	\N	\N	EFO	7	EFO	disease	Wolfram syndrome
Orphanet:3464	\N	\N	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	76853	\N	\N	EFO	0	EFO	Woodhouse-Sakati syndrome	Woodhouse-Sakati syndrome
Orphanet:181387	Orphanet:3464	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	220113	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Woodhouse-Sakati syndrome
Orphanet:181441	Orphanet:3464	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	220114	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Woodhouse-Sakati syndrome
Orphanet:183625	Orphanet:3464	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	220115	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Woodhouse-Sakati syndrome
Orphanet:183763	Orphanet:3464	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	220116	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Woodhouse-Sakati syndrome
Orphanet:370106	Orphanet:3464	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	220117	\N	\N	EFO	1	EFO	Rare disorder with dystonia and other neurologic or systemic manifestation	Woodhouse-Sakati syndrome
Orphanet:385	Orphanet:3464	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	220118	\N	\N	EFO	1	EFO	Neurodegeneration with brain iron accumulation	Woodhouse-Sakati syndrome
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	575680	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Woodhouse-Sakati syndrome
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	575681	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Woodhouse-Sakati syndrome
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	575682	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Woodhouse-Sakati syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	575683	\N	\N	EFO	2	EFO	diabetes mellitus	Woodhouse-Sakati syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	575684	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Woodhouse-Sakati syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	575685	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Woodhouse-Sakati syndrome
Orphanet:391799	Orphanet:370106	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	575686	\N	\N	EFO	2	EFO	Rare genetic dystonia	Woodhouse-Sakati syndrome
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	575687	\N	\N	EFO	2	EFO	Genetic dementia	Woodhouse-Sakati syndrome
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	575688	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Woodhouse-Sakati syndrome
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	575689	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Woodhouse-Sakati syndrome
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	575690	\N	\N	EFO	2	EFO	Neurometabolic disease	Woodhouse-Sakati syndrome
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158700	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Woodhouse-Sakati syndrome
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158701	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Woodhouse-Sakati syndrome
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158702	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Woodhouse-Sakati syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	5415910	\N	\N	EFO	7	EFO	genetic disorder	Woodhouse-Sakati syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	5415911	\N	\N	EFO	7	EFO	endocrine system disease	Woodhouse-Sakati syndrome
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158705	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Woodhouse-Sakati syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158706	\N	\N	EFO	3	EFO	metabolic disease	Woodhouse-Sakati syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158707	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Woodhouse-Sakati syndrome
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158708	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Woodhouse-Sakati syndrome
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158709	\N	\N	EFO	3	EFO	brain disease	Woodhouse-Sakati syndrome
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158710	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Woodhouse-Sakati syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158711	\N	\N	EFO	3	EFO	neurodegenerative disease	Woodhouse-Sakati syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158712	\N	\N	EFO	3	EFO	brain disease	Woodhouse-Sakati syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158713	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Woodhouse-Sakati syndrome
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158714	\N	\N	EFO	3	EFO	neurodegenerative disease	Woodhouse-Sakati syndrome
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158715	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Woodhouse-Sakati syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	1158716	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Woodhouse-Sakati syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	2041956	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Woodhouse-Sakati syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	2041957	\N	\N	EFO	4	EFO	Rare genetic male infertility	Woodhouse-Sakati syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	2041958	\N	\N	EFO	4	EFO	Pituitary deficiency	Woodhouse-Sakati syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	5801864	\N	\N	EFO	8	EFO	disease	Woodhouse-Sakati syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	5801865	\N	\N	EFO	8	EFO	disease	Woodhouse-Sakati syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	2041961	\N	\N	EFO	4	EFO	disease	Woodhouse-Sakati syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	3192243	\N	\N	EFO	5	EFO	genetic disorder	Woodhouse-Sakati syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	2041963	\N	\N	EFO	4	EFO	movement disorder	Woodhouse-Sakati syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	2041964	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Woodhouse-Sakati syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	2041965	\N	\N	EFO	4	EFO	nervous system disease	Woodhouse-Sakati syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	2041966	\N	\N	EFO	4	EFO	nervous system disease	Woodhouse-Sakati syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	3192236	\N	\N	EFO	5	EFO	genetic disorder	Woodhouse-Sakati syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	3192237	\N	\N	EFO	5	EFO	reproductive system disease	Woodhouse-Sakati syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	3192238	\N	\N	EFO	5	EFO	Genetic infertility	Woodhouse-Sakati syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	3192239	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Woodhouse-Sakati syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	6378937	\N	\N	EFO	9	EFO	disposition	Woodhouse-Sakati syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	3192242	\N	\N	EFO	5	EFO	nervous system disease	Woodhouse-Sakati syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	4398763	\N	\N	EFO	6	EFO	disease	Woodhouse-Sakati syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	5415909	\N	\N	EFO	7	EFO	disease	Woodhouse-Sakati syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	4398759	\N	\N	EFO	6	EFO	genetic disorder	Woodhouse-Sakati syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	4398760	\N	\N	EFO	6	EFO	reproductive system disease	Woodhouse-Sakati syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	4398761	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Woodhouse-Sakati syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	6778754	\N	\N	EFO	10	EFO	material property	Woodhouse-Sakati syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3464	"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." []	7029950	\N	\N	EFO	11	EFO	experimental factor	Woodhouse-Sakati syndrome
Orphanet:3466	\N	\N	"" []	Orphanet:3466	"" []	76854	\N	\N	EFO	0	EFO	WT limb-blood syndrome	WT limb-blood syndrome
Orphanet:68383	Orphanet:3466	\N	"" []	Orphanet:3466	"" []	220119	\N	\N	EFO	1	EFO	Rare constitutional medullar aplasia	WT limb-blood syndrome
Orphanet:182040	Orphanet:68383	\N	"" []	Orphanet:3466	"" []	575691	\N	\N	EFO	2	EFO	Medullar aplasia	WT limb-blood syndrome
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:3466	"" []	1158717	\N	\N	EFO	3	EFO	Rare constitutional anemia	WT limb-blood syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:3466	"" []	2041967	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	WT limb-blood syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3466	"" []	3192245	\N	\N	EFO	5	EFO	genetic disorder	WT limb-blood syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:3466	"" []	3192246	\N	\N	EFO	5	EFO	hematological system disease	WT limb-blood syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3466	"" []	4398764	\N	\N	EFO	6	EFO	disease	WT limb-blood syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3466	"" []	4398765	\N	\N	EFO	6	EFO	disease	WT limb-blood syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3466	"" []	5415913	\N	\N	EFO	7	EFO	disposition	WT limb-blood syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3466	"" []	6151645	\N	\N	EFO	8	EFO	material property	WT limb-blood syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3466	"" []	6633742	\N	\N	EFO	9	EFO	experimental factor	WT limb-blood syndrome
Orphanet:3467	\N	\N	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	76855	\N	\N	EFO	0	EFO	Hereditary xanthinuria	Hereditary xanthinuria
Orphanet:79191	Orphanet:3467	\N	"" []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	220120	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Hereditary xanthinuria
Orphanet:93593	Orphanet:3467	\N	"" []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	220121	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Hereditary xanthinuria
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	575692	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Hereditary xanthinuria
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	575693	\N	\N	EFO	2	EFO	Rare genetic renal disease	Hereditary xanthinuria
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	1158718	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hereditary xanthinuria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	1158719	\N	\N	EFO	3	EFO	genetic disorder	Hereditary xanthinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	2041968	\N	\N	EFO	4	EFO	genetic disorder	Hereditary xanthinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	2041969	\N	\N	EFO	4	EFO	metabolic disease	Hereditary xanthinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	3192247	\N	\N	EFO	5	EFO	disease	Hereditary xanthinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	3192248	\N	\N	EFO	5	EFO	disease	Hereditary xanthinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	4133956	\N	\N	EFO	6	EFO	disposition	Hereditary xanthinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	5182778	\N	\N	EFO	7	EFO	material property	Hereditary xanthinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3467	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	5998154	\N	\N	EFO	8	EFO	experimental factor	Hereditary xanthinuria
Orphanet:347	\N	\N	"" []	Orphanet:347	"" []	76856	\N	\N	EFO	0	EFO	Frasier syndrome	Frasier syndrome
Orphanet:102373	Orphanet:347	\N	"" []	Orphanet:347	"" []	220122	\N	\N	EFO	1	EFO	Primary glomerular disease	Frasier syndrome
Orphanet:183422	Orphanet:347	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:347	"" []	220123	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Frasier syndrome
Orphanet:325638	Orphanet:347	\N	"" []	Orphanet:347	"" []	220124	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Frasier syndrome
Orphanet:98087	Orphanet:347	\N	"" []	Orphanet:347	"" []	220125	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	Frasier syndrome
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:347	"" []	575694	\N	\N	EFO	2	EFO	Genetic glomerular disease	Frasier syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:347	"" []	575695	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Frasier syndrome
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:347	"" []	575696	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Frasier syndrome
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:347	"" []	575697	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Frasier syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:347	"" []	1158720	\N	\N	EFO	3	EFO	Rare genetic renal disease	Frasier syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:347	"" []	1158721	\N	\N	EFO	3	EFO	genetic disorder	Frasier syndrome
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:347	"" []	1158722	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Frasier syndrome
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:347	"" []	1158723	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Frasier syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:347	"" []	2041971	\N	\N	EFO	4	EFO	genetic disorder	Frasier syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:347	"" []	4398768	\N	\N	EFO	6	EFO	disease	Frasier syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:347	"" []	2041973	\N	\N	EFO	4	EFO	genetic disorder	Frasier syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:347	"" []	2041974	\N	\N	EFO	4	EFO	reproductive system disease	Frasier syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:347	"" []	2041975	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Frasier syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:347	"" []	2041976	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Frasier syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:347	"" []	2041977	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Frasier syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:347	"" []	5060040	\N	\N	EFO	7	EFO	disposition	Frasier syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:347	"" []	3192252	\N	\N	EFO	5	EFO	disease	Frasier syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:347	"" []	3192253	\N	\N	EFO	5	EFO	genetic disorder	Frasier syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:347	"" []	3192254	\N	\N	EFO	5	EFO	genetic disorder	Frasier syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:347	"" []	3192255	\N	\N	EFO	5	EFO	endocrine system disease	Frasier syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:347	"" []	3192256	\N	\N	EFO	5	EFO	genetic disorder	Frasier syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:347	"" []	5877409	\N	\N	EFO	8	EFO	material property	Frasier syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:347	"" []	4398769	\N	\N	EFO	6	EFO	disease	Frasier syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:347	"" []	6470647	\N	\N	EFO	9	EFO	experimental factor	Frasier syndrome
Orphanet:3471	\N	\N	"" []	Orphanet:3471	"" []	76857	\N	\N	EFO	0	EFO	Young syndrome	Young syndrome
Orphanet:156610	Orphanet:3471	\N	"" []	Orphanet:3471	"" []	220126	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Young syndrome
Orphanet:400003	Orphanet:3471	\N	"" []	Orphanet:3471	"" []	220127	\N	\N	EFO	1	EFO	Rare genetic disorder with obstructive azoospermia	Young syndrome
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3471	"" []	575698	\N	\N	EFO	2	EFO	genetic disorder	Young syndrome
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:3471	"" []	575699	\N	\N	EFO	2	EFO	respiratory system disease	Young syndrome
Orphanet:399998	Orphanet:400003	\N	"" []	Orphanet:3471	"" []	575700	\N	\N	EFO	2	EFO	Male infertility due to obstructive azoospermia of genetic origin	Young syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3471	"" []	4398771	\N	\N	EFO	6	EFO	disease	Young syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3471	"" []	1158725	\N	\N	EFO	3	EFO	disease	Young syndrome
Orphanet:399980	Orphanet:399998	\N	"" []	Orphanet:3471	"" []	1158726	\N	\N	EFO	3	EFO	Rare genetic male infertility	Young syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3471	"" []	5028442	\N	\N	EFO	7	EFO	disposition	Young syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:3471	"" []	2041979	\N	\N	EFO	4	EFO	Genetic infertility	Young syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3471	"" []	5817724	\N	\N	EFO	8	EFO	material property	Young syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3471	"" []	3192258	\N	\N	EFO	5	EFO	genetic disorder	Young syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:3471	"" []	3192259	\N	\N	EFO	5	EFO	reproductive system disease	Young syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3471	"" []	6410174	\N	\N	EFO	9	EFO	experimental factor	Young syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3471	"" []	4398772	\N	\N	EFO	6	EFO	disease	Young syndrome
Orphanet:3472	\N	\N	"" []	Orphanet:3472	"" []	76858	\N	\N	EFO	0	EFO	Yunis-Varon syndrome	Yunis-Varon syndrome
Orphanet:93451	Orphanet:3472	\N	"" []	Orphanet:3472	"" []	220128	\N	\N	EFO	1	EFO	Cleidocranial dysplasia and isolated cranial ossification defect	Yunis-Varon syndrome
Orphanet:364526	Orphanet:93451	\N	"" []	Orphanet:3472	"" []	575701	\N	\N	EFO	2	EFO	Primary bone dysplasia	Yunis-Varon syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:3472	"" []	1158727	\N	\N	EFO	3	EFO	Rare genetic bone disease	Yunis-Varon syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:3472	"" []	1158728	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Yunis-Varon syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3472	"" []	2041980	\N	\N	EFO	4	EFO	genetic disorder	Yunis-Varon syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:3472	"" []	2041981	\N	\N	EFO	4	EFO	bone disease	Yunis-Varon syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:3472	"" []	2041982	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Yunis-Varon syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3472	"" []	4398775	\N	\N	EFO	6	EFO	disease	Yunis-Varon syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:3472	"" []	3192261	\N	\N	EFO	5	EFO	skeletal system disease	Yunis-Varon syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3472	"" []	3192262	\N	\N	EFO	5	EFO	genetic disorder	Yunis-Varon syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3472	"" []	5182780	\N	\N	EFO	7	EFO	disposition	Yunis-Varon syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3472	"" []	4398774	\N	\N	EFO	6	EFO	disease	Yunis-Varon syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3472	"" []	5998156	\N	\N	EFO	8	EFO	material property	Yunis-Varon syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3472	"" []	6551418	\N	\N	EFO	9	EFO	experimental factor	Yunis-Varon syndrome
Orphanet:3473	\N	\N	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	76859	\N	\N	EFO	0	EFO	Zimmermann-Laband syndrome	Zimmermann-Laband syndrome
Orphanet:102283	Orphanet:3473	\N	"" []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	220129	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Zimmermann-Laband syndrome
Orphanet:183580	Orphanet:3473	\N	"" []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	220130	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Zimmermann-Laband syndrome
Orphanet:183763	Orphanet:3473	\N	"" []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	220131	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Zimmermann-Laband syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	575702	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Zimmermann-Laband syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	575703	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Zimmermann-Laband syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	575704	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Zimmermann-Laband syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	1158729	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Zimmermann-Laband syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	2041983	\N	\N	EFO	4	EFO	genetic disorder	Zimmermann-Laband syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	1158731	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Zimmermann-Laband syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	3000330	\N	\N	EFO	5	EFO	disease	Zimmermann-Laband syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	2041985	\N	\N	EFO	4	EFO	genetic disorder	Zimmermann-Laband syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	4133958	\N	\N	EFO	6	EFO	disposition	Zimmermann-Laband syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	5182781	\N	\N	EFO	7	EFO	material property	Zimmermann-Laband syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3473	"Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." []	5998157	\N	\N	EFO	8	EFO	experimental factor	Zimmermann-Laband syndrome
Orphanet:3474	\N	\N	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	76860	\N	\N	EFO	0	EFO	CHIME syndrome	CHIME syndrome
Orphanet:102283	Orphanet:3474	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	220132	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	CHIME syndrome
Orphanet:108987	Orphanet:3474	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	220133	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	CHIME syndrome
Orphanet:309515	Orphanet:3474	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	220134	\N	\N	EFO	1	EFO	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	CHIME syndrome
Orphanet:371064	Orphanet:3474	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	220135	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	CHIME syndrome
Orphanet:371071	Orphanet:3474	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	220136	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	CHIME syndrome
Orphanet:371183	Orphanet:3474	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	220137	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with cardiac malformation as a major feature	CHIME syndrome
Orphanet:371200	Orphanet:3474	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	220138	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	CHIME syndrome
Orphanet:371212	Orphanet:3474	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	220139	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with deafness as a major feature	CHIME syndrome
Orphanet:79373	Orphanet:3474	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	220140	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	CHIME syndrome
Orphanet:98558	Orphanet:3474	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	220141	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	CHIME syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575705	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	CHIME syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575706	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	CHIME syndrome
Orphanet:137	Orphanet:309515	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575707	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	CHIME syndrome
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575708	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	CHIME syndrome
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575709	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	CHIME syndrome
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575710	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	CHIME syndrome
Orphanet:156532	Orphanet:371183	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575711	\N	\N	EFO	2	EFO	Rare syndrome with cardiac malformations	CHIME syndrome
Orphanet:371235	Orphanet:371183	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575712	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	CHIME syndrome
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575713	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	CHIME syndrome
Orphanet:371235	Orphanet:371212	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575714	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	CHIME syndrome
Orphanet:90642	Orphanet:371212	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575715	\N	\N	EFO	2	EFO	Syndromic genetic deafness	CHIME syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575716	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	CHIME syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575717	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	CHIME syndrome
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	575718	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	CHIME syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	1158732	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	CHIME syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	1158733	\N	\N	EFO	3	EFO	Rare genetic eye disease	CHIME syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	1158734	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	CHIME syndrome
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	1158735	\N	\N	EFO	3	EFO	Inborn errors of metabolism	CHIME syndrome
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	1158736	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	CHIME syndrome
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	1158737	\N	\N	EFO	3	EFO	Neurometabolic disease	CHIME syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	1158738	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	CHIME syndrome
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	1158739	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	CHIME syndrome
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	1158740	\N	\N	EFO	3	EFO	Rare genetic skin disease	CHIME syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	1158741	\N	\N	EFO	3	EFO	Rare genetic deafness	CHIME syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	1158742	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	CHIME syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	1158743	\N	\N	EFO	3	EFO	Rare genetic skin disease	CHIME syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	3192270	\N	\N	EFO	5	EFO	genetic disorder	CHIME syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041987	\N	\N	EFO	4	EFO	genetic disorder	CHIME syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041988	\N	\N	EFO	4	EFO	eye disease	CHIME syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041989	\N	\N	EFO	4	EFO	genetic disorder	CHIME syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041990	\N	\N	EFO	4	EFO	metabolic disease	CHIME syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041991	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	CHIME syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041992	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CHIME syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041993	\N	\N	EFO	4	EFO	genetic disorder	CHIME syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041994	\N	\N	EFO	4	EFO	heart disease	CHIME syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041995	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	CHIME syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041996	\N	\N	EFO	4	EFO	genetic disorder	CHIME syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041997	\N	\N	EFO	4	EFO	skin disease	CHIME syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041998	\N	\N	EFO	4	EFO	genetic disorder	CHIME syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	2041999	\N	\N	EFO	4	EFO	auditory system disease	CHIME syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	5182783	\N	\N	EFO	7	EFO	disease	CHIME syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	3192265	\N	\N	EFO	5	EFO	disease	CHIME syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	3192266	\N	\N	EFO	5	EFO	disease	CHIME syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	3192267	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	CHIME syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	4398778	\N	\N	EFO	6	EFO	genetic disorder	CHIME syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	3192269	\N	\N	EFO	5	EFO	cardiovascular disease	CHIME syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	3192271	\N	\N	EFO	5	EFO	disease	CHIME syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	3192272	\N	\N	EFO	5	EFO	sensory system disease	CHIME syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	5877410	\N	\N	EFO	8	EFO	disposition	CHIME syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	4398779	\N	\N	EFO	6	EFO	disease	CHIME syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	4398780	\N	\N	EFO	6	EFO	nervous system disease	CHIME syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	6470648	\N	\N	EFO	9	EFO	material property	CHIME syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	5415919	\N	\N	EFO	7	EFO	disease	CHIME syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:3474	"Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." []	6848642	\N	\N	EFO	10	EFO	experimental factor	CHIME syndrome
Orphanet:348	\N	\N	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	76861	\N	\N	EFO	0	EFO	Fructose-1,6-bisphosphatase deficiency	Fructose-1,6-bisphosphatase deficiency
EFO:1000061	Orphanet:348	\N	"" []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	220142	\N	\N	EFO	1	EFO	carbohydrate metabolic disorder	Fructose-1,6-bisphosphatase deficiency
Orphanet:308463	Orphanet:348	\N	"" []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	220143	\N	\N	EFO	1	EFO	Disorder of fructose metabolism	Fructose-1,6-bisphosphatase deficiency
Orphanet:79177	Orphanet:348	\N	"" []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	220144	\N	\N	EFO	1	EFO	Gluconeogenesis disorder	Fructose-1,6-bisphosphatase deficiency
EFO:0000589	EFO:1000061	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	575719	\N	\N	EFO	2	EFO	metabolic disease	Fructose-1,6-bisphosphatase deficiency
Orphanet:79161	Orphanet:308463	\N	"" []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	575720	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Fructose-1,6-bisphosphatase deficiency
Orphanet:79161	Orphanet:79177	\N	"" []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	575721	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Fructose-1,6-bisphosphatase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	3192275	\N	\N	EFO	5	EFO	disease	Fructose-1,6-bisphosphatase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	1158745	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Fructose-1,6-bisphosphatase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	4066944	\N	\N	EFO	6	EFO	disposition	Fructose-1,6-bisphosphatase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	2042001	\N	\N	EFO	4	EFO	genetic disorder	Fructose-1,6-bisphosphatase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	2042002	\N	\N	EFO	4	EFO	metabolic disease	Fructose-1,6-bisphosphatase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	5060041	\N	\N	EFO	7	EFO	material property	Fructose-1,6-bisphosphatase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	3192274	\N	\N	EFO	5	EFO	disease	Fructose-1,6-bisphosphatase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:348	"Fructose-1,6-biphosphatase (FBP) deficiency is a severe disorder of neoglucogenesis characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis that can be life-threatening in neonates and infants." []	5877411	\N	\N	EFO	8	EFO	experimental factor	Fructose-1,6-bisphosphatase deficiency
Orphanet:349	\N	\N	"" []	Orphanet:349	"" []	76862	\N	\N	EFO	0	EFO	Fucosidosis	Fucosidosis
Orphanet:217581	Orphanet:349	\N	"" []	Orphanet:349	"" []	220145	\N	\N	EFO	1	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Fucosidosis
Orphanet:79215	Orphanet:349	\N	"" []	Orphanet:349	"" []	220146	\N	\N	EFO	1	EFO	Oligosaccharidosis	Fucosidosis
Orphanet:93448	Orphanet:349	\N	"" []	Orphanet:349	"" []	220147	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Fucosidosis
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:349	"" []	575722	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Fucosidosis
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:349	"" []	575723	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Fucosidosis
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:349	"" []	575724	\N	\N	EFO	2	EFO	Glycoproteinosis	Fucosidosis
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:349	"" []	575725	\N	\N	EFO	2	EFO	Rare genetic bone disease	Fucosidosis
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:349	"" []	1158746	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Fucosidosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:349	"" []	1158747	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fucosidosis
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:349	"" []	1158748	\N	\N	EFO	3	EFO	Lysosomal disease	Fucosidosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:349	"" []	1158749	\N	\N	EFO	3	EFO	genetic disorder	Fucosidosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:349	"" []	1158750	\N	\N	EFO	3	EFO	bone disease	Fucosidosis
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:349	"" []	2042003	\N	\N	EFO	4	EFO	genetic disorder	Fucosidosis
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:349	"" []	2042004	\N	\N	EFO	4	EFO	heart disease	Fucosidosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:349	"" []	2042005	\N	\N	EFO	4	EFO	genetic disorder	Fucosidosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:349	"" []	2042006	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Fucosidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:349	"" []	4398783	\N	\N	EFO	6	EFO	disease	Fucosidosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:349	"" []	2042008	\N	\N	EFO	4	EFO	skeletal system disease	Fucosidosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:349	"" []	3192277	\N	\N	EFO	5	EFO	cardiovascular disease	Fucosidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:349	"" []	3192278	\N	\N	EFO	5	EFO	genetic disorder	Fucosidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:349	"" []	3192279	\N	\N	EFO	5	EFO	metabolic disease	Fucosidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:349	"" []	5060042	\N	\N	EFO	7	EFO	disposition	Fucosidosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:349	"" []	3192281	\N	\N	EFO	5	EFO	disease	Fucosidosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:349	"" []	4398782	\N	\N	EFO	6	EFO	disease	Fucosidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:349	"" []	4398784	\N	\N	EFO	6	EFO	disease	Fucosidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:349	"" []	5877412	\N	\N	EFO	8	EFO	material property	Fucosidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:349	"" []	6470649	\N	\N	EFO	9	EFO	experimental factor	Fucosidosis
Orphanet:35	\N	\N	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	Orphanet:35	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	76863	\N	\N	EFO	0	EFO	Propionic acidemia	Propionic acidemia
Orphanet:79163	Orphanet:35	\N	"" []	Orphanet:35	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	220148	\N	\N	EFO	1	EFO	Classic organic aciduria	Propionic acidemia
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:35	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	575726	\N	\N	EFO	2	EFO	Organic aciduria	Propionic acidemia
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:35	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	1158751	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Propionic acidemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:35	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	2042009	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Propionic acidemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	3192282	\N	\N	EFO	5	EFO	genetic disorder	Propionic acidemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	3192283	\N	\N	EFO	5	EFO	metabolic disease	Propionic acidemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	4398786	\N	\N	EFO	6	EFO	disease	Propionic acidemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	4398787	\N	\N	EFO	6	EFO	disease	Propionic acidemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	5415921	\N	\N	EFO	7	EFO	disposition	Propionic acidemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	6151648	\N	\N	EFO	8	EFO	material property	Propionic acidemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35	"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." []	6633743	\N	\N	EFO	9	EFO	experimental factor	Propionic acidemia
Orphanet:35069	\N	\N	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	76864	\N	\N	EFO	0	EFO	Infantile neuroaxonal dystrophy	Infantile neuroaxonal dystrophy
Orphanet:329303	Orphanet:35069	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	220149	\N	\N	EFO	1	EFO	PLA2G6-associated neurodegeneration	Infantile neuroaxonal dystrophy
Orphanet:98497	Orphanet:35069	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	220150	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Infantile neuroaxonal dystrophy
Orphanet:352306	Orphanet:329303	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	575727	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Infantile neuroaxonal dystrophy
Orphanet:385	Orphanet:329303	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	575728	\N	\N	EFO	2	EFO	Neurodegeneration with brain iron accumulation	Infantile neuroaxonal dystrophy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	575729	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Infantile neuroaxonal dystrophy
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	1158752	\N	\N	EFO	3	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Infantile neuroaxonal dystrophy
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	1158753	\N	\N	EFO	3	EFO	Genetic dementia	Infantile neuroaxonal dystrophy
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	1158754	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Infantile neuroaxonal dystrophy
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	1158755	\N	\N	EFO	3	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Infantile neuroaxonal dystrophy
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	1158756	\N	\N	EFO	3	EFO	Neurometabolic disease	Infantile neuroaxonal dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	4398792	\N	\N	EFO	6	EFO	genetic disorder	Infantile neuroaxonal dystrophy
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	2042010	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Infantile neuroaxonal dystrophy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	2042011	\N	\N	EFO	4	EFO	brain disease	Infantile neuroaxonal dystrophy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	2042012	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Infantile neuroaxonal dystrophy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	2042013	\N	\N	EFO	4	EFO	neurodegenerative disease	Infantile neuroaxonal dystrophy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	2042014	\N	\N	EFO	4	EFO	brain disease	Infantile neuroaxonal dystrophy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	2042015	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Infantile neuroaxonal dystrophy
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	2042016	\N	\N	EFO	4	EFO	neurodegenerative disease	Infantile neuroaxonal dystrophy
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	2042017	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Infantile neuroaxonal dystrophy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	2042018	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Infantile neuroaxonal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	5028443	\N	\N	EFO	7	EFO	disease	Infantile neuroaxonal dystrophy
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	3192284	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Infantile neuroaxonal dystrophy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	3192285	\N	\N	EFO	5	EFO	nervous system disease	Infantile neuroaxonal dystrophy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	3192287	\N	\N	EFO	5	EFO	nervous system disease	Infantile neuroaxonal dystrophy
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	3192288	\N	\N	EFO	5	EFO	movement disorder	Infantile neuroaxonal dystrophy
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	3192289	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Infantile neuroaxonal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	5817725	\N	\N	EFO	8	EFO	disposition	Infantile neuroaxonal dystrophy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	4398788	\N	\N	EFO	6	EFO	genetic disorder	Infantile neuroaxonal dystrophy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	4398789	\N	\N	EFO	6	EFO	metabolic disease	Infantile neuroaxonal dystrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	5415923	\N	\N	EFO	7	EFO	disease	Infantile neuroaxonal dystrophy
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	4398791	\N	\N	EFO	6	EFO	nervous system disease	Infantile neuroaxonal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	6410175	\N	\N	EFO	9	EFO	material property	Infantile neuroaxonal dystrophy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	5415922	\N	\N	EFO	7	EFO	disease	Infantile neuroaxonal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35069	"Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." []	6808008	\N	\N	EFO	10	EFO	experimental factor	Infantile neuroaxonal dystrophy
Orphanet:35078	\N	\N	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	76865	\N	\N	EFO	0	EFO	T-B+ severe combined immunodeficiency due to JAK3 deficiency	T-B+ severe combined immunodeficiency due to JAK3 deficiency
Orphanet:317416	Orphanet:35078	\N	"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	220151	\N	\N	EFO	1	EFO	T-B+ severe combined immunodeficiency	T-B+ severe combined immunodeficiency due to JAK3 deficiency
Orphanet:183660	Orphanet:317416	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	575730	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	T-B+ severe combined immunodeficiency due to JAK3 deficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	1158758	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	T-B+ severe combined immunodeficiency due to JAK3 deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	2042020	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	T-B+ severe combined immunodeficiency due to JAK3 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	3192291	\N	\N	EFO	5	EFO	Primary immunodeficiency	T-B+ severe combined immunodeficiency due to JAK3 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	4398794	\N	\N	EFO	6	EFO	Rare genetic immune disease	T-B+ severe combined immunodeficiency due to JAK3 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	5415925	\N	\N	EFO	7	EFO	genetic disorder	T-B+ severe combined immunodeficiency due to JAK3 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	5415926	\N	\N	EFO	7	EFO	immune system disease	T-B+ severe combined immunodeficiency due to JAK3 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	6151649	\N	\N	EFO	8	EFO	disease	T-B+ severe combined immunodeficiency due to JAK3 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	6151650	\N	\N	EFO	8	EFO	disease	T-B+ severe combined immunodeficiency due to JAK3 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	6633744	\N	\N	EFO	9	EFO	disposition	T-B+ severe combined immunodeficiency due to JAK3 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	6926113	\N	\N	EFO	10	EFO	material property	T-B+ severe combined immunodeficiency due to JAK3 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35078	"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." []	7099280	\N	\N	EFO	11	EFO	experimental factor	T-B+ severe combined immunodeficiency due to JAK3 deficiency
Orphanet:35093	\N	\N	"" []	Orphanet:35093	"" []	76866	\N	\N	EFO	0	EFO	Isolated scaphocephaly	Isolated scaphocephaly
Orphanet:139390	Orphanet:35093	\N	"" []	Orphanet:35093	"" []	220152	\N	\N	EFO	1	EFO	Isolated craniosynostosis	Isolated scaphocephaly
Orphanet:98684	Orphanet:35093	\N	"" []	Orphanet:35093	"" []	220153	\N	\N	EFO	1	EFO	Craniostenosis associated with a strabismus	Isolated scaphocephaly
Orphanet:1531	Orphanet:139390	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:35093	"" []	575731	\N	\N	EFO	2	EFO	Craniosynostosis	Isolated scaphocephaly
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:35093	"" []	575732	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Isolated scaphocephaly
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:35093	"" []	1158759	\N	\N	EFO	3	EFO	Genetic cranial malformation	Isolated scaphocephaly
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:35093	"" []	1158760	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Isolated scaphocephaly
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:35093	"" []	1158761	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Isolated scaphocephaly
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:35093	"" []	2042021	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated scaphocephaly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:35093	"" []	2042022	\N	\N	EFO	4	EFO	Rare genetic bone disease	Isolated scaphocephaly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:35093	"" []	2042023	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Isolated scaphocephaly
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:35093	"" []	2042024	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Isolated scaphocephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35093	"" []	4398797	\N	\N	EFO	6	EFO	genetic disorder	Isolated scaphocephaly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35093	"" []	3192293	\N	\N	EFO	5	EFO	genetic disorder	Isolated scaphocephaly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:35093	"" []	3192294	\N	\N	EFO	5	EFO	bone disease	Isolated scaphocephaly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:35093	"" []	3192295	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated scaphocephaly
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:35093	"" []	3192296	\N	\N	EFO	5	EFO	Rare genetic eye disease	Isolated scaphocephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35093	"" []	5182785	\N	\N	EFO	7	EFO	disease	Isolated scaphocephaly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:35093	"" []	4398796	\N	\N	EFO	6	EFO	skeletal system disease	Isolated scaphocephaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35093	"" []	4398798	\N	\N	EFO	6	EFO	genetic disorder	Isolated scaphocephaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:35093	"" []	4398799	\N	\N	EFO	6	EFO	eye disease	Isolated scaphocephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35093	"" []	5998160	\N	\N	EFO	8	EFO	disposition	Isolated scaphocephaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35093	"" []	5415928	\N	\N	EFO	7	EFO	disease	Isolated scaphocephaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35093	"" []	5415929	\N	\N	EFO	7	EFO	disease	Isolated scaphocephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35093	"" []	6551420	\N	\N	EFO	9	EFO	material property	Isolated scaphocephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35093	"" []	6889428	\N	\N	EFO	10	EFO	experimental factor	Isolated scaphocephaly
Orphanet:35098	\N	\N	"" []	Orphanet:35098	"" []	76867	\N	\N	EFO	0	EFO	Isolated plagiocephaly	Isolated plagiocephaly
Orphanet:139390	Orphanet:35098	\N	"" []	Orphanet:35098	"" []	220154	\N	\N	EFO	1	EFO	Isolated craniosynostosis	Isolated plagiocephaly
Orphanet:98684	Orphanet:35098	\N	"" []	Orphanet:35098	"" []	220155	\N	\N	EFO	1	EFO	Craniostenosis associated with a strabismus	Isolated plagiocephaly
Orphanet:1531	Orphanet:139390	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:35098	"" []	575733	\N	\N	EFO	2	EFO	Craniosynostosis	Isolated plagiocephaly
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:35098	"" []	575734	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Isolated plagiocephaly
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:35098	"" []	1158762	\N	\N	EFO	3	EFO	Genetic cranial malformation	Isolated plagiocephaly
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:35098	"" []	1158763	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Isolated plagiocephaly
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:35098	"" []	1158764	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Isolated plagiocephaly
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:35098	"" []	2042025	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated plagiocephaly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:35098	"" []	2042026	\N	\N	EFO	4	EFO	Rare genetic bone disease	Isolated plagiocephaly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:35098	"" []	2042027	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Isolated plagiocephaly
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:35098	"" []	2042028	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Isolated plagiocephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35098	"" []	4398802	\N	\N	EFO	6	EFO	genetic disorder	Isolated plagiocephaly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35098	"" []	3192298	\N	\N	EFO	5	EFO	genetic disorder	Isolated plagiocephaly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:35098	"" []	3192299	\N	\N	EFO	5	EFO	bone disease	Isolated plagiocephaly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:35098	"" []	3192300	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated plagiocephaly
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:35098	"" []	3192301	\N	\N	EFO	5	EFO	Rare genetic eye disease	Isolated plagiocephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35098	"" []	5182786	\N	\N	EFO	7	EFO	disease	Isolated plagiocephaly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:35098	"" []	4398801	\N	\N	EFO	6	EFO	skeletal system disease	Isolated plagiocephaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35098	"" []	4398803	\N	\N	EFO	6	EFO	genetic disorder	Isolated plagiocephaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:35098	"" []	4398804	\N	\N	EFO	6	EFO	eye disease	Isolated plagiocephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35098	"" []	5998161	\N	\N	EFO	8	EFO	disposition	Isolated plagiocephaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35098	"" []	5415931	\N	\N	EFO	7	EFO	disease	Isolated plagiocephaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35098	"" []	5415932	\N	\N	EFO	7	EFO	disease	Isolated plagiocephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35098	"" []	6551421	\N	\N	EFO	9	EFO	material property	Isolated plagiocephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35098	"" []	6889429	\N	\N	EFO	10	EFO	experimental factor	Isolated plagiocephaly
Orphanet:35099	\N	\N	"" []	Orphanet:35099	"" []	76868	\N	\N	EFO	0	EFO	Isolated brachycephaly	Isolated brachycephaly
Orphanet:139390	Orphanet:35099	\N	"" []	Orphanet:35099	"" []	220156	\N	\N	EFO	1	EFO	Isolated craniosynostosis	Isolated brachycephaly
Orphanet:98684	Orphanet:35099	\N	"" []	Orphanet:35099	"" []	220157	\N	\N	EFO	1	EFO	Craniostenosis associated with a strabismus	Isolated brachycephaly
Orphanet:1531	Orphanet:139390	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:35099	"" []	575735	\N	\N	EFO	2	EFO	Craniosynostosis	Isolated brachycephaly
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:35099	"" []	575736	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Isolated brachycephaly
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:35099	"" []	1158765	\N	\N	EFO	3	EFO	Genetic cranial malformation	Isolated brachycephaly
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:35099	"" []	1158766	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Isolated brachycephaly
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:35099	"" []	1158767	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Isolated brachycephaly
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:35099	"" []	2042029	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated brachycephaly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:35099	"" []	2042030	\N	\N	EFO	4	EFO	Rare genetic bone disease	Isolated brachycephaly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:35099	"" []	2042031	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Isolated brachycephaly
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:35099	"" []	2042032	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Isolated brachycephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35099	"" []	4398807	\N	\N	EFO	6	EFO	genetic disorder	Isolated brachycephaly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35099	"" []	3192303	\N	\N	EFO	5	EFO	genetic disorder	Isolated brachycephaly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:35099	"" []	3192304	\N	\N	EFO	5	EFO	bone disease	Isolated brachycephaly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:35099	"" []	3192305	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated brachycephaly
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:35099	"" []	3192306	\N	\N	EFO	5	EFO	Rare genetic eye disease	Isolated brachycephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35099	"" []	5182787	\N	\N	EFO	7	EFO	disease	Isolated brachycephaly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:35099	"" []	4398806	\N	\N	EFO	6	EFO	skeletal system disease	Isolated brachycephaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35099	"" []	4398808	\N	\N	EFO	6	EFO	genetic disorder	Isolated brachycephaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:35099	"" []	4398809	\N	\N	EFO	6	EFO	eye disease	Isolated brachycephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35099	"" []	5998162	\N	\N	EFO	8	EFO	disposition	Isolated brachycephaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35099	"" []	5415934	\N	\N	EFO	7	EFO	disease	Isolated brachycephaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35099	"" []	5415935	\N	\N	EFO	7	EFO	disease	Isolated brachycephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35099	"" []	6551422	\N	\N	EFO	9	EFO	material property	Isolated brachycephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35099	"" []	6889430	\N	\N	EFO	10	EFO	experimental factor	Isolated brachycephaly
Orphanet:351	\N	\N	"" []	Orphanet:351	"" []	76869	\N	\N	EFO	0	EFO	Galactosialidosis	Galactosialidosis
Orphanet:68385	Orphanet:351	\N	"" []	Orphanet:351	"" []	220158	\N	\N	EFO	1	EFO	Neurometabolic disease	Galactosialidosis
Orphanet:79215	Orphanet:351	\N	"" []	Orphanet:351	"" []	220159	\N	\N	EFO	1	EFO	Oligosaccharidosis	Galactosialidosis
Orphanet:93448	Orphanet:351	\N	"" []	Orphanet:351	"" []	220160	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Galactosialidosis
Orphanet:98666	Orphanet:351	\N	"" []	Orphanet:351	"" []	220161	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Galactosialidosis
Orphanet:98711	Orphanet:351	\N	"" []	Orphanet:351	"" []	220162	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Galactosialidosis
Orphanet:98714	Orphanet:351	\N	"" []	Orphanet:351	"" []	220163	\N	\N	EFO	1	EFO	Metabolic disease with macular cherry-red spot	Galactosialidosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:351	"" []	575737	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Galactosialidosis
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:351	"" []	575738	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Galactosialidosis
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:351	"" []	575739	\N	\N	EFO	2	EFO	Glycoproteinosis	Galactosialidosis
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:351	"" []	575740	\N	\N	EFO	2	EFO	Rare genetic bone disease	Galactosialidosis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:351	"" []	575741	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Galactosialidosis
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:351	"" []	575742	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Galactosialidosis
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:351	"" []	575743	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Galactosialidosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:351	"" []	1158768	\N	\N	EFO	3	EFO	genetic disorder	Galactosialidosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:351	"" []	1158769	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Galactosialidosis
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:351	"" []	1158770	\N	\N	EFO	3	EFO	Lysosomal disease	Galactosialidosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:351	"" []	1158771	\N	\N	EFO	3	EFO	genetic disorder	Galactosialidosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:351	"" []	1158772	\N	\N	EFO	3	EFO	bone disease	Galactosialidosis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:351	"" []	1158773	\N	\N	EFO	3	EFO	Retinal dystrophy	Galactosialidosis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:351	"" []	1158774	\N	\N	EFO	3	EFO	Rare genetic eye disease	Galactosialidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:351	"" []	5060045	\N	\N	EFO	7	EFO	disease	Galactosialidosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:351	"" []	2042034	\N	\N	EFO	4	EFO	genetic disorder	Galactosialidosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:351	"" []	2042035	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Galactosialidosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:351	"" []	2042036	\N	\N	EFO	4	EFO	skeletal system disease	Galactosialidosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:351	"" []	2042037	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Galactosialidosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:351	"" []	4398813	\N	\N	EFO	6	EFO	genetic disorder	Galactosialidosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:351	"" []	4398814	\N	\N	EFO	6	EFO	eye disease	Galactosialidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:351	"" []	5817726	\N	\N	EFO	8	EFO	disposition	Galactosialidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:351	"" []	3192309	\N	\N	EFO	5	EFO	genetic disorder	Galactosialidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:351	"" []	3192310	\N	\N	EFO	5	EFO	metabolic disease	Galactosialidosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:351	"" []	3192311	\N	\N	EFO	5	EFO	disease	Galactosialidosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:351	"" []	3192312	\N	\N	EFO	5	EFO	Rare genetic eye disease	Galactosialidosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:351	"" []	5060046	\N	\N	EFO	7	EFO	disease	Galactosialidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:351	"" []	6410176	\N	\N	EFO	9	EFO	material property	Galactosialidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:351	"" []	4398812	\N	\N	EFO	6	EFO	disease	Galactosialidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:351	"" []	6808009	\N	\N	EFO	10	EFO	experimental factor	Galactosialidosis
Orphanet:35107	\N	\N	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	76870	\N	\N	EFO	0	EFO	Desmosterolosis	Desmosterolosis
Orphanet:79195	Orphanet:35107	\N	"" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	220164	\N	\N	EFO	1	EFO	Sterol biosynthesis disorder	Desmosterolosis
Orphanet:93443	Orphanet:35107	\N	"" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	220165	\N	\N	EFO	1	EFO	Neonatal osteosclerotic dysplasia	Desmosterolosis
Orphanet:139009	Orphanet:79195	\N	"" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	575744	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Desmosterolosis
Orphanet:79226	Orphanet:79195	\N	"" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	575745	\N	\N	EFO	2	EFO	Sterol metabolism disorder	Desmosterolosis
Orphanet:93444	Orphanet:93443	\N	"" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	575746	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Desmosterolosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	1158775	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Desmosterolosis
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	1158776	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Desmosterolosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	1158777	\N	\N	EFO	3	EFO	Primary bone dysplasia	Desmosterolosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	4398819	\N	\N	EFO	6	EFO	genetic disorder	Desmosterolosis
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	2042041	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Desmosterolosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	2042042	\N	\N	EFO	4	EFO	Rare genetic bone disease	Desmosterolosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	2042043	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Desmosterolosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	5060047	\N	\N	EFO	7	EFO	disease	Desmosterolosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	3192315	\N	\N	EFO	5	EFO	genetic disorder	Desmosterolosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	3192316	\N	\N	EFO	5	EFO	metabolic disease	Desmosterolosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	3192317	\N	\N	EFO	5	EFO	genetic disorder	Desmosterolosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	3192318	\N	\N	EFO	5	EFO	bone disease	Desmosterolosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	3192319	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Desmosterolosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	5877415	\N	\N	EFO	8	EFO	disposition	Desmosterolosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	4398817	\N	\N	EFO	6	EFO	disease	Desmosterolosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	4398818	\N	\N	EFO	6	EFO	skeletal system disease	Desmosterolosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	6470652	\N	\N	EFO	9	EFO	material property	Desmosterolosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	5415938	\N	\N	EFO	7	EFO	disease	Desmosterolosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35107	"Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol." []	6848643	\N	\N	EFO	10	EFO	experimental factor	Desmosterolosis
Orphanet:35120	\N	\N	"" []	Orphanet:35120	"" []	76871	\N	\N	EFO	0	EFO	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Orphanet:79193	Orphanet:35120	\N	"ANPM" []	Orphanet:35120	"" []	220166	\N	\N	EFO	1	EFO	Disorder of pyrimidine metabolism	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Orphanet:98374	Orphanet:35120	\N	"" []	Orphanet:35120	"" []	220167	\N	\N	EFO	1	EFO	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Orphanet:79224	Orphanet:79193	\N	"" []	Orphanet:35120	"" []	575747	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Orphanet:98369	Orphanet:98374	\N	"" []	Orphanet:35120	"" []	575748	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:35120	"" []	1158778	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:35120	"" []	1158779	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35120	"" []	2042044	\N	\N	EFO	4	EFO	genetic disorder	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35120	"" []	2042045	\N	\N	EFO	4	EFO	metabolic disease	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:35120	"" []	2042046	\N	\N	EFO	4	EFO	Rare constitutional anemia	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35120	"" []	5415940	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35120	"" []	3192321	\N	\N	EFO	5	EFO	disease	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:35120	"" []	3192322	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35120	"" []	5877416	\N	\N	EFO	8	EFO	disposition	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35120	"" []	4398821	\N	\N	EFO	6	EFO	genetic disorder	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:35120	"" []	4398822	\N	\N	EFO	6	EFO	hematological system disease	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35120	"" []	6470653	\N	\N	EFO	9	EFO	material property	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35120	"" []	5415941	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35120	"" []	6848644	\N	\N	EFO	10	EFO	experimental factor	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Orphanet:35121	\N	\N	"" []	Orphanet:35121	"" []	76872	\N	\N	EFO	0	EFO	Acid phosphatase deficiency	Acid phosphatase deficiency
Orphanet:68366	Orphanet:35121	\N	"" []	Orphanet:35121	"" []	220168	\N	\N	EFO	1	EFO	Lysosomal disease	Acid phosphatase deficiency
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:35121	"" []	575749	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Acid phosphatase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35121	"" []	1158780	\N	\N	EFO	3	EFO	genetic disorder	Acid phosphatase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35121	"" []	1158781	\N	\N	EFO	3	EFO	metabolic disease	Acid phosphatase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35121	"" []	2042047	\N	\N	EFO	4	EFO	disease	Acid phosphatase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35121	"" []	2042048	\N	\N	EFO	4	EFO	disease	Acid phosphatase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35121	"" []	3192323	\N	\N	EFO	5	EFO	disposition	Acid phosphatase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35121	"" []	4398823	\N	\N	EFO	6	EFO	material property	Acid phosphatase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35121	"" []	5415942	\N	\N	EFO	7	EFO	experimental factor	Acid phosphatase deficiency
Orphanet:35122	\N	\N	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	76873	\N	\N	EFO	0	EFO	Congenital sucrase-isomaltase deficiency	Congenital sucrase-isomaltase deficiency
Orphanet:104006	Orphanet:35122	\N	"" []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	220169	\N	\N	EFO	1	EFO	Congenital intestinal disease due to an enzymatic defect	Congenital sucrase-isomaltase deficiency
Orphanet:309001	Orphanet:35122	\N	"" []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	220170	\N	\N	EFO	1	EFO	Disorder of carbohydrate absorption and transport	Congenital sucrase-isomaltase deficiency
Orphanet:165655	Orphanet:104006	\N	"" []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	575750	\N	\N	EFO	2	EFO	Genetic intestinal disease	Congenital sucrase-isomaltase deficiency
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	575751	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Congenital sucrase-isomaltase deficiency
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	1158782	\N	\N	EFO	3	EFO	digestive system disease	Congenital sucrase-isomaltase deficiency
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	1158783	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Congenital sucrase-isomaltase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	1158784	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Congenital sucrase-isomaltase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	2042049	\N	\N	EFO	4	EFO	disease	Congenital sucrase-isomaltase deficiency
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	2042050	\N	\N	EFO	4	EFO	genetic disorder	Congenital sucrase-isomaltase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	2042051	\N	\N	EFO	4	EFO	genetic disorder	Congenital sucrase-isomaltase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	2042052	\N	\N	EFO	4	EFO	metabolic disease	Congenital sucrase-isomaltase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	4398825	\N	\N	EFO	6	EFO	disposition	Congenital sucrase-isomaltase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	3192325	\N	\N	EFO	5	EFO	disease	Congenital sucrase-isomaltase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	3192326	\N	\N	EFO	5	EFO	disease	Congenital sucrase-isomaltase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	5182790	\N	\N	EFO	7	EFO	material property	Congenital sucrase-isomaltase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35122	"a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates)." []	5998165	\N	\N	EFO	8	EFO	experimental factor	Congenital sucrase-isomaltase deficiency
Orphanet:35125	\N	\N	"" []	Orphanet:35125	"" []	76874	\N	\N	EFO	0	EFO	Epidermal nevus syndrome	Epidermal nevus syndrome
Orphanet:98699	Orphanet:35125	\N	"" []	Orphanet:35125	"" []	220171	\N	\N	EFO	1	EFO	Syndromic ichthyosis associated with ocular features	Epidermal nevus syndrome
Orphanet:98697	Orphanet:98699	\N	"" []	Orphanet:35125	"" []	575752	\N	\N	EFO	2	EFO	Genetic keratinization disorder associated with ocular features	Epidermal nevus syndrome
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:35125	"" []	1158785	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Epidermal nevus syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:35125	"" []	2042053	\N	\N	EFO	4	EFO	Rare genetic eye disease	Epidermal nevus syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35125	"" []	3192327	\N	\N	EFO	5	EFO	genetic disorder	Epidermal nevus syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:35125	"" []	3192328	\N	\N	EFO	5	EFO	eye disease	Epidermal nevus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35125	"" []	4398826	\N	\N	EFO	6	EFO	disease	Epidermal nevus syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35125	"" []	4398827	\N	\N	EFO	6	EFO	disease	Epidermal nevus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35125	"" []	5415944	\N	\N	EFO	7	EFO	disposition	Epidermal nevus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35125	"" []	6151656	\N	\N	EFO	8	EFO	material property	Epidermal nevus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35125	"" []	6633748	\N	\N	EFO	9	EFO	experimental factor	Epidermal nevus syndrome
Orphanet:35173	\N	\N	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	76875	\N	\N	EFO	0	EFO	X-linked dominant chondrodysplasia punctata	X-linked dominant chondrodysplasia punctata
Orphanet:176	Orphanet:35173	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	220172	\N	\N	EFO	1	EFO	Non-rhizomelic chondrodysplasia punctata	X-linked dominant chondrodysplasia punctata
Orphanet:281210	Orphanet:35173	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	220173	\N	\N	EFO	1	EFO	X-linked ichthyosis syndrome	X-linked dominant chondrodysplasia punctata
Orphanet:79195	Orphanet:35173	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	220174	\N	\N	EFO	1	EFO	Sterol biosynthesis disorder	X-linked dominant chondrodysplasia punctata
Orphanet:98648	Orphanet:35173	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	220175	\N	\N	EFO	1	EFO	Musculoskeletal disease with cataract	X-linked dominant chondrodysplasia punctata
Orphanet:98699	Orphanet:35173	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	220176	\N	\N	EFO	1	EFO	Syndromic ichthyosis associated with ocular features	X-linked dominant chondrodysplasia punctata
Orphanet:93442	Orphanet:176	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	575753	\N	\N	EFO	2	EFO	Chondrodysplasia punctata	X-linked dominant chondrodysplasia punctata
Orphanet:281085	Orphanet:281210	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	575754	\N	\N	EFO	2	EFO	Inherited ichthyosis syndromic form	X-linked dominant chondrodysplasia punctata
Orphanet:139009	Orphanet:79195	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	575755	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	X-linked dominant chondrodysplasia punctata
Orphanet:79226	Orphanet:79195	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	575756	\N	\N	EFO	2	EFO	Sterol metabolism disorder	X-linked dominant chondrodysplasia punctata
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	575757	\N	\N	EFO	2	EFO	Systemic disease with cataract	X-linked dominant chondrodysplasia punctata
Orphanet:98697	Orphanet:98699	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	575758	\N	\N	EFO	2	EFO	Genetic keratinization disorder associated with ocular features	X-linked dominant chondrodysplasia punctata
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	1158786	\N	\N	EFO	3	EFO	Primary bone dysplasia	X-linked dominant chondrodysplasia punctata
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	1158787	\N	\N	EFO	3	EFO	Inherited ichthyosis	X-linked dominant chondrodysplasia punctata
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	1158788	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked dominant chondrodysplasia punctata
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	1158789	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	X-linked dominant chondrodysplasia punctata
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	1158790	\N	\N	EFO	3	EFO	Syndromic cataract	X-linked dominant chondrodysplasia punctata
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	1158791	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	X-linked dominant chondrodysplasia punctata
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	2042054	\N	\N	EFO	4	EFO	Rare genetic bone disease	X-linked dominant chondrodysplasia punctata
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	2042055	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	X-linked dominant chondrodysplasia punctata
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	2042056	\N	\N	EFO	4	EFO	Genetic epidermal disorder	X-linked dominant chondrodysplasia punctata
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	4398830	\N	\N	EFO	6	EFO	genetic disorder	X-linked dominant chondrodysplasia punctata
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	2042058	\N	\N	EFO	4	EFO	Inborn errors of metabolism	X-linked dominant chondrodysplasia punctata
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	2042059	\N	\N	EFO	4	EFO	Rare cataract	X-linked dominant chondrodysplasia punctata
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	2042060	\N	\N	EFO	4	EFO	Rare genetic eye disease	X-linked dominant chondrodysplasia punctata
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	3192329	\N	\N	EFO	5	EFO	genetic disorder	X-linked dominant chondrodysplasia punctata
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	3192330	\N	\N	EFO	5	EFO	bone disease	X-linked dominant chondrodysplasia punctata
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	3192331	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked dominant chondrodysplasia punctata
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	3192332	\N	\N	EFO	5	EFO	Rare genetic skin disease	X-linked dominant chondrodysplasia punctata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	5877418	\N	\N	EFO	8	EFO	disease	X-linked dominant chondrodysplasia punctata
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	3192334	\N	\N	EFO	5	EFO	genetic disorder	X-linked dominant chondrodysplasia punctata
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	3192335	\N	\N	EFO	5	EFO	metabolic disease	X-linked dominant chondrodysplasia punctata
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	3192336	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	X-linked dominant chondrodysplasia punctata
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	5415948	\N	\N	EFO	7	EFO	genetic disorder	X-linked dominant chondrodysplasia punctata
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	5415949	\N	\N	EFO	7	EFO	eye disease	X-linked dominant chondrodysplasia punctata
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	4398829	\N	\N	EFO	6	EFO	skeletal system disease	X-linked dominant chondrodysplasia punctata
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	4398831	\N	\N	EFO	6	EFO	genetic disorder	X-linked dominant chondrodysplasia punctata
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	4398832	\N	\N	EFO	6	EFO	skin disease	X-linked dominant chondrodysplasia punctata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	6410177	\N	\N	EFO	9	EFO	disposition	X-linked dominant chondrodysplasia punctata
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	4398834	\N	\N	EFO	6	EFO	disease	X-linked dominant chondrodysplasia punctata
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	4398835	\N	\N	EFO	6	EFO	Rare genetic eye disease	X-linked dominant chondrodysplasia punctata
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	5877419	\N	\N	EFO	8	EFO	disease	X-linked dominant chondrodysplasia punctata
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	5415945	\N	\N	EFO	7	EFO	disease	X-linked dominant chondrodysplasia punctata
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	5415946	\N	\N	EFO	7	EFO	disease	X-linked dominant chondrodysplasia punctata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	6808010	\N	\N	EFO	10	EFO	material property	X-linked dominant chondrodysplasia punctata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35173	"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." []	7048717	\N	\N	EFO	11	EFO	experimental factor	X-linked dominant chondrodysplasia punctata
Orphanet:352	\N	\N	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	76876	\N	\N	EFO	0	EFO	Galactosemia	Galactosemia
Orphanet:101940	Orphanet:352	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	220177	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Galactosemia
Orphanet:308467	Orphanet:352	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	220178	\N	\N	EFO	1	EFO	Disorder of galactose metabolism	Galactosemia
Orphanet:93593	Orphanet:352	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	220179	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Galactosemia
Orphanet:98644	Orphanet:352	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	220180	\N	\N	EFO	1	EFO	Cataract associated with a metabolic disease	Galactosemia
Orphanet:98712	Orphanet:352	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	220181	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Galactosemia
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	575759	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Galactosemia
Orphanet:79161	Orphanet:308467	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	575760	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Galactosemia
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	575761	\N	\N	EFO	2	EFO	Rare genetic renal disease	Galactosemia
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	575762	\N	\N	EFO	2	EFO	Systemic disease with cataract	Galactosemia
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	575763	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Galactosemia
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	1158792	\N	\N	EFO	3	EFO	digestive system disease	Galactosemia
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	1158793	\N	\N	EFO	3	EFO	genetic disorder	Galactosemia
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	1158794	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Galactosemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	1158795	\N	\N	EFO	3	EFO	genetic disorder	Galactosemia
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	1158796	\N	\N	EFO	3	EFO	Syndromic cataract	Galactosemia
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	1158797	\N	\N	EFO	3	EFO	Rare genetic eye disease	Galactosemia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	2042061	\N	\N	EFO	4	EFO	disease	Galactosemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	5817727	\N	\N	EFO	8	EFO	disease	Galactosemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	2042063	\N	\N	EFO	4	EFO	genetic disorder	Galactosemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	2042064	\N	\N	EFO	4	EFO	metabolic disease	Galactosemia
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	2042065	\N	\N	EFO	4	EFO	Rare cataract	Galactosemia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	5415951	\N	\N	EFO	7	EFO	genetic disorder	Galactosemia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	5415952	\N	\N	EFO	7	EFO	eye disease	Galactosemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	6378938	\N	\N	EFO	9	EFO	disposition	Galactosemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	3192341	\N	\N	EFO	5	EFO	disease	Galactosemia
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	3192342	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Galactosemia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	5817728	\N	\N	EFO	8	EFO	disease	Galactosemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	6778755	\N	\N	EFO	10	EFO	material property	Galactosemia
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	4398838	\N	\N	EFO	6	EFO	Rare genetic eye disease	Galactosemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	7029951	\N	\N	EFO	11	EFO	experimental factor	Galactosemia
Orphanet:352298	\N	\N	"" []	Orphanet:352298	"" []	76877	\N	\N	EFO	0	EFO	Genetic muscular channelopathy	Genetic muscular channelopathy
Orphanet:183497	Orphanet:352298	\N	"" []	Orphanet:352298	"" []	220182	\N	\N	EFO	1	EFO	Genetic neuromuscular disease	Genetic muscular channelopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:352298	"" []	575764	\N	\N	EFO	2	EFO	muscular disease	Genetic muscular channelopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:352298	"" []	575765	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Genetic muscular channelopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:352298	"" []	1158798	\N	\N	EFO	3	EFO	skeletal system disease	Genetic muscular channelopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352298	"" []	1158799	\N	\N	EFO	3	EFO	genetic disorder	Genetic muscular channelopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352298	"" []	2042068	\N	\N	EFO	4	EFO	disease	Genetic muscular channelopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352298	"" []	2042069	\N	\N	EFO	4	EFO	disease	Genetic muscular channelopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352298	"" []	3192344	\N	\N	EFO	5	EFO	disposition	Genetic muscular channelopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352298	"" []	4398839	\N	\N	EFO	6	EFO	material property	Genetic muscular channelopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352298	"" []	5415953	\N	\N	EFO	7	EFO	experimental factor	Genetic muscular channelopathy
Orphanet:352301	\N	\N	"" []	Orphanet:352301	"" []	76878	\N	\N	EFO	0	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:352301	"" []	220183	\N	\N	EFO	1	EFO	Disorder of lipid metabolism	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:352301	"" []	575766	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352301	"" []	1158800	\N	\N	EFO	3	EFO	genetic disorder	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352301	"" []	1158801	\N	\N	EFO	3	EFO	metabolic disease	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352301	"" []	2042070	\N	\N	EFO	4	EFO	disease	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352301	"" []	2042071	\N	\N	EFO	4	EFO	disease	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352301	"" []	3192345	\N	\N	EFO	5	EFO	disposition	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352301	"" []	4398840	\N	\N	EFO	6	EFO	material property	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352301	"" []	5415954	\N	\N	EFO	7	EFO	experimental factor	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
Orphanet:352306	\N	\N	"" []	Orphanet:352306	"" []	76879	\N	\N	EFO	0	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:352306	"" []	220184	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:352306	"" []	575767	\N	\N	EFO	2	EFO	Disorder of lipid metabolism	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:352306	"" []	1158802	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352306	"" []	2042072	\N	\N	EFO	4	EFO	genetic disorder	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352306	"" []	2042073	\N	\N	EFO	4	EFO	metabolic disease	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352306	"" []	3192346	\N	\N	EFO	5	EFO	disease	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352306	"" []	3192347	\N	\N	EFO	5	EFO	disease	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352306	"" []	4398841	\N	\N	EFO	6	EFO	disposition	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352306	"" []	5415955	\N	\N	EFO	7	EFO	material property	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352306	"" []	6151658	\N	\N	EFO	8	EFO	experimental factor	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
Orphanet:352309	\N	\N	"" []	Orphanet:352309	"" []	76880	\N	\N	EFO	0	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
Orphanet:352301	Orphanet:352309	\N	"" []	Orphanet:352309	"" []	220185	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:352309	"" []	575768	\N	\N	EFO	2	EFO	Disorder of lipid metabolism	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:352309	"" []	1158803	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352309	"" []	2042074	\N	\N	EFO	4	EFO	genetic disorder	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352309	"" []	2042075	\N	\N	EFO	4	EFO	metabolic disease	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352309	"" []	3192348	\N	\N	EFO	5	EFO	disease	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352309	"" []	3192349	\N	\N	EFO	5	EFO	disease	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352309	"" []	4398842	\N	\N	EFO	6	EFO	disposition	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352309	"" []	5415956	\N	\N	EFO	7	EFO	material property	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352309	"" []	6151659	\N	\N	EFO	8	EFO	experimental factor	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
Orphanet:352312	\N	\N	"" []	Orphanet:352312	"" []	76881	\N	\N	EFO	0	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
Orphanet:352301	Orphanet:352312	\N	"" []	Orphanet:352312	"" []	220186	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:352312	"" []	575769	\N	\N	EFO	2	EFO	Disorder of lipid metabolism	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:352312	"" []	1158804	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352312	"" []	2042076	\N	\N	EFO	4	EFO	genetic disorder	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352312	"" []	2042077	\N	\N	EFO	4	EFO	metabolic disease	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352312	"" []	3192350	\N	\N	EFO	5	EFO	disease	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352312	"" []	3192351	\N	\N	EFO	5	EFO	disease	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352312	"" []	4398843	\N	\N	EFO	6	EFO	disposition	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352312	"" []	5415957	\N	\N	EFO	7	EFO	material property	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352312	"" []	6151660	\N	\N	EFO	8	EFO	experimental factor	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
Orphanet:352328	\N	\N	"" []	Orphanet:352328	"" []	76882	\N	\N	EFO	0	EFO	MEGDEL syndrome	MEGDEL syndrome
Orphanet:289902	Orphanet:352328	\N	"" []	Orphanet:352328	"" []	220187	\N	\N	EFO	1	EFO	3-methylglutaconic aciduria	MEGDEL syndrome
Orphanet:309136	Orphanet:352328	\N	"" []	Orphanet:352328	"" []	220188	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	MEGDEL syndrome
Orphanet:352306	Orphanet:352328	\N	"" []	Orphanet:352328	"" []	220189	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	MEGDEL syndrome
Orphanet:68385	Orphanet:352328	\N	"" []	Orphanet:352328	"" []	220190	\N	\N	EFO	1	EFO	Neurometabolic disease	MEGDEL syndrome
Orphanet:90642	Orphanet:352328	\N	"" []	Orphanet:352328	"" []	220191	\N	\N	EFO	1	EFO	Syndromic genetic deafness	MEGDEL syndrome
Orphanet:79163	Orphanet:289902	\N	"" []	Orphanet:352328	"" []	575770	\N	\N	EFO	2	EFO	Classic organic aciduria	MEGDEL syndrome
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:352328	"" []	575771	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	MEGDEL syndrome
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:352328	"" []	575772	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	MEGDEL syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:352328	"" []	575773	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	MEGDEL syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:352328	"" []	575774	\N	\N	EFO	2	EFO	Rare genetic deafness	MEGDEL syndrome
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:352328	"" []	1158805	\N	\N	EFO	3	EFO	Organic aciduria	MEGDEL syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:352328	"" []	1158806	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	MEGDEL syndrome
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:352328	"" []	1158807	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	MEGDEL syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352328	"" []	1158808	\N	\N	EFO	3	EFO	genetic disorder	MEGDEL syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352328	"" []	1158809	\N	\N	EFO	3	EFO	genetic disorder	MEGDEL syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:352328	"" []	1158810	\N	\N	EFO	3	EFO	auditory system disease	MEGDEL syndrome
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:352328	"" []	2042078	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	MEGDEL syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:352328	"" []	2042079	\N	\N	EFO	4	EFO	Mitochondrial disease	MEGDEL syndrome
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:352328	"" []	2042080	\N	\N	EFO	4	EFO	Inborn errors of metabolism	MEGDEL syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352328	"" []	5877420	\N	\N	EFO	8	EFO	disease	MEGDEL syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:352328	"" []	2042082	\N	\N	EFO	4	EFO	sensory system disease	MEGDEL syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:352328	"" []	3192352	\N	\N	EFO	5	EFO	Inborn errors of metabolism	MEGDEL syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:352328	"" []	3192353	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	MEGDEL syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:352328	"" []	3192354	\N	\N	EFO	5	EFO	Disorder of energy metabolism	MEGDEL syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352328	"" []	5415959	\N	\N	EFO	7	EFO	genetic disorder	MEGDEL syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352328	"" []	5415960	\N	\N	EFO	7	EFO	metabolic disease	MEGDEL syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352328	"" []	6378939	\N	\N	EFO	9	EFO	disposition	MEGDEL syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352328	"" []	3192358	\N	\N	EFO	5	EFO	nervous system disease	MEGDEL syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:352328	"" []	4398846	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	MEGDEL syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:352328	"" []	4398847	\N	\N	EFO	6	EFO	Inborn errors of metabolism	MEGDEL syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352328	"" []	5877421	\N	\N	EFO	8	EFO	disease	MEGDEL syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352328	"" []	6778756	\N	\N	EFO	10	EFO	material property	MEGDEL syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352328	"" []	4398851	\N	\N	EFO	6	EFO	disease	MEGDEL syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352328	"" []	5415958	\N	\N	EFO	7	EFO	genetic disorder	MEGDEL syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352328	"" []	7029952	\N	\N	EFO	11	EFO	experimental factor	MEGDEL syndrome
Orphanet:352333	\N	\N	"" []	Orphanet:352333	"" []	76883	\N	\N	EFO	0	EFO	Congenital ichthyosis - intellectual disability - spastic quadriplegia	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:281238	Orphanet:352333	\N	"" []	Orphanet:352333	"" []	220192	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with prominent neurologics signs	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:352306	Orphanet:352333	\N	"" []	Orphanet:352333	"" []	220193	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:68385	Orphanet:352333	\N	"" []	Orphanet:352333	"" []	220194	\N	\N	EFO	1	EFO	Neurometabolic disease	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:281217	Orphanet:281238	\N	"" []	Orphanet:352333	"" []	575775	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:352333	"" []	575776	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:352333	"" []	575777	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:352333	"" []	1158811	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:352333	"" []	1158812	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Congenital ichthyosis - intellectual disability - spastic quadriplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352333	"" []	1158813	\N	\N	EFO	3	EFO	genetic disorder	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:352333	"" []	2042083	\N	\N	EFO	4	EFO	Inherited ichthyosis	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:352333	"" []	2042084	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital ichthyosis - intellectual disability - spastic quadriplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352333	"" []	6151661	\N	\N	EFO	8	EFO	disease	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:352333	"" []	3192359	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Congenital ichthyosis - intellectual disability - spastic quadriplegia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352333	"" []	3192360	\N	\N	EFO	5	EFO	genetic disorder	Congenital ichthyosis - intellectual disability - spastic quadriplegia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352333	"" []	3192361	\N	\N	EFO	5	EFO	metabolic disease	Congenital ichthyosis - intellectual disability - spastic quadriplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352333	"" []	6378940	\N	\N	EFO	9	EFO	disposition	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:352333	"" []	4398852	\N	\N	EFO	6	EFO	Rare genetic skin disease	Congenital ichthyosis - intellectual disability - spastic quadriplegia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352333	"" []	4398854	\N	\N	EFO	6	EFO	disease	Congenital ichthyosis - intellectual disability - spastic quadriplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352333	"" []	6778757	\N	\N	EFO	10	EFO	material property	Congenital ichthyosis - intellectual disability - spastic quadriplegia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352333	"" []	5415962	\N	\N	EFO	7	EFO	genetic disorder	Congenital ichthyosis - intellectual disability - spastic quadriplegia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:352333	"" []	5415963	\N	\N	EFO	7	EFO	skin disease	Congenital ichthyosis - intellectual disability - spastic quadriplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352333	"" []	7029953	\N	\N	EFO	11	EFO	experimental factor	Congenital ichthyosis - intellectual disability - spastic quadriplegia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352333	"" []	6151662	\N	\N	EFO	8	EFO	disease	Congenital ichthyosis - intellectual disability - spastic quadriplegia
Orphanet:352403	\N	\N	"" []	Orphanet:352403	"" []	76884	\N	\N	EFO	0	EFO	Spectrin-associated autosomal recessive cerebellar ataxia	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:1172	Orphanet:352403	\N	"" []	Orphanet:352403	"" []	220195	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:352403	"" []	575778	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:352403	"" []	575779	\N	\N	EFO	2	EFO	Early-onset ataxia with dementia	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:352403	"" []	575780	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:352403	"" []	1158814	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:352403	"" []	1158815	\N	\N	EFO	3	EFO	Ataxia with dementia	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:352403	"" []	1158816	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Spectrin-associated autosomal recessive cerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352403	"" []	5415967	\N	\N	EFO	7	EFO	genetic disorder	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:352403	"" []	2042087	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:352403	"" []	2042088	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Spectrin-associated autosomal recessive cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352403	"" []	5817730	\N	\N	EFO	8	EFO	disease	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:352403	"" []	3192364	\N	\N	EFO	5	EFO	Genetic dementia	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:352403	"" []	3192365	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:352403	"" []	3192366	\N	\N	EFO	5	EFO	Rare genetic eye disease	Spectrin-associated autosomal recessive cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352403	"" []	6410179	\N	\N	EFO	9	EFO	disposition	Spectrin-associated autosomal recessive cerebellar ataxia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:352403	"" []	4398857	\N	\N	EFO	6	EFO	brain disease	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:352403	"" []	4398858	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Spectrin-associated autosomal recessive cerebellar ataxia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:352403	"" []	4398859	\N	\N	EFO	6	EFO	neurodegenerative disease	Spectrin-associated autosomal recessive cerebellar ataxia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:352403	"" []	4398860	\N	\N	EFO	6	EFO	brain disease	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:352403	"" []	4398861	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Spectrin-associated autosomal recessive cerebellar ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352403	"" []	4398862	\N	\N	EFO	6	EFO	genetic disorder	Spectrin-associated autosomal recessive cerebellar ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352403	"" []	4398863	\N	\N	EFO	6	EFO	eye disease	Spectrin-associated autosomal recessive cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352403	"" []	6808012	\N	\N	EFO	10	EFO	material property	Spectrin-associated autosomal recessive cerebellar ataxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352403	"" []	5415966	\N	\N	EFO	7	EFO	nervous system disease	Spectrin-associated autosomal recessive cerebellar ataxia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352403	"" []	5415968	\N	\N	EFO	7	EFO	nervous system disease	Spectrin-associated autosomal recessive cerebellar ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352403	"" []	5415970	\N	\N	EFO	7	EFO	disease	Spectrin-associated autosomal recessive cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352403	"" []	7048718	\N	\N	EFO	11	EFO	experimental factor	Spectrin-associated autosomal recessive cerebellar ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352403	"" []	6151664	\N	\N	EFO	8	EFO	disease	Spectrin-associated autosomal recessive cerebellar ataxia
Orphanet:352447	\N	\N	"" []	Orphanet:352447	"" []	76885	\N	\N	EFO	0	EFO	Progressive external ophthalmoplegia - myopathy - emaciation	Progressive external ophthalmoplegia - myopathy - emaciation
Orphanet:352456	Orphanet:352447	\N	"" []	Orphanet:352447	"" []	220196	\N	\N	EFO	1	EFO	Mitochondrial DNA maintenance syndrome	Progressive external ophthalmoplegia - myopathy - emaciation
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:352447	"" []	575781	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Progressive external ophthalmoplegia - myopathy - emaciation
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:352447	"" []	1158817	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Progressive external ophthalmoplegia - myopathy - emaciation
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:352447	"" []	2042089	\N	\N	EFO	4	EFO	Mitochondrial disease	Progressive external ophthalmoplegia - myopathy - emaciation
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:352447	"" []	3192367	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Progressive external ophthalmoplegia - myopathy - emaciation
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:352447	"" []	3192368	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Progressive external ophthalmoplegia - myopathy - emaciation
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:352447	"" []	4398864	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Progressive external ophthalmoplegia - myopathy - emaciation
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:352447	"" []	4398865	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Progressive external ophthalmoplegia - myopathy - emaciation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352447	"" []	5415971	\N	\N	EFO	7	EFO	genetic disorder	Progressive external ophthalmoplegia - myopathy - emaciation
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352447	"" []	5415972	\N	\N	EFO	7	EFO	genetic disorder	Progressive external ophthalmoplegia - myopathy - emaciation
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352447	"" []	5415973	\N	\N	EFO	7	EFO	metabolic disease	Progressive external ophthalmoplegia - myopathy - emaciation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352447	"" []	6151665	\N	\N	EFO	8	EFO	disease	Progressive external ophthalmoplegia - myopathy - emaciation
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352447	"" []	6151666	\N	\N	EFO	8	EFO	disease	Progressive external ophthalmoplegia - myopathy - emaciation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352447	"" []	6633749	\N	\N	EFO	9	EFO	disposition	Progressive external ophthalmoplegia - myopathy - emaciation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352447	"" []	6926114	\N	\N	EFO	10	EFO	material property	Progressive external ophthalmoplegia - myopathy - emaciation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352447	"" []	7099281	\N	\N	EFO	11	EFO	experimental factor	Progressive external ophthalmoplegia - myopathy - emaciation
Orphanet:352456	\N	\N	"" []	Orphanet:352456	"" []	76886	\N	\N	EFO	0	EFO	Mitochondrial DNA maintenance syndrome	Mitochondrial DNA maintenance syndrome
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:352456	"" []	220197	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial DNA maintenance syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:352456	"" []	575782	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial DNA maintenance syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:352456	"" []	1158818	\N	\N	EFO	3	EFO	Mitochondrial disease	Mitochondrial DNA maintenance syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:352456	"" []	2042090	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Mitochondrial DNA maintenance syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:352456	"" []	2042091	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Mitochondrial DNA maintenance syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:352456	"" []	3192369	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial DNA maintenance syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:352456	"" []	3192370	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Mitochondrial DNA maintenance syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352456	"" []	4398866	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial DNA maintenance syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352456	"" []	4398867	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial DNA maintenance syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352456	"" []	4398868	\N	\N	EFO	6	EFO	metabolic disease	Mitochondrial DNA maintenance syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352456	"" []	5415974	\N	\N	EFO	7	EFO	disease	Mitochondrial DNA maintenance syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352456	"" []	5415975	\N	\N	EFO	7	EFO	disease	Mitochondrial DNA maintenance syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352456	"" []	6151667	\N	\N	EFO	8	EFO	disposition	Mitochondrial DNA maintenance syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352456	"" []	6633750	\N	\N	EFO	9	EFO	material property	Mitochondrial DNA maintenance syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352456	"" []	6926115	\N	\N	EFO	10	EFO	experimental factor	Mitochondrial DNA maintenance syndrome
Orphanet:352470	\N	\N	"" []	Orphanet:352470	"" []	76887	\N	\N	EFO	0	EFO	Mitochondrial DNA deletion syndrome with progressive myopathy	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:206966	Orphanet:352470	\N	"" []	Orphanet:352470	"" []	220198	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:254807	Orphanet:352470	\N	"" []	Orphanet:352470	"" []	220199	\N	\N	EFO	1	EFO	Multiple mitochondrial DNA deletion syndrome	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:352470	"" []	575783	\N	\N	EFO	2	EFO	Muscular lipidosis	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:352456	Orphanet:254807	\N	"" []	Orphanet:352470	"" []	575784	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:352470	"" []	1158819	\N	\N	EFO	3	EFO	Metabolic myopathy	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:352470	"" []	1158820	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:352470	"" []	2042092	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:352470	"" []	2042093	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:352470	"" []	3192371	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:352470	"" []	3192372	\N	\N	EFO	5	EFO	Mitochondrial disease	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:352470	"" []	4398869	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:352470	"" []	4398870	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:352470	"" []	4398871	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Mitochondrial DNA deletion syndrome with progressive myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:352470	"" []	5415976	\N	\N	EFO	7	EFO	muscular disease	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:352470	"" []	5415977	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:352470	"" []	5415978	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:352470	"" []	5415979	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Mitochondrial DNA deletion syndrome with progressive myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:352470	"" []	6151668	\N	\N	EFO	8	EFO	skeletal system disease	Mitochondrial DNA deletion syndrome with progressive myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352470	"" []	6151669	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial DNA deletion syndrome with progressive myopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352470	"" []	6151670	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial DNA deletion syndrome with progressive myopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352470	"" []	6151671	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial DNA deletion syndrome with progressive myopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352470	"" []	6151672	\N	\N	EFO	8	EFO	metabolic disease	Mitochondrial DNA deletion syndrome with progressive myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352470	"" []	6633751	\N	\N	EFO	9	EFO	disease	Mitochondrial DNA deletion syndrome with progressive myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352470	"" []	6633752	\N	\N	EFO	9	EFO	disease	Mitochondrial DNA deletion syndrome with progressive myopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352470	"" []	6633753	\N	\N	EFO	9	EFO	disease	Mitochondrial DNA deletion syndrome with progressive myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352470	"" []	6926116	\N	\N	EFO	10	EFO	disposition	Mitochondrial DNA deletion syndrome with progressive myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352470	"" []	7099282	\N	\N	EFO	11	EFO	material property	Mitochondrial DNA deletion syndrome with progressive myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352470	"" []	7208351	\N	\N	EFO	12	EFO	experimental factor	Mitochondrial DNA deletion syndrome with progressive myopathy
Orphanet:352479	\N	\N	"" []	Orphanet:352479	"" []	76888	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:102015	Orphanet:352479	\N	"" []	Orphanet:352479	"" []	220200	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:207113	Orphanet:352479	\N	"" []	Orphanet:352479	"" []	220201	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:309469	Orphanet:352479	\N	"" []	Orphanet:352479	"" []	220202	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:371064	Orphanet:352479	\N	"" []	Orphanet:352479	"" []	220203	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:352479	"" []	575785	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:352479	"" []	575786	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:352479	"" []	575787	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:352479	"" []	575788	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:352479	"" []	575789	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:352479	"" []	1158821	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:352479	"" []	1158822	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:352479	"" []	1158823	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:352479	"" []	1158824	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:352479	"" []	1158825	\N	\N	EFO	3	EFO	Neurometabolic disease	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:352479	"" []	2042094	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:352479	"" []	2042095	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:352479	"" []	2042096	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:352479	"" []	2042097	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:352479	"" []	2042098	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:352479	"" []	3192373	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:352479	"" []	5415980	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:352479	"" []	5415981	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352479	"" []	3192376	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352479	"" []	3192377	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:352479	"" []	3192378	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352479	"" []	5877426	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:352479	"" []	4398872	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:352479	"" []	5877425	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352479	"" []	6410180	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352479	"" []	4398876	\N	\N	EFO	6	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352479	"" []	6470658	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352479	"" []	6808013	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352479	"" []	7048719	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352479	"" []	7190240	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Orphanet:352487	\N	\N	"" []	Orphanet:352487	"" []	76889	\N	\N	EFO	0	EFO	Digital anomalies - intellectual disability - short stature	Digital anomalies - intellectual disability - short stature
Orphanet:294959	Orphanet:352487	\N	"" []	Orphanet:352487	"" []	220204	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Digital anomalies - intellectual disability - short stature
Orphanet:98464	Orphanet:352487	\N	"" []	Orphanet:352487	"" []	220205	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Digital anomalies - intellectual disability - short stature
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:352487	"" []	575790	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Digital anomalies - intellectual disability - short stature
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:352487	"" []	575791	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Digital anomalies - intellectual disability - short stature
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:352487	"" []	575792	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Digital anomalies - intellectual disability - short stature
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:352487	"" []	1158826	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Digital anomalies - intellectual disability - short stature
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:352487	"" []	1158827	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Digital anomalies - intellectual disability - short stature
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:352487	"" []	1158828	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Digital anomalies - intellectual disability - short stature
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:352487	"" []	2042099	\N	\N	EFO	4	EFO	Rare genetic bone disease	Digital anomalies - intellectual disability - short stature
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:352487	"" []	2042100	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Digital anomalies - intellectual disability - short stature
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:352487	"" []	2042101	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Digital anomalies - intellectual disability - short stature
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:352487	"" []	2042102	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Digital anomalies - intellectual disability - short stature
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352487	"" []	3192380	\N	\N	EFO	5	EFO	genetic disorder	Digital anomalies - intellectual disability - short stature
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:352487	"" []	3192381	\N	\N	EFO	5	EFO	bone disease	Digital anomalies - intellectual disability - short stature
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:352487	"" []	3192382	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Digital anomalies - intellectual disability - short stature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352487	"" []	4398879	\N	\N	EFO	6	EFO	genetic disorder	Digital anomalies - intellectual disability - short stature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352487	"" []	3192384	\N	\N	EFO	5	EFO	genetic disorder	Digital anomalies - intellectual disability - short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352487	"" []	5182796	\N	\N	EFO	7	EFO	disease	Digital anomalies - intellectual disability - short stature
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:352487	"" []	4398878	\N	\N	EFO	6	EFO	skeletal system disease	Digital anomalies - intellectual disability - short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352487	"" []	5998169	\N	\N	EFO	8	EFO	disposition	Digital anomalies - intellectual disability - short stature
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352487	"" []	5415985	\N	\N	EFO	7	EFO	disease	Digital anomalies - intellectual disability - short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352487	"" []	6551426	\N	\N	EFO	9	EFO	material property	Digital anomalies - intellectual disability - short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352487	"" []	6889432	\N	\N	EFO	10	EFO	experimental factor	Digital anomalies - intellectual disability - short stature
Orphanet:352490	\N	\N	"" []	Orphanet:352490	"" []	76890	\N	\N	EFO	0	EFO	Autism spectrum disorder due to AUTS2 deficiency	Autism spectrum disorder due to AUTS2 deficiency
Orphanet:102283	Orphanet:352490	\N	"" []	Orphanet:352490	"" []	220206	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Autism spectrum disorder due to AUTS2 deficiency
Orphanet:180772	Orphanet:352490	\N	"" []	Orphanet:352490	"" []	220207	\N	\N	EFO	1	EFO	Rare disease with autism	Autism spectrum disorder due to AUTS2 deficiency
Orphanet:183763	Orphanet:352490	\N	"" []	Orphanet:352490	"" []	220208	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Autism spectrum disorder due to AUTS2 deficiency
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:352490	"" []	575793	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Autism spectrum disorder due to AUTS2 deficiency
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:352490	"" []	575794	\N	\N	EFO	2	EFO	Rare pervasive developmental disorder	Autism spectrum disorder due to AUTS2 deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:352490	"" []	575795	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Autism spectrum disorder due to AUTS2 deficiency
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:352490	"" []	1158829	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autism spectrum disorder due to AUTS2 deficiency
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:352490	"" []	1158830	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autism spectrum disorder due to AUTS2 deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:352490	"" []	1158831	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autism spectrum disorder due to AUTS2 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352490	"" []	2042103	\N	\N	EFO	4	EFO	genetic disorder	Autism spectrum disorder due to AUTS2 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352490	"" []	2042104	\N	\N	EFO	4	EFO	genetic disorder	Autism spectrum disorder due to AUTS2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352490	"" []	3192385	\N	\N	EFO	5	EFO	disease	Autism spectrum disorder due to AUTS2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352490	"" []	4398880	\N	\N	EFO	6	EFO	disposition	Autism spectrum disorder due to AUTS2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352490	"" []	5415986	\N	\N	EFO	7	EFO	material property	Autism spectrum disorder due to AUTS2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352490	"" []	6151675	\N	\N	EFO	8	EFO	experimental factor	Autism spectrum disorder due to AUTS2 deficiency
Orphanet:352530	\N	\N	"" []	Orphanet:352530	"" []	76891	\N	\N	EFO	0	EFO	Intellectual disability - obesity - brain malformations - facial dysmorphism	Intellectual disability - obesity - brain malformations - facial dysmorphism
Orphanet:183763	Orphanet:352530	\N	"" []	Orphanet:352530	"" []	220209	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - obesity - brain malformations - facial dysmorphism
Orphanet:240371	Orphanet:352530	\N	"" []	Orphanet:352530	"" []	220210	\N	\N	EFO	1	EFO	Syndromic obesity	Intellectual disability - obesity - brain malformations - facial dysmorphism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:352530	"" []	575796	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - obesity - brain malformations - facial dysmorphism
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:352530	"" []	575797	\N	\N	EFO	2	EFO	Genetic obesity	Intellectual disability - obesity - brain malformations - facial dysmorphism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:352530	"" []	1158832	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - obesity - brain malformations - facial dysmorphism
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:352530	"" []	1158833	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Intellectual disability - obesity - brain malformations - facial dysmorphism
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:352530	"" []	1158834	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Intellectual disability - obesity - brain malformations - facial dysmorphism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352530	"" []	2042105	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - obesity - brain malformations - facial dysmorphism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352530	"" []	2042106	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - obesity - brain malformations - facial dysmorphism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:352530	"" []	2042107	\N	\N	EFO	4	EFO	endocrine system disease	Intellectual disability - obesity - brain malformations - facial dysmorphism
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:352530	"" []	2042108	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability - obesity - brain malformations - facial dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352530	"" []	4398882	\N	\N	EFO	6	EFO	disease	Intellectual disability - obesity - brain malformations - facial dysmorphism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352530	"" []	3192387	\N	\N	EFO	5	EFO	disease	Intellectual disability - obesity - brain malformations - facial dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352530	"" []	3192388	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability - obesity - brain malformations - facial dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352530	"" []	5182797	\N	\N	EFO	7	EFO	disposition	Intellectual disability - obesity - brain malformations - facial dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352530	"" []	5998170	\N	\N	EFO	8	EFO	material property	Intellectual disability - obesity - brain malformations - facial dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352530	"" []	6551427	\N	\N	EFO	9	EFO	experimental factor	Intellectual disability - obesity - brain malformations - facial dysmorphism
Orphanet:352563	\N	\N	"" []	Orphanet:352563	"" []	76892	\N	\N	EFO	0	EFO	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Orphanet:217587	Orphanet:352563	\N	"" []	Orphanet:352563	"" []	220211	\N	\N	EFO	1	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Orphanet:35696	Orphanet:352563	\N	"" []	Orphanet:352563	"" []	220212	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:352563	"" []	575798	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:352563	"" []	575799	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:352563	"" []	1158835	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:352563	"" []	1158836	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352563	"" []	2042109	\N	\N	EFO	4	EFO	genetic disorder	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:352563	"" []	2042110	\N	\N	EFO	4	EFO	heart disease	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:352563	"" []	2042111	\N	\N	EFO	4	EFO	Mitochondrial disease	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352563	"" []	6151678	\N	\N	EFO	8	EFO	disease	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:352563	"" []	3192390	\N	\N	EFO	5	EFO	cardiovascular disease	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:352563	"" []	3192391	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:352563	"" []	3192392	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352563	"" []	6410181	\N	\N	EFO	9	EFO	disposition	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352563	"" []	4398884	\N	\N	EFO	6	EFO	disease	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:352563	"" []	4398885	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:352563	"" []	4398886	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352563	"" []	6808014	\N	\N	EFO	10	EFO	material property	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352563	"" []	5415990	\N	\N	EFO	7	EFO	genetic disorder	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352563	"" []	5415991	\N	\N	EFO	7	EFO	genetic disorder	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352563	"" []	5415992	\N	\N	EFO	7	EFO	metabolic disease	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352563	"" []	7048720	\N	\N	EFO	11	EFO	experimental factor	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352563	"" []	6151679	\N	\N	EFO	8	EFO	disease	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Orphanet:352577	\N	\N	"" []	Orphanet:352577	"" []	76893	\N	\N	EFO	0	EFO	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
Orphanet:102283	Orphanet:352577	\N	"" []	Orphanet:352577	"" []	220213	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
Orphanet:183763	Orphanet:352577	\N	"" []	Orphanet:352577	"" []	220214	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:352577	"" []	575800	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:352577	"" []	575801	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:352577	"" []	1158837	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:352577	"" []	1158838	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352577	"" []	2042112	\N	\N	EFO	4	EFO	genetic disorder	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352577	"" []	2042113	\N	\N	EFO	4	EFO	genetic disorder	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352577	"" []	3192393	\N	\N	EFO	5	EFO	disease	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352577	"" []	4398887	\N	\N	EFO	6	EFO	disposition	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352577	"" []	5415993	\N	\N	EFO	7	EFO	material property	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352577	"" []	6151680	\N	\N	EFO	8	EFO	experimental factor	Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
Orphanet:352582	\N	\N	"" []	Orphanet:352582	"" []	76894	\N	\N	EFO	0	EFO	Familial infantile myoclonic epilepsy	Familial infantile myoclonic epilepsy
Orphanet:166472	Orphanet:352582	\N	"" []	Orphanet:352582	"" []	220215	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Familial infantile myoclonic epilepsy
Orphanet:98258	Orphanet:352582	\N	"" []	Orphanet:352582	"" []	220216	\N	\N	EFO	1	EFO	Infantile epilepsy syndrome	Familial infantile myoclonic epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:352582	"" []	575802	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Familial infantile myoclonic epilepsy
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:352582	"" []	575803	\N	\N	EFO	2	EFO	Epilepsy syndrome	Familial infantile myoclonic epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:352582	"" []	2042115	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Familial infantile myoclonic epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:352582	"" []	1158840	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Familial infantile myoclonic epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352582	"" []	3000331	\N	\N	EFO	5	EFO	genetic disorder	Familial infantile myoclonic epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352582	"" []	4133963	\N	\N	EFO	6	EFO	disease	Familial infantile myoclonic epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352582	"" []	5182798	\N	\N	EFO	7	EFO	disposition	Familial infantile myoclonic epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352582	"" []	5998172	\N	\N	EFO	8	EFO	material property	Familial infantile myoclonic epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352582	"" []	6551429	\N	\N	EFO	9	EFO	experimental factor	Familial infantile myoclonic epilepsy
Orphanet:352587	\N	\N	"" []	Orphanet:352587	"" []	76895	\N	\N	EFO	0	EFO	Focal epilepsy - intellectual disability - cerebro-cerebellar malformation	Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
Orphanet:166472	Orphanet:352587	\N	"" []	Orphanet:352587	"" []	220217	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
Orphanet:166478	Orphanet:352587	\N	"" []	Orphanet:352587	"" []	220218	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:352587	"" []	575804	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:352587	"" []	575805	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:352587	"" []	1158841	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352587	"" []	2042116	\N	\N	EFO	4	EFO	genetic disorder	Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352587	"" []	3192395	\N	\N	EFO	5	EFO	disease	Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352587	"" []	4398889	\N	\N	EFO	6	EFO	disposition	Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352587	"" []	5415995	\N	\N	EFO	7	EFO	material property	Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352587	"" []	6151682	\N	\N	EFO	8	EFO	experimental factor	Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
Orphanet:352596	\N	\N	"" []	Orphanet:352596	"" []	76896	\N	\N	EFO	0	EFO	Progressive myoclonic epilepsy with dystonia	Progressive myoclonic epilepsy with dystonia
Orphanet:166472	Orphanet:352596	\N	"" []	Orphanet:352596	"" []	220219	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Progressive myoclonic epilepsy with dystonia
Orphanet:98258	Orphanet:352596	\N	"" []	Orphanet:352596	"" []	220220	\N	\N	EFO	1	EFO	Infantile epilepsy syndrome	Progressive myoclonic epilepsy with dystonia
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:352596	"" []	575806	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Progressive myoclonic epilepsy with dystonia
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:352596	"" []	575807	\N	\N	EFO	2	EFO	Epilepsy syndrome	Progressive myoclonic epilepsy with dystonia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:352596	"" []	2042118	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Progressive myoclonic epilepsy with dystonia
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:352596	"" []	1158843	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Progressive myoclonic epilepsy with dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352596	"" []	3000332	\N	\N	EFO	5	EFO	genetic disorder	Progressive myoclonic epilepsy with dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352596	"" []	4133964	\N	\N	EFO	6	EFO	disease	Progressive myoclonic epilepsy with dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352596	"" []	5182799	\N	\N	EFO	7	EFO	disposition	Progressive myoclonic epilepsy with dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352596	"" []	5998173	\N	\N	EFO	8	EFO	material property	Progressive myoclonic epilepsy with dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352596	"" []	6551430	\N	\N	EFO	9	EFO	experimental factor	Progressive myoclonic epilepsy with dystonia
Orphanet:352629	\N	\N	"" []	Orphanet:352629	"" []	76897	\N	\N	EFO	0	EFO	16q24.1 microdeletion syndrome	16q24.1 microdeletion syndrome
Orphanet:262128	Orphanet:352629	\N	"" []	Orphanet:352629	"" []	220221	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 16	16q24.1 microdeletion syndrome
Orphanet:264992	Orphanet:352629	\N	"" []	Orphanet:352629	"" []	220222	\N	\N	EFO	1	EFO	Genetic interstitial lung disease	16q24.1 microdeletion syndrome
Orphanet:261826	Orphanet:262128	\N	"" []	Orphanet:352629	"" []	575808	\N	\N	EFO	2	EFO	Partial deletion of chromosome 16	16q24.1 microdeletion syndrome
Orphanet:156610	Orphanet:264992	\N	"" []	Orphanet:352629	"" []	575809	\N	\N	EFO	2	EFO	Rare genetic respiratory disease	16q24.1 microdeletion syndrome
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:352629	"" []	1158844	\N	\N	EFO	3	EFO	Partial autosomal monosomy	16q24.1 microdeletion syndrome
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352629	"" []	1158845	\N	\N	EFO	3	EFO	genetic disorder	16q24.1 microdeletion syndrome
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:352629	"" []	1158846	\N	\N	EFO	3	EFO	respiratory system disease	16q24.1 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:352629	"" []	2042119	\N	\N	EFO	4	EFO	Autosomal monosomy	16q24.1 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352629	"" []	6151684	\N	\N	EFO	8	EFO	disease	16q24.1 microdeletion syndrome
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352629	"" []	2042121	\N	\N	EFO	4	EFO	disease	16q24.1 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:352629	"" []	3192397	\N	\N	EFO	5	EFO	Autosomal anomaly	16q24.1 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352629	"" []	6378941	\N	\N	EFO	9	EFO	disposition	16q24.1 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:352629	"" []	4398891	\N	\N	EFO	6	EFO	Chromosomal anomaly	16q24.1 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352629	"" []	6778758	\N	\N	EFO	10	EFO	material property	16q24.1 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352629	"" []	5415997	\N	\N	EFO	7	EFO	genetic disorder	16q24.1 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352629	"" []	7029954	\N	\N	EFO	11	EFO	experimental factor	16q24.1 microdeletion syndrome
Orphanet:352636	\N	\N	"" []	Orphanet:352636	"" []	76898	\N	\N	EFO	0	EFO	Phalangeal microgeodic syndrome	Phalangeal microgeodic syndrome
Orphanet:93449	Orphanet:352636	\N	"" []	Orphanet:352636	"" []	220223	\N	\N	EFO	1	EFO	Primary osteolysis	Phalangeal microgeodic syndrome
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:352636	"" []	575810	\N	\N	EFO	2	EFO	Primary bone dysplasia	Phalangeal microgeodic syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:352636	"" []	1158847	\N	\N	EFO	3	EFO	Rare genetic bone disease	Phalangeal microgeodic syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:352636	"" []	1158848	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Phalangeal microgeodic syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352636	"" []	2042122	\N	\N	EFO	4	EFO	genetic disorder	Phalangeal microgeodic syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:352636	"" []	2042123	\N	\N	EFO	4	EFO	bone disease	Phalangeal microgeodic syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:352636	"" []	2042124	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Phalangeal microgeodic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352636	"" []	4398895	\N	\N	EFO	6	EFO	disease	Phalangeal microgeodic syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:352636	"" []	3192400	\N	\N	EFO	5	EFO	skeletal system disease	Phalangeal microgeodic syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352636	"" []	3192401	\N	\N	EFO	5	EFO	genetic disorder	Phalangeal microgeodic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352636	"" []	5182800	\N	\N	EFO	7	EFO	disposition	Phalangeal microgeodic syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352636	"" []	4398894	\N	\N	EFO	6	EFO	disease	Phalangeal microgeodic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352636	"" []	5998174	\N	\N	EFO	8	EFO	material property	Phalangeal microgeodic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352636	"" []	6551431	\N	\N	EFO	9	EFO	experimental factor	Phalangeal microgeodic syndrome
Orphanet:352641	\N	\N	"" []	Orphanet:352641	"" []	76899	\N	\N	EFO	0	EFO	Autosomal recessive cerebellar ataxia with late-onset spasticity	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:79225	Orphanet:352641	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:352641	"" []	220224	\N	\N	EFO	1	EFO	Sphingolipidosis	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:98096	Orphanet:352641	\N	"" []	Orphanet:352641	"" []	220225	\N	\N	EFO	1	EFO	Autosomal recessive metabolic cerebellar ataxia	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:352641	"" []	575811	\N	\N	EFO	2	EFO	Lysosomal disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:1172	Orphanet:98096	\N	"" []	Orphanet:352641	"" []	575812	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:352641	"" []	1158849	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:352641	"" []	1158850	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:352641	"" []	1158851	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:352641	"" []	1158852	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352641	"" []	2042125	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352641	"" []	2042126	\N	\N	EFO	4	EFO	metabolic disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:352641	"" []	2042127	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:352641	"" []	2042128	\N	\N	EFO	4	EFO	Ataxia with dementia	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:352641	"" []	2042129	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352641	"" []	6410183	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352641	"" []	3192403	\N	\N	EFO	5	EFO	disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352641	"" []	6151688	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:352641	"" []	3192405	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:352641	"" []	3192406	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352641	"" []	6778759	\N	\N	EFO	10	EFO	disposition	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:352641	"" []	4398898	\N	\N	EFO	6	EFO	Genetic dementia	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:352641	"" []	4398899	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:352641	"" []	4398900	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352641	"" []	7029955	\N	\N	EFO	11	EFO	material property	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:352641	"" []	5416001	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:352641	"" []	5416002	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:352641	"" []	5416003	\N	\N	EFO	7	EFO	neurodegenerative disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:352641	"" []	5416004	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:352641	"" []	5416005	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352641	"" []	5416006	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352641	"" []	5416007	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352641	"" []	7181801	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352641	"" []	6151687	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352641	"" []	6151689	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352641	"" []	6151691	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352641	"" []	6633756	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia with late-onset spasticity
Orphanet:352649	\N	\N	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	76900	\N	\N	EFO	0	EFO	Brain dopamine-serotonin vesicular transport disease	Brain dopamine-serotonin vesicular transport disease
Orphanet:391711	Orphanet:352649	\N	"" []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	220226	\N	\N	EFO	1	EFO	Persistent combined dystonia	Brain dopamine-serotonin vesicular transport disease
Orphanet:79169	Orphanet:352649	\N	"" []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	220227	\N	\N	EFO	1	EFO	Disorder of neurotransmitter metabolism and transport	Brain dopamine-serotonin vesicular transport disease
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	575813	\N	\N	EFO	2	EFO	Combined dystonia	Brain dopamine-serotonin vesicular transport disease
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	575814	\N	\N	EFO	2	EFO	Disorder of biogenic amine metabolism and transport	Brain dopamine-serotonin vesicular transport disease
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	1158853	\N	\N	EFO	3	EFO	Rare genetic dystonia	Brain dopamine-serotonin vesicular transport disease
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	1158854	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Brain dopamine-serotonin vesicular transport disease
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	2042130	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Brain dopamine-serotonin vesicular transport disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	2042131	\N	\N	EFO	4	EFO	genetic disorder	Brain dopamine-serotonin vesicular transport disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	2042132	\N	\N	EFO	4	EFO	metabolic disease	Brain dopamine-serotonin vesicular transport disease
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	3192407	\N	\N	EFO	5	EFO	movement disorder	Brain dopamine-serotonin vesicular transport disease
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	3192408	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Brain dopamine-serotonin vesicular transport disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	5416009	\N	\N	EFO	7	EFO	disease	Brain dopamine-serotonin vesicular transport disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	3192410	\N	\N	EFO	5	EFO	disease	Brain dopamine-serotonin vesicular transport disease
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	4398901	\N	\N	EFO	6	EFO	nervous system disease	Brain dopamine-serotonin vesicular transport disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	4398902	\N	\N	EFO	6	EFO	genetic disorder	Brain dopamine-serotonin vesicular transport disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	5877427	\N	\N	EFO	8	EFO	disposition	Brain dopamine-serotonin vesicular transport disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	5416008	\N	\N	EFO	7	EFO	disease	Brain dopamine-serotonin vesicular transport disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	6470659	\N	\N	EFO	9	EFO	material property	Brain dopamine-serotonin vesicular transport disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352649	"Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." []	6848647	\N	\N	EFO	10	EFO	experimental factor	Brain dopamine-serotonin vesicular transport disease
Orphanet:352654	\N	\N	"" []	Orphanet:352654	"" []	76901	\N	\N	EFO	0	EFO	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Orphanet:183500	Orphanet:352654	\N	"" []	Orphanet:352654	"" []	220228	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Orphanet:98677	Orphanet:352654	\N	"" []	Orphanet:352654	"" []	220229	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:352654	"" []	575815	\N	\N	EFO	2	EFO	neurodegenerative disease	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:352654	"" []	575816	\N	\N	EFO	2	EFO	brain disease	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:352654	"" []	575817	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:352654	"" []	575818	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352654	"" []	1158855	\N	\N	EFO	3	EFO	nervous system disease	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352654	"" []	1158856	\N	\N	EFO	3	EFO	nervous system disease	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352654	"" []	1158857	\N	\N	EFO	3	EFO	genetic disorder	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:352654	"" []	1158858	\N	\N	EFO	3	EFO	Genetic optic atrophy	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352654	"" []	2042133	\N	\N	EFO	4	EFO	disease	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352654	"" []	5416012	\N	\N	EFO	7	EFO	disease	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:352654	"" []	2042135	\N	\N	EFO	4	EFO	Optic neuropathy	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352654	"" []	5817731	\N	\N	EFO	8	EFO	disposition	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:352654	"" []	3192412	\N	\N	EFO	5	EFO	Rare genetic eye disease	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352654	"" []	6410184	\N	\N	EFO	9	EFO	material property	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352654	"" []	4398905	\N	\N	EFO	6	EFO	genetic disorder	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352654	"" []	4398906	\N	\N	EFO	6	EFO	eye disease	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352654	"" []	6808016	\N	\N	EFO	10	EFO	experimental factor	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352654	"" []	5416013	\N	\N	EFO	7	EFO	disease	Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Orphanet:352657	\N	\N	"" []	Orphanet:352657	"" []	76902	\N	\N	EFO	0	EFO	Hereditary benign intraepithelial dyskeratosis	Hereditary benign intraepithelial dyskeratosis
Orphanet:98625	Orphanet:352657	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:352657	"" []	220230	\N	\N	EFO	1	EFO	Superficial corneal dystrophy	Hereditary benign intraepithelial dyskeratosis
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:352657	"" []	575819	\N	\N	EFO	2	EFO	Corneal dystrophy	Hereditary benign intraepithelial dyskeratosis
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:352657	"" []	1158859	\N	\N	EFO	3	EFO	Rare genetic eye disease	Hereditary benign intraepithelial dyskeratosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352657	"" []	2042136	\N	\N	EFO	4	EFO	genetic disorder	Hereditary benign intraepithelial dyskeratosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352657	"" []	2042137	\N	\N	EFO	4	EFO	eye disease	Hereditary benign intraepithelial dyskeratosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352657	"" []	3192413	\N	\N	EFO	5	EFO	disease	Hereditary benign intraepithelial dyskeratosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352657	"" []	3192414	\N	\N	EFO	5	EFO	disease	Hereditary benign intraepithelial dyskeratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352657	"" []	4398907	\N	\N	EFO	6	EFO	disposition	Hereditary benign intraepithelial dyskeratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352657	"" []	5416014	\N	\N	EFO	7	EFO	material property	Hereditary benign intraepithelial dyskeratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352657	"" []	6151693	\N	\N	EFO	8	EFO	experimental factor	Hereditary benign intraepithelial dyskeratosis
Orphanet:352662	\N	\N	"" []	Orphanet:352662	"" []	76903	\N	\N	EFO	0	EFO	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Orphanet:98352	Orphanet:352662	\N	"" []	Orphanet:352662	"" []	220231	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Orphanet:98625	Orphanet:352662	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:352662	"" []	220232	\N	\N	EFO	1	EFO	Superficial corneal dystrophy	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:352662	"" []	575820	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:352662	"" []	575821	\N	\N	EFO	2	EFO	Corneal dystrophy	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:352662	"" []	1158860	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:352662	"" []	1158861	\N	\N	EFO	3	EFO	Rare genetic eye disease	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:352662	"" []	2042138	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352662	"" []	2042139	\N	\N	EFO	4	EFO	genetic disorder	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352662	"" []	2042140	\N	\N	EFO	4	EFO	eye disease	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:352662	"" []	3192415	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352662	"" []	6151694	\N	\N	EFO	8	EFO	disease	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352662	"" []	3192417	\N	\N	EFO	5	EFO	disease	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:352662	"" []	4398908	\N	\N	EFO	6	EFO	Rare genetic skin disease	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352662	"" []	6410185	\N	\N	EFO	9	EFO	disposition	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352662	"" []	5416015	\N	\N	EFO	7	EFO	genetic disorder	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:352662	"" []	5416016	\N	\N	EFO	7	EFO	skin disease	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352662	"" []	6808017	\N	\N	EFO	10	EFO	material property	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352662	"" []	6151695	\N	\N	EFO	8	EFO	disease	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352662	"" []	7048722	\N	\N	EFO	11	EFO	experimental factor	Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Orphanet:352665	\N	\N	"" []	Orphanet:352665	"" []	76904	\N	\N	EFO	0	EFO	9q21 microdeletion syndrome	9q21 microdeletion syndrome
Orphanet:183763	Orphanet:352665	\N	"" []	Orphanet:352665	"" []	220233	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	9q21 microdeletion syndrome
Orphanet:262074	Orphanet:352665	\N	"" []	Orphanet:352665	"" []	220234	\N	\N	EFO	1	EFO	Partial monosomy of the long arm of chromosome 9	9q21 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:352665	"" []	575822	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	9q21 microdeletion syndrome
Orphanet:261806	Orphanet:262074	\N	"" []	Orphanet:352665	"" []	575823	\N	\N	EFO	2	EFO	Partial deletion of chromosome 9	9q21 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:352665	"" []	1158862	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	9q21 microdeletion syndrome
Orphanet:98142	Orphanet:261806	\N	"" []	Orphanet:352665	"" []	1158863	\N	\N	EFO	3	EFO	Partial autosomal monosomy	9q21 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352665	"" []	2042141	\N	\N	EFO	4	EFO	genetic disorder	9q21 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:352665	"" []	2042142	\N	\N	EFO	4	EFO	Autosomal monosomy	9q21 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352665	"" []	6151698	\N	\N	EFO	8	EFO	disease	9q21 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:352665	"" []	3192419	\N	\N	EFO	5	EFO	Autosomal anomaly	9q21 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352665	"" []	6410186	\N	\N	EFO	9	EFO	disposition	9q21 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:352665	"" []	4398911	\N	\N	EFO	6	EFO	Chromosomal anomaly	9q21 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352665	"" []	6808018	\N	\N	EFO	10	EFO	material property	9q21 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352665	"" []	5416019	\N	\N	EFO	7	EFO	genetic disorder	9q21 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352665	"" []	7048723	\N	\N	EFO	11	EFO	experimental factor	9q21 microdeletion syndrome
Orphanet:352670	\N	\N	"" []	Orphanet:352670	"" []	76905	\N	\N	EFO	0	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Orphanet:90114	Orphanet:352670	\N	"" []	Orphanet:352670	"" []	220235	\N	\N	EFO	1	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Orphanet:140450	Orphanet:90114	\N	"" []	Orphanet:352670	"" []	575824	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Orphanet:166	Orphanet:90114	\N	"" []	Orphanet:352670	"" []	575825	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:352670	"" []	1158864	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:352670	"" []	1158865	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:352670	"" []	1158866	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:352670	"" []	2042143	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:352670	"" []	2042144	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352670	"" []	3192420	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352670	"" []	3192421	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352670	"" []	4398912	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352670	"" []	4398913	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352670	"" []	5416020	\N	\N	EFO	7	EFO	disposition	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352670	"" []	6151699	\N	\N	EFO	8	EFO	material property	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352670	"" []	6633757	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Orphanet:352675	\N	\N	"" []	Orphanet:352675	"" []	76906	\N	\N	EFO	0	EFO	X-linked Charcot-Marie-Tooth disease type 6	X-linked Charcot-Marie-Tooth disease type 6
Orphanet:64747	Orphanet:352675	\N	"" []	Orphanet:352675	"" []	220236	\N	\N	EFO	1	EFO	X-linked Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease type 6
Orphanet:166	Orphanet:64747	\N	"" []	Orphanet:352675	"" []	575826	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease type 6
Orphanet:90642	Orphanet:64747	\N	"" []	Orphanet:352675	"" []	575827	\N	\N	EFO	2	EFO	Syndromic genetic deafness	X-linked Charcot-Marie-Tooth disease type 6
Orphanet:98464	Orphanet:64747	\N	"" []	Orphanet:352675	"" []	575828	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked Charcot-Marie-Tooth disease type 6
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:352675	"" []	1158867	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	X-linked Charcot-Marie-Tooth disease type 6
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:352675	"" []	1158868	\N	\N	EFO	3	EFO	Rare genetic deafness	X-linked Charcot-Marie-Tooth disease type 6
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:352675	"" []	1158869	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked Charcot-Marie-Tooth disease type 6
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:352675	"" []	2042145	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease type 6
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352675	"" []	2042146	\N	\N	EFO	4	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 6
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:352675	"" []	2042147	\N	\N	EFO	4	EFO	auditory system disease	X-linked Charcot-Marie-Tooth disease type 6
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:352675	"" []	2042148	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked Charcot-Marie-Tooth disease type 6
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352675	"" []	4398917	\N	\N	EFO	6	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352675	"" []	5182802	\N	\N	EFO	7	EFO	disease	X-linked Charcot-Marie-Tooth disease type 6
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:352675	"" []	3192424	\N	\N	EFO	5	EFO	sensory system disease	X-linked Charcot-Marie-Tooth disease type 6
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:352675	"" []	3192425	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease type 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352675	"" []	5877428	\N	\N	EFO	8	EFO	disposition	X-linked Charcot-Marie-Tooth disease type 6
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352675	"" []	4398916	\N	\N	EFO	6	EFO	nervous system disease	X-linked Charcot-Marie-Tooth disease type 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352675	"" []	6470660	\N	\N	EFO	9	EFO	material property	X-linked Charcot-Marie-Tooth disease type 6
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352675	"" []	5416022	\N	\N	EFO	7	EFO	disease	X-linked Charcot-Marie-Tooth disease type 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352675	"" []	6848648	\N	\N	EFO	10	EFO	experimental factor	X-linked Charcot-Marie-Tooth disease type 6
Orphanet:352682	\N	\N	"" []	Orphanet:352682	"" []	76907	\N	\N	EFO	0	EFO	Cobblestone lissencephaly without muscular or ocular involvement	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:51577	Orphanet:352682	\N	"" []	Orphanet:352682	"" []	220237	\N	\N	EFO	1	EFO	Cobblestone lissencephaly	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:48471	Orphanet:51577	\N	"" []	Orphanet:352682	"" []	575829	\N	\N	EFO	2	EFO	Lissencephaly	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:352682	"" []	1158870	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:352682	"" []	1158871	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:352682	"" []	1158872	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:352682	"" []	2042149	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:352682	"" []	2042150	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:352682	"" []	2042151	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:352682	"" []	3192426	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:352682	"" []	3192427	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:352682	"" []	3192428	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:352682	"" []	3192429	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Cobblestone lissencephaly without muscular or ocular involvement
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352682	"" []	4398918	\N	\N	EFO	6	EFO	genetic disorder	Cobblestone lissencephaly without muscular or ocular involvement
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352682	"" []	4398919	\N	\N	EFO	6	EFO	genetic disorder	Cobblestone lissencephaly without muscular or ocular involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352682	"" []	5416023	\N	\N	EFO	7	EFO	disease	Cobblestone lissencephaly without muscular or ocular involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352682	"" []	6151701	\N	\N	EFO	8	EFO	disposition	Cobblestone lissencephaly without muscular or ocular involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352682	"" []	6633758	\N	\N	EFO	9	EFO	material property	Cobblestone lissencephaly without muscular or ocular involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352682	"" []	6926117	\N	\N	EFO	10	EFO	experimental factor	Cobblestone lissencephaly without muscular or ocular involvement
Orphanet:352687	\N	\N	"" []	Orphanet:352687	"" []	76908	\N	\N	EFO	0	EFO	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:370953	Orphanet:352687	\N	"" []	Orphanet:352687	"" []	220238	\N	\N	EFO	1	EFO	Congenital muscular dystrophy due to dystroglycanopathy	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:51577	Orphanet:352687	\N	"" []	Orphanet:352687	"" []	220239	\N	\N	EFO	1	EFO	Cobblestone lissencephaly	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:97242	Orphanet:370953	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:352687	"" []	575830	\N	\N	EFO	2	EFO	Congenital muscular dystrophy	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:48471	Orphanet:51577	\N	"" []	Orphanet:352687	"" []	575831	\N	\N	EFO	2	EFO	Lissencephaly	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:352687	"" []	1158873	\N	\N	EFO	3	EFO	Muscular dystrophy	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:352687	"" []	1158874	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:352687	"" []	1158875	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:352687	"" []	1158876	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:352687	"" []	2042152	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:352687	"" []	2042153	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:352687	"" []	2042154	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:352687	"" []	2042155	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:352687	"" []	3192430	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:352687	"" []	3192431	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:352687	"" []	3192432	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:352687	"" []	3192433	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:352687	"" []	3192434	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:352687	"" []	4398920	\N	\N	EFO	6	EFO	muscular disease	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:352687	"" []	4398921	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352687	"" []	5416025	\N	\N	EFO	7	EFO	genetic disorder	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352687	"" []	4398923	\N	\N	EFO	6	EFO	genetic disorder	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:352687	"" []	5416024	\N	\N	EFO	7	EFO	skeletal system disease	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352687	"" []	5998177	\N	\N	EFO	8	EFO	disease	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352687	"" []	6151702	\N	\N	EFO	8	EFO	disease	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352687	"" []	6551434	\N	\N	EFO	9	EFO	disposition	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352687	"" []	6889433	\N	\N	EFO	10	EFO	material property	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352687	"" []	7086048	\N	\N	EFO	11	EFO	experimental factor	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Orphanet:352709	\N	\N	"" []	Orphanet:352709	"" []	76909	\N	\N	EFO	0	EFO	CLN13 disease	CLN13 disease
Orphanet:79262	Orphanet:352709	\N	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	Orphanet:352709	"" []	220240	\N	\N	EFO	1	EFO	Adult neuronal ceroid lipofuscinosis	CLN13 disease
Orphanet:216	Orphanet:79262	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:352709	"" []	575832	\N	\N	EFO	2	EFO	Neuronal ceroid lipofuscinosis	CLN13 disease
Orphanet:98261	Orphanet:79262	\N	"" []	Orphanet:352709	"" []	575833	\N	\N	EFO	2	EFO	Progressive myoclonic epilepsy	CLN13 disease
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:352709	"" []	1158877	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	CLN13 disease
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:352709	"" []	1158878	\N	\N	EFO	3	EFO	Lysosomal disease	CLN13 disease
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:352709	"" []	1158879	\N	\N	EFO	3	EFO	Neurometabolic disease	CLN13 disease
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:352709	"" []	1158880	\N	\N	EFO	3	EFO	Unclassified primitive or secondary maculopathy	CLN13 disease
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:352709	"" []	1158881	\N	\N	EFO	3	EFO	Metabolic disease with pigmentary retinitis	CLN13 disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:352709	"" []	1158882	\N	\N	EFO	3	EFO	Childhood-onset epilepsy syndrome	CLN13 disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:352709	"" []	1158883	\N	\N	EFO	3	EFO	Adolescent-onset epilepsy syndrome	CLN13 disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:352709	"" []	2042156	\N	\N	EFO	4	EFO	neurodegenerative disease	CLN13 disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:352709	"" []	2042157	\N	\N	EFO	4	EFO	brain disease	CLN13 disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:352709	"" []	2042158	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN13 disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:352709	"" []	2042159	\N	\N	EFO	4	EFO	Inborn errors of metabolism	CLN13 disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:352709	"" []	2042160	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CLN13 disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:352709	"" []	2042161	\N	\N	EFO	4	EFO	Genetic macular dystrophy	CLN13 disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:352709	"" []	2042162	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	CLN13 disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:352709	"" []	2042163	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN13 disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:352709	"" []	2042164	\N	\N	EFO	4	EFO	Epilepsy syndrome	CLN13 disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352709	"" []	3192435	\N	\N	EFO	5	EFO	nervous system disease	CLN13 disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352709	"" []	3192436	\N	\N	EFO	5	EFO	nervous system disease	CLN13 disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352709	"" []	5416031	\N	\N	EFO	7	EFO	genetic disorder	CLN13 disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352709	"" []	3192438	\N	\N	EFO	5	EFO	genetic disorder	CLN13 disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352709	"" []	3192439	\N	\N	EFO	5	EFO	metabolic disease	CLN13 disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:352709	"" []	3192440	\N	\N	EFO	5	EFO	Retinal dystrophy	CLN13 disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:352709	"" []	3192441	\N	\N	EFO	5	EFO	Rare genetic eye disease	CLN13 disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:352709	"" []	3192442	\N	\N	EFO	5	EFO	Rare genetic epilepsy	CLN13 disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352709	"" []	4398924	\N	\N	EFO	6	EFO	disease	CLN13 disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352709	"" []	6470662	\N	\N	EFO	9	EFO	disease	CLN13 disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352709	"" []	4398926	\N	\N	EFO	6	EFO	disease	CLN13 disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:352709	"" []	4398927	\N	\N	EFO	6	EFO	Genetic vitreous-retinal disease	CLN13 disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352709	"" []	6151705	\N	\N	EFO	8	EFO	genetic disorder	CLN13 disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352709	"" []	6151706	\N	\N	EFO	8	EFO	eye disease	CLN13 disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:352709	"" []	4398930	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	CLN13 disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352709	"" []	6808019	\N	\N	EFO	10	EFO	disposition	CLN13 disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:352709	"" []	5416028	\N	\N	EFO	7	EFO	Rare genetic eye disease	CLN13 disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352709	"" []	6470663	\N	\N	EFO	9	EFO	disease	CLN13 disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352709	"" []	7048724	\N	\N	EFO	11	EFO	material property	CLN13 disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352709	"" []	7190241	\N	\N	EFO	12	EFO	experimental factor	CLN13 disease
Orphanet:352712	\N	\N	"" []	Orphanet:352712	"" []	76910	\N	\N	EFO	0	EFO	Facial dysmorphism - immunodeficiency - livedo - short stature	Facial dysmorphism - immunodeficiency - livedo - short stature
Orphanet:139027	Orphanet:352712	\N	"" []	Orphanet:352712	"" []	220241	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Facial dysmorphism - immunodeficiency - livedo - short stature
Orphanet:183570	Orphanet:352712	\N	"" []	Orphanet:352712	"" []	220242	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Facial dysmorphism - immunodeficiency - livedo - short stature
Orphanet:331217	Orphanet:352712	\N	"" []	Orphanet:352712	"" []	220243	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Facial dysmorphism - immunodeficiency - livedo - short stature
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:352712	"" []	575834	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Facial dysmorphism - immunodeficiency - livedo - short stature
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:352712	"" []	575835	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Facial dysmorphism - immunodeficiency - livedo - short stature
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:352712	"" []	575836	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Facial dysmorphism - immunodeficiency - livedo - short stature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352712	"" []	1158884	\N	\N	EFO	3	EFO	genetic disorder	Facial dysmorphism - immunodeficiency - livedo - short stature
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:352712	"" []	1158885	\N	\N	EFO	3	EFO	Primary immunodeficiency	Facial dysmorphism - immunodeficiency - livedo - short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352712	"" []	4398932	\N	\N	EFO	6	EFO	disease	Facial dysmorphism - immunodeficiency - livedo - short stature
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:352712	"" []	2042166	\N	\N	EFO	4	EFO	Rare genetic immune disease	Facial dysmorphism - immunodeficiency - livedo - short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352712	"" []	5060051	\N	\N	EFO	7	EFO	disposition	Facial dysmorphism - immunodeficiency - livedo - short stature
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352712	"" []	3192444	\N	\N	EFO	5	EFO	genetic disorder	Facial dysmorphism - immunodeficiency - livedo - short stature
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:352712	"" []	3192445	\N	\N	EFO	5	EFO	immune system disease	Facial dysmorphism - immunodeficiency - livedo - short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352712	"" []	5877430	\N	\N	EFO	8	EFO	material property	Facial dysmorphism - immunodeficiency - livedo - short stature
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352712	"" []	4398933	\N	\N	EFO	6	EFO	disease	Facial dysmorphism - immunodeficiency - livedo - short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352712	"" []	6470664	\N	\N	EFO	9	EFO	experimental factor	Facial dysmorphism - immunodeficiency - livedo - short stature
Orphanet:352718	\N	\N	"" []	Orphanet:352718	"" []	76911	\N	\N	EFO	0	EFO	Progressive retinal dystrophy due to retinol transport defect	Progressive retinal dystrophy due to retinol transport defect
Orphanet:309833	Orphanet:352718	\N	"" []	Orphanet:352718	"" []	220244	\N	\N	EFO	1	EFO	Disorder of other vitamins and cofactors metabolism and transport	Progressive retinal dystrophy due to retinol transport defect
Orphanet:71862	Orphanet:352718	\N	"" []	Orphanet:352718	"" []	220245	\N	\N	EFO	1	EFO	Retinal dystrophy	Progressive retinal dystrophy due to retinol transport defect
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:352718	"" []	575837	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Progressive retinal dystrophy due to retinol transport defect
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:352718	"" []	575838	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Progressive retinal dystrophy due to retinol transport defect
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:352718	"" []	1158886	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Progressive retinal dystrophy due to retinol transport defect
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:352718	"" []	1158887	\N	\N	EFO	3	EFO	Rare genetic eye disease	Progressive retinal dystrophy due to retinol transport defect
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:352718	"" []	2042167	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Progressive retinal dystrophy due to retinol transport defect
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352718	"" []	2042168	\N	\N	EFO	4	EFO	genetic disorder	Progressive retinal dystrophy due to retinol transport defect
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352718	"" []	2042169	\N	\N	EFO	4	EFO	eye disease	Progressive retinal dystrophy due to retinol transport defect
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352718	"" []	3192446	\N	\N	EFO	5	EFO	genetic disorder	Progressive retinal dystrophy due to retinol transport defect
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352718	"" []	3192447	\N	\N	EFO	5	EFO	metabolic disease	Progressive retinal dystrophy due to retinol transport defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352718	"" []	4398934	\N	\N	EFO	6	EFO	disease	Progressive retinal dystrophy due to retinol transport defect
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352718	"" []	3192449	\N	\N	EFO	5	EFO	disease	Progressive retinal dystrophy due to retinol transport defect
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352718	"" []	4398935	\N	\N	EFO	6	EFO	disease	Progressive retinal dystrophy due to retinol transport defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352718	"" []	5182804	\N	\N	EFO	7	EFO	disposition	Progressive retinal dystrophy due to retinol transport defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352718	"" []	5998179	\N	\N	EFO	8	EFO	material property	Progressive retinal dystrophy due to retinol transport defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352718	"" []	6551436	\N	\N	EFO	9	EFO	experimental factor	Progressive retinal dystrophy due to retinol transport defect
Orphanet:352723	\N	\N	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	76912	\N	\N	EFO	0	EFO	Attenuated Chdiak-Higashi syndrome	Attenuated Chdiak-Higashi syndrome
Orphanet:183500	Orphanet:352723	\N	"" []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	220246	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Attenuated Chdiak-Higashi syndrome
Orphanet:207015	Orphanet:352723	\N	"" []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	220247	\N	\N	EFO	1	EFO	Rare hereditary disease with peripheral neuropathy	Attenuated Chdiak-Higashi syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	575839	\N	\N	EFO	2	EFO	neurodegenerative disease	Attenuated Chdiak-Higashi syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	575840	\N	\N	EFO	2	EFO	brain disease	Attenuated Chdiak-Higashi syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	575841	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Attenuated Chdiak-Higashi syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	575842	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Attenuated Chdiak-Higashi syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	1158888	\N	\N	EFO	3	EFO	nervous system disease	Attenuated Chdiak-Higashi syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	1158889	\N	\N	EFO	3	EFO	nervous system disease	Attenuated Chdiak-Higashi syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	2042172	\N	\N	EFO	4	EFO	genetic disorder	Attenuated Chdiak-Higashi syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	1158891	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Attenuated Chdiak-Higashi syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	2042170	\N	\N	EFO	4	EFO	disease	Attenuated Chdiak-Higashi syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	3000333	\N	\N	EFO	5	EFO	disease	Attenuated Chdiak-Higashi syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	4133965	\N	\N	EFO	6	EFO	disposition	Attenuated Chdiak-Higashi syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	5182805	\N	\N	EFO	7	EFO	material property	Attenuated Chdiak-Higashi syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352723	"Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." []	5998180	\N	\N	EFO	8	EFO	experimental factor	Attenuated Chdiak-Higashi syndrome
Orphanet:352728	\N	\N	"" []	Orphanet:352728	"" []	76913	\N	\N	EFO	0	EFO	Disorder of melanin metabolism	Disorder of melanin metabolism
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:352728	"" []	220248	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of melanin metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:352728	"" []	575843	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of melanin metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352728	"" []	1158892	\N	\N	EFO	3	EFO	genetic disorder	Disorder of melanin metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352728	"" []	1158893	\N	\N	EFO	3	EFO	metabolic disease	Disorder of melanin metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352728	"" []	2042173	\N	\N	EFO	4	EFO	disease	Disorder of melanin metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352728	"" []	2042174	\N	\N	EFO	4	EFO	disease	Disorder of melanin metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352728	"" []	3192451	\N	\N	EFO	5	EFO	disposition	Disorder of melanin metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352728	"" []	4398938	\N	\N	EFO	6	EFO	material property	Disorder of melanin metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352728	"" []	5416035	\N	\N	EFO	7	EFO	experimental factor	Disorder of melanin metabolism
Orphanet:352731	\N	\N	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	76914	\N	\N	EFO	0	EFO	Oculocutaneous albinism type 1	Oculocutaneous albinism type 1
Orphanet:55	Orphanet:352731	\N	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	220249	\N	\N	EFO	1	EFO	Oculocutaneous albinism	Oculocutaneous albinism type 1
Orphanet:183469	Orphanet:55	\N	"" []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	575844	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Oculocutaneous albinism type 1
Orphanet:352728	Orphanet:55	\N	"" []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	575845	\N	\N	EFO	2	EFO	Disorder of melanin metabolism	Oculocutaneous albinism type 1
Orphanet:98706	Orphanet:55	\N	"" []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	575846	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Oculocutaneous albinism type 1
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	1158894	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Oculocutaneous albinism type 1
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	1158895	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Oculocutaneous albinism type 1
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	1158896	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Oculocutaneous albinism type 1
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	2042175	\N	\N	EFO	4	EFO	Rare genetic skin disease	Oculocutaneous albinism type 1
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	2042176	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Oculocutaneous albinism type 1
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	2042177	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Oculocutaneous albinism type 1
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	3192452	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 1
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	3192453	\N	\N	EFO	5	EFO	skin disease	Oculocutaneous albinism type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	3192454	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	3192455	\N	\N	EFO	5	EFO	metabolic disease	Oculocutaneous albinism type 1
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	3192456	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oculocutaneous albinism type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	5416037	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 1
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	4398940	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	4398941	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	4398942	\N	\N	EFO	6	EFO	genetic disorder	Oculocutaneous albinism type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	4398943	\N	\N	EFO	6	EFO	eye disease	Oculocutaneous albinism type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	5998181	\N	\N	EFO	8	EFO	disposition	Oculocutaneous albinism type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	5416038	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	6551437	\N	\N	EFO	9	EFO	material property	Oculocutaneous albinism type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352731	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	6889435	\N	\N	EFO	10	EFO	experimental factor	Oculocutaneous albinism type 1
Orphanet:352734	\N	\N	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	76915	\N	\N	EFO	0	EFO	Minimal pigment oculocutaneous albinism type 1	Minimal pigment oculocutaneous albinism type 1
Orphanet:352731	Orphanet:352734	\N	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	220250	\N	\N	EFO	1	EFO	Oculocutaneous albinism type 1	Minimal pigment oculocutaneous albinism type 1
Orphanet:55	Orphanet:352731	\N	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	575847	\N	\N	EFO	2	EFO	Oculocutaneous albinism	Minimal pigment oculocutaneous albinism type 1
Orphanet:183469	Orphanet:55	\N	"" []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	1158897	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Minimal pigment oculocutaneous albinism type 1
Orphanet:352728	Orphanet:55	\N	"" []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	1158898	\N	\N	EFO	3	EFO	Disorder of melanin metabolism	Minimal pigment oculocutaneous albinism type 1
Orphanet:98706	Orphanet:55	\N	"" []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	1158899	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Minimal pigment oculocutaneous albinism type 1
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	2042178	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Minimal pigment oculocutaneous albinism type 1
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	2042179	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Minimal pigment oculocutaneous albinism type 1
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	2042180	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Minimal pigment oculocutaneous albinism type 1
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	3192457	\N	\N	EFO	5	EFO	Rare genetic skin disease	Minimal pigment oculocutaneous albinism type 1
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	3192458	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Minimal pigment oculocutaneous albinism type 1
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	3192459	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Minimal pigment oculocutaneous albinism type 1
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	4398944	\N	\N	EFO	6	EFO	genetic disorder	Minimal pigment oculocutaneous albinism type 1
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	4398945	\N	\N	EFO	6	EFO	skin disease	Minimal pigment oculocutaneous albinism type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	4398946	\N	\N	EFO	6	EFO	genetic disorder	Minimal pigment oculocutaneous albinism type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	4398947	\N	\N	EFO	6	EFO	metabolic disease	Minimal pigment oculocutaneous albinism type 1
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	4398948	\N	\N	EFO	6	EFO	Rare genetic eye disease	Minimal pigment oculocutaneous albinism type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	6151710	\N	\N	EFO	8	EFO	disease	Minimal pigment oculocutaneous albinism type 1
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	5416040	\N	\N	EFO	7	EFO	disease	Minimal pigment oculocutaneous albinism type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	5416041	\N	\N	EFO	7	EFO	disease	Minimal pigment oculocutaneous albinism type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	5416042	\N	\N	EFO	7	EFO	genetic disorder	Minimal pigment oculocutaneous albinism type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	5416043	\N	\N	EFO	7	EFO	eye disease	Minimal pigment oculocutaneous albinism type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	6551438	\N	\N	EFO	9	EFO	disposition	Minimal pigment oculocutaneous albinism type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	6151711	\N	\N	EFO	8	EFO	disease	Minimal pigment oculocutaneous albinism type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	6889436	\N	\N	EFO	10	EFO	material property	Minimal pigment oculocutaneous albinism type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352734	"Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." []	7086049	\N	\N	EFO	11	EFO	experimental factor	Minimal pigment oculocutaneous albinism type 1
Orphanet:352737	\N	\N	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	76916	\N	\N	EFO	0	EFO	Temperature-sensitive oculocutaneous albinism type 1	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:352731	Orphanet:352737	\N	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	220251	\N	\N	EFO	1	EFO	Oculocutaneous albinism type 1	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:55	Orphanet:352731	\N	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	575848	\N	\N	EFO	2	EFO	Oculocutaneous albinism	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:183469	Orphanet:55	\N	"" []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	1158900	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:352728	Orphanet:55	\N	"" []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	1158901	\N	\N	EFO	3	EFO	Disorder of melanin metabolism	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:98706	Orphanet:55	\N	"" []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	1158902	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	2042181	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	2042182	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	2042183	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	3192460	\N	\N	EFO	5	EFO	Rare genetic skin disease	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	3192461	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	3192462	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Temperature-sensitive oculocutaneous albinism type 1
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	4398949	\N	\N	EFO	6	EFO	genetic disorder	Temperature-sensitive oculocutaneous albinism type 1
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	4398950	\N	\N	EFO	6	EFO	skin disease	Temperature-sensitive oculocutaneous albinism type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	4398951	\N	\N	EFO	6	EFO	genetic disorder	Temperature-sensitive oculocutaneous albinism type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	4398952	\N	\N	EFO	6	EFO	metabolic disease	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	4398953	\N	\N	EFO	6	EFO	Rare genetic eye disease	Temperature-sensitive oculocutaneous albinism type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	6151713	\N	\N	EFO	8	EFO	disease	Temperature-sensitive oculocutaneous albinism type 1
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	5416045	\N	\N	EFO	7	EFO	disease	Temperature-sensitive oculocutaneous albinism type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	5416046	\N	\N	EFO	7	EFO	disease	Temperature-sensitive oculocutaneous albinism type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	5416047	\N	\N	EFO	7	EFO	genetic disorder	Temperature-sensitive oculocutaneous albinism type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	5416048	\N	\N	EFO	7	EFO	eye disease	Temperature-sensitive oculocutaneous albinism type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	6551439	\N	\N	EFO	9	EFO	disposition	Temperature-sensitive oculocutaneous albinism type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	6151714	\N	\N	EFO	8	EFO	disease	Temperature-sensitive oculocutaneous albinism type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	6889437	\N	\N	EFO	10	EFO	material property	Temperature-sensitive oculocutaneous albinism type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352737	"Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." []	7086050	\N	\N	EFO	11	EFO	experimental factor	Temperature-sensitive oculocutaneous albinism type 1
Orphanet:352740	\N	\N	"" []	Orphanet:352740	"" []	76917	\N	\N	EFO	0	EFO	Ocular albinism with congenital sensorineural deafness	Ocular albinism with congenital sensorineural deafness
Orphanet:284804	Orphanet:352740	\N	"" []	Orphanet:352740	"" []	220252	\N	\N	EFO	1	EFO	Ocular albinism	Ocular albinism with congenital sensorineural deafness
Orphanet:352728	Orphanet:284804	\N	"" []	Orphanet:352740	"" []	575849	\N	\N	EFO	2	EFO	Disorder of melanin metabolism	Ocular albinism with congenital sensorineural deafness
Orphanet:98706	Orphanet:284804	\N	"" []	Orphanet:352740	"" []	575850	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Ocular albinism with congenital sensorineural deafness
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:352740	"" []	1158903	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Ocular albinism with congenital sensorineural deafness
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:352740	"" []	1158904	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Ocular albinism with congenital sensorineural deafness
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:352740	"" []	2042184	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Ocular albinism with congenital sensorineural deafness
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:352740	"" []	2042185	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Ocular albinism with congenital sensorineural deafness
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352740	"" []	3192463	\N	\N	EFO	5	EFO	genetic disorder	Ocular albinism with congenital sensorineural deafness
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352740	"" []	3192464	\N	\N	EFO	5	EFO	metabolic disease	Ocular albinism with congenital sensorineural deafness
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:352740	"" []	3192465	\N	\N	EFO	5	EFO	Rare genetic eye disease	Ocular albinism with congenital sensorineural deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352740	"" []	5416050	\N	\N	EFO	7	EFO	disease	Ocular albinism with congenital sensorineural deafness
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352740	"" []	4398955	\N	\N	EFO	6	EFO	disease	Ocular albinism with congenital sensorineural deafness
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352740	"" []	4398956	\N	\N	EFO	6	EFO	genetic disorder	Ocular albinism with congenital sensorineural deafness
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352740	"" []	4398957	\N	\N	EFO	6	EFO	eye disease	Ocular albinism with congenital sensorineural deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352740	"" []	5998182	\N	\N	EFO	8	EFO	disposition	Ocular albinism with congenital sensorineural deafness
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352740	"" []	5416051	\N	\N	EFO	7	EFO	disease	Ocular albinism with congenital sensorineural deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352740	"" []	6551440	\N	\N	EFO	9	EFO	material property	Ocular albinism with congenital sensorineural deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352740	"" []	6889438	\N	\N	EFO	10	EFO	experimental factor	Ocular albinism with congenital sensorineural deafness
Orphanet:352745	\N	\N	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	76918	\N	\N	EFO	0	EFO	Oculocutaneous albinism type 7	Oculocutaneous albinism type 7
Orphanet:55	Orphanet:352745	\N	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	220253	\N	\N	EFO	1	EFO	Oculocutaneous albinism	Oculocutaneous albinism type 7
Orphanet:183469	Orphanet:55	\N	"" []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	575851	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Oculocutaneous albinism type 7
Orphanet:352728	Orphanet:55	\N	"" []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	575852	\N	\N	EFO	2	EFO	Disorder of melanin metabolism	Oculocutaneous albinism type 7
Orphanet:98706	Orphanet:55	\N	"" []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	575853	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Oculocutaneous albinism type 7
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	1158905	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Oculocutaneous albinism type 7
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	1158906	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Oculocutaneous albinism type 7
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	1158907	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Oculocutaneous albinism type 7
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	2042186	\N	\N	EFO	4	EFO	Rare genetic skin disease	Oculocutaneous albinism type 7
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	2042187	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Oculocutaneous albinism type 7
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	2042188	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Oculocutaneous albinism type 7
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	3192466	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 7
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	3192467	\N	\N	EFO	5	EFO	skin disease	Oculocutaneous albinism type 7
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	3192468	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 7
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	3192469	\N	\N	EFO	5	EFO	metabolic disease	Oculocutaneous albinism type 7
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	3192470	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oculocutaneous albinism type 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	5416053	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 7
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	4398959	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 7
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	4398960	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 7
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	4398961	\N	\N	EFO	6	EFO	genetic disorder	Oculocutaneous albinism type 7
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	4398962	\N	\N	EFO	6	EFO	eye disease	Oculocutaneous albinism type 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	5998183	\N	\N	EFO	8	EFO	disposition	Oculocutaneous albinism type 7
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	5416054	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	6551441	\N	\N	EFO	9	EFO	material property	Oculocutaneous albinism type 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:352745	"Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." []	6889439	\N	\N	EFO	10	EFO	experimental factor	Oculocutaneous albinism type 7
Orphanet:353	\N	\N	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	76919	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2C	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:102015	Orphanet:353	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	220254	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:207067	Orphanet:353	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	220255	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of gamma-sarcoglycan	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:217610	Orphanet:353	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	220256	\N	\N	EFO	1	EFO	Neuromuscular disease with dilated cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	575854	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:207052	Orphanet:207067	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	575855	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of sarcoglycan	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	575856	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	1158908	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:207049	Orphanet:207052	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	1158909	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2C
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	1158910	\N	\N	EFO	3	EFO	cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	1158911	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	2042189	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	2042190	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2C
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	2042191	\N	\N	EFO	4	EFO	heart disease	Autosomal recessive limb-girdle muscular dystrophy type 2C
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	2042192	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2C
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	2042193	\N	\N	EFO	4	EFO	heart disease	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	3192471	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2C
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	5416055	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	5416056	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2C
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	3192474	\N	\N	EFO	5	EFO	cardiovascular disease	Autosomal recessive limb-girdle muscular dystrophy type 2C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	6470666	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	4398963	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2C
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	5877431	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2C
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	5877432	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2C
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	4398966	\N	\N	EFO	6	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	6778760	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2C
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	6470665	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	7029956	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:353	"Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." []	7181802	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2C
Orphanet:353217	\N	\N	"" []	Orphanet:353217	"" []	76920	\N	\N	EFO	0	EFO	Epileptic encephalopathy with global cerebral demyelination	Epileptic encephalopathy with global cerebral demyelination
Orphanet:254830	Orphanet:353217	\N	"" []	Orphanet:353217	"" []	220257	\N	\N	EFO	1	EFO	Mitochondrial substrate carrier disorder	Epileptic encephalopathy with global cerebral demyelination
Orphanet:98257	Orphanet:353217	\N	"" []	Orphanet:353217	"" []	220258	\N	\N	EFO	1	EFO	Neonatal epilepsy syndrome	Epileptic encephalopathy with global cerebral demyelination
Orphanet:254827	Orphanet:254830	\N	"" []	Orphanet:353217	"" []	575857	\N	\N	EFO	2	EFO	Mitochondrial membrane transport disorder	Epileptic encephalopathy with global cerebral demyelination
Orphanet:166463	Orphanet:98257	\N	"" []	Orphanet:353217	"" []	575858	\N	\N	EFO	2	EFO	Epilepsy syndrome	Epileptic encephalopathy with global cerebral demyelination
Orphanet:68380	Orphanet:254827	\N	"" []	Orphanet:353217	"" []	1158912	\N	\N	EFO	3	EFO	Mitochondrial disease	Epileptic encephalopathy with global cerebral demyelination
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:353217	"" []	1158913	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Epileptic encephalopathy with global cerebral demyelination
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:353217	"" []	2042194	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Epileptic encephalopathy with global cerebral demyelination
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:353217	"" []	2042195	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Epileptic encephalopathy with global cerebral demyelination
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:353217	"" []	2042196	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Epileptic encephalopathy with global cerebral demyelination
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:353217	"" []	3192476	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Epileptic encephalopathy with global cerebral demyelination
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:353217	"" []	3192477	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Epileptic encephalopathy with global cerebral demyelination
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353217	"" []	3192478	\N	\N	EFO	5	EFO	genetic disorder	Epileptic encephalopathy with global cerebral demyelination
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353217	"" []	4398968	\N	\N	EFO	6	EFO	genetic disorder	Epileptic encephalopathy with global cerebral demyelination
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353217	"" []	4398969	\N	\N	EFO	6	EFO	genetic disorder	Epileptic encephalopathy with global cerebral demyelination
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:353217	"" []	4398970	\N	\N	EFO	6	EFO	metabolic disease	Epileptic encephalopathy with global cerebral demyelination
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353217	"" []	5416061	\N	\N	EFO	7	EFO	disease	Epileptic encephalopathy with global cerebral demyelination
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353217	"" []	5416062	\N	\N	EFO	7	EFO	disease	Epileptic encephalopathy with global cerebral demyelination
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:353217	"" []	5998185	\N	\N	EFO	8	EFO	disposition	Epileptic encephalopathy with global cerebral demyelination
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:353217	"" []	6551443	\N	\N	EFO	9	EFO	material property	Epileptic encephalopathy with global cerebral demyelination
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:353217	"" []	6889440	\N	\N	EFO	10	EFO	experimental factor	Epileptic encephalopathy with global cerebral demyelination
Orphanet:353220	\N	\N	"" []	Orphanet:353220	"" []	76921	\N	\N	EFO	0	EFO	Familial primary localized cutaneous amyloidosis	Familial primary localized cutaneous amyloidosis
Orphanet:183472	Orphanet:353220	\N	"" []	Orphanet:353220	"" []	220259	\N	\N	EFO	1	EFO	Genetic dermis disorder	Familial primary localized cutaneous amyloidosis
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:353220	"" []	575859	\N	\N	EFO	2	EFO	Rare genetic skin disease	Familial primary localized cutaneous amyloidosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353220	"" []	1158914	\N	\N	EFO	3	EFO	genetic disorder	Familial primary localized cutaneous amyloidosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:353220	"" []	1158915	\N	\N	EFO	3	EFO	skin disease	Familial primary localized cutaneous amyloidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353220	"" []	2042197	\N	\N	EFO	4	EFO	disease	Familial primary localized cutaneous amyloidosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353220	"" []	2042198	\N	\N	EFO	4	EFO	disease	Familial primary localized cutaneous amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:353220	"" []	3192479	\N	\N	EFO	5	EFO	disposition	Familial primary localized cutaneous amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:353220	"" []	4398972	\N	\N	EFO	6	EFO	material property	Familial primary localized cutaneous amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:353220	"" []	5416064	\N	\N	EFO	7	EFO	experimental factor	Familial primary localized cutaneous amyloidosis
Orphanet:353277	\N	\N	"" []	Orphanet:353277	"" []	76922	\N	\N	EFO	0	EFO	Rubinstein-Taybi syndrome due to CREBBP mutations	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:783	Orphanet:353277	\N	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	Orphanet:353277	"" []	220260	\N	\N	EFO	1	EFO	Rubinstein-Taybi syndrome	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:102283	Orphanet:783	\N	"" []	Orphanet:353277	"" []	575860	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:108987	Orphanet:783	\N	"" []	Orphanet:353277	"" []	575861	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183422	Orphanet:783	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:353277	"" []	575862	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183570	Orphanet:783	\N	"" []	Orphanet:353277	"" []	575863	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183763	Orphanet:783	\N	"" []	Orphanet:353277	"" []	575864	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:240371	Orphanet:783	\N	"" []	Orphanet:353277	"" []	575865	\N	\N	EFO	2	EFO	Syndromic obesity	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:261956	Orphanet:783	\N	"" []	Orphanet:353277	"" []	575866	\N	\N	EFO	2	EFO	Partial deletion of the short arm of chromosome 16	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:69028	Orphanet:783	\N	"" []	Orphanet:353277	"" []	575867	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:93547	Orphanet:783	\N	"" []	Orphanet:353277	"" []	575868	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:98638	Orphanet:783	\N	"" []	Orphanet:353277	"" []	575869	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:98655	Orphanet:783	\N	"" []	Orphanet:353277	"" []	575870	\N	\N	EFO	2	EFO	Lens shape anomaly	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:98666	Orphanet:783	\N	"" []	Orphanet:353277	"" []	575871	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:353277	"" []	1158916	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:353277	"" []	1158917	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:353277	"" []	1158918	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:353277	"" []	1158919	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:353277	"" []	1158920	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:353277	"" []	1158921	\N	\N	EFO	3	EFO	Genetic obesity	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:261826	Orphanet:261956	\N	"" []	Orphanet:353277	"" []	1158922	\N	\N	EFO	3	EFO	Partial deletion of chromosome 16	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:353277	"" []	1158923	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:353277	"" []	1158924	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:353277	"" []	1158925	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:353277	"" []	1158926	\N	\N	EFO	3	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:353277	"" []	1158927	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:353277	"" []	1158928	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:353277	"" []	2042199	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:353277	"" []	2042200	\N	\N	EFO	4	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:353277	"" []	2042201	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353277	"" []	2042202	\N	\N	EFO	4	EFO	genetic disorder	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353277	"" []	5416068	\N	\N	EFO	7	EFO	genetic disorder	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:353277	"" []	2042204	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:353277	"" []	2042205	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:353277	"" []	2042206	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:353277	"" []	2042207	\N	\N	EFO	4	EFO	Partial autosomal monosomy	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:353277	"" []	2042208	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:353277	"" []	2042209	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:353277	"" []	2042210	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:353277	"" []	2042211	\N	\N	EFO	4	EFO	Rare genetic renal disease	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353277	"" []	5416069	\N	\N	EFO	7	EFO	genetic disorder	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:353277	"" []	5416070	\N	\N	EFO	7	EFO	eye disease	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:353277	"" []	2042214	\N	\N	EFO	4	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:353277	"" []	2042215	\N	\N	EFO	4	EFO	Retinal dystrophy	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353277	"" []	6633767	\N	\N	EFO	9	EFO	disease	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353277	"" []	3192484	\N	\N	EFO	5	EFO	genetic disorder	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353277	"" []	3192485	\N	\N	EFO	5	EFO	genetic disorder	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:353277	"" []	3192486	\N	\N	EFO	5	EFO	endocrine system disease	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:353277	"" []	3192487	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:353277	"" []	3192488	\N	\N	EFO	5	EFO	Autosomal monosomy	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:353277	"" []	3192489	\N	\N	EFO	5	EFO	Rare genetic bone disease	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:353277	"" []	3192490	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:353277	"" []	3192491	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353277	"" []	3192492	\N	\N	EFO	5	EFO	genetic disorder	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353277	"" []	5817733	\N	\N	EFO	8	EFO	disease	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:353277	"" []	3192494	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Rubinstein-Taybi syndrome due to CREBBP mutations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:353277	"" []	6778761	\N	\N	EFO	10	EFO	disposition	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353277	"" []	4398974	\N	\N	EFO	6	EFO	disease	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:353277	"" []	4398976	\N	\N	EFO	6	EFO	Autosomal anomaly	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353277	"" []	4398977	\N	\N	EFO	6	EFO	genetic disorder	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:353277	"" []	4398978	\N	\N	EFO	6	EFO	bone disease	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:353277	"" []	4398979	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:353277	"" []	4398980	\N	\N	EFO	6	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome due to CREBBP mutations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:353277	"" []	7029957	\N	\N	EFO	11	EFO	material property	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:353277	"" []	5416066	\N	\N	EFO	7	EFO	Chromosomal anomaly	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:353277	"" []	5416067	\N	\N	EFO	7	EFO	skeletal system disease	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:353277	"" []	7181803	\N	\N	EFO	12	EFO	experimental factor	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353277	"" []	6151720	\N	\N	EFO	8	EFO	genetic disorder	Rubinstein-Taybi syndrome due to CREBBP mutations
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353277	"" []	6151721	\N	\N	EFO	8	EFO	disease	Rubinstein-Taybi syndrome due to CREBBP mutations
Orphanet:353281	\N	\N	"" []	Orphanet:353281	"" []	76923	\N	\N	EFO	0	EFO	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:783	Orphanet:353281	\N	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	Orphanet:353281	"" []	220261	\N	\N	EFO	1	EFO	Rubinstein-Taybi syndrome	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:102283	Orphanet:783	\N	"" []	Orphanet:353281	"" []	575872	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:108987	Orphanet:783	\N	"" []	Orphanet:353281	"" []	575873	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183422	Orphanet:783	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:353281	"" []	575874	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183570	Orphanet:783	\N	"" []	Orphanet:353281	"" []	575875	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183763	Orphanet:783	\N	"" []	Orphanet:353281	"" []	575876	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:240371	Orphanet:783	\N	"" []	Orphanet:353281	"" []	575877	\N	\N	EFO	2	EFO	Syndromic obesity	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:261956	Orphanet:783	\N	"" []	Orphanet:353281	"" []	575878	\N	\N	EFO	2	EFO	Partial deletion of the short arm of chromosome 16	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:69028	Orphanet:783	\N	"" []	Orphanet:353281	"" []	575879	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:93547	Orphanet:783	\N	"" []	Orphanet:353281	"" []	575880	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:98638	Orphanet:783	\N	"" []	Orphanet:353281	"" []	575881	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:98655	Orphanet:783	\N	"" []	Orphanet:353281	"" []	575882	\N	\N	EFO	2	EFO	Lens shape anomaly	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:98666	Orphanet:783	\N	"" []	Orphanet:353281	"" []	575883	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:353281	"" []	1158929	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:353281	"" []	1158930	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:353281	"" []	1158931	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:353281	"" []	1158932	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:353281	"" []	1158933	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:353281	"" []	1158934	\N	\N	EFO	3	EFO	Genetic obesity	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:261826	Orphanet:261956	\N	"" []	Orphanet:353281	"" []	1158935	\N	\N	EFO	3	EFO	Partial deletion of chromosome 16	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:353281	"" []	1158936	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:353281	"" []	1158937	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:353281	"" []	1158938	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:353281	"" []	1158939	\N	\N	EFO	3	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:353281	"" []	1158940	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:353281	"" []	1158941	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:353281	"" []	2042216	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:353281	"" []	2042217	\N	\N	EFO	4	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:353281	"" []	2042218	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353281	"" []	2042219	\N	\N	EFO	4	EFO	genetic disorder	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353281	"" []	5416074	\N	\N	EFO	7	EFO	genetic disorder	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:353281	"" []	2042221	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:353281	"" []	2042222	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:353281	"" []	2042223	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:353281	"" []	2042224	\N	\N	EFO	4	EFO	Partial autosomal monosomy	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:353281	"" []	2042225	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:353281	"" []	2042226	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:353281	"" []	2042227	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:353281	"" []	2042228	\N	\N	EFO	4	EFO	Rare genetic renal disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353281	"" []	5416075	\N	\N	EFO	7	EFO	genetic disorder	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:353281	"" []	5416076	\N	\N	EFO	7	EFO	eye disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:353281	"" []	2042231	\N	\N	EFO	4	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:353281	"" []	2042232	\N	\N	EFO	4	EFO	Retinal dystrophy	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353281	"" []	6633768	\N	\N	EFO	9	EFO	disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353281	"" []	3192499	\N	\N	EFO	5	EFO	genetic disorder	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353281	"" []	3192500	\N	\N	EFO	5	EFO	genetic disorder	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:353281	"" []	3192501	\N	\N	EFO	5	EFO	endocrine system disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:353281	"" []	3192502	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:353281	"" []	3192503	\N	\N	EFO	5	EFO	Autosomal monosomy	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:353281	"" []	3192504	\N	\N	EFO	5	EFO	Rare genetic bone disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:353281	"" []	3192505	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:353281	"" []	3192506	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353281	"" []	3192507	\N	\N	EFO	5	EFO	genetic disorder	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353281	"" []	5817735	\N	\N	EFO	8	EFO	disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:353281	"" []	3192509	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:353281	"" []	6778762	\N	\N	EFO	10	EFO	disposition	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353281	"" []	4398982	\N	\N	EFO	6	EFO	disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:353281	"" []	4398984	\N	\N	EFO	6	EFO	Autosomal anomaly	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353281	"" []	4398985	\N	\N	EFO	6	EFO	genetic disorder	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:353281	"" []	4398986	\N	\N	EFO	6	EFO	bone disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:353281	"" []	4398987	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:353281	"" []	4398988	\N	\N	EFO	6	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:353281	"" []	7029958	\N	\N	EFO	11	EFO	material property	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:353281	"" []	5416072	\N	\N	EFO	7	EFO	Chromosomal anomaly	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:353281	"" []	5416073	\N	\N	EFO	7	EFO	skeletal system disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:353281	"" []	7181804	\N	\N	EFO	12	EFO	experimental factor	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353281	"" []	6151723	\N	\N	EFO	8	EFO	genetic disorder	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353281	"" []	6151724	\N	\N	EFO	8	EFO	disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Orphanet:353284	\N	\N	"" []	Orphanet:353284	"" []	76924	\N	\N	EFO	0	EFO	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:783	Orphanet:353284	\N	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	Orphanet:353284	"" []	220262	\N	\N	EFO	1	EFO	Rubinstein-Taybi syndrome	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:102283	Orphanet:783	\N	"" []	Orphanet:353284	"" []	575884	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:108987	Orphanet:783	\N	"" []	Orphanet:353284	"" []	575885	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183422	Orphanet:783	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:353284	"" []	575886	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183570	Orphanet:783	\N	"" []	Orphanet:353284	"" []	575887	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183763	Orphanet:783	\N	"" []	Orphanet:353284	"" []	575888	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:240371	Orphanet:783	\N	"" []	Orphanet:353284	"" []	575889	\N	\N	EFO	2	EFO	Syndromic obesity	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:261956	Orphanet:783	\N	"" []	Orphanet:353284	"" []	575890	\N	\N	EFO	2	EFO	Partial deletion of the short arm of chromosome 16	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:69028	Orphanet:783	\N	"" []	Orphanet:353284	"" []	575891	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:93547	Orphanet:783	\N	"" []	Orphanet:353284	"" []	575892	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:98638	Orphanet:783	\N	"" []	Orphanet:353284	"" []	575893	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:98655	Orphanet:783	\N	"" []	Orphanet:353284	"" []	575894	\N	\N	EFO	2	EFO	Lens shape anomaly	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:98666	Orphanet:783	\N	"" []	Orphanet:353284	"" []	575895	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:353284	"" []	1158942	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:353284	"" []	1158943	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:353284	"" []	1158944	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:353284	"" []	1158945	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:353284	"" []	1158946	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:353284	"" []	1158947	\N	\N	EFO	3	EFO	Genetic obesity	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:261826	Orphanet:261956	\N	"" []	Orphanet:353284	"" []	1158948	\N	\N	EFO	3	EFO	Partial deletion of chromosome 16	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:353284	"" []	1158949	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:353284	"" []	1158950	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:353284	"" []	1158951	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:353284	"" []	1158952	\N	\N	EFO	3	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:353284	"" []	1158953	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:353284	"" []	1158954	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:353284	"" []	2042233	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:353284	"" []	2042234	\N	\N	EFO	4	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:353284	"" []	2042235	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353284	"" []	2042236	\N	\N	EFO	4	EFO	genetic disorder	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353284	"" []	5416080	\N	\N	EFO	7	EFO	genetic disorder	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:353284	"" []	2042238	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:353284	"" []	2042239	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:353284	"" []	2042240	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:353284	"" []	2042241	\N	\N	EFO	4	EFO	Partial autosomal monosomy	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:353284	"" []	2042242	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:353284	"" []	2042243	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:353284	"" []	2042244	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:353284	"" []	2042245	\N	\N	EFO	4	EFO	Rare genetic renal disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353284	"" []	5416081	\N	\N	EFO	7	EFO	genetic disorder	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:353284	"" []	5416082	\N	\N	EFO	7	EFO	eye disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:353284	"" []	2042248	\N	\N	EFO	4	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:353284	"" []	2042249	\N	\N	EFO	4	EFO	Retinal dystrophy	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353284	"" []	6633769	\N	\N	EFO	9	EFO	disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353284	"" []	3192514	\N	\N	EFO	5	EFO	genetic disorder	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353284	"" []	3192515	\N	\N	EFO	5	EFO	genetic disorder	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:353284	"" []	3192516	\N	\N	EFO	5	EFO	endocrine system disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:353284	"" []	3192517	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:353284	"" []	3192518	\N	\N	EFO	5	EFO	Autosomal monosomy	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:353284	"" []	3192519	\N	\N	EFO	5	EFO	Rare genetic bone disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:353284	"" []	3192520	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:353284	"" []	3192521	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353284	"" []	3192522	\N	\N	EFO	5	EFO	genetic disorder	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353284	"" []	5817737	\N	\N	EFO	8	EFO	disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:353284	"" []	3192524	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:353284	"" []	6778763	\N	\N	EFO	10	EFO	disposition	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353284	"" []	4398990	\N	\N	EFO	6	EFO	disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:353284	"" []	4398992	\N	\N	EFO	6	EFO	Autosomal anomaly	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353284	"" []	4398993	\N	\N	EFO	6	EFO	genetic disorder	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:353284	"" []	4398994	\N	\N	EFO	6	EFO	bone disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:353284	"" []	4398995	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:353284	"" []	4398996	\N	\N	EFO	6	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:353284	"" []	7029959	\N	\N	EFO	11	EFO	material property	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:353284	"" []	5416078	\N	\N	EFO	7	EFO	Chromosomal anomaly	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:353284	"" []	5416079	\N	\N	EFO	7	EFO	skeletal system disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:353284	"" []	7181805	\N	\N	EFO	12	EFO	experimental factor	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353284	"" []	6151726	\N	\N	EFO	8	EFO	genetic disorder	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353284	"" []	6151727	\N	\N	EFO	8	EFO	disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Orphanet:353298	\N	\N	"" []	Orphanet:353298	"" []	76925	\N	\N	EFO	0	EFO	Roifman syndrome	Roifman syndrome
Orphanet:253	Orphanet:353298	\N	"" []	Orphanet:353298	"" []	220263	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Roifman syndrome
Orphanet:331244	Orphanet:353298	\N	"" []	Orphanet:353298	"" []	220264	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome with predominantly antibody defects	Roifman syndrome
Orphanet:98464	Orphanet:353298	\N	"" []	Orphanet:353298	"" []	220265	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Roifman syndrome
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:353298	"" []	575896	\N	\N	EFO	2	EFO	Primary bone dysplasia	Roifman syndrome
Orphanet:101977	Orphanet:331244	\N	"" []	Orphanet:353298	"" []	575897	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Roifman syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:353298	"" []	575898	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Roifman syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:353298	"" []	1158955	\N	\N	EFO	3	EFO	Rare genetic bone disease	Roifman syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:353298	"" []	1158956	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Roifman syndrome
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:353298	"" []	1158957	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Roifman syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:353298	"" []	1158958	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Roifman syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353298	"" []	2042250	\N	\N	EFO	4	EFO	genetic disorder	Roifman syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:353298	"" []	2042251	\N	\N	EFO	4	EFO	bone disease	Roifman syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:353298	"" []	2042252	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Roifman syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:353298	"" []	2042253	\N	\N	EFO	4	EFO	Primary immunodeficiency	Roifman syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:353298	"" []	2042254	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Roifman syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353298	"" []	5416084	\N	\N	EFO	7	EFO	disease	Roifman syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:353298	"" []	3192526	\N	\N	EFO	5	EFO	skeletal system disease	Roifman syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353298	"" []	3192527	\N	\N	EFO	5	EFO	genetic disorder	Roifman syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:353298	"" []	3192528	\N	\N	EFO	5	EFO	Rare genetic immune disease	Roifman syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353298	"" []	3192529	\N	\N	EFO	5	EFO	genetic disorder	Roifman syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:353298	"" []	5877437	\N	\N	EFO	8	EFO	disposition	Roifman syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353298	"" []	4398998	\N	\N	EFO	6	EFO	disease	Roifman syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353298	"" []	4399000	\N	\N	EFO	6	EFO	genetic disorder	Roifman syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:353298	"" []	4399001	\N	\N	EFO	6	EFO	immune system disease	Roifman syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:353298	"" []	6470671	\N	\N	EFO	9	EFO	material property	Roifman syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353298	"" []	5416085	\N	\N	EFO	7	EFO	disease	Roifman syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:353298	"" []	6848654	\N	\N	EFO	10	EFO	experimental factor	Roifman syndrome
Orphanet:353308	\N	\N	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	Orphanet:353308	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	76926	\N	\N	EFO	0	EFO	Pyruvate carboxylase deficiency, infantile form	Pyruvate carboxylase deficiency, infantile form
Orphanet:3008	Orphanet:353308	\N	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	Orphanet:353308	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	220266	\N	\N	EFO	1	EFO	Pyruvate carboxylase deficiency	Pyruvate carboxylase deficiency, infantile form
Orphanet:79177	Orphanet:3008	\N	"" []	Orphanet:353308	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	575899	\N	\N	EFO	2	EFO	Gluconeogenesis disorder	Pyruvate carboxylase deficiency, infantile form
Orphanet:79161	Orphanet:79177	\N	"" []	Orphanet:353308	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	1158959	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Pyruvate carboxylase deficiency, infantile form
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:353308	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	2042255	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Pyruvate carboxylase deficiency, infantile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353308	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	3192530	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate carboxylase deficiency, infantile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:353308	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	3192531	\N	\N	EFO	5	EFO	metabolic disease	Pyruvate carboxylase deficiency, infantile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353308	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	4399002	\N	\N	EFO	6	EFO	disease	Pyruvate carboxylase deficiency, infantile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353308	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	4399003	\N	\N	EFO	6	EFO	disease	Pyruvate carboxylase deficiency, infantile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:353308	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	5416086	\N	\N	EFO	7	EFO	disposition	Pyruvate carboxylase deficiency, infantile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:353308	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	6151729	\N	\N	EFO	8	EFO	material property	Pyruvate carboxylase deficiency, infantile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:353308	"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." []	6633770	\N	\N	EFO	9	EFO	experimental factor	Pyruvate carboxylase deficiency, infantile form
Orphanet:353314	\N	\N	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	Orphanet:353314	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	76927	\N	\N	EFO	0	EFO	Pyruvate carboxylase deficiency, severe neonatal type	Pyruvate carboxylase deficiency, severe neonatal type
Orphanet:3008	Orphanet:353314	\N	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	Orphanet:353314	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	220267	\N	\N	EFO	1	EFO	Pyruvate carboxylase deficiency	Pyruvate carboxylase deficiency, severe neonatal type
Orphanet:79177	Orphanet:3008	\N	"" []	Orphanet:353314	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	575900	\N	\N	EFO	2	EFO	Gluconeogenesis disorder	Pyruvate carboxylase deficiency, severe neonatal type
Orphanet:79161	Orphanet:79177	\N	"" []	Orphanet:353314	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	1158960	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Pyruvate carboxylase deficiency, severe neonatal type
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:353314	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	2042256	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Pyruvate carboxylase deficiency, severe neonatal type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353314	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	3192532	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate carboxylase deficiency, severe neonatal type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:353314	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	3192533	\N	\N	EFO	5	EFO	metabolic disease	Pyruvate carboxylase deficiency, severe neonatal type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353314	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	4399004	\N	\N	EFO	6	EFO	disease	Pyruvate carboxylase deficiency, severe neonatal type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353314	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	4399005	\N	\N	EFO	6	EFO	disease	Pyruvate carboxylase deficiency, severe neonatal type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:353314	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	5416087	\N	\N	EFO	7	EFO	disposition	Pyruvate carboxylase deficiency, severe neonatal type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:353314	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	6151730	\N	\N	EFO	8	EFO	material property	Pyruvate carboxylase deficiency, severe neonatal type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:353314	"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." []	6633771	\N	\N	EFO	9	EFO	experimental factor	Pyruvate carboxylase deficiency, severe neonatal type
Orphanet:353320	\N	\N	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	Orphanet:353320	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	76928	\N	\N	EFO	0	EFO	Pyruvate carboxylase deficiency, benign type	Pyruvate carboxylase deficiency, benign type
Orphanet:3008	Orphanet:353320	\N	"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." []	Orphanet:353320	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	220268	\N	\N	EFO	1	EFO	Pyruvate carboxylase deficiency	Pyruvate carboxylase deficiency, benign type
Orphanet:79177	Orphanet:3008	\N	"" []	Orphanet:353320	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	575901	\N	\N	EFO	2	EFO	Gluconeogenesis disorder	Pyruvate carboxylase deficiency, benign type
Orphanet:79161	Orphanet:79177	\N	"" []	Orphanet:353320	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	1158961	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Pyruvate carboxylase deficiency, benign type
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:353320	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	2042257	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Pyruvate carboxylase deficiency, benign type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353320	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	3192534	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate carboxylase deficiency, benign type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:353320	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	3192535	\N	\N	EFO	5	EFO	metabolic disease	Pyruvate carboxylase deficiency, benign type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353320	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	4399006	\N	\N	EFO	6	EFO	disease	Pyruvate carboxylase deficiency, benign type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353320	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	4399007	\N	\N	EFO	6	EFO	disease	Pyruvate carboxylase deficiency, benign type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:353320	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	5416088	\N	\N	EFO	7	EFO	disposition	Pyruvate carboxylase deficiency, benign type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:353320	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	6151731	\N	\N	EFO	8	EFO	material property	Pyruvate carboxylase deficiency, benign type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:353320	"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." []	6633772	\N	\N	EFO	9	EFO	experimental factor	Pyruvate carboxylase deficiency, benign type
Orphanet:353327	\N	\N	"" []	Orphanet:353327	"" []	76929	\N	\N	EFO	0	EFO	Congenital myasthenic syndromes with glycosylation defect	Congenital myasthenic syndromes with glycosylation defect
Orphanet:309347	Orphanet:353327	\N	"" []	Orphanet:353327	"" []	220269	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	Congenital myasthenic syndromes with glycosylation defect
Orphanet:371047	Orphanet:353327	\N	"" []	Orphanet:353327	"" []	220270	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	Congenital myasthenic syndromes with glycosylation defect
Orphanet:590	Orphanet:353327	\N	"" []	Orphanet:353327	"" []	220271	\N	\N	EFO	1	EFO	Congenital myasthenic syndromes	Congenital myasthenic syndromes with glycosylation defect
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:353327	"" []	575902	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Congenital myasthenic syndromes with glycosylation defect
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:353327	"" []	575903	\N	\N	EFO	2	EFO	Neurometabolic disease	Congenital myasthenic syndromes with glycosylation defect
Orphanet:98495	Orphanet:590	\N	"" []	Orphanet:353327	"" []	575904	\N	\N	EFO	2	EFO	Genetic neuromuscular junction disease	Congenital myasthenic syndromes with glycosylation defect
Orphanet:98578	Orphanet:590	\N	"" []	Orphanet:353327	"" []	575905	\N	\N	EFO	2	EFO	Ptosis	Congenital myasthenic syndromes with glycosylation defect
Orphanet:98690	Orphanet:590	\N	"" []	Orphanet:353327	"" []	575906	\N	\N	EFO	2	EFO	Myasthenic syndrome with eye involvement	Congenital myasthenic syndromes with glycosylation defect
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:353327	"" []	1158962	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Congenital myasthenic syndromes with glycosylation defect
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:353327	"" []	1158963	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Congenital myasthenic syndromes with glycosylation defect
Orphanet:183497	Orphanet:98495	\N	"" []	Orphanet:353327	"" []	1158964	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Congenital myasthenic syndromes with glycosylation defect
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:353327	"" []	1158965	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Congenital myasthenic syndromes with glycosylation defect
Orphanet:98689	Orphanet:98690	\N	"" []	Orphanet:353327	"" []	1158966	\N	\N	EFO	3	EFO	Myopathy with eye involvement	Congenital myasthenic syndromes with glycosylation defect
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353327	"" []	2042258	\N	\N	EFO	4	EFO	genetic disorder	Congenital myasthenic syndromes with glycosylation defect
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:353327	"" []	2042259	\N	\N	EFO	4	EFO	metabolic disease	Congenital myasthenic syndromes with glycosylation defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353327	"" []	3192539	\N	\N	EFO	5	EFO	genetic disorder	Congenital myasthenic syndromes with glycosylation defect
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:353327	"" []	2042261	\N	\N	EFO	4	EFO	muscular disease	Congenital myasthenic syndromes with glycosylation defect
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:353327	"" []	2042262	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital myasthenic syndromes with glycosylation defect
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:353327	"" []	2042263	\N	\N	EFO	4	EFO	Rare palpebral disease	Congenital myasthenic syndromes with glycosylation defect
Orphanet:183616	Orphanet:98689	\N	"" []	Orphanet:353327	"" []	2042264	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Congenital myasthenic syndromes with glycosylation defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353327	"" []	5998191	\N	\N	EFO	8	EFO	disease	Congenital myasthenic syndromes with glycosylation defect
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353327	"" []	3192537	\N	\N	EFO	5	EFO	disease	Congenital myasthenic syndromes with glycosylation defect
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:353327	"" []	3192538	\N	\N	EFO	5	EFO	skeletal system disease	Congenital myasthenic syndromes with glycosylation defect
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:353327	"" []	3192540	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital myasthenic syndromes with glycosylation defect
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:353327	"" []	3192541	\N	\N	EFO	5	EFO	Rare genetic eye disease	Congenital myasthenic syndromes with glycosylation defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:353327	"" []	6410190	\N	\N	EFO	9	EFO	disposition	Congenital myasthenic syndromes with glycosylation defect
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353327	"" []	4399009	\N	\N	EFO	6	EFO	disease	Congenital myasthenic syndromes with glycosylation defect
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:353327	"" []	4399010	\N	\N	EFO	6	EFO	Rare genetic eye disease	Congenital myasthenic syndromes with glycosylation defect
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:353327	"" []	5416090	\N	\N	EFO	7	EFO	genetic disorder	Congenital myasthenic syndromes with glycosylation defect
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:353327	"" []	5416091	\N	\N	EFO	7	EFO	eye disease	Congenital myasthenic syndromes with glycosylation defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:353327	"" []	6808023	\N	\N	EFO	10	EFO	material property	Congenital myasthenic syndromes with glycosylation defect
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:353327	"" []	5998192	\N	\N	EFO	8	EFO	disease	Congenital myasthenic syndromes with glycosylation defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:353327	"" []	7048728	\N	\N	EFO	11	EFO	experimental factor	Congenital myasthenic syndromes with glycosylation defect
Orphanet:354	\N	\N	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	76930	\N	\N	EFO	0	EFO	GM1 gangliosidosis	GM1 gangliosidosis
Orphanet:309144	Orphanet:354	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	220272	\N	\N	EFO	1	EFO	Gangliosidosis	GM1 gangliosidosis
Orphanet:68385	Orphanet:354	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	220273	\N	\N	EFO	1	EFO	Neurometabolic disease	GM1 gangliosidosis
Orphanet:93448	Orphanet:354	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	220274	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	GM1 gangliosidosis
Orphanet:98666	Orphanet:354	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	220275	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	GM1 gangliosidosis
Orphanet:98692	Orphanet:354	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	220276	\N	\N	EFO	1	EFO	Nervous system anomaly with eye involvement	GM1 gangliosidosis
Orphanet:98714	Orphanet:354	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	220277	\N	\N	EFO	1	EFO	Metabolic disease with macular cherry-red spot	GM1 gangliosidosis
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	575907	\N	\N	EFO	2	EFO	Sphingolipidosis	GM1 gangliosidosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	575908	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	GM1 gangliosidosis
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	575909	\N	\N	EFO	2	EFO	Rare genetic bone disease	GM1 gangliosidosis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	575910	\N	\N	EFO	2	EFO	Genetic macular dystrophy	GM1 gangliosidosis
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	575911	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	GM1 gangliosidosis
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	575912	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	GM1 gangliosidosis
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	1158967	\N	\N	EFO	3	EFO	Lysosomal disease	GM1 gangliosidosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	1158968	\N	\N	EFO	3	EFO	genetic disorder	GM1 gangliosidosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	1158969	\N	\N	EFO	3	EFO	genetic disorder	GM1 gangliosidosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	1158970	\N	\N	EFO	3	EFO	bone disease	GM1 gangliosidosis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	1158971	\N	\N	EFO	3	EFO	Retinal dystrophy	GM1 gangliosidosis
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	1158972	\N	\N	EFO	3	EFO	Rare genetic eye disease	GM1 gangliosidosis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	1158973	\N	\N	EFO	3	EFO	Rare genetic eye disease	GM1 gangliosidosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	2042265	\N	\N	EFO	4	EFO	Inborn errors of metabolism	GM1 gangliosidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	5060056	\N	\N	EFO	7	EFO	disease	GM1 gangliosidosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	2042267	\N	\N	EFO	4	EFO	skeletal system disease	GM1 gangliosidosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	2042268	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	GM1 gangliosidosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	4399016	\N	\N	EFO	6	EFO	genetic disorder	GM1 gangliosidosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	4399017	\N	\N	EFO	6	EFO	eye disease	GM1 gangliosidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	3192542	\N	\N	EFO	5	EFO	genetic disorder	GM1 gangliosidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	3192543	\N	\N	EFO	5	EFO	metabolic disease	GM1 gangliosidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	5817738	\N	\N	EFO	8	EFO	disposition	GM1 gangliosidosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	3192545	\N	\N	EFO	5	EFO	disease	GM1 gangliosidosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	3192546	\N	\N	EFO	5	EFO	Rare genetic eye disease	GM1 gangliosidosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	5060057	\N	\N	EFO	7	EFO	disease	GM1 gangliosidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	4399014	\N	\N	EFO	6	EFO	disease	GM1 gangliosidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	6410191	\N	\N	EFO	9	EFO	material property	GM1 gangliosidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:354	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	6808024	\N	\N	EFO	10	EFO	experimental factor	GM1 gangliosidosis
Orphanet:355	\N	\N	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	76931	\N	\N	EFO	0	EFO	Gaucher disease	Gaucher disease
Orphanet:217638	Orphanet:355	\N	"" []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	220278	\N	\N	EFO	1	EFO	Lysosomal disease with restrictive cardiomyopathy	Gaucher disease
Orphanet:79225	Orphanet:355	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	220279	\N	\N	EFO	1	EFO	Sphingolipidosis	Gaucher disease
Orphanet:98688	Orphanet:355	\N	"" []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	220280	\N	\N	EFO	1	EFO	Oculomotor apraxia or related oculomotor disease	Gaucher disease
Orphanet:98711	Orphanet:355	\N	"" []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	220281	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Gaucher disease
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	575913	\N	\N	EFO	2	EFO	Familial restrictive cardiomyopathy	Gaucher disease
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	575914	\N	\N	EFO	2	EFO	Lysosomal disease	Gaucher disease
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	575915	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Gaucher disease
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	575916	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Gaucher disease
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	1158974	\N	\N	EFO	3	EFO	cardiomyopathy	Gaucher disease
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	1158975	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Gaucher disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	1158976	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Gaucher disease
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	1158977	\N	\N	EFO	3	EFO	Rare genetic eye disease	Gaucher disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	1158978	\N	\N	EFO	3	EFO	Rare genetic eye disease	Gaucher disease
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	2042271	\N	\N	EFO	4	EFO	heart disease	Gaucher disease
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	2042272	\N	\N	EFO	4	EFO	genetic disorder	Gaucher disease
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	2042273	\N	\N	EFO	4	EFO	heart disease	Gaucher disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	2042274	\N	\N	EFO	4	EFO	genetic disorder	Gaucher disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	2042275	\N	\N	EFO	4	EFO	metabolic disease	Gaucher disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	2042276	\N	\N	EFO	4	EFO	genetic disorder	Gaucher disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	2042277	\N	\N	EFO	4	EFO	eye disease	Gaucher disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	3192549	\N	\N	EFO	5	EFO	cardiovascular disease	Gaucher disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	3192550	\N	\N	EFO	5	EFO	disease	Gaucher disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	3192551	\N	\N	EFO	5	EFO	disease	Gaucher disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	3192552	\N	\N	EFO	5	EFO	disease	Gaucher disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	4399018	\N	\N	EFO	6	EFO	disease	Gaucher disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	5416095	\N	\N	EFO	7	EFO	disposition	Gaucher disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	5998194	\N	\N	EFO	8	EFO	material property	Gaucher disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:355	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	6551449	\N	\N	EFO	9	EFO	experimental factor	Gaucher disease
Orphanet:356	\N	\N	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	76932	\N	\N	EFO	0	EFO	Gerstmann-Straussler-Scheinker syndrome	Gerstmann-Straussler-Scheinker syndrome
EFO:0000677	Orphanet:356	\N	"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)." []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	220282	\N	\N	EFO	1	EFO	mental or behavioural disorder	Gerstmann-Straussler-Scheinker syndrome
Orphanet:158124	Orphanet:356	\N	"" []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	220283	\N	\N	EFO	1	EFO	Genetic dementia	Gerstmann-Straussler-Scheinker syndrome
EFO:0005774	EFO:0000677	\N	"A disease affecting the brain or part of the brain." []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	575917	\N	\N	EFO	2	EFO	brain disease	Gerstmann-Straussler-Scheinker syndrome
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	575918	\N	\N	EFO	2	EFO	brain disease	Gerstmann-Straussler-Scheinker syndrome
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	575919	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Gerstmann-Straussler-Scheinker syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	1158979	\N	\N	EFO	3	EFO	nervous system disease	Gerstmann-Straussler-Scheinker syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	1158980	\N	\N	EFO	3	EFO	genetic disorder	Gerstmann-Straussler-Scheinker syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	2042278	\N	\N	EFO	4	EFO	disease	Gerstmann-Straussler-Scheinker syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	2042279	\N	\N	EFO	4	EFO	disease	Gerstmann-Straussler-Scheinker syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	3192553	\N	\N	EFO	5	EFO	disposition	Gerstmann-Straussler-Scheinker syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	4399020	\N	\N	EFO	6	EFO	material property	Gerstmann-Straussler-Scheinker syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:356	"A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." []	5416097	\N	\N	EFO	7	EFO	experimental factor	Gerstmann-Straussler-Scheinker syndrome
Orphanet:35612	\N	\N	"" []	Orphanet:35612	"" []	76933	\N	\N	EFO	0	EFO	Nanophthalmia	Nanophthalmia
Orphanet:2542	Orphanet:35612	\N	"" []	Orphanet:35612	"" []	220284	\N	\N	EFO	1	EFO	Isolated anophthalmia - microphthalmia	Nanophthalmia
Orphanet:108985	Orphanet:2542	\N	"" []	Orphanet:35612	"" []	575920	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Nanophthalmia
Orphanet:98555	Orphanet:2542	\N	"" []	Orphanet:35612	"" []	575921	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Nanophthalmia
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:35612	"" []	1158981	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Nanophthalmia
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:35612	"" []	1158982	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Nanophthalmia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:35612	"" []	3192557	\N	\N	EFO	5	EFO	Rare genetic eye disease	Nanophthalmia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:35612	"" []	3192558	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Nanophthalmia
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:35612	"" []	2042282	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Nanophthalmia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35612	"" []	4133974	\N	\N	EFO	6	EFO	genetic disorder	Nanophthalmia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:35612	"" []	4133975	\N	\N	EFO	6	EFO	eye disease	Nanophthalmia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35612	"" []	4133976	\N	\N	EFO	6	EFO	genetic disorder	Nanophthalmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35612	"" []	5182812	\N	\N	EFO	7	EFO	disease	Nanophthalmia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35612	"" []	5182813	\N	\N	EFO	7	EFO	disease	Nanophthalmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35612	"" []	5998195	\N	\N	EFO	8	EFO	disposition	Nanophthalmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35612	"" []	6551450	\N	\N	EFO	9	EFO	material property	Nanophthalmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35612	"" []	6889441	\N	\N	EFO	10	EFO	experimental factor	Nanophthalmia
Orphanet:35656	\N	\N	"" []	Orphanet:35656	"" []	76934	\N	\N	EFO	0	EFO	Coenzyme Q10 deficiency	Coenzyme Q10 deficiency
Orphanet:225703	Orphanet:35656	\N	"" []	Orphanet:35656	"" []	220285	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	Coenzyme Q10 deficiency
Orphanet:2443	Orphanet:35656	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:35656	"" []	220286	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Coenzyme Q10 deficiency
Orphanet:68385	Orphanet:35656	\N	"" []	Orphanet:35656	"" []	220287	\N	\N	EFO	1	EFO	Neurometabolic disease	Coenzyme Q10 deficiency
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:35656	"" []	575922	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Coenzyme Q10 deficiency
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:35656	"" []	575923	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Coenzyme Q10 deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:35656	"" []	575924	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Coenzyme Q10 deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:35656	"" []	1158983	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Coenzyme Q10 deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:35656	"" []	1158984	\N	\N	EFO	3	EFO	Mitochondrial disease	Coenzyme Q10 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35656	"" []	4399023	\N	\N	EFO	6	EFO	genetic disorder	Coenzyme Q10 deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:35656	"" []	2042283	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Coenzyme Q10 deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:35656	"" []	2042284	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Coenzyme Q10 deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:35656	"" []	2042285	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Coenzyme Q10 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35656	"" []	5028444	\N	\N	EFO	7	EFO	disease	Coenzyme Q10 deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:35656	"" []	3192559	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Coenzyme Q10 deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:35656	"" []	3192560	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Coenzyme Q10 deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:35656	"" []	3192561	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Coenzyme Q10 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35656	"" []	5817739	\N	\N	EFO	8	EFO	disposition	Coenzyme Q10 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35656	"" []	4399024	\N	\N	EFO	6	EFO	genetic disorder	Coenzyme Q10 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35656	"" []	4399025	\N	\N	EFO	6	EFO	genetic disorder	Coenzyme Q10 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35656	"" []	4399026	\N	\N	EFO	6	EFO	metabolic disease	Coenzyme Q10 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35656	"" []	6410192	\N	\N	EFO	9	EFO	material property	Coenzyme Q10 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35656	"" []	5416099	\N	\N	EFO	7	EFO	disease	Coenzyme Q10 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35656	"" []	6808025	\N	\N	EFO	10	EFO	experimental factor	Coenzyme Q10 deficiency
Orphanet:35664	\N	\N	"" []	Orphanet:35664	"" []	76935	\N	\N	EFO	0	EFO	ALDH18A1-related De Barsy syndrome	ALDH18A1-related De Barsy syndrome
Orphanet:2962	Orphanet:35664	\N	"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." []	Orphanet:35664	"" []	220288	\N	\N	EFO	1	EFO	De Barsy syndrome	ALDH18A1-related De Barsy syndrome
Orphanet:207018	Orphanet:2962	\N	"" []	Orphanet:35664	"" []	575925	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	ALDH18A1-related De Barsy syndrome
Orphanet:209	Orphanet:2962	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:35664	"" []	575926	\N	\N	EFO	2	EFO	Cutis laxa	ALDH18A1-related De Barsy syndrome
Orphanet:289866	Orphanet:2962	\N	"" []	Orphanet:35664	"" []	575927	\N	\N	EFO	2	EFO	Disorder of proline metabolism	ALDH18A1-related De Barsy syndrome
Orphanet:68385	Orphanet:2962	\N	"" []	Orphanet:35664	"" []	575928	\N	\N	EFO	2	EFO	Neurometabolic disease	ALDH18A1-related De Barsy syndrome
Orphanet:79389	Orphanet:2962	\N	"" []	Orphanet:35664	"" []	575929	\N	\N	EFO	2	EFO	Premature aging	ALDH18A1-related De Barsy syndrome
Orphanet:98628	Orphanet:2962	\N	"" []	Orphanet:35664	"" []	575930	\N	\N	EFO	2	EFO	Syndromic corneal dystrophy	ALDH18A1-related De Barsy syndrome
Orphanet:98644	Orphanet:2962	\N	"" []	Orphanet:35664	"" []	575931	\N	\N	EFO	2	EFO	Cataract associated with a metabolic disease	ALDH18A1-related De Barsy syndrome
Orphanet:98712	Orphanet:2962	\N	"" []	Orphanet:35664	"" []	575932	\N	\N	EFO	2	EFO	Metabolic disease with cataract	ALDH18A1-related De Barsy syndrome
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:35664	"" []	1158986	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	ALDH18A1-related De Barsy syndrome
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:35664	"" []	1158987	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	ALDH18A1-related De Barsy syndrome
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:35664	"" []	1158988	\N	\N	EFO	3	EFO	Malformation syndrome with connective tissue involvement	ALDH18A1-related De Barsy syndrome
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:35664	"" []	1158989	\N	\N	EFO	3	EFO	Genetic dermis elastic tissue disorder	ALDH18A1-related De Barsy syndrome
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:35664	"" []	1158990	\N	\N	EFO	3	EFO	Congenital entropion	ALDH18A1-related De Barsy syndrome
Orphanet:79185	Orphanet:289866	\N	"" []	Orphanet:35664	"" []	1158991	\N	\N	EFO	3	EFO	Disorder of ornithine or proline metabolism	ALDH18A1-related De Barsy syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:35664	"" []	1158992	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	ALDH18A1-related De Barsy syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:35664	"" []	1158993	\N	\N	EFO	3	EFO	Rare genetic skin disease	ALDH18A1-related De Barsy syndrome
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:35664	"" []	1158994	\N	\N	EFO	3	EFO	Corneal dystrophy	ALDH18A1-related De Barsy syndrome
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:35664	"" []	1158995	\N	\N	EFO	3	EFO	Systemic disease with cataract	ALDH18A1-related De Barsy syndrome
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:35664	"" []	1158996	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	ALDH18A1-related De Barsy syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:35664	"" []	2042287	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	ALDH18A1-related De Barsy syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:35664	"" []	2042288	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	ALDH18A1-related De Barsy syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:35664	"" []	2042289	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	ALDH18A1-related De Barsy syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:35664	"" []	2042290	\N	\N	EFO	4	EFO	Genetic dermis disorder	ALDH18A1-related De Barsy syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:35664	"" []	2042291	\N	\N	EFO	4	EFO	Eyelids malposition disorder	ALDH18A1-related De Barsy syndrome
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:35664	"" []	2042292	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	ALDH18A1-related De Barsy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35664	"" []	4399028	\N	\N	EFO	6	EFO	genetic disorder	ALDH18A1-related De Barsy syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35664	"" []	4399030	\N	\N	EFO	6	EFO	genetic disorder	ALDH18A1-related De Barsy syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:35664	"" []	4399031	\N	\N	EFO	6	EFO	skin disease	ALDH18A1-related De Barsy syndrome
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:35664	"" []	2042296	\N	\N	EFO	4	EFO	Rare genetic eye disease	ALDH18A1-related De Barsy syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:35664	"" []	2042297	\N	\N	EFO	4	EFO	Syndromic cataract	ALDH18A1-related De Barsy syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:35664	"" []	2042298	\N	\N	EFO	4	EFO	Rare genetic eye disease	ALDH18A1-related De Barsy syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:35664	"" []	3192563	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	ALDH18A1-related De Barsy syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35664	"" []	3192564	\N	\N	EFO	5	EFO	genetic disorder	ALDH18A1-related De Barsy syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:35664	"" []	3192565	\N	\N	EFO	5	EFO	Rare genetic skin disease	ALDH18A1-related De Barsy syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:35664	"" []	3192566	\N	\N	EFO	5	EFO	Rare palpebral disease	ALDH18A1-related De Barsy syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:35664	"" []	3192567	\N	\N	EFO	5	EFO	Inborn errors of metabolism	ALDH18A1-related De Barsy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35664	"" []	6410193	\N	\N	EFO	9	EFO	disease	ALDH18A1-related De Barsy syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35664	"" []	5060059	\N	\N	EFO	7	EFO	disease	ALDH18A1-related De Barsy syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35664	"" []	6151735	\N	\N	EFO	8	EFO	genetic disorder	ALDH18A1-related De Barsy syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:35664	"" []	6151736	\N	\N	EFO	8	EFO	eye disease	ALDH18A1-related De Barsy syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:35664	"" []	3192572	\N	\N	EFO	5	EFO	Rare cataract	ALDH18A1-related De Barsy syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:35664	"" []	4399032	\N	\N	EFO	6	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	ALDH18A1-related De Barsy syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35664	"" []	4399033	\N	\N	EFO	6	EFO	genetic disorder	ALDH18A1-related De Barsy syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35664	"" []	4399034	\N	\N	EFO	6	EFO	metabolic disease	ALDH18A1-related De Barsy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35664	"" []	6778764	\N	\N	EFO	10	EFO	disposition	ALDH18A1-related De Barsy syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35664	"" []	6410194	\N	\N	EFO	9	EFO	disease	ALDH18A1-related De Barsy syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:35664	"" []	4399037	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	ALDH18A1-related De Barsy syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:35664	"" []	5416101	\N	\N	EFO	7	EFO	Rare genetic eye disease	ALDH18A1-related De Barsy syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35664	"" []	5416102	\N	\N	EFO	7	EFO	disease	ALDH18A1-related De Barsy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35664	"" []	7029960	\N	\N	EFO	11	EFO	material property	ALDH18A1-related De Barsy syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:35664	"" []	5416104	\N	\N	EFO	7	EFO	Rare genetic eye disease	ALDH18A1-related De Barsy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35664	"" []	7181806	\N	\N	EFO	12	EFO	experimental factor	ALDH18A1-related De Barsy syndrome
Orphanet:35688	\N	\N	"" []	Orphanet:35688	"" []	76936	\N	\N	EFO	0	EFO	Madelung deformity	Madelung deformity
Orphanet:294949	Orphanet:35688	\N	"" []	Orphanet:35688	"" []	220289	\N	\N	EFO	1	EFO	Joint formation defects	Madelung deformity
Orphanet:93438	Orphanet:35688	\N	"" []	Orphanet:35688	"" []	220290	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Madelung deformity
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:35688	"" []	575933	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Madelung deformity
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:35688	"" []	575934	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Madelung deformity
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:35688	"" []	575935	\N	\N	EFO	2	EFO	Primary bone dysplasia	Madelung deformity
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:35688	"" []	1158997	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Madelung deformity
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:35688	"" []	1158998	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Madelung deformity
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:35688	"" []	1158999	\N	\N	EFO	3	EFO	Rare genetic bone disease	Madelung deformity
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:35688	"" []	1159000	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Madelung deformity
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:35688	"" []	2042299	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Madelung deformity
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:35688	"" []	2042300	\N	\N	EFO	4	EFO	Rare genetic bone disease	Madelung deformity
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:35688	"" []	2042301	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Madelung deformity
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35688	"" []	3192574	\N	\N	EFO	5	EFO	genetic disorder	Madelung deformity
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:35688	"" []	3192575	\N	\N	EFO	5	EFO	bone disease	Madelung deformity
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:35688	"" []	3192576	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Madelung deformity
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35688	"" []	4133979	\N	\N	EFO	6	EFO	genetic disorder	Madelung deformity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35688	"" []	5182815	\N	\N	EFO	7	EFO	disease	Madelung deformity
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:35688	"" []	4133978	\N	\N	EFO	6	EFO	skeletal system disease	Madelung deformity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35688	"" []	5877441	\N	\N	EFO	8	EFO	disposition	Madelung deformity
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35688	"" []	5182817	\N	\N	EFO	7	EFO	disease	Madelung deformity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35688	"" []	6470675	\N	\N	EFO	9	EFO	material property	Madelung deformity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35688	"" []	6848657	\N	\N	EFO	10	EFO	experimental factor	Madelung deformity
Orphanet:35689	\N	\N	"" []	Orphanet:35689	"" []	76937	\N	\N	EFO	0	EFO	Primary lateral sclerosis	Primary lateral sclerosis
Orphanet:183500	Orphanet:35689	\N	"" []	Orphanet:35689	"" []	220291	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Primary lateral sclerosis
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:35689	"" []	575936	\N	\N	EFO	2	EFO	neurodegenerative disease	Primary lateral sclerosis
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:35689	"" []	575937	\N	\N	EFO	2	EFO	brain disease	Primary lateral sclerosis
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:35689	"" []	575938	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Primary lateral sclerosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:35689	"" []	1159001	\N	\N	EFO	3	EFO	nervous system disease	Primary lateral sclerosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:35689	"" []	1159002	\N	\N	EFO	3	EFO	nervous system disease	Primary lateral sclerosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35689	"" []	1159003	\N	\N	EFO	3	EFO	genetic disorder	Primary lateral sclerosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35689	"" []	2042305	\N	\N	EFO	4	EFO	disease	Primary lateral sclerosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35689	"" []	2042306	\N	\N	EFO	4	EFO	disease	Primary lateral sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35689	"" []	3192579	\N	\N	EFO	5	EFO	disposition	Primary lateral sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35689	"" []	4399040	\N	\N	EFO	6	EFO	material property	Primary lateral sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35689	"" []	5416106	\N	\N	EFO	7	EFO	experimental factor	Primary lateral sclerosis
Orphanet:356947	\N	\N	"" []	Orphanet:356947	"" []	76938	\N	\N	EFO	0	EFO	3q26q27 microdeletion syndrome	3q26q27 microdeletion syndrome
Orphanet:262019	Orphanet:356947	\N	"" []	Orphanet:356947	"" []	220292	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 3	3q26q27 microdeletion syndrome
Orphanet:261776	Orphanet:262019	\N	"" []	Orphanet:356947	"" []	575939	\N	\N	EFO	2	EFO	Partial deletion of chromosome 3	3q26q27 microdeletion syndrome
Orphanet:98142	Orphanet:261776	\N	"" []	Orphanet:356947	"" []	1159004	\N	\N	EFO	3	EFO	Partial autosomal monosomy	3q26q27 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:356947	"" []	2042307	\N	\N	EFO	4	EFO	Autosomal monosomy	3q26q27 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:356947	"" []	3192580	\N	\N	EFO	5	EFO	Autosomal anomaly	3q26q27 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:356947	"" []	4399041	\N	\N	EFO	6	EFO	Chromosomal anomaly	3q26q27 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:356947	"" []	5416107	\N	\N	EFO	7	EFO	genetic disorder	3q26q27 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:356947	"" []	6151739	\N	\N	EFO	8	EFO	disease	3q26q27 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:356947	"" []	6633774	\N	\N	EFO	9	EFO	disposition	3q26q27 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:356947	"" []	6926121	\N	\N	EFO	10	EFO	material property	3q26q27 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:356947	"" []	7099283	\N	\N	EFO	11	EFO	experimental factor	3q26q27 microdeletion syndrome
Orphanet:35696	\N	\N	"" []	Orphanet:35696	"" []	76939	\N	\N	EFO	0	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:35696	"" []	220293	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:35696	"" []	575940	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:35696	"" []	1159005	\N	\N	EFO	3	EFO	Mitochondrial disease	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:35696	"" []	2042308	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:35696	"" []	2042309	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:35696	"" []	3192581	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:35696	"" []	3192582	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35696	"" []	4399042	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35696	"" []	4399043	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35696	"" []	4399044	\N	\N	EFO	6	EFO	metabolic disease	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35696	"" []	5416108	\N	\N	EFO	7	EFO	disease	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35696	"" []	5416109	\N	\N	EFO	7	EFO	disease	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35696	"" []	6151740	\N	\N	EFO	8	EFO	disposition	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35696	"" []	6633775	\N	\N	EFO	9	EFO	material property	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35696	"" []	6926122	\N	\N	EFO	10	EFO	experimental factor	Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Orphanet:356961	\N	\N	"" []	Orphanet:356961	"" []	76940	\N	\N	EFO	0	EFO	SLC35A2-CDG	SLC35A2-CDG
Orphanet:269564	Orphanet:356961	\N	"" []	Orphanet:356961	"" []	220294	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	SLC35A2-CDG
Orphanet:309526	Orphanet:356961	\N	"" []	Orphanet:356961	"" []	220295	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	SLC35A2-CDG
Orphanet:371054	Orphanet:356961	\N	"" []	Orphanet:356961	"" []	220296	\N	\N	EFO	1	EFO	X-linked congenital disorder of glycosylation with intellectual disability as a major feature	SLC35A2-CDG
Orphanet:371064	Orphanet:356961	\N	"" []	Orphanet:356961	"" []	220297	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	SLC35A2-CDG
Orphanet:371071	Orphanet:356961	\N	"" []	Orphanet:356961	"" []	220298	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	SLC35A2-CDG
Orphanet:371235	Orphanet:356961	\N	"" []	Orphanet:356961	"" []	220299	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with developmental anomaly	SLC35A2-CDG
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:356961	"" []	575941	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	SLC35A2-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:356961	"" []	575942	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	SLC35A2-CDG
Orphanet:182076	Orphanet:371054	\N	"" []	Orphanet:356961	"" []	575943	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	SLC35A2-CDG
Orphanet:371047	Orphanet:371054	\N	"" []	Orphanet:356961	"" []	575944	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	SLC35A2-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:356961	"" []	575945	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	SLC35A2-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:356961	"" []	575946	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	SLC35A2-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:356961	"" []	575947	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	SLC35A2-CDG
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:356961	"" []	575948	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	SLC35A2-CDG
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:356961	"" []	1159006	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	SLC35A2-CDG
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:356961	"" []	1159007	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	SLC35A2-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:356961	"" []	1159008	\N	\N	EFO	3	EFO	Inborn errors of metabolism	SLC35A2-CDG
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:356961	"" []	1159009	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	SLC35A2-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:356961	"" []	1159010	\N	\N	EFO	3	EFO	Neurometabolic disease	SLC35A2-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:356961	"" []	1159011	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	SLC35A2-CDG
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:356961	"" []	1159012	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	SLC35A2-CDG
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:356961	"" []	2042310	\N	\N	EFO	4	EFO	genetic disorder	SLC35A2-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:356961	"" []	5182819	\N	\N	EFO	7	EFO	genetic disorder	SLC35A2-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:356961	"" []	2042312	\N	\N	EFO	4	EFO	genetic disorder	SLC35A2-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:356961	"" []	2042313	\N	\N	EFO	4	EFO	metabolic disease	SLC35A2-CDG
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:356961	"" []	2042314	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	SLC35A2-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:356961	"" []	2042315	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	SLC35A2-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:356961	"" []	3192585	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	SLC35A2-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:356961	"" []	5817740	\N	\N	EFO	8	EFO	disease	SLC35A2-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:356961	"" []	3192584	\N	\N	EFO	5	EFO	disease	SLC35A2-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:356961	"" []	4133981	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	SLC35A2-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:356961	"" []	6410195	\N	\N	EFO	9	EFO	disposition	SLC35A2-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:356961	"" []	6808026	\N	\N	EFO	10	EFO	material property	SLC35A2-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:356961	"" []	7048729	\N	\N	EFO	11	EFO	experimental factor	SLC35A2-CDG
Orphanet:356978	\N	\N	"" []	Orphanet:356978	"" []	76941	\N	\N	EFO	0	EFO	D,L-2-hydroxyglutaric aciduria	D,L-2-hydroxyglutaric aciduria
Orphanet:19	Orphanet:356978	\N	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	Orphanet:356978	"" []	220300	\N	\N	EFO	1	EFO	2-hydroxyglutaric aciduria	D,L-2-hydroxyglutaric aciduria
Orphanet:68385	Orphanet:19	\N	"" []	Orphanet:356978	"" []	575949	\N	\N	EFO	2	EFO	Neurometabolic disease	D,L-2-hydroxyglutaric aciduria
Orphanet:79158	Orphanet:19	\N	"" []	Orphanet:356978	"" []	575950	\N	\N	EFO	2	EFO	Cerebral organic aciduria	D,L-2-hydroxyglutaric aciduria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:356978	"" []	1159013	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	D,L-2-hydroxyglutaric aciduria
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:356978	"" []	1159014	\N	\N	EFO	3	EFO	Organic aciduria	D,L-2-hydroxyglutaric aciduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:356978	"" []	2042317	\N	\N	EFO	4	EFO	genetic disorder	D,L-2-hydroxyglutaric aciduria
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:356978	"" []	2042318	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	D,L-2-hydroxyglutaric aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:356978	"" []	5416112	\N	\N	EFO	7	EFO	disease	D,L-2-hydroxyglutaric aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:356978	"" []	3192589	\N	\N	EFO	5	EFO	Inborn errors of metabolism	D,L-2-hydroxyglutaric aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:356978	"" []	5877443	\N	\N	EFO	8	EFO	disposition	D,L-2-hydroxyglutaric aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:356978	"" []	4399048	\N	\N	EFO	6	EFO	genetic disorder	D,L-2-hydroxyglutaric aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:356978	"" []	4399049	\N	\N	EFO	6	EFO	metabolic disease	D,L-2-hydroxyglutaric aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:356978	"" []	6470677	\N	\N	EFO	9	EFO	material property	D,L-2-hydroxyglutaric aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:356978	"" []	5416113	\N	\N	EFO	7	EFO	disease	D,L-2-hydroxyglutaric aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:356978	"" []	6848659	\N	\N	EFO	10	EFO	experimental factor	D,L-2-hydroxyglutaric aciduria
Orphanet:35698	\N	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	76942	\N	\N	EFO	0	EFO	Mitochondrial DNA depletion syndrome	Mitochondrial DNA depletion syndrome
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	220301	\N	\N	EFO	1	EFO	Metabolic disease with intestinal involvement	Mitochondrial DNA depletion syndrome
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	220302	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Mitochondrial DNA depletion syndrome
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	220303	\N	\N	EFO	1	EFO	Mitochondrial DNA maintenance syndrome	Mitochondrial DNA depletion syndrome
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	220304	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	Mitochondrial DNA depletion syndrome
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	575951	\N	\N	EFO	2	EFO	Genetic intestinal disease	Mitochondrial DNA depletion syndrome
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	575952	\N	\N	EFO	2	EFO	Muscular lipidosis	Mitochondrial DNA depletion syndrome
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	575953	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial DNA depletion syndrome
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	575954	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Mitochondrial DNA depletion syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	1159015	\N	\N	EFO	3	EFO	digestive system disease	Mitochondrial DNA depletion syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	1159016	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Mitochondrial DNA depletion syndrome
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	1159017	\N	\N	EFO	3	EFO	Metabolic myopathy	Mitochondrial DNA depletion syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	1159018	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial DNA depletion syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	1159019	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mitochondrial DNA depletion syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	2042319	\N	\N	EFO	4	EFO	disease	Mitochondrial DNA depletion syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	2042320	\N	\N	EFO	4	EFO	genetic disorder	Mitochondrial DNA depletion syndrome
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	2042321	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Mitochondrial DNA depletion syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	2042322	\N	\N	EFO	4	EFO	Mitochondrial disease	Mitochondrial DNA depletion syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	2042323	\N	\N	EFO	4	EFO	genetic disorder	Mitochondrial DNA depletion syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	2042324	\N	\N	EFO	4	EFO	eye disease	Mitochondrial DNA depletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	6778766	\N	\N	EFO	10	EFO	disposition	Mitochondrial DNA depletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	6633777	\N	\N	EFO	9	EFO	disease	Mitochondrial DNA depletion syndrome
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	3192592	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Mitochondrial DNA depletion syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	3192593	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Mitochondrial DNA depletion syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	3192594	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Mitochondrial DNA depletion syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	3192595	\N	\N	EFO	5	EFO	disease	Mitochondrial DNA depletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	7015700	\N	\N	EFO	11	EFO	material property	Mitochondrial DNA depletion syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	4399052	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Mitochondrial DNA depletion syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	4399053	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial DNA depletion syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	4399054	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Mitochondrial DNA depletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	7173648	\N	\N	EFO	12	EFO	experimental factor	Mitochondrial DNA depletion syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	5416115	\N	\N	EFO	7	EFO	muscular disease	Mitochondrial DNA depletion syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	5416116	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	5416117	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial DNA depletion syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	5416118	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial DNA depletion syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	5416119	\N	\N	EFO	7	EFO	metabolic disease	Mitochondrial DNA depletion syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	6151743	\N	\N	EFO	8	EFO	skeletal system disease	Mitochondrial DNA depletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	6151744	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial DNA depletion syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	6151746	\N	\N	EFO	8	EFO	disease	Mitochondrial DNA depletion syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35698	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	6633776	\N	\N	EFO	9	EFO	disease	Mitochondrial DNA depletion syndrome
Orphanet:356996	\N	\N	"" []	Orphanet:356996	"" []	76943	\N	\N	EFO	0	EFO	Intellectual disability - hypotonia - spasticity - sleep disorder	Intellectual disability - hypotonia - spasticity - sleep disorder
Orphanet:183763	Orphanet:356996	\N	"" []	Orphanet:356996	"" []	220305	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability - hypotonia - spasticity - sleep disorder
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:356996	"" []	575955	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability - hypotonia - spasticity - sleep disorder
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:356996	"" []	1159020	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability - hypotonia - spasticity - sleep disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:356996	"" []	2042325	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability - hypotonia - spasticity - sleep disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:356996	"" []	3192596	\N	\N	EFO	5	EFO	disease	Intellectual disability - hypotonia - spasticity - sleep disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:356996	"" []	4399055	\N	\N	EFO	6	EFO	disposition	Intellectual disability - hypotonia - spasticity - sleep disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:356996	"" []	5416120	\N	\N	EFO	7	EFO	material property	Intellectual disability - hypotonia - spasticity - sleep disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:356996	"" []	6151747	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability - hypotonia - spasticity - sleep disorder
Orphanet:357001	\N	\N	"" []	Orphanet:357001	"" []	76944	\N	\N	EFO	0	EFO	19p13.13 microdeletion syndrome	19p13.13 microdeletion syndrome
Orphanet:102283	Orphanet:357001	\N	"" []	Orphanet:357001	"" []	220306	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	19p13.13 microdeletion syndrome
Orphanet:183763	Orphanet:357001	\N	"" []	Orphanet:357001	"" []	220307	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	19p13.13 microdeletion syndrome
Orphanet:261983	Orphanet:357001	\N	"" []	Orphanet:357001	"" []	220308	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 19	19p13.13 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:357001	"" []	575956	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	19p13.13 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:357001	"" []	575957	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	19p13.13 microdeletion syndrome
Orphanet:261841	Orphanet:261983	\N	"" []	Orphanet:357001	"" []	575958	\N	\N	EFO	2	EFO	Partial deletion of chromosome 19	19p13.13 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:357001	"" []	1159021	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	19p13.13 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:357001	"" []	1159022	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	19p13.13 microdeletion syndrome
Orphanet:98142	Orphanet:261841	\N	"" []	Orphanet:357001	"" []	1159023	\N	\N	EFO	3	EFO	Partial autosomal monosomy	19p13.13 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357001	"" []	2042326	\N	\N	EFO	4	EFO	genetic disorder	19p13.13 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357001	"" []	2042327	\N	\N	EFO	4	EFO	genetic disorder	19p13.13 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:357001	"" []	2042328	\N	\N	EFO	4	EFO	Autosomal monosomy	19p13.13 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357001	"" []	6151749	\N	\N	EFO	8	EFO	disease	19p13.13 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:357001	"" []	3192598	\N	\N	EFO	5	EFO	Autosomal anomaly	19p13.13 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357001	"" []	6410197	\N	\N	EFO	9	EFO	disposition	19p13.13 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:357001	"" []	4399057	\N	\N	EFO	6	EFO	Chromosomal anomaly	19p13.13 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357001	"" []	6808027	\N	\N	EFO	10	EFO	material property	19p13.13 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357001	"" []	5416122	\N	\N	EFO	7	EFO	genetic disorder	19p13.13 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357001	"" []	7048730	\N	\N	EFO	11	EFO	experimental factor	19p13.13 microdeletion syndrome
Orphanet:357008	\N	\N	"" []	Orphanet:357008	"" []	76945	\N	\N	EFO	0	EFO	Atypical hemolytic-uremic syndrome with DGKE deficiency	Atypical hemolytic-uremic syndrome with DGKE deficiency
Orphanet:2134	Orphanet:357008	\N	"" []	Orphanet:357008	"" []	220309	\N	\N	EFO	1	EFO	Atypical hemolytic-uremic syndrome	Atypical hemolytic-uremic syndrome with DGKE deficiency
Orphanet:182043	Orphanet:2134	\N	"" []	Orphanet:357008	"" []	575959	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Atypical hemolytic-uremic syndrome with DGKE deficiency
Orphanet:183589	Orphanet:2134	\N	"" []	Orphanet:357008	"" []	575960	\N	\N	EFO	2	EFO	Genetic thrombotic microangiopathy	Atypical hemolytic-uremic syndrome with DGKE deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:357008	"" []	1159024	\N	\N	EFO	3	EFO	Rare constitutional anemia	Atypical hemolytic-uremic syndrome with DGKE deficiency
Orphanet:98056	Orphanet:183589	\N	"" []	Orphanet:357008	"" []	1159025	\N	\N	EFO	3	EFO	Rare genetic renal disease	Atypical hemolytic-uremic syndrome with DGKE deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:357008	"" []	2042329	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Atypical hemolytic-uremic syndrome with DGKE deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357008	"" []	2042330	\N	\N	EFO	4	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with DGKE deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357008	"" []	3192599	\N	\N	EFO	5	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with DGKE deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:357008	"" []	3192600	\N	\N	EFO	5	EFO	hematological system disease	Atypical hemolytic-uremic syndrome with DGKE deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357008	"" []	4399058	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with DGKE deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357008	"" []	4399059	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with DGKE deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357008	"" []	5182821	\N	\N	EFO	7	EFO	disposition	Atypical hemolytic-uremic syndrome with DGKE deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357008	"" []	5998200	\N	\N	EFO	8	EFO	material property	Atypical hemolytic-uremic syndrome with DGKE deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357008	"" []	6551454	\N	\N	EFO	9	EFO	experimental factor	Atypical hemolytic-uremic syndrome with DGKE deficiency
Orphanet:35701	\N	\N	"" []	Orphanet:35701	"" []	76946	\N	\N	EFO	0	EFO	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Orphanet:79183	Orphanet:35701	\N	"" []	Orphanet:35701	"" []	220310	\N	\N	EFO	1	EFO	Disorder of ketone body metabolism	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Orphanet:79174	Orphanet:79183	\N	"" []	Orphanet:35701	"" []	575961	\N	\N	EFO	2	EFO	Disorder of fatty acid oxidation and ketone body metabolism	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:35701	"" []	1159026	\N	\N	EFO	3	EFO	Disorder of energy metabolism	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:35701	"" []	2042331	\N	\N	EFO	4	EFO	Inborn errors of metabolism	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35701	"" []	3192602	\N	\N	EFO	5	EFO	genetic disorder	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35701	"" []	3192603	\N	\N	EFO	5	EFO	metabolic disease	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35701	"" []	4399061	\N	\N	EFO	6	EFO	disease	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35701	"" []	4399062	\N	\N	EFO	6	EFO	disease	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35701	"" []	5416124	\N	\N	EFO	7	EFO	disposition	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35701	"" []	6151751	\N	\N	EFO	8	EFO	material property	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35701	"" []	6633778	\N	\N	EFO	9	EFO	experimental factor	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Orphanet:357027	\N	\N	"" []	Orphanet:357027	"" []	76947	\N	\N	EFO	0	EFO	Familial retinoblastoma	Familial retinoblastoma
Orphanet:140162	Orphanet:357027	\N	"" []	Orphanet:357027	"" []	220311	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Familial retinoblastoma
Orphanet:790	Orphanet:357027	\N	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	Orphanet:357027	"" []	220312	\N	\N	EFO	1	EFO	Retinoblastoma	Familial retinoblastoma
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357027	"" []	575962	\N	\N	EFO	2	EFO	genetic disorder	Familial retinoblastoma
EFO:0003824	Orphanet:790	\N	"Tumors or cancer of the EYE." []	Orphanet:357027	"" []	575963	\N	\N	EFO	2	EFO	eye neoplasm	Familial retinoblastoma
Orphanet:183619	Orphanet:790	\N	"" []	Orphanet:357027	"" []	575964	\N	\N	EFO	2	EFO	Genetic eye tumor	Familial retinoblastoma
Orphanet:98657	Orphanet:790	\N	"" []	Orphanet:357027	"" []	575965	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Familial retinoblastoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357027	"" []	3192606	\N	\N	EFO	5	EFO	disease	Familial retinoblastoma
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:357027	"" []	1159028	\N	\N	EFO	3	EFO	neoplasm	Familial retinoblastoma
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:357027	"" []	1159029	\N	\N	EFO	3	EFO	eye disease	Familial retinoblastoma
EFO:0003966	Orphanet:183619	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:357027	"" []	1159030	\N	\N	EFO	3	EFO	eye disease	Familial retinoblastoma
Orphanet:68336	Orphanet:183619	\N	"" []	Orphanet:357027	"" []	1159031	\N	\N	EFO	3	EFO	Rare genetic tumor	Familial retinoblastoma
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:357027	"" []	1159032	\N	\N	EFO	3	EFO	Rare genetic eye disease	Familial retinoblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357027	"" []	4066946	\N	\N	EFO	6	EFO	disposition	Familial retinoblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357027	"" []	3192607	\N	\N	EFO	5	EFO	disease	Familial retinoblastoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357027	"" []	3192608	\N	\N	EFO	5	EFO	disease	Familial retinoblastoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357027	"" []	2042335	\N	\N	EFO	4	EFO	genetic disorder	Familial retinoblastoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:357027	"" []	2042336	\N	\N	EFO	4	EFO	neoplasm	Familial retinoblastoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357027	"" []	2042337	\N	\N	EFO	4	EFO	genetic disorder	Familial retinoblastoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:357027	"" []	2042338	\N	\N	EFO	4	EFO	eye disease	Familial retinoblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357027	"" []	5060061	\N	\N	EFO	7	EFO	material property	Familial retinoblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357027	"" []	5877444	\N	\N	EFO	8	EFO	experimental factor	Familial retinoblastoma
Orphanet:357034	\N	\N	"" []	Orphanet:357034	"" []	76948	\N	\N	EFO	0	EFO	Unilateral retinoblastoma	Unilateral retinoblastoma
Orphanet:790	Orphanet:357034	\N	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	Orphanet:357034	"" []	220313	\N	\N	EFO	1	EFO	Retinoblastoma	Unilateral retinoblastoma
EFO:0003824	Orphanet:790	\N	"Tumors or cancer of the EYE." []	Orphanet:357034	"" []	575966	\N	\N	EFO	2	EFO	eye neoplasm	Unilateral retinoblastoma
Orphanet:183619	Orphanet:790	\N	"" []	Orphanet:357034	"" []	575967	\N	\N	EFO	2	EFO	Genetic eye tumor	Unilateral retinoblastoma
Orphanet:98657	Orphanet:790	\N	"" []	Orphanet:357034	"" []	575968	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Unilateral retinoblastoma
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:357034	"" []	1159033	\N	\N	EFO	3	EFO	neoplasm	Unilateral retinoblastoma
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:357034	"" []	1159034	\N	\N	EFO	3	EFO	eye disease	Unilateral retinoblastoma
EFO:0003966	Orphanet:183619	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:357034	"" []	1159035	\N	\N	EFO	3	EFO	eye disease	Unilateral retinoblastoma
Orphanet:68336	Orphanet:183619	\N	"" []	Orphanet:357034	"" []	1159036	\N	\N	EFO	3	EFO	Rare genetic tumor	Unilateral retinoblastoma
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:357034	"" []	1159037	\N	\N	EFO	3	EFO	Rare genetic eye disease	Unilateral retinoblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357034	"" []	3192611	\N	\N	EFO	5	EFO	disease	Unilateral retinoblastoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357034	"" []	3192612	\N	\N	EFO	5	EFO	disease	Unilateral retinoblastoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357034	"" []	2042341	\N	\N	EFO	4	EFO	genetic disorder	Unilateral retinoblastoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:357034	"" []	2042342	\N	\N	EFO	4	EFO	neoplasm	Unilateral retinoblastoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357034	"" []	2042343	\N	\N	EFO	4	EFO	genetic disorder	Unilateral retinoblastoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:357034	"" []	2042344	\N	\N	EFO	4	EFO	eye disease	Unilateral retinoblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357034	"" []	4133983	\N	\N	EFO	6	EFO	disposition	Unilateral retinoblastoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357034	"" []	3192610	\N	\N	EFO	5	EFO	disease	Unilateral retinoblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357034	"" []	5182823	\N	\N	EFO	7	EFO	material property	Unilateral retinoblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357034	"" []	5998201	\N	\N	EFO	8	EFO	experimental factor	Unilateral retinoblastoma
Orphanet:35704	\N	\N	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	76949	\N	\N	EFO	0	EFO	Arginine:glycine amidinotransferase deficiency	Arginine:glycine amidinotransferase deficiency
Orphanet:68385	Orphanet:35704	\N	"" []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	220314	\N	\N	EFO	1	EFO	Neurometabolic disease	Arginine:glycine amidinotransferase deficiency
Orphanet:79172	Orphanet:35704	\N	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	220315	\N	\N	EFO	1	EFO	Disorder of creatine biosynthesis	Arginine:glycine amidinotransferase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	575969	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Arginine:glycine amidinotransferase deficiency
Orphanet:79200	Orphanet:79172	\N	"" []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	575970	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Arginine:glycine amidinotransferase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	1159038	\N	\N	EFO	3	EFO	genetic disorder	Arginine:glycine amidinotransferase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	1159039	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Arginine:glycine amidinotransferase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	3192614	\N	\N	EFO	5	EFO	disease	Arginine:glycine amidinotransferase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	2042346	\N	\N	EFO	4	EFO	genetic disorder	Arginine:glycine amidinotransferase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	2042347	\N	\N	EFO	4	EFO	metabolic disease	Arginine:glycine amidinotransferase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	4133984	\N	\N	EFO	6	EFO	disposition	Arginine:glycine amidinotransferase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	3192615	\N	\N	EFO	5	EFO	disease	Arginine:glycine amidinotransferase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	5182824	\N	\N	EFO	7	EFO	material property	Arginine:glycine amidinotransferase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35704	"L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." []	5998202	\N	\N	EFO	8	EFO	experimental factor	Arginine:glycine amidinotransferase deficiency
Orphanet:357043	\N	\N	"" []	Orphanet:357043	"" []	76950	\N	\N	EFO	0	EFO	Amyotrophic lateral sclerosis type 4	Amyotrophic lateral sclerosis type 4
EFO:0000253	Orphanet:357043	\N	"An autosomal dominant inherited form of amyloidosis." []	Orphanet:357043	"" []	220316	\N	\N	EFO	1	EFO	amyotrophic lateral sclerosis	Amyotrophic lateral sclerosis type 4
Orphanet:183500	Orphanet:357043	\N	"" []	Orphanet:357043	"" []	220317	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Amyotrophic lateral sclerosis type 4
Orphanet:98505	Orphanet:357043	\N	"" []	Orphanet:357043	"" []	220318	\N	\N	EFO	1	EFO	Genetic motor neuron disease	Amyotrophic lateral sclerosis type 4
EFO:0003782	EFO:0000253	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:357043	"" []	575971	\N	\N	EFO	2	EFO	motor neuron disease	Amyotrophic lateral sclerosis type 4
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:357043	"" []	575972	\N	\N	EFO	2	EFO	neurodegenerative disease	Amyotrophic lateral sclerosis type 4
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:357043	"" []	575973	\N	\N	EFO	2	EFO	brain disease	Amyotrophic lateral sclerosis type 4
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:357043	"" []	575974	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Amyotrophic lateral sclerosis type 4
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:357043	"" []	575975	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Amyotrophic lateral sclerosis type 4
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:357043	"" []	1159040	\N	\N	EFO	3	EFO	neurodegenerative disease	Amyotrophic lateral sclerosis type 4
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:357043	"" []	2042348	\N	\N	EFO	4	EFO	nervous system disease	Amyotrophic lateral sclerosis type 4
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:357043	"" []	1159042	\N	\N	EFO	3	EFO	nervous system disease	Amyotrophic lateral sclerosis type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357043	"" []	2042352	\N	\N	EFO	4	EFO	genetic disorder	Amyotrophic lateral sclerosis type 4
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:357043	"" []	1159044	\N	\N	EFO	3	EFO	muscular disease	Amyotrophic lateral sclerosis type 4
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:357043	"" []	1159045	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Amyotrophic lateral sclerosis type 4
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357043	"" []	3000334	\N	\N	EFO	5	EFO	disease	Amyotrophic lateral sclerosis type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357043	"" []	3000335	\N	\N	EFO	5	EFO	disease	Amyotrophic lateral sclerosis type 4
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:357043	"" []	2042351	\N	\N	EFO	4	EFO	skeletal system disease	Amyotrophic lateral sclerosis type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357043	"" []	4133985	\N	\N	EFO	6	EFO	disposition	Amyotrophic lateral sclerosis type 4
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357043	"" []	3192617	\N	\N	EFO	5	EFO	disease	Amyotrophic lateral sclerosis type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357043	"" []	5182825	\N	\N	EFO	7	EFO	material property	Amyotrophic lateral sclerosis type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357043	"" []	5998203	\N	\N	EFO	8	EFO	experimental factor	Amyotrophic lateral sclerosis type 4
Orphanet:35705	\N	\N	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	Orphanet:35705	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	76951	\N	\N	EFO	0	EFO	Neurometabolic disorder due to serine deficiency	Neurometabolic disorder due to serine deficiency
Orphanet:79194	Orphanet:35705	\N	"" []	Orphanet:35705	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	220319	\N	\N	EFO	1	EFO	Disorder of serine or glycine metabolism	Neurometabolic disorder due to serine deficiency
Orphanet:79062	Orphanet:79194	\N	"" []	Orphanet:35705	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	575976	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Neurometabolic disorder due to serine deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:35705	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	1159046	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Neurometabolic disorder due to serine deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35705	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	2042353	\N	\N	EFO	4	EFO	genetic disorder	Neurometabolic disorder due to serine deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35705	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	2042354	\N	\N	EFO	4	EFO	metabolic disease	Neurometabolic disorder due to serine deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35705	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	3192618	\N	\N	EFO	5	EFO	disease	Neurometabolic disorder due to serine deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35705	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	3192619	\N	\N	EFO	5	EFO	disease	Neurometabolic disorder due to serine deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35705	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	4399067	\N	\N	EFO	6	EFO	disposition	Neurometabolic disorder due to serine deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35705	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	5416128	\N	\N	EFO	7	EFO	material property	Neurometabolic disorder due to serine deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35705	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	6151752	\N	\N	EFO	8	EFO	experimental factor	Neurometabolic disorder due to serine deficiency
Orphanet:357058	\N	\N	"" []	Orphanet:357058	"" []	76952	\N	\N	EFO	0	EFO	Autosomal recessive cutis laxa type 2A	Autosomal recessive cutis laxa type 2A
Orphanet:309778	Orphanet:357058	\N	"" []	Orphanet:357058	"" []	220320	\N	\N	EFO	1	EFO	Defect in V-ATPase	Autosomal recessive cutis laxa type 2A
Orphanet:371064	Orphanet:357058	\N	"" []	Orphanet:357058	"" []	220321	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Autosomal recessive cutis laxa type 2A
Orphanet:371071	Orphanet:357058	\N	"" []	Orphanet:357058	"" []	220322	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Autosomal recessive cutis laxa type 2A
Orphanet:371195	Orphanet:357058	\N	"" []	Orphanet:357058	"" []	220323	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation-related bone disorder	Autosomal recessive cutis laxa type 2A
Orphanet:371200	Orphanet:357058	\N	"" []	Orphanet:357058	"" []	220324	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	Autosomal recessive cutis laxa type 2A
Orphanet:90350	Orphanet:357058	\N	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	Orphanet:357058	"" []	220325	\N	\N	EFO	1	EFO	Autosomal recessive cutis laxa type 2	Autosomal recessive cutis laxa type 2A
Orphanet:309526	Orphanet:309778	\N	"" []	Orphanet:357058	"" []	575977	\N	\N	EFO	2	EFO	Disorder of multiple glycosylation	Autosomal recessive cutis laxa type 2A
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:357058	"" []	575978	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Autosomal recessive cutis laxa type 2A
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:357058	"" []	575979	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Autosomal recessive cutis laxa type 2A
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:357058	"" []	575980	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Autosomal recessive cutis laxa type 2A
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:357058	"" []	575981	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Autosomal recessive cutis laxa type 2A
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:357058	"" []	575982	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Autosomal recessive cutis laxa type 2A
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:357058	"" []	575983	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Autosomal recessive cutis laxa type 2A
Orphanet:209	Orphanet:90350	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:357058	"" []	575984	\N	\N	EFO	2	EFO	Cutis laxa	Autosomal recessive cutis laxa type 2A
Orphanet:289866	Orphanet:90350	\N	"" []	Orphanet:357058	"" []	575985	\N	\N	EFO	2	EFO	Disorder of proline metabolism	Autosomal recessive cutis laxa type 2A
Orphanet:93446	Orphanet:90350	\N	"" []	Orphanet:357058	"" []	575986	\N	\N	EFO	2	EFO	Primary bone dysplasia with decreased bone density	Autosomal recessive cutis laxa type 2A
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:357058	"" []	1159047	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Autosomal recessive cutis laxa type 2A
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:357058	"" []	1159048	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal recessive cutis laxa type 2A
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:357058	"" []	1159049	\N	\N	EFO	3	EFO	Neurometabolic disease	Autosomal recessive cutis laxa type 2A
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:357058	"" []	1159050	\N	\N	EFO	3	EFO	Rare genetic bone disease	Autosomal recessive cutis laxa type 2A
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:357058	"" []	1159051	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Autosomal recessive cutis laxa type 2A
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:357058	"" []	1159052	\N	\N	EFO	3	EFO	Rare genetic skin disease	Autosomal recessive cutis laxa type 2A
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:357058	"" []	1159053	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Autosomal recessive cutis laxa type 2A
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:357058	"" []	1159054	\N	\N	EFO	3	EFO	Malformation syndrome with connective tissue involvement	Autosomal recessive cutis laxa type 2A
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:357058	"" []	1159055	\N	\N	EFO	3	EFO	Genetic dermis elastic tissue disorder	Autosomal recessive cutis laxa type 2A
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:357058	"" []	1159056	\N	\N	EFO	3	EFO	Congenital entropion	Autosomal recessive cutis laxa type 2A
Orphanet:79185	Orphanet:289866	\N	"" []	Orphanet:357058	"" []	1159057	\N	\N	EFO	3	EFO	Disorder of ornithine or proline metabolism	Autosomal recessive cutis laxa type 2A
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:357058	"" []	1159058	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal recessive cutis laxa type 2A
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:357058	"" []	2042355	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive cutis laxa type 2A
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:357058	"" []	2042356	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Autosomal recessive cutis laxa type 2A
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:357058	"" []	2042357	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cutis laxa type 2A
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357058	"" []	3192631	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive cutis laxa type 2A
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:357058	"" []	3192632	\N	\N	EFO	5	EFO	bone disease	Autosomal recessive cutis laxa type 2A
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:357058	"" []	2042360	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2A
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357058	"" []	4399072	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive cutis laxa type 2A
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:357058	"" []	4399073	\N	\N	EFO	6	EFO	skin disease	Autosomal recessive cutis laxa type 2A
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:357058	"" []	2042363	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2A
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:357058	"" []	2042364	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2A
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:357058	"" []	2042365	\N	\N	EFO	4	EFO	Genetic dermis disorder	Autosomal recessive cutis laxa type 2A
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:357058	"" []	2042366	\N	\N	EFO	4	EFO	Eyelids malposition disorder	Autosomal recessive cutis laxa type 2A
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:357058	"" []	2042367	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Autosomal recessive cutis laxa type 2A
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:357058	"" []	2042368	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal recessive cutis laxa type 2A
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:357058	"" []	2042369	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal recessive cutis laxa type 2A
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357058	"" []	4399075	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive cutis laxa type 2A
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:357058	"" []	4399076	\N	\N	EFO	6	EFO	metabolic disease	Autosomal recessive cutis laxa type 2A
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:357058	"" []	3192622	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive cutis laxa type 2A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357058	"" []	4399069	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive cutis laxa type 2A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357058	"" []	6633779	\N	\N	EFO	9	EFO	disease	Autosomal recessive cutis laxa type 2A
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:357058	"" []	4133987	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal recessive cutis laxa type 2A
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357058	"" []	4399077	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive cutis laxa type 2A
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357058	"" []	5060063	\N	\N	EFO	7	EFO	disease	Autosomal recessive cutis laxa type 2A
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:357058	"" []	3192628	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal recessive cutis laxa type 2A
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:357058	"" []	3192629	\N	\N	EFO	5	EFO	Rare palpebral disease	Autosomal recessive cutis laxa type 2A
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:357058	"" []	3192630	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Autosomal recessive cutis laxa type 2A
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:357058	"" []	3192633	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2A
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357058	"" []	5182826	\N	\N	EFO	7	EFO	disease	Autosomal recessive cutis laxa type 2A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357058	"" []	6778767	\N	\N	EFO	10	EFO	disposition	Autosomal recessive cutis laxa type 2A
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357058	"" []	5182828	\N	\N	EFO	7	EFO	disease	Autosomal recessive cutis laxa type 2A
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:357058	"" []	4399074	\N	\N	EFO	6	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Autosomal recessive cutis laxa type 2A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357058	"" []	7029962	\N	\N	EFO	11	EFO	material property	Autosomal recessive cutis laxa type 2A
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:357058	"" []	5416130	\N	\N	EFO	7	EFO	Rare genetic eye disease	Autosomal recessive cutis laxa type 2A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357058	"" []	7181807	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive cutis laxa type 2A
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357058	"" []	6151754	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive cutis laxa type 2A
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:357058	"" []	6151755	\N	\N	EFO	8	EFO	eye disease	Autosomal recessive cutis laxa type 2A
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357058	"" []	6633780	\N	\N	EFO	9	EFO	disease	Autosomal recessive cutis laxa type 2A
Orphanet:35706	\N	\N	"" []	Orphanet:35706	"" []	76953	\N	\N	EFO	0	EFO	Glutaric acidemia type 3	Glutaric acidemia type 3
Orphanet:309810	Orphanet:35706	\N	"" []	Orphanet:35706	"" []	220326	\N	\N	EFO	1	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	Glutaric acidemia type 3
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:35706	"" []	575987	\N	\N	EFO	2	EFO	Peroxisomal disease	Glutaric acidemia type 3
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:35706	"" []	1159059	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glutaric acidemia type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35706	"" []	2042370	\N	\N	EFO	4	EFO	genetic disorder	Glutaric acidemia type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35706	"" []	2042371	\N	\N	EFO	4	EFO	metabolic disease	Glutaric acidemia type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35706	"" []	3192634	\N	\N	EFO	5	EFO	disease	Glutaric acidemia type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35706	"" []	3192635	\N	\N	EFO	5	EFO	disease	Glutaric acidemia type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35706	"" []	4399078	\N	\N	EFO	6	EFO	disposition	Glutaric acidemia type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35706	"" []	5416131	\N	\N	EFO	7	EFO	material property	Glutaric acidemia type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35706	"" []	6151756	\N	\N	EFO	8	EFO	experimental factor	Glutaric acidemia type 3
Orphanet:357064	\N	\N	"" []	Orphanet:357064	"" []	76954	\N	\N	EFO	0	EFO	Autosomal recessive cutis laxa type 2B	Autosomal recessive cutis laxa type 2B
Orphanet:90350	Orphanet:357064	\N	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	Orphanet:357064	"" []	220327	\N	\N	EFO	1	EFO	Autosomal recessive cutis laxa type 2	Autosomal recessive cutis laxa type 2B
Orphanet:209	Orphanet:90350	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:357064	"" []	575988	\N	\N	EFO	2	EFO	Cutis laxa	Autosomal recessive cutis laxa type 2B
Orphanet:289866	Orphanet:90350	\N	"" []	Orphanet:357064	"" []	575989	\N	\N	EFO	2	EFO	Disorder of proline metabolism	Autosomal recessive cutis laxa type 2B
Orphanet:93446	Orphanet:90350	\N	"" []	Orphanet:357064	"" []	575990	\N	\N	EFO	2	EFO	Primary bone dysplasia with decreased bone density	Autosomal recessive cutis laxa type 2B
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:357064	"" []	1159060	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Autosomal recessive cutis laxa type 2B
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:357064	"" []	1159061	\N	\N	EFO	3	EFO	Malformation syndrome with connective tissue involvement	Autosomal recessive cutis laxa type 2B
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:357064	"" []	1159062	\N	\N	EFO	3	EFO	Genetic dermis elastic tissue disorder	Autosomal recessive cutis laxa type 2B
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:357064	"" []	1159063	\N	\N	EFO	3	EFO	Congenital entropion	Autosomal recessive cutis laxa type 2B
Orphanet:79185	Orphanet:289866	\N	"" []	Orphanet:357064	"" []	1159064	\N	\N	EFO	3	EFO	Disorder of ornithine or proline metabolism	Autosomal recessive cutis laxa type 2B
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:357064	"" []	1159065	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal recessive cutis laxa type 2B
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:357064	"" []	2042372	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2B
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:357064	"" []	2042373	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2B
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:357064	"" []	2042374	\N	\N	EFO	4	EFO	Genetic dermis disorder	Autosomal recessive cutis laxa type 2B
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:357064	"" []	2042375	\N	\N	EFO	4	EFO	Eyelids malposition disorder	Autosomal recessive cutis laxa type 2B
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:357064	"" []	2042376	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Autosomal recessive cutis laxa type 2B
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:357064	"" []	2042377	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal recessive cutis laxa type 2B
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:357064	"" []	2042378	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal recessive cutis laxa type 2B
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357064	"" []	4399086	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive cutis laxa type 2B
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:357064	"" []	3192637	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal recessive cutis laxa type 2B
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:357064	"" []	3192638	\N	\N	EFO	5	EFO	Rare palpebral disease	Autosomal recessive cutis laxa type 2B
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:357064	"" []	3192639	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Autosomal recessive cutis laxa type 2B
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357064	"" []	3192640	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive cutis laxa type 2B
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:357064	"" []	3192641	\N	\N	EFO	5	EFO	bone disease	Autosomal recessive cutis laxa type 2B
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:357064	"" []	3192642	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357064	"" []	6633782	\N	\N	EFO	9	EFO	disease	Autosomal recessive cutis laxa type 2B
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357064	"" []	4399080	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive cutis laxa type 2B
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:357064	"" []	4399081	\N	\N	EFO	6	EFO	skin disease	Autosomal recessive cutis laxa type 2B
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:357064	"" []	4399082	\N	\N	EFO	6	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Autosomal recessive cutis laxa type 2B
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357064	"" []	4399083	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive cutis laxa type 2B
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:357064	"" []	4399084	\N	\N	EFO	6	EFO	metabolic disease	Autosomal recessive cutis laxa type 2B
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:357064	"" []	4399085	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal recessive cutis laxa type 2B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357064	"" []	6808028	\N	\N	EFO	10	EFO	disposition	Autosomal recessive cutis laxa type 2B
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357064	"" []	5416133	\N	\N	EFO	7	EFO	disease	Autosomal recessive cutis laxa type 2B
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:357064	"" []	5416134	\N	\N	EFO	7	EFO	Rare genetic eye disease	Autosomal recessive cutis laxa type 2B
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357064	"" []	5416135	\N	\N	EFO	7	EFO	disease	Autosomal recessive cutis laxa type 2B
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357064	"" []	5416136	\N	\N	EFO	7	EFO	disease	Autosomal recessive cutis laxa type 2B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357064	"" []	7048731	\N	\N	EFO	11	EFO	material property	Autosomal recessive cutis laxa type 2B
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357064	"" []	6151758	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive cutis laxa type 2B
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:357064	"" []	6151759	\N	\N	EFO	8	EFO	eye disease	Autosomal recessive cutis laxa type 2B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357064	"" []	7190242	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive cutis laxa type 2B
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357064	"" []	6633783	\N	\N	EFO	9	EFO	disease	Autosomal recessive cutis laxa type 2B
Orphanet:357074	\N	\N	"" []	Orphanet:357074	"" []	76955	\N	\N	EFO	0	EFO	Autosomal recessive cutis laxa type 2, classic type	Autosomal recessive cutis laxa type 2, classic type
Orphanet:357058	Orphanet:357074	\N	"" []	Orphanet:357074	"" []	220328	\N	\N	EFO	1	EFO	Autosomal recessive cutis laxa type 2A	Autosomal recessive cutis laxa type 2, classic type
Orphanet:309778	Orphanet:357058	\N	"" []	Orphanet:357074	"" []	575991	\N	\N	EFO	2	EFO	Defect in V-ATPase	Autosomal recessive cutis laxa type 2, classic type
Orphanet:371064	Orphanet:357058	\N	"" []	Orphanet:357074	"" []	575992	\N	\N	EFO	2	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Autosomal recessive cutis laxa type 2, classic type
Orphanet:371071	Orphanet:357058	\N	"" []	Orphanet:357074	"" []	575993	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Autosomal recessive cutis laxa type 2, classic type
Orphanet:371195	Orphanet:357058	\N	"" []	Orphanet:357074	"" []	575994	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation-related bone disorder	Autosomal recessive cutis laxa type 2, classic type
Orphanet:371200	Orphanet:357058	\N	"" []	Orphanet:357074	"" []	575995	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with skin involvement	Autosomal recessive cutis laxa type 2, classic type
Orphanet:90350	Orphanet:357058	\N	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	Orphanet:357074	"" []	575996	\N	\N	EFO	2	EFO	Autosomal recessive cutis laxa type 2	Autosomal recessive cutis laxa type 2, classic type
Orphanet:309526	Orphanet:309778	\N	"" []	Orphanet:357074	"" []	1159066	\N	\N	EFO	3	EFO	Disorder of multiple glycosylation	Autosomal recessive cutis laxa type 2, classic type
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:357074	"" []	1159067	\N	\N	EFO	3	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Autosomal recessive cutis laxa type 2, classic type
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:357074	"" []	1159068	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation with neurological involvement	Autosomal recessive cutis laxa type 2, classic type
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:357074	"" []	1159069	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation with neurological involvement	Autosomal recessive cutis laxa type 2, classic type
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:357074	"" []	1159070	\N	\N	EFO	3	EFO	Rare bone disease related to a common gene or pathway defect	Autosomal recessive cutis laxa type 2, classic type
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:357074	"" []	1159071	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation with developmental anomaly	Autosomal recessive cutis laxa type 2, classic type
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:357074	"" []	1159072	\N	\N	EFO	3	EFO	Metabolic disease with skin involvement	Autosomal recessive cutis laxa type 2, classic type
Orphanet:209	Orphanet:90350	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:357074	"" []	1159073	\N	\N	EFO	3	EFO	Cutis laxa	Autosomal recessive cutis laxa type 2, classic type
Orphanet:289866	Orphanet:90350	\N	"" []	Orphanet:357074	"" []	1159074	\N	\N	EFO	3	EFO	Disorder of proline metabolism	Autosomal recessive cutis laxa type 2, classic type
Orphanet:93446	Orphanet:90350	\N	"" []	Orphanet:357074	"" []	1159075	\N	\N	EFO	3	EFO	Primary bone dysplasia with decreased bone density	Autosomal recessive cutis laxa type 2, classic type
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:357074	"" []	2042379	\N	\N	EFO	4	EFO	Congenital disorder of glycosylation	Autosomal recessive cutis laxa type 2, classic type
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:357074	"" []	2042380	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal recessive cutis laxa type 2, classic type
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:357074	"" []	2042381	\N	\N	EFO	4	EFO	Neurometabolic disease	Autosomal recessive cutis laxa type 2, classic type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:357074	"" []	2042382	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal recessive cutis laxa type 2, classic type
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:357074	"" []	2042383	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Autosomal recessive cutis laxa type 2, classic type
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:357074	"" []	2042384	\N	\N	EFO	4	EFO	Rare genetic skin disease	Autosomal recessive cutis laxa type 2, classic type
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:357074	"" []	2042385	\N	\N	EFO	4	EFO	Malformation syndrome with skin/mucosae involvement	Autosomal recessive cutis laxa type 2, classic type
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:357074	"" []	2042386	\N	\N	EFO	4	EFO	Malformation syndrome with connective tissue involvement	Autosomal recessive cutis laxa type 2, classic type
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:357074	"" []	2042387	\N	\N	EFO	4	EFO	Genetic dermis elastic tissue disorder	Autosomal recessive cutis laxa type 2, classic type
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:357074	"" []	2042388	\N	\N	EFO	4	EFO	Congenital entropion	Autosomal recessive cutis laxa type 2, classic type
Orphanet:79185	Orphanet:289866	\N	"" []	Orphanet:357074	"" []	2042389	\N	\N	EFO	4	EFO	Disorder of ornithine or proline metabolism	Autosomal recessive cutis laxa type 2, classic type
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:357074	"" []	2042390	\N	\N	EFO	4	EFO	Primary bone dysplasia	Autosomal recessive cutis laxa type 2, classic type
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:357074	"" []	3192643	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Autosomal recessive cutis laxa type 2, classic type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:357074	"" []	3192644	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Autosomal recessive cutis laxa type 2, classic type
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:357074	"" []	3192645	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive cutis laxa type 2, classic type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357074	"" []	4399098	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive cutis laxa type 2, classic type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:357074	"" []	4399099	\N	\N	EFO	6	EFO	bone disease	Autosomal recessive cutis laxa type 2, classic type
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:357074	"" []	3192648	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2, classic type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357074	"" []	5416141	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cutis laxa type 2, classic type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:357074	"" []	5416142	\N	\N	EFO	7	EFO	skin disease	Autosomal recessive cutis laxa type 2, classic type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:357074	"" []	3192651	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2, classic type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:357074	"" []	3192652	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2, classic type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:357074	"" []	3192653	\N	\N	EFO	5	EFO	Genetic dermis disorder	Autosomal recessive cutis laxa type 2, classic type
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:357074	"" []	3192654	\N	\N	EFO	5	EFO	Eyelids malposition disorder	Autosomal recessive cutis laxa type 2, classic type
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:357074	"" []	3192655	\N	\N	EFO	5	EFO	Disorder of amino acid and other organic acid metabolism	Autosomal recessive cutis laxa type 2, classic type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:357074	"" []	3192656	\N	\N	EFO	5	EFO	Rare genetic bone disease	Autosomal recessive cutis laxa type 2, classic type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:357074	"" []	3192657	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Autosomal recessive cutis laxa type 2, classic type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357074	"" []	5416144	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cutis laxa type 2, classic type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:357074	"" []	5416145	\N	\N	EFO	7	EFO	metabolic disease	Autosomal recessive cutis laxa type 2, classic type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:357074	"" []	4399089	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive cutis laxa type 2, classic type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357074	"" []	5416138	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cutis laxa type 2, classic type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357074	"" []	6926123	\N	\N	EFO	10	EFO	disease	Autosomal recessive cutis laxa type 2, classic type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:357074	"" []	5182831	\N	\N	EFO	7	EFO	skeletal system disease	Autosomal recessive cutis laxa type 2, classic type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357074	"" []	5416146	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cutis laxa type 2, classic type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357074	"" []	5877447	\N	\N	EFO	8	EFO	disease	Autosomal recessive cutis laxa type 2, classic type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:357074	"" []	4399095	\N	\N	EFO	6	EFO	Rare genetic skin disease	Autosomal recessive cutis laxa type 2, classic type
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:357074	"" []	4399096	\N	\N	EFO	6	EFO	Rare palpebral disease	Autosomal recessive cutis laxa type 2, classic type
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:357074	"" []	4399097	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Autosomal recessive cutis laxa type 2, classic type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:357074	"" []	4399100	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2, classic type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357074	"" []	5998206	\N	\N	EFO	8	EFO	disease	Autosomal recessive cutis laxa type 2, classic type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357074	"" []	7029963	\N	\N	EFO	11	EFO	disposition	Autosomal recessive cutis laxa type 2, classic type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357074	"" []	5998208	\N	\N	EFO	8	EFO	disease	Autosomal recessive cutis laxa type 2, classic type
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:357074	"" []	5416143	\N	\N	EFO	7	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Autosomal recessive cutis laxa type 2, classic type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357074	"" []	7181808	\N	\N	EFO	12	EFO	material property	Autosomal recessive cutis laxa type 2, classic type
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:357074	"" []	6151761	\N	\N	EFO	8	EFO	Rare genetic eye disease	Autosomal recessive cutis laxa type 2, classic type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357074	"" []	7279098	\N	\N	EFO	13	EFO	experimental factor	Autosomal recessive cutis laxa type 2, classic type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357074	"" []	6633785	\N	\N	EFO	9	EFO	genetic disorder	Autosomal recessive cutis laxa type 2, classic type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:357074	"" []	6633786	\N	\N	EFO	9	EFO	eye disease	Autosomal recessive cutis laxa type 2, classic type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357074	"" []	6926124	\N	\N	EFO	10	EFO	disease	Autosomal recessive cutis laxa type 2, classic type
Orphanet:35708	\N	\N	"" []	Orphanet:35708	"" []	76956	\N	\N	EFO	0	EFO	Aromatic L-amino acid decarboxylase deficiency	Aromatic L-amino acid decarboxylase deficiency
Orphanet:309830	Orphanet:35708	\N	"" []	Orphanet:35708	"" []	220329	\N	\N	EFO	1	EFO	Disorder of catecholamine synthesis	Aromatic L-amino acid decarboxylase deficiency
Orphanet:68385	Orphanet:35708	\N	"" []	Orphanet:35708	"" []	220330	\N	\N	EFO	1	EFO	Neurometabolic disease	Aromatic L-amino acid decarboxylase deficiency
Orphanet:79169	Orphanet:309830	\N	"" []	Orphanet:35708	"" []	575997	\N	\N	EFO	2	EFO	Disorder of neurotransmitter metabolism and transport	Aromatic L-amino acid decarboxylase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:35708	"" []	575998	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Aromatic L-amino acid decarboxylase deficiency
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:35708	"" []	1159076	\N	\N	EFO	3	EFO	Disorder of biogenic amine metabolism and transport	Aromatic L-amino acid decarboxylase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35708	"" []	1159077	\N	\N	EFO	3	EFO	genetic disorder	Aromatic L-amino acid decarboxylase deficiency
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:35708	"" []	2042391	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Aromatic L-amino acid decarboxylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35708	"" []	4399101	\N	\N	EFO	6	EFO	disease	Aromatic L-amino acid decarboxylase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35708	"" []	3192658	\N	\N	EFO	5	EFO	genetic disorder	Aromatic L-amino acid decarboxylase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35708	"" []	3192659	\N	\N	EFO	5	EFO	metabolic disease	Aromatic L-amino acid decarboxylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35708	"" []	5060064	\N	\N	EFO	7	EFO	disposition	Aromatic L-amino acid decarboxylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35708	"" []	4399102	\N	\N	EFO	6	EFO	disease	Aromatic L-amino acid decarboxylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35708	"" []	5877448	\N	\N	EFO	8	EFO	material property	Aromatic L-amino acid decarboxylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35708	"" []	6470680	\N	\N	EFO	9	EFO	experimental factor	Aromatic L-amino acid decarboxylase deficiency
Orphanet:35710	\N	\N	"" []	Orphanet:35710	"" []	76957	\N	\N	EFO	0	EFO	Glucose-galactose malabsorption	Glucose-galactose malabsorption
Orphanet:104003	Orphanet:35710	\N	"" []	Orphanet:35710	"" []	220331	\N	\N	EFO	1	EFO	Congenital intestinal transport defect	Glucose-galactose malabsorption
Orphanet:79178	Orphanet:35710	\N	"" []	Orphanet:35710	"" []	220332	\N	\N	EFO	1	EFO	Glucose transport disorder	Glucose-galactose malabsorption
Orphanet:165655	Orphanet:104003	\N	"" []	Orphanet:35710	"" []	575999	\N	\N	EFO	2	EFO	Genetic intestinal disease	Glucose-galactose malabsorption
Orphanet:309001	Orphanet:79178	\N	"" []	Orphanet:35710	"" []	576000	\N	\N	EFO	2	EFO	Disorder of carbohydrate absorption and transport	Glucose-galactose malabsorption
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:35710	"" []	1159078	\N	\N	EFO	3	EFO	digestive system disease	Glucose-galactose malabsorption
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:35710	"" []	1159079	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Glucose-galactose malabsorption
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:35710	"" []	1159080	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glucose-galactose malabsorption
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35710	"" []	2042393	\N	\N	EFO	4	EFO	disease	Glucose-galactose malabsorption
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35710	"" []	2042394	\N	\N	EFO	4	EFO	genetic disorder	Glucose-galactose malabsorption
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:35710	"" []	2042395	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glucose-galactose malabsorption
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35710	"" []	5182833	\N	\N	EFO	7	EFO	disposition	Glucose-galactose malabsorption
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35710	"" []	4399106	\N	\N	EFO	6	EFO	disease	Glucose-galactose malabsorption
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35710	"" []	3192663	\N	\N	EFO	5	EFO	genetic disorder	Glucose-galactose malabsorption
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35710	"" []	3192664	\N	\N	EFO	5	EFO	metabolic disease	Glucose-galactose malabsorption
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35710	"" []	5877449	\N	\N	EFO	8	EFO	material property	Glucose-galactose malabsorption
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35710	"" []	4399107	\N	\N	EFO	6	EFO	disease	Glucose-galactose malabsorption
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35710	"" []	6470681	\N	\N	EFO	9	EFO	experimental factor	Glucose-galactose malabsorption
Orphanet:357158	\N	\N	"" []	Orphanet:357158	"" []	76958	\N	\N	EFO	0	EFO	Mandibulofacial dysostosis - macroblepharon - macrostomia	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:155899	Orphanet:357158	\N	"" []	Orphanet:357158	"" []	220333	\N	\N	EFO	1	EFO	Mandibulofacial dysostosis	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:183576	Orphanet:357158	\N	"" []	Orphanet:357158	"" []	220334	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:93453	Orphanet:357158	\N	"" []	Orphanet:357158	"" []	220335	\N	\N	EFO	1	EFO	Dysostosis with predominant craniofacial involvement	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:155896	Orphanet:155899	\N	"" []	Orphanet:357158	"" []	576001	\N	\N	EFO	2	EFO	Otomandibular dysplasia	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:357158	"" []	576002	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:357158	"" []	576003	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:357158	"" []	1159081	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Mandibulofacial dysostosis - macroblepharon - macrostomia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357158	"" []	4399108	\N	\N	EFO	6	EFO	genetic disorder	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:357158	"" []	1159083	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:357158	"" []	1159084	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:357158	"" []	2042396	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Mandibulofacial dysostosis - macroblepharon - macrostomia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357158	"" []	5028445	\N	\N	EFO	7	EFO	disease	Mandibulofacial dysostosis - macroblepharon - macrostomia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357158	"" []	2042398	\N	\N	EFO	4	EFO	genetic disorder	Mandibulofacial dysostosis - macroblepharon - macrostomia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:357158	"" []	2042399	\N	\N	EFO	4	EFO	bone disease	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:357158	"" []	2042400	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:357158	"" []	3192665	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mandibulofacial dysostosis - macroblepharon - macrostomia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357158	"" []	5817741	\N	\N	EFO	8	EFO	disposition	Mandibulofacial dysostosis - macroblepharon - macrostomia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:357158	"" []	3192668	\N	\N	EFO	5	EFO	skeletal system disease	Mandibulofacial dysostosis - macroblepharon - macrostomia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357158	"" []	6410198	\N	\N	EFO	9	EFO	material property	Mandibulofacial dysostosis - macroblepharon - macrostomia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357158	"" []	4399110	\N	\N	EFO	6	EFO	disease	Mandibulofacial dysostosis - macroblepharon - macrostomia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357158	"" []	6808029	\N	\N	EFO	10	EFO	experimental factor	Mandibulofacial dysostosis - macroblepharon - macrostomia
Orphanet:357175	\N	\N	"" []	Orphanet:357175	"" []	76959	\N	\N	EFO	0	EFO	Short ulna - dysmorphism - hypotonia - intellectual disability	Short ulna - dysmorphism - hypotonia - intellectual disability
Orphanet:102283	Orphanet:357175	\N	"" []	Orphanet:357175	"" []	220336	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Short ulna - dysmorphism - hypotonia - intellectual disability
Orphanet:183763	Orphanet:357175	\N	"" []	Orphanet:357175	"" []	220337	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Short ulna - dysmorphism - hypotonia - intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:357175	"" []	576004	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Short ulna - dysmorphism - hypotonia - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:357175	"" []	576005	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Short ulna - dysmorphism - hypotonia - intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:357175	"" []	1159085	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Short ulna - dysmorphism - hypotonia - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:357175	"" []	1159086	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Short ulna - dysmorphism - hypotonia - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357175	"" []	2042401	\N	\N	EFO	4	EFO	genetic disorder	Short ulna - dysmorphism - hypotonia - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357175	"" []	2042402	\N	\N	EFO	4	EFO	genetic disorder	Short ulna - dysmorphism - hypotonia - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357175	"" []	3192670	\N	\N	EFO	5	EFO	disease	Short ulna - dysmorphism - hypotonia - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357175	"" []	4399111	\N	\N	EFO	6	EFO	disposition	Short ulna - dysmorphism - hypotonia - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357175	"" []	5416150	\N	\N	EFO	7	EFO	material property	Short ulna - dysmorphism - hypotonia - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357175	"" []	6151762	\N	\N	EFO	8	EFO	experimental factor	Short ulna - dysmorphism - hypotonia - intellectual disability
Orphanet:357225	\N	\N	"" []	Orphanet:357225	"" []	76960	\N	\N	EFO	0	EFO	Primary non-essential cutis verticis gyrata	Primary non-essential cutis verticis gyrata
Orphanet:183472	Orphanet:357225	\N	"" []	Orphanet:357225	"" []	220338	\N	\N	EFO	1	EFO	Genetic dermis disorder	Primary non-essential cutis verticis gyrata
Orphanet:183763	Orphanet:357225	\N	"" []	Orphanet:357225	"" []	220339	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Primary non-essential cutis verticis gyrata
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:357225	"" []	576006	\N	\N	EFO	2	EFO	Rare genetic skin disease	Primary non-essential cutis verticis gyrata
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:357225	"" []	576007	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Primary non-essential cutis verticis gyrata
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357225	"" []	1159087	\N	\N	EFO	3	EFO	genetic disorder	Primary non-essential cutis verticis gyrata
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:357225	"" []	1159088	\N	\N	EFO	3	EFO	skin disease	Primary non-essential cutis verticis gyrata
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:357225	"" []	1159089	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Primary non-essential cutis verticis gyrata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357225	"" []	3192672	\N	\N	EFO	5	EFO	disease	Primary non-essential cutis verticis gyrata
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357225	"" []	2042404	\N	\N	EFO	4	EFO	disease	Primary non-essential cutis verticis gyrata
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357225	"" []	2042405	\N	\N	EFO	4	EFO	genetic disorder	Primary non-essential cutis verticis gyrata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357225	"" []	4133989	\N	\N	EFO	6	EFO	disposition	Primary non-essential cutis verticis gyrata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357225	"" []	5182835	\N	\N	EFO	7	EFO	material property	Primary non-essential cutis verticis gyrata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357225	"" []	5998211	\N	\N	EFO	8	EFO	experimental factor	Primary non-essential cutis verticis gyrata
Orphanet:357237	\N	\N	"" []	Orphanet:357237	"" []	76961	\N	\N	EFO	0	EFO	Severe combined immunodeficiency due to CARD11 deficiency	Severe combined immunodeficiency due to CARD11 deficiency
Orphanet:397802	Orphanet:357237	\N	"" []	Orphanet:357237	"" []	220340	\N	\N	EFO	1	EFO	T+ B+ severe combined immunodeficiency	Severe combined immunodeficiency due to CARD11 deficiency
Orphanet:183660	Orphanet:397802	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:357237	"" []	576008	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	Severe combined immunodeficiency due to CARD11 deficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:357237	"" []	1159090	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	Severe combined immunodeficiency due to CARD11 deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:357237	"" []	2042406	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Severe combined immunodeficiency due to CARD11 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:357237	"" []	3192673	\N	\N	EFO	5	EFO	Primary immunodeficiency	Severe combined immunodeficiency due to CARD11 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:357237	"" []	4399113	\N	\N	EFO	6	EFO	Rare genetic immune disease	Severe combined immunodeficiency due to CARD11 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357237	"" []	5416152	\N	\N	EFO	7	EFO	genetic disorder	Severe combined immunodeficiency due to CARD11 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:357237	"" []	5416153	\N	\N	EFO	7	EFO	immune system disease	Severe combined immunodeficiency due to CARD11 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357237	"" []	6151763	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to CARD11 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357237	"" []	6151764	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to CARD11 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357237	"" []	6633787	\N	\N	EFO	9	EFO	disposition	Severe combined immunodeficiency due to CARD11 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357237	"" []	6926125	\N	\N	EFO	10	EFO	material property	Severe combined immunodeficiency due to CARD11 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357237	"" []	7099284	\N	\N	EFO	11	EFO	experimental factor	Severe combined immunodeficiency due to CARD11 deficiency
Orphanet:357329	\N	\N	"" []	Orphanet:357329	"" []	76962	\N	\N	EFO	0	EFO	Cryptosporidiosis - chronic cholangitis - liver disease	Cryptosporidiosis - chronic cholangitis - liver disease
Orphanet:101972	Orphanet:357329	\N	"" []	Orphanet:357329	"" []	220341	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Cryptosporidiosis - chronic cholangitis - liver disease
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:357329	"" []	576009	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Cryptosporidiosis - chronic cholangitis - liver disease
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:357329	"" []	1159091	\N	\N	EFO	3	EFO	Primary immunodeficiency	Cryptosporidiosis - chronic cholangitis - liver disease
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:357329	"" []	2042407	\N	\N	EFO	4	EFO	Rare genetic immune disease	Cryptosporidiosis - chronic cholangitis - liver disease
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357329	"" []	3192674	\N	\N	EFO	5	EFO	genetic disorder	Cryptosporidiosis - chronic cholangitis - liver disease
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:357329	"" []	3192675	\N	\N	EFO	5	EFO	immune system disease	Cryptosporidiosis - chronic cholangitis - liver disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357329	"" []	4399114	\N	\N	EFO	6	EFO	disease	Cryptosporidiosis - chronic cholangitis - liver disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357329	"" []	4399115	\N	\N	EFO	6	EFO	disease	Cryptosporidiosis - chronic cholangitis - liver disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357329	"" []	5416154	\N	\N	EFO	7	EFO	disposition	Cryptosporidiosis - chronic cholangitis - liver disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357329	"" []	6151765	\N	\N	EFO	8	EFO	material property	Cryptosporidiosis - chronic cholangitis - liver disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357329	"" []	6633788	\N	\N	EFO	9	EFO	experimental factor	Cryptosporidiosis - chronic cholangitis - liver disease
Orphanet:357332	\N	\N	"" []	Orphanet:357332	"" []	76963	\N	\N	EFO	0	EFO	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
Orphanet:294959	Orphanet:357332	\N	"" []	Orphanet:357332	"" []	220342	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:357332	"" []	576010	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:357332	"" []	576011	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:357332	"" []	1159092	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:357332	"" []	1159093	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:357332	"" []	2042408	\N	\N	EFO	4	EFO	Rare genetic bone disease	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:357332	"" []	2042409	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:357332	"" []	2042410	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357332	"" []	3192676	\N	\N	EFO	5	EFO	genetic disorder	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:357332	"" []	3192677	\N	\N	EFO	5	EFO	bone disease	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:357332	"" []	3192678	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357332	"" []	4399118	\N	\N	EFO	6	EFO	genetic disorder	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357332	"" []	5182836	\N	\N	EFO	7	EFO	disease	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:357332	"" []	4399117	\N	\N	EFO	6	EFO	skeletal system disease	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357332	"" []	5998212	\N	\N	EFO	8	EFO	disposition	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357332	"" []	5416156	\N	\N	EFO	7	EFO	disease	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357332	"" []	6551458	\N	\N	EFO	9	EFO	material property	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357332	"" []	6889444	\N	\N	EFO	10	EFO	experimental factor	Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
Orphanet:35737	\N	\N	"" []	Orphanet:35737	"" []	76964	\N	\N	EFO	0	EFO	Morning glory syndrome	Morning glory syndrome
Orphanet:98558	Orphanet:35737	\N	"" []	Orphanet:35737	"" []	220343	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	Morning glory syndrome
Orphanet:98671	Orphanet:35737	\N	"" []	Orphanet:35737	"" []	220344	\N	\N	EFO	1	EFO	Optic neuropathy	Morning glory syndrome
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:35737	"" []	576012	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Morning glory syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:35737	"" []	576013	\N	\N	EFO	2	EFO	Rare genetic eye disease	Morning glory syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:35737	"" []	1159094	\N	\N	EFO	3	EFO	Rare genetic eye disease	Morning glory syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:35737	"" []	1159095	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Morning glory syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35737	"" []	2042411	\N	\N	EFO	4	EFO	genetic disorder	Morning glory syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:35737	"" []	2042412	\N	\N	EFO	4	EFO	eye disease	Morning glory syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35737	"" []	2042413	\N	\N	EFO	4	EFO	genetic disorder	Morning glory syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35737	"" []	3000336	\N	\N	EFO	5	EFO	disease	Morning glory syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35737	"" []	3000337	\N	\N	EFO	5	EFO	disease	Morning glory syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35737	"" []	4133990	\N	\N	EFO	6	EFO	disposition	Morning glory syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35737	"" []	5182837	\N	\N	EFO	7	EFO	material property	Morning glory syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35737	"" []	5998213	\N	\N	EFO	8	EFO	experimental factor	Morning glory syndrome
Orphanet:357506	\N	\N	"" []	Orphanet:357506	"" []	76965	\N	\N	EFO	0	EFO	Genetic non-syndromic renal or urinary tract malformation	Genetic non-syndromic renal or urinary tract malformation
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:357506	"" []	220345	\N	\N	EFO	1	EFO	Genetic renal or urinary tract malformation	Genetic non-syndromic renal or urinary tract malformation
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:357506	"" []	576014	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Genetic non-syndromic renal or urinary tract malformation
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:357506	"" []	576015	\N	\N	EFO	2	EFO	Rare genetic renal disease	Genetic non-syndromic renal or urinary tract malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357506	"" []	1159098	\N	\N	EFO	3	EFO	genetic disorder	Genetic non-syndromic renal or urinary tract malformation
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:357506	"" []	1159099	\N	\N	EFO	3	EFO	genetic disorder	Genetic non-syndromic renal or urinary tract malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:357506	"" []	2042416	\N	\N	EFO	4	EFO	disease	Genetic non-syndromic renal or urinary tract malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:357506	"" []	3192681	\N	\N	EFO	5	EFO	disposition	Genetic non-syndromic renal or urinary tract malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:357506	"" []	4399120	\N	\N	EFO	6	EFO	material property	Genetic non-syndromic renal or urinary tract malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:357506	"" []	5416158	\N	\N	EFO	7	EFO	experimental factor	Genetic non-syndromic renal or urinary tract malformation
Orphanet:358	\N	\N	"" []	Orphanet:358	"" []	76966	\N	\N	EFO	0	EFO	Gitelman syndrome	Gitelman syndrome
Orphanet:183592	Orphanet:358	\N	"" []	Orphanet:358	"" []	220346	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Gitelman syndrome
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:358	"" []	576016	\N	\N	EFO	2	EFO	Rare genetic renal disease	Gitelman syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:358	"" []	1159100	\N	\N	EFO	3	EFO	genetic disorder	Gitelman syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:358	"" []	2042417	\N	\N	EFO	4	EFO	disease	Gitelman syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:358	"" []	3192682	\N	\N	EFO	5	EFO	disposition	Gitelman syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:358	"" []	4399121	\N	\N	EFO	6	EFO	material property	Gitelman syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:358	"" []	5416159	\N	\N	EFO	7	EFO	experimental factor	Gitelman syndrome
Orphanet:35858	\N	\N	"" []	Orphanet:35858	"" []	76967	\N	\N	EFO	0	EFO	Grsbeck-Imerslund disease	Grsbeck-Imerslund disease
Orphanet:104004	Orphanet:35858	\N	"" []	Orphanet:35858	"" []	220347	\N	\N	EFO	1	EFO	Intestinal disease due to vitamin absorption anomaly	Grsbeck-Imerslund disease
Orphanet:79171	Orphanet:35858	\N	"" []	Orphanet:35858	"" []	220348	\N	\N	EFO	1	EFO	Disorder of cobalamin metabolism and transport	Grsbeck-Imerslund disease
Orphanet:93593	Orphanet:35858	\N	"" []	Orphanet:35858	"" []	220349	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Grsbeck-Imerslund disease
Orphanet:98396	Orphanet:35858	\N	"" []	Orphanet:35858	"" []	220350	\N	\N	EFO	1	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Grsbeck-Imerslund disease
Orphanet:165655	Orphanet:104004	\N	"" []	Orphanet:35858	"" []	576017	\N	\N	EFO	2	EFO	Genetic intestinal disease	Grsbeck-Imerslund disease
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:35858	"" []	576018	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Grsbeck-Imerslund disease
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:35858	"" []	576019	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Grsbeck-Imerslund disease
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:35858	"" []	576020	\N	\N	EFO	2	EFO	Rare genetic renal disease	Grsbeck-Imerslund disease
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:35858	"" []	576021	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Grsbeck-Imerslund disease
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:35858	"" []	1159101	\N	\N	EFO	3	EFO	digestive system disease	Grsbeck-Imerslund disease
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:35858	"" []	1159102	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Grsbeck-Imerslund disease
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35858	"" []	1159103	\N	\N	EFO	3	EFO	metabolic disease	Grsbeck-Imerslund disease
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:35858	"" []	1159104	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Grsbeck-Imerslund disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35858	"" []	1159105	\N	\N	EFO	3	EFO	genetic disorder	Grsbeck-Imerslund disease
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:35858	"" []	1159106	\N	\N	EFO	3	EFO	Rare constitutional anemia	Grsbeck-Imerslund disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35858	"" []	2042418	\N	\N	EFO	4	EFO	disease	Grsbeck-Imerslund disease
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35858	"" []	2042419	\N	\N	EFO	4	EFO	genetic disorder	Grsbeck-Imerslund disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35858	"" []	4399124	\N	\N	EFO	6	EFO	disease	Grsbeck-Imerslund disease
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:35858	"" []	2042421	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Grsbeck-Imerslund disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35858	"" []	4399123	\N	\N	EFO	6	EFO	disease	Grsbeck-Imerslund disease
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:35858	"" []	2042423	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Grsbeck-Imerslund disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35858	"" []	5060066	\N	\N	EFO	7	EFO	disposition	Grsbeck-Imerslund disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35858	"" []	3192685	\N	\N	EFO	5	EFO	genetic disorder	Grsbeck-Imerslund disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35858	"" []	3192686	\N	\N	EFO	5	EFO	metabolic disease	Grsbeck-Imerslund disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35858	"" []	3192687	\N	\N	EFO	5	EFO	genetic disorder	Grsbeck-Imerslund disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:35858	"" []	3192688	\N	\N	EFO	5	EFO	hematological system disease	Grsbeck-Imerslund disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35858	"" []	5877451	\N	\N	EFO	8	EFO	material property	Grsbeck-Imerslund disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35858	"" []	4399125	\N	\N	EFO	6	EFO	disease	Grsbeck-Imerslund disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35858	"" []	6470683	\N	\N	EFO	9	EFO	experimental factor	Grsbeck-Imerslund disease
Orphanet:35878	\N	\N	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	76968	\N	\N	EFO	0	EFO	Hyperinsulinism-hyperammonemia syndrome	Hyperinsulinism-hyperammonemia syndrome
Orphanet:165985	Orphanet:35878	\N	"" []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	220351	\N	\N	EFO	1	EFO	Diazoxide-sensitive diffuse hyperinsulinism	Hyperinsulinism-hyperammonemia syndrome
Orphanet:79167	Orphanet:35878	\N	"" []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	220352	\N	\N	EFO	1	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Hyperinsulinism-hyperammonemia syndrome
Orphanet:657	Orphanet:165985	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	576022	\N	\N	EFO	2	EFO	Congenital isolated hyperinsulinism	Hyperinsulinism-hyperammonemia syndrome
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	576023	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Hyperinsulinism-hyperammonemia syndrome
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	1159107	\N	\N	EFO	3	EFO	Familial hyperinsulinism	Hyperinsulinism-hyperammonemia syndrome
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	1159108	\N	\N	EFO	3	EFO	Overgrowth syndrome	Hyperinsulinism-hyperammonemia syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	1159109	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hyperinsulinism-hyperammonemia syndrome
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	2042424	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hyperinsulinism-hyperammonemia syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	2042425	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Hyperinsulinism-hyperammonemia syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	2042426	\N	\N	EFO	4	EFO	genetic disorder	Hyperinsulinism-hyperammonemia syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	2042427	\N	\N	EFO	4	EFO	metabolic disease	Hyperinsulinism-hyperammonemia syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	3192689	\N	\N	EFO	5	EFO	genetic disorder	Hyperinsulinism-hyperammonemia syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	3192690	\N	\N	EFO	5	EFO	endocrine system disease	Hyperinsulinism-hyperammonemia syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	3192691	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hyperinsulinism-hyperammonemia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	5416161	\N	\N	EFO	7	EFO	disease	Hyperinsulinism-hyperammonemia syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	3192693	\N	\N	EFO	5	EFO	disease	Hyperinsulinism-hyperammonemia syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	4399127	\N	\N	EFO	6	EFO	disease	Hyperinsulinism-hyperammonemia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	4399128	\N	\N	EFO	6	EFO	genetic disorder	Hyperinsulinism-hyperammonemia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	5877452	\N	\N	EFO	8	EFO	disposition	Hyperinsulinism-hyperammonemia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	6470684	\N	\N	EFO	9	EFO	material property	Hyperinsulinism-hyperammonemia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35878	"Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	6848662	\N	\N	EFO	10	EFO	experimental factor	Hyperinsulinism-hyperammonemia syndrome
Orphanet:359	\N	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	76969	\N	\N	EFO	0	EFO	Hereditary glaucoma	Hereditary glaucoma
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	220353	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Hereditary glaucoma
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	576024	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Hereditary glaucoma
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	1159110	\N	\N	EFO	3	EFO	Rare genetic eye disease	Hereditary glaucoma
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	1159111	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hereditary glaucoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	2042428	\N	\N	EFO	4	EFO	genetic disorder	Hereditary glaucoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	2042429	\N	\N	EFO	4	EFO	eye disease	Hereditary glaucoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	2042430	\N	\N	EFO	4	EFO	genetic disorder	Hereditary glaucoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	3192694	\N	\N	EFO	5	EFO	disease	Hereditary glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	3192695	\N	\N	EFO	5	EFO	disease	Hereditary glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	4399130	\N	\N	EFO	6	EFO	disposition	Hereditary glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	5416163	\N	\N	EFO	7	EFO	material property	Hereditary glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:359	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	6151768	\N	\N	EFO	8	EFO	experimental factor	Hereditary glaucoma
Orphanet:35909	\N	\N	"Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." []	Orphanet:35909	"Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." []	76970	\N	\N	EFO	0	EFO	Combined deficiency of factor V and factor VIII	Combined deficiency of factor V and factor VIII
Orphanet:68334	Orphanet:35909	\N	"" []	Orphanet:35909	"Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." []	220354	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Combined deficiency of factor V and factor VIII
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:35909	"Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." []	576025	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Combined deficiency of factor V and factor VIII
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:35909	"Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." []	1159112	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Combined deficiency of factor V and factor VIII
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35909	"Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." []	2042431	\N	\N	EFO	4	EFO	genetic disorder	Combined deficiency of factor V and factor VIII
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:35909	"Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." []	2042432	\N	\N	EFO	4	EFO	hematological system disease	Combined deficiency of factor V and factor VIII
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35909	"Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." []	3192696	\N	\N	EFO	5	EFO	disease	Combined deficiency of factor V and factor VIII
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35909	"Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." []	3192697	\N	\N	EFO	5	EFO	disease	Combined deficiency of factor V and factor VIII
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35909	"Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." []	4399131	\N	\N	EFO	6	EFO	disposition	Combined deficiency of factor V and factor VIII
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35909	"Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." []	5416164	\N	\N	EFO	7	EFO	material property	Combined deficiency of factor V and factor VIII
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35909	"Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." []	6151769	\N	\N	EFO	8	EFO	experimental factor	Combined deficiency of factor V and factor VIII
Orphanet:35981	\N	\N	"" []	Orphanet:35981	"" []	76971	\N	\N	EFO	0	EFO	Polymicrogyria	Polymicrogyria
Orphanet:163209	Orphanet:35981	\N	"" []	Orphanet:35981	"" []	220355	\N	\N	EFO	1	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Polymicrogyria
Orphanet:183763	Orphanet:35981	\N	"" []	Orphanet:35981	"" []	220356	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Polymicrogyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:35981	"" []	576026	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Polymicrogyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:35981	"" []	576027	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Polymicrogyria
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:35981	"" []	576028	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Polymicrogyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:35981	"" []	1159113	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Polymicrogyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:35981	"" []	1159114	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Polymicrogyria
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:35981	"" []	1159115	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Polymicrogyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:35981	"" []	2042433	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Polymicrogyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:35981	"" []	2042434	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Polymicrogyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35981	"" []	4399133	\N	\N	EFO	6	EFO	genetic disorder	Polymicrogyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:35981	"" []	3192699	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Polymicrogyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:35981	"" []	3192700	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Polymicrogyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:35981	"" []	5060067	\N	\N	EFO	7	EFO	disease	Polymicrogyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:35981	"" []	4399132	\N	\N	EFO	6	EFO	genetic disorder	Polymicrogyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:35981	"" []	5877453	\N	\N	EFO	8	EFO	disposition	Polymicrogyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:35981	"" []	6470685	\N	\N	EFO	9	EFO	material property	Polymicrogyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:35981	"" []	6848663	\N	\N	EFO	10	EFO	experimental factor	Polymicrogyria
Orphanet:36	\N	\N	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	76972	\N	\N	EFO	0	EFO	Acrocallosal syndrome	Acrocallosal syndrome
Orphanet:102283	Orphanet:36	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	220357	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Acrocallosal syndrome
Orphanet:183763	Orphanet:36	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	220358	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Acrocallosal syndrome
Orphanet:269573	Orphanet:36	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	220359	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Acrocallosal syndrome
Orphanet:294959	Orphanet:36	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	220360	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Acrocallosal syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	576029	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Acrocallosal syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	576030	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Acrocallosal syndrome
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	576031	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Acrocallosal syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	576032	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrocallosal syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	576033	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Acrocallosal syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	1159116	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acrocallosal syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	1159117	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Acrocallosal syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	1159118	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Acrocallosal syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	1159119	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Acrocallosal syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	1159120	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Acrocallosal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	4399137	\N	\N	EFO	6	EFO	genetic disorder	Acrocallosal syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	3192704	\N	\N	EFO	5	EFO	genetic disorder	Acrocallosal syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	2042438	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acrocallosal syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	2042439	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Acrocallosal syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	2042440	\N	\N	EFO	4	EFO	Rare genetic bone disease	Acrocallosal syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	2042441	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Acrocallosal syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	2042442	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acrocallosal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	5060068	\N	\N	EFO	7	EFO	disease	Acrocallosal syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	3192705	\N	\N	EFO	5	EFO	genetic disorder	Acrocallosal syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	3192706	\N	\N	EFO	5	EFO	bone disease	Acrocallosal syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	3192707	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrocallosal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	5877454	\N	\N	EFO	8	EFO	disposition	Acrocallosal syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	4399136	\N	\N	EFO	6	EFO	skeletal system disease	Acrocallosal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	6470686	\N	\N	EFO	9	EFO	material property	Acrocallosal syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	5416167	\N	\N	EFO	7	EFO	disease	Acrocallosal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:36	"Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." []	6848664	\N	\N	EFO	10	EFO	experimental factor	Acrocallosal syndrome
Orphanet:361	\N	\N	"" []	Orphanet:361	"" []	76973	\N	\N	EFO	0	EFO	Familial glucocorticoid deficiency	Familial glucocorticoid deficiency
Orphanet:101960	Orphanet:361	\N	"" []	Orphanet:361	"" []	220361	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	Familial glucocorticoid deficiency
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:361	"" []	576034	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Familial glucocorticoid deficiency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:361	"" []	1159121	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial glucocorticoid deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:361	"" []	2042443	\N	\N	EFO	4	EFO	genetic disorder	Familial glucocorticoid deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:361	"" []	2042444	\N	\N	EFO	4	EFO	endocrine system disease	Familial glucocorticoid deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:361	"" []	3192708	\N	\N	EFO	5	EFO	disease	Familial glucocorticoid deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:361	"" []	3192709	\N	\N	EFO	5	EFO	disease	Familial glucocorticoid deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:361	"" []	4399138	\N	\N	EFO	6	EFO	disposition	Familial glucocorticoid deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:361	"" []	5416168	\N	\N	EFO	7	EFO	material property	Familial glucocorticoid deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:361	"" []	6151772	\N	\N	EFO	8	EFO	experimental factor	Familial glucocorticoid deficiency
Orphanet:363203	\N	\N	"" []	Orphanet:363203	"" []	76974	\N	\N	EFO	0	EFO	Ring chromosome	Ring chromosome
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:363203	"" []	220362	\N	\N	EFO	1	EFO	Autosomal monosomy	Ring chromosome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:363203	"" []	576035	\N	\N	EFO	2	EFO	Autosomal anomaly	Ring chromosome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:363203	"" []	1159122	\N	\N	EFO	3	EFO	Chromosomal anomaly	Ring chromosome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363203	"" []	2042445	\N	\N	EFO	4	EFO	genetic disorder	Ring chromosome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363203	"" []	3192710	\N	\N	EFO	5	EFO	disease	Ring chromosome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363203	"" []	4399139	\N	\N	EFO	6	EFO	disposition	Ring chromosome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363203	"" []	5416169	\N	\N	EFO	7	EFO	material property	Ring chromosome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363203	"" []	6151773	\N	\N	EFO	8	EFO	experimental factor	Ring chromosome
Orphanet:363245	\N	\N	"" []	Orphanet:363245	"" []	76975	\N	\N	EFO	0	EFO	Genetic progeroid syndrome	Genetic progeroid syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:363245	"" []	220363	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Genetic progeroid syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363245	"" []	576036	\N	\N	EFO	2	EFO	genetic disorder	Genetic progeroid syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363245	"" []	1159123	\N	\N	EFO	3	EFO	disease	Genetic progeroid syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363245	"" []	2042446	\N	\N	EFO	4	EFO	disposition	Genetic progeroid syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363245	"" []	3192711	\N	\N	EFO	5	EFO	material property	Genetic progeroid syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363245	"" []	4399140	\N	\N	EFO	6	EFO	experimental factor	Genetic progeroid syndrome
Orphanet:363294	\N	\N	"" []	Orphanet:363294	"" []	76976	\N	\N	EFO	0	EFO	Genetic syndromic Pierre Robin syndrome	Genetic syndromic Pierre Robin syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:363294	"" []	220364	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Genetic syndromic Pierre Robin syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:363294	"" []	576037	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Genetic syndromic Pierre Robin syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:363294	"" []	1159124	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Genetic syndromic Pierre Robin syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:363294	"" []	2042447	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Genetic syndromic Pierre Robin syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363294	"" []	3192712	\N	\N	EFO	5	EFO	genetic disorder	Genetic syndromic Pierre Robin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363294	"" []	4399141	\N	\N	EFO	6	EFO	disease	Genetic syndromic Pierre Robin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363294	"" []	5416170	\N	\N	EFO	7	EFO	disposition	Genetic syndromic Pierre Robin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363294	"" []	6151774	\N	\N	EFO	8	EFO	material property	Genetic syndromic Pierre Robin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363294	"" []	6633790	\N	\N	EFO	9	EFO	experimental factor	Genetic syndromic Pierre Robin syndrome
Orphanet:363300	\N	\N	"" []	Orphanet:363300	"" []	76977	\N	\N	EFO	0	EFO	Genetic intractable diarrhea of infancy	Genetic intractable diarrhea of infancy
Orphanet:165655	Orphanet:363300	\N	"" []	Orphanet:363300	"" []	220365	\N	\N	EFO	1	EFO	Genetic intestinal disease	Genetic intractable diarrhea of infancy
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:363300	"" []	576038	\N	\N	EFO	2	EFO	digestive system disease	Genetic intractable diarrhea of infancy
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:363300	"" []	576039	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Genetic intractable diarrhea of infancy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363300	"" []	1159125	\N	\N	EFO	3	EFO	disease	Genetic intractable diarrhea of infancy
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363300	"" []	1159126	\N	\N	EFO	3	EFO	genetic disorder	Genetic intractable diarrhea of infancy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363300	"" []	3192714	\N	\N	EFO	5	EFO	disposition	Genetic intractable diarrhea of infancy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363300	"" []	2042449	\N	\N	EFO	4	EFO	disease	Genetic intractable diarrhea of infancy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363300	"" []	4133994	\N	\N	EFO	6	EFO	material property	Genetic intractable diarrhea of infancy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363300	"" []	5182842	\N	\N	EFO	7	EFO	experimental factor	Genetic intractable diarrhea of infancy
Orphanet:363306	\N	\N	"" []	Orphanet:363306	"" []	76978	\N	\N	EFO	0	EFO	Genetic intestinal disease due to fat malabsorption	Genetic intestinal disease due to fat malabsorption
Orphanet:165655	Orphanet:363306	\N	"" []	Orphanet:363306	"" []	220366	\N	\N	EFO	1	EFO	Genetic intestinal disease	Genetic intestinal disease due to fat malabsorption
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:363306	"" []	576040	\N	\N	EFO	2	EFO	digestive system disease	Genetic intestinal disease due to fat malabsorption
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:363306	"" []	576041	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Genetic intestinal disease due to fat malabsorption
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363306	"" []	1159127	\N	\N	EFO	3	EFO	disease	Genetic intestinal disease due to fat malabsorption
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363306	"" []	1159128	\N	\N	EFO	3	EFO	genetic disorder	Genetic intestinal disease due to fat malabsorption
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363306	"" []	3192716	\N	\N	EFO	5	EFO	disposition	Genetic intestinal disease due to fat malabsorption
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363306	"" []	2042451	\N	\N	EFO	4	EFO	disease	Genetic intestinal disease due to fat malabsorption
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363306	"" []	4133995	\N	\N	EFO	6	EFO	material property	Genetic intestinal disease due to fat malabsorption
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363306	"" []	5182843	\N	\N	EFO	7	EFO	experimental factor	Genetic intestinal disease due to fat malabsorption
Orphanet:363314	\N	\N	"" []	Orphanet:363314	"" []	76979	\N	\N	EFO	0	EFO	Genetic intestinal polyposis	Genetic intestinal polyposis
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:363314	"" []	220367	\N	\N	EFO	1	EFO	Genetic intestinal disease	Genetic intestinal polyposis
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:363314	"" []	576042	\N	\N	EFO	2	EFO	digestive system disease	Genetic intestinal polyposis
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:363314	"" []	576043	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Genetic intestinal polyposis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363314	"" []	1159129	\N	\N	EFO	3	EFO	disease	Genetic intestinal polyposis
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363314	"" []	1159130	\N	\N	EFO	3	EFO	genetic disorder	Genetic intestinal polyposis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363314	"" []	3192718	\N	\N	EFO	5	EFO	disposition	Genetic intestinal polyposis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363314	"" []	2042453	\N	\N	EFO	4	EFO	disease	Genetic intestinal polyposis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363314	"" []	4133996	\N	\N	EFO	6	EFO	material property	Genetic intestinal polyposis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363314	"" []	5182844	\N	\N	EFO	7	EFO	experimental factor	Genetic intestinal polyposis
Orphanet:363396	\N	\N	"" []	Orphanet:363396	"" []	76980	\N	\N	EFO	0	EFO	High myopia-sensorineural deafness syndrome	High myopia-sensorineural deafness syndrome
Orphanet:90642	Orphanet:363396	\N	"" []	Orphanet:363396	"" []	220368	\N	\N	EFO	1	EFO	Syndromic genetic deafness	High myopia-sensorineural deafness syndrome
Orphanet:98620	Orphanet:363396	\N	"" []	Orphanet:363396	"" []	220369	\N	\N	EFO	1	EFO	Syndromic myopia	High myopia-sensorineural deafness syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:363396	"" []	576044	\N	\N	EFO	2	EFO	Rare genetic deafness	High myopia-sensorineural deafness syndrome
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:363396	"" []	576045	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	High myopia-sensorineural deafness syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363396	"" []	1159131	\N	\N	EFO	3	EFO	genetic disorder	High myopia-sensorineural deafness syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:363396	"" []	1159132	\N	\N	EFO	3	EFO	auditory system disease	High myopia-sensorineural deafness syndrome
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:363396	"" []	1159133	\N	\N	EFO	3	EFO	Rare genetic eye disease	High myopia-sensorineural deafness syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363396	"" []	3192721	\N	\N	EFO	5	EFO	disease	High myopia-sensorineural deafness syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:363396	"" []	2042455	\N	\N	EFO	4	EFO	sensory system disease	High myopia-sensorineural deafness syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363396	"" []	2042456	\N	\N	EFO	4	EFO	genetic disorder	High myopia-sensorineural deafness syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363396	"" []	2042457	\N	\N	EFO	4	EFO	eye disease	High myopia-sensorineural deafness syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363396	"" []	5416172	\N	\N	EFO	7	EFO	disposition	High myopia-sensorineural deafness syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363396	"" []	3192720	\N	\N	EFO	5	EFO	nervous system disease	High myopia-sensorineural deafness syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363396	"" []	3192722	\N	\N	EFO	5	EFO	disease	High myopia-sensorineural deafness syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363396	"" []	5877455	\N	\N	EFO	8	EFO	material property	High myopia-sensorineural deafness syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363396	"" []	4399146	\N	\N	EFO	6	EFO	disease	High myopia-sensorineural deafness syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363396	"" []	6470687	\N	\N	EFO	9	EFO	experimental factor	High myopia-sensorineural deafness syndrome
Orphanet:363400	\N	\N	"" []	Orphanet:363400	"" []	76981	\N	\N	EFO	0	EFO	Severe neurodegenerative syndrome with lipodystrophy	Severe neurodegenerative syndrome with lipodystrophy
Orphanet:183500	Orphanet:363400	\N	"" []	Orphanet:363400	"" []	220370	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Severe neurodegenerative syndrome with lipodystrophy
Orphanet:98305	Orphanet:363400	\N	"" []	Orphanet:363400	"" []	220371	\N	\N	EFO	1	EFO	Genetic lipodystrophy	Severe neurodegenerative syndrome with lipodystrophy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:363400	"" []	576046	\N	\N	EFO	2	EFO	neurodegenerative disease	Severe neurodegenerative syndrome with lipodystrophy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:363400	"" []	576047	\N	\N	EFO	2	EFO	brain disease	Severe neurodegenerative syndrome with lipodystrophy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:363400	"" []	576048	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Severe neurodegenerative syndrome with lipodystrophy
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:363400	"" []	576049	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Severe neurodegenerative syndrome with lipodystrophy
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:363400	"" []	576050	\N	\N	EFO	2	EFO	Primary lipodystrophy	Severe neurodegenerative syndrome with lipodystrophy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363400	"" []	1159134	\N	\N	EFO	3	EFO	nervous system disease	Severe neurodegenerative syndrome with lipodystrophy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363400	"" []	1159135	\N	\N	EFO	3	EFO	nervous system disease	Severe neurodegenerative syndrome with lipodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363400	"" []	1159136	\N	\N	EFO	3	EFO	genetic disorder	Severe neurodegenerative syndrome with lipodystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363400	"" []	1159137	\N	\N	EFO	3	EFO	genetic disorder	Severe neurodegenerative syndrome with lipodystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:363400	"" []	1159138	\N	\N	EFO	3	EFO	endocrine system disease	Severe neurodegenerative syndrome with lipodystrophy
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:363400	"" []	1159139	\N	\N	EFO	3	EFO	Genetic subcutaneous tissue disorder	Severe neurodegenerative syndrome with lipodystrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363400	"" []	2042458	\N	\N	EFO	4	EFO	disease	Severe neurodegenerative syndrome with lipodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363400	"" []	4399148	\N	\N	EFO	6	EFO	disease	Severe neurodegenerative syndrome with lipodystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363400	"" []	2042460	\N	\N	EFO	4	EFO	disease	Severe neurodegenerative syndrome with lipodystrophy
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:363400	"" []	2042461	\N	\N	EFO	4	EFO	Rare genetic skin disease	Severe neurodegenerative syndrome with lipodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363400	"" []	5060069	\N	\N	EFO	7	EFO	disposition	Severe neurodegenerative syndrome with lipodystrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363400	"" []	3192724	\N	\N	EFO	5	EFO	genetic disorder	Severe neurodegenerative syndrome with lipodystrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:363400	"" []	3192725	\N	\N	EFO	5	EFO	skin disease	Severe neurodegenerative syndrome with lipodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363400	"" []	5877456	\N	\N	EFO	8	EFO	material property	Severe neurodegenerative syndrome with lipodystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363400	"" []	4399149	\N	\N	EFO	6	EFO	disease	Severe neurodegenerative syndrome with lipodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363400	"" []	6470688	\N	\N	EFO	9	EFO	experimental factor	Severe neurodegenerative syndrome with lipodystrophy
Orphanet:363409	\N	\N	"" []	Orphanet:363409	"" []	76982	\N	\N	EFO	0	EFO	Fetal akinesia-cerebral and retinal hemorrhage syndrome	Fetal akinesia-cerebral and retinal hemorrhage syndrome
Orphanet:97245	Orphanet:363409	\N	"" []	Orphanet:363409	"" []	220372	\N	\N	EFO	1	EFO	Congenital myopathy	Fetal akinesia-cerebral and retinal hemorrhage syndrome
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:363409	"" []	576051	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Fetal akinesia-cerebral and retinal hemorrhage syndrome
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:363409	"" []	1159140	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Fetal akinesia-cerebral and retinal hemorrhage syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:363409	"" []	2042462	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Fetal akinesia-cerebral and retinal hemorrhage syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:363409	"" []	3192726	\N	\N	EFO	5	EFO	muscular disease	Fetal akinesia-cerebral and retinal hemorrhage syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:363409	"" []	3192727	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Fetal akinesia-cerebral and retinal hemorrhage syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:363409	"" []	4399150	\N	\N	EFO	6	EFO	skeletal system disease	Fetal akinesia-cerebral and retinal hemorrhage syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363409	"" []	4399151	\N	\N	EFO	6	EFO	genetic disorder	Fetal akinesia-cerebral and retinal hemorrhage syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363409	"" []	5416174	\N	\N	EFO	7	EFO	disease	Fetal akinesia-cerebral and retinal hemorrhage syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363409	"" []	5416175	\N	\N	EFO	7	EFO	disease	Fetal akinesia-cerebral and retinal hemorrhage syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363409	"" []	6151775	\N	\N	EFO	8	EFO	disposition	Fetal akinesia-cerebral and retinal hemorrhage syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363409	"" []	6633791	\N	\N	EFO	9	EFO	material property	Fetal akinesia-cerebral and retinal hemorrhage syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363409	"" []	6926126	\N	\N	EFO	10	EFO	experimental factor	Fetal akinesia-cerebral and retinal hemorrhage syndrome
Orphanet:363412	\N	\N	"" []	Orphanet:363412	"" []	76983	\N	\N	EFO	0	EFO	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Orphanet:68356	Orphanet:363412	\N	"" []	Orphanet:363412	"" []	220373	\N	\N	EFO	1	EFO	Leukodystrophy	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:363412	"" []	576052	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363412	"" []	1159141	\N	\N	EFO	3	EFO	genetic disorder	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363412	"" []	2042463	\N	\N	EFO	4	EFO	disease	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363412	"" []	3192728	\N	\N	EFO	5	EFO	disposition	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363412	"" []	4399152	\N	\N	EFO	6	EFO	material property	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363412	"" []	5416176	\N	\N	EFO	7	EFO	experimental factor	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Orphanet:363417	\N	\N	"" []	Orphanet:363417	"" []	76984	\N	\N	EFO	0	EFO	Temtamy preaxial brachydactyly syndrome	Temtamy preaxial brachydactyly syndrome
Orphanet:309450	Orphanet:363417	\N	"" []	Orphanet:363417	"" []	220374	\N	\N	EFO	1	EFO	Disorder of O-xylosylglycan synthesis	Temtamy preaxial brachydactyly syndrome
Orphanet:371064	Orphanet:363417	\N	"" []	Orphanet:363417	"" []	220375	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Temtamy preaxial brachydactyly syndrome
Orphanet:371195	Orphanet:363417	\N	"" []	Orphanet:363417	"" []	220376	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation-related bone disorder	Temtamy preaxial brachydactyly syndrome
Orphanet:371212	Orphanet:363417	\N	"" []	Orphanet:363417	"" []	220377	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with deafness as a major feature	Temtamy preaxial brachydactyly syndrome
Orphanet:69028	Orphanet:363417	\N	"" []	Orphanet:363417	"" []	220378	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Temtamy preaxial brachydactyly syndrome
Orphanet:309447	Orphanet:309450	\N	"" []	Orphanet:363417	"" []	576053	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Temtamy preaxial brachydactyly syndrome
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:363417	"" []	576054	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Temtamy preaxial brachydactyly syndrome
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:363417	"" []	576055	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Temtamy preaxial brachydactyly syndrome
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:363417	"" []	576056	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Temtamy preaxial brachydactyly syndrome
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:363417	"" []	576057	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Temtamy preaxial brachydactyly syndrome
Orphanet:371235	Orphanet:371212	\N	"" []	Orphanet:363417	"" []	576058	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Temtamy preaxial brachydactyly syndrome
Orphanet:90642	Orphanet:371212	\N	"" []	Orphanet:363417	"" []	576059	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Temtamy preaxial brachydactyly syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:363417	"" []	576060	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Temtamy preaxial brachydactyly syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:363417	"" []	576061	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Temtamy preaxial brachydactyly syndrome
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:363417	"" []	1159142	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Temtamy preaxial brachydactyly syndrome
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:363417	"" []	1159143	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Temtamy preaxial brachydactyly syndrome
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:363417	"" []	1159144	\N	\N	EFO	3	EFO	Neurometabolic disease	Temtamy preaxial brachydactyly syndrome
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:363417	"" []	1159145	\N	\N	EFO	3	EFO	Rare genetic bone disease	Temtamy preaxial brachydactyly syndrome
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:363417	"" []	1159146	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Temtamy preaxial brachydactyly syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:363417	"" []	1159147	\N	\N	EFO	3	EFO	Rare genetic deafness	Temtamy preaxial brachydactyly syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:363417	"" []	1159148	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Temtamy preaxial brachydactyly syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:363417	"" []	1159149	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Temtamy preaxial brachydactyly syndrome
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:363417	"" []	2042464	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Temtamy preaxial brachydactyly syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:363417	"" []	2042465	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Temtamy preaxial brachydactyly syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:363417	"" []	2042466	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Temtamy preaxial brachydactyly syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363417	"" []	3192737	\N	\N	EFO	5	EFO	genetic disorder	Temtamy preaxial brachydactyly syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:363417	"" []	3192738	\N	\N	EFO	5	EFO	bone disease	Temtamy preaxial brachydactyly syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:363417	"" []	2042469	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Temtamy preaxial brachydactyly syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363417	"" []	2042470	\N	\N	EFO	4	EFO	genetic disorder	Temtamy preaxial brachydactyly syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:363417	"" []	2042471	\N	\N	EFO	4	EFO	auditory system disease	Temtamy preaxial brachydactyly syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:363417	"" []	2042472	\N	\N	EFO	4	EFO	Rare genetic bone disease	Temtamy preaxial brachydactyly syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:363417	"" []	2042473	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Temtamy preaxial brachydactyly syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:363417	"" []	2042474	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Temtamy preaxial brachydactyly syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363417	"" []	3192729	\N	\N	EFO	5	EFO	genetic disorder	Temtamy preaxial brachydactyly syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:363417	"" []	3192730	\N	\N	EFO	5	EFO	metabolic disease	Temtamy preaxial brachydactyly syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:363417	"" []	3192731	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Temtamy preaxial brachydactyly syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363417	"" []	4399154	\N	\N	EFO	6	EFO	genetic disorder	Temtamy preaxial brachydactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363417	"" []	5182846	\N	\N	EFO	7	EFO	disease	Temtamy preaxial brachydactyly syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:363417	"" []	4133999	\N	\N	EFO	6	EFO	skeletal system disease	Temtamy preaxial brachydactyly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363417	"" []	4399158	\N	\N	EFO	6	EFO	genetic disorder	Temtamy preaxial brachydactyly syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:363417	"" []	3192736	\N	\N	EFO	5	EFO	sensory system disease	Temtamy preaxial brachydactyly syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:363417	"" []	3192739	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Temtamy preaxial brachydactyly syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363417	"" []	4399153	\N	\N	EFO	6	EFO	disease	Temtamy preaxial brachydactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363417	"" []	5877457	\N	\N	EFO	8	EFO	disposition	Temtamy preaxial brachydactyly syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363417	"" []	5182848	\N	\N	EFO	7	EFO	disease	Temtamy preaxial brachydactyly syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363417	"" []	4399157	\N	\N	EFO	6	EFO	nervous system disease	Temtamy preaxial brachydactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363417	"" []	6470689	\N	\N	EFO	9	EFO	material property	Temtamy preaxial brachydactyly syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363417	"" []	5416178	\N	\N	EFO	7	EFO	disease	Temtamy preaxial brachydactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363417	"" []	6848665	\N	\N	EFO	10	EFO	experimental factor	Temtamy preaxial brachydactyly syndrome
Orphanet:363424	\N	\N	"" []	Orphanet:363424	"" []	76985	\N	\N	EFO	0	EFO	Hypotonia-cerebral atrophy-hyperglycinemia syndrome	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:289573	Orphanet:363424	\N	"" []	Orphanet:363424	"" []	220379	\N	\N	EFO	1	EFO	Fatal multiple mitochondrial dysfunction syndrome	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:68385	Orphanet:363424	\N	"" []	Orphanet:363424	"" []	220380	\N	\N	EFO	1	EFO	Neurometabolic disease	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:309136	Orphanet:289573	\N	"" []	Orphanet:363424	"" []	576062	\N	\N	EFO	2	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:401854	Orphanet:289573	\N	"" []	Orphanet:363424	"" []	576063	\N	\N	EFO	2	EFO	Lipoic acid biosynthesis defect	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:363424	"" []	576064	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:363424	"" []	1159150	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:68380	Orphanet:401854	\N	"" []	Orphanet:363424	"" []	1159151	\N	\N	EFO	3	EFO	Mitochondrial disease	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363424	"" []	1159152	\N	\N	EFO	3	EFO	genetic disorder	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:363424	"" []	2042475	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:363424	"" []	4399159	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:363424	"" []	4399160	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363424	"" []	6470690	\N	\N	EFO	9	EFO	disease	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:363424	"" []	3192740	\N	\N	EFO	5	EFO	Mitochondrial disease	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:363424	"" []	5060070	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:363424	"" []	5060071	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363424	"" []	6762389	\N	\N	EFO	10	EFO	disposition	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363424	"" []	5877458	\N	\N	EFO	8	EFO	genetic disorder	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363424	"" []	5877459	\N	\N	EFO	8	EFO	genetic disorder	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:363424	"" []	5877460	\N	\N	EFO	8	EFO	metabolic disease	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363424	"" []	7015701	\N	\N	EFO	11	EFO	material property	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363424	"" []	6470691	\N	\N	EFO	9	EFO	disease	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363424	"" []	7173649	\N	\N	EFO	12	EFO	experimental factor	Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Orphanet:363429	\N	\N	"" []	Orphanet:363429	"" []	76986	\N	\N	EFO	0	EFO	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:79166	Orphanet:363429	\N	"" []	Orphanet:363429	"" []	220381	\N	\N	EFO	1	EFO	Disorder of amino acid absorption and transport	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:98096	Orphanet:363429	\N	"" []	Orphanet:363429	"" []	220382	\N	\N	EFO	1	EFO	Autosomal recessive metabolic cerebellar ataxia	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:363429	"" []	576065	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:1172	Orphanet:98096	\N	"" []	Orphanet:363429	"" []	576066	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:363429	"" []	1159153	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:363429	"" []	1159154	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:363429	"" []	1159155	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:363429	"" []	1159156	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363429	"" []	2042479	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:363429	"" []	2042480	\N	\N	EFO	4	EFO	metabolic disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:363429	"" []	2042481	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:363429	"" []	2042482	\N	\N	EFO	4	EFO	Ataxia with dementia	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:363429	"" []	2042483	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363429	"" []	6410201	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363429	"" []	3192745	\N	\N	EFO	5	EFO	disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363429	"" []	6151779	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:363429	"" []	3192747	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:363429	"" []	3192748	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363429	"" []	6778768	\N	\N	EFO	10	EFO	disposition	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:363429	"" []	4399167	\N	\N	EFO	6	EFO	Genetic dementia	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:363429	"" []	4399168	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:363429	"" []	4399169	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363429	"" []	7029964	\N	\N	EFO	11	EFO	material property	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:363429	"" []	5416183	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:363429	"" []	5416184	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:363429	"" []	5416185	\N	\N	EFO	7	EFO	neurodegenerative disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:363429	"" []	5416186	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:363429	"" []	5416187	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363429	"" []	5416188	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363429	"" []	5416189	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363429	"" []	7181809	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363429	"" []	6151778	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363429	"" []	6151780	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363429	"" []	6151782	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363429	"" []	6633792	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Orphanet:363432	\N	\N	"" []	Orphanet:363432	"" []	76987	\N	\N	EFO	0	EFO	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:363429	Orphanet:363432	\N	"" []	Orphanet:363432	"" []	220383	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:79166	Orphanet:363429	\N	"" []	Orphanet:363432	"" []	576067	\N	\N	EFO	2	EFO	Disorder of amino acid absorption and transport	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:98096	Orphanet:363429	\N	"" []	Orphanet:363432	"" []	576068	\N	\N	EFO	2	EFO	Autosomal recessive metabolic cerebellar ataxia	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:363432	"" []	1159157	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:1172	Orphanet:98096	\N	"" []	Orphanet:363432	"" []	1159158	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:363432	"" []	2042484	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:363432	"" []	2042485	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:363432	"" []	2042486	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:363432	"" []	2042487	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363432	"" []	3192749	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:363432	"" []	3192750	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:363432	"" []	3192751	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:363432	"" []	3192752	\N	\N	EFO	5	EFO	Ataxia with dementia	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:363432	"" []	3192753	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363432	"" []	6808033	\N	\N	EFO	10	EFO	disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363432	"" []	4399171	\N	\N	EFO	6	EFO	disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363432	"" []	6633795	\N	\N	EFO	9	EFO	genetic disorder	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:363432	"" []	4399173	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:363432	"" []	4399174	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363432	"" []	7029965	\N	\N	EFO	11	EFO	disposition	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:363432	"" []	5416192	\N	\N	EFO	7	EFO	Genetic dementia	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:363432	"" []	5416193	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:363432	"" []	5416194	\N	\N	EFO	7	EFO	Rare genetic eye disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363432	"" []	7181810	\N	\N	EFO	12	EFO	material property	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:363432	"" []	6151784	\N	\N	EFO	8	EFO	brain disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:363432	"" []	6151785	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:363432	"" []	6151786	\N	\N	EFO	8	EFO	neurodegenerative disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:363432	"" []	6151787	\N	\N	EFO	8	EFO	brain disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:363432	"" []	6151788	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363432	"" []	6151789	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363432	"" []	6151790	\N	\N	EFO	8	EFO	eye disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363432	"" []	7279099	\N	\N	EFO	13	EFO	experimental factor	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363432	"" []	6633794	\N	\N	EFO	9	EFO	nervous system disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363432	"" []	6633796	\N	\N	EFO	9	EFO	nervous system disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363432	"" []	6633798	\N	\N	EFO	9	EFO	disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363432	"" []	6926127	\N	\N	EFO	10	EFO	disease	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Orphanet:363444	\N	\N	"" []	Orphanet:363444	"" []	76988	\N	\N	EFO	0	EFO	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Orphanet:102283	Orphanet:363444	\N	"" []	Orphanet:363444	"" []	220384	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Orphanet:183763	Orphanet:363444	\N	"" []	Orphanet:363444	"" []	220385	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:363444	"" []	576069	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:363444	"" []	576070	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:363444	"" []	1159159	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:363444	"" []	1159160	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363444	"" []	2042488	\N	\N	EFO	4	EFO	genetic disorder	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363444	"" []	2042489	\N	\N	EFO	4	EFO	genetic disorder	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363444	"" []	3192754	\N	\N	EFO	5	EFO	disease	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363444	"" []	4399175	\N	\N	EFO	6	EFO	disposition	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363444	"" []	5416195	\N	\N	EFO	7	EFO	material property	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363444	"" []	6151791	\N	\N	EFO	8	EFO	experimental factor	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Orphanet:363447	\N	\N	"" []	Orphanet:363447	"" []	76989	\N	\N	EFO	0	EFO	Autosomal dominant childhood-onset proximal spinal muscular atrophy	Autosomal dominant childhood-onset proximal spinal muscular atrophy
Orphanet:211037	Orphanet:363447	\N	"" []	Orphanet:363447	"" []	220386	\N	\N	EFO	1	EFO	Autosomal dominant proximal spinal muscular atrophy	Autosomal dominant childhood-onset proximal spinal muscular atrophy
Orphanet:98505	Orphanet:211037	\N	"" []	Orphanet:363447	"" []	576071	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:363447	"" []	1159161	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:363447	"" []	2042490	\N	\N	EFO	4	EFO	muscular disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:363447	"" []	2042491	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant childhood-onset proximal spinal muscular atrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:363447	"" []	3192755	\N	\N	EFO	5	EFO	skeletal system disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363447	"" []	3192756	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant childhood-onset proximal spinal muscular atrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363447	"" []	4399176	\N	\N	EFO	6	EFO	disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363447	"" []	4399177	\N	\N	EFO	6	EFO	disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363447	"" []	5416196	\N	\N	EFO	7	EFO	disposition	Autosomal dominant childhood-onset proximal spinal muscular atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363447	"" []	6151792	\N	\N	EFO	8	EFO	material property	Autosomal dominant childhood-onset proximal spinal muscular atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363447	"" []	6633799	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant childhood-onset proximal spinal muscular atrophy
Orphanet:363454	\N	\N	"" []	Orphanet:363454	"" []	76990	\N	\N	EFO	0	EFO	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Orphanet:363447	Orphanet:363454	\N	"" []	Orphanet:363454	"" []	220387	\N	\N	EFO	1	EFO	Autosomal dominant childhood-onset proximal spinal muscular atrophy	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Orphanet:211037	Orphanet:363447	\N	"" []	Orphanet:363454	"" []	576072	\N	\N	EFO	2	EFO	Autosomal dominant proximal spinal muscular atrophy	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Orphanet:98505	Orphanet:211037	\N	"" []	Orphanet:363454	"" []	1159162	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:363454	"" []	2042492	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:363454	"" []	3192757	\N	\N	EFO	5	EFO	muscular disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:363454	"" []	3192758	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:363454	"" []	4399178	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363454	"" []	4399179	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363454	"" []	5416197	\N	\N	EFO	7	EFO	disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363454	"" []	5416198	\N	\N	EFO	7	EFO	disease	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363454	"" []	6151793	\N	\N	EFO	8	EFO	disposition	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363454	"" []	6633800	\N	\N	EFO	9	EFO	material property	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363454	"" []	6926128	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Orphanet:363523	\N	\N	"" []	Orphanet:363523	"" []	76991	\N	\N	EFO	0	EFO	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Orphanet:183763	Orphanet:363523	\N	"" []	Orphanet:363523	"" []	220388	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Orphanet:307804	Orphanet:363523	\N	"" []	Orphanet:363523	"" []	220389	\N	\N	EFO	1	EFO	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:363523	"" []	576073	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Orphanet:307711	Orphanet:307804	\N	"" []	Orphanet:363523	"" []	576074	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:363523	"" []	1159163	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:363523	"" []	1159164	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363523	"" []	2042493	\N	\N	EFO	4	EFO	genetic disorder	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:363523	"" []	2042494	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363523	"" []	6151795	\N	\N	EFO	8	EFO	disease	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:363523	"" []	3192760	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363523	"" []	6410202	\N	\N	EFO	9	EFO	disposition	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:363523	"" []	4399181	\N	\N	EFO	6	EFO	Rare genetic skin disease	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363523	"" []	6808034	\N	\N	EFO	10	EFO	material property	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363523	"" []	5416200	\N	\N	EFO	7	EFO	genetic disorder	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:363523	"" []	5416201	\N	\N	EFO	7	EFO	skin disease	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363523	"" []	7048734	\N	\N	EFO	11	EFO	experimental factor	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363523	"" []	6151796	\N	\N	EFO	8	EFO	disease	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Orphanet:363528	\N	\N	"" []	Orphanet:363528	"" []	76992	\N	\N	EFO	0	EFO	Intellectual disability-strabismus syndrome	Intellectual disability-strabismus syndrome
Orphanet:183763	Orphanet:363528	\N	"" []	Orphanet:363528	"" []	220390	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability-strabismus syndrome
Orphanet:98683	Orphanet:363528	\N	"" []	Orphanet:363528	"" []	220391	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Intellectual disability-strabismus syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:363528	"" []	576075	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability-strabismus syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:363528	"" []	576076	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Intellectual disability-strabismus syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:363528	"" []	1159165	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability-strabismus syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:363528	"" []	1159166	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Intellectual disability-strabismus syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363528	"" []	2042495	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-strabismus syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:363528	"" []	2042496	\N	\N	EFO	4	EFO	Rare genetic eye disease	Intellectual disability-strabismus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363528	"" []	4399183	\N	\N	EFO	6	EFO	disease	Intellectual disability-strabismus syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363528	"" []	3192762	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability-strabismus syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363528	"" []	3192763	\N	\N	EFO	5	EFO	eye disease	Intellectual disability-strabismus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363528	"" []	5182850	\N	\N	EFO	7	EFO	disposition	Intellectual disability-strabismus syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363528	"" []	4399184	\N	\N	EFO	6	EFO	disease	Intellectual disability-strabismus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363528	"" []	5998222	\N	\N	EFO	8	EFO	material property	Intellectual disability-strabismus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363528	"" []	6551465	\N	\N	EFO	9	EFO	experimental factor	Intellectual disability-strabismus syndrome
Orphanet:363534	\N	\N	"" []	Orphanet:363534	"" []	76993	\N	\N	EFO	0	EFO	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:101940	Orphanet:363534	\N	"" []	Orphanet:363534	"" []	220392	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:183592	Orphanet:363534	\N	"" []	Orphanet:363534	"" []	220393	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:254871	Orphanet:363534	\N	"" []	Orphanet:363534	"" []	220394	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome, hepatocerebral form	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:68385	Orphanet:363534	\N	"" []	Orphanet:363534	"" []	220395	\N	\N	EFO	1	EFO	Neurometabolic disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:363534	"" []	576077	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:363534	"" []	576078	\N	\N	EFO	2	EFO	Rare genetic renal disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:35698	Orphanet:254871	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:363534	"" []	576079	\N	\N	EFO	2	EFO	Mitochondrial DNA depletion syndrome	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:363534	"" []	576080	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:363534	"" []	1159167	\N	\N	EFO	3	EFO	digestive system disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363534	"" []	1159168	\N	\N	EFO	3	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363534	"" []	1159169	\N	\N	EFO	3	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:363534	"" []	1159170	\N	\N	EFO	3	EFO	Metabolic disease with intestinal involvement	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:363534	"" []	1159171	\N	\N	EFO	3	EFO	Mitochondrial myopathy	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:363534	"" []	1159172	\N	\N	EFO	3	EFO	Mitochondrial DNA maintenance syndrome	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:363534	"" []	1159173	\N	\N	EFO	3	EFO	Mitochondrial disease with eye involvement	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363534	"" []	6926130	\N	\N	EFO	10	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363534	"" []	4399186	\N	\N	EFO	6	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363534	"" []	7007012	\N	\N	EFO	11	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:363534	"" []	2042499	\N	\N	EFO	4	EFO	Genetic intestinal disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:363534	"" []	2042500	\N	\N	EFO	4	EFO	Muscular lipidosis	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:363534	"" []	2042501	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:363534	"" []	2042502	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363534	"" []	7164489	\N	\N	EFO	12	EFO	disposition	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:363534	"" []	3192765	\N	\N	EFO	5	EFO	digestive system disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:363534	"" []	3192766	\N	\N	EFO	5	EFO	Rare genetic gastroenterological disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:363534	"" []	3192767	\N	\N	EFO	5	EFO	Metabolic myopathy	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:363534	"" []	3192768	\N	\N	EFO	5	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:363534	"" []	3192769	\N	\N	EFO	5	EFO	Rare genetic eye disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363534	"" []	7269843	\N	\N	EFO	13	EFO	material property	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363534	"" []	4399187	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:363534	"" []	4399188	\N	\N	EFO	6	EFO	Non-dystrophic myopathy	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:363534	"" []	4399189	\N	\N	EFO	6	EFO	Mitochondrial disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363534	"" []	4399190	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363534	"" []	4399191	\N	\N	EFO	6	EFO	eye disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363534	"" []	7347607	\N	\N	EFO	14	EFO	experimental factor	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:363534	"" []	5416205	\N	\N	EFO	7	EFO	Genetic skeletal muscle disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:363534	"" []	5416206	\N	\N	EFO	7	EFO	Developmental anomaly of metabolic origin	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:363534	"" []	5416207	\N	\N	EFO	7	EFO	Disorder of energy metabolism	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363534	"" []	5416208	\N	\N	EFO	7	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:363534	"" []	6151798	\N	\N	EFO	8	EFO	Genetic neuromuscular disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:363534	"" []	6151799	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:363534	"" []	6151800	\N	\N	EFO	8	EFO	Inborn errors of metabolism	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:363534	"" []	6633801	\N	\N	EFO	9	EFO	muscular disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:363534	"" []	6633802	\N	\N	EFO	9	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363534	"" []	6633803	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363534	"" []	6633804	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:363534	"" []	6633805	\N	\N	EFO	9	EFO	metabolic disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:363534	"" []	6926129	\N	\N	EFO	10	EFO	skeletal system disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363534	"" []	6926132	\N	\N	EFO	10	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363534	"" []	7099285	\N	\N	EFO	11	EFO	disease	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Orphanet:363540	\N	\N	"" []	Orphanet:363540	"" []	76994	\N	\N	EFO	0	EFO	Leukoencephalopathy with mild cerebellar ataxia and white matter edema	Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Orphanet:68356	Orphanet:363540	\N	"" []	Orphanet:363540	"" []	220396	\N	\N	EFO	1	EFO	Leukodystrophy	Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:363540	"" []	576081	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Leukoencephalopathy with mild cerebellar ataxia and white matter edema
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363540	"" []	1159175	\N	\N	EFO	3	EFO	genetic disorder	Leukoencephalopathy with mild cerebellar ataxia and white matter edema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363540	"" []	2042503	\N	\N	EFO	4	EFO	disease	Leukoencephalopathy with mild cerebellar ataxia and white matter edema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363540	"" []	3192770	\N	\N	EFO	5	EFO	disposition	Leukoencephalopathy with mild cerebellar ataxia and white matter edema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363540	"" []	4399192	\N	\N	EFO	6	EFO	material property	Leukoencephalopathy with mild cerebellar ataxia and white matter edema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363540	"" []	5416209	\N	\N	EFO	7	EFO	experimental factor	Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Orphanet:363543	\N	\N	"" []	Orphanet:363543	"" []	76995	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Orphanet:102015	Orphanet:363543	\N	"" []	Orphanet:363543	"" []	220397	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Orphanet:209041	Orphanet:363543	\N	"" []	Orphanet:363543	"" []	220398	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of desmin	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:363543	"" []	576082	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Orphanet:209038	Orphanet:209041	\N	"" []	Orphanet:363543	"" []	576083	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of myofibrillar proteins	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:363543	"" []	1159176	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:363543	"" []	1159177	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:363543	"" []	2042504	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:363543	"" []	2042505	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:363543	"" []	3192771	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:363543	"" []	5416210	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:363543	"" []	5416211	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:363543	"" []	4399193	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:363543	"" []	5877462	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363543	"" []	5877463	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363543	"" []	6470693	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363543	"" []	6470694	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363543	"" []	6848666	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363543	"" []	7068496	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363543	"" []	7197168	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Orphanet:36355	\N	\N	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	Orphanet:36355	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	76996	\N	\N	EFO	0	EFO	P2Y12 defect	P2Y12 defect
Orphanet:275736	Orphanet:36355	\N	"" []	Orphanet:36355	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	220399	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a platelet receptor defect	P2Y12 defect
Orphanet:71202	Orphanet:275736	\N	"" []	Orphanet:36355	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	576084	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	P2Y12 defect
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:36355	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	1159178	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	P2Y12 defect
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:36355	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	2042506	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	P2Y12 defect
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:36355	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	3192774	\N	\N	EFO	5	EFO	genetic disorder	P2Y12 defect
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:36355	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	3192775	\N	\N	EFO	5	EFO	hematological system disease	P2Y12 defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:36355	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	4399196	\N	\N	EFO	6	EFO	disease	P2Y12 defect
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:36355	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	4399197	\N	\N	EFO	6	EFO	disease	P2Y12 defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:36355	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	5416214	\N	\N	EFO	7	EFO	disposition	P2Y12 defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:36355	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	6151802	\N	\N	EFO	8	EFO	material property	P2Y12 defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:36355	"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." []	6633807	\N	\N	EFO	9	EFO	experimental factor	P2Y12 defect
Orphanet:363611	\N	\N	"" []	Orphanet:363611	"" []	76997	\N	\N	EFO	0	EFO	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Orphanet:102283	Orphanet:363611	\N	"" []	Orphanet:363611	"" []	220400	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Orphanet:183763	Orphanet:363611	\N	"" []	Orphanet:363611	"" []	220401	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:363611	"" []	576085	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:363611	"" []	576086	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:363611	"" []	1159179	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:363611	"" []	1159180	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363611	"" []	2042507	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363611	"" []	2042508	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363611	"" []	3192776	\N	\N	EFO	5	EFO	disease	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363611	"" []	4399198	\N	\N	EFO	6	EFO	disposition	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363611	"" []	5416215	\N	\N	EFO	7	EFO	material property	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363611	"" []	6151803	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Orphanet:363618	\N	\N	"" []	Orphanet:363618	"" []	76998	\N	\N	EFO	0	EFO	LMNA-related cardiocutaneous progeria syndrome	LMNA-related cardiocutaneous progeria syndrome
Orphanet:79389	Orphanet:363618	\N	"" []	Orphanet:363618	"" []	220402	\N	\N	EFO	1	EFO	Premature aging	LMNA-related cardiocutaneous progeria syndrome
Orphanet:98054	Orphanet:363618	\N	"" []	Orphanet:363618	"" []	220403	\N	\N	EFO	1	EFO	Rare genetic cardiac disease	LMNA-related cardiocutaneous progeria syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:363618	"" []	576087	\N	\N	EFO	2	EFO	Rare genetic skin disease	LMNA-related cardiocutaneous progeria syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363618	"" []	576088	\N	\N	EFO	2	EFO	genetic disorder	LMNA-related cardiocutaneous progeria syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:363618	"" []	576089	\N	\N	EFO	2	EFO	heart disease	LMNA-related cardiocutaneous progeria syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363618	"" []	1159181	\N	\N	EFO	3	EFO	genetic disorder	LMNA-related cardiocutaneous progeria syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:363618	"" []	1159182	\N	\N	EFO	3	EFO	skin disease	LMNA-related cardiocutaneous progeria syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363618	"" []	2042509	\N	\N	EFO	4	EFO	disease	LMNA-related cardiocutaneous progeria syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:363618	"" []	1159184	\N	\N	EFO	3	EFO	cardiovascular disease	LMNA-related cardiocutaneous progeria syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363618	"" []	2042510	\N	\N	EFO	4	EFO	disease	LMNA-related cardiocutaneous progeria syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363618	"" []	3000338	\N	\N	EFO	5	EFO	disposition	LMNA-related cardiocutaneous progeria syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363618	"" []	2042512	\N	\N	EFO	4	EFO	disease	LMNA-related cardiocutaneous progeria syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363618	"" []	4134000	\N	\N	EFO	6	EFO	material property	LMNA-related cardiocutaneous progeria syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363618	"" []	5182851	\N	\N	EFO	7	EFO	experimental factor	LMNA-related cardiocutaneous progeria syndrome
Orphanet:363623	\N	\N	"" []	Orphanet:363623	"" []	76999	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2T	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:102015	Orphanet:363623	\N	"" []	Orphanet:363623	"" []	220404	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:309469	Orphanet:363623	\N	"" []	Orphanet:363623	"" []	220405	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:371064	Orphanet:363623	\N	"" []	Orphanet:363623	"" []	220406	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:363623	"" []	576090	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:363623	"" []	576091	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:363623	"" []	576092	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:363623	"" []	576093	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:363623	"" []	1159185	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:363623	"" []	1159186	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:363623	"" []	1159187	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:363623	"" []	1159188	\N	\N	EFO	3	EFO	Neurometabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:363623	"" []	2042513	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:363623	"" []	2042514	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:363623	"" []	2042515	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:363623	"" []	2042516	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:363623	"" []	3192778	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2T
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363623	"" []	3192779	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2T
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:363623	"" []	3192780	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:363623	"" []	3192781	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2T
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363623	"" []	6151805	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:363623	"" []	4399200	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2T
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363623	"" []	6410204	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2T
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363623	"" []	4399202	\N	\N	EFO	6	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2T
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:363623	"" []	5416216	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:363623	"" []	5416217	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2T
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363623	"" []	6808036	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2T
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:363623	"" []	6151804	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2T
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363623	"" []	7048735	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2T
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363623	"" []	6633808	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2T
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363623	"" []	7190244	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2T
Orphanet:363649	\N	\N	"" []	Orphanet:363649	"" []	77000	\N	\N	EFO	0	EFO	Mandibular hypoplasia-deafness-progeroid syndrome	Mandibular hypoplasia-deafness-progeroid syndrome
Orphanet:363245	Orphanet:363649	\N	"" []	Orphanet:363649	"" []	220407	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Mandibular hypoplasia-deafness-progeroid syndrome
Orphanet:79389	Orphanet:363649	\N	"" []	Orphanet:363649	"" []	220408	\N	\N	EFO	1	EFO	Premature aging	Mandibular hypoplasia-deafness-progeroid syndrome
Orphanet:90642	Orphanet:363649	\N	"" []	Orphanet:363649	"" []	220409	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Mandibular hypoplasia-deafness-progeroid syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:363649	"" []	576094	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Mandibular hypoplasia-deafness-progeroid syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:363649	"" []	576095	\N	\N	EFO	2	EFO	Rare genetic skin disease	Mandibular hypoplasia-deafness-progeroid syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:363649	"" []	576096	\N	\N	EFO	2	EFO	Rare genetic deafness	Mandibular hypoplasia-deafness-progeroid syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363649	"" []	1159189	\N	\N	EFO	3	EFO	genetic disorder	Mandibular hypoplasia-deafness-progeroid syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363649	"" []	1159190	\N	\N	EFO	3	EFO	genetic disorder	Mandibular hypoplasia-deafness-progeroid syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:363649	"" []	1159191	\N	\N	EFO	3	EFO	skin disease	Mandibular hypoplasia-deafness-progeroid syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363649	"" []	1159192	\N	\N	EFO	3	EFO	genetic disorder	Mandibular hypoplasia-deafness-progeroid syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:363649	"" []	1159193	\N	\N	EFO	3	EFO	auditory system disease	Mandibular hypoplasia-deafness-progeroid syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363649	"" []	2042517	\N	\N	EFO	4	EFO	disease	Mandibular hypoplasia-deafness-progeroid syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363649	"" []	2042518	\N	\N	EFO	4	EFO	disease	Mandibular hypoplasia-deafness-progeroid syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:363649	"" []	2042519	\N	\N	EFO	4	EFO	sensory system disease	Mandibular hypoplasia-deafness-progeroid syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363649	"" []	5416220	\N	\N	EFO	7	EFO	disposition	Mandibular hypoplasia-deafness-progeroid syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363649	"" []	3192784	\N	\N	EFO	5	EFO	nervous system disease	Mandibular hypoplasia-deafness-progeroid syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363649	"" []	5877464	\N	\N	EFO	8	EFO	material property	Mandibular hypoplasia-deafness-progeroid syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363649	"" []	4399205	\N	\N	EFO	6	EFO	disease	Mandibular hypoplasia-deafness-progeroid syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363649	"" []	6470695	\N	\N	EFO	9	EFO	experimental factor	Mandibular hypoplasia-deafness-progeroid syndrome
Orphanet:363654	\N	\N	"" []	Orphanet:363654	"" []	77001	\N	\N	EFO	0	EFO	X-linked parkinsonism-spasticity syndrome	X-linked parkinsonism-spasticity syndrome
Orphanet:307055	Orphanet:363654	\N	"" []	Orphanet:363654	"" []	220410	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	X-linked parkinsonism-spasticity syndrome
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:363654	"" []	576097	\N	\N	EFO	2	EFO	neurodegenerative disease	X-linked parkinsonism-spasticity syndrome
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:363654	"" []	576098	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	X-linked parkinsonism-spasticity syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363654	"" []	1159194	\N	\N	EFO	3	EFO	nervous system disease	X-linked parkinsonism-spasticity syndrome
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:363654	"" []	1159195	\N	\N	EFO	3	EFO	Rare genetic movement disorder	X-linked parkinsonism-spasticity syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363654	"" []	4399207	\N	\N	EFO	6	EFO	disease	X-linked parkinsonism-spasticity syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:363654	"" []	2042521	\N	\N	EFO	4	EFO	movement disorder	X-linked parkinsonism-spasticity syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:363654	"" []	2042522	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked parkinsonism-spasticity syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363654	"" []	5060073	\N	\N	EFO	7	EFO	disposition	X-linked parkinsonism-spasticity syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363654	"" []	3192786	\N	\N	EFO	5	EFO	nervous system disease	X-linked parkinsonism-spasticity syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363654	"" []	3192787	\N	\N	EFO	5	EFO	genetic disorder	X-linked parkinsonism-spasticity syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363654	"" []	5877465	\N	\N	EFO	8	EFO	material property	X-linked parkinsonism-spasticity syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363654	"" []	4399208	\N	\N	EFO	6	EFO	disease	X-linked parkinsonism-spasticity syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363654	"" []	6470696	\N	\N	EFO	9	EFO	experimental factor	X-linked parkinsonism-spasticity syndrome
Orphanet:363659	\N	\N	"" []	Orphanet:363659	"" []	77002	\N	\N	EFO	0	EFO	20q11.2 microduplication syndrome	20q11.2 microduplication syndrome
Orphanet:102283	Orphanet:363659	\N	"" []	Orphanet:363659	"" []	220411	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	20q11.2 microduplication syndrome
Orphanet:183763	Orphanet:363659	\N	"" []	Orphanet:363659	"" []	220412	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	20q11.2 microduplication syndrome
Orphanet:262995	Orphanet:363659	\N	"" []	Orphanet:363659	"" []	220413	\N	\N	EFO	1	EFO	Partial trisomy of the long arm of chromosome 20	20q11.2 microduplication syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:363659	"" []	576099	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	20q11.2 microduplication syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:363659	"" []	576100	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	20q11.2 microduplication syndrome
Orphanet:262692	Orphanet:262995	\N	"" []	Orphanet:363659	"" []	576101	\N	\N	EFO	2	EFO	Partial trisomy of chromosome 20	20q11.2 microduplication syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:363659	"" []	1159196	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	20q11.2 microduplication syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:363659	"" []	1159197	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	20q11.2 microduplication syndrome
Orphanet:98132	Orphanet:262692	\N	"" []	Orphanet:363659	"" []	1159198	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	20q11.2 microduplication syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363659	"" []	2042523	\N	\N	EFO	4	EFO	genetic disorder	20q11.2 microduplication syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363659	"" []	2042524	\N	\N	EFO	4	EFO	genetic disorder	20q11.2 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:363659	"" []	2042525	\N	\N	EFO	4	EFO	Autosomal trisomy	20q11.2 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363659	"" []	6151808	\N	\N	EFO	8	EFO	disease	20q11.2 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:363659	"" []	3192789	\N	\N	EFO	5	EFO	Autosomal anomaly	20q11.2 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363659	"" []	6410205	\N	\N	EFO	9	EFO	disposition	20q11.2 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:363659	"" []	4399210	\N	\N	EFO	6	EFO	Chromosomal anomaly	20q11.2 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363659	"" []	6808037	\N	\N	EFO	10	EFO	material property	20q11.2 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363659	"" []	5416223	\N	\N	EFO	7	EFO	genetic disorder	20q11.2 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363659	"" []	7048736	\N	\N	EFO	11	EFO	experimental factor	20q11.2 microduplication syndrome
Orphanet:363665	\N	\N	"" []	Orphanet:363665	"" []	77003	\N	\N	EFO	0	EFO	Acroosteolysis-keloid-like lesions-premature aging syndrome	Acroosteolysis-keloid-like lesions-premature aging syndrome
Orphanet:363245	Orphanet:363665	\N	"" []	Orphanet:363665	"" []	220414	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Acroosteolysis-keloid-like lesions-premature aging syndrome
Orphanet:79389	Orphanet:363665	\N	"" []	Orphanet:363665	"" []	220415	\N	\N	EFO	1	EFO	Premature aging	Acroosteolysis-keloid-like lesions-premature aging syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:363665	"" []	576102	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Acroosteolysis-keloid-like lesions-premature aging syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:363665	"" []	576103	\N	\N	EFO	2	EFO	Rare genetic skin disease	Acroosteolysis-keloid-like lesions-premature aging syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363665	"" []	1159199	\N	\N	EFO	3	EFO	genetic disorder	Acroosteolysis-keloid-like lesions-premature aging syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363665	"" []	1159200	\N	\N	EFO	3	EFO	genetic disorder	Acroosteolysis-keloid-like lesions-premature aging syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:363665	"" []	1159201	\N	\N	EFO	3	EFO	skin disease	Acroosteolysis-keloid-like lesions-premature aging syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363665	"" []	2042526	\N	\N	EFO	4	EFO	disease	Acroosteolysis-keloid-like lesions-premature aging syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363665	"" []	2042527	\N	\N	EFO	4	EFO	disease	Acroosteolysis-keloid-like lesions-premature aging syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363665	"" []	3192790	\N	\N	EFO	5	EFO	disposition	Acroosteolysis-keloid-like lesions-premature aging syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363665	"" []	4399211	\N	\N	EFO	6	EFO	material property	Acroosteolysis-keloid-like lesions-premature aging syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363665	"" []	5416224	\N	\N	EFO	7	EFO	experimental factor	Acroosteolysis-keloid-like lesions-premature aging syndrome
Orphanet:36367	\N	\N	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	Orphanet:36367	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	77004	\N	\N	EFO	0	EFO	Distal monosomy 1q	Distal monosomy 1q
Orphanet:262001	Orphanet:36367	\N	"" []	Orphanet:36367	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	220416	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 1	Distal monosomy 1q
Orphanet:261766	Orphanet:262001	\N	"" []	Orphanet:36367	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	576104	\N	\N	EFO	2	EFO	Partial deletion of chromosome 1	Distal monosomy 1q
Orphanet:98142	Orphanet:261766	\N	"" []	Orphanet:36367	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	1159202	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 1q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:36367	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	2042528	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 1q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:36367	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	3192791	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 1q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:36367	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	4399212	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 1q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:36367	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	5416225	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 1q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:36367	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	6151809	\N	\N	EFO	8	EFO	disease	Distal monosomy 1q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:36367	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	6633810	\N	\N	EFO	9	EFO	disposition	Distal monosomy 1q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:36367	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	6926134	\N	\N	EFO	10	EFO	material property	Distal monosomy 1q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:36367	"1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." []	7099286	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 1q
Orphanet:363677	\N	\N	"" []	Orphanet:363677	"" []	77005	\N	\N	EFO	0	EFO	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Orphanet:206662	Orphanet:363677	\N	"" []	Orphanet:363677	"" []	220417	\N	\N	EFO	1	EFO	Inclusion myopathy	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Orphanet:98689	Orphanet:363677	\N	"" []	Orphanet:363677	"" []	220418	\N	\N	EFO	1	EFO	Myopathy with eye involvement	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Orphanet:206656	Orphanet:206662	\N	"" []	Orphanet:363677	"" []	576105	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Orphanet:183616	Orphanet:98689	\N	"" []	Orphanet:363677	"" []	576106	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:363677	"" []	1159203	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:363677	"" []	1159204	\N	\N	EFO	3	EFO	Rare genetic eye disease	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:363677	"" []	2042529	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363677	"" []	2042530	\N	\N	EFO	4	EFO	genetic disorder	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363677	"" []	2042531	\N	\N	EFO	4	EFO	eye disease	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:363677	"" []	3192792	\N	\N	EFO	5	EFO	muscular disease	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:363677	"" []	3192793	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363677	"" []	5416227	\N	\N	EFO	7	EFO	disease	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363677	"" []	3192795	\N	\N	EFO	5	EFO	disease	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:363677	"" []	4399213	\N	\N	EFO	6	EFO	skeletal system disease	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363677	"" []	4399214	\N	\N	EFO	6	EFO	genetic disorder	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363677	"" []	5877466	\N	\N	EFO	8	EFO	disposition	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363677	"" []	5416226	\N	\N	EFO	7	EFO	disease	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363677	"" []	6470697	\N	\N	EFO	9	EFO	material property	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363677	"" []	6848667	\N	\N	EFO	10	EFO	experimental factor	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Orphanet:363680	\N	\N	"" []	Orphanet:363680	"" []	77006	\N	\N	EFO	0	EFO	2p13.2 microdeletion syndrome	2p13.2 microdeletion syndrome
Orphanet:102283	Orphanet:363680	\N	"" []	Orphanet:363680	"" []	220419	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	2p13.2 microdeletion syndrome
Orphanet:183763	Orphanet:363680	\N	"" []	Orphanet:363680	"" []	220420	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	2p13.2 microdeletion syndrome
Orphanet:261866	Orphanet:363680	\N	"" []	Orphanet:363680	"" []	220421	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 2	2p13.2 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:363680	"" []	576107	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	2p13.2 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:363680	"" []	576108	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	2p13.2 microdeletion syndrome
Orphanet:261771	Orphanet:261866	\N	"" []	Orphanet:363680	"" []	576109	\N	\N	EFO	2	EFO	Partial deletion of chromosome 2	2p13.2 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:363680	"" []	1159205	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	2p13.2 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:363680	"" []	1159206	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	2p13.2 microdeletion syndrome
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:363680	"" []	1159207	\N	\N	EFO	3	EFO	Partial autosomal monosomy	2p13.2 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363680	"" []	2042532	\N	\N	EFO	4	EFO	genetic disorder	2p13.2 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363680	"" []	2042533	\N	\N	EFO	4	EFO	genetic disorder	2p13.2 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:363680	"" []	2042534	\N	\N	EFO	4	EFO	Autosomal monosomy	2p13.2 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363680	"" []	6151812	\N	\N	EFO	8	EFO	disease	2p13.2 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:363680	"" []	3192797	\N	\N	EFO	5	EFO	Autosomal anomaly	2p13.2 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363680	"" []	6410206	\N	\N	EFO	9	EFO	disposition	2p13.2 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:363680	"" []	4399217	\N	\N	EFO	6	EFO	Chromosomal anomaly	2p13.2 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363680	"" []	6808038	\N	\N	EFO	10	EFO	material property	2p13.2 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363680	"" []	5416230	\N	\N	EFO	7	EFO	genetic disorder	2p13.2 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363680	"" []	7048737	\N	\N	EFO	11	EFO	experimental factor	2p13.2 microdeletion syndrome
Orphanet:363686	\N	\N	"" []	Orphanet:363686	"" []	77007	\N	\N	EFO	0	EFO	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Orphanet:102283	Orphanet:363686	\N	"" []	Orphanet:363686	"" []	220422	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Orphanet:183763	Orphanet:363686	\N	"" []	Orphanet:363686	"" []	220423	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:363686	"" []	576110	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:363686	"" []	576111	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:363686	"" []	1159208	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:363686	"" []	1159209	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363686	"" []	2042535	\N	\N	EFO	4	EFO	genetic disorder	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363686	"" []	2042536	\N	\N	EFO	4	EFO	genetic disorder	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363686	"" []	3192798	\N	\N	EFO	5	EFO	disease	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363686	"" []	4399218	\N	\N	EFO	6	EFO	disposition	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363686	"" []	5416231	\N	\N	EFO	7	EFO	material property	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363686	"" []	6151813	\N	\N	EFO	8	EFO	experimental factor	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Orphanet:363694	\N	\N	"" []	Orphanet:363694	"" []	77008	\N	\N	EFO	0	EFO	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Orphanet:183592	Orphanet:363694	\N	"" []	Orphanet:363694	"" []	220424	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Orphanet:35696	Orphanet:363694	\N	"" []	Orphanet:363694	"" []	220425	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:363694	"" []	576112	\N	\N	EFO	2	EFO	Rare genetic renal disease	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:363694	"" []	576113	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363694	"" []	1159210	\N	\N	EFO	3	EFO	genetic disorder	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:363694	"" []	1159211	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363694	"" []	6151814	\N	\N	EFO	8	EFO	disease	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:363694	"" []	2042538	\N	\N	EFO	4	EFO	Mitochondrial disease	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363694	"" []	6378942	\N	\N	EFO	9	EFO	disposition	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:363694	"" []	3192800	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:363694	"" []	3192801	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363694	"" []	6778769	\N	\N	EFO	10	EFO	material property	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:363694	"" []	4399220	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:363694	"" []	4399221	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363694	"" []	7029966	\N	\N	EFO	11	EFO	experimental factor	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363694	"" []	5416233	\N	\N	EFO	7	EFO	genetic disorder	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363694	"" []	5416234	\N	\N	EFO	7	EFO	genetic disorder	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:363694	"" []	5416235	\N	\N	EFO	7	EFO	metabolic disease	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363694	"" []	6151815	\N	\N	EFO	8	EFO	disease	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Orphanet:363700	\N	\N	"" []	Orphanet:363700	"" []	77009	\N	\N	EFO	0	EFO	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:636	Orphanet:363700	\N	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	Orphanet:363700	"" []	220426	\N	\N	EFO	1	EFO	Neurofibromatosis type 1	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:140162	Orphanet:636	\N	"" []	Orphanet:363700	"" []	576114	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:156629	Orphanet:636	\N	"" []	Orphanet:363700	"" []	576115	\N	\N	EFO	2	EFO	Genetic hypertension	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:166466	Orphanet:636	\N	"" []	Orphanet:363700	"" []	576116	\N	\N	EFO	2	EFO	Neurocutaneous syndrome with epilepsy	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:183466	Orphanet:636	\N	"" []	Orphanet:363700	"" []	576117	\N	\N	EFO	2	EFO	Genetic hyperpigmentation of the skin	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:98196	Orphanet:636	\N	"" []	Orphanet:363700	"" []	576118	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:98701	Orphanet:636	\N	"" []	Orphanet:363700	"" []	576119	\N	\N	EFO	2	EFO	Phakomatosis with eye involvement	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363700	"" []	1159212	\N	\N	EFO	3	EFO	genetic disorder	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:363700	"" []	1159213	\N	\N	EFO	3	EFO	Rare genetic renal disease	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:183512	Orphanet:166466	\N	"" []	Orphanet:363700	"" []	1159214	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:363700	"" []	1159215	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:363700	"" []	1159216	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:98696	Orphanet:98701	\N	"" []	Orphanet:363700	"" []	1159217	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363700	"" []	4399223	\N	\N	EFO	6	EFO	disease	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363700	"" []	2042540	\N	\N	EFO	4	EFO	genetic disorder	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:363700	"" []	2042541	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:363700	"" []	2042542	\N	\N	EFO	4	EFO	Rare genetic skin disease	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363700	"" []	2042543	\N	\N	EFO	4	EFO	genetic disorder	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:363700	"" []	2042544	\N	\N	EFO	4	EFO	Rare genetic eye disease	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363700	"" []	5060074	\N	\N	EFO	7	EFO	disposition	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363700	"" []	3192804	\N	\N	EFO	5	EFO	genetic disorder	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363700	"" []	3192805	\N	\N	EFO	5	EFO	genetic disorder	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:363700	"" []	3192806	\N	\N	EFO	5	EFO	skin disease	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363700	"" []	3192807	\N	\N	EFO	5	EFO	genetic disorder	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363700	"" []	3192808	\N	\N	EFO	5	EFO	eye disease	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363700	"" []	5877467	\N	\N	EFO	8	EFO	material property	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363700	"" []	4399224	\N	\N	EFO	6	EFO	disease	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363700	"" []	4399225	\N	\N	EFO	6	EFO	disease	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363700	"" []	6470698	\N	\N	EFO	9	EFO	experimental factor	Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Orphanet:363705	\N	\N	"" []	Orphanet:363705	"" []	77010	\N	\N	EFO	0	EFO	Craniofaciofrontodigital syndrome	Craniofaciofrontodigital syndrome
Orphanet:102283	Orphanet:363705	\N	"" []	Orphanet:363705	"" []	220427	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Craniofaciofrontodigital syndrome
Orphanet:209	Orphanet:363705	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:363705	"" []	220428	\N	\N	EFO	1	EFO	Cutis laxa	Craniofaciofrontodigital syndrome
Orphanet:93453	Orphanet:363705	\N	"" []	Orphanet:363705	"" []	220429	\N	\N	EFO	1	EFO	Dysostosis with predominant craniofacial involvement	Craniofaciofrontodigital syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:363705	"" []	576120	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Craniofaciofrontodigital syndrome
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:363705	"" []	576121	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Craniofaciofrontodigital syndrome
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:363705	"" []	576122	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Craniofaciofrontodigital syndrome
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:363705	"" []	576123	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Craniofaciofrontodigital syndrome
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:363705	"" []	576124	\N	\N	EFO	2	EFO	Congenital entropion	Craniofaciofrontodigital syndrome
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:363705	"" []	576125	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Craniofaciofrontodigital syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:363705	"" []	1159218	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Craniofaciofrontodigital syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:363705	"" []	1159219	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Craniofaciofrontodigital syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:363705	"" []	1159220	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Craniofaciofrontodigital syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:363705	"" []	1159221	\N	\N	EFO	3	EFO	Genetic dermis disorder	Craniofaciofrontodigital syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:363705	"" []	1159222	\N	\N	EFO	3	EFO	Eyelids malposition disorder	Craniofaciofrontodigital syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:363705	"" []	1159223	\N	\N	EFO	3	EFO	Rare genetic bone disease	Craniofaciofrontodigital syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:363705	"" []	1159224	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Craniofaciofrontodigital syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363705	"" []	3192814	\N	\N	EFO	5	EFO	genetic disorder	Craniofaciofrontodigital syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:363705	"" []	2042546	\N	\N	EFO	4	EFO	Rare genetic skin disease	Craniofaciofrontodigital syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:363705	"" []	2042547	\N	\N	EFO	4	EFO	Rare palpebral disease	Craniofaciofrontodigital syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363705	"" []	2042548	\N	\N	EFO	4	EFO	genetic disorder	Craniofaciofrontodigital syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:363705	"" []	2042549	\N	\N	EFO	4	EFO	bone disease	Craniofaciofrontodigital syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:363705	"" []	2042550	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniofaciofrontodigital syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363705	"" []	6151817	\N	\N	EFO	8	EFO	disease	Craniofaciofrontodigital syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363705	"" []	3192810	\N	\N	EFO	5	EFO	genetic disorder	Craniofaciofrontodigital syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:363705	"" []	3192811	\N	\N	EFO	5	EFO	skin disease	Craniofaciofrontodigital syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:363705	"" []	3192812	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Craniofaciofrontodigital syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:363705	"" []	3192813	\N	\N	EFO	5	EFO	skeletal system disease	Craniofaciofrontodigital syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363705	"" []	6410207	\N	\N	EFO	9	EFO	disposition	Craniofaciofrontodigital syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363705	"" []	4399227	\N	\N	EFO	6	EFO	disease	Craniofaciofrontodigital syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:363705	"" []	4399228	\N	\N	EFO	6	EFO	Rare genetic eye disease	Craniofaciofrontodigital syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363705	"" []	4399229	\N	\N	EFO	6	EFO	disease	Craniofaciofrontodigital syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363705	"" []	6808039	\N	\N	EFO	10	EFO	material property	Craniofaciofrontodigital syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363705	"" []	5416238	\N	\N	EFO	7	EFO	genetic disorder	Craniofaciofrontodigital syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363705	"" []	5416239	\N	\N	EFO	7	EFO	eye disease	Craniofaciofrontodigital syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363705	"" []	7048738	\N	\N	EFO	11	EFO	experimental factor	Craniofaciofrontodigital syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363705	"" []	6151818	\N	\N	EFO	8	EFO	disease	Craniofaciofrontodigital syndrome
Orphanet:363710	\N	\N	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	77011	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 37	Spinocerebellar ataxia type 37
Orphanet:94145	Orphanet:363710	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	220430	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 37
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	576126	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 37
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	1159225	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 37
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	1159226	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 37
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	1159227	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 37
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	2042551	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 37
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	2042552	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 37
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	2042553	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 37
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	6151821	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 37
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	3192816	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 37
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	3192817	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 37
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	6410208	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 37
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	4399231	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 37
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	4399232	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 37
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	4399233	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 37
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	6808040	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 37
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	5416241	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 37
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	5416242	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 37
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	5416243	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 37
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	5416244	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 37
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	5416245	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 37
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	5416246	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 37
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	5416247	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 37
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	7048739	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 37
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	6151820	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 37
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	6151822	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 37
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	6151824	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 37
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	7190245	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 37
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363710	"Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." []	6633812	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 37
Orphanet:363717	\N	\N	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	77012	\N	\N	EFO	0	EFO	Alexander disease type I	Alexander disease type I
Orphanet:58	Orphanet:363717	\N	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	220431	\N	\N	EFO	1	EFO	Alexander disease	Alexander disease type I
Orphanet:183500	Orphanet:58	\N	"" []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	576127	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Alexander disease type I
Orphanet:68356	Orphanet:58	\N	"" []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	576128	\N	\N	EFO	2	EFO	Leukodystrophy	Alexander disease type I
Orphanet:98691	Orphanet:58	\N	"" []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	576129	\N	\N	EFO	2	EFO	Abnormal eye movements	Alexander disease type I
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	1159228	\N	\N	EFO	3	EFO	neurodegenerative disease	Alexander disease type I
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	1159229	\N	\N	EFO	3	EFO	brain disease	Alexander disease type I
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	1159230	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alexander disease type I
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	1159231	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alexander disease type I
Orphanet:183616	Orphanet:98691	\N	"" []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	1159232	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Alexander disease type I
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	2042554	\N	\N	EFO	4	EFO	nervous system disease	Alexander disease type I
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	2042555	\N	\N	EFO	4	EFO	nervous system disease	Alexander disease type I
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	2042556	\N	\N	EFO	4	EFO	genetic disorder	Alexander disease type I
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	2042557	\N	\N	EFO	4	EFO	Rare genetic eye disease	Alexander disease type I
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	3192818	\N	\N	EFO	5	EFO	disease	Alexander disease type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	4399235	\N	\N	EFO	6	EFO	disease	Alexander disease type I
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	3192820	\N	\N	EFO	5	EFO	genetic disorder	Alexander disease type I
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	3192821	\N	\N	EFO	5	EFO	eye disease	Alexander disease type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	5182855	\N	\N	EFO	7	EFO	disposition	Alexander disease type I
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	4399236	\N	\N	EFO	6	EFO	disease	Alexander disease type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	5998226	\N	\N	EFO	8	EFO	material property	Alexander disease type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363717	"Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." []	6551468	\N	\N	EFO	9	EFO	experimental factor	Alexander disease type I
Orphanet:363722	\N	\N	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	77013	\N	\N	EFO	0	EFO	Alexander disease type II	Alexander disease type II
Orphanet:58	Orphanet:363722	\N	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	220432	\N	\N	EFO	1	EFO	Alexander disease	Alexander disease type II
Orphanet:183500	Orphanet:58	\N	"" []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	576130	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Alexander disease type II
Orphanet:68356	Orphanet:58	\N	"" []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	576131	\N	\N	EFO	2	EFO	Leukodystrophy	Alexander disease type II
Orphanet:98691	Orphanet:58	\N	"" []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	576132	\N	\N	EFO	2	EFO	Abnormal eye movements	Alexander disease type II
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	1159233	\N	\N	EFO	3	EFO	neurodegenerative disease	Alexander disease type II
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	1159234	\N	\N	EFO	3	EFO	brain disease	Alexander disease type II
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	1159235	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alexander disease type II
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	1159236	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alexander disease type II
Orphanet:183616	Orphanet:98691	\N	"" []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	1159237	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Alexander disease type II
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	2042558	\N	\N	EFO	4	EFO	nervous system disease	Alexander disease type II
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	2042559	\N	\N	EFO	4	EFO	nervous system disease	Alexander disease type II
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	2042560	\N	\N	EFO	4	EFO	genetic disorder	Alexander disease type II
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	2042561	\N	\N	EFO	4	EFO	Rare genetic eye disease	Alexander disease type II
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	3192822	\N	\N	EFO	5	EFO	disease	Alexander disease type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	4399238	\N	\N	EFO	6	EFO	disease	Alexander disease type II
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	3192824	\N	\N	EFO	5	EFO	genetic disorder	Alexander disease type II
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	3192825	\N	\N	EFO	5	EFO	eye disease	Alexander disease type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	5182856	\N	\N	EFO	7	EFO	disposition	Alexander disease type II
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	4399239	\N	\N	EFO	6	EFO	disease	Alexander disease type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	5998227	\N	\N	EFO	8	EFO	material property	Alexander disease type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363722	"Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." []	6551469	\N	\N	EFO	9	EFO	experimental factor	Alexander disease type II
Orphanet:363727	\N	\N	"" []	Orphanet:363727	"" []	77014	\N	\N	EFO	0	EFO	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Orphanet:275729	Orphanet:363727	\N	"" []	Orphanet:363727	"" []	220433	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Orphanet:85	Orphanet:363727	\N	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	Orphanet:363727	"" []	220434	\N	\N	EFO	1	EFO	Congenital dyserythropoietic anemia	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:363727	"" []	576133	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Orphanet:293830	Orphanet:85	\N	"" []	Orphanet:363727	"" []	576134	\N	\N	EFO	2	EFO	Constitutional dyserythropoietic anemia	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:363727	"" []	1159238	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Orphanet:183651	Orphanet:293830	\N	"" []	Orphanet:363727	"" []	1159239	\N	\N	EFO	3	EFO	Rare constitutional anemia	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:363727	"" []	2042562	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:363727	"" []	2042563	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363727	"" []	3192826	\N	\N	EFO	5	EFO	genetic disorder	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:363727	"" []	3192827	\N	\N	EFO	5	EFO	hematological system disease	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363727	"" []	4399240	\N	\N	EFO	6	EFO	disease	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363727	"" []	4399241	\N	\N	EFO	6	EFO	disease	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363727	"" []	5416250	\N	\N	EFO	7	EFO	disposition	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363727	"" []	6151827	\N	\N	EFO	8	EFO	material property	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363727	"" []	6633813	\N	\N	EFO	9	EFO	experimental factor	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Orphanet:363741	\N	\N	"" []	Orphanet:363741	"" []	77015	\N	\N	EFO	0	EFO	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:102283	Orphanet:363741	\N	"" []	Orphanet:363741	"" []	220435	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:202948	Orphanet:363741	\N	"" []	Orphanet:363741	"" []	220436	\N	\N	EFO	1	EFO	Syndromic microphthalmia	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:240371	Orphanet:363741	\N	"" []	Orphanet:363741	"" []	220437	\N	\N	EFO	1	EFO	Syndromic obesity	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:363741	"" []	576135	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:363741	"" []	576136	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:363741	"" []	576137	\N	\N	EFO	2	EFO	Genetic obesity	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:363741	"" []	1159240	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:363741	"" []	1159241	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:363741	"" []	1159242	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:363741	"" []	1159243	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363741	"" []	4399245	\N	\N	EFO	6	EFO	genetic disorder	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:363741	"" []	2042565	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363741	"" []	2042566	\N	\N	EFO	4	EFO	genetic disorder	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:363741	"" []	2042567	\N	\N	EFO	4	EFO	endocrine system disease	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:363741	"" []	2042568	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363741	"" []	5060075	\N	\N	EFO	7	EFO	disease	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:363741	"" []	3192829	\N	\N	EFO	5	EFO	Rare genetic eye disease	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:363741	"" []	3192830	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363741	"" []	3192831	\N	\N	EFO	5	EFO	disease	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363741	"" []	5877468	\N	\N	EFO	8	EFO	disposition	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363741	"" []	4399243	\N	\N	EFO	6	EFO	genetic disorder	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363741	"" []	4399244	\N	\N	EFO	6	EFO	eye disease	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363741	"" []	6470700	\N	\N	EFO	9	EFO	material property	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363741	"" []	5416252	\N	\N	EFO	7	EFO	disease	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363741	"" []	6848669	\N	\N	EFO	10	EFO	experimental factor	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Orphanet:36382	\N	\N	"" []	Orphanet:36382	"" []	77016	\N	\N	EFO	0	EFO	Familial cervical artery dissections	Familial cervical artery dissections
Orphanet:183503	Orphanet:36382	\N	"" []	Orphanet:36382	"" []	220438	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Familial cervical artery dissections
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:36382	"" []	576138	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Familial cervical artery dissections
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:36382	"" []	1159244	\N	\N	EFO	3	EFO	genetic disorder	Familial cervical artery dissections
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:36382	"" []	2042569	\N	\N	EFO	4	EFO	disease	Familial cervical artery dissections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:36382	"" []	3192833	\N	\N	EFO	5	EFO	disposition	Familial cervical artery dissections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:36382	"" []	4399246	\N	\N	EFO	6	EFO	material property	Familial cervical artery dissections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:36382	"" []	5416253	\N	\N	EFO	7	EFO	experimental factor	Familial cervical artery dissections
Orphanet:36383	\N	\N	"" []	Orphanet:36383	"" []	77017	\N	\N	EFO	0	EFO	Familial vascular leukoencephalopathy	Familial vascular leukoencephalopathy
Orphanet:183503	Orphanet:36383	\N	"" []	Orphanet:36383	"" []	220439	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Familial vascular leukoencephalopathy
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:36383	"" []	576139	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Familial vascular leukoencephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:36383	"" []	1159245	\N	\N	EFO	3	EFO	genetic disorder	Familial vascular leukoencephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:36383	"" []	2042570	\N	\N	EFO	4	EFO	disease	Familial vascular leukoencephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:36383	"" []	3192834	\N	\N	EFO	5	EFO	disposition	Familial vascular leukoencephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:36383	"" []	4399247	\N	\N	EFO	6	EFO	material property	Familial vascular leukoencephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:36383	"" []	5416254	\N	\N	EFO	7	EFO	experimental factor	Familial vascular leukoencephalopathy
Orphanet:36386	\N	\N	"" []	Orphanet:36386	"" []	77018	\N	\N	EFO	0	EFO	Hereditary sensory and autonomic neuropathy type 1	Hereditary sensory and autonomic neuropathy type 1
Orphanet:140474	Orphanet:36386	\N	"" []	Orphanet:36386	"" []	220440	\N	\N	EFO	1	EFO	Autosomal dominant hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 1
Orphanet:352309	Orphanet:36386	\N	"" []	Orphanet:36386	"" []	220441	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement	Hereditary sensory and autonomic neuropathy type 1
Orphanet:140471	Orphanet:140474	\N	"" []	Orphanet:36386	"" []	576140	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 1
Orphanet:352301	Orphanet:352309	\N	"" []	Orphanet:36386	"" []	576141	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Hereditary sensory and autonomic neuropathy type 1
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:36386	"" []	1159246	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary sensory and autonomic neuropathy type 1
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:36386	"" []	1159247	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Hereditary sensory and autonomic neuropathy type 1
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:36386	"" []	2042571	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary sensory and autonomic neuropathy type 1
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:36386	"" []	2042572	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hereditary sensory and autonomic neuropathy type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:36386	"" []	3192835	\N	\N	EFO	5	EFO	genetic disorder	Hereditary sensory and autonomic neuropathy type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:36386	"" []	3192836	\N	\N	EFO	5	EFO	genetic disorder	Hereditary sensory and autonomic neuropathy type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:36386	"" []	3192837	\N	\N	EFO	5	EFO	metabolic disease	Hereditary sensory and autonomic neuropathy type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:36386	"" []	4399248	\N	\N	EFO	6	EFO	disease	Hereditary sensory and autonomic neuropathy type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:36386	"" []	4399249	\N	\N	EFO	6	EFO	disease	Hereditary sensory and autonomic neuropathy type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:36386	"" []	5416255	\N	\N	EFO	7	EFO	disposition	Hereditary sensory and autonomic neuropathy type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:36386	"" []	6151829	\N	\N	EFO	8	EFO	material property	Hereditary sensory and autonomic neuropathy type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:36386	"" []	6633814	\N	\N	EFO	9	EFO	experimental factor	Hereditary sensory and autonomic neuropathy type 1
Orphanet:36387	\N	\N	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	77019	\N	\N	EFO	0	EFO	Generalized epilepsy with febrile seizures-plus	Generalized epilepsy with febrile seizures-plus
Orphanet:309	Orphanet:36387	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	220442	\N	\N	EFO	1	EFO	Familial partial epilepsy	Generalized epilepsy with febrile seizures-plus
Orphanet:98258	Orphanet:36387	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	220443	\N	\N	EFO	1	EFO	Infantile epilepsy syndrome	Generalized epilepsy with febrile seizures-plus
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	576142	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Generalized epilepsy with febrile seizures-plus
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	576143	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Generalized epilepsy with febrile seizures-plus
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	576144	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Generalized epilepsy with febrile seizures-plus
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	576145	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Generalized epilepsy with febrile seizures-plus
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	576146	\N	\N	EFO	2	EFO	Epilepsy syndrome	Generalized epilepsy with febrile seizures-plus
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	1159248	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Generalized epilepsy with febrile seizures-plus
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	1159249	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Generalized epilepsy with febrile seizures-plus
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	1159250	\N	\N	EFO	3	EFO	Epilepsy syndrome	Generalized epilepsy with febrile seizures-plus
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	1159251	\N	\N	EFO	3	EFO	Epilepsy syndrome	Generalized epilepsy with febrile seizures-plus
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	2042575	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Generalized epilepsy with febrile seizures-plus
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	3000339	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Generalized epilepsy with febrile seizures-plus
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	2042574	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Generalized epilepsy with febrile seizures-plus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	4134004	\N	\N	EFO	6	EFO	genetic disorder	Generalized epilepsy with febrile seizures-plus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	5182858	\N	\N	EFO	7	EFO	disease	Generalized epilepsy with febrile seizures-plus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	5998229	\N	\N	EFO	8	EFO	disposition	Generalized epilepsy with febrile seizures-plus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	6551471	\N	\N	EFO	9	EFO	material property	Generalized epilepsy with febrile seizures-plus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:36387	"Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." []	6889447	\N	\N	EFO	10	EFO	experimental factor	Generalized epilepsy with febrile seizures-plus
Orphanet:363958	\N	\N	"" []	Orphanet:363958	"" []	77020	\N	\N	EFO	0	EFO	17q21.31 microdeletion syndrome	17q21.31 microdeletion syndrome
Orphanet:262137	Orphanet:363958	\N	"" []	Orphanet:363958	"" []	220444	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 17	17q21.31 microdeletion syndrome
Orphanet:96169	Orphanet:363958	\N	"Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." []	Orphanet:363958	"" []	220445	\N	\N	EFO	1	EFO	Koolen-De Vries syndrome	17q21.31 microdeletion syndrome
Orphanet:261831	Orphanet:262137	\N	"" []	Orphanet:363958	"" []	576147	\N	\N	EFO	2	EFO	Partial deletion of chromosome 17	17q21.31 microdeletion syndrome
Orphanet:102283	Orphanet:96169	\N	"" []	Orphanet:363958	"" []	576148	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	17q21.31 microdeletion syndrome
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:363958	"" []	1159253	\N	\N	EFO	3	EFO	Partial autosomal monosomy	17q21.31 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:363958	"" []	1159254	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	17q21.31 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:363958	"" []	2042576	\N	\N	EFO	4	EFO	Autosomal monosomy	17q21.31 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:363958	"" []	2042577	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	17q21.31 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:363958	"" []	3192839	\N	\N	EFO	5	EFO	Autosomal anomaly	17q21.31 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363958	"" []	3192840	\N	\N	EFO	5	EFO	genetic disorder	17q21.31 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:363958	"" []	4399251	\N	\N	EFO	6	EFO	Chromosomal anomaly	17q21.31 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363958	"" []	6151831	\N	\N	EFO	8	EFO	disease	17q21.31 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363958	"" []	5416257	\N	\N	EFO	7	EFO	genetic disorder	17q21.31 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363958	"" []	6470701	\N	\N	EFO	9	EFO	disposition	17q21.31 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363958	"" []	6848670	\N	\N	EFO	10	EFO	material property	17q21.31 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363958	"" []	7068498	\N	\N	EFO	11	EFO	experimental factor	17q21.31 microdeletion syndrome
Orphanet:363965	\N	\N	"" []	Orphanet:363965	"" []	77021	\N	\N	EFO	0	EFO	Koolen-De Vries syndrome due to a point mutation	Koolen-De Vries syndrome due to a point mutation
Orphanet:96169	Orphanet:363965	\N	"Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." []	Orphanet:363965	"" []	220446	\N	\N	EFO	1	EFO	Koolen-De Vries syndrome	Koolen-De Vries syndrome due to a point mutation
Orphanet:102283	Orphanet:96169	\N	"" []	Orphanet:363965	"" []	576149	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Koolen-De Vries syndrome due to a point mutation
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:363965	"" []	1159255	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Koolen-De Vries syndrome due to a point mutation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:363965	"" []	2042578	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Koolen-De Vries syndrome due to a point mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363965	"" []	3192841	\N	\N	EFO	5	EFO	genetic disorder	Koolen-De Vries syndrome due to a point mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363965	"" []	4399253	\N	\N	EFO	6	EFO	disease	Koolen-De Vries syndrome due to a point mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363965	"" []	5416259	\N	\N	EFO	7	EFO	disposition	Koolen-De Vries syndrome due to a point mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363965	"" []	6151833	\N	\N	EFO	8	EFO	material property	Koolen-De Vries syndrome due to a point mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363965	"" []	6633817	\N	\N	EFO	9	EFO	experimental factor	Koolen-De Vries syndrome due to a point mutation
Orphanet:363969	\N	\N	"" []	Orphanet:363969	"" []	77022	\N	\N	EFO	0	EFO	Autosomal recessive cerebral atrophy	Autosomal recessive cerebral atrophy
Orphanet:183500	Orphanet:363969	\N	"" []	Orphanet:363969	"" []	220447	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebral atrophy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:363969	"" []	576150	\N	\N	EFO	2	EFO	neurodegenerative disease	Autosomal recessive cerebral atrophy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:363969	"" []	576151	\N	\N	EFO	2	EFO	brain disease	Autosomal recessive cerebral atrophy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:363969	"" []	576152	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Autosomal recessive cerebral atrophy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363969	"" []	1159256	\N	\N	EFO	3	EFO	nervous system disease	Autosomal recessive cerebral atrophy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363969	"" []	1159257	\N	\N	EFO	3	EFO	nervous system disease	Autosomal recessive cerebral atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363969	"" []	1159258	\N	\N	EFO	3	EFO	genetic disorder	Autosomal recessive cerebral atrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363969	"" []	2042579	\N	\N	EFO	4	EFO	disease	Autosomal recessive cerebral atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363969	"" []	2042580	\N	\N	EFO	4	EFO	disease	Autosomal recessive cerebral atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363969	"" []	3192842	\N	\N	EFO	5	EFO	disposition	Autosomal recessive cerebral atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363969	"" []	4399254	\N	\N	EFO	6	EFO	material property	Autosomal recessive cerebral atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363969	"" []	5416260	\N	\N	EFO	7	EFO	experimental factor	Autosomal recessive cerebral atrophy
Orphanet:363972	\N	\N	"" []	Orphanet:363972	"" []	77023	\N	\N	EFO	0	EFO	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Orphanet:183422	Orphanet:363972	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:363972	"" []	220448	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Orphanet:98733	Orphanet:363972	\N	"" []	Orphanet:363972	"" []	220449	\N	\N	EFO	1	EFO	Noonan syndrome and Noonan-related syndrome	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:363972	"" []	576153	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Orphanet:183570	Orphanet:98733	\N	"" []	Orphanet:363972	"" []	576154	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Orphanet:217595	Orphanet:98733	\N	"" []	Orphanet:363972	"" []	576155	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363972	"" []	1159259	\N	\N	EFO	3	EFO	genetic disorder	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:363972	"" []	1159260	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:363972	"" []	1159261	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363972	"" []	4399256	\N	\N	EFO	6	EFO	disease	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363972	"" []	2042582	\N	\N	EFO	4	EFO	genetic disorder	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:363972	"" []	2042583	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363972	"" []	6151834	\N	\N	EFO	8	EFO	disposition	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363972	"" []	3192845	\N	\N	EFO	5	EFO	genetic disorder	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:363972	"" []	3192846	\N	\N	EFO	5	EFO	heart disease	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363972	"" []	6410209	\N	\N	EFO	9	EFO	material property	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:363972	"" []	4399257	\N	\N	EFO	6	EFO	cardiovascular disease	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363972	"" []	6808041	\N	\N	EFO	10	EFO	experimental factor	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363972	"" []	5416262	\N	\N	EFO	7	EFO	disease	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Orphanet:363981	\N	\N	"" []	Orphanet:363981	"" []	77024	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 4B3	Charcot-Marie-Tooth disease type 4B3
Orphanet:64749	Orphanet:363981	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:363981	"" []	220450	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4B3
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:363981	"" []	576156	\N	\N	EFO	2	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4B3
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:363981	"" []	576157	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 4B3
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:363981	"" []	1159262	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4B3
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:363981	"" []	1159263	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4B3
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:363981	"" []	2042584	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 4B3
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:363981	"" []	2042585	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4B3
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:363981	"" []	3192848	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 4B3
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:363981	"" []	3192847	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 4B3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363981	"" []	4134006	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 4B3
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:363981	"" []	4399258	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 4B3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363981	"" []	5182860	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4B3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363981	"" []	5416263	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4B3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363981	"" []	5998231	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 4B3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363981	"" []	6551472	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 4B3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363981	"" []	6889448	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 4B3
Orphanet:363989	\N	\N	"" []	Orphanet:363989	"" []	77025	\N	\N	EFO	0	EFO	Familial benign flecked retina	Familial benign flecked retina
Orphanet:71862	Orphanet:363989	\N	"" []	Orphanet:363989	"" []	220451	\N	\N	EFO	1	EFO	Retinal dystrophy	Familial benign flecked retina
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:363989	"" []	576158	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Familial benign flecked retina
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:363989	"" []	1159264	\N	\N	EFO	3	EFO	Rare genetic eye disease	Familial benign flecked retina
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363989	"" []	2042587	\N	\N	EFO	4	EFO	genetic disorder	Familial benign flecked retina
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:363989	"" []	2042588	\N	\N	EFO	4	EFO	eye disease	Familial benign flecked retina
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363989	"" []	3192850	\N	\N	EFO	5	EFO	disease	Familial benign flecked retina
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363989	"" []	3192851	\N	\N	EFO	5	EFO	disease	Familial benign flecked retina
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363989	"" []	4399260	\N	\N	EFO	6	EFO	disposition	Familial benign flecked retina
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363989	"" []	5416265	\N	\N	EFO	7	EFO	material property	Familial benign flecked retina
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363989	"" []	6151836	\N	\N	EFO	8	EFO	experimental factor	Familial benign flecked retina
Orphanet:363992	\N	\N	"" []	Orphanet:363992	"" []	77026	\N	\N	EFO	0	EFO	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Orphanet:139027	Orphanet:363992	\N	"" []	Orphanet:363992	"" []	220452	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Orphanet:281244	Orphanet:363992	\N	"" []	Orphanet:363992	"" []	220453	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:363992	"" []	576159	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:363992	"" []	576160	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363992	"" []	1159265	\N	\N	EFO	3	EFO	genetic disorder	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:363992	"" []	1159266	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363992	"" []	6151837	\N	\N	EFO	8	EFO	disease	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:363992	"" []	2042590	\N	\N	EFO	4	EFO	Inherited ichthyosis	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:363992	"" []	6378943	\N	\N	EFO	9	EFO	disposition	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:363992	"" []	3192853	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:363992	"" []	6778770	\N	\N	EFO	10	EFO	material property	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:363992	"" []	4399262	\N	\N	EFO	6	EFO	Rare genetic skin disease	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:363992	"" []	7029967	\N	\N	EFO	11	EFO	experimental factor	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:363992	"" []	5416267	\N	\N	EFO	7	EFO	genetic disorder	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:363992	"" []	5416268	\N	\N	EFO	7	EFO	skin disease	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:363992	"" []	6151838	\N	\N	EFO	8	EFO	disease	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Orphanet:364	\N	\N	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	77027	\N	\N	EFO	0	EFO	Glycogen storage disease due to glucose-6-phosphatase deficiency	Glycogen storage disease due to glucose-6-phosphatase deficiency
Orphanet:101940	Orphanet:364	\N	"" []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	220454	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Glycogen storage disease due to glucose-6-phosphatase deficiency
Orphanet:79201	Orphanet:364	\N	"" []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	220455	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to glucose-6-phosphatase deficiency
Orphanet:93593	Orphanet:364	\N	"" []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	220456	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Glycogen storage disease due to glucose-6-phosphatase deficiency
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	576161	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Glycogen storage disease due to glucose-6-phosphatase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	576162	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glucose-6-phosphatase deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	576163	\N	\N	EFO	2	EFO	Rare genetic renal disease	Glycogen storage disease due to glucose-6-phosphatase deficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	1159267	\N	\N	EFO	3	EFO	digestive system disease	Glycogen storage disease due to glucose-6-phosphatase deficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	1159268	\N	\N	EFO	3	EFO	genetic disorder	Glycogen storage disease due to glucose-6-phosphatase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	1159269	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to glucose-6-phosphatase deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	1159270	\N	\N	EFO	3	EFO	genetic disorder	Glycogen storage disease due to glucose-6-phosphatase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	2042591	\N	\N	EFO	4	EFO	disease	Glycogen storage disease due to glucose-6-phosphatase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	3192855	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glucose-6-phosphatase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	2042593	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glucose-6-phosphatase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	2042594	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to glucose-6-phosphatase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	4134007	\N	\N	EFO	6	EFO	disposition	Glycogen storage disease due to glucose-6-phosphatase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	3192856	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glucose-6-phosphatase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	5182861	\N	\N	EFO	7	EFO	material property	Glycogen storage disease due to glucose-6-phosphatase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	5998232	\N	\N	EFO	8	EFO	experimental factor	Glycogen storage disease due to glucose-6-phosphatase deficiency
Orphanet:364028	\N	\N	"" []	Orphanet:364028	"" []	77028	\N	\N	EFO	0	EFO	X-linked intellectual disability due to GRIA3 anomalies	X-linked intellectual disability due to GRIA3 anomalies
Orphanet:102283	Orphanet:364028	\N	"" []	Orphanet:364028	"" []	220457	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability due to GRIA3 anomalies
Orphanet:98464	Orphanet:364028	\N	"" []	Orphanet:364028	"" []	220458	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability due to GRIA3 anomalies
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:364028	"" []	576164	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability due to GRIA3 anomalies
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:364028	"" []	576165	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability due to GRIA3 anomalies
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:364028	"" []	1159271	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability due to GRIA3 anomalies
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:364028	"" []	1159272	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability due to GRIA3 anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364028	"" []	2042595	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability due to GRIA3 anomalies
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:364028	"" []	2042596	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability due to GRIA3 anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364028	"" []	4399265	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability due to GRIA3 anomalies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364028	"" []	3192858	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability due to GRIA3 anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364028	"" []	5182862	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability due to GRIA3 anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364028	"" []	5998233	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability due to GRIA3 anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364028	"" []	6551473	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability due to GRIA3 anomalies
Orphanet:364055	\N	\N	"Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." []	Orphanet:364055	"Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." []	77029	\N	\N	EFO	0	EFO	Severe early-childhood-onset retinal dystrophy	Severe early-childhood-onset retinal dystrophy
Orphanet:71862	Orphanet:364055	\N	"" []	Orphanet:364055	"Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." []	220459	\N	\N	EFO	1	EFO	Retinal dystrophy	Severe early-childhood-onset retinal dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:364055	"Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." []	576166	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Severe early-childhood-onset retinal dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:364055	"Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." []	1159273	\N	\N	EFO	3	EFO	Rare genetic eye disease	Severe early-childhood-onset retinal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364055	"Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." []	2042597	\N	\N	EFO	4	EFO	genetic disorder	Severe early-childhood-onset retinal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:364055	"Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." []	2042598	\N	\N	EFO	4	EFO	eye disease	Severe early-childhood-onset retinal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364055	"Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." []	3192859	\N	\N	EFO	5	EFO	disease	Severe early-childhood-onset retinal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364055	"Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." []	3192860	\N	\N	EFO	5	EFO	disease	Severe early-childhood-onset retinal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364055	"Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." []	4399266	\N	\N	EFO	6	EFO	disposition	Severe early-childhood-onset retinal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364055	"Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." []	5416271	\N	\N	EFO	7	EFO	material property	Severe early-childhood-onset retinal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364055	"Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." []	6151840	\N	\N	EFO	8	EFO	experimental factor	Severe early-childhood-onset retinal dystrophy
Orphanet:364063	\N	\N	"" []	Orphanet:364063	"" []	77030	\N	\N	EFO	0	EFO	Infantile epileptic-dyskinetic encephalopathy	Infantile epileptic-dyskinetic encephalopathy
Orphanet:182079	Orphanet:364063	\N	"" []	Orphanet:364063	"" []	220460	\N	\N	EFO	1	EFO	ARX-related epileptic encephalopathy	Infantile epileptic-dyskinetic encephalopathy
Orphanet:391711	Orphanet:364063	\N	"" []	Orphanet:364063	"" []	220461	\N	\N	EFO	1	EFO	Persistent combined dystonia	Infantile epileptic-dyskinetic encephalopathy
Orphanet:166472	Orphanet:182079	\N	"" []	Orphanet:364063	"" []	576167	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Infantile epileptic-dyskinetic encephalopathy
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:364063	"" []	576168	\N	\N	EFO	2	EFO	Combined dystonia	Infantile epileptic-dyskinetic encephalopathy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:364063	"" []	1159274	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Infantile epileptic-dyskinetic encephalopathy
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:364063	"" []	1159275	\N	\N	EFO	3	EFO	Rare genetic dystonia	Infantile epileptic-dyskinetic encephalopathy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:364063	"" []	2042599	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Infantile epileptic-dyskinetic encephalopathy
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:364063	"" []	2042600	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Infantile epileptic-dyskinetic encephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364063	"" []	4399269	\N	\N	EFO	6	EFO	genetic disorder	Infantile epileptic-dyskinetic encephalopathy
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:364063	"" []	3192862	\N	\N	EFO	5	EFO	movement disorder	Infantile epileptic-dyskinetic encephalopathy
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:364063	"" []	3192863	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Infantile epileptic-dyskinetic encephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364063	"" []	5182863	\N	\N	EFO	7	EFO	disease	Infantile epileptic-dyskinetic encephalopathy
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:364063	"" []	4399268	\N	\N	EFO	6	EFO	nervous system disease	Infantile epileptic-dyskinetic encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364063	"" []	5998234	\N	\N	EFO	8	EFO	disposition	Infantile epileptic-dyskinetic encephalopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364063	"" []	5416273	\N	\N	EFO	7	EFO	disease	Infantile epileptic-dyskinetic encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364063	"" []	6551474	\N	\N	EFO	9	EFO	material property	Infantile epileptic-dyskinetic encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364063	"" []	6889449	\N	\N	EFO	10	EFO	experimental factor	Infantile epileptic-dyskinetic encephalopathy
Orphanet:364198	\N	\N	"" []	Orphanet:364198	"" []	77031	\N	\N	EFO	0	EFO	Bipartite talus	Bipartite talus
Orphanet:109011	Orphanet:364198	\N	"" []	Orphanet:364198	"" []	220462	\N	\N	EFO	1	EFO	Non-syndromic limb malformation	Bipartite talus
Orphanet:404571	Orphanet:364198	\N	"" []	Orphanet:364198	"" []	220463	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Bipartite talus
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:364198	"" []	576169	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Bipartite talus
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:364198	"" []	576170	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Bipartite talus
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:364198	"" []	1159276	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bipartite talus
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:364198	"" []	1159277	\N	\N	EFO	3	EFO	Rare genetic bone disease	Bipartite talus
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:364198	"" []	1159278	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Bipartite talus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364198	"" []	3192866	\N	\N	EFO	5	EFO	genetic disorder	Bipartite talus
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364198	"" []	2042602	\N	\N	EFO	4	EFO	genetic disorder	Bipartite talus
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:364198	"" []	2042603	\N	\N	EFO	4	EFO	bone disease	Bipartite talus
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:364198	"" []	2042604	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Bipartite talus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364198	"" []	4134008	\N	\N	EFO	6	EFO	disease	Bipartite talus
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:364198	"" []	3192865	\N	\N	EFO	5	EFO	skeletal system disease	Bipartite talus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364198	"" []	5182864	\N	\N	EFO	7	EFO	disposition	Bipartite talus
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364198	"" []	4399271	\N	\N	EFO	6	EFO	disease	Bipartite talus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364198	"" []	5998235	\N	\N	EFO	8	EFO	material property	Bipartite talus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364198	"" []	6551475	\N	\N	EFO	9	EFO	experimental factor	Bipartite talus
Orphanet:364526	\N	\N	"" []	Orphanet:364526	"" []	77032	\N	\N	EFO	0	EFO	Primary bone dysplasia	Primary bone dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:364526	"" []	220464	\N	\N	EFO	1	EFO	Rare genetic bone disease	Primary bone dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:364526	"" []	220465	\N	\N	EFO	1	EFO	Rare genetic bone development disorder	Primary bone dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364526	"" []	576171	\N	\N	EFO	2	EFO	genetic disorder	Primary bone dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:364526	"" []	576172	\N	\N	EFO	2	EFO	bone disease	Primary bone dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:364526	"" []	576173	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Primary bone dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364526	"" []	2042607	\N	\N	EFO	4	EFO	disease	Primary bone dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:364526	"" []	1159280	\N	\N	EFO	3	EFO	skeletal system disease	Primary bone dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364526	"" []	1159281	\N	\N	EFO	3	EFO	genetic disorder	Primary bone dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364526	"" []	3000340	\N	\N	EFO	5	EFO	disposition	Primary bone dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364526	"" []	2042606	\N	\N	EFO	4	EFO	disease	Primary bone dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364526	"" []	4134009	\N	\N	EFO	6	EFO	material property	Primary bone dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364526	"" []	5182865	\N	\N	EFO	7	EFO	experimental factor	Primary bone dysplasia
Orphanet:364531	\N	\N	"" []	Orphanet:364531	"" []	77033	\N	\N	EFO	0	EFO	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Orphanet:364526	Orphanet:364531	\N	"" []	Orphanet:364531	"" []	220466	\N	\N	EFO	1	EFO	Primary bone dysplasia	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:364531	"" []	576174	\N	\N	EFO	2	EFO	Rare genetic bone disease	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:364531	"" []	576175	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364531	"" []	1159282	\N	\N	EFO	3	EFO	genetic disorder	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:364531	"" []	1159283	\N	\N	EFO	3	EFO	bone disease	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:364531	"" []	1159284	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364531	"" []	3192870	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:364531	"" []	2042609	\N	\N	EFO	4	EFO	skeletal system disease	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364531	"" []	2042610	\N	\N	EFO	4	EFO	genetic disorder	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364531	"" []	4134010	\N	\N	EFO	6	EFO	disposition	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364531	"" []	3192869	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364531	"" []	5182866	\N	\N	EFO	7	EFO	material property	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364531	"" []	5998236	\N	\N	EFO	8	EFO	experimental factor	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Orphanet:364536	\N	\N	"" []	Orphanet:364536	"" []	77034	\N	\N	EFO	0	EFO	Primary bone dysplasia with micromelia	Primary bone dysplasia with micromelia
Orphanet:364526	Orphanet:364536	\N	"" []	Orphanet:364536	"" []	220467	\N	\N	EFO	1	EFO	Primary bone dysplasia	Primary bone dysplasia with micromelia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:364536	"" []	576176	\N	\N	EFO	2	EFO	Rare genetic bone disease	Primary bone dysplasia with micromelia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:364536	"" []	576177	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Primary bone dysplasia with micromelia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364536	"" []	1159285	\N	\N	EFO	3	EFO	genetic disorder	Primary bone dysplasia with micromelia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:364536	"" []	1159286	\N	\N	EFO	3	EFO	bone disease	Primary bone dysplasia with micromelia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:364536	"" []	1159287	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Primary bone dysplasia with micromelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364536	"" []	3192873	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with micromelia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:364536	"" []	2042612	\N	\N	EFO	4	EFO	skeletal system disease	Primary bone dysplasia with micromelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364536	"" []	2042613	\N	\N	EFO	4	EFO	genetic disorder	Primary bone dysplasia with micromelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364536	"" []	4134011	\N	\N	EFO	6	EFO	disposition	Primary bone dysplasia with micromelia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364536	"" []	3192872	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with micromelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364536	"" []	5182867	\N	\N	EFO	7	EFO	material property	Primary bone dysplasia with micromelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364536	"" []	5998237	\N	\N	EFO	8	EFO	experimental factor	Primary bone dysplasia with micromelia
Orphanet:364541	\N	\N	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	77035	\N	\N	EFO	0	EFO	Frontootopalatodigital syndrome	Frontootopalatodigital syndrome
Orphanet:364526	Orphanet:364541	\N	"" []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	220468	\N	\N	EFO	1	EFO	Primary bone dysplasia	Frontootopalatodigital syndrome
Orphanet:93425	Orphanet:364541	\N	"" []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	220469	\N	\N	EFO	1	EFO	Filamin-related bone disorder	Frontootopalatodigital syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	576178	\N	\N	EFO	2	EFO	Rare genetic bone disease	Frontootopalatodigital syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	576179	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Frontootopalatodigital syndrome
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	576180	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Frontootopalatodigital syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	2042617	\N	\N	EFO	4	EFO	genetic disorder	Frontootopalatodigital syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	2042618	\N	\N	EFO	4	EFO	bone disease	Frontootopalatodigital syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	1159290	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Frontootopalatodigital syndrome
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	1159291	\N	\N	EFO	3	EFO	Rare genetic bone disease	Frontootopalatodigital syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	3000341	\N	\N	EFO	5	EFO	disease	Frontootopalatodigital syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	3000342	\N	\N	EFO	5	EFO	skeletal system disease	Frontootopalatodigital syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	2042616	\N	\N	EFO	4	EFO	genetic disorder	Frontootopalatodigital syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	5182869	\N	\N	EFO	7	EFO	disposition	Frontootopalatodigital syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	4134013	\N	\N	EFO	6	EFO	disease	Frontootopalatodigital syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	5877470	\N	\N	EFO	8	EFO	material property	Frontootopalatodigital syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364541	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	6470703	\N	\N	EFO	9	EFO	experimental factor	Frontootopalatodigital syndrome
Orphanet:364571	\N	\N	"" []	Orphanet:364571	"" []	77036	\N	\N	EFO	0	EFO	Dysostosis with limb and face anomalies as a major feature	Dysostosis with limb and face anomalies as a major feature
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:364571	"" []	220470	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Dysostosis with limb and face anomalies as a major feature
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:364571	"" []	576181	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Dysostosis with limb and face anomalies as a major feature
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:364571	"" []	1159292	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dysostosis with limb and face anomalies as a major feature
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:364571	"" []	1159293	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dysostosis with limb and face anomalies as a major feature
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364571	"" []	2042619	\N	\N	EFO	4	EFO	genetic disorder	Dysostosis with limb and face anomalies as a major feature
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:364571	"" []	2042620	\N	\N	EFO	4	EFO	bone disease	Dysostosis with limb and face anomalies as a major feature
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:364571	"" []	2042621	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dysostosis with limb and face anomalies as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364571	"" []	4399278	\N	\N	EFO	6	EFO	disease	Dysostosis with limb and face anomalies as a major feature
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:364571	"" []	3192877	\N	\N	EFO	5	EFO	skeletal system disease	Dysostosis with limb and face anomalies as a major feature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364571	"" []	3192878	\N	\N	EFO	5	EFO	genetic disorder	Dysostosis with limb and face anomalies as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364571	"" []	5182870	\N	\N	EFO	7	EFO	disposition	Dysostosis with limb and face anomalies as a major feature
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364571	"" []	4399277	\N	\N	EFO	6	EFO	disease	Dysostosis with limb and face anomalies as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364571	"" []	5998239	\N	\N	EFO	8	EFO	material property	Dysostosis with limb and face anomalies as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364571	"" []	6551476	\N	\N	EFO	9	EFO	experimental factor	Dysostosis with limb and face anomalies as a major feature
Orphanet:364574	\N	\N	"" []	Orphanet:364574	"" []	77037	\N	\N	EFO	0	EFO	Acrofacial dysostosis	Acrofacial dysostosis
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:364574	"" []	220471	\N	\N	EFO	1	EFO	Dysostosis with limb and face anomalies as a major feature	Acrofacial dysostosis
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:364574	"" []	220472	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Acrofacial dysostosis
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:364574	"" []	576182	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrofacial dysostosis
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:364574	"" []	576183	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrofacial dysostosis
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:364574	"" []	576184	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Acrofacial dysostosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:364574	"" []	1159294	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Acrofacial dysostosis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:364574	"" []	1159295	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Acrofacial dysostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:364574	"" []	2042622	\N	\N	EFO	4	EFO	Rare genetic bone disease	Acrofacial dysostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:364574	"" []	2042623	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Acrofacial dysostosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:364574	"" []	2042624	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364574	"" []	3192879	\N	\N	EFO	5	EFO	genetic disorder	Acrofacial dysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:364574	"" []	3192880	\N	\N	EFO	5	EFO	bone disease	Acrofacial dysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:364574	"" []	3192881	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364574	"" []	4399281	\N	\N	EFO	6	EFO	genetic disorder	Acrofacial dysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364574	"" []	5182871	\N	\N	EFO	7	EFO	disease	Acrofacial dysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:364574	"" []	4399280	\N	\N	EFO	6	EFO	skeletal system disease	Acrofacial dysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364574	"" []	5998240	\N	\N	EFO	8	EFO	disposition	Acrofacial dysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364574	"" []	5416280	\N	\N	EFO	7	EFO	disease	Acrofacial dysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364574	"" []	6551477	\N	\N	EFO	9	EFO	material property	Acrofacial dysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364574	"" []	6889450	\N	\N	EFO	10	EFO	experimental factor	Acrofacial dysostosis
Orphanet:364577	\N	\N	"" []	Orphanet:364577	"" []	77038	\N	\N	EFO	0	EFO	Intellectual disability-brachydactyly-Pierre Robin syndrome	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:102283	Orphanet:364577	\N	"" []	Orphanet:364577	"" []	220473	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:138063	Orphanet:364577	\N	"" []	Orphanet:364577	"" []	220474	\N	\N	EFO	1	EFO	Syndrome associated with Pierre Robin syndrome	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:183763	Orphanet:364577	\N	"" []	Orphanet:364577	"" []	220475	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:69028	Orphanet:364577	\N	"" []	Orphanet:364577	"" []	220476	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:364577	"" []	576185	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:363294	Orphanet:138063	\N	"" []	Orphanet:364577	"" []	576186	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:364577	"" []	576187	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:364577	"" []	576188	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:364577	"" []	576189	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:364577	"" []	1159296	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:364577	"" []	1159297	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:364577	"" []	1159298	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:364577	"" []	1159299	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:364577	"" []	1159300	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Intellectual disability-brachydactyly-Pierre Robin syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364577	"" []	5416282	\N	\N	EFO	7	EFO	genetic disorder	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:364577	"" []	2042626	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Intellectual disability-brachydactyly-Pierre Robin syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364577	"" []	2042627	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:364577	"" []	2042628	\N	\N	EFO	4	EFO	Rare genetic bone disease	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:364577	"" []	2042629	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:364577	"" []	2042630	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-brachydactyly-Pierre Robin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364577	"" []	5817744	\N	\N	EFO	8	EFO	disease	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:364577	"" []	3192884	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Intellectual disability-brachydactyly-Pierre Robin syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364577	"" []	3192885	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability-brachydactyly-Pierre Robin syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:364577	"" []	3192886	\N	\N	EFO	5	EFO	bone disease	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:364577	"" []	3192887	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-brachydactyly-Pierre Robin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364577	"" []	6410210	\N	\N	EFO	9	EFO	disposition	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:364577	"" []	4399283	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-brachydactyly-Pierre Robin syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:364577	"" []	4399284	\N	\N	EFO	6	EFO	skeletal system disease	Intellectual disability-brachydactyly-Pierre Robin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364577	"" []	6808042	\N	\N	EFO	10	EFO	material property	Intellectual disability-brachydactyly-Pierre Robin syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364577	"" []	5416283	\N	\N	EFO	7	EFO	disease	Intellectual disability-brachydactyly-Pierre Robin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364577	"" []	7048740	\N	\N	EFO	11	EFO	experimental factor	Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:364803	\N	\N	"" []	Orphanet:364803	"" []	77039	\N	\N	EFO	0	EFO	Rare bone disease related to a common gene or pathway defect	Rare bone disease related to a common gene or pathway defect
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:364803	"" []	220477	\N	\N	EFO	1	EFO	Rare genetic bone disease	Rare bone disease related to a common gene or pathway defect
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364803	"" []	576190	\N	\N	EFO	2	EFO	genetic disorder	Rare bone disease related to a common gene or pathway defect
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:364803	"" []	576191	\N	\N	EFO	2	EFO	bone disease	Rare bone disease related to a common gene or pathway defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364803	"" []	1159301	\N	\N	EFO	3	EFO	disease	Rare bone disease related to a common gene or pathway defect
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:364803	"" []	1159302	\N	\N	EFO	3	EFO	skeletal system disease	Rare bone disease related to a common gene or pathway defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364803	"" []	3192890	\N	\N	EFO	5	EFO	disposition	Rare bone disease related to a common gene or pathway defect
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364803	"" []	2042632	\N	\N	EFO	4	EFO	disease	Rare bone disease related to a common gene or pathway defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364803	"" []	4134015	\N	\N	EFO	6	EFO	material property	Rare bone disease related to a common gene or pathway defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364803	"" []	5182873	\N	\N	EFO	7	EFO	experimental factor	Rare bone disease related to a common gene or pathway defect
Orphanet:364817	\N	\N	"" []	Orphanet:364817	"" []	77040	\N	\N	EFO	0	EFO	Aggrecan-related bone disorder	Aggrecan-related bone disorder
Orphanet:364803	Orphanet:364817	\N	"" []	Orphanet:364817	"" []	220478	\N	\N	EFO	1	EFO	Rare bone disease related to a common gene or pathway defect	Aggrecan-related bone disorder
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:364817	"" []	576192	\N	\N	EFO	2	EFO	Rare genetic bone disease	Aggrecan-related bone disorder
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364817	"" []	1159303	\N	\N	EFO	3	EFO	genetic disorder	Aggrecan-related bone disorder
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:364817	"" []	1159304	\N	\N	EFO	3	EFO	bone disease	Aggrecan-related bone disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364817	"" []	2042633	\N	\N	EFO	4	EFO	disease	Aggrecan-related bone disorder
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:364817	"" []	2042634	\N	\N	EFO	4	EFO	skeletal system disease	Aggrecan-related bone disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364817	"" []	4399288	\N	\N	EFO	6	EFO	disposition	Aggrecan-related bone disorder
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364817	"" []	3192892	\N	\N	EFO	5	EFO	disease	Aggrecan-related bone disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364817	"" []	5182874	\N	\N	EFO	7	EFO	material property	Aggrecan-related bone disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364817	"" []	5998242	\N	\N	EFO	8	EFO	experimental factor	Aggrecan-related bone disorder
Orphanet:364820	\N	\N	"" []	Orphanet:364820	"" []	77041	\N	\N	EFO	0	EFO	TRPV4-related bone disorder	TRPV4-related bone disorder
Orphanet:364803	Orphanet:364820	\N	"" []	Orphanet:364820	"" []	220479	\N	\N	EFO	1	EFO	Rare bone disease related to a common gene or pathway defect	TRPV4-related bone disorder
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:364820	"" []	576193	\N	\N	EFO	2	EFO	Rare genetic bone disease	TRPV4-related bone disorder
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:364820	"" []	1159305	\N	\N	EFO	3	EFO	genetic disorder	TRPV4-related bone disorder
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:364820	"" []	1159306	\N	\N	EFO	3	EFO	bone disease	TRPV4-related bone disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364820	"" []	2042635	\N	\N	EFO	4	EFO	disease	TRPV4-related bone disorder
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:364820	"" []	2042636	\N	\N	EFO	4	EFO	skeletal system disease	TRPV4-related bone disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:364820	"" []	4399290	\N	\N	EFO	6	EFO	disposition	TRPV4-related bone disorder
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:364820	"" []	3192894	\N	\N	EFO	5	EFO	disease	TRPV4-related bone disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:364820	"" []	5182875	\N	\N	EFO	7	EFO	material property	TRPV4-related bone disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:364820	"" []	5998243	\N	\N	EFO	8	EFO	experimental factor	TRPV4-related bone disorder
Orphanet:365	\N	\N	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	77042	\N	\N	EFO	0	EFO	Glycogen storage disease due to acid maltase deficiency	Glycogen storage disease due to acid maltase deficiency
Orphanet:206959	Orphanet:365	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	220480	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to acid maltase deficiency
Orphanet:217572	Orphanet:365	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	220481	\N	\N	EFO	1	EFO	Glycogen storage disease with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency
Orphanet:217581	Orphanet:365	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	220482	\N	\N	EFO	1	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency
Orphanet:217638	Orphanet:365	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	220483	\N	\N	EFO	1	EFO	Lysosomal disease with restrictive cardiomyopathy	Glycogen storage disease due to acid maltase deficiency
Orphanet:309337	Orphanet:365	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	220484	\N	\N	EFO	1	EFO	Lysosomal glycogen storage disease	Glycogen storage disease due to acid maltase deficiency
Orphanet:79201	Orphanet:365	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	220485	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to acid maltase deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	576194	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to acid maltase deficiency
Orphanet:99739	Orphanet:217572	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	576195	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	576196	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen storage disease due to acid maltase deficiency
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	576197	\N	\N	EFO	2	EFO	Familial restrictive cardiomyopathy	Glycogen storage disease due to acid maltase deficiency
Orphanet:68366	Orphanet:309337	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	576198	\N	\N	EFO	2	EFO	Lysosomal disease	Glycogen storage disease due to acid maltase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	576199	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to acid maltase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	1159307	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to acid maltase deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	1159308	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Glycogen storage disease due to acid maltase deficiency
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	1159309	\N	\N	EFO	3	EFO	cardiomyopathy	Glycogen storage disease due to acid maltase deficiency
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	1159310	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Glycogen storage disease due to acid maltase deficiency
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	1159311	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to acid maltase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	1159312	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to acid maltase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	2042637	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to acid maltase deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	2042638	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to acid maltase deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	2042639	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to acid maltase deficiency
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	2042640	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to acid maltase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	2042641	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to acid maltase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	2042642	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to acid maltase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	3192895	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to acid maltase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	6151847	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to acid maltase deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	3192897	\N	\N	EFO	5	EFO	cardiovascular disease	Glycogen storage disease due to acid maltase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	3192898	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to acid maltase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	4399291	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to acid maltase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	4399292	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to acid maltase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	6410211	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to acid maltase deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	4399294	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to acid maltase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	5416286	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to acid maltase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	5416287	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to acid maltase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	6808043	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to acid maltase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	6151846	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to acid maltase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:365	"Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." []	7048741	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to acid maltase deficiency
Orphanet:365563	\N	\N	"" []	Orphanet:365563	"" []	77043	\N	\N	EFO	0	EFO	Primary short bowel syndrome	Primary short bowel syndrome
Orphanet:165655	Orphanet:365563	\N	"" []	Orphanet:365563	"" []	220486	\N	\N	EFO	1	EFO	Genetic intestinal disease	Primary short bowel syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:365563	"" []	576200	\N	\N	EFO	2	EFO	digestive system disease	Primary short bowel syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:365563	"" []	576201	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Primary short bowel syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:365563	"" []	1159313	\N	\N	EFO	3	EFO	disease	Primary short bowel syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:365563	"" []	1159314	\N	\N	EFO	3	EFO	genetic disorder	Primary short bowel syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:365563	"" []	3192900	\N	\N	EFO	5	EFO	disposition	Primary short bowel syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:365563	"" []	2042644	\N	\N	EFO	4	EFO	disease	Primary short bowel syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:365563	"" []	4134016	\N	\N	EFO	6	EFO	material property	Primary short bowel syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:365563	"" []	5182876	\N	\N	EFO	7	EFO	experimental factor	Primary short bowel syndrome
Orphanet:366	\N	\N	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	77044	\N	\N	EFO	0	EFO	Glycogen storage disease due to glycogen debranching enzyme deficiency	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:206959	Orphanet:366	\N	"" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	220487	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:217572	Orphanet:366	\N	"" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	220488	\N	\N	EFO	1	EFO	Glycogen storage disease with hypertrophic cardiomyopathy	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:79201	Orphanet:366	\N	"" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	220489	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	576202	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:99739	Orphanet:217572	\N	"" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	576203	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	576204	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	1159315	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	1159316	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	1159317	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	2042645	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	2042646	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	2042647	\N	\N	EFO	4	EFO	heart disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	2042648	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	2042649	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	3192901	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	6151850	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	3192903	\N	\N	EFO	5	EFO	cardiovascular disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	3192904	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	4399296	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	4399297	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to glycogen debranching enzyme deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	6410212	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	4399299	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	5416290	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	5416291	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to glycogen debranching enzyme deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	6808044	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	6151849	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to glycogen debranching enzyme deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:366	"An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent." []	7048742	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to glycogen debranching enzyme deficiency
Orphanet:367	\N	\N	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	77045	\N	\N	EFO	0	EFO	Glycogen storage disease due to glycogen branching enzyme deficiency	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:101940	Orphanet:367	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	220490	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:206959	Orphanet:367	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	220491	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:217607	Orphanet:367	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	220492	\N	\N	EFO	1	EFO	Familial dilated cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:79201	Orphanet:367	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	220493	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	576205	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	576206	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	576207	\N	\N	EFO	2	EFO	cardiomyopathy	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	576208	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	576209	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	1159318	\N	\N	EFO	3	EFO	digestive system disease	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	1159319	\N	\N	EFO	3	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	1159320	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	1159321	\N	\N	EFO	3	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	1159322	\N	\N	EFO	3	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	1159323	\N	\N	EFO	3	EFO	heart disease	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	1159324	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	2042650	\N	\N	EFO	4	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	6151853	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	2042652	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	2042653	\N	\N	EFO	4	EFO	cardiovascular disease	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	2042654	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	2042655	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to glycogen branching enzyme deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	6378944	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	3192906	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	3192907	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	3192909	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	6778771	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	4399301	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	4399302	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	7029968	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	5416295	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	5416296	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to glycogen branching enzyme deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:367	"An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2." []	6151852	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to glycogen branching enzyme deficiency
Orphanet:368	\N	\N	"" []	Orphanet:368	"" []	77046	\N	\N	EFO	0	EFO	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Orphanet:206959	Orphanet:368	\N	"" []	Orphanet:368	"" []	220494	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Orphanet:79201	Orphanet:368	\N	"" []	Orphanet:368	"" []	220495	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:368	"" []	576210	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:368	"" []	576211	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:368	"" []	1159325	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:368	"" []	1159326	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:368	"" []	2042656	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:368	"" []	2042657	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:368	"" []	2042658	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:368	"" []	3192910	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:368	"" []	6151855	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:368	"" []	3192912	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:368	"" []	4399303	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:368	"" []	4399304	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:368	"" []	6410213	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:368	"" []	5416297	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:368	"" []	5416298	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:368	"" []	6808045	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:368	"" []	6151854	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:368	"" []	7048743	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Orphanet:36899	\N	\N	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	77047	\N	\N	EFO	0	EFO	Myoclonus-dystonia syndrome	Myoclonus-dystonia syndrome
Orphanet:306750	Orphanet:36899	\N	"" []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	220496	\N	\N	EFO	1	EFO	Primary myoclonus	Myoclonus-dystonia syndrome
Orphanet:391711	Orphanet:36899	\N	"" []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	220497	\N	\N	EFO	1	EFO	Persistent combined dystonia	Myoclonus-dystonia syndrome
Orphanet:307064	Orphanet:306750	\N	"" []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	576212	\N	\N	EFO	2	EFO	Rare genetic myoclonus	Myoclonus-dystonia syndrome
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	576213	\N	\N	EFO	2	EFO	Combined dystonia	Myoclonus-dystonia syndrome
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	1159327	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Myoclonus-dystonia syndrome
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	1159328	\N	\N	EFO	3	EFO	Rare genetic dystonia	Myoclonus-dystonia syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	3192915	\N	\N	EFO	5	EFO	movement disorder	Myoclonus-dystonia syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	3192916	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Myoclonus-dystonia syndrome
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	2042661	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Myoclonus-dystonia syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	4134018	\N	\N	EFO	6	EFO	nervous system disease	Myoclonus-dystonia syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	4134019	\N	\N	EFO	6	EFO	genetic disorder	Myoclonus-dystonia syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	5182878	\N	\N	EFO	7	EFO	disease	Myoclonus-dystonia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	5182879	\N	\N	EFO	7	EFO	disease	Myoclonus-dystonia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	5998247	\N	\N	EFO	8	EFO	disposition	Myoclonus-dystonia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	6551481	\N	\N	EFO	9	EFO	material property	Myoclonus-dystonia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:36899	"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." []	6889451	\N	\N	EFO	10	EFO	experimental factor	Myoclonus-dystonia syndrome
Orphanet:369	\N	\N	"" []	Orphanet:369	"" []	77048	\N	\N	EFO	0	EFO	Glycogen storage disease due to liver glycogen phosphorylase deficiency	Glycogen storage disease due to liver glycogen phosphorylase deficiency
Orphanet:101940	Orphanet:369	\N	"" []	Orphanet:369	"" []	220498	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Glycogen storage disease due to liver glycogen phosphorylase deficiency
Orphanet:79201	Orphanet:369	\N	"" []	Orphanet:369	"" []	220499	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to liver glycogen phosphorylase deficiency
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:369	"" []	576214	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Glycogen storage disease due to liver glycogen phosphorylase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:369	"" []	576215	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to liver glycogen phosphorylase deficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:369	"" []	1159329	\N	\N	EFO	3	EFO	digestive system disease	Glycogen storage disease due to liver glycogen phosphorylase deficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369	"" []	1159330	\N	\N	EFO	3	EFO	genetic disorder	Glycogen storage disease due to liver glycogen phosphorylase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:369	"" []	1159331	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to liver glycogen phosphorylase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369	"" []	2042662	\N	\N	EFO	4	EFO	disease	Glycogen storage disease due to liver glycogen phosphorylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369	"" []	3192918	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to liver glycogen phosphorylase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369	"" []	2042664	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to liver glycogen phosphorylase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:369	"" []	2042665	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to liver glycogen phosphorylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369	"" []	4134020	\N	\N	EFO	6	EFO	disposition	Glycogen storage disease due to liver glycogen phosphorylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369	"" []	3192919	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to liver glycogen phosphorylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369	"" []	5182880	\N	\N	EFO	7	EFO	material property	Glycogen storage disease due to liver glycogen phosphorylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369	"" []	5998248	\N	\N	EFO	8	EFO	experimental factor	Glycogen storage disease due to liver glycogen phosphorylase deficiency
Orphanet:369837	\N	\N	"" []	Orphanet:369837	"" []	77049	\N	\N	EFO	0	EFO	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Orphanet:102283	Orphanet:369837	\N	"" []	Orphanet:369837	"" []	220500	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Orphanet:183763	Orphanet:369837	\N	"" []	Orphanet:369837	"" []	220501	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Orphanet:93440	Orphanet:369837	\N	"" []	Orphanet:369837	"" []	220502	\N	\N	EFO	1	EFO	Slender bone dysplasia	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:369837	"" []	576216	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:369837	"" []	576217	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:369837	"" []	576218	\N	\N	EFO	2	EFO	Primary bone dysplasia	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:369837	"" []	1159332	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:369837	"" []	1159333	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:369837	"" []	1159334	\N	\N	EFO	3	EFO	Rare genetic bone disease	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:369837	"" []	1159335	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369837	"" []	3192922	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369837	"" []	2042667	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369837	"" []	2042668	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:369837	"" []	2042669	\N	\N	EFO	4	EFO	bone disease	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:369837	"" []	2042670	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369837	"" []	4134021	\N	\N	EFO	6	EFO	disease	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:369837	"" []	3192921	\N	\N	EFO	5	EFO	skeletal system disease	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369837	"" []	5182881	\N	\N	EFO	7	EFO	disposition	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369837	"" []	4399310	\N	\N	EFO	6	EFO	disease	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369837	"" []	5998249	\N	\N	EFO	8	EFO	material property	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369837	"" []	6551482	\N	\N	EFO	9	EFO	experimental factor	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Orphanet:369840	\N	\N	"" []	Orphanet:369840	"" []	77050	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2S	Autosomal recessive limb-girdle muscular dystrophy type 2S
Orphanet:102015	Orphanet:369840	\N	"" []	Orphanet:369840	"" []	220503	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2S
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:369840	"" []	576219	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2S
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:369840	"" []	1159336	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2S
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:369840	"" []	2042671	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2S
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:369840	"" []	3192923	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2S
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:369840	"" []	4399311	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2S
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:369840	"" []	5416303	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2S
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:369840	"" []	5416304	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2S
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:369840	"" []	6151859	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2S
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369840	"" []	6151860	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2S
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369840	"" []	6633822	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2S
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369840	"" []	6633823	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2S
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369840	"" []	6926135	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2S
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369840	"" []	7099287	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2S
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369840	"" []	7208352	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2S
Orphanet:369847	\N	\N	"" []	Orphanet:369847	"" []	77051	\N	\N	EFO	0	EFO	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Orphanet:183521	Orphanet:369847	\N	"" []	Orphanet:369847	"" []	220504	\N	\N	EFO	1	EFO	Rare genetic movement disorder	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Orphanet:183763	Orphanet:369847	\N	"" []	Orphanet:369847	"" []	220505	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:369847	"" []	576220	\N	\N	EFO	2	EFO	movement disorder	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:369847	"" []	576221	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:369847	"" []	576222	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:369847	"" []	1159337	\N	\N	EFO	3	EFO	nervous system disease	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369847	"" []	2042674	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:369847	"" []	1159339	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369847	"" []	2042672	\N	\N	EFO	4	EFO	disease	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369847	"" []	3000343	\N	\N	EFO	5	EFO	disease	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369847	"" []	4134022	\N	\N	EFO	6	EFO	disposition	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369847	"" []	5182882	\N	\N	EFO	7	EFO	material property	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369847	"" []	5998250	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Orphanet:369852	\N	\N	"" []	Orphanet:369852	"" []	77052	\N	\N	EFO	0	EFO	Recurrent infections-myelofibrosis-nephromegaly syndrome	Recurrent infections-myelofibrosis-nephromegaly syndrome
Orphanet:331184	Orphanet:369852	\N	"" []	Orphanet:369852	"" []	220506	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Recurrent infections-myelofibrosis-nephromegaly syndrome
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:369852	"" []	576223	\N	\N	EFO	2	EFO	Constitutional neutropenia	Recurrent infections-myelofibrosis-nephromegaly syndrome
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:369852	"" []	1159340	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Recurrent infections-myelofibrosis-nephromegaly syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:369852	"" []	2042675	\N	\N	EFO	4	EFO	Primary immunodeficiency	Recurrent infections-myelofibrosis-nephromegaly syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:369852	"" []	3192925	\N	\N	EFO	5	EFO	Rare genetic immune disease	Recurrent infections-myelofibrosis-nephromegaly syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369852	"" []	4399313	\N	\N	EFO	6	EFO	genetic disorder	Recurrent infections-myelofibrosis-nephromegaly syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:369852	"" []	4399314	\N	\N	EFO	6	EFO	immune system disease	Recurrent infections-myelofibrosis-nephromegaly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369852	"" []	5416306	\N	\N	EFO	7	EFO	disease	Recurrent infections-myelofibrosis-nephromegaly syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369852	"" []	5416307	\N	\N	EFO	7	EFO	disease	Recurrent infections-myelofibrosis-nephromegaly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369852	"" []	6151861	\N	\N	EFO	8	EFO	disposition	Recurrent infections-myelofibrosis-nephromegaly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369852	"" []	6633824	\N	\N	EFO	9	EFO	material property	Recurrent infections-myelofibrosis-nephromegaly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369852	"" []	6926136	\N	\N	EFO	10	EFO	experimental factor	Recurrent infections-myelofibrosis-nephromegaly syndrome
Orphanet:369861	\N	\N	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	77053	\N	\N	EFO	0	EFO	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Orphanet:331244	Orphanet:369861	\N	"" []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	220507	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome with predominantly antibody defects	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Orphanet:98362	Orphanet:369861	\N	"" []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	220508	\N	\N	EFO	1	EFO	Constitutional sideroblastic anemia	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Orphanet:101977	Orphanet:331244	\N	"" []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	576224	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Orphanet:183651	Orphanet:98362	\N	"" []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	576225	\N	\N	EFO	2	EFO	Rare constitutional anemia	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	1159341	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	1159342	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	2042676	\N	\N	EFO	4	EFO	Primary immunodeficiency	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	2042677	\N	\N	EFO	4	EFO	genetic disorder	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	2042678	\N	\N	EFO	4	EFO	hematological system disease	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	3192926	\N	\N	EFO	5	EFO	Rare genetic immune disease	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	5416308	\N	\N	EFO	7	EFO	disease	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	3192928	\N	\N	EFO	5	EFO	disease	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	4399315	\N	\N	EFO	6	EFO	genetic disorder	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	4399316	\N	\N	EFO	6	EFO	immune system disease	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	5877472	\N	\N	EFO	8	EFO	disposition	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	5416309	\N	\N	EFO	7	EFO	disease	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	6470705	\N	\N	EFO	9	EFO	material property	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369861	"Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." []	6848672	\N	\N	EFO	10	EFO	experimental factor	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Orphanet:369867	\N	\N	"" []	Orphanet:369867	"" []	77054	\N	\N	EFO	0	EFO	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Orphanet:268337	Orphanet:369867	\N	"" []	Orphanet:369867	"" []	220509	\N	\N	EFO	1	EFO	Autosomal recessive intermediate Charcot-Marie-Tooth disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Orphanet:140450	Orphanet:268337	\N	"" []	Orphanet:369867	"" []	576226	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Orphanet:166	Orphanet:268337	\N	"" []	Orphanet:369867	"" []	576227	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:369867	"" []	1159343	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:369867	"" []	1159344	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:369867	"" []	1159345	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:369867	"" []	2042679	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:369867	"" []	2042680	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:369867	"" []	3192929	\N	\N	EFO	5	EFO	nervous system disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369867	"" []	3192930	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369867	"" []	4399318	\N	\N	EFO	6	EFO	disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369867	"" []	4399319	\N	\N	EFO	6	EFO	disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369867	"" []	5416311	\N	\N	EFO	7	EFO	disposition	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369867	"" []	6151863	\N	\N	EFO	8	EFO	material property	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369867	"" []	6633825	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Orphanet:369873	\N	\N	"" []	Orphanet:369873	"" []	77055	\N	\N	EFO	0	EFO	Obesity due to SIM1 deficiency	Obesity due to SIM1 deficiency
Orphanet:98267	Orphanet:369873	\N	"" []	Orphanet:369873	"" []	220510	\N	\N	EFO	1	EFO	Genetic non-syndromic obesity	Obesity due to SIM1 deficiency
Orphanet:77828	Orphanet:98267	\N	"" []	Orphanet:369873	"" []	576228	\N	\N	EFO	2	EFO	Genetic obesity	Obesity due to SIM1 deficiency
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:369873	"" []	1159346	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Obesity due to SIM1 deficiency
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:369873	"" []	1159347	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Obesity due to SIM1 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369873	"" []	2042681	\N	\N	EFO	4	EFO	genetic disorder	Obesity due to SIM1 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:369873	"" []	2042682	\N	\N	EFO	4	EFO	endocrine system disease	Obesity due to SIM1 deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:369873	"" []	2042683	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Obesity due to SIM1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369873	"" []	4399321	\N	\N	EFO	6	EFO	disease	Obesity due to SIM1 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369873	"" []	3192932	\N	\N	EFO	5	EFO	disease	Obesity due to SIM1 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369873	"" []	3192933	\N	\N	EFO	5	EFO	genetic disorder	Obesity due to SIM1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369873	"" []	5182883	\N	\N	EFO	7	EFO	disposition	Obesity due to SIM1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369873	"" []	5998251	\N	\N	EFO	8	EFO	material property	Obesity due to SIM1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369873	"" []	6551483	\N	\N	EFO	9	EFO	experimental factor	Obesity due to SIM1 deficiency
Orphanet:369881	\N	\N	"" []	Orphanet:369881	"" []	77056	\N	\N	EFO	0	EFO	2p21 microdeletion syndrome without cystinuria	2p21 microdeletion syndrome without cystinuria
Orphanet:369886	Orphanet:369881	\N	"" []	Orphanet:369881	"" []	220511	\N	\N	EFO	1	EFO	Homozygous 2p21 microdeletion syndrome	2p21 microdeletion syndrome without cystinuria
Orphanet:261866	Orphanet:369886	\N	"" []	Orphanet:369881	"" []	576229	\N	\N	EFO	2	EFO	Partial deletion of the short arm of chromosome 2	2p21 microdeletion syndrome without cystinuria
Orphanet:261771	Orphanet:261866	\N	"" []	Orphanet:369881	"" []	1159348	\N	\N	EFO	3	EFO	Partial deletion of chromosome 2	2p21 microdeletion syndrome without cystinuria
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:369881	"" []	2042684	\N	\N	EFO	4	EFO	Partial autosomal monosomy	2p21 microdeletion syndrome without cystinuria
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:369881	"" []	3192934	\N	\N	EFO	5	EFO	Autosomal monosomy	2p21 microdeletion syndrome without cystinuria
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:369881	"" []	4399322	\N	\N	EFO	6	EFO	Autosomal anomaly	2p21 microdeletion syndrome without cystinuria
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:369881	"" []	5416313	\N	\N	EFO	7	EFO	Chromosomal anomaly	2p21 microdeletion syndrome without cystinuria
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369881	"" []	6151865	\N	\N	EFO	8	EFO	genetic disorder	2p21 microdeletion syndrome without cystinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369881	"" []	6633826	\N	\N	EFO	9	EFO	disease	2p21 microdeletion syndrome without cystinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369881	"" []	6926137	\N	\N	EFO	10	EFO	disposition	2p21 microdeletion syndrome without cystinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369881	"" []	7099288	\N	\N	EFO	11	EFO	material property	2p21 microdeletion syndrome without cystinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369881	"" []	7208353	\N	\N	EFO	12	EFO	experimental factor	2p21 microdeletion syndrome without cystinuria
Orphanet:369886	\N	\N	"" []	Orphanet:369886	"" []	77057	\N	\N	EFO	0	EFO	Homozygous 2p21 microdeletion syndrome	Homozygous 2p21 microdeletion syndrome
Orphanet:261866	Orphanet:369886	\N	"" []	Orphanet:369886	"" []	220512	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 2	Homozygous 2p21 microdeletion syndrome
Orphanet:261771	Orphanet:261866	\N	"" []	Orphanet:369886	"" []	576230	\N	\N	EFO	2	EFO	Partial deletion of chromosome 2	Homozygous 2p21 microdeletion syndrome
Orphanet:98142	Orphanet:261771	\N	"" []	Orphanet:369886	"" []	1159349	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Homozygous 2p21 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:369886	"" []	2042685	\N	\N	EFO	4	EFO	Autosomal monosomy	Homozygous 2p21 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:369886	"" []	3192935	\N	\N	EFO	5	EFO	Autosomal anomaly	Homozygous 2p21 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:369886	"" []	4399323	\N	\N	EFO	6	EFO	Chromosomal anomaly	Homozygous 2p21 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369886	"" []	5416314	\N	\N	EFO	7	EFO	genetic disorder	Homozygous 2p21 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369886	"" []	6151866	\N	\N	EFO	8	EFO	disease	Homozygous 2p21 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369886	"" []	6633827	\N	\N	EFO	9	EFO	disposition	Homozygous 2p21 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369886	"" []	6926138	\N	\N	EFO	10	EFO	material property	Homozygous 2p21 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369886	"" []	7099289	\N	\N	EFO	11	EFO	experimental factor	Homozygous 2p21 microdeletion syndrome
Orphanet:369891	\N	\N	"" []	Orphanet:369891	"" []	77058	\N	\N	EFO	0	EFO	Cardiac anomalies-developmental delay-facial dysmorphism syndrome	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Orphanet:102283	Orphanet:369891	\N	"" []	Orphanet:369891	"" []	220513	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Orphanet:156532	Orphanet:369891	\N	"" []	Orphanet:369891	"" []	220514	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Orphanet:183763	Orphanet:369891	\N	"" []	Orphanet:369891	"" []	220515	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Orphanet:271853	Orphanet:369891	\N	"" []	Orphanet:369891	"" []	220516	\N	\N	EFO	1	EFO	Genetic cardiac anomaly	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:369891	"" []	576231	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:369891	"" []	576232	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:369891	"" []	576233	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:369891	"" []	576234	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:369891	"" []	1159350	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369891	"" []	1159351	\N	\N	EFO	3	EFO	genetic disorder	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:369891	"" []	1159352	\N	\N	EFO	3	EFO	heart disease	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:369891	"" []	1159353	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369891	"" []	2042686	\N	\N	EFO	4	EFO	genetic disorder	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369891	"" []	3000344	\N	\N	EFO	5	EFO	disease	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:369891	"" []	2042688	\N	\N	EFO	4	EFO	cardiovascular disease	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369891	"" []	2042689	\N	\N	EFO	4	EFO	genetic disorder	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369891	"" []	4134023	\N	\N	EFO	6	EFO	disposition	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369891	"" []	3192937	\N	\N	EFO	5	EFO	disease	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369891	"" []	5182884	\N	\N	EFO	7	EFO	material property	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369891	"" []	5998252	\N	\N	EFO	8	EFO	experimental factor	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Orphanet:369894	\N	\N	"" []	Orphanet:369894	"" []	77059	\N	\N	EFO	0	EFO	Early infantile epileptic encephalopathy without suppression burst	Early infantile epileptic encephalopathy without suppression burst
Orphanet:102283	Orphanet:369894	\N	"" []	Orphanet:369894	"" []	220517	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Early infantile epileptic encephalopathy without suppression burst
Orphanet:166472	Orphanet:369894	\N	"" []	Orphanet:369894	"" []	220518	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Early infantile epileptic encephalopathy without suppression burst
Orphanet:98257	Orphanet:369894	\N	"" []	Orphanet:369894	"" []	220519	\N	\N	EFO	1	EFO	Neonatal epilepsy syndrome	Early infantile epileptic encephalopathy without suppression burst
Orphanet:98258	Orphanet:369894	\N	"" []	Orphanet:369894	"" []	220520	\N	\N	EFO	1	EFO	Infantile epilepsy syndrome	Early infantile epileptic encephalopathy without suppression burst
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:369894	"" []	576235	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Early infantile epileptic encephalopathy without suppression burst
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:369894	"" []	576236	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Early infantile epileptic encephalopathy without suppression burst
Orphanet:166463	Orphanet:98257	\N	"" []	Orphanet:369894	"" []	576237	\N	\N	EFO	2	EFO	Epilepsy syndrome	Early infantile epileptic encephalopathy without suppression burst
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:369894	"" []	576238	\N	\N	EFO	2	EFO	Epilepsy syndrome	Early infantile epileptic encephalopathy without suppression burst
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:369894	"" []	1159355	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Early infantile epileptic encephalopathy without suppression burst
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:369894	"" []	2042692	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Early infantile epileptic encephalopathy without suppression burst
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:369894	"" []	1159357	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Early infantile epileptic encephalopathy without suppression burst
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369894	"" []	2042690	\N	\N	EFO	4	EFO	genetic disorder	Early infantile epileptic encephalopathy without suppression burst
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369894	"" []	3000345	\N	\N	EFO	5	EFO	genetic disorder	Early infantile epileptic encephalopathy without suppression burst
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369894	"" []	4134024	\N	\N	EFO	6	EFO	disease	Early infantile epileptic encephalopathy without suppression burst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369894	"" []	5182885	\N	\N	EFO	7	EFO	disposition	Early infantile epileptic encephalopathy without suppression burst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369894	"" []	5998253	\N	\N	EFO	8	EFO	material property	Early infantile epileptic encephalopathy without suppression burst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369894	"" []	6551484	\N	\N	EFO	9	EFO	experimental factor	Early infantile epileptic encephalopathy without suppression burst
Orphanet:369897	\N	\N	"" []	Orphanet:369897	"" []	77060	\N	\N	EFO	0	EFO	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:254803	Orphanet:369897	\N	"" []	Orphanet:369897	"" []	220521	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome, encephalomyopathic form	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:35698	Orphanet:254803	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:369897	"" []	576239	\N	\N	EFO	2	EFO	Mitochondrial DNA depletion syndrome	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:68385	Orphanet:254803	\N	"" []	Orphanet:369897	"" []	576240	\N	\N	EFO	2	EFO	Neurometabolic disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:369897	"" []	1159358	\N	\N	EFO	3	EFO	Metabolic disease with intestinal involvement	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:369897	"" []	1159359	\N	\N	EFO	3	EFO	Mitochondrial myopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:369897	"" []	1159360	\N	\N	EFO	3	EFO	Mitochondrial DNA maintenance syndrome	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:369897	"" []	1159361	\N	\N	EFO	3	EFO	Mitochondrial disease with eye involvement	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:369897	"" []	1159362	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:369897	"" []	2042693	\N	\N	EFO	4	EFO	Genetic intestinal disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:369897	"" []	2042694	\N	\N	EFO	4	EFO	Muscular lipidosis	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:369897	"" []	2042695	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:369897	"" []	2042696	\N	\N	EFO	4	EFO	Metabolic disease associated with ocular features	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369897	"" []	6926140	\N	\N	EFO	10	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:369897	"" []	3192939	\N	\N	EFO	5	EFO	digestive system disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:369897	"" []	3192940	\N	\N	EFO	5	EFO	Rare genetic gastroenterological disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:369897	"" []	3192941	\N	\N	EFO	5	EFO	Metabolic myopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:369897	"" []	3192942	\N	\N	EFO	5	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:369897	"" []	3192943	\N	\N	EFO	5	EFO	Rare genetic eye disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369897	"" []	7008646	\N	\N	EFO	11	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369897	"" []	4399326	\N	\N	EFO	6	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369897	"" []	4399327	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:369897	"" []	4399328	\N	\N	EFO	6	EFO	Non-dystrophic myopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:369897	"" []	4399329	\N	\N	EFO	6	EFO	Mitochondrial disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369897	"" []	4399330	\N	\N	EFO	6	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:369897	"" []	4399331	\N	\N	EFO	6	EFO	eye disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369897	"" []	7167539	\N	\N	EFO	12	EFO	disposition	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:369897	"" []	5416319	\N	\N	EFO	7	EFO	Genetic skeletal muscle disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:369897	"" []	5416320	\N	\N	EFO	7	EFO	Developmental anomaly of metabolic origin	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:369897	"" []	5416321	\N	\N	EFO	7	EFO	Disorder of energy metabolism	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369897	"" []	5416322	\N	\N	EFO	7	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369897	"" []	7272443	\N	\N	EFO	13	EFO	material property	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:369897	"" []	6151868	\N	\N	EFO	8	EFO	Genetic neuromuscular disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:369897	"" []	6151869	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:369897	"" []	6151870	\N	\N	EFO	8	EFO	Inborn errors of metabolism	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369897	"" []	7348682	\N	\N	EFO	14	EFO	experimental factor	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:369897	"" []	6633828	\N	\N	EFO	9	EFO	muscular disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:369897	"" []	6633829	\N	\N	EFO	9	EFO	Rare genetic neurological disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369897	"" []	6633830	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369897	"" []	6633831	\N	\N	EFO	9	EFO	genetic disorder	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:369897	"" []	6633832	\N	\N	EFO	9	EFO	metabolic disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:369897	"" []	6926139	\N	\N	EFO	10	EFO	skeletal system disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369897	"" []	6926142	\N	\N	EFO	10	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369897	"" []	7099290	\N	\N	EFO	11	EFO	disease	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Orphanet:369902	\N	\N	"" []	Orphanet:369902	"" []	77061	\N	\N	EFO	0	EFO	Orofaciodigital syndrome type 14	Orofaciodigital syndrome type 14
Orphanet:140997	Orphanet:369902	\N	"" []	Orphanet:369902	"" []	220522	\N	\N	EFO	1	EFO	Orofaciodigital syndrome	Orofaciodigital syndrome type 14
Orphanet:156215	Orphanet:140997	\N	"" []	Orphanet:369902	"" []	576241	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Orofaciodigital syndrome type 14
Orphanet:156237	Orphanet:140997	\N	"" []	Orphanet:369902	"" []	576242	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Orofaciodigital syndrome type 14
Orphanet:183576	Orphanet:140997	\N	"" []	Orphanet:369902	"" []	576243	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Orofaciodigital syndrome type 14
Orphanet:294959	Orphanet:140997	\N	"" []	Orphanet:369902	"" []	576244	\N	\N	EFO	2	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orofaciodigital syndrome type 14
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:369902	"" []	1159363	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Orofaciodigital syndrome type 14
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:369902	"" []	1159364	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Orofaciodigital syndrome type 14
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:369902	"" []	1159365	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 14
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:369902	"" []	1159366	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Orofaciodigital syndrome type 14
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:369902	"" []	1159367	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Orofaciodigital syndrome type 14
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:369902	"" []	2042698	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 14
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:369902	"" []	2042699	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Orofaciodigital syndrome type 14
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369902	"" []	5416326	\N	\N	EFO	7	EFO	genetic disorder	Orofaciodigital syndrome type 14
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:369902	"" []	2042701	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Orofaciodigital syndrome type 14
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:369902	"" []	2042702	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Orofaciodigital syndrome type 14
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:369902	"" []	3192945	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 14
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369902	"" []	5817745	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 14
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:369902	"" []	3192947	\N	\N	EFO	5	EFO	Rare genetic bone disease	Orofaciodigital syndrome type 14
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:369902	"" []	3192948	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Orofaciodigital syndrome type 14
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:369902	"" []	3192949	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 14
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369902	"" []	6410214	\N	\N	EFO	9	EFO	disposition	Orofaciodigital syndrome type 14
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369902	"" []	4399335	\N	\N	EFO	6	EFO	genetic disorder	Orofaciodigital syndrome type 14
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:369902	"" []	4399336	\N	\N	EFO	6	EFO	bone disease	Orofaciodigital syndrome type 14
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:369902	"" []	4399337	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Orofaciodigital syndrome type 14
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369902	"" []	6808046	\N	\N	EFO	10	EFO	material property	Orofaciodigital syndrome type 14
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:369902	"" []	5416325	\N	\N	EFO	7	EFO	skeletal system disease	Orofaciodigital syndrome type 14
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369902	"" []	7048744	\N	\N	EFO	11	EFO	experimental factor	Orofaciodigital syndrome type 14
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369902	"" []	6151873	\N	\N	EFO	8	EFO	disease	Orofaciodigital syndrome type 14
Orphanet:369913	\N	\N	"" []	Orphanet:369913	"" []	77062	\N	\N	EFO	0	EFO	Combined oxidative phosphorylation defect type 17	Combined oxidative phosphorylation defect type 17
Orphanet:217587	Orphanet:369913	\N	"" []	Orphanet:369913	"" []	220523	\N	\N	EFO	1	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	Combined oxidative phosphorylation defect type 17
Orphanet:35696	Orphanet:369913	\N	"" []	Orphanet:369913	"" []	220524	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Combined oxidative phosphorylation defect type 17
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:369913	"" []	576245	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Combined oxidative phosphorylation defect type 17
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:369913	"" []	576246	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Combined oxidative phosphorylation defect type 17
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:369913	"" []	1159368	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Combined oxidative phosphorylation defect type 17
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:369913	"" []	1159369	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Combined oxidative phosphorylation defect type 17
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369913	"" []	2042703	\N	\N	EFO	4	EFO	genetic disorder	Combined oxidative phosphorylation defect type 17
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:369913	"" []	2042704	\N	\N	EFO	4	EFO	heart disease	Combined oxidative phosphorylation defect type 17
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:369913	"" []	2042705	\N	\N	EFO	4	EFO	Mitochondrial disease	Combined oxidative phosphorylation defect type 17
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369913	"" []	6151875	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 17
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:369913	"" []	3192951	\N	\N	EFO	5	EFO	cardiovascular disease	Combined oxidative phosphorylation defect type 17
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:369913	"" []	3192952	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Combined oxidative phosphorylation defect type 17
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:369913	"" []	3192953	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Combined oxidative phosphorylation defect type 17
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369913	"" []	6410215	\N	\N	EFO	9	EFO	disposition	Combined oxidative phosphorylation defect type 17
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369913	"" []	4399339	\N	\N	EFO	6	EFO	disease	Combined oxidative phosphorylation defect type 17
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:369913	"" []	4399340	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Combined oxidative phosphorylation defect type 17
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:369913	"" []	4399341	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Combined oxidative phosphorylation defect type 17
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369913	"" []	6808047	\N	\N	EFO	10	EFO	material property	Combined oxidative phosphorylation defect type 17
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369913	"" []	5416329	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 17
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369913	"" []	5416330	\N	\N	EFO	7	EFO	genetic disorder	Combined oxidative phosphorylation defect type 17
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:369913	"" []	5416331	\N	\N	EFO	7	EFO	metabolic disease	Combined oxidative phosphorylation defect type 17
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369913	"" []	7048745	\N	\N	EFO	11	EFO	experimental factor	Combined oxidative phosphorylation defect type 17
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369913	"" []	6151876	\N	\N	EFO	8	EFO	disease	Combined oxidative phosphorylation defect type 17
Orphanet:369920	\N	\N	"" []	Orphanet:369920	"" []	77063	\N	\N	EFO	0	EFO	Pontocerebellar hypoplasia type 9	Pontocerebellar hypoplasia type 9
Orphanet:98523	Orphanet:369920	\N	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	Orphanet:369920	"" []	220525	\N	\N	EFO	1	EFO	Non-syndromic pontocerebellar hypoplasia	Pontocerebellar hypoplasia type 9
Orphanet:269557	Orphanet:98523	\N	"" []	Orphanet:369920	"" []	576247	\N	\N	EFO	2	EFO	Genetic posterior fossa malformation	Pontocerebellar hypoplasia type 9
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:369920	"" []	1159370	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Pontocerebellar hypoplasia type 9
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:369920	"" []	2042706	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Pontocerebellar hypoplasia type 9
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:369920	"" []	3192954	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pontocerebellar hypoplasia type 9
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:369920	"" []	3192955	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pontocerebellar hypoplasia type 9
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369920	"" []	4399342	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 9
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369920	"" []	4399343	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369920	"" []	5416332	\N	\N	EFO	7	EFO	disease	Pontocerebellar hypoplasia type 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369920	"" []	6151877	\N	\N	EFO	8	EFO	disposition	Pontocerebellar hypoplasia type 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369920	"" []	6633833	\N	\N	EFO	9	EFO	material property	Pontocerebellar hypoplasia type 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369920	"" []	6926143	\N	\N	EFO	10	EFO	experimental factor	Pontocerebellar hypoplasia type 9
Orphanet:369929	\N	\N	"" []	Orphanet:369929	"" []	77064	\N	\N	EFO	0	EFO	Aldosterone-producing adenoma with seizures and neurological abnormalities	Aldosterone-producing adenoma with seizures and neurological abnormalities
Orphanet:371861	Orphanet:369929	\N	"" []	Orphanet:369929	"" []	220526	\N	\N	EFO	1	EFO	Genetic hyperaldosteronism	Aldosterone-producing adenoma with seizures and neurological abnormalities
Orphanet:183637	Orphanet:371861	\N	"" []	Orphanet:369929	"" []	576248	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Aldosterone-producing adenoma with seizures and neurological abnormalities
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:369929	"" []	1159371	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Aldosterone-producing adenoma with seizures and neurological abnormalities
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369929	"" []	2042707	\N	\N	EFO	4	EFO	genetic disorder	Aldosterone-producing adenoma with seizures and neurological abnormalities
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:369929	"" []	2042708	\N	\N	EFO	4	EFO	endocrine system disease	Aldosterone-producing adenoma with seizures and neurological abnormalities
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369929	"" []	3192956	\N	\N	EFO	5	EFO	disease	Aldosterone-producing adenoma with seizures and neurological abnormalities
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369929	"" []	3192957	\N	\N	EFO	5	EFO	disease	Aldosterone-producing adenoma with seizures and neurological abnormalities
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369929	"" []	4399344	\N	\N	EFO	6	EFO	disposition	Aldosterone-producing adenoma with seizures and neurological abnormalities
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369929	"" []	5416333	\N	\N	EFO	7	EFO	material property	Aldosterone-producing adenoma with seizures and neurological abnormalities
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369929	"" []	6151878	\N	\N	EFO	8	EFO	experimental factor	Aldosterone-producing adenoma with seizures and neurological abnormalities
Orphanet:369939	\N	\N	"" []	Orphanet:369939	"" []	77065	\N	\N	EFO	0	EFO	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Orphanet:183763	Orphanet:369939	\N	"" []	Orphanet:369939	"" []	220527	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Orphanet:370106	Orphanet:369939	\N	"" []	Orphanet:369939	"" []	220528	\N	\N	EFO	1	EFO	Rare disorder with dystonia and other neurologic or systemic manifestation	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Orphanet:90642	Orphanet:369939	\N	"" []	Orphanet:369939	"" []	220529	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:369939	"" []	576249	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Orphanet:391799	Orphanet:370106	\N	"" []	Orphanet:369939	"" []	576250	\N	\N	EFO	2	EFO	Rare genetic dystonia	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:369939	"" []	576251	\N	\N	EFO	2	EFO	Rare genetic deafness	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:369939	"" []	1159372	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:369939	"" []	1159373	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369939	"" []	1159374	\N	\N	EFO	3	EFO	genetic disorder	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:369939	"" []	1159375	\N	\N	EFO	3	EFO	auditory system disease	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369939	"" []	3192960	\N	\N	EFO	5	EFO	genetic disorder	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:369939	"" []	2042710	\N	\N	EFO	4	EFO	movement disorder	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:369939	"" []	2042711	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369939	"" []	4134025	\N	\N	EFO	6	EFO	disease	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:369939	"" []	2042713	\N	\N	EFO	4	EFO	sensory system disease	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:369939	"" []	3192959	\N	\N	EFO	5	EFO	nervous system disease	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369939	"" []	5060079	\N	\N	EFO	7	EFO	disposition	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:369939	"" []	3192962	\N	\N	EFO	5	EFO	nervous system disease	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369939	"" []	4399345	\N	\N	EFO	6	EFO	disease	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369939	"" []	5877475	\N	\N	EFO	8	EFO	material property	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369939	"" []	6470708	\N	\N	EFO	9	EFO	experimental factor	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Orphanet:369942	\N	\N	"" []	Orphanet:369942	"" []	77066	\N	\N	EFO	0	EFO	CADDS	CADDS
Orphanet:101940	Orphanet:369942	\N	"" []	Orphanet:369942	"" []	220530	\N	\N	EFO	1	EFO	Rare metabolic liver disease	CADDS
Orphanet:139009	Orphanet:369942	\N	"" []	Orphanet:369942	"" []	220531	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	CADDS
Orphanet:68356	Orphanet:369942	\N	"" []	Orphanet:369942	"" []	220532	\N	\N	EFO	1	EFO	Leukodystrophy	CADDS
Orphanet:68373	Orphanet:369942	\N	"" []	Orphanet:369942	"" []	220533	\N	\N	EFO	1	EFO	Peroxisomal disease	CADDS
Orphanet:68385	Orphanet:369942	\N	"" []	Orphanet:369942	"" []	220534	\N	\N	EFO	1	EFO	Neurometabolic disease	CADDS
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:369942	"" []	576252	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	CADDS
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:369942	"" []	576253	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	CADDS
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:369942	"" []	576254	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	CADDS
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:369942	"" []	576255	\N	\N	EFO	2	EFO	Inborn errors of metabolism	CADDS
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:369942	"" []	576256	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	CADDS
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:369942	"" []	1159376	\N	\N	EFO	3	EFO	digestive system disease	CADDS
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369942	"" []	1159377	\N	\N	EFO	3	EFO	genetic disorder	CADDS
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369942	"" []	1159378	\N	\N	EFO	3	EFO	genetic disorder	CADDS
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369942	"" []	1159379	\N	\N	EFO	3	EFO	genetic disorder	CADDS
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369942	"" []	1159380	\N	\N	EFO	3	EFO	genetic disorder	CADDS
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:369942	"" []	1159381	\N	\N	EFO	3	EFO	metabolic disease	CADDS
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369942	"" []	2042714	\N	\N	EFO	4	EFO	disease	CADDS
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369942	"" []	2042715	\N	\N	EFO	4	EFO	disease	CADDS
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369942	"" []	2042716	\N	\N	EFO	4	EFO	disease	CADDS
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369942	"" []	3192963	\N	\N	EFO	5	EFO	disposition	CADDS
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369942	"" []	4399347	\N	\N	EFO	6	EFO	material property	CADDS
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369942	"" []	5416335	\N	\N	EFO	7	EFO	experimental factor	CADDS
Orphanet:369950	\N	\N	"" []	Orphanet:369950	"" []	77067	\N	\N	EFO	0	EFO	Intellectual disability-seizures-macrocephaly-obesity syndrome	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:102283	Orphanet:369950	\N	"" []	Orphanet:369950	"" []	220535	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:183763	Orphanet:369950	\N	"" []	Orphanet:369950	"" []	220536	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:240371	Orphanet:369950	\N	"" []	Orphanet:369950	"" []	220537	\N	\N	EFO	1	EFO	Syndromic obesity	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:263708	Orphanet:369950	\N	"" []	Orphanet:369950	"" []	220538	\N	\N	EFO	1	EFO	Complex chromosomal rearrangement	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:369950	"" []	576257	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:369950	"" []	576258	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:369950	"" []	576259	\N	\N	EFO	2	EFO	Genetic obesity	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:98127	Orphanet:263708	\N	"" []	Orphanet:369950	"" []	576260	\N	\N	EFO	2	EFO	Autosomal anomaly	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:369950	"" []	1159382	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:369950	"" []	1159383	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:369950	"" []	1159384	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:369950	"" []	1159385	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:369950	"" []	1159386	\N	\N	EFO	3	EFO	Chromosomal anomaly	Intellectual disability-seizures-macrocephaly-obesity syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369950	"" []	3192966	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability-seizures-macrocephaly-obesity syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369950	"" []	2042718	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-seizures-macrocephaly-obesity syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369950	"" []	2042719	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-seizures-macrocephaly-obesity syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:369950	"" []	2042720	\N	\N	EFO	4	EFO	endocrine system disease	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:369950	"" []	2042721	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-seizures-macrocephaly-obesity syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369950	"" []	2042722	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-seizures-macrocephaly-obesity syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369950	"" []	4134027	\N	\N	EFO	6	EFO	disease	Intellectual disability-seizures-macrocephaly-obesity syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369950	"" []	3192965	\N	\N	EFO	5	EFO	disease	Intellectual disability-seizures-macrocephaly-obesity syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369950	"" []	5182887	\N	\N	EFO	7	EFO	disposition	Intellectual disability-seizures-macrocephaly-obesity syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369950	"" []	5998257	\N	\N	EFO	8	EFO	material property	Intellectual disability-seizures-macrocephaly-obesity syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369950	"" []	6551487	\N	\N	EFO	9	EFO	experimental factor	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:369955	\N	\N	"" []	Orphanet:369955	"" []	77068	\N	\N	EFO	0	EFO	Methylmalonic acidemia with homocystinuria, type cblJ	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:26	Orphanet:369955	\N	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	Orphanet:369955	"" []	220539	\N	\N	EFO	1	EFO	Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:79163	Orphanet:26	\N	"" []	Orphanet:369955	"" []	576261	\N	\N	EFO	2	EFO	Classic organic aciduria	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:79171	Orphanet:26	\N	"" []	Orphanet:369955	"" []	576262	\N	\N	EFO	2	EFO	Disorder of cobalamin metabolism and transport	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:98396	Orphanet:26	\N	"" []	Orphanet:369955	"" []	576263	\N	\N	EFO	2	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:369955	"" []	1159387	\N	\N	EFO	3	EFO	Organic aciduria	Methylmalonic acidemia with homocystinuria, type cblJ
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:369955	"" []	1159388	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:369955	"" []	1159389	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:369955	"" []	1159390	\N	\N	EFO	3	EFO	Constitutional deficiency anemia	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:369955	"" []	2042723	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Methylmalonic acidemia with homocystinuria, type cblJ
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:369955	"" []	2042724	\N	\N	EFO	4	EFO	metabolic disease	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:369955	"" []	2042725	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:369955	"" []	2042726	\N	\N	EFO	4	EFO	Rare constitutional anemia	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:369955	"" []	3192967	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylmalonic acidemia with homocystinuria, type cblJ
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369955	"" []	5416338	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:369955	"" []	3192969	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:369955	"" []	3192970	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Methylmalonic acidemia with homocystinuria, type cblJ
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369955	"" []	4399349	\N	\N	EFO	6	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria, type cblJ
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:369955	"" []	4399350	\N	\N	EFO	6	EFO	metabolic disease	Methylmalonic acidemia with homocystinuria, type cblJ
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369955	"" []	5877476	\N	\N	EFO	8	EFO	disposition	Methylmalonic acidemia with homocystinuria, type cblJ
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369955	"" []	4399352	\N	\N	EFO	6	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria, type cblJ
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:369955	"" []	4399353	\N	\N	EFO	6	EFO	hematological system disease	Methylmalonic acidemia with homocystinuria, type cblJ
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369955	"" []	5416337	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblJ
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369955	"" []	6470709	\N	\N	EFO	9	EFO	material property	Methylmalonic acidemia with homocystinuria, type cblJ
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369955	"" []	5416340	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblJ
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369955	"" []	6848675	\N	\N	EFO	10	EFO	experimental factor	Methylmalonic acidemia with homocystinuria, type cblJ
Orphanet:369962	\N	\N	"" []	Orphanet:369962	"" []	77069	\N	\N	EFO	0	EFO	Methylmalonic acidemia with homocystinuria, type cblX	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:26	Orphanet:369962	\N	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	Orphanet:369962	"" []	220540	\N	\N	EFO	1	EFO	Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:79163	Orphanet:26	\N	"" []	Orphanet:369962	"" []	576264	\N	\N	EFO	2	EFO	Classic organic aciduria	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:79171	Orphanet:26	\N	"" []	Orphanet:369962	"" []	576265	\N	\N	EFO	2	EFO	Disorder of cobalamin metabolism and transport	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:98396	Orphanet:26	\N	"" []	Orphanet:369962	"" []	576266	\N	\N	EFO	2	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:369962	"" []	1159391	\N	\N	EFO	3	EFO	Organic aciduria	Methylmalonic acidemia with homocystinuria, type cblX
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:369962	"" []	1159392	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:369962	"" []	1159393	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:369962	"" []	1159394	\N	\N	EFO	3	EFO	Constitutional deficiency anemia	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:369962	"" []	2042727	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Methylmalonic acidemia with homocystinuria, type cblX
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:369962	"" []	2042728	\N	\N	EFO	4	EFO	metabolic disease	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:369962	"" []	2042729	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:369962	"" []	2042730	\N	\N	EFO	4	EFO	Rare constitutional anemia	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:369962	"" []	3192971	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylmalonic acidemia with homocystinuria, type cblX
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369962	"" []	5416342	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:369962	"" []	3192973	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:369962	"" []	3192974	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Methylmalonic acidemia with homocystinuria, type cblX
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369962	"" []	4399354	\N	\N	EFO	6	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria, type cblX
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:369962	"" []	4399355	\N	\N	EFO	6	EFO	metabolic disease	Methylmalonic acidemia with homocystinuria, type cblX
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369962	"" []	5877477	\N	\N	EFO	8	EFO	disposition	Methylmalonic acidemia with homocystinuria, type cblX
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369962	"" []	4399357	\N	\N	EFO	6	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria, type cblX
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:369962	"" []	4399358	\N	\N	EFO	6	EFO	hematological system disease	Methylmalonic acidemia with homocystinuria, type cblX
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369962	"" []	5416341	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblX
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369962	"" []	6470710	\N	\N	EFO	9	EFO	material property	Methylmalonic acidemia with homocystinuria, type cblX
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369962	"" []	5416344	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblX
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369962	"" []	6848676	\N	\N	EFO	10	EFO	experimental factor	Methylmalonic acidemia with homocystinuria, type cblX
Orphanet:369970	\N	\N	"" []	Orphanet:369970	"" []	77070	\N	\N	EFO	0	EFO	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Orphanet:183557	Orphanet:369970	\N	"" []	Orphanet:369970	"" []	220541	\N	\N	EFO	1	EFO	Genetic developmental defect of the eye	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Orphanet:71862	Orphanet:369970	\N	"" []	Orphanet:369970	"" []	220542	\N	\N	EFO	1	EFO	Retinal dystrophy	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:369970	"" []	576267	\N	\N	EFO	2	EFO	Rare genetic eye disease	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:369970	"" []	576268	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:369970	"" []	576269	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369970	"" []	2042733	\N	\N	EFO	4	EFO	genetic disorder	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:369970	"" []	2042734	\N	\N	EFO	4	EFO	eye disease	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369970	"" []	1159397	\N	\N	EFO	3	EFO	genetic disorder	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:369970	"" []	1159398	\N	\N	EFO	3	EFO	Rare genetic eye disease	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369970	"" []	3000346	\N	\N	EFO	5	EFO	disease	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369970	"" []	3000347	\N	\N	EFO	5	EFO	disease	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369970	"" []	4134028	\N	\N	EFO	6	EFO	disposition	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369970	"" []	5182888	\N	\N	EFO	7	EFO	material property	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369970	"" []	5998258	\N	\N	EFO	8	EFO	experimental factor	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Orphanet:369979	\N	\N	"" []	Orphanet:369979	"" []	77071	\N	\N	EFO	0	EFO	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Orphanet:294959	Orphanet:369979	\N	"" []	Orphanet:369979	"" []	220543	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:369979	"" []	576270	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:369979	"" []	576271	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:369979	"" []	1159399	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:369979	"" []	1159400	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:369979	"" []	2042735	\N	\N	EFO	4	EFO	Rare genetic bone disease	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:369979	"" []	2042736	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:369979	"" []	2042737	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369979	"" []	3192976	\N	\N	EFO	5	EFO	genetic disorder	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:369979	"" []	3192977	\N	\N	EFO	5	EFO	bone disease	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:369979	"" []	3192978	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369979	"" []	4399362	\N	\N	EFO	6	EFO	genetic disorder	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369979	"" []	5182889	\N	\N	EFO	7	EFO	disease	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:369979	"" []	4399361	\N	\N	EFO	6	EFO	skeletal system disease	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369979	"" []	5998259	\N	\N	EFO	8	EFO	disposition	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369979	"" []	5416347	\N	\N	EFO	7	EFO	disease	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369979	"" []	6551488	\N	\N	EFO	9	EFO	material property	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369979	"" []	6889452	\N	\N	EFO	10	EFO	experimental factor	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Orphanet:369992	\N	\N	"" []	Orphanet:369992	"" []	77072	\N	\N	EFO	0	EFO	Severe dermatitis-multiple allergies-metabolic wasting syndrome	Severe dermatitis-multiple allergies-metabolic wasting syndrome
Orphanet:331217	Orphanet:369992	\N	"" []	Orphanet:369992	"" []	220544	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Severe dermatitis-multiple allergies-metabolic wasting syndrome
Orphanet:79360	Orphanet:369992	\N	"" []	Orphanet:369992	"" []	220545	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Severe dermatitis-multiple allergies-metabolic wasting syndrome
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:369992	"" []	576272	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Severe dermatitis-multiple allergies-metabolic wasting syndrome
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:369992	"" []	576273	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Severe dermatitis-multiple allergies-metabolic wasting syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:369992	"" []	1159401	\N	\N	EFO	3	EFO	Primary immunodeficiency	Severe dermatitis-multiple allergies-metabolic wasting syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:369992	"" []	1159402	\N	\N	EFO	3	EFO	Rare genetic skin disease	Severe dermatitis-multiple allergies-metabolic wasting syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:369992	"" []	2042738	\N	\N	EFO	4	EFO	Rare genetic immune disease	Severe dermatitis-multiple allergies-metabolic wasting syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369992	"" []	2042739	\N	\N	EFO	4	EFO	genetic disorder	Severe dermatitis-multiple allergies-metabolic wasting syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:369992	"" []	2042740	\N	\N	EFO	4	EFO	skin disease	Severe dermatitis-multiple allergies-metabolic wasting syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369992	"" []	3192980	\N	\N	EFO	5	EFO	genetic disorder	Severe dermatitis-multiple allergies-metabolic wasting syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:369992	"" []	3192981	\N	\N	EFO	5	EFO	immune system disease	Severe dermatitis-multiple allergies-metabolic wasting syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369992	"" []	4399363	\N	\N	EFO	6	EFO	disease	Severe dermatitis-multiple allergies-metabolic wasting syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369992	"" []	3192983	\N	\N	EFO	5	EFO	disease	Severe dermatitis-multiple allergies-metabolic wasting syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369992	"" []	4399364	\N	\N	EFO	6	EFO	disease	Severe dermatitis-multiple allergies-metabolic wasting syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369992	"" []	5182890	\N	\N	EFO	7	EFO	disposition	Severe dermatitis-multiple allergies-metabolic wasting syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369992	"" []	5998260	\N	\N	EFO	8	EFO	material property	Severe dermatitis-multiple allergies-metabolic wasting syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369992	"" []	6551489	\N	\N	EFO	9	EFO	experimental factor	Severe dermatitis-multiple allergies-metabolic wasting syndrome
Orphanet:369999	\N	\N	"" []	Orphanet:369999	"" []	77073	\N	\N	EFO	0	EFO	Diffuse palmoplantar keratoderma with painful fissures	Diffuse palmoplantar keratoderma with painful fissures
Orphanet:98349	Orphanet:369999	\N	"" []	Orphanet:369999	"" []	220546	\N	\N	EFO	1	EFO	Autosomal dominant isolated diffuse palmoplantar keratoderma	Diffuse palmoplantar keratoderma with painful fissures
Orphanet:307148	Orphanet:98349	\N	"" []	Orphanet:369999	"" []	576274	\N	\N	EFO	2	EFO	Isolated diffuse palmoplantar keratoderma	Diffuse palmoplantar keratoderma with painful fissures
Orphanet:307141	Orphanet:307148	\N	"" []	Orphanet:369999	"" []	1159403	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Diffuse palmoplantar keratoderma with painful fissures
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:369999	"" []	2042741	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Diffuse palmoplantar keratoderma with painful fissures
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:369999	"" []	3192984	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Diffuse palmoplantar keratoderma with painful fissures
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:369999	"" []	4399366	\N	\N	EFO	6	EFO	Rare genetic skin disease	Diffuse palmoplantar keratoderma with painful fissures
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:369999	"" []	5416349	\N	\N	EFO	7	EFO	genetic disorder	Diffuse palmoplantar keratoderma with painful fissures
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:369999	"" []	5416350	\N	\N	EFO	7	EFO	skin disease	Diffuse palmoplantar keratoderma with painful fissures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369999	"" []	6151884	\N	\N	EFO	8	EFO	disease	Diffuse palmoplantar keratoderma with painful fissures
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:369999	"" []	6151885	\N	\N	EFO	8	EFO	disease	Diffuse palmoplantar keratoderma with painful fissures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:369999	"" []	6633835	\N	\N	EFO	9	EFO	disposition	Diffuse palmoplantar keratoderma with painful fissures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:369999	"" []	6926144	\N	\N	EFO	10	EFO	material property	Diffuse palmoplantar keratoderma with painful fissures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:369999	"" []	7099291	\N	\N	EFO	11	EFO	experimental factor	Diffuse palmoplantar keratoderma with painful fissures
Orphanet:37	\N	\N	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	77074	\N	\N	EFO	0	EFO	Acrodermatitis enteropathica	Acrodermatitis enteropathica
Orphanet:139027	Orphanet:37	\N	"" []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	220547	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Acrodermatitis enteropathica
Orphanet:309845	Orphanet:37	\N	"" []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	220548	\N	\N	EFO	1	EFO	Disorder of zinc metabolism	Acrodermatitis enteropathica
Orphanet:363306	Orphanet:37	\N	"" []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	220549	\N	\N	EFO	1	EFO	Genetic intestinal disease due to fat malabsorption	Acrodermatitis enteropathica
Orphanet:79387	Orphanet:37	\N	"" []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	220550	\N	\N	EFO	1	EFO	Metabolic disease with skin involvement	Acrodermatitis enteropathica
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	576275	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Acrodermatitis enteropathica
Orphanet:309836	Orphanet:309845	\N	"" []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	576276	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Acrodermatitis enteropathica
Orphanet:165655	Orphanet:363306	\N	"" []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	576277	\N	\N	EFO	2	EFO	Genetic intestinal disease	Acrodermatitis enteropathica
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	576278	\N	\N	EFO	2	EFO	Rare genetic skin disease	Acrodermatitis enteropathica
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	1159404	\N	\N	EFO	3	EFO	genetic disorder	Acrodermatitis enteropathica
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	1159405	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Acrodermatitis enteropathica
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	1159406	\N	\N	EFO	3	EFO	digestive system disease	Acrodermatitis enteropathica
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	1159407	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Acrodermatitis enteropathica
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	1159408	\N	\N	EFO	3	EFO	genetic disorder	Acrodermatitis enteropathica
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	1159409	\N	\N	EFO	3	EFO	skin disease	Acrodermatitis enteropathica
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	4399368	\N	\N	EFO	6	EFO	disease	Acrodermatitis enteropathica
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	2042743	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Acrodermatitis enteropathica
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	2042744	\N	\N	EFO	4	EFO	disease	Acrodermatitis enteropathica
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	2042745	\N	\N	EFO	4	EFO	genetic disorder	Acrodermatitis enteropathica
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	2042746	\N	\N	EFO	4	EFO	disease	Acrodermatitis enteropathica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	5060080	\N	\N	EFO	7	EFO	disposition	Acrodermatitis enteropathica
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	3192986	\N	\N	EFO	5	EFO	genetic disorder	Acrodermatitis enteropathica
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	3192987	\N	\N	EFO	5	EFO	metabolic disease	Acrodermatitis enteropathica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	5877478	\N	\N	EFO	8	EFO	material property	Acrodermatitis enteropathica
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	4399369	\N	\N	EFO	6	EFO	disease	Acrodermatitis enteropathica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:37	"Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." []	6470711	\N	\N	EFO	9	EFO	experimental factor	Acrodermatitis enteropathica
Orphanet:370	\N	\N	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	Orphanet:370	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	77075	\N	\N	EFO	0	EFO	Glycogen storage disease due to phosphorylase kinase deficiency	Glycogen storage disease due to phosphorylase kinase deficiency
Orphanet:79201	Orphanet:370	\N	"" []	Orphanet:370	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	220551	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to phosphorylase kinase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:370	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	576279	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to phosphorylase kinase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:370	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	1159410	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to phosphorylase kinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	2042747	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to phosphorylase kinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	2042748	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to phosphorylase kinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	3192989	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to phosphorylase kinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	3192990	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to phosphorylase kinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	4399370	\N	\N	EFO	6	EFO	disposition	Glycogen storage disease due to phosphorylase kinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	5416352	\N	\N	EFO	7	EFO	material property	Glycogen storage disease due to phosphorylase kinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	6151886	\N	\N	EFO	8	EFO	experimental factor	Glycogen storage disease due to phosphorylase kinase deficiency
Orphanet:370002	\N	\N	"" []	Orphanet:370002	"" []	77076	\N	\N	EFO	0	EFO	Focal palmoplantar keratoderma with joint keratoses	Focal palmoplantar keratoderma with joint keratoses
Orphanet:307846	Orphanet:370002	\N	"" []	Orphanet:370002	"" []	220552	\N	\N	EFO	1	EFO	Isolated focal palmoplantar keratoderma	Focal palmoplantar keratoderma with joint keratoses
Orphanet:307837	Orphanet:307846	\N	"" []	Orphanet:370002	"" []	576280	\N	\N	EFO	2	EFO	Focal palmoplantar keratoderma	Focal palmoplantar keratoderma with joint keratoses
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:370002	"" []	1159411	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Focal palmoplantar keratoderma with joint keratoses
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:370002	"" []	2042749	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Focal palmoplantar keratoderma with joint keratoses
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:370002	"" []	3192991	\N	\N	EFO	5	EFO	Rare genetic skin disease	Focal palmoplantar keratoderma with joint keratoses
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370002	"" []	4399371	\N	\N	EFO	6	EFO	genetic disorder	Focal palmoplantar keratoderma with joint keratoses
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:370002	"" []	4399372	\N	\N	EFO	6	EFO	skin disease	Focal palmoplantar keratoderma with joint keratoses
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370002	"" []	5416353	\N	\N	EFO	7	EFO	disease	Focal palmoplantar keratoderma with joint keratoses
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370002	"" []	5416354	\N	\N	EFO	7	EFO	disease	Focal palmoplantar keratoderma with joint keratoses
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370002	"" []	6151887	\N	\N	EFO	8	EFO	disposition	Focal palmoplantar keratoderma with joint keratoses
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370002	"" []	6633836	\N	\N	EFO	9	EFO	material property	Focal palmoplantar keratoderma with joint keratoses
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370002	"" []	6926145	\N	\N	EFO	10	EFO	experimental factor	Focal palmoplantar keratoderma with joint keratoses
Orphanet:370006	\N	\N	"" []	Orphanet:370006	"" []	77077	\N	\N	EFO	0	EFO	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:269528	Orphanet:370006	\N	"" []	Orphanet:370006	"" []	220553	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:93547	Orphanet:370006	\N	"" []	Orphanet:370006	"" []	220554	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:95495	Orphanet:370006	\N	"" []	Orphanet:370006	"" []	220555	\N	\N	EFO	1	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:370006	"" []	576281	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:370006	"" []	576282	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:370006	"" []	576283	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:370006	"" []	1159412	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:370006	"" []	1159413	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:370006	"" []	1159414	\N	\N	EFO	3	EFO	Rare genetic renal disease	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:370006	"" []	1159415	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:370006	"" []	2042750	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:370006	"" []	2042751	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370006	"" []	3192992	\N	\N	EFO	5	EFO	genetic disorder	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370006	"" []	2042753	\N	\N	EFO	4	EFO	genetic disorder	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:370006	"" []	2042754	\N	\N	EFO	4	EFO	Pituitary deficiency	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370006	"" []	3192993	\N	\N	EFO	5	EFO	genetic disorder	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370006	"" []	6151889	\N	\N	EFO	8	EFO	disease	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:370006	"" []	3192995	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370006	"" []	6410216	\N	\N	EFO	9	EFO	disposition	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:370006	"" []	4399374	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370006	"" []	6808048	\N	\N	EFO	10	EFO	material property	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370006	"" []	5416356	\N	\N	EFO	7	EFO	genetic disorder	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:370006	"" []	5416357	\N	\N	EFO	7	EFO	endocrine system disease	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370006	"" []	7048746	\N	\N	EFO	11	EFO	experimental factor	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370006	"" []	6151890	\N	\N	EFO	8	EFO	disease	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Orphanet:370010	\N	\N	"" []	Orphanet:370010	"" []	77078	\N	\N	EFO	0	EFO	Intellectual disability-facial dysmorphism-hand anomalies syndrome	Intellectual disability-facial dysmorphism-hand anomalies syndrome
Orphanet:102283	Orphanet:370010	\N	"" []	Orphanet:370010	"" []	220556	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability-facial dysmorphism-hand anomalies syndrome
Orphanet:183763	Orphanet:370010	\N	"" []	Orphanet:370010	"" []	220557	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability-facial dysmorphism-hand anomalies syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:370010	"" []	576284	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability-facial dysmorphism-hand anomalies syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:370010	"" []	576285	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability-facial dysmorphism-hand anomalies syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:370010	"" []	1159416	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-facial dysmorphism-hand anomalies syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:370010	"" []	1159417	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability-facial dysmorphism-hand anomalies syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370010	"" []	2042755	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-facial dysmorphism-hand anomalies syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370010	"" []	2042756	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-facial dysmorphism-hand anomalies syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370010	"" []	3192996	\N	\N	EFO	5	EFO	disease	Intellectual disability-facial dysmorphism-hand anomalies syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370010	"" []	4399375	\N	\N	EFO	6	EFO	disposition	Intellectual disability-facial dysmorphism-hand anomalies syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370010	"" []	5416358	\N	\N	EFO	7	EFO	material property	Intellectual disability-facial dysmorphism-hand anomalies syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370010	"" []	6151891	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability-facial dysmorphism-hand anomalies syndrome
Orphanet:370015	\N	\N	"" []	Orphanet:370015	"" []	77079	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia, Isidor type	Spondyloepimetaphyseal dysplasia, Isidor type
Orphanet:253	Orphanet:370015	\N	"" []	Orphanet:370015	"" []	220558	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia, Isidor type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:370015	"" []	576286	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia, Isidor type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:370015	"" []	1159418	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia, Isidor type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:370015	"" []	1159419	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia, Isidor type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370015	"" []	2042757	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Isidor type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:370015	"" []	2042758	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia, Isidor type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:370015	"" []	2042759	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia, Isidor type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370015	"" []	4399378	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Isidor type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:370015	"" []	3192998	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia, Isidor type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370015	"" []	3192999	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Isidor type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370015	"" []	5182893	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia, Isidor type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370015	"" []	4399377	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Isidor type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370015	"" []	5998263	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia, Isidor type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370015	"" []	6551491	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia, Isidor type
Orphanet:370019	\N	\N	"" []	Orphanet:370019	"" []	77080	\N	\N	EFO	0	EFO	Spondylometaphyseal dysplasia, Czarny-Ratajczak type	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
Orphanet:254	Orphanet:370019	\N	"" []	Orphanet:370019	"" []	220559	\N	\N	EFO	1	EFO	Spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:370019	"" []	576287	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:370019	"" []	1159420	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:370019	"" []	1159421	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370019	"" []	2042760	\N	\N	EFO	4	EFO	genetic disorder	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:370019	"" []	2042761	\N	\N	EFO	4	EFO	bone disease	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:370019	"" []	2042762	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370019	"" []	4399381	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:370019	"" []	3193001	\N	\N	EFO	5	EFO	skeletal system disease	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370019	"" []	3193002	\N	\N	EFO	5	EFO	genetic disorder	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370019	"" []	5182894	\N	\N	EFO	7	EFO	disposition	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370019	"" []	4399380	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370019	"" []	5998264	\N	\N	EFO	8	EFO	material property	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370019	"" []	6551492	\N	\N	EFO	9	EFO	experimental factor	Spondylometaphyseal dysplasia, Czarny-Ratajczak type
Orphanet:370022	\N	\N	"" []	Orphanet:370022	"" []	77081	\N	\N	EFO	0	EFO	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Orphanet:183763	Orphanet:370022	\N	"" []	Orphanet:370022	"" []	220560	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Orphanet:269567	Orphanet:370022	\N	"" []	Orphanet:370022	"" []	220561	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Orphanet:98688	Orphanet:370022	\N	"" []	Orphanet:370022	"" []	220562	\N	\N	EFO	1	EFO	Oculomotor apraxia or related oculomotor disease	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:370022	"" []	576288	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:370022	"" []	576289	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:370022	"" []	576290	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:370022	"" []	1159422	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:370022	"" []	1159423	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:370022	"" []	1159424	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370022	"" []	3193005	\N	\N	EFO	5	EFO	genetic disorder	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:370022	"" []	2042764	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:370022	"" []	2042765	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370022	"" []	2042766	\N	\N	EFO	4	EFO	genetic disorder	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:370022	"" []	2042767	\N	\N	EFO	4	EFO	eye disease	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370022	"" []	4134031	\N	\N	EFO	6	EFO	disease	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370022	"" []	3193004	\N	\N	EFO	5	EFO	genetic disorder	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370022	"" []	3193006	\N	\N	EFO	5	EFO	disease	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370022	"" []	5182895	\N	\N	EFO	7	EFO	disposition	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370022	"" []	5998265	\N	\N	EFO	8	EFO	material property	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370022	"" []	6551493	\N	\N	EFO	9	EFO	experimental factor	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Orphanet:370034	\N	\N	"" []	Orphanet:370034	"" []	77082	\N	\N	EFO	0	EFO	Familial syringomyelia	Familial syringomyelia
Orphanet:183515	Orphanet:370034	\N	"" []	Orphanet:370034	"" []	220563	\N	\N	EFO	1	EFO	Rare genetic medullar disease	Familial syringomyelia
Orphanet:99856	Orphanet:370034	\N	"" []	Orphanet:370034	"" []	220564	\N	\N	EFO	1	EFO	Primary syringomyelia	Familial syringomyelia
Orphanet:71859	Orphanet:183515	\N	"" []	Orphanet:370034	"" []	576291	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Familial syringomyelia
Orphanet:268843	Orphanet:99856	\N	"" []	Orphanet:370034	"" []	576292	\N	\N	EFO	2	EFO	Malformation of the neurenteric canal, spinal cord and column	Familial syringomyelia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370034	"" []	5416364	\N	\N	EFO	7	EFO	genetic disorder	Familial syringomyelia
Orphanet:3388	Orphanet:268843	\N	"" []	Orphanet:370034	"" []	1159426	\N	\N	EFO	3	EFO	Neural tube defect	Familial syringomyelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370034	"" []	5801866	\N	\N	EFO	8	EFO	disease	Familial syringomyelia
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:370034	"" []	2042769	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Familial syringomyelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370034	"" []	6378945	\N	\N	EFO	9	EFO	disposition	Familial syringomyelia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:370034	"" []	3193008	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Familial syringomyelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370034	"" []	6778772	\N	\N	EFO	10	EFO	material property	Familial syringomyelia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:370034	"" []	4399384	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Familial syringomyelia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:370034	"" []	4399385	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Familial syringomyelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370034	"" []	7029969	\N	\N	EFO	11	EFO	experimental factor	Familial syringomyelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370034	"" []	5416363	\N	\N	EFO	7	EFO	genetic disorder	Familial syringomyelia
Orphanet:370079	\N	\N	"" []	Orphanet:370079	"" []	77083	\N	\N	EFO	0	EFO	Proximal 16p11.2 microduplication syndrome	Proximal 16p11.2 microduplication syndrome
Orphanet:183763	Orphanet:370079	\N	"" []	Orphanet:370079	"" []	220565	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Proximal 16p11.2 microduplication syndrome
Orphanet:262794	Orphanet:370079	\N	"" []	Orphanet:370079	"" []	220566	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 16	Proximal 16p11.2 microduplication syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:370079	"" []	576293	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Proximal 16p11.2 microduplication syndrome
Orphanet:262672	Orphanet:262794	\N	"" []	Orphanet:370079	"" []	576294	\N	\N	EFO	2	EFO	Partial duplication of chromosome 16	Proximal 16p11.2 microduplication syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:370079	"" []	1159427	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Proximal 16p11.2 microduplication syndrome
Orphanet:98132	Orphanet:262672	\N	"" []	Orphanet:370079	"" []	1159428	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Proximal 16p11.2 microduplication syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370079	"" []	2042770	\N	\N	EFO	4	EFO	genetic disorder	Proximal 16p11.2 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:370079	"" []	2042771	\N	\N	EFO	4	EFO	Autosomal trisomy	Proximal 16p11.2 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370079	"" []	6151896	\N	\N	EFO	8	EFO	disease	Proximal 16p11.2 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:370079	"" []	3193010	\N	\N	EFO	5	EFO	Autosomal anomaly	Proximal 16p11.2 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370079	"" []	6410217	\N	\N	EFO	9	EFO	disposition	Proximal 16p11.2 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:370079	"" []	4399387	\N	\N	EFO	6	EFO	Chromosomal anomaly	Proximal 16p11.2 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370079	"" []	6808049	\N	\N	EFO	10	EFO	material property	Proximal 16p11.2 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370079	"" []	5416366	\N	\N	EFO	7	EFO	genetic disorder	Proximal 16p11.2 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370079	"" []	7048747	\N	\N	EFO	11	EFO	experimental factor	Proximal 16p11.2 microduplication syndrome
Orphanet:370088	\N	\N	"" []	Orphanet:370088	"" []	77084	\N	\N	EFO	0	EFO	Acute infantile liver failure-multisystemic involvement syndrome	Acute infantile liver failure-multisystemic involvement syndrome
Orphanet:156604	Orphanet:370088	\N	"" []	Orphanet:370088	"" []	220567	\N	\N	EFO	1	EFO	Genetic parenchymatous liver disease	Acute infantile liver failure-multisystemic involvement syndrome
Orphanet:156601	Orphanet:156604	\N	"" []	Orphanet:370088	"" []	576295	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Acute infantile liver failure-multisystemic involvement syndrome
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:370088	"" []	1159429	\N	\N	EFO	3	EFO	digestive system disease	Acute infantile liver failure-multisystemic involvement syndrome
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370088	"" []	1159430	\N	\N	EFO	3	EFO	genetic disorder	Acute infantile liver failure-multisystemic involvement syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370088	"" []	2042772	\N	\N	EFO	4	EFO	disease	Acute infantile liver failure-multisystemic involvement syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370088	"" []	2042773	\N	\N	EFO	4	EFO	disease	Acute infantile liver failure-multisystemic involvement syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370088	"" []	3193011	\N	\N	EFO	5	EFO	disposition	Acute infantile liver failure-multisystemic involvement syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370088	"" []	4399388	\N	\N	EFO	6	EFO	material property	Acute infantile liver failure-multisystemic involvement syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370088	"" []	5416367	\N	\N	EFO	7	EFO	experimental factor	Acute infantile liver failure-multisystemic involvement syndrome
Orphanet:370091	\N	\N	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	77085	\N	\N	EFO	0	EFO	Oculocutaneous albinism type 5	Oculocutaneous albinism type 5
Orphanet:55	Orphanet:370091	\N	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	220568	\N	\N	EFO	1	EFO	Oculocutaneous albinism	Oculocutaneous albinism type 5
Orphanet:183469	Orphanet:55	\N	"" []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	576296	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Oculocutaneous albinism type 5
Orphanet:352728	Orphanet:55	\N	"" []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	576297	\N	\N	EFO	2	EFO	Disorder of melanin metabolism	Oculocutaneous albinism type 5
Orphanet:98706	Orphanet:55	\N	"" []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	576298	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Oculocutaneous albinism type 5
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	1159431	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Oculocutaneous albinism type 5
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	1159432	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Oculocutaneous albinism type 5
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	1159433	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Oculocutaneous albinism type 5
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	2042774	\N	\N	EFO	4	EFO	Rare genetic skin disease	Oculocutaneous albinism type 5
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	2042775	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Oculocutaneous albinism type 5
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	2042776	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Oculocutaneous albinism type 5
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	3193012	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 5
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	3193013	\N	\N	EFO	5	EFO	skin disease	Oculocutaneous albinism type 5
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	3193014	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 5
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	3193015	\N	\N	EFO	5	EFO	metabolic disease	Oculocutaneous albinism type 5
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	3193016	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oculocutaneous albinism type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	5416369	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 5
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	4399390	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 5
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	4399391	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 5
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	4399392	\N	\N	EFO	6	EFO	genetic disorder	Oculocutaneous albinism type 5
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	4399393	\N	\N	EFO	6	EFO	eye disease	Oculocutaneous albinism type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	5998266	\N	\N	EFO	8	EFO	disposition	Oculocutaneous albinism type 5
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	5416370	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	6551494	\N	\N	EFO	9	EFO	material property	Oculocutaneous albinism type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370091	"Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." []	6889453	\N	\N	EFO	10	EFO	experimental factor	Oculocutaneous albinism type 5
Orphanet:370097	\N	\N	" gene (15q21.1)." []	Orphanet:370097	" gene (15q21.1)." []	77086	\N	\N	EFO	0	EFO	Oculocutaneous albinism type 6	Oculocutaneous albinism type 6
Orphanet:55	Orphanet:370097	\N	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	Orphanet:370097	" gene (15q21.1)." []	220569	\N	\N	EFO	1	EFO	Oculocutaneous albinism	Oculocutaneous albinism type 6
Orphanet:183469	Orphanet:55	\N	"" []	Orphanet:370097	" gene (15q21.1)." []	576299	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Oculocutaneous albinism type 6
Orphanet:352728	Orphanet:55	\N	"" []	Orphanet:370097	" gene (15q21.1)." []	576300	\N	\N	EFO	2	EFO	Disorder of melanin metabolism	Oculocutaneous albinism type 6
Orphanet:98706	Orphanet:55	\N	"" []	Orphanet:370097	" gene (15q21.1)." []	576301	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Oculocutaneous albinism type 6
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:370097	" gene (15q21.1)." []	1159434	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Oculocutaneous albinism type 6
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:370097	" gene (15q21.1)." []	1159435	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Oculocutaneous albinism type 6
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:370097	" gene (15q21.1)." []	1159436	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Oculocutaneous albinism type 6
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:370097	" gene (15q21.1)." []	2042777	\N	\N	EFO	4	EFO	Rare genetic skin disease	Oculocutaneous albinism type 6
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:370097	" gene (15q21.1)." []	2042778	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Oculocutaneous albinism type 6
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:370097	" gene (15q21.1)." []	2042779	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Oculocutaneous albinism type 6
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370097	" gene (15q21.1)." []	3193017	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 6
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:370097	" gene (15q21.1)." []	3193018	\N	\N	EFO	5	EFO	skin disease	Oculocutaneous albinism type 6
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370097	" gene (15q21.1)." []	3193019	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 6
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370097	" gene (15q21.1)." []	3193020	\N	\N	EFO	5	EFO	metabolic disease	Oculocutaneous albinism type 6
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:370097	" gene (15q21.1)." []	3193021	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oculocutaneous albinism type 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370097	" gene (15q21.1)." []	5416372	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 6
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370097	" gene (15q21.1)." []	4399395	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 6
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370097	" gene (15q21.1)." []	4399396	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 6
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370097	" gene (15q21.1)." []	4399397	\N	\N	EFO	6	EFO	genetic disorder	Oculocutaneous albinism type 6
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:370097	" gene (15q21.1)." []	4399398	\N	\N	EFO	6	EFO	eye disease	Oculocutaneous albinism type 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370097	" gene (15q21.1)." []	5998267	\N	\N	EFO	8	EFO	disposition	Oculocutaneous albinism type 6
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370097	" gene (15q21.1)." []	5416373	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370097	" gene (15q21.1)." []	6551495	\N	\N	EFO	9	EFO	material property	Oculocutaneous albinism type 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370097	" gene (15q21.1)." []	6889454	\N	\N	EFO	10	EFO	experimental factor	Oculocutaneous albinism type 6
Orphanet:370103	\N	\N	"" []	Orphanet:370103	"" []	77087	\N	\N	EFO	0	EFO	Primary dystonia, DYT17 type	Primary dystonia, DYT17 type
Orphanet:1866	Orphanet:370103	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:370103	"" []	220570	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Primary dystonia, DYT17 type
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:370103	"" []	576302	\N	\N	EFO	2	EFO	Isolated dystonia	Primary dystonia, DYT17 type
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:370103	"" []	1159437	\N	\N	EFO	3	EFO	Rare genetic dystonia	Primary dystonia, DYT17 type
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:370103	"" []	2042780	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Primary dystonia, DYT17 type
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:370103	"" []	3193022	\N	\N	EFO	5	EFO	movement disorder	Primary dystonia, DYT17 type
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:370103	"" []	3193023	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Primary dystonia, DYT17 type
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:370103	"" []	4399399	\N	\N	EFO	6	EFO	nervous system disease	Primary dystonia, DYT17 type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370103	"" []	4399400	\N	\N	EFO	6	EFO	genetic disorder	Primary dystonia, DYT17 type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370103	"" []	5416374	\N	\N	EFO	7	EFO	disease	Primary dystonia, DYT17 type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370103	"" []	5416375	\N	\N	EFO	7	EFO	disease	Primary dystonia, DYT17 type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370103	"" []	6151899	\N	\N	EFO	8	EFO	disposition	Primary dystonia, DYT17 type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370103	"" []	6633839	\N	\N	EFO	9	EFO	material property	Primary dystonia, DYT17 type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370103	"" []	6926146	\N	\N	EFO	10	EFO	experimental factor	Primary dystonia, DYT17 type
Orphanet:370106	\N	\N	"" []	Orphanet:370106	"" []	77088	\N	\N	EFO	0	EFO	Rare disorder with dystonia and other neurologic or systemic manifestation	Rare disorder with dystonia and other neurologic or systemic manifestation
Orphanet:391799	Orphanet:370106	\N	"" []	Orphanet:370106	"" []	220571	\N	\N	EFO	1	EFO	Rare genetic dystonia	Rare disorder with dystonia and other neurologic or systemic manifestation
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:370106	"" []	576303	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Rare disorder with dystonia and other neurologic or systemic manifestation
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:370106	"" []	1159438	\N	\N	EFO	3	EFO	movement disorder	Rare disorder with dystonia and other neurologic or systemic manifestation
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:370106	"" []	1159439	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Rare disorder with dystonia and other neurologic or systemic manifestation
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:370106	"" []	2042781	\N	\N	EFO	4	EFO	nervous system disease	Rare disorder with dystonia and other neurologic or systemic manifestation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370106	"" []	2042782	\N	\N	EFO	4	EFO	genetic disorder	Rare disorder with dystonia and other neurologic or systemic manifestation
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370106	"" []	3193024	\N	\N	EFO	5	EFO	disease	Rare disorder with dystonia and other neurologic or systemic manifestation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370106	"" []	3193025	\N	\N	EFO	5	EFO	disease	Rare disorder with dystonia and other neurologic or systemic manifestation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370106	"" []	4399401	\N	\N	EFO	6	EFO	disposition	Rare disorder with dystonia and other neurologic or systemic manifestation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370106	"" []	5416376	\N	\N	EFO	7	EFO	material property	Rare disorder with dystonia and other neurologic or systemic manifestation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370106	"" []	6151900	\N	\N	EFO	8	EFO	experimental factor	Rare disorder with dystonia and other neurologic or systemic manifestation
Orphanet:370109	\N	\N	"" []	Orphanet:370109	"" []	77089	\N	\N	EFO	0	EFO	Ataxia-telangiectasia variant	Ataxia-telangiectasia variant
Orphanet:391711	Orphanet:370109	\N	"" []	Orphanet:370109	"" []	220572	\N	\N	EFO	1	EFO	Persistent combined dystonia	Ataxia-telangiectasia variant
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:370109	"" []	576304	\N	\N	EFO	2	EFO	Combined dystonia	Ataxia-telangiectasia variant
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:370109	"" []	1159440	\N	\N	EFO	3	EFO	Rare genetic dystonia	Ataxia-telangiectasia variant
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:370109	"" []	2042783	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Ataxia-telangiectasia variant
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:370109	"" []	3193026	\N	\N	EFO	5	EFO	movement disorder	Ataxia-telangiectasia variant
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:370109	"" []	3193027	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Ataxia-telangiectasia variant
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:370109	"" []	4399402	\N	\N	EFO	6	EFO	nervous system disease	Ataxia-telangiectasia variant
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370109	"" []	4399403	\N	\N	EFO	6	EFO	genetic disorder	Ataxia-telangiectasia variant
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370109	"" []	5416377	\N	\N	EFO	7	EFO	disease	Ataxia-telangiectasia variant
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370109	"" []	5416378	\N	\N	EFO	7	EFO	disease	Ataxia-telangiectasia variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370109	"" []	6151901	\N	\N	EFO	8	EFO	disposition	Ataxia-telangiectasia variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370109	"" []	6633840	\N	\N	EFO	9	EFO	material property	Ataxia-telangiectasia variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370109	"" []	6926147	\N	\N	EFO	10	EFO	experimental factor	Ataxia-telangiectasia variant
Orphanet:370114	\N	\N	"" []	Orphanet:370114	"" []	77090	\N	\N	EFO	0	EFO	Combined cervical dystonia	Combined cervical dystonia
Orphanet:391711	Orphanet:370114	\N	"" []	Orphanet:370114	"" []	220573	\N	\N	EFO	1	EFO	Persistent combined dystonia	Combined cervical dystonia
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:370114	"" []	576305	\N	\N	EFO	2	EFO	Combined dystonia	Combined cervical dystonia
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:370114	"" []	1159441	\N	\N	EFO	3	EFO	Rare genetic dystonia	Combined cervical dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:370114	"" []	2042784	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Combined cervical dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:370114	"" []	3193028	\N	\N	EFO	5	EFO	movement disorder	Combined cervical dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:370114	"" []	3193029	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Combined cervical dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:370114	"" []	4399404	\N	\N	EFO	6	EFO	nervous system disease	Combined cervical dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370114	"" []	4399405	\N	\N	EFO	6	EFO	genetic disorder	Combined cervical dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370114	"" []	5416379	\N	\N	EFO	7	EFO	disease	Combined cervical dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370114	"" []	5416380	\N	\N	EFO	7	EFO	disease	Combined cervical dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370114	"" []	6151902	\N	\N	EFO	8	EFO	disposition	Combined cervical dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370114	"" []	6633841	\N	\N	EFO	9	EFO	material property	Combined cervical dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370114	"" []	6926148	\N	\N	EFO	10	EFO	experimental factor	Combined cervical dystonia
Orphanet:370127	\N	\N	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	77091	\N	\N	EFO	0	EFO	Medich giant platelet syndrome	Medich giant platelet syndrome
Orphanet:98455	Orphanet:370127	\N	"" []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	220574	\N	\N	EFO	1	EFO	Alpha granule disease	Medich giant platelet syndrome
Orphanet:98454	Orphanet:98455	\N	"" []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	576306	\N	\N	EFO	2	EFO	Platelet storage pool disease	Medich giant platelet syndrome
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	1159442	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Medich giant platelet syndrome
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	2042785	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Medich giant platelet syndrome
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	3193030	\N	\N	EFO	5	EFO	Rare genetic coagulation disorder	Medich giant platelet syndrome
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	4399406	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Medich giant platelet syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	5416381	\N	\N	EFO	7	EFO	genetic disorder	Medich giant platelet syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	5416382	\N	\N	EFO	7	EFO	hematological system disease	Medich giant platelet syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	6151903	\N	\N	EFO	8	EFO	disease	Medich giant platelet syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	6151904	\N	\N	EFO	8	EFO	disease	Medich giant platelet syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	6633842	\N	\N	EFO	9	EFO	disposition	Medich giant platelet syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	6926149	\N	\N	EFO	10	EFO	material property	Medich giant platelet syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370127	"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." []	7099292	\N	\N	EFO	11	EFO	experimental factor	Medich giant platelet syndrome
Orphanet:370131	\N	\N	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	77092	\N	\N	EFO	0	EFO	White platelet syndrome	White platelet syndrome
Orphanet:98455	Orphanet:370131	\N	"" []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	220575	\N	\N	EFO	1	EFO	Alpha granule disease	White platelet syndrome
Orphanet:98454	Orphanet:98455	\N	"" []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	576307	\N	\N	EFO	2	EFO	Platelet storage pool disease	White platelet syndrome
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	1159443	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	White platelet syndrome
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	2042786	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	White platelet syndrome
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	3193031	\N	\N	EFO	5	EFO	Rare genetic coagulation disorder	White platelet syndrome
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	4399407	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	White platelet syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	5416383	\N	\N	EFO	7	EFO	genetic disorder	White platelet syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	5416384	\N	\N	EFO	7	EFO	hematological system disease	White platelet syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	6151905	\N	\N	EFO	8	EFO	disease	White platelet syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	6151906	\N	\N	EFO	8	EFO	disease	White platelet syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	6633843	\N	\N	EFO	9	EFO	disposition	White platelet syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	6926150	\N	\N	EFO	10	EFO	material property	White platelet syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370131	"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." []	7099293	\N	\N	EFO	11	EFO	experimental factor	White platelet syndrome
Orphanet:37042	\N	\N	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	77093	\N	\N	EFO	0	EFO	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Orphanet:169355	Orphanet:37042	\N	"" []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	220576	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with autoimmunity	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Orphanet:183643	Orphanet:37042	\N	"" []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	220577	\N	\N	EFO	1	EFO	Genetic polyendocrinopathy	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Orphanet:363300	Orphanet:37042	\N	"" []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	220578	\N	\N	EFO	1	EFO	Genetic intractable diarrhea of infancy	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Orphanet:169361	Orphanet:169355	\N	"" []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	576308	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	576309	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Orphanet:165655	Orphanet:363300	\N	"" []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	576310	\N	\N	EFO	2	EFO	Genetic intestinal disease	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	1159444	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	1159445	\N	\N	EFO	3	EFO	genetic disorder	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	1159446	\N	\N	EFO	3	EFO	endocrine system disease	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	1159447	\N	\N	EFO	3	EFO	digestive system disease	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	1159448	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	2042787	\N	\N	EFO	4	EFO	Primary immunodeficiency	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	5416385	\N	\N	EFO	7	EFO	disease	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	2042789	\N	\N	EFO	4	EFO	disease	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	2042790	\N	\N	EFO	4	EFO	disease	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	2042791	\N	\N	EFO	4	EFO	genetic disorder	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	3193032	\N	\N	EFO	5	EFO	Rare genetic immune disease	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	5817746	\N	\N	EFO	8	EFO	disposition	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	4399408	\N	\N	EFO	6	EFO	genetic disorder	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	4399409	\N	\N	EFO	6	EFO	immune system disease	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	6410218	\N	\N	EFO	9	EFO	material property	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	5416386	\N	\N	EFO	7	EFO	disease	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:37042	"Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." []	6808050	\N	\N	EFO	10	EFO	experimental factor	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Orphanet:370921	\N	\N	"" []	Orphanet:370921	"" []	77094	\N	\N	EFO	0	EFO	STT3A-CDG	STT3A-CDG
Orphanet:309347	Orphanet:370921	\N	"" []	Orphanet:370921	"" []	220579	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	STT3A-CDG
Orphanet:371064	Orphanet:370921	\N	"" []	Orphanet:370921	"" []	220580	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	STT3A-CDG
Orphanet:371071	Orphanet:370921	\N	"" []	Orphanet:370921	"" []	220581	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	STT3A-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:370921	"" []	576311	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	STT3A-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:370921	"" []	576312	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	STT3A-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:370921	"" []	576313	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	STT3A-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:370921	"" []	576314	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	STT3A-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:370921	"" []	1159449	\N	\N	EFO	3	EFO	Inborn errors of metabolism	STT3A-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:370921	"" []	1159450	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	STT3A-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:370921	"" []	1159451	\N	\N	EFO	3	EFO	Neurometabolic disease	STT3A-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370921	"" []	2042792	\N	\N	EFO	4	EFO	genetic disorder	STT3A-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370921	"" []	2042793	\N	\N	EFO	4	EFO	metabolic disease	STT3A-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:370921	"" []	2042794	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	STT3A-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:370921	"" []	2042795	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	STT3A-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370921	"" []	5182898	\N	\N	EFO	7	EFO	disease	STT3A-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370921	"" []	3193036	\N	\N	EFO	5	EFO	disease	STT3A-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:370921	"" []	3193037	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	STT3A-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370921	"" []	4399412	\N	\N	EFO	6	EFO	genetic disorder	STT3A-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370921	"" []	5877479	\N	\N	EFO	8	EFO	disposition	STT3A-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370921	"" []	6470712	\N	\N	EFO	9	EFO	material property	STT3A-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370921	"" []	6848677	\N	\N	EFO	10	EFO	experimental factor	STT3A-CDG
Orphanet:370924	\N	\N	"" []	Orphanet:370924	"" []	77095	\N	\N	EFO	0	EFO	STT3B-CDG	STT3B-CDG
Orphanet:309347	Orphanet:370924	\N	"" []	Orphanet:370924	"" []	220582	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	STT3B-CDG
Orphanet:371064	Orphanet:370924	\N	"" []	Orphanet:370924	"" []	220583	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	STT3B-CDG
Orphanet:371071	Orphanet:370924	\N	"" []	Orphanet:370924	"" []	220584	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	STT3B-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:370924	"" []	576315	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	STT3B-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:370924	"" []	576316	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	STT3B-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:370924	"" []	576317	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	STT3B-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:370924	"" []	576318	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	STT3B-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:370924	"" []	1159452	\N	\N	EFO	3	EFO	Inborn errors of metabolism	STT3B-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:370924	"" []	1159453	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	STT3B-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:370924	"" []	1159454	\N	\N	EFO	3	EFO	Neurometabolic disease	STT3B-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370924	"" []	2042796	\N	\N	EFO	4	EFO	genetic disorder	STT3B-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370924	"" []	2042797	\N	\N	EFO	4	EFO	metabolic disease	STT3B-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:370924	"" []	2042798	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	STT3B-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:370924	"" []	2042799	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	STT3B-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370924	"" []	5182900	\N	\N	EFO	7	EFO	disease	STT3B-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370924	"" []	3193040	\N	\N	EFO	5	EFO	disease	STT3B-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:370924	"" []	3193041	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	STT3B-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370924	"" []	4399415	\N	\N	EFO	6	EFO	genetic disorder	STT3B-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370924	"" []	5877480	\N	\N	EFO	8	EFO	disposition	STT3B-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370924	"" []	6470713	\N	\N	EFO	9	EFO	material property	STT3B-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370924	"" []	6848678	\N	\N	EFO	10	EFO	experimental factor	STT3B-CDG
Orphanet:370927	\N	\N	"" []	Orphanet:370927	"" []	77096	\N	\N	EFO	0	EFO	SSR4-CDG	SSR4-CDG
Orphanet:102283	Orphanet:370927	\N	"" []	Orphanet:370927	"" []	220585	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	SSR4-CDG
Orphanet:309347	Orphanet:370927	\N	"" []	Orphanet:370927	"" []	220586	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	SSR4-CDG
Orphanet:371071	Orphanet:370927	\N	"" []	Orphanet:370927	"" []	220587	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	SSR4-CDG
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:370927	"" []	576319	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	SSR4-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:370927	"" []	576320	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	SSR4-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:370927	"" []	576321	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	SSR4-CDG
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:370927	"" []	1159455	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	SSR4-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:370927	"" []	1159456	\N	\N	EFO	3	EFO	Inborn errors of metabolism	SSR4-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:370927	"" []	1159457	\N	\N	EFO	3	EFO	Neurometabolic disease	SSR4-CDG
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370927	"" []	2042800	\N	\N	EFO	4	EFO	genetic disorder	SSR4-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370927	"" []	2042801	\N	\N	EFO	4	EFO	genetic disorder	SSR4-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370927	"" []	2042802	\N	\N	EFO	4	EFO	metabolic disease	SSR4-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:370927	"" []	2042803	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	SSR4-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370927	"" []	4399418	\N	\N	EFO	6	EFO	disease	SSR4-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370927	"" []	3193044	\N	\N	EFO	5	EFO	disease	SSR4-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370927	"" []	3193045	\N	\N	EFO	5	EFO	genetic disorder	SSR4-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370927	"" []	5182901	\N	\N	EFO	7	EFO	disposition	SSR4-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370927	"" []	5998271	\N	\N	EFO	8	EFO	material property	SSR4-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370927	"" []	6551498	\N	\N	EFO	9	EFO	experimental factor	SSR4-CDG
Orphanet:370930	\N	\N	"" []	Orphanet:370930	"" []	77097	\N	\N	EFO	0	EFO	XYLT1-CDG	XYLT1-CDG
Orphanet:102283	Orphanet:370930	\N	"" []	Orphanet:370930	"" []	220588	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	XYLT1-CDG
Orphanet:309450	Orphanet:370930	\N	"" []	Orphanet:370930	"" []	220589	\N	\N	EFO	1	EFO	Disorder of O-xylosylglycan synthesis	XYLT1-CDG
Orphanet:371064	Orphanet:370930	\N	"" []	Orphanet:370930	"" []	220590	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	XYLT1-CDG
Orphanet:371235	Orphanet:370930	\N	"" []	Orphanet:370930	"" []	220591	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with developmental anomaly	XYLT1-CDG
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:370930	"" []	576322	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	XYLT1-CDG
Orphanet:309447	Orphanet:309450	\N	"" []	Orphanet:370930	"" []	576323	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	XYLT1-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:370930	"" []	576324	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	XYLT1-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:370930	"" []	576325	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	XYLT1-CDG
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:370930	"" []	576326	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	XYLT1-CDG
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:370930	"" []	1159458	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	XYLT1-CDG
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:370930	"" []	1159459	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	XYLT1-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:370930	"" []	1159460	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	XYLT1-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:370930	"" []	1159461	\N	\N	EFO	3	EFO	Neurometabolic disease	XYLT1-CDG
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:370930	"" []	1159462	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	XYLT1-CDG
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370930	"" []	2042804	\N	\N	EFO	4	EFO	genetic disorder	XYLT1-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:370930	"" []	2042805	\N	\N	EFO	4	EFO	Inborn errors of metabolism	XYLT1-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:370930	"" []	2042806	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	XYLT1-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:370930	"" []	2042807	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	XYLT1-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370930	"" []	5182903	\N	\N	EFO	7	EFO	disease	XYLT1-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370930	"" []	3193047	\N	\N	EFO	5	EFO	genetic disorder	XYLT1-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370930	"" []	3193048	\N	\N	EFO	5	EFO	metabolic disease	XYLT1-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:370930	"" []	3193049	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	XYLT1-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370930	"" []	4399422	\N	\N	EFO	6	EFO	genetic disorder	XYLT1-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370930	"" []	5877481	\N	\N	EFO	8	EFO	disposition	XYLT1-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370930	"" []	4399421	\N	\N	EFO	6	EFO	disease	XYLT1-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370930	"" []	6470714	\N	\N	EFO	9	EFO	material property	XYLT1-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370930	"" []	6848679	\N	\N	EFO	10	EFO	experimental factor	XYLT1-CDG
Orphanet:370933	\N	\N	"" []	Orphanet:370933	"" []	77098	\N	\N	EFO	0	EFO	ST3GAL5-CDG	ST3GAL5-CDG
Orphanet:309515	Orphanet:370933	\N	"" []	Orphanet:370933	"" []	220592	\N	\N	EFO	1	EFO	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	ST3GAL5-CDG
Orphanet:352306	Orphanet:370933	\N	"" []	Orphanet:370933	"" []	220593	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	ST3GAL5-CDG
Orphanet:371064	Orphanet:370933	\N	"" []	Orphanet:370933	"" []	220594	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	ST3GAL5-CDG
Orphanet:371071	Orphanet:370933	\N	"" []	Orphanet:370933	"" []	220595	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	ST3GAL5-CDG
Orphanet:371200	Orphanet:370933	\N	"" []	Orphanet:370933	"" []	220596	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	ST3GAL5-CDG
Orphanet:137	Orphanet:309515	\N	"" []	Orphanet:370933	"" []	576327	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	ST3GAL5-CDG
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:370933	"" []	576328	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	ST3GAL5-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:370933	"" []	576329	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	ST3GAL5-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:370933	"" []	576330	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ST3GAL5-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:370933	"" []	576331	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ST3GAL5-CDG
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:370933	"" []	576332	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	ST3GAL5-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:370933	"" []	1159463	\N	\N	EFO	3	EFO	Inborn errors of metabolism	ST3GAL5-CDG
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:370933	"" []	1159464	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	ST3GAL5-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:370933	"" []	1159465	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	ST3GAL5-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:370933	"" []	1159466	\N	\N	EFO	3	EFO	Neurometabolic disease	ST3GAL5-CDG
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:370933	"" []	1159467	\N	\N	EFO	3	EFO	Rare genetic skin disease	ST3GAL5-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370933	"" []	3193053	\N	\N	EFO	5	EFO	genetic disorder	ST3GAL5-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370933	"" []	3193054	\N	\N	EFO	5	EFO	metabolic disease	ST3GAL5-CDG
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:370933	"" []	2042810	\N	\N	EFO	4	EFO	Inborn errors of metabolism	ST3GAL5-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:370933	"" []	2042811	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	ST3GAL5-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:370933	"" []	2042812	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	ST3GAL5-CDG
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370933	"" []	2042813	\N	\N	EFO	4	EFO	genetic disorder	ST3GAL5-CDG
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:370933	"" []	2042814	\N	\N	EFO	4	EFO	skin disease	ST3GAL5-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370933	"" []	5182905	\N	\N	EFO	7	EFO	disease	ST3GAL5-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370933	"" []	4134034	\N	\N	EFO	6	EFO	disease	ST3GAL5-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:370933	"" []	3193055	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	ST3GAL5-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370933	"" []	4399424	\N	\N	EFO	6	EFO	genetic disorder	ST3GAL5-CDG
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370933	"" []	3193057	\N	\N	EFO	5	EFO	disease	ST3GAL5-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370933	"" []	5877482	\N	\N	EFO	8	EFO	disposition	ST3GAL5-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370933	"" []	6470715	\N	\N	EFO	9	EFO	material property	ST3GAL5-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370933	"" []	6848680	\N	\N	EFO	10	EFO	experimental factor	ST3GAL5-CDG
Orphanet:370938	\N	\N	"" []	Orphanet:370938	"" []	77099	\N	\N	EFO	0	EFO	Salt-and-pepper syndrome	Salt-and-pepper syndrome
Orphanet:370933	Orphanet:370938	\N	"" []	Orphanet:370938	"" []	220597	\N	\N	EFO	1	EFO	ST3GAL5-CDG	Salt-and-pepper syndrome
Orphanet:309515	Orphanet:370933	\N	"" []	Orphanet:370938	"" []	576333	\N	\N	EFO	2	EFO	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	Salt-and-pepper syndrome
Orphanet:352306	Orphanet:370933	\N	"" []	Orphanet:370938	"" []	576334	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Salt-and-pepper syndrome
Orphanet:371064	Orphanet:370933	\N	"" []	Orphanet:370938	"" []	576335	\N	\N	EFO	2	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Salt-and-pepper syndrome
Orphanet:371071	Orphanet:370933	\N	"" []	Orphanet:370938	"" []	576336	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Salt-and-pepper syndrome
Orphanet:371200	Orphanet:370933	\N	"" []	Orphanet:370938	"" []	576337	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with skin involvement	Salt-and-pepper syndrome
Orphanet:137	Orphanet:309515	\N	"" []	Orphanet:370938	"" []	1159468	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Salt-and-pepper syndrome
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:370938	"" []	1159469	\N	\N	EFO	3	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Salt-and-pepper syndrome
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:370938	"" []	1159470	\N	\N	EFO	3	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Salt-and-pepper syndrome
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:370938	"" []	1159471	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation with neurological involvement	Salt-and-pepper syndrome
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:370938	"" []	1159472	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation with neurological involvement	Salt-and-pepper syndrome
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:370938	"" []	1159473	\N	\N	EFO	3	EFO	Metabolic disease with skin involvement	Salt-and-pepper syndrome
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:370938	"" []	2042815	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Salt-and-pepper syndrome
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:370938	"" []	2042816	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Salt-and-pepper syndrome
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:370938	"" []	2042817	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Salt-and-pepper syndrome
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:370938	"" []	2042818	\N	\N	EFO	4	EFO	Neurometabolic disease	Salt-and-pepper syndrome
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:370938	"" []	2042819	\N	\N	EFO	4	EFO	Rare genetic skin disease	Salt-and-pepper syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370938	"" []	4399427	\N	\N	EFO	6	EFO	genetic disorder	Salt-and-pepper syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370938	"" []	4399428	\N	\N	EFO	6	EFO	metabolic disease	Salt-and-pepper syndrome
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:370938	"" []	3193060	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Salt-and-pepper syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:370938	"" []	3193061	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Salt-and-pepper syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:370938	"" []	3193062	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Salt-and-pepper syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370938	"" []	3193063	\N	\N	EFO	5	EFO	genetic disorder	Salt-and-pepper syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:370938	"" []	3193064	\N	\N	EFO	5	EFO	skin disease	Salt-and-pepper syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370938	"" []	5998275	\N	\N	EFO	8	EFO	disease	Salt-and-pepper syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370938	"" []	5182907	\N	\N	EFO	7	EFO	disease	Salt-and-pepper syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:370938	"" []	4399429	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Salt-and-pepper syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370938	"" []	5416394	\N	\N	EFO	7	EFO	genetic disorder	Salt-and-pepper syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370938	"" []	4399431	\N	\N	EFO	6	EFO	disease	Salt-and-pepper syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370938	"" []	6470716	\N	\N	EFO	9	EFO	disposition	Salt-and-pepper syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370938	"" []	6848681	\N	\N	EFO	10	EFO	material property	Salt-and-pepper syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370938	"" []	7068499	\N	\N	EFO	11	EFO	experimental factor	Salt-and-pepper syndrome
Orphanet:370943	\N	\N	"" []	Orphanet:370943	"" []	77100	\N	\N	EFO	0	EFO	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:180772	Orphanet:370943	\N	"" []	Orphanet:370943	"" []	220598	\N	\N	EFO	1	EFO	Rare disease with autism	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:309347	Orphanet:370943	\N	"" []	Orphanet:370943	"" []	220599	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:371064	Orphanet:370943	\N	"" []	Orphanet:370943	"" []	220600	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:371071	Orphanet:370943	\N	"" []	Orphanet:370943	"" []	220601	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:371235	Orphanet:370943	\N	"" []	Orphanet:370943	"" []	220602	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with developmental anomaly	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:97120	Orphanet:370943	\N	"" []	Orphanet:370943	"" []	220603	\N	\N	EFO	1	EFO	Distal arthrogryposis	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:370943	"" []	576338	\N	\N	EFO	2	EFO	Rare pervasive developmental disorder	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:370943	"" []	576339	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:370943	"" []	576340	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:370943	"" []	576341	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:370943	"" []	576342	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:370943	"" []	576343	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:370943	"" []	576344	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:370943	"" []	1159474	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:370943	"" []	1159475	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:370943	"" []	1159476	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:370943	"" []	1159477	\N	\N	EFO	3	EFO	Neurometabolic disease	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:370943	"" []	1159478	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:370943	"" []	1159479	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370943	"" []	4399433	\N	\N	EFO	6	EFO	genetic disorder	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370943	"" []	2042821	\N	\N	EFO	4	EFO	genetic disorder	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370943	"" []	2042822	\N	\N	EFO	4	EFO	metabolic disease	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:370943	"" []	2042823	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:370943	"" []	2042824	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370943	"" []	4399434	\N	\N	EFO	6	EFO	genetic disorder	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:370943	"" []	2042826	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370943	"" []	5060081	\N	\N	EFO	7	EFO	disease	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370943	"" []	3193066	\N	\N	EFO	5	EFO	disease	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:370943	"" []	3193067	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:370943	"" []	3193069	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370943	"" []	5877483	\N	\N	EFO	8	EFO	disposition	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370943	"" []	6470717	\N	\N	EFO	9	EFO	material property	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370943	"" []	6848682	\N	\N	EFO	10	EFO	experimental factor	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Orphanet:370953	\N	\N	"" []	Orphanet:370953	"" []	77101	\N	\N	EFO	0	EFO	Congenital muscular dystrophy due to dystroglycanopathy	Congenital muscular dystrophy due to dystroglycanopathy
Orphanet:97242	Orphanet:370953	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:370953	"" []	220604	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy due to dystroglycanopathy
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:370953	"" []	576345	\N	\N	EFO	2	EFO	Muscular dystrophy	Congenital muscular dystrophy due to dystroglycanopathy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:370953	"" []	1159480	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy due to dystroglycanopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:370953	"" []	2042827	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy due to dystroglycanopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:370953	"" []	3193070	\N	\N	EFO	5	EFO	muscular disease	Congenital muscular dystrophy due to dystroglycanopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:370953	"" []	3193071	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy due to dystroglycanopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:370953	"" []	4399435	\N	\N	EFO	6	EFO	skeletal system disease	Congenital muscular dystrophy due to dystroglycanopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370953	"" []	4399436	\N	\N	EFO	6	EFO	genetic disorder	Congenital muscular dystrophy due to dystroglycanopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370953	"" []	5416396	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy due to dystroglycanopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370953	"" []	5416397	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy due to dystroglycanopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370953	"" []	6151914	\N	\N	EFO	8	EFO	disposition	Congenital muscular dystrophy due to dystroglycanopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370953	"" []	6633845	\N	\N	EFO	9	EFO	material property	Congenital muscular dystrophy due to dystroglycanopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370953	"" []	6926151	\N	\N	EFO	10	EFO	experimental factor	Congenital muscular dystrophy due to dystroglycanopathy
Orphanet:370959	\N	\N	"" []	Orphanet:370959	"" []	77102	\N	\N	EFO	0	EFO	Congenital muscular dystrophy with cerebellar involvement	Congenital muscular dystrophy with cerebellar involvement
Orphanet:309469	Orphanet:370959	\N	"" []	Orphanet:370959	"" []	220605	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Congenital muscular dystrophy with cerebellar involvement
Orphanet:370953	Orphanet:370959	\N	"" []	Orphanet:370959	"" []	220606	\N	\N	EFO	1	EFO	Congenital muscular dystrophy due to dystroglycanopathy	Congenital muscular dystrophy with cerebellar involvement
Orphanet:371064	Orphanet:370959	\N	"" []	Orphanet:370959	"" []	220607	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Congenital muscular dystrophy with cerebellar involvement
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:370959	"" []	576346	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Congenital muscular dystrophy with cerebellar involvement
Orphanet:97242	Orphanet:370953	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:370959	"" []	576347	\N	\N	EFO	2	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy with cerebellar involvement
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:370959	"" []	576348	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Congenital muscular dystrophy with cerebellar involvement
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:370959	"" []	576349	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Congenital muscular dystrophy with cerebellar involvement
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:370959	"" []	1159481	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Congenital muscular dystrophy with cerebellar involvement
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:370959	"" []	1159482	\N	\N	EFO	3	EFO	Muscular dystrophy	Congenital muscular dystrophy with cerebellar involvement
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:370959	"" []	1159483	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Congenital muscular dystrophy with cerebellar involvement
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:370959	"" []	1159484	\N	\N	EFO	3	EFO	Neurometabolic disease	Congenital muscular dystrophy with cerebellar involvement
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:370959	"" []	2042828	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital muscular dystrophy with cerebellar involvement
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:370959	"" []	2042829	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy with cerebellar involvement
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:370959	"" []	2042830	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Congenital muscular dystrophy with cerebellar involvement
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:370959	"" []	2042831	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy with cerebellar involvement
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370959	"" []	3193072	\N	\N	EFO	5	EFO	genetic disorder	Congenital muscular dystrophy with cerebellar involvement
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370959	"" []	3193073	\N	\N	EFO	5	EFO	metabolic disease	Congenital muscular dystrophy with cerebellar involvement
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:370959	"" []	3193074	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy with cerebellar involvement
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:370959	"" []	3193075	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy with cerebellar involvement
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370959	"" []	5416400	\N	\N	EFO	7	EFO	genetic disorder	Congenital muscular dystrophy with cerebellar involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370959	"" []	5877484	\N	\N	EFO	8	EFO	disease	Congenital muscular dystrophy with cerebellar involvement
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370959	"" []	4399438	\N	\N	EFO	6	EFO	disease	Congenital muscular dystrophy with cerebellar involvement
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:370959	"" []	4399439	\N	\N	EFO	6	EFO	muscular disease	Congenital muscular dystrophy with cerebellar involvement
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:370959	"" []	4399440	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy with cerebellar involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370959	"" []	6470718	\N	\N	EFO	9	EFO	disposition	Congenital muscular dystrophy with cerebellar involvement
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:370959	"" []	5416399	\N	\N	EFO	7	EFO	skeletal system disease	Congenital muscular dystrophy with cerebellar involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370959	"" []	6848683	\N	\N	EFO	10	EFO	material property	Congenital muscular dystrophy with cerebellar involvement
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370959	"" []	6151916	\N	\N	EFO	8	EFO	disease	Congenital muscular dystrophy with cerebellar involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370959	"" []	7068500	\N	\N	EFO	11	EFO	experimental factor	Congenital muscular dystrophy with cerebellar involvement
Orphanet:370968	\N	\N	"" []	Orphanet:370968	"" []	77103	\N	\N	EFO	0	EFO	Congenital muscular dystrophy with intellectual disability	Congenital muscular dystrophy with intellectual disability
Orphanet:309469	Orphanet:370968	\N	"" []	Orphanet:370968	"" []	220608	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Congenital muscular dystrophy with intellectual disability
Orphanet:370953	Orphanet:370968	\N	"" []	Orphanet:370968	"" []	220609	\N	\N	EFO	1	EFO	Congenital muscular dystrophy due to dystroglycanopathy	Congenital muscular dystrophy with intellectual disability
Orphanet:371064	Orphanet:370968	\N	"" []	Orphanet:370968	"" []	220610	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Congenital muscular dystrophy with intellectual disability
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:370968	"" []	576350	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Congenital muscular dystrophy with intellectual disability
Orphanet:97242	Orphanet:370953	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:370968	"" []	576351	\N	\N	EFO	2	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy with intellectual disability
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:370968	"" []	576352	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Congenital muscular dystrophy with intellectual disability
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:370968	"" []	576353	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Congenital muscular dystrophy with intellectual disability
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:370968	"" []	1159485	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Congenital muscular dystrophy with intellectual disability
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:370968	"" []	1159486	\N	\N	EFO	3	EFO	Muscular dystrophy	Congenital muscular dystrophy with intellectual disability
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:370968	"" []	1159487	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Congenital muscular dystrophy with intellectual disability
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:370968	"" []	1159488	\N	\N	EFO	3	EFO	Neurometabolic disease	Congenital muscular dystrophy with intellectual disability
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:370968	"" []	2042832	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital muscular dystrophy with intellectual disability
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:370968	"" []	2042833	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy with intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:370968	"" []	2042834	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Congenital muscular dystrophy with intellectual disability
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:370968	"" []	2042835	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy with intellectual disability
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370968	"" []	3193077	\N	\N	EFO	5	EFO	genetic disorder	Congenital muscular dystrophy with intellectual disability
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370968	"" []	3193078	\N	\N	EFO	5	EFO	metabolic disease	Congenital muscular dystrophy with intellectual disability
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:370968	"" []	3193079	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy with intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:370968	"" []	3193080	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy with intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370968	"" []	5416403	\N	\N	EFO	7	EFO	genetic disorder	Congenital muscular dystrophy with intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370968	"" []	5877485	\N	\N	EFO	8	EFO	disease	Congenital muscular dystrophy with intellectual disability
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370968	"" []	4399443	\N	\N	EFO	6	EFO	disease	Congenital muscular dystrophy with intellectual disability
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:370968	"" []	4399444	\N	\N	EFO	6	EFO	muscular disease	Congenital muscular dystrophy with intellectual disability
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:370968	"" []	4399445	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy with intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370968	"" []	6470719	\N	\N	EFO	9	EFO	disposition	Congenital muscular dystrophy with intellectual disability
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:370968	"" []	5416402	\N	\N	EFO	7	EFO	skeletal system disease	Congenital muscular dystrophy with intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370968	"" []	6848684	\N	\N	EFO	10	EFO	material property	Congenital muscular dystrophy with intellectual disability
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370968	"" []	6151918	\N	\N	EFO	8	EFO	disease	Congenital muscular dystrophy with intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370968	"" []	7068501	\N	\N	EFO	11	EFO	experimental factor	Congenital muscular dystrophy with intellectual disability
Orphanet:370980	\N	\N	"" []	Orphanet:370980	"" []	77104	\N	\N	EFO	0	EFO	Congenital muscular dystrophy without intellectual disability	Congenital muscular dystrophy without intellectual disability
Orphanet:309469	Orphanet:370980	\N	"" []	Orphanet:370980	"" []	220611	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Congenital muscular dystrophy without intellectual disability
Orphanet:370953	Orphanet:370980	\N	"" []	Orphanet:370980	"" []	220612	\N	\N	EFO	1	EFO	Congenital muscular dystrophy due to dystroglycanopathy	Congenital muscular dystrophy without intellectual disability
Orphanet:371047	Orphanet:370980	\N	"" []	Orphanet:370980	"" []	220613	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	Congenital muscular dystrophy without intellectual disability
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:370980	"" []	576354	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Congenital muscular dystrophy without intellectual disability
Orphanet:97242	Orphanet:370953	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:370980	"" []	576355	\N	\N	EFO	2	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy without intellectual disability
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:370980	"" []	576356	\N	\N	EFO	2	EFO	Neurometabolic disease	Congenital muscular dystrophy without intellectual disability
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:370980	"" []	1159489	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Congenital muscular dystrophy without intellectual disability
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:370980	"" []	1159490	\N	\N	EFO	3	EFO	Muscular dystrophy	Congenital muscular dystrophy without intellectual disability
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:370980	"" []	1159491	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy without intellectual disability
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:370980	"" []	2042836	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Congenital muscular dystrophy without intellectual disability
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:370980	"" []	2042837	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy without intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370980	"" []	5416405	\N	\N	EFO	7	EFO	genetic disorder	Congenital muscular dystrophy without intellectual disability
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370980	"" []	3193082	\N	\N	EFO	5	EFO	genetic disorder	Congenital muscular dystrophy without intellectual disability
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:370980	"" []	3193083	\N	\N	EFO	5	EFO	metabolic disease	Congenital muscular dystrophy without intellectual disability
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:370980	"" []	3193084	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy without intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370980	"" []	5817747	\N	\N	EFO	8	EFO	disease	Congenital muscular dystrophy without intellectual disability
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370980	"" []	4399448	\N	\N	EFO	6	EFO	disease	Congenital muscular dystrophy without intellectual disability
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:370980	"" []	4399449	\N	\N	EFO	6	EFO	muscular disease	Congenital muscular dystrophy without intellectual disability
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:370980	"" []	4399450	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy without intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370980	"" []	6410219	\N	\N	EFO	9	EFO	disposition	Congenital muscular dystrophy without intellectual disability
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:370980	"" []	5416404	\N	\N	EFO	7	EFO	skeletal system disease	Congenital muscular dystrophy without intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370980	"" []	6808051	\N	\N	EFO	10	EFO	material property	Congenital muscular dystrophy without intellectual disability
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370980	"" []	6151919	\N	\N	EFO	8	EFO	disease	Congenital muscular dystrophy without intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370980	"" []	7048748	\N	\N	EFO	11	EFO	experimental factor	Congenital muscular dystrophy without intellectual disability
Orphanet:370997	\N	\N	"" []	Orphanet:370997	"" []	77105	\N	\N	EFO	0	EFO	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:352687	Orphanet:370997	\N	"" []	Orphanet:370997	"" []	220614	\N	\N	EFO	1	EFO	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:371040	Orphanet:370997	\N	"" []	Orphanet:370997	"" []	220615	\N	\N	EFO	1	EFO	Primary qualitative or quantitative defects of alpha-dystroglycan	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:370953	Orphanet:352687	\N	"" []	Orphanet:370997	"" []	576357	\N	\N	EFO	2	EFO	Congenital muscular dystrophy due to dystroglycanopathy	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:51577	Orphanet:352687	\N	"" []	Orphanet:370997	"" []	576358	\N	\N	EFO	2	EFO	Cobblestone lissencephaly	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:371024	Orphanet:371040	\N	"" []	Orphanet:370997	"" []	576359	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:97242	Orphanet:370953	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:370997	"" []	1159492	\N	\N	EFO	3	EFO	Congenital muscular dystrophy	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:48471	Orphanet:51577	\N	"" []	Orphanet:370997	"" []	1159493	\N	\N	EFO	3	EFO	Lissencephaly	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:370997	"" []	1159494	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:370997	"" []	2042839	\N	\N	EFO	4	EFO	Muscular dystrophy	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:370997	"" []	2042840	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:370997	"" []	2042841	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:370997	"" []	2042842	\N	\N	EFO	4	EFO	Genetic syndrome with a central nervous system malformation as major feature	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:370997	"" []	2042843	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:370997	"" []	3193086	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:370997	"" []	3193087	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:370997	"" []	3193088	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:370997	"" []	3193089	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:370997	"" []	5416407	\N	\N	EFO	7	EFO	muscular disease	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:370997	"" []	5416408	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:370997	"" []	4399452	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:370997	"" []	4399453	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:370997	"" []	4399454	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:370997	"" []	4399455	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:370997	"" []	4399456	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:370997	"" []	5877486	\N	\N	EFO	8	EFO	skeletal system disease	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370997	"" []	5877487	\N	\N	EFO	8	EFO	genetic disorder	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:370997	"" []	5416410	\N	\N	EFO	7	EFO	genetic disorder	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370997	"" []	6470720	\N	\N	EFO	9	EFO	disease	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:370997	"" []	6470721	\N	\N	EFO	9	EFO	disease	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:370997	"" []	6848685	\N	\N	EFO	10	EFO	disposition	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:370997	"" []	7068502	\N	\N	EFO	11	EFO	material property	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:370997	"" []	7197169	\N	\N	EFO	12	EFO	experimental factor	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Orphanet:371	\N	\N	"" []	Orphanet:371	"" []	77106	\N	\N	EFO	0	EFO	Glycogen storage disease due to muscle phosphofructokinase deficiency	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:206959	Orphanet:371	\N	"" []	Orphanet:371	"" []	220616	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:79201	Orphanet:371	\N	"" []	Orphanet:371	"" []	220617	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:98372	Orphanet:371	\N	"" []	Orphanet:371	"" []	220618	\N	\N	EFO	1	EFO	Hemolytic anemia due to a disorder of glycolytic enzymes	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:371	"" []	576360	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:371	"" []	576361	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:98369	Orphanet:98372	\N	"" []	Orphanet:371	"" []	576362	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:371	"" []	1159495	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:371	"" []	1159496	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:371	"" []	1159497	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:371	"" []	2042844	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to muscle phosphofructokinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371	"" []	2042845	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to muscle phosphofructokinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:371	"" []	2042846	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:371	"" []	2042847	\N	\N	EFO	4	EFO	Rare constitutional anemia	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:371	"" []	3193092	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to muscle phosphofructokinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371	"" []	6151923	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to muscle phosphofructokinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371	"" []	3193094	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:371	"" []	3193095	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Glycogen storage disease due to muscle phosphofructokinase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:371	"" []	4399459	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:371	"" []	4399460	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to muscle phosphofructokinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371	"" []	6410220	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to muscle phosphofructokinase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371	"" []	4399462	\N	\N	EFO	6	EFO	genetic disorder	Glycogen storage disease due to muscle phosphofructokinase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:371	"" []	4399463	\N	\N	EFO	6	EFO	hematological system disease	Glycogen storage disease due to muscle phosphofructokinase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:371	"" []	5416413	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to muscle phosphofructokinase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371	"" []	5416414	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to muscle phosphofructokinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371	"" []	6808052	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to muscle phosphofructokinase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371	"" []	5416417	\N	\N	EFO	7	EFO	disease	Glycogen storage disease due to muscle phosphofructokinase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371	"" []	6151922	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to muscle phosphofructokinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371	"" []	7048749	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to muscle phosphofructokinase deficiency
Orphanet:371007	\N	\N	"" []	Orphanet:371007	"" []	77107	\N	\N	EFO	0	EFO	Congenital muscular dystrophy with hyperlaxity	Congenital muscular dystrophy with hyperlaxity
Orphanet:97242	Orphanet:371007	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:371007	"" []	220619	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy with hyperlaxity
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:371007	"" []	576363	\N	\N	EFO	2	EFO	Muscular dystrophy	Congenital muscular dystrophy with hyperlaxity
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:371007	"" []	1159498	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy with hyperlaxity
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:371007	"" []	2042848	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy with hyperlaxity
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:371007	"" []	3193096	\N	\N	EFO	5	EFO	muscular disease	Congenital muscular dystrophy with hyperlaxity
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:371007	"" []	3193097	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy with hyperlaxity
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:371007	"" []	4399464	\N	\N	EFO	6	EFO	skeletal system disease	Congenital muscular dystrophy with hyperlaxity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371007	"" []	4399465	\N	\N	EFO	6	EFO	genetic disorder	Congenital muscular dystrophy with hyperlaxity
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371007	"" []	5416418	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy with hyperlaxity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371007	"" []	5416419	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy with hyperlaxity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371007	"" []	6151925	\N	\N	EFO	8	EFO	disposition	Congenital muscular dystrophy with hyperlaxity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371007	"" []	6633849	\N	\N	EFO	9	EFO	material property	Congenital muscular dystrophy with hyperlaxity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371007	"" []	6926153	\N	\N	EFO	10	EFO	experimental factor	Congenital muscular dystrophy with hyperlaxity
Orphanet:371024	\N	\N	"" []	Orphanet:371024	"" []	77108	\N	\N	EFO	0	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Qualitative or quantitative defects of alpha-dystroglycan
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:371024	"" []	220620	\N	\N	EFO	1	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative defects of alpha-dystroglycan
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:371024	"" []	576364	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Qualitative or quantitative defects of alpha-dystroglycan
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:371024	"" []	1159499	\N	\N	EFO	3	EFO	muscular disease	Qualitative or quantitative defects of alpha-dystroglycan
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:371024	"" []	1159500	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Qualitative or quantitative defects of alpha-dystroglycan
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:371024	"" []	2042849	\N	\N	EFO	4	EFO	skeletal system disease	Qualitative or quantitative defects of alpha-dystroglycan
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371024	"" []	2042850	\N	\N	EFO	4	EFO	genetic disorder	Qualitative or quantitative defects of alpha-dystroglycan
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371024	"" []	3193098	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of alpha-dystroglycan
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371024	"" []	3193099	\N	\N	EFO	5	EFO	disease	Qualitative or quantitative defects of alpha-dystroglycan
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371024	"" []	4399466	\N	\N	EFO	6	EFO	disposition	Qualitative or quantitative defects of alpha-dystroglycan
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371024	"" []	5416420	\N	\N	EFO	7	EFO	material property	Qualitative or quantitative defects of alpha-dystroglycan
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371024	"" []	6151926	\N	\N	EFO	8	EFO	experimental factor	Qualitative or quantitative defects of alpha-dystroglycan
Orphanet:371040	\N	\N	"" []	Orphanet:371040	"" []	77109	\N	\N	EFO	0	EFO	Primary qualitative or quantitative defects of alpha-dystroglycan	Primary qualitative or quantitative defects of alpha-dystroglycan
Orphanet:371024	Orphanet:371040	\N	"" []	Orphanet:371040	"" []	220621	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Primary qualitative or quantitative defects of alpha-dystroglycan
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:371040	"" []	576365	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Primary qualitative or quantitative defects of alpha-dystroglycan
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:371040	"" []	1159501	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Primary qualitative or quantitative defects of alpha-dystroglycan
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:371040	"" []	2042851	\N	\N	EFO	4	EFO	muscular disease	Primary qualitative or quantitative defects of alpha-dystroglycan
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:371040	"" []	2042852	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Primary qualitative or quantitative defects of alpha-dystroglycan
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:371040	"" []	3193100	\N	\N	EFO	5	EFO	skeletal system disease	Primary qualitative or quantitative defects of alpha-dystroglycan
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371040	"" []	3193101	\N	\N	EFO	5	EFO	genetic disorder	Primary qualitative or quantitative defects of alpha-dystroglycan
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371040	"" []	4399467	\N	\N	EFO	6	EFO	disease	Primary qualitative or quantitative defects of alpha-dystroglycan
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371040	"" []	4399468	\N	\N	EFO	6	EFO	disease	Primary qualitative or quantitative defects of alpha-dystroglycan
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371040	"" []	5416421	\N	\N	EFO	7	EFO	disposition	Primary qualitative or quantitative defects of alpha-dystroglycan
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371040	"" []	6151927	\N	\N	EFO	8	EFO	material property	Primary qualitative or quantitative defects of alpha-dystroglycan
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371040	"" []	6633850	\N	\N	EFO	9	EFO	experimental factor	Primary qualitative or quantitative defects of alpha-dystroglycan
Orphanet:371047	\N	\N	"" []	Orphanet:371047	"" []	77110	\N	\N	EFO	0	EFO	Congenital disorder of glycosylation with neurological involvement	Congenital disorder of glycosylation with neurological involvement
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:371047	"" []	220622	\N	\N	EFO	1	EFO	Neurometabolic disease	Congenital disorder of glycosylation with neurological involvement
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:371047	"" []	576366	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Congenital disorder of glycosylation with neurological involvement
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371047	"" []	1159502	\N	\N	EFO	3	EFO	genetic disorder	Congenital disorder of glycosylation with neurological involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371047	"" []	2042853	\N	\N	EFO	4	EFO	disease	Congenital disorder of glycosylation with neurological involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371047	"" []	3193102	\N	\N	EFO	5	EFO	disposition	Congenital disorder of glycosylation with neurological involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371047	"" []	4399469	\N	\N	EFO	6	EFO	material property	Congenital disorder of glycosylation with neurological involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371047	"" []	5416422	\N	\N	EFO	7	EFO	experimental factor	Congenital disorder of glycosylation with neurological involvement
Orphanet:371054	\N	\N	"" []	Orphanet:371054	"" []	77111	\N	\N	EFO	0	EFO	X-linked congenital disorder of glycosylation with intellectual disability as a major feature	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:182076	Orphanet:371054	\N	"" []	Orphanet:371054	"" []	220623	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:371047	Orphanet:371054	\N	"" []	Orphanet:371054	"" []	220624	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:371054	"" []	576367	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:371054	"" []	576368	\N	\N	EFO	2	EFO	Neurometabolic disease	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:371054	"" []	1159503	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:371054	"" []	1159504	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:371054	"" []	2042854	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371054	"" []	4399470	\N	\N	EFO	6	EFO	genetic disorder	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:371054	"" []	3193103	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371054	"" []	5060082	\N	\N	EFO	7	EFO	disease	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371054	"" []	5877489	\N	\N	EFO	8	EFO	disposition	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371054	"" []	6470723	\N	\N	EFO	9	EFO	material property	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371054	"" []	6848687	\N	\N	EFO	10	EFO	experimental factor	X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:371064	\N	\N	"" []	Orphanet:371064	"" []	77112	\N	\N	EFO	0	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:371064	"" []	220625	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:371064	"" []	220626	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:371064	"" []	576369	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:371064	"" []	576370	\N	\N	EFO	2	EFO	Neurometabolic disease	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:371064	"" []	1159505	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:371064	"" []	1159506	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:371064	"" []	2042856	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371064	"" []	3193105	\N	\N	EFO	5	EFO	genetic disorder	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371064	"" []	4134036	\N	\N	EFO	6	EFO	disease	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371064	"" []	5182912	\N	\N	EFO	7	EFO	disposition	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371064	"" []	5998281	\N	\N	EFO	8	EFO	material property	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371064	"" []	6551507	\N	\N	EFO	9	EFO	experimental factor	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Orphanet:371071	\N	\N	"" []	Orphanet:371071	"" []	77113	\N	\N	EFO	0	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Congenital disorder of glycosylation with epilepsy as a major feature
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:371071	"" []	220627	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	Congenital disorder of glycosylation with epilepsy as a major feature
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:371071	"" []	576371	\N	\N	EFO	2	EFO	Neurometabolic disease	Congenital disorder of glycosylation with epilepsy as a major feature
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:371071	"" []	1159507	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Congenital disorder of glycosylation with epilepsy as a major feature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371071	"" []	2042858	\N	\N	EFO	4	EFO	genetic disorder	Congenital disorder of glycosylation with epilepsy as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371071	"" []	3193107	\N	\N	EFO	5	EFO	disease	Congenital disorder of glycosylation with epilepsy as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371071	"" []	4399473	\N	\N	EFO	6	EFO	disposition	Congenital disorder of glycosylation with epilepsy as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371071	"" []	5416425	\N	\N	EFO	7	EFO	material property	Congenital disorder of glycosylation with epilepsy as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371071	"" []	6151930	\N	\N	EFO	8	EFO	experimental factor	Congenital disorder of glycosylation with epilepsy as a major feature
Orphanet:371157	\N	\N	"" []	Orphanet:371157	"" []	77114	\N	\N	EFO	0	EFO	Congenital disorder of glycosylation with hepatic involvement	Congenital disorder of glycosylation with hepatic involvement
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:371157	"" []	220628	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Congenital disorder of glycosylation with hepatic involvement
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:371157	"" []	576372	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Congenital disorder of glycosylation with hepatic involvement
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:371157	"" []	1159508	\N	\N	EFO	3	EFO	digestive system disease	Congenital disorder of glycosylation with hepatic involvement
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371157	"" []	1159509	\N	\N	EFO	3	EFO	genetic disorder	Congenital disorder of glycosylation with hepatic involvement
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371157	"" []	2042859	\N	\N	EFO	4	EFO	disease	Congenital disorder of glycosylation with hepatic involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371157	"" []	2042860	\N	\N	EFO	4	EFO	disease	Congenital disorder of glycosylation with hepatic involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371157	"" []	3193108	\N	\N	EFO	5	EFO	disposition	Congenital disorder of glycosylation with hepatic involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371157	"" []	4399474	\N	\N	EFO	6	EFO	material property	Congenital disorder of glycosylation with hepatic involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371157	"" []	5416426	\N	\N	EFO	7	EFO	experimental factor	Congenital disorder of glycosylation with hepatic involvement
Orphanet:371176	\N	\N	"" []	Orphanet:371176	"" []	77115	\N	\N	EFO	0	EFO	Congenital disorder of glycosylation with dilated cardiomyopathy	Congenital disorder of glycosylation with dilated cardiomyopathy
Orphanet:217607	Orphanet:371176	\N	"" []	Orphanet:371176	"" []	220629	\N	\N	EFO	1	EFO	Familial dilated cardiomyopathy	Congenital disorder of glycosylation with dilated cardiomyopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:371176	"" []	576373	\N	\N	EFO	2	EFO	cardiomyopathy	Congenital disorder of glycosylation with dilated cardiomyopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:371176	"" []	576374	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Congenital disorder of glycosylation with dilated cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:371176	"" []	1159510	\N	\N	EFO	3	EFO	heart disease	Congenital disorder of glycosylation with dilated cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371176	"" []	1159511	\N	\N	EFO	3	EFO	genetic disorder	Congenital disorder of glycosylation with dilated cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:371176	"" []	1159512	\N	\N	EFO	3	EFO	heart disease	Congenital disorder of glycosylation with dilated cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:371176	"" []	2042861	\N	\N	EFO	4	EFO	cardiovascular disease	Congenital disorder of glycosylation with dilated cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371176	"" []	2042862	\N	\N	EFO	4	EFO	disease	Congenital disorder of glycosylation with dilated cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371176	"" []	3193109	\N	\N	EFO	5	EFO	disease	Congenital disorder of glycosylation with dilated cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371176	"" []	4399475	\N	\N	EFO	6	EFO	disposition	Congenital disorder of glycosylation with dilated cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371176	"" []	5182913	\N	\N	EFO	7	EFO	material property	Congenital disorder of glycosylation with dilated cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371176	"" []	5998282	\N	\N	EFO	8	EFO	experimental factor	Congenital disorder of glycosylation with dilated cardiomyopathy
Orphanet:371183	\N	\N	"" []	Orphanet:371183	"" []	77116	\N	\N	EFO	0	EFO	Congenital disorder of glycosylation with cardiac malformation as a major feature	Congenital disorder of glycosylation with cardiac malformation as a major feature
Orphanet:156532	Orphanet:371183	\N	"" []	Orphanet:371183	"" []	220630	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Congenital disorder of glycosylation with cardiac malformation as a major feature
Orphanet:371235	Orphanet:371183	\N	"" []	Orphanet:371183	"" []	220631	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with developmental anomaly	Congenital disorder of glycosylation with cardiac malformation as a major feature
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:371183	"" []	576375	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Congenital disorder of glycosylation with cardiac malformation as a major feature
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:371183	"" []	576376	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Congenital disorder of glycosylation with cardiac malformation as a major feature
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371183	"" []	1159513	\N	\N	EFO	3	EFO	genetic disorder	Congenital disorder of glycosylation with cardiac malformation as a major feature
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:371183	"" []	1159514	\N	\N	EFO	3	EFO	heart disease	Congenital disorder of glycosylation with cardiac malformation as a major feature
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:371183	"" []	1159515	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital disorder of glycosylation with cardiac malformation as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371183	"" []	3193113	\N	\N	EFO	5	EFO	disease	Congenital disorder of glycosylation with cardiac malformation as a major feature
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:371183	"" []	2042864	\N	\N	EFO	4	EFO	cardiovascular disease	Congenital disorder of glycosylation with cardiac malformation as a major feature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371183	"" []	2042865	\N	\N	EFO	4	EFO	genetic disorder	Congenital disorder of glycosylation with cardiac malformation as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371183	"" []	4134037	\N	\N	EFO	6	EFO	disposition	Congenital disorder of glycosylation with cardiac malformation as a major feature
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371183	"" []	3193112	\N	\N	EFO	5	EFO	disease	Congenital disorder of glycosylation with cardiac malformation as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371183	"" []	5182914	\N	\N	EFO	7	EFO	material property	Congenital disorder of glycosylation with cardiac malformation as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371183	"" []	5998283	\N	\N	EFO	8	EFO	experimental factor	Congenital disorder of glycosylation with cardiac malformation as a major feature
Orphanet:371188	\N	\N	"" []	Orphanet:371188	"" []	77117	\N	\N	EFO	0	EFO	Congenital disorder of glycosylation with intestinal involvement	Congenital disorder of glycosylation with intestinal involvement
Orphanet:104013	Orphanet:371188	\N	"" []	Orphanet:371188	"" []	220632	\N	\N	EFO	1	EFO	Metabolic disease with intestinal involvement	Congenital disorder of glycosylation with intestinal involvement
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:371188	"" []	576377	\N	\N	EFO	2	EFO	Genetic intestinal disease	Congenital disorder of glycosylation with intestinal involvement
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:371188	"" []	1159516	\N	\N	EFO	3	EFO	digestive system disease	Congenital disorder of glycosylation with intestinal involvement
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:371188	"" []	1159517	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Congenital disorder of glycosylation with intestinal involvement
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371188	"" []	2042866	\N	\N	EFO	4	EFO	disease	Congenital disorder of glycosylation with intestinal involvement
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371188	"" []	2042867	\N	\N	EFO	4	EFO	genetic disorder	Congenital disorder of glycosylation with intestinal involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371188	"" []	4399479	\N	\N	EFO	6	EFO	disposition	Congenital disorder of glycosylation with intestinal involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371188	"" []	3193115	\N	\N	EFO	5	EFO	disease	Congenital disorder of glycosylation with intestinal involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371188	"" []	5182915	\N	\N	EFO	7	EFO	material property	Congenital disorder of glycosylation with intestinal involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371188	"" []	5998284	\N	\N	EFO	8	EFO	experimental factor	Congenital disorder of glycosylation with intestinal involvement
Orphanet:371195	\N	\N	"" []	Orphanet:371195	"" []	77118	\N	\N	EFO	0	EFO	Congenital disorder of glycosylation-related bone disorder	Congenital disorder of glycosylation-related bone disorder
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:371195	"" []	220633	\N	\N	EFO	1	EFO	Rare bone disease related to a common gene or pathway defect	Congenital disorder of glycosylation-related bone disorder
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:371195	"" []	220634	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with developmental anomaly	Congenital disorder of glycosylation-related bone disorder
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:371195	"" []	576378	\N	\N	EFO	2	EFO	Rare genetic bone disease	Congenital disorder of glycosylation-related bone disorder
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:371195	"" []	576379	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Congenital disorder of glycosylation-related bone disorder
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371195	"" []	1159518	\N	\N	EFO	3	EFO	genetic disorder	Congenital disorder of glycosylation-related bone disorder
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:371195	"" []	1159519	\N	\N	EFO	3	EFO	bone disease	Congenital disorder of glycosylation-related bone disorder
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:371195	"" []	1159520	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital disorder of glycosylation-related bone disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371195	"" []	3193118	\N	\N	EFO	5	EFO	disease	Congenital disorder of glycosylation-related bone disorder
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:371195	"" []	2042869	\N	\N	EFO	4	EFO	skeletal system disease	Congenital disorder of glycosylation-related bone disorder
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371195	"" []	2042870	\N	\N	EFO	4	EFO	genetic disorder	Congenital disorder of glycosylation-related bone disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371195	"" []	4134038	\N	\N	EFO	6	EFO	disposition	Congenital disorder of glycosylation-related bone disorder
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371195	"" []	3193117	\N	\N	EFO	5	EFO	disease	Congenital disorder of glycosylation-related bone disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371195	"" []	5182916	\N	\N	EFO	7	EFO	material property	Congenital disorder of glycosylation-related bone disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371195	"" []	5998285	\N	\N	EFO	8	EFO	experimental factor	Congenital disorder of glycosylation-related bone disorder
Orphanet:371200	\N	\N	"" []	Orphanet:371200	"" []	77119	\N	\N	EFO	0	EFO	Congenital disorder of glycosylation with skin involvement	Congenital disorder of glycosylation with skin involvement
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:371200	"" []	220635	\N	\N	EFO	1	EFO	Metabolic disease with skin involvement	Congenital disorder of glycosylation with skin involvement
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:371200	"" []	576380	\N	\N	EFO	2	EFO	Rare genetic skin disease	Congenital disorder of glycosylation with skin involvement
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371200	"" []	1159521	\N	\N	EFO	3	EFO	genetic disorder	Congenital disorder of glycosylation with skin involvement
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:371200	"" []	1159522	\N	\N	EFO	3	EFO	skin disease	Congenital disorder of glycosylation with skin involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371200	"" []	2042871	\N	\N	EFO	4	EFO	disease	Congenital disorder of glycosylation with skin involvement
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371200	"" []	2042872	\N	\N	EFO	4	EFO	disease	Congenital disorder of glycosylation with skin involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371200	"" []	3193119	\N	\N	EFO	5	EFO	disposition	Congenital disorder of glycosylation with skin involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371200	"" []	4399481	\N	\N	EFO	6	EFO	material property	Congenital disorder of glycosylation with skin involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371200	"" []	5416431	\N	\N	EFO	7	EFO	experimental factor	Congenital disorder of glycosylation with skin involvement
Orphanet:371207	\N	\N	"" []	Orphanet:371207	"" []	77120	\N	\N	EFO	0	EFO	Congenital disorder of glycosylation with nephropathy as a major feature	Congenital disorder of glycosylation with nephropathy as a major feature
Orphanet:93593	Orphanet:371207	\N	"" []	Orphanet:371207	"" []	220636	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Congenital disorder of glycosylation with nephropathy as a major feature
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:371207	"" []	576381	\N	\N	EFO	2	EFO	Rare genetic renal disease	Congenital disorder of glycosylation with nephropathy as a major feature
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371207	"" []	1159523	\N	\N	EFO	3	EFO	genetic disorder	Congenital disorder of glycosylation with nephropathy as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371207	"" []	2042873	\N	\N	EFO	4	EFO	disease	Congenital disorder of glycosylation with nephropathy as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371207	"" []	3193120	\N	\N	EFO	5	EFO	disposition	Congenital disorder of glycosylation with nephropathy as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371207	"" []	4399482	\N	\N	EFO	6	EFO	material property	Congenital disorder of glycosylation with nephropathy as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371207	"" []	5416432	\N	\N	EFO	7	EFO	experimental factor	Congenital disorder of glycosylation with nephropathy as a major feature
Orphanet:371212	\N	\N	"" []	Orphanet:371212	"" []	77121	\N	\N	EFO	0	EFO	Congenital disorder of glycosylation with deafness as a major feature	Congenital disorder of glycosylation with deafness as a major feature
Orphanet:371235	Orphanet:371212	\N	"" []	Orphanet:371212	"" []	220637	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with developmental anomaly	Congenital disorder of glycosylation with deafness as a major feature
Orphanet:90642	Orphanet:371212	\N	"" []	Orphanet:371212	"" []	220638	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Congenital disorder of glycosylation with deafness as a major feature
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:371212	"" []	576382	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Congenital disorder of glycosylation with deafness as a major feature
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:371212	"" []	576383	\N	\N	EFO	2	EFO	Rare genetic deafness	Congenital disorder of glycosylation with deafness as a major feature
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:371212	"" []	1159524	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital disorder of glycosylation with deafness as a major feature
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371212	"" []	1159525	\N	\N	EFO	3	EFO	genetic disorder	Congenital disorder of glycosylation with deafness as a major feature
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:371212	"" []	1159526	\N	\N	EFO	3	EFO	auditory system disease	Congenital disorder of glycosylation with deafness as a major feature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371212	"" []	2042874	\N	\N	EFO	4	EFO	genetic disorder	Congenital disorder of glycosylation with deafness as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371212	"" []	3193121	\N	\N	EFO	5	EFO	disease	Congenital disorder of glycosylation with deafness as a major feature
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:371212	"" []	2042876	\N	\N	EFO	4	EFO	sensory system disease	Congenital disorder of glycosylation with deafness as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371212	"" []	5416434	\N	\N	EFO	7	EFO	disposition	Congenital disorder of glycosylation with deafness as a major feature
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:371212	"" []	3193123	\N	\N	EFO	5	EFO	nervous system disease	Congenital disorder of glycosylation with deafness as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371212	"" []	5877490	\N	\N	EFO	8	EFO	material property	Congenital disorder of glycosylation with deafness as a major feature
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371212	"" []	4399484	\N	\N	EFO	6	EFO	disease	Congenital disorder of glycosylation with deafness as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371212	"" []	6470724	\N	\N	EFO	9	EFO	experimental factor	Congenital disorder of glycosylation with deafness as a major feature
Orphanet:371235	\N	\N	"" []	Orphanet:371235	"" []	77122	\N	\N	EFO	0	EFO	Congenital disorder of glycosylation with developmental anomaly	Congenital disorder of glycosylation with developmental anomaly
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:371235	"" []	220639	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Congenital disorder of glycosylation with developmental anomaly
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:371235	"" []	576384	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Congenital disorder of glycosylation with developmental anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371235	"" []	1159527	\N	\N	EFO	3	EFO	genetic disorder	Congenital disorder of glycosylation with developmental anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371235	"" []	2042877	\N	\N	EFO	4	EFO	disease	Congenital disorder of glycosylation with developmental anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371235	"" []	3193124	\N	\N	EFO	5	EFO	disposition	Congenital disorder of glycosylation with developmental anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371235	"" []	4399485	\N	\N	EFO	6	EFO	material property	Congenital disorder of glycosylation with developmental anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371235	"" []	5416435	\N	\N	EFO	7	EFO	experimental factor	Congenital disorder of glycosylation with developmental anomaly
Orphanet:371364	\N	\N	"" []	Orphanet:371364	"" []	77123	\N	\N	EFO	0	EFO	Hypotonia-speech impairment-severe cognitive delay syndrome	Hypotonia-speech impairment-severe cognitive delay syndrome
Orphanet:102283	Orphanet:371364	\N	"" []	Orphanet:371364	"" []	220640	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Hypotonia-speech impairment-severe cognitive delay syndrome
Orphanet:183500	Orphanet:371364	\N	"" []	Orphanet:371364	"" []	220641	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Hypotonia-speech impairment-severe cognitive delay syndrome
Orphanet:183763	Orphanet:371364	\N	"" []	Orphanet:371364	"" []	220642	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hypotonia-speech impairment-severe cognitive delay syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:371364	"" []	576385	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hypotonia-speech impairment-severe cognitive delay syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:371364	"" []	576386	\N	\N	EFO	2	EFO	neurodegenerative disease	Hypotonia-speech impairment-severe cognitive delay syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:371364	"" []	576387	\N	\N	EFO	2	EFO	brain disease	Hypotonia-speech impairment-severe cognitive delay syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:371364	"" []	576388	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hypotonia-speech impairment-severe cognitive delay syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:371364	"" []	576389	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hypotonia-speech impairment-severe cognitive delay syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:371364	"" []	1159528	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypotonia-speech impairment-severe cognitive delay syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:371364	"" []	1159529	\N	\N	EFO	3	EFO	nervous system disease	Hypotonia-speech impairment-severe cognitive delay syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:371364	"" []	1159530	\N	\N	EFO	3	EFO	nervous system disease	Hypotonia-speech impairment-severe cognitive delay syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371364	"" []	2042881	\N	\N	EFO	4	EFO	genetic disorder	Hypotonia-speech impairment-severe cognitive delay syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:371364	"" []	1159532	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hypotonia-speech impairment-severe cognitive delay syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371364	"" []	2042878	\N	\N	EFO	4	EFO	genetic disorder	Hypotonia-speech impairment-severe cognitive delay syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371364	"" []	2042879	\N	\N	EFO	4	EFO	disease	Hypotonia-speech impairment-severe cognitive delay syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371364	"" []	3000348	\N	\N	EFO	5	EFO	disease	Hypotonia-speech impairment-severe cognitive delay syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371364	"" []	4134040	\N	\N	EFO	6	EFO	disposition	Hypotonia-speech impairment-severe cognitive delay syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371364	"" []	5182918	\N	\N	EFO	7	EFO	material property	Hypotonia-speech impairment-severe cognitive delay syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371364	"" []	5998287	\N	\N	EFO	8	EFO	experimental factor	Hypotonia-speech impairment-severe cognitive delay syndrome
Orphanet:371428	\N	\N	"" []	Orphanet:371428	"" []	77124	\N	\N	EFO	0	EFO	Multicentric osteolysis-nodulosis-arthropathy spectrum	Multicentric osteolysis-nodulosis-arthropathy spectrum
Orphanet:93449	Orphanet:371428	\N	"" []	Orphanet:371428	"" []	220643	\N	\N	EFO	1	EFO	Primary osteolysis	Multicentric osteolysis-nodulosis-arthropathy spectrum
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:371428	"" []	576390	\N	\N	EFO	2	EFO	Primary bone dysplasia	Multicentric osteolysis-nodulosis-arthropathy spectrum
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:371428	"" []	1159533	\N	\N	EFO	3	EFO	Rare genetic bone disease	Multicentric osteolysis-nodulosis-arthropathy spectrum
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:371428	"" []	1159534	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Multicentric osteolysis-nodulosis-arthropathy spectrum
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371428	"" []	2042882	\N	\N	EFO	4	EFO	genetic disorder	Multicentric osteolysis-nodulosis-arthropathy spectrum
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:371428	"" []	2042883	\N	\N	EFO	4	EFO	bone disease	Multicentric osteolysis-nodulosis-arthropathy spectrum
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:371428	"" []	2042884	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Multicentric osteolysis-nodulosis-arthropathy spectrum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371428	"" []	4399489	\N	\N	EFO	6	EFO	disease	Multicentric osteolysis-nodulosis-arthropathy spectrum
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:371428	"" []	3193127	\N	\N	EFO	5	EFO	skeletal system disease	Multicentric osteolysis-nodulosis-arthropathy spectrum
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371428	"" []	3193128	\N	\N	EFO	5	EFO	genetic disorder	Multicentric osteolysis-nodulosis-arthropathy spectrum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371428	"" []	5182919	\N	\N	EFO	7	EFO	disposition	Multicentric osteolysis-nodulosis-arthropathy spectrum
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371428	"" []	4399488	\N	\N	EFO	6	EFO	disease	Multicentric osteolysis-nodulosis-arthropathy spectrum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371428	"" []	5998288	\N	\N	EFO	8	EFO	material property	Multicentric osteolysis-nodulosis-arthropathy spectrum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371428	"" []	6551508	\N	\N	EFO	9	EFO	experimental factor	Multicentric osteolysis-nodulosis-arthropathy spectrum
Orphanet:371433	\N	\N	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	Orphanet:371433	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	77125	\N	\N	EFO	0	EFO	Genetic periodic paralysis	Genetic periodic paralysis
Orphanet:206634	Orphanet:371433	\N	"" []	Orphanet:371433	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	220644	\N	\N	EFO	1	EFO	Genetic skeletal muscle disease	Genetic periodic paralysis
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:371433	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	576391	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Genetic periodic paralysis
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:371433	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	1159535	\N	\N	EFO	3	EFO	muscular disease	Genetic periodic paralysis
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:371433	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	1159536	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Genetic periodic paralysis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:371433	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	2042885	\N	\N	EFO	4	EFO	skeletal system disease	Genetic periodic paralysis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371433	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	2042886	\N	\N	EFO	4	EFO	genetic disorder	Genetic periodic paralysis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371433	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	3193129	\N	\N	EFO	5	EFO	disease	Genetic periodic paralysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371433	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	3193130	\N	\N	EFO	5	EFO	disease	Genetic periodic paralysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371433	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	4399490	\N	\N	EFO	6	EFO	disposition	Genetic periodic paralysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371433	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	5416438	\N	\N	EFO	7	EFO	material property	Genetic periodic paralysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371433	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	6151932	\N	\N	EFO	8	EFO	experimental factor	Genetic periodic paralysis
Orphanet:371436	\N	\N	"" []	Orphanet:371436	"" []	77126	\N	\N	EFO	0	EFO	Genetic neurovascular malformation	Genetic neurovascular malformation
Orphanet:183503	Orphanet:371436	\N	"" []	Orphanet:371436	"" []	220645	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Genetic neurovascular malformation
Orphanet:211240	Orphanet:371436	\N	"" []	Orphanet:371436	"" []	220646	\N	\N	EFO	1	EFO	Genetic vascular anomaly	Genetic neurovascular malformation
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:371436	"" []	576392	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Genetic neurovascular malformation
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:371436	"" []	576393	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Genetic neurovascular malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371436	"" []	1159537	\N	\N	EFO	3	EFO	genetic disorder	Genetic neurovascular malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371436	"" []	1159538	\N	\N	EFO	3	EFO	genetic disorder	Genetic neurovascular malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371436	"" []	2042887	\N	\N	EFO	4	EFO	disease	Genetic neurovascular malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371436	"" []	3193131	\N	\N	EFO	5	EFO	disposition	Genetic neurovascular malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371436	"" []	4399491	\N	\N	EFO	6	EFO	material property	Genetic neurovascular malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371436	"" []	5416439	\N	\N	EFO	7	EFO	experimental factor	Genetic neurovascular malformation
Orphanet:371439	\N	\N	"" []	Orphanet:371439	"" []	77127	\N	\N	EFO	0	EFO	Genetic cerebrovascular dementia	Genetic cerebrovascular dementia
EFO:0003763	Orphanet:371439	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	Orphanet:371439	"" []	220647	\N	\N	EFO	1	EFO	cerebrovascular disorder	Genetic cerebrovascular dementia
Orphanet:158124	Orphanet:371439	\N	"" []	Orphanet:371439	"" []	220648	\N	\N	EFO	1	EFO	Genetic dementia	Genetic cerebrovascular dementia
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:371439	"" []	576394	\N	\N	EFO	2	EFO	vascular disease	Genetic cerebrovascular dementia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:371439	"" []	576395	\N	\N	EFO	2	EFO	brain disease	Genetic cerebrovascular dementia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:371439	"" []	576396	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Genetic cerebrovascular dementia
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:371439	"" []	1159539	\N	\N	EFO	3	EFO	cardiovascular disease	Genetic cerebrovascular dementia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:371439	"" []	1159540	\N	\N	EFO	3	EFO	nervous system disease	Genetic cerebrovascular dementia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371439	"" []	1159541	\N	\N	EFO	3	EFO	genetic disorder	Genetic cerebrovascular dementia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371439	"" []	2042888	\N	\N	EFO	4	EFO	disease	Genetic cerebrovascular dementia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371439	"" []	2042889	\N	\N	EFO	4	EFO	disease	Genetic cerebrovascular dementia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371439	"" []	2042890	\N	\N	EFO	4	EFO	disease	Genetic cerebrovascular dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371439	"" []	3193132	\N	\N	EFO	5	EFO	disposition	Genetic cerebrovascular dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371439	"" []	4399492	\N	\N	EFO	6	EFO	material property	Genetic cerebrovascular dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371439	"" []	5416440	\N	\N	EFO	7	EFO	experimental factor	Genetic cerebrovascular dementia
Orphanet:371445	\N	\N	"" []	Orphanet:371445	"" []	77128	\N	\N	EFO	0	EFO	Genetic syndromic esophageal malformation	Genetic syndromic esophageal malformation
Orphanet:88993	Orphanet:371445	\N	"" []	Orphanet:371445	"" []	220649	\N	\N	EFO	1	EFO	Esophageal malformation	Genetic syndromic esophageal malformation
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:371445	"" []	576397	\N	\N	EFO	2	EFO	Genetic digestive tract malformation	Genetic syndromic esophageal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:371445	"" []	1159542	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Genetic syndromic esophageal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371445	"" []	2042891	\N	\N	EFO	4	EFO	genetic disorder	Genetic syndromic esophageal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371445	"" []	3193133	\N	\N	EFO	5	EFO	disease	Genetic syndromic esophageal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371445	"" []	4399493	\N	\N	EFO	6	EFO	disposition	Genetic syndromic esophageal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371445	"" []	5416441	\N	\N	EFO	7	EFO	material property	Genetic syndromic esophageal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371445	"" []	6151933	\N	\N	EFO	8	EFO	experimental factor	Genetic syndromic esophageal malformation
Orphanet:371861	\N	\N	"" []	Orphanet:371861	"" []	77129	\N	\N	EFO	0	EFO	Genetic hyperaldosteronism	Genetic hyperaldosteronism
Orphanet:183637	Orphanet:371861	\N	"" []	Orphanet:371861	"" []	220650	\N	\N	EFO	1	EFO	Rare genetic adrenal disease	Genetic hyperaldosteronism
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:371861	"" []	576398	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Genetic hyperaldosteronism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:371861	"" []	1159543	\N	\N	EFO	3	EFO	genetic disorder	Genetic hyperaldosteronism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:371861	"" []	1159544	\N	\N	EFO	3	EFO	endocrine system disease	Genetic hyperaldosteronism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371861	"" []	2042892	\N	\N	EFO	4	EFO	disease	Genetic hyperaldosteronism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:371861	"" []	2042893	\N	\N	EFO	4	EFO	disease	Genetic hyperaldosteronism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:371861	"" []	3193134	\N	\N	EFO	5	EFO	disposition	Genetic hyperaldosteronism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:371861	"" []	4399494	\N	\N	EFO	6	EFO	material property	Genetic hyperaldosteronism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:371861	"" []	5416442	\N	\N	EFO	7	EFO	experimental factor	Genetic hyperaldosteronism
Orphanet:373	\N	\N	"" []	Orphanet:373	"" []	77130	\N	\N	EFO	0	EFO	Simpson-Golabi-Behmel syndrome	Simpson-Golabi-Behmel syndrome
Orphanet:102283	Orphanet:373	\N	"" []	Orphanet:373	"" []	220651	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Simpson-Golabi-Behmel syndrome
Orphanet:156207	Orphanet:373	\N	"" []	Orphanet:373	"" []	220652	\N	\N	EFO	1	EFO	Macroglossia	Simpson-Golabi-Behmel syndrome
Orphanet:156237	Orphanet:373	\N	"" []	Orphanet:373	"" []	220653	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Simpson-Golabi-Behmel syndrome
Orphanet:183422	Orphanet:373	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:373	"" []	220654	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Simpson-Golabi-Behmel syndrome
Orphanet:93460	Orphanet:373	\N	"" []	Orphanet:373	"" []	220655	\N	\N	EFO	1	EFO	Overgrowth syndrome	Simpson-Golabi-Behmel syndrome
Orphanet:93547	Orphanet:373	\N	"" []	Orphanet:373	"" []	220656	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Simpson-Golabi-Behmel syndrome
Orphanet:98464	Orphanet:373	\N	"" []	Orphanet:373	"" []	220657	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Simpson-Golabi-Behmel syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:373	"" []	576399	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Simpson-Golabi-Behmel syndrome
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:373	"" []	576400	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Simpson-Golabi-Behmel syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:373	"" []	576401	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Simpson-Golabi-Behmel syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:373	"" []	576402	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Simpson-Golabi-Behmel syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:373	"" []	576403	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Simpson-Golabi-Behmel syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:373	"" []	576404	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Simpson-Golabi-Behmel syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:373	"" []	576405	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Simpson-Golabi-Behmel syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:373	"" []	1159545	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Simpson-Golabi-Behmel syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:373	"" []	2042895	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Simpson-Golabi-Behmel syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:373	"" []	1159547	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Simpson-Golabi-Behmel syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:373	"" []	1159548	\N	\N	EFO	3	EFO	genetic disorder	Simpson-Golabi-Behmel syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:373	"" []	1159549	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Simpson-Golabi-Behmel syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:373	"" []	1159550	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Simpson-Golabi-Behmel syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:373	"" []	1159551	\N	\N	EFO	3	EFO	Rare genetic renal disease	Simpson-Golabi-Behmel syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:373	"" []	1159552	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Simpson-Golabi-Behmel syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:373	"" []	3000349	\N	\N	EFO	5	EFO	genetic disorder	Simpson-Golabi-Behmel syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:373	"" []	4134041	\N	\N	EFO	6	EFO	disease	Simpson-Golabi-Behmel syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:373	"" []	2042897	\N	\N	EFO	4	EFO	genetic disorder	Simpson-Golabi-Behmel syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:373	"" []	2042898	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Simpson-Golabi-Behmel syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:373	"" []	5060083	\N	\N	EFO	7	EFO	disposition	Simpson-Golabi-Behmel syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:373	"" []	3193137	\N	\N	EFO	5	EFO	genetic disorder	Simpson-Golabi-Behmel syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:373	"" []	5877491	\N	\N	EFO	8	EFO	material property	Simpson-Golabi-Behmel syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:373	"" []	6470725	\N	\N	EFO	9	EFO	experimental factor	Simpson-Golabi-Behmel syndrome
Orphanet:374	\N	\N	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	77131	\N	\N	EFO	0	EFO	Goldenhar syndrome	Goldenhar syndrome
Orphanet:108987	Orphanet:374	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	220658	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Goldenhar syndrome
Orphanet:138050	Orphanet:374	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	220659	\N	\N	EFO	1	EFO	Pierre Robin syndrome associated with branchial archs anomalies	Goldenhar syndrome
Orphanet:141132	Orphanet:374	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	220660	\N	\N	EFO	1	EFO	Oculo-auriculo-vertebral spectrum	Goldenhar syndrome
Orphanet:183576	Orphanet:374	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	220661	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Goldenhar syndrome
Orphanet:330206	Orphanet:374	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	220662	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Goldenhar syndrome
Orphanet:93453	Orphanet:374	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	220663	\N	\N	EFO	1	EFO	Dysostosis with predominant craniofacial involvement	Goldenhar syndrome
Orphanet:98566	Orphanet:374	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	220664	\N	\N	EFO	1	EFO	Syndromic palpebral coloboma	Goldenhar syndrome
Orphanet:98617	Orphanet:374	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	220665	\N	\N	EFO	1	EFO	Bulbar conjunctival dermoid or conjunctival dermolipoma	Goldenhar syndrome
Orphanet:98628	Orphanet:374	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	220666	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	Goldenhar syndrome
Orphanet:98655	Orphanet:374	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	220667	\N	\N	EFO	1	EFO	Lens shape anomaly	Goldenhar syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	576406	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Goldenhar syndrome
Orphanet:363294	Orphanet:138050	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	576407	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Goldenhar syndrome
Orphanet:155896	Orphanet:141132	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	576408	\N	\N	EFO	2	EFO	Otomandibular dysplasia	Goldenhar syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	576409	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Goldenhar syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	576410	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Goldenhar syndrome
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	576411	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Goldenhar syndrome
Orphanet:98564	Orphanet:98566	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	576412	\N	\N	EFO	2	EFO	Eyelid border anomaly	Goldenhar syndrome
Orphanet:98616	Orphanet:98617	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	576413	\N	\N	EFO	2	EFO	Conjunctival tumor	Goldenhar syndrome
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	576414	\N	\N	EFO	2	EFO	Corneal dystrophy	Goldenhar syndrome
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	576415	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Goldenhar syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	1159553	\N	\N	EFO	3	EFO	Rare genetic eye disease	Goldenhar syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	1159554	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Goldenhar syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	1159555	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Goldenhar syndrome
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	1159556	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Goldenhar syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	5182921	\N	\N	EFO	7	EFO	genetic disorder	Goldenhar syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	1159558	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Goldenhar syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	1159559	\N	\N	EFO	3	EFO	Rare genetic bone disease	Goldenhar syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	1159560	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Goldenhar syndrome
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	1159561	\N	\N	EFO	3	EFO	Eyelid malformation	Goldenhar syndrome
Orphanet:98610	Orphanet:98616	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	1159562	\N	\N	EFO	3	EFO	Rare conjunctival disease	Goldenhar syndrome
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	1159563	\N	\N	EFO	3	EFO	Rare genetic eye disease	Goldenhar syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	1159564	\N	\N	EFO	3	EFO	Rare genetic eye disease	Goldenhar syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	5182923	\N	\N	EFO	7	EFO	genetic disorder	Goldenhar syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	5182924	\N	\N	EFO	7	EFO	eye disease	Goldenhar syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	2042902	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Goldenhar syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	3193139	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Goldenhar syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	5801867	\N	\N	EFO	8	EFO	disease	Goldenhar syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	2042905	\N	\N	EFO	4	EFO	genetic disorder	Goldenhar syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	2042906	\N	\N	EFO	4	EFO	bone disease	Goldenhar syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	2042907	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Goldenhar syndrome
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	2042908	\N	\N	EFO	4	EFO	Rare palpebral disease	Goldenhar syndrome
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	2042909	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Goldenhar syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	5817748	\N	\N	EFO	8	EFO	disease	Goldenhar syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	4134043	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Goldenhar syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	6378946	\N	\N	EFO	9	EFO	disposition	Goldenhar syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	3193142	\N	\N	EFO	5	EFO	skeletal system disease	Goldenhar syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	3193144	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Goldenhar syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	4399499	\N	\N	EFO	6	EFO	Rare genetic eye disease	Goldenhar syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	6778773	\N	\N	EFO	10	EFO	material property	Goldenhar syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	4399498	\N	\N	EFO	6	EFO	disease	Goldenhar syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:374	"Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." []	7029970	\N	\N	EFO	11	EFO	experimental factor	Goldenhar syndrome
Orphanet:37553	\N	\N	"" []	Orphanet:37553	"" []	77132	\N	\N	EFO	0	EFO	Cardiodysrhythmic potassium-sensitive periodic paralysis	Cardiodysrhythmic potassium-sensitive periodic paralysis
Orphanet:101934	Orphanet:37553	\N	"" []	Orphanet:37553	"" []	220668	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Cardiodysrhythmic potassium-sensitive periodic paralysis
Orphanet:352298	Orphanet:37553	\N	"" []	Orphanet:37553	"" []	220669	\N	\N	EFO	1	EFO	Genetic muscular channelopathy	Cardiodysrhythmic potassium-sensitive periodic paralysis
Orphanet:371433	Orphanet:37553	\N	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	Orphanet:37553	"" []	220670	\N	\N	EFO	1	EFO	Genetic periodic paralysis	Cardiodysrhythmic potassium-sensitive periodic paralysis
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:37553	"" []	576416	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Cardiodysrhythmic potassium-sensitive periodic paralysis
Orphanet:183497	Orphanet:352298	\N	"" []	Orphanet:37553	"" []	576417	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Cardiodysrhythmic potassium-sensitive periodic paralysis
Orphanet:206634	Orphanet:371433	\N	"" []	Orphanet:37553	"" []	576418	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Cardiodysrhythmic potassium-sensitive periodic paralysis
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:37553	"" []	1159565	\N	\N	EFO	3	EFO	genetic disorder	Cardiodysrhythmic potassium-sensitive periodic paralysis
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:37553	"" []	1159566	\N	\N	EFO	3	EFO	heart disease	Cardiodysrhythmic potassium-sensitive periodic paralysis
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:37553	"" []	2042914	\N	\N	EFO	4	EFO	muscular disease	Cardiodysrhythmic potassium-sensitive periodic paralysis
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:37553	"" []	2042915	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cardiodysrhythmic potassium-sensitive periodic paralysis
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:37553	"" []	1159569	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Cardiodysrhythmic potassium-sensitive periodic paralysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:37553	"" []	4134047	\N	\N	EFO	6	EFO	disease	Cardiodysrhythmic potassium-sensitive periodic paralysis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:37553	"" []	2042911	\N	\N	EFO	4	EFO	cardiovascular disease	Cardiodysrhythmic potassium-sensitive periodic paralysis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:37553	"" []	3000351	\N	\N	EFO	5	EFO	skeletal system disease	Cardiodysrhythmic potassium-sensitive periodic paralysis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:37553	"" []	3000352	\N	\N	EFO	5	EFO	genetic disorder	Cardiodysrhythmic potassium-sensitive periodic paralysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:37553	"" []	5060086	\N	\N	EFO	7	EFO	disposition	Cardiodysrhythmic potassium-sensitive periodic paralysis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:37553	"" []	3193147	\N	\N	EFO	5	EFO	disease	Cardiodysrhythmic potassium-sensitive periodic paralysis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:37553	"" []	4134046	\N	\N	EFO	6	EFO	disease	Cardiodysrhythmic potassium-sensitive periodic paralysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:37553	"" []	5877493	\N	\N	EFO	8	EFO	material property	Cardiodysrhythmic potassium-sensitive periodic paralysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:37553	"" []	6470727	\N	\N	EFO	9	EFO	experimental factor	Cardiodysrhythmic potassium-sensitive periodic paralysis
Orphanet:376	\N	\N	"" []	Orphanet:376	"" []	77133	\N	\N	EFO	0	EFO	Gordon syndrome	Gordon syndrome
Orphanet:139039	Orphanet:376	\N	"" []	Orphanet:376	"" []	220671	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Gordon syndrome
Orphanet:330206	Orphanet:376	\N	"" []	Orphanet:376	"" []	220672	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Gordon syndrome
Orphanet:97120	Orphanet:376	\N	"" []	Orphanet:376	"" []	220673	\N	\N	EFO	1	EFO	Distal arthrogryposis	Gordon syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:376	"" []	576419	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Gordon syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:376	"" []	576420	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Gordon syndrome
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:376	"" []	576421	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Gordon syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:376	"" []	1159570	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Gordon syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:376	"" []	1159571	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Gordon syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:376	"" []	1159572	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Gordon syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:376	"" []	2042916	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Gordon syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:376	"" []	4399503	\N	\N	EFO	6	EFO	genetic disorder	Gordon syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:376	"" []	2042918	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Gordon syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:376	"" []	3193150	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Gordon syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:376	"" []	5060087	\N	\N	EFO	7	EFO	disease	Gordon syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:376	"" []	3193152	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Gordon syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:376	"" []	5877494	\N	\N	EFO	8	EFO	disposition	Gordon syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:376	"" []	6470728	\N	\N	EFO	9	EFO	material property	Gordon syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:376	"" []	6848688	\N	\N	EFO	10	EFO	experimental factor	Gordon syndrome
Orphanet:37612	\N	\N	"Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." []	Orphanet:37612	"Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." []	77134	\N	\N	EFO	0	EFO	Episodic ataxia type 1	Episodic ataxia type 1
Orphanet:211062	Orphanet:37612	\N	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	Orphanet:37612	"Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." []	220674	\N	\N	EFO	1	EFO	Hereditary episodic ataxia	Episodic ataxia type 1
Orphanet:183518	Orphanet:211062	\N	"" []	Orphanet:37612	"Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." []	576422	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Episodic ataxia type 1
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:37612	"Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." []	1159573	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Episodic ataxia type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:37612	"Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." []	2042919	\N	\N	EFO	4	EFO	genetic disorder	Episodic ataxia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:37612	"Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." []	3193153	\N	\N	EFO	5	EFO	disease	Episodic ataxia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:37612	"Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." []	4399505	\N	\N	EFO	6	EFO	disposition	Episodic ataxia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:37612	"Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." []	5416447	\N	\N	EFO	7	EFO	material property	Episodic ataxia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:37612	"Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." []	6151935	\N	\N	EFO	8	EFO	experimental factor	Episodic ataxia type 1
Orphanet:376724	\N	\N	"" []	Orphanet:376724	"" []	77135	\N	\N	EFO	0	EFO	Generalized isolated dystonia	Generalized isolated dystonia
Orphanet:156159	Orphanet:376724	\N	"" []	Orphanet:376724	"" []	220675	\N	\N	EFO	1	EFO	Isolated dystonia	Generalized isolated dystonia
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:376724	"" []	576423	\N	\N	EFO	2	EFO	Rare genetic dystonia	Generalized isolated dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:376724	"" []	1159574	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Generalized isolated dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:376724	"" []	2042920	\N	\N	EFO	4	EFO	movement disorder	Generalized isolated dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:376724	"" []	2042921	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Generalized isolated dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:376724	"" []	3193154	\N	\N	EFO	5	EFO	nervous system disease	Generalized isolated dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:376724	"" []	3193155	\N	\N	EFO	5	EFO	genetic disorder	Generalized isolated dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:376724	"" []	4399506	\N	\N	EFO	6	EFO	disease	Generalized isolated dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:376724	"" []	4399507	\N	\N	EFO	6	EFO	disease	Generalized isolated dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:376724	"" []	5416448	\N	\N	EFO	7	EFO	disposition	Generalized isolated dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:376724	"" []	6151936	\N	\N	EFO	8	EFO	material property	Generalized isolated dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:376724	"" []	6633851	\N	\N	EFO	9	EFO	experimental factor	Generalized isolated dystonia
Orphanet:377	\N	\N	"" []	Orphanet:377	"" []	77136	\N	\N	EFO	0	EFO	Gorlin syndrome	Gorlin syndrome
Orphanet:140162	Orphanet:377	\N	"" []	Orphanet:377	"" []	220676	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Gorlin syndrome
Orphanet:183487	Orphanet:377	\N	"" []	Orphanet:377	"" []	220677	\N	\N	EFO	1	EFO	Genetic skin tumor	Gorlin syndrome
Orphanet:98196	Orphanet:377	\N	"" []	Orphanet:377	"" []	220678	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Gorlin syndrome
Orphanet:98584	Orphanet:377	\N	"" []	Orphanet:377	"" []	220679	\N	\N	EFO	1	EFO	Malignant tumor of palpebral epidermis	Gorlin syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:377	"" []	576424	\N	\N	EFO	2	EFO	genetic disorder	Gorlin syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:377	"" []	576425	\N	\N	EFO	2	EFO	skin neoplasm	Gorlin syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:377	"" []	576426	\N	\N	EFO	2	EFO	Rare genetic tumor	Gorlin syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:377	"" []	576427	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Gorlin syndrome
Orphanet:98580	Orphanet:98584	\N	"" []	Orphanet:377	"" []	576428	\N	\N	EFO	2	EFO	Palpebral tumor	Gorlin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:377	"" []	5416449	\N	\N	EFO	7	EFO	disease	Gorlin syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:377	"" []	1159576	\N	\N	EFO	3	EFO	neoplasm	Gorlin syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:377	"" []	1159577	\N	\N	EFO	3	EFO	skin disease	Gorlin syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:377	"" []	1159578	\N	\N	EFO	3	EFO	genetic disorder	Gorlin syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:377	"" []	1159579	\N	\N	EFO	3	EFO	neoplasm	Gorlin syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:377	"" []	1159580	\N	\N	EFO	3	EFO	genetic disorder	Gorlin syndrome
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:377	"" []	1159581	\N	\N	EFO	3	EFO	Rare palpebral disease	Gorlin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:377	"" []	5801868	\N	\N	EFO	8	EFO	disposition	Gorlin syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:377	"" []	2042923	\N	\N	EFO	4	EFO	disease	Gorlin syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:377	"" []	2042924	\N	\N	EFO	4	EFO	disease	Gorlin syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:377	"" []	2042926	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Gorlin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:377	"" []	6378947	\N	\N	EFO	9	EFO	material property	Gorlin syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:377	"" []	3193157	\N	\N	EFO	5	EFO	Rare genetic eye disease	Gorlin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:377	"" []	6778774	\N	\N	EFO	10	EFO	experimental factor	Gorlin syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:377	"" []	4399509	\N	\N	EFO	6	EFO	genetic disorder	Gorlin syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:377	"" []	4399510	\N	\N	EFO	6	EFO	eye disease	Gorlin syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:377	"" []	5416450	\N	\N	EFO	7	EFO	disease	Gorlin syndrome
Orphanet:379	\N	\N	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	77137	\N	\N	EFO	0	EFO	Chronic granulomatous disease	Chronic granulomatous disease
Orphanet:183494	Orphanet:379	\N	"" []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	220680	\N	\N	EFO	1	EFO	Genetic immune deficiency with skin involvement	Chronic granulomatous disease
Orphanet:183681	Orphanet:379	\N	"" []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	220681	\N	\N	EFO	1	EFO	Functional neutrophil defect	Chronic granulomatous disease
Orphanet:68346	Orphanet:183494	\N	"" []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	576429	\N	\N	EFO	2	EFO	Rare genetic skin disease	Chronic granulomatous disease
Orphanet:101988	Orphanet:183681	\N	"" []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	576430	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Chronic granulomatous disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	1159582	\N	\N	EFO	3	EFO	genetic disorder	Chronic granulomatous disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	1159583	\N	\N	EFO	3	EFO	skin disease	Chronic granulomatous disease
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	1159584	\N	\N	EFO	3	EFO	Primary immunodeficiency	Chronic granulomatous disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	4399512	\N	\N	EFO	6	EFO	disease	Chronic granulomatous disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	2042928	\N	\N	EFO	4	EFO	disease	Chronic granulomatous disease
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	2042929	\N	\N	EFO	4	EFO	Rare genetic immune disease	Chronic granulomatous disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	5060088	\N	\N	EFO	7	EFO	disposition	Chronic granulomatous disease
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	3193159	\N	\N	EFO	5	EFO	genetic disorder	Chronic granulomatous disease
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	3193160	\N	\N	EFO	5	EFO	immune system disease	Chronic granulomatous disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	5877495	\N	\N	EFO	8	EFO	material property	Chronic granulomatous disease
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	4399513	\N	\N	EFO	6	EFO	disease	Chronic granulomatous disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:379	"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." []	6470729	\N	\N	EFO	9	EFO	experimental factor	Chronic granulomatous disease
Orphanet:38	\N	\N	"" []	Orphanet:38	"" []	77138	\N	\N	EFO	0	EFO	Acrokeratoelastoidosis of Costa	Acrokeratoelastoidosis of Costa
Orphanet:183441	Orphanet:38	\N	"" []	Orphanet:38	"" []	220682	\N	\N	EFO	1	EFO	Genetic acrokeratoderma	Acrokeratoelastoidosis of Costa
Orphanet:307995	Orphanet:38	\N	"" []	Orphanet:38	"" []	220683	\N	\N	EFO	1	EFO	Marginal papular palmoplantar keratoderma	Acrokeratoelastoidosis of Costa
Orphanet:183426	Orphanet:183441	\N	"" []	Orphanet:38	"" []	576431	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Acrokeratoelastoidosis of Costa
Orphanet:2338	Orphanet:307995	\N	"" []	Orphanet:38	"" []	576432	\N	\N	EFO	2	EFO	Isolated punctate palmoplantar keratoderma	Acrokeratoelastoidosis of Costa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:38	"" []	4399516	\N	\N	EFO	6	EFO	Rare genetic skin disease	Acrokeratoelastoidosis of Costa
Orphanet:307967	Orphanet:2338	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:38	"" []	1159586	\N	\N	EFO	3	EFO	Punctate palmoplantar keratoderma	Acrokeratoelastoidosis of Costa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:38	"" []	5028447	\N	\N	EFO	7	EFO	genetic disorder	Acrokeratoelastoidosis of Costa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:38	"" []	5028448	\N	\N	EFO	7	EFO	skin disease	Acrokeratoelastoidosis of Costa
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:38	"" []	2042932	\N	\N	EFO	4	EFO	palmoplantar keratosis	Acrokeratoelastoidosis of Costa
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:38	"" []	2042933	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Acrokeratoelastoidosis of Costa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:38	"" []	5817750	\N	\N	EFO	8	EFO	disease	Acrokeratoelastoidosis of Costa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:38	"" []	5817751	\N	\N	EFO	8	EFO	disease	Acrokeratoelastoidosis of Costa
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:38	"" []	3193163	\N	\N	EFO	5	EFO	keratosis	Acrokeratoelastoidosis of Costa
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:38	"" []	3193164	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Acrokeratoelastoidosis of Costa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:38	"" []	6410222	\N	\N	EFO	9	EFO	disposition	Acrokeratoelastoidosis of Costa
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:38	"" []	4399515	\N	\N	EFO	6	EFO	skin disease	Acrokeratoelastoidosis of Costa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:38	"" []	6808054	\N	\N	EFO	10	EFO	material property	Acrokeratoelastoidosis of Costa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:38	"" []	7048750	\N	\N	EFO	11	EFO	experimental factor	Acrokeratoelastoidosis of Costa
Orphanet:380	\N	\N	"" []	Orphanet:380	"" []	77139	\N	\N	EFO	0	EFO	Greig cephalopolysyndactyly syndrome	Greig cephalopolysyndactyly syndrome
Orphanet:294959	Orphanet:380	\N	"" []	Orphanet:380	"" []	220684	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Greig cephalopolysyndactyly syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:380	"" []	576433	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Greig cephalopolysyndactyly syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:380	"" []	576434	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Greig cephalopolysyndactyly syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:380	"" []	1159587	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Greig cephalopolysyndactyly syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:380	"" []	1159588	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Greig cephalopolysyndactyly syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:380	"" []	2042934	\N	\N	EFO	4	EFO	Rare genetic bone disease	Greig cephalopolysyndactyly syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:380	"" []	2042935	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Greig cephalopolysyndactyly syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:380	"" []	2042936	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Greig cephalopolysyndactyly syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:380	"" []	3193165	\N	\N	EFO	5	EFO	genetic disorder	Greig cephalopolysyndactyly syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:380	"" []	3193166	\N	\N	EFO	5	EFO	bone disease	Greig cephalopolysyndactyly syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:380	"" []	3193167	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Greig cephalopolysyndactyly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:380	"" []	4399519	\N	\N	EFO	6	EFO	genetic disorder	Greig cephalopolysyndactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:380	"" []	5182927	\N	\N	EFO	7	EFO	disease	Greig cephalopolysyndactyly syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:380	"" []	4399518	\N	\N	EFO	6	EFO	skeletal system disease	Greig cephalopolysyndactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:380	"" []	5998292	\N	\N	EFO	8	EFO	disposition	Greig cephalopolysyndactyly syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:380	"" []	5416455	\N	\N	EFO	7	EFO	disease	Greig cephalopolysyndactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:380	"" []	6551509	\N	\N	EFO	9	EFO	material property	Greig cephalopolysyndactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:380	"" []	6889459	\N	\N	EFO	10	EFO	experimental factor	Greig cephalopolysyndactyly syndrome
Orphanet:381	\N	\N	"" []	Orphanet:381	"" []	77140	\N	\N	EFO	0	EFO	Griscelli disease	Griscelli disease
Orphanet:284811	Orphanet:381	\N	"" []	Orphanet:381	"" []	220685	\N	\N	EFO	1	EFO	Syndromic oculocutaneous albinism	Griscelli disease
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:381	"" []	576435	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Griscelli disease
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:381	"" []	576436	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Griscelli disease
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:381	"" []	1159589	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Griscelli disease
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:381	"" []	1159590	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Griscelli disease
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:381	"" []	2042937	\N	\N	EFO	4	EFO	Rare genetic skin disease	Griscelli disease
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:381	"" []	2042938	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Griscelli disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:381	"" []	3193169	\N	\N	EFO	5	EFO	genetic disorder	Griscelli disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:381	"" []	3193170	\N	\N	EFO	5	EFO	skin disease	Griscelli disease
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:381	"" []	3193171	\N	\N	EFO	5	EFO	Rare genetic eye disease	Griscelli disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:381	"" []	5416457	\N	\N	EFO	7	EFO	disease	Griscelli disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:381	"" []	4399521	\N	\N	EFO	6	EFO	disease	Griscelli disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:381	"" []	4399522	\N	\N	EFO	6	EFO	genetic disorder	Griscelli disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:381	"" []	4399523	\N	\N	EFO	6	EFO	eye disease	Griscelli disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:381	"" []	5998293	\N	\N	EFO	8	EFO	disposition	Griscelli disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:381	"" []	5416458	\N	\N	EFO	7	EFO	disease	Griscelli disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:381	"" []	6551510	\N	\N	EFO	9	EFO	material property	Griscelli disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:381	"" []	6889460	\N	\N	EFO	10	EFO	experimental factor	Griscelli disease
Orphanet:382	\N	\N	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	77141	\N	\N	EFO	0	EFO	Guanidinoacetate methyltransferase deficiency	Guanidinoacetate methyltransferase deficiency
Orphanet:182073	Orphanet:382	\N	"" []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	220686	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Guanidinoacetate methyltransferase deficiency
Orphanet:68385	Orphanet:382	\N	"" []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	220687	\N	\N	EFO	1	EFO	Neurometabolic disease	Guanidinoacetate methyltransferase deficiency
Orphanet:79172	Orphanet:382	\N	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	220688	\N	\N	EFO	1	EFO	Disorder of creatine biosynthesis	Guanidinoacetate methyltransferase deficiency
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	576437	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Guanidinoacetate methyltransferase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	576438	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Guanidinoacetate methyltransferase deficiency
Orphanet:79200	Orphanet:79172	\N	"" []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	576439	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Guanidinoacetate methyltransferase deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	1159591	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Guanidinoacetate methyltransferase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	3193172	\N	\N	EFO	5	EFO	genetic disorder	Guanidinoacetate methyltransferase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	1159593	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Guanidinoacetate methyltransferase deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	2042939	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Guanidinoacetate methyltransferase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	4066949	\N	\N	EFO	6	EFO	disease	Guanidinoacetate methyltransferase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	2042941	\N	\N	EFO	4	EFO	genetic disorder	Guanidinoacetate methyltransferase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	2042942	\N	\N	EFO	4	EFO	metabolic disease	Guanidinoacetate methyltransferase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	5060089	\N	\N	EFO	7	EFO	disposition	Guanidinoacetate methyltransferase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	3193175	\N	\N	EFO	5	EFO	disease	Guanidinoacetate methyltransferase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	5877497	\N	\N	EFO	8	EFO	material property	Guanidinoacetate methyltransferase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:382	"GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." []	6470731	\N	\N	EFO	9	EFO	experimental factor	Guanidinoacetate methyltransferase deficiency
Orphanet:383	\N	\N	"" []	Orphanet:383	"" []	77142	\N	\N	EFO	0	EFO	X-linked mixed deafness with perilymphatic gusher	X-linked mixed deafness with perilymphatic gusher
Orphanet:216445	Orphanet:383	\N	"" []	Orphanet:383	"" []	220689	\N	\N	EFO	1	EFO	Prelingual non-syndromic genetic deafness	X-linked mixed deafness with perilymphatic gusher
Orphanet:87884	Orphanet:216445	\N	"" []	Orphanet:383	"" []	576440	\N	\N	EFO	2	EFO	Non-syndromic genetic deafness	X-linked mixed deafness with perilymphatic gusher
Orphanet:96210	Orphanet:87884	\N	"" []	Orphanet:383	"" []	1159594	\N	\N	EFO	3	EFO	Rare genetic deafness	X-linked mixed deafness with perilymphatic gusher
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:383	"" []	2042943	\N	\N	EFO	4	EFO	genetic disorder	X-linked mixed deafness with perilymphatic gusher
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:383	"" []	2042944	\N	\N	EFO	4	EFO	auditory system disease	X-linked mixed deafness with perilymphatic gusher
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:383	"" []	3193176	\N	\N	EFO	5	EFO	disease	X-linked mixed deafness with perilymphatic gusher
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:383	"" []	3193177	\N	\N	EFO	5	EFO	sensory system disease	X-linked mixed deafness with perilymphatic gusher
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:383	"" []	6151941	\N	\N	EFO	8	EFO	disposition	X-linked mixed deafness with perilymphatic gusher
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:383	"" []	4399526	\N	\N	EFO	6	EFO	nervous system disease	X-linked mixed deafness with perilymphatic gusher
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:383	"" []	6470732	\N	\N	EFO	9	EFO	material property	X-linked mixed deafness with perilymphatic gusher
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:383	"" []	5416461	\N	\N	EFO	7	EFO	disease	X-linked mixed deafness with perilymphatic gusher
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:383	"" []	6848690	\N	\N	EFO	10	EFO	experimental factor	X-linked mixed deafness with perilymphatic gusher
Orphanet:384	\N	\N	"" []	Orphanet:384	"" []	77143	\N	\N	EFO	0	EFO	Palmoplantar keratoderma-sclerodactyly syndrome	Palmoplantar keratoderma-sclerodactyly syndrome
Orphanet:98352	Orphanet:384	\N	"" []	Orphanet:384	"" []	220690	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Palmoplantar keratoderma-sclerodactyly syndrome
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:384	"" []	576441	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Palmoplantar keratoderma-sclerodactyly syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:384	"" []	1159595	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Palmoplantar keratoderma-sclerodactyly syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:384	"" []	2042945	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Palmoplantar keratoderma-sclerodactyly syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:384	"" []	3193178	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Palmoplantar keratoderma-sclerodactyly syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:384	"" []	4399527	\N	\N	EFO	6	EFO	Rare genetic skin disease	Palmoplantar keratoderma-sclerodactyly syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:384	"" []	5416462	\N	\N	EFO	7	EFO	genetic disorder	Palmoplantar keratoderma-sclerodactyly syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:384	"" []	5416463	\N	\N	EFO	7	EFO	skin disease	Palmoplantar keratoderma-sclerodactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:384	"" []	6151942	\N	\N	EFO	8	EFO	disease	Palmoplantar keratoderma-sclerodactyly syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:384	"" []	6151943	\N	\N	EFO	8	EFO	disease	Palmoplantar keratoderma-sclerodactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:384	"" []	6633854	\N	\N	EFO	9	EFO	disposition	Palmoplantar keratoderma-sclerodactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:384	"" []	6926154	\N	\N	EFO	10	EFO	material property	Palmoplantar keratoderma-sclerodactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:384	"" []	7099294	\N	\N	EFO	11	EFO	experimental factor	Palmoplantar keratoderma-sclerodactyly syndrome
Orphanet:385	\N	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	77144	\N	\N	EFO	0	EFO	Neurodegeneration with brain iron accumulation	Neurodegeneration with brain iron accumulation
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	220691	\N	\N	EFO	1	EFO	Genetic dementia	Neurodegeneration with brain iron accumulation
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	220692	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Neurodegeneration with brain iron accumulation
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	220693	\N	\N	EFO	1	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Neurodegeneration with brain iron accumulation
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	220694	\N	\N	EFO	1	EFO	Neurometabolic disease	Neurodegeneration with brain iron accumulation
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	576442	\N	\N	EFO	2	EFO	brain disease	Neurodegeneration with brain iron accumulation
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	576443	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neurodegeneration with brain iron accumulation
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	576444	\N	\N	EFO	2	EFO	neurodegenerative disease	Neurodegeneration with brain iron accumulation
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	576445	\N	\N	EFO	2	EFO	brain disease	Neurodegeneration with brain iron accumulation
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	576446	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neurodegeneration with brain iron accumulation
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	576447	\N	\N	EFO	2	EFO	neurodegenerative disease	Neurodegeneration with brain iron accumulation
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	576448	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Neurodegeneration with brain iron accumulation
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	576449	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neurodegeneration with brain iron accumulation
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	1159596	\N	\N	EFO	3	EFO	nervous system disease	Neurodegeneration with brain iron accumulation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	2042949	\N	\N	EFO	4	EFO	genetic disorder	Neurodegeneration with brain iron accumulation
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	1159598	\N	\N	EFO	3	EFO	nervous system disease	Neurodegeneration with brain iron accumulation
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	1159599	\N	\N	EFO	3	EFO	movement disorder	Neurodegeneration with brain iron accumulation
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	1159600	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neurodegeneration with brain iron accumulation
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	3193180	\N	\N	EFO	5	EFO	disease	Neurodegeneration with brain iron accumulation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	3000354	\N	\N	EFO	5	EFO	disease	Neurodegeneration with brain iron accumulation
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	2042948	\N	\N	EFO	4	EFO	nervous system disease	Neurodegeneration with brain iron accumulation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	4134050	\N	\N	EFO	6	EFO	disposition	Neurodegeneration with brain iron accumulation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	5182929	\N	\N	EFO	7	EFO	material property	Neurodegeneration with brain iron accumulation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:385	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	5998295	\N	\N	EFO	8	EFO	experimental factor	Neurodegeneration with brain iron accumulation
Orphanet:388	\N	\N	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	77145	\N	\N	EFO	0	EFO	Hirschsprung disease	Hirschsprung disease
Orphanet:104009	Orphanet:388	\N	"" []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	220695	\N	\N	EFO	1	EFO	Congenital intestinal motility disorder	Hirschsprung disease
Orphanet:108967	Orphanet:388	\N	"" []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	220696	\N	\N	EFO	1	EFO	Non-syndromic intestinal malformation	Hirschsprung disease
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	576450	\N	\N	EFO	2	EFO	Genetic intestinal disease	Hirschsprung disease
Orphanet:97945	Orphanet:108967	\N	"" []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	576451	\N	\N	EFO	2	EFO	Intestinal malformation	Hirschsprung disease
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	1159601	\N	\N	EFO	3	EFO	digestive system disease	Hirschsprung disease
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	1159602	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Hirschsprung disease
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	1159603	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Hirschsprung disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	2042950	\N	\N	EFO	4	EFO	disease	Hirschsprung disease
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	2042951	\N	\N	EFO	4	EFO	genetic disorder	Hirschsprung disease
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	2042952	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hirschsprung disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	5182931	\N	\N	EFO	7	EFO	disposition	Hirschsprung disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	4399531	\N	\N	EFO	6	EFO	disease	Hirschsprung disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	3193183	\N	\N	EFO	5	EFO	genetic disorder	Hirschsprung disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	5877498	\N	\N	EFO	8	EFO	material property	Hirschsprung disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:388	"Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." []	6470733	\N	\N	EFO	9	EFO	experimental factor	Hirschsprung disease
Orphanet:38874	\N	\N	"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." []	Orphanet:38874	"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." []	77146	\N	\N	EFO	0	EFO	Dihydropyrimidinuria	Dihydropyrimidinuria
Orphanet:79193	Orphanet:38874	\N	"ANPM" []	Orphanet:38874	"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." []	220697	\N	\N	EFO	1	EFO	Disorder of pyrimidine metabolism	Dihydropyrimidinuria
Orphanet:79224	Orphanet:79193	\N	"" []	Orphanet:38874	"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." []	576452	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Dihydropyrimidinuria
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:38874	"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." []	1159604	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Dihydropyrimidinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:38874	"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." []	2042953	\N	\N	EFO	4	EFO	genetic disorder	Dihydropyrimidinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:38874	"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." []	2042954	\N	\N	EFO	4	EFO	metabolic disease	Dihydropyrimidinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:38874	"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." []	3193184	\N	\N	EFO	5	EFO	disease	Dihydropyrimidinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:38874	"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." []	3193185	\N	\N	EFO	5	EFO	disease	Dihydropyrimidinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:38874	"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." []	4399532	\N	\N	EFO	6	EFO	disposition	Dihydropyrimidinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:38874	"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." []	5416466	\N	\N	EFO	7	EFO	material property	Dihydropyrimidinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:38874	"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." []	6151944	\N	\N	EFO	8	EFO	experimental factor	Dihydropyrimidinuria
Orphanet:39041	\N	\N	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	Orphanet:39041	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	77147	\N	\N	EFO	0	EFO	Omenn syndrome	Omenn syndrome
Orphanet:101972	Orphanet:39041	\N	"" []	Orphanet:39041	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	220698	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Omenn syndrome
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:39041	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	576453	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Omenn syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:39041	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	1159605	\N	\N	EFO	3	EFO	Primary immunodeficiency	Omenn syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:39041	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	2042955	\N	\N	EFO	4	EFO	Rare genetic immune disease	Omenn syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:39041	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	3193186	\N	\N	EFO	5	EFO	genetic disorder	Omenn syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:39041	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	3193187	\N	\N	EFO	5	EFO	immune system disease	Omenn syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:39041	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	4399533	\N	\N	EFO	6	EFO	disease	Omenn syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:39041	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	4399534	\N	\N	EFO	6	EFO	disease	Omenn syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:39041	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	5416467	\N	\N	EFO	7	EFO	disposition	Omenn syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:39041	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	6151945	\N	\N	EFO	8	EFO	material property	Omenn syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:39041	"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." []	6633855	\N	\N	EFO	9	EFO	experimental factor	Omenn syndrome
Orphanet:391307	\N	\N	"" []	Orphanet:391307	"" []	77148	\N	\N	EFO	0	EFO	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Orphanet:102283	Orphanet:391307	\N	"" []	Orphanet:391307	"" []	220699	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Orphanet:183763	Orphanet:391307	\N	"" []	Orphanet:391307	"" []	220700	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:391307	"" []	576454	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:391307	"" []	576455	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:391307	"" []	1159606	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:391307	"" []	1159607	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391307	"" []	2042956	\N	\N	EFO	4	EFO	genetic disorder	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391307	"" []	2042957	\N	\N	EFO	4	EFO	genetic disorder	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391307	"" []	3193188	\N	\N	EFO	5	EFO	disease	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391307	"" []	4399535	\N	\N	EFO	6	EFO	disposition	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391307	"" []	5416468	\N	\N	EFO	7	EFO	material property	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391307	"" []	6151946	\N	\N	EFO	8	EFO	experimental factor	Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Orphanet:391311	\N	\N	"" []	Orphanet:391311	"" []	77149	\N	\N	EFO	0	EFO	Susceptibility to viral and mycobacterial infections	Susceptibility to viral and mycobacterial infections
Orphanet:183710	Orphanet:391311	\N	"" []	Orphanet:391311	"" []	220701	\N	\N	EFO	1	EFO	Genetic susceptibility to infections due to particular pathogens	Susceptibility to viral and mycobacterial infections
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:391311	"" []	576456	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Susceptibility to viral and mycobacterial infections
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:391311	"" []	1159608	\N	\N	EFO	3	EFO	Primary immunodeficiency	Susceptibility to viral and mycobacterial infections
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:391311	"" []	2042958	\N	\N	EFO	4	EFO	Rare genetic immune disease	Susceptibility to viral and mycobacterial infections
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391311	"" []	3193189	\N	\N	EFO	5	EFO	genetic disorder	Susceptibility to viral and mycobacterial infections
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:391311	"" []	3193190	\N	\N	EFO	5	EFO	immune system disease	Susceptibility to viral and mycobacterial infections
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391311	"" []	4399536	\N	\N	EFO	6	EFO	disease	Susceptibility to viral and mycobacterial infections
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391311	"" []	4399537	\N	\N	EFO	6	EFO	disease	Susceptibility to viral and mycobacterial infections
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391311	"" []	5416469	\N	\N	EFO	7	EFO	disposition	Susceptibility to viral and mycobacterial infections
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391311	"" []	6151947	\N	\N	EFO	8	EFO	material property	Susceptibility to viral and mycobacterial infections
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391311	"" []	6633856	\N	\N	EFO	9	EFO	experimental factor	Susceptibility to viral and mycobacterial infections
Orphanet:391316	\N	\N	"" []	Orphanet:391316	"" []	77150	\N	\N	EFO	0	EFO	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Orphanet:166472	Orphanet:391316	\N	"" []	Orphanet:391316	"" []	220702	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Orphanet:98258	Orphanet:391316	\N	"" []	Orphanet:391316	"" []	220703	\N	\N	EFO	1	EFO	Infantile epilepsy syndrome	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:391316	"" []	576457	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:391316	"" []	576458	\N	\N	EFO	2	EFO	Epilepsy syndrome	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:391316	"" []	2042960	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:391316	"" []	1159610	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391316	"" []	3000355	\N	\N	EFO	5	EFO	genetic disorder	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391316	"" []	4134051	\N	\N	EFO	6	EFO	disease	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391316	"" []	5182932	\N	\N	EFO	7	EFO	disposition	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391316	"" []	5998297	\N	\N	EFO	8	EFO	material property	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391316	"" []	6551511	\N	\N	EFO	9	EFO	experimental factor	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Orphanet:391320	\N	\N	"" []	Orphanet:391320	"" []	77151	\N	\N	EFO	0	EFO	East Texas bleeding disorder	East Texas bleeding disorder
Orphanet:68334	Orphanet:391320	\N	"" []	Orphanet:391320	"" []	220704	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	East Texas bleeding disorder
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:391320	"" []	576459	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	East Texas bleeding disorder
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:391320	"" []	1159611	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	East Texas bleeding disorder
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391320	"" []	2042961	\N	\N	EFO	4	EFO	genetic disorder	East Texas bleeding disorder
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:391320	"" []	2042962	\N	\N	EFO	4	EFO	hematological system disease	East Texas bleeding disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391320	"" []	3193192	\N	\N	EFO	5	EFO	disease	East Texas bleeding disorder
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391320	"" []	3193193	\N	\N	EFO	5	EFO	disease	East Texas bleeding disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391320	"" []	4399539	\N	\N	EFO	6	EFO	disposition	East Texas bleeding disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391320	"" []	5416471	\N	\N	EFO	7	EFO	material property	East Texas bleeding disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391320	"" []	6151949	\N	\N	EFO	8	EFO	experimental factor	East Texas bleeding disorder
Orphanet:391327	\N	\N	"" []	Orphanet:391327	"" []	77152	\N	\N	EFO	0	EFO	X-linked calvarial hyperostosis	X-linked calvarial hyperostosis
Orphanet:93444	Orphanet:391327	\N	"" []	Orphanet:391327	"" []	220705	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	X-linked calvarial hyperostosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:391327	"" []	576460	\N	\N	EFO	2	EFO	Primary bone dysplasia	X-linked calvarial hyperostosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:391327	"" []	1159612	\N	\N	EFO	3	EFO	Rare genetic bone disease	X-linked calvarial hyperostosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:391327	"" []	1159613	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	X-linked calvarial hyperostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391327	"" []	2042963	\N	\N	EFO	4	EFO	genetic disorder	X-linked calvarial hyperostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:391327	"" []	2042964	\N	\N	EFO	4	EFO	bone disease	X-linked calvarial hyperostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:391327	"" []	2042965	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked calvarial hyperostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391327	"" []	4399542	\N	\N	EFO	6	EFO	disease	X-linked calvarial hyperostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:391327	"" []	3193195	\N	\N	EFO	5	EFO	skeletal system disease	X-linked calvarial hyperostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391327	"" []	3193196	\N	\N	EFO	5	EFO	genetic disorder	X-linked calvarial hyperostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391327	"" []	5182933	\N	\N	EFO	7	EFO	disposition	X-linked calvarial hyperostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391327	"" []	4399541	\N	\N	EFO	6	EFO	disease	X-linked calvarial hyperostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391327	"" []	5998298	\N	\N	EFO	8	EFO	material property	X-linked calvarial hyperostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391327	"" []	6551512	\N	\N	EFO	9	EFO	experimental factor	X-linked calvarial hyperostosis
Orphanet:391330	\N	\N	"" []	Orphanet:391330	"" []	77153	\N	\N	EFO	0	EFO	X-linked osteoporosis with fractures	X-linked osteoporosis with fractures
Orphanet:93446	Orphanet:391330	\N	"" []	Orphanet:391330	"" []	220706	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	X-linked osteoporosis with fractures
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:391330	"" []	576461	\N	\N	EFO	2	EFO	Primary bone dysplasia	X-linked osteoporosis with fractures
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:391330	"" []	1159614	\N	\N	EFO	3	EFO	Rare genetic bone disease	X-linked osteoporosis with fractures
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:391330	"" []	1159615	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	X-linked osteoporosis with fractures
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391330	"" []	2042966	\N	\N	EFO	4	EFO	genetic disorder	X-linked osteoporosis with fractures
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:391330	"" []	2042967	\N	\N	EFO	4	EFO	bone disease	X-linked osteoporosis with fractures
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:391330	"" []	2042968	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked osteoporosis with fractures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391330	"" []	4399545	\N	\N	EFO	6	EFO	disease	X-linked osteoporosis with fractures
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:391330	"" []	3193198	\N	\N	EFO	5	EFO	skeletal system disease	X-linked osteoporosis with fractures
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391330	"" []	3193199	\N	\N	EFO	5	EFO	genetic disorder	X-linked osteoporosis with fractures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391330	"" []	5182934	\N	\N	EFO	7	EFO	disposition	X-linked osteoporosis with fractures
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391330	"" []	4399544	\N	\N	EFO	6	EFO	disease	X-linked osteoporosis with fractures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391330	"" []	5998299	\N	\N	EFO	8	EFO	material property	X-linked osteoporosis with fractures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391330	"" []	6551513	\N	\N	EFO	9	EFO	experimental factor	X-linked osteoporosis with fractures
Orphanet:391343	\N	\N	"" []	Orphanet:391343	"" []	77154	\N	\N	EFO	0	EFO	Fatal post-viral neurodegenerative disorder	Fatal post-viral neurodegenerative disorder
Orphanet:183500	Orphanet:391343	\N	"" []	Orphanet:391343	"" []	220707	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Fatal post-viral neurodegenerative disorder
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:391343	"" []	576462	\N	\N	EFO	2	EFO	neurodegenerative disease	Fatal post-viral neurodegenerative disorder
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:391343	"" []	576463	\N	\N	EFO	2	EFO	brain disease	Fatal post-viral neurodegenerative disorder
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:391343	"" []	576464	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Fatal post-viral neurodegenerative disorder
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:391343	"" []	1159616	\N	\N	EFO	3	EFO	nervous system disease	Fatal post-viral neurodegenerative disorder
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:391343	"" []	1159617	\N	\N	EFO	3	EFO	nervous system disease	Fatal post-viral neurodegenerative disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391343	"" []	1159618	\N	\N	EFO	3	EFO	genetic disorder	Fatal post-viral neurodegenerative disorder
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391343	"" []	2042969	\N	\N	EFO	4	EFO	disease	Fatal post-viral neurodegenerative disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391343	"" []	2042970	\N	\N	EFO	4	EFO	disease	Fatal post-viral neurodegenerative disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391343	"" []	3193200	\N	\N	EFO	5	EFO	disposition	Fatal post-viral neurodegenerative disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391343	"" []	4399546	\N	\N	EFO	6	EFO	material property	Fatal post-viral neurodegenerative disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391343	"" []	5416474	\N	\N	EFO	7	EFO	experimental factor	Fatal post-viral neurodegenerative disorder
Orphanet:391348	\N	\N	"" []	Orphanet:391348	"" []	77155	\N	\N	EFO	0	EFO	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Orphanet:254822	Orphanet:391348	\N	"" []	Orphanet:391348	"" []	220708	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder with no known mechanism	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Orphanet:68385	Orphanet:391348	\N	"" []	Orphanet:391348	"" []	220709	\N	\N	EFO	1	EFO	Neurometabolic disease	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Orphanet:2443	Orphanet:254822	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:391348	"" []	576465	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:391348	"" []	576466	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:391348	"" []	1159619	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391348	"" []	1159620	\N	\N	EFO	3	EFO	genetic disorder	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:391348	"" []	2042971	\N	\N	EFO	4	EFO	Mitochondrial disease	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391348	"" []	6151952	\N	\N	EFO	8	EFO	disease	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:391348	"" []	3193201	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:391348	"" []	3193202	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391348	"" []	6378948	\N	\N	EFO	9	EFO	disposition	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:391348	"" []	4399547	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:391348	"" []	4399548	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391348	"" []	6778775	\N	\N	EFO	10	EFO	material property	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391348	"" []	5416475	\N	\N	EFO	7	EFO	genetic disorder	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391348	"" []	5416476	\N	\N	EFO	7	EFO	genetic disorder	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:391348	"" []	5416477	\N	\N	EFO	7	EFO	metabolic disease	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391348	"" []	7029971	\N	\N	EFO	11	EFO	experimental factor	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391348	"" []	6151953	\N	\N	EFO	8	EFO	disease	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Orphanet:391351	\N	\N	"" []	Orphanet:391351	"" []	77156	\N	\N	EFO	0	EFO	SURF1-related Charcot-Marie-Tooth disease type 4	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:2443	Orphanet:391351	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:391351	"" []	220710	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:64749	Orphanet:391351	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:391351	"" []	220711	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 4	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:391351	"" []	576467	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:391351	"" []	576468	\N	\N	EFO	2	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:391351	"" []	576469	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:391351	"" []	1159621	\N	\N	EFO	3	EFO	Mitochondrial disease	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:391351	"" []	1159622	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:391351	"" []	1159623	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:391351	"" []	2042973	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:391351	"" []	2042974	\N	\N	EFO	4	EFO	Disorder of energy metabolism	SURF1-related Charcot-Marie-Tooth disease type 4
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:391351	"" []	2042975	\N	\N	EFO	4	EFO	motor neuron disease	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:391351	"" []	2042976	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:391351	"" []	3193207	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:391351	"" []	3193204	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:391351	"" []	3193205	\N	\N	EFO	5	EFO	Inborn errors of metabolism	SURF1-related Charcot-Marie-Tooth disease type 4
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:391351	"" []	3193206	\N	\N	EFO	5	EFO	neurodegenerative disease	SURF1-related Charcot-Marie-Tooth disease type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391351	"" []	4134052	\N	\N	EFO	6	EFO	genetic disorder	SURF1-related Charcot-Marie-Tooth disease type 4
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391351	"" []	4399550	\N	\N	EFO	6	EFO	genetic disorder	SURF1-related Charcot-Marie-Tooth disease type 4
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391351	"" []	4399551	\N	\N	EFO	6	EFO	genetic disorder	SURF1-related Charcot-Marie-Tooth disease type 4
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:391351	"" []	4399552	\N	\N	EFO	6	EFO	metabolic disease	SURF1-related Charcot-Marie-Tooth disease type 4
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:391351	"" []	4399553	\N	\N	EFO	6	EFO	nervous system disease	SURF1-related Charcot-Marie-Tooth disease type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391351	"" []	5182935	\N	\N	EFO	7	EFO	disease	SURF1-related Charcot-Marie-Tooth disease type 4
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391351	"" []	5416479	\N	\N	EFO	7	EFO	disease	SURF1-related Charcot-Marie-Tooth disease type 4
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391351	"" []	5416480	\N	\N	EFO	7	EFO	disease	SURF1-related Charcot-Marie-Tooth disease type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391351	"" []	5998300	\N	\N	EFO	8	EFO	disposition	SURF1-related Charcot-Marie-Tooth disease type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391351	"" []	6551514	\N	\N	EFO	9	EFO	material property	SURF1-related Charcot-Marie-Tooth disease type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391351	"" []	6889461	\N	\N	EFO	10	EFO	experimental factor	SURF1-related Charcot-Marie-Tooth disease type 4
Orphanet:391366	\N	\N	"" []	Orphanet:391366	"" []	77157	\N	\N	EFO	0	EFO	Growth retardation-mild developmental delay-chronic hepatitis syndrome	Growth retardation-mild developmental delay-chronic hepatitis syndrome
Orphanet:156604	Orphanet:391366	\N	"" []	Orphanet:391366	"" []	220712	\N	\N	EFO	1	EFO	Genetic parenchymatous liver disease	Growth retardation-mild developmental delay-chronic hepatitis syndrome
Orphanet:156601	Orphanet:156604	\N	"" []	Orphanet:391366	"" []	576470	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Growth retardation-mild developmental delay-chronic hepatitis syndrome
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:391366	"" []	1159624	\N	\N	EFO	3	EFO	digestive system disease	Growth retardation-mild developmental delay-chronic hepatitis syndrome
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391366	"" []	1159625	\N	\N	EFO	3	EFO	genetic disorder	Growth retardation-mild developmental delay-chronic hepatitis syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391366	"" []	2042978	\N	\N	EFO	4	EFO	disease	Growth retardation-mild developmental delay-chronic hepatitis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391366	"" []	2042979	\N	\N	EFO	4	EFO	disease	Growth retardation-mild developmental delay-chronic hepatitis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391366	"" []	3193209	\N	\N	EFO	5	EFO	disposition	Growth retardation-mild developmental delay-chronic hepatitis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391366	"" []	4399555	\N	\N	EFO	6	EFO	material property	Growth retardation-mild developmental delay-chronic hepatitis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391366	"" []	5416482	\N	\N	EFO	7	EFO	experimental factor	Growth retardation-mild developmental delay-chronic hepatitis syndrome
Orphanet:391372	\N	\N	"" []	Orphanet:391372	"" []	77158	\N	\N	EFO	0	EFO	Intellectual disability-severe speech delay-mild dysmorphism syndrome	Intellectual disability-severe speech delay-mild dysmorphism syndrome
Orphanet:183763	Orphanet:391372	\N	"" []	Orphanet:391372	"" []	220713	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability-severe speech delay-mild dysmorphism syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:391372	"" []	576471	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability-severe speech delay-mild dysmorphism syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:391372	"" []	1159626	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability-severe speech delay-mild dysmorphism syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391372	"" []	2042980	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-severe speech delay-mild dysmorphism syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391372	"" []	3193210	\N	\N	EFO	5	EFO	disease	Intellectual disability-severe speech delay-mild dysmorphism syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391372	"" []	4399556	\N	\N	EFO	6	EFO	disposition	Intellectual disability-severe speech delay-mild dysmorphism syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391372	"" []	5416483	\N	\N	EFO	7	EFO	material property	Intellectual disability-severe speech delay-mild dysmorphism syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391372	"" []	6151955	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability-severe speech delay-mild dysmorphism syndrome
Orphanet:391376	\N	\N	"" []	Orphanet:391376	"" []	77159	\N	\N	EFO	0	EFO	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Orphanet:391381	Orphanet:391376	\N	"" []	Orphanet:391376	"" []	220714	\N	\N	EFO	1	EFO	Disorder of asparagine metabolism	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Orphanet:68385	Orphanet:391376	\N	"" []	Orphanet:391376	"" []	220715	\N	\N	EFO	1	EFO	Neurometabolic disease	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Orphanet:79062	Orphanet:391381	\N	"" []	Orphanet:391376	"" []	576472	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:391376	"" []	576473	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:391376	"" []	1159627	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391376	"" []	1159628	\N	\N	EFO	3	EFO	genetic disorder	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391376	"" []	2042981	\N	\N	EFO	4	EFO	genetic disorder	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:391376	"" []	2042982	\N	\N	EFO	4	EFO	metabolic disease	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391376	"" []	3193211	\N	\N	EFO	5	EFO	disease	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391376	"" []	3193212	\N	\N	EFO	5	EFO	disease	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391376	"" []	4134053	\N	\N	EFO	6	EFO	disposition	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391376	"" []	5182936	\N	\N	EFO	7	EFO	material property	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391376	"" []	5998301	\N	\N	EFO	8	EFO	experimental factor	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Orphanet:391381	\N	\N	"" []	Orphanet:391381	"" []	77160	\N	\N	EFO	0	EFO	Disorder of asparagine metabolism	Disorder of asparagine metabolism
Orphanet:79062	Orphanet:391381	\N	"" []	Orphanet:391381	"" []	220716	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of asparagine metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:391381	"" []	576474	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of asparagine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391381	"" []	1159629	\N	\N	EFO	3	EFO	genetic disorder	Disorder of asparagine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:391381	"" []	1159630	\N	\N	EFO	3	EFO	metabolic disease	Disorder of asparagine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391381	"" []	2042984	\N	\N	EFO	4	EFO	disease	Disorder of asparagine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391381	"" []	2042985	\N	\N	EFO	4	EFO	disease	Disorder of asparagine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391381	"" []	3193214	\N	\N	EFO	5	EFO	disposition	Disorder of asparagine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391381	"" []	4399558	\N	\N	EFO	6	EFO	material property	Disorder of asparagine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391381	"" []	5416485	\N	\N	EFO	7	EFO	experimental factor	Disorder of asparagine metabolism
Orphanet:391384	\N	\N	"" []	Orphanet:391384	"" []	77161	\N	\N	EFO	0	EFO	Familial episodic pain syndrome	Familial episodic pain syndrome
Orphanet:98497	Orphanet:391384	\N	"" []	Orphanet:391384	"" []	220717	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Familial episodic pain syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:391384	"" []	576475	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Familial episodic pain syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391384	"" []	1159631	\N	\N	EFO	3	EFO	genetic disorder	Familial episodic pain syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391384	"" []	2042986	\N	\N	EFO	4	EFO	disease	Familial episodic pain syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391384	"" []	3193215	\N	\N	EFO	5	EFO	disposition	Familial episodic pain syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391384	"" []	4399559	\N	\N	EFO	6	EFO	material property	Familial episodic pain syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391384	"" []	5416486	\N	\N	EFO	7	EFO	experimental factor	Familial episodic pain syndrome
Orphanet:391389	\N	\N	"" []	Orphanet:391389	"" []	77162	\N	\N	EFO	0	EFO	Familial episodic pain syndrome with predominantly upper body involvement	Familial episodic pain syndrome with predominantly upper body involvement
Orphanet:391384	Orphanet:391389	\N	"" []	Orphanet:391389	"" []	220718	\N	\N	EFO	1	EFO	Familial episodic pain syndrome	Familial episodic pain syndrome with predominantly upper body involvement
Orphanet:98497	Orphanet:391384	\N	"" []	Orphanet:391389	"" []	576476	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Familial episodic pain syndrome with predominantly upper body involvement
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:391389	"" []	1159632	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Familial episodic pain syndrome with predominantly upper body involvement
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391389	"" []	2042987	\N	\N	EFO	4	EFO	genetic disorder	Familial episodic pain syndrome with predominantly upper body involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391389	"" []	3193216	\N	\N	EFO	5	EFO	disease	Familial episodic pain syndrome with predominantly upper body involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391389	"" []	4399560	\N	\N	EFO	6	EFO	disposition	Familial episodic pain syndrome with predominantly upper body involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391389	"" []	5416487	\N	\N	EFO	7	EFO	material property	Familial episodic pain syndrome with predominantly upper body involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391389	"" []	6151956	\N	\N	EFO	8	EFO	experimental factor	Familial episodic pain syndrome with predominantly upper body involvement
Orphanet:391392	\N	\N	"" []	Orphanet:391392	"" []	77163	\N	\N	EFO	0	EFO	Familial episodic pain syndrome with predominantly lower limb involvement	Familial episodic pain syndrome with predominantly lower limb involvement
Orphanet:391384	Orphanet:391392	\N	"" []	Orphanet:391392	"" []	220719	\N	\N	EFO	1	EFO	Familial episodic pain syndrome	Familial episodic pain syndrome with predominantly lower limb involvement
Orphanet:98497	Orphanet:391384	\N	"" []	Orphanet:391392	"" []	576477	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Familial episodic pain syndrome with predominantly lower limb involvement
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:391392	"" []	1159633	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Familial episodic pain syndrome with predominantly lower limb involvement
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391392	"" []	2042988	\N	\N	EFO	4	EFO	genetic disorder	Familial episodic pain syndrome with predominantly lower limb involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391392	"" []	3193217	\N	\N	EFO	5	EFO	disease	Familial episodic pain syndrome with predominantly lower limb involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391392	"" []	4399561	\N	\N	EFO	6	EFO	disposition	Familial episodic pain syndrome with predominantly lower limb involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391392	"" []	5416488	\N	\N	EFO	7	EFO	material property	Familial episodic pain syndrome with predominantly lower limb involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391392	"" []	6151957	\N	\N	EFO	8	EFO	experimental factor	Familial episodic pain syndrome with predominantly lower limb involvement
Orphanet:391397	\N	\N	"" []	Orphanet:391397	"" []	77164	\N	\N	EFO	0	EFO	Hereditary sensory and autonomic neuropathy type 7	Hereditary sensory and autonomic neuropathy type 7
Orphanet:140474	Orphanet:391397	\N	"" []	Orphanet:391397	"" []	220720	\N	\N	EFO	1	EFO	Autosomal dominant hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 7
Orphanet:140471	Orphanet:140474	\N	"" []	Orphanet:391397	"" []	576478	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 7
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:391397	"" []	1159634	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary sensory and autonomic neuropathy type 7
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:391397	"" []	2042989	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary sensory and autonomic neuropathy type 7
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391397	"" []	3193218	\N	\N	EFO	5	EFO	genetic disorder	Hereditary sensory and autonomic neuropathy type 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391397	"" []	4399562	\N	\N	EFO	6	EFO	disease	Hereditary sensory and autonomic neuropathy type 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391397	"" []	5416489	\N	\N	EFO	7	EFO	disposition	Hereditary sensory and autonomic neuropathy type 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391397	"" []	6151958	\N	\N	EFO	8	EFO	material property	Hereditary sensory and autonomic neuropathy type 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391397	"" []	6633858	\N	\N	EFO	9	EFO	experimental factor	Hereditary sensory and autonomic neuropathy type 7
Orphanet:391408	\N	\N	"" []	Orphanet:391408	"" []	77165	\N	\N	EFO	0	EFO	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Orphanet:183625	Orphanet:391408	\N	"" []	Orphanet:391408	"" []	220721	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Orphanet:183763	Orphanet:391408	\N	"" []	Orphanet:391408	"" []	220722	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Orphanet:269528	Orphanet:391408	\N	"" []	Orphanet:391408	"" []	220723	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:391408	"" []	576479	\N	\N	EFO	2	EFO	diabetes mellitus	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:391408	"" []	576480	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:391408	"" []	576481	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:391408	"" []	576482	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:391408	"" []	1159635	\N	\N	EFO	3	EFO	metabolic disease	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391408	"" []	1159636	\N	\N	EFO	3	EFO	genetic disorder	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:391408	"" []	1159637	\N	\N	EFO	3	EFO	endocrine system disease	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:391408	"" []	1159638	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:391408	"" []	1159639	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391408	"" []	2042990	\N	\N	EFO	4	EFO	disease	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391408	"" []	4134055	\N	\N	EFO	6	EFO	disease	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391408	"" []	2042992	\N	\N	EFO	4	EFO	disease	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391408	"" []	3193222	\N	\N	EFO	5	EFO	genetic disorder	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:391408	"" []	2042994	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:391408	"" []	2042995	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391408	"" []	5060090	\N	\N	EFO	7	EFO	disposition	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391408	"" []	3193221	\N	\N	EFO	5	EFO	genetic disorder	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391408	"" []	5877499	\N	\N	EFO	8	EFO	material property	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391408	"" []	6470734	\N	\N	EFO	9	EFO	experimental factor	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Orphanet:391411	\N	\N	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	77166	\N	\N	EFO	0	EFO	Atypical juvenile parkinsonism	Atypical juvenile parkinsonism
Orphanet:307055	Orphanet:391411	\N	"" []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	220724	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Atypical juvenile parkinsonism
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	576483	\N	\N	EFO	2	EFO	neurodegenerative disease	Atypical juvenile parkinsonism
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	576484	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Atypical juvenile parkinsonism
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	1159640	\N	\N	EFO	3	EFO	nervous system disease	Atypical juvenile parkinsonism
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	1159641	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Atypical juvenile parkinsonism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	4399565	\N	\N	EFO	6	EFO	disease	Atypical juvenile parkinsonism
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	2042997	\N	\N	EFO	4	EFO	movement disorder	Atypical juvenile parkinsonism
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	2042998	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Atypical juvenile parkinsonism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	5060091	\N	\N	EFO	7	EFO	disposition	Atypical juvenile parkinsonism
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	3193224	\N	\N	EFO	5	EFO	nervous system disease	Atypical juvenile parkinsonism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	3193225	\N	\N	EFO	5	EFO	genetic disorder	Atypical juvenile parkinsonism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	5877500	\N	\N	EFO	8	EFO	material property	Atypical juvenile parkinsonism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	4399566	\N	\N	EFO	6	EFO	disease	Atypical juvenile parkinsonism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391411	"Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms." []	6470735	\N	\N	EFO	9	EFO	experimental factor	Atypical juvenile parkinsonism
Orphanet:391417	\N	\N	"" []	Orphanet:391417	"" []	77167	\N	\N	EFO	0	EFO	HSD10 disease	HSD10 disease
Orphanet:68385	Orphanet:391417	\N	"" []	Orphanet:391417	"" []	220725	\N	\N	EFO	1	EFO	Neurometabolic disease	HSD10 disease
Orphanet:79158	Orphanet:391417	\N	"" []	Orphanet:391417	"" []	220726	\N	\N	EFO	1	EFO	Cerebral organic aciduria	HSD10 disease
Orphanet:98464	Orphanet:391417	\N	"" []	Orphanet:391417	"" []	220727	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	HSD10 disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:391417	"" []	576485	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	HSD10 disease
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:391417	"" []	576486	\N	\N	EFO	2	EFO	Organic aciduria	HSD10 disease
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:391417	"" []	576487	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	HSD10 disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391417	"" []	3193229	\N	\N	EFO	5	EFO	genetic disorder	HSD10 disease
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:391417	"" []	1159643	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	HSD10 disease
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:391417	"" []	1159644	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	HSD10 disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391417	"" []	4066950	\N	\N	EFO	6	EFO	disease	HSD10 disease
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:391417	"" []	2043000	\N	\N	EFO	4	EFO	Inborn errors of metabolism	HSD10 disease
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:391417	"" []	2043001	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	HSD10 disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391417	"" []	5060092	\N	\N	EFO	7	EFO	disposition	HSD10 disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391417	"" []	3193227	\N	\N	EFO	5	EFO	genetic disorder	HSD10 disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:391417	"" []	3193228	\N	\N	EFO	5	EFO	metabolic disease	HSD10 disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391417	"" []	5877501	\N	\N	EFO	8	EFO	material property	HSD10 disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391417	"" []	4399568	\N	\N	EFO	6	EFO	disease	HSD10 disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391417	"" []	6470736	\N	\N	EFO	9	EFO	experimental factor	HSD10 disease
Orphanet:391428	\N	\N	"" []	Orphanet:391428	"" []	77168	\N	\N	EFO	0	EFO	HSD10 disease, infantile type	HSD10 disease, infantile type
Orphanet:391417	Orphanet:391428	\N	"" []	Orphanet:391428	"" []	220728	\N	\N	EFO	1	EFO	HSD10 disease	HSD10 disease, infantile type
Orphanet:68385	Orphanet:391417	\N	"" []	Orphanet:391428	"" []	576488	\N	\N	EFO	2	EFO	Neurometabolic disease	HSD10 disease, infantile type
Orphanet:79158	Orphanet:391417	\N	"" []	Orphanet:391428	"" []	576489	\N	\N	EFO	2	EFO	Cerebral organic aciduria	HSD10 disease, infantile type
Orphanet:98464	Orphanet:391417	\N	"" []	Orphanet:391428	"" []	576490	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	HSD10 disease, infantile type
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:391428	"" []	1159645	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	HSD10 disease, infantile type
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:391428	"" []	1159646	\N	\N	EFO	3	EFO	Organic aciduria	HSD10 disease, infantile type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:391428	"" []	1159647	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	HSD10 disease, infantile type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391428	"" []	4399572	\N	\N	EFO	6	EFO	genetic disorder	HSD10 disease, infantile type
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:391428	"" []	2043003	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	HSD10 disease, infantile type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:391428	"" []	2043004	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	HSD10 disease, infantile type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391428	"" []	5060093	\N	\N	EFO	7	EFO	disease	HSD10 disease, infantile type
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:391428	"" []	3193231	\N	\N	EFO	5	EFO	Inborn errors of metabolism	HSD10 disease, infantile type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:391428	"" []	3193232	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	HSD10 disease, infantile type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391428	"" []	5877502	\N	\N	EFO	8	EFO	disposition	HSD10 disease, infantile type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391428	"" []	4399570	\N	\N	EFO	6	EFO	genetic disorder	HSD10 disease, infantile type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:391428	"" []	4399571	\N	\N	EFO	6	EFO	metabolic disease	HSD10 disease, infantile type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391428	"" []	6470737	\N	\N	EFO	9	EFO	material property	HSD10 disease, infantile type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391428	"" []	5416494	\N	\N	EFO	7	EFO	disease	HSD10 disease, infantile type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391428	"" []	6848691	\N	\N	EFO	10	EFO	experimental factor	HSD10 disease, infantile type
Orphanet:391457	\N	\N	"" []	Orphanet:391457	"" []	77169	\N	\N	EFO	0	EFO	HSD10 disease, neonatal type	HSD10 disease, neonatal type
Orphanet:391417	Orphanet:391457	\N	"" []	Orphanet:391457	"" []	220729	\N	\N	EFO	1	EFO	HSD10 disease	HSD10 disease, neonatal type
Orphanet:68385	Orphanet:391417	\N	"" []	Orphanet:391457	"" []	576491	\N	\N	EFO	2	EFO	Neurometabolic disease	HSD10 disease, neonatal type
Orphanet:79158	Orphanet:391417	\N	"" []	Orphanet:391457	"" []	576492	\N	\N	EFO	2	EFO	Cerebral organic aciduria	HSD10 disease, neonatal type
Orphanet:98464	Orphanet:391417	\N	"" []	Orphanet:391457	"" []	576493	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	HSD10 disease, neonatal type
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:391457	"" []	1159648	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	HSD10 disease, neonatal type
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:391457	"" []	1159649	\N	\N	EFO	3	EFO	Organic aciduria	HSD10 disease, neonatal type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:391457	"" []	1159650	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	HSD10 disease, neonatal type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391457	"" []	4399576	\N	\N	EFO	6	EFO	genetic disorder	HSD10 disease, neonatal type
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:391457	"" []	2043006	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	HSD10 disease, neonatal type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:391457	"" []	2043007	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	HSD10 disease, neonatal type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391457	"" []	5060094	\N	\N	EFO	7	EFO	disease	HSD10 disease, neonatal type
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:391457	"" []	3193234	\N	\N	EFO	5	EFO	Inborn errors of metabolism	HSD10 disease, neonatal type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:391457	"" []	3193235	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	HSD10 disease, neonatal type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391457	"" []	5877503	\N	\N	EFO	8	EFO	disposition	HSD10 disease, neonatal type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391457	"" []	4399574	\N	\N	EFO	6	EFO	genetic disorder	HSD10 disease, neonatal type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:391457	"" []	4399575	\N	\N	EFO	6	EFO	metabolic disease	HSD10 disease, neonatal type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391457	"" []	6470738	\N	\N	EFO	9	EFO	material property	HSD10 disease, neonatal type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391457	"" []	5416496	\N	\N	EFO	7	EFO	disease	HSD10 disease, neonatal type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391457	"" []	6848692	\N	\N	EFO	10	EFO	experimental factor	HSD10 disease, neonatal type
Orphanet:391474	\N	\N	"" []	Orphanet:391474	"" []	77170	\N	\N	EFO	0	EFO	Frontorhiny	Frontorhiny
Orphanet:250	Orphanet:391474	\N	"" []	Orphanet:391474	"" []	220730	\N	\N	EFO	1	EFO	Frontonasal dysplasia	Frontorhiny
Orphanet:93453	Orphanet:250	\N	"" []	Orphanet:391474	"" []	576494	\N	\N	EFO	2	EFO	Dysostosis with predominant craniofacial involvement	Frontorhiny
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:391474	"" []	1159651	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Frontorhiny
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:391474	"" []	2043008	\N	\N	EFO	4	EFO	Rare genetic bone disease	Frontorhiny
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:391474	"" []	2043009	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Frontorhiny
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391474	"" []	3193236	\N	\N	EFO	5	EFO	genetic disorder	Frontorhiny
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:391474	"" []	3193237	\N	\N	EFO	5	EFO	bone disease	Frontorhiny
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:391474	"" []	3193238	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Frontorhiny
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391474	"" []	5416499	\N	\N	EFO	7	EFO	disease	Frontorhiny
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:391474	"" []	4399578	\N	\N	EFO	6	EFO	skeletal system disease	Frontorhiny
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391474	"" []	4399579	\N	\N	EFO	6	EFO	genetic disorder	Frontorhiny
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391474	"" []	5998303	\N	\N	EFO	8	EFO	disposition	Frontorhiny
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391474	"" []	5416498	\N	\N	EFO	7	EFO	disease	Frontorhiny
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391474	"" []	6551515	\N	\N	EFO	9	EFO	material property	Frontorhiny
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391474	"" []	6889462	\N	\N	EFO	10	EFO	experimental factor	Frontorhiny
Orphanet:391487	\N	\N	"" []	Orphanet:391487	"" []	77171	\N	\N	EFO	0	EFO	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Orphanet:169355	Orphanet:391487	\N	"" []	Orphanet:391487	"" []	220731	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with autoimmunity	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Orphanet:183643	Orphanet:391487	\N	"" []	Orphanet:391487	"" []	220732	\N	\N	EFO	1	EFO	Genetic polyendocrinopathy	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Orphanet:363300	Orphanet:391487	\N	"" []	Orphanet:391487	"" []	220733	\N	\N	EFO	1	EFO	Genetic intractable diarrhea of infancy	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Orphanet:169361	Orphanet:169355	\N	"" []	Orphanet:391487	"" []	576495	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:391487	"" []	576496	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Orphanet:165655	Orphanet:363300	\N	"" []	Orphanet:391487	"" []	576497	\N	\N	EFO	2	EFO	Genetic intestinal disease	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:391487	"" []	1159652	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391487	"" []	1159653	\N	\N	EFO	3	EFO	genetic disorder	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:391487	"" []	1159654	\N	\N	EFO	3	EFO	endocrine system disease	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:391487	"" []	1159655	\N	\N	EFO	3	EFO	digestive system disease	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:391487	"" []	1159656	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:391487	"" []	2043010	\N	\N	EFO	4	EFO	Primary immunodeficiency	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391487	"" []	5416500	\N	\N	EFO	7	EFO	disease	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391487	"" []	2043012	\N	\N	EFO	4	EFO	disease	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391487	"" []	2043013	\N	\N	EFO	4	EFO	disease	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391487	"" []	2043014	\N	\N	EFO	4	EFO	genetic disorder	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:391487	"" []	3193239	\N	\N	EFO	5	EFO	Rare genetic immune disease	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391487	"" []	5817752	\N	\N	EFO	8	EFO	disposition	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391487	"" []	4399580	\N	\N	EFO	6	EFO	genetic disorder	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:391487	"" []	4399581	\N	\N	EFO	6	EFO	immune system disease	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391487	"" []	6410223	\N	\N	EFO	9	EFO	material property	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391487	"" []	5416501	\N	\N	EFO	7	EFO	disease	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391487	"" []	6808055	\N	\N	EFO	10	EFO	experimental factor	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Orphanet:391641	\N	\N	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	77172	\N	\N	EFO	0	EFO	Feingold syndrome type 1	Feingold syndrome type 1
Orphanet:1305	Orphanet:391641	\N	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	220734	\N	\N	EFO	1	EFO	Feingold syndrome	Feingold syndrome type 1
Orphanet:108965	Orphanet:1305	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	576498	\N	\N	EFO	2	EFO	Syndromic gastroduodenal malformation	Feingold syndrome type 1
Orphanet:108993	Orphanet:1305	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	576499	\N	\N	EFO	2	EFO	Non-syndromic respiratory or mediastinal malformation	Feingold syndrome type 1
Orphanet:330197	Orphanet:1305	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	576500	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Feingold syndrome type 1
Orphanet:371445	Orphanet:1305	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	576501	\N	\N	EFO	2	EFO	Genetic syndromic esophageal malformation	Feingold syndrome type 1
Orphanet:69028	Orphanet:1305	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	576502	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Feingold syndrome type 1
Orphanet:97944	Orphanet:108965	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	1159657	\N	\N	EFO	3	EFO	Gastroduodenal malformation	Feingold syndrome type 1
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	1159658	\N	\N	EFO	3	EFO	Genetic respiratory or mediastinal malformation	Feingold syndrome type 1
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	1159659	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Feingold syndrome type 1
Orphanet:88993	Orphanet:371445	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	1159660	\N	\N	EFO	3	EFO	Esophageal malformation	Feingold syndrome type 1
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	1159661	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Feingold syndrome type 1
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	1159662	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Feingold syndrome type 1
Orphanet:183545	Orphanet:97944	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	2043015	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	Feingold syndrome type 1
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	2043016	\N	\N	EFO	4	EFO	respiratory system disease	Feingold syndrome type 1
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	2043017	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome type 1
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	2043018	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome type 1
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	2043019	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	Feingold syndrome type 1
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	2043020	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Feingold syndrome type 1
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	2043021	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Feingold syndrome type 1
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	3193242	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome type 1
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	3193243	\N	\N	EFO	5	EFO	disease	Feingold syndrome type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	5416506	\N	\N	EFO	7	EFO	genetic disorder	Feingold syndrome type 1
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	3193245	\N	\N	EFO	5	EFO	Rare genetic bone disease	Feingold syndrome type 1
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	3193246	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Feingold syndrome type 1
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	3193247	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	6470740	\N	\N	EFO	9	EFO	disposition	Feingold syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	5877504	\N	\N	EFO	8	EFO	disease	Feingold syndrome type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	4399586	\N	\N	EFO	6	EFO	genetic disorder	Feingold syndrome type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	4399587	\N	\N	EFO	6	EFO	bone disease	Feingold syndrome type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	4399588	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	6808056	\N	\N	EFO	10	EFO	material property	Feingold syndrome type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	5416505	\N	\N	EFO	7	EFO	skeletal system disease	Feingold syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	7048751	\N	\N	EFO	11	EFO	experimental factor	Feingold syndrome type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391641	"Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." []	6151963	\N	\N	EFO	8	EFO	disease	Feingold syndrome type 1
Orphanet:391646	\N	\N	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	77173	\N	\N	EFO	0	EFO	Feingold syndrome type 2	Feingold syndrome type 2
Orphanet:1305	Orphanet:391646	\N	"Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	220735	\N	\N	EFO	1	EFO	Feingold syndrome	Feingold syndrome type 2
Orphanet:108965	Orphanet:1305	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	576503	\N	\N	EFO	2	EFO	Syndromic gastroduodenal malformation	Feingold syndrome type 2
Orphanet:108993	Orphanet:1305	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	576504	\N	\N	EFO	2	EFO	Non-syndromic respiratory or mediastinal malformation	Feingold syndrome type 2
Orphanet:330197	Orphanet:1305	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	576505	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Feingold syndrome type 2
Orphanet:371445	Orphanet:1305	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	576506	\N	\N	EFO	2	EFO	Genetic syndromic esophageal malformation	Feingold syndrome type 2
Orphanet:69028	Orphanet:1305	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	576507	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Feingold syndrome type 2
Orphanet:97944	Orphanet:108965	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	1159663	\N	\N	EFO	3	EFO	Gastroduodenal malformation	Feingold syndrome type 2
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	1159664	\N	\N	EFO	3	EFO	Genetic respiratory or mediastinal malformation	Feingold syndrome type 2
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	1159665	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Feingold syndrome type 2
Orphanet:88993	Orphanet:371445	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	1159666	\N	\N	EFO	3	EFO	Esophageal malformation	Feingold syndrome type 2
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	1159667	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Feingold syndrome type 2
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	1159668	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Feingold syndrome type 2
Orphanet:183545	Orphanet:97944	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	2043022	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	Feingold syndrome type 2
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	2043023	\N	\N	EFO	4	EFO	respiratory system disease	Feingold syndrome type 2
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	2043024	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome type 2
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	2043025	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome type 2
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	2043026	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	Feingold syndrome type 2
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	2043027	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Feingold syndrome type 2
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	2043028	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Feingold syndrome type 2
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	3193248	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome type 2
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	3193249	\N	\N	EFO	5	EFO	disease	Feingold syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	5416510	\N	\N	EFO	7	EFO	genetic disorder	Feingold syndrome type 2
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	3193251	\N	\N	EFO	5	EFO	Rare genetic bone disease	Feingold syndrome type 2
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	3193252	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Feingold syndrome type 2
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	3193253	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	6470742	\N	\N	EFO	9	EFO	disposition	Feingold syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	5877505	\N	\N	EFO	8	EFO	disease	Feingold syndrome type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	4399592	\N	\N	EFO	6	EFO	genetic disorder	Feingold syndrome type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	4399593	\N	\N	EFO	6	EFO	bone disease	Feingold syndrome type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	4399594	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Feingold syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	6808057	\N	\N	EFO	10	EFO	material property	Feingold syndrome type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	5416509	\N	\N	EFO	7	EFO	skeletal system disease	Feingold syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	7048752	\N	\N	EFO	11	EFO	experimental factor	Feingold syndrome type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391646	"Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." []	6151965	\N	\N	EFO	8	EFO	disease	Feingold syndrome type 2
Orphanet:391665	\N	\N	"" []	Orphanet:391665	"" []	77174	\N	\N	EFO	0	EFO	Homozygous familial hypercholesterolemia	Homozygous familial hypercholesterolemia
Orphanet:181422	Orphanet:391665	\N	"" []	Orphanet:391665	"" []	220736	\N	\N	EFO	1	EFO	Rare hyperlipidemia	Homozygous familial hypercholesterolemia
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:391665	"" []	576508	\N	\N	EFO	2	EFO	Rare dyslipidemia	Homozygous familial hypercholesterolemia
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:391665	"" []	1159669	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Homozygous familial hypercholesterolemia
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:391665	"" []	1159670	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Homozygous familial hypercholesterolemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391665	"" []	2043029	\N	\N	EFO	4	EFO	genetic disorder	Homozygous familial hypercholesterolemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:391665	"" []	2043030	\N	\N	EFO	4	EFO	endocrine system disease	Homozygous familial hypercholesterolemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:391665	"" []	2043031	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Homozygous familial hypercholesterolemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391665	"" []	4399596	\N	\N	EFO	6	EFO	disease	Homozygous familial hypercholesterolemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391665	"" []	3193255	\N	\N	EFO	5	EFO	disease	Homozygous familial hypercholesterolemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391665	"" []	3193256	\N	\N	EFO	5	EFO	genetic disorder	Homozygous familial hypercholesterolemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:391665	"" []	3193257	\N	\N	EFO	5	EFO	metabolic disease	Homozygous familial hypercholesterolemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391665	"" []	5182941	\N	\N	EFO	7	EFO	disposition	Homozygous familial hypercholesterolemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391665	"" []	4399597	\N	\N	EFO	6	EFO	disease	Homozygous familial hypercholesterolemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391665	"" []	5998309	\N	\N	EFO	8	EFO	material property	Homozygous familial hypercholesterolemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391665	"" []	6551518	\N	\N	EFO	9	EFO	experimental factor	Homozygous familial hypercholesterolemia
Orphanet:391677	\N	\N	"" []	Orphanet:391677	"" []	77175	\N	\N	EFO	0	EFO	Short stature-optic atrophy-Pelger-Hut anomaly syndrome	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
Orphanet:183570	Orphanet:391677	\N	"" []	Orphanet:391677	"" []	220737	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
Orphanet:98677	Orphanet:391677	\N	"" []	Orphanet:391677	"" []	220738	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:391677	"" []	576509	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:391677	"" []	576510	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391677	"" []	1159671	\N	\N	EFO	3	EFO	genetic disorder	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:391677	"" []	1159672	\N	\N	EFO	3	EFO	Genetic optic atrophy	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391677	"" []	5416513	\N	\N	EFO	7	EFO	disease	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:391677	"" []	2043033	\N	\N	EFO	4	EFO	Optic neuropathy	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391677	"" []	5817753	\N	\N	EFO	8	EFO	disposition	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:391677	"" []	3193259	\N	\N	EFO	5	EFO	Rare genetic eye disease	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391677	"" []	6410224	\N	\N	EFO	9	EFO	material property	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391677	"" []	4399599	\N	\N	EFO	6	EFO	genetic disorder	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:391677	"" []	4399600	\N	\N	EFO	6	EFO	eye disease	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391677	"" []	6808058	\N	\N	EFO	10	EFO	experimental factor	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391677	"" []	5416514	\N	\N	EFO	7	EFO	disease	Short stature-optic atrophy-Pelger-Hut anomaly syndrome
Orphanet:391711	\N	\N	"" []	Orphanet:391711	"" []	77176	\N	\N	EFO	0	EFO	Persistent combined dystonia	Persistent combined dystonia
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:391711	"" []	220739	\N	\N	EFO	1	EFO	Combined dystonia	Persistent combined dystonia
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:391711	"" []	576511	\N	\N	EFO	2	EFO	Rare genetic dystonia	Persistent combined dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:391711	"" []	1159673	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Persistent combined dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:391711	"" []	2043034	\N	\N	EFO	4	EFO	movement disorder	Persistent combined dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:391711	"" []	2043035	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Persistent combined dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:391711	"" []	3193260	\N	\N	EFO	5	EFO	nervous system disease	Persistent combined dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391711	"" []	3193261	\N	\N	EFO	5	EFO	genetic disorder	Persistent combined dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391711	"" []	4399601	\N	\N	EFO	6	EFO	disease	Persistent combined dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391711	"" []	4399602	\N	\N	EFO	6	EFO	disease	Persistent combined dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391711	"" []	5416515	\N	\N	EFO	7	EFO	disposition	Persistent combined dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391711	"" []	6151967	\N	\N	EFO	8	EFO	material property	Persistent combined dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391711	"" []	6633860	\N	\N	EFO	9	EFO	experimental factor	Persistent combined dystonia
Orphanet:391799	\N	\N	"" []	Orphanet:391799	"" []	77177	\N	\N	EFO	0	EFO	Rare genetic dystonia	Rare genetic dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:391799	"" []	220740	\N	\N	EFO	1	EFO	Rare genetic movement disorder	Rare genetic dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:391799	"" []	576512	\N	\N	EFO	2	EFO	movement disorder	Rare genetic dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:391799	"" []	576513	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Rare genetic dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:391799	"" []	1159674	\N	\N	EFO	3	EFO	nervous system disease	Rare genetic dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:391799	"" []	1159675	\N	\N	EFO	3	EFO	genetic disorder	Rare genetic dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391799	"" []	2043036	\N	\N	EFO	4	EFO	disease	Rare genetic dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:391799	"" []	2043037	\N	\N	EFO	4	EFO	disease	Rare genetic dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:391799	"" []	3193262	\N	\N	EFO	5	EFO	disposition	Rare genetic dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:391799	"" []	4399603	\N	\N	EFO	6	EFO	material property	Rare genetic dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:391799	"" []	5416516	\N	\N	EFO	7	EFO	experimental factor	Rare genetic dystonia
Orphanet:392	\N	\N	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	77178	\N	\N	EFO	0	EFO	Holt-Oram syndrome	Holt-Oram syndrome
Orphanet:101934	Orphanet:392	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	220741	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Holt-Oram syndrome
Orphanet:156532	Orphanet:392	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	220742	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Holt-Oram syndrome
Orphanet:228184	Orphanet:392	\N	"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	220743	\N	\N	EFO	1	EFO	Heart-hand syndrome	Holt-Oram syndrome
Orphanet:330206	Orphanet:392	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	220744	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Holt-Oram syndrome
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	576514	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Holt-Oram syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	576515	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Holt-Oram syndrome
Orphanet:404571	Orphanet:228184	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	576516	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Holt-Oram syndrome
Orphanet:404577	Orphanet:228184	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	576517	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Holt-Oram syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	576518	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Holt-Oram syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	1159676	\N	\N	EFO	3	EFO	genetic disorder	Holt-Oram syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	1159677	\N	\N	EFO	3	EFO	heart disease	Holt-Oram syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	1159678	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Holt-Oram syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	1159679	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Holt-Oram syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	1159680	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Holt-Oram syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	5060096	\N	\N	EFO	7	EFO	disease	Holt-Oram syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	2043039	\N	\N	EFO	4	EFO	cardiovascular disease	Holt-Oram syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	2043040	\N	\N	EFO	4	EFO	Rare genetic bone disease	Holt-Oram syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	2043041	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Holt-Oram syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	2043042	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Holt-Oram syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	4399606	\N	\N	EFO	6	EFO	genetic disorder	Holt-Oram syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	5817754	\N	\N	EFO	8	EFO	disposition	Holt-Oram syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	3193264	\N	\N	EFO	5	EFO	disease	Holt-Oram syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	3193265	\N	\N	EFO	5	EFO	genetic disorder	Holt-Oram syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	3193266	\N	\N	EFO	5	EFO	bone disease	Holt-Oram syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	3193267	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Holt-Oram syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	6410225	\N	\N	EFO	9	EFO	material property	Holt-Oram syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	4399605	\N	\N	EFO	6	EFO	skeletal system disease	Holt-Oram syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	6808059	\N	\N	EFO	10	EFO	experimental factor	Holt-Oram syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:392	"Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." []	5416518	\N	\N	EFO	7	EFO	disease	Holt-Oram syndrome
Orphanet:393	\N	\N	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	77179	\N	\N	EFO	0	EFO	46,XX testicular disorder of sex development	46,XX testicular disorder of sex development
Orphanet:325055	Orphanet:393	\N	"" []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	220745	\N	\N	EFO	1	EFO	46,XX disorder of gonadal development	46,XX testicular disorder of sex development
Orphanet:98313	Orphanet:393	\N	"" []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	220746	\N	\N	EFO	1	EFO	Male infertility due to gonadal dysgenesis	46,XX testicular disorder of sex development
Orphanet:325697	Orphanet:325055	\N	"" []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	576519	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	46,XX testicular disorder of sex development
Orphanet:399764	Orphanet:98313	\N	"" []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	576520	\N	\N	EFO	2	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	46,XX testicular disorder of sex development
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	1159681	\N	\N	EFO	3	EFO	Genetic disorder of sex development	46,XX testicular disorder of sex development
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	1159682	\N	\N	EFO	3	EFO	Rare genetic male infertility	46,XX testicular disorder of sex development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	2043044	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	46,XX testicular disorder of sex development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	2043045	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	46,XX testicular disorder of sex development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	2043046	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	46,XX testicular disorder of sex development
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	2043047	\N	\N	EFO	4	EFO	Genetic infertility	46,XX testicular disorder of sex development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	3193270	\N	\N	EFO	5	EFO	genetic disorder	46,XX testicular disorder of sex development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	3193271	\N	\N	EFO	5	EFO	genetic disorder	46,XX testicular disorder of sex development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	3193272	\N	\N	EFO	5	EFO	endocrine system disease	46,XX testicular disorder of sex development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	3193273	\N	\N	EFO	5	EFO	genetic disorder	46,XX testicular disorder of sex development
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	3193274	\N	\N	EFO	5	EFO	genetic disorder	46,XX testicular disorder of sex development
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	3193275	\N	\N	EFO	5	EFO	reproductive system disease	46,XX testicular disorder of sex development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	4399607	\N	\N	EFO	6	EFO	disease	46,XX testicular disorder of sex development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	4399608	\N	\N	EFO	6	EFO	disease	46,XX testicular disorder of sex development
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	4399609	\N	\N	EFO	6	EFO	disease	46,XX testicular disorder of sex development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	5416519	\N	\N	EFO	7	EFO	disposition	46,XX testicular disorder of sex development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	6151968	\N	\N	EFO	8	EFO	material property	46,XX testicular disorder of sex development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:393	"46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." []	6633861	\N	\N	EFO	9	EFO	experimental factor	46,XX testicular disorder of sex development
Orphanet:394	\N	\N	"" []	Orphanet:394	"" []	77180	\N	\N	EFO	0	EFO	Classical homocystinuria	Classical homocystinuria
Orphanet:108987	Orphanet:394	\N	"" []	Orphanet:394	"" []	220747	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Classical homocystinuria
Orphanet:139009	Orphanet:394	\N	"" []	Orphanet:394	"" []	220748	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Classical homocystinuria
Orphanet:68385	Orphanet:394	\N	"" []	Orphanet:394	"" []	220749	\N	\N	EFO	1	EFO	Neurometabolic disease	Classical homocystinuria
Orphanet:79173	Orphanet:394	\N	"" []	Orphanet:394	"" []	220750	\N	\N	EFO	1	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Classical homocystinuria
Orphanet:98638	Orphanet:394	\N	"" []	Orphanet:394	"" []	220751	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Classical homocystinuria
Orphanet:98653	Orphanet:394	\N	"" []	Orphanet:394	"" []	220752	\N	\N	EFO	1	EFO	Lens position anomaly	Classical homocystinuria
Orphanet:98712	Orphanet:394	\N	"" []	Orphanet:394	"" []	220753	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Classical homocystinuria
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:394	"" []	576521	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Classical homocystinuria
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:394	"" []	576522	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Classical homocystinuria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:394	"" []	576523	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Classical homocystinuria
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:394	"" []	576524	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Classical homocystinuria
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:394	"" []	576525	\N	\N	EFO	2	EFO	Rare genetic eye disease	Classical homocystinuria
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:394	"" []	576526	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Classical homocystinuria
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:394	"" []	576527	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Classical homocystinuria
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:394	"" []	1159683	\N	\N	EFO	3	EFO	Rare genetic eye disease	Classical homocystinuria
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:394	"" []	1159684	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Classical homocystinuria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:394	"" []	2043050	\N	\N	EFO	4	EFO	genetic disorder	Classical homocystinuria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:394	"" []	1159686	\N	\N	EFO	3	EFO	genetic disorder	Classical homocystinuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:394	"" []	1159687	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Classical homocystinuria
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:394	"" []	2043048	\N	\N	EFO	4	EFO	genetic disorder	Classical homocystinuria
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:394	"" []	2043049	\N	\N	EFO	4	EFO	eye disease	Classical homocystinuria
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:394	"" []	1159690	\N	\N	EFO	3	EFO	Rare genetic eye disease	Classical homocystinuria
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:394	"" []	1159691	\N	\N	EFO	3	EFO	Rare genetic eye disease	Classical homocystinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:394	"" []	3000356	\N	\N	EFO	5	EFO	disease	Classical homocystinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:394	"" []	2043052	\N	\N	EFO	4	EFO	genetic disorder	Classical homocystinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:394	"" []	2043053	\N	\N	EFO	4	EFO	metabolic disease	Classical homocystinuria
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:394	"" []	3000357	\N	\N	EFO	5	EFO	disease	Classical homocystinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:394	"" []	4134059	\N	\N	EFO	6	EFO	disposition	Classical homocystinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:394	"" []	3193277	\N	\N	EFO	5	EFO	disease	Classical homocystinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:394	"" []	5182943	\N	\N	EFO	7	EFO	material property	Classical homocystinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:394	"" []	5998311	\N	\N	EFO	8	EFO	experimental factor	Classical homocystinuria
Orphanet:394529	\N	\N	"" []	Orphanet:394529	"" []	77181	\N	\N	EFO	0	EFO	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:26791	Orphanet:394529	\N	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	Orphanet:394529	"" []	220754	\N	\N	EFO	1	EFO	Multiple acyl-CoA dehydrogenase deficiency	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:206953	Orphanet:26791	\N	"" []	Orphanet:394529	"" []	576528	\N	\N	EFO	2	EFO	Muscular lipidosis	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:217591	Orphanet:26791	\N	"" []	Orphanet:394529	"" []	576529	\N	\N	EFO	2	EFO	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:309120	Orphanet:26791	\N	"" []	Orphanet:394529	"" []	576530	\N	\N	EFO	2	EFO	Acyl-CoA dehydrogenase deficiency	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:394529	"" []	1159692	\N	\N	EFO	3	EFO	Metabolic myopathy	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:99739	Orphanet:217591	\N	"" []	Orphanet:394529	"" []	1159693	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:309115	Orphanet:309120	\N	"" []	Orphanet:394529	"" []	1159694	\N	\N	EFO	3	EFO	Disorder of mitochondrial fatty acid oxidation	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:394529	"" []	2043055	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:394529	"" []	2043056	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:394529	"" []	2043057	\N	\N	EFO	4	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:394529	"" []	3193278	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:394529	"" []	3193279	\N	\N	EFO	5	EFO	genetic disorder	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:394529	"" []	3193280	\N	\N	EFO	5	EFO	heart disease	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:394529	"" []	3193281	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:394529	"" []	4399611	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:394529	"" []	6633863	\N	\N	EFO	9	EFO	disease	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:394529	"" []	4399613	\N	\N	EFO	6	EFO	cardiovascular disease	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:394529	"" []	4399614	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:394529	"" []	5416521	\N	\N	EFO	7	EFO	muscular disease	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:394529	"" []	5416522	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:394529	"" []	6808060	\N	\N	EFO	10	EFO	disposition	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:394529	"" []	5416524	\N	\N	EFO	7	EFO	disease	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:394529	"" []	5416525	\N	\N	EFO	7	EFO	genetic disorder	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:394529	"" []	5416526	\N	\N	EFO	7	EFO	metabolic disease	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:394529	"" []	6151969	\N	\N	EFO	8	EFO	skeletal system disease	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:394529	"" []	6151970	\N	\N	EFO	8	EFO	genetic disorder	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:394529	"" []	7048753	\N	\N	EFO	11	EFO	material property	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:394529	"" []	6151974	\N	\N	EFO	8	EFO	disease	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:394529	"" []	6633862	\N	\N	EFO	9	EFO	disease	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:394529	"" []	7190246	\N	\N	EFO	12	EFO	experimental factor	Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Orphanet:394532	\N	\N	"" []	Orphanet:394532	"" []	77182	\N	\N	EFO	0	EFO	Multiple acyl-CoA dehydrogenation deficiency, mild type	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:26791	Orphanet:394532	\N	"Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." []	Orphanet:394532	"" []	220755	\N	\N	EFO	1	EFO	Multiple acyl-CoA dehydrogenase deficiency	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:206953	Orphanet:26791	\N	"" []	Orphanet:394532	"" []	576531	\N	\N	EFO	2	EFO	Muscular lipidosis	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:217591	Orphanet:26791	\N	"" []	Orphanet:394532	"" []	576532	\N	\N	EFO	2	EFO	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:309120	Orphanet:26791	\N	"" []	Orphanet:394532	"" []	576533	\N	\N	EFO	2	EFO	Acyl-CoA dehydrogenase deficiency	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:394532	"" []	1159695	\N	\N	EFO	3	EFO	Metabolic myopathy	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:99739	Orphanet:217591	\N	"" []	Orphanet:394532	"" []	1159696	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:309115	Orphanet:309120	\N	"" []	Orphanet:394532	"" []	1159697	\N	\N	EFO	3	EFO	Disorder of mitochondrial fatty acid oxidation	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:394532	"" []	2043058	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:394532	"" []	2043059	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:394532	"" []	2043060	\N	\N	EFO	4	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:394532	"" []	3193282	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:394532	"" []	3193283	\N	\N	EFO	5	EFO	genetic disorder	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:394532	"" []	3193284	\N	\N	EFO	5	EFO	heart disease	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:394532	"" []	3193285	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:394532	"" []	4399615	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:394532	"" []	6633866	\N	\N	EFO	9	EFO	disease	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:394532	"" []	4399617	\N	\N	EFO	6	EFO	cardiovascular disease	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:394532	"" []	4399618	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:394532	"" []	5416527	\N	\N	EFO	7	EFO	muscular disease	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:394532	"" []	5416528	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Multiple acyl-CoA dehydrogenation deficiency, mild type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:394532	"" []	6808061	\N	\N	EFO	10	EFO	disposition	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:394532	"" []	5416530	\N	\N	EFO	7	EFO	disease	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:394532	"" []	5416531	\N	\N	EFO	7	EFO	genetic disorder	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:394532	"" []	5416532	\N	\N	EFO	7	EFO	metabolic disease	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:394532	"" []	6151975	\N	\N	EFO	8	EFO	skeletal system disease	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:394532	"" []	6151976	\N	\N	EFO	8	EFO	genetic disorder	Multiple acyl-CoA dehydrogenation deficiency, mild type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:394532	"" []	7048754	\N	\N	EFO	11	EFO	material property	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:394532	"" []	6151980	\N	\N	EFO	8	EFO	disease	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:394532	"" []	6633865	\N	\N	EFO	9	EFO	disease	Multiple acyl-CoA dehydrogenation deficiency, mild type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:394532	"" []	7190247	\N	\N	EFO	12	EFO	experimental factor	Multiple acyl-CoA dehydrogenation deficiency, mild type
Orphanet:395	\N	\N	"" []	Orphanet:395	"" []	77183	\N	\N	EFO	0	EFO	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Orphanet:207018	Orphanet:395	\N	"" []	Orphanet:395	"" []	220756	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Orphanet:285657	Orphanet:395	\N	"" []	Orphanet:395	"" []	220757	\N	\N	EFO	1	EFO	Disorder of folate metabolism and transport	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:395	"" []	576534	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Orphanet:309827	Orphanet:285657	\N	"" []	Orphanet:395	"" []	576535	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:395	"" []	1159698	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:395	"" []	1159699	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:395	"" []	2043061	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:395	"" []	2043062	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:395	"" []	3193286	\N	\N	EFO	5	EFO	genetic disorder	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:395	"" []	3193287	\N	\N	EFO	5	EFO	genetic disorder	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:395	"" []	3193288	\N	\N	EFO	5	EFO	metabolic disease	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:395	"" []	4399619	\N	\N	EFO	6	EFO	disease	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:395	"" []	4399620	\N	\N	EFO	6	EFO	disease	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:395	"" []	5416533	\N	\N	EFO	7	EFO	disposition	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:395	"" []	6151981	\N	\N	EFO	8	EFO	material property	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:395	"" []	6633868	\N	\N	EFO	9	EFO	experimental factor	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Orphanet:397590	\N	\N	"" []	Orphanet:397590	"" []	77184	\N	\N	EFO	0	EFO	Silver-Russell syndrome due to a point mutation	Silver-Russell syndrome due to a point mutation
Orphanet:813	Orphanet:397590	\N	"" []	Orphanet:397590	"" []	220758	\N	\N	EFO	1	EFO	Silver-Russell syndrome	Silver-Russell syndrome due to a point mutation
Orphanet:183422	Orphanet:813	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:397590	"" []	576536	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Silver-Russell syndrome due to a point mutation
Orphanet:183570	Orphanet:813	\N	"" []	Orphanet:397590	"" []	576537	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Silver-Russell syndrome due to a point mutation
Orphanet:330197	Orphanet:813	\N	"" []	Orphanet:397590	"" []	576538	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Silver-Russell syndrome due to a point mutation
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:397590	"" []	1159700	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Silver-Russell syndrome due to a point mutation
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:397590	"" []	1159701	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome due to a point mutation
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:397590	"" []	1159702	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Silver-Russell syndrome due to a point mutation
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397590	"" []	2043063	\N	\N	EFO	4	EFO	genetic disorder	Silver-Russell syndrome due to a point mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397590	"" []	3193290	\N	\N	EFO	5	EFO	genetic disorder	Silver-Russell syndrome due to a point mutation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:397590	"" []	2043065	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome due to a point mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397590	"" []	4134060	\N	\N	EFO	6	EFO	disease	Silver-Russell syndrome due to a point mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397590	"" []	5182944	\N	\N	EFO	7	EFO	disposition	Silver-Russell syndrome due to a point mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397590	"" []	5998312	\N	\N	EFO	8	EFO	material property	Silver-Russell syndrome due to a point mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397590	"" []	6551521	\N	\N	EFO	9	EFO	experimental factor	Silver-Russell syndrome due to a point mutation
Orphanet:397593	\N	\N	"" []	Orphanet:397593	"" []	77185	\N	\N	EFO	0	EFO	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Orphanet:309136	Orphanet:397593	\N	"" []	Orphanet:397593	"" []	220759	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:397593	"" []	576539	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:397593	"" []	1159703	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:397593	"" []	2043066	\N	\N	EFO	4	EFO	Mitochondrial disease	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:397593	"" []	3193291	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:397593	"" []	3193292	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:397593	"" []	4399622	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:397593	"" []	4399623	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397593	"" []	5416535	\N	\N	EFO	7	EFO	genetic disorder	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397593	"" []	5416536	\N	\N	EFO	7	EFO	genetic disorder	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:397593	"" []	5416537	\N	\N	EFO	7	EFO	metabolic disease	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397593	"" []	6151983	\N	\N	EFO	8	EFO	disease	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397593	"" []	6151984	\N	\N	EFO	8	EFO	disease	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397593	"" []	6633869	\N	\N	EFO	9	EFO	disposition	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397593	"" []	6926155	\N	\N	EFO	10	EFO	material property	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397593	"" []	7099295	\N	\N	EFO	11	EFO	experimental factor	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Orphanet:397596	\N	\N	"" []	Orphanet:397596	"" []	77186	\N	\N	EFO	0	EFO	Activated PIK3-delta syndrome	Activated PIK3-delta syndrome
Orphanet:101972	Orphanet:397596	\N	"" []	Orphanet:397596	"" []	220760	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Activated PIK3-delta syndrome
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:397596	"" []	576540	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Activated PIK3-delta syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:397596	"" []	1159704	\N	\N	EFO	3	EFO	Primary immunodeficiency	Activated PIK3-delta syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:397596	"" []	2043067	\N	\N	EFO	4	EFO	Rare genetic immune disease	Activated PIK3-delta syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397596	"" []	3193293	\N	\N	EFO	5	EFO	genetic disorder	Activated PIK3-delta syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:397596	"" []	3193294	\N	\N	EFO	5	EFO	immune system disease	Activated PIK3-delta syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397596	"" []	4399624	\N	\N	EFO	6	EFO	disease	Activated PIK3-delta syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397596	"" []	4399625	\N	\N	EFO	6	EFO	disease	Activated PIK3-delta syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397596	"" []	5416538	\N	\N	EFO	7	EFO	disposition	Activated PIK3-delta syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397596	"" []	6151985	\N	\N	EFO	8	EFO	material property	Activated PIK3-delta syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397596	"" []	6633870	\N	\N	EFO	9	EFO	experimental factor	Activated PIK3-delta syndrome
Orphanet:397606	\N	\N	"" []	Orphanet:397606	"" []	77187	\N	\N	EFO	0	EFO	Chronic diarrhea with hereditary sensory and autonomic neuropathy	Chronic diarrhea with hereditary sensory and autonomic neuropathy
Orphanet:140474	Orphanet:397606	\N	"" []	Orphanet:397606	"" []	220761	\N	\N	EFO	1	EFO	Autosomal dominant hereditary sensory and autonomic neuropathy	Chronic diarrhea with hereditary sensory and autonomic neuropathy
Orphanet:140471	Orphanet:140474	\N	"" []	Orphanet:397606	"" []	576541	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Chronic diarrhea with hereditary sensory and autonomic neuropathy
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:397606	"" []	1159705	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Chronic diarrhea with hereditary sensory and autonomic neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:397606	"" []	2043068	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Chronic diarrhea with hereditary sensory and autonomic neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397606	"" []	3193295	\N	\N	EFO	5	EFO	genetic disorder	Chronic diarrhea with hereditary sensory and autonomic neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397606	"" []	4399626	\N	\N	EFO	6	EFO	disease	Chronic diarrhea with hereditary sensory and autonomic neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397606	"" []	5416539	\N	\N	EFO	7	EFO	disposition	Chronic diarrhea with hereditary sensory and autonomic neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397606	"" []	6151986	\N	\N	EFO	8	EFO	material property	Chronic diarrhea with hereditary sensory and autonomic neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397606	"" []	6633871	\N	\N	EFO	9	EFO	experimental factor	Chronic diarrhea with hereditary sensory and autonomic neuropathy
Orphanet:397612	\N	\N	"" []	Orphanet:397612	"" []	77188	\N	\N	EFO	0	EFO	Macrocephaly-developmental delay syndrome	Macrocephaly-developmental delay syndrome
Orphanet:102283	Orphanet:397612	\N	"" []	Orphanet:397612	"" []	220762	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Macrocephaly-developmental delay syndrome
Orphanet:183763	Orphanet:397612	\N	"" []	Orphanet:397612	"" []	220763	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Macrocephaly-developmental delay syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:397612	"" []	576542	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Macrocephaly-developmental delay syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:397612	"" []	576543	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Macrocephaly-developmental delay syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:397612	"" []	1159706	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Macrocephaly-developmental delay syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:397612	"" []	1159707	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Macrocephaly-developmental delay syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397612	"" []	2043069	\N	\N	EFO	4	EFO	genetic disorder	Macrocephaly-developmental delay syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397612	"" []	2043070	\N	\N	EFO	4	EFO	genetic disorder	Macrocephaly-developmental delay syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397612	"" []	3193296	\N	\N	EFO	5	EFO	disease	Macrocephaly-developmental delay syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397612	"" []	4399627	\N	\N	EFO	6	EFO	disposition	Macrocephaly-developmental delay syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397612	"" []	5416540	\N	\N	EFO	7	EFO	material property	Macrocephaly-developmental delay syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397612	"" []	6151987	\N	\N	EFO	8	EFO	experimental factor	Macrocephaly-developmental delay syndrome
Orphanet:397615	\N	\N	"" []	Orphanet:397615	"" []	77189	\N	\N	EFO	0	EFO	Obesity due to CEP19 deficiency	Obesity due to CEP19 deficiency
Orphanet:98267	Orphanet:397615	\N	"" []	Orphanet:397615	"" []	220764	\N	\N	EFO	1	EFO	Genetic non-syndromic obesity	Obesity due to CEP19 deficiency
Orphanet:77828	Orphanet:98267	\N	"" []	Orphanet:397615	"" []	576544	\N	\N	EFO	2	EFO	Genetic obesity	Obesity due to CEP19 deficiency
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:397615	"" []	1159708	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Obesity due to CEP19 deficiency
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:397615	"" []	1159709	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Obesity due to CEP19 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397615	"" []	2043071	\N	\N	EFO	4	EFO	genetic disorder	Obesity due to CEP19 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:397615	"" []	2043072	\N	\N	EFO	4	EFO	endocrine system disease	Obesity due to CEP19 deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:397615	"" []	2043073	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Obesity due to CEP19 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397615	"" []	4399629	\N	\N	EFO	6	EFO	disease	Obesity due to CEP19 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397615	"" []	3193298	\N	\N	EFO	5	EFO	disease	Obesity due to CEP19 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397615	"" []	3193299	\N	\N	EFO	5	EFO	genetic disorder	Obesity due to CEP19 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397615	"" []	5182945	\N	\N	EFO	7	EFO	disposition	Obesity due to CEP19 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397615	"" []	5998313	\N	\N	EFO	8	EFO	material property	Obesity due to CEP19 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397615	"" []	6551522	\N	\N	EFO	9	EFO	experimental factor	Obesity due to CEP19 deficiency
Orphanet:397618	\N	\N	"" []	Orphanet:397618	"" []	77190	\N	\N	EFO	0	EFO	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Orphanet:98657	Orphanet:397618	\N	"" []	Orphanet:397618	"" []	220765	\N	\N	EFO	1	EFO	Genetic vitreous-retinal disease	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Orphanet:98671	Orphanet:397618	\N	"" []	Orphanet:397618	"" []	220766	\N	\N	EFO	1	EFO	Optic neuropathy	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:397618	"" []	576545	\N	\N	EFO	2	EFO	Rare genetic eye disease	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:397618	"" []	576546	\N	\N	EFO	2	EFO	Rare genetic eye disease	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397618	"" []	1159710	\N	\N	EFO	3	EFO	genetic disorder	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:397618	"" []	1159711	\N	\N	EFO	3	EFO	eye disease	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397618	"" []	2043074	\N	\N	EFO	4	EFO	disease	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397618	"" []	2043075	\N	\N	EFO	4	EFO	disease	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397618	"" []	3193300	\N	\N	EFO	5	EFO	disposition	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397618	"" []	4399630	\N	\N	EFO	6	EFO	material property	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397618	"" []	5416542	\N	\N	EFO	7	EFO	experimental factor	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Orphanet:397623	\N	\N	"" []	Orphanet:397623	"" []	77191	\N	\N	EFO	0	EFO	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Orphanet:93438	Orphanet:397623	\N	"" []	Orphanet:397623	"" []	220767	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:397623	"" []	576547	\N	\N	EFO	2	EFO	Primary bone dysplasia	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:397623	"" []	1159712	\N	\N	EFO	3	EFO	Rare genetic bone disease	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:397623	"" []	1159713	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397623	"" []	2043076	\N	\N	EFO	4	EFO	genetic disorder	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:397623	"" []	2043077	\N	\N	EFO	4	EFO	bone disease	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:397623	"" []	2043078	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397623	"" []	4399633	\N	\N	EFO	6	EFO	disease	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:397623	"" []	3193302	\N	\N	EFO	5	EFO	skeletal system disease	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397623	"" []	3193303	\N	\N	EFO	5	EFO	genetic disorder	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397623	"" []	5182946	\N	\N	EFO	7	EFO	disposition	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397623	"" []	4399632	\N	\N	EFO	6	EFO	disease	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397623	"" []	5998314	\N	\N	EFO	8	EFO	material property	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397623	"" []	6551523	\N	\N	EFO	9	EFO	experimental factor	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Orphanet:397685	\N	\N	"" []	Orphanet:397685	"" []	77192	\N	\N	EFO	0	EFO	Familial  hyperprolactinemia	Familial  hyperprolactinemia
Orphanet:183628	Orphanet:397685	\N	"" []	Orphanet:397685	"" []	220768	\N	\N	EFO	1	EFO	Rare genetic hypothalamic or pituitary disease	Familial  hyperprolactinemia
Orphanet:399983	Orphanet:397685	\N	"" []	Orphanet:397685	"" []	220769	\N	\N	EFO	1	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Familial  hyperprolactinemia
Orphanet:400011	Orphanet:397685	\N	"" []	Orphanet:397685	"" []	220770	\N	\N	EFO	1	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Familial  hyperprolactinemia
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:397685	"" []	576548	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Familial  hyperprolactinemia
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:397685	"" []	576549	\N	\N	EFO	2	EFO	Rare genetic male infertility	Familial  hyperprolactinemia
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:397685	"" []	576550	\N	\N	EFO	2	EFO	Rare genetic female infertility	Familial  hyperprolactinemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397685	"" []	1159714	\N	\N	EFO	3	EFO	genetic disorder	Familial  hyperprolactinemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:397685	"" []	1159715	\N	\N	EFO	3	EFO	endocrine system disease	Familial  hyperprolactinemia
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:397685	"" []	1159716	\N	\N	EFO	3	EFO	Genetic infertility	Familial  hyperprolactinemia
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:397685	"" []	1159717	\N	\N	EFO	3	EFO	Genetic infertility	Familial  hyperprolactinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397685	"" []	3193305	\N	\N	EFO	5	EFO	disease	Familial  hyperprolactinemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397685	"" []	2043080	\N	\N	EFO	4	EFO	disease	Familial  hyperprolactinemia
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397685	"" []	2043081	\N	\N	EFO	4	EFO	genetic disorder	Familial  hyperprolactinemia
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:397685	"" []	2043082	\N	\N	EFO	4	EFO	reproductive system disease	Familial  hyperprolactinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397685	"" []	4134061	\N	\N	EFO	6	EFO	disposition	Familial  hyperprolactinemia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397685	"" []	3193306	\N	\N	EFO	5	EFO	disease	Familial  hyperprolactinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397685	"" []	5182947	\N	\N	EFO	7	EFO	material property	Familial  hyperprolactinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397685	"" []	5998315	\N	\N	EFO	8	EFO	experimental factor	Familial  hyperprolactinemia
Orphanet:397692	\N	\N	"" []	Orphanet:397692	"" []	77193	\N	\N	EFO	0	EFO	Hereditary isolated aplastic anemia	Hereditary isolated aplastic anemia
Orphanet:68383	Orphanet:397692	\N	"" []	Orphanet:397692	"" []	220771	\N	\N	EFO	1	EFO	Rare constitutional medullar aplasia	Hereditary isolated aplastic anemia
Orphanet:182040	Orphanet:68383	\N	"" []	Orphanet:397692	"" []	576551	\N	\N	EFO	2	EFO	Medullar aplasia	Hereditary isolated aplastic anemia
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:397692	"" []	1159718	\N	\N	EFO	3	EFO	Rare constitutional anemia	Hereditary isolated aplastic anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:397692	"" []	2043083	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hereditary isolated aplastic anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397692	"" []	3193307	\N	\N	EFO	5	EFO	genetic disorder	Hereditary isolated aplastic anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:397692	"" []	3193308	\N	\N	EFO	5	EFO	hematological system disease	Hereditary isolated aplastic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397692	"" []	4399635	\N	\N	EFO	6	EFO	disease	Hereditary isolated aplastic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397692	"" []	4399636	\N	\N	EFO	6	EFO	disease	Hereditary isolated aplastic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397692	"" []	5416545	\N	\N	EFO	7	EFO	disposition	Hereditary isolated aplastic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397692	"" []	6151990	\N	\N	EFO	8	EFO	material property	Hereditary isolated aplastic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397692	"" []	6633872	\N	\N	EFO	9	EFO	experimental factor	Hereditary isolated aplastic anemia
Orphanet:397695	\N	\N	"" []	Orphanet:397695	"" []	77194	\N	\N	EFO	0	EFO	3q27.3 microdeletion syndrome	3q27.3 microdeletion syndrome
Orphanet:102283	Orphanet:397695	\N	"" []	Orphanet:397695	"" []	220772	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	3q27.3 microdeletion syndrome
Orphanet:183763	Orphanet:397695	\N	"" []	Orphanet:397695	"" []	220773	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	3q27.3 microdeletion syndrome
Orphanet:262019	Orphanet:397695	\N	"" []	Orphanet:397695	"" []	220774	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 3	3q27.3 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:397695	"" []	576552	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	3q27.3 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:397695	"" []	576553	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	3q27.3 microdeletion syndrome
Orphanet:261776	Orphanet:262019	\N	"" []	Orphanet:397695	"" []	576554	\N	\N	EFO	2	EFO	Partial deletion of chromosome 3	3q27.3 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:397695	"" []	1159719	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	3q27.3 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:397695	"" []	1159720	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	3q27.3 microdeletion syndrome
Orphanet:98142	Orphanet:261776	\N	"" []	Orphanet:397695	"" []	1159721	\N	\N	EFO	3	EFO	Partial autosomal monosomy	3q27.3 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397695	"" []	2043084	\N	\N	EFO	4	EFO	genetic disorder	3q27.3 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397695	"" []	2043085	\N	\N	EFO	4	EFO	genetic disorder	3q27.3 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:397695	"" []	2043086	\N	\N	EFO	4	EFO	Autosomal monosomy	3q27.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397695	"" []	6151992	\N	\N	EFO	8	EFO	disease	3q27.3 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:397695	"" []	3193310	\N	\N	EFO	5	EFO	Autosomal anomaly	3q27.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397695	"" []	6410226	\N	\N	EFO	9	EFO	disposition	3q27.3 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:397695	"" []	4399638	\N	\N	EFO	6	EFO	Chromosomal anomaly	3q27.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397695	"" []	6808062	\N	\N	EFO	10	EFO	material property	3q27.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397695	"" []	5416547	\N	\N	EFO	7	EFO	genetic disorder	3q27.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397695	"" []	7048755	\N	\N	EFO	11	EFO	experimental factor	3q27.3 microdeletion syndrome
Orphanet:397709	\N	\N	"" []	Orphanet:397709	"" []	77195	\N	\N	EFO	0	EFO	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Orphanet:102283	Orphanet:397709	\N	"" []	Orphanet:397709	"" []	220775	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Orphanet:183763	Orphanet:397709	\N	"" []	Orphanet:397709	"" []	220776	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Orphanet:269567	Orphanet:397709	\N	"" []	Orphanet:397709	"" []	220777	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:397709	"" []	576555	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:397709	"" []	576556	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:397709	"" []	576557	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:397709	"" []	1159722	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:397709	"" []	1159723	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:397709	"" []	1159724	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397709	"" []	3193312	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397709	"" []	3193313	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:397709	"" []	2043089	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:397709	"" []	2043090	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397709	"" []	4134062	\N	\N	EFO	6	EFO	disease	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397709	"" []	5182948	\N	\N	EFO	7	EFO	disposition	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397709	"" []	5998316	\N	\N	EFO	8	EFO	material property	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397709	"" []	6551524	\N	\N	EFO	9	EFO	experimental factor	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Orphanet:397715	\N	\N	"" []	Orphanet:397715	"" []	77196	\N	\N	EFO	0	EFO	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:140874	Orphanet:397715	\N	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	Orphanet:397715	"" []	220778	\N	\N	EFO	1	EFO	Joubert syndrome and related disorders	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:1505	Orphanet:397715	\N	"" []	Orphanet:397715	"" []	220779	\N	\N	EFO	1	EFO	Short rib-polydactyly syndrome	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:98095	Orphanet:140874	\N	"" []	Orphanet:397715	"" []	576558	\N	\N	EFO	2	EFO	Autosomal recessive congenital cerebellar ataxia	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:93426	Orphanet:1505	\N	"" []	Orphanet:397715	"" []	576559	\N	\N	EFO	2	EFO	Short rib dysplasia	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:397715	"" []	1159725	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:397715	"" []	1159726	\N	\N	EFO	3	EFO	Primary bone dysplasia	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:397715	"" []	2043091	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:397715	"" []	2043092	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:397715	"" []	2043093	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:397715	"" []	2043094	\N	\N	EFO	4	EFO	Rare genetic bone disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:397715	"" []	2043095	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:397715	"" []	3193314	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:397715	"" []	3193315	\N	\N	EFO	5	EFO	Ataxia with dementia	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:397715	"" []	3193316	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397715	"" []	3193317	\N	\N	EFO	5	EFO	genetic disorder	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:397715	"" []	3193318	\N	\N	EFO	5	EFO	bone disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:397715	"" []	3193319	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397715	"" []	6633874	\N	\N	EFO	9	EFO	genetic disorder	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:397715	"" []	4399641	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:397715	"" []	4399642	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397715	"" []	6808063	\N	\N	EFO	10	EFO	disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:397715	"" []	4399644	\N	\N	EFO	6	EFO	skeletal system disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397715	"" []	4399645	\N	\N	EFO	6	EFO	genetic disorder	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:397715	"" []	5416550	\N	\N	EFO	7	EFO	Genetic dementia	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:397715	"" []	5416551	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:397715	"" []	5416552	\N	\N	EFO	7	EFO	Rare genetic eye disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397715	"" []	7029972	\N	\N	EFO	11	EFO	disposition	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397715	"" []	5416554	\N	\N	EFO	7	EFO	disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:397715	"" []	6151994	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:397715	"" []	6151995	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:397715	"" []	6151996	\N	\N	EFO	8	EFO	neurodegenerative disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:397715	"" []	6151997	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:397715	"" []	6151998	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397715	"" []	6151999	\N	\N	EFO	8	EFO	genetic disorder	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:397715	"" []	6152000	\N	\N	EFO	8	EFO	eye disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397715	"" []	7181811	\N	\N	EFO	12	EFO	material property	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:397715	"" []	6633873	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:397715	"" []	6633875	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397715	"" []	6633877	\N	\N	EFO	9	EFO	disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397715	"" []	7279100	\N	\N	EFO	13	EFO	experimental factor	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397715	"" []	6926156	\N	\N	EFO	10	EFO	disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:397725	\N	\N	"" []	Orphanet:397725	"" []	77197	\N	\N	EFO	0	EFO	COASY protein-associated neurodegeneration	COASY protein-associated neurodegeneration
Orphanet:385	Orphanet:397725	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:397725	"" []	220780	\N	\N	EFO	1	EFO	Neurodegeneration with brain iron accumulation	COASY protein-associated neurodegeneration
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:397725	"" []	576560	\N	\N	EFO	2	EFO	Genetic dementia	COASY protein-associated neurodegeneration
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:397725	"" []	576561	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	COASY protein-associated neurodegeneration
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:397725	"" []	576562	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	COASY protein-associated neurodegeneration
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:397725	"" []	576563	\N	\N	EFO	2	EFO	Neurometabolic disease	COASY protein-associated neurodegeneration
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:397725	"" []	1159727	\N	\N	EFO	3	EFO	brain disease	COASY protein-associated neurodegeneration
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:397725	"" []	1159728	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	COASY protein-associated neurodegeneration
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:397725	"" []	1159729	\N	\N	EFO	3	EFO	neurodegenerative disease	COASY protein-associated neurodegeneration
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:397725	"" []	1159730	\N	\N	EFO	3	EFO	brain disease	COASY protein-associated neurodegeneration
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:397725	"" []	1159731	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	COASY protein-associated neurodegeneration
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:397725	"" []	1159732	\N	\N	EFO	3	EFO	neurodegenerative disease	COASY protein-associated neurodegeneration
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:397725	"" []	1159733	\N	\N	EFO	3	EFO	Rare genetic movement disorder	COASY protein-associated neurodegeneration
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:397725	"" []	1159734	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	COASY protein-associated neurodegeneration
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:397725	"" []	2043096	\N	\N	EFO	4	EFO	nervous system disease	COASY protein-associated neurodegeneration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397725	"" []	3193323	\N	\N	EFO	5	EFO	genetic disorder	COASY protein-associated neurodegeneration
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:397725	"" []	2043098	\N	\N	EFO	4	EFO	nervous system disease	COASY protein-associated neurodegeneration
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:397725	"" []	2043099	\N	\N	EFO	4	EFO	movement disorder	COASY protein-associated neurodegeneration
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:397725	"" []	2043100	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	COASY protein-associated neurodegeneration
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397725	"" []	4399647	\N	\N	EFO	6	EFO	disease	COASY protein-associated neurodegeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397725	"" []	4134063	\N	\N	EFO	6	EFO	disease	COASY protein-associated neurodegeneration
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:397725	"" []	3193322	\N	\N	EFO	5	EFO	nervous system disease	COASY protein-associated neurodegeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397725	"" []	5182949	\N	\N	EFO	7	EFO	disposition	COASY protein-associated neurodegeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397725	"" []	5998318	\N	\N	EFO	8	EFO	material property	COASY protein-associated neurodegeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397725	"" []	6551526	\N	\N	EFO	9	EFO	experimental factor	COASY protein-associated neurodegeneration
Orphanet:397735	\N	\N	"" []	Orphanet:397735	"" []	77198	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
Orphanet:64746	Orphanet:397735	\N	"" []	Orphanet:397735	"" []	220781	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:397735	"" []	576564	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:397735	"" []	576565	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:397735	"" []	1159735	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:397735	"" []	1159736	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:397735	"" []	2043101	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:397735	"" []	2043102	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:397735	"" []	3193325	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:397735	"" []	3193324	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397735	"" []	4134064	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:397735	"" []	4399648	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397735	"" []	5182950	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397735	"" []	5416556	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397735	"" []	5998319	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397735	"" []	6551527	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397735	"" []	6889466	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
Orphanet:397744	\N	\N	"" []	Orphanet:397744	"" []	77199	\N	\N	EFO	0	EFO	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:140465	Orphanet:397744	\N	"" []	Orphanet:397744	"" []	220782	\N	\N	EFO	1	EFO	Autosomal dominant distal hereditary motor neuropathy	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:206650	Orphanet:397744	\N	"" []	Orphanet:397744	"" []	220783	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:90642	Orphanet:397744	\N	"" []	Orphanet:397744	"" []	220784	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:206713	Orphanet:140465	\N	"" []	Orphanet:397744	"" []	576566	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:53739	Orphanet:140465	\N	"" []	Orphanet:397744	"" []	576567	\N	\N	EFO	2	EFO	Distal hereditary motor neuropathy	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:397744	"" []	576568	\N	\N	EFO	2	EFO	Distal myopathy	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:397744	"" []	576569	\N	\N	EFO	2	EFO	Rare genetic deafness	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:397744	"" []	1159737	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:397744	"" []	1159738	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:397744	"" []	1159739	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397744	"" []	1159740	\N	\N	EFO	3	EFO	genetic disorder	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:397744	"" []	1159741	\N	\N	EFO	3	EFO	auditory system disease	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:397744	"" []	2043104	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:397744	"" []	2043105	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:397744	"" []	2043106	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397744	"" []	5182951	\N	\N	EFO	7	EFO	disease	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:397744	"" []	2043108	\N	\N	EFO	4	EFO	sensory system disease	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:397744	"" []	3193327	\N	\N	EFO	5	EFO	muscular disease	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:397744	"" []	3193328	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397744	"" []	4399651	\N	\N	EFO	6	EFO	genetic disorder	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397744	"" []	5817755	\N	\N	EFO	8	EFO	disposition	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:397744	"" []	3193331	\N	\N	EFO	5	EFO	nervous system disease	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:397744	"" []	4399650	\N	\N	EFO	6	EFO	skeletal system disease	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397744	"" []	6410227	\N	\N	EFO	9	EFO	material property	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397744	"" []	4399654	\N	\N	EFO	6	EFO	disease	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397744	"" []	5416558	\N	\N	EFO	7	EFO	disease	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397744	"" []	6808065	\N	\N	EFO	10	EFO	experimental factor	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Orphanet:397750	\N	\N	"" []	Orphanet:397750	"" []	77200	\N	\N	EFO	0	EFO	Periodic paralysis with later-onset distal motor neuropathy	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:254776	Orphanet:397750	\N	"" []	Orphanet:397750	"" []	220785	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:371433	Orphanet:397750	\N	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	Orphanet:397750	"" []	220786	\N	\N	EFO	1	EFO	Genetic periodic paralysis	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:397750	"" []	576570	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:206634	Orphanet:371433	\N	"" []	Orphanet:397750	"" []	576571	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:397750	"" []	1159742	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:397750	"" []	1159743	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:397750	"" []	2043109	\N	\N	EFO	4	EFO	Mitochondrial disease	Periodic paralysis with later-onset distal motor neuropathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:397750	"" []	2043110	\N	\N	EFO	4	EFO	muscular disease	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:397750	"" []	2043111	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:397750	"" []	3193332	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:397750	"" []	3193333	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Periodic paralysis with later-onset distal motor neuropathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:397750	"" []	3193334	\N	\N	EFO	5	EFO	skeletal system disease	Periodic paralysis with later-onset distal motor neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397750	"" []	3193335	\N	\N	EFO	5	EFO	genetic disorder	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:397750	"" []	4399655	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:397750	"" []	4399656	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Periodic paralysis with later-onset distal motor neuropathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397750	"" []	4399657	\N	\N	EFO	6	EFO	disease	Periodic paralysis with later-onset distal motor neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397750	"" []	6152004	\N	\N	EFO	8	EFO	disease	Periodic paralysis with later-onset distal motor neuropathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397750	"" []	5416560	\N	\N	EFO	7	EFO	genetic disorder	Periodic paralysis with later-onset distal motor neuropathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397750	"" []	5416561	\N	\N	EFO	7	EFO	genetic disorder	Periodic paralysis with later-onset distal motor neuropathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:397750	"" []	5416562	\N	\N	EFO	7	EFO	metabolic disease	Periodic paralysis with later-onset distal motor neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397750	"" []	6470747	\N	\N	EFO	9	EFO	disposition	Periodic paralysis with later-onset distal motor neuropathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397750	"" []	6152005	\N	\N	EFO	8	EFO	disease	Periodic paralysis with later-onset distal motor neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397750	"" []	6848697	\N	\N	EFO	10	EFO	material property	Periodic paralysis with later-onset distal motor neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397750	"" []	7068505	\N	\N	EFO	11	EFO	experimental factor	Periodic paralysis with later-onset distal motor neuropathy
Orphanet:397755	\N	\N	"" []	Orphanet:397755	"" []	77201	\N	\N	EFO	0	EFO	Periodic paralysis with transient compartment-like syndrome	Periodic paralysis with transient compartment-like syndrome
Orphanet:352298	Orphanet:397755	\N	"" []	Orphanet:397755	"" []	220787	\N	\N	EFO	1	EFO	Genetic muscular channelopathy	Periodic paralysis with transient compartment-like syndrome
Orphanet:371433	Orphanet:397755	\N	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	Orphanet:397755	"" []	220788	\N	\N	EFO	1	EFO	Genetic periodic paralysis	Periodic paralysis with transient compartment-like syndrome
Orphanet:183497	Orphanet:352298	\N	"" []	Orphanet:397755	"" []	576572	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Periodic paralysis with transient compartment-like syndrome
Orphanet:206634	Orphanet:371433	\N	"" []	Orphanet:397755	"" []	576573	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Periodic paralysis with transient compartment-like syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:397755	"" []	2043114	\N	\N	EFO	4	EFO	muscular disease	Periodic paralysis with transient compartment-like syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:397755	"" []	2043115	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Periodic paralysis with transient compartment-like syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:397755	"" []	1159746	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Periodic paralysis with transient compartment-like syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:397755	"" []	3000358	\N	\N	EFO	5	EFO	skeletal system disease	Periodic paralysis with transient compartment-like syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397755	"" []	3000359	\N	\N	EFO	5	EFO	genetic disorder	Periodic paralysis with transient compartment-like syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397755	"" []	4134065	\N	\N	EFO	6	EFO	disease	Periodic paralysis with transient compartment-like syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397755	"" []	4134066	\N	\N	EFO	6	EFO	disease	Periodic paralysis with transient compartment-like syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397755	"" []	5182952	\N	\N	EFO	7	EFO	disposition	Periodic paralysis with transient compartment-like syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397755	"" []	5998320	\N	\N	EFO	8	EFO	material property	Periodic paralysis with transient compartment-like syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397755	"" []	6551528	\N	\N	EFO	9	EFO	experimental factor	Periodic paralysis with transient compartment-like syndrome
Orphanet:397758	\N	\N	"" []	Orphanet:397758	"" []	77202	\N	\N	EFO	0	EFO	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Orphanet:71862	Orphanet:397758	\N	"" []	Orphanet:397758	"" []	220789	\N	\N	EFO	1	EFO	Retinal dystrophy	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:397758	"" []	576574	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:397758	"" []	1159747	\N	\N	EFO	3	EFO	Rare genetic eye disease	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397758	"" []	2043116	\N	\N	EFO	4	EFO	genetic disorder	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:397758	"" []	2043117	\N	\N	EFO	4	EFO	eye disease	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397758	"" []	3193338	\N	\N	EFO	5	EFO	disease	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397758	"" []	3193339	\N	\N	EFO	5	EFO	disease	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397758	"" []	4399660	\N	\N	EFO	6	EFO	disposition	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397758	"" []	5416565	\N	\N	EFO	7	EFO	material property	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397758	"" []	6152008	\N	\N	EFO	8	EFO	experimental factor	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Orphanet:397787	\N	\N	"" []	Orphanet:397787	"" []	77203	\N	\N	EFO	0	EFO	Severe combined immunodeficiency due to IKK2 deficiency	Severe combined immunodeficiency due to IKK2 deficiency
Orphanet:397802	Orphanet:397787	\N	"" []	Orphanet:397787	"" []	220790	\N	\N	EFO	1	EFO	T+ B+ severe combined immunodeficiency	Severe combined immunodeficiency due to IKK2 deficiency
Orphanet:183660	Orphanet:397802	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:397787	"" []	576575	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	Severe combined immunodeficiency due to IKK2 deficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:397787	"" []	1159748	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	Severe combined immunodeficiency due to IKK2 deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:397787	"" []	2043118	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Severe combined immunodeficiency due to IKK2 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:397787	"" []	3193340	\N	\N	EFO	5	EFO	Primary immunodeficiency	Severe combined immunodeficiency due to IKK2 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:397787	"" []	4399661	\N	\N	EFO	6	EFO	Rare genetic immune disease	Severe combined immunodeficiency due to IKK2 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397787	"" []	5416566	\N	\N	EFO	7	EFO	genetic disorder	Severe combined immunodeficiency due to IKK2 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:397787	"" []	5416567	\N	\N	EFO	7	EFO	immune system disease	Severe combined immunodeficiency due to IKK2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397787	"" []	6152009	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to IKK2 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397787	"" []	6152010	\N	\N	EFO	8	EFO	disease	Severe combined immunodeficiency due to IKK2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397787	"" []	6633881	\N	\N	EFO	9	EFO	disposition	Severe combined immunodeficiency due to IKK2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397787	"" []	6926157	\N	\N	EFO	10	EFO	material property	Severe combined immunodeficiency due to IKK2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397787	"" []	7099296	\N	\N	EFO	11	EFO	experimental factor	Severe combined immunodeficiency due to IKK2 deficiency
Orphanet:397802	\N	\N	"" []	Orphanet:397802	"" []	77204	\N	\N	EFO	0	EFO	T+ B+ severe combined immunodeficiency	T+ B+ severe combined immunodeficiency
Orphanet:183660	Orphanet:397802	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:397802	"" []	220791	\N	\N	EFO	1	EFO	Severe combined immunodeficiency	T+ B+ severe combined immunodeficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:397802	"" []	576576	\N	\N	EFO	2	EFO	Combined T and B cell immunodeficiency	T+ B+ severe combined immunodeficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:397802	"" []	1159749	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	T+ B+ severe combined immunodeficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:397802	"" []	2043119	\N	\N	EFO	4	EFO	Primary immunodeficiency	T+ B+ severe combined immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:397802	"" []	3193341	\N	\N	EFO	5	EFO	Rare genetic immune disease	T+ B+ severe combined immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397802	"" []	4399662	\N	\N	EFO	6	EFO	genetic disorder	T+ B+ severe combined immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:397802	"" []	4399663	\N	\N	EFO	6	EFO	immune system disease	T+ B+ severe combined immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397802	"" []	5416568	\N	\N	EFO	7	EFO	disease	T+ B+ severe combined immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397802	"" []	5416569	\N	\N	EFO	7	EFO	disease	T+ B+ severe combined immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397802	"" []	6152011	\N	\N	EFO	8	EFO	disposition	T+ B+ severe combined immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397802	"" []	6633882	\N	\N	EFO	9	EFO	material property	T+ B+ severe combined immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397802	"" []	6926158	\N	\N	EFO	10	EFO	experimental factor	T+ B+ severe combined immunodeficiency
Orphanet:397922	\N	\N	"" []	Orphanet:397922	"" []	77205	\N	\N	EFO	0	EFO	Ferro-cerebro-cutaneous syndrome	Ferro-cerebro-cutaneous syndrome
Orphanet:156604	Orphanet:397922	\N	"" []	Orphanet:397922	"" []	220792	\N	\N	EFO	1	EFO	Genetic parenchymatous liver disease	Ferro-cerebro-cutaneous syndrome
Orphanet:183500	Orphanet:397922	\N	"" []	Orphanet:397922	"" []	220793	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Ferro-cerebro-cutaneous syndrome
Orphanet:156601	Orphanet:156604	\N	"" []	Orphanet:397922	"" []	576577	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Ferro-cerebro-cutaneous syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:397922	"" []	576578	\N	\N	EFO	2	EFO	neurodegenerative disease	Ferro-cerebro-cutaneous syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:397922	"" []	576579	\N	\N	EFO	2	EFO	brain disease	Ferro-cerebro-cutaneous syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:397922	"" []	576580	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Ferro-cerebro-cutaneous syndrome
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:397922	"" []	1159750	\N	\N	EFO	3	EFO	digestive system disease	Ferro-cerebro-cutaneous syndrome
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397922	"" []	1159751	\N	\N	EFO	3	EFO	genetic disorder	Ferro-cerebro-cutaneous syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:397922	"" []	1159752	\N	\N	EFO	3	EFO	nervous system disease	Ferro-cerebro-cutaneous syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:397922	"" []	1159753	\N	\N	EFO	3	EFO	nervous system disease	Ferro-cerebro-cutaneous syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397922	"" []	1159754	\N	\N	EFO	3	EFO	genetic disorder	Ferro-cerebro-cutaneous syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397922	"" []	2043120	\N	\N	EFO	4	EFO	disease	Ferro-cerebro-cutaneous syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397922	"" []	2043121	\N	\N	EFO	4	EFO	disease	Ferro-cerebro-cutaneous syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397922	"" []	2043122	\N	\N	EFO	4	EFO	disease	Ferro-cerebro-cutaneous syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397922	"" []	3193342	\N	\N	EFO	5	EFO	disposition	Ferro-cerebro-cutaneous syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397922	"" []	4399664	\N	\N	EFO	6	EFO	material property	Ferro-cerebro-cutaneous syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397922	"" []	5416570	\N	\N	EFO	7	EFO	experimental factor	Ferro-cerebro-cutaneous syndrome
Orphanet:397927	\N	\N	"" []	Orphanet:397927	"" []	77206	\N	\N	EFO	0	EFO	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Orphanet:268843	Orphanet:397927	\N	"" []	Orphanet:397927	"" []	220794	\N	\N	EFO	1	EFO	Malformation of the neurenteric canal, spinal cord and column	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Orphanet:3388	Orphanet:268843	\N	"" []	Orphanet:397927	"" []	576581	\N	\N	EFO	2	EFO	Neural tube defect	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:397927	"" []	1159755	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:397927	"" []	2043123	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:397927	"" []	3193343	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:397927	"" []	3193344	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397927	"" []	4399665	\N	\N	EFO	6	EFO	genetic disorder	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397927	"" []	4399666	\N	\N	EFO	6	EFO	genetic disorder	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397927	"" []	5416571	\N	\N	EFO	7	EFO	disease	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397927	"" []	6152012	\N	\N	EFO	8	EFO	disposition	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397927	"" []	6633883	\N	\N	EFO	9	EFO	material property	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397927	"" []	6926159	\N	\N	EFO	10	EFO	experimental factor	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Orphanet:397933	\N	\N	"" []	Orphanet:397933	"" []	77207	\N	\N	EFO	0	EFO	Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome	Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
Orphanet:98464	Orphanet:397933	\N	"" []	Orphanet:397933	"" []	220795	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:397933	"" []	576582	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:397933	"" []	1159756	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:397933	"" []	2043124	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397933	"" []	3193345	\N	\N	EFO	5	EFO	genetic disorder	Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397933	"" []	4399667	\N	\N	EFO	6	EFO	disease	Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397933	"" []	5416572	\N	\N	EFO	7	EFO	disposition	Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397933	"" []	6152013	\N	\N	EFO	8	EFO	material property	Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397933	"" []	6633884	\N	\N	EFO	9	EFO	experimental factor	Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
Orphanet:397937	\N	\N	"" []	Orphanet:397937	"" []	77208	\N	\N	EFO	0	EFO	Polyglucosan body myopathy	Polyglucosan body myopathy
Orphanet:206959	Orphanet:397937	\N	"" []	Orphanet:397937	"" []	220796	\N	\N	EFO	1	EFO	Muscular glycogenosis	Polyglucosan body myopathy
Orphanet:217610	Orphanet:397937	\N	"" []	Orphanet:397937	"" []	220797	\N	\N	EFO	1	EFO	Neuromuscular disease with dilated cardiomyopathy	Polyglucosan body myopathy
Orphanet:79201	Orphanet:397937	\N	"" []	Orphanet:397937	"" []	220798	\N	\N	EFO	1	EFO	Glycogen storage disease	Polyglucosan body myopathy
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:397937	"" []	576583	\N	\N	EFO	2	EFO	Metabolic myopathy	Polyglucosan body myopathy
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:397937	"" []	576584	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Polyglucosan body myopathy
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:397937	"" []	576585	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Polyglucosan body myopathy
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:397937	"" []	1159757	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Polyglucosan body myopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:397937	"" []	1159758	\N	\N	EFO	3	EFO	cardiomyopathy	Polyglucosan body myopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:397937	"" []	1159759	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Polyglucosan body myopathy
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:397937	"" []	1159760	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Polyglucosan body myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:397937	"" []	2043125	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Polyglucosan body myopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:397937	"" []	2043126	\N	\N	EFO	4	EFO	heart disease	Polyglucosan body myopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397937	"" []	2043127	\N	\N	EFO	4	EFO	genetic disorder	Polyglucosan body myopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:397937	"" []	2043128	\N	\N	EFO	4	EFO	heart disease	Polyglucosan body myopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397937	"" []	2043129	\N	\N	EFO	4	EFO	genetic disorder	Polyglucosan body myopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:397937	"" []	2043130	\N	\N	EFO	4	EFO	metabolic disease	Polyglucosan body myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:397937	"" []	3193346	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Polyglucosan body myopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:397937	"" []	3193347	\N	\N	EFO	5	EFO	cardiovascular disease	Polyglucosan body myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397937	"" []	6152015	\N	\N	EFO	8	EFO	disease	Polyglucosan body myopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397937	"" []	3193349	\N	\N	EFO	5	EFO	disease	Polyglucosan body myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:397937	"" []	4399668	\N	\N	EFO	6	EFO	muscular disease	Polyglucosan body myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:397937	"" []	4399669	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Polyglucosan body myopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397937	"" []	4399670	\N	\N	EFO	6	EFO	disease	Polyglucosan body myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397937	"" []	6410228	\N	\N	EFO	9	EFO	disposition	Polyglucosan body myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:397937	"" []	5416573	\N	\N	EFO	7	EFO	skeletal system disease	Polyglucosan body myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397937	"" []	5416574	\N	\N	EFO	7	EFO	genetic disorder	Polyglucosan body myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397937	"" []	6808066	\N	\N	EFO	10	EFO	material property	Polyglucosan body myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397937	"" []	6152014	\N	\N	EFO	8	EFO	disease	Polyglucosan body myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397937	"" []	7048757	\N	\N	EFO	11	EFO	experimental factor	Polyglucosan body myopathy
Orphanet:397941	\N	\N	"" []	Orphanet:397941	"" []	77209	\N	\N	EFO	0	EFO	MAN1B1-CDG	MAN1B1-CDG
Orphanet:309347	Orphanet:397941	\N	"" []	Orphanet:397941	"" []	220799	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	MAN1B1-CDG
Orphanet:371064	Orphanet:397941	\N	"" []	Orphanet:397941	"" []	220800	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	MAN1B1-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:397941	"" []	576586	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	MAN1B1-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:397941	"" []	576587	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	MAN1B1-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:397941	"" []	576588	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	MAN1B1-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:397941	"" []	1159761	\N	\N	EFO	3	EFO	Inborn errors of metabolism	MAN1B1-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:397941	"" []	1159762	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	MAN1B1-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:397941	"" []	1159763	\N	\N	EFO	3	EFO	Neurometabolic disease	MAN1B1-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397941	"" []	2043131	\N	\N	EFO	4	EFO	genetic disorder	MAN1B1-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:397941	"" []	2043132	\N	\N	EFO	4	EFO	metabolic disease	MAN1B1-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:397941	"" []	2043133	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	MAN1B1-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:397941	"" []	2043134	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	MAN1B1-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397941	"" []	5182954	\N	\N	EFO	7	EFO	disease	MAN1B1-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397941	"" []	3193351	\N	\N	EFO	5	EFO	disease	MAN1B1-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:397941	"" []	3193352	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	MAN1B1-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397941	"" []	4399673	\N	\N	EFO	6	EFO	genetic disorder	MAN1B1-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397941	"" []	5877508	\N	\N	EFO	8	EFO	disposition	MAN1B1-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397941	"" []	6470748	\N	\N	EFO	9	EFO	material property	MAN1B1-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397941	"" []	6848698	\N	\N	EFO	10	EFO	experimental factor	MAN1B1-CDG
Orphanet:397946	\N	\N	"" []	Orphanet:397946	"" []	77210	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 58	Autosomal recessive spastic paraplegia type 58
Orphanet:100981	Orphanet:397946	\N	"" []	Orphanet:397946	"" []	220801	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 58
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:397946	"" []	576589	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 58
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:397946	"" []	1159764	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 58
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:397946	"" []	2043135	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 58
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:397946	"" []	3193354	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 58
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:397946	"" []	3193355	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 58
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:397946	"" []	3193356	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 58
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:397946	"" []	4399675	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 58
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:397946	"" []	4399676	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 58
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397946	"" []	4399677	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 58
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397946	"" []	5416578	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 58
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397946	"" []	5416579	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 58
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397946	"" []	6152018	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 58
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397946	"" []	6633885	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 58
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397946	"" []	6926160	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 58
Orphanet:397951	\N	\N	"" []	Orphanet:397951	"" []	77211	\N	\N	EFO	0	EFO	Microcephaly-thin corpus callosum-intellectual disability syndrome	Microcephaly-thin corpus callosum-intellectual disability syndrome
Orphanet:102283	Orphanet:397951	\N	"" []	Orphanet:397951	"" []	220802	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephaly-thin corpus callosum-intellectual disability syndrome
Orphanet:183763	Orphanet:397951	\N	"" []	Orphanet:397951	"" []	220803	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephaly-thin corpus callosum-intellectual disability syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:397951	"" []	576590	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephaly-thin corpus callosum-intellectual disability syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:397951	"" []	576591	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microcephaly-thin corpus callosum-intellectual disability syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:397951	"" []	1159765	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microcephaly-thin corpus callosum-intellectual disability syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:397951	"" []	1159766	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microcephaly-thin corpus callosum-intellectual disability syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397951	"" []	2043136	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly-thin corpus callosum-intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397951	"" []	2043137	\N	\N	EFO	4	EFO	genetic disorder	Microcephaly-thin corpus callosum-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397951	"" []	3193357	\N	\N	EFO	5	EFO	disease	Microcephaly-thin corpus callosum-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397951	"" []	4399678	\N	\N	EFO	6	EFO	disposition	Microcephaly-thin corpus callosum-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397951	"" []	5416580	\N	\N	EFO	7	EFO	material property	Microcephaly-thin corpus callosum-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397951	"" []	6152019	\N	\N	EFO	8	EFO	experimental factor	Microcephaly-thin corpus callosum-intellectual disability syndrome
Orphanet:397959	\N	\N	"" []	Orphanet:397959	"" []	77212	\N	\N	EFO	0	EFO	TCR-alpha-beta-positive T-cell deficiency	TCR-alpha-beta-positive T-cell deficiency
Orphanet:169355	Orphanet:397959	\N	"" []	Orphanet:397959	"" []	220804	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with autoimmunity	TCR-alpha-beta-positive T-cell deficiency
Orphanet:169361	Orphanet:169355	\N	"" []	Orphanet:397959	"" []	576592	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	TCR-alpha-beta-positive T-cell deficiency
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:397959	"" []	1159767	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	TCR-alpha-beta-positive T-cell deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:397959	"" []	2043138	\N	\N	EFO	4	EFO	Primary immunodeficiency	TCR-alpha-beta-positive T-cell deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:397959	"" []	3193358	\N	\N	EFO	5	EFO	Rare genetic immune disease	TCR-alpha-beta-positive T-cell deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397959	"" []	4399679	\N	\N	EFO	6	EFO	genetic disorder	TCR-alpha-beta-positive T-cell deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:397959	"" []	4399680	\N	\N	EFO	6	EFO	immune system disease	TCR-alpha-beta-positive T-cell deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397959	"" []	5416581	\N	\N	EFO	7	EFO	disease	TCR-alpha-beta-positive T-cell deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397959	"" []	5416582	\N	\N	EFO	7	EFO	disease	TCR-alpha-beta-positive T-cell deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397959	"" []	6152020	\N	\N	EFO	8	EFO	disposition	TCR-alpha-beta-positive T-cell deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397959	"" []	6633886	\N	\N	EFO	9	EFO	material property	TCR-alpha-beta-positive T-cell deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397959	"" []	6926161	\N	\N	EFO	10	EFO	experimental factor	TCR-alpha-beta-positive T-cell deficiency
Orphanet:397964	\N	\N	"" []	Orphanet:397964	"" []	77213	\N	\N	EFO	0	EFO	Combined immunodeficiency due to MALT1 deficiency	Combined immunodeficiency due to MALT1 deficiency
Orphanet:101972	Orphanet:397964	\N	"" []	Orphanet:397964	"" []	220805	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Combined immunodeficiency due to MALT1 deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:397964	"" []	576593	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined immunodeficiency due to MALT1 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:397964	"" []	1159768	\N	\N	EFO	3	EFO	Primary immunodeficiency	Combined immunodeficiency due to MALT1 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:397964	"" []	2043139	\N	\N	EFO	4	EFO	Rare genetic immune disease	Combined immunodeficiency due to MALT1 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397964	"" []	3193359	\N	\N	EFO	5	EFO	genetic disorder	Combined immunodeficiency due to MALT1 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:397964	"" []	3193360	\N	\N	EFO	5	EFO	immune system disease	Combined immunodeficiency due to MALT1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397964	"" []	4399681	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency due to MALT1 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397964	"" []	4399682	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency due to MALT1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397964	"" []	5416583	\N	\N	EFO	7	EFO	disposition	Combined immunodeficiency due to MALT1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397964	"" []	6152021	\N	\N	EFO	8	EFO	material property	Combined immunodeficiency due to MALT1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397964	"" []	6633887	\N	\N	EFO	9	EFO	experimental factor	Combined immunodeficiency due to MALT1 deficiency
Orphanet:397968	\N	\N	"" []	Orphanet:397968	"" []	77214	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 2R	Charcot-Marie-Tooth disease type 2R
Orphanet:91024	Orphanet:397968	\N	"" []	Orphanet:397968	"" []	220806	\N	\N	EFO	1	EFO	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2	Charcot-Marie-Tooth disease type 2R
Orphanet:140450	Orphanet:91024	\N	"" []	Orphanet:397968	"" []	576594	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 2R
Orphanet:166	Orphanet:91024	\N	"" []	Orphanet:397968	"" []	576595	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 2R
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:397968	"" []	1159769	\N	\N	EFO	3	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 2R
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:397968	"" []	1159770	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 2R
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:397968	"" []	1159771	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 2R
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:397968	"" []	2043140	\N	\N	EFO	4	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 2R
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:397968	"" []	2043141	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 2R
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:397968	"" []	3193361	\N	\N	EFO	5	EFO	nervous system disease	Charcot-Marie-Tooth disease type 2R
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397968	"" []	3193362	\N	\N	EFO	5	EFO	genetic disorder	Charcot-Marie-Tooth disease type 2R
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397968	"" []	4399683	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease type 2R
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397968	"" []	4399684	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease type 2R
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397968	"" []	5416584	\N	\N	EFO	7	EFO	disposition	Charcot-Marie-Tooth disease type 2R
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397968	"" []	6152022	\N	\N	EFO	8	EFO	material property	Charcot-Marie-Tooth disease type 2R
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397968	"" []	6633888	\N	\N	EFO	9	EFO	experimental factor	Charcot-Marie-Tooth disease type 2R
Orphanet:397973	\N	\N	"" []	Orphanet:397973	"" []	77215	\N	\N	EFO	0	EFO	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Orphanet:102283	Orphanet:397973	\N	"" []	Orphanet:397973	"" []	220807	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Orphanet:183763	Orphanet:397973	\N	"" []	Orphanet:397973	"" []	220808	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Orphanet:240371	Orphanet:397973	\N	"" []	Orphanet:397973	"" []	220809	\N	\N	EFO	1	EFO	Syndromic obesity	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:397973	"" []	576596	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:397973	"" []	576597	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:397973	"" []	576598	\N	\N	EFO	2	EFO	Genetic obesity	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:397973	"" []	1159772	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:397973	"" []	1159773	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:397973	"" []	1159774	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:397973	"" []	1159775	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397973	"" []	3193365	\N	\N	EFO	5	EFO	genetic disorder	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397973	"" []	2043143	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:397973	"" []	2043144	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:397973	"" []	2043145	\N	\N	EFO	4	EFO	endocrine system disease	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:397973	"" []	2043146	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397973	"" []	4134067	\N	\N	EFO	6	EFO	disease	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:397973	"" []	3193364	\N	\N	EFO	5	EFO	disease	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:397973	"" []	5182955	\N	\N	EFO	7	EFO	disposition	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:397973	"" []	5998323	\N	\N	EFO	8	EFO	material property	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:397973	"" []	6551531	\N	\N	EFO	9	EFO	experimental factor	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Orphanet:398069	\N	\N	"" []	Orphanet:398069	"" []	77216	\N	\N	EFO	0	EFO	Prader-Willi syndrome due to point mutation	Prader-Willi syndrome due to point mutation
Orphanet:739	Orphanet:398069	\N	"" []	Orphanet:398069	"" []	220810	\N	\N	EFO	1	EFO	Prader-Willi syndrome	Prader-Willi syndrome due to point mutation
Orphanet:181387	Orphanet:739	\N	"" []	Orphanet:398069	"" []	576599	\N	\N	EFO	2	EFO	Rare disorder with hypogonadotropic hypogonadism	Prader-Willi syndrome due to point mutation
Orphanet:240371	Orphanet:739	\N	"" []	Orphanet:398069	"" []	576600	\N	\N	EFO	2	EFO	Syndromic obesity	Prader-Willi syndrome due to point mutation
Orphanet:330197	Orphanet:739	\N	"" []	Orphanet:398069	"" []	576601	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Prader-Willi syndrome due to point mutation
Orphanet:399846	Orphanet:739	\N	"" []	Orphanet:398069	"" []	576602	\N	\N	EFO	2	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to point mutation
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:398069	"" []	1159776	\N	\N	EFO	3	EFO	Congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to point mutation
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:398069	"" []	1159777	\N	\N	EFO	3	EFO	Genetic obesity	Prader-Willi syndrome due to point mutation
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:398069	"" []	1159778	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Prader-Willi syndrome due to point mutation
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:398069	"" []	1159779	\N	\N	EFO	3	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to point mutation
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:398069	"" []	2043147	\N	\N	EFO	4	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Prader-Willi syndrome due to point mutation
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:398069	"" []	2043148	\N	\N	EFO	4	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to point mutation
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:398069	"" []	2043149	\N	\N	EFO	4	EFO	Non-acquired pituitary hormone deficiency	Prader-Willi syndrome due to point mutation
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:398069	"" []	2043150	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to point mutation
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:398069	"" []	2043151	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Prader-Willi syndrome due to point mutation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:398069	"" []	2043152	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to point mutation
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:398069	"" []	2043153	\N	\N	EFO	4	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to point mutation
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:398069	"" []	3193366	\N	\N	EFO	5	EFO	Rare genetic gynecological and obstetrical diseases	Prader-Willi syndrome due to point mutation
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:398069	"" []	3193367	\N	\N	EFO	5	EFO	Rare genetic male infertility	Prader-Willi syndrome due to point mutation
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:398069	"" []	3193368	\N	\N	EFO	5	EFO	Pituitary deficiency	Prader-Willi syndrome due to point mutation
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398069	"" []	6152026	\N	\N	EFO	8	EFO	genetic disorder	Prader-Willi syndrome due to point mutation
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:398069	"" []	6152027	\N	\N	EFO	8	EFO	endocrine system disease	Prader-Willi syndrome due to point mutation
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:398069	"" []	3193371	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to point mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398069	"" []	4399692	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi syndrome due to point mutation
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:398069	"" []	3193373	\N	\N	EFO	5	EFO	Rare genetic female infertility	Prader-Willi syndrome due to point mutation
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398069	"" []	4399686	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi syndrome due to point mutation
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:398069	"" []	4399687	\N	\N	EFO	6	EFO	reproductive system disease	Prader-Willi syndrome due to point mutation
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:398069	"" []	4399688	\N	\N	EFO	6	EFO	Genetic infertility	Prader-Willi syndrome due to point mutation
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:398069	"" []	4399689	\N	\N	EFO	6	EFO	Rare genetic hypothalamic or pituitary disease	Prader-Willi syndrome due to point mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398069	"" []	6410229	\N	\N	EFO	9	EFO	disease	Prader-Willi syndrome due to point mutation
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398069	"" []	6410230	\N	\N	EFO	9	EFO	disease	Prader-Willi syndrome due to point mutation
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:398069	"" []	4399693	\N	\N	EFO	6	EFO	Genetic infertility	Prader-Willi syndrome due to point mutation
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398069	"" []	6152025	\N	\N	EFO	8	EFO	disease	Prader-Willi syndrome due to point mutation
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398069	"" []	5416587	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi syndrome due to point mutation
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:398069	"" []	5416588	\N	\N	EFO	7	EFO	reproductive system disease	Prader-Willi syndrome due to point mutation
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:398069	"" []	5416589	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to point mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:398069	"" []	6808067	\N	\N	EFO	10	EFO	disposition	Prader-Willi syndrome due to point mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:398069	"" []	7048758	\N	\N	EFO	11	EFO	material property	Prader-Willi syndrome due to point mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:398069	"" []	7190249	\N	\N	EFO	12	EFO	experimental factor	Prader-Willi syndrome due to point mutation
Orphanet:398073	\N	\N	"" []	Orphanet:398073	"" []	77217	\N	\N	EFO	0	EFO	Prader-Willi-like syndrome	Prader-Willi-like syndrome
Orphanet:181387	Orphanet:398073	\N	"" []	Orphanet:398073	"" []	220811	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Prader-Willi-like syndrome
Orphanet:240371	Orphanet:398073	\N	"" []	Orphanet:398073	"" []	220812	\N	\N	EFO	1	EFO	Syndromic obesity	Prader-Willi-like syndrome
Orphanet:330197	Orphanet:398073	\N	"" []	Orphanet:398073	"" []	220813	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Prader-Willi-like syndrome
Orphanet:399846	Orphanet:398073	\N	"" []	Orphanet:398073	"" []	220814	\N	\N	EFO	1	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi-like syndrome
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:398073	"" []	576603	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Prader-Willi-like syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:398073	"" []	576604	\N	\N	EFO	2	EFO	Genetic obesity	Prader-Willi-like syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:398073	"" []	576605	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Prader-Willi-like syndrome
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:398073	"" []	576606	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi-like syndrome
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:398073	"" []	1159780	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Prader-Willi-like syndrome
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:398073	"" []	1159781	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi-like syndrome
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:398073	"" []	1159782	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Prader-Willi-like syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:398073	"" []	1159783	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Prader-Willi-like syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:398073	"" []	1159784	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Prader-Willi-like syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:398073	"" []	1159785	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi-like syndrome
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:398073	"" []	1159786	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi-like syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:398073	"" []	2043154	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Prader-Willi-like syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:398073	"" []	2043155	\N	\N	EFO	4	EFO	Rare genetic male infertility	Prader-Willi-like syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:398073	"" []	2043156	\N	\N	EFO	4	EFO	Pituitary deficiency	Prader-Willi-like syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398073	"" []	5416593	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi-like syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:398073	"" []	5416594	\N	\N	EFO	7	EFO	endocrine system disease	Prader-Willi-like syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:398073	"" []	2043159	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi-like syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398073	"" []	3193380	\N	\N	EFO	5	EFO	genetic disorder	Prader-Willi-like syndrome
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:398073	"" []	2043161	\N	\N	EFO	4	EFO	Rare genetic female infertility	Prader-Willi-like syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398073	"" []	3193374	\N	\N	EFO	5	EFO	genetic disorder	Prader-Willi-like syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:398073	"" []	3193375	\N	\N	EFO	5	EFO	reproductive system disease	Prader-Willi-like syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:398073	"" []	3193376	\N	\N	EFO	5	EFO	Genetic infertility	Prader-Willi-like syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:398073	"" []	3193377	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Prader-Willi-like syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398073	"" []	5817756	\N	\N	EFO	8	EFO	disease	Prader-Willi-like syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398073	"" []	5817757	\N	\N	EFO	8	EFO	disease	Prader-Willi-like syndrome
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:398073	"" []	3193381	\N	\N	EFO	5	EFO	Genetic infertility	Prader-Willi-like syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398073	"" []	5416592	\N	\N	EFO	7	EFO	disease	Prader-Willi-like syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398073	"" []	4399695	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi-like syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:398073	"" []	4399696	\N	\N	EFO	6	EFO	reproductive system disease	Prader-Willi-like syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:398073	"" []	4399697	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Prader-Willi-like syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:398073	"" []	6410231	\N	\N	EFO	9	EFO	disposition	Prader-Willi-like syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:398073	"" []	6808068	\N	\N	EFO	10	EFO	material property	Prader-Willi-like syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:398073	"" []	7048759	\N	\N	EFO	11	EFO	experimental factor	Prader-Willi-like syndrome
Orphanet:398079	\N	\N	"" []	Orphanet:398079	"" []	77218	\N	\N	EFO	0	EFO	Prader-Willi-like syndrome due to point mutation	Prader-Willi-like syndrome due to point mutation
Orphanet:398073	Orphanet:398079	\N	"" []	Orphanet:398079	"" []	220815	\N	\N	EFO	1	EFO	Prader-Willi-like syndrome	Prader-Willi-like syndrome due to point mutation
Orphanet:181387	Orphanet:398073	\N	"" []	Orphanet:398079	"" []	576607	\N	\N	EFO	2	EFO	Rare disorder with hypogonadotropic hypogonadism	Prader-Willi-like syndrome due to point mutation
Orphanet:240371	Orphanet:398073	\N	"" []	Orphanet:398079	"" []	576608	\N	\N	EFO	2	EFO	Syndromic obesity	Prader-Willi-like syndrome due to point mutation
Orphanet:330197	Orphanet:398073	\N	"" []	Orphanet:398079	"" []	576609	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Prader-Willi-like syndrome due to point mutation
Orphanet:399846	Orphanet:398073	\N	"" []	Orphanet:398079	"" []	576610	\N	\N	EFO	2	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi-like syndrome due to point mutation
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:398079	"" []	1159787	\N	\N	EFO	3	EFO	Congenital hypogonadotropic hypogonadism	Prader-Willi-like syndrome due to point mutation
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:398079	"" []	1159788	\N	\N	EFO	3	EFO	Genetic obesity	Prader-Willi-like syndrome due to point mutation
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:398079	"" []	1159789	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Prader-Willi-like syndrome due to point mutation
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:398079	"" []	1159790	\N	\N	EFO	3	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi-like syndrome due to point mutation
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:398079	"" []	2043162	\N	\N	EFO	4	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Prader-Willi-like syndrome due to point mutation
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:398079	"" []	2043163	\N	\N	EFO	4	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi-like syndrome due to point mutation
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:398079	"" []	2043164	\N	\N	EFO	4	EFO	Non-acquired pituitary hormone deficiency	Prader-Willi-like syndrome due to point mutation
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:398079	"" []	2043165	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Prader-Willi-like syndrome due to point mutation
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:398079	"" []	2043166	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Prader-Willi-like syndrome due to point mutation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:398079	"" []	2043167	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi-like syndrome due to point mutation
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:398079	"" []	2043168	\N	\N	EFO	4	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi-like syndrome due to point mutation
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:398079	"" []	3193382	\N	\N	EFO	5	EFO	Rare genetic gynecological and obstetrical diseases	Prader-Willi-like syndrome due to point mutation
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:398079	"" []	3193383	\N	\N	EFO	5	EFO	Rare genetic male infertility	Prader-Willi-like syndrome due to point mutation
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:398079	"" []	3193384	\N	\N	EFO	5	EFO	Pituitary deficiency	Prader-Willi-like syndrome due to point mutation
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398079	"" []	6152032	\N	\N	EFO	8	EFO	genetic disorder	Prader-Willi-like syndrome due to point mutation
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:398079	"" []	6152033	\N	\N	EFO	8	EFO	endocrine system disease	Prader-Willi-like syndrome due to point mutation
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:398079	"" []	3193387	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi-like syndrome due to point mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398079	"" []	4399705	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi-like syndrome due to point mutation
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:398079	"" []	3193389	\N	\N	EFO	5	EFO	Rare genetic female infertility	Prader-Willi-like syndrome due to point mutation
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398079	"" []	4399699	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi-like syndrome due to point mutation
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:398079	"" []	4399700	\N	\N	EFO	6	EFO	reproductive system disease	Prader-Willi-like syndrome due to point mutation
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:398079	"" []	4399701	\N	\N	EFO	6	EFO	Genetic infertility	Prader-Willi-like syndrome due to point mutation
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:398079	"" []	4399702	\N	\N	EFO	6	EFO	Rare genetic hypothalamic or pituitary disease	Prader-Willi-like syndrome due to point mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398079	"" []	6410232	\N	\N	EFO	9	EFO	disease	Prader-Willi-like syndrome due to point mutation
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398079	"" []	6410233	\N	\N	EFO	9	EFO	disease	Prader-Willi-like syndrome due to point mutation
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:398079	"" []	4399706	\N	\N	EFO	6	EFO	Genetic infertility	Prader-Willi-like syndrome due to point mutation
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398079	"" []	6152031	\N	\N	EFO	8	EFO	disease	Prader-Willi-like syndrome due to point mutation
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398079	"" []	5416597	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi-like syndrome due to point mutation
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:398079	"" []	5416598	\N	\N	EFO	7	EFO	reproductive system disease	Prader-Willi-like syndrome due to point mutation
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:398079	"" []	5416599	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Prader-Willi-like syndrome due to point mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:398079	"" []	6808069	\N	\N	EFO	10	EFO	disposition	Prader-Willi-like syndrome due to point mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:398079	"" []	7048760	\N	\N	EFO	11	EFO	material property	Prader-Willi-like syndrome due to point mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:398079	"" []	7190250	\N	\N	EFO	12	EFO	experimental factor	Prader-Willi-like syndrome due to point mutation
Orphanet:398088	\N	\N	"" []	Orphanet:398088	"" []	77219	\N	\N	EFO	0	EFO	Hereditary cryohydrocytosis with normal stomatin	Hereditary cryohydrocytosis with normal stomatin
Orphanet:98365	Orphanet:398088	\N	"" []	Orphanet:398088	"" []	220816	\N	\N	EFO	1	EFO	Hereditary stomatocytosis	Hereditary cryohydrocytosis with normal stomatin
Orphanet:98364	Orphanet:98365	\N	"" []	Orphanet:398088	"" []	576611	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Hereditary cryohydrocytosis with normal stomatin
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:398088	"" []	1159791	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Hereditary cryohydrocytosis with normal stomatin
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:398088	"" []	2043169	\N	\N	EFO	4	EFO	Rare constitutional anemia	Hereditary cryohydrocytosis with normal stomatin
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:398088	"" []	3193390	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Hereditary cryohydrocytosis with normal stomatin
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398088	"" []	4399707	\N	\N	EFO	6	EFO	genetic disorder	Hereditary cryohydrocytosis with normal stomatin
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:398088	"" []	4399708	\N	\N	EFO	6	EFO	hematological system disease	Hereditary cryohydrocytosis with normal stomatin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398088	"" []	5416601	\N	\N	EFO	7	EFO	disease	Hereditary cryohydrocytosis with normal stomatin
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398088	"" []	5416602	\N	\N	EFO	7	EFO	disease	Hereditary cryohydrocytosis with normal stomatin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:398088	"" []	6152035	\N	\N	EFO	8	EFO	disposition	Hereditary cryohydrocytosis with normal stomatin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:398088	"" []	6633891	\N	\N	EFO	9	EFO	material property	Hereditary cryohydrocytosis with normal stomatin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:398088	"" []	6926162	\N	\N	EFO	10	EFO	experimental factor	Hereditary cryohydrocytosis with normal stomatin
Orphanet:398156	\N	\N	"" []	Orphanet:398156	"" []	77220	\N	\N	EFO	0	EFO	Oculoauriculofrontonasal syndrome	Oculoauriculofrontonasal syndrome
Orphanet:250	Orphanet:398156	\N	"" []	Orphanet:398156	"" []	220817	\N	\N	EFO	1	EFO	Frontonasal dysplasia	Oculoauriculofrontonasal syndrome
Orphanet:93453	Orphanet:250	\N	"" []	Orphanet:398156	"" []	576612	\N	\N	EFO	2	EFO	Dysostosis with predominant craniofacial involvement	Oculoauriculofrontonasal syndrome
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:398156	"" []	1159792	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Oculoauriculofrontonasal syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:398156	"" []	2043170	\N	\N	EFO	4	EFO	Rare genetic bone disease	Oculoauriculofrontonasal syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:398156	"" []	2043171	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Oculoauriculofrontonasal syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398156	"" []	3193391	\N	\N	EFO	5	EFO	genetic disorder	Oculoauriculofrontonasal syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:398156	"" []	3193392	\N	\N	EFO	5	EFO	bone disease	Oculoauriculofrontonasal syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:398156	"" []	3193393	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Oculoauriculofrontonasal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398156	"" []	5416605	\N	\N	EFO	7	EFO	disease	Oculoauriculofrontonasal syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:398156	"" []	4399710	\N	\N	EFO	6	EFO	skeletal system disease	Oculoauriculofrontonasal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398156	"" []	4399711	\N	\N	EFO	6	EFO	genetic disorder	Oculoauriculofrontonasal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:398156	"" []	5998327	\N	\N	EFO	8	EFO	disposition	Oculoauriculofrontonasal syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398156	"" []	5416604	\N	\N	EFO	7	EFO	disease	Oculoauriculofrontonasal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:398156	"" []	6551535	\N	\N	EFO	9	EFO	material property	Oculoauriculofrontonasal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:398156	"" []	6889469	\N	\N	EFO	10	EFO	experimental factor	Oculoauriculofrontonasal syndrome
Orphanet:398166	\N	\N	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	77221	\N	\N	EFO	0	EFO	Focal facial dermal dysplasia	Focal facial dermal dysplasia
Orphanet:79373	Orphanet:398166	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	220818	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Focal facial dermal dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	576613	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Focal facial dermal dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	576614	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Focal facial dermal dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	1159793	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Focal facial dermal dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	1159794	\N	\N	EFO	3	EFO	Rare genetic skin disease	Focal facial dermal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	2043172	\N	\N	EFO	4	EFO	genetic disorder	Focal facial dermal dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	2043173	\N	\N	EFO	4	EFO	genetic disorder	Focal facial dermal dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	2043174	\N	\N	EFO	4	EFO	skin disease	Focal facial dermal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	3193394	\N	\N	EFO	5	EFO	disease	Focal facial dermal dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	3193395	\N	\N	EFO	5	EFO	disease	Focal facial dermal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	4399712	\N	\N	EFO	6	EFO	disposition	Focal facial dermal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	5416606	\N	\N	EFO	7	EFO	material property	Focal facial dermal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:398166	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	6152037	\N	\N	EFO	8	EFO	experimental factor	Focal facial dermal dysplasia
Orphanet:398173	\N	\N	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	77222	\N	\N	EFO	0	EFO	Focal facial dermal dysplasia type II	Focal facial dermal dysplasia type II
Orphanet:398166	Orphanet:398173	\N	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	220819	\N	\N	EFO	1	EFO	Focal facial dermal dysplasia	Focal facial dermal dysplasia type II
Orphanet:79373	Orphanet:398166	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	576615	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Focal facial dermal dysplasia type II
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	1159795	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Focal facial dermal dysplasia type II
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	1159796	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Focal facial dermal dysplasia type II
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	2043175	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Focal facial dermal dysplasia type II
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	2043176	\N	\N	EFO	4	EFO	Rare genetic skin disease	Focal facial dermal dysplasia type II
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	3193396	\N	\N	EFO	5	EFO	genetic disorder	Focal facial dermal dysplasia type II
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	3193397	\N	\N	EFO	5	EFO	genetic disorder	Focal facial dermal dysplasia type II
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	3193398	\N	\N	EFO	5	EFO	skin disease	Focal facial dermal dysplasia type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	4399713	\N	\N	EFO	6	EFO	disease	Focal facial dermal dysplasia type II
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	4399714	\N	\N	EFO	6	EFO	disease	Focal facial dermal dysplasia type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	5416607	\N	\N	EFO	7	EFO	disposition	Focal facial dermal dysplasia type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	6152038	\N	\N	EFO	8	EFO	material property	Focal facial dermal dysplasia type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:398173	"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." []	6633893	\N	\N	EFO	9	EFO	experimental factor	Focal facial dermal dysplasia type II
Orphanet:398189	\N	\N	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	77223	\N	\N	EFO	0	EFO	Focal facial dermal dysplasia type IV	Focal facial dermal dysplasia type IV
Orphanet:398166	Orphanet:398189	\N	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	220820	\N	\N	EFO	1	EFO	Focal facial dermal dysplasia	Focal facial dermal dysplasia type IV
Orphanet:79373	Orphanet:398166	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	576616	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Focal facial dermal dysplasia type IV
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	1159797	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Focal facial dermal dysplasia type IV
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	1159798	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Focal facial dermal dysplasia type IV
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	2043177	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Focal facial dermal dysplasia type IV
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	2043178	\N	\N	EFO	4	EFO	Rare genetic skin disease	Focal facial dermal dysplasia type IV
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	3193399	\N	\N	EFO	5	EFO	genetic disorder	Focal facial dermal dysplasia type IV
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	3193400	\N	\N	EFO	5	EFO	genetic disorder	Focal facial dermal dysplasia type IV
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	3193401	\N	\N	EFO	5	EFO	skin disease	Focal facial dermal dysplasia type IV
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	4399715	\N	\N	EFO	6	EFO	disease	Focal facial dermal dysplasia type IV
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	4399716	\N	\N	EFO	6	EFO	disease	Focal facial dermal dysplasia type IV
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	5416608	\N	\N	EFO	7	EFO	disposition	Focal facial dermal dysplasia type IV
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	6152039	\N	\N	EFO	8	EFO	material property	Focal facial dermal dysplasia type IV
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:398189	"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." []	6633894	\N	\N	EFO	9	EFO	experimental factor	Focal facial dermal dysplasia type IV
Orphanet:398934	\N	\N	"" []	Orphanet:398934	"" []	77224	\N	\N	EFO	0	EFO	Malignant epithelial tumor of ovary	Malignant epithelial tumor of ovary
EFO:0001075	Orphanet:398934	\N	"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	Orphanet:398934	"" []	220821	\N	\N	EFO	1	EFO	ovarian carcinoma	Malignant epithelial tumor of ovary
EFO:0000313	EFO:0001075	\N	"A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases." []	Orphanet:398934	"" []	576617	\N	\N	EFO	2	EFO	carcinoma	Malignant epithelial tumor of ovary
EFO:0003893	EFO:0001075	\N	"Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." []	Orphanet:398934	"" []	576618	\N	\N	EFO	2	EFO	ovarian neoplasm	Malignant epithelial tumor of ovary
EFO:0000311	EFO:0000313	\N	"A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease." []	Orphanet:398934	"" []	1159799	\N	\N	EFO	3	EFO	cancer	Malignant epithelial tumor of ovary
EFO:0006858	EFO:0000313	\N	"benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas" []	Orphanet:398934	"" []	1159800	\N	\N	EFO	3	EFO	epithelial neoplasm	Malignant epithelial tumor of ovary
EFO:0003863	EFO:0003893	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:398934	"" []	1159801	\N	\N	EFO	3	EFO	urogenital neoplasm	Malignant epithelial tumor of ovary
EFO:0005771	EFO:0003893	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:398934	"" []	1159802	\N	\N	EFO	3	EFO	ovarian disease	Malignant epithelial tumor of ovary
EFO:0000616	EFO:0000311	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:398934	"" []	2043179	\N	\N	EFO	4	EFO	neoplasm	Malignant epithelial tumor of ovary
EFO:0000616	EFO:0006858	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:398934	"" []	2043180	\N	\N	EFO	4	EFO	neoplasm	Malignant epithelial tumor of ovary
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:398934	"" []	2043181	\N	\N	EFO	4	EFO	neoplasm	Malignant epithelial tumor of ovary
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:398934	"" []	2043182	\N	\N	EFO	4	EFO	reproductive system disease	Malignant epithelial tumor of ovary
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398934	"" []	3193402	\N	\N	EFO	5	EFO	disease	Malignant epithelial tumor of ovary
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:398934	"" []	3193403	\N	\N	EFO	5	EFO	disease	Malignant epithelial tumor of ovary
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:398934	"" []	4399717	\N	\N	EFO	6	EFO	disposition	Malignant epithelial tumor of ovary
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:398934	"" []	5416609	\N	\N	EFO	7	EFO	material property	Malignant epithelial tumor of ovary
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:398934	"" []	6152040	\N	\N	EFO	8	EFO	experimental factor	Malignant epithelial tumor of ovary
Orphanet:399	\N	\N	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	77225	\N	\N	EFO	0	EFO	Huntington disease	Huntington disease
Orphanet:276058	Orphanet:399	\N	"" []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	220822	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease with dementia	Huntington disease
Orphanet:306719	Orphanet:399	\N	"" []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	220823	\N	\N	EFO	1	EFO	Neurodegenerative disease with chorea	Huntington disease
Orphanet:98688	Orphanet:399	\N	"" []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	220824	\N	\N	EFO	1	EFO	Oculomotor apraxia or related oculomotor disease	Huntington disease
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	576619	\N	\N	EFO	2	EFO	Genetic dementia	Huntington disease
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	576620	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Huntington disease
EFO:0005772	Orphanet:306719	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	576621	\N	\N	EFO	2	EFO	neurodegenerative disease	Huntington disease
Orphanet:183521	Orphanet:306719	\N	"" []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	576622	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Huntington disease
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	576623	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Huntington disease
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	1159803	\N	\N	EFO	3	EFO	brain disease	Huntington disease
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	1159804	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Huntington disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	1159805	\N	\N	EFO	3	EFO	neurodegenerative disease	Huntington disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	1159806	\N	\N	EFO	3	EFO	brain disease	Huntington disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	1159807	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Huntington disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	2043185	\N	\N	EFO	4	EFO	nervous system disease	Huntington disease
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	1159809	\N	\N	EFO	3	EFO	movement disorder	Huntington disease
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	1159810	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Huntington disease
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	1159811	\N	\N	EFO	3	EFO	Rare genetic eye disease	Huntington disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	2043183	\N	\N	EFO	4	EFO	nervous system disease	Huntington disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	2043184	\N	\N	EFO	4	EFO	genetic disorder	Huntington disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	3000360	\N	\N	EFO	5	EFO	disease	Huntington disease
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	2043187	\N	\N	EFO	4	EFO	nervous system disease	Huntington disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	2043188	\N	\N	EFO	4	EFO	genetic disorder	Huntington disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	2043189	\N	\N	EFO	4	EFO	eye disease	Huntington disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	3193404	\N	\N	EFO	5	EFO	disease	Huntington disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	4134069	\N	\N	EFO	6	EFO	disposition	Huntington disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	3193406	\N	\N	EFO	5	EFO	disease	Huntington disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	5182959	\N	\N	EFO	7	EFO	material property	Huntington disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399	"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." []	5998328	\N	\N	EFO	8	EFO	experimental factor	Huntington disease
Orphanet:399058	\N	\N	"" []	Orphanet:399058	"" []	77226	\N	\N	EFO	0	EFO	Alpha-B crystallin-related late-onset distal myopathy	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:206650	Orphanet:399058	\N	"" []	Orphanet:399058	"" []	220825	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:98910	Orphanet:399058	\N	"" []	Orphanet:399058	"" []	220826	\N	\N	EFO	1	EFO	Alpha-crystallinopathy	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:399058	"" []	576624	\N	\N	EFO	2	EFO	Distal myopathy	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:209044	Orphanet:98910	\N	"" []	Orphanet:399058	"" []	576625	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of alphaB-cristallin	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:593	Orphanet:98910	\N	"" []	Orphanet:399058	"" []	576626	\N	\N	EFO	2	EFO	Myofibrillar myopathy	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:399058	"" []	1159812	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:209038	Orphanet:209044	\N	"" []	Orphanet:399058	"" []	1159813	\N	\N	EFO	3	EFO	Qualitative or quantitative defects of myofibrillar proteins	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:206656	Orphanet:593	\N	"" []	Orphanet:399058	"" []	1159814	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:399058	"" []	3193410	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:399058	"" []	2043191	\N	\N	EFO	4	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:399058	"" []	2043192	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Alpha-B crystallin-related late-onset distal myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:399058	"" []	4134070	\N	\N	EFO	6	EFO	muscular disease	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:399058	"" []	4134071	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:399058	"" []	3193409	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Alpha-B crystallin-related late-onset distal myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:399058	"" []	5182960	\N	\N	EFO	7	EFO	skeletal system disease	Alpha-B crystallin-related late-onset distal myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399058	"" []	5182961	\N	\N	EFO	7	EFO	genetic disorder	Alpha-B crystallin-related late-onset distal myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399058	"" []	5998329	\N	\N	EFO	8	EFO	disease	Alpha-B crystallin-related late-onset distal myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399058	"" []	5998330	\N	\N	EFO	8	EFO	disease	Alpha-B crystallin-related late-onset distal myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399058	"" []	6551536	\N	\N	EFO	9	EFO	disposition	Alpha-B crystallin-related late-onset distal myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399058	"" []	6889470	\N	\N	EFO	10	EFO	material property	Alpha-B crystallin-related late-onset distal myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399058	"" []	7086052	\N	\N	EFO	11	EFO	experimental factor	Alpha-B crystallin-related late-onset distal myopathy
Orphanet:399081	\N	\N	"" []	Orphanet:399081	"" []	77227	\N	\N	EFO	0	EFO	KLHL9-related childhood-onset distal myopathy	KLHL9-related childhood-onset distal myopathy
Orphanet:206650	Orphanet:399081	\N	"" []	Orphanet:399081	"" []	220827	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	KLHL9-related childhood-onset distal myopathy
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:399081	"" []	576627	\N	\N	EFO	2	EFO	Distal myopathy	KLHL9-related childhood-onset distal myopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:399081	"" []	1159815	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	KLHL9-related childhood-onset distal myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:399081	"" []	2043193	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	KLHL9-related childhood-onset distal myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:399081	"" []	3193411	\N	\N	EFO	5	EFO	muscular disease	KLHL9-related childhood-onset distal myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:399081	"" []	3193412	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	KLHL9-related childhood-onset distal myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:399081	"" []	4399721	\N	\N	EFO	6	EFO	skeletal system disease	KLHL9-related childhood-onset distal myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399081	"" []	4399722	\N	\N	EFO	6	EFO	genetic disorder	KLHL9-related childhood-onset distal myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399081	"" []	5416613	\N	\N	EFO	7	EFO	disease	KLHL9-related childhood-onset distal myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399081	"" []	5416614	\N	\N	EFO	7	EFO	disease	KLHL9-related childhood-onset distal myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399081	"" []	6152042	\N	\N	EFO	8	EFO	disposition	KLHL9-related childhood-onset distal myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399081	"" []	6633896	\N	\N	EFO	9	EFO	material property	KLHL9-related childhood-onset distal myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399081	"" []	6926164	\N	\N	EFO	10	EFO	experimental factor	KLHL9-related childhood-onset distal myopathy
Orphanet:399086	\N	\N	"" []	Orphanet:399086	"" []	77228	\N	\N	EFO	0	EFO	Finnish upper limb-onset distal myopathy	Finnish upper limb-onset distal myopathy
Orphanet:206650	Orphanet:399086	\N	"" []	Orphanet:399086	"" []	220828	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Finnish upper limb-onset distal myopathy
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:399086	"" []	576628	\N	\N	EFO	2	EFO	Distal myopathy	Finnish upper limb-onset distal myopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:399086	"" []	1159816	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Finnish upper limb-onset distal myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:399086	"" []	2043194	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Finnish upper limb-onset distal myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:399086	"" []	3193413	\N	\N	EFO	5	EFO	muscular disease	Finnish upper limb-onset distal myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:399086	"" []	3193414	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Finnish upper limb-onset distal myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:399086	"" []	4399723	\N	\N	EFO	6	EFO	skeletal system disease	Finnish upper limb-onset distal myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399086	"" []	4399724	\N	\N	EFO	6	EFO	genetic disorder	Finnish upper limb-onset distal myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399086	"" []	5416615	\N	\N	EFO	7	EFO	disease	Finnish upper limb-onset distal myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399086	"" []	5416616	\N	\N	EFO	7	EFO	disease	Finnish upper limb-onset distal myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399086	"" []	6152043	\N	\N	EFO	8	EFO	disposition	Finnish upper limb-onset distal myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399086	"" []	6633897	\N	\N	EFO	9	EFO	material property	Finnish upper limb-onset distal myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399086	"" []	6926165	\N	\N	EFO	10	EFO	experimental factor	Finnish upper limb-onset distal myopathy
Orphanet:399096	\N	\N	"" []	Orphanet:399096	"" []	77229	\N	\N	EFO	0	EFO	Distal anoctaminopathy	Distal anoctaminopathy
Orphanet:206653	Orphanet:399096	\N	"" []	Orphanet:399096	"" []	220829	\N	\N	EFO	1	EFO	Autosomal recessive distal myopathy	Distal anoctaminopathy
Orphanet:599	Orphanet:206653	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:399096	"" []	576629	\N	\N	EFO	2	EFO	Distal myopathy	Distal anoctaminopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:399096	"" []	1159817	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Distal anoctaminopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:399096	"" []	2043195	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal anoctaminopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:399096	"" []	3193415	\N	\N	EFO	5	EFO	muscular disease	Distal anoctaminopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:399096	"" []	3193416	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal anoctaminopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:399096	"" []	4399725	\N	\N	EFO	6	EFO	skeletal system disease	Distal anoctaminopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399096	"" []	4399726	\N	\N	EFO	6	EFO	genetic disorder	Distal anoctaminopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399096	"" []	5416617	\N	\N	EFO	7	EFO	disease	Distal anoctaminopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399096	"" []	5416618	\N	\N	EFO	7	EFO	disease	Distal anoctaminopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399096	"" []	6152044	\N	\N	EFO	8	EFO	disposition	Distal anoctaminopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399096	"" []	6633898	\N	\N	EFO	9	EFO	material property	Distal anoctaminopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399096	"" []	6926166	\N	\N	EFO	10	EFO	experimental factor	Distal anoctaminopathy
Orphanet:399103	\N	\N	"" []	Orphanet:399103	"" []	77230	\N	\N	EFO	0	EFO	Nebulin-related early-onset distal myopathy	Nebulin-related early-onset distal myopathy
Orphanet:206653	Orphanet:399103	\N	"" []	Orphanet:399103	"" []	220830	\N	\N	EFO	1	EFO	Autosomal recessive distal myopathy	Nebulin-related early-onset distal myopathy
Orphanet:599	Orphanet:206653	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:399103	"" []	576630	\N	\N	EFO	2	EFO	Distal myopathy	Nebulin-related early-onset distal myopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:399103	"" []	1159818	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Nebulin-related early-onset distal myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:399103	"" []	2043196	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Nebulin-related early-onset distal myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:399103	"" []	3193417	\N	\N	EFO	5	EFO	muscular disease	Nebulin-related early-onset distal myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:399103	"" []	3193418	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Nebulin-related early-onset distal myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:399103	"" []	4399727	\N	\N	EFO	6	EFO	skeletal system disease	Nebulin-related early-onset distal myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399103	"" []	4399728	\N	\N	EFO	6	EFO	genetic disorder	Nebulin-related early-onset distal myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399103	"" []	5416619	\N	\N	EFO	7	EFO	disease	Nebulin-related early-onset distal myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399103	"" []	5416620	\N	\N	EFO	7	EFO	disease	Nebulin-related early-onset distal myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399103	"" []	6152045	\N	\N	EFO	8	EFO	disposition	Nebulin-related early-onset distal myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399103	"" []	6633899	\N	\N	EFO	9	EFO	material property	Nebulin-related early-onset distal myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399103	"" []	6926167	\N	\N	EFO	10	EFO	experimental factor	Nebulin-related early-onset distal myopathy
Orphanet:399185	\N	\N	"" []	Orphanet:399185	"" []	77231	\N	\N	EFO	0	EFO	Rare hereditary disease with avascular necrosis	Rare hereditary disease with avascular necrosis
Orphanet:399388	Orphanet:399185	\N	"" []	Orphanet:399185	"" []	220831	\N	\N	EFO	1	EFO	Avascular necrosis of genetic origin	Rare hereditary disease with avascular necrosis
Orphanet:399380	Orphanet:399388	\N	"" []	Orphanet:399185	"" []	576631	\N	\N	EFO	2	EFO	Osteonecrosis of genetic origin	Rare hereditary disease with avascular necrosis
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:399185	"" []	1159819	\N	\N	EFO	3	EFO	Rare genetic bone disease	Rare hereditary disease with avascular necrosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399185	"" []	2043197	\N	\N	EFO	4	EFO	genetic disorder	Rare hereditary disease with avascular necrosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:399185	"" []	2043198	\N	\N	EFO	4	EFO	bone disease	Rare hereditary disease with avascular necrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399185	"" []	3193419	\N	\N	EFO	5	EFO	disease	Rare hereditary disease with avascular necrosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:399185	"" []	3193420	\N	\N	EFO	5	EFO	skeletal system disease	Rare hereditary disease with avascular necrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399185	"" []	5416622	\N	\N	EFO	7	EFO	disposition	Rare hereditary disease with avascular necrosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399185	"" []	4399730	\N	\N	EFO	6	EFO	disease	Rare hereditary disease with avascular necrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399185	"" []	5998331	\N	\N	EFO	8	EFO	material property	Rare hereditary disease with avascular necrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399185	"" []	6551537	\N	\N	EFO	9	EFO	experimental factor	Rare hereditary disease with avascular necrosis
Orphanet:399380	\N	\N	"" []	Orphanet:399380	"" []	77232	\N	\N	EFO	0	EFO	Osteonecrosis of genetic origin	Osteonecrosis of genetic origin
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:399380	"" []	220832	\N	\N	EFO	1	EFO	Rare genetic bone disease	Osteonecrosis of genetic origin
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399380	"" []	576632	\N	\N	EFO	2	EFO	genetic disorder	Osteonecrosis of genetic origin
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:399380	"" []	576633	\N	\N	EFO	2	EFO	bone disease	Osteonecrosis of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399380	"" []	1159820	\N	\N	EFO	3	EFO	disease	Osteonecrosis of genetic origin
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:399380	"" []	1159821	\N	\N	EFO	3	EFO	skeletal system disease	Osteonecrosis of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399380	"" []	3193422	\N	\N	EFO	5	EFO	disposition	Osteonecrosis of genetic origin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399380	"" []	2043200	\N	\N	EFO	4	EFO	disease	Osteonecrosis of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399380	"" []	4134072	\N	\N	EFO	6	EFO	material property	Osteonecrosis of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399380	"" []	5182962	\N	\N	EFO	7	EFO	experimental factor	Osteonecrosis of genetic origin
Orphanet:399388	\N	\N	"" []	Orphanet:399388	"" []	77233	\N	\N	EFO	0	EFO	Avascular necrosis of genetic origin	Avascular necrosis of genetic origin
Orphanet:399380	Orphanet:399388	\N	"" []	Orphanet:399388	"" []	220833	\N	\N	EFO	1	EFO	Osteonecrosis of genetic origin	Avascular necrosis of genetic origin
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:399388	"" []	576634	\N	\N	EFO	2	EFO	Rare genetic bone disease	Avascular necrosis of genetic origin
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399388	"" []	1159822	\N	\N	EFO	3	EFO	genetic disorder	Avascular necrosis of genetic origin
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:399388	"" []	1159823	\N	\N	EFO	3	EFO	bone disease	Avascular necrosis of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399388	"" []	2043201	\N	\N	EFO	4	EFO	disease	Avascular necrosis of genetic origin
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:399388	"" []	2043202	\N	\N	EFO	4	EFO	skeletal system disease	Avascular necrosis of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399388	"" []	4399733	\N	\N	EFO	6	EFO	disposition	Avascular necrosis of genetic origin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399388	"" []	3193424	\N	\N	EFO	5	EFO	disease	Avascular necrosis of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399388	"" []	5182963	\N	\N	EFO	7	EFO	material property	Avascular necrosis of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399388	"" []	5998332	\N	\N	EFO	8	EFO	experimental factor	Avascular necrosis of genetic origin
Orphanet:399391	\N	\N	"" []	Orphanet:399391	"" []	77234	\N	\N	EFO	0	EFO	Osteochondrosis of genetic origin	Osteochondrosis of genetic origin
Orphanet:399380	Orphanet:399391	\N	"" []	Orphanet:399391	"" []	220834	\N	\N	EFO	1	EFO	Osteonecrosis of genetic origin	Osteochondrosis of genetic origin
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:399391	"" []	576635	\N	\N	EFO	2	EFO	Rare genetic bone disease	Osteochondrosis of genetic origin
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399391	"" []	1159824	\N	\N	EFO	3	EFO	genetic disorder	Osteochondrosis of genetic origin
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:399391	"" []	1159825	\N	\N	EFO	3	EFO	bone disease	Osteochondrosis of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399391	"" []	2043203	\N	\N	EFO	4	EFO	disease	Osteochondrosis of genetic origin
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:399391	"" []	2043204	\N	\N	EFO	4	EFO	skeletal system disease	Osteochondrosis of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399391	"" []	4399735	\N	\N	EFO	6	EFO	disposition	Osteochondrosis of genetic origin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399391	"" []	3193426	\N	\N	EFO	5	EFO	disease	Osteochondrosis of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399391	"" []	5182964	\N	\N	EFO	7	EFO	material property	Osteochondrosis of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399391	"" []	5998333	\N	\N	EFO	8	EFO	experimental factor	Osteochondrosis of genetic origin
Orphanet:399685	\N	\N	"" []	Orphanet:399685	"" []	77235	\N	\N	EFO	0	EFO	Rare male infertility due to testicular endocrine disorder	Rare male infertility due to testicular endocrine disorder
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:399685	"" []	220835	\N	\N	EFO	1	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Rare male infertility due to testicular endocrine disorder
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:399685	"" []	576636	\N	\N	EFO	2	EFO	Rare genetic male infertility	Rare male infertility due to testicular endocrine disorder
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:399685	"" []	1159826	\N	\N	EFO	3	EFO	Genetic infertility	Rare male infertility due to testicular endocrine disorder
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399685	"" []	2043205	\N	\N	EFO	4	EFO	genetic disorder	Rare male infertility due to testicular endocrine disorder
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399685	"" []	2043206	\N	\N	EFO	4	EFO	reproductive system disease	Rare male infertility due to testicular endocrine disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399685	"" []	3193427	\N	\N	EFO	5	EFO	disease	Rare male infertility due to testicular endocrine disorder
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399685	"" []	3193428	\N	\N	EFO	5	EFO	disease	Rare male infertility due to testicular endocrine disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399685	"" []	4399736	\N	\N	EFO	6	EFO	disposition	Rare male infertility due to testicular endocrine disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399685	"" []	5416625	\N	\N	EFO	7	EFO	material property	Rare male infertility due to testicular endocrine disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399685	"" []	6152047	\N	\N	EFO	8	EFO	experimental factor	Rare male infertility due to testicular endocrine disorder
Orphanet:399764	\N	\N	"" []	Orphanet:399764	"" []	77236	\N	\N	EFO	0	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Male infertility due to gonadal dysgenesis or sperm disorder
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:399764	"" []	220836	\N	\N	EFO	1	EFO	Rare genetic male infertility	Male infertility due to gonadal dysgenesis or sperm disorder
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:399764	"" []	576637	\N	\N	EFO	2	EFO	Genetic infertility	Male infertility due to gonadal dysgenesis or sperm disorder
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399764	"" []	1159827	\N	\N	EFO	3	EFO	genetic disorder	Male infertility due to gonadal dysgenesis or sperm disorder
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399764	"" []	1159828	\N	\N	EFO	3	EFO	reproductive system disease	Male infertility due to gonadal dysgenesis or sperm disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399764	"" []	2043207	\N	\N	EFO	4	EFO	disease	Male infertility due to gonadal dysgenesis or sperm disorder
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399764	"" []	2043208	\N	\N	EFO	4	EFO	disease	Male infertility due to gonadal dysgenesis or sperm disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399764	"" []	3193429	\N	\N	EFO	5	EFO	disposition	Male infertility due to gonadal dysgenesis or sperm disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399764	"" []	4399737	\N	\N	EFO	6	EFO	material property	Male infertility due to gonadal dysgenesis or sperm disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399764	"" []	5416626	\N	\N	EFO	7	EFO	experimental factor	Male infertility due to gonadal dysgenesis or sperm disorder
Orphanet:399771	\N	\N	"" []	Orphanet:399771	"" []	77237	\N	\N	EFO	0	EFO	Male infertility due to sperm disorder	Male infertility due to sperm disorder
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:399771	"" []	220837	\N	\N	EFO	1	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Male infertility due to sperm disorder
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:399771	"" []	576638	\N	\N	EFO	2	EFO	Rare genetic male infertility	Male infertility due to sperm disorder
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:399771	"" []	1159829	\N	\N	EFO	3	EFO	Genetic infertility	Male infertility due to sperm disorder
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399771	"" []	2043209	\N	\N	EFO	4	EFO	genetic disorder	Male infertility due to sperm disorder
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399771	"" []	2043210	\N	\N	EFO	4	EFO	reproductive system disease	Male infertility due to sperm disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399771	"" []	3193430	\N	\N	EFO	5	EFO	disease	Male infertility due to sperm disorder
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399771	"" []	3193431	\N	\N	EFO	5	EFO	disease	Male infertility due to sperm disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399771	"" []	4399738	\N	\N	EFO	6	EFO	disposition	Male infertility due to sperm disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399771	"" []	5416627	\N	\N	EFO	7	EFO	material property	Male infertility due to sperm disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399771	"" []	6152048	\N	\N	EFO	8	EFO	experimental factor	Male infertility due to sperm disorder
Orphanet:399775	\N	\N	"" []	Orphanet:399775	"" []	77238	\N	\N	EFO	0	EFO	Male infertility with spermatogenesis disorder	Male infertility with spermatogenesis disorder
Orphanet:399771	Orphanet:399775	\N	"" []	Orphanet:399775	"" []	220838	\N	\N	EFO	1	EFO	Male infertility due to sperm disorder	Male infertility with spermatogenesis disorder
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:399775	"" []	576639	\N	\N	EFO	2	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Male infertility with spermatogenesis disorder
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:399775	"" []	1159830	\N	\N	EFO	3	EFO	Rare genetic male infertility	Male infertility with spermatogenesis disorder
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:399775	"" []	2043211	\N	\N	EFO	4	EFO	Genetic infertility	Male infertility with spermatogenesis disorder
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399775	"" []	3193432	\N	\N	EFO	5	EFO	genetic disorder	Male infertility with spermatogenesis disorder
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399775	"" []	3193433	\N	\N	EFO	5	EFO	reproductive system disease	Male infertility with spermatogenesis disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399775	"" []	4399739	\N	\N	EFO	6	EFO	disease	Male infertility with spermatogenesis disorder
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399775	"" []	4399740	\N	\N	EFO	6	EFO	disease	Male infertility with spermatogenesis disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399775	"" []	5416628	\N	\N	EFO	7	EFO	disposition	Male infertility with spermatogenesis disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399775	"" []	6152049	\N	\N	EFO	8	EFO	material property	Male infertility with spermatogenesis disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399775	"" []	6633900	\N	\N	EFO	9	EFO	experimental factor	Male infertility with spermatogenesis disorder
Orphanet:399786	\N	\N	"" []	Orphanet:399786	"" []	77239	\N	\N	EFO	0	EFO	Male infertility with spermatogenesis disorder due to single gene mutation	Male infertility with spermatogenesis disorder due to single gene mutation
Orphanet:399775	Orphanet:399786	\N	"" []	Orphanet:399786	"" []	220839	\N	\N	EFO	1	EFO	Male infertility with spermatogenesis disorder	Male infertility with spermatogenesis disorder due to single gene mutation
Orphanet:399771	Orphanet:399775	\N	"" []	Orphanet:399786	"" []	576640	\N	\N	EFO	2	EFO	Male infertility due to sperm disorder	Male infertility with spermatogenesis disorder due to single gene mutation
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:399786	"" []	1159831	\N	\N	EFO	3	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Male infertility with spermatogenesis disorder due to single gene mutation
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:399786	"" []	2043212	\N	\N	EFO	4	EFO	Rare genetic male infertility	Male infertility with spermatogenesis disorder due to single gene mutation
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:399786	"" []	3193434	\N	\N	EFO	5	EFO	Genetic infertility	Male infertility with spermatogenesis disorder due to single gene mutation
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399786	"" []	4399741	\N	\N	EFO	6	EFO	genetic disorder	Male infertility with spermatogenesis disorder due to single gene mutation
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399786	"" []	4399742	\N	\N	EFO	6	EFO	reproductive system disease	Male infertility with spermatogenesis disorder due to single gene mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399786	"" []	5416629	\N	\N	EFO	7	EFO	disease	Male infertility with spermatogenesis disorder due to single gene mutation
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399786	"" []	5416630	\N	\N	EFO	7	EFO	disease	Male infertility with spermatogenesis disorder due to single gene mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399786	"" []	6152050	\N	\N	EFO	8	EFO	disposition	Male infertility with spermatogenesis disorder due to single gene mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399786	"" []	6633901	\N	\N	EFO	9	EFO	material property	Male infertility with spermatogenesis disorder due to single gene mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399786	"" []	6926168	\N	\N	EFO	10	EFO	experimental factor	Male infertility with spermatogenesis disorder due to single gene mutation
Orphanet:399805	\N	\N	"" []	Orphanet:399805	"" []	77240	\N	\N	EFO	0	EFO	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility with azoospermia or oligozoospermia due to single gene mutation
Orphanet:399786	Orphanet:399805	\N	"" []	Orphanet:399805	"" []	220840	\N	\N	EFO	1	EFO	Male infertility with spermatogenesis disorder due to single gene mutation	Male infertility with azoospermia or oligozoospermia due to single gene mutation
Orphanet:399775	Orphanet:399786	\N	"" []	Orphanet:399805	"" []	576641	\N	\N	EFO	2	EFO	Male infertility with spermatogenesis disorder	Male infertility with azoospermia or oligozoospermia due to single gene mutation
Orphanet:399771	Orphanet:399775	\N	"" []	Orphanet:399805	"" []	1159832	\N	\N	EFO	3	EFO	Male infertility due to sperm disorder	Male infertility with azoospermia or oligozoospermia due to single gene mutation
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:399805	"" []	2043213	\N	\N	EFO	4	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Male infertility with azoospermia or oligozoospermia due to single gene mutation
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:399805	"" []	3193435	\N	\N	EFO	5	EFO	Rare genetic male infertility	Male infertility with azoospermia or oligozoospermia due to single gene mutation
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:399805	"" []	4399743	\N	\N	EFO	6	EFO	Genetic infertility	Male infertility with azoospermia or oligozoospermia due to single gene mutation
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399805	"" []	5416631	\N	\N	EFO	7	EFO	genetic disorder	Male infertility with azoospermia or oligozoospermia due to single gene mutation
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399805	"" []	5416632	\N	\N	EFO	7	EFO	reproductive system disease	Male infertility with azoospermia or oligozoospermia due to single gene mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399805	"" []	6152051	\N	\N	EFO	8	EFO	disease	Male infertility with azoospermia or oligozoospermia due to single gene mutation
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399805	"" []	6152052	\N	\N	EFO	8	EFO	disease	Male infertility with azoospermia or oligozoospermia due to single gene mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399805	"" []	6633902	\N	\N	EFO	9	EFO	disposition	Male infertility with azoospermia or oligozoospermia due to single gene mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399805	"" []	6926169	\N	\N	EFO	10	EFO	material property	Male infertility with azoospermia or oligozoospermia due to single gene mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399805	"" []	7099297	\N	\N	EFO	11	EFO	experimental factor	Male infertility with azoospermia or oligozoospermia due to single gene mutation
Orphanet:399808	\N	\N	"" []	Orphanet:399808	"" []	77241	\N	\N	EFO	0	EFO	Male infertility with teratozoospermia due to single gene mutation	Male infertility with teratozoospermia due to single gene mutation
Orphanet:399786	Orphanet:399808	\N	"" []	Orphanet:399808	"" []	220841	\N	\N	EFO	1	EFO	Male infertility with spermatogenesis disorder due to single gene mutation	Male infertility with teratozoospermia due to single gene mutation
Orphanet:399775	Orphanet:399786	\N	"" []	Orphanet:399808	"" []	576642	\N	\N	EFO	2	EFO	Male infertility with spermatogenesis disorder	Male infertility with teratozoospermia due to single gene mutation
Orphanet:399771	Orphanet:399775	\N	"" []	Orphanet:399808	"" []	1159833	\N	\N	EFO	3	EFO	Male infertility due to sperm disorder	Male infertility with teratozoospermia due to single gene mutation
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:399808	"" []	2043214	\N	\N	EFO	4	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Male infertility with teratozoospermia due to single gene mutation
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:399808	"" []	3193436	\N	\N	EFO	5	EFO	Rare genetic male infertility	Male infertility with teratozoospermia due to single gene mutation
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:399808	"" []	4399744	\N	\N	EFO	6	EFO	Genetic infertility	Male infertility with teratozoospermia due to single gene mutation
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399808	"" []	5416633	\N	\N	EFO	7	EFO	genetic disorder	Male infertility with teratozoospermia due to single gene mutation
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399808	"" []	5416634	\N	\N	EFO	7	EFO	reproductive system disease	Male infertility with teratozoospermia due to single gene mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399808	"" []	6152053	\N	\N	EFO	8	EFO	disease	Male infertility with teratozoospermia due to single gene mutation
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399808	"" []	6152054	\N	\N	EFO	8	EFO	disease	Male infertility with teratozoospermia due to single gene mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399808	"" []	6633903	\N	\N	EFO	9	EFO	disposition	Male infertility with teratozoospermia due to single gene mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399808	"" []	6926170	\N	\N	EFO	10	EFO	material property	Male infertility with teratozoospermia due to single gene mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399808	"" []	7099298	\N	\N	EFO	11	EFO	experimental factor	Male infertility with teratozoospermia due to single gene mutation
Orphanet:399813	\N	\N	"" []	Orphanet:399813	"" []	77242	\N	\N	EFO	0	EFO	Male infertility due to sperm motility disorder	Male infertility due to sperm motility disorder
Orphanet:399771	Orphanet:399813	\N	"" []	Orphanet:399813	"" []	220842	\N	\N	EFO	1	EFO	Male infertility due to sperm disorder	Male infertility due to sperm motility disorder
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:399813	"" []	576643	\N	\N	EFO	2	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Male infertility due to sperm motility disorder
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:399813	"" []	1159834	\N	\N	EFO	3	EFO	Rare genetic male infertility	Male infertility due to sperm motility disorder
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:399813	"" []	2043215	\N	\N	EFO	4	EFO	Genetic infertility	Male infertility due to sperm motility disorder
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399813	"" []	3193437	\N	\N	EFO	5	EFO	genetic disorder	Male infertility due to sperm motility disorder
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399813	"" []	3193438	\N	\N	EFO	5	EFO	reproductive system disease	Male infertility due to sperm motility disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399813	"" []	4399745	\N	\N	EFO	6	EFO	disease	Male infertility due to sperm motility disorder
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399813	"" []	4399746	\N	\N	EFO	6	EFO	disease	Male infertility due to sperm motility disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399813	"" []	5416635	\N	\N	EFO	7	EFO	disposition	Male infertility due to sperm motility disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399813	"" []	6152055	\N	\N	EFO	8	EFO	material property	Male infertility due to sperm motility disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399813	"" []	6633904	\N	\N	EFO	9	EFO	experimental factor	Male infertility due to sperm motility disorder
Orphanet:399839	\N	\N	"" []	Orphanet:399839	"" []	77243	\N	\N	EFO	0	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Rare female infertility due to a congenital hypogonadotropic hypogonadism
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:399839	"" []	220843	\N	\N	EFO	1	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Rare female infertility due to a congenital hypogonadotropic hypogonadism
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:399839	"" []	576644	\N	\N	EFO	2	EFO	Rare genetic female infertility	Rare female infertility due to a congenital hypogonadotropic hypogonadism
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:399839	"" []	1159835	\N	\N	EFO	3	EFO	Genetic infertility	Rare female infertility due to a congenital hypogonadotropic hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399839	"" []	2043216	\N	\N	EFO	4	EFO	genetic disorder	Rare female infertility due to a congenital hypogonadotropic hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399839	"" []	2043217	\N	\N	EFO	4	EFO	reproductive system disease	Rare female infertility due to a congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399839	"" []	3193439	\N	\N	EFO	5	EFO	disease	Rare female infertility due to a congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399839	"" []	3193440	\N	\N	EFO	5	EFO	disease	Rare female infertility due to a congenital hypogonadotropic hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399839	"" []	4399747	\N	\N	EFO	6	EFO	disposition	Rare female infertility due to a congenital hypogonadotropic hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399839	"" []	5416636	\N	\N	EFO	7	EFO	material property	Rare female infertility due to a congenital hypogonadotropic hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399839	"" []	6152056	\N	\N	EFO	8	EFO	experimental factor	Rare female infertility due to a congenital hypogonadotropic hypogonadism
Orphanet:399846	\N	\N	"" []	Orphanet:399846	"" []	77244	\N	\N	EFO	0	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:399846	"" []	220844	\N	\N	EFO	1	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:399846	"" []	576645	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:399846	"" []	1159836	\N	\N	EFO	3	EFO	Rare genetic female infertility	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:399846	"" []	2043218	\N	\N	EFO	4	EFO	Genetic infertility	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399846	"" []	3193441	\N	\N	EFO	5	EFO	genetic disorder	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399846	"" []	3193442	\N	\N	EFO	5	EFO	reproductive system disease	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399846	"" []	4399748	\N	\N	EFO	6	EFO	disease	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399846	"" []	4399749	\N	\N	EFO	6	EFO	disease	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399846	"" []	5416637	\N	\N	EFO	7	EFO	disposition	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399846	"" []	6152057	\N	\N	EFO	8	EFO	material property	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399846	"" []	6633905	\N	\N	EFO	9	EFO	experimental factor	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
Orphanet:399877	\N	\N	"" []	Orphanet:399877	"" []	77245	\N	\N	EFO	0	EFO	Female infertility due to gonadal dysgenesis	Female infertility due to gonadal dysgenesis
Orphanet:400008	Orphanet:399877	\N	"" []	Orphanet:399877	"" []	220845	\N	\N	EFO	1	EFO	Rare genetic female infertility	Female infertility due to gonadal dysgenesis
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:399877	"" []	576646	\N	\N	EFO	2	EFO	Genetic infertility	Female infertility due to gonadal dysgenesis
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399877	"" []	1159837	\N	\N	EFO	3	EFO	genetic disorder	Female infertility due to gonadal dysgenesis
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399877	"" []	1159838	\N	\N	EFO	3	EFO	reproductive system disease	Female infertility due to gonadal dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399877	"" []	2043219	\N	\N	EFO	4	EFO	disease	Female infertility due to gonadal dysgenesis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399877	"" []	2043220	\N	\N	EFO	4	EFO	disease	Female infertility due to gonadal dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399877	"" []	3193443	\N	\N	EFO	5	EFO	disposition	Female infertility due to gonadal dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399877	"" []	4399750	\N	\N	EFO	6	EFO	material property	Female infertility due to gonadal dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399877	"" []	5416638	\N	\N	EFO	7	EFO	experimental factor	Female infertility due to gonadal dysgenesis
Orphanet:399980	\N	\N	"" []	Orphanet:399980	"" []	77246	\N	\N	EFO	0	EFO	Rare genetic male infertility	Rare genetic male infertility
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:399980	"" []	220846	\N	\N	EFO	1	EFO	Genetic infertility	Rare genetic male infertility
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399980	"" []	576647	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic male infertility
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399980	"" []	576648	\N	\N	EFO	2	EFO	reproductive system disease	Rare genetic male infertility
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399980	"" []	1159839	\N	\N	EFO	3	EFO	disease	Rare genetic male infertility
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399980	"" []	1159840	\N	\N	EFO	3	EFO	disease	Rare genetic male infertility
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399980	"" []	2043221	\N	\N	EFO	4	EFO	disposition	Rare genetic male infertility
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399980	"" []	3193444	\N	\N	EFO	5	EFO	material property	Rare genetic male infertility
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399980	"" []	4399751	\N	\N	EFO	6	EFO	experimental factor	Rare genetic male infertility
Orphanet:399983	\N	\N	"" []	Orphanet:399983	"" []	77247	\N	\N	EFO	0	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:399983	"" []	220847	\N	\N	EFO	1	EFO	Rare genetic male infertility	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:399983	"" []	576649	\N	\N	EFO	2	EFO	Genetic infertility	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399983	"" []	1159841	\N	\N	EFO	3	EFO	genetic disorder	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399983	"" []	1159842	\N	\N	EFO	3	EFO	reproductive system disease	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399983	"" []	2043222	\N	\N	EFO	4	EFO	disease	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399983	"" []	2043223	\N	\N	EFO	4	EFO	disease	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399983	"" []	3193445	\N	\N	EFO	5	EFO	disposition	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399983	"" []	4399752	\N	\N	EFO	6	EFO	material property	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399983	"" []	5416639	\N	\N	EFO	7	EFO	experimental factor	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Orphanet:399994	\N	\N	"" []	Orphanet:399994	"" []	77248	\N	\N	EFO	0	EFO	Rare male infertility due to adrenal disorder of genetic origin	Rare male infertility due to adrenal disorder of genetic origin
Orphanet:399983	Orphanet:399994	\N	"" []	Orphanet:399994	"" []	220848	\N	\N	EFO	1	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Rare male infertility due to adrenal disorder of genetic origin
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:399994	"" []	576650	\N	\N	EFO	2	EFO	Rare genetic male infertility	Rare male infertility due to adrenal disorder of genetic origin
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:399994	"" []	1159843	\N	\N	EFO	3	EFO	Genetic infertility	Rare male infertility due to adrenal disorder of genetic origin
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399994	"" []	2043224	\N	\N	EFO	4	EFO	genetic disorder	Rare male infertility due to adrenal disorder of genetic origin
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399994	"" []	2043225	\N	\N	EFO	4	EFO	reproductive system disease	Rare male infertility due to adrenal disorder of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399994	"" []	3193446	\N	\N	EFO	5	EFO	disease	Rare male infertility due to adrenal disorder of genetic origin
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399994	"" []	3193447	\N	\N	EFO	5	EFO	disease	Rare male infertility due to adrenal disorder of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399994	"" []	4399753	\N	\N	EFO	6	EFO	disposition	Rare male infertility due to adrenal disorder of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399994	"" []	5416640	\N	\N	EFO	7	EFO	material property	Rare male infertility due to adrenal disorder of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399994	"" []	6152058	\N	\N	EFO	8	EFO	experimental factor	Rare male infertility due to adrenal disorder of genetic origin
Orphanet:399998	\N	\N	"" []	Orphanet:399998	"" []	77249	\N	\N	EFO	0	EFO	Male infertility due to obstructive azoospermia of genetic origin	Male infertility due to obstructive azoospermia of genetic origin
Orphanet:399980	Orphanet:399998	\N	"" []	Orphanet:399998	"" []	220849	\N	\N	EFO	1	EFO	Rare genetic male infertility	Male infertility due to obstructive azoospermia of genetic origin
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:399998	"" []	576651	\N	\N	EFO	2	EFO	Genetic infertility	Male infertility due to obstructive azoospermia of genetic origin
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:399998	"" []	1159844	\N	\N	EFO	3	EFO	genetic disorder	Male infertility due to obstructive azoospermia of genetic origin
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:399998	"" []	1159845	\N	\N	EFO	3	EFO	reproductive system disease	Male infertility due to obstructive azoospermia of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399998	"" []	2043226	\N	\N	EFO	4	EFO	disease	Male infertility due to obstructive azoospermia of genetic origin
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:399998	"" []	2043227	\N	\N	EFO	4	EFO	disease	Male infertility due to obstructive azoospermia of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:399998	"" []	3193448	\N	\N	EFO	5	EFO	disposition	Male infertility due to obstructive azoospermia of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:399998	"" []	4399754	\N	\N	EFO	6	EFO	material property	Male infertility due to obstructive azoospermia of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:399998	"" []	5416641	\N	\N	EFO	7	EFO	experimental factor	Male infertility due to obstructive azoospermia of genetic origin
Orphanet:40	\N	\N	"" []	Orphanet:40	"" []	77250	\N	\N	EFO	0	EFO	Acromesomelic dysplasia, Maroteaux type	Acromesomelic dysplasia, Maroteaux type
Orphanet:93437	Orphanet:40	\N	"" []	Orphanet:40	"" []	220850	\N	\N	EFO	1	EFO	Acromesomelic dysplasia	Acromesomelic dysplasia, Maroteaux type
Orphanet:364526	Orphanet:93437	\N	"" []	Orphanet:40	"" []	576652	\N	\N	EFO	2	EFO	Primary bone dysplasia	Acromesomelic dysplasia, Maroteaux type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:40	"" []	1159846	\N	\N	EFO	3	EFO	Rare genetic bone disease	Acromesomelic dysplasia, Maroteaux type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:40	"" []	1159847	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Acromesomelic dysplasia, Maroteaux type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:40	"" []	2043228	\N	\N	EFO	4	EFO	genetic disorder	Acromesomelic dysplasia, Maroteaux type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:40	"" []	2043229	\N	\N	EFO	4	EFO	bone disease	Acromesomelic dysplasia, Maroteaux type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:40	"" []	2043230	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acromesomelic dysplasia, Maroteaux type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:40	"" []	4399757	\N	\N	EFO	6	EFO	disease	Acromesomelic dysplasia, Maroteaux type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:40	"" []	3193450	\N	\N	EFO	5	EFO	skeletal system disease	Acromesomelic dysplasia, Maroteaux type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:40	"" []	3193451	\N	\N	EFO	5	EFO	genetic disorder	Acromesomelic dysplasia, Maroteaux type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:40	"" []	5182965	\N	\N	EFO	7	EFO	disposition	Acromesomelic dysplasia, Maroteaux type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:40	"" []	4399756	\N	\N	EFO	6	EFO	disease	Acromesomelic dysplasia, Maroteaux type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:40	"" []	5998334	\N	\N	EFO	8	EFO	material property	Acromesomelic dysplasia, Maroteaux type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:40	"" []	6551538	\N	\N	EFO	9	EFO	experimental factor	Acromesomelic dysplasia, Maroteaux type
Orphanet:400003	\N	\N	"" []	Orphanet:400003	"" []	77251	\N	\N	EFO	0	EFO	Rare genetic disorder with obstructive azoospermia	Rare genetic disorder with obstructive azoospermia
Orphanet:399998	Orphanet:400003	\N	"" []	Orphanet:400003	"" []	220851	\N	\N	EFO	1	EFO	Male infertility due to obstructive azoospermia of genetic origin	Rare genetic disorder with obstructive azoospermia
Orphanet:399980	Orphanet:399998	\N	"" []	Orphanet:400003	"" []	576653	\N	\N	EFO	2	EFO	Rare genetic male infertility	Rare genetic disorder with obstructive azoospermia
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:400003	"" []	1159848	\N	\N	EFO	3	EFO	Genetic infertility	Rare genetic disorder with obstructive azoospermia
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:400003	"" []	2043231	\N	\N	EFO	4	EFO	genetic disorder	Rare genetic disorder with obstructive azoospermia
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:400003	"" []	2043232	\N	\N	EFO	4	EFO	reproductive system disease	Rare genetic disorder with obstructive azoospermia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:400003	"" []	3193452	\N	\N	EFO	5	EFO	disease	Rare genetic disorder with obstructive azoospermia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:400003	"" []	3193453	\N	\N	EFO	5	EFO	disease	Rare genetic disorder with obstructive azoospermia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:400003	"" []	4399758	\N	\N	EFO	6	EFO	disposition	Rare genetic disorder with obstructive azoospermia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:400003	"" []	5416643	\N	\N	EFO	7	EFO	material property	Rare genetic disorder with obstructive azoospermia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:400003	"" []	6152060	\N	\N	EFO	8	EFO	experimental factor	Rare genetic disorder with obstructive azoospermia
Orphanet:400008	\N	\N	"" []	Orphanet:400008	"" []	77252	\N	\N	EFO	0	EFO	Rare genetic female infertility	Rare genetic female infertility
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:400008	"" []	220852	\N	\N	EFO	1	EFO	Genetic infertility	Rare genetic female infertility
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:400008	"" []	576654	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic female infertility
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:400008	"" []	576655	\N	\N	EFO	2	EFO	reproductive system disease	Rare genetic female infertility
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:400008	"" []	1159849	\N	\N	EFO	3	EFO	disease	Rare genetic female infertility
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:400008	"" []	1159850	\N	\N	EFO	3	EFO	disease	Rare genetic female infertility
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:400008	"" []	2043233	\N	\N	EFO	4	EFO	disposition	Rare genetic female infertility
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:400008	"" []	3193454	\N	\N	EFO	5	EFO	material property	Rare genetic female infertility
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:400008	"" []	4399759	\N	\N	EFO	6	EFO	experimental factor	Rare genetic female infertility
Orphanet:400011	\N	\N	"" []	Orphanet:400011	"" []	77253	\N	\N	EFO	0	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:400011	"" []	220853	\N	\N	EFO	1	EFO	Rare genetic female infertility	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:400011	"" []	576656	\N	\N	EFO	2	EFO	Genetic infertility	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:400011	"" []	1159851	\N	\N	EFO	3	EFO	genetic disorder	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:400011	"" []	1159852	\N	\N	EFO	3	EFO	reproductive system disease	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:400011	"" []	2043234	\N	\N	EFO	4	EFO	disease	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:400011	"" []	2043235	\N	\N	EFO	4	EFO	disease	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:400011	"" []	3193455	\N	\N	EFO	5	EFO	disposition	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:400011	"" []	4399760	\N	\N	EFO	6	EFO	material property	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:400011	"" []	5416644	\N	\N	EFO	7	EFO	experimental factor	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Orphanet:400018	\N	\N	"" []	Orphanet:400018	"" []	77254	\N	\N	EFO	0	EFO	Rare female infertility due to adrenal disorder of genetic origin	Rare female infertility due to adrenal disorder of genetic origin
Orphanet:400011	Orphanet:400018	\N	"" []	Orphanet:400018	"" []	220854	\N	\N	EFO	1	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Rare female infertility due to adrenal disorder of genetic origin
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:400018	"" []	576657	\N	\N	EFO	2	EFO	Rare genetic female infertility	Rare female infertility due to adrenal disorder of genetic origin
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:400018	"" []	1159853	\N	\N	EFO	3	EFO	Genetic infertility	Rare female infertility due to adrenal disorder of genetic origin
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:400018	"" []	2043236	\N	\N	EFO	4	EFO	genetic disorder	Rare female infertility due to adrenal disorder of genetic origin
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:400018	"" []	2043237	\N	\N	EFO	4	EFO	reproductive system disease	Rare female infertility due to adrenal disorder of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:400018	"" []	3193456	\N	\N	EFO	5	EFO	disease	Rare female infertility due to adrenal disorder of genetic origin
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:400018	"" []	3193457	\N	\N	EFO	5	EFO	disease	Rare female infertility due to adrenal disorder of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:400018	"" []	4399761	\N	\N	EFO	6	EFO	disposition	Rare female infertility due to adrenal disorder of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:400018	"" []	5416645	\N	\N	EFO	7	EFO	material property	Rare female infertility due to adrenal disorder of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:400018	"" []	6152061	\N	\N	EFO	8	EFO	experimental factor	Rare female infertility due to adrenal disorder of genetic origin
Orphanet:400022	\N	\N	"" []	Orphanet:400022	"" []	77255	\N	\N	EFO	0	EFO	Rare female infertility due to an anomaly of ovarian function of genetic origin	Rare female infertility due to an anomaly of ovarian function of genetic origin
EFO:0005771	Orphanet:400022	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:400022	"" []	220855	\N	\N	EFO	1	EFO	ovarian disease	Rare female infertility due to an anomaly of ovarian function of genetic origin
Orphanet:400011	Orphanet:400022	\N	"" []	Orphanet:400022	"" []	220856	\N	\N	EFO	1	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Rare female infertility due to an anomaly of ovarian function of genetic origin
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:400022	"" []	576658	\N	\N	EFO	2	EFO	reproductive system disease	Rare female infertility due to an anomaly of ovarian function of genetic origin
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:400022	"" []	576659	\N	\N	EFO	2	EFO	Rare genetic female infertility	Rare female infertility due to an anomaly of ovarian function of genetic origin
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:400022	"" []	3193460	\N	\N	EFO	5	EFO	disease	Rare female infertility due to an anomaly of ovarian function of genetic origin
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:400022	"" []	1159855	\N	\N	EFO	3	EFO	Genetic infertility	Rare female infertility due to an anomaly of ovarian function of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:400022	"" []	4066951	\N	\N	EFO	6	EFO	disposition	Rare female infertility due to an anomaly of ovarian function of genetic origin
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:400022	"" []	2043239	\N	\N	EFO	4	EFO	genetic disorder	Rare female infertility due to an anomaly of ovarian function of genetic origin
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:400022	"" []	2043240	\N	\N	EFO	4	EFO	reproductive system disease	Rare female infertility due to an anomaly of ovarian function of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:400022	"" []	5060098	\N	\N	EFO	7	EFO	material property	Rare female infertility due to an anomaly of ovarian function of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:400022	"" []	3193459	\N	\N	EFO	5	EFO	disease	Rare female infertility due to an anomaly of ovarian function of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:400022	"" []	5877510	\N	\N	EFO	8	EFO	experimental factor	Rare female infertility due to an anomaly of ovarian function of genetic origin
Orphanet:400025	\N	\N	"" []	Orphanet:400025	"" []	77256	\N	\N	EFO	0	EFO	Female infertility due to an implantation defect of genetic origin	Female infertility due to an implantation defect of genetic origin
Orphanet:400008	Orphanet:400025	\N	"" []	Orphanet:400025	"" []	220857	\N	\N	EFO	1	EFO	Rare genetic female infertility	Female infertility due to an implantation defect of genetic origin
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:400025	"" []	576660	\N	\N	EFO	2	EFO	Genetic infertility	Female infertility due to an implantation defect of genetic origin
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:400025	"" []	1159856	\N	\N	EFO	3	EFO	genetic disorder	Female infertility due to an implantation defect of genetic origin
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:400025	"" []	1159857	\N	\N	EFO	3	EFO	reproductive system disease	Female infertility due to an implantation defect of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:400025	"" []	2043241	\N	\N	EFO	4	EFO	disease	Female infertility due to an implantation defect of genetic origin
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:400025	"" []	2043242	\N	\N	EFO	4	EFO	disease	Female infertility due to an implantation defect of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:400025	"" []	3193461	\N	\N	EFO	5	EFO	disposition	Female infertility due to an implantation defect of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:400025	"" []	4399763	\N	\N	EFO	6	EFO	material property	Female infertility due to an implantation defect of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:400025	"" []	5416646	\N	\N	EFO	7	EFO	experimental factor	Female infertility due to an implantation defect of genetic origin
Orphanet:401764	\N	\N	"" []	Orphanet:401764	"" []	77257	\N	\N	EFO	0	EFO	Pancytopenia-developmental delay syndrome	Pancytopenia-developmental delay syndrome
Orphanet:68383	Orphanet:401764	\N	"" []	Orphanet:401764	"" []	220858	\N	\N	EFO	1	EFO	Rare constitutional medullar aplasia	Pancytopenia-developmental delay syndrome
Orphanet:182040	Orphanet:68383	\N	"" []	Orphanet:401764	"" []	576661	\N	\N	EFO	2	EFO	Medullar aplasia	Pancytopenia-developmental delay syndrome
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:401764	"" []	1159858	\N	\N	EFO	3	EFO	Rare constitutional anemia	Pancytopenia-developmental delay syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:401764	"" []	2043243	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Pancytopenia-developmental delay syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401764	"" []	3193462	\N	\N	EFO	5	EFO	genetic disorder	Pancytopenia-developmental delay syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:401764	"" []	3193463	\N	\N	EFO	5	EFO	hematological system disease	Pancytopenia-developmental delay syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401764	"" []	4399764	\N	\N	EFO	6	EFO	disease	Pancytopenia-developmental delay syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401764	"" []	4399765	\N	\N	EFO	6	EFO	disease	Pancytopenia-developmental delay syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401764	"" []	5416647	\N	\N	EFO	7	EFO	disposition	Pancytopenia-developmental delay syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401764	"" []	6152062	\N	\N	EFO	8	EFO	material property	Pancytopenia-developmental delay syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401764	"" []	6633906	\N	\N	EFO	9	EFO	experimental factor	Pancytopenia-developmental delay syndrome
Orphanet:401768	\N	\N	"" []	Orphanet:401768	"" []	77258	\N	\N	EFO	0	EFO	Proximal myopathy with extrapyramidal signs	Proximal myopathy with extrapyramidal signs
Orphanet:206656	Orphanet:401768	\N	"" []	Orphanet:401768	"" []	220859	\N	\N	EFO	1	EFO	Non-dystrophic myopathy	Proximal myopathy with extrapyramidal signs
Orphanet:307058	Orphanet:401768	\N	"" []	Orphanet:401768	"" []	220860	\N	\N	EFO	1	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Proximal myopathy with extrapyramidal signs
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:401768	"" []	576662	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Proximal myopathy with extrapyramidal signs
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401768	"" []	576663	\N	\N	EFO	2	EFO	neurodegenerative disease	Proximal myopathy with extrapyramidal signs
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:401768	"" []	576664	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Proximal myopathy with extrapyramidal signs
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:401768	"" []	1159859	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Proximal myopathy with extrapyramidal signs
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401768	"" []	1159860	\N	\N	EFO	3	EFO	nervous system disease	Proximal myopathy with extrapyramidal signs
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:401768	"" []	1159861	\N	\N	EFO	3	EFO	movement disorder	Proximal myopathy with extrapyramidal signs
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:401768	"" []	1159862	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Proximal myopathy with extrapyramidal signs
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:401768	"" []	2043244	\N	\N	EFO	4	EFO	muscular disease	Proximal myopathy with extrapyramidal signs
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:401768	"" []	2043245	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Proximal myopathy with extrapyramidal signs
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401768	"" []	3193467	\N	\N	EFO	5	EFO	disease	Proximal myopathy with extrapyramidal signs
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401768	"" []	2043247	\N	\N	EFO	4	EFO	nervous system disease	Proximal myopathy with extrapyramidal signs
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401768	"" []	3193465	\N	\N	EFO	5	EFO	genetic disorder	Proximal myopathy with extrapyramidal signs
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:401768	"" []	3193464	\N	\N	EFO	5	EFO	skeletal system disease	Proximal myopathy with extrapyramidal signs
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401768	"" []	5182967	\N	\N	EFO	7	EFO	disposition	Proximal myopathy with extrapyramidal signs
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401768	"" []	4134074	\N	\N	EFO	6	EFO	disease	Proximal myopathy with extrapyramidal signs
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401768	"" []	4399766	\N	\N	EFO	6	EFO	disease	Proximal myopathy with extrapyramidal signs
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401768	"" []	5877511	\N	\N	EFO	8	EFO	material property	Proximal myopathy with extrapyramidal signs
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401768	"" []	6470752	\N	\N	EFO	9	EFO	experimental factor	Proximal myopathy with extrapyramidal signs
Orphanet:401777	\N	\N	"" []	Orphanet:401777	"" []	77259	\N	\N	EFO	0	EFO	Optic atrophy-intellectual disability syndrome	Optic atrophy-intellectual disability syndrome
Orphanet:103	Orphanet:401777	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:401777	"" []	220861	\N	\N	EFO	1	EFO	Genetic optic atrophy	Optic atrophy-intellectual disability syndrome
Orphanet:183763	Orphanet:401777	\N	"" []	Orphanet:401777	"" []	220862	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Optic atrophy-intellectual disability syndrome
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:401777	"" []	576665	\N	\N	EFO	2	EFO	Optic neuropathy	Optic atrophy-intellectual disability syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:401777	"" []	576666	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Optic atrophy-intellectual disability syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:401777	"" []	1159863	\N	\N	EFO	3	EFO	Rare genetic eye disease	Optic atrophy-intellectual disability syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:401777	"" []	1159864	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Optic atrophy-intellectual disability syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401777	"" []	2043249	\N	\N	EFO	4	EFO	genetic disorder	Optic atrophy-intellectual disability syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:401777	"" []	2043250	\N	\N	EFO	4	EFO	eye disease	Optic atrophy-intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401777	"" []	2043251	\N	\N	EFO	4	EFO	genetic disorder	Optic atrophy-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401777	"" []	3193469	\N	\N	EFO	5	EFO	disease	Optic atrophy-intellectual disability syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401777	"" []	3193470	\N	\N	EFO	5	EFO	disease	Optic atrophy-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401777	"" []	4399768	\N	\N	EFO	6	EFO	disposition	Optic atrophy-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401777	"" []	5416649	\N	\N	EFO	7	EFO	material property	Optic atrophy-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401777	"" []	6152063	\N	\N	EFO	8	EFO	experimental factor	Optic atrophy-intellectual disability syndrome
Orphanet:401780	\N	\N	"" []	Orphanet:401780	"" []	77260	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 61	Autosomal recessive spastic paraplegia type 61
Orphanet:100981	Orphanet:401780	\N	"" []	Orphanet:401780	"" []	220863	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 61
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:401780	"" []	576667	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 61
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:401780	"" []	1159865	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 61
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401780	"" []	2043252	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 61
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401780	"" []	3193471	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 61
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401780	"" []	3193472	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 61
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401780	"" []	3193473	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 61
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401780	"" []	4399769	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 61
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401780	"" []	4399770	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 61
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401780	"" []	4399771	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 61
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401780	"" []	5416650	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 61
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401780	"" []	5416651	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 61
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401780	"" []	6152064	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 61
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401780	"" []	6633907	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 61
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401780	"" []	6926171	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 61
Orphanet:401785	\N	\N	"" []	Orphanet:401785	"" []	77261	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 62	Autosomal recessive spastic paraplegia type 62
Orphanet:100982	Orphanet:401785	\N	"" []	Orphanet:401785	"" []	220864	\N	\N	EFO	1	EFO	Autosomal recessive pure spastic paraplegia	Autosomal recessive spastic paraplegia type 62
Orphanet:102012	Orphanet:100982	\N	"" []	Orphanet:401785	"" []	576668	\N	\N	EFO	2	EFO	Pure hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 62
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:401785	"" []	1159866	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 62
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401785	"" []	2043253	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 62
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401785	"" []	3193474	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 62
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401785	"" []	3193475	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 62
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401785	"" []	3193476	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 62
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401785	"" []	4399772	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 62
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401785	"" []	4399773	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 62
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401785	"" []	4399774	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 62
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401785	"" []	5416652	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 62
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401785	"" []	5416653	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 62
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401785	"" []	6152065	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 62
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401785	"" []	6633908	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 62
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401785	"" []	6926172	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 62
Orphanet:401795	\N	\N	"" []	Orphanet:401795	"" []	77262	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 59	Autosomal recessive spastic paraplegia type 59
Orphanet:100981	Orphanet:401795	\N	"" []	Orphanet:401795	"" []	220865	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 59
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:401795	"" []	576669	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 59
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:401795	"" []	1159867	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 59
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401795	"" []	2043254	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 59
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401795	"" []	3193477	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 59
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401795	"" []	3193478	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 59
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401795	"" []	3193479	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 59
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401795	"" []	4399775	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 59
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401795	"" []	4399776	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 59
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401795	"" []	4399777	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 59
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401795	"" []	5416654	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 59
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401795	"" []	5416655	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 59
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401795	"" []	6152066	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 59
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401795	"" []	6633909	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 59
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401795	"" []	6926173	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 59
Orphanet:401800	\N	\N	"" []	Orphanet:401800	"" []	77263	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 60	Autosomal recessive spastic paraplegia type 60
Orphanet:100981	Orphanet:401800	\N	"" []	Orphanet:401800	"" []	220866	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 60
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:401800	"" []	576670	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 60
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:401800	"" []	1159868	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 60
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401800	"" []	2043255	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 60
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401800	"" []	3193480	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 60
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401800	"" []	3193481	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 60
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401800	"" []	3193482	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 60
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401800	"" []	4399778	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 60
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401800	"" []	4399779	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 60
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401800	"" []	4399780	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 60
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401800	"" []	5416656	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 60
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401800	"" []	5416657	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 60
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401800	"" []	6152067	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 60
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401800	"" []	6633910	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 60
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401800	"" []	6926174	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 60
Orphanet:401805	\N	\N	"" []	Orphanet:401805	"" []	77264	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 63	Autosomal recessive spastic paraplegia type 63
Orphanet:100981	Orphanet:401805	\N	"" []	Orphanet:401805	"" []	220867	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 63
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:401805	"" []	576671	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 63
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:401805	"" []	1159869	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 63
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401805	"" []	2043256	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 63
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401805	"" []	3193483	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 63
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401805	"" []	3193484	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 63
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401805	"" []	3193485	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 63
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401805	"" []	4399781	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 63
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401805	"" []	4399782	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 63
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401805	"" []	4399783	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 63
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401805	"" []	5416658	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 63
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401805	"" []	5416659	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 63
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401805	"" []	6152068	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 63
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401805	"" []	6633911	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 63
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401805	"" []	6926175	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 63
Orphanet:401810	\N	\N	"" []	Orphanet:401810	"" []	77265	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 64	Autosomal recessive spastic paraplegia type 64
Orphanet:100981	Orphanet:401810	\N	"" []	Orphanet:401810	"" []	220868	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 64
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:401810	"" []	576672	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 64
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:401810	"" []	1159870	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 64
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401810	"" []	2043257	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 64
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401810	"" []	3193486	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 64
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401810	"" []	3193487	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 64
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401810	"" []	3193488	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 64
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401810	"" []	4399784	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 64
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401810	"" []	4399785	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 64
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401810	"" []	4399786	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 64
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401810	"" []	5416660	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 64
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401810	"" []	5416661	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 64
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401810	"" []	6152069	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 64
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401810	"" []	6633912	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 64
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401810	"" []	6926176	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 64
Orphanet:401815	\N	\N	"" []	Orphanet:401815	"" []	77266	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 66	Autosomal recessive spastic paraplegia type 66
Orphanet:100981	Orphanet:401815	\N	"" []	Orphanet:401815	"" []	220869	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 66
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:401815	"" []	576673	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 66
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:401815	"" []	1159871	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 66
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401815	"" []	2043258	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 66
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401815	"" []	3193489	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 66
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401815	"" []	3193490	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 66
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401815	"" []	3193491	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 66
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401815	"" []	4399787	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 66
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401815	"" []	4399788	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 66
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401815	"" []	4399789	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 66
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401815	"" []	5416662	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 66
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401815	"" []	5416663	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 66
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401815	"" []	6152070	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 66
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401815	"" []	6633913	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 66
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401815	"" []	6926177	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 66
Orphanet:401820	\N	\N	"" []	Orphanet:401820	"" []	77267	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 67	Autosomal recessive spastic paraplegia type 67
Orphanet:100981	Orphanet:401820	\N	"" []	Orphanet:401820	"" []	220870	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 67
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:401820	"" []	576674	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 67
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:401820	"" []	1159872	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 67
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401820	"" []	2043259	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 67
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401820	"" []	3193492	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 67
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401820	"" []	3193493	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 67
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401820	"" []	3193494	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 67
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401820	"" []	4399790	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 67
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401820	"" []	4399791	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 67
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401820	"" []	4399792	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 67
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401820	"" []	5416664	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 67
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401820	"" []	5416665	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 67
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401820	"" []	6152071	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 67
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401820	"" []	6633914	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 67
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401820	"" []	6926178	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 67
Orphanet:401825	\N	\N	"" []	Orphanet:401825	"" []	77268	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 68	Autosomal recessive spastic paraplegia type 68
Orphanet:100981	Orphanet:401825	\N	"" []	Orphanet:401825	"" []	220871	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 68
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:401825	"" []	576675	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 68
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:401825	"" []	1159873	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 68
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401825	"" []	2043260	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 68
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401825	"" []	3193495	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 68
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401825	"" []	3193496	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 68
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401825	"" []	3193497	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 68
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401825	"" []	4399793	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 68
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401825	"" []	4399794	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 68
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401825	"" []	4399795	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 68
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401825	"" []	5416666	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 68
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401825	"" []	5416667	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 68
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401825	"" []	6152072	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 68
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401825	"" []	6633915	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 68
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401825	"" []	6926179	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 68
Orphanet:401830	\N	\N	"" []	Orphanet:401830	"" []	77269	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 69	Autosomal recessive spastic paraplegia type 69
Orphanet:100981	Orphanet:401830	\N	"" []	Orphanet:401830	"" []	220872	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 69
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:401830	"" []	576676	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 69
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:401830	"" []	1159874	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 69
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401830	"" []	2043261	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 69
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401830	"" []	3193498	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 69
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401830	"" []	3193499	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 69
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401830	"" []	3193500	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 69
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401830	"" []	4399796	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 69
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401830	"" []	4399797	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 69
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401830	"" []	4399798	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 69
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401830	"" []	5416668	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 69
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401830	"" []	5416669	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 69
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401830	"" []	6152073	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 69
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401830	"" []	6633916	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 69
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401830	"" []	6926180	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 69
Orphanet:401835	\N	\N	"" []	Orphanet:401835	"" []	77270	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 70	Autosomal recessive spastic paraplegia type 70
Orphanet:100981	Orphanet:401835	\N	"" []	Orphanet:401835	"" []	220873	\N	\N	EFO	1	EFO	Autosomal recessive complex spastic paraplegia	Autosomal recessive spastic paraplegia type 70
Orphanet:102013	Orphanet:100981	\N	"" []	Orphanet:401835	"" []	576677	\N	\N	EFO	2	EFO	Complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 70
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:401835	"" []	1159875	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 70
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401835	"" []	2043262	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 70
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401835	"" []	3193501	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 70
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401835	"" []	3193502	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 70
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401835	"" []	3193503	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 70
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401835	"" []	4399799	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 70
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401835	"" []	4399800	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 70
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401835	"" []	4399801	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 70
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401835	"" []	5416670	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 70
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401835	"" []	5416671	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 70
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401835	"" []	6152074	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 70
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401835	"" []	6633917	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 70
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401835	"" []	6926181	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 70
Orphanet:401840	\N	\N	"" []	Orphanet:401840	"" []	77271	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 71	Autosomal recessive spastic paraplegia type 71
Orphanet:100982	Orphanet:401840	\N	"" []	Orphanet:401840	"" []	220874	\N	\N	EFO	1	EFO	Autosomal recessive pure spastic paraplegia	Autosomal recessive spastic paraplegia type 71
Orphanet:102012	Orphanet:100982	\N	"" []	Orphanet:401840	"" []	576678	\N	\N	EFO	2	EFO	Pure hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 71
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:401840	"" []	1159876	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 71
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401840	"" []	2043263	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 71
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401840	"" []	3193504	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 71
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401840	"" []	3193505	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 71
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401840	"" []	3193506	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 71
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401840	"" []	4399802	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 71
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401840	"" []	4399803	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 71
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401840	"" []	4399804	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 71
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401840	"" []	5416672	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 71
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401840	"" []	5416673	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 71
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401840	"" []	6152075	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 71
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401840	"" []	6633918	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 71
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401840	"" []	6926182	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 71
Orphanet:401849	\N	\N	"" []	Orphanet:401849	"" []	77272	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 72	Autosomal recessive spastic paraplegia type 72
Orphanet:100980	Orphanet:401849	\N	"" []	Orphanet:401849	"" []	220875	\N	\N	EFO	1	EFO	Autosomal dominant pure spastic paraplegia	Autosomal recessive spastic paraplegia type 72
Orphanet:100982	Orphanet:401849	\N	"" []	Orphanet:401849	"" []	220876	\N	\N	EFO	1	EFO	Autosomal recessive pure spastic paraplegia	Autosomal recessive spastic paraplegia type 72
Orphanet:102012	Orphanet:100980	\N	"" []	Orphanet:401849	"" []	576679	\N	\N	EFO	2	EFO	Pure hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 72
Orphanet:102012	Orphanet:100982	\N	"" []	Orphanet:401849	"" []	576680	\N	\N	EFO	2	EFO	Pure hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 72
Orphanet:685	Orphanet:102012	\N	"" []	Orphanet:401849	"" []	1159877	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 72
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:401849	"" []	2043264	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 72
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401849	"" []	3193507	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 72
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401849	"" []	3193508	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 72
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401849	"" []	3193509	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 72
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401849	"" []	4399805	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 72
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401849	"" []	4399806	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 72
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401849	"" []	4399807	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 72
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401849	"" []	5416674	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 72
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401849	"" []	5416675	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 72
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401849	"" []	6152076	\N	\N	EFO	8	EFO	disposition	Autosomal recessive spastic paraplegia type 72
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401849	"" []	6633919	\N	\N	EFO	9	EFO	material property	Autosomal recessive spastic paraplegia type 72
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401849	"" []	6926183	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive spastic paraplegia type 72
Orphanet:401854	\N	\N	"" []	Orphanet:401854	"" []	77273	\N	\N	EFO	0	EFO	Lipoic acid biosynthesis defect	Lipoic acid biosynthesis defect
Orphanet:68380	Orphanet:401854	\N	"" []	Orphanet:401854	"" []	220877	\N	\N	EFO	1	EFO	Mitochondrial disease	Lipoic acid biosynthesis defect
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:401854	"" []	576681	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Lipoic acid biosynthesis defect
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:401854	"" []	576682	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Lipoic acid biosynthesis defect
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:401854	"" []	1159878	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lipoic acid biosynthesis defect
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:401854	"" []	1159879	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Lipoic acid biosynthesis defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401854	"" []	2043265	\N	\N	EFO	4	EFO	genetic disorder	Lipoic acid biosynthesis defect
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401854	"" []	2043266	\N	\N	EFO	4	EFO	genetic disorder	Lipoic acid biosynthesis defect
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:401854	"" []	2043267	\N	\N	EFO	4	EFO	metabolic disease	Lipoic acid biosynthesis defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401854	"" []	3193510	\N	\N	EFO	5	EFO	disease	Lipoic acid biosynthesis defect
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401854	"" []	3193511	\N	\N	EFO	5	EFO	disease	Lipoic acid biosynthesis defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401854	"" []	4399808	\N	\N	EFO	6	EFO	disposition	Lipoic acid biosynthesis defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401854	"" []	5416676	\N	\N	EFO	7	EFO	material property	Lipoic acid biosynthesis defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401854	"" []	6152077	\N	\N	EFO	8	EFO	experimental factor	Lipoic acid biosynthesis defect
Orphanet:401859	\N	\N	"" []	Orphanet:401859	"" []	77274	\N	\N	EFO	0	EFO	Lipoic acid synthetase deficiency	Lipoic acid synthetase deficiency
Orphanet:401854	Orphanet:401859	\N	"" []	Orphanet:401859	"" []	220878	\N	\N	EFO	1	EFO	Lipoic acid biosynthesis defect	Lipoic acid synthetase deficiency
Orphanet:68380	Orphanet:401854	\N	"" []	Orphanet:401859	"" []	576683	\N	\N	EFO	2	EFO	Mitochondrial disease	Lipoic acid synthetase deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:401859	"" []	1159880	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Lipoic acid synthetase deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:401859	"" []	1159881	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Lipoic acid synthetase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:401859	"" []	2043268	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lipoic acid synthetase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:401859	"" []	2043269	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Lipoic acid synthetase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401859	"" []	3193512	\N	\N	EFO	5	EFO	genetic disorder	Lipoic acid synthetase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401859	"" []	3193513	\N	\N	EFO	5	EFO	genetic disorder	Lipoic acid synthetase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:401859	"" []	3193514	\N	\N	EFO	5	EFO	metabolic disease	Lipoic acid synthetase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401859	"" []	4399809	\N	\N	EFO	6	EFO	disease	Lipoic acid synthetase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401859	"" []	4399810	\N	\N	EFO	6	EFO	disease	Lipoic acid synthetase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401859	"" []	5416677	\N	\N	EFO	7	EFO	disposition	Lipoic acid synthetase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401859	"" []	6152078	\N	\N	EFO	8	EFO	material property	Lipoic acid synthetase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401859	"" []	6633920	\N	\N	EFO	9	EFO	experimental factor	Lipoic acid synthetase deficiency
Orphanet:401862	\N	\N	"" []	Orphanet:401862	"" []	77275	\N	\N	EFO	0	EFO	Lipoyl transferase 1 deficiency	Lipoyl transferase 1 deficiency
Orphanet:401854	Orphanet:401862	\N	"" []	Orphanet:401862	"" []	220879	\N	\N	EFO	1	EFO	Lipoic acid biosynthesis defect	Lipoyl transferase 1 deficiency
Orphanet:68380	Orphanet:401854	\N	"" []	Orphanet:401862	"" []	576684	\N	\N	EFO	2	EFO	Mitochondrial disease	Lipoyl transferase 1 deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:401862	"" []	1159882	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Lipoyl transferase 1 deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:401862	"" []	1159883	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Lipoyl transferase 1 deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:401862	"" []	2043270	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lipoyl transferase 1 deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:401862	"" []	2043271	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Lipoyl transferase 1 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401862	"" []	3193515	\N	\N	EFO	5	EFO	genetic disorder	Lipoyl transferase 1 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401862	"" []	3193516	\N	\N	EFO	5	EFO	genetic disorder	Lipoyl transferase 1 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:401862	"" []	3193517	\N	\N	EFO	5	EFO	metabolic disease	Lipoyl transferase 1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401862	"" []	4399811	\N	\N	EFO	6	EFO	disease	Lipoyl transferase 1 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401862	"" []	4399812	\N	\N	EFO	6	EFO	disease	Lipoyl transferase 1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401862	"" []	5416678	\N	\N	EFO	7	EFO	disposition	Lipoyl transferase 1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401862	"" []	6152079	\N	\N	EFO	8	EFO	material property	Lipoyl transferase 1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401862	"" []	6633921	\N	\N	EFO	9	EFO	experimental factor	Lipoyl transferase 1 deficiency
Orphanet:401866	\N	\N	"" []	Orphanet:401866	"" []	77276	\N	\N	EFO	0	EFO	Spasticity-ataxia-gait anomalies syndrome	Spasticity-ataxia-gait anomalies syndrome
Orphanet:316226	Orphanet:401866	\N	"" []	Orphanet:401866	"" []	220880	\N	\N	EFO	1	EFO	Spastic ataxia	Spasticity-ataxia-gait anomalies syndrome
Orphanet:401854	Orphanet:401866	\N	"" []	Orphanet:401866	"" []	220881	\N	\N	EFO	1	EFO	Lipoic acid biosynthesis defect	Spasticity-ataxia-gait anomalies syndrome
Orphanet:183518	Orphanet:316226	\N	"" []	Orphanet:401866	"" []	576685	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Spasticity-ataxia-gait anomalies syndrome
Orphanet:68380	Orphanet:401854	\N	"" []	Orphanet:401866	"" []	576686	\N	\N	EFO	2	EFO	Mitochondrial disease	Spasticity-ataxia-gait anomalies syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:401866	"" []	1159884	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Spasticity-ataxia-gait anomalies syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:401866	"" []	1159885	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Spasticity-ataxia-gait anomalies syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:401866	"" []	1159886	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Spasticity-ataxia-gait anomalies syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401866	"" []	2043272	\N	\N	EFO	4	EFO	genetic disorder	Spasticity-ataxia-gait anomalies syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:401866	"" []	2043273	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spasticity-ataxia-gait anomalies syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:401866	"" []	2043274	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Spasticity-ataxia-gait anomalies syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401866	"" []	4399814	\N	\N	EFO	6	EFO	disease	Spasticity-ataxia-gait anomalies syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401866	"" []	3193519	\N	\N	EFO	5	EFO	genetic disorder	Spasticity-ataxia-gait anomalies syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401866	"" []	3193520	\N	\N	EFO	5	EFO	genetic disorder	Spasticity-ataxia-gait anomalies syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:401866	"" []	3193521	\N	\N	EFO	5	EFO	metabolic disease	Spasticity-ataxia-gait anomalies syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401866	"" []	5182968	\N	\N	EFO	7	EFO	disposition	Spasticity-ataxia-gait anomalies syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401866	"" []	4399815	\N	\N	EFO	6	EFO	disease	Spasticity-ataxia-gait anomalies syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401866	"" []	5998336	\N	\N	EFO	8	EFO	material property	Spasticity-ataxia-gait anomalies syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401866	"" []	6551539	\N	\N	EFO	9	EFO	experimental factor	Spasticity-ataxia-gait anomalies syndrome
Orphanet:401869	\N	\N	"" []	Orphanet:401869	"" []	77277	\N	\N	EFO	0	EFO	Fatal multiple mitochondrial dysfunction syndrome type 1	Fatal multiple mitochondrial dysfunction syndrome type 1
Orphanet:289573	Orphanet:401869	\N	"" []	Orphanet:401869	"" []	220882	\N	\N	EFO	1	EFO	Fatal multiple mitochondrial dysfunction syndrome	Fatal multiple mitochondrial dysfunction syndrome type 1
Orphanet:309136	Orphanet:289573	\N	"" []	Orphanet:401869	"" []	576687	\N	\N	EFO	2	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Fatal multiple mitochondrial dysfunction syndrome type 1
Orphanet:401854	Orphanet:289573	\N	"" []	Orphanet:401869	"" []	576688	\N	\N	EFO	2	EFO	Lipoic acid biosynthesis defect	Fatal multiple mitochondrial dysfunction syndrome type 1
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:401869	"" []	1159887	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Fatal multiple mitochondrial dysfunction syndrome type 1
Orphanet:68380	Orphanet:401854	\N	"" []	Orphanet:401869	"" []	1159888	\N	\N	EFO	3	EFO	Mitochondrial disease	Fatal multiple mitochondrial dysfunction syndrome type 1
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:401869	"" []	2043275	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Fatal multiple mitochondrial dysfunction syndrome type 1
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:401869	"" []	4399816	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Fatal multiple mitochondrial dysfunction syndrome type 1
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:401869	"" []	4399817	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Fatal multiple mitochondrial dysfunction syndrome type 1
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:401869	"" []	3193522	\N	\N	EFO	5	EFO	Mitochondrial disease	Fatal multiple mitochondrial dysfunction syndrome type 1
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:401869	"" []	5060099	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Fatal multiple mitochondrial dysfunction syndrome type 1
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:401869	"" []	5060100	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Fatal multiple mitochondrial dysfunction syndrome type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401869	"" []	5877512	\N	\N	EFO	8	EFO	genetic disorder	Fatal multiple mitochondrial dysfunction syndrome type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401869	"" []	5877513	\N	\N	EFO	8	EFO	genetic disorder	Fatal multiple mitochondrial dysfunction syndrome type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:401869	"" []	5877514	\N	\N	EFO	8	EFO	metabolic disease	Fatal multiple mitochondrial dysfunction syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401869	"" []	6470753	\N	\N	EFO	9	EFO	disease	Fatal multiple mitochondrial dysfunction syndrome type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401869	"" []	6470754	\N	\N	EFO	9	EFO	disease	Fatal multiple mitochondrial dysfunction syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401869	"" []	6848702	\N	\N	EFO	10	EFO	disposition	Fatal multiple mitochondrial dysfunction syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401869	"" []	7068508	\N	\N	EFO	11	EFO	material property	Fatal multiple mitochondrial dysfunction syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401869	"" []	7197170	\N	\N	EFO	12	EFO	experimental factor	Fatal multiple mitochondrial dysfunction syndrome type 1
Orphanet:401874	\N	\N	"" []	Orphanet:401874	"" []	77278	\N	\N	EFO	0	EFO	Fatal multiple mitochondrial dysfunction syndrome type 2	Fatal multiple mitochondrial dysfunction syndrome type 2
Orphanet:289573	Orphanet:401874	\N	"" []	Orphanet:401874	"" []	220883	\N	\N	EFO	1	EFO	Fatal multiple mitochondrial dysfunction syndrome	Fatal multiple mitochondrial dysfunction syndrome type 2
Orphanet:309136	Orphanet:289573	\N	"" []	Orphanet:401874	"" []	576689	\N	\N	EFO	2	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Fatal multiple mitochondrial dysfunction syndrome type 2
Orphanet:401854	Orphanet:289573	\N	"" []	Orphanet:401874	"" []	576690	\N	\N	EFO	2	EFO	Lipoic acid biosynthesis defect	Fatal multiple mitochondrial dysfunction syndrome type 2
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:401874	"" []	1159889	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Fatal multiple mitochondrial dysfunction syndrome type 2
Orphanet:68380	Orphanet:401854	\N	"" []	Orphanet:401874	"" []	1159890	\N	\N	EFO	3	EFO	Mitochondrial disease	Fatal multiple mitochondrial dysfunction syndrome type 2
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:401874	"" []	2043278	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Fatal multiple mitochondrial dysfunction syndrome type 2
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:401874	"" []	4399821	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Fatal multiple mitochondrial dysfunction syndrome type 2
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:401874	"" []	4399822	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Fatal multiple mitochondrial dysfunction syndrome type 2
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:401874	"" []	3193525	\N	\N	EFO	5	EFO	Mitochondrial disease	Fatal multiple mitochondrial dysfunction syndrome type 2
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:401874	"" []	5060101	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Fatal multiple mitochondrial dysfunction syndrome type 2
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:401874	"" []	5060102	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Fatal multiple mitochondrial dysfunction syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401874	"" []	5877515	\N	\N	EFO	8	EFO	genetic disorder	Fatal multiple mitochondrial dysfunction syndrome type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401874	"" []	5877516	\N	\N	EFO	8	EFO	genetic disorder	Fatal multiple mitochondrial dysfunction syndrome type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:401874	"" []	5877517	\N	\N	EFO	8	EFO	metabolic disease	Fatal multiple mitochondrial dysfunction syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401874	"" []	6470755	\N	\N	EFO	9	EFO	disease	Fatal multiple mitochondrial dysfunction syndrome type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401874	"" []	6470756	\N	\N	EFO	9	EFO	disease	Fatal multiple mitochondrial dysfunction syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401874	"" []	6848703	\N	\N	EFO	10	EFO	disposition	Fatal multiple mitochondrial dysfunction syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401874	"" []	7068509	\N	\N	EFO	11	EFO	material property	Fatal multiple mitochondrial dysfunction syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401874	"" []	7197171	\N	\N	EFO	12	EFO	experimental factor	Fatal multiple mitochondrial dysfunction syndrome type 2
Orphanet:401901	\N	\N	"" []	Orphanet:401901	"" []	77279	\N	\N	EFO	0	EFO	Huntington disease-like syndrome due to C9ORF72 expansions	Huntington disease-like syndrome due to C9ORF72 expansions
Orphanet:276058	Orphanet:401901	\N	"" []	Orphanet:401901	"" []	220884	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease with dementia	Huntington disease-like syndrome due to C9ORF72 expansions
Orphanet:306719	Orphanet:401901	\N	"" []	Orphanet:401901	"" []	220885	\N	\N	EFO	1	EFO	Neurodegenerative disease with chorea	Huntington disease-like syndrome due to C9ORF72 expansions
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:401901	"" []	576691	\N	\N	EFO	2	EFO	Genetic dementia	Huntington disease-like syndrome due to C9ORF72 expansions
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:401901	"" []	576692	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Huntington disease-like syndrome due to C9ORF72 expansions
EFO:0005772	Orphanet:306719	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401901	"" []	576693	\N	\N	EFO	2	EFO	neurodegenerative disease	Huntington disease-like syndrome due to C9ORF72 expansions
Orphanet:183521	Orphanet:306719	\N	"" []	Orphanet:401901	"" []	576694	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Huntington disease-like syndrome due to C9ORF72 expansions
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401901	"" []	1159891	\N	\N	EFO	3	EFO	brain disease	Huntington disease-like syndrome due to C9ORF72 expansions
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:401901	"" []	1159892	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Huntington disease-like syndrome due to C9ORF72 expansions
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401901	"" []	1159893	\N	\N	EFO	3	EFO	neurodegenerative disease	Huntington disease-like syndrome due to C9ORF72 expansions
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:401901	"" []	1159894	\N	\N	EFO	3	EFO	brain disease	Huntington disease-like syndrome due to C9ORF72 expansions
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:401901	"" []	1159895	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Huntington disease-like syndrome due to C9ORF72 expansions
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401901	"" []	2043283	\N	\N	EFO	4	EFO	nervous system disease	Huntington disease-like syndrome due to C9ORF72 expansions
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:401901	"" []	1159897	\N	\N	EFO	3	EFO	movement disorder	Huntington disease-like syndrome due to C9ORF72 expansions
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:401901	"" []	1159898	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Huntington disease-like syndrome due to C9ORF72 expansions
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401901	"" []	2043281	\N	\N	EFO	4	EFO	nervous system disease	Huntington disease-like syndrome due to C9ORF72 expansions
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401901	"" []	2043282	\N	\N	EFO	4	EFO	genetic disorder	Huntington disease-like syndrome due to C9ORF72 expansions
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401901	"" []	3000361	\N	\N	EFO	5	EFO	disease	Huntington disease-like syndrome due to C9ORF72 expansions
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401901	"" []	2043285	\N	\N	EFO	4	EFO	nervous system disease	Huntington disease-like syndrome due to C9ORF72 expansions
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401901	"" []	3193528	\N	\N	EFO	5	EFO	disease	Huntington disease-like syndrome due to C9ORF72 expansions
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401901	"" []	4134075	\N	\N	EFO	6	EFO	disposition	Huntington disease-like syndrome due to C9ORF72 expansions
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401901	"" []	5182969	\N	\N	EFO	7	EFO	material property	Huntington disease-like syndrome due to C9ORF72 expansions
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401901	"" []	5998337	\N	\N	EFO	8	EFO	experimental factor	Huntington disease-like syndrome due to C9ORF72 expansions
Orphanet:401911	\N	\N	"" []	Orphanet:401911	"" []	77280	\N	\N	EFO	0	EFO	AXIN2-related attenuated familial adenomatous polyposis	AXIN2-related attenuated familial adenomatous polyposis
Orphanet:220460	Orphanet:401911	\N	"-related attenuated familial adenomatous polyposis." []	Orphanet:401911	"" []	220886	\N	\N	EFO	1	EFO	Attenuated familial adenomatous polyposis	AXIN2-related attenuated familial adenomatous polyposis
Orphanet:140162	Orphanet:220460	\N	"" []	Orphanet:401911	"" []	576695	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	AXIN2-related attenuated familial adenomatous polyposis
Orphanet:271835	Orphanet:220460	\N	"" []	Orphanet:401911	"" []	576696	\N	\N	EFO	2	EFO	Genetic digestive tract tumor	AXIN2-related attenuated familial adenomatous polyposis
Orphanet:363314	Orphanet:220460	\N	"" []	Orphanet:401911	"" []	576697	\N	\N	EFO	2	EFO	Genetic intestinal polyposis	AXIN2-related attenuated familial adenomatous polyposis
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401911	"" []	1159899	\N	\N	EFO	3	EFO	genetic disorder	AXIN2-related attenuated familial adenomatous polyposis
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:401911	"" []	1159900	\N	\N	EFO	3	EFO	digestive system disease	AXIN2-related attenuated familial adenomatous polyposis
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:401911	"" []	1159901	\N	\N	EFO	3	EFO	Rare genetic tumor	AXIN2-related attenuated familial adenomatous polyposis
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:401911	"" []	1159902	\N	\N	EFO	3	EFO	Genetic intestinal disease	AXIN2-related attenuated familial adenomatous polyposis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401911	"" []	4399828	\N	\N	EFO	6	EFO	disease	AXIN2-related attenuated familial adenomatous polyposis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401911	"" []	3193533	\N	\N	EFO	5	EFO	disease	AXIN2-related attenuated familial adenomatous polyposis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401911	"" []	2043288	\N	\N	EFO	4	EFO	genetic disorder	AXIN2-related attenuated familial adenomatous polyposis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:401911	"" []	2043289	\N	\N	EFO	4	EFO	neoplasm	AXIN2-related attenuated familial adenomatous polyposis
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:401911	"" []	2043290	\N	\N	EFO	4	EFO	digestive system disease	AXIN2-related attenuated familial adenomatous polyposis
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:401911	"" []	2043291	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	AXIN2-related attenuated familial adenomatous polyposis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401911	"" []	5060103	\N	\N	EFO	7	EFO	disposition	AXIN2-related attenuated familial adenomatous polyposis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401911	"" []	3193532	\N	\N	EFO	5	EFO	disease	AXIN2-related attenuated familial adenomatous polyposis
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401911	"" []	3193534	\N	\N	EFO	5	EFO	genetic disorder	AXIN2-related attenuated familial adenomatous polyposis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401911	"" []	5877518	\N	\N	EFO	8	EFO	material property	AXIN2-related attenuated familial adenomatous polyposis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401911	"" []	6470757	\N	\N	EFO	9	EFO	experimental factor	AXIN2-related attenuated familial adenomatous polyposis
Orphanet:401923	\N	\N	"" []	Orphanet:401923	"" []	77281	\N	\N	EFO	0	EFO	9q31.1q31.3 microdeletion syndrome	9q31.1q31.3 microdeletion syndrome
Orphanet:102283	Orphanet:401923	\N	"" []	Orphanet:401923	"" []	220887	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	9q31.1q31.3 microdeletion syndrome
Orphanet:183763	Orphanet:401923	\N	"" []	Orphanet:401923	"" []	220888	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	9q31.1q31.3 microdeletion syndrome
Orphanet:262074	Orphanet:401923	\N	"" []	Orphanet:401923	"" []	220889	\N	\N	EFO	1	EFO	Partial monosomy of the long arm of chromosome 9	9q31.1q31.3 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:401923	"" []	576698	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	9q31.1q31.3 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:401923	"" []	576699	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	9q31.1q31.3 microdeletion syndrome
Orphanet:261806	Orphanet:262074	\N	"" []	Orphanet:401923	"" []	576700	\N	\N	EFO	2	EFO	Partial deletion of chromosome 9	9q31.1q31.3 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:401923	"" []	1159903	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	9q31.1q31.3 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:401923	"" []	1159904	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	9q31.1q31.3 microdeletion syndrome
Orphanet:98142	Orphanet:261806	\N	"" []	Orphanet:401923	"" []	1159905	\N	\N	EFO	3	EFO	Partial autosomal monosomy	9q31.1q31.3 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401923	"" []	2043292	\N	\N	EFO	4	EFO	genetic disorder	9q31.1q31.3 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401923	"" []	2043293	\N	\N	EFO	4	EFO	genetic disorder	9q31.1q31.3 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:401923	"" []	2043294	\N	\N	EFO	4	EFO	Autosomal monosomy	9q31.1q31.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401923	"" []	6152084	\N	\N	EFO	8	EFO	disease	9q31.1q31.3 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:401923	"" []	3193536	\N	\N	EFO	5	EFO	Autosomal anomaly	9q31.1q31.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401923	"" []	6410234	\N	\N	EFO	9	EFO	disposition	9q31.1q31.3 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:401923	"" []	4399830	\N	\N	EFO	6	EFO	Chromosomal anomaly	9q31.1q31.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401923	"" []	6808070	\N	\N	EFO	10	EFO	material property	9q31.1q31.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401923	"" []	5416687	\N	\N	EFO	7	EFO	genetic disorder	9q31.1q31.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401923	"" []	7048761	\N	\N	EFO	11	EFO	experimental factor	9q31.1q31.3 microdeletion syndrome
Orphanet:401935	\N	\N	"" []	Orphanet:401935	"" []	77282	\N	\N	EFO	0	EFO	14q24.1q24.3 microdeletion syndrome	14q24.1q24.3 microdeletion syndrome
Orphanet:102283	Orphanet:401935	\N	"" []	Orphanet:401935	"" []	220890	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	14q24.1q24.3 microdeletion syndrome
Orphanet:183763	Orphanet:401935	\N	"" []	Orphanet:401935	"" []	220891	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	14q24.1q24.3 microdeletion syndrome
Orphanet:262110	Orphanet:401935	\N	"" []	Orphanet:401935	"" []	220892	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 14	14q24.1q24.3 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:401935	"" []	576701	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	14q24.1q24.3 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:401935	"" []	576702	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	14q24.1q24.3 microdeletion syndrome
Orphanet:98142	Orphanet:262110	\N	"" []	Orphanet:401935	"" []	576703	\N	\N	EFO	2	EFO	Partial autosomal monosomy	14q24.1q24.3 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:401935	"" []	1159906	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	14q24.1q24.3 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:401935	"" []	1159907	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	14q24.1q24.3 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:401935	"" []	1159908	\N	\N	EFO	3	EFO	Autosomal monosomy	14q24.1q24.3 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401935	"" []	2043295	\N	\N	EFO	4	EFO	genetic disorder	14q24.1q24.3 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401935	"" []	2043296	\N	\N	EFO	4	EFO	genetic disorder	14q24.1q24.3 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:401935	"" []	2043297	\N	\N	EFO	4	EFO	Autosomal anomaly	14q24.1q24.3 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401935	"" []	5416689	\N	\N	EFO	7	EFO	disease	14q24.1q24.3 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:401935	"" []	3193538	\N	\N	EFO	5	EFO	Chromosomal anomaly	14q24.1q24.3 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401935	"" []	5877519	\N	\N	EFO	8	EFO	disposition	14q24.1q24.3 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401935	"" []	4399832	\N	\N	EFO	6	EFO	genetic disorder	14q24.1q24.3 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401935	"" []	6470758	\N	\N	EFO	9	EFO	material property	14q24.1q24.3 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401935	"" []	6848704	\N	\N	EFO	10	EFO	experimental factor	14q24.1q24.3 microdeletion syndrome
Orphanet:401942	\N	\N	"" []	Orphanet:401942	"" []	77283	\N	\N	EFO	0	EFO	Familial median cleft of the upper and lower lips	Familial median cleft of the upper and lower lips
Orphanet:183583	Orphanet:401942	\N	"" []	Orphanet:401942	"" []	220893	\N	\N	EFO	1	EFO	Genetic head and neck malformation	Familial median cleft of the upper and lower lips
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:401942	"" []	576704	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Familial median cleft of the upper and lower lips
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401942	"" []	1159909	\N	\N	EFO	3	EFO	genetic disorder	Familial median cleft of the upper and lower lips
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401942	"" []	2043298	\N	\N	EFO	4	EFO	disease	Familial median cleft of the upper and lower lips
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401942	"" []	3193539	\N	\N	EFO	5	EFO	disposition	Familial median cleft of the upper and lower lips
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401942	"" []	4399833	\N	\N	EFO	6	EFO	material property	Familial median cleft of the upper and lower lips
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401942	"" []	5416690	\N	\N	EFO	7	EFO	experimental factor	Familial median cleft of the upper and lower lips
Orphanet:401945	\N	\N	"" []	Orphanet:401945	"" []	77284	\N	\N	EFO	0	EFO	Moyamoya disease with early-onset achalasia	Moyamoya disease with early-onset achalasia
Orphanet:165658	Orphanet:401945	\N	"" []	Orphanet:401945	"" []	220894	\N	\N	EFO	1	EFO	Genetic gastro-esophageal disease	Moyamoya disease with early-onset achalasia
Orphanet:183503	Orphanet:401945	\N	"" []	Orphanet:401945	"" []	220895	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Moyamoya disease with early-onset achalasia
EFO:0000405	Orphanet:165658	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:401945	"" []	576705	\N	\N	EFO	2	EFO	digestive system disease	Moyamoya disease with early-onset achalasia
Orphanet:165652	Orphanet:165658	\N	"" []	Orphanet:401945	"" []	576706	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Moyamoya disease with early-onset achalasia
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:401945	"" []	576707	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Moyamoya disease with early-onset achalasia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401945	"" []	1159910	\N	\N	EFO	3	EFO	disease	Moyamoya disease with early-onset achalasia
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401945	"" []	1159911	\N	\N	EFO	3	EFO	genetic disorder	Moyamoya disease with early-onset achalasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401945	"" []	1159912	\N	\N	EFO	3	EFO	genetic disorder	Moyamoya disease with early-onset achalasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401945	"" []	3193541	\N	\N	EFO	5	EFO	disposition	Moyamoya disease with early-onset achalasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401945	"" []	2043300	\N	\N	EFO	4	EFO	disease	Moyamoya disease with early-onset achalasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401945	"" []	4134077	\N	\N	EFO	6	EFO	material property	Moyamoya disease with early-onset achalasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401945	"" []	5182971	\N	\N	EFO	7	EFO	experimental factor	Moyamoya disease with early-onset achalasia
Orphanet:401948	\N	\N	"" []	Orphanet:401948	"" []	77285	\N	\N	EFO	0	EFO	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Orphanet:79167	Orphanet:401948	\N	"" []	Orphanet:401948	"" []	220896	\N	\N	EFO	1	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Orphanet:79177	Orphanet:401948	\N	"" []	Orphanet:401948	"" []	220897	\N	\N	EFO	1	EFO	Gluconeogenesis disorder	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Orphanet:79197	Orphanet:401948	\N	"" []	Orphanet:401948	"" []	220898	\N	\N	EFO	1	EFO	Disorder of branched-chain amino acid metabolism	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:401948	"" []	576708	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Orphanet:79161	Orphanet:79177	\N	"" []	Orphanet:401948	"" []	576709	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Orphanet:79062	Orphanet:79197	\N	"" []	Orphanet:401948	"" []	576710	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:401948	"" []	1159913	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:401948	"" []	1159914	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401948	"" []	2043301	\N	\N	EFO	4	EFO	genetic disorder	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:401948	"" []	2043302	\N	\N	EFO	4	EFO	metabolic disease	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401948	"" []	3193542	\N	\N	EFO	5	EFO	disease	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401948	"" []	3193543	\N	\N	EFO	5	EFO	disease	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401948	"" []	4399835	\N	\N	EFO	6	EFO	disposition	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401948	"" []	5416691	\N	\N	EFO	7	EFO	material property	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401948	"" []	6152086	\N	\N	EFO	8	EFO	experimental factor	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Orphanet:401953	\N	\N	"" []	Orphanet:401953	"" []	77286	\N	\N	EFO	0	EFO	Episodic ataxia with slurred speech	Episodic ataxia with slurred speech
Orphanet:211062	Orphanet:401953	\N	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	Orphanet:401953	"" []	220899	\N	\N	EFO	1	EFO	Hereditary episodic ataxia	Episodic ataxia with slurred speech
Orphanet:183518	Orphanet:211062	\N	"" []	Orphanet:401953	"" []	576711	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Episodic ataxia with slurred speech
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:401953	"" []	1159915	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Episodic ataxia with slurred speech
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401953	"" []	2043303	\N	\N	EFO	4	EFO	genetic disorder	Episodic ataxia with slurred speech
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401953	"" []	3193544	\N	\N	EFO	5	EFO	disease	Episodic ataxia with slurred speech
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401953	"" []	4399836	\N	\N	EFO	6	EFO	disposition	Episodic ataxia with slurred speech
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401953	"" []	5416692	\N	\N	EFO	7	EFO	material property	Episodic ataxia with slurred speech
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401953	"" []	6152087	\N	\N	EFO	8	EFO	experimental factor	Episodic ataxia with slurred speech
Orphanet:401959	\N	\N	"" []	Orphanet:401959	"" []	77287	\N	\N	EFO	0	EFO	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Orphanet:166478	Orphanet:401959	\N	"" []	Orphanet:401959	"" []	220900	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Orphanet:269567	Orphanet:401959	\N	"" []	Orphanet:401959	"" []	220901	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:401959	"" []	576712	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:401959	"" []	576713	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:401959	"" []	1159916	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:401959	"" []	1159917	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401959	"" []	3193547	\N	\N	EFO	5	EFO	genetic disorder	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:401959	"" []	2043305	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:401959	"" []	2043306	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401959	"" []	4134078	\N	\N	EFO	6	EFO	disease	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401959	"" []	3193546	\N	\N	EFO	5	EFO	genetic disorder	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401959	"" []	5182972	\N	\N	EFO	7	EFO	disposition	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401959	"" []	5998339	\N	\N	EFO	8	EFO	material property	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401959	"" []	6551540	\N	\N	EFO	9	EFO	experimental factor	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Orphanet:401964	\N	\N	"" []	Orphanet:401964	"" []	77288	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Orphanet:64746	Orphanet:401964	\N	"" []	Orphanet:401964	"" []	220902	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:401964	"" []	576714	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:401964	"" []	576715	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:401964	"" []	1159918	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:401964	"" []	1159919	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:401964	"" []	2043307	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:401964	"" []	2043308	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:401964	"" []	3193549	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:401964	"" []	3193548	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401964	"" []	4134079	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:401964	"" []	4399838	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401964	"" []	5182973	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401964	"" []	5416694	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401964	"" []	5998340	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401964	"" []	6551541	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401964	"" []	6889471	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Orphanet:401973	\N	\N	"" []	Orphanet:401973	"" []	77289	\N	\N	EFO	0	EFO	MEND syndrome	MEND syndrome
Orphanet:183763	Orphanet:401973	\N	"" []	Orphanet:401973	"" []	220903	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	MEND syndrome
Orphanet:79195	Orphanet:401973	\N	"" []	Orphanet:401973	"" []	220904	\N	\N	EFO	1	EFO	Sterol biosynthesis disorder	MEND syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:401973	"" []	576716	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	MEND syndrome
Orphanet:139009	Orphanet:79195	\N	"" []	Orphanet:401973	"" []	576717	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	MEND syndrome
Orphanet:79226	Orphanet:79195	\N	"" []	Orphanet:401973	"" []	576718	\N	\N	EFO	2	EFO	Sterol metabolism disorder	MEND syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:401973	"" []	1159920	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	MEND syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:401973	"" []	1159921	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	MEND syndrome
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:401973	"" []	1159922	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	MEND syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401973	"" []	2043310	\N	\N	EFO	4	EFO	genetic disorder	MEND syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401973	"" []	2043311	\N	\N	EFO	4	EFO	genetic disorder	MEND syndrome
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:401973	"" []	2043312	\N	\N	EFO	4	EFO	Inborn errors of metabolism	MEND syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401973	"" []	4399841	\N	\N	EFO	6	EFO	disease	MEND syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401973	"" []	3193552	\N	\N	EFO	5	EFO	genetic disorder	MEND syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:401973	"" []	3193553	\N	\N	EFO	5	EFO	metabolic disease	MEND syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401973	"" []	5182974	\N	\N	EFO	7	EFO	disposition	MEND syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401973	"" []	4399842	\N	\N	EFO	6	EFO	disease	MEND syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401973	"" []	5998341	\N	\N	EFO	8	EFO	material property	MEND syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401973	"" []	6551542	\N	\N	EFO	9	EFO	experimental factor	MEND syndrome
Orphanet:401979	\N	\N	"" []	Orphanet:401979	"" []	77290	\N	\N	EFO	0	EFO	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
Orphanet:93434	Orphanet:401979	\N	"" []	Orphanet:401979	"" []	220905	\N	\N	EFO	1	EFO	Spondylodysplastic dysplasia	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:401979	"" []	576719	\N	\N	EFO	2	EFO	Primary bone dysplasia	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:401979	"" []	1159923	\N	\N	EFO	3	EFO	Rare genetic bone disease	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:401979	"" []	1159924	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401979	"" []	2043313	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:401979	"" []	2043314	\N	\N	EFO	4	EFO	bone disease	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:401979	"" []	2043315	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401979	"" []	4399845	\N	\N	EFO	6	EFO	disease	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:401979	"" []	3193555	\N	\N	EFO	5	EFO	skeletal system disease	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401979	"" []	3193556	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401979	"" []	5182975	\N	\N	EFO	7	EFO	disposition	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401979	"" []	4399844	\N	\N	EFO	6	EFO	disease	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401979	"" []	5998342	\N	\N	EFO	8	EFO	material property	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401979	"" []	6551543	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive spondylometaphyseal dysplasia, Mgarban type
Orphanet:401986	\N	\N	"" []	Orphanet:401986	"" []	77291	\N	\N	EFO	0	EFO	1p31p32 microdeletion syndrome	1p31p32 microdeletion syndrome
Orphanet:261857	Orphanet:401986	\N	"" []	Orphanet:401986	"" []	220906	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 1	1p31p32 microdeletion syndrome
Orphanet:330197	Orphanet:401986	\N	"" []	Orphanet:401986	"" []	220907	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	1p31p32 microdeletion syndrome
Orphanet:261766	Orphanet:261857	\N	"" []	Orphanet:401986	"" []	576720	\N	\N	EFO	2	EFO	Partial deletion of chromosome 1	1p31p32 microdeletion syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:401986	"" []	576721	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	1p31p32 microdeletion syndrome
Orphanet:98142	Orphanet:261766	\N	"" []	Orphanet:401986	"" []	1159925	\N	\N	EFO	3	EFO	Partial autosomal monosomy	1p31p32 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:401986	"" []	1159926	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	1p31p32 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:401986	"" []	2043316	\N	\N	EFO	4	EFO	Autosomal monosomy	1p31p32 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401986	"" []	2043317	\N	\N	EFO	4	EFO	genetic disorder	1p31p32 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:401986	"" []	3193557	\N	\N	EFO	5	EFO	Autosomal anomaly	1p31p32 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401986	"" []	6152092	\N	\N	EFO	8	EFO	disease	1p31p32 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:401986	"" []	4399846	\N	\N	EFO	6	EFO	Chromosomal anomaly	1p31p32 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401986	"" []	6410235	\N	\N	EFO	9	EFO	disposition	1p31p32 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401986	"" []	5416698	\N	\N	EFO	7	EFO	genetic disorder	1p31p32 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401986	"" []	6808071	\N	\N	EFO	10	EFO	material property	1p31p32 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401986	"" []	7048762	\N	\N	EFO	11	EFO	experimental factor	1p31p32 microdeletion syndrome
Orphanet:401993	\N	\N	"" []	Orphanet:401993	"" []	77292	\N	\N	EFO	0	EFO	Cold-induced sweating syndrome-hyperthermia spectrum	Cold-induced sweating syndrome-hyperthermia spectrum
Orphanet:140477	Orphanet:401993	\N	"" []	Orphanet:401993	"" []	220908	\N	\N	EFO	1	EFO	Autosomal recessive hereditary sensory and autonomic neuropathy	Cold-induced sweating syndrome-hyperthermia spectrum
Orphanet:140471	Orphanet:140477	\N	"" []	Orphanet:401993	"" []	576722	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Cold-induced sweating syndrome-hyperthermia spectrum
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:401993	"" []	1159927	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Cold-induced sweating syndrome-hyperthermia spectrum
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:401993	"" []	2043318	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cold-induced sweating syndrome-hyperthermia spectrum
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401993	"" []	3193559	\N	\N	EFO	5	EFO	genetic disorder	Cold-induced sweating syndrome-hyperthermia spectrum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401993	"" []	4399848	\N	\N	EFO	6	EFO	disease	Cold-induced sweating syndrome-hyperthermia spectrum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401993	"" []	5416700	\N	\N	EFO	7	EFO	disposition	Cold-induced sweating syndrome-hyperthermia spectrum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401993	"" []	6152094	\N	\N	EFO	8	EFO	material property	Cold-induced sweating syndrome-hyperthermia spectrum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401993	"" []	6633925	\N	\N	EFO	9	EFO	experimental factor	Cold-induced sweating syndrome-hyperthermia spectrum
Orphanet:401996	\N	\N	"" []	Orphanet:401996	"" []	77293	\N	\N	EFO	0	EFO	Karyomegalic interstitial nephritis	Karyomegalic interstitial nephritis
Orphanet:93587	Orphanet:401996	\N	"" []	Orphanet:401996	"" []	220909	\N	\N	EFO	1	EFO	Familial cystic renal disease	Karyomegalic interstitial nephritis
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:401996	"" []	576723	\N	\N	EFO	2	EFO	kidney disease	Karyomegalic interstitial nephritis
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:401996	"" []	576724	\N	\N	EFO	2	EFO	Rare genetic renal disease	Karyomegalic interstitial nephritis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401996	"" []	1159928	\N	\N	EFO	3	EFO	disease	Karyomegalic interstitial nephritis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:401996	"" []	1159929	\N	\N	EFO	3	EFO	genetic disorder	Karyomegalic interstitial nephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:401996	"" []	3193561	\N	\N	EFO	5	EFO	disposition	Karyomegalic interstitial nephritis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:401996	"" []	2043320	\N	\N	EFO	4	EFO	disease	Karyomegalic interstitial nephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:401996	"" []	4134080	\N	\N	EFO	6	EFO	material property	Karyomegalic interstitial nephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:401996	"" []	5182976	\N	\N	EFO	7	EFO	experimental factor	Karyomegalic interstitial nephritis
Orphanet:402003	\N	\N	"" []	Orphanet:402003	"" []	77294	\N	\N	EFO	0	EFO	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Orphanet:307846	Orphanet:402003	\N	"" []	Orphanet:402003	"" []	220910	\N	\N	EFO	1	EFO	Isolated focal palmoplantar keratoderma	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Orphanet:307837	Orphanet:307846	\N	"" []	Orphanet:402003	"" []	576725	\N	\N	EFO	2	EFO	Focal palmoplantar keratoderma	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:402003	"" []	1159930	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:402003	"" []	2043321	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:402003	"" []	3193562	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:402003	"" []	4399850	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:402003	"" []	4399851	\N	\N	EFO	6	EFO	skin disease	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:402003	"" []	5416701	\N	\N	EFO	7	EFO	disease	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:402003	"" []	5416702	\N	\N	EFO	7	EFO	disease	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:402003	"" []	6152095	\N	\N	EFO	8	EFO	disposition	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:402003	"" []	6633926	\N	\N	EFO	9	EFO	material property	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:402003	"" []	6926186	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Orphanet:402041	\N	\N	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	77295	\N	\N	EFO	0	EFO	Autosomal recessive distal renal tubular acidosis	Autosomal recessive distal renal tubular acidosis
Orphanet:18	Orphanet:402041	\N	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	220911	\N	\N	EFO	1	EFO	Distal renal tubular acidosis	Autosomal recessive distal renal tubular acidosis
Orphanet:90642	Orphanet:402041	\N	"" []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	220912	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Autosomal recessive distal renal tubular acidosis
Orphanet:314822	Orphanet:18	\N	"" []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	576726	\N	\N	EFO	2	EFO	Primary renal tubular acidosis	Autosomal recessive distal renal tubular acidosis
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	576727	\N	\N	EFO	2	EFO	Rare genetic deafness	Autosomal recessive distal renal tubular acidosis
Orphanet:183592	Orphanet:314822	\N	"" []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	1159931	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Autosomal recessive distal renal tubular acidosis
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	1159932	\N	\N	EFO	3	EFO	genetic disorder	Autosomal recessive distal renal tubular acidosis
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	1159933	\N	\N	EFO	3	EFO	auditory system disease	Autosomal recessive distal renal tubular acidosis
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	2043322	\N	\N	EFO	4	EFO	Rare genetic renal disease	Autosomal recessive distal renal tubular acidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	4399852	\N	\N	EFO	6	EFO	disease	Autosomal recessive distal renal tubular acidosis
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	2043324	\N	\N	EFO	4	EFO	sensory system disease	Autosomal recessive distal renal tubular acidosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	3193563	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive distal renal tubular acidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	5060104	\N	\N	EFO	7	EFO	disposition	Autosomal recessive distal renal tubular acidosis
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	3193565	\N	\N	EFO	5	EFO	nervous system disease	Autosomal recessive distal renal tubular acidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	5877520	\N	\N	EFO	8	EFO	material property	Autosomal recessive distal renal tubular acidosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	4399854	\N	\N	EFO	6	EFO	disease	Autosomal recessive distal renal tubular acidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:402041	"Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." []	6470759	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive distal renal tubular acidosis
Orphanet:402075	\N	\N	"" []	Orphanet:402075	"" []	77296	\N	\N	EFO	0	EFO	Familial bicuspid aortic valve	Familial bicuspid aortic valve
Orphanet:271853	Orphanet:402075	\N	"" []	Orphanet:402075	"" []	220913	\N	\N	EFO	1	EFO	Genetic cardiac anomaly	Familial bicuspid aortic valve
Orphanet:285014	Orphanet:402075	\N	"" []	Orphanet:402075	"" []	220914	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Familial bicuspid aortic valve
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:402075	"" []	576728	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Familial bicuspid aortic valve
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:402075	"" []	576729	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Familial bicuspid aortic valve
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:402075	"" []	1159934	\N	\N	EFO	3	EFO	genetic disorder	Familial bicuspid aortic valve
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:402075	"" []	1159935	\N	\N	EFO	3	EFO	genetic disorder	Familial bicuspid aortic valve
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:402075	"" []	1159936	\N	\N	EFO	3	EFO	vascular disease	Familial bicuspid aortic valve
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:402075	"" []	2043325	\N	\N	EFO	4	EFO	disease	Familial bicuspid aortic valve
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:402075	"" []	2043326	\N	\N	EFO	4	EFO	cardiovascular disease	Familial bicuspid aortic valve
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:402075	"" []	4399856	\N	\N	EFO	6	EFO	disposition	Familial bicuspid aortic valve
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:402075	"" []	3193567	\N	\N	EFO	5	EFO	disease	Familial bicuspid aortic valve
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:402075	"" []	5182977	\N	\N	EFO	7	EFO	material property	Familial bicuspid aortic valve
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:402075	"" []	5998343	\N	\N	EFO	8	EFO	experimental factor	Familial bicuspid aortic valve
Orphanet:402082	\N	\N	"" []	Orphanet:402082	"" []	77297	\N	\N	EFO	0	EFO	Progressive myoclonic epilepsy type 5	Progressive myoclonic epilepsy type 5
Orphanet:98261	Orphanet:402082	\N	"" []	Orphanet:402082	"" []	220915	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Progressive myoclonic epilepsy type 5
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:402082	"" []	576730	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Progressive myoclonic epilepsy type 5
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:402082	"" []	576731	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Progressive myoclonic epilepsy type 5
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:402082	"" []	1159937	\N	\N	EFO	3	EFO	Epilepsy syndrome	Progressive myoclonic epilepsy type 5
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:402082	"" []	1159938	\N	\N	EFO	3	EFO	Epilepsy syndrome	Progressive myoclonic epilepsy type 5
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:402082	"" []	2043327	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Progressive myoclonic epilepsy type 5
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:402082	"" []	3193568	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Progressive myoclonic epilepsy type 5
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:402082	"" []	4399857	\N	\N	EFO	6	EFO	genetic disorder	Progressive myoclonic epilepsy type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:402082	"" []	5416705	\N	\N	EFO	7	EFO	disease	Progressive myoclonic epilepsy type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:402082	"" []	6152096	\N	\N	EFO	8	EFO	disposition	Progressive myoclonic epilepsy type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:402082	"" []	6633927	\N	\N	EFO	9	EFO	material property	Progressive myoclonic epilepsy type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:402082	"" []	6926187	\N	\N	EFO	10	EFO	experimental factor	Progressive myoclonic epilepsy type 5
Orphanet:402364	\N	\N	"" []	Orphanet:402364	"" []	77298	\N	\N	EFO	0	EFO	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Orphanet:269528	Orphanet:402364	\N	"" []	Orphanet:402364	"" []	220916	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:402364	"" []	576732	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:402364	"" []	1159939	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:402364	"" []	2043328	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:402364	"" []	2043329	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:402364	"" []	3193569	\N	\N	EFO	5	EFO	genetic disorder	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:402364	"" []	3193570	\N	\N	EFO	5	EFO	genetic disorder	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:402364	"" []	4399858	\N	\N	EFO	6	EFO	disease	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:402364	"" []	5416706	\N	\N	EFO	7	EFO	disposition	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:402364	"" []	6152097	\N	\N	EFO	8	EFO	material property	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:402364	"" []	6633928	\N	\N	EFO	9	EFO	experimental factor	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Orphanet:403	\N	\N	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	77299	\N	\N	EFO	0	EFO	Familial hyperaldosteronism type I	Familial hyperaldosteronism type I
Orphanet:156629	Orphanet:403	\N	"" []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	220917	\N	\N	EFO	1	EFO	Genetic hypertension	Familial hyperaldosteronism type I
Orphanet:235936	Orphanet:403	\N	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	220918	\N	\N	EFO	1	EFO	Familial hyperaldosteronism	Familial hyperaldosteronism type I
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	576733	\N	\N	EFO	2	EFO	Rare genetic renal disease	Familial hyperaldosteronism type I
Orphanet:371861	Orphanet:235936	\N	"" []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	576734	\N	\N	EFO	2	EFO	Genetic hyperaldosteronism	Familial hyperaldosteronism type I
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	1159940	\N	\N	EFO	3	EFO	genetic disorder	Familial hyperaldosteronism type I
Orphanet:183637	Orphanet:371861	\N	"" []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	1159941	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Familial hyperaldosteronism type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	4399860	\N	\N	EFO	6	EFO	disease	Familial hyperaldosteronism type I
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	2043331	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Familial hyperaldosteronism type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	5060105	\N	\N	EFO	7	EFO	disposition	Familial hyperaldosteronism type I
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	3193572	\N	\N	EFO	5	EFO	genetic disorder	Familial hyperaldosteronism type I
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	3193573	\N	\N	EFO	5	EFO	endocrine system disease	Familial hyperaldosteronism type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	5877521	\N	\N	EFO	8	EFO	material property	Familial hyperaldosteronism type I
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	4399861	\N	\N	EFO	6	EFO	disease	Familial hyperaldosteronism type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:403	"Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." []	6470760	\N	\N	EFO	9	EFO	experimental factor	Familial hyperaldosteronism type I
Orphanet:404	\N	\N	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	77300	\N	\N	EFO	0	EFO	Familial hyperaldosteronism type II	Familial hyperaldosteronism type II
Orphanet:235936	Orphanet:404	\N	"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	220919	\N	\N	EFO	1	EFO	Familial hyperaldosteronism	Familial hyperaldosteronism type II
Orphanet:271847	Orphanet:404	\N	"" []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	220920	\N	\N	EFO	1	EFO	Genetic endocrine tumor	Familial hyperaldosteronism type II
Orphanet:371861	Orphanet:235936	\N	"" []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	576735	\N	\N	EFO	2	EFO	Genetic hyperaldosteronism	Familial hyperaldosteronism type II
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	576736	\N	\N	EFO	2	EFO	endocrine neoplasm	Familial hyperaldosteronism type II
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	576737	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial hyperaldosteronism type II
Orphanet:183637	Orphanet:371861	\N	"" []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	1159942	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Familial hyperaldosteronism type II
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	1159943	\N	\N	EFO	3	EFO	neoplasm	Familial hyperaldosteronism type II
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	1159944	\N	\N	EFO	3	EFO	endocrine system disease	Familial hyperaldosteronism type II
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	1159945	\N	\N	EFO	3	EFO	genetic disorder	Familial hyperaldosteronism type II
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	1159946	\N	\N	EFO	3	EFO	neoplasm	Familial hyperaldosteronism type II
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	2043332	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Familial hyperaldosteronism type II
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	2043333	\N	\N	EFO	4	EFO	disease	Familial hyperaldosteronism type II
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	4399863	\N	\N	EFO	6	EFO	disease	Familial hyperaldosteronism type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	4399862	\N	\N	EFO	6	EFO	disease	Familial hyperaldosteronism type II
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	3193574	\N	\N	EFO	5	EFO	genetic disorder	Familial hyperaldosteronism type II
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	3193575	\N	\N	EFO	5	EFO	endocrine system disease	Familial hyperaldosteronism type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	5060106	\N	\N	EFO	7	EFO	disposition	Familial hyperaldosteronism type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	5877522	\N	\N	EFO	8	EFO	material property	Familial hyperaldosteronism type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404	"Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." []	6470761	\N	\N	EFO	9	EFO	experimental factor	Familial hyperaldosteronism type II
Orphanet:404437	\N	\N	"" []	Orphanet:404437	"" []	77301	\N	\N	EFO	0	EFO	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Orphanet:166478	Orphanet:404437	\N	"" []	Orphanet:404437	"" []	220921	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Orphanet:269528	Orphanet:404437	\N	"" []	Orphanet:404437	"" []	220922	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:404437	"" []	576738	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:404437	"" []	576739	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:404437	"" []	1159947	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:404437	"" []	1159948	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404437	"" []	3193579	\N	\N	EFO	5	EFO	genetic disorder	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:404437	"" []	2043337	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:404437	"" []	2043338	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404437	"" []	4134081	\N	\N	EFO	6	EFO	disease	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404437	"" []	3193578	\N	\N	EFO	5	EFO	genetic disorder	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404437	"" []	5182978	\N	\N	EFO	7	EFO	disposition	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404437	"" []	5998344	\N	\N	EFO	8	EFO	material property	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404437	"" []	6551544	\N	\N	EFO	9	EFO	experimental factor	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Orphanet:404440	\N	\N	"" []	Orphanet:404440	"" []	77302	\N	\N	EFO	0	EFO	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Orphanet:102283	Orphanet:404440	\N	"" []	Orphanet:404440	"" []	220923	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Orphanet:183763	Orphanet:404440	\N	"" []	Orphanet:404440	"" []	220924	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:404440	"" []	576740	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:404440	"" []	576741	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:404440	"" []	1159949	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:404440	"" []	1159950	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404440	"" []	2043339	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404440	"" []	2043340	\N	\N	EFO	4	EFO	genetic disorder	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404440	"" []	3193580	\N	\N	EFO	5	EFO	disease	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404440	"" []	4399866	\N	\N	EFO	6	EFO	disposition	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404440	"" []	5416710	\N	\N	EFO	7	EFO	material property	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404440	"" []	6152099	\N	\N	EFO	8	EFO	experimental factor	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Orphanet:404443	\N	\N	"" []	Orphanet:404443	"" []	77303	\N	\N	EFO	0	EFO	Tall stature-intellectual disability-facial dysmorphism syndrome	Tall stature-intellectual disability-facial dysmorphism syndrome
Orphanet:102283	Orphanet:404443	\N	"" []	Orphanet:404443	"" []	220925	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Tall stature-intellectual disability-facial dysmorphism syndrome
Orphanet:183763	Orphanet:404443	\N	"" []	Orphanet:404443	"" []	220926	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Tall stature-intellectual disability-facial dysmorphism syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:404443	"" []	576742	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Tall stature-intellectual disability-facial dysmorphism syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:404443	"" []	576743	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Tall stature-intellectual disability-facial dysmorphism syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:404443	"" []	1159951	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Tall stature-intellectual disability-facial dysmorphism syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:404443	"" []	1159952	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Tall stature-intellectual disability-facial dysmorphism syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404443	"" []	2043341	\N	\N	EFO	4	EFO	genetic disorder	Tall stature-intellectual disability-facial dysmorphism syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404443	"" []	2043342	\N	\N	EFO	4	EFO	genetic disorder	Tall stature-intellectual disability-facial dysmorphism syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404443	"" []	3193581	\N	\N	EFO	5	EFO	disease	Tall stature-intellectual disability-facial dysmorphism syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404443	"" []	4399867	\N	\N	EFO	6	EFO	disposition	Tall stature-intellectual disability-facial dysmorphism syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404443	"" []	5416711	\N	\N	EFO	7	EFO	material property	Tall stature-intellectual disability-facial dysmorphism syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404443	"" []	6152100	\N	\N	EFO	8	EFO	experimental factor	Tall stature-intellectual disability-facial dysmorphism syndrome
Orphanet:404448	\N	\N	"" []	Orphanet:404448	"" []	77304	\N	\N	EFO	0	EFO	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Orphanet:102283	Orphanet:404448	\N	"" []	Orphanet:404448	"" []	220927	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Orphanet:183763	Orphanet:404448	\N	"" []	Orphanet:404448	"" []	220928	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:404448	"" []	576744	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:404448	"" []	576745	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:404448	"" []	1159953	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:404448	"" []	1159954	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404448	"" []	2043343	\N	\N	EFO	4	EFO	genetic disorder	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404448	"" []	2043344	\N	\N	EFO	4	EFO	genetic disorder	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404448	"" []	3193582	\N	\N	EFO	5	EFO	disease	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404448	"" []	4399868	\N	\N	EFO	6	EFO	disposition	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404448	"" []	5416712	\N	\N	EFO	7	EFO	material property	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404448	"" []	6152101	\N	\N	EFO	8	EFO	experimental factor	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Orphanet:404451	\N	\N	"" []	Orphanet:404451	"" []	77305	\N	\N	EFO	0	EFO	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Orphanet:102283	Orphanet:404451	\N	"" []	Orphanet:404451	"" []	220929	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Orphanet:183763	Orphanet:404451	\N	"" []	Orphanet:404451	"" []	220930	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:404451	"" []	576746	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:404451	"" []	576747	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:404451	"" []	1159955	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:404451	"" []	1159956	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404451	"" []	2043345	\N	\N	EFO	4	EFO	genetic disorder	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404451	"" []	2043346	\N	\N	EFO	4	EFO	genetic disorder	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404451	"" []	3193583	\N	\N	EFO	5	EFO	disease	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404451	"" []	4399869	\N	\N	EFO	6	EFO	disposition	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404451	"" []	5416713	\N	\N	EFO	7	EFO	material property	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404451	"" []	6152102	\N	\N	EFO	8	EFO	experimental factor	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Orphanet:404454	\N	\N	"" []	Orphanet:404454	"" []	77306	\N	\N	EFO	0	EFO	Alacrimia-choreoathetosis-liver dysfunction syndrome	Alacrimia-choreoathetosis-liver dysfunction syndrome
Orphanet:183763	Orphanet:404454	\N	"" []	Orphanet:404454	"" []	220931	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Alacrimia-choreoathetosis-liver dysfunction syndrome
Orphanet:91088	Orphanet:404454	\N	"" []	Orphanet:404454	"" []	220932	\N	\N	EFO	1	EFO	Other metabolic disease	Alacrimia-choreoathetosis-liver dysfunction syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:404454	"" []	576748	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Alacrimia-choreoathetosis-liver dysfunction syndrome
Orphanet:68367	Orphanet:91088	\N	"" []	Orphanet:404454	"" []	576749	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Alacrimia-choreoathetosis-liver dysfunction syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:404454	"" []	1159957	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alacrimia-choreoathetosis-liver dysfunction syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404454	"" []	1159958	\N	\N	EFO	3	EFO	genetic disorder	Alacrimia-choreoathetosis-liver dysfunction syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:404454	"" []	1159959	\N	\N	EFO	3	EFO	metabolic disease	Alacrimia-choreoathetosis-liver dysfunction syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404454	"" []	2043347	\N	\N	EFO	4	EFO	genetic disorder	Alacrimia-choreoathetosis-liver dysfunction syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404454	"" []	3193584	\N	\N	EFO	5	EFO	disease	Alacrimia-choreoathetosis-liver dysfunction syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404454	"" []	2043349	\N	\N	EFO	4	EFO	disease	Alacrimia-choreoathetosis-liver dysfunction syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404454	"" []	4134082	\N	\N	EFO	6	EFO	disposition	Alacrimia-choreoathetosis-liver dysfunction syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404454	"" []	5182979	\N	\N	EFO	7	EFO	material property	Alacrimia-choreoathetosis-liver dysfunction syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404454	"" []	5998345	\N	\N	EFO	8	EFO	experimental factor	Alacrimia-choreoathetosis-liver dysfunction syndrome
Orphanet:404463	\N	\N	"" []	Orphanet:404463	"" []	77307	\N	\N	EFO	0	EFO	Multisystemic smooth muscle dysfunction syndrome	Multisystemic smooth muscle dysfunction syndrome
EFO:0002970	Orphanet:404463	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:404463	"" []	220933	\N	\N	EFO	1	EFO	muscular disease	Multisystemic smooth muscle dysfunction syndrome
Orphanet:104009	Orphanet:404463	\N	"" []	Orphanet:404463	"" []	220934	\N	\N	EFO	1	EFO	Congenital intestinal motility disorder	Multisystemic smooth muscle dysfunction syndrome
Orphanet:156619	Orphanet:404463	\N	"" []	Orphanet:404463	"" []	220935	\N	\N	EFO	1	EFO	Rare genetic urogenital disease	Multisystemic smooth muscle dysfunction syndrome
Orphanet:183503	Orphanet:404463	\N	"" []	Orphanet:404463	"" []	220936	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Multisystemic smooth muscle dysfunction syndrome
Orphanet:285014	Orphanet:404463	\N	"" []	Orphanet:404463	"" []	220937	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Multisystemic smooth muscle dysfunction syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:404463	"" []	576750	\N	\N	EFO	2	EFO	skeletal system disease	Multisystemic smooth muscle dysfunction syndrome
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:404463	"" []	576751	\N	\N	EFO	2	EFO	Genetic intestinal disease	Multisystemic smooth muscle dysfunction syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404463	"" []	576752	\N	\N	EFO	2	EFO	genetic disorder	Multisystemic smooth muscle dysfunction syndrome
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:404463	"" []	576753	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Multisystemic smooth muscle dysfunction syndrome
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:404463	"" []	576754	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Multisystemic smooth muscle dysfunction syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404463	"" []	1159960	\N	\N	EFO	3	EFO	disease	Multisystemic smooth muscle dysfunction syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:404463	"" []	1159961	\N	\N	EFO	3	EFO	digestive system disease	Multisystemic smooth muscle dysfunction syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:404463	"" []	1159962	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Multisystemic smooth muscle dysfunction syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404463	"" []	3193587	\N	\N	EFO	5	EFO	disease	Multisystemic smooth muscle dysfunction syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404463	"" []	1159964	\N	\N	EFO	3	EFO	genetic disorder	Multisystemic smooth muscle dysfunction syndrome
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404463	"" []	1159965	\N	\N	EFO	3	EFO	genetic disorder	Multisystemic smooth muscle dysfunction syndrome
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:404463	"" []	1159966	\N	\N	EFO	3	EFO	vascular disease	Multisystemic smooth muscle dysfunction syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404463	"" []	4066952	\N	\N	EFO	6	EFO	disposition	Multisystemic smooth muscle dysfunction syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404463	"" []	2043351	\N	\N	EFO	4	EFO	disease	Multisystemic smooth muscle dysfunction syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404463	"" []	2043352	\N	\N	EFO	4	EFO	genetic disorder	Multisystemic smooth muscle dysfunction syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:404463	"" []	2043354	\N	\N	EFO	4	EFO	cardiovascular disease	Multisystemic smooth muscle dysfunction syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404463	"" []	5060107	\N	\N	EFO	7	EFO	material property	Multisystemic smooth muscle dysfunction syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404463	"" []	3193588	\N	\N	EFO	5	EFO	disease	Multisystemic smooth muscle dysfunction syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404463	"" []	5877523	\N	\N	EFO	8	EFO	experimental factor	Multisystemic smooth muscle dysfunction syndrome
Orphanet:404466	\N	\N	"" []	Orphanet:404466	"" []	77308	\N	\N	EFO	0	EFO	Female infertility due to zona pellucida defect	Female infertility due to zona pellucida defect
Orphanet:404469	Orphanet:404466	\N	"" []	Orphanet:404466	"" []	220938	\N	\N	EFO	1	EFO	Female infertility due to fertilization defect	Female infertility due to zona pellucida defect
Orphanet:400008	Orphanet:404469	\N	"" []	Orphanet:404466	"" []	576755	\N	\N	EFO	2	EFO	Rare genetic female infertility	Female infertility due to zona pellucida defect
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:404466	"" []	1159967	\N	\N	EFO	3	EFO	Genetic infertility	Female infertility due to zona pellucida defect
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404466	"" []	2043355	\N	\N	EFO	4	EFO	genetic disorder	Female infertility due to zona pellucida defect
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:404466	"" []	2043356	\N	\N	EFO	4	EFO	reproductive system disease	Female infertility due to zona pellucida defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404466	"" []	3193589	\N	\N	EFO	5	EFO	disease	Female infertility due to zona pellucida defect
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404466	"" []	3193590	\N	\N	EFO	5	EFO	disease	Female infertility due to zona pellucida defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404466	"" []	4399872	\N	\N	EFO	6	EFO	disposition	Female infertility due to zona pellucida defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404466	"" []	5416715	\N	\N	EFO	7	EFO	material property	Female infertility due to zona pellucida defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404466	"" []	6152103	\N	\N	EFO	8	EFO	experimental factor	Female infertility due to zona pellucida defect
Orphanet:404469	\N	\N	"" []	Orphanet:404469	"" []	77309	\N	\N	EFO	0	EFO	Female infertility due to fertilization defect	Female infertility due to fertilization defect
Orphanet:400008	Orphanet:404469	\N	"" []	Orphanet:404469	"" []	220939	\N	\N	EFO	1	EFO	Rare genetic female infertility	Female infertility due to fertilization defect
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:404469	"" []	576756	\N	\N	EFO	2	EFO	Genetic infertility	Female infertility due to fertilization defect
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404469	"" []	1159968	\N	\N	EFO	3	EFO	genetic disorder	Female infertility due to fertilization defect
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:404469	"" []	1159969	\N	\N	EFO	3	EFO	reproductive system disease	Female infertility due to fertilization defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404469	"" []	2043357	\N	\N	EFO	4	EFO	disease	Female infertility due to fertilization defect
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404469	"" []	2043358	\N	\N	EFO	4	EFO	disease	Female infertility due to fertilization defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404469	"" []	3193591	\N	\N	EFO	5	EFO	disposition	Female infertility due to fertilization defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404469	"" []	4399873	\N	\N	EFO	6	EFO	material property	Female infertility due to fertilization defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404469	"" []	5416716	\N	\N	EFO	7	EFO	experimental factor	Female infertility due to fertilization defect
Orphanet:404473	\N	\N	"" []	Orphanet:404473	"" []	77310	\N	\N	EFO	0	EFO	Severe intellectual disability-progressive spastic diplegia syndrome	Severe intellectual disability-progressive spastic diplegia syndrome
Orphanet:102283	Orphanet:404473	\N	"" []	Orphanet:404473	"" []	220940	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Severe intellectual disability-progressive spastic diplegia syndrome
Orphanet:183763	Orphanet:404473	\N	"" []	Orphanet:404473	"" []	220941	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Severe intellectual disability-progressive spastic diplegia syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:404473	"" []	576757	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Severe intellectual disability-progressive spastic diplegia syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:404473	"" []	576758	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Severe intellectual disability-progressive spastic diplegia syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:404473	"" []	1159970	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Severe intellectual disability-progressive spastic diplegia syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:404473	"" []	1159971	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Severe intellectual disability-progressive spastic diplegia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404473	"" []	2043359	\N	\N	EFO	4	EFO	genetic disorder	Severe intellectual disability-progressive spastic diplegia syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404473	"" []	2043360	\N	\N	EFO	4	EFO	genetic disorder	Severe intellectual disability-progressive spastic diplegia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404473	"" []	3193592	\N	\N	EFO	5	EFO	disease	Severe intellectual disability-progressive spastic diplegia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404473	"" []	4399874	\N	\N	EFO	6	EFO	disposition	Severe intellectual disability-progressive spastic diplegia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404473	"" []	5416717	\N	\N	EFO	7	EFO	material property	Severe intellectual disability-progressive spastic diplegia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404473	"" []	6152104	\N	\N	EFO	8	EFO	experimental factor	Severe intellectual disability-progressive spastic diplegia syndrome
Orphanet:404476	\N	\N	"" []	Orphanet:404476	"" []	77311	\N	\N	EFO	0	EFO	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Orphanet:183595	Orphanet:404476	\N	"" []	Orphanet:404476	"" []	220942	\N	\N	EFO	1	EFO	Genetic renal tumor	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Orphanet:93460	Orphanet:404476	\N	"" []	Orphanet:404476	"" []	220943	\N	\N	EFO	1	EFO	Overgrowth syndrome	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:404476	"" []	576759	\N	\N	EFO	2	EFO	urogenital neoplasm	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:404476	"" []	576760	\N	\N	EFO	2	EFO	Rare genetic tumor	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:404476	"" []	576761	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:404476	"" []	1159972	\N	\N	EFO	3	EFO	neoplasm	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404476	"" []	1159973	\N	\N	EFO	3	EFO	genetic disorder	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:404476	"" []	1159974	\N	\N	EFO	3	EFO	neoplasm	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:404476	"" []	1159975	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404476	"" []	2043361	\N	\N	EFO	4	EFO	disease	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404476	"" []	3193594	\N	\N	EFO	5	EFO	disease	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404476	"" []	2043363	\N	\N	EFO	4	EFO	genetic disorder	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404476	"" []	4134084	\N	\N	EFO	6	EFO	disposition	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404476	"" []	5182981	\N	\N	EFO	7	EFO	material property	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404476	"" []	5998346	\N	\N	EFO	8	EFO	experimental factor	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Orphanet:404481	\N	\N	"" []	Orphanet:404481	"" []	77312	\N	\N	EFO	0	EFO	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:1172	Orphanet:404481	\N	"" []	Orphanet:404481	"" []	220944	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:166472	Orphanet:404481	\N	"" []	Orphanet:404481	"" []	220945	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:183763	Orphanet:404481	\N	"" []	Orphanet:404481	"" []	220946	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:404481	"" []	576762	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:404481	"" []	576763	\N	\N	EFO	2	EFO	Early-onset ataxia with dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:404481	"" []	576764	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:404481	"" []	576765	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:404481	"" []	576766	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:404481	"" []	1159976	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:404481	"" []	1159977	\N	\N	EFO	3	EFO	Ataxia with dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:404481	"" []	1159978	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:404481	"" []	1159979	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:404481	"" []	1159980	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404481	"" []	5416721	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:404481	"" []	2043365	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:404481	"" []	2043366	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404481	"" []	5817758	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:404481	"" []	3193596	\N	\N	EFO	5	EFO	Genetic dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:404481	"" []	3193597	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:404481	"" []	3193598	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404481	"" []	6410236	\N	\N	EFO	9	EFO	disposition	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:404481	"" []	4399877	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:404481	"" []	4399878	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:404481	"" []	4399879	\N	\N	EFO	6	EFO	neurodegenerative disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:404481	"" []	4399880	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:404481	"" []	4399881	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404481	"" []	4399882	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:404481	"" []	4399883	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404481	"" []	6808072	\N	\N	EFO	10	EFO	material property	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:404481	"" []	5416720	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:404481	"" []	5416722	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404481	"" []	5416724	\N	\N	EFO	7	EFO	disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404481	"" []	7048763	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404481	"" []	6152106	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Orphanet:404493	\N	\N	"" []	Orphanet:404493	"" []	77313	\N	\N	EFO	0	EFO	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:404481	Orphanet:404493	\N	"" []	Orphanet:404493	"" []	220947	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:1172	Orphanet:404481	\N	"" []	Orphanet:404493	"" []	576767	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:166472	Orphanet:404481	\N	"" []	Orphanet:404493	"" []	576768	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:183763	Orphanet:404481	\N	"" []	Orphanet:404493	"" []	576769	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:404493	"" []	1159981	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:404493	"" []	1159982	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:404493	"" []	1159983	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:404493	"" []	1159984	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:404493	"" []	1159985	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:404493	"" []	2043367	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:404493	"" []	2043368	\N	\N	EFO	4	EFO	Ataxia with dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:404493	"" []	2043369	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:404493	"" []	2043370	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:404493	"" []	2043371	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404493	"" []	6152109	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:404493	"" []	3193600	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:404493	"" []	3193601	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404493	"" []	6410237	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:404493	"" []	4399885	\N	\N	EFO	6	EFO	Genetic dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:404493	"" []	4399886	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:404493	"" []	4399887	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404493	"" []	6808073	\N	\N	EFO	10	EFO	disposition	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:404493	"" []	5416726	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:404493	"" []	5416727	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:404493	"" []	5416728	\N	\N	EFO	7	EFO	neurodegenerative disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:404493	"" []	5416729	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:404493	"" []	5416730	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404493	"" []	5416731	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:404493	"" []	5416732	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404493	"" []	7048764	\N	\N	EFO	11	EFO	material property	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:404493	"" []	6152108	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:404493	"" []	6152110	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404493	"" []	6152112	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404493	"" []	7190251	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404493	"" []	6633930	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Orphanet:404499	\N	\N	"" []	Orphanet:404499	"" []	77314	\N	\N	EFO	0	EFO	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:404481	Orphanet:404499	\N	"" []	Orphanet:404499	"" []	220948	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:1172	Orphanet:404481	\N	"" []	Orphanet:404499	"" []	576770	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:166472	Orphanet:404481	\N	"" []	Orphanet:404499	"" []	576771	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:183763	Orphanet:404481	\N	"" []	Orphanet:404499	"" []	576772	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:404499	"" []	1159986	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:404499	"" []	1159987	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:404499	"" []	1159988	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:404499	"" []	1159989	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:404499	"" []	1159990	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:404499	"" []	2043372	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:404499	"" []	2043373	\N	\N	EFO	4	EFO	Ataxia with dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:404499	"" []	2043374	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:404499	"" []	2043375	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:404499	"" []	2043376	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404499	"" []	6152115	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:404499	"" []	3193603	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:404499	"" []	3193604	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404499	"" []	6410238	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:404499	"" []	4399889	\N	\N	EFO	6	EFO	Genetic dementia	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:404499	"" []	4399890	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:404499	"" []	4399891	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404499	"" []	6808074	\N	\N	EFO	10	EFO	disposition	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:404499	"" []	5416734	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:404499	"" []	5416735	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:404499	"" []	5416736	\N	\N	EFO	7	EFO	neurodegenerative disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:404499	"" []	5416737	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:404499	"" []	5416738	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404499	"" []	5416739	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:404499	"" []	5416740	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404499	"" []	7048765	\N	\N	EFO	11	EFO	material property	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:404499	"" []	6152114	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:404499	"" []	6152116	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404499	"" []	6152118	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404499	"" []	7190252	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404499	"" []	6633932	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Orphanet:404521	\N	\N	"" []	Orphanet:404521	"" []	77315	\N	\N	EFO	0	EFO	Spinal muscular atrophy with respiratory distress type 2	Spinal muscular atrophy with respiratory distress type 2
Orphanet:404538	Orphanet:404521	\N	"" []	Orphanet:404521	"" []	220949	\N	\N	EFO	1	EFO	X-linked distal hereditary motor neuropathy	Spinal muscular atrophy with respiratory distress type 2
Orphanet:206713	Orphanet:404538	\N	"" []	Orphanet:404521	"" []	576773	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	Spinal muscular atrophy with respiratory distress type 2
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:404521	"" []	1159991	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Spinal muscular atrophy with respiratory distress type 2
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:404521	"" []	2043377	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Spinal muscular atrophy with respiratory distress type 2
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:404521	"" []	3193605	\N	\N	EFO	5	EFO	muscular disease	Spinal muscular atrophy with respiratory distress type 2
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:404521	"" []	3193606	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spinal muscular atrophy with respiratory distress type 2
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:404521	"" []	4399892	\N	\N	EFO	6	EFO	skeletal system disease	Spinal muscular atrophy with respiratory distress type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404521	"" []	4399893	\N	\N	EFO	6	EFO	genetic disorder	Spinal muscular atrophy with respiratory distress type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404521	"" []	5416741	\N	\N	EFO	7	EFO	disease	Spinal muscular atrophy with respiratory distress type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404521	"" []	5416742	\N	\N	EFO	7	EFO	disease	Spinal muscular atrophy with respiratory distress type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404521	"" []	6152119	\N	\N	EFO	8	EFO	disposition	Spinal muscular atrophy with respiratory distress type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404521	"" []	6633933	\N	\N	EFO	9	EFO	material property	Spinal muscular atrophy with respiratory distress type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404521	"" []	6926188	\N	\N	EFO	10	EFO	experimental factor	Spinal muscular atrophy with respiratory distress type 2
Orphanet:404538	\N	\N	"" []	Orphanet:404538	"" []	77316	\N	\N	EFO	0	EFO	X-linked distal hereditary motor neuropathy	X-linked distal hereditary motor neuropathy
Orphanet:206713	Orphanet:404538	\N	"" []	Orphanet:404538	"" []	220950	\N	\N	EFO	1	EFO	Distal spinal muscular atrophy	X-linked distal hereditary motor neuropathy
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:404538	"" []	576774	\N	\N	EFO	2	EFO	Genetic motor neuron disease	X-linked distal hereditary motor neuropathy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:404538	"" []	1159992	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	X-linked distal hereditary motor neuropathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:404538	"" []	2043378	\N	\N	EFO	4	EFO	muscular disease	X-linked distal hereditary motor neuropathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:404538	"" []	2043379	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked distal hereditary motor neuropathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:404538	"" []	3193607	\N	\N	EFO	5	EFO	skeletal system disease	X-linked distal hereditary motor neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404538	"" []	3193608	\N	\N	EFO	5	EFO	genetic disorder	X-linked distal hereditary motor neuropathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404538	"" []	4399894	\N	\N	EFO	6	EFO	disease	X-linked distal hereditary motor neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404538	"" []	4399895	\N	\N	EFO	6	EFO	disease	X-linked distal hereditary motor neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404538	"" []	5416743	\N	\N	EFO	7	EFO	disposition	X-linked distal hereditary motor neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404538	"" []	6152120	\N	\N	EFO	8	EFO	material property	X-linked distal hereditary motor neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404538	"" []	6633934	\N	\N	EFO	9	EFO	experimental factor	X-linked distal hereditary motor neuropathy
Orphanet:404560	\N	\N	"" []	Orphanet:404560	"" []	77317	\N	\N	EFO	0	EFO	Familial atypical multiple mole melanoma syndrome	Familial atypical multiple mole melanoma syndrome
Orphanet:183487	Orphanet:404560	\N	"" []	Orphanet:404560	"" []	220951	\N	\N	EFO	1	EFO	Genetic skin tumor	Familial atypical multiple mole melanoma syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:404560	"" []	576775	\N	\N	EFO	2	EFO	skin neoplasm	Familial atypical multiple mole melanoma syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:404560	"" []	576776	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial atypical multiple mole melanoma syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:404560	"" []	1159993	\N	\N	EFO	3	EFO	neoplasm	Familial atypical multiple mole melanoma syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:404560	"" []	1159994	\N	\N	EFO	3	EFO	skin disease	Familial atypical multiple mole melanoma syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404560	"" []	1159995	\N	\N	EFO	3	EFO	genetic disorder	Familial atypical multiple mole melanoma syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:404560	"" []	1159996	\N	\N	EFO	3	EFO	neoplasm	Familial atypical multiple mole melanoma syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404560	"" []	2043380	\N	\N	EFO	4	EFO	disease	Familial atypical multiple mole melanoma syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404560	"" []	2043381	\N	\N	EFO	4	EFO	disease	Familial atypical multiple mole melanoma syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404560	"" []	2043382	\N	\N	EFO	4	EFO	disease	Familial atypical multiple mole melanoma syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404560	"" []	3193609	\N	\N	EFO	5	EFO	disposition	Familial atypical multiple mole melanoma syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404560	"" []	4399896	\N	\N	EFO	6	EFO	material property	Familial atypical multiple mole melanoma syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404560	"" []	5416744	\N	\N	EFO	7	EFO	experimental factor	Familial atypical multiple mole melanoma syndrome
Orphanet:404568	\N	\N	"" []	Orphanet:404568	"" []	77318	\N	\N	EFO	0	EFO	Dysostosis of genetic origin	Dysostosis of genetic origin
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:404568	"" []	220952	\N	\N	EFO	1	EFO	Rare genetic bone disease	Dysostosis of genetic origin
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:404568	"" []	220953	\N	\N	EFO	1	EFO	Rare genetic bone development disorder	Dysostosis of genetic origin
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404568	"" []	576777	\N	\N	EFO	2	EFO	genetic disorder	Dysostosis of genetic origin
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:404568	"" []	576778	\N	\N	EFO	2	EFO	bone disease	Dysostosis of genetic origin
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:404568	"" []	576779	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Dysostosis of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404568	"" []	2043385	\N	\N	EFO	4	EFO	disease	Dysostosis of genetic origin
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:404568	"" []	1159998	\N	\N	EFO	3	EFO	skeletal system disease	Dysostosis of genetic origin
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404568	"" []	1159999	\N	\N	EFO	3	EFO	genetic disorder	Dysostosis of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404568	"" []	3000363	\N	\N	EFO	5	EFO	disposition	Dysostosis of genetic origin
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404568	"" []	2043384	\N	\N	EFO	4	EFO	disease	Dysostosis of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404568	"" []	4134085	\N	\N	EFO	6	EFO	material property	Dysostosis of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404568	"" []	5182982	\N	\N	EFO	7	EFO	experimental factor	Dysostosis of genetic origin
Orphanet:404571	\N	\N	"" []	Orphanet:404571	"" []	77319	\N	\N	EFO	0	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Dysostosis of genetic origin with limb anomaly as a major feature
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:404571	"" []	220954	\N	\N	EFO	1	EFO	Dysostosis of genetic origin	Dysostosis of genetic origin with limb anomaly as a major feature
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:404571	"" []	576780	\N	\N	EFO	2	EFO	Rare genetic bone disease	Dysostosis of genetic origin with limb anomaly as a major feature
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:404571	"" []	576781	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Dysostosis of genetic origin with limb anomaly as a major feature
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404571	"" []	1160000	\N	\N	EFO	3	EFO	genetic disorder	Dysostosis of genetic origin with limb anomaly as a major feature
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:404571	"" []	1160001	\N	\N	EFO	3	EFO	bone disease	Dysostosis of genetic origin with limb anomaly as a major feature
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:404571	"" []	1160002	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dysostosis of genetic origin with limb anomaly as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404571	"" []	3193613	\N	\N	EFO	5	EFO	disease	Dysostosis of genetic origin with limb anomaly as a major feature
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:404571	"" []	2043387	\N	\N	EFO	4	EFO	skeletal system disease	Dysostosis of genetic origin with limb anomaly as a major feature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404571	"" []	2043388	\N	\N	EFO	4	EFO	genetic disorder	Dysostosis of genetic origin with limb anomaly as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404571	"" []	4134086	\N	\N	EFO	6	EFO	disposition	Dysostosis of genetic origin with limb anomaly as a major feature
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404571	"" []	3193612	\N	\N	EFO	5	EFO	disease	Dysostosis of genetic origin with limb anomaly as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404571	"" []	5182983	\N	\N	EFO	7	EFO	material property	Dysostosis of genetic origin with limb anomaly as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404571	"" []	5998347	\N	\N	EFO	8	EFO	experimental factor	Dysostosis of genetic origin with limb anomaly as a major feature
Orphanet:404574	\N	\N	"" []	Orphanet:404574	"" []	77320	\N	\N	EFO	0	EFO	Genetic syndrome with limb reduction defects	Genetic syndrome with limb reduction defects
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:404574	"" []	220955	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Genetic syndrome with limb reduction defects
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:404574	"" []	220956	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Genetic syndrome with limb reduction defects
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:404574	"" []	576782	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Genetic syndrome with limb reduction defects
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:404574	"" []	576783	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Genetic syndrome with limb reduction defects
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:404574	"" []	1160003	\N	\N	EFO	3	EFO	Rare genetic bone disease	Genetic syndrome with limb reduction defects
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:404574	"" []	1160004	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Genetic syndrome with limb reduction defects
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:404574	"" []	1160005	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Genetic syndrome with limb reduction defects
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404574	"" []	2043389	\N	\N	EFO	4	EFO	genetic disorder	Genetic syndrome with limb reduction defects
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:404574	"" []	2043390	\N	\N	EFO	4	EFO	bone disease	Genetic syndrome with limb reduction defects
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:404574	"" []	2043391	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Genetic syndrome with limb reduction defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404574	"" []	3193616	\N	\N	EFO	5	EFO	genetic disorder	Genetic syndrome with limb reduction defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404574	"" []	4134087	\N	\N	EFO	6	EFO	disease	Genetic syndrome with limb reduction defects
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:404574	"" []	3193615	\N	\N	EFO	5	EFO	skeletal system disease	Genetic syndrome with limb reduction defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404574	"" []	5182984	\N	\N	EFO	7	EFO	disposition	Genetic syndrome with limb reduction defects
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404574	"" []	4399900	\N	\N	EFO	6	EFO	disease	Genetic syndrome with limb reduction defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404574	"" []	5998348	\N	\N	EFO	8	EFO	material property	Genetic syndrome with limb reduction defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404574	"" []	6551545	\N	\N	EFO	9	EFO	experimental factor	Genetic syndrome with limb reduction defects
Orphanet:404577	\N	\N	"" []	Orphanet:404577	"" []	77321	\N	\N	EFO	0	EFO	Genetic syndrome with limb malformations as a major feature	Genetic syndrome with limb malformations as a major feature
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:404577	"" []	220957	\N	\N	EFO	1	EFO	Genetic congenital limb malformation	Genetic syndrome with limb malformations as a major feature
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:404577	"" []	576784	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Genetic syndrome with limb malformations as a major feature
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404577	"" []	1160006	\N	\N	EFO	3	EFO	genetic disorder	Genetic syndrome with limb malformations as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404577	"" []	2043393	\N	\N	EFO	4	EFO	disease	Genetic syndrome with limb malformations as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404577	"" []	3193617	\N	\N	EFO	5	EFO	disposition	Genetic syndrome with limb malformations as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404577	"" []	4399901	\N	\N	EFO	6	EFO	material property	Genetic syndrome with limb malformations as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404577	"" []	5416747	\N	\N	EFO	7	EFO	experimental factor	Genetic syndrome with limb malformations as a major feature
Orphanet:404584	\N	\N	"" []	Orphanet:404584	"" []	77322	\N	\N	EFO	0	EFO	Rare genetic bone development disorder	Rare genetic bone development disorder
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:404584	"" []	220958	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Rare genetic bone development disorder
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:404584	"" []	576785	\N	\N	EFO	2	EFO	genetic disorder	Rare genetic bone development disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:404584	"" []	1160007	\N	\N	EFO	3	EFO	disease	Rare genetic bone development disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:404584	"" []	2043394	\N	\N	EFO	4	EFO	disposition	Rare genetic bone development disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:404584	"" []	3193618	\N	\N	EFO	5	EFO	material property	Rare genetic bone development disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:404584	"" []	4399902	\N	\N	EFO	6	EFO	experimental factor	Rare genetic bone development disorder
Orphanet:405	\N	\N	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	77323	\N	\N	EFO	0	EFO	Familial hypocalciuric hypercalcemia	Familial hypocalciuric hypercalcemia
EFO:0005769	Orphanet:405	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	220959	\N	\N	EFO	1	EFO	calcium metabolic disease	Familial hypocalciuric hypercalcemia
Orphanet:183634	Orphanet:405	\N	"" []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	220960	\N	\N	EFO	1	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Familial hypocalciuric hypercalcemia
Orphanet:93447	Orphanet:405	\N	"" []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	220961	\N	\N	EFO	1	EFO	Primary bone dysplasia with defective bone mineralization	Familial hypocalciuric hypercalcemia
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	576786	\N	\N	EFO	2	EFO	metabolic disease	Familial hypocalciuric hypercalcemia
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	576787	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Familial hypocalciuric hypercalcemia
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	576788	\N	\N	EFO	2	EFO	Primary bone dysplasia	Familial hypocalciuric hypercalcemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	1160008	\N	\N	EFO	3	EFO	disease	Familial hypocalciuric hypercalcemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	1160009	\N	\N	EFO	3	EFO	genetic disorder	Familial hypocalciuric hypercalcemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	1160010	\N	\N	EFO	3	EFO	endocrine system disease	Familial hypocalciuric hypercalcemia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	1160011	\N	\N	EFO	3	EFO	Rare genetic bone disease	Familial hypocalciuric hypercalcemia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	1160012	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Familial hypocalciuric hypercalcemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	5060109	\N	\N	EFO	7	EFO	disposition	Familial hypocalciuric hypercalcemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	4399905	\N	\N	EFO	6	EFO	disease	Familial hypocalciuric hypercalcemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	2043397	\N	\N	EFO	4	EFO	disease	Familial hypocalciuric hypercalcemia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	2043398	\N	\N	EFO	4	EFO	genetic disorder	Familial hypocalciuric hypercalcemia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	2043399	\N	\N	EFO	4	EFO	bone disease	Familial hypocalciuric hypercalcemia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	2043400	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial hypocalciuric hypercalcemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	5817759	\N	\N	EFO	8	EFO	material property	Familial hypocalciuric hypercalcemia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	3193622	\N	\N	EFO	5	EFO	skeletal system disease	Familial hypocalciuric hypercalcemia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	3193623	\N	\N	EFO	5	EFO	genetic disorder	Familial hypocalciuric hypercalcemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	6410239	\N	\N	EFO	9	EFO	experimental factor	Familial hypocalciuric hypercalcemia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:405	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	4399904	\N	\N	EFO	6	EFO	disease	Familial hypocalciuric hypercalcemia
Orphanet:407	\N	\N	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	77324	\N	\N	EFO	0	EFO	Glycine encephalopathy	Glycine encephalopathy
Orphanet:68385	Orphanet:407	\N	"" []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	220962	\N	\N	EFO	1	EFO	Neurometabolic disease	Glycine encephalopathy
Orphanet:79194	Orphanet:407	\N	"" []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	220963	\N	\N	EFO	1	EFO	Disorder of serine or glycine metabolism	Glycine encephalopathy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	576789	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Glycine encephalopathy
Orphanet:79062	Orphanet:79194	\N	"" []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	576790	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Glycine encephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	1160013	\N	\N	EFO	3	EFO	genetic disorder	Glycine encephalopathy
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	1160014	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycine encephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	3193625	\N	\N	EFO	5	EFO	disease	Glycine encephalopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	2043402	\N	\N	EFO	4	EFO	genetic disorder	Glycine encephalopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	2043403	\N	\N	EFO	4	EFO	metabolic disease	Glycine encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	4134090	\N	\N	EFO	6	EFO	disposition	Glycine encephalopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	3193626	\N	\N	EFO	5	EFO	disease	Glycine encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	5182986	\N	\N	EFO	7	EFO	material property	Glycine encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:407	"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." []	5998349	\N	\N	EFO	8	EFO	experimental factor	Glycine encephalopathy
Orphanet:408	\N	\N	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	Orphanet:408	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	77325	\N	\N	EFO	0	EFO	Isolated glycerol kinase deficiency	Isolated glycerol kinase deficiency
Orphanet:308993	Orphanet:408	\N	"" []	Orphanet:408	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	220964	\N	\N	EFO	1	EFO	Glycerol kinase deficiency	Isolated glycerol kinase deficiency
Orphanet:79179	Orphanet:308993	\N	"" []	Orphanet:408	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	576791	\N	\N	EFO	2	EFO	Disorder of glycerol metabolism	Isolated glycerol kinase deficiency
Orphanet:79161	Orphanet:79179	\N	"" []	Orphanet:408	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	1160015	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Isolated glycerol kinase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:408	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	2043404	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Isolated glycerol kinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:408	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	3193627	\N	\N	EFO	5	EFO	genetic disorder	Isolated glycerol kinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:408	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	3193628	\N	\N	EFO	5	EFO	metabolic disease	Isolated glycerol kinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:408	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	4399907	\N	\N	EFO	6	EFO	disease	Isolated glycerol kinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:408	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	4399908	\N	\N	EFO	6	EFO	disease	Isolated glycerol kinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:408	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	5416749	\N	\N	EFO	7	EFO	disposition	Isolated glycerol kinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:408	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	6152122	\N	\N	EFO	8	EFO	material property	Isolated glycerol kinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:408	"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." []	6633935	\N	\N	EFO	9	EFO	experimental factor	Isolated glycerol kinase deficiency
Orphanet:409	\N	\N	"" []	Orphanet:409	"" []	77326	\N	\N	EFO	0	EFO	Hyperkeratosis lenticularis perstans	Hyperkeratosis lenticularis perstans
Orphanet:79360	Orphanet:409	\N	"" []	Orphanet:409	"" []	220965	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Hyperkeratosis lenticularis perstans
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:409	"" []	576792	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Hyperkeratosis lenticularis perstans
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:409	"" []	1160016	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hyperkeratosis lenticularis perstans
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:409	"" []	2043405	\N	\N	EFO	4	EFO	genetic disorder	Hyperkeratosis lenticularis perstans
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:409	"" []	2043406	\N	\N	EFO	4	EFO	skin disease	Hyperkeratosis lenticularis perstans
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:409	"" []	3193629	\N	\N	EFO	5	EFO	disease	Hyperkeratosis lenticularis perstans
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:409	"" []	3193630	\N	\N	EFO	5	EFO	disease	Hyperkeratosis lenticularis perstans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:409	"" []	4399909	\N	\N	EFO	6	EFO	disposition	Hyperkeratosis lenticularis perstans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:409	"" []	5416750	\N	\N	EFO	7	EFO	material property	Hyperkeratosis lenticularis perstans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:409	"" []	6152123	\N	\N	EFO	8	EFO	experimental factor	Hyperkeratosis lenticularis perstans
Orphanet:41	\N	\N	"" []	Orphanet:41	"" []	77327	\N	\N	EFO	0	EFO	Dyschromatosis symmetrica hereditaria	Dyschromatosis symmetrica hereditaria
Orphanet:183466	Orphanet:41	\N	"" []	Orphanet:41	"" []	220966	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Dyschromatosis symmetrica hereditaria
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:41	"" []	576793	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Dyschromatosis symmetrica hereditaria
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:41	"" []	1160017	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dyschromatosis symmetrica hereditaria
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:41	"" []	2043407	\N	\N	EFO	4	EFO	genetic disorder	Dyschromatosis symmetrica hereditaria
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:41	"" []	2043408	\N	\N	EFO	4	EFO	skin disease	Dyschromatosis symmetrica hereditaria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:41	"" []	3193631	\N	\N	EFO	5	EFO	disease	Dyschromatosis symmetrica hereditaria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:41	"" []	3193632	\N	\N	EFO	5	EFO	disease	Dyschromatosis symmetrica hereditaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:41	"" []	4399910	\N	\N	EFO	6	EFO	disposition	Dyschromatosis symmetrica hereditaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:41	"" []	5416751	\N	\N	EFO	7	EFO	material property	Dyschromatosis symmetrica hereditaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:41	"" []	6152124	\N	\N	EFO	8	EFO	experimental factor	Dyschromatosis symmetrica hereditaria
Orphanet:411	\N	\N	"" []	Orphanet:411	"" []	77328	\N	\N	EFO	0	EFO	Hyperlipoproteinemia type 1	Hyperlipoproteinemia type 1
Orphanet:181425	Orphanet:411	\N	"" []	Orphanet:411	"" []	220967	\N	\N	EFO	1	EFO	Major hypertriglyceridemia	Hyperlipoproteinemia type 1
Orphanet:181422	Orphanet:181425	\N	"" []	Orphanet:411	"" []	576794	\N	\N	EFO	2	EFO	Rare hyperlipidemia	Hyperlipoproteinemia type 1
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:411	"" []	1160018	\N	\N	EFO	3	EFO	Rare dyslipidemia	Hyperlipoproteinemia type 1
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:411	"" []	2043409	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hyperlipoproteinemia type 1
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:411	"" []	2043410	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Hyperlipoproteinemia type 1
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:411	"" []	3193633	\N	\N	EFO	5	EFO	genetic disorder	Hyperlipoproteinemia type 1
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:411	"" []	3193634	\N	\N	EFO	5	EFO	endocrine system disease	Hyperlipoproteinemia type 1
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:411	"" []	3193635	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Hyperlipoproteinemia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:411	"" []	5416753	\N	\N	EFO	7	EFO	disease	Hyperlipoproteinemia type 1
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:411	"" []	4399912	\N	\N	EFO	6	EFO	disease	Hyperlipoproteinemia type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:411	"" []	4399913	\N	\N	EFO	6	EFO	genetic disorder	Hyperlipoproteinemia type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:411	"" []	4399914	\N	\N	EFO	6	EFO	metabolic disease	Hyperlipoproteinemia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:411	"" []	5998350	\N	\N	EFO	8	EFO	disposition	Hyperlipoproteinemia type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:411	"" []	5416754	\N	\N	EFO	7	EFO	disease	Hyperlipoproteinemia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:411	"" []	6551546	\N	\N	EFO	9	EFO	material property	Hyperlipoproteinemia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:411	"" []	6889472	\N	\N	EFO	10	EFO	experimental factor	Hyperlipoproteinemia type 1
Orphanet:411602	\N	\N	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	77329	\N	\N	EFO	0	EFO	Hereditary late-onset Parkinson disease	Hereditary late-onset Parkinson disease
EFO:0002508	Orphanet:411602	\N	"A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)" []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	220968	\N	\N	EFO	1	EFO	Parkinson's disease	Hereditary late-onset Parkinson disease
Orphanet:307055	Orphanet:411602	\N	"" []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	220969	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Hereditary late-onset Parkinson disease
EFO:0005772	EFO:0002508	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	576795	\N	\N	EFO	2	EFO	neurodegenerative disease	Hereditary late-onset Parkinson disease
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	576796	\N	\N	EFO	2	EFO	neurodegenerative disease	Hereditary late-onset Parkinson disease
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	576797	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	Hereditary late-onset Parkinson disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	1160019	\N	\N	EFO	3	EFO	nervous system disease	Hereditary late-onset Parkinson disease
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	1160020	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Hereditary late-onset Parkinson disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	4399916	\N	\N	EFO	6	EFO	disease	Hereditary late-onset Parkinson disease
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	2043412	\N	\N	EFO	4	EFO	movement disorder	Hereditary late-onset Parkinson disease
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	2043413	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary late-onset Parkinson disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	5060110	\N	\N	EFO	7	EFO	disposition	Hereditary late-onset Parkinson disease
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	3193637	\N	\N	EFO	5	EFO	nervous system disease	Hereditary late-onset Parkinson disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	3193638	\N	\N	EFO	5	EFO	genetic disorder	Hereditary late-onset Parkinson disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	5877526	\N	\N	EFO	8	EFO	material property	Hereditary late-onset Parkinson disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	4399917	\N	\N	EFO	6	EFO	disease	Hereditary late-onset Parkinson disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:411602	"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." []	6470765	\N	\N	EFO	9	EFO	experimental factor	Hereditary late-onset Parkinson disease
Orphanet:412	\N	\N	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	77330	\N	\N	EFO	0	EFO	Hyperlipoproteinemia type 3	Hyperlipoproteinemia type 3
Orphanet:79211	Orphanet:412	\N	"" []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	220970	\N	\N	EFO	1	EFO	Combined hyperlipidemia	Hyperlipoproteinemia type 3
Orphanet:181422	Orphanet:79211	\N	"" []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	576798	\N	\N	EFO	2	EFO	Rare hyperlipidemia	Hyperlipoproteinemia type 3
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	1160021	\N	\N	EFO	3	EFO	Rare dyslipidemia	Hyperlipoproteinemia type 3
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	2043414	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hyperlipoproteinemia type 3
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	2043415	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Hyperlipoproteinemia type 3
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	3193639	\N	\N	EFO	5	EFO	genetic disorder	Hyperlipoproteinemia type 3
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	3193640	\N	\N	EFO	5	EFO	endocrine system disease	Hyperlipoproteinemia type 3
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	3193641	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Hyperlipoproteinemia type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	5416757	\N	\N	EFO	7	EFO	disease	Hyperlipoproteinemia type 3
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	4399919	\N	\N	EFO	6	EFO	disease	Hyperlipoproteinemia type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	4399920	\N	\N	EFO	6	EFO	genetic disorder	Hyperlipoproteinemia type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	4399921	\N	\N	EFO	6	EFO	metabolic disease	Hyperlipoproteinemia type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	5998351	\N	\N	EFO	8	EFO	disposition	Hyperlipoproteinemia type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	5416758	\N	\N	EFO	7	EFO	disease	Hyperlipoproteinemia type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	6551547	\N	\N	EFO	9	EFO	material property	Hyperlipoproteinemia type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:412	"Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." []	6889473	\N	\N	EFO	10	EFO	experimental factor	Hyperlipoproteinemia type 3
Orphanet:412206	\N	\N	"" []	Orphanet:412206	"" []	77331	\N	\N	EFO	0	EFO	Primary failure of tooth eruption	Primary failure of tooth eruption
Orphanet:164001	Orphanet:412206	\N	"" []	Orphanet:412206	"" []	220971	\N	\N	EFO	1	EFO	Rare odontal or periodontal disorder	Primary failure of tooth eruption
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:412206	"" []	576799	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Primary failure of tooth eruption
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:412206	"" []	1160022	\N	\N	EFO	3	EFO	genetic disorder	Primary failure of tooth eruption
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:412206	"" []	2043416	\N	\N	EFO	4	EFO	disease	Primary failure of tooth eruption
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:412206	"" []	3193642	\N	\N	EFO	5	EFO	disposition	Primary failure of tooth eruption
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:412206	"" []	4399922	\N	\N	EFO	6	EFO	material property	Primary failure of tooth eruption
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:412206	"" []	5416759	\N	\N	EFO	7	EFO	experimental factor	Primary failure of tooth eruption
Orphanet:413	\N	\N	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	77332	\N	\N	EFO	0	EFO	Hyperlipoproteinemia type 4	Hyperlipoproteinemia type 4
Orphanet:181425	Orphanet:413	\N	"" []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	220972	\N	\N	EFO	1	EFO	Major hypertriglyceridemia	Hyperlipoproteinemia type 4
Orphanet:181422	Orphanet:181425	\N	"" []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	576800	\N	\N	EFO	2	EFO	Rare hyperlipidemia	Hyperlipoproteinemia type 4
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	1160023	\N	\N	EFO	3	EFO	Rare dyslipidemia	Hyperlipoproteinemia type 4
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	2043417	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hyperlipoproteinemia type 4
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	2043418	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Hyperlipoproteinemia type 4
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	3193643	\N	\N	EFO	5	EFO	genetic disorder	Hyperlipoproteinemia type 4
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	3193644	\N	\N	EFO	5	EFO	endocrine system disease	Hyperlipoproteinemia type 4
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	3193645	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Hyperlipoproteinemia type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	5416761	\N	\N	EFO	7	EFO	disease	Hyperlipoproteinemia type 4
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	4399924	\N	\N	EFO	6	EFO	disease	Hyperlipoproteinemia type 4
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	4399925	\N	\N	EFO	6	EFO	genetic disorder	Hyperlipoproteinemia type 4
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	4399926	\N	\N	EFO	6	EFO	metabolic disease	Hyperlipoproteinemia type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	5998352	\N	\N	EFO	8	EFO	disposition	Hyperlipoproteinemia type 4
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	5416762	\N	\N	EFO	7	EFO	disease	Hyperlipoproteinemia type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	6551548	\N	\N	EFO	9	EFO	material property	Hyperlipoproteinemia type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:413	"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." []	6889474	\N	\N	EFO	10	EFO	experimental factor	Hyperlipoproteinemia type 4
Orphanet:414	\N	\N	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	77333	\N	\N	EFO	0	EFO	Gyrate atrophy of choroid and retina	Gyrate atrophy of choroid and retina
Orphanet:207018	Orphanet:414	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	220973	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Gyrate atrophy of choroid and retina
Orphanet:289869	Orphanet:414	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	220974	\N	\N	EFO	1	EFO	Disorder of ornithine metabolism	Gyrate atrophy of choroid and retina
Orphanet:98662	Orphanet:414	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	220975	\N	\N	EFO	1	EFO	Unclassified familial retinal dystrophy	Gyrate atrophy of choroid and retina
Orphanet:98712	Orphanet:414	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	220976	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Gyrate atrophy of choroid and retina
Orphanet:98713	Orphanet:414	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	220977	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Gyrate atrophy of choroid and retina
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	576801	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Gyrate atrophy of choroid and retina
Orphanet:79185	Orphanet:289869	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	576802	\N	\N	EFO	2	EFO	Disorder of ornithine or proline metabolism	Gyrate atrophy of choroid and retina
Orphanet:71862	Orphanet:98662	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	576803	\N	\N	EFO	2	EFO	Retinal dystrophy	Gyrate atrophy of choroid and retina
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	576804	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Gyrate atrophy of choroid and retina
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	576805	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Gyrate atrophy of choroid and retina
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	1160024	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Gyrate atrophy of choroid and retina
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	1160025	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Gyrate atrophy of choroid and retina
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	1160026	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Gyrate atrophy of choroid and retina
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	1160027	\N	\N	EFO	3	EFO	Rare genetic eye disease	Gyrate atrophy of choroid and retina
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	2043419	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Gyrate atrophy of choroid and retina
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	2043420	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Gyrate atrophy of choroid and retina
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	2043421	\N	\N	EFO	4	EFO	Rare genetic eye disease	Gyrate atrophy of choroid and retina
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	3193649	\N	\N	EFO	5	EFO	genetic disorder	Gyrate atrophy of choroid and retina
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	3193650	\N	\N	EFO	5	EFO	eye disease	Gyrate atrophy of choroid and retina
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	3193646	\N	\N	EFO	5	EFO	genetic disorder	Gyrate atrophy of choroid and retina
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	3193647	\N	\N	EFO	5	EFO	genetic disorder	Gyrate atrophy of choroid and retina
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	3193648	\N	\N	EFO	5	EFO	metabolic disease	Gyrate atrophy of choroid and retina
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	4134091	\N	\N	EFO	6	EFO	disease	Gyrate atrophy of choroid and retina
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	4134092	\N	\N	EFO	6	EFO	disease	Gyrate atrophy of choroid and retina
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	4399927	\N	\N	EFO	6	EFO	disease	Gyrate atrophy of choroid and retina
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	5182987	\N	\N	EFO	7	EFO	disposition	Gyrate atrophy of choroid and retina
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	5998353	\N	\N	EFO	8	EFO	material property	Gyrate atrophy of choroid and retina
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:414	"Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." []	6551549	\N	\N	EFO	9	EFO	experimental factor	Gyrate atrophy of choroid and retina
Orphanet:415	\N	\N	"Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." []	Orphanet:415	"Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." []	77334	\N	\N	EFO	0	EFO	Hyperornithinemia-hyperammonemia-homocitrullinuria	Hyperornithinemia-hyperammonemia-homocitrullinuria
Orphanet:79167	Orphanet:415	\N	"" []	Orphanet:415	"Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." []	220978	\N	\N	EFO	1	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Hyperornithinemia-hyperammonemia-homocitrullinuria
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:415	"Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." []	576806	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Hyperornithinemia-hyperammonemia-homocitrullinuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:415	"Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." []	1160028	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hyperornithinemia-hyperammonemia-homocitrullinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:415	"Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." []	2043424	\N	\N	EFO	4	EFO	genetic disorder	Hyperornithinemia-hyperammonemia-homocitrullinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:415	"Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." []	2043425	\N	\N	EFO	4	EFO	metabolic disease	Hyperornithinemia-hyperammonemia-homocitrullinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:415	"Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." []	3193653	\N	\N	EFO	5	EFO	disease	Hyperornithinemia-hyperammonemia-homocitrullinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:415	"Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." []	3193654	\N	\N	EFO	5	EFO	disease	Hyperornithinemia-hyperammonemia-homocitrullinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:415	"Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." []	4399929	\N	\N	EFO	6	EFO	disposition	Hyperornithinemia-hyperammonemia-homocitrullinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:415	"Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." []	5416764	\N	\N	EFO	7	EFO	material property	Hyperornithinemia-hyperammonemia-homocitrullinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:415	"Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." []	6152129	\N	\N	EFO	8	EFO	experimental factor	Hyperornithinemia-hyperammonemia-homocitrullinuria
Orphanet:416	\N	\N	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	77335	\N	\N	EFO	0	EFO	Primary hyperoxaluria	Primary hyperoxaluria
Orphanet:308998	Orphanet:416	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	220979	\N	\N	EFO	1	EFO	Disorder of glyoxylate metabolism	Primary hyperoxaluria
Orphanet:93593	Orphanet:416	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	220980	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Primary hyperoxaluria
Orphanet:98666	Orphanet:416	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	220981	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Primary hyperoxaluria
Orphanet:98713	Orphanet:416	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	220982	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Primary hyperoxaluria
Orphanet:79161	Orphanet:308998	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	576807	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Primary hyperoxaluria
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	576808	\N	\N	EFO	2	EFO	Rare genetic renal disease	Primary hyperoxaluria
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	576809	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Primary hyperoxaluria
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	576810	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Primary hyperoxaluria
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	1160029	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Primary hyperoxaluria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	1160030	\N	\N	EFO	3	EFO	genetic disorder	Primary hyperoxaluria
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	1160031	\N	\N	EFO	3	EFO	Retinal dystrophy	Primary hyperoxaluria
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	1160032	\N	\N	EFO	3	EFO	Rare genetic eye disease	Primary hyperoxaluria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	2043426	\N	\N	EFO	4	EFO	genetic disorder	Primary hyperoxaluria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	2043427	\N	\N	EFO	4	EFO	metabolic disease	Primary hyperoxaluria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	5060111	\N	\N	EFO	7	EFO	disease	Primary hyperoxaluria
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	2043429	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Primary hyperoxaluria
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	4399931	\N	\N	EFO	6	EFO	genetic disorder	Primary hyperoxaluria
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	4399932	\N	\N	EFO	6	EFO	eye disease	Primary hyperoxaluria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	3193656	\N	\N	EFO	5	EFO	disease	Primary hyperoxaluria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	5817760	\N	\N	EFO	8	EFO	disposition	Primary hyperoxaluria
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	3193658	\N	\N	EFO	5	EFO	Rare genetic eye disease	Primary hyperoxaluria
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	5060112	\N	\N	EFO	7	EFO	disease	Primary hyperoxaluria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	6410240	\N	\N	EFO	9	EFO	material property	Primary hyperoxaluria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:416	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	6808075	\N	\N	EFO	10	EFO	experimental factor	Primary hyperoxaluria
Orphanet:417	\N	\N	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	77336	\N	\N	EFO	0	EFO	Neonatal severe primary hyperparathyroidism	Neonatal severe primary hyperparathyroidism
Orphanet:208596	Orphanet:417	\N	"" []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	220983	\N	\N	EFO	1	EFO	Genetic hyperparathyroidism	Neonatal severe primary hyperparathyroidism
Orphanet:93447	Orphanet:417	\N	"" []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	220984	\N	\N	EFO	1	EFO	Primary bone dysplasia with defective bone mineralization	Neonatal severe primary hyperparathyroidism
EFO:0005754	Orphanet:208596	\N	"a disease that occurs in the parathyroid" []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	576811	\N	\N	EFO	2	EFO	parathyroid disease	Neonatal severe primary hyperparathyroidism
Orphanet:183634	Orphanet:208596	\N	"" []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	576812	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Neonatal severe primary hyperparathyroidism
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	576813	\N	\N	EFO	2	EFO	Primary bone dysplasia	Neonatal severe primary hyperparathyroidism
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	1160033	\N	\N	EFO	3	EFO	calcium metabolic disease	Neonatal severe primary hyperparathyroidism
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	1160034	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Neonatal severe primary hyperparathyroidism
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	1160035	\N	\N	EFO	3	EFO	Rare genetic bone disease	Neonatal severe primary hyperparathyroidism
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	1160036	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Neonatal severe primary hyperparathyroidism
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	2043432	\N	\N	EFO	4	EFO	metabolic disease	Neonatal severe primary hyperparathyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	2043433	\N	\N	EFO	4	EFO	genetic disorder	Neonatal severe primary hyperparathyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	2043434	\N	\N	EFO	4	EFO	endocrine system disease	Neonatal severe primary hyperparathyroidism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	2043435	\N	\N	EFO	4	EFO	genetic disorder	Neonatal severe primary hyperparathyroidism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	2043436	\N	\N	EFO	4	EFO	bone disease	Neonatal severe primary hyperparathyroidism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	2043437	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Neonatal severe primary hyperparathyroidism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	3193660	\N	\N	EFO	5	EFO	disease	Neonatal severe primary hyperparathyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	4399935	\N	\N	EFO	6	EFO	disease	Neonatal severe primary hyperparathyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	3193662	\N	\N	EFO	5	EFO	disease	Neonatal severe primary hyperparathyroidism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	3193663	\N	\N	EFO	5	EFO	skeletal system disease	Neonatal severe primary hyperparathyroidism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	3193664	\N	\N	EFO	5	EFO	genetic disorder	Neonatal severe primary hyperparathyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	5182989	\N	\N	EFO	7	EFO	disposition	Neonatal severe primary hyperparathyroidism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	4399934	\N	\N	EFO	6	EFO	disease	Neonatal severe primary hyperparathyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	5998355	\N	\N	EFO	8	EFO	material property	Neonatal severe primary hyperparathyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:417	" 3.5 mM) from birth and associated with major hyperparathyroidism." []	6551550	\N	\N	EFO	9	EFO	experimental factor	Neonatal severe primary hyperparathyroidism
Orphanet:41751	\N	\N	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	77337	\N	\N	EFO	0	EFO	Bietti crystalline dystrophy	Bietti crystalline dystrophy
Orphanet:227786	Orphanet:41751	\N	"" []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	220985	\N	\N	EFO	1	EFO	Familial flecked retinopathy	Bietti crystalline dystrophy
Orphanet:98664	Orphanet:227786	\N	"" []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	576814	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Bietti crystalline dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	1160037	\N	\N	EFO	3	EFO	Retinal dystrophy	Bietti crystalline dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	2043438	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Bietti crystalline dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	3193665	\N	\N	EFO	5	EFO	Rare genetic eye disease	Bietti crystalline dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	4399936	\N	\N	EFO	6	EFO	genetic disorder	Bietti crystalline dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	4399937	\N	\N	EFO	6	EFO	eye disease	Bietti crystalline dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	5416767	\N	\N	EFO	7	EFO	disease	Bietti crystalline dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	5416768	\N	\N	EFO	7	EFO	disease	Bietti crystalline dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	6152131	\N	\N	EFO	8	EFO	disposition	Bietti crystalline dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	6633939	\N	\N	EFO	9	EFO	material property	Bietti crystalline dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:41751	"Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." []	6926189	\N	\N	EFO	10	EFO	experimental factor	Bietti crystalline dystrophy
Orphanet:418	\N	\N	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	77338	\N	\N	EFO	0	EFO	Congenital adrenal hyperplasia	Congenital adrenal hyperplasia
Orphanet:101960	Orphanet:418	\N	"" []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	220986	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	Congenital adrenal hyperplasia
Orphanet:181412	Orphanet:418	\N	"" []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	220987	\N	\N	EFO	1	EFO	Adrenogenital syndrome	Congenital adrenal hyperplasia
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	576815	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Congenital adrenal hyperplasia
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	576816	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Congenital adrenal hyperplasia
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	1160038	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Congenital adrenal hyperplasia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	2043439	\N	\N	EFO	4	EFO	genetic disorder	Congenital adrenal hyperplasia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	2043440	\N	\N	EFO	4	EFO	endocrine system disease	Congenital adrenal hyperplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	3193666	\N	\N	EFO	5	EFO	disease	Congenital adrenal hyperplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	3193667	\N	\N	EFO	5	EFO	disease	Congenital adrenal hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	4399938	\N	\N	EFO	6	EFO	disposition	Congenital adrenal hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	5416769	\N	\N	EFO	7	EFO	material property	Congenital adrenal hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:418	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	6152132	\N	\N	EFO	8	EFO	experimental factor	Congenital adrenal hyperplasia
Orphanet:419	\N	\N	"" []	Orphanet:419	"" []	77339	\N	\N	EFO	0	EFO	Hyperprolinemia type 1	Hyperprolinemia type 1
Orphanet:289866	Orphanet:419	\N	"" []	Orphanet:419	"" []	220988	\N	\N	EFO	1	EFO	Disorder of proline metabolism	Hyperprolinemia type 1
Orphanet:68385	Orphanet:419	\N	"" []	Orphanet:419	"" []	220989	\N	\N	EFO	1	EFO	Neurometabolic disease	Hyperprolinemia type 1
Orphanet:79185	Orphanet:289866	\N	"" []	Orphanet:419	"" []	576817	\N	\N	EFO	2	EFO	Disorder of ornithine or proline metabolism	Hyperprolinemia type 1
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:419	"" []	576818	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hyperprolinemia type 1
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:419	"" []	1160039	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Hyperprolinemia type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:419	"" []	1160040	\N	\N	EFO	3	EFO	genetic disorder	Hyperprolinemia type 1
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:419	"" []	2043441	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hyperprolinemia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:419	"" []	4399939	\N	\N	EFO	6	EFO	disease	Hyperprolinemia type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:419	"" []	3193668	\N	\N	EFO	5	EFO	genetic disorder	Hyperprolinemia type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:419	"" []	3193669	\N	\N	EFO	5	EFO	metabolic disease	Hyperprolinemia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:419	"" []	5060113	\N	\N	EFO	7	EFO	disposition	Hyperprolinemia type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:419	"" []	4399940	\N	\N	EFO	6	EFO	disease	Hyperprolinemia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:419	"" []	5877527	\N	\N	EFO	8	EFO	material property	Hyperprolinemia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:419	"" []	6470766	\N	\N	EFO	9	EFO	experimental factor	Hyperprolinemia type 1
Orphanet:42	\N	\N	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	77340	\N	\N	EFO	0	EFO	Medium chain acyl-CoA dehydrogenase deficiency	Medium chain acyl-CoA dehydrogenase deficiency
Orphanet:309120	Orphanet:42	\N	"" []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	220990	\N	\N	EFO	1	EFO	Acyl-CoA dehydrogenase deficiency	Medium chain acyl-CoA dehydrogenase deficiency
Orphanet:309115	Orphanet:309120	\N	"" []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	576819	\N	\N	EFO	2	EFO	Disorder of mitochondrial fatty acid oxidation	Medium chain acyl-CoA dehydrogenase deficiency
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	1160041	\N	\N	EFO	3	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Medium chain acyl-CoA dehydrogenase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	2043443	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Medium chain acyl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	3193671	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Medium chain acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	4399942	\N	\N	EFO	6	EFO	genetic disorder	Medium chain acyl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	4399943	\N	\N	EFO	6	EFO	metabolic disease	Medium chain acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	5416771	\N	\N	EFO	7	EFO	disease	Medium chain acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	5416772	\N	\N	EFO	7	EFO	disease	Medium chain acyl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	6152133	\N	\N	EFO	8	EFO	disposition	Medium chain acyl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	6633940	\N	\N	EFO	9	EFO	material property	Medium chain acyl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:42	"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." []	6926190	\N	\N	EFO	10	EFO	experimental factor	Medium chain acyl-CoA dehydrogenase deficiency
Orphanet:42062	\N	\N	"" []	Orphanet:42062	"" []	77341	\N	\N	EFO	0	EFO	Iminoglycinuria	Iminoglycinuria
Orphanet:308451	Orphanet:42062	\N	"" []	Orphanet:42062	"" []	220991	\N	\N	EFO	1	EFO	Disorder of neutral amino acid transport	Iminoglycinuria
Orphanet:79166	Orphanet:308451	\N	"" []	Orphanet:42062	"" []	576820	\N	\N	EFO	2	EFO	Disorder of amino acid absorption and transport	Iminoglycinuria
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:42062	"" []	1160042	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Iminoglycinuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:42062	"" []	2043444	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Iminoglycinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:42062	"" []	3193672	\N	\N	EFO	5	EFO	genetic disorder	Iminoglycinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:42062	"" []	3193673	\N	\N	EFO	5	EFO	metabolic disease	Iminoglycinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42062	"" []	4399944	\N	\N	EFO	6	EFO	disease	Iminoglycinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42062	"" []	4399945	\N	\N	EFO	6	EFO	disease	Iminoglycinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:42062	"" []	5416773	\N	\N	EFO	7	EFO	disposition	Iminoglycinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:42062	"" []	6152134	\N	\N	EFO	8	EFO	material property	Iminoglycinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:42062	"" []	6633941	\N	\N	EFO	9	EFO	experimental factor	Iminoglycinuria
Orphanet:422	\N	\N	". (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." []	Orphanet:422	". (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." []	77342	\N	\N	EFO	0	EFO	Idiopathic and/or familial pulmonary arterial hypertension	Idiopathic and/or familial pulmonary arterial hypertension
Orphanet:156610	Orphanet:422	\N	"" []	Orphanet:422	". (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." []	220992	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Idiopathic and/or familial pulmonary arterial hypertension
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:422	". (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." []	576821	\N	\N	EFO	2	EFO	genetic disorder	Idiopathic and/or familial pulmonary arterial hypertension
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:422	". (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." []	576822	\N	\N	EFO	2	EFO	respiratory system disease	Idiopathic and/or familial pulmonary arterial hypertension
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:422	". (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." []	1160043	\N	\N	EFO	3	EFO	disease	Idiopathic and/or familial pulmonary arterial hypertension
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:422	". (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." []	1160044	\N	\N	EFO	3	EFO	disease	Idiopathic and/or familial pulmonary arterial hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:422	". (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." []	2043445	\N	\N	EFO	4	EFO	disposition	Idiopathic and/or familial pulmonary arterial hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:422	". (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." []	3193674	\N	\N	EFO	5	EFO	material property	Idiopathic and/or familial pulmonary arterial hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:422	". (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." []	4399946	\N	\N	EFO	6	EFO	experimental factor	Idiopathic and/or familial pulmonary arterial hypertension
Orphanet:423	\N	\N	"" []	Orphanet:423	"" []	77343	\N	\N	EFO	0	EFO	Malignant hyperthermia	Malignant hyperthermia
Orphanet:352298	Orphanet:423	\N	"" []	Orphanet:423	"" []	220993	\N	\N	EFO	1	EFO	Genetic muscular channelopathy	Malignant hyperthermia
Orphanet:183497	Orphanet:352298	\N	"" []	Orphanet:423	"" []	576823	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Malignant hyperthermia
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:423	"" []	1160045	\N	\N	EFO	3	EFO	muscular disease	Malignant hyperthermia
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:423	"" []	1160046	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Malignant hyperthermia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:423	"" []	2043446	\N	\N	EFO	4	EFO	skeletal system disease	Malignant hyperthermia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:423	"" []	2043447	\N	\N	EFO	4	EFO	genetic disorder	Malignant hyperthermia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:423	"" []	3193675	\N	\N	EFO	5	EFO	disease	Malignant hyperthermia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:423	"" []	3193676	\N	\N	EFO	5	EFO	disease	Malignant hyperthermia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:423	"" []	4399947	\N	\N	EFO	6	EFO	disposition	Malignant hyperthermia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:423	"" []	5416774	\N	\N	EFO	7	EFO	material property	Malignant hyperthermia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:423	"" []	6152135	\N	\N	EFO	8	EFO	experimental factor	Malignant hyperthermia
Orphanet:424	\N	\N	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	77344	\N	\N	EFO	0	EFO	Familial hyperthyroidism due to mutations in TSH receptor	Familial hyperthyroidism due to mutations in TSH receptor
Orphanet:156629	Orphanet:424	\N	"" []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	220994	\N	\N	EFO	1	EFO	Genetic hypertension	Familial hyperthyroidism due to mutations in TSH receptor
Orphanet:181399	Orphanet:424	\N	"" []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	220995	\N	\N	EFO	1	EFO	Rare hyperthyroidism	Familial hyperthyroidism due to mutations in TSH receptor
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	576824	\N	\N	EFO	2	EFO	Rare genetic renal disease	Familial hyperthyroidism due to mutations in TSH receptor
Orphanet:183631	Orphanet:181399	\N	"" []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	576825	\N	\N	EFO	2	EFO	Rare genetic thyroid disease	Familial hyperthyroidism due to mutations in TSH receptor
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	1160047	\N	\N	EFO	3	EFO	genetic disorder	Familial hyperthyroidism due to mutations in TSH receptor
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	1160048	\N	\N	EFO	3	EFO	thyroid disease	Familial hyperthyroidism due to mutations in TSH receptor
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	1160049	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial hyperthyroidism due to mutations in TSH receptor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	3193679	\N	\N	EFO	5	EFO	disease	Familial hyperthyroidism due to mutations in TSH receptor
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	2043449	\N	\N	EFO	4	EFO	endocrine system disease	Familial hyperthyroidism due to mutations in TSH receptor
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	2043450	\N	\N	EFO	4	EFO	genetic disorder	Familial hyperthyroidism due to mutations in TSH receptor
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	2043451	\N	\N	EFO	4	EFO	endocrine system disease	Familial hyperthyroidism due to mutations in TSH receptor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	4134094	\N	\N	EFO	6	EFO	disposition	Familial hyperthyroidism due to mutations in TSH receptor
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	3193678	\N	\N	EFO	5	EFO	disease	Familial hyperthyroidism due to mutations in TSH receptor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	5182990	\N	\N	EFO	7	EFO	material property	Familial hyperthyroidism due to mutations in TSH receptor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:424	"Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." []	5998356	\N	\N	EFO	8	EFO	experimental factor	Familial hyperthyroidism due to mutations in TSH receptor
Orphanet:425	\N	\N	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	77345	\N	\N	EFO	0	EFO	Apolipoprotein A-I deficiency	Apolipoprotein A-I deficiency
Orphanet:31153	Orphanet:425	\N	"" []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	220996	\N	\N	EFO	1	EFO	Hypoalphalipoproteinemia	Apolipoprotein A-I deficiency
Orphanet:181431	Orphanet:31153	\N	"" []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	576826	\N	\N	EFO	2	EFO	Rare hypolipidemia	Apolipoprotein A-I deficiency
Orphanet:101953	Orphanet:181431	\N	"" []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	1160050	\N	\N	EFO	3	EFO	Rare dyslipidemia	Apolipoprotein A-I deficiency
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	2043452	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Apolipoprotein A-I deficiency
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	2043453	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Apolipoprotein A-I deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	3193680	\N	\N	EFO	5	EFO	genetic disorder	Apolipoprotein A-I deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	3193681	\N	\N	EFO	5	EFO	endocrine system disease	Apolipoprotein A-I deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	3193682	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Apolipoprotein A-I deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	5416777	\N	\N	EFO	7	EFO	disease	Apolipoprotein A-I deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	4399950	\N	\N	EFO	6	EFO	disease	Apolipoprotein A-I deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	4399951	\N	\N	EFO	6	EFO	genetic disorder	Apolipoprotein A-I deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	4399952	\N	\N	EFO	6	EFO	metabolic disease	Apolipoprotein A-I deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	5998357	\N	\N	EFO	8	EFO	disposition	Apolipoprotein A-I deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	5416778	\N	\N	EFO	7	EFO	disease	Apolipoprotein A-I deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	6551551	\N	\N	EFO	9	EFO	material property	Apolipoprotein A-I deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:425	"Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." []	6889475	\N	\N	EFO	10	EFO	experimental factor	Apolipoprotein A-I deficiency
Orphanet:42642	\N	\N	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	Orphanet:42642	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	77346	\N	\N	EFO	0	EFO	PFAPA syndrome	PFAPA syndrome
Orphanet:290839	Orphanet:42642	\N	"" []	Orphanet:42642	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	220997	\N	\N	EFO	1	EFO	Autoinflammatory syndrome with immune deficiency	PFAPA syndrome
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:42642	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	576827	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	PFAPA syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:42642	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	1160051	\N	\N	EFO	3	EFO	Primary immunodeficiency	PFAPA syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:42642	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	2043454	\N	\N	EFO	4	EFO	Rare genetic immune disease	PFAPA syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:42642	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	3193683	\N	\N	EFO	5	EFO	genetic disorder	PFAPA syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:42642	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	3193684	\N	\N	EFO	5	EFO	immune system disease	PFAPA syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42642	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	4399953	\N	\N	EFO	6	EFO	disease	PFAPA syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42642	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	4399954	\N	\N	EFO	6	EFO	disease	PFAPA syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:42642	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	5416779	\N	\N	EFO	7	EFO	disposition	PFAPA syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:42642	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	6152137	\N	\N	EFO	8	EFO	material property	PFAPA syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:42642	"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." []	6633943	\N	\N	EFO	9	EFO	experimental factor	PFAPA syndrome
Orphanet:42665	\N	\N	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	77347	\N	\N	EFO	0	EFO	Tietz syndrome	Tietz syndrome
Orphanet:183469	Orphanet:42665	\N	"" []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	220998	\N	\N	EFO	1	EFO	Genetic hypopigmentation of the skin	Tietz syndrome
Orphanet:90642	Orphanet:42665	\N	"" []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	220999	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Tietz syndrome
Orphanet:98708	Orphanet:42665	\N	"" []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	221000	\N	\N	EFO	1	EFO	Pigmentation disorder with eye involvement, excluding albinism	Tietz syndrome
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	576828	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Tietz syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	576829	\N	\N	EFO	2	EFO	Rare genetic deafness	Tietz syndrome
Orphanet:98700	Orphanet:98708	\N	"" []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	576830	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement	Tietz syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	1160052	\N	\N	EFO	3	EFO	Rare genetic skin disease	Tietz syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	1160053	\N	\N	EFO	3	EFO	genetic disorder	Tietz syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	1160054	\N	\N	EFO	3	EFO	auditory system disease	Tietz syndrome
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	1160055	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Tietz syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	2043455	\N	\N	EFO	4	EFO	genetic disorder	Tietz syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	2043456	\N	\N	EFO	4	EFO	skin disease	Tietz syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	4399957	\N	\N	EFO	6	EFO	disease	Tietz syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	2043458	\N	\N	EFO	4	EFO	sensory system disease	Tietz syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	2043459	\N	\N	EFO	4	EFO	Rare genetic eye disease	Tietz syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	3193686	\N	\N	EFO	5	EFO	disease	Tietz syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	5060114	\N	\N	EFO	7	EFO	disposition	Tietz syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	3193688	\N	\N	EFO	5	EFO	nervous system disease	Tietz syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	3193689	\N	\N	EFO	5	EFO	genetic disorder	Tietz syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	3193690	\N	\N	EFO	5	EFO	eye disease	Tietz syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	5877528	\N	\N	EFO	8	EFO	material property	Tietz syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	4399956	\N	\N	EFO	6	EFO	disease	Tietz syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	4399958	\N	\N	EFO	6	EFO	disease	Tietz syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:42665	"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." []	6470767	\N	\N	EFO	9	EFO	experimental factor	Tietz syndrome
Orphanet:427	\N	\N	"" []	Orphanet:427	"" []	77348	\N	\N	EFO	0	EFO	Familial hypoaldosteronism	Familial hypoaldosteronism
Orphanet:183637	Orphanet:427	\N	"" []	Orphanet:427	"" []	221001	\N	\N	EFO	1	EFO	Rare genetic adrenal disease	Familial hypoaldosteronism
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:427	"" []	576831	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Familial hypoaldosteronism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:427	"" []	1160056	\N	\N	EFO	3	EFO	genetic disorder	Familial hypoaldosteronism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:427	"" []	1160057	\N	\N	EFO	3	EFO	endocrine system disease	Familial hypoaldosteronism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:427	"" []	2043460	\N	\N	EFO	4	EFO	disease	Familial hypoaldosteronism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:427	"" []	2043461	\N	\N	EFO	4	EFO	disease	Familial hypoaldosteronism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:427	"" []	3193691	\N	\N	EFO	5	EFO	disposition	Familial hypoaldosteronism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:427	"" []	4399959	\N	\N	EFO	6	EFO	material property	Familial hypoaldosteronism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:427	"" []	5416781	\N	\N	EFO	7	EFO	experimental factor	Familial hypoaldosteronism
Orphanet:42738	\N	\N	"" []	Orphanet:42738	"" []	77349	\N	\N	EFO	0	EFO	Severe congenital neutropenia	Severe congenital neutropenia
Orphanet:101987	Orphanet:42738	\N	"" []	Orphanet:42738	"" []	221002	\N	\N	EFO	1	EFO	Constitutional neutropenia	Severe congenital neutropenia
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:42738	"" []	576832	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Severe congenital neutropenia
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:42738	"" []	1160058	\N	\N	EFO	3	EFO	Primary immunodeficiency	Severe congenital neutropenia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:42738	"" []	2043462	\N	\N	EFO	4	EFO	Rare genetic immune disease	Severe congenital neutropenia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:42738	"" []	3193692	\N	\N	EFO	5	EFO	genetic disorder	Severe congenital neutropenia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:42738	"" []	3193693	\N	\N	EFO	5	EFO	immune system disease	Severe congenital neutropenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42738	"" []	4399960	\N	\N	EFO	6	EFO	disease	Severe congenital neutropenia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42738	"" []	4399961	\N	\N	EFO	6	EFO	disease	Severe congenital neutropenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:42738	"" []	5416782	\N	\N	EFO	7	EFO	disposition	Severe congenital neutropenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:42738	"" []	6152138	\N	\N	EFO	8	EFO	material property	Severe congenital neutropenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:42738	"" []	6633944	\N	\N	EFO	9	EFO	experimental factor	Severe congenital neutropenia
Orphanet:42775	\N	\N	"" []	Orphanet:42775	"" []	77350	\N	\N	EFO	0	EFO	PHACE syndrome	PHACE syndrome
Orphanet:156532	Orphanet:42775	\N	"" []	Orphanet:42775	"" []	221003	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	PHACE syndrome
Orphanet:269567	Orphanet:42775	\N	"" []	Orphanet:42775	"" []	221004	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	PHACE syndrome
Orphanet:330197	Orphanet:42775	\N	"" []	Orphanet:42775	"" []	221005	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	PHACE syndrome
Orphanet:371436	Orphanet:42775	\N	"" []	Orphanet:42775	"" []	221006	\N	\N	EFO	1	EFO	Genetic neurovascular malformation	PHACE syndrome
Orphanet:98592	Orphanet:42775	\N	"" []	Orphanet:42775	"" []	221007	\N	\N	EFO	1	EFO	Palpebral tumor with a vascular malformation	PHACE syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:42775	"" []	576833	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	PHACE syndrome
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:42775	"" []	576834	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	PHACE syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:42775	"" []	576835	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	PHACE syndrome
Orphanet:183503	Orphanet:371436	\N	"" []	Orphanet:42775	"" []	576836	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	PHACE syndrome
Orphanet:211240	Orphanet:371436	\N	"" []	Orphanet:42775	"" []	576837	\N	\N	EFO	2	EFO	Genetic vascular anomaly	PHACE syndrome
Orphanet:98580	Orphanet:98592	\N	"" []	Orphanet:42775	"" []	576838	\N	\N	EFO	2	EFO	Palpebral tumor	PHACE syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:42775	"" []	1160059	\N	\N	EFO	3	EFO	genetic disorder	PHACE syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:42775	"" []	1160060	\N	\N	EFO	3	EFO	heart disease	PHACE syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:42775	"" []	1160061	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	PHACE syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:42775	"" []	1160062	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	PHACE syndrome
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:42775	"" []	1160063	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	PHACE syndrome
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:42775	"" []	1160064	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	PHACE syndrome
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:42775	"" []	1160065	\N	\N	EFO	3	EFO	Rare palpebral disease	PHACE syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42775	"" []	5416784	\N	\N	EFO	7	EFO	disease	PHACE syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:42775	"" []	2043464	\N	\N	EFO	4	EFO	cardiovascular disease	PHACE syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:42775	"" []	2043465	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	PHACE syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:42775	"" []	2043466	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	PHACE syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:42775	"" []	3193696	\N	\N	EFO	5	EFO	genetic disorder	PHACE syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:42775	"" []	3193697	\N	\N	EFO	5	EFO	genetic disorder	PHACE syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:42775	"" []	2043469	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	PHACE syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:42775	"" []	5817761	\N	\N	EFO	8	EFO	disposition	PHACE syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42775	"" []	3193695	\N	\N	EFO	5	EFO	disease	PHACE syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:42775	"" []	3193699	\N	\N	EFO	5	EFO	Rare genetic eye disease	PHACE syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:42775	"" []	6410241	\N	\N	EFO	9	EFO	material property	PHACE syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:42775	"" []	4399963	\N	\N	EFO	6	EFO	genetic disorder	PHACE syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:42775	"" []	4399964	\N	\N	EFO	6	EFO	eye disease	PHACE syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:42775	"" []	6808076	\N	\N	EFO	10	EFO	experimental factor	PHACE syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:42775	"" []	5416785	\N	\N	EFO	7	EFO	disease	PHACE syndrome
Orphanet:428	\N	\N	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	77351	\N	\N	EFO	0	EFO	Autosomal dominant hypocalcemia	Autosomal dominant hypocalcemia
Orphanet:2238	Orphanet:428	\N	"" []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	221008	\N	\N	EFO	1	EFO	Familial isolated hypoparathyroidism	Autosomal dominant hypocalcemia
Orphanet:208593	Orphanet:2238	\N	"" []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	576839	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Autosomal dominant hypocalcemia
Orphanet:98712	Orphanet:2238	\N	"" []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	576840	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Autosomal dominant hypocalcemia
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	1160066	\N	\N	EFO	3	EFO	parathyroid disease	Autosomal dominant hypocalcemia
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	1160067	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Autosomal dominant hypocalcemia
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	1160068	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Autosomal dominant hypocalcemia
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	2043470	\N	\N	EFO	4	EFO	calcium metabolic disease	Autosomal dominant hypocalcemia
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	2043471	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Autosomal dominant hypocalcemia
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	2043472	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal dominant hypocalcemia
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	3193700	\N	\N	EFO	5	EFO	metabolic disease	Autosomal dominant hypocalcemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	3193701	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant hypocalcemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	3193702	\N	\N	EFO	5	EFO	endocrine system disease	Autosomal dominant hypocalcemia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	3193703	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant hypocalcemia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	3193704	\N	\N	EFO	5	EFO	eye disease	Autosomal dominant hypocalcemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	4399965	\N	\N	EFO	6	EFO	disease	Autosomal dominant hypocalcemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	4399966	\N	\N	EFO	6	EFO	disease	Autosomal dominant hypocalcemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	4399967	\N	\N	EFO	6	EFO	disease	Autosomal dominant hypocalcemia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	4399968	\N	\N	EFO	6	EFO	disease	Autosomal dominant hypocalcemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	5416786	\N	\N	EFO	7	EFO	disposition	Autosomal dominant hypocalcemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	6152139	\N	\N	EFO	8	EFO	material property	Autosomal dominant hypocalcemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:428	"Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." []	6633945	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant hypocalcemia
Orphanet:429	\N	\N	"" []	Orphanet:429	"" []	77352	\N	\N	EFO	0	EFO	Hypochondroplasia	Hypochondroplasia
Orphanet:364536	Orphanet:429	\N	"" []	Orphanet:429	"" []	221009	\N	\N	EFO	1	EFO	Primary bone dysplasia with micromelia	Hypochondroplasia
Orphanet:93420	Orphanet:429	\N	"" []	Orphanet:429	"" []	221010	\N	\N	EFO	1	EFO	FGFR3-related chondrodysplasia	Hypochondroplasia
Orphanet:364526	Orphanet:364536	\N	"" []	Orphanet:429	"" []	576841	\N	\N	EFO	2	EFO	Primary bone dysplasia	Hypochondroplasia
Orphanet:364803	Orphanet:93420	\N	"" []	Orphanet:429	"" []	576842	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Hypochondroplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:429	"" []	1160069	\N	\N	EFO	3	EFO	Rare genetic bone disease	Hypochondroplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:429	"" []	1160070	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Hypochondroplasia
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:429	"" []	1160071	\N	\N	EFO	3	EFO	Rare genetic bone disease	Hypochondroplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:429	"" []	2043473	\N	\N	EFO	4	EFO	genetic disorder	Hypochondroplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:429	"" []	2043474	\N	\N	EFO	4	EFO	bone disease	Hypochondroplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:429	"" []	2043475	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hypochondroplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:429	"" []	4399971	\N	\N	EFO	6	EFO	disease	Hypochondroplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:429	"" []	3193706	\N	\N	EFO	5	EFO	skeletal system disease	Hypochondroplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:429	"" []	3193707	\N	\N	EFO	5	EFO	genetic disorder	Hypochondroplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:429	"" []	5182993	\N	\N	EFO	7	EFO	disposition	Hypochondroplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:429	"" []	4399970	\N	\N	EFO	6	EFO	disease	Hypochondroplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:429	"" []	5998360	\N	\N	EFO	8	EFO	material property	Hypochondroplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:429	"" []	6551552	\N	\N	EFO	9	EFO	experimental factor	Hypochondroplasia
Orphanet:43	\N	\N	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	77353	\N	\N	EFO	0	EFO	X-linked adrenoleukodystrophy	X-linked adrenoleukodystrophy
Orphanet:101960	Orphanet:43	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	221011	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	X-linked adrenoleukodystrophy
Orphanet:181441	Orphanet:43	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	221012	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	X-linked adrenoleukodystrophy
Orphanet:183500	Orphanet:43	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	221013	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	X-linked adrenoleukodystrophy
Orphanet:68356	Orphanet:43	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	221014	\N	\N	EFO	1	EFO	Leukodystrophy	X-linked adrenoleukodystrophy
Orphanet:68385	Orphanet:43	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	221015	\N	\N	EFO	1	EFO	Neurometabolic disease	X-linked adrenoleukodystrophy
Orphanet:79188	Orphanet:43	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	221016	\N	\N	EFO	1	EFO	Peroxisomal beta-oxidation disorder	X-linked adrenoleukodystrophy
Orphanet:98543	Orphanet:43	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	221017	\N	\N	EFO	1	EFO	Metabolic disease with dementia	X-linked adrenoleukodystrophy
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	576843	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	X-linked adrenoleukodystrophy
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	576844	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	X-linked adrenoleukodystrophy
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	576845	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	X-linked adrenoleukodystrophy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	576846	\N	\N	EFO	2	EFO	neurodegenerative disease	X-linked adrenoleukodystrophy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	576847	\N	\N	EFO	2	EFO	brain disease	X-linked adrenoleukodystrophy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	576848	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	X-linked adrenoleukodystrophy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	576849	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	X-linked adrenoleukodystrophy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	576850	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	X-linked adrenoleukodystrophy
Orphanet:309810	Orphanet:79188	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	576851	\N	\N	EFO	2	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	X-linked adrenoleukodystrophy
Orphanet:158124	Orphanet:98543	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	576852	\N	\N	EFO	2	EFO	Genetic dementia	X-linked adrenoleukodystrophy
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	1160072	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	X-linked adrenoleukodystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	2043476	\N	\N	EFO	4	EFO	genetic disorder	X-linked adrenoleukodystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	2043477	\N	\N	EFO	4	EFO	endocrine system disease	X-linked adrenoleukodystrophy
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	1160075	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	X-linked adrenoleukodystrophy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	1160076	\N	\N	EFO	3	EFO	nervous system disease	X-linked adrenoleukodystrophy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	2043483	\N	\N	EFO	4	EFO	nervous system disease	X-linked adrenoleukodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	2043484	\N	\N	EFO	4	EFO	genetic disorder	X-linked adrenoleukodystrophy
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	1160079	\N	\N	EFO	3	EFO	Peroxisomal disease	X-linked adrenoleukodystrophy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	1160080	\N	\N	EFO	3	EFO	brain disease	X-linked adrenoleukodystrophy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	1160081	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked adrenoleukodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	5416789	\N	\N	EFO	7	EFO	disease	X-linked adrenoleukodystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	3000365	\N	\N	EFO	5	EFO	disease	X-linked adrenoleukodystrophy
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	2043480	\N	\N	EFO	4	EFO	Rare genetic male infertility	X-linked adrenoleukodystrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	3000366	\N	\N	EFO	5	EFO	disease	X-linked adrenoleukodystrophy
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	2043482	\N	\N	EFO	4	EFO	Inborn errors of metabolism	X-linked adrenoleukodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	5817762	\N	\N	EFO	8	EFO	disposition	X-linked adrenoleukodystrophy
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	3193709	\N	\N	EFO	5	EFO	Genetic infertility	X-linked adrenoleukodystrophy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	3193710	\N	\N	EFO	5	EFO	genetic disorder	X-linked adrenoleukodystrophy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	3193711	\N	\N	EFO	5	EFO	metabolic disease	X-linked adrenoleukodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	6410242	\N	\N	EFO	9	EFO	material property	X-linked adrenoleukodystrophy
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	4399973	\N	\N	EFO	6	EFO	genetic disorder	X-linked adrenoleukodystrophy
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	4399974	\N	\N	EFO	6	EFO	reproductive system disease	X-linked adrenoleukodystrophy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	4399976	\N	\N	EFO	6	EFO	disease	X-linked adrenoleukodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	6808077	\N	\N	EFO	10	EFO	experimental factor	X-linked adrenoleukodystrophy
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:43	"X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." []	5416790	\N	\N	EFO	7	EFO	disease	X-linked adrenoleukodystrophy
Orphanet:43115	\N	\N	"" []	Orphanet:43115	"" []	77354	\N	\N	EFO	0	EFO	Hereditary myopathy with lactic acidosis due to ISCU deficiency	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:254843	Orphanet:43115	\N	"" []	Orphanet:43115	"" []	221018	\N	\N	EFO	1	EFO	Exercise intolerance with lactic acidosis	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:98486	Orphanet:43115	\N	"" []	Orphanet:43115	"" []	221019	\N	\N	EFO	1	EFO	Metabolic myopathy	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:309136	Orphanet:254843	\N	"" []	Orphanet:43115	"" []	576853	\N	\N	EFO	2	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:43115	"" []	576854	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:43115	"" []	1160082	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:43115	"" []	1160083	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:43115	"" []	2043485	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:43115	"" []	2043486	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:43115	"" []	3193712	\N	\N	EFO	5	EFO	Mitochondrial disease	Hereditary myopathy with lactic acidosis due to ISCU deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:43115	"" []	3193713	\N	\N	EFO	5	EFO	muscular disease	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:43115	"" []	3193714	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:43115	"" []	4399977	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:43115	"" []	4399978	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Hereditary myopathy with lactic acidosis due to ISCU deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:43115	"" []	4399979	\N	\N	EFO	6	EFO	skeletal system disease	Hereditary myopathy with lactic acidosis due to ISCU deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:43115	"" []	4399980	\N	\N	EFO	6	EFO	genetic disorder	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:43115	"" []	5416791	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:43115	"" []	5416792	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Hereditary myopathy with lactic acidosis due to ISCU deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:43115	"" []	5416793	\N	\N	EFO	7	EFO	disease	Hereditary myopathy with lactic acidosis due to ISCU deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:43115	"" []	6633946	\N	\N	EFO	9	EFO	disease	Hereditary myopathy with lactic acidosis due to ISCU deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:43115	"" []	6152141	\N	\N	EFO	8	EFO	genetic disorder	Hereditary myopathy with lactic acidosis due to ISCU deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:43115	"" []	6152142	\N	\N	EFO	8	EFO	genetic disorder	Hereditary myopathy with lactic acidosis due to ISCU deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:43115	"" []	6152143	\N	\N	EFO	8	EFO	metabolic disease	Hereditary myopathy with lactic acidosis due to ISCU deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:43115	"" []	6848708	\N	\N	EFO	10	EFO	disposition	Hereditary myopathy with lactic acidosis due to ISCU deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:43115	"" []	6633947	\N	\N	EFO	9	EFO	disease	Hereditary myopathy with lactic acidosis due to ISCU deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:43115	"" []	7068512	\N	\N	EFO	11	EFO	material property	Hereditary myopathy with lactic acidosis due to ISCU deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:43115	"" []	7197172	\N	\N	EFO	12	EFO	experimental factor	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Orphanet:432	\N	\N	"" []	Orphanet:432	"" []	77355	\N	\N	EFO	0	EFO	Normosmic congenital hypogonadotropic hypogonadism	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:238666	Orphanet:432	\N	"" []	Orphanet:432	"" []	221020	\N	\N	EFO	1	EFO	Isolated congenital hypogonadotropic hypogonadism	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:174590	Orphanet:238666	\N	"" []	Orphanet:432	"" []	576855	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:399839	Orphanet:238666	\N	"" []	Orphanet:432	"" []	576856	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:432	"" []	1160084	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:432	"" []	1160085	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:432	"" []	1160086	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:432	"" []	1160087	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:432	"" []	2043487	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:432	"" []	2043488	\N	\N	EFO	4	EFO	Rare genetic male infertility	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:432	"" []	2043489	\N	\N	EFO	4	EFO	Pituitary deficiency	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:432	"" []	2043490	\N	\N	EFO	4	EFO	Rare genetic female infertility	Normosmic congenital hypogonadotropic hypogonadism
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:432	"" []	3193715	\N	\N	EFO	5	EFO	genetic disorder	Normosmic congenital hypogonadotropic hypogonadism
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:432	"" []	3193716	\N	\N	EFO	5	EFO	reproductive system disease	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:432	"" []	3193717	\N	\N	EFO	5	EFO	Genetic infertility	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:432	"" []	3193718	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:432	"" []	3193719	\N	\N	EFO	5	EFO	Genetic infertility	Normosmic congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:432	"" []	6152146	\N	\N	EFO	8	EFO	disease	Normosmic congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:432	"" []	5416797	\N	\N	EFO	7	EFO	disease	Normosmic congenital hypogonadotropic hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:432	"" []	4399983	\N	\N	EFO	6	EFO	genetic disorder	Normosmic congenital hypogonadotropic hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:432	"" []	4399984	\N	\N	EFO	6	EFO	reproductive system disease	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:432	"" []	4399985	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Normosmic congenital hypogonadotropic hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:432	"" []	6470770	\N	\N	EFO	9	EFO	disposition	Normosmic congenital hypogonadotropic hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:432	"" []	5416798	\N	\N	EFO	7	EFO	genetic disorder	Normosmic congenital hypogonadotropic hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:432	"" []	5416799	\N	\N	EFO	7	EFO	endocrine system disease	Normosmic congenital hypogonadotropic hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:432	"" []	6848709	\N	\N	EFO	10	EFO	material property	Normosmic congenital hypogonadotropic hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:432	"" []	6152147	\N	\N	EFO	8	EFO	disease	Normosmic congenital hypogonadotropic hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:432	"" []	7068513	\N	\N	EFO	11	EFO	experimental factor	Normosmic congenital hypogonadotropic hypogonadism
Orphanet:435	\N	\N	"" []	Orphanet:435	"" []	77356	\N	\N	EFO	0	EFO	Ito hypomelanosis	Ito hypomelanosis
Orphanet:166466	Orphanet:435	\N	"" []	Orphanet:435	"" []	221021	\N	\N	EFO	1	EFO	Neurocutaneous syndrome with epilepsy	Ito hypomelanosis
Orphanet:183469	Orphanet:435	\N	"" []	Orphanet:435	"" []	221022	\N	\N	EFO	1	EFO	Genetic hypopigmentation of the skin	Ito hypomelanosis
Orphanet:79373	Orphanet:435	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:435	"" []	221023	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ito hypomelanosis
Orphanet:98708	Orphanet:435	\N	"" []	Orphanet:435	"" []	221024	\N	\N	EFO	1	EFO	Pigmentation disorder with eye involvement, excluding albinism	Ito hypomelanosis
Orphanet:183512	Orphanet:166466	\N	"" []	Orphanet:435	"" []	576857	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Ito hypomelanosis
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:435	"" []	576858	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Ito hypomelanosis
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:435	"" []	576859	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ito hypomelanosis
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:435	"" []	576860	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ito hypomelanosis
Orphanet:98700	Orphanet:98708	\N	"" []	Orphanet:435	"" []	576861	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement	Ito hypomelanosis
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:435	"" []	1160088	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ito hypomelanosis
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:435	"" []	1160089	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ito hypomelanosis
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:435	"" []	1160090	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ito hypomelanosis
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:435	"" []	1160091	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ito hypomelanosis
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:435	"" []	1160092	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Ito hypomelanosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:435	"" []	2043491	\N	\N	EFO	4	EFO	genetic disorder	Ito hypomelanosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:435	"" []	2043492	\N	\N	EFO	4	EFO	genetic disorder	Ito hypomelanosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:435	"" []	2043493	\N	\N	EFO	4	EFO	skin disease	Ito hypomelanosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:435	"" []	2043494	\N	\N	EFO	4	EFO	genetic disorder	Ito hypomelanosis
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:435	"" []	2043495	\N	\N	EFO	4	EFO	Rare genetic eye disease	Ito hypomelanosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:435	"" []	4399987	\N	\N	EFO	6	EFO	disease	Ito hypomelanosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:435	"" []	3193721	\N	\N	EFO	5	EFO	disease	Ito hypomelanosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:435	"" []	3193722	\N	\N	EFO	5	EFO	genetic disorder	Ito hypomelanosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:435	"" []	3193723	\N	\N	EFO	5	EFO	eye disease	Ito hypomelanosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:435	"" []	5182995	\N	\N	EFO	7	EFO	disposition	Ito hypomelanosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:435	"" []	4399988	\N	\N	EFO	6	EFO	disease	Ito hypomelanosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:435	"" []	5998363	\N	\N	EFO	8	EFO	material property	Ito hypomelanosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:435	"" []	6551554	\N	\N	EFO	9	EFO	experimental factor	Ito hypomelanosis
Orphanet:436	\N	\N	"" []	Orphanet:436	"" []	77357	\N	\N	EFO	0	EFO	Hypophosphatasia	Hypophosphatasia
Orphanet:139009	Orphanet:436	\N	"" []	Orphanet:436	"" []	221025	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Hypophosphatasia
Orphanet:93447	Orphanet:436	\N	"" []	Orphanet:436	"" []	221026	\N	\N	EFO	1	EFO	Primary bone dysplasia with defective bone mineralization	Hypophosphatasia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:436	"" []	576862	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hypophosphatasia
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:436	"" []	576863	\N	\N	EFO	2	EFO	Primary bone dysplasia	Hypophosphatasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:436	"" []	3193727	\N	\N	EFO	5	EFO	genetic disorder	Hypophosphatasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:436	"" []	1160094	\N	\N	EFO	3	EFO	Rare genetic bone disease	Hypophosphatasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:436	"" []	1160095	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Hypophosphatasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:436	"" []	4066953	\N	\N	EFO	6	EFO	disease	Hypophosphatasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:436	"" []	2043497	\N	\N	EFO	4	EFO	genetic disorder	Hypophosphatasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:436	"" []	2043498	\N	\N	EFO	4	EFO	bone disease	Hypophosphatasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:436	"" []	2043499	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hypophosphatasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:436	"" []	5060117	\N	\N	EFO	7	EFO	disposition	Hypophosphatasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:436	"" []	3193726	\N	\N	EFO	5	EFO	skeletal system disease	Hypophosphatasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:436	"" []	5877531	\N	\N	EFO	8	EFO	material property	Hypophosphatasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:436	"" []	4399990	\N	\N	EFO	6	EFO	disease	Hypophosphatasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:436	"" []	6470771	\N	\N	EFO	9	EFO	experimental factor	Hypophosphatasia
Orphanet:437	\N	\N	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	77358	\N	\N	EFO	0	EFO	Hypophosphatemic rickets	Hypophosphatemic rickets
Orphanet:183592	Orphanet:437	\N	"" []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	221027	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Hypophosphatemic rickets
Orphanet:289098	Orphanet:437	\N	"" []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	221028	\N	\N	EFO	1	EFO	Disorders of vitamin D metabolism	Hypophosphatemic rickets
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	576864	\N	\N	EFO	2	EFO	Rare genetic renal disease	Hypophosphatemic rickets
EFO:0005596	Orphanet:289098	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	576865	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Hypophosphatemic rickets
Orphanet:183634	Orphanet:289098	\N	"" []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	576866	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Hypophosphatemic rickets
Orphanet:93447	Orphanet:289098	\N	"" []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	576867	\N	\N	EFO	2	EFO	Primary bone dysplasia with defective bone mineralization	Hypophosphatemic rickets
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	1160096	\N	\N	EFO	3	EFO	genetic disorder	Hypophosphatemic rickets
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	1160097	\N	\N	EFO	3	EFO	metabolic disease	Hypophosphatemic rickets
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	1160098	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Hypophosphatemic rickets
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	1160099	\N	\N	EFO	3	EFO	Primary bone dysplasia	Hypophosphatemic rickets
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	5416804	\N	\N	EFO	7	EFO	disease	Hypophosphatemic rickets
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	2043501	\N	\N	EFO	4	EFO	disease	Hypophosphatemic rickets
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	2043502	\N	\N	EFO	4	EFO	genetic disorder	Hypophosphatemic rickets
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	2043503	\N	\N	EFO	4	EFO	endocrine system disease	Hypophosphatemic rickets
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	2043504	\N	\N	EFO	4	EFO	Rare genetic bone disease	Hypophosphatemic rickets
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	2043505	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Hypophosphatemic rickets
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	5817763	\N	\N	EFO	8	EFO	disposition	Hypophosphatemic rickets
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	3193730	\N	\N	EFO	5	EFO	disease	Hypophosphatemic rickets
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	3193731	\N	\N	EFO	5	EFO	genetic disorder	Hypophosphatemic rickets
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	3193732	\N	\N	EFO	5	EFO	bone disease	Hypophosphatemic rickets
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	3193733	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hypophosphatemic rickets
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	6410243	\N	\N	EFO	9	EFO	material property	Hypophosphatemic rickets
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	4399993	\N	\N	EFO	6	EFO	skeletal system disease	Hypophosphatemic rickets
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	4399994	\N	\N	EFO	6	EFO	genetic disorder	Hypophosphatemic rickets
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	6808078	\N	\N	EFO	10	EFO	experimental factor	Hypophosphatemic rickets
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:437	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	5416803	\N	\N	EFO	7	EFO	disease	Hypophosphatemic rickets
Orphanet:44	\N	\N	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	77359	\N	\N	EFO	0	EFO	Neonatal adrenoleukodystrophy	Neonatal adrenoleukodystrophy
Orphanet:101960	Orphanet:44	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	221029	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	Neonatal adrenoleukodystrophy
Orphanet:79189	Orphanet:44	\N	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	221030	\N	\N	EFO	1	EFO	Peroxisome biogenesis disorder-Zellweger syndrome spectrum	Neonatal adrenoleukodystrophy
Orphanet:98713	Orphanet:44	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	221031	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Neonatal adrenoleukodystrophy
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	576868	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Neonatal adrenoleukodystrophy
Orphanet:101940	Orphanet:79189	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	576869	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Neonatal adrenoleukodystrophy
Orphanet:207018	Orphanet:79189	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	576870	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Neonatal adrenoleukodystrophy
Orphanet:68356	Orphanet:79189	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	576871	\N	\N	EFO	2	EFO	Leukodystrophy	Neonatal adrenoleukodystrophy
Orphanet:68373	Orphanet:79189	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	576872	\N	\N	EFO	2	EFO	Peroxisomal disease	Neonatal adrenoleukodystrophy
Orphanet:68385	Orphanet:79189	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	576873	\N	\N	EFO	2	EFO	Neurometabolic disease	Neonatal adrenoleukodystrophy
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	576874	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Neonatal adrenoleukodystrophy
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	1160100	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Neonatal adrenoleukodystrophy
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	1160101	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Neonatal adrenoleukodystrophy
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	1160102	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Neonatal adrenoleukodystrophy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	1160103	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neonatal adrenoleukodystrophy
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	1160104	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Neonatal adrenoleukodystrophy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	1160105	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neonatal adrenoleukodystrophy
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	1160106	\N	\N	EFO	3	EFO	Rare genetic eye disease	Neonatal adrenoleukodystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	2043506	\N	\N	EFO	4	EFO	genetic disorder	Neonatal adrenoleukodystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	2043507	\N	\N	EFO	4	EFO	endocrine system disease	Neonatal adrenoleukodystrophy
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	2043508	\N	\N	EFO	4	EFO	digestive system disease	Neonatal adrenoleukodystrophy
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	2043509	\N	\N	EFO	4	EFO	genetic disorder	Neonatal adrenoleukodystrophy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	2043510	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Neonatal adrenoleukodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	4399996	\N	\N	EFO	6	EFO	genetic disorder	Neonatal adrenoleukodystrophy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	2043512	\N	\N	EFO	4	EFO	genetic disorder	Neonatal adrenoleukodystrophy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	2043513	\N	\N	EFO	4	EFO	metabolic disease	Neonatal adrenoleukodystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	2043514	\N	\N	EFO	4	EFO	genetic disorder	Neonatal adrenoleukodystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	2043515	\N	\N	EFO	4	EFO	eye disease	Neonatal adrenoleukodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	5060119	\N	\N	EFO	7	EFO	disease	Neonatal adrenoleukodystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	3193735	\N	\N	EFO	5	EFO	disease	Neonatal adrenoleukodystrophy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	3193736	\N	\N	EFO	5	EFO	disease	Neonatal adrenoleukodystrophy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	3193737	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Neonatal adrenoleukodystrophy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	3193738	\N	\N	EFO	5	EFO	disease	Neonatal adrenoleukodystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	3193739	\N	\N	EFO	5	EFO	disease	Neonatal adrenoleukodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	5877533	\N	\N	EFO	8	EFO	disposition	Neonatal adrenoleukodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	6470773	\N	\N	EFO	9	EFO	material property	Neonatal adrenoleukodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:44	"Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." []	6848710	\N	\N	EFO	10	EFO	experimental factor	Neonatal adrenoleukodystrophy
Orphanet:440	\N	\N	"" []	Orphanet:440	"" []	77360	\N	\N	EFO	0	EFO	Familial hypospadias	Familial hypospadias
Orphanet:156622	Orphanet:440	\N	"" []	Orphanet:440	"" []	221032	\N	\N	EFO	1	EFO	Genetic urogenital tract malformation	Familial hypospadias
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:440	"" []	576875	\N	\N	EFO	2	EFO	Rare genetic urogenital disease	Familial hypospadias
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:440	"" []	1160107	\N	\N	EFO	3	EFO	genetic disorder	Familial hypospadias
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:440	"" []	2043516	\N	\N	EFO	4	EFO	disease	Familial hypospadias
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:440	"" []	3193740	\N	\N	EFO	5	EFO	disposition	Familial hypospadias
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:440	"" []	4399997	\N	\N	EFO	6	EFO	material property	Familial hypospadias
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:440	"" []	5416806	\N	\N	EFO	7	EFO	experimental factor	Familial hypospadias
Orphanet:442	\N	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	77361	\N	\N	EFO	0	EFO	Congenital hypothyroidism	Congenital hypothyroidism
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	221033	\N	\N	EFO	1	EFO	Rare hypothyroidism	Congenital hypothyroidism
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	576876	\N	\N	EFO	2	EFO	Rare genetic thyroid disease	Congenital hypothyroidism
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	1160108	\N	\N	EFO	3	EFO	thyroid disease	Congenital hypothyroidism
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	1160109	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Congenital hypothyroidism
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	2043517	\N	\N	EFO	4	EFO	endocrine system disease	Congenital hypothyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	2043518	\N	\N	EFO	4	EFO	genetic disorder	Congenital hypothyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	2043519	\N	\N	EFO	4	EFO	endocrine system disease	Congenital hypothyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	3193741	\N	\N	EFO	5	EFO	disease	Congenital hypothyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	3193742	\N	\N	EFO	5	EFO	disease	Congenital hypothyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	4399998	\N	\N	EFO	6	EFO	disposition	Congenital hypothyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	5416807	\N	\N	EFO	7	EFO	material property	Congenital hypothyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:442	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	6152150	\N	\N	EFO	8	EFO	experimental factor	Congenital hypothyroidism
Orphanet:444	\N	\N	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	Orphanet:444	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	77362	\N	\N	EFO	0	EFO	Marie Unna hereditary hypotrichosis	Marie Unna hereditary hypotrichosis
Orphanet:79364	Orphanet:444	\N	"" []	Orphanet:444	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	221034	\N	\N	EFO	1	EFO	Alopecia	Marie Unna hereditary hypotrichosis
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:444	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	576877	\N	\N	EFO	2	EFO	Genetic hair anomaly	Marie Unna hereditary hypotrichosis
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:444	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	1160110	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Marie Unna hereditary hypotrichosis
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:444	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	2043520	\N	\N	EFO	4	EFO	Rare genetic skin disease	Marie Unna hereditary hypotrichosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:444	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	3193743	\N	\N	EFO	5	EFO	genetic disorder	Marie Unna hereditary hypotrichosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:444	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	3193744	\N	\N	EFO	5	EFO	skin disease	Marie Unna hereditary hypotrichosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:444	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	4399999	\N	\N	EFO	6	EFO	disease	Marie Unna hereditary hypotrichosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:444	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	4400000	\N	\N	EFO	6	EFO	disease	Marie Unna hereditary hypotrichosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:444	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	5416808	\N	\N	EFO	7	EFO	disposition	Marie Unna hereditary hypotrichosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:444	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	6152151	\N	\N	EFO	8	EFO	material property	Marie Unna hereditary hypotrichosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:444	"Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." []	6633950	\N	\N	EFO	9	EFO	experimental factor	Marie Unna hereditary hypotrichosis
Orphanet:446	\N	\N	"" []	Orphanet:446	"" []	77363	\N	\N	EFO	0	EFO	Neonatal hemochromatosis	Neonatal hemochromatosis
Orphanet:101940	Orphanet:446	\N	"" []	Orphanet:446	"" []	221035	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Neonatal hemochromatosis
Orphanet:309842	Orphanet:446	\N	"" []	Orphanet:446	"" []	221036	\N	\N	EFO	1	EFO	Disorder of iron metabolism and transport	Neonatal hemochromatosis
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:446	"" []	576878	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Neonatal hemochromatosis
Orphanet:309836	Orphanet:309842	\N	"" []	Orphanet:446	"" []	576879	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Neonatal hemochromatosis
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:446	"" []	1160111	\N	\N	EFO	3	EFO	digestive system disease	Neonatal hemochromatosis
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:446	"" []	1160112	\N	\N	EFO	3	EFO	genetic disorder	Neonatal hemochromatosis
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:446	"" []	1160113	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Neonatal hemochromatosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:446	"" []	2043521	\N	\N	EFO	4	EFO	disease	Neonatal hemochromatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:446	"" []	4400002	\N	\N	EFO	6	EFO	disease	Neonatal hemochromatosis
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:446	"" []	2043523	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Neonatal hemochromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:446	"" []	5060120	\N	\N	EFO	7	EFO	disposition	Neonatal hemochromatosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:446	"" []	3193746	\N	\N	EFO	5	EFO	genetic disorder	Neonatal hemochromatosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:446	"" []	3193747	\N	\N	EFO	5	EFO	metabolic disease	Neonatal hemochromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:446	"" []	5877534	\N	\N	EFO	8	EFO	material property	Neonatal hemochromatosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:446	"" []	4400003	\N	\N	EFO	6	EFO	disease	Neonatal hemochromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:446	"" []	6470774	\N	\N	EFO	9	EFO	experimental factor	Neonatal hemochromatosis
Orphanet:447	\N	\N	"" []	Orphanet:447	"" []	77364	\N	\N	EFO	0	EFO	Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria
Orphanet:158300	Orphanet:447	\N	"" []	Orphanet:447	"" []	221037	\N	\N	EFO	1	EFO	Rare genetic hematologic disease	Paroxysmal nocturnal hemoglobinuria
Orphanet:309515	Orphanet:447	\N	"" []	Orphanet:447	"" []	221038	\N	\N	EFO	1	EFO	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	Paroxysmal nocturnal hemoglobinuria
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:447	"" []	576880	\N	\N	EFO	2	EFO	genetic disorder	Paroxysmal nocturnal hemoglobinuria
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:447	"" []	576881	\N	\N	EFO	2	EFO	hematological system disease	Paroxysmal nocturnal hemoglobinuria
Orphanet:137	Orphanet:309515	\N	"" []	Orphanet:447	"" []	576882	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Paroxysmal nocturnal hemoglobinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:447	"" []	3193749	\N	\N	EFO	5	EFO	disease	Paroxysmal nocturnal hemoglobinuria
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:447	"" []	1160115	\N	\N	EFO	3	EFO	disease	Paroxysmal nocturnal hemoglobinuria
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:447	"" []	1160116	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Paroxysmal nocturnal hemoglobinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:447	"" []	4066954	\N	\N	EFO	6	EFO	disposition	Paroxysmal nocturnal hemoglobinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:447	"" []	2043525	\N	\N	EFO	4	EFO	genetic disorder	Paroxysmal nocturnal hemoglobinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:447	"" []	2043526	\N	\N	EFO	4	EFO	metabolic disease	Paroxysmal nocturnal hemoglobinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:447	"" []	5060121	\N	\N	EFO	7	EFO	material property	Paroxysmal nocturnal hemoglobinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:447	"" []	3193750	\N	\N	EFO	5	EFO	disease	Paroxysmal nocturnal hemoglobinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:447	"" []	5877535	\N	\N	EFO	8	EFO	experimental factor	Paroxysmal nocturnal hemoglobinuria
Orphanet:448	\N	\N	"" []	Orphanet:448	"" []	77365	\N	\N	EFO	0	EFO	Hemophilia	Hemophilia
Orphanet:68334	Orphanet:448	\N	"" []	Orphanet:448	"" []	221039	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Hemophilia
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:448	"" []	576883	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Hemophilia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:448	"" []	1160117	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Hemophilia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:448	"" []	2043527	\N	\N	EFO	4	EFO	genetic disorder	Hemophilia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:448	"" []	2043528	\N	\N	EFO	4	EFO	hematological system disease	Hemophilia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:448	"" []	3193751	\N	\N	EFO	5	EFO	disease	Hemophilia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:448	"" []	3193752	\N	\N	EFO	5	EFO	disease	Hemophilia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:448	"" []	4400005	\N	\N	EFO	6	EFO	disposition	Hemophilia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:448	"" []	5416810	\N	\N	EFO	7	EFO	material property	Hemophilia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:448	"" []	6152152	\N	\N	EFO	8	EFO	experimental factor	Hemophilia
Orphanet:44890	\N	\N	"" []	Orphanet:44890	"" []	77366	\N	\N	EFO	0	EFO	Gastrointestinal stromal tumor	Gastrointestinal stromal tumor
Orphanet:271835	Orphanet:44890	\N	"" []	Orphanet:44890	"" []	221040	\N	\N	EFO	1	EFO	Genetic digestive tract tumor	Gastrointestinal stromal tumor
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:44890	"" []	576884	\N	\N	EFO	2	EFO	digestive system disease	Gastrointestinal stromal tumor
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:44890	"" []	576885	\N	\N	EFO	2	EFO	Rare genetic tumor	Gastrointestinal stromal tumor
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:44890	"" []	1160118	\N	\N	EFO	3	EFO	disease	Gastrointestinal stromal tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:44890	"" []	1160119	\N	\N	EFO	3	EFO	genetic disorder	Gastrointestinal stromal tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:44890	"" []	1160120	\N	\N	EFO	3	EFO	neoplasm	Gastrointestinal stromal tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:44890	"" []	3193754	\N	\N	EFO	5	EFO	disposition	Gastrointestinal stromal tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:44890	"" []	2043530	\N	\N	EFO	4	EFO	disease	Gastrointestinal stromal tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:44890	"" []	2043531	\N	\N	EFO	4	EFO	disease	Gastrointestinal stromal tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:44890	"" []	4134101	\N	\N	EFO	6	EFO	material property	Gastrointestinal stromal tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:44890	"" []	5182998	\N	\N	EFO	7	EFO	experimental factor	Gastrointestinal stromal tumor
Orphanet:45	\N	\N	"" []	Orphanet:45	"" []	77367	\N	\N	EFO	0	EFO	Adenosine monophosphate deaminase deficiency	Adenosine monophosphate deaminase deficiency
Orphanet:206966	Orphanet:45	\N	"" []	Orphanet:45	"" []	221041	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Adenosine monophosphate deaminase deficiency
Orphanet:79191	Orphanet:45	\N	"" []	Orphanet:45	"" []	221042	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Adenosine monophosphate deaminase deficiency
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:45	"" []	576886	\N	\N	EFO	2	EFO	Muscular lipidosis	Adenosine monophosphate deaminase deficiency
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:45	"" []	576887	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Adenosine monophosphate deaminase deficiency
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:45	"" []	1160121	\N	\N	EFO	3	EFO	Metabolic myopathy	Adenosine monophosphate deaminase deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:45	"" []	1160122	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Adenosine monophosphate deaminase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:45	"" []	2043532	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Adenosine monophosphate deaminase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:45	"" []	2043533	\N	\N	EFO	4	EFO	genetic disorder	Adenosine monophosphate deaminase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:45	"" []	2043534	\N	\N	EFO	4	EFO	metabolic disease	Adenosine monophosphate deaminase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:45	"" []	3193755	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Adenosine monophosphate deaminase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:45	"" []	6633952	\N	\N	EFO	9	EFO	disease	Adenosine monophosphate deaminase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:45	"" []	3193757	\N	\N	EFO	5	EFO	disease	Adenosine monophosphate deaminase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:45	"" []	4400007	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Adenosine monophosphate deaminase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:45	"" []	6778776	\N	\N	EFO	10	EFO	disposition	Adenosine monophosphate deaminase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:45	"" []	5416811	\N	\N	EFO	7	EFO	muscular disease	Adenosine monophosphate deaminase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:45	"" []	5416812	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Adenosine monophosphate deaminase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:45	"" []	7029973	\N	\N	EFO	11	EFO	material property	Adenosine monophosphate deaminase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:45	"" []	6152153	\N	\N	EFO	8	EFO	skeletal system disease	Adenosine monophosphate deaminase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:45	"" []	6152154	\N	\N	EFO	8	EFO	genetic disorder	Adenosine monophosphate deaminase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:45	"" []	7181812	\N	\N	EFO	12	EFO	experimental factor	Adenosine monophosphate deaminase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:45	"" []	6633951	\N	\N	EFO	9	EFO	disease	Adenosine monophosphate deaminase deficiency
Orphanet:452	\N	\N	"" []	Orphanet:452	"" []	77368	\N	\N	EFO	0	EFO	X-linked lissencephaly with abnormal genitalia	X-linked lissencephaly with abnormal genitalia
Orphanet:102010	Orphanet:452	\N	"" []	Orphanet:452	"" []	221043	\N	\N	EFO	1	EFO	Other syndrome with lissencephaly as a major feature	X-linked lissencephaly with abnormal genitalia
Orphanet:182079	Orphanet:452	\N	"" []	Orphanet:452	"" []	221044	\N	\N	EFO	1	EFO	ARX-related epileptic encephalopathy	X-linked lissencephaly with abnormal genitalia
Orphanet:269573	Orphanet:452	\N	"" []	Orphanet:452	"" []	221045	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	X-linked lissencephaly with abnormal genitalia
Orphanet:98087	Orphanet:452	\N	"" []	Orphanet:452	"" []	221046	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	X-linked lissencephaly with abnormal genitalia
Orphanet:98464	Orphanet:452	\N	"" []	Orphanet:452	"" []	221047	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked lissencephaly with abnormal genitalia
Orphanet:48471	Orphanet:102010	\N	"" []	Orphanet:452	"" []	576888	\N	\N	EFO	2	EFO	Lissencephaly	X-linked lissencephaly with abnormal genitalia
Orphanet:166472	Orphanet:182079	\N	"" []	Orphanet:452	"" []	576889	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	X-linked lissencephaly with abnormal genitalia
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:452	"" []	576890	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	X-linked lissencephaly with abnormal genitalia
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:452	"" []	576891	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	X-linked lissencephaly with abnormal genitalia
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:452	"" []	576892	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked lissencephaly with abnormal genitalia
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:452	"" []	1160123	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	X-linked lissencephaly with abnormal genitalia
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:452	"" []	1160124	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked lissencephaly with abnormal genitalia
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:452	"" []	1160125	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	X-linked lissencephaly with abnormal genitalia
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:452	"" []	1160126	\N	\N	EFO	3	EFO	Rare genetic epilepsy	X-linked lissencephaly with abnormal genitalia
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:452	"" []	2043537	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	X-linked lissencephaly with abnormal genitalia
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:452	"" []	1160128	\N	\N	EFO	3	EFO	Genetic disorder of sex development	X-linked lissencephaly with abnormal genitalia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:452	"" []	2043536	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked lissencephaly with abnormal genitalia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:452	"" []	2043535	\N	\N	EFO	4	EFO	Rare genetic epilepsy	X-linked lissencephaly with abnormal genitalia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:452	"" []	3193758	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked lissencephaly with abnormal genitalia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:452	"" []	3000367	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked lissencephaly with abnormal genitalia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:452	"" []	3000368	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked lissencephaly with abnormal genitalia
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:452	"" []	2043541	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	X-linked lissencephaly with abnormal genitalia
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:452	"" []	2043542	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	X-linked lissencephaly with abnormal genitalia
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:452	"" []	2043543	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked lissencephaly with abnormal genitalia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:452	"" []	3000369	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked lissencephaly with abnormal genitalia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:452	"" []	4134102	\N	\N	EFO	6	EFO	genetic disorder	X-linked lissencephaly with abnormal genitalia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:452	"" []	4134103	\N	\N	EFO	6	EFO	genetic disorder	X-linked lissencephaly with abnormal genitalia
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:452	"" []	3193761	\N	\N	EFO	5	EFO	genetic disorder	X-linked lissencephaly with abnormal genitalia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:452	"" []	3193762	\N	\N	EFO	5	EFO	genetic disorder	X-linked lissencephaly with abnormal genitalia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:452	"" []	3193763	\N	\N	EFO	5	EFO	endocrine system disease	X-linked lissencephaly with abnormal genitalia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:452	"" []	5182999	\N	\N	EFO	7	EFO	disease	X-linked lissencephaly with abnormal genitalia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:452	"" []	4400010	\N	\N	EFO	6	EFO	disease	X-linked lissencephaly with abnormal genitalia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:452	"" []	5998366	\N	\N	EFO	8	EFO	disposition	X-linked lissencephaly with abnormal genitalia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:452	"" []	6551555	\N	\N	EFO	9	EFO	material property	X-linked lissencephaly with abnormal genitalia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:452	"" []	6889477	\N	\N	EFO	10	EFO	experimental factor	X-linked lissencephaly with abnormal genitalia
Orphanet:45358	\N	\N	"" []	Orphanet:45358	"" []	77369	\N	\N	EFO	0	EFO	Congenital fibrosis of extraocular muscles	Congenital fibrosis of extraocular muscles
Orphanet:206644	Orphanet:45358	\N	"" []	Orphanet:45358	"" []	221048	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	Congenital fibrosis of extraocular muscles
Orphanet:98578	Orphanet:45358	\N	"" []	Orphanet:45358	"" []	221049	\N	\N	EFO	1	EFO	Ptosis	Congenital fibrosis of extraocular muscles
Orphanet:98683	Orphanet:45358	\N	"" []	Orphanet:45358	"" []	221050	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Congenital fibrosis of extraocular muscles
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:45358	"" []	576893	\N	\N	EFO	2	EFO	Muscular dystrophy	Congenital fibrosis of extraocular muscles
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:45358	"" []	576894	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Congenital fibrosis of extraocular muscles
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:45358	"" []	576895	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Congenital fibrosis of extraocular muscles
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:45358	"" []	1160130	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital fibrosis of extraocular muscles
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:45358	"" []	1160131	\N	\N	EFO	3	EFO	Rare palpebral disease	Congenital fibrosis of extraocular muscles
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:45358	"" []	1160132	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Congenital fibrosis of extraocular muscles
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:45358	"" []	2043545	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital fibrosis of extraocular muscles
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:45358	"" []	2043546	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital fibrosis of extraocular muscles
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:45358	"" []	2043547	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital fibrosis of extraocular muscles
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:45358	"" []	3193764	\N	\N	EFO	5	EFO	muscular disease	Congenital fibrosis of extraocular muscles
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:45358	"" []	3193765	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital fibrosis of extraocular muscles
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:45358	"" []	3193766	\N	\N	EFO	5	EFO	Rare genetic eye disease	Congenital fibrosis of extraocular muscles
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:45358	"" []	4400013	\N	\N	EFO	6	EFO	genetic disorder	Congenital fibrosis of extraocular muscles
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:45358	"" []	4400014	\N	\N	EFO	6	EFO	eye disease	Congenital fibrosis of extraocular muscles
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:45358	"" []	4400011	\N	\N	EFO	6	EFO	skeletal system disease	Congenital fibrosis of extraocular muscles
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:45358	"" []	4400012	\N	\N	EFO	6	EFO	genetic disorder	Congenital fibrosis of extraocular muscles
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:45358	"" []	5183000	\N	\N	EFO	7	EFO	disease	Congenital fibrosis of extraocular muscles
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:45358	"" []	5183001	\N	\N	EFO	7	EFO	disease	Congenital fibrosis of extraocular muscles
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:45358	"" []	5416815	\N	\N	EFO	7	EFO	disease	Congenital fibrosis of extraocular muscles
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:45358	"" []	5998367	\N	\N	EFO	8	EFO	disposition	Congenital fibrosis of extraocular muscles
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:45358	"" []	6551556	\N	\N	EFO	9	EFO	material property	Congenital fibrosis of extraocular muscles
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:45358	"" []	6889478	\N	\N	EFO	10	EFO	experimental factor	Congenital fibrosis of extraocular muscles
Orphanet:45448	\N	\N	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	77370	\N	\N	EFO	0	EFO	Miyoshi myopathy	Miyoshi myopathy
Orphanet:206653	Orphanet:45448	\N	"" []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	221051	\N	\N	EFO	1	EFO	Autosomal recessive distal myopathy	Miyoshi myopathy
Orphanet:207073	Orphanet:45448	\N	"" []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	221052	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of dysferlin	Miyoshi myopathy
Orphanet:599	Orphanet:206653	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	576896	\N	\N	EFO	2	EFO	Distal myopathy	Miyoshi myopathy
Orphanet:207049	Orphanet:207073	\N	"" []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	576897	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Miyoshi myopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	1160133	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Miyoshi myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	1160134	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Miyoshi myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	2043548	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Miyoshi myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	3193769	\N	\N	EFO	5	EFO	muscular disease	Miyoshi myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	3193770	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Miyoshi myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	4134104	\N	\N	EFO	6	EFO	skeletal system disease	Miyoshi myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	4134105	\N	\N	EFO	6	EFO	genetic disorder	Miyoshi myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	5183002	\N	\N	EFO	7	EFO	disease	Miyoshi myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	5183003	\N	\N	EFO	7	EFO	disease	Miyoshi myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	5998368	\N	\N	EFO	8	EFO	disposition	Miyoshi myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	6551557	\N	\N	EFO	9	EFO	material property	Miyoshi myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:45448	"Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." []	6889479	\N	\N	EFO	10	EFO	experimental factor	Miyoshi myopathy
Orphanet:455	\N	\N	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	77371	\N	\N	EFO	0	EFO	Superficial epidermolytic ichthyosis	Superficial epidermolytic ichthyosis
Orphanet:281103	Orphanet:455	\N	"" []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	221053	\N	\N	EFO	1	EFO	Keratinopathic ichthyosis	Superficial epidermolytic ichthyosis
Orphanet:281082	Orphanet:281103	\N	"" []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	576898	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Superficial epidermolytic ichthyosis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	1160135	\N	\N	EFO	3	EFO	Inherited ichthyosis	Superficial epidermolytic ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	2043551	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Superficial epidermolytic ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	3193773	\N	\N	EFO	5	EFO	Rare genetic skin disease	Superficial epidermolytic ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	4400019	\N	\N	EFO	6	EFO	genetic disorder	Superficial epidermolytic ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	4400020	\N	\N	EFO	6	EFO	skin disease	Superficial epidermolytic ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	5416818	\N	\N	EFO	7	EFO	disease	Superficial epidermolytic ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	5416819	\N	\N	EFO	7	EFO	disease	Superficial epidermolytic ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	6152159	\N	\N	EFO	8	EFO	disposition	Superficial epidermolytic ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	6633956	\N	\N	EFO	9	EFO	material property	Superficial epidermolytic ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:455	"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." []	6926192	\N	\N	EFO	10	EFO	experimental factor	Superficial epidermolytic ichthyosis
Orphanet:457	\N	\N	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	77372	\N	\N	EFO	0	EFO	Harlequin ichthyosis	Harlequin ichthyosis
Orphanet:281097	Orphanet:457	\N	"" []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	221054	\N	\N	EFO	1	EFO	Autosomal recessive congenital ichthyosis	Harlequin ichthyosis
Orphanet:281082	Orphanet:281097	\N	"" []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	576899	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Harlequin ichthyosis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	1160136	\N	\N	EFO	3	EFO	Inherited ichthyosis	Harlequin ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	2043552	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Harlequin ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	3193774	\N	\N	EFO	5	EFO	Rare genetic skin disease	Harlequin ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	4400021	\N	\N	EFO	6	EFO	genetic disorder	Harlequin ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	4400022	\N	\N	EFO	6	EFO	skin disease	Harlequin ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	5416820	\N	\N	EFO	7	EFO	disease	Harlequin ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	5416821	\N	\N	EFO	7	EFO	disease	Harlequin ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	6152160	\N	\N	EFO	8	EFO	disposition	Harlequin ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	6633957	\N	\N	EFO	9	EFO	material property	Harlequin ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:457	"Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." []	6926193	\N	\N	EFO	10	EFO	experimental factor	Harlequin ichthyosis
Orphanet:46	\N	\N	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	77373	\N	\N	EFO	0	EFO	Adenylosuccinate lyase deficiency	Adenylosuccinate lyase deficiency
Orphanet:180772	Orphanet:46	\N	"" []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	221055	\N	\N	EFO	1	EFO	Rare disease with autism	Adenylosuccinate lyase deficiency
Orphanet:182073	Orphanet:46	\N	"" []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	221056	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Adenylosuccinate lyase deficiency
Orphanet:79191	Orphanet:46	\N	"" []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	221057	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Adenylosuccinate lyase deficiency
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	576900	\N	\N	EFO	2	EFO	Rare pervasive developmental disorder	Adenylosuccinate lyase deficiency
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	576901	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Adenylosuccinate lyase deficiency
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	576902	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Adenylosuccinate lyase deficiency
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	1160137	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Adenylosuccinate lyase deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	1160138	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Adenylosuccinate lyase deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	1160139	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Adenylosuccinate lyase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	3193776	\N	\N	EFO	5	EFO	genetic disorder	Adenylosuccinate lyase deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	2043554	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Adenylosuccinate lyase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	2043555	\N	\N	EFO	4	EFO	genetic disorder	Adenylosuccinate lyase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	2043556	\N	\N	EFO	4	EFO	metabolic disease	Adenylosuccinate lyase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	4134106	\N	\N	EFO	6	EFO	disease	Adenylosuccinate lyase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	3193777	\N	\N	EFO	5	EFO	disease	Adenylosuccinate lyase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	5183004	\N	\N	EFO	7	EFO	disposition	Adenylosuccinate lyase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	5998369	\N	\N	EFO	8	EFO	material property	Adenylosuccinate lyase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:46	"Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." []	6551558	\N	\N	EFO	9	EFO	experimental factor	Adenylosuccinate lyase deficiency
Orphanet:46059	\N	\N	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	77374	\N	\N	EFO	0	EFO	Lathosterolosis	Lathosterolosis
Orphanet:79195	Orphanet:46059	\N	"" []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	221058	\N	\N	EFO	1	EFO	Sterol biosynthesis disorder	Lathosterolosis
Orphanet:139009	Orphanet:79195	\N	"" []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	576903	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Lathosterolosis
Orphanet:79226	Orphanet:79195	\N	"" []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	576904	\N	\N	EFO	2	EFO	Sterol metabolism disorder	Lathosterolosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	1160140	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lathosterolosis
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	1160141	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Lathosterolosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	2043557	\N	\N	EFO	4	EFO	genetic disorder	Lathosterolosis
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	2043558	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Lathosterolosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	4400025	\N	\N	EFO	6	EFO	disease	Lathosterolosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	3193779	\N	\N	EFO	5	EFO	genetic disorder	Lathosterolosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	3193780	\N	\N	EFO	5	EFO	metabolic disease	Lathosterolosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	5183005	\N	\N	EFO	7	EFO	disposition	Lathosterolosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	4400026	\N	\N	EFO	6	EFO	disease	Lathosterolosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	5998370	\N	\N	EFO	8	EFO	material property	Lathosterolosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:46059	"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." []	6551559	\N	\N	EFO	9	EFO	experimental factor	Lathosterolosis
Orphanet:461	\N	\N	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	77375	\N	\N	EFO	0	EFO	Recessive X-linked ichthyosis	Recessive X-linked ichthyosis
Orphanet:281082	Orphanet:461	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	221059	\N	\N	EFO	1	EFO	Inherited non-syndromic ichthyosis	Recessive X-linked ichthyosis
Orphanet:98628	Orphanet:461	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	221060	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	Recessive X-linked ichthyosis
Orphanet:98698	Orphanet:461	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	221061	\N	\N	EFO	1	EFO	Ichthyosis associated with ocular features	Recessive X-linked ichthyosis
Orphanet:98711	Orphanet:461	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	221062	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Recessive X-linked ichthyosis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	576905	\N	\N	EFO	2	EFO	Inherited ichthyosis	Recessive X-linked ichthyosis
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	576906	\N	\N	EFO	2	EFO	Corneal dystrophy	Recessive X-linked ichthyosis
Orphanet:98697	Orphanet:98698	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	576907	\N	\N	EFO	2	EFO	Genetic keratinization disorder associated with ocular features	Recessive X-linked ichthyosis
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	576908	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Recessive X-linked ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	1160142	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Recessive X-linked ichthyosis
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	1160143	\N	\N	EFO	3	EFO	Rare genetic eye disease	Recessive X-linked ichthyosis
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	1160144	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Recessive X-linked ichthyosis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	1160145	\N	\N	EFO	3	EFO	Rare genetic eye disease	Recessive X-linked ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	2043559	\N	\N	EFO	4	EFO	Rare genetic skin disease	Recessive X-linked ichthyosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	3193785	\N	\N	EFO	5	EFO	genetic disorder	Recessive X-linked ichthyosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	3193786	\N	\N	EFO	5	EFO	eye disease	Recessive X-linked ichthyosis
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	2043562	\N	\N	EFO	4	EFO	Rare genetic eye disease	Recessive X-linked ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	3193781	\N	\N	EFO	5	EFO	genetic disorder	Recessive X-linked ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	3193782	\N	\N	EFO	5	EFO	skin disease	Recessive X-linked ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	4134107	\N	\N	EFO	6	EFO	disease	Recessive X-linked ichthyosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	4134108	\N	\N	EFO	6	EFO	disease	Recessive X-linked ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	4400027	\N	\N	EFO	6	EFO	disease	Recessive X-linked ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	5183006	\N	\N	EFO	7	EFO	disposition	Recessive X-linked ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	5998371	\N	\N	EFO	8	EFO	material property	Recessive X-linked ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:461	"Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." []	6551560	\N	\N	EFO	9	EFO	experimental factor	Recessive X-linked ichthyosis
Orphanet:46348	\N	\N	"" []	Orphanet:46348	"" []	77376	\N	\N	EFO	0	EFO	Paroxysmal extreme pain disorder	Paroxysmal extreme pain disorder
Orphanet:71859	Orphanet:46348	\N	"" []	Orphanet:46348	"" []	221063	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Paroxysmal extreme pain disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:46348	"" []	576909	\N	\N	EFO	2	EFO	genetic disorder	Paroxysmal extreme pain disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:46348	"" []	1160146	\N	\N	EFO	3	EFO	disease	Paroxysmal extreme pain disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:46348	"" []	2043563	\N	\N	EFO	4	EFO	disposition	Paroxysmal extreme pain disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:46348	"" []	3193787	\N	\N	EFO	5	EFO	material property	Paroxysmal extreme pain disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:46348	"" []	4400029	\N	\N	EFO	6	EFO	experimental factor	Paroxysmal extreme pain disorder
Orphanet:464	\N	\N	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	77377	\N	\N	EFO	0	EFO	Incontinentia pigmenti	Incontinentia pigmenti
Orphanet:166466	Orphanet:464	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	221064	\N	\N	EFO	1	EFO	Neurocutaneous syndrome with epilepsy	Incontinentia pigmenti
Orphanet:79373	Orphanet:464	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	221065	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Incontinentia pigmenti
Orphanet:98464	Orphanet:464	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	221066	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Incontinentia pigmenti
Orphanet:98583	Orphanet:464	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	221067	\N	\N	EFO	1	EFO	Precancerous lesion of palpebral epidermis	Incontinentia pigmenti
Orphanet:98649	Orphanet:464	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	221068	\N	\N	EFO	1	EFO	Dentocutaneous disease with cataract	Incontinentia pigmenti
Orphanet:98669	Orphanet:464	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	221069	\N	\N	EFO	1	EFO	Congenital vitreoretinal dysplasia	Incontinentia pigmenti
Orphanet:98708	Orphanet:464	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	221070	\N	\N	EFO	1	EFO	Pigmentation disorder with eye involvement, excluding albinism	Incontinentia pigmenti
Orphanet:183512	Orphanet:166466	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	576910	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Incontinentia pigmenti
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	576911	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Incontinentia pigmenti
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	576912	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Incontinentia pigmenti
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	576913	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Incontinentia pigmenti
Orphanet:98580	Orphanet:98583	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	576914	\N	\N	EFO	2	EFO	Palpebral tumor	Incontinentia pigmenti
Orphanet:98643	Orphanet:98649	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	576915	\N	\N	EFO	2	EFO	Systemic disease with cataract	Incontinentia pigmenti
Orphanet:98668	Orphanet:98669	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	576916	\N	\N	EFO	2	EFO	Vitreoretinopathy	Incontinentia pigmenti
Orphanet:98700	Orphanet:98708	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	576917	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement	Incontinentia pigmenti
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	1160147	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Incontinentia pigmenti
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	1160148	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Incontinentia pigmenti
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	1160149	\N	\N	EFO	3	EFO	Rare genetic skin disease	Incontinentia pigmenti
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	1160150	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Incontinentia pigmenti
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	1160151	\N	\N	EFO	3	EFO	Rare palpebral disease	Incontinentia pigmenti
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	1160152	\N	\N	EFO	3	EFO	Syndromic cataract	Incontinentia pigmenti
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	1160153	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Incontinentia pigmenti
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	1160154	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Incontinentia pigmenti
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	3193790	\N	\N	EFO	5	EFO	genetic disorder	Incontinentia pigmenti
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	2043565	\N	\N	EFO	4	EFO	genetic disorder	Incontinentia pigmenti
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	2043566	\N	\N	EFO	4	EFO	genetic disorder	Incontinentia pigmenti
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	2043567	\N	\N	EFO	4	EFO	skin disease	Incontinentia pigmenti
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	2043568	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Incontinentia pigmenti
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	2043569	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Incontinentia pigmenti
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	2043570	\N	\N	EFO	4	EFO	Rare cataract	Incontinentia pigmenti
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	2043571	\N	\N	EFO	4	EFO	Rare genetic eye disease	Incontinentia pigmenti
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	2043572	\N	\N	EFO	4	EFO	Rare genetic eye disease	Incontinentia pigmenti
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	5877537	\N	\N	EFO	8	EFO	disease	Incontinentia pigmenti
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	3193789	\N	\N	EFO	5	EFO	disease	Incontinentia pigmenti
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	3193791	\N	\N	EFO	5	EFO	Rare genetic eye disease	Incontinentia pigmenti
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	3193792	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Incontinentia pigmenti
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	5416826	\N	\N	EFO	7	EFO	genetic disorder	Incontinentia pigmenti
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	5416827	\N	\N	EFO	7	EFO	eye disease	Incontinentia pigmenti
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	6410244	\N	\N	EFO	9	EFO	disposition	Incontinentia pigmenti
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	4400033	\N	\N	EFO	6	EFO	Rare genetic eye disease	Incontinentia pigmenti
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	5877538	\N	\N	EFO	8	EFO	disease	Incontinentia pigmenti
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	6808079	\N	\N	EFO	10	EFO	material property	Incontinentia pigmenti
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:464	"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." []	7048766	\N	\N	EFO	11	EFO	experimental factor	Incontinentia pigmenti
Orphanet:465	\N	\N	"Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." []	Orphanet:465	"Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." []	77378	\N	\N	EFO	0	EFO	Congenital plasminogen activator inhibitor type 1 deficiency	Congenital plasminogen activator inhibitor type 1 deficiency
Orphanet:68334	Orphanet:465	\N	"" []	Orphanet:465	"Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." []	221071	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital plasminogen activator inhibitor type 1 deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:465	"Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." []	576918	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Congenital plasminogen activator inhibitor type 1 deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:465	"Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." []	1160155	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital plasminogen activator inhibitor type 1 deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:465	"Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." []	2043573	\N	\N	EFO	4	EFO	genetic disorder	Congenital plasminogen activator inhibitor type 1 deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:465	"Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." []	2043574	\N	\N	EFO	4	EFO	hematological system disease	Congenital plasminogen activator inhibitor type 1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:465	"Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." []	3193795	\N	\N	EFO	5	EFO	disease	Congenital plasminogen activator inhibitor type 1 deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:465	"Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." []	3193796	\N	\N	EFO	5	EFO	disease	Congenital plasminogen activator inhibitor type 1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:465	"Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." []	4400035	\N	\N	EFO	6	EFO	disposition	Congenital plasminogen activator inhibitor type 1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:465	"Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." []	5416828	\N	\N	EFO	7	EFO	material property	Congenital plasminogen activator inhibitor type 1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:465	"Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." []	6152165	\N	\N	EFO	8	EFO	experimental factor	Congenital plasminogen activator inhibitor type 1 deficiency
Orphanet:46532	\N	\N	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	77379	\N	\N	EFO	0	EFO	Hereditary persistence of fetal hemoglobin - beta-thalassemia	Hereditary persistence of fetal hemoglobin - beta-thalassemia
Orphanet:231230	Orphanet:46532	\N	"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	221072	\N	\N	EFO	1	EFO	Beta-thalassemia associated with another hemoglobin anomaly	Hereditary persistence of fetal hemoglobin - beta-thalassemia
Orphanet:275749	Orphanet:231230	\N	"" []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	576919	\N	\N	EFO	2	EFO	Beta-thalassemia and related diseases	Hereditary persistence of fetal hemoglobin - beta-thalassemia
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	1160156	\N	\N	EFO	3	EFO	Thalassemia	Hereditary persistence of fetal hemoglobin - beta-thalassemia
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	2043575	\N	\N	EFO	4	EFO	Hemoglobinopathy	Hereditary persistence of fetal hemoglobin - beta-thalassemia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	3193797	\N	\N	EFO	5	EFO	Rare constitutional anemia	Hereditary persistence of fetal hemoglobin - beta-thalassemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	4400036	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Hereditary persistence of fetal hemoglobin - beta-thalassemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	5416829	\N	\N	EFO	7	EFO	genetic disorder	Hereditary persistence of fetal hemoglobin - beta-thalassemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	5416830	\N	\N	EFO	7	EFO	hematological system disease	Hereditary persistence of fetal hemoglobin - beta-thalassemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	6152166	\N	\N	EFO	8	EFO	disease	Hereditary persistence of fetal hemoglobin - beta-thalassemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	6152167	\N	\N	EFO	8	EFO	disease	Hereditary persistence of fetal hemoglobin - beta-thalassemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	6633958	\N	\N	EFO	9	EFO	disposition	Hereditary persistence of fetal hemoglobin - beta-thalassemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	6926194	\N	\N	EFO	10	EFO	material property	Hereditary persistence of fetal hemoglobin - beta-thalassemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:46532	"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." []	7099299	\N	\N	EFO	11	EFO	experimental factor	Hereditary persistence of fetal hemoglobin - beta-thalassemia
Orphanet:466	\N	\N	"" []	Orphanet:466	"" []	77380	\N	\N	EFO	0	EFO	Fatal familial insomnia	Fatal familial insomnia
Orphanet:158124	Orphanet:466	\N	"" []	Orphanet:466	"" []	221073	\N	\N	EFO	1	EFO	Genetic dementia	Fatal familial insomnia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:466	"" []	576920	\N	\N	EFO	2	EFO	brain disease	Fatal familial insomnia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:466	"" []	576921	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Fatal familial insomnia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:466	"" []	1160157	\N	\N	EFO	3	EFO	nervous system disease	Fatal familial insomnia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:466	"" []	1160158	\N	\N	EFO	3	EFO	genetic disorder	Fatal familial insomnia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:466	"" []	2043576	\N	\N	EFO	4	EFO	disease	Fatal familial insomnia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:466	"" []	2043577	\N	\N	EFO	4	EFO	disease	Fatal familial insomnia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:466	"" []	3193798	\N	\N	EFO	5	EFO	disposition	Fatal familial insomnia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:466	"" []	4400037	\N	\N	EFO	6	EFO	material property	Fatal familial insomnia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:466	"" []	5416831	\N	\N	EFO	7	EFO	experimental factor	Fatal familial insomnia
Orphanet:46627	\N	\N	"" []	Orphanet:46627	"" []	77381	\N	\N	EFO	0	EFO	Char syndrome	Char syndrome
Orphanet:330197	Orphanet:46627	\N	"" []	Orphanet:46627	"" []	221074	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Char syndrome
Orphanet:98578	Orphanet:46627	\N	"" []	Orphanet:46627	"" []	221075	\N	\N	EFO	1	EFO	Ptosis	Char syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:46627	"" []	576922	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Char syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:46627	"" []	576923	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Char syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:46627	"" []	1160159	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Char syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:46627	"" []	1160160	\N	\N	EFO	3	EFO	Rare palpebral disease	Char syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:46627	"" []	2043578	\N	\N	EFO	4	EFO	genetic disorder	Char syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:46627	"" []	2043579	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Char syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:46627	"" []	5416833	\N	\N	EFO	7	EFO	disease	Char syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:46627	"" []	3193800	\N	\N	EFO	5	EFO	Rare genetic eye disease	Char syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:46627	"" []	5877539	\N	\N	EFO	8	EFO	disposition	Char syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:46627	"" []	4400039	\N	\N	EFO	6	EFO	genetic disorder	Char syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:46627	"" []	4400040	\N	\N	EFO	6	EFO	eye disease	Char syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:46627	"" []	6470776	\N	\N	EFO	9	EFO	material property	Char syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:46627	"" []	5416834	\N	\N	EFO	7	EFO	disease	Char syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:46627	"" []	6848712	\N	\N	EFO	10	EFO	experimental factor	Char syndrome
Orphanet:467	\N	\N	"" []	Orphanet:467	"" []	77382	\N	\N	EFO	0	EFO	Non-acquired combined pituitary hormone deficiency	Non-acquired combined pituitary hormone deficiency
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:467	"" []	221076	\N	\N	EFO	1	EFO	Non-acquired pituitary hormone deficiency	Non-acquired combined pituitary hormone deficiency
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:467	"" []	576924	\N	\N	EFO	2	EFO	Pituitary deficiency	Non-acquired combined pituitary hormone deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:467	"" []	1160161	\N	\N	EFO	3	EFO	Rare genetic hypothalamic or pituitary disease	Non-acquired combined pituitary hormone deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:467	"" []	2043580	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Non-acquired combined pituitary hormone deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:467	"" []	3193801	\N	\N	EFO	5	EFO	genetic disorder	Non-acquired combined pituitary hormone deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:467	"" []	3193802	\N	\N	EFO	5	EFO	endocrine system disease	Non-acquired combined pituitary hormone deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:467	"" []	4400041	\N	\N	EFO	6	EFO	disease	Non-acquired combined pituitary hormone deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:467	"" []	4400042	\N	\N	EFO	6	EFO	disease	Non-acquired combined pituitary hormone deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:467	"" []	5416835	\N	\N	EFO	7	EFO	disposition	Non-acquired combined pituitary hormone deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:467	"" []	6152169	\N	\N	EFO	8	EFO	material property	Non-acquired combined pituitary hormone deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:467	"" []	6633959	\N	\N	EFO	9	EFO	experimental factor	Non-acquired combined pituitary hormone deficiency
Orphanet:46724	\N	\N	"" []	Orphanet:46724	"" []	77383	\N	\N	EFO	0	EFO	Cerebral arteriovenous malformation	Cerebral arteriovenous malformation
Orphanet:371436	Orphanet:46724	\N	"" []	Orphanet:46724	"" []	221077	\N	\N	EFO	1	EFO	Genetic neurovascular malformation	Cerebral arteriovenous malformation
Orphanet:183503	Orphanet:371436	\N	"" []	Orphanet:46724	"" []	576925	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Cerebral arteriovenous malformation
Orphanet:211240	Orphanet:371436	\N	"" []	Orphanet:46724	"" []	576926	\N	\N	EFO	2	EFO	Genetic vascular anomaly	Cerebral arteriovenous malformation
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:46724	"" []	1160162	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cerebral arteriovenous malformation
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:46724	"" []	1160163	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cerebral arteriovenous malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:46724	"" []	2043581	\N	\N	EFO	4	EFO	genetic disorder	Cerebral arteriovenous malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:46724	"" []	2043582	\N	\N	EFO	4	EFO	genetic disorder	Cerebral arteriovenous malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:46724	"" []	3193803	\N	\N	EFO	5	EFO	disease	Cerebral arteriovenous malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:46724	"" []	4400043	\N	\N	EFO	6	EFO	disposition	Cerebral arteriovenous malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:46724	"" []	5416836	\N	\N	EFO	7	EFO	material property	Cerebral arteriovenous malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:46724	"" []	6152170	\N	\N	EFO	8	EFO	experimental factor	Cerebral arteriovenous malformation
Orphanet:469	\N	\N	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	77384	\N	\N	EFO	0	EFO	Hereditary fructose intolerance	Hereditary fructose intolerance
Orphanet:101940	Orphanet:469	\N	"" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	221078	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Hereditary fructose intolerance
Orphanet:104003	Orphanet:469	\N	"" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	221079	\N	\N	EFO	1	EFO	Congenital intestinal transport defect	Hereditary fructose intolerance
Orphanet:308463	Orphanet:469	\N	"" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	221080	\N	\N	EFO	1	EFO	Disorder of fructose metabolism	Hereditary fructose intolerance
Orphanet:309001	Orphanet:469	\N	"" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	221081	\N	\N	EFO	1	EFO	Disorder of carbohydrate absorption and transport	Hereditary fructose intolerance
Orphanet:93593	Orphanet:469	\N	"" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	221082	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Hereditary fructose intolerance
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	576927	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Hereditary fructose intolerance
Orphanet:165655	Orphanet:104003	\N	"" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	576928	\N	\N	EFO	2	EFO	Genetic intestinal disease	Hereditary fructose intolerance
Orphanet:79161	Orphanet:308463	\N	"" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	576929	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Hereditary fructose intolerance
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	576930	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Hereditary fructose intolerance
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	576931	\N	\N	EFO	2	EFO	Rare genetic renal disease	Hereditary fructose intolerance
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	1160164	\N	\N	EFO	3	EFO	digestive system disease	Hereditary fructose intolerance
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	1160165	\N	\N	EFO	3	EFO	genetic disorder	Hereditary fructose intolerance
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	1160166	\N	\N	EFO	3	EFO	digestive system disease	Hereditary fructose intolerance
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	1160167	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Hereditary fructose intolerance
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	1160168	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hereditary fructose intolerance
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	1160169	\N	\N	EFO	3	EFO	genetic disorder	Hereditary fructose intolerance
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	2043583	\N	\N	EFO	4	EFO	disease	Hereditary fructose intolerance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	3193805	\N	\N	EFO	5	EFO	disease	Hereditary fructose intolerance
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	2043585	\N	\N	EFO	4	EFO	genetic disorder	Hereditary fructose intolerance
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	2043586	\N	\N	EFO	4	EFO	genetic disorder	Hereditary fructose intolerance
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	2043587	\N	\N	EFO	4	EFO	metabolic disease	Hereditary fructose intolerance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	4134110	\N	\N	EFO	6	EFO	disposition	Hereditary fructose intolerance
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	3193806	\N	\N	EFO	5	EFO	disease	Hereditary fructose intolerance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	5183010	\N	\N	EFO	7	EFO	material property	Hereditary fructose intolerance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:469	"Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." []	5998373	\N	\N	EFO	8	EFO	experimental factor	Hereditary fructose intolerance
Orphanet:47	\N	\N	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	77385	\N	\N	EFO	0	EFO	X-linked agammaglobulinemia	X-linked agammaglobulinemia
Orphanet:229717	Orphanet:47	\N	"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	221083	\N	\N	EFO	1	EFO	Isolated agammaglobulinemia	X-linked agammaglobulinemia
Orphanet:183669	Orphanet:229717	\N	"" []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	576932	\N	\N	EFO	2	EFO	Agammaglobulinemia	X-linked agammaglobulinemia
Orphanet:101977	Orphanet:183669	\N	"" []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	1160170	\N	\N	EFO	3	EFO	Immunodeficiency predominantly affecting antibody production	X-linked agammaglobulinemia
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	2043588	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	X-linked agammaglobulinemia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	3193807	\N	\N	EFO	5	EFO	Primary immunodeficiency	X-linked agammaglobulinemia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	4400045	\N	\N	EFO	6	EFO	Rare genetic immune disease	X-linked agammaglobulinemia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	5416838	\N	\N	EFO	7	EFO	genetic disorder	X-linked agammaglobulinemia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	5416839	\N	\N	EFO	7	EFO	immune system disease	X-linked agammaglobulinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	6152171	\N	\N	EFO	8	EFO	disease	X-linked agammaglobulinemia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	6152172	\N	\N	EFO	8	EFO	disease	X-linked agammaglobulinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	6633960	\N	\N	EFO	9	EFO	disposition	X-linked agammaglobulinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	6926195	\N	\N	EFO	10	EFO	material property	X-linked agammaglobulinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:47	"X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." []	7099300	\N	\N	EFO	11	EFO	experimental factor	X-linked agammaglobulinemia
Orphanet:470	\N	\N	"Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." []	Orphanet:470	"Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." []	77386	\N	\N	EFO	0	EFO	Lysinuric protein intolerance	Lysinuric protein intolerance
Orphanet:79166	Orphanet:470	\N	"" []	Orphanet:470	"Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." []	221084	\N	\N	EFO	1	EFO	Disorder of amino acid absorption and transport	Lysinuric protein intolerance
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:470	"Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." []	576933	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Lysinuric protein intolerance
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:470	"Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." []	1160171	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Lysinuric protein intolerance
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:470	"Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." []	2043589	\N	\N	EFO	4	EFO	genetic disorder	Lysinuric protein intolerance
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:470	"Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." []	2043590	\N	\N	EFO	4	EFO	metabolic disease	Lysinuric protein intolerance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:470	"Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." []	3193808	\N	\N	EFO	5	EFO	disease	Lysinuric protein intolerance
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:470	"Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." []	3193809	\N	\N	EFO	5	EFO	disease	Lysinuric protein intolerance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:470	"Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." []	4400046	\N	\N	EFO	6	EFO	disposition	Lysinuric protein intolerance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:470	"Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." []	5416840	\N	\N	EFO	7	EFO	material property	Lysinuric protein intolerance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:470	"Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." []	6152173	\N	\N	EFO	8	EFO	experimental factor	Lysinuric protein intolerance
Orphanet:47044	\N	\N	"" []	Orphanet:47044	"" []	77387	\N	\N	EFO	0	EFO	Familial papillary renal cell carcinoma	Familial papillary renal cell carcinoma
Orphanet:183595	Orphanet:47044	\N	"" []	Orphanet:47044	"" []	221085	\N	\N	EFO	1	EFO	Genetic renal tumor	Familial papillary renal cell carcinoma
Orphanet:319328	Orphanet:47044	\N	"" []	Orphanet:47044	"" []	221086	\N	\N	EFO	1	EFO	Inherited renal cancer-predisposing syndrome	Familial papillary renal cell carcinoma
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:47044	"" []	576934	\N	\N	EFO	2	EFO	urogenital neoplasm	Familial papillary renal cell carcinoma
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:47044	"" []	576935	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial papillary renal cell carcinoma
Orphanet:140162	Orphanet:319328	\N	"" []	Orphanet:47044	"" []	576936	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Familial papillary renal cell carcinoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:47044	"" []	1160172	\N	\N	EFO	3	EFO	neoplasm	Familial papillary renal cell carcinoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:47044	"" []	1160173	\N	\N	EFO	3	EFO	genetic disorder	Familial papillary renal cell carcinoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:47044	"" []	1160174	\N	\N	EFO	3	EFO	neoplasm	Familial papillary renal cell carcinoma
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:47044	"" []	1160175	\N	\N	EFO	3	EFO	genetic disorder	Familial papillary renal cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:47044	"" []	2043591	\N	\N	EFO	4	EFO	disease	Familial papillary renal cell carcinoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:47044	"" []	2043592	\N	\N	EFO	4	EFO	disease	Familial papillary renal cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:47044	"" []	3193810	\N	\N	EFO	5	EFO	disposition	Familial papillary renal cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:47044	"" []	4400047	\N	\N	EFO	6	EFO	material property	Familial papillary renal cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:47044	"" []	5416841	\N	\N	EFO	7	EFO	experimental factor	Familial papillary renal cell carcinoma
Orphanet:47045	\N	\N	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	77388	\N	\N	EFO	0	EFO	Familial cold urticaria	Familial cold urticaria
EFO:1001881	Orphanet:47045	\N	"Cold urticaria (essentially meaning \\"cold hives\\") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. [Wikipedia:Cold_urticaria]" []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	221087	\N	\N	EFO	1	EFO	cold urticaria	Familial cold urticaria
Orphanet:208650	Orphanet:47045	\N	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	221088	\N	\N	EFO	1	EFO	Cryopyrin-associated periodic syndrome	Familial cold urticaria
EFO:0005531	EFO:1001881	\N	"Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction." []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	576937	\N	\N	EFO	2	EFO	urticaria	Familial cold urticaria
Orphanet:290839	Orphanet:208650	\N	"" []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	576938	\N	\N	EFO	2	EFO	Autoinflammatory syndrome with immune deficiency	Familial cold urticaria
Orphanet:324924	Orphanet:208650	\N	"" []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	576939	\N	\N	EFO	2	EFO	Hereditary periodic fever syndrome	Familial cold urticaria
EFO:0000701	EFO:0005531	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	1160176	\N	\N	EFO	3	EFO	skin disease	Familial cold urticaria
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	1160177	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Familial cold urticaria
Orphanet:271870	Orphanet:324924	\N	"" []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	1160178	\N	\N	EFO	3	EFO	Rare genetic systemic or rheumatologic disease	Familial cold urticaria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	2043593	\N	\N	EFO	4	EFO	disease	Familial cold urticaria
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	2043594	\N	\N	EFO	4	EFO	Primary immunodeficiency	Familial cold urticaria
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	2043595	\N	\N	EFO	4	EFO	genetic disorder	Familial cold urticaria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	5877540	\N	\N	EFO	8	EFO	disposition	Familial cold urticaria
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	3193812	\N	\N	EFO	5	EFO	Rare genetic immune disease	Familial cold urticaria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	5416843	\N	\N	EFO	7	EFO	disease	Familial cold urticaria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	6410245	\N	\N	EFO	9	EFO	material property	Familial cold urticaria
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	4400049	\N	\N	EFO	6	EFO	genetic disorder	Familial cold urticaria
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	4400050	\N	\N	EFO	6	EFO	immune system disease	Familial cold urticaria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	6808080	\N	\N	EFO	10	EFO	experimental factor	Familial cold urticaria
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:47045	"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." []	5416844	\N	\N	EFO	7	EFO	disease	Familial cold urticaria
Orphanet:47159	\N	\N	"Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." []	Orphanet:47159	"Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." []	77389	\N	\N	EFO	0	EFO	Proximal renal tubular acidosis	Proximal renal tubular acidosis
Orphanet:314822	Orphanet:47159	\N	"" []	Orphanet:47159	"Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." []	221089	\N	\N	EFO	1	EFO	Primary renal tubular acidosis	Proximal renal tubular acidosis
Orphanet:183592	Orphanet:314822	\N	"" []	Orphanet:47159	"Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." []	576940	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Proximal renal tubular acidosis
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:47159	"Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." []	1160179	\N	\N	EFO	3	EFO	Rare genetic renal disease	Proximal renal tubular acidosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:47159	"Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." []	2043596	\N	\N	EFO	4	EFO	genetic disorder	Proximal renal tubular acidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:47159	"Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." []	3193814	\N	\N	EFO	5	EFO	disease	Proximal renal tubular acidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:47159	"Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." []	4400052	\N	\N	EFO	6	EFO	disposition	Proximal renal tubular acidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:47159	"Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." []	5416845	\N	\N	EFO	7	EFO	material property	Proximal renal tubular acidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:47159	"Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." []	6152174	\N	\N	EFO	8	EFO	experimental factor	Proximal renal tubular acidosis
Orphanet:474	\N	\N	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	77390	\N	\N	EFO	0	EFO	Jeune syndrome	Jeune syndrome
EFO:0003900	Orphanet:474	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	221090	\N	\N	EFO	1	EFO	ciliopathy	Jeune syndrome
Orphanet:1505	Orphanet:474	\N	"" []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	221091	\N	\N	EFO	1	EFO	Short rib-polydactyly syndrome	Jeune syndrome
Orphanet:93547	Orphanet:474	\N	"" []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	221092	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Jeune syndrome
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	576941	\N	\N	EFO	2	EFO	genetic disorder	Jeune syndrome
Orphanet:93426	Orphanet:1505	\N	"" []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	576942	\N	\N	EFO	2	EFO	Short rib dysplasia	Jeune syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	576943	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Jeune syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	5060123	\N	\N	EFO	7	EFO	disease	Jeune syndrome
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	1160181	\N	\N	EFO	3	EFO	Primary bone dysplasia	Jeune syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	1160182	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Jeune syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	1160183	\N	\N	EFO	3	EFO	Rare genetic renal disease	Jeune syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	5801869	\N	\N	EFO	8	EFO	disposition	Jeune syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	2043598	\N	\N	EFO	4	EFO	Rare genetic bone disease	Jeune syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	2043599	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Jeune syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	4400056	\N	\N	EFO	6	EFO	genetic disorder	Jeune syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	2043601	\N	\N	EFO	4	EFO	genetic disorder	Jeune syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	6378949	\N	\N	EFO	9	EFO	material property	Jeune syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	3193816	\N	\N	EFO	5	EFO	genetic disorder	Jeune syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	3193817	\N	\N	EFO	5	EFO	bone disease	Jeune syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	3193818	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Jeune syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	6778777	\N	\N	EFO	10	EFO	experimental factor	Jeune syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	4400055	\N	\N	EFO	6	EFO	skeletal system disease	Jeune syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:474	"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \\"trident\\" aspect of the acetabula and metaphyseal changes." []	5416846	\N	\N	EFO	7	EFO	disease	Jeune syndrome
Orphanet:475	\N	\N	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	77391	\N	\N	EFO	0	EFO	Joubert syndrome	Joubert syndrome
EFO:0003900	Orphanet:475	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	221093	\N	\N	EFO	1	EFO	ciliopathy	Joubert syndrome
Orphanet:140874	Orphanet:475	\N	"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	221094	\N	\N	EFO	1	EFO	Joubert syndrome and related disorders	Joubert syndrome
Orphanet:269560	Orphanet:475	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	221095	\N	\N	EFO	1	EFO	Genetic cerebellar malformation	Joubert syndrome
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	576944	\N	\N	EFO	2	EFO	genetic disorder	Joubert syndrome
Orphanet:98095	Orphanet:140874	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	576945	\N	\N	EFO	2	EFO	Autosomal recessive congenital cerebellar ataxia	Joubert syndrome
Orphanet:269557	Orphanet:269560	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	576946	\N	\N	EFO	2	EFO	Genetic posterior fossa malformation	Joubert syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6808081	\N	\N	EFO	10	EFO	disease	Joubert syndrome
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	1160185	\N	\N	EFO	3	EFO	Autosomal recessive cerebellar ataxia	Joubert syndrome
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	1160186	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Joubert syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	7007013	\N	\N	EFO	11	EFO	disposition	Joubert syndrome
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	2043603	\N	\N	EFO	4	EFO	Rare hereditary ataxia	Joubert syndrome
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	2043604	\N	\N	EFO	4	EFO	Early-onset ataxia with dementia	Joubert syndrome
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	2043605	\N	\N	EFO	4	EFO	Spinocerebellar ataxia with oculomotor anomaly	Joubert syndrome
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	2043606	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Joubert syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	7164490	\N	\N	EFO	12	EFO	material property	Joubert syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	3193821	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Joubert syndrome
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	3193822	\N	\N	EFO	5	EFO	Ataxia with dementia	Joubert syndrome
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	3193823	\N	\N	EFO	5	EFO	Nervous system anomaly with eye involvement	Joubert syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	3193824	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Joubert syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	3193825	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Joubert syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	7269844	\N	\N	EFO	13	EFO	experimental factor	Joubert syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6633962	\N	\N	EFO	9	EFO	genetic disorder	Joubert syndrome
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	4400059	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease with dementia	Joubert syndrome
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	4400060	\N	\N	EFO	6	EFO	Genetic neuro-ophthalmological disease	Joubert syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	4400061	\N	\N	EFO	6	EFO	genetic disorder	Joubert syndrome
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	5416848	\N	\N	EFO	7	EFO	Genetic dementia	Joubert syndrome
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	5416849	\N	\N	EFO	7	EFO	Genetic neurodegenerative disease	Joubert syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	5416850	\N	\N	EFO	7	EFO	Rare genetic eye disease	Joubert syndrome
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6152175	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6152176	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6152177	\N	\N	EFO	8	EFO	neurodegenerative disease	Joubert syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6152178	\N	\N	EFO	8	EFO	brain disease	Joubert syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6152179	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Joubert syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6152180	\N	\N	EFO	8	EFO	genetic disorder	Joubert syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6152181	\N	\N	EFO	8	EFO	eye disease	Joubert syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6633961	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6633963	\N	\N	EFO	9	EFO	nervous system disease	Joubert syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6633965	\N	\N	EFO	9	EFO	disease	Joubert syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:475	"Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." []	6926196	\N	\N	EFO	10	EFO	disease	Joubert syndrome
Orphanet:477	\N	\N	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	77392	\N	\N	EFO	0	EFO	KID syndrome	KID syndrome
Orphanet:281244	Orphanet:477	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	221096	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	KID syndrome
Orphanet:307804	Orphanet:477	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	221097	\N	\N	EFO	1	EFO	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	KID syndrome
Orphanet:79373	Orphanet:477	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	221098	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	KID syndrome
Orphanet:90642	Orphanet:477	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	221099	\N	\N	EFO	1	EFO	Syndromic genetic deafness	KID syndrome
Orphanet:98352	Orphanet:477	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	221100	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	KID syndrome
Orphanet:98699	Orphanet:477	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	221101	\N	\N	EFO	1	EFO	Syndromic ichthyosis associated with ocular features	KID syndrome
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	576947	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	KID syndrome
Orphanet:307711	Orphanet:307804	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	576948	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	KID syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	576949	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	KID syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	576950	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	KID syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	576951	\N	\N	EFO	2	EFO	Rare genetic deafness	KID syndrome
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	576952	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	KID syndrome
Orphanet:98697	Orphanet:98699	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	576953	\N	\N	EFO	2	EFO	Genetic keratinization disorder associated with ocular features	KID syndrome
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	1160187	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	KID syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	1160188	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	KID syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	1160189	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	KID syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	1160190	\N	\N	EFO	3	EFO	Rare genetic skin disease	KID syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	1160191	\N	\N	EFO	3	EFO	genetic disorder	KID syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	1160192	\N	\N	EFO	3	EFO	auditory system disease	KID syndrome
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	1160193	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	KID syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	2043607	\N	\N	EFO	4	EFO	Inherited ichthyosis	KID syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	2043608	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	KID syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	2043609	\N	\N	EFO	4	EFO	genetic disorder	KID syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	5416851	\N	\N	EFO	7	EFO	genetic disorder	KID syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	5416852	\N	\N	EFO	7	EFO	skin disease	KID syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	5817765	\N	\N	EFO	8	EFO	disease	KID syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	2043613	\N	\N	EFO	4	EFO	sensory system disease	KID syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	2043614	\N	\N	EFO	4	EFO	Rare genetic eye disease	KID syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	3193826	\N	\N	EFO	5	EFO	Genetic epidermal disorder	KID syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	3193827	\N	\N	EFO	5	EFO	Genetic epidermal disorder	KID syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	5817766	\N	\N	EFO	8	EFO	disease	KID syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	6378951	\N	\N	EFO	9	EFO	disposition	KID syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	3193831	\N	\N	EFO	5	EFO	nervous system disease	KID syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	3193832	\N	\N	EFO	5	EFO	genetic disorder	KID syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	3193833	\N	\N	EFO	5	EFO	eye disease	KID syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	4400062	\N	\N	EFO	6	EFO	Rare genetic skin disease	KID syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	6778779	\N	\N	EFO	10	EFO	material property	KID syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	4400064	\N	\N	EFO	6	EFO	disease	KID syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	4400066	\N	\N	EFO	6	EFO	disease	KID syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:477	"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []	7029974	\N	\N	EFO	11	EFO	experimental factor	KID syndrome
Orphanet:478	\N	\N	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	77393	\N	\N	EFO	0	EFO	Kallmann syndrome	Kallmann syndrome
Orphanet:238666	Orphanet:478	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	221102	\N	\N	EFO	1	EFO	Isolated congenital hypogonadotropic hypogonadism	Kallmann syndrome
Orphanet:174590	Orphanet:238666	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	576954	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Kallmann syndrome
Orphanet:399839	Orphanet:238666	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	576955	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Kallmann syndrome
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	1160194	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Kallmann syndrome
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	1160195	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Kallmann syndrome
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	1160196	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Kallmann syndrome
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	1160197	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Kallmann syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	2043615	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Kallmann syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	2043616	\N	\N	EFO	4	EFO	Rare genetic male infertility	Kallmann syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	2043617	\N	\N	EFO	4	EFO	Pituitary deficiency	Kallmann syndrome
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	2043618	\N	\N	EFO	4	EFO	Rare genetic female infertility	Kallmann syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	3193834	\N	\N	EFO	5	EFO	genetic disorder	Kallmann syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	3193835	\N	\N	EFO	5	EFO	reproductive system disease	Kallmann syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	3193836	\N	\N	EFO	5	EFO	Genetic infertility	Kallmann syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	3193837	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Kallmann syndrome
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	3193838	\N	\N	EFO	5	EFO	Genetic infertility	Kallmann syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	6152183	\N	\N	EFO	8	EFO	disease	Kallmann syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	5416856	\N	\N	EFO	7	EFO	disease	Kallmann syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	4400069	\N	\N	EFO	6	EFO	genetic disorder	Kallmann syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	4400070	\N	\N	EFO	6	EFO	reproductive system disease	Kallmann syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	4400071	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Kallmann syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	6470778	\N	\N	EFO	9	EFO	disposition	Kallmann syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	5416857	\N	\N	EFO	7	EFO	genetic disorder	Kallmann syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	5416858	\N	\N	EFO	7	EFO	endocrine system disease	Kallmann syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	6848713	\N	\N	EFO	10	EFO	material property	Kallmann syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	6152184	\N	\N	EFO	8	EFO	disease	Kallmann syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:478	"Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." []	7068514	\N	\N	EFO	11	EFO	experimental factor	Kallmann syndrome
Orphanet:48	\N	\N	"" []	Orphanet:48	"" []	77394	\N	\N	EFO	0	EFO	Congenital bilateral absence of vas deferens	Congenital bilateral absence of vas deferens
Orphanet:156622	Orphanet:48	\N	"" []	Orphanet:48	"" []	221103	\N	\N	EFO	1	EFO	Genetic urogenital tract malformation	Congenital bilateral absence of vas deferens
Orphanet:399998	Orphanet:48	\N	"" []	Orphanet:48	"" []	221104	\N	\N	EFO	1	EFO	Male infertility due to obstructive azoospermia of genetic origin	Congenital bilateral absence of vas deferens
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:48	"" []	576956	\N	\N	EFO	2	EFO	Rare genetic urogenital disease	Congenital bilateral absence of vas deferens
Orphanet:399980	Orphanet:399998	\N	"" []	Orphanet:48	"" []	576957	\N	\N	EFO	2	EFO	Rare genetic male infertility	Congenital bilateral absence of vas deferens
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:48	"" []	1160198	\N	\N	EFO	3	EFO	genetic disorder	Congenital bilateral absence of vas deferens
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:48	"" []	1160199	\N	\N	EFO	3	EFO	Genetic infertility	Congenital bilateral absence of vas deferens
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:48	"" []	3193840	\N	\N	EFO	5	EFO	disease	Congenital bilateral absence of vas deferens
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:48	"" []	2043620	\N	\N	EFO	4	EFO	genetic disorder	Congenital bilateral absence of vas deferens
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:48	"" []	2043621	\N	\N	EFO	4	EFO	reproductive system disease	Congenital bilateral absence of vas deferens
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:48	"" []	4134112	\N	\N	EFO	6	EFO	disposition	Congenital bilateral absence of vas deferens
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:48	"" []	3193841	\N	\N	EFO	5	EFO	disease	Congenital bilateral absence of vas deferens
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:48	"" []	5183013	\N	\N	EFO	7	EFO	material property	Congenital bilateral absence of vas deferens
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:48	"" []	5998377	\N	\N	EFO	8	EFO	experimental factor	Congenital bilateral absence of vas deferens
Orphanet:480	\N	\N	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	77395	\N	\N	EFO	0	EFO	Kearns-Sayre syndrome	Kearns-Sayre syndrome
Orphanet:181402	Orphanet:480	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	221105	\N	\N	EFO	1	EFO	Syndrome with hypoparathyroidism	Kearns-Sayre syndrome
Orphanet:206966	Orphanet:480	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	221106	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Kearns-Sayre syndrome
Orphanet:217613	Orphanet:480	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	221107	\N	\N	EFO	1	EFO	Mitochondrial disease with dilated cardiomyopathy	Kearns-Sayre syndrome
Orphanet:225703	Orphanet:480	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	221108	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	Kearns-Sayre syndrome
Orphanet:254767	Orphanet:480	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	221109	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA	Kearns-Sayre syndrome
Orphanet:68385	Orphanet:480	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	221110	\N	\N	EFO	1	EFO	Neurometabolic disease	Kearns-Sayre syndrome
Orphanet:90642	Orphanet:480	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	221111	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Kearns-Sayre syndrome
Orphanet:98661	Orphanet:480	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	221112	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Kearns-Sayre syndrome
Orphanet:98683	Orphanet:480	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	221113	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Kearns-Sayre syndrome
Orphanet:98695	Orphanet:480	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	221114	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	Kearns-Sayre syndrome
Orphanet:208593	Orphanet:181402	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	576958	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Kearns-Sayre syndrome
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	576959	\N	\N	EFO	2	EFO	Muscular lipidosis	Kearns-Sayre syndrome
Orphanet:217607	Orphanet:217613	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	576960	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Kearns-Sayre syndrome
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	576961	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Kearns-Sayre syndrome
Orphanet:254758	Orphanet:254767	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	576962	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Kearns-Sayre syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	576963	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Kearns-Sayre syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	576964	\N	\N	EFO	2	EFO	Rare genetic deafness	Kearns-Sayre syndrome
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	576965	\N	\N	EFO	2	EFO	Retinal dystrophy	Kearns-Sayre syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	576966	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Kearns-Sayre syndrome
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	576967	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Kearns-Sayre syndrome
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	1160200	\N	\N	EFO	3	EFO	parathyroid disease	Kearns-Sayre syndrome
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	1160201	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Kearns-Sayre syndrome
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	1160202	\N	\N	EFO	3	EFO	Metabolic myopathy	Kearns-Sayre syndrome
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	1160203	\N	\N	EFO	3	EFO	cardiomyopathy	Kearns-Sayre syndrome
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	1160204	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Kearns-Sayre syndrome
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	1160205	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Kearns-Sayre syndrome
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	1160206	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Kearns-Sayre syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	6152186	\N	\N	EFO	8	EFO	genetic disorder	Kearns-Sayre syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	1160208	\N	\N	EFO	3	EFO	genetic disorder	Kearns-Sayre syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	1160209	\N	\N	EFO	3	EFO	auditory system disease	Kearns-Sayre syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	1160210	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Kearns-Sayre syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	1160211	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Kearns-Sayre syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	1160212	\N	\N	EFO	3	EFO	Rare genetic eye disease	Kearns-Sayre syndrome
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	2043622	\N	\N	EFO	4	EFO	calcium metabolic disease	Kearns-Sayre syndrome
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	2043623	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Kearns-Sayre syndrome
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	2043624	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Kearns-Sayre syndrome
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	2043625	\N	\N	EFO	4	EFO	heart disease	Kearns-Sayre syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	2043626	\N	\N	EFO	4	EFO	genetic disorder	Kearns-Sayre syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	2043627	\N	\N	EFO	4	EFO	heart disease	Kearns-Sayre syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	2043628	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Kearns-Sayre syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	2043629	\N	\N	EFO	4	EFO	Mitochondrial disease	Kearns-Sayre syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	6370825	\N	\N	EFO	9	EFO	disease	Kearns-Sayre syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	2043631	\N	\N	EFO	4	EFO	sensory system disease	Kearns-Sayre syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	2043632	\N	\N	EFO	4	EFO	Rare genetic eye disease	Kearns-Sayre syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	2043633	\N	\N	EFO	4	EFO	Rare genetic eye disease	Kearns-Sayre syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	3193853	\N	\N	EFO	5	EFO	genetic disorder	Kearns-Sayre syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	3193854	\N	\N	EFO	5	EFO	eye disease	Kearns-Sayre syndrome
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	3193842	\N	\N	EFO	5	EFO	metabolic disease	Kearns-Sayre syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	3193843	\N	\N	EFO	5	EFO	genetic disorder	Kearns-Sayre syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	3193844	\N	\N	EFO	5	EFO	endocrine system disease	Kearns-Sayre syndrome
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	3193845	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Kearns-Sayre syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	3193846	\N	\N	EFO	5	EFO	cardiovascular disease	Kearns-Sayre syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	3193848	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Kearns-Sayre syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	3193849	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Kearns-Sayre syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	3193850	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Kearns-Sayre syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	6762390	\N	\N	EFO	10	EFO	disposition	Kearns-Sayre syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	3193852	\N	\N	EFO	5	EFO	nervous system disease	Kearns-Sayre syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	4134115	\N	\N	EFO	6	EFO	disease	Kearns-Sayre syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	6152188	\N	\N	EFO	8	EFO	disease	Kearns-Sayre syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	4400074	\N	\N	EFO	6	EFO	disease	Kearns-Sayre syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	4400075	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Kearns-Sayre syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	4400076	\N	\N	EFO	6	EFO	disease	Kearns-Sayre syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	4400078	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Kearns-Sayre syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	4400079	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Kearns-Sayre syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	7015703	\N	\N	EFO	11	EFO	material property	Kearns-Sayre syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	4400081	\N	\N	EFO	6	EFO	disease	Kearns-Sayre syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	5416860	\N	\N	EFO	7	EFO	muscular disease	Kearns-Sayre syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	5416861	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Kearns-Sayre syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	5416862	\N	\N	EFO	7	EFO	genetic disorder	Kearns-Sayre syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	5416863	\N	\N	EFO	7	EFO	genetic disorder	Kearns-Sayre syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	5416864	\N	\N	EFO	7	EFO	metabolic disease	Kearns-Sayre syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	7173651	\N	\N	EFO	12	EFO	experimental factor	Kearns-Sayre syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	6152185	\N	\N	EFO	8	EFO	skeletal system disease	Kearns-Sayre syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:480	"Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." []	6633967	\N	\N	EFO	9	EFO	disease	Kearns-Sayre syndrome
Orphanet:481	\N	\N	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	77396	\N	\N	EFO	0	EFO	Kennedy disease	Kennedy disease
Orphanet:183500	Orphanet:481	\N	"" []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	221115	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Kennedy disease
Orphanet:206707	Orphanet:481	\N	"" []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	221116	\N	\N	EFO	1	EFO	Bulbospinal muscular atrophy of adult	Kennedy disease
Orphanet:399685	Orphanet:481	\N	"" []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	221117	\N	\N	EFO	1	EFO	Rare male infertility due to testicular endocrine disorder	Kennedy disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	576968	\N	\N	EFO	2	EFO	neurodegenerative disease	Kennedy disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	576969	\N	\N	EFO	2	EFO	brain disease	Kennedy disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	576970	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Kennedy disease
Orphanet:206701	Orphanet:206707	\N	"" []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	576971	\N	\N	EFO	2	EFO	Bulbospinal muscular atrophy	Kennedy disease
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	576972	\N	\N	EFO	2	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Kennedy disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	1160213	\N	\N	EFO	3	EFO	nervous system disease	Kennedy disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	1160214	\N	\N	EFO	3	EFO	nervous system disease	Kennedy disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	4400084	\N	\N	EFO	6	EFO	genetic disorder	Kennedy disease
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	1160216	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Kennedy disease
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	1160217	\N	\N	EFO	3	EFO	Rare genetic male infertility	Kennedy disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	2043636	\N	\N	EFO	4	EFO	disease	Kennedy disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	5028451	\N	\N	EFO	7	EFO	disease	Kennedy disease
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	2043638	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Kennedy disease
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	2043639	\N	\N	EFO	4	EFO	Genetic infertility	Kennedy disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	5817768	\N	\N	EFO	8	EFO	disposition	Kennedy disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	3193857	\N	\N	EFO	5	EFO	muscular disease	Kennedy disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	3193858	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Kennedy disease
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	3193859	\N	\N	EFO	5	EFO	genetic disorder	Kennedy disease
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	3193860	\N	\N	EFO	5	EFO	reproductive system disease	Kennedy disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	6410248	\N	\N	EFO	9	EFO	material property	Kennedy disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	4400083	\N	\N	EFO	6	EFO	skeletal system disease	Kennedy disease
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	4400086	\N	\N	EFO	6	EFO	disease	Kennedy disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	6808083	\N	\N	EFO	10	EFO	experimental factor	Kennedy disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:481	"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." []	5416867	\N	\N	EFO	7	EFO	disease	Kennedy disease
Orphanet:483	\N	\N	"" []	Orphanet:483	"" []	77397	\N	\N	EFO	0	EFO	Congenital high-molecular-weight kininogen deficiency	Congenital high-molecular-weight kininogen deficiency
Orphanet:68334	Orphanet:483	\N	"" []	Orphanet:483	"" []	221118	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital high-molecular-weight kininogen deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:483	"" []	576973	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Congenital high-molecular-weight kininogen deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:483	"" []	1160218	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital high-molecular-weight kininogen deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:483	"" []	2043640	\N	\N	EFO	4	EFO	genetic disorder	Congenital high-molecular-weight kininogen deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:483	"" []	2043641	\N	\N	EFO	4	EFO	hematological system disease	Congenital high-molecular-weight kininogen deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:483	"" []	3193861	\N	\N	EFO	5	EFO	disease	Congenital high-molecular-weight kininogen deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:483	"" []	3193862	\N	\N	EFO	5	EFO	disease	Congenital high-molecular-weight kininogen deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:483	"" []	4400087	\N	\N	EFO	6	EFO	disposition	Congenital high-molecular-weight kininogen deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:483	"" []	5416868	\N	\N	EFO	7	EFO	material property	Congenital high-molecular-weight kininogen deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:483	"" []	6152189	\N	\N	EFO	8	EFO	experimental factor	Congenital high-molecular-weight kininogen deficiency
Orphanet:48431	\N	\N	"" []	Orphanet:48431	"" []	77398	\N	\N	EFO	0	EFO	Congenital cataracts - facial dysmorphism - neuropathy	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:102283	Orphanet:48431	\N	"" []	Orphanet:48431	"" []	221119	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:108987	Orphanet:48431	\N	"" []	Orphanet:48431	"" []	221120	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:140459	Orphanet:48431	\N	"" []	Orphanet:48431	"" []	221121	\N	\N	EFO	1	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:183763	Orphanet:48431	\N	"" []	Orphanet:48431	"" []	221122	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:207028	Orphanet:48431	\N	"" []	Orphanet:48431	"" []	221123	\N	\N	EFO	1	EFO	Cerebellar ataxia with peripheral neuropathy	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98098	Orphanet:48431	\N	"" []	Orphanet:48431	"" []	221124	\N	\N	EFO	1	EFO	Autosomal recessive degenerative and progressive cerebellar ataxia	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98574	Orphanet:48431	\N	"" []	Orphanet:48431	"" []	221125	\N	\N	EFO	1	EFO	Syndromic epicanthus	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98645	Orphanet:48431	\N	"" []	Orphanet:48431	"" []	221126	\N	\N	EFO	1	EFO	Cerebral disease with cataract	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:48431	"" []	576974	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:48431	"" []	576975	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:48431	"" []	576976	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:48431	"" []	576977	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:207025	Orphanet:207028	\N	"" []	Orphanet:48431	"" []	576978	\N	\N	EFO	2	EFO	Rare hereditary neurologic disease with peripheral neuropathy	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:1172	Orphanet:98098	\N	"" []	Orphanet:48431	"" []	576979	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98573	Orphanet:98574	\N	"" []	Orphanet:48431	"" []	576980	\N	\N	EFO	2	EFO	Epicanthal fold	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98643	Orphanet:98645	\N	"" []	Orphanet:48431	"" []	576981	\N	\N	EFO	2	EFO	Systemic disease with cataract	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:48431	"" []	1160219	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:48431	"" []	1160220	\N	\N	EFO	3	EFO	Rare genetic eye disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:48431	"" []	1160221	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:48431	"" []	1160222	\N	\N	EFO	3	EFO	motor neuron disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:48431	"" []	1160223	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:48431	"" []	1160224	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:207015	Orphanet:207025	\N	"" []	Orphanet:48431	"" []	1160225	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:48431	"" []	1160226	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:48431	"" []	1160227	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:48431	"" []	1160228	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:48431	"" []	1160229	\N	\N	EFO	3	EFO	Canthal anomaly	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:48431	"" []	1160230	\N	\N	EFO	3	EFO	Syndromic cataract	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:48431	"" []	2043642	\N	\N	EFO	4	EFO	genetic disorder	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:48431	"" []	5416875	\N	\N	EFO	7	EFO	genetic disorder	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:48431	"" []	5416876	\N	\N	EFO	7	EFO	eye disease	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:48431	"" []	2043645	\N	\N	EFO	4	EFO	neurodegenerative disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:48431	"" []	3193867	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:48431	"" []	6152192	\N	\N	EFO	8	EFO	genetic disorder	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:48431	"" []	2043648	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:48431	"" []	2043649	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:48431	"" []	2043650	\N	\N	EFO	4	EFO	Ataxia with dementia	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:48431	"" []	2043651	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:48431	"" []	2043652	\N	\N	EFO	4	EFO	Rare palpebral disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:48431	"" []	2043653	\N	\N	EFO	4	EFO	Rare cataract	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:48431	"" []	6378953	\N	\N	EFO	9	EFO	disease	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:48431	"" []	5817770	\N	\N	EFO	8	EFO	disease	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:48431	"" []	6152193	\N	\N	EFO	8	EFO	nervous system disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:48431	"" []	3193868	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:48431	"" []	3193869	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:48431	"" []	3193870	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:48431	"" []	3193871	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Congenital cataracts - facial dysmorphism - neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:48431	"" []	6778781	\N	\N	EFO	10	EFO	disposition	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:48431	"" []	6410250	\N	\N	EFO	9	EFO	disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:48431	"" []	4400090	\N	\N	EFO	6	EFO	Genetic dementia	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:48431	"" []	4400091	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:48431	"" []	4400092	\N	\N	EFO	6	EFO	Rare genetic eye disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:48431	"" []	4400093	\N	\N	EFO	6	EFO	Rare genetic eye disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:48431	"" []	4400094	\N	\N	EFO	6	EFO	Rare genetic eye disease	Congenital cataracts - facial dysmorphism - neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:48431	"" []	7029976	\N	\N	EFO	11	EFO	material property	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:48431	"" []	5416870	\N	\N	EFO	7	EFO	brain disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:48431	"" []	5416871	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:48431	"" []	5416872	\N	\N	EFO	7	EFO	neurodegenerative disease	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:48431	"" []	5416873	\N	\N	EFO	7	EFO	brain disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:48431	"" []	5416874	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:48431	"" []	7181813	\N	\N	EFO	12	EFO	experimental factor	Congenital cataracts - facial dysmorphism - neuropathy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:48431	"" []	6152191	\N	\N	EFO	8	EFO	nervous system disease	Congenital cataracts - facial dysmorphism - neuropathy
Orphanet:48471	\N	\N	"" []	Orphanet:48471	"" []	77399	\N	\N	EFO	0	EFO	Lissencephaly	Lissencephaly
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:48471	"" []	221127	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Lissencephaly
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:48471	"" []	221128	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:48471	"" []	221129	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:48471	"" []	576982	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Lissencephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:48471	"" []	576983	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Lissencephaly
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:48471	"" []	576984	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Lissencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:48471	"" []	1160231	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Lissencephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:48471	"" []	1160232	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Lissencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:48471	"" []	1160233	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:48471	"" []	1160234	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Lissencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:48471	"" []	2043654	\N	\N	EFO	4	EFO	genetic disorder	Lissencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:48471	"" []	2043655	\N	\N	EFO	4	EFO	genetic disorder	Lissencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:48471	"" []	3193872	\N	\N	EFO	5	EFO	disease	Lissencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:48471	"" []	4400095	\N	\N	EFO	6	EFO	disposition	Lissencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:48471	"" []	5416877	\N	\N	EFO	7	EFO	material property	Lissencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:48471	"" []	6152194	\N	\N	EFO	8	EFO	experimental factor	Lissencephaly
Orphanet:485	\N	\N	"" []	Orphanet:485	"" []	77400	\N	\N	EFO	0	EFO	Kniest dysplasia	Kniest dysplasia
Orphanet:138041	Orphanet:485	\N	"" []	Orphanet:485	"" []	221130	\N	\N	EFO	1	EFO	Pierre Robin syndrome associated with collagen disease	Kniest dysplasia
Orphanet:253	Orphanet:485	\N	"" []	Orphanet:485	"" []	221131	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Kniest dysplasia
Orphanet:93421	Orphanet:485	\N	"" []	Orphanet:485	"" []	221132	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Kniest dysplasia
Orphanet:363294	Orphanet:138041	\N	"" []	Orphanet:485	"" []	576985	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Kniest dysplasia
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:485	"" []	576986	\N	\N	EFO	2	EFO	Primary bone dysplasia	Kniest dysplasia
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:485	"" []	576987	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Kniest dysplasia
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:485	"" []	1160235	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Kniest dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:485	"" []	1160236	\N	\N	EFO	3	EFO	Rare genetic bone disease	Kniest dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:485	"" []	1160237	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Kniest dysplasia
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:485	"" []	1160238	\N	\N	EFO	3	EFO	Rare genetic bone disease	Kniest dysplasia
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:485	"" []	2043656	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Kniest dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:485	"" []	2043657	\N	\N	EFO	4	EFO	genetic disorder	Kniest dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:485	"" []	2043658	\N	\N	EFO	4	EFO	bone disease	Kniest dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:485	"" []	2043659	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Kniest dysplasia
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:485	"" []	3193873	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Kniest dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:485	"" []	5877546	\N	\N	EFO	8	EFO	disease	Kniest dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:485	"" []	3193875	\N	\N	EFO	5	EFO	skeletal system disease	Kniest dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:485	"" []	5416878	\N	\N	EFO	7	EFO	genetic disorder	Kniest dysplasia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:485	"" []	4400096	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Kniest dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:485	"" []	6410251	\N	\N	EFO	9	EFO	disposition	Kniest dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:485	"" []	4400098	\N	\N	EFO	6	EFO	disease	Kniest dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:485	"" []	6808085	\N	\N	EFO	10	EFO	material property	Kniest dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:485	"" []	7048768	\N	\N	EFO	11	EFO	experimental factor	Kniest dysplasia
Orphanet:486	\N	\N	"" []	Orphanet:486	"" []	77401	\N	\N	EFO	0	EFO	Autosomal dominant severe congenital neutropenia	Autosomal dominant severe congenital neutropenia
Orphanet:42738	Orphanet:486	\N	"" []	Orphanet:486	"" []	221133	\N	\N	EFO	1	EFO	Severe congenital neutropenia	Autosomal dominant severe congenital neutropenia
Orphanet:101987	Orphanet:42738	\N	"" []	Orphanet:486	"" []	576988	\N	\N	EFO	2	EFO	Constitutional neutropenia	Autosomal dominant severe congenital neutropenia
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:486	"" []	1160239	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Autosomal dominant severe congenital neutropenia
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:486	"" []	2043660	\N	\N	EFO	4	EFO	Primary immunodeficiency	Autosomal dominant severe congenital neutropenia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:486	"" []	3193877	\N	\N	EFO	5	EFO	Rare genetic immune disease	Autosomal dominant severe congenital neutropenia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:486	"" []	4400100	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant severe congenital neutropenia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:486	"" []	4400101	\N	\N	EFO	6	EFO	immune system disease	Autosomal dominant severe congenital neutropenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:486	"" []	5416880	\N	\N	EFO	7	EFO	disease	Autosomal dominant severe congenital neutropenia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:486	"" []	5416881	\N	\N	EFO	7	EFO	disease	Autosomal dominant severe congenital neutropenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:486	"" []	6152196	\N	\N	EFO	8	EFO	disposition	Autosomal dominant severe congenital neutropenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:486	"" []	6633968	\N	\N	EFO	9	EFO	material property	Autosomal dominant severe congenital neutropenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:486	"" []	6926197	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant severe congenital neutropenia
Orphanet:48652	\N	\N	"" []	Orphanet:48652	"" []	77402	\N	\N	EFO	0	EFO	Monosomy 22q13	Monosomy 22q13
Orphanet:262182	Orphanet:48652	\N	"" []	Orphanet:48652	"" []	221134	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 22	Monosomy 22q13
Orphanet:98142	Orphanet:262182	\N	"" []	Orphanet:48652	"" []	576989	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Monosomy 22q13
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:48652	"" []	1160240	\N	\N	EFO	3	EFO	Autosomal monosomy	Monosomy 22q13
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:48652	"" []	2043661	\N	\N	EFO	4	EFO	Autosomal anomaly	Monosomy 22q13
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:48652	"" []	3193878	\N	\N	EFO	5	EFO	Chromosomal anomaly	Monosomy 22q13
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:48652	"" []	4400102	\N	\N	EFO	6	EFO	genetic disorder	Monosomy 22q13
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:48652	"" []	5416882	\N	\N	EFO	7	EFO	disease	Monosomy 22q13
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:48652	"" []	6152197	\N	\N	EFO	8	EFO	disposition	Monosomy 22q13
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:48652	"" []	6633969	\N	\N	EFO	9	EFO	material property	Monosomy 22q13
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:48652	"" []	6926198	\N	\N	EFO	10	EFO	experimental factor	Monosomy 22q13
Orphanet:487	\N	\N	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	77403	\N	\N	EFO	0	EFO	Krabbe disease	Krabbe disease
Orphanet:183500	Orphanet:487	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	221135	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Krabbe disease
Orphanet:207018	Orphanet:487	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	221136	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Krabbe disease
Orphanet:68356	Orphanet:487	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	221137	\N	\N	EFO	1	EFO	Leukodystrophy	Krabbe disease
Orphanet:68385	Orphanet:487	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	221138	\N	\N	EFO	1	EFO	Neurometabolic disease	Krabbe disease
Orphanet:79225	Orphanet:487	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	221139	\N	\N	EFO	1	EFO	Sphingolipidosis	Krabbe disease
Orphanet:98666	Orphanet:487	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	221140	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Krabbe disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	576990	\N	\N	EFO	2	EFO	neurodegenerative disease	Krabbe disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	576991	\N	\N	EFO	2	EFO	brain disease	Krabbe disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	576992	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Krabbe disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	576993	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Krabbe disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	576994	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Krabbe disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	576995	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Krabbe disease
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	576996	\N	\N	EFO	2	EFO	Lysosomal disease	Krabbe disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	576997	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Krabbe disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	1160241	\N	\N	EFO	3	EFO	nervous system disease	Krabbe disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	1160242	\N	\N	EFO	3	EFO	nervous system disease	Krabbe disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	3193880	\N	\N	EFO	5	EFO	genetic disorder	Krabbe disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	1160244	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Krabbe disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	1160245	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Krabbe disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	1160246	\N	\N	EFO	3	EFO	Retinal dystrophy	Krabbe disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	2043662	\N	\N	EFO	4	EFO	disease	Krabbe disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	5416884	\N	\N	EFO	7	EFO	disease	Krabbe disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	2043664	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Krabbe disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	2043665	\N	\N	EFO	4	EFO	genetic disorder	Krabbe disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	2043666	\N	\N	EFO	4	EFO	metabolic disease	Krabbe disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	2043667	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Krabbe disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	5817771	\N	\N	EFO	8	EFO	disposition	Krabbe disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	3193882	\N	\N	EFO	5	EFO	disease	Krabbe disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	3193883	\N	\N	EFO	5	EFO	Rare genetic eye disease	Krabbe disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	6410252	\N	\N	EFO	9	EFO	material property	Krabbe disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	4400104	\N	\N	EFO	6	EFO	genetic disorder	Krabbe disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	4400105	\N	\N	EFO	6	EFO	eye disease	Krabbe disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	6808086	\N	\N	EFO	10	EFO	experimental factor	Krabbe disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:487	"Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." []	5416885	\N	\N	EFO	7	EFO	disease	Krabbe disease
Orphanet:488	\N	\N	"" []	Orphanet:488	"" []	77404	\N	\N	EFO	0	EFO	Urachal cyst	Urachal cyst
Orphanet:357506	Orphanet:488	\N	"" []	Orphanet:488	"" []	221141	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Urachal cyst
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:488	"" []	576998	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Urachal cyst
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:488	"" []	1160247	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Urachal cyst
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:488	"" []	1160248	\N	\N	EFO	3	EFO	Rare genetic renal disease	Urachal cyst
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:488	"" []	2043668	\N	\N	EFO	4	EFO	genetic disorder	Urachal cyst
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:488	"" []	2043669	\N	\N	EFO	4	EFO	genetic disorder	Urachal cyst
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:488	"" []	3193884	\N	\N	EFO	5	EFO	disease	Urachal cyst
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:488	"" []	4400106	\N	\N	EFO	6	EFO	disposition	Urachal cyst
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:488	"" []	5416886	\N	\N	EFO	7	EFO	material property	Urachal cyst
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:488	"" []	6152198	\N	\N	EFO	8	EFO	experimental factor	Urachal cyst
Orphanet:48818	\N	\N	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	77405	\N	\N	EFO	0	EFO	Aceruloplasminemia	Aceruloplasminemia
Orphanet:309842	Orphanet:48818	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	221142	\N	\N	EFO	1	EFO	Disorder of iron metabolism and transport	Aceruloplasminemia
Orphanet:385	Orphanet:48818	\N	"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	221143	\N	\N	EFO	1	EFO	Neurodegeneration with brain iron accumulation	Aceruloplasminemia
Orphanet:71862	Orphanet:48818	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	221144	\N	\N	EFO	1	EFO	Retinal dystrophy	Aceruloplasminemia
Orphanet:98360	Orphanet:48818	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	221145	\N	\N	EFO	1	EFO	Constitutional anemia due to iron metabolism disorder	Aceruloplasminemia
Orphanet:98713	Orphanet:48818	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	221146	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Aceruloplasminemia
Orphanet:309836	Orphanet:309842	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	576999	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Aceruloplasminemia
Orphanet:158124	Orphanet:385	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	577000	\N	\N	EFO	2	EFO	Genetic dementia	Aceruloplasminemia
Orphanet:183500	Orphanet:385	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	577001	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Aceruloplasminemia
Orphanet:307058	Orphanet:385	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	577002	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Aceruloplasminemia
Orphanet:68385	Orphanet:385	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	577003	\N	\N	EFO	2	EFO	Neurometabolic disease	Aceruloplasminemia
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	577004	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Aceruloplasminemia
Orphanet:248296	Orphanet:98360	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	577005	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Aceruloplasminemia
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	577006	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Aceruloplasminemia
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	1160249	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Aceruloplasminemia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	1160250	\N	\N	EFO	3	EFO	brain disease	Aceruloplasminemia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	1160251	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Aceruloplasminemia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	1160252	\N	\N	EFO	3	EFO	neurodegenerative disease	Aceruloplasminemia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	1160253	\N	\N	EFO	3	EFO	brain disease	Aceruloplasminemia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	1160254	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Aceruloplasminemia
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	1160255	\N	\N	EFO	3	EFO	neurodegenerative disease	Aceruloplasminemia
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	1160256	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Aceruloplasminemia
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	1160257	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Aceruloplasminemia
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	1160258	\N	\N	EFO	3	EFO	Rare genetic eye disease	Aceruloplasminemia
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	1160259	\N	\N	EFO	3	EFO	Rare constitutional anemia	Aceruloplasminemia
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	1160260	\N	\N	EFO	3	EFO	Rare genetic eye disease	Aceruloplasminemia
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	2043670	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Aceruloplasminemia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	2043671	\N	\N	EFO	4	EFO	nervous system disease	Aceruloplasminemia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	3193890	\N	\N	EFO	5	EFO	genetic disorder	Aceruloplasminemia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	2043673	\N	\N	EFO	4	EFO	nervous system disease	Aceruloplasminemia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	2043674	\N	\N	EFO	4	EFO	movement disorder	Aceruloplasminemia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	2043675	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Aceruloplasminemia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	2043676	\N	\N	EFO	4	EFO	genetic disorder	Aceruloplasminemia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	2043677	\N	\N	EFO	4	EFO	eye disease	Aceruloplasminemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	2043678	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Aceruloplasminemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	3193885	\N	\N	EFO	5	EFO	genetic disorder	Aceruloplasminemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	3193886	\N	\N	EFO	5	EFO	metabolic disease	Aceruloplasminemia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	4400109	\N	\N	EFO	6	EFO	disease	Aceruloplasminemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	4134119	\N	\N	EFO	6	EFO	disease	Aceruloplasminemia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	3193889	\N	\N	EFO	5	EFO	nervous system disease	Aceruloplasminemia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	3193891	\N	\N	EFO	5	EFO	disease	Aceruloplasminemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	3193892	\N	\N	EFO	5	EFO	genetic disorder	Aceruloplasminemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	3193893	\N	\N	EFO	5	EFO	hematological system disease	Aceruloplasminemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	4400107	\N	\N	EFO	6	EFO	disease	Aceruloplasminemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	5183018	\N	\N	EFO	7	EFO	disposition	Aceruloplasminemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	4400110	\N	\N	EFO	6	EFO	disease	Aceruloplasminemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	5998382	\N	\N	EFO	8	EFO	material property	Aceruloplasminemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:48818	"Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." []	6551565	\N	\N	EFO	9	EFO	experimental factor	Aceruloplasminemia
Orphanet:49042	\N	\N	"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." []	Orphanet:49042	"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." []	77406	\N	\N	EFO	0	EFO	Dentinogenesis imperfecta	Dentinogenesis imperfecta
Orphanet:167759	Orphanet:49042	\N	"" []	Orphanet:49042	"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." []	221147	\N	\N	EFO	1	EFO	Hereditary dentin defect	Dentinogenesis imperfecta
Orphanet:164001	Orphanet:167759	\N	"" []	Orphanet:49042	"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." []	577007	\N	\N	EFO	2	EFO	Rare odontal or periodontal disorder	Dentinogenesis imperfecta
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:49042	"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." []	1160261	\N	\N	EFO	3	EFO	Rare genetic odontologic disease	Dentinogenesis imperfecta
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:49042	"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." []	2043679	\N	\N	EFO	4	EFO	genetic disorder	Dentinogenesis imperfecta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:49042	"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." []	3193894	\N	\N	EFO	5	EFO	disease	Dentinogenesis imperfecta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:49042	"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." []	4400111	\N	\N	EFO	6	EFO	disposition	Dentinogenesis imperfecta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:49042	"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." []	5416888	\N	\N	EFO	7	EFO	material property	Dentinogenesis imperfecta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:49042	"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." []	6152200	\N	\N	EFO	8	EFO	experimental factor	Dentinogenesis imperfecta
Orphanet:493	\N	\N	"" []	Orphanet:493	"" []	77407	\N	\N	EFO	0	EFO	Familial keratoacanthoma	Familial keratoacanthoma
Orphanet:183487	Orphanet:493	\N	"" []	Orphanet:493	"" []	221148	\N	\N	EFO	1	EFO	Genetic skin tumor	Familial keratoacanthoma
Orphanet:98580	Orphanet:493	\N	"" []	Orphanet:493	"" []	221149	\N	\N	EFO	1	EFO	Palpebral tumor	Familial keratoacanthoma
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:493	"" []	577008	\N	\N	EFO	2	EFO	skin neoplasm	Familial keratoacanthoma
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:493	"" []	577009	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial keratoacanthoma
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:493	"" []	577010	\N	\N	EFO	2	EFO	Rare palpebral disease	Familial keratoacanthoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:493	"" []	1160262	\N	\N	EFO	3	EFO	neoplasm	Familial keratoacanthoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:493	"" []	1160263	\N	\N	EFO	3	EFO	skin disease	Familial keratoacanthoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:493	"" []	1160264	\N	\N	EFO	3	EFO	genetic disorder	Familial keratoacanthoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:493	"" []	1160265	\N	\N	EFO	3	EFO	neoplasm	Familial keratoacanthoma
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:493	"" []	1160266	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Familial keratoacanthoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:493	"" []	2043680	\N	\N	EFO	4	EFO	disease	Familial keratoacanthoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:493	"" []	2043681	\N	\N	EFO	4	EFO	disease	Familial keratoacanthoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:493	"" []	4400113	\N	\N	EFO	6	EFO	disease	Familial keratoacanthoma
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:493	"" []	2043683	\N	\N	EFO	4	EFO	Rare genetic eye disease	Familial keratoacanthoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:493	"" []	5060129	\N	\N	EFO	7	EFO	disposition	Familial keratoacanthoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:493	"" []	3193896	\N	\N	EFO	5	EFO	genetic disorder	Familial keratoacanthoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:493	"" []	3193897	\N	\N	EFO	5	EFO	eye disease	Familial keratoacanthoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:493	"" []	5877548	\N	\N	EFO	8	EFO	material property	Familial keratoacanthoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:493	"" []	4400114	\N	\N	EFO	6	EFO	disease	Familial keratoacanthoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:493	"" []	6470783	\N	\N	EFO	9	EFO	experimental factor	Familial keratoacanthoma
Orphanet:49382	\N	\N	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	77408	\N	\N	EFO	0	EFO	Achromatopsia	Achromatopsia
Orphanet:98620	Orphanet:49382	\N	"" []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	221150	\N	\N	EFO	1	EFO	Syndromic myopia	Achromatopsia
Orphanet:98658	Orphanet:49382	\N	"" []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	221151	\N	\N	EFO	1	EFO	Color-vision disease	Achromatopsia
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	577011	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	Achromatopsia
Orphanet:98657	Orphanet:98658	\N	"" []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	577012	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Achromatopsia
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	1160267	\N	\N	EFO	3	EFO	Rare genetic eye disease	Achromatopsia
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	1160268	\N	\N	EFO	3	EFO	Rare genetic eye disease	Achromatopsia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	2043684	\N	\N	EFO	4	EFO	genetic disorder	Achromatopsia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	2043685	\N	\N	EFO	4	EFO	eye disease	Achromatopsia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	3193898	\N	\N	EFO	5	EFO	disease	Achromatopsia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	3193899	\N	\N	EFO	5	EFO	disease	Achromatopsia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	4400115	\N	\N	EFO	6	EFO	disposition	Achromatopsia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	5416890	\N	\N	EFO	7	EFO	material property	Achromatopsia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:49382	"Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromatopsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide." []	6152201	\N	\N	EFO	8	EFO	experimental factor	Achromatopsia
Orphanet:494	\N	\N	"" []	Orphanet:494	"" []	77409	\N	\N	EFO	0	EFO	Keratoderma hereditarium mutilans	Keratoderma hereditarium mutilans
Orphanet:307773	Orphanet:494	\N	"" []	Orphanet:494	"" []	221152	\N	\N	EFO	1	EFO	Autosomal dominant diffuse mutilating palmoplantar keratoderma	Keratoderma hereditarium mutilans
Orphanet:90642	Orphanet:494	\N	"" []	Orphanet:494	"" []	221153	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Keratoderma hereditarium mutilans
Orphanet:98352	Orphanet:307773	\N	"" []	Orphanet:494	"" []	577013	\N	\N	EFO	2	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Keratoderma hereditarium mutilans
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:494	"" []	577014	\N	\N	EFO	2	EFO	Rare genetic deafness	Keratoderma hereditarium mutilans
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:494	"" []	1160269	\N	\N	EFO	3	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Keratoderma hereditarium mutilans
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:494	"" []	1160270	\N	\N	EFO	3	EFO	genetic disorder	Keratoderma hereditarium mutilans
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:494	"" []	1160271	\N	\N	EFO	3	EFO	auditory system disease	Keratoderma hereditarium mutilans
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:494	"" []	2043686	\N	\N	EFO	4	EFO	Diffuse palmoplantar keratoderma	Keratoderma hereditarium mutilans
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:494	"" []	6633970	\N	\N	EFO	9	EFO	disease	Keratoderma hereditarium mutilans
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:494	"" []	2043688	\N	\N	EFO	4	EFO	sensory system disease	Keratoderma hereditarium mutilans
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:494	"" []	3193900	\N	\N	EFO	5	EFO	Hereditary palmoplantar keratoderma	Keratoderma hereditarium mutilans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:494	"" []	6762391	\N	\N	EFO	10	EFO	disposition	Keratoderma hereditarium mutilans
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:494	"" []	3193902	\N	\N	EFO	5	EFO	nervous system disease	Keratoderma hereditarium mutilans
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:494	"" []	4400116	\N	\N	EFO	6	EFO	Genetic epidermal disorder	Keratoderma hereditarium mutilans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:494	"" []	7015704	\N	\N	EFO	11	EFO	material property	Keratoderma hereditarium mutilans
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:494	"" []	4400118	\N	\N	EFO	6	EFO	disease	Keratoderma hereditarium mutilans
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:494	"" []	5416891	\N	\N	EFO	7	EFO	Rare genetic skin disease	Keratoderma hereditarium mutilans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:494	"" []	7173652	\N	\N	EFO	12	EFO	experimental factor	Keratoderma hereditarium mutilans
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:494	"" []	6152202	\N	\N	EFO	8	EFO	genetic disorder	Keratoderma hereditarium mutilans
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:494	"" []	6152203	\N	\N	EFO	8	EFO	skin disease	Keratoderma hereditarium mutilans
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:494	"" []	6633971	\N	\N	EFO	9	EFO	disease	Keratoderma hereditarium mutilans
Orphanet:495	\N	\N	"" []	Orphanet:495	"" []	77410	\N	\N	EFO	0	EFO	Transgrediens et progrediens palmoplantar keratoderma	Transgrediens et progrediens palmoplantar keratoderma
Orphanet:98349	Orphanet:495	\N	"" []	Orphanet:495	"" []	221154	\N	\N	EFO	1	EFO	Autosomal dominant isolated diffuse palmoplantar keratoderma	Transgrediens et progrediens palmoplantar keratoderma
Orphanet:307148	Orphanet:98349	\N	"" []	Orphanet:495	"" []	577015	\N	\N	EFO	2	EFO	Isolated diffuse palmoplantar keratoderma	Transgrediens et progrediens palmoplantar keratoderma
Orphanet:307141	Orphanet:307148	\N	"" []	Orphanet:495	"" []	1160272	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Transgrediens et progrediens palmoplantar keratoderma
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:495	"" []	2043689	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Transgrediens et progrediens palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:495	"" []	3193903	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Transgrediens et progrediens palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:495	"" []	4400119	\N	\N	EFO	6	EFO	Rare genetic skin disease	Transgrediens et progrediens palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:495	"" []	5416894	\N	\N	EFO	7	EFO	genetic disorder	Transgrediens et progrediens palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:495	"" []	5416895	\N	\N	EFO	7	EFO	skin disease	Transgrediens et progrediens palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:495	"" []	6152204	\N	\N	EFO	8	EFO	disease	Transgrediens et progrediens palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:495	"" []	6152205	\N	\N	EFO	8	EFO	disease	Transgrediens et progrediens palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:495	"" []	6633972	\N	\N	EFO	9	EFO	disposition	Transgrediens et progrediens palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:495	"" []	6926199	\N	\N	EFO	10	EFO	material property	Transgrediens et progrediens palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:495	"" []	7099301	\N	\N	EFO	11	EFO	experimental factor	Transgrediens et progrediens palmoplantar keratoderma
Orphanet:498	\N	\N	"" []	Orphanet:498	"" []	77411	\N	\N	EFO	0	EFO	Keratosis pilaris atrophicans	Keratosis pilaris atrophicans
Orphanet:79360	Orphanet:498	\N	"" []	Orphanet:498	"" []	221155	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Keratosis pilaris atrophicans
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:498	"" []	577016	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Keratosis pilaris atrophicans
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:498	"" []	1160273	\N	\N	EFO	3	EFO	Rare genetic skin disease	Keratosis pilaris atrophicans
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:498	"" []	2043690	\N	\N	EFO	4	EFO	genetic disorder	Keratosis pilaris atrophicans
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:498	"" []	2043691	\N	\N	EFO	4	EFO	skin disease	Keratosis pilaris atrophicans
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:498	"" []	3193904	\N	\N	EFO	5	EFO	disease	Keratosis pilaris atrophicans
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:498	"" []	3193905	\N	\N	EFO	5	EFO	disease	Keratosis pilaris atrophicans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:498	"" []	4400120	\N	\N	EFO	6	EFO	disposition	Keratosis pilaris atrophicans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:498	"" []	5416896	\N	\N	EFO	7	EFO	material property	Keratosis pilaris atrophicans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:498	"" []	6152206	\N	\N	EFO	8	EFO	experimental factor	Keratosis pilaris atrophicans
Orphanet:49827	\N	\N	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	77412	\N	\N	EFO	0	EFO	Thiamine-responsive megaloblastic anemia syndrome	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:183625	Orphanet:49827	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	221156	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:298644	Orphanet:49827	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	221157	\N	\N	EFO	1	EFO	Disorder of thiamine metabolism and transport	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:90642	Orphanet:49827	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	221158	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:98362	Orphanet:49827	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	221159	\N	\N	EFO	1	EFO	Constitutional sideroblastic anemia	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:98415	Orphanet:49827	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	221160	\N	\N	EFO	1	EFO	Vitamin B12- and folate-independent constitutional megaloblastic anemia	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	577017	\N	\N	EFO	2	EFO	diabetes mellitus	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	577018	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Thiamine-responsive megaloblastic anemia syndrome
EFO:0005596	Orphanet:298644	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	577019	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:309827	Orphanet:298644	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	577020	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	577021	\N	\N	EFO	2	EFO	Rare genetic deafness	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:183651	Orphanet:98362	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	577022	\N	\N	EFO	2	EFO	Rare constitutional anemia	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:248296	Orphanet:98415	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	577023	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	1160274	\N	\N	EFO	3	EFO	metabolic disease	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	1160275	\N	\N	EFO	3	EFO	genetic disorder	Thiamine-responsive megaloblastic anemia syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	1160276	\N	\N	EFO	3	EFO	endocrine system disease	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	1160277	\N	\N	EFO	3	EFO	metabolic disease	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	1160278	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	1160279	\N	\N	EFO	3	EFO	genetic disorder	Thiamine-responsive megaloblastic anemia syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	1160280	\N	\N	EFO	3	EFO	auditory system disease	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	2043699	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	1160282	\N	\N	EFO	3	EFO	Rare constitutional anemia	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	4400122	\N	\N	EFO	6	EFO	disease	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	4134121	\N	\N	EFO	6	EFO	disease	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	2043694	\N	\N	EFO	4	EFO	disease	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	2043695	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Thiamine-responsive megaloblastic anemia syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	2043696	\N	\N	EFO	4	EFO	sensory system disease	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	3000370	\N	\N	EFO	5	EFO	genetic disorder	Thiamine-responsive megaloblastic anemia syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	3000371	\N	\N	EFO	5	EFO	hematological system disease	Thiamine-responsive megaloblastic anemia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	5060130	\N	\N	EFO	7	EFO	disposition	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	3193907	\N	\N	EFO	5	EFO	genetic disorder	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	3193908	\N	\N	EFO	5	EFO	metabolic disease	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	3193909	\N	\N	EFO	5	EFO	nervous system disease	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	4134122	\N	\N	EFO	6	EFO	disease	Thiamine-responsive megaloblastic anemia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	5877550	\N	\N	EFO	8	EFO	material property	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	4400123	\N	\N	EFO	6	EFO	disease	Thiamine-responsive megaloblastic anemia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:49827	"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." []	6470785	\N	\N	EFO	9	EFO	experimental factor	Thiamine-responsive megaloblastic anemia syndrome
Orphanet:5	\N	\N	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	77413	\N	\N	EFO	0	EFO	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:181402	Orphanet:5	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	221161	\N	\N	EFO	1	EFO	Syndrome with hypoparathyroidism	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:207018	Orphanet:5	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	221162	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:217591	Orphanet:5	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	221163	\N	\N	EFO	1	EFO	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:309127	Orphanet:5	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	221164	\N	\N	EFO	1	EFO	3-hydroxyacyl-CoA dehydrogenase deficiency	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:98713	Orphanet:5	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	221165	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:208593	Orphanet:181402	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	577024	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	577025	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:99739	Orphanet:217591	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	577026	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:309115	Orphanet:309127	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	577027	\N	\N	EFO	2	EFO	Disorder of mitochondrial fatty acid oxidation	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	577028	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	1160283	\N	\N	EFO	3	EFO	parathyroid disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	1160284	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	1160285	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	1160286	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	1160287	\N	\N	EFO	3	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	1160288	\N	\N	EFO	3	EFO	Rare genetic eye disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	2043700	\N	\N	EFO	4	EFO	calcium metabolic disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	2043701	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	2043702	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	2043703	\N	\N	EFO	4	EFO	genetic disorder	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	2043704	\N	\N	EFO	4	EFO	heart disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	2043705	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	2043706	\N	\N	EFO	4	EFO	genetic disorder	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	2043707	\N	\N	EFO	4	EFO	eye disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	3193912	\N	\N	EFO	5	EFO	metabolic disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	3193913	\N	\N	EFO	5	EFO	genetic disorder	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	3193914	\N	\N	EFO	5	EFO	endocrine system disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	3193915	\N	\N	EFO	5	EFO	genetic disorder	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	5416899	\N	\N	EFO	7	EFO	disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	3193917	\N	\N	EFO	5	EFO	cardiovascular disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	3193918	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	3193919	\N	\N	EFO	5	EFO	disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	5416900	\N	\N	EFO	7	EFO	disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	4400126	\N	\N	EFO	6	EFO	disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	5877551	\N	\N	EFO	8	EFO	disposition	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	4400128	\N	\N	EFO	6	EFO	disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	4400129	\N	\N	EFO	6	EFO	genetic disorder	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	4400130	\N	\N	EFO	6	EFO	metabolic disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	6470786	\N	\N	EFO	9	EFO	material property	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:5	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." []	6848715	\N	\N	EFO	10	EFO	experimental factor	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Orphanet:50	\N	\N	"" []	Orphanet:50	"" []	77414	\N	\N	EFO	0	EFO	Aicardi syndrome	Aicardi syndrome
Orphanet:108987	Orphanet:50	\N	"" []	Orphanet:50	"" []	221166	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Aicardi syndrome
Orphanet:166478	Orphanet:50	\N	"" []	Orphanet:50	"" []	221167	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Aicardi syndrome
Orphanet:183422	Orphanet:50	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:50	"" []	221168	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Aicardi syndrome
Orphanet:269573	Orphanet:50	\N	"" []	Orphanet:50	"" []	221169	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Aicardi syndrome
Orphanet:98464	Orphanet:50	\N	"" []	Orphanet:50	"" []	221170	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Aicardi syndrome
Orphanet:98692	Orphanet:50	\N	"" []	Orphanet:50	"" []	221171	\N	\N	EFO	1	EFO	Nervous system anomaly with eye involvement	Aicardi syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:50	"" []	577029	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Aicardi syndrome
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:50	"" []	577030	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Aicardi syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:50	"" []	577031	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Aicardi syndrome
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:50	"" []	577032	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Aicardi syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:50	"" []	577033	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Aicardi syndrome
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:50	"" []	577034	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Aicardi syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:50	"" []	1160289	\N	\N	EFO	3	EFO	Rare genetic eye disease	Aicardi syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:50	"" []	1160290	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Aicardi syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:50	"" []	1160291	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Aicardi syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50	"" []	1160292	\N	\N	EFO	3	EFO	genetic disorder	Aicardi syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:50	"" []	1160293	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Aicardi syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:50	"" []	1160294	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Aicardi syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:50	"" []	1160295	\N	\N	EFO	3	EFO	Rare genetic eye disease	Aicardi syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50	"" []	2043708	\N	\N	EFO	4	EFO	genetic disorder	Aicardi syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:50	"" []	2043709	\N	\N	EFO	4	EFO	eye disease	Aicardi syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50	"" []	3193923	\N	\N	EFO	5	EFO	genetic disorder	Aicardi syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50	"" []	3193924	\N	\N	EFO	5	EFO	genetic disorder	Aicardi syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50	"" []	4134123	\N	\N	EFO	6	EFO	disease	Aicardi syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:50	"" []	2043713	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Aicardi syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:50	"" []	2043714	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Aicardi syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:50	"" []	2043715	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Aicardi syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50	"" []	3193921	\N	\N	EFO	5	EFO	disease	Aicardi syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:50	"" []	5060131	\N	\N	EFO	7	EFO	disposition	Aicardi syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:50	"" []	5877552	\N	\N	EFO	8	EFO	material property	Aicardi syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:50	"" []	6470787	\N	\N	EFO	9	EFO	experimental factor	Aicardi syndrome
Orphanet:500	\N	\N	"" []	Orphanet:500	"" []	77415	\N	\N	EFO	0	EFO	LEOPARD syndrome	LEOPARD syndrome
Orphanet:139027	Orphanet:500	\N	"" []	Orphanet:500	"" []	221172	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	LEOPARD syndrome
Orphanet:183466	Orphanet:500	\N	"" []	Orphanet:500	"" []	221173	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	LEOPARD syndrome
Orphanet:330206	Orphanet:500	\N	"" []	Orphanet:500	"" []	221174	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	LEOPARD syndrome
Orphanet:90642	Orphanet:500	\N	"" []	Orphanet:500	"" []	221175	\N	\N	EFO	1	EFO	Syndromic genetic deafness	LEOPARD syndrome
Orphanet:98196	Orphanet:500	\N	"" []	Orphanet:500	"" []	221176	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	LEOPARD syndrome
Orphanet:98587	Orphanet:500	\N	"" []	Orphanet:500	"" []	221177	\N	\N	EFO	1	EFO	Palpebral lentiginosis	LEOPARD syndrome
Orphanet:98733	Orphanet:500	\N	"" []	Orphanet:500	"" []	221178	\N	\N	EFO	1	EFO	Noonan syndrome and Noonan-related syndrome	LEOPARD syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:500	"" []	577035	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	LEOPARD syndrome
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:500	"" []	577036	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	LEOPARD syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:500	"" []	577037	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	LEOPARD syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:500	"" []	577038	\N	\N	EFO	2	EFO	Rare genetic deafness	LEOPARD syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:500	"" []	577039	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	LEOPARD syndrome
Orphanet:98586	Orphanet:98587	\N	"" []	Orphanet:500	"" []	577040	\N	\N	EFO	2	EFO	Pigmented palpebral tumor	LEOPARD syndrome
Orphanet:183570	Orphanet:98733	\N	"" []	Orphanet:500	"" []	577041	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	LEOPARD syndrome
Orphanet:217595	Orphanet:98733	\N	"" []	Orphanet:500	"" []	577042	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	LEOPARD syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:500	"" []	2043719	\N	\N	EFO	4	EFO	genetic disorder	LEOPARD syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:500	"" []	1160297	\N	\N	EFO	3	EFO	Rare genetic skin disease	LEOPARD syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:500	"" []	1160298	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	LEOPARD syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:500	"" []	1160299	\N	\N	EFO	3	EFO	genetic disorder	LEOPARD syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:500	"" []	1160300	\N	\N	EFO	3	EFO	auditory system disease	LEOPARD syndrome
Orphanet:98580	Orphanet:98586	\N	"" []	Orphanet:500	"" []	1160301	\N	\N	EFO	3	EFO	Palpebral tumor	LEOPARD syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:500	"" []	1160302	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	LEOPARD syndrome
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:500	"" []	1160303	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	LEOPARD syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:500	"" []	6152208	\N	\N	EFO	8	EFO	disease	LEOPARD syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:500	"" []	2043717	\N	\N	EFO	4	EFO	genetic disorder	LEOPARD syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:500	"" []	2043718	\N	\N	EFO	4	EFO	skin disease	LEOPARD syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:500	"" []	2043720	\N	\N	EFO	4	EFO	sensory system disease	LEOPARD syndrome
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:500	"" []	2043721	\N	\N	EFO	4	EFO	Rare palpebral disease	LEOPARD syndrome
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:500	"" []	2043722	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	LEOPARD syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:500	"" []	6378954	\N	\N	EFO	9	EFO	disposition	LEOPARD syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:500	"" []	3193926	\N	\N	EFO	5	EFO	disease	LEOPARD syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:500	"" []	3193927	\N	\N	EFO	5	EFO	nervous system disease	LEOPARD syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:500	"" []	3193928	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	LEOPARD syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:500	"" []	3193929	\N	\N	EFO	5	EFO	genetic disorder	LEOPARD syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:500	"" []	3193930	\N	\N	EFO	5	EFO	heart disease	LEOPARD syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:500	"" []	6778782	\N	\N	EFO	10	EFO	material property	LEOPARD syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:500	"" []	4400133	\N	\N	EFO	6	EFO	disease	LEOPARD syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:500	"" []	4400134	\N	\N	EFO	6	EFO	Rare genetic eye disease	LEOPARD syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:500	"" []	4400136	\N	\N	EFO	6	EFO	cardiovascular disease	LEOPARD syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:500	"" []	7029977	\N	\N	EFO	11	EFO	experimental factor	LEOPARD syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:500	"" []	5416903	\N	\N	EFO	7	EFO	genetic disorder	LEOPARD syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:500	"" []	5416904	\N	\N	EFO	7	EFO	eye disease	LEOPARD syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:500	"" []	5416905	\N	\N	EFO	7	EFO	disease	LEOPARD syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:500	"" []	6152209	\N	\N	EFO	8	EFO	disease	LEOPARD syndrome
Orphanet:501	\N	\N	"" []	Orphanet:501	"" []	77416	\N	\N	EFO	0	EFO	Lafora disease	Lafora disease
Orphanet:306762	Orphanet:501	\N	"" []	Orphanet:501	"" []	221179	\N	\N	EFO	1	EFO	Progressive epilepsy and/or ataxia with myoclonus as a major feature	Lafora disease
Orphanet:98261	Orphanet:501	\N	"" []	Orphanet:501	"" []	221180	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Lafora disease
Orphanet:306756	Orphanet:306762	\N	"" []	Orphanet:501	"" []	577043	\N	\N	EFO	2	EFO	Epilepsy and/or ataxia with myoclonus as major feature	Lafora disease
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:501	"" []	577044	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Lafora disease
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:501	"" []	577045	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Lafora disease
Orphanet:307067	Orphanet:306756	\N	"" []	Orphanet:501	"" []	1160304	\N	\N	EFO	3	EFO	Rare genetic disease with myoclonus as a major feature	Lafora disease
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:501	"" []	1160305	\N	\N	EFO	3	EFO	Epilepsy syndrome	Lafora disease
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:501	"" []	1160306	\N	\N	EFO	3	EFO	Epilepsy syndrome	Lafora disease
Orphanet:307064	Orphanet:307067	\N	"" []	Orphanet:501	"" []	2043723	\N	\N	EFO	4	EFO	Rare genetic myoclonus	Lafora disease
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:501	"" []	2043724	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Lafora disease
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:501	"" []	3193931	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Lafora disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:501	"" []	3193932	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lafora disease
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:501	"" []	4400137	\N	\N	EFO	6	EFO	movement disorder	Lafora disease
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:501	"" []	4400138	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Lafora disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:501	"" []	5416907	\N	\N	EFO	7	EFO	genetic disorder	Lafora disease
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:501	"" []	5416906	\N	\N	EFO	7	EFO	nervous system disease	Lafora disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:501	"" []	5998387	\N	\N	EFO	8	EFO	disease	Lafora disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:501	"" []	6152211	\N	\N	EFO	8	EFO	disease	Lafora disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:501	"" []	6551567	\N	\N	EFO	9	EFO	disposition	Lafora disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:501	"" []	6889481	\N	\N	EFO	10	EFO	material property	Lafora disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:501	"" []	7086053	\N	\N	EFO	11	EFO	experimental factor	Lafora disease
Orphanet:502	\N	\N	"" []	Orphanet:502	"" []	77417	\N	\N	EFO	0	EFO	Langer-Giedion syndrome	Langer-Giedion syndrome
Orphanet:102283	Orphanet:502	\N	"" []	Orphanet:502	"" []	221181	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Langer-Giedion syndrome
Orphanet:262065	Orphanet:502	\N	"" []	Orphanet:502	"" []	221182	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 8	Langer-Giedion syndrome
Orphanet:324764	Orphanet:502	\N	"" []	Orphanet:502	"" []	221183	\N	\N	EFO	1	EFO	Trichorhinophalangeal syndrome	Langer-Giedion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:502	"" []	577046	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Langer-Giedion syndrome
Orphanet:261801	Orphanet:262065	\N	"" []	Orphanet:502	"" []	577047	\N	\N	EFO	2	EFO	Partial deletion of chromosome 8	Langer-Giedion syndrome
Orphanet:79373	Orphanet:324764	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:502	"" []	577048	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Langer-Giedion syndrome
Orphanet:93436	Orphanet:324764	\N	"" []	Orphanet:502	"" []	577049	\N	\N	EFO	2	EFO	Acromelic dysplasia	Langer-Giedion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:502	"" []	1160307	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Langer-Giedion syndrome
Orphanet:98142	Orphanet:261801	\N	"" []	Orphanet:502	"" []	1160308	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Langer-Giedion syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:502	"" []	1160309	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Langer-Giedion syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:502	"" []	1160310	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Langer-Giedion syndrome
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:502	"" []	1160311	\N	\N	EFO	3	EFO	Primary bone dysplasia	Langer-Giedion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:502	"" []	4400144	\N	\N	EFO	6	EFO	genetic disorder	Langer-Giedion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:502	"" []	2043726	\N	\N	EFO	4	EFO	Autosomal monosomy	Langer-Giedion syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:502	"" []	2043727	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Langer-Giedion syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:502	"" []	2043728	\N	\N	EFO	4	EFO	Rare genetic skin disease	Langer-Giedion syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:502	"" []	2043729	\N	\N	EFO	4	EFO	Rare genetic bone disease	Langer-Giedion syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:502	"" []	2043730	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Langer-Giedion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:502	"" []	6152214	\N	\N	EFO	8	EFO	disease	Langer-Giedion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:502	"" []	3193934	\N	\N	EFO	5	EFO	Autosomal anomaly	Langer-Giedion syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:502	"" []	3193936	\N	\N	EFO	5	EFO	genetic disorder	Langer-Giedion syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:502	"" []	3193937	\N	\N	EFO	5	EFO	skin disease	Langer-Giedion syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:502	"" []	3193938	\N	\N	EFO	5	EFO	genetic disorder	Langer-Giedion syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:502	"" []	3193939	\N	\N	EFO	5	EFO	bone disease	Langer-Giedion syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:502	"" []	3193940	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Langer-Giedion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:502	"" []	6410254	\N	\N	EFO	9	EFO	disposition	Langer-Giedion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:502	"" []	4400141	\N	\N	EFO	6	EFO	Chromosomal anomaly	Langer-Giedion syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:502	"" []	4400142	\N	\N	EFO	6	EFO	disease	Langer-Giedion syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:502	"" []	4400143	\N	\N	EFO	6	EFO	skeletal system disease	Langer-Giedion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:502	"" []	6808088	\N	\N	EFO	10	EFO	material property	Langer-Giedion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:502	"" []	5416910	\N	\N	EFO	7	EFO	genetic disorder	Langer-Giedion syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:502	"" []	5416911	\N	\N	EFO	7	EFO	disease	Langer-Giedion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:502	"" []	7048769	\N	\N	EFO	11	EFO	experimental factor	Langer-Giedion syndrome
Orphanet:503	\N	\N	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	77418	\N	\N	EFO	0	EFO	Autosomal dominant Larsen syndrome	Autosomal dominant Larsen syndrome
Orphanet:139030	Orphanet:503	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	221184	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Autosomal dominant Larsen syndrome
Orphanet:139039	Orphanet:503	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	221185	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Autosomal dominant Larsen syndrome
Orphanet:93425	Orphanet:503	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	221186	\N	\N	EFO	1	EFO	Filamin-related bone disorder	Autosomal dominant Larsen syndrome
Orphanet:93441	Orphanet:503	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	221187	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Autosomal dominant Larsen syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	577050	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant Larsen syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	577051	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Autosomal dominant Larsen syndrome
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	577052	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Autosomal dominant Larsen syndrome
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	577053	\N	\N	EFO	2	EFO	Primary bone dysplasia	Autosomal dominant Larsen syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	4400146	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Larsen syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	1160313	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Autosomal dominant Larsen syndrome
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	1160314	\N	\N	EFO	3	EFO	Rare genetic bone disease	Autosomal dominant Larsen syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	1160315	\N	\N	EFO	3	EFO	Rare genetic bone disease	Autosomal dominant Larsen syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	1160316	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Autosomal dominant Larsen syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	5028452	\N	\N	EFO	7	EFO	disease	Autosomal dominant Larsen syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	2043732	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Autosomal dominant Larsen syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	2043733	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant Larsen syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	2043734	\N	\N	EFO	4	EFO	bone disease	Autosomal dominant Larsen syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	2043735	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant Larsen syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	5817772	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Larsen syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	3193942	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant Larsen syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	3193944	\N	\N	EFO	5	EFO	skeletal system disease	Autosomal dominant Larsen syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	6410255	\N	\N	EFO	9	EFO	material property	Autosomal dominant Larsen syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	4400147	\N	\N	EFO	6	EFO	disease	Autosomal dominant Larsen syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:503	"Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." []	6808089	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Larsen syndrome
Orphanet:505	\N	\N	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	Orphanet:505	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	77419	\N	\N	EFO	0	EFO	Graham Little-Piccardi-Lassueur syndrome	Graham Little-Piccardi-Lassueur syndrome
Orphanet:79364	Orphanet:505	\N	"" []	Orphanet:505	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	221188	\N	\N	EFO	1	EFO	Alopecia	Graham Little-Piccardi-Lassueur syndrome
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:505	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	577054	\N	\N	EFO	2	EFO	Genetic hair anomaly	Graham Little-Piccardi-Lassueur syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:505	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	1160317	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Graham Little-Piccardi-Lassueur syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:505	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	2043736	\N	\N	EFO	4	EFO	Rare genetic skin disease	Graham Little-Piccardi-Lassueur syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:505	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	3193946	\N	\N	EFO	5	EFO	genetic disorder	Graham Little-Piccardi-Lassueur syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:505	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	3193947	\N	\N	EFO	5	EFO	skin disease	Graham Little-Piccardi-Lassueur syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:505	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	4400148	\N	\N	EFO	6	EFO	disease	Graham Little-Piccardi-Lassueur syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:505	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	4400149	\N	\N	EFO	6	EFO	disease	Graham Little-Piccardi-Lassueur syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:505	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	5416913	\N	\N	EFO	7	EFO	disposition	Graham Little-Piccardi-Lassueur syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:505	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	6152215	\N	\N	EFO	8	EFO	material property	Graham Little-Piccardi-Lassueur syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:505	"Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." []	6633974	\N	\N	EFO	9	EFO	experimental factor	Graham Little-Piccardi-Lassueur syndrome
Orphanet:506	\N	\N	"" []	Orphanet:506	"" []	77420	\N	\N	EFO	0	EFO	Leigh syndrome	Leigh syndrome
Orphanet:225703	Orphanet:506	\N	"" []	Orphanet:506	"" []	221189	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	Leigh syndrome
Orphanet:2443	Orphanet:506	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:506	"" []	221190	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Leigh syndrome
Orphanet:68385	Orphanet:506	\N	"" []	Orphanet:506	"" []	221191	\N	\N	EFO	1	EFO	Neurometabolic disease	Leigh syndrome
Orphanet:98666	Orphanet:506	\N	"" []	Orphanet:506	"" []	221192	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Leigh syndrome
Orphanet:98683	Orphanet:506	\N	"" []	Orphanet:506	"" []	221193	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Leigh syndrome
Orphanet:98687	Orphanet:506	\N	"" []	Orphanet:506	"" []	221194	\N	\N	EFO	1	EFO	Supranuclear oculomotor palsy	Leigh syndrome
Orphanet:98695	Orphanet:506	\N	"" []	Orphanet:506	"" []	221195	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	Leigh syndrome
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:506	"" []	577055	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Leigh syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:506	"" []	577056	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder	Leigh syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:506	"" []	577057	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Leigh syndrome
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:506	"" []	577058	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Leigh syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:506	"" []	577059	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Leigh syndrome
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:506	"" []	577060	\N	\N	EFO	2	EFO	Oculomotor palsy	Leigh syndrome
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:506	"" []	577061	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Leigh syndrome
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:506	"" []	1160318	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Leigh syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:506	"" []	1160319	\N	\N	EFO	3	EFO	Mitochondrial disease	Leigh syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:506	"" []	4400150	\N	\N	EFO	6	EFO	genetic disorder	Leigh syndrome
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:506	"" []	1160321	\N	\N	EFO	3	EFO	Retinal dystrophy	Leigh syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:506	"" []	1160322	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Leigh syndrome
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:506	"" []	1160323	\N	\N	EFO	3	EFO	palsy	Leigh syndrome
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:506	"" []	1160324	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Leigh syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:506	"" []	1160325	\N	\N	EFO	3	EFO	Rare genetic eye disease	Leigh syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:506	"" []	2043737	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Leigh syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:506	"" []	2043738	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Leigh syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:506	"" []	2043739	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Leigh syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:506	"" []	5028453	\N	\N	EFO	7	EFO	disease	Leigh syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:506	"" []	2043741	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Leigh syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:506	"" []	2043742	\N	\N	EFO	4	EFO	Rare genetic eye disease	Leigh syndrome
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:506	"" []	2043743	\N	\N	EFO	4	EFO	nervous system disease	Leigh syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:506	"" []	4400155	\N	\N	EFO	6	EFO	genetic disorder	Leigh syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:506	"" []	4400156	\N	\N	EFO	6	EFO	eye disease	Leigh syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:506	"" []	3193948	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Leigh syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:506	"" []	3193949	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Leigh syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:506	"" []	3193950	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Leigh syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:506	"" []	5817773	\N	\N	EFO	8	EFO	disposition	Leigh syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:506	"" []	3193952	\N	\N	EFO	5	EFO	Rare genetic eye disease	Leigh syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:506	"" []	3193955	\N	\N	EFO	5	EFO	disease	Leigh syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:506	"" []	5060136	\N	\N	EFO	7	EFO	disease	Leigh syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:506	"" []	4400151	\N	\N	EFO	6	EFO	genetic disorder	Leigh syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:506	"" []	4400152	\N	\N	EFO	6	EFO	genetic disorder	Leigh syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:506	"" []	4400153	\N	\N	EFO	6	EFO	metabolic disease	Leigh syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:506	"" []	6410256	\N	\N	EFO	9	EFO	material property	Leigh syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:506	"" []	5416914	\N	\N	EFO	7	EFO	disease	Leigh syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:506	"" []	6808090	\N	\N	EFO	10	EFO	experimental factor	Leigh syndrome
Orphanet:508	\N	\N	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	77421	\N	\N	EFO	0	EFO	Leprechaunism	Leprechaunism
Orphanet:181368	Orphanet:508	\N	"" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	221196	\N	\N	EFO	1	EFO	Rare insulin-resistance syndrome	Leprechaunism
Orphanet:330206	Orphanet:508	\N	"" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	221197	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Leprechaunism
Orphanet:363245	Orphanet:508	\N	"" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	221198	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Leprechaunism
Orphanet:79365	Orphanet:508	\N	"" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	221199	\N	\N	EFO	1	EFO	Hypertrichosis	Leprechaunism
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	577062	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Leprechaunism
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	577063	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Leprechaunism
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	577064	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Leprechaunism
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	577065	\N	\N	EFO	2	EFO	Genetic hair anomaly	Leprechaunism
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	1160326	\N	\N	EFO	3	EFO	diabetes mellitus	Leprechaunism
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	1160327	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Leprechaunism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	1160328	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Leprechaunism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	2043749	\N	\N	EFO	4	EFO	genetic disorder	Leprechaunism
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	1160330	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Leprechaunism
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	2043746	\N	\N	EFO	4	EFO	metabolic disease	Leprechaunism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	2043747	\N	\N	EFO	4	EFO	genetic disorder	Leprechaunism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	2043748	\N	\N	EFO	4	EFO	endocrine system disease	Leprechaunism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	4400158	\N	\N	EFO	6	EFO	disease	Leprechaunism
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	2043751	\N	\N	EFO	4	EFO	Rare genetic skin disease	Leprechaunism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	3193958	\N	\N	EFO	5	EFO	disease	Leprechaunism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	3193959	\N	\N	EFO	5	EFO	disease	Leprechaunism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	5060137	\N	\N	EFO	7	EFO	disposition	Leprechaunism
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	3193961	\N	\N	EFO	5	EFO	genetic disorder	Leprechaunism
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	3193962	\N	\N	EFO	5	EFO	skin disease	Leprechaunism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	5877557	\N	\N	EFO	8	EFO	material property	Leprechaunism
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	4400159	\N	\N	EFO	6	EFO	disease	Leprechaunism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:508	"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." []	6470792	\N	\N	EFO	9	EFO	experimental factor	Leprechaunism
Orphanet:50809	\N	\N	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	77422	\N	\N	EFO	0	EFO	Talo-patello-scaphoid osteolysis	Talo-patello-scaphoid osteolysis
Orphanet:93449	Orphanet:50809	\N	"" []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	221200	\N	\N	EFO	1	EFO	Primary osteolysis	Talo-patello-scaphoid osteolysis
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	577066	\N	\N	EFO	2	EFO	Primary bone dysplasia	Talo-patello-scaphoid osteolysis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	1160331	\N	\N	EFO	3	EFO	Rare genetic bone disease	Talo-patello-scaphoid osteolysis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	1160332	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Talo-patello-scaphoid osteolysis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	2043752	\N	\N	EFO	4	EFO	genetic disorder	Talo-patello-scaphoid osteolysis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	2043753	\N	\N	EFO	4	EFO	bone disease	Talo-patello-scaphoid osteolysis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	2043754	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Talo-patello-scaphoid osteolysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	4400162	\N	\N	EFO	6	EFO	disease	Talo-patello-scaphoid osteolysis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	3193964	\N	\N	EFO	5	EFO	skeletal system disease	Talo-patello-scaphoid osteolysis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	3193965	\N	\N	EFO	5	EFO	genetic disorder	Talo-patello-scaphoid osteolysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	5183027	\N	\N	EFO	7	EFO	disposition	Talo-patello-scaphoid osteolysis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	4400161	\N	\N	EFO	6	EFO	disease	Talo-patello-scaphoid osteolysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	5998392	\N	\N	EFO	8	EFO	material property	Talo-patello-scaphoid osteolysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:50809	"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E (see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." []	6551569	\N	\N	EFO	9	EFO	experimental factor	Talo-patello-scaphoid osteolysis
Orphanet:50810	\N	\N	"" []	Orphanet:50810	"" []	77423	\N	\N	EFO	0	EFO	Microlissencephaly - micromelia	Microlissencephaly - micromelia
Orphanet:166478	Orphanet:50810	\N	"" []	Orphanet:50810	"" []	221201	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Microlissencephaly - micromelia
Orphanet:183763	Orphanet:50810	\N	"" []	Orphanet:50810	"" []	221202	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microlissencephaly - micromelia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:50810	"" []	577067	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Microlissencephaly - micromelia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:50810	"" []	577068	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microlissencephaly - micromelia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:50810	"" []	1160333	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microlissencephaly - micromelia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:50810	"" []	1160334	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microlissencephaly - micromelia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50810	"" []	2043755	\N	\N	EFO	4	EFO	genetic disorder	Microlissencephaly - micromelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50810	"" []	3193966	\N	\N	EFO	5	EFO	disease	Microlissencephaly - micromelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:50810	"" []	4400163	\N	\N	EFO	6	EFO	disposition	Microlissencephaly - micromelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:50810	"" []	5416918	\N	\N	EFO	7	EFO	material property	Microlissencephaly - micromelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:50810	"" []	6152217	\N	\N	EFO	8	EFO	experimental factor	Microlissencephaly - micromelia
Orphanet:50811	\N	\N	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	77424	\N	\N	EFO	0	EFO	Lipodystrophy - intellectual disability - deafness	Lipodystrophy - intellectual disability - deafness
Orphanet:363245	Orphanet:50811	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	221203	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Lipodystrophy - intellectual disability - deafness
Orphanet:90642	Orphanet:50811	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	221204	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Lipodystrophy - intellectual disability - deafness
Orphanet:93447	Orphanet:50811	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	221205	\N	\N	EFO	1	EFO	Primary bone dysplasia with defective bone mineralization	Lipodystrophy - intellectual disability - deafness
Orphanet:98305	Orphanet:50811	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	221206	\N	\N	EFO	1	EFO	Genetic lipodystrophy	Lipodystrophy - intellectual disability - deafness
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	577069	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Lipodystrophy - intellectual disability - deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	577070	\N	\N	EFO	2	EFO	Rare genetic deafness	Lipodystrophy - intellectual disability - deafness
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	577071	\N	\N	EFO	2	EFO	Primary bone dysplasia	Lipodystrophy - intellectual disability - deafness
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	577072	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Lipodystrophy - intellectual disability - deafness
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	577073	\N	\N	EFO	2	EFO	Primary lipodystrophy	Lipodystrophy - intellectual disability - deafness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	3193971	\N	\N	EFO	5	EFO	genetic disorder	Lipodystrophy - intellectual disability - deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	1160336	\N	\N	EFO	3	EFO	genetic disorder	Lipodystrophy - intellectual disability - deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	1160337	\N	\N	EFO	3	EFO	auditory system disease	Lipodystrophy - intellectual disability - deafness
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	1160338	\N	\N	EFO	3	EFO	Rare genetic bone disease	Lipodystrophy - intellectual disability - deafness
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	1160339	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Lipodystrophy - intellectual disability - deafness
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	1160340	\N	\N	EFO	3	EFO	genetic disorder	Lipodystrophy - intellectual disability - deafness
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	1160341	\N	\N	EFO	3	EFO	endocrine system disease	Lipodystrophy - intellectual disability - deafness
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	1160342	\N	\N	EFO	3	EFO	Genetic subcutaneous tissue disorder	Lipodystrophy - intellectual disability - deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	4066958	\N	\N	EFO	6	EFO	disease	Lipodystrophy - intellectual disability - deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	2043757	\N	\N	EFO	4	EFO	sensory system disease	Lipodystrophy - intellectual disability - deafness
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	2043758	\N	\N	EFO	4	EFO	genetic disorder	Lipodystrophy - intellectual disability - deafness
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	2043759	\N	\N	EFO	4	EFO	bone disease	Lipodystrophy - intellectual disability - deafness
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	2043760	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lipodystrophy - intellectual disability - deafness
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	2043761	\N	\N	EFO	4	EFO	disease	Lipodystrophy - intellectual disability - deafness
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	2043762	\N	\N	EFO	4	EFO	Rare genetic skin disease	Lipodystrophy - intellectual disability - deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	5060138	\N	\N	EFO	7	EFO	disposition	Lipodystrophy - intellectual disability - deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	3193968	\N	\N	EFO	5	EFO	nervous system disease	Lipodystrophy - intellectual disability - deafness
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	3193970	\N	\N	EFO	5	EFO	skeletal system disease	Lipodystrophy - intellectual disability - deafness
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	3193972	\N	\N	EFO	5	EFO	genetic disorder	Lipodystrophy - intellectual disability - deafness
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	3193973	\N	\N	EFO	5	EFO	skin disease	Lipodystrophy - intellectual disability - deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	5877558	\N	\N	EFO	8	EFO	material property	Lipodystrophy - intellectual disability - deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	4400165	\N	\N	EFO	6	EFO	disease	Lipodystrophy - intellectual disability - deafness
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	4400166	\N	\N	EFO	6	EFO	disease	Lipodystrophy - intellectual disability - deafness
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	4400167	\N	\N	EFO	6	EFO	disease	Lipodystrophy - intellectual disability - deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:50811	"Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." []	6470793	\N	\N	EFO	9	EFO	experimental factor	Lipodystrophy - intellectual disability - deafness
Orphanet:50812	\N	\N	"" []	Orphanet:50812	"" []	77425	\N	\N	EFO	0	EFO	Zellweger-like syndrome without peroxisomal anomalies	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:182073	Orphanet:50812	\N	"" []	Orphanet:50812	"" []	221207	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:254822	Orphanet:50812	\N	"" []	Orphanet:50812	"" []	221208	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder with no known mechanism	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:50812	"" []	577074	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:2443	Orphanet:254822	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:50812	"" []	577075	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:50812	"" []	1160343	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:50812	"" []	1160344	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:50812	"" []	2043763	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:50812	"" []	2043764	\N	\N	EFO	4	EFO	Mitochondrial disease	Zellweger-like syndrome without peroxisomal anomalies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50812	"" []	3193974	\N	\N	EFO	5	EFO	genetic disorder	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:50812	"" []	3193975	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:50812	"" []	3193976	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Zellweger-like syndrome without peroxisomal anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50812	"" []	6152219	\N	\N	EFO	8	EFO	disease	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:50812	"" []	4400169	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:50812	"" []	4400170	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Zellweger-like syndrome without peroxisomal anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:50812	"" []	6470794	\N	\N	EFO	9	EFO	disposition	Zellweger-like syndrome without peroxisomal anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50812	"" []	5416921	\N	\N	EFO	7	EFO	genetic disorder	Zellweger-like syndrome without peroxisomal anomalies
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50812	"" []	5416922	\N	\N	EFO	7	EFO	genetic disorder	Zellweger-like syndrome without peroxisomal anomalies
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:50812	"" []	5416923	\N	\N	EFO	7	EFO	metabolic disease	Zellweger-like syndrome without peroxisomal anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:50812	"" []	6848717	\N	\N	EFO	10	EFO	material property	Zellweger-like syndrome without peroxisomal anomalies
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50812	"" []	6152220	\N	\N	EFO	8	EFO	disease	Zellweger-like syndrome without peroxisomal anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:50812	"" []	7068515	\N	\N	EFO	11	EFO	experimental factor	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:50814	\N	\N	"" []	Orphanet:50814	"" []	77426	\N	\N	EFO	0	EFO	Craniolenticulosutural dysplasia	Craniolenticulosutural dysplasia
Orphanet:139393	Orphanet:50814	\N	"" []	Orphanet:50814	"" []	221209	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniolenticulosutural dysplasia
Orphanet:330206	Orphanet:50814	\N	"" []	Orphanet:50814	"" []	221210	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Craniolenticulosutural dysplasia
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:50814	"" []	577076	\N	\N	EFO	2	EFO	Craniosynostosis	Craniolenticulosutural dysplasia
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:50814	"" []	577077	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Craniolenticulosutural dysplasia
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:50814	"" []	1160345	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniolenticulosutural dysplasia
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:50814	"" []	1160346	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniolenticulosutural dysplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:50814	"" []	1160347	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Craniolenticulosutural dysplasia
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:50814	"" []	2043765	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniolenticulosutural dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:50814	"" []	2043766	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniolenticulosutural dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:50814	"" []	2043767	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniolenticulosutural dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50814	"" []	4400172	\N	\N	EFO	6	EFO	genetic disorder	Craniolenticulosutural dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50814	"" []	3193978	\N	\N	EFO	5	EFO	genetic disorder	Craniolenticulosutural dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:50814	"" []	3193979	\N	\N	EFO	5	EFO	bone disease	Craniolenticulosutural dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:50814	"" []	3193980	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniolenticulosutural dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50814	"" []	5060139	\N	\N	EFO	7	EFO	disease	Craniolenticulosutural dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:50814	"" []	4400171	\N	\N	EFO	6	EFO	skeletal system disease	Craniolenticulosutural dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:50814	"" []	5877559	\N	\N	EFO	8	EFO	disposition	Craniolenticulosutural dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50814	"" []	5416924	\N	\N	EFO	7	EFO	disease	Craniolenticulosutural dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:50814	"" []	6470795	\N	\N	EFO	9	EFO	material property	Craniolenticulosutural dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:50814	"" []	6848718	\N	\N	EFO	10	EFO	experimental factor	Craniolenticulosutural dysplasia
Orphanet:50815	\N	\N	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	77427	\N	\N	EFO	0	EFO	Branchiogenic deafness syndrome	Branchiogenic deafness syndrome
Orphanet:330197	Orphanet:50815	\N	"" []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	221211	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Branchiogenic deafness syndrome
Orphanet:90642	Orphanet:50815	\N	"" []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	221212	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Branchiogenic deafness syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	577078	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Branchiogenic deafness syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	577079	\N	\N	EFO	2	EFO	Rare genetic deafness	Branchiogenic deafness syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	1160348	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Branchiogenic deafness syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	1160349	\N	\N	EFO	3	EFO	genetic disorder	Branchiogenic deafness syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	1160350	\N	\N	EFO	3	EFO	auditory system disease	Branchiogenic deafness syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	2043769	\N	\N	EFO	4	EFO	genetic disorder	Branchiogenic deafness syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	3193982	\N	\N	EFO	5	EFO	disease	Branchiogenic deafness syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	2043771	\N	\N	EFO	4	EFO	sensory system disease	Branchiogenic deafness syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	5416927	\N	\N	EFO	7	EFO	disposition	Branchiogenic deafness syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	3193984	\N	\N	EFO	5	EFO	nervous system disease	Branchiogenic deafness syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	5877560	\N	\N	EFO	8	EFO	material property	Branchiogenic deafness syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	4400175	\N	\N	EFO	6	EFO	disease	Branchiogenic deafness syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:50815	"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." []	6470796	\N	\N	EFO	9	EFO	experimental factor	Branchiogenic deafness syndrome
Orphanet:50942	\N	\N	"" []	Orphanet:50942	"" []	77428	\N	\N	EFO	0	EFO	Keratosis palmoplantaris striata	Keratosis palmoplantaris striata
Orphanet:307846	Orphanet:50942	\N	"" []	Orphanet:50942	"" []	221213	\N	\N	EFO	1	EFO	Isolated focal palmoplantar keratoderma	Keratosis palmoplantaris striata
Orphanet:307837	Orphanet:307846	\N	"" []	Orphanet:50942	"" []	577080	\N	\N	EFO	2	EFO	Focal palmoplantar keratoderma	Keratosis palmoplantaris striata
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:50942	"" []	1160351	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Keratosis palmoplantaris striata
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:50942	"" []	2043772	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Keratosis palmoplantaris striata
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:50942	"" []	3193985	\N	\N	EFO	5	EFO	Rare genetic skin disease	Keratosis palmoplantaris striata
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50942	"" []	4400176	\N	\N	EFO	6	EFO	genetic disorder	Keratosis palmoplantaris striata
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:50942	"" []	4400177	\N	\N	EFO	6	EFO	skin disease	Keratosis palmoplantaris striata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50942	"" []	5416928	\N	\N	EFO	7	EFO	disease	Keratosis palmoplantaris striata
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50942	"" []	5416929	\N	\N	EFO	7	EFO	disease	Keratosis palmoplantaris striata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:50942	"" []	6152222	\N	\N	EFO	8	EFO	disposition	Keratosis palmoplantaris striata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:50942	"" []	6633976	\N	\N	EFO	9	EFO	material property	Keratosis palmoplantaris striata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:50942	"" []	6926201	\N	\N	EFO	10	EFO	experimental factor	Keratosis palmoplantaris striata
Orphanet:50943	\N	\N	"" []	Orphanet:50943	"" []	77429	\N	\N	EFO	0	EFO	Keratolytic winter erythema	Keratolytic winter erythema
Orphanet:79360	Orphanet:50943	\N	"" []	Orphanet:50943	"" []	221214	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Keratolytic winter erythema
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:50943	"" []	577081	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Keratolytic winter erythema
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:50943	"" []	1160352	\N	\N	EFO	3	EFO	Rare genetic skin disease	Keratolytic winter erythema
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50943	"" []	2043773	\N	\N	EFO	4	EFO	genetic disorder	Keratolytic winter erythema
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:50943	"" []	2043774	\N	\N	EFO	4	EFO	skin disease	Keratolytic winter erythema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50943	"" []	3193986	\N	\N	EFO	5	EFO	disease	Keratolytic winter erythema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50943	"" []	3193987	\N	\N	EFO	5	EFO	disease	Keratolytic winter erythema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:50943	"" []	4400178	\N	\N	EFO	6	EFO	disposition	Keratolytic winter erythema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:50943	"" []	5416930	\N	\N	EFO	7	EFO	material property	Keratolytic winter erythema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:50943	"" []	6152223	\N	\N	EFO	8	EFO	experimental factor	Keratolytic winter erythema
Orphanet:50944	\N	\N	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	77430	\N	\N	EFO	0	EFO	Schpf-Schulz-Passarge syndrome	Schpf-Schulz-Passarge syndrome
Orphanet:183422	Orphanet:50944	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	221215	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Schpf-Schulz-Passarge syndrome
Orphanet:183580	Orphanet:50944	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	221216	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Schpf-Schulz-Passarge syndrome
Orphanet:307804	Orphanet:50944	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	221217	\N	\N	EFO	1	EFO	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Schpf-Schulz-Passarge syndrome
Orphanet:79373	Orphanet:50944	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	221218	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Schpf-Schulz-Passarge syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	577082	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Schpf-Schulz-Passarge syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	577083	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Schpf-Schulz-Passarge syndrome
Orphanet:307711	Orphanet:307804	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	577084	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Schpf-Schulz-Passarge syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	577085	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Schpf-Schulz-Passarge syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	577086	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Schpf-Schulz-Passarge syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	1160353	\N	\N	EFO	3	EFO	genetic disorder	Schpf-Schulz-Passarge syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	2043777	\N	\N	EFO	4	EFO	genetic disorder	Schpf-Schulz-Passarge syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	1160355	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Schpf-Schulz-Passarge syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	1160356	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Schpf-Schulz-Passarge syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	1160357	\N	\N	EFO	3	EFO	Rare genetic skin disease	Schpf-Schulz-Passarge syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	5817774	\N	\N	EFO	8	EFO	disease	Schpf-Schulz-Passarge syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	2043776	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Schpf-Schulz-Passarge syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	5416932	\N	\N	EFO	7	EFO	genetic disorder	Schpf-Schulz-Passarge syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	5416933	\N	\N	EFO	7	EFO	skin disease	Schpf-Schulz-Passarge syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	6378955	\N	\N	EFO	9	EFO	disposition	Schpf-Schulz-Passarge syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	3193989	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Schpf-Schulz-Passarge syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	5817775	\N	\N	EFO	8	EFO	disease	Schpf-Schulz-Passarge syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	6778783	\N	\N	EFO	10	EFO	material property	Schpf-Schulz-Passarge syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	4400180	\N	\N	EFO	6	EFO	Rare genetic skin disease	Schpf-Schulz-Passarge syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:50944	"Schpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." []	7029978	\N	\N	EFO	11	EFO	experimental factor	Schpf-Schulz-Passarge syndrome
Orphanet:50945	\N	\N	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	77431	\N	\N	EFO	0	EFO	Blomstrand lethal chondrodysplasia	Blomstrand lethal chondrodysplasia
Orphanet:93443	Orphanet:50945	\N	"" []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	221219	\N	\N	EFO	1	EFO	Neonatal osteosclerotic dysplasia	Blomstrand lethal chondrodysplasia
Orphanet:93444	Orphanet:93443	\N	"" []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	577087	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Blomstrand lethal chondrodysplasia
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	1160358	\N	\N	EFO	3	EFO	Primary bone dysplasia	Blomstrand lethal chondrodysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	2043780	\N	\N	EFO	4	EFO	Rare genetic bone disease	Blomstrand lethal chondrodysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	2043781	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Blomstrand lethal chondrodysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	3193991	\N	\N	EFO	5	EFO	genetic disorder	Blomstrand lethal chondrodysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	3193992	\N	\N	EFO	5	EFO	bone disease	Blomstrand lethal chondrodysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	3193993	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Blomstrand lethal chondrodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	5416936	\N	\N	EFO	7	EFO	disease	Blomstrand lethal chondrodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	4400182	\N	\N	EFO	6	EFO	skeletal system disease	Blomstrand lethal chondrodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	4400183	\N	\N	EFO	6	EFO	genetic disorder	Blomstrand lethal chondrodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	5998397	\N	\N	EFO	8	EFO	disposition	Blomstrand lethal chondrodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	5416935	\N	\N	EFO	7	EFO	disease	Blomstrand lethal chondrodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	6551571	\N	\N	EFO	9	EFO	material property	Blomstrand lethal chondrodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:50945	"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." []	6889482	\N	\N	EFO	10	EFO	experimental factor	Blomstrand lethal chondrodysplasia
Orphanet:51	\N	\N	"" []	Orphanet:51	"" []	77432	\N	\N	EFO	0	EFO	Aicardi-Goutires syndrome	Aicardi-Goutires syndrome
Orphanet:183763	Orphanet:51	\N	"" []	Orphanet:51	"" []	221220	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Aicardi-Goutires syndrome
Orphanet:68356	Orphanet:51	\N	"" []	Orphanet:51	"" []	221221	\N	\N	EFO	1	EFO	Leukodystrophy	Aicardi-Goutires syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:51	"" []	577088	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Aicardi-Goutires syndrome
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:51	"" []	577089	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Aicardi-Goutires syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:51	"" []	1160359	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Aicardi-Goutires syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:51	"" []	2043782	\N	\N	EFO	4	EFO	genetic disorder	Aicardi-Goutires syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51	"" []	3000375	\N	\N	EFO	5	EFO	disease	Aicardi-Goutires syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:51	"" []	4134136	\N	\N	EFO	6	EFO	disposition	Aicardi-Goutires syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:51	"" []	5183032	\N	\N	EFO	7	EFO	material property	Aicardi-Goutires syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:51	"" []	5998398	\N	\N	EFO	8	EFO	experimental factor	Aicardi-Goutires syndrome
Orphanet:510	\N	\N	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	77433	\N	\N	EFO	0	EFO	Lesch-Nyhan syndrome	Lesch-Nyhan syndrome
Orphanet:206428	Orphanet:510	\N	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	221222	\N	\N	EFO	1	EFO	Hypoxanthine-guanine phosphoribosyltransferase deficiency	Lesch-Nyhan syndrome
Orphanet:182076	Orphanet:206428	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	577090	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Lesch-Nyhan syndrome
Orphanet:68385	Orphanet:206428	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	577091	\N	\N	EFO	2	EFO	Neurometabolic disease	Lesch-Nyhan syndrome
Orphanet:79191	Orphanet:206428	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	577092	\N	\N	EFO	2	EFO	Disorder of purine metabolism	Lesch-Nyhan syndrome
Orphanet:93593	Orphanet:206428	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	577093	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Lesch-Nyhan syndrome
Orphanet:98415	Orphanet:206428	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	577094	\N	\N	EFO	2	EFO	Vitamin B12- and folate-independent constitutional megaloblastic anemia	Lesch-Nyhan syndrome
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	1160361	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Lesch-Nyhan syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	1160362	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Lesch-Nyhan syndrome
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	1160363	\N	\N	EFO	3	EFO	Disorder of purine or pyrimidine metabolism	Lesch-Nyhan syndrome
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	1160364	\N	\N	EFO	3	EFO	Rare genetic renal disease	Lesch-Nyhan syndrome
Orphanet:248296	Orphanet:98415	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	1160365	\N	\N	EFO	3	EFO	Constitutional deficiency anemia	Lesch-Nyhan syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	2043784	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Lesch-Nyhan syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	5416938	\N	\N	EFO	7	EFO	genetic disorder	Lesch-Nyhan syndrome
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	2043786	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Lesch-Nyhan syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	2043787	\N	\N	EFO	4	EFO	genetic disorder	Lesch-Nyhan syndrome
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	2043788	\N	\N	EFO	4	EFO	Rare constitutional anemia	Lesch-Nyhan syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	3193995	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Lesch-Nyhan syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	5817776	\N	\N	EFO	8	EFO	disease	Lesch-Nyhan syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	3193997	\N	\N	EFO	5	EFO	genetic disorder	Lesch-Nyhan syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	3193998	\N	\N	EFO	5	EFO	metabolic disease	Lesch-Nyhan syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	3193999	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Lesch-Nyhan syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	4400185	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Lesch-Nyhan syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	6410257	\N	\N	EFO	9	EFO	disposition	Lesch-Nyhan syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	4400188	\N	\N	EFO	6	EFO	disease	Lesch-Nyhan syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	4400189	\N	\N	EFO	6	EFO	genetic disorder	Lesch-Nyhan syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	4400190	\N	\N	EFO	6	EFO	hematological system disease	Lesch-Nyhan syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	6808091	\N	\N	EFO	10	EFO	material property	Lesch-Nyhan syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	5416941	\N	\N	EFO	7	EFO	disease	Lesch-Nyhan syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:510	"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." []	7048770	\N	\N	EFO	11	EFO	experimental factor	Lesch-Nyhan syndrome
Orphanet:51083	\N	\N	"" []	Orphanet:51083	"" []	77434	\N	\N	EFO	0	EFO	Familial short QT syndrome	Familial short QT syndrome
Orphanet:101934	Orphanet:51083	\N	"" []	Orphanet:51083	"" []	221223	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Familial short QT syndrome
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:51083	"" []	577095	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Familial short QT syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:51083	"" []	1160366	\N	\N	EFO	3	EFO	genetic disorder	Familial short QT syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:51083	"" []	1160367	\N	\N	EFO	3	EFO	heart disease	Familial short QT syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51083	"" []	2043789	\N	\N	EFO	4	EFO	disease	Familial short QT syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:51083	"" []	2043790	\N	\N	EFO	4	EFO	cardiovascular disease	Familial short QT syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:51083	"" []	4400192	\N	\N	EFO	6	EFO	disposition	Familial short QT syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51083	"" []	3194001	\N	\N	EFO	5	EFO	disease	Familial short QT syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:51083	"" []	5183034	\N	\N	EFO	7	EFO	material property	Familial short QT syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:51083	"" []	5998400	\N	\N	EFO	8	EFO	experimental factor	Familial short QT syndrome
Orphanet:51084	\N	\N	"Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." []	Orphanet:51084	"Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." []	77435	\N	\N	EFO	0	EFO	Torsade-de-pointes syndrome with short coupling interval	Torsade-de-pointes syndrome with short coupling interval
Orphanet:101934	Orphanet:51084	\N	"" []	Orphanet:51084	"Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." []	221224	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Torsade-de-pointes syndrome with short coupling interval
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:51084	"Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." []	577096	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Torsade-de-pointes syndrome with short coupling interval
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:51084	"Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." []	1160368	\N	\N	EFO	3	EFO	genetic disorder	Torsade-de-pointes syndrome with short coupling interval
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:51084	"Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." []	1160369	\N	\N	EFO	3	EFO	heart disease	Torsade-de-pointes syndrome with short coupling interval
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51084	"Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." []	2043791	\N	\N	EFO	4	EFO	disease	Torsade-de-pointes syndrome with short coupling interval
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:51084	"Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." []	2043792	\N	\N	EFO	4	EFO	cardiovascular disease	Torsade-de-pointes syndrome with short coupling interval
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:51084	"Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." []	4400194	\N	\N	EFO	6	EFO	disposition	Torsade-de-pointes syndrome with short coupling interval
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51084	"Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." []	3194003	\N	\N	EFO	5	EFO	disease	Torsade-de-pointes syndrome with short coupling interval
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:51084	"Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." []	5183035	\N	\N	EFO	7	EFO	material property	Torsade-de-pointes syndrome with short coupling interval
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:51084	"Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." []	5998401	\N	\N	EFO	8	EFO	experimental factor	Torsade-de-pointes syndrome with short coupling interval
Orphanet:511	\N	\N	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	Orphanet:511	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	77436	\N	\N	EFO	0	EFO	Maple syrup urine disease	Maple syrup urine disease
Orphanet:79197	Orphanet:511	\N	"" []	Orphanet:511	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	221225	\N	\N	EFO	1	EFO	Disorder of branched-chain amino acid metabolism	Maple syrup urine disease
Orphanet:79062	Orphanet:79197	\N	"" []	Orphanet:511	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	577097	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Maple syrup urine disease
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:511	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	1160370	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Maple syrup urine disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:511	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	2043793	\N	\N	EFO	4	EFO	genetic disorder	Maple syrup urine disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:511	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	2043794	\N	\N	EFO	4	EFO	metabolic disease	Maple syrup urine disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:511	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	3194004	\N	\N	EFO	5	EFO	disease	Maple syrup urine disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:511	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	3194005	\N	\N	EFO	5	EFO	disease	Maple syrup urine disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:511	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	4400195	\N	\N	EFO	6	EFO	disposition	Maple syrup urine disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:511	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	5416944	\N	\N	EFO	7	EFO	material property	Maple syrup urine disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:511	"Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine responsive MSUD (see these terms)." []	6152226	\N	\N	EFO	8	EFO	experimental factor	Maple syrup urine disease
Orphanet:51188	\N	\N	"" []	Orphanet:51188	"" []	77437	\N	\N	EFO	0	EFO	Ethylmalonic encephalopathy	Ethylmalonic encephalopathy
Orphanet:254837	Orphanet:51188	\N	"" []	Orphanet:51188	"" []	221226	\N	\N	EFO	1	EFO	Unspecified mitochondrial disorder	Ethylmalonic encephalopathy
Orphanet:68380	Orphanet:254837	\N	"" []	Orphanet:51188	"" []	577098	\N	\N	EFO	2	EFO	Mitochondrial disease	Ethylmalonic encephalopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:51188	"" []	1160371	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Ethylmalonic encephalopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:51188	"" []	1160372	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Ethylmalonic encephalopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:51188	"" []	2043795	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ethylmalonic encephalopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:51188	"" []	2043796	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Ethylmalonic encephalopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:51188	"" []	3194006	\N	\N	EFO	5	EFO	genetic disorder	Ethylmalonic encephalopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:51188	"" []	3194007	\N	\N	EFO	5	EFO	genetic disorder	Ethylmalonic encephalopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:51188	"" []	3194008	\N	\N	EFO	5	EFO	metabolic disease	Ethylmalonic encephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51188	"" []	4400196	\N	\N	EFO	6	EFO	disease	Ethylmalonic encephalopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51188	"" []	4400197	\N	\N	EFO	6	EFO	disease	Ethylmalonic encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:51188	"" []	5416945	\N	\N	EFO	7	EFO	disposition	Ethylmalonic encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:51188	"" []	6152227	\N	\N	EFO	8	EFO	material property	Ethylmalonic encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:51188	"" []	6633978	\N	\N	EFO	9	EFO	experimental factor	Ethylmalonic encephalopathy
Orphanet:512	\N	\N	"" []	Orphanet:512	"" []	77438	\N	\N	EFO	0	EFO	Metachromatic leukodystrophy	Metachromatic leukodystrophy
Orphanet:207018	Orphanet:512	\N	"" []	Orphanet:512	"" []	221227	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Metachromatic leukodystrophy
Orphanet:68356	Orphanet:512	\N	"" []	Orphanet:512	"" []	221228	\N	\N	EFO	1	EFO	Leukodystrophy	Metachromatic leukodystrophy
Orphanet:68385	Orphanet:512	\N	"" []	Orphanet:512	"" []	221229	\N	\N	EFO	1	EFO	Neurometabolic disease	Metachromatic leukodystrophy
Orphanet:79225	Orphanet:512	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:512	"" []	221230	\N	\N	EFO	1	EFO	Sphingolipidosis	Metachromatic leukodystrophy
Orphanet:98543	Orphanet:512	\N	"" []	Orphanet:512	"" []	221231	\N	\N	EFO	1	EFO	Metabolic disease with dementia	Metachromatic leukodystrophy
Orphanet:98666	Orphanet:512	\N	"" []	Orphanet:512	"" []	221232	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Metachromatic leukodystrophy
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:512	"" []	577099	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Metachromatic leukodystrophy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:512	"" []	577100	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:512	"" []	577101	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:512	"" []	577102	\N	\N	EFO	2	EFO	Lysosomal disease	Metachromatic leukodystrophy
Orphanet:158124	Orphanet:98543	\N	"" []	Orphanet:512	"" []	577103	\N	\N	EFO	2	EFO	Genetic dementia	Metachromatic leukodystrophy
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:512	"" []	577104	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Metachromatic leukodystrophy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:512	"" []	1160373	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Metachromatic leukodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:512	"" []	3194009	\N	\N	EFO	5	EFO	genetic disorder	Metachromatic leukodystrophy
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:512	"" []	1160375	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Metachromatic leukodystrophy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:512	"" []	1160376	\N	\N	EFO	3	EFO	brain disease	Metachromatic leukodystrophy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:512	"" []	1160377	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:512	"" []	1160378	\N	\N	EFO	3	EFO	Retinal dystrophy	Metachromatic leukodystrophy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:512	"" []	2043797	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Metachromatic leukodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:512	"" []	5416947	\N	\N	EFO	7	EFO	disease	Metachromatic leukodystrophy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:512	"" []	2043799	\N	\N	EFO	4	EFO	genetic disorder	Metachromatic leukodystrophy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:512	"" []	2043800	\N	\N	EFO	4	EFO	metabolic disease	Metachromatic leukodystrophy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:512	"" []	2043801	\N	\N	EFO	4	EFO	nervous system disease	Metachromatic leukodystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:512	"" []	2043803	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Metachromatic leukodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:512	"" []	5817777	\N	\N	EFO	8	EFO	disposition	Metachromatic leukodystrophy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:512	"" []	3194011	\N	\N	EFO	5	EFO	disease	Metachromatic leukodystrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:512	"" []	3194012	\N	\N	EFO	5	EFO	disease	Metachromatic leukodystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:512	"" []	3194013	\N	\N	EFO	5	EFO	Rare genetic eye disease	Metachromatic leukodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:512	"" []	6410258	\N	\N	EFO	9	EFO	material property	Metachromatic leukodystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:512	"" []	4400199	\N	\N	EFO	6	EFO	genetic disorder	Metachromatic leukodystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:512	"" []	4400200	\N	\N	EFO	6	EFO	eye disease	Metachromatic leukodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:512	"" []	6808092	\N	\N	EFO	10	EFO	experimental factor	Metachromatic leukodystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:512	"" []	5416948	\N	\N	EFO	7	EFO	disease	Metachromatic leukodystrophy
Orphanet:51208	\N	\N	"" []	Orphanet:51208	"" []	77439	\N	\N	EFO	0	EFO	Formiminoglutamic aciduria	Formiminoglutamic aciduria
EFO:0005596	Orphanet:51208	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:51208	"" []	221233	\N	\N	EFO	1	EFO	vitamin metabolic disorder	Formiminoglutamic aciduria
Orphanet:285657	Orphanet:51208	\N	"" []	Orphanet:51208	"" []	221234	\N	\N	EFO	1	EFO	Disorder of folate metabolism and transport	Formiminoglutamic aciduria
Orphanet:98408	Orphanet:51208	\N	"" []	Orphanet:51208	"" []	221235	\N	\N	EFO	1	EFO	Constitutional megaloblastic anemia due to folate metabolism disorder	Formiminoglutamic aciduria
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:51208	"" []	577105	\N	\N	EFO	2	EFO	metabolic disease	Formiminoglutamic aciduria
Orphanet:309827	Orphanet:285657	\N	"" []	Orphanet:51208	"" []	577106	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Formiminoglutamic aciduria
Orphanet:248296	Orphanet:98408	\N	"" []	Orphanet:51208	"" []	577107	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Formiminoglutamic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51208	"" []	4400203	\N	\N	EFO	6	EFO	disease	Formiminoglutamic aciduria
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:51208	"" []	1160380	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Formiminoglutamic aciduria
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:51208	"" []	1160381	\N	\N	EFO	3	EFO	Rare constitutional anemia	Formiminoglutamic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:51208	"" []	5028454	\N	\N	EFO	7	EFO	disposition	Formiminoglutamic aciduria
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:51208	"" []	2043805	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Formiminoglutamic aciduria
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:51208	"" []	2043806	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Formiminoglutamic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:51208	"" []	5817778	\N	\N	EFO	8	EFO	material property	Formiminoglutamic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:51208	"" []	3194015	\N	\N	EFO	5	EFO	genetic disorder	Formiminoglutamic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:51208	"" []	3194016	\N	\N	EFO	5	EFO	metabolic disease	Formiminoglutamic aciduria
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:51208	"" []	3194017	\N	\N	EFO	5	EFO	genetic disorder	Formiminoglutamic aciduria
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:51208	"" []	3194018	\N	\N	EFO	5	EFO	hematological system disease	Formiminoglutamic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:51208	"" []	6410259	\N	\N	EFO	9	EFO	experimental factor	Formiminoglutamic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51208	"" []	4400202	\N	\N	EFO	6	EFO	disease	Formiminoglutamic aciduria
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51208	"" []	4400204	\N	\N	EFO	6	EFO	disease	Formiminoglutamic aciduria
Orphanet:51577	\N	\N	"" []	Orphanet:51577	"" []	77440	\N	\N	EFO	0	EFO	Cobblestone lissencephaly	Cobblestone lissencephaly
Orphanet:48471	Orphanet:51577	\N	"" []	Orphanet:51577	"" []	221236	\N	\N	EFO	1	EFO	Lissencephaly	Cobblestone lissencephaly
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:51577	"" []	577108	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Cobblestone lissencephaly
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:51577	"" []	577109	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Cobblestone lissencephaly
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:51577	"" []	577110	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Cobblestone lissencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:51577	"" []	1160382	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Cobblestone lissencephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:51577	"" []	1160383	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Cobblestone lissencephaly
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:51577	"" []	1160384	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Cobblestone lissencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:51577	"" []	2043807	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cobblestone lissencephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:51577	"" []	2043808	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cobblestone lissencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:51577	"" []	2043809	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cobblestone lissencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:51577	"" []	2043810	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cobblestone lissencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:51577	"" []	3194019	\N	\N	EFO	5	EFO	genetic disorder	Cobblestone lissencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:51577	"" []	3194020	\N	\N	EFO	5	EFO	genetic disorder	Cobblestone lissencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51577	"" []	4400205	\N	\N	EFO	6	EFO	disease	Cobblestone lissencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:51577	"" []	5416949	\N	\N	EFO	7	EFO	disposition	Cobblestone lissencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:51577	"" []	6152228	\N	\N	EFO	8	EFO	material property	Cobblestone lissencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:51577	"" []	6633979	\N	\N	EFO	9	EFO	experimental factor	Cobblestone lissencephaly
Orphanet:51608	\N	\N	"" []	Orphanet:51608	"" []	77441	\N	\N	EFO	0	EFO	Generalized arterial calcification of infancy	Generalized arterial calcification of infancy
EFO:0005775	Orphanet:51608	\N	"An artery disease that is characterized by degeneration of the cells composing the aortic wall." []	Orphanet:51608	"" []	221237	\N	\N	EFO	1	EFO	aortic disease	Generalized arterial calcification of infancy
Orphanet:233655	Orphanet:51608	\N	"" []	Orphanet:51608	"" []	221238	\N	\N	EFO	1	EFO	Rare genetic vascular disease	Generalized arterial calcification of infancy
EFO:0004264	EFO:0005775	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:51608	"" []	577111	\N	\N	EFO	2	EFO	vascular disease	Generalized arterial calcification of infancy
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:51608	"" []	577112	\N	\N	EFO	2	EFO	genetic disorder	Generalized arterial calcification of infancy
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:51608	"" []	577113	\N	\N	EFO	2	EFO	vascular disease	Generalized arterial calcification of infancy
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:51608	"" []	1160385	\N	\N	EFO	3	EFO	cardiovascular disease	Generalized arterial calcification of infancy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51608	"" []	1160386	\N	\N	EFO	3	EFO	disease	Generalized arterial calcification of infancy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51608	"" []	2043811	\N	\N	EFO	4	EFO	disease	Generalized arterial calcification of infancy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:51608	"" []	3194021	\N	\N	EFO	5	EFO	disposition	Generalized arterial calcification of infancy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:51608	"" []	4134138	\N	\N	EFO	6	EFO	material property	Generalized arterial calcification of infancy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:51608	"" []	5183037	\N	\N	EFO	7	EFO	experimental factor	Generalized arterial calcification of infancy
Orphanet:51636	\N	\N	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	77442	\N	\N	EFO	0	EFO	WHIM syndrome	WHIM syndrome
Orphanet:331184	Orphanet:51636	\N	"" []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	221239	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	WHIM syndrome
Orphanet:331193	Orphanet:51636	\N	"" []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	221240	\N	\N	EFO	1	EFO	Other immunodeficiency syndromes due to defects in innate immunity	WHIM syndrome
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	577114	\N	\N	EFO	2	EFO	Constitutional neutropenia	WHIM syndrome
Orphanet:101988	Orphanet:331193	\N	"" []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	577115	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	WHIM syndrome
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	1160387	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	WHIM syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	2043813	\N	\N	EFO	4	EFO	Primary immunodeficiency	WHIM syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	3000377	\N	\N	EFO	5	EFO	Rare genetic immune disease	WHIM syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	4134139	\N	\N	EFO	6	EFO	genetic disorder	WHIM syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	4134140	\N	\N	EFO	6	EFO	immune system disease	WHIM syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	5183038	\N	\N	EFO	7	EFO	disease	WHIM syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	5183039	\N	\N	EFO	7	EFO	disease	WHIM syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	5998403	\N	\N	EFO	8	EFO	disposition	WHIM syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	6551573	\N	\N	EFO	9	EFO	material property	WHIM syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:51636	"WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." []	6889483	\N	\N	EFO	10	EFO	experimental factor	WHIM syndrome
Orphanet:52	\N	\N	"" []	Orphanet:52	"" []	77443	\N	\N	EFO	0	EFO	Alagille syndrome	Alagille syndrome
Orphanet:108973	Orphanet:52	\N	"" []	Orphanet:52	"" []	221241	\N	\N	EFO	1	EFO	Syndromic visceral malformation	Alagille syndrome
Orphanet:108987	Orphanet:52	\N	"" []	Orphanet:52	"" []	221242	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Alagille syndrome
Orphanet:156532	Orphanet:52	\N	"" []	Orphanet:52	"" []	221243	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Alagille syndrome
Orphanet:156607	Orphanet:52	\N	"" []	Orphanet:52	"" []	221244	\N	\N	EFO	1	EFO	Genetic biliary tract disease	Alagille syndrome
Orphanet:183422	Orphanet:52	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:52	"" []	221245	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Alagille syndrome
Orphanet:330206	Orphanet:52	\N	"" []	Orphanet:52	"" []	221246	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Alagille syndrome
Orphanet:93547	Orphanet:52	\N	"" []	Orphanet:52	"" []	221247	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Alagille syndrome
Orphanet:98638	Orphanet:52	\N	"" []	Orphanet:52	"" []	221248	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Alagille syndrome
Orphanet:183548	Orphanet:108973	\N	"" []	Orphanet:52	"" []	577116	\N	\N	EFO	2	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Alagille syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:52	"" []	577117	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Alagille syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:52	"" []	577118	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Alagille syndrome
Orphanet:156601	Orphanet:156607	\N	"" []	Orphanet:52	"" []	577119	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Alagille syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:52	"" []	577120	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Alagille syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:52	"" []	577121	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Alagille syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:52	"" []	577122	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Alagille syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:52	"" []	577123	\N	\N	EFO	2	EFO	Rare genetic eye disease	Alagille syndrome
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:52	"" []	1160389	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:52	"" []	1160390	\N	\N	EFO	3	EFO	Rare genetic eye disease	Alagille syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:52	"" []	1160391	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52	"" []	1160392	\N	\N	EFO	3	EFO	genetic disorder	Alagille syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:52	"" []	1160393	\N	\N	EFO	3	EFO	heart disease	Alagille syndrome
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:52	"" []	1160394	\N	\N	EFO	3	EFO	digestive system disease	Alagille syndrome
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52	"" []	1160395	\N	\N	EFO	3	EFO	genetic disorder	Alagille syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52	"" []	1160396	\N	\N	EFO	3	EFO	genetic disorder	Alagille syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:52	"" []	1160397	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:52	"" []	1160398	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Alagille syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:52	"" []	1160399	\N	\N	EFO	3	EFO	Rare genetic renal disease	Alagille syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52	"" []	2043816	\N	\N	EFO	4	EFO	genetic disorder	Alagille syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:52	"" []	2043817	\N	\N	EFO	4	EFO	eye disease	Alagille syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52	"" []	2043815	\N	\N	EFO	4	EFO	genetic disorder	Alagille syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52	"" []	3000378	\N	\N	EFO	5	EFO	disease	Alagille syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:52	"" []	2043819	\N	\N	EFO	4	EFO	cardiovascular disease	Alagille syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52	"" []	2043820	\N	\N	EFO	4	EFO	disease	Alagille syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52	"" []	2043821	\N	\N	EFO	4	EFO	genetic disorder	Alagille syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52	"" []	3000379	\N	\N	EFO	5	EFO	disease	Alagille syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52	"" []	4134141	\N	\N	EFO	6	EFO	disposition	Alagille syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52	"" []	3194026	\N	\N	EFO	5	EFO	disease	Alagille syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52	"" []	5183040	\N	\N	EFO	7	EFO	material property	Alagille syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52	"" []	5998404	\N	\N	EFO	8	EFO	experimental factor	Alagille syndrome
Orphanet:52022	\N	\N	"" []	Orphanet:52022	"" []	77444	\N	\N	EFO	0	EFO	Potocki-Shaffer syndrome	Potocki-Shaffer syndrome
Orphanet:261947	Orphanet:52022	\N	"" []	Orphanet:52022	"" []	221249	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 11	Potocki-Shaffer syndrome
Orphanet:330197	Orphanet:52022	\N	"" []	Orphanet:52022	"" []	221250	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Potocki-Shaffer syndrome
Orphanet:261816	Orphanet:261947	\N	"" []	Orphanet:52022	"" []	577124	\N	\N	EFO	2	EFO	Partial deletion of chromosome 11	Potocki-Shaffer syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:52022	"" []	577125	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Potocki-Shaffer syndrome
Orphanet:98142	Orphanet:261816	\N	"" []	Orphanet:52022	"" []	1160402	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Potocki-Shaffer syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:52022	"" []	1160403	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Potocki-Shaffer syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:52022	"" []	2043823	\N	\N	EFO	4	EFO	Autosomal monosomy	Potocki-Shaffer syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52022	"" []	2043824	\N	\N	EFO	4	EFO	genetic disorder	Potocki-Shaffer syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:52022	"" []	3194027	\N	\N	EFO	5	EFO	Autosomal anomaly	Potocki-Shaffer syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52022	"" []	6152230	\N	\N	EFO	8	EFO	disease	Potocki-Shaffer syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:52022	"" []	4400210	\N	\N	EFO	6	EFO	Chromosomal anomaly	Potocki-Shaffer syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52022	"" []	6410260	\N	\N	EFO	9	EFO	disposition	Potocki-Shaffer syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52022	"" []	5416952	\N	\N	EFO	7	EFO	genetic disorder	Potocki-Shaffer syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52022	"" []	6808093	\N	\N	EFO	10	EFO	material property	Potocki-Shaffer syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52022	"" []	7048771	\N	\N	EFO	11	EFO	experimental factor	Potocki-Shaffer syndrome
Orphanet:52047	\N	\N	"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." []	Orphanet:52047	"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." []	77445	\N	\N	EFO	0	EFO	Braddock syndrome	Braddock syndrome
Orphanet:330206	Orphanet:52047	\N	"" []	Orphanet:52047	"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." []	221251	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Braddock syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:52047	"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." []	577126	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Braddock syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:52047	"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." []	1160404	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Braddock syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52047	"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." []	2043825	\N	\N	EFO	4	EFO	genetic disorder	Braddock syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52047	"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." []	3194029	\N	\N	EFO	5	EFO	disease	Braddock syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52047	"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." []	4400212	\N	\N	EFO	6	EFO	disposition	Braddock syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52047	"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." []	5416954	\N	\N	EFO	7	EFO	material property	Braddock syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52047	"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." []	6152232	\N	\N	EFO	8	EFO	experimental factor	Braddock syndrome
Orphanet:52054	\N	\N	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	77446	\N	\N	EFO	0	EFO	Craniosynostosis - intracranial calcifications	Craniosynostosis - intracranial calcifications
Orphanet:139393	Orphanet:52054	\N	"" []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	221252	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniosynostosis - intracranial calcifications
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	577127	\N	\N	EFO	2	EFO	Craniosynostosis	Craniosynostosis - intracranial calcifications
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	1160405	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniosynostosis - intracranial calcifications
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	1160406	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniosynostosis - intracranial calcifications
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	2043826	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - intracranial calcifications
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	2043827	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniosynostosis - intracranial calcifications
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	2043828	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniosynostosis - intracranial calcifications
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	4400215	\N	\N	EFO	6	EFO	genetic disorder	Craniosynostosis - intracranial calcifications
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	3194031	\N	\N	EFO	5	EFO	genetic disorder	Craniosynostosis - intracranial calcifications
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	3194032	\N	\N	EFO	5	EFO	bone disease	Craniosynostosis - intracranial calcifications
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	3194033	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - intracranial calcifications
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	5183041	\N	\N	EFO	7	EFO	disease	Craniosynostosis - intracranial calcifications
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	4400214	\N	\N	EFO	6	EFO	skeletal system disease	Craniosynostosis - intracranial calcifications
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	5998405	\N	\N	EFO	8	EFO	disposition	Craniosynostosis - intracranial calcifications
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	5416956	\N	\N	EFO	7	EFO	disease	Craniosynostosis - intracranial calcifications
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	6551574	\N	\N	EFO	9	EFO	material property	Craniosynostosis - intracranial calcifications
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52054	"Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." []	6889484	\N	\N	EFO	10	EFO	experimental factor	Craniosynostosis - intracranial calcifications
Orphanet:52055	\N	\N	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	77447	\N	\N	EFO	0	EFO	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:102283	Orphanet:52055	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	221253	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:108987	Orphanet:52055	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	221254	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:269573	Orphanet:52055	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	221255	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:98464	Orphanet:52055	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	221256	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:98558	Orphanet:52055	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	221257	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	577128	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	577129	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	577130	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	577131	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	577132	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	1160407	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	1160408	\N	\N	EFO	3	EFO	Rare genetic eye disease	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	1160409	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	1160410	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	1160411	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	3194036	\N	\N	EFO	5	EFO	genetic disorder	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	2043830	\N	\N	EFO	4	EFO	genetic disorder	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	2043831	\N	\N	EFO	4	EFO	eye disease	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	2043832	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	2043833	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	2043834	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	4134142	\N	\N	EFO	6	EFO	disease	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	3194035	\N	\N	EFO	5	EFO	disease	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	3194037	\N	\N	EFO	5	EFO	genetic disorder	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	5183042	\N	\N	EFO	7	EFO	disposition	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	5998406	\N	\N	EFO	8	EFO	material property	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52055	"Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." []	6551575	\N	\N	EFO	9	EFO	experimental factor	Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Orphanet:52056	\N	\N	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	77448	\N	\N	EFO	0	EFO	Ulnar/fibula ray defect - brachydactyly	Ulnar/fibula ray defect - brachydactyly
Orphanet:69028	Orphanet:52056	\N	"" []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	221258	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Ulnar/fibula ray defect - brachydactyly
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	577133	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Ulnar/fibula ray defect - brachydactyly
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	577134	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Ulnar/fibula ray defect - brachydactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	1160412	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Ulnar/fibula ray defect - brachydactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	1160413	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Ulnar/fibula ray defect - brachydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	2043835	\N	\N	EFO	4	EFO	Rare genetic bone disease	Ulnar/fibula ray defect - brachydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	2043836	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Ulnar/fibula ray defect - brachydactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	2043837	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ulnar/fibula ray defect - brachydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	3194038	\N	\N	EFO	5	EFO	genetic disorder	Ulnar/fibula ray defect - brachydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	3194039	\N	\N	EFO	5	EFO	bone disease	Ulnar/fibula ray defect - brachydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	3194040	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ulnar/fibula ray defect - brachydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	4400219	\N	\N	EFO	6	EFO	genetic disorder	Ulnar/fibula ray defect - brachydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	5183043	\N	\N	EFO	7	EFO	disease	Ulnar/fibula ray defect - brachydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	4400218	\N	\N	EFO	6	EFO	skeletal system disease	Ulnar/fibula ray defect - brachydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	5998407	\N	\N	EFO	8	EFO	disposition	Ulnar/fibula ray defect - brachydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	5416959	\N	\N	EFO	7	EFO	disease	Ulnar/fibula ray defect - brachydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	6551576	\N	\N	EFO	9	EFO	material property	Ulnar/fibula ray defect - brachydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52056	"Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." []	6889485	\N	\N	EFO	10	EFO	experimental factor	Ulnar/fibula ray defect - brachydactyly
Orphanet:52183	\N	\N	"" []	Orphanet:52183	"" []	77449	\N	\N	EFO	0	EFO	Premature chromosome condensation with microcephaly and intellectual disability	Premature chromosome condensation with microcephaly and intellectual disability
Orphanet:102283	Orphanet:52183	\N	"" []	Orphanet:52183	"" []	221259	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Premature chromosome condensation with microcephaly and intellectual disability
Orphanet:183763	Orphanet:52183	\N	"" []	Orphanet:52183	"" []	221260	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Premature chromosome condensation with microcephaly and intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:52183	"" []	577135	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Premature chromosome condensation with microcephaly and intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:52183	"" []	577136	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Premature chromosome condensation with microcephaly and intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:52183	"" []	1160414	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Premature chromosome condensation with microcephaly and intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:52183	"" []	1160415	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Premature chromosome condensation with microcephaly and intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52183	"" []	2043838	\N	\N	EFO	4	EFO	genetic disorder	Premature chromosome condensation with microcephaly and intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52183	"" []	2043839	\N	\N	EFO	4	EFO	genetic disorder	Premature chromosome condensation with microcephaly and intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52183	"" []	3194042	\N	\N	EFO	5	EFO	disease	Premature chromosome condensation with microcephaly and intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52183	"" []	4400220	\N	\N	EFO	6	EFO	disposition	Premature chromosome condensation with microcephaly and intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52183	"" []	5416960	\N	\N	EFO	7	EFO	material property	Premature chromosome condensation with microcephaly and intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52183	"" []	6152236	\N	\N	EFO	8	EFO	experimental factor	Premature chromosome condensation with microcephaly and intellectual disability
Orphanet:523	\N	\N	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	77450	\N	\N	EFO	0	EFO	Hereditary leiomyomatosis and renal cell cancer	Hereditary leiomyomatosis and renal cell cancer
Orphanet:183487	Orphanet:523	\N	"" []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	221261	\N	\N	EFO	1	EFO	Genetic skin tumor	Hereditary leiomyomatosis and renal cell cancer
Orphanet:319328	Orphanet:523	\N	"" []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	221262	\N	\N	EFO	1	EFO	Inherited renal cancer-predisposing syndrome	Hereditary leiomyomatosis and renal cell cancer
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	577137	\N	\N	EFO	2	EFO	skin neoplasm	Hereditary leiomyomatosis and renal cell cancer
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	577138	\N	\N	EFO	2	EFO	Rare genetic tumor	Hereditary leiomyomatosis and renal cell cancer
Orphanet:140162	Orphanet:319328	\N	"" []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	577139	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Hereditary leiomyomatosis and renal cell cancer
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	1160416	\N	\N	EFO	3	EFO	neoplasm	Hereditary leiomyomatosis and renal cell cancer
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	1160417	\N	\N	EFO	3	EFO	skin disease	Hereditary leiomyomatosis and renal cell cancer
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	1160418	\N	\N	EFO	3	EFO	genetic disorder	Hereditary leiomyomatosis and renal cell cancer
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	1160419	\N	\N	EFO	3	EFO	neoplasm	Hereditary leiomyomatosis and renal cell cancer
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	1160420	\N	\N	EFO	3	EFO	genetic disorder	Hereditary leiomyomatosis and renal cell cancer
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	2043840	\N	\N	EFO	4	EFO	disease	Hereditary leiomyomatosis and renal cell cancer
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	2043841	\N	\N	EFO	4	EFO	disease	Hereditary leiomyomatosis and renal cell cancer
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	2043842	\N	\N	EFO	4	EFO	disease	Hereditary leiomyomatosis and renal cell cancer
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	3194043	\N	\N	EFO	5	EFO	disposition	Hereditary leiomyomatosis and renal cell cancer
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	4400221	\N	\N	EFO	6	EFO	material property	Hereditary leiomyomatosis and renal cell cancer
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:523	"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." []	5416961	\N	\N	EFO	7	EFO	experimental factor	Hereditary leiomyomatosis and renal cell cancer
Orphanet:52368	\N	\N	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	77451	\N	\N	EFO	0	EFO	Mohr-Tranebjaerg syndrome	Mohr-Tranebjaerg syndrome
Orphanet:183500	Orphanet:52368	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	221263	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Mohr-Tranebjaerg syndrome
Orphanet:254834	Orphanet:52368	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	221264	\N	\N	EFO	1	EFO	Mitochondrial protein import disorder	Mohr-Tranebjaerg syndrome
Orphanet:90642	Orphanet:52368	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	221265	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Mohr-Tranebjaerg syndrome
Orphanet:98464	Orphanet:52368	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	221266	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Mohr-Tranebjaerg syndrome
Orphanet:98678	Orphanet:52368	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	221267	\N	\N	EFO	1	EFO	X-linked recessive optic atrophy	Mohr-Tranebjaerg syndrome
Orphanet:98695	Orphanet:52368	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	221268	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	Mohr-Tranebjaerg syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	577140	\N	\N	EFO	2	EFO	neurodegenerative disease	Mohr-Tranebjaerg syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	577141	\N	\N	EFO	2	EFO	brain disease	Mohr-Tranebjaerg syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	577142	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Mohr-Tranebjaerg syndrome
Orphanet:254827	Orphanet:254834	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	577143	\N	\N	EFO	2	EFO	Mitochondrial membrane transport disorder	Mohr-Tranebjaerg syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	577144	\N	\N	EFO	2	EFO	Rare genetic deafness	Mohr-Tranebjaerg syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	577145	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Mohr-Tranebjaerg syndrome
Orphanet:103	Orphanet:98678	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	577146	\N	\N	EFO	2	EFO	Genetic optic atrophy	Mohr-Tranebjaerg syndrome
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	577147	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Mohr-Tranebjaerg syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	1160421	\N	\N	EFO	3	EFO	nervous system disease	Mohr-Tranebjaerg syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	1160422	\N	\N	EFO	3	EFO	nervous system disease	Mohr-Tranebjaerg syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	3194048	\N	\N	EFO	5	EFO	genetic disorder	Mohr-Tranebjaerg syndrome
Orphanet:68380	Orphanet:254827	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	1160424	\N	\N	EFO	3	EFO	Mitochondrial disease	Mohr-Tranebjaerg syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	1160425	\N	\N	EFO	3	EFO	genetic disorder	Mohr-Tranebjaerg syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	1160426	\N	\N	EFO	3	EFO	auditory system disease	Mohr-Tranebjaerg syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	1160427	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Mohr-Tranebjaerg syndrome
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	1160428	\N	\N	EFO	3	EFO	Optic neuropathy	Mohr-Tranebjaerg syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	1160429	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mohr-Tranebjaerg syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	4400226	\N	\N	EFO	6	EFO	disease	Mohr-Tranebjaerg syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	5416963	\N	\N	EFO	7	EFO	disease	Mohr-Tranebjaerg syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	2043845	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Mohr-Tranebjaerg syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	2043846	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Mohr-Tranebjaerg syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	2043847	\N	\N	EFO	4	EFO	sensory system disease	Mohr-Tranebjaerg syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	2043848	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Mohr-Tranebjaerg syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	2043849	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mohr-Tranebjaerg syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	3194049	\N	\N	EFO	5	EFO	genetic disorder	Mohr-Tranebjaerg syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	3194050	\N	\N	EFO	5	EFO	eye disease	Mohr-Tranebjaerg syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	5817779	\N	\N	EFO	8	EFO	disposition	Mohr-Tranebjaerg syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	3194045	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mohr-Tranebjaerg syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	3194046	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Mohr-Tranebjaerg syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	3194047	\N	\N	EFO	5	EFO	nervous system disease	Mohr-Tranebjaerg syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	4134144	\N	\N	EFO	6	EFO	disease	Mohr-Tranebjaerg syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	6410261	\N	\N	EFO	9	EFO	material property	Mohr-Tranebjaerg syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	4400223	\N	\N	EFO	6	EFO	genetic disorder	Mohr-Tranebjaerg syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	4400224	\N	\N	EFO	6	EFO	genetic disorder	Mohr-Tranebjaerg syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	4400225	\N	\N	EFO	6	EFO	metabolic disease	Mohr-Tranebjaerg syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	6808094	\N	\N	EFO	10	EFO	experimental factor	Mohr-Tranebjaerg syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52368	"Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." []	5416964	\N	\N	EFO	7	EFO	disease	Mohr-Tranebjaerg syndrome
Orphanet:524	\N	\N	"Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term)." []	Orphanet:524	"Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term)." []	77452	\N	\N	EFO	0	EFO	Li-Fraumeni syndrome	Li-Fraumeni syndrome
Orphanet:140162	Orphanet:524	\N	"" []	Orphanet:524	"Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term)." []	221269	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Li-Fraumeni syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:524	"Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term)." []	577148	\N	\N	EFO	2	EFO	genetic disorder	Li-Fraumeni syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:524	"Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term)." []	1160430	\N	\N	EFO	3	EFO	disease	Li-Fraumeni syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:524	"Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term)." []	2043852	\N	\N	EFO	4	EFO	disposition	Li-Fraumeni syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:524	"Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term)." []	3194053	\N	\N	EFO	5	EFO	material property	Li-Fraumeni syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:524	"Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term)." []	4400227	\N	\N	EFO	6	EFO	experimental factor	Li-Fraumeni syndrome
Orphanet:52427	\N	\N	"" []	Orphanet:52427	"" []	77453	\N	\N	EFO	0	EFO	Retinitis punctata albescens	Retinitis punctata albescens
Orphanet:227786	Orphanet:52427	\N	"" []	Orphanet:52427	"" []	221270	\N	\N	EFO	1	EFO	Familial flecked retinopathy	Retinitis punctata albescens
Orphanet:98664	Orphanet:227786	\N	"" []	Orphanet:52427	"" []	577149	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Retinitis punctata albescens
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:52427	"" []	1160431	\N	\N	EFO	3	EFO	Retinal dystrophy	Retinitis punctata albescens
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:52427	"" []	2043853	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Retinitis punctata albescens
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:52427	"" []	3194054	\N	\N	EFO	5	EFO	Rare genetic eye disease	Retinitis punctata albescens
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52427	"" []	4400228	\N	\N	EFO	6	EFO	genetic disorder	Retinitis punctata albescens
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:52427	"" []	4400229	\N	\N	EFO	6	EFO	eye disease	Retinitis punctata albescens
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52427	"" []	5416965	\N	\N	EFO	7	EFO	disease	Retinitis punctata albescens
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52427	"" []	5416966	\N	\N	EFO	7	EFO	disease	Retinitis punctata albescens
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52427	"" []	6152237	\N	\N	EFO	8	EFO	disposition	Retinitis punctata albescens
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52427	"" []	6633983	\N	\N	EFO	9	EFO	material property	Retinitis punctata albescens
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52427	"" []	6926202	\N	\N	EFO	10	EFO	experimental factor	Retinitis punctata albescens
Orphanet:52429	\N	\N	"" []	Orphanet:52429	"" []	77454	\N	\N	EFO	0	EFO	Branchio-otic syndrome	Branchio-otic syndrome
Orphanet:330206	Orphanet:52429	\N	"" []	Orphanet:52429	"" []	221271	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Branchio-otic syndrome
Orphanet:90642	Orphanet:52429	\N	"" []	Orphanet:52429	"" []	221272	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Branchio-otic syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:52429	"" []	577150	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Branchio-otic syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:52429	"" []	577151	\N	\N	EFO	2	EFO	Rare genetic deafness	Branchio-otic syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:52429	"" []	1160432	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Branchio-otic syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52429	"" []	1160433	\N	\N	EFO	3	EFO	genetic disorder	Branchio-otic syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:52429	"" []	1160434	\N	\N	EFO	3	EFO	auditory system disease	Branchio-otic syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52429	"" []	2043854	\N	\N	EFO	4	EFO	genetic disorder	Branchio-otic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52429	"" []	3194055	\N	\N	EFO	5	EFO	disease	Branchio-otic syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:52429	"" []	2043856	\N	\N	EFO	4	EFO	sensory system disease	Branchio-otic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52429	"" []	5416968	\N	\N	EFO	7	EFO	disposition	Branchio-otic syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:52429	"" []	3194057	\N	\N	EFO	5	EFO	nervous system disease	Branchio-otic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52429	"" []	5877564	\N	\N	EFO	8	EFO	material property	Branchio-otic syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52429	"" []	4400231	\N	\N	EFO	6	EFO	disease	Branchio-otic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52429	"" []	6470800	\N	\N	EFO	9	EFO	experimental factor	Branchio-otic syndrome
Orphanet:52430	\N	\N	"" []	Orphanet:52430	"" []	77455	\N	\N	EFO	0	EFO	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Orphanet:206662	Orphanet:52430	\N	"" []	Orphanet:52430	"" []	221273	\N	\N	EFO	1	EFO	Inclusion myopathy	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Orphanet:93450	Orphanet:52430	\N	"" []	Orphanet:52430	"" []	221274	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Orphanet:206656	Orphanet:206662	\N	"" []	Orphanet:52430	"" []	577152	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:52430	"" []	577153	\N	\N	EFO	2	EFO	Primary bone dysplasia	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:52430	"" []	1160435	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:52430	"" []	1160436	\N	\N	EFO	3	EFO	Rare genetic bone disease	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:52430	"" []	1160437	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:52430	"" []	2043857	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52430	"" []	2043858	\N	\N	EFO	4	EFO	genetic disorder	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:52430	"" []	2043859	\N	\N	EFO	4	EFO	bone disease	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:52430	"" []	2043860	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:52430	"" []	3194058	\N	\N	EFO	5	EFO	muscular disease	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:52430	"" []	3194059	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52430	"" []	5416970	\N	\N	EFO	7	EFO	disease	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:52430	"" []	3194061	\N	\N	EFO	5	EFO	skeletal system disease	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52430	"" []	3194062	\N	\N	EFO	5	EFO	genetic disorder	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:52430	"" []	4400232	\N	\N	EFO	6	EFO	skeletal system disease	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52430	"" []	4400233	\N	\N	EFO	6	EFO	genetic disorder	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52430	"" []	5877565	\N	\N	EFO	8	EFO	disposition	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52430	"" []	5416969	\N	\N	EFO	7	EFO	disease	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52430	"" []	6470801	\N	\N	EFO	9	EFO	material property	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52430	"" []	6848720	\N	\N	EFO	10	EFO	experimental factor	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Orphanet:52503	\N	\N	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	77456	\N	\N	EFO	0	EFO	X-linked creatine transporter deficiency	X-linked creatine transporter deficiency
Orphanet:102283	Orphanet:52503	\N	"" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	221275	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked creatine transporter deficiency
Orphanet:182076	Orphanet:52503	\N	"" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	221276	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	X-linked creatine transporter deficiency
Orphanet:68385	Orphanet:52503	\N	"" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	221277	\N	\N	EFO	1	EFO	Neurometabolic disease	X-linked creatine transporter deficiency
Orphanet:79172	Orphanet:52503	\N	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	221278	\N	\N	EFO	1	EFO	Disorder of creatine biosynthesis	X-linked creatine transporter deficiency
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	577154	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked creatine transporter deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	577155	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked creatine transporter deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	577156	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	X-linked creatine transporter deficiency
Orphanet:79200	Orphanet:79172	\N	"" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	577157	\N	\N	EFO	2	EFO	Disorder of energy metabolism	X-linked creatine transporter deficiency
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	1160438	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked creatine transporter deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	1160439	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked creatine transporter deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	4400237	\N	\N	EFO	6	EFO	genetic disorder	X-linked creatine transporter deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	1160441	\N	\N	EFO	3	EFO	Inborn errors of metabolism	X-linked creatine transporter deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	2043861	\N	\N	EFO	4	EFO	genetic disorder	X-linked creatine transporter deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	2043862	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked creatine transporter deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	5028455	\N	\N	EFO	7	EFO	disease	X-linked creatine transporter deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	2043864	\N	\N	EFO	4	EFO	genetic disorder	X-linked creatine transporter deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	2043865	\N	\N	EFO	4	EFO	metabolic disease	X-linked creatine transporter deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	3194064	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked creatine transporter deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	5817780	\N	\N	EFO	8	EFO	disposition	X-linked creatine transporter deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	3194066	\N	\N	EFO	5	EFO	disease	X-linked creatine transporter deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	6410262	\N	\N	EFO	9	EFO	material property	X-linked creatine transporter deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52503	"X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." []	6808095	\N	\N	EFO	10	EFO	experimental factor	X-linked creatine transporter deficiency
Orphanet:52530	\N	\N	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	Orphanet:52530	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	77457	\N	\N	EFO	0	EFO	Pseudo-von Willebrand disease	Pseudo-von Willebrand disease
Orphanet:275736	Orphanet:52530	\N	"" []	Orphanet:52530	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	221279	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a platelet receptor defect	Pseudo-von Willebrand disease
Orphanet:71202	Orphanet:275736	\N	"" []	Orphanet:52530	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	577158	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Pseudo-von Willebrand disease
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:52530	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	1160442	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Pseudo-von Willebrand disease
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:52530	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	2043866	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Pseudo-von Willebrand disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52530	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	3194067	\N	\N	EFO	5	EFO	genetic disorder	Pseudo-von Willebrand disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:52530	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	3194068	\N	\N	EFO	5	EFO	hematological system disease	Pseudo-von Willebrand disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52530	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	4400239	\N	\N	EFO	6	EFO	disease	Pseudo-von Willebrand disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52530	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	4400240	\N	\N	EFO	6	EFO	disease	Pseudo-von Willebrand disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52530	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	5416973	\N	\N	EFO	7	EFO	disposition	Pseudo-von Willebrand disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52530	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	6152239	\N	\N	EFO	8	EFO	material property	Pseudo-von Willebrand disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52530	"Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." []	6633984	\N	\N	EFO	9	EFO	experimental factor	Pseudo-von Willebrand disease
Orphanet:526	\N	\N	"Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." []	Orphanet:526	"Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." []	77458	\N	\N	EFO	0	EFO	Liddle syndrome	Liddle syndrome
Orphanet:156629	Orphanet:526	\N	"" []	Orphanet:526	"Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." []	221280	\N	\N	EFO	1	EFO	Genetic hypertension	Liddle syndrome
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:526	"Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." []	577159	\N	\N	EFO	2	EFO	Rare genetic renal disease	Liddle syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:526	"Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." []	1160443	\N	\N	EFO	3	EFO	genetic disorder	Liddle syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:526	"Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." []	2043867	\N	\N	EFO	4	EFO	disease	Liddle syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:526	"Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." []	3194069	\N	\N	EFO	5	EFO	disposition	Liddle syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:526	"Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." []	4400241	\N	\N	EFO	6	EFO	material property	Liddle syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:526	"Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." []	5416974	\N	\N	EFO	7	EFO	experimental factor	Liddle syndrome
Orphanet:528	\N	\N	"" []	Orphanet:528	"" []	77459	\N	\N	EFO	0	EFO	Berardinelli-Seip congenital lipodystrophy	Berardinelli-Seip congenital lipodystrophy
Orphanet:181368	Orphanet:528	\N	"" []	Orphanet:528	"" []	221281	\N	\N	EFO	1	EFO	Rare insulin-resistance syndrome	Berardinelli-Seip congenital lipodystrophy
Orphanet:363245	Orphanet:528	\N	"" []	Orphanet:528	"" []	221282	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Berardinelli-Seip congenital lipodystrophy
Orphanet:98305	Orphanet:528	\N	"" []	Orphanet:528	"" []	221283	\N	\N	EFO	1	EFO	Genetic lipodystrophy	Berardinelli-Seip congenital lipodystrophy
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:528	"" []	577160	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Berardinelli-Seip congenital lipodystrophy
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:528	"" []	577161	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Berardinelli-Seip congenital lipodystrophy
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:528	"" []	577162	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Berardinelli-Seip congenital lipodystrophy
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:528	"" []	577163	\N	\N	EFO	2	EFO	Primary lipodystrophy	Berardinelli-Seip congenital lipodystrophy
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:528	"" []	1160444	\N	\N	EFO	3	EFO	diabetes mellitus	Berardinelli-Seip congenital lipodystrophy
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:528	"" []	1160445	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Berardinelli-Seip congenital lipodystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:528	"" []	1160446	\N	\N	EFO	3	EFO	genetic disorder	Berardinelli-Seip congenital lipodystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:528	"" []	2043869	\N	\N	EFO	4	EFO	genetic disorder	Berardinelli-Seip congenital lipodystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:528	"" []	2043870	\N	\N	EFO	4	EFO	endocrine system disease	Berardinelli-Seip congenital lipodystrophy
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:528	"" []	1160449	\N	\N	EFO	3	EFO	Genetic subcutaneous tissue disorder	Berardinelli-Seip congenital lipodystrophy
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:528	"" []	2043868	\N	\N	EFO	4	EFO	metabolic disease	Berardinelli-Seip congenital lipodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:528	"" []	4400243	\N	\N	EFO	6	EFO	disease	Berardinelli-Seip congenital lipodystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:528	"" []	3000381	\N	\N	EFO	5	EFO	disease	Berardinelli-Seip congenital lipodystrophy
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:528	"" []	2043873	\N	\N	EFO	4	EFO	Rare genetic skin disease	Berardinelli-Seip congenital lipodystrophy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:528	"" []	3194070	\N	\N	EFO	5	EFO	disease	Berardinelli-Seip congenital lipodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:528	"" []	5060142	\N	\N	EFO	7	EFO	disposition	Berardinelli-Seip congenital lipodystrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:528	"" []	3194072	\N	\N	EFO	5	EFO	genetic disorder	Berardinelli-Seip congenital lipodystrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:528	"" []	3194073	\N	\N	EFO	5	EFO	skin disease	Berardinelli-Seip congenital lipodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:528	"" []	5877566	\N	\N	EFO	8	EFO	material property	Berardinelli-Seip congenital lipodystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:528	"" []	4400244	\N	\N	EFO	6	EFO	disease	Berardinelli-Seip congenital lipodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:528	"" []	6470802	\N	\N	EFO	9	EFO	experimental factor	Berardinelli-Seip congenital lipodystrophy
Orphanet:529	\N	\N	"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." []	Orphanet:529	"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." []	77460	\N	\N	EFO	0	EFO	Roch-Leri mesosomatous lipomatosis	Roch-Leri mesosomatous lipomatosis
Orphanet:183484	Orphanet:529	\N	"" []	Orphanet:529	"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." []	221284	\N	\N	EFO	1	EFO	Genetic subcutaneous tissue disorder	Roch-Leri mesosomatous lipomatosis
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:529	"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." []	577164	\N	\N	EFO	2	EFO	Rare genetic skin disease	Roch-Leri mesosomatous lipomatosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:529	"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." []	1160450	\N	\N	EFO	3	EFO	genetic disorder	Roch-Leri mesosomatous lipomatosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:529	"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." []	1160451	\N	\N	EFO	3	EFO	skin disease	Roch-Leri mesosomatous lipomatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:529	"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." []	2043874	\N	\N	EFO	4	EFO	disease	Roch-Leri mesosomatous lipomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:529	"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." []	2043875	\N	\N	EFO	4	EFO	disease	Roch-Leri mesosomatous lipomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:529	"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." []	3194074	\N	\N	EFO	5	EFO	disposition	Roch-Leri mesosomatous lipomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:529	"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." []	4400245	\N	\N	EFO	6	EFO	material property	Roch-Leri mesosomatous lipomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:529	"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." []	5416976	\N	\N	EFO	7	EFO	experimental factor	Roch-Leri mesosomatous lipomatosis
Orphanet:52901	\N	\N	"" []	Orphanet:52901	"" []	77461	\N	\N	EFO	0	EFO	Isolated follicle stimulating hormone deficiency	Isolated follicle stimulating hormone deficiency
Orphanet:399983	Orphanet:52901	\N	"" []	Orphanet:52901	"" []	221285	\N	\N	EFO	1	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Isolated follicle stimulating hormone deficiency
Orphanet:400011	Orphanet:52901	\N	"" []	Orphanet:52901	"" []	221286	\N	\N	EFO	1	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Isolated follicle stimulating hormone deficiency
Orphanet:95488	Orphanet:52901	\N	"" []	Orphanet:52901	"" []	221287	\N	\N	EFO	1	EFO	Non-acquired pituitary hormone deficiency	Isolated follicle stimulating hormone deficiency
Orphanet:95710	Orphanet:52901	\N	"" []	Orphanet:52901	"" []	221288	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	Isolated follicle stimulating hormone deficiency
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:52901	"" []	577165	\N	\N	EFO	2	EFO	Rare genetic male infertility	Isolated follicle stimulating hormone deficiency
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:52901	"" []	577166	\N	\N	EFO	2	EFO	Rare genetic female infertility	Isolated follicle stimulating hormone deficiency
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:52901	"" []	577167	\N	\N	EFO	2	EFO	Pituitary deficiency	Isolated follicle stimulating hormone deficiency
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:52901	"" []	577168	\N	\N	EFO	2	EFO	ovarian disease	Isolated follicle stimulating hormone deficiency
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:52901	"" []	577169	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Isolated follicle stimulating hormone deficiency
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:52901	"" []	577170	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Isolated follicle stimulating hormone deficiency
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:52901	"" []	1160452	\N	\N	EFO	3	EFO	Genetic infertility	Isolated follicle stimulating hormone deficiency
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:52901	"" []	1160453	\N	\N	EFO	3	EFO	Genetic infertility	Isolated follicle stimulating hormone deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:52901	"" []	1160454	\N	\N	EFO	3	EFO	Rare genetic hypothalamic or pituitary disease	Isolated follicle stimulating hormone deficiency
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:52901	"" []	1160455	\N	\N	EFO	3	EFO	reproductive system disease	Isolated follicle stimulating hormone deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52901	"" []	3194077	\N	\N	EFO	5	EFO	genetic disorder	Isolated follicle stimulating hormone deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:52901	"" []	3194078	\N	\N	EFO	5	EFO	endocrine system disease	Isolated follicle stimulating hormone deficiency
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:52901	"" []	1160458	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Isolated follicle stimulating hormone deficiency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52901	"" []	2043876	\N	\N	EFO	4	EFO	genetic disorder	Isolated follicle stimulating hormone deficiency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:52901	"" []	2043877	\N	\N	EFO	4	EFO	reproductive system disease	Isolated follicle stimulating hormone deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:52901	"" []	2043878	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Isolated follicle stimulating hormone deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52901	"" []	3194076	\N	\N	EFO	5	EFO	disease	Isolated follicle stimulating hormone deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52901	"" []	4066961	\N	\N	EFO	6	EFO	disease	Isolated follicle stimulating hormone deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:52901	"" []	4066962	\N	\N	EFO	6	EFO	disease	Isolated follicle stimulating hormone deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:52901	"" []	2043882	\N	\N	EFO	4	EFO	genetic disorder	Isolated follicle stimulating hormone deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:52901	"" []	2043883	\N	\N	EFO	4	EFO	reproductive system disease	Isolated follicle stimulating hormone deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:52901	"" []	5060143	\N	\N	EFO	7	EFO	disposition	Isolated follicle stimulating hormone deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:52901	"" []	5877567	\N	\N	EFO	8	EFO	material property	Isolated follicle stimulating hormone deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:52901	"" []	6470803	\N	\N	EFO	9	EFO	experimental factor	Isolated follicle stimulating hormone deficiency
Orphanet:53	\N	\N	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	77462	\N	\N	EFO	0	EFO	Albers-Schnberg osteopetrosis	Albers-Schnberg osteopetrosis
Orphanet:2781	Orphanet:53	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	221289	\N	\N	EFO	1	EFO	Osteopetrosis	Albers-Schnberg osteopetrosis
Orphanet:98666	Orphanet:53	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	221290	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Albers-Schnberg osteopetrosis
Orphanet:98677	Orphanet:53	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	221291	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	Albers-Schnberg osteopetrosis
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	577171	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Albers-Schnberg osteopetrosis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	577172	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Albers-Schnberg osteopetrosis
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	577173	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	Albers-Schnberg osteopetrosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	1160459	\N	\N	EFO	3	EFO	Primary bone dysplasia	Albers-Schnberg osteopetrosis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	1160460	\N	\N	EFO	3	EFO	Retinal dystrophy	Albers-Schnberg osteopetrosis
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	1160461	\N	\N	EFO	3	EFO	Genetic optic atrophy	Albers-Schnberg osteopetrosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	2043884	\N	\N	EFO	4	EFO	Rare genetic bone disease	Albers-Schnberg osteopetrosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	2043885	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Albers-Schnberg osteopetrosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	2043886	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Albers-Schnberg osteopetrosis
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	2043887	\N	\N	EFO	4	EFO	Optic neuropathy	Albers-Schnberg osteopetrosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	3194080	\N	\N	EFO	5	EFO	genetic disorder	Albers-Schnberg osteopetrosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	3194081	\N	\N	EFO	5	EFO	bone disease	Albers-Schnberg osteopetrosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	3194082	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Albers-Schnberg osteopetrosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	3194083	\N	\N	EFO	5	EFO	Rare genetic eye disease	Albers-Schnberg osteopetrosis
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	3194084	\N	\N	EFO	5	EFO	Rare genetic eye disease	Albers-Schnberg osteopetrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	5416980	\N	\N	EFO	7	EFO	disease	Albers-Schnberg osteopetrosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	4400248	\N	\N	EFO	6	EFO	skeletal system disease	Albers-Schnberg osteopetrosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	4400249	\N	\N	EFO	6	EFO	genetic disorder	Albers-Schnberg osteopetrosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	4400250	\N	\N	EFO	6	EFO	genetic disorder	Albers-Schnberg osteopetrosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	4400251	\N	\N	EFO	6	EFO	eye disease	Albers-Schnberg osteopetrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	5998414	\N	\N	EFO	8	EFO	disposition	Albers-Schnberg osteopetrosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	5416979	\N	\N	EFO	7	EFO	disease	Albers-Schnberg osteopetrosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	5416981	\N	\N	EFO	7	EFO	disease	Albers-Schnberg osteopetrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	6551578	\N	\N	EFO	9	EFO	material property	Albers-Schnberg osteopetrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53	"Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." []	6889486	\N	\N	EFO	10	EFO	experimental factor	Albers-Schnberg osteopetrosis
Orphanet:530	\N	\N	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	77463	\N	\N	EFO	0	EFO	Lipoid proteinosis	Lipoid proteinosis
Orphanet:139027	Orphanet:530	\N	"" []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	221292	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Lipoid proteinosis
Orphanet:183472	Orphanet:530	\N	"" []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	221293	\N	\N	EFO	1	EFO	Genetic dermis disorder	Lipoid proteinosis
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	577174	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Lipoid proteinosis
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	577175	\N	\N	EFO	2	EFO	Rare genetic skin disease	Lipoid proteinosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	1160462	\N	\N	EFO	3	EFO	genetic disorder	Lipoid proteinosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	1160463	\N	\N	EFO	3	EFO	genetic disorder	Lipoid proteinosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	1160464	\N	\N	EFO	3	EFO	skin disease	Lipoid proteinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	2043888	\N	\N	EFO	4	EFO	disease	Lipoid proteinosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	2043889	\N	\N	EFO	4	EFO	disease	Lipoid proteinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	3194085	\N	\N	EFO	5	EFO	disposition	Lipoid proteinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	4400252	\N	\N	EFO	6	EFO	material property	Lipoid proteinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:530	"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood, and at times neurological complications." []	5416982	\N	\N	EFO	7	EFO	experimental factor	Lipoid proteinosis
Orphanet:531	\N	\N	"" []	Orphanet:531	"" []	77464	\N	\N	EFO	0	EFO	Miller-Dieker syndrome	Miller-Dieker syndrome
Orphanet:102009	Orphanet:531	\N	"" []	Orphanet:531	"" []	221294	\N	\N	EFO	1	EFO	Classic lissencephaly	Miller-Dieker syndrome
Orphanet:261965	Orphanet:531	\N	"" []	Orphanet:531	"" []	221295	\N	\N	EFO	1	EFO	Partial monosomy of the short arm of chromosome 17	Miller-Dieker syndrome
Orphanet:48471	Orphanet:102009	\N	"" []	Orphanet:531	"" []	577176	\N	\N	EFO	2	EFO	Lissencephaly	Miller-Dieker syndrome
Orphanet:261831	Orphanet:261965	\N	"" []	Orphanet:531	"" []	577177	\N	\N	EFO	2	EFO	Partial deletion of chromosome 17	Miller-Dieker syndrome
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:531	"" []	1160465	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Miller-Dieker syndrome
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:531	"" []	1160466	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Miller-Dieker syndrome
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:531	"" []	1160467	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Miller-Dieker syndrome
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:531	"" []	1160468	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Miller-Dieker syndrome
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:531	"" []	2043890	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Miller-Dieker syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:531	"" []	2043891	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Miller-Dieker syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:531	"" []	2043892	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Miller-Dieker syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:531	"" []	2043893	\N	\N	EFO	4	EFO	Autosomal monosomy	Miller-Dieker syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:531	"" []	3194086	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Miller-Dieker syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:531	"" []	3194087	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Miller-Dieker syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:531	"" []	3194088	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Miller-Dieker syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:531	"" []	3194089	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Miller-Dieker syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:531	"" []	3194090	\N	\N	EFO	5	EFO	Autosomal anomaly	Miller-Dieker syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:531	"" []	4400253	\N	\N	EFO	6	EFO	genetic disorder	Miller-Dieker syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:531	"" []	4400254	\N	\N	EFO	6	EFO	genetic disorder	Miller-Dieker syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:531	"" []	4400255	\N	\N	EFO	6	EFO	Chromosomal anomaly	Miller-Dieker syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:531	"" []	6152242	\N	\N	EFO	8	EFO	disease	Miller-Dieker syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:531	"" []	5416984	\N	\N	EFO	7	EFO	genetic disorder	Miller-Dieker syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:531	"" []	6551579	\N	\N	EFO	9	EFO	disposition	Miller-Dieker syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:531	"" []	6889487	\N	\N	EFO	10	EFO	material property	Miller-Dieker syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:531	"" []	7086054	\N	\N	EFO	11	EFO	experimental factor	Miller-Dieker syndrome
Orphanet:53271	\N	\N	"" []	Orphanet:53271	"" []	77465	\N	\N	EFO	0	EFO	Muenke syndrome	Muenke syndrome
Orphanet:139393	Orphanet:53271	\N	"" []	Orphanet:53271	"" []	221296	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Muenke syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:53271	"" []	577178	\N	\N	EFO	2	EFO	Craniosynostosis	Muenke syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:53271	"" []	1160469	\N	\N	EFO	3	EFO	Genetic cranial malformation	Muenke syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:53271	"" []	1160470	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Muenke syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:53271	"" []	2043894	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Muenke syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:53271	"" []	2043895	\N	\N	EFO	4	EFO	Rare genetic bone disease	Muenke syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:53271	"" []	2043896	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Muenke syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53271	"" []	4400258	\N	\N	EFO	6	EFO	genetic disorder	Muenke syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53271	"" []	3194092	\N	\N	EFO	5	EFO	genetic disorder	Muenke syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:53271	"" []	3194093	\N	\N	EFO	5	EFO	bone disease	Muenke syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:53271	"" []	3194094	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Muenke syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53271	"" []	5183050	\N	\N	EFO	7	EFO	disease	Muenke syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:53271	"" []	4400257	\N	\N	EFO	6	EFO	skeletal system disease	Muenke syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53271	"" []	5998415	\N	\N	EFO	8	EFO	disposition	Muenke syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53271	"" []	5416986	\N	\N	EFO	7	EFO	disease	Muenke syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53271	"" []	6551580	\N	\N	EFO	9	EFO	material property	Muenke syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53271	"" []	6889488	\N	\N	EFO	10	EFO	experimental factor	Muenke syndrome
Orphanet:53296	\N	\N	"" []	Orphanet:53296	"" []	77466	\N	\N	EFO	0	EFO	Familial cutaneous collagenoma	Familial cutaneous collagenoma
Orphanet:228215	Orphanet:53296	\N	"" []	Orphanet:53296	"" []	221297	\N	\N	EFO	1	EFO	Genetic dermis elastic tissue disorder	Familial cutaneous collagenoma
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:53296	"" []	577179	\N	\N	EFO	2	EFO	Genetic dermis disorder	Familial cutaneous collagenoma
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:53296	"" []	1160471	\N	\N	EFO	3	EFO	Rare genetic skin disease	Familial cutaneous collagenoma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53296	"" []	2043897	\N	\N	EFO	4	EFO	genetic disorder	Familial cutaneous collagenoma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:53296	"" []	2043898	\N	\N	EFO	4	EFO	skin disease	Familial cutaneous collagenoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53296	"" []	3194095	\N	\N	EFO	5	EFO	disease	Familial cutaneous collagenoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53296	"" []	3194096	\N	\N	EFO	5	EFO	disease	Familial cutaneous collagenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53296	"" []	4400259	\N	\N	EFO	6	EFO	disposition	Familial cutaneous collagenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53296	"" []	5416987	\N	\N	EFO	7	EFO	material property	Familial cutaneous collagenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53296	"" []	6152244	\N	\N	EFO	8	EFO	experimental factor	Familial cutaneous collagenoma
Orphanet:53347	\N	\N	"" []	Orphanet:53347	"" []	77467	\N	\N	EFO	0	EFO	Brody myopathy	Brody myopathy
Orphanet:206656	Orphanet:53347	\N	"" []	Orphanet:53347	"" []	221298	\N	\N	EFO	1	EFO	Non-dystrophic myopathy	Brody myopathy
Orphanet:209199	Orphanet:53347	\N	"" []	Orphanet:53347	"" []	221299	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein SERCA1	Brody myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:53347	"" []	577180	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Brody myopathy
Orphanet:207049	Orphanet:209199	\N	"" []	Orphanet:53347	"" []	577181	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Brody myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:53347	"" []	1160472	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Brody myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:53347	"" []	1160473	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Brody myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:53347	"" []	2043899	\N	\N	EFO	4	EFO	muscular disease	Brody myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:53347	"" []	2043900	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Brody myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:53347	"" []	3194097	\N	\N	EFO	5	EFO	skeletal system disease	Brody myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53347	"" []	3194098	\N	\N	EFO	5	EFO	genetic disorder	Brody myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53347	"" []	4400260	\N	\N	EFO	6	EFO	disease	Brody myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53347	"" []	4400261	\N	\N	EFO	6	EFO	disease	Brody myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53347	"" []	5416988	\N	\N	EFO	7	EFO	disposition	Brody myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53347	"" []	6152245	\N	\N	EFO	8	EFO	material property	Brody myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53347	"" []	6633988	\N	\N	EFO	9	EFO	experimental factor	Brody myopathy
Orphanet:53351	\N	\N	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	77468	\N	\N	EFO	0	EFO	X-linked dystonia-parkinsonism	X-linked dystonia-parkinsonism
Orphanet:307055	Orphanet:53351	\N	"" []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	221300	\N	\N	EFO	1	EFO	Rare parkinsonian syndrome due to genetic neurodegenerative disease	X-linked dystonia-parkinsonism
Orphanet:391711	Orphanet:53351	\N	"" []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	221301	\N	\N	EFO	1	EFO	Persistent combined dystonia	X-linked dystonia-parkinsonism
EFO:0005772	Orphanet:307055	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	577182	\N	\N	EFO	2	EFO	neurodegenerative disease	X-linked dystonia-parkinsonism
Orphanet:307052	Orphanet:307055	\N	"" []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	577183	\N	\N	EFO	2	EFO	Rare genetic parkinsonian disorder	X-linked dystonia-parkinsonism
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	577184	\N	\N	EFO	2	EFO	Combined dystonia	X-linked dystonia-parkinsonism
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	1160474	\N	\N	EFO	3	EFO	nervous system disease	X-linked dystonia-parkinsonism
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	1160475	\N	\N	EFO	3	EFO	Rare genetic movement disorder	X-linked dystonia-parkinsonism
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	1160476	\N	\N	EFO	3	EFO	Rare genetic dystonia	X-linked dystonia-parkinsonism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	5183051	\N	\N	EFO	7	EFO	disease	X-linked dystonia-parkinsonism
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	3194102	\N	\N	EFO	5	EFO	movement disorder	X-linked dystonia-parkinsonism
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	3194103	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked dystonia-parkinsonism
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	2043904	\N	\N	EFO	4	EFO	Rare genetic movement disorder	X-linked dystonia-parkinsonism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	5817781	\N	\N	EFO	8	EFO	disposition	X-linked dystonia-parkinsonism
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	4134149	\N	\N	EFO	6	EFO	nervous system disease	X-linked dystonia-parkinsonism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	4134150	\N	\N	EFO	6	EFO	genetic disorder	X-linked dystonia-parkinsonism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	6410263	\N	\N	EFO	9	EFO	material property	X-linked dystonia-parkinsonism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	5183052	\N	\N	EFO	7	EFO	disease	X-linked dystonia-parkinsonism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53351	"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." []	6808096	\N	\N	EFO	10	EFO	experimental factor	X-linked dystonia-parkinsonism
Orphanet:53372	\N	\N	"" []	Orphanet:53372	"" []	77469	\N	\N	EFO	0	EFO	Hereditary geniospasm	Hereditary geniospasm
Orphanet:307061	Orphanet:53372	\N	"" []	Orphanet:53372	"" []	221302	\N	\N	EFO	1	EFO	Rare genetic tremor disorder	Hereditary geniospasm
Orphanet:183521	Orphanet:307061	\N	"" []	Orphanet:53372	"" []	577185	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Hereditary geniospasm
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:53372	"" []	1160477	\N	\N	EFO	3	EFO	movement disorder	Hereditary geniospasm
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:53372	"" []	1160478	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary geniospasm
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:53372	"" []	2043905	\N	\N	EFO	4	EFO	nervous system disease	Hereditary geniospasm
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53372	"" []	2043906	\N	\N	EFO	4	EFO	genetic disorder	Hereditary geniospasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53372	"" []	3194104	\N	\N	EFO	5	EFO	disease	Hereditary geniospasm
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53372	"" []	3194105	\N	\N	EFO	5	EFO	disease	Hereditary geniospasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53372	"" []	4400265	\N	\N	EFO	6	EFO	disposition	Hereditary geniospasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53372	"" []	5416990	\N	\N	EFO	7	EFO	material property	Hereditary geniospasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53372	"" []	6152246	\N	\N	EFO	8	EFO	experimental factor	Hereditary geniospasm
Orphanet:534	\N	\N	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	77470	\N	\N	EFO	0	EFO	Oculocerebrorenal syndrome	Oculocerebrorenal syndrome
Orphanet:108987	Orphanet:534	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	221303	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Oculocerebrorenal syndrome
Orphanet:182076	Orphanet:534	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	221304	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Oculocerebrorenal syndrome
Orphanet:183592	Orphanet:534	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	221305	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Oculocerebrorenal syndrome
Orphanet:79166	Orphanet:534	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	221306	\N	\N	EFO	1	EFO	Disorder of amino acid absorption and transport	Oculocerebrorenal syndrome
Orphanet:98638	Orphanet:534	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	221307	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Oculocerebrorenal syndrome
Orphanet:98646	Orphanet:534	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	221308	\N	\N	EFO	1	EFO	Renal disease with cataract	Oculocerebrorenal syndrome
Orphanet:98712	Orphanet:534	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	221309	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Oculocerebrorenal syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	577186	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Oculocerebrorenal syndrome
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	577187	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Oculocerebrorenal syndrome
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	577188	\N	\N	EFO	2	EFO	Rare genetic renal disease	Oculocerebrorenal syndrome
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	577189	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Oculocerebrorenal syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	577190	\N	\N	EFO	2	EFO	Rare genetic eye disease	Oculocerebrorenal syndrome
Orphanet:98643	Orphanet:98646	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	577191	\N	\N	EFO	2	EFO	Systemic disease with cataract	Oculocerebrorenal syndrome
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	577192	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Oculocerebrorenal syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	1160479	\N	\N	EFO	3	EFO	Rare genetic eye disease	Oculocerebrorenal syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	1160480	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculocerebrorenal syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	1160481	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Oculocerebrorenal syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	1160482	\N	\N	EFO	3	EFO	genetic disorder	Oculocerebrorenal syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	1160483	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Oculocerebrorenal syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	5416993	\N	\N	EFO	7	EFO	genetic disorder	Oculocerebrorenal syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	5416994	\N	\N	EFO	7	EFO	eye disease	Oculocerebrorenal syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	1160486	\N	\N	EFO	3	EFO	Syndromic cataract	Oculocerebrorenal syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	1160487	\N	\N	EFO	3	EFO	Rare genetic eye disease	Oculocerebrorenal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	2043909	\N	\N	EFO	4	EFO	genetic disorder	Oculocerebrorenal syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	2043910	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Oculocerebrorenal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	5801871	\N	\N	EFO	8	EFO	disease	Oculocerebrorenal syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	2043912	\N	\N	EFO	4	EFO	genetic disorder	Oculocerebrorenal syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	2043913	\N	\N	EFO	4	EFO	metabolic disease	Oculocerebrorenal syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	5801872	\N	\N	EFO	8	EFO	disease	Oculocerebrorenal syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	2043915	\N	\N	EFO	4	EFO	Rare cataract	Oculocerebrorenal syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	3194106	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Oculocerebrorenal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	6378956	\N	\N	EFO	9	EFO	disposition	Oculocerebrorenal syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	3194108	\N	\N	EFO	5	EFO	disease	Oculocerebrorenal syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	3194109	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Oculocerebrorenal syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	4400266	\N	\N	EFO	6	EFO	genetic disorder	Oculocerebrorenal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	6778784	\N	\N	EFO	10	EFO	material property	Oculocerebrorenal syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	4400268	\N	\N	EFO	6	EFO	Rare genetic eye disease	Oculocerebrorenal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:534	"Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." []	7029979	\N	\N	EFO	11	EFO	experimental factor	Oculocerebrorenal syndrome
Orphanet:53540	\N	\N	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	77471	\N	\N	EFO	0	EFO	Goldmann-Favre syndrome	Goldmann-Favre syndrome
Orphanet:98666	Orphanet:53540	\N	"" []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	221310	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Goldmann-Favre syndrome
Orphanet:98670	Orphanet:53540	\N	"" []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	221311	\N	\N	EFO	1	EFO	Vitreoretinal degeneration	Goldmann-Favre syndrome
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	577193	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Goldmann-Favre syndrome
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	577194	\N	\N	EFO	2	EFO	Vitreoretinopathy	Goldmann-Favre syndrome
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	1160488	\N	\N	EFO	3	EFO	Retinal dystrophy	Goldmann-Favre syndrome
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	1160489	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Goldmann-Favre syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	2043916	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Goldmann-Favre syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	3194110	\N	\N	EFO	5	EFO	Rare genetic eye disease	Goldmann-Favre syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	4134152	\N	\N	EFO	6	EFO	genetic disorder	Goldmann-Favre syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	4134153	\N	\N	EFO	6	EFO	eye disease	Goldmann-Favre syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	5183054	\N	\N	EFO	7	EFO	disease	Goldmann-Favre syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	5183055	\N	\N	EFO	7	EFO	disease	Goldmann-Favre syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	5998417	\N	\N	EFO	8	EFO	disposition	Goldmann-Favre syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	6551581	\N	\N	EFO	9	EFO	material property	Goldmann-Favre syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53540	"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." []	6889489	\N	\N	EFO	10	EFO	experimental factor	Goldmann-Favre syndrome
Orphanet:53583	\N	\N	"" []	Orphanet:53583	"" []	77472	\N	\N	EFO	0	EFO	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Orphanet:200037	Orphanet:53583	\N	"" []	Orphanet:53583	"" []	221312	\N	\N	EFO	1	EFO	Paroxysmal dystonia	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Orphanet:306768	Orphanet:200037	\N	"" []	Orphanet:53583	"" []	577195	\N	\N	EFO	2	EFO	Rare paroxysmal movement disorder	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Orphanet:98203	Orphanet:200037	\N	"" []	Orphanet:53583	"" []	577196	\N	\N	EFO	2	EFO	Combined dystonia	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Orphanet:183521	Orphanet:306768	\N	"" []	Orphanet:53583	"" []	1160490	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:53583	"" []	1160491	\N	\N	EFO	3	EFO	Rare genetic dystonia	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:53583	"" []	3194115	\N	\N	EFO	5	EFO	movement disorder	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:53583	"" []	3194116	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:53583	"" []	2043920	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:53583	"" []	4134154	\N	\N	EFO	6	EFO	nervous system disease	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53583	"" []	4134155	\N	\N	EFO	6	EFO	genetic disorder	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53583	"" []	5183056	\N	\N	EFO	7	EFO	disease	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53583	"" []	5183057	\N	\N	EFO	7	EFO	disease	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53583	"" []	5998418	\N	\N	EFO	8	EFO	disposition	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53583	"" []	6551582	\N	\N	EFO	9	EFO	material property	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53583	"" []	6889490	\N	\N	EFO	10	EFO	experimental factor	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Orphanet:53689	\N	\N	"" []	Orphanet:53689	"" []	77473	\N	\N	EFO	0	EFO	Congenital chloride diarrhea	Congenital chloride diarrhea
Orphanet:104003	Orphanet:53689	\N	"" []	Orphanet:53689	"" []	221313	\N	\N	EFO	1	EFO	Congenital intestinal transport defect	Congenital chloride diarrhea
Orphanet:165655	Orphanet:104003	\N	"" []	Orphanet:53689	"" []	577197	\N	\N	EFO	2	EFO	Genetic intestinal disease	Congenital chloride diarrhea
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:53689	"" []	1160492	\N	\N	EFO	3	EFO	digestive system disease	Congenital chloride diarrhea
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:53689	"" []	1160493	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Congenital chloride diarrhea
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53689	"" []	2043921	\N	\N	EFO	4	EFO	disease	Congenital chloride diarrhea
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53689	"" []	2043922	\N	\N	EFO	4	EFO	genetic disorder	Congenital chloride diarrhea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53689	"" []	4400274	\N	\N	EFO	6	EFO	disposition	Congenital chloride diarrhea
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53689	"" []	3194118	\N	\N	EFO	5	EFO	disease	Congenital chloride diarrhea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53689	"" []	5183058	\N	\N	EFO	7	EFO	material property	Congenital chloride diarrhea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53689	"" []	5998419	\N	\N	EFO	8	EFO	experimental factor	Congenital chloride diarrhea
Orphanet:53690	\N	\N	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	77474	\N	\N	EFO	0	EFO	Congenital lactase deficiency	Congenital lactase deficiency
Orphanet:104006	Orphanet:53690	\N	"" []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	221314	\N	\N	EFO	1	EFO	Congenital intestinal disease due to an enzymatic defect	Congenital lactase deficiency
Orphanet:309001	Orphanet:53690	\N	"" []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	221315	\N	\N	EFO	1	EFO	Disorder of carbohydrate absorption and transport	Congenital lactase deficiency
Orphanet:165655	Orphanet:104006	\N	"" []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	577198	\N	\N	EFO	2	EFO	Genetic intestinal disease	Congenital lactase deficiency
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	577199	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Congenital lactase deficiency
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	1160494	\N	\N	EFO	3	EFO	digestive system disease	Congenital lactase deficiency
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	1160495	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Congenital lactase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	1160496	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Congenital lactase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	2043923	\N	\N	EFO	4	EFO	disease	Congenital lactase deficiency
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	2043924	\N	\N	EFO	4	EFO	genetic disorder	Congenital lactase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	2043925	\N	\N	EFO	4	EFO	genetic disorder	Congenital lactase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	2043926	\N	\N	EFO	4	EFO	metabolic disease	Congenital lactase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	4400276	\N	\N	EFO	6	EFO	disposition	Congenital lactase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	3194120	\N	\N	EFO	5	EFO	disease	Congenital lactase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	3194121	\N	\N	EFO	5	EFO	disease	Congenital lactase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	5183059	\N	\N	EFO	7	EFO	material property	Congenital lactase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53690	"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." []	5998420	\N	\N	EFO	8	EFO	experimental factor	Congenital lactase deficiency
Orphanet:53691	\N	\N	"" []	Orphanet:53691	"" []	77475	\N	\N	EFO	0	EFO	Congenital cornea plana	Congenital cornea plana
Orphanet:98621	Orphanet:53691	\N	"" []	Orphanet:53691	"" []	221316	\N	\N	EFO	1	EFO	Rare hyperopia and astigmatism	Congenital cornea plana
Orphanet:183601	Orphanet:98621	\N	"" []	Orphanet:53691	"" []	577200	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	Congenital cornea plana
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:53691	"" []	1160497	\N	\N	EFO	3	EFO	Rare genetic eye disease	Congenital cornea plana
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53691	"" []	2043927	\N	\N	EFO	4	EFO	genetic disorder	Congenital cornea plana
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:53691	"" []	2043928	\N	\N	EFO	4	EFO	eye disease	Congenital cornea plana
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53691	"" []	3194122	\N	\N	EFO	5	EFO	disease	Congenital cornea plana
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53691	"" []	3194123	\N	\N	EFO	5	EFO	disease	Congenital cornea plana
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53691	"" []	4400277	\N	\N	EFO	6	EFO	disposition	Congenital cornea plana
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53691	"" []	5416999	\N	\N	EFO	7	EFO	material property	Congenital cornea plana
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53691	"" []	6152249	\N	\N	EFO	8	EFO	experimental factor	Congenital cornea plana
Orphanet:53693	\N	\N	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	77476	\N	\N	EFO	0	EFO	GRACILE syndrome	GRACILE syndrome
Orphanet:309136	Orphanet:53693	\N	"" []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	221317	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	GRACILE syndrome
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	577201	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	GRACILE syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	1160498	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	GRACILE syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	2043929	\N	\N	EFO	4	EFO	Mitochondrial disease	GRACILE syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	3194124	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	GRACILE syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	3194125	\N	\N	EFO	5	EFO	Disorder of energy metabolism	GRACILE syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	4400278	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	GRACILE syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	4400279	\N	\N	EFO	6	EFO	Inborn errors of metabolism	GRACILE syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	5417000	\N	\N	EFO	7	EFO	genetic disorder	GRACILE syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	5417001	\N	\N	EFO	7	EFO	genetic disorder	GRACILE syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	5417002	\N	\N	EFO	7	EFO	metabolic disease	GRACILE syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	6152250	\N	\N	EFO	8	EFO	disease	GRACILE syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	6152251	\N	\N	EFO	8	EFO	disease	GRACILE syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	6633991	\N	\N	EFO	9	EFO	disposition	GRACILE syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	6926204	\N	\N	EFO	10	EFO	material property	GRACILE syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53693	"GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." []	7099302	\N	\N	EFO	11	EFO	experimental factor	GRACILE syndrome
Orphanet:53696	\N	\N	"" []	Orphanet:53696	"" []	77477	\N	\N	EFO	0	EFO	Lethal arthrogryposis - anterior horn cell disease	Lethal arthrogryposis - anterior horn cell disease
Orphanet:1037	Orphanet:53696	\N	"Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." []	Orphanet:53696	"" []	221318	\N	\N	EFO	1	EFO	Arthrogryposis multiplex congenita	Lethal arthrogryposis - anterior horn cell disease
Orphanet:109007	Orphanet:1037	\N	"" []	Orphanet:53696	"" []	577202	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Lethal arthrogryposis - anterior horn cell disease
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:53696	"" []	1160499	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Lethal arthrogryposis - anterior horn cell disease
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:53696	"" []	2043930	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Lethal arthrogryposis - anterior horn cell disease
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:53696	"" []	3194126	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lethal arthrogryposis - anterior horn cell disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53696	"" []	4400280	\N	\N	EFO	6	EFO	genetic disorder	Lethal arthrogryposis - anterior horn cell disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53696	"" []	5417003	\N	\N	EFO	7	EFO	disease	Lethal arthrogryposis - anterior horn cell disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53696	"" []	6152252	\N	\N	EFO	8	EFO	disposition	Lethal arthrogryposis - anterior horn cell disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53696	"" []	6633992	\N	\N	EFO	9	EFO	material property	Lethal arthrogryposis - anterior horn cell disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53696	"" []	6926205	\N	\N	EFO	10	EFO	experimental factor	Lethal arthrogryposis - anterior horn cell disease
Orphanet:53697	\N	\N	"" []	Orphanet:53697	"" []	77478	\N	\N	EFO	0	EFO	Gnathodiaphyseal dysplasia	Gnathodiaphyseal dysplasia
Orphanet:93446	Orphanet:53697	\N	"" []	Orphanet:53697	"" []	221319	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Gnathodiaphyseal dysplasia
Orphanet:93450	Orphanet:53697	\N	"" []	Orphanet:53697	"" []	221320	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Gnathodiaphyseal dysplasia
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:53697	"" []	577203	\N	\N	EFO	2	EFO	Primary bone dysplasia	Gnathodiaphyseal dysplasia
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:53697	"" []	577204	\N	\N	EFO	2	EFO	Primary bone dysplasia	Gnathodiaphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:53697	"" []	1160500	\N	\N	EFO	3	EFO	Rare genetic bone disease	Gnathodiaphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:53697	"" []	1160501	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Gnathodiaphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53697	"" []	2043931	\N	\N	EFO	4	EFO	genetic disorder	Gnathodiaphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:53697	"" []	2043932	\N	\N	EFO	4	EFO	bone disease	Gnathodiaphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:53697	"" []	2043933	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Gnathodiaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53697	"" []	4400283	\N	\N	EFO	6	EFO	disease	Gnathodiaphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:53697	"" []	3194128	\N	\N	EFO	5	EFO	skeletal system disease	Gnathodiaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53697	"" []	3194129	\N	\N	EFO	5	EFO	genetic disorder	Gnathodiaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53697	"" []	5183060	\N	\N	EFO	7	EFO	disposition	Gnathodiaphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53697	"" []	4400282	\N	\N	EFO	6	EFO	disease	Gnathodiaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53697	"" []	5998421	\N	\N	EFO	8	EFO	material property	Gnathodiaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53697	"" []	6551583	\N	\N	EFO	9	EFO	experimental factor	Gnathodiaphyseal dysplasia
Orphanet:53698	\N	\N	"" []	Orphanet:53698	"" []	77479	\N	\N	EFO	0	EFO	Hyaline body myopathy	Hyaline body myopathy
Orphanet:209185	Orphanet:53698	\N	"" []	Orphanet:53698	"" []	221321	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	Hyaline body myopathy
Orphanet:97245	Orphanet:53698	\N	"" []	Orphanet:53698	"" []	221322	\N	\N	EFO	1	EFO	Congenital myopathy	Hyaline body myopathy
Orphanet:207049	Orphanet:209185	\N	"" []	Orphanet:53698	"" []	577205	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Hyaline body myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:53698	"" []	577206	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Hyaline body myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:53698	"" []	1160502	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Hyaline body myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:53698	"" []	1160503	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Hyaline body myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:53698	"" []	3194132	\N	\N	EFO	5	EFO	muscular disease	Hyaline body myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:53698	"" []	3194133	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hyaline body myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:53698	"" []	2043936	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Hyaline body myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:53698	"" []	4134156	\N	\N	EFO	6	EFO	skeletal system disease	Hyaline body myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53698	"" []	4134157	\N	\N	EFO	6	EFO	genetic disorder	Hyaline body myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53698	"" []	5183061	\N	\N	EFO	7	EFO	disease	Hyaline body myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53698	"" []	5183062	\N	\N	EFO	7	EFO	disease	Hyaline body myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53698	"" []	5998422	\N	\N	EFO	8	EFO	disposition	Hyaline body myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53698	"" []	6551584	\N	\N	EFO	9	EFO	material property	Hyaline body myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53698	"" []	6889491	\N	\N	EFO	10	EFO	experimental factor	Hyaline body myopathy
Orphanet:53715	\N	\N	"" []	Orphanet:53715	"" []	77480	\N	\N	EFO	0	EFO	Tumoral calcinosis	Tumoral calcinosis
EFO:0003769	Orphanet:53715	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:53715	"" []	221323	\N	\N	EFO	1	EFO	endocrine neoplasm	Tumoral calcinosis
EFO:0005769	Orphanet:53715	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:53715	"" []	221324	\N	\N	EFO	1	EFO	calcium metabolic disease	Tumoral calcinosis
Orphanet:183487	Orphanet:53715	\N	"" []	Orphanet:53715	"" []	221325	\N	\N	EFO	1	EFO	Genetic skin tumor	Tumoral calcinosis
Orphanet:183634	Orphanet:53715	\N	"" []	Orphanet:53715	"" []	221326	\N	\N	EFO	1	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Tumoral calcinosis
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:53715	"" []	577207	\N	\N	EFO	2	EFO	neoplasm	Tumoral calcinosis
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:53715	"" []	577208	\N	\N	EFO	2	EFO	endocrine system disease	Tumoral calcinosis
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:53715	"" []	577209	\N	\N	EFO	2	EFO	metabolic disease	Tumoral calcinosis
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:53715	"" []	577210	\N	\N	EFO	2	EFO	skin neoplasm	Tumoral calcinosis
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:53715	"" []	577211	\N	\N	EFO	2	EFO	Rare genetic tumor	Tumoral calcinosis
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:53715	"" []	577212	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Tumoral calcinosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53715	"" []	2043938	\N	\N	EFO	4	EFO	disease	Tumoral calcinosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53715	"" []	2043941	\N	\N	EFO	4	EFO	disease	Tumoral calcinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53715	"" []	1160506	\N	\N	EFO	3	EFO	disease	Tumoral calcinosis
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:53715	"" []	1160507	\N	\N	EFO	3	EFO	neoplasm	Tumoral calcinosis
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:53715	"" []	1160508	\N	\N	EFO	3	EFO	skin disease	Tumoral calcinosis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53715	"" []	1160509	\N	\N	EFO	3	EFO	genetic disorder	Tumoral calcinosis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:53715	"" []	1160510	\N	\N	EFO	3	EFO	neoplasm	Tumoral calcinosis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53715	"" []	1160511	\N	\N	EFO	3	EFO	genetic disorder	Tumoral calcinosis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:53715	"" []	1160512	\N	\N	EFO	3	EFO	endocrine system disease	Tumoral calcinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53715	"" []	3000384	\N	\N	EFO	5	EFO	disposition	Tumoral calcinosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53715	"" []	2043939	\N	\N	EFO	4	EFO	disease	Tumoral calcinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53715	"" []	2043940	\N	\N	EFO	4	EFO	disease	Tumoral calcinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53715	"" []	4134158	\N	\N	EFO	6	EFO	material property	Tumoral calcinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53715	"" []	5183063	\N	\N	EFO	7	EFO	experimental factor	Tumoral calcinosis
Orphanet:53719	\N	\N	"ANPM" []	Orphanet:53719	"ANPM" []	77481	\N	\N	EFO	0	EFO	Wyburn-Mason syndrome	Wyburn-Mason syndrome
Orphanet:98592	Orphanet:53719	\N	"" []	Orphanet:53719	"ANPM" []	221327	\N	\N	EFO	1	EFO	Palpebral tumor with a vascular malformation	Wyburn-Mason syndrome
Orphanet:98580	Orphanet:98592	\N	"" []	Orphanet:53719	"ANPM" []	577213	\N	\N	EFO	2	EFO	Palpebral tumor	Wyburn-Mason syndrome
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:53719	"ANPM" []	1160513	\N	\N	EFO	3	EFO	Rare palpebral disease	Wyburn-Mason syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:53719	"ANPM" []	2043942	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Wyburn-Mason syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:53719	"ANPM" []	3194135	\N	\N	EFO	5	EFO	Rare genetic eye disease	Wyburn-Mason syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53719	"ANPM" []	4400287	\N	\N	EFO	6	EFO	genetic disorder	Wyburn-Mason syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:53719	"ANPM" []	4400288	\N	\N	EFO	6	EFO	eye disease	Wyburn-Mason syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53719	"ANPM" []	5417006	\N	\N	EFO	7	EFO	disease	Wyburn-Mason syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53719	"ANPM" []	5417007	\N	\N	EFO	7	EFO	disease	Wyburn-Mason syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53719	"ANPM" []	6152255	\N	\N	EFO	8	EFO	disposition	Wyburn-Mason syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53719	"ANPM" []	6633994	\N	\N	EFO	9	EFO	material property	Wyburn-Mason syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53719	"ANPM" []	6926206	\N	\N	EFO	10	EFO	experimental factor	Wyburn-Mason syndrome
Orphanet:53739	\N	\N	"" []	Orphanet:53739	"" []	77482	\N	\N	EFO	0	EFO	Distal hereditary motor neuropathy	Distal hereditary motor neuropathy
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:53739	"" []	221328	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Distal hereditary motor neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:53739	"" []	577214	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Distal hereditary motor neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:53739	"" []	1160514	\N	\N	EFO	3	EFO	genetic disorder	Distal hereditary motor neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:53739	"" []	2043943	\N	\N	EFO	4	EFO	disease	Distal hereditary motor neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:53739	"" []	3194136	\N	\N	EFO	5	EFO	disposition	Distal hereditary motor neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:53739	"" []	4400289	\N	\N	EFO	6	EFO	material property	Distal hereditary motor neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:53739	"" []	5417008	\N	\N	EFO	7	EFO	experimental factor	Distal hereditary motor neuropathy
Orphanet:538	\N	\N	"Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term)." []	Orphanet:538	"Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term)." []	77483	\N	\N	EFO	0	EFO	Lymphangioleiomyomatosis	Lymphangioleiomyomatosis
Orphanet:156610	Orphanet:538	\N	"" []	Orphanet:538	"Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term)." []	221329	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Lymphangioleiomyomatosis
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:538	"Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term)." []	577215	\N	\N	EFO	2	EFO	genetic disorder	Lymphangioleiomyomatosis
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:538	"Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term)." []	577216	\N	\N	EFO	2	EFO	respiratory system disease	Lymphangioleiomyomatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:538	"Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term)." []	1160515	\N	\N	EFO	3	EFO	disease	Lymphangioleiomyomatosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:538	"Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term)." []	1160516	\N	\N	EFO	3	EFO	disease	Lymphangioleiomyomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:538	"Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term)." []	2043944	\N	\N	EFO	4	EFO	disposition	Lymphangioleiomyomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:538	"Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term)." []	3194137	\N	\N	EFO	5	EFO	material property	Lymphangioleiomyomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:538	"Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term)." []	4400290	\N	\N	EFO	6	EFO	experimental factor	Lymphangioleiomyomatosis
Orphanet:54	\N	\N	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	77484	\N	\N	EFO	0	EFO	X-linked recessive ocular albinism	X-linked recessive ocular albinism
Orphanet:284804	Orphanet:54	\N	"" []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	221330	\N	\N	EFO	1	EFO	Ocular albinism	X-linked recessive ocular albinism
Orphanet:352728	Orphanet:284804	\N	"" []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	577217	\N	\N	EFO	2	EFO	Disorder of melanin metabolism	X-linked recessive ocular albinism
Orphanet:98706	Orphanet:284804	\N	"" []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	577218	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	X-linked recessive ocular albinism
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	1160517	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	X-linked recessive ocular albinism
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	1160518	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	X-linked recessive ocular albinism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	2043945	\N	\N	EFO	4	EFO	Inborn errors of metabolism	X-linked recessive ocular albinism
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	2043946	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	X-linked recessive ocular albinism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	3194138	\N	\N	EFO	5	EFO	genetic disorder	X-linked recessive ocular albinism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	3194139	\N	\N	EFO	5	EFO	metabolic disease	X-linked recessive ocular albinism
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	3194140	\N	\N	EFO	5	EFO	Rare genetic eye disease	X-linked recessive ocular albinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	5417010	\N	\N	EFO	7	EFO	disease	X-linked recessive ocular albinism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	4400292	\N	\N	EFO	6	EFO	disease	X-linked recessive ocular albinism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	4400293	\N	\N	EFO	6	EFO	genetic disorder	X-linked recessive ocular albinism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	4400294	\N	\N	EFO	6	EFO	eye disease	X-linked recessive ocular albinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	5998423	\N	\N	EFO	8	EFO	disposition	X-linked recessive ocular albinism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	5417011	\N	\N	EFO	7	EFO	disease	X-linked recessive ocular albinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	6551585	\N	\N	EFO	9	EFO	material property	X-linked recessive ocular albinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:54	"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." []	6889492	\N	\N	EFO	10	EFO	experimental factor	X-linked recessive ocular albinism
Orphanet:540	\N	\N	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	77485	\N	\N	EFO	0	EFO	Familial hemophagocytic lymphohistiocytosis	Familial hemophagocytic lymphohistiocytosis
Orphanet:158038	Orphanet:540	\N	"" []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	221331	\N	\N	EFO	1	EFO	Primary hemophagocytic lymphohistiocytosis	Familial hemophagocytic lymphohistiocytosis
Orphanet:169361	Orphanet:158038	\N	"" []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	577219	\N	\N	EFO	2	EFO	Immune dysregulation disease with immunodeficiency	Familial hemophagocytic lymphohistiocytosis
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	1160519	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Familial hemophagocytic lymphohistiocytosis
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	2043947	\N	\N	EFO	4	EFO	Primary immunodeficiency	Familial hemophagocytic lymphohistiocytosis
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	3194141	\N	\N	EFO	5	EFO	Rare genetic immune disease	Familial hemophagocytic lymphohistiocytosis
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	4400295	\N	\N	EFO	6	EFO	genetic disorder	Familial hemophagocytic lymphohistiocytosis
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	4400296	\N	\N	EFO	6	EFO	immune system disease	Familial hemophagocytic lymphohistiocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	5417012	\N	\N	EFO	7	EFO	disease	Familial hemophagocytic lymphohistiocytosis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	5417013	\N	\N	EFO	7	EFO	disease	Familial hemophagocytic lymphohistiocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	6152257	\N	\N	EFO	8	EFO	disposition	Familial hemophagocytic lymphohistiocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	6633996	\N	\N	EFO	9	EFO	material property	Familial hemophagocytic lymphohistiocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:540	"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." []	6926207	\N	\N	EFO	10	EFO	experimental factor	Familial hemophagocytic lymphohistiocytosis
Orphanet:54247	\N	\N	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	77486	\N	\N	EFO	0	EFO	Posterior cortical atrophy	Posterior cortical atrophy
Orphanet:183500	Orphanet:54247	\N	"" []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	221332	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Posterior cortical atrophy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	577220	\N	\N	EFO	2	EFO	neurodegenerative disease	Posterior cortical atrophy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	577221	\N	\N	EFO	2	EFO	brain disease	Posterior cortical atrophy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	577222	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Posterior cortical atrophy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	1160520	\N	\N	EFO	3	EFO	nervous system disease	Posterior cortical atrophy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	1160521	\N	\N	EFO	3	EFO	nervous system disease	Posterior cortical atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	1160522	\N	\N	EFO	3	EFO	genetic disorder	Posterior cortical atrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	2043948	\N	\N	EFO	4	EFO	disease	Posterior cortical atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	2043949	\N	\N	EFO	4	EFO	disease	Posterior cortical atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	3194142	\N	\N	EFO	5	EFO	disposition	Posterior cortical atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	4400297	\N	\N	EFO	6	EFO	material property	Posterior cortical atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:54247	"Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." []	5417014	\N	\N	EFO	7	EFO	experimental factor	Posterior cortical atrophy
Orphanet:54260	\N	\N	"Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." []	Orphanet:54260	"Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." []	77487	\N	\N	EFO	0	EFO	Left ventricular noncompaction	Left ventricular noncompaction
Orphanet:98054	Orphanet:54260	\N	"" []	Orphanet:54260	"Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." []	221333	\N	\N	EFO	1	EFO	Rare genetic cardiac disease	Left ventricular noncompaction
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:54260	"Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." []	577223	\N	\N	EFO	2	EFO	genetic disorder	Left ventricular noncompaction
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:54260	"Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." []	577224	\N	\N	EFO	2	EFO	heart disease	Left ventricular noncompaction
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:54260	"Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." []	1160523	\N	\N	EFO	3	EFO	disease	Left ventricular noncompaction
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:54260	"Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." []	1160524	\N	\N	EFO	3	EFO	cardiovascular disease	Left ventricular noncompaction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:54260	"Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." []	3194144	\N	\N	EFO	5	EFO	disposition	Left ventricular noncompaction
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:54260	"Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." []	2043951	\N	\N	EFO	4	EFO	disease	Left ventricular noncompaction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:54260	"Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." []	4134159	\N	\N	EFO	6	EFO	material property	Left ventricular noncompaction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:54260	"Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." []	5183064	\N	\N	EFO	7	EFO	experimental factor	Left ventricular noncompaction
Orphanet:54370	\N	\N	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	Orphanet:54370	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	77488	\N	\N	EFO	0	EFO	Primary membranoproliferative glomerulonephritis	Primary membranoproliferative glomerulonephritis
Orphanet:102373	Orphanet:54370	\N	"" []	Orphanet:54370	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	221334	\N	\N	EFO	1	EFO	Primary glomerular disease	Primary membranoproliferative glomerulonephritis
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:54370	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	577225	\N	\N	EFO	2	EFO	Genetic glomerular disease	Primary membranoproliferative glomerulonephritis
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:54370	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	1160525	\N	\N	EFO	3	EFO	Rare genetic renal disease	Primary membranoproliferative glomerulonephritis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:54370	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	2043952	\N	\N	EFO	4	EFO	genetic disorder	Primary membranoproliferative glomerulonephritis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:54370	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	3194145	\N	\N	EFO	5	EFO	disease	Primary membranoproliferative glomerulonephritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:54370	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	4400299	\N	\N	EFO	6	EFO	disposition	Primary membranoproliferative glomerulonephritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:54370	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	5417015	\N	\N	EFO	7	EFO	material property	Primary membranoproliferative glomerulonephritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:54370	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	6152258	\N	\N	EFO	8	EFO	experimental factor	Primary membranoproliferative glomerulonephritis
Orphanet:55	\N	\N	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	77489	\N	\N	EFO	0	EFO	Oculocutaneous albinism	Oculocutaneous albinism
Orphanet:183469	Orphanet:55	\N	"" []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	221335	\N	\N	EFO	1	EFO	Genetic hypopigmentation of the skin	Oculocutaneous albinism
Orphanet:352728	Orphanet:55	\N	"" []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	221336	\N	\N	EFO	1	EFO	Disorder of melanin metabolism	Oculocutaneous albinism
Orphanet:98706	Orphanet:55	\N	"" []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	221337	\N	\N	EFO	1	EFO	Oculocutaneous or ocular albinism	Oculocutaneous albinism
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	577226	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Oculocutaneous albinism
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	577227	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Oculocutaneous albinism
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	577228	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement	Oculocutaneous albinism
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	1160526	\N	\N	EFO	3	EFO	Rare genetic skin disease	Oculocutaneous albinism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	1160527	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Oculocutaneous albinism
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	1160528	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Oculocutaneous albinism
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	2043953	\N	\N	EFO	4	EFO	genetic disorder	Oculocutaneous albinism
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	2043954	\N	\N	EFO	4	EFO	skin disease	Oculocutaneous albinism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	2043955	\N	\N	EFO	4	EFO	genetic disorder	Oculocutaneous albinism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	2043956	\N	\N	EFO	4	EFO	metabolic disease	Oculocutaneous albinism
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	2043957	\N	\N	EFO	4	EFO	Rare genetic eye disease	Oculocutaneous albinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	4400301	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	3194147	\N	\N	EFO	5	EFO	disease	Oculocutaneous albinism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	3194148	\N	\N	EFO	5	EFO	disease	Oculocutaneous albinism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	3194149	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	3194150	\N	\N	EFO	5	EFO	eye disease	Oculocutaneous albinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	5183065	\N	\N	EFO	7	EFO	disposition	Oculocutaneous albinism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	4400302	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	5998424	\N	\N	EFO	8	EFO	material property	Oculocutaneous albinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:55	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	6551586	\N	\N	EFO	9	EFO	experimental factor	Oculocutaneous albinism
Orphanet:550	\N	\N	"" []	Orphanet:550	"" []	77490	\N	\N	EFO	0	EFO	MELAS	MELAS
Orphanet:206966	Orphanet:550	\N	"" []	Orphanet:550	"" []	221338	\N	\N	EFO	1	EFO	Mitochondrial myopathy	MELAS
Orphanet:217587	Orphanet:550	\N	"" []	Orphanet:550	"" []	221339	\N	\N	EFO	1	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	MELAS
Orphanet:217613	Orphanet:550	\N	"" []	Orphanet:550	"" []	221340	\N	\N	EFO	1	EFO	Mitochondrial disease with dilated cardiomyopathy	MELAS
Orphanet:225703	Orphanet:550	\N	"" []	Orphanet:550	"" []	221341	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	MELAS
Orphanet:254776	Orphanet:550	\N	"" []	Orphanet:550	"" []	221342	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	MELAS
Orphanet:68385	Orphanet:550	\N	"" []	Orphanet:550	"" []	221343	\N	\N	EFO	1	EFO	Neurometabolic disease	MELAS
Orphanet:90642	Orphanet:550	\N	"" []	Orphanet:550	"" []	221344	\N	\N	EFO	1	EFO	Syndromic genetic deafness	MELAS
Orphanet:98695	Orphanet:550	\N	"" []	Orphanet:550	"" []	221345	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	MELAS
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:550	"" []	577229	\N	\N	EFO	2	EFO	Muscular lipidosis	MELAS
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:550	"" []	577230	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	MELAS
Orphanet:217607	Orphanet:217613	\N	"" []	Orphanet:550	"" []	577231	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	MELAS
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:550	"" []	577232	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	MELAS
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:550	"" []	577233	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	MELAS
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:550	"" []	577234	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	MELAS
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:550	"" []	577235	\N	\N	EFO	2	EFO	Rare genetic deafness	MELAS
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:550	"" []	577236	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	MELAS
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:550	"" []	1160529	\N	\N	EFO	3	EFO	Metabolic myopathy	MELAS
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:550	"" []	1160530	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	MELAS
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:550	"" []	1160531	\N	\N	EFO	3	EFO	cardiomyopathy	MELAS
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:550	"" []	1160532	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	MELAS
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:550	"" []	1160533	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	MELAS
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:550	"" []	1160534	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	MELAS
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:550	"" []	6152261	\N	\N	EFO	8	EFO	genetic disorder	MELAS
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:550	"" []	1160536	\N	\N	EFO	3	EFO	genetic disorder	MELAS
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:550	"" []	1160537	\N	\N	EFO	3	EFO	auditory system disease	MELAS
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:550	"" []	1160538	\N	\N	EFO	3	EFO	Rare genetic eye disease	MELAS
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:550	"" []	2043958	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	MELAS
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:550	"" []	2043959	\N	\N	EFO	4	EFO	genetic disorder	MELAS
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:550	"" []	2043960	\N	\N	EFO	4	EFO	heart disease	MELAS
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:550	"" []	2043961	\N	\N	EFO	4	EFO	heart disease	MELAS
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:550	"" []	2043962	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	MELAS
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:550	"" []	2043963	\N	\N	EFO	4	EFO	Mitochondrial disease	MELAS
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:550	"" []	6370826	\N	\N	EFO	9	EFO	disease	MELAS
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:550	"" []	2043965	\N	\N	EFO	4	EFO	sensory system disease	MELAS
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:550	"" []	2043966	\N	\N	EFO	4	EFO	genetic disorder	MELAS
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:550	"" []	2043967	\N	\N	EFO	4	EFO	eye disease	MELAS
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:550	"" []	3194151	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	MELAS
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:550	"" []	3194153	\N	\N	EFO	5	EFO	cardiovascular disease	MELAS
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:550	"" []	3194154	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	MELAS
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:550	"" []	3194155	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	MELAS
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:550	"" []	3194156	\N	\N	EFO	5	EFO	Disorder of energy metabolism	MELAS
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:550	"" []	6762392	\N	\N	EFO	10	EFO	disposition	MELAS
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:550	"" []	3194158	\N	\N	EFO	5	EFO	nervous system disease	MELAS
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:550	"" []	3194159	\N	\N	EFO	5	EFO	disease	MELAS
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:550	"" []	4400303	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	MELAS
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:550	"" []	4400304	\N	\N	EFO	6	EFO	disease	MELAS
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:550	"" []	4400306	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	MELAS
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:550	"" []	4400307	\N	\N	EFO	6	EFO	Inborn errors of metabolism	MELAS
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:550	"" []	7015705	\N	\N	EFO	11	EFO	material property	MELAS
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:550	"" []	4400309	\N	\N	EFO	6	EFO	disease	MELAS
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:550	"" []	5417017	\N	\N	EFO	7	EFO	muscular disease	MELAS
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:550	"" []	5417018	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	MELAS
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:550	"" []	5417020	\N	\N	EFO	7	EFO	genetic disorder	MELAS
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:550	"" []	5417021	\N	\N	EFO	7	EFO	genetic disorder	MELAS
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:550	"" []	5417022	\N	\N	EFO	7	EFO	metabolic disease	MELAS
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:550	"" []	7173653	\N	\N	EFO	12	EFO	experimental factor	MELAS
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:550	"" []	6152260	\N	\N	EFO	8	EFO	skeletal system disease	MELAS
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:550	"" []	6152263	\N	\N	EFO	8	EFO	disease	MELAS
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:550	"" []	6633997	\N	\N	EFO	9	EFO	disease	MELAS
Orphanet:551	\N	\N	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	77491	\N	\N	EFO	0	EFO	MERRF	MERRF
Orphanet:206966	Orphanet:551	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	221346	\N	\N	EFO	1	EFO	Mitochondrial myopathy	MERRF
Orphanet:217587	Orphanet:551	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	221347	\N	\N	EFO	1	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	MERRF
Orphanet:217613	Orphanet:551	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	221348	\N	\N	EFO	1	EFO	Mitochondrial disease with dilated cardiomyopathy	MERRF
Orphanet:225703	Orphanet:551	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	221349	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	MERRF
Orphanet:254776	Orphanet:551	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	221350	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	MERRF
Orphanet:68385	Orphanet:551	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	221351	\N	\N	EFO	1	EFO	Neurometabolic disease	MERRF
Orphanet:98261	Orphanet:551	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	221352	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	MERRF
Orphanet:98695	Orphanet:551	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	221353	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	MERRF
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	577237	\N	\N	EFO	2	EFO	Muscular lipidosis	MERRF
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	577238	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	MERRF
Orphanet:217607	Orphanet:217613	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	577239	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	MERRF
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	577240	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	MERRF
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	577241	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	MERRF
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	577242	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	MERRF
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	577243	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	MERRF
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	577244	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	MERRF
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	577245	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	MERRF
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	1160539	\N	\N	EFO	3	EFO	Metabolic myopathy	MERRF
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	1160540	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	MERRF
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	1160541	\N	\N	EFO	3	EFO	cardiomyopathy	MERRF
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	1160542	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	MERRF
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	1160543	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	MERRF
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	1160544	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	MERRF
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	6152265	\N	\N	EFO	8	EFO	genetic disorder	MERRF
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	1160546	\N	\N	EFO	3	EFO	Epilepsy syndrome	MERRF
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	1160547	\N	\N	EFO	3	EFO	Epilepsy syndrome	MERRF
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	1160548	\N	\N	EFO	3	EFO	Rare genetic eye disease	MERRF
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	2043968	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	MERRF
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	2043969	\N	\N	EFO	4	EFO	genetic disorder	MERRF
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	2043970	\N	\N	EFO	4	EFO	heart disease	MERRF
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	2043971	\N	\N	EFO	4	EFO	heart disease	MERRF
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	2043972	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	MERRF
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	2043973	\N	\N	EFO	4	EFO	Mitochondrial disease	MERRF
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	6370827	\N	\N	EFO	9	EFO	disease	MERRF
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	2043975	\N	\N	EFO	4	EFO	Rare genetic epilepsy	MERRF
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	2043976	\N	\N	EFO	4	EFO	genetic disorder	MERRF
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	2043977	\N	\N	EFO	4	EFO	eye disease	MERRF
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	3194160	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	MERRF
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	3194162	\N	\N	EFO	5	EFO	cardiovascular disease	MERRF
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	3194163	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	MERRF
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	3194164	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	MERRF
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	3194165	\N	\N	EFO	5	EFO	Disorder of energy metabolism	MERRF
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	6762393	\N	\N	EFO	10	EFO	disposition	MERRF
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	3194167	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	MERRF
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	3194168	\N	\N	EFO	5	EFO	disease	MERRF
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	4400310	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	MERRF
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	4400311	\N	\N	EFO	6	EFO	disease	MERRF
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	4400313	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	MERRF
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	4400314	\N	\N	EFO	6	EFO	Inborn errors of metabolism	MERRF
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	7015706	\N	\N	EFO	11	EFO	material property	MERRF
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	5417024	\N	\N	EFO	7	EFO	muscular disease	MERRF
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	5417025	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	MERRF
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	5417027	\N	\N	EFO	7	EFO	genetic disorder	MERRF
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	5417028	\N	\N	EFO	7	EFO	genetic disorder	MERRF
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	5417029	\N	\N	EFO	7	EFO	metabolic disease	MERRF
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	7173654	\N	\N	EFO	12	EFO	experimental factor	MERRF
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	6152264	\N	\N	EFO	8	EFO	skeletal system disease	MERRF
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	6152267	\N	\N	EFO	8	EFO	disease	MERRF
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:551	"A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" []	6633998	\N	\N	EFO	9	EFO	disease	MERRF
Orphanet:552	\N	\N	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	77492	\N	\N	EFO	0	EFO	MODY	MODY
Orphanet:183625	Orphanet:552	\N	"" []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	221354	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	MODY
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	577246	\N	\N	EFO	2	EFO	diabetes mellitus	MODY
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	577247	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	MODY
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	1160549	\N	\N	EFO	3	EFO	metabolic disease	MODY
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	1160550	\N	\N	EFO	3	EFO	genetic disorder	MODY
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	1160551	\N	\N	EFO	3	EFO	endocrine system disease	MODY
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	2043978	\N	\N	EFO	4	EFO	disease	MODY
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	2043979	\N	\N	EFO	4	EFO	disease	MODY
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	2043980	\N	\N	EFO	4	EFO	disease	MODY
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	3194169	\N	\N	EFO	5	EFO	disposition	MODY
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	4400316	\N	\N	EFO	6	EFO	material property	MODY
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:552	"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." []	5417031	\N	\N	EFO	7	EFO	experimental factor	MODY
Orphanet:55595	\N	\N	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	77493	\N	\N	EFO	0	EFO	Autosomal dominant limb-girdle muscular dystrophy type 1F	Autosomal dominant limb-girdle muscular dystrophy type 1F
Orphanet:102014	Orphanet:55595	\N	"" []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	221355	\N	\N	EFO	1	EFO	Autosomal dominant limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1F
Orphanet:263	Orphanet:102014	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	577248	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1F
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	1160552	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1F
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	2043981	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1F
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	3194170	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal dominant limb-girdle muscular dystrophy type 1F
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	4400317	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1F
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	5417032	\N	\N	EFO	7	EFO	muscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1F
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	5417033	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal dominant limb-girdle muscular dystrophy type 1F
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	6152268	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal dominant limb-girdle muscular dystrophy type 1F
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	6152269	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant limb-girdle muscular dystrophy type 1F
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	6633999	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1F
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	6634000	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1F
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	6926208	\N	\N	EFO	10	EFO	disposition	Autosomal dominant limb-girdle muscular dystrophy type 1F
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	7099303	\N	\N	EFO	11	EFO	material property	Autosomal dominant limb-girdle muscular dystrophy type 1F
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:55595	"Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." []	7208354	\N	\N	EFO	12	EFO	experimental factor	Autosomal dominant limb-girdle muscular dystrophy type 1F
Orphanet:55596	\N	\N	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	77494	\N	\N	EFO	0	EFO	Autosomal dominant limb-girdle muscular dystrophy type 1G	Autosomal dominant limb-girdle muscular dystrophy type 1G
Orphanet:102014	Orphanet:55596	\N	"" []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	221356	\N	\N	EFO	1	EFO	Autosomal dominant limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1G
Orphanet:263	Orphanet:102014	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	577249	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1G
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	1160553	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1G
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	2043982	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1G
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	3194171	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal dominant limb-girdle muscular dystrophy type 1G
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	4400318	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1G
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	5417034	\N	\N	EFO	7	EFO	muscular disease	Autosomal dominant limb-girdle muscular dystrophy type 1G
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	5417035	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal dominant limb-girdle muscular dystrophy type 1G
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	6152270	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal dominant limb-girdle muscular dystrophy type 1G
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	6152271	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant limb-girdle muscular dystrophy type 1G
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	6634001	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1G
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	6634002	\N	\N	EFO	9	EFO	disease	Autosomal dominant limb-girdle muscular dystrophy type 1G
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	6926209	\N	\N	EFO	10	EFO	disposition	Autosomal dominant limb-girdle muscular dystrophy type 1G
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	7099304	\N	\N	EFO	11	EFO	material property	Autosomal dominant limb-girdle muscular dystrophy type 1G
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:55596	"Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." []	7208355	\N	\N	EFO	12	EFO	experimental factor	Autosomal dominant limb-girdle muscular dystrophy type 1G
Orphanet:55654	\N	\N	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	Orphanet:55654	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	77495	\N	\N	EFO	0	EFO	Hypotrichosis simplex	Hypotrichosis simplex
Orphanet:79364	Orphanet:55654	\N	"" []	Orphanet:55654	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	221357	\N	\N	EFO	1	EFO	Alopecia	Hypotrichosis simplex
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:55654	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	577250	\N	\N	EFO	2	EFO	Genetic hair anomaly	Hypotrichosis simplex
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:55654	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	1160554	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Hypotrichosis simplex
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:55654	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	2043983	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hypotrichosis simplex
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:55654	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	3194172	\N	\N	EFO	5	EFO	genetic disorder	Hypotrichosis simplex
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:55654	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	3194173	\N	\N	EFO	5	EFO	skin disease	Hypotrichosis simplex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55654	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	4400319	\N	\N	EFO	6	EFO	disease	Hypotrichosis simplex
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55654	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	4400320	\N	\N	EFO	6	EFO	disease	Hypotrichosis simplex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:55654	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	5417036	\N	\N	EFO	7	EFO	disposition	Hypotrichosis simplex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:55654	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	6152272	\N	\N	EFO	8	EFO	material property	Hypotrichosis simplex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:55654	"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." []	6634003	\N	\N	EFO	9	EFO	experimental factor	Hypotrichosis simplex
Orphanet:557	\N	\N	"" []	Orphanet:557	"" []	77496	\N	\N	EFO	0	EFO	Isolated anorectal malformation	Isolated anorectal malformation
Orphanet:96346	Orphanet:557	\N	"" []	Orphanet:557	"" []	221358	\N	\N	EFO	1	EFO	Anorectal malformation	Isolated anorectal malformation
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:557	"" []	577251	\N	\N	EFO	2	EFO	Genetic digestive tract malformation	Isolated anorectal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:557	"" []	1160555	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Isolated anorectal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:557	"" []	2043984	\N	\N	EFO	4	EFO	genetic disorder	Isolated anorectal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:557	"" []	3194174	\N	\N	EFO	5	EFO	disease	Isolated anorectal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:557	"" []	4400321	\N	\N	EFO	6	EFO	disposition	Isolated anorectal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:557	"" []	5417037	\N	\N	EFO	7	EFO	material property	Isolated anorectal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:557	"" []	6152273	\N	\N	EFO	8	EFO	experimental factor	Isolated anorectal malformation
Orphanet:558	\N	\N	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	77497	\N	\N	EFO	0	EFO	Marfan syndrome	Marfan syndrome
Orphanet:139030	Orphanet:558	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	221359	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Marfan syndrome
Orphanet:284993	Orphanet:558	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	221360	\N	\N	EFO	1	EFO	Marfan and Marfan-related disorder	Marfan syndrome
Orphanet:285014	Orphanet:558	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	221361	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Marfan syndrome
Orphanet:98620	Orphanet:558	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	221362	\N	\N	EFO	1	EFO	Syndromic myopia	Marfan syndrome
Orphanet:98623	Orphanet:558	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	221363	\N	\N	EFO	1	EFO	Syndromic keratoconus	Marfan syndrome
Orphanet:98653	Orphanet:558	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	221364	\N	\N	EFO	1	EFO	Lens position anomaly	Marfan syndrome
Orphanet:98702	Orphanet:558	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	221365	\N	\N	EFO	1	EFO	Connective tissue disease with eye involvement	Marfan syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	577252	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Marfan syndrome
Orphanet:271870	Orphanet:284993	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	577253	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Marfan syndrome
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	577254	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Marfan syndrome
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	577255	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	Marfan syndrome
Orphanet:156071	Orphanet:98623	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	577256	\N	\N	EFO	2	EFO	Keratoconus	Marfan syndrome
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	577257	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Marfan syndrome
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	577258	\N	\N	EFO	2	EFO	connective tissue disease	Marfan syndrome
Orphanet:101435	Orphanet:98702	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	577259	\N	\N	EFO	2	EFO	Rare genetic eye disease	Marfan syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	1160556	\N	\N	EFO	3	EFO	genetic disorder	Marfan syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	1160557	\N	\N	EFO	3	EFO	genetic disorder	Marfan syndrome
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	1160558	\N	\N	EFO	3	EFO	genetic disorder	Marfan syndrome
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	1160559	\N	\N	EFO	3	EFO	vascular disease	Marfan syndrome
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	1160560	\N	\N	EFO	3	EFO	Rare genetic eye disease	Marfan syndrome
Orphanet:101435	Orphanet:156071	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	1160561	\N	\N	EFO	3	EFO	Rare genetic eye disease	Marfan syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	1160562	\N	\N	EFO	3	EFO	Rare genetic eye disease	Marfan syndrome
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	1160563	\N	\N	EFO	3	EFO	skeletal system disease	Marfan syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	2043987	\N	\N	EFO	4	EFO	genetic disorder	Marfan syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	2043988	\N	\N	EFO	4	EFO	eye disease	Marfan syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	3000385	\N	\N	EFO	5	EFO	disease	Marfan syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	2043986	\N	\N	EFO	4	EFO	cardiovascular disease	Marfan syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	2043989	\N	\N	EFO	4	EFO	disease	Marfan syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	3000386	\N	\N	EFO	5	EFO	disease	Marfan syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	4134162	\N	\N	EFO	6	EFO	disposition	Marfan syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	3194176	\N	\N	EFO	5	EFO	disease	Marfan syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	5183068	\N	\N	EFO	7	EFO	material property	Marfan syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:558	"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." []	5998427	\N	\N	EFO	8	EFO	experimental factor	Marfan syndrome
Orphanet:55881	\N	\N	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	77498	\N	\N	EFO	0	EFO	Adamantinoma	Adamantinoma
Orphanet:183527	Orphanet:55881	\N	"" []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	221366	\N	\N	EFO	1	EFO	Genetic bone tumor	Adamantinoma
EFO:0003820	Orphanet:183527	\N	"Tumors or cancer located in bone tissue or specific BONES." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	577260	\N	\N	EFO	2	EFO	bone neoplasm	Adamantinoma
EFO:0004260	Orphanet:183527	\N	"Diseases of BONES." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	577261	\N	\N	EFO	2	EFO	bone disease	Adamantinoma
Orphanet:68336	Orphanet:183527	\N	"" []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	577262	\N	\N	EFO	2	EFO	Rare genetic tumor	Adamantinoma
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	1160566	\N	\N	EFO	3	EFO	neoplasm	Adamantinoma
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	1160567	\N	\N	EFO	3	EFO	skeletal system disease	Adamantinoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	1160568	\N	\N	EFO	3	EFO	genetic disorder	Adamantinoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	1160569	\N	\N	EFO	3	EFO	neoplasm	Adamantinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	2043991	\N	\N	EFO	4	EFO	disease	Adamantinoma
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	2043992	\N	\N	EFO	4	EFO	disease	Adamantinoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	2043993	\N	\N	EFO	4	EFO	disease	Adamantinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	3194177	\N	\N	EFO	5	EFO	disposition	Adamantinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	4400323	\N	\N	EFO	6	EFO	material property	Adamantinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:55881	"Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed." []	5417039	\N	\N	EFO	7	EFO	experimental factor	Adamantinoma
Orphanet:559	\N	\N	"" []	Orphanet:559	"" []	77499	\N	\N	EFO	0	EFO	Marinesco-Sjgren syndrome	Marinesco-Sjgren syndrome
Orphanet:108987	Orphanet:559	\N	"" []	Orphanet:559	"" []	221367	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Marinesco-Sjgren syndrome
Orphanet:207028	Orphanet:559	\N	"" []	Orphanet:559	"" []	221368	\N	\N	EFO	1	EFO	Cerebellar ataxia with peripheral neuropathy	Marinesco-Sjgren syndrome
Orphanet:98098	Orphanet:559	\N	"" []	Orphanet:559	"" []	221369	\N	\N	EFO	1	EFO	Autosomal recessive degenerative and progressive cerebellar ataxia	Marinesco-Sjgren syndrome
Orphanet:98574	Orphanet:559	\N	"" []	Orphanet:559	"" []	221370	\N	\N	EFO	1	EFO	Syndromic epicanthus	Marinesco-Sjgren syndrome
Orphanet:98645	Orphanet:559	\N	"" []	Orphanet:559	"" []	221371	\N	\N	EFO	1	EFO	Cerebral disease with cataract	Marinesco-Sjgren syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:559	"" []	577263	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Marinesco-Sjgren syndrome
Orphanet:207025	Orphanet:207028	\N	"" []	Orphanet:559	"" []	577264	\N	\N	EFO	2	EFO	Rare hereditary neurologic disease with peripheral neuropathy	Marinesco-Sjgren syndrome
Orphanet:1172	Orphanet:98098	\N	"" []	Orphanet:559	"" []	577265	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Marinesco-Sjgren syndrome
Orphanet:98573	Orphanet:98574	\N	"" []	Orphanet:559	"" []	577266	\N	\N	EFO	2	EFO	Epicanthal fold	Marinesco-Sjgren syndrome
Orphanet:98643	Orphanet:98645	\N	"" []	Orphanet:559	"" []	577267	\N	\N	EFO	2	EFO	Systemic disease with cataract	Marinesco-Sjgren syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:559	"" []	1160570	\N	\N	EFO	3	EFO	Rare genetic eye disease	Marinesco-Sjgren syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:559	"" []	1160571	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Marinesco-Sjgren syndrome
Orphanet:207015	Orphanet:207025	\N	"" []	Orphanet:559	"" []	1160572	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Marinesco-Sjgren syndrome
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:559	"" []	1160573	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Marinesco-Sjgren syndrome
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:559	"" []	1160574	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Marinesco-Sjgren syndrome
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:559	"" []	1160575	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Marinesco-Sjgren syndrome
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:559	"" []	1160576	\N	\N	EFO	3	EFO	Canthal anomaly	Marinesco-Sjgren syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:559	"" []	1160577	\N	\N	EFO	3	EFO	Syndromic cataract	Marinesco-Sjgren syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:559	"" []	5417046	\N	\N	EFO	7	EFO	genetic disorder	Marinesco-Sjgren syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:559	"" []	5417047	\N	\N	EFO	7	EFO	eye disease	Marinesco-Sjgren syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:559	"" []	2043996	\N	\N	EFO	4	EFO	genetic disorder	Marinesco-Sjgren syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:559	"" []	2043997	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Marinesco-Sjgren syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:559	"" []	2043998	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Marinesco-Sjgren syndrome
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:559	"" []	2043999	\N	\N	EFO	4	EFO	Ataxia with dementia	Marinesco-Sjgren syndrome
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:559	"" []	2044000	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Marinesco-Sjgren syndrome
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:559	"" []	2044001	\N	\N	EFO	4	EFO	Rare palpebral disease	Marinesco-Sjgren syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:559	"" []	2044002	\N	\N	EFO	4	EFO	Rare cataract	Marinesco-Sjgren syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:559	"" []	6410268	\N	\N	EFO	9	EFO	disease	Marinesco-Sjgren syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:559	"" []	5817786	\N	\N	EFO	8	EFO	disease	Marinesco-Sjgren syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:559	"" []	3194180	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Marinesco-Sjgren syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:559	"" []	6152276	\N	\N	EFO	8	EFO	genetic disorder	Marinesco-Sjgren syndrome
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:559	"" []	3194182	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Marinesco-Sjgren syndrome
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:559	"" []	3194183	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Marinesco-Sjgren syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:559	"" []	3194184	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Marinesco-Sjgren syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:559	"" []	3194185	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Marinesco-Sjgren syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:559	"" []	6778787	\N	\N	EFO	10	EFO	disposition	Marinesco-Sjgren syndrome
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:559	"" []	4400327	\N	\N	EFO	6	EFO	Genetic dementia	Marinesco-Sjgren syndrome
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:559	"" []	4400328	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Marinesco-Sjgren syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:559	"" []	4400329	\N	\N	EFO	6	EFO	Rare genetic eye disease	Marinesco-Sjgren syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:559	"" []	4400330	\N	\N	EFO	6	EFO	Rare genetic eye disease	Marinesco-Sjgren syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:559	"" []	4400331	\N	\N	EFO	6	EFO	Rare genetic eye disease	Marinesco-Sjgren syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:559	"" []	7029982	\N	\N	EFO	11	EFO	material property	Marinesco-Sjgren syndrome
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:559	"" []	5417041	\N	\N	EFO	7	EFO	brain disease	Marinesco-Sjgren syndrome
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:559	"" []	5417042	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Marinesco-Sjgren syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:559	"" []	5417043	\N	\N	EFO	7	EFO	neurodegenerative disease	Marinesco-Sjgren syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:559	"" []	5417044	\N	\N	EFO	7	EFO	brain disease	Marinesco-Sjgren syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:559	"" []	5417045	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Marinesco-Sjgren syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:559	"" []	7181814	\N	\N	EFO	12	EFO	experimental factor	Marinesco-Sjgren syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:559	"" []	6152275	\N	\N	EFO	8	EFO	nervous system disease	Marinesco-Sjgren syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:559	"" []	6152277	\N	\N	EFO	8	EFO	nervous system disease	Marinesco-Sjgren syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:559	"" []	6634004	\N	\N	EFO	9	EFO	disease	Marinesco-Sjgren syndrome
Orphanet:56	\N	\N	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	77500	\N	\N	EFO	0	EFO	Alkaptonuria	Alkaptonuria
Orphanet:284818	Orphanet:56	\N	"" []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	221372	\N	\N	EFO	1	EFO	Disorder of tyrosine metabolism	Alkaptonuria
Orphanet:79387	Orphanet:56	\N	"" []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	221373	\N	\N	EFO	1	EFO	Metabolic disease with skin involvement	Alkaptonuria
Orphanet:98615	Orphanet:56	\N	"" []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	221374	\N	\N	EFO	1	EFO	Pigmented conjunctival lesion	Alkaptonuria
Orphanet:79190	Orphanet:284818	\N	"" []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	577268	\N	\N	EFO	2	EFO	Disorder of phenylalanin or tyrosine metabolism	Alkaptonuria
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	577269	\N	\N	EFO	2	EFO	Rare genetic skin disease	Alkaptonuria
Orphanet:98610	Orphanet:98615	\N	"" []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	577270	\N	\N	EFO	2	EFO	Rare conjunctival disease	Alkaptonuria
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	1160578	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Alkaptonuria
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	1160579	\N	\N	EFO	3	EFO	genetic disorder	Alkaptonuria
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	1160580	\N	\N	EFO	3	EFO	skin disease	Alkaptonuria
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	1160581	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Alkaptonuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	2044003	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Alkaptonuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	4400332	\N	\N	EFO	6	EFO	disease	Alkaptonuria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	2044005	\N	\N	EFO	4	EFO	disease	Alkaptonuria
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	2044006	\N	\N	EFO	4	EFO	Rare genetic eye disease	Alkaptonuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	3194186	\N	\N	EFO	5	EFO	genetic disorder	Alkaptonuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	3194187	\N	\N	EFO	5	EFO	metabolic disease	Alkaptonuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	5060145	\N	\N	EFO	7	EFO	disposition	Alkaptonuria
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	3194189	\N	\N	EFO	5	EFO	genetic disorder	Alkaptonuria
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	3194190	\N	\N	EFO	5	EFO	eye disease	Alkaptonuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	4400333	\N	\N	EFO	6	EFO	disease	Alkaptonuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	5877572	\N	\N	EFO	8	EFO	material property	Alkaptonuria
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	4400335	\N	\N	EFO	6	EFO	disease	Alkaptonuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:56	"Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." []	6470808	\N	\N	EFO	9	EFO	experimental factor	Alkaptonuria
Orphanet:560	\N	\N	"" []	Orphanet:560	"" []	77501	\N	\N	EFO	0	EFO	Marshall syndrome	Marshall syndrome
Orphanet:108987	Orphanet:560	\N	"" []	Orphanet:560	"" []	221375	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Marshall syndrome
Orphanet:253	Orphanet:560	\N	"" []	Orphanet:560	"" []	221376	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Marshall syndrome
Orphanet:330206	Orphanet:560	\N	"" []	Orphanet:560	"" []	221377	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Marshall syndrome
Orphanet:79373	Orphanet:560	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:560	"" []	221378	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Marshall syndrome
Orphanet:93422	Orphanet:560	\N	"" []	Orphanet:560	"" []	221379	\N	\N	EFO	1	EFO	Type 11 collagen-related bone disorder	Marshall syndrome
Orphanet:98620	Orphanet:560	\N	"" []	Orphanet:560	"" []	221380	\N	\N	EFO	1	EFO	Syndromic myopia	Marshall syndrome
Orphanet:98638	Orphanet:560	\N	"" []	Orphanet:560	"" []	221381	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Marshall syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:560	"" []	577271	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Marshall syndrome
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:560	"" []	577272	\N	\N	EFO	2	EFO	Primary bone dysplasia	Marshall syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:560	"" []	577273	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Marshall syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:560	"" []	577274	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Marshall syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:560	"" []	577275	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Marshall syndrome
Orphanet:364803	Orphanet:93422	\N	"" []	Orphanet:560	"" []	577276	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Marshall syndrome
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:560	"" []	577277	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	Marshall syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:560	"" []	577278	\N	\N	EFO	2	EFO	Rare genetic eye disease	Marshall syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:560	"" []	1160582	\N	\N	EFO	3	EFO	Rare genetic eye disease	Marshall syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:560	"" []	1160583	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Marshall syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:560	"" []	1160584	\N	\N	EFO	3	EFO	Rare genetic bone disease	Marshall syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:560	"" []	1160585	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Marshall syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:560	"" []	1160586	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Marshall syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:560	"" []	1160587	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Marshall syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:560	"" []	1160588	\N	\N	EFO	3	EFO	Rare genetic skin disease	Marshall syndrome
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:560	"" []	1160589	\N	\N	EFO	3	EFO	Rare genetic bone disease	Marshall syndrome
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:560	"" []	1160590	\N	\N	EFO	3	EFO	Rare genetic eye disease	Marshall syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:560	"" []	2044007	\N	\N	EFO	4	EFO	genetic disorder	Marshall syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:560	"" []	2044008	\N	\N	EFO	4	EFO	eye disease	Marshall syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:560	"" []	3194192	\N	\N	EFO	5	EFO	genetic disorder	Marshall syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:560	"" []	2044010	\N	\N	EFO	4	EFO	genetic disorder	Marshall syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:560	"" []	2044011	\N	\N	EFO	4	EFO	bone disease	Marshall syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:560	"" []	2044012	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Marshall syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:560	"" []	2044013	\N	\N	EFO	4	EFO	genetic disorder	Marshall syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:560	"" []	2044014	\N	\N	EFO	4	EFO	skin disease	Marshall syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:560	"" []	4134163	\N	\N	EFO	6	EFO	disease	Marshall syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:560	"" []	3000388	\N	\N	EFO	5	EFO	disease	Marshall syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:560	"" []	3194191	\N	\N	EFO	5	EFO	skeletal system disease	Marshall syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:560	"" []	3194193	\N	\N	EFO	5	EFO	disease	Marshall syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:560	"" []	5060146	\N	\N	EFO	7	EFO	disposition	Marshall syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:560	"" []	4400336	\N	\N	EFO	6	EFO	disease	Marshall syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:560	"" []	5877573	\N	\N	EFO	8	EFO	material property	Marshall syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:560	"" []	6470809	\N	\N	EFO	9	EFO	experimental factor	Marshall syndrome
Orphanet:561	\N	\N	"" []	Orphanet:561	"" []	77502	\N	\N	EFO	0	EFO	Marshall-Smith syndrome	Marshall-Smith syndrome
Orphanet:330197	Orphanet:561	\N	"" []	Orphanet:561	"" []	221382	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Marshall-Smith syndrome
Orphanet:93460	Orphanet:561	\N	"" []	Orphanet:561	"" []	221383	\N	\N	EFO	1	EFO	Overgrowth syndrome	Marshall-Smith syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:561	"" []	577279	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Marshall-Smith syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:561	"" []	577280	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Marshall-Smith syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:561	"" []	1160593	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Marshall-Smith syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:561	"" []	1160594	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Marshall-Smith syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:561	"" []	2044017	\N	\N	EFO	4	EFO	genetic disorder	Marshall-Smith syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:561	"" []	3194195	\N	\N	EFO	5	EFO	disease	Marshall-Smith syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:561	"" []	4400338	\N	\N	EFO	6	EFO	disposition	Marshall-Smith syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:561	"" []	5417050	\N	\N	EFO	7	EFO	material property	Marshall-Smith syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:561	"" []	6152278	\N	\N	EFO	8	EFO	experimental factor	Marshall-Smith syndrome
Orphanet:562	\N	\N	"" []	Orphanet:562	"" []	77503	\N	\N	EFO	0	EFO	McCune-Albright syndrome	McCune-Albright syndrome
Orphanet:178040	Orphanet:562	\N	"" []	Orphanet:562	"" []	221384	\N	\N	EFO	1	EFO	Peripheral precocious puberty	McCune-Albright syndrome
Orphanet:183422	Orphanet:562	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:562	"" []	221385	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	McCune-Albright syndrome
Orphanet:183466	Orphanet:562	\N	"" []	Orphanet:562	"" []	221386	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	McCune-Albright syndrome
Orphanet:93450	Orphanet:562	\N	"" []	Orphanet:562	"" []	221387	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	McCune-Albright syndrome
Orphanet:202940	Orphanet:178040	\N	"" []	Orphanet:562	"" []	577281	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	McCune-Albright syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:562	"" []	577282	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	McCune-Albright syndrome
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:562	"" []	577283	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	McCune-Albright syndrome
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:562	"" []	577284	\N	\N	EFO	2	EFO	Primary bone dysplasia	McCune-Albright syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:562	"" []	1160595	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	McCune-Albright syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:562	"" []	1160596	\N	\N	EFO	3	EFO	genetic disorder	McCune-Albright syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:562	"" []	1160597	\N	\N	EFO	3	EFO	Rare genetic skin disease	McCune-Albright syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:562	"" []	1160598	\N	\N	EFO	3	EFO	Rare genetic bone disease	McCune-Albright syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:562	"" []	1160599	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	McCune-Albright syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:562	"" []	2044018	\N	\N	EFO	4	EFO	genetic disorder	McCune-Albright syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:562	"" []	2044019	\N	\N	EFO	4	EFO	reproductive system disease	McCune-Albright syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:562	"" []	4400341	\N	\N	EFO	6	EFO	disease	McCune-Albright syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:562	"" []	2044021	\N	\N	EFO	4	EFO	genetic disorder	McCune-Albright syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:562	"" []	2044022	\N	\N	EFO	4	EFO	skin disease	McCune-Albright syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:562	"" []	2044023	\N	\N	EFO	4	EFO	genetic disorder	McCune-Albright syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:562	"" []	2044024	\N	\N	EFO	4	EFO	bone disease	McCune-Albright syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:562	"" []	2044025	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	McCune-Albright syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:562	"" []	3194197	\N	\N	EFO	5	EFO	disease	McCune-Albright syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:562	"" []	5060147	\N	\N	EFO	7	EFO	disposition	McCune-Albright syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:562	"" []	3194199	\N	\N	EFO	5	EFO	disease	McCune-Albright syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:562	"" []	3194200	\N	\N	EFO	5	EFO	skeletal system disease	McCune-Albright syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:562	"" []	3194201	\N	\N	EFO	5	EFO	genetic disorder	McCune-Albright syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:562	"" []	5877574	\N	\N	EFO	8	EFO	material property	McCune-Albright syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:562	"" []	4400340	\N	\N	EFO	6	EFO	disease	McCune-Albright syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:562	"" []	6470810	\N	\N	EFO	9	EFO	experimental factor	McCune-Albright syndrome
Orphanet:56304	\N	\N	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	77504	\N	\N	EFO	0	EFO	Atelosteogenesis type II	Atelosteogenesis type II
Orphanet:102283	Orphanet:56304	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	221388	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Atelosteogenesis type II
Orphanet:138055	Orphanet:56304	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	221389	\N	\N	EFO	1	EFO	Pierre Robin syndrome associated with bone disease	Atelosteogenesis type II
Orphanet:183763	Orphanet:56304	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	221390	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Atelosteogenesis type II
Orphanet:93423	Orphanet:56304	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	221391	\N	\N	EFO	1	EFO	Sulfation-related bone disorder	Atelosteogenesis type II
Orphanet:93438	Orphanet:56304	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	221392	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Atelosteogenesis type II
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	577285	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Atelosteogenesis type II
Orphanet:363294	Orphanet:138055	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	577286	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Atelosteogenesis type II
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	577287	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Atelosteogenesis type II
Orphanet:364803	Orphanet:93423	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	577288	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Atelosteogenesis type II
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	577289	\N	\N	EFO	2	EFO	Primary bone dysplasia	Atelosteogenesis type II
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	1160600	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Atelosteogenesis type II
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	1160601	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Atelosteogenesis type II
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	1160602	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Atelosteogenesis type II
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	1160603	\N	\N	EFO	3	EFO	Rare genetic bone disease	Atelosteogenesis type II
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	1160604	\N	\N	EFO	3	EFO	Rare genetic bone disease	Atelosteogenesis type II
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	1160605	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Atelosteogenesis type II
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	5417053	\N	\N	EFO	7	EFO	genetic disorder	Atelosteogenesis type II
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	2044027	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Atelosteogenesis type II
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	2044028	\N	\N	EFO	4	EFO	genetic disorder	Atelosteogenesis type II
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	2044029	\N	\N	EFO	4	EFO	genetic disorder	Atelosteogenesis type II
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	2044030	\N	\N	EFO	4	EFO	bone disease	Atelosteogenesis type II
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	2044031	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Atelosteogenesis type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	5817787	\N	\N	EFO	8	EFO	disease	Atelosteogenesis type II
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	3194203	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Atelosteogenesis type II
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	3194204	\N	\N	EFO	5	EFO	skeletal system disease	Atelosteogenesis type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	6410269	\N	\N	EFO	9	EFO	disposition	Atelosteogenesis type II
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	4400343	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Atelosteogenesis type II
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	4400344	\N	\N	EFO	6	EFO	disease	Atelosteogenesis type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	6808101	\N	\N	EFO	10	EFO	material property	Atelosteogenesis type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:56304	"Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." []	7048773	\N	\N	EFO	11	EFO	experimental factor	Atelosteogenesis type II
Orphanet:56305	\N	\N	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	77505	\N	\N	EFO	0	EFO	Atelosteogenesis type III	Atelosteogenesis type III
Orphanet:102283	Orphanet:56305	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	221393	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Atelosteogenesis type III
Orphanet:138055	Orphanet:56305	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	221394	\N	\N	EFO	1	EFO	Pierre Robin syndrome associated with bone disease	Atelosteogenesis type III
Orphanet:183763	Orphanet:56305	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	221395	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Atelosteogenesis type III
Orphanet:93425	Orphanet:56305	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	221396	\N	\N	EFO	1	EFO	Filamin-related bone disorder	Atelosteogenesis type III
Orphanet:93441	Orphanet:56305	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	221397	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Atelosteogenesis type III
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	577290	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Atelosteogenesis type III
Orphanet:363294	Orphanet:138055	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	577291	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Atelosteogenesis type III
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	577292	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Atelosteogenesis type III
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	577293	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Atelosteogenesis type III
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	577294	\N	\N	EFO	2	EFO	Primary bone dysplasia	Atelosteogenesis type III
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	1160606	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Atelosteogenesis type III
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	1160607	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Atelosteogenesis type III
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	1160608	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Atelosteogenesis type III
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	1160609	\N	\N	EFO	3	EFO	Rare genetic bone disease	Atelosteogenesis type III
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	1160610	\N	\N	EFO	3	EFO	Rare genetic bone disease	Atelosteogenesis type III
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	1160611	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Atelosteogenesis type III
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	5417055	\N	\N	EFO	7	EFO	genetic disorder	Atelosteogenesis type III
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	2044033	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Atelosteogenesis type III
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	2044034	\N	\N	EFO	4	EFO	genetic disorder	Atelosteogenesis type III
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	2044035	\N	\N	EFO	4	EFO	genetic disorder	Atelosteogenesis type III
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	2044036	\N	\N	EFO	4	EFO	bone disease	Atelosteogenesis type III
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	2044037	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Atelosteogenesis type III
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	5817788	\N	\N	EFO	8	EFO	disease	Atelosteogenesis type III
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	3194207	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Atelosteogenesis type III
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	3194208	\N	\N	EFO	5	EFO	skeletal system disease	Atelosteogenesis type III
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	6410270	\N	\N	EFO	9	EFO	disposition	Atelosteogenesis type III
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	4400346	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Atelosteogenesis type III
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	4400347	\N	\N	EFO	6	EFO	disease	Atelosteogenesis type III
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	6808102	\N	\N	EFO	10	EFO	material property	Atelosteogenesis type III
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:56305	"Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." []	7048774	\N	\N	EFO	11	EFO	experimental factor	Atelosteogenesis type III
Orphanet:564	\N	\N	"" []	Orphanet:564	"" []	77506	\N	\N	EFO	0	EFO	Meckel syndrome	Meckel syndrome
EFO:0003900	Orphanet:564	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:564	"" []	221398	\N	\N	EFO	1	EFO	ciliopathy	Meckel syndrome
Orphanet:108973	Orphanet:564	\N	"" []	Orphanet:564	"" []	221399	\N	\N	EFO	1	EFO	Syndromic visceral malformation	Meckel syndrome
Orphanet:108987	Orphanet:564	\N	"" []	Orphanet:564	"" []	221400	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Meckel syndrome
Orphanet:139039	Orphanet:564	\N	"" []	Orphanet:564	"" []	221401	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Meckel syndrome
Orphanet:183533	Orphanet:564	\N	"" []	Orphanet:564	"" []	221402	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Meckel syndrome
Orphanet:269564	Orphanet:564	\N	"" []	Orphanet:564	"" []	221403	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Meckel syndrome
Orphanet:294959	Orphanet:564	\N	"" []	Orphanet:564	"" []	221404	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Meckel syndrome
Orphanet:93547	Orphanet:564	\N	"" []	Orphanet:564	"" []	221405	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Meckel syndrome
Orphanet:93587	Orphanet:564	\N	"" []	Orphanet:564	"" []	221406	\N	\N	EFO	1	EFO	Familial cystic renal disease	Meckel syndrome
Orphanet:98638	Orphanet:564	\N	"" []	Orphanet:564	"" []	221407	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Meckel syndrome
Orphanet:98645	Orphanet:564	\N	"" []	Orphanet:564	"" []	221408	\N	\N	EFO	1	EFO	Cerebral disease with cataract	Meckel syndrome
Orphanet:98655	Orphanet:564	\N	"" []	Orphanet:564	"" []	221409	\N	\N	EFO	1	EFO	Lens shape anomaly	Meckel syndrome
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:564	"" []	577295	\N	\N	EFO	2	EFO	genetic disorder	Meckel syndrome
Orphanet:183548	Orphanet:108973	\N	"" []	Orphanet:564	"" []	577296	\N	\N	EFO	2	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Meckel syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:564	"" []	577297	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Meckel syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:564	"" []	577298	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Meckel syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:564	"" []	577299	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Meckel syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:564	"" []	577300	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Meckel syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:564	"" []	577301	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Meckel syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:564	"" []	577302	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Meckel syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:564	"" []	577303	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Meckel syndrome
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:564	"" []	577304	\N	\N	EFO	2	EFO	kidney disease	Meckel syndrome
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:564	"" []	577305	\N	\N	EFO	2	EFO	Rare genetic renal disease	Meckel syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:564	"" []	577306	\N	\N	EFO	2	EFO	Rare genetic eye disease	Meckel syndrome
Orphanet:98643	Orphanet:98645	\N	"" []	Orphanet:564	"" []	577307	\N	\N	EFO	2	EFO	Systemic disease with cataract	Meckel syndrome
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:564	"" []	577308	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Meckel syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:564	"" []	5801874	\N	\N	EFO	8	EFO	disease	Meckel syndrome
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:564	"" []	1160613	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Meckel syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:564	"" []	1160614	\N	\N	EFO	3	EFO	Rare genetic eye disease	Meckel syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:564	"" []	1160615	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Meckel syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:564	"" []	1160616	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Meckel syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:564	"" []	4400349	\N	\N	EFO	6	EFO	genetic disorder	Meckel syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:564	"" []	1160618	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Meckel syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:564	"" []	1160619	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Meckel syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:564	"" []	1160620	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Meckel syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:564	"" []	1160621	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Meckel syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:564	"" []	1160622	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Meckel syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:564	"" []	1160623	\N	\N	EFO	3	EFO	Rare genetic renal disease	Meckel syndrome
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:564	"" []	1160624	\N	\N	EFO	3	EFO	disease	Meckel syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:564	"" []	2044048	\N	\N	EFO	4	EFO	genetic disorder	Meckel syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:564	"" []	5028460	\N	\N	EFO	7	EFO	genetic disorder	Meckel syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:564	"" []	5028461	\N	\N	EFO	7	EFO	eye disease	Meckel syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:564	"" []	1160628	\N	\N	EFO	3	EFO	Syndromic cataract	Meckel syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:564	"" []	4400351	\N	\N	EFO	6	EFO	Rare genetic eye disease	Meckel syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:564	"" []	6370828	\N	\N	EFO	9	EFO	disposition	Meckel syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:564	"" []	2044042	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Meckel syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:564	"" []	2044044	\N	\N	EFO	4	EFO	genetic disorder	Meckel syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:564	"" []	2044045	\N	\N	EFO	4	EFO	Rare genetic bone disease	Meckel syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:564	"" []	2044046	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Meckel syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:564	"" []	2044047	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Meckel syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:564	"" []	5801875	\N	\N	EFO	8	EFO	disease	Meckel syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:564	"" []	2044050	\N	\N	EFO	4	EFO	Rare cataract	Meckel syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:564	"" []	6762394	\N	\N	EFO	10	EFO	material property	Meckel syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:564	"" []	3194211	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Meckel syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:564	"" []	3194212	\N	\N	EFO	5	EFO	genetic disorder	Meckel syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:564	"" []	3194213	\N	\N	EFO	5	EFO	bone disease	Meckel syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:564	"" []	3194214	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Meckel syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:564	"" []	3194216	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Meckel syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:564	"" []	7015707	\N	\N	EFO	11	EFO	experimental factor	Meckel syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:564	"" []	4400350	\N	\N	EFO	6	EFO	skeletal system disease	Meckel syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:564	"" []	5417056	\N	\N	EFO	7	EFO	disease	Meckel syndrome
Orphanet:565	\N	\N	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	77507	\N	\N	EFO	0	EFO	Menkes disease	Menkes disease
Orphanet:182076	Orphanet:565	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	221410	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Menkes disease
Orphanet:309839	Orphanet:565	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	221411	\N	\N	EFO	1	EFO	Disorder of copper metabolism	Menkes disease
Orphanet:68385	Orphanet:565	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	221412	\N	\N	EFO	1	EFO	Neurometabolic disease	Menkes disease
Orphanet:79367	Orphanet:565	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	221413	\N	\N	EFO	1	EFO	Syndromic hair shaft abnormality	Menkes disease
Orphanet:98599	Orphanet:565	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	221414	\N	\N	EFO	1	EFO	Eyebrow/eyelashes structural anomaly	Menkes disease
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	577309	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Menkes disease
Orphanet:309836	Orphanet:309839	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	577310	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Menkes disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	577311	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Menkes disease
Orphanet:183450	Orphanet:79367	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	577312	\N	\N	EFO	2	EFO	Genetic hair anomaly	Menkes disease
Orphanet:98594	Orphanet:98599	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	577313	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Menkes disease
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	1160630	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Menkes disease
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	1160631	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Menkes disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	4400352	\N	\N	EFO	6	EFO	genetic disorder	Menkes disease
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	1160633	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Menkes disease
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	1160634	\N	\N	EFO	3	EFO	Rare palpebral disease	Menkes disease
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	2044051	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Menkes disease
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	2044052	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Menkes disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	5028462	\N	\N	EFO	7	EFO	disease	Menkes disease
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	2044054	\N	\N	EFO	4	EFO	Rare genetic skin disease	Menkes disease
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	2044055	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Menkes disease
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	3194217	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Menkes disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	3194218	\N	\N	EFO	5	EFO	genetic disorder	Menkes disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	3194219	\N	\N	EFO	5	EFO	metabolic disease	Menkes disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	5817790	\N	\N	EFO	8	EFO	disposition	Menkes disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	3194221	\N	\N	EFO	5	EFO	genetic disorder	Menkes disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	3194222	\N	\N	EFO	5	EFO	skin disease	Menkes disease
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	3194223	\N	\N	EFO	5	EFO	Rare genetic eye disease	Menkes disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	4400354	\N	\N	EFO	6	EFO	disease	Menkes disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	6410272	\N	\N	EFO	9	EFO	material property	Menkes disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	4400356	\N	\N	EFO	6	EFO	disease	Menkes disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	4400357	\N	\N	EFO	6	EFO	genetic disorder	Menkes disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	4400358	\N	\N	EFO	6	EFO	eye disease	Menkes disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	6808103	\N	\N	EFO	10	EFO	experimental factor	Menkes disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:565	"Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." []	5417058	\N	\N	EFO	7	EFO	disease	Menkes disease
Orphanet:566	\N	\N	"" []	Orphanet:566	"" []	77508	\N	\N	EFO	0	EFO	Congenital microcoria	Congenital microcoria
Orphanet:98634	Orphanet:566	\N	"" []	Orphanet:566	"" []	221415	\N	\N	EFO	1	EFO	Iridogoniodysgenesis	Congenital microcoria
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:566	"" []	577314	\N	\N	EFO	2	EFO	Glaucoma associated with neural crest cell migration anomaly	Congenital microcoria
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:566	"" []	1160635	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Congenital microcoria
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:566	"" []	2044056	\N	\N	EFO	4	EFO	Hereditary glaucoma	Congenital microcoria
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:566	"" []	3194224	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Congenital microcoria
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:566	"" []	4400359	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Congenital microcoria
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:566	"" []	5417059	\N	\N	EFO	7	EFO	Rare genetic eye disease	Congenital microcoria
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:566	"" []	5417060	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital microcoria
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:566	"" []	6152281	\N	\N	EFO	8	EFO	genetic disorder	Congenital microcoria
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:566	"" []	6152282	\N	\N	EFO	8	EFO	eye disease	Congenital microcoria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:566	"" []	6152283	\N	\N	EFO	8	EFO	genetic disorder	Congenital microcoria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:566	"" []	6634005	\N	\N	EFO	9	EFO	disease	Congenital microcoria
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:566	"" []	6634006	\N	\N	EFO	9	EFO	disease	Congenital microcoria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:566	"" []	6926210	\N	\N	EFO	10	EFO	disposition	Congenital microcoria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:566	"" []	7099305	\N	\N	EFO	11	EFO	material property	Congenital microcoria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:566	"" []	7208356	\N	\N	EFO	12	EFO	experimental factor	Congenital microcoria
Orphanet:567	\N	\N	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	77509	\N	\N	EFO	0	EFO	22q11.2 deletion syndrome	22q11.2 deletion syndrome
Orphanet:117573	Orphanet:567	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	221416	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	22q11.2 deletion syndrome
Orphanet:138047	Orphanet:567	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	221417	\N	\N	EFO	1	EFO	Pierre Robin syndrome associated with a chromosomal anomaly	22q11.2 deletion syndrome
Orphanet:156532	Orphanet:567	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	221418	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	22q11.2 deletion syndrome
Orphanet:181402	Orphanet:567	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	221419	\N	\N	EFO	1	EFO	Syndrome with hypoparathyroidism	22q11.2 deletion syndrome
Orphanet:262182	Orphanet:567	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	221420	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 22	22q11.2 deletion syndrome
Orphanet:330197	Orphanet:567	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	221421	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	22q11.2 deletion syndrome
Orphanet:331220	Orphanet:567	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	221422	\N	\N	EFO	1	EFO	Immunodeficiency due to absence of thymus	22q11.2 deletion syndrome
Orphanet:90642	Orphanet:567	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	221423	\N	\N	EFO	1	EFO	Syndromic genetic deafness	22q11.2 deletion syndrome
Orphanet:93547	Orphanet:567	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	221424	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	22q11.2 deletion syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	577315	\N	\N	EFO	2	EFO	Anorectal malformation	22q11.2 deletion syndrome
Orphanet:363294	Orphanet:138047	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	577316	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	22q11.2 deletion syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	577317	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	22q11.2 deletion syndrome
Orphanet:208593	Orphanet:181402	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	577318	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	22q11.2 deletion syndrome
Orphanet:98142	Orphanet:262182	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	577319	\N	\N	EFO	2	EFO	Partial autosomal monosomy	22q11.2 deletion syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	577320	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	22q11.2 deletion syndrome
Orphanet:331217	Orphanet:331220	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	577321	\N	\N	EFO	2	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	22q11.2 deletion syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	577322	\N	\N	EFO	2	EFO	Rare genetic deafness	22q11.2 deletion syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	577323	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	22q11.2 deletion syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160636	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	22q11.2 deletion syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160637	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	22q11.2 deletion syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160638	\N	\N	EFO	3	EFO	genetic disorder	22q11.2 deletion syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160639	\N	\N	EFO	3	EFO	heart disease	22q11.2 deletion syndrome
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160640	\N	\N	EFO	3	EFO	parathyroid disease	22q11.2 deletion syndrome
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160641	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	22q11.2 deletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160642	\N	\N	EFO	3	EFO	Autosomal monosomy	22q11.2 deletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160643	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	22q11.2 deletion syndrome
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160644	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	22q11.2 deletion syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160645	\N	\N	EFO	3	EFO	genetic disorder	22q11.2 deletion syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160646	\N	\N	EFO	3	EFO	auditory system disease	22q11.2 deletion syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160647	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	22q11.2 deletion syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	1160648	\N	\N	EFO	3	EFO	Rare genetic renal disease	22q11.2 deletion syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	2044057	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	22q11.2 deletion syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	2044058	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	22q11.2 deletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	5817792	\N	\N	EFO	8	EFO	disease	22q11.2 deletion syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	2044060	\N	\N	EFO	4	EFO	cardiovascular disease	22q11.2 deletion syndrome
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	2044061	\N	\N	EFO	4	EFO	calcium metabolic disease	22q11.2 deletion syndrome
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	2044062	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	22q11.2 deletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	2044063	\N	\N	EFO	4	EFO	Autosomal anomaly	22q11.2 deletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	5417061	\N	\N	EFO	7	EFO	genetic disorder	22q11.2 deletion syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	2044065	\N	\N	EFO	4	EFO	Primary immunodeficiency	22q11.2 deletion syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	2044066	\N	\N	EFO	4	EFO	sensory system disease	22q11.2 deletion syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	2044067	\N	\N	EFO	4	EFO	genetic disorder	22q11.2 deletion syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	3194226	\N	\N	EFO	5	EFO	Genetic head and neck malformation	22q11.2 deletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	6378960	\N	\N	EFO	9	EFO	disposition	22q11.2 deletion syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	3194228	\N	\N	EFO	5	EFO	disease	22q11.2 deletion syndrome
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	3194229	\N	\N	EFO	5	EFO	metabolic disease	22q11.2 deletion syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	3194230	\N	\N	EFO	5	EFO	genetic disorder	22q11.2 deletion syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	3194231	\N	\N	EFO	5	EFO	endocrine system disease	22q11.2 deletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	3194232	\N	\N	EFO	5	EFO	Chromosomal anomaly	22q11.2 deletion syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	3194234	\N	\N	EFO	5	EFO	Rare genetic immune disease	22q11.2 deletion syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	3194235	\N	\N	EFO	5	EFO	nervous system disease	22q11.2 deletion syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	4400360	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	22q11.2 deletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	6778789	\N	\N	EFO	10	EFO	material property	22q11.2 deletion syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	4400362	\N	\N	EFO	6	EFO	disease	22q11.2 deletion syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	4400363	\N	\N	EFO	6	EFO	disease	22q11.2 deletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	4400364	\N	\N	EFO	6	EFO	genetic disorder	22q11.2 deletion syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	4400365	\N	\N	EFO	6	EFO	genetic disorder	22q11.2 deletion syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	4400366	\N	\N	EFO	6	EFO	immune system disease	22q11.2 deletion syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	4400367	\N	\N	EFO	6	EFO	disease	22q11.2 deletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	7029983	\N	\N	EFO	11	EFO	experimental factor	22q11.2 deletion syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:567	"22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." []	5417064	\N	\N	EFO	7	EFO	disease	22q11.2 deletion syndrome
Orphanet:568	\N	\N	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	77510	\N	\N	EFO	0	EFO	Microphthalmia, Lenz type	Microphthalmia, Lenz type
Orphanet:108985	Orphanet:568	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	221425	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Microphthalmia, Lenz type
Orphanet:202948	Orphanet:568	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	221426	\N	\N	EFO	1	EFO	Syndromic microphthalmia	Microphthalmia, Lenz type
Orphanet:330197	Orphanet:568	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	221427	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Microphthalmia, Lenz type
Orphanet:98464	Orphanet:568	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	221428	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Microphthalmia, Lenz type
Orphanet:98655	Orphanet:568	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	221429	\N	\N	EFO	1	EFO	Lens shape anomaly	Microphthalmia, Lenz type
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	577324	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Microphthalmia, Lenz type
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	577325	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Microphthalmia, Lenz type
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	577326	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microphthalmia, Lenz type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	577327	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Microphthalmia, Lenz type
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	577328	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Microphthalmia, Lenz type
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	3194238	\N	\N	EFO	5	EFO	Rare genetic eye disease	Microphthalmia, Lenz type
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	3194239	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia, Lenz type
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	1160651	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Microphthalmia, Lenz type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	1160652	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia, Lenz type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	1160653	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Microphthalmia, Lenz type
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	1160654	\N	\N	EFO	3	EFO	Rare genetic eye disease	Microphthalmia, Lenz type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	4066965	\N	\N	EFO	6	EFO	genetic disorder	Microphthalmia, Lenz type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	4066966	\N	\N	EFO	6	EFO	eye disease	Microphthalmia, Lenz type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	4066967	\N	\N	EFO	6	EFO	genetic disorder	Microphthalmia, Lenz type
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	2044071	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Microphthalmia, Lenz type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	2044072	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microphthalmia, Lenz type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	5060151	\N	\N	EFO	7	EFO	disease	Microphthalmia, Lenz type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	5060152	\N	\N	EFO	7	EFO	disease	Microphthalmia, Lenz type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	3194240	\N	\N	EFO	5	EFO	genetic disorder	Microphthalmia, Lenz type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	5877578	\N	\N	EFO	8	EFO	disposition	Microphthalmia, Lenz type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	6470813	\N	\N	EFO	9	EFO	material property	Microphthalmia, Lenz type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:568	"Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." []	6848722	\N	\N	EFO	10	EFO	experimental factor	Microphthalmia, Lenz type
Orphanet:569	\N	\N	"" []	Orphanet:569	"" []	77511	\N	\N	EFO	0	EFO	Familial or sporadic hemiplegic migraine	Familial or sporadic hemiplegic migraine
Orphanet:166311	Orphanet:569	\N	"" []	Orphanet:569	"" []	221430	\N	\N	EFO	1	EFO	Benign partial infantile seizures	Familial or sporadic hemiplegic migraine
Orphanet:183503	Orphanet:569	\N	"" []	Orphanet:569	"" []	221431	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Familial or sporadic hemiplegic migraine
Orphanet:183509	Orphanet:569	\N	"" []	Orphanet:569	"" []	221432	\N	\N	EFO	1	EFO	Rare genetic headache	Familial or sporadic hemiplegic migraine
Orphanet:98258	Orphanet:166311	\N	"" []	Orphanet:569	"" []	577329	\N	\N	EFO	2	EFO	Infantile epilepsy syndrome	Familial or sporadic hemiplegic migraine
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:569	"" []	577330	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Familial or sporadic hemiplegic migraine
EFO:0000524	Orphanet:183509	\N	"The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed.  E.g Acute Lymphocytic Leukemia" []	Orphanet:569	"" []	577331	\N	\N	EFO	2	EFO	head disease	Familial or sporadic hemiplegic migraine
Orphanet:71859	Orphanet:183509	\N	"" []	Orphanet:569	"" []	577332	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Familial or sporadic hemiplegic migraine
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:569	"" []	1160655	\N	\N	EFO	3	EFO	Epilepsy syndrome	Familial or sporadic hemiplegic migraine
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:569	"" []	4400370	\N	\N	EFO	6	EFO	genetic disorder	Familial or sporadic hemiplegic migraine
EFO:0000408	EFO:0000524	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:569	"" []	1160657	\N	\N	EFO	3	EFO	disease	Familial or sporadic hemiplegic migraine
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:569	"" []	2044073	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Familial or sporadic hemiplegic migraine
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:569	"" []	5028463	\N	\N	EFO	7	EFO	disease	Familial or sporadic hemiplegic migraine
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:569	"" []	5817793	\N	\N	EFO	8	EFO	disposition	Familial or sporadic hemiplegic migraine
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:569	"" []	3194241	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Familial or sporadic hemiplegic migraine
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:569	"" []	6378961	\N	\N	EFO	9	EFO	material property	Familial or sporadic hemiplegic migraine
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:569	"" []	6778790	\N	\N	EFO	10	EFO	experimental factor	Familial or sporadic hemiplegic migraine
Orphanet:57	\N	\N	"" []	Orphanet:57	"" []	77512	\N	\N	EFO	0	EFO	Glycogen storage disease due to aldolase A deficiency	Glycogen storage disease due to aldolase A deficiency
Orphanet:79201	Orphanet:57	\N	"" []	Orphanet:57	"" []	221433	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to aldolase A deficiency
Orphanet:98372	Orphanet:57	\N	"" []	Orphanet:57	"" []	221434	\N	\N	EFO	1	EFO	Hemolytic anemia due to a disorder of glycolytic enzymes	Glycogen storage disease due to aldolase A deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:57	"" []	577333	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to aldolase A deficiency
Orphanet:98369	Orphanet:98372	\N	"" []	Orphanet:57	"" []	577334	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Glycogen storage disease due to aldolase A deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:57	"" []	1160658	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to aldolase A deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:57	"" []	1160659	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Glycogen storage disease due to aldolase A deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:57	"" []	2044076	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to aldolase A deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:57	"" []	2044077	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to aldolase A deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:57	"" []	2044078	\N	\N	EFO	4	EFO	Rare constitutional anemia	Glycogen storage disease due to aldolase A deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:57	"" []	5417067	\N	\N	EFO	7	EFO	disease	Glycogen storage disease due to aldolase A deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:57	"" []	3194245	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to aldolase A deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:57	"" []	3194246	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Glycogen storage disease due to aldolase A deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:57	"" []	5877579	\N	\N	EFO	8	EFO	disposition	Glycogen storage disease due to aldolase A deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:57	"" []	4400373	\N	\N	EFO	6	EFO	genetic disorder	Glycogen storage disease due to aldolase A deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:57	"" []	4400374	\N	\N	EFO	6	EFO	hematological system disease	Glycogen storage disease due to aldolase A deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:57	"" []	6470814	\N	\N	EFO	9	EFO	material property	Glycogen storage disease due to aldolase A deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:57	"" []	5417068	\N	\N	EFO	7	EFO	disease	Glycogen storage disease due to aldolase A deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:57	"" []	6848723	\N	\N	EFO	10	EFO	experimental factor	Glycogen storage disease due to aldolase A deficiency
Orphanet:570	\N	\N	"" []	Orphanet:570	"" []	77513	\N	\N	EFO	0	EFO	Moebius syndrome	Moebius syndrome
Orphanet:100932	Orphanet:570	\N	"" []	Orphanet:570	"" []	221435	\N	\N	EFO	1	EFO	Nuclear oculomotor paralysis	Moebius syndrome
Orphanet:156224	Orphanet:570	\N	"" []	Orphanet:570	"" []	221436	\N	\N	EFO	1	EFO	Paralytic facial malformation	Moebius syndrome
Orphanet:183576	Orphanet:570	\N	"" []	Orphanet:570	"" []	221437	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Moebius syndrome
Orphanet:330197	Orphanet:570	\N	"" []	Orphanet:570	"" []	221438	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Moebius syndrome
Orphanet:98518	Orphanet:570	\N	"" []	Orphanet:570	"" []	221439	\N	\N	EFO	1	EFO	Cranial nerve and nuclear aplasia	Moebius syndrome
Orphanet:98683	Orphanet:570	\N	"" []	Orphanet:570	"" []	221440	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Moebius syndrome
Orphanet:98685	Orphanet:100932	\N	"" []	Orphanet:570	"" []	577335	\N	\N	EFO	2	EFO	Oculomotor palsy	Moebius syndrome
Orphanet:183583	Orphanet:156224	\N	"" []	Orphanet:570	"" []	577336	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Moebius syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:570	"" []	577337	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Moebius syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:570	"" []	577338	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Moebius syndrome
Orphanet:269550	Orphanet:98518	\N	"" []	Orphanet:570	"" []	577339	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Moebius syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:570	"" []	577340	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Moebius syndrome
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:570	"" []	1160660	\N	\N	EFO	3	EFO	palsy	Moebius syndrome
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:570	"" []	1160661	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Moebius syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:570	"" []	1160662	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Moebius syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:570	"" []	3194251	\N	\N	EFO	5	EFO	genetic disorder	Moebius syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:570	"" []	1160664	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Moebius syndrome
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:570	"" []	1160665	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Moebius syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:570	"" []	1160666	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Moebius syndrome
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:570	"" []	2044079	\N	\N	EFO	4	EFO	nervous system disease	Moebius syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:570	"" []	2044080	\N	\N	EFO	4	EFO	Rare genetic eye disease	Moebius syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:570	"" []	4066968	\N	\N	EFO	6	EFO	disease	Moebius syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:570	"" []	2044083	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Moebius syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:570	"" []	2044084	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Moebius syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:570	"" []	3194247	\N	\N	EFO	5	EFO	disease	Moebius syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:570	"" []	3194248	\N	\N	EFO	5	EFO	genetic disorder	Moebius syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:570	"" []	3194249	\N	\N	EFO	5	EFO	eye disease	Moebius syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:570	"" []	5060153	\N	\N	EFO	7	EFO	disposition	Moebius syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:570	"" []	3194252	\N	\N	EFO	5	EFO	genetic disorder	Moebius syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:570	"" []	4400375	\N	\N	EFO	6	EFO	disease	Moebius syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:570	"" []	5877580	\N	\N	EFO	8	EFO	material property	Moebius syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:570	"" []	6470815	\N	\N	EFO	9	EFO	experimental factor	Moebius syndrome
Orphanet:572	\N	\N	"" []	Orphanet:572	"" []	77514	\N	\N	EFO	0	EFO	Immunodeficiency by defective expression of HLA class 2	Immunodeficiency by defective expression of HLA class 2
Orphanet:101972	Orphanet:572	\N	"" []	Orphanet:572	"" []	221441	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Immunodeficiency by defective expression of HLA class 2
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:572	"" []	577341	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immunodeficiency by defective expression of HLA class 2
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:572	"" []	1160667	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency by defective expression of HLA class 2
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:572	"" []	2044085	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency by defective expression of HLA class 2
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:572	"" []	3194253	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency by defective expression of HLA class 2
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:572	"" []	3194254	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency by defective expression of HLA class 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:572	"" []	4400377	\N	\N	EFO	6	EFO	disease	Immunodeficiency by defective expression of HLA class 2
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:572	"" []	4400378	\N	\N	EFO	6	EFO	disease	Immunodeficiency by defective expression of HLA class 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:572	"" []	5417070	\N	\N	EFO	7	EFO	disposition	Immunodeficiency by defective expression of HLA class 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:572	"" []	6152286	\N	\N	EFO	8	EFO	material property	Immunodeficiency by defective expression of HLA class 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:572	"" []	6634007	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency by defective expression of HLA class 2
Orphanet:573	\N	\N	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	Orphanet:573	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	77515	\N	\N	EFO	0	EFO	Monilethrix	Monilethrix
Orphanet:79366	Orphanet:573	\N	"" []	Orphanet:573	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	221442	\N	\N	EFO	1	EFO	Isolated hair shaft abnormality	Monilethrix
Orphanet:183450	Orphanet:79366	\N	"" []	Orphanet:573	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	577342	\N	\N	EFO	2	EFO	Genetic hair anomaly	Monilethrix
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:573	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	1160668	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Monilethrix
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:573	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	2044086	\N	\N	EFO	4	EFO	Rare genetic skin disease	Monilethrix
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:573	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	3194255	\N	\N	EFO	5	EFO	genetic disorder	Monilethrix
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:573	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	3194256	\N	\N	EFO	5	EFO	skin disease	Monilethrix
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:573	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	4400379	\N	\N	EFO	6	EFO	disease	Monilethrix
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:573	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	4400380	\N	\N	EFO	6	EFO	disease	Monilethrix
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:573	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	5417071	\N	\N	EFO	7	EFO	disposition	Monilethrix
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:573	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	6152287	\N	\N	EFO	8	EFO	material property	Monilethrix
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:573	"Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." []	6634008	\N	\N	EFO	9	EFO	experimental factor	Monilethrix
Orphanet:574	\N	\N	"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." []	Orphanet:574	"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." []	77516	\N	\N	EFO	0	EFO	Monosomy 21	Monosomy 21
Orphanet:98141	Orphanet:574	\N	"" []	Orphanet:574	"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." []	221443	\N	\N	EFO	1	EFO	Total autosomal monosomy	Monosomy 21
Orphanet:102020	Orphanet:98141	\N	"" []	Orphanet:574	"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." []	577343	\N	\N	EFO	2	EFO	Autosomal monosomy	Monosomy 21
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:574	"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." []	1160669	\N	\N	EFO	3	EFO	Autosomal anomaly	Monosomy 21
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:574	"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." []	2044087	\N	\N	EFO	4	EFO	Chromosomal anomaly	Monosomy 21
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:574	"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." []	3194257	\N	\N	EFO	5	EFO	genetic disorder	Monosomy 21
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:574	"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." []	4400381	\N	\N	EFO	6	EFO	disease	Monosomy 21
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:574	"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." []	5417072	\N	\N	EFO	7	EFO	disposition	Monosomy 21
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:574	"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." []	6152288	\N	\N	EFO	8	EFO	material property	Monosomy 21
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:574	"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." []	6634009	\N	\N	EFO	9	EFO	experimental factor	Monosomy 21
Orphanet:575	\N	\N	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	77517	\N	\N	EFO	0	EFO	Muckle-Wells syndrome	Muckle-Wells syndrome
Orphanet:208650	Orphanet:575	\N	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	221444	\N	\N	EFO	1	EFO	Cryopyrin-associated periodic syndrome	Muckle-Wells syndrome
Orphanet:290839	Orphanet:208650	\N	"" []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	577344	\N	\N	EFO	2	EFO	Autoinflammatory syndrome with immune deficiency	Muckle-Wells syndrome
Orphanet:324924	Orphanet:208650	\N	"" []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	577345	\N	\N	EFO	2	EFO	Hereditary periodic fever syndrome	Muckle-Wells syndrome
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	1160670	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Muckle-Wells syndrome
Orphanet:271870	Orphanet:324924	\N	"" []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	1160671	\N	\N	EFO	3	EFO	Rare genetic systemic or rheumatologic disease	Muckle-Wells syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	2044088	\N	\N	EFO	4	EFO	Primary immunodeficiency	Muckle-Wells syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	2044089	\N	\N	EFO	4	EFO	genetic disorder	Muckle-Wells syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	3194258	\N	\N	EFO	5	EFO	Rare genetic immune disease	Muckle-Wells syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	5417073	\N	\N	EFO	7	EFO	disease	Muckle-Wells syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	4400382	\N	\N	EFO	6	EFO	genetic disorder	Muckle-Wells syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	4400383	\N	\N	EFO	6	EFO	immune system disease	Muckle-Wells syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	5877581	\N	\N	EFO	8	EFO	disposition	Muckle-Wells syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	5417074	\N	\N	EFO	7	EFO	disease	Muckle-Wells syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	6470816	\N	\N	EFO	9	EFO	material property	Muckle-Wells syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:575	"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." []	6848724	\N	\N	EFO	10	EFO	experimental factor	Muckle-Wells syndrome
Orphanet:576	\N	\N	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	77518	\N	\N	EFO	0	EFO	Mucolipidosis type 2	Mucolipidosis type 2
Orphanet:79212	Orphanet:576	\N	"" []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	221445	\N	\N	EFO	1	EFO	Mucolipidosis	Mucolipidosis type 2
Orphanet:93448	Orphanet:576	\N	"" []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	221446	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Mucolipidosis type 2
Orphanet:139009	Orphanet:79212	\N	"" []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	577346	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Mucolipidosis type 2
Orphanet:309279	Orphanet:79212	\N	"" []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	577347	\N	\N	EFO	2	EFO	Glycoproteinosis	Mucolipidosis type 2
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	577348	\N	\N	EFO	2	EFO	Rare genetic bone disease	Mucolipidosis type 2
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	1160672	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mucolipidosis type 2
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	1160673	\N	\N	EFO	3	EFO	Lysosomal disease	Mucolipidosis type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	1160674	\N	\N	EFO	3	EFO	genetic disorder	Mucolipidosis type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	1160675	\N	\N	EFO	3	EFO	bone disease	Mucolipidosis type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	2044090	\N	\N	EFO	4	EFO	genetic disorder	Mucolipidosis type 2
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	2044091	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mucolipidosis type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	4400385	\N	\N	EFO	6	EFO	disease	Mucolipidosis type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	2044093	\N	\N	EFO	4	EFO	skeletal system disease	Mucolipidosis type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	3194261	\N	\N	EFO	5	EFO	genetic disorder	Mucolipidosis type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	3194262	\N	\N	EFO	5	EFO	metabolic disease	Mucolipidosis type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	5060154	\N	\N	EFO	7	EFO	disposition	Mucolipidosis type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	3194264	\N	\N	EFO	5	EFO	disease	Mucolipidosis type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	4400386	\N	\N	EFO	6	EFO	disease	Mucolipidosis type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	5877582	\N	\N	EFO	8	EFO	material property	Mucolipidosis type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:576	"Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." []	6470817	\N	\N	EFO	9	EFO	experimental factor	Mucolipidosis type 2
Orphanet:577	\N	\N	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	77519	\N	\N	EFO	0	EFO	Mucolipidosis type 3	Mucolipidosis type 3
Orphanet:79212	Orphanet:577	\N	"" []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	221447	\N	\N	EFO	1	EFO	Mucolipidosis	Mucolipidosis type 3
Orphanet:93448	Orphanet:577	\N	"" []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	221448	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Mucolipidosis type 3
Orphanet:139009	Orphanet:79212	\N	"" []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	577349	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Mucolipidosis type 3
Orphanet:309279	Orphanet:79212	\N	"" []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	577350	\N	\N	EFO	2	EFO	Glycoproteinosis	Mucolipidosis type 3
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	577351	\N	\N	EFO	2	EFO	Rare genetic bone disease	Mucolipidosis type 3
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	1160676	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mucolipidosis type 3
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	1160677	\N	\N	EFO	3	EFO	Lysosomal disease	Mucolipidosis type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	1160678	\N	\N	EFO	3	EFO	genetic disorder	Mucolipidosis type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	1160679	\N	\N	EFO	3	EFO	bone disease	Mucolipidosis type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	2044094	\N	\N	EFO	4	EFO	genetic disorder	Mucolipidosis type 3
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	2044095	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mucolipidosis type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	4400388	\N	\N	EFO	6	EFO	disease	Mucolipidosis type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	2044097	\N	\N	EFO	4	EFO	skeletal system disease	Mucolipidosis type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	3194266	\N	\N	EFO	5	EFO	genetic disorder	Mucolipidosis type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	3194267	\N	\N	EFO	5	EFO	metabolic disease	Mucolipidosis type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	5060155	\N	\N	EFO	7	EFO	disposition	Mucolipidosis type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	3194269	\N	\N	EFO	5	EFO	disease	Mucolipidosis type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	4400389	\N	\N	EFO	6	EFO	disease	Mucolipidosis type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	5877583	\N	\N	EFO	8	EFO	material property	Mucolipidosis type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:577	"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." []	6470818	\N	\N	EFO	9	EFO	experimental factor	Mucolipidosis type 3
Orphanet:57782	\N	\N	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	77520	\N	\N	EFO	0	EFO	Mazabraud syndrome	Mazabraud syndrome
Orphanet:93450	Orphanet:57782	\N	"" []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	221449	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Mazabraud syndrome
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	577352	\N	\N	EFO	2	EFO	Primary bone dysplasia	Mazabraud syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	1160680	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mazabraud syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	1160681	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Mazabraud syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	2044098	\N	\N	EFO	4	EFO	genetic disorder	Mazabraud syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	2044099	\N	\N	EFO	4	EFO	bone disease	Mazabraud syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	2044100	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mazabraud syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	4400393	\N	\N	EFO	6	EFO	disease	Mazabraud syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	3194271	\N	\N	EFO	5	EFO	skeletal system disease	Mazabraud syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	3194272	\N	\N	EFO	5	EFO	genetic disorder	Mazabraud syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	5183082	\N	\N	EFO	7	EFO	disposition	Mazabraud syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	4400392	\N	\N	EFO	6	EFO	disease	Mazabraud syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	5998438	\N	\N	EFO	8	EFO	material property	Mazabraud syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:57782	"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occurs in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." []	6551591	\N	\N	EFO	9	EFO	experimental factor	Mazabraud syndrome
Orphanet:578	\N	\N	"" []	Orphanet:578	"" []	77521	\N	\N	EFO	0	EFO	Mucolipidosis type 4	Mucolipidosis type 4
Orphanet:68366	Orphanet:578	\N	"" []	Orphanet:578	"" []	221450	\N	\N	EFO	1	EFO	Lysosomal disease	Mucolipidosis type 4
Orphanet:98666	Orphanet:578	\N	"" []	Orphanet:578	"" []	221451	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Mucolipidosis type 4
Orphanet:98711	Orphanet:578	\N	"" []	Orphanet:578	"" []	221452	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Mucolipidosis type 4
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:578	"" []	577353	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Mucolipidosis type 4
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:578	"" []	577354	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Mucolipidosis type 4
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:578	"" []	577355	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Mucolipidosis type 4
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:578	"" []	1160682	\N	\N	EFO	3	EFO	genetic disorder	Mucolipidosis type 4
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:578	"" []	1160683	\N	\N	EFO	3	EFO	metabolic disease	Mucolipidosis type 4
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:578	"" []	1160684	\N	\N	EFO	3	EFO	Retinal dystrophy	Mucolipidosis type 4
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:578	"" []	1160685	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mucolipidosis type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:578	"" []	5060156	\N	\N	EFO	7	EFO	disease	Mucolipidosis type 4
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:578	"" []	2044102	\N	\N	EFO	4	EFO	disease	Mucolipidosis type 4
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:578	"" []	2044103	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Mucolipidosis type 4
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:578	"" []	4400395	\N	\N	EFO	6	EFO	genetic disorder	Mucolipidosis type 4
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:578	"" []	4400396	\N	\N	EFO	6	EFO	eye disease	Mucolipidosis type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:578	"" []	5817794	\N	\N	EFO	8	EFO	disposition	Mucolipidosis type 4
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:578	"" []	3194274	\N	\N	EFO	5	EFO	Rare genetic eye disease	Mucolipidosis type 4
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:578	"" []	5060157	\N	\N	EFO	7	EFO	disease	Mucolipidosis type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:578	"" []	6410274	\N	\N	EFO	9	EFO	material property	Mucolipidosis type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:578	"" []	6808105	\N	\N	EFO	10	EFO	experimental factor	Mucolipidosis type 4
Orphanet:579	\N	\N	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	77522	\N	\N	EFO	0	EFO	Mucopolysaccharidosis type 1	Mucopolysaccharidosis type 1
Orphanet:68385	Orphanet:579	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	221453	\N	\N	EFO	1	EFO	Neurometabolic disease	Mucopolysaccharidosis type 1
Orphanet:79213	Orphanet:579	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	221454	\N	\N	EFO	1	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis type 1
Orphanet:93448	Orphanet:579	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	221455	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Mucopolysaccharidosis type 1
Orphanet:98596	Orphanet:579	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	221456	\N	\N	EFO	1	EFO	Eyebrow hypertrophy	Mucopolysaccharidosis type 1
Orphanet:98711	Orphanet:579	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	221457	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Mucopolysaccharidosis type 1
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	577356	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Mucopolysaccharidosis type 1
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	577357	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis type 1
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	577358	\N	\N	EFO	2	EFO	Lysosomal disease	Mucopolysaccharidosis type 1
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	577359	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis type 1
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	577360	\N	\N	EFO	2	EFO	Rare genetic bone disease	Mucopolysaccharidosis type 1
Orphanet:98594	Orphanet:98596	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	577361	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Mucopolysaccharidosis type 1
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	577362	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Mucopolysaccharidosis type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	1160686	\N	\N	EFO	3	EFO	genetic disorder	Mucopolysaccharidosis type 1
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	1160687	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis type 1
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	1160688	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Mucopolysaccharidosis type 1
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	1160689	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	1160690	\N	\N	EFO	3	EFO	genetic disorder	Mucopolysaccharidosis type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	1160691	\N	\N	EFO	3	EFO	bone disease	Mucopolysaccharidosis type 1
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	1160692	\N	\N	EFO	3	EFO	Rare palpebral disease	Mucopolysaccharidosis type 1
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	1160693	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	5060158	\N	\N	EFO	7	EFO	disease	Mucopolysaccharidosis type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	2044107	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	2044108	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	2044109	\N	\N	EFO	4	EFO	metabolic disease	Mucopolysaccharidosis type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	4400398	\N	\N	EFO	6	EFO	genetic disorder	Mucopolysaccharidosis type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	4400399	\N	\N	EFO	6	EFO	eye disease	Mucopolysaccharidosis type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	2044112	\N	\N	EFO	4	EFO	skeletal system disease	Mucopolysaccharidosis type 1
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	2044113	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Mucopolysaccharidosis type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	5817795	\N	\N	EFO	8	EFO	disposition	Mucopolysaccharidosis type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	3194279	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	5060159	\N	\N	EFO	7	EFO	disease	Mucopolysaccharidosis type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	3194281	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 1
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	3194282	\N	\N	EFO	5	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	6410275	\N	\N	EFO	9	EFO	material property	Mucopolysaccharidosis type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:579	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	6808106	\N	\N	EFO	10	EFO	experimental factor	Mucopolysaccharidosis type 1
Orphanet:58	\N	\N	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	77523	\N	\N	EFO	0	EFO	Alexander disease	Alexander disease
Orphanet:183500	Orphanet:58	\N	"" []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	221458	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Alexander disease
Orphanet:68356	Orphanet:58	\N	"" []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	221459	\N	\N	EFO	1	EFO	Leukodystrophy	Alexander disease
Orphanet:98691	Orphanet:58	\N	"" []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	221460	\N	\N	EFO	1	EFO	Abnormal eye movements	Alexander disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	577363	\N	\N	EFO	2	EFO	neurodegenerative disease	Alexander disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	577364	\N	\N	EFO	2	EFO	brain disease	Alexander disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	577365	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Alexander disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	577366	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Alexander disease
Orphanet:183616	Orphanet:98691	\N	"" []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	577367	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Alexander disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	1160694	\N	\N	EFO	3	EFO	nervous system disease	Alexander disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	1160695	\N	\N	EFO	3	EFO	nervous system disease	Alexander disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	1160696	\N	\N	EFO	3	EFO	genetic disorder	Alexander disease
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	1160697	\N	\N	EFO	3	EFO	Rare genetic eye disease	Alexander disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	2044114	\N	\N	EFO	4	EFO	disease	Alexander disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	3194284	\N	\N	EFO	5	EFO	disease	Alexander disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	2044116	\N	\N	EFO	4	EFO	genetic disorder	Alexander disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	2044117	\N	\N	EFO	4	EFO	eye disease	Alexander disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	4134177	\N	\N	EFO	6	EFO	disposition	Alexander disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	3194285	\N	\N	EFO	5	EFO	disease	Alexander disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	5183085	\N	\N	EFO	7	EFO	material property	Alexander disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:58	"Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." []	5998441	\N	\N	EFO	8	EFO	experimental factor	Alexander disease
Orphanet:580	\N	\N	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	77524	\N	\N	EFO	0	EFO	Mucopolysaccharidosis type 2	Mucopolysaccharidosis type 2
Orphanet:182076	Orphanet:580	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	221461	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Mucopolysaccharidosis type 2
Orphanet:217581	Orphanet:580	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	221462	\N	\N	EFO	1	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Mucopolysaccharidosis type 2
Orphanet:68385	Orphanet:580	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	221463	\N	\N	EFO	1	EFO	Neurometabolic disease	Mucopolysaccharidosis type 2
Orphanet:79213	Orphanet:580	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	221464	\N	\N	EFO	1	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis type 2
Orphanet:79388	Orphanet:580	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	221465	\N	\N	EFO	1	EFO	Mucopolysaccharidosis with skin involvement	Mucopolysaccharidosis type 2
Orphanet:93448	Orphanet:580	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	221466	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Mucopolysaccharidosis type 2
Orphanet:98578	Orphanet:580	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	221467	\N	\N	EFO	1	EFO	Ptosis	Mucopolysaccharidosis type 2
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	577368	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Mucopolysaccharidosis type 2
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	577369	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Mucopolysaccharidosis type 2
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	577370	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Mucopolysaccharidosis type 2
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	577371	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis type 2
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	577372	\N	\N	EFO	2	EFO	Lysosomal disease	Mucopolysaccharidosis type 2
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	577373	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis type 2
Orphanet:79387	Orphanet:79388	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	577374	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Mucopolysaccharidosis type 2
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	577375	\N	\N	EFO	2	EFO	Rare genetic bone disease	Mucopolysaccharidosis type 2
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	577376	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Mucopolysaccharidosis type 2
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	1160698	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Mucopolysaccharidosis type 2
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	1160699	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Mucopolysaccharidosis type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	4400401	\N	\N	EFO	6	EFO	genetic disorder	Mucopolysaccharidosis type 2
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	1160701	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis type 2
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	1160702	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Mucopolysaccharidosis type 2
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	1160703	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 2
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	1160704	\N	\N	EFO	3	EFO	Rare genetic skin disease	Mucopolysaccharidosis type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	1160705	\N	\N	EFO	3	EFO	genetic disorder	Mucopolysaccharidosis type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	1160706	\N	\N	EFO	3	EFO	bone disease	Mucopolysaccharidosis type 2
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	1160707	\N	\N	EFO	3	EFO	Rare palpebral disease	Mucopolysaccharidosis type 2
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	2044118	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Mucopolysaccharidosis type 2
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	2044119	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 2
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	2044120	\N	\N	EFO	4	EFO	heart disease	Mucopolysaccharidosis type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	5028464	\N	\N	EFO	7	EFO	disease	Mucopolysaccharidosis type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	2044122	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	2044123	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	2044124	\N	\N	EFO	4	EFO	metabolic disease	Mucopolysaccharidosis type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	4400404	\N	\N	EFO	6	EFO	genetic disorder	Mucopolysaccharidosis type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	4400405	\N	\N	EFO	6	EFO	eye disease	Mucopolysaccharidosis type 2
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	2044127	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 2
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	2044128	\N	\N	EFO	4	EFO	skin disease	Mucopolysaccharidosis type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	2044129	\N	\N	EFO	4	EFO	skeletal system disease	Mucopolysaccharidosis type 2
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	2044130	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Mucopolysaccharidosis type 2
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	3194286	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Mucopolysaccharidosis type 2
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	3194288	\N	\N	EFO	5	EFO	cardiovascular disease	Mucopolysaccharidosis type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	5817796	\N	\N	EFO	8	EFO	disposition	Mucopolysaccharidosis type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	3194290	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	5060160	\N	\N	EFO	7	EFO	disease	Mucopolysaccharidosis type 2
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	3194292	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	3194293	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 2
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	3194294	\N	\N	EFO	5	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 2
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	4400402	\N	\N	EFO	6	EFO	disease	Mucopolysaccharidosis type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	6410276	\N	\N	EFO	9	EFO	material property	Mucopolysaccharidosis type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:580	"Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." []	6808107	\N	\N	EFO	10	EFO	experimental factor	Mucopolysaccharidosis type 2
Orphanet:581	\N	\N	"" []	Orphanet:581	"" []	77525	\N	\N	EFO	0	EFO	Mucopolysaccharidosis type 3	Mucopolysaccharidosis type 3
Orphanet:68385	Orphanet:581	\N	"" []	Orphanet:581	"" []	221468	\N	\N	EFO	1	EFO	Neurometabolic disease	Mucopolysaccharidosis type 3
Orphanet:79213	Orphanet:581	\N	"" []	Orphanet:581	"" []	221469	\N	\N	EFO	1	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis type 3
Orphanet:93448	Orphanet:581	\N	"" []	Orphanet:581	"" []	221470	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Mucopolysaccharidosis type 3
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:581	"" []	577377	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Mucopolysaccharidosis type 3
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:581	"" []	577378	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis type 3
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:581	"" []	577379	\N	\N	EFO	2	EFO	Lysosomal disease	Mucopolysaccharidosis type 3
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:581	"" []	577380	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis type 3
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:581	"" []	577381	\N	\N	EFO	2	EFO	Rare genetic bone disease	Mucopolysaccharidosis type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:581	"" []	1160708	\N	\N	EFO	3	EFO	genetic disorder	Mucopolysaccharidosis type 3
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:581	"" []	1160709	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis type 3
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:581	"" []	1160710	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Mucopolysaccharidosis type 3
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:581	"" []	1160711	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:581	"" []	1160712	\N	\N	EFO	3	EFO	genetic disorder	Mucopolysaccharidosis type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:581	"" []	1160713	\N	\N	EFO	3	EFO	bone disease	Mucopolysaccharidosis type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:581	"" []	3194296	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:581	"" []	2044132	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:581	"" []	2044133	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:581	"" []	2044134	\N	\N	EFO	4	EFO	metabolic disease	Mucopolysaccharidosis type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:581	"" []	2044135	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:581	"" []	2044136	\N	\N	EFO	4	EFO	eye disease	Mucopolysaccharidosis type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:581	"" []	2044137	\N	\N	EFO	4	EFO	skeletal system disease	Mucopolysaccharidosis type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:581	"" []	4134179	\N	\N	EFO	6	EFO	disposition	Mucopolysaccharidosis type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:581	"" []	3194297	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:581	"" []	3194298	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:581	"" []	3194299	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:581	"" []	5183087	\N	\N	EFO	7	EFO	material property	Mucopolysaccharidosis type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:581	"" []	5998443	\N	\N	EFO	8	EFO	experimental factor	Mucopolysaccharidosis type 3
Orphanet:582	\N	\N	"" []	Orphanet:582	"" []	77526	\N	\N	EFO	0	EFO	Mucopolysaccharidosis type 4	Mucopolysaccharidosis type 4
Orphanet:79213	Orphanet:582	\N	"" []	Orphanet:582	"" []	221471	\N	\N	EFO	1	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis type 4
Orphanet:93448	Orphanet:582	\N	"" []	Orphanet:582	"" []	221472	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Mucopolysaccharidosis type 4
Orphanet:98711	Orphanet:582	\N	"" []	Orphanet:582	"" []	221473	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Mucopolysaccharidosis type 4
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:582	"" []	577382	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis type 4
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:582	"" []	577383	\N	\N	EFO	2	EFO	Lysosomal disease	Mucopolysaccharidosis type 4
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:582	"" []	577384	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis type 4
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:582	"" []	577385	\N	\N	EFO	2	EFO	Rare genetic bone disease	Mucopolysaccharidosis type 4
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:582	"" []	577386	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Mucopolysaccharidosis type 4
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:582	"" []	1160714	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis type 4
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:582	"" []	1160715	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Mucopolysaccharidosis type 4
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:582	"" []	1160716	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 4
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:582	"" []	1160717	\N	\N	EFO	3	EFO	genetic disorder	Mucopolysaccharidosis type 4
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:582	"" []	1160718	\N	\N	EFO	3	EFO	bone disease	Mucopolysaccharidosis type 4
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:582	"" []	1160719	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 4
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:582	"" []	2044138	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 4
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:582	"" []	2044139	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 4
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:582	"" []	2044140	\N	\N	EFO	4	EFO	metabolic disease	Mucopolysaccharidosis type 4
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:582	"" []	2044141	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 4
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:582	"" []	2044142	\N	\N	EFO	4	EFO	eye disease	Mucopolysaccharidosis type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:582	"" []	3194300	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 4
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:582	"" []	2044144	\N	\N	EFO	4	EFO	skeletal system disease	Mucopolysaccharidosis type 4
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:582	"" []	3194301	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 4
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:582	"" []	3194302	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:582	"" []	4134180	\N	\N	EFO	6	EFO	disposition	Mucopolysaccharidosis type 4
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:582	"" []	3194304	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:582	"" []	5183088	\N	\N	EFO	7	EFO	material property	Mucopolysaccharidosis type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:582	"" []	5998444	\N	\N	EFO	8	EFO	experimental factor	Mucopolysaccharidosis type 4
Orphanet:583	\N	\N	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	77527	\N	\N	EFO	0	EFO	Mucopolysaccharidosis type 6	Mucopolysaccharidosis type 6
Orphanet:79213	Orphanet:583	\N	"" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	221474	\N	\N	EFO	1	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis type 6
Orphanet:93448	Orphanet:583	\N	"" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	221475	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Mucopolysaccharidosis type 6
Orphanet:98711	Orphanet:583	\N	"" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	221476	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Mucopolysaccharidosis type 6
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	577387	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis type 6
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	577388	\N	\N	EFO	2	EFO	Lysosomal disease	Mucopolysaccharidosis type 6
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	577389	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis type 6
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	577390	\N	\N	EFO	2	EFO	Rare genetic bone disease	Mucopolysaccharidosis type 6
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	577391	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Mucopolysaccharidosis type 6
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	1160720	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis type 6
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	1160721	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Mucopolysaccharidosis type 6
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	1160722	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 6
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	1160723	\N	\N	EFO	3	EFO	genetic disorder	Mucopolysaccharidosis type 6
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	1160724	\N	\N	EFO	3	EFO	bone disease	Mucopolysaccharidosis type 6
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	1160725	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 6
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	2044145	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 6
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	2044146	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 6
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	2044147	\N	\N	EFO	4	EFO	metabolic disease	Mucopolysaccharidosis type 6
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	2044148	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 6
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	2044149	\N	\N	EFO	4	EFO	eye disease	Mucopolysaccharidosis type 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	3194305	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 6
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	2044151	\N	\N	EFO	4	EFO	skeletal system disease	Mucopolysaccharidosis type 6
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	3194306	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 6
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	3194307	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	4134181	\N	\N	EFO	6	EFO	disposition	Mucopolysaccharidosis type 6
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	3194309	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	5183089	\N	\N	EFO	7	EFO	material property	Mucopolysaccharidosis type 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:583	"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." []	5998445	\N	\N	EFO	8	EFO	experimental factor	Mucopolysaccharidosis type 6
Orphanet:584	\N	\N	"" []	Orphanet:584	"" []	77528	\N	\N	EFO	0	EFO	Mucopolysaccharidosis type 7	Mucopolysaccharidosis type 7
Orphanet:79213	Orphanet:584	\N	"" []	Orphanet:584	"" []	221477	\N	\N	EFO	1	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis type 7
Orphanet:93448	Orphanet:584	\N	"" []	Orphanet:584	"" []	221478	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Mucopolysaccharidosis type 7
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:584	"" []	577392	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis type 7
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:584	"" []	577393	\N	\N	EFO	2	EFO	Lysosomal disease	Mucopolysaccharidosis type 7
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:584	"" []	577394	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis type 7
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:584	"" []	577395	\N	\N	EFO	2	EFO	Rare genetic bone disease	Mucopolysaccharidosis type 7
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:584	"" []	1160726	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis type 7
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:584	"" []	1160727	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Mucopolysaccharidosis type 7
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:584	"" []	1160728	\N	\N	EFO	3	EFO	Rare genetic eye disease	Mucopolysaccharidosis type 7
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:584	"" []	1160729	\N	\N	EFO	3	EFO	genetic disorder	Mucopolysaccharidosis type 7
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:584	"" []	1160730	\N	\N	EFO	3	EFO	bone disease	Mucopolysaccharidosis type 7
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:584	"" []	2044152	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 7
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:584	"" []	2044153	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 7
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:584	"" []	2044154	\N	\N	EFO	4	EFO	metabolic disease	Mucopolysaccharidosis type 7
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:584	"" []	2044155	\N	\N	EFO	4	EFO	genetic disorder	Mucopolysaccharidosis type 7
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:584	"" []	2044156	\N	\N	EFO	4	EFO	eye disease	Mucopolysaccharidosis type 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:584	"" []	3194310	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 7
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:584	"" []	2044158	\N	\N	EFO	4	EFO	skeletal system disease	Mucopolysaccharidosis type 7
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:584	"" []	3194311	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 7
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:584	"" []	3194312	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:584	"" []	4134182	\N	\N	EFO	6	EFO	disposition	Mucopolysaccharidosis type 7
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:584	"" []	3194314	\N	\N	EFO	5	EFO	disease	Mucopolysaccharidosis type 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:584	"" []	5183090	\N	\N	EFO	7	EFO	material property	Mucopolysaccharidosis type 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:584	"" []	5998446	\N	\N	EFO	8	EFO	experimental factor	Mucopolysaccharidosis type 7
Orphanet:585	\N	\N	"" []	Orphanet:585	"" []	77529	\N	\N	EFO	0	EFO	Multiple sulfatase deficiency	Multiple sulfatase deficiency
Orphanet:139009	Orphanet:585	\N	"" []	Orphanet:585	"" []	221479	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Multiple sulfatase deficiency
Orphanet:281241	Orphanet:585	\N	"" []	Orphanet:585	"" []	221480	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with fatal disease course	Multiple sulfatase deficiency
Orphanet:68385	Orphanet:585	\N	"" []	Orphanet:585	"" []	221481	\N	\N	EFO	1	EFO	Neurometabolic disease	Multiple sulfatase deficiency
Orphanet:79225	Orphanet:585	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:585	"" []	221482	\N	\N	EFO	1	EFO	Sphingolipidosis	Multiple sulfatase deficiency
Orphanet:93448	Orphanet:585	\N	"" []	Orphanet:585	"" []	221483	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Multiple sulfatase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:585	"" []	577396	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Multiple sulfatase deficiency
Orphanet:281217	Orphanet:281241	\N	"" []	Orphanet:585	"" []	577397	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Multiple sulfatase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:585	"" []	577398	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Multiple sulfatase deficiency
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:585	"" []	577399	\N	\N	EFO	2	EFO	Lysosomal disease	Multiple sulfatase deficiency
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:585	"" []	577400	\N	\N	EFO	2	EFO	Rare genetic bone disease	Multiple sulfatase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:585	"" []	1160731	\N	\N	EFO	3	EFO	genetic disorder	Multiple sulfatase deficiency
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:585	"" []	1160732	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Multiple sulfatase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:585	"" []	1160733	\N	\N	EFO	3	EFO	genetic disorder	Multiple sulfatase deficiency
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:585	"" []	1160734	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Multiple sulfatase deficiency
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:585	"" []	1160735	\N	\N	EFO	3	EFO	genetic disorder	Multiple sulfatase deficiency
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:585	"" []	1160736	\N	\N	EFO	3	EFO	bone disease	Multiple sulfatase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:585	"" []	6152291	\N	\N	EFO	8	EFO	disease	Multiple sulfatase deficiency
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:585	"" []	2044160	\N	\N	EFO	4	EFO	Inherited ichthyosis	Multiple sulfatase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:585	"" []	2044161	\N	\N	EFO	4	EFO	genetic disorder	Multiple sulfatase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:585	"" []	2044162	\N	\N	EFO	4	EFO	metabolic disease	Multiple sulfatase deficiency
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:585	"" []	2044163	\N	\N	EFO	4	EFO	skeletal system disease	Multiple sulfatase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:585	"" []	6378962	\N	\N	EFO	9	EFO	disposition	Multiple sulfatase deficiency
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:585	"" []	3194316	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Multiple sulfatase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:585	"" []	3194318	\N	\N	EFO	5	EFO	disease	Multiple sulfatase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:585	"" []	3194319	\N	\N	EFO	5	EFO	disease	Multiple sulfatase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:585	"" []	6778791	\N	\N	EFO	10	EFO	material property	Multiple sulfatase deficiency
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:585	"" []	4400411	\N	\N	EFO	6	EFO	Rare genetic skin disease	Multiple sulfatase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:585	"" []	7029984	\N	\N	EFO	11	EFO	experimental factor	Multiple sulfatase deficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:585	"" []	5417089	\N	\N	EFO	7	EFO	genetic disorder	Multiple sulfatase deficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:585	"" []	5417090	\N	\N	EFO	7	EFO	skin disease	Multiple sulfatase deficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:585	"" []	6152292	\N	\N	EFO	8	EFO	disease	Multiple sulfatase deficiency
Orphanet:586	\N	\N	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	77530	\N	\N	EFO	0	EFO	Cystic fibrosis	Cystic fibrosis
Orphanet:156610	Orphanet:586	\N	"" []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	221484	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Cystic fibrosis
Orphanet:165661	Orphanet:586	\N	"" []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	221485	\N	\N	EFO	1	EFO	Genetic pancreatic disease	Cystic fibrosis
Orphanet:400003	Orphanet:586	\N	"" []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	221486	\N	\N	EFO	1	EFO	Rare genetic disorder with obstructive azoospermia	Cystic fibrosis
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	577401	\N	\N	EFO	2	EFO	genetic disorder	Cystic fibrosis
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	577402	\N	\N	EFO	2	EFO	respiratory system disease	Cystic fibrosis
EFO:0001379	Orphanet:165661	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	577403	\N	\N	EFO	2	EFO	endocrine system disease	Cystic fibrosis
Orphanet:165652	Orphanet:165661	\N	"" []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	577404	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Cystic fibrosis
Orphanet:399998	Orphanet:400003	\N	"" []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	577405	\N	\N	EFO	2	EFO	Male infertility due to obstructive azoospermia of genetic origin	Cystic fibrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	4400413	\N	\N	EFO	6	EFO	disease	Cystic fibrosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	1160738	\N	\N	EFO	3	EFO	disease	Cystic fibrosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	1160739	\N	\N	EFO	3	EFO	disease	Cystic fibrosis
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	1160740	\N	\N	EFO	3	EFO	genetic disorder	Cystic fibrosis
Orphanet:399980	Orphanet:399998	\N	"" []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	1160741	\N	\N	EFO	3	EFO	Rare genetic male infertility	Cystic fibrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	5028465	\N	\N	EFO	7	EFO	disposition	Cystic fibrosis
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	2044166	\N	\N	EFO	4	EFO	Genetic infertility	Cystic fibrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	5817797	\N	\N	EFO	8	EFO	material property	Cystic fibrosis
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	3194321	\N	\N	EFO	5	EFO	genetic disorder	Cystic fibrosis
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	3194322	\N	\N	EFO	5	EFO	reproductive system disease	Cystic fibrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	6410277	\N	\N	EFO	9	EFO	experimental factor	Cystic fibrosis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:586	"Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." []	4400414	\N	\N	EFO	6	EFO	disease	Cystic fibrosis
Orphanet:587	\N	\N	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	77531	\N	\N	EFO	0	EFO	Muir-Torre syndrome	Muir-Torre syndrome
Orphanet:144	Orphanet:587	\N	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	221487	\N	\N	EFO	1	EFO	Lynch syndrome	Muir-Torre syndrome
Orphanet:183487	Orphanet:587	\N	"" []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	221488	\N	\N	EFO	1	EFO	Genetic skin tumor	Muir-Torre syndrome
Orphanet:98585	Orphanet:587	\N	"" []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	221489	\N	\N	EFO	1	EFO	Palpebral sebaceous gland tumor	Muir-Torre syndrome
EFO:0004288	Orphanet:144	\N	"Tumors or cancer of the COLON." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	577406	\N	\N	EFO	2	EFO	colonic neoplasm	Muir-Torre syndrome
Orphanet:140162	Orphanet:144	\N	"" []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	577407	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Muir-Torre syndrome
Orphanet:271835	Orphanet:144	\N	"" []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	577408	\N	\N	EFO	2	EFO	Genetic digestive tract tumor	Muir-Torre syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	577409	\N	\N	EFO	2	EFO	skin neoplasm	Muir-Torre syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	577410	\N	\N	EFO	2	EFO	Rare genetic tumor	Muir-Torre syndrome
Orphanet:98580	Orphanet:98585	\N	"" []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	577411	\N	\N	EFO	2	EFO	Palpebral tumor	Muir-Torre syndrome
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	1160742	\N	\N	EFO	3	EFO	digestive system disease	Muir-Torre syndrome
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	1160743	\N	\N	EFO	3	EFO	neoplasm	Muir-Torre syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	1160744	\N	\N	EFO	3	EFO	genetic disorder	Muir-Torre syndrome
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	1160745	\N	\N	EFO	3	EFO	digestive system disease	Muir-Torre syndrome
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	1160746	\N	\N	EFO	3	EFO	Rare genetic tumor	Muir-Torre syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	1160747	\N	\N	EFO	3	EFO	neoplasm	Muir-Torre syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	1160748	\N	\N	EFO	3	EFO	skin disease	Muir-Torre syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	2044170	\N	\N	EFO	4	EFO	genetic disorder	Muir-Torre syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	2044171	\N	\N	EFO	4	EFO	neoplasm	Muir-Torre syndrome
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	1160751	\N	\N	EFO	3	EFO	Rare palpebral disease	Muir-Torre syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	2044167	\N	\N	EFO	4	EFO	disease	Muir-Torre syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	3000395	\N	\N	EFO	5	EFO	disease	Muir-Torre syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	5417092	\N	\N	EFO	7	EFO	disease	Muir-Torre syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	2044172	\N	\N	EFO	4	EFO	disease	Muir-Torre syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	2044173	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Muir-Torre syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	5817798	\N	\N	EFO	8	EFO	disposition	Muir-Torre syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	3194324	\N	\N	EFO	5	EFO	Rare genetic eye disease	Muir-Torre syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	6410278	\N	\N	EFO	9	EFO	material property	Muir-Torre syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	4400416	\N	\N	EFO	6	EFO	genetic disorder	Muir-Torre syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	4400417	\N	\N	EFO	6	EFO	eye disease	Muir-Torre syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	6808108	\N	\N	EFO	10	EFO	experimental factor	Muir-Torre syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:587	"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." []	5417093	\N	\N	EFO	7	EFO	disease	Muir-Torre syndrome
Orphanet:588	\N	\N	"" []	Orphanet:588	"" []	77532	\N	\N	EFO	0	EFO	Muscle-eye-brain disease	Muscle-eye-brain disease
Orphanet:207119	Orphanet:588	\N	"" []	Orphanet:588	"" []	221490	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of FKRP	Muscle-eye-brain disease
Orphanet:207122	Orphanet:588	\N	"" []	Orphanet:588	"" []	221491	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of fukutin	Muscle-eye-brain disease
Orphanet:209024	Orphanet:588	\N	"" []	Orphanet:588	"" []	221492	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	Muscle-eye-brain disease
Orphanet:209033	Orphanet:588	\N	"" []	Orphanet:588	"" []	221493	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein O-mannosyltransferase 2	Muscle-eye-brain disease
Orphanet:309469	Orphanet:588	\N	"" []	Orphanet:588	"" []	221494	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Muscle-eye-brain disease
Orphanet:352687	Orphanet:588	\N	"" []	Orphanet:588	"" []	221495	\N	\N	EFO	1	EFO	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	Muscle-eye-brain disease
Orphanet:371064	Orphanet:588	\N	"" []	Orphanet:588	"" []	221496	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Muscle-eye-brain disease
Orphanet:371071	Orphanet:588	\N	"" []	Orphanet:588	"" []	221497	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Muscle-eye-brain disease
Orphanet:371235	Orphanet:588	\N	"" []	Orphanet:588	"" []	221498	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with developmental anomaly	Muscle-eye-brain disease
Orphanet:98620	Orphanet:588	\N	"" []	Orphanet:588	"" []	221499	\N	\N	EFO	1	EFO	Syndromic myopia	Muscle-eye-brain disease
Orphanet:207113	Orphanet:207119	\N	"" []	Orphanet:588	"" []	577412	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Muscle-eye-brain disease
Orphanet:207113	Orphanet:207122	\N	"" []	Orphanet:588	"" []	577413	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Muscle-eye-brain disease
Orphanet:207113	Orphanet:209024	\N	"" []	Orphanet:588	"" []	577414	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Muscle-eye-brain disease
Orphanet:207113	Orphanet:209033	\N	"" []	Orphanet:588	"" []	577415	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Muscle-eye-brain disease
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:588	"" []	577416	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Muscle-eye-brain disease
Orphanet:370953	Orphanet:352687	\N	"" []	Orphanet:588	"" []	577417	\N	\N	EFO	2	EFO	Congenital muscular dystrophy due to dystroglycanopathy	Muscle-eye-brain disease
Orphanet:51577	Orphanet:352687	\N	"" []	Orphanet:588	"" []	577418	\N	\N	EFO	2	EFO	Cobblestone lissencephaly	Muscle-eye-brain disease
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:588	"" []	577419	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Muscle-eye-brain disease
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:588	"" []	577420	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Muscle-eye-brain disease
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:588	"" []	577421	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Muscle-eye-brain disease
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:588	"" []	577422	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Muscle-eye-brain disease
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:588	"" []	577423	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	Muscle-eye-brain disease
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:588	"" []	1160752	\N	\N	EFO	3	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Muscle-eye-brain disease
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:588	"" []	1160753	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Muscle-eye-brain disease
Orphanet:97242	Orphanet:370953	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:588	"" []	1160754	\N	\N	EFO	3	EFO	Congenital muscular dystrophy	Muscle-eye-brain disease
Orphanet:48471	Orphanet:51577	\N	"" []	Orphanet:588	"" []	1160755	\N	\N	EFO	3	EFO	Lissencephaly	Muscle-eye-brain disease
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:588	"" []	1160756	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Muscle-eye-brain disease
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:588	"" []	1160757	\N	\N	EFO	3	EFO	Neurometabolic disease	Muscle-eye-brain disease
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:588	"" []	1160758	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Muscle-eye-brain disease
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:588	"" []	1160759	\N	\N	EFO	3	EFO	Rare genetic eye disease	Muscle-eye-brain disease
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:588	"" []	2044174	\N	\N	EFO	4	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Muscle-eye-brain disease
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:588	"" []	2044175	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Muscle-eye-brain disease
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:588	"" []	2044176	\N	\N	EFO	4	EFO	Muscular dystrophy	Muscle-eye-brain disease
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:588	"" []	2044177	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Muscle-eye-brain disease
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:588	"" []	2044178	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Muscle-eye-brain disease
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:588	"" []	2044179	\N	\N	EFO	4	EFO	Genetic syndrome with a central nervous system malformation as major feature	Muscle-eye-brain disease
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:588	"" []	3194330	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Muscle-eye-brain disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:588	"" []	2044181	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Muscle-eye-brain disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:588	"" []	5417097	\N	\N	EFO	7	EFO	genetic disorder	Muscle-eye-brain disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:588	"" []	2044183	\N	\N	EFO	4	EFO	genetic disorder	Muscle-eye-brain disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:588	"" []	2044184	\N	\N	EFO	4	EFO	eye disease	Muscle-eye-brain disease
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:588	"" []	3194325	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Muscle-eye-brain disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:588	"" []	3194326	\N	\N	EFO	5	EFO	genetic disorder	Muscle-eye-brain disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:588	"" []	3194327	\N	\N	EFO	5	EFO	metabolic disease	Muscle-eye-brain disease
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:588	"" []	3194328	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Muscle-eye-brain disease
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:588	"" []	3194329	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Muscle-eye-brain disease
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:588	"" []	3194331	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Muscle-eye-brain disease
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:588	"" []	4134186	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Muscle-eye-brain disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:588	"" []	5998450	\N	\N	EFO	8	EFO	genetic disorder	Muscle-eye-brain disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:588	"" []	6410279	\N	\N	EFO	9	EFO	disease	Muscle-eye-brain disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:588	"" []	3194335	\N	\N	EFO	5	EFO	disease	Muscle-eye-brain disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:588	"" []	5417095	\N	\N	EFO	7	EFO	muscular disease	Muscle-eye-brain disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:588	"" []	5417096	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Muscle-eye-brain disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:588	"" []	4400421	\N	\N	EFO	6	EFO	disease	Muscle-eye-brain disease
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:588	"" []	4400422	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Muscle-eye-brain disease
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:588	"" []	4400423	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Muscle-eye-brain disease
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:588	"" []	4400424	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Muscle-eye-brain disease
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:588	"" []	4400425	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Muscle-eye-brain disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:588	"" []	6778792	\N	\N	EFO	10	EFO	disposition	Muscle-eye-brain disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:588	"" []	5998449	\N	\N	EFO	8	EFO	skeletal system disease	Muscle-eye-brain disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:588	"" []	7029985	\N	\N	EFO	11	EFO	material property	Muscle-eye-brain disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:588	"" []	6551592	\N	\N	EFO	9	EFO	disease	Muscle-eye-brain disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:588	"" []	7181815	\N	\N	EFO	12	EFO	experimental factor	Muscle-eye-brain disease
Orphanet:59	\N	\N	"" []	Orphanet:59	"" []	77533	\N	\N	EFO	0	EFO	Allan-Herndon-Dudley syndrome	Allan-Herndon-Dudley syndrome
Orphanet:226310	Orphanet:59	\N	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	Orphanet:59	"" []	221500	\N	\N	EFO	1	EFO	Peripheral hypothyroidism	Allan-Herndon-Dudley syndrome
Orphanet:280270	Orphanet:59	\N	"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." []	Orphanet:59	"" []	221501	\N	\N	EFO	1	EFO	Pelizaeus-Merzbacher-like disease	Allan-Herndon-Dudley syndrome
Orphanet:320350	Orphanet:59	\N	"" []	Orphanet:59	"" []	221502	\N	\N	EFO	1	EFO	Pure or complex X-linked spastic paraplegia	Allan-Herndon-Dudley syndrome
Orphanet:98464	Orphanet:59	\N	"" []	Orphanet:59	"" []	221503	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Allan-Herndon-Dudley syndrome
Orphanet:226292	Orphanet:226310	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:59	"" []	577424	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Allan-Herndon-Dudley syndrome
Orphanet:68356	Orphanet:280270	\N	"" []	Orphanet:59	"" []	577425	\N	\N	EFO	2	EFO	Leukodystrophy	Allan-Herndon-Dudley syndrome
Orphanet:320335	Orphanet:320350	\N	"" []	Orphanet:59	"" []	577426	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Allan-Herndon-Dudley syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:59	"" []	577427	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Allan-Herndon-Dudley syndrome
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:59	"" []	1160760	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Allan-Herndon-Dudley syndrome
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:59	"" []	1160761	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Allan-Herndon-Dudley syndrome
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:59	"" []	1160762	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Allan-Herndon-Dudley syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:59	"" []	1160763	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Allan-Herndon-Dudley syndrome
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:59	"" []	2044185	\N	\N	EFO	4	EFO	Rare hypothyroidism	Allan-Herndon-Dudley syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:59	"" []	4400433	\N	\N	EFO	6	EFO	genetic disorder	Allan-Herndon-Dudley syndrome
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:59	"" []	2044187	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Allan-Herndon-Dudley syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:59	"" []	2044188	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Allan-Herndon-Dudley syndrome
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:59	"" []	3194336	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Allan-Herndon-Dudley syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59	"" []	6152296	\N	\N	EFO	8	EFO	disease	Allan-Herndon-Dudley syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:59	"" []	3194338	\N	\N	EFO	5	EFO	neurodegenerative disease	Allan-Herndon-Dudley syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:59	"" []	3194339	\N	\N	EFO	5	EFO	brain disease	Allan-Herndon-Dudley syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:59	"" []	3194340	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Allan-Herndon-Dudley syndrome
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:59	"" []	4400428	\N	\N	EFO	6	EFO	thyroid disease	Allan-Herndon-Dudley syndrome
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:59	"" []	4400429	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Allan-Herndon-Dudley syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:59	"" []	6410281	\N	\N	EFO	9	EFO	disposition	Allan-Herndon-Dudley syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:59	"" []	4400431	\N	\N	EFO	6	EFO	nervous system disease	Allan-Herndon-Dudley syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:59	"" []	4400432	\N	\N	EFO	6	EFO	nervous system disease	Allan-Herndon-Dudley syndrome
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:59	"" []	5417099	\N	\N	EFO	7	EFO	endocrine system disease	Allan-Herndon-Dudley syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:59	"" []	5417100	\N	\N	EFO	7	EFO	genetic disorder	Allan-Herndon-Dudley syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:59	"" []	5417101	\N	\N	EFO	7	EFO	endocrine system disease	Allan-Herndon-Dudley syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:59	"" []	6808110	\N	\N	EFO	10	EFO	material property	Allan-Herndon-Dudley syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59	"" []	5417103	\N	\N	EFO	7	EFO	disease	Allan-Herndon-Dudley syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59	"" []	6152295	\N	\N	EFO	8	EFO	disease	Allan-Herndon-Dudley syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:59	"" []	7048776	\N	\N	EFO	11	EFO	experimental factor	Allan-Herndon-Dudley syndrome
Orphanet:590	\N	\N	"" []	Orphanet:590	"" []	77534	\N	\N	EFO	0	EFO	Congenital myasthenic syndromes	Congenital myasthenic syndromes
Orphanet:98495	Orphanet:590	\N	"" []	Orphanet:590	"" []	221504	\N	\N	EFO	1	EFO	Genetic neuromuscular junction disease	Congenital myasthenic syndromes
Orphanet:98578	Orphanet:590	\N	"" []	Orphanet:590	"" []	221505	\N	\N	EFO	1	EFO	Ptosis	Congenital myasthenic syndromes
Orphanet:98690	Orphanet:590	\N	"" []	Orphanet:590	"" []	221506	\N	\N	EFO	1	EFO	Myasthenic syndrome with eye involvement	Congenital myasthenic syndromes
Orphanet:183497	Orphanet:98495	\N	"" []	Orphanet:590	"" []	577428	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Congenital myasthenic syndromes
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:590	"" []	577429	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Congenital myasthenic syndromes
Orphanet:98689	Orphanet:98690	\N	"" []	Orphanet:590	"" []	577430	\N	\N	EFO	2	EFO	Myopathy with eye involvement	Congenital myasthenic syndromes
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:590	"" []	1160764	\N	\N	EFO	3	EFO	muscular disease	Congenital myasthenic syndromes
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:590	"" []	1160765	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Congenital myasthenic syndromes
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:590	"" []	1160766	\N	\N	EFO	3	EFO	Rare palpebral disease	Congenital myasthenic syndromes
Orphanet:183616	Orphanet:98689	\N	"" []	Orphanet:590	"" []	1160767	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Congenital myasthenic syndromes
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:590	"" []	2044189	\N	\N	EFO	4	EFO	skeletal system disease	Congenital myasthenic syndromes
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:590	"" []	2044190	\N	\N	EFO	4	EFO	genetic disorder	Congenital myasthenic syndromes
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:590	"" []	2044191	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital myasthenic syndromes
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:590	"" []	2044192	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital myasthenic syndromes
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:590	"" []	3194342	\N	\N	EFO	5	EFO	disease	Congenital myasthenic syndromes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:590	"" []	5183099	\N	\N	EFO	7	EFO	disease	Congenital myasthenic syndromes
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:590	"" []	3194344	\N	\N	EFO	5	EFO	Rare genetic eye disease	Congenital myasthenic syndromes
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:590	"" []	4400435	\N	\N	EFO	6	EFO	genetic disorder	Congenital myasthenic syndromes
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:590	"" []	4400436	\N	\N	EFO	6	EFO	eye disease	Congenital myasthenic syndromes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:590	"" []	5877587	\N	\N	EFO	8	EFO	disposition	Congenital myasthenic syndromes
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:590	"" []	5183100	\N	\N	EFO	7	EFO	disease	Congenital myasthenic syndromes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:590	"" []	6470822	\N	\N	EFO	9	EFO	material property	Congenital myasthenic syndromes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:590	"" []	6848727	\N	\N	EFO	10	EFO	experimental factor	Congenital myasthenic syndromes
Orphanet:59135	\N	\N	"" []	Orphanet:59135	"" []	77535	\N	\N	EFO	0	EFO	Laing early-onset distal myopathy	Laing early-onset distal myopathy
Orphanet:206650	Orphanet:59135	\N	"" []	Orphanet:59135	"" []	221507	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Laing early-onset distal myopathy
Orphanet:209185	Orphanet:59135	\N	"" []	Orphanet:59135	"" []	221508	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	Laing early-onset distal myopathy
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:59135	"" []	577431	\N	\N	EFO	2	EFO	Distal myopathy	Laing early-onset distal myopathy
Orphanet:207049	Orphanet:209185	\N	"" []	Orphanet:59135	"" []	577432	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Laing early-onset distal myopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:59135	"" []	1160768	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Laing early-onset distal myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:59135	"" []	1160769	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Laing early-onset distal myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:59135	"" []	2044193	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Laing early-onset distal myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:59135	"" []	3194347	\N	\N	EFO	5	EFO	muscular disease	Laing early-onset distal myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:59135	"" []	3194348	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Laing early-onset distal myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:59135	"" []	4134188	\N	\N	EFO	6	EFO	skeletal system disease	Laing early-onset distal myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:59135	"" []	4134189	\N	\N	EFO	6	EFO	genetic disorder	Laing early-onset distal myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59135	"" []	5183101	\N	\N	EFO	7	EFO	disease	Laing early-onset distal myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59135	"" []	5183102	\N	\N	EFO	7	EFO	disease	Laing early-onset distal myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:59135	"" []	5998454	\N	\N	EFO	8	EFO	disposition	Laing early-onset distal myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:59135	"" []	6551596	\N	\N	EFO	9	EFO	material property	Laing early-onset distal myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:59135	"" []	6889493	\N	\N	EFO	10	EFO	experimental factor	Laing early-onset distal myopathy
Orphanet:59181	\N	\N	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	77536	\N	\N	EFO	0	EFO	Sorsby's fundus dystrophy	Sorsby's fundus dystrophy
Orphanet:98666	Orphanet:59181	\N	"" []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	221509	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Sorsby's fundus dystrophy
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	577433	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Sorsby's fundus dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	1160770	\N	\N	EFO	3	EFO	Retinal dystrophy	Sorsby's fundus dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	2044196	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Sorsby's fundus dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	3194351	\N	\N	EFO	5	EFO	Rare genetic eye disease	Sorsby's fundus dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	4400441	\N	\N	EFO	6	EFO	genetic disorder	Sorsby's fundus dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	4400442	\N	\N	EFO	6	EFO	eye disease	Sorsby's fundus dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	5417106	\N	\N	EFO	7	EFO	disease	Sorsby's fundus dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	5417107	\N	\N	EFO	7	EFO	disease	Sorsby's fundus dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	6152300	\N	\N	EFO	8	EFO	disposition	Sorsby's fundus dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	6634011	\N	\N	EFO	9	EFO	material property	Sorsby's fundus dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:59181	"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." []	6926211	\N	\N	EFO	10	EFO	experimental factor	Sorsby's fundus dystrophy
Orphanet:593	\N	\N	"" []	Orphanet:593	"" []	77537	\N	\N	EFO	0	EFO	Myofibrillar myopathy	Myofibrillar myopathy
Orphanet:206656	Orphanet:593	\N	"" []	Orphanet:593	"" []	221510	\N	\N	EFO	1	EFO	Non-dystrophic myopathy	Myofibrillar myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:593	"" []	577434	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Myofibrillar myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:593	"" []	1160771	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Myofibrillar myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:593	"" []	2044197	\N	\N	EFO	4	EFO	muscular disease	Myofibrillar myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:593	"" []	2044198	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Myofibrillar myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:593	"" []	3194352	\N	\N	EFO	5	EFO	skeletal system disease	Myofibrillar myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:593	"" []	3194353	\N	\N	EFO	5	EFO	genetic disorder	Myofibrillar myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:593	"" []	4400443	\N	\N	EFO	6	EFO	disease	Myofibrillar myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:593	"" []	4400444	\N	\N	EFO	6	EFO	disease	Myofibrillar myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:593	"" []	5417108	\N	\N	EFO	7	EFO	disposition	Myofibrillar myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:593	"" []	6152301	\N	\N	EFO	8	EFO	material property	Myofibrillar myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:593	"" []	6634012	\N	\N	EFO	9	EFO	experimental factor	Myofibrillar myopathy
Orphanet:59303	\N	\N	"" []	Orphanet:59303	"" []	77538	\N	\N	EFO	0	EFO	Ichthyosis - hypotrichosis - sclerosing cholangitis	Ichthyosis - hypotrichosis - sclerosing cholangitis
Orphanet:156607	Orphanet:59303	\N	"" []	Orphanet:59303	"" []	221511	\N	\N	EFO	1	EFO	Genetic biliary tract disease	Ichthyosis - hypotrichosis - sclerosing cholangitis
Orphanet:281222	Orphanet:59303	\N	"" []	Orphanet:59303	"" []	221512	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with prominent hair abnormalities	Ichthyosis - hypotrichosis - sclerosing cholangitis
Orphanet:156601	Orphanet:156607	\N	"" []	Orphanet:59303	"" []	577435	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Ichthyosis - hypotrichosis - sclerosing cholangitis
Orphanet:281217	Orphanet:281222	\N	"" []	Orphanet:59303	"" []	577436	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Ichthyosis - hypotrichosis - sclerosing cholangitis
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:59303	"" []	1160772	\N	\N	EFO	3	EFO	digestive system disease	Ichthyosis - hypotrichosis - sclerosing cholangitis
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:59303	"" []	1160773	\N	\N	EFO	3	EFO	genetic disorder	Ichthyosis - hypotrichosis - sclerosing cholangitis
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:59303	"" []	1160774	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Ichthyosis - hypotrichosis - sclerosing cholangitis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59303	"" []	2044199	\N	\N	EFO	4	EFO	disease	Ichthyosis - hypotrichosis - sclerosing cholangitis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59303	"" []	6152302	\N	\N	EFO	8	EFO	disease	Ichthyosis - hypotrichosis - sclerosing cholangitis
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:59303	"" []	2044201	\N	\N	EFO	4	EFO	Inherited ichthyosis	Ichthyosis - hypotrichosis - sclerosing cholangitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:59303	"" []	6378963	\N	\N	EFO	9	EFO	disposition	Ichthyosis - hypotrichosis - sclerosing cholangitis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:59303	"" []	3194355	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Ichthyosis - hypotrichosis - sclerosing cholangitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:59303	"" []	6778793	\N	\N	EFO	10	EFO	material property	Ichthyosis - hypotrichosis - sclerosing cholangitis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:59303	"" []	4400446	\N	\N	EFO	6	EFO	Rare genetic skin disease	Ichthyosis - hypotrichosis - sclerosing cholangitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:59303	"" []	7029986	\N	\N	EFO	11	EFO	experimental factor	Ichthyosis - hypotrichosis - sclerosing cholangitis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:59303	"" []	5417110	\N	\N	EFO	7	EFO	genetic disorder	Ichthyosis - hypotrichosis - sclerosing cholangitis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:59303	"" []	5417111	\N	\N	EFO	7	EFO	skin disease	Ichthyosis - hypotrichosis - sclerosing cholangitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59303	"" []	6152303	\N	\N	EFO	8	EFO	disease	Ichthyosis - hypotrichosis - sclerosing cholangitis
Orphanet:59305	\N	\N	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	Orphanet:59305	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	77539	\N	\N	EFO	0	EFO	Gestational trophoblastic neoplasm	Gestational trophoblastic neoplasm
EFO:0003863	Orphanet:59305	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:59305	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	221513	\N	\N	EFO	1	EFO	urogenital neoplasm	Gestational trophoblastic neoplasm
Orphanet:183731	Orphanet:59305	\N	"" []	Orphanet:59305	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	221514	\N	\N	EFO	1	EFO	Rare genetic gynecological and obstetrical diseases	Gestational trophoblastic neoplasm
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:59305	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	577437	\N	\N	EFO	2	EFO	neoplasm	Gestational trophoblastic neoplasm
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:59305	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	577438	\N	\N	EFO	2	EFO	genetic disorder	Gestational trophoblastic neoplasm
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:59305	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	577439	\N	\N	EFO	2	EFO	reproductive system disease	Gestational trophoblastic neoplasm
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59305	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	1160775	\N	\N	EFO	3	EFO	disease	Gestational trophoblastic neoplasm
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59305	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	1160776	\N	\N	EFO	3	EFO	disease	Gestational trophoblastic neoplasm
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59305	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	1160777	\N	\N	EFO	3	EFO	disease	Gestational trophoblastic neoplasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:59305	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	2044202	\N	\N	EFO	4	EFO	disposition	Gestational trophoblastic neoplasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:59305	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	3194356	\N	\N	EFO	5	EFO	material property	Gestational trophoblastic neoplasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:59305	"Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms)." []	4400447	\N	\N	EFO	6	EFO	experimental factor	Gestational trophoblastic neoplasm
Orphanet:59306	\N	\N	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	77540	\N	\N	EFO	0	EFO	McLeod neuroacanthocytosis syndrome	McLeod neuroacanthocytosis syndrome
Orphanet:217619	Orphanet:59306	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	221515	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	McLeod neuroacanthocytosis syndrome
Orphanet:263440	Orphanet:59306	\N	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	221516	\N	\N	EFO	1	EFO	Neuroacanthocytosis	McLeod neuroacanthocytosis syndrome
Orphanet:68385	Orphanet:59306	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	221517	\N	\N	EFO	1	EFO	Neurometabolic disease	McLeod neuroacanthocytosis syndrome
Orphanet:98366	Orphanet:59306	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	221518	\N	\N	EFO	1	EFO	Constitutional hemolytic anemia due to acanthocytosis	McLeod neuroacanthocytosis syndrome
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	577440	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	McLeod neuroacanthocytosis syndrome
Orphanet:158266	Orphanet:263440	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	577441	\N	\N	EFO	2	EFO	Huntington disease-like syndrome	McLeod neuroacanthocytosis syndrome
Orphanet:307058	Orphanet:263440	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	577442	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	McLeod neuroacanthocytosis syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	577443	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	McLeod neuroacanthocytosis syndrome
Orphanet:98364	Orphanet:98366	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	577444	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	McLeod neuroacanthocytosis syndrome
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	1160778	\N	\N	EFO	3	EFO	cardiomyopathy	McLeod neuroacanthocytosis syndrome
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	1160779	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	McLeod neuroacanthocytosis syndrome
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	1160780	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	McLeod neuroacanthocytosis syndrome
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	1160781	\N	\N	EFO	3	EFO	neurodegenerative disease	McLeod neuroacanthocytosis syndrome
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	1160782	\N	\N	EFO	3	EFO	Rare genetic movement disorder	McLeod neuroacanthocytosis syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	3194361	\N	\N	EFO	5	EFO	genetic disorder	McLeod neuroacanthocytosis syndrome
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	1160784	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	McLeod neuroacanthocytosis syndrome
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	2044203	\N	\N	EFO	4	EFO	heart disease	McLeod neuroacanthocytosis syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	2044204	\N	\N	EFO	4	EFO	genetic disorder	McLeod neuroacanthocytosis syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	2044205	\N	\N	EFO	4	EFO	heart disease	McLeod neuroacanthocytosis syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	2044206	\N	\N	EFO	4	EFO	neurodegenerative disease	McLeod neuroacanthocytosis syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	2044207	\N	\N	EFO	4	EFO	brain disease	McLeod neuroacanthocytosis syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	2044208	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	McLeod neuroacanthocytosis syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	3194359	\N	\N	EFO	5	EFO	nervous system disease	McLeod neuroacanthocytosis syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	2044210	\N	\N	EFO	4	EFO	movement disorder	McLeod neuroacanthocytosis syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	2044211	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	McLeod neuroacanthocytosis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	5417113	\N	\N	EFO	7	EFO	disease	McLeod neuroacanthocytosis syndrome
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	2044213	\N	\N	EFO	4	EFO	Rare constitutional anemia	McLeod neuroacanthocytosis syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	3194357	\N	\N	EFO	5	EFO	cardiovascular disease	McLeod neuroacanthocytosis syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	3194360	\N	\N	EFO	5	EFO	nervous system disease	McLeod neuroacanthocytosis syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	4134190	\N	\N	EFO	6	EFO	disease	McLeod neuroacanthocytosis syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	3194363	\N	\N	EFO	5	EFO	nervous system disease	McLeod neuroacanthocytosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	5817800	\N	\N	EFO	8	EFO	disposition	McLeod neuroacanthocytosis syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	3194365	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	McLeod neuroacanthocytosis syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	4400448	\N	\N	EFO	6	EFO	disease	McLeod neuroacanthocytosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	6410282	\N	\N	EFO	9	EFO	material property	McLeod neuroacanthocytosis syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	4400450	\N	\N	EFO	6	EFO	genetic disorder	McLeod neuroacanthocytosis syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	4400451	\N	\N	EFO	6	EFO	hematological system disease	McLeod neuroacanthocytosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	6808111	\N	\N	EFO	10	EFO	experimental factor	McLeod neuroacanthocytosis syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:59306	"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." []	5417114	\N	\N	EFO	7	EFO	disease	McLeod neuroacanthocytosis syndrome
Orphanet:595	\N	\N	"" []	Orphanet:595	"" []	77541	\N	\N	EFO	0	EFO	Centronuclear myopathy	Centronuclear myopathy
Orphanet:97245	Orphanet:595	\N	"" []	Orphanet:595	"" []	221519	\N	\N	EFO	1	EFO	Congenital myopathy	Centronuclear myopathy
Orphanet:98578	Orphanet:595	\N	"" []	Orphanet:595	"" []	221520	\N	\N	EFO	1	EFO	Ptosis	Centronuclear myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:595	"" []	577445	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Centronuclear myopathy
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:595	"" []	577446	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Centronuclear myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:595	"" []	1160785	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Centronuclear myopathy
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:595	"" []	1160786	\N	\N	EFO	3	EFO	Rare palpebral disease	Centronuclear myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:595	"" []	2044214	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Centronuclear myopathy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:595	"" []	2044215	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Centronuclear myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:595	"" []	3194366	\N	\N	EFO	5	EFO	muscular disease	Centronuclear myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:595	"" []	3194367	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Centronuclear myopathy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:595	"" []	3194368	\N	\N	EFO	5	EFO	Rare genetic eye disease	Centronuclear myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:595	"" []	4400452	\N	\N	EFO	6	EFO	skeletal system disease	Centronuclear myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:595	"" []	4400453	\N	\N	EFO	6	EFO	genetic disorder	Centronuclear myopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:595	"" []	4400454	\N	\N	EFO	6	EFO	genetic disorder	Centronuclear myopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:595	"" []	4400455	\N	\N	EFO	6	EFO	eye disease	Centronuclear myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:595	"" []	5417115	\N	\N	EFO	7	EFO	disease	Centronuclear myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:595	"" []	5417116	\N	\N	EFO	7	EFO	disease	Centronuclear myopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:595	"" []	5417117	\N	\N	EFO	7	EFO	disease	Centronuclear myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:595	"" []	6152304	\N	\N	EFO	8	EFO	disposition	Centronuclear myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:595	"" []	6634013	\N	\N	EFO	9	EFO	material property	Centronuclear myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:595	"" []	6926212	\N	\N	EFO	10	EFO	experimental factor	Centronuclear myopathy
Orphanet:596	\N	\N	"" []	Orphanet:596	"" []	77542	\N	\N	EFO	0	EFO	X-linked centronuclear myopathy	X-linked centronuclear myopathy
Orphanet:207110	Orphanet:596	\N	"" []	Orphanet:596	"" []	221521	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of myotubularin	X-linked centronuclear myopathy
Orphanet:595	Orphanet:596	\N	"" []	Orphanet:596	"" []	221522	\N	\N	EFO	1	EFO	Centronuclear myopathy	X-linked centronuclear myopathy
Orphanet:98464	Orphanet:596	\N	"" []	Orphanet:596	"" []	221523	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked centronuclear myopathy
Orphanet:207049	Orphanet:207110	\N	"" []	Orphanet:596	"" []	577447	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	X-linked centronuclear myopathy
Orphanet:97245	Orphanet:595	\N	"" []	Orphanet:596	"" []	577448	\N	\N	EFO	2	EFO	Congenital myopathy	X-linked centronuclear myopathy
Orphanet:98578	Orphanet:595	\N	"" []	Orphanet:596	"" []	577449	\N	\N	EFO	2	EFO	Ptosis	X-linked centronuclear myopathy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:596	"" []	577450	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked centronuclear myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:596	"" []	1160787	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	X-linked centronuclear myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:596	"" []	1160788	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	X-linked centronuclear myopathy
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:596	"" []	1160789	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	X-linked centronuclear myopathy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:596	"" []	1160790	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked centronuclear myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:596	"" []	4400458	\N	\N	EFO	6	EFO	muscular disease	X-linked centronuclear myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:596	"" []	4400459	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	X-linked centronuclear myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:596	"" []	2044218	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	X-linked centronuclear myopathy
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:596	"" []	2044219	\N	\N	EFO	4	EFO	Rare palpebral disease	X-linked centronuclear myopathy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:596	"" []	2044220	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked centronuclear myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:596	"" []	5060163	\N	\N	EFO	7	EFO	skeletal system disease	X-linked centronuclear myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:596	"" []	5060164	\N	\N	EFO	7	EFO	genetic disorder	X-linked centronuclear myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:596	"" []	3194371	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	X-linked centronuclear myopathy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:596	"" []	3194372	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	X-linked centronuclear myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:596	"" []	5877589	\N	\N	EFO	8	EFO	disease	X-linked centronuclear myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:596	"" []	5877590	\N	\N	EFO	8	EFO	disease	X-linked centronuclear myopathy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:596	"" []	4400460	\N	\N	EFO	6	EFO	Rare genetic eye disease	X-linked centronuclear myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:596	"" []	6470824	\N	\N	EFO	9	EFO	disposition	X-linked centronuclear myopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:596	"" []	5417119	\N	\N	EFO	7	EFO	genetic disorder	X-linked centronuclear myopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:596	"" []	5417120	\N	\N	EFO	7	EFO	eye disease	X-linked centronuclear myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:596	"" []	6848728	\N	\N	EFO	10	EFO	material property	X-linked centronuclear myopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:596	"" []	6152306	\N	\N	EFO	8	EFO	disease	X-linked centronuclear myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:596	"" []	7068516	\N	\N	EFO	11	EFO	experimental factor	X-linked centronuclear myopathy
Orphanet:597	\N	\N	"" []	Orphanet:597	"" []	77543	\N	\N	EFO	0	EFO	Central core disease	Central core disease
Orphanet:172976	Orphanet:597	\N	"" []	Orphanet:597	"" []	221524	\N	\N	EFO	1	EFO	Congenital myopathy with cores	Central core disease
Orphanet:97245	Orphanet:172976	\N	"" []	Orphanet:597	"" []	577451	\N	\N	EFO	2	EFO	Congenital myopathy	Central core disease
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:597	"" []	1160791	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Central core disease
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:597	"" []	2044221	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Central core disease
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:597	"" []	3194373	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Central core disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:597	"" []	4400461	\N	\N	EFO	6	EFO	muscular disease	Central core disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:597	"" []	4400462	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Central core disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:597	"" []	5417121	\N	\N	EFO	7	EFO	skeletal system disease	Central core disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:597	"" []	5417122	\N	\N	EFO	7	EFO	genetic disorder	Central core disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:597	"" []	6152307	\N	\N	EFO	8	EFO	disease	Central core disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:597	"" []	6152308	\N	\N	EFO	8	EFO	disease	Central core disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:597	"" []	6634015	\N	\N	EFO	9	EFO	disposition	Central core disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:597	"" []	6926213	\N	\N	EFO	10	EFO	material property	Central core disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:597	"" []	7099306	\N	\N	EFO	11	EFO	experimental factor	Central core disease
Orphanet:598	\N	\N	"" []	Orphanet:598	"" []	77544	\N	\N	EFO	0	EFO	Multiminicore myopathy	Multiminicore myopathy
Orphanet:172976	Orphanet:598	\N	"" []	Orphanet:598	"" []	221525	\N	\N	EFO	1	EFO	Congenital myopathy with cores	Multiminicore myopathy
Orphanet:209193	Orphanet:598	\N	"" []	Orphanet:598	"" []	221526	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of selenoprotein N1	Multiminicore myopathy
Orphanet:97245	Orphanet:172976	\N	"" []	Orphanet:598	"" []	577452	\N	\N	EFO	2	EFO	Congenital myopathy	Multiminicore myopathy
Orphanet:207049	Orphanet:209193	\N	"" []	Orphanet:598	"" []	577453	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Multiminicore myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:598	"" []	1160792	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Multiminicore myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:598	"" []	1160793	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Multiminicore myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:598	"" []	2044222	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Multiminicore myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:598	"" []	4400463	\N	\N	EFO	6	EFO	muscular disease	Multiminicore myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:598	"" []	4400464	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Multiminicore myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:598	"" []	3194374	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Multiminicore myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:598	"" []	5060165	\N	\N	EFO	7	EFO	skeletal system disease	Multiminicore myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:598	"" []	5060166	\N	\N	EFO	7	EFO	genetic disorder	Multiminicore myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:598	"" []	5877591	\N	\N	EFO	8	EFO	disease	Multiminicore myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:598	"" []	5877592	\N	\N	EFO	8	EFO	disease	Multiminicore myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:598	"" []	6470825	\N	\N	EFO	9	EFO	disposition	Multiminicore myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:598	"" []	6848729	\N	\N	EFO	10	EFO	material property	Multiminicore myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:598	"" []	7068517	\N	\N	EFO	11	EFO	experimental factor	Multiminicore myopathy
Orphanet:599	\N	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:599	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	77545	\N	\N	EFO	0	EFO	Distal myopathy	Distal myopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:599	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	221527	\N	\N	EFO	1	EFO	Genetic skeletal muscle disease	Distal myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:599	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	577454	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Distal myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:599	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	1160794	\N	\N	EFO	3	EFO	muscular disease	Distal myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:599	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	1160795	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Distal myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:599	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	2044225	\N	\N	EFO	4	EFO	skeletal system disease	Distal myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:599	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	2044226	\N	\N	EFO	4	EFO	genetic disorder	Distal myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:599	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	3194377	\N	\N	EFO	5	EFO	disease	Distal myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:599	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	3194378	\N	\N	EFO	5	EFO	disease	Distal myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:599	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	4400467	\N	\N	EFO	6	EFO	disposition	Distal myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:599	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	5417124	\N	\N	EFO	7	EFO	material property	Distal myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:599	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	6152310	\N	\N	EFO	8	EFO	experimental factor	Distal myopathy
Orphanet:6	\N	\N	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	Orphanet:6	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	77546	\N	\N	EFO	0	EFO	Isolated 3-methylcrotonyl-CoA carboxylase deficiency	Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Orphanet:79163	Orphanet:6	\N	"" []	Orphanet:6	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	221528	\N	\N	EFO	1	EFO	Classic organic aciduria	Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:6	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	577455	\N	\N	EFO	2	EFO	Organic aciduria	Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:6	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	1160796	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:6	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	2044227	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Isolated 3-methylcrotonyl-CoA carboxylase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:6	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	3194379	\N	\N	EFO	5	EFO	genetic disorder	Isolated 3-methylcrotonyl-CoA carboxylase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:6	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	3194380	\N	\N	EFO	5	EFO	metabolic disease	Isolated 3-methylcrotonyl-CoA carboxylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:6	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	4400468	\N	\N	EFO	6	EFO	disease	Isolated 3-methylcrotonyl-CoA carboxylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:6	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	4400469	\N	\N	EFO	6	EFO	disease	Isolated 3-methylcrotonyl-CoA carboxylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:6	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	5417125	\N	\N	EFO	7	EFO	disposition	Isolated 3-methylcrotonyl-CoA carboxylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:6	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	6152311	\N	\N	EFO	8	EFO	material property	Isolated 3-methylcrotonyl-CoA carboxylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:6	"3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." []	6634017	\N	\N	EFO	9	EFO	experimental factor	Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Orphanet:60	\N	\N	"" []	Orphanet:60	"" []	77547	\N	\N	EFO	0	EFO	Alpha-1-antitrypsin deficiency	Alpha-1-antitrypsin deficiency
Orphanet:101940	Orphanet:60	\N	"" []	Orphanet:60	"" []	221529	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Alpha-1-antitrypsin deficiency
Orphanet:156610	Orphanet:60	\N	"" []	Orphanet:60	"" []	221530	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Alpha-1-antitrypsin deficiency
Orphanet:91088	Orphanet:60	\N	"" []	Orphanet:60	"" []	221531	\N	\N	EFO	1	EFO	Other metabolic disease	Alpha-1-antitrypsin deficiency
Orphanet:93593	Orphanet:60	\N	"" []	Orphanet:60	"" []	221532	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Alpha-1-antitrypsin deficiency
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:60	"" []	577456	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Alpha-1-antitrypsin deficiency
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60	"" []	577457	\N	\N	EFO	2	EFO	genetic disorder	Alpha-1-antitrypsin deficiency
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:60	"" []	577458	\N	\N	EFO	2	EFO	respiratory system disease	Alpha-1-antitrypsin deficiency
Orphanet:68367	Orphanet:91088	\N	"" []	Orphanet:60	"" []	577459	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Alpha-1-antitrypsin deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:60	"" []	577460	\N	\N	EFO	2	EFO	Rare genetic renal disease	Alpha-1-antitrypsin deficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:60	"" []	1160797	\N	\N	EFO	3	EFO	digestive system disease	Alpha-1-antitrypsin deficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60	"" []	1160798	\N	\N	EFO	3	EFO	genetic disorder	Alpha-1-antitrypsin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60	"" []	2044229	\N	\N	EFO	4	EFO	disease	Alpha-1-antitrypsin deficiency
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60	"" []	1160800	\N	\N	EFO	3	EFO	disease	Alpha-1-antitrypsin deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60	"" []	1160801	\N	\N	EFO	3	EFO	genetic disorder	Alpha-1-antitrypsin deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:60	"" []	1160802	\N	\N	EFO	3	EFO	metabolic disease	Alpha-1-antitrypsin deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60	"" []	1160803	\N	\N	EFO	3	EFO	genetic disorder	Alpha-1-antitrypsin deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60	"" []	2044228	\N	\N	EFO	4	EFO	disease	Alpha-1-antitrypsin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:60	"" []	3000396	\N	\N	EFO	5	EFO	disposition	Alpha-1-antitrypsin deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60	"" []	2044231	\N	\N	EFO	4	EFO	disease	Alpha-1-antitrypsin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:60	"" []	4134192	\N	\N	EFO	6	EFO	material property	Alpha-1-antitrypsin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:60	"" []	5183104	\N	\N	EFO	7	EFO	experimental factor	Alpha-1-antitrypsin deficiency
Orphanet:600	\N	\N	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	77548	\N	\N	EFO	0	EFO	Distal myopathy with vocal cord weakness	Distal myopathy with vocal cord weakness
Orphanet:206650	Orphanet:600	\N	"" []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	221533	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Distal myopathy with vocal cord weakness
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	577461	\N	\N	EFO	2	EFO	Distal myopathy	Distal myopathy with vocal cord weakness
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	1160804	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Distal myopathy with vocal cord weakness
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	2044232	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal myopathy with vocal cord weakness
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	3194382	\N	\N	EFO	5	EFO	muscular disease	Distal myopathy with vocal cord weakness
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	3194383	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal myopathy with vocal cord weakness
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	4400471	\N	\N	EFO	6	EFO	skeletal system disease	Distal myopathy with vocal cord weakness
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	4400472	\N	\N	EFO	6	EFO	genetic disorder	Distal myopathy with vocal cord weakness
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	5417126	\N	\N	EFO	7	EFO	disease	Distal myopathy with vocal cord weakness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	5417127	\N	\N	EFO	7	EFO	disease	Distal myopathy with vocal cord weakness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	6152312	\N	\N	EFO	8	EFO	disposition	Distal myopathy with vocal cord weakness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	6634018	\N	\N	EFO	9	EFO	material property	Distal myopathy with vocal cord weakness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:600	"Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." []	6926214	\N	\N	EFO	10	EFO	experimental factor	Distal myopathy with vocal cord weakness
Orphanet:60015	\N	\N	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	77549	\N	\N	EFO	0	EFO	Parietal foramina	Parietal foramina
Orphanet:183542	Orphanet:60015	\N	"" []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	221534	\N	\N	EFO	1	EFO	Genetic cranial malformation	Parietal foramina
Orphanet:93451	Orphanet:60015	\N	"" []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	221535	\N	\N	EFO	1	EFO	Cleidocranial dysplasia and isolated cranial ossification defect	Parietal foramina
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	577462	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Parietal foramina
Orphanet:364526	Orphanet:93451	\N	"" []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	577463	\N	\N	EFO	2	EFO	Primary bone dysplasia	Parietal foramina
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	3194387	\N	\N	EFO	5	EFO	genetic disorder	Parietal foramina
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	1160806	\N	\N	EFO	3	EFO	Rare genetic bone disease	Parietal foramina
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	1160807	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Parietal foramina
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	4066970	\N	\N	EFO	6	EFO	disease	Parietal foramina
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	2044234	\N	\N	EFO	4	EFO	genetic disorder	Parietal foramina
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	2044235	\N	\N	EFO	4	EFO	bone disease	Parietal foramina
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	2044236	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Parietal foramina
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	5060167	\N	\N	EFO	7	EFO	disposition	Parietal foramina
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	3194386	\N	\N	EFO	5	EFO	skeletal system disease	Parietal foramina
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	5877593	\N	\N	EFO	8	EFO	material property	Parietal foramina
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	4400474	\N	\N	EFO	6	EFO	disease	Parietal foramina
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:60015	" 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." []	6470826	\N	\N	EFO	9	EFO	experimental factor	Parietal foramina
Orphanet:60025	\N	\N	"" []	Orphanet:60025	"" []	77550	\N	\N	EFO	0	EFO	Pulmonary alveolar microlithiasis	Pulmonary alveolar microlithiasis
Orphanet:156610	Orphanet:60025	\N	"" []	Orphanet:60025	"" []	221536	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Pulmonary alveolar microlithiasis
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60025	"" []	577464	\N	\N	EFO	2	EFO	genetic disorder	Pulmonary alveolar microlithiasis
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:60025	"" []	577465	\N	\N	EFO	2	EFO	respiratory system disease	Pulmonary alveolar microlithiasis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60025	"" []	1160808	\N	\N	EFO	3	EFO	disease	Pulmonary alveolar microlithiasis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60025	"" []	1160809	\N	\N	EFO	3	EFO	disease	Pulmonary alveolar microlithiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:60025	"" []	2044237	\N	\N	EFO	4	EFO	disposition	Pulmonary alveolar microlithiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:60025	"" []	3194388	\N	\N	EFO	5	EFO	material property	Pulmonary alveolar microlithiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:60025	"" []	4400475	\N	\N	EFO	6	EFO	experimental factor	Pulmonary alveolar microlithiasis
Orphanet:60030	\N	\N	"" []	Orphanet:60030	"" []	77551	\N	\N	EFO	0	EFO	Loeys-Dietz syndrome	Loeys-Dietz syndrome
Orphanet:284993	Orphanet:60030	\N	"" []	Orphanet:60030	"" []	221537	\N	\N	EFO	1	EFO	Marfan and Marfan-related disorder	Loeys-Dietz syndrome
Orphanet:285014	Orphanet:60030	\N	"" []	Orphanet:60030	"" []	221538	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Loeys-Dietz syndrome
Orphanet:271870	Orphanet:284993	\N	"" []	Orphanet:60030	"" []	577466	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Loeys-Dietz syndrome
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:60030	"" []	577467	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Loeys-Dietz syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60030	"" []	1160810	\N	\N	EFO	3	EFO	genetic disorder	Loeys-Dietz syndrome
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60030	"" []	1160811	\N	\N	EFO	3	EFO	genetic disorder	Loeys-Dietz syndrome
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:60030	"" []	1160812	\N	\N	EFO	3	EFO	vascular disease	Loeys-Dietz syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60030	"" []	2044238	\N	\N	EFO	4	EFO	disease	Loeys-Dietz syndrome
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:60030	"" []	2044239	\N	\N	EFO	4	EFO	cardiovascular disease	Loeys-Dietz syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:60030	"" []	4400477	\N	\N	EFO	6	EFO	disposition	Loeys-Dietz syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60030	"" []	3194390	\N	\N	EFO	5	EFO	disease	Loeys-Dietz syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:60030	"" []	5183106	\N	\N	EFO	7	EFO	material property	Loeys-Dietz syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:60030	"" []	5998457	\N	\N	EFO	8	EFO	experimental factor	Loeys-Dietz syndrome
Orphanet:60040	\N	\N	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	77552	\N	\N	EFO	0	EFO	Megalencephaly-capillary malformation-polymicrogyria syndrome	Megalencephaly-capillary malformation-polymicrogyria syndrome
Orphanet:183422	Orphanet:60040	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	221539	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Megalencephaly-capillary malformation-polymicrogyria syndrome
Orphanet:183478	Orphanet:60040	\N	"" []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	221540	\N	\N	EFO	1	EFO	Genetic skin vascular disorder	Megalencephaly-capillary malformation-polymicrogyria syndrome
Orphanet:93460	Orphanet:60040	\N	"" []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	221541	\N	\N	EFO	1	EFO	Overgrowth syndrome	Megalencephaly-capillary malformation-polymicrogyria syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	577468	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Megalencephaly-capillary malformation-polymicrogyria syndrome
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	577469	\N	\N	EFO	2	EFO	Genetic dermis disorder	Megalencephaly-capillary malformation-polymicrogyria syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	577470	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Megalencephaly-capillary malformation-polymicrogyria syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	1160813	\N	\N	EFO	3	EFO	genetic disorder	Megalencephaly-capillary malformation-polymicrogyria syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	1160814	\N	\N	EFO	3	EFO	Rare genetic skin disease	Megalencephaly-capillary malformation-polymicrogyria syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	1160815	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Megalencephaly-capillary malformation-polymicrogyria syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	3194392	\N	\N	EFO	5	EFO	disease	Megalencephaly-capillary malformation-polymicrogyria syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	2044241	\N	\N	EFO	4	EFO	genetic disorder	Megalencephaly-capillary malformation-polymicrogyria syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	2044242	\N	\N	EFO	4	EFO	skin disease	Megalencephaly-capillary malformation-polymicrogyria syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	2044243	\N	\N	EFO	4	EFO	genetic disorder	Megalencephaly-capillary malformation-polymicrogyria syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	4134194	\N	\N	EFO	6	EFO	disposition	Megalencephaly-capillary malformation-polymicrogyria syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	3194393	\N	\N	EFO	5	EFO	disease	Megalencephaly-capillary malformation-polymicrogyria syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	5183107	\N	\N	EFO	7	EFO	material property	Megalencephaly-capillary malformation-polymicrogyria syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:60040	"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." []	5998458	\N	\N	EFO	8	EFO	experimental factor	Megalencephaly-capillary malformation-polymicrogyria syndrome
Orphanet:60041	\N	\N	"" []	Orphanet:60041	"" []	77553	\N	\N	EFO	0	EFO	Congenital heart block	Congenital heart block
Orphanet:101934	Orphanet:60041	\N	"" []	Orphanet:60041	"" []	221542	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Congenital heart block
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:60041	"" []	577471	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Congenital heart block
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:60041	"" []	1160816	\N	\N	EFO	3	EFO	genetic disorder	Congenital heart block
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:60041	"" []	1160817	\N	\N	EFO	3	EFO	heart disease	Congenital heart block
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60041	"" []	2044244	\N	\N	EFO	4	EFO	disease	Congenital heart block
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:60041	"" []	2044245	\N	\N	EFO	4	EFO	cardiovascular disease	Congenital heart block
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:60041	"" []	4400480	\N	\N	EFO	6	EFO	disposition	Congenital heart block
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:60041	"" []	3194395	\N	\N	EFO	5	EFO	disease	Congenital heart block
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:60041	"" []	5183108	\N	\N	EFO	7	EFO	material property	Congenital heart block
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:60041	"" []	5998459	\N	\N	EFO	8	EFO	experimental factor	Congenital heart block
Orphanet:602	\N	\N	"" []	Orphanet:602	"" []	77554	\N	\N	EFO	0	EFO	Distal myopathy, Nonaka type	Distal myopathy, Nonaka type
Orphanet:206653	Orphanet:602	\N	"" []	Orphanet:602	"" []	221543	\N	\N	EFO	1	EFO	Autosomal recessive distal myopathy	Distal myopathy, Nonaka type
Orphanet:206662	Orphanet:602	\N	"" []	Orphanet:602	"" []	221544	\N	\N	EFO	1	EFO	Inclusion myopathy	Distal myopathy, Nonaka type
Orphanet:209203	Orphanet:602	\N	"" []	Orphanet:602	"" []	221545	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -	Distal myopathy, Nonaka type
Orphanet:309526	Orphanet:602	\N	"" []	Orphanet:602	"" []	221546	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	Distal myopathy, Nonaka type
Orphanet:371047	Orphanet:602	\N	"" []	Orphanet:602	"" []	221547	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	Distal myopathy, Nonaka type
Orphanet:599	Orphanet:206653	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:602	"" []	577472	\N	\N	EFO	2	EFO	Distal myopathy	Distal myopathy, Nonaka type
Orphanet:206656	Orphanet:206662	\N	"" []	Orphanet:602	"" []	577473	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Distal myopathy, Nonaka type
Orphanet:207049	Orphanet:209203	\N	"" []	Orphanet:602	"" []	577474	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Distal myopathy, Nonaka type
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:602	"" []	577475	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Distal myopathy, Nonaka type
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:602	"" []	577476	\N	\N	EFO	2	EFO	Neurometabolic disease	Distal myopathy, Nonaka type
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:602	"" []	1160818	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Distal myopathy, Nonaka type
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:602	"" []	1160819	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Distal myopathy, Nonaka type
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:602	"" []	1160820	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Distal myopathy, Nonaka type
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:602	"" []	1160821	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Distal myopathy, Nonaka type
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:602	"" []	1160822	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Distal myopathy, Nonaka type
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:602	"" []	2044246	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal myopathy, Nonaka type
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:602	"" []	3194396	\N	\N	EFO	5	EFO	muscular disease	Distal myopathy, Nonaka type
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:602	"" []	3194397	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal myopathy, Nonaka type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:602	"" []	2044249	\N	\N	EFO	4	EFO	genetic disorder	Distal myopathy, Nonaka type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:602	"" []	2044250	\N	\N	EFO	4	EFO	metabolic disease	Distal myopathy, Nonaka type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:602	"" []	4134196	\N	\N	EFO	6	EFO	genetic disorder	Distal myopathy, Nonaka type
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:602	"" []	4134195	\N	\N	EFO	6	EFO	skeletal system disease	Distal myopathy, Nonaka type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:602	"" []	5060168	\N	\N	EFO	7	EFO	disease	Distal myopathy, Nonaka type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:602	"" []	3194401	\N	\N	EFO	5	EFO	disease	Distal myopathy, Nonaka type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:602	"" []	5183109	\N	\N	EFO	7	EFO	disease	Distal myopathy, Nonaka type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:602	"" []	5877594	\N	\N	EFO	8	EFO	disposition	Distal myopathy, Nonaka type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:602	"" []	6470827	\N	\N	EFO	9	EFO	material property	Distal myopathy, Nonaka type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:602	"" []	6848730	\N	\N	EFO	10	EFO	experimental factor	Distal myopathy, Nonaka type
Orphanet:603	\N	\N	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	77555	\N	\N	EFO	0	EFO	Distal myopathy, Welander type	Distal myopathy, Welander type
Orphanet:206650	Orphanet:603	\N	"" []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	221548	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Distal myopathy, Welander type
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	577477	\N	\N	EFO	2	EFO	Distal myopathy	Distal myopathy, Welander type
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	1160823	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Distal myopathy, Welander type
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	2044252	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal myopathy, Welander type
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	3194402	\N	\N	EFO	5	EFO	muscular disease	Distal myopathy, Welander type
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	3194403	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal myopathy, Welander type
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	4400483	\N	\N	EFO	6	EFO	skeletal system disease	Distal myopathy, Welander type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	4400484	\N	\N	EFO	6	EFO	genetic disorder	Distal myopathy, Welander type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	5417133	\N	\N	EFO	7	EFO	disease	Distal myopathy, Welander type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	5417134	\N	\N	EFO	7	EFO	disease	Distal myopathy, Welander type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	6152314	\N	\N	EFO	8	EFO	disposition	Distal myopathy, Welander type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	6634019	\N	\N	EFO	9	EFO	material property	Distal myopathy, Welander type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:603	"Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." []	6926215	\N	\N	EFO	10	EFO	experimental factor	Distal myopathy, Welander type
Orphanet:606	\N	\N	"" []	Orphanet:606	"" []	77556	\N	\N	EFO	0	EFO	Proximal myotonic myopathy	Proximal myotonic myopathy
Orphanet:181441	Orphanet:606	\N	"" []	Orphanet:606	"" []	221549	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Proximal myotonic myopathy
Orphanet:206647	Orphanet:606	\N	"" []	Orphanet:606	"" []	221550	\N	\N	EFO	1	EFO	Myotonic dystrophy	Proximal myotonic myopathy
Orphanet:98578	Orphanet:606	\N	"" []	Orphanet:606	"" []	221551	\N	\N	EFO	1	EFO	Ptosis	Proximal myotonic myopathy
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:606	"" []	577478	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Proximal myotonic myopathy
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:606	"" []	577479	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Proximal myotonic myopathy
Orphanet:206644	Orphanet:206647	\N	"" []	Orphanet:606	"" []	577480	\N	\N	EFO	2	EFO	Progressive muscular dystrophy	Proximal myotonic myopathy
Orphanet:206970	Orphanet:206647	\N	"" []	Orphanet:606	"" []	577481	\N	\N	EFO	2	EFO	Myotonic syndrome	Proximal myotonic myopathy
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:606	"" []	577482	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Proximal myotonic myopathy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:606	"" []	1160824	\N	\N	EFO	3	EFO	genetic disorder	Proximal myotonic myopathy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:606	"" []	1160825	\N	\N	EFO	3	EFO	endocrine system disease	Proximal myotonic myopathy
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:606	"" []	1160826	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Proximal myotonic myopathy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:606	"" []	1160827	\N	\N	EFO	3	EFO	Muscular dystrophy	Proximal myotonic myopathy
Orphanet:206634	Orphanet:206970	\N	"" []	Orphanet:606	"" []	1160828	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Proximal myotonic myopathy
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:606	"" []	1160829	\N	\N	EFO	3	EFO	Rare palpebral disease	Proximal myotonic myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:606	"" []	5998462	\N	\N	EFO	8	EFO	disease	Proximal myotonic myopathy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:606	"" []	2044254	\N	\N	EFO	4	EFO	disease	Proximal myotonic myopathy
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:606	"" []	2044255	\N	\N	EFO	4	EFO	Rare genetic male infertility	Proximal myotonic myopathy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:606	"" []	2044256	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Proximal myotonic myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:606	"" []	3194406	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Proximal myotonic myopathy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:606	"" []	2044258	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Proximal myotonic myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:606	"" []	6378964	\N	\N	EFO	9	EFO	disposition	Proximal myotonic myopathy
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:606	"" []	3194405	\N	\N	EFO	5	EFO	Genetic infertility	Proximal myotonic myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:606	"" []	4134198	\N	\N	EFO	6	EFO	muscular disease	Proximal myotonic myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:606	"" []	4134199	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Proximal myotonic myopathy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:606	"" []	3194409	\N	\N	EFO	5	EFO	Rare genetic eye disease	Proximal myotonic myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:606	"" []	6778794	\N	\N	EFO	10	EFO	material property	Proximal myotonic myopathy
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:606	"" []	4400486	\N	\N	EFO	6	EFO	genetic disorder	Proximal myotonic myopathy
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:606	"" []	4400487	\N	\N	EFO	6	EFO	reproductive system disease	Proximal myotonic myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:606	"" []	5183111	\N	\N	EFO	7	EFO	skeletal system disease	Proximal myotonic myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:606	"" []	5183112	\N	\N	EFO	7	EFO	genetic disorder	Proximal myotonic myopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:606	"" []	4400490	\N	\N	EFO	6	EFO	genetic disorder	Proximal myotonic myopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:606	"" []	4400491	\N	\N	EFO	6	EFO	eye disease	Proximal myotonic myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:606	"" []	7029987	\N	\N	EFO	11	EFO	experimental factor	Proximal myotonic myopathy
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:606	"" []	5417137	\N	\N	EFO	7	EFO	disease	Proximal myotonic myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:606	"" []	5998461	\N	\N	EFO	8	EFO	disease	Proximal myotonic myopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:606	"" []	5417139	\N	\N	EFO	7	EFO	disease	Proximal myotonic myopathy
Orphanet:607	\N	\N	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	77557	\N	\N	EFO	0	EFO	Nemaline myopathy	Nemaline myopathy
Orphanet:97245	Orphanet:607	\N	"" []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	221552	\N	\N	EFO	1	EFO	Congenital myopathy	Nemaline myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	577483	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Nemaline myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	1160830	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Nemaline myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	2044259	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Nemaline myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	3194410	\N	\N	EFO	5	EFO	muscular disease	Nemaline myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	3194411	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Nemaline myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	4400492	\N	\N	EFO	6	EFO	skeletal system disease	Nemaline myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	4400493	\N	\N	EFO	6	EFO	genetic disorder	Nemaline myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	5417140	\N	\N	EFO	7	EFO	disease	Nemaline myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	5417141	\N	\N	EFO	7	EFO	disease	Nemaline myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	6152315	\N	\N	EFO	8	EFO	disposition	Nemaline myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	6634020	\N	\N	EFO	9	EFO	material property	Nemaline myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:607	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	6926216	\N	\N	EFO	10	EFO	experimental factor	Nemaline myopathy
Orphanet:609	\N	\N	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	77558	\N	\N	EFO	0	EFO	Tibial muscular dystrophy	Tibial muscular dystrophy
Orphanet:206650	Orphanet:609	\N	"" []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	221553	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Tibial muscular dystrophy
Orphanet:209053	Orphanet:609	\N	"" []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	221554	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of titin	Tibial muscular dystrophy
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	577484	\N	\N	EFO	2	EFO	Distal myopathy	Tibial muscular dystrophy
Orphanet:207049	Orphanet:209053	\N	"" []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	577485	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Tibial muscular dystrophy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	1160831	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Tibial muscular dystrophy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	1160832	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Tibial muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	2044260	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Tibial muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	3194412	\N	\N	EFO	5	EFO	muscular disease	Tibial muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	3194413	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Tibial muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	4134200	\N	\N	EFO	6	EFO	skeletal system disease	Tibial muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	4134201	\N	\N	EFO	6	EFO	genetic disorder	Tibial muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	5183113	\N	\N	EFO	7	EFO	disease	Tibial muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	5183114	\N	\N	EFO	7	EFO	disease	Tibial muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	5998463	\N	\N	EFO	8	EFO	disposition	Tibial muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	6551598	\N	\N	EFO	9	EFO	material property	Tibial muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:609	"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." []	6889494	\N	\N	EFO	10	EFO	experimental factor	Tibial muscular dystrophy
Orphanet:61	\N	\N	"" []	Orphanet:61	"" []	77559	\N	\N	EFO	0	EFO	Alpha-mannosidosis	Alpha-mannosidosis
Orphanet:217581	Orphanet:61	\N	"" []	Orphanet:61	"" []	221555	\N	\N	EFO	1	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Alpha-mannosidosis
Orphanet:68385	Orphanet:61	\N	"" []	Orphanet:61	"" []	221556	\N	\N	EFO	1	EFO	Neurometabolic disease	Alpha-mannosidosis
Orphanet:79215	Orphanet:61	\N	"" []	Orphanet:61	"" []	221557	\N	\N	EFO	1	EFO	Oligosaccharidosis	Alpha-mannosidosis
Orphanet:93448	Orphanet:61	\N	"" []	Orphanet:61	"" []	221558	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Alpha-mannosidosis
Orphanet:98644	Orphanet:61	\N	"" []	Orphanet:61	"" []	221559	\N	\N	EFO	1	EFO	Cataract associated with a metabolic disease	Alpha-mannosidosis
Orphanet:98711	Orphanet:61	\N	"" []	Orphanet:61	"" []	221560	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Alpha-mannosidosis
Orphanet:98712	Orphanet:61	\N	"" []	Orphanet:61	"" []	221561	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Alpha-mannosidosis
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:61	"" []	577486	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Alpha-mannosidosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:61	"" []	577487	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Alpha-mannosidosis
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:61	"" []	577488	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Alpha-mannosidosis
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:61	"" []	577489	\N	\N	EFO	2	EFO	Glycoproteinosis	Alpha-mannosidosis
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:61	"" []	577490	\N	\N	EFO	2	EFO	Rare genetic bone disease	Alpha-mannosidosis
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:61	"" []	577491	\N	\N	EFO	2	EFO	Systemic disease with cataract	Alpha-mannosidosis
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:61	"" []	577492	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Alpha-mannosidosis
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:61	"" []	577493	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Alpha-mannosidosis
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:61	"" []	1160833	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Alpha-mannosidosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:61	"" []	1160834	\N	\N	EFO	3	EFO	genetic disorder	Alpha-mannosidosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:61	"" []	1160835	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Alpha-mannosidosis
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:61	"" []	1160836	\N	\N	EFO	3	EFO	Lysosomal disease	Alpha-mannosidosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:61	"" []	1160837	\N	\N	EFO	3	EFO	genetic disorder	Alpha-mannosidosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:61	"" []	1160838	\N	\N	EFO	3	EFO	bone disease	Alpha-mannosidosis
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:61	"" []	1160839	\N	\N	EFO	3	EFO	Syndromic cataract	Alpha-mannosidosis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:61	"" []	1160840	\N	\N	EFO	3	EFO	Rare genetic eye disease	Alpha-mannosidosis
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:61	"" []	2044263	\N	\N	EFO	4	EFO	genetic disorder	Alpha-mannosidosis
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:61	"" []	2044264	\N	\N	EFO	4	EFO	heart disease	Alpha-mannosidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:61	"" []	5817802	\N	\N	EFO	8	EFO	disease	Alpha-mannosidosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:61	"" []	2044266	\N	\N	EFO	4	EFO	genetic disorder	Alpha-mannosidosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:61	"" []	2044267	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Alpha-mannosidosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:61	"" []	2044268	\N	\N	EFO	4	EFO	skeletal system disease	Alpha-mannosidosis
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:61	"" []	2044269	\N	\N	EFO	4	EFO	Rare cataract	Alpha-mannosidosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:61	"" []	5417144	\N	\N	EFO	7	EFO	genetic disorder	Alpha-mannosidosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:61	"" []	5417145	\N	\N	EFO	7	EFO	eye disease	Alpha-mannosidosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:61	"" []	3194417	\N	\N	EFO	5	EFO	cardiovascular disease	Alpha-mannosidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:61	"" []	6378965	\N	\N	EFO	9	EFO	disposition	Alpha-mannosidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:61	"" []	3194419	\N	\N	EFO	5	EFO	genetic disorder	Alpha-mannosidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:61	"" []	3194420	\N	\N	EFO	5	EFO	metabolic disease	Alpha-mannosidosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:61	"" []	3194421	\N	\N	EFO	5	EFO	disease	Alpha-mannosidosis
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:61	"" []	3194422	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Alpha-mannosidosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:61	"" []	5817803	\N	\N	EFO	8	EFO	disease	Alpha-mannosidosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:61	"" []	4400496	\N	\N	EFO	6	EFO	disease	Alpha-mannosidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:61	"" []	6778795	\N	\N	EFO	10	EFO	material property	Alpha-mannosidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:61	"" []	4400499	\N	\N	EFO	6	EFO	disease	Alpha-mannosidosis
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:61	"" []	4400500	\N	\N	EFO	6	EFO	Rare genetic eye disease	Alpha-mannosidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:61	"" []	7029988	\N	\N	EFO	11	EFO	experimental factor	Alpha-mannosidosis
Orphanet:610	\N	\N	"" []	Orphanet:610	"" []	77560	\N	\N	EFO	0	EFO	Bethlem myopathy	Bethlem myopathy
Orphanet:206644	Orphanet:610	\N	"" []	Orphanet:610	"" []	221562	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	Bethlem myopathy
Orphanet:207090	Orphanet:610	\N	"" []	Orphanet:610	"" []	221563	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of collagen 6	Bethlem myopathy
Orphanet:97242	Orphanet:610	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:610	"" []	221564	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Bethlem myopathy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:610	"" []	577494	\N	\N	EFO	2	EFO	Muscular dystrophy	Bethlem myopathy
Orphanet:207049	Orphanet:207090	\N	"" []	Orphanet:610	"" []	577495	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Bethlem myopathy
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:610	"" []	577496	\N	\N	EFO	2	EFO	Muscular dystrophy	Bethlem myopathy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:610	"" []	1160841	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Bethlem myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:610	"" []	1160842	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Bethlem myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:610	"" []	2044272	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Bethlem myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:610	"" []	3194424	\N	\N	EFO	5	EFO	muscular disease	Bethlem myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:610	"" []	3194425	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Bethlem myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:610	"" []	4134203	\N	\N	EFO	6	EFO	skeletal system disease	Bethlem myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:610	"" []	4134204	\N	\N	EFO	6	EFO	genetic disorder	Bethlem myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:610	"" []	5183116	\N	\N	EFO	7	EFO	disease	Bethlem myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:610	"" []	5183117	\N	\N	EFO	7	EFO	disease	Bethlem myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:610	"" []	5998465	\N	\N	EFO	8	EFO	disposition	Bethlem myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:610	"" []	6551599	\N	\N	EFO	9	EFO	material property	Bethlem myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:610	"" []	6889495	\N	\N	EFO	10	EFO	experimental factor	Bethlem myopathy
Orphanet:612	\N	\N	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	77561	\N	\N	EFO	0	EFO	Potassium-aggravated myotonia	Potassium-aggravated myotonia
Orphanet:206970	Orphanet:612	\N	"" []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	221565	\N	\N	EFO	1	EFO	Myotonic syndrome	Potassium-aggravated myotonia
Orphanet:352298	Orphanet:612	\N	"" []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	221566	\N	\N	EFO	1	EFO	Genetic muscular channelopathy	Potassium-aggravated myotonia
Orphanet:206634	Orphanet:206970	\N	"" []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	577497	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Potassium-aggravated myotonia
Orphanet:183497	Orphanet:352298	\N	"" []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	577498	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Potassium-aggravated myotonia
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	1160843	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Potassium-aggravated myotonia
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	2044275	\N	\N	EFO	4	EFO	muscular disease	Potassium-aggravated myotonia
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	2044276	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Potassium-aggravated myotonia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	3000397	\N	\N	EFO	5	EFO	skeletal system disease	Potassium-aggravated myotonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	3000398	\N	\N	EFO	5	EFO	genetic disorder	Potassium-aggravated myotonia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	4134205	\N	\N	EFO	6	EFO	disease	Potassium-aggravated myotonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	4134206	\N	\N	EFO	6	EFO	disease	Potassium-aggravated myotonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	5183118	\N	\N	EFO	7	EFO	disposition	Potassium-aggravated myotonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	5998466	\N	\N	EFO	8	EFO	material property	Potassium-aggravated myotonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:612	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	6551600	\N	\N	EFO	9	EFO	experimental factor	Potassium-aggravated myotonia
Orphanet:614	\N	\N	"" []	Orphanet:614	"" []	77562	\N	\N	EFO	0	EFO	Thomsen and Becker disease	Thomsen and Becker disease
Orphanet:206973	Orphanet:614	\N	"" []	Orphanet:614	"" []	221567	\N	\N	EFO	1	EFO	Congenital myotonia	Thomsen and Becker disease
Orphanet:352298	Orphanet:614	\N	"" []	Orphanet:614	"" []	221568	\N	\N	EFO	1	EFO	Genetic muscular channelopathy	Thomsen and Becker disease
Orphanet:206970	Orphanet:206973	\N	"" []	Orphanet:614	"" []	577499	\N	\N	EFO	2	EFO	Myotonic syndrome	Thomsen and Becker disease
Orphanet:183497	Orphanet:352298	\N	"" []	Orphanet:614	"" []	577500	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Thomsen and Becker disease
Orphanet:206634	Orphanet:206970	\N	"" []	Orphanet:614	"" []	1160846	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Thomsen and Becker disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:614	"" []	3194430	\N	\N	EFO	5	EFO	muscular disease	Thomsen and Becker disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:614	"" []	3194431	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Thomsen and Becker disease
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:614	"" []	2044279	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Thomsen and Becker disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:614	"" []	4066971	\N	\N	EFO	6	EFO	skeletal system disease	Thomsen and Becker disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:614	"" []	4066972	\N	\N	EFO	6	EFO	genetic disorder	Thomsen and Becker disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:614	"" []	5060170	\N	\N	EFO	7	EFO	disease	Thomsen and Becker disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:614	"" []	5060171	\N	\N	EFO	7	EFO	disease	Thomsen and Becker disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:614	"" []	5877596	\N	\N	EFO	8	EFO	disposition	Thomsen and Becker disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:614	"" []	6470829	\N	\N	EFO	9	EFO	material property	Thomsen and Becker disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:614	"" []	6848731	\N	\N	EFO	10	EFO	experimental factor	Thomsen and Becker disease
Orphanet:615	\N	\N	"" []	Orphanet:615	"" []	77563	\N	\N	EFO	0	EFO	Familial atrial myxoma	Familial atrial myxoma
Orphanet:271841	Orphanet:615	\N	"" []	Orphanet:615	"" []	221569	\N	\N	EFO	1	EFO	Genetic cardiac tumor	Familial atrial myxoma
EFO:0003777	Orphanet:271841	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:615	"" []	577501	\N	\N	EFO	2	EFO	heart disease	Familial atrial myxoma
Orphanet:68336	Orphanet:271841	\N	"" []	Orphanet:615	"" []	577502	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial atrial myxoma
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:615	"" []	1160849	\N	\N	EFO	3	EFO	cardiovascular disease	Familial atrial myxoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:615	"" []	1160850	\N	\N	EFO	3	EFO	genetic disorder	Familial atrial myxoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:615	"" []	1160851	\N	\N	EFO	3	EFO	neoplasm	Familial atrial myxoma
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:615	"" []	2044282	\N	\N	EFO	4	EFO	disease	Familial atrial myxoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:615	"" []	2044283	\N	\N	EFO	4	EFO	disease	Familial atrial myxoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:615	"" []	2044284	\N	\N	EFO	4	EFO	disease	Familial atrial myxoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:615	"" []	3194434	\N	\N	EFO	5	EFO	disposition	Familial atrial myxoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:615	"" []	4400505	\N	\N	EFO	6	EFO	material property	Familial atrial myxoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:615	"" []	5417149	\N	\N	EFO	7	EFO	experimental factor	Familial atrial myxoma
Orphanet:617	\N	\N	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	Orphanet:617	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	77564	\N	\N	EFO	0	EFO	Congenital primary megaureter	Congenital primary megaureter
Orphanet:357506	Orphanet:617	\N	"" []	Orphanet:617	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	221570	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Congenital primary megaureter
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:617	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	577503	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Congenital primary megaureter
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:617	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	1160852	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital primary megaureter
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:617	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	1160853	\N	\N	EFO	3	EFO	Rare genetic renal disease	Congenital primary megaureter
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:617	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	2044285	\N	\N	EFO	4	EFO	genetic disorder	Congenital primary megaureter
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:617	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	2044286	\N	\N	EFO	4	EFO	genetic disorder	Congenital primary megaureter
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:617	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	3194435	\N	\N	EFO	5	EFO	disease	Congenital primary megaureter
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:617	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	4400506	\N	\N	EFO	6	EFO	disposition	Congenital primary megaureter
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:617	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	5417150	\N	\N	EFO	7	EFO	material property	Congenital primary megaureter
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:617	"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." []	6152320	\N	\N	EFO	8	EFO	experimental factor	Congenital primary megaureter
Orphanet:618	\N	\N	"" []	Orphanet:618	"" []	77565	\N	\N	EFO	0	EFO	Familial melanoma	Familial melanoma
Orphanet:183487	Orphanet:618	\N	"" []	Orphanet:618	"" []	221571	\N	\N	EFO	1	EFO	Genetic skin tumor	Familial melanoma
Orphanet:98589	Orphanet:618	\N	"" []	Orphanet:618	"" []	221572	\N	\N	EFO	1	EFO	Palpebral malignant melanoma	Familial melanoma
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:618	"" []	577504	\N	\N	EFO	2	EFO	skin neoplasm	Familial melanoma
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:618	"" []	577505	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial melanoma
Orphanet:98586	Orphanet:98589	\N	"" []	Orphanet:618	"" []	577506	\N	\N	EFO	2	EFO	Pigmented palpebral tumor	Familial melanoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:618	"" []	1160854	\N	\N	EFO	3	EFO	neoplasm	Familial melanoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:618	"" []	1160855	\N	\N	EFO	3	EFO	skin disease	Familial melanoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:618	"" []	1160856	\N	\N	EFO	3	EFO	genetic disorder	Familial melanoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:618	"" []	1160857	\N	\N	EFO	3	EFO	neoplasm	Familial melanoma
Orphanet:98580	Orphanet:98586	\N	"" []	Orphanet:618	"" []	1160858	\N	\N	EFO	3	EFO	Palpebral tumor	Familial melanoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:618	"" []	2044287	\N	\N	EFO	4	EFO	disease	Familial melanoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:618	"" []	2044288	\N	\N	EFO	4	EFO	disease	Familial melanoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:618	"" []	6152321	\N	\N	EFO	8	EFO	disease	Familial melanoma
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:618	"" []	2044290	\N	\N	EFO	4	EFO	Rare palpebral disease	Familial melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:618	"" []	6378966	\N	\N	EFO	9	EFO	disposition	Familial melanoma
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:618	"" []	3194437	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Familial melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:618	"" []	6778796	\N	\N	EFO	10	EFO	material property	Familial melanoma
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:618	"" []	4400508	\N	\N	EFO	6	EFO	Rare genetic eye disease	Familial melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:618	"" []	7029989	\N	\N	EFO	11	EFO	experimental factor	Familial melanoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:618	"" []	5417152	\N	\N	EFO	7	EFO	genetic disorder	Familial melanoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:618	"" []	5417153	\N	\N	EFO	7	EFO	eye disease	Familial melanoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:618	"" []	6152322	\N	\N	EFO	8	EFO	disease	Familial melanoma
Orphanet:62	\N	\N	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	77566	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2D	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:102015	Orphanet:62	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	221573	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:207060	Orphanet:62	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	221574	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of alpha-sarcoglycan	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:217610	Orphanet:62	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	221575	\N	\N	EFO	1	EFO	Neuromuscular disease with dilated cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	577507	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:207052	Orphanet:207060	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	577508	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of sarcoglycan	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	577509	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	1160859	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:207049	Orphanet:207052	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	1160860	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2D
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	1160861	\N	\N	EFO	3	EFO	cardiomyopathy	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	1160862	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	2044291	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	2044292	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2D
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	2044293	\N	\N	EFO	4	EFO	heart disease	Autosomal recessive limb-girdle muscular dystrophy type 2D
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	2044294	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2D
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	2044295	\N	\N	EFO	4	EFO	heart disease	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	3194438	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2D
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	5417154	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	5417155	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2D
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	3194441	\N	\N	EFO	5	EFO	cardiovascular disease	Autosomal recessive limb-girdle muscular dystrophy type 2D
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	6470831	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	4400509	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2D
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	5877597	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2D
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	5877598	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2D
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	4400512	\N	\N	EFO	6	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2D
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	6778797	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2D
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	6470830	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2D
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	7029990	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2D
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:62	"Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." []	7181816	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2D
Orphanet:620	\N	\N	"" []	Orphanet:620	"" []	77567	\N	\N	EFO	0	EFO	Common mesentery	Common mesentery
Orphanet:108967	Orphanet:620	\N	"" []	Orphanet:620	"" []	221576	\N	\N	EFO	1	EFO	Non-syndromic intestinal malformation	Common mesentery
Orphanet:97945	Orphanet:108967	\N	"" []	Orphanet:620	"" []	577510	\N	\N	EFO	2	EFO	Intestinal malformation	Common mesentery
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:620	"" []	1160863	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Common mesentery
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:620	"" []	2044296	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Common mesentery
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:620	"" []	3194443	\N	\N	EFO	5	EFO	genetic disorder	Common mesentery
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:620	"" []	4400514	\N	\N	EFO	6	EFO	disease	Common mesentery
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:620	"" []	5417160	\N	\N	EFO	7	EFO	disposition	Common mesentery
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:620	"" []	6152324	\N	\N	EFO	8	EFO	material property	Common mesentery
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:620	"" []	6634023	\N	\N	EFO	9	EFO	experimental factor	Common mesentery
Orphanet:621	\N	\N	"" []	Orphanet:621	"" []	77568	\N	\N	EFO	0	EFO	Hereditary methemoglobinemia	Hereditary methemoglobinemia
Orphanet:68364	Orphanet:621	\N	"" []	Orphanet:621	"" []	221577	\N	\N	EFO	1	EFO	Hemoglobinopathy	Hereditary methemoglobinemia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:621	"" []	577511	\N	\N	EFO	2	EFO	Rare constitutional anemia	Hereditary methemoglobinemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:621	"" []	1160864	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Hereditary methemoglobinemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:621	"" []	2044297	\N	\N	EFO	4	EFO	genetic disorder	Hereditary methemoglobinemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:621	"" []	2044298	\N	\N	EFO	4	EFO	hematological system disease	Hereditary methemoglobinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:621	"" []	3194444	\N	\N	EFO	5	EFO	disease	Hereditary methemoglobinemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:621	"" []	3194445	\N	\N	EFO	5	EFO	disease	Hereditary methemoglobinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:621	"" []	4400515	\N	\N	EFO	6	EFO	disposition	Hereditary methemoglobinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:621	"" []	5417161	\N	\N	EFO	7	EFO	material property	Hereditary methemoglobinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:621	"" []	6152325	\N	\N	EFO	8	EFO	experimental factor	Hereditary methemoglobinemia
Orphanet:622	\N	\N	"v1)." []	Orphanet:622	"v1)." []	77569	\N	\N	EFO	0	EFO	Homocystinuria without methylmalonic aciduria	Homocystinuria without methylmalonic aciduria
Orphanet:68385	Orphanet:622	\N	"" []	Orphanet:622	"v1)." []	221578	\N	\N	EFO	1	EFO	Neurometabolic disease	Homocystinuria without methylmalonic aciduria
Orphanet:79171	Orphanet:622	\N	"" []	Orphanet:622	"v1)." []	221579	\N	\N	EFO	1	EFO	Disorder of cobalamin metabolism and transport	Homocystinuria without methylmalonic aciduria
Orphanet:79173	Orphanet:622	\N	"" []	Orphanet:622	"v1)." []	221580	\N	\N	EFO	1	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Homocystinuria without methylmalonic aciduria
Orphanet:98396	Orphanet:622	\N	"" []	Orphanet:622	"v1)." []	221581	\N	\N	EFO	1	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Homocystinuria without methylmalonic aciduria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:622	"v1)." []	577512	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Homocystinuria without methylmalonic aciduria
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:622	"v1)." []	577513	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Homocystinuria without methylmalonic aciduria
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:622	"v1)." []	577514	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Homocystinuria without methylmalonic aciduria
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:622	"v1)." []	577515	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Homocystinuria without methylmalonic aciduria
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:622	"v1)." []	577516	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Homocystinuria without methylmalonic aciduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:622	"v1)." []	1160865	\N	\N	EFO	3	EFO	genetic disorder	Homocystinuria without methylmalonic aciduria
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:622	"v1)." []	1160866	\N	\N	EFO	3	EFO	metabolic disease	Homocystinuria without methylmalonic aciduria
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:622	"v1)." []	1160867	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Homocystinuria without methylmalonic aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:622	"v1)." []	1160868	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Homocystinuria without methylmalonic aciduria
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:622	"v1)." []	1160869	\N	\N	EFO	3	EFO	Rare constitutional anemia	Homocystinuria without methylmalonic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:622	"v1)." []	4134208	\N	\N	EFO	6	EFO	disease	Homocystinuria without methylmalonic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:622	"v1)." []	4134209	\N	\N	EFO	6	EFO	disease	Homocystinuria without methylmalonic aciduria
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:622	"v1)." []	2044301	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Homocystinuria without methylmalonic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:622	"v1)." []	3194447	\N	\N	EFO	5	EFO	genetic disorder	Homocystinuria without methylmalonic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:622	"v1)." []	3194448	\N	\N	EFO	5	EFO	metabolic disease	Homocystinuria without methylmalonic aciduria
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:622	"v1)." []	2044304	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Homocystinuria without methylmalonic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:622	"v1)." []	5060172	\N	\N	EFO	7	EFO	disposition	Homocystinuria without methylmalonic aciduria
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:622	"v1)." []	3194451	\N	\N	EFO	5	EFO	genetic disorder	Homocystinuria without methylmalonic aciduria
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:622	"v1)." []	3194452	\N	\N	EFO	5	EFO	hematological system disease	Homocystinuria without methylmalonic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:622	"v1)." []	5877600	\N	\N	EFO	8	EFO	material property	Homocystinuria without methylmalonic aciduria
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:622	"v1)." []	4400517	\N	\N	EFO	6	EFO	disease	Homocystinuria without methylmalonic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:622	"v1)." []	6470833	\N	\N	EFO	9	EFO	experimental factor	Homocystinuria without methylmalonic aciduria
Orphanet:624	\N	\N	"" []	Orphanet:624	"" []	77570	\N	\N	EFO	0	EFO	Familial multiple nevi flammei	Familial multiple nevi flammei
Orphanet:183478	Orphanet:624	\N	"" []	Orphanet:624	"" []	221582	\N	\N	EFO	1	EFO	Genetic skin vascular disorder	Familial multiple nevi flammei
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:624	"" []	577517	\N	\N	EFO	2	EFO	Genetic dermis disorder	Familial multiple nevi flammei
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:624	"" []	1160870	\N	\N	EFO	3	EFO	Rare genetic skin disease	Familial multiple nevi flammei
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:624	"" []	2044305	\N	\N	EFO	4	EFO	genetic disorder	Familial multiple nevi flammei
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:624	"" []	2044306	\N	\N	EFO	4	EFO	skin disease	Familial multiple nevi flammei
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:624	"" []	3194453	\N	\N	EFO	5	EFO	disease	Familial multiple nevi flammei
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:624	"" []	3194454	\N	\N	EFO	5	EFO	disease	Familial multiple nevi flammei
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:624	"" []	4400518	\N	\N	EFO	6	EFO	disposition	Familial multiple nevi flammei
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:624	"" []	5417163	\N	\N	EFO	7	EFO	material property	Familial multiple nevi flammei
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:624	"" []	6152326	\N	\N	EFO	8	EFO	experimental factor	Familial multiple nevi flammei
Orphanet:626	\N	\N	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	77571	\N	\N	EFO	0	EFO	Large congenital melanocytic nevus	Large congenital melanocytic nevus
Orphanet:183487	Orphanet:626	\N	"" []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	221583	\N	\N	EFO	1	EFO	Genetic skin tumor	Large congenital melanocytic nevus
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	577518	\N	\N	EFO	2	EFO	skin neoplasm	Large congenital melanocytic nevus
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	577519	\N	\N	EFO	2	EFO	Rare genetic tumor	Large congenital melanocytic nevus
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	1160871	\N	\N	EFO	3	EFO	neoplasm	Large congenital melanocytic nevus
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	1160872	\N	\N	EFO	3	EFO	skin disease	Large congenital melanocytic nevus
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	1160873	\N	\N	EFO	3	EFO	genetic disorder	Large congenital melanocytic nevus
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	1160874	\N	\N	EFO	3	EFO	neoplasm	Large congenital melanocytic nevus
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	2044307	\N	\N	EFO	4	EFO	disease	Large congenital melanocytic nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	2044308	\N	\N	EFO	4	EFO	disease	Large congenital melanocytic nevus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	2044309	\N	\N	EFO	4	EFO	disease	Large congenital melanocytic nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	3194455	\N	\N	EFO	5	EFO	disposition	Large congenital melanocytic nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	4400519	\N	\N	EFO	6	EFO	material property	Large congenital melanocytic nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:626	"A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." []	5417164	\N	\N	EFO	7	EFO	experimental factor	Large congenital melanocytic nevus
Orphanet:627	\N	\N	"" []	Orphanet:627	"" []	77572	\N	\N	EFO	0	EFO	Nance-Horan syndrome	Nance-Horan syndrome
Orphanet:183580	Orphanet:627	\N	"" []	Orphanet:627	"" []	221584	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Nance-Horan syndrome
Orphanet:330197	Orphanet:627	\N	"" []	Orphanet:627	"" []	221585	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Nance-Horan syndrome
Orphanet:98464	Orphanet:627	\N	"" []	Orphanet:627	"" []	221586	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Nance-Horan syndrome
Orphanet:98649	Orphanet:627	\N	"" []	Orphanet:627	"" []	221587	\N	\N	EFO	1	EFO	Dentocutaneous disease with cataract	Nance-Horan syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:627	"" []	577520	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Nance-Horan syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:627	"" []	577521	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Nance-Horan syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:627	"" []	577522	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Nance-Horan syndrome
Orphanet:98643	Orphanet:98649	\N	"" []	Orphanet:627	"" []	577523	\N	\N	EFO	2	EFO	Systemic disease with cataract	Nance-Horan syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:627	"" []	2044311	\N	\N	EFO	4	EFO	genetic disorder	Nance-Horan syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:627	"" []	1160876	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Nance-Horan syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:627	"" []	1160877	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Nance-Horan syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:627	"" []	1160878	\N	\N	EFO	3	EFO	Syndromic cataract	Nance-Horan syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:627	"" []	6152327	\N	\N	EFO	8	EFO	disease	Nance-Horan syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:627	"" []	2044312	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Nance-Horan syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:627	"" []	2044313	\N	\N	EFO	4	EFO	Rare cataract	Nance-Horan syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:627	"" []	6378967	\N	\N	EFO	9	EFO	disposition	Nance-Horan syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:627	"" []	3194457	\N	\N	EFO	5	EFO	genetic disorder	Nance-Horan syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:627	"" []	3194458	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Nance-Horan syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:627	"" []	6778798	\N	\N	EFO	10	EFO	material property	Nance-Horan syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:627	"" []	4400522	\N	\N	EFO	6	EFO	Rare genetic eye disease	Nance-Horan syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:627	"" []	7029991	\N	\N	EFO	11	EFO	experimental factor	Nance-Horan syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:627	"" []	5417166	\N	\N	EFO	7	EFO	genetic disorder	Nance-Horan syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:627	"" []	5417167	\N	\N	EFO	7	EFO	eye disease	Nance-Horan syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:627	"" []	6152328	\N	\N	EFO	8	EFO	disease	Nance-Horan syndrome
Orphanet:628	\N	\N	"" []	Orphanet:628	"" []	77573	\N	\N	EFO	0	EFO	Diastrophic dwarfism	Diastrophic dwarfism
Orphanet:364536	Orphanet:628	\N	"" []	Orphanet:628	"" []	221588	\N	\N	EFO	1	EFO	Primary bone dysplasia with micromelia	Diastrophic dwarfism
Orphanet:93423	Orphanet:628	\N	"" []	Orphanet:628	"" []	221589	\N	\N	EFO	1	EFO	Sulfation-related bone disorder	Diastrophic dwarfism
Orphanet:364526	Orphanet:364536	\N	"" []	Orphanet:628	"" []	577524	\N	\N	EFO	2	EFO	Primary bone dysplasia	Diastrophic dwarfism
Orphanet:364803	Orphanet:93423	\N	"" []	Orphanet:628	"" []	577525	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Diastrophic dwarfism
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:628	"" []	1160879	\N	\N	EFO	3	EFO	Rare genetic bone disease	Diastrophic dwarfism
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:628	"" []	1160880	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Diastrophic dwarfism
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:628	"" []	1160881	\N	\N	EFO	3	EFO	Rare genetic bone disease	Diastrophic dwarfism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:628	"" []	2044314	\N	\N	EFO	4	EFO	genetic disorder	Diastrophic dwarfism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:628	"" []	2044315	\N	\N	EFO	4	EFO	bone disease	Diastrophic dwarfism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:628	"" []	2044316	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Diastrophic dwarfism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:628	"" []	4400525	\N	\N	EFO	6	EFO	disease	Diastrophic dwarfism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:628	"" []	3194460	\N	\N	EFO	5	EFO	skeletal system disease	Diastrophic dwarfism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:628	"" []	3194461	\N	\N	EFO	5	EFO	genetic disorder	Diastrophic dwarfism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:628	"" []	5183121	\N	\N	EFO	7	EFO	disposition	Diastrophic dwarfism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:628	"" []	4400524	\N	\N	EFO	6	EFO	disease	Diastrophic dwarfism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:628	"" []	5998470	\N	\N	EFO	8	EFO	material property	Diastrophic dwarfism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:628	"" []	6551602	\N	\N	EFO	9	EFO	experimental factor	Diastrophic dwarfism
Orphanet:629	\N	\N	"" []	Orphanet:629	"" []	77574	\N	\N	EFO	0	EFO	Short stature due to growth hormone qualitative anomaly	Short stature due to growth hormone qualitative anomaly
Orphanet:631	Orphanet:629	\N	"" []	Orphanet:629	"" []	221590	\N	\N	EFO	1	EFO	Non-acquired isolated growth hormone deficiency	Short stature due to growth hormone qualitative anomaly
Orphanet:95488	Orphanet:631	\N	"" []	Orphanet:629	"" []	577526	\N	\N	EFO	2	EFO	Non-acquired pituitary hormone deficiency	Short stature due to growth hormone qualitative anomaly
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:629	"" []	1160882	\N	\N	EFO	3	EFO	Pituitary deficiency	Short stature due to growth hormone qualitative anomaly
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:629	"" []	2044317	\N	\N	EFO	4	EFO	Rare genetic hypothalamic or pituitary disease	Short stature due to growth hormone qualitative anomaly
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:629	"" []	3194462	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Short stature due to growth hormone qualitative anomaly
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:629	"" []	4400526	\N	\N	EFO	6	EFO	genetic disorder	Short stature due to growth hormone qualitative anomaly
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:629	"" []	4400527	\N	\N	EFO	6	EFO	endocrine system disease	Short stature due to growth hormone qualitative anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:629	"" []	5417169	\N	\N	EFO	7	EFO	disease	Short stature due to growth hormone qualitative anomaly
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:629	"" []	5417170	\N	\N	EFO	7	EFO	disease	Short stature due to growth hormone qualitative anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:629	"" []	6152330	\N	\N	EFO	8	EFO	disposition	Short stature due to growth hormone qualitative anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:629	"" []	6634024	\N	\N	EFO	9	EFO	material property	Short stature due to growth hormone qualitative anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:629	"" []	6926217	\N	\N	EFO	10	EFO	experimental factor	Short stature due to growth hormone qualitative anomaly
Orphanet:63	\N	\N	"" []	Orphanet:63	"" []	77575	\N	\N	EFO	0	EFO	Alport syndrome	Alport syndrome
Orphanet:90642	Orphanet:63	\N	"" []	Orphanet:63	"" []	221591	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Alport syndrome
Orphanet:93550	Orphanet:63	\N	"" []	Orphanet:63	"" []	221592	\N	\N	EFO	1	EFO	Basement membrane disease	Alport syndrome
Orphanet:98646	Orphanet:63	\N	"" []	Orphanet:63	"" []	221593	\N	\N	EFO	1	EFO	Renal disease with cataract	Alport syndrome
Orphanet:98655	Orphanet:63	\N	"" []	Orphanet:63	"" []	221594	\N	\N	EFO	1	EFO	Lens shape anomaly	Alport syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:63	"" []	577527	\N	\N	EFO	2	EFO	Rare genetic deafness	Alport syndrome
Orphanet:183586	Orphanet:93550	\N	"" []	Orphanet:63	"" []	577528	\N	\N	EFO	2	EFO	Genetic glomerular disease	Alport syndrome
Orphanet:98643	Orphanet:98646	\N	"" []	Orphanet:63	"" []	577529	\N	\N	EFO	2	EFO	Systemic disease with cataract	Alport syndrome
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:63	"" []	577530	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Alport syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63	"" []	1160883	\N	\N	EFO	3	EFO	genetic disorder	Alport syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:63	"" []	1160884	\N	\N	EFO	3	EFO	auditory system disease	Alport syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:63	"" []	1160885	\N	\N	EFO	3	EFO	Rare genetic renal disease	Alport syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:63	"" []	1160886	\N	\N	EFO	3	EFO	Syndromic cataract	Alport syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:63	"" []	4400530	\N	\N	EFO	6	EFO	Rare genetic eye disease	Alport syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63	"" []	5817804	\N	\N	EFO	8	EFO	disease	Alport syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:63	"" []	2044319	\N	\N	EFO	4	EFO	sensory system disease	Alport syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63	"" []	2044320	\N	\N	EFO	4	EFO	genetic disorder	Alport syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:63	"" []	2044321	\N	\N	EFO	4	EFO	Rare cataract	Alport syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63	"" []	5028466	\N	\N	EFO	7	EFO	genetic disorder	Alport syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:63	"" []	5028467	\N	\N	EFO	7	EFO	eye disease	Alport syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:63	"" []	6378968	\N	\N	EFO	9	EFO	disposition	Alport syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:63	"" []	3194464	\N	\N	EFO	5	EFO	nervous system disease	Alport syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:63	"" []	3194466	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Alport syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63	"" []	5817805	\N	\N	EFO	8	EFO	disease	Alport syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:63	"" []	6778799	\N	\N	EFO	10	EFO	material property	Alport syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63	"" []	4400529	\N	\N	EFO	6	EFO	disease	Alport syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:63	"" []	7029992	\N	\N	EFO	11	EFO	experimental factor	Alport syndrome
Orphanet:631	\N	\N	"" []	Orphanet:631	"" []	77576	\N	\N	EFO	0	EFO	Non-acquired isolated growth hormone deficiency	Non-acquired isolated growth hormone deficiency
Orphanet:95488	Orphanet:631	\N	"" []	Orphanet:631	"" []	221595	\N	\N	EFO	1	EFO	Non-acquired pituitary hormone deficiency	Non-acquired isolated growth hormone deficiency
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:631	"" []	577531	\N	\N	EFO	2	EFO	Pituitary deficiency	Non-acquired isolated growth hormone deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:631	"" []	1160888	\N	\N	EFO	3	EFO	Rare genetic hypothalamic or pituitary disease	Non-acquired isolated growth hormone deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:631	"" []	2044324	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Non-acquired isolated growth hormone deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:631	"" []	3194468	\N	\N	EFO	5	EFO	genetic disorder	Non-acquired isolated growth hormone deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:631	"" []	3194469	\N	\N	EFO	5	EFO	endocrine system disease	Non-acquired isolated growth hormone deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:631	"" []	4400531	\N	\N	EFO	6	EFO	disease	Non-acquired isolated growth hormone deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:631	"" []	4400532	\N	\N	EFO	6	EFO	disease	Non-acquired isolated growth hormone deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:631	"" []	5417173	\N	\N	EFO	7	EFO	disposition	Non-acquired isolated growth hormone deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:631	"" []	6152331	\N	\N	EFO	8	EFO	material property	Non-acquired isolated growth hormone deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:631	"" []	6634025	\N	\N	EFO	9	EFO	experimental factor	Non-acquired isolated growth hormone deficiency
Orphanet:632	\N	\N	"" []	Orphanet:632	"" []	77577	\N	\N	EFO	0	EFO	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:229720	Orphanet:632	\N	"" []	Orphanet:632	"" []	221596	\N	\N	EFO	1	EFO	Syndromic agammaglobulinemia	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:231692	Orphanet:632	\N	"" []	Orphanet:632	"" []	221597	\N	\N	EFO	1	EFO	Isolated growth hormone deficiency type III	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:183669	Orphanet:229720	\N	"" []	Orphanet:632	"" []	577532	\N	\N	EFO	2	EFO	Agammaglobulinemia	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:631	Orphanet:231692	\N	"" []	Orphanet:632	"" []	577533	\N	\N	EFO	2	EFO	Non-acquired isolated growth hormone deficiency	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:101977	Orphanet:183669	\N	"" []	Orphanet:632	"" []	1160889	\N	\N	EFO	3	EFO	Immunodeficiency predominantly affecting antibody production	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:95488	Orphanet:631	\N	"" []	Orphanet:632	"" []	1160890	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:632	"" []	2044325	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:632	"" []	2044326	\N	\N	EFO	4	EFO	Pituitary deficiency	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:632	"" []	3194470	\N	\N	EFO	5	EFO	Primary immunodeficiency	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:632	"" []	3194471	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:632	"" []	4400533	\N	\N	EFO	6	EFO	Rare genetic immune disease	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:632	"" []	4400534	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:632	"" []	5417174	\N	\N	EFO	7	EFO	genetic disorder	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:632	"" []	5417175	\N	\N	EFO	7	EFO	immune system disease	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:632	"" []	5417176	\N	\N	EFO	7	EFO	genetic disorder	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:632	"" []	5417177	\N	\N	EFO	7	EFO	endocrine system disease	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:632	"" []	6152332	\N	\N	EFO	8	EFO	disease	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:632	"" []	6152333	\N	\N	EFO	8	EFO	disease	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:632	"" []	6152334	\N	\N	EFO	8	EFO	disease	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:632	"" []	6634026	\N	\N	EFO	9	EFO	disposition	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:632	"" []	6926218	\N	\N	EFO	10	EFO	material property	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:632	"" []	7099307	\N	\N	EFO	11	EFO	experimental factor	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Orphanet:63259	\N	\N	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	77578	\N	\N	EFO	0	EFO	Iniencephaly	Iniencephaly
Orphanet:268357	Orphanet:63259	\N	"" []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	221598	\N	\N	EFO	1	EFO	Neural tube closure defect	Iniencephaly
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	577534	\N	\N	EFO	2	EFO	Neural tube defect	Iniencephaly
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	1160891	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Iniencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	2044327	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Iniencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	3194472	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Iniencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	3194473	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Iniencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	4400535	\N	\N	EFO	6	EFO	genetic disorder	Iniencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	4400536	\N	\N	EFO	6	EFO	genetic disorder	Iniencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	5417178	\N	\N	EFO	7	EFO	disease	Iniencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	6152335	\N	\N	EFO	8	EFO	disposition	Iniencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	6634027	\N	\N	EFO	9	EFO	material property	Iniencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:63259	"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." []	6926219	\N	\N	EFO	10	EFO	experimental factor	Iniencephaly
Orphanet:63260	\N	\N	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	77579	\N	\N	EFO	0	EFO	Craniorachischisis	Craniorachischisis
Orphanet:268357	Orphanet:63260	\N	"" []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	221599	\N	\N	EFO	1	EFO	Neural tube closure defect	Craniorachischisis
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	577535	\N	\N	EFO	2	EFO	Neural tube defect	Craniorachischisis
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	1160892	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Craniorachischisis
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	2044328	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Craniorachischisis
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	3194474	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniorachischisis
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	3194475	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Craniorachischisis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	4400537	\N	\N	EFO	6	EFO	genetic disorder	Craniorachischisis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	4400538	\N	\N	EFO	6	EFO	genetic disorder	Craniorachischisis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	5417179	\N	\N	EFO	7	EFO	disease	Craniorachischisis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	6152336	\N	\N	EFO	8	EFO	disposition	Craniorachischisis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	6634028	\N	\N	EFO	9	EFO	material property	Craniorachischisis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:63260	"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." []	6926220	\N	\N	EFO	10	EFO	experimental factor	Craniorachischisis
Orphanet:63261	\N	\N	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	77580	\N	\N	EFO	0	EFO	HERNS syndrome	HERNS syndrome
Orphanet:247691	Orphanet:63261	\N	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	221600	\N	\N	EFO	1	EFO	Retinal vasculopathy and cerebral leukodystrophy	HERNS syndrome
Orphanet:93547	Orphanet:63261	\N	"" []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	221601	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	HERNS syndrome
Orphanet:183503	Orphanet:247691	\N	"" []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	577536	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	HERNS syndrome
Orphanet:71862	Orphanet:247691	\N	"" []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	577537	\N	\N	EFO	2	EFO	Retinal dystrophy	HERNS syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	577538	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	HERNS syndrome
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	1160893	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	HERNS syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	1160894	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	HERNS syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	1160895	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	HERNS syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	1160896	\N	\N	EFO	3	EFO	Rare genetic renal disease	HERNS syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	2044329	\N	\N	EFO	4	EFO	genetic disorder	HERNS syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	2044330	\N	\N	EFO	4	EFO	Rare genetic eye disease	HERNS syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	2044331	\N	\N	EFO	4	EFO	genetic disorder	HERNS syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	2044332	\N	\N	EFO	4	EFO	genetic disorder	HERNS syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	4400540	\N	\N	EFO	6	EFO	disease	HERNS syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	3194477	\N	\N	EFO	5	EFO	genetic disorder	HERNS syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	3194478	\N	\N	EFO	5	EFO	eye disease	HERNS syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	5183123	\N	\N	EFO	7	EFO	disposition	HERNS syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	4400541	\N	\N	EFO	6	EFO	disease	HERNS syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	5998472	\N	\N	EFO	8	EFO	material property	HERNS syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:63261	"Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." []	6551603	\N	\N	EFO	9	EFO	experimental factor	HERNS syndrome
Orphanet:63273	\N	\N	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	77581	\N	\N	EFO	0	EFO	Distal myopathy with posterior leg and anterior hand involvement	Distal myopathy with posterior leg and anterior hand involvement
Orphanet:206650	Orphanet:63273	\N	"" []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	221602	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Distal myopathy with posterior leg and anterior hand involvement
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	577539	\N	\N	EFO	2	EFO	Distal myopathy	Distal myopathy with posterior leg and anterior hand involvement
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	1160897	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Distal myopathy with posterior leg and anterior hand involvement
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	2044333	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal myopathy with posterior leg and anterior hand involvement
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	3194479	\N	\N	EFO	5	EFO	muscular disease	Distal myopathy with posterior leg and anterior hand involvement
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	3194480	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal myopathy with posterior leg and anterior hand involvement
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	4400542	\N	\N	EFO	6	EFO	skeletal system disease	Distal myopathy with posterior leg and anterior hand involvement
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	4400543	\N	\N	EFO	6	EFO	genetic disorder	Distal myopathy with posterior leg and anterior hand involvement
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	5417181	\N	\N	EFO	7	EFO	disease	Distal myopathy with posterior leg and anterior hand involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	5417182	\N	\N	EFO	7	EFO	disease	Distal myopathy with posterior leg and anterior hand involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	6152338	\N	\N	EFO	8	EFO	disposition	Distal myopathy with posterior leg and anterior hand involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	6634029	\N	\N	EFO	9	EFO	material property	Distal myopathy with posterior leg and anterior hand involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:63273	"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." []	6926221	\N	\N	EFO	10	EFO	experimental factor	Distal myopathy with posterior leg and anterior hand involvement
Orphanet:633	\N	\N	"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." []	Orphanet:633	"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." []	77582	\N	\N	EFO	0	EFO	Laron syndrome	Laron syndrome
Orphanet:181393	Orphanet:633	\N	"" []	Orphanet:633	"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." []	221603	\N	\N	EFO	1	EFO	Growth hormone insensitivity syndrome	Laron syndrome
Orphanet:183628	Orphanet:181393	\N	"" []	Orphanet:633	"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." []	577540	\N	\N	EFO	2	EFO	Rare genetic hypothalamic or pituitary disease	Laron syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:633	"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." []	1160898	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Laron syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:633	"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." []	2044334	\N	\N	EFO	4	EFO	genetic disorder	Laron syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:633	"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." []	2044335	\N	\N	EFO	4	EFO	endocrine system disease	Laron syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:633	"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." []	3194481	\N	\N	EFO	5	EFO	disease	Laron syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:633	"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." []	3194482	\N	\N	EFO	5	EFO	disease	Laron syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:633	"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." []	4400544	\N	\N	EFO	6	EFO	disposition	Laron syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:633	"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." []	5417183	\N	\N	EFO	7	EFO	material property	Laron syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:633	"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." []	6152339	\N	\N	EFO	8	EFO	experimental factor	Laron syndrome
Orphanet:634	\N	\N	"" []	Orphanet:634	"" []	77583	\N	\N	EFO	0	EFO	Netherton syndrome	Netherton syndrome
Orphanet:281222	Orphanet:634	\N	"" []	Orphanet:634	"" []	221604	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with prominent hair abnormalities	Netherton syndrome
Orphanet:98599	Orphanet:634	\N	"" []	Orphanet:634	"" []	221605	\N	\N	EFO	1	EFO	Eyebrow/eyelashes structural anomaly	Netherton syndrome
Orphanet:98698	Orphanet:634	\N	"" []	Orphanet:634	"" []	221606	\N	\N	EFO	1	EFO	Ichthyosis associated with ocular features	Netherton syndrome
Orphanet:281217	Orphanet:281222	\N	"" []	Orphanet:634	"" []	577541	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Netherton syndrome
Orphanet:98594	Orphanet:98599	\N	"" []	Orphanet:634	"" []	577542	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Netherton syndrome
Orphanet:98697	Orphanet:98698	\N	"" []	Orphanet:634	"" []	577543	\N	\N	EFO	2	EFO	Genetic keratinization disorder associated with ocular features	Netherton syndrome
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:634	"" []	1160899	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Netherton syndrome
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:634	"" []	1160900	\N	\N	EFO	3	EFO	Rare palpebral disease	Netherton syndrome
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:634	"" []	1160901	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Netherton syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:634	"" []	2044336	\N	\N	EFO	4	EFO	Inherited ichthyosis	Netherton syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:634	"" []	2044337	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Netherton syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:634	"" []	2044338	\N	\N	EFO	4	EFO	Rare genetic eye disease	Netherton syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:634	"" []	3194483	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Netherton syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:634	"" []	3194484	\N	\N	EFO	5	EFO	Rare genetic eye disease	Netherton syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:634	"" []	4400546	\N	\N	EFO	6	EFO	genetic disorder	Netherton syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:634	"" []	4400547	\N	\N	EFO	6	EFO	eye disease	Netherton syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:634	"" []	4400545	\N	\N	EFO	6	EFO	Rare genetic skin disease	Netherton syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:634	"" []	6152340	\N	\N	EFO	8	EFO	disease	Netherton syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:634	"" []	5183125	\N	\N	EFO	7	EFO	disease	Netherton syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:634	"" []	5417184	\N	\N	EFO	7	EFO	genetic disorder	Netherton syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:634	"" []	5417185	\N	\N	EFO	7	EFO	skin disease	Netherton syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:634	"" []	6470836	\N	\N	EFO	9	EFO	disposition	Netherton syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:634	"" []	6152341	\N	\N	EFO	8	EFO	disease	Netherton syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:634	"" []	6848733	\N	\N	EFO	10	EFO	material property	Netherton syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:634	"" []	7068518	\N	\N	EFO	11	EFO	experimental factor	Netherton syndrome
Orphanet:63440	\N	\N	"" []	Orphanet:63440	"" []	77584	\N	\N	EFO	0	EFO	Isolated oxycephaly	Isolated oxycephaly
Orphanet:139390	Orphanet:63440	\N	"" []	Orphanet:63440	"" []	221607	\N	\N	EFO	1	EFO	Isolated craniosynostosis	Isolated oxycephaly
Orphanet:98684	Orphanet:63440	\N	"" []	Orphanet:63440	"" []	221608	\N	\N	EFO	1	EFO	Craniostenosis associated with a strabismus	Isolated oxycephaly
Orphanet:1531	Orphanet:139390	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:63440	"" []	577544	\N	\N	EFO	2	EFO	Craniosynostosis	Isolated oxycephaly
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:63440	"" []	577545	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Isolated oxycephaly
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:63440	"" []	1160902	\N	\N	EFO	3	EFO	Genetic cranial malformation	Isolated oxycephaly
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:63440	"" []	1160903	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Isolated oxycephaly
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:63440	"" []	1160904	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Isolated oxycephaly
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:63440	"" []	2044339	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated oxycephaly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:63440	"" []	2044340	\N	\N	EFO	4	EFO	Rare genetic bone disease	Isolated oxycephaly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:63440	"" []	2044341	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Isolated oxycephaly
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:63440	"" []	2044342	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Isolated oxycephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63440	"" []	4400552	\N	\N	EFO	6	EFO	genetic disorder	Isolated oxycephaly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63440	"" []	3194488	\N	\N	EFO	5	EFO	genetic disorder	Isolated oxycephaly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:63440	"" []	3194489	\N	\N	EFO	5	EFO	bone disease	Isolated oxycephaly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:63440	"" []	3194490	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated oxycephaly
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:63440	"" []	3194491	\N	\N	EFO	5	EFO	Rare genetic eye disease	Isolated oxycephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63440	"" []	5183126	\N	\N	EFO	7	EFO	disease	Isolated oxycephaly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:63440	"" []	4400551	\N	\N	EFO	6	EFO	skeletal system disease	Isolated oxycephaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63440	"" []	4400553	\N	\N	EFO	6	EFO	genetic disorder	Isolated oxycephaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:63440	"" []	4400554	\N	\N	EFO	6	EFO	eye disease	Isolated oxycephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:63440	"" []	5998474	\N	\N	EFO	8	EFO	disposition	Isolated oxycephaly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63440	"" []	5417188	\N	\N	EFO	7	EFO	disease	Isolated oxycephaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63440	"" []	5417189	\N	\N	EFO	7	EFO	disease	Isolated oxycephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:63440	"" []	6551605	\N	\N	EFO	9	EFO	material property	Isolated oxycephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:63440	"" []	6889497	\N	\N	EFO	10	EFO	experimental factor	Isolated oxycephaly
Orphanet:63442	\N	\N	"" []	Orphanet:63442	"" []	77585	\N	\N	EFO	0	EFO	Angel-shaped phalango-epiphyseal dysplasia	Angel-shaped phalango-epiphyseal dysplasia
Orphanet:93436	Orphanet:63442	\N	"" []	Orphanet:63442	"" []	221609	\N	\N	EFO	1	EFO	Acromelic dysplasia	Angel-shaped phalango-epiphyseal dysplasia
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:63442	"" []	577546	\N	\N	EFO	2	EFO	Primary bone dysplasia	Angel-shaped phalango-epiphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:63442	"" []	1160905	\N	\N	EFO	3	EFO	Rare genetic bone disease	Angel-shaped phalango-epiphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:63442	"" []	1160906	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Angel-shaped phalango-epiphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63442	"" []	2044343	\N	\N	EFO	4	EFO	genetic disorder	Angel-shaped phalango-epiphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:63442	"" []	2044344	\N	\N	EFO	4	EFO	bone disease	Angel-shaped phalango-epiphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:63442	"" []	2044345	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Angel-shaped phalango-epiphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63442	"" []	4400557	\N	\N	EFO	6	EFO	disease	Angel-shaped phalango-epiphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:63442	"" []	3194493	\N	\N	EFO	5	EFO	skeletal system disease	Angel-shaped phalango-epiphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63442	"" []	3194494	\N	\N	EFO	5	EFO	genetic disorder	Angel-shaped phalango-epiphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:63442	"" []	5183127	\N	\N	EFO	7	EFO	disposition	Angel-shaped phalango-epiphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63442	"" []	4400556	\N	\N	EFO	6	EFO	disease	Angel-shaped phalango-epiphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:63442	"" []	5998475	\N	\N	EFO	8	EFO	material property	Angel-shaped phalango-epiphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:63442	"" []	6551606	\N	\N	EFO	9	EFO	experimental factor	Angel-shaped phalango-epiphyseal dysplasia
Orphanet:63446	\N	\N	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	77586	\N	\N	EFO	0	EFO	Acrocapitofemoral dysplasia	Acrocapitofemoral dysplasia
Orphanet:93436	Orphanet:63446	\N	"" []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	221610	\N	\N	EFO	1	EFO	Acromelic dysplasia	Acrocapitofemoral dysplasia
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	577547	\N	\N	EFO	2	EFO	Primary bone dysplasia	Acrocapitofemoral dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	1160907	\N	\N	EFO	3	EFO	Rare genetic bone disease	Acrocapitofemoral dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	1160908	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Acrocapitofemoral dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	2044346	\N	\N	EFO	4	EFO	genetic disorder	Acrocapitofemoral dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	2044347	\N	\N	EFO	4	EFO	bone disease	Acrocapitofemoral dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	2044348	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acrocapitofemoral dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	4400560	\N	\N	EFO	6	EFO	disease	Acrocapitofemoral dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	3194496	\N	\N	EFO	5	EFO	skeletal system disease	Acrocapitofemoral dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	3194497	\N	\N	EFO	5	EFO	genetic disorder	Acrocapitofemoral dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	5183128	\N	\N	EFO	7	EFO	disposition	Acrocapitofemoral dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	4400559	\N	\N	EFO	6	EFO	disease	Acrocapitofemoral dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	5998476	\N	\N	EFO	8	EFO	material property	Acrocapitofemoral dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:63446	"Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." []	6551607	\N	\N	EFO	9	EFO	experimental factor	Acrocapitofemoral dysplasia
Orphanet:63454	\N	\N	"" []	Orphanet:63454	"" []	77587	\N	\N	EFO	0	EFO	Patterned dystrophy of the retinal pigment epithelium	Patterned dystrophy of the retinal pigment epithelium
Orphanet:98664	Orphanet:63454	\N	"" []	Orphanet:63454	"" []	221611	\N	\N	EFO	1	EFO	Genetic macular dystrophy	Patterned dystrophy of the retinal pigment epithelium
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:63454	"" []	577548	\N	\N	EFO	2	EFO	Retinal dystrophy	Patterned dystrophy of the retinal pigment epithelium
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:63454	"" []	1160909	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Patterned dystrophy of the retinal pigment epithelium
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:63454	"" []	2044349	\N	\N	EFO	4	EFO	Rare genetic eye disease	Patterned dystrophy of the retinal pigment epithelium
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:63454	"" []	3194498	\N	\N	EFO	5	EFO	genetic disorder	Patterned dystrophy of the retinal pigment epithelium
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:63454	"" []	3194499	\N	\N	EFO	5	EFO	eye disease	Patterned dystrophy of the retinal pigment epithelium
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63454	"" []	4400561	\N	\N	EFO	6	EFO	disease	Patterned dystrophy of the retinal pigment epithelium
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:63454	"" []	4400562	\N	\N	EFO	6	EFO	disease	Patterned dystrophy of the retinal pigment epithelium
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:63454	"" []	5417192	\N	\N	EFO	7	EFO	disposition	Patterned dystrophy of the retinal pigment epithelium
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:63454	"" []	6152346	\N	\N	EFO	8	EFO	material property	Patterned dystrophy of the retinal pigment epithelium
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:63454	"" []	6634032	\N	\N	EFO	9	EFO	experimental factor	Patterned dystrophy of the retinal pigment epithelium
Orphanet:636	\N	\N	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	77588	\N	\N	EFO	0	EFO	Neurofibromatosis type 1	Neurofibromatosis type 1
Orphanet:140162	Orphanet:636	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	221612	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Neurofibromatosis type 1
Orphanet:156629	Orphanet:636	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	221613	\N	\N	EFO	1	EFO	Genetic hypertension	Neurofibromatosis type 1
Orphanet:166466	Orphanet:636	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	221614	\N	\N	EFO	1	EFO	Neurocutaneous syndrome with epilepsy	Neurofibromatosis type 1
Orphanet:183466	Orphanet:636	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	221615	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Neurofibromatosis type 1
Orphanet:98196	Orphanet:636	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	221616	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Neurofibromatosis type 1
Orphanet:98701	Orphanet:636	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	221617	\N	\N	EFO	1	EFO	Phakomatosis with eye involvement	Neurofibromatosis type 1
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	577549	\N	\N	EFO	2	EFO	genetic disorder	Neurofibromatosis type 1
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	577550	\N	\N	EFO	2	EFO	Rare genetic renal disease	Neurofibromatosis type 1
Orphanet:183512	Orphanet:166466	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	577551	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Neurofibromatosis type 1
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	577552	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Neurofibromatosis type 1
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	577553	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Neurofibromatosis type 1
Orphanet:98696	Orphanet:98701	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	577554	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Neurofibromatosis type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	3194501	\N	\N	EFO	5	EFO	disease	Neurofibromatosis type 1
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	1160911	\N	\N	EFO	3	EFO	genetic disorder	Neurofibromatosis type 1
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	1160912	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neurofibromatosis type 1
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	1160913	\N	\N	EFO	3	EFO	Rare genetic skin disease	Neurofibromatosis type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	1160914	\N	\N	EFO	3	EFO	genetic disorder	Neurofibromatosis type 1
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	1160915	\N	\N	EFO	3	EFO	Rare genetic eye disease	Neurofibromatosis type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	4066973	\N	\N	EFO	6	EFO	disposition	Neurofibromatosis type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	2044352	\N	\N	EFO	4	EFO	genetic disorder	Neurofibromatosis type 1
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	2044353	\N	\N	EFO	4	EFO	genetic disorder	Neurofibromatosis type 1
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	2044354	\N	\N	EFO	4	EFO	skin disease	Neurofibromatosis type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	2044355	\N	\N	EFO	4	EFO	genetic disorder	Neurofibromatosis type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	2044356	\N	\N	EFO	4	EFO	eye disease	Neurofibromatosis type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	5060174	\N	\N	EFO	7	EFO	material property	Neurofibromatosis type 1
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	3194502	\N	\N	EFO	5	EFO	disease	Neurofibromatosis type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	3194503	\N	\N	EFO	5	EFO	disease	Neurofibromatosis type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:636	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	5877603	\N	\N	EFO	8	EFO	experimental factor	Neurofibromatosis type 1
Orphanet:637	\N	\N	"" []	Orphanet:637	"" []	77589	\N	\N	EFO	0	EFO	Neurofibromatosis type 2	Neurofibromatosis type 2
Orphanet:140162	Orphanet:637	\N	"" []	Orphanet:637	"" []	221618	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Neurofibromatosis type 2
Orphanet:90642	Orphanet:637	\N	"" []	Orphanet:637	"" []	221619	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Neurofibromatosis type 2
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:637	"" []	577555	\N	\N	EFO	2	EFO	genetic disorder	Neurofibromatosis type 2
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:637	"" []	577556	\N	\N	EFO	2	EFO	Rare genetic deafness	Neurofibromatosis type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:637	"" []	2044358	\N	\N	EFO	4	EFO	disease	Neurofibromatosis type 2
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:637	"" []	1160917	\N	\N	EFO	3	EFO	genetic disorder	Neurofibromatosis type 2
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:637	"" []	1160918	\N	\N	EFO	3	EFO	auditory system disease	Neurofibromatosis type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:637	"" []	5417193	\N	\N	EFO	7	EFO	disposition	Neurofibromatosis type 2
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:637	"" []	2044359	\N	\N	EFO	4	EFO	sensory system disease	Neurofibromatosis type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:637	"" []	5817806	\N	\N	EFO	8	EFO	material property	Neurofibromatosis type 2
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:637	"" []	3194505	\N	\N	EFO	5	EFO	nervous system disease	Neurofibromatosis type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:637	"" []	6410284	\N	\N	EFO	9	EFO	experimental factor	Neurofibromatosis type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:637	"" []	4400565	\N	\N	EFO	6	EFO	disease	Neurofibromatosis type 2
Orphanet:638	\N	\N	"" []	Orphanet:638	"" []	77590	\N	\N	EFO	0	EFO	Neurofibromatosis-Noonan syndrome	Neurofibromatosis-Noonan syndrome
Orphanet:183466	Orphanet:638	\N	"" []	Orphanet:638	"" []	221620	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Neurofibromatosis-Noonan syndrome
Orphanet:98196	Orphanet:638	\N	"" []	Orphanet:638	"" []	221621	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Neurofibromatosis-Noonan syndrome
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:638	"" []	577557	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Neurofibromatosis-Noonan syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:638	"" []	577558	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Neurofibromatosis-Noonan syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:638	"" []	1160919	\N	\N	EFO	3	EFO	Rare genetic skin disease	Neurofibromatosis-Noonan syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:638	"" []	1160920	\N	\N	EFO	3	EFO	genetic disorder	Neurofibromatosis-Noonan syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:638	"" []	2044360	\N	\N	EFO	4	EFO	genetic disorder	Neurofibromatosis-Noonan syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:638	"" []	2044361	\N	\N	EFO	4	EFO	skin disease	Neurofibromatosis-Noonan syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:638	"" []	3194506	\N	\N	EFO	5	EFO	disease	Neurofibromatosis-Noonan syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:638	"" []	3194507	\N	\N	EFO	5	EFO	disease	Neurofibromatosis-Noonan syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:638	"" []	4134214	\N	\N	EFO	6	EFO	disposition	Neurofibromatosis-Noonan syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:638	"" []	5183131	\N	\N	EFO	7	EFO	material property	Neurofibromatosis-Noonan syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:638	"" []	5998477	\N	\N	EFO	8	EFO	experimental factor	Neurofibromatosis-Noonan syndrome
Orphanet:64	\N	\N	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	77591	\N	\N	EFO	0	EFO	Alstrm syndrome	Alstrm syndrome
EFO:0003900	Orphanet:64	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	221622	\N	\N	EFO	1	EFO	ciliopathy	Alstrm syndrome
Orphanet:183625	Orphanet:64	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	221623	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Alstrm syndrome
Orphanet:217619	Orphanet:64	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	221624	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	Alstrm syndrome
Orphanet:240371	Orphanet:64	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	221625	\N	\N	EFO	1	EFO	Syndromic obesity	Alstrm syndrome
Orphanet:90642	Orphanet:64	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	221626	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Alstrm syndrome
Orphanet:98661	Orphanet:64	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	221627	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Alstrm syndrome
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	577559	\N	\N	EFO	2	EFO	genetic disorder	Alstrm syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	577560	\N	\N	EFO	2	EFO	diabetes mellitus	Alstrm syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	577561	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Alstrm syndrome
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	577562	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Alstrm syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	577563	\N	\N	EFO	2	EFO	Genetic obesity	Alstrm syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	577564	\N	\N	EFO	2	EFO	Rare genetic deafness	Alstrm syndrome
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	577565	\N	\N	EFO	2	EFO	Retinal dystrophy	Alstrm syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	4400569	\N	\N	EFO	6	EFO	disease	Alstrm syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	1160922	\N	\N	EFO	3	EFO	metabolic disease	Alstrm syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	2044370	\N	\N	EFO	4	EFO	genetic disorder	Alstrm syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	2044371	\N	\N	EFO	4	EFO	endocrine system disease	Alstrm syndrome
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	1160925	\N	\N	EFO	3	EFO	cardiomyopathy	Alstrm syndrome
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	1160926	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Alstrm syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	1160927	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Alstrm syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	1160928	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Alstrm syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	1160929	\N	\N	EFO	3	EFO	genetic disorder	Alstrm syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	1160930	\N	\N	EFO	3	EFO	auditory system disease	Alstrm syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	1160931	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Alstrm syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	5028468	\N	\N	EFO	7	EFO	disposition	Alstrm syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	2044364	\N	\N	EFO	4	EFO	disease	Alstrm syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	3000404	\N	\N	EFO	5	EFO	disease	Alstrm syndrome
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	2044367	\N	\N	EFO	4	EFO	heart disease	Alstrm syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	2044368	\N	\N	EFO	4	EFO	genetic disorder	Alstrm syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	2044369	\N	\N	EFO	4	EFO	heart disease	Alstrm syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	2044372	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alstrm syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	2044373	\N	\N	EFO	4	EFO	sensory system disease	Alstrm syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	2044374	\N	\N	EFO	4	EFO	Rare genetic eye disease	Alstrm syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	5817807	\N	\N	EFO	8	EFO	material property	Alstrm syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	3194510	\N	\N	EFO	5	EFO	cardiovascular disease	Alstrm syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	3194511	\N	\N	EFO	5	EFO	genetic disorder	Alstrm syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	3194512	\N	\N	EFO	5	EFO	nervous system disease	Alstrm syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	3194513	\N	\N	EFO	5	EFO	genetic disorder	Alstrm syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	3194514	\N	\N	EFO	5	EFO	eye disease	Alstrm syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	6410285	\N	\N	EFO	9	EFO	experimental factor	Alstrm syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	4400568	\N	\N	EFO	6	EFO	disease	Alstrm syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	4400570	\N	\N	EFO	6	EFO	disease	Alstrm syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64	"Alstrm syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." []	4400571	\N	\N	EFO	6	EFO	disease	Alstrm syndrome
Orphanet:640	\N	\N	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	77592	\N	\N	EFO	0	EFO	Hereditary neuropathy with liability to pressure palsies	Hereditary neuropathy with liability to pressure palsies
Orphanet:140453	Orphanet:640	\N	"" []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	221628	\N	\N	EFO	1	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Hereditary neuropathy with liability to pressure palsies
Orphanet:261965	Orphanet:640	\N	"" []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	221629	\N	\N	EFO	1	EFO	Partial monosomy of the short arm of chromosome 17	Hereditary neuropathy with liability to pressure palsies
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	577566	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Hereditary neuropathy with liability to pressure palsies
Orphanet:261831	Orphanet:261965	\N	"" []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	577567	\N	\N	EFO	2	EFO	Partial deletion of chromosome 17	Hereditary neuropathy with liability to pressure palsies
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	1160932	\N	\N	EFO	3	EFO	motor neuron disease	Hereditary neuropathy with liability to pressure palsies
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	1160933	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary neuropathy with liability to pressure palsies
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	1160934	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Hereditary neuropathy with liability to pressure palsies
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	2044375	\N	\N	EFO	4	EFO	neurodegenerative disease	Hereditary neuropathy with liability to pressure palsies
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	2044376	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary neuropathy with liability to pressure palsies
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	2044377	\N	\N	EFO	4	EFO	Autosomal monosomy	Hereditary neuropathy with liability to pressure palsies
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	3194515	\N	\N	EFO	5	EFO	nervous system disease	Hereditary neuropathy with liability to pressure palsies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	3194516	\N	\N	EFO	5	EFO	genetic disorder	Hereditary neuropathy with liability to pressure palsies
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	3194517	\N	\N	EFO	5	EFO	Autosomal anomaly	Hereditary neuropathy with liability to pressure palsies
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	4400572	\N	\N	EFO	6	EFO	disease	Hereditary neuropathy with liability to pressure palsies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	6152348	\N	\N	EFO	8	EFO	disease	Hereditary neuropathy with liability to pressure palsies
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	4400574	\N	\N	EFO	6	EFO	Chromosomal anomaly	Hereditary neuropathy with liability to pressure palsies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	6470837	\N	\N	EFO	9	EFO	disposition	Hereditary neuropathy with liability to pressure palsies
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	5417196	\N	\N	EFO	7	EFO	genetic disorder	Hereditary neuropathy with liability to pressure palsies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	6848734	\N	\N	EFO	10	EFO	material property	Hereditary neuropathy with liability to pressure palsies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:640	"Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." []	7068519	\N	\N	EFO	11	EFO	experimental factor	Hereditary neuropathy with liability to pressure palsies
Orphanet:642	\N	\N	"" []	Orphanet:642	"" []	77593	\N	\N	EFO	0	EFO	Hereditary sensory and autonomic neuropathy type 4	Hereditary sensory and autonomic neuropathy type 4
Orphanet:140477	Orphanet:642	\N	"" []	Orphanet:642	"" []	221630	\N	\N	EFO	1	EFO	Autosomal recessive hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 4
Orphanet:140471	Orphanet:140477	\N	"" []	Orphanet:642	"" []	577568	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 4
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:642	"" []	1160935	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary sensory and autonomic neuropathy type 4
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:642	"" []	2044378	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary sensory and autonomic neuropathy type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:642	"" []	3194518	\N	\N	EFO	5	EFO	genetic disorder	Hereditary sensory and autonomic neuropathy type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:642	"" []	4400575	\N	\N	EFO	6	EFO	disease	Hereditary sensory and autonomic neuropathy type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:642	"" []	5417197	\N	\N	EFO	7	EFO	disposition	Hereditary sensory and autonomic neuropathy type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:642	"" []	6152349	\N	\N	EFO	8	EFO	material property	Hereditary sensory and autonomic neuropathy type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:642	"" []	6634034	\N	\N	EFO	9	EFO	experimental factor	Hereditary sensory and autonomic neuropathy type 4
Orphanet:64280	\N	\N	"" []	Orphanet:64280	"" []	77594	\N	\N	EFO	0	EFO	Childhood absence epilepsy	Childhood absence epilepsy
Orphanet:309	Orphanet:64280	\N	"" []	Orphanet:64280	"" []	221631	\N	\N	EFO	1	EFO	Familial partial epilepsy	Childhood absence epilepsy
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:64280	"" []	577569	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Childhood absence epilepsy
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:64280	"" []	577570	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Childhood absence epilepsy
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:64280	"" []	577571	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Childhood absence epilepsy
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:64280	"" []	577572	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Childhood absence epilepsy
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:64280	"" []	1160936	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Childhood absence epilepsy
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:64280	"" []	1160937	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Childhood absence epilepsy
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:64280	"" []	1160938	\N	\N	EFO	3	EFO	Epilepsy syndrome	Childhood absence epilepsy
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:64280	"" []	1160939	\N	\N	EFO	3	EFO	Epilepsy syndrome	Childhood absence epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:64280	"" []	3194520	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Childhood absence epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:64280	"" []	2044380	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Childhood absence epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:64280	"" []	2044381	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Childhood absence epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64280	"" []	4134216	\N	\N	EFO	6	EFO	genetic disorder	Childhood absence epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64280	"" []	5183133	\N	\N	EFO	7	EFO	disease	Childhood absence epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64280	"" []	5998478	\N	\N	EFO	8	EFO	disposition	Childhood absence epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64280	"" []	6551608	\N	\N	EFO	9	EFO	material property	Childhood absence epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64280	"" []	6889498	\N	\N	EFO	10	EFO	experimental factor	Childhood absence epilepsy
Orphanet:643	\N	\N	"" []	Orphanet:643	"" []	77595	\N	\N	EFO	0	EFO	Giant axonal neuropathy	Giant axonal neuropathy
Orphanet:98497	Orphanet:643	\N	"" []	Orphanet:643	"" []	221632	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Giant axonal neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:643	"" []	577573	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Giant axonal neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:643	"" []	1160940	\N	\N	EFO	3	EFO	genetic disorder	Giant axonal neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:643	"" []	2044382	\N	\N	EFO	4	EFO	disease	Giant axonal neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:643	"" []	3194521	\N	\N	EFO	5	EFO	disposition	Giant axonal neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:643	"" []	4400577	\N	\N	EFO	6	EFO	material property	Giant axonal neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:643	"" []	5417199	\N	\N	EFO	7	EFO	experimental factor	Giant axonal neuropathy
Orphanet:644	\N	\N	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	77596	\N	\N	EFO	0	EFO	NARP syndrome	NARP syndrome
Orphanet:225703	Orphanet:644	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	221633	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	NARP syndrome
Orphanet:254776	Orphanet:644	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	221634	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	NARP syndrome
Orphanet:68385	Orphanet:644	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	221635	\N	\N	EFO	1	EFO	Neurometabolic disease	NARP syndrome
Orphanet:98695	Orphanet:644	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	221636	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	NARP syndrome
Orphanet:98713	Orphanet:644	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	221637	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	NARP syndrome
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	577574	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	NARP syndrome
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	577575	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	NARP syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	577576	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	NARP syndrome
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	577577	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	NARP syndrome
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	577578	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	NARP syndrome
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	1160941	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	NARP syndrome
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	1160942	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	NARP syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	4400578	\N	\N	EFO	6	EFO	genetic disorder	NARP syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	1160944	\N	\N	EFO	3	EFO	Rare genetic eye disease	NARP syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	2044383	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	NARP syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	2044384	\N	\N	EFO	4	EFO	Mitochondrial disease	NARP syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	6152351	\N	\N	EFO	8	EFO	disease	NARP syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	2044386	\N	\N	EFO	4	EFO	genetic disorder	NARP syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	2044387	\N	\N	EFO	4	EFO	eye disease	NARP syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	3194522	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	NARP syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	3194523	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	NARP syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	3194524	\N	\N	EFO	5	EFO	Disorder of energy metabolism	NARP syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	6378969	\N	\N	EFO	9	EFO	disposition	NARP syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	3194527	\N	\N	EFO	5	EFO	disease	NARP syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	4400579	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	NARP syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	4400580	\N	\N	EFO	6	EFO	Inborn errors of metabolism	NARP syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	6778800	\N	\N	EFO	10	EFO	material property	NARP syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	5417200	\N	\N	EFO	7	EFO	genetic disorder	NARP syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	5417201	\N	\N	EFO	7	EFO	genetic disorder	NARP syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	5417202	\N	\N	EFO	7	EFO	metabolic disease	NARP syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	7029993	\N	\N	EFO	11	EFO	experimental factor	NARP syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:644	"Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." []	6152352	\N	\N	EFO	8	EFO	disease	NARP syndrome
Orphanet:64542	\N	\N	"" []	Orphanet:64542	"" []	77597	\N	\N	EFO	0	EFO	Acrofacial dysostosis, Kennedy-Teebi type	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:183576	Orphanet:64542	\N	"" []	Orphanet:64542	"" []	221638	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:364574	Orphanet:64542	\N	"" []	Orphanet:64542	"" []	221639	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:64542	"" []	577579	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:64542	"" []	577580	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:64542	"" []	577581	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Acrofacial dysostosis, Kennedy-Teebi type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64542	"" []	5417206	\N	\N	EFO	7	EFO	genetic disorder	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:64542	"" []	1160946	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:64542	"" []	1160947	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:64542	"" []	1160948	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Acrofacial dysostosis, Kennedy-Teebi type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64542	"" []	5801876	\N	\N	EFO	8	EFO	disease	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:64542	"" []	2044389	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:64542	"" []	2044390	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Acrofacial dysostosis, Kennedy-Teebi type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64542	"" []	6378970	\N	\N	EFO	9	EFO	disposition	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:64542	"" []	3194529	\N	\N	EFO	5	EFO	Rare genetic bone disease	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:64542	"" []	3194530	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:64542	"" []	3194531	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Kennedy-Teebi type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64542	"" []	6778801	\N	\N	EFO	10	EFO	material property	Acrofacial dysostosis, Kennedy-Teebi type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64542	"" []	4400583	\N	\N	EFO	6	EFO	genetic disorder	Acrofacial dysostosis, Kennedy-Teebi type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:64542	"" []	4400584	\N	\N	EFO	6	EFO	bone disease	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:64542	"" []	4400585	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Kennedy-Teebi type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64542	"" []	7029994	\N	\N	EFO	11	EFO	experimental factor	Acrofacial dysostosis, Kennedy-Teebi type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:64542	"" []	5417205	\N	\N	EFO	7	EFO	skeletal system disease	Acrofacial dysostosis, Kennedy-Teebi type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64542	"" []	6152353	\N	\N	EFO	8	EFO	disease	Acrofacial dysostosis, Kennedy-Teebi type
Orphanet:646	\N	\N	"" []	Orphanet:646	"" []	77598	\N	\N	EFO	0	EFO	Niemann-Pick disease type C	Niemann-Pick disease type C
EFO:0003824	Orphanet:646	\N	"Tumors or cancer of the EYE." []	Orphanet:646	"" []	221640	\N	\N	EFO	1	EFO	eye neoplasm	Niemann-Pick disease type C
EFO:0003833	Orphanet:646	\N	"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." []	Orphanet:646	"" []	221641	\N	\N	EFO	1	EFO	brain neoplasm	Niemann-Pick disease type C
EFO:0005815	Orphanet:646	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:646	"" []	221642	\N	\N	EFO	1	EFO	tauopathy	Niemann-Pick disease type C
EFO:1001380	Orphanet:646	\N	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	Orphanet:646	"" []	221643	\N	\N	EFO	1	EFO	Niemann-Pick disease	Niemann-Pick disease type C
Orphanet:183500	Orphanet:646	\N	"" []	Orphanet:646	"" []	221644	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Niemann-Pick disease type C
Orphanet:68385	Orphanet:646	\N	"" []	Orphanet:646	"" []	221645	\N	\N	EFO	1	EFO	Neurometabolic disease	Niemann-Pick disease type C
Orphanet:79204	Orphanet:646	\N	"" []	Orphanet:646	"" []	221646	\N	\N	EFO	1	EFO	Lipid storage disease	Niemann-Pick disease type C
Orphanet:98666	Orphanet:646	\N	"" []	Orphanet:646	"" []	221647	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Niemann-Pick disease type C
Orphanet:98687	Orphanet:646	\N	"" []	Orphanet:646	"" []	221648	\N	\N	EFO	1	EFO	Supranuclear oculomotor palsy	Niemann-Pick disease type C
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:646	"" []	577582	\N	\N	EFO	2	EFO	neoplasm	Niemann-Pick disease type C
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:646	"" []	577583	\N	\N	EFO	2	EFO	eye disease	Niemann-Pick disease type C
EFO:0000616	EFO:0003833	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:646	"" []	577584	\N	\N	EFO	2	EFO	neoplasm	Niemann-Pick disease type C
EFO:0005774	EFO:0003833	\N	"A disease affecting the brain or part of the brain." []	Orphanet:646	"" []	577585	\N	\N	EFO	2	EFO	brain disease	Niemann-Pick disease type C
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:646	"" []	577586	\N	\N	EFO	2	EFO	neurodegenerative disease	Niemann-Pick disease type C
EFO:0000616	EFO:1001380	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:646	"" []	577587	\N	\N	EFO	2	EFO	neoplasm	Niemann-Pick disease type C
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:646	"" []	577588	\N	\N	EFO	2	EFO	neurodegenerative disease	Niemann-Pick disease type C
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:646	"" []	577589	\N	\N	EFO	2	EFO	brain disease	Niemann-Pick disease type C
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:646	"" []	577590	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Niemann-Pick disease type C
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:646	"" []	577591	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Niemann-Pick disease type C
Orphanet:79225	Orphanet:79204	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:646	"" []	577592	\N	\N	EFO	2	EFO	Sphingolipidosis	Niemann-Pick disease type C
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:646	"" []	577593	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Niemann-Pick disease type C
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:646	"" []	577594	\N	\N	EFO	2	EFO	Oculomotor palsy	Niemann-Pick disease type C
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:646	"" []	1160949	\N	\N	EFO	3	EFO	disease	Niemann-Pick disease type C
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:646	"" []	5183137	\N	\N	EFO	7	EFO	disease	Niemann-Pick disease type C
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:646	"" []	1160951	\N	\N	EFO	3	EFO	nervous system disease	Niemann-Pick disease type C
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:646	"" []	1160952	\N	\N	EFO	3	EFO	nervous system disease	Niemann-Pick disease type C
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:646	"" []	1160953	\N	\N	EFO	3	EFO	genetic disorder	Niemann-Pick disease type C
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:646	"" []	1160954	\N	\N	EFO	3	EFO	Lysosomal disease	Niemann-Pick disease type C
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:646	"" []	1160955	\N	\N	EFO	3	EFO	Retinal dystrophy	Niemann-Pick disease type C
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:646	"" []	1160956	\N	\N	EFO	3	EFO	palsy	Niemann-Pick disease type C
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:646	"" []	1160957	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Niemann-Pick disease type C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:646	"" []	5801877	\N	\N	EFO	8	EFO	disposition	Niemann-Pick disease type C
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:646	"" []	3194537	\N	\N	EFO	5	EFO	disease	Niemann-Pick disease type C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:646	"" []	5183136	\N	\N	EFO	7	EFO	disease	Niemann-Pick disease type C
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:646	"" []	2044394	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Niemann-Pick disease type C
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:646	"" []	2044395	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Niemann-Pick disease type C
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:646	"" []	2044396	\N	\N	EFO	4	EFO	nervous system disease	Niemann-Pick disease type C
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:646	"" []	2044397	\N	\N	EFO	4	EFO	Rare genetic eye disease	Niemann-Pick disease type C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:646	"" []	6378971	\N	\N	EFO	9	EFO	material property	Niemann-Pick disease type C
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:646	"" []	3194534	\N	\N	EFO	5	EFO	genetic disorder	Niemann-Pick disease type C
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:646	"" []	3194535	\N	\N	EFO	5	EFO	metabolic disease	Niemann-Pick disease type C
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:646	"" []	3194536	\N	\N	EFO	5	EFO	Rare genetic eye disease	Niemann-Pick disease type C
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:646	"" []	4400590	\N	\N	EFO	6	EFO	genetic disorder	Niemann-Pick disease type C
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:646	"" []	4400591	\N	\N	EFO	6	EFO	eye disease	Niemann-Pick disease type C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:646	"" []	6778802	\N	\N	EFO	10	EFO	experimental factor	Niemann-Pick disease type C
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:646	"" []	4400589	\N	\N	EFO	6	EFO	disease	Niemann-Pick disease type C
Orphanet:64686	\N	\N	"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." []	Orphanet:64686	"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." []	77599	\N	\N	EFO	0	EFO	Tolosa-Hunt syndrome	Tolosa-Hunt syndrome
Orphanet:98681	Orphanet:64686	\N	"" []	Orphanet:64686	"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." []	221649	\N	\N	EFO	1	EFO	Rare strabismus and restriction syndrome	Tolosa-Hunt syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:64686	"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." []	577595	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Tolosa-Hunt syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:64686	"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." []	1160958	\N	\N	EFO	3	EFO	Rare genetic eye disease	Tolosa-Hunt syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64686	"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." []	2044398	\N	\N	EFO	4	EFO	genetic disorder	Tolosa-Hunt syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:64686	"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." []	2044399	\N	\N	EFO	4	EFO	eye disease	Tolosa-Hunt syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64686	"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." []	3194540	\N	\N	EFO	5	EFO	disease	Tolosa-Hunt syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64686	"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." []	3194541	\N	\N	EFO	5	EFO	disease	Tolosa-Hunt syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64686	"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." []	4400593	\N	\N	EFO	6	EFO	disposition	Tolosa-Hunt syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64686	"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." []	5417207	\N	\N	EFO	7	EFO	material property	Tolosa-Hunt syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64686	"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." []	6152354	\N	\N	EFO	8	EFO	experimental factor	Tolosa-Hunt syndrome
Orphanet:647	\N	\N	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	77600	\N	\N	EFO	0	EFO	Nijmegen breakage syndrome	Nijmegen breakage syndrome
Orphanet:169346	Orphanet:647	\N	"" []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	221650	\N	\N	EFO	1	EFO	DNA repair defect other than combined T-cell and B-cell immunodeficiencies	Nijmegen breakage syndrome
Orphanet:183422	Orphanet:647	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	221651	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Nijmegen breakage syndrome
Orphanet:330206	Orphanet:647	\N	"" []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	221652	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Nijmegen breakage syndrome
Orphanet:331217	Orphanet:169346	\N	"" []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	577596	\N	\N	EFO	2	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Nijmegen breakage syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	577597	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Nijmegen breakage syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	577598	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Nijmegen breakage syndrome
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	1160959	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Nijmegen breakage syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	1160960	\N	\N	EFO	3	EFO	genetic disorder	Nijmegen breakage syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	1160961	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Nijmegen breakage syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	2044400	\N	\N	EFO	4	EFO	Primary immunodeficiency	Nijmegen breakage syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	5417208	\N	\N	EFO	7	EFO	disease	Nijmegen breakage syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	2044402	\N	\N	EFO	4	EFO	genetic disorder	Nijmegen breakage syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	3194542	\N	\N	EFO	5	EFO	Rare genetic immune disease	Nijmegen breakage syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	5817811	\N	\N	EFO	8	EFO	disposition	Nijmegen breakage syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	4400594	\N	\N	EFO	6	EFO	genetic disorder	Nijmegen breakage syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	4400595	\N	\N	EFO	6	EFO	immune system disease	Nijmegen breakage syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	6410289	\N	\N	EFO	9	EFO	material property	Nijmegen breakage syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	5417209	\N	\N	EFO	7	EFO	disease	Nijmegen breakage syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:647	"Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." []	6808115	\N	\N	EFO	10	EFO	experimental factor	Nijmegen breakage syndrome
Orphanet:64734	\N	\N	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	77601	\N	\N	EFO	0	EFO	Iridocorneal endothelial syndrome	Iridocorneal endothelial syndrome
Orphanet:98637	Orphanet:64734	\N	"" []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	221653	\N	\N	EFO	1	EFO	Secondary glaucoma due to a proliferation and differentiation anomaly	Iridocorneal endothelial syndrome
Orphanet:98631	Orphanet:98637	\N	"" []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	577599	\N	\N	EFO	2	EFO	Secondary dysgenetic glaucoma	Iridocorneal endothelial syndrome
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	1160962	\N	\N	EFO	3	EFO	Hereditary glaucoma	Iridocorneal endothelial syndrome
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	2044403	\N	\N	EFO	4	EFO	Non-syndromic developmental defect of the eye	Iridocorneal endothelial syndrome
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	3194545	\N	\N	EFO	5	EFO	Genetic developmental defect of the eye	Iridocorneal endothelial syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	4400597	\N	\N	EFO	6	EFO	Rare genetic eye disease	Iridocorneal endothelial syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	4400598	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Iridocorneal endothelial syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	5417211	\N	\N	EFO	7	EFO	genetic disorder	Iridocorneal endothelial syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	5417212	\N	\N	EFO	7	EFO	eye disease	Iridocorneal endothelial syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	5417213	\N	\N	EFO	7	EFO	genetic disorder	Iridocorneal endothelial syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	6152355	\N	\N	EFO	8	EFO	disease	Iridocorneal endothelial syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	6152356	\N	\N	EFO	8	EFO	disease	Iridocorneal endothelial syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	6634036	\N	\N	EFO	9	EFO	disposition	Iridocorneal endothelial syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	6926222	\N	\N	EFO	10	EFO	material property	Iridocorneal endothelial syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64734	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	7099308	\N	\N	EFO	11	EFO	experimental factor	Iridocorneal endothelial syndrome
Orphanet:64739	\N	\N	"" []	Orphanet:64739	"" []	77602	\N	\N	EFO	0	EFO	Ovarian hyperstimulation syndrome	Ovarian hyperstimulation syndrome
EFO:0005771	Orphanet:64739	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:64739	"" []	221654	\N	\N	EFO	1	EFO	ovarian disease	Ovarian hyperstimulation syndrome
Orphanet:183731	Orphanet:64739	\N	"" []	Orphanet:64739	"" []	221655	\N	\N	EFO	1	EFO	Rare genetic gynecological and obstetrical diseases	Ovarian hyperstimulation syndrome
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:64739	"" []	577600	\N	\N	EFO	2	EFO	reproductive system disease	Ovarian hyperstimulation syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64739	"" []	577601	\N	\N	EFO	2	EFO	genetic disorder	Ovarian hyperstimulation syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:64739	"" []	577602	\N	\N	EFO	2	EFO	reproductive system disease	Ovarian hyperstimulation syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64739	"" []	1160963	\N	\N	EFO	3	EFO	disease	Ovarian hyperstimulation syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64739	"" []	1160964	\N	\N	EFO	3	EFO	disease	Ovarian hyperstimulation syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64739	"" []	2044404	\N	\N	EFO	4	EFO	disposition	Ovarian hyperstimulation syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64739	"" []	3194546	\N	\N	EFO	5	EFO	material property	Ovarian hyperstimulation syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64739	"" []	4400599	\N	\N	EFO	6	EFO	experimental factor	Ovarian hyperstimulation syndrome
Orphanet:64746	\N	\N	"" []	Orphanet:64746	"" []	77603	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:64746	"" []	221656	\N	\N	EFO	1	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:64746	"" []	221657	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:64746	"" []	577603	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:64746	"" []	577604	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:64746	"" []	1160965	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:64746	"" []	1160966	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:64746	"" []	2044406	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:64746	"" []	2044405	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64746	"" []	3000405	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:64746	"" []	3194547	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64746	"" []	4134221	\N	\N	EFO	6	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64746	"" []	4400600	\N	\N	EFO	6	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64746	"" []	5183139	\N	\N	EFO	7	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64746	"" []	5998481	\N	\N	EFO	8	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64746	"" []	6551609	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2
Orphanet:64747	\N	\N	"" []	Orphanet:64747	"" []	77604	\N	\N	EFO	0	EFO	X-linked Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease
Orphanet:166	Orphanet:64747	\N	"" []	Orphanet:64747	"" []	221658	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease
Orphanet:90642	Orphanet:64747	\N	"" []	Orphanet:64747	"" []	221659	\N	\N	EFO	1	EFO	Syndromic genetic deafness	X-linked Charcot-Marie-Tooth disease
Orphanet:98464	Orphanet:64747	\N	"" []	Orphanet:64747	"" []	221660	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked Charcot-Marie-Tooth disease
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:64747	"" []	577605	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	X-linked Charcot-Marie-Tooth disease
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:64747	"" []	577606	\N	\N	EFO	2	EFO	Rare genetic deafness	X-linked Charcot-Marie-Tooth disease
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:64747	"" []	577607	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked Charcot-Marie-Tooth disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:64747	"" []	1160968	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64747	"" []	1160969	\N	\N	EFO	3	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:64747	"" []	1160970	\N	\N	EFO	3	EFO	auditory system disease	X-linked Charcot-Marie-Tooth disease
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:64747	"" []	1160971	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked Charcot-Marie-Tooth disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64747	"" []	3194552	\N	\N	EFO	5	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64747	"" []	4134222	\N	\N	EFO	6	EFO	disease	X-linked Charcot-Marie-Tooth disease
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:64747	"" []	2044410	\N	\N	EFO	4	EFO	sensory system disease	X-linked Charcot-Marie-Tooth disease
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:64747	"" []	2044411	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64747	"" []	5060177	\N	\N	EFO	7	EFO	disposition	X-linked Charcot-Marie-Tooth disease
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:64747	"" []	3194551	\N	\N	EFO	5	EFO	nervous system disease	X-linked Charcot-Marie-Tooth disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64747	"" []	5877606	\N	\N	EFO	8	EFO	material property	X-linked Charcot-Marie-Tooth disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64747	"" []	4400603	\N	\N	EFO	6	EFO	disease	X-linked Charcot-Marie-Tooth disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64747	"" []	6470838	\N	\N	EFO	9	EFO	experimental factor	X-linked Charcot-Marie-Tooth disease
Orphanet:64748	\N	\N	"" []	Orphanet:64748	"" []	77605	\N	\N	EFO	0	EFO	Dejerine-Sottas syndrome	Dejerine-Sottas syndrome
Orphanet:140450	Orphanet:64748	\N	"" []	Orphanet:64748	"" []	221661	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	Dejerine-Sottas syndrome
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:64748	"" []	577608	\N	\N	EFO	2	EFO	motor neuron disease	Dejerine-Sottas syndrome
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:64748	"" []	577609	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Dejerine-Sottas syndrome
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:64748	"" []	1160972	\N	\N	EFO	3	EFO	neurodegenerative disease	Dejerine-Sottas syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:64748	"" []	1160973	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Dejerine-Sottas syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:64748	"" []	2044412	\N	\N	EFO	4	EFO	nervous system disease	Dejerine-Sottas syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64748	"" []	2044413	\N	\N	EFO	4	EFO	genetic disorder	Dejerine-Sottas syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64748	"" []	3194553	\N	\N	EFO	5	EFO	disease	Dejerine-Sottas syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64748	"" []	3194554	\N	\N	EFO	5	EFO	disease	Dejerine-Sottas syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64748	"" []	4400604	\N	\N	EFO	6	EFO	disposition	Dejerine-Sottas syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64748	"" []	5417216	\N	\N	EFO	7	EFO	material property	Dejerine-Sottas syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64748	"" []	6152358	\N	\N	EFO	8	EFO	experimental factor	Dejerine-Sottas syndrome
Orphanet:64749	\N	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	77606	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	221662	\N	\N	EFO	1	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	221663	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 4
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	577610	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	577611	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	1160974	\N	\N	EFO	3	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 4
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	1160975	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	2044415	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 4
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	2044414	\N	\N	EFO	4	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	3000406	\N	\N	EFO	5	EFO	genetic disorder	Charcot-Marie-Tooth disease type 4
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	3194555	\N	\N	EFO	5	EFO	nervous system disease	Charcot-Marie-Tooth disease type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	4134224	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease type 4
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	4400605	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	5183141	\N	\N	EFO	7	EFO	disposition	Charcot-Marie-Tooth disease type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	5998483	\N	\N	EFO	8	EFO	material property	Charcot-Marie-Tooth disease type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64749	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	6551610	\N	\N	EFO	9	EFO	experimental factor	Charcot-Marie-Tooth disease type 4
Orphanet:64751	\N	\N	"" []	Orphanet:64751	"" []	77607	\N	\N	EFO	0	EFO	Hereditary motor and sensory neuropathy type 5	Hereditary motor and sensory neuropathy type 5
Orphanet:140456	Orphanet:64751	\N	"" []	Orphanet:64751	"" []	221664	\N	\N	EFO	1	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Hereditary motor and sensory neuropathy type 5
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:64751	"" []	577612	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Hereditary motor and sensory neuropathy type 5
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:64751	"" []	1160977	\N	\N	EFO	3	EFO	motor neuron disease	Hereditary motor and sensory neuropathy type 5
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:64751	"" []	1160978	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary motor and sensory neuropathy type 5
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:64751	"" []	2044417	\N	\N	EFO	4	EFO	neurodegenerative disease	Hereditary motor and sensory neuropathy type 5
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:64751	"" []	2044418	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary motor and sensory neuropathy type 5
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:64751	"" []	3194557	\N	\N	EFO	5	EFO	nervous system disease	Hereditary motor and sensory neuropathy type 5
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64751	"" []	3194558	\N	\N	EFO	5	EFO	genetic disorder	Hereditary motor and sensory neuropathy type 5
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64751	"" []	4400607	\N	\N	EFO	6	EFO	disease	Hereditary motor and sensory neuropathy type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64751	"" []	4400608	\N	\N	EFO	6	EFO	disease	Hereditary motor and sensory neuropathy type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64751	"" []	5417218	\N	\N	EFO	7	EFO	disposition	Hereditary motor and sensory neuropathy type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64751	"" []	6152360	\N	\N	EFO	8	EFO	material property	Hereditary motor and sensory neuropathy type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64751	"" []	6634037	\N	\N	EFO	9	EFO	experimental factor	Hereditary motor and sensory neuropathy type 5
Orphanet:64752	\N	\N	"Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." []	Orphanet:64752	"Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." []	77608	\N	\N	EFO	0	EFO	Hereditary sensory and autonomic neuropathy type 5	Hereditary sensory and autonomic neuropathy type 5
Orphanet:140477	Orphanet:64752	\N	"" []	Orphanet:64752	"Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." []	221665	\N	\N	EFO	1	EFO	Autosomal recessive hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 5
Orphanet:140471	Orphanet:140477	\N	"" []	Orphanet:64752	"Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." []	577613	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 5
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:64752	"Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." []	1160979	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary sensory and autonomic neuropathy type 5
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:64752	"Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." []	2044419	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary sensory and autonomic neuropathy type 5
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64752	"Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." []	3194559	\N	\N	EFO	5	EFO	genetic disorder	Hereditary sensory and autonomic neuropathy type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64752	"Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." []	4400609	\N	\N	EFO	6	EFO	disease	Hereditary sensory and autonomic neuropathy type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64752	"Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." []	5417219	\N	\N	EFO	7	EFO	disposition	Hereditary sensory and autonomic neuropathy type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64752	"Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." []	6152361	\N	\N	EFO	8	EFO	material property	Hereditary sensory and autonomic neuropathy type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64752	"Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." []	6634038	\N	\N	EFO	9	EFO	experimental factor	Hereditary sensory and autonomic neuropathy type 5
Orphanet:64753	\N	\N	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	77609	\N	\N	EFO	0	EFO	Spinocerebellar ataxia with axonal neuropathy type 2	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:98097	Orphanet:64753	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	221666	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:98497	Orphanet:64753	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	221667	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:98688	Orphanet:64753	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	221668	\N	\N	EFO	1	EFO	Oculomotor apraxia or related oculomotor disease	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:1172	Orphanet:98097	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	577614	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	577615	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	577616	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	1160980	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	1160981	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	1160982	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia with axonal neuropathy type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	6152363	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	4400612	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	2044420	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	2044421	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	2044422	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia with axonal neuropathy type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	6370829	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia with axonal neuropathy type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	5028472	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia with axonal neuropathy type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	5028473	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	3194561	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	3194562	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia with axonal neuropathy type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	6762395	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia with axonal neuropathy type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	5817813	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	4400610	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	4400611	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia with axonal neuropathy type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	7015708	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia with axonal neuropathy type 2
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	5417220	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	5417221	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia with axonal neuropathy type 2
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	5417222	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia with axonal neuropathy type 2
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	5417223	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	5417224	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia with axonal neuropathy type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	7173655	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia with axonal neuropathy type 2
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	6152362	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia with axonal neuropathy type 2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	6152364	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia with axonal neuropathy type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64753	"Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." []	6634039	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia with axonal neuropathy type 2
Orphanet:64754	\N	\N	"" []	Orphanet:64754	"" []	77610	\N	\N	EFO	0	EFO	Nevus comedonicus syndrome	Nevus comedonicus syndrome
Orphanet:183487	Orphanet:64754	\N	"" []	Orphanet:64754	"" []	221669	\N	\N	EFO	1	EFO	Genetic skin tumor	Nevus comedonicus syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:64754	"" []	577617	\N	\N	EFO	2	EFO	skin neoplasm	Nevus comedonicus syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:64754	"" []	577618	\N	\N	EFO	2	EFO	Rare genetic tumor	Nevus comedonicus syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:64754	"" []	1160985	\N	\N	EFO	3	EFO	neoplasm	Nevus comedonicus syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:64754	"" []	1160986	\N	\N	EFO	3	EFO	skin disease	Nevus comedonicus syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64754	"" []	1160987	\N	\N	EFO	3	EFO	genetic disorder	Nevus comedonicus syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:64754	"" []	1160988	\N	\N	EFO	3	EFO	neoplasm	Nevus comedonicus syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64754	"" []	2044426	\N	\N	EFO	4	EFO	disease	Nevus comedonicus syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64754	"" []	2044427	\N	\N	EFO	4	EFO	disease	Nevus comedonicus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64754	"" []	2044428	\N	\N	EFO	4	EFO	disease	Nevus comedonicus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64754	"" []	3194566	\N	\N	EFO	5	EFO	disposition	Nevus comedonicus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64754	"" []	4400614	\N	\N	EFO	6	EFO	material property	Nevus comedonicus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64754	"" []	5417226	\N	\N	EFO	7	EFO	experimental factor	Nevus comedonicus syndrome
Orphanet:64755	\N	\N	"" []	Orphanet:64755	"" []	77611	\N	\N	EFO	0	EFO	Becker nevus syndrome	Becker nevus syndrome
Orphanet:183487	Orphanet:64755	\N	"" []	Orphanet:64755	"" []	221670	\N	\N	EFO	1	EFO	Genetic skin tumor	Becker nevus syndrome
Orphanet:98196	Orphanet:64755	\N	"" []	Orphanet:64755	"" []	221671	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Becker nevus syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:64755	"" []	577619	\N	\N	EFO	2	EFO	skin neoplasm	Becker nevus syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:64755	"" []	577620	\N	\N	EFO	2	EFO	Rare genetic tumor	Becker nevus syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:64755	"" []	577621	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Becker nevus syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:64755	"" []	1160989	\N	\N	EFO	3	EFO	neoplasm	Becker nevus syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:64755	"" []	1160990	\N	\N	EFO	3	EFO	skin disease	Becker nevus syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64755	"" []	1160991	\N	\N	EFO	3	EFO	genetic disorder	Becker nevus syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:64755	"" []	1160992	\N	\N	EFO	3	EFO	neoplasm	Becker nevus syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:64755	"" []	1160993	\N	\N	EFO	3	EFO	genetic disorder	Becker nevus syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64755	"" []	2044429	\N	\N	EFO	4	EFO	disease	Becker nevus syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64755	"" []	2044430	\N	\N	EFO	4	EFO	disease	Becker nevus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:64755	"" []	2044431	\N	\N	EFO	4	EFO	disease	Becker nevus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:64755	"" []	3194567	\N	\N	EFO	5	EFO	disposition	Becker nevus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:64755	"" []	4400615	\N	\N	EFO	6	EFO	material property	Becker nevus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:64755	"" []	5417227	\N	\N	EFO	7	EFO	experimental factor	Becker nevus syndrome
Orphanet:648	\N	\N	"" []	Orphanet:648	"" []	77612	\N	\N	EFO	0	EFO	Noonan syndrome	Noonan syndrome
Orphanet:108987	Orphanet:648	\N	"" []	Orphanet:648	"" []	221672	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Noonan syndrome
Orphanet:181441	Orphanet:648	\N	"" []	Orphanet:648	"" []	221673	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Noonan syndrome
Orphanet:183422	Orphanet:648	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:648	"" []	221674	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Noonan syndrome
Orphanet:330197	Orphanet:648	\N	"" []	Orphanet:648	"" []	221675	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Noonan syndrome
Orphanet:89832	Orphanet:648	\N	"" []	Orphanet:648	"" []	221676	\N	\N	EFO	1	EFO	Syndromic lymphedema	Noonan syndrome
Orphanet:93547	Orphanet:648	\N	"" []	Orphanet:648	"" []	221677	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Noonan syndrome
Orphanet:98576	Orphanet:648	\N	"" []	Orphanet:648	"" []	221678	\N	\N	EFO	1	EFO	Malposition of external canthus	Noonan syndrome
Orphanet:98578	Orphanet:648	\N	"" []	Orphanet:648	"" []	221679	\N	\N	EFO	1	EFO	Ptosis	Noonan syndrome
Orphanet:98733	Orphanet:648	\N	"" []	Orphanet:648	"" []	221680	\N	\N	EFO	1	EFO	Noonan syndrome and Noonan-related syndrome	Noonan syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:648	"" []	577622	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Noonan syndrome
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:648	"" []	577623	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Noonan syndrome
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:648	"" []	577624	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Noonan syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:648	"" []	577625	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Noonan syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:648	"" []	577626	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Noonan syndrome
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:648	"" []	577627	\N	\N	EFO	2	EFO	Lymphedema	Noonan syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:648	"" []	577628	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Noonan syndrome
Orphanet:98572	Orphanet:98576	\N	"" []	Orphanet:648	"" []	577629	\N	\N	EFO	2	EFO	Canthal anomaly	Noonan syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:648	"" []	577630	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Noonan syndrome
Orphanet:183570	Orphanet:98733	\N	"" []	Orphanet:648	"" []	577631	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Noonan syndrome
Orphanet:217595	Orphanet:98733	\N	"" []	Orphanet:648	"" []	577632	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	Noonan syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:648	"" []	1160994	\N	\N	EFO	3	EFO	Rare genetic eye disease	Noonan syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:648	"" []	1160995	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Noonan syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:648	"" []	1160996	\N	\N	EFO	3	EFO	genetic disorder	Noonan syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:648	"" []	1160997	\N	\N	EFO	3	EFO	endocrine system disease	Noonan syndrome
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:648	"" []	1160998	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Noonan syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:648	"" []	1160999	\N	\N	EFO	3	EFO	genetic disorder	Noonan syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:648	"" []	1161000	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Noonan syndrome
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:648	"" []	1161001	\N	\N	EFO	3	EFO	Rare genetic skin disease	Noonan syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:648	"" []	1161002	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Noonan syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:648	"" []	1161003	\N	\N	EFO	3	EFO	Rare genetic renal disease	Noonan syndrome
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:648	"" []	1161004	\N	\N	EFO	3	EFO	Rare palpebral disease	Noonan syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:648	"" []	1161005	\N	\N	EFO	3	EFO	Rare palpebral disease	Noonan syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:648	"" []	1161006	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Noonan syndrome
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:648	"" []	1161007	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Noonan syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:648	"" []	4400619	\N	\N	EFO	6	EFO	genetic disorder	Noonan syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:648	"" []	4400620	\N	\N	EFO	6	EFO	eye disease	Noonan syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:648	"" []	2044434	\N	\N	EFO	4	EFO	genetic disorder	Noonan syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:648	"" []	5060179	\N	\N	EFO	7	EFO	disease	Noonan syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:648	"" []	2044436	\N	\N	EFO	4	EFO	disease	Noonan syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:648	"" []	2044437	\N	\N	EFO	4	EFO	Rare genetic male infertility	Noonan syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:648	"" []	2044438	\N	\N	EFO	4	EFO	genetic disorder	Noonan syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:648	"" []	2044439	\N	\N	EFO	4	EFO	skin disease	Noonan syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:648	"" []	2044440	\N	\N	EFO	4	EFO	genetic disorder	Noonan syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:648	"" []	2044441	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Noonan syndrome
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:648	"" []	2044442	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Noonan syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:648	"" []	5060180	\N	\N	EFO	7	EFO	disease	Noonan syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:648	"" []	5817814	\N	\N	EFO	8	EFO	disposition	Noonan syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:648	"" []	3194571	\N	\N	EFO	5	EFO	Genetic infertility	Noonan syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:648	"" []	3194572	\N	\N	EFO	5	EFO	disease	Noonan syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:648	"" []	3194573	\N	\N	EFO	5	EFO	Rare genetic eye disease	Noonan syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:648	"" []	3194574	\N	\N	EFO	5	EFO	genetic disorder	Noonan syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:648	"" []	3194575	\N	\N	EFO	5	EFO	heart disease	Noonan syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:648	"" []	6410290	\N	\N	EFO	9	EFO	material property	Noonan syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:648	"" []	4400617	\N	\N	EFO	6	EFO	genetic disorder	Noonan syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:648	"" []	4400618	\N	\N	EFO	6	EFO	reproductive system disease	Noonan syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:648	"" []	4400622	\N	\N	EFO	6	EFO	cardiovascular disease	Noonan syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:648	"" []	6808116	\N	\N	EFO	10	EFO	experimental factor	Noonan syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:648	"" []	5417229	\N	\N	EFO	7	EFO	disease	Noonan syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:648	"" []	5417230	\N	\N	EFO	7	EFO	disease	Noonan syndrome
Orphanet:649	\N	\N	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	77613	\N	\N	EFO	0	EFO	Norrie disease	Norrie disease
Orphanet:108987	Orphanet:649	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	221681	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Norrie disease
Orphanet:90642	Orphanet:649	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	221682	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Norrie disease
Orphanet:98464	Orphanet:649	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	221683	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Norrie disease
Orphanet:98641	Orphanet:649	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	221684	\N	\N	EFO	1	EFO	Syndromic cataract	Norrie disease
Orphanet:98669	Orphanet:649	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	221685	\N	\N	EFO	1	EFO	Congenital vitreoretinal dysplasia	Norrie disease
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	577633	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Norrie disease
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	577634	\N	\N	EFO	2	EFO	Rare genetic deafness	Norrie disease
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	577635	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Norrie disease
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	577636	\N	\N	EFO	2	EFO	Rare cataract	Norrie disease
Orphanet:98668	Orphanet:98669	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	577637	\N	\N	EFO	2	EFO	Vitreoretinopathy	Norrie disease
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	1161008	\N	\N	EFO	3	EFO	Rare genetic eye disease	Norrie disease
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	1161009	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Norrie disease
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	1161010	\N	\N	EFO	3	EFO	genetic disorder	Norrie disease
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	1161011	\N	\N	EFO	3	EFO	auditory system disease	Norrie disease
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	1161012	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Norrie disease
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	1161013	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Norrie disease
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	1161014	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Norrie disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	3194581	\N	\N	EFO	5	EFO	genetic disorder	Norrie disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	3194582	\N	\N	EFO	5	EFO	eye disease	Norrie disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	2044445	\N	\N	EFO	4	EFO	genetic disorder	Norrie disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	4134227	\N	\N	EFO	6	EFO	disease	Norrie disease
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	2044447	\N	\N	EFO	4	EFO	sensory system disease	Norrie disease
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	2044448	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Norrie disease
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	2044449	\N	\N	EFO	4	EFO	Rare genetic eye disease	Norrie disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	2044450	\N	\N	EFO	4	EFO	Rare genetic eye disease	Norrie disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	4134228	\N	\N	EFO	6	EFO	disease	Norrie disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	5060182	\N	\N	EFO	7	EFO	disposition	Norrie disease
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	3194579	\N	\N	EFO	5	EFO	nervous system disease	Norrie disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	3194580	\N	\N	EFO	5	EFO	genetic disorder	Norrie disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	5877609	\N	\N	EFO	8	EFO	material property	Norrie disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	4400624	\N	\N	EFO	6	EFO	disease	Norrie disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:649	"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." []	6470841	\N	\N	EFO	9	EFO	experimental factor	Norrie disease
Orphanet:65	\N	\N	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	77614	\N	\N	EFO	0	EFO	Leber congenital amaurosis	Leber congenital amaurosis
Orphanet:98622	Orphanet:65	\N	"" []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	221686	\N	\N	EFO	1	EFO	Syndromic hyperopia	Leber congenital amaurosis
Orphanet:98623	Orphanet:65	\N	"" []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	221687	\N	\N	EFO	1	EFO	Syndromic keratoconus	Leber congenital amaurosis
Orphanet:98666	Orphanet:65	\N	"" []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	221688	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Leber congenital amaurosis
Orphanet:98621	Orphanet:98622	\N	"" []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	577638	\N	\N	EFO	2	EFO	Rare hyperopia and astigmatism	Leber congenital amaurosis
Orphanet:156071	Orphanet:98623	\N	"" []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	577639	\N	\N	EFO	2	EFO	Keratoconus	Leber congenital amaurosis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	577640	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Leber congenital amaurosis
Orphanet:183601	Orphanet:98621	\N	"" []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	1161015	\N	\N	EFO	3	EFO	Rare genetic refraction anomaly	Leber congenital amaurosis
Orphanet:101435	Orphanet:156071	\N	"" []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	1161016	\N	\N	EFO	3	EFO	Rare genetic eye disease	Leber congenital amaurosis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	1161017	\N	\N	EFO	3	EFO	Retinal dystrophy	Leber congenital amaurosis
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	2044451	\N	\N	EFO	4	EFO	Rare genetic eye disease	Leber congenital amaurosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	4400626	\N	\N	EFO	6	EFO	genetic disorder	Leber congenital amaurosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	4400627	\N	\N	EFO	6	EFO	eye disease	Leber congenital amaurosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	2044454	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Leber congenital amaurosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	5060183	\N	\N	EFO	7	EFO	disease	Leber congenital amaurosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	5060184	\N	\N	EFO	7	EFO	disease	Leber congenital amaurosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	3194587	\N	\N	EFO	5	EFO	Rare genetic eye disease	Leber congenital amaurosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	5877610	\N	\N	EFO	8	EFO	disposition	Leber congenital amaurosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	6470842	\N	\N	EFO	9	EFO	material property	Leber congenital amaurosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65	"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." []	6848735	\N	\N	EFO	10	EFO	experimental factor	Leber congenital amaurosis
Orphanet:650	\N	\N	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	77615	\N	\N	EFO	0	EFO	LCAT deficiency	LCAT deficiency
Orphanet:31153	Orphanet:650	\N	"" []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	221689	\N	\N	EFO	1	EFO	Hypoalphalipoproteinemia	LCAT deficiency
Orphanet:93593	Orphanet:650	\N	"" []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	221690	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	LCAT deficiency
Orphanet:98711	Orphanet:650	\N	"" []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	221691	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	LCAT deficiency
Orphanet:181431	Orphanet:31153	\N	"" []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	577641	\N	\N	EFO	2	EFO	Rare hypolipidemia	LCAT deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	577642	\N	\N	EFO	2	EFO	Rare genetic renal disease	LCAT deficiency
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	577643	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	LCAT deficiency
Orphanet:101953	Orphanet:181431	\N	"" []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	1161018	\N	\N	EFO	3	EFO	Rare dyslipidemia	LCAT deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	1161019	\N	\N	EFO	3	EFO	genetic disorder	LCAT deficiency
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	1161020	\N	\N	EFO	3	EFO	Rare genetic eye disease	LCAT deficiency
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	2044455	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	LCAT deficiency
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	2044456	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	LCAT deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	5417233	\N	\N	EFO	7	EFO	disease	LCAT deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	2044458	\N	\N	EFO	4	EFO	genetic disorder	LCAT deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	2044459	\N	\N	EFO	4	EFO	eye disease	LCAT deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	3194588	\N	\N	EFO	5	EFO	genetic disorder	LCAT deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	3194589	\N	\N	EFO	5	EFO	endocrine system disease	LCAT deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	3194590	\N	\N	EFO	5	EFO	Inborn errors of metabolism	LCAT deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	5817815	\N	\N	EFO	8	EFO	disposition	LCAT deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	3194593	\N	\N	EFO	5	EFO	disease	LCAT deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	4400629	\N	\N	EFO	6	EFO	disease	LCAT deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	4400630	\N	\N	EFO	6	EFO	genetic disorder	LCAT deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	4400631	\N	\N	EFO	6	EFO	metabolic disease	LCAT deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	6410291	\N	\N	EFO	9	EFO	material property	LCAT deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	5417234	\N	\N	EFO	7	EFO	disease	LCAT deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:650	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	6808117	\N	\N	EFO	10	EFO	experimental factor	LCAT deficiency
Orphanet:652	\N	\N	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	77616	\N	\N	EFO	0	EFO	Multiple endocrine neoplasia type 1	Multiple endocrine neoplasia type 1
Orphanet:140162	Orphanet:652	\N	"" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	221692	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Multiple endocrine neoplasia type 1
Orphanet:2207	Orphanet:652	\N	"" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	221693	\N	\N	EFO	1	EFO	Familial primary hyperparathyroidism	Multiple endocrine neoplasia type 1
Orphanet:276161	Orphanet:652	\N	"" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	221694	\N	\N	EFO	1	EFO	Multiple endocrine neoplasia	Multiple endocrine neoplasia type 1
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	577644	\N	\N	EFO	2	EFO	genetic disorder	Multiple endocrine neoplasia type 1
Orphanet:208596	Orphanet:2207	\N	"" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	577645	\N	\N	EFO	2	EFO	Genetic hyperparathyroidism	Multiple endocrine neoplasia type 1
Orphanet:100094	Orphanet:276161	\N	"" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	577646	\N	\N	EFO	2	EFO	Multiple polyglandular tumor	Multiple endocrine neoplasia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	4400635	\N	\N	EFO	6	EFO	disease	Multiple endocrine neoplasia type 1
EFO:0005754	Orphanet:208596	\N	"a disease that occurs in the parathyroid" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	1161022	\N	\N	EFO	3	EFO	parathyroid disease	Multiple endocrine neoplasia type 1
Orphanet:183634	Orphanet:208596	\N	"" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	1161023	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Multiple endocrine neoplasia type 1
Orphanet:183643	Orphanet:100094	\N	"" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	1161024	\N	\N	EFO	3	EFO	Genetic polyendocrinopathy	Multiple endocrine neoplasia type 1
Orphanet:271847	Orphanet:100094	\N	"" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	1161025	\N	\N	EFO	3	EFO	Genetic endocrine tumor	Multiple endocrine neoplasia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	5028474	\N	\N	EFO	7	EFO	disposition	Multiple endocrine neoplasia type 1
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	2044461	\N	\N	EFO	4	EFO	calcium metabolic disease	Multiple endocrine neoplasia type 1
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	2044462	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Multiple endocrine neoplasia type 1
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	2044463	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Multiple endocrine neoplasia type 1
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	2044464	\N	\N	EFO	4	EFO	endocrine neoplasm	Multiple endocrine neoplasia type 1
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	2044465	\N	\N	EFO	4	EFO	Rare genetic tumor	Multiple endocrine neoplasia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	5817816	\N	\N	EFO	8	EFO	material property	Multiple endocrine neoplasia type 1
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	3194595	\N	\N	EFO	5	EFO	metabolic disease	Multiple endocrine neoplasia type 1
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	3194596	\N	\N	EFO	5	EFO	genetic disorder	Multiple endocrine neoplasia type 1
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	3194597	\N	\N	EFO	5	EFO	endocrine system disease	Multiple endocrine neoplasia type 1
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	3194598	\N	\N	EFO	5	EFO	neoplasm	Multiple endocrine neoplasia type 1
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	3194599	\N	\N	EFO	5	EFO	endocrine system disease	Multiple endocrine neoplasia type 1
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	3194600	\N	\N	EFO	5	EFO	genetic disorder	Multiple endocrine neoplasia type 1
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	3194601	\N	\N	EFO	5	EFO	neoplasm	Multiple endocrine neoplasia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	6410292	\N	\N	EFO	9	EFO	experimental factor	Multiple endocrine neoplasia type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	4400634	\N	\N	EFO	6	EFO	disease	Multiple endocrine neoplasia type 1
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	4400636	\N	\N	EFO	6	EFO	disease	Multiple endocrine neoplasia type 1
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:652	"Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution." []	4400637	\N	\N	EFO	6	EFO	disease	Multiple endocrine neoplasia type 1
Orphanet:65282	\N	\N	"" []	Orphanet:65282	"" []	77617	\N	\N	EFO	0	EFO	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Orphanet:217619	Orphanet:65282	\N	"" []	Orphanet:65282	"" []	221695	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Orphanet:98357	Orphanet:65282	\N	"" []	Orphanet:65282	"" []	221696	\N	\N	EFO	1	EFO	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:65282	"" []	577647	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Orphanet:307871	Orphanet:98357	\N	"" []	Orphanet:65282	"" []	577648	\N	\N	EFO	2	EFO	Disease with focal palmoplantar keratoderma as a major feature	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:65282	"" []	1161026	\N	\N	EFO	3	EFO	cardiomyopathy	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:65282	"" []	1161027	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Orphanet:307837	Orphanet:307871	\N	"" []	Orphanet:65282	"" []	1161028	\N	\N	EFO	3	EFO	Focal palmoplantar keratoderma	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:65282	"" []	2044466	\N	\N	EFO	4	EFO	heart disease	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65282	"" []	2044467	\N	\N	EFO	4	EFO	genetic disorder	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:65282	"" []	2044468	\N	\N	EFO	4	EFO	heart disease	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:65282	"" []	2044469	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:65282	"" []	3194602	\N	\N	EFO	5	EFO	cardiovascular disease	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65282	"" []	6152367	\N	\N	EFO	8	EFO	disease	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:65282	"" []	3194604	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65282	"" []	4400638	\N	\N	EFO	6	EFO	disease	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65282	"" []	6410293	\N	\N	EFO	9	EFO	disposition	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:65282	"" []	4400640	\N	\N	EFO	6	EFO	Rare genetic skin disease	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65282	"" []	6808118	\N	\N	EFO	10	EFO	material property	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65282	"" []	5417238	\N	\N	EFO	7	EFO	genetic disorder	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:65282	"" []	5417239	\N	\N	EFO	7	EFO	skin disease	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65282	"" []	7048777	\N	\N	EFO	11	EFO	experimental factor	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65282	"" []	6152368	\N	\N	EFO	8	EFO	disease	Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Orphanet:65283	\N	\N	"" []	Orphanet:65283	"" []	77618	\N	\N	EFO	0	EFO	Timothy syndrome	Timothy syndrome
Orphanet:768	Orphanet:65283	\N	"" []	Orphanet:65283	"" []	221697	\N	\N	EFO	1	EFO	Familial long QT syndrome	Timothy syndrome
Orphanet:101934	Orphanet:768	\N	"" []	Orphanet:65283	"" []	577649	\N	\N	EFO	2	EFO	Genetic cardiac rhythm disease	Timothy syndrome
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:65283	"" []	1161029	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Timothy syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65283	"" []	2044470	\N	\N	EFO	4	EFO	genetic disorder	Timothy syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:65283	"" []	2044471	\N	\N	EFO	4	EFO	heart disease	Timothy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65283	"" []	3194605	\N	\N	EFO	5	EFO	disease	Timothy syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:65283	"" []	3194606	\N	\N	EFO	5	EFO	cardiovascular disease	Timothy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65283	"" []	5417241	\N	\N	EFO	7	EFO	disposition	Timothy syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65283	"" []	4400642	\N	\N	EFO	6	EFO	disease	Timothy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65283	"" []	5998490	\N	\N	EFO	8	EFO	material property	Timothy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65283	"" []	6551613	\N	\N	EFO	9	EFO	experimental factor	Timothy syndrome
Orphanet:65284	\N	\N	"" []	Orphanet:65284	"" []	77619	\N	\N	EFO	0	EFO	Biotin-responsive basal ganglia disease	Biotin-responsive basal ganglia disease
Orphanet:298644	Orphanet:65284	\N	"" []	Orphanet:65284	"" []	221698	\N	\N	EFO	1	EFO	Disorder of thiamine metabolism and transport	Biotin-responsive basal ganglia disease
Orphanet:68385	Orphanet:65284	\N	"" []	Orphanet:65284	"" []	221699	\N	\N	EFO	1	EFO	Neurometabolic disease	Biotin-responsive basal ganglia disease
EFO:0005596	Orphanet:298644	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:65284	"" []	577650	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Biotin-responsive basal ganglia disease
Orphanet:309827	Orphanet:298644	\N	"" []	Orphanet:65284	"" []	577651	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Biotin-responsive basal ganglia disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:65284	"" []	577652	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Biotin-responsive basal ganglia disease
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:65284	"" []	1161030	\N	\N	EFO	3	EFO	metabolic disease	Biotin-responsive basal ganglia disease
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:65284	"" []	1161031	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Biotin-responsive basal ganglia disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65284	"" []	1161032	\N	\N	EFO	3	EFO	genetic disorder	Biotin-responsive basal ganglia disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65284	"" []	4400645	\N	\N	EFO	6	EFO	disease	Biotin-responsive basal ganglia disease
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:65284	"" []	2044473	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Biotin-responsive basal ganglia disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65284	"" []	4400644	\N	\N	EFO	6	EFO	disease	Biotin-responsive basal ganglia disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65284	"" []	5060186	\N	\N	EFO	7	EFO	disposition	Biotin-responsive basal ganglia disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65284	"" []	3194608	\N	\N	EFO	5	EFO	genetic disorder	Biotin-responsive basal ganglia disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:65284	"" []	3194609	\N	\N	EFO	5	EFO	metabolic disease	Biotin-responsive basal ganglia disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65284	"" []	5877612	\N	\N	EFO	8	EFO	material property	Biotin-responsive basal ganglia disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65284	"" []	6470844	\N	\N	EFO	9	EFO	experimental factor	Biotin-responsive basal ganglia disease
Orphanet:65285	\N	\N	"" []	Orphanet:65285	"" []	77620	\N	\N	EFO	0	EFO	Lhermitte-Duclos disease	Lhermitte-Duclos disease
Orphanet:269567	Orphanet:65285	\N	"" []	Orphanet:65285	"" []	221700	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Lhermitte-Duclos disease
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:65285	"" []	577653	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lhermitte-Duclos disease
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:65285	"" []	1161033	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Lhermitte-Duclos disease
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:65285	"" []	2044475	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lhermitte-Duclos disease
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:65285	"" []	2044476	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lhermitte-Duclos disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65285	"" []	3194610	\N	\N	EFO	5	EFO	genetic disorder	Lhermitte-Duclos disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65285	"" []	3194611	\N	\N	EFO	5	EFO	genetic disorder	Lhermitte-Duclos disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65285	"" []	4400646	\N	\N	EFO	6	EFO	disease	Lhermitte-Duclos disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65285	"" []	5417243	\N	\N	EFO	7	EFO	disposition	Lhermitte-Duclos disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65285	"" []	6152370	\N	\N	EFO	8	EFO	material property	Lhermitte-Duclos disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65285	"" []	6634040	\N	\N	EFO	9	EFO	experimental factor	Lhermitte-Duclos disease
Orphanet:65286	\N	\N	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	Orphanet:65286	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	77621	\N	\N	EFO	0	EFO	3q29 microdeletion syndrome	3q29 microdeletion syndrome
Orphanet:262019	Orphanet:65286	\N	"" []	Orphanet:65286	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	221701	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 3	3q29 microdeletion syndrome
Orphanet:261776	Orphanet:262019	\N	"" []	Orphanet:65286	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	577654	\N	\N	EFO	2	EFO	Partial deletion of chromosome 3	3q29 microdeletion syndrome
Orphanet:98142	Orphanet:261776	\N	"" []	Orphanet:65286	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	1161034	\N	\N	EFO	3	EFO	Partial autosomal monosomy	3q29 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:65286	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	2044477	\N	\N	EFO	4	EFO	Autosomal monosomy	3q29 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:65286	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	3194612	\N	\N	EFO	5	EFO	Autosomal anomaly	3q29 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:65286	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	4400647	\N	\N	EFO	6	EFO	Chromosomal anomaly	3q29 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65286	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	5417244	\N	\N	EFO	7	EFO	genetic disorder	3q29 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65286	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	6152371	\N	\N	EFO	8	EFO	disease	3q29 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65286	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	6634041	\N	\N	EFO	9	EFO	disposition	3q29 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65286	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	6926223	\N	\N	EFO	10	EFO	material property	3q29 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65286	"3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." []	7099309	\N	\N	EFO	11	EFO	experimental factor	3q29 microdeletion syndrome
Orphanet:65287	\N	\N	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	77622	\N	\N	EFO	0	EFO	Beta-ureidopropionase deficiency	Beta-ureidopropionase deficiency
Orphanet:68385	Orphanet:65287	\N	"" []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	221702	\N	\N	EFO	1	EFO	Neurometabolic disease	Beta-ureidopropionase deficiency
Orphanet:79193	Orphanet:65287	\N	"ANPM" []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	221703	\N	\N	EFO	1	EFO	Disorder of pyrimidine metabolism	Beta-ureidopropionase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	577655	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Beta-ureidopropionase deficiency
Orphanet:79224	Orphanet:79193	\N	"" []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	577656	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Beta-ureidopropionase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	1161035	\N	\N	EFO	3	EFO	genetic disorder	Beta-ureidopropionase deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	1161036	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Beta-ureidopropionase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	3194614	\N	\N	EFO	5	EFO	disease	Beta-ureidopropionase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	2044479	\N	\N	EFO	4	EFO	genetic disorder	Beta-ureidopropionase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	2044480	\N	\N	EFO	4	EFO	metabolic disease	Beta-ureidopropionase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	4134233	\N	\N	EFO	6	EFO	disposition	Beta-ureidopropionase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	3194615	\N	\N	EFO	5	EFO	disease	Beta-ureidopropionase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	5183147	\N	\N	EFO	7	EFO	material property	Beta-ureidopropionase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65287	"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." []	5998491	\N	\N	EFO	8	EFO	experimental factor	Beta-ureidopropionase deficiency
Orphanet:65288	\N	\N	"" []	Orphanet:65288	"" []	77623	\N	\N	EFO	0	EFO	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Orphanet:224	Orphanet:65288	\N	"" []	Orphanet:65288	"" []	221704	\N	\N	EFO	1	EFO	Neonatal diabetes mellitus	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Orphanet:269567	Orphanet:65288	\N	"" []	Orphanet:65288	"" []	221705	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Orphanet:183625	Orphanet:224	\N	"" []	Orphanet:65288	"" []	577657	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:65288	"" []	577658	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:65288	"" []	1161037	\N	\N	EFO	3	EFO	diabetes mellitus	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:65288	"" []	1161038	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:65288	"" []	1161039	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:65288	"" []	2044481	\N	\N	EFO	4	EFO	metabolic disease	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65288	"" []	2044482	\N	\N	EFO	4	EFO	genetic disorder	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:65288	"" []	2044483	\N	\N	EFO	4	EFO	endocrine system disease	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:65288	"" []	2044484	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:65288	"" []	2044485	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65288	"" []	3194616	\N	\N	EFO	5	EFO	disease	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65288	"" []	4400650	\N	\N	EFO	6	EFO	disease	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65288	"" []	3194618	\N	\N	EFO	5	EFO	disease	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65288	"" []	3194619	\N	\N	EFO	5	EFO	genetic disorder	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65288	"" []	3194620	\N	\N	EFO	5	EFO	genetic disorder	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65288	"" []	5183148	\N	\N	EFO	7	EFO	disposition	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65288	"" []	5998492	\N	\N	EFO	8	EFO	material property	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65288	"" []	6551614	\N	\N	EFO	9	EFO	experimental factor	Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Orphanet:653	\N	\N	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	77624	\N	\N	EFO	0	EFO	Multiple endocrine neoplasia type 2	Multiple endocrine neoplasia type 2
Orphanet:140162	Orphanet:653	\N	"" []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	221706	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Multiple endocrine neoplasia type 2
Orphanet:276161	Orphanet:653	\N	"" []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	221707	\N	\N	EFO	1	EFO	Multiple endocrine neoplasia	Multiple endocrine neoplasia type 2
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	577659	\N	\N	EFO	2	EFO	genetic disorder	Multiple endocrine neoplasia type 2
Orphanet:100094	Orphanet:276161	\N	"" []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	577660	\N	\N	EFO	2	EFO	Multiple polyglandular tumor	Multiple endocrine neoplasia type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	4400652	\N	\N	EFO	6	EFO	disease	Multiple endocrine neoplasia type 2
Orphanet:183643	Orphanet:100094	\N	"" []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	1161041	\N	\N	EFO	3	EFO	Genetic polyendocrinopathy	Multiple endocrine neoplasia type 2
Orphanet:271847	Orphanet:100094	\N	"" []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	1161042	\N	\N	EFO	3	EFO	Genetic endocrine tumor	Multiple endocrine neoplasia type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	5028475	\N	\N	EFO	7	EFO	disposition	Multiple endocrine neoplasia type 2
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	2044487	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Multiple endocrine neoplasia type 2
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	2044488	\N	\N	EFO	4	EFO	endocrine neoplasm	Multiple endocrine neoplasia type 2
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	2044489	\N	\N	EFO	4	EFO	Rare genetic tumor	Multiple endocrine neoplasia type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	5817817	\N	\N	EFO	8	EFO	material property	Multiple endocrine neoplasia type 2
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	3194622	\N	\N	EFO	5	EFO	genetic disorder	Multiple endocrine neoplasia type 2
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	3194623	\N	\N	EFO	5	EFO	endocrine system disease	Multiple endocrine neoplasia type 2
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	3194624	\N	\N	EFO	5	EFO	neoplasm	Multiple endocrine neoplasia type 2
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	3194625	\N	\N	EFO	5	EFO	endocrine system disease	Multiple endocrine neoplasia type 2
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	3194626	\N	\N	EFO	5	EFO	genetic disorder	Multiple endocrine neoplasia type 2
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	3194627	\N	\N	EFO	5	EFO	neoplasm	Multiple endocrine neoplasia type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	6410294	\N	\N	EFO	9	EFO	experimental factor	Multiple endocrine neoplasia type 2
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	4400653	\N	\N	EFO	6	EFO	disease	Multiple endocrine neoplasia type 2
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:653	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	4400654	\N	\N	EFO	6	EFO	disease	Multiple endocrine neoplasia type 2
Orphanet:654	\N	\N	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	77625	\N	\N	EFO	0	EFO	Nephroblastoma	Nephroblastoma
EFO:0005784	Orphanet:654	\N	"A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	221708	\N	\N	EFO	1	EFO	embryonal neoplasm	Nephroblastoma
Orphanet:183595	Orphanet:654	\N	"" []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	221709	\N	\N	EFO	1	EFO	Genetic renal tumor	Nephroblastoma
EFO:0000616	EFO:0005784	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	577661	\N	\N	EFO	2	EFO	neoplasm	Nephroblastoma
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	577662	\N	\N	EFO	2	EFO	urogenital neoplasm	Nephroblastoma
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	577663	\N	\N	EFO	2	EFO	Rare genetic tumor	Nephroblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	2044491	\N	\N	EFO	4	EFO	disease	Nephroblastoma
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	1161044	\N	\N	EFO	3	EFO	neoplasm	Nephroblastoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	1161045	\N	\N	EFO	3	EFO	genetic disorder	Nephroblastoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	1161046	\N	\N	EFO	3	EFO	neoplasm	Nephroblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	3000407	\N	\N	EFO	5	EFO	disposition	Nephroblastoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	2044492	\N	\N	EFO	4	EFO	disease	Nephroblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	4134234	\N	\N	EFO	6	EFO	material property	Nephroblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:654	"Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." []	5183149	\N	\N	EFO	7	EFO	experimental factor	Nephroblastoma
Orphanet:655	\N	\N	"" []	Orphanet:655	"" []	77626	\N	\N	EFO	0	EFO	Nephronophthisis	Nephronophthisis
Orphanet:93587	Orphanet:655	\N	"" []	Orphanet:655	"" []	221710	\N	\N	EFO	1	EFO	Familial cystic renal disease	Nephronophthisis
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:655	"" []	577664	\N	\N	EFO	2	EFO	kidney disease	Nephronophthisis
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:655	"" []	577665	\N	\N	EFO	2	EFO	Rare genetic renal disease	Nephronophthisis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:655	"" []	1161047	\N	\N	EFO	3	EFO	disease	Nephronophthisis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:655	"" []	1161048	\N	\N	EFO	3	EFO	genetic disorder	Nephronophthisis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:655	"" []	3194630	\N	\N	EFO	5	EFO	disposition	Nephronophthisis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:655	"" []	2044494	\N	\N	EFO	4	EFO	disease	Nephronophthisis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:655	"" []	4134235	\N	\N	EFO	6	EFO	material property	Nephronophthisis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:655	"" []	5183150	\N	\N	EFO	7	EFO	experimental factor	Nephronophthisis
Orphanet:656	\N	\N	"" []	Orphanet:656	"" []	77627	\N	\N	EFO	0	EFO	Familial idiopathic steroid-resistant nephrotic syndrome	Familial idiopathic steroid-resistant nephrotic syndrome
Orphanet:102373	Orphanet:656	\N	"" []	Orphanet:656	"" []	221711	\N	\N	EFO	1	EFO	Primary glomerular disease	Familial idiopathic steroid-resistant nephrotic syndrome
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:656	"" []	577666	\N	\N	EFO	2	EFO	Genetic glomerular disease	Familial idiopathic steroid-resistant nephrotic syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:656	"" []	1161049	\N	\N	EFO	3	EFO	Rare genetic renal disease	Familial idiopathic steroid-resistant nephrotic syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:656	"" []	2044495	\N	\N	EFO	4	EFO	genetic disorder	Familial idiopathic steroid-resistant nephrotic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:656	"" []	3194631	\N	\N	EFO	5	EFO	disease	Familial idiopathic steroid-resistant nephrotic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:656	"" []	4400657	\N	\N	EFO	6	EFO	disposition	Familial idiopathic steroid-resistant nephrotic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:656	"" []	5417247	\N	\N	EFO	7	EFO	material property	Familial idiopathic steroid-resistant nephrotic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:656	"" []	6152373	\N	\N	EFO	8	EFO	experimental factor	Familial idiopathic steroid-resistant nephrotic syndrome
Orphanet:65682	\N	\N	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	77628	\N	\N	EFO	0	EFO	Benign recurrent intrahepatic cholestasis	Benign recurrent intrahepatic cholestasis
Orphanet:284385	Orphanet:65682	\N	"" []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	221712	\N	\N	EFO	1	EFO	Familial intrahepatic cholestasis	Benign recurrent intrahepatic cholestasis
Orphanet:309816	Orphanet:65682	\N	"" []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	221713	\N	\N	EFO	1	EFO	Disorder of bilirubin metabolism and excretion	Benign recurrent intrahepatic cholestasis
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	577667	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Benign recurrent intrahepatic cholestasis
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	577668	\N	\N	EFO	2	EFO	Disorder of porphyrin and haem metabolism	Benign recurrent intrahepatic cholestasis
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	1161050	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Benign recurrent intrahepatic cholestasis
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	1161051	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Benign recurrent intrahepatic cholestasis
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	2044496	\N	\N	EFO	4	EFO	digestive system disease	Benign recurrent intrahepatic cholestasis
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	2044497	\N	\N	EFO	4	EFO	genetic disorder	Benign recurrent intrahepatic cholestasis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	2044498	\N	\N	EFO	4	EFO	genetic disorder	Benign recurrent intrahepatic cholestasis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	2044499	\N	\N	EFO	4	EFO	metabolic disease	Benign recurrent intrahepatic cholestasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	3194632	\N	\N	EFO	5	EFO	disease	Benign recurrent intrahepatic cholestasis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	3194633	\N	\N	EFO	5	EFO	disease	Benign recurrent intrahepatic cholestasis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	3194634	\N	\N	EFO	5	EFO	disease	Benign recurrent intrahepatic cholestasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	4400658	\N	\N	EFO	6	EFO	disposition	Benign recurrent intrahepatic cholestasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	5417248	\N	\N	EFO	7	EFO	material property	Benign recurrent intrahepatic cholestasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65682	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	6152374	\N	\N	EFO	8	EFO	experimental factor	Benign recurrent intrahepatic cholestasis
Orphanet:65683	\N	\N	"" []	Orphanet:65683	"" []	77629	\N	\N	EFO	0	EFO	Isolated focal cortical dysplasia	Isolated focal cortical dysplasia
Orphanet:268950	Orphanet:65683	\N	"" []	Orphanet:65683	"" []	221714	\N	\N	EFO	1	EFO	Cerebral cortical dysplasia	Isolated focal cortical dysplasia
Orphanet:163209	Orphanet:268950	\N	"" []	Orphanet:65683	"" []	577669	\N	\N	EFO	2	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Isolated focal cortical dysplasia
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:65683	"" []	1161052	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Isolated focal cortical dysplasia
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:65683	"" []	1161053	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Isolated focal cortical dysplasia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:65683	"" []	2044500	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Isolated focal cortical dysplasia
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:65683	"" []	2044501	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Isolated focal cortical dysplasia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:65683	"" []	3194635	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:65683	"" []	3194636	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Isolated focal cortical dysplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65683	"" []	5417251	\N	\N	EFO	7	EFO	genetic disorder	Isolated focal cortical dysplasia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:65683	"" []	4400660	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Isolated focal cortical dysplasia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:65683	"" []	4400661	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Isolated focal cortical dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65683	"" []	5998493	\N	\N	EFO	8	EFO	disease	Isolated focal cortical dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65683	"" []	5417250	\N	\N	EFO	7	EFO	genetic disorder	Isolated focal cortical dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65683	"" []	6551615	\N	\N	EFO	9	EFO	disposition	Isolated focal cortical dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65683	"" []	6889499	\N	\N	EFO	10	EFO	material property	Isolated focal cortical dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65683	"" []	7086055	\N	\N	EFO	11	EFO	experimental factor	Isolated focal cortical dysplasia
Orphanet:657	\N	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	77630	\N	\N	EFO	0	EFO	Congenital isolated hyperinsulinism	Congenital isolated hyperinsulinism
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	221715	\N	\N	EFO	1	EFO	Familial hyperinsulinism	Congenital isolated hyperinsulinism
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	221716	\N	\N	EFO	1	EFO	Overgrowth syndrome	Congenital isolated hyperinsulinism
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	577670	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Congenital isolated hyperinsulinism
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	577671	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Congenital isolated hyperinsulinism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	1161054	\N	\N	EFO	3	EFO	genetic disorder	Congenital isolated hyperinsulinism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	1161055	\N	\N	EFO	3	EFO	endocrine system disease	Congenital isolated hyperinsulinism
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	1161056	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital isolated hyperinsulinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	3194638	\N	\N	EFO	5	EFO	disease	Congenital isolated hyperinsulinism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	2044503	\N	\N	EFO	4	EFO	disease	Congenital isolated hyperinsulinism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	2044504	\N	\N	EFO	4	EFO	genetic disorder	Congenital isolated hyperinsulinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	4134236	\N	\N	EFO	6	EFO	disposition	Congenital isolated hyperinsulinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	5183151	\N	\N	EFO	7	EFO	material property	Congenital isolated hyperinsulinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:657	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	5998494	\N	\N	EFO	8	EFO	experimental factor	Congenital isolated hyperinsulinism
Orphanet:65720	\N	\N	"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." []	Orphanet:65720	"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." []	77631	\N	\N	EFO	0	EFO	Arthrogryposis - severe scoliosis	Arthrogryposis - severe scoliosis
Orphanet:97120	Orphanet:65720	\N	"" []	Orphanet:65720	"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." []	221717	\N	\N	EFO	1	EFO	Distal arthrogryposis	Arthrogryposis - severe scoliosis
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:65720	"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." []	577672	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Arthrogryposis - severe scoliosis
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:65720	"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." []	1161057	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Arthrogryposis - severe scoliosis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:65720	"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." []	2044505	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Arthrogryposis - severe scoliosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:65720	"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." []	3194639	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Arthrogryposis - severe scoliosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65720	"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." []	4400663	\N	\N	EFO	6	EFO	genetic disorder	Arthrogryposis - severe scoliosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65720	"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." []	5417253	\N	\N	EFO	7	EFO	disease	Arthrogryposis - severe scoliosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65720	"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." []	6152376	\N	\N	EFO	8	EFO	disposition	Arthrogryposis - severe scoliosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65720	"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." []	6634043	\N	\N	EFO	9	EFO	material property	Arthrogryposis - severe scoliosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65720	"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." []	6926225	\N	\N	EFO	10	EFO	experimental factor	Arthrogryposis - severe scoliosis
Orphanet:65743	\N	\N	"" []	Orphanet:65743	"" []	77632	\N	\N	EFO	0	EFO	Autosomal dominant multiple pterygium syndrome	Autosomal dominant multiple pterygium syndrome
Orphanet:183472	Orphanet:65743	\N	"" []	Orphanet:65743	"" []	221718	\N	\N	EFO	1	EFO	Genetic dermis disorder	Autosomal dominant multiple pterygium syndrome
Orphanet:294060	Orphanet:65743	\N	"" []	Orphanet:65743	"" []	221719	\N	\N	EFO	1	EFO	Multiple pterygium syndrome	Autosomal dominant multiple pterygium syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:65743	"" []	577673	\N	\N	EFO	2	EFO	Rare genetic skin disease	Autosomal dominant multiple pterygium syndrome
Orphanet:109007	Orphanet:294060	\N	"" []	Orphanet:65743	"" []	577674	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	Autosomal dominant multiple pterygium syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65743	"" []	1161058	\N	\N	EFO	3	EFO	genetic disorder	Autosomal dominant multiple pterygium syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:65743	"" []	1161059	\N	\N	EFO	3	EFO	skin disease	Autosomal dominant multiple pterygium syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:65743	"" []	1161060	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Autosomal dominant multiple pterygium syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65743	"" []	5417255	\N	\N	EFO	7	EFO	disease	Autosomal dominant multiple pterygium syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65743	"" []	2044507	\N	\N	EFO	4	EFO	disease	Autosomal dominant multiple pterygium syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:65743	"" []	2044508	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Autosomal dominant multiple pterygium syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65743	"" []	5817818	\N	\N	EFO	8	EFO	disposition	Autosomal dominant multiple pterygium syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:65743	"" []	3194641	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant multiple pterygium syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65743	"" []	6410295	\N	\N	EFO	9	EFO	material property	Autosomal dominant multiple pterygium syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65743	"" []	4400665	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant multiple pterygium syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65743	"" []	6808119	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant multiple pterygium syndrome
Orphanet:65748	\N	\N	"" []	Orphanet:65748	"" []	77633	\N	\N	EFO	0	EFO	Multiple keratoacanthoma, Ferguson-Smith type	Multiple keratoacanthoma, Ferguson-Smith type
Orphanet:183487	Orphanet:65748	\N	"" []	Orphanet:65748	"" []	221720	\N	\N	EFO	1	EFO	Genetic skin tumor	Multiple keratoacanthoma, Ferguson-Smith type
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:65748	"" []	577675	\N	\N	EFO	2	EFO	skin neoplasm	Multiple keratoacanthoma, Ferguson-Smith type
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:65748	"" []	577676	\N	\N	EFO	2	EFO	Rare genetic tumor	Multiple keratoacanthoma, Ferguson-Smith type
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:65748	"" []	1161061	\N	\N	EFO	3	EFO	neoplasm	Multiple keratoacanthoma, Ferguson-Smith type
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:65748	"" []	1161062	\N	\N	EFO	3	EFO	skin disease	Multiple keratoacanthoma, Ferguson-Smith type
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65748	"" []	1161063	\N	\N	EFO	3	EFO	genetic disorder	Multiple keratoacanthoma, Ferguson-Smith type
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:65748	"" []	1161064	\N	\N	EFO	3	EFO	neoplasm	Multiple keratoacanthoma, Ferguson-Smith type
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65748	"" []	2044509	\N	\N	EFO	4	EFO	disease	Multiple keratoacanthoma, Ferguson-Smith type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65748	"" []	2044510	\N	\N	EFO	4	EFO	disease	Multiple keratoacanthoma, Ferguson-Smith type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65748	"" []	2044511	\N	\N	EFO	4	EFO	disease	Multiple keratoacanthoma, Ferguson-Smith type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65748	"" []	3194642	\N	\N	EFO	5	EFO	disposition	Multiple keratoacanthoma, Ferguson-Smith type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65748	"" []	4400666	\N	\N	EFO	6	EFO	material property	Multiple keratoacanthoma, Ferguson-Smith type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65748	"" []	5417256	\N	\N	EFO	7	EFO	experimental factor	Multiple keratoacanthoma, Ferguson-Smith type
Orphanet:65753	\N	\N	"" []	Orphanet:65753	"" []	77634	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth disease type 1
Orphanet:140453	Orphanet:65753	\N	"" []	Orphanet:65753	"" []	221721	\N	\N	EFO	1	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1
Orphanet:166	Orphanet:65753	\N	"" []	Orphanet:65753	"" []	221722	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 1
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:65753	"" []	577677	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:65753	"" []	577678	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:65753	"" []	1161065	\N	\N	EFO	3	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 1
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:65753	"" []	1161066	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:65753	"" []	2044513	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 1
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:65753	"" []	2044512	\N	\N	EFO	4	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65753	"" []	3000408	\N	\N	EFO	5	EFO	genetic disorder	Charcot-Marie-Tooth disease type 1
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:65753	"" []	3194643	\N	\N	EFO	5	EFO	nervous system disease	Charcot-Marie-Tooth disease type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65753	"" []	4134237	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease type 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65753	"" []	4400667	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65753	"" []	5183152	\N	\N	EFO	7	EFO	disposition	Charcot-Marie-Tooth disease type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65753	"" []	5998495	\N	\N	EFO	8	EFO	material property	Charcot-Marie-Tooth disease type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65753	"" []	6551616	\N	\N	EFO	9	EFO	experimental factor	Charcot-Marie-Tooth disease type 1
Orphanet:65759	\N	\N	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	77635	\N	\N	EFO	0	EFO	Carpenter syndrome	Carpenter syndrome
Orphanet:139393	Orphanet:65759	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	221723	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Carpenter syndrome
Orphanet:240371	Orphanet:65759	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	221724	\N	\N	EFO	1	EFO	Syndromic obesity	Carpenter syndrome
Orphanet:330197	Orphanet:65759	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	221725	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Carpenter syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	577679	\N	\N	EFO	2	EFO	Craniosynostosis	Carpenter syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	577680	\N	\N	EFO	2	EFO	Genetic obesity	Carpenter syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	577681	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Carpenter syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	1161068	\N	\N	EFO	3	EFO	Genetic cranial malformation	Carpenter syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	1161069	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Carpenter syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	1161070	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Carpenter syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	1161071	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Carpenter syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	1161072	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Carpenter syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	2044515	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Carpenter syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	2044516	\N	\N	EFO	4	EFO	Rare genetic bone disease	Carpenter syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	2044517	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Carpenter syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	2044518	\N	\N	EFO	4	EFO	genetic disorder	Carpenter syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	2044519	\N	\N	EFO	4	EFO	endocrine system disease	Carpenter syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	2044520	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Carpenter syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	4400670	\N	\N	EFO	6	EFO	genetic disorder	Carpenter syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	3194646	\N	\N	EFO	5	EFO	genetic disorder	Carpenter syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	3194647	\N	\N	EFO	5	EFO	bone disease	Carpenter syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	3194648	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Carpenter syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	5060187	\N	\N	EFO	7	EFO	disease	Carpenter syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	3194650	\N	\N	EFO	5	EFO	disease	Carpenter syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	4400669	\N	\N	EFO	6	EFO	skeletal system disease	Carpenter syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	5877613	\N	\N	EFO	8	EFO	disposition	Carpenter syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	5417258	\N	\N	EFO	7	EFO	disease	Carpenter syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	6470845	\N	\N	EFO	9	EFO	material property	Carpenter syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65759	"Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders." []	6848736	\N	\N	EFO	10	EFO	experimental factor	Carpenter syndrome
Orphanet:65798	\N	\N	"" []	Orphanet:65798	"" []	77636	\N	\N	EFO	0	EFO	Goodman syndrome	Goodman syndrome
Orphanet:139393	Orphanet:65798	\N	"" []	Orphanet:65798	"" []	221726	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Goodman syndrome
Orphanet:330197	Orphanet:65798	\N	"" []	Orphanet:65798	"" []	221727	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Goodman syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:65798	"" []	577682	\N	\N	EFO	2	EFO	Craniosynostosis	Goodman syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:65798	"" []	577683	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Goodman syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:65798	"" []	1161073	\N	\N	EFO	3	EFO	Genetic cranial malformation	Goodman syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:65798	"" []	1161074	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Goodman syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:65798	"" []	1161075	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Goodman syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:65798	"" []	2044522	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Goodman syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:65798	"" []	2044523	\N	\N	EFO	4	EFO	Rare genetic bone disease	Goodman syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:65798	"" []	2044524	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Goodman syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65798	"" []	4400673	\N	\N	EFO	6	EFO	genetic disorder	Goodman syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:65798	"" []	3194652	\N	\N	EFO	5	EFO	genetic disorder	Goodman syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:65798	"" []	3194653	\N	\N	EFO	5	EFO	bone disease	Goodman syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:65798	"" []	3194654	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Goodman syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65798	"" []	5060188	\N	\N	EFO	7	EFO	disease	Goodman syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:65798	"" []	4400672	\N	\N	EFO	6	EFO	skeletal system disease	Goodman syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:65798	"" []	5877614	\N	\N	EFO	8	EFO	disposition	Goodman syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:65798	"" []	5417260	\N	\N	EFO	7	EFO	disease	Goodman syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:65798	"" []	6470846	\N	\N	EFO	9	EFO	material property	Goodman syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:65798	"" []	6848737	\N	\N	EFO	10	EFO	experimental factor	Goodman syndrome
Orphanet:659	\N	\N	"" []	Orphanet:659	"" []	77637	\N	\N	EFO	0	EFO	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Orphanet:307773	Orphanet:659	\N	"" []	Orphanet:659	"" []	221728	\N	\N	EFO	1	EFO	Autosomal dominant diffuse mutilating palmoplantar keratoderma	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Orphanet:98352	Orphanet:307773	\N	"" []	Orphanet:659	"" []	577684	\N	\N	EFO	2	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:659	"" []	1161076	\N	\N	EFO	3	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:659	"" []	2044526	\N	\N	EFO	4	EFO	Diffuse palmoplantar keratoderma	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:659	"" []	3194656	\N	\N	EFO	5	EFO	Hereditary palmoplantar keratoderma	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:659	"" []	4400675	\N	\N	EFO	6	EFO	Genetic epidermal disorder	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:659	"" []	5417262	\N	\N	EFO	7	EFO	Rare genetic skin disease	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:659	"" []	6152380	\N	\N	EFO	8	EFO	genetic disorder	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:659	"" []	6152381	\N	\N	EFO	8	EFO	skin disease	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:659	"" []	6634044	\N	\N	EFO	9	EFO	disease	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:659	"" []	6634045	\N	\N	EFO	9	EFO	disease	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:659	"" []	6926226	\N	\N	EFO	10	EFO	disposition	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:659	"" []	7099310	\N	\N	EFO	11	EFO	material property	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:659	"" []	7208357	\N	\N	EFO	12	EFO	experimental factor	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Orphanet:661	\N	\N	"" []	Orphanet:661	"" []	77638	\N	\N	EFO	0	EFO	Ondine syndrome	Ondine syndrome
Orphanet:71859	Orphanet:661	\N	"" []	Orphanet:661	"" []	221729	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Ondine syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:661	"" []	577685	\N	\N	EFO	2	EFO	genetic disorder	Ondine syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:661	"" []	1161077	\N	\N	EFO	3	EFO	disease	Ondine syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:661	"" []	2044527	\N	\N	EFO	4	EFO	disposition	Ondine syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:661	"" []	3194657	\N	\N	EFO	5	EFO	material property	Ondine syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:661	"" []	4400676	\N	\N	EFO	6	EFO	experimental factor	Ondine syndrome
Orphanet:663	\N	\N	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	77639	\N	\N	EFO	0	EFO	Maternally-inherited progressive external ophthalmoplegia	Maternally-inherited progressive external ophthalmoplegia
Orphanet:206966	Orphanet:663	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	221730	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Maternally-inherited progressive external ophthalmoplegia
Orphanet:254767	Orphanet:663	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	221731	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA	Maternally-inherited progressive external ophthalmoplegia
Orphanet:98578	Orphanet:663	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	221732	\N	\N	EFO	1	EFO	Ptosis	Maternally-inherited progressive external ophthalmoplegia
Orphanet:98683	Orphanet:663	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	221733	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Maternally-inherited progressive external ophthalmoplegia
Orphanet:98695	Orphanet:663	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	221734	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	Maternally-inherited progressive external ophthalmoplegia
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	577686	\N	\N	EFO	2	EFO	Muscular lipidosis	Maternally-inherited progressive external ophthalmoplegia
Orphanet:254758	Orphanet:254767	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	577687	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Maternally-inherited progressive external ophthalmoplegia
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	577688	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Maternally-inherited progressive external ophthalmoplegia
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	577689	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Maternally-inherited progressive external ophthalmoplegia
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	577690	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Maternally-inherited progressive external ophthalmoplegia
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	1161078	\N	\N	EFO	3	EFO	Metabolic myopathy	Maternally-inherited progressive external ophthalmoplegia
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	1161079	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Maternally-inherited progressive external ophthalmoplegia
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	1161080	\N	\N	EFO	3	EFO	Rare palpebral disease	Maternally-inherited progressive external ophthalmoplegia
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	1161081	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Maternally-inherited progressive external ophthalmoplegia
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	1161082	\N	\N	EFO	3	EFO	Rare genetic eye disease	Maternally-inherited progressive external ophthalmoplegia
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	2044528	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Maternally-inherited progressive external ophthalmoplegia
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	2044529	\N	\N	EFO	4	EFO	Mitochondrial disease	Maternally-inherited progressive external ophthalmoplegia
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	2044530	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Maternally-inherited progressive external ophthalmoplegia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	2044531	\N	\N	EFO	4	EFO	Rare genetic eye disease	Maternally-inherited progressive external ophthalmoplegia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	4400680	\N	\N	EFO	6	EFO	genetic disorder	Maternally-inherited progressive external ophthalmoplegia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	4400681	\N	\N	EFO	6	EFO	eye disease	Maternally-inherited progressive external ophthalmoplegia
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	3194658	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Maternally-inherited progressive external ophthalmoplegia
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	3194659	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Maternally-inherited progressive external ophthalmoplegia
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	3194660	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Maternally-inherited progressive external ophthalmoplegia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	3194661	\N	\N	EFO	5	EFO	Rare genetic eye disease	Maternally-inherited progressive external ophthalmoplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	6634047	\N	\N	EFO	9	EFO	disease	Maternally-inherited progressive external ophthalmoplegia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	5060190	\N	\N	EFO	7	EFO	disease	Maternally-inherited progressive external ophthalmoplegia
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	4400677	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Maternally-inherited progressive external ophthalmoplegia
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	4400678	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Maternally-inherited progressive external ophthalmoplegia
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	4400679	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Maternally-inherited progressive external ophthalmoplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	6778804	\N	\N	EFO	10	EFO	disposition	Maternally-inherited progressive external ophthalmoplegia
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	5417263	\N	\N	EFO	7	EFO	muscular disease	Maternally-inherited progressive external ophthalmoplegia
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	5417264	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Maternally-inherited progressive external ophthalmoplegia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	5417265	\N	\N	EFO	7	EFO	genetic disorder	Maternally-inherited progressive external ophthalmoplegia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	5417266	\N	\N	EFO	7	EFO	genetic disorder	Maternally-inherited progressive external ophthalmoplegia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	5417267	\N	\N	EFO	7	EFO	metabolic disease	Maternally-inherited progressive external ophthalmoplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	7029996	\N	\N	EFO	11	EFO	material property	Maternally-inherited progressive external ophthalmoplegia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	6152382	\N	\N	EFO	8	EFO	skeletal system disease	Maternally-inherited progressive external ophthalmoplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	6152383	\N	\N	EFO	8	EFO	genetic disorder	Maternally-inherited progressive external ophthalmoplegia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	6152385	\N	\N	EFO	8	EFO	disease	Maternally-inherited progressive external ophthalmoplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	7181817	\N	\N	EFO	12	EFO	experimental factor	Maternally-inherited progressive external ophthalmoplegia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:663	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	6634046	\N	\N	EFO	9	EFO	disease	Maternally-inherited progressive external ophthalmoplegia
Orphanet:664	\N	\N	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	77640	\N	\N	EFO	0	EFO	Ornithine transcarbamylase deficiency	Ornithine transcarbamylase deficiency
Orphanet:182076	Orphanet:664	\N	"" []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	221735	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Ornithine transcarbamylase deficiency
Orphanet:79167	Orphanet:664	\N	"" []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	221736	\N	\N	EFO	1	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Ornithine transcarbamylase deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	577691	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Ornithine transcarbamylase deficiency
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	577692	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Ornithine transcarbamylase deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	1161083	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Ornithine transcarbamylase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	1161084	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Ornithine transcarbamylase deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	2044534	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Ornithine transcarbamylase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	2044535	\N	\N	EFO	4	EFO	genetic disorder	Ornithine transcarbamylase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	2044536	\N	\N	EFO	4	EFO	metabolic disease	Ornithine transcarbamylase deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	3194666	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Ornithine transcarbamylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	5417269	\N	\N	EFO	7	EFO	disease	Ornithine transcarbamylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	3194668	\N	\N	EFO	5	EFO	disease	Ornithine transcarbamylase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	4400683	\N	\N	EFO	6	EFO	genetic disorder	Ornithine transcarbamylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	5877616	\N	\N	EFO	8	EFO	disposition	Ornithine transcarbamylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	6470848	\N	\N	EFO	9	EFO	material property	Ornithine transcarbamylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:664	"Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." []	6848739	\N	\N	EFO	10	EFO	experimental factor	Ornithine transcarbamylase deficiency
Orphanet:665	\N	\N	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	77641	\N	\N	EFO	0	EFO	Albright hereditary osteodystrophy	Albright hereditary osteodystrophy
Orphanet:183472	Orphanet:665	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	221737	\N	\N	EFO	1	EFO	Genetic dermis disorder	Albright hereditary osteodystrophy
Orphanet:240371	Orphanet:665	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	221738	\N	\N	EFO	1	EFO	Syndromic obesity	Albright hereditary osteodystrophy
Orphanet:69028	Orphanet:665	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	221739	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Albright hereditary osteodystrophy
Orphanet:97593	Orphanet:665	\N	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	221740	\N	\N	EFO	1	EFO	Pseudohypoparathyroidism	Albright hereditary osteodystrophy
Orphanet:98648	Orphanet:665	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	221741	\N	\N	EFO	1	EFO	Musculoskeletal disease with cataract	Albright hereditary osteodystrophy
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	577693	\N	\N	EFO	2	EFO	Rare genetic skin disease	Albright hereditary osteodystrophy
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	577694	\N	\N	EFO	2	EFO	Genetic obesity	Albright hereditary osteodystrophy
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	577695	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Albright hereditary osteodystrophy
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	577696	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Albright hereditary osteodystrophy
Orphanet:139009	Orphanet:97593	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	577697	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Albright hereditary osteodystrophy
Orphanet:183592	Orphanet:97593	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	577698	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Albright hereditary osteodystrophy
Orphanet:208593	Orphanet:97593	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	577699	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Albright hereditary osteodystrophy
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	577700	\N	\N	EFO	2	EFO	Systemic disease with cataract	Albright hereditary osteodystrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	1161085	\N	\N	EFO	3	EFO	genetic disorder	Albright hereditary osteodystrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	1161086	\N	\N	EFO	3	EFO	skin disease	Albright hereditary osteodystrophy
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	1161087	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Albright hereditary osteodystrophy
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	1161088	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Albright hereditary osteodystrophy
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	1161089	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Albright hereditary osteodystrophy
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	1161090	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Albright hereditary osteodystrophy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	1161091	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Albright hereditary osteodystrophy
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	1161092	\N	\N	EFO	3	EFO	Rare genetic renal disease	Albright hereditary osteodystrophy
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	1161093	\N	\N	EFO	3	EFO	parathyroid disease	Albright hereditary osteodystrophy
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	1161094	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Albright hereditary osteodystrophy
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	1161095	\N	\N	EFO	3	EFO	Syndromic cataract	Albright hereditary osteodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	6152388	\N	\N	EFO	8	EFO	disease	Albright hereditary osteodystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	2044538	\N	\N	EFO	4	EFO	disease	Albright hereditary osteodystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	3194677	\N	\N	EFO	5	EFO	genetic disorder	Albright hereditary osteodystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	3194678	\N	\N	EFO	5	EFO	endocrine system disease	Albright hereditary osteodystrophy
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	2044541	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Albright hereditary osteodystrophy
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	2044542	\N	\N	EFO	4	EFO	Rare genetic bone disease	Albright hereditary osteodystrophy
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	2044543	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Albright hereditary osteodystrophy
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	2044544	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Albright hereditary osteodystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	4400687	\N	\N	EFO	6	EFO	genetic disorder	Albright hereditary osteodystrophy
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	2044546	\N	\N	EFO	4	EFO	genetic disorder	Albright hereditary osteodystrophy
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	2044547	\N	\N	EFO	4	EFO	calcium metabolic disease	Albright hereditary osteodystrophy
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	2044548	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Albright hereditary osteodystrophy
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	2044549	\N	\N	EFO	4	EFO	Rare cataract	Albright hereditary osteodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	6378973	\N	\N	EFO	9	EFO	disposition	Albright hereditary osteodystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	4134244	\N	\N	EFO	6	EFO	disease	Albright hereditary osteodystrophy
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	3194673	\N	\N	EFO	5	EFO	genetic disorder	Albright hereditary osteodystrophy
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	3194674	\N	\N	EFO	5	EFO	bone disease	Albright hereditary osteodystrophy
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	3194675	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Albright hereditary osteodystrophy
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	3194676	\N	\N	EFO	5	EFO	metabolic disease	Albright hereditary osteodystrophy
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	3194679	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Albright hereditary osteodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	6778805	\N	\N	EFO	10	EFO	material property	Albright hereditary osteodystrophy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	4400686	\N	\N	EFO	6	EFO	skeletal system disease	Albright hereditary osteodystrophy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	4400688	\N	\N	EFO	6	EFO	disease	Albright hereditary osteodystrophy
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	4400689	\N	\N	EFO	6	EFO	Rare genetic eye disease	Albright hereditary osteodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	7029997	\N	\N	EFO	11	EFO	experimental factor	Albright hereditary osteodystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	5417272	\N	\N	EFO	7	EFO	disease	Albright hereditary osteodystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	5417273	\N	\N	EFO	7	EFO	genetic disorder	Albright hereditary osteodystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	5417274	\N	\N	EFO	7	EFO	eye disease	Albright hereditary osteodystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:665	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	6152389	\N	\N	EFO	8	EFO	disease	Albright hereditary osteodystrophy
Orphanet:66518	\N	\N	"" []	Orphanet:66518	"" []	77642	\N	\N	EFO	0	EFO	Short fifth metacarpals - insulin resistance	Short fifth metacarpals - insulin resistance
Orphanet:181368	Orphanet:66518	\N	"" []	Orphanet:66518	"" []	221742	\N	\N	EFO	1	EFO	Rare insulin-resistance syndrome	Short fifth metacarpals - insulin resistance
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:66518	"" []	577701	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Short fifth metacarpals - insulin resistance
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:66518	"" []	1161096	\N	\N	EFO	3	EFO	diabetes mellitus	Short fifth metacarpals - insulin resistance
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:66518	"" []	1161097	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Short fifth metacarpals - insulin resistance
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:66518	"" []	2044550	\N	\N	EFO	4	EFO	metabolic disease	Short fifth metacarpals - insulin resistance
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66518	"" []	2044551	\N	\N	EFO	4	EFO	genetic disorder	Short fifth metacarpals - insulin resistance
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:66518	"" []	2044552	\N	\N	EFO	4	EFO	endocrine system disease	Short fifth metacarpals - insulin resistance
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66518	"" []	3194680	\N	\N	EFO	5	EFO	disease	Short fifth metacarpals - insulin resistance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66518	"" []	3194681	\N	\N	EFO	5	EFO	disease	Short fifth metacarpals - insulin resistance
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66518	"" []	3194682	\N	\N	EFO	5	EFO	disease	Short fifth metacarpals - insulin resistance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:66518	"" []	4400690	\N	\N	EFO	6	EFO	disposition	Short fifth metacarpals - insulin resistance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:66518	"" []	5417275	\N	\N	EFO	7	EFO	material property	Short fifth metacarpals - insulin resistance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:66518	"" []	6152390	\N	\N	EFO	8	EFO	experimental factor	Short fifth metacarpals - insulin resistance
Orphanet:666	\N	\N	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	77643	\N	\N	EFO	0	EFO	Osteogenesis imperfecta	Osteogenesis imperfecta
Orphanet:93446	Orphanet:666	\N	"" []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	221743	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Osteogenesis imperfecta
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	577702	\N	\N	EFO	2	EFO	Primary bone dysplasia	Osteogenesis imperfecta
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	1161098	\N	\N	EFO	3	EFO	Rare genetic bone disease	Osteogenesis imperfecta
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	1161099	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Osteogenesis imperfecta
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	2044553	\N	\N	EFO	4	EFO	genetic disorder	Osteogenesis imperfecta
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	2044554	\N	\N	EFO	4	EFO	bone disease	Osteogenesis imperfecta
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	2044555	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Osteogenesis imperfecta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	4400693	\N	\N	EFO	6	EFO	disease	Osteogenesis imperfecta
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	3194684	\N	\N	EFO	5	EFO	skeletal system disease	Osteogenesis imperfecta
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	3194685	\N	\N	EFO	5	EFO	genetic disorder	Osteogenesis imperfecta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	5183157	\N	\N	EFO	7	EFO	disposition	Osteogenesis imperfecta
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	4400692	\N	\N	EFO	6	EFO	disease	Osteogenesis imperfecta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	5998500	\N	\N	EFO	8	EFO	material property	Osteogenesis imperfecta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:666	"Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." []	6551620	\N	\N	EFO	9	EFO	experimental factor	Osteogenesis imperfecta
Orphanet:66625	\N	\N	"" []	Orphanet:66625	"" []	77644	\N	\N	EFO	0	EFO	Cerebro-oculo-nasal syndrome	Cerebro-oculo-nasal syndrome
Orphanet:102283	Orphanet:66625	\N	"" []	Orphanet:66625	"" []	221744	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Cerebro-oculo-nasal syndrome
Orphanet:183763	Orphanet:66625	\N	"" []	Orphanet:66625	"" []	221745	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Cerebro-oculo-nasal syndrome
Orphanet:269564	Orphanet:66625	\N	"" []	Orphanet:66625	"" []	221746	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Cerebro-oculo-nasal syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:66625	"" []	577703	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Cerebro-oculo-nasal syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:66625	"" []	577704	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Cerebro-oculo-nasal syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:66625	"" []	577705	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Cerebro-oculo-nasal syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:66625	"" []	1161100	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cerebro-oculo-nasal syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:66625	"" []	1161101	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cerebro-oculo-nasal syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:66625	"" []	1161102	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cerebro-oculo-nasal syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:66625	"" []	1161103	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cerebro-oculo-nasal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66625	"" []	2044556	\N	\N	EFO	4	EFO	genetic disorder	Cerebro-oculo-nasal syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66625	"" []	2044557	\N	\N	EFO	4	EFO	genetic disorder	Cerebro-oculo-nasal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66625	"" []	3194686	\N	\N	EFO	5	EFO	disease	Cerebro-oculo-nasal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:66625	"" []	4400694	\N	\N	EFO	6	EFO	disposition	Cerebro-oculo-nasal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:66625	"" []	5417277	\N	\N	EFO	7	EFO	material property	Cerebro-oculo-nasal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:66625	"" []	6152392	\N	\N	EFO	8	EFO	experimental factor	Cerebro-oculo-nasal syndrome
Orphanet:66628	\N	\N	"" []	Orphanet:66628	"" []	77645	\N	\N	EFO	0	EFO	Obesity due to congenital leptin deficiency	Obesity due to congenital leptin deficiency
Orphanet:181390	Orphanet:66628	\N	"" []	Orphanet:66628	"" []	221747	\N	\N	EFO	1	EFO	Hypogonadotropic hypogonadism associated with other endocrinopathies	Obesity due to congenital leptin deficiency
Orphanet:98267	Orphanet:66628	\N	"" []	Orphanet:66628	"" []	221748	\N	\N	EFO	1	EFO	Genetic non-syndromic obesity	Obesity due to congenital leptin deficiency
Orphanet:174590	Orphanet:181390	\N	"" []	Orphanet:66628	"" []	577706	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Obesity due to congenital leptin deficiency
Orphanet:399839	Orphanet:181390	\N	"" []	Orphanet:66628	"" []	577707	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Obesity due to congenital leptin deficiency
Orphanet:77828	Orphanet:98267	\N	"" []	Orphanet:66628	"" []	577708	\N	\N	EFO	2	EFO	Genetic obesity	Obesity due to congenital leptin deficiency
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:66628	"" []	1161104	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Obesity due to congenital leptin deficiency
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:66628	"" []	1161105	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Obesity due to congenital leptin deficiency
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:66628	"" []	1161106	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Obesity due to congenital leptin deficiency
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:66628	"" []	1161107	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Obesity due to congenital leptin deficiency
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:66628	"" []	1161108	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Obesity due to congenital leptin deficiency
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:66628	"" []	1161109	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Obesity due to congenital leptin deficiency
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:66628	"" []	2044558	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Obesity due to congenital leptin deficiency
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:66628	"" []	2044559	\N	\N	EFO	4	EFO	Rare genetic male infertility	Obesity due to congenital leptin deficiency
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:66628	"" []	2044560	\N	\N	EFO	4	EFO	Pituitary deficiency	Obesity due to congenital leptin deficiency
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:66628	"" []	2044561	\N	\N	EFO	4	EFO	Rare genetic female infertility	Obesity due to congenital leptin deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66628	"" []	5417280	\N	\N	EFO	7	EFO	genetic disorder	Obesity due to congenital leptin deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:66628	"" []	5417281	\N	\N	EFO	7	EFO	endocrine system disease	Obesity due to congenital leptin deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:66628	"" []	2044564	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Obesity due to congenital leptin deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66628	"" []	3194687	\N	\N	EFO	5	EFO	genetic disorder	Obesity due to congenital leptin deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:66628	"" []	3194688	\N	\N	EFO	5	EFO	reproductive system disease	Obesity due to congenital leptin deficiency
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:66628	"" []	3194689	\N	\N	EFO	5	EFO	Genetic infertility	Obesity due to congenital leptin deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:66628	"" []	3194690	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Obesity due to congenital leptin deficiency
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:66628	"" []	3194691	\N	\N	EFO	5	EFO	Genetic infertility	Obesity due to congenital leptin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66628	"" []	5817820	\N	\N	EFO	8	EFO	disease	Obesity due to congenital leptin deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66628	"" []	5817821	\N	\N	EFO	8	EFO	disease	Obesity due to congenital leptin deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66628	"" []	3194694	\N	\N	EFO	5	EFO	genetic disorder	Obesity due to congenital leptin deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66628	"" []	5417279	\N	\N	EFO	7	EFO	disease	Obesity due to congenital leptin deficiency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66628	"" []	4400697	\N	\N	EFO	6	EFO	genetic disorder	Obesity due to congenital leptin deficiency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:66628	"" []	4400698	\N	\N	EFO	6	EFO	reproductive system disease	Obesity due to congenital leptin deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:66628	"" []	4400699	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Obesity due to congenital leptin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:66628	"" []	6410298	\N	\N	EFO	9	EFO	disposition	Obesity due to congenital leptin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:66628	"" []	6808122	\N	\N	EFO	10	EFO	material property	Obesity due to congenital leptin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:66628	"" []	7048779	\N	\N	EFO	11	EFO	experimental factor	Obesity due to congenital leptin deficiency
Orphanet:66629	\N	\N	"" []	Orphanet:66629	"" []	77646	\N	\N	EFO	0	EFO	Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen megacolon syndrome
Orphanet:102283	Orphanet:66629	\N	"" []	Orphanet:66629	"" []	221749	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Goldberg-Shprintzen megacolon syndrome
Orphanet:108969	Orphanet:66629	\N	"" []	Orphanet:66629	"" []	221750	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Goldberg-Shprintzen megacolon syndrome
Orphanet:117573	Orphanet:66629	\N	"" []	Orphanet:66629	"" []	221751	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Goldberg-Shprintzen megacolon syndrome
Orphanet:139039	Orphanet:66629	\N	"" []	Orphanet:66629	"" []	221752	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Goldberg-Shprintzen megacolon syndrome
Orphanet:183763	Orphanet:66629	\N	"" []	Orphanet:66629	"" []	221753	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Goldberg-Shprintzen megacolon syndrome
Orphanet:98578	Orphanet:66629	\N	"" []	Orphanet:66629	"" []	221754	\N	\N	EFO	1	EFO	Ptosis	Goldberg-Shprintzen megacolon syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:66629	"" []	577709	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Goldberg-Shprintzen megacolon syndrome
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:66629	"" []	577710	\N	\N	EFO	2	EFO	Intestinal malformation	Goldberg-Shprintzen megacolon syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:66629	"" []	577711	\N	\N	EFO	2	EFO	Anorectal malformation	Goldberg-Shprintzen megacolon syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:66629	"" []	577712	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Goldberg-Shprintzen megacolon syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:66629	"" []	577713	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Goldberg-Shprintzen megacolon syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:66629	"" []	577714	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Goldberg-Shprintzen megacolon syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:66629	"" []	1161110	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Goldberg-Shprintzen megacolon syndrome
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:66629	"" []	1161111	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Goldberg-Shprintzen megacolon syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:66629	"" []	1161112	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Goldberg-Shprintzen megacolon syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:66629	"" []	1161113	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Goldberg-Shprintzen megacolon syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:66629	"" []	1161114	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Goldberg-Shprintzen megacolon syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:66629	"" []	1161115	\N	\N	EFO	3	EFO	Rare palpebral disease	Goldberg-Shprintzen megacolon syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66629	"" []	4400702	\N	\N	EFO	6	EFO	genetic disorder	Goldberg-Shprintzen megacolon syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:66629	"" []	2044566	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Goldberg-Shprintzen megacolon syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:66629	"" []	2044567	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Goldberg-Shprintzen megacolon syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66629	"" []	2044568	\N	\N	EFO	4	EFO	genetic disorder	Goldberg-Shprintzen megacolon syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:66629	"" []	2044569	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Goldberg-Shprintzen megacolon syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66629	"" []	5060193	\N	\N	EFO	7	EFO	disease	Goldberg-Shprintzen megacolon syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:66629	"" []	3194697	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Goldberg-Shprintzen megacolon syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:66629	"" []	3194698	\N	\N	EFO	5	EFO	Rare genetic eye disease	Goldberg-Shprintzen megacolon syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:66629	"" []	5877619	\N	\N	EFO	8	EFO	disposition	Goldberg-Shprintzen megacolon syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66629	"" []	4400703	\N	\N	EFO	6	EFO	genetic disorder	Goldberg-Shprintzen megacolon syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:66629	"" []	4400704	\N	\N	EFO	6	EFO	eye disease	Goldberg-Shprintzen megacolon syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:66629	"" []	6470851	\N	\N	EFO	9	EFO	material property	Goldberg-Shprintzen megacolon syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66629	"" []	5417284	\N	\N	EFO	7	EFO	disease	Goldberg-Shprintzen megacolon syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:66629	"" []	6848741	\N	\N	EFO	10	EFO	experimental factor	Goldberg-Shprintzen megacolon syndrome
Orphanet:66630	\N	\N	"" []	Orphanet:66630	"" []	77647	\N	\N	EFO	0	EFO	Congenital pseudoarthrosis of clavicle	Congenital pseudoarthrosis of clavicle
Orphanet:404568	Orphanet:66630	\N	"" []	Orphanet:66630	"" []	221755	\N	\N	EFO	1	EFO	Dysostosis of genetic origin	Congenital pseudoarthrosis of clavicle
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:66630	"" []	577715	\N	\N	EFO	2	EFO	Rare genetic bone disease	Congenital pseudoarthrosis of clavicle
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:66630	"" []	577716	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Congenital pseudoarthrosis of clavicle
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66630	"" []	1161116	\N	\N	EFO	3	EFO	genetic disorder	Congenital pseudoarthrosis of clavicle
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:66630	"" []	1161117	\N	\N	EFO	3	EFO	bone disease	Congenital pseudoarthrosis of clavicle
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:66630	"" []	1161118	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital pseudoarthrosis of clavicle
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66630	"" []	3194701	\N	\N	EFO	5	EFO	disease	Congenital pseudoarthrosis of clavicle
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:66630	"" []	2044571	\N	\N	EFO	4	EFO	skeletal system disease	Congenital pseudoarthrosis of clavicle
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66630	"" []	2044572	\N	\N	EFO	4	EFO	genetic disorder	Congenital pseudoarthrosis of clavicle
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:66630	"" []	4134246	\N	\N	EFO	6	EFO	disposition	Congenital pseudoarthrosis of clavicle
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66630	"" []	3194700	\N	\N	EFO	5	EFO	disease	Congenital pseudoarthrosis of clavicle
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:66630	"" []	5183160	\N	\N	EFO	7	EFO	material property	Congenital pseudoarthrosis of clavicle
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:66630	"" []	5998503	\N	\N	EFO	8	EFO	experimental factor	Congenital pseudoarthrosis of clavicle
Orphanet:66631	\N	\N	"" []	Orphanet:66631	"" []	77648	\N	\N	EFO	0	EFO	CEDNIK syndrome	CEDNIK syndrome
Orphanet:183763	Orphanet:66631	\N	"" []	Orphanet:66631	"" []	221756	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	CEDNIK syndrome
Orphanet:281241	Orphanet:66631	\N	"" []	Orphanet:66631	"" []	221757	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with fatal disease course	CEDNIK syndrome
Orphanet:98356	Orphanet:66631	\N	"" []	Orphanet:66631	"" []	221758	\N	\N	EFO	1	EFO	Autosomal recessive isolated diffuse palmoplantar keratoderma	CEDNIK syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:66631	"" []	577717	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	CEDNIK syndrome
Orphanet:281217	Orphanet:281241	\N	"" []	Orphanet:66631	"" []	577718	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	CEDNIK syndrome
Orphanet:307148	Orphanet:98356	\N	"" []	Orphanet:66631	"" []	577719	\N	\N	EFO	2	EFO	Isolated diffuse palmoplantar keratoderma	CEDNIK syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:66631	"" []	1161119	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	CEDNIK syndrome
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:66631	"" []	1161120	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	CEDNIK syndrome
Orphanet:307141	Orphanet:307148	\N	"" []	Orphanet:66631	"" []	1161121	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	CEDNIK syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66631	"" []	2044573	\N	\N	EFO	4	EFO	genetic disorder	CEDNIK syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:66631	"" []	2044574	\N	\N	EFO	4	EFO	Inherited ichthyosis	CEDNIK syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:66631	"" []	2044575	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	CEDNIK syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66631	"" []	6152396	\N	\N	EFO	8	EFO	disease	CEDNIK syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:66631	"" []	3194703	\N	\N	EFO	5	EFO	Genetic epidermal disorder	CEDNIK syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:66631	"" []	3194704	\N	\N	EFO	5	EFO	Genetic epidermal disorder	CEDNIK syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:66631	"" []	6410299	\N	\N	EFO	9	EFO	disposition	CEDNIK syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:66631	"" []	4400707	\N	\N	EFO	6	EFO	Rare genetic skin disease	CEDNIK syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:66631	"" []	6808123	\N	\N	EFO	10	EFO	material property	CEDNIK syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66631	"" []	5417287	\N	\N	EFO	7	EFO	genetic disorder	CEDNIK syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:66631	"" []	5417288	\N	\N	EFO	7	EFO	skin disease	CEDNIK syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:66631	"" []	7048780	\N	\N	EFO	11	EFO	experimental factor	CEDNIK syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66631	"" []	6152397	\N	\N	EFO	8	EFO	disease	CEDNIK syndrome
Orphanet:66633	\N	\N	"" []	Orphanet:66633	"" []	77649	\N	\N	EFO	0	EFO	Sensorineural hearing loss - early graying - essential tremor	Sensorineural hearing loss - early graying - essential tremor
Orphanet:307061	Orphanet:66633	\N	"" []	Orphanet:66633	"" []	221759	\N	\N	EFO	1	EFO	Rare genetic tremor disorder	Sensorineural hearing loss - early graying - essential tremor
Orphanet:90642	Orphanet:66633	\N	"" []	Orphanet:66633	"" []	221760	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Sensorineural hearing loss - early graying - essential tremor
Orphanet:183521	Orphanet:307061	\N	"" []	Orphanet:66633	"" []	577720	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Sensorineural hearing loss - early graying - essential tremor
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:66633	"" []	577721	\N	\N	EFO	2	EFO	Rare genetic deafness	Sensorineural hearing loss - early graying - essential tremor
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:66633	"" []	1161122	\N	\N	EFO	3	EFO	movement disorder	Sensorineural hearing loss - early graying - essential tremor
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:66633	"" []	1161123	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Sensorineural hearing loss - early graying - essential tremor
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66633	"" []	1161124	\N	\N	EFO	3	EFO	genetic disorder	Sensorineural hearing loss - early graying - essential tremor
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:66633	"" []	1161125	\N	\N	EFO	3	EFO	auditory system disease	Sensorineural hearing loss - early graying - essential tremor
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:66633	"" []	2044576	\N	\N	EFO	4	EFO	nervous system disease	Sensorineural hearing loss - early graying - essential tremor
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66633	"" []	2044577	\N	\N	EFO	4	EFO	genetic disorder	Sensorineural hearing loss - early graying - essential tremor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66633	"" []	3194706	\N	\N	EFO	5	EFO	disease	Sensorineural hearing loss - early graying - essential tremor
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:66633	"" []	2044579	\N	\N	EFO	4	EFO	sensory system disease	Sensorineural hearing loss - early graying - essential tremor
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66633	"" []	4400709	\N	\N	EFO	6	EFO	disease	Sensorineural hearing loss - early graying - essential tremor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:66633	"" []	5183161	\N	\N	EFO	7	EFO	disposition	Sensorineural hearing loss - early graying - essential tremor
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:66633	"" []	3194708	\N	\N	EFO	5	EFO	nervous system disease	Sensorineural hearing loss - early graying - essential tremor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:66633	"" []	5877620	\N	\N	EFO	8	EFO	material property	Sensorineural hearing loss - early graying - essential tremor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:66633	"" []	6470852	\N	\N	EFO	9	EFO	experimental factor	Sensorineural hearing loss - early graying - essential tremor
Orphanet:66634	\N	\N	"" []	Orphanet:66634	"" []	77650	\N	\N	EFO	0	EFO	Dilated cardiomyopathy with ataxia	Dilated cardiomyopathy with ataxia
Orphanet:217619	Orphanet:66634	\N	"" []	Orphanet:66634	"" []	221761	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	Dilated cardiomyopathy with ataxia
Orphanet:289902	Orphanet:66634	\N	"" []	Orphanet:66634	"" []	221762	\N	\N	EFO	1	EFO	3-methylglutaconic aciduria	Dilated cardiomyopathy with ataxia
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:66634	"" []	577722	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Dilated cardiomyopathy with ataxia
Orphanet:79163	Orphanet:289902	\N	"" []	Orphanet:66634	"" []	577723	\N	\N	EFO	2	EFO	Classic organic aciduria	Dilated cardiomyopathy with ataxia
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:66634	"" []	1161126	\N	\N	EFO	3	EFO	cardiomyopathy	Dilated cardiomyopathy with ataxia
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:66634	"" []	1161127	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Dilated cardiomyopathy with ataxia
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:66634	"" []	1161128	\N	\N	EFO	3	EFO	Organic aciduria	Dilated cardiomyopathy with ataxia
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:66634	"" []	2044580	\N	\N	EFO	4	EFO	heart disease	Dilated cardiomyopathy with ataxia
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66634	"" []	2044581	\N	\N	EFO	4	EFO	genetic disorder	Dilated cardiomyopathy with ataxia
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:66634	"" []	2044582	\N	\N	EFO	4	EFO	heart disease	Dilated cardiomyopathy with ataxia
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:66634	"" []	2044583	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Dilated cardiomyopathy with ataxia
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:66634	"" []	3194709	\N	\N	EFO	5	EFO	cardiovascular disease	Dilated cardiomyopathy with ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66634	"" []	5417292	\N	\N	EFO	7	EFO	disease	Dilated cardiomyopathy with ataxia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:66634	"" []	3194711	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Dilated cardiomyopathy with ataxia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66634	"" []	4400710	\N	\N	EFO	6	EFO	disease	Dilated cardiomyopathy with ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:66634	"" []	5877621	\N	\N	EFO	8	EFO	disposition	Dilated cardiomyopathy with ataxia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66634	"" []	4400712	\N	\N	EFO	6	EFO	genetic disorder	Dilated cardiomyopathy with ataxia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:66634	"" []	4400713	\N	\N	EFO	6	EFO	metabolic disease	Dilated cardiomyopathy with ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:66634	"" []	6470853	\N	\N	EFO	9	EFO	material property	Dilated cardiomyopathy with ataxia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66634	"" []	5417293	\N	\N	EFO	7	EFO	disease	Dilated cardiomyopathy with ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:66634	"" []	6848742	\N	\N	EFO	10	EFO	experimental factor	Dilated cardiomyopathy with ataxia
Orphanet:66637	\N	\N	"" []	Orphanet:66637	"" []	77651	\N	\N	EFO	0	EFO	Diaphanospondylodysostosis	Diaphanospondylodysostosis
Orphanet:93434	Orphanet:66637	\N	"" []	Orphanet:66637	"" []	221763	\N	\N	EFO	1	EFO	Spondylodysplastic dysplasia	Diaphanospondylodysostosis
Orphanet:93454	Orphanet:66637	\N	"" []	Orphanet:66637	"" []	221764	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Diaphanospondylodysostosis
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:66637	"" []	577724	\N	\N	EFO	2	EFO	Primary bone dysplasia	Diaphanospondylodysostosis
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:66637	"" []	577725	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Diaphanospondylodysostosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:66637	"" []	1161129	\N	\N	EFO	3	EFO	Rare genetic bone disease	Diaphanospondylodysostosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:66637	"" []	1161130	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Diaphanospondylodysostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:66637	"" []	1161131	\N	\N	EFO	3	EFO	Rare genetic bone disease	Diaphanospondylodysostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:66637	"" []	1161132	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Diaphanospondylodysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66637	"" []	2044584	\N	\N	EFO	4	EFO	genetic disorder	Diaphanospondylodysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:66637	"" []	2044585	\N	\N	EFO	4	EFO	bone disease	Diaphanospondylodysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:66637	"" []	2044586	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Diaphanospondylodysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66637	"" []	4400716	\N	\N	EFO	6	EFO	disease	Diaphanospondylodysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:66637	"" []	3194713	\N	\N	EFO	5	EFO	skeletal system disease	Diaphanospondylodysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:66637	"" []	3194714	\N	\N	EFO	5	EFO	genetic disorder	Diaphanospondylodysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:66637	"" []	5183163	\N	\N	EFO	7	EFO	disposition	Diaphanospondylodysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:66637	"" []	4400715	\N	\N	EFO	6	EFO	disease	Diaphanospondylodysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:66637	"" []	5998506	\N	\N	EFO	8	EFO	material property	Diaphanospondylodysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:66637	"" []	6551624	\N	\N	EFO	9	EFO	experimental factor	Diaphanospondylodysostosis
Orphanet:667	\N	\N	"" []	Orphanet:667	"" []	77652	\N	\N	EFO	0	EFO	Autosomal recessive malignant osteopetrosis	Autosomal recessive malignant osteopetrosis
Orphanet:2781	Orphanet:667	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:667	"" []	221765	\N	\N	EFO	1	EFO	Osteopetrosis	Autosomal recessive malignant osteopetrosis
Orphanet:98677	Orphanet:667	\N	"" []	Orphanet:667	"" []	221766	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	Autosomal recessive malignant osteopetrosis
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:667	"" []	577726	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Autosomal recessive malignant osteopetrosis
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:667	"" []	577727	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	Autosomal recessive malignant osteopetrosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:667	"" []	1161133	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal recessive malignant osteopetrosis
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:667	"" []	1161134	\N	\N	EFO	3	EFO	Genetic optic atrophy	Autosomal recessive malignant osteopetrosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:667	"" []	2044587	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal recessive malignant osteopetrosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:667	"" []	2044588	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal recessive malignant osteopetrosis
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:667	"" []	2044589	\N	\N	EFO	4	EFO	Optic neuropathy	Autosomal recessive malignant osteopetrosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:667	"" []	3194715	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive malignant osteopetrosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:667	"" []	3194716	\N	\N	EFO	5	EFO	bone disease	Autosomal recessive malignant osteopetrosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:667	"" []	3194717	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive malignant osteopetrosis
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:667	"" []	3194718	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive malignant osteopetrosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:667	"" []	5417297	\N	\N	EFO	7	EFO	disease	Autosomal recessive malignant osteopetrosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:667	"" []	4400718	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal recessive malignant osteopetrosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:667	"" []	4400719	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive malignant osteopetrosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:667	"" []	4400720	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive malignant osteopetrosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:667	"" []	4400721	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive malignant osteopetrosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:667	"" []	5998507	\N	\N	EFO	8	EFO	disposition	Autosomal recessive malignant osteopetrosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:667	"" []	5417296	\N	\N	EFO	7	EFO	disease	Autosomal recessive malignant osteopetrosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:667	"" []	5417298	\N	\N	EFO	7	EFO	disease	Autosomal recessive malignant osteopetrosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:667	"" []	6551625	\N	\N	EFO	9	EFO	material property	Autosomal recessive malignant osteopetrosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:667	"" []	6889500	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive malignant osteopetrosis
Orphanet:669	\N	\N	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	77653	\N	\N	EFO	0	EFO	Otopalatodigital syndrome	Otopalatodigital syndrome
Orphanet:102283	Orphanet:669	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	221767	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Otopalatodigital syndrome
Orphanet:156237	Orphanet:669	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	221768	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Otopalatodigital syndrome
Orphanet:183576	Orphanet:669	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	221769	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Otopalatodigital syndrome
Orphanet:364541	Orphanet:669	\N	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	221770	\N	\N	EFO	1	EFO	Frontootopalatodigital syndrome	Otopalatodigital syndrome
Orphanet:90642	Orphanet:669	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	221771	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Otopalatodigital syndrome
Orphanet:98464	Orphanet:669	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	221772	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Otopalatodigital syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	577728	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Otopalatodigital syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	577729	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Otopalatodigital syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	577730	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Otopalatodigital syndrome
Orphanet:364526	Orphanet:364541	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	577731	\N	\N	EFO	2	EFO	Primary bone dysplasia	Otopalatodigital syndrome
Orphanet:93425	Orphanet:364541	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	577732	\N	\N	EFO	2	EFO	Filamin-related bone disorder	Otopalatodigital syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	577733	\N	\N	EFO	2	EFO	Rare genetic deafness	Otopalatodigital syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	577734	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Otopalatodigital syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	1161135	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Otopalatodigital syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	1161136	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Otopalatodigital syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	3194719	\N	\N	EFO	5	EFO	genetic disorder	Otopalatodigital syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	1161138	\N	\N	EFO	3	EFO	Rare genetic bone disease	Otopalatodigital syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	1161139	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Otopalatodigital syndrome
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	1161140	\N	\N	EFO	3	EFO	Rare bone disease related to a common gene or pathway defect	Otopalatodigital syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	1161141	\N	\N	EFO	3	EFO	genetic disorder	Otopalatodigital syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	1161142	\N	\N	EFO	3	EFO	auditory system disease	Otopalatodigital syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	1161143	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Otopalatodigital syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	2044591	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Otopalatodigital syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	4066976	\N	\N	EFO	6	EFO	disease	Otopalatodigital syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	3194722	\N	\N	EFO	5	EFO	genetic disorder	Otopalatodigital syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	3194723	\N	\N	EFO	5	EFO	bone disease	Otopalatodigital syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	2044595	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Otopalatodigital syndrome
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	2044596	\N	\N	EFO	4	EFO	Rare genetic bone disease	Otopalatodigital syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	2044597	\N	\N	EFO	4	EFO	sensory system disease	Otopalatodigital syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	2044598	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Otopalatodigital syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	5998509	\N	\N	EFO	8	EFO	disposition	Otopalatodigital syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	4134249	\N	\N	EFO	6	EFO	skeletal system disease	Otopalatodigital syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	3194724	\N	\N	EFO	5	EFO	nervous system disease	Otopalatodigital syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	3194725	\N	\N	EFO	5	EFO	genetic disorder	Otopalatodigital syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	6410300	\N	\N	EFO	9	EFO	material property	Otopalatodigital syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	5183165	\N	\N	EFO	7	EFO	disease	Otopalatodigital syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	4400724	\N	\N	EFO	6	EFO	disease	Otopalatodigital syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:669	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	6808124	\N	\N	EFO	10	EFO	experimental factor	Otopalatodigital syndrome
Orphanet:67036	\N	\N	"" []	Orphanet:67036	"" []	77654	\N	\N	EFO	0	EFO	Autosomal dominant optic atrophy and cataract	Autosomal dominant optic atrophy and cataract
Orphanet:254822	Orphanet:67036	\N	"" []	Orphanet:67036	"" []	221773	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder with no known mechanism	Autosomal dominant optic atrophy and cataract
Orphanet:98672	Orphanet:67036	\N	"" []	Orphanet:67036	"" []	221774	\N	\N	EFO	1	EFO	Autosomal dominant optic atrophy	Autosomal dominant optic atrophy and cataract
Orphanet:2443	Orphanet:254822	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:67036	"" []	577735	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal dominant optic atrophy and cataract
Orphanet:103	Orphanet:98672	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:67036	"" []	577736	\N	\N	EFO	2	EFO	Genetic optic atrophy	Autosomal dominant optic atrophy and cataract
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:67036	"" []	1161144	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal dominant optic atrophy and cataract
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:67036	"" []	1161145	\N	\N	EFO	3	EFO	Optic neuropathy	Autosomal dominant optic atrophy and cataract
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:67036	"" []	2044599	\N	\N	EFO	4	EFO	Mitochondrial disease	Autosomal dominant optic atrophy and cataract
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:67036	"" []	2044600	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal dominant optic atrophy and cataract
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:67036	"" []	3194726	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Autosomal dominant optic atrophy and cataract
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:67036	"" []	3194727	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Autosomal dominant optic atrophy and cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67036	"" []	3194728	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant optic atrophy and cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:67036	"" []	3194729	\N	\N	EFO	5	EFO	eye disease	Autosomal dominant optic atrophy and cataract
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:67036	"" []	4400725	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant optic atrophy and cataract
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:67036	"" []	4400726	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Autosomal dominant optic atrophy and cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67036	"" []	6152401	\N	\N	EFO	8	EFO	disease	Autosomal dominant optic atrophy and cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67036	"" []	4400728	\N	\N	EFO	6	EFO	disease	Autosomal dominant optic atrophy and cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67036	"" []	5417300	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant optic atrophy and cataract
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67036	"" []	5417301	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant optic atrophy and cataract
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:67036	"" []	5417302	\N	\N	EFO	7	EFO	metabolic disease	Autosomal dominant optic atrophy and cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:67036	"" []	6470855	\N	\N	EFO	9	EFO	disposition	Autosomal dominant optic atrophy and cataract
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67036	"" []	6152402	\N	\N	EFO	8	EFO	disease	Autosomal dominant optic atrophy and cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:67036	"" []	6848743	\N	\N	EFO	10	EFO	material property	Autosomal dominant optic atrophy and cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:67036	"" []	7068520	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant optic atrophy and cataract
Orphanet:67041	\N	\N	"" []	Orphanet:67041	"" []	77655	\N	\N	EFO	0	EFO	Hyaluronidase deficiency	Hyaluronidase deficiency
Orphanet:79213	Orphanet:67041	\N	"" []	Orphanet:67041	"" []	221775	\N	\N	EFO	1	EFO	Mucopolysaccharidosis	Hyaluronidase deficiency
Orphanet:93448	Orphanet:67041	\N	"" []	Orphanet:67041	"" []	221776	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Hyaluronidase deficiency
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:67041	"" []	577737	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Hyaluronidase deficiency
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:67041	"" []	577738	\N	\N	EFO	2	EFO	Lysosomal disease	Hyaluronidase deficiency
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:67041	"" []	577739	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Hyaluronidase deficiency
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:67041	"" []	577740	\N	\N	EFO	2	EFO	Rare genetic bone disease	Hyaluronidase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:67041	"" []	1161146	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hyaluronidase deficiency
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:67041	"" []	1161147	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hyaluronidase deficiency
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:67041	"" []	1161148	\N	\N	EFO	3	EFO	Rare genetic eye disease	Hyaluronidase deficiency
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67041	"" []	1161149	\N	\N	EFO	3	EFO	genetic disorder	Hyaluronidase deficiency
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:67041	"" []	1161150	\N	\N	EFO	3	EFO	bone disease	Hyaluronidase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67041	"" []	2044601	\N	\N	EFO	4	EFO	genetic disorder	Hyaluronidase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67041	"" []	2044602	\N	\N	EFO	4	EFO	genetic disorder	Hyaluronidase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:67041	"" []	2044603	\N	\N	EFO	4	EFO	metabolic disease	Hyaluronidase deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67041	"" []	2044604	\N	\N	EFO	4	EFO	genetic disorder	Hyaluronidase deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:67041	"" []	2044605	\N	\N	EFO	4	EFO	eye disease	Hyaluronidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67041	"" []	3194730	\N	\N	EFO	5	EFO	disease	Hyaluronidase deficiency
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:67041	"" []	2044607	\N	\N	EFO	4	EFO	skeletal system disease	Hyaluronidase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67041	"" []	3194731	\N	\N	EFO	5	EFO	disease	Hyaluronidase deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67041	"" []	3194732	\N	\N	EFO	5	EFO	disease	Hyaluronidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:67041	"" []	4134250	\N	\N	EFO	6	EFO	disposition	Hyaluronidase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67041	"" []	3194734	\N	\N	EFO	5	EFO	disease	Hyaluronidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:67041	"" []	5183166	\N	\N	EFO	7	EFO	material property	Hyaluronidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:67041	"" []	5998510	\N	\N	EFO	8	EFO	experimental factor	Hyaluronidase deficiency
Orphanet:67042	\N	\N	"" []	Orphanet:67042	"" []	77656	\N	\N	EFO	0	EFO	Late-onset retinal degeneration	Late-onset retinal degeneration
Orphanet:71862	Orphanet:67042	\N	"" []	Orphanet:67042	"" []	221777	\N	\N	EFO	1	EFO	Retinal dystrophy	Late-onset retinal degeneration
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:67042	"" []	577741	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Late-onset retinal degeneration
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:67042	"" []	1161151	\N	\N	EFO	3	EFO	Rare genetic eye disease	Late-onset retinal degeneration
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67042	"" []	2044608	\N	\N	EFO	4	EFO	genetic disorder	Late-onset retinal degeneration
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:67042	"" []	2044609	\N	\N	EFO	4	EFO	eye disease	Late-onset retinal degeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67042	"" []	3194735	\N	\N	EFO	5	EFO	disease	Late-onset retinal degeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67042	"" []	3194736	\N	\N	EFO	5	EFO	disease	Late-onset retinal degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:67042	"" []	4400730	\N	\N	EFO	6	EFO	disposition	Late-onset retinal degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:67042	"" []	5417305	\N	\N	EFO	7	EFO	material property	Late-onset retinal degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:67042	"" []	6152404	\N	\N	EFO	8	EFO	experimental factor	Late-onset retinal degeneration
Orphanet:67044	\N	\N	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	77657	\N	\N	EFO	0	EFO	Thrombocytopenia with congenital dyserythropoietic anemia	Thrombocytopenia with congenital dyserythropoietic anemia
Orphanet:220452	Orphanet:67044	\N	"" []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	221778	\N	\N	EFO	1	EFO	Inherited giant platelet disorder	Thrombocytopenia with congenital dyserythropoietic anemia
Orphanet:85	Orphanet:67044	\N	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	221779	\N	\N	EFO	1	EFO	Congenital dyserythropoietic anemia	Thrombocytopenia with congenital dyserythropoietic anemia
Orphanet:275729	Orphanet:220452	\N	"" []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	577742	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Thrombocytopenia with congenital dyserythropoietic anemia
Orphanet:293830	Orphanet:85	\N	"" []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	577743	\N	\N	EFO	2	EFO	Constitutional dyserythropoietic anemia	Thrombocytopenia with congenital dyserythropoietic anemia
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	1161152	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Thrombocytopenia with congenital dyserythropoietic anemia
Orphanet:183651	Orphanet:293830	\N	"" []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	1161153	\N	\N	EFO	3	EFO	Rare constitutional anemia	Thrombocytopenia with congenital dyserythropoietic anemia
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	2044610	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Thrombocytopenia with congenital dyserythropoietic anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	2044611	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Thrombocytopenia with congenital dyserythropoietic anemia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	3194737	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Thrombocytopenia with congenital dyserythropoietic anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	4400731	\N	\N	EFO	6	EFO	genetic disorder	Thrombocytopenia with congenital dyserythropoietic anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	4400732	\N	\N	EFO	6	EFO	hematological system disease	Thrombocytopenia with congenital dyserythropoietic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	5183167	\N	\N	EFO	7	EFO	disease	Thrombocytopenia with congenital dyserythropoietic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	5183168	\N	\N	EFO	7	EFO	disease	Thrombocytopenia with congenital dyserythropoietic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	5998511	\N	\N	EFO	8	EFO	disposition	Thrombocytopenia with congenital dyserythropoietic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	6551626	\N	\N	EFO	9	EFO	material property	Thrombocytopenia with congenital dyserythropoietic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:67044	"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." []	6889501	\N	\N	EFO	10	EFO	experimental factor	Thrombocytopenia with congenital dyserythropoietic anemia
Orphanet:67045	\N	\N	"" []	Orphanet:67045	"" []	77658	\N	\N	EFO	0	EFO	X-linked intellectual disability with isolated growth hormone deficiency	X-linked intellectual disability with isolated growth hormone deficiency
Orphanet:231692	Orphanet:67045	\N	"" []	Orphanet:67045	"" []	221780	\N	\N	EFO	1	EFO	Isolated growth hormone deficiency type III	X-linked intellectual disability with isolated growth hormone deficiency
Orphanet:98464	Orphanet:67045	\N	"" []	Orphanet:67045	"" []	221781	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability with isolated growth hormone deficiency
Orphanet:631	Orphanet:231692	\N	"" []	Orphanet:67045	"" []	577744	\N	\N	EFO	2	EFO	Non-acquired isolated growth hormone deficiency	X-linked intellectual disability with isolated growth hormone deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:67045	"" []	577745	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability with isolated growth hormone deficiency
Orphanet:95488	Orphanet:631	\N	"" []	Orphanet:67045	"" []	1161154	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	X-linked intellectual disability with isolated growth hormone deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:67045	"" []	1161155	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability with isolated growth hormone deficiency
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:67045	"" []	2044612	\N	\N	EFO	4	EFO	Pituitary deficiency	X-linked intellectual disability with isolated growth hormone deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:67045	"" []	2044613	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability with isolated growth hormone deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:67045	"" []	3194740	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	X-linked intellectual disability with isolated growth hormone deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67045	"" []	3194741	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability with isolated growth hormone deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:67045	"" []	4400735	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	X-linked intellectual disability with isolated growth hormone deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67045	"" []	6152406	\N	\N	EFO	8	EFO	disease	X-linked intellectual disability with isolated growth hormone deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67045	"" []	5417307	\N	\N	EFO	7	EFO	genetic disorder	X-linked intellectual disability with isolated growth hormone deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:67045	"" []	5417308	\N	\N	EFO	7	EFO	endocrine system disease	X-linked intellectual disability with isolated growth hormone deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:67045	"" []	6470856	\N	\N	EFO	9	EFO	disposition	X-linked intellectual disability with isolated growth hormone deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67045	"" []	6152407	\N	\N	EFO	8	EFO	disease	X-linked intellectual disability with isolated growth hormone deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:67045	"" []	6848744	\N	\N	EFO	10	EFO	material property	X-linked intellectual disability with isolated growth hormone deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:67045	"" []	7068521	\N	\N	EFO	11	EFO	experimental factor	X-linked intellectual disability with isolated growth hormone deficiency
Orphanet:67046	\N	\N	"" []	Orphanet:67046	"" []	77659	\N	\N	EFO	0	EFO	3-methylglutaconic aciduria type 1	3-methylglutaconic aciduria type 1
Orphanet:289902	Orphanet:67046	\N	"" []	Orphanet:67046	"" []	221782	\N	\N	EFO	1	EFO	3-methylglutaconic aciduria	3-methylglutaconic aciduria type 1
Orphanet:79163	Orphanet:289902	\N	"" []	Orphanet:67046	"" []	577746	\N	\N	EFO	2	EFO	Classic organic aciduria	3-methylglutaconic aciduria type 1
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:67046	"" []	1161156	\N	\N	EFO	3	EFO	Organic aciduria	3-methylglutaconic aciduria type 1
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:67046	"" []	2044614	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	3-methylglutaconic aciduria type 1
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:67046	"" []	3194742	\N	\N	EFO	5	EFO	Inborn errors of metabolism	3-methylglutaconic aciduria type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67046	"" []	4400737	\N	\N	EFO	6	EFO	genetic disorder	3-methylglutaconic aciduria type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:67046	"" []	4400738	\N	\N	EFO	6	EFO	metabolic disease	3-methylglutaconic aciduria type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67046	"" []	5417310	\N	\N	EFO	7	EFO	disease	3-methylglutaconic aciduria type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67046	"" []	5417311	\N	\N	EFO	7	EFO	disease	3-methylglutaconic aciduria type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:67046	"" []	6152409	\N	\N	EFO	8	EFO	disposition	3-methylglutaconic aciduria type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:67046	"" []	6634052	\N	\N	EFO	9	EFO	material property	3-methylglutaconic aciduria type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:67046	"" []	6926227	\N	\N	EFO	10	EFO	experimental factor	3-methylglutaconic aciduria type 1
Orphanet:67047	\N	\N	"" []	Orphanet:67047	"" []	77660	\N	\N	EFO	0	EFO	3-methylglutaconic aciduria type 3	3-methylglutaconic aciduria type 3
Orphanet:289902	Orphanet:67047	\N	"" []	Orphanet:67047	"" []	221783	\N	\N	EFO	1	EFO	3-methylglutaconic aciduria	3-methylglutaconic aciduria type 3
Orphanet:98677	Orphanet:67047	\N	"" []	Orphanet:67047	"" []	221784	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	3-methylglutaconic aciduria type 3
Orphanet:79163	Orphanet:289902	\N	"" []	Orphanet:67047	"" []	577747	\N	\N	EFO	2	EFO	Classic organic aciduria	3-methylglutaconic aciduria type 3
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:67047	"" []	577748	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	3-methylglutaconic aciduria type 3
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:67047	"" []	1161157	\N	\N	EFO	3	EFO	Organic aciduria	3-methylglutaconic aciduria type 3
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:67047	"" []	1161158	\N	\N	EFO	3	EFO	Genetic optic atrophy	3-methylglutaconic aciduria type 3
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:67047	"" []	2044615	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	3-methylglutaconic aciduria type 3
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:67047	"" []	2044616	\N	\N	EFO	4	EFO	Optic neuropathy	3-methylglutaconic aciduria type 3
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:67047	"" []	3194743	\N	\N	EFO	5	EFO	Inborn errors of metabolism	3-methylglutaconic aciduria type 3
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:67047	"" []	3194744	\N	\N	EFO	5	EFO	Rare genetic eye disease	3-methylglutaconic aciduria type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67047	"" []	4400739	\N	\N	EFO	6	EFO	genetic disorder	3-methylglutaconic aciduria type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:67047	"" []	4400740	\N	\N	EFO	6	EFO	metabolic disease	3-methylglutaconic aciduria type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67047	"" []	4400741	\N	\N	EFO	6	EFO	genetic disorder	3-methylglutaconic aciduria type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:67047	"" []	4400742	\N	\N	EFO	6	EFO	eye disease	3-methylglutaconic aciduria type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67047	"" []	5417312	\N	\N	EFO	7	EFO	disease	3-methylglutaconic aciduria type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67047	"" []	5417313	\N	\N	EFO	7	EFO	disease	3-methylglutaconic aciduria type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67047	"" []	5417314	\N	\N	EFO	7	EFO	disease	3-methylglutaconic aciduria type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:67047	"" []	6152410	\N	\N	EFO	8	EFO	disposition	3-methylglutaconic aciduria type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:67047	"" []	6634053	\N	\N	EFO	9	EFO	material property	3-methylglutaconic aciduria type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:67047	"" []	6926228	\N	\N	EFO	10	EFO	experimental factor	3-methylglutaconic aciduria type 3
Orphanet:67048	\N	\N	"" []	Orphanet:67048	"" []	77661	\N	\N	EFO	0	EFO	3-methylglutaconic aciduria type 4	3-methylglutaconic aciduria type 4
Orphanet:289902	Orphanet:67048	\N	"" []	Orphanet:67048	"" []	221785	\N	\N	EFO	1	EFO	3-methylglutaconic aciduria	3-methylglutaconic aciduria type 4
Orphanet:79163	Orphanet:289902	\N	"" []	Orphanet:67048	"" []	577749	\N	\N	EFO	2	EFO	Classic organic aciduria	3-methylglutaconic aciduria type 4
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:67048	"" []	1161159	\N	\N	EFO	3	EFO	Organic aciduria	3-methylglutaconic aciduria type 4
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:67048	"" []	2044617	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	3-methylglutaconic aciduria type 4
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:67048	"" []	3194745	\N	\N	EFO	5	EFO	Inborn errors of metabolism	3-methylglutaconic aciduria type 4
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:67048	"" []	4400743	\N	\N	EFO	6	EFO	genetic disorder	3-methylglutaconic aciduria type 4
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:67048	"" []	4400744	\N	\N	EFO	6	EFO	metabolic disease	3-methylglutaconic aciduria type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67048	"" []	5417315	\N	\N	EFO	7	EFO	disease	3-methylglutaconic aciduria type 4
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:67048	"" []	5417316	\N	\N	EFO	7	EFO	disease	3-methylglutaconic aciduria type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:67048	"" []	6152411	\N	\N	EFO	8	EFO	disposition	3-methylglutaconic aciduria type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:67048	"" []	6634054	\N	\N	EFO	9	EFO	material property	3-methylglutaconic aciduria type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:67048	"" []	6926229	\N	\N	EFO	10	EFO	experimental factor	3-methylglutaconic aciduria type 4
Orphanet:672	\N	\N	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	77662	\N	\N	EFO	0	EFO	Pallister-Hall syndrome	Pallister-Hall syndrome
Orphanet:117573	Orphanet:672	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	221786	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Pallister-Hall syndrome
Orphanet:294959	Orphanet:672	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	221787	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Pallister-Hall syndrome
Orphanet:330197	Orphanet:672	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	221788	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Pallister-Hall syndrome
Orphanet:93547	Orphanet:672	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	221789	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Pallister-Hall syndrome
Orphanet:95495	Orphanet:672	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	221790	\N	\N	EFO	1	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Pallister-Hall syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	577750	\N	\N	EFO	2	EFO	Anorectal malformation	Pallister-Hall syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	577751	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Pallister-Hall syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	577752	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Pallister-Hall syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	577753	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Pallister-Hall syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	577754	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Pallister-Hall syndrome
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	577755	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	Pallister-Hall syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	1161160	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Pallister-Hall syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	1161161	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Pallister-Hall syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	1161162	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Pallister-Hall syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	1161163	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pallister-Hall syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	1161164	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pallister-Hall syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	1161165	\N	\N	EFO	3	EFO	Rare genetic renal disease	Pallister-Hall syndrome
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	1161166	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Pallister-Hall syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	2044618	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pallister-Hall syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	2044619	\N	\N	EFO	4	EFO	Rare genetic bone disease	Pallister-Hall syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	2044620	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Pallister-Hall syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	2044621	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pallister-Hall syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	4400746	\N	\N	EFO	6	EFO	genetic disorder	Pallister-Hall syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	2044623	\N	\N	EFO	4	EFO	genetic disorder	Pallister-Hall syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	2044624	\N	\N	EFO	4	EFO	Pituitary deficiency	Pallister-Hall syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	3194747	\N	\N	EFO	5	EFO	genetic disorder	Pallister-Hall syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	3194748	\N	\N	EFO	5	EFO	bone disease	Pallister-Hall syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	3194749	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pallister-Hall syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	6152413	\N	\N	EFO	8	EFO	disease	Pallister-Hall syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	3194751	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Pallister-Hall syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	4400745	\N	\N	EFO	6	EFO	skeletal system disease	Pallister-Hall syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	6410301	\N	\N	EFO	9	EFO	disposition	Pallister-Hall syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	4400748	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Pallister-Hall syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	5417317	\N	\N	EFO	7	EFO	disease	Pallister-Hall syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	6808125	\N	\N	EFO	10	EFO	material property	Pallister-Hall syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	5417319	\N	\N	EFO	7	EFO	genetic disorder	Pallister-Hall syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	5417320	\N	\N	EFO	7	EFO	endocrine system disease	Pallister-Hall syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	7048781	\N	\N	EFO	11	EFO	experimental factor	Pallister-Hall syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:672	"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." []	6152414	\N	\N	EFO	8	EFO	disease	Pallister-Hall syndrome
Orphanet:674	\N	\N	"" []	Orphanet:674	"" []	77663	\N	\N	EFO	0	EFO	Accessory pancreas	Accessory pancreas
Orphanet:108971	Orphanet:674	\N	"" []	Orphanet:674	"" []	221791	\N	\N	EFO	1	EFO	Non-syndromic visceral malformation	Accessory pancreas
Orphanet:183548	Orphanet:108971	\N	"" []	Orphanet:674	"" []	577756	\N	\N	EFO	2	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Accessory pancreas
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:674	"" []	1161167	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Accessory pancreas
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:674	"" []	2044625	\N	\N	EFO	4	EFO	genetic disorder	Accessory pancreas
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:674	"" []	3194752	\N	\N	EFO	5	EFO	disease	Accessory pancreas
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:674	"" []	4400749	\N	\N	EFO	6	EFO	disposition	Accessory pancreas
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:674	"" []	5417321	\N	\N	EFO	7	EFO	material property	Accessory pancreas
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:674	"" []	6152415	\N	\N	EFO	8	EFO	experimental factor	Accessory pancreas
Orphanet:675	\N	\N	"" []	Orphanet:675	"" []	77664	\N	\N	EFO	0	EFO	Annular pancreas	Annular pancreas
Orphanet:108971	Orphanet:675	\N	"" []	Orphanet:675	"" []	221792	\N	\N	EFO	1	EFO	Non-syndromic visceral malformation	Annular pancreas
Orphanet:183548	Orphanet:108971	\N	"" []	Orphanet:675	"" []	577757	\N	\N	EFO	2	EFO	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Annular pancreas
Orphanet:183530	Orphanet:183548	\N	"" []	Orphanet:675	"" []	1161168	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Annular pancreas
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:675	"" []	2044626	\N	\N	EFO	4	EFO	genetic disorder	Annular pancreas
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:675	"" []	3194753	\N	\N	EFO	5	EFO	disease	Annular pancreas
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:675	"" []	4400750	\N	\N	EFO	6	EFO	disposition	Annular pancreas
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:675	"" []	5417322	\N	\N	EFO	7	EFO	material property	Annular pancreas
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:675	"" []	6152416	\N	\N	EFO	8	EFO	experimental factor	Annular pancreas
Orphanet:676	\N	\N	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	77665	\N	\N	EFO	0	EFO	Hereditary chronic pancreatitis	Hereditary chronic pancreatitis
Orphanet:165661	Orphanet:676	\N	"" []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	221793	\N	\N	EFO	1	EFO	Genetic pancreatic disease	Hereditary chronic pancreatitis
Orphanet:183625	Orphanet:676	\N	"" []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	221794	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Hereditary chronic pancreatitis
EFO:0001379	Orphanet:165661	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	577758	\N	\N	EFO	2	EFO	endocrine system disease	Hereditary chronic pancreatitis
Orphanet:165652	Orphanet:165661	\N	"" []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	577759	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Hereditary chronic pancreatitis
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	577760	\N	\N	EFO	2	EFO	diabetes mellitus	Hereditary chronic pancreatitis
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	577761	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Hereditary chronic pancreatitis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	2044630	\N	\N	EFO	4	EFO	disease	Hereditary chronic pancreatitis
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	1161170	\N	\N	EFO	3	EFO	genetic disorder	Hereditary chronic pancreatitis
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	1161171	\N	\N	EFO	3	EFO	metabolic disease	Hereditary chronic pancreatitis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	1161172	\N	\N	EFO	3	EFO	genetic disorder	Hereditary chronic pancreatitis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	1161173	\N	\N	EFO	3	EFO	endocrine system disease	Hereditary chronic pancreatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	3000410	\N	\N	EFO	5	EFO	disposition	Hereditary chronic pancreatitis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	2044628	\N	\N	EFO	4	EFO	disease	Hereditary chronic pancreatitis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	2044629	\N	\N	EFO	4	EFO	disease	Hereditary chronic pancreatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	4134252	\N	\N	EFO	6	EFO	material property	Hereditary chronic pancreatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:676	"Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." []	5183170	\N	\N	EFO	7	EFO	experimental factor	Hereditary chronic pancreatitis
Orphanet:678	\N	\N	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	77666	\N	\N	EFO	0	EFO	Papillon-Lefvre syndrome	Papillon-Lefvre syndrome
Orphanet:183580	Orphanet:678	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	221795	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Papillon-Lefvre syndrome
Orphanet:183681	Orphanet:678	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	221796	\N	\N	EFO	1	EFO	Functional neutrophil defect	Papillon-Lefvre syndrome
Orphanet:307804	Orphanet:678	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	221797	\N	\N	EFO	1	EFO	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Papillon-Lefvre syndrome
Orphanet:309340	Orphanet:678	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	221798	\N	\N	EFO	1	EFO	Disorder of lysosomal-related organelles	Papillon-Lefvre syndrome
Orphanet:79373	Orphanet:678	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	221799	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Papillon-Lefvre syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	577762	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Papillon-Lefvre syndrome
Orphanet:101988	Orphanet:183681	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	577763	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Papillon-Lefvre syndrome
Orphanet:307711	Orphanet:307804	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	577764	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Papillon-Lefvre syndrome
Orphanet:68367	Orphanet:309340	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	577765	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Papillon-Lefvre syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	577766	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Papillon-Lefvre syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	577767	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Papillon-Lefvre syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	2044635	\N	\N	EFO	4	EFO	genetic disorder	Papillon-Lefvre syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	1161175	\N	\N	EFO	3	EFO	Primary immunodeficiency	Papillon-Lefvre syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	1161176	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Papillon-Lefvre syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	1161177	\N	\N	EFO	3	EFO	genetic disorder	Papillon-Lefvre syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	1161178	\N	\N	EFO	3	EFO	metabolic disease	Papillon-Lefvre syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	1161179	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Papillon-Lefvre syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	1161180	\N	\N	EFO	3	EFO	Rare genetic skin disease	Papillon-Lefvre syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	5817822	\N	\N	EFO	8	EFO	disease	Papillon-Lefvre syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	2044632	\N	\N	EFO	4	EFO	Rare genetic immune disease	Papillon-Lefvre syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	2044633	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Papillon-Lefvre syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	2044634	\N	\N	EFO	4	EFO	disease	Papillon-Lefvre syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	5417324	\N	\N	EFO	7	EFO	genetic disorder	Papillon-Lefvre syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	5417325	\N	\N	EFO	7	EFO	skin disease	Papillon-Lefvre syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	6378974	\N	\N	EFO	9	EFO	disposition	Papillon-Lefvre syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	3194756	\N	\N	EFO	5	EFO	genetic disorder	Papillon-Lefvre syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	3194757	\N	\N	EFO	5	EFO	immune system disease	Papillon-Lefvre syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	3194758	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Papillon-Lefvre syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	5817823	\N	\N	EFO	8	EFO	disease	Papillon-Lefvre syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	6778806	\N	\N	EFO	10	EFO	material property	Papillon-Lefvre syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	4400754	\N	\N	EFO	6	EFO	disease	Papillon-Lefvre syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	4400755	\N	\N	EFO	6	EFO	Rare genetic skin disease	Papillon-Lefvre syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:678	"Papillon-Lefvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." []	7029998	\N	\N	EFO	11	EFO	experimental factor	Papillon-Lefvre syndrome
Orphanet:679	\N	\N	"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." []	Orphanet:679	"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." []	77667	\N	\N	EFO	0	EFO	Malignant atrophic papulosis	Malignant atrophic papulosis
Orphanet:183444	Orphanet:679	\N	"" []	Orphanet:679	"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." []	221800	\N	\N	EFO	1	EFO	Genetic porokeratosis	Malignant atrophic papulosis
Orphanet:183426	Orphanet:183444	\N	"" []	Orphanet:679	"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." []	577768	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Malignant atrophic papulosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:679	"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." []	1161181	\N	\N	EFO	3	EFO	Rare genetic skin disease	Malignant atrophic papulosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:679	"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." []	2044638	\N	\N	EFO	4	EFO	genetic disorder	Malignant atrophic papulosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:679	"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." []	2044639	\N	\N	EFO	4	EFO	skin disease	Malignant atrophic papulosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:679	"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." []	3194760	\N	\N	EFO	5	EFO	disease	Malignant atrophic papulosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:679	"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." []	3194761	\N	\N	EFO	5	EFO	disease	Malignant atrophic papulosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:679	"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." []	4400756	\N	\N	EFO	6	EFO	disposition	Malignant atrophic papulosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:679	"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." []	5417326	\N	\N	EFO	7	EFO	material property	Malignant atrophic papulosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:679	"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." []	6152417	\N	\N	EFO	8	EFO	experimental factor	Malignant atrophic papulosis
Orphanet:681	\N	\N	"" []	Orphanet:681	"" []	77668	\N	\N	EFO	0	EFO	Hypokalemic periodic paralysis	Hypokalemic periodic paralysis
Orphanet:352298	Orphanet:681	\N	"" []	Orphanet:681	"" []	221801	\N	\N	EFO	1	EFO	Genetic muscular channelopathy	Hypokalemic periodic paralysis
Orphanet:371433	Orphanet:681	\N	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	Orphanet:681	"" []	221802	\N	\N	EFO	1	EFO	Genetic periodic paralysis	Hypokalemic periodic paralysis
Orphanet:183497	Orphanet:352298	\N	"" []	Orphanet:681	"" []	577769	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Hypokalemic periodic paralysis
Orphanet:206634	Orphanet:371433	\N	"" []	Orphanet:681	"" []	577770	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Hypokalemic periodic paralysis
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:681	"" []	2044642	\N	\N	EFO	4	EFO	muscular disease	Hypokalemic periodic paralysis
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:681	"" []	2044643	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hypokalemic periodic paralysis
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:681	"" []	1161184	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Hypokalemic periodic paralysis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:681	"" []	3000412	\N	\N	EFO	5	EFO	skeletal system disease	Hypokalemic periodic paralysis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:681	"" []	3000413	\N	\N	EFO	5	EFO	genetic disorder	Hypokalemic periodic paralysis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:681	"" []	4134254	\N	\N	EFO	6	EFO	disease	Hypokalemic periodic paralysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:681	"" []	4134255	\N	\N	EFO	6	EFO	disease	Hypokalemic periodic paralysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:681	"" []	5183172	\N	\N	EFO	7	EFO	disposition	Hypokalemic periodic paralysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:681	"" []	5998514	\N	\N	EFO	8	EFO	material property	Hypokalemic periodic paralysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:681	"" []	6551628	\N	\N	EFO	9	EFO	experimental factor	Hypokalemic periodic paralysis
Orphanet:682	\N	\N	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	77669	\N	\N	EFO	0	EFO	Hyperkalemic periodic paralysis	Hyperkalemic periodic paralysis
Orphanet:352298	Orphanet:682	\N	"" []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	221803	\N	\N	EFO	1	EFO	Genetic muscular channelopathy	Hyperkalemic periodic paralysis
Orphanet:371433	Orphanet:682	\N	"A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)" []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	221804	\N	\N	EFO	1	EFO	Genetic periodic paralysis	Hyperkalemic periodic paralysis
Orphanet:183497	Orphanet:352298	\N	"" []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	577771	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Hyperkalemic periodic paralysis
Orphanet:206634	Orphanet:371433	\N	"" []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	577772	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Hyperkalemic periodic paralysis
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	2044646	\N	\N	EFO	4	EFO	muscular disease	Hyperkalemic periodic paralysis
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	2044647	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hyperkalemic periodic paralysis
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	1161187	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Hyperkalemic periodic paralysis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	3000414	\N	\N	EFO	5	EFO	skeletal system disease	Hyperkalemic periodic paralysis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	3000415	\N	\N	EFO	5	EFO	genetic disorder	Hyperkalemic periodic paralysis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	4134256	\N	\N	EFO	6	EFO	disease	Hyperkalemic periodic paralysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	4134257	\N	\N	EFO	6	EFO	disease	Hyperkalemic periodic paralysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	5183173	\N	\N	EFO	7	EFO	disposition	Hyperkalemic periodic paralysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	5998515	\N	\N	EFO	8	EFO	material property	Hyperkalemic periodic paralysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:682	"Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." []	6551629	\N	\N	EFO	9	EFO	experimental factor	Hyperkalemic periodic paralysis
Orphanet:683	\N	\N	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	77670	\N	\N	EFO	0	EFO	Progressive supranuclear palsy	Progressive supranuclear palsy
EFO:0005815	Orphanet:683	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	221805	\N	\N	EFO	1	EFO	tauopathy	Progressive supranuclear palsy
Orphanet:276061	Orphanet:683	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	221806	\N	\N	EFO	1	EFO	Genetic frontotemporal degeneration with dementia	Progressive supranuclear palsy
Orphanet:306708	Orphanet:683	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	221807	\N	\N	EFO	1	EFO	Frontotemporal neurodegeneration with movement disorder	Progressive supranuclear palsy
Orphanet:98687	Orphanet:683	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	221808	\N	\N	EFO	1	EFO	Supranuclear oculomotor palsy	Progressive supranuclear palsy
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	577773	\N	\N	EFO	2	EFO	neurodegenerative disease	Progressive supranuclear palsy
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	577774	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease with dementia	Progressive supranuclear palsy
Orphanet:307058	Orphanet:306708	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	577775	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Progressive supranuclear palsy
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	577776	\N	\N	EFO	2	EFO	Oculomotor palsy	Progressive supranuclear palsy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	3194769	\N	\N	EFO	5	EFO	nervous system disease	Progressive supranuclear palsy
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	1161189	\N	\N	EFO	3	EFO	Genetic dementia	Progressive supranuclear palsy
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	1161190	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Progressive supranuclear palsy
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	1161191	\N	\N	EFO	3	EFO	neurodegenerative disease	Progressive supranuclear palsy
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	1161192	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Progressive supranuclear palsy
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	1161193	\N	\N	EFO	3	EFO	palsy	Progressive supranuclear palsy
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	1161194	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Progressive supranuclear palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	4066977	\N	\N	EFO	6	EFO	disease	Progressive supranuclear palsy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	2044649	\N	\N	EFO	4	EFO	brain disease	Progressive supranuclear palsy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	2044650	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	2044651	\N	\N	EFO	4	EFO	neurodegenerative disease	Progressive supranuclear palsy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	2044652	\N	\N	EFO	4	EFO	brain disease	Progressive supranuclear palsy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	2044653	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	2044655	\N	\N	EFO	4	EFO	movement disorder	Progressive supranuclear palsy
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	2044656	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Progressive supranuclear palsy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	2044657	\N	\N	EFO	4	EFO	nervous system disease	Progressive supranuclear palsy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	2044658	\N	\N	EFO	4	EFO	Rare genetic eye disease	Progressive supranuclear palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	5060197	\N	\N	EFO	7	EFO	disposition	Progressive supranuclear palsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	3194767	\N	\N	EFO	5	EFO	nervous system disease	Progressive supranuclear palsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	3194768	\N	\N	EFO	5	EFO	genetic disorder	Progressive supranuclear palsy
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	3194770	\N	\N	EFO	5	EFO	nervous system disease	Progressive supranuclear palsy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	3194771	\N	\N	EFO	5	EFO	genetic disorder	Progressive supranuclear palsy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	3194772	\N	\N	EFO	5	EFO	eye disease	Progressive supranuclear palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	5877625	\N	\N	EFO	8	EFO	material property	Progressive supranuclear palsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	4400760	\N	\N	EFO	6	EFO	disease	Progressive supranuclear palsy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	4400761	\N	\N	EFO	6	EFO	disease	Progressive supranuclear palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:683	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	6470859	\N	\N	EFO	9	EFO	experimental factor	Progressive supranuclear palsy
Orphanet:68334	\N	\N	"" []	Orphanet:68334	"" []	77671	\N	\N	EFO	0	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Rare hemorrhagic disorder due to a constitutional coagulation factors defect
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:68334	"" []	221809	\N	\N	EFO	1	EFO	Rare genetic coagulation disorder	Rare hemorrhagic disorder due to a constitutional coagulation factors defect
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:68334	"" []	577777	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Rare hemorrhagic disorder due to a constitutional coagulation factors defect
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68334	"" []	1161195	\N	\N	EFO	3	EFO	genetic disorder	Rare hemorrhagic disorder due to a constitutional coagulation factors defect
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:68334	"" []	1161196	\N	\N	EFO	3	EFO	hematological system disease	Rare hemorrhagic disorder due to a constitutional coagulation factors defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68334	"" []	2044659	\N	\N	EFO	4	EFO	disease	Rare hemorrhagic disorder due to a constitutional coagulation factors defect
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68334	"" []	2044660	\N	\N	EFO	4	EFO	disease	Rare hemorrhagic disorder due to a constitutional coagulation factors defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:68334	"" []	3194773	\N	\N	EFO	5	EFO	disposition	Rare hemorrhagic disorder due to a constitutional coagulation factors defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:68334	"" []	4400762	\N	\N	EFO	6	EFO	material property	Rare hemorrhagic disorder due to a constitutional coagulation factors defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:68334	"" []	5417330	\N	\N	EFO	7	EFO	experimental factor	Rare hemorrhagic disorder due to a constitutional coagulation factors defect
Orphanet:68335	\N	\N	"" []	Orphanet:68335	"" []	77672	\N	\N	EFO	0	EFO	Chromosomal anomaly	Chromosomal anomaly
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68335	"" []	221810	\N	\N	EFO	1	EFO	genetic disorder	Chromosomal anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68335	"" []	577778	\N	\N	EFO	2	EFO	disease	Chromosomal anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:68335	"" []	1161197	\N	\N	EFO	3	EFO	disposition	Chromosomal anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:68335	"" []	2044661	\N	\N	EFO	4	EFO	material property	Chromosomal anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:68335	"" []	3194774	\N	\N	EFO	5	EFO	experimental factor	Chromosomal anomaly
Orphanet:68336	\N	\N	"" []	Orphanet:68336	"" []	77673	\N	\N	EFO	0	EFO	Rare genetic tumor	Rare genetic tumor
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68336	"" []	221811	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic tumor
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:68336	"" []	221812	\N	\N	EFO	1	EFO	neoplasm	Rare genetic tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68336	"" []	577779	\N	\N	EFO	2	EFO	disease	Rare genetic tumor
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68336	"" []	577780	\N	\N	EFO	2	EFO	disease	Rare genetic tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:68336	"" []	1161198	\N	\N	EFO	3	EFO	disposition	Rare genetic tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:68336	"" []	2044662	\N	\N	EFO	4	EFO	material property	Rare genetic tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:68336	"" []	3194775	\N	\N	EFO	5	EFO	experimental factor	Rare genetic tumor
Orphanet:68346	\N	\N	"" []	Orphanet:68346	"" []	77674	\N	\N	EFO	0	EFO	Rare genetic skin disease	Rare genetic skin disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68346	"" []	221813	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic skin disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:68346	"" []	221814	\N	\N	EFO	1	EFO	skin disease	Rare genetic skin disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68346	"" []	577781	\N	\N	EFO	2	EFO	disease	Rare genetic skin disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68346	"" []	577782	\N	\N	EFO	2	EFO	disease	Rare genetic skin disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:68346	"" []	1161199	\N	\N	EFO	3	EFO	disposition	Rare genetic skin disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:68346	"" []	2044663	\N	\N	EFO	4	EFO	material property	Rare genetic skin disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:68346	"" []	3194776	\N	\N	EFO	5	EFO	experimental factor	Rare genetic skin disease
Orphanet:68356	\N	\N	"" []	Orphanet:68356	"" []	77675	\N	\N	EFO	0	EFO	Leukodystrophy	Leukodystrophy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:68356	"" []	221815	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Leukodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68356	"" []	577783	\N	\N	EFO	2	EFO	genetic disorder	Leukodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68356	"" []	1161200	\N	\N	EFO	3	EFO	disease	Leukodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:68356	"" []	2044664	\N	\N	EFO	4	EFO	disposition	Leukodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:68356	"" []	3194777	\N	\N	EFO	5	EFO	material property	Leukodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:68356	"" []	4400763	\N	\N	EFO	6	EFO	experimental factor	Leukodystrophy
Orphanet:68364	\N	\N	"" []	Orphanet:68364	"" []	77676	\N	\N	EFO	0	EFO	Hemoglobinopathy	Hemoglobinopathy
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:68364	"" []	221816	\N	\N	EFO	1	EFO	Rare constitutional anemia	Hemoglobinopathy
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:68364	"" []	577784	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Hemoglobinopathy
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68364	"" []	1161201	\N	\N	EFO	3	EFO	genetic disorder	Hemoglobinopathy
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:68364	"" []	1161202	\N	\N	EFO	3	EFO	hematological system disease	Hemoglobinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68364	"" []	2044665	\N	\N	EFO	4	EFO	disease	Hemoglobinopathy
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68364	"" []	2044666	\N	\N	EFO	4	EFO	disease	Hemoglobinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:68364	"" []	3194778	\N	\N	EFO	5	EFO	disposition	Hemoglobinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:68364	"" []	4400764	\N	\N	EFO	6	EFO	material property	Hemoglobinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:68364	"" []	5417331	\N	\N	EFO	7	EFO	experimental factor	Hemoglobinopathy
Orphanet:68366	\N	\N	"" []	Orphanet:68366	"" []	77677	\N	\N	EFO	0	EFO	Lysosomal disease	Lysosomal disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:68366	"" []	221817	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Lysosomal disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68366	"" []	577785	\N	\N	EFO	2	EFO	genetic disorder	Lysosomal disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:68366	"" []	577786	\N	\N	EFO	2	EFO	metabolic disease	Lysosomal disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68366	"" []	1161203	\N	\N	EFO	3	EFO	disease	Lysosomal disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68366	"" []	1161204	\N	\N	EFO	3	EFO	disease	Lysosomal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:68366	"" []	2044667	\N	\N	EFO	4	EFO	disposition	Lysosomal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:68366	"" []	3194779	\N	\N	EFO	5	EFO	material property	Lysosomal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:68366	"" []	4400765	\N	\N	EFO	6	EFO	experimental factor	Lysosomal disease
Orphanet:68367	\N	\N	"" []	Orphanet:68367	"" []	77678	\N	\N	EFO	0	EFO	Inborn errors of metabolism	Inborn errors of metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68367	"" []	221818	\N	\N	EFO	1	EFO	genetic disorder	Inborn errors of metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:68367	"" []	221819	\N	\N	EFO	1	EFO	metabolic disease	Inborn errors of metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68367	"" []	577787	\N	\N	EFO	2	EFO	disease	Inborn errors of metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68367	"" []	577788	\N	\N	EFO	2	EFO	disease	Inborn errors of metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:68367	"" []	1161205	\N	\N	EFO	3	EFO	disposition	Inborn errors of metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:68367	"" []	2044668	\N	\N	EFO	4	EFO	material property	Inborn errors of metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:68367	"" []	3194780	\N	\N	EFO	5	EFO	experimental factor	Inborn errors of metabolism
Orphanet:68373	\N	\N	"" []	Orphanet:68373	"" []	77679	\N	\N	EFO	0	EFO	Peroxisomal disease	Peroxisomal disease
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:68373	"" []	221820	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Peroxisomal disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68373	"" []	577789	\N	\N	EFO	2	EFO	genetic disorder	Peroxisomal disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:68373	"" []	577790	\N	\N	EFO	2	EFO	metabolic disease	Peroxisomal disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68373	"" []	1161206	\N	\N	EFO	3	EFO	disease	Peroxisomal disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68373	"" []	1161207	\N	\N	EFO	3	EFO	disease	Peroxisomal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:68373	"" []	2044669	\N	\N	EFO	4	EFO	disposition	Peroxisomal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:68373	"" []	3194781	\N	\N	EFO	5	EFO	material property	Peroxisomal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:68373	"" []	4400766	\N	\N	EFO	6	EFO	experimental factor	Peroxisomal disease
Orphanet:68380	\N	\N	"" []	Orphanet:68380	"" []	77680	\N	\N	EFO	0	EFO	Mitochondrial disease	Mitochondrial disease
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:68380	"" []	221821	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Mitochondrial disease
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:68380	"" []	221822	\N	\N	EFO	1	EFO	Disorder of energy metabolism	Mitochondrial disease
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:68380	"" []	577791	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial disease
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:68380	"" []	577792	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Mitochondrial disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68380	"" []	1161208	\N	\N	EFO	3	EFO	genetic disorder	Mitochondrial disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68380	"" []	1161209	\N	\N	EFO	3	EFO	genetic disorder	Mitochondrial disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:68380	"" []	1161210	\N	\N	EFO	3	EFO	metabolic disease	Mitochondrial disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68380	"" []	2044670	\N	\N	EFO	4	EFO	disease	Mitochondrial disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68380	"" []	2044671	\N	\N	EFO	4	EFO	disease	Mitochondrial disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:68380	"" []	3194782	\N	\N	EFO	5	EFO	disposition	Mitochondrial disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:68380	"" []	4400767	\N	\N	EFO	6	EFO	material property	Mitochondrial disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:68380	"" []	5417332	\N	\N	EFO	7	EFO	experimental factor	Mitochondrial disease
Orphanet:68383	\N	\N	"" []	Orphanet:68383	"" []	77681	\N	\N	EFO	0	EFO	Rare constitutional medullar aplasia	Rare constitutional medullar aplasia
Orphanet:182040	Orphanet:68383	\N	"" []	Orphanet:68383	"" []	221823	\N	\N	EFO	1	EFO	Medullar aplasia	Rare constitutional medullar aplasia
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:68383	"" []	577793	\N	\N	EFO	2	EFO	Rare constitutional anemia	Rare constitutional medullar aplasia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:68383	"" []	1161211	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Rare constitutional medullar aplasia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68383	"" []	2044672	\N	\N	EFO	4	EFO	genetic disorder	Rare constitutional medullar aplasia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:68383	"" []	2044673	\N	\N	EFO	4	EFO	hematological system disease	Rare constitutional medullar aplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68383	"" []	3194783	\N	\N	EFO	5	EFO	disease	Rare constitutional medullar aplasia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68383	"" []	3194784	\N	\N	EFO	5	EFO	disease	Rare constitutional medullar aplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:68383	"" []	4400768	\N	\N	EFO	6	EFO	disposition	Rare constitutional medullar aplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:68383	"" []	5417333	\N	\N	EFO	7	EFO	material property	Rare constitutional medullar aplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:68383	"" []	6152420	\N	\N	EFO	8	EFO	experimental factor	Rare constitutional medullar aplasia
Orphanet:68385	\N	\N	"" []	Orphanet:68385	"" []	77682	\N	\N	EFO	0	EFO	Neurometabolic disease	Neurometabolic disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:68385	"" []	221824	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Neurometabolic disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:68385	"" []	577794	\N	\N	EFO	2	EFO	genetic disorder	Neurometabolic disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:68385	"" []	1161212	\N	\N	EFO	3	EFO	disease	Neurometabolic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:68385	"" []	2044674	\N	\N	EFO	4	EFO	disposition	Neurometabolic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:68385	"" []	3194785	\N	\N	EFO	5	EFO	material property	Neurometabolic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:68385	"" []	4400769	\N	\N	EFO	6	EFO	experimental factor	Neurometabolic disease
Orphanet:684	\N	\N	"" []	Orphanet:684	"" []	77683	\N	\N	EFO	0	EFO	Paramyotonia congenita of Von Eulenburg	Paramyotonia congenita of Von Eulenburg
Orphanet:206970	Orphanet:684	\N	"" []	Orphanet:684	"" []	221825	\N	\N	EFO	1	EFO	Myotonic syndrome	Paramyotonia congenita of Von Eulenburg
Orphanet:352298	Orphanet:684	\N	"" []	Orphanet:684	"" []	221826	\N	\N	EFO	1	EFO	Genetic muscular channelopathy	Paramyotonia congenita of Von Eulenburg
Orphanet:206634	Orphanet:206970	\N	"" []	Orphanet:684	"" []	577795	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Paramyotonia congenita of Von Eulenburg
Orphanet:183497	Orphanet:352298	\N	"" []	Orphanet:684	"" []	577796	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Paramyotonia congenita of Von Eulenburg
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:684	"" []	1161213	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Paramyotonia congenita of Von Eulenburg
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:684	"" []	2044675	\N	\N	EFO	4	EFO	muscular disease	Paramyotonia congenita of Von Eulenburg
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:684	"" []	2044676	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Paramyotonia congenita of Von Eulenburg
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:684	"" []	3000417	\N	\N	EFO	5	EFO	skeletal system disease	Paramyotonia congenita of Von Eulenburg
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:684	"" []	3000418	\N	\N	EFO	5	EFO	genetic disorder	Paramyotonia congenita of Von Eulenburg
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:684	"" []	4134259	\N	\N	EFO	6	EFO	disease	Paramyotonia congenita of Von Eulenburg
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:684	"" []	4134260	\N	\N	EFO	6	EFO	disease	Paramyotonia congenita of Von Eulenburg
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:684	"" []	5183175	\N	\N	EFO	7	EFO	disposition	Paramyotonia congenita of Von Eulenburg
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:684	"" []	5998517	\N	\N	EFO	8	EFO	material property	Paramyotonia congenita of Von Eulenburg
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:684	"" []	6551630	\N	\N	EFO	9	EFO	experimental factor	Paramyotonia congenita of Von Eulenburg
Orphanet:685	\N	\N	"" []	Orphanet:685	"" []	77684	\N	\N	EFO	0	EFO	Hereditary spastic paraplegia	Hereditary spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:685	"" []	221827	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Hereditary spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:685	"" []	577797	\N	\N	EFO	2	EFO	neurodegenerative disease	Hereditary spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:685	"" []	577798	\N	\N	EFO	2	EFO	brain disease	Hereditary spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:685	"" []	577799	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hereditary spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:685	"" []	1161216	\N	\N	EFO	3	EFO	nervous system disease	Hereditary spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:685	"" []	1161217	\N	\N	EFO	3	EFO	nervous system disease	Hereditary spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:685	"" []	1161218	\N	\N	EFO	3	EFO	genetic disorder	Hereditary spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:685	"" []	2044679	\N	\N	EFO	4	EFO	disease	Hereditary spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:685	"" []	2044680	\N	\N	EFO	4	EFO	disease	Hereditary spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:685	"" []	3194788	\N	\N	EFO	5	EFO	disposition	Hereditary spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:685	"" []	4400771	\N	\N	EFO	6	EFO	material property	Hereditary spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:685	"" []	5417335	\N	\N	EFO	7	EFO	experimental factor	Hereditary spastic paraplegia
Orphanet:69028	\N	\N	"" []	Orphanet:69028	"" []	77685	\N	\N	EFO	0	EFO	Syndrome with brachydactyly	Syndrome with brachydactyly
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:69028	"" []	221828	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndrome with brachydactyly
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:69028	"" []	221829	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Syndrome with brachydactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:69028	"" []	577800	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Syndrome with brachydactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:69028	"" []	577801	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Syndrome with brachydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:69028	"" []	1161219	\N	\N	EFO	3	EFO	Rare genetic bone disease	Syndrome with brachydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:69028	"" []	1161220	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Syndrome with brachydactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:69028	"" []	1161221	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndrome with brachydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69028	"" []	2044681	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with brachydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:69028	"" []	2044682	\N	\N	EFO	4	EFO	bone disease	Syndrome with brachydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:69028	"" []	2044683	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Syndrome with brachydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69028	"" []	3194791	\N	\N	EFO	5	EFO	genetic disorder	Syndrome with brachydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69028	"" []	4134261	\N	\N	EFO	6	EFO	disease	Syndrome with brachydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:69028	"" []	3194790	\N	\N	EFO	5	EFO	skeletal system disease	Syndrome with brachydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69028	"" []	5183176	\N	\N	EFO	7	EFO	disposition	Syndrome with brachydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69028	"" []	4400773	\N	\N	EFO	6	EFO	disease	Syndrome with brachydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69028	"" []	5998518	\N	\N	EFO	8	EFO	material property	Syndrome with brachydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69028	"" []	6551631	\N	\N	EFO	9	EFO	experimental factor	Syndrome with brachydactyly
Orphanet:69076	\N	\N	"" []	Orphanet:69076	"" []	77686	\N	\N	EFO	0	EFO	Renal glucosuria	Renal glucosuria
Orphanet:79178	Orphanet:69076	\N	"" []	Orphanet:69076	"" []	221830	\N	\N	EFO	1	EFO	Glucose transport disorder	Renal glucosuria
Orphanet:93593	Orphanet:69076	\N	"" []	Orphanet:69076	"" []	221831	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Renal glucosuria
Orphanet:309001	Orphanet:79178	\N	"" []	Orphanet:69076	"" []	577802	\N	\N	EFO	2	EFO	Disorder of carbohydrate absorption and transport	Renal glucosuria
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:69076	"" []	577803	\N	\N	EFO	2	EFO	Rare genetic renal disease	Renal glucosuria
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:69076	"" []	1161222	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Renal glucosuria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69076	"" []	1161223	\N	\N	EFO	3	EFO	genetic disorder	Renal glucosuria
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:69076	"" []	2044685	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Renal glucosuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69076	"" []	4400774	\N	\N	EFO	6	EFO	disease	Renal glucosuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69076	"" []	3194792	\N	\N	EFO	5	EFO	genetic disorder	Renal glucosuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:69076	"" []	3194793	\N	\N	EFO	5	EFO	metabolic disease	Renal glucosuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69076	"" []	5060198	\N	\N	EFO	7	EFO	disposition	Renal glucosuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69076	"" []	4400775	\N	\N	EFO	6	EFO	disease	Renal glucosuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69076	"" []	5877626	\N	\N	EFO	8	EFO	material property	Renal glucosuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69076	"" []	6470860	\N	\N	EFO	9	EFO	experimental factor	Renal glucosuria
Orphanet:69082	\N	\N	"" []	Orphanet:69082	"" []	77687	\N	\N	EFO	0	EFO	Odonto-tricho-ungual-digito-palmar syndrome	Odonto-tricho-ungual-digito-palmar syndrome
Orphanet:183580	Orphanet:69082	\N	"" []	Orphanet:69082	"" []	221832	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Odonto-tricho-ungual-digito-palmar syndrome
Orphanet:79373	Orphanet:69082	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:69082	"" []	221833	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Odonto-tricho-ungual-digito-palmar syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:69082	"" []	577804	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Odonto-tricho-ungual-digito-palmar syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:69082	"" []	577805	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Odonto-tricho-ungual-digito-palmar syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:69082	"" []	577806	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Odonto-tricho-ungual-digito-palmar syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69082	"" []	2044688	\N	\N	EFO	4	EFO	genetic disorder	Odonto-tricho-ungual-digito-palmar syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:69082	"" []	1161225	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Odonto-tricho-ungual-digito-palmar syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:69082	"" []	1161226	\N	\N	EFO	3	EFO	Rare genetic skin disease	Odonto-tricho-ungual-digito-palmar syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69082	"" []	3000419	\N	\N	EFO	5	EFO	disease	Odonto-tricho-ungual-digito-palmar syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69082	"" []	2044689	\N	\N	EFO	4	EFO	genetic disorder	Odonto-tricho-ungual-digito-palmar syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:69082	"" []	2044690	\N	\N	EFO	4	EFO	skin disease	Odonto-tricho-ungual-digito-palmar syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69082	"" []	4134262	\N	\N	EFO	6	EFO	disposition	Odonto-tricho-ungual-digito-palmar syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69082	"" []	3194796	\N	\N	EFO	5	EFO	disease	Odonto-tricho-ungual-digito-palmar syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69082	"" []	5183177	\N	\N	EFO	7	EFO	material property	Odonto-tricho-ungual-digito-palmar syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69082	"" []	5998519	\N	\N	EFO	8	EFO	experimental factor	Odonto-tricho-ungual-digito-palmar syndrome
Orphanet:69083	\N	\N	"" []	Orphanet:69083	"" []	77688	\N	\N	EFO	0	EFO	Ectodermal dysplasia with natal teeth, Turnpenny type	Ectodermal dysplasia with natal teeth, Turnpenny type
Orphanet:183580	Orphanet:69083	\N	"" []	Orphanet:69083	"" []	221834	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Ectodermal dysplasia with natal teeth, Turnpenny type
Orphanet:79373	Orphanet:69083	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:69083	"" []	221835	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Ectodermal dysplasia with natal teeth, Turnpenny type
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:69083	"" []	577807	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia with natal teeth, Turnpenny type
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:69083	"" []	577808	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ectodermal dysplasia with natal teeth, Turnpenny type
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:69083	"" []	577809	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Ectodermal dysplasia with natal teeth, Turnpenny type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69083	"" []	2044692	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia with natal teeth, Turnpenny type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:69083	"" []	1161228	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia with natal teeth, Turnpenny type
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:69083	"" []	1161229	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ectodermal dysplasia with natal teeth, Turnpenny type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69083	"" []	3000420	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia with natal teeth, Turnpenny type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69083	"" []	2044693	\N	\N	EFO	4	EFO	genetic disorder	Ectodermal dysplasia with natal teeth, Turnpenny type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:69083	"" []	2044694	\N	\N	EFO	4	EFO	skin disease	Ectodermal dysplasia with natal teeth, Turnpenny type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69083	"" []	4134263	\N	\N	EFO	6	EFO	disposition	Ectodermal dysplasia with natal teeth, Turnpenny type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69083	"" []	3194798	\N	\N	EFO	5	EFO	disease	Ectodermal dysplasia with natal teeth, Turnpenny type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69083	"" []	5183178	\N	\N	EFO	7	EFO	material property	Ectodermal dysplasia with natal teeth, Turnpenny type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69083	"" []	5998520	\N	\N	EFO	8	EFO	experimental factor	Ectodermal dysplasia with natal teeth, Turnpenny type
Orphanet:69084	\N	\N	"" []	Orphanet:69084	"" []	77689	\N	\N	EFO	0	EFO	Pure hair and nail ectodermal dysplasia	Pure hair and nail ectodermal dysplasia
Orphanet:79373	Orphanet:69084	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:69084	"" []	221836	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Pure hair and nail ectodermal dysplasia
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:69084	"" []	577810	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Pure hair and nail ectodermal dysplasia
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:69084	"" []	577811	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Pure hair and nail ectodermal dysplasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:69084	"" []	1161230	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pure hair and nail ectodermal dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:69084	"" []	1161231	\N	\N	EFO	3	EFO	Rare genetic skin disease	Pure hair and nail ectodermal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69084	"" []	2044695	\N	\N	EFO	4	EFO	genetic disorder	Pure hair and nail ectodermal dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69084	"" []	2044696	\N	\N	EFO	4	EFO	genetic disorder	Pure hair and nail ectodermal dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:69084	"" []	2044697	\N	\N	EFO	4	EFO	skin disease	Pure hair and nail ectodermal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69084	"" []	3194799	\N	\N	EFO	5	EFO	disease	Pure hair and nail ectodermal dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69084	"" []	3194800	\N	\N	EFO	5	EFO	disease	Pure hair and nail ectodermal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69084	"" []	4400779	\N	\N	EFO	6	EFO	disposition	Pure hair and nail ectodermal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69084	"" []	5417340	\N	\N	EFO	7	EFO	material property	Pure hair and nail ectodermal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69084	"" []	6152423	\N	\N	EFO	8	EFO	experimental factor	Pure hair and nail ectodermal dysplasia
Orphanet:69085	\N	\N	"" []	Orphanet:69085	"" []	77690	\N	\N	EFO	0	EFO	Limb-mammary syndrome	Limb-mammary syndrome
Orphanet:404574	Orphanet:69085	\N	"" []	Orphanet:69085	"" []	221837	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Limb-mammary syndrome
Orphanet:98609	Orphanet:69085	\N	"" []	Orphanet:69085	"" []	221838	\N	\N	EFO	1	EFO	EEC syndrome and related syndrome	Limb-mammary syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:69085	"" []	577812	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Limb-mammary syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:69085	"" []	577813	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Limb-mammary syndrome
Orphanet:79373	Orphanet:98609	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:69085	"" []	577814	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Limb-mammary syndrome
Orphanet:98608	Orphanet:98609	\N	"" []	Orphanet:69085	"" []	577815	\N	\N	EFO	2	EFO	Anomaly of the secretory and excretory apparatus of the lacrimal system	Limb-mammary syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:69085	"" []	1161232	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Limb-mammary syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:69085	"" []	1161233	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Limb-mammary syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:69085	"" []	1161234	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Limb-mammary syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:69085	"" []	1161235	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Limb-mammary syndrome
Orphanet:98602	Orphanet:98608	\N	"" []	Orphanet:69085	"" []	1161236	\N	\N	EFO	3	EFO	Rare lacrimal system disease	Limb-mammary syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:69085	"" []	2044698	\N	\N	EFO	4	EFO	Rare genetic bone disease	Limb-mammary syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:69085	"" []	2044699	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Limb-mammary syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:69085	"" []	2044700	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Limb-mammary syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:69085	"" []	2044701	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Limb-mammary syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:69085	"" []	2044702	\N	\N	EFO	4	EFO	Rare genetic skin disease	Limb-mammary syndrome
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:69085	"" []	2044703	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Limb-mammary syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69085	"" []	3194801	\N	\N	EFO	5	EFO	genetic disorder	Limb-mammary syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:69085	"" []	3194802	\N	\N	EFO	5	EFO	bone disease	Limb-mammary syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:69085	"" []	3194803	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Limb-mammary syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69085	"" []	4400782	\N	\N	EFO	6	EFO	genetic disorder	Limb-mammary syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69085	"" []	3194805	\N	\N	EFO	5	EFO	genetic disorder	Limb-mammary syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:69085	"" []	3194806	\N	\N	EFO	5	EFO	skin disease	Limb-mammary syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:69085	"" []	3194807	\N	\N	EFO	5	EFO	Rare genetic eye disease	Limb-mammary syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69085	"" []	5183179	\N	\N	EFO	7	EFO	disease	Limb-mammary syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:69085	"" []	4400781	\N	\N	EFO	6	EFO	skeletal system disease	Limb-mammary syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69085	"" []	4400783	\N	\N	EFO	6	EFO	disease	Limb-mammary syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69085	"" []	4400784	\N	\N	EFO	6	EFO	genetic disorder	Limb-mammary syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:69085	"" []	4400785	\N	\N	EFO	6	EFO	eye disease	Limb-mammary syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69085	"" []	5998521	\N	\N	EFO	8	EFO	disposition	Limb-mammary syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69085	"" []	5417342	\N	\N	EFO	7	EFO	disease	Limb-mammary syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69085	"" []	5417343	\N	\N	EFO	7	EFO	disease	Limb-mammary syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69085	"" []	6551632	\N	\N	EFO	9	EFO	material property	Limb-mammary syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69085	"" []	6889502	\N	\N	EFO	10	EFO	experimental factor	Limb-mammary syndrome
Orphanet:69087	\N	\N	"" []	Orphanet:69087	"" []	77691	\N	\N	EFO	0	EFO	Naegeli-Franceschetti-Jadassohn syndrome	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:183466	Orphanet:69087	\N	"" []	Orphanet:69087	"" []	221839	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:79373	Orphanet:69087	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:69087	"" []	221840	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:98352	Orphanet:69087	\N	"" []	Orphanet:69087	"" []	221841	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:69087	"" []	577816	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:69087	"" []	577817	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:69087	"" []	577818	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:69087	"" []	577819	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:69087	"" []	1161237	\N	\N	EFO	3	EFO	Rare genetic skin disease	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:69087	"" []	1161238	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:69087	"" []	1161239	\N	\N	EFO	3	EFO	Rare genetic skin disease	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:69087	"" []	1161240	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Naegeli-Franceschetti-Jadassohn syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69087	"" []	5417345	\N	\N	EFO	7	EFO	genetic disorder	Naegeli-Franceschetti-Jadassohn syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:69087	"" []	5417346	\N	\N	EFO	7	EFO	skin disease	Naegeli-Franceschetti-Jadassohn syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69087	"" []	2044706	\N	\N	EFO	4	EFO	genetic disorder	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:69087	"" []	2044707	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Naegeli-Franceschetti-Jadassohn syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69087	"" []	5817824	\N	\N	EFO	8	EFO	disease	Naegeli-Franceschetti-Jadassohn syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69087	"" []	5817825	\N	\N	EFO	8	EFO	disease	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:69087	"" []	3194810	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Naegeli-Franceschetti-Jadassohn syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69087	"" []	6410302	\N	\N	EFO	9	EFO	disposition	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:69087	"" []	4400787	\N	\N	EFO	6	EFO	Rare genetic skin disease	Naegeli-Franceschetti-Jadassohn syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69087	"" []	6808126	\N	\N	EFO	10	EFO	material property	Naegeli-Franceschetti-Jadassohn syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69087	"" []	7048782	\N	\N	EFO	11	EFO	experimental factor	Naegeli-Franceschetti-Jadassohn syndrome
Orphanet:69088	\N	\N	"" []	Orphanet:69088	"" []	77692	\N	\N	EFO	0	EFO	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:2781	Orphanet:69088	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:69088	"" []	221842	\N	\N	EFO	1	EFO	Osteopetrosis	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:331193	Orphanet:69088	\N	"" []	Orphanet:69088	"" []	221843	\N	\N	EFO	1	EFO	Other immunodeficiency syndromes due to defects in innate immunity	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:79373	Orphanet:69088	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:69088	"" []	221844	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:89832	Orphanet:69088	\N	"" []	Orphanet:69088	"" []	221845	\N	\N	EFO	1	EFO	Syndromic lymphedema	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:69088	"" []	577820	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:101988	Orphanet:331193	\N	"" []	Orphanet:69088	"" []	577821	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:69088	"" []	577822	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:69088	"" []	577823	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:69088	"" []	577824	\N	\N	EFO	2	EFO	Lymphedema	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:69088	"" []	1161241	\N	\N	EFO	3	EFO	Primary bone dysplasia	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:69088	"" []	1161242	\N	\N	EFO	3	EFO	Primary immunodeficiency	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:69088	"" []	1161243	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:69088	"" []	1161244	\N	\N	EFO	3	EFO	Rare genetic skin disease	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:69088	"" []	1161245	\N	\N	EFO	3	EFO	Rare genetic skin disease	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:69088	"" []	2044708	\N	\N	EFO	4	EFO	Rare genetic bone disease	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:69088	"" []	2044709	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:69088	"" []	2044710	\N	\N	EFO	4	EFO	Rare genetic immune disease	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69088	"" []	4400790	\N	\N	EFO	6	EFO	genetic disorder	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69088	"" []	2044712	\N	\N	EFO	4	EFO	genetic disorder	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:69088	"" []	2044713	\N	\N	EFO	4	EFO	skin disease	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69088	"" []	3194811	\N	\N	EFO	5	EFO	genetic disorder	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:69088	"" []	3194812	\N	\N	EFO	5	EFO	bone disease	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:69088	"" []	3194813	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69088	"" []	3194814	\N	\N	EFO	5	EFO	genetic disorder	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:69088	"" []	3194815	\N	\N	EFO	5	EFO	immune system disease	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69088	"" []	5060199	\N	\N	EFO	7	EFO	disease	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69088	"" []	3194817	\N	\N	EFO	5	EFO	disease	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:69088	"" []	4400789	\N	\N	EFO	6	EFO	skeletal system disease	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69088	"" []	4400791	\N	\N	EFO	6	EFO	disease	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69088	"" []	5877627	\N	\N	EFO	8	EFO	disposition	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69088	"" []	5417347	\N	\N	EFO	7	EFO	disease	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69088	"" []	6470861	\N	\N	EFO	9	EFO	material property	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69088	"" []	6848746	\N	\N	EFO	10	EFO	experimental factor	Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Orphanet:69125	\N	\N	"" []	Orphanet:69125	"" []	77693	\N	\N	EFO	0	EFO	Anonychia with flexural pigmentation	Anonychia with flexural pigmentation
Orphanet:79370	Orphanet:69125	\N	"" []	Orphanet:69125	"" []	221846	\N	\N	EFO	1	EFO	Syndromic nail anomaly	Anonychia with flexural pigmentation
Orphanet:79373	Orphanet:69125	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:69125	"" []	221847	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Anonychia with flexural pigmentation
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:69125	"" []	577825	\N	\N	EFO	2	EFO	Genetic nail anomaly	Anonychia with flexural pigmentation
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:69125	"" []	577826	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Anonychia with flexural pigmentation
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:69125	"" []	577827	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Anonychia with flexural pigmentation
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:69125	"" []	1161246	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Anonychia with flexural pigmentation
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:69125	"" []	1161247	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Anonychia with flexural pigmentation
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:69125	"" []	2044714	\N	\N	EFO	4	EFO	Rare genetic skin disease	Anonychia with flexural pigmentation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69125	"" []	2044715	\N	\N	EFO	4	EFO	genetic disorder	Anonychia with flexural pigmentation
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69125	"" []	3000421	\N	\N	EFO	5	EFO	genetic disorder	Anonychia with flexural pigmentation
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:69125	"" []	3000422	\N	\N	EFO	5	EFO	skin disease	Anonychia with flexural pigmentation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69125	"" []	4134264	\N	\N	EFO	6	EFO	disease	Anonychia with flexural pigmentation
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69125	"" []	4134265	\N	\N	EFO	6	EFO	disease	Anonychia with flexural pigmentation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69125	"" []	5183181	\N	\N	EFO	7	EFO	disposition	Anonychia with flexural pigmentation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69125	"" []	5998523	\N	\N	EFO	8	EFO	material property	Anonychia with flexural pigmentation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69125	"" []	6551634	\N	\N	EFO	9	EFO	experimental factor	Anonychia with flexural pigmentation
Orphanet:69126	\N	\N	"" []	Orphanet:69126	"" []	77694	\N	\N	EFO	0	EFO	Pyogenic arthritis - pyoderma gangrenosum - acne	Pyogenic arthritis - pyoderma gangrenosum - acne
Orphanet:290839	Orphanet:69126	\N	"" []	Orphanet:69126	"" []	221848	\N	\N	EFO	1	EFO	Autoinflammatory syndrome with immune deficiency	Pyogenic arthritis - pyoderma gangrenosum - acne
Orphanet:79385	Orphanet:69126	\N	"" []	Orphanet:69126	"" []	221849	\N	\N	EFO	1	EFO	Unclassified genetic skin disorder	Pyogenic arthritis - pyoderma gangrenosum - acne
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:69126	"" []	577828	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Pyogenic arthritis - pyoderma gangrenosum - acne
Orphanet:68346	Orphanet:79385	\N	"" []	Orphanet:69126	"" []	577829	\N	\N	EFO	2	EFO	Rare genetic skin disease	Pyogenic arthritis - pyoderma gangrenosum - acne
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:69126	"" []	1161249	\N	\N	EFO	3	EFO	Primary immunodeficiency	Pyogenic arthritis - pyoderma gangrenosum - acne
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69126	"" []	1161250	\N	\N	EFO	3	EFO	genetic disorder	Pyogenic arthritis - pyoderma gangrenosum - acne
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:69126	"" []	1161251	\N	\N	EFO	3	EFO	skin disease	Pyogenic arthritis - pyoderma gangrenosum - acne
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:69126	"" []	2044718	\N	\N	EFO	4	EFO	Rare genetic immune disease	Pyogenic arthritis - pyoderma gangrenosum - acne
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69126	"" []	4400794	\N	\N	EFO	6	EFO	disease	Pyogenic arthritis - pyoderma gangrenosum - acne
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69126	"" []	2044720	\N	\N	EFO	4	EFO	disease	Pyogenic arthritis - pyoderma gangrenosum - acne
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69126	"" []	3194820	\N	\N	EFO	5	EFO	genetic disorder	Pyogenic arthritis - pyoderma gangrenosum - acne
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:69126	"" []	3194821	\N	\N	EFO	5	EFO	immune system disease	Pyogenic arthritis - pyoderma gangrenosum - acne
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69126	"" []	5060200	\N	\N	EFO	7	EFO	disposition	Pyogenic arthritis - pyoderma gangrenosum - acne
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69126	"" []	4400795	\N	\N	EFO	6	EFO	disease	Pyogenic arthritis - pyoderma gangrenosum - acne
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69126	"" []	5877628	\N	\N	EFO	8	EFO	material property	Pyogenic arthritis - pyoderma gangrenosum - acne
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69126	"" []	6470862	\N	\N	EFO	9	EFO	experimental factor	Pyogenic arthritis - pyoderma gangrenosum - acne
Orphanet:69663	\N	\N	"" []	Orphanet:69663	"" []	77695	\N	\N	EFO	0	EFO	Low phospholipid associated cholelithiasis	Low phospholipid associated cholelithiasis
Orphanet:156607	Orphanet:69663	\N	"" []	Orphanet:69663	"" []	221850	\N	\N	EFO	1	EFO	Genetic biliary tract disease	Low phospholipid associated cholelithiasis
Orphanet:156601	Orphanet:156607	\N	"" []	Orphanet:69663	"" []	577830	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Low phospholipid associated cholelithiasis
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:69663	"" []	1161252	\N	\N	EFO	3	EFO	digestive system disease	Low phospholipid associated cholelithiasis
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69663	"" []	1161253	\N	\N	EFO	3	EFO	genetic disorder	Low phospholipid associated cholelithiasis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69663	"" []	2044721	\N	\N	EFO	4	EFO	disease	Low phospholipid associated cholelithiasis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69663	"" []	2044722	\N	\N	EFO	4	EFO	disease	Low phospholipid associated cholelithiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69663	"" []	3194823	\N	\N	EFO	5	EFO	disposition	Low phospholipid associated cholelithiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69663	"" []	4400797	\N	\N	EFO	6	EFO	material property	Low phospholipid associated cholelithiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69663	"" []	5417351	\N	\N	EFO	7	EFO	experimental factor	Low phospholipid associated cholelithiasis
Orphanet:69723	\N	\N	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	Orphanet:69723	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	77696	\N	\N	EFO	0	EFO	Tyrosinemia type 3	Tyrosinemia type 3
Orphanet:284818	Orphanet:69723	\N	"" []	Orphanet:69723	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	221851	\N	\N	EFO	1	EFO	Disorder of tyrosine metabolism	Tyrosinemia type 3
Orphanet:79190	Orphanet:284818	\N	"" []	Orphanet:69723	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	577831	\N	\N	EFO	2	EFO	Disorder of phenylalanin or tyrosine metabolism	Tyrosinemia type 3
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:69723	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	1161254	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Tyrosinemia type 3
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:69723	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	2044723	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Tyrosinemia type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69723	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	3194824	\N	\N	EFO	5	EFO	genetic disorder	Tyrosinemia type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:69723	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	3194825	\N	\N	EFO	5	EFO	metabolic disease	Tyrosinemia type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69723	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	4400798	\N	\N	EFO	6	EFO	disease	Tyrosinemia type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69723	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	4400799	\N	\N	EFO	6	EFO	disease	Tyrosinemia type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69723	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	5417352	\N	\N	EFO	7	EFO	disposition	Tyrosinemia type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69723	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	6152428	\N	\N	EFO	8	EFO	material property	Tyrosinemia type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69723	"Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." []	6634056	\N	\N	EFO	9	EFO	experimental factor	Tyrosinemia type 3
Orphanet:69735	\N	\N	"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []	Orphanet:69735	"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []	77697	\N	\N	EFO	0	EFO	Hypotrichosis - lymphedema - telangiectasia	Hypotrichosis - lymphedema - telangiectasia
Orphanet:89832	Orphanet:69735	\N	"" []	Orphanet:69735	"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []	221852	\N	\N	EFO	1	EFO	Syndromic lymphedema	Hypotrichosis - lymphedema - telangiectasia
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:69735	"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []	577832	\N	\N	EFO	2	EFO	Lymphedema	Hypotrichosis - lymphedema - telangiectasia
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:69735	"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []	1161255	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hypotrichosis - lymphedema - telangiectasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69735	"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []	2044724	\N	\N	EFO	4	EFO	genetic disorder	Hypotrichosis - lymphedema - telangiectasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:69735	"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []	2044725	\N	\N	EFO	4	EFO	skin disease	Hypotrichosis - lymphedema - telangiectasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69735	"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []	3194826	\N	\N	EFO	5	EFO	disease	Hypotrichosis - lymphedema - telangiectasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69735	"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []	3194827	\N	\N	EFO	5	EFO	disease	Hypotrichosis - lymphedema - telangiectasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69735	"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []	4400800	\N	\N	EFO	6	EFO	disposition	Hypotrichosis - lymphedema - telangiectasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69735	"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []	5417353	\N	\N	EFO	7	EFO	material property	Hypotrichosis - lymphedema - telangiectasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69735	"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []	6152429	\N	\N	EFO	8	EFO	experimental factor	Hypotrichosis - lymphedema - telangiectasia
Orphanet:69737	\N	\N	"" []	Orphanet:69737	"" []	77698	\N	\N	EFO	0	EFO	Bosley-Salih-Alorainy syndrome	Bosley-Salih-Alorainy syndrome
Orphanet:156532	Orphanet:69737	\N	"" []	Orphanet:69737	"" []	221853	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Bosley-Salih-Alorainy syndrome
Orphanet:330197	Orphanet:69737	\N	"" []	Orphanet:69737	"" []	221854	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Bosley-Salih-Alorainy syndrome
Orphanet:90642	Orphanet:69737	\N	"" []	Orphanet:69737	"" []	221855	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Bosley-Salih-Alorainy syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:69737	"" []	577833	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Bosley-Salih-Alorainy syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:69737	"" []	577834	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Bosley-Salih-Alorainy syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:69737	"" []	577835	\N	\N	EFO	2	EFO	Rare genetic deafness	Bosley-Salih-Alorainy syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69737	"" []	1161256	\N	\N	EFO	3	EFO	genetic disorder	Bosley-Salih-Alorainy syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:69737	"" []	1161257	\N	\N	EFO	3	EFO	heart disease	Bosley-Salih-Alorainy syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:69737	"" []	1161258	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bosley-Salih-Alorainy syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69737	"" []	1161259	\N	\N	EFO	3	EFO	genetic disorder	Bosley-Salih-Alorainy syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:69737	"" []	1161260	\N	\N	EFO	3	EFO	auditory system disease	Bosley-Salih-Alorainy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69737	"" []	3194830	\N	\N	EFO	5	EFO	disease	Bosley-Salih-Alorainy syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:69737	"" []	2044727	\N	\N	EFO	4	EFO	cardiovascular disease	Bosley-Salih-Alorainy syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69737	"" []	2044728	\N	\N	EFO	4	EFO	genetic disorder	Bosley-Salih-Alorainy syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:69737	"" []	2044729	\N	\N	EFO	4	EFO	sensory system disease	Bosley-Salih-Alorainy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69737	"" []	5417355	\N	\N	EFO	7	EFO	disposition	Bosley-Salih-Alorainy syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69737	"" []	3194829	\N	\N	EFO	5	EFO	disease	Bosley-Salih-Alorainy syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:69737	"" []	3194831	\N	\N	EFO	5	EFO	nervous system disease	Bosley-Salih-Alorainy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69737	"" []	5877629	\N	\N	EFO	8	EFO	material property	Bosley-Salih-Alorainy syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69737	"" []	4400802	\N	\N	EFO	6	EFO	disease	Bosley-Salih-Alorainy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69737	"" []	6470863	\N	\N	EFO	9	EFO	experimental factor	Bosley-Salih-Alorainy syndrome
Orphanet:69739	\N	\N	"" []	Orphanet:69739	"" []	77699	\N	\N	EFO	0	EFO	Athabaskan brainstem dysgenesis syndrome	Athabaskan brainstem dysgenesis syndrome
Orphanet:71859	Orphanet:69739	\N	"" []	Orphanet:69739	"" []	221856	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Athabaskan brainstem dysgenesis syndrome
Orphanet:90642	Orphanet:69739	\N	"" []	Orphanet:69739	"" []	221857	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Athabaskan brainstem dysgenesis syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69739	"" []	577836	\N	\N	EFO	2	EFO	genetic disorder	Athabaskan brainstem dysgenesis syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:69739	"" []	577837	\N	\N	EFO	2	EFO	Rare genetic deafness	Athabaskan brainstem dysgenesis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69739	"" []	2044731	\N	\N	EFO	4	EFO	disease	Athabaskan brainstem dysgenesis syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:69739	"" []	1161262	\N	\N	EFO	3	EFO	genetic disorder	Athabaskan brainstem dysgenesis syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:69739	"" []	1161263	\N	\N	EFO	3	EFO	auditory system disease	Athabaskan brainstem dysgenesis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:69739	"" []	5417356	\N	\N	EFO	7	EFO	disposition	Athabaskan brainstem dysgenesis syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:69739	"" []	2044732	\N	\N	EFO	4	EFO	sensory system disease	Athabaskan brainstem dysgenesis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:69739	"" []	5817826	\N	\N	EFO	8	EFO	material property	Athabaskan brainstem dysgenesis syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:69739	"" []	3194833	\N	\N	EFO	5	EFO	nervous system disease	Athabaskan brainstem dysgenesis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:69739	"" []	6410303	\N	\N	EFO	9	EFO	experimental factor	Athabaskan brainstem dysgenesis syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:69739	"" []	4400804	\N	\N	EFO	6	EFO	disease	Athabaskan brainstem dysgenesis syndrome
Orphanet:699	\N	\N	"" []	Orphanet:699	"" []	77700	\N	\N	EFO	0	EFO	Pearson syndrome	Pearson syndrome
Orphanet:104013	Orphanet:699	\N	"" []	Orphanet:699	"" []	221858	\N	\N	EFO	1	EFO	Metabolic disease with intestinal involvement	Pearson syndrome
Orphanet:181402	Orphanet:699	\N	"" []	Orphanet:699	"" []	221859	\N	\N	EFO	1	EFO	Syndrome with hypoparathyroidism	Pearson syndrome
Orphanet:254767	Orphanet:699	\N	"" []	Orphanet:699	"" []	221860	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA	Pearson syndrome
Orphanet:331184	Orphanet:699	\N	"" []	Orphanet:699	"" []	221861	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Pearson syndrome
Orphanet:98362	Orphanet:699	\N	"" []	Orphanet:699	"" []	221862	\N	\N	EFO	1	EFO	Constitutional sideroblastic anemia	Pearson syndrome
Orphanet:98695	Orphanet:699	\N	"" []	Orphanet:699	"" []	221863	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	Pearson syndrome
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:699	"" []	577838	\N	\N	EFO	2	EFO	Genetic intestinal disease	Pearson syndrome
Orphanet:208593	Orphanet:181402	\N	"" []	Orphanet:699	"" []	577839	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Pearson syndrome
Orphanet:254758	Orphanet:254767	\N	"" []	Orphanet:699	"" []	577840	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Pearson syndrome
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:699	"" []	577841	\N	\N	EFO	2	EFO	Constitutional neutropenia	Pearson syndrome
Orphanet:183651	Orphanet:98362	\N	"" []	Orphanet:699	"" []	577842	\N	\N	EFO	2	EFO	Rare constitutional anemia	Pearson syndrome
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:699	"" []	577843	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Pearson syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:699	"" []	1161264	\N	\N	EFO	3	EFO	digestive system disease	Pearson syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:699	"" []	1161265	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Pearson syndrome
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:699	"" []	1161266	\N	\N	EFO	3	EFO	parathyroid disease	Pearson syndrome
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:699	"" []	1161267	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Pearson syndrome
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:699	"" []	1161268	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Pearson syndrome
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:699	"" []	1161269	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Pearson syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:699	"" []	1161270	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Pearson syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:699	"" []	1161271	\N	\N	EFO	3	EFO	Rare genetic eye disease	Pearson syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:699	"" []	2044733	\N	\N	EFO	4	EFO	disease	Pearson syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:699	"" []	2044734	\N	\N	EFO	4	EFO	genetic disorder	Pearson syndrome
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:699	"" []	2044735	\N	\N	EFO	4	EFO	calcium metabolic disease	Pearson syndrome
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:699	"" []	2044736	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Pearson syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:699	"" []	2044737	\N	\N	EFO	4	EFO	Mitochondrial disease	Pearson syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:699	"" []	2044738	\N	\N	EFO	4	EFO	Primary immunodeficiency	Pearson syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:699	"" []	2044739	\N	\N	EFO	4	EFO	genetic disorder	Pearson syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:699	"" []	2044740	\N	\N	EFO	4	EFO	hematological system disease	Pearson syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:699	"" []	2044741	\N	\N	EFO	4	EFO	genetic disorder	Pearson syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:699	"" []	2044742	\N	\N	EFO	4	EFO	eye disease	Pearson syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:699	"" []	6410305	\N	\N	EFO	9	EFO	disposition	Pearson syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:699	"" []	6152430	\N	\N	EFO	8	EFO	disease	Pearson syndrome
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:699	"" []	3194836	\N	\N	EFO	5	EFO	metabolic disease	Pearson syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:699	"" []	3194837	\N	\N	EFO	5	EFO	genetic disorder	Pearson syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:699	"" []	3194838	\N	\N	EFO	5	EFO	endocrine system disease	Pearson syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:699	"" []	3194839	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Pearson syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:699	"" []	3194840	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Pearson syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:699	"" []	3194841	\N	\N	EFO	5	EFO	Rare genetic immune disease	Pearson syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:699	"" []	3194842	\N	\N	EFO	5	EFO	disease	Pearson syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:699	"" []	3194843	\N	\N	EFO	5	EFO	disease	Pearson syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:699	"" []	6778807	\N	\N	EFO	10	EFO	material property	Pearson syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:699	"" []	6152431	\N	\N	EFO	8	EFO	disease	Pearson syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:699	"" []	4400809	\N	\N	EFO	6	EFO	disease	Pearson syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:699	"" []	4400810	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Pearson syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:699	"" []	4400811	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Pearson syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:699	"" []	4400812	\N	\N	EFO	6	EFO	genetic disorder	Pearson syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:699	"" []	4400813	\N	\N	EFO	6	EFO	immune system disease	Pearson syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:699	"" []	7029999	\N	\N	EFO	11	EFO	experimental factor	Pearson syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:699	"" []	5417358	\N	\N	EFO	7	EFO	genetic disorder	Pearson syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:699	"" []	5417359	\N	\N	EFO	7	EFO	genetic disorder	Pearson syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:699	"" []	5417360	\N	\N	EFO	7	EFO	metabolic disease	Pearson syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:699	"" []	5417362	\N	\N	EFO	7	EFO	disease	Pearson syndrome
Orphanet:7	\N	\N	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	77701	\N	\N	EFO	0	EFO	3C syndrome	3C syndrome
Orphanet:102283	Orphanet:7	\N	"" []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	221864	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	3C syndrome
Orphanet:183763	Orphanet:7	\N	"" []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	221865	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	3C syndrome
Orphanet:269570	Orphanet:7	\N	"" []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	221866	\N	\N	EFO	1	EFO	Genetic syndrome with a Dandy-Walker malformation as major feature	3C syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	577844	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	3C syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	577845	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	3C syndrome
Orphanet:269567	Orphanet:269570	\N	"" []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	577846	\N	\N	EFO	2	EFO	Genetic syndrome with a cerebellar malformation as major feature	3C syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	1161272	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	3C syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	1161273	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	3C syndrome
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	1161274	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	3C syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	4400815	\N	\N	EFO	6	EFO	genetic disorder	3C syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	4400816	\N	\N	EFO	6	EFO	genetic disorder	3C syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	2044745	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	3C syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	5060201	\N	\N	EFO	7	EFO	disease	3C syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	3194845	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	3C syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	3194846	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	3C syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	5877632	\N	\N	EFO	8	EFO	disposition	3C syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	6470865	\N	\N	EFO	9	EFO	material property	3C syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:7	"3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome." []	6848747	\N	\N	EFO	10	EFO	experimental factor	3C syndrome
Orphanet:70	\N	\N	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	77702	\N	\N	EFO	0	EFO	Proximal spinal muscular atrophy	Proximal spinal muscular atrophy
Orphanet:98497	Orphanet:70	\N	"" []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	221867	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Proximal spinal muscular atrophy
Orphanet:98505	Orphanet:70	\N	"" []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	221868	\N	\N	EFO	1	EFO	Genetic motor neuron disease	Proximal spinal muscular atrophy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	577847	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Proximal spinal muscular atrophy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	577848	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Proximal spinal muscular atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	2044748	\N	\N	EFO	4	EFO	genetic disorder	Proximal spinal muscular atrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	1161276	\N	\N	EFO	3	EFO	muscular disease	Proximal spinal muscular atrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	1161277	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Proximal spinal muscular atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	3000424	\N	\N	EFO	5	EFO	disease	Proximal spinal muscular atrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	2044747	\N	\N	EFO	4	EFO	skeletal system disease	Proximal spinal muscular atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	4134268	\N	\N	EFO	6	EFO	disposition	Proximal spinal muscular atrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	3194848	\N	\N	EFO	5	EFO	disease	Proximal spinal muscular atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	5183186	\N	\N	EFO	7	EFO	material property	Proximal spinal muscular atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:70	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	5998526	\N	\N	EFO	8	EFO	experimental factor	Proximal spinal muscular atrophy
Orphanet:700	\N	\N	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	Orphanet:700	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	77703	\N	\N	EFO	0	EFO	Alopecia totalis	Alopecia totalis
Orphanet:79364	Orphanet:700	\N	"" []	Orphanet:700	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	221869	\N	\N	EFO	1	EFO	Alopecia	Alopecia totalis
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:700	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	577849	\N	\N	EFO	2	EFO	Genetic hair anomaly	Alopecia totalis
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:700	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	1161278	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Alopecia totalis
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:700	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	2044749	\N	\N	EFO	4	EFO	Rare genetic skin disease	Alopecia totalis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:700	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	3194849	\N	\N	EFO	5	EFO	genetic disorder	Alopecia totalis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:700	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	3194850	\N	\N	EFO	5	EFO	skin disease	Alopecia totalis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:700	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	4400818	\N	\N	EFO	6	EFO	disease	Alopecia totalis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:700	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	4400819	\N	\N	EFO	6	EFO	disease	Alopecia totalis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:700	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	5417365	\N	\N	EFO	7	EFO	disposition	Alopecia totalis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:700	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	6152433	\N	\N	EFO	8	EFO	material property	Alopecia totalis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:700	"Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." []	6634057	\N	\N	EFO	9	EFO	experimental factor	Alopecia totalis
Orphanet:701	\N	\N	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	Orphanet:701	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	77704	\N	\N	EFO	0	EFO	Alopecia universalis	Alopecia universalis
Orphanet:79364	Orphanet:701	\N	"" []	Orphanet:701	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	221870	\N	\N	EFO	1	EFO	Alopecia	Alopecia universalis
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:701	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	577850	\N	\N	EFO	2	EFO	Genetic hair anomaly	Alopecia universalis
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:701	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	1161279	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Alopecia universalis
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:701	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	2044750	\N	\N	EFO	4	EFO	Rare genetic skin disease	Alopecia universalis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:701	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	3194851	\N	\N	EFO	5	EFO	genetic disorder	Alopecia universalis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:701	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	3194852	\N	\N	EFO	5	EFO	skin disease	Alopecia universalis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:701	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	4400820	\N	\N	EFO	6	EFO	disease	Alopecia universalis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:701	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	4400821	\N	\N	EFO	6	EFO	disease	Alopecia universalis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:701	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	5417366	\N	\N	EFO	7	EFO	disposition	Alopecia universalis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:701	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	6152434	\N	\N	EFO	8	EFO	material property	Alopecia universalis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:701	"Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." []	6634058	\N	\N	EFO	9	EFO	experimental factor	Alopecia universalis
Orphanet:702	\N	\N	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	77705	\N	\N	EFO	0	EFO	Pelizaeus-Merzbacher disease	Pelizaeus-Merzbacher disease
Orphanet:183500	Orphanet:702	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	221871	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Pelizaeus-Merzbacher disease
Orphanet:68356	Orphanet:702	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	221872	\N	\N	EFO	1	EFO	Leukodystrophy	Pelizaeus-Merzbacher disease
Orphanet:98464	Orphanet:702	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	221873	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Pelizaeus-Merzbacher disease
Orphanet:98678	Orphanet:702	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	221874	\N	\N	EFO	1	EFO	X-linked recessive optic atrophy	Pelizaeus-Merzbacher disease
Orphanet:98691	Orphanet:702	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	221875	\N	\N	EFO	1	EFO	Abnormal eye movements	Pelizaeus-Merzbacher disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	577851	\N	\N	EFO	2	EFO	neurodegenerative disease	Pelizaeus-Merzbacher disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	577852	\N	\N	EFO	2	EFO	brain disease	Pelizaeus-Merzbacher disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	577853	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	577854	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	577855	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Pelizaeus-Merzbacher disease
Orphanet:103	Orphanet:98678	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	577856	\N	\N	EFO	2	EFO	Genetic optic atrophy	Pelizaeus-Merzbacher disease
Orphanet:183616	Orphanet:98691	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	577857	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Pelizaeus-Merzbacher disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	1161280	\N	\N	EFO	3	EFO	nervous system disease	Pelizaeus-Merzbacher disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	1161281	\N	\N	EFO	3	EFO	nervous system disease	Pelizaeus-Merzbacher disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	3194854	\N	\N	EFO	5	EFO	genetic disorder	Pelizaeus-Merzbacher disease
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	1161283	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Pelizaeus-Merzbacher disease
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	1161284	\N	\N	EFO	3	EFO	Optic neuropathy	Pelizaeus-Merzbacher disease
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	1161285	\N	\N	EFO	3	EFO	Rare genetic eye disease	Pelizaeus-Merzbacher disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	2044751	\N	\N	EFO	4	EFO	disease	Pelizaeus-Merzbacher disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	4066978	\N	\N	EFO	6	EFO	disease	Pelizaeus-Merzbacher disease
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	2044753	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Pelizaeus-Merzbacher disease
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	2044754	\N	\N	EFO	4	EFO	Rare genetic eye disease	Pelizaeus-Merzbacher disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	3194855	\N	\N	EFO	5	EFO	genetic disorder	Pelizaeus-Merzbacher disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	3194856	\N	\N	EFO	5	EFO	eye disease	Pelizaeus-Merzbacher disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	5060202	\N	\N	EFO	7	EFO	disposition	Pelizaeus-Merzbacher disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	4134270	\N	\N	EFO	6	EFO	disease	Pelizaeus-Merzbacher disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	5877633	\N	\N	EFO	8	EFO	material property	Pelizaeus-Merzbacher disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:702	"Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." []	6470866	\N	\N	EFO	9	EFO	experimental factor	Pelizaeus-Merzbacher disease
Orphanet:70470	\N	\N	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	77706	\N	\N	EFO	0	EFO	Hyperlipoproteinemia type 5	Hyperlipoproteinemia type 5
Orphanet:181425	Orphanet:70470	\N	"" []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	221876	\N	\N	EFO	1	EFO	Major hypertriglyceridemia	Hyperlipoproteinemia type 5
Orphanet:181422	Orphanet:181425	\N	"" []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	577858	\N	\N	EFO	2	EFO	Rare hyperlipidemia	Hyperlipoproteinemia type 5
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	1161286	\N	\N	EFO	3	EFO	Rare dyslipidemia	Hyperlipoproteinemia type 5
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	2044757	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hyperlipoproteinemia type 5
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	2044758	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Hyperlipoproteinemia type 5
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	3194859	\N	\N	EFO	5	EFO	genetic disorder	Hyperlipoproteinemia type 5
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	3194860	\N	\N	EFO	5	EFO	endocrine system disease	Hyperlipoproteinemia type 5
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	3194861	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Hyperlipoproteinemia type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	5417369	\N	\N	EFO	7	EFO	disease	Hyperlipoproteinemia type 5
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	4400824	\N	\N	EFO	6	EFO	disease	Hyperlipoproteinemia type 5
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	4400825	\N	\N	EFO	6	EFO	genetic disorder	Hyperlipoproteinemia type 5
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	4400826	\N	\N	EFO	6	EFO	metabolic disease	Hyperlipoproteinemia type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	5998528	\N	\N	EFO	8	EFO	disposition	Hyperlipoproteinemia type 5
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	5417370	\N	\N	EFO	7	EFO	disease	Hyperlipoproteinemia type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	6551635	\N	\N	EFO	9	EFO	material property	Hyperlipoproteinemia type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:70470	"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." []	6889503	\N	\N	EFO	10	EFO	experimental factor	Hyperlipoproteinemia type 5
Orphanet:70472	\N	\N	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	77707	\N	\N	EFO	0	EFO	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:506	Orphanet:70472	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	221877	\N	\N	EFO	1	EFO	Leigh syndrome	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:225703	Orphanet:506	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	577859	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:2443	Orphanet:506	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	577860	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:68385	Orphanet:506	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	577861	\N	\N	EFO	2	EFO	Neurometabolic disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:98666	Orphanet:506	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	577862	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:98683	Orphanet:506	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	577863	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:98687	Orphanet:506	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	577864	\N	\N	EFO	2	EFO	Supranuclear oculomotor palsy	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:98695	Orphanet:506	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	577865	\N	\N	EFO	2	EFO	Mitochondrial disease with eye involvement	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	1161287	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	1161288	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	1161289	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	1161290	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	1161291	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	1161292	\N	\N	EFO	3	EFO	Oculomotor palsy	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	1161293	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	2044759	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	2044760	\N	\N	EFO	4	EFO	Mitochondrial disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	5417371	\N	\N	EFO	7	EFO	genetic disorder	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	2044762	\N	\N	EFO	4	EFO	Retinal dystrophy	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	2044763	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	2044764	\N	\N	EFO	4	EFO	palsy	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	2044765	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	2044766	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	3194862	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	3194863	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	3194864	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	5817827	\N	\N	EFO	8	EFO	disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	3194866	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	3194867	\N	\N	EFO	5	EFO	Rare genetic eye disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	3194868	\N	\N	EFO	5	EFO	nervous system disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	5417376	\N	\N	EFO	7	EFO	genetic disorder	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	5417377	\N	\N	EFO	7	EFO	eye disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	4400827	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	4400828	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	4400829	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	6410306	\N	\N	EFO	9	EFO	disposition	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	4400831	\N	\N	EFO	6	EFO	Rare genetic eye disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	4400834	\N	\N	EFO	6	EFO	disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	5877635	\N	\N	EFO	8	EFO	disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	5417372	\N	\N	EFO	7	EFO	genetic disorder	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	5417373	\N	\N	EFO	7	EFO	genetic disorder	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	5417374	\N	\N	EFO	7	EFO	metabolic disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	6808128	\N	\N	EFO	10	EFO	material property	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	6152436	\N	\N	EFO	8	EFO	disease	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:70472	"Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." []	7048783	\N	\N	EFO	11	EFO	experimental factor	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Orphanet:70474	\N	\N	"" []	Orphanet:70474	"" []	77708	\N	\N	EFO	0	EFO	Leigh syndrome with cardiomyopathy	Leigh syndrome with cardiomyopathy
Orphanet:506	Orphanet:70474	\N	"" []	Orphanet:70474	"" []	221878	\N	\N	EFO	1	EFO	Leigh syndrome	Leigh syndrome with cardiomyopathy
Orphanet:225703	Orphanet:506	\N	"" []	Orphanet:70474	"" []	577866	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Leigh syndrome with cardiomyopathy
Orphanet:2443	Orphanet:506	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:70474	"" []	577867	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Leigh syndrome with cardiomyopathy
Orphanet:68385	Orphanet:506	\N	"" []	Orphanet:70474	"" []	577868	\N	\N	EFO	2	EFO	Neurometabolic disease	Leigh syndrome with cardiomyopathy
Orphanet:98666	Orphanet:506	\N	"" []	Orphanet:70474	"" []	577869	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Leigh syndrome with cardiomyopathy
Orphanet:98683	Orphanet:506	\N	"" []	Orphanet:70474	"" []	577870	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Leigh syndrome with cardiomyopathy
Orphanet:98687	Orphanet:506	\N	"" []	Orphanet:70474	"" []	577871	\N	\N	EFO	2	EFO	Supranuclear oculomotor palsy	Leigh syndrome with cardiomyopathy
Orphanet:98695	Orphanet:506	\N	"" []	Orphanet:70474	"" []	577872	\N	\N	EFO	2	EFO	Mitochondrial disease with eye involvement	Leigh syndrome with cardiomyopathy
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:70474	"" []	1161294	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Leigh syndrome with cardiomyopathy
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:70474	"" []	1161295	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Leigh syndrome with cardiomyopathy
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:70474	"" []	1161296	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Leigh syndrome with cardiomyopathy
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:70474	"" []	1161297	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Leigh syndrome with cardiomyopathy
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:70474	"" []	1161298	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Leigh syndrome with cardiomyopathy
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:70474	"" []	1161299	\N	\N	EFO	3	EFO	Oculomotor palsy	Leigh syndrome with cardiomyopathy
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:70474	"" []	1161300	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Leigh syndrome with cardiomyopathy
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:70474	"" []	2044767	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Leigh syndrome with cardiomyopathy
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:70474	"" []	2044768	\N	\N	EFO	4	EFO	Mitochondrial disease	Leigh syndrome with cardiomyopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70474	"" []	5417378	\N	\N	EFO	7	EFO	genetic disorder	Leigh syndrome with cardiomyopathy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:70474	"" []	2044770	\N	\N	EFO	4	EFO	Retinal dystrophy	Leigh syndrome with cardiomyopathy
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:70474	"" []	2044771	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Leigh syndrome with cardiomyopathy
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:70474	"" []	2044772	\N	\N	EFO	4	EFO	palsy	Leigh syndrome with cardiomyopathy
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:70474	"" []	2044773	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Leigh syndrome with cardiomyopathy
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:70474	"" []	2044774	\N	\N	EFO	4	EFO	Rare genetic eye disease	Leigh syndrome with cardiomyopathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:70474	"" []	3194871	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Leigh syndrome with cardiomyopathy
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:70474	"" []	3194872	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Leigh syndrome with cardiomyopathy
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:70474	"" []	3194873	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Leigh syndrome with cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70474	"" []	5817828	\N	\N	EFO	8	EFO	disease	Leigh syndrome with cardiomyopathy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:70474	"" []	3194875	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Leigh syndrome with cardiomyopathy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:70474	"" []	3194876	\N	\N	EFO	5	EFO	Rare genetic eye disease	Leigh syndrome with cardiomyopathy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:70474	"" []	3194877	\N	\N	EFO	5	EFO	nervous system disease	Leigh syndrome with cardiomyopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70474	"" []	5417383	\N	\N	EFO	7	EFO	genetic disorder	Leigh syndrome with cardiomyopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:70474	"" []	5417384	\N	\N	EFO	7	EFO	eye disease	Leigh syndrome with cardiomyopathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:70474	"" []	4400837	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Leigh syndrome with cardiomyopathy
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:70474	"" []	4400838	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Leigh syndrome with cardiomyopathy
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:70474	"" []	4400839	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Leigh syndrome with cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:70474	"" []	6410307	\N	\N	EFO	9	EFO	disposition	Leigh syndrome with cardiomyopathy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:70474	"" []	4400841	\N	\N	EFO	6	EFO	Rare genetic eye disease	Leigh syndrome with cardiomyopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70474	"" []	4400844	\N	\N	EFO	6	EFO	disease	Leigh syndrome with cardiomyopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70474	"" []	5877637	\N	\N	EFO	8	EFO	disease	Leigh syndrome with cardiomyopathy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70474	"" []	5417379	\N	\N	EFO	7	EFO	genetic disorder	Leigh syndrome with cardiomyopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70474	"" []	5417380	\N	\N	EFO	7	EFO	genetic disorder	Leigh syndrome with cardiomyopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:70474	"" []	5417381	\N	\N	EFO	7	EFO	metabolic disease	Leigh syndrome with cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:70474	"" []	6808129	\N	\N	EFO	10	EFO	material property	Leigh syndrome with cardiomyopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70474	"" []	6152438	\N	\N	EFO	8	EFO	disease	Leigh syndrome with cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:70474	"" []	7048784	\N	\N	EFO	11	EFO	experimental factor	Leigh syndrome with cardiomyopathy
Orphanet:705	\N	\N	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	77709	\N	\N	EFO	0	EFO	Pendred syndrome	Pendred syndrome
Orphanet:177107	Orphanet:705	\N	"" []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	221879	\N	\N	EFO	1	EFO	Syndromic hypothyroidism	Pendred syndrome
Orphanet:90642	Orphanet:705	\N	"" []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	221880	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Pendred syndrome
Orphanet:226292	Orphanet:177107	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	577873	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Pendred syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	577874	\N	\N	EFO	2	EFO	Rare genetic deafness	Pendred syndrome
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	1161301	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Pendred syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	1161302	\N	\N	EFO	3	EFO	genetic disorder	Pendred syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	1161303	\N	\N	EFO	3	EFO	auditory system disease	Pendred syndrome
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	2044775	\N	\N	EFO	4	EFO	Rare hypothyroidism	Pendred syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	6152441	\N	\N	EFO	8	EFO	disease	Pendred syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	2044777	\N	\N	EFO	4	EFO	sensory system disease	Pendred syndrome
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	3194880	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Pendred syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	6378975	\N	\N	EFO	9	EFO	disposition	Pendred syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	3194882	\N	\N	EFO	5	EFO	nervous system disease	Pendred syndrome
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	4400847	\N	\N	EFO	6	EFO	thyroid disease	Pendred syndrome
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	4400848	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Pendred syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	6778808	\N	\N	EFO	10	EFO	material property	Pendred syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	4400850	\N	\N	EFO	6	EFO	disease	Pendred syndrome
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	5417385	\N	\N	EFO	7	EFO	endocrine system disease	Pendred syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	5417386	\N	\N	EFO	7	EFO	genetic disorder	Pendred syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	5417387	\N	\N	EFO	7	EFO	endocrine system disease	Pendred syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	7030000	\N	\N	EFO	11	EFO	experimental factor	Pendred syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:705	"Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." []	6152440	\N	\N	EFO	8	EFO	disease	Pendred syndrome
Orphanet:70589	\N	\N	"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." []	Orphanet:70589	"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." []	77710	\N	\N	EFO	0	EFO	Bronchopulmonary dysplasia	Bronchopulmonary dysplasia
EFO:1002018	Orphanet:70589	\N	"a respiratory system disease that has its manifestation in the bronchus" []	Orphanet:70589	"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." []	221881	\N	\N	EFO	1	EFO	bronchial disease	Bronchopulmonary dysplasia
EFO:0000684	EFO:1002018	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:70589	"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." []	577875	\N	\N	EFO	2	EFO	respiratory system disease	Bronchopulmonary dysplasia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70589	"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." []	1161304	\N	\N	EFO	3	EFO	disease	Bronchopulmonary dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:70589	"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." []	2044778	\N	\N	EFO	4	EFO	disposition	Bronchopulmonary dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:70589	"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." []	3194883	\N	\N	EFO	5	EFO	material property	Bronchopulmonary dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:70589	"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." []	4400851	\N	\N	EFO	6	EFO	experimental factor	Bronchopulmonary dysplasia
Orphanet:70592	\N	\N	"" []	Orphanet:70592	"" []	77711	\N	\N	EFO	0	EFO	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Orphanet:183710	Orphanet:70592	\N	"" []	Orphanet:70592	"" []	221882	\N	\N	EFO	1	EFO	Genetic susceptibility to infections due to particular pathogens	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:70592	"" []	577876	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:70592	"" []	1161305	\N	\N	EFO	3	EFO	Primary immunodeficiency	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:70592	"" []	2044779	\N	\N	EFO	4	EFO	Rare genetic immune disease	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70592	"" []	3194884	\N	\N	EFO	5	EFO	genetic disorder	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:70592	"" []	3194885	\N	\N	EFO	5	EFO	immune system disease	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70592	"" []	4400852	\N	\N	EFO	6	EFO	disease	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70592	"" []	4400853	\N	\N	EFO	6	EFO	disease	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:70592	"" []	5417390	\N	\N	EFO	7	EFO	disposition	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:70592	"" []	6152442	\N	\N	EFO	8	EFO	material property	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:70592	"" []	6634060	\N	\N	EFO	9	EFO	experimental factor	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Orphanet:70593	\N	\N	"" []	Orphanet:70593	"" []	77712	\N	\N	EFO	0	EFO	Immunodeficiency due to selective anti-polysaccharide antibody deficiency	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Orphanet:169443	Orphanet:70593	\N	"" []	Orphanet:70593	"" []	221883	\N	\N	EFO	1	EFO	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Orphanet:101977	Orphanet:169443	\N	"" []	Orphanet:70593	"" []	577877	\N	\N	EFO	2	EFO	Immunodeficiency predominantly affecting antibody production	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:70593	"" []	1161306	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:70593	"" []	2044780	\N	\N	EFO	4	EFO	Primary immunodeficiency	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:70593	"" []	3194886	\N	\N	EFO	5	EFO	Rare genetic immune disease	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70593	"" []	4400854	\N	\N	EFO	6	EFO	genetic disorder	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:70593	"" []	4400855	\N	\N	EFO	6	EFO	immune system disease	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70593	"" []	5417391	\N	\N	EFO	7	EFO	disease	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70593	"" []	5417392	\N	\N	EFO	7	EFO	disease	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:70593	"" []	6152443	\N	\N	EFO	8	EFO	disposition	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:70593	"" []	6634061	\N	\N	EFO	9	EFO	material property	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:70593	"" []	6926230	\N	\N	EFO	10	EFO	experimental factor	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Orphanet:70594	\N	\N	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	77713	\N	\N	EFO	0	EFO	Dopa-responsive dystonia due to sepiapterin reductase deficiency	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:255	Orphanet:70594	\N	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	221884	\N	\N	EFO	1	EFO	Dopa-responsive dystonia	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:309819	Orphanet:70594	\N	"" []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	221885	\N	\N	EFO	1	EFO	Disorder of pterin metabolism	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:391711	Orphanet:255	\N	"" []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	577878	\N	\N	EFO	2	EFO	Persistent combined dystonia	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:68385	Orphanet:255	\N	"" []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	577879	\N	\N	EFO	2	EFO	Neurometabolic disease	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:79169	Orphanet:309819	\N	"" []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	577880	\N	\N	EFO	2	EFO	Disorder of neurotransmitter metabolism and transport	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	1161307	\N	\N	EFO	3	EFO	Combined dystonia	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	1161308	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	1161309	\N	\N	EFO	3	EFO	Disorder of biogenic amine metabolism and transport	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	2044781	\N	\N	EFO	4	EFO	Rare genetic dystonia	Dopa-responsive dystonia due to sepiapterin reductase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	5417394	\N	\N	EFO	7	EFO	genetic disorder	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	2044783	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	3194887	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Dopa-responsive dystonia due to sepiapterin reductase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	5817829	\N	\N	EFO	8	EFO	disease	Dopa-responsive dystonia due to sepiapterin reductase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	3194889	\N	\N	EFO	5	EFO	genetic disorder	Dopa-responsive dystonia due to sepiapterin reductase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	3194890	\N	\N	EFO	5	EFO	metabolic disease	Dopa-responsive dystonia due to sepiapterin reductase deficiency
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	4400856	\N	\N	EFO	6	EFO	movement disorder	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	4400857	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Dopa-responsive dystonia due to sepiapterin reductase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	6410308	\N	\N	EFO	9	EFO	disposition	Dopa-responsive dystonia due to sepiapterin reductase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	4400860	\N	\N	EFO	6	EFO	disease	Dopa-responsive dystonia due to sepiapterin reductase deficiency
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	5417393	\N	\N	EFO	7	EFO	nervous system disease	Dopa-responsive dystonia due to sepiapterin reductase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	6808130	\N	\N	EFO	10	EFO	material property	Dopa-responsive dystonia due to sepiapterin reductase deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	6152444	\N	\N	EFO	8	EFO	disease	Dopa-responsive dystonia due to sepiapterin reductase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:70594	"Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." []	7048785	\N	\N	EFO	11	EFO	experimental factor	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Orphanet:70595	\N	\N	"" []	Orphanet:70595	"" []	77714	\N	\N	EFO	0	EFO	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:206966	Orphanet:70595	\N	"" []	Orphanet:70595	"" []	221886	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:225703	Orphanet:70595	\N	"" []	Orphanet:70595	"" []	221887	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:254818	Orphanet:70595	\N	"" []	Orphanet:70595	"" []	221888	\N	\N	EFO	1	EFO	Ataxia neuropathy spectrum	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:70595	"" []	577881	\N	\N	EFO	2	EFO	Muscular lipidosis	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:70595	"" []	577882	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:254807	Orphanet:254818	\N	"" []	Orphanet:70595	"" []	577883	\N	\N	EFO	2	EFO	Multiple mitochondrial DNA deletion syndrome	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:70595	"" []	1161310	\N	\N	EFO	3	EFO	Metabolic myopathy	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:70595	"" []	1161311	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:352456	Orphanet:254807	\N	"" []	Orphanet:70595	"" []	1161312	\N	\N	EFO	3	EFO	Mitochondrial DNA maintenance syndrome	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:70595	"" []	2044784	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:70595	"" []	2044785	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:70595	"" []	2044786	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:70595	"" []	3194891	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:70595	"" []	3194892	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:70595	"" []	3194893	\N	\N	EFO	5	EFO	Mitochondrial oxidative phosphorylation disorder	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:70595	"" []	4400861	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70595	"" []	6152447	\N	\N	EFO	8	EFO	genetic disorder	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:70595	"" []	4400863	\N	\N	EFO	6	EFO	Mitochondrial disease	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:70595	"" []	5417396	\N	\N	EFO	7	EFO	muscular disease	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:70595	"" []	5417397	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70595	"" []	6926232	\N	\N	EFO	10	EFO	disease	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:70595	"" []	5417399	\N	\N	EFO	7	EFO	Developmental anomaly of metabolic origin	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:70595	"" []	5417400	\N	\N	EFO	7	EFO	Disorder of energy metabolism	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:70595	"" []	6152446	\N	\N	EFO	8	EFO	skeletal system disease	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:70595	"" []	7048786	\N	\N	EFO	11	EFO	disposition	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:70595	"" []	6152449	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:70595	"" []	6152450	\N	\N	EFO	8	EFO	Inborn errors of metabolism	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70595	"" []	6634062	\N	\N	EFO	9	EFO	disease	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:70595	"" []	7190253	\N	\N	EFO	12	EFO	material property	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70595	"" []	6634064	\N	\N	EFO	9	EFO	genetic disorder	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:70595	"" []	6634065	\N	\N	EFO	9	EFO	genetic disorder	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:70595	"" []	6634066	\N	\N	EFO	9	EFO	metabolic disease	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:70595	"" []	7281821	\N	\N	EFO	13	EFO	experimental factor	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:70595	"" []	6926233	\N	\N	EFO	10	EFO	disease	Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Orphanet:708	\N	\N	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	77715	\N	\N	EFO	0	EFO	Peters anomaly	Peters anomaly
Orphanet:98558	Orphanet:708	\N	"" []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	221889	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	Peters anomaly
Orphanet:98636	Orphanet:708	\N	"" []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	221890	\N	\N	EFO	1	EFO	Corneoiridogoniodysgenesis	Peters anomaly
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	577884	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Peters anomaly
Orphanet:98632	Orphanet:98636	\N	"" []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	577885	\N	\N	EFO	2	EFO	Glaucoma associated with neural crest cell migration anomaly	Peters anomaly
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	5417402	\N	\N	EFO	7	EFO	Rare genetic eye disease	Peters anomaly
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	5417403	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Peters anomaly
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	1161315	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Peters anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	5801878	\N	\N	EFO	8	EFO	genetic disorder	Peters anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	5801879	\N	\N	EFO	8	EFO	eye disease	Peters anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	5801880	\N	\N	EFO	8	EFO	genetic disorder	Peters anomaly
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	2044790	\N	\N	EFO	4	EFO	Hereditary glaucoma	Peters anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	6378976	\N	\N	EFO	9	EFO	disease	Peters anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	6378977	\N	\N	EFO	9	EFO	disease	Peters anomaly
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	3194896	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Peters anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	6778809	\N	\N	EFO	10	EFO	disposition	Peters anomaly
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	4400865	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Peters anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	7030001	\N	\N	EFO	11	EFO	material property	Peters anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:708	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	7181818	\N	\N	EFO	12	EFO	experimental factor	Peters anomaly
Orphanet:709	\N	\N	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	77716	\N	\N	EFO	0	EFO	Peters plus syndrome	Peters plus syndrome
Orphanet:102283	Orphanet:709	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	221891	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Peters plus syndrome
Orphanet:108987	Orphanet:709	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	221892	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Peters plus syndrome
Orphanet:309505	Orphanet:709	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	221893	\N	\N	EFO	1	EFO	Disorder of fucoglycosan synthesis	Peters plus syndrome
Orphanet:371064	Orphanet:709	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	221894	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Peters plus syndrome
Orphanet:371183	Orphanet:709	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	221895	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with cardiac malformation as a major feature	Peters plus syndrome
Orphanet:98638	Orphanet:709	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	221896	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Peters plus syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	577886	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Peters plus syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	577887	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Peters plus syndrome
Orphanet:309447	Orphanet:309505	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	577888	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Peters plus syndrome
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	577889	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Peters plus syndrome
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	577890	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Peters plus syndrome
Orphanet:156532	Orphanet:371183	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	577891	\N	\N	EFO	2	EFO	Rare syndrome with cardiac malformations	Peters plus syndrome
Orphanet:371235	Orphanet:371183	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	577892	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Peters plus syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	577893	\N	\N	EFO	2	EFO	Rare genetic eye disease	Peters plus syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	1161316	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Peters plus syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	1161317	\N	\N	EFO	3	EFO	Rare genetic eye disease	Peters plus syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	1161318	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Peters plus syndrome
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	1161319	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Peters plus syndrome
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	1161320	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Peters plus syndrome
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	1161321	\N	\N	EFO	3	EFO	Neurometabolic disease	Peters plus syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	1161322	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Peters plus syndrome
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	1161323	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Peters plus syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	2044792	\N	\N	EFO	4	EFO	genetic disorder	Peters plus syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	2044793	\N	\N	EFO	4	EFO	eye disease	Peters plus syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	3194902	\N	\N	EFO	5	EFO	genetic disorder	Peters plus syndrome
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	2044794	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Peters plus syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	2044795	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Peters plus syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	2044796	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Peters plus syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	2044797	\N	\N	EFO	4	EFO	genetic disorder	Peters plus syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	2044798	\N	\N	EFO	4	EFO	heart disease	Peters plus syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	2044799	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Peters plus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	5183195	\N	\N	EFO	7	EFO	disease	Peters plus syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	3000426	\N	\N	EFO	5	EFO	disease	Peters plus syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	3194897	\N	\N	EFO	5	EFO	genetic disorder	Peters plus syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	3194898	\N	\N	EFO	5	EFO	metabolic disease	Peters plus syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	3194899	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Peters plus syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	4400867	\N	\N	EFO	6	EFO	genetic disorder	Peters plus syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	3194901	\N	\N	EFO	5	EFO	cardiovascular disease	Peters plus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	5817830	\N	\N	EFO	8	EFO	disposition	Peters plus syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	4400866	\N	\N	EFO	6	EFO	disease	Peters plus syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	4400868	\N	\N	EFO	6	EFO	disease	Peters plus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	6410309	\N	\N	EFO	9	EFO	material property	Peters plus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:709	"Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism." []	6808131	\N	\N	EFO	10	EFO	experimental factor	Peters plus syndrome
Orphanet:71	\N	\N	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	77717	\N	\N	EFO	0	EFO	Chylomicron retention disease	Chylomicron retention disease
Orphanet:31154	Orphanet:71	\N	"" []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	221897	\N	\N	EFO	1	EFO	Hypobetalipoproteinemia	Chylomicron retention disease
Orphanet:363306	Orphanet:71	\N	"" []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	221898	\N	\N	EFO	1	EFO	Genetic intestinal disease due to fat malabsorption	Chylomicron retention disease
Orphanet:181431	Orphanet:31154	\N	"" []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	577894	\N	\N	EFO	2	EFO	Rare hypolipidemia	Chylomicron retention disease
Orphanet:165655	Orphanet:363306	\N	"" []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	577895	\N	\N	EFO	2	EFO	Genetic intestinal disease	Chylomicron retention disease
Orphanet:101953	Orphanet:181431	\N	"" []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	1161326	\N	\N	EFO	3	EFO	Rare dyslipidemia	Chylomicron retention disease
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	1161327	\N	\N	EFO	3	EFO	digestive system disease	Chylomicron retention disease
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	1161328	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Chylomicron retention disease
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	2044802	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Chylomicron retention disease
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	2044803	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Chylomicron retention disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	2044804	\N	\N	EFO	4	EFO	disease	Chylomicron retention disease
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	2044805	\N	\N	EFO	4	EFO	genetic disorder	Chylomicron retention disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	3194904	\N	\N	EFO	5	EFO	genetic disorder	Chylomicron retention disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	3194905	\N	\N	EFO	5	EFO	endocrine system disease	Chylomicron retention disease
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	3194906	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Chylomicron retention disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	5877641	\N	\N	EFO	8	EFO	disposition	Chylomicron retention disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	5417405	\N	\N	EFO	7	EFO	disease	Chylomicron retention disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	4400871	\N	\N	EFO	6	EFO	disease	Chylomicron retention disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	4400872	\N	\N	EFO	6	EFO	genetic disorder	Chylomicron retention disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	4400873	\N	\N	EFO	6	EFO	metabolic disease	Chylomicron retention disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	6410310	\N	\N	EFO	9	EFO	material property	Chylomicron retention disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	5417406	\N	\N	EFO	7	EFO	disease	Chylomicron retention disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71	"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." []	6808132	\N	\N	EFO	10	EFO	experimental factor	Chylomicron retention disease
Orphanet:710	\N	\N	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	77718	\N	\N	EFO	0	EFO	Pfeiffer syndrome	Pfeiffer syndrome
Orphanet:946	Orphanet:710	\N	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	221899	\N	\N	EFO	1	EFO	Acrocephalosyndactyly	Pfeiffer syndrome
Orphanet:98684	Orphanet:710	\N	"" []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	221900	\N	\N	EFO	1	EFO	Craniostenosis associated with a strabismus	Pfeiffer syndrome
Orphanet:139393	Orphanet:946	\N	"" []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	577896	\N	\N	EFO	2	EFO	Syndromic craniosynostosis	Pfeiffer syndrome
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	577897	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Pfeiffer syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	1161329	\N	\N	EFO	3	EFO	Craniosynostosis	Pfeiffer syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	1161330	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Pfeiffer syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	2044806	\N	\N	EFO	4	EFO	Genetic cranial malformation	Pfeiffer syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	2044807	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Pfeiffer syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	2044808	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Pfeiffer syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	3194909	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pfeiffer syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	3194910	\N	\N	EFO	5	EFO	Rare genetic bone disease	Pfeiffer syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	3194911	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Pfeiffer syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	3194912	\N	\N	EFO	5	EFO	Rare genetic eye disease	Pfeiffer syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	5417410	\N	\N	EFO	7	EFO	genetic disorder	Pfeiffer syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	4400877	\N	\N	EFO	6	EFO	genetic disorder	Pfeiffer syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	4400878	\N	\N	EFO	6	EFO	bone disease	Pfeiffer syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	4400879	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Pfeiffer syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	4400880	\N	\N	EFO	6	EFO	genetic disorder	Pfeiffer syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	4400881	\N	\N	EFO	6	EFO	eye disease	Pfeiffer syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	5998534	\N	\N	EFO	8	EFO	disease	Pfeiffer syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	5417409	\N	\N	EFO	7	EFO	skeletal system disease	Pfeiffer syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	5417411	\N	\N	EFO	7	EFO	disease	Pfeiffer syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	6551639	\N	\N	EFO	9	EFO	disposition	Pfeiffer syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	6152453	\N	\N	EFO	8	EFO	disease	Pfeiffer syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	6889504	\N	\N	EFO	10	EFO	material property	Pfeiffer syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:710	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	7086056	\N	\N	EFO	11	EFO	experimental factor	Pfeiffer syndrome
Orphanet:711	\N	\N	"Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." []	Orphanet:711	"Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." []	77719	\N	\N	EFO	0	EFO	Glycogen storage disease due to phosphoglucomutase deficiency	Glycogen storage disease due to phosphoglucomutase deficiency
Orphanet:79201	Orphanet:711	\N	"" []	Orphanet:711	"Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." []	221901	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to phosphoglucomutase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:711	"Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." []	577898	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to phosphoglucomutase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:711	"Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." []	1161331	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to phosphoglucomutase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:711	"Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." []	2044809	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to phosphoglucomutase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:711	"Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." []	2044810	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to phosphoglucomutase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:711	"Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." []	3194913	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to phosphoglucomutase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:711	"Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." []	3194914	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to phosphoglucomutase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:711	"Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." []	4400882	\N	\N	EFO	6	EFO	disposition	Glycogen storage disease due to phosphoglucomutase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:711	"Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." []	5417412	\N	\N	EFO	7	EFO	material property	Glycogen storage disease due to phosphoglucomutase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:711	"Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." []	6152454	\N	\N	EFO	8	EFO	experimental factor	Glycogen storage disease due to phosphoglucomutase deficiency
Orphanet:712	\N	\N	"" []	Orphanet:712	"" []	77720	\N	\N	EFO	0	EFO	Hemolytic anemia due to glucophosphate isomerase deficiency	Hemolytic anemia due to glucophosphate isomerase deficiency
Orphanet:308459	Orphanet:712	\N	"" []	Orphanet:712	"" []	221902	\N	\N	EFO	1	EFO	Disorder of glycolysis	Hemolytic anemia due to glucophosphate isomerase deficiency
Orphanet:98372	Orphanet:712	\N	"" []	Orphanet:712	"" []	221903	\N	\N	EFO	1	EFO	Hemolytic anemia due to a disorder of glycolytic enzymes	Hemolytic anemia due to glucophosphate isomerase deficiency
Orphanet:79161	Orphanet:308459	\N	"" []	Orphanet:712	"" []	577899	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Hemolytic anemia due to glucophosphate isomerase deficiency
Orphanet:98369	Orphanet:98372	\N	"" []	Orphanet:712	"" []	577900	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Hemolytic anemia due to glucophosphate isomerase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:712	"" []	1161332	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hemolytic anemia due to glucophosphate isomerase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:712	"" []	1161333	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Hemolytic anemia due to glucophosphate isomerase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:712	"" []	2044811	\N	\N	EFO	4	EFO	genetic disorder	Hemolytic anemia due to glucophosphate isomerase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:712	"" []	2044812	\N	\N	EFO	4	EFO	metabolic disease	Hemolytic anemia due to glucophosphate isomerase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:712	"" []	2044813	\N	\N	EFO	4	EFO	Rare constitutional anemia	Hemolytic anemia due to glucophosphate isomerase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:712	"" []	5417414	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to glucophosphate isomerase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:712	"" []	3194916	\N	\N	EFO	5	EFO	disease	Hemolytic anemia due to glucophosphate isomerase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:712	"" []	3194917	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Hemolytic anemia due to glucophosphate isomerase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:712	"" []	5877642	\N	\N	EFO	8	EFO	disposition	Hemolytic anemia due to glucophosphate isomerase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:712	"" []	4400884	\N	\N	EFO	6	EFO	genetic disorder	Hemolytic anemia due to glucophosphate isomerase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:712	"" []	4400885	\N	\N	EFO	6	EFO	hematological system disease	Hemolytic anemia due to glucophosphate isomerase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:712	"" []	6470873	\N	\N	EFO	9	EFO	material property	Hemolytic anemia due to glucophosphate isomerase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:712	"" []	5417415	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to glucophosphate isomerase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:712	"" []	6848751	\N	\N	EFO	10	EFO	experimental factor	Hemolytic anemia due to glucophosphate isomerase deficiency
Orphanet:71202	\N	\N	"" []	Orphanet:71202	"" []	77721	\N	\N	EFO	0	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Rare hemorrhagic disorder due to a constitutional platelet anomaly
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:71202	"" []	221904	\N	\N	EFO	1	EFO	Rare genetic coagulation disorder	Rare hemorrhagic disorder due to a constitutional platelet anomaly
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:71202	"" []	577901	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Rare hemorrhagic disorder due to a constitutional platelet anomaly
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71202	"" []	1161334	\N	\N	EFO	3	EFO	genetic disorder	Rare hemorrhagic disorder due to a constitutional platelet anomaly
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:71202	"" []	1161335	\N	\N	EFO	3	EFO	hematological system disease	Rare hemorrhagic disorder due to a constitutional platelet anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71202	"" []	2044814	\N	\N	EFO	4	EFO	disease	Rare hemorrhagic disorder due to a constitutional platelet anomaly
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71202	"" []	2044815	\N	\N	EFO	4	EFO	disease	Rare hemorrhagic disorder due to a constitutional platelet anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71202	"" []	3194918	\N	\N	EFO	5	EFO	disposition	Rare hemorrhagic disorder due to a constitutional platelet anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71202	"" []	4400886	\N	\N	EFO	6	EFO	material property	Rare hemorrhagic disorder due to a constitutional platelet anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71202	"" []	5417416	\N	\N	EFO	7	EFO	experimental factor	Rare hemorrhagic disorder due to a constitutional platelet anomaly
Orphanet:71212	\N	\N	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	77722	\N	\N	EFO	0	EFO	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:165985	Orphanet:71212	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	221905	\N	\N	EFO	1	EFO	Diazoxide-sensitive diffuse hyperinsulinism	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:309127	Orphanet:71212	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	221906	\N	\N	EFO	1	EFO	3-hydroxyacyl-CoA dehydrogenase deficiency	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:68385	Orphanet:71212	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	221907	\N	\N	EFO	1	EFO	Neurometabolic disease	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:657	Orphanet:165985	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	577902	\N	\N	EFO	2	EFO	Congenital isolated hyperinsulinism	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:309115	Orphanet:309127	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	577903	\N	\N	EFO	2	EFO	Disorder of mitochondrial fatty acid oxidation	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	577904	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	1161336	\N	\N	EFO	3	EFO	Familial hyperinsulinism	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	1161337	\N	\N	EFO	3	EFO	Overgrowth syndrome	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	1161338	\N	\N	EFO	3	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	1161339	\N	\N	EFO	3	EFO	genetic disorder	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	2044816	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	2044817	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	2044818	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	5417417	\N	\N	EFO	7	EFO	disease	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	3194919	\N	\N	EFO	5	EFO	genetic disorder	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	3194920	\N	\N	EFO	5	EFO	endocrine system disease	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	3194921	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	3194922	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	5817831	\N	\N	EFO	8	EFO	disposition	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	4400888	\N	\N	EFO	6	EFO	disease	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	4400889	\N	\N	EFO	6	EFO	genetic disorder	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	4400890	\N	\N	EFO	6	EFO	genetic disorder	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	4400891	\N	\N	EFO	6	EFO	metabolic disease	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	6410311	\N	\N	EFO	9	EFO	material property	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	5417418	\N	\N	EFO	7	EFO	disease	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71212	"Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." []	6808133	\N	\N	EFO	10	EFO	experimental factor	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Orphanet:71213	\N	\N	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	77723	\N	\N	EFO	0	EFO	Retinal cavernous hemangioma	Retinal cavernous hemangioma
Orphanet:371436	Orphanet:71213	\N	"" []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	221908	\N	\N	EFO	1	EFO	Genetic neurovascular malformation	Retinal cavernous hemangioma
Orphanet:98669	Orphanet:71213	\N	"" []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	221909	\N	\N	EFO	1	EFO	Congenital vitreoretinal dysplasia	Retinal cavernous hemangioma
Orphanet:183503	Orphanet:371436	\N	"" []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	577905	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Retinal cavernous hemangioma
Orphanet:211240	Orphanet:371436	\N	"" []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	577906	\N	\N	EFO	2	EFO	Genetic vascular anomaly	Retinal cavernous hemangioma
Orphanet:98668	Orphanet:98669	\N	"" []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	577907	\N	\N	EFO	2	EFO	Vitreoretinopathy	Retinal cavernous hemangioma
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	1161340	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Retinal cavernous hemangioma
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	1161341	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Retinal cavernous hemangioma
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	1161342	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Retinal cavernous hemangioma
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	2044820	\N	\N	EFO	4	EFO	genetic disorder	Retinal cavernous hemangioma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	2044821	\N	\N	EFO	4	EFO	genetic disorder	Retinal cavernous hemangioma
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	2044822	\N	\N	EFO	4	EFO	Rare genetic eye disease	Retinal cavernous hemangioma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	4400894	\N	\N	EFO	6	EFO	disease	Retinal cavernous hemangioma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	3194925	\N	\N	EFO	5	EFO	genetic disorder	Retinal cavernous hemangioma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	3194926	\N	\N	EFO	5	EFO	eye disease	Retinal cavernous hemangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	5183199	\N	\N	EFO	7	EFO	disposition	Retinal cavernous hemangioma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	4400895	\N	\N	EFO	6	EFO	disease	Retinal cavernous hemangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	5998535	\N	\N	EFO	8	EFO	material property	Retinal cavernous hemangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71213	"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." []	6551640	\N	\N	EFO	9	EFO	experimental factor	Retinal cavernous hemangioma
Orphanet:71267	\N	\N	"" []	Orphanet:71267	"" []	77724	\N	\N	EFO	0	EFO	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
Orphanet:180766	Orphanet:71267	\N	"" []	Orphanet:71267	"" []	221910	\N	\N	EFO	1	EFO	Malformative syndrome with dentinogenesis imperfecta	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
Orphanet:183580	Orphanet:71267	\N	"" []	Orphanet:71267	"" []	221911	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
Orphanet:90642	Orphanet:71267	\N	"" []	Orphanet:71267	"" []	221912	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
Orphanet:77830	Orphanet:180766	\N	"" []	Orphanet:71267	"" []	577908	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:71267	"" []	577909	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:71267	"" []	577910	\N	\N	EFO	2	EFO	Rare genetic deafness	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71267	"" []	1161343	\N	\N	EFO	3	EFO	genetic disorder	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71267	"" []	1161344	\N	\N	EFO	3	EFO	genetic disorder	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71267	"" []	1161345	\N	\N	EFO	3	EFO	genetic disorder	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:71267	"" []	1161346	\N	\N	EFO	3	EFO	auditory system disease	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71267	"" []	2044823	\N	\N	EFO	4	EFO	disease	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:71267	"" []	2044824	\N	\N	EFO	4	EFO	sensory system disease	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71267	"" []	5417422	\N	\N	EFO	7	EFO	disposition	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:71267	"" []	3194928	\N	\N	EFO	5	EFO	nervous system disease	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71267	"" []	5877644	\N	\N	EFO	8	EFO	material property	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71267	"" []	4400897	\N	\N	EFO	6	EFO	disease	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71267	"" []	6470875	\N	\N	EFO	9	EFO	experimental factor	Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
Orphanet:71270	\N	\N	"" []	Orphanet:71270	"" []	77725	\N	\N	EFO	0	EFO	Auriculoocular anomalies - cleft lip	Auriculoocular anomalies - cleft lip
Orphanet:139039	Orphanet:71270	\N	"" []	Orphanet:71270	"" []	221913	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Auriculoocular anomalies - cleft lip
Orphanet:330206	Orphanet:71270	\N	"" []	Orphanet:71270	"" []	221914	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Auriculoocular anomalies - cleft lip
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:71270	"" []	577911	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Auriculoocular anomalies - cleft lip
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:71270	"" []	577912	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Auriculoocular anomalies - cleft lip
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:71270	"" []	1161347	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Auriculoocular anomalies - cleft lip
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:71270	"" []	1161348	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Auriculoocular anomalies - cleft lip
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:71270	"" []	2044825	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Auriculoocular anomalies - cleft lip
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71270	"" []	4400898	\N	\N	EFO	6	EFO	genetic disorder	Auriculoocular anomalies - cleft lip
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:71270	"" []	3194929	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Auriculoocular anomalies - cleft lip
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71270	"" []	5060205	\N	\N	EFO	7	EFO	disease	Auriculoocular anomalies - cleft lip
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71270	"" []	5877645	\N	\N	EFO	8	EFO	disposition	Auriculoocular anomalies - cleft lip
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71270	"" []	6470876	\N	\N	EFO	9	EFO	material property	Auriculoocular anomalies - cleft lip
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71270	"" []	6848752	\N	\N	EFO	10	EFO	experimental factor	Auriculoocular anomalies - cleft lip
Orphanet:71271	\N	\N	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	77726	\N	\N	EFO	0	EFO	Split hand - split foot - deafness	Split hand - split foot - deafness
Orphanet:294959	Orphanet:71271	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	221915	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Split hand - split foot - deafness
Orphanet:404574	Orphanet:71271	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	221916	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Split hand - split foot - deafness
Orphanet:90642	Orphanet:71271	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	221917	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Split hand - split foot - deafness
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	577913	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Split hand - split foot - deafness
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	577914	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Split hand - split foot - deafness
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	577915	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Split hand - split foot - deafness
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	577916	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Split hand - split foot - deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	577917	\N	\N	EFO	2	EFO	Rare genetic deafness	Split hand - split foot - deafness
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	1161349	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Split hand - split foot - deafness
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	1161350	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Split hand - split foot - deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	1161351	\N	\N	EFO	3	EFO	genetic disorder	Split hand - split foot - deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	1161352	\N	\N	EFO	3	EFO	auditory system disease	Split hand - split foot - deafness
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	2044827	\N	\N	EFO	4	EFO	Rare genetic bone disease	Split hand - split foot - deafness
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	2044828	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Split hand - split foot - deafness
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	2044829	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Split hand - split foot - deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	5183200	\N	\N	EFO	7	EFO	disease	Split hand - split foot - deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	2044831	\N	\N	EFO	4	EFO	sensory system disease	Split hand - split foot - deafness
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	3194931	\N	\N	EFO	5	EFO	genetic disorder	Split hand - split foot - deafness
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	3194932	\N	\N	EFO	5	EFO	bone disease	Split hand - split foot - deafness
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	3194933	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Split hand - split foot - deafness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	4400902	\N	\N	EFO	6	EFO	genetic disorder	Split hand - split foot - deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	5817832	\N	\N	EFO	8	EFO	disposition	Split hand - split foot - deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	3194936	\N	\N	EFO	5	EFO	nervous system disease	Split hand - split foot - deafness
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	4400901	\N	\N	EFO	6	EFO	skeletal system disease	Split hand - split foot - deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	6410312	\N	\N	EFO	9	EFO	material property	Split hand - split foot - deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	4400904	\N	\N	EFO	6	EFO	disease	Split hand - split foot - deafness
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	5417424	\N	\N	EFO	7	EFO	disease	Split hand - split foot - deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71271	"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." []	6808134	\N	\N	EFO	10	EFO	experimental factor	Split hand - split foot - deafness
Orphanet:71275	\N	\N	"" []	Orphanet:71275	"" []	77727	\N	\N	EFO	0	EFO	Rh deficiency syndrome	Rh deficiency syndrome
Orphanet:98365	Orphanet:71275	\N	"" []	Orphanet:71275	"" []	221918	\N	\N	EFO	1	EFO	Hereditary stomatocytosis	Rh deficiency syndrome
Orphanet:98364	Orphanet:98365	\N	"" []	Orphanet:71275	"" []	577918	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Rh deficiency syndrome
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:71275	"" []	1161353	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Rh deficiency syndrome
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:71275	"" []	2044832	\N	\N	EFO	4	EFO	Rare constitutional anemia	Rh deficiency syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:71275	"" []	3194937	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Rh deficiency syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71275	"" []	4400905	\N	\N	EFO	6	EFO	genetic disorder	Rh deficiency syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:71275	"" []	4400906	\N	\N	EFO	6	EFO	hematological system disease	Rh deficiency syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71275	"" []	5417426	\N	\N	EFO	7	EFO	disease	Rh deficiency syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71275	"" []	5417427	\N	\N	EFO	7	EFO	disease	Rh deficiency syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71275	"" []	6152458	\N	\N	EFO	8	EFO	disposition	Rh deficiency syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71275	"" []	6634068	\N	\N	EFO	9	EFO	material property	Rh deficiency syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71275	"" []	6926235	\N	\N	EFO	10	EFO	experimental factor	Rh deficiency syndrome
Orphanet:71277	\N	\N	"" []	Orphanet:71277	"" []	77728	\N	\N	EFO	0	EFO	Encephalopathy due to GLUT1 deficiency	Encephalopathy due to GLUT1 deficiency
Orphanet:68385	Orphanet:71277	\N	"" []	Orphanet:71277	"" []	221919	\N	\N	EFO	1	EFO	Neurometabolic disease	Encephalopathy due to GLUT1 deficiency
Orphanet:79178	Orphanet:71277	\N	"" []	Orphanet:71277	"" []	221920	\N	\N	EFO	1	EFO	Glucose transport disorder	Encephalopathy due to GLUT1 deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:71277	"" []	577919	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Encephalopathy due to GLUT1 deficiency
Orphanet:309001	Orphanet:79178	\N	"" []	Orphanet:71277	"" []	577920	\N	\N	EFO	2	EFO	Disorder of carbohydrate absorption and transport	Encephalopathy due to GLUT1 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71277	"" []	1161354	\N	\N	EFO	3	EFO	genetic disorder	Encephalopathy due to GLUT1 deficiency
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:71277	"" []	1161355	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Encephalopathy due to GLUT1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71277	"" []	4400908	\N	\N	EFO	6	EFO	disease	Encephalopathy due to GLUT1 deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:71277	"" []	2044834	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Encephalopathy due to GLUT1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71277	"" []	5060207	\N	\N	EFO	7	EFO	disposition	Encephalopathy due to GLUT1 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71277	"" []	3194939	\N	\N	EFO	5	EFO	genetic disorder	Encephalopathy due to GLUT1 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:71277	"" []	3194940	\N	\N	EFO	5	EFO	metabolic disease	Encephalopathy due to GLUT1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71277	"" []	5877647	\N	\N	EFO	8	EFO	material property	Encephalopathy due to GLUT1 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71277	"" []	4400909	\N	\N	EFO	6	EFO	disease	Encephalopathy due to GLUT1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71277	"" []	6470878	\N	\N	EFO	9	EFO	experimental factor	Encephalopathy due to GLUT1 deficiency
Orphanet:71278	\N	\N	"" []	Orphanet:71278	"" []	77729	\N	\N	EFO	0	EFO	Congenital brain dysgenesis due to glutamine synthetase deficiency	Congenital brain dysgenesis due to glutamine synthetase deficiency
Orphanet:289841	Orphanet:71278	\N	"" []	Orphanet:71278	"" []	221921	\N	\N	EFO	1	EFO	Disorder of glutamine metabolism	Congenital brain dysgenesis due to glutamine synthetase deficiency
Orphanet:68385	Orphanet:71278	\N	"" []	Orphanet:71278	"" []	221922	\N	\N	EFO	1	EFO	Neurometabolic disease	Congenital brain dysgenesis due to glutamine synthetase deficiency
Orphanet:79062	Orphanet:289841	\N	"" []	Orphanet:71278	"" []	577921	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Congenital brain dysgenesis due to glutamine synthetase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:71278	"" []	577922	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Congenital brain dysgenesis due to glutamine synthetase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:71278	"" []	1161356	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Congenital brain dysgenesis due to glutamine synthetase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71278	"" []	1161357	\N	\N	EFO	3	EFO	genetic disorder	Congenital brain dysgenesis due to glutamine synthetase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71278	"" []	2044835	\N	\N	EFO	4	EFO	genetic disorder	Congenital brain dysgenesis due to glutamine synthetase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:71278	"" []	2044836	\N	\N	EFO	4	EFO	metabolic disease	Congenital brain dysgenesis due to glutamine synthetase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71278	"" []	3194941	\N	\N	EFO	5	EFO	disease	Congenital brain dysgenesis due to glutamine synthetase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71278	"" []	3194942	\N	\N	EFO	5	EFO	disease	Congenital brain dysgenesis due to glutamine synthetase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71278	"" []	4134273	\N	\N	EFO	6	EFO	disposition	Congenital brain dysgenesis due to glutamine synthetase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71278	"" []	5183201	\N	\N	EFO	7	EFO	material property	Congenital brain dysgenesis due to glutamine synthetase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71278	"" []	5998536	\N	\N	EFO	8	EFO	experimental factor	Congenital brain dysgenesis due to glutamine synthetase deficiency
Orphanet:71289	\N	\N	"" []	Orphanet:71289	"" []	77730	\N	\N	EFO	0	EFO	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:275729	Orphanet:71289	\N	"" []	Orphanet:71289	"" []	221923	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:93459	Orphanet:71289	\N	"" []	Orphanet:71289	"" []	221924	\N	\N	EFO	1	EFO	Syndrome with synostosis or other joint formation defect	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:71289	"" []	577923	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:404571	Orphanet:93459	\N	"" []	Orphanet:71289	"" []	577924	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:404577	Orphanet:93459	\N	"" []	Orphanet:71289	"" []	577925	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:71289	"" []	1161358	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:71289	"" []	1161359	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:71289	"" []	1161360	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:71289	"" []	2044838	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:71289	"" []	2044839	\N	\N	EFO	4	EFO	Rare genetic bone disease	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:71289	"" []	2044840	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:71289	"" []	2044841	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71289	"" []	3194944	\N	\N	EFO	5	EFO	genetic disorder	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:71289	"" []	3194945	\N	\N	EFO	5	EFO	hematological system disease	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71289	"" []	3194946	\N	\N	EFO	5	EFO	genetic disorder	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:71289	"" []	3194947	\N	\N	EFO	5	EFO	bone disease	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:71289	"" []	3194948	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71289	"" []	4400914	\N	\N	EFO	6	EFO	genetic disorder	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71289	"" []	5183202	\N	\N	EFO	7	EFO	disease	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71289	"" []	4400912	\N	\N	EFO	6	EFO	disease	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:71289	"" []	4400913	\N	\N	EFO	6	EFO	skeletal system disease	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71289	"" []	5998537	\N	\N	EFO	8	EFO	disposition	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71289	"" []	5417431	\N	\N	EFO	7	EFO	disease	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71289	"" []	6551641	\N	\N	EFO	9	EFO	material property	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71289	"" []	6889505	\N	\N	EFO	10	EFO	experimental factor	Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Orphanet:71290	\N	\N	"" []	Orphanet:71290	"" []	77731	\N	\N	EFO	0	EFO	Familial platelet syndrome with predisposition to acute myelogenous leukemia	Familial platelet syndrome with predisposition to acute myelogenous leukemia
Orphanet:140162	Orphanet:71290	\N	"" []	Orphanet:71290	"" []	221925	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Familial platelet syndrome with predisposition to acute myelogenous leukemia
Orphanet:98456	Orphanet:71290	\N	"" []	Orphanet:71290	"" []	221926	\N	\N	EFO	1	EFO	Dense granule disease	Familial platelet syndrome with predisposition to acute myelogenous leukemia
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71290	"" []	577926	\N	\N	EFO	2	EFO	genetic disorder	Familial platelet syndrome with predisposition to acute myelogenous leukemia
Orphanet:98454	Orphanet:98456	\N	"" []	Orphanet:71290	"" []	577927	\N	\N	EFO	2	EFO	Platelet storage pool disease	Familial platelet syndrome with predisposition to acute myelogenous leukemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71290	"" []	6152460	\N	\N	EFO	8	EFO	disease	Familial platelet syndrome with predisposition to acute myelogenous leukemia
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:71290	"" []	1161362	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Familial platelet syndrome with predisposition to acute myelogenous leukemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71290	"" []	6370830	\N	\N	EFO	9	EFO	disposition	Familial platelet syndrome with predisposition to acute myelogenous leukemia
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:71290	"" []	2044843	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Familial platelet syndrome with predisposition to acute myelogenous leukemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71290	"" []	6762396	\N	\N	EFO	10	EFO	material property	Familial platelet syndrome with predisposition to acute myelogenous leukemia
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:71290	"" []	3194951	\N	\N	EFO	5	EFO	Rare genetic coagulation disorder	Familial platelet syndrome with predisposition to acute myelogenous leukemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71290	"" []	7015709	\N	\N	EFO	11	EFO	experimental factor	Familial platelet syndrome with predisposition to acute myelogenous leukemia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:71290	"" []	4400916	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Familial platelet syndrome with predisposition to acute myelogenous leukemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71290	"" []	5417432	\N	\N	EFO	7	EFO	genetic disorder	Familial platelet syndrome with predisposition to acute myelogenous leukemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:71290	"" []	5417433	\N	\N	EFO	7	EFO	hematological system disease	Familial platelet syndrome with predisposition to acute myelogenous leukemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71290	"" []	6152461	\N	\N	EFO	8	EFO	disease	Familial platelet syndrome with predisposition to acute myelogenous leukemia
Orphanet:71291	\N	\N	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	77732	\N	\N	EFO	0	EFO	Hereditary vascular retinopathy	Hereditary vascular retinopathy
Orphanet:247691	Orphanet:71291	\N	"Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	221927	\N	\N	EFO	1	EFO	Retinal vasculopathy and cerebral leukodystrophy	Hereditary vascular retinopathy
Orphanet:183503	Orphanet:247691	\N	"" []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	577928	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Hereditary vascular retinopathy
Orphanet:71862	Orphanet:247691	\N	"" []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	577929	\N	\N	EFO	2	EFO	Retinal dystrophy	Hereditary vascular retinopathy
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	1161363	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary vascular retinopathy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	1161364	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Hereditary vascular retinopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	2044844	\N	\N	EFO	4	EFO	genetic disorder	Hereditary vascular retinopathy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	2044845	\N	\N	EFO	4	EFO	Rare genetic eye disease	Hereditary vascular retinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	4400918	\N	\N	EFO	6	EFO	disease	Hereditary vascular retinopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	3194953	\N	\N	EFO	5	EFO	genetic disorder	Hereditary vascular retinopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	3194954	\N	\N	EFO	5	EFO	eye disease	Hereditary vascular retinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	5183203	\N	\N	EFO	7	EFO	disposition	Hereditary vascular retinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	4400919	\N	\N	EFO	6	EFO	disease	Hereditary vascular retinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	5998538	\N	\N	EFO	8	EFO	material property	Hereditary vascular retinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71291	"Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms." []	6551642	\N	\N	EFO	9	EFO	experimental factor	Hereditary vascular retinopathy
Orphanet:713	\N	\N	"" []	Orphanet:713	"" []	77733	\N	\N	EFO	0	EFO	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:182076	Orphanet:713	\N	"" []	Orphanet:713	"" []	221928	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:206959	Orphanet:713	\N	"" []	Orphanet:713	"" []	221929	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:79201	Orphanet:713	\N	"" []	Orphanet:713	"" []	221930	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:98372	Orphanet:713	\N	"" []	Orphanet:713	"" []	221931	\N	\N	EFO	1	EFO	Hemolytic anemia due to a disorder of glycolytic enzymes	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:713	"" []	577930	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:713	"" []	577931	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:713	"" []	577932	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:98369	Orphanet:98372	\N	"" []	Orphanet:713	"" []	577933	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:713	"" []	1161365	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:713	"" []	1161366	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:713	"" []	1161367	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:713	"" []	1161368	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:713	"" []	2044846	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:713	"" []	2044847	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:713	"" []	2044848	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:713	"" []	2044849	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:713	"" []	2044850	\N	\N	EFO	4	EFO	Rare constitutional anemia	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:713	"" []	3194955	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:713	"" []	3194956	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:713	"" []	5998539	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:713	"" []	3194958	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:713	"" []	3194959	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:713	"" []	5417437	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:713	"" []	4400921	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:713	"" []	4400922	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:713	"" []	6410313	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:713	"" []	4400924	\N	\N	EFO	6	EFO	genetic disorder	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:713	"" []	4400925	\N	\N	EFO	6	EFO	hematological system disease	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:713	"" []	5417436	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:713	"" []	6808135	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:713	"" []	5417439	\N	\N	EFO	7	EFO	disease	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:713	"" []	6152463	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:713	"" []	7048787	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Orphanet:714	\N	\N	"" []	Orphanet:714	"" []	77734	\N	\N	EFO	0	EFO	Hemolytic anemia due to diphosphoglycerate mutase deficiency	Hemolytic anemia due to diphosphoglycerate mutase deficiency
Orphanet:91088	Orphanet:714	\N	"" []	Orphanet:714	"" []	221932	\N	\N	EFO	1	EFO	Other metabolic disease	Hemolytic anemia due to diphosphoglycerate mutase deficiency
Orphanet:98372	Orphanet:714	\N	"" []	Orphanet:714	"" []	221933	\N	\N	EFO	1	EFO	Hemolytic anemia due to a disorder of glycolytic enzymes	Hemolytic anemia due to diphosphoglycerate mutase deficiency
Orphanet:68367	Orphanet:91088	\N	"" []	Orphanet:714	"" []	577934	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Hemolytic anemia due to diphosphoglycerate mutase deficiency
Orphanet:98369	Orphanet:98372	\N	"" []	Orphanet:714	"" []	577935	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Hemolytic anemia due to diphosphoglycerate mutase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:714	"" []	1161369	\N	\N	EFO	3	EFO	genetic disorder	Hemolytic anemia due to diphosphoglycerate mutase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:714	"" []	1161370	\N	\N	EFO	3	EFO	metabolic disease	Hemolytic anemia due to diphosphoglycerate mutase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:714	"" []	1161371	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Hemolytic anemia due to diphosphoglycerate mutase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:714	"" []	5417441	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to diphosphoglycerate mutase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:714	"" []	2044852	\N	\N	EFO	4	EFO	disease	Hemolytic anemia due to diphosphoglycerate mutase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:714	"" []	2044853	\N	\N	EFO	4	EFO	Rare constitutional anemia	Hemolytic anemia due to diphosphoglycerate mutase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:714	"" []	5817833	\N	\N	EFO	8	EFO	disposition	Hemolytic anemia due to diphosphoglycerate mutase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:714	"" []	3194961	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Hemolytic anemia due to diphosphoglycerate mutase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:714	"" []	6410314	\N	\N	EFO	9	EFO	material property	Hemolytic anemia due to diphosphoglycerate mutase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:714	"" []	4400927	\N	\N	EFO	6	EFO	genetic disorder	Hemolytic anemia due to diphosphoglycerate mutase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:714	"" []	4400928	\N	\N	EFO	6	EFO	hematological system disease	Hemolytic anemia due to diphosphoglycerate mutase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:714	"" []	6808136	\N	\N	EFO	10	EFO	experimental factor	Hemolytic anemia due to diphosphoglycerate mutase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:714	"" []	5417442	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to diphosphoglycerate mutase deficiency
Orphanet:71493	\N	\N	"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." []	Orphanet:71493	"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." []	77735	\N	\N	EFO	0	EFO	Familial thrombocytosis	Familial thrombocytosis
Orphanet:248401	Orphanet:71493	\N	"" []	Orphanet:71493	"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." []	221934	\N	\N	EFO	1	EFO	Rare thrombotic disorder due to a constitutional platelet anomaly	Familial thrombocytosis
Orphanet:183654	Orphanet:248401	\N	"" []	Orphanet:71493	"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." []	577936	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Familial thrombocytosis
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:71493	"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." []	1161372	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Familial thrombocytosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71493	"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." []	2044854	\N	\N	EFO	4	EFO	genetic disorder	Familial thrombocytosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:71493	"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." []	2044855	\N	\N	EFO	4	EFO	hematological system disease	Familial thrombocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71493	"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." []	3194962	\N	\N	EFO	5	EFO	disease	Familial thrombocytosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71493	"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." []	3194963	\N	\N	EFO	5	EFO	disease	Familial thrombocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71493	"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." []	4400929	\N	\N	EFO	6	EFO	disposition	Familial thrombocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71493	"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." []	5417443	\N	\N	EFO	7	EFO	material property	Familial thrombocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71493	"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." []	6152465	\N	\N	EFO	8	EFO	experimental factor	Familial thrombocytosis
Orphanet:715	\N	\N	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	77736	\N	\N	EFO	0	EFO	Glycogen storage disease due to muscle phosphorylase kinase deficiency	Glycogen storage disease due to muscle phosphorylase kinase deficiency
Orphanet:206959	Orphanet:715	\N	"" []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	221935	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to muscle phosphorylase kinase deficiency
Orphanet:370	Orphanet:715	\N	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	221936	\N	\N	EFO	1	EFO	Glycogen storage disease due to phosphorylase kinase deficiency	Glycogen storage disease due to muscle phosphorylase kinase deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	577937	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to muscle phosphorylase kinase deficiency
Orphanet:79201	Orphanet:370	\N	"" []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	577938	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to muscle phosphorylase kinase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	1161373	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to muscle phosphorylase kinase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	1161374	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to muscle phosphorylase kinase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	2044856	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to muscle phosphorylase kinase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	2044857	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to muscle phosphorylase kinase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	3194964	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to muscle phosphorylase kinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	3194965	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to muscle phosphorylase kinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	3194966	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to muscle phosphorylase kinase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	4400930	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to muscle phosphorylase kinase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	4400931	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to muscle phosphorylase kinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	6152467	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to muscle phosphorylase kinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	4400933	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to muscle phosphorylase kinase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	5417444	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to muscle phosphorylase kinase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	5417445	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to muscle phosphorylase kinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	6470880	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to muscle phosphorylase kinase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	6152466	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to muscle phosphorylase kinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	6848754	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to muscle phosphorylase kinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:715	"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." []	7068523	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to muscle phosphorylase kinase deficiency
Orphanet:71517	\N	\N	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	77737	\N	\N	EFO	0	EFO	Rapid-onset dystonia-parkinsonism	Rapid-onset dystonia-parkinsonism
Orphanet:307052	Orphanet:71517	\N	"" []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	221937	\N	\N	EFO	1	EFO	Rare genetic parkinsonian disorder	Rapid-onset dystonia-parkinsonism
Orphanet:391711	Orphanet:71517	\N	"" []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	221938	\N	\N	EFO	1	EFO	Persistent combined dystonia	Rapid-onset dystonia-parkinsonism
Orphanet:183521	Orphanet:307052	\N	"" []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	577939	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Rapid-onset dystonia-parkinsonism
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	577940	\N	\N	EFO	2	EFO	Combined dystonia	Rapid-onset dystonia-parkinsonism
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	3194969	\N	\N	EFO	5	EFO	movement disorder	Rapid-onset dystonia-parkinsonism
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	3194970	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Rapid-onset dystonia-parkinsonism
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	1161377	\N	\N	EFO	3	EFO	Rare genetic dystonia	Rapid-onset dystonia-parkinsonism
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	4066979	\N	\N	EFO	6	EFO	nervous system disease	Rapid-onset dystonia-parkinsonism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	4066980	\N	\N	EFO	6	EFO	genetic disorder	Rapid-onset dystonia-parkinsonism
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	2044860	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Rapid-onset dystonia-parkinsonism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	5060208	\N	\N	EFO	7	EFO	disease	Rapid-onset dystonia-parkinsonism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	5060209	\N	\N	EFO	7	EFO	disease	Rapid-onset dystonia-parkinsonism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	5877649	\N	\N	EFO	8	EFO	disposition	Rapid-onset dystonia-parkinsonism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	6470881	\N	\N	EFO	9	EFO	material property	Rapid-onset dystonia-parkinsonism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71517	"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." []	6848755	\N	\N	EFO	10	EFO	experimental factor	Rapid-onset dystonia-parkinsonism
Orphanet:71518	\N	\N	"" []	Orphanet:71518	"" []	77738	\N	\N	EFO	0	EFO	Benign paroxysmal torticollis of infancy	Benign paroxysmal torticollis of infancy
Orphanet:200037	Orphanet:71518	\N	"" []	Orphanet:71518	"" []	221939	\N	\N	EFO	1	EFO	Paroxysmal dystonia	Benign paroxysmal torticollis of infancy
Orphanet:306768	Orphanet:200037	\N	"" []	Orphanet:71518	"" []	577941	\N	\N	EFO	2	EFO	Rare paroxysmal movement disorder	Benign paroxysmal torticollis of infancy
Orphanet:98203	Orphanet:200037	\N	"" []	Orphanet:71518	"" []	577942	\N	\N	EFO	2	EFO	Combined dystonia	Benign paroxysmal torticollis of infancy
Orphanet:183521	Orphanet:306768	\N	"" []	Orphanet:71518	"" []	1161378	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Benign paroxysmal torticollis of infancy
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:71518	"" []	1161379	\N	\N	EFO	3	EFO	Rare genetic dystonia	Benign paroxysmal torticollis of infancy
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:71518	"" []	3194973	\N	\N	EFO	5	EFO	movement disorder	Benign paroxysmal torticollis of infancy
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:71518	"" []	3194974	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Benign paroxysmal torticollis of infancy
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:71518	"" []	2044863	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Benign paroxysmal torticollis of infancy
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:71518	"" []	4134274	\N	\N	EFO	6	EFO	nervous system disease	Benign paroxysmal torticollis of infancy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71518	"" []	4134275	\N	\N	EFO	6	EFO	genetic disorder	Benign paroxysmal torticollis of infancy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71518	"" []	5183204	\N	\N	EFO	7	EFO	disease	Benign paroxysmal torticollis of infancy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71518	"" []	5183205	\N	\N	EFO	7	EFO	disease	Benign paroxysmal torticollis of infancy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71518	"" []	5998540	\N	\N	EFO	8	EFO	disposition	Benign paroxysmal torticollis of infancy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71518	"" []	6551643	\N	\N	EFO	9	EFO	material property	Benign paroxysmal torticollis of infancy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71518	"" []	6889506	\N	\N	EFO	10	EFO	experimental factor	Benign paroxysmal torticollis of infancy
Orphanet:71526	\N	\N	"" []	Orphanet:71526	"" []	77739	\N	\N	EFO	0	EFO	Obesity due to pro-opiomelanocortin deficiency	Obesity due to pro-opiomelanocortin deficiency
Orphanet:179490	Orphanet:71526	\N	"" []	Orphanet:71526	"" []	221940	\N	\N	EFO	1	EFO	Obesity due to congenital leptin resistance	Obesity due to pro-opiomelanocortin deficiency
Orphanet:98267	Orphanet:179490	\N	"" []	Orphanet:71526	"" []	577943	\N	\N	EFO	2	EFO	Genetic non-syndromic obesity	Obesity due to pro-opiomelanocortin deficiency
Orphanet:77828	Orphanet:98267	\N	"" []	Orphanet:71526	"" []	1161380	\N	\N	EFO	3	EFO	Genetic obesity	Obesity due to pro-opiomelanocortin deficiency
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:71526	"" []	2044864	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Obesity due to pro-opiomelanocortin deficiency
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:71526	"" []	2044865	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Obesity due to pro-opiomelanocortin deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71526	"" []	3194975	\N	\N	EFO	5	EFO	genetic disorder	Obesity due to pro-opiomelanocortin deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:71526	"" []	3194976	\N	\N	EFO	5	EFO	endocrine system disease	Obesity due to pro-opiomelanocortin deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:71526	"" []	3194977	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Obesity due to pro-opiomelanocortin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71526	"" []	5417450	\N	\N	EFO	7	EFO	disease	Obesity due to pro-opiomelanocortin deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71526	"" []	4400938	\N	\N	EFO	6	EFO	disease	Obesity due to pro-opiomelanocortin deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71526	"" []	4400939	\N	\N	EFO	6	EFO	genetic disorder	Obesity due to pro-opiomelanocortin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71526	"" []	5998541	\N	\N	EFO	8	EFO	disposition	Obesity due to pro-opiomelanocortin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71526	"" []	6551644	\N	\N	EFO	9	EFO	material property	Obesity due to pro-opiomelanocortin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71526	"" []	6889507	\N	\N	EFO	10	EFO	experimental factor	Obesity due to pro-opiomelanocortin deficiency
Orphanet:71528	\N	\N	"" []	Orphanet:71528	"" []	77740	\N	\N	EFO	0	EFO	Obesity due to prohormone convertase I deficiency	Obesity due to prohormone convertase I deficiency
Orphanet:179490	Orphanet:71528	\N	"" []	Orphanet:71528	"" []	221941	\N	\N	EFO	1	EFO	Obesity due to congenital leptin resistance	Obesity due to prohormone convertase I deficiency
Orphanet:181390	Orphanet:71528	\N	"" []	Orphanet:71528	"" []	221942	\N	\N	EFO	1	EFO	Hypogonadotropic hypogonadism associated with other endocrinopathies	Obesity due to prohormone convertase I deficiency
Orphanet:98267	Orphanet:179490	\N	"" []	Orphanet:71528	"" []	577944	\N	\N	EFO	2	EFO	Genetic non-syndromic obesity	Obesity due to prohormone convertase I deficiency
Orphanet:174590	Orphanet:181390	\N	"" []	Orphanet:71528	"" []	577945	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Obesity due to prohormone convertase I deficiency
Orphanet:399839	Orphanet:181390	\N	"" []	Orphanet:71528	"" []	577946	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Obesity due to prohormone convertase I deficiency
Orphanet:77828	Orphanet:98267	\N	"" []	Orphanet:71528	"" []	1161381	\N	\N	EFO	3	EFO	Genetic obesity	Obesity due to prohormone convertase I deficiency
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:71528	"" []	1161382	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Obesity due to prohormone convertase I deficiency
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:71528	"" []	1161383	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Obesity due to prohormone convertase I deficiency
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:71528	"" []	1161384	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Obesity due to prohormone convertase I deficiency
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:71528	"" []	1161385	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Obesity due to prohormone convertase I deficiency
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:71528	"" []	2044866	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Obesity due to prohormone convertase I deficiency
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:71528	"" []	2044867	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Obesity due to prohormone convertase I deficiency
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:71528	"" []	2044868	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Obesity due to prohormone convertase I deficiency
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:71528	"" []	2044869	\N	\N	EFO	4	EFO	Rare genetic male infertility	Obesity due to prohormone convertase I deficiency
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:71528	"" []	2044870	\N	\N	EFO	4	EFO	Pituitary deficiency	Obesity due to prohormone convertase I deficiency
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:71528	"" []	2044871	\N	\N	EFO	4	EFO	Rare genetic female infertility	Obesity due to prohormone convertase I deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71528	"" []	5417454	\N	\N	EFO	7	EFO	genetic disorder	Obesity due to prohormone convertase I deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:71528	"" []	5417455	\N	\N	EFO	7	EFO	endocrine system disease	Obesity due to prohormone convertase I deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:71528	"" []	3194980	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Obesity due to prohormone convertase I deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71528	"" []	3194981	\N	\N	EFO	5	EFO	genetic disorder	Obesity due to prohormone convertase I deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:71528	"" []	3194982	\N	\N	EFO	5	EFO	reproductive system disease	Obesity due to prohormone convertase I deficiency
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:71528	"" []	3194983	\N	\N	EFO	5	EFO	Genetic infertility	Obesity due to prohormone convertase I deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:71528	"" []	3194984	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Obesity due to prohormone convertase I deficiency
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:71528	"" []	3194985	\N	\N	EFO	5	EFO	Genetic infertility	Obesity due to prohormone convertase I deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71528	"" []	5877650	\N	\N	EFO	8	EFO	disease	Obesity due to prohormone convertase I deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71528	"" []	5877651	\N	\N	EFO	8	EFO	disease	Obesity due to prohormone convertase I deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71528	"" []	4400942	\N	\N	EFO	6	EFO	genetic disorder	Obesity due to prohormone convertase I deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71528	"" []	5417453	\N	\N	EFO	7	EFO	disease	Obesity due to prohormone convertase I deficiency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71528	"" []	4400944	\N	\N	EFO	6	EFO	genetic disorder	Obesity due to prohormone convertase I deficiency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:71528	"" []	4400945	\N	\N	EFO	6	EFO	reproductive system disease	Obesity due to prohormone convertase I deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:71528	"" []	4400946	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Obesity due to prohormone convertase I deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71528	"" []	6470882	\N	\N	EFO	9	EFO	disposition	Obesity due to prohormone convertase I deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71528	"" []	6848756	\N	\N	EFO	10	EFO	material property	Obesity due to prohormone convertase I deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71528	"" []	7068524	\N	\N	EFO	11	EFO	experimental factor	Obesity due to prohormone convertase I deficiency
Orphanet:71529	\N	\N	"" []	Orphanet:71529	"" []	77741	\N	\N	EFO	0	EFO	Obesity due to melanocortin 4 receptor deficiency	Obesity due to melanocortin 4 receptor deficiency
Orphanet:179490	Orphanet:71529	\N	"" []	Orphanet:71529	"" []	221943	\N	\N	EFO	1	EFO	Obesity due to congenital leptin resistance	Obesity due to melanocortin 4 receptor deficiency
Orphanet:98267	Orphanet:179490	\N	"" []	Orphanet:71529	"" []	577947	\N	\N	EFO	2	EFO	Genetic non-syndromic obesity	Obesity due to melanocortin 4 receptor deficiency
Orphanet:77828	Orphanet:98267	\N	"" []	Orphanet:71529	"" []	1161386	\N	\N	EFO	3	EFO	Genetic obesity	Obesity due to melanocortin 4 receptor deficiency
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:71529	"" []	2044872	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Obesity due to melanocortin 4 receptor deficiency
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:71529	"" []	2044873	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Obesity due to melanocortin 4 receptor deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71529	"" []	3194986	\N	\N	EFO	5	EFO	genetic disorder	Obesity due to melanocortin 4 receptor deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:71529	"" []	3194987	\N	\N	EFO	5	EFO	endocrine system disease	Obesity due to melanocortin 4 receptor deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:71529	"" []	3194988	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Obesity due to melanocortin 4 receptor deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71529	"" []	5417457	\N	\N	EFO	7	EFO	disease	Obesity due to melanocortin 4 receptor deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71529	"" []	4400948	\N	\N	EFO	6	EFO	disease	Obesity due to melanocortin 4 receptor deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71529	"" []	4400949	\N	\N	EFO	6	EFO	genetic disorder	Obesity due to melanocortin 4 receptor deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71529	"" []	5998543	\N	\N	EFO	8	EFO	disposition	Obesity due to melanocortin 4 receptor deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71529	"" []	6551646	\N	\N	EFO	9	EFO	material property	Obesity due to melanocortin 4 receptor deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71529	"" []	6889509	\N	\N	EFO	10	EFO	experimental factor	Obesity due to melanocortin 4 receptor deficiency
Orphanet:716	\N	\N	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	77742	\N	\N	EFO	0	EFO	Phenylketonuria	Phenylketonuria
Orphanet:284814	Orphanet:716	\N	"" []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	221944	\N	\N	EFO	1	EFO	Disorder of phenylalanine metabolism	Phenylketonuria
Orphanet:68385	Orphanet:716	\N	"" []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	221945	\N	\N	EFO	1	EFO	Neurometabolic disease	Phenylketonuria
Orphanet:79190	Orphanet:284814	\N	"" []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	577948	\N	\N	EFO	2	EFO	Disorder of phenylalanin or tyrosine metabolism	Phenylketonuria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	577949	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Phenylketonuria
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	1161387	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Phenylketonuria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	1161388	\N	\N	EFO	3	EFO	genetic disorder	Phenylketonuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	2044874	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Phenylketonuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	4400950	\N	\N	EFO	6	EFO	disease	Phenylketonuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	3194989	\N	\N	EFO	5	EFO	genetic disorder	Phenylketonuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	3194990	\N	\N	EFO	5	EFO	metabolic disease	Phenylketonuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	5060210	\N	\N	EFO	7	EFO	disposition	Phenylketonuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	4400951	\N	\N	EFO	6	EFO	disease	Phenylketonuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	5877652	\N	\N	EFO	8	EFO	material property	Phenylketonuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:716	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	6470883	\N	\N	EFO	9	EFO	experimental factor	Phenylketonuria
Orphanet:718	\N	\N	"" []	Orphanet:718	"" []	77743	\N	\N	EFO	0	EFO	Isolated Pierre Robin syndrome	Isolated Pierre Robin syndrome
Orphanet:108987	Orphanet:718	\N	"" []	Orphanet:718	"" []	221946	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Isolated Pierre Robin syndrome
Orphanet:156237	Orphanet:718	\N	"" []	Orphanet:718	"" []	221947	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Isolated Pierre Robin syndrome
Orphanet:98638	Orphanet:718	\N	"" []	Orphanet:718	"" []	221948	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Isolated Pierre Robin syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:718	"" []	577950	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Isolated Pierre Robin syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:718	"" []	577951	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Isolated Pierre Robin syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:718	"" []	577952	\N	\N	EFO	2	EFO	Rare genetic eye disease	Isolated Pierre Robin syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:718	"" []	1161389	\N	\N	EFO	3	EFO	Rare genetic eye disease	Isolated Pierre Robin syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:718	"" []	1161390	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Isolated Pierre Robin syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:718	"" []	1161391	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Isolated Pierre Robin syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:718	"" []	2044876	\N	\N	EFO	4	EFO	genetic disorder	Isolated Pierre Robin syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:718	"" []	2044877	\N	\N	EFO	4	EFO	eye disease	Isolated Pierre Robin syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:718	"" []	3194992	\N	\N	EFO	5	EFO	genetic disorder	Isolated Pierre Robin syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:718	"" []	2044879	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated Pierre Robin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:718	"" []	4134276	\N	\N	EFO	6	EFO	disease	Isolated Pierre Robin syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:718	"" []	3000428	\N	\N	EFO	5	EFO	disease	Isolated Pierre Robin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:718	"" []	5060211	\N	\N	EFO	7	EFO	disposition	Isolated Pierre Robin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:718	"" []	5877653	\N	\N	EFO	8	EFO	material property	Isolated Pierre Robin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:718	"" []	6470884	\N	\N	EFO	9	EFO	experimental factor	Isolated Pierre Robin syndrome
Orphanet:71859	\N	\N	"" []	Orphanet:71859	"" []	77744	\N	\N	EFO	0	EFO	Rare genetic neurological disorder	Rare genetic neurological disorder
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71859	"" []	221949	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic neurological disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71859	"" []	577953	\N	\N	EFO	2	EFO	disease	Rare genetic neurological disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71859	"" []	1161394	\N	\N	EFO	3	EFO	disposition	Rare genetic neurological disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71859	"" []	2044882	\N	\N	EFO	4	EFO	material property	Rare genetic neurological disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71859	"" []	3194994	\N	\N	EFO	5	EFO	experimental factor	Rare genetic neurological disorder
Orphanet:71862	\N	\N	"" []	Orphanet:71862	"" []	77745	\N	\N	EFO	0	EFO	Retinal dystrophy	Retinal dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:71862	"" []	221950	\N	\N	EFO	1	EFO	Genetic vitreous-retinal disease	Retinal dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:71862	"" []	577954	\N	\N	EFO	2	EFO	Rare genetic eye disease	Retinal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:71862	"" []	1161395	\N	\N	EFO	3	EFO	genetic disorder	Retinal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:71862	"" []	1161396	\N	\N	EFO	3	EFO	eye disease	Retinal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71862	"" []	2044883	\N	\N	EFO	4	EFO	disease	Retinal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:71862	"" []	2044884	\N	\N	EFO	4	EFO	disease	Retinal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:71862	"" []	3194995	\N	\N	EFO	5	EFO	disposition	Retinal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:71862	"" []	4400954	\N	\N	EFO	6	EFO	material property	Retinal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:71862	"" []	5417460	\N	\N	EFO	7	EFO	experimental factor	Retinal dystrophy
Orphanet:72	\N	\N	"Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." []	Orphanet:72	"Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." []	77746	\N	\N	EFO	0	EFO	Angelman syndrome	Angelman syndrome
Orphanet:183763	Orphanet:72	\N	"" []	Orphanet:72	"Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." []	221951	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Angelman syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:72	"Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." []	577955	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Angelman syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:72	"Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." []	1161397	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Angelman syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:72	"Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." []	2044885	\N	\N	EFO	4	EFO	genetic disorder	Angelman syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:72	"Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." []	3194996	\N	\N	EFO	5	EFO	disease	Angelman syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:72	"Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." []	4400955	\N	\N	EFO	6	EFO	disposition	Angelman syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:72	"Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." []	5417461	\N	\N	EFO	7	EFO	material property	Angelman syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:72	"Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." []	6152474	\N	\N	EFO	8	EFO	experimental factor	Angelman syndrome
Orphanet:720	\N	\N	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	Orphanet:720	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	77747	\N	\N	EFO	0	EFO	Pili bifurcati	Pili bifurcati
Orphanet:79366	Orphanet:720	\N	"" []	Orphanet:720	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	221952	\N	\N	EFO	1	EFO	Isolated hair shaft abnormality	Pili bifurcati
Orphanet:183450	Orphanet:79366	\N	"" []	Orphanet:720	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	577956	\N	\N	EFO	2	EFO	Genetic hair anomaly	Pili bifurcati
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:720	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	1161398	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Pili bifurcati
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:720	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	2044886	\N	\N	EFO	4	EFO	Rare genetic skin disease	Pili bifurcati
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:720	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	3194997	\N	\N	EFO	5	EFO	genetic disorder	Pili bifurcati
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:720	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	3194998	\N	\N	EFO	5	EFO	skin disease	Pili bifurcati
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:720	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	4400956	\N	\N	EFO	6	EFO	disease	Pili bifurcati
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:720	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	4400957	\N	\N	EFO	6	EFO	disease	Pili bifurcati
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:720	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	5417462	\N	\N	EFO	7	EFO	disposition	Pili bifurcati
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:720	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	6152475	\N	\N	EFO	8	EFO	material property	Pili bifurcati
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:720	"Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." []	6634075	\N	\N	EFO	9	EFO	experimental factor	Pili bifurcati
Orphanet:721	\N	\N	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	77748	\N	\N	EFO	0	EFO	Gray platelet syndrome	Gray platelet syndrome
Orphanet:98455	Orphanet:721	\N	"" []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	221953	\N	\N	EFO	1	EFO	Alpha granule disease	Gray platelet syndrome
Orphanet:98454	Orphanet:98455	\N	"" []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	577957	\N	\N	EFO	2	EFO	Platelet storage pool disease	Gray platelet syndrome
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	1161399	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Gray platelet syndrome
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	2044887	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Gray platelet syndrome
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	3194999	\N	\N	EFO	5	EFO	Rare genetic coagulation disorder	Gray platelet syndrome
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	4400958	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Gray platelet syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	5417463	\N	\N	EFO	7	EFO	genetic disorder	Gray platelet syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	5417464	\N	\N	EFO	7	EFO	hematological system disease	Gray platelet syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	6152476	\N	\N	EFO	8	EFO	disease	Gray platelet syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	6152477	\N	\N	EFO	8	EFO	disease	Gray platelet syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	6634076	\N	\N	EFO	9	EFO	disposition	Gray platelet syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	6926236	\N	\N	EFO	10	EFO	material property	Gray platelet syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:721	"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." []	7099311	\N	\N	EFO	11	EFO	experimental factor	Gray platelet syndrome
Orphanet:722	\N	\N	"" []	Orphanet:722	"" []	77749	\N	\N	EFO	0	EFO	Hypoplasminogenemia	Hypoplasminogenemia
Orphanet:271870	Orphanet:722	\N	"" []	Orphanet:722	"" []	221954	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	Hypoplasminogenemia
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:722	"" []	577958	\N	\N	EFO	2	EFO	genetic disorder	Hypoplasminogenemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:722	"" []	1161400	\N	\N	EFO	3	EFO	disease	Hypoplasminogenemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:722	"" []	2044888	\N	\N	EFO	4	EFO	disposition	Hypoplasminogenemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:722	"" []	3195000	\N	\N	EFO	5	EFO	material property	Hypoplasminogenemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:722	"" []	4400959	\N	\N	EFO	6	EFO	experimental factor	Hypoplasminogenemia
Orphanet:725	\N	\N	"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." []	Orphanet:725	"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." []	77750	\N	\N	EFO	0	EFO	Continuous spikes and waves during sleep	Continuous spikes and waves during sleep
Orphanet:98259	Orphanet:725	\N	"" []	Orphanet:725	"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." []	221955	\N	\N	EFO	1	EFO	Childhood-onset epilepsy syndrome	Continuous spikes and waves during sleep
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:725	"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." []	577959	\N	\N	EFO	2	EFO	Epilepsy syndrome	Continuous spikes and waves during sleep
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:725	"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." []	1161401	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Continuous spikes and waves during sleep
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:725	"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." []	2044889	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Continuous spikes and waves during sleep
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:725	"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." []	3195001	\N	\N	EFO	5	EFO	genetic disorder	Continuous spikes and waves during sleep
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:725	"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." []	4400960	\N	\N	EFO	6	EFO	disease	Continuous spikes and waves during sleep
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:725	"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." []	5417465	\N	\N	EFO	7	EFO	disposition	Continuous spikes and waves during sleep
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:725	"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." []	6152478	\N	\N	EFO	8	EFO	material property	Continuous spikes and waves during sleep
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:725	"Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." []	6634077	\N	\N	EFO	9	EFO	experimental factor	Continuous spikes and waves during sleep
Orphanet:726	\N	\N	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	77751	\N	\N	EFO	0	EFO	Alpers syndrome	Alpers syndrome
Orphanet:183500	Orphanet:726	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	221956	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Alpers syndrome
Orphanet:225703	Orphanet:726	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	221957	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	Alpers syndrome
Orphanet:35698	Orphanet:726	\N	"The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	221958	\N	\N	EFO	1	EFO	Mitochondrial DNA depletion syndrome	Alpers syndrome
Orphanet:68385	Orphanet:726	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	221959	\N	\N	EFO	1	EFO	Neurometabolic disease	Alpers syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	577960	\N	\N	EFO	2	EFO	neurodegenerative disease	Alpers syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	577961	\N	\N	EFO	2	EFO	brain disease	Alpers syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	577962	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Alpers syndrome
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	577963	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Alpers syndrome
Orphanet:104013	Orphanet:35698	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	577964	\N	\N	EFO	2	EFO	Metabolic disease with intestinal involvement	Alpers syndrome
Orphanet:206966	Orphanet:35698	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	577965	\N	\N	EFO	2	EFO	Mitochondrial myopathy	Alpers syndrome
Orphanet:352456	Orphanet:35698	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	577966	\N	\N	EFO	2	EFO	Mitochondrial DNA maintenance syndrome	Alpers syndrome
Orphanet:98695	Orphanet:35698	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	577967	\N	\N	EFO	2	EFO	Mitochondrial disease with eye involvement	Alpers syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	577968	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Alpers syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	1161402	\N	\N	EFO	3	EFO	nervous system disease	Alpers syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	1161403	\N	\N	EFO	3	EFO	nervous system disease	Alpers syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	6634079	\N	\N	EFO	9	EFO	genetic disorder	Alpers syndrome
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	1161405	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Alpers syndrome
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	1161406	\N	\N	EFO	3	EFO	Genetic intestinal disease	Alpers syndrome
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	1161407	\N	\N	EFO	3	EFO	Muscular lipidosis	Alpers syndrome
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	1161408	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Alpers syndrome
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	1161409	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Alpers syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	2044890	\N	\N	EFO	4	EFO	disease	Alpers syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	6758575	\N	\N	EFO	10	EFO	disease	Alpers syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	2044892	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Alpers syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	2044893	\N	\N	EFO	4	EFO	digestive system disease	Alpers syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	2044894	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Alpers syndrome
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	2044895	\N	\N	EFO	4	EFO	Metabolic myopathy	Alpers syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	2044896	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Alpers syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	2044897	\N	\N	EFO	4	EFO	Rare genetic eye disease	Alpers syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	7008648	\N	\N	EFO	11	EFO	disposition	Alpers syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	3195003	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Alpers syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	3195004	\N	\N	EFO	5	EFO	disease	Alpers syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	3195005	\N	\N	EFO	5	EFO	genetic disorder	Alpers syndrome
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	3195006	\N	\N	EFO	5	EFO	Non-dystrophic myopathy	Alpers syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	3195007	\N	\N	EFO	5	EFO	Mitochondrial disease	Alpers syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	3195008	\N	\N	EFO	5	EFO	genetic disorder	Alpers syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	3195009	\N	\N	EFO	5	EFO	eye disease	Alpers syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	7167541	\N	\N	EFO	12	EFO	material property	Alpers syndrome
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	4400965	\N	\N	EFO	6	EFO	Genetic skeletal muscle disease	Alpers syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	4400966	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Alpers syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	4400967	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Alpers syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	4400968	\N	\N	EFO	6	EFO	disease	Alpers syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	7272444	\N	\N	EFO	13	EFO	experimental factor	Alpers syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	5417467	\N	\N	EFO	7	EFO	Genetic neuromuscular disease	Alpers syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	5417468	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Alpers syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	5417469	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Alpers syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	6152479	\N	\N	EFO	8	EFO	muscular disease	Alpers syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	6152480	\N	\N	EFO	8	EFO	Rare genetic neurological disorder	Alpers syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	6152481	\N	\N	EFO	8	EFO	genetic disorder	Alpers syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	6152482	\N	\N	EFO	8	EFO	genetic disorder	Alpers syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	6152483	\N	\N	EFO	8	EFO	metabolic disease	Alpers syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	6634078	\N	\N	EFO	9	EFO	skeletal system disease	Alpers syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	6634081	\N	\N	EFO	9	EFO	disease	Alpers syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:726	"A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." []	6926237	\N	\N	EFO	10	EFO	disease	Alpers syndrome
Orphanet:73	\N	\N	"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." []	Orphanet:73	"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." []	77752	\N	\N	EFO	0	EFO	Gorham-Stout disease	Gorham-Stout disease
Orphanet:235832	Orphanet:73	\N	"" []	Orphanet:73	"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." []	221960	\N	\N	EFO	1	EFO	Congenital vascular bone syndrome	Gorham-Stout disease
Orphanet:183524	Orphanet:235832	\N	"" []	Orphanet:73	"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." []	577969	\N	\N	EFO	2	EFO	Rare genetic bone disease	Gorham-Stout disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73	"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." []	1161410	\N	\N	EFO	3	EFO	genetic disorder	Gorham-Stout disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:73	"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." []	1161411	\N	\N	EFO	3	EFO	bone disease	Gorham-Stout disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73	"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." []	2044898	\N	\N	EFO	4	EFO	disease	Gorham-Stout disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:73	"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." []	2044899	\N	\N	EFO	4	EFO	skeletal system disease	Gorham-Stout disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:73	"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." []	4400970	\N	\N	EFO	6	EFO	disposition	Gorham-Stout disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73	"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." []	3195011	\N	\N	EFO	5	EFO	disease	Gorham-Stout disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:73	"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." []	5183208	\N	\N	EFO	7	EFO	material property	Gorham-Stout disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:73	"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." []	5998546	\N	\N	EFO	8	EFO	experimental factor	Gorham-Stout disease
Orphanet:731	\N	\N	"" []	Orphanet:731	"" []	77753	\N	\N	EFO	0	EFO	Autosomal recessive polycystic kidney disease	Autosomal recessive polycystic kidney disease
EFO:0003900	Orphanet:731	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:731	"" []	221961	\N	\N	EFO	1	EFO	ciliopathy	Autosomal recessive polycystic kidney disease
Orphanet:400003	Orphanet:731	\N	"" []	Orphanet:731	"" []	221962	\N	\N	EFO	1	EFO	Rare genetic disorder with obstructive azoospermia	Autosomal recessive polycystic kidney disease
Orphanet:93587	Orphanet:731	\N	"" []	Orphanet:731	"" []	221963	\N	\N	EFO	1	EFO	Familial cystic renal disease	Autosomal recessive polycystic kidney disease
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:731	"" []	577970	\N	\N	EFO	2	EFO	genetic disorder	Autosomal recessive polycystic kidney disease
Orphanet:399998	Orphanet:400003	\N	"" []	Orphanet:731	"" []	577971	\N	\N	EFO	2	EFO	Male infertility due to obstructive azoospermia of genetic origin	Autosomal recessive polycystic kidney disease
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:731	"" []	577972	\N	\N	EFO	2	EFO	kidney disease	Autosomal recessive polycystic kidney disease
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:731	"" []	577973	\N	\N	EFO	2	EFO	Rare genetic renal disease	Autosomal recessive polycystic kidney disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:731	"" []	4400972	\N	\N	EFO	6	EFO	disease	Autosomal recessive polycystic kidney disease
Orphanet:399980	Orphanet:399998	\N	"" []	Orphanet:731	"" []	1161413	\N	\N	EFO	3	EFO	Rare genetic male infertility	Autosomal recessive polycystic kidney disease
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:731	"" []	1161414	\N	\N	EFO	3	EFO	disease	Autosomal recessive polycystic kidney disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:731	"" []	1161415	\N	\N	EFO	3	EFO	genetic disorder	Autosomal recessive polycystic kidney disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:731	"" []	5028477	\N	\N	EFO	7	EFO	disposition	Autosomal recessive polycystic kidney disease
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:731	"" []	2044901	\N	\N	EFO	4	EFO	Genetic infertility	Autosomal recessive polycystic kidney disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:731	"" []	5817835	\N	\N	EFO	8	EFO	material property	Autosomal recessive polycystic kidney disease
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:731	"" []	3195013	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive polycystic kidney disease
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:731	"" []	3195014	\N	\N	EFO	5	EFO	reproductive system disease	Autosomal recessive polycystic kidney disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:731	"" []	6410316	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive polycystic kidney disease
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:731	"" []	4400973	\N	\N	EFO	6	EFO	disease	Autosomal recessive polycystic kidney disease
Orphanet:73217	\N	\N	"" []	Orphanet:73217	"" []	77754	\N	\N	EFO	0	EFO	Mllerian aplasia	Mllerian aplasia
Orphanet:156622	Orphanet:73217	\N	"" []	Orphanet:73217	"" []	221964	\N	\N	EFO	1	EFO	Genetic urogenital tract malformation	Mllerian aplasia
Orphanet:183731	Orphanet:73217	\N	"" []	Orphanet:73217	"" []	221965	\N	\N	EFO	1	EFO	Rare genetic gynecological and obstetrical diseases	Mllerian aplasia
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:73217	"" []	577974	\N	\N	EFO	2	EFO	Rare genetic urogenital disease	Mllerian aplasia
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73217	"" []	577975	\N	\N	EFO	2	EFO	genetic disorder	Mllerian aplasia
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:73217	"" []	577976	\N	\N	EFO	2	EFO	reproductive system disease	Mllerian aplasia
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73217	"" []	1161416	\N	\N	EFO	3	EFO	genetic disorder	Mllerian aplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73217	"" []	2044903	\N	\N	EFO	4	EFO	disease	Mllerian aplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73217	"" []	1161418	\N	\N	EFO	3	EFO	disease	Mllerian aplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:73217	"" []	3000430	\N	\N	EFO	5	EFO	disposition	Mllerian aplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:73217	"" []	4134279	\N	\N	EFO	6	EFO	material property	Mllerian aplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:73217	"" []	5183210	\N	\N	EFO	7	EFO	experimental factor	Mllerian aplasia
Orphanet:73220	\N	\N	"" []	Orphanet:73220	"" []	77755	\N	\N	EFO	0	EFO	X-linked intellectual disability - hypotonic face	X-linked intellectual disability - hypotonic face
Orphanet:263355	Orphanet:73220	\N	"" []	Orphanet:73220	"" []	221966	\N	\N	EFO	1	EFO	ATR-X-related syndrome	X-linked intellectual disability - hypotonic face
Orphanet:102283	Orphanet:263355	\N	"" []	Orphanet:73220	"" []	577977	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability - hypotonic face
Orphanet:98464	Orphanet:263355	\N	"" []	Orphanet:73220	"" []	577978	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - hypotonic face
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:73220	"" []	1161419	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability - hypotonic face
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:73220	"" []	1161420	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - hypotonic face
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:73220	"" []	2044905	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability - hypotonic face
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:73220	"" []	2044906	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked intellectual disability - hypotonic face
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73220	"" []	3195016	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - hypotonic face
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:73220	"" []	3195017	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked intellectual disability - hypotonic face
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73220	"" []	5417472	\N	\N	EFO	7	EFO	disease	X-linked intellectual disability - hypotonic face
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73220	"" []	4400976	\N	\N	EFO	6	EFO	genetic disorder	X-linked intellectual disability - hypotonic face
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:73220	"" []	5998547	\N	\N	EFO	8	EFO	disposition	X-linked intellectual disability - hypotonic face
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:73220	"" []	6551647	\N	\N	EFO	9	EFO	material property	X-linked intellectual disability - hypotonic face
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:73220	"" []	6889510	\N	\N	EFO	10	EFO	experimental factor	X-linked intellectual disability - hypotonic face
Orphanet:73223	\N	\N	"" []	Orphanet:73223	"" []	77756	\N	\N	EFO	0	EFO	Global developmental delay - osteopenia - ectodermal defect	Global developmental delay - osteopenia - ectodermal defect
Orphanet:183763	Orphanet:73223	\N	"" []	Orphanet:73223	"" []	221967	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Global developmental delay - osteopenia - ectodermal defect
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:73223	"" []	577979	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Global developmental delay - osteopenia - ectodermal defect
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:73223	"" []	1161421	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Global developmental delay - osteopenia - ectodermal defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73223	"" []	2044907	\N	\N	EFO	4	EFO	genetic disorder	Global developmental delay - osteopenia - ectodermal defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73223	"" []	3195018	\N	\N	EFO	5	EFO	disease	Global developmental delay - osteopenia - ectodermal defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:73223	"" []	4400977	\N	\N	EFO	6	EFO	disposition	Global developmental delay - osteopenia - ectodermal defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:73223	"" []	5417473	\N	\N	EFO	7	EFO	material property	Global developmental delay - osteopenia - ectodermal defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:73223	"" []	6152485	\N	\N	EFO	8	EFO	experimental factor	Global developmental delay - osteopenia - ectodermal defect
Orphanet:73224	\N	\N	"" []	Orphanet:73224	"" []	77757	\N	\N	EFO	0	EFO	Tubular renal disease - cardiomyopathy	Tubular renal disease - cardiomyopathy
Orphanet:217619	Orphanet:73224	\N	"" []	Orphanet:73224	"" []	221968	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	Tubular renal disease - cardiomyopathy
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:73224	"" []	577980	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Tubular renal disease - cardiomyopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:73224	"" []	1161422	\N	\N	EFO	3	EFO	cardiomyopathy	Tubular renal disease - cardiomyopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:73224	"" []	1161423	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Tubular renal disease - cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:73224	"" []	2044908	\N	\N	EFO	4	EFO	heart disease	Tubular renal disease - cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73224	"" []	2044909	\N	\N	EFO	4	EFO	genetic disorder	Tubular renal disease - cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:73224	"" []	2044910	\N	\N	EFO	4	EFO	heart disease	Tubular renal disease - cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:73224	"" []	3195019	\N	\N	EFO	5	EFO	cardiovascular disease	Tubular renal disease - cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73224	"" []	3195020	\N	\N	EFO	5	EFO	disease	Tubular renal disease - cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73224	"" []	4400978	\N	\N	EFO	6	EFO	disease	Tubular renal disease - cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:73224	"" []	5417474	\N	\N	EFO	7	EFO	disposition	Tubular renal disease - cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:73224	"" []	5998548	\N	\N	EFO	8	EFO	material property	Tubular renal disease - cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:73224	"" []	6551648	\N	\N	EFO	9	EFO	experimental factor	Tubular renal disease - cardiomyopathy
Orphanet:73229	\N	\N	"" []	Orphanet:73229	"" []	77758	\N	\N	EFO	0	EFO	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Orphanet:183503	Orphanet:73229	\N	"" []	Orphanet:73229	"" []	221969	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Orphanet:93550	Orphanet:73229	\N	"" []	Orphanet:73229	"" []	221970	\N	\N	EFO	1	EFO	Basement membrane disease	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:73229	"" []	577981	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Orphanet:183586	Orphanet:93550	\N	"" []	Orphanet:73229	"" []	577982	\N	\N	EFO	2	EFO	Genetic glomerular disease	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73229	"" []	1161424	\N	\N	EFO	3	EFO	genetic disorder	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:73229	"" []	1161425	\N	\N	EFO	3	EFO	Rare genetic renal disease	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73229	"" []	3195022	\N	\N	EFO	5	EFO	disease	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73229	"" []	2044912	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:73229	"" []	4134280	\N	\N	EFO	6	EFO	disposition	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:73229	"" []	5183211	\N	\N	EFO	7	EFO	material property	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:73229	"" []	5998549	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Orphanet:73230	\N	\N	"" []	Orphanet:73230	"" []	77759	\N	\N	EFO	0	EFO	Ossification anomalies - psychomotor development delay	Ossification anomalies - psychomotor development delay
Orphanet:183763	Orphanet:73230	\N	"" []	Orphanet:73230	"" []	221971	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Ossification anomalies - psychomotor development delay
Orphanet:93447	Orphanet:73230	\N	"" []	Orphanet:73230	"" []	221972	\N	\N	EFO	1	EFO	Primary bone dysplasia with defective bone mineralization	Ossification anomalies - psychomotor development delay
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:73230	"" []	577983	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Ossification anomalies - psychomotor development delay
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:73230	"" []	577984	\N	\N	EFO	2	EFO	Primary bone dysplasia	Ossification anomalies - psychomotor development delay
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:73230	"" []	1161426	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ossification anomalies - psychomotor development delay
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:73230	"" []	1161427	\N	\N	EFO	3	EFO	Rare genetic bone disease	Ossification anomalies - psychomotor development delay
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:73230	"" []	1161428	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Ossification anomalies - psychomotor development delay
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73230	"" []	2044913	\N	\N	EFO	4	EFO	genetic disorder	Ossification anomalies - psychomotor development delay
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73230	"" []	2044914	\N	\N	EFO	4	EFO	genetic disorder	Ossification anomalies - psychomotor development delay
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:73230	"" []	2044915	\N	\N	EFO	4	EFO	bone disease	Ossification anomalies - psychomotor development delay
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:73230	"" []	2044916	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ossification anomalies - psychomotor development delay
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73230	"" []	4400983	\N	\N	EFO	6	EFO	disease	Ossification anomalies - psychomotor development delay
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:73230	"" []	3195024	\N	\N	EFO	5	EFO	skeletal system disease	Ossification anomalies - psychomotor development delay
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73230	"" []	3195025	\N	\N	EFO	5	EFO	genetic disorder	Ossification anomalies - psychomotor development delay
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:73230	"" []	5183212	\N	\N	EFO	7	EFO	disposition	Ossification anomalies - psychomotor development delay
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73230	"" []	4400982	\N	\N	EFO	6	EFO	disease	Ossification anomalies - psychomotor development delay
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:73230	"" []	5998550	\N	\N	EFO	8	EFO	material property	Ossification anomalies - psychomotor development delay
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:73230	"" []	6551649	\N	\N	EFO	9	EFO	experimental factor	Ossification anomalies - psychomotor development delay
Orphanet:73245	\N	\N	"" []	Orphanet:73245	"" []	77760	\N	\N	EFO	0	EFO	Spinal muscular atrophy - Dandy-Walker malformation - cataracts	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
Orphanet:207012	Orphanet:73245	\N	"" []	Orphanet:73245	"" []	221973	\N	\N	EFO	1	EFO	Spinal muscular atrophy associated with central nervous system anomaly	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
Orphanet:206701	Orphanet:207012	\N	"" []	Orphanet:73245	"" []	577985	\N	\N	EFO	2	EFO	Bulbospinal muscular atrophy	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:73245	"" []	1161429	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:73245	"" []	2044917	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:73245	"" []	3195026	\N	\N	EFO	5	EFO	muscular disease	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:73245	"" []	3195027	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:73245	"" []	4400984	\N	\N	EFO	6	EFO	skeletal system disease	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73245	"" []	4400985	\N	\N	EFO	6	EFO	genetic disorder	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73245	"" []	5417478	\N	\N	EFO	7	EFO	disease	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73245	"" []	5417479	\N	\N	EFO	7	EFO	disease	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:73245	"" []	6152488	\N	\N	EFO	8	EFO	disposition	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:73245	"" []	6634083	\N	\N	EFO	9	EFO	material property	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:73245	"" []	6926238	\N	\N	EFO	10	EFO	experimental factor	Spinal muscular atrophy - Dandy-Walker malformation - cataracts
Orphanet:73246	\N	\N	"" []	Orphanet:73246	"" []	77761	\N	\N	EFO	0	EFO	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
Orphanet:102283	Orphanet:73246	\N	"" []	Orphanet:73246	"" []	221974	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
Orphanet:183763	Orphanet:73246	\N	"" []	Orphanet:73246	"" []	221975	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:73246	"" []	577986	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:73246	"" []	577987	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:73246	"" []	1161430	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:73246	"" []	1161431	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73246	"" []	2044918	\N	\N	EFO	4	EFO	genetic disorder	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73246	"" []	2044919	\N	\N	EFO	4	EFO	genetic disorder	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73246	"" []	3195028	\N	\N	EFO	5	EFO	disease	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:73246	"" []	4400986	\N	\N	EFO	6	EFO	disposition	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:73246	"" []	5417480	\N	\N	EFO	7	EFO	material property	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:73246	"" []	6152489	\N	\N	EFO	8	EFO	experimental factor	Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
Orphanet:73271	\N	\N	"" []	Orphanet:73271	"" []	77762	\N	\N	EFO	0	EFO	Bleeding diathesis due to a collagen receptor defect	Bleeding diathesis due to a collagen receptor defect
Orphanet:275736	Orphanet:73271	\N	"" []	Orphanet:73271	"" []	221976	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a platelet receptor defect	Bleeding diathesis due to a collagen receptor defect
Orphanet:71202	Orphanet:275736	\N	"" []	Orphanet:73271	"" []	577988	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Bleeding diathesis due to a collagen receptor defect
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:73271	"" []	1161432	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Bleeding diathesis due to a collagen receptor defect
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:73271	"" []	2044920	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Bleeding diathesis due to a collagen receptor defect
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73271	"" []	3195029	\N	\N	EFO	5	EFO	genetic disorder	Bleeding diathesis due to a collagen receptor defect
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:73271	"" []	3195030	\N	\N	EFO	5	EFO	hematological system disease	Bleeding diathesis due to a collagen receptor defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73271	"" []	4400987	\N	\N	EFO	6	EFO	disease	Bleeding diathesis due to a collagen receptor defect
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73271	"" []	4400988	\N	\N	EFO	6	EFO	disease	Bleeding diathesis due to a collagen receptor defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:73271	"" []	5417481	\N	\N	EFO	7	EFO	disposition	Bleeding diathesis due to a collagen receptor defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:73271	"" []	6152490	\N	\N	EFO	8	EFO	material property	Bleeding diathesis due to a collagen receptor defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:73271	"" []	6634084	\N	\N	EFO	9	EFO	experimental factor	Bleeding diathesis due to a collagen receptor defect
Orphanet:73272	\N	\N	"" []	Orphanet:73272	"" []	77763	\N	\N	EFO	0	EFO	Growth delay due to insulin-like growth factor type 1 deficiency	Growth delay due to insulin-like growth factor type 1 deficiency
Orphanet:181393	Orphanet:73272	\N	"" []	Orphanet:73272	"" []	221977	\N	\N	EFO	1	EFO	Growth hormone insensitivity syndrome	Growth delay due to insulin-like growth factor type 1 deficiency
Orphanet:183628	Orphanet:181393	\N	"" []	Orphanet:73272	"" []	577989	\N	\N	EFO	2	EFO	Rare genetic hypothalamic or pituitary disease	Growth delay due to insulin-like growth factor type 1 deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:73272	"" []	1161433	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Growth delay due to insulin-like growth factor type 1 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73272	"" []	2044921	\N	\N	EFO	4	EFO	genetic disorder	Growth delay due to insulin-like growth factor type 1 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:73272	"" []	2044922	\N	\N	EFO	4	EFO	endocrine system disease	Growth delay due to insulin-like growth factor type 1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73272	"" []	3195031	\N	\N	EFO	5	EFO	disease	Growth delay due to insulin-like growth factor type 1 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73272	"" []	3195032	\N	\N	EFO	5	EFO	disease	Growth delay due to insulin-like growth factor type 1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:73272	"" []	4400989	\N	\N	EFO	6	EFO	disposition	Growth delay due to insulin-like growth factor type 1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:73272	"" []	5417482	\N	\N	EFO	7	EFO	material property	Growth delay due to insulin-like growth factor type 1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:73272	"" []	6152491	\N	\N	EFO	8	EFO	experimental factor	Growth delay due to insulin-like growth factor type 1 deficiency
Orphanet:73273	\N	\N	"" []	Orphanet:73273	"" []	77764	\N	\N	EFO	0	EFO	Growth delay due to insulin-like growth factor I resistance	Growth delay due to insulin-like growth factor I resistance
Orphanet:181393	Orphanet:73273	\N	"" []	Orphanet:73273	"" []	221978	\N	\N	EFO	1	EFO	Growth hormone insensitivity syndrome	Growth delay due to insulin-like growth factor I resistance
Orphanet:183628	Orphanet:181393	\N	"" []	Orphanet:73273	"" []	577990	\N	\N	EFO	2	EFO	Rare genetic hypothalamic or pituitary disease	Growth delay due to insulin-like growth factor I resistance
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:73273	"" []	1161434	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Growth delay due to insulin-like growth factor I resistance
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:73273	"" []	2044923	\N	\N	EFO	4	EFO	genetic disorder	Growth delay due to insulin-like growth factor I resistance
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:73273	"" []	2044924	\N	\N	EFO	4	EFO	endocrine system disease	Growth delay due to insulin-like growth factor I resistance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73273	"" []	3195033	\N	\N	EFO	5	EFO	disease	Growth delay due to insulin-like growth factor I resistance
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:73273	"" []	3195034	\N	\N	EFO	5	EFO	disease	Growth delay due to insulin-like growth factor I resistance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:73273	"" []	4400990	\N	\N	EFO	6	EFO	disposition	Growth delay due to insulin-like growth factor I resistance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:73273	"" []	5417483	\N	\N	EFO	7	EFO	material property	Growth delay due to insulin-like growth factor I resistance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:73273	"" []	6152492	\N	\N	EFO	8	EFO	experimental factor	Growth delay due to insulin-like growth factor I resistance
Orphanet:733	\N	\N	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	77765	\N	\N	EFO	0	EFO	Familial adenomatous polyposis	Familial adenomatous polyposis
Orphanet:140162	Orphanet:733	\N	"" []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	221979	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Familial adenomatous polyposis
Orphanet:271835	Orphanet:733	\N	"" []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	221980	\N	\N	EFO	1	EFO	Genetic digestive tract tumor	Familial adenomatous polyposis
Orphanet:363314	Orphanet:733	\N	"" []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	221981	\N	\N	EFO	1	EFO	Genetic intestinal polyposis	Familial adenomatous polyposis
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	577991	\N	\N	EFO	2	EFO	genetic disorder	Familial adenomatous polyposis
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	577992	\N	\N	EFO	2	EFO	digestive system disease	Familial adenomatous polyposis
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	577993	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial adenomatous polyposis
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	577994	\N	\N	EFO	2	EFO	Genetic intestinal disease	Familial adenomatous polyposis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	3195036	\N	\N	EFO	5	EFO	disease	Familial adenomatous polyposis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	2044928	\N	\N	EFO	4	EFO	disease	Familial adenomatous polyposis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	1161437	\N	\N	EFO	3	EFO	genetic disorder	Familial adenomatous polyposis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	1161438	\N	\N	EFO	3	EFO	neoplasm	Familial adenomatous polyposis
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	1161439	\N	\N	EFO	3	EFO	digestive system disease	Familial adenomatous polyposis
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	1161440	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Familial adenomatous polyposis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	4066981	\N	\N	EFO	6	EFO	disposition	Familial adenomatous polyposis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	2044927	\N	\N	EFO	4	EFO	disease	Familial adenomatous polyposis
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	2044929	\N	\N	EFO	4	EFO	genetic disorder	Familial adenomatous polyposis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	5060213	\N	\N	EFO	7	EFO	material property	Familial adenomatous polyposis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:733	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	5877655	\N	\N	EFO	8	EFO	experimental factor	Familial adenomatous polyposis
Orphanet:734	\N	\N	"" []	Orphanet:734	"" []	77766	\N	\N	EFO	0	EFO	Alpha delta granule deficiency	Alpha delta granule deficiency
Orphanet:98454	Orphanet:734	\N	"" []	Orphanet:734	"" []	221982	\N	\N	EFO	1	EFO	Platelet storage pool disease	Alpha delta granule deficiency
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:734	"" []	577995	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Alpha delta granule deficiency
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:734	"" []	1161441	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Alpha delta granule deficiency
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:734	"" []	2044930	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Alpha delta granule deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:734	"" []	3195037	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Alpha delta granule deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:734	"" []	4400992	\N	\N	EFO	6	EFO	genetic disorder	Alpha delta granule deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:734	"" []	4400993	\N	\N	EFO	6	EFO	hematological system disease	Alpha delta granule deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:734	"" []	5417484	\N	\N	EFO	7	EFO	disease	Alpha delta granule deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:734	"" []	5417485	\N	\N	EFO	7	EFO	disease	Alpha delta granule deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:734	"" []	6152493	\N	\N	EFO	8	EFO	disposition	Alpha delta granule deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:734	"" []	6634085	\N	\N	EFO	9	EFO	material property	Alpha delta granule deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:734	"" []	6926239	\N	\N	EFO	10	EFO	experimental factor	Alpha delta granule deficiency
Orphanet:735	\N	\N	"" []	Orphanet:735	"" []	77767	\N	\N	EFO	0	EFO	Porokeratosis of Mibelli	Porokeratosis of Mibelli
Orphanet:183444	Orphanet:735	\N	"" []	Orphanet:735	"" []	221983	\N	\N	EFO	1	EFO	Genetic porokeratosis	Porokeratosis of Mibelli
Orphanet:183426	Orphanet:183444	\N	"" []	Orphanet:735	"" []	577996	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Porokeratosis of Mibelli
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:735	"" []	1161442	\N	\N	EFO	3	EFO	Rare genetic skin disease	Porokeratosis of Mibelli
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:735	"" []	2044931	\N	\N	EFO	4	EFO	genetic disorder	Porokeratosis of Mibelli
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:735	"" []	2044932	\N	\N	EFO	4	EFO	skin disease	Porokeratosis of Mibelli
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:735	"" []	3195038	\N	\N	EFO	5	EFO	disease	Porokeratosis of Mibelli
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:735	"" []	3195039	\N	\N	EFO	5	EFO	disease	Porokeratosis of Mibelli
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:735	"" []	4400994	\N	\N	EFO	6	EFO	disposition	Porokeratosis of Mibelli
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:735	"" []	5417486	\N	\N	EFO	7	EFO	material property	Porokeratosis of Mibelli
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:735	"" []	6152494	\N	\N	EFO	8	EFO	experimental factor	Porokeratosis of Mibelli
Orphanet:737	\N	\N	"" []	Orphanet:737	"" []	77768	\N	\N	EFO	0	EFO	Porokeratosis plantaris palmaris et disseminata	Porokeratosis plantaris palmaris et disseminata
Orphanet:183444	Orphanet:737	\N	"" []	Orphanet:737	"" []	221984	\N	\N	EFO	1	EFO	Genetic porokeratosis	Porokeratosis plantaris palmaris et disseminata
Orphanet:2338	Orphanet:737	\N	"" []	Orphanet:737	"" []	221985	\N	\N	EFO	1	EFO	Isolated punctate palmoplantar keratoderma	Porokeratosis plantaris palmaris et disseminata
Orphanet:183426	Orphanet:183444	\N	"" []	Orphanet:737	"" []	577997	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Porokeratosis plantaris palmaris et disseminata
Orphanet:307967	Orphanet:2338	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:737	"" []	577998	\N	\N	EFO	2	EFO	Punctate palmoplantar keratoderma	Porokeratosis plantaris palmaris et disseminata
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:737	"" []	3195043	\N	\N	EFO	5	EFO	Rare genetic skin disease	Porokeratosis plantaris palmaris et disseminata
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:737	"" []	1161444	\N	\N	EFO	3	EFO	palmoplantar keratosis	Porokeratosis plantaris palmaris et disseminata
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:737	"" []	1161445	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Porokeratosis plantaris palmaris et disseminata
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:737	"" []	4066982	\N	\N	EFO	6	EFO	genetic disorder	Porokeratosis plantaris palmaris et disseminata
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:737	"" []	4066983	\N	\N	EFO	6	EFO	skin disease	Porokeratosis plantaris palmaris et disseminata
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:737	"" []	2044935	\N	\N	EFO	4	EFO	keratosis	Porokeratosis plantaris palmaris et disseminata
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:737	"" []	2044936	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Porokeratosis plantaris palmaris et disseminata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:737	"" []	5060214	\N	\N	EFO	7	EFO	disease	Porokeratosis plantaris palmaris et disseminata
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:737	"" []	5060215	\N	\N	EFO	7	EFO	disease	Porokeratosis plantaris palmaris et disseminata
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:737	"" []	3195042	\N	\N	EFO	5	EFO	skin disease	Porokeratosis plantaris palmaris et disseminata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:737	"" []	5877656	\N	\N	EFO	8	EFO	disposition	Porokeratosis plantaris palmaris et disseminata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:737	"" []	6470886	\N	\N	EFO	9	EFO	material property	Porokeratosis plantaris palmaris et disseminata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:737	"" []	6848757	\N	\N	EFO	10	EFO	experimental factor	Porokeratosis plantaris palmaris et disseminata
Orphanet:738	\N	\N	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	77769	\N	\N	EFO	0	EFO	Porphyria	Porphyria
Orphanet:183490	Orphanet:738	\N	"" []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	221986	\N	\N	EFO	1	EFO	Genetic photodermatosis	Porphyria
Orphanet:309813	Orphanet:738	\N	"" []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	221987	\N	\N	EFO	1	EFO	Disorder of porphyrin and haem metabolism	Porphyria
Orphanet:79387	Orphanet:738	\N	"" []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	221988	\N	\N	EFO	1	EFO	Metabolic disease with skin involvement	Porphyria
Orphanet:93593	Orphanet:738	\N	"" []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	221989	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Porphyria
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	577999	\N	\N	EFO	2	EFO	Rare genetic skin disease	Porphyria
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	578000	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Porphyria
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	578001	\N	\N	EFO	2	EFO	Rare genetic skin disease	Porphyria
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	578002	\N	\N	EFO	2	EFO	Rare genetic renal disease	Porphyria
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	1161446	\N	\N	EFO	3	EFO	genetic disorder	Porphyria
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	1161447	\N	\N	EFO	3	EFO	skin disease	Porphyria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	1161448	\N	\N	EFO	3	EFO	genetic disorder	Porphyria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	1161449	\N	\N	EFO	3	EFO	metabolic disease	Porphyria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	1161450	\N	\N	EFO	3	EFO	genetic disorder	Porphyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	2044937	\N	\N	EFO	4	EFO	disease	Porphyria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	2044938	\N	\N	EFO	4	EFO	disease	Porphyria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	2044939	\N	\N	EFO	4	EFO	disease	Porphyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	3195044	\N	\N	EFO	5	EFO	disposition	Porphyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	4400997	\N	\N	EFO	6	EFO	material property	Porphyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:738	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	5417488	\N	\N	EFO	7	EFO	experimental factor	Porphyria
Orphanet:739	\N	\N	"" []	Orphanet:739	"" []	77770	\N	\N	EFO	0	EFO	Prader-Willi syndrome	Prader-Willi syndrome
Orphanet:181387	Orphanet:739	\N	"" []	Orphanet:739	"" []	221990	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Prader-Willi syndrome
Orphanet:240371	Orphanet:739	\N	"" []	Orphanet:739	"" []	221991	\N	\N	EFO	1	EFO	Syndromic obesity	Prader-Willi syndrome
Orphanet:330197	Orphanet:739	\N	"" []	Orphanet:739	"" []	221992	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Prader-Willi syndrome
Orphanet:399846	Orphanet:739	\N	"" []	Orphanet:739	"" []	221993	\N	\N	EFO	1	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:739	"" []	578003	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Prader-Willi syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:739	"" []	578004	\N	\N	EFO	2	EFO	Genetic obesity	Prader-Willi syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:739	"" []	578005	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Prader-Willi syndrome
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:739	"" []	578006	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:739	"" []	1161451	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Prader-Willi syndrome
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:739	"" []	1161452	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:739	"" []	1161453	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Prader-Willi syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:739	"" []	1161454	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Prader-Willi syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:739	"" []	1161455	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Prader-Willi syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:739	"" []	1161456	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:739	"" []	1161457	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:739	"" []	2044940	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Prader-Willi syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:739	"" []	2044941	\N	\N	EFO	4	EFO	Rare genetic male infertility	Prader-Willi syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:739	"" []	2044942	\N	\N	EFO	4	EFO	Pituitary deficiency	Prader-Willi syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:739	"" []	5417491	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:739	"" []	5417492	\N	\N	EFO	7	EFO	endocrine system disease	Prader-Willi syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:739	"" []	2044945	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:739	"" []	3195051	\N	\N	EFO	5	EFO	genetic disorder	Prader-Willi syndrome
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:739	"" []	2044947	\N	\N	EFO	4	EFO	Rare genetic female infertility	Prader-Willi syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:739	"" []	3195045	\N	\N	EFO	5	EFO	genetic disorder	Prader-Willi syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:739	"" []	3195046	\N	\N	EFO	5	EFO	reproductive system disease	Prader-Willi syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:739	"" []	3195047	\N	\N	EFO	5	EFO	Genetic infertility	Prader-Willi syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:739	"" []	3195048	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Prader-Willi syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:739	"" []	5817836	\N	\N	EFO	8	EFO	disease	Prader-Willi syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:739	"" []	5817837	\N	\N	EFO	8	EFO	disease	Prader-Willi syndrome
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:739	"" []	3195052	\N	\N	EFO	5	EFO	Genetic infertility	Prader-Willi syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:739	"" []	5417490	\N	\N	EFO	7	EFO	disease	Prader-Willi syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:739	"" []	4400999	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:739	"" []	4401000	\N	\N	EFO	6	EFO	reproductive system disease	Prader-Willi syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:739	"" []	4401001	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Prader-Willi syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:739	"" []	6410317	\N	\N	EFO	9	EFO	disposition	Prader-Willi syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:739	"" []	6808138	\N	\N	EFO	10	EFO	material property	Prader-Willi syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:739	"" []	7048788	\N	\N	EFO	11	EFO	experimental factor	Prader-Willi syndrome
Orphanet:740	\N	\N	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	77771	\N	\N	EFO	0	EFO	Hutchinson-Gilford progeria syndrome	Hutchinson-Gilford progeria syndrome
Orphanet:139027	Orphanet:740	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	221994	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Hutchinson-Gilford progeria syndrome
Orphanet:363245	Orphanet:740	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	221995	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Hutchinson-Gilford progeria syndrome
Orphanet:79389	Orphanet:740	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	221996	\N	\N	EFO	1	EFO	Premature aging	Hutchinson-Gilford progeria syndrome
Orphanet:93449	Orphanet:740	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	221997	\N	\N	EFO	1	EFO	Primary osteolysis	Hutchinson-Gilford progeria syndrome
Orphanet:98709	Orphanet:740	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	221998	\N	\N	EFO	1	EFO	Ectodermal malformation syndrome associated with ocular features	Hutchinson-Gilford progeria syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	578007	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hutchinson-Gilford progeria syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	578008	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hutchinson-Gilford progeria syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	578009	\N	\N	EFO	2	EFO	Rare genetic skin disease	Hutchinson-Gilford progeria syndrome
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	578010	\N	\N	EFO	2	EFO	Primary bone dysplasia	Hutchinson-Gilford progeria syndrome
Orphanet:101435	Orphanet:98709	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	578011	\N	\N	EFO	2	EFO	Rare genetic eye disease	Hutchinson-Gilford progeria syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	3195056	\N	\N	EFO	5	EFO	genetic disorder	Hutchinson-Gilford progeria syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	1161459	\N	\N	EFO	3	EFO	genetic disorder	Hutchinson-Gilford progeria syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	1161460	\N	\N	EFO	3	EFO	skin disease	Hutchinson-Gilford progeria syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	1161461	\N	\N	EFO	3	EFO	Rare genetic bone disease	Hutchinson-Gilford progeria syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	1161462	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Hutchinson-Gilford progeria syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	1161463	\N	\N	EFO	3	EFO	genetic disorder	Hutchinson-Gilford progeria syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	1161464	\N	\N	EFO	3	EFO	eye disease	Hutchinson-Gilford progeria syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	4066984	\N	\N	EFO	6	EFO	disease	Hutchinson-Gilford progeria syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	2044949	\N	\N	EFO	4	EFO	disease	Hutchinson-Gilford progeria syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	2044950	\N	\N	EFO	4	EFO	genetic disorder	Hutchinson-Gilford progeria syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	2044951	\N	\N	EFO	4	EFO	bone disease	Hutchinson-Gilford progeria syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	2044952	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hutchinson-Gilford progeria syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	2044953	\N	\N	EFO	4	EFO	disease	Hutchinson-Gilford progeria syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	5060216	\N	\N	EFO	7	EFO	disposition	Hutchinson-Gilford progeria syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	3195055	\N	\N	EFO	5	EFO	skeletal system disease	Hutchinson-Gilford progeria syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	5877658	\N	\N	EFO	8	EFO	material property	Hutchinson-Gilford progeria syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	4401004	\N	\N	EFO	6	EFO	disease	Hutchinson-Gilford progeria syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:740	"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." []	6470888	\N	\N	EFO	9	EFO	experimental factor	Hutchinson-Gilford progeria syndrome
Orphanet:742	\N	\N	"" []	Orphanet:742	"" []	77772	\N	\N	EFO	0	EFO	Prolidase deficiency	Prolidase deficiency
Orphanet:79187	Orphanet:742	\N	"" []	Orphanet:742	"" []	221999	\N	\N	EFO	1	EFO	Disorder of peptide metabolism	Prolidase deficiency
Orphanet:79387	Orphanet:742	\N	"" []	Orphanet:742	"" []	222000	\N	\N	EFO	1	EFO	Metabolic disease with skin involvement	Prolidase deficiency
Orphanet:89832	Orphanet:742	\N	"" []	Orphanet:742	"" []	222001	\N	\N	EFO	1	EFO	Syndromic lymphedema	Prolidase deficiency
Orphanet:79062	Orphanet:79187	\N	"" []	Orphanet:742	"" []	578012	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Prolidase deficiency
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:742	"" []	578013	\N	\N	EFO	2	EFO	Rare genetic skin disease	Prolidase deficiency
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:742	"" []	578014	\N	\N	EFO	2	EFO	Lymphedema	Prolidase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:742	"" []	1161465	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Prolidase deficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:742	"" []	2044958	\N	\N	EFO	4	EFO	genetic disorder	Prolidase deficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:742	"" []	2044959	\N	\N	EFO	4	EFO	skin disease	Prolidase deficiency
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:742	"" []	1161468	\N	\N	EFO	3	EFO	Rare genetic skin disease	Prolidase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:742	"" []	2044954	\N	\N	EFO	4	EFO	genetic disorder	Prolidase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:742	"" []	2044955	\N	\N	EFO	4	EFO	metabolic disease	Prolidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:742	"" []	3000432	\N	\N	EFO	5	EFO	disease	Prolidase deficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:742	"" []	3000433	\N	\N	EFO	5	EFO	disease	Prolidase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:742	"" []	3195057	\N	\N	EFO	5	EFO	disease	Prolidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:742	"" []	4134284	\N	\N	EFO	6	EFO	disposition	Prolidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:742	"" []	5183217	\N	\N	EFO	7	EFO	material property	Prolidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:742	"" []	5998554	\N	\N	EFO	8	EFO	experimental factor	Prolidase deficiency
Orphanet:743	\N	\N	"" []	Orphanet:743	"" []	77773	\N	\N	EFO	0	EFO	Hereditary thrombophilia due to congenital protein S deficiency	Hereditary thrombophilia due to congenital protein S deficiency
Orphanet:217454	Orphanet:743	\N	"" []	Orphanet:743	"" []	222002	\N	\N	EFO	1	EFO	Rare hereditary thrombophilia	Hereditary thrombophilia due to congenital protein S deficiency
Orphanet:248361	Orphanet:217454	\N	"" []	Orphanet:743	"" []	578015	\N	\N	EFO	2	EFO	Rare thrombotic disorder due to a constitutional coagulation factors defect	Hereditary thrombophilia due to congenital protein S deficiency
Orphanet:399185	Orphanet:217454	\N	"" []	Orphanet:743	"" []	578016	\N	\N	EFO	2	EFO	Rare hereditary disease with avascular necrosis	Hereditary thrombophilia due to congenital protein S deficiency
Orphanet:183654	Orphanet:248361	\N	"" []	Orphanet:743	"" []	1161469	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Hereditary thrombophilia due to congenital protein S deficiency
Orphanet:399388	Orphanet:399185	\N	"" []	Orphanet:743	"" []	1161470	\N	\N	EFO	3	EFO	Avascular necrosis of genetic origin	Hereditary thrombophilia due to congenital protein S deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:743	"" []	2044960	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hereditary thrombophilia due to congenital protein S deficiency
Orphanet:399380	Orphanet:399388	\N	"" []	Orphanet:743	"" []	2044961	\N	\N	EFO	4	EFO	Osteonecrosis of genetic origin	Hereditary thrombophilia due to congenital protein S deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:743	"" []	3195059	\N	\N	EFO	5	EFO	genetic disorder	Hereditary thrombophilia due to congenital protein S deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:743	"" []	3195060	\N	\N	EFO	5	EFO	hematological system disease	Hereditary thrombophilia due to congenital protein S deficiency
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:743	"" []	3195061	\N	\N	EFO	5	EFO	Rare genetic bone disease	Hereditary thrombophilia due to congenital protein S deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:743	"" []	5417497	\N	\N	EFO	7	EFO	disease	Hereditary thrombophilia due to congenital protein S deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:743	"" []	4401007	\N	\N	EFO	6	EFO	disease	Hereditary thrombophilia due to congenital protein S deficiency
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:743	"" []	4401008	\N	\N	EFO	6	EFO	genetic disorder	Hereditary thrombophilia due to congenital protein S deficiency
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:743	"" []	4401009	\N	\N	EFO	6	EFO	bone disease	Hereditary thrombophilia due to congenital protein S deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:743	"" []	6634087	\N	\N	EFO	9	EFO	disposition	Hereditary thrombophilia due to congenital protein S deficiency
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:743	"" []	5417498	\N	\N	EFO	7	EFO	skeletal system disease	Hereditary thrombophilia due to congenital protein S deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:743	"" []	6848759	\N	\N	EFO	10	EFO	material property	Hereditary thrombophilia due to congenital protein S deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:743	"" []	6152498	\N	\N	EFO	8	EFO	disease	Hereditary thrombophilia due to congenital protein S deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:743	"" []	7068525	\N	\N	EFO	11	EFO	experimental factor	Hereditary thrombophilia due to congenital protein S deficiency
Orphanet:744	\N	\N	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	77774	\N	\N	EFO	0	EFO	Proteus syndrome	Proteus syndrome
Orphanet:156237	Orphanet:744	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	222003	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Proteus syndrome
Orphanet:166466	Orphanet:744	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	222004	\N	\N	EFO	1	EFO	Neurocutaneous syndrome with epilepsy	Proteus syndrome
Orphanet:211240	Orphanet:744	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	222005	\N	\N	EFO	1	EFO	Genetic vascular anomaly	Proteus syndrome
Orphanet:306498	Orphanet:744	\N	" mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	222006	\N	\N	EFO	1	EFO	PTEN hamartoma tumor syndrome	Proteus syndrome
Orphanet:93460	Orphanet:744	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	222007	\N	\N	EFO	1	EFO	Overgrowth syndrome	Proteus syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	578017	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Proteus syndrome
Orphanet:183512	Orphanet:166466	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	578018	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Proteus syndrome
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	578019	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Proteus syndrome
Orphanet:183422	Orphanet:306498	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	578020	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Proteus syndrome
Orphanet:98196	Orphanet:306498	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	578021	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	Proteus syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	578022	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Proteus syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	1161471	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Proteus syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	1161472	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Proteus syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	3195062	\N	\N	EFO	5	EFO	genetic disorder	Proteus syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	1161474	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Proteus syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	1161475	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Proteus syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	1161476	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Proteus syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	2044962	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Proteus syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	2044963	\N	\N	EFO	4	EFO	genetic disorder	Proteus syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	4066985	\N	\N	EFO	6	EFO	disease	Proteus syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	2044965	\N	\N	EFO	4	EFO	genetic disorder	Proteus syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	5060217	\N	\N	EFO	7	EFO	disposition	Proteus syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	5877659	\N	\N	EFO	8	EFO	material property	Proteus syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:744	"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." []	6470889	\N	\N	EFO	9	EFO	experimental factor	Proteus syndrome
Orphanet:745	\N	\N	"" []	Orphanet:745	"" []	77775	\N	\N	EFO	0	EFO	Hereditary thrombophilia due to congenital protein C deficiency	Hereditary thrombophilia due to congenital protein C deficiency
Orphanet:217454	Orphanet:745	\N	"" []	Orphanet:745	"" []	222008	\N	\N	EFO	1	EFO	Rare hereditary thrombophilia	Hereditary thrombophilia due to congenital protein C deficiency
Orphanet:248361	Orphanet:217454	\N	"" []	Orphanet:745	"" []	578023	\N	\N	EFO	2	EFO	Rare thrombotic disorder due to a constitutional coagulation factors defect	Hereditary thrombophilia due to congenital protein C deficiency
Orphanet:399185	Orphanet:217454	\N	"" []	Orphanet:745	"" []	578024	\N	\N	EFO	2	EFO	Rare hereditary disease with avascular necrosis	Hereditary thrombophilia due to congenital protein C deficiency
Orphanet:183654	Orphanet:248361	\N	"" []	Orphanet:745	"" []	1161477	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Hereditary thrombophilia due to congenital protein C deficiency
Orphanet:399388	Orphanet:399185	\N	"" []	Orphanet:745	"" []	1161478	\N	\N	EFO	3	EFO	Avascular necrosis of genetic origin	Hereditary thrombophilia due to congenital protein C deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:745	"" []	2044967	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hereditary thrombophilia due to congenital protein C deficiency
Orphanet:399380	Orphanet:399388	\N	"" []	Orphanet:745	"" []	2044968	\N	\N	EFO	4	EFO	Osteonecrosis of genetic origin	Hereditary thrombophilia due to congenital protein C deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:745	"" []	3195064	\N	\N	EFO	5	EFO	genetic disorder	Hereditary thrombophilia due to congenital protein C deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:745	"" []	3195065	\N	\N	EFO	5	EFO	hematological system disease	Hereditary thrombophilia due to congenital protein C deficiency
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:745	"" []	3195066	\N	\N	EFO	5	EFO	Rare genetic bone disease	Hereditary thrombophilia due to congenital protein C deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:745	"" []	5417501	\N	\N	EFO	7	EFO	disease	Hereditary thrombophilia due to congenital protein C deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:745	"" []	4401012	\N	\N	EFO	6	EFO	disease	Hereditary thrombophilia due to congenital protein C deficiency
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:745	"" []	4401013	\N	\N	EFO	6	EFO	genetic disorder	Hereditary thrombophilia due to congenital protein C deficiency
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:745	"" []	4401014	\N	\N	EFO	6	EFO	bone disease	Hereditary thrombophilia due to congenital protein C deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:745	"" []	6634089	\N	\N	EFO	9	EFO	disposition	Hereditary thrombophilia due to congenital protein C deficiency
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:745	"" []	5417502	\N	\N	EFO	7	EFO	skeletal system disease	Hereditary thrombophilia due to congenital protein C deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:745	"" []	6848760	\N	\N	EFO	10	EFO	material property	Hereditary thrombophilia due to congenital protein C deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:745	"" []	6152500	\N	\N	EFO	8	EFO	disease	Hereditary thrombophilia due to congenital protein C deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:745	"" []	7068526	\N	\N	EFO	11	EFO	experimental factor	Hereditary thrombophilia due to congenital protein C deficiency
Orphanet:746	\N	\N	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	77776	\N	\N	EFO	0	EFO	Mitochondrial trifunctional protein deficiency	Mitochondrial trifunctional protein deficiency
Orphanet:206966	Orphanet:746	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	222009	\N	\N	EFO	1	EFO	Mitochondrial myopathy	Mitochondrial trifunctional protein deficiency
Orphanet:207018	Orphanet:746	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	222010	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Mitochondrial trifunctional protein deficiency
Orphanet:217591	Orphanet:746	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	222011	\N	\N	EFO	1	EFO	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Mitochondrial trifunctional protein deficiency
Orphanet:309115	Orphanet:746	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	222012	\N	\N	EFO	1	EFO	Disorder of mitochondrial fatty acid oxidation	Mitochondrial trifunctional protein deficiency
Orphanet:206953	Orphanet:206966	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	578025	\N	\N	EFO	2	EFO	Muscular lipidosis	Mitochondrial trifunctional protein deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	578026	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Mitochondrial trifunctional protein deficiency
Orphanet:99739	Orphanet:217591	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	578027	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Mitochondrial trifunctional protein deficiency
Orphanet:79174	Orphanet:309115	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	578028	\N	\N	EFO	2	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Mitochondrial trifunctional protein deficiency
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	1161479	\N	\N	EFO	3	EFO	Metabolic myopathy	Mitochondrial trifunctional protein deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	1161480	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Mitochondrial trifunctional protein deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	1161481	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Mitochondrial trifunctional protein deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	1161482	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Mitochondrial trifunctional protein deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	2044969	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Mitochondrial trifunctional protein deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	2044970	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Mitochondrial trifunctional protein deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	2044971	\N	\N	EFO	4	EFO	genetic disorder	Mitochondrial trifunctional protein deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	2044972	\N	\N	EFO	4	EFO	heart disease	Mitochondrial trifunctional protein deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	2044973	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Mitochondrial trifunctional protein deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	3195067	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Mitochondrial trifunctional protein deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	6152502	\N	\N	EFO	8	EFO	genetic disorder	Mitochondrial trifunctional protein deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	6410318	\N	\N	EFO	9	EFO	disease	Mitochondrial trifunctional protein deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	3195070	\N	\N	EFO	5	EFO	cardiovascular disease	Mitochondrial trifunctional protein deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	3195071	\N	\N	EFO	5	EFO	genetic disorder	Mitochondrial trifunctional protein deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	3195072	\N	\N	EFO	5	EFO	metabolic disease	Mitochondrial trifunctional protein deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	4401015	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Mitochondrial trifunctional protein deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	6778810	\N	\N	EFO	10	EFO	disposition	Mitochondrial trifunctional protein deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	4401018	\N	\N	EFO	6	EFO	disease	Mitochondrial trifunctional protein deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	4401019	\N	\N	EFO	6	EFO	disease	Mitochondrial trifunctional protein deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	5417503	\N	\N	EFO	7	EFO	muscular disease	Mitochondrial trifunctional protein deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	5417504	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Mitochondrial trifunctional protein deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	7030002	\N	\N	EFO	11	EFO	material property	Mitochondrial trifunctional protein deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	6152501	\N	\N	EFO	8	EFO	skeletal system disease	Mitochondrial trifunctional protein deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	7181819	\N	\N	EFO	12	EFO	experimental factor	Mitochondrial trifunctional protein deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:746	"Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." []	6634090	\N	\N	EFO	9	EFO	disease	Mitochondrial trifunctional protein deficiency
Orphanet:748	\N	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:748	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	77777	\N	\N	EFO	0	EFO	Mendelian susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:748	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	222013	\N	\N	EFO	1	EFO	Genetic susceptibility to infections due to particular pathogens	Mendelian susceptibility to mycobacterial diseases
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:748	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	578029	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Mendelian susceptibility to mycobacterial diseases
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:748	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	1161483	\N	\N	EFO	3	EFO	Primary immunodeficiency	Mendelian susceptibility to mycobacterial diseases
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:748	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	2044974	\N	\N	EFO	4	EFO	Rare genetic immune disease	Mendelian susceptibility to mycobacterial diseases
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:748	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	3195073	\N	\N	EFO	5	EFO	genetic disorder	Mendelian susceptibility to mycobacterial diseases
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:748	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	3195074	\N	\N	EFO	5	EFO	immune system disease	Mendelian susceptibility to mycobacterial diseases
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:748	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	4401020	\N	\N	EFO	6	EFO	disease	Mendelian susceptibility to mycobacterial diseases
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:748	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	4401021	\N	\N	EFO	6	EFO	disease	Mendelian susceptibility to mycobacterial diseases
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:748	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	5417506	\N	\N	EFO	7	EFO	disposition	Mendelian susceptibility to mycobacterial diseases
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:748	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	6152504	\N	\N	EFO	8	EFO	material property	Mendelian susceptibility to mycobacterial diseases
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:748	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	6634091	\N	\N	EFO	9	EFO	experimental factor	Mendelian susceptibility to mycobacterial diseases
Orphanet:749	\N	\N	"" []	Orphanet:749	"" []	77778	\N	\N	EFO	0	EFO	Congenital prekallikrein deficiency	Congenital prekallikrein deficiency
Orphanet:68334	Orphanet:749	\N	"" []	Orphanet:749	"" []	222014	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital prekallikrein deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:749	"" []	578030	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Congenital prekallikrein deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:749	"" []	1161484	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital prekallikrein deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:749	"" []	2044975	\N	\N	EFO	4	EFO	genetic disorder	Congenital prekallikrein deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:749	"" []	2044976	\N	\N	EFO	4	EFO	hematological system disease	Congenital prekallikrein deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:749	"" []	3195075	\N	\N	EFO	5	EFO	disease	Congenital prekallikrein deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:749	"" []	3195076	\N	\N	EFO	5	EFO	disease	Congenital prekallikrein deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:749	"" []	4401022	\N	\N	EFO	6	EFO	disposition	Congenital prekallikrein deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:749	"" []	5417507	\N	\N	EFO	7	EFO	material property	Congenital prekallikrein deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:749	"" []	6152505	\N	\N	EFO	8	EFO	experimental factor	Congenital prekallikrein deficiency
Orphanet:750	\N	\N	"" []	Orphanet:750	"" []	77779	\N	\N	EFO	0	EFO	Pseudoachondroplasia	Pseudoachondroplasia
Orphanet:93429	Orphanet:750	\N	"" []	Orphanet:750	"" []	222015	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Pseudoachondroplasia
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:750	"" []	578031	\N	\N	EFO	2	EFO	Primary bone dysplasia	Pseudoachondroplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:750	"" []	1161485	\N	\N	EFO	3	EFO	Rare genetic bone disease	Pseudoachondroplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:750	"" []	1161486	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Pseudoachondroplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:750	"" []	2044977	\N	\N	EFO	4	EFO	genetic disorder	Pseudoachondroplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:750	"" []	2044978	\N	\N	EFO	4	EFO	bone disease	Pseudoachondroplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:750	"" []	2044979	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pseudoachondroplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:750	"" []	4401025	\N	\N	EFO	6	EFO	disease	Pseudoachondroplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:750	"" []	3195078	\N	\N	EFO	5	EFO	skeletal system disease	Pseudoachondroplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:750	"" []	3195079	\N	\N	EFO	5	EFO	genetic disorder	Pseudoachondroplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:750	"" []	5183220	\N	\N	EFO	7	EFO	disposition	Pseudoachondroplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:750	"" []	4401024	\N	\N	EFO	6	EFO	disease	Pseudoachondroplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:750	"" []	5998559	\N	\N	EFO	8	EFO	material property	Pseudoachondroplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:750	"" []	6551655	\N	\N	EFO	9	EFO	experimental factor	Pseudoachondroplasia
Orphanet:752	\N	\N	"" []	Orphanet:752	"" []	77780	\N	\N	EFO	0	EFO	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:399685	Orphanet:752	\N	"" []	Orphanet:752	"" []	222016	\N	\N	EFO	1	EFO	Rare male infertility due to testicular endocrine disorder	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:400018	Orphanet:752	\N	"" []	Orphanet:752	"" []	222017	\N	\N	EFO	1	EFO	Rare female infertility due to adrenal disorder of genetic origin	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:90787	Orphanet:752	\N	"" []	Orphanet:752	"" []	222018	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to testicular steroidogenesis defect	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:752	"" []	578032	\N	\N	EFO	2	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:400011	Orphanet:400018	\N	"" []	Orphanet:752	"" []	578033	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:325632	Orphanet:90787	\N	"" []	Orphanet:752	"" []	578034	\N	\N	EFO	2	EFO	46,XY disorder of sex development of gynecological interest	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:90783	Orphanet:90787	\N	"" []	Orphanet:752	"" []	578035	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to testosterone synthesis defect	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:752	"" []	1161487	\N	\N	EFO	3	EFO	Rare genetic male infertility	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:752	"" []	1161488	\N	\N	EFO	3	EFO	Rare genetic female infertility	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:752	"" []	1161489	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:752	"" []	1161490	\N	\N	EFO	3	EFO	46,XY disorder of sex development due to impaired androgen production	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:752	"" []	2044980	\N	\N	EFO	4	EFO	Genetic infertility	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:752	"" []	2044981	\N	\N	EFO	4	EFO	Genetic infertility	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:752	"" []	2044982	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:752	"" []	2044983	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development of endocrine origin	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:752	"" []	3195080	\N	\N	EFO	5	EFO	genetic disorder	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:752	"" []	3195081	\N	\N	EFO	5	EFO	reproductive system disease	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:752	"" []	3195082	\N	\N	EFO	5	EFO	genetic disorder	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:752	"" []	3195083	\N	\N	EFO	5	EFO	reproductive system disease	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:752	"" []	3195084	\N	\N	EFO	5	EFO	Genetic 46,XY disorder of sex development	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:752	"" []	6634093	\N	\N	EFO	9	EFO	disease	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:752	"" []	4401027	\N	\N	EFO	6	EFO	disease	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:752	"" []	4401028	\N	\N	EFO	6	EFO	Genetic disorder of sex development	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:752	"" []	6808139	\N	\N	EFO	10	EFO	disposition	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:752	"" []	5417510	\N	\N	EFO	7	EFO	Rare genetic urogenital disease	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:752	"" []	5417511	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:752	"" []	5417512	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:752	"" []	7048789	\N	\N	EFO	11	EFO	material property	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:752	"" []	6152508	\N	\N	EFO	8	EFO	genetic disorder	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:752	"" []	6152509	\N	\N	EFO	8	EFO	genetic disorder	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:752	"" []	6152510	\N	\N	EFO	8	EFO	endocrine system disease	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:752	"" []	6152511	\N	\N	EFO	8	EFO	genetic disorder	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:752	"" []	7190254	\N	\N	EFO	12	EFO	experimental factor	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:752	"" []	6634094	\N	\N	EFO	9	EFO	disease	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Orphanet:75233	\N	\N	"" []	Orphanet:75233	"" []	77781	\N	\N	EFO	0	EFO	Wolman disease	Wolman disease
Orphanet:275761	Orphanet:75233	\N	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	Orphanet:75233	"" []	222019	\N	\N	EFO	1	EFO	Lysosomal acid lipase deficiency	Wolman disease
Orphanet:181437	Orphanet:275761	\N	"" []	Orphanet:75233	"" []	578036	\N	\N	EFO	2	EFO	Rare syndromic dyslipidemia	Wolman disease
Orphanet:79204	Orphanet:275761	\N	"" []	Orphanet:75233	"" []	578037	\N	\N	EFO	2	EFO	Lipid storage disease	Wolman disease
Orphanet:101953	Orphanet:181437	\N	"" []	Orphanet:75233	"" []	1161491	\N	\N	EFO	3	EFO	Rare dyslipidemia	Wolman disease
Orphanet:79225	Orphanet:79204	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:75233	"" []	1161492	\N	\N	EFO	3	EFO	Sphingolipidosis	Wolman disease
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:75233	"" []	2044984	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Wolman disease
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:75233	"" []	2044985	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Wolman disease
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:75233	"" []	2044986	\N	\N	EFO	4	EFO	Lysosomal disease	Wolman disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75233	"" []	3195085	\N	\N	EFO	5	EFO	genetic disorder	Wolman disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:75233	"" []	3195086	\N	\N	EFO	5	EFO	endocrine system disease	Wolman disease
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:75233	"" []	3195087	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Wolman disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:75233	"" []	3195088	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Wolman disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75233	"" []	5417514	\N	\N	EFO	7	EFO	disease	Wolman disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75233	"" []	4401030	\N	\N	EFO	6	EFO	disease	Wolman disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75233	"" []	4401031	\N	\N	EFO	6	EFO	genetic disorder	Wolman disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:75233	"" []	4401032	\N	\N	EFO	6	EFO	metabolic disease	Wolman disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75233	"" []	5998560	\N	\N	EFO	8	EFO	disposition	Wolman disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75233	"" []	5417515	\N	\N	EFO	7	EFO	disease	Wolman disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75233	"" []	6551656	\N	\N	EFO	9	EFO	material property	Wolman disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75233	"" []	6889513	\N	\N	EFO	10	EFO	experimental factor	Wolman disease
Orphanet:75234	\N	\N	"" []	Orphanet:75234	"" []	77782	\N	\N	EFO	0	EFO	Cholesteryl ester storage disease	Cholesteryl ester storage disease
Orphanet:275761	Orphanet:75234	\N	"Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." []	Orphanet:75234	"" []	222020	\N	\N	EFO	1	EFO	Lysosomal acid lipase deficiency	Cholesteryl ester storage disease
Orphanet:181437	Orphanet:275761	\N	"" []	Orphanet:75234	"" []	578038	\N	\N	EFO	2	EFO	Rare syndromic dyslipidemia	Cholesteryl ester storage disease
Orphanet:79204	Orphanet:275761	\N	"" []	Orphanet:75234	"" []	578039	\N	\N	EFO	2	EFO	Lipid storage disease	Cholesteryl ester storage disease
Orphanet:101953	Orphanet:181437	\N	"" []	Orphanet:75234	"" []	1161493	\N	\N	EFO	3	EFO	Rare dyslipidemia	Cholesteryl ester storage disease
Orphanet:79225	Orphanet:79204	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:75234	"" []	1161494	\N	\N	EFO	3	EFO	Sphingolipidosis	Cholesteryl ester storage disease
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:75234	"" []	2044987	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Cholesteryl ester storage disease
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:75234	"" []	2044988	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Cholesteryl ester storage disease
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:75234	"" []	2044989	\N	\N	EFO	4	EFO	Lysosomal disease	Cholesteryl ester storage disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75234	"" []	3195089	\N	\N	EFO	5	EFO	genetic disorder	Cholesteryl ester storage disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:75234	"" []	3195090	\N	\N	EFO	5	EFO	endocrine system disease	Cholesteryl ester storage disease
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:75234	"" []	3195091	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Cholesteryl ester storage disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:75234	"" []	3195092	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Cholesteryl ester storage disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75234	"" []	5417517	\N	\N	EFO	7	EFO	disease	Cholesteryl ester storage disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75234	"" []	4401034	\N	\N	EFO	6	EFO	disease	Cholesteryl ester storage disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75234	"" []	4401035	\N	\N	EFO	6	EFO	genetic disorder	Cholesteryl ester storage disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:75234	"" []	4401036	\N	\N	EFO	6	EFO	metabolic disease	Cholesteryl ester storage disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75234	"" []	5998561	\N	\N	EFO	8	EFO	disposition	Cholesteryl ester storage disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75234	"" []	5417518	\N	\N	EFO	7	EFO	disease	Cholesteryl ester storage disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75234	"" []	6551657	\N	\N	EFO	9	EFO	material property	Cholesteryl ester storage disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75234	"" []	6889514	\N	\N	EFO	10	EFO	experimental factor	Cholesteryl ester storage disease
Orphanet:75249	\N	\N	"" []	Orphanet:75249	"" []	77783	\N	\N	EFO	0	EFO	Familial isolated restrictive cardiomyopathy	Familial isolated restrictive cardiomyopathy
Orphanet:217635	Orphanet:75249	\N	"" []	Orphanet:75249	"" []	222021	\N	\N	EFO	1	EFO	Familial restrictive cardiomyopathy	Familial isolated restrictive cardiomyopathy
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:75249	"" []	578040	\N	\N	EFO	2	EFO	cardiomyopathy	Familial isolated restrictive cardiomyopathy
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:75249	"" []	578041	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Familial isolated restrictive cardiomyopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:75249	"" []	1161495	\N	\N	EFO	3	EFO	heart disease	Familial isolated restrictive cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75249	"" []	1161496	\N	\N	EFO	3	EFO	genetic disorder	Familial isolated restrictive cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:75249	"" []	1161497	\N	\N	EFO	3	EFO	heart disease	Familial isolated restrictive cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:75249	"" []	2044990	\N	\N	EFO	4	EFO	cardiovascular disease	Familial isolated restrictive cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75249	"" []	2044991	\N	\N	EFO	4	EFO	disease	Familial isolated restrictive cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75249	"" []	3195093	\N	\N	EFO	5	EFO	disease	Familial isolated restrictive cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75249	"" []	4401037	\N	\N	EFO	6	EFO	disposition	Familial isolated restrictive cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75249	"" []	5183221	\N	\N	EFO	7	EFO	material property	Familial isolated restrictive cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75249	"" []	5998562	\N	\N	EFO	8	EFO	experimental factor	Familial isolated restrictive cardiomyopathy
Orphanet:753	\N	\N	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	77784	\N	\N	EFO	0	EFO	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:399685	Orphanet:753	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	222022	\N	\N	EFO	1	EFO	Rare male infertility due to testicular endocrine disorder	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:98086	Orphanet:753	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	222023	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	578042	\N	\N	EFO	2	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:325357	Orphanet:98086	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	578043	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to impaired androgen production	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:325632	Orphanet:98086	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	578044	\N	\N	EFO	2	EFO	46,XY disorder of sex development of gynecological interest	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	1161498	\N	\N	EFO	3	EFO	Rare genetic male infertility	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	1161499	\N	\N	EFO	3	EFO	Genetic 46,XY disorder of sex development of endocrine origin	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	1161500	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	2044992	\N	\N	EFO	4	EFO	Genetic infertility	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	2044993	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	2044994	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	3195095	\N	\N	EFO	5	EFO	genetic disorder	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	3195096	\N	\N	EFO	5	EFO	reproductive system disease	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	3195097	\N	\N	EFO	5	EFO	Genetic disorder of sex development	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	3195098	\N	\N	EFO	5	EFO	genetic disorder	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	3195099	\N	\N	EFO	5	EFO	reproductive system disease	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	6152515	\N	\N	EFO	8	EFO	disease	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	4401040	\N	\N	EFO	6	EFO	disease	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	4401041	\N	\N	EFO	6	EFO	Rare genetic urogenital disease	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	4401042	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	4401043	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	6470890	\N	\N	EFO	9	EFO	disposition	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	5417521	\N	\N	EFO	7	EFO	genetic disorder	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	5417522	\N	\N	EFO	7	EFO	genetic disorder	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	5417523	\N	\N	EFO	7	EFO	endocrine system disease	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	5417524	\N	\N	EFO	7	EFO	genetic disorder	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	6848761	\N	\N	EFO	10	EFO	material property	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	6152516	\N	\N	EFO	8	EFO	disease	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:753	"46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." []	7068527	\N	\N	EFO	11	EFO	experimental factor	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Orphanet:75325	\N	\N	"" []	Orphanet:75325	"" []	77785	\N	\N	EFO	0	EFO	Osteosclerosis - ichthyosis - premature ovarian failure	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:281244	Orphanet:75325	\N	"" []	Orphanet:75325	"" []	222024	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:400022	Orphanet:75325	\N	"" []	Orphanet:75325	"" []	222025	\N	\N	EFO	1	EFO	Rare female infertility due to an anomaly of ovarian function of genetic origin	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:93444	Orphanet:75325	\N	"" []	Orphanet:75325	"" []	222026	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:95710	Orphanet:75325	\N	"" []	Orphanet:75325	"" []	222027	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:75325	"" []	578045	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0005771	Orphanet:400022	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:75325	"" []	578046	\N	\N	EFO	2	EFO	ovarian disease	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:400011	Orphanet:400022	\N	"" []	Orphanet:75325	"" []	578047	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:75325	"" []	578048	\N	\N	EFO	2	EFO	Primary bone dysplasia	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:75325	"" []	578049	\N	\N	EFO	2	EFO	ovarian disease	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:75325	"" []	578050	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:75325	"" []	578051	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:75325	"" []	1161501	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:75325	"" []	1161502	\N	\N	EFO	3	EFO	reproductive system disease	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:75325	"" []	1161503	\N	\N	EFO	3	EFO	Rare genetic female infertility	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:75325	"" []	1161504	\N	\N	EFO	3	EFO	Rare genetic bone disease	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:75325	"" []	1161505	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75325	"" []	1161506	\N	\N	EFO	3	EFO	genetic disorder	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:75325	"" []	1161507	\N	\N	EFO	3	EFO	endocrine system disease	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:75325	"" []	1161508	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:75325	"" []	2044995	\N	\N	EFO	4	EFO	Inherited ichthyosis	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75325	"" []	4401047	\N	\N	EFO	6	EFO	disease	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:75325	"" []	2044997	\N	\N	EFO	4	EFO	Genetic infertility	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75325	"" []	2044998	\N	\N	EFO	4	EFO	genetic disorder	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:75325	"" []	2044999	\N	\N	EFO	4	EFO	bone disease	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:75325	"" []	2045000	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75325	"" []	6152517	\N	\N	EFO	8	EFO	disease	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75325	"" []	2045002	\N	\N	EFO	4	EFO	disease	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75325	"" []	2045003	\N	\N	EFO	4	EFO	genetic disorder	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:75325	"" []	2045004	\N	\N	EFO	4	EFO	reproductive system disease	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:75325	"" []	3195100	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Osteosclerosis - ichthyosis - premature ovarian failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75325	"" []	6378978	\N	\N	EFO	9	EFO	disposition	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75325	"" []	3195102	\N	\N	EFO	5	EFO	genetic disorder	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:75325	"" []	3195103	\N	\N	EFO	5	EFO	reproductive system disease	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:75325	"" []	3195105	\N	\N	EFO	5	EFO	skeletal system disease	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75325	"" []	3195106	\N	\N	EFO	5	EFO	genetic disorder	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:75325	"" []	4401044	\N	\N	EFO	6	EFO	Rare genetic skin disease	Osteosclerosis - ichthyosis - premature ovarian failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75325	"" []	6778811	\N	\N	EFO	10	EFO	material property	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75325	"" []	4401048	\N	\N	EFO	6	EFO	disease	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75325	"" []	5417525	\N	\N	EFO	7	EFO	genetic disorder	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:75325	"" []	5417526	\N	\N	EFO	7	EFO	skin disease	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75325	"" []	7030003	\N	\N	EFO	11	EFO	experimental factor	Osteosclerosis - ichthyosis - premature ovarian failure
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75325	"" []	6152518	\N	\N	EFO	8	EFO	disease	Osteosclerosis - ichthyosis - premature ovarian failure
Orphanet:75326	\N	\N	"" []	Orphanet:75326	"" []	77786	\N	\N	EFO	0	EFO	Retinal arterial tortuosity	Retinal arterial tortuosity
Orphanet:183503	Orphanet:75326	\N	"" []	Orphanet:75326	"" []	222028	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Retinal arterial tortuosity
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:75326	"" []	578052	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Retinal arterial tortuosity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75326	"" []	1161509	\N	\N	EFO	3	EFO	genetic disorder	Retinal arterial tortuosity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75326	"" []	2045005	\N	\N	EFO	4	EFO	disease	Retinal arterial tortuosity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75326	"" []	3195108	\N	\N	EFO	5	EFO	disposition	Retinal arterial tortuosity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75326	"" []	4401049	\N	\N	EFO	6	EFO	material property	Retinal arterial tortuosity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75326	"" []	5417528	\N	\N	EFO	7	EFO	experimental factor	Retinal arterial tortuosity
Orphanet:75327	\N	\N	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	77787	\N	\N	EFO	0	EFO	North Carolina macular dystrophy	North Carolina macular dystrophy
Orphanet:98665	Orphanet:75327	\N	"" []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	222029	\N	\N	EFO	1	EFO	Colobomatous and areolar dystrophy	North Carolina macular dystrophy
Orphanet:98664	Orphanet:98665	\N	"" []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	578053	\N	\N	EFO	2	EFO	Genetic macular dystrophy	North Carolina macular dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	1161510	\N	\N	EFO	3	EFO	Retinal dystrophy	North Carolina macular dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	2045006	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	North Carolina macular dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	3195109	\N	\N	EFO	5	EFO	Rare genetic eye disease	North Carolina macular dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	4401050	\N	\N	EFO	6	EFO	genetic disorder	North Carolina macular dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	4401051	\N	\N	EFO	6	EFO	eye disease	North Carolina macular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	5417529	\N	\N	EFO	7	EFO	disease	North Carolina macular dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	5417530	\N	\N	EFO	7	EFO	disease	North Carolina macular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	6152519	\N	\N	EFO	8	EFO	disposition	North Carolina macular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	6634098	\N	\N	EFO	9	EFO	material property	North Carolina macular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75327	"North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." []	6926240	\N	\N	EFO	10	EFO	experimental factor	North Carolina macular dystrophy
Orphanet:75373	\N	\N	"" []	Orphanet:75373	"" []	77788	\N	\N	EFO	0	EFO	Progressive bifocal chorioretinal atrophy	Progressive bifocal chorioretinal atrophy
Orphanet:71862	Orphanet:75373	\N	"" []	Orphanet:75373	"" []	222030	\N	\N	EFO	1	EFO	Retinal dystrophy	Progressive bifocal chorioretinal atrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:75373	"" []	578054	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Progressive bifocal chorioretinal atrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:75373	"" []	1161511	\N	\N	EFO	3	EFO	Rare genetic eye disease	Progressive bifocal chorioretinal atrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75373	"" []	2045007	\N	\N	EFO	4	EFO	genetic disorder	Progressive bifocal chorioretinal atrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:75373	"" []	2045008	\N	\N	EFO	4	EFO	eye disease	Progressive bifocal chorioretinal atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75373	"" []	3195110	\N	\N	EFO	5	EFO	disease	Progressive bifocal chorioretinal atrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75373	"" []	3195111	\N	\N	EFO	5	EFO	disease	Progressive bifocal chorioretinal atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75373	"" []	4401052	\N	\N	EFO	6	EFO	disposition	Progressive bifocal chorioretinal atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75373	"" []	5417531	\N	\N	EFO	7	EFO	material property	Progressive bifocal chorioretinal atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75373	"" []	6152520	\N	\N	EFO	8	EFO	experimental factor	Progressive bifocal chorioretinal atrophy
Orphanet:75374	\N	\N	"" []	Orphanet:75374	"" []	77789	\N	\N	EFO	0	EFO	Bradyopsia	Bradyopsia
Orphanet:98657	Orphanet:75374	\N	"" []	Orphanet:75374	"" []	222031	\N	\N	EFO	1	EFO	Genetic vitreous-retinal disease	Bradyopsia
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:75374	"" []	578055	\N	\N	EFO	2	EFO	Rare genetic eye disease	Bradyopsia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75374	"" []	1161512	\N	\N	EFO	3	EFO	genetic disorder	Bradyopsia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:75374	"" []	1161513	\N	\N	EFO	3	EFO	eye disease	Bradyopsia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75374	"" []	2045009	\N	\N	EFO	4	EFO	disease	Bradyopsia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75374	"" []	2045010	\N	\N	EFO	4	EFO	disease	Bradyopsia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75374	"" []	3195112	\N	\N	EFO	5	EFO	disposition	Bradyopsia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75374	"" []	4401053	\N	\N	EFO	6	EFO	material property	Bradyopsia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75374	"" []	5417532	\N	\N	EFO	7	EFO	experimental factor	Bradyopsia
Orphanet:75376	\N	\N	"" []	Orphanet:75376	"" []	77790	\N	\N	EFO	0	EFO	Familial drusen	Familial drusen
Orphanet:227786	Orphanet:75376	\N	"" []	Orphanet:75376	"" []	222032	\N	\N	EFO	1	EFO	Familial flecked retinopathy	Familial drusen
Orphanet:98667	Orphanet:75376	\N	"" []	Orphanet:75376	"" []	222033	\N	\N	EFO	1	EFO	Disease predisposing to age-related macular degeneration	Familial drusen
Orphanet:98664	Orphanet:227786	\N	"" []	Orphanet:75376	"" []	578056	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Familial drusen
Orphanet:98657	Orphanet:98667	\N	"" []	Orphanet:75376	"" []	578057	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Familial drusen
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:75376	"" []	1161514	\N	\N	EFO	3	EFO	Retinal dystrophy	Familial drusen
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:75376	"" []	3195113	\N	\N	EFO	5	EFO	Rare genetic eye disease	Familial drusen
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:75376	"" []	2045011	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Familial drusen
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75376	"" []	4066986	\N	\N	EFO	6	EFO	genetic disorder	Familial drusen
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:75376	"" []	4066987	\N	\N	EFO	6	EFO	eye disease	Familial drusen
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75376	"" []	5060219	\N	\N	EFO	7	EFO	disease	Familial drusen
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75376	"" []	5060220	\N	\N	EFO	7	EFO	disease	Familial drusen
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75376	"" []	5877661	\N	\N	EFO	8	EFO	disposition	Familial drusen
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75376	"" []	6470892	\N	\N	EFO	9	EFO	material property	Familial drusen
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75376	"" []	6848762	\N	\N	EFO	10	EFO	experimental factor	Familial drusen
Orphanet:75377	\N	\N	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	77791	\N	\N	EFO	0	EFO	Central areolar choroidal dystrophy	Central areolar choroidal dystrophy
Orphanet:98665	Orphanet:75377	\N	"" []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	222034	\N	\N	EFO	1	EFO	Colobomatous and areolar dystrophy	Central areolar choroidal dystrophy
Orphanet:98664	Orphanet:98665	\N	"" []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	578058	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Central areolar choroidal dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	1161516	\N	\N	EFO	3	EFO	Retinal dystrophy	Central areolar choroidal dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	2045014	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Central areolar choroidal dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	3195116	\N	\N	EFO	5	EFO	Rare genetic eye disease	Central areolar choroidal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	4401055	\N	\N	EFO	6	EFO	genetic disorder	Central areolar choroidal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	4401056	\N	\N	EFO	6	EFO	eye disease	Central areolar choroidal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	5417534	\N	\N	EFO	7	EFO	disease	Central areolar choroidal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	5417535	\N	\N	EFO	7	EFO	disease	Central areolar choroidal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	6152522	\N	\N	EFO	8	EFO	disposition	Central areolar choroidal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	6634099	\N	\N	EFO	9	EFO	material property	Central areolar choroidal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75377	"Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." []	6926241	\N	\N	EFO	10	EFO	experimental factor	Central areolar choroidal dystrophy
Orphanet:75378	\N	\N	"" []	Orphanet:75378	"" []	77792	\N	\N	EFO	0	EFO	Oligocone trichromacy	Oligocone trichromacy
Orphanet:71862	Orphanet:75378	\N	"" []	Orphanet:75378	"" []	222035	\N	\N	EFO	1	EFO	Retinal dystrophy	Oligocone trichromacy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:75378	"" []	578059	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Oligocone trichromacy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:75378	"" []	1161517	\N	\N	EFO	3	EFO	Rare genetic eye disease	Oligocone trichromacy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75378	"" []	2045015	\N	\N	EFO	4	EFO	genetic disorder	Oligocone trichromacy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:75378	"" []	2045016	\N	\N	EFO	4	EFO	eye disease	Oligocone trichromacy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75378	"" []	3195117	\N	\N	EFO	5	EFO	disease	Oligocone trichromacy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75378	"" []	3195118	\N	\N	EFO	5	EFO	disease	Oligocone trichromacy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75378	"" []	4401057	\N	\N	EFO	6	EFO	disposition	Oligocone trichromacy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75378	"" []	5417536	\N	\N	EFO	7	EFO	material property	Oligocone trichromacy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75378	"" []	6152523	\N	\N	EFO	8	EFO	experimental factor	Oligocone trichromacy
Orphanet:75381	\N	\N	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	77793	\N	\N	EFO	0	EFO	Cystoid macular dystrophy	Cystoid macular dystrophy
Orphanet:98666	Orphanet:75381	\N	"" []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	222036	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Cystoid macular dystrophy
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	578060	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Cystoid macular dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	1161518	\N	\N	EFO	3	EFO	Retinal dystrophy	Cystoid macular dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	2045017	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Cystoid macular dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	3195119	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cystoid macular dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	4401058	\N	\N	EFO	6	EFO	genetic disorder	Cystoid macular dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	4401059	\N	\N	EFO	6	EFO	eye disease	Cystoid macular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	5417537	\N	\N	EFO	7	EFO	disease	Cystoid macular dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	5417538	\N	\N	EFO	7	EFO	disease	Cystoid macular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	6152524	\N	\N	EFO	8	EFO	disposition	Cystoid macular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	6634100	\N	\N	EFO	9	EFO	material property	Cystoid macular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75381	"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." []	6926242	\N	\N	EFO	10	EFO	experimental factor	Cystoid macular dystrophy
Orphanet:75382	\N	\N	"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." []	Orphanet:75382	"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." []	77794	\N	\N	EFO	0	EFO	Oguchi disease	Oguchi disease
Orphanet:71862	Orphanet:75382	\N	"" []	Orphanet:75382	"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." []	222037	\N	\N	EFO	1	EFO	Retinal dystrophy	Oguchi disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:75382	"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." []	578061	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Oguchi disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:75382	"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." []	1161519	\N	\N	EFO	3	EFO	Rare genetic eye disease	Oguchi disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75382	"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." []	2045018	\N	\N	EFO	4	EFO	genetic disorder	Oguchi disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:75382	"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." []	2045019	\N	\N	EFO	4	EFO	eye disease	Oguchi disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75382	"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." []	3195120	\N	\N	EFO	5	EFO	disease	Oguchi disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75382	"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." []	3195121	\N	\N	EFO	5	EFO	disease	Oguchi disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75382	"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." []	4401060	\N	\N	EFO	6	EFO	disposition	Oguchi disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75382	"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." []	5417539	\N	\N	EFO	7	EFO	material property	Oguchi disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75382	"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." []	6152525	\N	\N	EFO	8	EFO	experimental factor	Oguchi disease
Orphanet:75389	\N	\N	"" []	Orphanet:75389	"" []	77795	\N	\N	EFO	0	EFO	Brain malformation - congenital heart disease - postaxial polydactyly	Brain malformation - congenital heart disease - postaxial polydactyly
Orphanet:102283	Orphanet:75389	\N	"" []	Orphanet:75389	"" []	222038	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Brain malformation - congenital heart disease - postaxial polydactyly
Orphanet:156532	Orphanet:75389	\N	"" []	Orphanet:75389	"" []	222039	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Brain malformation - congenital heart disease - postaxial polydactyly
Orphanet:183763	Orphanet:75389	\N	"" []	Orphanet:75389	"" []	222040	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Brain malformation - congenital heart disease - postaxial polydactyly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:75389	"" []	578062	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Brain malformation - congenital heart disease - postaxial polydactyly
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:75389	"" []	578063	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Brain malformation - congenital heart disease - postaxial polydactyly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:75389	"" []	578064	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Brain malformation - congenital heart disease - postaxial polydactyly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:75389	"" []	1161520	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Brain malformation - congenital heart disease - postaxial polydactyly
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75389	"" []	1161521	\N	\N	EFO	3	EFO	genetic disorder	Brain malformation - congenital heart disease - postaxial polydactyly
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:75389	"" []	1161522	\N	\N	EFO	3	EFO	heart disease	Brain malformation - congenital heart disease - postaxial polydactyly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:75389	"" []	1161523	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Brain malformation - congenital heart disease - postaxial polydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75389	"" []	2045020	\N	\N	EFO	4	EFO	genetic disorder	Brain malformation - congenital heart disease - postaxial polydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75389	"" []	3195122	\N	\N	EFO	5	EFO	disease	Brain malformation - congenital heart disease - postaxial polydactyly
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:75389	"" []	2045022	\N	\N	EFO	4	EFO	cardiovascular disease	Brain malformation - congenital heart disease - postaxial polydactyly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75389	"" []	2045023	\N	\N	EFO	4	EFO	genetic disorder	Brain malformation - congenital heart disease - postaxial polydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75389	"" []	4134287	\N	\N	EFO	6	EFO	disposition	Brain malformation - congenital heart disease - postaxial polydactyly
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75389	"" []	3195124	\N	\N	EFO	5	EFO	disease	Brain malformation - congenital heart disease - postaxial polydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75389	"" []	5183223	\N	\N	EFO	7	EFO	material property	Brain malformation - congenital heart disease - postaxial polydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75389	"" []	5998564	\N	\N	EFO	8	EFO	experimental factor	Brain malformation - congenital heart disease - postaxial polydactyly
Orphanet:75391	\N	\N	"" []	Orphanet:75391	"" []	77796	\N	\N	EFO	0	EFO	Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Orphanet:101988	Orphanet:75391	\N	"" []	Orphanet:75391	"" []	222041	\N	\N	EFO	1	EFO	Primary immunodeficiency due to a defect in innate immunity	Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:75391	"" []	578065	\N	\N	EFO	2	EFO	Primary immunodeficiency	Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:75391	"" []	1161524	\N	\N	EFO	3	EFO	Rare genetic immune disease	Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75391	"" []	2045024	\N	\N	EFO	4	EFO	genetic disorder	Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:75391	"" []	2045025	\N	\N	EFO	4	EFO	immune system disease	Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75391	"" []	3195125	\N	\N	EFO	5	EFO	disease	Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75391	"" []	3195126	\N	\N	EFO	5	EFO	disease	Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75391	"" []	4401062	\N	\N	EFO	6	EFO	disposition	Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75391	"" []	5417541	\N	\N	EFO	7	EFO	material property	Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75391	"" []	6152526	\N	\N	EFO	8	EFO	experimental factor	Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Orphanet:75392	\N	\N	"" []	Orphanet:75392	"" []	77797	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, periodontitis type	Ehlers-Danlos syndrome, periodontitis type
Orphanet:98249	Orphanet:75392	\N	"" []	Orphanet:75392	"" []	222042	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, periodontitis type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:75392	"" []	578066	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, periodontitis type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:75392	"" []	578067	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, periodontitis type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:75392	"" []	578068	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, periodontitis type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:75392	"" []	578069	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, periodontitis type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:75392	"" []	1161525	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, periodontitis type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:75392	"" []	1161526	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, periodontitis type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:75392	"" []	1161527	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, periodontitis type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75392	"" []	1161528	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, periodontitis type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75392	"" []	2045026	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, periodontitis type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:75392	"" []	2045027	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, periodontitis type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75392	"" []	4401063	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, periodontitis type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75392	"" []	3195128	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, periodontitis type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:75392	"" []	3195129	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, periodontitis type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75392	"" []	5060221	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, periodontitis type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75392	"" []	4401064	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, periodontitis type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75392	"" []	5877662	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, periodontitis type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75392	"" []	6470893	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, periodontitis type
Orphanet:754	\N	\N	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	77798	\N	\N	EFO	0	EFO	Androgen insensitivity syndrome	Androgen insensitivity syndrome
Orphanet:325632	Orphanet:754	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	222043	\N	\N	EFO	1	EFO	46,XY disorder of sex development of gynecological interest	Androgen insensitivity syndrome
Orphanet:325713	Orphanet:754	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	222044	\N	\N	EFO	1	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Androgen insensitivity syndrome
Orphanet:399685	Orphanet:754	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	222045	\N	\N	EFO	1	EFO	Rare male infertility due to testicular endocrine disorder	Androgen insensitivity syndrome
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	578070	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Androgen insensitivity syndrome
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	578071	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Androgen insensitivity syndrome
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	578072	\N	\N	EFO	2	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Androgen insensitivity syndrome
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	1161529	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Androgen insensitivity syndrome
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	1161530	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Androgen insensitivity syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	1161531	\N	\N	EFO	3	EFO	Rare genetic male infertility	Androgen insensitivity syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	2045029	\N	\N	EFO	4	EFO	genetic disorder	Androgen insensitivity syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	2045030	\N	\N	EFO	4	EFO	reproductive system disease	Androgen insensitivity syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	2045031	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Androgen insensitivity syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	2045032	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Androgen insensitivity syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	2045033	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Androgen insensitivity syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	2045034	\N	\N	EFO	4	EFO	Genetic infertility	Androgen insensitivity syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	4401067	\N	\N	EFO	6	EFO	disease	Androgen insensitivity syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	4401069	\N	\N	EFO	6	EFO	disease	Androgen insensitivity syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	3195133	\N	\N	EFO	5	EFO	genetic disorder	Androgen insensitivity syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	3195134	\N	\N	EFO	5	EFO	genetic disorder	Androgen insensitivity syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	3195135	\N	\N	EFO	5	EFO	endocrine system disease	Androgen insensitivity syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	3195136	\N	\N	EFO	5	EFO	genetic disorder	Androgen insensitivity syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	3195137	\N	\N	EFO	5	EFO	genetic disorder	Androgen insensitivity syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	3195138	\N	\N	EFO	5	EFO	reproductive system disease	Androgen insensitivity syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	5183225	\N	\N	EFO	7	EFO	disposition	Androgen insensitivity syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	4401068	\N	\N	EFO	6	EFO	disease	Androgen insensitivity syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	5998566	\N	\N	EFO	8	EFO	material property	Androgen insensitivity syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:754	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	6551658	\N	\N	EFO	9	EFO	experimental factor	Androgen insensitivity syndrome
Orphanet:75496	\N	\N	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	77799	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, progeroid type	Ehlers-Danlos syndrome, progeroid type
Orphanet:309450	Orphanet:75496	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	222046	\N	\N	EFO	1	EFO	Disorder of O-xylosylglycan synthesis	Ehlers-Danlos syndrome, progeroid type
Orphanet:371195	Orphanet:75496	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	222047	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation-related bone disorder	Ehlers-Danlos syndrome, progeroid type
Orphanet:371200	Orphanet:75496	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	222048	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	Ehlers-Danlos syndrome, progeroid type
Orphanet:93446	Orphanet:75496	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	222049	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Ehlers-Danlos syndrome, progeroid type
Orphanet:98249	Orphanet:75496	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	222050	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, progeroid type
Orphanet:309447	Orphanet:309450	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	578073	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Ehlers-Danlos syndrome, progeroid type
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	578074	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Ehlers-Danlos syndrome, progeroid type
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	578075	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Ehlers-Danlos syndrome, progeroid type
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	578076	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Ehlers-Danlos syndrome, progeroid type
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	578077	\N	\N	EFO	2	EFO	Primary bone dysplasia	Ehlers-Danlos syndrome, progeroid type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	578078	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, progeroid type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	578079	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, progeroid type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	578080	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, progeroid type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	578081	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, progeroid type
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	1161532	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Ehlers-Danlos syndrome, progeroid type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	1161533	\N	\N	EFO	3	EFO	Rare genetic bone disease	Ehlers-Danlos syndrome, progeroid type
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	1161534	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Ehlers-Danlos syndrome, progeroid type
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	1161535	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, progeroid type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	1161536	\N	\N	EFO	3	EFO	Rare genetic bone disease	Ehlers-Danlos syndrome, progeroid type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	1161537	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Ehlers-Danlos syndrome, progeroid type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	1161538	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, progeroid type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	1161539	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, progeroid type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	1161540	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, progeroid type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	1161541	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, progeroid type
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	2045035	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Ehlers-Danlos syndrome, progeroid type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	2045036	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, progeroid type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	2045037	\N	\N	EFO	4	EFO	bone disease	Ehlers-Danlos syndrome, progeroid type
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	2045038	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, progeroid type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	3195145	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, progeroid type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	3195146	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, progeroid type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	2045041	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, progeroid type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	3195143	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, progeroid type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	2045043	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, progeroid type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	4134289	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, progeroid type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	3195139	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, progeroid type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	3195140	\N	\N	EFO	5	EFO	metabolic disease	Ehlers-Danlos syndrome, progeroid type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	3195142	\N	\N	EFO	5	EFO	skeletal system disease	Ehlers-Danlos syndrome, progeroid type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	4134290	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, progeroid type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	5060222	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, progeroid type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	4401070	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, progeroid type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	4401071	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, progeroid type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	5877663	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, progeroid type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75496	"Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." []	6470894	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, progeroid type
Orphanet:75497	\N	\N	"" []	Orphanet:75497	"" []	77800	\N	\N	EFO	0	EFO	X-linked Ehlers-Danlos syndrome	X-linked Ehlers-Danlos syndrome
Orphanet:98249	Orphanet:75497	\N	"" []	Orphanet:75497	"" []	222051	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	X-linked Ehlers-Danlos syndrome
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:75497	"" []	578082	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	X-linked Ehlers-Danlos syndrome
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:75497	"" []	578083	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	X-linked Ehlers-Danlos syndrome
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:75497	"" []	578084	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	X-linked Ehlers-Danlos syndrome
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:75497	"" []	578085	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	X-linked Ehlers-Danlos syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:75497	"" []	1161542	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked Ehlers-Danlos syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:75497	"" []	1161543	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked Ehlers-Danlos syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:75497	"" []	1161544	\N	\N	EFO	3	EFO	Genetic dermis disorder	X-linked Ehlers-Danlos syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75497	"" []	1161545	\N	\N	EFO	3	EFO	genetic disorder	X-linked Ehlers-Danlos syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75497	"" []	2045045	\N	\N	EFO	4	EFO	genetic disorder	X-linked Ehlers-Danlos syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:75497	"" []	2045046	\N	\N	EFO	4	EFO	Rare genetic skin disease	X-linked Ehlers-Danlos syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75497	"" []	4401073	\N	\N	EFO	6	EFO	disease	X-linked Ehlers-Danlos syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75497	"" []	3195149	\N	\N	EFO	5	EFO	genetic disorder	X-linked Ehlers-Danlos syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:75497	"" []	3195150	\N	\N	EFO	5	EFO	skin disease	X-linked Ehlers-Danlos syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75497	"" []	5060223	\N	\N	EFO	7	EFO	disposition	X-linked Ehlers-Danlos syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75497	"" []	4401074	\N	\N	EFO	6	EFO	disease	X-linked Ehlers-Danlos syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75497	"" []	5877664	\N	\N	EFO	8	EFO	material property	X-linked Ehlers-Danlos syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75497	"" []	6470895	\N	\N	EFO	9	EFO	experimental factor	X-linked Ehlers-Danlos syndrome
Orphanet:755	\N	\N	"" []	Orphanet:755	"" []	77801	\N	\N	EFO	0	EFO	Leydig cell hypoplasia	Leydig cell hypoplasia
Orphanet:325357	Orphanet:755	\N	"" []	Orphanet:755	"" []	222052	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to impaired androgen production	Leydig cell hypoplasia
Orphanet:399685	Orphanet:755	\N	"" []	Orphanet:755	"" []	222053	\N	\N	EFO	1	EFO	Rare male infertility due to testicular endocrine disorder	Leydig cell hypoplasia
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:755	"" []	578086	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Leydig cell hypoplasia
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:755	"" []	578087	\N	\N	EFO	2	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Leydig cell hypoplasia
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:755	"" []	1161546	\N	\N	EFO	3	EFO	Genetic 46,XY disorder of sex development	Leydig cell hypoplasia
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:755	"" []	1161547	\N	\N	EFO	3	EFO	Rare genetic male infertility	Leydig cell hypoplasia
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:755	"" []	2045048	\N	\N	EFO	4	EFO	Genetic disorder of sex development	Leydig cell hypoplasia
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:755	"" []	2045049	\N	\N	EFO	4	EFO	Genetic infertility	Leydig cell hypoplasia
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:755	"" []	3195152	\N	\N	EFO	5	EFO	Rare genetic urogenital disease	Leydig cell hypoplasia
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:755	"" []	3195153	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Leydig cell hypoplasia
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:755	"" []	3195154	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Leydig cell hypoplasia
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:755	"" []	3195155	\N	\N	EFO	5	EFO	genetic disorder	Leydig cell hypoplasia
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:755	"" []	3195156	\N	\N	EFO	5	EFO	reproductive system disease	Leydig cell hypoplasia
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:755	"" []	4401076	\N	\N	EFO	6	EFO	genetic disorder	Leydig cell hypoplasia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:755	"" []	4401077	\N	\N	EFO	6	EFO	genetic disorder	Leydig cell hypoplasia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:755	"" []	4401078	\N	\N	EFO	6	EFO	endocrine system disease	Leydig cell hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:755	"" []	4401079	\N	\N	EFO	6	EFO	genetic disorder	Leydig cell hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:755	"" []	5417546	\N	\N	EFO	7	EFO	disease	Leydig cell hypoplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:755	"" []	4401081	\N	\N	EFO	6	EFO	disease	Leydig cell hypoplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:755	"" []	5417547	\N	\N	EFO	7	EFO	disease	Leydig cell hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:755	"" []	5998569	\N	\N	EFO	8	EFO	disposition	Leydig cell hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:755	"" []	6551659	\N	\N	EFO	9	EFO	material property	Leydig cell hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:755	"" []	6889515	\N	\N	EFO	10	EFO	experimental factor	Leydig cell hypoplasia
Orphanet:75501	\N	\N	"" []	Orphanet:75501	"" []	77802	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome, fibronectinemic type	Ehlers-Danlos syndrome, fibronectinemic type
Orphanet:98249	Orphanet:75501	\N	"" []	Orphanet:75501	"" []	222054	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, fibronectinemic type
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:75501	"" []	578088	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome, fibronectinemic type
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:75501	"" []	578089	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome, fibronectinemic type
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:75501	"" []	578090	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome, fibronectinemic type
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:75501	"" []	578091	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome, fibronectinemic type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:75501	"" []	1161548	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, fibronectinemic type
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:75501	"" []	1161549	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome, fibronectinemic type
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:75501	"" []	1161550	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome, fibronectinemic type
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75501	"" []	1161551	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome, fibronectinemic type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75501	"" []	2045050	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome, fibronectinemic type
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:75501	"" []	2045051	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome, fibronectinemic type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75501	"" []	4401082	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, fibronectinemic type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75501	"" []	3195158	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome, fibronectinemic type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:75501	"" []	3195159	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome, fibronectinemic type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75501	"" []	5060224	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome, fibronectinemic type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75501	"" []	4401083	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome, fibronectinemic type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75501	"" []	5877665	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome, fibronectinemic type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75501	"" []	6470896	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome, fibronectinemic type
Orphanet:75508	\N	\N	"" []	Orphanet:75508	"" []	77803	\N	\N	EFO	0	EFO	Angioosteohypotrophic syndrome	Angioosteohypotrophic syndrome
Orphanet:235832	Orphanet:75508	\N	"" []	Orphanet:75508	"" []	222055	\N	\N	EFO	1	EFO	Congenital vascular bone syndrome	Angioosteohypotrophic syndrome
Orphanet:183524	Orphanet:235832	\N	"" []	Orphanet:75508	"" []	578092	\N	\N	EFO	2	EFO	Rare genetic bone disease	Angioosteohypotrophic syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75508	"" []	1161552	\N	\N	EFO	3	EFO	genetic disorder	Angioosteohypotrophic syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:75508	"" []	1161553	\N	\N	EFO	3	EFO	bone disease	Angioosteohypotrophic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75508	"" []	2045053	\N	\N	EFO	4	EFO	disease	Angioosteohypotrophic syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:75508	"" []	2045054	\N	\N	EFO	4	EFO	skeletal system disease	Angioosteohypotrophic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75508	"" []	4401086	\N	\N	EFO	6	EFO	disposition	Angioosteohypotrophic syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75508	"" []	3195162	\N	\N	EFO	5	EFO	disease	Angioosteohypotrophic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75508	"" []	5183229	\N	\N	EFO	7	EFO	material property	Angioosteohypotrophic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75508	"" []	5998571	\N	\N	EFO	8	EFO	experimental factor	Angioosteohypotrophic syndrome
Orphanet:75563	\N	\N	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	77804	\N	\N	EFO	0	EFO	X-linked sideroblastic anemia	X-linked sideroblastic anemia
Orphanet:309813	Orphanet:75563	\N	"" []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	222056	\N	\N	EFO	1	EFO	Disorder of porphyrin and haem metabolism	X-linked sideroblastic anemia
Orphanet:98362	Orphanet:75563	\N	"" []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	222057	\N	\N	EFO	1	EFO	Constitutional sideroblastic anemia	X-linked sideroblastic anemia
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	578093	\N	\N	EFO	2	EFO	Inborn errors of metabolism	X-linked sideroblastic anemia
Orphanet:183651	Orphanet:98362	\N	"" []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	578094	\N	\N	EFO	2	EFO	Rare constitutional anemia	X-linked sideroblastic anemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	1161554	\N	\N	EFO	3	EFO	genetic disorder	X-linked sideroblastic anemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	1161555	\N	\N	EFO	3	EFO	metabolic disease	X-linked sideroblastic anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	1161556	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	X-linked sideroblastic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	3195164	\N	\N	EFO	5	EFO	disease	X-linked sideroblastic anemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	2045056	\N	\N	EFO	4	EFO	disease	X-linked sideroblastic anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	2045057	\N	\N	EFO	4	EFO	genetic disorder	X-linked sideroblastic anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	2045058	\N	\N	EFO	4	EFO	hematological system disease	X-linked sideroblastic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	4134294	\N	\N	EFO	6	EFO	disposition	X-linked sideroblastic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	3195165	\N	\N	EFO	5	EFO	disease	X-linked sideroblastic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	5183230	\N	\N	EFO	7	EFO	material property	X-linked sideroblastic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75563	"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." []	5998572	\N	\N	EFO	8	EFO	experimental factor	X-linked sideroblastic anemia
Orphanet:756	\N	\N	"Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." []	Orphanet:756	"Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." []	77805	\N	\N	EFO	0	EFO	Pseudohypoaldosteronism type 1	Pseudohypoaldosteronism type 1
Orphanet:183592	Orphanet:756	\N	"" []	Orphanet:756	"Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." []	222058	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Pseudohypoaldosteronism type 1
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:756	"Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." []	578095	\N	\N	EFO	2	EFO	Rare genetic renal disease	Pseudohypoaldosteronism type 1
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:756	"Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." []	1161557	\N	\N	EFO	3	EFO	genetic disorder	Pseudohypoaldosteronism type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:756	"Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." []	2045059	\N	\N	EFO	4	EFO	disease	Pseudohypoaldosteronism type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:756	"Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." []	3195166	\N	\N	EFO	5	EFO	disposition	Pseudohypoaldosteronism type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:756	"Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." []	4401088	\N	\N	EFO	6	EFO	material property	Pseudohypoaldosteronism type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:756	"Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." []	5417552	\N	\N	EFO	7	EFO	experimental factor	Pseudohypoaldosteronism type 1
Orphanet:757	\N	\N	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	Orphanet:757	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	77806	\N	\N	EFO	0	EFO	Pseudohypoaldosteronism type 2	Pseudohypoaldosteronism type 2
Orphanet:156629	Orphanet:757	\N	"" []	Orphanet:757	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	222059	\N	\N	EFO	1	EFO	Genetic hypertension	Pseudohypoaldosteronism type 2
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:757	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	578096	\N	\N	EFO	2	EFO	Rare genetic renal disease	Pseudohypoaldosteronism type 2
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:757	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	1161558	\N	\N	EFO	3	EFO	genetic disorder	Pseudohypoaldosteronism type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:757	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	2045060	\N	\N	EFO	4	EFO	disease	Pseudohypoaldosteronism type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:757	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	3195167	\N	\N	EFO	5	EFO	disposition	Pseudohypoaldosteronism type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:757	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	4401089	\N	\N	EFO	6	EFO	material property	Pseudohypoaldosteronism type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:757	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	5417553	\N	\N	EFO	7	EFO	experimental factor	Pseudohypoaldosteronism type 2
Orphanet:758	\N	\N	"" []	Orphanet:758	"" []	77807	\N	\N	EFO	0	EFO	Pseudoxanthoma elasticum	Pseudoxanthoma elasticum
Orphanet:139027	Orphanet:758	\N	"" []	Orphanet:758	"" []	222060	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Pseudoxanthoma elasticum
Orphanet:139030	Orphanet:758	\N	"" []	Orphanet:758	"" []	222061	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Pseudoxanthoma elasticum
Orphanet:156629	Orphanet:758	\N	"" []	Orphanet:758	"" []	222062	\N	\N	EFO	1	EFO	Genetic hypertension	Pseudoxanthoma elasticum
Orphanet:217635	Orphanet:758	\N	"" []	Orphanet:758	"" []	222063	\N	\N	EFO	1	EFO	Familial restrictive cardiomyopathy	Pseudoxanthoma elasticum
Orphanet:228215	Orphanet:758	\N	"" []	Orphanet:758	"" []	222064	\N	\N	EFO	1	EFO	Genetic dermis elastic tissue disorder	Pseudoxanthoma elasticum
Orphanet:98702	Orphanet:758	\N	"" []	Orphanet:758	"" []	222065	\N	\N	EFO	1	EFO	Connective tissue disease with eye involvement	Pseudoxanthoma elasticum
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:758	"" []	578097	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Pseudoxanthoma elasticum
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:758	"" []	578098	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Pseudoxanthoma elasticum
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:758	"" []	578099	\N	\N	EFO	2	EFO	Rare genetic renal disease	Pseudoxanthoma elasticum
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:758	"" []	578100	\N	\N	EFO	2	EFO	cardiomyopathy	Pseudoxanthoma elasticum
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:758	"" []	578101	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Pseudoxanthoma elasticum
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:758	"" []	578102	\N	\N	EFO	2	EFO	Genetic dermis disorder	Pseudoxanthoma elasticum
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	Orphanet:758	"" []	578103	\N	\N	EFO	2	EFO	connective tissue disease	Pseudoxanthoma elasticum
Orphanet:101435	Orphanet:98702	\N	"" []	Orphanet:758	"" []	578104	\N	\N	EFO	2	EFO	Rare genetic eye disease	Pseudoxanthoma elasticum
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:758	"" []	1161559	\N	\N	EFO	3	EFO	genetic disorder	Pseudoxanthoma elasticum
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:758	"" []	1161560	\N	\N	EFO	3	EFO	genetic disorder	Pseudoxanthoma elasticum
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:758	"" []	1161561	\N	\N	EFO	3	EFO	heart disease	Pseudoxanthoma elasticum
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:758	"" []	1161562	\N	\N	EFO	3	EFO	genetic disorder	Pseudoxanthoma elasticum
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:758	"" []	1161563	\N	\N	EFO	3	EFO	heart disease	Pseudoxanthoma elasticum
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:758	"" []	1161564	\N	\N	EFO	3	EFO	Rare genetic skin disease	Pseudoxanthoma elasticum
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	Orphanet:758	"" []	1161565	\N	\N	EFO	3	EFO	skeletal system disease	Pseudoxanthoma elasticum
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:758	"" []	1161566	\N	\N	EFO	3	EFO	genetic disorder	Pseudoxanthoma elasticum
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:758	"" []	1161567	\N	\N	EFO	3	EFO	eye disease	Pseudoxanthoma elasticum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:758	"" []	3195170	\N	\N	EFO	5	EFO	disease	Pseudoxanthoma elasticum
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:758	"" []	2045062	\N	\N	EFO	4	EFO	cardiovascular disease	Pseudoxanthoma elasticum
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:758	"" []	2045063	\N	\N	EFO	4	EFO	genetic disorder	Pseudoxanthoma elasticum
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:758	"" []	2045064	\N	\N	EFO	4	EFO	skin disease	Pseudoxanthoma elasticum
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:758	"" []	2045065	\N	\N	EFO	4	EFO	disease	Pseudoxanthoma elasticum
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:758	"" []	2045066	\N	\N	EFO	4	EFO	disease	Pseudoxanthoma elasticum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:758	"" []	4134295	\N	\N	EFO	6	EFO	disposition	Pseudoxanthoma elasticum
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:758	"" []	3195169	\N	\N	EFO	5	EFO	disease	Pseudoxanthoma elasticum
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:758	"" []	3195171	\N	\N	EFO	5	EFO	disease	Pseudoxanthoma elasticum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:758	"" []	5183231	\N	\N	EFO	7	EFO	material property	Pseudoxanthoma elasticum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:758	"" []	5998573	\N	\N	EFO	8	EFO	experimental factor	Pseudoxanthoma elasticum
Orphanet:75840	\N	\N	"" []	Orphanet:75840	"" []	77808	\N	\N	EFO	0	EFO	Congenital muscular dystrophy, Ullrich type	Congenital muscular dystrophy, Ullrich type
Orphanet:207090	Orphanet:75840	\N	"" []	Orphanet:75840	"" []	222066	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of collagen 6	Congenital muscular dystrophy, Ullrich type
Orphanet:97242	Orphanet:75840	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:75840	"" []	222067	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy, Ullrich type
Orphanet:207049	Orphanet:207090	\N	"" []	Orphanet:75840	"" []	578105	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Congenital muscular dystrophy, Ullrich type
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:75840	"" []	578106	\N	\N	EFO	2	EFO	Muscular dystrophy	Congenital muscular dystrophy, Ullrich type
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:75840	"" []	1161568	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy, Ullrich type
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:75840	"" []	1161569	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy, Ullrich type
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:75840	"" []	3195174	\N	\N	EFO	5	EFO	muscular disease	Congenital muscular dystrophy, Ullrich type
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:75840	"" []	3195175	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy, Ullrich type
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:75840	"" []	2045069	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy, Ullrich type
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:75840	"" []	4134296	\N	\N	EFO	6	EFO	skeletal system disease	Congenital muscular dystrophy, Ullrich type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75840	"" []	4134297	\N	\N	EFO	6	EFO	genetic disorder	Congenital muscular dystrophy, Ullrich type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75840	"" []	5183232	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy, Ullrich type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75840	"" []	5183233	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy, Ullrich type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75840	"" []	5998574	\N	\N	EFO	8	EFO	disposition	Congenital muscular dystrophy, Ullrich type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75840	"" []	6551660	\N	\N	EFO	9	EFO	material property	Congenital muscular dystrophy, Ullrich type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75840	"" []	6889516	\N	\N	EFO	10	EFO	experimental factor	Congenital muscular dystrophy, Ullrich type
Orphanet:75857	\N	\N	"" []	Orphanet:75857	"" []	77809	\N	\N	EFO	0	EFO	6q terminal deletion syndrome	6q terminal deletion syndrome
Orphanet:117573	Orphanet:75857	\N	"" []	Orphanet:75857	"" []	222068	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	6q terminal deletion syndrome
Orphanet:262047	Orphanet:75857	\N	"" []	Orphanet:75857	"" []	222069	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 6	6q terminal deletion syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:75857	"" []	578107	\N	\N	EFO	2	EFO	Anorectal malformation	6q terminal deletion syndrome
Orphanet:261791	Orphanet:262047	\N	"" []	Orphanet:75857	"" []	578108	\N	\N	EFO	2	EFO	Partial deletion of chromosome 6	6q terminal deletion syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:75857	"" []	1161570	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	6q terminal deletion syndrome
Orphanet:98142	Orphanet:261791	\N	"" []	Orphanet:75857	"" []	1161571	\N	\N	EFO	3	EFO	Partial autosomal monosomy	6q terminal deletion syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:75857	"" []	2045070	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	6q terminal deletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:75857	"" []	2045071	\N	\N	EFO	4	EFO	Autosomal monosomy	6q terminal deletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75857	"" []	3195176	\N	\N	EFO	5	EFO	genetic disorder	6q terminal deletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:75857	"" []	3195177	\N	\N	EFO	5	EFO	Autosomal anomaly	6q terminal deletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75857	"" []	6152531	\N	\N	EFO	8	EFO	disease	6q terminal deletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:75857	"" []	4401094	\N	\N	EFO	6	EFO	Chromosomal anomaly	6q terminal deletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75857	"" []	6470897	\N	\N	EFO	9	EFO	disposition	6q terminal deletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75857	"" []	5417557	\N	\N	EFO	7	EFO	genetic disorder	6q terminal deletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75857	"" []	6848763	\N	\N	EFO	10	EFO	material property	6q terminal deletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75857	"" []	7068528	\N	\N	EFO	11	EFO	experimental factor	6q terminal deletion syndrome
Orphanet:75858	\N	\N	"" []	Orphanet:75858	"" []	77810	\N	\N	EFO	0	EFO	MORM syndrome	MORM syndrome
Orphanet:240371	Orphanet:75858	\N	"" []	Orphanet:75858	"" []	222070	\N	\N	EFO	1	EFO	Syndromic obesity	MORM syndrome
Orphanet:71862	Orphanet:75858	\N	"" []	Orphanet:75858	"" []	222071	\N	\N	EFO	1	EFO	Retinal dystrophy	MORM syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:75858	"" []	578109	\N	\N	EFO	2	EFO	Genetic obesity	MORM syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:75858	"" []	578110	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	MORM syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:75858	"" []	1161572	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	MORM syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:75858	"" []	1161573	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	MORM syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:75858	"" []	1161574	\N	\N	EFO	3	EFO	Rare genetic eye disease	MORM syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75858	"" []	2045072	\N	\N	EFO	4	EFO	genetic disorder	MORM syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:75858	"" []	2045073	\N	\N	EFO	4	EFO	endocrine system disease	MORM syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:75858	"" []	2045074	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	MORM syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75858	"" []	2045075	\N	\N	EFO	4	EFO	genetic disorder	MORM syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:75858	"" []	2045076	\N	\N	EFO	4	EFO	eye disease	MORM syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75858	"" []	4401096	\N	\N	EFO	6	EFO	disease	MORM syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75858	"" []	3195179	\N	\N	EFO	5	EFO	disease	MORM syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:75858	"" []	3195180	\N	\N	EFO	5	EFO	genetic disorder	MORM syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:75858	"" []	3195181	\N	\N	EFO	5	EFO	disease	MORM syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:75858	"" []	5183234	\N	\N	EFO	7	EFO	disposition	MORM syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:75858	"" []	5998575	\N	\N	EFO	8	EFO	material property	MORM syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:75858	"" []	6551661	\N	\N	EFO	9	EFO	experimental factor	MORM syndrome
Orphanet:760	\N	\N	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	77811	\N	\N	EFO	0	EFO	Purine nucleoside phosphorylase deficiency	Purine nucleoside phosphorylase deficiency
Orphanet:101972	Orphanet:760	\N	"" []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	222072	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Purine nucleoside phosphorylase deficiency
Orphanet:79191	Orphanet:760	\N	"" []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	222073	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Purine nucleoside phosphorylase deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	578111	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Purine nucleoside phosphorylase deficiency
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	578112	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Purine nucleoside phosphorylase deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	1161575	\N	\N	EFO	3	EFO	Primary immunodeficiency	Purine nucleoside phosphorylase deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	1161576	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Purine nucleoside phosphorylase deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	2045077	\N	\N	EFO	4	EFO	Rare genetic immune disease	Purine nucleoside phosphorylase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	2045078	\N	\N	EFO	4	EFO	genetic disorder	Purine nucleoside phosphorylase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	2045079	\N	\N	EFO	4	EFO	metabolic disease	Purine nucleoside phosphorylase deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	3195182	\N	\N	EFO	5	EFO	genetic disorder	Purine nucleoside phosphorylase deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	3195183	\N	\N	EFO	5	EFO	immune system disease	Purine nucleoside phosphorylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	4401097	\N	\N	EFO	6	EFO	disease	Purine nucleoside phosphorylase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	3195185	\N	\N	EFO	5	EFO	disease	Purine nucleoside phosphorylase deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	4401098	\N	\N	EFO	6	EFO	disease	Purine nucleoside phosphorylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	5183235	\N	\N	EFO	7	EFO	disposition	Purine nucleoside phosphorylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	5998576	\N	\N	EFO	8	EFO	material property	Purine nucleoside phosphorylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:760	"Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." []	6551662	\N	\N	EFO	9	EFO	experimental factor	Purine nucleoside phosphorylase deficiency
Orphanet:763	\N	\N	"" []	Orphanet:763	"" []	77812	\N	\N	EFO	0	EFO	Pycnodysostosis	Pycnodysostosis
Orphanet:2781	Orphanet:763	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:763	"" []	222074	\N	\N	EFO	1	EFO	Osteopetrosis	Pycnodysostosis
Orphanet:68366	Orphanet:763	\N	"" []	Orphanet:763	"" []	222075	\N	\N	EFO	1	EFO	Lysosomal disease	Pycnodysostosis
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:763	"" []	578113	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Pycnodysostosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:763	"" []	578114	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Pycnodysostosis
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:763	"" []	1161577	\N	\N	EFO	3	EFO	Primary bone dysplasia	Pycnodysostosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:763	"" []	1161578	\N	\N	EFO	3	EFO	genetic disorder	Pycnodysostosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:763	"" []	1161579	\N	\N	EFO	3	EFO	metabolic disease	Pycnodysostosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:763	"" []	2045080	\N	\N	EFO	4	EFO	Rare genetic bone disease	Pycnodysostosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:763	"" []	2045081	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Pycnodysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:763	"" []	5417561	\N	\N	EFO	7	EFO	disease	Pycnodysostosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:763	"" []	2045083	\N	\N	EFO	4	EFO	disease	Pycnodysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:763	"" []	3195186	\N	\N	EFO	5	EFO	genetic disorder	Pycnodysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:763	"" []	3195187	\N	\N	EFO	5	EFO	bone disease	Pycnodysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:763	"" []	3195188	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pycnodysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:763	"" []	5817838	\N	\N	EFO	8	EFO	disposition	Pycnodysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:763	"" []	4401101	\N	\N	EFO	6	EFO	skeletal system disease	Pycnodysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:763	"" []	4401102	\N	\N	EFO	6	EFO	genetic disorder	Pycnodysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:763	"" []	6410319	\N	\N	EFO	9	EFO	material property	Pycnodysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:763	"" []	5417560	\N	\N	EFO	7	EFO	disease	Pycnodysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:763	"" []	6808140	\N	\N	EFO	10	EFO	experimental factor	Pycnodysostosis
Orphanet:765	\N	\N	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	77813	\N	\N	EFO	0	EFO	Pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase deficiency
Orphanet:182076	Orphanet:765	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	222076	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Pyruvate dehydrogenase deficiency
Orphanet:225703	Orphanet:765	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	222077	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	Pyruvate dehydrogenase deficiency
Orphanet:254746	Orphanet:765	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	222078	\N	\N	EFO	1	EFO	Pyruvate metabolism disorder	Pyruvate dehydrogenase deficiency
Orphanet:68380	Orphanet:765	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	222079	\N	\N	EFO	1	EFO	Mitochondrial disease	Pyruvate dehydrogenase deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	578115	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Pyruvate dehydrogenase deficiency
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	578116	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Pyruvate dehydrogenase deficiency
Orphanet:79200	Orphanet:254746	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	578117	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	578118	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Pyruvate dehydrogenase deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	578119	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	1161580	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Pyruvate dehydrogenase deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	1161581	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Pyruvate dehydrogenase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	1161582	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Pyruvate dehydrogenase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	1161583	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pyruvate dehydrogenase deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	2045084	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Pyruvate dehydrogenase deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	2045085	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Pyruvate dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	2045086	\N	\N	EFO	4	EFO	genetic disorder	Pyruvate dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	2045087	\N	\N	EFO	4	EFO	metabolic disease	Pyruvate dehydrogenase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	2045088	\N	\N	EFO	4	EFO	genetic disorder	Pyruvate dehydrogenase deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	3195190	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	3195191	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	5417563	\N	\N	EFO	7	EFO	disease	Pyruvate dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	3195193	\N	\N	EFO	5	EFO	disease	Pyruvate dehydrogenase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	4401104	\N	\N	EFO	6	EFO	genetic disorder	Pyruvate dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	5877667	\N	\N	EFO	8	EFO	disposition	Pyruvate dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	6470899	\N	\N	EFO	9	EFO	material property	Pyruvate dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:765	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	6848764	\N	\N	EFO	10	EFO	experimental factor	Pyruvate dehydrogenase deficiency
Orphanet:766	\N	\N	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	77814	\N	\N	EFO	0	EFO	Hemolytic anemia due to red cell pyruvate kinase deficiency	Hemolytic anemia due to red cell pyruvate kinase deficiency
Orphanet:254746	Orphanet:766	\N	"" []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	222080	\N	\N	EFO	1	EFO	Pyruvate metabolism disorder	Hemolytic anemia due to red cell pyruvate kinase deficiency
Orphanet:98372	Orphanet:766	\N	"" []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	222081	\N	\N	EFO	1	EFO	Hemolytic anemia due to a disorder of glycolytic enzymes	Hemolytic anemia due to red cell pyruvate kinase deficiency
Orphanet:79200	Orphanet:254746	\N	"" []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	578120	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Hemolytic anemia due to red cell pyruvate kinase deficiency
Orphanet:98369	Orphanet:98372	\N	"" []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	578121	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Hemolytic anemia due to red cell pyruvate kinase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	1161584	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hemolytic anemia due to red cell pyruvate kinase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	1161585	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Hemolytic anemia due to red cell pyruvate kinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	2045089	\N	\N	EFO	4	EFO	genetic disorder	Hemolytic anemia due to red cell pyruvate kinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	2045090	\N	\N	EFO	4	EFO	metabolic disease	Hemolytic anemia due to red cell pyruvate kinase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	2045091	\N	\N	EFO	4	EFO	Rare constitutional anemia	Hemolytic anemia due to red cell pyruvate kinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	5417566	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to red cell pyruvate kinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	3195195	\N	\N	EFO	5	EFO	disease	Hemolytic anemia due to red cell pyruvate kinase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	3195196	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Hemolytic anemia due to red cell pyruvate kinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	5877668	\N	\N	EFO	8	EFO	disposition	Hemolytic anemia due to red cell pyruvate kinase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	4401107	\N	\N	EFO	6	EFO	genetic disorder	Hemolytic anemia due to red cell pyruvate kinase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	4401108	\N	\N	EFO	6	EFO	hematological system disease	Hemolytic anemia due to red cell pyruvate kinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	6470900	\N	\N	EFO	9	EFO	material property	Hemolytic anemia due to red cell pyruvate kinase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	5417567	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to red cell pyruvate kinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:766	"Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." []	6848765	\N	\N	EFO	10	EFO	experimental factor	Hemolytic anemia due to red cell pyruvate kinase deficiency
Orphanet:768	\N	\N	"" []	Orphanet:768	"" []	77815	\N	\N	EFO	0	EFO	Familial long QT syndrome	Familial long QT syndrome
Orphanet:101934	Orphanet:768	\N	"" []	Orphanet:768	"" []	222082	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Familial long QT syndrome
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:768	"" []	578122	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Familial long QT syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:768	"" []	1161586	\N	\N	EFO	3	EFO	genetic disorder	Familial long QT syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:768	"" []	1161587	\N	\N	EFO	3	EFO	heart disease	Familial long QT syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:768	"" []	2045092	\N	\N	EFO	4	EFO	disease	Familial long QT syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:768	"" []	2045093	\N	\N	EFO	4	EFO	cardiovascular disease	Familial long QT syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:768	"" []	4401110	\N	\N	EFO	6	EFO	disposition	Familial long QT syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:768	"" []	3195198	\N	\N	EFO	5	EFO	disease	Familial long QT syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:768	"" []	5183236	\N	\N	EFO	7	EFO	material property	Familial long QT syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:768	"" []	5998577	\N	\N	EFO	8	EFO	experimental factor	Familial long QT syndrome
Orphanet:769	\N	\N	"" []	Orphanet:769	"" []	77816	\N	\N	EFO	0	EFO	Rabson-Mendenhall syndrome	Rabson-Mendenhall syndrome
Orphanet:181368	Orphanet:769	\N	"" []	Orphanet:769	"" []	222083	\N	\N	EFO	1	EFO	Rare insulin-resistance syndrome	Rabson-Mendenhall syndrome
Orphanet:79365	Orphanet:769	\N	"" []	Orphanet:769	"" []	222084	\N	\N	EFO	1	EFO	Hypertrichosis	Rabson-Mendenhall syndrome
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:769	"" []	578123	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Rabson-Mendenhall syndrome
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:769	"" []	578124	\N	\N	EFO	2	EFO	Genetic hair anomaly	Rabson-Mendenhall syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:769	"" []	1161588	\N	\N	EFO	3	EFO	diabetes mellitus	Rabson-Mendenhall syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:769	"" []	1161589	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Rabson-Mendenhall syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:769	"" []	1161590	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Rabson-Mendenhall syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:769	"" []	2045094	\N	\N	EFO	4	EFO	metabolic disease	Rabson-Mendenhall syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:769	"" []	2045095	\N	\N	EFO	4	EFO	genetic disorder	Rabson-Mendenhall syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:769	"" []	2045096	\N	\N	EFO	4	EFO	endocrine system disease	Rabson-Mendenhall syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:769	"" []	2045097	\N	\N	EFO	4	EFO	Rare genetic skin disease	Rabson-Mendenhall syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:769	"" []	3195199	\N	\N	EFO	5	EFO	disease	Rabson-Mendenhall syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:769	"" []	4401112	\N	\N	EFO	6	EFO	disease	Rabson-Mendenhall syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:769	"" []	3195201	\N	\N	EFO	5	EFO	disease	Rabson-Mendenhall syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:769	"" []	3195202	\N	\N	EFO	5	EFO	genetic disorder	Rabson-Mendenhall syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:769	"" []	3195203	\N	\N	EFO	5	EFO	skin disease	Rabson-Mendenhall syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:769	"" []	5183237	\N	\N	EFO	7	EFO	disposition	Rabson-Mendenhall syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:769	"" []	4401113	\N	\N	EFO	6	EFO	disease	Rabson-Mendenhall syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:769	"" []	5998578	\N	\N	EFO	8	EFO	material property	Rabson-Mendenhall syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:769	"" []	6551663	\N	\N	EFO	9	EFO	experimental factor	Rabson-Mendenhall syndrome
Orphanet:77	\N	\N	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	77817	\N	\N	EFO	0	EFO	Aniridia	Aniridia
Orphanet:98554	Orphanet:77	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	222085	\N	\N	EFO	1	EFO	Major induction processes eye anomaly	Aniridia
Orphanet:98634	Orphanet:77	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	222086	\N	\N	EFO	1	EFO	Iridogoniodysgenesis	Aniridia
Orphanet:98641	Orphanet:77	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	222087	\N	\N	EFO	1	EFO	Syndromic cataract	Aniridia
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	578125	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Aniridia
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	578126	\N	\N	EFO	2	EFO	Glaucoma associated with neural crest cell migration anomaly	Aniridia
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	578127	\N	\N	EFO	2	EFO	Rare cataract	Aniridia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	5417571	\N	\N	EFO	7	EFO	Rare genetic eye disease	Aniridia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	5417572	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Aniridia
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	1161593	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Aniridia
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	1161594	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Aniridia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	5801881	\N	\N	EFO	8	EFO	genetic disorder	Aniridia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	5801882	\N	\N	EFO	8	EFO	eye disease	Aniridia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	5801883	\N	\N	EFO	8	EFO	genetic disorder	Aniridia
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	2045101	\N	\N	EFO	4	EFO	Hereditary glaucoma	Aniridia
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	2045102	\N	\N	EFO	4	EFO	Rare genetic eye disease	Aniridia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	6378979	\N	\N	EFO	9	EFO	disease	Aniridia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	6378980	\N	\N	EFO	9	EFO	disease	Aniridia
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	3195206	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Aniridia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	6778812	\N	\N	EFO	10	EFO	disposition	Aniridia
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	4401115	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Aniridia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	7030004	\N	\N	EFO	11	EFO	material property	Aniridia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	7181820	\N	\N	EFO	12	EFO	experimental factor	Aniridia
Orphanet:772	\N	\N	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	77818	\N	\N	EFO	0	EFO	Infantile Refsum disease	Infantile Refsum disease
Orphanet:139009	Orphanet:772	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	222088	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Infantile Refsum disease
Orphanet:79189	Orphanet:772	\N	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	222089	\N	\N	EFO	1	EFO	Peroxisome biogenesis disorder-Zellweger syndrome spectrum	Infantile Refsum disease
Orphanet:98096	Orphanet:772	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	222090	\N	\N	EFO	1	EFO	Autosomal recessive metabolic cerebellar ataxia	Infantile Refsum disease
Orphanet:98666	Orphanet:772	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	222091	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Infantile Refsum disease
Orphanet:98713	Orphanet:772	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	222092	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Infantile Refsum disease
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	578128	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Infantile Refsum disease
Orphanet:101940	Orphanet:79189	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	578129	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Infantile Refsum disease
Orphanet:207018	Orphanet:79189	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	578130	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Infantile Refsum disease
Orphanet:68356	Orphanet:79189	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	578131	\N	\N	EFO	2	EFO	Leukodystrophy	Infantile Refsum disease
Orphanet:68373	Orphanet:79189	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	578132	\N	\N	EFO	2	EFO	Peroxisomal disease	Infantile Refsum disease
Orphanet:68385	Orphanet:79189	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	578133	\N	\N	EFO	2	EFO	Neurometabolic disease	Infantile Refsum disease
Orphanet:1172	Orphanet:98096	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	578134	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Infantile Refsum disease
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	578135	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Infantile Refsum disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	578136	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Infantile Refsum disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	1161595	\N	\N	EFO	3	EFO	genetic disorder	Infantile Refsum disease
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	1161596	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Infantile Refsum disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	1161597	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Infantile Refsum disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	1161598	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile Refsum disease
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	1161599	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Infantile Refsum disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	1161600	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile Refsum disease
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	1161601	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Infantile Refsum disease
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	1161602	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Infantile Refsum disease
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	1161603	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Infantile Refsum disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	1161604	\N	\N	EFO	3	EFO	Retinal dystrophy	Infantile Refsum disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	1161605	\N	\N	EFO	3	EFO	Rare genetic eye disease	Infantile Refsum disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	6378982	\N	\N	EFO	9	EFO	disease	Infantile Refsum disease
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	2045104	\N	\N	EFO	4	EFO	digestive system disease	Infantile Refsum disease
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	2045105	\N	\N	EFO	4	EFO	genetic disorder	Infantile Refsum disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	2045106	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Infantile Refsum disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	6152539	\N	\N	EFO	8	EFO	genetic disorder	Infantile Refsum disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	2045108	\N	\N	EFO	4	EFO	genetic disorder	Infantile Refsum disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	2045109	\N	\N	EFO	4	EFO	metabolic disease	Infantile Refsum disease
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	2045110	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Infantile Refsum disease
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	2045111	\N	\N	EFO	4	EFO	Ataxia with dementia	Infantile Refsum disease
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	2045112	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Infantile Refsum disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	2045113	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Infantile Refsum disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	5417579	\N	\N	EFO	7	EFO	genetic disorder	Infantile Refsum disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	5417580	\N	\N	EFO	7	EFO	eye disease	Infantile Refsum disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	6762398	\N	\N	EFO	10	EFO	disposition	Infantile Refsum disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	3195210	\N	\N	EFO	5	EFO	disease	Infantile Refsum disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	3195212	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Infantile Refsum disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	3195213	\N	\N	EFO	5	EFO	disease	Infantile Refsum disease
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	3195215	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Infantile Refsum disease
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	3195216	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Infantile Refsum disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	3195217	\N	\N	EFO	5	EFO	Rare genetic eye disease	Infantile Refsum disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	5817841	\N	\N	EFO	8	EFO	disease	Infantile Refsum disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	7015711	\N	\N	EFO	11	EFO	material property	Infantile Refsum disease
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	4401118	\N	\N	EFO	6	EFO	Genetic dementia	Infantile Refsum disease
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	4401119	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Infantile Refsum disease
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	4401120	\N	\N	EFO	6	EFO	Rare genetic eye disease	Infantile Refsum disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	7173657	\N	\N	EFO	12	EFO	experimental factor	Infantile Refsum disease
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	5417574	\N	\N	EFO	7	EFO	brain disease	Infantile Refsum disease
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	5417575	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Infantile Refsum disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	5417576	\N	\N	EFO	7	EFO	neurodegenerative disease	Infantile Refsum disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	5417577	\N	\N	EFO	7	EFO	brain disease	Infantile Refsum disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	5417578	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Infantile Refsum disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	6152538	\N	\N	EFO	8	EFO	nervous system disease	Infantile Refsum disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	6152540	\N	\N	EFO	8	EFO	nervous system disease	Infantile Refsum disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:772	"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." []	6634104	\N	\N	EFO	9	EFO	disease	Infantile Refsum disease
Orphanet:77240	\N	\N	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	Orphanet:77240	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	77819	\N	\N	EFO	0	EFO	Primary lymphedema	Primary lymphedema
Orphanet:79383	Orphanet:77240	\N	"" []	Orphanet:77240	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	222093	\N	\N	EFO	1	EFO	Lymphedema	Primary lymphedema
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:77240	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	578137	\N	\N	EFO	2	EFO	Rare genetic skin disease	Primary lymphedema
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77240	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	1161606	\N	\N	EFO	3	EFO	genetic disorder	Primary lymphedema
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:77240	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	1161607	\N	\N	EFO	3	EFO	skin disease	Primary lymphedema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77240	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	2045116	\N	\N	EFO	4	EFO	disease	Primary lymphedema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77240	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	2045117	\N	\N	EFO	4	EFO	disease	Primary lymphedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77240	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	3195219	\N	\N	EFO	5	EFO	disposition	Primary lymphedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77240	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	4401123	\N	\N	EFO	6	EFO	material property	Primary lymphedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77240	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	5417581	\N	\N	EFO	7	EFO	experimental factor	Primary lymphedema
Orphanet:77243	\N	\N	"" []	Orphanet:77243	"" []	77820	\N	\N	EFO	0	EFO	Lipedema	Lipedema
Orphanet:183484	Orphanet:77243	\N	"" []	Orphanet:77243	"" []	222094	\N	\N	EFO	1	EFO	Genetic subcutaneous tissue disorder	Lipedema
Orphanet:79383	Orphanet:77243	\N	"" []	Orphanet:77243	"" []	222095	\N	\N	EFO	1	EFO	Lymphedema	Lipedema
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:77243	"" []	578138	\N	\N	EFO	2	EFO	Rare genetic skin disease	Lipedema
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:77243	"" []	578139	\N	\N	EFO	2	EFO	Rare genetic skin disease	Lipedema
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77243	"" []	1161608	\N	\N	EFO	3	EFO	genetic disorder	Lipedema
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:77243	"" []	1161609	\N	\N	EFO	3	EFO	skin disease	Lipedema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77243	"" []	2045118	\N	\N	EFO	4	EFO	disease	Lipedema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77243	"" []	2045119	\N	\N	EFO	4	EFO	disease	Lipedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77243	"" []	3195220	\N	\N	EFO	5	EFO	disposition	Lipedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77243	"" []	4401124	\N	\N	EFO	6	EFO	material property	Lipedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77243	"" []	5417582	\N	\N	EFO	7	EFO	experimental factor	Lipedema
Orphanet:77258	\N	\N	"" []	Orphanet:77258	"" []	77821	\N	\N	EFO	0	EFO	Trichorhinophalangeal syndrome type 1 and 3	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:324764	Orphanet:77258	\N	"" []	Orphanet:77258	"" []	222096	\N	\N	EFO	1	EFO	Trichorhinophalangeal syndrome	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:79373	Orphanet:324764	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:77258	"" []	578140	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:93436	Orphanet:324764	\N	"" []	Orphanet:77258	"" []	578141	\N	\N	EFO	2	EFO	Acromelic dysplasia	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:77258	"" []	1161610	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:77258	"" []	1161611	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:77258	"" []	1161612	\N	\N	EFO	3	EFO	Primary bone dysplasia	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:77258	"" []	2045120	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:77258	"" []	2045121	\N	\N	EFO	4	EFO	Rare genetic skin disease	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:77258	"" []	2045122	\N	\N	EFO	4	EFO	Rare genetic bone disease	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:77258	"" []	2045123	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Trichorhinophalangeal syndrome type 1 and 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77258	"" []	4401128	\N	\N	EFO	6	EFO	genetic disorder	Trichorhinophalangeal syndrome type 1 and 3
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77258	"" []	3195222	\N	\N	EFO	5	EFO	genetic disorder	Trichorhinophalangeal syndrome type 1 and 3
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:77258	"" []	3195223	\N	\N	EFO	5	EFO	skin disease	Trichorhinophalangeal syndrome type 1 and 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77258	"" []	3195224	\N	\N	EFO	5	EFO	genetic disorder	Trichorhinophalangeal syndrome type 1 and 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:77258	"" []	3195225	\N	\N	EFO	5	EFO	bone disease	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:77258	"" []	3195226	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Trichorhinophalangeal syndrome type 1 and 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77258	"" []	5183240	\N	\N	EFO	7	EFO	disease	Trichorhinophalangeal syndrome type 1 and 3
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77258	"" []	4401126	\N	\N	EFO	6	EFO	disease	Trichorhinophalangeal syndrome type 1 and 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:77258	"" []	4401127	\N	\N	EFO	6	EFO	skeletal system disease	Trichorhinophalangeal syndrome type 1 and 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77258	"" []	5998581	\N	\N	EFO	8	EFO	disposition	Trichorhinophalangeal syndrome type 1 and 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77258	"" []	5417584	\N	\N	EFO	7	EFO	disease	Trichorhinophalangeal syndrome type 1 and 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77258	"" []	6551665	\N	\N	EFO	9	EFO	material property	Trichorhinophalangeal syndrome type 1 and 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77258	"" []	6889517	\N	\N	EFO	10	EFO	experimental factor	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:77259	\N	\N	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	77822	\N	\N	EFO	0	EFO	Gaucher disease type 1	Gaucher disease type 1
Orphanet:355	Orphanet:77259	\N	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	222097	\N	\N	EFO	1	EFO	Gaucher disease	Gaucher disease type 1
Orphanet:399185	Orphanet:77259	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	222098	\N	\N	EFO	1	EFO	Rare hereditary disease with avascular necrosis	Gaucher disease type 1
Orphanet:217638	Orphanet:355	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	578142	\N	\N	EFO	2	EFO	Lysosomal disease with restrictive cardiomyopathy	Gaucher disease type 1
Orphanet:79225	Orphanet:355	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	578143	\N	\N	EFO	2	EFO	Sphingolipidosis	Gaucher disease type 1
Orphanet:98688	Orphanet:355	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	578144	\N	\N	EFO	2	EFO	Oculomotor apraxia or related oculomotor disease	Gaucher disease type 1
Orphanet:98711	Orphanet:355	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	578145	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Gaucher disease type 1
Orphanet:399388	Orphanet:399185	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	578146	\N	\N	EFO	2	EFO	Avascular necrosis of genetic origin	Gaucher disease type 1
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	1161613	\N	\N	EFO	3	EFO	Familial restrictive cardiomyopathy	Gaucher disease type 1
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	1161614	\N	\N	EFO	3	EFO	Lysosomal disease	Gaucher disease type 1
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	1161615	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Gaucher disease type 1
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	1161616	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Gaucher disease type 1
Orphanet:399380	Orphanet:399388	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	1161617	\N	\N	EFO	3	EFO	Osteonecrosis of genetic origin	Gaucher disease type 1
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	2045124	\N	\N	EFO	4	EFO	cardiomyopathy	Gaucher disease type 1
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	2045125	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Gaucher disease type 1
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	2045126	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Gaucher disease type 1
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	2045127	\N	\N	EFO	4	EFO	Rare genetic eye disease	Gaucher disease type 1
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	2045128	\N	\N	EFO	4	EFO	Rare genetic eye disease	Gaucher disease type 1
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	2045129	\N	\N	EFO	4	EFO	Rare genetic bone disease	Gaucher disease type 1
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	3195227	\N	\N	EFO	5	EFO	heart disease	Gaucher disease type 1
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	3195228	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease type 1
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	3195229	\N	\N	EFO	5	EFO	heart disease	Gaucher disease type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	3195230	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	3195231	\N	\N	EFO	5	EFO	metabolic disease	Gaucher disease type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	3195232	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	3195233	\N	\N	EFO	5	EFO	eye disease	Gaucher disease type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	3195234	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	3195235	\N	\N	EFO	5	EFO	bone disease	Gaucher disease type 1
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	4401129	\N	\N	EFO	6	EFO	cardiovascular disease	Gaucher disease type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	4401130	\N	\N	EFO	6	EFO	disease	Gaucher disease type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	4401131	\N	\N	EFO	6	EFO	disease	Gaucher disease type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	4401132	\N	\N	EFO	6	EFO	disease	Gaucher disease type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	4401133	\N	\N	EFO	6	EFO	skeletal system disease	Gaucher disease type 1
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	5417585	\N	\N	EFO	7	EFO	disease	Gaucher disease type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	6152542	\N	\N	EFO	8	EFO	disposition	Gaucher disease type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	5417587	\N	\N	EFO	7	EFO	disease	Gaucher disease type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	6551666	\N	\N	EFO	9	EFO	material property	Gaucher disease type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77259	"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." []	6889518	\N	\N	EFO	10	EFO	experimental factor	Gaucher disease type 1
Orphanet:77260	\N	\N	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	77823	\N	\N	EFO	0	EFO	Gaucher disease type 2	Gaucher disease type 2
Orphanet:355	Orphanet:77260	\N	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	222099	\N	\N	EFO	1	EFO	Gaucher disease	Gaucher disease type 2
Orphanet:68385	Orphanet:77260	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	222100	\N	\N	EFO	1	EFO	Neurometabolic disease	Gaucher disease type 2
Orphanet:217638	Orphanet:355	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	578147	\N	\N	EFO	2	EFO	Lysosomal disease with restrictive cardiomyopathy	Gaucher disease type 2
Orphanet:79225	Orphanet:355	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	578148	\N	\N	EFO	2	EFO	Sphingolipidosis	Gaucher disease type 2
Orphanet:98688	Orphanet:355	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	578149	\N	\N	EFO	2	EFO	Oculomotor apraxia or related oculomotor disease	Gaucher disease type 2
Orphanet:98711	Orphanet:355	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	578150	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Gaucher disease type 2
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	578151	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Gaucher disease type 2
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	1161618	\N	\N	EFO	3	EFO	Familial restrictive cardiomyopathy	Gaucher disease type 2
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	1161619	\N	\N	EFO	3	EFO	Lysosomal disease	Gaucher disease type 2
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	1161620	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Gaucher disease type 2
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	1161621	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Gaucher disease type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	1161622	\N	\N	EFO	3	EFO	genetic disorder	Gaucher disease type 2
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	2045130	\N	\N	EFO	4	EFO	cardiomyopathy	Gaucher disease type 2
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	2045131	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Gaucher disease type 2
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	2045132	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Gaucher disease type 2
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	2045133	\N	\N	EFO	4	EFO	Rare genetic eye disease	Gaucher disease type 2
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	2045134	\N	\N	EFO	4	EFO	Rare genetic eye disease	Gaucher disease type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	4401135	\N	\N	EFO	6	EFO	disease	Gaucher disease type 2
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	3195236	\N	\N	EFO	5	EFO	heart disease	Gaucher disease type 2
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	3195237	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease type 2
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	3195238	\N	\N	EFO	5	EFO	heart disease	Gaucher disease type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	3195239	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	3195240	\N	\N	EFO	5	EFO	metabolic disease	Gaucher disease type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	3195241	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	3195242	\N	\N	EFO	5	EFO	eye disease	Gaucher disease type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	6152544	\N	\N	EFO	8	EFO	disposition	Gaucher disease type 2
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	4401134	\N	\N	EFO	6	EFO	cardiovascular disease	Gaucher disease type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	4401136	\N	\N	EFO	6	EFO	disease	Gaucher disease type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	4401137	\N	\N	EFO	6	EFO	disease	Gaucher disease type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	6410321	\N	\N	EFO	9	EFO	material property	Gaucher disease type 2
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	5417588	\N	\N	EFO	7	EFO	disease	Gaucher disease type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77260	"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." []	6808142	\N	\N	EFO	10	EFO	experimental factor	Gaucher disease type 2
Orphanet:77261	\N	\N	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	77824	\N	\N	EFO	0	EFO	Gaucher disease type 3	Gaucher disease type 3
Orphanet:355	Orphanet:77261	\N	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	222101	\N	\N	EFO	1	EFO	Gaucher disease	Gaucher disease type 3
Orphanet:399185	Orphanet:77261	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	222102	\N	\N	EFO	1	EFO	Rare hereditary disease with avascular necrosis	Gaucher disease type 3
Orphanet:68385	Orphanet:77261	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	222103	\N	\N	EFO	1	EFO	Neurometabolic disease	Gaucher disease type 3
Orphanet:217638	Orphanet:355	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	578152	\N	\N	EFO	2	EFO	Lysosomal disease with restrictive cardiomyopathy	Gaucher disease type 3
Orphanet:79225	Orphanet:355	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	578153	\N	\N	EFO	2	EFO	Sphingolipidosis	Gaucher disease type 3
Orphanet:98688	Orphanet:355	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	578154	\N	\N	EFO	2	EFO	Oculomotor apraxia or related oculomotor disease	Gaucher disease type 3
Orphanet:98711	Orphanet:355	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	578155	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Gaucher disease type 3
Orphanet:399388	Orphanet:399185	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	578156	\N	\N	EFO	2	EFO	Avascular necrosis of genetic origin	Gaucher disease type 3
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	578157	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Gaucher disease type 3
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	1161623	\N	\N	EFO	3	EFO	Familial restrictive cardiomyopathy	Gaucher disease type 3
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	1161624	\N	\N	EFO	3	EFO	Lysosomal disease	Gaucher disease type 3
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	1161625	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Gaucher disease type 3
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	1161626	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Gaucher disease type 3
Orphanet:399380	Orphanet:399388	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	1161627	\N	\N	EFO	3	EFO	Osteonecrosis of genetic origin	Gaucher disease type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	1161628	\N	\N	EFO	3	EFO	genetic disorder	Gaucher disease type 3
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	2045136	\N	\N	EFO	4	EFO	cardiomyopathy	Gaucher disease type 3
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	2045137	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Gaucher disease type 3
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	2045138	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Gaucher disease type 3
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	2045139	\N	\N	EFO	4	EFO	Rare genetic eye disease	Gaucher disease type 3
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	2045140	\N	\N	EFO	4	EFO	Rare genetic eye disease	Gaucher disease type 3
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	2045141	\N	\N	EFO	4	EFO	Rare genetic bone disease	Gaucher disease type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	4401140	\N	\N	EFO	6	EFO	disease	Gaucher disease type 3
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	3195244	\N	\N	EFO	5	EFO	heart disease	Gaucher disease type 3
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	3195245	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease type 3
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	3195246	\N	\N	EFO	5	EFO	heart disease	Gaucher disease type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	3195247	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	3195248	\N	\N	EFO	5	EFO	metabolic disease	Gaucher disease type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	3195249	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	3195250	\N	\N	EFO	5	EFO	eye disease	Gaucher disease type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	3195251	\N	\N	EFO	5	EFO	genetic disorder	Gaucher disease type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	3195252	\N	\N	EFO	5	EFO	bone disease	Gaucher disease type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	6152545	\N	\N	EFO	8	EFO	disposition	Gaucher disease type 3
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	4401139	\N	\N	EFO	6	EFO	cardiovascular disease	Gaucher disease type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	4401141	\N	\N	EFO	6	EFO	disease	Gaucher disease type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	4401142	\N	\N	EFO	6	EFO	disease	Gaucher disease type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	4401143	\N	\N	EFO	6	EFO	skeletal system disease	Gaucher disease type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	6410322	\N	\N	EFO	9	EFO	material property	Gaucher disease type 3
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	5417590	\N	\N	EFO	7	EFO	disease	Gaucher disease type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	5417591	\N	\N	EFO	7	EFO	disease	Gaucher disease type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77261	"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." []	6808143	\N	\N	EFO	10	EFO	experimental factor	Gaucher disease type 3
Orphanet:77292	\N	\N	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	77825	\N	\N	EFO	0	EFO	Niemann-Pick disease type A	Niemann-Pick disease type A
EFO:1001380	Orphanet:77292	\N	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	222104	\N	\N	EFO	1	EFO	Niemann-Pick disease	Niemann-Pick disease type A
Orphanet:68385	Orphanet:77292	\N	"" []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	222105	\N	\N	EFO	1	EFO	Neurometabolic disease	Niemann-Pick disease type A
Orphanet:79225	Orphanet:77292	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	222106	\N	\N	EFO	1	EFO	Sphingolipidosis	Niemann-Pick disease type A
Orphanet:98714	Orphanet:77292	\N	"" []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	222107	\N	\N	EFO	1	EFO	Metabolic disease with macular cherry-red spot	Niemann-Pick disease type A
EFO:0000616	EFO:1001380	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	578158	\N	\N	EFO	2	EFO	neoplasm	Niemann-Pick disease type A
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	578159	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Niemann-Pick disease type A
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	578160	\N	\N	EFO	2	EFO	Lysosomal disease	Niemann-Pick disease type A
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	578161	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Niemann-Pick disease type A
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	1161629	\N	\N	EFO	3	EFO	disease	Niemann-Pick disease type A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	1161630	\N	\N	EFO	3	EFO	genetic disorder	Niemann-Pick disease type A
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	1161631	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Niemann-Pick disease type A
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	1161632	\N	\N	EFO	3	EFO	Rare genetic eye disease	Niemann-Pick disease type A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	4134303	\N	\N	EFO	6	EFO	disposition	Niemann-Pick disease type A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	3195256	\N	\N	EFO	5	EFO	disease	Niemann-Pick disease type A
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	2045145	\N	\N	EFO	4	EFO	genetic disorder	Niemann-Pick disease type A
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	2045146	\N	\N	EFO	4	EFO	metabolic disease	Niemann-Pick disease type A
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	2045147	\N	\N	EFO	4	EFO	genetic disorder	Niemann-Pick disease type A
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	2045148	\N	\N	EFO	4	EFO	eye disease	Niemann-Pick disease type A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	5060231	\N	\N	EFO	7	EFO	material property	Niemann-Pick disease type A
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	3195257	\N	\N	EFO	5	EFO	disease	Niemann-Pick disease type A
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	3195258	\N	\N	EFO	5	EFO	disease	Niemann-Pick disease type A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77292	"Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." []	5877672	\N	\N	EFO	8	EFO	experimental factor	Niemann-Pick disease type A
Orphanet:77293	\N	\N	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	77826	\N	\N	EFO	0	EFO	Niemann-Pick disease type B	Niemann-Pick disease type B
EFO:1001380	Orphanet:77293	\N	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	222108	\N	\N	EFO	1	EFO	Niemann-Pick disease	Niemann-Pick disease type B
Orphanet:207018	Orphanet:77293	\N	"" []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	222109	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Niemann-Pick disease type B
Orphanet:79225	Orphanet:77293	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	222110	\N	\N	EFO	1	EFO	Sphingolipidosis	Niemann-Pick disease type B
EFO:0000616	EFO:1001380	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	578162	\N	\N	EFO	2	EFO	neoplasm	Niemann-Pick disease type B
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	578163	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Niemann-Pick disease type B
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	578164	\N	\N	EFO	2	EFO	Lysosomal disease	Niemann-Pick disease type B
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	1161633	\N	\N	EFO	3	EFO	disease	Niemann-Pick disease type B
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	1161634	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Niemann-Pick disease type B
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	1161635	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Niemann-Pick disease type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	5183242	\N	\N	EFO	7	EFO	disposition	Niemann-Pick disease type B
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	2045150	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Niemann-Pick disease type B
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	2045151	\N	\N	EFO	4	EFO	genetic disorder	Niemann-Pick disease type B
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	2045152	\N	\N	EFO	4	EFO	metabolic disease	Niemann-Pick disease type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	5817842	\N	\N	EFO	8	EFO	material property	Niemann-Pick disease type B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	3195260	\N	\N	EFO	5	EFO	genetic disorder	Niemann-Pick disease type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	4401147	\N	\N	EFO	6	EFO	disease	Niemann-Pick disease type B
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	3195262	\N	\N	EFO	5	EFO	disease	Niemann-Pick disease type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77293	"Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" []	6410323	\N	\N	EFO	9	EFO	experimental factor	Niemann-Pick disease type B
Orphanet:77295	\N	\N	"" []	Orphanet:77295	"" []	77827	\N	\N	EFO	0	EFO	Odontoleukodystrophy	Odontoleukodystrophy
Orphanet:289494	Orphanet:77295	\N	"" []	Orphanet:77295	"" []	222111	\N	\N	EFO	1	EFO	Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism	Odontoleukodystrophy
Orphanet:68356	Orphanet:289494	\N	"" []	Orphanet:77295	"" []	578165	\N	\N	EFO	2	EFO	Leukodystrophy	Odontoleukodystrophy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:77295	"" []	1161636	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Odontoleukodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77295	"" []	2045153	\N	\N	EFO	4	EFO	genetic disorder	Odontoleukodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77295	"" []	3195263	\N	\N	EFO	5	EFO	disease	Odontoleukodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77295	"" []	4401149	\N	\N	EFO	6	EFO	disposition	Odontoleukodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77295	"" []	5417593	\N	\N	EFO	7	EFO	material property	Odontoleukodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77295	"" []	6152546	\N	\N	EFO	8	EFO	experimental factor	Odontoleukodystrophy
Orphanet:77296	\N	\N	"" []	Orphanet:77296	"" []	77828	\N	\N	EFO	0	EFO	Morgagni-Stewart-Morel syndrome	Morgagni-Stewart-Morel syndrome
Orphanet:183542	Orphanet:77296	\N	"" []	Orphanet:77296	"" []	222112	\N	\N	EFO	1	EFO	Genetic cranial malformation	Morgagni-Stewart-Morel syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:77296	"" []	578166	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Morgagni-Stewart-Morel syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77296	"" []	1161637	\N	\N	EFO	3	EFO	genetic disorder	Morgagni-Stewart-Morel syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77296	"" []	2045154	\N	\N	EFO	4	EFO	disease	Morgagni-Stewart-Morel syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77296	"" []	3195264	\N	\N	EFO	5	EFO	disposition	Morgagni-Stewart-Morel syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77296	"" []	4401150	\N	\N	EFO	6	EFO	material property	Morgagni-Stewart-Morel syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77296	"" []	5417594	\N	\N	EFO	7	EFO	experimental factor	Morgagni-Stewart-Morel syndrome
Orphanet:77297	\N	\N	"" []	Orphanet:77297	"" []	77829	\N	\N	EFO	0	EFO	Majeed syndrome	Majeed syndrome
Orphanet:290839	Orphanet:77297	\N	"" []	Orphanet:77297	"" []	222113	\N	\N	EFO	1	EFO	Autoinflammatory syndrome with immune deficiency	Majeed syndrome
Orphanet:293830	Orphanet:77297	\N	"" []	Orphanet:77297	"" []	222114	\N	\N	EFO	1	EFO	Constitutional dyserythropoietic anemia	Majeed syndrome
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:77297	"" []	578167	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Majeed syndrome
Orphanet:183651	Orphanet:293830	\N	"" []	Orphanet:77297	"" []	578168	\N	\N	EFO	2	EFO	Rare constitutional anemia	Majeed syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:77297	"" []	1161638	\N	\N	EFO	3	EFO	Primary immunodeficiency	Majeed syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:77297	"" []	1161639	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Majeed syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:77297	"" []	2045155	\N	\N	EFO	4	EFO	Rare genetic immune disease	Majeed syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77297	"" []	2045156	\N	\N	EFO	4	EFO	genetic disorder	Majeed syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:77297	"" []	2045157	\N	\N	EFO	4	EFO	hematological system disease	Majeed syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77297	"" []	3195265	\N	\N	EFO	5	EFO	genetic disorder	Majeed syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:77297	"" []	3195266	\N	\N	EFO	5	EFO	immune system disease	Majeed syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77297	"" []	4401151	\N	\N	EFO	6	EFO	disease	Majeed syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77297	"" []	3195268	\N	\N	EFO	5	EFO	disease	Majeed syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77297	"" []	4401152	\N	\N	EFO	6	EFO	disease	Majeed syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77297	"" []	5183243	\N	\N	EFO	7	EFO	disposition	Majeed syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77297	"" []	5998582	\N	\N	EFO	8	EFO	material property	Majeed syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77297	"" []	6551667	\N	\N	EFO	9	EFO	experimental factor	Majeed syndrome
Orphanet:77298	\N	\N	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	77830	\N	\N	EFO	0	EFO	Anophthalmia/microphthalmia - esophageal atresia	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:202948	Orphanet:77298	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	222115	\N	\N	EFO	1	EFO	Syndromic microphthalmia	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:330197	Orphanet:77298	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	222116	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:371445	Orphanet:77298	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	222117	\N	\N	EFO	1	EFO	Genetic syndromic esophageal malformation	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:95495	Orphanet:77298	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	222118	\N	\N	EFO	1	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	578169	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	578170	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:88993	Orphanet:371445	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	578171	\N	\N	EFO	2	EFO	Esophageal malformation	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	578172	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	1161640	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	1161641	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	1161642	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	1161643	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	2045158	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Anophthalmia/microphthalmia - esophageal atresia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	4401156	\N	\N	EFO	6	EFO	genetic disorder	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	2045160	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	2045161	\N	\N	EFO	4	EFO	Pituitary deficiency	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	3195269	\N	\N	EFO	5	EFO	Rare genetic eye disease	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	3195270	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Anophthalmia/microphthalmia - esophageal atresia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	6152549	\N	\N	EFO	8	EFO	disease	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	3195273	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Anophthalmia/microphthalmia - esophageal atresia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	4401154	\N	\N	EFO	6	EFO	genetic disorder	Anophthalmia/microphthalmia - esophageal atresia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	4401155	\N	\N	EFO	6	EFO	eye disease	Anophthalmia/microphthalmia - esophageal atresia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	6410324	\N	\N	EFO	9	EFO	disposition	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	4401158	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Anophthalmia/microphthalmia - esophageal atresia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	5417596	\N	\N	EFO	7	EFO	disease	Anophthalmia/microphthalmia - esophageal atresia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	6808144	\N	\N	EFO	10	EFO	material property	Anophthalmia/microphthalmia - esophageal atresia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	5417598	\N	\N	EFO	7	EFO	genetic disorder	Anophthalmia/microphthalmia - esophageal atresia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	5417599	\N	\N	EFO	7	EFO	endocrine system disease	Anophthalmia/microphthalmia - esophageal atresia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	7048790	\N	\N	EFO	11	EFO	experimental factor	Anophthalmia/microphthalmia - esophageal atresia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77298	"Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." []	6152550	\N	\N	EFO	8	EFO	disease	Anophthalmia/microphthalmia - esophageal atresia
Orphanet:77299	\N	\N	"" []	Orphanet:77299	"" []	77831	\N	\N	EFO	0	EFO	Microphthalmia - brain atrophy	Microphthalmia - brain atrophy
Orphanet:183500	Orphanet:77299	\N	"" []	Orphanet:77299	"" []	222119	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Microphthalmia - brain atrophy
Orphanet:183763	Orphanet:77299	\N	"" []	Orphanet:77299	"" []	222120	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Microphthalmia - brain atrophy
Orphanet:202948	Orphanet:77299	\N	"" []	Orphanet:77299	"" []	222121	\N	\N	EFO	1	EFO	Syndromic microphthalmia	Microphthalmia - brain atrophy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:77299	"" []	578173	\N	\N	EFO	2	EFO	neurodegenerative disease	Microphthalmia - brain atrophy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:77299	"" []	578174	\N	\N	EFO	2	EFO	brain disease	Microphthalmia - brain atrophy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:77299	"" []	578175	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Microphthalmia - brain atrophy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:77299	"" []	578176	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Microphthalmia - brain atrophy
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:77299	"" []	578177	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Microphthalmia - brain atrophy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:77299	"" []	1161644	\N	\N	EFO	3	EFO	nervous system disease	Microphthalmia - brain atrophy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:77299	"" []	1161645	\N	\N	EFO	3	EFO	nervous system disease	Microphthalmia - brain atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77299	"" []	2045164	\N	\N	EFO	4	EFO	genetic disorder	Microphthalmia - brain atrophy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:77299	"" []	1161647	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Microphthalmia - brain atrophy
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:77299	"" []	1161648	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Microphthalmia - brain atrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77299	"" []	2045162	\N	\N	EFO	4	EFO	disease	Microphthalmia - brain atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77299	"" []	5417601	\N	\N	EFO	7	EFO	disease	Microphthalmia - brain atrophy
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:77299	"" []	2045165	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Microphthalmia - brain atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77299	"" []	5817843	\N	\N	EFO	8	EFO	disposition	Microphthalmia - brain atrophy
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:77299	"" []	3195275	\N	\N	EFO	5	EFO	Rare genetic eye disease	Microphthalmia - brain atrophy
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:77299	"" []	3195276	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia - brain atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77299	"" []	6410325	\N	\N	EFO	9	EFO	material property	Microphthalmia - brain atrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77299	"" []	4401160	\N	\N	EFO	6	EFO	genetic disorder	Microphthalmia - brain atrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:77299	"" []	4401161	\N	\N	EFO	6	EFO	eye disease	Microphthalmia - brain atrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77299	"" []	4401162	\N	\N	EFO	6	EFO	genetic disorder	Microphthalmia - brain atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77299	"" []	6808145	\N	\N	EFO	10	EFO	experimental factor	Microphthalmia - brain atrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77299	"" []	5417602	\N	\N	EFO	7	EFO	disease	Microphthalmia - brain atrophy
Orphanet:773	\N	\N	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	77832	\N	\N	EFO	0	EFO	Refsum disease	Refsum disease
Orphanet:207018	Orphanet:773	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	222122	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Refsum disease
Orphanet:281238	Orphanet:773	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	222123	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with prominent neurologics signs	Refsum disease
Orphanet:309810	Orphanet:773	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	222124	\N	\N	EFO	1	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	Refsum disease
Orphanet:68356	Orphanet:773	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	222125	\N	\N	EFO	1	EFO	Leukodystrophy	Refsum disease
Orphanet:68385	Orphanet:773	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	222126	\N	\N	EFO	1	EFO	Neurometabolic disease	Refsum disease
Orphanet:98096	Orphanet:773	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	222127	\N	\N	EFO	1	EFO	Autosomal recessive metabolic cerebellar ataxia	Refsum disease
Orphanet:98644	Orphanet:773	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	222128	\N	\N	EFO	1	EFO	Cataract associated with a metabolic disease	Refsum disease
Orphanet:98699	Orphanet:773	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	222129	\N	\N	EFO	1	EFO	Syndromic ichthyosis associated with ocular features	Refsum disease
Orphanet:98713	Orphanet:773	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	222130	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Refsum disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	578178	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Refsum disease
Orphanet:281217	Orphanet:281238	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	578179	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Refsum disease
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	578180	\N	\N	EFO	2	EFO	Peroxisomal disease	Refsum disease
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	578181	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Refsum disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	578182	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Refsum disease
Orphanet:1172	Orphanet:98096	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	578183	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Refsum disease
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	578184	\N	\N	EFO	2	EFO	Systemic disease with cataract	Refsum disease
Orphanet:98697	Orphanet:98699	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	578185	\N	\N	EFO	2	EFO	Genetic keratinization disorder associated with ocular features	Refsum disease
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	578186	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Refsum disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	1161649	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Refsum disease
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	1161650	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Refsum disease
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	1161651	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Refsum disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	6152553	\N	\N	EFO	8	EFO	genetic disorder	Refsum disease
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	1161653	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Refsum disease
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	1161654	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Refsum disease
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	1161655	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Refsum disease
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	1161656	\N	\N	EFO	3	EFO	Syndromic cataract	Refsum disease
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	1161657	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Refsum disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	1161658	\N	\N	EFO	3	EFO	Rare genetic eye disease	Refsum disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	2045166	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Refsum disease
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	2045167	\N	\N	EFO	4	EFO	Inherited ichthyosis	Refsum disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	2045168	\N	\N	EFO	4	EFO	genetic disorder	Refsum disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	2045169	\N	\N	EFO	4	EFO	metabolic disease	Refsum disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	6370831	\N	\N	EFO	9	EFO	disease	Refsum disease
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	2045171	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Refsum disease
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	2045172	\N	\N	EFO	4	EFO	Ataxia with dementia	Refsum disease
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	2045173	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Refsum disease
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	2045174	\N	\N	EFO	4	EFO	Rare cataract	Refsum disease
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	2045175	\N	\N	EFO	4	EFO	Rare genetic eye disease	Refsum disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	5417611	\N	\N	EFO	7	EFO	genetic disorder	Refsum disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	5417612	\N	\N	EFO	7	EFO	eye disease	Refsum disease
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	3195278	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Refsum disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	3195280	\N	\N	EFO	5	EFO	disease	Refsum disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	6762399	\N	\N	EFO	10	EFO	disposition	Refsum disease
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	3195282	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Refsum disease
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	3195283	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Refsum disease
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	3195284	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Refsum disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	5817845	\N	\N	EFO	8	EFO	disease	Refsum disease
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	4401163	\N	\N	EFO	6	EFO	Rare genetic skin disease	Refsum disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	7015712	\N	\N	EFO	11	EFO	material property	Refsum disease
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	4401165	\N	\N	EFO	6	EFO	Genetic dementia	Refsum disease
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	4401166	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Refsum disease
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	4401167	\N	\N	EFO	6	EFO	Rare genetic eye disease	Refsum disease
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	4401168	\N	\N	EFO	6	EFO	Rare genetic eye disease	Refsum disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	5417603	\N	\N	EFO	7	EFO	genetic disorder	Refsum disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	5417604	\N	\N	EFO	7	EFO	skin disease	Refsum disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	7173658	\N	\N	EFO	12	EFO	experimental factor	Refsum disease
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	5417606	\N	\N	EFO	7	EFO	brain disease	Refsum disease
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	5417607	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Refsum disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	5417608	\N	\N	EFO	7	EFO	neurodegenerative disease	Refsum disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	5417609	\N	\N	EFO	7	EFO	brain disease	Refsum disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	5417610	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Refsum disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	6152551	\N	\N	EFO	8	EFO	disease	Refsum disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	6152552	\N	\N	EFO	8	EFO	nervous system disease	Refsum disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	6152554	\N	\N	EFO	8	EFO	nervous system disease	Refsum disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:773	"Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." []	6634107	\N	\N	EFO	9	EFO	disease	Refsum disease
Orphanet:77300	\N	\N	"" []	Orphanet:77300	"" []	77833	\N	\N	EFO	0	EFO	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
Orphanet:139039	Orphanet:77300	\N	"" []	Orphanet:77300	"" []	222131	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
Orphanet:330206	Orphanet:77300	\N	"" []	Orphanet:77300	"" []	222132	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:77300	"" []	578187	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:77300	"" []	578188	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:77300	"" []	1161659	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:77300	"" []	1161660	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:77300	"" []	2045178	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77300	"" []	4401169	\N	\N	EFO	6	EFO	genetic disorder	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:77300	"" []	3195288	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77300	"" []	5060235	\N	\N	EFO	7	EFO	disease	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77300	"" []	5877676	\N	\N	EFO	8	EFO	disposition	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77300	"" []	6470906	\N	\N	EFO	9	EFO	material property	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77300	"" []	6848767	\N	\N	EFO	10	EFO	experimental factor	Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
Orphanet:77301	\N	\N	"" []	Orphanet:77301	"" []	77834	\N	\N	EFO	0	EFO	Monosomy 9q22.3	Monosomy 9q22.3
Orphanet:262074	Orphanet:77301	\N	"" []	Orphanet:77301	"" []	222133	\N	\N	EFO	1	EFO	Partial monosomy of the long arm of chromosome 9	Monosomy 9q22.3
Orphanet:261806	Orphanet:262074	\N	"" []	Orphanet:77301	"" []	578189	\N	\N	EFO	2	EFO	Partial deletion of chromosome 9	Monosomy 9q22.3
Orphanet:98142	Orphanet:261806	\N	"" []	Orphanet:77301	"" []	1161661	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Monosomy 9q22.3
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:77301	"" []	2045180	\N	\N	EFO	4	EFO	Autosomal monosomy	Monosomy 9q22.3
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:77301	"" []	3195290	\N	\N	EFO	5	EFO	Autosomal anomaly	Monosomy 9q22.3
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:77301	"" []	4401171	\N	\N	EFO	6	EFO	Chromosomal anomaly	Monosomy 9q22.3
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77301	"" []	5417614	\N	\N	EFO	7	EFO	genetic disorder	Monosomy 9q22.3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77301	"" []	6152556	\N	\N	EFO	8	EFO	disease	Monosomy 9q22.3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77301	"" []	6634108	\N	\N	EFO	9	EFO	disposition	Monosomy 9q22.3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77301	"" []	6926243	\N	\N	EFO	10	EFO	material property	Monosomy 9q22.3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77301	"" []	7099312	\N	\N	EFO	11	EFO	experimental factor	Monosomy 9q22.3
Orphanet:77302	\N	\N	"" []	Orphanet:77302	"" []	77835	\N	\N	EFO	0	EFO	Oculo-oto-facial dysplasia	Oculo-oto-facial dysplasia
Orphanet:330206	Orphanet:77302	\N	"" []	Orphanet:77302	"" []	222134	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Oculo-oto-facial dysplasia
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:77302	"" []	578190	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Oculo-oto-facial dysplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:77302	"" []	1161662	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Oculo-oto-facial dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77302	"" []	2045181	\N	\N	EFO	4	EFO	genetic disorder	Oculo-oto-facial dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77302	"" []	3195291	\N	\N	EFO	5	EFO	disease	Oculo-oto-facial dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77302	"" []	4401172	\N	\N	EFO	6	EFO	disposition	Oculo-oto-facial dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77302	"" []	5417615	\N	\N	EFO	7	EFO	material property	Oculo-oto-facial dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77302	"" []	6152557	\N	\N	EFO	8	EFO	experimental factor	Oculo-oto-facial dysplasia
Orphanet:77304	\N	\N	"" []	Orphanet:77304	"" []	77836	\N	\N	EFO	0	EFO	Not NOTCH3-related small vessel disease of the brain	Not NOTCH3-related small vessel disease of the brain
Orphanet:183503	Orphanet:77304	\N	"" []	Orphanet:77304	"" []	222135	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Not NOTCH3-related small vessel disease of the brain
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:77304	"" []	578191	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Not NOTCH3-related small vessel disease of the brain
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77304	"" []	1161663	\N	\N	EFO	3	EFO	genetic disorder	Not NOTCH3-related small vessel disease of the brain
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77304	"" []	2045182	\N	\N	EFO	4	EFO	disease	Not NOTCH3-related small vessel disease of the brain
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77304	"" []	3195292	\N	\N	EFO	5	EFO	disposition	Not NOTCH3-related small vessel disease of the brain
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77304	"" []	4401173	\N	\N	EFO	6	EFO	material property	Not NOTCH3-related small vessel disease of the brain
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77304	"" []	5417616	\N	\N	EFO	7	EFO	experimental factor	Not NOTCH3-related small vessel disease of the brain
Orphanet:774	\N	\N	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	77837	\N	\N	EFO	0	EFO	Hereditary hemorrhagic telangiectasia	Hereditary hemorrhagic telangiectasia
Orphanet:139027	Orphanet:774	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	222136	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Hereditary hemorrhagic telangiectasia
Orphanet:183478	Orphanet:774	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	222137	\N	\N	EFO	1	EFO	Genetic skin vascular disorder	Hereditary hemorrhagic telangiectasia
Orphanet:371436	Orphanet:774	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	222138	\N	\N	EFO	1	EFO	Genetic neurovascular malformation	Hereditary hemorrhagic telangiectasia
Orphanet:98196	Orphanet:774	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	222139	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Hereditary hemorrhagic telangiectasia
Orphanet:98613	Orphanet:774	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	222140	\N	\N	EFO	1	EFO	Conjunctival telangiectasia	Hereditary hemorrhagic telangiectasia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	578192	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hereditary hemorrhagic telangiectasia
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	578193	\N	\N	EFO	2	EFO	Genetic dermis disorder	Hereditary hemorrhagic telangiectasia
Orphanet:183503	Orphanet:371436	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	578194	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Hereditary hemorrhagic telangiectasia
Orphanet:211240	Orphanet:371436	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	578195	\N	\N	EFO	2	EFO	Genetic vascular anomaly	Hereditary hemorrhagic telangiectasia
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	578196	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hereditary hemorrhagic telangiectasia
Orphanet:98611	Orphanet:98613	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	578197	\N	\N	EFO	2	EFO	Conjunctival vascular anomaly	Hereditary hemorrhagic telangiectasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	2045187	\N	\N	EFO	4	EFO	genetic disorder	Hereditary hemorrhagic telangiectasia
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	1161665	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hereditary hemorrhagic telangiectasia
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	1161666	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary hemorrhagic telangiectasia
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	1161667	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hereditary hemorrhagic telangiectasia
Orphanet:98610	Orphanet:98611	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	1161668	\N	\N	EFO	3	EFO	Rare conjunctival disease	Hereditary hemorrhagic telangiectasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	5417618	\N	\N	EFO	7	EFO	disease	Hereditary hemorrhagic telangiectasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	2045184	\N	\N	EFO	4	EFO	genetic disorder	Hereditary hemorrhagic telangiectasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	2045185	\N	\N	EFO	4	EFO	skin disease	Hereditary hemorrhagic telangiectasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	2045186	\N	\N	EFO	4	EFO	genetic disorder	Hereditary hemorrhagic telangiectasia
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	2045188	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Hereditary hemorrhagic telangiectasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	5817846	\N	\N	EFO	8	EFO	disposition	Hereditary hemorrhagic telangiectasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	3195294	\N	\N	EFO	5	EFO	disease	Hereditary hemorrhagic telangiectasia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	3195295	\N	\N	EFO	5	EFO	Rare genetic eye disease	Hereditary hemorrhagic telangiectasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	6410326	\N	\N	EFO	9	EFO	material property	Hereditary hemorrhagic telangiectasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	4401175	\N	\N	EFO	6	EFO	genetic disorder	Hereditary hemorrhagic telangiectasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	4401176	\N	\N	EFO	6	EFO	eye disease	Hereditary hemorrhagic telangiectasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	6808146	\N	\N	EFO	10	EFO	experimental factor	Hereditary hemorrhagic telangiectasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:774	"Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." []	5417619	\N	\N	EFO	7	EFO	disease	Hereditary hemorrhagic telangiectasia
Orphanet:775	\N	\N	"" []	Orphanet:775	"" []	77838	\N	\N	EFO	0	EFO	X-linked intellectual disability, Martinez type	X-linked intellectual disability, Martinez type
Orphanet:98464	Orphanet:775	\N	"" []	Orphanet:775	"" []	222141	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Martinez type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:775	"" []	578198	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Martinez type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:775	"" []	1161669	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Martinez type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:775	"" []	2045189	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Martinez type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:775	"" []	3195296	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Martinez type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:775	"" []	4401177	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Martinez type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:775	"" []	5417620	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Martinez type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:775	"" []	6152558	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Martinez type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:775	"" []	6634109	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Martinez type
Orphanet:776	\N	\N	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	77839	\N	\N	EFO	0	EFO	X-linked intellectual disability with marfanoid habitus	X-linked intellectual disability with marfanoid habitus
Orphanet:102283	Orphanet:776	\N	"" []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	222142	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability with marfanoid habitus
Orphanet:98464	Orphanet:776	\N	"" []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	222143	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability with marfanoid habitus
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	578199	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability with marfanoid habitus
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	578200	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability with marfanoid habitus
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	1161670	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability with marfanoid habitus
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	1161671	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability with marfanoid habitus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	2045190	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability with marfanoid habitus
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	2045191	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability with marfanoid habitus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	4401179	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability with marfanoid habitus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	3195298	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability with marfanoid habitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	5183248	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability with marfanoid habitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	5998587	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability with marfanoid habitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:776	"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." []	6551669	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability with marfanoid habitus
Orphanet:777	\N	\N	"" []	Orphanet:777	"" []	77840	\N	\N	EFO	0	EFO	X-linked non-syndromic intellectual disability	X-linked non-syndromic intellectual disability
Orphanet:101685	Orphanet:777	\N	"" []	Orphanet:777	"" []	222144	\N	\N	EFO	1	EFO	Rare intellectual disability without developmental anomaly	X-linked non-syndromic intellectual disability
Orphanet:183757	Orphanet:101685	\N	"" []	Orphanet:777	"" []	578201	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	X-linked non-syndromic intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:777	"" []	1161672	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked non-syndromic intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:777	"" []	2045192	\N	\N	EFO	4	EFO	genetic disorder	X-linked non-syndromic intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:777	"" []	3195299	\N	\N	EFO	5	EFO	disease	X-linked non-syndromic intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:777	"" []	4401180	\N	\N	EFO	6	EFO	disposition	X-linked non-syndromic intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:777	"" []	5417622	\N	\N	EFO	7	EFO	material property	X-linked non-syndromic intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:777	"" []	6152560	\N	\N	EFO	8	EFO	experimental factor	X-linked non-syndromic intellectual disability
Orphanet:778	\N	\N	"" []	Orphanet:778	"" []	77841	\N	\N	EFO	0	EFO	Rett syndrome	Rett syndrome
Orphanet:166472	Orphanet:778	\N	"" []	Orphanet:778	"" []	222145	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Rett syndrome
Orphanet:168778	Orphanet:778	\N	"" []	Orphanet:778	"" []	222146	\N	\N	EFO	1	EFO	Rare pervasive developmental disorder	Rett syndrome
Orphanet:306765	Orphanet:778	\N	"" []	Orphanet:778	"" []	222147	\N	\N	EFO	1	EFO	Motor stereotypies	Rett syndrome
Orphanet:98464	Orphanet:778	\N	"" []	Orphanet:778	"" []	222148	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Rett syndrome
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:778	"" []	578202	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Rett syndrome
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:778	"" []	578203	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Rett syndrome
Orphanet:183521	Orphanet:306765	\N	"" []	Orphanet:778	"" []	578204	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Rett syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:778	"" []	578205	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Rett syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:778	"" []	1161673	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Rett syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:778	"" []	3195302	\N	\N	EFO	5	EFO	genetic disorder	Rett syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:778	"" []	1161675	\N	\N	EFO	3	EFO	movement disorder	Rett syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:778	"" []	1161676	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Rett syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:778	"" []	1161677	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Rett syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:778	"" []	4066989	\N	\N	EFO	6	EFO	disease	Rett syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:778	"" []	2045195	\N	\N	EFO	4	EFO	nervous system disease	Rett syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:778	"" []	2045196	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Rett syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:778	"" []	5060236	\N	\N	EFO	7	EFO	disposition	Rett syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:778	"" []	3195301	\N	\N	EFO	5	EFO	disease	Rett syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:778	"" []	5877677	\N	\N	EFO	8	EFO	material property	Rett syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:778	"" []	6470907	\N	\N	EFO	9	EFO	experimental factor	Rett syndrome
Orphanet:77828	\N	\N	"" []	Orphanet:77828	"" []	77842	\N	\N	EFO	0	EFO	Genetic obesity	Genetic obesity
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:77828	"" []	222149	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Genetic obesity
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:77828	"" []	222150	\N	\N	EFO	1	EFO	Genetic overgrowth/obesity syndrome	Genetic obesity
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77828	"" []	578206	\N	\N	EFO	2	EFO	genetic disorder	Genetic obesity
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:77828	"" []	578207	\N	\N	EFO	2	EFO	endocrine system disease	Genetic obesity
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:77828	"" []	578208	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Genetic obesity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77828	"" []	2045198	\N	\N	EFO	4	EFO	disease	Genetic obesity
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77828	"" []	1161679	\N	\N	EFO	3	EFO	disease	Genetic obesity
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77828	"" []	1161680	\N	\N	EFO	3	EFO	genetic disorder	Genetic obesity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77828	"" []	3000438	\N	\N	EFO	5	EFO	disposition	Genetic obesity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77828	"" []	4134310	\N	\N	EFO	6	EFO	material property	Genetic obesity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77828	"" []	5183250	\N	\N	EFO	7	EFO	experimental factor	Genetic obesity
Orphanet:77830	\N	\N	"" []	Orphanet:77830	"" []	77843	\N	\N	EFO	0	EFO	Rare genetic odontologic disease	Rare genetic odontologic disease
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:77830	"" []	222151	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic odontologic disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:77830	"" []	578209	\N	\N	EFO	2	EFO	disease	Rare genetic odontologic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:77830	"" []	1161681	\N	\N	EFO	3	EFO	disposition	Rare genetic odontologic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:77830	"" []	2045199	\N	\N	EFO	4	EFO	material property	Rare genetic odontologic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:77830	"" []	3195304	\N	\N	EFO	5	EFO	experimental factor	Rare genetic odontologic disease
Orphanet:782	\N	\N	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	77844	\N	\N	EFO	0	EFO	Axenfeld-Rieger syndrome	Axenfeld-Rieger syndrome
Orphanet:117573	Orphanet:782	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	222152	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Axenfeld-Rieger syndrome
Orphanet:330206	Orphanet:782	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	222153	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Axenfeld-Rieger syndrome
Orphanet:95495	Orphanet:782	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	222154	\N	\N	EFO	1	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Axenfeld-Rieger syndrome
Orphanet:98558	Orphanet:782	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	222155	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	Axenfeld-Rieger syndrome
Orphanet:98634	Orphanet:782	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	222156	\N	\N	EFO	1	EFO	Iridogoniodysgenesis	Axenfeld-Rieger syndrome
Orphanet:98638	Orphanet:782	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	222157	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Axenfeld-Rieger syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	578210	\N	\N	EFO	2	EFO	Anorectal malformation	Axenfeld-Rieger syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	578211	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Axenfeld-Rieger syndrome
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	578212	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	Axenfeld-Rieger syndrome
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	578213	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Axenfeld-Rieger syndrome
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	578214	\N	\N	EFO	2	EFO	Glaucoma associated with neural crest cell migration anomaly	Axenfeld-Rieger syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	578215	\N	\N	EFO	2	EFO	Rare genetic eye disease	Axenfeld-Rieger syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	1161682	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Axenfeld-Rieger syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	1161683	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Axenfeld-Rieger syndrome
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	1161684	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Axenfeld-Rieger syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	5417626	\N	\N	EFO	7	EFO	Rare genetic eye disease	Axenfeld-Rieger syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	5417627	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Axenfeld-Rieger syndrome
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	1161687	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Axenfeld-Rieger syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	5801884	\N	\N	EFO	8	EFO	genetic disorder	Axenfeld-Rieger syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	5801885	\N	\N	EFO	8	EFO	eye disease	Axenfeld-Rieger syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	2045200	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Axenfeld-Rieger syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	5801886	\N	\N	EFO	8	EFO	genetic disorder	Axenfeld-Rieger syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	2045202	\N	\N	EFO	4	EFO	Pituitary deficiency	Axenfeld-Rieger syndrome
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	2045205	\N	\N	EFO	4	EFO	Hereditary glaucoma	Axenfeld-Rieger syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	6370832	\N	\N	EFO	9	EFO	disease	Axenfeld-Rieger syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	6370833	\N	\N	EFO	9	EFO	disease	Axenfeld-Rieger syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	3195306	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Axenfeld-Rieger syndrome
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	3195307	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Axenfeld-Rieger syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	6762400	\N	\N	EFO	10	EFO	disposition	Axenfeld-Rieger syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	4401183	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Axenfeld-Rieger syndrome
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	4401184	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Axenfeld-Rieger syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	7015713	\N	\N	EFO	11	EFO	material property	Axenfeld-Rieger syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	5417624	\N	\N	EFO	7	EFO	genetic disorder	Axenfeld-Rieger syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	5417625	\N	\N	EFO	7	EFO	endocrine system disease	Axenfeld-Rieger syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	7173659	\N	\N	EFO	12	EFO	experimental factor	Axenfeld-Rieger syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:782	"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." []	6152562	\N	\N	EFO	8	EFO	disease	Axenfeld-Rieger syndrome
Orphanet:783	\N	\N	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	77845	\N	\N	EFO	0	EFO	Rubinstein-Taybi syndrome	Rubinstein-Taybi syndrome
Orphanet:102283	Orphanet:783	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	222158	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Rubinstein-Taybi syndrome
Orphanet:108987	Orphanet:783	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	222159	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Rubinstein-Taybi syndrome
Orphanet:183422	Orphanet:783	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	222160	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Rubinstein-Taybi syndrome
Orphanet:183570	Orphanet:783	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	222161	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Rubinstein-Taybi syndrome
Orphanet:183763	Orphanet:783	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	222162	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Rubinstein-Taybi syndrome
Orphanet:240371	Orphanet:783	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	222163	\N	\N	EFO	1	EFO	Syndromic obesity	Rubinstein-Taybi syndrome
Orphanet:261956	Orphanet:783	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	222164	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 16	Rubinstein-Taybi syndrome
Orphanet:69028	Orphanet:783	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	222165	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Rubinstein-Taybi syndrome
Orphanet:93547	Orphanet:783	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	222166	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Rubinstein-Taybi syndrome
Orphanet:98638	Orphanet:783	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	222167	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Rubinstein-Taybi syndrome
Orphanet:98655	Orphanet:783	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	222168	\N	\N	EFO	1	EFO	Lens shape anomaly	Rubinstein-Taybi syndrome
Orphanet:98666	Orphanet:783	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	222169	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Rubinstein-Taybi syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578216	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Rubinstein-Taybi syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578217	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Rubinstein-Taybi syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578218	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Rubinstein-Taybi syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578219	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578220	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Rubinstein-Taybi syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578221	\N	\N	EFO	2	EFO	Genetic obesity	Rubinstein-Taybi syndrome
Orphanet:261826	Orphanet:261956	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578222	\N	\N	EFO	2	EFO	Partial deletion of chromosome 16	Rubinstein-Taybi syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578223	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Rubinstein-Taybi syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578224	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Rubinstein-Taybi syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578225	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Rubinstein-Taybi syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578226	\N	\N	EFO	2	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578227	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Rubinstein-Taybi syndrome
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	578228	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Rubinstein-Taybi syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161690	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161691	\N	\N	EFO	3	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161692	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161693	\N	\N	EFO	3	EFO	genetic disorder	Rubinstein-Taybi syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	4401189	\N	\N	EFO	6	EFO	genetic disorder	Rubinstein-Taybi syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161695	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Rubinstein-Taybi syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161696	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Rubinstein-Taybi syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161697	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Rubinstein-Taybi syndrome
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161698	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Rubinstein-Taybi syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161699	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Rubinstein-Taybi syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161700	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Rubinstein-Taybi syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161701	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161702	\N	\N	EFO	3	EFO	Rare genetic renal disease	Rubinstein-Taybi syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	4401190	\N	\N	EFO	6	EFO	genetic disorder	Rubinstein-Taybi syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	4401191	\N	\N	EFO	6	EFO	eye disease	Rubinstein-Taybi syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161705	\N	\N	EFO	3	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	1161706	\N	\N	EFO	3	EFO	Retinal dystrophy	Rubinstein-Taybi syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	6152563	\N	\N	EFO	8	EFO	disease	Rubinstein-Taybi syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	2045212	\N	\N	EFO	4	EFO	genetic disorder	Rubinstein-Taybi syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	2045213	\N	\N	EFO	4	EFO	genetic disorder	Rubinstein-Taybi syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	2045214	\N	\N	EFO	4	EFO	endocrine system disease	Rubinstein-Taybi syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	2045215	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	2045216	\N	\N	EFO	4	EFO	Autosomal monosomy	Rubinstein-Taybi syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	2045217	\N	\N	EFO	4	EFO	Rare genetic bone disease	Rubinstein-Taybi syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	2045218	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Rubinstein-Taybi syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	2045219	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	2045220	\N	\N	EFO	4	EFO	genetic disorder	Rubinstein-Taybi syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	5028479	\N	\N	EFO	7	EFO	disease	Rubinstein-Taybi syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	2045222	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Rubinstein-Taybi syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	6378985	\N	\N	EFO	9	EFO	disposition	Rubinstein-Taybi syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	3195310	\N	\N	EFO	5	EFO	disease	Rubinstein-Taybi syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	3195312	\N	\N	EFO	5	EFO	Autosomal anomaly	Rubinstein-Taybi syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	3195313	\N	\N	EFO	5	EFO	genetic disorder	Rubinstein-Taybi syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	3195314	\N	\N	EFO	5	EFO	bone disease	Rubinstein-Taybi syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	3195315	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Rubinstein-Taybi syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	3195316	\N	\N	EFO	5	EFO	Rare genetic eye disease	Rubinstein-Taybi syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	6778816	\N	\N	EFO	10	EFO	material property	Rubinstein-Taybi syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	4401187	\N	\N	EFO	6	EFO	Chromosomal anomaly	Rubinstein-Taybi syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	4401188	\N	\N	EFO	6	EFO	skeletal system disease	Rubinstein-Taybi syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	7030008	\N	\N	EFO	11	EFO	experimental factor	Rubinstein-Taybi syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	5417630	\N	\N	EFO	7	EFO	genetic disorder	Rubinstein-Taybi syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:783	"Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." []	5417631	\N	\N	EFO	7	EFO	disease	Rubinstein-Taybi syndrome
Orphanet:786	\N	\N	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	77846	\N	\N	EFO	0	EFO	Glucocorticoid resistance	Glucocorticoid resistance
Orphanet:181412	Orphanet:786	\N	"" []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	222170	\N	\N	EFO	1	EFO	Adrenogenital syndrome	Glucocorticoid resistance
Orphanet:90776	Orphanet:786	\N	"" []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	222171	\N	\N	EFO	1	EFO	46,XX disorder of sex development induced by fetal androgens excess	Glucocorticoid resistance
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	578229	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Glucocorticoid resistance
Orphanet:325665	Orphanet:90776	\N	"" []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	578230	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Glucocorticoid resistance
Orphanet:325697	Orphanet:90776	\N	"" []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	578231	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	Glucocorticoid resistance
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	1161707	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Glucocorticoid resistance
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	1161708	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Glucocorticoid resistance
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	1161709	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Glucocorticoid resistance
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	3195321	\N	\N	EFO	5	EFO	genetic disorder	Glucocorticoid resistance
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	3195322	\N	\N	EFO	5	EFO	endocrine system disease	Glucocorticoid resistance
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	2045225	\N	\N	EFO	4	EFO	genetic disorder	Glucocorticoid resistance
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	2045226	\N	\N	EFO	4	EFO	reproductive system disease	Glucocorticoid resistance
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	2045227	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Glucocorticoid resistance
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	2045228	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Glucocorticoid resistance
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	2045229	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Glucocorticoid resistance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	4134314	\N	\N	EFO	6	EFO	disease	Glucocorticoid resistance
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	4134315	\N	\N	EFO	6	EFO	disease	Glucocorticoid resistance
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	3195319	\N	\N	EFO	5	EFO	disease	Glucocorticoid resistance
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	3195320	\N	\N	EFO	5	EFO	genetic disorder	Glucocorticoid resistance
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	3195323	\N	\N	EFO	5	EFO	genetic disorder	Glucocorticoid resistance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	5183253	\N	\N	EFO	7	EFO	disposition	Glucocorticoid resistance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	5998591	\N	\N	EFO	8	EFO	material property	Glucocorticoid resistance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:786	"An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." []	6551670	\N	\N	EFO	9	EFO	experimental factor	Glucocorticoid resistance
Orphanet:79	\N	\N	"" []	Orphanet:79	"" []	77847	\N	\N	EFO	0	EFO	Congenital alpha2 antiplasmin deficiency	Congenital alpha2 antiplasmin deficiency
Orphanet:68334	Orphanet:79	\N	"" []	Orphanet:79	"" []	222172	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Congenital alpha2 antiplasmin deficiency
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:79	"" []	578232	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Congenital alpha2 antiplasmin deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:79	"" []	1161710	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital alpha2 antiplasmin deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79	"" []	2045230	\N	\N	EFO	4	EFO	genetic disorder	Congenital alpha2 antiplasmin deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:79	"" []	2045231	\N	\N	EFO	4	EFO	hematological system disease	Congenital alpha2 antiplasmin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79	"" []	3195324	\N	\N	EFO	5	EFO	disease	Congenital alpha2 antiplasmin deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79	"" []	3195325	\N	\N	EFO	5	EFO	disease	Congenital alpha2 antiplasmin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79	"" []	4401193	\N	\N	EFO	6	EFO	disposition	Congenital alpha2 antiplasmin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79	"" []	5417633	\N	\N	EFO	7	EFO	material property	Congenital alpha2 antiplasmin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79	"" []	6152565	\N	\N	EFO	8	EFO	experimental factor	Congenital alpha2 antiplasmin deficiency
Orphanet:790	\N	\N	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	77848	\N	\N	EFO	0	EFO	Retinoblastoma	Retinoblastoma
EFO:0003824	Orphanet:790	\N	"Tumors or cancer of the EYE." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	222173	\N	\N	EFO	1	EFO	eye neoplasm	Retinoblastoma
Orphanet:183619	Orphanet:790	\N	"" []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	222174	\N	\N	EFO	1	EFO	Genetic eye tumor	Retinoblastoma
Orphanet:98657	Orphanet:790	\N	"" []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	222175	\N	\N	EFO	1	EFO	Genetic vitreous-retinal disease	Retinoblastoma
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	578233	\N	\N	EFO	2	EFO	neoplasm	Retinoblastoma
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	578234	\N	\N	EFO	2	EFO	eye disease	Retinoblastoma
EFO:0003966	Orphanet:183619	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	578235	\N	\N	EFO	2	EFO	eye disease	Retinoblastoma
Orphanet:68336	Orphanet:183619	\N	"" []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	578236	\N	\N	EFO	2	EFO	Rare genetic tumor	Retinoblastoma
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	578237	\N	\N	EFO	2	EFO	Rare genetic eye disease	Retinoblastoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	2045234	\N	\N	EFO	4	EFO	disease	Retinoblastoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	2045235	\N	\N	EFO	4	EFO	disease	Retinoblastoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	1161713	\N	\N	EFO	3	EFO	genetic disorder	Retinoblastoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	1161714	\N	\N	EFO	3	EFO	neoplasm	Retinoblastoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	1161715	\N	\N	EFO	3	EFO	genetic disorder	Retinoblastoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	1161716	\N	\N	EFO	3	EFO	eye disease	Retinoblastoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	3000443	\N	\N	EFO	5	EFO	disposition	Retinoblastoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	2045233	\N	\N	EFO	4	EFO	disease	Retinoblastoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	4134316	\N	\N	EFO	6	EFO	material property	Retinoblastoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:790	"Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms)." []	5183254	\N	\N	EFO	7	EFO	experimental factor	Retinoblastoma
Orphanet:79022	\N	\N	"" []	Orphanet:79022	"" []	77849	\N	\N	EFO	0	EFO	Simpson-Golabi-Behmel syndrome type 2	Simpson-Golabi-Behmel syndrome type 2
Orphanet:156207	Orphanet:79022	\N	"" []	Orphanet:79022	"" []	222176	\N	\N	EFO	1	EFO	Macroglossia	Simpson-Golabi-Behmel syndrome type 2
Orphanet:156237	Orphanet:79022	\N	"" []	Orphanet:79022	"" []	222177	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Simpson-Golabi-Behmel syndrome type 2
Orphanet:93460	Orphanet:79022	\N	"" []	Orphanet:79022	"" []	222178	\N	\N	EFO	1	EFO	Overgrowth syndrome	Simpson-Golabi-Behmel syndrome type 2
Orphanet:98464	Orphanet:79022	\N	"" []	Orphanet:79022	"" []	222179	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Simpson-Golabi-Behmel syndrome type 2
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:79022	"" []	578238	\N	\N	EFO	2	EFO	Genetic head and neck malformation	Simpson-Golabi-Behmel syndrome type 2
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:79022	"" []	578239	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Simpson-Golabi-Behmel syndrome type 2
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:79022	"" []	578240	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Simpson-Golabi-Behmel syndrome type 2
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:79022	"" []	578241	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Simpson-Golabi-Behmel syndrome type 2
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:79022	"" []	2045237	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Simpson-Golabi-Behmel syndrome type 2
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:79022	"" []	1161718	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Simpson-Golabi-Behmel syndrome type 2
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:79022	"" []	1161719	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Simpson-Golabi-Behmel syndrome type 2
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79022	"" []	1161720	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Simpson-Golabi-Behmel syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79022	"" []	3000444	\N	\N	EFO	5	EFO	genetic disorder	Simpson-Golabi-Behmel syndrome type 2
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79022	"" []	2045238	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Simpson-Golabi-Behmel syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79022	"" []	4134317	\N	\N	EFO	6	EFO	disease	Simpson-Golabi-Behmel syndrome type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79022	"" []	3195328	\N	\N	EFO	5	EFO	genetic disorder	Simpson-Golabi-Behmel syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79022	"" []	5183255	\N	\N	EFO	7	EFO	disposition	Simpson-Golabi-Behmel syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79022	"" []	5998592	\N	\N	EFO	8	EFO	material property	Simpson-Golabi-Behmel syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79022	"" []	6551671	\N	\N	EFO	9	EFO	experimental factor	Simpson-Golabi-Behmel syndrome type 2
Orphanet:79062	\N	\N	"" []	Orphanet:79062	"" []	77850	\N	\N	EFO	0	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of amino acid and other organic acid metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79062	"" []	222180	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Disorder of amino acid and other organic acid metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79062	"" []	578242	\N	\N	EFO	2	EFO	genetic disorder	Disorder of amino acid and other organic acid metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79062	"" []	578243	\N	\N	EFO	2	EFO	metabolic disease	Disorder of amino acid and other organic acid metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79062	"" []	1161721	\N	\N	EFO	3	EFO	disease	Disorder of amino acid and other organic acid metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79062	"" []	1161722	\N	\N	EFO	3	EFO	disease	Disorder of amino acid and other organic acid metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79062	"" []	2045239	\N	\N	EFO	4	EFO	disposition	Disorder of amino acid and other organic acid metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79062	"" []	3195329	\N	\N	EFO	5	EFO	material property	Disorder of amino acid and other organic acid metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79062	"" []	4401196	\N	\N	EFO	6	EFO	experimental factor	Disorder of amino acid and other organic acid metabolism
Orphanet:79076	\N	\N	"" []	Orphanet:79076	"" []	77851	\N	\N	EFO	0	EFO	Juvenile polyposis of infancy	Juvenile polyposis of infancy
Orphanet:2929	Orphanet:79076	\N	"" []	Orphanet:79076	"" []	222181	\N	\N	EFO	1	EFO	Juvenile polyposis syndrome	Juvenile polyposis of infancy
Orphanet:140162	Orphanet:2929	\N	"" []	Orphanet:79076	"" []	578244	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Juvenile polyposis of infancy
Orphanet:363314	Orphanet:2929	\N	"" []	Orphanet:79076	"" []	578245	\N	\N	EFO	2	EFO	Genetic intestinal polyposis	Juvenile polyposis of infancy
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79076	"" []	1161723	\N	\N	EFO	3	EFO	genetic disorder	Juvenile polyposis of infancy
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:79076	"" []	1161724	\N	\N	EFO	3	EFO	Genetic intestinal disease	Juvenile polyposis of infancy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79076	"" []	4401199	\N	\N	EFO	6	EFO	disease	Juvenile polyposis of infancy
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79076	"" []	2045241	\N	\N	EFO	4	EFO	digestive system disease	Juvenile polyposis of infancy
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:79076	"" []	2045242	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Juvenile polyposis of infancy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79076	"" []	5060239	\N	\N	EFO	7	EFO	disposition	Juvenile polyposis of infancy
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79076	"" []	3195331	\N	\N	EFO	5	EFO	disease	Juvenile polyposis of infancy
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79076	"" []	3195332	\N	\N	EFO	5	EFO	genetic disorder	Juvenile polyposis of infancy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79076	"" []	5877680	\N	\N	EFO	8	EFO	material property	Juvenile polyposis of infancy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79076	"" []	6470910	\N	\N	EFO	9	EFO	experimental factor	Juvenile polyposis of infancy
Orphanet:79083	\N	\N	"" []	Orphanet:79083	"" []	77852	\N	\N	EFO	0	EFO	Familial partial lipodystrophy associated with PPARG mutations	Familial partial lipodystrophy associated with PPARG mutations
Orphanet:98306	Orphanet:79083	\N	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	Orphanet:79083	"" []	222182	\N	\N	EFO	1	EFO	Familial partial lipodystrophy	Familial partial lipodystrophy associated with PPARG mutations
EFO:1000727	Orphanet:98306	\N	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	Orphanet:79083	"" []	578246	\N	\N	EFO	2	EFO	lipodystrophy	Familial partial lipodystrophy associated with PPARG mutations
Orphanet:98305	Orphanet:98306	\N	"" []	Orphanet:79083	"" []	578247	\N	\N	EFO	2	EFO	Genetic lipodystrophy	Familial partial lipodystrophy associated with PPARG mutations
EFO:0000701	EFO:1000727	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79083	"" []	1161725	\N	\N	EFO	3	EFO	skin disease	Familial partial lipodystrophy associated with PPARG mutations
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:79083	"" []	1161726	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial partial lipodystrophy associated with PPARG mutations
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:79083	"" []	1161727	\N	\N	EFO	3	EFO	Primary lipodystrophy	Familial partial lipodystrophy associated with PPARG mutations
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79083	"" []	5417638	\N	\N	EFO	7	EFO	disease	Familial partial lipodystrophy associated with PPARG mutations
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79083	"" []	2045244	\N	\N	EFO	4	EFO	genetic disorder	Familial partial lipodystrophy associated with PPARG mutations
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79083	"" []	2045245	\N	\N	EFO	4	EFO	endocrine system disease	Familial partial lipodystrophy associated with PPARG mutations
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:79083	"" []	2045246	\N	\N	EFO	4	EFO	Genetic subcutaneous tissue disorder	Familial partial lipodystrophy associated with PPARG mutations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79083	"" []	5817848	\N	\N	EFO	8	EFO	disposition	Familial partial lipodystrophy associated with PPARG mutations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79083	"" []	5417637	\N	\N	EFO	7	EFO	disease	Familial partial lipodystrophy associated with PPARG mutations
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79083	"" []	3195335	\N	\N	EFO	5	EFO	disease	Familial partial lipodystrophy associated with PPARG mutations
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:79083	"" []	3195336	\N	\N	EFO	5	EFO	Rare genetic skin disease	Familial partial lipodystrophy associated with PPARG mutations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79083	"" []	6410328	\N	\N	EFO	9	EFO	material property	Familial partial lipodystrophy associated with PPARG mutations
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79083	"" []	4401202	\N	\N	EFO	6	EFO	genetic disorder	Familial partial lipodystrophy associated with PPARG mutations
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79083	"" []	4401203	\N	\N	EFO	6	EFO	skin disease	Familial partial lipodystrophy associated with PPARG mutations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79083	"" []	6808148	\N	\N	EFO	10	EFO	experimental factor	Familial partial lipodystrophy associated with PPARG mutations
Orphanet:79084	\N	\N	"" []	Orphanet:79084	"" []	77853	\N	\N	EFO	0	EFO	Familial partial lipodystrophy, Kbberling type	Familial partial lipodystrophy, Kbberling type
Orphanet:98306	Orphanet:79084	\N	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	Orphanet:79084	"" []	222183	\N	\N	EFO	1	EFO	Familial partial lipodystrophy	Familial partial lipodystrophy, Kbberling type
EFO:1000727	Orphanet:98306	\N	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	Orphanet:79084	"" []	578248	\N	\N	EFO	2	EFO	lipodystrophy	Familial partial lipodystrophy, Kbberling type
Orphanet:98305	Orphanet:98306	\N	"" []	Orphanet:79084	"" []	578249	\N	\N	EFO	2	EFO	Genetic lipodystrophy	Familial partial lipodystrophy, Kbberling type
EFO:0000701	EFO:1000727	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79084	"" []	1161728	\N	\N	EFO	3	EFO	skin disease	Familial partial lipodystrophy, Kbberling type
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:79084	"" []	1161729	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial partial lipodystrophy, Kbberling type
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:79084	"" []	1161730	\N	\N	EFO	3	EFO	Primary lipodystrophy	Familial partial lipodystrophy, Kbberling type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79084	"" []	5417641	\N	\N	EFO	7	EFO	disease	Familial partial lipodystrophy, Kbberling type
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79084	"" []	2045248	\N	\N	EFO	4	EFO	genetic disorder	Familial partial lipodystrophy, Kbberling type
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79084	"" []	2045249	\N	\N	EFO	4	EFO	endocrine system disease	Familial partial lipodystrophy, Kbberling type
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:79084	"" []	2045250	\N	\N	EFO	4	EFO	Genetic subcutaneous tissue disorder	Familial partial lipodystrophy, Kbberling type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79084	"" []	5817849	\N	\N	EFO	8	EFO	disposition	Familial partial lipodystrophy, Kbberling type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79084	"" []	5417640	\N	\N	EFO	7	EFO	disease	Familial partial lipodystrophy, Kbberling type
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79084	"" []	3195339	\N	\N	EFO	5	EFO	disease	Familial partial lipodystrophy, Kbberling type
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:79084	"" []	3195340	\N	\N	EFO	5	EFO	Rare genetic skin disease	Familial partial lipodystrophy, Kbberling type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79084	"" []	6410329	\N	\N	EFO	9	EFO	material property	Familial partial lipodystrophy, Kbberling type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79084	"" []	4401206	\N	\N	EFO	6	EFO	genetic disorder	Familial partial lipodystrophy, Kbberling type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79084	"" []	4401207	\N	\N	EFO	6	EFO	skin disease	Familial partial lipodystrophy, Kbberling type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79084	"" []	6808149	\N	\N	EFO	10	EFO	experimental factor	Familial partial lipodystrophy, Kbberling type
Orphanet:79085	\N	\N	"" []	Orphanet:79085	"" []	77854	\N	\N	EFO	0	EFO	Familial partial lipodystrophy due to AKT2 mutations	Familial partial lipodystrophy due to AKT2 mutations
Orphanet:98306	Orphanet:79085	\N	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	Orphanet:79085	"" []	222184	\N	\N	EFO	1	EFO	Familial partial lipodystrophy	Familial partial lipodystrophy due to AKT2 mutations
EFO:1000727	Orphanet:98306	\N	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	Orphanet:79085	"" []	578250	\N	\N	EFO	2	EFO	lipodystrophy	Familial partial lipodystrophy due to AKT2 mutations
Orphanet:98305	Orphanet:98306	\N	"" []	Orphanet:79085	"" []	578251	\N	\N	EFO	2	EFO	Genetic lipodystrophy	Familial partial lipodystrophy due to AKT2 mutations
EFO:0000701	EFO:1000727	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79085	"" []	1161731	\N	\N	EFO	3	EFO	skin disease	Familial partial lipodystrophy due to AKT2 mutations
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:79085	"" []	1161732	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial partial lipodystrophy due to AKT2 mutations
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:79085	"" []	1161733	\N	\N	EFO	3	EFO	Primary lipodystrophy	Familial partial lipodystrophy due to AKT2 mutations
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79085	"" []	5417644	\N	\N	EFO	7	EFO	disease	Familial partial lipodystrophy due to AKT2 mutations
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79085	"" []	2045252	\N	\N	EFO	4	EFO	genetic disorder	Familial partial lipodystrophy due to AKT2 mutations
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79085	"" []	2045253	\N	\N	EFO	4	EFO	endocrine system disease	Familial partial lipodystrophy due to AKT2 mutations
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:79085	"" []	2045254	\N	\N	EFO	4	EFO	Genetic subcutaneous tissue disorder	Familial partial lipodystrophy due to AKT2 mutations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79085	"" []	5817850	\N	\N	EFO	8	EFO	disposition	Familial partial lipodystrophy due to AKT2 mutations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79085	"" []	5417643	\N	\N	EFO	7	EFO	disease	Familial partial lipodystrophy due to AKT2 mutations
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79085	"" []	3195343	\N	\N	EFO	5	EFO	disease	Familial partial lipodystrophy due to AKT2 mutations
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:79085	"" []	3195344	\N	\N	EFO	5	EFO	Rare genetic skin disease	Familial partial lipodystrophy due to AKT2 mutations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79085	"" []	6410330	\N	\N	EFO	9	EFO	material property	Familial partial lipodystrophy due to AKT2 mutations
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79085	"" []	4401210	\N	\N	EFO	6	EFO	genetic disorder	Familial partial lipodystrophy due to AKT2 mutations
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79085	"" []	4401211	\N	\N	EFO	6	EFO	skin disease	Familial partial lipodystrophy due to AKT2 mutations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79085	"" []	6808150	\N	\N	EFO	10	EFO	experimental factor	Familial partial lipodystrophy due to AKT2 mutations
Orphanet:79091	\N	\N	"" []	Orphanet:79091	"" []	77855	\N	\N	EFO	0	EFO	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
Orphanet:206662	Orphanet:79091	\N	"" []	Orphanet:79091	"" []	222185	\N	\N	EFO	1	EFO	Inclusion myopathy	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
Orphanet:206656	Orphanet:206662	\N	"" []	Orphanet:79091	"" []	578252	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:79091	"" []	1161734	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:79091	"" []	2045255	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:79091	"" []	3195345	\N	\N	EFO	5	EFO	muscular disease	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:79091	"" []	3195346	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79091	"" []	4401212	\N	\N	EFO	6	EFO	skeletal system disease	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79091	"" []	4401213	\N	\N	EFO	6	EFO	genetic disorder	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79091	"" []	5417645	\N	\N	EFO	7	EFO	disease	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79091	"" []	5417646	\N	\N	EFO	7	EFO	disease	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79091	"" []	6152567	\N	\N	EFO	8	EFO	disposition	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79091	"" []	6634110	\N	\N	EFO	9	EFO	material property	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79091	"" []	6926244	\N	\N	EFO	10	EFO	experimental factor	Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
Orphanet:79094	\N	\N	"" []	Orphanet:79094	"" []	77856	\N	\N	EFO	0	EFO	Grange syndrome	Grange syndrome
Orphanet:139030	Orphanet:79094	\N	"" []	Orphanet:79094	"" []	222186	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Grange syndrome
Orphanet:330206	Orphanet:79094	\N	"" []	Orphanet:79094	"" []	222187	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Grange syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:79094	"" []	578253	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Grange syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:79094	"" []	578254	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Grange syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79094	"" []	2045257	\N	\N	EFO	4	EFO	genetic disorder	Grange syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:79094	"" []	1161736	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Grange syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79094	"" []	3000445	\N	\N	EFO	5	EFO	disease	Grange syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79094	"" []	4134318	\N	\N	EFO	6	EFO	disposition	Grange syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79094	"" []	5183260	\N	\N	EFO	7	EFO	material property	Grange syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79094	"" []	5998597	\N	\N	EFO	8	EFO	experimental factor	Grange syndrome
Orphanet:79095	\N	\N	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	77857	\N	\N	EFO	0	EFO	Congenital bile acid synthesis defect type 4	Congenital bile acid synthesis defect type 4
Orphanet:163631	Orphanet:79095	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	222188	\N	\N	EFO	1	EFO	Bile acid synthesis defect with cholestasis and malabsorption	Congenital bile acid synthesis defect type 4
Orphanet:207018	Orphanet:79095	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	222189	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Congenital bile acid synthesis defect type 4
Orphanet:309810	Orphanet:79095	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	222190	\N	\N	EFO	1	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	Congenital bile acid synthesis defect type 4
Orphanet:284385	Orphanet:163631	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	578255	\N	\N	EFO	2	EFO	Familial intrahepatic cholestasis	Congenital bile acid synthesis defect type 4
Orphanet:79168	Orphanet:163631	\N	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	578256	\N	\N	EFO	2	EFO	Disorder of bile acid synthesis	Congenital bile acid synthesis defect type 4
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	578257	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Congenital bile acid synthesis defect type 4
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	578258	\N	\N	EFO	2	EFO	Peroxisomal disease	Congenital bile acid synthesis defect type 4
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	1161737	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Congenital bile acid synthesis defect type 4
Orphanet:79226	Orphanet:79168	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	1161738	\N	\N	EFO	3	EFO	Sterol metabolism disorder	Congenital bile acid synthesis defect type 4
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	1161739	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Congenital bile acid synthesis defect type 4
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	1161740	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Congenital bile acid synthesis defect type 4
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	2045258	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Congenital bile acid synthesis defect type 4
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	2045259	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Congenital bile acid synthesis defect type 4
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	2045260	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital bile acid synthesis defect type 4
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	4401217	\N	\N	EFO	6	EFO	genetic disorder	Congenital bile acid synthesis defect type 4
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	4401218	\N	\N	EFO	6	EFO	metabolic disease	Congenital bile acid synthesis defect type 4
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	3195348	\N	\N	EFO	5	EFO	digestive system disease	Congenital bile acid synthesis defect type 4
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	3195349	\N	\N	EFO	5	EFO	genetic disorder	Congenital bile acid synthesis defect type 4
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	3195350	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Congenital bile acid synthesis defect type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	3195351	\N	\N	EFO	5	EFO	genetic disorder	Congenital bile acid synthesis defect type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	5060240	\N	\N	EFO	7	EFO	disease	Congenital bile acid synthesis defect type 4
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	5060241	\N	\N	EFO	7	EFO	disease	Congenital bile acid synthesis defect type 4
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	4401215	\N	\N	EFO	6	EFO	disease	Congenital bile acid synthesis defect type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	5877681	\N	\N	EFO	8	EFO	disposition	Congenital bile acid synthesis defect type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	6470911	\N	\N	EFO	9	EFO	material property	Congenital bile acid synthesis defect type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79095	"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." []	6848768	\N	\N	EFO	10	EFO	experimental factor	Congenital bile acid synthesis defect type 4
Orphanet:79096	\N	\N	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	77858	\N	\N	EFO	0	EFO	Pyridoxal phosphate-responsive seizures	Pyridoxal phosphate-responsive seizures
Orphanet:309833	Orphanet:79096	\N	"" []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	222191	\N	\N	EFO	1	EFO	Disorder of other vitamins and cofactors metabolism and transport	Pyridoxal phosphate-responsive seizures
Orphanet:68385	Orphanet:79096	\N	"" []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	222192	\N	\N	EFO	1	EFO	Neurometabolic disease	Pyridoxal phosphate-responsive seizures
Orphanet:79192	Orphanet:79096	\N	"" []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	222193	\N	\N	EFO	1	EFO	Disorder of pyridoxine metabolism	Pyridoxal phosphate-responsive seizures
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	578259	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Pyridoxal phosphate-responsive seizures
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	578260	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Pyridoxal phosphate-responsive seizures
Orphanet:79214	Orphanet:79192	\N	"" []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	578261	\N	\N	EFO	2	EFO	Disorder of biogenic amine metabolism and transport	Pyridoxal phosphate-responsive seizures
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	1161741	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Pyridoxal phosphate-responsive seizures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	1161742	\N	\N	EFO	3	EFO	genetic disorder	Pyridoxal phosphate-responsive seizures
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	1161743	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Pyridoxal phosphate-responsive seizures
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	2045263	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Pyridoxal phosphate-responsive seizures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	4134320	\N	\N	EFO	6	EFO	disease	Pyridoxal phosphate-responsive seizures
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	3195354	\N	\N	EFO	5	EFO	genetic disorder	Pyridoxal phosphate-responsive seizures
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	3195355	\N	\N	EFO	5	EFO	metabolic disease	Pyridoxal phosphate-responsive seizures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	5060242	\N	\N	EFO	7	EFO	disposition	Pyridoxal phosphate-responsive seizures
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	4134321	\N	\N	EFO	6	EFO	disease	Pyridoxal phosphate-responsive seizures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	5877682	\N	\N	EFO	8	EFO	material property	Pyridoxal phosphate-responsive seizures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79096	"Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." []	6470912	\N	\N	EFO	9	EFO	experimental factor	Pyridoxal phosphate-responsive seizures
Orphanet:79097	\N	\N	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	77859	\N	\N	EFO	0	EFO	Folinic acid-responsive seizures	Folinic acid-responsive seizures
Orphanet:68385	Orphanet:79097	\N	"" []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	222194	\N	\N	EFO	1	EFO	Neurometabolic disease	Folinic acid-responsive seizures
Orphanet:79219	Orphanet:79097	\N	"" []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	222195	\N	\N	EFO	1	EFO	Metabolic disease involving other neurotransmitter deficiency	Folinic acid-responsive seizures
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	578262	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Folinic acid-responsive seizures
Orphanet:79214	Orphanet:79219	\N	"" []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	578263	\N	\N	EFO	2	EFO	Disorder of biogenic amine metabolism and transport	Folinic acid-responsive seizures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	1161744	\N	\N	EFO	3	EFO	genetic disorder	Folinic acid-responsive seizures
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	1161745	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Folinic acid-responsive seizures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	3195360	\N	\N	EFO	5	EFO	disease	Folinic acid-responsive seizures
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	2045268	\N	\N	EFO	4	EFO	genetic disorder	Folinic acid-responsive seizures
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	2045269	\N	\N	EFO	4	EFO	metabolic disease	Folinic acid-responsive seizures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	4134322	\N	\N	EFO	6	EFO	disposition	Folinic acid-responsive seizures
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	3195361	\N	\N	EFO	5	EFO	disease	Folinic acid-responsive seizures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	5183263	\N	\N	EFO	7	EFO	material property	Folinic acid-responsive seizures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79097	"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." []	5998600	\N	\N	EFO	8	EFO	experimental factor	Folinic acid-responsive seizures
Orphanet:791	\N	\N	"Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." []	Orphanet:791	"Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." []	77860	\N	\N	EFO	0	EFO	Retinitis pigmentosa	Retinitis pigmentosa
Orphanet:71862	Orphanet:791	\N	"" []	Orphanet:791	"Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." []	222196	\N	\N	EFO	1	EFO	Retinal dystrophy	Retinitis pigmentosa
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:791	"Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." []	578264	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Retinitis pigmentosa
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:791	"Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." []	1161746	\N	\N	EFO	3	EFO	Rare genetic eye disease	Retinitis pigmentosa
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:791	"Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." []	2045270	\N	\N	EFO	4	EFO	genetic disorder	Retinitis pigmentosa
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:791	"Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." []	2045271	\N	\N	EFO	4	EFO	eye disease	Retinitis pigmentosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:791	"Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." []	3195362	\N	\N	EFO	5	EFO	disease	Retinitis pigmentosa
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:791	"Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." []	3195363	\N	\N	EFO	5	EFO	disease	Retinitis pigmentosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:791	"Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." []	4401222	\N	\N	EFO	6	EFO	disposition	Retinitis pigmentosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:791	"Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." []	5417651	\N	\N	EFO	7	EFO	material property	Retinitis pigmentosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:791	"Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." []	6152569	\N	\N	EFO	8	EFO	experimental factor	Retinitis pigmentosa
Orphanet:79100	\N	\N	"" []	Orphanet:79100	"" []	77861	\N	\N	EFO	0	EFO	Atrophoderma vermiculata	Atrophoderma vermiculata
Orphanet:498	Orphanet:79100	\N	"" []	Orphanet:79100	"" []	222197	\N	\N	EFO	1	EFO	Keratosis pilaris atrophicans	Atrophoderma vermiculata
Orphanet:79360	Orphanet:498	\N	"" []	Orphanet:79100	"" []	578265	\N	\N	EFO	2	EFO	Other genetic epidermal disease	Atrophoderma vermiculata
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:79100	"" []	1161747	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Atrophoderma vermiculata
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79100	"" []	2045272	\N	\N	EFO	4	EFO	Rare genetic skin disease	Atrophoderma vermiculata
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79100	"" []	3195364	\N	\N	EFO	5	EFO	genetic disorder	Atrophoderma vermiculata
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79100	"" []	3195365	\N	\N	EFO	5	EFO	skin disease	Atrophoderma vermiculata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79100	"" []	4401223	\N	\N	EFO	6	EFO	disease	Atrophoderma vermiculata
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79100	"" []	4401224	\N	\N	EFO	6	EFO	disease	Atrophoderma vermiculata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79100	"" []	5417652	\N	\N	EFO	7	EFO	disposition	Atrophoderma vermiculata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79100	"" []	6152570	\N	\N	EFO	8	EFO	material property	Atrophoderma vermiculata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79100	"" []	6634111	\N	\N	EFO	9	EFO	experimental factor	Atrophoderma vermiculata
Orphanet:79101	\N	\N	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	77862	\N	\N	EFO	0	EFO	Hyperprolinemia type 2	Hyperprolinemia type 2
Orphanet:289866	Orphanet:79101	\N	"" []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	222198	\N	\N	EFO	1	EFO	Disorder of proline metabolism	Hyperprolinemia type 2
Orphanet:68385	Orphanet:79101	\N	"" []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	222199	\N	\N	EFO	1	EFO	Neurometabolic disease	Hyperprolinemia type 2
Orphanet:79185	Orphanet:289866	\N	"" []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	578266	\N	\N	EFO	2	EFO	Disorder of ornithine or proline metabolism	Hyperprolinemia type 2
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	578267	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hyperprolinemia type 2
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	1161748	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Hyperprolinemia type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	1161749	\N	\N	EFO	3	EFO	genetic disorder	Hyperprolinemia type 2
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	2045273	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hyperprolinemia type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	4401225	\N	\N	EFO	6	EFO	disease	Hyperprolinemia type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	3195366	\N	\N	EFO	5	EFO	genetic disorder	Hyperprolinemia type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	3195367	\N	\N	EFO	5	EFO	metabolic disease	Hyperprolinemia type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	5060243	\N	\N	EFO	7	EFO	disposition	Hyperprolinemia type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	4401226	\N	\N	EFO	6	EFO	disease	Hyperprolinemia type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	5877683	\N	\N	EFO	8	EFO	material property	Hyperprolinemia type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79101	"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." []	6470913	\N	\N	EFO	9	EFO	experimental factor	Hyperprolinemia type 2
Orphanet:79102	\N	\N	"Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." []	Orphanet:79102	"Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." []	77863	\N	\N	EFO	0	EFO	Thyrotoxic periodic paralysis	Thyrotoxic periodic paralysis
EFO:0002970	Orphanet:79102	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:79102	"Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." []	222200	\N	\N	EFO	1	EFO	muscular disease	Thyrotoxic periodic paralysis
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79102	"Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." []	578268	\N	\N	EFO	2	EFO	skeletal system disease	Thyrotoxic periodic paralysis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79102	"Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." []	1161750	\N	\N	EFO	3	EFO	disease	Thyrotoxic periodic paralysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79102	"Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." []	2045275	\N	\N	EFO	4	EFO	disposition	Thyrotoxic periodic paralysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79102	"Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." []	3195369	\N	\N	EFO	5	EFO	material property	Thyrotoxic periodic paralysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79102	"Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." []	4401228	\N	\N	EFO	6	EFO	experimental factor	Thyrotoxic periodic paralysis
Orphanet:79106	\N	\N	"" []	Orphanet:79106	"" []	77864	\N	\N	EFO	0	EFO	Eiken syndrome	Eiken syndrome
Orphanet:93429	Orphanet:79106	\N	"" []	Orphanet:79106	"" []	222201	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Eiken syndrome
Orphanet:93447	Orphanet:79106	\N	"" []	Orphanet:79106	"" []	222202	\N	\N	EFO	1	EFO	Primary bone dysplasia with defective bone mineralization	Eiken syndrome
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:79106	"" []	578269	\N	\N	EFO	2	EFO	Primary bone dysplasia	Eiken syndrome
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:79106	"" []	578270	\N	\N	EFO	2	EFO	Primary bone dysplasia	Eiken syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:79106	"" []	1161751	\N	\N	EFO	3	EFO	Rare genetic bone disease	Eiken syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:79106	"" []	1161752	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Eiken syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79106	"" []	2045276	\N	\N	EFO	4	EFO	genetic disorder	Eiken syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79106	"" []	2045277	\N	\N	EFO	4	EFO	bone disease	Eiken syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:79106	"" []	2045278	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Eiken syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79106	"" []	4401231	\N	\N	EFO	6	EFO	disease	Eiken syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79106	"" []	3195371	\N	\N	EFO	5	EFO	skeletal system disease	Eiken syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79106	"" []	3195372	\N	\N	EFO	5	EFO	genetic disorder	Eiken syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79106	"" []	5183264	\N	\N	EFO	7	EFO	disposition	Eiken syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79106	"" []	4401230	\N	\N	EFO	6	EFO	disease	Eiken syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79106	"" []	5998601	\N	\N	EFO	8	EFO	material property	Eiken syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79106	"" []	6551673	\N	\N	EFO	9	EFO	experimental factor	Eiken syndrome
Orphanet:79107	\N	\N	"" []	Orphanet:79107	"" []	77865	\N	\N	EFO	0	EFO	Developmental malformations - deafness - dystonia	Developmental malformations - deafness - dystonia
Orphanet:330206	Orphanet:79107	\N	"" []	Orphanet:79107	"" []	222203	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Developmental malformations - deafness - dystonia
Orphanet:370106	Orphanet:79107	\N	"" []	Orphanet:79107	"" []	222204	\N	\N	EFO	1	EFO	Rare disorder with dystonia and other neurologic or systemic manifestation	Developmental malformations - deafness - dystonia
Orphanet:90642	Orphanet:79107	\N	"" []	Orphanet:79107	"" []	222205	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Developmental malformations - deafness - dystonia
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:79107	"" []	578271	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Developmental malformations - deafness - dystonia
Orphanet:391799	Orphanet:370106	\N	"" []	Orphanet:79107	"" []	578272	\N	\N	EFO	2	EFO	Rare genetic dystonia	Developmental malformations - deafness - dystonia
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:79107	"" []	578273	\N	\N	EFO	2	EFO	Rare genetic deafness	Developmental malformations - deafness - dystonia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:79107	"" []	1161753	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Developmental malformations - deafness - dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:79107	"" []	1161754	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Developmental malformations - deafness - dystonia
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79107	"" []	1161755	\N	\N	EFO	3	EFO	genetic disorder	Developmental malformations - deafness - dystonia
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:79107	"" []	1161756	\N	\N	EFO	3	EFO	auditory system disease	Developmental malformations - deafness - dystonia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79107	"" []	2045279	\N	\N	EFO	4	EFO	genetic disorder	Developmental malformations - deafness - dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:79107	"" []	2045280	\N	\N	EFO	4	EFO	movement disorder	Developmental malformations - deafness - dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:79107	"" []	2045281	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Developmental malformations - deafness - dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79107	"" []	4401233	\N	\N	EFO	6	EFO	disease	Developmental malformations - deafness - dystonia
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:79107	"" []	2045283	\N	\N	EFO	4	EFO	sensory system disease	Developmental malformations - deafness - dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:79107	"" []	3195374	\N	\N	EFO	5	EFO	nervous system disease	Developmental malformations - deafness - dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79107	"" []	3195375	\N	\N	EFO	5	EFO	genetic disorder	Developmental malformations - deafness - dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79107	"" []	5060244	\N	\N	EFO	7	EFO	disposition	Developmental malformations - deafness - dystonia
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:79107	"" []	3195377	\N	\N	EFO	5	EFO	nervous system disease	Developmental malformations - deafness - dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79107	"" []	4401232	\N	\N	EFO	6	EFO	disease	Developmental malformations - deafness - dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79107	"" []	5877684	\N	\N	EFO	8	EFO	material property	Developmental malformations - deafness - dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79107	"" []	6470914	\N	\N	EFO	9	EFO	experimental factor	Developmental malformations - deafness - dystonia
Orphanet:79113	\N	\N	"" []	Orphanet:79113	"" []	77866	\N	\N	EFO	0	EFO	Mandibulofacial dysostosis-microcephaly syndrome	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:102283	Orphanet:79113	\N	"" []	Orphanet:79113	"" []	222206	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:139039	Orphanet:79113	\N	"" []	Orphanet:79113	"" []	222207	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:183576	Orphanet:79113	\N	"" []	Orphanet:79113	"" []	222208	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:183763	Orphanet:79113	\N	"" []	Orphanet:79113	"" []	222209	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:364574	Orphanet:79113	\N	"" []	Orphanet:79113	"" []	222210	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:79113	"" []	578274	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:79113	"" []	578275	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:79113	"" []	578276	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79113	"" []	578277	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:79113	"" []	578278	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:79113	"" []	578279	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:79113	"" []	1161757	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:79113	"" []	1161758	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Mandibulofacial dysostosis-microcephaly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79113	"" []	5417658	\N	\N	EFO	7	EFO	genetic disorder	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79113	"" []	1161760	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:79113	"" []	1161761	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:79113	"" []	1161762	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:79113	"" []	1161763	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:79113	"" []	2045285	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Mandibulofacial dysostosis-microcephaly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79113	"" []	5801887	\N	\N	EFO	8	EFO	disease	Mandibulofacial dysostosis-microcephaly syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79113	"" []	2045287	\N	\N	EFO	4	EFO	genetic disorder	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:79113	"" []	2045288	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:79113	"" []	2045289	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:79113	"" []	3195378	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mandibulofacial dysostosis-microcephaly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79113	"" []	6378986	\N	\N	EFO	9	EFO	disposition	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:79113	"" []	3195380	\N	\N	EFO	5	EFO	Rare genetic bone disease	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:79113	"" []	3195381	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:79113	"" []	3195382	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mandibulofacial dysostosis-microcephaly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79113	"" []	6778817	\N	\N	EFO	10	EFO	material property	Mandibulofacial dysostosis-microcephaly syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79113	"" []	4401237	\N	\N	EFO	6	EFO	genetic disorder	Mandibulofacial dysostosis-microcephaly syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79113	"" []	4401238	\N	\N	EFO	6	EFO	bone disease	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:79113	"" []	4401239	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Mandibulofacial dysostosis-microcephaly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79113	"" []	7030009	\N	\N	EFO	11	EFO	experimental factor	Mandibulofacial dysostosis-microcephaly syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79113	"" []	5417657	\N	\N	EFO	7	EFO	skeletal system disease	Mandibulofacial dysostosis-microcephaly syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79113	"" []	6152572	\N	\N	EFO	8	EFO	disease	Mandibulofacial dysostosis-microcephaly syndrome
Orphanet:79118	\N	\N	"" []	Orphanet:79118	"" []	77867	\N	\N	EFO	0	EFO	Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys	Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
Orphanet:93587	Orphanet:79118	\N	"" []	Orphanet:79118	"" []	222211	\N	\N	EFO	1	EFO	Familial cystic renal disease	Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:79118	"" []	578280	\N	\N	EFO	2	EFO	kidney disease	Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:79118	"" []	578281	\N	\N	EFO	2	EFO	Rare genetic renal disease	Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79118	"" []	1161764	\N	\N	EFO	3	EFO	disease	Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79118	"" []	1161765	\N	\N	EFO	3	EFO	genetic disorder	Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79118	"" []	3195384	\N	\N	EFO	5	EFO	disposition	Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79118	"" []	2045291	\N	\N	EFO	4	EFO	disease	Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79118	"" []	4134325	\N	\N	EFO	6	EFO	material property	Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79118	"" []	5183267	\N	\N	EFO	7	EFO	experimental factor	Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
Orphanet:79124	\N	\N	"" []	Orphanet:79124	"" []	77868	\N	\N	EFO	0	EFO	Hepatic veno-occlusive disease - immunodeficiency	Hepatic veno-occlusive disease - immunodeficiency
Orphanet:156601	Orphanet:79124	\N	"" []	Orphanet:79124	"" []	222212	\N	\N	EFO	1	EFO	Rare genetic hepatic disease	Hepatic veno-occlusive disease - immunodeficiency
Orphanet:331217	Orphanet:79124	\N	"" []	Orphanet:79124	"" []	222213	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Hepatic veno-occlusive disease - immunodeficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79124	"" []	578282	\N	\N	EFO	2	EFO	digestive system disease	Hepatic veno-occlusive disease - immunodeficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79124	"" []	578283	\N	\N	EFO	2	EFO	genetic disorder	Hepatic veno-occlusive disease - immunodeficiency
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:79124	"" []	578284	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Hepatic veno-occlusive disease - immunodeficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79124	"" []	1161766	\N	\N	EFO	3	EFO	disease	Hepatic veno-occlusive disease - immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79124	"" []	4401242	\N	\N	EFO	6	EFO	disease	Hepatic veno-occlusive disease - immunodeficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:79124	"" []	1161768	\N	\N	EFO	3	EFO	Primary immunodeficiency	Hepatic veno-occlusive disease - immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79124	"" []	5028481	\N	\N	EFO	7	EFO	disposition	Hepatic veno-occlusive disease - immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:79124	"" []	2045293	\N	\N	EFO	4	EFO	Rare genetic immune disease	Hepatic veno-occlusive disease - immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79124	"" []	5817852	\N	\N	EFO	8	EFO	material property	Hepatic veno-occlusive disease - immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79124	"" []	3195386	\N	\N	EFO	5	EFO	genetic disorder	Hepatic veno-occlusive disease - immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:79124	"" []	3195387	\N	\N	EFO	5	EFO	immune system disease	Hepatic veno-occlusive disease - immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79124	"" []	6410332	\N	\N	EFO	9	EFO	experimental factor	Hepatic veno-occlusive disease - immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79124	"" []	4401243	\N	\N	EFO	6	EFO	disease	Hepatic veno-occlusive disease - immunodeficiency
Orphanet:79129	\N	\N	"" []	Orphanet:79129	"" []	77869	\N	\N	EFO	0	EFO	Trichodysplasia - amelogenesis imperfecta	Trichodysplasia - amelogenesis imperfecta
Orphanet:183580	Orphanet:79129	\N	"" []	Orphanet:79129	"" []	222214	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Trichodysplasia - amelogenesis imperfecta
Orphanet:79373	Orphanet:79129	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:79129	"" []	222215	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Trichodysplasia - amelogenesis imperfecta
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:79129	"" []	578285	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Trichodysplasia - amelogenesis imperfecta
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:79129	"" []	578286	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Trichodysplasia - amelogenesis imperfecta
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:79129	"" []	578287	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Trichodysplasia - amelogenesis imperfecta
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79129	"" []	2045295	\N	\N	EFO	4	EFO	genetic disorder	Trichodysplasia - amelogenesis imperfecta
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79129	"" []	1161770	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Trichodysplasia - amelogenesis imperfecta
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79129	"" []	1161771	\N	\N	EFO	3	EFO	Rare genetic skin disease	Trichodysplasia - amelogenesis imperfecta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79129	"" []	3000447	\N	\N	EFO	5	EFO	disease	Trichodysplasia - amelogenesis imperfecta
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79129	"" []	2045296	\N	\N	EFO	4	EFO	genetic disorder	Trichodysplasia - amelogenesis imperfecta
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79129	"" []	2045297	\N	\N	EFO	4	EFO	skin disease	Trichodysplasia - amelogenesis imperfecta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79129	"" []	4134326	\N	\N	EFO	6	EFO	disposition	Trichodysplasia - amelogenesis imperfecta
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79129	"" []	3195389	\N	\N	EFO	5	EFO	disease	Trichodysplasia - amelogenesis imperfecta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79129	"" []	5183268	\N	\N	EFO	7	EFO	material property	Trichodysplasia - amelogenesis imperfecta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79129	"" []	5998604	\N	\N	EFO	8	EFO	experimental factor	Trichodysplasia - amelogenesis imperfecta
Orphanet:79132	\N	\N	"" []	Orphanet:79132	"" []	77870	\N	\N	EFO	0	EFO	Sparse hair - short stature - skin anomalies	Sparse hair - short stature - skin anomalies
Orphanet:79373	Orphanet:79132	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:79132	"" []	222216	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Sparse hair - short stature - skin anomalies
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:79132	"" []	578288	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Sparse hair - short stature - skin anomalies
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:79132	"" []	578289	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Sparse hair - short stature - skin anomalies
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79132	"" []	1161772	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Sparse hair - short stature - skin anomalies
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79132	"" []	1161773	\N	\N	EFO	3	EFO	Rare genetic skin disease	Sparse hair - short stature - skin anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79132	"" []	2045298	\N	\N	EFO	4	EFO	genetic disorder	Sparse hair - short stature - skin anomalies
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79132	"" []	2045299	\N	\N	EFO	4	EFO	genetic disorder	Sparse hair - short stature - skin anomalies
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79132	"" []	2045300	\N	\N	EFO	4	EFO	skin disease	Sparse hair - short stature - skin anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79132	"" []	3195390	\N	\N	EFO	5	EFO	disease	Sparse hair - short stature - skin anomalies
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79132	"" []	3195391	\N	\N	EFO	5	EFO	disease	Sparse hair - short stature - skin anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79132	"" []	4401245	\N	\N	EFO	6	EFO	disposition	Sparse hair - short stature - skin anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79132	"" []	5417660	\N	\N	EFO	7	EFO	material property	Sparse hair - short stature - skin anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79132	"" []	6152573	\N	\N	EFO	8	EFO	experimental factor	Sparse hair - short stature - skin anomalies
Orphanet:79133	\N	\N	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	77871	\N	\N	EFO	0	EFO	Focal facial dermal dysplasia type I	Focal facial dermal dysplasia type I
Orphanet:398166	Orphanet:79133	\N	"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	222217	\N	\N	EFO	1	EFO	Focal facial dermal dysplasia	Focal facial dermal dysplasia type I
Orphanet:79373	Orphanet:398166	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	578290	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Focal facial dermal dysplasia type I
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	1161774	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Focal facial dermal dysplasia type I
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	1161775	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Focal facial dermal dysplasia type I
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	2045301	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Focal facial dermal dysplasia type I
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	2045302	\N	\N	EFO	4	EFO	Rare genetic skin disease	Focal facial dermal dysplasia type I
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	3195392	\N	\N	EFO	5	EFO	genetic disorder	Focal facial dermal dysplasia type I
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	3195393	\N	\N	EFO	5	EFO	genetic disorder	Focal facial dermal dysplasia type I
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	3195394	\N	\N	EFO	5	EFO	skin disease	Focal facial dermal dysplasia type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	4401246	\N	\N	EFO	6	EFO	disease	Focal facial dermal dysplasia type I
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	4401247	\N	\N	EFO	6	EFO	disease	Focal facial dermal dysplasia type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	5417661	\N	\N	EFO	7	EFO	disposition	Focal facial dermal dysplasia type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	6152574	\N	\N	EFO	8	EFO	material property	Focal facial dermal dysplasia type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79133	"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." []	6634112	\N	\N	EFO	9	EFO	experimental factor	Focal facial dermal dysplasia type I
Orphanet:79134	\N	\N	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	77872	\N	\N	EFO	0	EFO	DEND syndrome	DEND syndrome
Orphanet:166463	Orphanet:79134	\N	"" []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	222218	\N	\N	EFO	1	EFO	Epilepsy syndrome	DEND syndrome
Orphanet:224	Orphanet:79134	\N	"" []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	222219	\N	\N	EFO	1	EFO	Neonatal diabetes mellitus	DEND syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	578291	\N	\N	EFO	2	EFO	Rare genetic epilepsy	DEND syndrome
Orphanet:183625	Orphanet:224	\N	"" []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	578292	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	DEND syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	1161776	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	DEND syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	1161777	\N	\N	EFO	3	EFO	diabetes mellitus	DEND syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	1161778	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	DEND syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	2045303	\N	\N	EFO	4	EFO	genetic disorder	DEND syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	2045304	\N	\N	EFO	4	EFO	metabolic disease	DEND syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	2045305	\N	\N	EFO	4	EFO	genetic disorder	DEND syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	2045306	\N	\N	EFO	4	EFO	endocrine system disease	DEND syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	3195395	\N	\N	EFO	5	EFO	disease	DEND syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	3195396	\N	\N	EFO	5	EFO	disease	DEND syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	3195397	\N	\N	EFO	5	EFO	disease	DEND syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	4401248	\N	\N	EFO	6	EFO	disposition	DEND syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	5417662	\N	\N	EFO	7	EFO	material property	DEND syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79134	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	6152575	\N	\N	EFO	8	EFO	experimental factor	DEND syndrome
Orphanet:79135	\N	\N	"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." []	Orphanet:79135	"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." []	77873	\N	\N	EFO	0	EFO	Episodic ataxia type 3	Episodic ataxia type 3
Orphanet:211062	Orphanet:79135	\N	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	Orphanet:79135	"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." []	222220	\N	\N	EFO	1	EFO	Hereditary episodic ataxia	Episodic ataxia type 3
Orphanet:183518	Orphanet:211062	\N	"" []	Orphanet:79135	"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." []	578293	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Episodic ataxia type 3
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:79135	"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." []	1161779	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Episodic ataxia type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79135	"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." []	2045307	\N	\N	EFO	4	EFO	genetic disorder	Episodic ataxia type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79135	"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." []	3195398	\N	\N	EFO	5	EFO	disease	Episodic ataxia type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79135	"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." []	4401249	\N	\N	EFO	6	EFO	disposition	Episodic ataxia type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79135	"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." []	5417663	\N	\N	EFO	7	EFO	material property	Episodic ataxia type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79135	"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." []	6152576	\N	\N	EFO	8	EFO	experimental factor	Episodic ataxia type 3
Orphanet:79136	\N	\N	"Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." []	Orphanet:79136	"Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." []	77874	\N	\N	EFO	0	EFO	Episodic ataxia type 4	Episodic ataxia type 4
Orphanet:211062	Orphanet:79136	\N	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	Orphanet:79136	"Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." []	222221	\N	\N	EFO	1	EFO	Hereditary episodic ataxia	Episodic ataxia type 4
Orphanet:183518	Orphanet:211062	\N	"" []	Orphanet:79136	"Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." []	578294	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Episodic ataxia type 4
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:79136	"Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." []	1161780	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Episodic ataxia type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79136	"Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." []	2045308	\N	\N	EFO	4	EFO	genetic disorder	Episodic ataxia type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79136	"Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." []	3195399	\N	\N	EFO	5	EFO	disease	Episodic ataxia type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79136	"Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." []	4401250	\N	\N	EFO	6	EFO	disposition	Episodic ataxia type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79136	"Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." []	5417664	\N	\N	EFO	7	EFO	material property	Episodic ataxia type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79136	"Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." []	6152577	\N	\N	EFO	8	EFO	experimental factor	Episodic ataxia type 4
Orphanet:79137	\N	\N	"" []	Orphanet:79137	"" []	77875	\N	\N	EFO	0	EFO	Generalized epilepsy - paroxysmal dyskinesia	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:309	Orphanet:79137	\N	"" []	Orphanet:79137	"" []	222222	\N	\N	EFO	1	EFO	Familial partial epilepsy	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:79137	"" []	578295	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:79137	"" []	578296	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:79137	"" []	578297	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:79137	"" []	578298	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:79137	"" []	1161781	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:79137	"" []	1161782	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:79137	"" []	1161783	\N	\N	EFO	3	EFO	Epilepsy syndrome	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:79137	"" []	1161784	\N	\N	EFO	3	EFO	Epilepsy syndrome	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:79137	"" []	3195401	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:79137	"" []	2045310	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:79137	"" []	2045311	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Generalized epilepsy - paroxysmal dyskinesia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79137	"" []	4134327	\N	\N	EFO	6	EFO	genetic disorder	Generalized epilepsy - paroxysmal dyskinesia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79137	"" []	5183269	\N	\N	EFO	7	EFO	disease	Generalized epilepsy - paroxysmal dyskinesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79137	"" []	5998605	\N	\N	EFO	8	EFO	disposition	Generalized epilepsy - paroxysmal dyskinesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79137	"" []	6551674	\N	\N	EFO	9	EFO	material property	Generalized epilepsy - paroxysmal dyskinesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79137	"" []	6889519	\N	\N	EFO	10	EFO	experimental factor	Generalized epilepsy - paroxysmal dyskinesia
Orphanet:79141	\N	\N	"" []	Orphanet:79141	"" []	77876	\N	\N	EFO	0	EFO	Hereditary painful callosities	Hereditary painful callosities
Orphanet:307846	Orphanet:79141	\N	"" []	Orphanet:79141	"" []	222223	\N	\N	EFO	1	EFO	Isolated focal palmoplantar keratoderma	Hereditary painful callosities
Orphanet:307837	Orphanet:307846	\N	"" []	Orphanet:79141	"" []	578299	\N	\N	EFO	2	EFO	Focal palmoplantar keratoderma	Hereditary painful callosities
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:79141	"" []	1161785	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Hereditary painful callosities
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:79141	"" []	2045312	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Hereditary painful callosities
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79141	"" []	3195402	\N	\N	EFO	5	EFO	Rare genetic skin disease	Hereditary painful callosities
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79141	"" []	4401252	\N	\N	EFO	6	EFO	genetic disorder	Hereditary painful callosities
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79141	"" []	4401253	\N	\N	EFO	6	EFO	skin disease	Hereditary painful callosities
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79141	"" []	5417666	\N	\N	EFO	7	EFO	disease	Hereditary painful callosities
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79141	"" []	5417667	\N	\N	EFO	7	EFO	disease	Hereditary painful callosities
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79141	"" []	6152579	\N	\N	EFO	8	EFO	disposition	Hereditary painful callosities
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79141	"" []	6634114	\N	\N	EFO	9	EFO	material property	Hereditary painful callosities
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79141	"" []	6926245	\N	\N	EFO	10	EFO	experimental factor	Hereditary painful callosities
Orphanet:79142	\N	\N	"" []	Orphanet:79142	"" []	77877	\N	\N	EFO	0	EFO	Familial Dupuytren contracture	Familial Dupuytren contracture
Orphanet:79360	Orphanet:79142	\N	"" []	Orphanet:79142	"" []	222224	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Familial Dupuytren contracture
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:79142	"" []	578300	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Familial Dupuytren contracture
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79142	"" []	1161786	\N	\N	EFO	3	EFO	Rare genetic skin disease	Familial Dupuytren contracture
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79142	"" []	2045313	\N	\N	EFO	4	EFO	genetic disorder	Familial Dupuytren contracture
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79142	"" []	2045314	\N	\N	EFO	4	EFO	skin disease	Familial Dupuytren contracture
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79142	"" []	3195403	\N	\N	EFO	5	EFO	disease	Familial Dupuytren contracture
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79142	"" []	3195404	\N	\N	EFO	5	EFO	disease	Familial Dupuytren contracture
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79142	"" []	4401254	\N	\N	EFO	6	EFO	disposition	Familial Dupuytren contracture
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79142	"" []	5417668	\N	\N	EFO	7	EFO	material property	Familial Dupuytren contracture
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79142	"" []	6152580	\N	\N	EFO	8	EFO	experimental factor	Familial Dupuytren contracture
Orphanet:79143	\N	\N	"" []	Orphanet:79143	"" []	77878	\N	\N	EFO	0	EFO	Congenital anonychia	Congenital anonychia
Orphanet:139027	Orphanet:79143	\N	"" []	Orphanet:79143	"" []	222225	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Congenital anonychia
Orphanet:79369	Orphanet:79143	\N	"" []	Orphanet:79143	"" []	222226	\N	\N	EFO	1	EFO	Isolated nail anomaly	Congenital anonychia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79143	"" []	578301	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Congenital anonychia
Orphanet:183454	Orphanet:79369	\N	"" []	Orphanet:79143	"" []	578302	\N	\N	EFO	2	EFO	Genetic nail anomaly	Congenital anonychia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79143	"" []	1161787	\N	\N	EFO	3	EFO	genetic disorder	Congenital anonychia
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:79143	"" []	1161788	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Congenital anonychia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79143	"" []	4401256	\N	\N	EFO	6	EFO	disease	Congenital anonychia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79143	"" []	2045316	\N	\N	EFO	4	EFO	Rare genetic skin disease	Congenital anonychia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79143	"" []	5060245	\N	\N	EFO	7	EFO	disposition	Congenital anonychia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79143	"" []	3195406	\N	\N	EFO	5	EFO	genetic disorder	Congenital anonychia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79143	"" []	3195407	\N	\N	EFO	5	EFO	skin disease	Congenital anonychia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79143	"" []	5877685	\N	\N	EFO	8	EFO	material property	Congenital anonychia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79143	"" []	4401257	\N	\N	EFO	6	EFO	disease	Congenital anonychia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79143	"" []	6470915	\N	\N	EFO	9	EFO	experimental factor	Congenital anonychia
Orphanet:79144	\N	\N	"" []	Orphanet:79144	"" []	77879	\N	\N	EFO	0	EFO	Congenital onychodysplasia	Congenital onychodysplasia
Orphanet:79369	Orphanet:79144	\N	"" []	Orphanet:79144	"" []	222227	\N	\N	EFO	1	EFO	Isolated nail anomaly	Congenital onychodysplasia
Orphanet:79370	Orphanet:79144	\N	"" []	Orphanet:79144	"" []	222228	\N	\N	EFO	1	EFO	Syndromic nail anomaly	Congenital onychodysplasia
Orphanet:183454	Orphanet:79369	\N	"" []	Orphanet:79144	"" []	578303	\N	\N	EFO	2	EFO	Genetic nail anomaly	Congenital onychodysplasia
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:79144	"" []	578304	\N	\N	EFO	2	EFO	Genetic nail anomaly	Congenital onychodysplasia
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:79144	"" []	1161789	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Congenital onychodysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79144	"" []	2045317	\N	\N	EFO	4	EFO	Rare genetic skin disease	Congenital onychodysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79144	"" []	3195408	\N	\N	EFO	5	EFO	genetic disorder	Congenital onychodysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79144	"" []	3195409	\N	\N	EFO	5	EFO	skin disease	Congenital onychodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79144	"" []	4401258	\N	\N	EFO	6	EFO	disease	Congenital onychodysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79144	"" []	4401259	\N	\N	EFO	6	EFO	disease	Congenital onychodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79144	"" []	5417670	\N	\N	EFO	7	EFO	disposition	Congenital onychodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79144	"" []	6152581	\N	\N	EFO	8	EFO	material property	Congenital onychodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79144	"" []	6634115	\N	\N	EFO	9	EFO	experimental factor	Congenital onychodysplasia
Orphanet:79145	\N	\N	"" []	Orphanet:79145	"" []	77880	\N	\N	EFO	0	EFO	Dowling-Degos disease	Dowling-Degos disease
Orphanet:183466	Orphanet:79145	\N	"" []	Orphanet:79145	"" []	222229	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Dowling-Degos disease
Orphanet:309505	Orphanet:79145	\N	"" []	Orphanet:79145	"" []	222230	\N	\N	EFO	1	EFO	Disorder of fucoglycosan synthesis	Dowling-Degos disease
Orphanet:371200	Orphanet:79145	\N	"" []	Orphanet:79145	"" []	222231	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	Dowling-Degos disease
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:79145	"" []	578305	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Dowling-Degos disease
Orphanet:309447	Orphanet:309505	\N	"" []	Orphanet:79145	"" []	578306	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Dowling-Degos disease
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:79145	"" []	578307	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Dowling-Degos disease
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79145	"" []	1161790	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dowling-Degos disease
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:79145	"" []	1161791	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Dowling-Degos disease
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79145	"" []	1161792	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dowling-Degos disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79145	"" []	2045318	\N	\N	EFO	4	EFO	genetic disorder	Dowling-Degos disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79145	"" []	2045319	\N	\N	EFO	4	EFO	skin disease	Dowling-Degos disease
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79145	"" []	2045320	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Dowling-Degos disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79145	"" []	4401261	\N	\N	EFO	6	EFO	disease	Dowling-Degos disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79145	"" []	3195411	\N	\N	EFO	5	EFO	disease	Dowling-Degos disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79145	"" []	3195412	\N	\N	EFO	5	EFO	genetic disorder	Dowling-Degos disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79145	"" []	3195413	\N	\N	EFO	5	EFO	metabolic disease	Dowling-Degos disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79145	"" []	5183270	\N	\N	EFO	7	EFO	disposition	Dowling-Degos disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79145	"" []	4401262	\N	\N	EFO	6	EFO	disease	Dowling-Degos disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79145	"" []	5998606	\N	\N	EFO	8	EFO	material property	Dowling-Degos disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79145	"" []	6551675	\N	\N	EFO	9	EFO	experimental factor	Dowling-Degos disease
Orphanet:79146	\N	\N	"" []	Orphanet:79146	"" []	77881	\N	\N	EFO	0	EFO	Familial progressive hyperpigmentation	Familial progressive hyperpigmentation
Orphanet:183466	Orphanet:79146	\N	"" []	Orphanet:79146	"" []	222232	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Familial progressive hyperpigmentation
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:79146	"" []	578308	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Familial progressive hyperpigmentation
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79146	"" []	1161793	\N	\N	EFO	3	EFO	Rare genetic skin disease	Familial progressive hyperpigmentation
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79146	"" []	2045321	\N	\N	EFO	4	EFO	genetic disorder	Familial progressive hyperpigmentation
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79146	"" []	2045322	\N	\N	EFO	4	EFO	skin disease	Familial progressive hyperpigmentation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79146	"" []	3195414	\N	\N	EFO	5	EFO	disease	Familial progressive hyperpigmentation
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79146	"" []	3195415	\N	\N	EFO	5	EFO	disease	Familial progressive hyperpigmentation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79146	"" []	4401263	\N	\N	EFO	6	EFO	disposition	Familial progressive hyperpigmentation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79146	"" []	5417672	\N	\N	EFO	7	EFO	material property	Familial progressive hyperpigmentation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79146	"" []	6152583	\N	\N	EFO	8	EFO	experimental factor	Familial progressive hyperpigmentation
Orphanet:79147	\N	\N	"" []	Orphanet:79147	"" []	77882	\N	\N	EFO	0	EFO	Familial reactive perforating collagenosis	Familial reactive perforating collagenosis
Orphanet:228215	Orphanet:79147	\N	"" []	Orphanet:79147	"" []	222233	\N	\N	EFO	1	EFO	Genetic dermis elastic tissue disorder	Familial reactive perforating collagenosis
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:79147	"" []	578309	\N	\N	EFO	2	EFO	Genetic dermis disorder	Familial reactive perforating collagenosis
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:79147	"" []	1161794	\N	\N	EFO	3	EFO	Rare genetic skin disease	Familial reactive perforating collagenosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79147	"" []	2045323	\N	\N	EFO	4	EFO	genetic disorder	Familial reactive perforating collagenosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79147	"" []	2045324	\N	\N	EFO	4	EFO	skin disease	Familial reactive perforating collagenosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79147	"" []	3195416	\N	\N	EFO	5	EFO	disease	Familial reactive perforating collagenosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79147	"" []	3195417	\N	\N	EFO	5	EFO	disease	Familial reactive perforating collagenosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79147	"" []	4401264	\N	\N	EFO	6	EFO	disposition	Familial reactive perforating collagenosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79147	"" []	5417673	\N	\N	EFO	7	EFO	material property	Familial reactive perforating collagenosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79147	"" []	6152584	\N	\N	EFO	8	EFO	experimental factor	Familial reactive perforating collagenosis
Orphanet:79149	\N	\N	"" []	Orphanet:79149	"" []	77883	\N	\N	EFO	0	EFO	Dermochondrocorneal dystrophy	Dermochondrocorneal dystrophy
Orphanet:183472	Orphanet:79149	\N	"" []	Orphanet:79149	"" []	222234	\N	\N	EFO	1	EFO	Genetic dermis disorder	Dermochondrocorneal dystrophy
Orphanet:98628	Orphanet:79149	\N	"" []	Orphanet:79149	"" []	222235	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	Dermochondrocorneal dystrophy
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:79149	"" []	578310	\N	\N	EFO	2	EFO	Rare genetic skin disease	Dermochondrocorneal dystrophy
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:79149	"" []	578311	\N	\N	EFO	2	EFO	Corneal dystrophy	Dermochondrocorneal dystrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79149	"" []	1161795	\N	\N	EFO	3	EFO	genetic disorder	Dermochondrocorneal dystrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79149	"" []	1161796	\N	\N	EFO	3	EFO	skin disease	Dermochondrocorneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:79149	"" []	1161797	\N	\N	EFO	3	EFO	Rare genetic eye disease	Dermochondrocorneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79149	"" []	3195419	\N	\N	EFO	5	EFO	disease	Dermochondrocorneal dystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79149	"" []	2045326	\N	\N	EFO	4	EFO	disease	Dermochondrocorneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79149	"" []	2045327	\N	\N	EFO	4	EFO	genetic disorder	Dermochondrocorneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79149	"" []	2045328	\N	\N	EFO	4	EFO	eye disease	Dermochondrocorneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79149	"" []	4134328	\N	\N	EFO	6	EFO	disposition	Dermochondrocorneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79149	"" []	3195420	\N	\N	EFO	5	EFO	disease	Dermochondrocorneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79149	"" []	5183271	\N	\N	EFO	7	EFO	material property	Dermochondrocorneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79149	"" []	5998607	\N	\N	EFO	8	EFO	experimental factor	Dermochondrocorneal dystrophy
Orphanet:79150	\N	\N	"" []	Orphanet:79150	"" []	77884	\N	\N	EFO	0	EFO	Linear and whorled nevoid hypermelanosis	Linear and whorled nevoid hypermelanosis
Orphanet:183466	Orphanet:79150	\N	"" []	Orphanet:79150	"" []	222236	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Linear and whorled nevoid hypermelanosis
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:79150	"" []	578312	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Linear and whorled nevoid hypermelanosis
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79150	"" []	1161798	\N	\N	EFO	3	EFO	Rare genetic skin disease	Linear and whorled nevoid hypermelanosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79150	"" []	2045329	\N	\N	EFO	4	EFO	genetic disorder	Linear and whorled nevoid hypermelanosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79150	"" []	2045330	\N	\N	EFO	4	EFO	skin disease	Linear and whorled nevoid hypermelanosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79150	"" []	3195421	\N	\N	EFO	5	EFO	disease	Linear and whorled nevoid hypermelanosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79150	"" []	3195422	\N	\N	EFO	5	EFO	disease	Linear and whorled nevoid hypermelanosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79150	"" []	4401266	\N	\N	EFO	6	EFO	disposition	Linear and whorled nevoid hypermelanosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79150	"" []	5417675	\N	\N	EFO	7	EFO	material property	Linear and whorled nevoid hypermelanosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79150	"" []	6152585	\N	\N	EFO	8	EFO	experimental factor	Linear and whorled nevoid hypermelanosis
Orphanet:79151	\N	\N	"" []	Orphanet:79151	"" []	77885	\N	\N	EFO	0	EFO	Acrokeratosis verruciformis of Hopf	Acrokeratosis verruciformis of Hopf
Orphanet:183441	Orphanet:79151	\N	"" []	Orphanet:79151	"" []	222237	\N	\N	EFO	1	EFO	Genetic acrokeratoderma	Acrokeratosis verruciformis of Hopf
Orphanet:183426	Orphanet:183441	\N	"" []	Orphanet:79151	"" []	578313	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Acrokeratosis verruciformis of Hopf
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79151	"" []	1161799	\N	\N	EFO	3	EFO	Rare genetic skin disease	Acrokeratosis verruciformis of Hopf
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79151	"" []	2045331	\N	\N	EFO	4	EFO	genetic disorder	Acrokeratosis verruciformis of Hopf
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79151	"" []	2045332	\N	\N	EFO	4	EFO	skin disease	Acrokeratosis verruciformis of Hopf
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79151	"" []	3195423	\N	\N	EFO	5	EFO	disease	Acrokeratosis verruciformis of Hopf
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79151	"" []	3195424	\N	\N	EFO	5	EFO	disease	Acrokeratosis verruciformis of Hopf
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79151	"" []	4401267	\N	\N	EFO	6	EFO	disposition	Acrokeratosis verruciformis of Hopf
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79151	"" []	5417676	\N	\N	EFO	7	EFO	material property	Acrokeratosis verruciformis of Hopf
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79151	"" []	6152586	\N	\N	EFO	8	EFO	experimental factor	Acrokeratosis verruciformis of Hopf
Orphanet:79152	\N	\N	"" []	Orphanet:79152	"" []	77886	\N	\N	EFO	0	EFO	Disseminated superficial actinic porokeratosis	Disseminated superficial actinic porokeratosis
Orphanet:183444	Orphanet:79152	\N	"" []	Orphanet:79152	"" []	222238	\N	\N	EFO	1	EFO	Genetic porokeratosis	Disseminated superficial actinic porokeratosis
Orphanet:183426	Orphanet:183444	\N	"" []	Orphanet:79152	"" []	578314	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Disseminated superficial actinic porokeratosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79152	"" []	1161800	\N	\N	EFO	3	EFO	Rare genetic skin disease	Disseminated superficial actinic porokeratosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79152	"" []	2045333	\N	\N	EFO	4	EFO	genetic disorder	Disseminated superficial actinic porokeratosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79152	"" []	2045334	\N	\N	EFO	4	EFO	skin disease	Disseminated superficial actinic porokeratosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79152	"" []	3195425	\N	\N	EFO	5	EFO	disease	Disseminated superficial actinic porokeratosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79152	"" []	3195426	\N	\N	EFO	5	EFO	disease	Disseminated superficial actinic porokeratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79152	"" []	4401268	\N	\N	EFO	6	EFO	disposition	Disseminated superficial actinic porokeratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79152	"" []	5417677	\N	\N	EFO	7	EFO	material property	Disseminated superficial actinic porokeratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79152	"" []	6152587	\N	\N	EFO	8	EFO	experimental factor	Disseminated superficial actinic porokeratosis
Orphanet:79153	\N	\N	"" []	Orphanet:79153	"" []	77887	\N	\N	EFO	0	EFO	Autosomal dominant nail dysplasia	Autosomal dominant nail dysplasia
Orphanet:79369	Orphanet:79153	\N	"" []	Orphanet:79153	"" []	222239	\N	\N	EFO	1	EFO	Isolated nail anomaly	Autosomal dominant nail dysplasia
Orphanet:183454	Orphanet:79369	\N	"" []	Orphanet:79153	"" []	578315	\N	\N	EFO	2	EFO	Genetic nail anomaly	Autosomal dominant nail dysplasia
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:79153	"" []	1161801	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Autosomal dominant nail dysplasia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79153	"" []	2045335	\N	\N	EFO	4	EFO	Rare genetic skin disease	Autosomal dominant nail dysplasia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79153	"" []	3195427	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant nail dysplasia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79153	"" []	3195428	\N	\N	EFO	5	EFO	skin disease	Autosomal dominant nail dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79153	"" []	4401269	\N	\N	EFO	6	EFO	disease	Autosomal dominant nail dysplasia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79153	"" []	4401270	\N	\N	EFO	6	EFO	disease	Autosomal dominant nail dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79153	"" []	5417678	\N	\N	EFO	7	EFO	disposition	Autosomal dominant nail dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79153	"" []	6152588	\N	\N	EFO	8	EFO	material property	Autosomal dominant nail dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79153	"" []	6634116	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant nail dysplasia
Orphanet:79154	\N	\N	"" []	Orphanet:79154	"" []	77888	\N	\N	EFO	0	EFO	2-aminoadipic 2-oxoadipic aciduria	2-aminoadipic 2-oxoadipic aciduria
Orphanet:289832	Orphanet:79154	\N	"" []	Orphanet:79154	"" []	222240	\N	\N	EFO	1	EFO	Disorder of lysine and hydroxylysine metabolism	2-aminoadipic 2-oxoadipic aciduria
Orphanet:79062	Orphanet:289832	\N	"" []	Orphanet:79154	"" []	578316	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	2-aminoadipic 2-oxoadipic aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79154	"" []	1161802	\N	\N	EFO	3	EFO	Inborn errors of metabolism	2-aminoadipic 2-oxoadipic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79154	"" []	2045336	\N	\N	EFO	4	EFO	genetic disorder	2-aminoadipic 2-oxoadipic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79154	"" []	2045337	\N	\N	EFO	4	EFO	metabolic disease	2-aminoadipic 2-oxoadipic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79154	"" []	3195429	\N	\N	EFO	5	EFO	disease	2-aminoadipic 2-oxoadipic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79154	"" []	3195430	\N	\N	EFO	5	EFO	disease	2-aminoadipic 2-oxoadipic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79154	"" []	4401271	\N	\N	EFO	6	EFO	disposition	2-aminoadipic 2-oxoadipic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79154	"" []	5417679	\N	\N	EFO	7	EFO	material property	2-aminoadipic 2-oxoadipic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79154	"" []	6152589	\N	\N	EFO	8	EFO	experimental factor	2-aminoadipic 2-oxoadipic aciduria
Orphanet:79155	\N	\N	"" []	Orphanet:79155	"" []	77889	\N	\N	EFO	0	EFO	Encephalopathy due to hydroxykynureninuria	Encephalopathy due to hydroxykynureninuria
Orphanet:289829	Orphanet:79155	\N	"" []	Orphanet:79155	"" []	222241	\N	\N	EFO	1	EFO	Disorder of tryptophan metabolism	Encephalopathy due to hydroxykynureninuria
Orphanet:68385	Orphanet:79155	\N	"" []	Orphanet:79155	"" []	222242	\N	\N	EFO	1	EFO	Neurometabolic disease	Encephalopathy due to hydroxykynureninuria
Orphanet:79062	Orphanet:289829	\N	"" []	Orphanet:79155	"" []	578317	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Encephalopathy due to hydroxykynureninuria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79155	"" []	578318	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Encephalopathy due to hydroxykynureninuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79155	"" []	1161803	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Encephalopathy due to hydroxykynureninuria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79155	"" []	1161804	\N	\N	EFO	3	EFO	genetic disorder	Encephalopathy due to hydroxykynureninuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79155	"" []	2045338	\N	\N	EFO	4	EFO	genetic disorder	Encephalopathy due to hydroxykynureninuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79155	"" []	2045339	\N	\N	EFO	4	EFO	metabolic disease	Encephalopathy due to hydroxykynureninuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79155	"" []	3195431	\N	\N	EFO	5	EFO	disease	Encephalopathy due to hydroxykynureninuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79155	"" []	3195432	\N	\N	EFO	5	EFO	disease	Encephalopathy due to hydroxykynureninuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79155	"" []	4134329	\N	\N	EFO	6	EFO	disposition	Encephalopathy due to hydroxykynureninuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79155	"" []	5183272	\N	\N	EFO	7	EFO	material property	Encephalopathy due to hydroxykynureninuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79155	"" []	5998608	\N	\N	EFO	8	EFO	experimental factor	Encephalopathy due to hydroxykynureninuria
Orphanet:79156	\N	\N	"" []	Orphanet:79156	"" []	77890	\N	\N	EFO	0	EFO	Seizures - intellectual disability due to hydroxylysinuria	Seizures - intellectual disability due to hydroxylysinuria
Orphanet:289832	Orphanet:79156	\N	"" []	Orphanet:79156	"" []	222243	\N	\N	EFO	1	EFO	Disorder of lysine and hydroxylysine metabolism	Seizures - intellectual disability due to hydroxylysinuria
Orphanet:79062	Orphanet:289832	\N	"" []	Orphanet:79156	"" []	578319	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Seizures - intellectual disability due to hydroxylysinuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79156	"" []	1161805	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Seizures - intellectual disability due to hydroxylysinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79156	"" []	2045341	\N	\N	EFO	4	EFO	genetic disorder	Seizures - intellectual disability due to hydroxylysinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79156	"" []	2045342	\N	\N	EFO	4	EFO	metabolic disease	Seizures - intellectual disability due to hydroxylysinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79156	"" []	3195434	\N	\N	EFO	5	EFO	disease	Seizures - intellectual disability due to hydroxylysinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79156	"" []	3195435	\N	\N	EFO	5	EFO	disease	Seizures - intellectual disability due to hydroxylysinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79156	"" []	4401273	\N	\N	EFO	6	EFO	disposition	Seizures - intellectual disability due to hydroxylysinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79156	"" []	5417681	\N	\N	EFO	7	EFO	material property	Seizures - intellectual disability due to hydroxylysinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79156	"" []	6152590	\N	\N	EFO	8	EFO	experimental factor	Seizures - intellectual disability due to hydroxylysinuria
Orphanet:79157	\N	\N	"" []	Orphanet:79157	"" []	77891	\N	\N	EFO	0	EFO	2-methylbutyryl-CoA dehydrogenase deficiency	2-methylbutyryl-CoA dehydrogenase deficiency
Orphanet:68385	Orphanet:79157	\N	"" []	Orphanet:79157	"" []	222244	\N	\N	EFO	1	EFO	Neurometabolic disease	2-methylbutyryl-CoA dehydrogenase deficiency
Orphanet:79163	Orphanet:79157	\N	"" []	Orphanet:79157	"" []	222245	\N	\N	EFO	1	EFO	Classic organic aciduria	2-methylbutyryl-CoA dehydrogenase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79157	"" []	578320	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	2-methylbutyryl-CoA dehydrogenase deficiency
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:79157	"" []	578321	\N	\N	EFO	2	EFO	Organic aciduria	2-methylbutyryl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79157	"" []	1161806	\N	\N	EFO	3	EFO	genetic disorder	2-methylbutyryl-CoA dehydrogenase deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79157	"" []	1161807	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	2-methylbutyryl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79157	"" []	4401275	\N	\N	EFO	6	EFO	disease	2-methylbutyryl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79157	"" []	2045344	\N	\N	EFO	4	EFO	Inborn errors of metabolism	2-methylbutyryl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79157	"" []	5060246	\N	\N	EFO	7	EFO	disposition	2-methylbutyryl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79157	"" []	3195437	\N	\N	EFO	5	EFO	genetic disorder	2-methylbutyryl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79157	"" []	3195438	\N	\N	EFO	5	EFO	metabolic disease	2-methylbutyryl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79157	"" []	5877686	\N	\N	EFO	8	EFO	material property	2-methylbutyryl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79157	"" []	4401276	\N	\N	EFO	6	EFO	disease	2-methylbutyryl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79157	"" []	6470916	\N	\N	EFO	9	EFO	experimental factor	2-methylbutyryl-CoA dehydrogenase deficiency
Orphanet:79158	\N	\N	"" []	Orphanet:79158	"" []	77892	\N	\N	EFO	0	EFO	Cerebral organic aciduria	Cerebral organic aciduria
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:79158	"" []	222246	\N	\N	EFO	1	EFO	Organic aciduria	Cerebral organic aciduria
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79158	"" []	578322	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Cerebral organic aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79158	"" []	1161808	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Cerebral organic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79158	"" []	2045345	\N	\N	EFO	4	EFO	genetic disorder	Cerebral organic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79158	"" []	2045346	\N	\N	EFO	4	EFO	metabolic disease	Cerebral organic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79158	"" []	3195439	\N	\N	EFO	5	EFO	disease	Cerebral organic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79158	"" []	3195440	\N	\N	EFO	5	EFO	disease	Cerebral organic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79158	"" []	4401277	\N	\N	EFO	6	EFO	disposition	Cerebral organic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79158	"" []	5417683	\N	\N	EFO	7	EFO	material property	Cerebral organic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79158	"" []	6152591	\N	\N	EFO	8	EFO	experimental factor	Cerebral organic aciduria
Orphanet:79159	\N	\N	"" []	Orphanet:79159	"" []	77893	\N	\N	EFO	0	EFO	Isobutyryl-CoA dehydrogenase deficiency	Isobutyryl-CoA dehydrogenase deficiency
Orphanet:217619	Orphanet:79159	\N	"" []	Orphanet:79159	"" []	222247	\N	\N	EFO	1	EFO	Syndrome associated with dilated cardiomyopathy	Isobutyryl-CoA dehydrogenase deficiency
Orphanet:79163	Orphanet:79159	\N	"" []	Orphanet:79159	"" []	222248	\N	\N	EFO	1	EFO	Classic organic aciduria	Isobutyryl-CoA dehydrogenase deficiency
Orphanet:217607	Orphanet:217619	\N	"" []	Orphanet:79159	"" []	578323	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Isobutyryl-CoA dehydrogenase deficiency
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:79159	"" []	578324	\N	\N	EFO	2	EFO	Organic aciduria	Isobutyryl-CoA dehydrogenase deficiency
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:79159	"" []	1161809	\N	\N	EFO	3	EFO	cardiomyopathy	Isobutyryl-CoA dehydrogenase deficiency
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:79159	"" []	1161810	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Isobutyryl-CoA dehydrogenase deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79159	"" []	1161811	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Isobutyryl-CoA dehydrogenase deficiency
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:79159	"" []	2045347	\N	\N	EFO	4	EFO	heart disease	Isobutyryl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79159	"" []	2045348	\N	\N	EFO	4	EFO	genetic disorder	Isobutyryl-CoA dehydrogenase deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:79159	"" []	2045349	\N	\N	EFO	4	EFO	heart disease	Isobutyryl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79159	"" []	2045350	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Isobutyryl-CoA dehydrogenase deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:79159	"" []	3195441	\N	\N	EFO	5	EFO	cardiovascular disease	Isobutyryl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79159	"" []	4401280	\N	\N	EFO	6	EFO	disease	Isobutyryl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79159	"" []	3195443	\N	\N	EFO	5	EFO	genetic disorder	Isobutyryl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79159	"" []	3195444	\N	\N	EFO	5	EFO	metabolic disease	Isobutyryl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79159	"" []	4401278	\N	\N	EFO	6	EFO	disease	Isobutyryl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79159	"" []	5183273	\N	\N	EFO	7	EFO	disposition	Isobutyryl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79159	"" []	4401281	\N	\N	EFO	6	EFO	disease	Isobutyryl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79159	"" []	5998609	\N	\N	EFO	8	EFO	material property	Isobutyryl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79159	"" []	6551676	\N	\N	EFO	9	EFO	experimental factor	Isobutyryl-CoA dehydrogenase deficiency
Orphanet:79161	\N	\N	"" []	Orphanet:79161	"" []	77894	\N	\N	EFO	0	EFO	Disorder of carbohydrate metabolism	Disorder of carbohydrate metabolism
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79161	"" []	222249	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Disorder of carbohydrate metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79161	"" []	578325	\N	\N	EFO	2	EFO	genetic disorder	Disorder of carbohydrate metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79161	"" []	578326	\N	\N	EFO	2	EFO	metabolic disease	Disorder of carbohydrate metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79161	"" []	1161812	\N	\N	EFO	3	EFO	disease	Disorder of carbohydrate metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79161	"" []	1161813	\N	\N	EFO	3	EFO	disease	Disorder of carbohydrate metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79161	"" []	2045351	\N	\N	EFO	4	EFO	disposition	Disorder of carbohydrate metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79161	"" []	3195445	\N	\N	EFO	5	EFO	material property	Disorder of carbohydrate metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79161	"" []	4401282	\N	\N	EFO	6	EFO	experimental factor	Disorder of carbohydrate metabolism
Orphanet:79163	\N	\N	"" []	Orphanet:79163	"" []	77895	\N	\N	EFO	0	EFO	Classic organic aciduria	Classic organic aciduria
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:79163	"" []	222250	\N	\N	EFO	1	EFO	Organic aciduria	Classic organic aciduria
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79163	"" []	578327	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Classic organic aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79163	"" []	1161814	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Classic organic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79163	"" []	2045352	\N	\N	EFO	4	EFO	genetic disorder	Classic organic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79163	"" []	2045353	\N	\N	EFO	4	EFO	metabolic disease	Classic organic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79163	"" []	3195446	\N	\N	EFO	5	EFO	disease	Classic organic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79163	"" []	3195447	\N	\N	EFO	5	EFO	disease	Classic organic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79163	"" []	4401283	\N	\N	EFO	6	EFO	disposition	Classic organic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79163	"" []	5417685	\N	\N	EFO	7	EFO	material property	Classic organic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79163	"" []	6152593	\N	\N	EFO	8	EFO	experimental factor	Classic organic aciduria
Orphanet:79166	\N	\N	"" []	Orphanet:79166	"" []	77896	\N	\N	EFO	0	EFO	Disorder of amino acid absorption and transport	Disorder of amino acid absorption and transport
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:79166	"" []	222251	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of amino acid absorption and transport
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79166	"" []	578328	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of amino acid absorption and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79166	"" []	1161815	\N	\N	EFO	3	EFO	genetic disorder	Disorder of amino acid absorption and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79166	"" []	1161816	\N	\N	EFO	3	EFO	metabolic disease	Disorder of amino acid absorption and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79166	"" []	2045354	\N	\N	EFO	4	EFO	disease	Disorder of amino acid absorption and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79166	"" []	2045355	\N	\N	EFO	4	EFO	disease	Disorder of amino acid absorption and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79166	"" []	3195448	\N	\N	EFO	5	EFO	disposition	Disorder of amino acid absorption and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79166	"" []	4401284	\N	\N	EFO	6	EFO	material property	Disorder of amino acid absorption and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79166	"" []	5417686	\N	\N	EFO	7	EFO	experimental factor	Disorder of amino acid absorption and transport
Orphanet:79167	\N	\N	"" []	Orphanet:79167	"" []	77897	\N	\N	EFO	0	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Disorder of urea cycle metabolism and ammonia detoxification
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:79167	"" []	222252	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of urea cycle metabolism and ammonia detoxification
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79167	"" []	578329	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of urea cycle metabolism and ammonia detoxification
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79167	"" []	1161817	\N	\N	EFO	3	EFO	genetic disorder	Disorder of urea cycle metabolism and ammonia detoxification
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79167	"" []	1161818	\N	\N	EFO	3	EFO	metabolic disease	Disorder of urea cycle metabolism and ammonia detoxification
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79167	"" []	2045356	\N	\N	EFO	4	EFO	disease	Disorder of urea cycle metabolism and ammonia detoxification
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79167	"" []	2045357	\N	\N	EFO	4	EFO	disease	Disorder of urea cycle metabolism and ammonia detoxification
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79167	"" []	3195449	\N	\N	EFO	5	EFO	disposition	Disorder of urea cycle metabolism and ammonia detoxification
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79167	"" []	4401285	\N	\N	EFO	6	EFO	material property	Disorder of urea cycle metabolism and ammonia detoxification
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79167	"" []	5417687	\N	\N	EFO	7	EFO	experimental factor	Disorder of urea cycle metabolism and ammonia detoxification
Orphanet:79168	\N	\N	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	Orphanet:79168	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	77898	\N	\N	EFO	0	EFO	Disorder of bile acid synthesis	Disorder of bile acid synthesis
Orphanet:79226	Orphanet:79168	\N	"" []	Orphanet:79168	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	222253	\N	\N	EFO	1	EFO	Sterol metabolism disorder	Disorder of bile acid synthesis
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:79168	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	578330	\N	\N	EFO	2	EFO	Disorder of lipid metabolism	Disorder of bile acid synthesis
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:79168	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	1161819	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of bile acid synthesis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79168	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	2045358	\N	\N	EFO	4	EFO	genetic disorder	Disorder of bile acid synthesis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79168	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	2045359	\N	\N	EFO	4	EFO	metabolic disease	Disorder of bile acid synthesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79168	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	3195450	\N	\N	EFO	5	EFO	disease	Disorder of bile acid synthesis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79168	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	3195451	\N	\N	EFO	5	EFO	disease	Disorder of bile acid synthesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79168	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	4401286	\N	\N	EFO	6	EFO	disposition	Disorder of bile acid synthesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79168	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	5417688	\N	\N	EFO	7	EFO	material property	Disorder of bile acid synthesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79168	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	6152594	\N	\N	EFO	8	EFO	experimental factor	Disorder of bile acid synthesis
Orphanet:79169	\N	\N	"" []	Orphanet:79169	"" []	77899	\N	\N	EFO	0	EFO	Disorder of neurotransmitter metabolism and transport	Disorder of neurotransmitter metabolism and transport
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:79169	"" []	222254	\N	\N	EFO	1	EFO	Disorder of biogenic amine metabolism and transport	Disorder of neurotransmitter metabolism and transport
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:79169	"" []	578331	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of neurotransmitter metabolism and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79169	"" []	1161820	\N	\N	EFO	3	EFO	genetic disorder	Disorder of neurotransmitter metabolism and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79169	"" []	1161821	\N	\N	EFO	3	EFO	metabolic disease	Disorder of neurotransmitter metabolism and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79169	"" []	2045360	\N	\N	EFO	4	EFO	disease	Disorder of neurotransmitter metabolism and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79169	"" []	2045361	\N	\N	EFO	4	EFO	disease	Disorder of neurotransmitter metabolism and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79169	"" []	3195452	\N	\N	EFO	5	EFO	disposition	Disorder of neurotransmitter metabolism and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79169	"" []	4401287	\N	\N	EFO	6	EFO	material property	Disorder of neurotransmitter metabolism and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79169	"" []	5417689	\N	\N	EFO	7	EFO	experimental factor	Disorder of neurotransmitter metabolism and transport
Orphanet:79171	\N	\N	"" []	Orphanet:79171	"" []	77900	\N	\N	EFO	0	EFO	Disorder of cobalamin metabolism and transport	Disorder of cobalamin metabolism and transport
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:79171	"" []	222255	\N	\N	EFO	1	EFO	vitamin metabolic disorder	Disorder of cobalamin metabolism and transport
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:79171	"" []	222256	\N	\N	EFO	1	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Disorder of cobalamin metabolism and transport
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79171	"" []	578332	\N	\N	EFO	2	EFO	metabolic disease	Disorder of cobalamin metabolism and transport
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:79171	"" []	578333	\N	\N	EFO	2	EFO	Disorder of metabolite absorption and transport	Disorder of cobalamin metabolism and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79171	"" []	3195455	\N	\N	EFO	5	EFO	disease	Disorder of cobalamin metabolism and transport
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:79171	"" []	1161823	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of cobalamin metabolism and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79171	"" []	4066991	\N	\N	EFO	6	EFO	disposition	Disorder of cobalamin metabolism and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79171	"" []	2045363	\N	\N	EFO	4	EFO	genetic disorder	Disorder of cobalamin metabolism and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79171	"" []	2045364	\N	\N	EFO	4	EFO	metabolic disease	Disorder of cobalamin metabolism and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79171	"" []	5060247	\N	\N	EFO	7	EFO	material property	Disorder of cobalamin metabolism and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79171	"" []	3195454	\N	\N	EFO	5	EFO	disease	Disorder of cobalamin metabolism and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79171	"" []	5877687	\N	\N	EFO	8	EFO	experimental factor	Disorder of cobalamin metabolism and transport
Orphanet:79172	\N	\N	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	Orphanet:79172	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	77901	\N	\N	EFO	0	EFO	Disorder of creatine biosynthesis	Disorder of creatine biosynthesis
Orphanet:79200	Orphanet:79172	\N	"" []	Orphanet:79172	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	222257	\N	\N	EFO	1	EFO	Disorder of energy metabolism	Disorder of creatine biosynthesis
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:79172	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	578334	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of creatine biosynthesis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79172	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	1161824	\N	\N	EFO	3	EFO	genetic disorder	Disorder of creatine biosynthesis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79172	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	1161825	\N	\N	EFO	3	EFO	metabolic disease	Disorder of creatine biosynthesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79172	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	2045365	\N	\N	EFO	4	EFO	disease	Disorder of creatine biosynthesis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79172	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	2045366	\N	\N	EFO	4	EFO	disease	Disorder of creatine biosynthesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79172	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	3195456	\N	\N	EFO	5	EFO	disposition	Disorder of creatine biosynthesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79172	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	4401289	\N	\N	EFO	6	EFO	material property	Disorder of creatine biosynthesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79172	"Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." []	5417690	\N	\N	EFO	7	EFO	experimental factor	Disorder of creatine biosynthesis
Orphanet:79173	\N	\N	"" []	Orphanet:79173	"" []	77902	\N	\N	EFO	0	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Disorder of methionine cycle and sulfur amino acid metabolism
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:79173	"" []	222258	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of methionine cycle and sulfur amino acid metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79173	"" []	578335	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of methionine cycle and sulfur amino acid metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79173	"" []	1161826	\N	\N	EFO	3	EFO	genetic disorder	Disorder of methionine cycle and sulfur amino acid metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79173	"" []	1161827	\N	\N	EFO	3	EFO	metabolic disease	Disorder of methionine cycle and sulfur amino acid metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79173	"" []	2045367	\N	\N	EFO	4	EFO	disease	Disorder of methionine cycle and sulfur amino acid metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79173	"" []	2045368	\N	\N	EFO	4	EFO	disease	Disorder of methionine cycle and sulfur amino acid metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79173	"" []	3195457	\N	\N	EFO	5	EFO	disposition	Disorder of methionine cycle and sulfur amino acid metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79173	"" []	4401290	\N	\N	EFO	6	EFO	material property	Disorder of methionine cycle and sulfur amino acid metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79173	"" []	5417691	\N	\N	EFO	7	EFO	experimental factor	Disorder of methionine cycle and sulfur amino acid metabolism
Orphanet:79174	\N	\N	"" []	Orphanet:79174	"" []	77903	\N	\N	EFO	0	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Disorder of fatty acid oxidation and ketone body metabolism
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:79174	"" []	222259	\N	\N	EFO	1	EFO	Disorder of energy metabolism	Disorder of fatty acid oxidation and ketone body metabolism
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:79174	"" []	578336	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of fatty acid oxidation and ketone body metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79174	"" []	1161828	\N	\N	EFO	3	EFO	genetic disorder	Disorder of fatty acid oxidation and ketone body metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79174	"" []	1161829	\N	\N	EFO	3	EFO	metabolic disease	Disorder of fatty acid oxidation and ketone body metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79174	"" []	2045369	\N	\N	EFO	4	EFO	disease	Disorder of fatty acid oxidation and ketone body metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79174	"" []	2045370	\N	\N	EFO	4	EFO	disease	Disorder of fatty acid oxidation and ketone body metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79174	"" []	3195458	\N	\N	EFO	5	EFO	disposition	Disorder of fatty acid oxidation and ketone body metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79174	"" []	4401291	\N	\N	EFO	6	EFO	material property	Disorder of fatty acid oxidation and ketone body metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79174	"" []	5417692	\N	\N	EFO	7	EFO	experimental factor	Disorder of fatty acid oxidation and ketone body metabolism
Orphanet:79175	\N	\N	"" []	Orphanet:79175	"" []	77904	\N	\N	EFO	0	EFO	Disorder of gamma-aminobutyric acid metabolism	Disorder of gamma-aminobutyric acid metabolism
Orphanet:79214	Orphanet:79175	\N	"" []	Orphanet:79175	"" []	222260	\N	\N	EFO	1	EFO	Disorder of biogenic amine metabolism and transport	Disorder of gamma-aminobutyric acid metabolism
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:79175	"" []	578337	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of gamma-aminobutyric acid metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79175	"" []	1161830	\N	\N	EFO	3	EFO	genetic disorder	Disorder of gamma-aminobutyric acid metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79175	"" []	1161831	\N	\N	EFO	3	EFO	metabolic disease	Disorder of gamma-aminobutyric acid metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79175	"" []	2045371	\N	\N	EFO	4	EFO	disease	Disorder of gamma-aminobutyric acid metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79175	"" []	2045372	\N	\N	EFO	4	EFO	disease	Disorder of gamma-aminobutyric acid metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79175	"" []	3195459	\N	\N	EFO	5	EFO	disposition	Disorder of gamma-aminobutyric acid metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79175	"" []	4401292	\N	\N	EFO	6	EFO	material property	Disorder of gamma-aminobutyric acid metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79175	"" []	5417693	\N	\N	EFO	7	EFO	experimental factor	Disorder of gamma-aminobutyric acid metabolism
Orphanet:79177	\N	\N	"" []	Orphanet:79177	"" []	77905	\N	\N	EFO	0	EFO	Gluconeogenesis disorder	Gluconeogenesis disorder
Orphanet:79161	Orphanet:79177	\N	"" []	Orphanet:79177	"" []	222261	\N	\N	EFO	1	EFO	Disorder of carbohydrate metabolism	Gluconeogenesis disorder
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79177	"" []	578338	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Gluconeogenesis disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79177	"" []	1161832	\N	\N	EFO	3	EFO	genetic disorder	Gluconeogenesis disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79177	"" []	1161833	\N	\N	EFO	3	EFO	metabolic disease	Gluconeogenesis disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79177	"" []	2045373	\N	\N	EFO	4	EFO	disease	Gluconeogenesis disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79177	"" []	2045374	\N	\N	EFO	4	EFO	disease	Gluconeogenesis disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79177	"" []	3195460	\N	\N	EFO	5	EFO	disposition	Gluconeogenesis disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79177	"" []	4401293	\N	\N	EFO	6	EFO	material property	Gluconeogenesis disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79177	"" []	5417694	\N	\N	EFO	7	EFO	experimental factor	Gluconeogenesis disorder
Orphanet:79178	\N	\N	"" []	Orphanet:79178	"" []	77906	\N	\N	EFO	0	EFO	Glucose transport disorder	Glucose transport disorder
Orphanet:309001	Orphanet:79178	\N	"" []	Orphanet:79178	"" []	222262	\N	\N	EFO	1	EFO	Disorder of carbohydrate absorption and transport	Glucose transport disorder
Orphanet:79161	Orphanet:309001	\N	"" []	Orphanet:79178	"" []	578339	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glucose transport disorder
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79178	"" []	1161834	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glucose transport disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79178	"" []	2045375	\N	\N	EFO	4	EFO	genetic disorder	Glucose transport disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79178	"" []	2045376	\N	\N	EFO	4	EFO	metabolic disease	Glucose transport disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79178	"" []	3195461	\N	\N	EFO	5	EFO	disease	Glucose transport disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79178	"" []	3195462	\N	\N	EFO	5	EFO	disease	Glucose transport disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79178	"" []	4401294	\N	\N	EFO	6	EFO	disposition	Glucose transport disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79178	"" []	5417695	\N	\N	EFO	7	EFO	material property	Glucose transport disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79178	"" []	6152595	\N	\N	EFO	8	EFO	experimental factor	Glucose transport disorder
Orphanet:79179	\N	\N	"" []	Orphanet:79179	"" []	77907	\N	\N	EFO	0	EFO	Disorder of glycerol metabolism	Disorder of glycerol metabolism
Orphanet:79161	Orphanet:79179	\N	"" []	Orphanet:79179	"" []	222263	\N	\N	EFO	1	EFO	Disorder of carbohydrate metabolism	Disorder of glycerol metabolism
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79179	"" []	578340	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of glycerol metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79179	"" []	1161835	\N	\N	EFO	3	EFO	genetic disorder	Disorder of glycerol metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79179	"" []	1161836	\N	\N	EFO	3	EFO	metabolic disease	Disorder of glycerol metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79179	"" []	2045377	\N	\N	EFO	4	EFO	disease	Disorder of glycerol metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79179	"" []	2045378	\N	\N	EFO	4	EFO	disease	Disorder of glycerol metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79179	"" []	3195463	\N	\N	EFO	5	EFO	disposition	Disorder of glycerol metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79179	"" []	4401295	\N	\N	EFO	6	EFO	material property	Disorder of glycerol metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79179	"" []	5417696	\N	\N	EFO	7	EFO	experimental factor	Disorder of glycerol metabolism
Orphanet:79181	\N	\N	"" []	Orphanet:79181	"" []	77908	\N	\N	EFO	0	EFO	Disorder of histidine metabolism	Disorder of histidine metabolism
Orphanet:79062	Orphanet:79181	\N	"" []	Orphanet:79181	"" []	222264	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of histidine metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79181	"" []	578341	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of histidine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79181	"" []	1161837	\N	\N	EFO	3	EFO	genetic disorder	Disorder of histidine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79181	"" []	1161838	\N	\N	EFO	3	EFO	metabolic disease	Disorder of histidine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79181	"" []	2045379	\N	\N	EFO	4	EFO	disease	Disorder of histidine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79181	"" []	2045380	\N	\N	EFO	4	EFO	disease	Disorder of histidine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79181	"" []	3195464	\N	\N	EFO	5	EFO	disposition	Disorder of histidine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79181	"" []	4401296	\N	\N	EFO	6	EFO	material property	Disorder of histidine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79181	"" []	5417697	\N	\N	EFO	7	EFO	experimental factor	Disorder of histidine metabolism
Orphanet:79183	\N	\N	"" []	Orphanet:79183	"" []	77909	\N	\N	EFO	0	EFO	Disorder of ketone body metabolism	Disorder of ketone body metabolism
Orphanet:79174	Orphanet:79183	\N	"" []	Orphanet:79183	"" []	222265	\N	\N	EFO	1	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Disorder of ketone body metabolism
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:79183	"" []	578342	\N	\N	EFO	2	EFO	Disorder of energy metabolism	Disorder of ketone body metabolism
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:79183	"" []	1161839	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Disorder of ketone body metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79183	"" []	2045381	\N	\N	EFO	4	EFO	genetic disorder	Disorder of ketone body metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79183	"" []	2045382	\N	\N	EFO	4	EFO	metabolic disease	Disorder of ketone body metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79183	"" []	3195465	\N	\N	EFO	5	EFO	disease	Disorder of ketone body metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79183	"" []	3195466	\N	\N	EFO	5	EFO	disease	Disorder of ketone body metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79183	"" []	4401297	\N	\N	EFO	6	EFO	disposition	Disorder of ketone body metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79183	"" []	5417698	\N	\N	EFO	7	EFO	material property	Disorder of ketone body metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79183	"" []	6152596	\N	\N	EFO	8	EFO	experimental factor	Disorder of ketone body metabolism
Orphanet:79185	\N	\N	"" []	Orphanet:79185	"" []	77910	\N	\N	EFO	0	EFO	Disorder of ornithine or proline metabolism	Disorder of ornithine or proline metabolism
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:79185	"" []	222266	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of ornithine or proline metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79185	"" []	578343	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of ornithine or proline metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79185	"" []	1161840	\N	\N	EFO	3	EFO	genetic disorder	Disorder of ornithine or proline metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79185	"" []	1161841	\N	\N	EFO	3	EFO	metabolic disease	Disorder of ornithine or proline metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79185	"" []	2045383	\N	\N	EFO	4	EFO	disease	Disorder of ornithine or proline metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79185	"" []	2045384	\N	\N	EFO	4	EFO	disease	Disorder of ornithine or proline metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79185	"" []	3195467	\N	\N	EFO	5	EFO	disposition	Disorder of ornithine or proline metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79185	"" []	4401298	\N	\N	EFO	6	EFO	material property	Disorder of ornithine or proline metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79185	"" []	5417699	\N	\N	EFO	7	EFO	experimental factor	Disorder of ornithine or proline metabolism
Orphanet:79186	\N	\N	"" []	Orphanet:79186	"" []	77911	\N	\N	EFO	0	EFO	Disorder of pentose phosphate metabolism	Disorder of pentose phosphate metabolism
Orphanet:79161	Orphanet:79186	\N	"" []	Orphanet:79186	"" []	222267	\N	\N	EFO	1	EFO	Disorder of carbohydrate metabolism	Disorder of pentose phosphate metabolism
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79186	"" []	578344	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of pentose phosphate metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79186	"" []	1161842	\N	\N	EFO	3	EFO	genetic disorder	Disorder of pentose phosphate metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79186	"" []	1161843	\N	\N	EFO	3	EFO	metabolic disease	Disorder of pentose phosphate metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79186	"" []	2045385	\N	\N	EFO	4	EFO	disease	Disorder of pentose phosphate metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79186	"" []	2045386	\N	\N	EFO	4	EFO	disease	Disorder of pentose phosphate metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79186	"" []	3195468	\N	\N	EFO	5	EFO	disposition	Disorder of pentose phosphate metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79186	"" []	4401299	\N	\N	EFO	6	EFO	material property	Disorder of pentose phosphate metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79186	"" []	5417700	\N	\N	EFO	7	EFO	experimental factor	Disorder of pentose phosphate metabolism
Orphanet:79187	\N	\N	"" []	Orphanet:79187	"" []	77912	\N	\N	EFO	0	EFO	Disorder of peptide metabolism	Disorder of peptide metabolism
Orphanet:79062	Orphanet:79187	\N	"" []	Orphanet:79187	"" []	222268	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of peptide metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79187	"" []	578345	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of peptide metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79187	"" []	1161844	\N	\N	EFO	3	EFO	genetic disorder	Disorder of peptide metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79187	"" []	1161845	\N	\N	EFO	3	EFO	metabolic disease	Disorder of peptide metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79187	"" []	2045387	\N	\N	EFO	4	EFO	disease	Disorder of peptide metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79187	"" []	2045388	\N	\N	EFO	4	EFO	disease	Disorder of peptide metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79187	"" []	3195469	\N	\N	EFO	5	EFO	disposition	Disorder of peptide metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79187	"" []	4401300	\N	\N	EFO	6	EFO	material property	Disorder of peptide metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79187	"" []	5417701	\N	\N	EFO	7	EFO	experimental factor	Disorder of peptide metabolism
Orphanet:79188	\N	\N	"" []	Orphanet:79188	"" []	77913	\N	\N	EFO	0	EFO	Peroxisomal beta-oxidation disorder	Peroxisomal beta-oxidation disorder
Orphanet:309810	Orphanet:79188	\N	"" []	Orphanet:79188	"" []	222269	\N	\N	EFO	1	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	Peroxisomal beta-oxidation disorder
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:79188	"" []	578346	\N	\N	EFO	2	EFO	Peroxisomal disease	Peroxisomal beta-oxidation disorder
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:79188	"" []	1161846	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Peroxisomal beta-oxidation disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79188	"" []	2045389	\N	\N	EFO	4	EFO	genetic disorder	Peroxisomal beta-oxidation disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79188	"" []	2045390	\N	\N	EFO	4	EFO	metabolic disease	Peroxisomal beta-oxidation disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79188	"" []	3195470	\N	\N	EFO	5	EFO	disease	Peroxisomal beta-oxidation disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79188	"" []	3195471	\N	\N	EFO	5	EFO	disease	Peroxisomal beta-oxidation disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79188	"" []	4401301	\N	\N	EFO	6	EFO	disposition	Peroxisomal beta-oxidation disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79188	"" []	5417702	\N	\N	EFO	7	EFO	material property	Peroxisomal beta-oxidation disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79188	"" []	6152597	\N	\N	EFO	8	EFO	experimental factor	Peroxisomal beta-oxidation disorder
Orphanet:79189	\N	\N	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	77914	\N	\N	EFO	0	EFO	Peroxisome biogenesis disorder-Zellweger syndrome spectrum	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:101940	Orphanet:79189	\N	"" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	222270	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:207018	Orphanet:79189	\N	"" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	222271	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:68356	Orphanet:79189	\N	"" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	222272	\N	\N	EFO	1	EFO	Leukodystrophy	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:68373	Orphanet:79189	\N	"" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	222273	\N	\N	EFO	1	EFO	Peroxisomal disease	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:68385	Orphanet:79189	\N	"" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	222274	\N	\N	EFO	1	EFO	Neurometabolic disease	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	578347	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	578348	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	578349	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	578350	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	578351	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	1161847	\N	\N	EFO	3	EFO	digestive system disease	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	1161848	\N	\N	EFO	3	EFO	genetic disorder	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	1161849	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	3195473	\N	\N	EFO	5	EFO	genetic disorder	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	1161851	\N	\N	EFO	3	EFO	genetic disorder	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	1161852	\N	\N	EFO	3	EFO	metabolic disease	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	2045391	\N	\N	EFO	4	EFO	disease	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	4066992	\N	\N	EFO	6	EFO	disease	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	2045393	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	2045394	\N	\N	EFO	4	EFO	disease	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	5060248	\N	\N	EFO	7	EFO	disposition	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	5877688	\N	\N	EFO	8	EFO	material property	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79189	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	6470917	\N	\N	EFO	9	EFO	experimental factor	Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Orphanet:79190	\N	\N	"" []	Orphanet:79190	"" []	77915	\N	\N	EFO	0	EFO	Disorder of phenylalanin or tyrosine metabolism	Disorder of phenylalanin or tyrosine metabolism
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:79190	"" []	222275	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of phenylalanin or tyrosine metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79190	"" []	578352	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of phenylalanin or tyrosine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79190	"" []	1161853	\N	\N	EFO	3	EFO	genetic disorder	Disorder of phenylalanin or tyrosine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79190	"" []	1161854	\N	\N	EFO	3	EFO	metabolic disease	Disorder of phenylalanin or tyrosine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79190	"" []	2045395	\N	\N	EFO	4	EFO	disease	Disorder of phenylalanin or tyrosine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79190	"" []	2045396	\N	\N	EFO	4	EFO	disease	Disorder of phenylalanin or tyrosine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79190	"" []	3195474	\N	\N	EFO	5	EFO	disposition	Disorder of phenylalanin or tyrosine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79190	"" []	4401303	\N	\N	EFO	6	EFO	material property	Disorder of phenylalanin or tyrosine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79190	"" []	5417704	\N	\N	EFO	7	EFO	experimental factor	Disorder of phenylalanin or tyrosine metabolism
Orphanet:79191	\N	\N	"" []	Orphanet:79191	"" []	77916	\N	\N	EFO	0	EFO	Disorder of purine metabolism	Disorder of purine metabolism
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:79191	"" []	222276	\N	\N	EFO	1	EFO	Disorder of purine or pyrimidine metabolism	Disorder of purine metabolism
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:79191	"" []	578353	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of purine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79191	"" []	1161855	\N	\N	EFO	3	EFO	genetic disorder	Disorder of purine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79191	"" []	1161856	\N	\N	EFO	3	EFO	metabolic disease	Disorder of purine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79191	"" []	2045397	\N	\N	EFO	4	EFO	disease	Disorder of purine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79191	"" []	2045398	\N	\N	EFO	4	EFO	disease	Disorder of purine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79191	"" []	3195475	\N	\N	EFO	5	EFO	disposition	Disorder of purine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79191	"" []	4401304	\N	\N	EFO	6	EFO	material property	Disorder of purine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79191	"" []	5417705	\N	\N	EFO	7	EFO	experimental factor	Disorder of purine metabolism
Orphanet:79192	\N	\N	"" []	Orphanet:79192	"" []	77917	\N	\N	EFO	0	EFO	Disorder of pyridoxine metabolism	Disorder of pyridoxine metabolism
Orphanet:79214	Orphanet:79192	\N	"" []	Orphanet:79192	"" []	222277	\N	\N	EFO	1	EFO	Disorder of biogenic amine metabolism and transport	Disorder of pyridoxine metabolism
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:79192	"" []	578354	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of pyridoxine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79192	"" []	1161857	\N	\N	EFO	3	EFO	genetic disorder	Disorder of pyridoxine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79192	"" []	1161858	\N	\N	EFO	3	EFO	metabolic disease	Disorder of pyridoxine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79192	"" []	2045399	\N	\N	EFO	4	EFO	disease	Disorder of pyridoxine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79192	"" []	2045400	\N	\N	EFO	4	EFO	disease	Disorder of pyridoxine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79192	"" []	3195476	\N	\N	EFO	5	EFO	disposition	Disorder of pyridoxine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79192	"" []	4401305	\N	\N	EFO	6	EFO	material property	Disorder of pyridoxine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79192	"" []	5417706	\N	\N	EFO	7	EFO	experimental factor	Disorder of pyridoxine metabolism
Orphanet:79193	\N	\N	"ANPM" []	Orphanet:79193	"ANPM" []	77918	\N	\N	EFO	0	EFO	Disorder of pyrimidine metabolism	Disorder of pyrimidine metabolism
Orphanet:79224	Orphanet:79193	\N	"" []	Orphanet:79193	"ANPM" []	222278	\N	\N	EFO	1	EFO	Disorder of purine or pyrimidine metabolism	Disorder of pyrimidine metabolism
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:79193	"ANPM" []	578355	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of pyrimidine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79193	"ANPM" []	1161859	\N	\N	EFO	3	EFO	genetic disorder	Disorder of pyrimidine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79193	"ANPM" []	1161860	\N	\N	EFO	3	EFO	metabolic disease	Disorder of pyrimidine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79193	"ANPM" []	2045401	\N	\N	EFO	4	EFO	disease	Disorder of pyrimidine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79193	"ANPM" []	2045402	\N	\N	EFO	4	EFO	disease	Disorder of pyrimidine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79193	"ANPM" []	3195477	\N	\N	EFO	5	EFO	disposition	Disorder of pyrimidine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79193	"ANPM" []	4401306	\N	\N	EFO	6	EFO	material property	Disorder of pyrimidine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79193	"ANPM" []	5417707	\N	\N	EFO	7	EFO	experimental factor	Disorder of pyrimidine metabolism
Orphanet:79194	\N	\N	"" []	Orphanet:79194	"" []	77919	\N	\N	EFO	0	EFO	Disorder of serine or glycine metabolism	Disorder of serine or glycine metabolism
Orphanet:79062	Orphanet:79194	\N	"" []	Orphanet:79194	"" []	222279	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of serine or glycine metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79194	"" []	578356	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of serine or glycine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79194	"" []	1161861	\N	\N	EFO	3	EFO	genetic disorder	Disorder of serine or glycine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79194	"" []	1161862	\N	\N	EFO	3	EFO	metabolic disease	Disorder of serine or glycine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79194	"" []	2045403	\N	\N	EFO	4	EFO	disease	Disorder of serine or glycine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79194	"" []	2045404	\N	\N	EFO	4	EFO	disease	Disorder of serine or glycine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79194	"" []	3195478	\N	\N	EFO	5	EFO	disposition	Disorder of serine or glycine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79194	"" []	4401307	\N	\N	EFO	6	EFO	material property	Disorder of serine or glycine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79194	"" []	5417708	\N	\N	EFO	7	EFO	experimental factor	Disorder of serine or glycine metabolism
Orphanet:79195	\N	\N	"" []	Orphanet:79195	"" []	77920	\N	\N	EFO	0	EFO	Sterol biosynthesis disorder	Sterol biosynthesis disorder
Orphanet:139009	Orphanet:79195	\N	"" []	Orphanet:79195	"" []	222280	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Sterol biosynthesis disorder
Orphanet:79226	Orphanet:79195	\N	"" []	Orphanet:79195	"" []	222281	\N	\N	EFO	1	EFO	Sterol metabolism disorder	Sterol biosynthesis disorder
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79195	"" []	578357	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Sterol biosynthesis disorder
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:79195	"" []	578358	\N	\N	EFO	2	EFO	Disorder of lipid metabolism	Sterol biosynthesis disorder
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79195	"" []	1161863	\N	\N	EFO	3	EFO	genetic disorder	Sterol biosynthesis disorder
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:79195	"" []	1161864	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Sterol biosynthesis disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79195	"" []	3195480	\N	\N	EFO	5	EFO	disease	Sterol biosynthesis disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79195	"" []	2045406	\N	\N	EFO	4	EFO	genetic disorder	Sterol biosynthesis disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79195	"" []	2045407	\N	\N	EFO	4	EFO	metabolic disease	Sterol biosynthesis disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79195	"" []	4134330	\N	\N	EFO	6	EFO	disposition	Sterol biosynthesis disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79195	"" []	3195481	\N	\N	EFO	5	EFO	disease	Sterol biosynthesis disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79195	"" []	5183274	\N	\N	EFO	7	EFO	material property	Sterol biosynthesis disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79195	"" []	5998610	\N	\N	EFO	8	EFO	experimental factor	Sterol biosynthesis disorder
Orphanet:79196	\N	\N	"" []	Orphanet:79196	"" []	77921	\N	\N	EFO	0	EFO	Disorder of the gamma-glutamyl cycle	Disorder of the gamma-glutamyl cycle
Orphanet:79062	Orphanet:79196	\N	"" []	Orphanet:79196	"" []	222282	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of the gamma-glutamyl cycle
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79196	"" []	578359	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of the gamma-glutamyl cycle
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79196	"" []	1161865	\N	\N	EFO	3	EFO	genetic disorder	Disorder of the gamma-glutamyl cycle
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79196	"" []	1161866	\N	\N	EFO	3	EFO	metabolic disease	Disorder of the gamma-glutamyl cycle
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79196	"" []	2045408	\N	\N	EFO	4	EFO	disease	Disorder of the gamma-glutamyl cycle
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79196	"" []	2045409	\N	\N	EFO	4	EFO	disease	Disorder of the gamma-glutamyl cycle
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79196	"" []	3195482	\N	\N	EFO	5	EFO	disposition	Disorder of the gamma-glutamyl cycle
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79196	"" []	4401309	\N	\N	EFO	6	EFO	material property	Disorder of the gamma-glutamyl cycle
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79196	"" []	5417710	\N	\N	EFO	7	EFO	experimental factor	Disorder of the gamma-glutamyl cycle
Orphanet:79197	\N	\N	"" []	Orphanet:79197	"" []	77922	\N	\N	EFO	0	EFO	Disorder of branched-chain amino acid metabolism	Disorder of branched-chain amino acid metabolism
Orphanet:79062	Orphanet:79197	\N	"" []	Orphanet:79197	"" []	222283	\N	\N	EFO	1	EFO	Disorder of amino acid and other organic acid metabolism	Disorder of branched-chain amino acid metabolism
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79197	"" []	578360	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of branched-chain amino acid metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79197	"" []	1161867	\N	\N	EFO	3	EFO	genetic disorder	Disorder of branched-chain amino acid metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79197	"" []	1161868	\N	\N	EFO	3	EFO	metabolic disease	Disorder of branched-chain amino acid metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79197	"" []	2045410	\N	\N	EFO	4	EFO	disease	Disorder of branched-chain amino acid metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79197	"" []	2045411	\N	\N	EFO	4	EFO	disease	Disorder of branched-chain amino acid metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79197	"" []	3195483	\N	\N	EFO	5	EFO	disposition	Disorder of branched-chain amino acid metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79197	"" []	4401310	\N	\N	EFO	6	EFO	material property	Disorder of branched-chain amino acid metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79197	"" []	5417711	\N	\N	EFO	7	EFO	experimental factor	Disorder of branched-chain amino acid metabolism
Orphanet:792	\N	\N	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	77923	\N	\N	EFO	0	EFO	X-linked retinoschisis	X-linked retinoschisis
Orphanet:108985	Orphanet:792	\N	"" []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	222284	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	X-linked retinoschisis
Orphanet:98666	Orphanet:792	\N	"" []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	222285	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	X-linked retinoschisis
Orphanet:98670	Orphanet:792	\N	"" []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	222286	\N	\N	EFO	1	EFO	Vitreoretinal degeneration	X-linked retinoschisis
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	578361	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	X-linked retinoschisis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	578362	\N	\N	EFO	2	EFO	Genetic macular dystrophy	X-linked retinoschisis
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	578363	\N	\N	EFO	2	EFO	Vitreoretinopathy	X-linked retinoschisis
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	1161869	\N	\N	EFO	3	EFO	Rare genetic eye disease	X-linked retinoschisis
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	1161870	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked retinoschisis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	1161871	\N	\N	EFO	3	EFO	Retinal dystrophy	X-linked retinoschisis
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	1161872	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	X-linked retinoschisis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	4134333	\N	\N	EFO	6	EFO	genetic disorder	X-linked retinoschisis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	4134334	\N	\N	EFO	6	EFO	eye disease	X-linked retinoschisis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	2045414	\N	\N	EFO	4	EFO	genetic disorder	X-linked retinoschisis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	2045415	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	X-linked retinoschisis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	3195486	\N	\N	EFO	5	EFO	Rare genetic eye disease	X-linked retinoschisis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	5060249	\N	\N	EFO	7	EFO	disease	X-linked retinoschisis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	5060250	\N	\N	EFO	7	EFO	disease	X-linked retinoschisis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	5877689	\N	\N	EFO	8	EFO	disposition	X-linked retinoschisis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	6470918	\N	\N	EFO	9	EFO	material property	X-linked retinoschisis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:792	"X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." []	6848769	\N	\N	EFO	10	EFO	experimental factor	X-linked retinoschisis
Orphanet:79200	\N	\N	"" []	Orphanet:79200	"" []	77924	\N	\N	EFO	0	EFO	Disorder of energy metabolism	Disorder of energy metabolism
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:79200	"" []	222287	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Disorder of energy metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79200	"" []	578364	\N	\N	EFO	2	EFO	genetic disorder	Disorder of energy metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79200	"" []	578365	\N	\N	EFO	2	EFO	metabolic disease	Disorder of energy metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79200	"" []	1161873	\N	\N	EFO	3	EFO	disease	Disorder of energy metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79200	"" []	1161874	\N	\N	EFO	3	EFO	disease	Disorder of energy metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79200	"" []	2045417	\N	\N	EFO	4	EFO	disposition	Disorder of energy metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79200	"" []	3195489	\N	\N	EFO	5	EFO	material property	Disorder of energy metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79200	"" []	4401312	\N	\N	EFO	6	EFO	experimental factor	Disorder of energy metabolism
Orphanet:79201	\N	\N	"" []	Orphanet:79201	"" []	77925	\N	\N	EFO	0	EFO	Glycogen storage disease	Glycogen storage disease
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:79201	"" []	222288	\N	\N	EFO	1	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79201	"" []	578366	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Glycogen storage disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79201	"" []	1161875	\N	\N	EFO	3	EFO	genetic disorder	Glycogen storage disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79201	"" []	1161876	\N	\N	EFO	3	EFO	metabolic disease	Glycogen storage disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79201	"" []	2045418	\N	\N	EFO	4	EFO	disease	Glycogen storage disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79201	"" []	2045419	\N	\N	EFO	4	EFO	disease	Glycogen storage disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79201	"" []	3195490	\N	\N	EFO	5	EFO	disposition	Glycogen storage disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79201	"" []	4401313	\N	\N	EFO	6	EFO	material property	Glycogen storage disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79201	"" []	5417713	\N	\N	EFO	7	EFO	experimental factor	Glycogen storage disease
Orphanet:79204	\N	\N	"" []	Orphanet:79204	"" []	77926	\N	\N	EFO	0	EFO	Lipid storage disease	Lipid storage disease
Orphanet:79225	Orphanet:79204	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:79204	"" []	222289	\N	\N	EFO	1	EFO	Sphingolipidosis	Lipid storage disease
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:79204	"" []	578367	\N	\N	EFO	2	EFO	Lysosomal disease	Lipid storage disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79204	"" []	1161877	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Lipid storage disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79204	"" []	2045420	\N	\N	EFO	4	EFO	genetic disorder	Lipid storage disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79204	"" []	2045421	\N	\N	EFO	4	EFO	metabolic disease	Lipid storage disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79204	"" []	3195491	\N	\N	EFO	5	EFO	disease	Lipid storage disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79204	"" []	3195492	\N	\N	EFO	5	EFO	disease	Lipid storage disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79204	"" []	4401314	\N	\N	EFO	6	EFO	disposition	Lipid storage disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79204	"" []	5417714	\N	\N	EFO	7	EFO	material property	Lipid storage disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79204	"" []	6152599	\N	\N	EFO	8	EFO	experimental factor	Lipid storage disease
Orphanet:79207	\N	\N	"" []	Orphanet:79207	"" []	77927	\N	\N	EFO	0	EFO	Disorder of lysosomal amino acid transport	Disorder of lysosomal amino acid transport
Orphanet:68366	Orphanet:79207	\N	"" []	Orphanet:79207	"" []	222290	\N	\N	EFO	1	EFO	Lysosomal disease	Disorder of lysosomal amino acid transport
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79207	"" []	578368	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Disorder of lysosomal amino acid transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79207	"" []	1161878	\N	\N	EFO	3	EFO	genetic disorder	Disorder of lysosomal amino acid transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79207	"" []	1161879	\N	\N	EFO	3	EFO	metabolic disease	Disorder of lysosomal amino acid transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79207	"" []	2045422	\N	\N	EFO	4	EFO	disease	Disorder of lysosomal amino acid transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79207	"" []	2045423	\N	\N	EFO	4	EFO	disease	Disorder of lysosomal amino acid transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79207	"" []	3195493	\N	\N	EFO	5	EFO	disposition	Disorder of lysosomal amino acid transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79207	"" []	4401315	\N	\N	EFO	6	EFO	material property	Disorder of lysosomal amino acid transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79207	"" []	5417715	\N	\N	EFO	7	EFO	experimental factor	Disorder of lysosomal amino acid transport
Orphanet:79211	\N	\N	"" []	Orphanet:79211	"" []	77928	\N	\N	EFO	0	EFO	Combined hyperlipidemia	Combined hyperlipidemia
Orphanet:181422	Orphanet:79211	\N	"" []	Orphanet:79211	"" []	222291	\N	\N	EFO	1	EFO	Rare hyperlipidemia	Combined hyperlipidemia
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:79211	"" []	578369	\N	\N	EFO	2	EFO	Rare dyslipidemia	Combined hyperlipidemia
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:79211	"" []	1161880	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Combined hyperlipidemia
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:79211	"" []	1161881	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Combined hyperlipidemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79211	"" []	2045424	\N	\N	EFO	4	EFO	genetic disorder	Combined hyperlipidemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79211	"" []	2045425	\N	\N	EFO	4	EFO	endocrine system disease	Combined hyperlipidemia
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:79211	"" []	2045426	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Combined hyperlipidemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79211	"" []	4401317	\N	\N	EFO	6	EFO	disease	Combined hyperlipidemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79211	"" []	3195495	\N	\N	EFO	5	EFO	disease	Combined hyperlipidemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79211	"" []	3195496	\N	\N	EFO	5	EFO	genetic disorder	Combined hyperlipidemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79211	"" []	3195497	\N	\N	EFO	5	EFO	metabolic disease	Combined hyperlipidemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79211	"" []	5183276	\N	\N	EFO	7	EFO	disposition	Combined hyperlipidemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79211	"" []	4401318	\N	\N	EFO	6	EFO	disease	Combined hyperlipidemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79211	"" []	5998612	\N	\N	EFO	8	EFO	material property	Combined hyperlipidemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79211	"" []	6551678	\N	\N	EFO	9	EFO	experimental factor	Combined hyperlipidemia
Orphanet:79212	\N	\N	"" []	Orphanet:79212	"" []	77929	\N	\N	EFO	0	EFO	Mucolipidosis	Mucolipidosis
Orphanet:139009	Orphanet:79212	\N	"" []	Orphanet:79212	"" []	222292	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Mucolipidosis
Orphanet:309279	Orphanet:79212	\N	"" []	Orphanet:79212	"" []	222293	\N	\N	EFO	1	EFO	Glycoproteinosis	Mucolipidosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79212	"" []	578370	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Mucolipidosis
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:79212	"" []	578371	\N	\N	EFO	2	EFO	Lysosomal disease	Mucolipidosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79212	"" []	1161882	\N	\N	EFO	3	EFO	genetic disorder	Mucolipidosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79212	"" []	1161883	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Mucolipidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79212	"" []	3195499	\N	\N	EFO	5	EFO	disease	Mucolipidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79212	"" []	2045428	\N	\N	EFO	4	EFO	genetic disorder	Mucolipidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79212	"" []	2045429	\N	\N	EFO	4	EFO	metabolic disease	Mucolipidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79212	"" []	4134335	\N	\N	EFO	6	EFO	disposition	Mucolipidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79212	"" []	3195500	\N	\N	EFO	5	EFO	disease	Mucolipidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79212	"" []	5183277	\N	\N	EFO	7	EFO	material property	Mucolipidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79212	"" []	5998613	\N	\N	EFO	8	EFO	experimental factor	Mucolipidosis
Orphanet:79213	\N	\N	"" []	Orphanet:79213	"" []	77930	\N	\N	EFO	0	EFO	Mucopolysaccharidosis	Mucopolysaccharidosis
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:79213	"" []	222294	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Mucopolysaccharidosis
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:79213	"" []	222295	\N	\N	EFO	1	EFO	Lysosomal disease	Mucopolysaccharidosis
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:79213	"" []	222296	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Mucopolysaccharidosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79213	"" []	578372	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Mucopolysaccharidosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79213	"" []	578373	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Mucopolysaccharidosis
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:79213	"" []	578374	\N	\N	EFO	2	EFO	Rare genetic eye disease	Mucopolysaccharidosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79213	"" []	1161884	\N	\N	EFO	3	EFO	genetic disorder	Mucopolysaccharidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79213	"" []	1161885	\N	\N	EFO	3	EFO	genetic disorder	Mucopolysaccharidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79213	"" []	1161886	\N	\N	EFO	3	EFO	metabolic disease	Mucopolysaccharidosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79213	"" []	1161887	\N	\N	EFO	3	EFO	genetic disorder	Mucopolysaccharidosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79213	"" []	1161888	\N	\N	EFO	3	EFO	eye disease	Mucopolysaccharidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79213	"" []	2045430	\N	\N	EFO	4	EFO	disease	Mucopolysaccharidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79213	"" []	2045431	\N	\N	EFO	4	EFO	disease	Mucopolysaccharidosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79213	"" []	2045432	\N	\N	EFO	4	EFO	disease	Mucopolysaccharidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79213	"" []	3195501	\N	\N	EFO	5	EFO	disposition	Mucopolysaccharidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79213	"" []	4401320	\N	\N	EFO	6	EFO	material property	Mucopolysaccharidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79213	"" []	5417718	\N	\N	EFO	7	EFO	experimental factor	Mucopolysaccharidosis
Orphanet:79214	\N	\N	"" []	Orphanet:79214	"" []	77931	\N	\N	EFO	0	EFO	Disorder of biogenic amine metabolism and transport	Disorder of biogenic amine metabolism and transport
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:79214	"" []	222297	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Disorder of biogenic amine metabolism and transport
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79214	"" []	578375	\N	\N	EFO	2	EFO	genetic disorder	Disorder of biogenic amine metabolism and transport
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79214	"" []	578376	\N	\N	EFO	2	EFO	metabolic disease	Disorder of biogenic amine metabolism and transport
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79214	"" []	1161889	\N	\N	EFO	3	EFO	disease	Disorder of biogenic amine metabolism and transport
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79214	"" []	1161890	\N	\N	EFO	3	EFO	disease	Disorder of biogenic amine metabolism and transport
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79214	"" []	2045433	\N	\N	EFO	4	EFO	disposition	Disorder of biogenic amine metabolism and transport
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79214	"" []	3195502	\N	\N	EFO	5	EFO	material property	Disorder of biogenic amine metabolism and transport
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79214	"" []	4401321	\N	\N	EFO	6	EFO	experimental factor	Disorder of biogenic amine metabolism and transport
Orphanet:79215	\N	\N	"" []	Orphanet:79215	"" []	77932	\N	\N	EFO	0	EFO	Oligosaccharidosis	Oligosaccharidosis
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:79215	"" []	222298	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Oligosaccharidosis
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:79215	"" []	222299	\N	\N	EFO	1	EFO	Glycoproteinosis	Oligosaccharidosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79215	"" []	578377	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Oligosaccharidosis
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:79215	"" []	578378	\N	\N	EFO	2	EFO	Lysosomal disease	Oligosaccharidosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79215	"" []	1161891	\N	\N	EFO	3	EFO	genetic disorder	Oligosaccharidosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79215	"" []	1161892	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Oligosaccharidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79215	"" []	3195504	\N	\N	EFO	5	EFO	disease	Oligosaccharidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79215	"" []	2045435	\N	\N	EFO	4	EFO	genetic disorder	Oligosaccharidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79215	"" []	2045436	\N	\N	EFO	4	EFO	metabolic disease	Oligosaccharidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79215	"" []	4134336	\N	\N	EFO	6	EFO	disposition	Oligosaccharidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79215	"" []	3195505	\N	\N	EFO	5	EFO	disease	Oligosaccharidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79215	"" []	5183278	\N	\N	EFO	7	EFO	material property	Oligosaccharidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79215	"" []	5998614	\N	\N	EFO	8	EFO	experimental factor	Oligosaccharidosis
Orphanet:79219	\N	\N	"" []	Orphanet:79219	"" []	77933	\N	\N	EFO	0	EFO	Metabolic disease involving other neurotransmitter deficiency	Metabolic disease involving other neurotransmitter deficiency
Orphanet:79214	Orphanet:79219	\N	"" []	Orphanet:79219	"" []	222300	\N	\N	EFO	1	EFO	Disorder of biogenic amine metabolism and transport	Metabolic disease involving other neurotransmitter deficiency
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:79219	"" []	578379	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Metabolic disease involving other neurotransmitter deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79219	"" []	1161893	\N	\N	EFO	3	EFO	genetic disorder	Metabolic disease involving other neurotransmitter deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79219	"" []	1161894	\N	\N	EFO	3	EFO	metabolic disease	Metabolic disease involving other neurotransmitter deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79219	"" []	2045437	\N	\N	EFO	4	EFO	disease	Metabolic disease involving other neurotransmitter deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79219	"" []	2045438	\N	\N	EFO	4	EFO	disease	Metabolic disease involving other neurotransmitter deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79219	"" []	3195506	\N	\N	EFO	5	EFO	disposition	Metabolic disease involving other neurotransmitter deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79219	"" []	4401323	\N	\N	EFO	6	EFO	material property	Metabolic disease involving other neurotransmitter deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79219	"" []	5417720	\N	\N	EFO	7	EFO	experimental factor	Metabolic disease involving other neurotransmitter deficiency
Orphanet:79224	\N	\N	"" []	Orphanet:79224	"" []	77934	\N	\N	EFO	0	EFO	Disorder of purine or pyrimidine metabolism	Disorder of purine or pyrimidine metabolism
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:79224	"" []	222301	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Disorder of purine or pyrimidine metabolism
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79224	"" []	578380	\N	\N	EFO	2	EFO	genetic disorder	Disorder of purine or pyrimidine metabolism
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79224	"" []	578381	\N	\N	EFO	2	EFO	metabolic disease	Disorder of purine or pyrimidine metabolism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79224	"" []	1161895	\N	\N	EFO	3	EFO	disease	Disorder of purine or pyrimidine metabolism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79224	"" []	1161896	\N	\N	EFO	3	EFO	disease	Disorder of purine or pyrimidine metabolism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79224	"" []	2045439	\N	\N	EFO	4	EFO	disposition	Disorder of purine or pyrimidine metabolism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79224	"" []	3195507	\N	\N	EFO	5	EFO	material property	Disorder of purine or pyrimidine metabolism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79224	"" []	4401324	\N	\N	EFO	6	EFO	experimental factor	Disorder of purine or pyrimidine metabolism
Orphanet:79225	\N	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:79225	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	77935	\N	\N	EFO	0	EFO	Sphingolipidosis	Sphingolipidosis
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:79225	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	222302	\N	\N	EFO	1	EFO	Lysosomal disease	Sphingolipidosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79225	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	578382	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Sphingolipidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79225	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	1161897	\N	\N	EFO	3	EFO	genetic disorder	Sphingolipidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79225	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	1161898	\N	\N	EFO	3	EFO	metabolic disease	Sphingolipidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79225	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	2045440	\N	\N	EFO	4	EFO	disease	Sphingolipidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79225	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	2045441	\N	\N	EFO	4	EFO	disease	Sphingolipidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79225	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	3195508	\N	\N	EFO	5	EFO	disposition	Sphingolipidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79225	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	4401325	\N	\N	EFO	6	EFO	material property	Sphingolipidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79225	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	5417721	\N	\N	EFO	7	EFO	experimental factor	Sphingolipidosis
Orphanet:79226	\N	\N	"" []	Orphanet:79226	"" []	77936	\N	\N	EFO	0	EFO	Sterol metabolism disorder	Sterol metabolism disorder
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:79226	"" []	222303	\N	\N	EFO	1	EFO	Disorder of lipid metabolism	Sterol metabolism disorder
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:79226	"" []	578383	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Sterol metabolism disorder
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79226	"" []	1161899	\N	\N	EFO	3	EFO	genetic disorder	Sterol metabolism disorder
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79226	"" []	1161900	\N	\N	EFO	3	EFO	metabolic disease	Sterol metabolism disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79226	"" []	2045442	\N	\N	EFO	4	EFO	disease	Sterol metabolism disorder
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79226	"" []	2045443	\N	\N	EFO	4	EFO	disease	Sterol metabolism disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79226	"" []	3195509	\N	\N	EFO	5	EFO	disposition	Sterol metabolism disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79226	"" []	4401326	\N	\N	EFO	6	EFO	material property	Sterol metabolism disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79226	"" []	5417722	\N	\N	EFO	7	EFO	experimental factor	Sterol metabolism disorder
Orphanet:79230	\N	\N	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	77937	\N	\N	EFO	0	EFO	Hemochromatosis type 2	Hemochromatosis type 2
Orphanet:220489	Orphanet:79230	\N	"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	222304	\N	\N	EFO	1	EFO	Rare hereditary hemochromatosis	Hemochromatosis type 2
Orphanet:101940	Orphanet:220489	\N	"" []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	578384	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Hemochromatosis type 2
Orphanet:309842	Orphanet:220489	\N	"" []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	578385	\N	\N	EFO	2	EFO	Disorder of iron metabolism and transport	Hemochromatosis type 2
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	1161901	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Hemochromatosis type 2
Orphanet:309836	Orphanet:309842	\N	"" []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	1161902	\N	\N	EFO	3	EFO	Disorder of mineral absorption and transport	Hemochromatosis type 2
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	2045444	\N	\N	EFO	4	EFO	digestive system disease	Hemochromatosis type 2
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	2045445	\N	\N	EFO	4	EFO	genetic disorder	Hemochromatosis type 2
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	2045446	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Hemochromatosis type 2
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	3195510	\N	\N	EFO	5	EFO	disease	Hemochromatosis type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	5417724	\N	\N	EFO	7	EFO	disease	Hemochromatosis type 2
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	3195512	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Hemochromatosis type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	5877690	\N	\N	EFO	8	EFO	disposition	Hemochromatosis type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	4401328	\N	\N	EFO	6	EFO	genetic disorder	Hemochromatosis type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	4401329	\N	\N	EFO	6	EFO	metabolic disease	Hemochromatosis type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	6470919	\N	\N	EFO	9	EFO	material property	Hemochromatosis type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	5417725	\N	\N	EFO	7	EFO	disease	Hemochromatosis type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79230	"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." []	6848770	\N	\N	EFO	10	EFO	experimental factor	Hemochromatosis type 2
Orphanet:79233	\N	\N	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	77938	\N	\N	EFO	0	EFO	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:206428	Orphanet:79233	\N	"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	222305	\N	\N	EFO	1	EFO	Hypoxanthine-guanine phosphoribosyltransferase deficiency	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:182076	Orphanet:206428	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	578386	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:68385	Orphanet:206428	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	578387	\N	\N	EFO	2	EFO	Neurometabolic disease	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:79191	Orphanet:206428	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	578388	\N	\N	EFO	2	EFO	Disorder of purine metabolism	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:93593	Orphanet:206428	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	578389	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:98415	Orphanet:206428	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	578390	\N	\N	EFO	2	EFO	Vitamin B12- and folate-independent constitutional megaloblastic anemia	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	1161903	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	1161904	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	1161905	\N	\N	EFO	3	EFO	Disorder of purine or pyrimidine metabolism	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	1161906	\N	\N	EFO	3	EFO	Rare genetic renal disease	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:248296	Orphanet:98415	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	1161907	\N	\N	EFO	3	EFO	Constitutional deficiency anemia	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	2045447	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	5417726	\N	\N	EFO	7	EFO	genetic disorder	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	2045449	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	2045450	\N	\N	EFO	4	EFO	genetic disorder	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	2045451	\N	\N	EFO	4	EFO	Rare constitutional anemia	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	3195513	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	5817853	\N	\N	EFO	8	EFO	disease	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	3195515	\N	\N	EFO	5	EFO	genetic disorder	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	3195516	\N	\N	EFO	5	EFO	metabolic disease	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	3195517	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	4401330	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	6410333	\N	\N	EFO	9	EFO	disposition	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	4401333	\N	\N	EFO	6	EFO	disease	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	4401334	\N	\N	EFO	6	EFO	genetic disorder	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	4401335	\N	\N	EFO	6	EFO	hematological system disease	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	6808152	\N	\N	EFO	10	EFO	material property	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	5417729	\N	\N	EFO	7	EFO	disease	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79233	"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." []	7048791	\N	\N	EFO	11	EFO	experimental factor	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Orphanet:79234	\N	\N	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	77939	\N	\N	EFO	0	EFO	Crigler-Najjar syndrome type 1	Crigler-Najjar syndrome type 1
Orphanet:205	Orphanet:79234	\N	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	222306	\N	\N	EFO	1	EFO	Crigler-Najjar syndrome	Crigler-Najjar syndrome type 1
Orphanet:101940	Orphanet:205	\N	"" []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	578391	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Crigler-Najjar syndrome type 1
Orphanet:309816	Orphanet:205	\N	"" []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	578392	\N	\N	EFO	2	EFO	Disorder of bilirubin metabolism and excretion	Crigler-Najjar syndrome type 1
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	1161908	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Crigler-Najjar syndrome type 1
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	1161909	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Crigler-Najjar syndrome type 1
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	2045452	\N	\N	EFO	4	EFO	digestive system disease	Crigler-Najjar syndrome type 1
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	2045453	\N	\N	EFO	4	EFO	genetic disorder	Crigler-Najjar syndrome type 1
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	2045454	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Crigler-Najjar syndrome type 1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	3195518	\N	\N	EFO	5	EFO	disease	Crigler-Najjar syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	4401337	\N	\N	EFO	6	EFO	disease	Crigler-Najjar syndrome type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	3195520	\N	\N	EFO	5	EFO	genetic disorder	Crigler-Najjar syndrome type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	3195521	\N	\N	EFO	5	EFO	metabolic disease	Crigler-Najjar syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	5183280	\N	\N	EFO	7	EFO	disposition	Crigler-Najjar syndrome type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	4401338	\N	\N	EFO	6	EFO	disease	Crigler-Najjar syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	5998616	\N	\N	EFO	8	EFO	material property	Crigler-Najjar syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79234	"Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." []	6551680	\N	\N	EFO	9	EFO	experimental factor	Crigler-Najjar syndrome type 1
Orphanet:79235	\N	\N	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	77940	\N	\N	EFO	0	EFO	Crigler-Najjar syndrome type 2	Crigler-Najjar syndrome type 2
Orphanet:205	Orphanet:79235	\N	"Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	222307	\N	\N	EFO	1	EFO	Crigler-Najjar syndrome	Crigler-Najjar syndrome type 2
Orphanet:101940	Orphanet:205	\N	"" []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	578393	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Crigler-Najjar syndrome type 2
Orphanet:309816	Orphanet:205	\N	"" []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	578394	\N	\N	EFO	2	EFO	Disorder of bilirubin metabolism and excretion	Crigler-Najjar syndrome type 2
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	1161910	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Crigler-Najjar syndrome type 2
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	1161911	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Crigler-Najjar syndrome type 2
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	2045455	\N	\N	EFO	4	EFO	digestive system disease	Crigler-Najjar syndrome type 2
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	2045456	\N	\N	EFO	4	EFO	genetic disorder	Crigler-Najjar syndrome type 2
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	2045457	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Crigler-Najjar syndrome type 2
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	3195522	\N	\N	EFO	5	EFO	disease	Crigler-Najjar syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	4401340	\N	\N	EFO	6	EFO	disease	Crigler-Najjar syndrome type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	3195524	\N	\N	EFO	5	EFO	genetic disorder	Crigler-Najjar syndrome type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	3195525	\N	\N	EFO	5	EFO	metabolic disease	Crigler-Najjar syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	5183281	\N	\N	EFO	7	EFO	disposition	Crigler-Najjar syndrome type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	4401341	\N	\N	EFO	6	EFO	disease	Crigler-Najjar syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	5998617	\N	\N	EFO	8	EFO	material property	Crigler-Najjar syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79235	"Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." []	6551681	\N	\N	EFO	9	EFO	experimental factor	Crigler-Najjar syndrome type 2
Orphanet:79237	\N	\N	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	77941	\N	\N	EFO	0	EFO	Galactokinase deficiency	Galactokinase deficiency
Orphanet:352	Orphanet:79237	\N	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	222308	\N	\N	EFO	1	EFO	Galactosemia	Galactokinase deficiency
Orphanet:101940	Orphanet:352	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	578395	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Galactokinase deficiency
Orphanet:308467	Orphanet:352	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	578396	\N	\N	EFO	2	EFO	Disorder of galactose metabolism	Galactokinase deficiency
Orphanet:93593	Orphanet:352	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	578397	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Galactokinase deficiency
Orphanet:98644	Orphanet:352	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	578398	\N	\N	EFO	2	EFO	Cataract associated with a metabolic disease	Galactokinase deficiency
Orphanet:98712	Orphanet:352	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	578399	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Galactokinase deficiency
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	1161912	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Galactokinase deficiency
Orphanet:79161	Orphanet:308467	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	1161913	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Galactokinase deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	1161914	\N	\N	EFO	3	EFO	Rare genetic renal disease	Galactokinase deficiency
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	1161915	\N	\N	EFO	3	EFO	Systemic disease with cataract	Galactokinase deficiency
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	1161916	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Galactokinase deficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	2045458	\N	\N	EFO	4	EFO	digestive system disease	Galactokinase deficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	2045459	\N	\N	EFO	4	EFO	genetic disorder	Galactokinase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	2045460	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Galactokinase deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	2045461	\N	\N	EFO	4	EFO	genetic disorder	Galactokinase deficiency
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	2045462	\N	\N	EFO	4	EFO	Syndromic cataract	Galactokinase deficiency
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	2045463	\N	\N	EFO	4	EFO	Rare genetic eye disease	Galactokinase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	3195526	\N	\N	EFO	5	EFO	disease	Galactokinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	6410334	\N	\N	EFO	9	EFO	disease	Galactokinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	3195528	\N	\N	EFO	5	EFO	genetic disorder	Galactokinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	3195529	\N	\N	EFO	5	EFO	metabolic disease	Galactokinase deficiency
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	3195530	\N	\N	EFO	5	EFO	Rare cataract	Galactokinase deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	6152606	\N	\N	EFO	8	EFO	genetic disorder	Galactokinase deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	6152607	\N	\N	EFO	8	EFO	eye disease	Galactokinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	6778818	\N	\N	EFO	10	EFO	disposition	Galactokinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	4401344	\N	\N	EFO	6	EFO	disease	Galactokinase deficiency
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	4401345	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Galactokinase deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	6410335	\N	\N	EFO	9	EFO	disease	Galactokinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	7030010	\N	\N	EFO	11	EFO	material property	Galactokinase deficiency
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	5417733	\N	\N	EFO	7	EFO	Rare genetic eye disease	Galactokinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79237	"Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." []	7181821	\N	\N	EFO	12	EFO	experimental factor	Galactokinase deficiency
Orphanet:79238	\N	\N	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	77942	\N	\N	EFO	0	EFO	Galactose epimerase deficiency	Galactose epimerase deficiency
Orphanet:352	Orphanet:79238	\N	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	222309	\N	\N	EFO	1	EFO	Galactosemia	Galactose epimerase deficiency
Orphanet:101940	Orphanet:352	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	578400	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Galactose epimerase deficiency
Orphanet:308467	Orphanet:352	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	578401	\N	\N	EFO	2	EFO	Disorder of galactose metabolism	Galactose epimerase deficiency
Orphanet:93593	Orphanet:352	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	578402	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Galactose epimerase deficiency
Orphanet:98644	Orphanet:352	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	578403	\N	\N	EFO	2	EFO	Cataract associated with a metabolic disease	Galactose epimerase deficiency
Orphanet:98712	Orphanet:352	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	578404	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Galactose epimerase deficiency
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	1161917	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Galactose epimerase deficiency
Orphanet:79161	Orphanet:308467	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	1161918	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Galactose epimerase deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	1161919	\N	\N	EFO	3	EFO	Rare genetic renal disease	Galactose epimerase deficiency
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	1161920	\N	\N	EFO	3	EFO	Systemic disease with cataract	Galactose epimerase deficiency
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	1161921	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Galactose epimerase deficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	2045464	\N	\N	EFO	4	EFO	digestive system disease	Galactose epimerase deficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	2045465	\N	\N	EFO	4	EFO	genetic disorder	Galactose epimerase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	2045466	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Galactose epimerase deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	2045467	\N	\N	EFO	4	EFO	genetic disorder	Galactose epimerase deficiency
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	2045468	\N	\N	EFO	4	EFO	Syndromic cataract	Galactose epimerase deficiency
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	2045469	\N	\N	EFO	4	EFO	Rare genetic eye disease	Galactose epimerase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	3195533	\N	\N	EFO	5	EFO	disease	Galactose epimerase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	6410336	\N	\N	EFO	9	EFO	disease	Galactose epimerase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	3195535	\N	\N	EFO	5	EFO	genetic disorder	Galactose epimerase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	3195536	\N	\N	EFO	5	EFO	metabolic disease	Galactose epimerase deficiency
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	3195537	\N	\N	EFO	5	EFO	Rare cataract	Galactose epimerase deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	6152609	\N	\N	EFO	8	EFO	genetic disorder	Galactose epimerase deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	6152610	\N	\N	EFO	8	EFO	eye disease	Galactose epimerase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	6778819	\N	\N	EFO	10	EFO	disposition	Galactose epimerase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	4401349	\N	\N	EFO	6	EFO	disease	Galactose epimerase deficiency
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	4401350	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Galactose epimerase deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	6410337	\N	\N	EFO	9	EFO	disease	Galactose epimerase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	7030011	\N	\N	EFO	11	EFO	material property	Galactose epimerase deficiency
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	5417735	\N	\N	EFO	7	EFO	Rare genetic eye disease	Galactose epimerase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79238	"Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." []	7181822	\N	\N	EFO	12	EFO	experimental factor	Galactose epimerase deficiency
Orphanet:79239	\N	\N	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	77943	\N	\N	EFO	0	EFO	Classic galactosemia	Classic galactosemia
Orphanet:352	Orphanet:79239	\N	"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	222310	\N	\N	EFO	1	EFO	Galactosemia	Classic galactosemia
Orphanet:400022	Orphanet:79239	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	222311	\N	\N	EFO	1	EFO	Rare female infertility due to an anomaly of ovarian function of genetic origin	Classic galactosemia
Orphanet:95710	Orphanet:79239	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	222312	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	Classic galactosemia
Orphanet:101940	Orphanet:352	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	578405	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Classic galactosemia
Orphanet:308467	Orphanet:352	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	578406	\N	\N	EFO	2	EFO	Disorder of galactose metabolism	Classic galactosemia
Orphanet:93593	Orphanet:352	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	578407	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Classic galactosemia
Orphanet:98644	Orphanet:352	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	578408	\N	\N	EFO	2	EFO	Cataract associated with a metabolic disease	Classic galactosemia
Orphanet:98712	Orphanet:352	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	578409	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Classic galactosemia
EFO:0005771	Orphanet:400022	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	578410	\N	\N	EFO	2	EFO	ovarian disease	Classic galactosemia
Orphanet:400011	Orphanet:400022	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	578411	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Classic galactosemia
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	578412	\N	\N	EFO	2	EFO	ovarian disease	Classic galactosemia
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	578413	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Classic galactosemia
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	578414	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Classic galactosemia
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	1161922	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Classic galactosemia
Orphanet:79161	Orphanet:308467	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	1161923	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Classic galactosemia
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	1161924	\N	\N	EFO	3	EFO	Rare genetic renal disease	Classic galactosemia
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	1161925	\N	\N	EFO	3	EFO	Systemic disease with cataract	Classic galactosemia
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	1161926	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Classic galactosemia
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	1161927	\N	\N	EFO	3	EFO	reproductive system disease	Classic galactosemia
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	1161928	\N	\N	EFO	3	EFO	Rare genetic female infertility	Classic galactosemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	1161929	\N	\N	EFO	3	EFO	genetic disorder	Classic galactosemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	1161930	\N	\N	EFO	3	EFO	endocrine system disease	Classic galactosemia
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	1161931	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Classic galactosemia
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	2045470	\N	\N	EFO	4	EFO	digestive system disease	Classic galactosemia
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	2045471	\N	\N	EFO	4	EFO	genetic disorder	Classic galactosemia
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	2045472	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Classic galactosemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	2045473	\N	\N	EFO	4	EFO	genetic disorder	Classic galactosemia
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	2045474	\N	\N	EFO	4	EFO	Syndromic cataract	Classic galactosemia
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	2045475	\N	\N	EFO	4	EFO	Rare genetic eye disease	Classic galactosemia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	4401357	\N	\N	EFO	6	EFO	disease	Classic galactosemia
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	2045477	\N	\N	EFO	4	EFO	Genetic infertility	Classic galactosemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	6410338	\N	\N	EFO	9	EFO	disease	Classic galactosemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	2045479	\N	\N	EFO	4	EFO	disease	Classic galactosemia
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	2045480	\N	\N	EFO	4	EFO	genetic disorder	Classic galactosemia
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	2045481	\N	\N	EFO	4	EFO	reproductive system disease	Classic galactosemia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	3195540	\N	\N	EFO	5	EFO	disease	Classic galactosemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	3195542	\N	\N	EFO	5	EFO	genetic disorder	Classic galactosemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	3195543	\N	\N	EFO	5	EFO	metabolic disease	Classic galactosemia
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	3195544	\N	\N	EFO	5	EFO	Rare cataract	Classic galactosemia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	6152611	\N	\N	EFO	8	EFO	genetic disorder	Classic galactosemia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	6152612	\N	\N	EFO	8	EFO	eye disease	Classic galactosemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	6762401	\N	\N	EFO	10	EFO	disposition	Classic galactosemia
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	3195548	\N	\N	EFO	5	EFO	genetic disorder	Classic galactosemia
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	3195549	\N	\N	EFO	5	EFO	reproductive system disease	Classic galactosemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	4401353	\N	\N	EFO	6	EFO	disease	Classic galactosemia
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	4401354	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Classic galactosemia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	6410339	\N	\N	EFO	9	EFO	disease	Classic galactosemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	7015714	\N	\N	EFO	11	EFO	material property	Classic galactosemia
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	5417736	\N	\N	EFO	7	EFO	Rare genetic eye disease	Classic galactosemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79239	"Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." []	7173660	\N	\N	EFO	12	EFO	experimental factor	Classic galactosemia
Orphanet:79240	\N	\N	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	77944	\N	\N	EFO	0	EFO	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:101940	Orphanet:79240	\N	"" []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	222313	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:206959	Orphanet:79240	\N	"" []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	222314	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:370	Orphanet:79240	\N	"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	222315	\N	\N	EFO	1	EFO	Glycogen storage disease due to phosphorylase kinase deficiency	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	578415	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	578416	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:79201	Orphanet:370	\N	"" []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	578417	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	1161932	\N	\N	EFO	3	EFO	digestive system disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	1161933	\N	\N	EFO	3	EFO	genetic disorder	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	1161934	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	1161935	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	2045482	\N	\N	EFO	4	EFO	disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	6152614	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	2045484	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	2045485	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	6378987	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	3195552	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	3195553	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	3195554	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	6778820	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	4401359	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	4401360	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	4401362	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	7030012	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	5417739	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	5417740	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79240	"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." []	6152613	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Orphanet:79241	\N	\N	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	77945	\N	\N	EFO	0	EFO	Biotinidase deficiency	Biotinidase deficiency
EFO:0005596	Orphanet:79241	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	222316	\N	\N	EFO	1	EFO	vitamin metabolic disorder	Biotinidase deficiency
Orphanet:148	Orphanet:79241	\N	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	222317	\N	\N	EFO	1	EFO	Multiple carboxylase deficiency	Biotinidase deficiency
Orphanet:207018	Orphanet:79241	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	222318	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Biotinidase deficiency
Orphanet:309833	Orphanet:79241	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	222319	\N	\N	EFO	1	EFO	Disorder of other vitamins and cofactors metabolism and transport	Biotinidase deficiency
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	578418	\N	\N	EFO	2	EFO	metabolic disease	Biotinidase deficiency
Orphanet:79163	Orphanet:148	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	578419	\N	\N	EFO	2	EFO	Classic organic aciduria	Biotinidase deficiency
Orphanet:79387	Orphanet:148	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	578420	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Biotinidase deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	578421	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Biotinidase deficiency
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	578422	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Biotinidase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	5183286	\N	\N	EFO	7	EFO	disease	Biotinidase deficiency
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	1161937	\N	\N	EFO	3	EFO	Organic aciduria	Biotinidase deficiency
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	1161938	\N	\N	EFO	3	EFO	Rare genetic skin disease	Biotinidase deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	1161939	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Biotinidase deficiency
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	1161940	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Biotinidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	5801888	\N	\N	EFO	8	EFO	disposition	Biotinidase deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	2045487	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Biotinidase deficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	2045488	\N	\N	EFO	4	EFO	genetic disorder	Biotinidase deficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	2045489	\N	\N	EFO	4	EFO	skin disease	Biotinidase deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	2045490	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Biotinidase deficiency
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	2045491	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Biotinidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	6378988	\N	\N	EFO	9	EFO	material property	Biotinidase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	3195556	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Biotinidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	5183285	\N	\N	EFO	7	EFO	disease	Biotinidase deficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	3195558	\N	\N	EFO	5	EFO	disease	Biotinidase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	3195559	\N	\N	EFO	5	EFO	genetic disorder	Biotinidase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	4401364	\N	\N	EFO	6	EFO	genetic disorder	Biotinidase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	4401365	\N	\N	EFO	6	EFO	metabolic disease	Biotinidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79241	"Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." []	6778821	\N	\N	EFO	10	EFO	experimental factor	Biotinidase deficiency
Orphanet:79242	\N	\N	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	77946	\N	\N	EFO	0	EFO	Holocarboxylase synthetase deficiency	Holocarboxylase synthetase deficiency
Orphanet:148	Orphanet:79242	\N	"Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	222320	\N	\N	EFO	1	EFO	Multiple carboxylase deficiency	Holocarboxylase synthetase deficiency
Orphanet:79163	Orphanet:148	\N	"" []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	578423	\N	\N	EFO	2	EFO	Classic organic aciduria	Holocarboxylase synthetase deficiency
Orphanet:79387	Orphanet:148	\N	"" []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	578424	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Holocarboxylase synthetase deficiency
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	1161941	\N	\N	EFO	3	EFO	Organic aciduria	Holocarboxylase synthetase deficiency
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	1161942	\N	\N	EFO	3	EFO	Rare genetic skin disease	Holocarboxylase synthetase deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	2045492	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Holocarboxylase synthetase deficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	2045493	\N	\N	EFO	4	EFO	genetic disorder	Holocarboxylase synthetase deficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	2045494	\N	\N	EFO	4	EFO	skin disease	Holocarboxylase synthetase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	3195562	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Holocarboxylase synthetase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	5417741	\N	\N	EFO	7	EFO	disease	Holocarboxylase synthetase deficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	3195564	\N	\N	EFO	5	EFO	disease	Holocarboxylase synthetase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	4401369	\N	\N	EFO	6	EFO	genetic disorder	Holocarboxylase synthetase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	4401370	\N	\N	EFO	6	EFO	metabolic disease	Holocarboxylase synthetase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	5877695	\N	\N	EFO	8	EFO	disposition	Holocarboxylase synthetase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	5417742	\N	\N	EFO	7	EFO	disease	Holocarboxylase synthetase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	6470923	\N	\N	EFO	9	EFO	material property	Holocarboxylase synthetase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79242	"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." []	6848772	\N	\N	EFO	10	EFO	experimental factor	Holocarboxylase synthetase deficiency
Orphanet:79243	\N	\N	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	77947	\N	\N	EFO	0	EFO	Pyruvate dehydrogenase E1-alpha deficiency	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:765	Orphanet:79243	\N	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	222321	\N	\N	EFO	1	EFO	Pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:182076	Orphanet:765	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	578425	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:225703	Orphanet:765	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	578426	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:254746	Orphanet:765	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	578427	\N	\N	EFO	2	EFO	Pyruvate metabolism disorder	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:68380	Orphanet:765	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	578428	\N	\N	EFO	2	EFO	Mitochondrial disease	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	1161943	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	1161944	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:79200	Orphanet:254746	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	1161945	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	1161946	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	1161947	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	2045495	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	2045496	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	2045497	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	2045498	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	3195565	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	3195566	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Pyruvate dehydrogenase E1-alpha deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	3195567	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate dehydrogenase E1-alpha deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	3195568	\N	\N	EFO	5	EFO	metabolic disease	Pyruvate dehydrogenase E1-alpha deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	3195569	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	4401372	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	4401373	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase E1-alpha deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	6152616	\N	\N	EFO	8	EFO	disease	Pyruvate dehydrogenase E1-alpha deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	4401375	\N	\N	EFO	6	EFO	disease	Pyruvate dehydrogenase E1-alpha deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	5417744	\N	\N	EFO	7	EFO	genetic disorder	Pyruvate dehydrogenase E1-alpha deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	6470924	\N	\N	EFO	9	EFO	disposition	Pyruvate dehydrogenase E1-alpha deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	6848773	\N	\N	EFO	10	EFO	material property	Pyruvate dehydrogenase E1-alpha deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79243	"Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." []	7068529	\N	\N	EFO	11	EFO	experimental factor	Pyruvate dehydrogenase E1-alpha deficiency
Orphanet:79244	\N	\N	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	77948	\N	\N	EFO	0	EFO	Pyruvate dehydrogenase E2 deficiency	Pyruvate dehydrogenase E2 deficiency
Orphanet:765	Orphanet:79244	\N	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	222322	\N	\N	EFO	1	EFO	Pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase E2 deficiency
Orphanet:182076	Orphanet:765	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	578429	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Pyruvate dehydrogenase E2 deficiency
Orphanet:225703	Orphanet:765	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	578430	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Pyruvate dehydrogenase E2 deficiency
Orphanet:254746	Orphanet:765	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	578431	\N	\N	EFO	2	EFO	Pyruvate metabolism disorder	Pyruvate dehydrogenase E2 deficiency
Orphanet:68380	Orphanet:765	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	578432	\N	\N	EFO	2	EFO	Mitochondrial disease	Pyruvate dehydrogenase E2 deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	1161948	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Pyruvate dehydrogenase E2 deficiency
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	1161949	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Pyruvate dehydrogenase E2 deficiency
Orphanet:79200	Orphanet:254746	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	1161950	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase E2 deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	1161951	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Pyruvate dehydrogenase E2 deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	1161952	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase E2 deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	2045499	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Pyruvate dehydrogenase E2 deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	2045500	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Pyruvate dehydrogenase E2 deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	2045501	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Pyruvate dehydrogenase E2 deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	2045502	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pyruvate dehydrogenase E2 deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	3195570	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Pyruvate dehydrogenase E2 deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	3195571	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Pyruvate dehydrogenase E2 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	3195572	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate dehydrogenase E2 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	3195573	\N	\N	EFO	5	EFO	metabolic disease	Pyruvate dehydrogenase E2 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	3195574	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate dehydrogenase E2 deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	4401376	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase E2 deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	4401377	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase E2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	6152618	\N	\N	EFO	8	EFO	disease	Pyruvate dehydrogenase E2 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	4401379	\N	\N	EFO	6	EFO	disease	Pyruvate dehydrogenase E2 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	5417746	\N	\N	EFO	7	EFO	genetic disorder	Pyruvate dehydrogenase E2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	6470925	\N	\N	EFO	9	EFO	disposition	Pyruvate dehydrogenase E2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	6848774	\N	\N	EFO	10	EFO	material property	Pyruvate dehydrogenase E2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79244	"Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." []	7068530	\N	\N	EFO	11	EFO	experimental factor	Pyruvate dehydrogenase E2 deficiency
Orphanet:79246	\N	\N	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	77949	\N	\N	EFO	0	EFO	Pyruvate dehydrogenase phosphatase deficiency	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:765	Orphanet:79246	\N	"Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	222323	\N	\N	EFO	1	EFO	Pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:182076	Orphanet:765	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	578433	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with X-linked intellectual disability	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:225703	Orphanet:765	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	578434	\N	\N	EFO	2	EFO	Mitochondrial disease with peripheral neuropathy	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:254746	Orphanet:765	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	578435	\N	\N	EFO	2	EFO	Pyruvate metabolism disorder	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:68380	Orphanet:765	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	578436	\N	\N	EFO	2	EFO	Mitochondrial disease	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:98464	Orphanet:182076	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	1161953	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	1161954	\N	\N	EFO	3	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:79200	Orphanet:254746	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	1161955	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	1161956	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	1161957	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	2045503	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	2045504	\N	\N	EFO	4	EFO	Rare hereditary disease with peripheral neuropathy	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	2045505	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	2045506	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	3195575	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	3195576	\N	\N	EFO	5	EFO	Genetic peripheral neuropathy	Pyruvate dehydrogenase phosphatase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	3195577	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate dehydrogenase phosphatase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	3195578	\N	\N	EFO	5	EFO	metabolic disease	Pyruvate dehydrogenase phosphatase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	3195579	\N	\N	EFO	5	EFO	genetic disorder	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	4401380	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	4401381	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Pyruvate dehydrogenase phosphatase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	6152620	\N	\N	EFO	8	EFO	disease	Pyruvate dehydrogenase phosphatase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	4401383	\N	\N	EFO	6	EFO	disease	Pyruvate dehydrogenase phosphatase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	5417748	\N	\N	EFO	7	EFO	genetic disorder	Pyruvate dehydrogenase phosphatase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	6470926	\N	\N	EFO	9	EFO	disposition	Pyruvate dehydrogenase phosphatase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	6848775	\N	\N	EFO	10	EFO	material property	Pyruvate dehydrogenase phosphatase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79246	"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." []	7068531	\N	\N	EFO	11	EFO	experimental factor	Pyruvate dehydrogenase phosphatase deficiency
Orphanet:79253	\N	\N	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	77950	\N	\N	EFO	0	EFO	Mild phenylketonuria	Mild phenylketonuria
Orphanet:716	Orphanet:79253	\N	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	222324	\N	\N	EFO	1	EFO	Phenylketonuria	Mild phenylketonuria
Orphanet:284814	Orphanet:716	\N	"" []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	578437	\N	\N	EFO	2	EFO	Disorder of phenylalanine metabolism	Mild phenylketonuria
Orphanet:68385	Orphanet:716	\N	"" []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	578438	\N	\N	EFO	2	EFO	Neurometabolic disease	Mild phenylketonuria
Orphanet:79190	Orphanet:284814	\N	"" []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	1161958	\N	\N	EFO	3	EFO	Disorder of phenylalanin or tyrosine metabolism	Mild phenylketonuria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	1161959	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Mild phenylketonuria
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	2045507	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Mild phenylketonuria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	2045508	\N	\N	EFO	4	EFO	genetic disorder	Mild phenylketonuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	3195580	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Mild phenylketonuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	5417750	\N	\N	EFO	7	EFO	disease	Mild phenylketonuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	4401384	\N	\N	EFO	6	EFO	genetic disorder	Mild phenylketonuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	4401385	\N	\N	EFO	6	EFO	metabolic disease	Mild phenylketonuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	5877696	\N	\N	EFO	8	EFO	disposition	Mild phenylketonuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	5417751	\N	\N	EFO	7	EFO	disease	Mild phenylketonuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	6470927	\N	\N	EFO	9	EFO	material property	Mild phenylketonuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79253	"Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." []	6848776	\N	\N	EFO	10	EFO	experimental factor	Mild phenylketonuria
Orphanet:79254	\N	\N	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	77951	\N	\N	EFO	0	EFO	Classical phenylketonuria	Classical phenylketonuria
Orphanet:716	Orphanet:79254	\N	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	222325	\N	\N	EFO	1	EFO	Phenylketonuria	Classical phenylketonuria
Orphanet:284814	Orphanet:716	\N	"" []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	578439	\N	\N	EFO	2	EFO	Disorder of phenylalanine metabolism	Classical phenylketonuria
Orphanet:68385	Orphanet:716	\N	"" []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	578440	\N	\N	EFO	2	EFO	Neurometabolic disease	Classical phenylketonuria
Orphanet:79190	Orphanet:284814	\N	"" []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	1161960	\N	\N	EFO	3	EFO	Disorder of phenylalanin or tyrosine metabolism	Classical phenylketonuria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	1161961	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Classical phenylketonuria
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	2045509	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Classical phenylketonuria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	2045510	\N	\N	EFO	4	EFO	genetic disorder	Classical phenylketonuria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	3195582	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Classical phenylketonuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	5417753	\N	\N	EFO	7	EFO	disease	Classical phenylketonuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	4401387	\N	\N	EFO	6	EFO	genetic disorder	Classical phenylketonuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	4401388	\N	\N	EFO	6	EFO	metabolic disease	Classical phenylketonuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	5877697	\N	\N	EFO	8	EFO	disposition	Classical phenylketonuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	5417754	\N	\N	EFO	7	EFO	disease	Classical phenylketonuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	6470928	\N	\N	EFO	9	EFO	material property	Classical phenylketonuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79254	"Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." []	6848777	\N	\N	EFO	10	EFO	experimental factor	Classical phenylketonuria
Orphanet:79255	\N	\N	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	77952	\N	\N	EFO	0	EFO	GM1 gangliosidosis type 1	GM1 gangliosidosis type 1
Orphanet:354	Orphanet:79255	\N	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	222326	\N	\N	EFO	1	EFO	GM1 gangliosidosis	GM1 gangliosidosis type 1
Orphanet:309144	Orphanet:354	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	578441	\N	\N	EFO	2	EFO	Gangliosidosis	GM1 gangliosidosis type 1
Orphanet:68385	Orphanet:354	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	578442	\N	\N	EFO	2	EFO	Neurometabolic disease	GM1 gangliosidosis type 1
Orphanet:93448	Orphanet:354	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	578443	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	GM1 gangliosidosis type 1
Orphanet:98666	Orphanet:354	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	578444	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	GM1 gangliosidosis type 1
Orphanet:98692	Orphanet:354	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	578445	\N	\N	EFO	2	EFO	Nervous system anomaly with eye involvement	GM1 gangliosidosis type 1
Orphanet:98714	Orphanet:354	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	578446	\N	\N	EFO	2	EFO	Metabolic disease with macular cherry-red spot	GM1 gangliosidosis type 1
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	1161962	\N	\N	EFO	3	EFO	Sphingolipidosis	GM1 gangliosidosis type 1
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	1161963	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	GM1 gangliosidosis type 1
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	1161964	\N	\N	EFO	3	EFO	Rare genetic bone disease	GM1 gangliosidosis type 1
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	1161965	\N	\N	EFO	3	EFO	Genetic macular dystrophy	GM1 gangliosidosis type 1
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	1161966	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	GM1 gangliosidosis type 1
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	1161967	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	GM1 gangliosidosis type 1
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	2045511	\N	\N	EFO	4	EFO	Lysosomal disease	GM1 gangliosidosis type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	2045512	\N	\N	EFO	4	EFO	genetic disorder	GM1 gangliosidosis type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	2045513	\N	\N	EFO	4	EFO	genetic disorder	GM1 gangliosidosis type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	2045514	\N	\N	EFO	4	EFO	bone disease	GM1 gangliosidosis type 1
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	2045515	\N	\N	EFO	4	EFO	Retinal dystrophy	GM1 gangliosidosis type 1
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	2045516	\N	\N	EFO	4	EFO	Rare genetic eye disease	GM1 gangliosidosis type 1
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	2045517	\N	\N	EFO	4	EFO	Rare genetic eye disease	GM1 gangliosidosis type 1
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	3195584	\N	\N	EFO	5	EFO	Inborn errors of metabolism	GM1 gangliosidosis type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	5877699	\N	\N	EFO	8	EFO	disease	GM1 gangliosidosis type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	3195586	\N	\N	EFO	5	EFO	skeletal system disease	GM1 gangliosidosis type 1
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	3195587	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	GM1 gangliosidosis type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	5417759	\N	\N	EFO	7	EFO	genetic disorder	GM1 gangliosidosis type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	5417760	\N	\N	EFO	7	EFO	eye disease	GM1 gangliosidosis type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	4401390	\N	\N	EFO	6	EFO	genetic disorder	GM1 gangliosidosis type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	4401391	\N	\N	EFO	6	EFO	metabolic disease	GM1 gangliosidosis type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	6410341	\N	\N	EFO	9	EFO	disposition	GM1 gangliosidosis type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	4401393	\N	\N	EFO	6	EFO	disease	GM1 gangliosidosis type 1
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	4401394	\N	\N	EFO	6	EFO	Rare genetic eye disease	GM1 gangliosidosis type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	5877700	\N	\N	EFO	8	EFO	disease	GM1 gangliosidosis type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	5417757	\N	\N	EFO	7	EFO	disease	GM1 gangliosidosis type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	6808153	\N	\N	EFO	10	EFO	material property	GM1 gangliosidosis type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79255	"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." []	7048792	\N	\N	EFO	11	EFO	experimental factor	GM1 gangliosidosis type 1
Orphanet:79256	\N	\N	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	77953	\N	\N	EFO	0	EFO	GM1 gangliosidosis type 2	GM1 gangliosidosis type 2
Orphanet:354	Orphanet:79256	\N	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	222327	\N	\N	EFO	1	EFO	GM1 gangliosidosis	GM1 gangliosidosis type 2
Orphanet:309144	Orphanet:354	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	578447	\N	\N	EFO	2	EFO	Gangliosidosis	GM1 gangliosidosis type 2
Orphanet:68385	Orphanet:354	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	578448	\N	\N	EFO	2	EFO	Neurometabolic disease	GM1 gangliosidosis type 2
Orphanet:93448	Orphanet:354	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	578449	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	GM1 gangliosidosis type 2
Orphanet:98666	Orphanet:354	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	578450	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	GM1 gangliosidosis type 2
Orphanet:98692	Orphanet:354	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	578451	\N	\N	EFO	2	EFO	Nervous system anomaly with eye involvement	GM1 gangliosidosis type 2
Orphanet:98714	Orphanet:354	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	578452	\N	\N	EFO	2	EFO	Metabolic disease with macular cherry-red spot	GM1 gangliosidosis type 2
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	1161968	\N	\N	EFO	3	EFO	Sphingolipidosis	GM1 gangliosidosis type 2
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	1161969	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	GM1 gangliosidosis type 2
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	1161970	\N	\N	EFO	3	EFO	Rare genetic bone disease	GM1 gangliosidosis type 2
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	1161971	\N	\N	EFO	3	EFO	Genetic macular dystrophy	GM1 gangliosidosis type 2
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	1161972	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	GM1 gangliosidosis type 2
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	1161973	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	GM1 gangliosidosis type 2
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	2045518	\N	\N	EFO	4	EFO	Lysosomal disease	GM1 gangliosidosis type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	2045519	\N	\N	EFO	4	EFO	genetic disorder	GM1 gangliosidosis type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	2045520	\N	\N	EFO	4	EFO	genetic disorder	GM1 gangliosidosis type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	2045521	\N	\N	EFO	4	EFO	bone disease	GM1 gangliosidosis type 2
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	2045522	\N	\N	EFO	4	EFO	Retinal dystrophy	GM1 gangliosidosis type 2
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	2045523	\N	\N	EFO	4	EFO	Rare genetic eye disease	GM1 gangliosidosis type 2
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	2045524	\N	\N	EFO	4	EFO	Rare genetic eye disease	GM1 gangliosidosis type 2
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	3195590	\N	\N	EFO	5	EFO	Inborn errors of metabolism	GM1 gangliosidosis type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	5877702	\N	\N	EFO	8	EFO	disease	GM1 gangliosidosis type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	3195592	\N	\N	EFO	5	EFO	skeletal system disease	GM1 gangliosidosis type 2
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	3195593	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	GM1 gangliosidosis type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	5417764	\N	\N	EFO	7	EFO	genetic disorder	GM1 gangliosidosis type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	5417765	\N	\N	EFO	7	EFO	eye disease	GM1 gangliosidosis type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	4401397	\N	\N	EFO	6	EFO	genetic disorder	GM1 gangliosidosis type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	4401398	\N	\N	EFO	6	EFO	metabolic disease	GM1 gangliosidosis type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	6410342	\N	\N	EFO	9	EFO	disposition	GM1 gangliosidosis type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	4401400	\N	\N	EFO	6	EFO	disease	GM1 gangliosidosis type 2
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	4401401	\N	\N	EFO	6	EFO	Rare genetic eye disease	GM1 gangliosidosis type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	5877703	\N	\N	EFO	8	EFO	disease	GM1 gangliosidosis type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	5417762	\N	\N	EFO	7	EFO	disease	GM1 gangliosidosis type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	6808154	\N	\N	EFO	10	EFO	material property	GM1 gangliosidosis type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79256	"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." []	7048793	\N	\N	EFO	11	EFO	experimental factor	GM1 gangliosidosis type 2
Orphanet:79257	\N	\N	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	77954	\N	\N	EFO	0	EFO	GM1 gangliosidosis type 3	GM1 gangliosidosis type 3
Orphanet:354	Orphanet:79257	\N	"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	222328	\N	\N	EFO	1	EFO	GM1 gangliosidosis	GM1 gangliosidosis type 3
Orphanet:309144	Orphanet:354	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	578453	\N	\N	EFO	2	EFO	Gangliosidosis	GM1 gangliosidosis type 3
Orphanet:68385	Orphanet:354	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	578454	\N	\N	EFO	2	EFO	Neurometabolic disease	GM1 gangliosidosis type 3
Orphanet:93448	Orphanet:354	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	578455	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	GM1 gangliosidosis type 3
Orphanet:98666	Orphanet:354	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	578456	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	GM1 gangliosidosis type 3
Orphanet:98692	Orphanet:354	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	578457	\N	\N	EFO	2	EFO	Nervous system anomaly with eye involvement	GM1 gangliosidosis type 3
Orphanet:98714	Orphanet:354	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	578458	\N	\N	EFO	2	EFO	Metabolic disease with macular cherry-red spot	GM1 gangliosidosis type 3
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	1161974	\N	\N	EFO	3	EFO	Sphingolipidosis	GM1 gangliosidosis type 3
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	1161975	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	GM1 gangliosidosis type 3
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	1161976	\N	\N	EFO	3	EFO	Rare genetic bone disease	GM1 gangliosidosis type 3
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	1161977	\N	\N	EFO	3	EFO	Genetic macular dystrophy	GM1 gangliosidosis type 3
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	1161978	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	GM1 gangliosidosis type 3
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	1161979	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	GM1 gangliosidosis type 3
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	2045525	\N	\N	EFO	4	EFO	Lysosomal disease	GM1 gangliosidosis type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	2045526	\N	\N	EFO	4	EFO	genetic disorder	GM1 gangliosidosis type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	2045527	\N	\N	EFO	4	EFO	genetic disorder	GM1 gangliosidosis type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	2045528	\N	\N	EFO	4	EFO	bone disease	GM1 gangliosidosis type 3
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	2045529	\N	\N	EFO	4	EFO	Retinal dystrophy	GM1 gangliosidosis type 3
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	2045530	\N	\N	EFO	4	EFO	Rare genetic eye disease	GM1 gangliosidosis type 3
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	2045531	\N	\N	EFO	4	EFO	Rare genetic eye disease	GM1 gangliosidosis type 3
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	3195596	\N	\N	EFO	5	EFO	Inborn errors of metabolism	GM1 gangliosidosis type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	5877705	\N	\N	EFO	8	EFO	disease	GM1 gangliosidosis type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	3195598	\N	\N	EFO	5	EFO	skeletal system disease	GM1 gangliosidosis type 3
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	3195599	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	GM1 gangliosidosis type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	5417769	\N	\N	EFO	7	EFO	genetic disorder	GM1 gangliosidosis type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	5417770	\N	\N	EFO	7	EFO	eye disease	GM1 gangliosidosis type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	4401404	\N	\N	EFO	6	EFO	genetic disorder	GM1 gangliosidosis type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	4401405	\N	\N	EFO	6	EFO	metabolic disease	GM1 gangliosidosis type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	6410343	\N	\N	EFO	9	EFO	disposition	GM1 gangliosidosis type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	4401407	\N	\N	EFO	6	EFO	disease	GM1 gangliosidosis type 3
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	4401408	\N	\N	EFO	6	EFO	Rare genetic eye disease	GM1 gangliosidosis type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	5877706	\N	\N	EFO	8	EFO	disease	GM1 gangliosidosis type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	5417767	\N	\N	EFO	7	EFO	disease	GM1 gangliosidosis type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	6808155	\N	\N	EFO	10	EFO	material property	GM1 gangliosidosis type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79257	"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." []	7048794	\N	\N	EFO	11	EFO	experimental factor	GM1 gangliosidosis type 3
Orphanet:79258	\N	\N	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	77955	\N	\N	EFO	0	EFO	Glycogen storage disease due to glucose-6-phosphatase deficiency type a	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Orphanet:364	Orphanet:79258	\N	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	222329	\N	\N	EFO	1	EFO	Glycogen storage disease due to glucose-6-phosphatase deficiency	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Orphanet:101940	Orphanet:364	\N	"" []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	578459	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Orphanet:79201	Orphanet:364	\N	"" []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	578460	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Orphanet:93593	Orphanet:364	\N	"" []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	578461	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	1161980	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	1161981	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	1161982	\N	\N	EFO	3	EFO	Rare genetic renal disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	2045532	\N	\N	EFO	4	EFO	digestive system disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	2045533	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	2045534	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	2045535	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	3195602	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	4401412	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	3195604	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	3195605	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	5183290	\N	\N	EFO	7	EFO	disposition	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	4401413	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	5998624	\N	\N	EFO	8	EFO	material property	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79258	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." []	6551687	\N	\N	EFO	9	EFO	experimental factor	Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Orphanet:79259	\N	\N	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	77956	\N	\N	EFO	0	EFO	Glycogen storage disease due to glucose-6-phosphatase deficiency type b	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:331184	Orphanet:79259	\N	"" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	222330	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:364	Orphanet:79259	\N	"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	222331	\N	\N	EFO	1	EFO	Glycogen storage disease due to glucose-6-phosphatase deficiency	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	578462	\N	\N	EFO	2	EFO	Constitutional neutropenia	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:101940	Orphanet:364	\N	"" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	578463	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:79201	Orphanet:364	\N	"" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	578464	\N	\N	EFO	2	EFO	Glycogen storage disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:93593	Orphanet:364	\N	"" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	578465	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	1161983	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	1161984	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	1161985	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	1161986	\N	\N	EFO	3	EFO	Rare genetic renal disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	2045536	\N	\N	EFO	4	EFO	Primary immunodeficiency	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	2045537	\N	\N	EFO	4	EFO	digestive system disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	2045538	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	2045539	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	2045540	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	3195606	\N	\N	EFO	5	EFO	Rare genetic immune disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	3195607	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	5417772	\N	\N	EFO	7	EFO	disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	3195609	\N	\N	EFO	5	EFO	genetic disorder	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	3195610	\N	\N	EFO	5	EFO	metabolic disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	4401414	\N	\N	EFO	6	EFO	genetic disorder	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	4401415	\N	\N	EFO	6	EFO	immune system disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	5877707	\N	\N	EFO	8	EFO	disposition	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	4401418	\N	\N	EFO	6	EFO	disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	5417773	\N	\N	EFO	7	EFO	disease	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	6470932	\N	\N	EFO	9	EFO	material property	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79259	"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." []	6848781	\N	\N	EFO	10	EFO	experimental factor	Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Orphanet:79262	\N	\N	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	77957	\N	\N	EFO	0	EFO	Adult neuronal ceroid lipofuscinosis	Adult neuronal ceroid lipofuscinosis
Orphanet:216	Orphanet:79262	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	222332	\N	\N	EFO	1	EFO	Neuronal ceroid lipofuscinosis	Adult neuronal ceroid lipofuscinosis
Orphanet:98261	Orphanet:79262	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	222333	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Adult neuronal ceroid lipofuscinosis
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	578466	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Adult neuronal ceroid lipofuscinosis
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	578467	\N	\N	EFO	2	EFO	Lysosomal disease	Adult neuronal ceroid lipofuscinosis
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	578468	\N	\N	EFO	2	EFO	Neurometabolic disease	Adult neuronal ceroid lipofuscinosis
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	578469	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Adult neuronal ceroid lipofuscinosis
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	578470	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Adult neuronal ceroid lipofuscinosis
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	578471	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Adult neuronal ceroid lipofuscinosis
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	578472	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Adult neuronal ceroid lipofuscinosis
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	1161987	\N	\N	EFO	3	EFO	neurodegenerative disease	Adult neuronal ceroid lipofuscinosis
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	1161988	\N	\N	EFO	3	EFO	brain disease	Adult neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	1161989	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Adult neuronal ceroid lipofuscinosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	1161990	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Adult neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	1161991	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Adult neuronal ceroid lipofuscinosis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	1161992	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Adult neuronal ceroid lipofuscinosis
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	1161993	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Adult neuronal ceroid lipofuscinosis
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	1161994	\N	\N	EFO	3	EFO	Epilepsy syndrome	Adult neuronal ceroid lipofuscinosis
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	1161995	\N	\N	EFO	3	EFO	Epilepsy syndrome	Adult neuronal ceroid lipofuscinosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	2045541	\N	\N	EFO	4	EFO	nervous system disease	Adult neuronal ceroid lipofuscinosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	2045542	\N	\N	EFO	4	EFO	nervous system disease	Adult neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	4401423	\N	\N	EFO	6	EFO	genetic disorder	Adult neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	2045544	\N	\N	EFO	4	EFO	genetic disorder	Adult neuronal ceroid lipofuscinosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	2045545	\N	\N	EFO	4	EFO	metabolic disease	Adult neuronal ceroid lipofuscinosis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	2045546	\N	\N	EFO	4	EFO	Retinal dystrophy	Adult neuronal ceroid lipofuscinosis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	2045547	\N	\N	EFO	4	EFO	Rare genetic eye disease	Adult neuronal ceroid lipofuscinosis
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	2045548	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Adult neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	3195611	\N	\N	EFO	5	EFO	disease	Adult neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	5877709	\N	\N	EFO	8	EFO	disease	Adult neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	3195613	\N	\N	EFO	5	EFO	disease	Adult neuronal ceroid lipofuscinosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	3195614	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Adult neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	5417776	\N	\N	EFO	7	EFO	genetic disorder	Adult neuronal ceroid lipofuscinosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	5417777	\N	\N	EFO	7	EFO	eye disease	Adult neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	3195617	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Adult neuronal ceroid lipofuscinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	6410344	\N	\N	EFO	9	EFO	disposition	Adult neuronal ceroid lipofuscinosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	4401420	\N	\N	EFO	6	EFO	Rare genetic eye disease	Adult neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	5877710	\N	\N	EFO	8	EFO	disease	Adult neuronal ceroid lipofuscinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	6808156	\N	\N	EFO	10	EFO	material property	Adult neuronal ceroid lipofuscinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79262	"Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." []	7048795	\N	\N	EFO	11	EFO	experimental factor	Adult neuronal ceroid lipofuscinosis
Orphanet:79263	\N	\N	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	77958	\N	\N	EFO	0	EFO	Infantile neuronal ceroid lipofuscinosis	Infantile neuronal ceroid lipofuscinosis
Orphanet:216	Orphanet:79263	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	222334	\N	\N	EFO	1	EFO	Neuronal ceroid lipofuscinosis	Infantile neuronal ceroid lipofuscinosis
Orphanet:98261	Orphanet:79263	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	222335	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Infantile neuronal ceroid lipofuscinosis
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	578473	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Infantile neuronal ceroid lipofuscinosis
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	578474	\N	\N	EFO	2	EFO	Lysosomal disease	Infantile neuronal ceroid lipofuscinosis
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	578475	\N	\N	EFO	2	EFO	Neurometabolic disease	Infantile neuronal ceroid lipofuscinosis
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	578476	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Infantile neuronal ceroid lipofuscinosis
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	578477	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Infantile neuronal ceroid lipofuscinosis
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	578478	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Infantile neuronal ceroid lipofuscinosis
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	578479	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Infantile neuronal ceroid lipofuscinosis
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	1161996	\N	\N	EFO	3	EFO	neurodegenerative disease	Infantile neuronal ceroid lipofuscinosis
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	1161997	\N	\N	EFO	3	EFO	brain disease	Infantile neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	1161998	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile neuronal ceroid lipofuscinosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	1161999	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Infantile neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	1162000	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile neuronal ceroid lipofuscinosis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	1162001	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Infantile neuronal ceroid lipofuscinosis
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	1162002	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Infantile neuronal ceroid lipofuscinosis
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	1162003	\N	\N	EFO	3	EFO	Epilepsy syndrome	Infantile neuronal ceroid lipofuscinosis
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	1162004	\N	\N	EFO	3	EFO	Epilepsy syndrome	Infantile neuronal ceroid lipofuscinosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	2045549	\N	\N	EFO	4	EFO	nervous system disease	Infantile neuronal ceroid lipofuscinosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	2045550	\N	\N	EFO	4	EFO	nervous system disease	Infantile neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	4401428	\N	\N	EFO	6	EFO	genetic disorder	Infantile neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	2045552	\N	\N	EFO	4	EFO	genetic disorder	Infantile neuronal ceroid lipofuscinosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	2045553	\N	\N	EFO	4	EFO	metabolic disease	Infantile neuronal ceroid lipofuscinosis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	2045554	\N	\N	EFO	4	EFO	Retinal dystrophy	Infantile neuronal ceroid lipofuscinosis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	2045555	\N	\N	EFO	4	EFO	Rare genetic eye disease	Infantile neuronal ceroid lipofuscinosis
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	2045556	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Infantile neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	3195618	\N	\N	EFO	5	EFO	disease	Infantile neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	5877712	\N	\N	EFO	8	EFO	disease	Infantile neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	3195620	\N	\N	EFO	5	EFO	disease	Infantile neuronal ceroid lipofuscinosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	3195621	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Infantile neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	5417779	\N	\N	EFO	7	EFO	genetic disorder	Infantile neuronal ceroid lipofuscinosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	5417780	\N	\N	EFO	7	EFO	eye disease	Infantile neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	3195624	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Infantile neuronal ceroid lipofuscinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	6410345	\N	\N	EFO	9	EFO	disposition	Infantile neuronal ceroid lipofuscinosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	4401425	\N	\N	EFO	6	EFO	Rare genetic eye disease	Infantile neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	5877713	\N	\N	EFO	8	EFO	disease	Infantile neuronal ceroid lipofuscinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	6808157	\N	\N	EFO	10	EFO	material property	Infantile neuronal ceroid lipofuscinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79263	"Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." []	7048796	\N	\N	EFO	11	EFO	experimental factor	Infantile neuronal ceroid lipofuscinosis
Orphanet:79264	\N	\N	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	77959	\N	\N	EFO	0	EFO	Juvenile neuronal ceroid lipofuscinosis	Juvenile neuronal ceroid lipofuscinosis
Orphanet:216	Orphanet:79264	\N	"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	222336	\N	\N	EFO	1	EFO	Neuronal ceroid lipofuscinosis	Juvenile neuronal ceroid lipofuscinosis
Orphanet:98261	Orphanet:79264	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	222337	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Juvenile neuronal ceroid lipofuscinosis
Orphanet:183500	Orphanet:216	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	578480	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Juvenile neuronal ceroid lipofuscinosis
Orphanet:68366	Orphanet:216	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	578481	\N	\N	EFO	2	EFO	Lysosomal disease	Juvenile neuronal ceroid lipofuscinosis
Orphanet:68385	Orphanet:216	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	578482	\N	\N	EFO	2	EFO	Neurometabolic disease	Juvenile neuronal ceroid lipofuscinosis
Orphanet:98666	Orphanet:216	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	578483	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Juvenile neuronal ceroid lipofuscinosis
Orphanet:98713	Orphanet:216	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	578484	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Juvenile neuronal ceroid lipofuscinosis
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	578485	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Juvenile neuronal ceroid lipofuscinosis
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	578486	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Juvenile neuronal ceroid lipofuscinosis
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	1162005	\N	\N	EFO	3	EFO	neurodegenerative disease	Juvenile neuronal ceroid lipofuscinosis
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	1162006	\N	\N	EFO	3	EFO	brain disease	Juvenile neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	1162007	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Juvenile neuronal ceroid lipofuscinosis
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	1162008	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Juvenile neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	1162009	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Juvenile neuronal ceroid lipofuscinosis
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	1162010	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Juvenile neuronal ceroid lipofuscinosis
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	1162011	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Juvenile neuronal ceroid lipofuscinosis
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	1162012	\N	\N	EFO	3	EFO	Epilepsy syndrome	Juvenile neuronal ceroid lipofuscinosis
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	1162013	\N	\N	EFO	3	EFO	Epilepsy syndrome	Juvenile neuronal ceroid lipofuscinosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	2045557	\N	\N	EFO	4	EFO	nervous system disease	Juvenile neuronal ceroid lipofuscinosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	2045558	\N	\N	EFO	4	EFO	nervous system disease	Juvenile neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	4401433	\N	\N	EFO	6	EFO	genetic disorder	Juvenile neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	2045560	\N	\N	EFO	4	EFO	genetic disorder	Juvenile neuronal ceroid lipofuscinosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	2045561	\N	\N	EFO	4	EFO	metabolic disease	Juvenile neuronal ceroid lipofuscinosis
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	2045562	\N	\N	EFO	4	EFO	Retinal dystrophy	Juvenile neuronal ceroid lipofuscinosis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	2045563	\N	\N	EFO	4	EFO	Rare genetic eye disease	Juvenile neuronal ceroid lipofuscinosis
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	2045564	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Juvenile neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	3195625	\N	\N	EFO	5	EFO	disease	Juvenile neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	5877715	\N	\N	EFO	8	EFO	disease	Juvenile neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	3195627	\N	\N	EFO	5	EFO	disease	Juvenile neuronal ceroid lipofuscinosis
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	3195628	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Juvenile neuronal ceroid lipofuscinosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	5417782	\N	\N	EFO	7	EFO	genetic disorder	Juvenile neuronal ceroid lipofuscinosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	5417783	\N	\N	EFO	7	EFO	eye disease	Juvenile neuronal ceroid lipofuscinosis
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	3195631	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Juvenile neuronal ceroid lipofuscinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	6410346	\N	\N	EFO	9	EFO	disposition	Juvenile neuronal ceroid lipofuscinosis
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	4401430	\N	\N	EFO	6	EFO	Rare genetic eye disease	Juvenile neuronal ceroid lipofuscinosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	5877716	\N	\N	EFO	8	EFO	disease	Juvenile neuronal ceroid lipofuscinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	6808158	\N	\N	EFO	10	EFO	material property	Juvenile neuronal ceroid lipofuscinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79264	"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." []	7048797	\N	\N	EFO	11	EFO	experimental factor	Juvenile neuronal ceroid lipofuscinosis
Orphanet:79269	\N	\N	"" []	Orphanet:79269	"" []	77960	\N	\N	EFO	0	EFO	Sanfilippo syndrome type A	Sanfilippo syndrome type A
Orphanet:581	Orphanet:79269	\N	"" []	Orphanet:79269	"" []	222338	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 3	Sanfilippo syndrome type A
Orphanet:68385	Orphanet:581	\N	"" []	Orphanet:79269	"" []	578487	\N	\N	EFO	2	EFO	Neurometabolic disease	Sanfilippo syndrome type A
Orphanet:79213	Orphanet:581	\N	"" []	Orphanet:79269	"" []	578488	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Sanfilippo syndrome type A
Orphanet:93448	Orphanet:581	\N	"" []	Orphanet:79269	"" []	578489	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Sanfilippo syndrome type A
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79269	"" []	1162014	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Sanfilippo syndrome type A
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:79269	"" []	1162015	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Sanfilippo syndrome type A
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:79269	"" []	1162016	\N	\N	EFO	3	EFO	Lysosomal disease	Sanfilippo syndrome type A
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:79269	"" []	1162017	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Sanfilippo syndrome type A
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:79269	"" []	1162018	\N	\N	EFO	3	EFO	Rare genetic bone disease	Sanfilippo syndrome type A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79269	"" []	2045565	\N	\N	EFO	4	EFO	genetic disorder	Sanfilippo syndrome type A
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79269	"" []	2045566	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sanfilippo syndrome type A
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79269	"" []	2045567	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Sanfilippo syndrome type A
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:79269	"" []	2045568	\N	\N	EFO	4	EFO	Rare genetic eye disease	Sanfilippo syndrome type A
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79269	"" []	2045569	\N	\N	EFO	4	EFO	genetic disorder	Sanfilippo syndrome type A
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79269	"" []	2045570	\N	\N	EFO	4	EFO	bone disease	Sanfilippo syndrome type A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79269	"" []	4401435	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type A
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79269	"" []	3195633	\N	\N	EFO	5	EFO	genetic disorder	Sanfilippo syndrome type A
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79269	"" []	3195634	\N	\N	EFO	5	EFO	genetic disorder	Sanfilippo syndrome type A
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79269	"" []	3195635	\N	\N	EFO	5	EFO	metabolic disease	Sanfilippo syndrome type A
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79269	"" []	3195636	\N	\N	EFO	5	EFO	genetic disorder	Sanfilippo syndrome type A
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79269	"" []	3195637	\N	\N	EFO	5	EFO	eye disease	Sanfilippo syndrome type A
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79269	"" []	3195638	\N	\N	EFO	5	EFO	skeletal system disease	Sanfilippo syndrome type A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79269	"" []	5183295	\N	\N	EFO	7	EFO	disposition	Sanfilippo syndrome type A
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79269	"" []	4401436	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type A
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79269	"" []	4401437	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type A
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79269	"" []	4401438	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79269	"" []	5998629	\N	\N	EFO	8	EFO	material property	Sanfilippo syndrome type A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79269	"" []	6551692	\N	\N	EFO	9	EFO	experimental factor	Sanfilippo syndrome type A
Orphanet:79270	\N	\N	"" []	Orphanet:79270	"" []	77961	\N	\N	EFO	0	EFO	Sanfilippo syndrome type B	Sanfilippo syndrome type B
Orphanet:581	Orphanet:79270	\N	"" []	Orphanet:79270	"" []	222339	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 3	Sanfilippo syndrome type B
Orphanet:68385	Orphanet:581	\N	"" []	Orphanet:79270	"" []	578490	\N	\N	EFO	2	EFO	Neurometabolic disease	Sanfilippo syndrome type B
Orphanet:79213	Orphanet:581	\N	"" []	Orphanet:79270	"" []	578491	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Sanfilippo syndrome type B
Orphanet:93448	Orphanet:581	\N	"" []	Orphanet:79270	"" []	578492	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Sanfilippo syndrome type B
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79270	"" []	1162019	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Sanfilippo syndrome type B
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:79270	"" []	1162020	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Sanfilippo syndrome type B
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:79270	"" []	1162021	\N	\N	EFO	3	EFO	Lysosomal disease	Sanfilippo syndrome type B
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:79270	"" []	1162022	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Sanfilippo syndrome type B
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:79270	"" []	1162023	\N	\N	EFO	3	EFO	Rare genetic bone disease	Sanfilippo syndrome type B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79270	"" []	2045571	\N	\N	EFO	4	EFO	genetic disorder	Sanfilippo syndrome type B
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79270	"" []	2045572	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sanfilippo syndrome type B
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79270	"" []	2045573	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Sanfilippo syndrome type B
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:79270	"" []	2045574	\N	\N	EFO	4	EFO	Rare genetic eye disease	Sanfilippo syndrome type B
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79270	"" []	2045575	\N	\N	EFO	4	EFO	genetic disorder	Sanfilippo syndrome type B
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79270	"" []	2045576	\N	\N	EFO	4	EFO	bone disease	Sanfilippo syndrome type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79270	"" []	4401440	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type B
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79270	"" []	3195640	\N	\N	EFO	5	EFO	genetic disorder	Sanfilippo syndrome type B
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79270	"" []	3195641	\N	\N	EFO	5	EFO	genetic disorder	Sanfilippo syndrome type B
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79270	"" []	3195642	\N	\N	EFO	5	EFO	metabolic disease	Sanfilippo syndrome type B
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79270	"" []	3195643	\N	\N	EFO	5	EFO	genetic disorder	Sanfilippo syndrome type B
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79270	"" []	3195644	\N	\N	EFO	5	EFO	eye disease	Sanfilippo syndrome type B
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79270	"" []	3195645	\N	\N	EFO	5	EFO	skeletal system disease	Sanfilippo syndrome type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79270	"" []	5183296	\N	\N	EFO	7	EFO	disposition	Sanfilippo syndrome type B
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79270	"" []	4401441	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type B
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79270	"" []	4401442	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type B
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79270	"" []	4401443	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79270	"" []	5998630	\N	\N	EFO	8	EFO	material property	Sanfilippo syndrome type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79270	"" []	6551693	\N	\N	EFO	9	EFO	experimental factor	Sanfilippo syndrome type B
Orphanet:79271	\N	\N	"" []	Orphanet:79271	"" []	77962	\N	\N	EFO	0	EFO	Sanfilippo syndrome type C	Sanfilippo syndrome type C
Orphanet:581	Orphanet:79271	\N	"" []	Orphanet:79271	"" []	222340	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 3	Sanfilippo syndrome type C
Orphanet:68385	Orphanet:581	\N	"" []	Orphanet:79271	"" []	578493	\N	\N	EFO	2	EFO	Neurometabolic disease	Sanfilippo syndrome type C
Orphanet:79213	Orphanet:581	\N	"" []	Orphanet:79271	"" []	578494	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Sanfilippo syndrome type C
Orphanet:93448	Orphanet:581	\N	"" []	Orphanet:79271	"" []	578495	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Sanfilippo syndrome type C
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79271	"" []	1162024	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Sanfilippo syndrome type C
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:79271	"" []	1162025	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Sanfilippo syndrome type C
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:79271	"" []	1162026	\N	\N	EFO	3	EFO	Lysosomal disease	Sanfilippo syndrome type C
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:79271	"" []	1162027	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Sanfilippo syndrome type C
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:79271	"" []	1162028	\N	\N	EFO	3	EFO	Rare genetic bone disease	Sanfilippo syndrome type C
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79271	"" []	2045577	\N	\N	EFO	4	EFO	genetic disorder	Sanfilippo syndrome type C
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79271	"" []	2045578	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sanfilippo syndrome type C
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79271	"" []	2045579	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Sanfilippo syndrome type C
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:79271	"" []	2045580	\N	\N	EFO	4	EFO	Rare genetic eye disease	Sanfilippo syndrome type C
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79271	"" []	2045581	\N	\N	EFO	4	EFO	genetic disorder	Sanfilippo syndrome type C
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79271	"" []	2045582	\N	\N	EFO	4	EFO	bone disease	Sanfilippo syndrome type C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79271	"" []	4401445	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type C
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79271	"" []	3195647	\N	\N	EFO	5	EFO	genetic disorder	Sanfilippo syndrome type C
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79271	"" []	3195648	\N	\N	EFO	5	EFO	genetic disorder	Sanfilippo syndrome type C
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79271	"" []	3195649	\N	\N	EFO	5	EFO	metabolic disease	Sanfilippo syndrome type C
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79271	"" []	3195650	\N	\N	EFO	5	EFO	genetic disorder	Sanfilippo syndrome type C
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79271	"" []	3195651	\N	\N	EFO	5	EFO	eye disease	Sanfilippo syndrome type C
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79271	"" []	3195652	\N	\N	EFO	5	EFO	skeletal system disease	Sanfilippo syndrome type C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79271	"" []	5183297	\N	\N	EFO	7	EFO	disposition	Sanfilippo syndrome type C
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79271	"" []	4401446	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type C
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79271	"" []	4401447	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type C
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79271	"" []	4401448	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79271	"" []	5998631	\N	\N	EFO	8	EFO	material property	Sanfilippo syndrome type C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79271	"" []	6551694	\N	\N	EFO	9	EFO	experimental factor	Sanfilippo syndrome type C
Orphanet:79272	\N	\N	"" []	Orphanet:79272	"" []	77963	\N	\N	EFO	0	EFO	Sanfilippo syndrome type D	Sanfilippo syndrome type D
Orphanet:581	Orphanet:79272	\N	"" []	Orphanet:79272	"" []	222341	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 3	Sanfilippo syndrome type D
Orphanet:68385	Orphanet:581	\N	"" []	Orphanet:79272	"" []	578496	\N	\N	EFO	2	EFO	Neurometabolic disease	Sanfilippo syndrome type D
Orphanet:79213	Orphanet:581	\N	"" []	Orphanet:79272	"" []	578497	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Sanfilippo syndrome type D
Orphanet:93448	Orphanet:581	\N	"" []	Orphanet:79272	"" []	578498	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Sanfilippo syndrome type D
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79272	"" []	1162029	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Sanfilippo syndrome type D
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:79272	"" []	1162030	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Sanfilippo syndrome type D
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:79272	"" []	1162031	\N	\N	EFO	3	EFO	Lysosomal disease	Sanfilippo syndrome type D
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:79272	"" []	1162032	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Sanfilippo syndrome type D
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:79272	"" []	1162033	\N	\N	EFO	3	EFO	Rare genetic bone disease	Sanfilippo syndrome type D
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79272	"" []	2045583	\N	\N	EFO	4	EFO	genetic disorder	Sanfilippo syndrome type D
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79272	"" []	2045584	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sanfilippo syndrome type D
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79272	"" []	2045585	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Sanfilippo syndrome type D
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:79272	"" []	2045586	\N	\N	EFO	4	EFO	Rare genetic eye disease	Sanfilippo syndrome type D
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79272	"" []	2045587	\N	\N	EFO	4	EFO	genetic disorder	Sanfilippo syndrome type D
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79272	"" []	2045588	\N	\N	EFO	4	EFO	bone disease	Sanfilippo syndrome type D
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79272	"" []	4401450	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type D
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79272	"" []	3195654	\N	\N	EFO	5	EFO	genetic disorder	Sanfilippo syndrome type D
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79272	"" []	3195655	\N	\N	EFO	5	EFO	genetic disorder	Sanfilippo syndrome type D
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79272	"" []	3195656	\N	\N	EFO	5	EFO	metabolic disease	Sanfilippo syndrome type D
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79272	"" []	3195657	\N	\N	EFO	5	EFO	genetic disorder	Sanfilippo syndrome type D
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79272	"" []	3195658	\N	\N	EFO	5	EFO	eye disease	Sanfilippo syndrome type D
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79272	"" []	3195659	\N	\N	EFO	5	EFO	skeletal system disease	Sanfilippo syndrome type D
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79272	"" []	5183298	\N	\N	EFO	7	EFO	disposition	Sanfilippo syndrome type D
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79272	"" []	4401451	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type D
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79272	"" []	4401452	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type D
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79272	"" []	4401453	\N	\N	EFO	6	EFO	disease	Sanfilippo syndrome type D
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79272	"" []	5998632	\N	\N	EFO	8	EFO	material property	Sanfilippo syndrome type D
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79272	"" []	6551695	\N	\N	EFO	9	EFO	experimental factor	Sanfilippo syndrome type D
Orphanet:79273	\N	\N	"" []	Orphanet:79273	"" []	77964	\N	\N	EFO	0	EFO	Hereditary coproporphyria	Hereditary coproporphyria
Orphanet:95157	Orphanet:79273	\N	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	Orphanet:79273	"" []	222342	\N	\N	EFO	1	EFO	Acute hepatic porphyria	Hereditary coproporphyria
Orphanet:207018	Orphanet:95157	\N	"" []	Orphanet:79273	"" []	578499	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Hereditary coproporphyria
Orphanet:738	Orphanet:95157	\N	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	Orphanet:79273	"" []	578500	\N	\N	EFO	2	EFO	Porphyria	Hereditary coproporphyria
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:79273	"" []	1162034	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Hereditary coproporphyria
Orphanet:183490	Orphanet:738	\N	"" []	Orphanet:79273	"" []	1162035	\N	\N	EFO	3	EFO	Genetic photodermatosis	Hereditary coproporphyria
Orphanet:309813	Orphanet:738	\N	"" []	Orphanet:79273	"" []	1162036	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Hereditary coproporphyria
Orphanet:79387	Orphanet:738	\N	"" []	Orphanet:79273	"" []	1162037	\N	\N	EFO	3	EFO	Metabolic disease with skin involvement	Hereditary coproporphyria
Orphanet:93593	Orphanet:738	\N	"" []	Orphanet:79273	"" []	1162038	\N	\N	EFO	3	EFO	Nephropathy secondary to a storage or other metabolic disease	Hereditary coproporphyria
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:79273	"" []	2045589	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Hereditary coproporphyria
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:79273	"" []	2045590	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hereditary coproporphyria
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:79273	"" []	2045591	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hereditary coproporphyria
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79273	"" []	2045592	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hereditary coproporphyria
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79273	"" []	2045593	\N	\N	EFO	4	EFO	Rare genetic renal disease	Hereditary coproporphyria
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:79273	"" []	3195660	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hereditary coproporphyria
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79273	"" []	3195661	\N	\N	EFO	5	EFO	genetic disorder	Hereditary coproporphyria
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79273	"" []	3195662	\N	\N	EFO	5	EFO	skin disease	Hereditary coproporphyria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79273	"" []	3195663	\N	\N	EFO	5	EFO	genetic disorder	Hereditary coproporphyria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79273	"" []	3195664	\N	\N	EFO	5	EFO	metabolic disease	Hereditary coproporphyria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79273	"" []	3195665	\N	\N	EFO	5	EFO	genetic disorder	Hereditary coproporphyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79273	"" []	4401454	\N	\N	EFO	6	EFO	genetic disorder	Hereditary coproporphyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79273	"" []	5417788	\N	\N	EFO	7	EFO	disease	Hereditary coproporphyria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79273	"" []	4401456	\N	\N	EFO	6	EFO	disease	Hereditary coproporphyria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79273	"" []	4401457	\N	\N	EFO	6	EFO	disease	Hereditary coproporphyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79273	"" []	5998633	\N	\N	EFO	8	EFO	disposition	Hereditary coproporphyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79273	"" []	6551696	\N	\N	EFO	9	EFO	material property	Hereditary coproporphyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79273	"" []	6889520	\N	\N	EFO	10	EFO	experimental factor	Hereditary coproporphyria
Orphanet:79276	\N	\N	"" []	Orphanet:79276	"" []	77965	\N	\N	EFO	0	EFO	Acute intermittent porphyria	Acute intermittent porphyria
Orphanet:100932	Orphanet:79276	\N	"" []	Orphanet:79276	"" []	222343	\N	\N	EFO	1	EFO	Nuclear oculomotor paralysis	Acute intermittent porphyria
Orphanet:95157	Orphanet:79276	\N	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	Orphanet:79276	"" []	222344	\N	\N	EFO	1	EFO	Acute hepatic porphyria	Acute intermittent porphyria
Orphanet:98685	Orphanet:100932	\N	"" []	Orphanet:79276	"" []	578501	\N	\N	EFO	2	EFO	Oculomotor palsy	Acute intermittent porphyria
Orphanet:207018	Orphanet:95157	\N	"" []	Orphanet:79276	"" []	578502	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Acute intermittent porphyria
Orphanet:738	Orphanet:95157	\N	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	Orphanet:79276	"" []	578503	\N	\N	EFO	2	EFO	Porphyria	Acute intermittent porphyria
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:79276	"" []	1162039	\N	\N	EFO	3	EFO	palsy	Acute intermittent porphyria
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:79276	"" []	1162040	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Acute intermittent porphyria
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:79276	"" []	1162041	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Acute intermittent porphyria
Orphanet:183490	Orphanet:738	\N	"" []	Orphanet:79276	"" []	1162042	\N	\N	EFO	3	EFO	Genetic photodermatosis	Acute intermittent porphyria
Orphanet:309813	Orphanet:738	\N	"" []	Orphanet:79276	"" []	1162043	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Acute intermittent porphyria
Orphanet:79387	Orphanet:738	\N	"" []	Orphanet:79276	"" []	1162044	\N	\N	EFO	3	EFO	Metabolic disease with skin involvement	Acute intermittent porphyria
Orphanet:93593	Orphanet:738	\N	"" []	Orphanet:79276	"" []	1162045	\N	\N	EFO	3	EFO	Nephropathy secondary to a storage or other metabolic disease	Acute intermittent porphyria
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:79276	"" []	2045594	\N	\N	EFO	4	EFO	nervous system disease	Acute intermittent porphyria
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:79276	"" []	2045595	\N	\N	EFO	4	EFO	Rare genetic eye disease	Acute intermittent porphyria
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:79276	"" []	2045596	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Acute intermittent porphyria
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:79276	"" []	2045597	\N	\N	EFO	4	EFO	Rare genetic skin disease	Acute intermittent porphyria
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:79276	"" []	2045598	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Acute intermittent porphyria
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79276	"" []	2045599	\N	\N	EFO	4	EFO	Rare genetic skin disease	Acute intermittent porphyria
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79276	"" []	2045600	\N	\N	EFO	4	EFO	Rare genetic renal disease	Acute intermittent porphyria
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79276	"" []	3195666	\N	\N	EFO	5	EFO	disease	Acute intermittent porphyria
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79276	"" []	3195667	\N	\N	EFO	5	EFO	genetic disorder	Acute intermittent porphyria
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79276	"" []	3195668	\N	\N	EFO	5	EFO	eye disease	Acute intermittent porphyria
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:79276	"" []	3195669	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Acute intermittent porphyria
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79276	"" []	3195670	\N	\N	EFO	5	EFO	genetic disorder	Acute intermittent porphyria
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79276	"" []	3195671	\N	\N	EFO	5	EFO	skin disease	Acute intermittent porphyria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79276	"" []	3195672	\N	\N	EFO	5	EFO	genetic disorder	Acute intermittent porphyria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79276	"" []	3195673	\N	\N	EFO	5	EFO	metabolic disease	Acute intermittent porphyria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79276	"" []	3195674	\N	\N	EFO	5	EFO	genetic disorder	Acute intermittent porphyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79276	"" []	5998635	\N	\N	EFO	8	EFO	disposition	Acute intermittent porphyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79276	"" []	5417792	\N	\N	EFO	7	EFO	disease	Acute intermittent porphyria
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79276	"" []	4401460	\N	\N	EFO	6	EFO	disease	Acute intermittent porphyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79276	"" []	4401461	\N	\N	EFO	6	EFO	genetic disorder	Acute intermittent porphyria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79276	"" []	4401462	\N	\N	EFO	6	EFO	disease	Acute intermittent porphyria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79276	"" []	4401463	\N	\N	EFO	6	EFO	disease	Acute intermittent porphyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79276	"" []	6470936	\N	\N	EFO	9	EFO	material property	Acute intermittent porphyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79276	"" []	6848785	\N	\N	EFO	10	EFO	experimental factor	Acute intermittent porphyria
Orphanet:79277	\N	\N	"" []	Orphanet:79277	"" []	77966	\N	\N	EFO	0	EFO	Congenital erythropoietic porphyria	Congenital erythropoietic porphyria
Orphanet:738	Orphanet:79277	\N	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	Orphanet:79277	"" []	222345	\N	\N	EFO	1	EFO	Porphyria	Congenital erythropoietic porphyria
Orphanet:98369	Orphanet:79277	\N	"" []	Orphanet:79277	"" []	222346	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Congenital erythropoietic porphyria
Orphanet:183490	Orphanet:738	\N	"" []	Orphanet:79277	"" []	578504	\N	\N	EFO	2	EFO	Genetic photodermatosis	Congenital erythropoietic porphyria
Orphanet:309813	Orphanet:738	\N	"" []	Orphanet:79277	"" []	578505	\N	\N	EFO	2	EFO	Disorder of porphyrin and haem metabolism	Congenital erythropoietic porphyria
Orphanet:79387	Orphanet:738	\N	"" []	Orphanet:79277	"" []	578506	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Congenital erythropoietic porphyria
Orphanet:93593	Orphanet:738	\N	"" []	Orphanet:79277	"" []	578507	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Congenital erythropoietic porphyria
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:79277	"" []	578508	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Congenital erythropoietic porphyria
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:79277	"" []	1162046	\N	\N	EFO	3	EFO	Rare genetic skin disease	Congenital erythropoietic porphyria
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:79277	"" []	1162047	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Congenital erythropoietic porphyria
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79277	"" []	1162048	\N	\N	EFO	3	EFO	Rare genetic skin disease	Congenital erythropoietic porphyria
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79277	"" []	1162049	\N	\N	EFO	3	EFO	Rare genetic renal disease	Congenital erythropoietic porphyria
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:79277	"" []	1162050	\N	\N	EFO	3	EFO	Rare constitutional anemia	Congenital erythropoietic porphyria
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79277	"" []	2045601	\N	\N	EFO	4	EFO	genetic disorder	Congenital erythropoietic porphyria
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79277	"" []	2045602	\N	\N	EFO	4	EFO	skin disease	Congenital erythropoietic porphyria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79277	"" []	2045603	\N	\N	EFO	4	EFO	genetic disorder	Congenital erythropoietic porphyria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79277	"" []	2045604	\N	\N	EFO	4	EFO	metabolic disease	Congenital erythropoietic porphyria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79277	"" []	2045605	\N	\N	EFO	4	EFO	genetic disorder	Congenital erythropoietic porphyria
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:79277	"" []	2045606	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Congenital erythropoietic porphyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79277	"" []	4401465	\N	\N	EFO	6	EFO	disease	Congenital erythropoietic porphyria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79277	"" []	3195676	\N	\N	EFO	5	EFO	disease	Congenital erythropoietic porphyria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79277	"" []	3195677	\N	\N	EFO	5	EFO	disease	Congenital erythropoietic porphyria
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79277	"" []	3195678	\N	\N	EFO	5	EFO	genetic disorder	Congenital erythropoietic porphyria
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:79277	"" []	3195679	\N	\N	EFO	5	EFO	hematological system disease	Congenital erythropoietic porphyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79277	"" []	5183299	\N	\N	EFO	7	EFO	disposition	Congenital erythropoietic porphyria
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79277	"" []	4401466	\N	\N	EFO	6	EFO	disease	Congenital erythropoietic porphyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79277	"" []	5998636	\N	\N	EFO	8	EFO	material property	Congenital erythropoietic porphyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79277	"" []	6551698	\N	\N	EFO	9	EFO	experimental factor	Congenital erythropoietic porphyria
Orphanet:79278	\N	\N	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	77967	\N	\N	EFO	0	EFO	Erythropoietic protoporphyria	Erythropoietic protoporphyria
Orphanet:738	Orphanet:79278	\N	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	222347	\N	\N	EFO	1	EFO	Porphyria	Erythropoietic protoporphyria
Orphanet:183490	Orphanet:738	\N	"" []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	578509	\N	\N	EFO	2	EFO	Genetic photodermatosis	Erythropoietic protoporphyria
Orphanet:309813	Orphanet:738	\N	"" []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	578510	\N	\N	EFO	2	EFO	Disorder of porphyrin and haem metabolism	Erythropoietic protoporphyria
Orphanet:79387	Orphanet:738	\N	"" []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	578511	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Erythropoietic protoporphyria
Orphanet:93593	Orphanet:738	\N	"" []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	578512	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Erythropoietic protoporphyria
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	1162051	\N	\N	EFO	3	EFO	Rare genetic skin disease	Erythropoietic protoporphyria
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	1162052	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Erythropoietic protoporphyria
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	1162053	\N	\N	EFO	3	EFO	Rare genetic skin disease	Erythropoietic protoporphyria
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	1162054	\N	\N	EFO	3	EFO	Rare genetic renal disease	Erythropoietic protoporphyria
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	2045607	\N	\N	EFO	4	EFO	genetic disorder	Erythropoietic protoporphyria
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	2045608	\N	\N	EFO	4	EFO	skin disease	Erythropoietic protoporphyria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	2045609	\N	\N	EFO	4	EFO	genetic disorder	Erythropoietic protoporphyria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	2045610	\N	\N	EFO	4	EFO	metabolic disease	Erythropoietic protoporphyria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	2045611	\N	\N	EFO	4	EFO	genetic disorder	Erythropoietic protoporphyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	3195680	\N	\N	EFO	5	EFO	disease	Erythropoietic protoporphyria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	3195681	\N	\N	EFO	5	EFO	disease	Erythropoietic protoporphyria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	3195682	\N	\N	EFO	5	EFO	disease	Erythropoietic protoporphyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	4401467	\N	\N	EFO	6	EFO	disposition	Erythropoietic protoporphyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	5417794	\N	\N	EFO	7	EFO	material property	Erythropoietic protoporphyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79278	"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." []	6152639	\N	\N	EFO	8	EFO	experimental factor	Erythropoietic protoporphyria
Orphanet:79279	\N	\N	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	77968	\N	\N	EFO	0	EFO	Alpha-N-acetylgalactosaminidase deficiency type 1	Alpha-N-acetylgalactosaminidase deficiency type 1
Orphanet:3137	Orphanet:79279	\N	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	222348	\N	\N	EFO	1	EFO	Alpha-N-acetylgalactosaminidase deficiency	Alpha-N-acetylgalactosaminidase deficiency type 1
Orphanet:68385	Orphanet:3137	\N	"" []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	578513	\N	\N	EFO	2	EFO	Neurometabolic disease	Alpha-N-acetylgalactosaminidase deficiency type 1
Orphanet:79215	Orphanet:3137	\N	"" []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	578514	\N	\N	EFO	2	EFO	Oligosaccharidosis	Alpha-N-acetylgalactosaminidase deficiency type 1
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	1162055	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alpha-N-acetylgalactosaminidase deficiency type 1
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	1162056	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Alpha-N-acetylgalactosaminidase deficiency type 1
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	1162057	\N	\N	EFO	3	EFO	Glycoproteinosis	Alpha-N-acetylgalactosaminidase deficiency type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	2045612	\N	\N	EFO	4	EFO	genetic disorder	Alpha-N-acetylgalactosaminidase deficiency type 1
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	2045613	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alpha-N-acetylgalactosaminidase deficiency type 1
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	2045614	\N	\N	EFO	4	EFO	Lysosomal disease	Alpha-N-acetylgalactosaminidase deficiency type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	5417796	\N	\N	EFO	7	EFO	disease	Alpha-N-acetylgalactosaminidase deficiency type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	3195684	\N	\N	EFO	5	EFO	genetic disorder	Alpha-N-acetylgalactosaminidase deficiency type 1
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	3195685	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Alpha-N-acetylgalactosaminidase deficiency type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	5877717	\N	\N	EFO	8	EFO	disposition	Alpha-N-acetylgalactosaminidase deficiency type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	4401470	\N	\N	EFO	6	EFO	genetic disorder	Alpha-N-acetylgalactosaminidase deficiency type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	4401471	\N	\N	EFO	6	EFO	metabolic disease	Alpha-N-acetylgalactosaminidase deficiency type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	6470937	\N	\N	EFO	9	EFO	material property	Alpha-N-acetylgalactosaminidase deficiency type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	5417797	\N	\N	EFO	7	EFO	disease	Alpha-N-acetylgalactosaminidase deficiency type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79279	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." []	6848786	\N	\N	EFO	10	EFO	experimental factor	Alpha-N-acetylgalactosaminidase deficiency type 1
Orphanet:79280	\N	\N	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	77969	\N	\N	EFO	0	EFO	Alpha-N-acetylgalactosaminidase deficiency type 2	Alpha-N-acetylgalactosaminidase deficiency type 2
Orphanet:3137	Orphanet:79280	\N	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	222349	\N	\N	EFO	1	EFO	Alpha-N-acetylgalactosaminidase deficiency	Alpha-N-acetylgalactosaminidase deficiency type 2
Orphanet:68385	Orphanet:3137	\N	"" []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	578515	\N	\N	EFO	2	EFO	Neurometabolic disease	Alpha-N-acetylgalactosaminidase deficiency type 2
Orphanet:79215	Orphanet:3137	\N	"" []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	578516	\N	\N	EFO	2	EFO	Oligosaccharidosis	Alpha-N-acetylgalactosaminidase deficiency type 2
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	1162058	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alpha-N-acetylgalactosaminidase deficiency type 2
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	1162059	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Alpha-N-acetylgalactosaminidase deficiency type 2
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	1162060	\N	\N	EFO	3	EFO	Glycoproteinosis	Alpha-N-acetylgalactosaminidase deficiency type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	2045615	\N	\N	EFO	4	EFO	genetic disorder	Alpha-N-acetylgalactosaminidase deficiency type 2
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	2045616	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alpha-N-acetylgalactosaminidase deficiency type 2
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	2045617	\N	\N	EFO	4	EFO	Lysosomal disease	Alpha-N-acetylgalactosaminidase deficiency type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	5417799	\N	\N	EFO	7	EFO	disease	Alpha-N-acetylgalactosaminidase deficiency type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	3195687	\N	\N	EFO	5	EFO	genetic disorder	Alpha-N-acetylgalactosaminidase deficiency type 2
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	3195688	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Alpha-N-acetylgalactosaminidase deficiency type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	5877718	\N	\N	EFO	8	EFO	disposition	Alpha-N-acetylgalactosaminidase deficiency type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	4401474	\N	\N	EFO	6	EFO	genetic disorder	Alpha-N-acetylgalactosaminidase deficiency type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	4401475	\N	\N	EFO	6	EFO	metabolic disease	Alpha-N-acetylgalactosaminidase deficiency type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	6470938	\N	\N	EFO	9	EFO	material property	Alpha-N-acetylgalactosaminidase deficiency type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	5417800	\N	\N	EFO	7	EFO	disease	Alpha-N-acetylgalactosaminidase deficiency type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79280	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." []	6848787	\N	\N	EFO	10	EFO	experimental factor	Alpha-N-acetylgalactosaminidase deficiency type 2
Orphanet:79281	\N	\N	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	77970	\N	\N	EFO	0	EFO	Alpha-N-acetylgalactosaminidase deficiency type 3	Alpha-N-acetylgalactosaminidase deficiency type 3
Orphanet:3137	Orphanet:79281	\N	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	222350	\N	\N	EFO	1	EFO	Alpha-N-acetylgalactosaminidase deficiency	Alpha-N-acetylgalactosaminidase deficiency type 3
Orphanet:68385	Orphanet:3137	\N	"" []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	578517	\N	\N	EFO	2	EFO	Neurometabolic disease	Alpha-N-acetylgalactosaminidase deficiency type 3
Orphanet:79215	Orphanet:3137	\N	"" []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	578518	\N	\N	EFO	2	EFO	Oligosaccharidosis	Alpha-N-acetylgalactosaminidase deficiency type 3
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	1162061	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alpha-N-acetylgalactosaminidase deficiency type 3
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	1162062	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Alpha-N-acetylgalactosaminidase deficiency type 3
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	1162063	\N	\N	EFO	3	EFO	Glycoproteinosis	Alpha-N-acetylgalactosaminidase deficiency type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	2045618	\N	\N	EFO	4	EFO	genetic disorder	Alpha-N-acetylgalactosaminidase deficiency type 3
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	2045619	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alpha-N-acetylgalactosaminidase deficiency type 3
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	2045620	\N	\N	EFO	4	EFO	Lysosomal disease	Alpha-N-acetylgalactosaminidase deficiency type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	5417802	\N	\N	EFO	7	EFO	disease	Alpha-N-acetylgalactosaminidase deficiency type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	3195690	\N	\N	EFO	5	EFO	genetic disorder	Alpha-N-acetylgalactosaminidase deficiency type 3
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	3195691	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Alpha-N-acetylgalactosaminidase deficiency type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	5877719	\N	\N	EFO	8	EFO	disposition	Alpha-N-acetylgalactosaminidase deficiency type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	4401478	\N	\N	EFO	6	EFO	genetic disorder	Alpha-N-acetylgalactosaminidase deficiency type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	4401479	\N	\N	EFO	6	EFO	metabolic disease	Alpha-N-acetylgalactosaminidase deficiency type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	6470939	\N	\N	EFO	9	EFO	material property	Alpha-N-acetylgalactosaminidase deficiency type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	5417803	\N	\N	EFO	7	EFO	disease	Alpha-N-acetylgalactosaminidase deficiency type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79281	"Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." []	6848788	\N	\N	EFO	10	EFO	experimental factor	Alpha-N-acetylgalactosaminidase deficiency type 3
Orphanet:79282	\N	\N	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	77971	\N	\N	EFO	0	EFO	Methylmalonic acidemia with homocystinuria, type cblC	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:207018	Orphanet:79282	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	222351	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:26	Orphanet:79282	\N	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	222352	\N	\N	EFO	1	EFO	Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:98713	Orphanet:79282	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	222353	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	578519	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:79163	Orphanet:26	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	578520	\N	\N	EFO	2	EFO	Classic organic aciduria	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:79171	Orphanet:26	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	578521	\N	\N	EFO	2	EFO	Disorder of cobalamin metabolism and transport	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:98396	Orphanet:26	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	578522	\N	\N	EFO	2	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	578523	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	1162064	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	1162065	\N	\N	EFO	3	EFO	Organic aciduria	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	1162066	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	1162067	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	1162068	\N	\N	EFO	3	EFO	Constitutional deficiency anemia	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	1162069	\N	\N	EFO	3	EFO	Rare genetic eye disease	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	2045621	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	2045622	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	2045623	\N	\N	EFO	4	EFO	metabolic disease	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	2045624	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	2045625	\N	\N	EFO	4	EFO	Rare constitutional anemia	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	2045626	\N	\N	EFO	4	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	2045627	\N	\N	EFO	4	EFO	eye disease	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	3195692	\N	\N	EFO	5	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	3195693	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	5417805	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	3195695	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	3195696	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	5417804	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	3195698	\N	\N	EFO	5	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	4401481	\N	\N	EFO	6	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	4401482	\N	\N	EFO	6	EFO	metabolic disease	Methylmalonic acidemia with homocystinuria, type cblC
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	5877720	\N	\N	EFO	8	EFO	disposition	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	4401484	\N	\N	EFO	6	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	4401485	\N	\N	EFO	6	EFO	hematological system disease	Methylmalonic acidemia with homocystinuria, type cblC
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	6470940	\N	\N	EFO	9	EFO	material property	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	5417807	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblC
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79282	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	6848789	\N	\N	EFO	10	EFO	experimental factor	Methylmalonic acidemia with homocystinuria, type cblC
Orphanet:79283	\N	\N	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	77972	\N	\N	EFO	0	EFO	Methylmalonic acidemia with homocystinuria, type cblD	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:26	Orphanet:79283	\N	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	222354	\N	\N	EFO	1	EFO	Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:79163	Orphanet:26	\N	"" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	578524	\N	\N	EFO	2	EFO	Classic organic aciduria	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:79171	Orphanet:26	\N	"" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	578525	\N	\N	EFO	2	EFO	Disorder of cobalamin metabolism and transport	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:98396	Orphanet:26	\N	"" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	578526	\N	\N	EFO	2	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	1162070	\N	\N	EFO	3	EFO	Organic aciduria	Methylmalonic acidemia with homocystinuria, type cblD
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	1162071	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	1162072	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	1162073	\N	\N	EFO	3	EFO	Constitutional deficiency anemia	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	2045628	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Methylmalonic acidemia with homocystinuria, type cblD
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	2045629	\N	\N	EFO	4	EFO	metabolic disease	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	2045630	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	2045631	\N	\N	EFO	4	EFO	Rare constitutional anemia	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	3195699	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylmalonic acidemia with homocystinuria, type cblD
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	5417809	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	3195701	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	3195702	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Methylmalonic acidemia with homocystinuria, type cblD
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	4401486	\N	\N	EFO	6	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria, type cblD
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	4401487	\N	\N	EFO	6	EFO	metabolic disease	Methylmalonic acidemia with homocystinuria, type cblD
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	5877721	\N	\N	EFO	8	EFO	disposition	Methylmalonic acidemia with homocystinuria, type cblD
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	4401489	\N	\N	EFO	6	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria, type cblD
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	4401490	\N	\N	EFO	6	EFO	hematological system disease	Methylmalonic acidemia with homocystinuria, type cblD
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	5417808	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblD
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	6470941	\N	\N	EFO	9	EFO	material property	Methylmalonic acidemia with homocystinuria, type cblD
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	5417811	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria, type cblD
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79283	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." []	6848790	\N	\N	EFO	10	EFO	experimental factor	Methylmalonic acidemia with homocystinuria, type cblD
Orphanet:79284	\N	\N	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	77973	\N	\N	EFO	0	EFO	Methylmalonic acidemia with homocystinuria type cblF	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:26	Orphanet:79284	\N	"Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	222355	\N	\N	EFO	1	EFO	Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:79163	Orphanet:26	\N	"" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	578527	\N	\N	EFO	2	EFO	Classic organic aciduria	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:79171	Orphanet:26	\N	"" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	578528	\N	\N	EFO	2	EFO	Disorder of cobalamin metabolism and transport	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:98396	Orphanet:26	\N	"" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	578529	\N	\N	EFO	2	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	1162074	\N	\N	EFO	3	EFO	Organic aciduria	Methylmalonic acidemia with homocystinuria type cblF
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	1162075	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	1162076	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	1162077	\N	\N	EFO	3	EFO	Constitutional deficiency anemia	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	2045632	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Methylmalonic acidemia with homocystinuria type cblF
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	2045633	\N	\N	EFO	4	EFO	metabolic disease	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	2045634	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	2045635	\N	\N	EFO	4	EFO	Rare constitutional anemia	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	3195703	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylmalonic acidemia with homocystinuria type cblF
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	5417813	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	3195705	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	3195706	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Methylmalonic acidemia with homocystinuria type cblF
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	4401491	\N	\N	EFO	6	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria type cblF
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	4401492	\N	\N	EFO	6	EFO	metabolic disease	Methylmalonic acidemia with homocystinuria type cblF
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	5877722	\N	\N	EFO	8	EFO	disposition	Methylmalonic acidemia with homocystinuria type cblF
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	4401494	\N	\N	EFO	6	EFO	genetic disorder	Methylmalonic acidemia with homocystinuria type cblF
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	4401495	\N	\N	EFO	6	EFO	hematological system disease	Methylmalonic acidemia with homocystinuria type cblF
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	5417812	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria type cblF
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	6470942	\N	\N	EFO	9	EFO	material property	Methylmalonic acidemia with homocystinuria type cblF
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	5417815	\N	\N	EFO	7	EFO	disease	Methylmalonic acidemia with homocystinuria type cblF
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79284	" type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." []	6848791	\N	\N	EFO	10	EFO	experimental factor	Methylmalonic acidemia with homocystinuria type cblF
Orphanet:79292	\N	\N	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	77974	\N	\N	EFO	0	EFO	Fish-eye disease	Fish-eye disease
Orphanet:650	Orphanet:79292	\N	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	222356	\N	\N	EFO	1	EFO	LCAT deficiency	Fish-eye disease
Orphanet:31153	Orphanet:650	\N	"" []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	578530	\N	\N	EFO	2	EFO	Hypoalphalipoproteinemia	Fish-eye disease
Orphanet:93593	Orphanet:650	\N	"" []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	578531	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Fish-eye disease
Orphanet:98711	Orphanet:650	\N	"" []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	578532	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Fish-eye disease
Orphanet:181431	Orphanet:31153	\N	"" []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	1162078	\N	\N	EFO	3	EFO	Rare hypolipidemia	Fish-eye disease
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	1162079	\N	\N	EFO	3	EFO	Rare genetic renal disease	Fish-eye disease
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	1162080	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Fish-eye disease
Orphanet:101953	Orphanet:181431	\N	"" []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	2045636	\N	\N	EFO	4	EFO	Rare dyslipidemia	Fish-eye disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	2045637	\N	\N	EFO	4	EFO	genetic disorder	Fish-eye disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	2045638	\N	\N	EFO	4	EFO	Rare genetic eye disease	Fish-eye disease
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	3195707	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Fish-eye disease
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	3195708	\N	\N	EFO	5	EFO	Disorder of lipid metabolism	Fish-eye disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	6152646	\N	\N	EFO	8	EFO	disease	Fish-eye disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	3195710	\N	\N	EFO	5	EFO	genetic disorder	Fish-eye disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	3195711	\N	\N	EFO	5	EFO	eye disease	Fish-eye disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	4401496	\N	\N	EFO	6	EFO	genetic disorder	Fish-eye disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	4401497	\N	\N	EFO	6	EFO	endocrine system disease	Fish-eye disease
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	4401498	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Fish-eye disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	6410347	\N	\N	EFO	9	EFO	disposition	Fish-eye disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	4401501	\N	\N	EFO	6	EFO	disease	Fish-eye disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	5417817	\N	\N	EFO	7	EFO	disease	Fish-eye disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	5417818	\N	\N	EFO	7	EFO	genetic disorder	Fish-eye disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	5417819	\N	\N	EFO	7	EFO	metabolic disease	Fish-eye disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	6808159	\N	\N	EFO	10	EFO	material property	Fish-eye disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	6152647	\N	\N	EFO	8	EFO	disease	Fish-eye disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79292	"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." []	7048798	\N	\N	EFO	11	EFO	experimental factor	Fish-eye disease
Orphanet:79293	\N	\N	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	77975	\N	\N	EFO	0	EFO	Familial LCAT deficiency	Familial LCAT deficiency
Orphanet:182043	Orphanet:79293	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	222357	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia	Familial LCAT deficiency
Orphanet:650	Orphanet:79293	\N	"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	222358	\N	\N	EFO	1	EFO	LCAT deficiency	Familial LCAT deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	578533	\N	\N	EFO	2	EFO	Rare constitutional anemia	Familial LCAT deficiency
Orphanet:31153	Orphanet:650	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	578534	\N	\N	EFO	2	EFO	Hypoalphalipoproteinemia	Familial LCAT deficiency
Orphanet:93593	Orphanet:650	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	578535	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Familial LCAT deficiency
Orphanet:98711	Orphanet:650	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	578536	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Familial LCAT deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	1162081	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Familial LCAT deficiency
Orphanet:181431	Orphanet:31153	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	1162082	\N	\N	EFO	3	EFO	Rare hypolipidemia	Familial LCAT deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	1162083	\N	\N	EFO	3	EFO	Rare genetic renal disease	Familial LCAT deficiency
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	1162084	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Familial LCAT deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	2045639	\N	\N	EFO	4	EFO	genetic disorder	Familial LCAT deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	2045640	\N	\N	EFO	4	EFO	hematological system disease	Familial LCAT deficiency
Orphanet:101953	Orphanet:181431	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	2045641	\N	\N	EFO	4	EFO	Rare dyslipidemia	Familial LCAT deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	2045642	\N	\N	EFO	4	EFO	genetic disorder	Familial LCAT deficiency
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	2045643	\N	\N	EFO	4	EFO	Rare genetic eye disease	Familial LCAT deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	6152650	\N	\N	EFO	8	EFO	disease	Familial LCAT deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	3195713	\N	\N	EFO	5	EFO	disease	Familial LCAT deficiency
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	3195714	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Familial LCAT deficiency
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	3195715	\N	\N	EFO	5	EFO	Disorder of lipid metabolism	Familial LCAT deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	3195716	\N	\N	EFO	5	EFO	genetic disorder	Familial LCAT deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	3195717	\N	\N	EFO	5	EFO	eye disease	Familial LCAT deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	6410348	\N	\N	EFO	9	EFO	disposition	Familial LCAT deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	4401503	\N	\N	EFO	6	EFO	genetic disorder	Familial LCAT deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	4401504	\N	\N	EFO	6	EFO	endocrine system disease	Familial LCAT deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	4401505	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Familial LCAT deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	4401507	\N	\N	EFO	6	EFO	disease	Familial LCAT deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	6808160	\N	\N	EFO	10	EFO	material property	Familial LCAT deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	5417823	\N	\N	EFO	7	EFO	disease	Familial LCAT deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	5417824	\N	\N	EFO	7	EFO	genetic disorder	Familial LCAT deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	5417825	\N	\N	EFO	7	EFO	metabolic disease	Familial LCAT deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	7048799	\N	\N	EFO	11	EFO	experimental factor	Familial LCAT deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79293	"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." []	6152651	\N	\N	EFO	8	EFO	disease	Familial LCAT deficiency
Orphanet:79298	\N	\N	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	77976	\N	\N	EFO	0	EFO	Diazoxide-resistant focal hyperinsulinism	Diazoxide-resistant focal hyperinsulinism
Orphanet:276585	Orphanet:79298	\N	"" []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	222359	\N	\N	EFO	1	EFO	Diazoxide-resistant hyperinsulinism	Diazoxide-resistant focal hyperinsulinism
Orphanet:657	Orphanet:276585	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	578537	\N	\N	EFO	2	EFO	Congenital isolated hyperinsulinism	Diazoxide-resistant focal hyperinsulinism
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	1162085	\N	\N	EFO	3	EFO	Familial hyperinsulinism	Diazoxide-resistant focal hyperinsulinism
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	1162086	\N	\N	EFO	3	EFO	Overgrowth syndrome	Diazoxide-resistant focal hyperinsulinism
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	2045644	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Diazoxide-resistant focal hyperinsulinism
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	2045645	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Diazoxide-resistant focal hyperinsulinism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	3195718	\N	\N	EFO	5	EFO	genetic disorder	Diazoxide-resistant focal hyperinsulinism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	3195719	\N	\N	EFO	5	EFO	endocrine system disease	Diazoxide-resistant focal hyperinsulinism
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	3195720	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Diazoxide-resistant focal hyperinsulinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	5417827	\N	\N	EFO	7	EFO	disease	Diazoxide-resistant focal hyperinsulinism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	4401509	\N	\N	EFO	6	EFO	disease	Diazoxide-resistant focal hyperinsulinism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	4401510	\N	\N	EFO	6	EFO	genetic disorder	Diazoxide-resistant focal hyperinsulinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	5998643	\N	\N	EFO	8	EFO	disposition	Diazoxide-resistant focal hyperinsulinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	6551705	\N	\N	EFO	9	EFO	material property	Diazoxide-resistant focal hyperinsulinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79298	"Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." []	6889521	\N	\N	EFO	10	EFO	experimental factor	Diazoxide-resistant focal hyperinsulinism
Orphanet:79299	\N	\N	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	77977	\N	\N	EFO	0	EFO	Hyperinsulinism due to glucokinase deficiency	Hyperinsulinism due to glucokinase deficiency
Orphanet:165985	Orphanet:79299	\N	"" []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	222360	\N	\N	EFO	1	EFO	Diazoxide-sensitive diffuse hyperinsulinism	Hyperinsulinism due to glucokinase deficiency
Orphanet:308459	Orphanet:79299	\N	"" []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	222361	\N	\N	EFO	1	EFO	Disorder of glycolysis	Hyperinsulinism due to glucokinase deficiency
Orphanet:657	Orphanet:165985	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	578538	\N	\N	EFO	2	EFO	Congenital isolated hyperinsulinism	Hyperinsulinism due to glucokinase deficiency
Orphanet:79161	Orphanet:308459	\N	"" []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	578539	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Hyperinsulinism due to glucokinase deficiency
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	1162087	\N	\N	EFO	3	EFO	Familial hyperinsulinism	Hyperinsulinism due to glucokinase deficiency
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	1162088	\N	\N	EFO	3	EFO	Overgrowth syndrome	Hyperinsulinism due to glucokinase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	1162089	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hyperinsulinism due to glucokinase deficiency
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	2045646	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hyperinsulinism due to glucokinase deficiency
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	2045647	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Hyperinsulinism due to glucokinase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	2045648	\N	\N	EFO	4	EFO	genetic disorder	Hyperinsulinism due to glucokinase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	2045649	\N	\N	EFO	4	EFO	metabolic disease	Hyperinsulinism due to glucokinase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	3195721	\N	\N	EFO	5	EFO	genetic disorder	Hyperinsulinism due to glucokinase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	3195722	\N	\N	EFO	5	EFO	endocrine system disease	Hyperinsulinism due to glucokinase deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	3195723	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hyperinsulinism due to glucokinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	5417828	\N	\N	EFO	7	EFO	disease	Hyperinsulinism due to glucokinase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	3195725	\N	\N	EFO	5	EFO	disease	Hyperinsulinism due to glucokinase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	4401512	\N	\N	EFO	6	EFO	disease	Hyperinsulinism due to glucokinase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	4401513	\N	\N	EFO	6	EFO	genetic disorder	Hyperinsulinism due to glucokinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	5877725	\N	\N	EFO	8	EFO	disposition	Hyperinsulinism due to glucokinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	6470945	\N	\N	EFO	9	EFO	material property	Hyperinsulinism due to glucokinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79299	"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." []	6848794	\N	\N	EFO	10	EFO	experimental factor	Hyperinsulinism due to glucokinase deficiency
Orphanet:79301	\N	\N	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	77978	\N	\N	EFO	0	EFO	Congenital bile acid synthesis defect type 1	Congenital bile acid synthesis defect type 1
Orphanet:163631	Orphanet:79301	\N	"" []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	222362	\N	\N	EFO	1	EFO	Bile acid synthesis defect with cholestasis and malabsorption	Congenital bile acid synthesis defect type 1
Orphanet:284385	Orphanet:163631	\N	"" []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	578540	\N	\N	EFO	2	EFO	Familial intrahepatic cholestasis	Congenital bile acid synthesis defect type 1
Orphanet:79168	Orphanet:163631	\N	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	578541	\N	\N	EFO	2	EFO	Disorder of bile acid synthesis	Congenital bile acid synthesis defect type 1
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	1162090	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Congenital bile acid synthesis defect type 1
Orphanet:79226	Orphanet:79168	\N	"" []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	1162091	\N	\N	EFO	3	EFO	Sterol metabolism disorder	Congenital bile acid synthesis defect type 1
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	2045650	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Congenital bile acid synthesis defect type 1
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	2045651	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Congenital bile acid synthesis defect type 1
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	3195726	\N	\N	EFO	5	EFO	digestive system disease	Congenital bile acid synthesis defect type 1
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	3195727	\N	\N	EFO	5	EFO	genetic disorder	Congenital bile acid synthesis defect type 1
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	3195728	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Congenital bile acid synthesis defect type 1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	4401515	\N	\N	EFO	6	EFO	disease	Congenital bile acid synthesis defect type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	5417831	\N	\N	EFO	7	EFO	disease	Congenital bile acid synthesis defect type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	4401517	\N	\N	EFO	6	EFO	genetic disorder	Congenital bile acid synthesis defect type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	4401518	\N	\N	EFO	6	EFO	metabolic disease	Congenital bile acid synthesis defect type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	5998645	\N	\N	EFO	8	EFO	disposition	Congenital bile acid synthesis defect type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	5417832	\N	\N	EFO	7	EFO	disease	Congenital bile acid synthesis defect type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	6551707	\N	\N	EFO	9	EFO	material property	Congenital bile acid synthesis defect type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79301	"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption." []	6889522	\N	\N	EFO	10	EFO	experimental factor	Congenital bile acid synthesis defect type 1
Orphanet:79302	\N	\N	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	77979	\N	\N	EFO	0	EFO	Congenital bile acid synthesis defect type 3	Congenital bile acid synthesis defect type 3
Orphanet:163631	Orphanet:79302	\N	"" []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	222363	\N	\N	EFO	1	EFO	Bile acid synthesis defect with cholestasis and malabsorption	Congenital bile acid synthesis defect type 3
Orphanet:284385	Orphanet:163631	\N	"" []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	578542	\N	\N	EFO	2	EFO	Familial intrahepatic cholestasis	Congenital bile acid synthesis defect type 3
Orphanet:79168	Orphanet:163631	\N	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	578543	\N	\N	EFO	2	EFO	Disorder of bile acid synthesis	Congenital bile acid synthesis defect type 3
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	1162092	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Congenital bile acid synthesis defect type 3
Orphanet:79226	Orphanet:79168	\N	"" []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	1162093	\N	\N	EFO	3	EFO	Sterol metabolism disorder	Congenital bile acid synthesis defect type 3
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	2045652	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Congenital bile acid synthesis defect type 3
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	2045653	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Congenital bile acid synthesis defect type 3
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	3195729	\N	\N	EFO	5	EFO	digestive system disease	Congenital bile acid synthesis defect type 3
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	3195730	\N	\N	EFO	5	EFO	genetic disorder	Congenital bile acid synthesis defect type 3
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	3195731	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Congenital bile acid synthesis defect type 3
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	4401519	\N	\N	EFO	6	EFO	disease	Congenital bile acid synthesis defect type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	5417834	\N	\N	EFO	7	EFO	disease	Congenital bile acid synthesis defect type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	4401521	\N	\N	EFO	6	EFO	genetic disorder	Congenital bile acid synthesis defect type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	4401522	\N	\N	EFO	6	EFO	metabolic disease	Congenital bile acid synthesis defect type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	5998646	\N	\N	EFO	8	EFO	disposition	Congenital bile acid synthesis defect type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	5417835	\N	\N	EFO	7	EFO	disease	Congenital bile acid synthesis defect type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	6551708	\N	\N	EFO	9	EFO	material property	Congenital bile acid synthesis defect type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79302	"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." []	6889523	\N	\N	EFO	10	EFO	experimental factor	Congenital bile acid synthesis defect type 3
Orphanet:79303	\N	\N	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	77980	\N	\N	EFO	0	EFO	Congenital bile acid synthesis defect type 2	Congenital bile acid synthesis defect type 2
Orphanet:163631	Orphanet:79303	\N	"" []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	222364	\N	\N	EFO	1	EFO	Bile acid synthesis defect with cholestasis and malabsorption	Congenital bile acid synthesis defect type 2
Orphanet:284385	Orphanet:163631	\N	"" []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	578544	\N	\N	EFO	2	EFO	Familial intrahepatic cholestasis	Congenital bile acid synthesis defect type 2
Orphanet:79168	Orphanet:163631	\N	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	578545	\N	\N	EFO	2	EFO	Disorder of bile acid synthesis	Congenital bile acid synthesis defect type 2
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	1162094	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Congenital bile acid synthesis defect type 2
Orphanet:79226	Orphanet:79168	\N	"" []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	1162095	\N	\N	EFO	3	EFO	Sterol metabolism disorder	Congenital bile acid synthesis defect type 2
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	2045654	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Congenital bile acid synthesis defect type 2
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	2045655	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Congenital bile acid synthesis defect type 2
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	3195732	\N	\N	EFO	5	EFO	digestive system disease	Congenital bile acid synthesis defect type 2
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	3195733	\N	\N	EFO	5	EFO	genetic disorder	Congenital bile acid synthesis defect type 2
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	3195734	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Congenital bile acid synthesis defect type 2
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	4401523	\N	\N	EFO	6	EFO	disease	Congenital bile acid synthesis defect type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	5417837	\N	\N	EFO	7	EFO	disease	Congenital bile acid synthesis defect type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	4401525	\N	\N	EFO	6	EFO	genetic disorder	Congenital bile acid synthesis defect type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	4401526	\N	\N	EFO	6	EFO	metabolic disease	Congenital bile acid synthesis defect type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	5998647	\N	\N	EFO	8	EFO	disposition	Congenital bile acid synthesis defect type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	5417838	\N	\N	EFO	7	EFO	disease	Congenital bile acid synthesis defect type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	6551709	\N	\N	EFO	9	EFO	material property	Congenital bile acid synthesis defect type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79303	"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." []	6889524	\N	\N	EFO	10	EFO	experimental factor	Congenital bile acid synthesis defect type 2
Orphanet:79304	\N	\N	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	77981	\N	\N	EFO	0	EFO	Progressive familial intrahepatic cholestasis type 2	Progressive familial intrahepatic cholestasis type 2
Orphanet:172	Orphanet:79304	\N	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	222365	\N	\N	EFO	1	EFO	Progressive familial intrahepatic cholestasis	Progressive familial intrahepatic cholestasis type 2
Orphanet:284385	Orphanet:172	\N	"" []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	578546	\N	\N	EFO	2	EFO	Familial intrahepatic cholestasis	Progressive familial intrahepatic cholestasis type 2
Orphanet:309816	Orphanet:172	\N	"" []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	578547	\N	\N	EFO	2	EFO	Disorder of bilirubin metabolism and excretion	Progressive familial intrahepatic cholestasis type 2
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	1162096	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Progressive familial intrahepatic cholestasis type 2
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	1162097	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Progressive familial intrahepatic cholestasis type 2
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	2045656	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Progressive familial intrahepatic cholestasis type 2
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	2045657	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Progressive familial intrahepatic cholestasis type 2
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	3195735	\N	\N	EFO	5	EFO	digestive system disease	Progressive familial intrahepatic cholestasis type 2
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	3195736	\N	\N	EFO	5	EFO	genetic disorder	Progressive familial intrahepatic cholestasis type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	3195737	\N	\N	EFO	5	EFO	genetic disorder	Progressive familial intrahepatic cholestasis type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	3195738	\N	\N	EFO	5	EFO	metabolic disease	Progressive familial intrahepatic cholestasis type 2
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	4401527	\N	\N	EFO	6	EFO	disease	Progressive familial intrahepatic cholestasis type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	4401528	\N	\N	EFO	6	EFO	disease	Progressive familial intrahepatic cholestasis type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	4401529	\N	\N	EFO	6	EFO	disease	Progressive familial intrahepatic cholestasis type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	5417839	\N	\N	EFO	7	EFO	disposition	Progressive familial intrahepatic cholestasis type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	6152657	\N	\N	EFO	8	EFO	material property	Progressive familial intrahepatic cholestasis type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79304	"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." []	6634125	\N	\N	EFO	9	EFO	experimental factor	Progressive familial intrahepatic cholestasis type 2
Orphanet:79305	\N	\N	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	77982	\N	\N	EFO	0	EFO	Progressive familial intrahepatic cholestasis type 3	Progressive familial intrahepatic cholestasis type 3
Orphanet:172	Orphanet:79305	\N	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	222366	\N	\N	EFO	1	EFO	Progressive familial intrahepatic cholestasis	Progressive familial intrahepatic cholestasis type 3
Orphanet:284385	Orphanet:172	\N	"" []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	578548	\N	\N	EFO	2	EFO	Familial intrahepatic cholestasis	Progressive familial intrahepatic cholestasis type 3
Orphanet:309816	Orphanet:172	\N	"" []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	578549	\N	\N	EFO	2	EFO	Disorder of bilirubin metabolism and excretion	Progressive familial intrahepatic cholestasis type 3
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	1162098	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Progressive familial intrahepatic cholestasis type 3
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	1162099	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Progressive familial intrahepatic cholestasis type 3
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	2045658	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Progressive familial intrahepatic cholestasis type 3
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	2045659	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Progressive familial intrahepatic cholestasis type 3
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	3195739	\N	\N	EFO	5	EFO	digestive system disease	Progressive familial intrahepatic cholestasis type 3
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	3195740	\N	\N	EFO	5	EFO	genetic disorder	Progressive familial intrahepatic cholestasis type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	3195741	\N	\N	EFO	5	EFO	genetic disorder	Progressive familial intrahepatic cholestasis type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	3195742	\N	\N	EFO	5	EFO	metabolic disease	Progressive familial intrahepatic cholestasis type 3
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	4401530	\N	\N	EFO	6	EFO	disease	Progressive familial intrahepatic cholestasis type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	4401531	\N	\N	EFO	6	EFO	disease	Progressive familial intrahepatic cholestasis type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	4401532	\N	\N	EFO	6	EFO	disease	Progressive familial intrahepatic cholestasis type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	5417840	\N	\N	EFO	7	EFO	disposition	Progressive familial intrahepatic cholestasis type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	6152658	\N	\N	EFO	8	EFO	material property	Progressive familial intrahepatic cholestasis type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79305	"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." []	6634126	\N	\N	EFO	9	EFO	experimental factor	Progressive familial intrahepatic cholestasis type 3
Orphanet:79306	\N	\N	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	77983	\N	\N	EFO	0	EFO	Progressive familial intrahepatic cholestasis type 1	Progressive familial intrahepatic cholestasis type 1
Orphanet:172	Orphanet:79306	\N	"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	222367	\N	\N	EFO	1	EFO	Progressive familial intrahepatic cholestasis	Progressive familial intrahepatic cholestasis type 1
Orphanet:284385	Orphanet:172	\N	"" []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	578550	\N	\N	EFO	2	EFO	Familial intrahepatic cholestasis	Progressive familial intrahepatic cholestasis type 1
Orphanet:309816	Orphanet:172	\N	"" []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	578551	\N	\N	EFO	2	EFO	Disorder of bilirubin metabolism and excretion	Progressive familial intrahepatic cholestasis type 1
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	1162100	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Progressive familial intrahepatic cholestasis type 1
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	1162101	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Progressive familial intrahepatic cholestasis type 1
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	2045660	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Progressive familial intrahepatic cholestasis type 1
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	2045661	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Progressive familial intrahepatic cholestasis type 1
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	3195743	\N	\N	EFO	5	EFO	digestive system disease	Progressive familial intrahepatic cholestasis type 1
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	3195744	\N	\N	EFO	5	EFO	genetic disorder	Progressive familial intrahepatic cholestasis type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	3195745	\N	\N	EFO	5	EFO	genetic disorder	Progressive familial intrahepatic cholestasis type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	3195746	\N	\N	EFO	5	EFO	metabolic disease	Progressive familial intrahepatic cholestasis type 1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	4401533	\N	\N	EFO	6	EFO	disease	Progressive familial intrahepatic cholestasis type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	4401534	\N	\N	EFO	6	EFO	disease	Progressive familial intrahepatic cholestasis type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	4401535	\N	\N	EFO	6	EFO	disease	Progressive familial intrahepatic cholestasis type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	5417841	\N	\N	EFO	7	EFO	disposition	Progressive familial intrahepatic cholestasis type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	6152659	\N	\N	EFO	8	EFO	material property	Progressive familial intrahepatic cholestasis type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79306	"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." []	6634127	\N	\N	EFO	9	EFO	experimental factor	Progressive familial intrahepatic cholestasis type 1
Orphanet:79310	\N	\N	"" []	Orphanet:79310	"" []	77984	\N	\N	EFO	0	EFO	Vitamin B12-responsive methylmalonic acidemia type cblA	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:28	Orphanet:79310	\N	"v2)." []	Orphanet:79310	"" []	222368	\N	\N	EFO	1	EFO	Vitamin B12-responsive methylmalonic acidemia	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:293355	Orphanet:28	\N	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	Orphanet:79310	"" []	578552	\N	\N	EFO	2	EFO	Methylmalonic acidemia without homocystinuria	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:79171	Orphanet:28	\N	"" []	Orphanet:79310	"" []	578553	\N	\N	EFO	2	EFO	Disorder of cobalamin metabolism and transport	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:93593	Orphanet:28	\N	"" []	Orphanet:79310	"" []	578554	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:79163	Orphanet:293355	\N	"" []	Orphanet:79310	"" []	1162102	\N	\N	EFO	3	EFO	Classic organic aciduria	Vitamin B12-responsive methylmalonic acidemia type cblA
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:79310	"" []	1162103	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:79310	"" []	1162104	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79310	"" []	1162105	\N	\N	EFO	3	EFO	Rare genetic renal disease	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:79310	"" []	2045662	\N	\N	EFO	4	EFO	Organic aciduria	Vitamin B12-responsive methylmalonic acidemia type cblA
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79310	"" []	2045663	\N	\N	EFO	4	EFO	metabolic disease	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:79310	"" []	2045664	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Vitamin B12-responsive methylmalonic acidemia type cblA
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79310	"" []	2045665	\N	\N	EFO	4	EFO	genetic disorder	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79310	"" []	3195747	\N	\N	EFO	5	EFO	Disorder of amino acid and other organic acid metabolism	Vitamin B12-responsive methylmalonic acidemia type cblA
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79310	"" []	5998649	\N	\N	EFO	8	EFO	disease	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:79310	"" []	3195749	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Vitamin B12-responsive methylmalonic acidemia type cblA
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79310	"" []	5998648	\N	\N	EFO	8	EFO	disease	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79310	"" []	4401536	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Vitamin B12-responsive methylmalonic acidemia type cblA
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79310	"" []	6410349	\N	\N	EFO	9	EFO	disposition	Vitamin B12-responsive methylmalonic acidemia type cblA
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79310	"" []	5417842	\N	\N	EFO	7	EFO	genetic disorder	Vitamin B12-responsive methylmalonic acidemia type cblA
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79310	"" []	5417843	\N	\N	EFO	7	EFO	metabolic disease	Vitamin B12-responsive methylmalonic acidemia type cblA
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79310	"" []	6808161	\N	\N	EFO	10	EFO	material property	Vitamin B12-responsive methylmalonic acidemia type cblA
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79310	"" []	7048800	\N	\N	EFO	11	EFO	experimental factor	Vitamin B12-responsive methylmalonic acidemia type cblA
Orphanet:79311	\N	\N	"" []	Orphanet:79311	"" []	77985	\N	\N	EFO	0	EFO	Vitamin B12-responsive methylmalonic acidemia type cblB	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:28	Orphanet:79311	\N	"v2)." []	Orphanet:79311	"" []	222369	\N	\N	EFO	1	EFO	Vitamin B12-responsive methylmalonic acidemia	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:293355	Orphanet:28	\N	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	Orphanet:79311	"" []	578555	\N	\N	EFO	2	EFO	Methylmalonic acidemia without homocystinuria	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:79171	Orphanet:28	\N	"" []	Orphanet:79311	"" []	578556	\N	\N	EFO	2	EFO	Disorder of cobalamin metabolism and transport	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:93593	Orphanet:28	\N	"" []	Orphanet:79311	"" []	578557	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:79163	Orphanet:293355	\N	"" []	Orphanet:79311	"" []	1162106	\N	\N	EFO	3	EFO	Classic organic aciduria	Vitamin B12-responsive methylmalonic acidemia type cblB
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:79311	"" []	1162107	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:79311	"" []	1162108	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79311	"" []	1162109	\N	\N	EFO	3	EFO	Rare genetic renal disease	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:79311	"" []	2045666	\N	\N	EFO	4	EFO	Organic aciduria	Vitamin B12-responsive methylmalonic acidemia type cblB
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79311	"" []	2045667	\N	\N	EFO	4	EFO	metabolic disease	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:79311	"" []	2045668	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Vitamin B12-responsive methylmalonic acidemia type cblB
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79311	"" []	2045669	\N	\N	EFO	4	EFO	genetic disorder	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79311	"" []	3195751	\N	\N	EFO	5	EFO	Disorder of amino acid and other organic acid metabolism	Vitamin B12-responsive methylmalonic acidemia type cblB
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79311	"" []	5998651	\N	\N	EFO	8	EFO	disease	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:79311	"" []	3195753	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Vitamin B12-responsive methylmalonic acidemia type cblB
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79311	"" []	5998650	\N	\N	EFO	8	EFO	disease	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79311	"" []	4401540	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Vitamin B12-responsive methylmalonic acidemia type cblB
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79311	"" []	6410350	\N	\N	EFO	9	EFO	disposition	Vitamin B12-responsive methylmalonic acidemia type cblB
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79311	"" []	5417847	\N	\N	EFO	7	EFO	genetic disorder	Vitamin B12-responsive methylmalonic acidemia type cblB
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79311	"" []	5417848	\N	\N	EFO	7	EFO	metabolic disease	Vitamin B12-responsive methylmalonic acidemia type cblB
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79311	"" []	6808162	\N	\N	EFO	10	EFO	material property	Vitamin B12-responsive methylmalonic acidemia type cblB
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79311	"" []	7048801	\N	\N	EFO	11	EFO	experimental factor	Vitamin B12-responsive methylmalonic acidemia type cblB
Orphanet:79312	\N	\N	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	77986	\N	\N	EFO	0	EFO	Vitamin B12-unresponsive methylmalonic acidemia type mut-	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:27	Orphanet:79312	\N	" (see these terms)." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	222370	\N	\N	EFO	1	EFO	Vitamin B12-unresponsive methylmalonic acidemia	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:28	Orphanet:79312	\N	"v2)." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	222371	\N	\N	EFO	1	EFO	Vitamin B12-responsive methylmalonic acidemia	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:293355	Orphanet:27	\N	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	578558	\N	\N	EFO	2	EFO	Methylmalonic acidemia without homocystinuria	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:93593	Orphanet:27	\N	"" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	578559	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:293355	Orphanet:28	\N	"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	578560	\N	\N	EFO	2	EFO	Methylmalonic acidemia without homocystinuria	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:79171	Orphanet:28	\N	"" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	578561	\N	\N	EFO	2	EFO	Disorder of cobalamin metabolism and transport	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:93593	Orphanet:28	\N	"" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	578562	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:79163	Orphanet:293355	\N	"" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	1162110	\N	\N	EFO	3	EFO	Classic organic aciduria	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	1162111	\N	\N	EFO	3	EFO	Rare genetic renal disease	Vitamin B12-unresponsive methylmalonic acidemia type mut-
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	1162112	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	1162113	\N	\N	EFO	3	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	2045670	\N	\N	EFO	4	EFO	Organic aciduria	Vitamin B12-unresponsive methylmalonic acidemia type mut-
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	2045671	\N	\N	EFO	4	EFO	genetic disorder	Vitamin B12-unresponsive methylmalonic acidemia type mut-
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	2045672	\N	\N	EFO	4	EFO	metabolic disease	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	2045673	\N	\N	EFO	4	EFO	Disorder of metabolite absorption and transport	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	3195755	\N	\N	EFO	5	EFO	Disorder of amino acid and other organic acid metabolism	Vitamin B12-unresponsive methylmalonic acidemia type mut-
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	5998652	\N	\N	EFO	8	EFO	disease	Vitamin B12-unresponsive methylmalonic acidemia type mut-
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	5998653	\N	\N	EFO	8	EFO	disease	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	3195758	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	4401544	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Vitamin B12-unresponsive methylmalonic acidemia type mut-
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	6410351	\N	\N	EFO	9	EFO	disposition	Vitamin B12-unresponsive methylmalonic acidemia type mut-
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	5417852	\N	\N	EFO	7	EFO	genetic disorder	Vitamin B12-unresponsive methylmalonic acidemia type mut-
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	5417853	\N	\N	EFO	7	EFO	metabolic disease	Vitamin B12-unresponsive methylmalonic acidemia type mut-
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	6808163	\N	\N	EFO	10	EFO	material property	Vitamin B12-unresponsive methylmalonic acidemia type mut-
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79312	"Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." []	7048802	\N	\N	EFO	11	EFO	experimental factor	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:79314	\N	\N	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	77987	\N	\N	EFO	0	EFO	L-2-hydroxyglutaric aciduria	L-2-hydroxyglutaric aciduria
Orphanet:19	Orphanet:79314	\N	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	222372	\N	\N	EFO	1	EFO	2-hydroxyglutaric aciduria	L-2-hydroxyglutaric aciduria
Orphanet:68385	Orphanet:19	\N	"" []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	578563	\N	\N	EFO	2	EFO	Neurometabolic disease	L-2-hydroxyglutaric aciduria
Orphanet:79158	Orphanet:19	\N	"" []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	578564	\N	\N	EFO	2	EFO	Cerebral organic aciduria	L-2-hydroxyglutaric aciduria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	1162114	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	L-2-hydroxyglutaric aciduria
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	1162115	\N	\N	EFO	3	EFO	Organic aciduria	L-2-hydroxyglutaric aciduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	2045674	\N	\N	EFO	4	EFO	genetic disorder	L-2-hydroxyglutaric aciduria
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	2045675	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	L-2-hydroxyglutaric aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	5417858	\N	\N	EFO	7	EFO	disease	L-2-hydroxyglutaric aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	3195760	\N	\N	EFO	5	EFO	Inborn errors of metabolism	L-2-hydroxyglutaric aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	5877729	\N	\N	EFO	8	EFO	disposition	L-2-hydroxyglutaric aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	4401549	\N	\N	EFO	6	EFO	genetic disorder	L-2-hydroxyglutaric aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	4401550	\N	\N	EFO	6	EFO	metabolic disease	L-2-hydroxyglutaric aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	6470949	\N	\N	EFO	9	EFO	material property	L-2-hydroxyglutaric aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	5417859	\N	\N	EFO	7	EFO	disease	L-2-hydroxyglutaric aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79314	"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." []	6848798	\N	\N	EFO	10	EFO	experimental factor	L-2-hydroxyglutaric aciduria
Orphanet:79315	\N	\N	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	77988	\N	\N	EFO	0	EFO	D-2-hydroxyglutaric aciduria	D-2-hydroxyglutaric aciduria
Orphanet:19	Orphanet:79315	\N	"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	222373	\N	\N	EFO	1	EFO	2-hydroxyglutaric aciduria	D-2-hydroxyglutaric aciduria
Orphanet:68385	Orphanet:19	\N	"" []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	578565	\N	\N	EFO	2	EFO	Neurometabolic disease	D-2-hydroxyglutaric aciduria
Orphanet:79158	Orphanet:19	\N	"" []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	578566	\N	\N	EFO	2	EFO	Cerebral organic aciduria	D-2-hydroxyglutaric aciduria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	1162116	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	D-2-hydroxyglutaric aciduria
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	1162117	\N	\N	EFO	3	EFO	Organic aciduria	D-2-hydroxyglutaric aciduria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	2045676	\N	\N	EFO	4	EFO	genetic disorder	D-2-hydroxyglutaric aciduria
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	2045677	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	D-2-hydroxyglutaric aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	5417861	\N	\N	EFO	7	EFO	disease	D-2-hydroxyglutaric aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	3195762	\N	\N	EFO	5	EFO	Inborn errors of metabolism	D-2-hydroxyglutaric aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	5877730	\N	\N	EFO	8	EFO	disposition	D-2-hydroxyglutaric aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	4401552	\N	\N	EFO	6	EFO	genetic disorder	D-2-hydroxyglutaric aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	4401553	\N	\N	EFO	6	EFO	metabolic disease	D-2-hydroxyglutaric aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	6470950	\N	\N	EFO	9	EFO	material property	D-2-hydroxyglutaric aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	5417862	\N	\N	EFO	7	EFO	disease	D-2-hydroxyglutaric aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79315	"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." []	6848799	\N	\N	EFO	10	EFO	experimental factor	D-2-hydroxyglutaric aciduria
Orphanet:79316	\N	\N	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	Orphanet:79316	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	77989	\N	\N	EFO	0	EFO	Phosphoenolpyruvate carboxykinase 1 deficiency	Phosphoenolpyruvate carboxykinase 1 deficiency
Orphanet:2880	Orphanet:79316	\N	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	Orphanet:79316	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	222374	\N	\N	EFO	1	EFO	Phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase 1 deficiency
Orphanet:79177	Orphanet:2880	\N	"" []	Orphanet:79316	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	578567	\N	\N	EFO	2	EFO	Gluconeogenesis disorder	Phosphoenolpyruvate carboxykinase 1 deficiency
Orphanet:79161	Orphanet:79177	\N	"" []	Orphanet:79316	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	1162118	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Phosphoenolpyruvate carboxykinase 1 deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79316	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	2045678	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Phosphoenolpyruvate carboxykinase 1 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79316	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	3195763	\N	\N	EFO	5	EFO	genetic disorder	Phosphoenolpyruvate carboxykinase 1 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79316	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	3195764	\N	\N	EFO	5	EFO	metabolic disease	Phosphoenolpyruvate carboxykinase 1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79316	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	4401554	\N	\N	EFO	6	EFO	disease	Phosphoenolpyruvate carboxykinase 1 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79316	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	4401555	\N	\N	EFO	6	EFO	disease	Phosphoenolpyruvate carboxykinase 1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79316	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	5417863	\N	\N	EFO	7	EFO	disposition	Phosphoenolpyruvate carboxykinase 1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79316	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	6152665	\N	\N	EFO	8	EFO	material property	Phosphoenolpyruvate carboxykinase 1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79316	"Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found." []	6634128	\N	\N	EFO	9	EFO	experimental factor	Phosphoenolpyruvate carboxykinase 1 deficiency
Orphanet:79317	\N	\N	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	Orphanet:79317	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	77990	\N	\N	EFO	0	EFO	Phosphoenolpyruvate carboxykinase 2 deficiency	Phosphoenolpyruvate carboxykinase 2 deficiency
Orphanet:2880	Orphanet:79317	\N	"Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay." []	Orphanet:79317	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	222375	\N	\N	EFO	1	EFO	Phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase 2 deficiency
Orphanet:79177	Orphanet:2880	\N	"" []	Orphanet:79317	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	578568	\N	\N	EFO	2	EFO	Gluconeogenesis disorder	Phosphoenolpyruvate carboxykinase 2 deficiency
Orphanet:79161	Orphanet:79177	\N	"" []	Orphanet:79317	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	1162119	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Phosphoenolpyruvate carboxykinase 2 deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:79317	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	2045679	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Phosphoenolpyruvate carboxykinase 2 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79317	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	3195765	\N	\N	EFO	5	EFO	genetic disorder	Phosphoenolpyruvate carboxykinase 2 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79317	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	3195766	\N	\N	EFO	5	EFO	metabolic disease	Phosphoenolpyruvate carboxykinase 2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79317	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	4401556	\N	\N	EFO	6	EFO	disease	Phosphoenolpyruvate carboxykinase 2 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79317	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	4401557	\N	\N	EFO	6	EFO	disease	Phosphoenolpyruvate carboxykinase 2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79317	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	5417864	\N	\N	EFO	7	EFO	disposition	Phosphoenolpyruvate carboxykinase 2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79317	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	6152666	\N	\N	EFO	8	EFO	material property	Phosphoenolpyruvate carboxykinase 2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79317	"Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema." []	6634129	\N	\N	EFO	9	EFO	experimental factor	Phosphoenolpyruvate carboxykinase 2 deficiency
Orphanet:79318	\N	\N	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	77991	\N	\N	EFO	0	EFO	PMM2-CDG	PMM2-CDG
Orphanet:309347	Orphanet:79318	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	222376	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	PMM2-CDG
Orphanet:371064	Orphanet:79318	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	222377	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	PMM2-CDG
Orphanet:371071	Orphanet:79318	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	222378	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	PMM2-CDG
Orphanet:371157	Orphanet:79318	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	222379	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	PMM2-CDG
Orphanet:371200	Orphanet:79318	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	222380	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	PMM2-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	578569	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	PMM2-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	578570	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	PMM2-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	578571	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	PMM2-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	578572	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	PMM2-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	578573	\N	\N	EFO	2	EFO	Rare metabolic liver disease	PMM2-CDG
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	578574	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	PMM2-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	1162120	\N	\N	EFO	3	EFO	Inborn errors of metabolism	PMM2-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	1162121	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	PMM2-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	1162122	\N	\N	EFO	3	EFO	Neurometabolic disease	PMM2-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	1162123	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	PMM2-CDG
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	1162124	\N	\N	EFO	3	EFO	Rare genetic skin disease	PMM2-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	2045680	\N	\N	EFO	4	EFO	genetic disorder	PMM2-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	2045681	\N	\N	EFO	4	EFO	metabolic disease	PMM2-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	2045682	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	PMM2-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	2045683	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	PMM2-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	2045684	\N	\N	EFO	4	EFO	digestive system disease	PMM2-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	2045685	\N	\N	EFO	4	EFO	genetic disorder	PMM2-CDG
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	2045686	\N	\N	EFO	4	EFO	genetic disorder	PMM2-CDG
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	2045687	\N	\N	EFO	4	EFO	skin disease	PMM2-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	5183308	\N	\N	EFO	7	EFO	disease	PMM2-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	3195768	\N	\N	EFO	5	EFO	disease	PMM2-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	3195769	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	PMM2-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	4401559	\N	\N	EFO	6	EFO	genetic disorder	PMM2-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	3195771	\N	\N	EFO	5	EFO	disease	PMM2-CDG
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	3195772	\N	\N	EFO	5	EFO	disease	PMM2-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	5877731	\N	\N	EFO	8	EFO	disposition	PMM2-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	6470951	\N	\N	EFO	9	EFO	material property	PMM2-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79318	"Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." []	6848800	\N	\N	EFO	10	EFO	experimental factor	PMM2-CDG
Orphanet:79319	\N	\N	"" []	Orphanet:79319	"" []	77992	\N	\N	EFO	0	EFO	MPI-CDG	MPI-CDG
Orphanet:309347	Orphanet:79319	\N	"" []	Orphanet:79319	"" []	222381	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	MPI-CDG
Orphanet:371157	Orphanet:79319	\N	"" []	Orphanet:79319	"" []	222382	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	MPI-CDG
Orphanet:371188	Orphanet:79319	\N	"" []	Orphanet:79319	"" []	222383	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with intestinal involvement	MPI-CDG
Orphanet:89832	Orphanet:79319	\N	"" []	Orphanet:79319	"" []	222384	\N	\N	EFO	1	EFO	Syndromic lymphedema	MPI-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:79319	"" []	578575	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	MPI-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:79319	"" []	578576	\N	\N	EFO	2	EFO	Rare metabolic liver disease	MPI-CDG
Orphanet:104013	Orphanet:371188	\N	"" []	Orphanet:79319	"" []	578577	\N	\N	EFO	2	EFO	Metabolic disease with intestinal involvement	MPI-CDG
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:79319	"" []	578578	\N	\N	EFO	2	EFO	Lymphedema	MPI-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79319	"" []	1162125	\N	\N	EFO	3	EFO	Inborn errors of metabolism	MPI-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79319	"" []	1162126	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	MPI-CDG
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:79319	"" []	1162127	\N	\N	EFO	3	EFO	Genetic intestinal disease	MPI-CDG
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:79319	"" []	1162128	\N	\N	EFO	3	EFO	Rare genetic skin disease	MPI-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79319	"" []	2045688	\N	\N	EFO	4	EFO	genetic disorder	MPI-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79319	"" []	2045689	\N	\N	EFO	4	EFO	metabolic disease	MPI-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79319	"" []	2045690	\N	\N	EFO	4	EFO	digestive system disease	MPI-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79319	"" []	2045691	\N	\N	EFO	4	EFO	genetic disorder	MPI-CDG
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79319	"" []	2045692	\N	\N	EFO	4	EFO	digestive system disease	MPI-CDG
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:79319	"" []	2045693	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	MPI-CDG
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79319	"" []	2045694	\N	\N	EFO	4	EFO	genetic disorder	MPI-CDG
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79319	"" []	2045695	\N	\N	EFO	4	EFO	skin disease	MPI-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79319	"" []	4401562	\N	\N	EFO	6	EFO	disease	MPI-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79319	"" []	3195774	\N	\N	EFO	5	EFO	disease	MPI-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79319	"" []	3195775	\N	\N	EFO	5	EFO	disease	MPI-CDG
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79319	"" []	3195776	\N	\N	EFO	5	EFO	genetic disorder	MPI-CDG
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79319	"" []	3195777	\N	\N	EFO	5	EFO	disease	MPI-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79319	"" []	5183309	\N	\N	EFO	7	EFO	disposition	MPI-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79319	"" []	5998655	\N	\N	EFO	8	EFO	material property	MPI-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79319	"" []	6551711	\N	\N	EFO	9	EFO	experimental factor	MPI-CDG
Orphanet:79320	\N	\N	"" []	Orphanet:79320	"" []	77993	\N	\N	EFO	0	EFO	ALG6-CDG	ALG6-CDG
Orphanet:309347	Orphanet:79320	\N	"" []	Orphanet:79320	"" []	222385	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	ALG6-CDG
Orphanet:371071	Orphanet:79320	\N	"" []	Orphanet:79320	"" []	222386	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	ALG6-CDG
Orphanet:371188	Orphanet:79320	\N	"" []	Orphanet:79320	"" []	222387	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with intestinal involvement	ALG6-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:79320	"" []	578579	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	ALG6-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:79320	"" []	578580	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ALG6-CDG
Orphanet:104013	Orphanet:371188	\N	"" []	Orphanet:79320	"" []	578581	\N	\N	EFO	2	EFO	Metabolic disease with intestinal involvement	ALG6-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79320	"" []	1162129	\N	\N	EFO	3	EFO	Inborn errors of metabolism	ALG6-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79320	"" []	1162130	\N	\N	EFO	3	EFO	Neurometabolic disease	ALG6-CDG
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:79320	"" []	1162131	\N	\N	EFO	3	EFO	Genetic intestinal disease	ALG6-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79320	"" []	2045696	\N	\N	EFO	4	EFO	genetic disorder	ALG6-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79320	"" []	2045697	\N	\N	EFO	4	EFO	metabolic disease	ALG6-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79320	"" []	2045698	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	ALG6-CDG
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79320	"" []	2045699	\N	\N	EFO	4	EFO	digestive system disease	ALG6-CDG
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:79320	"" []	2045700	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	ALG6-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79320	"" []	4401564	\N	\N	EFO	6	EFO	disease	ALG6-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79320	"" []	3195779	\N	\N	EFO	5	EFO	disease	ALG6-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79320	"" []	3195780	\N	\N	EFO	5	EFO	genetic disorder	ALG6-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79320	"" []	3195781	\N	\N	EFO	5	EFO	disease	ALG6-CDG
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79320	"" []	3195782	\N	\N	EFO	5	EFO	genetic disorder	ALG6-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79320	"" []	5183310	\N	\N	EFO	7	EFO	disposition	ALG6-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79320	"" []	5998656	\N	\N	EFO	8	EFO	material property	ALG6-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79320	"" []	6551712	\N	\N	EFO	9	EFO	experimental factor	ALG6-CDG
Orphanet:79321	\N	\N	"" []	Orphanet:79321	"" []	77994	\N	\N	EFO	0	EFO	ALG3-CDG	ALG3-CDG
Orphanet:309347	Orphanet:79321	\N	"" []	Orphanet:79321	"" []	222388	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	ALG3-CDG
Orphanet:371064	Orphanet:79321	\N	"" []	Orphanet:79321	"" []	222389	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	ALG3-CDG
Orphanet:371071	Orphanet:79321	\N	"" []	Orphanet:79321	"" []	222390	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	ALG3-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:79321	"" []	578582	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	ALG3-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:79321	"" []	578583	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	ALG3-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:79321	"" []	578584	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ALG3-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:79321	"" []	578585	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ALG3-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79321	"" []	1162132	\N	\N	EFO	3	EFO	Inborn errors of metabolism	ALG3-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:79321	"" []	1162133	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	ALG3-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79321	"" []	1162134	\N	\N	EFO	3	EFO	Neurometabolic disease	ALG3-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79321	"" []	2045701	\N	\N	EFO	4	EFO	genetic disorder	ALG3-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79321	"" []	2045702	\N	\N	EFO	4	EFO	metabolic disease	ALG3-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79321	"" []	2045703	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	ALG3-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79321	"" []	2045704	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	ALG3-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79321	"" []	5183312	\N	\N	EFO	7	EFO	disease	ALG3-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79321	"" []	3195784	\N	\N	EFO	5	EFO	disease	ALG3-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79321	"" []	3195785	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	ALG3-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79321	"" []	4401566	\N	\N	EFO	6	EFO	genetic disorder	ALG3-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79321	"" []	5877732	\N	\N	EFO	8	EFO	disposition	ALG3-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79321	"" []	6470952	\N	\N	EFO	9	EFO	material property	ALG3-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79321	"" []	6848801	\N	\N	EFO	10	EFO	experimental factor	ALG3-CDG
Orphanet:79322	\N	\N	"" []	Orphanet:79322	"" []	77995	\N	\N	EFO	0	EFO	DPM1-CDG	DPM1-CDG
Orphanet:309526	Orphanet:79322	\N	"" []	Orphanet:79322	"" []	222391	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	DPM1-CDG
Orphanet:371071	Orphanet:79322	\N	"" []	Orphanet:79322	"" []	222392	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	DPM1-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:79322	"" []	578586	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	DPM1-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:79322	"" []	578587	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	DPM1-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79322	"" []	1162135	\N	\N	EFO	3	EFO	Inborn errors of metabolism	DPM1-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79322	"" []	1162136	\N	\N	EFO	3	EFO	Neurometabolic disease	DPM1-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79322	"" []	2045705	\N	\N	EFO	4	EFO	genetic disorder	DPM1-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79322	"" []	2045706	\N	\N	EFO	4	EFO	metabolic disease	DPM1-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79322	"" []	2045707	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	DPM1-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79322	"" []	4401569	\N	\N	EFO	6	EFO	disease	DPM1-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79322	"" []	3195788	\N	\N	EFO	5	EFO	disease	DPM1-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79322	"" []	3195789	\N	\N	EFO	5	EFO	genetic disorder	DPM1-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79322	"" []	5183313	\N	\N	EFO	7	EFO	disposition	DPM1-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79322	"" []	5998658	\N	\N	EFO	8	EFO	material property	DPM1-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79322	"" []	6551714	\N	\N	EFO	9	EFO	experimental factor	DPM1-CDG
Orphanet:79323	\N	\N	"" []	Orphanet:79323	"" []	77996	\N	\N	EFO	0	EFO	MPDU1-CDG	MPDU1-CDG
Orphanet:309526	Orphanet:79323	\N	"" []	Orphanet:79323	"" []	222393	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	MPDU1-CDG
Orphanet:371064	Orphanet:79323	\N	"" []	Orphanet:79323	"" []	222394	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	MPDU1-CDG
Orphanet:371071	Orphanet:79323	\N	"" []	Orphanet:79323	"" []	222395	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	MPDU1-CDG
Orphanet:371200	Orphanet:79323	\N	"" []	Orphanet:79323	"" []	222396	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	MPDU1-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:79323	"" []	578588	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	MPDU1-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:79323	"" []	578589	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	MPDU1-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:79323	"" []	578590	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	MPDU1-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:79323	"" []	578591	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	MPDU1-CDG
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:79323	"" []	578592	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	MPDU1-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79323	"" []	1162137	\N	\N	EFO	3	EFO	Inborn errors of metabolism	MPDU1-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:79323	"" []	1162138	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	MPDU1-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79323	"" []	1162139	\N	\N	EFO	3	EFO	Neurometabolic disease	MPDU1-CDG
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79323	"" []	1162140	\N	\N	EFO	3	EFO	Rare genetic skin disease	MPDU1-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79323	"" []	2045708	\N	\N	EFO	4	EFO	genetic disorder	MPDU1-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79323	"" []	2045709	\N	\N	EFO	4	EFO	metabolic disease	MPDU1-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79323	"" []	2045710	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	MPDU1-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79323	"" []	2045711	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	MPDU1-CDG
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79323	"" []	2045712	\N	\N	EFO	4	EFO	genetic disorder	MPDU1-CDG
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79323	"" []	2045713	\N	\N	EFO	4	EFO	skin disease	MPDU1-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79323	"" []	5183315	\N	\N	EFO	7	EFO	disease	MPDU1-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79323	"" []	3195791	\N	\N	EFO	5	EFO	disease	MPDU1-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79323	"" []	3195792	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	MPDU1-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79323	"" []	4401571	\N	\N	EFO	6	EFO	genetic disorder	MPDU1-CDG
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79323	"" []	3195794	\N	\N	EFO	5	EFO	disease	MPDU1-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79323	"" []	5877733	\N	\N	EFO	8	EFO	disposition	MPDU1-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79323	"" []	6470953	\N	\N	EFO	9	EFO	material property	MPDU1-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79323	"" []	6848802	\N	\N	EFO	10	EFO	experimental factor	MPDU1-CDG
Orphanet:79324	\N	\N	"" []	Orphanet:79324	"" []	77997	\N	\N	EFO	0	EFO	ALG12-CDG	ALG12-CDG
Orphanet:309347	Orphanet:79324	\N	"" []	Orphanet:79324	"" []	222397	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	ALG12-CDG
Orphanet:371047	Orphanet:79324	\N	"" []	Orphanet:79324	"" []	222398	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	ALG12-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:79324	"" []	578593	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	ALG12-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79324	"" []	578594	\N	\N	EFO	2	EFO	Neurometabolic disease	ALG12-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79324	"" []	1162141	\N	\N	EFO	3	EFO	Inborn errors of metabolism	ALG12-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79324	"" []	1162142	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	ALG12-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79324	"" []	2045714	\N	\N	EFO	4	EFO	genetic disorder	ALG12-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79324	"" []	2045715	\N	\N	EFO	4	EFO	metabolic disease	ALG12-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79324	"" []	2045716	\N	\N	EFO	4	EFO	genetic disorder	ALG12-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79324	"" []	3195795	\N	\N	EFO	5	EFO	disease	ALG12-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79324	"" []	3195796	\N	\N	EFO	5	EFO	disease	ALG12-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79324	"" []	4401573	\N	\N	EFO	6	EFO	disposition	ALG12-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79324	"" []	5417871	\N	\N	EFO	7	EFO	material property	ALG12-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79324	"" []	6152673	\N	\N	EFO	8	EFO	experimental factor	ALG12-CDG
Orphanet:79325	\N	\N	"" []	Orphanet:79325	"" []	77998	\N	\N	EFO	0	EFO	ALG8-CDG	ALG8-CDG
Orphanet:309347	Orphanet:79325	\N	"" []	Orphanet:79325	"" []	222399	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	ALG8-CDG
Orphanet:371064	Orphanet:79325	\N	"" []	Orphanet:79325	"" []	222400	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	ALG8-CDG
Orphanet:371157	Orphanet:79325	\N	"" []	Orphanet:79325	"" []	222401	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	ALG8-CDG
Orphanet:371188	Orphanet:79325	\N	"" []	Orphanet:79325	"" []	222402	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with intestinal involvement	ALG8-CDG
Orphanet:371207	Orphanet:79325	\N	"" []	Orphanet:79325	"" []	222403	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with nephropathy as a major feature	ALG8-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:79325	"" []	578595	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	ALG8-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:79325	"" []	578596	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	ALG8-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:79325	"" []	578597	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ALG8-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:79325	"" []	578598	\N	\N	EFO	2	EFO	Rare metabolic liver disease	ALG8-CDG
Orphanet:104013	Orphanet:371188	\N	"" []	Orphanet:79325	"" []	578599	\N	\N	EFO	2	EFO	Metabolic disease with intestinal involvement	ALG8-CDG
Orphanet:93593	Orphanet:371207	\N	"" []	Orphanet:79325	"" []	578600	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	ALG8-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79325	"" []	1162143	\N	\N	EFO	3	EFO	Inborn errors of metabolism	ALG8-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:79325	"" []	1162144	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	ALG8-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79325	"" []	1162145	\N	\N	EFO	3	EFO	Neurometabolic disease	ALG8-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79325	"" []	1162146	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	ALG8-CDG
Orphanet:165655	Orphanet:104013	\N	"" []	Orphanet:79325	"" []	1162147	\N	\N	EFO	3	EFO	Genetic intestinal disease	ALG8-CDG
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79325	"" []	1162148	\N	\N	EFO	3	EFO	Rare genetic renal disease	ALG8-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79325	"" []	2045717	\N	\N	EFO	4	EFO	genetic disorder	ALG8-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79325	"" []	2045718	\N	\N	EFO	4	EFO	metabolic disease	ALG8-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79325	"" []	2045719	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	ALG8-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79325	"" []	2045720	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	ALG8-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79325	"" []	2045721	\N	\N	EFO	4	EFO	digestive system disease	ALG8-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79325	"" []	2045722	\N	\N	EFO	4	EFO	genetic disorder	ALG8-CDG
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79325	"" []	2045723	\N	\N	EFO	4	EFO	digestive system disease	ALG8-CDG
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:79325	"" []	2045724	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	ALG8-CDG
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79325	"" []	2045725	\N	\N	EFO	4	EFO	genetic disorder	ALG8-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79325	"" []	5183317	\N	\N	EFO	7	EFO	disease	ALG8-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79325	"" []	3195798	\N	\N	EFO	5	EFO	disease	ALG8-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79325	"" []	3195799	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	ALG8-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79325	"" []	4401575	\N	\N	EFO	6	EFO	genetic disorder	ALG8-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79325	"" []	3195801	\N	\N	EFO	5	EFO	disease	ALG8-CDG
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79325	"" []	3195802	\N	\N	EFO	5	EFO	genetic disorder	ALG8-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79325	"" []	5877734	\N	\N	EFO	8	EFO	disposition	ALG8-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79325	"" []	6470954	\N	\N	EFO	9	EFO	material property	ALG8-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79325	"" []	6848803	\N	\N	EFO	10	EFO	experimental factor	ALG8-CDG
Orphanet:79326	\N	\N	"" []	Orphanet:79326	"" []	77999	\N	\N	EFO	0	EFO	ALG2-CDG	ALG2-CDG
Orphanet:309347	Orphanet:79326	\N	"" []	Orphanet:79326	"" []	222404	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	ALG2-CDG
Orphanet:371064	Orphanet:79326	\N	"" []	Orphanet:79326	"" []	222405	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	ALG2-CDG
Orphanet:371071	Orphanet:79326	\N	"" []	Orphanet:79326	"" []	222406	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	ALG2-CDG
Orphanet:371157	Orphanet:79326	\N	"" []	Orphanet:79326	"" []	222407	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	ALG2-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:79326	"" []	578601	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	ALG2-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:79326	"" []	578602	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	ALG2-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:79326	"" []	578603	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ALG2-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:79326	"" []	578604	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ALG2-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:79326	"" []	578605	\N	\N	EFO	2	EFO	Rare metabolic liver disease	ALG2-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79326	"" []	1162149	\N	\N	EFO	3	EFO	Inborn errors of metabolism	ALG2-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:79326	"" []	1162150	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	ALG2-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79326	"" []	1162151	\N	\N	EFO	3	EFO	Neurometabolic disease	ALG2-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79326	"" []	1162152	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	ALG2-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79326	"" []	2045726	\N	\N	EFO	4	EFO	genetic disorder	ALG2-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79326	"" []	2045727	\N	\N	EFO	4	EFO	metabolic disease	ALG2-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79326	"" []	2045728	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	ALG2-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79326	"" []	2045729	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	ALG2-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79326	"" []	2045730	\N	\N	EFO	4	EFO	digestive system disease	ALG2-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79326	"" []	2045731	\N	\N	EFO	4	EFO	genetic disorder	ALG2-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79326	"" []	5183319	\N	\N	EFO	7	EFO	disease	ALG2-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79326	"" []	3195804	\N	\N	EFO	5	EFO	disease	ALG2-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79326	"" []	3195805	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	ALG2-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79326	"" []	4401578	\N	\N	EFO	6	EFO	genetic disorder	ALG2-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79326	"" []	3195807	\N	\N	EFO	5	EFO	disease	ALG2-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79326	"" []	5877735	\N	\N	EFO	8	EFO	disposition	ALG2-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79326	"" []	6470955	\N	\N	EFO	9	EFO	material property	ALG2-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79326	"" []	6848804	\N	\N	EFO	10	EFO	experimental factor	ALG2-CDG
Orphanet:79327	\N	\N	"" []	Orphanet:79327	"" []	78000	\N	\N	EFO	0	EFO	ALG1-CDG	ALG1-CDG
Orphanet:309347	Orphanet:79327	\N	"" []	Orphanet:79327	"" []	222408	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	ALG1-CDG
Orphanet:371064	Orphanet:79327	\N	"" []	Orphanet:79327	"" []	222409	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	ALG1-CDG
Orphanet:371071	Orphanet:79327	\N	"" []	Orphanet:79327	"" []	222410	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	ALG1-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:79327	"" []	578606	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	ALG1-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:79327	"" []	578607	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	ALG1-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:79327	"" []	578608	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ALG1-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:79327	"" []	578609	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ALG1-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79327	"" []	1162153	\N	\N	EFO	3	EFO	Inborn errors of metabolism	ALG1-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:79327	"" []	1162154	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	ALG1-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79327	"" []	1162155	\N	\N	EFO	3	EFO	Neurometabolic disease	ALG1-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79327	"" []	2045732	\N	\N	EFO	4	EFO	genetic disorder	ALG1-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79327	"" []	2045733	\N	\N	EFO	4	EFO	metabolic disease	ALG1-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79327	"" []	2045734	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	ALG1-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79327	"" []	2045735	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	ALG1-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79327	"" []	5183321	\N	\N	EFO	7	EFO	disease	ALG1-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79327	"" []	3195809	\N	\N	EFO	5	EFO	disease	ALG1-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79327	"" []	3195810	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	ALG1-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79327	"" []	4401581	\N	\N	EFO	6	EFO	genetic disorder	ALG1-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79327	"" []	5877736	\N	\N	EFO	8	EFO	disposition	ALG1-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79327	"" []	6470956	\N	\N	EFO	9	EFO	material property	ALG1-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79327	"" []	6848805	\N	\N	EFO	10	EFO	experimental factor	ALG1-CDG
Orphanet:79328	\N	\N	"" []	Orphanet:79328	"" []	78001	\N	\N	EFO	0	EFO	ALG9-CDG	ALG9-CDG
Orphanet:309347	Orphanet:79328	\N	"" []	Orphanet:79328	"" []	222411	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	ALG9-CDG
Orphanet:371071	Orphanet:79328	\N	"" []	Orphanet:79328	"" []	222412	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	ALG9-CDG
Orphanet:371157	Orphanet:79328	\N	"" []	Orphanet:79328	"" []	222413	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	ALG9-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:79328	"" []	578610	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	ALG9-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:79328	"" []	578611	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	ALG9-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:79328	"" []	578612	\N	\N	EFO	2	EFO	Rare metabolic liver disease	ALG9-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79328	"" []	1162156	\N	\N	EFO	3	EFO	Inborn errors of metabolism	ALG9-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79328	"" []	1162157	\N	\N	EFO	3	EFO	Neurometabolic disease	ALG9-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79328	"" []	1162158	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	ALG9-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79328	"" []	2045736	\N	\N	EFO	4	EFO	genetic disorder	ALG9-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79328	"" []	2045737	\N	\N	EFO	4	EFO	metabolic disease	ALG9-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79328	"" []	2045738	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	ALG9-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79328	"" []	2045739	\N	\N	EFO	4	EFO	digestive system disease	ALG9-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79328	"" []	2045740	\N	\N	EFO	4	EFO	genetic disorder	ALG9-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79328	"" []	4401584	\N	\N	EFO	6	EFO	disease	ALG9-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79328	"" []	3195813	\N	\N	EFO	5	EFO	disease	ALG9-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79328	"" []	3195814	\N	\N	EFO	5	EFO	genetic disorder	ALG9-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79328	"" []	3195815	\N	\N	EFO	5	EFO	disease	ALG9-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79328	"" []	5183322	\N	\N	EFO	7	EFO	disposition	ALG9-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79328	"" []	5998663	\N	\N	EFO	8	EFO	material property	ALG9-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79328	"" []	6551719	\N	\N	EFO	9	EFO	experimental factor	ALG9-CDG
Orphanet:79329	\N	\N	"" []	Orphanet:79329	"" []	78002	\N	\N	EFO	0	EFO	MGAT2-CDG	MGAT2-CDG
Orphanet:309347	Orphanet:79329	\N	"" []	Orphanet:79329	"" []	222414	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	MGAT2-CDG
Orphanet:371064	Orphanet:79329	\N	"" []	Orphanet:79329	"" []	222415	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	MGAT2-CDG
Orphanet:371183	Orphanet:79329	\N	"" []	Orphanet:79329	"" []	222416	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with cardiac malformation as a major feature	MGAT2-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:79329	"" []	578613	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	MGAT2-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:79329	"" []	578614	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	MGAT2-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:79329	"" []	578615	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	MGAT2-CDG
Orphanet:156532	Orphanet:371183	\N	"" []	Orphanet:79329	"" []	578616	\N	\N	EFO	2	EFO	Rare syndrome with cardiac malformations	MGAT2-CDG
Orphanet:371235	Orphanet:371183	\N	"" []	Orphanet:79329	"" []	578617	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	MGAT2-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79329	"" []	1162159	\N	\N	EFO	3	EFO	Inborn errors of metabolism	MGAT2-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:79329	"" []	1162160	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	MGAT2-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79329	"" []	1162161	\N	\N	EFO	3	EFO	Neurometabolic disease	MGAT2-CDG
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:79329	"" []	1162162	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	MGAT2-CDG
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:79329	"" []	1162163	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	MGAT2-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79329	"" []	2045741	\N	\N	EFO	4	EFO	genetic disorder	MGAT2-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79329	"" []	2045742	\N	\N	EFO	4	EFO	metabolic disease	MGAT2-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79329	"" []	2045743	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	MGAT2-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79329	"" []	2045744	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	MGAT2-CDG
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79329	"" []	2045745	\N	\N	EFO	4	EFO	genetic disorder	MGAT2-CDG
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:79329	"" []	2045746	\N	\N	EFO	4	EFO	heart disease	MGAT2-CDG
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79329	"" []	2045747	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	MGAT2-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79329	"" []	5183324	\N	\N	EFO	7	EFO	disease	MGAT2-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79329	"" []	3195817	\N	\N	EFO	5	EFO	disease	MGAT2-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79329	"" []	3195818	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	MGAT2-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79329	"" []	4401586	\N	\N	EFO	6	EFO	genetic disorder	MGAT2-CDG
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:79329	"" []	3195820	\N	\N	EFO	5	EFO	cardiovascular disease	MGAT2-CDG
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79329	"" []	3195821	\N	\N	EFO	5	EFO	genetic disorder	MGAT2-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79329	"" []	5877737	\N	\N	EFO	8	EFO	disposition	MGAT2-CDG
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79329	"" []	4401588	\N	\N	EFO	6	EFO	disease	MGAT2-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79329	"" []	6470957	\N	\N	EFO	9	EFO	material property	MGAT2-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79329	"" []	6848806	\N	\N	EFO	10	EFO	experimental factor	MGAT2-CDG
Orphanet:79330	\N	\N	"" []	Orphanet:79330	"" []	78003	\N	\N	EFO	0	EFO	GCS1-CDG	GCS1-CDG
Orphanet:309347	Orphanet:79330	\N	"" []	Orphanet:79330	"" []	222417	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	GCS1-CDG
Orphanet:371071	Orphanet:79330	\N	"" []	Orphanet:79330	"" []	222418	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	GCS1-CDG
Orphanet:371157	Orphanet:79330	\N	"" []	Orphanet:79330	"" []	222419	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	GCS1-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:79330	"" []	578618	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	GCS1-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:79330	"" []	578619	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	GCS1-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:79330	"" []	578620	\N	\N	EFO	2	EFO	Rare metabolic liver disease	GCS1-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79330	"" []	1162164	\N	\N	EFO	3	EFO	Inborn errors of metabolism	GCS1-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79330	"" []	1162165	\N	\N	EFO	3	EFO	Neurometabolic disease	GCS1-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79330	"" []	1162166	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	GCS1-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79330	"" []	2045748	\N	\N	EFO	4	EFO	genetic disorder	GCS1-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79330	"" []	2045749	\N	\N	EFO	4	EFO	metabolic disease	GCS1-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79330	"" []	2045750	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	GCS1-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79330	"" []	2045751	\N	\N	EFO	4	EFO	digestive system disease	GCS1-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79330	"" []	2045752	\N	\N	EFO	4	EFO	genetic disorder	GCS1-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79330	"" []	4401590	\N	\N	EFO	6	EFO	disease	GCS1-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79330	"" []	3195823	\N	\N	EFO	5	EFO	disease	GCS1-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79330	"" []	3195824	\N	\N	EFO	5	EFO	genetic disorder	GCS1-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79330	"" []	3195825	\N	\N	EFO	5	EFO	disease	GCS1-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79330	"" []	5183325	\N	\N	EFO	7	EFO	disposition	GCS1-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79330	"" []	5998665	\N	\N	EFO	8	EFO	material property	GCS1-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79330	"" []	6551721	\N	\N	EFO	9	EFO	experimental factor	GCS1-CDG
Orphanet:79332	\N	\N	"" []	Orphanet:79332	"" []	78004	\N	\N	EFO	0	EFO	B4GALT1-CDG	B4GALT1-CDG
Orphanet:269570	Orphanet:79332	\N	"" []	Orphanet:79332	"" []	222420	\N	\N	EFO	1	EFO	Genetic syndrome with a Dandy-Walker malformation as major feature	B4GALT1-CDG
Orphanet:309526	Orphanet:79332	\N	"" []	Orphanet:79332	"" []	222421	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	B4GALT1-CDG
Orphanet:371047	Orphanet:79332	\N	"" []	Orphanet:79332	"" []	222422	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with neurological involvement	B4GALT1-CDG
Orphanet:371157	Orphanet:79332	\N	"" []	Orphanet:79332	"" []	222423	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with hepatic involvement	B4GALT1-CDG
Orphanet:371235	Orphanet:79332	\N	"" []	Orphanet:79332	"" []	222424	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with developmental anomaly	B4GALT1-CDG
Orphanet:269567	Orphanet:269570	\N	"" []	Orphanet:79332	"" []	578621	\N	\N	EFO	2	EFO	Genetic syndrome with a cerebellar malformation as major feature	B4GALT1-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:79332	"" []	578622	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	B4GALT1-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79332	"" []	578623	\N	\N	EFO	2	EFO	Neurometabolic disease	B4GALT1-CDG
Orphanet:101940	Orphanet:371157	\N	"" []	Orphanet:79332	"" []	578624	\N	\N	EFO	2	EFO	Rare metabolic liver disease	B4GALT1-CDG
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:79332	"" []	578625	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	B4GALT1-CDG
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:79332	"" []	1162167	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	B4GALT1-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79332	"" []	1162168	\N	\N	EFO	3	EFO	Inborn errors of metabolism	B4GALT1-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79332	"" []	1162169	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	B4GALT1-CDG
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:79332	"" []	1162170	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	B4GALT1-CDG
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79332	"" []	1162171	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	B4GALT1-CDG
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:79332	"" []	2045753	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	B4GALT1-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79332	"" []	2045754	\N	\N	EFO	4	EFO	genetic disorder	B4GALT1-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79332	"" []	2045755	\N	\N	EFO	4	EFO	metabolic disease	B4GALT1-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79332	"" []	4401592	\N	\N	EFO	6	EFO	genetic disorder	B4GALT1-CDG
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79332	"" []	2045757	\N	\N	EFO	4	EFO	digestive system disease	B4GALT1-CDG
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79332	"" []	2045758	\N	\N	EFO	4	EFO	genetic disorder	B4GALT1-CDG
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79332	"" []	4401591	\N	\N	EFO	6	EFO	genetic disorder	B4GALT1-CDG
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:79332	"" []	3195826	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	B4GALT1-CDG
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:79332	"" []	3195827	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	B4GALT1-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79332	"" []	5060257	\N	\N	EFO	7	EFO	disease	B4GALT1-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79332	"" []	3195829	\N	\N	EFO	5	EFO	disease	B4GALT1-CDG
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79332	"" []	3195830	\N	\N	EFO	5	EFO	disease	B4GALT1-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79332	"" []	5877738	\N	\N	EFO	8	EFO	disposition	B4GALT1-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79332	"" []	6470958	\N	\N	EFO	9	EFO	material property	B4GALT1-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79332	"" []	6848807	\N	\N	EFO	10	EFO	experimental factor	B4GALT1-CDG
Orphanet:79333	\N	\N	"" []	Orphanet:79333	"" []	78005	\N	\N	EFO	0	EFO	COG7-CDG	COG7-CDG
Orphanet:309568	Orphanet:79333	\N	"" []	Orphanet:79333	"" []	222425	\N	\N	EFO	1	EFO	Defect in conserved oligomeric Golgi complex	COG7-CDG
Orphanet:371071	Orphanet:79333	\N	"" []	Orphanet:79333	"" []	222426	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	COG7-CDG
Orphanet:371183	Orphanet:79333	\N	"" []	Orphanet:79333	"" []	222427	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with cardiac malformation as a major feature	COG7-CDG
Orphanet:371200	Orphanet:79333	\N	"" []	Orphanet:79333	"" []	222428	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	COG7-CDG
Orphanet:309526	Orphanet:309568	\N	"" []	Orphanet:79333	"" []	578626	\N	\N	EFO	2	EFO	Disorder of multiple glycosylation	COG7-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:79333	"" []	578627	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	COG7-CDG
Orphanet:156532	Orphanet:371183	\N	"" []	Orphanet:79333	"" []	578628	\N	\N	EFO	2	EFO	Rare syndrome with cardiac malformations	COG7-CDG
Orphanet:371235	Orphanet:371183	\N	"" []	Orphanet:79333	"" []	578629	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	COG7-CDG
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:79333	"" []	578630	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	COG7-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:79333	"" []	1162172	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	COG7-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:79333	"" []	1162173	\N	\N	EFO	3	EFO	Neurometabolic disease	COG7-CDG
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:79333	"" []	1162174	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	COG7-CDG
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:79333	"" []	1162175	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	COG7-CDG
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79333	"" []	1162176	\N	\N	EFO	3	EFO	Rare genetic skin disease	COG7-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:79333	"" []	2045760	\N	\N	EFO	4	EFO	Inborn errors of metabolism	COG7-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79333	"" []	2045761	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	COG7-CDG
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79333	"" []	2045762	\N	\N	EFO	4	EFO	genetic disorder	COG7-CDG
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:79333	"" []	2045763	\N	\N	EFO	4	EFO	heart disease	COG7-CDG
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79333	"" []	2045764	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	COG7-CDG
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79333	"" []	2045765	\N	\N	EFO	4	EFO	genetic disorder	COG7-CDG
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79333	"" []	2045766	\N	\N	EFO	4	EFO	skin disease	COG7-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79333	"" []	3195831	\N	\N	EFO	5	EFO	genetic disorder	COG7-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79333	"" []	3195832	\N	\N	EFO	5	EFO	metabolic disease	COG7-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79333	"" []	3195833	\N	\N	EFO	5	EFO	genetic disorder	COG7-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79333	"" []	4401594	\N	\N	EFO	6	EFO	disease	COG7-CDG
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:79333	"" []	3195835	\N	\N	EFO	5	EFO	cardiovascular disease	COG7-CDG
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79333	"" []	3195836	\N	\N	EFO	5	EFO	genetic disorder	COG7-CDG
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79333	"" []	3195837	\N	\N	EFO	5	EFO	disease	COG7-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79333	"" []	4401595	\N	\N	EFO	6	EFO	disease	COG7-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79333	"" []	5183326	\N	\N	EFO	7	EFO	disposition	COG7-CDG
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79333	"" []	4401597	\N	\N	EFO	6	EFO	disease	COG7-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79333	"" []	5998666	\N	\N	EFO	8	EFO	material property	COG7-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79333	"" []	6551722	\N	\N	EFO	9	EFO	experimental factor	COG7-CDG
Orphanet:79344	\N	\N	"" []	Orphanet:79344	"" []	78006	\N	\N	EFO	0	EFO	Autosomal dominant chondrodysplasia punctata	Autosomal dominant chondrodysplasia punctata
Orphanet:176	Orphanet:79344	\N	"" []	Orphanet:79344	"" []	222429	\N	\N	EFO	1	EFO	Non-rhizomelic chondrodysplasia punctata	Autosomal dominant chondrodysplasia punctata
Orphanet:93442	Orphanet:176	\N	"" []	Orphanet:79344	"" []	578631	\N	\N	EFO	2	EFO	Chondrodysplasia punctata	Autosomal dominant chondrodysplasia punctata
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:79344	"" []	1162177	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal dominant chondrodysplasia punctata
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:79344	"" []	2045767	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal dominant chondrodysplasia punctata
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:79344	"" []	2045768	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal dominant chondrodysplasia punctata
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79344	"" []	3195838	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant chondrodysplasia punctata
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79344	"" []	3195839	\N	\N	EFO	5	EFO	bone disease	Autosomal dominant chondrodysplasia punctata
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:79344	"" []	3195840	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant chondrodysplasia punctata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79344	"" []	5417882	\N	\N	EFO	7	EFO	disease	Autosomal dominant chondrodysplasia punctata
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79344	"" []	4401599	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal dominant chondrodysplasia punctata
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79344	"" []	4401600	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant chondrodysplasia punctata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79344	"" []	5998667	\N	\N	EFO	8	EFO	disposition	Autosomal dominant chondrodysplasia punctata
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79344	"" []	5417881	\N	\N	EFO	7	EFO	disease	Autosomal dominant chondrodysplasia punctata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79344	"" []	6551723	\N	\N	EFO	9	EFO	material property	Autosomal dominant chondrodysplasia punctata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79344	"" []	6889525	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant chondrodysplasia punctata
Orphanet:79345	\N	\N	"" []	Orphanet:79345	"" []	78007	\N	\N	EFO	0	EFO	Brachytelephalangic chondrodysplasia punctata	Brachytelephalangic chondrodysplasia punctata
Orphanet:176	Orphanet:79345	\N	"" []	Orphanet:79345	"" []	222430	\N	\N	EFO	1	EFO	Non-rhizomelic chondrodysplasia punctata	Brachytelephalangic chondrodysplasia punctata
Orphanet:91088	Orphanet:79345	\N	"" []	Orphanet:79345	"" []	222431	\N	\N	EFO	1	EFO	Other metabolic disease	Brachytelephalangic chondrodysplasia punctata
Orphanet:93442	Orphanet:176	\N	"" []	Orphanet:79345	"" []	578632	\N	\N	EFO	2	EFO	Chondrodysplasia punctata	Brachytelephalangic chondrodysplasia punctata
Orphanet:68367	Orphanet:91088	\N	"" []	Orphanet:79345	"" []	578633	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Brachytelephalangic chondrodysplasia punctata
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:79345	"" []	1162178	\N	\N	EFO	3	EFO	Primary bone dysplasia	Brachytelephalangic chondrodysplasia punctata
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79345	"" []	1162179	\N	\N	EFO	3	EFO	genetic disorder	Brachytelephalangic chondrodysplasia punctata
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79345	"" []	1162180	\N	\N	EFO	3	EFO	metabolic disease	Brachytelephalangic chondrodysplasia punctata
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:79345	"" []	2045769	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachytelephalangic chondrodysplasia punctata
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:79345	"" []	2045770	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachytelephalangic chondrodysplasia punctata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79345	"" []	5417884	\N	\N	EFO	7	EFO	disease	Brachytelephalangic chondrodysplasia punctata
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79345	"" []	2045772	\N	\N	EFO	4	EFO	disease	Brachytelephalangic chondrodysplasia punctata
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79345	"" []	3195841	\N	\N	EFO	5	EFO	genetic disorder	Brachytelephalangic chondrodysplasia punctata
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79345	"" []	3195842	\N	\N	EFO	5	EFO	bone disease	Brachytelephalangic chondrodysplasia punctata
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:79345	"" []	3195843	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachytelephalangic chondrodysplasia punctata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79345	"" []	5817855	\N	\N	EFO	8	EFO	disposition	Brachytelephalangic chondrodysplasia punctata
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79345	"" []	4401602	\N	\N	EFO	6	EFO	skeletal system disease	Brachytelephalangic chondrodysplasia punctata
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79345	"" []	4401603	\N	\N	EFO	6	EFO	genetic disorder	Brachytelephalangic chondrodysplasia punctata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79345	"" []	6410352	\N	\N	EFO	9	EFO	material property	Brachytelephalangic chondrodysplasia punctata
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79345	"" []	5417883	\N	\N	EFO	7	EFO	disease	Brachytelephalangic chondrodysplasia punctata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79345	"" []	6808164	\N	\N	EFO	10	EFO	experimental factor	Brachytelephalangic chondrodysplasia punctata
Orphanet:79346	\N	\N	"" []	Orphanet:79346	"" []	78008	\N	\N	EFO	0	EFO	Chondrodysplasia punctata, tibial-metacarpal type	Chondrodysplasia punctata, tibial-metacarpal type
Orphanet:176	Orphanet:79346	\N	"" []	Orphanet:79346	"" []	222432	\N	\N	EFO	1	EFO	Non-rhizomelic chondrodysplasia punctata	Chondrodysplasia punctata, tibial-metacarpal type
Orphanet:93442	Orphanet:176	\N	"" []	Orphanet:79346	"" []	578634	\N	\N	EFO	2	EFO	Chondrodysplasia punctata	Chondrodysplasia punctata, tibial-metacarpal type
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:79346	"" []	1162181	\N	\N	EFO	3	EFO	Primary bone dysplasia	Chondrodysplasia punctata, tibial-metacarpal type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:79346	"" []	2045773	\N	\N	EFO	4	EFO	Rare genetic bone disease	Chondrodysplasia punctata, tibial-metacarpal type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:79346	"" []	2045774	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Chondrodysplasia punctata, tibial-metacarpal type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79346	"" []	3195845	\N	\N	EFO	5	EFO	genetic disorder	Chondrodysplasia punctata, tibial-metacarpal type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79346	"" []	3195846	\N	\N	EFO	5	EFO	bone disease	Chondrodysplasia punctata, tibial-metacarpal type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:79346	"" []	3195847	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Chondrodysplasia punctata, tibial-metacarpal type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79346	"" []	5417888	\N	\N	EFO	7	EFO	disease	Chondrodysplasia punctata, tibial-metacarpal type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79346	"" []	4401606	\N	\N	EFO	6	EFO	skeletal system disease	Chondrodysplasia punctata, tibial-metacarpal type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79346	"" []	4401607	\N	\N	EFO	6	EFO	genetic disorder	Chondrodysplasia punctata, tibial-metacarpal type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79346	"" []	5998668	\N	\N	EFO	8	EFO	disposition	Chondrodysplasia punctata, tibial-metacarpal type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79346	"" []	5417887	\N	\N	EFO	7	EFO	disease	Chondrodysplasia punctata, tibial-metacarpal type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79346	"" []	6551724	\N	\N	EFO	9	EFO	material property	Chondrodysplasia punctata, tibial-metacarpal type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79346	"" []	6889526	\N	\N	EFO	10	EFO	experimental factor	Chondrodysplasia punctata, tibial-metacarpal type
Orphanet:79347	\N	\N	"" []	Orphanet:79347	"" []	78009	\N	\N	EFO	0	EFO	Chondrodysplasia punctata, Toriello type	Chondrodysplasia punctata, Toriello type
Orphanet:176	Orphanet:79347	\N	"" []	Orphanet:79347	"" []	222433	\N	\N	EFO	1	EFO	Non-rhizomelic chondrodysplasia punctata	Chondrodysplasia punctata, Toriello type
Orphanet:93442	Orphanet:176	\N	"" []	Orphanet:79347	"" []	578635	\N	\N	EFO	2	EFO	Chondrodysplasia punctata	Chondrodysplasia punctata, Toriello type
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:79347	"" []	1162182	\N	\N	EFO	3	EFO	Primary bone dysplasia	Chondrodysplasia punctata, Toriello type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:79347	"" []	2045775	\N	\N	EFO	4	EFO	Rare genetic bone disease	Chondrodysplasia punctata, Toriello type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:79347	"" []	2045776	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Chondrodysplasia punctata, Toriello type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79347	"" []	3195848	\N	\N	EFO	5	EFO	genetic disorder	Chondrodysplasia punctata, Toriello type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79347	"" []	3195849	\N	\N	EFO	5	EFO	bone disease	Chondrodysplasia punctata, Toriello type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:79347	"" []	3195850	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Chondrodysplasia punctata, Toriello type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79347	"" []	5417891	\N	\N	EFO	7	EFO	disease	Chondrodysplasia punctata, Toriello type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79347	"" []	4401609	\N	\N	EFO	6	EFO	skeletal system disease	Chondrodysplasia punctata, Toriello type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79347	"" []	4401610	\N	\N	EFO	6	EFO	genetic disorder	Chondrodysplasia punctata, Toriello type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79347	"" []	5998669	\N	\N	EFO	8	EFO	disposition	Chondrodysplasia punctata, Toriello type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79347	"" []	5417890	\N	\N	EFO	7	EFO	disease	Chondrodysplasia punctata, Toriello type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79347	"" []	6551725	\N	\N	EFO	9	EFO	material property	Chondrodysplasia punctata, Toriello type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79347	"" []	6889527	\N	\N	EFO	10	EFO	experimental factor	Chondrodysplasia punctata, Toriello type
Orphanet:79350	\N	\N	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	Orphanet:79350	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	78010	\N	\N	EFO	0	EFO	3-phosphoserine phosphatase deficiency	3-phosphoserine phosphatase deficiency
Orphanet:35705	Orphanet:79350	\N	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	Orphanet:79350	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	222434	\N	\N	EFO	1	EFO	Neurometabolic disorder due to serine deficiency	3-phosphoserine phosphatase deficiency
Orphanet:79194	Orphanet:35705	\N	"" []	Orphanet:79350	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	578636	\N	\N	EFO	2	EFO	Disorder of serine or glycine metabolism	3-phosphoserine phosphatase deficiency
Orphanet:79062	Orphanet:79194	\N	"" []	Orphanet:79350	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	1162183	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	3-phosphoserine phosphatase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79350	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	2045777	\N	\N	EFO	4	EFO	Inborn errors of metabolism	3-phosphoserine phosphatase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79350	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	3195851	\N	\N	EFO	5	EFO	genetic disorder	3-phosphoserine phosphatase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79350	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	3195852	\N	\N	EFO	5	EFO	metabolic disease	3-phosphoserine phosphatase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79350	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	4401611	\N	\N	EFO	6	EFO	disease	3-phosphoserine phosphatase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79350	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	4401612	\N	\N	EFO	6	EFO	disease	3-phosphoserine phosphatase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79350	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	5417892	\N	\N	EFO	7	EFO	disposition	3-phosphoserine phosphatase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79350	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	6152685	\N	\N	EFO	8	EFO	material property	3-phosphoserine phosphatase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79350	"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." []	6634133	\N	\N	EFO	9	EFO	experimental factor	3-phosphoserine phosphatase deficiency
Orphanet:79351	\N	\N	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	Orphanet:79351	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	78011	\N	\N	EFO	0	EFO	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Orphanet:35705	Orphanet:79351	\N	"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." []	Orphanet:79351	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	222435	\N	\N	EFO	1	EFO	Neurometabolic disorder due to serine deficiency	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Orphanet:79194	Orphanet:35705	\N	"" []	Orphanet:79351	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	578637	\N	\N	EFO	2	EFO	Disorder of serine or glycine metabolism	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Orphanet:79062	Orphanet:79194	\N	"" []	Orphanet:79351	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	1162184	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79351	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	2045778	\N	\N	EFO	4	EFO	Inborn errors of metabolism	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79351	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	3195853	\N	\N	EFO	5	EFO	genetic disorder	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79351	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	3195854	\N	\N	EFO	5	EFO	metabolic disease	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79351	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	4401613	\N	\N	EFO	6	EFO	disease	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79351	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	4401614	\N	\N	EFO	6	EFO	disease	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79351	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	5417893	\N	\N	EFO	7	EFO	disposition	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79351	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	6152686	\N	\N	EFO	8	EFO	material property	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79351	"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" []	6634134	\N	\N	EFO	9	EFO	experimental factor	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Orphanet:79357	\N	\N	"" []	Orphanet:79357	"" []	78012	\N	\N	EFO	0	EFO	Hereditary palmoplantar keratoderma	Hereditary palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:79357	"" []	222436	\N	\N	EFO	1	EFO	Genetic epidermal disorder	Hereditary palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79357	"" []	578638	\N	\N	EFO	2	EFO	Rare genetic skin disease	Hereditary palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79357	"" []	1162185	\N	\N	EFO	3	EFO	genetic disorder	Hereditary palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79357	"" []	1162186	\N	\N	EFO	3	EFO	skin disease	Hereditary palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79357	"" []	2045779	\N	\N	EFO	4	EFO	disease	Hereditary palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79357	"" []	2045780	\N	\N	EFO	4	EFO	disease	Hereditary palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79357	"" []	3195855	\N	\N	EFO	5	EFO	disposition	Hereditary palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79357	"" []	4401615	\N	\N	EFO	6	EFO	material property	Hereditary palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79357	"" []	5417894	\N	\N	EFO	7	EFO	experimental factor	Hereditary palmoplantar keratoderma
Orphanet:79360	\N	\N	"" []	Orphanet:79360	"" []	78013	\N	\N	EFO	0	EFO	Other genetic epidermal disease	Other genetic epidermal disease
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:79360	"" []	222437	\N	\N	EFO	1	EFO	Genetic epidermal disorder	Other genetic epidermal disease
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79360	"" []	578639	\N	\N	EFO	2	EFO	Rare genetic skin disease	Other genetic epidermal disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79360	"" []	1162187	\N	\N	EFO	3	EFO	genetic disorder	Other genetic epidermal disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79360	"" []	1162188	\N	\N	EFO	3	EFO	skin disease	Other genetic epidermal disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79360	"" []	2045781	\N	\N	EFO	4	EFO	disease	Other genetic epidermal disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79360	"" []	2045782	\N	\N	EFO	4	EFO	disease	Other genetic epidermal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79360	"" []	3195856	\N	\N	EFO	5	EFO	disposition	Other genetic epidermal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79360	"" []	4401616	\N	\N	EFO	6	EFO	material property	Other genetic epidermal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79360	"" []	5417895	\N	\N	EFO	7	EFO	experimental factor	Other genetic epidermal disease
Orphanet:79361	\N	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79361	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	78014	\N	\N	EFO	0	EFO	Inherited epidermolysis bullosa	Inherited epidermolysis bullosa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79361	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	222438	\N	\N	EFO	1	EFO	Genetic epidermal disorder	Inherited epidermolysis bullosa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79361	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	578640	\N	\N	EFO	2	EFO	Rare genetic skin disease	Inherited epidermolysis bullosa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79361	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	1162189	\N	\N	EFO	3	EFO	genetic disorder	Inherited epidermolysis bullosa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79361	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	1162190	\N	\N	EFO	3	EFO	skin disease	Inherited epidermolysis bullosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79361	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	2045783	\N	\N	EFO	4	EFO	disease	Inherited epidermolysis bullosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79361	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	2045784	\N	\N	EFO	4	EFO	disease	Inherited epidermolysis bullosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79361	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	3195857	\N	\N	EFO	5	EFO	disposition	Inherited epidermolysis bullosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79361	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	4401617	\N	\N	EFO	6	EFO	material property	Inherited epidermolysis bullosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79361	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	5417896	\N	\N	EFO	7	EFO	experimental factor	Inherited epidermolysis bullosa
Orphanet:79364	\N	\N	"" []	Orphanet:79364	"" []	78015	\N	\N	EFO	0	EFO	Alopecia	Alopecia
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:79364	"" []	222439	\N	\N	EFO	1	EFO	Genetic hair anomaly	Alopecia
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:79364	"" []	578641	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Alopecia
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79364	"" []	1162191	\N	\N	EFO	3	EFO	Rare genetic skin disease	Alopecia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79364	"" []	2045785	\N	\N	EFO	4	EFO	genetic disorder	Alopecia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79364	"" []	2045786	\N	\N	EFO	4	EFO	skin disease	Alopecia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79364	"" []	3195858	\N	\N	EFO	5	EFO	disease	Alopecia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79364	"" []	3195859	\N	\N	EFO	5	EFO	disease	Alopecia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79364	"" []	4401618	\N	\N	EFO	6	EFO	disposition	Alopecia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79364	"" []	5417897	\N	\N	EFO	7	EFO	material property	Alopecia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79364	"" []	6152687	\N	\N	EFO	8	EFO	experimental factor	Alopecia
Orphanet:79365	\N	\N	"" []	Orphanet:79365	"" []	78016	\N	\N	EFO	0	EFO	Hypertrichosis	Hypertrichosis
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:79365	"" []	222440	\N	\N	EFO	1	EFO	Genetic hair anomaly	Hypertrichosis
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:79365	"" []	578642	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Hypertrichosis
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79365	"" []	1162192	\N	\N	EFO	3	EFO	Rare genetic skin disease	Hypertrichosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79365	"" []	2045787	\N	\N	EFO	4	EFO	genetic disorder	Hypertrichosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79365	"" []	2045788	\N	\N	EFO	4	EFO	skin disease	Hypertrichosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79365	"" []	3195860	\N	\N	EFO	5	EFO	disease	Hypertrichosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79365	"" []	3195861	\N	\N	EFO	5	EFO	disease	Hypertrichosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79365	"" []	4401619	\N	\N	EFO	6	EFO	disposition	Hypertrichosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79365	"" []	5417898	\N	\N	EFO	7	EFO	material property	Hypertrichosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79365	"" []	6152688	\N	\N	EFO	8	EFO	experimental factor	Hypertrichosis
Orphanet:79366	\N	\N	"" []	Orphanet:79366	"" []	78017	\N	\N	EFO	0	EFO	Isolated hair shaft abnormality	Isolated hair shaft abnormality
Orphanet:183450	Orphanet:79366	\N	"" []	Orphanet:79366	"" []	222441	\N	\N	EFO	1	EFO	Genetic hair anomaly	Isolated hair shaft abnormality
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:79366	"" []	578643	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Isolated hair shaft abnormality
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79366	"" []	1162193	\N	\N	EFO	3	EFO	Rare genetic skin disease	Isolated hair shaft abnormality
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79366	"" []	2045789	\N	\N	EFO	4	EFO	genetic disorder	Isolated hair shaft abnormality
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79366	"" []	2045790	\N	\N	EFO	4	EFO	skin disease	Isolated hair shaft abnormality
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79366	"" []	3195862	\N	\N	EFO	5	EFO	disease	Isolated hair shaft abnormality
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79366	"" []	3195863	\N	\N	EFO	5	EFO	disease	Isolated hair shaft abnormality
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79366	"" []	4401620	\N	\N	EFO	6	EFO	disposition	Isolated hair shaft abnormality
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79366	"" []	5417899	\N	\N	EFO	7	EFO	material property	Isolated hair shaft abnormality
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79366	"" []	6152689	\N	\N	EFO	8	EFO	experimental factor	Isolated hair shaft abnormality
Orphanet:79367	\N	\N	"" []	Orphanet:79367	"" []	78018	\N	\N	EFO	0	EFO	Syndromic hair shaft abnormality	Syndromic hair shaft abnormality
Orphanet:183450	Orphanet:79367	\N	"" []	Orphanet:79367	"" []	222442	\N	\N	EFO	1	EFO	Genetic hair anomaly	Syndromic hair shaft abnormality
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:79367	"" []	578644	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Syndromic hair shaft abnormality
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79367	"" []	1162194	\N	\N	EFO	3	EFO	Rare genetic skin disease	Syndromic hair shaft abnormality
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79367	"" []	2045791	\N	\N	EFO	4	EFO	genetic disorder	Syndromic hair shaft abnormality
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79367	"" []	2045792	\N	\N	EFO	4	EFO	skin disease	Syndromic hair shaft abnormality
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79367	"" []	3195864	\N	\N	EFO	5	EFO	disease	Syndromic hair shaft abnormality
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79367	"" []	3195865	\N	\N	EFO	5	EFO	disease	Syndromic hair shaft abnormality
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79367	"" []	4401621	\N	\N	EFO	6	EFO	disposition	Syndromic hair shaft abnormality
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79367	"" []	5417900	\N	\N	EFO	7	EFO	material property	Syndromic hair shaft abnormality
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79367	"" []	6152690	\N	\N	EFO	8	EFO	experimental factor	Syndromic hair shaft abnormality
Orphanet:79369	\N	\N	"" []	Orphanet:79369	"" []	78019	\N	\N	EFO	0	EFO	Isolated nail anomaly	Isolated nail anomaly
Orphanet:183454	Orphanet:79369	\N	"" []	Orphanet:79369	"" []	222443	\N	\N	EFO	1	EFO	Genetic nail anomaly	Isolated nail anomaly
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:79369	"" []	578645	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Isolated nail anomaly
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79369	"" []	1162195	\N	\N	EFO	3	EFO	Rare genetic skin disease	Isolated nail anomaly
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79369	"" []	2045793	\N	\N	EFO	4	EFO	genetic disorder	Isolated nail anomaly
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79369	"" []	2045794	\N	\N	EFO	4	EFO	skin disease	Isolated nail anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79369	"" []	3195866	\N	\N	EFO	5	EFO	disease	Isolated nail anomaly
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79369	"" []	3195867	\N	\N	EFO	5	EFO	disease	Isolated nail anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79369	"" []	4401622	\N	\N	EFO	6	EFO	disposition	Isolated nail anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79369	"" []	5417901	\N	\N	EFO	7	EFO	material property	Isolated nail anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79369	"" []	6152691	\N	\N	EFO	8	EFO	experimental factor	Isolated nail anomaly
Orphanet:79370	\N	\N	"" []	Orphanet:79370	"" []	78020	\N	\N	EFO	0	EFO	Syndromic nail anomaly	Syndromic nail anomaly
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:79370	"" []	222444	\N	\N	EFO	1	EFO	Genetic nail anomaly	Syndromic nail anomaly
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:79370	"" []	578646	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Syndromic nail anomaly
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79370	"" []	1162196	\N	\N	EFO	3	EFO	Rare genetic skin disease	Syndromic nail anomaly
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79370	"" []	2045795	\N	\N	EFO	4	EFO	genetic disorder	Syndromic nail anomaly
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79370	"" []	2045796	\N	\N	EFO	4	EFO	skin disease	Syndromic nail anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79370	"" []	3195868	\N	\N	EFO	5	EFO	disease	Syndromic nail anomaly
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79370	"" []	3195869	\N	\N	EFO	5	EFO	disease	Syndromic nail anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79370	"" []	4401623	\N	\N	EFO	6	EFO	disposition	Syndromic nail anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79370	"" []	5417902	\N	\N	EFO	7	EFO	material property	Syndromic nail anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79370	"" []	6152692	\N	\N	EFO	8	EFO	experimental factor	Syndromic nail anomaly
Orphanet:79373	\N	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	78021	\N	\N	EFO	0	EFO	Ectodermal dysplasia syndrome	Ectodermal dysplasia syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	222445	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Ectodermal dysplasia syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	222446	\N	\N	EFO	1	EFO	Genetic epidermal appendage anomaly	Ectodermal dysplasia syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	578647	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ectodermal dysplasia syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	578648	\N	\N	EFO	2	EFO	Rare genetic skin disease	Ectodermal dysplasia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	1162197	\N	\N	EFO	3	EFO	genetic disorder	Ectodermal dysplasia syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	1162198	\N	\N	EFO	3	EFO	genetic disorder	Ectodermal dysplasia syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	1162199	\N	\N	EFO	3	EFO	skin disease	Ectodermal dysplasia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	2045797	\N	\N	EFO	4	EFO	disease	Ectodermal dysplasia syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	2045798	\N	\N	EFO	4	EFO	disease	Ectodermal dysplasia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	3195870	\N	\N	EFO	5	EFO	disposition	Ectodermal dysplasia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	4401624	\N	\N	EFO	6	EFO	material property	Ectodermal dysplasia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79373	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	5417903	\N	\N	EFO	7	EFO	experimental factor	Ectodermal dysplasia syndrome
Orphanet:79383	\N	\N	"" []	Orphanet:79383	"" []	78022	\N	\N	EFO	0	EFO	Lymphedema	Lymphedema
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:79383	"" []	222447	\N	\N	EFO	1	EFO	Rare genetic skin disease	Lymphedema
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79383	"" []	578649	\N	\N	EFO	2	EFO	genetic disorder	Lymphedema
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79383	"" []	578650	\N	\N	EFO	2	EFO	skin disease	Lymphedema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79383	"" []	1162200	\N	\N	EFO	3	EFO	disease	Lymphedema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79383	"" []	1162201	\N	\N	EFO	3	EFO	disease	Lymphedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79383	"" []	2045799	\N	\N	EFO	4	EFO	disposition	Lymphedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79383	"" []	3195871	\N	\N	EFO	5	EFO	material property	Lymphedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79383	"" []	4401625	\N	\N	EFO	6	EFO	experimental factor	Lymphedema
Orphanet:79385	\N	\N	"" []	Orphanet:79385	"" []	78023	\N	\N	EFO	0	EFO	Unclassified genetic skin disorder	Unclassified genetic skin disorder
Orphanet:68346	Orphanet:79385	\N	"" []	Orphanet:79385	"" []	222448	\N	\N	EFO	1	EFO	Rare genetic skin disease	Unclassified genetic skin disorder
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79385	"" []	578651	\N	\N	EFO	2	EFO	genetic disorder	Unclassified genetic skin disorder
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79385	"" []	578652	\N	\N	EFO	2	EFO	skin disease	Unclassified genetic skin disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79385	"" []	1162202	\N	\N	EFO	3	EFO	disease	Unclassified genetic skin disorder
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79385	"" []	1162203	\N	\N	EFO	3	EFO	disease	Unclassified genetic skin disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79385	"" []	2045800	\N	\N	EFO	4	EFO	disposition	Unclassified genetic skin disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79385	"" []	3195872	\N	\N	EFO	5	EFO	material property	Unclassified genetic skin disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79385	"" []	4401626	\N	\N	EFO	6	EFO	experimental factor	Unclassified genetic skin disorder
Orphanet:79387	\N	\N	"" []	Orphanet:79387	"" []	78024	\N	\N	EFO	0	EFO	Metabolic disease with skin involvement	Metabolic disease with skin involvement
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79387	"" []	222449	\N	\N	EFO	1	EFO	Rare genetic skin disease	Metabolic disease with skin involvement
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79387	"" []	578653	\N	\N	EFO	2	EFO	genetic disorder	Metabolic disease with skin involvement
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79387	"" []	578654	\N	\N	EFO	2	EFO	skin disease	Metabolic disease with skin involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79387	"" []	1162204	\N	\N	EFO	3	EFO	disease	Metabolic disease with skin involvement
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79387	"" []	1162205	\N	\N	EFO	3	EFO	disease	Metabolic disease with skin involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79387	"" []	2045801	\N	\N	EFO	4	EFO	disposition	Metabolic disease with skin involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79387	"" []	3195873	\N	\N	EFO	5	EFO	material property	Metabolic disease with skin involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79387	"" []	4401627	\N	\N	EFO	6	EFO	experimental factor	Metabolic disease with skin involvement
Orphanet:79388	\N	\N	"" []	Orphanet:79388	"" []	78025	\N	\N	EFO	0	EFO	Mucopolysaccharidosis with skin involvement	Mucopolysaccharidosis with skin involvement
Orphanet:79387	Orphanet:79388	\N	"" []	Orphanet:79388	"" []	222450	\N	\N	EFO	1	EFO	Metabolic disease with skin involvement	Mucopolysaccharidosis with skin involvement
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79388	"" []	578655	\N	\N	EFO	2	EFO	Rare genetic skin disease	Mucopolysaccharidosis with skin involvement
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79388	"" []	1162206	\N	\N	EFO	3	EFO	genetic disorder	Mucopolysaccharidosis with skin involvement
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79388	"" []	1162207	\N	\N	EFO	3	EFO	skin disease	Mucopolysaccharidosis with skin involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79388	"" []	2045802	\N	\N	EFO	4	EFO	disease	Mucopolysaccharidosis with skin involvement
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79388	"" []	2045803	\N	\N	EFO	4	EFO	disease	Mucopolysaccharidosis with skin involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79388	"" []	3195874	\N	\N	EFO	5	EFO	disposition	Mucopolysaccharidosis with skin involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79388	"" []	4401628	\N	\N	EFO	6	EFO	material property	Mucopolysaccharidosis with skin involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79388	"" []	5417904	\N	\N	EFO	7	EFO	experimental factor	Mucopolysaccharidosis with skin involvement
Orphanet:79389	\N	\N	"" []	Orphanet:79389	"" []	78026	\N	\N	EFO	0	EFO	Premature aging	Premature aging
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:79389	"" []	222451	\N	\N	EFO	1	EFO	Rare genetic skin disease	Premature aging
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79389	"" []	578656	\N	\N	EFO	2	EFO	genetic disorder	Premature aging
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79389	"" []	578657	\N	\N	EFO	2	EFO	skin disease	Premature aging
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79389	"" []	1162208	\N	\N	EFO	3	EFO	disease	Premature aging
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79389	"" []	1162209	\N	\N	EFO	3	EFO	disease	Premature aging
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79389	"" []	2045804	\N	\N	EFO	4	EFO	disposition	Premature aging
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79389	"" []	3195875	\N	\N	EFO	5	EFO	material property	Premature aging
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79389	"" []	4401629	\N	\N	EFO	6	EFO	experimental factor	Premature aging
Orphanet:79394	\N	\N	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	78027	\N	\N	EFO	0	EFO	Congenital non-bullous ichthyosiform erythroderma	Congenital non-bullous ichthyosiform erythroderma
Orphanet:281097	Orphanet:79394	\N	"" []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	222452	\N	\N	EFO	1	EFO	Autosomal recessive congenital ichthyosis	Congenital non-bullous ichthyosiform erythroderma
Orphanet:281082	Orphanet:281097	\N	"" []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	578658	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Congenital non-bullous ichthyosiform erythroderma
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	1162210	\N	\N	EFO	3	EFO	Inherited ichthyosis	Congenital non-bullous ichthyosiform erythroderma
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	2045805	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Congenital non-bullous ichthyosiform erythroderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	3195876	\N	\N	EFO	5	EFO	Rare genetic skin disease	Congenital non-bullous ichthyosiform erythroderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	4401630	\N	\N	EFO	6	EFO	genetic disorder	Congenital non-bullous ichthyosiform erythroderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	4401631	\N	\N	EFO	6	EFO	skin disease	Congenital non-bullous ichthyosiform erythroderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	5417905	\N	\N	EFO	7	EFO	disease	Congenital non-bullous ichthyosiform erythroderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	5417906	\N	\N	EFO	7	EFO	disease	Congenital non-bullous ichthyosiform erythroderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	6152693	\N	\N	EFO	8	EFO	disposition	Congenital non-bullous ichthyosiform erythroderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	6634135	\N	\N	EFO	9	EFO	material property	Congenital non-bullous ichthyosiform erythroderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79394	"Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." []	6926246	\N	\N	EFO	10	EFO	experimental factor	Congenital non-bullous ichthyosiform erythroderma
Orphanet:79395	\N	\N	"" []	Orphanet:79395	"" []	78028	\N	\N	EFO	0	EFO	Keratoderma hereditarium mutilans with ichthyosis	Keratoderma hereditarium mutilans with ichthyosis
Orphanet:281082	Orphanet:79395	\N	"" []	Orphanet:79395	"" []	222453	\N	\N	EFO	1	EFO	Inherited non-syndromic ichthyosis	Keratoderma hereditarium mutilans with ichthyosis
Orphanet:307773	Orphanet:79395	\N	"" []	Orphanet:79395	"" []	222454	\N	\N	EFO	1	EFO	Autosomal dominant diffuse mutilating palmoplantar keratoderma	Keratoderma hereditarium mutilans with ichthyosis
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:79395	"" []	578659	\N	\N	EFO	2	EFO	Inherited ichthyosis	Keratoderma hereditarium mutilans with ichthyosis
Orphanet:98352	Orphanet:307773	\N	"" []	Orphanet:79395	"" []	578660	\N	\N	EFO	2	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Keratoderma hereditarium mutilans with ichthyosis
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:79395	"" []	1162211	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Keratoderma hereditarium mutilans with ichthyosis
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:79395	"" []	1162212	\N	\N	EFO	3	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Keratoderma hereditarium mutilans with ichthyosis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79395	"" []	5417908	\N	\N	EFO	7	EFO	Rare genetic skin disease	Keratoderma hereditarium mutilans with ichthyosis
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:79395	"" []	2045807	\N	\N	EFO	4	EFO	Diffuse palmoplantar keratoderma	Keratoderma hereditarium mutilans with ichthyosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79395	"" []	5817856	\N	\N	EFO	8	EFO	genetic disorder	Keratoderma hereditarium mutilans with ichthyosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79395	"" []	5817857	\N	\N	EFO	8	EFO	skin disease	Keratoderma hereditarium mutilans with ichthyosis
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:79395	"" []	3195879	\N	\N	EFO	5	EFO	Hereditary palmoplantar keratoderma	Keratoderma hereditarium mutilans with ichthyosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79395	"" []	6410353	\N	\N	EFO	9	EFO	disease	Keratoderma hereditarium mutilans with ichthyosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79395	"" []	6410354	\N	\N	EFO	9	EFO	disease	Keratoderma hereditarium mutilans with ichthyosis
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:79395	"" []	4401634	\N	\N	EFO	6	EFO	Genetic epidermal disorder	Keratoderma hereditarium mutilans with ichthyosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79395	"" []	6808165	\N	\N	EFO	10	EFO	disposition	Keratoderma hereditarium mutilans with ichthyosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79395	"" []	7048803	\N	\N	EFO	11	EFO	material property	Keratoderma hereditarium mutilans with ichthyosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79395	"" []	7190255	\N	\N	EFO	12	EFO	experimental factor	Keratoderma hereditarium mutilans with ichthyosis
Orphanet:79396	\N	\N	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	78029	\N	\N	EFO	0	EFO	Epidermolysis bullosa simplex, Dowling-Meara type	Epidermolysis bullosa simplex, Dowling-Meara type
Orphanet:158665	Orphanet:79396	\N	"" []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	222455	\N	\N	EFO	1	EFO	Basal epidermolysis bullosa simplex	Epidermolysis bullosa simplex, Dowling-Meara type
Orphanet:304	Orphanet:158665	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	578661	\N	\N	EFO	2	EFO	Epidermolysis bullosa simplex	Epidermolysis bullosa simplex, Dowling-Meara type
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	1162213	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Epidermolysis bullosa simplex, Dowling-Meara type
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	2045808	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Epidermolysis bullosa simplex, Dowling-Meara type
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	3195880	\N	\N	EFO	5	EFO	Rare genetic skin disease	Epidermolysis bullosa simplex, Dowling-Meara type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	4401635	\N	\N	EFO	6	EFO	genetic disorder	Epidermolysis bullosa simplex, Dowling-Meara type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	4401636	\N	\N	EFO	6	EFO	skin disease	Epidermolysis bullosa simplex, Dowling-Meara type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	5417909	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex, Dowling-Meara type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	5417910	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex, Dowling-Meara type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	6152695	\N	\N	EFO	8	EFO	disposition	Epidermolysis bullosa simplex, Dowling-Meara type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	6634137	\N	\N	EFO	9	EFO	material property	Epidermolysis bullosa simplex, Dowling-Meara type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79396	"Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." []	6926247	\N	\N	EFO	10	EFO	experimental factor	Epidermolysis bullosa simplex, Dowling-Meara type
Orphanet:79397	\N	\N	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	78030	\N	\N	EFO	0	EFO	Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis bullosa simplex with mottled pigmentation
Orphanet:158665	Orphanet:79397	\N	"" []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	222456	\N	\N	EFO	1	EFO	Basal epidermolysis bullosa simplex	Epidermolysis bullosa simplex with mottled pigmentation
Orphanet:304	Orphanet:158665	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	578662	\N	\N	EFO	2	EFO	Epidermolysis bullosa simplex	Epidermolysis bullosa simplex with mottled pigmentation
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	1162214	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Epidermolysis bullosa simplex with mottled pigmentation
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	2045809	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Epidermolysis bullosa simplex with mottled pigmentation
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	3195881	\N	\N	EFO	5	EFO	Rare genetic skin disease	Epidermolysis bullosa simplex with mottled pigmentation
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	4401637	\N	\N	EFO	6	EFO	genetic disorder	Epidermolysis bullosa simplex with mottled pigmentation
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	4401638	\N	\N	EFO	6	EFO	skin disease	Epidermolysis bullosa simplex with mottled pigmentation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	5417911	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex with mottled pigmentation
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	5417912	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex with mottled pigmentation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	6152696	\N	\N	EFO	8	EFO	disposition	Epidermolysis bullosa simplex with mottled pigmentation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	6634138	\N	\N	EFO	9	EFO	material property	Epidermolysis bullosa simplex with mottled pigmentation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79397	"Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." []	6926248	\N	\N	EFO	10	EFO	experimental factor	Epidermolysis bullosa simplex with mottled pigmentation
Orphanet:79399	\N	\N	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	78031	\N	\N	EFO	0	EFO	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Orphanet:158665	Orphanet:79399	\N	"" []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	222457	\N	\N	EFO	1	EFO	Basal epidermolysis bullosa simplex	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Orphanet:304	Orphanet:158665	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	578663	\N	\N	EFO	2	EFO	Epidermolysis bullosa simplex	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	1162215	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	2045810	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	3195882	\N	\N	EFO	5	EFO	Rare genetic skin disease	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	4401639	\N	\N	EFO	6	EFO	genetic disorder	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	4401640	\N	\N	EFO	6	EFO	skin disease	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	5417913	\N	\N	EFO	7	EFO	disease	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	5417914	\N	\N	EFO	7	EFO	disease	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	6152697	\N	\N	EFO	8	EFO	disposition	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	6634139	\N	\N	EFO	9	EFO	material property	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79399	"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." []	6926249	\N	\N	EFO	10	EFO	experimental factor	Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Orphanet:794	\N	\N	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	78032	\N	\N	EFO	0	EFO	Saethre-Chotzen syndrome	Saethre-Chotzen syndrome
Orphanet:183422	Orphanet:794	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	222458	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Saethre-Chotzen syndrome
Orphanet:946	Orphanet:794	\N	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	222459	\N	\N	EFO	1	EFO	Acrocephalosyndactyly	Saethre-Chotzen syndrome
Orphanet:98578	Orphanet:794	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	222460	\N	\N	EFO	1	EFO	Ptosis	Saethre-Chotzen syndrome
Orphanet:98684	Orphanet:794	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	222461	\N	\N	EFO	1	EFO	Craniostenosis associated with a strabismus	Saethre-Chotzen syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	578664	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Saethre-Chotzen syndrome
Orphanet:139393	Orphanet:946	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	578665	\N	\N	EFO	2	EFO	Syndromic craniosynostosis	Saethre-Chotzen syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	578666	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Saethre-Chotzen syndrome
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	578667	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Saethre-Chotzen syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	1162216	\N	\N	EFO	3	EFO	genetic disorder	Saethre-Chotzen syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	1162217	\N	\N	EFO	3	EFO	Craniosynostosis	Saethre-Chotzen syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	1162218	\N	\N	EFO	3	EFO	Rare palpebral disease	Saethre-Chotzen syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	1162219	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Saethre-Chotzen syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	5998670	\N	\N	EFO	8	EFO	disease	Saethre-Chotzen syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	2045812	\N	\N	EFO	4	EFO	Genetic cranial malformation	Saethre-Chotzen syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	2045813	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Saethre-Chotzen syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	2045814	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Saethre-Chotzen syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	2045815	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Saethre-Chotzen syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	6378989	\N	\N	EFO	9	EFO	disposition	Saethre-Chotzen syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	3195884	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Saethre-Chotzen syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	3195885	\N	\N	EFO	5	EFO	Rare genetic bone disease	Saethre-Chotzen syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	3195886	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Saethre-Chotzen syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	3195887	\N	\N	EFO	5	EFO	Rare genetic eye disease	Saethre-Chotzen syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	3195888	\N	\N	EFO	5	EFO	Rare genetic eye disease	Saethre-Chotzen syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	6778822	\N	\N	EFO	10	EFO	material property	Saethre-Chotzen syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	5417918	\N	\N	EFO	7	EFO	genetic disorder	Saethre-Chotzen syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	4401643	\N	\N	EFO	6	EFO	genetic disorder	Saethre-Chotzen syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	4401644	\N	\N	EFO	6	EFO	bone disease	Saethre-Chotzen syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	4401645	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Saethre-Chotzen syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	4401646	\N	\N	EFO	6	EFO	genetic disorder	Saethre-Chotzen syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	4401647	\N	\N	EFO	6	EFO	eye disease	Saethre-Chotzen syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	7030013	\N	\N	EFO	11	EFO	experimental factor	Saethre-Chotzen syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	5417917	\N	\N	EFO	7	EFO	skeletal system disease	Saethre-Chotzen syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	5417919	\N	\N	EFO	7	EFO	disease	Saethre-Chotzen syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:794	"Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." []	6152698	\N	\N	EFO	8	EFO	disease	Saethre-Chotzen syndrome
Orphanet:79400	\N	\N	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	78033	\N	\N	EFO	0	EFO	Localized epidermolysis bullosa simplex	Localized epidermolysis bullosa simplex
Orphanet:158665	Orphanet:79400	\N	"" []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	222462	\N	\N	EFO	1	EFO	Basal epidermolysis bullosa simplex	Localized epidermolysis bullosa simplex
Orphanet:304	Orphanet:158665	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	578668	\N	\N	EFO	2	EFO	Epidermolysis bullosa simplex	Localized epidermolysis bullosa simplex
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	1162220	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Localized epidermolysis bullosa simplex
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	2045816	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Localized epidermolysis bullosa simplex
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	3195889	\N	\N	EFO	5	EFO	Rare genetic skin disease	Localized epidermolysis bullosa simplex
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	4401648	\N	\N	EFO	6	EFO	genetic disorder	Localized epidermolysis bullosa simplex
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	4401649	\N	\N	EFO	6	EFO	skin disease	Localized epidermolysis bullosa simplex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	5417920	\N	\N	EFO	7	EFO	disease	Localized epidermolysis bullosa simplex
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	5417921	\N	\N	EFO	7	EFO	disease	Localized epidermolysis bullosa simplex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	6152699	\N	\N	EFO	8	EFO	disposition	Localized epidermolysis bullosa simplex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	6634140	\N	\N	EFO	9	EFO	material property	Localized epidermolysis bullosa simplex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79400	"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." []	6926250	\N	\N	EFO	10	EFO	experimental factor	Localized epidermolysis bullosa simplex
Orphanet:79401	\N	\N	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	78034	\N	\N	EFO	0	EFO	Epidermolysis bullosa simplex, Ogna type	Epidermolysis bullosa simplex, Ogna type
Orphanet:158665	Orphanet:79401	\N	"" []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	222463	\N	\N	EFO	1	EFO	Basal epidermolysis bullosa simplex	Epidermolysis bullosa simplex, Ogna type
Orphanet:304	Orphanet:158665	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	578669	\N	\N	EFO	2	EFO	Epidermolysis bullosa simplex	Epidermolysis bullosa simplex, Ogna type
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	1162221	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Epidermolysis bullosa simplex, Ogna type
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	2045817	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Epidermolysis bullosa simplex, Ogna type
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	3195890	\N	\N	EFO	5	EFO	Rare genetic skin disease	Epidermolysis bullosa simplex, Ogna type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	4401650	\N	\N	EFO	6	EFO	genetic disorder	Epidermolysis bullosa simplex, Ogna type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	4401651	\N	\N	EFO	6	EFO	skin disease	Epidermolysis bullosa simplex, Ogna type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	5417922	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex, Ogna type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	5417923	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex, Ogna type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	6152700	\N	\N	EFO	8	EFO	disposition	Epidermolysis bullosa simplex, Ogna type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	6634141	\N	\N	EFO	9	EFO	material property	Epidermolysis bullosa simplex, Ogna type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79401	"Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." []	6926251	\N	\N	EFO	10	EFO	experimental factor	Epidermolysis bullosa simplex, Ogna type
Orphanet:79402	\N	\N	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	78035	\N	\N	EFO	0	EFO	Generalized junctional epidermolysis bullosa, non-Herlitz type	Generalized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:89840	Orphanet:79402	\N	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	222464	\N	\N	EFO	1	EFO	Junctional epidermolysis bullosa, non-Herlitz type	Generalized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:305	Orphanet:89840	\N	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	578670	\N	\N	EFO	2	EFO	Junctional epidermolysis bullosa	Generalized junctional epidermolysis bullosa, non-Herlitz type
EFO:1000690	Orphanet:305	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	1162222	\N	\N	EFO	3	EFO	epidermolysis bullosa	Generalized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:139027	Orphanet:305	\N	"" []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	1162223	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Generalized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:79361	Orphanet:305	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	1162224	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Generalized junctional epidermolysis bullosa, non-Herlitz type
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	2045818	\N	\N	EFO	4	EFO	vesiculobullous skin disease	Generalized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	2045819	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Generalized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	2045820	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Generalized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	3195891	\N	\N	EFO	5	EFO	skin disease	Generalized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	3195892	\N	\N	EFO	5	EFO	genetic disorder	Generalized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	3195893	\N	\N	EFO	5	EFO	Rare genetic skin disease	Generalized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	5417926	\N	\N	EFO	7	EFO	disease	Generalized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	5417925	\N	\N	EFO	7	EFO	disease	Generalized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	4401654	\N	\N	EFO	6	EFO	genetic disorder	Generalized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	4401655	\N	\N	EFO	6	EFO	skin disease	Generalized junctional epidermolysis bullosa, non-Herlitz type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	5998671	\N	\N	EFO	8	EFO	disposition	Generalized junctional epidermolysis bullosa, non-Herlitz type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	6551726	\N	\N	EFO	9	EFO	material property	Generalized junctional epidermolysis bullosa, non-Herlitz type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79402	"Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." []	6889528	\N	\N	EFO	10	EFO	experimental factor	Generalized junctional epidermolysis bullosa, non-Herlitz type
Orphanet:79403	\N	\N	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	78036	\N	\N	EFO	0	EFO	Junctional epidermolysis bullosa - pyloric atresia	Junctional epidermolysis bullosa - pyloric atresia
Orphanet:305	Orphanet:79403	\N	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	222465	\N	\N	EFO	1	EFO	Junctional epidermolysis bullosa	Junctional epidermolysis bullosa - pyloric atresia
EFO:1000690	Orphanet:305	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	578671	\N	\N	EFO	2	EFO	epidermolysis bullosa	Junctional epidermolysis bullosa - pyloric atresia
Orphanet:139027	Orphanet:305	\N	"" []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	578672	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Junctional epidermolysis bullosa - pyloric atresia
Orphanet:79361	Orphanet:305	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	578673	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Junctional epidermolysis bullosa - pyloric atresia
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	1162225	\N	\N	EFO	3	EFO	vesiculobullous skin disease	Junctional epidermolysis bullosa - pyloric atresia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	1162226	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Junctional epidermolysis bullosa - pyloric atresia
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	1162227	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Junctional epidermolysis bullosa - pyloric atresia
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	2045821	\N	\N	EFO	4	EFO	skin disease	Junctional epidermolysis bullosa - pyloric atresia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	2045822	\N	\N	EFO	4	EFO	genetic disorder	Junctional epidermolysis bullosa - pyloric atresia
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	2045823	\N	\N	EFO	4	EFO	Rare genetic skin disease	Junctional epidermolysis bullosa - pyloric atresia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	4401658	\N	\N	EFO	6	EFO	disease	Junctional epidermolysis bullosa - pyloric atresia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	4401657	\N	\N	EFO	6	EFO	disease	Junctional epidermolysis bullosa - pyloric atresia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	3195896	\N	\N	EFO	5	EFO	genetic disorder	Junctional epidermolysis bullosa - pyloric atresia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	3195897	\N	\N	EFO	5	EFO	skin disease	Junctional epidermolysis bullosa - pyloric atresia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	5183327	\N	\N	EFO	7	EFO	disposition	Junctional epidermolysis bullosa - pyloric atresia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	5998672	\N	\N	EFO	8	EFO	material property	Junctional epidermolysis bullosa - pyloric atresia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79403	"Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." []	6551727	\N	\N	EFO	9	EFO	experimental factor	Junctional epidermolysis bullosa - pyloric atresia
Orphanet:79404	\N	\N	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	78037	\N	\N	EFO	0	EFO	Junctional epidermolysis bullosa, Herlitz type	Junctional epidermolysis bullosa, Herlitz type
Orphanet:263676	Orphanet:79404	\N	"" []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	222466	\N	\N	EFO	1	EFO	Hereditary epidermolysis bullosa associated with ocular features	Junctional epidermolysis bullosa, Herlitz type
Orphanet:305	Orphanet:79404	\N	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	222467	\N	\N	EFO	1	EFO	Junctional epidermolysis bullosa	Junctional epidermolysis bullosa, Herlitz type
Orphanet:98696	Orphanet:263676	\N	"" []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	578674	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Junctional epidermolysis bullosa, Herlitz type
EFO:1000690	Orphanet:305	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	578675	\N	\N	EFO	2	EFO	epidermolysis bullosa	Junctional epidermolysis bullosa, Herlitz type
Orphanet:139027	Orphanet:305	\N	"" []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	578676	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Junctional epidermolysis bullosa, Herlitz type
Orphanet:79361	Orphanet:305	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	578677	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Junctional epidermolysis bullosa, Herlitz type
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	1162228	\N	\N	EFO	3	EFO	Rare genetic eye disease	Junctional epidermolysis bullosa, Herlitz type
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	1162229	\N	\N	EFO	3	EFO	vesiculobullous skin disease	Junctional epidermolysis bullosa, Herlitz type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	1162230	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Junctional epidermolysis bullosa, Herlitz type
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	1162231	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Junctional epidermolysis bullosa, Herlitz type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	2045824	\N	\N	EFO	4	EFO	genetic disorder	Junctional epidermolysis bullosa, Herlitz type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	2045825	\N	\N	EFO	4	EFO	eye disease	Junctional epidermolysis bullosa, Herlitz type
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	2045826	\N	\N	EFO	4	EFO	skin disease	Junctional epidermolysis bullosa, Herlitz type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	2045827	\N	\N	EFO	4	EFO	genetic disorder	Junctional epidermolysis bullosa, Herlitz type
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	2045828	\N	\N	EFO	4	EFO	Rare genetic skin disease	Junctional epidermolysis bullosa, Herlitz type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	4401660	\N	\N	EFO	6	EFO	disease	Junctional epidermolysis bullosa, Herlitz type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	3195899	\N	\N	EFO	5	EFO	disease	Junctional epidermolysis bullosa, Herlitz type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	4401661	\N	\N	EFO	6	EFO	disease	Junctional epidermolysis bullosa, Herlitz type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	3195901	\N	\N	EFO	5	EFO	genetic disorder	Junctional epidermolysis bullosa, Herlitz type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	3195902	\N	\N	EFO	5	EFO	skin disease	Junctional epidermolysis bullosa, Herlitz type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	5183328	\N	\N	EFO	7	EFO	disposition	Junctional epidermolysis bullosa, Herlitz type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	5998673	\N	\N	EFO	8	EFO	material property	Junctional epidermolysis bullosa, Herlitz type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79404	"Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." []	6551728	\N	\N	EFO	9	EFO	experimental factor	Junctional epidermolysis bullosa, Herlitz type
Orphanet:79405	\N	\N	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	78038	\N	\N	EFO	0	EFO	Junctional epidermolysis bullosa inversa	Junctional epidermolysis bullosa inversa
Orphanet:305	Orphanet:79405	\N	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	222468	\N	\N	EFO	1	EFO	Junctional epidermolysis bullosa	Junctional epidermolysis bullosa inversa
EFO:1000690	Orphanet:305	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	578678	\N	\N	EFO	2	EFO	epidermolysis bullosa	Junctional epidermolysis bullosa inversa
Orphanet:139027	Orphanet:305	\N	"" []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	578679	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Junctional epidermolysis bullosa inversa
Orphanet:79361	Orphanet:305	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	578680	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Junctional epidermolysis bullosa inversa
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	1162232	\N	\N	EFO	3	EFO	vesiculobullous skin disease	Junctional epidermolysis bullosa inversa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	1162233	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Junctional epidermolysis bullosa inversa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	1162234	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Junctional epidermolysis bullosa inversa
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	2045829	\N	\N	EFO	4	EFO	skin disease	Junctional epidermolysis bullosa inversa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	2045830	\N	\N	EFO	4	EFO	genetic disorder	Junctional epidermolysis bullosa inversa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	2045831	\N	\N	EFO	4	EFO	Rare genetic skin disease	Junctional epidermolysis bullosa inversa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	4401664	\N	\N	EFO	6	EFO	disease	Junctional epidermolysis bullosa inversa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	4401663	\N	\N	EFO	6	EFO	disease	Junctional epidermolysis bullosa inversa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	3195905	\N	\N	EFO	5	EFO	genetic disorder	Junctional epidermolysis bullosa inversa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	3195906	\N	\N	EFO	5	EFO	skin disease	Junctional epidermolysis bullosa inversa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	5183329	\N	\N	EFO	7	EFO	disposition	Junctional epidermolysis bullosa inversa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	5998674	\N	\N	EFO	8	EFO	material property	Junctional epidermolysis bullosa inversa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79405	"Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." []	6551729	\N	\N	EFO	9	EFO	experimental factor	Junctional epidermolysis bullosa inversa
Orphanet:79406	\N	\N	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	78039	\N	\N	EFO	0	EFO	Late-onset junctional epidermolysis bullosa	Late-onset junctional epidermolysis bullosa
Orphanet:305	Orphanet:79406	\N	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	222469	\N	\N	EFO	1	EFO	Junctional epidermolysis bullosa	Late-onset junctional epidermolysis bullosa
EFO:1000690	Orphanet:305	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	578681	\N	\N	EFO	2	EFO	epidermolysis bullosa	Late-onset junctional epidermolysis bullosa
Orphanet:139027	Orphanet:305	\N	"" []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	578682	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Late-onset junctional epidermolysis bullosa
Orphanet:79361	Orphanet:305	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	578683	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Late-onset junctional epidermolysis bullosa
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	1162235	\N	\N	EFO	3	EFO	vesiculobullous skin disease	Late-onset junctional epidermolysis bullosa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	1162236	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Late-onset junctional epidermolysis bullosa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	1162237	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Late-onset junctional epidermolysis bullosa
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	2045832	\N	\N	EFO	4	EFO	skin disease	Late-onset junctional epidermolysis bullosa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	2045833	\N	\N	EFO	4	EFO	genetic disorder	Late-onset junctional epidermolysis bullosa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	2045834	\N	\N	EFO	4	EFO	Rare genetic skin disease	Late-onset junctional epidermolysis bullosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	4401667	\N	\N	EFO	6	EFO	disease	Late-onset junctional epidermolysis bullosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	4401666	\N	\N	EFO	6	EFO	disease	Late-onset junctional epidermolysis bullosa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	3195909	\N	\N	EFO	5	EFO	genetic disorder	Late-onset junctional epidermolysis bullosa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	3195910	\N	\N	EFO	5	EFO	skin disease	Late-onset junctional epidermolysis bullosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	5183330	\N	\N	EFO	7	EFO	disposition	Late-onset junctional epidermolysis bullosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	5998675	\N	\N	EFO	8	EFO	material property	Late-onset junctional epidermolysis bullosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79406	"Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." []	6551730	\N	\N	EFO	9	EFO	experimental factor	Late-onset junctional epidermolysis bullosa
Orphanet:79408	\N	\N	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	78040	\N	\N	EFO	0	EFO	Severe generalized recessive dystrophic epidermolysis bullosa	Severe generalized recessive dystrophic epidermolysis bullosa
Orphanet:263676	Orphanet:79408	\N	"" []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	222470	\N	\N	EFO	1	EFO	Hereditary epidermolysis bullosa associated with ocular features	Severe generalized recessive dystrophic epidermolysis bullosa
Orphanet:303	Orphanet:79408	\N	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	222471	\N	\N	EFO	1	EFO	Dystrophic epidermolysis bullosa	Severe generalized recessive dystrophic epidermolysis bullosa
Orphanet:98696	Orphanet:263676	\N	"" []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	578684	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Severe generalized recessive dystrophic epidermolysis bullosa
Orphanet:139027	Orphanet:303	\N	"" []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	578685	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Severe generalized recessive dystrophic epidermolysis bullosa
Orphanet:79361	Orphanet:303	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	578686	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Severe generalized recessive dystrophic epidermolysis bullosa
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	1162238	\N	\N	EFO	3	EFO	Rare genetic eye disease	Severe generalized recessive dystrophic epidermolysis bullosa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	1162239	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Severe generalized recessive dystrophic epidermolysis bullosa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	1162240	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Severe generalized recessive dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	2045835	\N	\N	EFO	4	EFO	genetic disorder	Severe generalized recessive dystrophic epidermolysis bullosa
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	2045836	\N	\N	EFO	4	EFO	eye disease	Severe generalized recessive dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	2045837	\N	\N	EFO	4	EFO	genetic disorder	Severe generalized recessive dystrophic epidermolysis bullosa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	2045838	\N	\N	EFO	4	EFO	Rare genetic skin disease	Severe generalized recessive dystrophic epidermolysis bullosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	4401669	\N	\N	EFO	6	EFO	disease	Severe generalized recessive dystrophic epidermolysis bullosa
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	3195912	\N	\N	EFO	5	EFO	disease	Severe generalized recessive dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	3195913	\N	\N	EFO	5	EFO	genetic disorder	Severe generalized recessive dystrophic epidermolysis bullosa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	3195914	\N	\N	EFO	5	EFO	skin disease	Severe generalized recessive dystrophic epidermolysis bullosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	5183331	\N	\N	EFO	7	EFO	disposition	Severe generalized recessive dystrophic epidermolysis bullosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	4401670	\N	\N	EFO	6	EFO	disease	Severe generalized recessive dystrophic epidermolysis bullosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	5998676	\N	\N	EFO	8	EFO	material property	Severe generalized recessive dystrophic epidermolysis bullosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79408	"Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." []	6551731	\N	\N	EFO	9	EFO	experimental factor	Severe generalized recessive dystrophic epidermolysis bullosa
Orphanet:79409	\N	\N	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	78041	\N	\N	EFO	0	EFO	Recessive dystrophic epidermolysis bullosa inversa	Recessive dystrophic epidermolysis bullosa inversa
Orphanet:303	Orphanet:79409	\N	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	222472	\N	\N	EFO	1	EFO	Dystrophic epidermolysis bullosa	Recessive dystrophic epidermolysis bullosa inversa
Orphanet:139027	Orphanet:303	\N	"" []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	578687	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Recessive dystrophic epidermolysis bullosa inversa
Orphanet:79361	Orphanet:303	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	578688	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Recessive dystrophic epidermolysis bullosa inversa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	1162241	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Recessive dystrophic epidermolysis bullosa inversa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	1162242	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Recessive dystrophic epidermolysis bullosa inversa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	2045839	\N	\N	EFO	4	EFO	genetic disorder	Recessive dystrophic epidermolysis bullosa inversa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	2045840	\N	\N	EFO	4	EFO	Rare genetic skin disease	Recessive dystrophic epidermolysis bullosa inversa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	4401672	\N	\N	EFO	6	EFO	disease	Recessive dystrophic epidermolysis bullosa inversa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	3195916	\N	\N	EFO	5	EFO	genetic disorder	Recessive dystrophic epidermolysis bullosa inversa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	3195917	\N	\N	EFO	5	EFO	skin disease	Recessive dystrophic epidermolysis bullosa inversa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	5183332	\N	\N	EFO	7	EFO	disposition	Recessive dystrophic epidermolysis bullosa inversa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	4401673	\N	\N	EFO	6	EFO	disease	Recessive dystrophic epidermolysis bullosa inversa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	5998677	\N	\N	EFO	8	EFO	material property	Recessive dystrophic epidermolysis bullosa inversa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79409	"Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." []	6551732	\N	\N	EFO	9	EFO	experimental factor	Recessive dystrophic epidermolysis bullosa inversa
Orphanet:79410	\N	\N	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	78042	\N	\N	EFO	0	EFO	Pretibial dystrophic epidermolysis bullosa	Pretibial dystrophic epidermolysis bullosa
Orphanet:303	Orphanet:79410	\N	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	222473	\N	\N	EFO	1	EFO	Dystrophic epidermolysis bullosa	Pretibial dystrophic epidermolysis bullosa
Orphanet:139027	Orphanet:303	\N	"" []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	578689	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Pretibial dystrophic epidermolysis bullosa
Orphanet:79361	Orphanet:303	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	578690	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Pretibial dystrophic epidermolysis bullosa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	1162243	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pretibial dystrophic epidermolysis bullosa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	1162244	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Pretibial dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	2045841	\N	\N	EFO	4	EFO	genetic disorder	Pretibial dystrophic epidermolysis bullosa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	2045842	\N	\N	EFO	4	EFO	Rare genetic skin disease	Pretibial dystrophic epidermolysis bullosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	4401675	\N	\N	EFO	6	EFO	disease	Pretibial dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	3195919	\N	\N	EFO	5	EFO	genetic disorder	Pretibial dystrophic epidermolysis bullosa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	3195920	\N	\N	EFO	5	EFO	skin disease	Pretibial dystrophic epidermolysis bullosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	5183333	\N	\N	EFO	7	EFO	disposition	Pretibial dystrophic epidermolysis bullosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	4401676	\N	\N	EFO	6	EFO	disease	Pretibial dystrophic epidermolysis bullosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	5998678	\N	\N	EFO	8	EFO	material property	Pretibial dystrophic epidermolysis bullosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79410	"Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." []	6551733	\N	\N	EFO	9	EFO	experimental factor	Pretibial dystrophic epidermolysis bullosa
Orphanet:79411	\N	\N	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	78043	\N	\N	EFO	0	EFO	Transient bullous dermolysis of the newborn	Transient bullous dermolysis of the newborn
Orphanet:303	Orphanet:79411	\N	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	222474	\N	\N	EFO	1	EFO	Dystrophic epidermolysis bullosa	Transient bullous dermolysis of the newborn
Orphanet:139027	Orphanet:303	\N	"" []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	578691	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Transient bullous dermolysis of the newborn
Orphanet:79361	Orphanet:303	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	578692	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Transient bullous dermolysis of the newborn
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	1162245	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Transient bullous dermolysis of the newborn
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	1162246	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Transient bullous dermolysis of the newborn
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	2045843	\N	\N	EFO	4	EFO	genetic disorder	Transient bullous dermolysis of the newborn
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	2045844	\N	\N	EFO	4	EFO	Rare genetic skin disease	Transient bullous dermolysis of the newborn
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	4401678	\N	\N	EFO	6	EFO	disease	Transient bullous dermolysis of the newborn
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	3195922	\N	\N	EFO	5	EFO	genetic disorder	Transient bullous dermolysis of the newborn
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	3195923	\N	\N	EFO	5	EFO	skin disease	Transient bullous dermolysis of the newborn
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	5183334	\N	\N	EFO	7	EFO	disposition	Transient bullous dermolysis of the newborn
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	4401679	\N	\N	EFO	6	EFO	disease	Transient bullous dermolysis of the newborn
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	5998679	\N	\N	EFO	8	EFO	material property	Transient bullous dermolysis of the newborn
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79411	"Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." []	6551734	\N	\N	EFO	9	EFO	experimental factor	Transient bullous dermolysis of the newborn
Orphanet:79414	\N	\N	"" []	Orphanet:79414	"" []	78044	\N	\N	EFO	0	EFO	Woolly hair nevus	Woolly hair nevus
Orphanet:79366	Orphanet:79414	\N	"" []	Orphanet:79414	"" []	222475	\N	\N	EFO	1	EFO	Isolated hair shaft abnormality	Woolly hair nevus
Orphanet:183450	Orphanet:79366	\N	"" []	Orphanet:79414	"" []	578693	\N	\N	EFO	2	EFO	Genetic hair anomaly	Woolly hair nevus
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:79414	"" []	1162247	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Woolly hair nevus
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79414	"" []	2045845	\N	\N	EFO	4	EFO	Rare genetic skin disease	Woolly hair nevus
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79414	"" []	3195924	\N	\N	EFO	5	EFO	genetic disorder	Woolly hair nevus
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79414	"" []	3195925	\N	\N	EFO	5	EFO	skin disease	Woolly hair nevus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79414	"" []	4401680	\N	\N	EFO	6	EFO	disease	Woolly hair nevus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79414	"" []	4401681	\N	\N	EFO	6	EFO	disease	Woolly hair nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79414	"" []	5417935	\N	\N	EFO	7	EFO	disposition	Woolly hair nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79414	"" []	6152710	\N	\N	EFO	8	EFO	material property	Woolly hair nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79414	"" []	6634143	\N	\N	EFO	9	EFO	experimental factor	Woolly hair nevus
Orphanet:79430	\N	\N	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	78045	\N	\N	EFO	0	EFO	Hermansky-Pudlak syndrome	Hermansky-Pudlak syndrome
Orphanet:284811	Orphanet:79430	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	222476	\N	\N	EFO	1	EFO	Syndromic oculocutaneous albinism	Hermansky-Pudlak syndrome
Orphanet:309340	Orphanet:79430	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	222477	\N	\N	EFO	1	EFO	Disorder of lysosomal-related organelles	Hermansky-Pudlak syndrome
Orphanet:98456	Orphanet:79430	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	222478	\N	\N	EFO	1	EFO	Dense granule disease	Hermansky-Pudlak syndrome
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	578694	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Hermansky-Pudlak syndrome
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	578695	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Hermansky-Pudlak syndrome
Orphanet:68367	Orphanet:309340	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	578696	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Hermansky-Pudlak syndrome
Orphanet:98454	Orphanet:98456	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	578697	\N	\N	EFO	2	EFO	Platelet storage pool disease	Hermansky-Pudlak syndrome
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	1162248	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Hermansky-Pudlak syndrome
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	1162249	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Hermansky-Pudlak syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	1162250	\N	\N	EFO	3	EFO	genetic disorder	Hermansky-Pudlak syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	1162251	\N	\N	EFO	3	EFO	metabolic disease	Hermansky-Pudlak syndrome
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	1162252	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Hermansky-Pudlak syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	2045846	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hermansky-Pudlak syndrome
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	2045847	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Hermansky-Pudlak syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	6152711	\N	\N	EFO	8	EFO	disease	Hermansky-Pudlak syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	2045849	\N	\N	EFO	4	EFO	disease	Hermansky-Pudlak syndrome
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	2045850	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Hermansky-Pudlak syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	3195926	\N	\N	EFO	5	EFO	genetic disorder	Hermansky-Pudlak syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	3195927	\N	\N	EFO	5	EFO	skin disease	Hermansky-Pudlak syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	3195928	\N	\N	EFO	5	EFO	Rare genetic eye disease	Hermansky-Pudlak syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	6378990	\N	\N	EFO	9	EFO	disposition	Hermansky-Pudlak syndrome
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	3195930	\N	\N	EFO	5	EFO	Rare genetic coagulation disorder	Hermansky-Pudlak syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	4401683	\N	\N	EFO	6	EFO	disease	Hermansky-Pudlak syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	4401684	\N	\N	EFO	6	EFO	genetic disorder	Hermansky-Pudlak syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	4401685	\N	\N	EFO	6	EFO	eye disease	Hermansky-Pudlak syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	6778823	\N	\N	EFO	10	EFO	material property	Hermansky-Pudlak syndrome
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	4401687	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Hermansky-Pudlak syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	5417937	\N	\N	EFO	7	EFO	disease	Hermansky-Pudlak syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	7030014	\N	\N	EFO	11	EFO	experimental factor	Hermansky-Pudlak syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	5417939	\N	\N	EFO	7	EFO	genetic disorder	Hermansky-Pudlak syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	5417940	\N	\N	EFO	7	EFO	hematological system disease	Hermansky-Pudlak syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79430	"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." []	6152712	\N	\N	EFO	8	EFO	disease	Hermansky-Pudlak syndrome
Orphanet:79431	\N	\N	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	78046	\N	\N	EFO	0	EFO	Oculocutaneous albinism type 1A	Oculocutaneous albinism type 1A
Orphanet:352731	Orphanet:79431	\N	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	222479	\N	\N	EFO	1	EFO	Oculocutaneous albinism type 1	Oculocutaneous albinism type 1A
Orphanet:55	Orphanet:352731	\N	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	578698	\N	\N	EFO	2	EFO	Oculocutaneous albinism	Oculocutaneous albinism type 1A
Orphanet:183469	Orphanet:55	\N	"" []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	1162253	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Oculocutaneous albinism type 1A
Orphanet:352728	Orphanet:55	\N	"" []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	1162254	\N	\N	EFO	3	EFO	Disorder of melanin metabolism	Oculocutaneous albinism type 1A
Orphanet:98706	Orphanet:55	\N	"" []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	1162255	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Oculocutaneous albinism type 1A
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	2045851	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Oculocutaneous albinism type 1A
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	2045852	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Oculocutaneous albinism type 1A
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	2045853	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Oculocutaneous albinism type 1A
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	3195931	\N	\N	EFO	5	EFO	Rare genetic skin disease	Oculocutaneous albinism type 1A
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	3195932	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Oculocutaneous albinism type 1A
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	3195933	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Oculocutaneous albinism type 1A
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	4401688	\N	\N	EFO	6	EFO	genetic disorder	Oculocutaneous albinism type 1A
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	4401689	\N	\N	EFO	6	EFO	skin disease	Oculocutaneous albinism type 1A
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	4401690	\N	\N	EFO	6	EFO	genetic disorder	Oculocutaneous albinism type 1A
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	4401691	\N	\N	EFO	6	EFO	metabolic disease	Oculocutaneous albinism type 1A
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	4401692	\N	\N	EFO	6	EFO	Rare genetic eye disease	Oculocutaneous albinism type 1A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	6152714	\N	\N	EFO	8	EFO	disease	Oculocutaneous albinism type 1A
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	5417942	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 1A
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	5417943	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 1A
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	5417944	\N	\N	EFO	7	EFO	genetic disorder	Oculocutaneous albinism type 1A
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	5417945	\N	\N	EFO	7	EFO	eye disease	Oculocutaneous albinism type 1A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	6551735	\N	\N	EFO	9	EFO	disposition	Oculocutaneous albinism type 1A
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	6152715	\N	\N	EFO	8	EFO	disease	Oculocutaneous albinism type 1A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	6889529	\N	\N	EFO	10	EFO	material property	Oculocutaneous albinism type 1A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79431	"Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." []	7086057	\N	\N	EFO	11	EFO	experimental factor	Oculocutaneous albinism type 1A
Orphanet:79432	\N	\N	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	78047	\N	\N	EFO	0	EFO	Oculocutaneous albinism type 2	Oculocutaneous albinism type 2
Orphanet:55	Orphanet:79432	\N	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	222480	\N	\N	EFO	1	EFO	Oculocutaneous albinism	Oculocutaneous albinism type 2
Orphanet:183469	Orphanet:55	\N	"" []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	578699	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Oculocutaneous albinism type 2
Orphanet:352728	Orphanet:55	\N	"" []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	578700	\N	\N	EFO	2	EFO	Disorder of melanin metabolism	Oculocutaneous albinism type 2
Orphanet:98706	Orphanet:55	\N	"" []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	578701	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Oculocutaneous albinism type 2
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	1162256	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Oculocutaneous albinism type 2
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	1162257	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Oculocutaneous albinism type 2
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	1162258	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Oculocutaneous albinism type 2
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	2045854	\N	\N	EFO	4	EFO	Rare genetic skin disease	Oculocutaneous albinism type 2
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	2045855	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Oculocutaneous albinism type 2
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	2045856	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Oculocutaneous albinism type 2
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	3195934	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 2
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	3195935	\N	\N	EFO	5	EFO	skin disease	Oculocutaneous albinism type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	3195936	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	3195937	\N	\N	EFO	5	EFO	metabolic disease	Oculocutaneous albinism type 2
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	3195938	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oculocutaneous albinism type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	5417947	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 2
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	4401694	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	4401695	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	4401696	\N	\N	EFO	6	EFO	genetic disorder	Oculocutaneous albinism type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	4401697	\N	\N	EFO	6	EFO	eye disease	Oculocutaneous albinism type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	5998680	\N	\N	EFO	8	EFO	disposition	Oculocutaneous albinism type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	5417948	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	6551736	\N	\N	EFO	9	EFO	material property	Oculocutaneous albinism type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79432	"Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." []	6889530	\N	\N	EFO	10	EFO	experimental factor	Oculocutaneous albinism type 2
Orphanet:79433	\N	\N	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	78048	\N	\N	EFO	0	EFO	Oculocutaneous albinism type 3	Oculocutaneous albinism type 3
Orphanet:55	Orphanet:79433	\N	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	222481	\N	\N	EFO	1	EFO	Oculocutaneous albinism	Oculocutaneous albinism type 3
Orphanet:183469	Orphanet:55	\N	"" []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	578702	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Oculocutaneous albinism type 3
Orphanet:352728	Orphanet:55	\N	"" []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	578703	\N	\N	EFO	2	EFO	Disorder of melanin metabolism	Oculocutaneous albinism type 3
Orphanet:98706	Orphanet:55	\N	"" []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	578704	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Oculocutaneous albinism type 3
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	1162259	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Oculocutaneous albinism type 3
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	1162260	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Oculocutaneous albinism type 3
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	1162261	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Oculocutaneous albinism type 3
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	2045857	\N	\N	EFO	4	EFO	Rare genetic skin disease	Oculocutaneous albinism type 3
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	2045858	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Oculocutaneous albinism type 3
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	2045859	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Oculocutaneous albinism type 3
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	3195939	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 3
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	3195940	\N	\N	EFO	5	EFO	skin disease	Oculocutaneous albinism type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	3195941	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	3195942	\N	\N	EFO	5	EFO	metabolic disease	Oculocutaneous albinism type 3
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	3195943	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oculocutaneous albinism type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	5417950	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 3
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	4401699	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	4401700	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	4401701	\N	\N	EFO	6	EFO	genetic disorder	Oculocutaneous albinism type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	4401702	\N	\N	EFO	6	EFO	eye disease	Oculocutaneous albinism type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	5998681	\N	\N	EFO	8	EFO	disposition	Oculocutaneous albinism type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	5417951	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	6551737	\N	\N	EFO	9	EFO	material property	Oculocutaneous albinism type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79433	"Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." []	6889531	\N	\N	EFO	10	EFO	experimental factor	Oculocutaneous albinism type 3
Orphanet:79434	\N	\N	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	78049	\N	\N	EFO	0	EFO	Oculocutaneous albinism type 1B	Oculocutaneous albinism type 1B
Orphanet:352731	Orphanet:79434	\N	"Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	222482	\N	\N	EFO	1	EFO	Oculocutaneous albinism type 1	Oculocutaneous albinism type 1B
Orphanet:55	Orphanet:352731	\N	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	578705	\N	\N	EFO	2	EFO	Oculocutaneous albinism	Oculocutaneous albinism type 1B
Orphanet:183469	Orphanet:55	\N	"" []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	1162262	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Oculocutaneous albinism type 1B
Orphanet:352728	Orphanet:55	\N	"" []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	1162263	\N	\N	EFO	3	EFO	Disorder of melanin metabolism	Oculocutaneous albinism type 1B
Orphanet:98706	Orphanet:55	\N	"" []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	1162264	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Oculocutaneous albinism type 1B
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	2045860	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Oculocutaneous albinism type 1B
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	2045861	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Oculocutaneous albinism type 1B
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	2045862	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Oculocutaneous albinism type 1B
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	3195944	\N	\N	EFO	5	EFO	Rare genetic skin disease	Oculocutaneous albinism type 1B
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	3195945	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Oculocutaneous albinism type 1B
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	3195946	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Oculocutaneous albinism type 1B
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	4401703	\N	\N	EFO	6	EFO	genetic disorder	Oculocutaneous albinism type 1B
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	4401704	\N	\N	EFO	6	EFO	skin disease	Oculocutaneous albinism type 1B
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	4401705	\N	\N	EFO	6	EFO	genetic disorder	Oculocutaneous albinism type 1B
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	4401706	\N	\N	EFO	6	EFO	metabolic disease	Oculocutaneous albinism type 1B
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	4401707	\N	\N	EFO	6	EFO	Rare genetic eye disease	Oculocutaneous albinism type 1B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	6152719	\N	\N	EFO	8	EFO	disease	Oculocutaneous albinism type 1B
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	5417953	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 1B
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	5417954	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 1B
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	5417955	\N	\N	EFO	7	EFO	genetic disorder	Oculocutaneous albinism type 1B
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	5417956	\N	\N	EFO	7	EFO	eye disease	Oculocutaneous albinism type 1B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	6551738	\N	\N	EFO	9	EFO	disposition	Oculocutaneous albinism type 1B
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	6152720	\N	\N	EFO	8	EFO	disease	Oculocutaneous albinism type 1B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	6889532	\N	\N	EFO	10	EFO	material property	Oculocutaneous albinism type 1B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79434	"Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." []	7086058	\N	\N	EFO	11	EFO	experimental factor	Oculocutaneous albinism type 1B
Orphanet:79435	\N	\N	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	78050	\N	\N	EFO	0	EFO	Oculocutaneous albinism type 4	Oculocutaneous albinism type 4
Orphanet:55	Orphanet:79435	\N	"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	222483	\N	\N	EFO	1	EFO	Oculocutaneous albinism	Oculocutaneous albinism type 4
Orphanet:183469	Orphanet:55	\N	"" []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	578706	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Oculocutaneous albinism type 4
Orphanet:352728	Orphanet:55	\N	"" []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	578707	\N	\N	EFO	2	EFO	Disorder of melanin metabolism	Oculocutaneous albinism type 4
Orphanet:98706	Orphanet:55	\N	"" []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	578708	\N	\N	EFO	2	EFO	Oculocutaneous or ocular albinism	Oculocutaneous albinism type 4
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	1162265	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Oculocutaneous albinism type 4
Orphanet:79062	Orphanet:352728	\N	"" []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	1162266	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Oculocutaneous albinism type 4
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	1162267	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Oculocutaneous albinism type 4
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	2045863	\N	\N	EFO	4	EFO	Rare genetic skin disease	Oculocutaneous albinism type 4
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	2045864	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Oculocutaneous albinism type 4
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	2045865	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Oculocutaneous albinism type 4
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	3195947	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 4
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	3195948	\N	\N	EFO	5	EFO	skin disease	Oculocutaneous albinism type 4
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	3195949	\N	\N	EFO	5	EFO	genetic disorder	Oculocutaneous albinism type 4
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	3195950	\N	\N	EFO	5	EFO	metabolic disease	Oculocutaneous albinism type 4
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	3195951	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oculocutaneous albinism type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	5417958	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 4
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	4401709	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 4
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	4401710	\N	\N	EFO	6	EFO	disease	Oculocutaneous albinism type 4
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	4401711	\N	\N	EFO	6	EFO	genetic disorder	Oculocutaneous albinism type 4
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	4401712	\N	\N	EFO	6	EFO	eye disease	Oculocutaneous albinism type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	5998682	\N	\N	EFO	8	EFO	disposition	Oculocutaneous albinism type 4
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	5417959	\N	\N	EFO	7	EFO	disease	Oculocutaneous albinism type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	6551739	\N	\N	EFO	9	EFO	material property	Oculocutaneous albinism type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79435	"Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." []	6889533	\N	\N	EFO	10	EFO	experimental factor	Oculocutaneous albinism type 4
Orphanet:79443	\N	\N	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	78051	\N	\N	EFO	0	EFO	Pseudohypoparathyroidism type 1A	Pseudohypoparathyroidism type 1A
Orphanet:665	Orphanet:79443	\N	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	222484	\N	\N	EFO	1	EFO	Albright hereditary osteodystrophy	Pseudohypoparathyroidism type 1A
Orphanet:183472	Orphanet:665	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	578709	\N	\N	EFO	2	EFO	Genetic dermis disorder	Pseudohypoparathyroidism type 1A
Orphanet:240371	Orphanet:665	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	578710	\N	\N	EFO	2	EFO	Syndromic obesity	Pseudohypoparathyroidism type 1A
Orphanet:69028	Orphanet:665	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	578711	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Pseudohypoparathyroidism type 1A
Orphanet:97593	Orphanet:665	\N	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	578712	\N	\N	EFO	2	EFO	Pseudohypoparathyroidism	Pseudohypoparathyroidism type 1A
Orphanet:98648	Orphanet:665	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	578713	\N	\N	EFO	2	EFO	Musculoskeletal disease with cataract	Pseudohypoparathyroidism type 1A
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	1162268	\N	\N	EFO	3	EFO	Rare genetic skin disease	Pseudohypoparathyroidism type 1A
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	1162269	\N	\N	EFO	3	EFO	Genetic obesity	Pseudohypoparathyroidism type 1A
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	1162270	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Pseudohypoparathyroidism type 1A
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	1162271	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Pseudohypoparathyroidism type 1A
Orphanet:139009	Orphanet:97593	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	1162272	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Pseudohypoparathyroidism type 1A
Orphanet:183592	Orphanet:97593	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	1162273	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Pseudohypoparathyroidism type 1A
Orphanet:208593	Orphanet:97593	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	1162274	\N	\N	EFO	3	EFO	Genetic hypoparathyroidism	Pseudohypoparathyroidism type 1A
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	1162275	\N	\N	EFO	3	EFO	Systemic disease with cataract	Pseudohypoparathyroidism type 1A
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	2045866	\N	\N	EFO	4	EFO	genetic disorder	Pseudohypoparathyroidism type 1A
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	2045867	\N	\N	EFO	4	EFO	skin disease	Pseudohypoparathyroidism type 1A
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	2045868	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Pseudohypoparathyroidism type 1A
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	2045869	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Pseudohypoparathyroidism type 1A
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	2045870	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Pseudohypoparathyroidism type 1A
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	2045871	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Pseudohypoparathyroidism type 1A
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	2045872	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pseudohypoparathyroidism type 1A
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	2045873	\N	\N	EFO	4	EFO	Rare genetic renal disease	Pseudohypoparathyroidism type 1A
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	2045874	\N	\N	EFO	4	EFO	parathyroid disease	Pseudohypoparathyroidism type 1A
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	2045875	\N	\N	EFO	4	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Pseudohypoparathyroidism type 1A
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	2045876	\N	\N	EFO	4	EFO	Syndromic cataract	Pseudohypoparathyroidism type 1A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	6634149	\N	\N	EFO	9	EFO	disease	Pseudohypoparathyroidism type 1A
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	3195953	\N	\N	EFO	5	EFO	disease	Pseudohypoparathyroidism type 1A
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	4401721	\N	\N	EFO	6	EFO	genetic disorder	Pseudohypoparathyroidism type 1A
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	4401722	\N	\N	EFO	6	EFO	endocrine system disease	Pseudohypoparathyroidism type 1A
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	3195956	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pseudohypoparathyroidism type 1A
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	3195957	\N	\N	EFO	5	EFO	Rare genetic bone disease	Pseudohypoparathyroidism type 1A
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	3195958	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Pseudohypoparathyroidism type 1A
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	3195959	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pseudohypoparathyroidism type 1A
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	5417962	\N	\N	EFO	7	EFO	genetic disorder	Pseudohypoparathyroidism type 1A
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	3195961	\N	\N	EFO	5	EFO	genetic disorder	Pseudohypoparathyroidism type 1A
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	3195962	\N	\N	EFO	5	EFO	calcium metabolic disease	Pseudohypoparathyroidism type 1A
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	3195963	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Pseudohypoparathyroidism type 1A
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	3195964	\N	\N	EFO	5	EFO	Rare cataract	Pseudohypoparathyroidism type 1A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	6778824	\N	\N	EFO	10	EFO	disposition	Pseudohypoparathyroidism type 1A
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	5183337	\N	\N	EFO	7	EFO	disease	Pseudohypoparathyroidism type 1A
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	4401717	\N	\N	EFO	6	EFO	genetic disorder	Pseudohypoparathyroidism type 1A
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	4401718	\N	\N	EFO	6	EFO	bone disease	Pseudohypoparathyroidism type 1A
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	4401719	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Pseudohypoparathyroidism type 1A
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	4401720	\N	\N	EFO	6	EFO	metabolic disease	Pseudohypoparathyroidism type 1A
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	4401723	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Pseudohypoparathyroidism type 1A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	7030015	\N	\N	EFO	11	EFO	material property	Pseudohypoparathyroidism type 1A
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	5417961	\N	\N	EFO	7	EFO	skeletal system disease	Pseudohypoparathyroidism type 1A
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	5417963	\N	\N	EFO	7	EFO	disease	Pseudohypoparathyroidism type 1A
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	5417964	\N	\N	EFO	7	EFO	Rare genetic eye disease	Pseudohypoparathyroidism type 1A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	7181823	\N	\N	EFO	12	EFO	experimental factor	Pseudohypoparathyroidism type 1A
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	6152723	\N	\N	EFO	8	EFO	disease	Pseudohypoparathyroidism type 1A
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	6152724	\N	\N	EFO	8	EFO	genetic disorder	Pseudohypoparathyroidism type 1A
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	6152725	\N	\N	EFO	8	EFO	eye disease	Pseudohypoparathyroidism type 1A
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79443	"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." []	6634150	\N	\N	EFO	9	EFO	disease	Pseudohypoparathyroidism type 1A
Orphanet:79444	\N	\N	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	78052	\N	\N	EFO	0	EFO	Pseudohypoparathyroidism type 1C	Pseudohypoparathyroidism type 1C
Orphanet:665	Orphanet:79444	\N	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	222485	\N	\N	EFO	1	EFO	Albright hereditary osteodystrophy	Pseudohypoparathyroidism type 1C
Orphanet:183472	Orphanet:665	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	578714	\N	\N	EFO	2	EFO	Genetic dermis disorder	Pseudohypoparathyroidism type 1C
Orphanet:240371	Orphanet:665	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	578715	\N	\N	EFO	2	EFO	Syndromic obesity	Pseudohypoparathyroidism type 1C
Orphanet:69028	Orphanet:665	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	578716	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Pseudohypoparathyroidism type 1C
Orphanet:97593	Orphanet:665	\N	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	578717	\N	\N	EFO	2	EFO	Pseudohypoparathyroidism	Pseudohypoparathyroidism type 1C
Orphanet:98648	Orphanet:665	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	578718	\N	\N	EFO	2	EFO	Musculoskeletal disease with cataract	Pseudohypoparathyroidism type 1C
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	1162276	\N	\N	EFO	3	EFO	Rare genetic skin disease	Pseudohypoparathyroidism type 1C
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	1162277	\N	\N	EFO	3	EFO	Genetic obesity	Pseudohypoparathyroidism type 1C
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	1162278	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Pseudohypoparathyroidism type 1C
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	1162279	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Pseudohypoparathyroidism type 1C
Orphanet:139009	Orphanet:97593	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	1162280	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Pseudohypoparathyroidism type 1C
Orphanet:183592	Orphanet:97593	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	1162281	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Pseudohypoparathyroidism type 1C
Orphanet:208593	Orphanet:97593	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	1162282	\N	\N	EFO	3	EFO	Genetic hypoparathyroidism	Pseudohypoparathyroidism type 1C
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	1162283	\N	\N	EFO	3	EFO	Systemic disease with cataract	Pseudohypoparathyroidism type 1C
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	2045877	\N	\N	EFO	4	EFO	genetic disorder	Pseudohypoparathyroidism type 1C
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	2045878	\N	\N	EFO	4	EFO	skin disease	Pseudohypoparathyroidism type 1C
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	2045879	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Pseudohypoparathyroidism type 1C
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	2045880	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Pseudohypoparathyroidism type 1C
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	2045881	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Pseudohypoparathyroidism type 1C
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	2045882	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Pseudohypoparathyroidism type 1C
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	2045883	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pseudohypoparathyroidism type 1C
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	2045884	\N	\N	EFO	4	EFO	Rare genetic renal disease	Pseudohypoparathyroidism type 1C
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	2045885	\N	\N	EFO	4	EFO	parathyroid disease	Pseudohypoparathyroidism type 1C
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	2045886	\N	\N	EFO	4	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Pseudohypoparathyroidism type 1C
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	2045887	\N	\N	EFO	4	EFO	Syndromic cataract	Pseudohypoparathyroidism type 1C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	6634151	\N	\N	EFO	9	EFO	disease	Pseudohypoparathyroidism type 1C
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	3195966	\N	\N	EFO	5	EFO	disease	Pseudohypoparathyroidism type 1C
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	4401732	\N	\N	EFO	6	EFO	genetic disorder	Pseudohypoparathyroidism type 1C
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	4401733	\N	\N	EFO	6	EFO	endocrine system disease	Pseudohypoparathyroidism type 1C
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	3195969	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pseudohypoparathyroidism type 1C
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	3195970	\N	\N	EFO	5	EFO	Rare genetic bone disease	Pseudohypoparathyroidism type 1C
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	3195971	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Pseudohypoparathyroidism type 1C
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	3195972	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pseudohypoparathyroidism type 1C
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	5417967	\N	\N	EFO	7	EFO	genetic disorder	Pseudohypoparathyroidism type 1C
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	3195974	\N	\N	EFO	5	EFO	genetic disorder	Pseudohypoparathyroidism type 1C
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	3195975	\N	\N	EFO	5	EFO	calcium metabolic disease	Pseudohypoparathyroidism type 1C
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	3195976	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Pseudohypoparathyroidism type 1C
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	3195977	\N	\N	EFO	5	EFO	Rare cataract	Pseudohypoparathyroidism type 1C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	6778825	\N	\N	EFO	10	EFO	disposition	Pseudohypoparathyroidism type 1C
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	5183340	\N	\N	EFO	7	EFO	disease	Pseudohypoparathyroidism type 1C
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	4401728	\N	\N	EFO	6	EFO	genetic disorder	Pseudohypoparathyroidism type 1C
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	4401729	\N	\N	EFO	6	EFO	bone disease	Pseudohypoparathyroidism type 1C
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	4401730	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Pseudohypoparathyroidism type 1C
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	4401731	\N	\N	EFO	6	EFO	metabolic disease	Pseudohypoparathyroidism type 1C
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	4401734	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Pseudohypoparathyroidism type 1C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	7030016	\N	\N	EFO	11	EFO	material property	Pseudohypoparathyroidism type 1C
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	5417966	\N	\N	EFO	7	EFO	skeletal system disease	Pseudohypoparathyroidism type 1C
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	5417968	\N	\N	EFO	7	EFO	disease	Pseudohypoparathyroidism type 1C
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	5417969	\N	\N	EFO	7	EFO	Rare genetic eye disease	Pseudohypoparathyroidism type 1C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	7181824	\N	\N	EFO	12	EFO	experimental factor	Pseudohypoparathyroidism type 1C
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	6152727	\N	\N	EFO	8	EFO	disease	Pseudohypoparathyroidism type 1C
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	6152728	\N	\N	EFO	8	EFO	genetic disorder	Pseudohypoparathyroidism type 1C
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	6152729	\N	\N	EFO	8	EFO	eye disease	Pseudohypoparathyroidism type 1C
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79444	"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." []	6634152	\N	\N	EFO	9	EFO	disease	Pseudohypoparathyroidism type 1C
Orphanet:79445	\N	\N	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	78053	\N	\N	EFO	0	EFO	Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism
Orphanet:665	Orphanet:79445	\N	"Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	222486	\N	\N	EFO	1	EFO	Albright hereditary osteodystrophy	Pseudopseudohypoparathyroidism
Orphanet:183472	Orphanet:665	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	578719	\N	\N	EFO	2	EFO	Genetic dermis disorder	Pseudopseudohypoparathyroidism
Orphanet:240371	Orphanet:665	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	578720	\N	\N	EFO	2	EFO	Syndromic obesity	Pseudopseudohypoparathyroidism
Orphanet:69028	Orphanet:665	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	578721	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Pseudopseudohypoparathyroidism
Orphanet:97593	Orphanet:665	\N	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	578722	\N	\N	EFO	2	EFO	Pseudohypoparathyroidism	Pseudopseudohypoparathyroidism
Orphanet:98648	Orphanet:665	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	578723	\N	\N	EFO	2	EFO	Musculoskeletal disease with cataract	Pseudopseudohypoparathyroidism
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	1162284	\N	\N	EFO	3	EFO	Rare genetic skin disease	Pseudopseudohypoparathyroidism
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	1162285	\N	\N	EFO	3	EFO	Genetic obesity	Pseudopseudohypoparathyroidism
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	1162286	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Pseudopseudohypoparathyroidism
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	1162287	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Pseudopseudohypoparathyroidism
Orphanet:139009	Orphanet:97593	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	1162288	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Pseudopseudohypoparathyroidism
Orphanet:183592	Orphanet:97593	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	1162289	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Pseudopseudohypoparathyroidism
Orphanet:208593	Orphanet:97593	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	1162290	\N	\N	EFO	3	EFO	Genetic hypoparathyroidism	Pseudopseudohypoparathyroidism
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	1162291	\N	\N	EFO	3	EFO	Systemic disease with cataract	Pseudopseudohypoparathyroidism
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	2045888	\N	\N	EFO	4	EFO	genetic disorder	Pseudopseudohypoparathyroidism
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	2045889	\N	\N	EFO	4	EFO	skin disease	Pseudopseudohypoparathyroidism
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	2045890	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Pseudopseudohypoparathyroidism
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	2045891	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Pseudopseudohypoparathyroidism
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	2045892	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Pseudopseudohypoparathyroidism
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	2045893	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Pseudopseudohypoparathyroidism
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	2045894	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pseudopseudohypoparathyroidism
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	2045895	\N	\N	EFO	4	EFO	Rare genetic renal disease	Pseudopseudohypoparathyroidism
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	2045896	\N	\N	EFO	4	EFO	parathyroid disease	Pseudopseudohypoparathyroidism
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	2045897	\N	\N	EFO	4	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Pseudopseudohypoparathyroidism
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	2045898	\N	\N	EFO	4	EFO	Syndromic cataract	Pseudopseudohypoparathyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	6634153	\N	\N	EFO	9	EFO	disease	Pseudopseudohypoparathyroidism
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	3195979	\N	\N	EFO	5	EFO	disease	Pseudopseudohypoparathyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	4401743	\N	\N	EFO	6	EFO	genetic disorder	Pseudopseudohypoparathyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	4401744	\N	\N	EFO	6	EFO	endocrine system disease	Pseudopseudohypoparathyroidism
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	3195982	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pseudopseudohypoparathyroidism
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	3195983	\N	\N	EFO	5	EFO	Rare genetic bone disease	Pseudopseudohypoparathyroidism
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	3195984	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Pseudopseudohypoparathyroidism
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	3195985	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pseudopseudohypoparathyroidism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	5417972	\N	\N	EFO	7	EFO	genetic disorder	Pseudopseudohypoparathyroidism
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	3195987	\N	\N	EFO	5	EFO	genetic disorder	Pseudopseudohypoparathyroidism
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	3195988	\N	\N	EFO	5	EFO	calcium metabolic disease	Pseudopseudohypoparathyroidism
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	3195989	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Pseudopseudohypoparathyroidism
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	3195990	\N	\N	EFO	5	EFO	Rare cataract	Pseudopseudohypoparathyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	6778826	\N	\N	EFO	10	EFO	disposition	Pseudopseudohypoparathyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	5183343	\N	\N	EFO	7	EFO	disease	Pseudopseudohypoparathyroidism
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	4401739	\N	\N	EFO	6	EFO	genetic disorder	Pseudopseudohypoparathyroidism
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	4401740	\N	\N	EFO	6	EFO	bone disease	Pseudopseudohypoparathyroidism
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	4401741	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Pseudopseudohypoparathyroidism
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	4401742	\N	\N	EFO	6	EFO	metabolic disease	Pseudopseudohypoparathyroidism
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	4401745	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Pseudopseudohypoparathyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	7030017	\N	\N	EFO	11	EFO	material property	Pseudopseudohypoparathyroidism
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	5417971	\N	\N	EFO	7	EFO	skeletal system disease	Pseudopseudohypoparathyroidism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	5417973	\N	\N	EFO	7	EFO	disease	Pseudopseudohypoparathyroidism
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	5417974	\N	\N	EFO	7	EFO	Rare genetic eye disease	Pseudopseudohypoparathyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	7181825	\N	\N	EFO	12	EFO	experimental factor	Pseudopseudohypoparathyroidism
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	6152731	\N	\N	EFO	8	EFO	disease	Pseudopseudohypoparathyroidism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	6152732	\N	\N	EFO	8	EFO	genetic disorder	Pseudopseudohypoparathyroidism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	6152733	\N	\N	EFO	8	EFO	eye disease	Pseudopseudohypoparathyroidism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79445	"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." []	6634154	\N	\N	EFO	9	EFO	disease	Pseudopseudohypoparathyroidism
Orphanet:79447	\N	\N	"" []	Orphanet:79447	"" []	78054	\N	\N	EFO	0	EFO	X-linked lethal multiple pterygium syndrome	X-linked lethal multiple pterygium syndrome
Orphanet:294060	Orphanet:79447	\N	"" []	Orphanet:79447	"" []	222487	\N	\N	EFO	1	EFO	Multiple pterygium syndrome	X-linked lethal multiple pterygium syndrome
Orphanet:109007	Orphanet:294060	\N	"" []	Orphanet:79447	"" []	578724	\N	\N	EFO	2	EFO	Arthrogryposis syndrome	X-linked lethal multiple pterygium syndrome
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:79447	"" []	1162292	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	X-linked lethal multiple pterygium syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:79447	"" []	2045899	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	X-linked lethal multiple pterygium syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:79447	"" []	3195991	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked lethal multiple pterygium syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79447	"" []	4401746	\N	\N	EFO	6	EFO	genetic disorder	X-linked lethal multiple pterygium syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79447	"" []	5417975	\N	\N	EFO	7	EFO	disease	X-linked lethal multiple pterygium syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79447	"" []	6152734	\N	\N	EFO	8	EFO	disposition	X-linked lethal multiple pterygium syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79447	"" []	6634155	\N	\N	EFO	9	EFO	material property	X-linked lethal multiple pterygium syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79447	"" []	6926254	\N	\N	EFO	10	EFO	experimental factor	X-linked lethal multiple pterygium syndrome
Orphanet:79450	\N	\N	")." []	Orphanet:79450	")." []	78055	\N	\N	EFO	0	EFO	Non hereditary congenital primary lymphedema	Non hereditary congenital primary lymphedema
Orphanet:2416	Orphanet:79450	\N	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	Orphanet:79450	")." []	222488	\N	\N	EFO	1	EFO	Congenital primary lymphedema	Non hereditary congenital primary lymphedema
Orphanet:77240	Orphanet:2416	\N	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	Orphanet:79450	")." []	578725	\N	\N	EFO	2	EFO	Primary lymphedema	Non hereditary congenital primary lymphedema
Orphanet:98614	Orphanet:2416	\N	"" []	Orphanet:79450	")." []	578726	\N	\N	EFO	2	EFO	Conjunctival lymphangiectasia	Non hereditary congenital primary lymphedema
Orphanet:79383	Orphanet:77240	\N	"" []	Orphanet:79450	")." []	1162293	\N	\N	EFO	3	EFO	Lymphedema	Non hereditary congenital primary lymphedema
Orphanet:98611	Orphanet:98614	\N	"" []	Orphanet:79450	")." []	1162294	\N	\N	EFO	3	EFO	Conjunctival vascular anomaly	Non hereditary congenital primary lymphedema
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:79450	")." []	2045900	\N	\N	EFO	4	EFO	Rare genetic skin disease	Non hereditary congenital primary lymphedema
Orphanet:98610	Orphanet:98611	\N	"" []	Orphanet:79450	")." []	2045901	\N	\N	EFO	4	EFO	Rare conjunctival disease	Non hereditary congenital primary lymphedema
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79450	")." []	3195992	\N	\N	EFO	5	EFO	genetic disorder	Non hereditary congenital primary lymphedema
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79450	")." []	3195993	\N	\N	EFO	5	EFO	skin disease	Non hereditary congenital primary lymphedema
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:79450	")." []	3195994	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Non hereditary congenital primary lymphedema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79450	")." []	6152736	\N	\N	EFO	8	EFO	disease	Non hereditary congenital primary lymphedema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79450	")." []	4401748	\N	\N	EFO	6	EFO	disease	Non hereditary congenital primary lymphedema
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:79450	")." []	4401749	\N	\N	EFO	6	EFO	Rare genetic eye disease	Non hereditary congenital primary lymphedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79450	")." []	6470964	\N	\N	EFO	9	EFO	disposition	Non hereditary congenital primary lymphedema
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79450	")." []	5417977	\N	\N	EFO	7	EFO	genetic disorder	Non hereditary congenital primary lymphedema
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79450	")." []	5417978	\N	\N	EFO	7	EFO	eye disease	Non hereditary congenital primary lymphedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79450	")." []	6848811	\N	\N	EFO	10	EFO	material property	Non hereditary congenital primary lymphedema
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79450	")." []	6152737	\N	\N	EFO	8	EFO	disease	Non hereditary congenital primary lymphedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79450	")." []	7068532	\N	\N	EFO	11	EFO	experimental factor	Non hereditary congenital primary lymphedema
Orphanet:79452	\N	\N	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	78056	\N	\N	EFO	0	EFO	Milroy disease	Milroy disease
Orphanet:2416	Orphanet:79452	\N	"Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	222489	\N	\N	EFO	1	EFO	Congenital primary lymphedema	Milroy disease
Orphanet:77240	Orphanet:2416	\N	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	578727	\N	\N	EFO	2	EFO	Primary lymphedema	Milroy disease
Orphanet:98614	Orphanet:2416	\N	"" []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	578728	\N	\N	EFO	2	EFO	Conjunctival lymphangiectasia	Milroy disease
Orphanet:79383	Orphanet:77240	\N	"" []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	1162295	\N	\N	EFO	3	EFO	Lymphedema	Milroy disease
Orphanet:98611	Orphanet:98614	\N	"" []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	1162296	\N	\N	EFO	3	EFO	Conjunctival vascular anomaly	Milroy disease
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	2045902	\N	\N	EFO	4	EFO	Rare genetic skin disease	Milroy disease
Orphanet:98610	Orphanet:98611	\N	"" []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	2045903	\N	\N	EFO	4	EFO	Rare conjunctival disease	Milroy disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	3195995	\N	\N	EFO	5	EFO	genetic disorder	Milroy disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	3195996	\N	\N	EFO	5	EFO	skin disease	Milroy disease
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	3195997	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Milroy disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	6152739	\N	\N	EFO	8	EFO	disease	Milroy disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	4401751	\N	\N	EFO	6	EFO	disease	Milroy disease
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	4401752	\N	\N	EFO	6	EFO	Rare genetic eye disease	Milroy disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	6470965	\N	\N	EFO	9	EFO	disposition	Milroy disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	5417980	\N	\N	EFO	7	EFO	genetic disorder	Milroy disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	5417981	\N	\N	EFO	7	EFO	eye disease	Milroy disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	6848812	\N	\N	EFO	10	EFO	material property	Milroy disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	6152740	\N	\N	EFO	8	EFO	disease	Milroy disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79452	"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []	7068533	\N	\N	EFO	11	EFO	experimental factor	Milroy disease
Orphanet:79458	\N	\N	"" []	Orphanet:79458	"" []	78057	\N	\N	EFO	0	EFO	Oley syndrome	Oley syndrome
Orphanet:139027	Orphanet:79458	\N	"" []	Orphanet:79458	"" []	222490	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Oley syndrome
Orphanet:183487	Orphanet:79458	\N	"" []	Orphanet:79458	"" []	222491	\N	\N	EFO	1	EFO	Genetic skin tumor	Oley syndrome
Orphanet:98584	Orphanet:79458	\N	"" []	Orphanet:79458	"" []	222492	\N	\N	EFO	1	EFO	Malignant tumor of palpebral epidermis	Oley syndrome
Orphanet:98598	Orphanet:79458	\N	"" []	Orphanet:79458	"" []	222493	\N	\N	EFO	1	EFO	Congenital absence of the eyebrow/eyelashes	Oley syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79458	"" []	578729	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Oley syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:79458	"" []	578730	\N	\N	EFO	2	EFO	skin neoplasm	Oley syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:79458	"" []	578731	\N	\N	EFO	2	EFO	Rare genetic tumor	Oley syndrome
Orphanet:98580	Orphanet:98584	\N	"" []	Orphanet:79458	"" []	578732	\N	\N	EFO	2	EFO	Palpebral tumor	Oley syndrome
Orphanet:98594	Orphanet:98598	\N	"" []	Orphanet:79458	"" []	578733	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Oley syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79458	"" []	1162297	\N	\N	EFO	3	EFO	genetic disorder	Oley syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:79458	"" []	1162298	\N	\N	EFO	3	EFO	neoplasm	Oley syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79458	"" []	1162299	\N	\N	EFO	3	EFO	skin disease	Oley syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79458	"" []	1162300	\N	\N	EFO	3	EFO	genetic disorder	Oley syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:79458	"" []	1162301	\N	\N	EFO	3	EFO	neoplasm	Oley syndrome
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:79458	"" []	1162302	\N	\N	EFO	3	EFO	Rare palpebral disease	Oley syndrome
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:79458	"" []	1162303	\N	\N	EFO	3	EFO	Rare palpebral disease	Oley syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79458	"" []	5417983	\N	\N	EFO	7	EFO	disease	Oley syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79458	"" []	2045905	\N	\N	EFO	4	EFO	disease	Oley syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79458	"" []	2045906	\N	\N	EFO	4	EFO	disease	Oley syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:79458	"" []	2045907	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Oley syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79458	"" []	5817860	\N	\N	EFO	8	EFO	disposition	Oley syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:79458	"" []	3195999	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oley syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79458	"" []	6410360	\N	\N	EFO	9	EFO	material property	Oley syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79458	"" []	4401754	\N	\N	EFO	6	EFO	genetic disorder	Oley syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79458	"" []	4401755	\N	\N	EFO	6	EFO	eye disease	Oley syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79458	"" []	6808171	\N	\N	EFO	10	EFO	experimental factor	Oley syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79458	"" []	5417984	\N	\N	EFO	7	EFO	disease	Oley syndrome
Orphanet:79459	\N	\N	"" []	Orphanet:79459	"" []	78058	\N	\N	EFO	0	EFO	Follicular atrophoderma-basal cell carcinoma	Follicular atrophoderma-basal cell carcinoma
Orphanet:113	Orphanet:79459	\N	"" []	Orphanet:79459	"" []	222494	\N	\N	EFO	1	EFO	Bazex-Dupr-Christol syndrome	Follicular atrophoderma-basal cell carcinoma
Orphanet:139027	Orphanet:113	\N	"" []	Orphanet:79459	"" []	578734	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Follicular atrophoderma-basal cell carcinoma
Orphanet:183487	Orphanet:113	\N	"" []	Orphanet:79459	"" []	578735	\N	\N	EFO	2	EFO	Genetic skin tumor	Follicular atrophoderma-basal cell carcinoma
Orphanet:98584	Orphanet:113	\N	"" []	Orphanet:79459	"" []	578736	\N	\N	EFO	2	EFO	Malignant tumor of palpebral epidermis	Follicular atrophoderma-basal cell carcinoma
Orphanet:98598	Orphanet:113	\N	"" []	Orphanet:79459	"" []	578737	\N	\N	EFO	2	EFO	Congenital absence of the eyebrow/eyelashes	Follicular atrophoderma-basal cell carcinoma
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79459	"" []	1162304	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Follicular atrophoderma-basal cell carcinoma
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:79459	"" []	1162305	\N	\N	EFO	3	EFO	skin neoplasm	Follicular atrophoderma-basal cell carcinoma
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:79459	"" []	1162306	\N	\N	EFO	3	EFO	Rare genetic tumor	Follicular atrophoderma-basal cell carcinoma
Orphanet:98580	Orphanet:98584	\N	"" []	Orphanet:79459	"" []	1162307	\N	\N	EFO	3	EFO	Palpebral tumor	Follicular atrophoderma-basal cell carcinoma
Orphanet:98594	Orphanet:98598	\N	"" []	Orphanet:79459	"" []	1162308	\N	\N	EFO	3	EFO	Rare eyebrow/eyelashes anomaly	Follicular atrophoderma-basal cell carcinoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79459	"" []	2045908	\N	\N	EFO	4	EFO	genetic disorder	Follicular atrophoderma-basal cell carcinoma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:79459	"" []	2045909	\N	\N	EFO	4	EFO	neoplasm	Follicular atrophoderma-basal cell carcinoma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79459	"" []	2045910	\N	\N	EFO	4	EFO	skin disease	Follicular atrophoderma-basal cell carcinoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79459	"" []	2045911	\N	\N	EFO	4	EFO	genetic disorder	Follicular atrophoderma-basal cell carcinoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:79459	"" []	2045912	\N	\N	EFO	4	EFO	neoplasm	Follicular atrophoderma-basal cell carcinoma
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:79459	"" []	2045913	\N	\N	EFO	4	EFO	Rare palpebral disease	Follicular atrophoderma-basal cell carcinoma
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:79459	"" []	2045914	\N	\N	EFO	4	EFO	Rare palpebral disease	Follicular atrophoderma-basal cell carcinoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79459	"" []	6152742	\N	\N	EFO	8	EFO	disease	Follicular atrophoderma-basal cell carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79459	"" []	3196001	\N	\N	EFO	5	EFO	disease	Follicular atrophoderma-basal cell carcinoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79459	"" []	3196002	\N	\N	EFO	5	EFO	disease	Follicular atrophoderma-basal cell carcinoma
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:79459	"" []	3196003	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Follicular atrophoderma-basal cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79459	"" []	6410361	\N	\N	EFO	9	EFO	disposition	Follicular atrophoderma-basal cell carcinoma
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:79459	"" []	4401757	\N	\N	EFO	6	EFO	Rare genetic eye disease	Follicular atrophoderma-basal cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79459	"" []	6808172	\N	\N	EFO	10	EFO	material property	Follicular atrophoderma-basal cell carcinoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79459	"" []	5417986	\N	\N	EFO	7	EFO	genetic disorder	Follicular atrophoderma-basal cell carcinoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79459	"" []	5417987	\N	\N	EFO	7	EFO	eye disease	Follicular atrophoderma-basal cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79459	"" []	7048807	\N	\N	EFO	11	EFO	experimental factor	Follicular atrophoderma-basal cell carcinoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79459	"" []	6152743	\N	\N	EFO	8	EFO	disease	Follicular atrophoderma-basal cell carcinoma
Orphanet:79473	\N	\N	"" []	Orphanet:79473	"" []	78059	\N	\N	EFO	0	EFO	Porphyria variegata	Porphyria variegata
Orphanet:95157	Orphanet:79473	\N	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	Orphanet:79473	"" []	222495	\N	\N	EFO	1	EFO	Acute hepatic porphyria	Porphyria variegata
Orphanet:207018	Orphanet:95157	\N	"" []	Orphanet:79473	"" []	578738	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Porphyria variegata
Orphanet:738	Orphanet:95157	\N	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	Orphanet:79473	"" []	578739	\N	\N	EFO	2	EFO	Porphyria	Porphyria variegata
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:79473	"" []	1162309	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Porphyria variegata
Orphanet:183490	Orphanet:738	\N	"" []	Orphanet:79473	"" []	1162310	\N	\N	EFO	3	EFO	Genetic photodermatosis	Porphyria variegata
Orphanet:309813	Orphanet:738	\N	"" []	Orphanet:79473	"" []	1162311	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Porphyria variegata
Orphanet:79387	Orphanet:738	\N	"" []	Orphanet:79473	"" []	1162312	\N	\N	EFO	3	EFO	Metabolic disease with skin involvement	Porphyria variegata
Orphanet:93593	Orphanet:738	\N	"" []	Orphanet:79473	"" []	1162313	\N	\N	EFO	3	EFO	Nephropathy secondary to a storage or other metabolic disease	Porphyria variegata
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:79473	"" []	2045915	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Porphyria variegata
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:79473	"" []	2045916	\N	\N	EFO	4	EFO	Rare genetic skin disease	Porphyria variegata
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:79473	"" []	2045917	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Porphyria variegata
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:79473	"" []	2045918	\N	\N	EFO	4	EFO	Rare genetic skin disease	Porphyria variegata
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:79473	"" []	2045919	\N	\N	EFO	4	EFO	Rare genetic renal disease	Porphyria variegata
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:79473	"" []	3196004	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Porphyria variegata
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79473	"" []	3196005	\N	\N	EFO	5	EFO	genetic disorder	Porphyria variegata
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79473	"" []	3196006	\N	\N	EFO	5	EFO	skin disease	Porphyria variegata
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79473	"" []	3196007	\N	\N	EFO	5	EFO	genetic disorder	Porphyria variegata
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79473	"" []	3196008	\N	\N	EFO	5	EFO	metabolic disease	Porphyria variegata
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79473	"" []	3196009	\N	\N	EFO	5	EFO	genetic disorder	Porphyria variegata
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79473	"" []	4401758	\N	\N	EFO	6	EFO	genetic disorder	Porphyria variegata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79473	"" []	5417988	\N	\N	EFO	7	EFO	disease	Porphyria variegata
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79473	"" []	4401760	\N	\N	EFO	6	EFO	disease	Porphyria variegata
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79473	"" []	4401761	\N	\N	EFO	6	EFO	disease	Porphyria variegata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79473	"" []	5998686	\N	\N	EFO	8	EFO	disposition	Porphyria variegata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79473	"" []	6551743	\N	\N	EFO	9	EFO	material property	Porphyria variegata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79473	"" []	6889534	\N	\N	EFO	10	EFO	experimental factor	Porphyria variegata
Orphanet:79474	\N	\N	" mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." []	Orphanet:79474	" mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." []	78060	\N	\N	EFO	0	EFO	Atypical Werner syndrome	Atypical Werner syndrome
Orphanet:363245	Orphanet:79474	\N	"" []	Orphanet:79474	" mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." []	222496	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Atypical Werner syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:79474	" mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." []	578740	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Atypical Werner syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79474	" mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." []	1162314	\N	\N	EFO	3	EFO	genetic disorder	Atypical Werner syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79474	" mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." []	2045920	\N	\N	EFO	4	EFO	disease	Atypical Werner syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79474	" mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." []	3196010	\N	\N	EFO	5	EFO	disposition	Atypical Werner syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79474	" mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." []	4401762	\N	\N	EFO	6	EFO	material property	Atypical Werner syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79474	" mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." []	5417990	\N	\N	EFO	7	EFO	experimental factor	Atypical Werner syndrome
Orphanet:79476	\N	\N	"" []	Orphanet:79476	"" []	78061	\N	\N	EFO	0	EFO	Griscelli disease type 1	Griscelli disease type 1
Orphanet:381	Orphanet:79476	\N	"" []	Orphanet:79476	"" []	222497	\N	\N	EFO	1	EFO	Griscelli disease	Griscelli disease type 1
Orphanet:284811	Orphanet:381	\N	"" []	Orphanet:79476	"" []	578741	\N	\N	EFO	2	EFO	Syndromic oculocutaneous albinism	Griscelli disease type 1
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:79476	"" []	1162315	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Griscelli disease type 1
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:79476	"" []	1162316	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Griscelli disease type 1
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:79476	"" []	2045921	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Griscelli disease type 1
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:79476	"" []	2045922	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Griscelli disease type 1
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79476	"" []	3196011	\N	\N	EFO	5	EFO	Rare genetic skin disease	Griscelli disease type 1
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:79476	"" []	3196012	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Griscelli disease type 1
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79476	"" []	4401763	\N	\N	EFO	6	EFO	genetic disorder	Griscelli disease type 1
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79476	"" []	4401764	\N	\N	EFO	6	EFO	skin disease	Griscelli disease type 1
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:79476	"" []	4401765	\N	\N	EFO	6	EFO	Rare genetic eye disease	Griscelli disease type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79476	"" []	6152746	\N	\N	EFO	8	EFO	disease	Griscelli disease type 1
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79476	"" []	5417992	\N	\N	EFO	7	EFO	disease	Griscelli disease type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79476	"" []	5417993	\N	\N	EFO	7	EFO	genetic disorder	Griscelli disease type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79476	"" []	5417994	\N	\N	EFO	7	EFO	eye disease	Griscelli disease type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79476	"" []	6551744	\N	\N	EFO	9	EFO	disposition	Griscelli disease type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79476	"" []	6152747	\N	\N	EFO	8	EFO	disease	Griscelli disease type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79476	"" []	6889535	\N	\N	EFO	10	EFO	material property	Griscelli disease type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79476	"" []	7086059	\N	\N	EFO	11	EFO	experimental factor	Griscelli disease type 1
Orphanet:79477	\N	\N	"" []	Orphanet:79477	"" []	78062	\N	\N	EFO	0	EFO	Griscelli disease type 2	Griscelli disease type 2
Orphanet:183494	Orphanet:79477	\N	"" []	Orphanet:79477	"" []	222498	\N	\N	EFO	1	EFO	Genetic immune deficiency with skin involvement	Griscelli disease type 2
Orphanet:331184	Orphanet:79477	\N	"" []	Orphanet:79477	"" []	222499	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Griscelli disease type 2
Orphanet:331249	Orphanet:79477	\N	"" []	Orphanet:79477	"" []	222500	\N	\N	EFO	1	EFO	Immunodeficiency syndrome with hypopigmentation	Griscelli disease type 2
Orphanet:381	Orphanet:79477	\N	"" []	Orphanet:79477	"" []	222501	\N	\N	EFO	1	EFO	Griscelli disease	Griscelli disease type 2
Orphanet:68346	Orphanet:183494	\N	"" []	Orphanet:79477	"" []	578742	\N	\N	EFO	2	EFO	Rare genetic skin disease	Griscelli disease type 2
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:79477	"" []	578743	\N	\N	EFO	2	EFO	Constitutional neutropenia	Griscelli disease type 2
Orphanet:158038	Orphanet:331249	\N	"" []	Orphanet:79477	"" []	578744	\N	\N	EFO	2	EFO	Primary hemophagocytic lymphohistiocytosis	Griscelli disease type 2
Orphanet:284811	Orphanet:381	\N	"" []	Orphanet:79477	"" []	578745	\N	\N	EFO	2	EFO	Syndromic oculocutaneous albinism	Griscelli disease type 2
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79477	"" []	4401770	\N	\N	EFO	6	EFO	genetic disorder	Griscelli disease type 2
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79477	"" []	4401771	\N	\N	EFO	6	EFO	skin disease	Griscelli disease type 2
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:79477	"" []	1162319	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Griscelli disease type 2
Orphanet:169361	Orphanet:158038	\N	"" []	Orphanet:79477	"" []	1162320	\N	\N	EFO	3	EFO	Immune dysregulation disease with immunodeficiency	Griscelli disease type 2
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:79477	"" []	1162321	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Griscelli disease type 2
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:79477	"" []	1162322	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Griscelli disease type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79477	"" []	5998687	\N	\N	EFO	8	EFO	disease	Griscelli disease type 2
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79477	"" []	5028484	\N	\N	EFO	7	EFO	disease	Griscelli disease type 2
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:79477	"" []	2045925	\N	\N	EFO	4	EFO	Primary immunodeficiency	Griscelli disease type 2
Orphanet:179006	Orphanet:169361	\N	"" []	Orphanet:79477	"" []	2045926	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Griscelli disease type 2
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:79477	"" []	2045927	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Griscelli disease type 2
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:79477	"" []	2045928	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Griscelli disease type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79477	"" []	6378991	\N	\N	EFO	9	EFO	disposition	Griscelli disease type 2
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:79477	"" []	4401769	\N	\N	EFO	6	EFO	Rare genetic immune disease	Griscelli disease type 2
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:79477	"" []	3196015	\N	\N	EFO	5	EFO	Primary immunodeficiency	Griscelli disease type 2
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79477	"" []	3196016	\N	\N	EFO	5	EFO	Rare genetic skin disease	Griscelli disease type 2
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:79477	"" []	3196017	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Griscelli disease type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79477	"" []	6778827	\N	\N	EFO	10	EFO	material property	Griscelli disease type 2
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79477	"" []	5183344	\N	\N	EFO	7	EFO	genetic disorder	Griscelli disease type 2
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:79477	"" []	5183345	\N	\N	EFO	7	EFO	immune system disease	Griscelli disease type 2
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:79477	"" []	4401772	\N	\N	EFO	6	EFO	Rare genetic eye disease	Griscelli disease type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79477	"" []	7030018	\N	\N	EFO	11	EFO	experimental factor	Griscelli disease type 2
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79477	"" []	5998688	\N	\N	EFO	8	EFO	disease	Griscelli disease type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79477	"" []	5417997	\N	\N	EFO	7	EFO	genetic disorder	Griscelli disease type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79477	"" []	5417998	\N	\N	EFO	7	EFO	eye disease	Griscelli disease type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79477	"" []	6152748	\N	\N	EFO	8	EFO	disease	Griscelli disease type 2
Orphanet:79478	\N	\N	"" []	Orphanet:79478	"" []	78063	\N	\N	EFO	0	EFO	Griscelli disease type 3	Griscelli disease type 3
Orphanet:381	Orphanet:79478	\N	"" []	Orphanet:79478	"" []	222502	\N	\N	EFO	1	EFO	Griscelli disease	Griscelli disease type 3
Orphanet:284811	Orphanet:381	\N	"" []	Orphanet:79478	"" []	578746	\N	\N	EFO	2	EFO	Syndromic oculocutaneous albinism	Griscelli disease type 3
Orphanet:183469	Orphanet:284811	\N	"" []	Orphanet:79478	"" []	1162323	\N	\N	EFO	3	EFO	Genetic hypopigmentation of the skin	Griscelli disease type 3
Orphanet:98706	Orphanet:284811	\N	"" []	Orphanet:79478	"" []	1162324	\N	\N	EFO	3	EFO	Oculocutaneous or ocular albinism	Griscelli disease type 3
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:79478	"" []	2045929	\N	\N	EFO	4	EFO	Genetic pigmentation anomaly of the skin	Griscelli disease type 3
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:79478	"" []	2045930	\N	\N	EFO	4	EFO	Pigmentation disorder with eye involvement	Griscelli disease type 3
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79478	"" []	3196018	\N	\N	EFO	5	EFO	Rare genetic skin disease	Griscelli disease type 3
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:79478	"" []	3196019	\N	\N	EFO	5	EFO	Genodermatosis with ocular features	Griscelli disease type 3
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79478	"" []	4401773	\N	\N	EFO	6	EFO	genetic disorder	Griscelli disease type 3
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79478	"" []	4401774	\N	\N	EFO	6	EFO	skin disease	Griscelli disease type 3
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:79478	"" []	4401775	\N	\N	EFO	6	EFO	Rare genetic eye disease	Griscelli disease type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79478	"" []	6152750	\N	\N	EFO	8	EFO	disease	Griscelli disease type 3
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79478	"" []	5418000	\N	\N	EFO	7	EFO	disease	Griscelli disease type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79478	"" []	5418001	\N	\N	EFO	7	EFO	genetic disorder	Griscelli disease type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79478	"" []	5418002	\N	\N	EFO	7	EFO	eye disease	Griscelli disease type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79478	"" []	6551745	\N	\N	EFO	9	EFO	disposition	Griscelli disease type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79478	"" []	6152751	\N	\N	EFO	8	EFO	disease	Griscelli disease type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79478	"" []	6889536	\N	\N	EFO	10	EFO	material property	Griscelli disease type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79478	"" []	7086060	\N	\N	EFO	11	EFO	experimental factor	Griscelli disease type 3
Orphanet:79483	\N	\N	"" []	Orphanet:79483	"" []	78064	\N	\N	EFO	0	EFO	Phakomatosis cesioflammea	Phakomatosis cesioflammea
Orphanet:2875	Orphanet:79483	\N	"" []	Orphanet:79483	"" []	222503	\N	\N	EFO	1	EFO	Phakomatosis pigmentovascularis	Phakomatosis cesioflammea
Orphanet:108987	Orphanet:2875	\N	"" []	Orphanet:79483	"" []	578747	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Phakomatosis cesioflammea
Orphanet:183466	Orphanet:2875	\N	"" []	Orphanet:79483	"" []	578748	\N	\N	EFO	2	EFO	Genetic hyperpigmentation of the skin	Phakomatosis cesioflammea
Orphanet:98196	Orphanet:2875	\N	"" []	Orphanet:79483	"" []	578749	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	Phakomatosis cesioflammea
Orphanet:98638	Orphanet:2875	\N	"" []	Orphanet:79483	"" []	578750	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Phakomatosis cesioflammea
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:79483	"" []	1162325	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Phakomatosis cesioflammea
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:79483	"" []	1162326	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Phakomatosis cesioflammea
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:79483	"" []	1162327	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Phakomatosis cesioflammea
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:79483	"" []	1162328	\N	\N	EFO	3	EFO	Rare genetic eye disease	Phakomatosis cesioflammea
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:79483	"" []	2045931	\N	\N	EFO	4	EFO	Rare genetic eye disease	Phakomatosis cesioflammea
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:79483	"" []	2045932	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Phakomatosis cesioflammea
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79483	"" []	2045933	\N	\N	EFO	4	EFO	Rare genetic skin disease	Phakomatosis cesioflammea
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79483	"" []	3196022	\N	\N	EFO	5	EFO	genetic disorder	Phakomatosis cesioflammea
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79483	"" []	3196020	\N	\N	EFO	5	EFO	genetic disorder	Phakomatosis cesioflammea
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79483	"" []	3196021	\N	\N	EFO	5	EFO	eye disease	Phakomatosis cesioflammea
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79483	"" []	3196023	\N	\N	EFO	5	EFO	genetic disorder	Phakomatosis cesioflammea
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79483	"" []	3196024	\N	\N	EFO	5	EFO	skin disease	Phakomatosis cesioflammea
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79483	"" []	4134338	\N	\N	EFO	6	EFO	disease	Phakomatosis cesioflammea
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79483	"" []	4134339	\N	\N	EFO	6	EFO	disease	Phakomatosis cesioflammea
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79483	"" []	4401776	\N	\N	EFO	6	EFO	disease	Phakomatosis cesioflammea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79483	"" []	5183346	\N	\N	EFO	7	EFO	disposition	Phakomatosis cesioflammea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79483	"" []	5998689	\N	\N	EFO	8	EFO	material property	Phakomatosis cesioflammea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79483	"" []	6551746	\N	\N	EFO	9	EFO	experimental factor	Phakomatosis cesioflammea
Orphanet:79484	\N	\N	"" []	Orphanet:79484	"" []	78065	\N	\N	EFO	0	EFO	Phakomatosis cesiomarmorata	Phakomatosis cesiomarmorata
Orphanet:2875	Orphanet:79484	\N	"" []	Orphanet:79484	"" []	222504	\N	\N	EFO	1	EFO	Phakomatosis pigmentovascularis	Phakomatosis cesiomarmorata
Orphanet:108987	Orphanet:2875	\N	"" []	Orphanet:79484	"" []	578751	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Phakomatosis cesiomarmorata
Orphanet:183466	Orphanet:2875	\N	"" []	Orphanet:79484	"" []	578752	\N	\N	EFO	2	EFO	Genetic hyperpigmentation of the skin	Phakomatosis cesiomarmorata
Orphanet:98196	Orphanet:2875	\N	"" []	Orphanet:79484	"" []	578753	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	Phakomatosis cesiomarmorata
Orphanet:98638	Orphanet:2875	\N	"" []	Orphanet:79484	"" []	578754	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Phakomatosis cesiomarmorata
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:79484	"" []	1162329	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Phakomatosis cesiomarmorata
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:79484	"" []	1162330	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Phakomatosis cesiomarmorata
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:79484	"" []	1162331	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Phakomatosis cesiomarmorata
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:79484	"" []	1162332	\N	\N	EFO	3	EFO	Rare genetic eye disease	Phakomatosis cesiomarmorata
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:79484	"" []	2045937	\N	\N	EFO	4	EFO	Rare genetic eye disease	Phakomatosis cesiomarmorata
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:79484	"" []	2045938	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Phakomatosis cesiomarmorata
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79484	"" []	2045939	\N	\N	EFO	4	EFO	Rare genetic skin disease	Phakomatosis cesiomarmorata
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79484	"" []	3196029	\N	\N	EFO	5	EFO	genetic disorder	Phakomatosis cesiomarmorata
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79484	"" []	3196027	\N	\N	EFO	5	EFO	genetic disorder	Phakomatosis cesiomarmorata
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79484	"" []	3196028	\N	\N	EFO	5	EFO	eye disease	Phakomatosis cesiomarmorata
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79484	"" []	3196030	\N	\N	EFO	5	EFO	genetic disorder	Phakomatosis cesiomarmorata
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79484	"" []	3196031	\N	\N	EFO	5	EFO	skin disease	Phakomatosis cesiomarmorata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79484	"" []	4134340	\N	\N	EFO	6	EFO	disease	Phakomatosis cesiomarmorata
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79484	"" []	4134341	\N	\N	EFO	6	EFO	disease	Phakomatosis cesiomarmorata
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79484	"" []	4401778	\N	\N	EFO	6	EFO	disease	Phakomatosis cesiomarmorata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79484	"" []	5183347	\N	\N	EFO	7	EFO	disposition	Phakomatosis cesiomarmorata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79484	"" []	5998690	\N	\N	EFO	8	EFO	material property	Phakomatosis cesiomarmorata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79484	"" []	6551747	\N	\N	EFO	9	EFO	experimental factor	Phakomatosis cesiomarmorata
Orphanet:79485	\N	\N	"" []	Orphanet:79485	"" []	78066	\N	\N	EFO	0	EFO	Phakomatosis spilorosea	Phakomatosis spilorosea
Orphanet:2875	Orphanet:79485	\N	"" []	Orphanet:79485	"" []	222505	\N	\N	EFO	1	EFO	Phakomatosis pigmentovascularis	Phakomatosis spilorosea
Orphanet:108987	Orphanet:2875	\N	"" []	Orphanet:79485	"" []	578755	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Phakomatosis spilorosea
Orphanet:183466	Orphanet:2875	\N	"" []	Orphanet:79485	"" []	578756	\N	\N	EFO	2	EFO	Genetic hyperpigmentation of the skin	Phakomatosis spilorosea
Orphanet:98196	Orphanet:2875	\N	"" []	Orphanet:79485	"" []	578757	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	Phakomatosis spilorosea
Orphanet:98638	Orphanet:2875	\N	"" []	Orphanet:79485	"" []	578758	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Phakomatosis spilorosea
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:79485	"" []	1162333	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Phakomatosis spilorosea
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:79485	"" []	1162334	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Phakomatosis spilorosea
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:79485	"" []	1162335	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Phakomatosis spilorosea
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:79485	"" []	1162336	\N	\N	EFO	3	EFO	Rare genetic eye disease	Phakomatosis spilorosea
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:79485	"" []	2045943	\N	\N	EFO	4	EFO	Rare genetic eye disease	Phakomatosis spilorosea
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:79485	"" []	2045944	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Phakomatosis spilorosea
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:79485	"" []	2045945	\N	\N	EFO	4	EFO	Rare genetic skin disease	Phakomatosis spilorosea
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79485	"" []	3196036	\N	\N	EFO	5	EFO	genetic disorder	Phakomatosis spilorosea
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79485	"" []	3196034	\N	\N	EFO	5	EFO	genetic disorder	Phakomatosis spilorosea
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79485	"" []	3196035	\N	\N	EFO	5	EFO	eye disease	Phakomatosis spilorosea
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79485	"" []	3196037	\N	\N	EFO	5	EFO	genetic disorder	Phakomatosis spilorosea
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79485	"" []	3196038	\N	\N	EFO	5	EFO	skin disease	Phakomatosis spilorosea
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79485	"" []	4134342	\N	\N	EFO	6	EFO	disease	Phakomatosis spilorosea
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79485	"" []	4134343	\N	\N	EFO	6	EFO	disease	Phakomatosis spilorosea
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79485	"" []	4401780	\N	\N	EFO	6	EFO	disease	Phakomatosis spilorosea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79485	"" []	5183348	\N	\N	EFO	7	EFO	disposition	Phakomatosis spilorosea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79485	"" []	5998691	\N	\N	EFO	8	EFO	material property	Phakomatosis spilorosea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79485	"" []	6551748	\N	\N	EFO	9	EFO	experimental factor	Phakomatosis spilorosea
Orphanet:79492	\N	\N	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	Orphanet:79492	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	78067	\N	\N	EFO	0	EFO	Pili gemini	Pili gemini
Orphanet:79366	Orphanet:79492	\N	"" []	Orphanet:79492	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	222506	\N	\N	EFO	1	EFO	Isolated hair shaft abnormality	Pili gemini
Orphanet:183450	Orphanet:79366	\N	"" []	Orphanet:79492	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	578759	\N	\N	EFO	2	EFO	Genetic hair anomaly	Pili gemini
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:79492	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	1162337	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Pili gemini
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79492	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	2045949	\N	\N	EFO	4	EFO	Rare genetic skin disease	Pili gemini
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79492	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	3196041	\N	\N	EFO	5	EFO	genetic disorder	Pili gemini
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79492	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	3196042	\N	\N	EFO	5	EFO	skin disease	Pili gemini
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79492	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	4401782	\N	\N	EFO	6	EFO	disease	Pili gemini
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79492	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	4401783	\N	\N	EFO	6	EFO	disease	Pili gemini
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79492	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	5418006	\N	\N	EFO	7	EFO	disposition	Pili gemini
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79492	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	6152755	\N	\N	EFO	8	EFO	material property	Pili gemini
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79492	"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." []	6634161	\N	\N	EFO	9	EFO	experimental factor	Pili gemini
Orphanet:79493	\N	\N	"" []	Orphanet:79493	"" []	78068	\N	\N	EFO	0	EFO	Brooke-Spiegler syndrome	Brooke-Spiegler syndrome
Orphanet:183487	Orphanet:79493	\N	"" []	Orphanet:79493	"" []	222507	\N	\N	EFO	1	EFO	Genetic skin tumor	Brooke-Spiegler syndrome
Orphanet:98590	Orphanet:79493	\N	"" []	Orphanet:79493	"" []	222508	\N	\N	EFO	1	EFO	Palpebral piliary tumor	Brooke-Spiegler syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:79493	"" []	578760	\N	\N	EFO	2	EFO	skin neoplasm	Brooke-Spiegler syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:79493	"" []	578761	\N	\N	EFO	2	EFO	Rare genetic tumor	Brooke-Spiegler syndrome
Orphanet:98580	Orphanet:98590	\N	"" []	Orphanet:79493	"" []	578762	\N	\N	EFO	2	EFO	Palpebral tumor	Brooke-Spiegler syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:79493	"" []	1162338	\N	\N	EFO	3	EFO	neoplasm	Brooke-Spiegler syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79493	"" []	1162339	\N	\N	EFO	3	EFO	skin disease	Brooke-Spiegler syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79493	"" []	1162340	\N	\N	EFO	3	EFO	genetic disorder	Brooke-Spiegler syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:79493	"" []	1162341	\N	\N	EFO	3	EFO	neoplasm	Brooke-Spiegler syndrome
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:79493	"" []	1162342	\N	\N	EFO	3	EFO	Rare palpebral disease	Brooke-Spiegler syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79493	"" []	2045950	\N	\N	EFO	4	EFO	disease	Brooke-Spiegler syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79493	"" []	2045951	\N	\N	EFO	4	EFO	disease	Brooke-Spiegler syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79493	"" []	5418008	\N	\N	EFO	7	EFO	disease	Brooke-Spiegler syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:79493	"" []	2045953	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Brooke-Spiegler syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79493	"" []	5817862	\N	\N	EFO	8	EFO	disposition	Brooke-Spiegler syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:79493	"" []	3196044	\N	\N	EFO	5	EFO	Rare genetic eye disease	Brooke-Spiegler syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79493	"" []	6410363	\N	\N	EFO	9	EFO	material property	Brooke-Spiegler syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79493	"" []	4401785	\N	\N	EFO	6	EFO	genetic disorder	Brooke-Spiegler syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79493	"" []	4401786	\N	\N	EFO	6	EFO	eye disease	Brooke-Spiegler syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79493	"" []	6808174	\N	\N	EFO	10	EFO	experimental factor	Brooke-Spiegler syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79493	"" []	5418009	\N	\N	EFO	7	EFO	disease	Brooke-Spiegler syndrome
Orphanet:79495	\N	\N	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	78069	\N	\N	EFO	0	EFO	X-linked congenital generalized hypertrichosis	X-linked congenital generalized hypertrichosis
Orphanet:2222	Orphanet:79495	\N	"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	222509	\N	\N	EFO	1	EFO	Hypertrichosis lanuginosa congenita	X-linked congenital generalized hypertrichosis
Orphanet:79365	Orphanet:2222	\N	"" []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	578763	\N	\N	EFO	2	EFO	Hypertrichosis	X-linked congenital generalized hypertrichosis
Orphanet:79373	Orphanet:2222	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	578764	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	X-linked congenital generalized hypertrichosis
Orphanet:98595	Orphanet:2222	\N	"" []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	578765	\N	\N	EFO	2	EFO	Eyebrow/eyelashes hypertrichosis	X-linked congenital generalized hypertrichosis
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	1162343	\N	\N	EFO	3	EFO	Genetic hair anomaly	X-linked congenital generalized hypertrichosis
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	1162344	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	X-linked congenital generalized hypertrichosis
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	1162345	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	X-linked congenital generalized hypertrichosis
Orphanet:98594	Orphanet:98595	\N	"" []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	1162346	\N	\N	EFO	3	EFO	Rare eyebrow/eyelashes anomaly	X-linked congenital generalized hypertrichosis
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	2045954	\N	\N	EFO	4	EFO	Genetic epidermal appendage anomaly	X-linked congenital generalized hypertrichosis
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	2045955	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked congenital generalized hypertrichosis
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	3196045	\N	\N	EFO	5	EFO	Rare genetic skin disease	X-linked congenital generalized hypertrichosis
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	2045957	\N	\N	EFO	4	EFO	Rare palpebral disease	X-linked congenital generalized hypertrichosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	3196046	\N	\N	EFO	5	EFO	genetic disorder	X-linked congenital generalized hypertrichosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	4134344	\N	\N	EFO	6	EFO	genetic disorder	X-linked congenital generalized hypertrichosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	4134345	\N	\N	EFO	6	EFO	skin disease	X-linked congenital generalized hypertrichosis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	3196049	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	X-linked congenital generalized hypertrichosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	6152757	\N	\N	EFO	8	EFO	disease	X-linked congenital generalized hypertrichosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	5183350	\N	\N	EFO	7	EFO	disease	X-linked congenital generalized hypertrichosis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	4401789	\N	\N	EFO	6	EFO	Rare genetic eye disease	X-linked congenital generalized hypertrichosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	6470966	\N	\N	EFO	9	EFO	disposition	X-linked congenital generalized hypertrichosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	5418011	\N	\N	EFO	7	EFO	genetic disorder	X-linked congenital generalized hypertrichosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	5418012	\N	\N	EFO	7	EFO	eye disease	X-linked congenital generalized hypertrichosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	6848813	\N	\N	EFO	10	EFO	material property	X-linked congenital generalized hypertrichosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	6152758	\N	\N	EFO	8	EFO	disease	X-linked congenital generalized hypertrichosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79495	"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." []	7068534	\N	\N	EFO	11	EFO	experimental factor	X-linked congenital generalized hypertrichosis
Orphanet:79499	\N	\N	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	78070	\N	\N	EFO	0	EFO	Autosomal dominant deafness-onychodystrophy syndrome	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:3231	Orphanet:79499	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	222510	\N	\N	EFO	1	EFO	Deafness-onychodystrophy syndrome	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:183763	Orphanet:3231	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	578766	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:79370	Orphanet:3231	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	578767	\N	\N	EFO	2	EFO	Syndromic nail anomaly	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:79373	Orphanet:3231	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	578768	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:90642	Orphanet:3231	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	578769	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	1162347	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	1162348	\N	\N	EFO	3	EFO	Genetic nail anomaly	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	1162349	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	1162350	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	1162351	\N	\N	EFO	3	EFO	Rare genetic deafness	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	2045958	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	2045959	\N	\N	EFO	4	EFO	Genetic epidermal appendage anomaly	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	2045960	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	3196051	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal dominant deafness-onychodystrophy syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	2045962	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant deafness-onychodystrophy syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	2045963	\N	\N	EFO	4	EFO	auditory system disease	Autosomal dominant deafness-onychodystrophy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	3196050	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant deafness-onychodystrophy syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	3196052	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant deafness-onychodystrophy syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	4134346	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant deafness-onychodystrophy syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	4134347	\N	\N	EFO	6	EFO	skin disease	Autosomal dominant deafness-onychodystrophy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	5183351	\N	\N	EFO	7	EFO	disease	Autosomal dominant deafness-onychodystrophy syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	3196056	\N	\N	EFO	5	EFO	sensory system disease	Autosomal dominant deafness-onychodystrophy syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	5183352	\N	\N	EFO	7	EFO	disease	Autosomal dominant deafness-onychodystrophy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	5877747	\N	\N	EFO	8	EFO	disposition	Autosomal dominant deafness-onychodystrophy syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	4401793	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant deafness-onychodystrophy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	6470967	\N	\N	EFO	9	EFO	material property	Autosomal dominant deafness-onychodystrophy syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	5418014	\N	\N	EFO	7	EFO	disease	Autosomal dominant deafness-onychodystrophy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79499	"Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." []	6848814	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant deafness-onychodystrophy syndrome
Orphanet:79500	\N	\N	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	78071	\N	\N	EFO	0	EFO	DOORS syndrome	DOORS syndrome
Orphanet:3231	Orphanet:79500	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	222511	\N	\N	EFO	1	EFO	Deafness-onychodystrophy syndrome	DOORS syndrome
Orphanet:183763	Orphanet:3231	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	578770	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	DOORS syndrome
Orphanet:79370	Orphanet:3231	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	578771	\N	\N	EFO	2	EFO	Syndromic nail anomaly	DOORS syndrome
Orphanet:79373	Orphanet:3231	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	578772	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	DOORS syndrome
Orphanet:90642	Orphanet:3231	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	578773	\N	\N	EFO	2	EFO	Syndromic genetic deafness	DOORS syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	1162352	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	DOORS syndrome
Orphanet:183454	Orphanet:79370	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	1162353	\N	\N	EFO	3	EFO	Genetic nail anomaly	DOORS syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	1162354	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	DOORS syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	1162355	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	DOORS syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	1162356	\N	\N	EFO	3	EFO	Rare genetic deafness	DOORS syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	2045964	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	DOORS syndrome
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	2045965	\N	\N	EFO	4	EFO	Genetic epidermal appendage anomaly	DOORS syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	2045966	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	DOORS syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	3196058	\N	\N	EFO	5	EFO	Rare genetic skin disease	DOORS syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	2045968	\N	\N	EFO	4	EFO	genetic disorder	DOORS syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	2045969	\N	\N	EFO	4	EFO	auditory system disease	DOORS syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	3196057	\N	\N	EFO	5	EFO	genetic disorder	DOORS syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	3196059	\N	\N	EFO	5	EFO	genetic disorder	DOORS syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	4134348	\N	\N	EFO	6	EFO	genetic disorder	DOORS syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	4134349	\N	\N	EFO	6	EFO	skin disease	DOORS syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	5183354	\N	\N	EFO	7	EFO	disease	DOORS syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	3196063	\N	\N	EFO	5	EFO	sensory system disease	DOORS syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	5183355	\N	\N	EFO	7	EFO	disease	DOORS syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	5877748	\N	\N	EFO	8	EFO	disposition	DOORS syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	4401797	\N	\N	EFO	6	EFO	nervous system disease	DOORS syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	6470968	\N	\N	EFO	9	EFO	material property	DOORS syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	5418016	\N	\N	EFO	7	EFO	disease	DOORS syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79500	"DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures." []	6848815	\N	\N	EFO	10	EFO	experimental factor	DOORS syndrome
Orphanet:79501	\N	\N	"" []	Orphanet:79501	"" []	78072	\N	\N	EFO	0	EFO	Punctate palmoplantar keratoderma type 1	Punctate palmoplantar keratoderma type 1
Orphanet:2338	Orphanet:79501	\N	"" []	Orphanet:79501	"" []	222512	\N	\N	EFO	1	EFO	Isolated punctate palmoplantar keratoderma	Punctate palmoplantar keratoderma type 1
Orphanet:307967	Orphanet:2338	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:79501	"" []	578774	\N	\N	EFO	2	EFO	Punctate palmoplantar keratoderma	Punctate palmoplantar keratoderma type 1
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:79501	"" []	1162357	\N	\N	EFO	3	EFO	palmoplantar keratosis	Punctate palmoplantar keratoderma type 1
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:79501	"" []	1162358	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Punctate palmoplantar keratoderma type 1
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:79501	"" []	2045970	\N	\N	EFO	4	EFO	keratosis	Punctate palmoplantar keratoderma type 1
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:79501	"" []	2045971	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Punctate palmoplantar keratoderma type 1
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79501	"" []	3196064	\N	\N	EFO	5	EFO	skin disease	Punctate palmoplantar keratoderma type 1
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79501	"" []	3196065	\N	\N	EFO	5	EFO	Rare genetic skin disease	Punctate palmoplantar keratoderma type 1
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79501	"" []	5418019	\N	\N	EFO	7	EFO	disease	Punctate palmoplantar keratoderma type 1
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79501	"" []	4401799	\N	\N	EFO	6	EFO	genetic disorder	Punctate palmoplantar keratoderma type 1
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79501	"" []	4401800	\N	\N	EFO	6	EFO	skin disease	Punctate palmoplantar keratoderma type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79501	"" []	5998695	\N	\N	EFO	8	EFO	disposition	Punctate palmoplantar keratoderma type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79501	"" []	5418018	\N	\N	EFO	7	EFO	disease	Punctate palmoplantar keratoderma type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79501	"" []	6551752	\N	\N	EFO	9	EFO	material property	Punctate palmoplantar keratoderma type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79501	"" []	6889538	\N	\N	EFO	10	EFO	experimental factor	Punctate palmoplantar keratoderma type 1
Orphanet:79502	\N	\N	"" []	Orphanet:79502	"" []	78073	\N	\N	EFO	0	EFO	Punctate palmoplantar keratoderma type 2	Punctate palmoplantar keratoderma type 2
Orphanet:2338	Orphanet:79502	\N	"" []	Orphanet:79502	"" []	222513	\N	\N	EFO	1	EFO	Isolated punctate palmoplantar keratoderma	Punctate palmoplantar keratoderma type 2
Orphanet:307967	Orphanet:2338	\N	"A palmoplantar keratosis characterized by keratoses with a \\"raindrop\\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." []	Orphanet:79502	"" []	578775	\N	\N	EFO	2	EFO	Punctate palmoplantar keratoderma	Punctate palmoplantar keratoderma type 2
EFO:1000745	Orphanet:307967	\N	"A keratosis characterized by abnormal thickening of the palms and the soles." []	Orphanet:79502	"" []	1162359	\N	\N	EFO	3	EFO	palmoplantar keratosis	Punctate palmoplantar keratoderma type 2
Orphanet:79357	Orphanet:307967	\N	"" []	Orphanet:79502	"" []	1162360	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Punctate palmoplantar keratoderma type 2
EFO:1000720	EFO:1000745	\N	"A skin disease characterized_by growth of keratin on the skin or mucous membranes." []	Orphanet:79502	"" []	2045972	\N	\N	EFO	4	EFO	keratosis	Punctate palmoplantar keratoderma type 2
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:79502	"" []	2045973	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Punctate palmoplantar keratoderma type 2
EFO:0000701	EFO:1000720	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79502	"" []	3196066	\N	\N	EFO	5	EFO	skin disease	Punctate palmoplantar keratoderma type 2
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79502	"" []	3196067	\N	\N	EFO	5	EFO	Rare genetic skin disease	Punctate palmoplantar keratoderma type 2
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79502	"" []	5418022	\N	\N	EFO	7	EFO	disease	Punctate palmoplantar keratoderma type 2
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79502	"" []	4401802	\N	\N	EFO	6	EFO	genetic disorder	Punctate palmoplantar keratoderma type 2
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79502	"" []	4401803	\N	\N	EFO	6	EFO	skin disease	Punctate palmoplantar keratoderma type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79502	"" []	5998696	\N	\N	EFO	8	EFO	disposition	Punctate palmoplantar keratoderma type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79502	"" []	5418021	\N	\N	EFO	7	EFO	disease	Punctate palmoplantar keratoderma type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79502	"" []	6551753	\N	\N	EFO	9	EFO	material property	Punctate palmoplantar keratoderma type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79502	"" []	6889539	\N	\N	EFO	10	EFO	experimental factor	Punctate palmoplantar keratoderma type 2
Orphanet:79503	\N	\N	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	78074	\N	\N	EFO	0	EFO	Ichthyosis hystrix of Curth-Macklin	Ichthyosis hystrix of Curth-Macklin
Orphanet:281103	Orphanet:79503	\N	"" []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	222514	\N	\N	EFO	1	EFO	Keratinopathic ichthyosis	Ichthyosis hystrix of Curth-Macklin
Orphanet:281082	Orphanet:281103	\N	"" []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	578776	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Ichthyosis hystrix of Curth-Macklin
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	1162361	\N	\N	EFO	3	EFO	Inherited ichthyosis	Ichthyosis hystrix of Curth-Macklin
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	2045974	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Ichthyosis hystrix of Curth-Macklin
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	3196068	\N	\N	EFO	5	EFO	Rare genetic skin disease	Ichthyosis hystrix of Curth-Macklin
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	4401804	\N	\N	EFO	6	EFO	genetic disorder	Ichthyosis hystrix of Curth-Macklin
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	4401805	\N	\N	EFO	6	EFO	skin disease	Ichthyosis hystrix of Curth-Macklin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	5418023	\N	\N	EFO	7	EFO	disease	Ichthyosis hystrix of Curth-Macklin
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	5418024	\N	\N	EFO	7	EFO	disease	Ichthyosis hystrix of Curth-Macklin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	6152763	\N	\N	EFO	8	EFO	disposition	Ichthyosis hystrix of Curth-Macklin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	6634165	\N	\N	EFO	9	EFO	material property	Ichthyosis hystrix of Curth-Macklin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79503	"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." []	6926257	\N	\N	EFO	10	EFO	experimental factor	Ichthyosis hystrix of Curth-Macklin
Orphanet:79504	\N	\N	"" []	Orphanet:79504	"" []	78075	\N	\N	EFO	0	EFO	Ichthyosis hystrix gravior	Ichthyosis hystrix gravior
Orphanet:281103	Orphanet:79504	\N	"" []	Orphanet:79504	"" []	222515	\N	\N	EFO	1	EFO	Keratinopathic ichthyosis	Ichthyosis hystrix gravior
Orphanet:281082	Orphanet:281103	\N	"" []	Orphanet:79504	"" []	578777	\N	\N	EFO	2	EFO	Inherited non-syndromic ichthyosis	Ichthyosis hystrix gravior
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:79504	"" []	1162362	\N	\N	EFO	3	EFO	Inherited ichthyosis	Ichthyosis hystrix gravior
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:79504	"" []	2045975	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Ichthyosis hystrix gravior
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:79504	"" []	3196069	\N	\N	EFO	5	EFO	Rare genetic skin disease	Ichthyosis hystrix gravior
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79504	"" []	4401806	\N	\N	EFO	6	EFO	genetic disorder	Ichthyosis hystrix gravior
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79504	"" []	4401807	\N	\N	EFO	6	EFO	skin disease	Ichthyosis hystrix gravior
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79504	"" []	5418025	\N	\N	EFO	7	EFO	disease	Ichthyosis hystrix gravior
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79504	"" []	5418026	\N	\N	EFO	7	EFO	disease	Ichthyosis hystrix gravior
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79504	"" []	6152764	\N	\N	EFO	8	EFO	disposition	Ichthyosis hystrix gravior
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79504	"" []	6634166	\N	\N	EFO	9	EFO	material property	Ichthyosis hystrix gravior
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79504	"" []	6926258	\N	\N	EFO	10	EFO	experimental factor	Ichthyosis hystrix gravior
Orphanet:79506	\N	\N	"" []	Orphanet:79506	"" []	78076	\N	\N	EFO	0	EFO	Cholesterol-ester transfer protein deficiency	Cholesterol-ester transfer protein deficiency
Orphanet:181428	Orphanet:79506	\N	"" []	Orphanet:79506	"" []	222516	\N	\N	EFO	1	EFO	Hyperalphalipoproteinemia	Cholesterol-ester transfer protein deficiency
Orphanet:181422	Orphanet:181428	\N	"" []	Orphanet:79506	"" []	578778	\N	\N	EFO	2	EFO	Rare hyperlipidemia	Cholesterol-ester transfer protein deficiency
Orphanet:101953	Orphanet:181422	\N	"" []	Orphanet:79506	"" []	1162363	\N	\N	EFO	3	EFO	Rare dyslipidemia	Cholesterol-ester transfer protein deficiency
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:79506	"" []	2045976	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Cholesterol-ester transfer protein deficiency
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:79506	"" []	2045977	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Cholesterol-ester transfer protein deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79506	"" []	3196070	\N	\N	EFO	5	EFO	genetic disorder	Cholesterol-ester transfer protein deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79506	"" []	3196071	\N	\N	EFO	5	EFO	endocrine system disease	Cholesterol-ester transfer protein deficiency
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:79506	"" []	3196072	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Cholesterol-ester transfer protein deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79506	"" []	5418028	\N	\N	EFO	7	EFO	disease	Cholesterol-ester transfer protein deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79506	"" []	4401809	\N	\N	EFO	6	EFO	disease	Cholesterol-ester transfer protein deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79506	"" []	4401810	\N	\N	EFO	6	EFO	genetic disorder	Cholesterol-ester transfer protein deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79506	"" []	4401811	\N	\N	EFO	6	EFO	metabolic disease	Cholesterol-ester transfer protein deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79506	"" []	5998697	\N	\N	EFO	8	EFO	disposition	Cholesterol-ester transfer protein deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79506	"" []	5418029	\N	\N	EFO	7	EFO	disease	Cholesterol-ester transfer protein deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79506	"" []	6551754	\N	\N	EFO	9	EFO	material property	Cholesterol-ester transfer protein deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79506	"" []	6889540	\N	\N	EFO	10	EFO	experimental factor	Cholesterol-ester transfer protein deficiency
Orphanet:79507	\N	\N	"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." []	Orphanet:79507	"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." []	78077	\N	\N	EFO	0	EFO	Hypotonia - failure to thrive - microcephaly	Hypotonia - failure to thrive - microcephaly
Orphanet:91088	Orphanet:79507	\N	"" []	Orphanet:79507	"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." []	222517	\N	\N	EFO	1	EFO	Other metabolic disease	Hypotonia - failure to thrive - microcephaly
Orphanet:68367	Orphanet:91088	\N	"" []	Orphanet:79507	"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." []	578779	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Hypotonia - failure to thrive - microcephaly
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79507	"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." []	1162364	\N	\N	EFO	3	EFO	genetic disorder	Hypotonia - failure to thrive - microcephaly
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79507	"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." []	1162365	\N	\N	EFO	3	EFO	metabolic disease	Hypotonia - failure to thrive - microcephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79507	"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." []	2045978	\N	\N	EFO	4	EFO	disease	Hypotonia - failure to thrive - microcephaly
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79507	"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." []	2045979	\N	\N	EFO	4	EFO	disease	Hypotonia - failure to thrive - microcephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79507	"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." []	3196073	\N	\N	EFO	5	EFO	disposition	Hypotonia - failure to thrive - microcephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79507	"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." []	4401812	\N	\N	EFO	6	EFO	material property	Hypotonia - failure to thrive - microcephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79507	"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." []	5418030	\N	\N	EFO	7	EFO	experimental factor	Hypotonia - failure to thrive - microcephaly
Orphanet:796	\N	\N	"" []	Orphanet:796	"" []	78078	\N	\N	EFO	0	EFO	Sandhoff disease	Sandhoff disease
Orphanet:207018	Orphanet:796	\N	"" []	Orphanet:796	"" []	222518	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Sandhoff disease
Orphanet:309152	Orphanet:796	\N	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	Orphanet:796	"" []	222519	\N	\N	EFO	1	EFO	GM2 gangliosidosis	Sandhoff disease
Orphanet:98714	Orphanet:796	\N	"" []	Orphanet:796	"" []	222520	\N	\N	EFO	1	EFO	Metabolic disease with macular cherry-red spot	Sandhoff disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:796	"" []	578780	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Sandhoff disease
Orphanet:183500	Orphanet:309152	\N	"" []	Orphanet:796	"" []	578781	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Sandhoff disease
Orphanet:309144	Orphanet:309152	\N	"" []	Orphanet:796	"" []	578782	\N	\N	EFO	2	EFO	Gangliosidosis	Sandhoff disease
Orphanet:68385	Orphanet:309152	\N	"" []	Orphanet:796	"" []	578783	\N	\N	EFO	2	EFO	Neurometabolic disease	Sandhoff disease
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:796	"" []	578784	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Sandhoff disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:796	"" []	1162366	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Sandhoff disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:796	"" []	1162367	\N	\N	EFO	3	EFO	neurodegenerative disease	Sandhoff disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:796	"" []	1162368	\N	\N	EFO	3	EFO	brain disease	Sandhoff disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:796	"" []	1162369	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Sandhoff disease
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:796	"" []	1162370	\N	\N	EFO	3	EFO	Sphingolipidosis	Sandhoff disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:796	"" []	1162371	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Sandhoff disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:796	"" []	1162372	\N	\N	EFO	3	EFO	Rare genetic eye disease	Sandhoff disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:796	"" []	2045980	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sandhoff disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:796	"" []	2045981	\N	\N	EFO	4	EFO	nervous system disease	Sandhoff disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:796	"" []	2045982	\N	\N	EFO	4	EFO	nervous system disease	Sandhoff disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:796	"" []	3196074	\N	\N	EFO	5	EFO	genetic disorder	Sandhoff disease
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:796	"" []	2045984	\N	\N	EFO	4	EFO	Lysosomal disease	Sandhoff disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:796	"" []	2045985	\N	\N	EFO	4	EFO	genetic disorder	Sandhoff disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:796	"" []	2045986	\N	\N	EFO	4	EFO	eye disease	Sandhoff disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:796	"" []	3196075	\N	\N	EFO	5	EFO	disease	Sandhoff disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:796	"" []	5418032	\N	\N	EFO	7	EFO	disease	Sandhoff disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:796	"" []	3196077	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Sandhoff disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:796	"" []	3196078	\N	\N	EFO	5	EFO	disease	Sandhoff disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:796	"" []	5877749	\N	\N	EFO	8	EFO	disposition	Sandhoff disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:796	"" []	4401814	\N	\N	EFO	6	EFO	genetic disorder	Sandhoff disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:796	"" []	4401815	\N	\N	EFO	6	EFO	metabolic disease	Sandhoff disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:796	"" []	6470969	\N	\N	EFO	9	EFO	material property	Sandhoff disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:796	"" []	5418033	\N	\N	EFO	7	EFO	disease	Sandhoff disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:796	"" []	6848816	\N	\N	EFO	10	EFO	experimental factor	Sandhoff disease
Orphanet:79643	\N	\N	"" []	Orphanet:79643	"" []	78079	\N	\N	EFO	0	EFO	Autosomal recessive hyperinsulinism due to SUR1 deficiency	Autosomal recessive hyperinsulinism due to SUR1 deficiency
Orphanet:165988	Orphanet:79643	\N	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	Orphanet:79643	"" []	222521	\N	\N	EFO	1	EFO	Diazoxide-resistant diffuse hyperinsulinism	Autosomal recessive hyperinsulinism due to SUR1 deficiency
Orphanet:276585	Orphanet:165988	\N	"" []	Orphanet:79643	"" []	578785	\N	\N	EFO	2	EFO	Diazoxide-resistant hyperinsulinism	Autosomal recessive hyperinsulinism due to SUR1 deficiency
Orphanet:657	Orphanet:276585	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:79643	"" []	1162373	\N	\N	EFO	3	EFO	Congenital isolated hyperinsulinism	Autosomal recessive hyperinsulinism due to SUR1 deficiency
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:79643	"" []	2045987	\N	\N	EFO	4	EFO	Familial hyperinsulinism	Autosomal recessive hyperinsulinism due to SUR1 deficiency
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:79643	"" []	2045988	\N	\N	EFO	4	EFO	Overgrowth syndrome	Autosomal recessive hyperinsulinism due to SUR1 deficiency
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:79643	"" []	3196079	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Autosomal recessive hyperinsulinism due to SUR1 deficiency
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:79643	"" []	3196080	\N	\N	EFO	5	EFO	Genetic overgrowth/obesity syndrome	Autosomal recessive hyperinsulinism due to SUR1 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79643	"" []	4401816	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive hyperinsulinism due to SUR1 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79643	"" []	4401817	\N	\N	EFO	6	EFO	endocrine system disease	Autosomal recessive hyperinsulinism due to SUR1 deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:79643	"" []	4401818	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive hyperinsulinism due to SUR1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79643	"" []	6152768	\N	\N	EFO	8	EFO	disease	Autosomal recessive hyperinsulinism due to SUR1 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79643	"" []	5418035	\N	\N	EFO	7	EFO	disease	Autosomal recessive hyperinsulinism due to SUR1 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79643	"" []	5418036	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive hyperinsulinism due to SUR1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79643	"" []	6551756	\N	\N	EFO	9	EFO	disposition	Autosomal recessive hyperinsulinism due to SUR1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79643	"" []	6889541	\N	\N	EFO	10	EFO	material property	Autosomal recessive hyperinsulinism due to SUR1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79643	"" []	7086061	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive hyperinsulinism due to SUR1 deficiency
Orphanet:79644	\N	\N	"" []	Orphanet:79644	"" []	78080	\N	\N	EFO	0	EFO	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Orphanet:165988	Orphanet:79644	\N	"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." []	Orphanet:79644	"" []	222522	\N	\N	EFO	1	EFO	Diazoxide-resistant diffuse hyperinsulinism	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Orphanet:276585	Orphanet:165988	\N	"" []	Orphanet:79644	"" []	578786	\N	\N	EFO	2	EFO	Diazoxide-resistant hyperinsulinism	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Orphanet:657	Orphanet:276585	\N	"Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." []	Orphanet:79644	"" []	1162374	\N	\N	EFO	3	EFO	Congenital isolated hyperinsulinism	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Orphanet:276525	Orphanet:657	\N	"" []	Orphanet:79644	"" []	2045989	\N	\N	EFO	4	EFO	Familial hyperinsulinism	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Orphanet:93460	Orphanet:657	\N	"" []	Orphanet:79644	"" []	2045990	\N	\N	EFO	4	EFO	Overgrowth syndrome	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Orphanet:156638	Orphanet:276525	\N	"" []	Orphanet:79644	"" []	3196081	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:79644	"" []	3196082	\N	\N	EFO	5	EFO	Genetic overgrowth/obesity syndrome	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79644	"" []	4401819	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:79644	"" []	4401820	\N	\N	EFO	6	EFO	endocrine system disease	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:79644	"" []	4401821	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79644	"" []	6152770	\N	\N	EFO	8	EFO	disease	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79644	"" []	5418038	\N	\N	EFO	7	EFO	disease	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79644	"" []	5418039	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79644	"" []	6551757	\N	\N	EFO	9	EFO	disposition	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79644	"" []	6889542	\N	\N	EFO	10	EFO	material property	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79644	"" []	7086062	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Orphanet:79651	\N	\N	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	78081	\N	\N	EFO	0	EFO	Mild hyperphenylalaninemia	Mild hyperphenylalaninemia
Orphanet:716	Orphanet:79651	\N	"Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	222523	\N	\N	EFO	1	EFO	Phenylketonuria	Mild hyperphenylalaninemia
Orphanet:284814	Orphanet:716	\N	"" []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	578787	\N	\N	EFO	2	EFO	Disorder of phenylalanine metabolism	Mild hyperphenylalaninemia
Orphanet:68385	Orphanet:716	\N	"" []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	578788	\N	\N	EFO	2	EFO	Neurometabolic disease	Mild hyperphenylalaninemia
Orphanet:79190	Orphanet:284814	\N	"" []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	1162375	\N	\N	EFO	3	EFO	Disorder of phenylalanin or tyrosine metabolism	Mild hyperphenylalaninemia
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	1162376	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Mild hyperphenylalaninemia
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	2045991	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	Mild hyperphenylalaninemia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	2045992	\N	\N	EFO	4	EFO	genetic disorder	Mild hyperphenylalaninemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	3196083	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Mild hyperphenylalaninemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	5418040	\N	\N	EFO	7	EFO	disease	Mild hyperphenylalaninemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	4401822	\N	\N	EFO	6	EFO	genetic disorder	Mild hyperphenylalaninemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	4401823	\N	\N	EFO	6	EFO	metabolic disease	Mild hyperphenylalaninemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	5877750	\N	\N	EFO	8	EFO	disposition	Mild hyperphenylalaninemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	5418041	\N	\N	EFO	7	EFO	disease	Mild hyperphenylalaninemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	6470970	\N	\N	EFO	9	EFO	material property	Mild hyperphenylalaninemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79651	"Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." []	6848817	\N	\N	EFO	10	EFO	experimental factor	Mild hyperphenylalaninemia
Orphanet:79665	\N	\N	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	78082	\N	\N	EFO	0	EFO	Gardner syndrome	Gardner syndrome
Orphanet:183487	Orphanet:79665	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	222524	\N	\N	EFO	1	EFO	Genetic skin tumor	Gardner syndrome
Orphanet:733	Orphanet:79665	\N	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	222525	\N	\N	EFO	1	EFO	Familial adenomatous polyposis	Gardner syndrome
Orphanet:98196	Orphanet:79665	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	222526	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Gardner syndrome
Orphanet:98585	Orphanet:79665	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	222527	\N	\N	EFO	1	EFO	Palpebral sebaceous gland tumor	Gardner syndrome
Orphanet:98703	Orphanet:79665	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	222528	\N	\N	EFO	1	EFO	Disease with potential neoplastic degeneration associated with ocular features	Gardner syndrome
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	578789	\N	\N	EFO	2	EFO	skin neoplasm	Gardner syndrome
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	578790	\N	\N	EFO	2	EFO	Rare genetic tumor	Gardner syndrome
Orphanet:140162	Orphanet:733	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	578791	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Gardner syndrome
Orphanet:271835	Orphanet:733	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	578792	\N	\N	EFO	2	EFO	Genetic digestive tract tumor	Gardner syndrome
Orphanet:363314	Orphanet:733	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	578793	\N	\N	EFO	2	EFO	Genetic intestinal polyposis	Gardner syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	578794	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Gardner syndrome
Orphanet:98580	Orphanet:98585	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	578795	\N	\N	EFO	2	EFO	Palpebral tumor	Gardner syndrome
Orphanet:98696	Orphanet:98703	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	578796	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Gardner syndrome
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	1162377	\N	\N	EFO	3	EFO	neoplasm	Gardner syndrome
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	1162378	\N	\N	EFO	3	EFO	skin disease	Gardner syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	2045997	\N	\N	EFO	4	EFO	genetic disorder	Gardner syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	2045998	\N	\N	EFO	4	EFO	neoplasm	Gardner syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	1162381	\N	\N	EFO	3	EFO	genetic disorder	Gardner syndrome
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	1162382	\N	\N	EFO	3	EFO	digestive system disease	Gardner syndrome
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	1162383	\N	\N	EFO	3	EFO	Rare genetic tumor	Gardner syndrome
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	1162384	\N	\N	EFO	3	EFO	Genetic intestinal disease	Gardner syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	1162385	\N	\N	EFO	3	EFO	genetic disorder	Gardner syndrome
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	1162386	\N	\N	EFO	3	EFO	Rare palpebral disease	Gardner syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	1162387	\N	\N	EFO	3	EFO	Rare genetic eye disease	Gardner syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	3000449	\N	\N	EFO	5	EFO	disease	Gardner syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	2045994	\N	\N	EFO	4	EFO	disease	Gardner syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	5060261	\N	\N	EFO	7	EFO	disease	Gardner syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	3196086	\N	\N	EFO	5	EFO	disease	Gardner syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	2045999	\N	\N	EFO	4	EFO	digestive system disease	Gardner syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	2046000	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Gardner syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	2046001	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Gardner syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	4401827	\N	\N	EFO	6	EFO	genetic disorder	Gardner syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	4401828	\N	\N	EFO	6	EFO	eye disease	Gardner syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	5817863	\N	\N	EFO	8	EFO	disposition	Gardner syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	3196087	\N	\N	EFO	5	EFO	genetic disorder	Gardner syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	3196088	\N	\N	EFO	5	EFO	Rare genetic eye disease	Gardner syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	5060262	\N	\N	EFO	7	EFO	disease	Gardner syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	6410364	\N	\N	EFO	9	EFO	material property	Gardner syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:79665	"Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term)." []	6808175	\N	\N	EFO	10	EFO	experimental factor	Gardner syndrome
Orphanet:797	\N	\N	"" []	Orphanet:797	"" []	78083	\N	\N	EFO	0	EFO	Sarcoidosis	Sarcoidosis
EFO:0003818	Orphanet:797	\N	"Pathological processes involving any part of the LUNG." []	Orphanet:797	"" []	222529	\N	\N	EFO	1	EFO	lung disease	Sarcoidosis
EFO:0000684	EFO:0003818	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:797	"" []	578797	\N	\N	EFO	2	EFO	respiratory system disease	Sarcoidosis
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:797	"" []	1162388	\N	\N	EFO	3	EFO	disease	Sarcoidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:797	"" []	2046004	\N	\N	EFO	4	EFO	disposition	Sarcoidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:797	"" []	3196090	\N	\N	EFO	5	EFO	material property	Sarcoidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:797	"" []	4401829	\N	\N	EFO	6	EFO	experimental factor	Sarcoidosis
Orphanet:798	\N	\N	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	78084	\N	\N	EFO	0	EFO	Schinzel-Giedion syndrome	Schinzel-Giedion syndrome
Orphanet:183422	Orphanet:798	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	222530	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Schinzel-Giedion syndrome
Orphanet:330197	Orphanet:798	\N	"" []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	222531	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Schinzel-Giedion syndrome
Orphanet:79373	Orphanet:798	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	222532	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Schinzel-Giedion syndrome
Orphanet:93547	Orphanet:798	\N	"" []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	222533	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Schinzel-Giedion syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	578798	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Schinzel-Giedion syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	578799	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Schinzel-Giedion syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	578800	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Schinzel-Giedion syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	578801	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Schinzel-Giedion syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	578802	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Schinzel-Giedion syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	1162389	\N	\N	EFO	3	EFO	genetic disorder	Schinzel-Giedion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	1162390	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Schinzel-Giedion syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	1162391	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Schinzel-Giedion syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	1162392	\N	\N	EFO	3	EFO	Rare genetic skin disease	Schinzel-Giedion syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	1162393	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Schinzel-Giedion syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	1162394	\N	\N	EFO	3	EFO	Rare genetic renal disease	Schinzel-Giedion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	3196092	\N	\N	EFO	5	EFO	disease	Schinzel-Giedion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	2046006	\N	\N	EFO	4	EFO	genetic disorder	Schinzel-Giedion syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	2046007	\N	\N	EFO	4	EFO	genetic disorder	Schinzel-Giedion syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	2046008	\N	\N	EFO	4	EFO	skin disease	Schinzel-Giedion syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	2046009	\N	\N	EFO	4	EFO	genetic disorder	Schinzel-Giedion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	4134352	\N	\N	EFO	6	EFO	disposition	Schinzel-Giedion syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	3196093	\N	\N	EFO	5	EFO	disease	Schinzel-Giedion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	5183359	\N	\N	EFO	7	EFO	material property	Schinzel-Giedion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:798	"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." []	5998700	\N	\N	EFO	8	EFO	experimental factor	Schinzel-Giedion syndrome
Orphanet:799	\N	\N	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	78085	\N	\N	EFO	0	EFO	Schizencephaly	Schizencephaly
Orphanet:166478	Orphanet:799	\N	"" []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	222534	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Schizencephaly
Orphanet:269190	Orphanet:799	\N	"" []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	222535	\N	\N	EFO	1	EFO	Encephaloclastic disorder	Schizencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	578803	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Schizencephaly
Orphanet:269553	Orphanet:269190	\N	"" []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	578804	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Schizencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	1162395	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Schizencephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	1162396	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Schizencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	4401833	\N	\N	EFO	6	EFO	genetic disorder	Schizencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	2046011	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Schizencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	5060263	\N	\N	EFO	7	EFO	disease	Schizencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	3196095	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Schizencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	3196096	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Schizencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	5877752	\N	\N	EFO	8	EFO	disposition	Schizencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	4401832	\N	\N	EFO	6	EFO	genetic disorder	Schizencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	6470972	\N	\N	EFO	9	EFO	material property	Schizencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:799	"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." []	6848818	\N	\N	EFO	10	EFO	experimental factor	Schizencephaly
Orphanet:8	\N	\N	"" []	Orphanet:8	"" []	78086	\N	\N	EFO	0	EFO	47,XYY syndrome	47,XYY syndrome
Orphanet:263746	Orphanet:8	\N	"" []	Orphanet:8	"" []	222536	\N	\N	EFO	1	EFO	Y chromosome number anomaly	47,XYY syndrome
Orphanet:98156	Orphanet:263746	\N	"" []	Orphanet:8	"" []	578805	\N	\N	EFO	2	EFO	Gonosome number anomaly	47,XYY syndrome
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:8	"" []	1162397	\N	\N	EFO	3	EFO	Gonosome anomaly	47,XYY syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:8	"" []	2046012	\N	\N	EFO	4	EFO	Chromosomal anomaly	47,XYY syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:8	"" []	3196097	\N	\N	EFO	5	EFO	genetic disorder	47,XYY syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:8	"" []	4401834	\N	\N	EFO	6	EFO	disease	47,XYY syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:8	"" []	5418046	\N	\N	EFO	7	EFO	disposition	47,XYY syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:8	"" []	6152773	\N	\N	EFO	8	EFO	material property	47,XYY syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:8	"" []	6634170	\N	\N	EFO	9	EFO	experimental factor	47,XYY syndrome
Orphanet:800	\N	\N	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	78087	\N	\N	EFO	0	EFO	Schwartz-Jampel syndrome	Schwartz-Jampel syndrome
Orphanet:206644	Orphanet:800	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	222537	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	Schwartz-Jampel syndrome
Orphanet:206973	Orphanet:800	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	222538	\N	\N	EFO	1	EFO	Congenital myotonia	Schwartz-Jampel syndrome
Orphanet:207101	Orphanet:800	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	222539	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of perlecan	Schwartz-Jampel syndrome
Orphanet:253	Orphanet:800	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	222540	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Schwartz-Jampel syndrome
Orphanet:93424	Orphanet:800	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	222541	\N	\N	EFO	1	EFO	Perlecan-related bone disorder	Schwartz-Jampel syndrome
Orphanet:98620	Orphanet:800	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	222542	\N	\N	EFO	1	EFO	Syndromic myopia	Schwartz-Jampel syndrome
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	578806	\N	\N	EFO	2	EFO	Muscular dystrophy	Schwartz-Jampel syndrome
Orphanet:206970	Orphanet:206973	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	578807	\N	\N	EFO	2	EFO	Myotonic syndrome	Schwartz-Jampel syndrome
Orphanet:207049	Orphanet:207101	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	578808	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Schwartz-Jampel syndrome
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	578809	\N	\N	EFO	2	EFO	Primary bone dysplasia	Schwartz-Jampel syndrome
Orphanet:364803	Orphanet:93424	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	578810	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Schwartz-Jampel syndrome
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	578811	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	Schwartz-Jampel syndrome
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	1162398	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Schwartz-Jampel syndrome
Orphanet:206634	Orphanet:206970	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	1162399	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Schwartz-Jampel syndrome
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	1162400	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Schwartz-Jampel syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	1162401	\N	\N	EFO	3	EFO	Rare genetic bone disease	Schwartz-Jampel syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	1162402	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Schwartz-Jampel syndrome
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	1162403	\N	\N	EFO	3	EFO	Rare genetic bone disease	Schwartz-Jampel syndrome
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	1162404	\N	\N	EFO	3	EFO	Rare genetic eye disease	Schwartz-Jampel syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	2046013	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Schwartz-Jampel syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	3196098	\N	\N	EFO	5	EFO	muscular disease	Schwartz-Jampel syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	3196099	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Schwartz-Jampel syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	2046016	\N	\N	EFO	4	EFO	genetic disorder	Schwartz-Jampel syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	2046017	\N	\N	EFO	4	EFO	bone disease	Schwartz-Jampel syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	2046018	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Schwartz-Jampel syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	2046019	\N	\N	EFO	4	EFO	genetic disorder	Schwartz-Jampel syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	2046020	\N	\N	EFO	4	EFO	eye disease	Schwartz-Jampel syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	4134353	\N	\N	EFO	6	EFO	skeletal system disease	Schwartz-Jampel syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	4134354	\N	\N	EFO	6	EFO	genetic disorder	Schwartz-Jampel syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	5183361	\N	\N	EFO	7	EFO	disease	Schwartz-Jampel syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	3196103	\N	\N	EFO	5	EFO	skeletal system disease	Schwartz-Jampel syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	3196104	\N	\N	EFO	5	EFO	genetic disorder	Schwartz-Jampel syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	3196105	\N	\N	EFO	5	EFO	disease	Schwartz-Jampel syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	5183360	\N	\N	EFO	7	EFO	disease	Schwartz-Jampel syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	5877753	\N	\N	EFO	8	EFO	disposition	Schwartz-Jampel syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	6470973	\N	\N	EFO	9	EFO	material property	Schwartz-Jampel syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:800	"SchwartzJampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:SchwartzJampel_syndrome]" []	6848819	\N	\N	EFO	10	EFO	experimental factor	Schwartz-Jampel syndrome
Orphanet:805	\N	\N	"" []	Orphanet:805	"" []	78088	\N	\N	EFO	0	EFO	Tuberous sclerosis	Tuberous sclerosis
EFO:0003865	Orphanet:805	\N	"Tumors or cancers of the KIDNEY." []	Orphanet:805	"" []	222543	\N	\N	EFO	1	EFO	kidney neoplasm	Tuberous sclerosis
EFO:0004198	Orphanet:805	\N	"Tumors or cancer of the SKIN." []	Orphanet:805	"" []	222544	\N	\N	EFO	1	EFO	skin neoplasm	Tuberous sclerosis
Orphanet:166466	Orphanet:805	\N	"" []	Orphanet:805	"" []	222545	\N	\N	EFO	1	EFO	Neurocutaneous syndrome with epilepsy	Tuberous sclerosis
Orphanet:180772	Orphanet:805	\N	"" []	Orphanet:805	"" []	222546	\N	\N	EFO	1	EFO	Rare disease with autism	Tuberous sclerosis
Orphanet:183422	Orphanet:805	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:805	"" []	222547	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Tuberous sclerosis
Orphanet:183481	Orphanet:805	\N	"" []	Orphanet:805	"" []	222548	\N	\N	EFO	1	EFO	Genetic mixed dermis disorder	Tuberous sclerosis
Orphanet:183595	Orphanet:805	\N	"" []	Orphanet:805	"" []	222549	\N	\N	EFO	1	EFO	Genetic renal tumor	Tuberous sclerosis
Orphanet:183763	Orphanet:805	\N	"" []	Orphanet:805	"" []	222550	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Tuberous sclerosis
Orphanet:319328	Orphanet:805	\N	"" []	Orphanet:805	"" []	222551	\N	\N	EFO	1	EFO	Inherited renal cancer-predisposing syndrome	Tuberous sclerosis
Orphanet:89832	Orphanet:805	\N	"" []	Orphanet:805	"" []	222552	\N	\N	EFO	1	EFO	Syndromic lymphedema	Tuberous sclerosis
Orphanet:93587	Orphanet:805	\N	"" []	Orphanet:805	"" []	222553	\N	\N	EFO	1	EFO	Familial cystic renal disease	Tuberous sclerosis
Orphanet:98196	Orphanet:805	\N	"" []	Orphanet:805	"" []	222554	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Tuberous sclerosis
Orphanet:98601	Orphanet:805	\N	"" []	Orphanet:805	"" []	222555	\N	\N	EFO	1	EFO	Eyebrow/eyelashes pigmentation anomaly	Tuberous sclerosis
Orphanet:98701	Orphanet:805	\N	"" []	Orphanet:805	"" []	222556	\N	\N	EFO	1	EFO	Phakomatosis with eye involvement	Tuberous sclerosis
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	Orphanet:805	"" []	578812	\N	\N	EFO	2	EFO	kidney disease	Tuberous sclerosis
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:805	"" []	578813	\N	\N	EFO	2	EFO	urogenital neoplasm	Tuberous sclerosis
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:805	"" []	578814	\N	\N	EFO	2	EFO	neoplasm	Tuberous sclerosis
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:805	"" []	578815	\N	\N	EFO	2	EFO	skin disease	Tuberous sclerosis
Orphanet:183512	Orphanet:166466	\N	"" []	Orphanet:805	"" []	578816	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Tuberous sclerosis
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:805	"" []	578817	\N	\N	EFO	2	EFO	Rare pervasive developmental disorder	Tuberous sclerosis
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:805	"" []	578818	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Tuberous sclerosis
Orphanet:183472	Orphanet:183481	\N	"" []	Orphanet:805	"" []	578819	\N	\N	EFO	2	EFO	Genetic dermis disorder	Tuberous sclerosis
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:805	"" []	578820	\N	\N	EFO	2	EFO	urogenital neoplasm	Tuberous sclerosis
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:805	"" []	578821	\N	\N	EFO	2	EFO	Rare genetic tumor	Tuberous sclerosis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:805	"" []	578822	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Tuberous sclerosis
Orphanet:140162	Orphanet:319328	\N	"" []	Orphanet:805	"" []	578823	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Tuberous sclerosis
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:805	"" []	578824	\N	\N	EFO	2	EFO	Lymphedema	Tuberous sclerosis
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:805	"" []	578825	\N	\N	EFO	2	EFO	kidney disease	Tuberous sclerosis
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:805	"" []	578826	\N	\N	EFO	2	EFO	Rare genetic renal disease	Tuberous sclerosis
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:805	"" []	578827	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Tuberous sclerosis
Orphanet:98594	Orphanet:98601	\N	"" []	Orphanet:805	"" []	578828	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Tuberous sclerosis
Orphanet:98696	Orphanet:98701	\N	"" []	Orphanet:805	"" []	578829	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Tuberous sclerosis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:805	"" []	1162405	\N	\N	EFO	3	EFO	disease	Tuberous sclerosis
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:805	"" []	1162406	\N	\N	EFO	3	EFO	neoplasm	Tuberous sclerosis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:805	"" []	2046022	\N	\N	EFO	4	EFO	disease	Tuberous sclerosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:805	"" []	3196108	\N	\N	EFO	5	EFO	disease	Tuberous sclerosis
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:805	"" []	1162409	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Tuberous sclerosis
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:805	"" []	1162410	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Tuberous sclerosis
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:805	"" []	1162411	\N	\N	EFO	3	EFO	genetic disorder	Tuberous sclerosis
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:805	"" []	1162412	\N	\N	EFO	3	EFO	Rare genetic skin disease	Tuberous sclerosis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:805	"" []	1162413	\N	\N	EFO	3	EFO	genetic disorder	Tuberous sclerosis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:805	"" []	1162414	\N	\N	EFO	3	EFO	neoplasm	Tuberous sclerosis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:805	"" []	1162415	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Tuberous sclerosis
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:805	"" []	1162416	\N	\N	EFO	3	EFO	Rare genetic skin disease	Tuberous sclerosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:805	"" []	1162417	\N	\N	EFO	3	EFO	genetic disorder	Tuberous sclerosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:805	"" []	1162418	\N	\N	EFO	3	EFO	genetic disorder	Tuberous sclerosis
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:805	"" []	1162419	\N	\N	EFO	3	EFO	Rare palpebral disease	Tuberous sclerosis
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:805	"" []	1162420	\N	\N	EFO	3	EFO	Rare genetic eye disease	Tuberous sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:805	"" []	5817864	\N	\N	EFO	8	EFO	disposition	Tuberous sclerosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:805	"" []	2046023	\N	\N	EFO	4	EFO	genetic disorder	Tuberous sclerosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:805	"" []	5060265	\N	\N	EFO	7	EFO	disease	Tuberous sclerosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:805	"" []	2046025	\N	\N	EFO	4	EFO	genetic disorder	Tuberous sclerosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:805	"" []	2046026	\N	\N	EFO	4	EFO	skin disease	Tuberous sclerosis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:805	"" []	2046027	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Tuberous sclerosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:805	"" []	4401839	\N	\N	EFO	6	EFO	genetic disorder	Tuberous sclerosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:805	"" []	4401840	\N	\N	EFO	6	EFO	eye disease	Tuberous sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:805	"" []	6378992	\N	\N	EFO	9	EFO	material property	Tuberous sclerosis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:805	"" []	3196109	\N	\N	EFO	5	EFO	Rare genetic eye disease	Tuberous sclerosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:805	"" []	5060266	\N	\N	EFO	7	EFO	disease	Tuberous sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:805	"" []	6778828	\N	\N	EFO	10	EFO	experimental factor	Tuberous sclerosis
Orphanet:806	\N	\N	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	Orphanet:806	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	78089	\N	\N	EFO	0	EFO	Scott syndrome	Scott syndrome
Orphanet:275736	Orphanet:806	\N	"" []	Orphanet:806	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	222557	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a platelet receptor defect	Scott syndrome
Orphanet:71202	Orphanet:275736	\N	"" []	Orphanet:806	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	578830	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Scott syndrome
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:806	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	1162421	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Scott syndrome
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:806	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	2046030	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Scott syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:806	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	3196111	\N	\N	EFO	5	EFO	genetic disorder	Scott syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:806	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	3196112	\N	\N	EFO	5	EFO	hematological system disease	Scott syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:806	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	4401841	\N	\N	EFO	6	EFO	disease	Scott syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:806	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	4401842	\N	\N	EFO	6	EFO	disease	Scott syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:806	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	5418048	\N	\N	EFO	7	EFO	disposition	Scott syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:806	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	6152775	\N	\N	EFO	8	EFO	material property	Scott syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:806	"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." []	6634171	\N	\N	EFO	9	EFO	experimental factor	Scott syndrome
Orphanet:808	\N	\N	"" []	Orphanet:808	"" []	78090	\N	\N	EFO	0	EFO	Seckel syndrome	Seckel syndrome
Orphanet:324761	Orphanet:808	\N	"" []	Orphanet:808	"" []	222558	\N	\N	EFO	1	EFO	Microcephalic primordial dwarfism	Seckel syndrome
Orphanet:102283	Orphanet:324761	\N	"" []	Orphanet:808	"" []	578831	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Seckel syndrome
Orphanet:183763	Orphanet:324761	\N	"" []	Orphanet:808	"" []	578832	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Seckel syndrome
Orphanet:269528	Orphanet:324761	\N	"" []	Orphanet:808	"" []	578833	\N	\N	EFO	2	EFO	Syndrome with microcephaly as major feature	Seckel syndrome
Orphanet:93440	Orphanet:324761	\N	"" []	Orphanet:808	"" []	578834	\N	\N	EFO	2	EFO	Slender bone dysplasia	Seckel syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:808	"" []	1162422	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Seckel syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:808	"" []	1162423	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Seckel syndrome
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:808	"" []	1162424	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Seckel syndrome
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:808	"" []	1162425	\N	\N	EFO	3	EFO	Primary bone dysplasia	Seckel syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:808	"" []	2046031	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Seckel syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:808	"" []	2046032	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Seckel syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:808	"" []	2046033	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Seckel syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:808	"" []	2046034	\N	\N	EFO	4	EFO	Rare genetic bone disease	Seckel syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:808	"" []	2046035	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Seckel syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:808	"" []	4401844	\N	\N	EFO	6	EFO	genetic disorder	Seckel syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:808	"" []	4401845	\N	\N	EFO	6	EFO	genetic disorder	Seckel syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:808	"" []	3196115	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Seckel syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:808	"" []	3196116	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Seckel syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:808	"" []	3196117	\N	\N	EFO	5	EFO	genetic disorder	Seckel syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:808	"" []	3196118	\N	\N	EFO	5	EFO	bone disease	Seckel syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:808	"" []	3196119	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Seckel syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:808	"" []	5183364	\N	\N	EFO	7	EFO	disease	Seckel syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:808	"" []	4401846	\N	\N	EFO	6	EFO	skeletal system disease	Seckel syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:808	"" []	5998702	\N	\N	EFO	8	EFO	disposition	Seckel syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:808	"" []	5418050	\N	\N	EFO	7	EFO	disease	Seckel syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:808	"" []	6551759	\N	\N	EFO	9	EFO	material property	Seckel syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:808	"" []	6889543	\N	\N	EFO	10	EFO	experimental factor	Seckel syndrome
Orphanet:811	\N	\N	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	78091	\N	\N	EFO	0	EFO	Shwachman-Diamond syndrome	Shwachman-Diamond syndrome
Orphanet:165661	Orphanet:811	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	222559	\N	\N	EFO	1	EFO	Genetic pancreatic disease	Shwachman-Diamond syndrome
Orphanet:183422	Orphanet:811	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	222560	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Shwachman-Diamond syndrome
Orphanet:183681	Orphanet:811	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	222561	\N	\N	EFO	1	EFO	Functional neutrophil defect	Shwachman-Diamond syndrome
Orphanet:68383	Orphanet:811	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	222562	\N	\N	EFO	1	EFO	Rare constitutional medullar aplasia	Shwachman-Diamond syndrome
Orphanet:93430	Orphanet:811	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	222563	\N	\N	EFO	1	EFO	Multiple metaphyseal dysplasia	Shwachman-Diamond syndrome
EFO:0001379	Orphanet:165661	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	578835	\N	\N	EFO	2	EFO	endocrine system disease	Shwachman-Diamond syndrome
Orphanet:165652	Orphanet:165661	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	578836	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Shwachman-Diamond syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	578837	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Shwachman-Diamond syndrome
Orphanet:101988	Orphanet:183681	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	578838	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Shwachman-Diamond syndrome
Orphanet:182040	Orphanet:68383	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	578839	\N	\N	EFO	2	EFO	Medullar aplasia	Shwachman-Diamond syndrome
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	578840	\N	\N	EFO	2	EFO	Primary bone dysplasia	Shwachman-Diamond syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	1162426	\N	\N	EFO	3	EFO	disease	Shwachman-Diamond syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	1162427	\N	\N	EFO	3	EFO	genetic disorder	Shwachman-Diamond syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	1162428	\N	\N	EFO	3	EFO	genetic disorder	Shwachman-Diamond syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	1162429	\N	\N	EFO	3	EFO	Primary immunodeficiency	Shwachman-Diamond syndrome
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	1162430	\N	\N	EFO	3	EFO	Rare constitutional anemia	Shwachman-Diamond syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	1162431	\N	\N	EFO	3	EFO	Rare genetic bone disease	Shwachman-Diamond syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	1162432	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Shwachman-Diamond syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	5060268	\N	\N	EFO	7	EFO	disposition	Shwachman-Diamond syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	4401848	\N	\N	EFO	6	EFO	disease	Shwachman-Diamond syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	2046038	\N	\N	EFO	4	EFO	Rare genetic immune disease	Shwachman-Diamond syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	2046039	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Shwachman-Diamond syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	2046040	\N	\N	EFO	4	EFO	genetic disorder	Shwachman-Diamond syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	2046041	\N	\N	EFO	4	EFO	bone disease	Shwachman-Diamond syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	2046042	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Shwachman-Diamond syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	5817865	\N	\N	EFO	8	EFO	material property	Shwachman-Diamond syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	3196122	\N	\N	EFO	5	EFO	genetic disorder	Shwachman-Diamond syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	3196123	\N	\N	EFO	5	EFO	immune system disease	Shwachman-Diamond syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	3196124	\N	\N	EFO	5	EFO	genetic disorder	Shwachman-Diamond syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	3196125	\N	\N	EFO	5	EFO	hematological system disease	Shwachman-Diamond syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	3196127	\N	\N	EFO	5	EFO	skeletal system disease	Shwachman-Diamond syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	3196128	\N	\N	EFO	5	EFO	genetic disorder	Shwachman-Diamond syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	6410365	\N	\N	EFO	9	EFO	experimental factor	Shwachman-Diamond syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	4401849	\N	\N	EFO	6	EFO	disease	Shwachman-Diamond syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	4401850	\N	\N	EFO	6	EFO	disease	Shwachman-Diamond syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:811	"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." []	4401851	\N	\N	EFO	6	EFO	disease	Shwachman-Diamond syndrome
Orphanet:812	\N	\N	"" []	Orphanet:812	"" []	78092	\N	\N	EFO	0	EFO	Sialidosis type 1	Sialidosis type 1
Orphanet:309294	Orphanet:812	\N	"" []	Orphanet:812	"" []	222564	\N	\N	EFO	1	EFO	Sialidosis	Sialidosis type 1
Orphanet:68385	Orphanet:812	\N	"" []	Orphanet:812	"" []	222565	\N	\N	EFO	1	EFO	Neurometabolic disease	Sialidosis type 1
Orphanet:98714	Orphanet:812	\N	"" []	Orphanet:812	"" []	222566	\N	\N	EFO	1	EFO	Metabolic disease with macular cherry-red spot	Sialidosis type 1
Orphanet:79215	Orphanet:309294	\N	"" []	Orphanet:812	"" []	578841	\N	\N	EFO	2	EFO	Oligosaccharidosis	Sialidosis type 1
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:812	"" []	578842	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Sialidosis type 1
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:812	"" []	578843	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Sialidosis type 1
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:812	"" []	1162433	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Sialidosis type 1
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:812	"" []	1162434	\N	\N	EFO	3	EFO	Glycoproteinosis	Sialidosis type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:812	"" []	1162435	\N	\N	EFO	3	EFO	genetic disorder	Sialidosis type 1
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:812	"" []	1162436	\N	\N	EFO	3	EFO	Rare genetic eye disease	Sialidosis type 1
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:812	"" []	2046043	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sialidosis type 1
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:812	"" []	2046044	\N	\N	EFO	4	EFO	Lysosomal disease	Sialidosis type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:812	"" []	5418051	\N	\N	EFO	7	EFO	disease	Sialidosis type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:812	"" []	2046046	\N	\N	EFO	4	EFO	genetic disorder	Sialidosis type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:812	"" []	2046047	\N	\N	EFO	4	EFO	eye disease	Sialidosis type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:812	"" []	3196129	\N	\N	EFO	5	EFO	genetic disorder	Sialidosis type 1
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:812	"" []	3196130	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Sialidosis type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:812	"" []	5817866	\N	\N	EFO	8	EFO	disposition	Sialidosis type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:812	"" []	3196133	\N	\N	EFO	5	EFO	disease	Sialidosis type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:812	"" []	4401853	\N	\N	EFO	6	EFO	genetic disorder	Sialidosis type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:812	"" []	4401854	\N	\N	EFO	6	EFO	metabolic disease	Sialidosis type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:812	"" []	6410366	\N	\N	EFO	9	EFO	material property	Sialidosis type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:812	"" []	5418052	\N	\N	EFO	7	EFO	disease	Sialidosis type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:812	"" []	6808176	\N	\N	EFO	10	EFO	experimental factor	Sialidosis type 1
Orphanet:813	\N	\N	"" []	Orphanet:813	"" []	78093	\N	\N	EFO	0	EFO	Silver-Russell syndrome	Silver-Russell syndrome
Orphanet:183422	Orphanet:813	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:813	"" []	222567	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Silver-Russell syndrome
Orphanet:183570	Orphanet:813	\N	"" []	Orphanet:813	"" []	222568	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Silver-Russell syndrome
Orphanet:330197	Orphanet:813	\N	"" []	Orphanet:813	"" []	222569	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Silver-Russell syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:813	"" []	578844	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Silver-Russell syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:813	"" []	578845	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:813	"" []	578846	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Silver-Russell syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:813	"" []	1162437	\N	\N	EFO	3	EFO	genetic disorder	Silver-Russell syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:813	"" []	2046049	\N	\N	EFO	4	EFO	genetic disorder	Silver-Russell syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:813	"" []	1162439	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:813	"" []	3000451	\N	\N	EFO	5	EFO	disease	Silver-Russell syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:813	"" []	4134359	\N	\N	EFO	6	EFO	disposition	Silver-Russell syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:813	"" []	5183367	\N	\N	EFO	7	EFO	material property	Silver-Russell syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:813	"" []	5998704	\N	\N	EFO	8	EFO	experimental factor	Silver-Russell syndrome
Orphanet:816	\N	\N	"" []	Orphanet:816	"" []	78094	\N	\N	EFO	0	EFO	Sjgren-Larsson syndrome	Sjgren-Larsson syndrome
Orphanet:281238	Orphanet:816	\N	"" []	Orphanet:816	"" []	222570	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with prominent neurologics signs	Sjgren-Larsson syndrome
Orphanet:352306	Orphanet:816	\N	"" []	Orphanet:816	"" []	222571	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Sjgren-Larsson syndrome
Orphanet:68385	Orphanet:816	\N	"" []	Orphanet:816	"" []	222572	\N	\N	EFO	1	EFO	Neurometabolic disease	Sjgren-Larsson syndrome
Orphanet:98666	Orphanet:816	\N	"" []	Orphanet:816	"" []	222573	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Sjgren-Larsson syndrome
Orphanet:98699	Orphanet:816	\N	"" []	Orphanet:816	"" []	222574	\N	\N	EFO	1	EFO	Syndromic ichthyosis associated with ocular features	Sjgren-Larsson syndrome
Orphanet:98712	Orphanet:816	\N	"" []	Orphanet:816	"" []	222575	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Sjgren-Larsson syndrome
Orphanet:98713	Orphanet:816	\N	"" []	Orphanet:816	"" []	222576	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Sjgren-Larsson syndrome
Orphanet:281217	Orphanet:281238	\N	"" []	Orphanet:816	"" []	578847	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Sjgren-Larsson syndrome
Orphanet:352301	Orphanet:352306	\N	"" []	Orphanet:816	"" []	578848	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Sjgren-Larsson syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:816	"" []	578849	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Sjgren-Larsson syndrome
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:816	"" []	578850	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Sjgren-Larsson syndrome
Orphanet:98697	Orphanet:98699	\N	"" []	Orphanet:816	"" []	578851	\N	\N	EFO	2	EFO	Genetic keratinization disorder associated with ocular features	Sjgren-Larsson syndrome
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:816	"" []	578852	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Sjgren-Larsson syndrome
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:816	"" []	578853	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Sjgren-Larsson syndrome
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:816	"" []	1162440	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Sjgren-Larsson syndrome
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:816	"" []	1162441	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Sjgren-Larsson syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:816	"" []	1162442	\N	\N	EFO	3	EFO	genetic disorder	Sjgren-Larsson syndrome
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:816	"" []	1162443	\N	\N	EFO	3	EFO	Retinal dystrophy	Sjgren-Larsson syndrome
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:816	"" []	1162444	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Sjgren-Larsson syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:816	"" []	1162445	\N	\N	EFO	3	EFO	Rare genetic eye disease	Sjgren-Larsson syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:816	"" []	2046050	\N	\N	EFO	4	EFO	Inherited ichthyosis	Sjgren-Larsson syndrome
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:816	"" []	2046051	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Sjgren-Larsson syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:816	"" []	6152777	\N	\N	EFO	8	EFO	disease	Sjgren-Larsson syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:816	"" []	2046053	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Sjgren-Larsson syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:816	"" []	2046054	\N	\N	EFO	4	EFO	Rare genetic eye disease	Sjgren-Larsson syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:816	"" []	4401860	\N	\N	EFO	6	EFO	genetic disorder	Sjgren-Larsson syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:816	"" []	4401861	\N	\N	EFO	6	EFO	eye disease	Sjgren-Larsson syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:816	"" []	3196135	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Sjgren-Larsson syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:816	"" []	3196136	\N	\N	EFO	5	EFO	genetic disorder	Sjgren-Larsson syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:816	"" []	3196137	\N	\N	EFO	5	EFO	metabolic disease	Sjgren-Larsson syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:816	"" []	6378993	\N	\N	EFO	9	EFO	disposition	Sjgren-Larsson syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:816	"" []	3196139	\N	\N	EFO	5	EFO	Rare genetic eye disease	Sjgren-Larsson syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:816	"" []	5060272	\N	\N	EFO	7	EFO	disease	Sjgren-Larsson syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:816	"" []	4401857	\N	\N	EFO	6	EFO	Rare genetic skin disease	Sjgren-Larsson syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:816	"" []	4401858	\N	\N	EFO	6	EFO	disease	Sjgren-Larsson syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:816	"" []	6778829	\N	\N	EFO	10	EFO	material property	Sjgren-Larsson syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:816	"" []	5418055	\N	\N	EFO	7	EFO	genetic disorder	Sjgren-Larsson syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:816	"" []	5418056	\N	\N	EFO	7	EFO	skin disease	Sjgren-Larsson syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:816	"" []	7030019	\N	\N	EFO	11	EFO	experimental factor	Sjgren-Larsson syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:816	"" []	6152778	\N	\N	EFO	8	EFO	disease	Sjgren-Larsson syndrome
Orphanet:817	\N	\N	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	Orphanet:817	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	78095	\N	\N	EFO	0	EFO	Peeling skin syndrome	Peeling skin syndrome
Orphanet:281082	Orphanet:817	\N	"" []	Orphanet:817	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	222577	\N	\N	EFO	1	EFO	Inherited non-syndromic ichthyosis	Peeling skin syndrome
Orphanet:183435	Orphanet:281082	\N	"" []	Orphanet:817	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	578854	\N	\N	EFO	2	EFO	Inherited ichthyosis	Peeling skin syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:817	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	1162446	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Peeling skin syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:817	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	2046057	\N	\N	EFO	4	EFO	Rare genetic skin disease	Peeling skin syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:817	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	3196144	\N	\N	EFO	5	EFO	genetic disorder	Peeling skin syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:817	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	3196145	\N	\N	EFO	5	EFO	skin disease	Peeling skin syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:817	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	4401862	\N	\N	EFO	6	EFO	disease	Peeling skin syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:817	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	4401863	\N	\N	EFO	6	EFO	disease	Peeling skin syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:817	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	5418058	\N	\N	EFO	7	EFO	disposition	Peeling skin syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:817	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	6152779	\N	\N	EFO	8	EFO	material property	Peeling skin syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:817	"Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." []	6634173	\N	\N	EFO	9	EFO	experimental factor	Peeling skin syndrome
Orphanet:818	\N	\N	"" []	Orphanet:818	"" []	78096	\N	\N	EFO	0	EFO	Smith-Lemli-Opitz syndrome	Smith-Lemli-Opitz syndrome
Orphanet:102283	Orphanet:818	\N	"" []	Orphanet:818	"" []	222578	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Smith-Lemli-Opitz syndrome
Orphanet:108987	Orphanet:818	\N	"" []	Orphanet:818	"" []	222579	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Smith-Lemli-Opitz syndrome
Orphanet:138063	Orphanet:818	\N	"" []	Orphanet:818	"" []	222580	\N	\N	EFO	1	EFO	Syndrome associated with Pierre Robin syndrome	Smith-Lemli-Opitz syndrome
Orphanet:182073	Orphanet:818	\N	"" []	Orphanet:818	"" []	222581	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Smith-Lemli-Opitz syndrome
Orphanet:183570	Orphanet:818	\N	"" []	Orphanet:818	"" []	222582	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Smith-Lemli-Opitz syndrome
Orphanet:294959	Orphanet:818	\N	"" []	Orphanet:818	"" []	222583	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Smith-Lemli-Opitz syndrome
Orphanet:325511	Orphanet:818	\N	"" []	Orphanet:818	"" []	222584	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to cholesterol synthesis defect	Smith-Lemli-Opitz syndrome
Orphanet:79195	Orphanet:818	\N	"" []	Orphanet:818	"" []	222585	\N	\N	EFO	1	EFO	Sterol biosynthesis disorder	Smith-Lemli-Opitz syndrome
Orphanet:93547	Orphanet:818	\N	"" []	Orphanet:818	"" []	222586	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Smith-Lemli-Opitz syndrome
Orphanet:98574	Orphanet:818	\N	"" []	Orphanet:818	"" []	222587	\N	\N	EFO	1	EFO	Syndromic epicanthus	Smith-Lemli-Opitz syndrome
Orphanet:98578	Orphanet:818	\N	"" []	Orphanet:818	"" []	222588	\N	\N	EFO	1	EFO	Ptosis	Smith-Lemli-Opitz syndrome
Orphanet:98650	Orphanet:818	\N	"" []	Orphanet:818	"" []	222589	\N	\N	EFO	1	EFO	Craniofacial anomaly with cataract	Smith-Lemli-Opitz syndrome
Orphanet:98712	Orphanet:818	\N	"" []	Orphanet:818	"" []	222590	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Smith-Lemli-Opitz syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:818	"" []	578855	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Smith-Lemli-Opitz syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:818	"" []	578856	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Smith-Lemli-Opitz syndrome
Orphanet:363294	Orphanet:138063	\N	"" []	Orphanet:818	"" []	578857	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Smith-Lemli-Opitz syndrome
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:818	"" []	578858	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Smith-Lemli-Opitz syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:818	"" []	578859	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Smith-Lemli-Opitz syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:818	"" []	578860	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Smith-Lemli-Opitz syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:818	"" []	578861	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Smith-Lemli-Opitz syndrome
Orphanet:90783	Orphanet:325511	\N	"" []	Orphanet:818	"" []	578862	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to testosterone synthesis defect	Smith-Lemli-Opitz syndrome
Orphanet:139009	Orphanet:79195	\N	"" []	Orphanet:818	"" []	578863	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Smith-Lemli-Opitz syndrome
Orphanet:79226	Orphanet:79195	\N	"" []	Orphanet:818	"" []	578864	\N	\N	EFO	2	EFO	Sterol metabolism disorder	Smith-Lemli-Opitz syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:818	"" []	578865	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Smith-Lemli-Opitz syndrome
Orphanet:98573	Orphanet:98574	\N	"" []	Orphanet:818	"" []	578866	\N	\N	EFO	2	EFO	Epicanthal fold	Smith-Lemli-Opitz syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:818	"" []	578867	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Smith-Lemli-Opitz syndrome
Orphanet:98643	Orphanet:98650	\N	"" []	Orphanet:818	"" []	578868	\N	\N	EFO	2	EFO	Systemic disease with cataract	Smith-Lemli-Opitz syndrome
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:818	"" []	578869	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Smith-Lemli-Opitz syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:818	"" []	1162447	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Smith-Lemli-Opitz syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:818	"" []	1162448	\N	\N	EFO	3	EFO	Rare genetic eye disease	Smith-Lemli-Opitz syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:818	"" []	1162449	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Smith-Lemli-Opitz syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:818	"" []	1162450	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Smith-Lemli-Opitz syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:818	"" []	1162451	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Smith-Lemli-Opitz syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:818	"" []	6152783	\N	\N	EFO	8	EFO	genetic disorder	Smith-Lemli-Opitz syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:818	"" []	1162453	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Smith-Lemli-Opitz syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:818	"" []	1162454	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Smith-Lemli-Opitz syndrome
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:818	"" []	1162455	\N	\N	EFO	3	EFO	46,XY disorder of sex development due to impaired androgen production	Smith-Lemli-Opitz syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:818	"" []	1162456	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Smith-Lemli-Opitz syndrome
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:818	"" []	1162457	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Smith-Lemli-Opitz syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:818	"" []	1162458	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Smith-Lemli-Opitz syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:818	"" []	1162459	\N	\N	EFO	3	EFO	Rare genetic renal disease	Smith-Lemli-Opitz syndrome
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:818	"" []	1162460	\N	\N	EFO	3	EFO	Canthal anomaly	Smith-Lemli-Opitz syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:818	"" []	1162461	\N	\N	EFO	3	EFO	Rare palpebral disease	Smith-Lemli-Opitz syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:818	"" []	1162462	\N	\N	EFO	3	EFO	Syndromic cataract	Smith-Lemli-Opitz syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:818	"" []	1162463	\N	\N	EFO	3	EFO	Rare genetic eye disease	Smith-Lemli-Opitz syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:818	"" []	5183370	\N	\N	EFO	7	EFO	genetic disorder	Smith-Lemli-Opitz syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:818	"" []	5183371	\N	\N	EFO	7	EFO	eye disease	Smith-Lemli-Opitz syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:818	"" []	2046061	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Smith-Lemli-Opitz syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:818	"" []	2046062	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Smith-Lemli-Opitz syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:818	"" []	6370834	\N	\N	EFO	9	EFO	disease	Smith-Lemli-Opitz syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:818	"" []	2046064	\N	\N	EFO	4	EFO	Rare genetic bone disease	Smith-Lemli-Opitz syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:818	"" []	2046065	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Smith-Lemli-Opitz syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:818	"" []	2046066	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Smith-Lemli-Opitz syndrome
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:818	"" []	2046067	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Smith-Lemli-Opitz syndrome
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:818	"" []	2046068	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Smith-Lemli-Opitz syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:818	"" []	2046069	\N	\N	EFO	4	EFO	genetic disorder	Smith-Lemli-Opitz syndrome
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:818	"" []	2046070	\N	\N	EFO	4	EFO	Rare palpebral disease	Smith-Lemli-Opitz syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:818	"" []	3196157	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Smith-Lemli-Opitz syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:818	"" []	2046072	\N	\N	EFO	4	EFO	Rare cataract	Smith-Lemli-Opitz syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:818	"" []	5817868	\N	\N	EFO	8	EFO	disease	Smith-Lemli-Opitz syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:818	"" []	3196147	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Smith-Lemli-Opitz syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:818	"" []	3196148	\N	\N	EFO	5	EFO	genetic disorder	Smith-Lemli-Opitz syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:818	"" []	6762402	\N	\N	EFO	10	EFO	disposition	Smith-Lemli-Opitz syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:818	"" []	3196150	\N	\N	EFO	5	EFO	genetic disorder	Smith-Lemli-Opitz syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:818	"" []	3196151	\N	\N	EFO	5	EFO	bone disease	Smith-Lemli-Opitz syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:818	"" []	3196152	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Smith-Lemli-Opitz syndrome
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:818	"" []	3196154	\N	\N	EFO	5	EFO	Genetic 46,XY disorder of sex development	Smith-Lemli-Opitz syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:818	"" []	3196155	\N	\N	EFO	5	EFO	genetic disorder	Smith-Lemli-Opitz syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:818	"" []	3196156	\N	\N	EFO	5	EFO	metabolic disease	Smith-Lemli-Opitz syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:818	"" []	4134364	\N	\N	EFO	6	EFO	Rare genetic eye disease	Smith-Lemli-Opitz syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:818	"" []	3196159	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Smith-Lemli-Opitz syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:818	"" []	4401864	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Smith-Lemli-Opitz syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:818	"" []	7015715	\N	\N	EFO	11	EFO	material property	Smith-Lemli-Opitz syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:818	"" []	4401866	\N	\N	EFO	6	EFO	skeletal system disease	Smith-Lemli-Opitz syndrome
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:818	"" []	4401868	\N	\N	EFO	6	EFO	Genetic disorder of sex development	Smith-Lemli-Opitz syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:818	"" []	4401869	\N	\N	EFO	6	EFO	disease	Smith-Lemli-Opitz syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:818	"" []	4401872	\N	\N	EFO	6	EFO	Rare genetic eye disease	Smith-Lemli-Opitz syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:818	"" []	7173661	\N	\N	EFO	12	EFO	experimental factor	Smith-Lemli-Opitz syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:818	"" []	5418061	\N	\N	EFO	7	EFO	disease	Smith-Lemli-Opitz syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:818	"" []	5418062	\N	\N	EFO	7	EFO	Rare genetic urogenital disease	Smith-Lemli-Opitz syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:818	"" []	5418063	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Smith-Lemli-Opitz syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:818	"" []	5418064	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Smith-Lemli-Opitz syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:818	"" []	6152780	\N	\N	EFO	8	EFO	genetic disorder	Smith-Lemli-Opitz syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:818	"" []	6152781	\N	\N	EFO	8	EFO	genetic disorder	Smith-Lemli-Opitz syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:818	"" []	6152782	\N	\N	EFO	8	EFO	endocrine system disease	Smith-Lemli-Opitz syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:818	"" []	6634174	\N	\N	EFO	9	EFO	disease	Smith-Lemli-Opitz syndrome
Orphanet:819	\N	\N	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	78097	\N	\N	EFO	0	EFO	Smith-Magenis syndrome	Smith-Magenis syndrome
Orphanet:102283	Orphanet:819	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	222591	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Smith-Magenis syndrome
Orphanet:138063	Orphanet:819	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	222592	\N	\N	EFO	1	EFO	Syndrome associated with Pierre Robin syndrome	Smith-Magenis syndrome
Orphanet:180772	Orphanet:819	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	222593	\N	\N	EFO	1	EFO	Rare disease with autism	Smith-Magenis syndrome
Orphanet:183763	Orphanet:819	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	222594	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Smith-Magenis syndrome
Orphanet:261965	Orphanet:819	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	222595	\N	\N	EFO	1	EFO	Partial monosomy of the short arm of chromosome 17	Smith-Magenis syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	578870	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Smith-Magenis syndrome
Orphanet:363294	Orphanet:138063	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	578871	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Smith-Magenis syndrome
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	578872	\N	\N	EFO	2	EFO	Rare pervasive developmental disorder	Smith-Magenis syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	578873	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Smith-Magenis syndrome
Orphanet:261831	Orphanet:261965	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	578874	\N	\N	EFO	2	EFO	Partial deletion of chromosome 17	Smith-Magenis syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	1162464	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Smith-Magenis syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	1162465	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Smith-Magenis syndrome
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	1162466	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Smith-Magenis syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	1162467	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Smith-Magenis syndrome
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	1162468	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Smith-Magenis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	5418066	\N	\N	EFO	7	EFO	genetic disorder	Smith-Magenis syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	2046074	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Smith-Magenis syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	2046075	\N	\N	EFO	4	EFO	genetic disorder	Smith-Magenis syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	2046076	\N	\N	EFO	4	EFO	Autosomal monosomy	Smith-Magenis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	5817870	\N	\N	EFO	8	EFO	disease	Smith-Magenis syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	3196161	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Smith-Magenis syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	3196162	\N	\N	EFO	5	EFO	Autosomal anomaly	Smith-Magenis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	6410369	\N	\N	EFO	9	EFO	disposition	Smith-Magenis syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	4401874	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Smith-Magenis syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	4401875	\N	\N	EFO	6	EFO	Chromosomal anomaly	Smith-Magenis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	6808179	\N	\N	EFO	10	EFO	material property	Smith-Magenis syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	5418067	\N	\N	EFO	7	EFO	genetic disorder	Smith-Magenis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:819	"Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." []	7048808	\N	\N	EFO	11	EFO	experimental factor	Smith-Magenis syndrome
Orphanet:82	\N	\N	"" []	Orphanet:82	"" []	78098	\N	\N	EFO	0	EFO	Hereditary thrombophilia due to congenital antithrombin deficiency	Hereditary thrombophilia due to congenital antithrombin deficiency
Orphanet:217454	Orphanet:82	\N	"" []	Orphanet:82	"" []	222596	\N	\N	EFO	1	EFO	Rare hereditary thrombophilia	Hereditary thrombophilia due to congenital antithrombin deficiency
Orphanet:248361	Orphanet:217454	\N	"" []	Orphanet:82	"" []	578875	\N	\N	EFO	2	EFO	Rare thrombotic disorder due to a constitutional coagulation factors defect	Hereditary thrombophilia due to congenital antithrombin deficiency
Orphanet:399185	Orphanet:217454	\N	"" []	Orphanet:82	"" []	578876	\N	\N	EFO	2	EFO	Rare hereditary disease with avascular necrosis	Hereditary thrombophilia due to congenital antithrombin deficiency
Orphanet:183654	Orphanet:248361	\N	"" []	Orphanet:82	"" []	1162469	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Hereditary thrombophilia due to congenital antithrombin deficiency
Orphanet:399388	Orphanet:399185	\N	"" []	Orphanet:82	"" []	1162470	\N	\N	EFO	3	EFO	Avascular necrosis of genetic origin	Hereditary thrombophilia due to congenital antithrombin deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:82	"" []	2046077	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hereditary thrombophilia due to congenital antithrombin deficiency
Orphanet:399380	Orphanet:399388	\N	"" []	Orphanet:82	"" []	2046078	\N	\N	EFO	4	EFO	Osteonecrosis of genetic origin	Hereditary thrombophilia due to congenital antithrombin deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:82	"" []	3196163	\N	\N	EFO	5	EFO	genetic disorder	Hereditary thrombophilia due to congenital antithrombin deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:82	"" []	3196164	\N	\N	EFO	5	EFO	hematological system disease	Hereditary thrombophilia due to congenital antithrombin deficiency
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:82	"" []	3196165	\N	\N	EFO	5	EFO	Rare genetic bone disease	Hereditary thrombophilia due to congenital antithrombin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:82	"" []	5418069	\N	\N	EFO	7	EFO	disease	Hereditary thrombophilia due to congenital antithrombin deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:82	"" []	4401877	\N	\N	EFO	6	EFO	disease	Hereditary thrombophilia due to congenital antithrombin deficiency
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:82	"" []	4401878	\N	\N	EFO	6	EFO	genetic disorder	Hereditary thrombophilia due to congenital antithrombin deficiency
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:82	"" []	4401879	\N	\N	EFO	6	EFO	bone disease	Hereditary thrombophilia due to congenital antithrombin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:82	"" []	6634176	\N	\N	EFO	9	EFO	disposition	Hereditary thrombophilia due to congenital antithrombin deficiency
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:82	"" []	5418070	\N	\N	EFO	7	EFO	skeletal system disease	Hereditary thrombophilia due to congenital antithrombin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:82	"" []	6848820	\N	\N	EFO	10	EFO	material property	Hereditary thrombophilia due to congenital antithrombin deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:82	"" []	6152786	\N	\N	EFO	8	EFO	disease	Hereditary thrombophilia due to congenital antithrombin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:82	"" []	7068535	\N	\N	EFO	11	EFO	experimental factor	Hereditary thrombophilia due to congenital antithrombin deficiency
Orphanet:82004	\N	\N	"" []	Orphanet:82004	"" []	78099	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome with periventricular heterotopia	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:285014	Orphanet:82004	\N	"" []	Orphanet:82004	"" []	222597	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:98249	Orphanet:82004	\N	"" []	Orphanet:82004	"" []	222598	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:82004	"" []	578877	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:82004	"" []	578878	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:82004	"" []	578879	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:82004	"" []	578880	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:82004	"" []	578881	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome with periventricular heterotopia
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:82004	"" []	1162471	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome with periventricular heterotopia
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:82004	"" []	1162472	\N	\N	EFO	3	EFO	vascular disease	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:82004	"" []	1162473	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:82004	"" []	1162474	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:82004	"" []	1162475	\N	\N	EFO	3	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome with periventricular heterotopia
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:82004	"" []	1162476	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome with periventricular heterotopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:82004	"" []	4401881	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome with periventricular heterotopia
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:82004	"" []	2046080	\N	\N	EFO	4	EFO	cardiovascular disease	Ehlers-Danlos syndrome with periventricular heterotopia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:82004	"" []	2046081	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:82004	"" []	2046082	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome with periventricular heterotopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:82004	"" []	5060275	\N	\N	EFO	7	EFO	disposition	Ehlers-Danlos syndrome with periventricular heterotopia
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:82004	"" []	3196167	\N	\N	EFO	5	EFO	disease	Ehlers-Danlos syndrome with periventricular heterotopia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:82004	"" []	3196169	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome with periventricular heterotopia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:82004	"" []	3196170	\N	\N	EFO	5	EFO	skin disease	Ehlers-Danlos syndrome with periventricular heterotopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:82004	"" []	5877759	\N	\N	EFO	8	EFO	material property	Ehlers-Danlos syndrome with periventricular heterotopia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:82004	"" []	4401882	\N	\N	EFO	6	EFO	disease	Ehlers-Danlos syndrome with periventricular heterotopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:82004	"" []	6470977	\N	\N	EFO	9	EFO	experimental factor	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:821	\N	\N	"" []	Orphanet:821	"" []	78100	\N	\N	EFO	0	EFO	Sotos syndrome	Sotos syndrome
Orphanet:183422	Orphanet:821	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:821	"" []	222599	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Sotos syndrome
Orphanet:262038	Orphanet:821	\N	"" []	Orphanet:821	"" []	222600	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 5	Sotos syndrome
Orphanet:330197	Orphanet:821	\N	"" []	Orphanet:821	"" []	222601	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Sotos syndrome
Orphanet:93460	Orphanet:821	\N	"" []	Orphanet:821	"" []	222602	\N	\N	EFO	1	EFO	Overgrowth syndrome	Sotos syndrome
Orphanet:98645	Orphanet:821	\N	"" []	Orphanet:821	"" []	222603	\N	\N	EFO	1	EFO	Cerebral disease with cataract	Sotos syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:821	"" []	578882	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Sotos syndrome
Orphanet:261786	Orphanet:262038	\N	"" []	Orphanet:821	"" []	578883	\N	\N	EFO	2	EFO	Partial deletion of chromosome 5	Sotos syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:821	"" []	578884	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Sotos syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:821	"" []	578885	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Sotos syndrome
Orphanet:98643	Orphanet:98645	\N	"" []	Orphanet:821	"" []	578886	\N	\N	EFO	2	EFO	Systemic disease with cataract	Sotos syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:821	"" []	1162477	\N	\N	EFO	3	EFO	genetic disorder	Sotos syndrome
Orphanet:98142	Orphanet:261786	\N	"" []	Orphanet:821	"" []	1162478	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Sotos syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:821	"" []	1162479	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Sotos syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:821	"" []	1162480	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Sotos syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:821	"" []	1162481	\N	\N	EFO	3	EFO	Syndromic cataract	Sotos syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:821	"" []	6152787	\N	\N	EFO	8	EFO	disease	Sotos syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:821	"" []	2046084	\N	\N	EFO	4	EFO	Autosomal monosomy	Sotos syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:821	"" []	2046085	\N	\N	EFO	4	EFO	genetic disorder	Sotos syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:821	"" []	2046086	\N	\N	EFO	4	EFO	Rare cataract	Sotos syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:821	"" []	6378995	\N	\N	EFO	9	EFO	disposition	Sotos syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:821	"" []	3196172	\N	\N	EFO	5	EFO	Autosomal anomaly	Sotos syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:821	"" []	3196174	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Sotos syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:821	"" []	6778831	\N	\N	EFO	10	EFO	material property	Sotos syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:821	"" []	4401884	\N	\N	EFO	6	EFO	Chromosomal anomaly	Sotos syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:821	"" []	4401885	\N	\N	EFO	6	EFO	Rare genetic eye disease	Sotos syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:821	"" []	7030021	\N	\N	EFO	11	EFO	experimental factor	Sotos syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:821	"" []	5418073	\N	\N	EFO	7	EFO	genetic disorder	Sotos syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:821	"" []	5418074	\N	\N	EFO	7	EFO	genetic disorder	Sotos syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:821	"" []	5418075	\N	\N	EFO	7	EFO	eye disease	Sotos syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:821	"" []	6152788	\N	\N	EFO	8	EFO	disease	Sotos syndrome
Orphanet:822	\N	\N	"" []	Orphanet:822	"" []	78101	\N	\N	EFO	0	EFO	Hereditary spherocytosis	Hereditary spherocytosis
Orphanet:98364	Orphanet:822	\N	"" []	Orphanet:822	"" []	222604	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Hereditary spherocytosis
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:822	"" []	578887	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Hereditary spherocytosis
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:822	"" []	1162482	\N	\N	EFO	3	EFO	Rare constitutional anemia	Hereditary spherocytosis
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:822	"" []	2046087	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hereditary spherocytosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:822	"" []	3196175	\N	\N	EFO	5	EFO	genetic disorder	Hereditary spherocytosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:822	"" []	3196176	\N	\N	EFO	5	EFO	hematological system disease	Hereditary spherocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:822	"" []	4401886	\N	\N	EFO	6	EFO	disease	Hereditary spherocytosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:822	"" []	4401887	\N	\N	EFO	6	EFO	disease	Hereditary spherocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:822	"" []	5418076	\N	\N	EFO	7	EFO	disposition	Hereditary spherocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:822	"" []	6152789	\N	\N	EFO	8	EFO	material property	Hereditary spherocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:822	"" []	6634177	\N	\N	EFO	9	EFO	experimental factor	Hereditary spherocytosis
Orphanet:823	\N	\N	"" []	Orphanet:823	"" []	78102	\N	\N	EFO	0	EFO	Isolated spina bifida	Isolated spina bifida
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:823	"" []	222605	\N	\N	EFO	1	EFO	Neural tube closure defect	Isolated spina bifida
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:823	"" []	578888	\N	\N	EFO	2	EFO	Neural tube defect	Isolated spina bifida
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:823	"" []	1162483	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Isolated spina bifida
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:823	"" []	2046088	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Isolated spina bifida
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:823	"" []	3196177	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Isolated spina bifida
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:823	"" []	3196178	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Isolated spina bifida
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:823	"" []	4401888	\N	\N	EFO	6	EFO	genetic disorder	Isolated spina bifida
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:823	"" []	4401889	\N	\N	EFO	6	EFO	genetic disorder	Isolated spina bifida
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:823	"" []	5418077	\N	\N	EFO	7	EFO	disease	Isolated spina bifida
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:823	"" []	6152790	\N	\N	EFO	8	EFO	disposition	Isolated spina bifida
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:823	"" []	6634178	\N	\N	EFO	9	EFO	material property	Isolated spina bifida
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:823	"" []	6926261	\N	\N	EFO	10	EFO	experimental factor	Isolated spina bifida
Orphanet:827	\N	\N	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	78103	\N	\N	EFO	0	EFO	Stargardt disease	Stargardt disease
Orphanet:227786	Orphanet:827	\N	"" []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	222606	\N	\N	EFO	1	EFO	Familial flecked retinopathy	Stargardt disease
Orphanet:98664	Orphanet:227786	\N	"" []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	578889	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Stargardt disease
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	1162484	\N	\N	EFO	3	EFO	Retinal dystrophy	Stargardt disease
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	2046089	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Stargardt disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	3196179	\N	\N	EFO	5	EFO	Rare genetic eye disease	Stargardt disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	4401890	\N	\N	EFO	6	EFO	genetic disorder	Stargardt disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	4401891	\N	\N	EFO	6	EFO	eye disease	Stargardt disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	5418078	\N	\N	EFO	7	EFO	disease	Stargardt disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	5418079	\N	\N	EFO	7	EFO	disease	Stargardt disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	6152791	\N	\N	EFO	8	EFO	disposition	Stargardt disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	6634179	\N	\N	EFO	9	EFO	material property	Stargardt disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:827	"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." []	6926262	\N	\N	EFO	10	EFO	experimental factor	Stargardt disease
Orphanet:828	\N	\N	"" []	Orphanet:828	"" []	78104	\N	\N	EFO	0	EFO	Stickler syndrome	Stickler syndrome
Orphanet:108987	Orphanet:828	\N	"" []	Orphanet:828	"" []	222607	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Stickler syndrome
Orphanet:138041	Orphanet:828	\N	"" []	Orphanet:828	"" []	222608	\N	\N	EFO	1	EFO	Pierre Robin syndrome associated with collagen disease	Stickler syndrome
Orphanet:253	Orphanet:828	\N	"" []	Orphanet:828	"" []	222609	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Stickler syndrome
Orphanet:90642	Orphanet:828	\N	"" []	Orphanet:828	"" []	222610	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Stickler syndrome
Orphanet:98620	Orphanet:828	\N	"" []	Orphanet:828	"" []	222611	\N	\N	EFO	1	EFO	Syndromic myopia	Stickler syndrome
Orphanet:98638	Orphanet:828	\N	"" []	Orphanet:828	"" []	222612	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Stickler syndrome
Orphanet:98648	Orphanet:828	\N	"" []	Orphanet:828	"" []	222613	\N	\N	EFO	1	EFO	Musculoskeletal disease with cataract	Stickler syndrome
Orphanet:98670	Orphanet:828	\N	"" []	Orphanet:828	"" []	222614	\N	\N	EFO	1	EFO	Vitreoretinal degeneration	Stickler syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:828	"" []	578890	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Stickler syndrome
Orphanet:363294	Orphanet:138041	\N	"" []	Orphanet:828	"" []	578891	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Stickler syndrome
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:828	"" []	578892	\N	\N	EFO	2	EFO	Primary bone dysplasia	Stickler syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:828	"" []	578893	\N	\N	EFO	2	EFO	Rare genetic deafness	Stickler syndrome
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:828	"" []	578894	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	Stickler syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:828	"" []	578895	\N	\N	EFO	2	EFO	Rare genetic eye disease	Stickler syndrome
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:828	"" []	578896	\N	\N	EFO	2	EFO	Systemic disease with cataract	Stickler syndrome
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:828	"" []	578897	\N	\N	EFO	2	EFO	Vitreoretinopathy	Stickler syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:828	"" []	1162485	\N	\N	EFO	3	EFO	Rare genetic eye disease	Stickler syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:828	"" []	1162486	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Stickler syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:828	"" []	1162487	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Stickler syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:828	"" []	1162488	\N	\N	EFO	3	EFO	Rare genetic bone disease	Stickler syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:828	"" []	1162489	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Stickler syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:828	"" []	1162490	\N	\N	EFO	3	EFO	genetic disorder	Stickler syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:828	"" []	1162491	\N	\N	EFO	3	EFO	auditory system disease	Stickler syndrome
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:828	"" []	1162492	\N	\N	EFO	3	EFO	Rare genetic eye disease	Stickler syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:828	"" []	5418082	\N	\N	EFO	7	EFO	genetic disorder	Stickler syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:828	"" []	5418083	\N	\N	EFO	7	EFO	eye disease	Stickler syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:828	"" []	1162495	\N	\N	EFO	3	EFO	Syndromic cataract	Stickler syndrome
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:828	"" []	1162496	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Stickler syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:828	"" []	5418080	\N	\N	EFO	7	EFO	genetic disorder	Stickler syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:828	"" []	2046093	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Stickler syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:828	"" []	2046094	\N	\N	EFO	4	EFO	genetic disorder	Stickler syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:828	"" []	2046095	\N	\N	EFO	4	EFO	bone disease	Stickler syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:828	"" []	2046096	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Stickler syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:828	"" []	5801890	\N	\N	EFO	8	EFO	disease	Stickler syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:828	"" []	2046098	\N	\N	EFO	4	EFO	sensory system disease	Stickler syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:828	"" []	5801891	\N	\N	EFO	8	EFO	disease	Stickler syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:828	"" []	2046100	\N	\N	EFO	4	EFO	Rare cataract	Stickler syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:828	"" []	2046101	\N	\N	EFO	4	EFO	Rare genetic eye disease	Stickler syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:828	"" []	3196180	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Stickler syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:828	"" []	3196181	\N	\N	EFO	5	EFO	skeletal system disease	Stickler syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:828	"" []	6378996	\N	\N	EFO	9	EFO	disposition	Stickler syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:828	"" []	3196184	\N	\N	EFO	5	EFO	nervous system disease	Stickler syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:828	"" []	3196185	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Stickler syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:828	"" []	4401892	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Stickler syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:828	"" []	4401893	\N	\N	EFO	6	EFO	disease	Stickler syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:828	"" []	6778832	\N	\N	EFO	10	EFO	material property	Stickler syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:828	"" []	4401895	\N	\N	EFO	6	EFO	disease	Stickler syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:828	"" []	4401896	\N	\N	EFO	6	EFO	Rare genetic eye disease	Stickler syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:828	"" []	7030022	\N	\N	EFO	11	EFO	experimental factor	Stickler syndrome
Orphanet:83	\N	\N	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	78105	\N	\N	EFO	0	EFO	Antley-Bixler syndrome	Antley-Bixler syndrome
Orphanet:139393	Orphanet:83	\N	"" []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	222615	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Antley-Bixler syndrome
Orphanet:330197	Orphanet:83	\N	"" []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	222616	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Antley-Bixler syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	578898	\N	\N	EFO	2	EFO	Craniosynostosis	Antley-Bixler syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	578899	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Antley-Bixler syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	1162497	\N	\N	EFO	3	EFO	Genetic cranial malformation	Antley-Bixler syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	1162498	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Antley-Bixler syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	1162499	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Antley-Bixler syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	2046102	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Antley-Bixler syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	2046103	\N	\N	EFO	4	EFO	Rare genetic bone disease	Antley-Bixler syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	2046104	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Antley-Bixler syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	4401898	\N	\N	EFO	6	EFO	genetic disorder	Antley-Bixler syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	3196189	\N	\N	EFO	5	EFO	genetic disorder	Antley-Bixler syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	3196190	\N	\N	EFO	5	EFO	bone disease	Antley-Bixler syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	3196191	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Antley-Bixler syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	5060277	\N	\N	EFO	7	EFO	disease	Antley-Bixler syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	4401897	\N	\N	EFO	6	EFO	skeletal system disease	Antley-Bixler syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	5877761	\N	\N	EFO	8	EFO	disposition	Antley-Bixler syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	5418084	\N	\N	EFO	7	EFO	disease	Antley-Bixler syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	6470979	\N	\N	EFO	9	EFO	material property	Antley-Bixler syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83	"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)." []	6848821	\N	\N	EFO	10	EFO	experimental factor	Antley-Bixler syndrome
Orphanet:832	\N	\N	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	Orphanet:832	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	78106	\N	\N	EFO	0	EFO	Succinyl-CoA:3-ketoacid CoA transferase deficiency	Succinyl-CoA:3-ketoacid CoA transferase deficiency
Orphanet:79183	Orphanet:832	\N	"" []	Orphanet:832	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	222617	\N	\N	EFO	1	EFO	Disorder of ketone body metabolism	Succinyl-CoA:3-ketoacid CoA transferase deficiency
Orphanet:79174	Orphanet:79183	\N	"" []	Orphanet:832	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	578900	\N	\N	EFO	2	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Succinyl-CoA:3-ketoacid CoA transferase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:832	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	1162500	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Succinyl-CoA:3-ketoacid CoA transferase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:832	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	2046106	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Succinyl-CoA:3-ketoacid CoA transferase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:832	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	3196193	\N	\N	EFO	5	EFO	genetic disorder	Succinyl-CoA:3-ketoacid CoA transferase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:832	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	3196194	\N	\N	EFO	5	EFO	metabolic disease	Succinyl-CoA:3-ketoacid CoA transferase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:832	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	4401900	\N	\N	EFO	6	EFO	disease	Succinyl-CoA:3-ketoacid CoA transferase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:832	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	4401901	\N	\N	EFO	6	EFO	disease	Succinyl-CoA:3-ketoacid CoA transferase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:832	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	5418086	\N	\N	EFO	7	EFO	disposition	Succinyl-CoA:3-ketoacid CoA transferase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:832	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	6152793	\N	\N	EFO	8	EFO	material property	Succinyl-CoA:3-ketoacid CoA transferase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:832	"Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." []	6634180	\N	\N	EFO	9	EFO	experimental factor	Succinyl-CoA:3-ketoacid CoA transferase deficiency
Orphanet:833	\N	\N	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	78107	\N	\N	EFO	0	EFO	Encephalopathy due to sulfite oxidase deficiency	Encephalopathy due to sulfite oxidase deficiency
Orphanet:108987	Orphanet:833	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	222618	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Encephalopathy due to sulfite oxidase deficiency
Orphanet:139009	Orphanet:833	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	222619	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Encephalopathy due to sulfite oxidase deficiency
Orphanet:68385	Orphanet:833	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	222620	\N	\N	EFO	1	EFO	Neurometabolic disease	Encephalopathy due to sulfite oxidase deficiency
Orphanet:79173	Orphanet:833	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	222621	\N	\N	EFO	1	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Encephalopathy due to sulfite oxidase deficiency
Orphanet:98653	Orphanet:833	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	222622	\N	\N	EFO	1	EFO	Lens position anomaly	Encephalopathy due to sulfite oxidase deficiency
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	578901	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Encephalopathy due to sulfite oxidase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	578902	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Encephalopathy due to sulfite oxidase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	578903	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Encephalopathy due to sulfite oxidase deficiency
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	578904	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Encephalopathy due to sulfite oxidase deficiency
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	578905	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Encephalopathy due to sulfite oxidase deficiency
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	1162501	\N	\N	EFO	3	EFO	Rare genetic eye disease	Encephalopathy due to sulfite oxidase deficiency
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	1162502	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Encephalopathy due to sulfite oxidase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	2046109	\N	\N	EFO	4	EFO	genetic disorder	Encephalopathy due to sulfite oxidase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	1162504	\N	\N	EFO	3	EFO	genetic disorder	Encephalopathy due to sulfite oxidase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	1162505	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Encephalopathy due to sulfite oxidase deficiency
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	1162506	\N	\N	EFO	3	EFO	Rare genetic eye disease	Encephalopathy due to sulfite oxidase deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	2046107	\N	\N	EFO	4	EFO	genetic disorder	Encephalopathy due to sulfite oxidase deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	2046108	\N	\N	EFO	4	EFO	eye disease	Encephalopathy due to sulfite oxidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	3000455	\N	\N	EFO	5	EFO	disease	Encephalopathy due to sulfite oxidase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	2046111	\N	\N	EFO	4	EFO	genetic disorder	Encephalopathy due to sulfite oxidase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	2046112	\N	\N	EFO	4	EFO	metabolic disease	Encephalopathy due to sulfite oxidase deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	3196195	\N	\N	EFO	5	EFO	disease	Encephalopathy due to sulfite oxidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	4134369	\N	\N	EFO	6	EFO	disposition	Encephalopathy due to sulfite oxidase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	3196197	\N	\N	EFO	5	EFO	disease	Encephalopathy due to sulfite oxidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	5183376	\N	\N	EFO	7	EFO	material property	Encephalopathy due to sulfite oxidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:833	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	5998712	\N	\N	EFO	8	EFO	experimental factor	Encephalopathy due to sulfite oxidase deficiency
Orphanet:83330	\N	\N	"" []	Orphanet:83330	"" []	78108	\N	\N	EFO	0	EFO	Proximal spinal muscular atrophy type 1	Proximal spinal muscular atrophy type 1
Orphanet:70	Orphanet:83330	\N	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	Orphanet:83330	"" []	222623	\N	\N	EFO	1	EFO	Proximal spinal muscular atrophy	Proximal spinal muscular atrophy type 1
Orphanet:98497	Orphanet:70	\N	"" []	Orphanet:83330	"" []	578906	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Proximal spinal muscular atrophy type 1
Orphanet:98505	Orphanet:70	\N	"" []	Orphanet:83330	"" []	578907	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Proximal spinal muscular atrophy type 1
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:83330	"" []	1162507	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Proximal spinal muscular atrophy type 1
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:83330	"" []	1162508	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Proximal spinal muscular atrophy type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83330	"" []	3196200	\N	\N	EFO	5	EFO	genetic disorder	Proximal spinal muscular atrophy type 1
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:83330	"" []	2046114	\N	\N	EFO	4	EFO	muscular disease	Proximal spinal muscular atrophy type 1
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:83330	"" []	2046115	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Proximal spinal muscular atrophy type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83330	"" []	4134370	\N	\N	EFO	6	EFO	disease	Proximal spinal muscular atrophy type 1
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:83330	"" []	3196199	\N	\N	EFO	5	EFO	skeletal system disease	Proximal spinal muscular atrophy type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83330	"" []	5183377	\N	\N	EFO	7	EFO	disposition	Proximal spinal muscular atrophy type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83330	"" []	4401904	\N	\N	EFO	6	EFO	disease	Proximal spinal muscular atrophy type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83330	"" []	5998713	\N	\N	EFO	8	EFO	material property	Proximal spinal muscular atrophy type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83330	"" []	6551762	\N	\N	EFO	9	EFO	experimental factor	Proximal spinal muscular atrophy type 1
Orphanet:834	\N	\N	"" []	Orphanet:834	"" []	78109	\N	\N	EFO	0	EFO	Free sialic acid storage disease	Free sialic acid storage disease
Orphanet:68385	Orphanet:834	\N	"" []	Orphanet:834	"" []	222624	\N	\N	EFO	1	EFO	Neurometabolic disease	Free sialic acid storage disease
Orphanet:79207	Orphanet:834	\N	"" []	Orphanet:834	"" []	222625	\N	\N	EFO	1	EFO	Disorder of lysosomal amino acid transport	Free sialic acid storage disease
Orphanet:93448	Orphanet:834	\N	"" []	Orphanet:834	"" []	222626	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Free sialic acid storage disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:834	"" []	578908	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Free sialic acid storage disease
Orphanet:68366	Orphanet:79207	\N	"" []	Orphanet:834	"" []	578909	\N	\N	EFO	2	EFO	Lysosomal disease	Free sialic acid storage disease
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:834	"" []	578910	\N	\N	EFO	2	EFO	Rare genetic bone disease	Free sialic acid storage disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:834	"" []	1162509	\N	\N	EFO	3	EFO	genetic disorder	Free sialic acid storage disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:834	"" []	1162510	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Free sialic acid storage disease
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:834	"" []	1162511	\N	\N	EFO	3	EFO	genetic disorder	Free sialic acid storage disease
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:834	"" []	1162512	\N	\N	EFO	3	EFO	bone disease	Free sialic acid storage disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:834	"" []	3196202	\N	\N	EFO	5	EFO	disease	Free sialic acid storage disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:834	"" []	2046117	\N	\N	EFO	4	EFO	genetic disorder	Free sialic acid storage disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:834	"" []	2046118	\N	\N	EFO	4	EFO	metabolic disease	Free sialic acid storage disease
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:834	"" []	2046119	\N	\N	EFO	4	EFO	skeletal system disease	Free sialic acid storage disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:834	"" []	4134371	\N	\N	EFO	6	EFO	disposition	Free sialic acid storage disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:834	"" []	3196203	\N	\N	EFO	5	EFO	disease	Free sialic acid storage disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:834	"" []	3196204	\N	\N	EFO	5	EFO	disease	Free sialic acid storage disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:834	"" []	5183378	\N	\N	EFO	7	EFO	material property	Free sialic acid storage disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:834	"" []	5998714	\N	\N	EFO	8	EFO	experimental factor	Free sialic acid storage disease
Orphanet:83418	\N	\N	"" []	Orphanet:83418	"" []	78110	\N	\N	EFO	0	EFO	Proximal spinal muscular atrophy type 2	Proximal spinal muscular atrophy type 2
Orphanet:70	Orphanet:83418	\N	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	Orphanet:83418	"" []	222627	\N	\N	EFO	1	EFO	Proximal spinal muscular atrophy	Proximal spinal muscular atrophy type 2
Orphanet:98497	Orphanet:70	\N	"" []	Orphanet:83418	"" []	578911	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Proximal spinal muscular atrophy type 2
Orphanet:98505	Orphanet:70	\N	"" []	Orphanet:83418	"" []	578912	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Proximal spinal muscular atrophy type 2
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:83418	"" []	1162513	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Proximal spinal muscular atrophy type 2
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:83418	"" []	1162514	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Proximal spinal muscular atrophy type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83418	"" []	3196207	\N	\N	EFO	5	EFO	genetic disorder	Proximal spinal muscular atrophy type 2
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:83418	"" []	2046121	\N	\N	EFO	4	EFO	muscular disease	Proximal spinal muscular atrophy type 2
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:83418	"" []	2046122	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Proximal spinal muscular atrophy type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83418	"" []	4134372	\N	\N	EFO	6	EFO	disease	Proximal spinal muscular atrophy type 2
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:83418	"" []	3196206	\N	\N	EFO	5	EFO	skeletal system disease	Proximal spinal muscular atrophy type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83418	"" []	5183379	\N	\N	EFO	7	EFO	disposition	Proximal spinal muscular atrophy type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83418	"" []	4401907	\N	\N	EFO	6	EFO	disease	Proximal spinal muscular atrophy type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83418	"" []	5998715	\N	\N	EFO	8	EFO	material property	Proximal spinal muscular atrophy type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83418	"" []	6551763	\N	\N	EFO	9	EFO	experimental factor	Proximal spinal muscular atrophy type 2
Orphanet:83419	\N	\N	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	78111	\N	\N	EFO	0	EFO	Proximal spinal muscular atrophy type 3	Proximal spinal muscular atrophy type 3
Orphanet:70	Orphanet:83419	\N	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	222628	\N	\N	EFO	1	EFO	Proximal spinal muscular atrophy	Proximal spinal muscular atrophy type 3
Orphanet:98497	Orphanet:70	\N	"" []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	578913	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Proximal spinal muscular atrophy type 3
Orphanet:98505	Orphanet:70	\N	"" []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	578914	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Proximal spinal muscular atrophy type 3
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	1162515	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Proximal spinal muscular atrophy type 3
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	1162516	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Proximal spinal muscular atrophy type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	3196210	\N	\N	EFO	5	EFO	genetic disorder	Proximal spinal muscular atrophy type 3
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	2046124	\N	\N	EFO	4	EFO	muscular disease	Proximal spinal muscular atrophy type 3
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	2046125	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Proximal spinal muscular atrophy type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	4134373	\N	\N	EFO	6	EFO	disease	Proximal spinal muscular atrophy type 3
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	3196209	\N	\N	EFO	5	EFO	skeletal system disease	Proximal spinal muscular atrophy type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	5183380	\N	\N	EFO	7	EFO	disposition	Proximal spinal muscular atrophy type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	4401909	\N	\N	EFO	6	EFO	disease	Proximal spinal muscular atrophy type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	5998716	\N	\N	EFO	8	EFO	material property	Proximal spinal muscular atrophy type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83419	"Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	6551764	\N	\N	EFO	9	EFO	experimental factor	Proximal spinal muscular atrophy type 3
Orphanet:83420	\N	\N	"" []	Orphanet:83420	"" []	78112	\N	\N	EFO	0	EFO	Proximal spinal muscular atrophy type 4	Proximal spinal muscular atrophy type 4
Orphanet:70	Orphanet:83420	\N	"Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." []	Orphanet:83420	"" []	222629	\N	\N	EFO	1	EFO	Proximal spinal muscular atrophy	Proximal spinal muscular atrophy type 4
Orphanet:98497	Orphanet:70	\N	"" []	Orphanet:83420	"" []	578915	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Proximal spinal muscular atrophy type 4
Orphanet:98505	Orphanet:70	\N	"" []	Orphanet:83420	"" []	578916	\N	\N	EFO	2	EFO	Genetic motor neuron disease	Proximal spinal muscular atrophy type 4
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:83420	"" []	1162517	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Proximal spinal muscular atrophy type 4
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:83420	"" []	1162518	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Proximal spinal muscular atrophy type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83420	"" []	3196213	\N	\N	EFO	5	EFO	genetic disorder	Proximal spinal muscular atrophy type 4
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:83420	"" []	2046127	\N	\N	EFO	4	EFO	muscular disease	Proximal spinal muscular atrophy type 4
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:83420	"" []	2046128	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Proximal spinal muscular atrophy type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83420	"" []	4134374	\N	\N	EFO	6	EFO	disease	Proximal spinal muscular atrophy type 4
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:83420	"" []	3196212	\N	\N	EFO	5	EFO	skeletal system disease	Proximal spinal muscular atrophy type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83420	"" []	5183381	\N	\N	EFO	7	EFO	disposition	Proximal spinal muscular atrophy type 4
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83420	"" []	4401911	\N	\N	EFO	6	EFO	disease	Proximal spinal muscular atrophy type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83420	"" []	5998717	\N	\N	EFO	8	EFO	material property	Proximal spinal muscular atrophy type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83420	"" []	6551765	\N	\N	EFO	9	EFO	experimental factor	Proximal spinal muscular atrophy type 4
Orphanet:83454	\N	\N	"" []	Orphanet:83454	"" []	78113	\N	\N	EFO	0	EFO	Glomuvenous malformation	Glomuvenous malformation
Orphanet:371436	Orphanet:83454	\N	"" []	Orphanet:83454	"" []	222630	\N	\N	EFO	1	EFO	Genetic neurovascular malformation	Glomuvenous malformation
Orphanet:183503	Orphanet:371436	\N	"" []	Orphanet:83454	"" []	578917	\N	\N	EFO	2	EFO	Genetic central nervous system and retinal vascular disease	Glomuvenous malformation
Orphanet:211240	Orphanet:371436	\N	"" []	Orphanet:83454	"" []	578918	\N	\N	EFO	2	EFO	Genetic vascular anomaly	Glomuvenous malformation
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:83454	"" []	1162519	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Glomuvenous malformation
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:83454	"" []	1162520	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Glomuvenous malformation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83454	"" []	2046129	\N	\N	EFO	4	EFO	genetic disorder	Glomuvenous malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83454	"" []	2046130	\N	\N	EFO	4	EFO	genetic disorder	Glomuvenous malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83454	"" []	3196214	\N	\N	EFO	5	EFO	disease	Glomuvenous malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83454	"" []	4401912	\N	\N	EFO	6	EFO	disposition	Glomuvenous malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83454	"" []	5418093	\N	\N	EFO	7	EFO	material property	Glomuvenous malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83454	"" []	6152798	\N	\N	EFO	8	EFO	experimental factor	Glomuvenous malformation
Orphanet:83461	\N	\N	"" []	Orphanet:83461	"" []	78114	\N	\N	EFO	0	EFO	Congenital primary aphakia	Congenital primary aphakia
Orphanet:108985	Orphanet:83461	\N	"" []	Orphanet:83461	"" []	222631	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Congenital primary aphakia
Orphanet:98558	Orphanet:83461	\N	"" []	Orphanet:83461	"" []	222632	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	Congenital primary aphakia
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:83461	"" []	578919	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Congenital primary aphakia
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:83461	"" []	578920	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Congenital primary aphakia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:83461	"" []	1162521	\N	\N	EFO	3	EFO	Rare genetic eye disease	Congenital primary aphakia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:83461	"" []	1162522	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital primary aphakia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83461	"" []	2046131	\N	\N	EFO	4	EFO	genetic disorder	Congenital primary aphakia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:83461	"" []	2046132	\N	\N	EFO	4	EFO	eye disease	Congenital primary aphakia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83461	"" []	2046133	\N	\N	EFO	4	EFO	genetic disorder	Congenital primary aphakia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83461	"" []	3196215	\N	\N	EFO	5	EFO	disease	Congenital primary aphakia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83461	"" []	3196216	\N	\N	EFO	5	EFO	disease	Congenital primary aphakia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83461	"" []	4401913	\N	\N	EFO	6	EFO	disposition	Congenital primary aphakia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83461	"" []	5418094	\N	\N	EFO	7	EFO	material property	Congenital primary aphakia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83461	"" []	6152799	\N	\N	EFO	8	EFO	experimental factor	Congenital primary aphakia
Orphanet:83471	\N	\N	"" []	Orphanet:83471	"" []	78115	\N	\N	EFO	0	EFO	Thymic aplasia	Thymic aplasia
Orphanet:331220	Orphanet:83471	\N	"" []	Orphanet:83471	"" []	222633	\N	\N	EFO	1	EFO	Immunodeficiency due to absence of thymus	Thymic aplasia
Orphanet:331217	Orphanet:331220	\N	"" []	Orphanet:83471	"" []	578921	\N	\N	EFO	2	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Thymic aplasia
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:83471	"" []	1162523	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Thymic aplasia
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:83471	"" []	2046134	\N	\N	EFO	4	EFO	Primary immunodeficiency	Thymic aplasia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:83471	"" []	3196217	\N	\N	EFO	5	EFO	Rare genetic immune disease	Thymic aplasia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83471	"" []	4401914	\N	\N	EFO	6	EFO	genetic disorder	Thymic aplasia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:83471	"" []	4401915	\N	\N	EFO	6	EFO	immune system disease	Thymic aplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83471	"" []	5418095	\N	\N	EFO	7	EFO	disease	Thymic aplasia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83471	"" []	5418096	\N	\N	EFO	7	EFO	disease	Thymic aplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83471	"" []	6152800	\N	\N	EFO	8	EFO	disposition	Thymic aplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83471	"" []	6634181	\N	\N	EFO	9	EFO	material property	Thymic aplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83471	"" []	6926263	\N	\N	EFO	10	EFO	experimental factor	Thymic aplasia
Orphanet:83472	\N	\N	"" []	Orphanet:83472	"" []	78116	\N	\N	EFO	0	EFO	CAMOS syndrome	CAMOS syndrome
Orphanet:98095	Orphanet:83472	\N	"" []	Orphanet:83472	"" []	222634	\N	\N	EFO	1	EFO	Autosomal recessive congenital cerebellar ataxia	CAMOS syndrome
Orphanet:98677	Orphanet:83472	\N	"" []	Orphanet:83472	"" []	222635	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	CAMOS syndrome
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:83472	"" []	578922	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	CAMOS syndrome
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:83472	"" []	578923	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	CAMOS syndrome
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:83472	"" []	1162524	\N	\N	EFO	3	EFO	Rare hereditary ataxia	CAMOS syndrome
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:83472	"" []	1162525	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	CAMOS syndrome
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:83472	"" []	1162526	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	CAMOS syndrome
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:83472	"" []	1162527	\N	\N	EFO	3	EFO	Genetic optic atrophy	CAMOS syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:83472	"" []	2046135	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	CAMOS syndrome
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:83472	"" []	2046136	\N	\N	EFO	4	EFO	Ataxia with dementia	CAMOS syndrome
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:83472	"" []	2046137	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	CAMOS syndrome
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:83472	"" []	2046138	\N	\N	EFO	4	EFO	Optic neuropathy	CAMOS syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83472	"" []	6152803	\N	\N	EFO	8	EFO	genetic disorder	CAMOS syndrome
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:83472	"" []	3196219	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	CAMOS syndrome
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:83472	"" []	3196220	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	CAMOS syndrome
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:83472	"" []	3196221	\N	\N	EFO	5	EFO	Rare genetic eye disease	CAMOS syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83472	"" []	6410370	\N	\N	EFO	9	EFO	disease	CAMOS syndrome
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:83472	"" []	4401917	\N	\N	EFO	6	EFO	Genetic dementia	CAMOS syndrome
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:83472	"" []	4401918	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	CAMOS syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:83472	"" []	4401919	\N	\N	EFO	6	EFO	Rare genetic eye disease	CAMOS syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83472	"" []	5418103	\N	\N	EFO	7	EFO	genetic disorder	CAMOS syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:83472	"" []	5418104	\N	\N	EFO	7	EFO	eye disease	CAMOS syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83472	"" []	6808180	\N	\N	EFO	10	EFO	disposition	CAMOS syndrome
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:83472	"" []	5418098	\N	\N	EFO	7	EFO	brain disease	CAMOS syndrome
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:83472	"" []	5418099	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	CAMOS syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:83472	"" []	5418100	\N	\N	EFO	7	EFO	neurodegenerative disease	CAMOS syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:83472	"" []	5418101	\N	\N	EFO	7	EFO	brain disease	CAMOS syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:83472	"" []	5418102	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	CAMOS syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83472	"" []	5998720	\N	\N	EFO	8	EFO	disease	CAMOS syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83472	"" []	7048809	\N	\N	EFO	11	EFO	material property	CAMOS syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:83472	"" []	6152802	\N	\N	EFO	8	EFO	nervous system disease	CAMOS syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:83472	"" []	6152804	\N	\N	EFO	8	EFO	nervous system disease	CAMOS syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83472	"" []	7190256	\N	\N	EFO	12	EFO	experimental factor	CAMOS syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83472	"" []	6634183	\N	\N	EFO	9	EFO	disease	CAMOS syndrome
Orphanet:83473	\N	\N	"" []	Orphanet:83473	"" []	78117	\N	\N	EFO	0	EFO	Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus	Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Orphanet:269564	Orphanet:83473	\N	"" []	Orphanet:83473	"" []	222636	\N	\N	EFO	1	EFO	Genetic syndrome with a central nervous system malformation as major feature	Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:83473	"" []	578924	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:83473	"" []	1162528	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:83473	"" []	1162529	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83473	"" []	2046139	\N	\N	EFO	4	EFO	genetic disorder	Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83473	"" []	2046140	\N	\N	EFO	4	EFO	genetic disorder	Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83473	"" []	3196222	\N	\N	EFO	5	EFO	disease	Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83473	"" []	4401922	\N	\N	EFO	6	EFO	disposition	Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83473	"" []	5418107	\N	\N	EFO	7	EFO	material property	Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83473	"" []	6152805	\N	\N	EFO	8	EFO	experimental factor	Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Orphanet:83617	\N	\N	"" []	Orphanet:83617	"" []	78118	\N	\N	EFO	0	EFO	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:102283	Orphanet:83617	\N	"" []	Orphanet:83617	"" []	222637	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:183494	Orphanet:83617	\N	"" []	Orphanet:83617	"" []	222638	\N	\N	EFO	1	EFO	Genetic immune deficiency with skin involvement	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:183763	Orphanet:83617	\N	"" []	Orphanet:83617	"" []	222639	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:229720	Orphanet:83617	\N	"" []	Orphanet:83617	"" []	222640	\N	\N	EFO	1	EFO	Syndromic agammaglobulinemia	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:83617	"" []	578925	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:68346	Orphanet:183494	\N	"" []	Orphanet:83617	"" []	578926	\N	\N	EFO	2	EFO	Rare genetic skin disease	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:83617	"" []	578927	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:183669	Orphanet:229720	\N	"" []	Orphanet:83617	"" []	578928	\N	\N	EFO	2	EFO	Agammaglobulinemia	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:83617	"" []	1162530	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83617	"" []	1162531	\N	\N	EFO	3	EFO	genetic disorder	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:83617	"" []	1162532	\N	\N	EFO	3	EFO	skin disease	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:83617	"" []	1162533	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:101977	Orphanet:183669	\N	"" []	Orphanet:83617	"" []	1162534	\N	\N	EFO	3	EFO	Immunodeficiency predominantly affecting antibody production	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83617	"" []	2046141	\N	\N	EFO	4	EFO	genetic disorder	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83617	"" []	6152806	\N	\N	EFO	8	EFO	disease	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83617	"" []	2046143	\N	\N	EFO	4	EFO	disease	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83617	"" []	2046144	\N	\N	EFO	4	EFO	genetic disorder	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:179006	Orphanet:101977	\N	"" []	Orphanet:83617	"" []	2046145	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83617	"" []	6378997	\N	\N	EFO	9	EFO	disposition	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:83617	"" []	3196225	\N	\N	EFO	5	EFO	Primary immunodeficiency	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83617	"" []	6778833	\N	\N	EFO	10	EFO	material property	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:83617	"" []	4401924	\N	\N	EFO	6	EFO	Rare genetic immune disease	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83617	"" []	7030023	\N	\N	EFO	11	EFO	experimental factor	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83617	"" []	5418109	\N	\N	EFO	7	EFO	genetic disorder	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:83617	"" []	5418110	\N	\N	EFO	7	EFO	immune system disease	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83617	"" []	6152807	\N	\N	EFO	8	EFO	disease	Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Orphanet:83619	\N	\N	"" []	Orphanet:83619	"" []	78119	\N	\N	EFO	0	EFO	Macrostomia - preauricular tags - external ophthalmoplegia	Macrostomia - preauricular tags - external ophthalmoplegia
Orphanet:330206	Orphanet:83619	\N	"" []	Orphanet:83619	"" []	222641	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Macrostomia - preauricular tags - external ophthalmoplegia
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:83619	"" []	578929	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Macrostomia - preauricular tags - external ophthalmoplegia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:83619	"" []	1162535	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Macrostomia - preauricular tags - external ophthalmoplegia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83619	"" []	2046146	\N	\N	EFO	4	EFO	genetic disorder	Macrostomia - preauricular tags - external ophthalmoplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83619	"" []	3196226	\N	\N	EFO	5	EFO	disease	Macrostomia - preauricular tags - external ophthalmoplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83619	"" []	4401925	\N	\N	EFO	6	EFO	disposition	Macrostomia - preauricular tags - external ophthalmoplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83619	"" []	5418111	\N	\N	EFO	7	EFO	material property	Macrostomia - preauricular tags - external ophthalmoplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83619	"" []	6152808	\N	\N	EFO	8	EFO	experimental factor	Macrostomia - preauricular tags - external ophthalmoplegia
Orphanet:83620	\N	\N	"" []	Orphanet:83620	"" []	78120	\N	\N	EFO	0	EFO	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Orphanet:104007	Orphanet:83620	\N	"" []	Orphanet:83620	"" []	222642	\N	\N	EFO	1	EFO	Congenital enteropathy involving intestinal mucosa development	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Orphanet:165655	Orphanet:104007	\N	"" []	Orphanet:83620	"" []	578930	\N	\N	EFO	2	EFO	Genetic intestinal disease	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:83620	"" []	1162536	\N	\N	EFO	3	EFO	digestive system disease	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:83620	"" []	1162537	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83620	"" []	2046147	\N	\N	EFO	4	EFO	disease	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83620	"" []	2046148	\N	\N	EFO	4	EFO	genetic disorder	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83620	"" []	4401927	\N	\N	EFO	6	EFO	disposition	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83620	"" []	3196228	\N	\N	EFO	5	EFO	disease	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83620	"" []	5183383	\N	\N	EFO	7	EFO	material property	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83620	"" []	5998722	\N	\N	EFO	8	EFO	experimental factor	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Orphanet:83628	\N	\N	"" []	Orphanet:83628	"" []	78121	\N	\N	EFO	0	EFO	PELVIS syndrome	PELVIS syndrome
Orphanet:117573	Orphanet:83628	\N	"" []	Orphanet:83628	"" []	222643	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	PELVIS syndrome
Orphanet:330206	Orphanet:83628	\N	"" []	Orphanet:83628	"" []	222644	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	PELVIS syndrome
Orphanet:79385	Orphanet:83628	\N	"" []	Orphanet:83628	"" []	222645	\N	\N	EFO	1	EFO	Unclassified genetic skin disorder	PELVIS syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:83628	"" []	578931	\N	\N	EFO	2	EFO	Anorectal malformation	PELVIS syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:83628	"" []	578932	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	PELVIS syndrome
Orphanet:68346	Orphanet:79385	\N	"" []	Orphanet:83628	"" []	578933	\N	\N	EFO	2	EFO	Rare genetic skin disease	PELVIS syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:83628	"" []	1162538	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	PELVIS syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:83628	"" []	1162539	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	PELVIS syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83628	"" []	1162540	\N	\N	EFO	3	EFO	genetic disorder	PELVIS syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:83628	"" []	1162541	\N	\N	EFO	3	EFO	skin disease	PELVIS syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:83628	"" []	2046149	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	PELVIS syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83628	"" []	3196229	\N	\N	EFO	5	EFO	genetic disorder	PELVIS syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83628	"" []	4134376	\N	\N	EFO	6	EFO	disease	PELVIS syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83628	"" []	2046152	\N	\N	EFO	4	EFO	disease	PELVIS syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83628	"" []	5060278	\N	\N	EFO	7	EFO	disposition	PELVIS syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83628	"" []	5877762	\N	\N	EFO	8	EFO	material property	PELVIS syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83628	"" []	6470981	\N	\N	EFO	9	EFO	experimental factor	PELVIS syndrome
Orphanet:83629	\N	\N	"" []	Orphanet:83629	"" []	78122	\N	\N	EFO	0	EFO	Leukoencephalopathy - metaphyseal chondrodysplasia	Leukoencephalopathy - metaphyseal chondrodysplasia
Orphanet:183500	Orphanet:83629	\N	"" []	Orphanet:83629	"" []	222646	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Leukoencephalopathy - metaphyseal chondrodysplasia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:83629	"" []	578934	\N	\N	EFO	2	EFO	neurodegenerative disease	Leukoencephalopathy - metaphyseal chondrodysplasia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:83629	"" []	578935	\N	\N	EFO	2	EFO	brain disease	Leukoencephalopathy - metaphyseal chondrodysplasia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:83629	"" []	578936	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Leukoencephalopathy - metaphyseal chondrodysplasia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:83629	"" []	1162542	\N	\N	EFO	3	EFO	nervous system disease	Leukoencephalopathy - metaphyseal chondrodysplasia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:83629	"" []	1162543	\N	\N	EFO	3	EFO	nervous system disease	Leukoencephalopathy - metaphyseal chondrodysplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83629	"" []	1162544	\N	\N	EFO	3	EFO	genetic disorder	Leukoencephalopathy - metaphyseal chondrodysplasia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83629	"" []	2046153	\N	\N	EFO	4	EFO	disease	Leukoencephalopathy - metaphyseal chondrodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83629	"" []	2046154	\N	\N	EFO	4	EFO	disease	Leukoencephalopathy - metaphyseal chondrodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83629	"" []	3196232	\N	\N	EFO	5	EFO	disposition	Leukoencephalopathy - metaphyseal chondrodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83629	"" []	4401929	\N	\N	EFO	6	EFO	material property	Leukoencephalopathy - metaphyseal chondrodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83629	"" []	5418114	\N	\N	EFO	7	EFO	experimental factor	Leukoencephalopathy - metaphyseal chondrodysplasia
Orphanet:83639	\N	\N	"" []	Orphanet:83639	"" []	78123	\N	\N	EFO	0	EFO	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Orphanet:248361	Orphanet:83639	\N	"" []	Orphanet:83639	"" []	222647	\N	\N	EFO	1	EFO	Rare thrombotic disorder due to a constitutional coagulation factors defect	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Orphanet:309515	Orphanet:83639	\N	"" []	Orphanet:83639	"" []	222648	\N	\N	EFO	1	EFO	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Orphanet:371071	Orphanet:83639	\N	"" []	Orphanet:83639	"" []	222649	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Orphanet:183654	Orphanet:248361	\N	"" []	Orphanet:83639	"" []	578937	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Orphanet:137	Orphanet:309515	\N	"" []	Orphanet:83639	"" []	578938	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:83639	"" []	578939	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:83639	"" []	1162545	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:83639	"" []	1162546	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:83639	"" []	1162547	\N	\N	EFO	3	EFO	Neurometabolic disease	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83639	"" []	2046155	\N	\N	EFO	4	EFO	genetic disorder	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:83639	"" []	2046156	\N	\N	EFO	4	EFO	hematological system disease	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83639	"" []	2046157	\N	\N	EFO	4	EFO	genetic disorder	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:83639	"" []	2046158	\N	\N	EFO	4	EFO	metabolic disease	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:83639	"" []	2046159	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83639	"" []	4401931	\N	\N	EFO	6	EFO	disease	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83639	"" []	3196234	\N	\N	EFO	5	EFO	disease	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83639	"" []	3196235	\N	\N	EFO	5	EFO	disease	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83639	"" []	3196236	\N	\N	EFO	5	EFO	genetic disorder	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83639	"" []	5183385	\N	\N	EFO	7	EFO	disposition	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83639	"" []	5998724	\N	\N	EFO	8	EFO	material property	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83639	"" []	6551767	\N	\N	EFO	9	EFO	experimental factor	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Orphanet:83642	\N	\N	"" []	Orphanet:83642	"" []	78124	\N	\N	EFO	0	EFO	Microcytic anemia with liver iron overload	Microcytic anemia with liver iron overload
Orphanet:309842	Orphanet:83642	\N	"" []	Orphanet:83642	"" []	222650	\N	\N	EFO	1	EFO	Disorder of iron metabolism and transport	Microcytic anemia with liver iron overload
Orphanet:98360	Orphanet:83642	\N	"" []	Orphanet:83642	"" []	222651	\N	\N	EFO	1	EFO	Constitutional anemia due to iron metabolism disorder	Microcytic anemia with liver iron overload
Orphanet:309836	Orphanet:309842	\N	"" []	Orphanet:83642	"" []	578940	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Microcytic anemia with liver iron overload
Orphanet:248296	Orphanet:98360	\N	"" []	Orphanet:83642	"" []	578941	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Microcytic anemia with liver iron overload
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:83642	"" []	1162548	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Microcytic anemia with liver iron overload
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:83642	"" []	1162549	\N	\N	EFO	3	EFO	Rare constitutional anemia	Microcytic anemia with liver iron overload
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:83642	"" []	2046160	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Microcytic anemia with liver iron overload
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:83642	"" []	2046161	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Microcytic anemia with liver iron overload
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83642	"" []	3196237	\N	\N	EFO	5	EFO	genetic disorder	Microcytic anemia with liver iron overload
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:83642	"" []	3196238	\N	\N	EFO	5	EFO	metabolic disease	Microcytic anemia with liver iron overload
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83642	"" []	3196239	\N	\N	EFO	5	EFO	genetic disorder	Microcytic anemia with liver iron overload
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:83642	"" []	3196240	\N	\N	EFO	5	EFO	hematological system disease	Microcytic anemia with liver iron overload
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83642	"" []	4401932	\N	\N	EFO	6	EFO	disease	Microcytic anemia with liver iron overload
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83642	"" []	4401933	\N	\N	EFO	6	EFO	disease	Microcytic anemia with liver iron overload
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83642	"" []	4401934	\N	\N	EFO	6	EFO	disease	Microcytic anemia with liver iron overload
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83642	"" []	5418116	\N	\N	EFO	7	EFO	disposition	Microcytic anemia with liver iron overload
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83642	"" []	6152810	\N	\N	EFO	8	EFO	material property	Microcytic anemia with liver iron overload
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83642	"" []	6634184	\N	\N	EFO	9	EFO	experimental factor	Microcytic anemia with liver iron overload
Orphanet:83648	\N	\N	"" []	Orphanet:83648	"" []	78125	\N	\N	EFO	0	EFO	X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction	X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction
Orphanet:98464	Orphanet:83648	\N	"" []	Orphanet:83648	"" []	222652	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:83648	"" []	578942	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:83648	"" []	1162550	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:83648	"" []	2046162	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:83648	"" []	3196241	\N	\N	EFO	5	EFO	genetic disorder	X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:83648	"" []	4401935	\N	\N	EFO	6	EFO	disease	X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:83648	"" []	5418117	\N	\N	EFO	7	EFO	disposition	X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:83648	"" []	6152811	\N	\N	EFO	8	EFO	material property	X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:83648	"" []	6634185	\N	\N	EFO	9	EFO	experimental factor	X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction
Orphanet:839	\N	\N	"" []	Orphanet:839	"" []	78126	\N	\N	EFO	0	EFO	Congenital nephrotic syndrome, Finnish type	Congenital nephrotic syndrome, Finnish type
Orphanet:97556	Orphanet:839	\N	"" []	Orphanet:839	"" []	222653	\N	\N	EFO	1	EFO	Congenital and infantile nephrotic syndrome	Congenital nephrotic syndrome, Finnish type
Orphanet:102373	Orphanet:97556	\N	"" []	Orphanet:839	"" []	578943	\N	\N	EFO	2	EFO	Primary glomerular disease	Congenital nephrotic syndrome, Finnish type
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:839	"" []	1162551	\N	\N	EFO	3	EFO	Genetic glomerular disease	Congenital nephrotic syndrome, Finnish type
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:839	"" []	2046163	\N	\N	EFO	4	EFO	Rare genetic renal disease	Congenital nephrotic syndrome, Finnish type
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:839	"" []	3196242	\N	\N	EFO	5	EFO	genetic disorder	Congenital nephrotic syndrome, Finnish type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:839	"" []	4401936	\N	\N	EFO	6	EFO	disease	Congenital nephrotic syndrome, Finnish type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:839	"" []	5418118	\N	\N	EFO	7	EFO	disposition	Congenital nephrotic syndrome, Finnish type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:839	"" []	6152812	\N	\N	EFO	8	EFO	material property	Congenital nephrotic syndrome, Finnish type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:839	"" []	6634186	\N	\N	EFO	9	EFO	experimental factor	Congenital nephrotic syndrome, Finnish type
Orphanet:84	\N	\N	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	78127	\N	\N	EFO	0	EFO	Fanconi anemia	Fanconi anemia
Orphanet:183422	Orphanet:84	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	222654	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Fanconi anemia
Orphanet:183466	Orphanet:84	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	222655	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Fanconi anemia
Orphanet:330206	Orphanet:84	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	222656	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Fanconi anemia
Orphanet:404574	Orphanet:84	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	222657	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Fanconi anemia
Orphanet:68383	Orphanet:84	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	222658	\N	\N	EFO	1	EFO	Rare constitutional medullar aplasia	Fanconi anemia
Orphanet:93614	Orphanet:84	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	222659	\N	\N	EFO	1	EFO	Hematological disorder with renal involvement	Fanconi anemia
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	578944	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Fanconi anemia
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	578945	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Fanconi anemia
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	578946	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Fanconi anemia
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	578947	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Fanconi anemia
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	578948	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Fanconi anemia
Orphanet:182040	Orphanet:68383	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	578949	\N	\N	EFO	2	EFO	Medullar aplasia	Fanconi anemia
EFO:0005803	Orphanet:93614	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	578950	\N	\N	EFO	2	EFO	hematological system disease	Fanconi anemia
Orphanet:98056	Orphanet:93614	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	578951	\N	\N	EFO	2	EFO	Rare genetic renal disease	Fanconi anemia
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	1162552	\N	\N	EFO	3	EFO	genetic disorder	Fanconi anemia
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	1162553	\N	\N	EFO	3	EFO	Rare genetic skin disease	Fanconi anemia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	1162554	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fanconi anemia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	1162555	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Fanconi anemia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	1162556	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Fanconi anemia
Orphanet:183651	Orphanet:182040	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	1162557	\N	\N	EFO	3	EFO	Rare constitutional anemia	Fanconi anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	4401939	\N	\N	EFO	6	EFO	disease	Fanconi anemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	1162559	\N	\N	EFO	3	EFO	genetic disorder	Fanconi anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	5060279	\N	\N	EFO	7	EFO	disease	Fanconi anemia
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	2046165	\N	\N	EFO	4	EFO	genetic disorder	Fanconi anemia
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	2046166	\N	\N	EFO	4	EFO	skin disease	Fanconi anemia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	4401938	\N	\N	EFO	6	EFO	genetic disorder	Fanconi anemia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	2046168	\N	\N	EFO	4	EFO	Rare genetic bone disease	Fanconi anemia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	2046169	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Fanconi anemia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	2046170	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Fanconi anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	2046171	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Fanconi anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	5817871	\N	\N	EFO	8	EFO	disposition	Fanconi anemia
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	3196245	\N	\N	EFO	5	EFO	disease	Fanconi anemia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	3196246	\N	\N	EFO	5	EFO	genetic disorder	Fanconi anemia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	3196247	\N	\N	EFO	5	EFO	bone disease	Fanconi anemia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	3196248	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Fanconi anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	3196250	\N	\N	EFO	5	EFO	genetic disorder	Fanconi anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	3196251	\N	\N	EFO	5	EFO	hematological system disease	Fanconi anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	6378998	\N	\N	EFO	9	EFO	material property	Fanconi anemia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	4401937	\N	\N	EFO	6	EFO	skeletal system disease	Fanconi anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	6778834	\N	\N	EFO	10	EFO	experimental factor	Fanconi anemia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84	"Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." []	5418119	\N	\N	EFO	7	EFO	disease	Fanconi anemia
Orphanet:84064	\N	\N	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	78128	\N	\N	EFO	0	EFO	Syndromic diarrhea	Syndromic diarrhea
Orphanet:156604	Orphanet:84064	\N	"" []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	222660	\N	\N	EFO	1	EFO	Genetic parenchymatous liver disease	Syndromic diarrhea
Orphanet:363300	Orphanet:84064	\N	"" []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	222661	\N	\N	EFO	1	EFO	Genetic intractable diarrhea of infancy	Syndromic diarrhea
Orphanet:156601	Orphanet:156604	\N	"" []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	578952	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Syndromic diarrhea
Orphanet:165655	Orphanet:363300	\N	"" []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	578953	\N	\N	EFO	2	EFO	Genetic intestinal disease	Syndromic diarrhea
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	1162560	\N	\N	EFO	3	EFO	digestive system disease	Syndromic diarrhea
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	1162561	\N	\N	EFO	3	EFO	genetic disorder	Syndromic diarrhea
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	1162562	\N	\N	EFO	3	EFO	digestive system disease	Syndromic diarrhea
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	1162563	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Syndromic diarrhea
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	2046173	\N	\N	EFO	4	EFO	disease	Syndromic diarrhea
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	3196254	\N	\N	EFO	5	EFO	disease	Syndromic diarrhea
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	2046175	\N	\N	EFO	4	EFO	genetic disorder	Syndromic diarrhea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	4134381	\N	\N	EFO	6	EFO	disposition	Syndromic diarrhea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	5183387	\N	\N	EFO	7	EFO	material property	Syndromic diarrhea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:84064	"Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." []	5998725	\N	\N	EFO	8	EFO	experimental factor	Syndromic diarrhea
Orphanet:84081	\N	\N	"" []	Orphanet:84081	"" []	78129	\N	\N	EFO	0	EFO	Senior-Boichis syndrome	Senior-Boichis syndrome
Orphanet:93587	Orphanet:84081	\N	"" []	Orphanet:84081	"" []	222662	\N	\N	EFO	1	EFO	Familial cystic renal disease	Senior-Boichis syndrome
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:84081	"" []	578954	\N	\N	EFO	2	EFO	kidney disease	Senior-Boichis syndrome
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:84081	"" []	578955	\N	\N	EFO	2	EFO	Rare genetic renal disease	Senior-Boichis syndrome
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84081	"" []	1162564	\N	\N	EFO	3	EFO	disease	Senior-Boichis syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84081	"" []	1162565	\N	\N	EFO	3	EFO	genetic disorder	Senior-Boichis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:84081	"" []	3196256	\N	\N	EFO	5	EFO	disposition	Senior-Boichis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84081	"" []	2046177	\N	\N	EFO	4	EFO	disease	Senior-Boichis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:84081	"" []	4134382	\N	\N	EFO	6	EFO	material property	Senior-Boichis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:84081	"" []	5183388	\N	\N	EFO	7	EFO	experimental factor	Senior-Boichis syndrome
Orphanet:84090	\N	\N	"Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." []	Orphanet:84090	"Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." []	78130	\N	\N	EFO	0	EFO	Fibronectin glomerulopathy	Fibronectin glomerulopathy
Orphanet:102373	Orphanet:84090	\N	"" []	Orphanet:84090	"Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." []	222663	\N	\N	EFO	1	EFO	Primary glomerular disease	Fibronectin glomerulopathy
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:84090	"Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." []	578956	\N	\N	EFO	2	EFO	Genetic glomerular disease	Fibronectin glomerulopathy
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:84090	"Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." []	1162566	\N	\N	EFO	3	EFO	Rare genetic renal disease	Fibronectin glomerulopathy
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84090	"Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." []	2046178	\N	\N	EFO	4	EFO	genetic disorder	Fibronectin glomerulopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84090	"Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." []	3196257	\N	\N	EFO	5	EFO	disease	Fibronectin glomerulopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:84090	"Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." []	4401943	\N	\N	EFO	6	EFO	disposition	Fibronectin glomerulopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:84090	"Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." []	5418121	\N	\N	EFO	7	EFO	material property	Fibronectin glomerulopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:84090	"Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." []	6152813	\N	\N	EFO	8	EFO	experimental factor	Fibronectin glomerulopathy
Orphanet:84093	\N	\N	"" []	Orphanet:84093	"" []	78131	\N	\N	EFO	0	EFO	Hereditary thermosensitive neuropathy	Hereditary thermosensitive neuropathy
Orphanet:140453	Orphanet:84093	\N	"" []	Orphanet:84093	"" []	222664	\N	\N	EFO	1	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Hereditary thermosensitive neuropathy
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:84093	"" []	578957	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Hereditary thermosensitive neuropathy
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:84093	"" []	1162567	\N	\N	EFO	3	EFO	motor neuron disease	Hereditary thermosensitive neuropathy
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:84093	"" []	1162568	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary thermosensitive neuropathy
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:84093	"" []	2046179	\N	\N	EFO	4	EFO	neurodegenerative disease	Hereditary thermosensitive neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:84093	"" []	2046180	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary thermosensitive neuropathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:84093	"" []	3196258	\N	\N	EFO	5	EFO	nervous system disease	Hereditary thermosensitive neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84093	"" []	3196259	\N	\N	EFO	5	EFO	genetic disorder	Hereditary thermosensitive neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84093	"" []	4401944	\N	\N	EFO	6	EFO	disease	Hereditary thermosensitive neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84093	"" []	4401945	\N	\N	EFO	6	EFO	disease	Hereditary thermosensitive neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:84093	"" []	5418122	\N	\N	EFO	7	EFO	disposition	Hereditary thermosensitive neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:84093	"" []	6152814	\N	\N	EFO	8	EFO	material property	Hereditary thermosensitive neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:84093	"" []	6634187	\N	\N	EFO	9	EFO	experimental factor	Hereditary thermosensitive neuropathy
Orphanet:84096	\N	\N	"" []	Orphanet:84096	"" []	78132	\N	\N	EFO	0	EFO	Unknown leukodystrophy	Unknown leukodystrophy
Orphanet:68356	Orphanet:84096	\N	"" []	Orphanet:84096	"" []	222665	\N	\N	EFO	1	EFO	Leukodystrophy	Unknown leukodystrophy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:84096	"" []	578958	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Unknown leukodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84096	"" []	1162569	\N	\N	EFO	3	EFO	genetic disorder	Unknown leukodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84096	"" []	2046181	\N	\N	EFO	4	EFO	disease	Unknown leukodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:84096	"" []	3196260	\N	\N	EFO	5	EFO	disposition	Unknown leukodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:84096	"" []	4401946	\N	\N	EFO	6	EFO	material property	Unknown leukodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:84096	"" []	5418123	\N	\N	EFO	7	EFO	experimental factor	Unknown leukodystrophy
Orphanet:841	\N	\N	"" []	Orphanet:841	"" []	78133	\N	\N	EFO	0	EFO	Sebocystomatosis	Sebocystomatosis
Orphanet:183460	Orphanet:841	\N	"" []	Orphanet:841	"" []	222666	\N	\N	EFO	1	EFO	Genetic sebaceous gland anomaly	Sebocystomatosis
Orphanet:183447	Orphanet:183460	\N	"" []	Orphanet:841	"" []	578959	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Sebocystomatosis
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:841	"" []	1162570	\N	\N	EFO	3	EFO	Rare genetic skin disease	Sebocystomatosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:841	"" []	2046182	\N	\N	EFO	4	EFO	genetic disorder	Sebocystomatosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:841	"" []	2046183	\N	\N	EFO	4	EFO	skin disease	Sebocystomatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:841	"" []	3196261	\N	\N	EFO	5	EFO	disease	Sebocystomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:841	"" []	3196262	\N	\N	EFO	5	EFO	disease	Sebocystomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:841	"" []	4401947	\N	\N	EFO	6	EFO	disposition	Sebocystomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:841	"" []	5418124	\N	\N	EFO	7	EFO	material property	Sebocystomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:841	"" []	6152815	\N	\N	EFO	8	EFO	experimental factor	Sebocystomatosis
Orphanet:84132	\N	\N	"" []	Orphanet:84132	"" []	78134	\N	\N	EFO	0	EFO	Desmin-related myopathy with Mallory body-like inclusions	Desmin-related myopathy with Mallory body-like inclusions
Orphanet:206662	Orphanet:84132	\N	"" []	Orphanet:84132	"" []	222667	\N	\N	EFO	1	EFO	Inclusion myopathy	Desmin-related myopathy with Mallory body-like inclusions
Orphanet:209041	Orphanet:84132	\N	"" []	Orphanet:84132	"" []	222668	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of desmin	Desmin-related myopathy with Mallory body-like inclusions
Orphanet:209193	Orphanet:84132	\N	"" []	Orphanet:84132	"" []	222669	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of selenoprotein N1	Desmin-related myopathy with Mallory body-like inclusions
Orphanet:206656	Orphanet:206662	\N	"" []	Orphanet:84132	"" []	578960	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Desmin-related myopathy with Mallory body-like inclusions
Orphanet:209038	Orphanet:209041	\N	"" []	Orphanet:84132	"" []	578961	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of myofibrillar proteins	Desmin-related myopathy with Mallory body-like inclusions
Orphanet:207049	Orphanet:209193	\N	"" []	Orphanet:84132	"" []	578962	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Desmin-related myopathy with Mallory body-like inclusions
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:84132	"" []	1162571	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Desmin-related myopathy with Mallory body-like inclusions
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:84132	"" []	1162572	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Desmin-related myopathy with Mallory body-like inclusions
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:84132	"" []	2046185	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Desmin-related myopathy with Mallory body-like inclusions
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:84132	"" []	2046184	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Desmin-related myopathy with Mallory body-like inclusions
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:84132	"" []	3000456	\N	\N	EFO	5	EFO	muscular disease	Desmin-related myopathy with Mallory body-like inclusions
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:84132	"" []	3000457	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Desmin-related myopathy with Mallory body-like inclusions
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:84132	"" []	4134383	\N	\N	EFO	6	EFO	skeletal system disease	Desmin-related myopathy with Mallory body-like inclusions
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84132	"" []	4134384	\N	\N	EFO	6	EFO	genetic disorder	Desmin-related myopathy with Mallory body-like inclusions
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84132	"" []	5183389	\N	\N	EFO	7	EFO	disease	Desmin-related myopathy with Mallory body-like inclusions
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84132	"" []	5183390	\N	\N	EFO	7	EFO	disease	Desmin-related myopathy with Mallory body-like inclusions
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:84132	"" []	5998726	\N	\N	EFO	8	EFO	disposition	Desmin-related myopathy with Mallory body-like inclusions
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:84132	"" []	6551768	\N	\N	EFO	9	EFO	material property	Desmin-related myopathy with Mallory body-like inclusions
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:84132	"" []	6889546	\N	\N	EFO	10	EFO	experimental factor	Desmin-related myopathy with Mallory body-like inclusions
Orphanet:84271	\N	\N	"" []	Orphanet:84271	"" []	78135	\N	\N	EFO	0	EFO	Sporadic idiopathic steroid-resistant nephrotic syndrome	Sporadic idiopathic steroid-resistant nephrotic syndrome
Orphanet:102373	Orphanet:84271	\N	"" []	Orphanet:84271	"" []	222670	\N	\N	EFO	1	EFO	Primary glomerular disease	Sporadic idiopathic steroid-resistant nephrotic syndrome
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:84271	"" []	578963	\N	\N	EFO	2	EFO	Genetic glomerular disease	Sporadic idiopathic steroid-resistant nephrotic syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:84271	"" []	1162574	\N	\N	EFO	3	EFO	Rare genetic renal disease	Sporadic idiopathic steroid-resistant nephrotic syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:84271	"" []	2046188	\N	\N	EFO	4	EFO	genetic disorder	Sporadic idiopathic steroid-resistant nephrotic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:84271	"" []	3196265	\N	\N	EFO	5	EFO	disease	Sporadic idiopathic steroid-resistant nephrotic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:84271	"" []	4401950	\N	\N	EFO	6	EFO	disposition	Sporadic idiopathic steroid-resistant nephrotic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:84271	"" []	5418126	\N	\N	EFO	7	EFO	material property	Sporadic idiopathic steroid-resistant nephrotic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:84271	"" []	6152817	\N	\N	EFO	8	EFO	experimental factor	Sporadic idiopathic steroid-resistant nephrotic syndrome
Orphanet:844	\N	\N	"Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." []	Orphanet:844	"Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." []	78136	\N	\N	EFO	0	EFO	Atrial tachyarrhythmia with short PR interval	Atrial tachyarrhythmia with short PR interval
Orphanet:101934	Orphanet:844	\N	"" []	Orphanet:844	"Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." []	222671	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Atrial tachyarrhythmia with short PR interval
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:844	"Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." []	578964	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Atrial tachyarrhythmia with short PR interval
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:844	"Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." []	1162575	\N	\N	EFO	3	EFO	genetic disorder	Atrial tachyarrhythmia with short PR interval
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:844	"Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." []	1162576	\N	\N	EFO	3	EFO	heart disease	Atrial tachyarrhythmia with short PR interval
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:844	"Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." []	2046189	\N	\N	EFO	4	EFO	disease	Atrial tachyarrhythmia with short PR interval
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:844	"Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." []	2046190	\N	\N	EFO	4	EFO	cardiovascular disease	Atrial tachyarrhythmia with short PR interval
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:844	"Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." []	4401952	\N	\N	EFO	6	EFO	disposition	Atrial tachyarrhythmia with short PR interval
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:844	"Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." []	3196267	\N	\N	EFO	5	EFO	disease	Atrial tachyarrhythmia with short PR interval
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:844	"Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." []	5183391	\N	\N	EFO	7	EFO	material property	Atrial tachyarrhythmia with short PR interval
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:844	"Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." []	5998727	\N	\N	EFO	8	EFO	experimental factor	Atrial tachyarrhythmia with short PR interval
Orphanet:845	\N	\N	"" []	Orphanet:845	"" []	78137	\N	\N	EFO	0	EFO	Tay-Sachs disease	Tay-Sachs disease
Orphanet:207018	Orphanet:845	\N	"" []	Orphanet:845	"" []	222672	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Tay-Sachs disease
Orphanet:309152	Orphanet:845	\N	"A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." []	Orphanet:845	"" []	222673	\N	\N	EFO	1	EFO	GM2 gangliosidosis	Tay-Sachs disease
Orphanet:98714	Orphanet:845	\N	"" []	Orphanet:845	"" []	222674	\N	\N	EFO	1	EFO	Metabolic disease with macular cherry-red spot	Tay-Sachs disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:845	"" []	578965	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Tay-Sachs disease
Orphanet:183500	Orphanet:309152	\N	"" []	Orphanet:845	"" []	578966	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Tay-Sachs disease
Orphanet:309144	Orphanet:309152	\N	"" []	Orphanet:845	"" []	578967	\N	\N	EFO	2	EFO	Gangliosidosis	Tay-Sachs disease
Orphanet:68385	Orphanet:309152	\N	"" []	Orphanet:845	"" []	578968	\N	\N	EFO	2	EFO	Neurometabolic disease	Tay-Sachs disease
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:845	"" []	578969	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Tay-Sachs disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:845	"" []	1162577	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Tay-Sachs disease
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:845	"" []	1162578	\N	\N	EFO	3	EFO	neurodegenerative disease	Tay-Sachs disease
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:845	"" []	1162579	\N	\N	EFO	3	EFO	brain disease	Tay-Sachs disease
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:845	"" []	1162580	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Tay-Sachs disease
Orphanet:79225	Orphanet:309144	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:845	"" []	1162581	\N	\N	EFO	3	EFO	Sphingolipidosis	Tay-Sachs disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:845	"" []	1162582	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Tay-Sachs disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:845	"" []	1162583	\N	\N	EFO	3	EFO	Rare genetic eye disease	Tay-Sachs disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:845	"" []	2046191	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Tay-Sachs disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:845	"" []	2046192	\N	\N	EFO	4	EFO	nervous system disease	Tay-Sachs disease
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:845	"" []	2046193	\N	\N	EFO	4	EFO	nervous system disease	Tay-Sachs disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:845	"" []	3196268	\N	\N	EFO	5	EFO	genetic disorder	Tay-Sachs disease
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:845	"" []	2046195	\N	\N	EFO	4	EFO	Lysosomal disease	Tay-Sachs disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:845	"" []	2046196	\N	\N	EFO	4	EFO	genetic disorder	Tay-Sachs disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:845	"" []	2046197	\N	\N	EFO	4	EFO	eye disease	Tay-Sachs disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:845	"" []	3196269	\N	\N	EFO	5	EFO	disease	Tay-Sachs disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:845	"" []	5418129	\N	\N	EFO	7	EFO	disease	Tay-Sachs disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:845	"" []	3196271	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Tay-Sachs disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:845	"" []	3196272	\N	\N	EFO	5	EFO	disease	Tay-Sachs disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:845	"" []	5877764	\N	\N	EFO	8	EFO	disposition	Tay-Sachs disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:845	"" []	4401954	\N	\N	EFO	6	EFO	genetic disorder	Tay-Sachs disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:845	"" []	4401955	\N	\N	EFO	6	EFO	metabolic disease	Tay-Sachs disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:845	"" []	6470982	\N	\N	EFO	9	EFO	material property	Tay-Sachs disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:845	"" []	5418130	\N	\N	EFO	7	EFO	disease	Tay-Sachs disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:845	"" []	6848823	\N	\N	EFO	10	EFO	experimental factor	Tay-Sachs disease
Orphanet:846	\N	\N	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	78138	\N	\N	EFO	0	EFO	Alpha-thalassemia	Alpha-thalassemia
Orphanet:275745	Orphanet:846	\N	"" []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	222675	\N	\N	EFO	1	EFO	Alpha-thalassemia and related diseases	Alpha-thalassemia
Orphanet:93614	Orphanet:846	\N	"" []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	222676	\N	\N	EFO	1	EFO	Hematological disorder with renal involvement	Alpha-thalassemia
EFO:1001996	Orphanet:275745	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	578970	\N	\N	EFO	2	EFO	Thalassemia	Alpha-thalassemia
EFO:0005803	Orphanet:93614	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	578971	\N	\N	EFO	2	EFO	hematological system disease	Alpha-thalassemia
Orphanet:98056	Orphanet:93614	\N	"" []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	578972	\N	\N	EFO	2	EFO	Rare genetic renal disease	Alpha-thalassemia
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	1162584	\N	\N	EFO	3	EFO	Hemoglobinopathy	Alpha-thalassemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	5418132	\N	\N	EFO	7	EFO	disease	Alpha-thalassemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	1162586	\N	\N	EFO	3	EFO	genetic disorder	Alpha-thalassemia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	2046198	\N	\N	EFO	4	EFO	Rare constitutional anemia	Alpha-thalassemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	5801892	\N	\N	EFO	8	EFO	disposition	Alpha-thalassemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	5418131	\N	\N	EFO	7	EFO	disease	Alpha-thalassemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	3196273	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Alpha-thalassemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	6378999	\N	\N	EFO	9	EFO	material property	Alpha-thalassemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	4401956	\N	\N	EFO	6	EFO	genetic disorder	Alpha-thalassemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	4401957	\N	\N	EFO	6	EFO	hematological system disease	Alpha-thalassemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:846	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	6778835	\N	\N	EFO	10	EFO	experimental factor	Alpha-thalassemia
Orphanet:847	\N	\N	"" []	Orphanet:847	"" []	78139	\N	\N	EFO	0	EFO	Alpha-thalassemia - X-linked intellectual disability syndrome	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:232288	Orphanet:847	\N	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	Orphanet:847	"" []	222677	\N	\N	EFO	1	EFO	Alpha-thalassemia-related diseases	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:263355	Orphanet:847	\N	"" []	Orphanet:847	"" []	222678	\N	\N	EFO	1	EFO	ATR-X-related syndrome	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:325638	Orphanet:847	\N	"" []	Orphanet:847	"" []	222679	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:98087	Orphanet:847	\N	"" []	Orphanet:847	"" []	222680	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:275745	Orphanet:232288	\N	"" []	Orphanet:847	"" []	578973	\N	\N	EFO	2	EFO	Alpha-thalassemia and related diseases	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:102283	Orphanet:263355	\N	"" []	Orphanet:847	"" []	578974	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:98464	Orphanet:263355	\N	"" []	Orphanet:847	"" []	578975	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:847	"" []	578976	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:847	"" []	578977	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:1001996	Orphanet:275745	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:847	"" []	1162587	\N	\N	EFO	3	EFO	Thalassemia	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:847	"" []	1162588	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:847	"" []	1162589	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:847	"" []	1162590	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:847	"" []	1162591	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:847	"" []	2046201	\N	\N	EFO	4	EFO	Hemoglobinopathy	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:847	"" []	2046202	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:847	"" []	2046203	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:847	"" []	2046204	\N	\N	EFO	4	EFO	genetic disorder	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:847	"" []	2046205	\N	\N	EFO	4	EFO	reproductive system disease	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:847	"" []	2046206	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:847	"" []	2046207	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:847	"" []	2046208	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:847	"" []	3196276	\N	\N	EFO	5	EFO	Rare constitutional anemia	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:847	"" []	3196277	\N	\N	EFO	5	EFO	genetic disorder	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:847	"" []	3196278	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:847	"" []	6152819	\N	\N	EFO	8	EFO	disease	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:847	"" []	3196280	\N	\N	EFO	5	EFO	disease	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:847	"" []	3196281	\N	\N	EFO	5	EFO	genetic disorder	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:847	"" []	3196282	\N	\N	EFO	5	EFO	genetic disorder	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:847	"" []	3196283	\N	\N	EFO	5	EFO	endocrine system disease	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:847	"" []	4401959	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:847	"" []	4401961	\N	\N	EFO	6	EFO	genetic disorder	Alpha-thalassemia - X-linked intellectual disability syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:847	"" []	6410372	\N	\N	EFO	9	EFO	disposition	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:847	"" []	4401963	\N	\N	EFO	6	EFO	disease	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:847	"" []	5418133	\N	\N	EFO	7	EFO	genetic disorder	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:847	"" []	5418134	\N	\N	EFO	7	EFO	hematological system disease	Alpha-thalassemia - X-linked intellectual disability syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:847	"" []	6808181	\N	\N	EFO	10	EFO	material property	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:847	"" []	6152820	\N	\N	EFO	8	EFO	disease	Alpha-thalassemia - X-linked intellectual disability syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:847	"" []	7048810	\N	\N	EFO	11	EFO	experimental factor	Alpha-thalassemia - X-linked intellectual disability syndrome
Orphanet:848	\N	\N	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	78140	\N	\N	EFO	0	EFO	Beta-thalassemia	Beta-thalassemia
Orphanet:275749	Orphanet:848	\N	"" []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	222681	\N	\N	EFO	1	EFO	Beta-thalassemia and related diseases	Beta-thalassemia
Orphanet:93614	Orphanet:848	\N	"" []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	222682	\N	\N	EFO	1	EFO	Hematological disorder with renal involvement	Beta-thalassemia
EFO:1001996	Orphanet:275749	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	578978	\N	\N	EFO	2	EFO	Thalassemia	Beta-thalassemia
EFO:0005803	Orphanet:93614	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	578979	\N	\N	EFO	2	EFO	hematological system disease	Beta-thalassemia
Orphanet:98056	Orphanet:93614	\N	"" []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	578980	\N	\N	EFO	2	EFO	Rare genetic renal disease	Beta-thalassemia
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	1162592	\N	\N	EFO	3	EFO	Hemoglobinopathy	Beta-thalassemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	5418138	\N	\N	EFO	7	EFO	disease	Beta-thalassemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	1162594	\N	\N	EFO	3	EFO	genetic disorder	Beta-thalassemia
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	2046209	\N	\N	EFO	4	EFO	Rare constitutional anemia	Beta-thalassemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	5801893	\N	\N	EFO	8	EFO	disposition	Beta-thalassemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	5418137	\N	\N	EFO	7	EFO	disease	Beta-thalassemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	3196284	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Beta-thalassemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	6379000	\N	\N	EFO	9	EFO	material property	Beta-thalassemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	4401964	\N	\N	EFO	6	EFO	genetic disorder	Beta-thalassemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	4401965	\N	\N	EFO	6	EFO	hematological system disease	Beta-thalassemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:848	"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." []	6778836	\N	\N	EFO	10	EFO	experimental factor	Beta-thalassemia
Orphanet:849	\N	\N	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	Orphanet:849	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	78141	\N	\N	EFO	0	EFO	Glanzmann thrombasthenia	Glanzmann thrombasthenia
Orphanet:275729	Orphanet:849	\N	"" []	Orphanet:849	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	222683	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Glanzmann thrombasthenia
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:849	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	578981	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Glanzmann thrombasthenia
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:849	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	1162595	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Glanzmann thrombasthenia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:849	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	2046212	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Glanzmann thrombasthenia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:849	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	3196287	\N	\N	EFO	5	EFO	genetic disorder	Glanzmann thrombasthenia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:849	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	3196288	\N	\N	EFO	5	EFO	hematological system disease	Glanzmann thrombasthenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:849	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	4401967	\N	\N	EFO	6	EFO	disease	Glanzmann thrombasthenia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:849	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	4401968	\N	\N	EFO	6	EFO	disease	Glanzmann thrombasthenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:849	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	5418139	\N	\N	EFO	7	EFO	disposition	Glanzmann thrombasthenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:849	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	6152822	\N	\N	EFO	8	EFO	material property	Glanzmann thrombasthenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:849	"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." []	6634189	\N	\N	EFO	9	EFO	experimental factor	Glanzmann thrombasthenia
Orphanet:85	\N	\N	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	Orphanet:85	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	78142	\N	\N	EFO	0	EFO	Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia
Orphanet:293830	Orphanet:85	\N	"" []	Orphanet:85	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	222684	\N	\N	EFO	1	EFO	Constitutional dyserythropoietic anemia	Congenital dyserythropoietic anemia
Orphanet:183651	Orphanet:293830	\N	"" []	Orphanet:85	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	578982	\N	\N	EFO	2	EFO	Rare constitutional anemia	Congenital dyserythropoietic anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:85	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	1162596	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Congenital dyserythropoietic anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	2046213	\N	\N	EFO	4	EFO	genetic disorder	Congenital dyserythropoietic anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:85	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	2046214	\N	\N	EFO	4	EFO	hematological system disease	Congenital dyserythropoietic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	3196289	\N	\N	EFO	5	EFO	disease	Congenital dyserythropoietic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	3196290	\N	\N	EFO	5	EFO	disease	Congenital dyserythropoietic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	4401969	\N	\N	EFO	6	EFO	disposition	Congenital dyserythropoietic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	5418140	\N	\N	EFO	7	EFO	material property	Congenital dyserythropoietic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	6152823	\N	\N	EFO	8	EFO	experimental factor	Congenital dyserythropoietic anemia
Orphanet:851	\N	\N	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	78143	\N	\N	EFO	0	EFO	Paris-Trousseau thrombocytopenia	Paris-Trousseau thrombocytopenia
Orphanet:262092	Orphanet:851	\N	"" []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	222685	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 11	Paris-Trousseau thrombocytopenia
Orphanet:275729	Orphanet:851	\N	"" []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	222686	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Paris-Trousseau thrombocytopenia
Orphanet:261816	Orphanet:262092	\N	"" []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	578983	\N	\N	EFO	2	EFO	Partial deletion of chromosome 11	Paris-Trousseau thrombocytopenia
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	578984	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Paris-Trousseau thrombocytopenia
Orphanet:98142	Orphanet:261816	\N	"" []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	1162597	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Paris-Trousseau thrombocytopenia
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	1162598	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Paris-Trousseau thrombocytopenia
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	2046215	\N	\N	EFO	4	EFO	Autosomal monosomy	Paris-Trousseau thrombocytopenia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	2046216	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Paris-Trousseau thrombocytopenia
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	3196291	\N	\N	EFO	5	EFO	Autosomal anomaly	Paris-Trousseau thrombocytopenia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	3196292	\N	\N	EFO	5	EFO	genetic disorder	Paris-Trousseau thrombocytopenia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	3196293	\N	\N	EFO	5	EFO	hematological system disease	Paris-Trousseau thrombocytopenia
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	4401970	\N	\N	EFO	6	EFO	Chromosomal anomaly	Paris-Trousseau thrombocytopenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	6152824	\N	\N	EFO	8	EFO	disease	Paris-Trousseau thrombocytopenia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	4401972	\N	\N	EFO	6	EFO	disease	Paris-Trousseau thrombocytopenia
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	5418141	\N	\N	EFO	7	EFO	genetic disorder	Paris-Trousseau thrombocytopenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	6470984	\N	\N	EFO	9	EFO	disposition	Paris-Trousseau thrombocytopenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	6848825	\N	\N	EFO	10	EFO	material property	Paris-Trousseau thrombocytopenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:851	"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." []	7068537	\N	\N	EFO	11	EFO	experimental factor	Paris-Trousseau thrombocytopenia
Orphanet:85110	\N	\N	"" []	Orphanet:85110	"" []	78144	\N	\N	EFO	0	EFO	Familial encephalopathy with neuroserpin inclusion bodies	Familial encephalopathy with neuroserpin inclusion bodies
Orphanet:98261	Orphanet:85110	\N	"" []	Orphanet:85110	"" []	222687	\N	\N	EFO	1	EFO	Progressive myoclonic epilepsy	Familial encephalopathy with neuroserpin inclusion bodies
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:85110	"" []	578985	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Familial encephalopathy with neuroserpin inclusion bodies
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:85110	"" []	578986	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Familial encephalopathy with neuroserpin inclusion bodies
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:85110	"" []	1162599	\N	\N	EFO	3	EFO	Epilepsy syndrome	Familial encephalopathy with neuroserpin inclusion bodies
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:85110	"" []	1162600	\N	\N	EFO	3	EFO	Epilepsy syndrome	Familial encephalopathy with neuroserpin inclusion bodies
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:85110	"" []	2046217	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Familial encephalopathy with neuroserpin inclusion bodies
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:85110	"" []	3196294	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Familial encephalopathy with neuroserpin inclusion bodies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85110	"" []	4401973	\N	\N	EFO	6	EFO	genetic disorder	Familial encephalopathy with neuroserpin inclusion bodies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85110	"" []	5418143	\N	\N	EFO	7	EFO	disease	Familial encephalopathy with neuroserpin inclusion bodies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85110	"" []	6152826	\N	\N	EFO	8	EFO	disposition	Familial encephalopathy with neuroserpin inclusion bodies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85110	"" []	6634191	\N	\N	EFO	9	EFO	material property	Familial encephalopathy with neuroserpin inclusion bodies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85110	"" []	6926264	\N	\N	EFO	10	EFO	experimental factor	Familial encephalopathy with neuroserpin inclusion bodies
Orphanet:85112	\N	\N	"" []	Orphanet:85112	"" []	78145	\N	\N	EFO	0	EFO	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:307804	Orphanet:85112	\N	"" []	Orphanet:85112	"" []	222688	\N	\N	EFO	1	EFO	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:325109	Orphanet:85112	\N	"" []	Orphanet:85112	"" []	222689	\N	\N	EFO	1	EFO	Syndrome with 46,XX disorder of sex development	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:325638	Orphanet:85112	\N	"" []	Orphanet:85112	"" []	222690	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:307711	Orphanet:307804	\N	"" []	Orphanet:85112	"" []	578987	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:325697	Orphanet:325109	\N	"" []	Orphanet:85112	"" []	578988	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:85112	"" []	578989	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:85112	"" []	1162601	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:85112	"" []	1162602	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:85112	"" []	1162603	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:85112	"" []	2046218	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:85112	"" []	2046219	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:85112	"" []	2046220	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:85112	"" []	2046221	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85112	"" []	2046222	\N	\N	EFO	4	EFO	genetic disorder	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:85112	"" []	2046223	\N	\N	EFO	4	EFO	reproductive system disease	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:85112	"" []	3196295	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85112	"" []	3196296	\N	\N	EFO	5	EFO	genetic disorder	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85112	"" []	3196297	\N	\N	EFO	5	EFO	genetic disorder	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:85112	"" []	3196298	\N	\N	EFO	5	EFO	endocrine system disease	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85112	"" []	3196299	\N	\N	EFO	5	EFO	genetic disorder	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85112	"" []	6152827	\N	\N	EFO	8	EFO	disease	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85112	"" []	3196301	\N	\N	EFO	5	EFO	disease	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:85112	"" []	4401974	\N	\N	EFO	6	EFO	Rare genetic skin disease	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85112	"" []	4401976	\N	\N	EFO	6	EFO	disease	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85112	"" []	6410373	\N	\N	EFO	9	EFO	disposition	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85112	"" []	5418144	\N	\N	EFO	7	EFO	genetic disorder	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:85112	"" []	5418145	\N	\N	EFO	7	EFO	skin disease	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85112	"" []	6808182	\N	\N	EFO	10	EFO	material property	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85112	"" []	6152828	\N	\N	EFO	8	EFO	disease	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85112	"" []	7048811	\N	\N	EFO	11	EFO	experimental factor	Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Orphanet:85128	\N	\N	"" []	Orphanet:85128	"" []	78146	\N	\N	EFO	0	EFO	Bothnia retinal dystrophy	Bothnia retinal dystrophy
Orphanet:71862	Orphanet:85128	\N	"" []	Orphanet:85128	"" []	222691	\N	\N	EFO	1	EFO	Retinal dystrophy	Bothnia retinal dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:85128	"" []	578990	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Bothnia retinal dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:85128	"" []	1162604	\N	\N	EFO	3	EFO	Rare genetic eye disease	Bothnia retinal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85128	"" []	2046224	\N	\N	EFO	4	EFO	genetic disorder	Bothnia retinal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:85128	"" []	2046225	\N	\N	EFO	4	EFO	eye disease	Bothnia retinal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85128	"" []	3196302	\N	\N	EFO	5	EFO	disease	Bothnia retinal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85128	"" []	3196303	\N	\N	EFO	5	EFO	disease	Bothnia retinal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85128	"" []	4401978	\N	\N	EFO	6	EFO	disposition	Bothnia retinal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85128	"" []	5418147	\N	\N	EFO	7	EFO	material property	Bothnia retinal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85128	"" []	6152830	\N	\N	EFO	8	EFO	experimental factor	Bothnia retinal dystrophy
Orphanet:85136	\N	\N	"" []	Orphanet:85136	"" []	78147	\N	\N	EFO	0	EFO	Cystic leukoencephalopathy without megalencephaly	Cystic leukoencephalopathy without megalencephaly
Orphanet:68356	Orphanet:85136	\N	"" []	Orphanet:85136	"" []	222692	\N	\N	EFO	1	EFO	Leukodystrophy	Cystic leukoencephalopathy without megalencephaly
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:85136	"" []	578991	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Cystic leukoencephalopathy without megalencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85136	"" []	1162605	\N	\N	EFO	3	EFO	genetic disorder	Cystic leukoencephalopathy without megalencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85136	"" []	2046226	\N	\N	EFO	4	EFO	disease	Cystic leukoencephalopathy without megalencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85136	"" []	3196304	\N	\N	EFO	5	EFO	disposition	Cystic leukoencephalopathy without megalencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85136	"" []	4401979	\N	\N	EFO	6	EFO	material property	Cystic leukoencephalopathy without megalencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85136	"" []	5418148	\N	\N	EFO	7	EFO	experimental factor	Cystic leukoencephalopathy without megalencephaly
Orphanet:85146	\N	\N	"" []	Orphanet:85146	"" []	78148	\N	\N	EFO	0	EFO	Scapuloperoneal amyotrophy	Scapuloperoneal amyotrophy
Orphanet:209185	Orphanet:85146	\N	"" []	Orphanet:85146	"" []	222693	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	Scapuloperoneal amyotrophy
Orphanet:98505	Orphanet:85146	\N	"" []	Orphanet:85146	"" []	222694	\N	\N	EFO	1	EFO	Genetic motor neuron disease	Scapuloperoneal amyotrophy
Orphanet:207049	Orphanet:209185	\N	"" []	Orphanet:85146	"" []	578992	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Scapuloperoneal amyotrophy
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:85146	"" []	578993	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Scapuloperoneal amyotrophy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:85146	"" []	1162606	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Scapuloperoneal amyotrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:85146	"" []	2046227	\N	\N	EFO	4	EFO	muscular disease	Scapuloperoneal amyotrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:85146	"" []	2046228	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Scapuloperoneal amyotrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85146	"" []	3000458	\N	\N	EFO	5	EFO	skeletal system disease	Scapuloperoneal amyotrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85146	"" []	3000459	\N	\N	EFO	5	EFO	genetic disorder	Scapuloperoneal amyotrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85146	"" []	4134388	\N	\N	EFO	6	EFO	disease	Scapuloperoneal amyotrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85146	"" []	4134389	\N	\N	EFO	6	EFO	disease	Scapuloperoneal amyotrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85146	"" []	5183397	\N	\N	EFO	7	EFO	disposition	Scapuloperoneal amyotrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85146	"" []	5998731	\N	\N	EFO	8	EFO	material property	Scapuloperoneal amyotrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85146	"" []	6551772	\N	\N	EFO	9	EFO	experimental factor	Scapuloperoneal amyotrophy
Orphanet:85162	\N	\N	"" []	Orphanet:85162	"" []	78149	\N	\N	EFO	0	EFO	Facial onset sensory and motor neuronopathy	Facial onset sensory and motor neuronopathy
Orphanet:183500	Orphanet:85162	\N	"" []	Orphanet:85162	"" []	222695	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	Facial onset sensory and motor neuronopathy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:85162	"" []	578994	\N	\N	EFO	2	EFO	neurodegenerative disease	Facial onset sensory and motor neuronopathy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:85162	"" []	578995	\N	\N	EFO	2	EFO	brain disease	Facial onset sensory and motor neuronopathy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:85162	"" []	578996	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Facial onset sensory and motor neuronopathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:85162	"" []	1162609	\N	\N	EFO	3	EFO	nervous system disease	Facial onset sensory and motor neuronopathy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:85162	"" []	1162610	\N	\N	EFO	3	EFO	nervous system disease	Facial onset sensory and motor neuronopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85162	"" []	1162611	\N	\N	EFO	3	EFO	genetic disorder	Facial onset sensory and motor neuronopathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85162	"" []	2046231	\N	\N	EFO	4	EFO	disease	Facial onset sensory and motor neuronopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85162	"" []	2046232	\N	\N	EFO	4	EFO	disease	Facial onset sensory and motor neuronopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85162	"" []	3196307	\N	\N	EFO	5	EFO	disposition	Facial onset sensory and motor neuronopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85162	"" []	4401981	\N	\N	EFO	6	EFO	material property	Facial onset sensory and motor neuronopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85162	"" []	5418150	\N	\N	EFO	7	EFO	experimental factor	Facial onset sensory and motor neuronopathy
Orphanet:85163	\N	\N	"" []	Orphanet:85163	"" []	78150	\N	\N	EFO	0	EFO	Hypomyelination - congenital cataract	Hypomyelination - congenital cataract
Orphanet:183763	Orphanet:85163	\N	"" []	Orphanet:85163	"" []	222696	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Hypomyelination - congenital cataract
Orphanet:68356	Orphanet:85163	\N	"" []	Orphanet:85163	"" []	222697	\N	\N	EFO	1	EFO	Leukodystrophy	Hypomyelination - congenital cataract
Orphanet:98641	Orphanet:85163	\N	"" []	Orphanet:85163	"" []	222698	\N	\N	EFO	1	EFO	Syndromic cataract	Hypomyelination - congenital cataract
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85163	"" []	578997	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Hypomyelination - congenital cataract
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:85163	"" []	578998	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hypomyelination - congenital cataract
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:85163	"" []	578999	\N	\N	EFO	2	EFO	Rare cataract	Hypomyelination - congenital cataract
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85163	"" []	1162612	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hypomyelination - congenital cataract
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85163	"" []	2046233	\N	\N	EFO	4	EFO	genetic disorder	Hypomyelination - congenital cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:85163	"" []	1162614	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Hypomyelination - congenital cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85163	"" []	4401983	\N	\N	EFO	6	EFO	disease	Hypomyelination - congenital cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:85163	"" []	2046235	\N	\N	EFO	4	EFO	Rare genetic eye disease	Hypomyelination - congenital cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85163	"" []	5060281	\N	\N	EFO	7	EFO	disposition	Hypomyelination - congenital cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85163	"" []	3196309	\N	\N	EFO	5	EFO	genetic disorder	Hypomyelination - congenital cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:85163	"" []	3196310	\N	\N	EFO	5	EFO	eye disease	Hypomyelination - congenital cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85163	"" []	5877766	\N	\N	EFO	8	EFO	material property	Hypomyelination - congenital cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85163	"" []	4401984	\N	\N	EFO	6	EFO	disease	Hypomyelination - congenital cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85163	"" []	6470985	\N	\N	EFO	9	EFO	experimental factor	Hypomyelination - congenital cataract
Orphanet:85164	\N	\N	"" []	Orphanet:85164	"" []	78151	\N	\N	EFO	0	EFO	Camptodactyly - tall stature - scoliosis - hearing loss	Camptodactyly - tall stature - scoliosis - hearing loss
Orphanet:93420	Orphanet:85164	\N	"" []	Orphanet:85164	"" []	222699	\N	\N	EFO	1	EFO	FGFR3-related chondrodysplasia	Camptodactyly - tall stature - scoliosis - hearing loss
Orphanet:93454	Orphanet:85164	\N	"" []	Orphanet:85164	"" []	222700	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Camptodactyly - tall stature - scoliosis - hearing loss
Orphanet:364803	Orphanet:93420	\N	"" []	Orphanet:85164	"" []	579000	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Camptodactyly - tall stature - scoliosis - hearing loss
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:85164	"" []	579001	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Camptodactyly - tall stature - scoliosis - hearing loss
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:85164	"" []	1162615	\N	\N	EFO	3	EFO	Rare genetic bone disease	Camptodactyly - tall stature - scoliosis - hearing loss
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:85164	"" []	1162616	\N	\N	EFO	3	EFO	Rare genetic bone disease	Camptodactyly - tall stature - scoliosis - hearing loss
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:85164	"" []	1162617	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Camptodactyly - tall stature - scoliosis - hearing loss
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85164	"" []	2046236	\N	\N	EFO	4	EFO	genetic disorder	Camptodactyly - tall stature - scoliosis - hearing loss
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85164	"" []	2046237	\N	\N	EFO	4	EFO	bone disease	Camptodactyly - tall stature - scoliosis - hearing loss
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85164	"" []	2046238	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Camptodactyly - tall stature - scoliosis - hearing loss
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85164	"" []	4401987	\N	\N	EFO	6	EFO	disease	Camptodactyly - tall stature - scoliosis - hearing loss
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85164	"" []	3196312	\N	\N	EFO	5	EFO	skeletal system disease	Camptodactyly - tall stature - scoliosis - hearing loss
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85164	"" []	3196313	\N	\N	EFO	5	EFO	genetic disorder	Camptodactyly - tall stature - scoliosis - hearing loss
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85164	"" []	5183399	\N	\N	EFO	7	EFO	disposition	Camptodactyly - tall stature - scoliosis - hearing loss
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85164	"" []	4401986	\N	\N	EFO	6	EFO	disease	Camptodactyly - tall stature - scoliosis - hearing loss
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85164	"" []	5998733	\N	\N	EFO	8	EFO	material property	Camptodactyly - tall stature - scoliosis - hearing loss
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85164	"" []	6551773	\N	\N	EFO	9	EFO	experimental factor	Camptodactyly - tall stature - scoliosis - hearing loss
Orphanet:85165	\N	\N	"" []	Orphanet:85165	"" []	78152	\N	\N	EFO	0	EFO	Severe achondroplasia - developmental delay - acanthosis nigricans	Severe achondroplasia - developmental delay - acanthosis nigricans
Orphanet:364536	Orphanet:85165	\N	"" []	Orphanet:85165	"" []	222701	\N	\N	EFO	1	EFO	Primary bone dysplasia with micromelia	Severe achondroplasia - developmental delay - acanthosis nigricans
Orphanet:79360	Orphanet:85165	\N	"" []	Orphanet:85165	"" []	222702	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Severe achondroplasia - developmental delay - acanthosis nigricans
Orphanet:93420	Orphanet:85165	\N	"" []	Orphanet:85165	"" []	222703	\N	\N	EFO	1	EFO	FGFR3-related chondrodysplasia	Severe achondroplasia - developmental delay - acanthosis nigricans
Orphanet:364526	Orphanet:364536	\N	"" []	Orphanet:85165	"" []	579002	\N	\N	EFO	2	EFO	Primary bone dysplasia	Severe achondroplasia - developmental delay - acanthosis nigricans
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:85165	"" []	579003	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Severe achondroplasia - developmental delay - acanthosis nigricans
Orphanet:364803	Orphanet:93420	\N	"" []	Orphanet:85165	"" []	579004	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Severe achondroplasia - developmental delay - acanthosis nigricans
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85165	"" []	1162618	\N	\N	EFO	3	EFO	Rare genetic bone disease	Severe achondroplasia - developmental delay - acanthosis nigricans
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85165	"" []	1162619	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Severe achondroplasia - developmental delay - acanthosis nigricans
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:85165	"" []	1162620	\N	\N	EFO	3	EFO	Rare genetic skin disease	Severe achondroplasia - developmental delay - acanthosis nigricans
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:85165	"" []	1162621	\N	\N	EFO	3	EFO	Rare genetic bone disease	Severe achondroplasia - developmental delay - acanthosis nigricans
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85165	"" []	2046239	\N	\N	EFO	4	EFO	genetic disorder	Severe achondroplasia - developmental delay - acanthosis nigricans
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85165	"" []	2046240	\N	\N	EFO	4	EFO	bone disease	Severe achondroplasia - developmental delay - acanthosis nigricans
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85165	"" []	2046241	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Severe achondroplasia - developmental delay - acanthosis nigricans
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85165	"" []	2046242	\N	\N	EFO	4	EFO	genetic disorder	Severe achondroplasia - developmental delay - acanthosis nigricans
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:85165	"" []	2046243	\N	\N	EFO	4	EFO	skin disease	Severe achondroplasia - developmental delay - acanthosis nigricans
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85165	"" []	4401990	\N	\N	EFO	6	EFO	disease	Severe achondroplasia - developmental delay - acanthosis nigricans
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85165	"" []	3196315	\N	\N	EFO	5	EFO	skeletal system disease	Severe achondroplasia - developmental delay - acanthosis nigricans
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85165	"" []	3196316	\N	\N	EFO	5	EFO	genetic disorder	Severe achondroplasia - developmental delay - acanthosis nigricans
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85165	"" []	3196317	\N	\N	EFO	5	EFO	disease	Severe achondroplasia - developmental delay - acanthosis nigricans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85165	"" []	5183400	\N	\N	EFO	7	EFO	disposition	Severe achondroplasia - developmental delay - acanthosis nigricans
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85165	"" []	4401989	\N	\N	EFO	6	EFO	disease	Severe achondroplasia - developmental delay - acanthosis nigricans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85165	"" []	5998734	\N	\N	EFO	8	EFO	material property	Severe achondroplasia - developmental delay - acanthosis nigricans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85165	"" []	6551774	\N	\N	EFO	9	EFO	experimental factor	Severe achondroplasia - developmental delay - acanthosis nigricans
Orphanet:85166	\N	\N	"" []	Orphanet:85166	"" []	78153	\N	\N	EFO	0	EFO	Platyspondylic dysplasia, Torrance type	Platyspondylic dysplasia, Torrance type
Orphanet:93421	Orphanet:85166	\N	"" []	Orphanet:85166	"" []	222704	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Platyspondylic dysplasia, Torrance type
Orphanet:93434	Orphanet:85166	\N	"" []	Orphanet:85166	"" []	222705	\N	\N	EFO	1	EFO	Spondylodysplastic dysplasia	Platyspondylic dysplasia, Torrance type
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:85166	"" []	579005	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Platyspondylic dysplasia, Torrance type
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:85166	"" []	579006	\N	\N	EFO	2	EFO	Primary bone dysplasia	Platyspondylic dysplasia, Torrance type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:85166	"" []	1162622	\N	\N	EFO	3	EFO	Rare genetic bone disease	Platyspondylic dysplasia, Torrance type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85166	"" []	1162623	\N	\N	EFO	3	EFO	Rare genetic bone disease	Platyspondylic dysplasia, Torrance type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85166	"" []	1162624	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Platyspondylic dysplasia, Torrance type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85166	"" []	2046244	\N	\N	EFO	4	EFO	genetic disorder	Platyspondylic dysplasia, Torrance type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85166	"" []	2046245	\N	\N	EFO	4	EFO	bone disease	Platyspondylic dysplasia, Torrance type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85166	"" []	2046246	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Platyspondylic dysplasia, Torrance type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85166	"" []	4401993	\N	\N	EFO	6	EFO	disease	Platyspondylic dysplasia, Torrance type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85166	"" []	3196319	\N	\N	EFO	5	EFO	skeletal system disease	Platyspondylic dysplasia, Torrance type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85166	"" []	3196320	\N	\N	EFO	5	EFO	genetic disorder	Platyspondylic dysplasia, Torrance type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85166	"" []	5183401	\N	\N	EFO	7	EFO	disposition	Platyspondylic dysplasia, Torrance type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85166	"" []	4401992	\N	\N	EFO	6	EFO	disease	Platyspondylic dysplasia, Torrance type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85166	"" []	5998735	\N	\N	EFO	8	EFO	material property	Platyspondylic dysplasia, Torrance type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85166	"" []	6551775	\N	\N	EFO	9	EFO	experimental factor	Platyspondylic dysplasia, Torrance type
Orphanet:85167	\N	\N	"" []	Orphanet:85167	"" []	78154	\N	\N	EFO	0	EFO	Spondylometaphyseal dysplasia - cone-rod dystrophy	Spondylometaphyseal dysplasia - cone-rod dystrophy
Orphanet:254	Orphanet:85167	\N	"" []	Orphanet:85167	"" []	222706	\N	\N	EFO	1	EFO	Spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia - cone-rod dystrophy
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:85167	"" []	579007	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylometaphyseal dysplasia - cone-rod dystrophy
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85167	"" []	1162625	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia - cone-rod dystrophy
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85167	"" []	1162626	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylometaphyseal dysplasia - cone-rod dystrophy
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85167	"" []	2046247	\N	\N	EFO	4	EFO	genetic disorder	Spondylometaphyseal dysplasia - cone-rod dystrophy
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85167	"" []	2046248	\N	\N	EFO	4	EFO	bone disease	Spondylometaphyseal dysplasia - cone-rod dystrophy
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85167	"" []	2046249	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylometaphyseal dysplasia - cone-rod dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85167	"" []	4401996	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia - cone-rod dystrophy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85167	"" []	3196322	\N	\N	EFO	5	EFO	skeletal system disease	Spondylometaphyseal dysplasia - cone-rod dystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85167	"" []	3196323	\N	\N	EFO	5	EFO	genetic disorder	Spondylometaphyseal dysplasia - cone-rod dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85167	"" []	5183402	\N	\N	EFO	7	EFO	disposition	Spondylometaphyseal dysplasia - cone-rod dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85167	"" []	4401995	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia - cone-rod dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85167	"" []	5998736	\N	\N	EFO	8	EFO	material property	Spondylometaphyseal dysplasia - cone-rod dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85167	"" []	6551776	\N	\N	EFO	9	EFO	experimental factor	Spondylometaphyseal dysplasia - cone-rod dystrophy
Orphanet:85168	\N	\N	"" []	Orphanet:85168	"" []	78155	\N	\N	EFO	0	EFO	Craniofacial conodysplasia	Craniofacial conodysplasia
Orphanet:93436	Orphanet:85168	\N	"" []	Orphanet:85168	"" []	222707	\N	\N	EFO	1	EFO	Acromelic dysplasia	Craniofacial conodysplasia
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:85168	"" []	579008	\N	\N	EFO	2	EFO	Primary bone dysplasia	Craniofacial conodysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85168	"" []	1162627	\N	\N	EFO	3	EFO	Rare genetic bone disease	Craniofacial conodysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85168	"" []	1162628	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Craniofacial conodysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85168	"" []	2046250	\N	\N	EFO	4	EFO	genetic disorder	Craniofacial conodysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85168	"" []	2046251	\N	\N	EFO	4	EFO	bone disease	Craniofacial conodysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85168	"" []	2046252	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniofacial conodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85168	"" []	4401999	\N	\N	EFO	6	EFO	disease	Craniofacial conodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85168	"" []	3196325	\N	\N	EFO	5	EFO	skeletal system disease	Craniofacial conodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85168	"" []	3196326	\N	\N	EFO	5	EFO	genetic disorder	Craniofacial conodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85168	"" []	5183403	\N	\N	EFO	7	EFO	disposition	Craniofacial conodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85168	"" []	4401998	\N	\N	EFO	6	EFO	disease	Craniofacial conodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85168	"" []	5998737	\N	\N	EFO	8	EFO	material property	Craniofacial conodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85168	"" []	6551777	\N	\N	EFO	9	EFO	experimental factor	Craniofacial conodysplasia
Orphanet:85169	\N	\N	"" []	Orphanet:85169	"" []	78156	\N	\N	EFO	0	EFO	Familial digital arthropathy-brachydactyly	Familial digital arthropathy-brachydactyly
Orphanet:364820	Orphanet:85169	\N	"" []	Orphanet:85169	"" []	222708	\N	\N	EFO	1	EFO	TRPV4-related bone disorder	Familial digital arthropathy-brachydactyly
Orphanet:69028	Orphanet:85169	\N	"" []	Orphanet:85169	"" []	222709	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Familial digital arthropathy-brachydactyly
Orphanet:364803	Orphanet:364820	\N	"" []	Orphanet:85169	"" []	579009	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Familial digital arthropathy-brachydactyly
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:85169	"" []	579010	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Familial digital arthropathy-brachydactyly
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:85169	"" []	579011	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Familial digital arthropathy-brachydactyly
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:85169	"" []	1162629	\N	\N	EFO	3	EFO	Rare genetic bone disease	Familial digital arthropathy-brachydactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:85169	"" []	1162630	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Familial digital arthropathy-brachydactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:85169	"" []	1162631	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Familial digital arthropathy-brachydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85169	"" []	3196329	\N	\N	EFO	5	EFO	genetic disorder	Familial digital arthropathy-brachydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85169	"" []	3196330	\N	\N	EFO	5	EFO	bone disease	Familial digital arthropathy-brachydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:85169	"" []	2046255	\N	\N	EFO	4	EFO	Rare genetic bone disease	Familial digital arthropathy-brachydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:85169	"" []	2046256	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Familial digital arthropathy-brachydactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:85169	"" []	2046257	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial digital arthropathy-brachydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85169	"" []	5183406	\N	\N	EFO	7	EFO	disease	Familial digital arthropathy-brachydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85169	"" []	4134392	\N	\N	EFO	6	EFO	skeletal system disease	Familial digital arthropathy-brachydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85169	"" []	3196331	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Familial digital arthropathy-brachydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85169	"" []	4402002	\N	\N	EFO	6	EFO	genetic disorder	Familial digital arthropathy-brachydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85169	"" []	5877767	\N	\N	EFO	8	EFO	disposition	Familial digital arthropathy-brachydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85169	"" []	5183405	\N	\N	EFO	7	EFO	disease	Familial digital arthropathy-brachydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85169	"" []	6470986	\N	\N	EFO	9	EFO	material property	Familial digital arthropathy-brachydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85169	"" []	6848826	\N	\N	EFO	10	EFO	experimental factor	Familial digital arthropathy-brachydactyly
Orphanet:85170	\N	\N	"" []	Orphanet:85170	"" []	78157	\N	\N	EFO	0	EFO	Mesomelic dysplasia, Savarirayan type	Mesomelic dysplasia, Savarirayan type
Orphanet:93438	Orphanet:85170	\N	"" []	Orphanet:85170	"" []	222710	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Mesomelic dysplasia, Savarirayan type
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:85170	"" []	579012	\N	\N	EFO	2	EFO	Primary bone dysplasia	Mesomelic dysplasia, Savarirayan type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85170	"" []	1162632	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mesomelic dysplasia, Savarirayan type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85170	"" []	1162633	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Mesomelic dysplasia, Savarirayan type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85170	"" []	2046258	\N	\N	EFO	4	EFO	genetic disorder	Mesomelic dysplasia, Savarirayan type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85170	"" []	2046259	\N	\N	EFO	4	EFO	bone disease	Mesomelic dysplasia, Savarirayan type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85170	"" []	2046260	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mesomelic dysplasia, Savarirayan type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85170	"" []	4402005	\N	\N	EFO	6	EFO	disease	Mesomelic dysplasia, Savarirayan type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85170	"" []	3196334	\N	\N	EFO	5	EFO	skeletal system disease	Mesomelic dysplasia, Savarirayan type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85170	"" []	3196335	\N	\N	EFO	5	EFO	genetic disorder	Mesomelic dysplasia, Savarirayan type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85170	"" []	5183407	\N	\N	EFO	7	EFO	disposition	Mesomelic dysplasia, Savarirayan type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85170	"" []	4402004	\N	\N	EFO	6	EFO	disease	Mesomelic dysplasia, Savarirayan type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85170	"" []	5998739	\N	\N	EFO	8	EFO	material property	Mesomelic dysplasia, Savarirayan type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85170	"" []	6551779	\N	\N	EFO	9	EFO	experimental factor	Mesomelic dysplasia, Savarirayan type
Orphanet:85172	\N	\N	"" []	Orphanet:85172	"" []	78158	\N	\N	EFO	0	EFO	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:324761	Orphanet:85172	\N	"" []	Orphanet:85172	"" []	222711	\N	\N	EFO	1	EFO	Microcephalic primordial dwarfism	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:102283	Orphanet:324761	\N	"" []	Orphanet:85172	"" []	579013	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:183763	Orphanet:324761	\N	"" []	Orphanet:85172	"" []	579014	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:269528	Orphanet:324761	\N	"" []	Orphanet:85172	"" []	579015	\N	\N	EFO	2	EFO	Syndrome with microcephaly as major feature	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:93440	Orphanet:324761	\N	"" []	Orphanet:85172	"" []	579016	\N	\N	EFO	2	EFO	Slender bone dysplasia	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85172	"" []	1162634	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85172	"" []	1162635	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:85172	"" []	1162636	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:85172	"" []	1162637	\N	\N	EFO	3	EFO	Primary bone dysplasia	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85172	"" []	2046261	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85172	"" []	2046262	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:85172	"" []	2046263	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85172	"" []	2046264	\N	\N	EFO	4	EFO	Rare genetic bone disease	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85172	"" []	2046265	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85172	"" []	4402007	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85172	"" []	4402008	\N	\N	EFO	6	EFO	genetic disorder	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:85172	"" []	3196338	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:85172	"" []	3196339	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85172	"" []	3196340	\N	\N	EFO	5	EFO	genetic disorder	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85172	"" []	3196341	\N	\N	EFO	5	EFO	bone disease	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85172	"" []	3196342	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85172	"" []	5183408	\N	\N	EFO	7	EFO	disease	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85172	"" []	4402009	\N	\N	EFO	6	EFO	skeletal system disease	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85172	"" []	5998740	\N	\N	EFO	8	EFO	disposition	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85172	"" []	5418160	\N	\N	EFO	7	EFO	disease	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85172	"" []	6551780	\N	\N	EFO	9	EFO	material property	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85172	"" []	6889547	\N	\N	EFO	10	EFO	experimental factor	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:85173	\N	\N	"" []	Orphanet:85173	"" []	78159	\N	\N	EFO	0	EFO	IMAGe syndrome	IMAGe syndrome
Orphanet:101960	Orphanet:85173	\N	"" []	Orphanet:85173	"" []	222712	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	IMAGe syndrome
Orphanet:165707	Orphanet:85173	\N	"" []	Orphanet:85173	"" []	222713	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	IMAGe syndrome
Orphanet:93440	Orphanet:85173	\N	"" []	Orphanet:85173	"" []	222714	\N	\N	EFO	1	EFO	Slender bone dysplasia	IMAGe syndrome
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:85173	"" []	579017	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	IMAGe syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:85173	"" []	579018	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	IMAGe syndrome
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:85173	"" []	579019	\N	\N	EFO	2	EFO	Primary bone dysplasia	IMAGe syndrome
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:85173	"" []	1162638	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	IMAGe syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:85173	"" []	1162639	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	IMAGe syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85173	"" []	1162640	\N	\N	EFO	3	EFO	Rare genetic bone disease	IMAGe syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85173	"" []	1162641	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	IMAGe syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85173	"" []	2046266	\N	\N	EFO	4	EFO	genetic disorder	IMAGe syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:85173	"" []	2046267	\N	\N	EFO	4	EFO	endocrine system disease	IMAGe syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85173	"" []	2046268	\N	\N	EFO	4	EFO	genetic disorder	IMAGe syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85173	"" []	2046269	\N	\N	EFO	4	EFO	genetic disorder	IMAGe syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85173	"" []	2046270	\N	\N	EFO	4	EFO	bone disease	IMAGe syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85173	"" []	2046271	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	IMAGe syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85173	"" []	4402012	\N	\N	EFO	6	EFO	disease	IMAGe syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85173	"" []	3196344	\N	\N	EFO	5	EFO	disease	IMAGe syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85173	"" []	3196345	\N	\N	EFO	5	EFO	skeletal system disease	IMAGe syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85173	"" []	3196346	\N	\N	EFO	5	EFO	genetic disorder	IMAGe syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85173	"" []	5183409	\N	\N	EFO	7	EFO	disposition	IMAGe syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85173	"" []	4402011	\N	\N	EFO	6	EFO	disease	IMAGe syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85173	"" []	5998741	\N	\N	EFO	8	EFO	material property	IMAGe syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85173	"" []	6551781	\N	\N	EFO	9	EFO	experimental factor	IMAGe syndrome
Orphanet:85174	\N	\N	"" []	Orphanet:85174	"" []	78160	\N	\N	EFO	0	EFO	Pseudodiastrophic dysplasia	Pseudodiastrophic dysplasia
Orphanet:139030	Orphanet:85174	\N	"" []	Orphanet:85174	"" []	222715	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Pseudodiastrophic dysplasia
Orphanet:93441	Orphanet:85174	\N	"" []	Orphanet:85174	"" []	222716	\N	\N	EFO	1	EFO	Primary bone dysplasia with multiple joint dislocations	Pseudodiastrophic dysplasia
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:85174	"" []	579020	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Pseudodiastrophic dysplasia
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:85174	"" []	579021	\N	\N	EFO	2	EFO	Primary bone dysplasia	Pseudodiastrophic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85174	"" []	3196350	\N	\N	EFO	5	EFO	genetic disorder	Pseudodiastrophic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85174	"" []	1162643	\N	\N	EFO	3	EFO	Rare genetic bone disease	Pseudodiastrophic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85174	"" []	1162644	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Pseudodiastrophic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85174	"" []	4066997	\N	\N	EFO	6	EFO	disease	Pseudodiastrophic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85174	"" []	2046273	\N	\N	EFO	4	EFO	genetic disorder	Pseudodiastrophic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85174	"" []	2046274	\N	\N	EFO	4	EFO	bone disease	Pseudodiastrophic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85174	"" []	2046275	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pseudodiastrophic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85174	"" []	5060282	\N	\N	EFO	7	EFO	disposition	Pseudodiastrophic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85174	"" []	3196349	\N	\N	EFO	5	EFO	skeletal system disease	Pseudodiastrophic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85174	"" []	5877768	\N	\N	EFO	8	EFO	material property	Pseudodiastrophic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85174	"" []	4402014	\N	\N	EFO	6	EFO	disease	Pseudodiastrophic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85174	"" []	6470987	\N	\N	EFO	9	EFO	experimental factor	Pseudodiastrophic dysplasia
Orphanet:85175	\N	\N	"" []	Orphanet:85175	"" []	78161	\N	\N	EFO	0	EFO	Astley-Kendall dysplasia	Astley-Kendall dysplasia
Orphanet:93442	Orphanet:85175	\N	"" []	Orphanet:85175	"" []	222717	\N	\N	EFO	1	EFO	Chondrodysplasia punctata	Astley-Kendall dysplasia
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:85175	"" []	579022	\N	\N	EFO	2	EFO	Primary bone dysplasia	Astley-Kendall dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85175	"" []	1162645	\N	\N	EFO	3	EFO	Rare genetic bone disease	Astley-Kendall dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85175	"" []	1162646	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Astley-Kendall dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85175	"" []	2046276	\N	\N	EFO	4	EFO	genetic disorder	Astley-Kendall dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85175	"" []	2046277	\N	\N	EFO	4	EFO	bone disease	Astley-Kendall dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85175	"" []	2046278	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Astley-Kendall dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85175	"" []	4402017	\N	\N	EFO	6	EFO	disease	Astley-Kendall dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85175	"" []	3196352	\N	\N	EFO	5	EFO	skeletal system disease	Astley-Kendall dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85175	"" []	3196353	\N	\N	EFO	5	EFO	genetic disorder	Astley-Kendall dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85175	"" []	5183411	\N	\N	EFO	7	EFO	disposition	Astley-Kendall dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85175	"" []	4402016	\N	\N	EFO	6	EFO	disease	Astley-Kendall dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85175	"" []	5998743	\N	\N	EFO	8	EFO	material property	Astley-Kendall dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85175	"" []	6551782	\N	\N	EFO	9	EFO	experimental factor	Astley-Kendall dysplasia
Orphanet:85179	\N	\N	"" []	Orphanet:85179	"" []	78162	\N	\N	EFO	0	EFO	Infantile osteopetrosis with neuroaxonal dysplasia	Infantile osteopetrosis with neuroaxonal dysplasia
Orphanet:2781	Orphanet:85179	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:85179	"" []	222718	\N	\N	EFO	1	EFO	Osteopetrosis	Infantile osteopetrosis with neuroaxonal dysplasia
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:85179	"" []	579023	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Infantile osteopetrosis with neuroaxonal dysplasia
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:85179	"" []	1162647	\N	\N	EFO	3	EFO	Primary bone dysplasia	Infantile osteopetrosis with neuroaxonal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85179	"" []	2046279	\N	\N	EFO	4	EFO	Rare genetic bone disease	Infantile osteopetrosis with neuroaxonal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85179	"" []	2046280	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Infantile osteopetrosis with neuroaxonal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85179	"" []	3196354	\N	\N	EFO	5	EFO	genetic disorder	Infantile osteopetrosis with neuroaxonal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85179	"" []	3196355	\N	\N	EFO	5	EFO	bone disease	Infantile osteopetrosis with neuroaxonal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85179	"" []	3196356	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Infantile osteopetrosis with neuroaxonal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85179	"" []	5418166	\N	\N	EFO	7	EFO	disease	Infantile osteopetrosis with neuroaxonal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85179	"" []	4402019	\N	\N	EFO	6	EFO	skeletal system disease	Infantile osteopetrosis with neuroaxonal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85179	"" []	4402020	\N	\N	EFO	6	EFO	genetic disorder	Infantile osteopetrosis with neuroaxonal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85179	"" []	5998744	\N	\N	EFO	8	EFO	disposition	Infantile osteopetrosis with neuroaxonal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85179	"" []	5418165	\N	\N	EFO	7	EFO	disease	Infantile osteopetrosis with neuroaxonal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85179	"" []	6551783	\N	\N	EFO	9	EFO	material property	Infantile osteopetrosis with neuroaxonal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85179	"" []	6889548	\N	\N	EFO	10	EFO	experimental factor	Infantile osteopetrosis with neuroaxonal dysplasia
Orphanet:85182	\N	\N	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	78163	\N	\N	EFO	0	EFO	Diaphyseal medullary stenosis - bone malignancy	Diaphyseal medullary stenosis - bone malignancy
Orphanet:183527	Orphanet:85182	\N	"" []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	222719	\N	\N	EFO	1	EFO	Genetic bone tumor	Diaphyseal medullary stenosis - bone malignancy
Orphanet:93444	Orphanet:85182	\N	"" []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	222720	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Diaphyseal medullary stenosis - bone malignancy
EFO:0003820	Orphanet:183527	\N	"Tumors or cancer located in bone tissue or specific BONES." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	579024	\N	\N	EFO	2	EFO	bone neoplasm	Diaphyseal medullary stenosis - bone malignancy
EFO:0004260	Orphanet:183527	\N	"Diseases of BONES." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	579025	\N	\N	EFO	2	EFO	bone disease	Diaphyseal medullary stenosis - bone malignancy
Orphanet:68336	Orphanet:183527	\N	"" []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	579026	\N	\N	EFO	2	EFO	Rare genetic tumor	Diaphyseal medullary stenosis - bone malignancy
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	579027	\N	\N	EFO	2	EFO	Primary bone dysplasia	Diaphyseal medullary stenosis - bone malignancy
EFO:0000616	EFO:0003820	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	1162648	\N	\N	EFO	3	EFO	neoplasm	Diaphyseal medullary stenosis - bone malignancy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	3196359	\N	\N	EFO	5	EFO	skeletal system disease	Diaphyseal medullary stenosis - bone malignancy
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	1162650	\N	\N	EFO	3	EFO	genetic disorder	Diaphyseal medullary stenosis - bone malignancy
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	1162651	\N	\N	EFO	3	EFO	neoplasm	Diaphyseal medullary stenosis - bone malignancy
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	1162652	\N	\N	EFO	3	EFO	Rare genetic bone disease	Diaphyseal medullary stenosis - bone malignancy
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	1162653	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Diaphyseal medullary stenosis - bone malignancy
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	2046281	\N	\N	EFO	4	EFO	disease	Diaphyseal medullary stenosis - bone malignancy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	4066998	\N	\N	EFO	6	EFO	disease	Diaphyseal medullary stenosis - bone malignancy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	4402022	\N	\N	EFO	6	EFO	disease	Diaphyseal medullary stenosis - bone malignancy
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	2046284	\N	\N	EFO	4	EFO	genetic disorder	Diaphyseal medullary stenosis - bone malignancy
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	2046285	\N	\N	EFO	4	EFO	bone disease	Diaphyseal medullary stenosis - bone malignancy
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	2046286	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Diaphyseal medullary stenosis - bone malignancy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	5060283	\N	\N	EFO	7	EFO	disposition	Diaphyseal medullary stenosis - bone malignancy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	3196360	\N	\N	EFO	5	EFO	genetic disorder	Diaphyseal medullary stenosis - bone malignancy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	5877769	\N	\N	EFO	8	EFO	material property	Diaphyseal medullary stenosis - bone malignancy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85182	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." []	6470988	\N	\N	EFO	9	EFO	experimental factor	Diaphyseal medullary stenosis - bone malignancy
Orphanet:85184	\N	\N	"" []	Orphanet:85184	"" []	78164	\N	\N	EFO	0	EFO	Craniometadiaphyseal dysplasia, wormian bone type	Craniometadiaphyseal dysplasia, wormian bone type
Orphanet:93444	Orphanet:85184	\N	"" []	Orphanet:85184	"" []	222721	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Craniometadiaphyseal dysplasia, wormian bone type
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:85184	"" []	579028	\N	\N	EFO	2	EFO	Primary bone dysplasia	Craniometadiaphyseal dysplasia, wormian bone type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85184	"" []	1162654	\N	\N	EFO	3	EFO	Rare genetic bone disease	Craniometadiaphyseal dysplasia, wormian bone type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85184	"" []	1162655	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Craniometadiaphyseal dysplasia, wormian bone type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85184	"" []	2046287	\N	\N	EFO	4	EFO	genetic disorder	Craniometadiaphyseal dysplasia, wormian bone type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85184	"" []	2046288	\N	\N	EFO	4	EFO	bone disease	Craniometadiaphyseal dysplasia, wormian bone type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85184	"" []	2046289	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniometadiaphyseal dysplasia, wormian bone type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85184	"" []	4402025	\N	\N	EFO	6	EFO	disease	Craniometadiaphyseal dysplasia, wormian bone type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85184	"" []	3196362	\N	\N	EFO	5	EFO	skeletal system disease	Craniometadiaphyseal dysplasia, wormian bone type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85184	"" []	3196363	\N	\N	EFO	5	EFO	genetic disorder	Craniometadiaphyseal dysplasia, wormian bone type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85184	"" []	5183413	\N	\N	EFO	7	EFO	disposition	Craniometadiaphyseal dysplasia, wormian bone type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85184	"" []	4402024	\N	\N	EFO	6	EFO	disease	Craniometadiaphyseal dysplasia, wormian bone type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85184	"" []	5998746	\N	\N	EFO	8	EFO	material property	Craniometadiaphyseal dysplasia, wormian bone type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85184	"" []	6551784	\N	\N	EFO	9	EFO	experimental factor	Craniometadiaphyseal dysplasia, wormian bone type
Orphanet:85186	\N	\N	"" []	Orphanet:85186	"" []	78165	\N	\N	EFO	0	EFO	Endosteal sclerosis - cerebellar hypoplasia	Endosteal sclerosis - cerebellar hypoplasia
Orphanet:269567	Orphanet:85186	\N	"" []	Orphanet:85186	"" []	222722	\N	\N	EFO	1	EFO	Genetic syndrome with a cerebellar malformation as major feature	Endosteal sclerosis - cerebellar hypoplasia
Orphanet:93444	Orphanet:85186	\N	"" []	Orphanet:85186	"" []	222723	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Endosteal sclerosis - cerebellar hypoplasia
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:85186	"" []	579029	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Endosteal sclerosis - cerebellar hypoplasia
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:85186	"" []	579030	\N	\N	EFO	2	EFO	Primary bone dysplasia	Endosteal sclerosis - cerebellar hypoplasia
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:85186	"" []	1162656	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Endosteal sclerosis - cerebellar hypoplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85186	"" []	1162657	\N	\N	EFO	3	EFO	Rare genetic bone disease	Endosteal sclerosis - cerebellar hypoplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85186	"" []	1162658	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Endosteal sclerosis - cerebellar hypoplasia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:85186	"" []	2046290	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Endosteal sclerosis - cerebellar hypoplasia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:85186	"" []	2046291	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Endosteal sclerosis - cerebellar hypoplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85186	"" []	2046292	\N	\N	EFO	4	EFO	genetic disorder	Endosteal sclerosis - cerebellar hypoplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85186	"" []	2046293	\N	\N	EFO	4	EFO	bone disease	Endosteal sclerosis - cerebellar hypoplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85186	"" []	2046294	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Endosteal sclerosis - cerebellar hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85186	"" []	3196364	\N	\N	EFO	5	EFO	genetic disorder	Endosteal sclerosis - cerebellar hypoplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85186	"" []	3196365	\N	\N	EFO	5	EFO	genetic disorder	Endosteal sclerosis - cerebellar hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85186	"" []	4402026	\N	\N	EFO	6	EFO	disease	Endosteal sclerosis - cerebellar hypoplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85186	"" []	3196367	\N	\N	EFO	5	EFO	skeletal system disease	Endosteal sclerosis - cerebellar hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85186	"" []	5183414	\N	\N	EFO	7	EFO	disposition	Endosteal sclerosis - cerebellar hypoplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85186	"" []	4402028	\N	\N	EFO	6	EFO	disease	Endosteal sclerosis - cerebellar hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85186	"" []	5998747	\N	\N	EFO	8	EFO	material property	Endosteal sclerosis - cerebellar hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85186	"" []	6551785	\N	\N	EFO	9	EFO	experimental factor	Endosteal sclerosis - cerebellar hypoplasia
Orphanet:85188	\N	\N	"" []	Orphanet:85188	"" []	78166	\N	\N	EFO	0	EFO	Metaphyseal dysplasia, Braun-Tinschert type	Metaphyseal dysplasia, Braun-Tinschert type
Orphanet:93444	Orphanet:85188	\N	"" []	Orphanet:85188	"" []	222724	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Metaphyseal dysplasia, Braun-Tinschert type
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:85188	"" []	579031	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metaphyseal dysplasia, Braun-Tinschert type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85188	"" []	1162659	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metaphyseal dysplasia, Braun-Tinschert type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85188	"" []	1162660	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metaphyseal dysplasia, Braun-Tinschert type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85188	"" []	2046295	\N	\N	EFO	4	EFO	genetic disorder	Metaphyseal dysplasia, Braun-Tinschert type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85188	"" []	2046296	\N	\N	EFO	4	EFO	bone disease	Metaphyseal dysplasia, Braun-Tinschert type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85188	"" []	2046297	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metaphyseal dysplasia, Braun-Tinschert type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85188	"" []	4402031	\N	\N	EFO	6	EFO	disease	Metaphyseal dysplasia, Braun-Tinschert type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85188	"" []	3196369	\N	\N	EFO	5	EFO	skeletal system disease	Metaphyseal dysplasia, Braun-Tinschert type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85188	"" []	3196370	\N	\N	EFO	5	EFO	genetic disorder	Metaphyseal dysplasia, Braun-Tinschert type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85188	"" []	5183415	\N	\N	EFO	7	EFO	disposition	Metaphyseal dysplasia, Braun-Tinschert type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85188	"" []	4402030	\N	\N	EFO	6	EFO	disease	Metaphyseal dysplasia, Braun-Tinschert type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85188	"" []	5998748	\N	\N	EFO	8	EFO	material property	Metaphyseal dysplasia, Braun-Tinschert type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85188	"" []	6551786	\N	\N	EFO	9	EFO	experimental factor	Metaphyseal dysplasia, Braun-Tinschert type
Orphanet:85191	\N	\N	"" []	Orphanet:85191	"" []	78167	\N	\N	EFO	0	EFO	Singleton-Merten dysplasia	Singleton-Merten dysplasia
Orphanet:93446	Orphanet:85191	\N	"" []	Orphanet:85191	"" []	222725	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Singleton-Merten dysplasia
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:85191	"" []	579032	\N	\N	EFO	2	EFO	Primary bone dysplasia	Singleton-Merten dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85191	"" []	1162661	\N	\N	EFO	3	EFO	Rare genetic bone disease	Singleton-Merten dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85191	"" []	1162662	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Singleton-Merten dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85191	"" []	2046298	\N	\N	EFO	4	EFO	genetic disorder	Singleton-Merten dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85191	"" []	2046299	\N	\N	EFO	4	EFO	bone disease	Singleton-Merten dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85191	"" []	2046300	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Singleton-Merten dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85191	"" []	4402034	\N	\N	EFO	6	EFO	disease	Singleton-Merten dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85191	"" []	3196372	\N	\N	EFO	5	EFO	skeletal system disease	Singleton-Merten dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85191	"" []	3196373	\N	\N	EFO	5	EFO	genetic disorder	Singleton-Merten dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85191	"" []	5183416	\N	\N	EFO	7	EFO	disposition	Singleton-Merten dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85191	"" []	4402033	\N	\N	EFO	6	EFO	disease	Singleton-Merten dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85191	"" []	5998749	\N	\N	EFO	8	EFO	material property	Singleton-Merten dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85191	"" []	6551787	\N	\N	EFO	9	EFO	experimental factor	Singleton-Merten dysplasia
Orphanet:85192	\N	\N	"" []	Orphanet:85192	"" []	78168	\N	\N	EFO	0	EFO	Calvarial doughnut lesions - bone fragility	Calvarial doughnut lesions - bone fragility
Orphanet:93446	Orphanet:85192	\N	"" []	Orphanet:85192	"" []	222726	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Calvarial doughnut lesions - bone fragility
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:85192	"" []	579033	\N	\N	EFO	2	EFO	Primary bone dysplasia	Calvarial doughnut lesions - bone fragility
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85192	"" []	1162663	\N	\N	EFO	3	EFO	Rare genetic bone disease	Calvarial doughnut lesions - bone fragility
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85192	"" []	1162664	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Calvarial doughnut lesions - bone fragility
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85192	"" []	2046301	\N	\N	EFO	4	EFO	genetic disorder	Calvarial doughnut lesions - bone fragility
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85192	"" []	2046302	\N	\N	EFO	4	EFO	bone disease	Calvarial doughnut lesions - bone fragility
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85192	"" []	2046303	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Calvarial doughnut lesions - bone fragility
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85192	"" []	4402037	\N	\N	EFO	6	EFO	disease	Calvarial doughnut lesions - bone fragility
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85192	"" []	3196375	\N	\N	EFO	5	EFO	skeletal system disease	Calvarial doughnut lesions - bone fragility
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85192	"" []	3196376	\N	\N	EFO	5	EFO	genetic disorder	Calvarial doughnut lesions - bone fragility
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85192	"" []	5183417	\N	\N	EFO	7	EFO	disposition	Calvarial doughnut lesions - bone fragility
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85192	"" []	4402036	\N	\N	EFO	6	EFO	disease	Calvarial doughnut lesions - bone fragility
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85192	"" []	5998750	\N	\N	EFO	8	EFO	material property	Calvarial doughnut lesions - bone fragility
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85192	"" []	6551788	\N	\N	EFO	9	EFO	experimental factor	Calvarial doughnut lesions - bone fragility
Orphanet:85193	\N	\N	"" []	Orphanet:85193	"" []	78169	\N	\N	EFO	0	EFO	Idiopathic juvenile osteoporosis	Idiopathic juvenile osteoporosis
Orphanet:93446	Orphanet:85193	\N	"" []	Orphanet:85193	"" []	222727	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Idiopathic juvenile osteoporosis
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:85193	"" []	579034	\N	\N	EFO	2	EFO	Primary bone dysplasia	Idiopathic juvenile osteoporosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85193	"" []	1162665	\N	\N	EFO	3	EFO	Rare genetic bone disease	Idiopathic juvenile osteoporosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85193	"" []	1162666	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Idiopathic juvenile osteoporosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85193	"" []	2046304	\N	\N	EFO	4	EFO	genetic disorder	Idiopathic juvenile osteoporosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85193	"" []	2046305	\N	\N	EFO	4	EFO	bone disease	Idiopathic juvenile osteoporosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85193	"" []	2046306	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Idiopathic juvenile osteoporosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85193	"" []	4402040	\N	\N	EFO	6	EFO	disease	Idiopathic juvenile osteoporosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85193	"" []	3196378	\N	\N	EFO	5	EFO	skeletal system disease	Idiopathic juvenile osteoporosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85193	"" []	3196379	\N	\N	EFO	5	EFO	genetic disorder	Idiopathic juvenile osteoporosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85193	"" []	5183418	\N	\N	EFO	7	EFO	disposition	Idiopathic juvenile osteoporosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85193	"" []	4402039	\N	\N	EFO	6	EFO	disease	Idiopathic juvenile osteoporosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85193	"" []	5998751	\N	\N	EFO	8	EFO	material property	Idiopathic juvenile osteoporosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85193	"" []	6551789	\N	\N	EFO	9	EFO	experimental factor	Idiopathic juvenile osteoporosis
Orphanet:85194	\N	\N	"" []	Orphanet:85194	"" []	78170	\N	\N	EFO	0	EFO	Spondylo-ocular syndrome	Spondylo-ocular syndrome
Orphanet:93446	Orphanet:85194	\N	"" []	Orphanet:85194	"" []	222728	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Spondylo-ocular syndrome
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:85194	"" []	579035	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylo-ocular syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85194	"" []	1162667	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylo-ocular syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85194	"" []	1162668	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylo-ocular syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85194	"" []	2046307	\N	\N	EFO	4	EFO	genetic disorder	Spondylo-ocular syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85194	"" []	2046308	\N	\N	EFO	4	EFO	bone disease	Spondylo-ocular syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85194	"" []	2046309	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylo-ocular syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85194	"" []	4402043	\N	\N	EFO	6	EFO	disease	Spondylo-ocular syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85194	"" []	3196381	\N	\N	EFO	5	EFO	skeletal system disease	Spondylo-ocular syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85194	"" []	3196382	\N	\N	EFO	5	EFO	genetic disorder	Spondylo-ocular syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85194	"" []	5183419	\N	\N	EFO	7	EFO	disposition	Spondylo-ocular syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85194	"" []	4402042	\N	\N	EFO	6	EFO	disease	Spondylo-ocular syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85194	"" []	5998752	\N	\N	EFO	8	EFO	material property	Spondylo-ocular syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85194	"" []	6551790	\N	\N	EFO	9	EFO	experimental factor	Spondylo-ocular syndrome
Orphanet:85195	\N	\N	"" []	Orphanet:85195	"" []	78171	\N	\N	EFO	0	EFO	Familial expansile osteolysis	Familial expansile osteolysis
Orphanet:93449	Orphanet:85195	\N	"" []	Orphanet:85195	"" []	222729	\N	\N	EFO	1	EFO	Primary osteolysis	Familial expansile osteolysis
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:85195	"" []	579036	\N	\N	EFO	2	EFO	Primary bone dysplasia	Familial expansile osteolysis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85195	"" []	1162669	\N	\N	EFO	3	EFO	Rare genetic bone disease	Familial expansile osteolysis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85195	"" []	1162670	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Familial expansile osteolysis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85195	"" []	2046310	\N	\N	EFO	4	EFO	genetic disorder	Familial expansile osteolysis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85195	"" []	2046311	\N	\N	EFO	4	EFO	bone disease	Familial expansile osteolysis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85195	"" []	2046312	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial expansile osteolysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85195	"" []	4402046	\N	\N	EFO	6	EFO	disease	Familial expansile osteolysis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85195	"" []	3196384	\N	\N	EFO	5	EFO	skeletal system disease	Familial expansile osteolysis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85195	"" []	3196385	\N	\N	EFO	5	EFO	genetic disorder	Familial expansile osteolysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85195	"" []	5183420	\N	\N	EFO	7	EFO	disposition	Familial expansile osteolysis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85195	"" []	4402045	\N	\N	EFO	6	EFO	disease	Familial expansile osteolysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85195	"" []	5998753	\N	\N	EFO	8	EFO	material property	Familial expansile osteolysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85195	"" []	6551791	\N	\N	EFO	9	EFO	experimental factor	Familial expansile osteolysis
Orphanet:85196	\N	\N	"" []	Orphanet:85196	"" []	78172	\N	\N	EFO	0	EFO	Nodulosis-arthropathy-osteolysis syndrome	Nodulosis-arthropathy-osteolysis syndrome
Orphanet:371428	Orphanet:85196	\N	"" []	Orphanet:85196	"" []	222730	\N	\N	EFO	1	EFO	Multicentric osteolysis-nodulosis-arthropathy spectrum	Nodulosis-arthropathy-osteolysis syndrome
Orphanet:93449	Orphanet:371428	\N	"" []	Orphanet:85196	"" []	579037	\N	\N	EFO	2	EFO	Primary osteolysis	Nodulosis-arthropathy-osteolysis syndrome
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:85196	"" []	1162671	\N	\N	EFO	3	EFO	Primary bone dysplasia	Nodulosis-arthropathy-osteolysis syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85196	"" []	2046313	\N	\N	EFO	4	EFO	Rare genetic bone disease	Nodulosis-arthropathy-osteolysis syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85196	"" []	2046314	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Nodulosis-arthropathy-osteolysis syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85196	"" []	3196386	\N	\N	EFO	5	EFO	genetic disorder	Nodulosis-arthropathy-osteolysis syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85196	"" []	3196387	\N	\N	EFO	5	EFO	bone disease	Nodulosis-arthropathy-osteolysis syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85196	"" []	3196388	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Nodulosis-arthropathy-osteolysis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85196	"" []	5418178	\N	\N	EFO	7	EFO	disease	Nodulosis-arthropathy-osteolysis syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85196	"" []	4402048	\N	\N	EFO	6	EFO	skeletal system disease	Nodulosis-arthropathy-osteolysis syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85196	"" []	4402049	\N	\N	EFO	6	EFO	genetic disorder	Nodulosis-arthropathy-osteolysis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85196	"" []	5998754	\N	\N	EFO	8	EFO	disposition	Nodulosis-arthropathy-osteolysis syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85196	"" []	5418177	\N	\N	EFO	7	EFO	disease	Nodulosis-arthropathy-osteolysis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85196	"" []	6551792	\N	\N	EFO	9	EFO	material property	Nodulosis-arthropathy-osteolysis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85196	"" []	6889549	\N	\N	EFO	10	EFO	experimental factor	Nodulosis-arthropathy-osteolysis syndrome
Orphanet:85197	\N	\N	"" []	Orphanet:85197	"" []	78173	\N	\N	EFO	0	EFO	Genochondromatosis type 1	Genochondromatosis type 1
Orphanet:93450	Orphanet:85197	\N	"" []	Orphanet:85197	"" []	222731	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Genochondromatosis type 1
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:85197	"" []	579038	\N	\N	EFO	2	EFO	Primary bone dysplasia	Genochondromatosis type 1
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85197	"" []	1162672	\N	\N	EFO	3	EFO	Rare genetic bone disease	Genochondromatosis type 1
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85197	"" []	1162673	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Genochondromatosis type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85197	"" []	2046315	\N	\N	EFO	4	EFO	genetic disorder	Genochondromatosis type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85197	"" []	2046316	\N	\N	EFO	4	EFO	bone disease	Genochondromatosis type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85197	"" []	2046317	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Genochondromatosis type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85197	"" []	4402052	\N	\N	EFO	6	EFO	disease	Genochondromatosis type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85197	"" []	3196390	\N	\N	EFO	5	EFO	skeletal system disease	Genochondromatosis type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85197	"" []	3196391	\N	\N	EFO	5	EFO	genetic disorder	Genochondromatosis type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85197	"" []	5183421	\N	\N	EFO	7	EFO	disposition	Genochondromatosis type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85197	"" []	4402051	\N	\N	EFO	6	EFO	disease	Genochondromatosis type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85197	"" []	5998755	\N	\N	EFO	8	EFO	material property	Genochondromatosis type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85197	"" []	6551793	\N	\N	EFO	9	EFO	experimental factor	Genochondromatosis type 1
Orphanet:85198	\N	\N	"" []	Orphanet:85198	"" []	78174	\N	\N	EFO	0	EFO	Dysspondyloenchondromatosis	Dysspondyloenchondromatosis
Orphanet:93450	Orphanet:85198	\N	"" []	Orphanet:85198	"" []	222732	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Dysspondyloenchondromatosis
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:85198	"" []	579039	\N	\N	EFO	2	EFO	Primary bone dysplasia	Dysspondyloenchondromatosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85198	"" []	1162674	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dysspondyloenchondromatosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85198	"" []	1162675	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dysspondyloenchondromatosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85198	"" []	2046318	\N	\N	EFO	4	EFO	genetic disorder	Dysspondyloenchondromatosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85198	"" []	2046319	\N	\N	EFO	4	EFO	bone disease	Dysspondyloenchondromatosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85198	"" []	2046320	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dysspondyloenchondromatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85198	"" []	4402055	\N	\N	EFO	6	EFO	disease	Dysspondyloenchondromatosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85198	"" []	3196393	\N	\N	EFO	5	EFO	skeletal system disease	Dysspondyloenchondromatosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85198	"" []	3196394	\N	\N	EFO	5	EFO	genetic disorder	Dysspondyloenchondromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85198	"" []	5183422	\N	\N	EFO	7	EFO	disposition	Dysspondyloenchondromatosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85198	"" []	4402054	\N	\N	EFO	6	EFO	disease	Dysspondyloenchondromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85198	"" []	5998756	\N	\N	EFO	8	EFO	material property	Dysspondyloenchondromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85198	"" []	6551794	\N	\N	EFO	9	EFO	experimental factor	Dysspondyloenchondromatosis
Orphanet:85199	\N	\N	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	78175	\N	\N	EFO	0	EFO	Craniosynostosis - anal anomalies - porokeratosis	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:139393	Orphanet:85199	\N	"" []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	222733	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:93451	Orphanet:85199	\N	"" []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	222734	\N	\N	EFO	1	EFO	Cleidocranial dysplasia and isolated cranial ossification defect	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	579040	\N	\N	EFO	2	EFO	Craniosynostosis	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:364526	Orphanet:93451	\N	"" []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	579041	\N	\N	EFO	2	EFO	Primary bone dysplasia	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	1162676	\N	\N	EFO	3	EFO	Genetic cranial malformation	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	1162677	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	1162678	\N	\N	EFO	3	EFO	Rare genetic bone disease	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	1162679	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	2046321	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	2046322	\N	\N	EFO	4	EFO	Rare genetic bone disease	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	2046323	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Craniosynostosis - anal anomalies - porokeratosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	3196396	\N	\N	EFO	5	EFO	genetic disorder	Craniosynostosis - anal anomalies - porokeratosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	3196397	\N	\N	EFO	5	EFO	bone disease	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	3196398	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Craniosynostosis - anal anomalies - porokeratosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	4134397	\N	\N	EFO	6	EFO	genetic disorder	Craniosynostosis - anal anomalies - porokeratosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	5183423	\N	\N	EFO	7	EFO	disease	Craniosynostosis - anal anomalies - porokeratosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	4134396	\N	\N	EFO	6	EFO	skeletal system disease	Craniosynostosis - anal anomalies - porokeratosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	5877770	\N	\N	EFO	8	EFO	disposition	Craniosynostosis - anal anomalies - porokeratosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	5183425	\N	\N	EFO	7	EFO	disease	Craniosynostosis - anal anomalies - porokeratosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	6470989	\N	\N	EFO	9	EFO	material property	Craniosynostosis - anal anomalies - porokeratosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85199	"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." []	6848827	\N	\N	EFO	10	EFO	experimental factor	Craniosynostosis - anal anomalies - porokeratosis
Orphanet:852	\N	\N	"" []	Orphanet:852	"" []	78176	\N	\N	EFO	0	EFO	X-linked thrombocytopenia with normal platelets	X-linked thrombocytopenia with normal platelets
Orphanet:268322	Orphanet:852	\N	"" []	Orphanet:852	"" []	222735	\N	\N	EFO	1	EFO	Hereditary thrombocytopenia with normal platelets	X-linked thrombocytopenia with normal platelets
Orphanet:275729	Orphanet:268322	\N	"" []	Orphanet:852	"" []	579042	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	X-linked thrombocytopenia with normal platelets
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:852	"" []	1162680	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	X-linked thrombocytopenia with normal platelets
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:852	"" []	2046327	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	X-linked thrombocytopenia with normal platelets
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:852	"" []	3196401	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	X-linked thrombocytopenia with normal platelets
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:852	"" []	4402058	\N	\N	EFO	6	EFO	genetic disorder	X-linked thrombocytopenia with normal platelets
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:852	"" []	4402059	\N	\N	EFO	6	EFO	hematological system disease	X-linked thrombocytopenia with normal platelets
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:852	"" []	5418182	\N	\N	EFO	7	EFO	disease	X-linked thrombocytopenia with normal platelets
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:852	"" []	5418183	\N	\N	EFO	7	EFO	disease	X-linked thrombocytopenia with normal platelets
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:852	"" []	6152855	\N	\N	EFO	8	EFO	disposition	X-linked thrombocytopenia with normal platelets
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:852	"" []	6634195	\N	\N	EFO	9	EFO	material property	X-linked thrombocytopenia with normal platelets
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:852	"" []	6926265	\N	\N	EFO	10	EFO	experimental factor	X-linked thrombocytopenia with normal platelets
Orphanet:85200	\N	\N	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	78177	\N	\N	EFO	0	EFO	Ischio-vertebral syndrome	Ischio-vertebral syndrome
Orphanet:93454	Orphanet:85200	\N	"" []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	222736	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Ischio-vertebral syndrome
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	579043	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Ischio-vertebral syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	1162681	\N	\N	EFO	3	EFO	Rare genetic bone disease	Ischio-vertebral syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	1162682	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Ischio-vertebral syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	2046328	\N	\N	EFO	4	EFO	genetic disorder	Ischio-vertebral syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	2046329	\N	\N	EFO	4	EFO	bone disease	Ischio-vertebral syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	2046330	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ischio-vertebral syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	4402062	\N	\N	EFO	6	EFO	disease	Ischio-vertebral syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	3196403	\N	\N	EFO	5	EFO	skeletal system disease	Ischio-vertebral syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	3196404	\N	\N	EFO	5	EFO	genetic disorder	Ischio-vertebral syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	5183426	\N	\N	EFO	7	EFO	disposition	Ischio-vertebral syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	4402061	\N	\N	EFO	6	EFO	disease	Ischio-vertebral syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	5998758	\N	\N	EFO	8	EFO	material property	Ischio-vertebral syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85200	"Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." []	6551796	\N	\N	EFO	9	EFO	experimental factor	Ischio-vertebral syndrome
Orphanet:85201	\N	\N	"" []	Orphanet:85201	"" []	78178	\N	\N	EFO	0	EFO	Genitopatellar syndrome	Genitopatellar syndrome
Orphanet:102283	Orphanet:85201	\N	"" []	Orphanet:85201	"" []	222737	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Genitopatellar syndrome
Orphanet:183763	Orphanet:85201	\N	"" []	Orphanet:85201	"" []	222738	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Genitopatellar syndrome
Orphanet:93455	Orphanet:85201	\N	"" []	Orphanet:85201	"" []	222739	\N	\N	EFO	1	EFO	Patellar dysostosis	Genitopatellar syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85201	"" []	579044	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Genitopatellar syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85201	"" []	579045	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Genitopatellar syndrome
Orphanet:404568	Orphanet:93455	\N	"" []	Orphanet:85201	"" []	579046	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Genitopatellar syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85201	"" []	1162683	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Genitopatellar syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85201	"" []	1162684	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Genitopatellar syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:85201	"" []	1162685	\N	\N	EFO	3	EFO	Rare genetic bone disease	Genitopatellar syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:85201	"" []	1162686	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Genitopatellar syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85201	"" []	3196407	\N	\N	EFO	5	EFO	genetic disorder	Genitopatellar syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85201	"" []	2046332	\N	\N	EFO	4	EFO	genetic disorder	Genitopatellar syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85201	"" []	2046333	\N	\N	EFO	4	EFO	genetic disorder	Genitopatellar syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85201	"" []	2046334	\N	\N	EFO	4	EFO	bone disease	Genitopatellar syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85201	"" []	2046335	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Genitopatellar syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85201	"" []	4134398	\N	\N	EFO	6	EFO	disease	Genitopatellar syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85201	"" []	3196406	\N	\N	EFO	5	EFO	skeletal system disease	Genitopatellar syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85201	"" []	5183427	\N	\N	EFO	7	EFO	disposition	Genitopatellar syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85201	"" []	4402064	\N	\N	EFO	6	EFO	disease	Genitopatellar syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85201	"" []	5998759	\N	\N	EFO	8	EFO	material property	Genitopatellar syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85201	"" []	6551797	\N	\N	EFO	9	EFO	experimental factor	Genitopatellar syndrome
Orphanet:85202	\N	\N	"" []	Orphanet:85202	"" []	78179	\N	\N	EFO	0	EFO	Keutel syndrome	Keutel syndrome
Orphanet:102283	Orphanet:85202	\N	"" []	Orphanet:85202	"" []	222740	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Keutel syndrome
Orphanet:183763	Orphanet:85202	\N	"" []	Orphanet:85202	"" []	222741	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Keutel syndrome
Orphanet:69028	Orphanet:85202	\N	"" []	Orphanet:85202	"" []	222742	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Keutel syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85202	"" []	579047	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Keutel syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85202	"" []	579048	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Keutel syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:85202	"" []	579049	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Keutel syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:85202	"" []	579050	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Keutel syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85202	"" []	1162687	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Keutel syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85202	"" []	1162688	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Keutel syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:85202	"" []	1162689	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Keutel syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:85202	"" []	1162690	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Keutel syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85202	"" []	4402067	\N	\N	EFO	6	EFO	genetic disorder	Keutel syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85202	"" []	2046337	\N	\N	EFO	4	EFO	genetic disorder	Keutel syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:85202	"" []	2046338	\N	\N	EFO	4	EFO	Rare genetic bone disease	Keutel syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:85202	"" []	2046339	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Keutel syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:85202	"" []	2046340	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Keutel syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85202	"" []	5060284	\N	\N	EFO	7	EFO	disease	Keutel syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85202	"" []	3196409	\N	\N	EFO	5	EFO	genetic disorder	Keutel syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85202	"" []	3196410	\N	\N	EFO	5	EFO	bone disease	Keutel syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85202	"" []	3196411	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Keutel syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85202	"" []	5877771	\N	\N	EFO	8	EFO	disposition	Keutel syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85202	"" []	4402066	\N	\N	EFO	6	EFO	skeletal system disease	Keutel syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85202	"" []	6470990	\N	\N	EFO	9	EFO	material property	Keutel syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85202	"" []	5418187	\N	\N	EFO	7	EFO	disease	Keutel syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85202	"" []	6848828	\N	\N	EFO	10	EFO	experimental factor	Keutel syndrome
Orphanet:85203	\N	\N	"" []	Orphanet:85203	"" []	78180	\N	\N	EFO	0	EFO	Acro-pectoral syndrome	Acro-pectoral syndrome
Orphanet:294959	Orphanet:85203	\N	"" []	Orphanet:85203	"" []	222743	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Acro-pectoral syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:85203	"" []	579051	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acro-pectoral syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:85203	"" []	579052	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Acro-pectoral syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:85203	"" []	1162691	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Acro-pectoral syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:85203	"" []	1162692	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Acro-pectoral syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:85203	"" []	2046341	\N	\N	EFO	4	EFO	Rare genetic bone disease	Acro-pectoral syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:85203	"" []	2046342	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Acro-pectoral syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:85203	"" []	2046343	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acro-pectoral syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85203	"" []	3196413	\N	\N	EFO	5	EFO	genetic disorder	Acro-pectoral syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:85203	"" []	3196414	\N	\N	EFO	5	EFO	bone disease	Acro-pectoral syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:85203	"" []	3196415	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acro-pectoral syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85203	"" []	4402070	\N	\N	EFO	6	EFO	genetic disorder	Acro-pectoral syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85203	"" []	5183429	\N	\N	EFO	7	EFO	disease	Acro-pectoral syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:85203	"" []	4402069	\N	\N	EFO	6	EFO	skeletal system disease	Acro-pectoral syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85203	"" []	5998761	\N	\N	EFO	8	EFO	disposition	Acro-pectoral syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85203	"" []	5418189	\N	\N	EFO	7	EFO	disease	Acro-pectoral syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85203	"" []	6551799	\N	\N	EFO	9	EFO	material property	Acro-pectoral syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85203	"" []	6889550	\N	\N	EFO	10	EFO	experimental factor	Acro-pectoral syndrome
Orphanet:85212	\N	\N	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	78181	\N	\N	EFO	0	EFO	Fetal Gaucher disease	Fetal Gaucher disease
Orphanet:281241	Orphanet:85212	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	222744	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with fatal disease course	Fetal Gaucher disease
Orphanet:355	Orphanet:85212	\N	"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	222745	\N	\N	EFO	1	EFO	Gaucher disease	Fetal Gaucher disease
Orphanet:281217	Orphanet:281241	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	579053	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Fetal Gaucher disease
Orphanet:217638	Orphanet:355	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	579054	\N	\N	EFO	2	EFO	Lysosomal disease with restrictive cardiomyopathy	Fetal Gaucher disease
Orphanet:79225	Orphanet:355	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	579055	\N	\N	EFO	2	EFO	Sphingolipidosis	Fetal Gaucher disease
Orphanet:98688	Orphanet:355	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	579056	\N	\N	EFO	2	EFO	Oculomotor apraxia or related oculomotor disease	Fetal Gaucher disease
Orphanet:98711	Orphanet:355	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	579057	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Fetal Gaucher disease
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	1162693	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Fetal Gaucher disease
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	1162694	\N	\N	EFO	3	EFO	Familial restrictive cardiomyopathy	Fetal Gaucher disease
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	1162695	\N	\N	EFO	3	EFO	Lysosomal disease	Fetal Gaucher disease
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	1162696	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Fetal Gaucher disease
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	1162697	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Fetal Gaucher disease
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	2046344	\N	\N	EFO	4	EFO	Inherited ichthyosis	Fetal Gaucher disease
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	2046345	\N	\N	EFO	4	EFO	cardiomyopathy	Fetal Gaucher disease
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	2046346	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Fetal Gaucher disease
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	2046347	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Fetal Gaucher disease
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	2046348	\N	\N	EFO	4	EFO	Rare genetic eye disease	Fetal Gaucher disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	2046349	\N	\N	EFO	4	EFO	Rare genetic eye disease	Fetal Gaucher disease
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	3196417	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Fetal Gaucher disease
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	3196418	\N	\N	EFO	5	EFO	heart disease	Fetal Gaucher disease
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	3196419	\N	\N	EFO	5	EFO	genetic disorder	Fetal Gaucher disease
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	3196420	\N	\N	EFO	5	EFO	heart disease	Fetal Gaucher disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	3196421	\N	\N	EFO	5	EFO	genetic disorder	Fetal Gaucher disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	3196422	\N	\N	EFO	5	EFO	metabolic disease	Fetal Gaucher disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	3196423	\N	\N	EFO	5	EFO	genetic disorder	Fetal Gaucher disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	3196424	\N	\N	EFO	5	EFO	eye disease	Fetal Gaucher disease
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	4402071	\N	\N	EFO	6	EFO	Rare genetic skin disease	Fetal Gaucher disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	4402072	\N	\N	EFO	6	EFO	cardiovascular disease	Fetal Gaucher disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	6152860	\N	\N	EFO	8	EFO	disease	Fetal Gaucher disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	4402074	\N	\N	EFO	6	EFO	disease	Fetal Gaucher disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	4402075	\N	\N	EFO	6	EFO	disease	Fetal Gaucher disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	5418190	\N	\N	EFO	7	EFO	genetic disorder	Fetal Gaucher disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	5418191	\N	\N	EFO	7	EFO	skin disease	Fetal Gaucher disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	5418192	\N	\N	EFO	7	EFO	disease	Fetal Gaucher disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	6470991	\N	\N	EFO	9	EFO	disposition	Fetal Gaucher disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	6152861	\N	\N	EFO	8	EFO	disease	Fetal Gaucher disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	6848829	\N	\N	EFO	10	EFO	material property	Fetal Gaucher disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85212	"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." []	7068538	\N	\N	EFO	11	EFO	experimental factor	Fetal Gaucher disease
Orphanet:85273	\N	\N	"" []	Orphanet:85273	"" []	78182	\N	\N	EFO	0	EFO	X-linked intellectual disability, Abidi type	X-linked intellectual disability, Abidi type
Orphanet:102283	Orphanet:85273	\N	"" []	Orphanet:85273	"" []	222746	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Abidi type
Orphanet:98464	Orphanet:85273	\N	"" []	Orphanet:85273	"" []	222747	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Abidi type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85273	"" []	579058	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Abidi type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85273	"" []	579059	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Abidi type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85273	"" []	1162698	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Abidi type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85273	"" []	1162699	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Abidi type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85273	"" []	2046350	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability, Abidi type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85273	"" []	2046351	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Abidi type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85273	"" []	4402077	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Abidi type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85273	"" []	3196426	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Abidi type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85273	"" []	5183430	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Abidi type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85273	"" []	5998762	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Abidi type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85273	"" []	6551801	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Abidi type
Orphanet:85274	\N	\N	"" []	Orphanet:85274	"" []	78183	\N	\N	EFO	0	EFO	Syndromic X-linked intellectual disability 7	Syndromic X-linked intellectual disability 7
Orphanet:102283	Orphanet:85274	\N	"" []	Orphanet:85274	"" []	222748	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Syndromic X-linked intellectual disability 7
Orphanet:98464	Orphanet:85274	\N	"" []	Orphanet:85274	"" []	222749	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Syndromic X-linked intellectual disability 7
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85274	"" []	579060	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Syndromic X-linked intellectual disability 7
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85274	"" []	579061	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Syndromic X-linked intellectual disability 7
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85274	"" []	1162700	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndromic X-linked intellectual disability 7
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85274	"" []	1162701	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Syndromic X-linked intellectual disability 7
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85274	"" []	2046352	\N	\N	EFO	4	EFO	genetic disorder	Syndromic X-linked intellectual disability 7
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85274	"" []	2046353	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Syndromic X-linked intellectual disability 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85274	"" []	4402079	\N	\N	EFO	6	EFO	disease	Syndromic X-linked intellectual disability 7
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85274	"" []	3196428	\N	\N	EFO	5	EFO	genetic disorder	Syndromic X-linked intellectual disability 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85274	"" []	5183431	\N	\N	EFO	7	EFO	disposition	Syndromic X-linked intellectual disability 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85274	"" []	5998763	\N	\N	EFO	8	EFO	material property	Syndromic X-linked intellectual disability 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85274	"" []	6551802	\N	\N	EFO	9	EFO	experimental factor	Syndromic X-linked intellectual disability 7
Orphanet:85275	\N	\N	"" []	Orphanet:85275	"" []	78184	\N	\N	EFO	0	EFO	Microphthalmia - ankyloblepharon - intellectual disability	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:102283	Orphanet:85275	\N	"" []	Orphanet:85275	"" []	222750	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:202948	Orphanet:85275	\N	"" []	Orphanet:85275	"" []	222751	\N	\N	EFO	1	EFO	Syndromic microphthalmia	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:98464	Orphanet:85275	\N	"" []	Orphanet:85275	"" []	222752	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85275	"" []	579062	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:98555	Orphanet:202948	\N	"" []	Orphanet:85275	"" []	579063	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85275	"" []	579064	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85275	"" []	1162702	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:85275	"" []	1162703	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85275	"" []	1162704	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Microphthalmia - ankyloblepharon - intellectual disability
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85275	"" []	4402083	\N	\N	EFO	6	EFO	genetic disorder	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:85275	"" []	2046355	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85275	"" []	2046356	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Microphthalmia - ankyloblepharon - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85275	"" []	5060285	\N	\N	EFO	7	EFO	disease	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:85275	"" []	3196430	\N	\N	EFO	5	EFO	Rare genetic eye disease	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:85275	"" []	3196431	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Microphthalmia - ankyloblepharon - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85275	"" []	3196432	\N	\N	EFO	5	EFO	genetic disorder	Microphthalmia - ankyloblepharon - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85275	"" []	5877772	\N	\N	EFO	8	EFO	disposition	Microphthalmia - ankyloblepharon - intellectual disability
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85275	"" []	4402081	\N	\N	EFO	6	EFO	genetic disorder	Microphthalmia - ankyloblepharon - intellectual disability
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:85275	"" []	4402082	\N	\N	EFO	6	EFO	eye disease	Microphthalmia - ankyloblepharon - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85275	"" []	6470992	\N	\N	EFO	9	EFO	material property	Microphthalmia - ankyloblepharon - intellectual disability
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85275	"" []	5418197	\N	\N	EFO	7	EFO	disease	Microphthalmia - ankyloblepharon - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85275	"" []	6848830	\N	\N	EFO	10	EFO	experimental factor	Microphthalmia - ankyloblepharon - intellectual disability
Orphanet:85276	\N	\N	"" []	Orphanet:85276	"" []	78185	\N	\N	EFO	0	EFO	X-linked intellectual disability, Armfield type	X-linked intellectual disability, Armfield type
Orphanet:102283	Orphanet:85276	\N	"" []	Orphanet:85276	"" []	222753	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Armfield type
Orphanet:98464	Orphanet:85276	\N	"" []	Orphanet:85276	"" []	222754	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Armfield type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85276	"" []	579065	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Armfield type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85276	"" []	579066	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Armfield type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85276	"" []	1162705	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Armfield type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85276	"" []	1162706	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Armfield type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85276	"" []	2046357	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability, Armfield type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85276	"" []	2046358	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Armfield type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85276	"" []	4402086	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Armfield type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85276	"" []	3196434	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Armfield type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85276	"" []	5183433	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Armfield type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85276	"" []	5998765	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Armfield type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85276	"" []	6551804	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Armfield type
Orphanet:85277	\N	\N	"" []	Orphanet:85277	"" []	78186	\N	\N	EFO	0	EFO	X-linked intellectual disability, Cantagrel type	X-linked intellectual disability, Cantagrel type
Orphanet:98464	Orphanet:85277	\N	"" []	Orphanet:85277	"" []	222755	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Cantagrel type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85277	"" []	579067	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Cantagrel type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85277	"" []	1162707	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Cantagrel type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85277	"" []	2046359	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Cantagrel type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85277	"" []	3196435	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Cantagrel type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85277	"" []	4402087	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Cantagrel type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85277	"" []	5418199	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Cantagrel type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85277	"" []	6152868	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Cantagrel type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85277	"" []	6634198	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Cantagrel type
Orphanet:85278	\N	\N	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	78187	\N	\N	EFO	0	EFO	Christianson syndrome	Christianson syndrome
Orphanet:102283	Orphanet:85278	\N	"" []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	222756	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Christianson syndrome
Orphanet:247765	Orphanet:85278	\N	"" []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	222757	\N	\N	EFO	1	EFO	X-linked cerebellar ataxia	Christianson syndrome
Orphanet:98464	Orphanet:85278	\N	"" []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	222758	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Christianson syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	579068	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Christianson syndrome
Orphanet:183518	Orphanet:247765	\N	"" []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	579069	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Christianson syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	579070	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Christianson syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	1162708	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Christianson syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	1162709	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Christianson syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	1162710	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Christianson syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	2046360	\N	\N	EFO	4	EFO	genetic disorder	Christianson syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	3196437	\N	\N	EFO	5	EFO	genetic disorder	Christianson syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	2046362	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Christianson syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	4134400	\N	\N	EFO	6	EFO	disease	Christianson syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	5183434	\N	\N	EFO	7	EFO	disposition	Christianson syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	5998766	\N	\N	EFO	8	EFO	material property	Christianson syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85278	"Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." []	6551805	\N	\N	EFO	9	EFO	experimental factor	Christianson syndrome
Orphanet:85279	\N	\N	"" []	Orphanet:85279	"" []	78188	\N	\N	EFO	0	EFO	Syndromic X-linked intellectual disability due to JARID1C mutation	Syndromic X-linked intellectual disability due to JARID1C mutation
Orphanet:102283	Orphanet:85279	\N	"" []	Orphanet:85279	"" []	222759	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Syndromic X-linked intellectual disability due to JARID1C mutation
Orphanet:166472	Orphanet:85279	\N	"" []	Orphanet:85279	"" []	222760	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	Syndromic X-linked intellectual disability due to JARID1C mutation
Orphanet:98464	Orphanet:85279	\N	"" []	Orphanet:85279	"" []	222761	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Syndromic X-linked intellectual disability due to JARID1C mutation
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85279	"" []	579071	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Syndromic X-linked intellectual disability due to JARID1C mutation
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:85279	"" []	579072	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Syndromic X-linked intellectual disability due to JARID1C mutation
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85279	"" []	579073	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Syndromic X-linked intellectual disability due to JARID1C mutation
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85279	"" []	1162711	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndromic X-linked intellectual disability due to JARID1C mutation
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:85279	"" []	1162712	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Syndromic X-linked intellectual disability due to JARID1C mutation
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85279	"" []	1162713	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Syndromic X-linked intellectual disability due to JARID1C mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85279	"" []	2046363	\N	\N	EFO	4	EFO	genetic disorder	Syndromic X-linked intellectual disability due to JARID1C mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85279	"" []	3196439	\N	\N	EFO	5	EFO	genetic disorder	Syndromic X-linked intellectual disability due to JARID1C mutation
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85279	"" []	2046365	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Syndromic X-linked intellectual disability due to JARID1C mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85279	"" []	4134401	\N	\N	EFO	6	EFO	disease	Syndromic X-linked intellectual disability due to JARID1C mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85279	"" []	5183435	\N	\N	EFO	7	EFO	disposition	Syndromic X-linked intellectual disability due to JARID1C mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85279	"" []	5998767	\N	\N	EFO	8	EFO	material property	Syndromic X-linked intellectual disability due to JARID1C mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85279	"" []	6551806	\N	\N	EFO	9	EFO	experimental factor	Syndromic X-linked intellectual disability due to JARID1C mutation
Orphanet:85280	\N	\N	"" []	Orphanet:85280	"" []	78189	\N	\N	EFO	0	EFO	X-linked intellectual disability - cubitus valgus - dysmorphism	X-linked intellectual disability - cubitus valgus - dysmorphism
Orphanet:102283	Orphanet:85280	\N	"" []	Orphanet:85280	"" []	222762	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability - cubitus valgus - dysmorphism
Orphanet:98464	Orphanet:85280	\N	"" []	Orphanet:85280	"" []	222763	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - cubitus valgus - dysmorphism
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85280	"" []	579074	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability - cubitus valgus - dysmorphism
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85280	"" []	579075	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - cubitus valgus - dysmorphism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85280	"" []	1162714	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability - cubitus valgus - dysmorphism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85280	"" []	1162715	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - cubitus valgus - dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85280	"" []	2046366	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability - cubitus valgus - dysmorphism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85280	"" []	2046367	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - cubitus valgus - dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85280	"" []	4402091	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - cubitus valgus - dysmorphism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85280	"" []	3196441	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - cubitus valgus - dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85280	"" []	5183436	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - cubitus valgus - dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85280	"" []	5998768	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - cubitus valgus - dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85280	"" []	6551807	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - cubitus valgus - dysmorphism
Orphanet:85282	\N	\N	"" []	Orphanet:85282	"" []	78190	\N	\N	EFO	0	EFO	MEHMO syndrome	MEHMO syndrome
Orphanet:225703	Orphanet:85282	\N	"" []	Orphanet:85282	"" []	222764	\N	\N	EFO	1	EFO	Mitochondrial disease with peripheral neuropathy	MEHMO syndrome
Orphanet:240371	Orphanet:85282	\N	"" []	Orphanet:85282	"" []	222765	\N	\N	EFO	1	EFO	Syndromic obesity	MEHMO syndrome
Orphanet:98464	Orphanet:85282	\N	"" []	Orphanet:85282	"" []	222766	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	MEHMO syndrome
Orphanet:207018	Orphanet:225703	\N	"" []	Orphanet:85282	"" []	579076	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	MEHMO syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:85282	"" []	579077	\N	\N	EFO	2	EFO	Genetic obesity	MEHMO syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85282	"" []	579078	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	MEHMO syndrome
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:85282	"" []	1162716	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	MEHMO syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:85282	"" []	1162717	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	MEHMO syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:85282	"" []	1162718	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	MEHMO syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85282	"" []	1162719	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	MEHMO syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:85282	"" []	2046368	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	MEHMO syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85282	"" []	2046369	\N	\N	EFO	4	EFO	genetic disorder	MEHMO syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:85282	"" []	2046370	\N	\N	EFO	4	EFO	endocrine system disease	MEHMO syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:85282	"" []	2046371	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	MEHMO syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85282	"" []	2046372	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	MEHMO syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:85282	"" []	3196442	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	MEHMO syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85282	"" []	5183438	\N	\N	EFO	7	EFO	disease	MEHMO syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85282	"" []	3196444	\N	\N	EFO	5	EFO	disease	MEHMO syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85282	"" []	3196445	\N	\N	EFO	5	EFO	genetic disorder	MEHMO syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85282	"" []	4402092	\N	\N	EFO	6	EFO	genetic disorder	MEHMO syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85282	"" []	5877773	\N	\N	EFO	8	EFO	disposition	MEHMO syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85282	"" []	6470993	\N	\N	EFO	9	EFO	material property	MEHMO syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85282	"" []	6848831	\N	\N	EFO	10	EFO	experimental factor	MEHMO syndrome
Orphanet:85283	\N	\N	"" []	Orphanet:85283	"" []	78191	\N	\N	EFO	0	EFO	X-linked intellectual disability, Miles-Carpenter type	X-linked intellectual disability, Miles-Carpenter type
Orphanet:102283	Orphanet:85283	\N	"" []	Orphanet:85283	"" []	222767	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Miles-Carpenter type
Orphanet:98464	Orphanet:85283	\N	"" []	Orphanet:85283	"" []	222768	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Miles-Carpenter type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85283	"" []	579079	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Miles-Carpenter type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85283	"" []	579080	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Miles-Carpenter type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85283	"" []	1162720	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Miles-Carpenter type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85283	"" []	1162721	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Miles-Carpenter type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85283	"" []	2046373	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability, Miles-Carpenter type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85283	"" []	2046374	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Miles-Carpenter type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85283	"" []	4402096	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Miles-Carpenter type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85283	"" []	3196448	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Miles-Carpenter type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85283	"" []	5183439	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Miles-Carpenter type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85283	"" []	5998770	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Miles-Carpenter type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85283	"" []	6551809	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Miles-Carpenter type
Orphanet:85284	\N	\N	"" []	Orphanet:85284	"" []	78192	\N	\N	EFO	0	EFO	BRESEK syndrome	BRESEK syndrome
Orphanet:102283	Orphanet:85284	\N	"" []	Orphanet:85284	"" []	222769	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	BRESEK syndrome
Orphanet:98464	Orphanet:85284	\N	"" []	Orphanet:85284	"" []	222770	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	BRESEK syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85284	"" []	579081	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	BRESEK syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85284	"" []	579082	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	BRESEK syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85284	"" []	1162722	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	BRESEK syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85284	"" []	1162723	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	BRESEK syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85284	"" []	2046375	\N	\N	EFO	4	EFO	genetic disorder	BRESEK syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85284	"" []	2046376	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	BRESEK syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85284	"" []	4402098	\N	\N	EFO	6	EFO	disease	BRESEK syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85284	"" []	3196450	\N	\N	EFO	5	EFO	genetic disorder	BRESEK syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85284	"" []	5183440	\N	\N	EFO	7	EFO	disposition	BRESEK syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85284	"" []	5998771	\N	\N	EFO	8	EFO	material property	BRESEK syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85284	"" []	6551810	\N	\N	EFO	9	EFO	experimental factor	BRESEK syndrome
Orphanet:85285	\N	\N	"" []	Orphanet:85285	"" []	78193	\N	\N	EFO	0	EFO	X-linked intellectual disability, Schimke type	X-linked intellectual disability, Schimke type
Orphanet:98464	Orphanet:85285	\N	"" []	Orphanet:85285	"" []	222771	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Schimke type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85285	"" []	579083	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Schimke type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85285	"" []	1162724	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Schimke type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85285	"" []	2046377	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Schimke type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85285	"" []	3196451	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Schimke type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85285	"" []	4402099	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Schimke type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85285	"" []	5418206	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Schimke type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85285	"" []	6152875	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Schimke type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85285	"" []	6634199	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Schimke type
Orphanet:85286	\N	\N	"" []	Orphanet:85286	"" []	78194	\N	\N	EFO	0	EFO	X-linked intellectual disability, Shashi type	X-linked intellectual disability, Shashi type
Orphanet:102283	Orphanet:85286	\N	"" []	Orphanet:85286	"" []	222772	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Shashi type
Orphanet:98464	Orphanet:85286	\N	"" []	Orphanet:85286	"" []	222773	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Shashi type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85286	"" []	579084	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Shashi type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85286	"" []	579085	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Shashi type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85286	"" []	1162725	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Shashi type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85286	"" []	1162726	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Shashi type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85286	"" []	2046378	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability, Shashi type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85286	"" []	2046379	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Shashi type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85286	"" []	4402101	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Shashi type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85286	"" []	3196453	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Shashi type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85286	"" []	5183441	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Shashi type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85286	"" []	5998772	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Shashi type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85286	"" []	6551811	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Shashi type
Orphanet:85287	\N	\N	"" []	Orphanet:85287	"" []	78195	\N	\N	EFO	0	EFO	X-linked intellectual disability, Siderius type	X-linked intellectual disability, Siderius type
Orphanet:102283	Orphanet:85287	\N	"" []	Orphanet:85287	"" []	222774	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Siderius type
Orphanet:98464	Orphanet:85287	\N	"" []	Orphanet:85287	"" []	222775	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Siderius type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85287	"" []	579086	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Siderius type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85287	"" []	579087	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Siderius type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85287	"" []	1162727	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Siderius type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85287	"" []	1162728	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Siderius type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85287	"" []	2046380	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability, Siderius type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85287	"" []	2046381	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Siderius type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85287	"" []	4402103	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Siderius type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85287	"" []	3196455	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Siderius type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85287	"" []	5183442	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Siderius type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85287	"" []	5998773	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Siderius type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85287	"" []	6551812	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Siderius type
Orphanet:85288	\N	\N	"" []	Orphanet:85288	"" []	78196	\N	\N	EFO	0	EFO	X-linked intellectual disability, Stocco Dos Santos type	X-linked intellectual disability, Stocco Dos Santos type
Orphanet:98464	Orphanet:85288	\N	"" []	Orphanet:85288	"" []	222776	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Stocco Dos Santos type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85288	"" []	579088	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Stocco Dos Santos type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85288	"" []	1162729	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Stocco Dos Santos type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85288	"" []	2046382	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Stocco Dos Santos type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85288	"" []	3196456	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Stocco Dos Santos type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85288	"" []	4402104	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Stocco Dos Santos type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85288	"" []	5418209	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Stocco Dos Santos type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85288	"" []	6152878	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Stocco Dos Santos type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85288	"" []	6634200	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Stocco Dos Santos type
Orphanet:85289	\N	\N	"" []	Orphanet:85289	"" []	78197	\N	\N	EFO	0	EFO	X-linked intellectual disability, Vitale type	X-linked intellectual disability, Vitale type
Orphanet:102283	Orphanet:85289	\N	"" []	Orphanet:85289	"" []	222777	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Vitale type
Orphanet:98464	Orphanet:85289	\N	"" []	Orphanet:85289	"" []	222778	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Vitale type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85289	"" []	579089	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Vitale type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85289	"" []	579090	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Vitale type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85289	"" []	1162730	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Vitale type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85289	"" []	1162731	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Vitale type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85289	"" []	2046383	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability, Vitale type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85289	"" []	2046384	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Vitale type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85289	"" []	4402106	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Vitale type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85289	"" []	3196458	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Vitale type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85289	"" []	5183443	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Vitale type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85289	"" []	5998774	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Vitale type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85289	"" []	6551813	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Vitale type
Orphanet:85290	\N	\N	"" []	Orphanet:85290	"" []	78198	\N	\N	EFO	0	EFO	X-linked intellectual disability, Wilson type	X-linked intellectual disability, Wilson type
Orphanet:98464	Orphanet:85290	\N	"" []	Orphanet:85290	"" []	222779	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Wilson type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85290	"" []	579091	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Wilson type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85290	"" []	1162732	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Wilson type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85290	"" []	2046385	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Wilson type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85290	"" []	3196459	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Wilson type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85290	"" []	4402107	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Wilson type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85290	"" []	5418211	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Wilson type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85290	"" []	6152880	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Wilson type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85290	"" []	6634201	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Wilson type
Orphanet:85291	\N	\N	"" []	Orphanet:85291	"" []	78199	\N	\N	EFO	0	EFO	X-linked intellectual disability, Wittwer type	X-linked intellectual disability, Wittwer type
Orphanet:102283	Orphanet:85291	\N	"" []	Orphanet:85291	"" []	222780	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Wittwer type
Orphanet:98464	Orphanet:85291	\N	"" []	Orphanet:85291	"" []	222781	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Wittwer type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85291	"" []	579092	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Wittwer type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85291	"" []	579093	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Wittwer type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85291	"" []	1162733	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Wittwer type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85291	"" []	1162734	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Wittwer type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85291	"" []	2046386	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability, Wittwer type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85291	"" []	2046387	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Wittwer type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85291	"" []	4402109	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Wittwer type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85291	"" []	3196461	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Wittwer type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85291	"" []	5183444	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Wittwer type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85291	"" []	5998775	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Wittwer type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85291	"" []	6551814	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Wittwer type
Orphanet:85292	\N	\N	"" []	Orphanet:85292	"" []	78200	\N	\N	EFO	0	EFO	X-linked spinocerebellar ataxia type 4	X-linked spinocerebellar ataxia type 4
Orphanet:183500	Orphanet:85292	\N	"" []	Orphanet:85292	"" []	222782	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	X-linked spinocerebellar ataxia type 4
Orphanet:247765	Orphanet:85292	\N	"" []	Orphanet:85292	"" []	222783	\N	\N	EFO	1	EFO	X-linked cerebellar ataxia	X-linked spinocerebellar ataxia type 4
Orphanet:98464	Orphanet:85292	\N	"" []	Orphanet:85292	"" []	222784	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked spinocerebellar ataxia type 4
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:85292	"" []	579094	\N	\N	EFO	2	EFO	neurodegenerative disease	X-linked spinocerebellar ataxia type 4
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:85292	"" []	579095	\N	\N	EFO	2	EFO	brain disease	X-linked spinocerebellar ataxia type 4
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:85292	"" []	579096	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	X-linked spinocerebellar ataxia type 4
Orphanet:183518	Orphanet:247765	\N	"" []	Orphanet:85292	"" []	579097	\N	\N	EFO	2	EFO	Rare hereditary ataxia	X-linked spinocerebellar ataxia type 4
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85292	"" []	579098	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked spinocerebellar ataxia type 4
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:85292	"" []	1162735	\N	\N	EFO	3	EFO	nervous system disease	X-linked spinocerebellar ataxia type 4
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:85292	"" []	1162736	\N	\N	EFO	3	EFO	nervous system disease	X-linked spinocerebellar ataxia type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85292	"" []	3196463	\N	\N	EFO	5	EFO	genetic disorder	X-linked spinocerebellar ataxia type 4
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:85292	"" []	1162738	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked spinocerebellar ataxia type 4
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85292	"" []	1162739	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked spinocerebellar ataxia type 4
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85292	"" []	2046388	\N	\N	EFO	4	EFO	disease	X-linked spinocerebellar ataxia type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85292	"" []	4066999	\N	\N	EFO	6	EFO	disease	X-linked spinocerebellar ataxia type 4
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85292	"" []	2046391	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked spinocerebellar ataxia type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85292	"" []	5060286	\N	\N	EFO	7	EFO	disposition	X-linked spinocerebellar ataxia type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85292	"" []	5877774	\N	\N	EFO	8	EFO	material property	X-linked spinocerebellar ataxia type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85292	"" []	6470994	\N	\N	EFO	9	EFO	experimental factor	X-linked spinocerebellar ataxia type 4
Orphanet:85293	\N	\N	"" []	Orphanet:85293	"" []	78201	\N	\N	EFO	0	EFO	X-linked intellectual disability, Cabezas type	X-linked intellectual disability, Cabezas type
Orphanet:102283	Orphanet:85293	\N	"" []	Orphanet:85293	"" []	222785	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Cabezas type
Orphanet:98464	Orphanet:85293	\N	"" []	Orphanet:85293	"" []	222786	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Cabezas type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85293	"" []	579099	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Cabezas type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85293	"" []	579100	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Cabezas type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85293	"" []	1162740	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Cabezas type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85293	"" []	1162741	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Cabezas type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85293	"" []	2046392	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability, Cabezas type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85293	"" []	2046393	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Cabezas type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85293	"" []	4402112	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Cabezas type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85293	"" []	3196465	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Cabezas type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85293	"" []	5183446	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Cabezas type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85293	"" []	5998777	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Cabezas type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85293	"" []	6551815	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Cabezas type
Orphanet:85294	\N	\N	"" []	Orphanet:85294	"" []	78202	\N	\N	EFO	0	EFO	X-linked epilepsy - learning disabilities - behavior disorders	X-linked epilepsy - learning disabilities - behavior disorders
Orphanet:166472	Orphanet:85294	\N	"" []	Orphanet:85294	"" []	222787	\N	\N	EFO	1	EFO	Monogenic disease with epilepsy	X-linked epilepsy - learning disabilities - behavior disorders
Orphanet:98464	Orphanet:85294	\N	"" []	Orphanet:85294	"" []	222788	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked epilepsy - learning disabilities - behavior disorders
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:85294	"" []	579101	\N	\N	EFO	2	EFO	Rare genetic epilepsy	X-linked epilepsy - learning disabilities - behavior disorders
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85294	"" []	579102	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked epilepsy - learning disabilities - behavior disorders
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:85294	"" []	1162742	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked epilepsy - learning disabilities - behavior disorders
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85294	"" []	1162743	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked epilepsy - learning disabilities - behavior disorders
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85294	"" []	3196467	\N	\N	EFO	5	EFO	genetic disorder	X-linked epilepsy - learning disabilities - behavior disorders
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85294	"" []	2046395	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked epilepsy - learning disabilities - behavior disorders
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85294	"" []	4134403	\N	\N	EFO	6	EFO	disease	X-linked epilepsy - learning disabilities - behavior disorders
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85294	"" []	5183447	\N	\N	EFO	7	EFO	disposition	X-linked epilepsy - learning disabilities - behavior disorders
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85294	"" []	5998778	\N	\N	EFO	8	EFO	material property	X-linked epilepsy - learning disabilities - behavior disorders
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85294	"" []	6551816	\N	\N	EFO	9	EFO	experimental factor	X-linked epilepsy - learning disabilities - behavior disorders
Orphanet:85295	\N	\N	"" []	Orphanet:85295	"" []	78203	\N	\N	EFO	0	EFO	HSD10 disease, atypical type	HSD10 disease, atypical type
Orphanet:391417	Orphanet:85295	\N	"" []	Orphanet:85295	"" []	222789	\N	\N	EFO	1	EFO	HSD10 disease	HSD10 disease, atypical type
Orphanet:68385	Orphanet:391417	\N	"" []	Orphanet:85295	"" []	579103	\N	\N	EFO	2	EFO	Neurometabolic disease	HSD10 disease, atypical type
Orphanet:79158	Orphanet:391417	\N	"" []	Orphanet:85295	"" []	579104	\N	\N	EFO	2	EFO	Cerebral organic aciduria	HSD10 disease, atypical type
Orphanet:98464	Orphanet:391417	\N	"" []	Orphanet:85295	"" []	579105	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	HSD10 disease, atypical type
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:85295	"" []	1162744	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	HSD10 disease, atypical type
Orphanet:289899	Orphanet:79158	\N	"" []	Orphanet:85295	"" []	1162745	\N	\N	EFO	3	EFO	Organic aciduria	HSD10 disease, atypical type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85295	"" []	1162746	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	HSD10 disease, atypical type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85295	"" []	4402117	\N	\N	EFO	6	EFO	genetic disorder	HSD10 disease, atypical type
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:85295	"" []	2046397	\N	\N	EFO	4	EFO	Disorder of amino acid and other organic acid metabolism	HSD10 disease, atypical type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85295	"" []	2046398	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	HSD10 disease, atypical type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85295	"" []	5060287	\N	\N	EFO	7	EFO	disease	HSD10 disease, atypical type
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:85295	"" []	3196469	\N	\N	EFO	5	EFO	Inborn errors of metabolism	HSD10 disease, atypical type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85295	"" []	3196470	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	HSD10 disease, atypical type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85295	"" []	5877775	\N	\N	EFO	8	EFO	disposition	HSD10 disease, atypical type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85295	"" []	4402115	\N	\N	EFO	6	EFO	genetic disorder	HSD10 disease, atypical type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:85295	"" []	4402116	\N	\N	EFO	6	EFO	metabolic disease	HSD10 disease, atypical type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85295	"" []	6470995	\N	\N	EFO	9	EFO	material property	HSD10 disease, atypical type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85295	"" []	5418217	\N	\N	EFO	7	EFO	disease	HSD10 disease, atypical type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85295	"" []	6848832	\N	\N	EFO	10	EFO	experimental factor	HSD10 disease, atypical type
Orphanet:85297	\N	\N	"" []	Orphanet:85297	"" []	78204	\N	\N	EFO	0	EFO	X-linked spinocerebellar ataxia type 3	X-linked spinocerebellar ataxia type 3
Orphanet:247765	Orphanet:85297	\N	"" []	Orphanet:85297	"" []	222790	\N	\N	EFO	1	EFO	X-linked cerebellar ataxia	X-linked spinocerebellar ataxia type 3
Orphanet:98464	Orphanet:85297	\N	"" []	Orphanet:85297	"" []	222791	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked spinocerebellar ataxia type 3
Orphanet:183518	Orphanet:247765	\N	"" []	Orphanet:85297	"" []	579106	\N	\N	EFO	2	EFO	Rare hereditary ataxia	X-linked spinocerebellar ataxia type 3
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85297	"" []	579107	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked spinocerebellar ataxia type 3
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:85297	"" []	1162747	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked spinocerebellar ataxia type 3
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85297	"" []	1162748	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked spinocerebellar ataxia type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85297	"" []	3196472	\N	\N	EFO	5	EFO	genetic disorder	X-linked spinocerebellar ataxia type 3
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85297	"" []	2046400	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked spinocerebellar ataxia type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85297	"" []	4134404	\N	\N	EFO	6	EFO	disease	X-linked spinocerebellar ataxia type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85297	"" []	5183448	\N	\N	EFO	7	EFO	disposition	X-linked spinocerebellar ataxia type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85297	"" []	5998779	\N	\N	EFO	8	EFO	material property	X-linked spinocerebellar ataxia type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85297	"" []	6551817	\N	\N	EFO	9	EFO	experimental factor	X-linked spinocerebellar ataxia type 3
Orphanet:85317	\N	\N	"" []	Orphanet:85317	"" []	78205	\N	\N	EFO	0	EFO	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
Orphanet:102283	Orphanet:85317	\N	"" []	Orphanet:85317	"" []	222792	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
Orphanet:98464	Orphanet:85317	\N	"" []	Orphanet:85317	"" []	222793	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85317	"" []	579108	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85317	"" []	579109	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85317	"" []	1162749	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85317	"" []	1162750	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85317	"" []	2046401	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85317	"" []	2046402	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85317	"" []	4402120	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85317	"" []	3196474	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85317	"" []	5183449	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85317	"" []	5998780	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85317	"" []	6551818	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
Orphanet:85318	\N	\N	"" []	Orphanet:85318	"" []	78206	\N	\N	EFO	0	EFO	X-linked intellectual disability - precocious puberty - obesity	X-linked intellectual disability - precocious puberty - obesity
Orphanet:98464	Orphanet:85318	\N	"" []	Orphanet:85318	"" []	222794	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - precocious puberty - obesity
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85318	"" []	579110	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - precocious puberty - obesity
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85318	"" []	1162751	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - precocious puberty - obesity
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85318	"" []	2046403	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - precocious puberty - obesity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85318	"" []	3196475	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - precocious puberty - obesity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85318	"" []	4402121	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - precocious puberty - obesity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85318	"" []	5418220	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - precocious puberty - obesity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85318	"" []	6152887	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - precocious puberty - obesity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85318	"" []	6634202	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - precocious puberty - obesity
Orphanet:85319	\N	\N	"" []	Orphanet:85319	"" []	78207	\N	\N	EFO	0	EFO	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
Orphanet:102283	Orphanet:85319	\N	"" []	Orphanet:85319	"" []	222795	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
Orphanet:98464	Orphanet:85319	\N	"" []	Orphanet:85319	"" []	222796	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85319	"" []	579111	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85319	"" []	579112	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85319	"" []	1162752	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85319	"" []	1162753	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85319	"" []	2046404	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85319	"" []	2046405	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85319	"" []	4402123	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85319	"" []	3196477	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85319	"" []	5183450	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85319	"" []	5998781	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85319	"" []	6551819	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
Orphanet:85320	\N	\N	"" []	Orphanet:85320	"" []	78208	\N	\N	EFO	0	EFO	X-linked intellectual disability - macrocephaly - macroorchidism	X-linked intellectual disability - macrocephaly - macroorchidism
Orphanet:98464	Orphanet:85320	\N	"" []	Orphanet:85320	"" []	222797	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - macrocephaly - macroorchidism
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85320	"" []	579113	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - macrocephaly - macroorchidism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85320	"" []	1162754	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - macrocephaly - macroorchidism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85320	"" []	2046406	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - macrocephaly - macroorchidism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85320	"" []	3196478	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - macrocephaly - macroorchidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85320	"" []	4402124	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - macrocephaly - macroorchidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85320	"" []	5418222	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - macrocephaly - macroorchidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85320	"" []	6152889	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - macrocephaly - macroorchidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85320	"" []	6634203	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - macrocephaly - macroorchidism
Orphanet:85321	\N	\N	"" []	Orphanet:85321	"" []	78209	\N	\N	EFO	0	EFO	Deafness - intellectual disability, Martin-Probst type	Deafness - intellectual disability, Martin-Probst type
Orphanet:102283	Orphanet:85321	\N	"" []	Orphanet:85321	"" []	222798	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Deafness - intellectual disability, Martin-Probst type
Orphanet:90642	Orphanet:85321	\N	"" []	Orphanet:85321	"" []	222799	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness - intellectual disability, Martin-Probst type
Orphanet:98464	Orphanet:85321	\N	"" []	Orphanet:85321	"" []	222800	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Deafness - intellectual disability, Martin-Probst type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85321	"" []	579114	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Deafness - intellectual disability, Martin-Probst type
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:85321	"" []	579115	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness - intellectual disability, Martin-Probst type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85321	"" []	579116	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Deafness - intellectual disability, Martin-Probst type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85321	"" []	1162755	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Deafness - intellectual disability, Martin-Probst type
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85321	"" []	1162756	\N	\N	EFO	3	EFO	genetic disorder	Deafness - intellectual disability, Martin-Probst type
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:85321	"" []	1162757	\N	\N	EFO	3	EFO	auditory system disease	Deafness - intellectual disability, Martin-Probst type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85321	"" []	1162758	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Deafness - intellectual disability, Martin-Probst type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85321	"" []	2046407	\N	\N	EFO	4	EFO	genetic disorder	Deafness - intellectual disability, Martin-Probst type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85321	"" []	4402127	\N	\N	EFO	6	EFO	disease	Deafness - intellectual disability, Martin-Probst type
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:85321	"" []	2046409	\N	\N	EFO	4	EFO	sensory system disease	Deafness - intellectual disability, Martin-Probst type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85321	"" []	2046410	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Deafness - intellectual disability, Martin-Probst type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85321	"" []	5060288	\N	\N	EFO	7	EFO	disposition	Deafness - intellectual disability, Martin-Probst type
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:85321	"" []	3196481	\N	\N	EFO	5	EFO	nervous system disease	Deafness - intellectual disability, Martin-Probst type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85321	"" []	3196482	\N	\N	EFO	5	EFO	genetic disorder	Deafness - intellectual disability, Martin-Probst type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85321	"" []	5877776	\N	\N	EFO	8	EFO	material property	Deafness - intellectual disability, Martin-Probst type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85321	"" []	4402126	\N	\N	EFO	6	EFO	disease	Deafness - intellectual disability, Martin-Probst type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85321	"" []	6470996	\N	\N	EFO	9	EFO	experimental factor	Deafness - intellectual disability, Martin-Probst type
Orphanet:85322	\N	\N	"" []	Orphanet:85322	"" []	78210	\N	\N	EFO	0	EFO	X-linked intellectual disability, Pai type	X-linked intellectual disability, Pai type
Orphanet:102283	Orphanet:85322	\N	"" []	Orphanet:85322	"" []	222801	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Pai type
Orphanet:98464	Orphanet:85322	\N	"" []	Orphanet:85322	"" []	222802	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Pai type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85322	"" []	579117	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Pai type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85322	"" []	579118	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Pai type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85322	"" []	1162759	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Pai type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85322	"" []	1162760	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Pai type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85322	"" []	2046411	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability, Pai type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85322	"" []	2046412	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Pai type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85322	"" []	4402129	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Pai type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85322	"" []	3196484	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Pai type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85322	"" []	5183452	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Pai type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85322	"" []	5998783	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Pai type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85322	"" []	6551820	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Pai type
Orphanet:85323	\N	\N	"" []	Orphanet:85323	"" []	78211	\N	\N	EFO	0	EFO	X-linked intellectual disability, Seemanova type	X-linked intellectual disability, Seemanova type
Orphanet:98464	Orphanet:85323	\N	"" []	Orphanet:85323	"" []	222803	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Seemanova type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85323	"" []	579119	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Seemanova type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85323	"" []	1162761	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Seemanova type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85323	"" []	2046413	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Seemanova type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85323	"" []	3196485	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Seemanova type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85323	"" []	4402130	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Seemanova type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85323	"" []	5418225	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Seemanova type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85323	"" []	6152891	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Seemanova type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85323	"" []	6634204	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Seemanova type
Orphanet:85324	\N	\N	"" []	Orphanet:85324	"" []	78212	\N	\N	EFO	0	EFO	X-linked intellectual disability, Shrimpton type	X-linked intellectual disability, Shrimpton type
Orphanet:98464	Orphanet:85324	\N	"" []	Orphanet:85324	"" []	222804	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Shrimpton type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85324	"" []	579120	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Shrimpton type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85324	"" []	1162762	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Shrimpton type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85324	"" []	2046414	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Shrimpton type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85324	"" []	3196486	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Shrimpton type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85324	"" []	4402131	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Shrimpton type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85324	"" []	5418226	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Shrimpton type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85324	"" []	6152892	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Shrimpton type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85324	"" []	6634205	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Shrimpton type
Orphanet:85325	\N	\N	"" []	Orphanet:85325	"" []	78213	\N	\N	EFO	0	EFO	X-linked intellectual disability, Stevenson type	X-linked intellectual disability, Stevenson type
Orphanet:102283	Orphanet:85325	\N	"" []	Orphanet:85325	"" []	222805	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Stevenson type
Orphanet:98464	Orphanet:85325	\N	"" []	Orphanet:85325	"" []	222806	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Stevenson type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85325	"" []	579121	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Stevenson type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85325	"" []	579122	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Stevenson type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85325	"" []	1162763	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Stevenson type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85325	"" []	1162764	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Stevenson type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85325	"" []	2046415	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability, Stevenson type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85325	"" []	2046416	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Stevenson type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85325	"" []	4402133	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Stevenson type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85325	"" []	3196488	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Stevenson type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85325	"" []	5183453	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Stevenson type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85325	"" []	5998784	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Stevenson type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85325	"" []	6551821	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Stevenson type
Orphanet:85326	\N	\N	"" []	Orphanet:85326	"" []	78214	\N	\N	EFO	0	EFO	X-linked intellectual disability, Stoll type	X-linked intellectual disability, Stoll type
Orphanet:102283	Orphanet:85326	\N	"" []	Orphanet:85326	"" []	222807	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Stoll type
Orphanet:98464	Orphanet:85326	\N	"" []	Orphanet:85326	"" []	222808	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Stoll type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85326	"" []	579123	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Stoll type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85326	"" []	579124	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Stoll type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85326	"" []	1162765	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Stoll type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85326	"" []	1162766	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Stoll type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85326	"" []	2046417	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability, Stoll type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85326	"" []	2046418	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Stoll type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85326	"" []	4402135	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Stoll type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85326	"" []	3196490	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Stoll type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85326	"" []	5183454	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Stoll type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85326	"" []	5998785	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Stoll type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85326	"" []	6551822	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Stoll type
Orphanet:85327	\N	\N	"" []	Orphanet:85327	"" []	78215	\N	\N	EFO	0	EFO	X-linked intellectual disability - acromegaly - hyperactivity	X-linked intellectual disability - acromegaly - hyperactivity
Orphanet:98464	Orphanet:85327	\N	"" []	Orphanet:85327	"" []	222809	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - acromegaly - hyperactivity
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85327	"" []	579125	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - acromegaly - hyperactivity
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85327	"" []	1162767	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - acromegaly - hyperactivity
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85327	"" []	2046419	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - acromegaly - hyperactivity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85327	"" []	3196491	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - acromegaly - hyperactivity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85327	"" []	4402136	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - acromegaly - hyperactivity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85327	"" []	5418229	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - acromegaly - hyperactivity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85327	"" []	6152895	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - acromegaly - hyperactivity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85327	"" []	6634206	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - acromegaly - hyperactivity
Orphanet:85328	\N	\N	"" []	Orphanet:85328	"" []	78216	\N	\N	EFO	0	EFO	X-linked intellectual disability, Turner type	X-linked intellectual disability, Turner type
Orphanet:98464	Orphanet:85328	\N	"" []	Orphanet:85328	"" []	222810	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Turner type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85328	"" []	579126	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Turner type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85328	"" []	1162768	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Turner type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85328	"" []	2046420	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Turner type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85328	"" []	3196492	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Turner type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85328	"" []	4402137	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Turner type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85328	"" []	5418230	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Turner type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85328	"" []	6152896	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Turner type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85328	"" []	6634207	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Turner type
Orphanet:85329	\N	\N	"" []	Orphanet:85329	"" []	78217	\N	\N	EFO	0	EFO	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
Orphanet:102283	Orphanet:85329	\N	"" []	Orphanet:85329	"" []	222811	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
Orphanet:98464	Orphanet:85329	\N	"" []	Orphanet:85329	"" []	222812	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85329	"" []	579127	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85329	"" []	579128	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85329	"" []	1162769	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85329	"" []	1162770	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85329	"" []	2046421	\N	\N	EFO	4	EFO	genetic disorder	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85329	"" []	2046422	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85329	"" []	4402139	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85329	"" []	3196494	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85329	"" []	5183455	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85329	"" []	5998786	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85329	"" []	6551823	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
Orphanet:85330	\N	\N	"" []	Orphanet:85330	"" []	78218	\N	\N	EFO	0	EFO	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
Orphanet:269573	Orphanet:85330	\N	"" []	Orphanet:85330	"" []	222813	\N	\N	EFO	1	EFO	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
Orphanet:98464	Orphanet:85330	\N	"" []	Orphanet:85330	"" []	222814	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
Orphanet:269564	Orphanet:269573	\N	"" []	Orphanet:85330	"" []	579129	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85330	"" []	579130	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:85330	"" []	1162771	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85330	"" []	1162772	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:85330	"" []	2046423	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:85330	"" []	2046424	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85330	"" []	2046425	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85330	"" []	3196495	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85330	"" []	3196496	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85330	"" []	4402140	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85330	"" []	5418232	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85330	"" []	6152898	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85330	"" []	6634208	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
Orphanet:85331	\N	\N	"" []	Orphanet:85331	"" []	78219	\N	\N	EFO	0	EFO	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
Orphanet:281244	Orphanet:85331	\N	"" []	Orphanet:85331	"" []	222815	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
Orphanet:98464	Orphanet:85331	\N	"" []	Orphanet:85331	"" []	222816	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:85331	"" []	579131	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85331	"" []	579132	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:85331	"" []	1162773	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85331	"" []	1162774	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:85331	"" []	2046426	\N	\N	EFO	4	EFO	Inherited ichthyosis	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85331	"" []	2046427	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:85331	"" []	3196497	\N	\N	EFO	5	EFO	Genetic epidermal disorder	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85331	"" []	3196498	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:85331	"" []	4402141	\N	\N	EFO	6	EFO	Rare genetic skin disease	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85331	"" []	6152899	\N	\N	EFO	8	EFO	disease	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85331	"" []	5418233	\N	\N	EFO	7	EFO	genetic disorder	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:85331	"" []	5418234	\N	\N	EFO	7	EFO	skin disease	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85331	"" []	6470997	\N	\N	EFO	9	EFO	disposition	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85331	"" []	6152900	\N	\N	EFO	8	EFO	disease	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85331	"" []	6848833	\N	\N	EFO	10	EFO	material property	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85331	"" []	7068539	\N	\N	EFO	11	EFO	experimental factor	X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
Orphanet:85332	\N	\N	"" []	Orphanet:85332	"" []	78220	\N	\N	EFO	0	EFO	X-linked intellectual disability-retinitis pigmentosa syndrome	X-linked intellectual disability-retinitis pigmentosa syndrome
Orphanet:263731	Orphanet:85332	\N	"" []	Orphanet:85332	"" []	222817	\N	\N	EFO	1	EFO	Partial monosomy of the short arm of chromosome X	X-linked intellectual disability-retinitis pigmentosa syndrome
Orphanet:98464	Orphanet:85332	\N	"" []	Orphanet:85332	"" []	222818	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability-retinitis pigmentosa syndrome
Orphanet:263726	Orphanet:263731	\N	"" []	Orphanet:85332	"" []	579133	\N	\N	EFO	2	EFO	Partial deletion of chromosome X	X-linked intellectual disability-retinitis pigmentosa syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85332	"" []	579134	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability-retinitis pigmentosa syndrome
Orphanet:98159	Orphanet:263726	\N	"" []	Orphanet:85332	"" []	1162775	\N	\N	EFO	3	EFO	Chromosome X structural anomaly	X-linked intellectual disability-retinitis pigmentosa syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85332	"" []	1162776	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability-retinitis pigmentosa syndrome
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:85332	"" []	2046428	\N	\N	EFO	4	EFO	Gonosome structural anomaly	X-linked intellectual disability-retinitis pigmentosa syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85332	"" []	2046429	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability-retinitis pigmentosa syndrome
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:85332	"" []	3196499	\N	\N	EFO	5	EFO	Gonosome anomaly	X-linked intellectual disability-retinitis pigmentosa syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85332	"" []	3196500	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability-retinitis pigmentosa syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:85332	"" []	4402143	\N	\N	EFO	6	EFO	Chromosomal anomaly	X-linked intellectual disability-retinitis pigmentosa syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85332	"" []	6152902	\N	\N	EFO	8	EFO	disease	X-linked intellectual disability-retinitis pigmentosa syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85332	"" []	5418236	\N	\N	EFO	7	EFO	genetic disorder	X-linked intellectual disability-retinitis pigmentosa syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85332	"" []	6470998	\N	\N	EFO	9	EFO	disposition	X-linked intellectual disability-retinitis pigmentosa syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85332	"" []	6848834	\N	\N	EFO	10	EFO	material property	X-linked intellectual disability-retinitis pigmentosa syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85332	"" []	7068540	\N	\N	EFO	11	EFO	experimental factor	X-linked intellectual disability-retinitis pigmentosa syndrome
Orphanet:85334	\N	\N	"" []	Orphanet:85334	"" []	78221	\N	\N	EFO	0	EFO	X-linked neurodegenerative syndrome, Bertini type	X-linked neurodegenerative syndrome, Bertini type
Orphanet:183500	Orphanet:85334	\N	"" []	Orphanet:85334	"" []	222819	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	X-linked neurodegenerative syndrome, Bertini type
Orphanet:98464	Orphanet:85334	\N	"" []	Orphanet:85334	"" []	222820	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked neurodegenerative syndrome, Bertini type
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:85334	"" []	579135	\N	\N	EFO	2	EFO	neurodegenerative disease	X-linked neurodegenerative syndrome, Bertini type
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:85334	"" []	579136	\N	\N	EFO	2	EFO	brain disease	X-linked neurodegenerative syndrome, Bertini type
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:85334	"" []	579137	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	X-linked neurodegenerative syndrome, Bertini type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85334	"" []	579138	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked neurodegenerative syndrome, Bertini type
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:85334	"" []	1162777	\N	\N	EFO	3	EFO	nervous system disease	X-linked neurodegenerative syndrome, Bertini type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:85334	"" []	1162778	\N	\N	EFO	3	EFO	nervous system disease	X-linked neurodegenerative syndrome, Bertini type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85334	"" []	3196502	\N	\N	EFO	5	EFO	genetic disorder	X-linked neurodegenerative syndrome, Bertini type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85334	"" []	1162780	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked neurodegenerative syndrome, Bertini type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85334	"" []	2046430	\N	\N	EFO	4	EFO	disease	X-linked neurodegenerative syndrome, Bertini type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85334	"" []	4067000	\N	\N	EFO	6	EFO	disease	X-linked neurodegenerative syndrome, Bertini type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85334	"" []	2046432	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked neurodegenerative syndrome, Bertini type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85334	"" []	5060289	\N	\N	EFO	7	EFO	disposition	X-linked neurodegenerative syndrome, Bertini type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85334	"" []	5877777	\N	\N	EFO	8	EFO	material property	X-linked neurodegenerative syndrome, Bertini type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85334	"" []	6470999	\N	\N	EFO	9	EFO	experimental factor	X-linked neurodegenerative syndrome, Bertini type
Orphanet:85335	\N	\N	"" []	Orphanet:85335	"" []	78222	\N	\N	EFO	0	EFO	Fried syndrome	Fried syndrome
Orphanet:102283	Orphanet:85335	\N	"" []	Orphanet:85335	"" []	222821	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Fried syndrome
Orphanet:98464	Orphanet:85335	\N	"" []	Orphanet:85335	"" []	222822	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Fried syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:85335	"" []	579139	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Fried syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85335	"" []	579140	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Fried syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:85335	"" []	1162781	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fried syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85335	"" []	1162782	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Fried syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85335	"" []	2046433	\N	\N	EFO	4	EFO	genetic disorder	Fried syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85335	"" []	2046434	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Fried syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85335	"" []	4402147	\N	\N	EFO	6	EFO	disease	Fried syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85335	"" []	3196504	\N	\N	EFO	5	EFO	genetic disorder	Fried syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85335	"" []	5183456	\N	\N	EFO	7	EFO	disposition	Fried syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85335	"" []	5998787	\N	\N	EFO	8	EFO	material property	Fried syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85335	"" []	6551824	\N	\N	EFO	9	EFO	experimental factor	Fried syndrome
Orphanet:85336	\N	\N	"" []	Orphanet:85336	"" []	78223	\N	\N	EFO	0	EFO	X-linked neurodegenerative syndrome, Hamel type	X-linked neurodegenerative syndrome, Hamel type
Orphanet:183500	Orphanet:85336	\N	"" []	Orphanet:85336	"" []	222823	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease	X-linked neurodegenerative syndrome, Hamel type
Orphanet:98464	Orphanet:85336	\N	"" []	Orphanet:85336	"" []	222824	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked neurodegenerative syndrome, Hamel type
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:85336	"" []	579141	\N	\N	EFO	2	EFO	neurodegenerative disease	X-linked neurodegenerative syndrome, Hamel type
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:85336	"" []	579142	\N	\N	EFO	2	EFO	brain disease	X-linked neurodegenerative syndrome, Hamel type
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:85336	"" []	579143	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	X-linked neurodegenerative syndrome, Hamel type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85336	"" []	579144	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked neurodegenerative syndrome, Hamel type
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:85336	"" []	1162783	\N	\N	EFO	3	EFO	nervous system disease	X-linked neurodegenerative syndrome, Hamel type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:85336	"" []	1162784	\N	\N	EFO	3	EFO	nervous system disease	X-linked neurodegenerative syndrome, Hamel type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85336	"" []	3196506	\N	\N	EFO	5	EFO	genetic disorder	X-linked neurodegenerative syndrome, Hamel type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85336	"" []	1162786	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked neurodegenerative syndrome, Hamel type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85336	"" []	2046435	\N	\N	EFO	4	EFO	disease	X-linked neurodegenerative syndrome, Hamel type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85336	"" []	4067001	\N	\N	EFO	6	EFO	disease	X-linked neurodegenerative syndrome, Hamel type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85336	"" []	2046437	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked neurodegenerative syndrome, Hamel type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85336	"" []	5060290	\N	\N	EFO	7	EFO	disposition	X-linked neurodegenerative syndrome, Hamel type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85336	"" []	5877778	\N	\N	EFO	8	EFO	material property	X-linked neurodegenerative syndrome, Hamel type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85336	"" []	6471000	\N	\N	EFO	9	EFO	experimental factor	X-linked neurodegenerative syndrome, Hamel type
Orphanet:85337	\N	\N	"" []	Orphanet:85337	"" []	78224	\N	\N	EFO	0	EFO	X-linked intellectual disability, Zorick type	X-linked intellectual disability, Zorick type
Orphanet:98464	Orphanet:85337	\N	"" []	Orphanet:85337	"" []	222825	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Zorick type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85337	"" []	579145	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Zorick type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85337	"" []	1162787	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Zorick type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85337	"" []	2046438	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Zorick type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85337	"" []	3196507	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability, Zorick type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85337	"" []	4402149	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability, Zorick type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85337	"" []	5418241	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability, Zorick type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85337	"" []	6152905	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability, Zorick type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85337	"" []	6634211	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability, Zorick type
Orphanet:85338	\N	\N	"" []	Orphanet:85338	"" []	78225	\N	\N	EFO	0	EFO	X-linked intellectual disability - ataxia - apraxia	X-linked intellectual disability - ataxia - apraxia
Orphanet:247765	Orphanet:85338	\N	"" []	Orphanet:85338	"" []	222826	\N	\N	EFO	1	EFO	X-linked cerebellar ataxia	X-linked intellectual disability - ataxia - apraxia
Orphanet:98464	Orphanet:85338	\N	"" []	Orphanet:85338	"" []	222827	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability - ataxia - apraxia
Orphanet:183518	Orphanet:247765	\N	"" []	Orphanet:85338	"" []	579146	\N	\N	EFO	2	EFO	Rare hereditary ataxia	X-linked intellectual disability - ataxia - apraxia
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:85338	"" []	579147	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability - ataxia - apraxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:85338	"" []	1162788	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked intellectual disability - ataxia - apraxia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:85338	"" []	1162789	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked intellectual disability - ataxia - apraxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85338	"" []	3196509	\N	\N	EFO	5	EFO	genetic disorder	X-linked intellectual disability - ataxia - apraxia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:85338	"" []	2046440	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability - ataxia - apraxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85338	"" []	4134406	\N	\N	EFO	6	EFO	disease	X-linked intellectual disability - ataxia - apraxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85338	"" []	5183457	\N	\N	EFO	7	EFO	disposition	X-linked intellectual disability - ataxia - apraxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85338	"" []	5998788	\N	\N	EFO	8	EFO	material property	X-linked intellectual disability - ataxia - apraxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85338	"" []	6551825	\N	\N	EFO	9	EFO	experimental factor	X-linked intellectual disability - ataxia - apraxia
Orphanet:85442	\N	\N	"" []	Orphanet:85442	"" []	78226	\N	\N	EFO	0	EFO	Short stature - pituitary and cerebellar defects - small sella turcica	Short stature - pituitary and cerebellar defects - small sella turcica
Orphanet:95495	Orphanet:85442	\N	"" []	Orphanet:85442	"" []	222828	\N	\N	EFO	1	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Short stature - pituitary and cerebellar defects - small sella turcica
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:85442	"" []	579148	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	Short stature - pituitary and cerebellar defects - small sella turcica
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:85442	"" []	1162790	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Short stature - pituitary and cerebellar defects - small sella turcica
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:85442	"" []	2046441	\N	\N	EFO	4	EFO	Pituitary deficiency	Short stature - pituitary and cerebellar defects - small sella turcica
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:85442	"" []	3196510	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Short stature - pituitary and cerebellar defects - small sella turcica
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:85442	"" []	4402151	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Short stature - pituitary and cerebellar defects - small sella turcica
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85442	"" []	5418243	\N	\N	EFO	7	EFO	genetic disorder	Short stature - pituitary and cerebellar defects - small sella turcica
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:85442	"" []	5418244	\N	\N	EFO	7	EFO	endocrine system disease	Short stature - pituitary and cerebellar defects - small sella turcica
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85442	"" []	6152907	\N	\N	EFO	8	EFO	disease	Short stature - pituitary and cerebellar defects - small sella turcica
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85442	"" []	6152908	\N	\N	EFO	8	EFO	disease	Short stature - pituitary and cerebellar defects - small sella turcica
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85442	"" []	6634212	\N	\N	EFO	9	EFO	disposition	Short stature - pituitary and cerebellar defects - small sella turcica
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85442	"" []	6926266	\N	\N	EFO	10	EFO	material property	Short stature - pituitary and cerebellar defects - small sella turcica
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85442	"" []	7099313	\N	\N	EFO	11	EFO	experimental factor	Short stature - pituitary and cerebellar defects - small sella turcica
Orphanet:85443	\N	\N	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	78227	\N	\N	EFO	0	EFO	AL amyloidosis	AL amyloidosis
EFO:1001875	Orphanet:85443	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	222829	\N	\N	EFO	1	EFO	amyloidosis	AL amyloidosis
Orphanet:99739	Orphanet:85443	\N	"" []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	222830	\N	\N	EFO	1	EFO	Rare familial disorder with hypertrophic cardiomyopathy	AL amyloidosis
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	579149	\N	\N	EFO	2	EFO	acquired metabolic disease	AL amyloidosis
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	579150	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	AL amyloidosis
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	1162791	\N	\N	EFO	3	EFO	metabolic disease	AL amyloidosis
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	1162792	\N	\N	EFO	3	EFO	genetic disorder	AL amyloidosis
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	1162793	\N	\N	EFO	3	EFO	heart disease	AL amyloidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	2046442	\N	\N	EFO	4	EFO	disease	AL amyloidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	2046443	\N	\N	EFO	4	EFO	disease	AL amyloidosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	2046444	\N	\N	EFO	4	EFO	cardiovascular disease	AL amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	4402153	\N	\N	EFO	6	EFO	disposition	AL amyloidosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	3196512	\N	\N	EFO	5	EFO	disease	AL amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	5183458	\N	\N	EFO	7	EFO	material property	AL amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85443	"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." []	5998789	\N	\N	EFO	8	EFO	experimental factor	AL amyloidosis
Orphanet:85447	\N	\N	"" []	Orphanet:85447	"" []	78228	\N	\N	EFO	0	EFO	Familial amyloid polyneuropathy	Familial amyloid polyneuropathy
Orphanet:207021	Orphanet:85447	\N	"" []	Orphanet:85447	"" []	222831	\N	\N	EFO	1	EFO	Rare hereditary systemic disease with peripheral neuropathy	Familial amyloid polyneuropathy
Orphanet:271861	Orphanet:85447	\N	"" []	Orphanet:85447	"" []	222832	\N	\N	EFO	1	EFO	Familial transthyretin-related amyloidosis	Familial amyloid polyneuropathy
Orphanet:207015	Orphanet:207021	\N	"" []	Orphanet:85447	"" []	579151	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Familial amyloid polyneuropathy
EFO:1001875	Orphanet:271861	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	Orphanet:85447	"" []	579152	\N	\N	EFO	2	EFO	amyloidosis	Familial amyloid polyneuropathy
Orphanet:271870	Orphanet:271861	\N	"" []	Orphanet:85447	"" []	579153	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Familial amyloid polyneuropathy
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:85447	"" []	1162794	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Familial amyloid polyneuropathy
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	Orphanet:85447	"" []	1162795	\N	\N	EFO	3	EFO	acquired metabolic disease	Familial amyloid polyneuropathy
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85447	"" []	1162796	\N	\N	EFO	3	EFO	genetic disorder	Familial amyloid polyneuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:85447	"" []	2046445	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Familial amyloid polyneuropathy
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:85447	"" []	2046446	\N	\N	EFO	4	EFO	metabolic disease	Familial amyloid polyneuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85447	"" []	4402154	\N	\N	EFO	6	EFO	disease	Familial amyloid polyneuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85447	"" []	3196513	\N	\N	EFO	5	EFO	genetic disorder	Familial amyloid polyneuropathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85447	"" []	3196514	\N	\N	EFO	5	EFO	disease	Familial amyloid polyneuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85447	"" []	5060291	\N	\N	EFO	7	EFO	disposition	Familial amyloid polyneuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85447	"" []	5877779	\N	\N	EFO	8	EFO	material property	Familial amyloid polyneuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85447	"" []	6471001	\N	\N	EFO	9	EFO	experimental factor	Familial amyloid polyneuropathy
Orphanet:85448	\N	\N	"" []	Orphanet:85448	"" []	78229	\N	\N	EFO	0	EFO	Familial amyloidosis, Finnish type	Familial amyloidosis, Finnish type
EFO:1001875	Orphanet:85448	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	Orphanet:85448	"" []	222833	\N	\N	EFO	1	EFO	amyloidosis	Familial amyloidosis, Finnish type
Orphanet:207021	Orphanet:85448	\N	"" []	Orphanet:85448	"" []	222834	\N	\N	EFO	1	EFO	Rare hereditary systemic disease with peripheral neuropathy	Familial amyloidosis, Finnish type
Orphanet:98628	Orphanet:85448	\N	"" []	Orphanet:85448	"" []	222835	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	Familial amyloidosis, Finnish type
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	Orphanet:85448	"" []	579154	\N	\N	EFO	2	EFO	acquired metabolic disease	Familial amyloidosis, Finnish type
Orphanet:207015	Orphanet:207021	\N	"" []	Orphanet:85448	"" []	579155	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Familial amyloidosis, Finnish type
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:85448	"" []	579156	\N	\N	EFO	2	EFO	Corneal dystrophy	Familial amyloidosis, Finnish type
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:85448	"" []	1162797	\N	\N	EFO	3	EFO	metabolic disease	Familial amyloidosis, Finnish type
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:85448	"" []	1162798	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Familial amyloidosis, Finnish type
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:85448	"" []	1162799	\N	\N	EFO	3	EFO	Rare genetic eye disease	Familial amyloidosis, Finnish type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85448	"" []	2046448	\N	\N	EFO	4	EFO	disease	Familial amyloidosis, Finnish type
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:85448	"" []	2046449	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Familial amyloidosis, Finnish type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85448	"" []	2046450	\N	\N	EFO	4	EFO	genetic disorder	Familial amyloidosis, Finnish type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:85448	"" []	2046451	\N	\N	EFO	4	EFO	eye disease	Familial amyloidosis, Finnish type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85448	"" []	5183461	\N	\N	EFO	7	EFO	disposition	Familial amyloidosis, Finnish type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85448	"" []	3196517	\N	\N	EFO	5	EFO	genetic disorder	Familial amyloidosis, Finnish type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85448	"" []	4402158	\N	\N	EFO	6	EFO	disease	Familial amyloidosis, Finnish type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85448	"" []	3196519	\N	\N	EFO	5	EFO	disease	Familial amyloidosis, Finnish type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85448	"" []	5877780	\N	\N	EFO	8	EFO	material property	Familial amyloidosis, Finnish type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85448	"" []	6471002	\N	\N	EFO	9	EFO	experimental factor	Familial amyloidosis, Finnish type
Orphanet:85450	\N	\N	"" []	Orphanet:85450	"" []	78230	\N	\N	EFO	0	EFO	Familial renal amyloidosis	Familial renal amyloidosis
Orphanet:183586	Orphanet:85450	\N	"" []	Orphanet:85450	"" []	222836	\N	\N	EFO	1	EFO	Genetic glomerular disease	Familial renal amyloidosis
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:85450	"" []	579157	\N	\N	EFO	2	EFO	Rare genetic renal disease	Familial renal amyloidosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85450	"" []	1162800	\N	\N	EFO	3	EFO	genetic disorder	Familial renal amyloidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85450	"" []	2046452	\N	\N	EFO	4	EFO	disease	Familial renal amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85450	"" []	3196520	\N	\N	EFO	5	EFO	disposition	Familial renal amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85450	"" []	4402160	\N	\N	EFO	6	EFO	material property	Familial renal amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85450	"" []	5418248	\N	\N	EFO	7	EFO	experimental factor	Familial renal amyloidosis
Orphanet:85451	\N	\N	"" []	Orphanet:85451	"" []	78231	\N	\N	EFO	0	EFO	ATTRV122I amyloidosis	ATTRV122I amyloidosis
EFO:1001984	Orphanet:85451	\N	"Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]" []	Orphanet:85451	"" []	222837	\N	\N	EFO	1	EFO	cardiac amyloidosis	ATTRV122I amyloidosis
Orphanet:217635	Orphanet:85451	\N	"" []	Orphanet:85451	"" []	222838	\N	\N	EFO	1	EFO	Familial restrictive cardiomyopathy	ATTRV122I amyloidosis
Orphanet:271861	Orphanet:85451	\N	"" []	Orphanet:85451	"" []	222839	\N	\N	EFO	1	EFO	Familial transthyretin-related amyloidosis	ATTRV122I amyloidosis
EFO:1001875	EFO:1001984	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	Orphanet:85451	"" []	579158	\N	\N	EFO	2	EFO	amyloidosis	ATTRV122I amyloidosis
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:85451	"" []	579159	\N	\N	EFO	2	EFO	cardiomyopathy	ATTRV122I amyloidosis
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:85451	"" []	579160	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	ATTRV122I amyloidosis
EFO:1001875	Orphanet:271861	\N	"A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." []	Orphanet:85451	"" []	579161	\N	\N	EFO	2	EFO	amyloidosis	ATTRV122I amyloidosis
Orphanet:271870	Orphanet:271861	\N	"" []	Orphanet:85451	"" []	579162	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	ATTRV122I amyloidosis
EFO:1000639	EFO:1001875	\N	"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption" []	Orphanet:85451	"" []	1162801	\N	\N	EFO	3	EFO	acquired metabolic disease	ATTRV122I amyloidosis
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:85451	"" []	1162802	\N	\N	EFO	3	EFO	heart disease	ATTRV122I amyloidosis
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85451	"" []	1162803	\N	\N	EFO	3	EFO	genetic disorder	ATTRV122I amyloidosis
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:85451	"" []	1162804	\N	\N	EFO	3	EFO	heart disease	ATTRV122I amyloidosis
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85451	"" []	1162805	\N	\N	EFO	3	EFO	genetic disorder	ATTRV122I amyloidosis
EFO:0000589	EFO:1000639	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:85451	"" []	2046453	\N	\N	EFO	4	EFO	metabolic disease	ATTRV122I amyloidosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:85451	"" []	2046454	\N	\N	EFO	4	EFO	cardiovascular disease	ATTRV122I amyloidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85451	"" []	2046455	\N	\N	EFO	4	EFO	disease	ATTRV122I amyloidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85451	"" []	3196521	\N	\N	EFO	5	EFO	disease	ATTRV122I amyloidosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85451	"" []	3196522	\N	\N	EFO	5	EFO	disease	ATTRV122I amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85451	"" []	4402161	\N	\N	EFO	6	EFO	disposition	ATTRV122I amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85451	"" []	5183462	\N	\N	EFO	7	EFO	material property	ATTRV122I amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85451	"" []	5998792	\N	\N	EFO	8	EFO	experimental factor	ATTRV122I amyloidosis
Orphanet:85453	\N	\N	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	78232	\N	\N	EFO	0	EFO	X-linked reticulate pigmentary disorder with systemic manifestations	X-linked reticulate pigmentary disorder with systemic manifestations
Orphanet:183466	Orphanet:85453	\N	"" []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	222840	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	X-linked reticulate pigmentary disorder with systemic manifestations
Orphanet:271870	Orphanet:85453	\N	"" []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	222841	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	X-linked reticulate pigmentary disorder with systemic manifestations
Orphanet:98628	Orphanet:85453	\N	"" []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	222842	\N	\N	EFO	1	EFO	Syndromic corneal dystrophy	X-linked reticulate pigmentary disorder with systemic manifestations
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	579163	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	X-linked reticulate pigmentary disorder with systemic manifestations
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	579164	\N	\N	EFO	2	EFO	genetic disorder	X-linked reticulate pigmentary disorder with systemic manifestations
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	579165	\N	\N	EFO	2	EFO	Corneal dystrophy	X-linked reticulate pigmentary disorder with systemic manifestations
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	1162806	\N	\N	EFO	3	EFO	Rare genetic skin disease	X-linked reticulate pigmentary disorder with systemic manifestations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	3196524	\N	\N	EFO	5	EFO	disease	X-linked reticulate pigmentary disorder with systemic manifestations
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	1162808	\N	\N	EFO	3	EFO	Rare genetic eye disease	X-linked reticulate pigmentary disorder with systemic manifestations
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	2046456	\N	\N	EFO	4	EFO	genetic disorder	X-linked reticulate pigmentary disorder with systemic manifestations
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	2046457	\N	\N	EFO	4	EFO	skin disease	X-linked reticulate pigmentary disorder with systemic manifestations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	4067002	\N	\N	EFO	6	EFO	disposition	X-linked reticulate pigmentary disorder with systemic manifestations
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	2046459	\N	\N	EFO	4	EFO	genetic disorder	X-linked reticulate pigmentary disorder with systemic manifestations
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	2046460	\N	\N	EFO	4	EFO	eye disease	X-linked reticulate pigmentary disorder with systemic manifestations
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	3196525	\N	\N	EFO	5	EFO	disease	X-linked reticulate pigmentary disorder with systemic manifestations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	5060292	\N	\N	EFO	7	EFO	material property	X-linked reticulate pigmentary disorder with systemic manifestations
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	3196527	\N	\N	EFO	5	EFO	disease	X-linked reticulate pigmentary disorder with systemic manifestations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85453	"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." []	5877781	\N	\N	EFO	8	EFO	experimental factor	X-linked reticulate pigmentary disorder with systemic manifestations
Orphanet:85458	\N	\N	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	78233	\N	\N	EFO	0	EFO	Hereditary cerebral hemorrhage with amyloidosis	Hereditary cerebral hemorrhage with amyloidosis
Orphanet:183503	Orphanet:85458	\N	"" []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	222843	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Hereditary cerebral hemorrhage with amyloidosis
Orphanet:371439	Orphanet:85458	\N	"" []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	222844	\N	\N	EFO	1	EFO	Genetic cerebrovascular dementia	Hereditary cerebral hemorrhage with amyloidosis
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	579166	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis
EFO:0003763	Orphanet:371439	\N	"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	579167	\N	\N	EFO	2	EFO	cerebrovascular disorder	Hereditary cerebral hemorrhage with amyloidosis
Orphanet:158124	Orphanet:371439	\N	"" []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	579168	\N	\N	EFO	2	EFO	Genetic dementia	Hereditary cerebral hemorrhage with amyloidosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	2046464	\N	\N	EFO	4	EFO	genetic disorder	Hereditary cerebral hemorrhage with amyloidosis
EFO:0004264	EFO:0003763	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	1162810	\N	\N	EFO	3	EFO	vascular disease	Hereditary cerebral hemorrhage with amyloidosis
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	1162811	\N	\N	EFO	3	EFO	brain disease	Hereditary cerebral hemorrhage with amyloidosis
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	1162812	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hereditary cerebral hemorrhage with amyloidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	3000462	\N	\N	EFO	5	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	2046462	\N	\N	EFO	4	EFO	cardiovascular disease	Hereditary cerebral hemorrhage with amyloidosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	2046463	\N	\N	EFO	4	EFO	nervous system disease	Hereditary cerebral hemorrhage with amyloidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	4134407	\N	\N	EFO	6	EFO	disposition	Hereditary cerebral hemorrhage with amyloidosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	3196529	\N	\N	EFO	5	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	3196530	\N	\N	EFO	5	EFO	disease	Hereditary cerebral hemorrhage with amyloidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	5183463	\N	\N	EFO	7	EFO	material property	Hereditary cerebral hemorrhage with amyloidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:85458	"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." []	5998793	\N	\N	EFO	8	EFO	experimental factor	Hereditary cerebral hemorrhage with amyloidosis
Orphanet:857	\N	\N	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	78234	\N	\N	EFO	0	EFO	Townes-Brocks syndrome	Townes-Brocks syndrome
Orphanet:117573	Orphanet:857	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	222845	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Townes-Brocks syndrome
Orphanet:156202	Orphanet:857	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	222846	\N	\N	EFO	1	EFO	Otomandibular dysplasia associated with monogenic syndromes	Townes-Brocks syndrome
Orphanet:183576	Orphanet:857	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	222847	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Townes-Brocks syndrome
Orphanet:294959	Orphanet:857	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	222848	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Townes-Brocks syndrome
Orphanet:330206	Orphanet:857	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	222849	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Townes-Brocks syndrome
Orphanet:90642	Orphanet:857	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	222850	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Townes-Brocks syndrome
Orphanet:93547	Orphanet:857	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	222851	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Townes-Brocks syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	579169	\N	\N	EFO	2	EFO	Anorectal malformation	Townes-Brocks syndrome
Orphanet:155896	Orphanet:156202	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	579170	\N	\N	EFO	2	EFO	Otomandibular dysplasia	Townes-Brocks syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	579171	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Townes-Brocks syndrome
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	579172	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Townes-Brocks syndrome
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	579173	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Townes-Brocks syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	579174	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Townes-Brocks syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	579175	\N	\N	EFO	2	EFO	Rare genetic deafness	Townes-Brocks syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	579176	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Townes-Brocks syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	1162813	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Townes-Brocks syndrome
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	1162814	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Townes-Brocks syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	4402165	\N	\N	EFO	6	EFO	genetic disorder	Townes-Brocks syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	1162816	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Townes-Brocks syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	1162817	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Townes-Brocks syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	1162818	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Townes-Brocks syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	1162819	\N	\N	EFO	3	EFO	genetic disorder	Townes-Brocks syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	1162820	\N	\N	EFO	3	EFO	auditory system disease	Townes-Brocks syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	1162821	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Townes-Brocks syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	1162822	\N	\N	EFO	3	EFO	Rare genetic renal disease	Townes-Brocks syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	2046465	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Townes-Brocks syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	2046466	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Townes-Brocks syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	5028487	\N	\N	EFO	7	EFO	disease	Townes-Brocks syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	2046468	\N	\N	EFO	4	EFO	Rare genetic bone disease	Townes-Brocks syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	2046469	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Townes-Brocks syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	2046470	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Townes-Brocks syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	2046472	\N	\N	EFO	4	EFO	sensory system disease	Townes-Brocks syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	2046473	\N	\N	EFO	4	EFO	genetic disorder	Townes-Brocks syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	3196532	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Townes-Brocks syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	5817873	\N	\N	EFO	8	EFO	disposition	Townes-Brocks syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	3196534	\N	\N	EFO	5	EFO	genetic disorder	Townes-Brocks syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	3196535	\N	\N	EFO	5	EFO	bone disease	Townes-Brocks syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	3196536	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Townes-Brocks syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	3196537	\N	\N	EFO	5	EFO	nervous system disease	Townes-Brocks syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	6410374	\N	\N	EFO	9	EFO	material property	Townes-Brocks syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	4402167	\N	\N	EFO	6	EFO	skeletal system disease	Townes-Brocks syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	4402168	\N	\N	EFO	6	EFO	disease	Townes-Brocks syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	6808183	\N	\N	EFO	10	EFO	experimental factor	Townes-Brocks syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:857	"Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." []	5418252	\N	\N	EFO	7	EFO	disease	Townes-Brocks syndrome
Orphanet:859	\N	\N	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	78235	\N	\N	EFO	0	EFO	Transcobalamin deficiency	Transcobalamin deficiency
Orphanet:79171	Orphanet:859	\N	"" []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	222852	\N	\N	EFO	1	EFO	Disorder of cobalamin metabolism and transport	Transcobalamin deficiency
Orphanet:98396	Orphanet:859	\N	"" []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	222853	\N	\N	EFO	1	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Transcobalamin deficiency
EFO:0005596	Orphanet:79171	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	579177	\N	\N	EFO	2	EFO	vitamin metabolic disorder	Transcobalamin deficiency
Orphanet:309827	Orphanet:79171	\N	"" []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	579178	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Transcobalamin deficiency
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	579179	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Transcobalamin deficiency
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	1162823	\N	\N	EFO	3	EFO	metabolic disease	Transcobalamin deficiency
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	1162824	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Transcobalamin deficiency
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	1162825	\N	\N	EFO	3	EFO	Rare constitutional anemia	Transcobalamin deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	4402171	\N	\N	EFO	6	EFO	disease	Transcobalamin deficiency
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	2046475	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Transcobalamin deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	2046476	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Transcobalamin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	5060294	\N	\N	EFO	7	EFO	disposition	Transcobalamin deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	3196539	\N	\N	EFO	5	EFO	genetic disorder	Transcobalamin deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	3196540	\N	\N	EFO	5	EFO	metabolic disease	Transcobalamin deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	3196541	\N	\N	EFO	5	EFO	genetic disorder	Transcobalamin deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	3196542	\N	\N	EFO	5	EFO	hematological system disease	Transcobalamin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	5877783	\N	\N	EFO	8	EFO	material property	Transcobalamin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	4402170	\N	\N	EFO	6	EFO	disease	Transcobalamin deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	4402172	\N	\N	EFO	6	EFO	disease	Transcobalamin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:859	"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." []	6471004	\N	\N	EFO	9	EFO	experimental factor	Transcobalamin deficiency
Orphanet:86	\N	\N	"" []	Orphanet:86	"" []	78236	\N	\N	EFO	0	EFO	Familial abdominal aortic aneurysm	Familial abdominal aortic aneurysm
Orphanet:233655	Orphanet:86	\N	"" []	Orphanet:86	"" []	222854	\N	\N	EFO	1	EFO	Rare genetic vascular disease	Familial abdominal aortic aneurysm
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86	"" []	579180	\N	\N	EFO	2	EFO	genetic disorder	Familial abdominal aortic aneurysm
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:86	"" []	579181	\N	\N	EFO	2	EFO	vascular disease	Familial abdominal aortic aneurysm
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86	"" []	1162826	\N	\N	EFO	3	EFO	disease	Familial abdominal aortic aneurysm
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:86	"" []	1162827	\N	\N	EFO	3	EFO	cardiovascular disease	Familial abdominal aortic aneurysm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86	"" []	3196544	\N	\N	EFO	5	EFO	disposition	Familial abdominal aortic aneurysm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86	"" []	2046478	\N	\N	EFO	4	EFO	disease	Familial abdominal aortic aneurysm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86	"" []	4134409	\N	\N	EFO	6	EFO	material property	Familial abdominal aortic aneurysm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86	"" []	5183465	\N	\N	EFO	7	EFO	experimental factor	Familial abdominal aortic aneurysm
Orphanet:860	\N	\N	"" []	Orphanet:860	"" []	78237	\N	\N	EFO	0	EFO	Congenitally uncorrected transposition of the great arteries	Congenitally uncorrected transposition of the great arteries
Orphanet:271853	Orphanet:860	\N	"" []	Orphanet:860	"" []	222855	\N	\N	EFO	1	EFO	Genetic cardiac anomaly	Congenitally uncorrected transposition of the great arteries
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:860	"" []	579182	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Congenitally uncorrected transposition of the great arteries
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:860	"" []	1162828	\N	\N	EFO	3	EFO	genetic disorder	Congenitally uncorrected transposition of the great arteries
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:860	"" []	2046479	\N	\N	EFO	4	EFO	disease	Congenitally uncorrected transposition of the great arteries
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:860	"" []	3196545	\N	\N	EFO	5	EFO	disposition	Congenitally uncorrected transposition of the great arteries
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:860	"" []	4402174	\N	\N	EFO	6	EFO	material property	Congenitally uncorrected transposition of the great arteries
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:860	"" []	5418254	\N	\N	EFO	7	EFO	experimental factor	Congenitally uncorrected transposition of the great arteries
Orphanet:861	\N	\N	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	78238	\N	\N	EFO	0	EFO	Treacher-Collins syndrome	Treacher-Collins syndrome
Orphanet:108987	Orphanet:861	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	222856	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Treacher-Collins syndrome
Orphanet:138050	Orphanet:861	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	222857	\N	\N	EFO	1	EFO	Pierre Robin syndrome associated with branchial archs anomalies	Treacher-Collins syndrome
Orphanet:155899	Orphanet:861	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	222858	\N	\N	EFO	1	EFO	Mandibulofacial dysostosis	Treacher-Collins syndrome
Orphanet:183576	Orphanet:861	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	222859	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Treacher-Collins syndrome
Orphanet:330206	Orphanet:861	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	222860	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Treacher-Collins syndrome
Orphanet:90642	Orphanet:861	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	222861	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Treacher-Collins syndrome
Orphanet:93453	Orphanet:861	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	222862	\N	\N	EFO	1	EFO	Dysostosis with predominant craniofacial involvement	Treacher-Collins syndrome
Orphanet:98566	Orphanet:861	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	222863	\N	\N	EFO	1	EFO	Syndromic palpebral coloboma	Treacher-Collins syndrome
Orphanet:98576	Orphanet:861	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	222864	\N	\N	EFO	1	EFO	Malposition of external canthus	Treacher-Collins syndrome
Orphanet:98578	Orphanet:861	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	222865	\N	\N	EFO	1	EFO	Ptosis	Treacher-Collins syndrome
Orphanet:98600	Orphanet:861	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	222866	\N	\N	EFO	1	EFO	Eyebrow/eyelashes distichiasis	Treacher-Collins syndrome
Orphanet:98683	Orphanet:861	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	222867	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Treacher-Collins syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	579183	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Treacher-Collins syndrome
Orphanet:363294	Orphanet:138050	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	579184	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Treacher-Collins syndrome
Orphanet:155896	Orphanet:155899	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	579185	\N	\N	EFO	2	EFO	Otomandibular dysplasia	Treacher-Collins syndrome
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	579186	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Treacher-Collins syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	579187	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Treacher-Collins syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	579188	\N	\N	EFO	2	EFO	Rare genetic deafness	Treacher-Collins syndrome
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	579189	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Treacher-Collins syndrome
Orphanet:98564	Orphanet:98566	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	579190	\N	\N	EFO	2	EFO	Eyelid border anomaly	Treacher-Collins syndrome
Orphanet:98572	Orphanet:98576	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	579191	\N	\N	EFO	2	EFO	Canthal anomaly	Treacher-Collins syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	579192	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Treacher-Collins syndrome
Orphanet:98594	Orphanet:98600	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	579193	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Treacher-Collins syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	579194	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Treacher-Collins syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162829	\N	\N	EFO	3	EFO	Rare genetic eye disease	Treacher-Collins syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162830	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Treacher-Collins syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162831	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Treacher-Collins syndrome
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162832	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Treacher-Collins syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	5183466	\N	\N	EFO	7	EFO	genetic disorder	Treacher-Collins syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162834	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Treacher-Collins syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162835	\N	\N	EFO	3	EFO	genetic disorder	Treacher-Collins syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162836	\N	\N	EFO	3	EFO	auditory system disease	Treacher-Collins syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162837	\N	\N	EFO	3	EFO	Rare genetic bone disease	Treacher-Collins syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162838	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Treacher-Collins syndrome
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162839	\N	\N	EFO	3	EFO	Eyelid malformation	Treacher-Collins syndrome
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162840	\N	\N	EFO	3	EFO	Rare palpebral disease	Treacher-Collins syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162841	\N	\N	EFO	3	EFO	Rare palpebral disease	Treacher-Collins syndrome
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162842	\N	\N	EFO	3	EFO	Rare palpebral disease	Treacher-Collins syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	1162843	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Treacher-Collins syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	5183468	\N	\N	EFO	7	EFO	genetic disorder	Treacher-Collins syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	5183469	\N	\N	EFO	7	EFO	eye disease	Treacher-Collins syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	2046483	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Treacher-Collins syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	3196547	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Treacher-Collins syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	5801894	\N	\N	EFO	8	EFO	disease	Treacher-Collins syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	2046486	\N	\N	EFO	4	EFO	sensory system disease	Treacher-Collins syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	2046487	\N	\N	EFO	4	EFO	genetic disorder	Treacher-Collins syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	2046488	\N	\N	EFO	4	EFO	bone disease	Treacher-Collins syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	2046489	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Treacher-Collins syndrome
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	2046490	\N	\N	EFO	4	EFO	Rare palpebral disease	Treacher-Collins syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	3196553	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Treacher-Collins syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	2046492	\N	\N	EFO	4	EFO	Rare genetic eye disease	Treacher-Collins syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	5817874	\N	\N	EFO	8	EFO	disease	Treacher-Collins syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	4134411	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Treacher-Collins syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	6379001	\N	\N	EFO	9	EFO	disposition	Treacher-Collins syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	3196550	\N	\N	EFO	5	EFO	nervous system disease	Treacher-Collins syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	3196551	\N	\N	EFO	5	EFO	skeletal system disease	Treacher-Collins syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	4134413	\N	\N	EFO	6	EFO	Rare genetic eye disease	Treacher-Collins syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	6778837	\N	\N	EFO	10	EFO	material property	Treacher-Collins syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	4402177	\N	\N	EFO	6	EFO	disease	Treacher-Collins syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	4402178	\N	\N	EFO	6	EFO	disease	Treacher-Collins syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:861	"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." []	7030024	\N	\N	EFO	11	EFO	experimental factor	Treacher-Collins syndrome
Orphanet:86309	\N	\N	"" []	Orphanet:86309	"" []	78239	\N	\N	EFO	0	EFO	DPAGT1-CDG	DPAGT1-CDG
Orphanet:309347	Orphanet:86309	\N	"" []	Orphanet:86309	"" []	222868	\N	\N	EFO	1	EFO	Disorder of protein N-glycosylation	DPAGT1-CDG
Orphanet:371064	Orphanet:86309	\N	"" []	Orphanet:86309	"" []	222869	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	DPAGT1-CDG
Orphanet:371071	Orphanet:86309	\N	"" []	Orphanet:86309	"" []	222870	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	DPAGT1-CDG
Orphanet:137	Orphanet:309347	\N	"" []	Orphanet:86309	"" []	579195	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	DPAGT1-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:86309	"" []	579196	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	DPAGT1-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:86309	"" []	579197	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	DPAGT1-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:86309	"" []	579198	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	DPAGT1-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:86309	"" []	1162844	\N	\N	EFO	3	EFO	Inborn errors of metabolism	DPAGT1-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:86309	"" []	1162845	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	DPAGT1-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:86309	"" []	1162846	\N	\N	EFO	3	EFO	Neurometabolic disease	DPAGT1-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86309	"" []	2046493	\N	\N	EFO	4	EFO	genetic disorder	DPAGT1-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:86309	"" []	2046494	\N	\N	EFO	4	EFO	metabolic disease	DPAGT1-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:86309	"" []	2046495	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	DPAGT1-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:86309	"" []	2046496	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	DPAGT1-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86309	"" []	5183471	\N	\N	EFO	7	EFO	disease	DPAGT1-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86309	"" []	3196558	\N	\N	EFO	5	EFO	disease	DPAGT1-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:86309	"" []	3196559	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	DPAGT1-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86309	"" []	4402182	\N	\N	EFO	6	EFO	genetic disorder	DPAGT1-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86309	"" []	5877785	\N	\N	EFO	8	EFO	disposition	DPAGT1-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86309	"" []	6471006	\N	\N	EFO	9	EFO	material property	DPAGT1-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86309	"" []	6848835	\N	\N	EFO	10	EFO	experimental factor	DPAGT1-CDG
Orphanet:867	\N	\N	"" []	Orphanet:867	"" []	78240	\N	\N	EFO	0	EFO	Familial multiple trichoepithelioma	Familial multiple trichoepithelioma
Orphanet:79493	Orphanet:867	\N	"" []	Orphanet:867	"" []	222871	\N	\N	EFO	1	EFO	Brooke-Spiegler syndrome	Familial multiple trichoepithelioma
Orphanet:183487	Orphanet:79493	\N	"" []	Orphanet:867	"" []	579199	\N	\N	EFO	2	EFO	Genetic skin tumor	Familial multiple trichoepithelioma
Orphanet:98590	Orphanet:79493	\N	"" []	Orphanet:867	"" []	579200	\N	\N	EFO	2	EFO	Palpebral piliary tumor	Familial multiple trichoepithelioma
EFO:0004198	Orphanet:183487	\N	"Tumors or cancer of the SKIN." []	Orphanet:867	"" []	1162847	\N	\N	EFO	3	EFO	skin neoplasm	Familial multiple trichoepithelioma
Orphanet:68336	Orphanet:183487	\N	"" []	Orphanet:867	"" []	1162848	\N	\N	EFO	3	EFO	Rare genetic tumor	Familial multiple trichoepithelioma
Orphanet:98580	Orphanet:98590	\N	"" []	Orphanet:867	"" []	1162849	\N	\N	EFO	3	EFO	Palpebral tumor	Familial multiple trichoepithelioma
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:867	"" []	2046497	\N	\N	EFO	4	EFO	neoplasm	Familial multiple trichoepithelioma
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:867	"" []	2046498	\N	\N	EFO	4	EFO	skin disease	Familial multiple trichoepithelioma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:867	"" []	2046499	\N	\N	EFO	4	EFO	genetic disorder	Familial multiple trichoepithelioma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:867	"" []	2046500	\N	\N	EFO	4	EFO	neoplasm	Familial multiple trichoepithelioma
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:867	"" []	2046501	\N	\N	EFO	4	EFO	Rare palpebral disease	Familial multiple trichoepithelioma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:867	"" []	3196561	\N	\N	EFO	5	EFO	disease	Familial multiple trichoepithelioma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:867	"" []	3196562	\N	\N	EFO	5	EFO	disease	Familial multiple trichoepithelioma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:867	"" []	6152911	\N	\N	EFO	8	EFO	disease	Familial multiple trichoepithelioma
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:867	"" []	3196564	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Familial multiple trichoepithelioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:867	"" []	6410376	\N	\N	EFO	9	EFO	disposition	Familial multiple trichoepithelioma
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:867	"" []	4402185	\N	\N	EFO	6	EFO	Rare genetic eye disease	Familial multiple trichoepithelioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:867	"" []	6808185	\N	\N	EFO	10	EFO	material property	Familial multiple trichoepithelioma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:867	"" []	5418258	\N	\N	EFO	7	EFO	genetic disorder	Familial multiple trichoepithelioma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:867	"" []	5418259	\N	\N	EFO	7	EFO	eye disease	Familial multiple trichoepithelioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:867	"" []	7048812	\N	\N	EFO	11	EFO	experimental factor	Familial multiple trichoepithelioma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:867	"" []	6152912	\N	\N	EFO	8	EFO	disease	Familial multiple trichoepithelioma
Orphanet:86788	\N	\N	"" []	Orphanet:86788	"" []	78241	\N	\N	EFO	0	EFO	X-linked severe congenital neutropenia	X-linked severe congenital neutropenia
Orphanet:42738	Orphanet:86788	\N	"" []	Orphanet:86788	"" []	222872	\N	\N	EFO	1	EFO	Severe congenital neutropenia	X-linked severe congenital neutropenia
Orphanet:101987	Orphanet:42738	\N	"" []	Orphanet:86788	"" []	579201	\N	\N	EFO	2	EFO	Constitutional neutropenia	X-linked severe congenital neutropenia
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:86788	"" []	1162850	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	X-linked severe congenital neutropenia
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:86788	"" []	2046502	\N	\N	EFO	4	EFO	Primary immunodeficiency	X-linked severe congenital neutropenia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:86788	"" []	3196565	\N	\N	EFO	5	EFO	Rare genetic immune disease	X-linked severe congenital neutropenia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86788	"" []	4402186	\N	\N	EFO	6	EFO	genetic disorder	X-linked severe congenital neutropenia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:86788	"" []	4402187	\N	\N	EFO	6	EFO	immune system disease	X-linked severe congenital neutropenia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86788	"" []	5418260	\N	\N	EFO	7	EFO	disease	X-linked severe congenital neutropenia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86788	"" []	5418261	\N	\N	EFO	7	EFO	disease	X-linked severe congenital neutropenia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86788	"" []	6152913	\N	\N	EFO	8	EFO	disposition	X-linked severe congenital neutropenia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86788	"" []	6634213	\N	\N	EFO	9	EFO	material property	X-linked severe congenital neutropenia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86788	"" []	6926267	\N	\N	EFO	10	EFO	experimental factor	X-linked severe congenital neutropenia
Orphanet:86789	\N	\N	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	78242	\N	\N	EFO	0	EFO	Patella aplasia/hypoplasia	Patella aplasia/hypoplasia
Orphanet:109011	Orphanet:86789	\N	"" []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	222873	\N	\N	EFO	1	EFO	Non-syndromic limb malformation	Patella aplasia/hypoplasia
Orphanet:93455	Orphanet:86789	\N	"" []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	222874	\N	\N	EFO	1	EFO	Patellar dysostosis	Patella aplasia/hypoplasia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	579202	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Patella aplasia/hypoplasia
Orphanet:404568	Orphanet:93455	\N	"" []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	579203	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Patella aplasia/hypoplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	1162851	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Patella aplasia/hypoplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	1162852	\N	\N	EFO	3	EFO	Rare genetic bone disease	Patella aplasia/hypoplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	1162853	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Patella aplasia/hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	3196568	\N	\N	EFO	5	EFO	genetic disorder	Patella aplasia/hypoplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	2046504	\N	\N	EFO	4	EFO	genetic disorder	Patella aplasia/hypoplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	2046505	\N	\N	EFO	4	EFO	bone disease	Patella aplasia/hypoplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	2046506	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Patella aplasia/hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	4134414	\N	\N	EFO	6	EFO	disease	Patella aplasia/hypoplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	3196567	\N	\N	EFO	5	EFO	skeletal system disease	Patella aplasia/hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	5183472	\N	\N	EFO	7	EFO	disposition	Patella aplasia/hypoplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	4402189	\N	\N	EFO	6	EFO	disease	Patella aplasia/hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	5998797	\N	\N	EFO	8	EFO	material property	Patella aplasia/hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86789	"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." []	6551827	\N	\N	EFO	9	EFO	experimental factor	Patella aplasia/hypoplasia
Orphanet:868	\N	\N	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	78243	\N	\N	EFO	0	EFO	Triose phosphate-isomerase deficiency	Triose phosphate-isomerase deficiency
Orphanet:308459	Orphanet:868	\N	"" []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	222875	\N	\N	EFO	1	EFO	Disorder of glycolysis	Triose phosphate-isomerase deficiency
Orphanet:68385	Orphanet:868	\N	"" []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	222876	\N	\N	EFO	1	EFO	Neurometabolic disease	Triose phosphate-isomerase deficiency
Orphanet:98372	Orphanet:868	\N	"" []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	222877	\N	\N	EFO	1	EFO	Hemolytic anemia due to a disorder of glycolytic enzymes	Triose phosphate-isomerase deficiency
Orphanet:79161	Orphanet:308459	\N	"" []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	579204	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Triose phosphate-isomerase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	579205	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Triose phosphate-isomerase deficiency
Orphanet:98369	Orphanet:98372	\N	"" []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	579206	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Triose phosphate-isomerase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	1162854	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Triose phosphate-isomerase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	1162855	\N	\N	EFO	3	EFO	genetic disorder	Triose phosphate-isomerase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	1162856	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Triose phosphate-isomerase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	2046507	\N	\N	EFO	4	EFO	genetic disorder	Triose phosphate-isomerase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	2046508	\N	\N	EFO	4	EFO	metabolic disease	Triose phosphate-isomerase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	5418264	\N	\N	EFO	7	EFO	disease	Triose phosphate-isomerase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	2046510	\N	\N	EFO	4	EFO	Rare constitutional anemia	Triose phosphate-isomerase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	3196570	\N	\N	EFO	5	EFO	disease	Triose phosphate-isomerase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	5817876	\N	\N	EFO	8	EFO	disposition	Triose phosphate-isomerase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	3196572	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Triose phosphate-isomerase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	6410377	\N	\N	EFO	9	EFO	material property	Triose phosphate-isomerase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	4402191	\N	\N	EFO	6	EFO	genetic disorder	Triose phosphate-isomerase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	4402192	\N	\N	EFO	6	EFO	hematological system disease	Triose phosphate-isomerase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	6808186	\N	\N	EFO	10	EFO	experimental factor	Triose phosphate-isomerase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:868	"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." []	5418265	\N	\N	EFO	7	EFO	disease	Triose phosphate-isomerase deficiency
Orphanet:86812	\N	\N	"" []	Orphanet:86812	"" []	78244	\N	\N	EFO	0	EFO	Autosomal recessive limb-girdle muscular dystrophy type 2K	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:102015	Orphanet:86812	\N	"" []	Orphanet:86812	"" []	222878	\N	\N	EFO	1	EFO	Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:209030	Orphanet:86812	\N	"" []	Orphanet:86812	"" []	222879	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein O-mannosyltransferase 1	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:309469	Orphanet:86812	\N	"" []	Orphanet:86812	"" []	222880	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:371064	Orphanet:86812	\N	"" []	Orphanet:86812	"" []	222881	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:263	Orphanet:102015	\N	"Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." []	Orphanet:86812	"" []	579207	\N	\N	EFO	2	EFO	Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:207113	Orphanet:209030	\N	"" []	Orphanet:86812	"" []	579208	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:86812	"" []	579209	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:86812	"" []	579210	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:86812	"" []	579211	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:206644	Orphanet:263	\N	"" []	Orphanet:86812	"" []	1162857	\N	\N	EFO	3	EFO	Progressive muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:86812	"" []	1162858	\N	\N	EFO	3	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:86812	"" []	1162859	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:86812	"" []	1162860	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:86812	"" []	1162861	\N	\N	EFO	3	EFO	Neurometabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:86812	"" []	2046511	\N	\N	EFO	4	EFO	Muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:86812	"" []	2046512	\N	\N	EFO	4	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:86812	"" []	2046513	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:86812	"" []	2046514	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:86812	"" []	2046515	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:86812	"" []	3196573	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:86812	"" []	3196574	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2K
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86812	"" []	3196575	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2K
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:86812	"" []	3196576	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:86812	"" []	3196577	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2K
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86812	"" []	5998800	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:86812	"" []	4402193	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2K
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:86812	"" []	5418266	\N	\N	EFO	7	EFO	muscular disease	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:86812	"" []	5418267	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive limb-girdle muscular dystrophy type 2K
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86812	"" []	6410378	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2K
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86812	"" []	4402197	\N	\N	EFO	6	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2K
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:86812	"" []	5998799	\N	\N	EFO	8	EFO	skeletal system disease	Autosomal recessive limb-girdle muscular dystrophy type 2K
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86812	"" []	6808187	\N	\N	EFO	10	EFO	disposition	Autosomal recessive limb-girdle muscular dystrophy type 2K
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86812	"" []	6551828	\N	\N	EFO	9	EFO	disease	Autosomal recessive limb-girdle muscular dystrophy type 2K
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86812	"" []	7048813	\N	\N	EFO	11	EFO	material property	Autosomal recessive limb-girdle muscular dystrophy type 2K
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86812	"" []	7190257	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive limb-girdle muscular dystrophy type 2K
Orphanet:86813	\N	\N	"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." []	Orphanet:86813	"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." []	78245	\N	\N	EFO	0	EFO	Helicoid peripapillary chorioretinal degeneration	Helicoid peripapillary chorioretinal degeneration
Orphanet:71862	Orphanet:86813	\N	"" []	Orphanet:86813	"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." []	222882	\N	\N	EFO	1	EFO	Retinal dystrophy	Helicoid peripapillary chorioretinal degeneration
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:86813	"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." []	579212	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Helicoid peripapillary chorioretinal degeneration
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:86813	"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." []	1162862	\N	\N	EFO	3	EFO	Rare genetic eye disease	Helicoid peripapillary chorioretinal degeneration
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86813	"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." []	2046516	\N	\N	EFO	4	EFO	genetic disorder	Helicoid peripapillary chorioretinal degeneration
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:86813	"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." []	2046517	\N	\N	EFO	4	EFO	eye disease	Helicoid peripapillary chorioretinal degeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86813	"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." []	3196579	\N	\N	EFO	5	EFO	disease	Helicoid peripapillary chorioretinal degeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86813	"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." []	3196580	\N	\N	EFO	5	EFO	disease	Helicoid peripapillary chorioretinal degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86813	"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." []	4402199	\N	\N	EFO	6	EFO	disposition	Helicoid peripapillary chorioretinal degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86813	"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." []	5418271	\N	\N	EFO	7	EFO	material property	Helicoid peripapillary chorioretinal degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86813	"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." []	6152917	\N	\N	EFO	8	EFO	experimental factor	Helicoid peripapillary chorioretinal degeneration
Orphanet:86814	\N	\N	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	78246	\N	\N	EFO	0	EFO	Benign adult familial myoclonic epilepsy	Benign adult familial myoclonic epilepsy
Orphanet:306750	Orphanet:86814	\N	"" []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	222883	\N	\N	EFO	1	EFO	Primary myoclonus	Benign adult familial myoclonic epilepsy
Orphanet:98260	Orphanet:86814	\N	"" []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	222884	\N	\N	EFO	1	EFO	Adolescent-onset epilepsy syndrome	Benign adult familial myoclonic epilepsy
Orphanet:307064	Orphanet:306750	\N	"" []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	579213	\N	\N	EFO	2	EFO	Rare genetic myoclonus	Benign adult familial myoclonic epilepsy
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	579214	\N	\N	EFO	2	EFO	Epilepsy syndrome	Benign adult familial myoclonic epilepsy
Orphanet:183521	Orphanet:307064	\N	"" []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	1162863	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Benign adult familial myoclonic epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	1162864	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Benign adult familial myoclonic epilepsy
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	2046518	\N	\N	EFO	4	EFO	movement disorder	Benign adult familial myoclonic epilepsy
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	2046519	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Benign adult familial myoclonic epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	2046520	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Benign adult familial myoclonic epilepsy
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	3196581	\N	\N	EFO	5	EFO	nervous system disease	Benign adult familial myoclonic epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	3196582	\N	\N	EFO	5	EFO	genetic disorder	Benign adult familial myoclonic epilepsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	4402200	\N	\N	EFO	6	EFO	disease	Benign adult familial myoclonic epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	4402201	\N	\N	EFO	6	EFO	disease	Benign adult familial myoclonic epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	5418272	\N	\N	EFO	7	EFO	disposition	Benign adult familial myoclonic epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	6152918	\N	\N	EFO	8	EFO	material property	Benign adult familial myoclonic epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86814	"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." []	6634215	\N	\N	EFO	9	EFO	experimental factor	Benign adult familial myoclonic epilepsy
Orphanet:86815	\N	\N	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	Orphanet:86815	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	78247	\N	\N	EFO	0	EFO	Aplasia of lacrimal and salivary glands	Aplasia of lacrimal and salivary glands
Orphanet:98605	Orphanet:86815	\N	"" []	Orphanet:86815	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	222885	\N	\N	EFO	1	EFO	Excretory apparatus of the lacrimal system anomaly	Aplasia of lacrimal and salivary glands
Orphanet:98602	Orphanet:98605	\N	"" []	Orphanet:86815	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	579215	\N	\N	EFO	2	EFO	Rare lacrimal system disease	Aplasia of lacrimal and salivary glands
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:86815	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	1162865	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Aplasia of lacrimal and salivary glands
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:86815	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	2046521	\N	\N	EFO	4	EFO	Rare genetic eye disease	Aplasia of lacrimal and salivary glands
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86815	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	3196583	\N	\N	EFO	5	EFO	genetic disorder	Aplasia of lacrimal and salivary glands
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:86815	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	3196584	\N	\N	EFO	5	EFO	eye disease	Aplasia of lacrimal and salivary glands
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86815	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	4402202	\N	\N	EFO	6	EFO	disease	Aplasia of lacrimal and salivary glands
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86815	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	4402203	\N	\N	EFO	6	EFO	disease	Aplasia of lacrimal and salivary glands
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86815	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	5418273	\N	\N	EFO	7	EFO	disposition	Aplasia of lacrimal and salivary glands
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86815	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	6152919	\N	\N	EFO	8	EFO	material property	Aplasia of lacrimal and salivary glands
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86815	"Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." []	6634216	\N	\N	EFO	9	EFO	experimental factor	Aplasia of lacrimal and salivary glands
Orphanet:86816	\N	\N	"" []	Orphanet:86816	"" []	78248	\N	\N	EFO	0	EFO	Congenital analbuminemia	Congenital analbuminemia
Orphanet:158300	Orphanet:86816	\N	"" []	Orphanet:86816	"" []	222886	\N	\N	EFO	1	EFO	Rare genetic hematologic disease	Congenital analbuminemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86816	"" []	579216	\N	\N	EFO	2	EFO	genetic disorder	Congenital analbuminemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:86816	"" []	579217	\N	\N	EFO	2	EFO	hematological system disease	Congenital analbuminemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86816	"" []	1162866	\N	\N	EFO	3	EFO	disease	Congenital analbuminemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86816	"" []	1162867	\N	\N	EFO	3	EFO	disease	Congenital analbuminemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86816	"" []	2046522	\N	\N	EFO	4	EFO	disposition	Congenital analbuminemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86816	"" []	3196585	\N	\N	EFO	5	EFO	material property	Congenital analbuminemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86816	"" []	4402204	\N	\N	EFO	6	EFO	experimental factor	Congenital analbuminemia
Orphanet:86817	\N	\N	"" []	Orphanet:86817	"" []	78249	\N	\N	EFO	0	EFO	Hemolytic anemia due to adenylate kinase deficiency	Hemolytic anemia due to adenylate kinase deficiency
Orphanet:98374	Orphanet:86817	\N	"" []	Orphanet:86817	"" []	222887	\N	\N	EFO	1	EFO	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder	Hemolytic anemia due to adenylate kinase deficiency
Orphanet:98369	Orphanet:98374	\N	"" []	Orphanet:86817	"" []	579218	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Hemolytic anemia due to adenylate kinase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:86817	"" []	1162868	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Hemolytic anemia due to adenylate kinase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:86817	"" []	2046523	\N	\N	EFO	4	EFO	Rare constitutional anemia	Hemolytic anemia due to adenylate kinase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:86817	"" []	3196586	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Hemolytic anemia due to adenylate kinase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86817	"" []	4402205	\N	\N	EFO	6	EFO	genetic disorder	Hemolytic anemia due to adenylate kinase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:86817	"" []	4402206	\N	\N	EFO	6	EFO	hematological system disease	Hemolytic anemia due to adenylate kinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86817	"" []	5418274	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to adenylate kinase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86817	"" []	5418275	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to adenylate kinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86817	"" []	6152920	\N	\N	EFO	8	EFO	disposition	Hemolytic anemia due to adenylate kinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86817	"" []	6634217	\N	\N	EFO	9	EFO	material property	Hemolytic anemia due to adenylate kinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86817	"" []	6926268	\N	\N	EFO	10	EFO	experimental factor	Hemolytic anemia due to adenylate kinase deficiency
Orphanet:86818	\N	\N	"" []	Orphanet:86818	"" []	78250	\N	\N	EFO	0	EFO	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:102283	Orphanet:86818	\N	"" []	Orphanet:86818	"" []	222888	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:182043	Orphanet:86818	\N	"" []	Orphanet:86818	"" []	222889	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:263756	Orphanet:86818	\N	"" []	Orphanet:86818	"" []	222890	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome X	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:98464	Orphanet:86818	\N	"" []	Orphanet:86818	"" []	222891	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:86818	"" []	579219	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:86818	"" []	579220	\N	\N	EFO	2	EFO	Rare constitutional anemia	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:263726	Orphanet:263756	\N	"" []	Orphanet:86818	"" []	579221	\N	\N	EFO	2	EFO	Partial deletion of chromosome X	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:86818	"" []	579222	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:86818	"" []	1162869	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:86818	"" []	1162870	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:98159	Orphanet:263726	\N	"" []	Orphanet:86818	"" []	1162871	\N	\N	EFO	3	EFO	Chromosome X structural anomaly	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:86818	"" []	1162872	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86818	"" []	2046524	\N	\N	EFO	4	EFO	genetic disorder	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86818	"" []	2046525	\N	\N	EFO	4	EFO	genetic disorder	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:86818	"" []	2046526	\N	\N	EFO	4	EFO	hematological system disease	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:86818	"" []	2046527	\N	\N	EFO	4	EFO	Gonosome structural anomaly	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:86818	"" []	2046528	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86818	"" []	6152922	\N	\N	EFO	8	EFO	disease	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86818	"" []	3196588	\N	\N	EFO	5	EFO	disease	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:86818	"" []	3196589	\N	\N	EFO	5	EFO	Gonosome anomaly	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86818	"" []	3196590	\N	\N	EFO	5	EFO	genetic disorder	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86818	"" []	6410379	\N	\N	EFO	9	EFO	disposition	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:86818	"" []	4402208	\N	\N	EFO	6	EFO	Chromosomal anomaly	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86818	"" []	6808188	\N	\N	EFO	10	EFO	material property	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86818	"" []	5418277	\N	\N	EFO	7	EFO	genetic disorder	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86818	"" []	7048814	\N	\N	EFO	11	EFO	experimental factor	Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Orphanet:86819	\N	\N	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	Orphanet:86819	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	78251	\N	\N	EFO	0	EFO	Atrichia with papular lesions	Atrichia with papular lesions
Orphanet:79364	Orphanet:86819	\N	"" []	Orphanet:86819	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	222892	\N	\N	EFO	1	EFO	Alopecia	Atrichia with papular lesions
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:86819	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	579223	\N	\N	EFO	2	EFO	Genetic hair anomaly	Atrichia with papular lesions
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:86819	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	1162873	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Atrichia with papular lesions
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:86819	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	2046529	\N	\N	EFO	4	EFO	Rare genetic skin disease	Atrichia with papular lesions
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86819	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	3196591	\N	\N	EFO	5	EFO	genetic disorder	Atrichia with papular lesions
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:86819	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	3196592	\N	\N	EFO	5	EFO	skin disease	Atrichia with papular lesions
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86819	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	4402210	\N	\N	EFO	6	EFO	disease	Atrichia with papular lesions
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86819	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	4402211	\N	\N	EFO	6	EFO	disease	Atrichia with papular lesions
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86819	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	5418278	\N	\N	EFO	7	EFO	disposition	Atrichia with papular lesions
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86819	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	6152923	\N	\N	EFO	8	EFO	material property	Atrichia with papular lesions
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86819	"Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." []	6634218	\N	\N	EFO	9	EFO	experimental factor	Atrichia with papular lesions
Orphanet:86820	\N	\N	"" []	Orphanet:86820	"" []	78252	\N	\N	EFO	0	EFO	Familial avascular necrosis of femoral head	Familial avascular necrosis of femoral head
Orphanet:399388	Orphanet:86820	\N	"" []	Orphanet:86820	"" []	222893	\N	\N	EFO	1	EFO	Avascular necrosis of genetic origin	Familial avascular necrosis of femoral head
Orphanet:93421	Orphanet:86820	\N	"" []	Orphanet:86820	"" []	222894	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Familial avascular necrosis of femoral head
Orphanet:399380	Orphanet:399388	\N	"" []	Orphanet:86820	"" []	579224	\N	\N	EFO	2	EFO	Osteonecrosis of genetic origin	Familial avascular necrosis of femoral head
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:86820	"" []	579225	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Familial avascular necrosis of femoral head
Orphanet:183524	Orphanet:399380	\N	"" []	Orphanet:86820	"" []	1162874	\N	\N	EFO	3	EFO	Rare genetic bone disease	Familial avascular necrosis of femoral head
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:86820	"" []	1162875	\N	\N	EFO	3	EFO	Rare genetic bone disease	Familial avascular necrosis of femoral head
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86820	"" []	2046530	\N	\N	EFO	4	EFO	genetic disorder	Familial avascular necrosis of femoral head
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:86820	"" []	2046531	\N	\N	EFO	4	EFO	bone disease	Familial avascular necrosis of femoral head
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86820	"" []	3196593	\N	\N	EFO	5	EFO	disease	Familial avascular necrosis of femoral head
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:86820	"" []	3196594	\N	\N	EFO	5	EFO	skeletal system disease	Familial avascular necrosis of femoral head
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86820	"" []	5418280	\N	\N	EFO	7	EFO	disposition	Familial avascular necrosis of femoral head
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86820	"" []	4402213	\N	\N	EFO	6	EFO	disease	Familial avascular necrosis of femoral head
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86820	"" []	5998803	\N	\N	EFO	8	EFO	material property	Familial avascular necrosis of femoral head
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86820	"" []	6551831	\N	\N	EFO	9	EFO	experimental factor	Familial avascular necrosis of femoral head
Orphanet:86821	\N	\N	"" []	Orphanet:86821	"" []	78253	\N	\N	EFO	0	EFO	Lissencephaly type 3 - familial fetal akinesia sequence	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:102011	Orphanet:86821	\N	"" []	Orphanet:86821	"" []	222895	\N	\N	EFO	1	EFO	Lissencephaly type 3	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:48471	Orphanet:102011	\N	"" []	Orphanet:86821	"" []	579226	\N	\N	EFO	2	EFO	Lissencephaly	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:86821	"" []	1162876	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:86821	"" []	1162877	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:86821	"" []	1162878	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:86821	"" []	2046532	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:86821	"" []	2046533	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:86821	"" []	2046534	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:86821	"" []	3196595	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:86821	"" []	3196596	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:86821	"" []	3196597	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:86821	"" []	3196598	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly type 3 - familial fetal akinesia sequence
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86821	"" []	4402214	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly type 3 - familial fetal akinesia sequence
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86821	"" []	4402215	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly type 3 - familial fetal akinesia sequence
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86821	"" []	5418281	\N	\N	EFO	7	EFO	disease	Lissencephaly type 3 - familial fetal akinesia sequence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86821	"" []	6152925	\N	\N	EFO	8	EFO	disposition	Lissencephaly type 3 - familial fetal akinesia sequence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86821	"" []	6634219	\N	\N	EFO	9	EFO	material property	Lissencephaly type 3 - familial fetal akinesia sequence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86821	"" []	6926269	\N	\N	EFO	10	EFO	experimental factor	Lissencephaly type 3 - familial fetal akinesia sequence
Orphanet:86822	\N	\N	"" []	Orphanet:86822	"" []	78254	\N	\N	EFO	0	EFO	Lissencephaly type 3 - metacarpal bone dysplasia	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:102011	Orphanet:86822	\N	"" []	Orphanet:86822	"" []	222896	\N	\N	EFO	1	EFO	Lissencephaly type 3	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:48471	Orphanet:102011	\N	"" []	Orphanet:86822	"" []	579227	\N	\N	EFO	2	EFO	Lissencephaly	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:86822	"" []	1162879	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:86822	"" []	1162880	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:86822	"" []	1162881	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:86822	"" []	2046535	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:86822	"" []	2046536	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:86822	"" []	2046537	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:86822	"" []	3196599	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:86822	"" []	3196600	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:86822	"" []	3196601	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:86822	"" []	3196602	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly type 3 - metacarpal bone dysplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86822	"" []	4402216	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly type 3 - metacarpal bone dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86822	"" []	4402217	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly type 3 - metacarpal bone dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86822	"" []	5418282	\N	\N	EFO	7	EFO	disease	Lissencephaly type 3 - metacarpal bone dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86822	"" []	6152926	\N	\N	EFO	8	EFO	disposition	Lissencephaly type 3 - metacarpal bone dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86822	"" []	6634220	\N	\N	EFO	9	EFO	material property	Lissencephaly type 3 - metacarpal bone dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86822	"" []	6926270	\N	\N	EFO	10	EFO	experimental factor	Lissencephaly type 3 - metacarpal bone dysplasia
Orphanet:86823	\N	\N	"" []	Orphanet:86823	"" []	78255	\N	\N	EFO	0	EFO	Lissencephaly with cerebellar hypoplasia	Lissencephaly with cerebellar hypoplasia
Orphanet:48471	Orphanet:86823	\N	"" []	Orphanet:86823	"" []	222897	\N	\N	EFO	1	EFO	Lissencephaly	Lissencephaly with cerebellar hypoplasia
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:86823	"" []	579228	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Lissencephaly with cerebellar hypoplasia
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:86823	"" []	579229	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly with cerebellar hypoplasia
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:86823	"" []	579230	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly with cerebellar hypoplasia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:86823	"" []	1162882	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Lissencephaly with cerebellar hypoplasia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:86823	"" []	1162883	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Lissencephaly with cerebellar hypoplasia
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:86823	"" []	1162884	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Lissencephaly with cerebellar hypoplasia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:86823	"" []	2046538	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:86823	"" []	2046539	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:86823	"" []	2046540	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly with cerebellar hypoplasia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:86823	"" []	2046541	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lissencephaly with cerebellar hypoplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86823	"" []	3196603	\N	\N	EFO	5	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86823	"" []	3196604	\N	\N	EFO	5	EFO	genetic disorder	Lissencephaly with cerebellar hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86823	"" []	4402218	\N	\N	EFO	6	EFO	disease	Lissencephaly with cerebellar hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86823	"" []	5418283	\N	\N	EFO	7	EFO	disposition	Lissencephaly with cerebellar hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86823	"" []	6152927	\N	\N	EFO	8	EFO	material property	Lissencephaly with cerebellar hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86823	"" []	6634221	\N	\N	EFO	9	EFO	experimental factor	Lissencephaly with cerebellar hypoplasia
Orphanet:869	\N	\N	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	78256	\N	\N	EFO	0	EFO	Triple A syndrome	Triple A syndrome
Orphanet:101960	Orphanet:869	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	222898	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	Triple A syndrome
Orphanet:207015	Orphanet:869	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	222899	\N	\N	EFO	1	EFO	Rare hereditary disease with peripheral neuropathy	Triple A syndrome
Orphanet:371445	Orphanet:869	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	222900	\N	\N	EFO	1	EFO	Genetic syndromic esophageal malformation	Triple A syndrome
Orphanet:98604	Orphanet:869	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	222901	\N	\N	EFO	1	EFO	Congenital alacrima	Triple A syndrome
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	579231	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Triple A syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	579232	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Triple A syndrome
Orphanet:88993	Orphanet:371445	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	579233	\N	\N	EFO	2	EFO	Esophageal malformation	Triple A syndrome
Orphanet:98603	Orphanet:98604	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	579234	\N	\N	EFO	2	EFO	Secretory apparatus of the lacrimal system anomaly	Triple A syndrome
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	1162885	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Triple A syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	1162886	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Triple A syndrome
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	1162887	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Triple A syndrome
Orphanet:98602	Orphanet:98603	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	1162888	\N	\N	EFO	3	EFO	Rare lacrimal system disease	Triple A syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	2046542	\N	\N	EFO	4	EFO	genetic disorder	Triple A syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	2046543	\N	\N	EFO	4	EFO	endocrine system disease	Triple A syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	2046544	\N	\N	EFO	4	EFO	genetic disorder	Triple A syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	2046545	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Triple A syndrome
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	2046546	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Triple A syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	5418285	\N	\N	EFO	7	EFO	disease	Triple A syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	3196606	\N	\N	EFO	5	EFO	disease	Triple A syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	3196607	\N	\N	EFO	5	EFO	genetic disorder	Triple A syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	3196608	\N	\N	EFO	5	EFO	Rare genetic eye disease	Triple A syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	5877787	\N	\N	EFO	8	EFO	disposition	Triple A syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	4402221	\N	\N	EFO	6	EFO	genetic disorder	Triple A syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	4402222	\N	\N	EFO	6	EFO	eye disease	Triple A syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	6471008	\N	\N	EFO	9	EFO	material property	Triple A syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	5418286	\N	\N	EFO	7	EFO	disease	Triple A syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:869	"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." []	6848837	\N	\N	EFO	10	EFO	experimental factor	Triple A syndrome
Orphanet:86906	\N	\N	"" []	Orphanet:86906	"" []	78257	\N	\N	EFO	0	EFO	Hypothalamic hamartomas with gelastic seizures	Hypothalamic hamartomas with gelastic seizures
Orphanet:166478	Orphanet:86906	\N	"" []	Orphanet:86906	"" []	222902	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Hypothalamic hamartomas with gelastic seizures
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:86906	"" []	579235	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Hypothalamic hamartomas with gelastic seizures
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:86906	"" []	1162889	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hypothalamic hamartomas with gelastic seizures
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86906	"" []	2046547	\N	\N	EFO	4	EFO	genetic disorder	Hypothalamic hamartomas with gelastic seizures
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86906	"" []	3196609	\N	\N	EFO	5	EFO	disease	Hypothalamic hamartomas with gelastic seizures
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86906	"" []	4402223	\N	\N	EFO	6	EFO	disposition	Hypothalamic hamartomas with gelastic seizures
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86906	"" []	5418287	\N	\N	EFO	7	EFO	material property	Hypothalamic hamartomas with gelastic seizures
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86906	"" []	6152929	\N	\N	EFO	8	EFO	experimental factor	Hypothalamic hamartomas with gelastic seizures
Orphanet:86909	\N	\N	"" []	Orphanet:86909	"" []	78258	\N	\N	EFO	0	EFO	Myoclonic epilepsy of infancy	Myoclonic epilepsy of infancy
Orphanet:98258	Orphanet:86909	\N	"" []	Orphanet:86909	"" []	222903	\N	\N	EFO	1	EFO	Infantile epilepsy syndrome	Myoclonic epilepsy of infancy
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:86909	"" []	579236	\N	\N	EFO	2	EFO	Epilepsy syndrome	Myoclonic epilepsy of infancy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:86909	"" []	1162890	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Myoclonic epilepsy of infancy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:86909	"" []	2046548	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Myoclonic epilepsy of infancy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86909	"" []	3196610	\N	\N	EFO	5	EFO	genetic disorder	Myoclonic epilepsy of infancy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86909	"" []	4402224	\N	\N	EFO	6	EFO	disease	Myoclonic epilepsy of infancy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86909	"" []	5418288	\N	\N	EFO	7	EFO	disposition	Myoclonic epilepsy of infancy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86909	"" []	6152930	\N	\N	EFO	8	EFO	material property	Myoclonic epilepsy of infancy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86909	"" []	6634222	\N	\N	EFO	9	EFO	experimental factor	Myoclonic epilepsy of infancy
Orphanet:86913	\N	\N	"" []	Orphanet:86913	"" []	78259	\N	\N	EFO	0	EFO	Myoclonic epilepsy in non-progressive encephalopathies	Myoclonic epilepsy in non-progressive encephalopathies
Orphanet:98258	Orphanet:86913	\N	"" []	Orphanet:86913	"" []	222904	\N	\N	EFO	1	EFO	Infantile epilepsy syndrome	Myoclonic epilepsy in non-progressive encephalopathies
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:86913	"" []	579237	\N	\N	EFO	2	EFO	Epilepsy syndrome	Myoclonic epilepsy in non-progressive encephalopathies
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:86913	"" []	1162891	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Myoclonic epilepsy in non-progressive encephalopathies
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:86913	"" []	2046549	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Myoclonic epilepsy in non-progressive encephalopathies
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86913	"" []	3196611	\N	\N	EFO	5	EFO	genetic disorder	Myoclonic epilepsy in non-progressive encephalopathies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86913	"" []	4402225	\N	\N	EFO	6	EFO	disease	Myoclonic epilepsy in non-progressive encephalopathies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86913	"" []	5418289	\N	\N	EFO	7	EFO	disposition	Myoclonic epilepsy in non-progressive encephalopathies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86913	"" []	6152931	\N	\N	EFO	8	EFO	material property	Myoclonic epilepsy in non-progressive encephalopathies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86913	"" []	6634223	\N	\N	EFO	9	EFO	experimental factor	Myoclonic epilepsy in non-progressive encephalopathies
Orphanet:86914	\N	\N	"" []	Orphanet:86914	"" []	78260	\N	\N	EFO	0	EFO	Lymphedema - cerebral arteriovenous anomaly	Lymphedema - cerebral arteriovenous anomaly
Orphanet:89832	Orphanet:86914	\N	"" []	Orphanet:86914	"" []	222905	\N	\N	EFO	1	EFO	Syndromic lymphedema	Lymphedema - cerebral arteriovenous anomaly
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:86914	"" []	579238	\N	\N	EFO	2	EFO	Lymphedema	Lymphedema - cerebral arteriovenous anomaly
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:86914	"" []	1162892	\N	\N	EFO	3	EFO	Rare genetic skin disease	Lymphedema - cerebral arteriovenous anomaly
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86914	"" []	2046550	\N	\N	EFO	4	EFO	genetic disorder	Lymphedema - cerebral arteriovenous anomaly
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:86914	"" []	2046551	\N	\N	EFO	4	EFO	skin disease	Lymphedema - cerebral arteriovenous anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86914	"" []	3196612	\N	\N	EFO	5	EFO	disease	Lymphedema - cerebral arteriovenous anomaly
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86914	"" []	3196613	\N	\N	EFO	5	EFO	disease	Lymphedema - cerebral arteriovenous anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86914	"" []	4402226	\N	\N	EFO	6	EFO	disposition	Lymphedema - cerebral arteriovenous anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86914	"" []	5418290	\N	\N	EFO	7	EFO	material property	Lymphedema - cerebral arteriovenous anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86914	"" []	6152932	\N	\N	EFO	8	EFO	experimental factor	Lymphedema - cerebral arteriovenous anomaly
Orphanet:86915	\N	\N	"" []	Orphanet:86915	"" []	78261	\N	\N	EFO	0	EFO	Lymphedema - atrial septal defects - facial changes	Lymphedema - atrial septal defects - facial changes
Orphanet:89832	Orphanet:86915	\N	"" []	Orphanet:86915	"" []	222906	\N	\N	EFO	1	EFO	Syndromic lymphedema	Lymphedema - atrial septal defects - facial changes
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:86915	"" []	579239	\N	\N	EFO	2	EFO	Lymphedema	Lymphedema - atrial septal defects - facial changes
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:86915	"" []	1162893	\N	\N	EFO	3	EFO	Rare genetic skin disease	Lymphedema - atrial septal defects - facial changes
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86915	"" []	2046552	\N	\N	EFO	4	EFO	genetic disorder	Lymphedema - atrial septal defects - facial changes
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:86915	"" []	2046553	\N	\N	EFO	4	EFO	skin disease	Lymphedema - atrial septal defects - facial changes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86915	"" []	3196614	\N	\N	EFO	5	EFO	disease	Lymphedema - atrial septal defects - facial changes
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86915	"" []	3196615	\N	\N	EFO	5	EFO	disease	Lymphedema - atrial septal defects - facial changes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86915	"" []	4402227	\N	\N	EFO	6	EFO	disposition	Lymphedema - atrial septal defects - facial changes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86915	"" []	5418291	\N	\N	EFO	7	EFO	material property	Lymphedema - atrial septal defects - facial changes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86915	"" []	6152933	\N	\N	EFO	8	EFO	experimental factor	Lymphedema - atrial septal defects - facial changes
Orphanet:86917	\N	\N	"" []	Orphanet:86917	"" []	78262	\N	\N	EFO	0	EFO	Lymphedema - cleft palate	Lymphedema - cleft palate
Orphanet:330206	Orphanet:86917	\N	"" []	Orphanet:86917	"" []	222907	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Lymphedema - cleft palate
Orphanet:89832	Orphanet:86917	\N	"" []	Orphanet:86917	"" []	222908	\N	\N	EFO	1	EFO	Syndromic lymphedema	Lymphedema - cleft palate
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:86917	"" []	579240	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lymphedema - cleft palate
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:86917	"" []	579241	\N	\N	EFO	2	EFO	Lymphedema	Lymphedema - cleft palate
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:86917	"" []	1162894	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lymphedema - cleft palate
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:86917	"" []	1162895	\N	\N	EFO	3	EFO	Rare genetic skin disease	Lymphedema - cleft palate
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86917	"" []	2046554	\N	\N	EFO	4	EFO	genetic disorder	Lymphedema - cleft palate
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86917	"" []	2046555	\N	\N	EFO	4	EFO	genetic disorder	Lymphedema - cleft palate
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:86917	"" []	2046556	\N	\N	EFO	4	EFO	skin disease	Lymphedema - cleft palate
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86917	"" []	3196616	\N	\N	EFO	5	EFO	disease	Lymphedema - cleft palate
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86917	"" []	3196617	\N	\N	EFO	5	EFO	disease	Lymphedema - cleft palate
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86917	"" []	4402228	\N	\N	EFO	6	EFO	disposition	Lymphedema - cleft palate
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86917	"" []	5418292	\N	\N	EFO	7	EFO	material property	Lymphedema - cleft palate
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86917	"" []	6152934	\N	\N	EFO	8	EFO	experimental factor	Lymphedema - cleft palate
Orphanet:86918	\N	\N	"" []	Orphanet:86918	"" []	78263	\N	\N	EFO	0	EFO	Diffuse palmoplantar keratoderma-acrocyanosis syndrome	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Orphanet:98352	Orphanet:86918	\N	"" []	Orphanet:86918	"" []	222909	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:86918	"" []	579242	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:86918	"" []	1162896	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:86918	"" []	2046557	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:86918	"" []	3196618	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:86918	"" []	4402229	\N	\N	EFO	6	EFO	Rare genetic skin disease	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86918	"" []	5418293	\N	\N	EFO	7	EFO	genetic disorder	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:86918	"" []	5418294	\N	\N	EFO	7	EFO	skin disease	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86918	"" []	6152935	\N	\N	EFO	8	EFO	disease	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86918	"" []	6152936	\N	\N	EFO	8	EFO	disease	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86918	"" []	6634224	\N	\N	EFO	9	EFO	disposition	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86918	"" []	6926271	\N	\N	EFO	10	EFO	material property	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86918	"" []	7099314	\N	\N	EFO	11	EFO	experimental factor	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Orphanet:86919	\N	\N	"" []	Orphanet:86919	"" []	78264	\N	\N	EFO	0	EFO	Keratosis palmaris et plantaris - clinodactyly	Keratosis palmaris et plantaris - clinodactyly
Orphanet:98352	Orphanet:86919	\N	"" []	Orphanet:86919	"" []	222910	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Keratosis palmaris et plantaris - clinodactyly
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:86919	"" []	579243	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Keratosis palmaris et plantaris - clinodactyly
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:86919	"" []	1162897	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Keratosis palmaris et plantaris - clinodactyly
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:86919	"" []	2046558	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Keratosis palmaris et plantaris - clinodactyly
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:86919	"" []	3196619	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Keratosis palmaris et plantaris - clinodactyly
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:86919	"" []	4402230	\N	\N	EFO	6	EFO	Rare genetic skin disease	Keratosis palmaris et plantaris - clinodactyly
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86919	"" []	5418295	\N	\N	EFO	7	EFO	genetic disorder	Keratosis palmaris et plantaris - clinodactyly
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:86919	"" []	5418296	\N	\N	EFO	7	EFO	skin disease	Keratosis palmaris et plantaris - clinodactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86919	"" []	6152937	\N	\N	EFO	8	EFO	disease	Keratosis palmaris et plantaris - clinodactyly
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86919	"" []	6152938	\N	\N	EFO	8	EFO	disease	Keratosis palmaris et plantaris - clinodactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86919	"" []	6634225	\N	\N	EFO	9	EFO	disposition	Keratosis palmaris et plantaris - clinodactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86919	"" []	6926272	\N	\N	EFO	10	EFO	material property	Keratosis palmaris et plantaris - clinodactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86919	"" []	7099315	\N	\N	EFO	11	EFO	experimental factor	Keratosis palmaris et plantaris - clinodactyly
Orphanet:86920	\N	\N	"" []	Orphanet:86920	"" []	78265	\N	\N	EFO	0	EFO	Dermatopathia pigmentosa reticularis	Dermatopathia pigmentosa reticularis
Orphanet:183466	Orphanet:86920	\N	"" []	Orphanet:86920	"" []	222911	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Dermatopathia pigmentosa reticularis
Orphanet:79373	Orphanet:86920	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:86920	"" []	222912	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Dermatopathia pigmentosa reticularis
Orphanet:98352	Orphanet:86920	\N	"" []	Orphanet:86920	"" []	222913	\N	\N	EFO	1	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Dermatopathia pigmentosa reticularis
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:86920	"" []	579244	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Dermatopathia pigmentosa reticularis
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:86920	"" []	579245	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Dermatopathia pigmentosa reticularis
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:86920	"" []	579246	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Dermatopathia pigmentosa reticularis
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:86920	"" []	579247	\N	\N	EFO	2	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Dermatopathia pigmentosa reticularis
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:86920	"" []	1162898	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dermatopathia pigmentosa reticularis
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:86920	"" []	1162899	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dermatopathia pigmentosa reticularis
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:86920	"" []	1162900	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dermatopathia pigmentosa reticularis
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:86920	"" []	1162901	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Dermatopathia pigmentosa reticularis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86920	"" []	5418298	\N	\N	EFO	7	EFO	genetic disorder	Dermatopathia pigmentosa reticularis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:86920	"" []	5418299	\N	\N	EFO	7	EFO	skin disease	Dermatopathia pigmentosa reticularis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86920	"" []	2046561	\N	\N	EFO	4	EFO	genetic disorder	Dermatopathia pigmentosa reticularis
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:86920	"" []	2046562	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Dermatopathia pigmentosa reticularis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86920	"" []	5817877	\N	\N	EFO	8	EFO	disease	Dermatopathia pigmentosa reticularis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86920	"" []	5817878	\N	\N	EFO	8	EFO	disease	Dermatopathia pigmentosa reticularis
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:86920	"" []	3196622	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Dermatopathia pigmentosa reticularis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86920	"" []	6410380	\N	\N	EFO	9	EFO	disposition	Dermatopathia pigmentosa reticularis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:86920	"" []	4402232	\N	\N	EFO	6	EFO	Rare genetic skin disease	Dermatopathia pigmentosa reticularis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86920	"" []	6808189	\N	\N	EFO	10	EFO	material property	Dermatopathia pigmentosa reticularis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86920	"" []	7048815	\N	\N	EFO	11	EFO	experimental factor	Dermatopathia pigmentosa reticularis
Orphanet:86923	\N	\N	"" []	Orphanet:86923	"" []	78266	\N	\N	EFO	0	EFO	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Orphanet:98356	Orphanet:86923	\N	"" []	Orphanet:86923	"" []	222914	\N	\N	EFO	1	EFO	Autosomal recessive isolated diffuse palmoplantar keratoderma	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Orphanet:307148	Orphanet:98356	\N	"" []	Orphanet:86923	"" []	579248	\N	\N	EFO	2	EFO	Isolated diffuse palmoplantar keratoderma	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Orphanet:307141	Orphanet:307148	\N	"" []	Orphanet:86923	"" []	1162902	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:86923	"" []	2046563	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:86923	"" []	3196623	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:86923	"" []	4402233	\N	\N	EFO	6	EFO	Rare genetic skin disease	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:86923	"" []	5418300	\N	\N	EFO	7	EFO	genetic disorder	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:86923	"" []	5418301	\N	\N	EFO	7	EFO	skin disease	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86923	"" []	6152940	\N	\N	EFO	8	EFO	disease	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:86923	"" []	6152941	\N	\N	EFO	8	EFO	disease	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:86923	"" []	6634226	\N	\N	EFO	9	EFO	disposition	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:86923	"" []	6926273	\N	\N	EFO	10	EFO	material property	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:86923	"" []	7099316	\N	\N	EFO	11	EFO	experimental factor	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Orphanet:87	\N	\N	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	78267	\N	\N	EFO	0	EFO	Apert syndrome	Apert syndrome
Orphanet:138055	Orphanet:87	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	222915	\N	\N	EFO	1	EFO	Pierre Robin syndrome associated with bone disease	Apert syndrome
Orphanet:946	Orphanet:87	\N	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	222916	\N	\N	EFO	1	EFO	Acrocephalosyndactyly	Apert syndrome
Orphanet:98684	Orphanet:87	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	222917	\N	\N	EFO	1	EFO	Craniostenosis associated with a strabismus	Apert syndrome
Orphanet:363294	Orphanet:138055	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	579249	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Apert syndrome
Orphanet:139393	Orphanet:946	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	579250	\N	\N	EFO	2	EFO	Syndromic craniosynostosis	Apert syndrome
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	579251	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Apert syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	1162903	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Apert syndrome
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	1162904	\N	\N	EFO	3	EFO	Craniosynostosis	Apert syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	1162905	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Apert syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	2046564	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Apert syndrome
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	2046565	\N	\N	EFO	4	EFO	Genetic cranial malformation	Apert syndrome
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	2046566	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Apert syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	2046567	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Apert syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	3196624	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Apert syndrome
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	3196625	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Apert syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	3196626	\N	\N	EFO	5	EFO	Rare genetic bone disease	Apert syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	3196627	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Apert syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	3196628	\N	\N	EFO	5	EFO	Rare genetic eye disease	Apert syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	4402234	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Apert syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	5418302	\N	\N	EFO	7	EFO	genetic disorder	Apert syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	4402236	\N	\N	EFO	6	EFO	genetic disorder	Apert syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	4402237	\N	\N	EFO	6	EFO	bone disease	Apert syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	4402238	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Apert syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	4402239	\N	\N	EFO	6	EFO	genetic disorder	Apert syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	4402240	\N	\N	EFO	6	EFO	eye disease	Apert syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	5998805	\N	\N	EFO	8	EFO	disease	Apert syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	5418304	\N	\N	EFO	7	EFO	skeletal system disease	Apert syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	5418305	\N	\N	EFO	7	EFO	disease	Apert syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	6551833	\N	\N	EFO	9	EFO	disposition	Apert syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	6152943	\N	\N	EFO	8	EFO	disease	Apert syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	6889553	\N	\N	EFO	10	EFO	material property	Apert syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:87	"Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." []	7086063	\N	\N	EFO	11	EFO	experimental factor	Apert syndrome
Orphanet:871	\N	\N	"Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." []	Orphanet:871	"Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." []	78268	\N	\N	EFO	0	EFO	Familial progressive cardiac conduction defect	Familial progressive cardiac conduction defect
Orphanet:101934	Orphanet:871	\N	"" []	Orphanet:871	"Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." []	222918	\N	\N	EFO	1	EFO	Genetic cardiac rhythm disease	Familial progressive cardiac conduction defect
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:871	"Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." []	579252	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Familial progressive cardiac conduction defect
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:871	"Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." []	1162906	\N	\N	EFO	3	EFO	genetic disorder	Familial progressive cardiac conduction defect
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:871	"Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." []	1162907	\N	\N	EFO	3	EFO	heart disease	Familial progressive cardiac conduction defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:871	"Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." []	2046568	\N	\N	EFO	4	EFO	disease	Familial progressive cardiac conduction defect
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:871	"Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." []	2046569	\N	\N	EFO	4	EFO	cardiovascular disease	Familial progressive cardiac conduction defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:871	"Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." []	4402242	\N	\N	EFO	6	EFO	disposition	Familial progressive cardiac conduction defect
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:871	"Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." []	3196630	\N	\N	EFO	5	EFO	disease	Familial progressive cardiac conduction defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:871	"Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." []	5183477	\N	\N	EFO	7	EFO	material property	Familial progressive cardiac conduction defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:871	"Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." []	5998806	\N	\N	EFO	8	EFO	experimental factor	Familial progressive cardiac conduction defect
Orphanet:87503	\N	\N	"" []	Orphanet:87503	"" []	78269	\N	\N	EFO	0	EFO	Mal de Meleda	Mal de Meleda
Orphanet:98356	Orphanet:87503	\N	"" []	Orphanet:87503	"" []	222919	\N	\N	EFO	1	EFO	Autosomal recessive isolated diffuse palmoplantar keratoderma	Mal de Meleda
Orphanet:307148	Orphanet:98356	\N	"" []	Orphanet:87503	"" []	579253	\N	\N	EFO	2	EFO	Isolated diffuse palmoplantar keratoderma	Mal de Meleda
Orphanet:307141	Orphanet:307148	\N	"" []	Orphanet:87503	"" []	1162908	\N	\N	EFO	3	EFO	Diffuse palmoplantar keratoderma	Mal de Meleda
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:87503	"" []	2046570	\N	\N	EFO	4	EFO	Hereditary palmoplantar keratoderma	Mal de Meleda
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:87503	"" []	3196631	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Mal de Meleda
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:87503	"" []	4402243	\N	\N	EFO	6	EFO	Rare genetic skin disease	Mal de Meleda
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:87503	"" []	5418307	\N	\N	EFO	7	EFO	genetic disorder	Mal de Meleda
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:87503	"" []	5418308	\N	\N	EFO	7	EFO	skin disease	Mal de Meleda
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:87503	"" []	6152944	\N	\N	EFO	8	EFO	disease	Mal de Meleda
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:87503	"" []	6152945	\N	\N	EFO	8	EFO	disease	Mal de Meleda
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:87503	"" []	6634228	\N	\N	EFO	9	EFO	disposition	Mal de Meleda
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:87503	"" []	6926275	\N	\N	EFO	10	EFO	material property	Mal de Meleda
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:87503	"" []	7099317	\N	\N	EFO	11	EFO	experimental factor	Mal de Meleda
Orphanet:87876	\N	\N	"" []	Orphanet:87876	"" []	78270	\N	\N	EFO	0	EFO	Sialidosis type 2	Sialidosis type 2
Orphanet:102283	Orphanet:87876	\N	"" []	Orphanet:87876	"" []	222920	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Sialidosis type 2
Orphanet:182073	Orphanet:87876	\N	"" []	Orphanet:87876	"" []	222921	\N	\N	EFO	1	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Sialidosis type 2
Orphanet:309294	Orphanet:87876	\N	"" []	Orphanet:87876	"" []	222922	\N	\N	EFO	1	EFO	Sialidosis	Sialidosis type 2
Orphanet:93448	Orphanet:87876	\N	"" []	Orphanet:87876	"" []	222923	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Sialidosis type 2
Orphanet:93593	Orphanet:87876	\N	"" []	Orphanet:87876	"" []	222924	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Sialidosis type 2
Orphanet:98712	Orphanet:87876	\N	"" []	Orphanet:87876	"" []	222925	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Sialidosis type 2
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:87876	"" []	579254	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Sialidosis type 2
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:87876	"" []	579255	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Sialidosis type 2
Orphanet:79215	Orphanet:309294	\N	"" []	Orphanet:87876	"" []	579256	\N	\N	EFO	2	EFO	Oligosaccharidosis	Sialidosis type 2
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:87876	"" []	579257	\N	\N	EFO	2	EFO	Rare genetic bone disease	Sialidosis type 2
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:87876	"" []	579258	\N	\N	EFO	2	EFO	Rare genetic renal disease	Sialidosis type 2
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:87876	"" []	579259	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Sialidosis type 2
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:87876	"" []	1162909	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Sialidosis type 2
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:87876	"" []	1162910	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Sialidosis type 2
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:87876	"" []	1162911	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Sialidosis type 2
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:87876	"" []	1162912	\N	\N	EFO	3	EFO	Glycoproteinosis	Sialidosis type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:87876	"" []	1162913	\N	\N	EFO	3	EFO	genetic disorder	Sialidosis type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:87876	"" []	1162914	\N	\N	EFO	3	EFO	bone disease	Sialidosis type 2
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:87876	"" []	1162915	\N	\N	EFO	3	EFO	genetic disorder	Sialidosis type 2
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:87876	"" []	1162916	\N	\N	EFO	3	EFO	Rare genetic eye disease	Sialidosis type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:87876	"" []	3196634	\N	\N	EFO	5	EFO	genetic disorder	Sialidosis type 2
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:87876	"" []	2046572	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Sialidosis type 2
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:87876	"" []	2046573	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sialidosis type 2
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:87876	"" []	2046574	\N	\N	EFO	4	EFO	Lysosomal disease	Sialidosis type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:87876	"" []	5418309	\N	\N	EFO	7	EFO	disease	Sialidosis type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:87876	"" []	2046576	\N	\N	EFO	4	EFO	skeletal system disease	Sialidosis type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:87876	"" []	2046577	\N	\N	EFO	4	EFO	genetic disorder	Sialidosis type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:87876	"" []	2046578	\N	\N	EFO	4	EFO	eye disease	Sialidosis type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:87876	"" []	3196633	\N	\N	EFO	5	EFO	genetic disorder	Sialidosis type 2
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:87876	"" []	3196635	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Sialidosis type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:87876	"" []	5817879	\N	\N	EFO	8	EFO	disposition	Sialidosis type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:87876	"" []	3196637	\N	\N	EFO	5	EFO	disease	Sialidosis type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:87876	"" []	3196638	\N	\N	EFO	5	EFO	disease	Sialidosis type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:87876	"" []	4402244	\N	\N	EFO	6	EFO	genetic disorder	Sialidosis type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:87876	"" []	4402245	\N	\N	EFO	6	EFO	metabolic disease	Sialidosis type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:87876	"" []	6410381	\N	\N	EFO	9	EFO	material property	Sialidosis type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:87876	"" []	5418310	\N	\N	EFO	7	EFO	disease	Sialidosis type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:87876	"" []	6808190	\N	\N	EFO	10	EFO	experimental factor	Sialidosis type 2
Orphanet:87884	\N	\N	"" []	Orphanet:87884	"" []	78271	\N	\N	EFO	0	EFO	Non-syndromic genetic deafness	Non-syndromic genetic deafness
Orphanet:96210	Orphanet:87884	\N	"" []	Orphanet:87884	"" []	222926	\N	\N	EFO	1	EFO	Rare genetic deafness	Non-syndromic genetic deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:87884	"" []	579260	\N	\N	EFO	2	EFO	genetic disorder	Non-syndromic genetic deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:87884	"" []	579261	\N	\N	EFO	2	EFO	auditory system disease	Non-syndromic genetic deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:87884	"" []	1162917	\N	\N	EFO	3	EFO	disease	Non-syndromic genetic deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:87884	"" []	1162918	\N	\N	EFO	3	EFO	sensory system disease	Non-syndromic genetic deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:87884	"" []	4402248	\N	\N	EFO	6	EFO	disposition	Non-syndromic genetic deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:87884	"" []	2046580	\N	\N	EFO	4	EFO	nervous system disease	Non-syndromic genetic deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:87884	"" []	5060298	\N	\N	EFO	7	EFO	material property	Non-syndromic genetic deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:87884	"" []	3196640	\N	\N	EFO	5	EFO	disease	Non-syndromic genetic deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:87884	"" []	5877789	\N	\N	EFO	8	EFO	experimental factor	Non-syndromic genetic deafness
Orphanet:881	\N	\N	"" []	Orphanet:881	"" []	78272	\N	\N	EFO	0	EFO	Turner syndrome	Turner syndrome
Orphanet:108987	Orphanet:881	\N	"" []	Orphanet:881	"" []	222927	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Turner syndrome
Orphanet:165707	Orphanet:881	\N	"" []	Orphanet:881	"" []	222928	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Turner syndrome
Orphanet:263717	Orphanet:881	\N	"" []	Orphanet:881	"" []	222929	\N	\N	EFO	1	EFO	X chromosome number anomaly with female phenotype	Turner syndrome
Orphanet:325546	Orphanet:881	\N	"" []	Orphanet:881	"" []	222930	\N	\N	EFO	1	EFO	Sex chromosome disorder of sex development	Turner syndrome
Orphanet:325638	Orphanet:881	\N	"" []	Orphanet:881	"" []	222931	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	Turner syndrome
Orphanet:399877	Orphanet:881	\N	"" []	Orphanet:881	"" []	222932	\N	\N	EFO	1	EFO	Female infertility due to gonadal dysgenesis	Turner syndrome
Orphanet:93547	Orphanet:881	\N	"" []	Orphanet:881	"" []	222933	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Turner syndrome
Orphanet:95710	Orphanet:881	\N	"" []	Orphanet:881	"" []	222934	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	Turner syndrome
Orphanet:98574	Orphanet:881	\N	"" []	Orphanet:881	"" []	222935	\N	\N	EFO	1	EFO	Syndromic epicanthus	Turner syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:881	"" []	579262	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Turner syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:881	"" []	579263	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Turner syndrome
Orphanet:263714	Orphanet:263717	\N	"" []	Orphanet:881	"" []	579264	\N	\N	EFO	2	EFO	X chromosome number anomaly	Turner syndrome
Orphanet:325690	Orphanet:325546	\N	"" []	Orphanet:881	"" []	579265	\N	\N	EFO	2	EFO	Genetic disorder of sex development	Turner syndrome
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:881	"" []	579266	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Turner syndrome
Orphanet:400008	Orphanet:399877	\N	"" []	Orphanet:881	"" []	579267	\N	\N	EFO	2	EFO	Rare genetic female infertility	Turner syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:881	"" []	579268	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Turner syndrome
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:881	"" []	579269	\N	\N	EFO	2	EFO	ovarian disease	Turner syndrome
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:881	"" []	579270	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Turner syndrome
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:881	"" []	579271	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Turner syndrome
Orphanet:98573	Orphanet:98574	\N	"" []	Orphanet:881	"" []	579272	\N	\N	EFO	2	EFO	Epicanthal fold	Turner syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:881	"" []	1162919	\N	\N	EFO	3	EFO	Rare genetic eye disease	Turner syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:881	"" []	1162920	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Turner syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:881	"" []	1162921	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Turner syndrome
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:881	"" []	1162922	\N	\N	EFO	3	EFO	Gonosome number anomaly	Turner syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:881	"" []	1162923	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Turner syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:881	"" []	1162924	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Turner syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:881	"" []	1162925	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Turner syndrome
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:881	"" []	1162926	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Turner syndrome
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:881	"" []	1162927	\N	\N	EFO	3	EFO	Genetic infertility	Turner syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:881	"" []	1162928	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Turner syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:881	"" []	1162929	\N	\N	EFO	3	EFO	Rare genetic renal disease	Turner syndrome
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:881	"" []	1162930	\N	\N	EFO	3	EFO	reproductive system disease	Turner syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:881	"" []	2046586	\N	\N	EFO	4	EFO	genetic disorder	Turner syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:881	"" []	2046587	\N	\N	EFO	4	EFO	endocrine system disease	Turner syndrome
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:881	"" []	1162933	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Turner syndrome
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:881	"" []	1162934	\N	\N	EFO	3	EFO	Canthal anomaly	Turner syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:881	"" []	5418314	\N	\N	EFO	7	EFO	genetic disorder	Turner syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:881	"" []	5418315	\N	\N	EFO	7	EFO	eye disease	Turner syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:881	"" []	2046583	\N	\N	EFO	4	EFO	genetic disorder	Turner syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:881	"" []	2046584	\N	\N	EFO	4	EFO	genetic disorder	Turner syndrome
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:881	"" []	2046585	\N	\N	EFO	4	EFO	Gonosome anomaly	Turner syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:881	"" []	2046588	\N	\N	EFO	4	EFO	genetic disorder	Turner syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:881	"" []	2046589	\N	\N	EFO	4	EFO	reproductive system disease	Turner syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:881	"" []	2046590	\N	\N	EFO	4	EFO	genetic disorder	Turner syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:881	"" []	2046591	\N	\N	EFO	4	EFO	reproductive system disease	Turner syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:881	"" []	2046592	\N	\N	EFO	4	EFO	genetic disorder	Turner syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:881	"" []	3196643	\N	\N	EFO	5	EFO	disease	Turner syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:881	"" []	5817880	\N	\N	EFO	8	EFO	disease	Turner syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:881	"" []	3000466	\N	\N	EFO	5	EFO	disease	Turner syndrome
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:881	"" []	2046596	\N	\N	EFO	4	EFO	Rare palpebral disease	Turner syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:881	"" []	5817881	\N	\N	EFO	8	EFO	disease	Turner syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:881	"" []	3196642	\N	\N	EFO	5	EFO	Chromosomal anomaly	Turner syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:881	"" []	6379002	\N	\N	EFO	9	EFO	disposition	Turner syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:881	"" []	3196645	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Turner syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:881	"" []	4402249	\N	\N	EFO	6	EFO	genetic disorder	Turner syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:881	"" []	6778838	\N	\N	EFO	10	EFO	material property	Turner syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:881	"" []	4402251	\N	\N	EFO	6	EFO	Rare genetic eye disease	Turner syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:881	"" []	7030025	\N	\N	EFO	11	EFO	experimental factor	Turner syndrome
Orphanet:882	\N	\N	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	78273	\N	\N	EFO	0	EFO	Tyrosinemia type 1	Tyrosinemia type 1
Orphanet:101940	Orphanet:882	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	222936	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Tyrosinemia type 1
Orphanet:183422	Orphanet:882	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	222937	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Tyrosinemia type 1
Orphanet:207018	Orphanet:882	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	222938	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Tyrosinemia type 1
Orphanet:284818	Orphanet:882	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	222939	\N	\N	EFO	1	EFO	Disorder of tyrosine metabolism	Tyrosinemia type 1
Orphanet:93593	Orphanet:882	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	222940	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Tyrosinemia type 1
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	579273	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Tyrosinemia type 1
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	579274	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Tyrosinemia type 1
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	579275	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Tyrosinemia type 1
Orphanet:79190	Orphanet:284818	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	579276	\N	\N	EFO	2	EFO	Disorder of phenylalanin or tyrosine metabolism	Tyrosinemia type 1
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	579277	\N	\N	EFO	2	EFO	Rare genetic renal disease	Tyrosinemia type 1
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	1162935	\N	\N	EFO	3	EFO	digestive system disease	Tyrosinemia type 1
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	1162936	\N	\N	EFO	3	EFO	genetic disorder	Tyrosinemia type 1
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	1162937	\N	\N	EFO	3	EFO	genetic disorder	Tyrosinemia type 1
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	1162938	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Tyrosinemia type 1
Orphanet:79062	Orphanet:79190	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	1162939	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Tyrosinemia type 1
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	1162940	\N	\N	EFO	3	EFO	genetic disorder	Tyrosinemia type 1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	2046597	\N	\N	EFO	4	EFO	disease	Tyrosinemia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	4402253	\N	\N	EFO	6	EFO	disease	Tyrosinemia type 1
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	2046599	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Tyrosinemia type 1
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	2046600	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Tyrosinemia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	5060299	\N	\N	EFO	7	EFO	disposition	Tyrosinemia type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	3196647	\N	\N	EFO	5	EFO	genetic disorder	Tyrosinemia type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	3196648	\N	\N	EFO	5	EFO	genetic disorder	Tyrosinemia type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	3196649	\N	\N	EFO	5	EFO	metabolic disease	Tyrosinemia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	5877790	\N	\N	EFO	8	EFO	material property	Tyrosinemia type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	4402254	\N	\N	EFO	6	EFO	disease	Tyrosinemia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:882	"Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." []	6471010	\N	\N	EFO	9	EFO	experimental factor	Tyrosinemia type 1
Orphanet:884	\N	\N	"" []	Orphanet:884	"" []	78274	\N	\N	EFO	0	EFO	Tetrasomy 12p	Tetrasomy 12p
Orphanet:117573	Orphanet:884	\N	"" []	Orphanet:884	"" []	222941	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Tetrasomy 12p
Orphanet:262658	Orphanet:884	\N	"" []	Orphanet:884	"" []	222942	\N	\N	EFO	1	EFO	Partial trisomy/tetrasomy of the short arm of chromosome 12	Tetrasomy 12p
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:884	"" []	579278	\N	\N	EFO	2	EFO	Anorectal malformation	Tetrasomy 12p
Orphanet:98132	Orphanet:262658	\N	"" []	Orphanet:884	"" []	579279	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Tetrasomy 12p
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:884	"" []	1162941	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Tetrasomy 12p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:884	"" []	1162942	\N	\N	EFO	3	EFO	Autosomal trisomy	Tetrasomy 12p
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:884	"" []	2046601	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Tetrasomy 12p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:884	"" []	2046602	\N	\N	EFO	4	EFO	Autosomal anomaly	Tetrasomy 12p
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:884	"" []	3196650	\N	\N	EFO	5	EFO	genetic disorder	Tetrasomy 12p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:884	"" []	3196651	\N	\N	EFO	5	EFO	Chromosomal anomaly	Tetrasomy 12p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:884	"" []	5418318	\N	\N	EFO	7	EFO	disease	Tetrasomy 12p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:884	"" []	4402256	\N	\N	EFO	6	EFO	genetic disorder	Tetrasomy 12p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:884	"" []	5998809	\N	\N	EFO	8	EFO	disposition	Tetrasomy 12p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:884	"" []	6551834	\N	\N	EFO	9	EFO	material property	Tetrasomy 12p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:884	"" []	6889554	\N	\N	EFO	10	EFO	experimental factor	Tetrasomy 12p
Orphanet:886	\N	\N	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	78275	\N	\N	EFO	0	EFO	Usher syndrome	Usher syndrome
EFO:0003900	Orphanet:886	\N	"Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	222943	\N	\N	EFO	1	EFO	ciliopathy	Usher syndrome
Orphanet:90642	Orphanet:886	\N	"" []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	222944	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Usher syndrome
Orphanet:98661	Orphanet:886	\N	"" []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	222945	\N	\N	EFO	1	EFO	Syndromic retinitis pigmentosa	Usher syndrome
EFO:0000508	EFO:0003900	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	579280	\N	\N	EFO	2	EFO	genetic disorder	Usher syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	579281	\N	\N	EFO	2	EFO	Rare genetic deafness	Usher syndrome
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	579282	\N	\N	EFO	2	EFO	Retinal dystrophy	Usher syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	4402259	\N	\N	EFO	6	EFO	disease	Usher syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	1162944	\N	\N	EFO	3	EFO	genetic disorder	Usher syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	1162945	\N	\N	EFO	3	EFO	auditory system disease	Usher syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	1162946	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Usher syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	5028489	\N	\N	EFO	7	EFO	disposition	Usher syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	2046605	\N	\N	EFO	4	EFO	sensory system disease	Usher syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	2046606	\N	\N	EFO	4	EFO	Rare genetic eye disease	Usher syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	5817883	\N	\N	EFO	8	EFO	material property	Usher syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	3196653	\N	\N	EFO	5	EFO	nervous system disease	Usher syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	3196654	\N	\N	EFO	5	EFO	genetic disorder	Usher syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	3196655	\N	\N	EFO	5	EFO	eye disease	Usher syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	6410383	\N	\N	EFO	9	EFO	experimental factor	Usher syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	4402258	\N	\N	EFO	6	EFO	disease	Usher syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:886	"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." []	4402260	\N	\N	EFO	6	EFO	disease	Usher syndrome
Orphanet:88616	\N	\N	"" []	Orphanet:88616	"" []	78276	\N	\N	EFO	0	EFO	Autosomal recessive non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability
Orphanet:101685	Orphanet:88616	\N	"" []	Orphanet:88616	"" []	222946	\N	\N	EFO	1	EFO	Rare intellectual disability without developmental anomaly	Autosomal recessive non-syndromic intellectual disability
Orphanet:183757	Orphanet:101685	\N	"" []	Orphanet:88616	"" []	579283	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Autosomal recessive non-syndromic intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:88616	"" []	1162947	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive non-syndromic intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88616	"" []	2046607	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive non-syndromic intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88616	"" []	3196656	\N	\N	EFO	5	EFO	disease	Autosomal recessive non-syndromic intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88616	"" []	4402261	\N	\N	EFO	6	EFO	disposition	Autosomal recessive non-syndromic intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88616	"" []	5418319	\N	\N	EFO	7	EFO	material property	Autosomal recessive non-syndromic intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88616	"" []	6152947	\N	\N	EFO	8	EFO	experimental factor	Autosomal recessive non-syndromic intellectual disability
Orphanet:88618	\N	\N	"" []	Orphanet:88618	"" []	78277	\N	\N	EFO	0	EFO	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Orphanet:183763	Orphanet:88618	\N	"" []	Orphanet:88618	"" []	222947	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Orphanet:79173	Orphanet:88618	\N	"" []	Orphanet:88618	"" []	222948	\N	\N	EFO	1	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:88618	"" []	579284	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:88618	"" []	579285	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:88618	"" []	1162948	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:88618	"" []	1162949	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88618	"" []	2046608	\N	\N	EFO	4	EFO	genetic disorder	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88618	"" []	2046609	\N	\N	EFO	4	EFO	genetic disorder	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:88618	"" []	2046610	\N	\N	EFO	4	EFO	metabolic disease	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88618	"" []	3196657	\N	\N	EFO	5	EFO	disease	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88618	"" []	3196658	\N	\N	EFO	5	EFO	disease	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88618	"" []	4402262	\N	\N	EFO	6	EFO	disposition	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88618	"" []	5418320	\N	\N	EFO	7	EFO	material property	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88618	"" []	6152948	\N	\N	EFO	8	EFO	experimental factor	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Orphanet:88619	\N	\N	"" []	Orphanet:88619	"" []	78278	\N	\N	EFO	0	EFO	Familial acute necrotizing encephalopathy	Familial acute necrotizing encephalopathy
Orphanet:71859	Orphanet:88619	\N	"" []	Orphanet:88619	"" []	222949	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Familial acute necrotizing encephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88619	"" []	579286	\N	\N	EFO	2	EFO	genetic disorder	Familial acute necrotizing encephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88619	"" []	1162950	\N	\N	EFO	3	EFO	disease	Familial acute necrotizing encephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88619	"" []	2046611	\N	\N	EFO	4	EFO	disposition	Familial acute necrotizing encephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88619	"" []	3196659	\N	\N	EFO	5	EFO	material property	Familial acute necrotizing encephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88619	"" []	4402263	\N	\N	EFO	6	EFO	experimental factor	Familial acute necrotizing encephalopathy
Orphanet:88621	\N	\N	"" []	Orphanet:88621	"" []	78279	\N	\N	EFO	0	EFO	Ichthyosis prematurity syndrome	Ichthyosis prematurity syndrome
Orphanet:281244	Orphanet:88621	\N	"" []	Orphanet:88621	"" []	222950	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	Ichthyosis prematurity syndrome
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:88621	"" []	579287	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Ichthyosis prematurity syndrome
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:88621	"" []	1162951	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Ichthyosis prematurity syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:88621	"" []	2046612	\N	\N	EFO	4	EFO	Inherited ichthyosis	Ichthyosis prematurity syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:88621	"" []	3196660	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Ichthyosis prematurity syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:88621	"" []	4402264	\N	\N	EFO	6	EFO	Rare genetic skin disease	Ichthyosis prematurity syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88621	"" []	5418321	\N	\N	EFO	7	EFO	genetic disorder	Ichthyosis prematurity syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:88621	"" []	5418322	\N	\N	EFO	7	EFO	skin disease	Ichthyosis prematurity syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88621	"" []	6152949	\N	\N	EFO	8	EFO	disease	Ichthyosis prematurity syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88621	"" []	6152950	\N	\N	EFO	8	EFO	disease	Ichthyosis prematurity syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88621	"" []	6634230	\N	\N	EFO	9	EFO	disposition	Ichthyosis prematurity syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88621	"" []	6926276	\N	\N	EFO	10	EFO	material property	Ichthyosis prematurity syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88621	"" []	7099318	\N	\N	EFO	11	EFO	experimental factor	Ichthyosis prematurity syndrome
Orphanet:88628	\N	\N	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	78280	\N	\N	EFO	0	EFO	Posterior column ataxia - retinitis pigmentosa	Posterior column ataxia - retinitis pigmentosa
Orphanet:98098	Orphanet:88628	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	222951	\N	\N	EFO	1	EFO	Autosomal recessive degenerative and progressive cerebellar ataxia	Posterior column ataxia - retinitis pigmentosa
Orphanet:1172	Orphanet:98098	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	579288	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Posterior column ataxia - retinitis pigmentosa
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	1162952	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Posterior column ataxia - retinitis pigmentosa
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	1162953	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Posterior column ataxia - retinitis pigmentosa
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	1162954	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Posterior column ataxia - retinitis pigmentosa
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	2046613	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Posterior column ataxia - retinitis pigmentosa
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	2046614	\N	\N	EFO	4	EFO	Ataxia with dementia	Posterior column ataxia - retinitis pigmentosa
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	2046615	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Posterior column ataxia - retinitis pigmentosa
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	6152953	\N	\N	EFO	8	EFO	genetic disorder	Posterior column ataxia - retinitis pigmentosa
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	3196662	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Posterior column ataxia - retinitis pigmentosa
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	3196663	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Posterior column ataxia - retinitis pigmentosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	6410384	\N	\N	EFO	9	EFO	disease	Posterior column ataxia - retinitis pigmentosa
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	4402266	\N	\N	EFO	6	EFO	Genetic dementia	Posterior column ataxia - retinitis pigmentosa
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	4402267	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Posterior column ataxia - retinitis pigmentosa
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	4402268	\N	\N	EFO	6	EFO	Rare genetic eye disease	Posterior column ataxia - retinitis pigmentosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	6808192	\N	\N	EFO	10	EFO	disposition	Posterior column ataxia - retinitis pigmentosa
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	5418324	\N	\N	EFO	7	EFO	brain disease	Posterior column ataxia - retinitis pigmentosa
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	5418325	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Posterior column ataxia - retinitis pigmentosa
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	5418326	\N	\N	EFO	7	EFO	neurodegenerative disease	Posterior column ataxia - retinitis pigmentosa
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	5418327	\N	\N	EFO	7	EFO	brain disease	Posterior column ataxia - retinitis pigmentosa
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	5418328	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Posterior column ataxia - retinitis pigmentosa
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	5418329	\N	\N	EFO	7	EFO	genetic disorder	Posterior column ataxia - retinitis pigmentosa
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	5418330	\N	\N	EFO	7	EFO	eye disease	Posterior column ataxia - retinitis pigmentosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	7048816	\N	\N	EFO	11	EFO	material property	Posterior column ataxia - retinitis pigmentosa
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	6152952	\N	\N	EFO	8	EFO	nervous system disease	Posterior column ataxia - retinitis pigmentosa
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	6152954	\N	\N	EFO	8	EFO	nervous system disease	Posterior column ataxia - retinitis pigmentosa
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	6152956	\N	\N	EFO	8	EFO	disease	Posterior column ataxia - retinitis pigmentosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	7190258	\N	\N	EFO	12	EFO	experimental factor	Posterior column ataxia - retinitis pigmentosa
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88628	"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." []	6634232	\N	\N	EFO	9	EFO	disease	Posterior column ataxia - retinitis pigmentosa
Orphanet:88629	\N	\N	"Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Blues appear greenish, yellows and oranges appear pinkish, and purple colors appear deep red. It is related to chromosome 7. Unlike protanopia and deuteranopia, tritanopia and tritanomaly are not sex-linked traits and can be acquired rather than inherited and can be reversed in some cases." []	Orphanet:88629	"Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Blues appear greenish, yellows and oranges appear pinkish, and purple colors appear deep red. It is related to chromosome 7. Unlike protanopia and deuteranopia, tritanopia and tritanomaly are not sex-linked traits and can be acquired rather than inherited and can be reversed in some cases." []	78281	\N	\N	EFO	0	EFO	Tritanopia	Tritanopia
Orphanet:98658	Orphanet:88629	\N	"" []	Orphanet:88629	"Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Blues appear greenish, yellows and oranges appear pinkish, and purple colors appear deep red. It is related to chromosome 7. Unlike protanopia and deuteranopia, tritanopia and tritanomaly are not sex-linked traits and can be acquired rather than inherited and can be reversed in some cases." []	222952	\N	\N	EFO	1	EFO	Color-vision disease	Tritanopia
Orphanet:98657	Orphanet:98658	\N	"" []	Orphanet:88629	"Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Blues appear greenish, yellows and oranges appear pinkish, and purple colors appear deep red. It is related to chromosome 7. Unlike protanopia and deuteranopia, tritanopia and tritanomaly are not sex-linked traits and can be acquired rather than inherited and can be reversed in some cases." []	579289	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Tritanopia
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:88629	"Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Blues appear greenish, yellows and oranges appear pinkish, and purple colors appear deep red. It is related to chromosome 7. Unlike protanopia and deuteranopia, tritanopia and tritanomaly are not sex-linked traits and can be acquired rather than inherited and can be reversed in some cases." []	1162955	\N	\N	EFO	3	EFO	Rare genetic eye disease	Tritanopia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88629	"Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Blues appear greenish, yellows and oranges appear pinkish, and purple colors appear deep red. It is related to chromosome 7. Unlike protanopia and deuteranopia, tritanopia and tritanomaly are not sex-linked traits and can be acquired rather than inherited and can be reversed in some cases." []	2046616	\N	\N	EFO	4	EFO	genetic disorder	Tritanopia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:88629	"Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Blues appear greenish, yellows and oranges appear pinkish, and purple colors appear deep red. It is related to chromosome 7. Unlike protanopia and deuteranopia, tritanopia and tritanomaly are not sex-linked traits and can be acquired rather than inherited and can be reversed in some cases." []	2046617	\N	\N	EFO	4	EFO	eye disease	Tritanopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88629	"Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Blues appear greenish, yellows and oranges appear pinkish, and purple colors appear deep red. It is related to chromosome 7. Unlike protanopia and deuteranopia, tritanopia and tritanomaly are not sex-linked traits and can be acquired rather than inherited and can be reversed in some cases." []	3196664	\N	\N	EFO	5	EFO	disease	Tritanopia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88629	"Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Blues appear greenish, yellows and oranges appear pinkish, and purple colors appear deep red. It is related to chromosome 7. Unlike protanopia and deuteranopia, tritanopia and tritanomaly are not sex-linked traits and can be acquired rather than inherited and can be reversed in some cases." []	3196665	\N	\N	EFO	5	EFO	disease	Tritanopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88629	"Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Blues appear greenish, yellows and oranges appear pinkish, and purple colors appear deep red. It is related to chromosome 7. Unlike protanopia and deuteranopia, tritanopia and tritanomaly are not sex-linked traits and can be acquired rather than inherited and can be reversed in some cases." []	4402269	\N	\N	EFO	6	EFO	disposition	Tritanopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88629	"Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Blues appear greenish, yellows and oranges appear pinkish, and purple colors appear deep red. It is related to chromosome 7. Unlike protanopia and deuteranopia, tritanopia and tritanomaly are not sex-linked traits and can be acquired rather than inherited and can be reversed in some cases." []	5418331	\N	\N	EFO	7	EFO	material property	Tritanopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88629	"Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Blues appear greenish, yellows and oranges appear pinkish, and purple colors appear deep red. It is related to chromosome 7. Unlike protanopia and deuteranopia, tritanopia and tritanomaly are not sex-linked traits and can be acquired rather than inherited and can be reversed in some cases." []	6152957	\N	\N	EFO	8	EFO	experimental factor	Tritanopia
Orphanet:88630	\N	\N	"" []	Orphanet:88630	"" []	78282	\N	\N	EFO	0	EFO	Terminal osseous dysplasia - pigmentary defects	Terminal osseous dysplasia - pigmentary defects
Orphanet:183466	Orphanet:88630	\N	"" []	Orphanet:88630	"" []	222953	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Terminal osseous dysplasia - pigmentary defects
Orphanet:93425	Orphanet:88630	\N	"" []	Orphanet:88630	"" []	222954	\N	\N	EFO	1	EFO	Filamin-related bone disorder	Terminal osseous dysplasia - pigmentary defects
Orphanet:93436	Orphanet:88630	\N	"" []	Orphanet:88630	"" []	222955	\N	\N	EFO	1	EFO	Acromelic dysplasia	Terminal osseous dysplasia - pigmentary defects
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:88630	"" []	579290	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Terminal osseous dysplasia - pigmentary defects
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:88630	"" []	579291	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Terminal osseous dysplasia - pigmentary defects
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:88630	"" []	579292	\N	\N	EFO	2	EFO	Primary bone dysplasia	Terminal osseous dysplasia - pigmentary defects
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:88630	"" []	1162956	\N	\N	EFO	3	EFO	Rare genetic skin disease	Terminal osseous dysplasia - pigmentary defects
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:88630	"" []	1162957	\N	\N	EFO	3	EFO	Rare genetic bone disease	Terminal osseous dysplasia - pigmentary defects
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:88630	"" []	1162958	\N	\N	EFO	3	EFO	Rare genetic bone disease	Terminal osseous dysplasia - pigmentary defects
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:88630	"" []	1162959	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Terminal osseous dysplasia - pigmentary defects
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88630	"" []	2046618	\N	\N	EFO	4	EFO	genetic disorder	Terminal osseous dysplasia - pigmentary defects
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:88630	"" []	2046619	\N	\N	EFO	4	EFO	skin disease	Terminal osseous dysplasia - pigmentary defects
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88630	"" []	2046620	\N	\N	EFO	4	EFO	genetic disorder	Terminal osseous dysplasia - pigmentary defects
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:88630	"" []	2046621	\N	\N	EFO	4	EFO	bone disease	Terminal osseous dysplasia - pigmentary defects
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:88630	"" []	2046622	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Terminal osseous dysplasia - pigmentary defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88630	"" []	4402272	\N	\N	EFO	6	EFO	disease	Terminal osseous dysplasia - pigmentary defects
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88630	"" []	3196667	\N	\N	EFO	5	EFO	disease	Terminal osseous dysplasia - pigmentary defects
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:88630	"" []	3196668	\N	\N	EFO	5	EFO	skeletal system disease	Terminal osseous dysplasia - pigmentary defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88630	"" []	3196669	\N	\N	EFO	5	EFO	genetic disorder	Terminal osseous dysplasia - pigmentary defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88630	"" []	5183481	\N	\N	EFO	7	EFO	disposition	Terminal osseous dysplasia - pigmentary defects
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88630	"" []	4402271	\N	\N	EFO	6	EFO	disease	Terminal osseous dysplasia - pigmentary defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88630	"" []	5998810	\N	\N	EFO	8	EFO	material property	Terminal osseous dysplasia - pigmentary defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88630	"" []	6551835	\N	\N	EFO	9	EFO	experimental factor	Terminal osseous dysplasia - pigmentary defects
Orphanet:88632	\N	\N	"Familial ocular anterior segment mesenchymal dysgenesis" []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	78283	\N	\N	EFO	0	EFO	Familial ocular anterior segment mesenchymal dysgenesis	Familial ocular anterior segment mesenchymal dysgenesis
Orphanet:108985	Orphanet:88632	\N	"" []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	222956	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Familial ocular anterior segment mesenchymal dysgenesis
Orphanet:98558	Orphanet:88632	\N	"" []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	222957	\N	\N	EFO	1	EFO	Rare eye disease due to a differentiation anomaly	Familial ocular anterior segment mesenchymal dysgenesis
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	579293	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Familial ocular anterior segment mesenchymal dysgenesis
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	579294	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Familial ocular anterior segment mesenchymal dysgenesis
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	1162960	\N	\N	EFO	3	EFO	Rare genetic eye disease	Familial ocular anterior segment mesenchymal dysgenesis
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	1162961	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Familial ocular anterior segment mesenchymal dysgenesis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	2046623	\N	\N	EFO	4	EFO	genetic disorder	Familial ocular anterior segment mesenchymal dysgenesis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	2046624	\N	\N	EFO	4	EFO	eye disease	Familial ocular anterior segment mesenchymal dysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	2046625	\N	\N	EFO	4	EFO	genetic disorder	Familial ocular anterior segment mesenchymal dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	3196670	\N	\N	EFO	5	EFO	disease	Familial ocular anterior segment mesenchymal dysgenesis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	3196671	\N	\N	EFO	5	EFO	disease	Familial ocular anterior segment mesenchymal dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	4402273	\N	\N	EFO	6	EFO	disposition	Familial ocular anterior segment mesenchymal dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	5418333	\N	\N	EFO	7	EFO	material property	Familial ocular anterior segment mesenchymal dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88632	"Familial ocular anterior segment mesenchymal dysgenesis" []	6152959	\N	\N	EFO	8	EFO	experimental factor	Familial ocular anterior segment mesenchymal dysgenesis
Orphanet:88635	\N	\N	"" []	Orphanet:88635	"" []	78284	\N	\N	EFO	0	EFO	Myopathy due to calsequestrin and SERCA1 protein overload	Myopathy due to calsequestrin and SERCA1 protein overload
Orphanet:206634	Orphanet:88635	\N	"" []	Orphanet:88635	"" []	222958	\N	\N	EFO	1	EFO	Genetic skeletal muscle disease	Myopathy due to calsequestrin and SERCA1 protein overload
Orphanet:209199	Orphanet:88635	\N	"" []	Orphanet:88635	"" []	222959	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein SERCA1	Myopathy due to calsequestrin and SERCA1 protein overload
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:88635	"" []	579295	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Myopathy due to calsequestrin and SERCA1 protein overload
Orphanet:207049	Orphanet:209199	\N	"" []	Orphanet:88635	"" []	579296	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Myopathy due to calsequestrin and SERCA1 protein overload
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:88635	"" []	2046628	\N	\N	EFO	4	EFO	muscular disease	Myopathy due to calsequestrin and SERCA1 protein overload
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:88635	"" []	2046629	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Myopathy due to calsequestrin and SERCA1 protein overload
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:88635	"" []	1162964	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Myopathy due to calsequestrin and SERCA1 protein overload
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:88635	"" []	3000468	\N	\N	EFO	5	EFO	skeletal system disease	Myopathy due to calsequestrin and SERCA1 protein overload
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88635	"" []	3000469	\N	\N	EFO	5	EFO	genetic disorder	Myopathy due to calsequestrin and SERCA1 protein overload
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88635	"" []	4134420	\N	\N	EFO	6	EFO	disease	Myopathy due to calsequestrin and SERCA1 protein overload
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88635	"" []	4134421	\N	\N	EFO	6	EFO	disease	Myopathy due to calsequestrin and SERCA1 protein overload
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88635	"" []	5183482	\N	\N	EFO	7	EFO	disposition	Myopathy due to calsequestrin and SERCA1 protein overload
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88635	"" []	5998811	\N	\N	EFO	8	EFO	material property	Myopathy due to calsequestrin and SERCA1 protein overload
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88635	"" []	6551836	\N	\N	EFO	9	EFO	experimental factor	Myopathy due to calsequestrin and SERCA1 protein overload
Orphanet:88637	\N	\N	"" []	Orphanet:88637	"" []	78285	\N	\N	EFO	0	EFO	Hypomyelination - hypogonadotropic hypogonadism - hypodontia	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:181387	Orphanet:88637	\N	"" []	Orphanet:88637	"" []	222960	\N	\N	EFO	1	EFO	Rare disorder with hypogonadotropic hypogonadism	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:289494	Orphanet:88637	\N	"" []	Orphanet:88637	"" []	222961	\N	\N	EFO	1	EFO	Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:88637	"" []	579297	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:68356	Orphanet:289494	\N	"" []	Orphanet:88637	"" []	579298	\N	\N	EFO	2	EFO	Leukodystrophy	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:88637	"" []	1162965	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:88637	"" []	1162966	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:88637	"" []	1162967	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:88637	"" []	1162968	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:88637	"" []	2046630	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:88637	"" []	2046631	\N	\N	EFO	4	EFO	Rare genetic male infertility	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:88637	"" []	2046632	\N	\N	EFO	4	EFO	Pituitary deficiency	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88637	"" []	2046633	\N	\N	EFO	4	EFO	genetic disorder	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88637	"" []	3196674	\N	\N	EFO	5	EFO	genetic disorder	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:88637	"" []	3196675	\N	\N	EFO	5	EFO	reproductive system disease	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:88637	"" []	3196676	\N	\N	EFO	5	EFO	Genetic infertility	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:88637	"" []	3196677	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88637	"" []	6152961	\N	\N	EFO	8	EFO	disease	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88637	"" []	5418336	\N	\N	EFO	7	EFO	disease	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88637	"" []	4402277	\N	\N	EFO	6	EFO	genetic disorder	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:88637	"" []	4402278	\N	\N	EFO	6	EFO	reproductive system disease	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:88637	"" []	4402279	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88637	"" []	6410385	\N	\N	EFO	9	EFO	disposition	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88637	"" []	5418337	\N	\N	EFO	7	EFO	genetic disorder	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:88637	"" []	5418338	\N	\N	EFO	7	EFO	endocrine system disease	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88637	"" []	6808193	\N	\N	EFO	10	EFO	material property	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88637	"" []	6152962	\N	\N	EFO	8	EFO	disease	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88637	"" []	7048817	\N	\N	EFO	11	EFO	experimental factor	Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Orphanet:88639	\N	\N	"" []	Orphanet:88639	"" []	78286	\N	\N	EFO	0	EFO	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Orphanet:68385	Orphanet:88639	\N	"" []	Orphanet:88639	"" []	222962	\N	\N	EFO	1	EFO	Neurometabolic disease	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Orphanet:79163	Orphanet:88639	\N	"" []	Orphanet:88639	"" []	222963	\N	\N	EFO	1	EFO	Classic organic aciduria	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:88639	"" []	579299	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:88639	"" []	579300	\N	\N	EFO	2	EFO	Organic aciduria	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88639	"" []	1162969	\N	\N	EFO	3	EFO	genetic disorder	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:88639	"" []	1162970	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88639	"" []	4402282	\N	\N	EFO	6	EFO	disease	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:88639	"" []	2046635	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88639	"" []	5060300	\N	\N	EFO	7	EFO	disposition	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88639	"" []	3196680	\N	\N	EFO	5	EFO	genetic disorder	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:88639	"" []	3196681	\N	\N	EFO	5	EFO	metabolic disease	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88639	"" []	5877792	\N	\N	EFO	8	EFO	material property	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88639	"" []	4402283	\N	\N	EFO	6	EFO	disease	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88639	"" []	6471013	\N	\N	EFO	9	EFO	experimental factor	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Orphanet:88642	\N	\N	"" []	Orphanet:88642	"" []	78287	\N	\N	EFO	0	EFO	Channelopathy-associated congenital insensitivity to pain	Channelopathy-associated congenital insensitivity to pain
Orphanet:140477	Orphanet:88642	\N	"" []	Orphanet:88642	"" []	222964	\N	\N	EFO	1	EFO	Autosomal recessive hereditary sensory and autonomic neuropathy	Channelopathy-associated congenital insensitivity to pain
Orphanet:140471	Orphanet:140477	\N	"" []	Orphanet:88642	"" []	579301	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Channelopathy-associated congenital insensitivity to pain
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:88642	"" []	1162971	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Channelopathy-associated congenital insensitivity to pain
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:88642	"" []	2046636	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Channelopathy-associated congenital insensitivity to pain
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88642	"" []	3196682	\N	\N	EFO	5	EFO	genetic disorder	Channelopathy-associated congenital insensitivity to pain
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88642	"" []	4402284	\N	\N	EFO	6	EFO	disease	Channelopathy-associated congenital insensitivity to pain
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88642	"" []	5418341	\N	\N	EFO	7	EFO	disposition	Channelopathy-associated congenital insensitivity to pain
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88642	"" []	6152964	\N	\N	EFO	8	EFO	material property	Channelopathy-associated congenital insensitivity to pain
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88642	"" []	6634233	\N	\N	EFO	9	EFO	experimental factor	Channelopathy-associated congenital insensitivity to pain
Orphanet:88643	\N	\N	"" []	Orphanet:88643	"" []	78288	\N	\N	EFO	0	EFO	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
Orphanet:177107	Orphanet:88643	\N	"" []	Orphanet:88643	"" []	222965	\N	\N	EFO	1	EFO	Syndromic hypothyroidism	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
Orphanet:226292	Orphanet:177107	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:88643	"" []	579302	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:88643	"" []	1162972	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:88643	"" []	2046637	\N	\N	EFO	4	EFO	Rare hypothyroidism	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:88643	"" []	3196683	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:88643	"" []	4402285	\N	\N	EFO	6	EFO	thyroid disease	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:88643	"" []	4402286	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:88643	"" []	5418342	\N	\N	EFO	7	EFO	endocrine system disease	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88643	"" []	5418343	\N	\N	EFO	7	EFO	genetic disorder	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:88643	"" []	5418344	\N	\N	EFO	7	EFO	endocrine system disease	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88643	"" []	6152965	\N	\N	EFO	8	EFO	disease	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88643	"" []	6152966	\N	\N	EFO	8	EFO	disease	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88643	"" []	6634234	\N	\N	EFO	9	EFO	disposition	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88643	"" []	6926277	\N	\N	EFO	10	EFO	material property	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88643	"" []	7099319	\N	\N	EFO	11	EFO	experimental factor	Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
Orphanet:88644	\N	\N	"" []	Orphanet:88644	"" []	78289	\N	\N	EFO	0	EFO	Autosomal recessive ataxia, Beauce type	Autosomal recessive ataxia, Beauce type
Orphanet:1172	Orphanet:88644	\N	"" []	Orphanet:88644	"" []	222966	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive ataxia, Beauce type
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:88644	"" []	579303	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal recessive ataxia, Beauce type
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:88644	"" []	579304	\N	\N	EFO	2	EFO	Early-onset ataxia with dementia	Autosomal recessive ataxia, Beauce type
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:88644	"" []	579305	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive ataxia, Beauce type
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:88644	"" []	1162973	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive ataxia, Beauce type
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:88644	"" []	1162974	\N	\N	EFO	3	EFO	Ataxia with dementia	Autosomal recessive ataxia, Beauce type
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:88644	"" []	1162975	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Autosomal recessive ataxia, Beauce type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88644	"" []	5418347	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive ataxia, Beauce type
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:88644	"" []	2046639	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive ataxia, Beauce type
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:88644	"" []	2046640	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive ataxia, Beauce type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88644	"" []	5817884	\N	\N	EFO	8	EFO	disease	Autosomal recessive ataxia, Beauce type
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:88644	"" []	3196685	\N	\N	EFO	5	EFO	Genetic dementia	Autosomal recessive ataxia, Beauce type
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:88644	"" []	3196686	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Autosomal recessive ataxia, Beauce type
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:88644	"" []	3196687	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive ataxia, Beauce type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88644	"" []	6410386	\N	\N	EFO	9	EFO	disposition	Autosomal recessive ataxia, Beauce type
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:88644	"" []	4402288	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive ataxia, Beauce type
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:88644	"" []	4402289	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive ataxia, Beauce type
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:88644	"" []	4402290	\N	\N	EFO	6	EFO	neurodegenerative disease	Autosomal recessive ataxia, Beauce type
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:88644	"" []	4402291	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive ataxia, Beauce type
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:88644	"" []	4402292	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive ataxia, Beauce type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88644	"" []	4402293	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive ataxia, Beauce type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:88644	"" []	4402294	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive ataxia, Beauce type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88644	"" []	6808194	\N	\N	EFO	10	EFO	material property	Autosomal recessive ataxia, Beauce type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:88644	"" []	5418346	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive ataxia, Beauce type
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:88644	"" []	5418348	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive ataxia, Beauce type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88644	"" []	5418350	\N	\N	EFO	7	EFO	disease	Autosomal recessive ataxia, Beauce type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88644	"" []	7048818	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive ataxia, Beauce type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88644	"" []	6152968	\N	\N	EFO	8	EFO	disease	Autosomal recessive ataxia, Beauce type
Orphanet:88659	\N	\N	"" []	Orphanet:88659	"" []	78290	\N	\N	EFO	0	EFO	Autosomal dominant progressive nephropathy with hypertension	Autosomal dominant progressive nephropathy with hypertension
Orphanet:156629	Orphanet:88659	\N	"" []	Orphanet:88659	"" []	222967	\N	\N	EFO	1	EFO	Genetic hypertension	Autosomal dominant progressive nephropathy with hypertension
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:88659	"" []	579306	\N	\N	EFO	2	EFO	Rare genetic renal disease	Autosomal dominant progressive nephropathy with hypertension
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88659	"" []	1162976	\N	\N	EFO	3	EFO	genetic disorder	Autosomal dominant progressive nephropathy with hypertension
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88659	"" []	2046641	\N	\N	EFO	4	EFO	disease	Autosomal dominant progressive nephropathy with hypertension
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88659	"" []	3196688	\N	\N	EFO	5	EFO	disposition	Autosomal dominant progressive nephropathy with hypertension
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88659	"" []	4402295	\N	\N	EFO	6	EFO	material property	Autosomal dominant progressive nephropathy with hypertension
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88659	"" []	5418351	\N	\N	EFO	7	EFO	experimental factor	Autosomal dominant progressive nephropathy with hypertension
Orphanet:88660	\N	\N	"" []	Orphanet:88660	"" []	78291	\N	\N	EFO	0	EFO	Pseudohyperaldosteronism type 2	Pseudohyperaldosteronism type 2
Orphanet:156629	Orphanet:88660	\N	"" []	Orphanet:88660	"" []	222968	\N	\N	EFO	1	EFO	Genetic hypertension	Pseudohyperaldosteronism type 2
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:88660	"" []	579307	\N	\N	EFO	2	EFO	Rare genetic renal disease	Pseudohyperaldosteronism type 2
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88660	"" []	1162977	\N	\N	EFO	3	EFO	genetic disorder	Pseudohyperaldosteronism type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88660	"" []	2046642	\N	\N	EFO	4	EFO	disease	Pseudohyperaldosteronism type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88660	"" []	3196689	\N	\N	EFO	5	EFO	disposition	Pseudohyperaldosteronism type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88660	"" []	4402296	\N	\N	EFO	6	EFO	material property	Pseudohyperaldosteronism type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88660	"" []	5418352	\N	\N	EFO	7	EFO	experimental factor	Pseudohyperaldosteronism type 2
Orphanet:88661	\N	\N	"" []	Orphanet:88661	"" []	78292	\N	\N	EFO	0	EFO	Amelogenesis imperfecta	Amelogenesis imperfecta
Orphanet:164001	Orphanet:88661	\N	"" []	Orphanet:88661	"" []	222969	\N	\N	EFO	1	EFO	Rare odontal or periodontal disorder	Amelogenesis imperfecta
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:88661	"" []	579308	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Amelogenesis imperfecta
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88661	"" []	1162978	\N	\N	EFO	3	EFO	genetic disorder	Amelogenesis imperfecta
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88661	"" []	2046643	\N	\N	EFO	4	EFO	disease	Amelogenesis imperfecta
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88661	"" []	3196690	\N	\N	EFO	5	EFO	disposition	Amelogenesis imperfecta
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88661	"" []	4402297	\N	\N	EFO	6	EFO	material property	Amelogenesis imperfecta
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88661	"" []	5418353	\N	\N	EFO	7	EFO	experimental factor	Amelogenesis imperfecta
Orphanet:887	\N	\N	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	78293	\N	\N	EFO	0	EFO	VACTERL/VATER association	VACTERL/VATER association
Orphanet:117573	Orphanet:887	\N	"" []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	222970	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	VACTERL/VATER association
Orphanet:93547	Orphanet:887	\N	"" []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	222971	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	VACTERL/VATER association
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	579309	\N	\N	EFO	2	EFO	Anorectal malformation	VACTERL/VATER association
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	579310	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	VACTERL/VATER association
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	1162979	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	VACTERL/VATER association
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	1162980	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	VACTERL/VATER association
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	1162981	\N	\N	EFO	3	EFO	Rare genetic renal disease	VACTERL/VATER association
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	2046644	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	VACTERL/VATER association
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	3196691	\N	\N	EFO	5	EFO	genetic disorder	VACTERL/VATER association
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	2046646	\N	\N	EFO	4	EFO	genetic disorder	VACTERL/VATER association
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	4134422	\N	\N	EFO	6	EFO	disease	VACTERL/VATER association
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	5183484	\N	\N	EFO	7	EFO	disposition	VACTERL/VATER association
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	5998813	\N	\N	EFO	8	EFO	material property	VACTERL/VATER association
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:887	"VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." []	6551838	\N	\N	EFO	9	EFO	experimental factor	VACTERL/VATER association
Orphanet:888	\N	\N	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	78294	\N	\N	EFO	0	EFO	Van der Woude syndrome	Van der Woude syndrome
Orphanet:156237	Orphanet:888	\N	"" []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	222972	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Van der Woude syndrome
Orphanet:330206	Orphanet:888	\N	"" []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	222973	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Van der Woude syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	579311	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Van der Woude syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	579312	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Van der Woude syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	1162982	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Van der Woude syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	1162983	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Van der Woude syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	2046647	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Van der Woude syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	3196693	\N	\N	EFO	5	EFO	genetic disorder	Van der Woude syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	4134423	\N	\N	EFO	6	EFO	disease	Van der Woude syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	5183485	\N	\N	EFO	7	EFO	disposition	Van der Woude syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	5998814	\N	\N	EFO	8	EFO	material property	Van der Woude syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:888	"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." []	6551839	\N	\N	EFO	9	EFO	experimental factor	Van der Woude syndrome
Orphanet:88917	\N	\N	"" []	Orphanet:88917	"" []	78295	\N	\N	EFO	0	EFO	X-linked Alport syndrome	X-linked Alport syndrome
Orphanet:63	Orphanet:88917	\N	"" []	Orphanet:88917	"" []	222974	\N	\N	EFO	1	EFO	Alport syndrome	X-linked Alport syndrome
Orphanet:90642	Orphanet:63	\N	"" []	Orphanet:88917	"" []	579313	\N	\N	EFO	2	EFO	Syndromic genetic deafness	X-linked Alport syndrome
Orphanet:93550	Orphanet:63	\N	"" []	Orphanet:88917	"" []	579314	\N	\N	EFO	2	EFO	Basement membrane disease	X-linked Alport syndrome
Orphanet:98646	Orphanet:63	\N	"" []	Orphanet:88917	"" []	579315	\N	\N	EFO	2	EFO	Renal disease with cataract	X-linked Alport syndrome
Orphanet:98655	Orphanet:63	\N	"" []	Orphanet:88917	"" []	579316	\N	\N	EFO	2	EFO	Lens shape anomaly	X-linked Alport syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:88917	"" []	1162984	\N	\N	EFO	3	EFO	Rare genetic deafness	X-linked Alport syndrome
Orphanet:183586	Orphanet:93550	\N	"" []	Orphanet:88917	"" []	1162985	\N	\N	EFO	3	EFO	Genetic glomerular disease	X-linked Alport syndrome
Orphanet:98643	Orphanet:98646	\N	"" []	Orphanet:88917	"" []	1162986	\N	\N	EFO	3	EFO	Systemic disease with cataract	X-linked Alport syndrome
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:88917	"" []	1162987	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	X-linked Alport syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88917	"" []	2046649	\N	\N	EFO	4	EFO	genetic disorder	X-linked Alport syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:88917	"" []	2046650	\N	\N	EFO	4	EFO	auditory system disease	X-linked Alport syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:88917	"" []	2046651	\N	\N	EFO	4	EFO	Rare genetic renal disease	X-linked Alport syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:88917	"" []	2046652	\N	\N	EFO	4	EFO	Syndromic cataract	X-linked Alport syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:88917	"" []	5418358	\N	\N	EFO	7	EFO	Rare genetic eye disease	X-linked Alport syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88917	"" []	6410387	\N	\N	EFO	9	EFO	disease	X-linked Alport syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:88917	"" []	3196696	\N	\N	EFO	5	EFO	sensory system disease	X-linked Alport syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88917	"" []	3196697	\N	\N	EFO	5	EFO	genetic disorder	X-linked Alport syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:88917	"" []	3196698	\N	\N	EFO	5	EFO	Rare cataract	X-linked Alport syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88917	"" []	5817885	\N	\N	EFO	8	EFO	genetic disorder	X-linked Alport syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:88917	"" []	5817886	\N	\N	EFO	8	EFO	eye disease	X-linked Alport syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88917	"" []	6778839	\N	\N	EFO	10	EFO	disposition	X-linked Alport syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:88917	"" []	4402301	\N	\N	EFO	6	EFO	nervous system disease	X-linked Alport syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:88917	"" []	4402303	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	X-linked Alport syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88917	"" []	6410388	\N	\N	EFO	9	EFO	disease	X-linked Alport syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88917	"" []	7030026	\N	\N	EFO	11	EFO	material property	X-linked Alport syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88917	"" []	5418357	\N	\N	EFO	7	EFO	disease	X-linked Alport syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88917	"" []	7181826	\N	\N	EFO	12	EFO	experimental factor	X-linked Alport syndrome
Orphanet:88918	\N	\N	"" []	Orphanet:88918	"" []	78296	\N	\N	EFO	0	EFO	Autosomal dominant Alport syndrome	Autosomal dominant Alport syndrome
Orphanet:63	Orphanet:88918	\N	"" []	Orphanet:88918	"" []	222975	\N	\N	EFO	1	EFO	Alport syndrome	Autosomal dominant Alport syndrome
Orphanet:90642	Orphanet:63	\N	"" []	Orphanet:88918	"" []	579317	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Autosomal dominant Alport syndrome
Orphanet:93550	Orphanet:63	\N	"" []	Orphanet:88918	"" []	579318	\N	\N	EFO	2	EFO	Basement membrane disease	Autosomal dominant Alport syndrome
Orphanet:98646	Orphanet:63	\N	"" []	Orphanet:88918	"" []	579319	\N	\N	EFO	2	EFO	Renal disease with cataract	Autosomal dominant Alport syndrome
Orphanet:98655	Orphanet:63	\N	"" []	Orphanet:88918	"" []	579320	\N	\N	EFO	2	EFO	Lens shape anomaly	Autosomal dominant Alport syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:88918	"" []	1162988	\N	\N	EFO	3	EFO	Rare genetic deafness	Autosomal dominant Alport syndrome
Orphanet:183586	Orphanet:93550	\N	"" []	Orphanet:88918	"" []	1162989	\N	\N	EFO	3	EFO	Genetic glomerular disease	Autosomal dominant Alport syndrome
Orphanet:98643	Orphanet:98646	\N	"" []	Orphanet:88918	"" []	1162990	\N	\N	EFO	3	EFO	Systemic disease with cataract	Autosomal dominant Alport syndrome
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:88918	"" []	1162991	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Autosomal dominant Alport syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88918	"" []	2046654	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant Alport syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:88918	"" []	2046655	\N	\N	EFO	4	EFO	auditory system disease	Autosomal dominant Alport syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:88918	"" []	2046656	\N	\N	EFO	4	EFO	Rare genetic renal disease	Autosomal dominant Alport syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:88918	"" []	2046657	\N	\N	EFO	4	EFO	Syndromic cataract	Autosomal dominant Alport syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:88918	"" []	5418361	\N	\N	EFO	7	EFO	Rare genetic eye disease	Autosomal dominant Alport syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88918	"" []	6410389	\N	\N	EFO	9	EFO	disease	Autosomal dominant Alport syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:88918	"" []	3196702	\N	\N	EFO	5	EFO	sensory system disease	Autosomal dominant Alport syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88918	"" []	3196703	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant Alport syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:88918	"" []	3196704	\N	\N	EFO	5	EFO	Rare cataract	Autosomal dominant Alport syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88918	"" []	5817887	\N	\N	EFO	8	EFO	genetic disorder	Autosomal dominant Alport syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:88918	"" []	5817888	\N	\N	EFO	8	EFO	eye disease	Autosomal dominant Alport syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88918	"" []	6778840	\N	\N	EFO	10	EFO	disposition	Autosomal dominant Alport syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:88918	"" []	4402306	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Alport syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:88918	"" []	4402308	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Autosomal dominant Alport syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88918	"" []	6410390	\N	\N	EFO	9	EFO	disease	Autosomal dominant Alport syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88918	"" []	7030027	\N	\N	EFO	11	EFO	material property	Autosomal dominant Alport syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88918	"" []	5418360	\N	\N	EFO	7	EFO	disease	Autosomal dominant Alport syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88918	"" []	7181827	\N	\N	EFO	12	EFO	experimental factor	Autosomal dominant Alport syndrome
Orphanet:88919	\N	\N	"" []	Orphanet:88919	"" []	78297	\N	\N	EFO	0	EFO	Autosomal recessive Alport syndrome	Autosomal recessive Alport syndrome
Orphanet:63	Orphanet:88919	\N	"" []	Orphanet:88919	"" []	222976	\N	\N	EFO	1	EFO	Alport syndrome	Autosomal recessive Alport syndrome
Orphanet:90642	Orphanet:63	\N	"" []	Orphanet:88919	"" []	579321	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Autosomal recessive Alport syndrome
Orphanet:93550	Orphanet:63	\N	"" []	Orphanet:88919	"" []	579322	\N	\N	EFO	2	EFO	Basement membrane disease	Autosomal recessive Alport syndrome
Orphanet:98646	Orphanet:63	\N	"" []	Orphanet:88919	"" []	579323	\N	\N	EFO	2	EFO	Renal disease with cataract	Autosomal recessive Alport syndrome
Orphanet:98655	Orphanet:63	\N	"" []	Orphanet:88919	"" []	579324	\N	\N	EFO	2	EFO	Lens shape anomaly	Autosomal recessive Alport syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:88919	"" []	1162992	\N	\N	EFO	3	EFO	Rare genetic deafness	Autosomal recessive Alport syndrome
Orphanet:183586	Orphanet:93550	\N	"" []	Orphanet:88919	"" []	1162993	\N	\N	EFO	3	EFO	Genetic glomerular disease	Autosomal recessive Alport syndrome
Orphanet:98643	Orphanet:98646	\N	"" []	Orphanet:88919	"" []	1162994	\N	\N	EFO	3	EFO	Systemic disease with cataract	Autosomal recessive Alport syndrome
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:88919	"" []	1162995	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Autosomal recessive Alport syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88919	"" []	2046659	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive Alport syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:88919	"" []	2046660	\N	\N	EFO	4	EFO	auditory system disease	Autosomal recessive Alport syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:88919	"" []	2046661	\N	\N	EFO	4	EFO	Rare genetic renal disease	Autosomal recessive Alport syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:88919	"" []	2046662	\N	\N	EFO	4	EFO	Syndromic cataract	Autosomal recessive Alport syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:88919	"" []	5418364	\N	\N	EFO	7	EFO	Rare genetic eye disease	Autosomal recessive Alport syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88919	"" []	6410391	\N	\N	EFO	9	EFO	disease	Autosomal recessive Alport syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:88919	"" []	3196708	\N	\N	EFO	5	EFO	sensory system disease	Autosomal recessive Alport syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88919	"" []	3196709	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive Alport syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:88919	"" []	3196710	\N	\N	EFO	5	EFO	Rare cataract	Autosomal recessive Alport syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88919	"" []	5817889	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive Alport syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:88919	"" []	5817890	\N	\N	EFO	8	EFO	eye disease	Autosomal recessive Alport syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88919	"" []	6778841	\N	\N	EFO	10	EFO	disposition	Autosomal recessive Alport syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:88919	"" []	4402311	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive Alport syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:88919	"" []	4402313	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Autosomal recessive Alport syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88919	"" []	6410392	\N	\N	EFO	9	EFO	disease	Autosomal recessive Alport syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88919	"" []	7030028	\N	\N	EFO	11	EFO	material property	Autosomal recessive Alport syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88919	"" []	5418363	\N	\N	EFO	7	EFO	disease	Autosomal recessive Alport syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88919	"" []	7181828	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive Alport syndrome
Orphanet:88924	\N	\N	"" []	Orphanet:88924	"" []	78298	\N	\N	EFO	0	EFO	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
EFO:1001496	Orphanet:88924	\N	"Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys." []	Orphanet:88924	"" []	222977	\N	\N	EFO	1	EFO	Autosomal dominant polycystic kidney disease	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Orphanet:261956	Orphanet:88924	\N	"" []	Orphanet:88924	"" []	222978	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 16	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Orphanet:93587	EFO:1001496	\N	"" []	Orphanet:88924	"" []	579325	\N	\N	EFO	2	EFO	Familial cystic renal disease	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Orphanet:261826	Orphanet:261956	\N	"" []	Orphanet:88924	"" []	579326	\N	\N	EFO	2	EFO	Partial deletion of chromosome 16	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:88924	"" []	1162996	\N	\N	EFO	3	EFO	kidney disease	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:88924	"" []	1162997	\N	\N	EFO	3	EFO	Rare genetic renal disease	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:88924	"" []	1162998	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88924	"" []	2046664	\N	\N	EFO	4	EFO	disease	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88924	"" []	2046665	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:88924	"" []	2046666	\N	\N	EFO	4	EFO	Autosomal monosomy	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88924	"" []	6410393	\N	\N	EFO	9	EFO	disposition	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88924	"" []	6152977	\N	\N	EFO	8	EFO	disease	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:88924	"" []	3196715	\N	\N	EFO	5	EFO	Autosomal anomaly	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88924	"" []	6778842	\N	\N	EFO	10	EFO	material property	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:88924	"" []	4402317	\N	\N	EFO	6	EFO	Chromosomal anomaly	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88924	"" []	7030029	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88924	"" []	5418366	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Orphanet:88938	\N	\N	"" []	Orphanet:88938	"" []	78299	\N	\N	EFO	0	EFO	Pseudohypoaldosteronism type 2A	Pseudohypoaldosteronism type 2A
Orphanet:757	Orphanet:88938	\N	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	Orphanet:88938	"" []	222979	\N	\N	EFO	1	EFO	Pseudohypoaldosteronism type 2	Pseudohypoaldosteronism type 2A
Orphanet:156629	Orphanet:757	\N	"" []	Orphanet:88938	"" []	579327	\N	\N	EFO	2	EFO	Genetic hypertension	Pseudohypoaldosteronism type 2A
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:88938	"" []	1162999	\N	\N	EFO	3	EFO	Rare genetic renal disease	Pseudohypoaldosteronism type 2A
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88938	"" []	2046667	\N	\N	EFO	4	EFO	genetic disorder	Pseudohypoaldosteronism type 2A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88938	"" []	3196716	\N	\N	EFO	5	EFO	disease	Pseudohypoaldosteronism type 2A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88938	"" []	4402318	\N	\N	EFO	6	EFO	disposition	Pseudohypoaldosteronism type 2A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88938	"" []	5418367	\N	\N	EFO	7	EFO	material property	Pseudohypoaldosteronism type 2A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88938	"" []	6152978	\N	\N	EFO	8	EFO	experimental factor	Pseudohypoaldosteronism type 2A
Orphanet:88939	\N	\N	"" []	Orphanet:88939	"" []	78300	\N	\N	EFO	0	EFO	Pseudohypoaldosteronism type 2B	Pseudohypoaldosteronism type 2B
Orphanet:757	Orphanet:88939	\N	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	Orphanet:88939	"" []	222980	\N	\N	EFO	1	EFO	Pseudohypoaldosteronism type 2	Pseudohypoaldosteronism type 2B
Orphanet:156629	Orphanet:757	\N	"" []	Orphanet:88939	"" []	579328	\N	\N	EFO	2	EFO	Genetic hypertension	Pseudohypoaldosteronism type 2B
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:88939	"" []	1163000	\N	\N	EFO	3	EFO	Rare genetic renal disease	Pseudohypoaldosteronism type 2B
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88939	"" []	2046668	\N	\N	EFO	4	EFO	genetic disorder	Pseudohypoaldosteronism type 2B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88939	"" []	3196717	\N	\N	EFO	5	EFO	disease	Pseudohypoaldosteronism type 2B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88939	"" []	4402319	\N	\N	EFO	6	EFO	disposition	Pseudohypoaldosteronism type 2B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88939	"" []	5418368	\N	\N	EFO	7	EFO	material property	Pseudohypoaldosteronism type 2B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88939	"" []	6152979	\N	\N	EFO	8	EFO	experimental factor	Pseudohypoaldosteronism type 2B
Orphanet:88940	\N	\N	"" []	Orphanet:88940	"" []	78301	\N	\N	EFO	0	EFO	Pseudohypoaldosteronism type 2C	Pseudohypoaldosteronism type 2C
Orphanet:757	Orphanet:88940	\N	"Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." []	Orphanet:88940	"" []	222981	\N	\N	EFO	1	EFO	Pseudohypoaldosteronism type 2	Pseudohypoaldosteronism type 2C
Orphanet:156629	Orphanet:757	\N	"" []	Orphanet:88940	"" []	579329	\N	\N	EFO	2	EFO	Genetic hypertension	Pseudohypoaldosteronism type 2C
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:88940	"" []	1163001	\N	\N	EFO	3	EFO	Rare genetic renal disease	Pseudohypoaldosteronism type 2C
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88940	"" []	2046669	\N	\N	EFO	4	EFO	genetic disorder	Pseudohypoaldosteronism type 2C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88940	"" []	3196718	\N	\N	EFO	5	EFO	disease	Pseudohypoaldosteronism type 2C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88940	"" []	4402320	\N	\N	EFO	6	EFO	disposition	Pseudohypoaldosteronism type 2C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88940	"" []	5418369	\N	\N	EFO	7	EFO	material property	Pseudohypoaldosteronism type 2C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88940	"" []	6152980	\N	\N	EFO	8	EFO	experimental factor	Pseudohypoaldosteronism type 2C
Orphanet:88949	\N	\N	"" []	Orphanet:88949	"" []	78302	\N	\N	EFO	0	EFO	Autosomal dominant medullary cystic kidney disease without hyperuricemia	Autosomal dominant medullary cystic kidney disease without hyperuricemia
Orphanet:34149	Orphanet:88949	\N	"" []	Orphanet:88949	"" []	222982	\N	\N	EFO	1	EFO	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	Autosomal dominant medullary cystic kidney disease without hyperuricemia
Orphanet:93587	Orphanet:34149	\N	"" []	Orphanet:88949	"" []	579330	\N	\N	EFO	2	EFO	Familial cystic renal disease	Autosomal dominant medullary cystic kidney disease without hyperuricemia
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:88949	"" []	1163002	\N	\N	EFO	3	EFO	kidney disease	Autosomal dominant medullary cystic kidney disease without hyperuricemia
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:88949	"" []	1163003	\N	\N	EFO	3	EFO	Rare genetic renal disease	Autosomal dominant medullary cystic kidney disease without hyperuricemia
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88949	"" []	2046670	\N	\N	EFO	4	EFO	disease	Autosomal dominant medullary cystic kidney disease without hyperuricemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88949	"" []	2046671	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant medullary cystic kidney disease without hyperuricemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88949	"" []	4402322	\N	\N	EFO	6	EFO	disposition	Autosomal dominant medullary cystic kidney disease without hyperuricemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88949	"" []	3196720	\N	\N	EFO	5	EFO	disease	Autosomal dominant medullary cystic kidney disease without hyperuricemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88949	"" []	5183490	\N	\N	EFO	7	EFO	material property	Autosomal dominant medullary cystic kidney disease without hyperuricemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88949	"" []	5998819	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant medullary cystic kidney disease without hyperuricemia
Orphanet:88950	\N	\N	"" []	Orphanet:88950	"" []	78303	\N	\N	EFO	0	EFO	Autosomal dominant medullary cystic kidney disease with hyperuricemia	Autosomal dominant medullary cystic kidney disease with hyperuricemia
Orphanet:34149	Orphanet:88950	\N	"" []	Orphanet:88950	"" []	222983	\N	\N	EFO	1	EFO	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	Autosomal dominant medullary cystic kidney disease with hyperuricemia
Orphanet:93587	Orphanet:34149	\N	"" []	Orphanet:88950	"" []	579331	\N	\N	EFO	2	EFO	Familial cystic renal disease	Autosomal dominant medullary cystic kidney disease with hyperuricemia
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:88950	"" []	1163004	\N	\N	EFO	3	EFO	kidney disease	Autosomal dominant medullary cystic kidney disease with hyperuricemia
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:88950	"" []	1163005	\N	\N	EFO	3	EFO	Rare genetic renal disease	Autosomal dominant medullary cystic kidney disease with hyperuricemia
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88950	"" []	2046672	\N	\N	EFO	4	EFO	disease	Autosomal dominant medullary cystic kidney disease with hyperuricemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88950	"" []	2046673	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant medullary cystic kidney disease with hyperuricemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88950	"" []	4402324	\N	\N	EFO	6	EFO	disposition	Autosomal dominant medullary cystic kidney disease with hyperuricemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88950	"" []	3196722	\N	\N	EFO	5	EFO	disease	Autosomal dominant medullary cystic kidney disease with hyperuricemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88950	"" []	5183491	\N	\N	EFO	7	EFO	material property	Autosomal dominant medullary cystic kidney disease with hyperuricemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88950	"" []	5998820	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant medullary cystic kidney disease with hyperuricemia
Orphanet:88993	\N	\N	"" []	Orphanet:88993	"" []	78304	\N	\N	EFO	0	EFO	Esophageal malformation	Esophageal malformation
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:88993	"" []	222984	\N	\N	EFO	1	EFO	Genetic digestive tract malformation	Esophageal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:88993	"" []	579332	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Esophageal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:88993	"" []	1163006	\N	\N	EFO	3	EFO	genetic disorder	Esophageal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:88993	"" []	2046674	\N	\N	EFO	4	EFO	disease	Esophageal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:88993	"" []	3196723	\N	\N	EFO	5	EFO	disposition	Esophageal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:88993	"" []	4402325	\N	\N	EFO	6	EFO	material property	Esophageal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:88993	"" []	5418372	\N	\N	EFO	7	EFO	experimental factor	Esophageal malformation
Orphanet:891	\N	\N	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	78305	\N	\N	EFO	0	EFO	Familial exudative vitreoretinopathy	Familial exudative vitreoretinopathy
Orphanet:183503	Orphanet:891	\N	"" []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	222985	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Familial exudative vitreoretinopathy
Orphanet:98670	Orphanet:891	\N	"" []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	222986	\N	\N	EFO	1	EFO	Vitreoretinal degeneration	Familial exudative vitreoretinopathy
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	579333	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Familial exudative vitreoretinopathy
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	579334	\N	\N	EFO	2	EFO	Vitreoretinopathy	Familial exudative vitreoretinopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	1163007	\N	\N	EFO	3	EFO	genetic disorder	Familial exudative vitreoretinopathy
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	1163008	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Familial exudative vitreoretinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	4402327	\N	\N	EFO	6	EFO	disease	Familial exudative vitreoretinopathy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	2046676	\N	\N	EFO	4	EFO	Rare genetic eye disease	Familial exudative vitreoretinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	5060301	\N	\N	EFO	7	EFO	disposition	Familial exudative vitreoretinopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	3196725	\N	\N	EFO	5	EFO	genetic disorder	Familial exudative vitreoretinopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	3196726	\N	\N	EFO	5	EFO	eye disease	Familial exudative vitreoretinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	5877794	\N	\N	EFO	8	EFO	material property	Familial exudative vitreoretinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	4402328	\N	\N	EFO	6	EFO	disease	Familial exudative vitreoretinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:891	"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." []	6471018	\N	\N	EFO	9	EFO	experimental factor	Familial exudative vitreoretinopathy
Orphanet:892	\N	\N	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	78306	\N	\N	EFO	0	EFO	Von Hippel-Lindau disease	Von Hippel-Lindau disease
EFO:0003865	Orphanet:892	\N	"Tumors or cancers of the KIDNEY." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	222987	\N	\N	EFO	1	EFO	kidney neoplasm	Von Hippel-Lindau disease
Orphanet:100094	Orphanet:892	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	222988	\N	\N	EFO	1	EFO	Multiple polyglandular tumor	Von Hippel-Lindau disease
Orphanet:108987	Orphanet:892	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	222989	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Von Hippel-Lindau disease
Orphanet:183503	Orphanet:892	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	222990	\N	\N	EFO	1	EFO	Genetic central nervous system and retinal vascular disease	Von Hippel-Lindau disease
Orphanet:319328	Orphanet:892	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	222991	\N	\N	EFO	1	EFO	Inherited renal cancer-predisposing syndrome	Von Hippel-Lindau disease
Orphanet:93587	Orphanet:892	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	222992	\N	\N	EFO	1	EFO	Familial cystic renal disease	Von Hippel-Lindau disease
Orphanet:98196	Orphanet:892	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	222993	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Von Hippel-Lindau disease
Orphanet:98638	Orphanet:892	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	222994	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Von Hippel-Lindau disease
EFO:0003086	EFO:0003865	\N	"A disease affecting the kidneys" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	579335	\N	\N	EFO	2	EFO	kidney disease	Von Hippel-Lindau disease
EFO:0003863	EFO:0003865	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	579336	\N	\N	EFO	2	EFO	urogenital neoplasm	Von Hippel-Lindau disease
Orphanet:183643	Orphanet:100094	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	579337	\N	\N	EFO	2	EFO	Genetic polyendocrinopathy	Von Hippel-Lindau disease
Orphanet:271847	Orphanet:100094	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	579338	\N	\N	EFO	2	EFO	Genetic endocrine tumor	Von Hippel-Lindau disease
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	579339	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Von Hippel-Lindau disease
Orphanet:71859	Orphanet:183503	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	579340	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Von Hippel-Lindau disease
Orphanet:140162	Orphanet:319328	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	579341	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Von Hippel-Lindau disease
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	579342	\N	\N	EFO	2	EFO	kidney disease	Von Hippel-Lindau disease
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	579343	\N	\N	EFO	2	EFO	Rare genetic renal disease	Von Hippel-Lindau disease
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	579344	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Von Hippel-Lindau disease
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	579345	\N	\N	EFO	2	EFO	Rare genetic eye disease	Von Hippel-Lindau disease
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	1163009	\N	\N	EFO	3	EFO	disease	Von Hippel-Lindau disease
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	1163010	\N	\N	EFO	3	EFO	neoplasm	Von Hippel-Lindau disease
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	1163011	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Von Hippel-Lindau disease
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	1163012	\N	\N	EFO	3	EFO	endocrine neoplasm	Von Hippel-Lindau disease
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	1163013	\N	\N	EFO	3	EFO	Rare genetic tumor	Von Hippel-Lindau disease
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	1163014	\N	\N	EFO	3	EFO	Rare genetic eye disease	Von Hippel-Lindau disease
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	1163015	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Von Hippel-Lindau disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	1163016	\N	\N	EFO	3	EFO	genetic disorder	Von Hippel-Lindau disease
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	1163017	\N	\N	EFO	3	EFO	genetic disorder	Von Hippel-Lindau disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	1163018	\N	\N	EFO	3	EFO	genetic disorder	Von Hippel-Lindau disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	2046687	\N	\N	EFO	4	EFO	genetic disorder	Von Hippel-Lindau disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	2046685	\N	\N	EFO	4	EFO	genetic disorder	Von Hippel-Lindau disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	2046686	\N	\N	EFO	4	EFO	eye disease	Von Hippel-Lindau disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	4134425	\N	\N	EFO	6	EFO	disposition	Von Hippel-Lindau disease
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	3196730	\N	\N	EFO	5	EFO	disease	Von Hippel-Lindau disease
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	2046679	\N	\N	EFO	4	EFO	genetic disorder	Von Hippel-Lindau disease
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	2046680	\N	\N	EFO	4	EFO	endocrine system disease	Von Hippel-Lindau disease
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	2046681	\N	\N	EFO	4	EFO	neoplasm	Von Hippel-Lindau disease
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	2046682	\N	\N	EFO	4	EFO	endocrine system disease	Von Hippel-Lindau disease
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	2046683	\N	\N	EFO	4	EFO	genetic disorder	Von Hippel-Lindau disease
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	2046684	\N	\N	EFO	4	EFO	neoplasm	Von Hippel-Lindau disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	3000470	\N	\N	EFO	5	EFO	disease	Von Hippel-Lindau disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	3000471	\N	\N	EFO	5	EFO	disease	Von Hippel-Lindau disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	5060302	\N	\N	EFO	7	EFO	material property	Von Hippel-Lindau disease
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	3196729	\N	\N	EFO	5	EFO	disease	Von Hippel-Lindau disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:892	"Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." []	5877795	\N	\N	EFO	8	EFO	experimental factor	Von Hippel-Lindau disease
Orphanet:893	\N	\N	"" []	Orphanet:893	"" []	78307	\N	\N	EFO	0	EFO	WAGR syndrome	WAGR syndrome
EFO:0003769	Orphanet:893	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:893	"" []	222995	\N	\N	EFO	1	EFO	endocrine neoplasm	WAGR syndrome
EFO:0003824	Orphanet:893	\N	"Tumors or cancer of the EYE." []	Orphanet:893	"" []	222996	\N	\N	EFO	1	EFO	eye neoplasm	WAGR syndrome
Orphanet:108987	Orphanet:893	\N	"" []	Orphanet:893	"" []	222997	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	WAGR syndrome
Orphanet:183422	Orphanet:893	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:893	"" []	222998	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	WAGR syndrome
Orphanet:183595	Orphanet:893	\N	"" []	Orphanet:893	"" []	222999	\N	\N	EFO	1	EFO	Genetic renal tumor	WAGR syndrome
Orphanet:240371	Orphanet:893	\N	"" []	Orphanet:893	"" []	223000	\N	\N	EFO	1	EFO	Syndromic obesity	WAGR syndrome
Orphanet:261947	Orphanet:893	\N	"" []	Orphanet:893	"" []	223001	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 11	WAGR syndrome
Orphanet:325638	Orphanet:893	\N	"" []	Orphanet:893	"" []	223002	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	WAGR syndrome
Orphanet:93547	Orphanet:893	\N	"" []	Orphanet:893	"" []	223003	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	WAGR syndrome
Orphanet:98087	Orphanet:893	\N	"" []	Orphanet:893	"" []	223004	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	WAGR syndrome
Orphanet:98557	Orphanet:893	\N	"" []	Orphanet:893	"" []	223005	\N	\N	EFO	1	EFO	Syndromic aniridia	WAGR syndrome
Orphanet:98638	Orphanet:893	\N	"" []	Orphanet:893	"" []	223006	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	WAGR syndrome
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:893	"" []	579346	\N	\N	EFO	2	EFO	neoplasm	WAGR syndrome
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:893	"" []	579347	\N	\N	EFO	2	EFO	endocrine system disease	WAGR syndrome
EFO:0000616	EFO:0003824	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:893	"" []	579348	\N	\N	EFO	2	EFO	neoplasm	WAGR syndrome
EFO:0003966	EFO:0003824	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:893	"" []	579349	\N	\N	EFO	2	EFO	eye disease	WAGR syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:893	"" []	579350	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	WAGR syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:893	"" []	579351	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	WAGR syndrome
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:893	"" []	579352	\N	\N	EFO	2	EFO	urogenital neoplasm	WAGR syndrome
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:893	"" []	579353	\N	\N	EFO	2	EFO	Rare genetic tumor	WAGR syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:893	"" []	579354	\N	\N	EFO	2	EFO	Genetic obesity	WAGR syndrome
Orphanet:261816	Orphanet:261947	\N	"" []	Orphanet:893	"" []	579355	\N	\N	EFO	2	EFO	Partial deletion of chromosome 11	WAGR syndrome
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:893	"" []	579356	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	WAGR syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:893	"" []	579357	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	WAGR syndrome
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:893	"" []	579358	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	WAGR syndrome
Orphanet:77	Orphanet:98557	\N	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	Orphanet:893	"" []	579359	\N	\N	EFO	2	EFO	Aniridia	WAGR syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:893	"" []	579360	\N	\N	EFO	2	EFO	Rare genetic eye disease	WAGR syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:893	"" []	2046695	\N	\N	EFO	4	EFO	disease	WAGR syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:893	"" []	4134428	\N	\N	EFO	6	EFO	disease	WAGR syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:893	"" []	7007015	\N	\N	EFO	11	EFO	disease	WAGR syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:893	"" []	6634235	\N	\N	EFO	9	EFO	Rare genetic eye disease	WAGR syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:893	"" []	6634236	\N	\N	EFO	9	EFO	Rare genetic developmental defect during embryogenesis	WAGR syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:893	"" []	1163027	\N	\N	EFO	3	EFO	genetic disorder	WAGR syndrome
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:893	"" []	1163028	\N	\N	EFO	3	EFO	neoplasm	WAGR syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:893	"" []	1163029	\N	\N	EFO	3	EFO	genetic disorder	WAGR syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:893	"" []	1163030	\N	\N	EFO	3	EFO	neoplasm	WAGR syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:893	"" []	1163031	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	WAGR syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:893	"" []	1163032	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	WAGR syndrome
Orphanet:98142	Orphanet:261816	\N	"" []	Orphanet:893	"" []	1163033	\N	\N	EFO	3	EFO	Partial autosomal monosomy	WAGR syndrome
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:893	"" []	1163034	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	WAGR syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:893	"" []	1163035	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	WAGR syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:893	"" []	1163036	\N	\N	EFO	3	EFO	Rare genetic renal disease	WAGR syndrome
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:893	"" []	1163037	\N	\N	EFO	3	EFO	Genetic disorder of sex development	WAGR syndrome
Orphanet:98554	Orphanet:77	\N	"" []	Orphanet:893	"" []	1163038	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	WAGR syndrome
Orphanet:98634	Orphanet:77	\N	"" []	Orphanet:893	"" []	1163039	\N	\N	EFO	3	EFO	Iridogoniodysgenesis	WAGR syndrome
Orphanet:98641	Orphanet:77	\N	"" []	Orphanet:893	"" []	1163040	\N	\N	EFO	3	EFO	Syndromic cataract	WAGR syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:893	"" []	6758576	\N	\N	EFO	10	EFO	genetic disorder	WAGR syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:893	"" []	6758577	\N	\N	EFO	10	EFO	eye disease	WAGR syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:893	"" []	7163821	\N	\N	EFO	12	EFO	disposition	WAGR syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:893	"" []	6758578	\N	\N	EFO	10	EFO	genetic disorder	WAGR syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:893	"" []	7007014	\N	\N	EFO	11	EFO	disease	WAGR syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:893	"" []	3196737	\N	\N	EFO	5	EFO	genetic disorder	WAGR syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:893	"" []	3196738	\N	\N	EFO	5	EFO	endocrine system disease	WAGR syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:893	"" []	2046698	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	WAGR syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:893	"" []	2046699	\N	\N	EFO	4	EFO	Autosomal monosomy	WAGR syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:893	"" []	2046700	\N	\N	EFO	4	EFO	genetic disorder	WAGR syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:893	"" []	2046701	\N	\N	EFO	4	EFO	reproductive system disease	WAGR syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:893	"" []	2046702	\N	\N	EFO	4	EFO	genetic disorder	WAGR syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:893	"" []	2046703	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	WAGR syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:893	"" []	2046704	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	WAGR syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:893	"" []	2046705	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	WAGR syndrome
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:893	"" []	2046706	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	WAGR syndrome
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:893	"" []	2046707	\N	\N	EFO	4	EFO	Glaucoma associated with neural crest cell migration anomaly	WAGR syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:893	"" []	2046708	\N	\N	EFO	4	EFO	Rare cataract	WAGR syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:893	"" []	7268667	\N	\N	EFO	13	EFO	material property	WAGR syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:893	"" []	3196734	\N	\N	EFO	5	EFO	Autosomal anomaly	WAGR syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:893	"" []	3196735	\N	\N	EFO	5	EFO	disease	WAGR syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:893	"" []	3196736	\N	\N	EFO	5	EFO	genetic disorder	WAGR syndrome
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:893	"" []	3196741	\N	\N	EFO	5	EFO	Secondary dysgenetic glaucoma	WAGR syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:893	"" []	3196742	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	WAGR syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:893	"" []	7346654	\N	\N	EFO	14	EFO	experimental factor	WAGR syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:893	"" []	4402331	\N	\N	EFO	6	EFO	Chromosomal anomaly	WAGR syndrome
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:893	"" []	4402332	\N	\N	EFO	6	EFO	Hereditary glaucoma	WAGR syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:893	"" []	4402333	\N	\N	EFO	6	EFO	Rare genetic eye disease	WAGR syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:893	"" []	5418374	\N	\N	EFO	7	EFO	genetic disorder	WAGR syndrome
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:893	"" []	5418375	\N	\N	EFO	7	EFO	Non-syndromic developmental defect of the eye	WAGR syndrome
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:893	"" []	6152981	\N	\N	EFO	8	EFO	Genetic developmental defect of the eye	WAGR syndrome
Orphanet:894	\N	\N	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	78308	\N	\N	EFO	0	EFO	Waardenburg syndrome type 1	Waardenburg syndrome type 1
Orphanet:3440	Orphanet:894	\N	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	223007	\N	\N	EFO	1	EFO	Waardenburg syndrome	Waardenburg syndrome type 1
Orphanet:108987	Orphanet:3440	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	579361	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Waardenburg syndrome type 1
Orphanet:138063	Orphanet:3440	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	579362	\N	\N	EFO	2	EFO	Syndrome associated with Pierre Robin syndrome	Waardenburg syndrome type 1
Orphanet:139027	Orphanet:3440	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	579363	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Waardenburg syndrome type 1
Orphanet:183469	Orphanet:3440	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	579364	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Waardenburg syndrome type 1
Orphanet:330206	Orphanet:3440	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	579365	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Waardenburg syndrome type 1
Orphanet:90642	Orphanet:3440	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	579366	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Waardenburg syndrome type 1
Orphanet:98601	Orphanet:3440	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	579367	\N	\N	EFO	2	EFO	Eyebrow/eyelashes pigmentation anomaly	Waardenburg syndrome type 1
Orphanet:98683	Orphanet:3440	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	579368	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Waardenburg syndrome type 1
Orphanet:98708	Orphanet:3440	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	579369	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement, excluding albinism	Waardenburg syndrome type 1
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	1163043	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Waardenburg syndrome type 1
Orphanet:363294	Orphanet:138063	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	1163044	\N	\N	EFO	3	EFO	Genetic syndromic Pierre Robin syndrome	Waardenburg syndrome type 1
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	1163045	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome type 1
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	1163046	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Waardenburg syndrome type 1
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	1163047	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Waardenburg syndrome type 1
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	1163048	\N	\N	EFO	3	EFO	Rare genetic deafness	Waardenburg syndrome type 1
Orphanet:98594	Orphanet:98601	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	1163049	\N	\N	EFO	3	EFO	Rare eyebrow/eyelashes anomaly	Waardenburg syndrome type 1
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	1163050	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Waardenburg syndrome type 1
Orphanet:98700	Orphanet:98708	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	1163051	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Waardenburg syndrome type 1
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	2046710	\N	\N	EFO	4	EFO	Rare genetic eye disease	Waardenburg syndrome type 1
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	2046711	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome type 1
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	2046712	\N	\N	EFO	4	EFO	Syndrome or malformation associated with head and neck malformations	Waardenburg syndrome type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	6152982	\N	\N	EFO	8	EFO	genetic disorder	Waardenburg syndrome type 1
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	2046714	\N	\N	EFO	4	EFO	Rare genetic skin disease	Waardenburg syndrome type 1
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	2046715	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome type 1
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	2046716	\N	\N	EFO	4	EFO	genetic disorder	Waardenburg syndrome type 1
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	2046717	\N	\N	EFO	4	EFO	auditory system disease	Waardenburg syndrome type 1
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	2046718	\N	\N	EFO	4	EFO	Rare palpebral disease	Waardenburg syndrome type 1
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	2046719	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Waardenburg syndrome type 1
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	2046720	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Waardenburg syndrome type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	5418381	\N	\N	EFO	7	EFO	genetic disorder	Waardenburg syndrome type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	5418382	\N	\N	EFO	7	EFO	eye disease	Waardenburg syndrome type 1
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	3196746	\N	\N	EFO	5	EFO	Rare otorhinolaryngological malformation	Waardenburg syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	6379004	\N	\N	EFO	9	EFO	disease	Waardenburg syndrome type 1
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	3196748	\N	\N	EFO	5	EFO	genetic disorder	Waardenburg syndrome type 1
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	3196749	\N	\N	EFO	5	EFO	skin disease	Waardenburg syndrome type 1
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	3196750	\N	\N	EFO	5	EFO	sensory system disease	Waardenburg syndrome type 1
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	3196751	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Waardenburg syndrome type 1
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	3196752	\N	\N	EFO	5	EFO	Rare genetic eye disease	Waardenburg syndrome type 1
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	3196753	\N	\N	EFO	5	EFO	Rare genetic eye disease	Waardenburg syndrome type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	5877798	\N	\N	EFO	8	EFO	disease	Waardenburg syndrome type 1
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	4402335	\N	\N	EFO	6	EFO	Genetic head and neck malformation	Waardenburg syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	6778844	\N	\N	EFO	10	EFO	disposition	Waardenburg syndrome type 1
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	4402337	\N	\N	EFO	6	EFO	disease	Waardenburg syndrome type 1
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	4402338	\N	\N	EFO	6	EFO	nervous system disease	Waardenburg syndrome type 1
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	4402339	\N	\N	EFO	6	EFO	Rare genetic eye disease	Waardenburg syndrome type 1
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	5418378	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	7030030	\N	\N	EFO	11	EFO	material property	Waardenburg syndrome type 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	5418380	\N	\N	EFO	7	EFO	disease	Waardenburg syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:894	"Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." []	7181829	\N	\N	EFO	12	EFO	experimental factor	Waardenburg syndrome type 1
Orphanet:895	\N	\N	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	78309	\N	\N	EFO	0	EFO	Waardenburg syndrome type 2	Waardenburg syndrome type 2
Orphanet:3440	Orphanet:895	\N	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	223008	\N	\N	EFO	1	EFO	Waardenburg syndrome	Waardenburg syndrome type 2
Orphanet:108987	Orphanet:3440	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	579370	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Waardenburg syndrome type 2
Orphanet:138063	Orphanet:3440	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	579371	\N	\N	EFO	2	EFO	Syndrome associated with Pierre Robin syndrome	Waardenburg syndrome type 2
Orphanet:139027	Orphanet:3440	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	579372	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Waardenburg syndrome type 2
Orphanet:183469	Orphanet:3440	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	579373	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Waardenburg syndrome type 2
Orphanet:330206	Orphanet:3440	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	579374	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Waardenburg syndrome type 2
Orphanet:90642	Orphanet:3440	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	579375	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Waardenburg syndrome type 2
Orphanet:98601	Orphanet:3440	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	579376	\N	\N	EFO	2	EFO	Eyebrow/eyelashes pigmentation anomaly	Waardenburg syndrome type 2
Orphanet:98683	Orphanet:3440	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	579377	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Waardenburg syndrome type 2
Orphanet:98708	Orphanet:3440	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	579378	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement, excluding albinism	Waardenburg syndrome type 2
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	1163052	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Waardenburg syndrome type 2
Orphanet:363294	Orphanet:138063	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	1163053	\N	\N	EFO	3	EFO	Genetic syndromic Pierre Robin syndrome	Waardenburg syndrome type 2
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	1163054	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome type 2
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	1163055	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Waardenburg syndrome type 2
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	1163056	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Waardenburg syndrome type 2
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	1163057	\N	\N	EFO	3	EFO	Rare genetic deafness	Waardenburg syndrome type 2
Orphanet:98594	Orphanet:98601	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	1163058	\N	\N	EFO	3	EFO	Rare eyebrow/eyelashes anomaly	Waardenburg syndrome type 2
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	1163059	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Waardenburg syndrome type 2
Orphanet:98700	Orphanet:98708	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	1163060	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Waardenburg syndrome type 2
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	2046721	\N	\N	EFO	4	EFO	Rare genetic eye disease	Waardenburg syndrome type 2
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	2046722	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome type 2
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	2046723	\N	\N	EFO	4	EFO	Syndrome or malformation associated with head and neck malformations	Waardenburg syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	6152984	\N	\N	EFO	8	EFO	genetic disorder	Waardenburg syndrome type 2
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	2046725	\N	\N	EFO	4	EFO	Rare genetic skin disease	Waardenburg syndrome type 2
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	2046726	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome type 2
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	2046727	\N	\N	EFO	4	EFO	genetic disorder	Waardenburg syndrome type 2
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	2046728	\N	\N	EFO	4	EFO	auditory system disease	Waardenburg syndrome type 2
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	2046729	\N	\N	EFO	4	EFO	Rare palpebral disease	Waardenburg syndrome type 2
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	2046730	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Waardenburg syndrome type 2
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	2046731	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Waardenburg syndrome type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	5418386	\N	\N	EFO	7	EFO	genetic disorder	Waardenburg syndrome type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	5418387	\N	\N	EFO	7	EFO	eye disease	Waardenburg syndrome type 2
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	3196757	\N	\N	EFO	5	EFO	Rare otorhinolaryngological malformation	Waardenburg syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	6379005	\N	\N	EFO	9	EFO	disease	Waardenburg syndrome type 2
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	3196759	\N	\N	EFO	5	EFO	genetic disorder	Waardenburg syndrome type 2
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	3196760	\N	\N	EFO	5	EFO	skin disease	Waardenburg syndrome type 2
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	3196761	\N	\N	EFO	5	EFO	sensory system disease	Waardenburg syndrome type 2
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	3196762	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Waardenburg syndrome type 2
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	3196763	\N	\N	EFO	5	EFO	Rare genetic eye disease	Waardenburg syndrome type 2
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	3196764	\N	\N	EFO	5	EFO	Rare genetic eye disease	Waardenburg syndrome type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	5877801	\N	\N	EFO	8	EFO	disease	Waardenburg syndrome type 2
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	4402343	\N	\N	EFO	6	EFO	Genetic head and neck malformation	Waardenburg syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	6778845	\N	\N	EFO	10	EFO	disposition	Waardenburg syndrome type 2
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	4402345	\N	\N	EFO	6	EFO	disease	Waardenburg syndrome type 2
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	4402346	\N	\N	EFO	6	EFO	nervous system disease	Waardenburg syndrome type 2
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	4402347	\N	\N	EFO	6	EFO	Rare genetic eye disease	Waardenburg syndrome type 2
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	5418383	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	7030031	\N	\N	EFO	11	EFO	material property	Waardenburg syndrome type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	5418385	\N	\N	EFO	7	EFO	disease	Waardenburg syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:895	"Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" []	7181830	\N	\N	EFO	12	EFO	experimental factor	Waardenburg syndrome type 2
Orphanet:896	\N	\N	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	78310	\N	\N	EFO	0	EFO	Waardenburg syndrome type 3	Waardenburg syndrome type 3
Orphanet:3440	Orphanet:896	\N	"Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	223009	\N	\N	EFO	1	EFO	Waardenburg syndrome	Waardenburg syndrome type 3
Orphanet:108987	Orphanet:3440	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	579379	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Waardenburg syndrome type 3
Orphanet:138063	Orphanet:3440	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	579380	\N	\N	EFO	2	EFO	Syndrome associated with Pierre Robin syndrome	Waardenburg syndrome type 3
Orphanet:139027	Orphanet:3440	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	579381	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Waardenburg syndrome type 3
Orphanet:183469	Orphanet:3440	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	579382	\N	\N	EFO	2	EFO	Genetic hypopigmentation of the skin	Waardenburg syndrome type 3
Orphanet:330206	Orphanet:3440	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	579383	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Waardenburg syndrome type 3
Orphanet:90642	Orphanet:3440	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	579384	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Waardenburg syndrome type 3
Orphanet:98601	Orphanet:3440	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	579385	\N	\N	EFO	2	EFO	Eyebrow/eyelashes pigmentation anomaly	Waardenburg syndrome type 3
Orphanet:98683	Orphanet:3440	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	579386	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Waardenburg syndrome type 3
Orphanet:98708	Orphanet:3440	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	579387	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement, excluding albinism	Waardenburg syndrome type 3
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	1163061	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Waardenburg syndrome type 3
Orphanet:363294	Orphanet:138063	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	1163062	\N	\N	EFO	3	EFO	Genetic syndromic Pierre Robin syndrome	Waardenburg syndrome type 3
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	1163063	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome type 3
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	1163064	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	Waardenburg syndrome type 3
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	1163065	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Waardenburg syndrome type 3
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	1163066	\N	\N	EFO	3	EFO	Rare genetic deafness	Waardenburg syndrome type 3
Orphanet:98594	Orphanet:98601	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	1163067	\N	\N	EFO	3	EFO	Rare eyebrow/eyelashes anomaly	Waardenburg syndrome type 3
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	1163068	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Waardenburg syndrome type 3
Orphanet:98700	Orphanet:98708	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	1163069	\N	\N	EFO	3	EFO	Pigmentation disorder with eye involvement	Waardenburg syndrome type 3
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	2046732	\N	\N	EFO	4	EFO	Rare genetic eye disease	Waardenburg syndrome type 3
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	2046733	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome type 3
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	2046734	\N	\N	EFO	4	EFO	Syndrome or malformation associated with head and neck malformations	Waardenburg syndrome type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	6152986	\N	\N	EFO	8	EFO	genetic disorder	Waardenburg syndrome type 3
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	2046736	\N	\N	EFO	4	EFO	Rare genetic skin disease	Waardenburg syndrome type 3
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	2046737	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome type 3
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	2046738	\N	\N	EFO	4	EFO	genetic disorder	Waardenburg syndrome type 3
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	2046739	\N	\N	EFO	4	EFO	auditory system disease	Waardenburg syndrome type 3
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	2046740	\N	\N	EFO	4	EFO	Rare palpebral disease	Waardenburg syndrome type 3
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	2046741	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Waardenburg syndrome type 3
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	2046742	\N	\N	EFO	4	EFO	Genodermatosis with ocular features	Waardenburg syndrome type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	5418391	\N	\N	EFO	7	EFO	genetic disorder	Waardenburg syndrome type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	5418392	\N	\N	EFO	7	EFO	eye disease	Waardenburg syndrome type 3
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	3196768	\N	\N	EFO	5	EFO	Rare otorhinolaryngological malformation	Waardenburg syndrome type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	6379006	\N	\N	EFO	9	EFO	disease	Waardenburg syndrome type 3
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	3196770	\N	\N	EFO	5	EFO	genetic disorder	Waardenburg syndrome type 3
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	3196771	\N	\N	EFO	5	EFO	skin disease	Waardenburg syndrome type 3
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	3196772	\N	\N	EFO	5	EFO	sensory system disease	Waardenburg syndrome type 3
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	3196773	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Waardenburg syndrome type 3
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	3196774	\N	\N	EFO	5	EFO	Rare genetic eye disease	Waardenburg syndrome type 3
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	3196775	\N	\N	EFO	5	EFO	Rare genetic eye disease	Waardenburg syndrome type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	5877804	\N	\N	EFO	8	EFO	disease	Waardenburg syndrome type 3
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	4402351	\N	\N	EFO	6	EFO	Genetic head and neck malformation	Waardenburg syndrome type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	6778846	\N	\N	EFO	10	EFO	disposition	Waardenburg syndrome type 3
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	4402353	\N	\N	EFO	6	EFO	disease	Waardenburg syndrome type 3
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	4402354	\N	\N	EFO	6	EFO	nervous system disease	Waardenburg syndrome type 3
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	4402355	\N	\N	EFO	6	EFO	Rare genetic eye disease	Waardenburg syndrome type 3
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	5418388	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg syndrome type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	7030032	\N	\N	EFO	11	EFO	material property	Waardenburg syndrome type 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	5418390	\N	\N	EFO	7	EFO	disease	Waardenburg syndrome type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:896	"Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" []	7181831	\N	\N	EFO	12	EFO	experimental factor	Waardenburg syndrome type 3
Orphanet:897	\N	\N	"" []	Orphanet:897	"" []	78311	\N	\N	EFO	0	EFO	Waardenburg-Shah syndrome	Waardenburg-Shah syndrome
Orphanet:104009	Orphanet:897	\N	"" []	Orphanet:897	"" []	223010	\N	\N	EFO	1	EFO	Congenital intestinal motility disorder	Waardenburg-Shah syndrome
Orphanet:108969	Orphanet:897	\N	"" []	Orphanet:897	"" []	223011	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Waardenburg-Shah syndrome
Orphanet:183469	Orphanet:897	\N	"" []	Orphanet:897	"" []	223012	\N	\N	EFO	1	EFO	Genetic hypopigmentation of the skin	Waardenburg-Shah syndrome
Orphanet:90642	Orphanet:897	\N	"" []	Orphanet:897	"" []	223013	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Waardenburg-Shah syndrome
Orphanet:98708	Orphanet:897	\N	"" []	Orphanet:897	"" []	223014	\N	\N	EFO	1	EFO	Pigmentation disorder with eye involvement, excluding albinism	Waardenburg-Shah syndrome
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:897	"" []	579388	\N	\N	EFO	2	EFO	Genetic intestinal disease	Waardenburg-Shah syndrome
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:897	"" []	579389	\N	\N	EFO	2	EFO	Intestinal malformation	Waardenburg-Shah syndrome
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:897	"" []	579390	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Waardenburg-Shah syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:897	"" []	579391	\N	\N	EFO	2	EFO	Rare genetic deafness	Waardenburg-Shah syndrome
Orphanet:98700	Orphanet:98708	\N	"" []	Orphanet:897	"" []	579392	\N	\N	EFO	2	EFO	Pigmentation disorder with eye involvement	Waardenburg-Shah syndrome
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:897	"" []	1163070	\N	\N	EFO	3	EFO	digestive system disease	Waardenburg-Shah syndrome
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:897	"" []	1163071	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Waardenburg-Shah syndrome
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:897	"" []	1163072	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Waardenburg-Shah syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:897	"" []	1163073	\N	\N	EFO	3	EFO	Rare genetic skin disease	Waardenburg-Shah syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:897	"" []	1163074	\N	\N	EFO	3	EFO	genetic disorder	Waardenburg-Shah syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:897	"" []	1163075	\N	\N	EFO	3	EFO	auditory system disease	Waardenburg-Shah syndrome
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:897	"" []	1163076	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Waardenburg-Shah syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:897	"" []	2046743	\N	\N	EFO	4	EFO	disease	Waardenburg-Shah syndrome
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:897	"" []	2046744	\N	\N	EFO	4	EFO	genetic disorder	Waardenburg-Shah syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:897	"" []	2046745	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Waardenburg-Shah syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:897	"" []	2046746	\N	\N	EFO	4	EFO	genetic disorder	Waardenburg-Shah syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:897	"" []	2046747	\N	\N	EFO	4	EFO	skin disease	Waardenburg-Shah syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:897	"" []	4402359	\N	\N	EFO	6	EFO	disease	Waardenburg-Shah syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:897	"" []	2046749	\N	\N	EFO	4	EFO	sensory system disease	Waardenburg-Shah syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:897	"" []	2046750	\N	\N	EFO	4	EFO	Rare genetic eye disease	Waardenburg-Shah syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:897	"" []	5060304	\N	\N	EFO	7	EFO	disposition	Waardenburg-Shah syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:897	"" []	3196778	\N	\N	EFO	5	EFO	genetic disorder	Waardenburg-Shah syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:897	"" []	3196779	\N	\N	EFO	5	EFO	disease	Waardenburg-Shah syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:897	"" []	3196780	\N	\N	EFO	5	EFO	nervous system disease	Waardenburg-Shah syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:897	"" []	3196781	\N	\N	EFO	5	EFO	genetic disorder	Waardenburg-Shah syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:897	"" []	3196782	\N	\N	EFO	5	EFO	eye disease	Waardenburg-Shah syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:897	"" []	5877806	\N	\N	EFO	8	EFO	material property	Waardenburg-Shah syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:897	"" []	4402360	\N	\N	EFO	6	EFO	disease	Waardenburg-Shah syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:897	"" []	4402361	\N	\N	EFO	6	EFO	disease	Waardenburg-Shah syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:897	"" []	6471022	\N	\N	EFO	9	EFO	experimental factor	Waardenburg-Shah syndrome
Orphanet:898	\N	\N	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	78312	\N	\N	EFO	0	EFO	Wagner disease	Wagner disease
Orphanet:98620	Orphanet:898	\N	"" []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	223015	\N	\N	EFO	1	EFO	Syndromic myopia	Wagner disease
Orphanet:98670	Orphanet:898	\N	"" []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	223016	\N	\N	EFO	1	EFO	Vitreoretinal degeneration	Wagner disease
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	579393	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	Wagner disease
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	579394	\N	\N	EFO	2	EFO	Vitreoretinopathy	Wagner disease
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	1163077	\N	\N	EFO	3	EFO	Rare genetic eye disease	Wagner disease
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	1163078	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Wagner disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	3196785	\N	\N	EFO	5	EFO	genetic disorder	Wagner disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	3196786	\N	\N	EFO	5	EFO	eye disease	Wagner disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	2046753	\N	\N	EFO	4	EFO	Rare genetic eye disease	Wagner disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	4134433	\N	\N	EFO	6	EFO	disease	Wagner disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	4134434	\N	\N	EFO	6	EFO	disease	Wagner disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	5183504	\N	\N	EFO	7	EFO	disposition	Wagner disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	5998825	\N	\N	EFO	8	EFO	material property	Wagner disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:898	"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." []	6551846	\N	\N	EFO	9	EFO	experimental factor	Wagner disease
Orphanet:89832	\N	\N	"" []	Orphanet:89832	"" []	78313	\N	\N	EFO	0	EFO	Syndromic lymphedema	Syndromic lymphedema
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:89832	"" []	223017	\N	\N	EFO	1	EFO	Lymphedema	Syndromic lymphedema
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:89832	"" []	579395	\N	\N	EFO	2	EFO	Rare genetic skin disease	Syndromic lymphedema
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89832	"" []	1163079	\N	\N	EFO	3	EFO	genetic disorder	Syndromic lymphedema
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:89832	"" []	1163080	\N	\N	EFO	3	EFO	skin disease	Syndromic lymphedema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89832	"" []	2046754	\N	\N	EFO	4	EFO	disease	Syndromic lymphedema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89832	"" []	2046755	\N	\N	EFO	4	EFO	disease	Syndromic lymphedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:89832	"" []	3196787	\N	\N	EFO	5	EFO	disposition	Syndromic lymphedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:89832	"" []	4402363	\N	\N	EFO	6	EFO	material property	Syndromic lymphedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:89832	"" []	5418395	\N	\N	EFO	7	EFO	experimental factor	Syndromic lymphedema
Orphanet:89838	\N	\N	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	78314	\N	\N	EFO	0	EFO	KRT14-related epidermolysis bullosa simplex	KRT14-related epidermolysis bullosa simplex
Orphanet:158665	Orphanet:89838	\N	"" []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	223018	\N	\N	EFO	1	EFO	Basal epidermolysis bullosa simplex	KRT14-related epidermolysis bullosa simplex
Orphanet:304	Orphanet:158665	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	579396	\N	\N	EFO	2	EFO	Epidermolysis bullosa simplex	KRT14-related epidermolysis bullosa simplex
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	1163081	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	KRT14-related epidermolysis bullosa simplex
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	2046756	\N	\N	EFO	4	EFO	Genetic epidermal disorder	KRT14-related epidermolysis bullosa simplex
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	3196788	\N	\N	EFO	5	EFO	Rare genetic skin disease	KRT14-related epidermolysis bullosa simplex
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	4402364	\N	\N	EFO	6	EFO	genetic disorder	KRT14-related epidermolysis bullosa simplex
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	4402365	\N	\N	EFO	6	EFO	skin disease	KRT14-related epidermolysis bullosa simplex
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	5418396	\N	\N	EFO	7	EFO	disease	KRT14-related epidermolysis bullosa simplex
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	5418397	\N	\N	EFO	7	EFO	disease	KRT14-related epidermolysis bullosa simplex
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	6152989	\N	\N	EFO	8	EFO	disposition	KRT14-related epidermolysis bullosa simplex
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	6634237	\N	\N	EFO	9	EFO	material property	KRT14-related epidermolysis bullosa simplex
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:89838	"Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." []	6926278	\N	\N	EFO	10	EFO	experimental factor	KRT14-related epidermolysis bullosa simplex
Orphanet:89839	\N	\N	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	78315	\N	\N	EFO	0	EFO	Epidermolysis bullosa simplex superficialis	Epidermolysis bullosa simplex superficialis
Orphanet:158661	Orphanet:89839	\N	"" []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	223019	\N	\N	EFO	1	EFO	Suprabasal epidermolysis bullosa simplex	Epidermolysis bullosa simplex superficialis
Orphanet:304	Orphanet:158661	\N	"Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	579397	\N	\N	EFO	2	EFO	Epidermolysis bullosa simplex	Epidermolysis bullosa simplex superficialis
Orphanet:79361	Orphanet:304	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	1163082	\N	\N	EFO	3	EFO	Inherited epidermolysis bullosa	Epidermolysis bullosa simplex superficialis
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	2046757	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Epidermolysis bullosa simplex superficialis
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	3196789	\N	\N	EFO	5	EFO	Rare genetic skin disease	Epidermolysis bullosa simplex superficialis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	4402366	\N	\N	EFO	6	EFO	genetic disorder	Epidermolysis bullosa simplex superficialis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	4402367	\N	\N	EFO	6	EFO	skin disease	Epidermolysis bullosa simplex superficialis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	5418398	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex superficialis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	5418399	\N	\N	EFO	7	EFO	disease	Epidermolysis bullosa simplex superficialis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	6152990	\N	\N	EFO	8	EFO	disposition	Epidermolysis bullosa simplex superficialis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	6634238	\N	\N	EFO	9	EFO	material property	Epidermolysis bullosa simplex superficialis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:89839	"Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." []	6926279	\N	\N	EFO	10	EFO	experimental factor	Epidermolysis bullosa simplex superficialis
Orphanet:89840	\N	\N	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	78316	\N	\N	EFO	0	EFO	Junctional epidermolysis bullosa, non-Herlitz type	Junctional epidermolysis bullosa, non-Herlitz type
Orphanet:305	Orphanet:89840	\N	"Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	223020	\N	\N	EFO	1	EFO	Junctional epidermolysis bullosa	Junctional epidermolysis bullosa, non-Herlitz type
EFO:1000690	Orphanet:305	\N	"a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	579398	\N	\N	EFO	2	EFO	epidermolysis bullosa	Junctional epidermolysis bullosa, non-Herlitz type
Orphanet:139027	Orphanet:305	\N	"" []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	579399	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Junctional epidermolysis bullosa, non-Herlitz type
Orphanet:79361	Orphanet:305	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	579400	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Junctional epidermolysis bullosa, non-Herlitz type
EFO:1000774	EFO:1000690	\N	"Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	1163083	\N	\N	EFO	3	EFO	vesiculobullous skin disease	Junctional epidermolysis bullosa, non-Herlitz type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	1163084	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Junctional epidermolysis bullosa, non-Herlitz type
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	1163085	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Junctional epidermolysis bullosa, non-Herlitz type
EFO:0000701	EFO:1000774	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	2046758	\N	\N	EFO	4	EFO	skin disease	Junctional epidermolysis bullosa, non-Herlitz type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	2046759	\N	\N	EFO	4	EFO	genetic disorder	Junctional epidermolysis bullosa, non-Herlitz type
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	2046760	\N	\N	EFO	4	EFO	Rare genetic skin disease	Junctional epidermolysis bullosa, non-Herlitz type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	4402370	\N	\N	EFO	6	EFO	disease	Junctional epidermolysis bullosa, non-Herlitz type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	4402369	\N	\N	EFO	6	EFO	disease	Junctional epidermolysis bullosa, non-Herlitz type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	3196792	\N	\N	EFO	5	EFO	genetic disorder	Junctional epidermolysis bullosa, non-Herlitz type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	3196793	\N	\N	EFO	5	EFO	skin disease	Junctional epidermolysis bullosa, non-Herlitz type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	5183505	\N	\N	EFO	7	EFO	disposition	Junctional epidermolysis bullosa, non-Herlitz type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	5998826	\N	\N	EFO	8	EFO	material property	Junctional epidermolysis bullosa, non-Herlitz type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:89840	"Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." []	6551847	\N	\N	EFO	9	EFO	experimental factor	Junctional epidermolysis bullosa, non-Herlitz type
Orphanet:89841	\N	\N	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	78317	\N	\N	EFO	0	EFO	Centripetalis recessive dystrophic epidermolysis bullosa	Centripetalis recessive dystrophic epidermolysis bullosa
Orphanet:303	Orphanet:89841	\N	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	223021	\N	\N	EFO	1	EFO	Dystrophic epidermolysis bullosa	Centripetalis recessive dystrophic epidermolysis bullosa
Orphanet:139027	Orphanet:303	\N	"" []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	579401	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Centripetalis recessive dystrophic epidermolysis bullosa
Orphanet:79361	Orphanet:303	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	579402	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Centripetalis recessive dystrophic epidermolysis bullosa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	1163086	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Centripetalis recessive dystrophic epidermolysis bullosa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	1163087	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Centripetalis recessive dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	2046761	\N	\N	EFO	4	EFO	genetic disorder	Centripetalis recessive dystrophic epidermolysis bullosa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	2046762	\N	\N	EFO	4	EFO	Rare genetic skin disease	Centripetalis recessive dystrophic epidermolysis bullosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	4402372	\N	\N	EFO	6	EFO	disease	Centripetalis recessive dystrophic epidermolysis bullosa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	3196795	\N	\N	EFO	5	EFO	genetic disorder	Centripetalis recessive dystrophic epidermolysis bullosa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	3196796	\N	\N	EFO	5	EFO	skin disease	Centripetalis recessive dystrophic epidermolysis bullosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	5183506	\N	\N	EFO	7	EFO	disposition	Centripetalis recessive dystrophic epidermolysis bullosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	4402373	\N	\N	EFO	6	EFO	disease	Centripetalis recessive dystrophic epidermolysis bullosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	5998827	\N	\N	EFO	8	EFO	material property	Centripetalis recessive dystrophic epidermolysis bullosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:89841	"Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." []	6551848	\N	\N	EFO	9	EFO	experimental factor	Centripetalis recessive dystrophic epidermolysis bullosa
Orphanet:89842	\N	\N	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	78318	\N	\N	EFO	0	EFO	Recessive dystrophic epidermolysis bullosa-generalized other	Recessive dystrophic epidermolysis bullosa-generalized other
Orphanet:263676	Orphanet:89842	\N	"" []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	223022	\N	\N	EFO	1	EFO	Hereditary epidermolysis bullosa associated with ocular features	Recessive dystrophic epidermolysis bullosa-generalized other
Orphanet:303	Orphanet:89842	\N	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	223023	\N	\N	EFO	1	EFO	Dystrophic epidermolysis bullosa	Recessive dystrophic epidermolysis bullosa-generalized other
Orphanet:98696	Orphanet:263676	\N	"" []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	579403	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Recessive dystrophic epidermolysis bullosa-generalized other
Orphanet:139027	Orphanet:303	\N	"" []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	579404	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Recessive dystrophic epidermolysis bullosa-generalized other
Orphanet:79361	Orphanet:303	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	579405	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Recessive dystrophic epidermolysis bullosa-generalized other
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	1163088	\N	\N	EFO	3	EFO	Rare genetic eye disease	Recessive dystrophic epidermolysis bullosa-generalized other
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	1163089	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Recessive dystrophic epidermolysis bullosa-generalized other
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	1163090	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Recessive dystrophic epidermolysis bullosa-generalized other
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	2046763	\N	\N	EFO	4	EFO	genetic disorder	Recessive dystrophic epidermolysis bullosa-generalized other
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	2046764	\N	\N	EFO	4	EFO	eye disease	Recessive dystrophic epidermolysis bullosa-generalized other
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	2046765	\N	\N	EFO	4	EFO	genetic disorder	Recessive dystrophic epidermolysis bullosa-generalized other
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	2046766	\N	\N	EFO	4	EFO	Rare genetic skin disease	Recessive dystrophic epidermolysis bullosa-generalized other
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	4402375	\N	\N	EFO	6	EFO	disease	Recessive dystrophic epidermolysis bullosa-generalized other
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	3196798	\N	\N	EFO	5	EFO	disease	Recessive dystrophic epidermolysis bullosa-generalized other
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	3196799	\N	\N	EFO	5	EFO	genetic disorder	Recessive dystrophic epidermolysis bullosa-generalized other
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	3196800	\N	\N	EFO	5	EFO	skin disease	Recessive dystrophic epidermolysis bullosa-generalized other
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	5183507	\N	\N	EFO	7	EFO	disposition	Recessive dystrophic epidermolysis bullosa-generalized other
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	4402376	\N	\N	EFO	6	EFO	disease	Recessive dystrophic epidermolysis bullosa-generalized other
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	5998828	\N	\N	EFO	8	EFO	material property	Recessive dystrophic epidermolysis bullosa-generalized other
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:89842	"Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." []	6551849	\N	\N	EFO	9	EFO	experimental factor	Recessive dystrophic epidermolysis bullosa-generalized other
Orphanet:89843	\N	\N	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	78319	\N	\N	EFO	0	EFO	Dystrophic epidermolysis bullosa pruriginosa	Dystrophic epidermolysis bullosa pruriginosa
Orphanet:303	Orphanet:89843	\N	"Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	223024	\N	\N	EFO	1	EFO	Dystrophic epidermolysis bullosa	Dystrophic epidermolysis bullosa pruriginosa
Orphanet:139027	Orphanet:303	\N	"" []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	579406	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Dystrophic epidermolysis bullosa pruriginosa
Orphanet:79361	Orphanet:303	\N	"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	579407	\N	\N	EFO	2	EFO	Inherited epidermolysis bullosa	Dystrophic epidermolysis bullosa pruriginosa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	1163091	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dystrophic epidermolysis bullosa pruriginosa
Orphanet:183426	Orphanet:79361	\N	"" []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	1163092	\N	\N	EFO	3	EFO	Genetic epidermal disorder	Dystrophic epidermolysis bullosa pruriginosa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	2046767	\N	\N	EFO	4	EFO	genetic disorder	Dystrophic epidermolysis bullosa pruriginosa
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	2046768	\N	\N	EFO	4	EFO	Rare genetic skin disease	Dystrophic epidermolysis bullosa pruriginosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	4402378	\N	\N	EFO	6	EFO	disease	Dystrophic epidermolysis bullosa pruriginosa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	3196802	\N	\N	EFO	5	EFO	genetic disorder	Dystrophic epidermolysis bullosa pruriginosa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	3196803	\N	\N	EFO	5	EFO	skin disease	Dystrophic epidermolysis bullosa pruriginosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	5183508	\N	\N	EFO	7	EFO	disposition	Dystrophic epidermolysis bullosa pruriginosa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	4402379	\N	\N	EFO	6	EFO	disease	Dystrophic epidermolysis bullosa pruriginosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	5998829	\N	\N	EFO	8	EFO	material property	Dystrophic epidermolysis bullosa pruriginosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:89843	"Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." []	6551850	\N	\N	EFO	9	EFO	experimental factor	Dystrophic epidermolysis bullosa pruriginosa
Orphanet:89844	\N	\N	"" []	Orphanet:89844	"" []	78320	\N	\N	EFO	0	EFO	Lissencephaly syndrome, Norman-Roberts type	Lissencephaly syndrome, Norman-Roberts type
Orphanet:1083	Orphanet:89844	\N	"" []	Orphanet:89844	"" []	223025	\N	\N	EFO	1	EFO	Microlissencephaly	Lissencephaly syndrome, Norman-Roberts type
Orphanet:89832	Orphanet:89844	\N	"" []	Orphanet:89844	"" []	223026	\N	\N	EFO	1	EFO	Syndromic lymphedema	Lissencephaly syndrome, Norman-Roberts type
Orphanet:48471	Orphanet:1083	\N	"" []	Orphanet:89844	"" []	579408	\N	\N	EFO	2	EFO	Lissencephaly	Lissencephaly syndrome, Norman-Roberts type
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:89844	"" []	579409	\N	\N	EFO	2	EFO	Lymphedema	Lissencephaly syndrome, Norman-Roberts type
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:89844	"" []	1163093	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Lissencephaly syndrome, Norman-Roberts type
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:89844	"" []	1163094	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly syndrome, Norman-Roberts type
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:89844	"" []	1163095	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly syndrome, Norman-Roberts type
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:89844	"" []	1163096	\N	\N	EFO	3	EFO	Rare genetic skin disease	Lissencephaly syndrome, Norman-Roberts type
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:89844	"" []	2046769	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Lissencephaly syndrome, Norman-Roberts type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:89844	"" []	2046770	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Lissencephaly syndrome, Norman-Roberts type
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:89844	"" []	2046771	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lissencephaly syndrome, Norman-Roberts type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89844	"" []	2046772	\N	\N	EFO	4	EFO	genetic disorder	Lissencephaly syndrome, Norman-Roberts type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:89844	"" []	2046773	\N	\N	EFO	4	EFO	skin disease	Lissencephaly syndrome, Norman-Roberts type
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:89844	"" []	3196804	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly syndrome, Norman-Roberts type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:89844	"" []	3196805	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly syndrome, Norman-Roberts type
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:89844	"" []	3196806	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly syndrome, Norman-Roberts type
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:89844	"" []	3196807	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly syndrome, Norman-Roberts type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89844	"" []	5418404	\N	\N	EFO	7	EFO	disease	Lissencephaly syndrome, Norman-Roberts type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89844	"" []	3196809	\N	\N	EFO	5	EFO	disease	Lissencephaly syndrome, Norman-Roberts type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89844	"" []	4402380	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly syndrome, Norman-Roberts type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89844	"" []	4402381	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly syndrome, Norman-Roberts type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:89844	"" []	5877807	\N	\N	EFO	8	EFO	disposition	Lissencephaly syndrome, Norman-Roberts type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:89844	"" []	6471023	\N	\N	EFO	9	EFO	material property	Lissencephaly syndrome, Norman-Roberts type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:89844	"" []	6848847	\N	\N	EFO	10	EFO	experimental factor	Lissencephaly syndrome, Norman-Roberts type
Orphanet:899	\N	\N	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	78321	\N	\N	EFO	0	EFO	Walker-Warburg syndrome	Walker-Warburg syndrome
Orphanet:207119	Orphanet:899	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	223027	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of FKRP	Walker-Warburg syndrome
Orphanet:207122	Orphanet:899	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	223028	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of fukutin	Walker-Warburg syndrome
Orphanet:209024	Orphanet:899	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	223029	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	Walker-Warburg syndrome
Orphanet:209030	Orphanet:899	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	223030	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein O-mannosyltransferase 1	Walker-Warburg syndrome
Orphanet:209033	Orphanet:899	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	223031	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein O-mannosyltransferase 2	Walker-Warburg syndrome
Orphanet:309469	Orphanet:899	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	223032	\N	\N	EFO	1	EFO	Disorder of O-mannosylglycan synthesis	Walker-Warburg syndrome
Orphanet:352687	Orphanet:899	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	223033	\N	\N	EFO	1	EFO	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	Walker-Warburg syndrome
Orphanet:371064	Orphanet:899	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	223034	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Walker-Warburg syndrome
Orphanet:371071	Orphanet:899	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	223035	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Walker-Warburg syndrome
Orphanet:371235	Orphanet:899	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	223036	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with developmental anomaly	Walker-Warburg syndrome
Orphanet:98669	Orphanet:899	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	223037	\N	\N	EFO	1	EFO	Congenital vitreoretinal dysplasia	Walker-Warburg syndrome
Orphanet:207113	Orphanet:207119	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579410	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Walker-Warburg syndrome
Orphanet:207113	Orphanet:207122	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579411	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Walker-Warburg syndrome
Orphanet:207113	Orphanet:209024	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579412	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Walker-Warburg syndrome
Orphanet:207113	Orphanet:209030	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579413	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Walker-Warburg syndrome
Orphanet:207113	Orphanet:209033	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579414	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Walker-Warburg syndrome
Orphanet:309447	Orphanet:309469	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579415	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Walker-Warburg syndrome
Orphanet:370953	Orphanet:352687	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579416	\N	\N	EFO	2	EFO	Congenital muscular dystrophy due to dystroglycanopathy	Walker-Warburg syndrome
Orphanet:51577	Orphanet:352687	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579417	\N	\N	EFO	2	EFO	Cobblestone lissencephaly	Walker-Warburg syndrome
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579418	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Walker-Warburg syndrome
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579419	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Walker-Warburg syndrome
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579420	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Walker-Warburg syndrome
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579421	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Walker-Warburg syndrome
Orphanet:98668	Orphanet:98669	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	579422	\N	\N	EFO	2	EFO	Vitreoretinopathy	Walker-Warburg syndrome
Orphanet:371024	Orphanet:207113	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	1163097	\N	\N	EFO	3	EFO	Qualitative or quantitative defects of alpha-dystroglycan	Walker-Warburg syndrome
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	1163098	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Walker-Warburg syndrome
Orphanet:97242	Orphanet:370953	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	1163099	\N	\N	EFO	3	EFO	Congenital muscular dystrophy	Walker-Warburg syndrome
Orphanet:48471	Orphanet:51577	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	1163100	\N	\N	EFO	3	EFO	Lissencephaly	Walker-Warburg syndrome
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	1163101	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Walker-Warburg syndrome
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	1163102	\N	\N	EFO	3	EFO	Neurometabolic disease	Walker-Warburg syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	1163103	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Walker-Warburg syndrome
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	1163104	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Walker-Warburg syndrome
Orphanet:207049	Orphanet:371024	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	2046774	\N	\N	EFO	4	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Walker-Warburg syndrome
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	2046775	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Walker-Warburg syndrome
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	2046776	\N	\N	EFO	4	EFO	Muscular dystrophy	Walker-Warburg syndrome
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	2046777	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Walker-Warburg syndrome
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	2046778	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Walker-Warburg syndrome
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	2046779	\N	\N	EFO	4	EFO	Genetic syndrome with a central nervous system malformation as major feature	Walker-Warburg syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	3196815	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Walker-Warburg syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	2046781	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Walker-Warburg syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	5418409	\N	\N	EFO	7	EFO	genetic disorder	Walker-Warburg syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	2046783	\N	\N	EFO	4	EFO	Rare genetic eye disease	Walker-Warburg syndrome
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	3196810	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Walker-Warburg syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	3196811	\N	\N	EFO	5	EFO	genetic disorder	Walker-Warburg syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	3196812	\N	\N	EFO	5	EFO	metabolic disease	Walker-Warburg syndrome
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	3196813	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Walker-Warburg syndrome
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	3196814	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Walker-Warburg syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	3196816	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Walker-Warburg syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	4134435	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Walker-Warburg syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	5998831	\N	\N	EFO	8	EFO	genetic disorder	Walker-Warburg syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	6410398	\N	\N	EFO	9	EFO	disease	Walker-Warburg syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	3196820	\N	\N	EFO	5	EFO	genetic disorder	Walker-Warburg syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	3196821	\N	\N	EFO	5	EFO	eye disease	Walker-Warburg syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	5418407	\N	\N	EFO	7	EFO	muscular disease	Walker-Warburg syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	5418408	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Walker-Warburg syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	4402386	\N	\N	EFO	6	EFO	disease	Walker-Warburg syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	4402387	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Walker-Warburg syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	4402388	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Walker-Warburg syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	4402389	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Walker-Warburg syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	4402390	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Walker-Warburg syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	6778847	\N	\N	EFO	10	EFO	disposition	Walker-Warburg syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	4402393	\N	\N	EFO	6	EFO	disease	Walker-Warburg syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	5998830	\N	\N	EFO	8	EFO	skeletal system disease	Walker-Warburg syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	7030033	\N	\N	EFO	11	EFO	material property	Walker-Warburg syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	6551851	\N	\N	EFO	9	EFO	disease	Walker-Warburg syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:899	"Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." []	7181832	\N	\N	EFO	12	EFO	experimental factor	Walker-Warburg syndrome
Orphanet:89936	\N	\N	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	78322	\N	\N	EFO	0	EFO	X-linked hypophosphatemia	X-linked hypophosphatemia
Orphanet:437	Orphanet:89936	\N	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	223038	\N	\N	EFO	1	EFO	Hypophosphatemic rickets	X-linked hypophosphatemia
Orphanet:183592	Orphanet:437	\N	"" []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	579423	\N	\N	EFO	2	EFO	Genetic renal tubular disease	X-linked hypophosphatemia
Orphanet:289098	Orphanet:437	\N	"" []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	579424	\N	\N	EFO	2	EFO	Disorders of vitamin D metabolism	X-linked hypophosphatemia
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	1163105	\N	\N	EFO	3	EFO	Rare genetic renal disease	X-linked hypophosphatemia
EFO:0005596	Orphanet:289098	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	1163106	\N	\N	EFO	3	EFO	vitamin metabolic disorder	X-linked hypophosphatemia
Orphanet:183634	Orphanet:289098	\N	"" []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	1163107	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	X-linked hypophosphatemia
Orphanet:93447	Orphanet:289098	\N	"" []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	1163108	\N	\N	EFO	3	EFO	Primary bone dysplasia with defective bone mineralization	X-linked hypophosphatemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	2046784	\N	\N	EFO	4	EFO	genetic disorder	X-linked hypophosphatemia
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	2046785	\N	\N	EFO	4	EFO	metabolic disease	X-linked hypophosphatemia
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	2046786	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	X-linked hypophosphatemia
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	2046787	\N	\N	EFO	4	EFO	Primary bone dysplasia	X-linked hypophosphatemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	6153000	\N	\N	EFO	8	EFO	disease	X-linked hypophosphatemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	3196823	\N	\N	EFO	5	EFO	disease	X-linked hypophosphatemia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	3196824	\N	\N	EFO	5	EFO	genetic disorder	X-linked hypophosphatemia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	3196825	\N	\N	EFO	5	EFO	endocrine system disease	X-linked hypophosphatemia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	3196826	\N	\N	EFO	5	EFO	Rare genetic bone disease	X-linked hypophosphatemia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	3196827	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	X-linked hypophosphatemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	6410400	\N	\N	EFO	9	EFO	disposition	X-linked hypophosphatemia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	4402396	\N	\N	EFO	6	EFO	disease	X-linked hypophosphatemia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	4402397	\N	\N	EFO	6	EFO	genetic disorder	X-linked hypophosphatemia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	4402398	\N	\N	EFO	6	EFO	bone disease	X-linked hypophosphatemia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	4402399	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	X-linked hypophosphatemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	6808199	\N	\N	EFO	10	EFO	material property	X-linked hypophosphatemia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	5418413	\N	\N	EFO	7	EFO	skeletal system disease	X-linked hypophosphatemia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	5418414	\N	\N	EFO	7	EFO	genetic disorder	X-linked hypophosphatemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	7048823	\N	\N	EFO	11	EFO	experimental factor	X-linked hypophosphatemia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89936	"X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." []	6152999	\N	\N	EFO	8	EFO	disease	X-linked hypophosphatemia
Orphanet:89937	\N	\N	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	78323	\N	\N	EFO	0	EFO	Autosomal dominant hypophosphatemic rickets	Autosomal dominant hypophosphatemic rickets
Orphanet:437	Orphanet:89937	\N	"Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	223039	\N	\N	EFO	1	EFO	Hypophosphatemic rickets	Autosomal dominant hypophosphatemic rickets
Orphanet:183592	Orphanet:437	\N	"" []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	579425	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Autosomal dominant hypophosphatemic rickets
Orphanet:289098	Orphanet:437	\N	"" []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	579426	\N	\N	EFO	2	EFO	Disorders of vitamin D metabolism	Autosomal dominant hypophosphatemic rickets
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	1163109	\N	\N	EFO	3	EFO	Rare genetic renal disease	Autosomal dominant hypophosphatemic rickets
EFO:0005596	Orphanet:289098	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	1163110	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Autosomal dominant hypophosphatemic rickets
Orphanet:183634	Orphanet:289098	\N	"" []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	1163111	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Autosomal dominant hypophosphatemic rickets
Orphanet:93447	Orphanet:289098	\N	"" []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	1163112	\N	\N	EFO	3	EFO	Primary bone dysplasia with defective bone mineralization	Autosomal dominant hypophosphatemic rickets
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	2046788	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant hypophosphatemic rickets
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	2046789	\N	\N	EFO	4	EFO	metabolic disease	Autosomal dominant hypophosphatemic rickets
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	2046790	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Autosomal dominant hypophosphatemic rickets
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	2046791	\N	\N	EFO	4	EFO	Primary bone dysplasia	Autosomal dominant hypophosphatemic rickets
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	6153003	\N	\N	EFO	8	EFO	disease	Autosomal dominant hypophosphatemic rickets
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	3196829	\N	\N	EFO	5	EFO	disease	Autosomal dominant hypophosphatemic rickets
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	3196830	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant hypophosphatemic rickets
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	3196831	\N	\N	EFO	5	EFO	endocrine system disease	Autosomal dominant hypophosphatemic rickets
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	3196832	\N	\N	EFO	5	EFO	Rare genetic bone disease	Autosomal dominant hypophosphatemic rickets
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	3196833	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Autosomal dominant hypophosphatemic rickets
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	6410401	\N	\N	EFO	9	EFO	disposition	Autosomal dominant hypophosphatemic rickets
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	4402402	\N	\N	EFO	6	EFO	disease	Autosomal dominant hypophosphatemic rickets
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	4402403	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant hypophosphatemic rickets
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	4402404	\N	\N	EFO	6	EFO	bone disease	Autosomal dominant hypophosphatemic rickets
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	4402405	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant hypophosphatemic rickets
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	6808200	\N	\N	EFO	10	EFO	material property	Autosomal dominant hypophosphatemic rickets
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	5418417	\N	\N	EFO	7	EFO	skeletal system disease	Autosomal dominant hypophosphatemic rickets
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	5418418	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant hypophosphatemic rickets
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	7048824	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant hypophosphatemic rickets
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89937	"Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." []	6153002	\N	\N	EFO	8	EFO	disease	Autosomal dominant hypophosphatemic rickets
Orphanet:89938	\N	\N	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	78324	\N	\N	EFO	0	EFO	Infantile Bartter syndrome with sensorineural deafness	Infantile Bartter syndrome with sensorineural deafness
Orphanet:112	Orphanet:89938	\N	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	223040	\N	\N	EFO	1	EFO	Bartter syndrome	Infantile Bartter syndrome with sensorineural deafness
Orphanet:90642	Orphanet:89938	\N	"" []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	223041	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Infantile Bartter syndrome with sensorineural deafness
Orphanet:183592	Orphanet:112	\N	"" []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	579427	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Infantile Bartter syndrome with sensorineural deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	579428	\N	\N	EFO	2	EFO	Rare genetic deafness	Infantile Bartter syndrome with sensorineural deafness
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	1163113	\N	\N	EFO	3	EFO	Rare genetic renal disease	Infantile Bartter syndrome with sensorineural deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	1163114	\N	\N	EFO	3	EFO	genetic disorder	Infantile Bartter syndrome with sensorineural deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	1163115	\N	\N	EFO	3	EFO	auditory system disease	Infantile Bartter syndrome with sensorineural deafness
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	2046792	\N	\N	EFO	4	EFO	genetic disorder	Infantile Bartter syndrome with sensorineural deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	3196834	\N	\N	EFO	5	EFO	disease	Infantile Bartter syndrome with sensorineural deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	2046794	\N	\N	EFO	4	EFO	sensory system disease	Infantile Bartter syndrome with sensorineural deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	5418420	\N	\N	EFO	7	EFO	disposition	Infantile Bartter syndrome with sensorineural deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	3196836	\N	\N	EFO	5	EFO	nervous system disease	Infantile Bartter syndrome with sensorineural deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	5877811	\N	\N	EFO	8	EFO	material property	Infantile Bartter syndrome with sensorineural deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	4402407	\N	\N	EFO	6	EFO	disease	Infantile Bartter syndrome with sensorineural deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:89938	"Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." []	6471027	\N	\N	EFO	9	EFO	experimental factor	Infantile Bartter syndrome with sensorineural deafness
Orphanet:9	\N	\N	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	78325	\N	\N	EFO	0	EFO	Tetrasomy X	Tetrasomy X
Orphanet:263723	Orphanet:9	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	223042	\N	\N	EFO	1	EFO	Polysomy of X chromosome	Tetrasomy X
Orphanet:400022	Orphanet:9	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	223043	\N	\N	EFO	1	EFO	Rare female infertility due to an anomaly of ovarian function of genetic origin	Tetrasomy X
Orphanet:95710	Orphanet:9	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	223044	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	Tetrasomy X
Orphanet:263717	Orphanet:263723	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	579429	\N	\N	EFO	2	EFO	X chromosome number anomaly with female phenotype	Tetrasomy X
EFO:0005771	Orphanet:400022	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	579430	\N	\N	EFO	2	EFO	ovarian disease	Tetrasomy X
Orphanet:400011	Orphanet:400022	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	579431	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Tetrasomy X
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	579432	\N	\N	EFO	2	EFO	ovarian disease	Tetrasomy X
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	579433	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Tetrasomy X
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	579434	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Tetrasomy X
Orphanet:263714	Orphanet:263717	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	1163116	\N	\N	EFO	3	EFO	X chromosome number anomaly	Tetrasomy X
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	1163117	\N	\N	EFO	3	EFO	reproductive system disease	Tetrasomy X
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	1163118	\N	\N	EFO	3	EFO	Rare genetic female infertility	Tetrasomy X
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	1163119	\N	\N	EFO	3	EFO	genetic disorder	Tetrasomy X
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	1163120	\N	\N	EFO	3	EFO	endocrine system disease	Tetrasomy X
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	1163121	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Tetrasomy X
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	2046795	\N	\N	EFO	4	EFO	Gonosome number anomaly	Tetrasomy X
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	4402411	\N	\N	EFO	6	EFO	disease	Tetrasomy X
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	2046797	\N	\N	EFO	4	EFO	Genetic infertility	Tetrasomy X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	6153004	\N	\N	EFO	8	EFO	disease	Tetrasomy X
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	2046799	\N	\N	EFO	4	EFO	disease	Tetrasomy X
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	2046800	\N	\N	EFO	4	EFO	genetic disorder	Tetrasomy X
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	2046801	\N	\N	EFO	4	EFO	reproductive system disease	Tetrasomy X
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	3196837	\N	\N	EFO	5	EFO	Gonosome anomaly	Tetrasomy X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	6379007	\N	\N	EFO	9	EFO	disposition	Tetrasomy X
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	3196839	\N	\N	EFO	5	EFO	genetic disorder	Tetrasomy X
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	3196840	\N	\N	EFO	5	EFO	reproductive system disease	Tetrasomy X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	4402408	\N	\N	EFO	6	EFO	Chromosomal anomaly	Tetrasomy X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	6778848	\N	\N	EFO	10	EFO	material property	Tetrasomy X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	5418421	\N	\N	EFO	7	EFO	genetic disorder	Tetrasomy X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:9	"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." []	7030034	\N	\N	EFO	11	EFO	experimental factor	Tetrasomy X
Orphanet:90	\N	\N	"Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." []	Orphanet:90	"Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." []	78326	\N	\N	EFO	0	EFO	Argininemia	Argininemia
Orphanet:79167	Orphanet:90	\N	"" []	Orphanet:90	"Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." []	223045	\N	\N	EFO	1	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Argininemia
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:90	"Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." []	579435	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Argininemia
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:90	"Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." []	1163122	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Argininemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90	"Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." []	2046802	\N	\N	EFO	4	EFO	genetic disorder	Argininemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:90	"Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." []	2046803	\N	\N	EFO	4	EFO	metabolic disease	Argininemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90	"Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." []	3196843	\N	\N	EFO	5	EFO	disease	Argininemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90	"Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." []	3196844	\N	\N	EFO	5	EFO	disease	Argininemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90	"Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." []	4402412	\N	\N	EFO	6	EFO	disposition	Argininemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90	"Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." []	5418423	\N	\N	EFO	7	EFO	material property	Argininemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90	"Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." []	6153005	\N	\N	EFO	8	EFO	experimental factor	Argininemia
Orphanet:90001	\N	\N	"" []	Orphanet:90001	"" []	78327	\N	\N	EFO	0	EFO	X-linked cone dysfunction syndrome with myopia	X-linked cone dysfunction syndrome with myopia
Orphanet:98620	Orphanet:90001	\N	"" []	Orphanet:90001	"" []	223046	\N	\N	EFO	1	EFO	Syndromic myopia	X-linked cone dysfunction syndrome with myopia
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:90001	"" []	579436	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	X-linked cone dysfunction syndrome with myopia
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:90001	"" []	1163123	\N	\N	EFO	3	EFO	Rare genetic eye disease	X-linked cone dysfunction syndrome with myopia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90001	"" []	2046804	\N	\N	EFO	4	EFO	genetic disorder	X-linked cone dysfunction syndrome with myopia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:90001	"" []	2046805	\N	\N	EFO	4	EFO	eye disease	X-linked cone dysfunction syndrome with myopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90001	"" []	3196845	\N	\N	EFO	5	EFO	disease	X-linked cone dysfunction syndrome with myopia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90001	"" []	3196846	\N	\N	EFO	5	EFO	disease	X-linked cone dysfunction syndrome with myopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90001	"" []	4402413	\N	\N	EFO	6	EFO	disposition	X-linked cone dysfunction syndrome with myopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90001	"" []	5418424	\N	\N	EFO	7	EFO	material property	X-linked cone dysfunction syndrome with myopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90001	"" []	6153006	\N	\N	EFO	8	EFO	experimental factor	X-linked cone dysfunction syndrome with myopia
Orphanet:90023	\N	\N	"" []	Orphanet:90023	"" []	78328	\N	\N	EFO	0	EFO	Primary immunodeficiency syndrome due to p14 deficiency	Primary immunodeficiency syndrome due to p14 deficiency
Orphanet:331184	Orphanet:90023	\N	"" []	Orphanet:90023	"" []	223047	\N	\N	EFO	1	EFO	Constitutional neutropenia with extra-haematopoietic manifestations	Primary immunodeficiency syndrome due to p14 deficiency
Orphanet:101987	Orphanet:331184	\N	"" []	Orphanet:90023	"" []	579437	\N	\N	EFO	2	EFO	Constitutional neutropenia	Primary immunodeficiency syndrome due to p14 deficiency
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:90023	"" []	1163124	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Primary immunodeficiency syndrome due to p14 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:90023	"" []	2046806	\N	\N	EFO	4	EFO	Primary immunodeficiency	Primary immunodeficiency syndrome due to p14 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:90023	"" []	3196847	\N	\N	EFO	5	EFO	Rare genetic immune disease	Primary immunodeficiency syndrome due to p14 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90023	"" []	4402414	\N	\N	EFO	6	EFO	genetic disorder	Primary immunodeficiency syndrome due to p14 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:90023	"" []	4402415	\N	\N	EFO	6	EFO	immune system disease	Primary immunodeficiency syndrome due to p14 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90023	"" []	5418425	\N	\N	EFO	7	EFO	disease	Primary immunodeficiency syndrome due to p14 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90023	"" []	5418426	\N	\N	EFO	7	EFO	disease	Primary immunodeficiency syndrome due to p14 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90023	"" []	6153007	\N	\N	EFO	8	EFO	disposition	Primary immunodeficiency syndrome due to p14 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90023	"" []	6634239	\N	\N	EFO	9	EFO	material property	Primary immunodeficiency syndrome due to p14 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90023	"" []	6926280	\N	\N	EFO	10	EFO	experimental factor	Primary immunodeficiency syndrome due to p14 deficiency
Orphanet:90024	\N	\N	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	Orphanet:90024	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	78329	\N	\N	EFO	0	EFO	Deafness with labyrinthine aplasia, microtia, and microdontia	Deafness with labyrinthine aplasia, microtia, and microdontia
Orphanet:90642	Orphanet:90024	\N	"" []	Orphanet:90024	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	223048	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness with labyrinthine aplasia, microtia, and microdontia
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90024	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	579438	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness with labyrinthine aplasia, microtia, and microdontia
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90024	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	1163125	\N	\N	EFO	3	EFO	genetic disorder	Deafness with labyrinthine aplasia, microtia, and microdontia
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90024	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	1163126	\N	\N	EFO	3	EFO	auditory system disease	Deafness with labyrinthine aplasia, microtia, and microdontia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90024	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	2046807	\N	\N	EFO	4	EFO	disease	Deafness with labyrinthine aplasia, microtia, and microdontia
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90024	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	2046808	\N	\N	EFO	4	EFO	sensory system disease	Deafness with labyrinthine aplasia, microtia, and microdontia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90024	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	5418428	\N	\N	EFO	7	EFO	disposition	Deafness with labyrinthine aplasia, microtia, and microdontia
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90024	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	3196849	\N	\N	EFO	5	EFO	nervous system disease	Deafness with labyrinthine aplasia, microtia, and microdontia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90024	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	5877813	\N	\N	EFO	8	EFO	material property	Deafness with labyrinthine aplasia, microtia, and microdontia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90024	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	4402417	\N	\N	EFO	6	EFO	disease	Deafness with labyrinthine aplasia, microtia, and microdontia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90024	"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." []	6471029	\N	\N	EFO	9	EFO	experimental factor	Deafness with labyrinthine aplasia, microtia, and microdontia
Orphanet:90025	\N	\N	"" []	Orphanet:90025	"" []	78330	\N	\N	EFO	0	EFO	Syndactyly	Syndactyly
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:90025	"" []	223049	\N	\N	EFO	1	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Syndactyly
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:90025	"" []	579439	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Syndactyly
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:90025	"" []	579440	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndactyly
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:90025	"" []	1163127	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Syndactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:90025	"" []	1163128	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Syndactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:90025	"" []	2046809	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:90025	"" []	2046810	\N	\N	EFO	4	EFO	Rare genetic bone disease	Syndactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:90025	"" []	2046811	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Syndactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90025	"" []	4402420	\N	\N	EFO	6	EFO	genetic disorder	Syndactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90025	"" []	3196851	\N	\N	EFO	5	EFO	genetic disorder	Syndactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:90025	"" []	3196852	\N	\N	EFO	5	EFO	bone disease	Syndactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:90025	"" []	3196853	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90025	"" []	5183516	\N	\N	EFO	7	EFO	disease	Syndactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:90025	"" []	4402419	\N	\N	EFO	6	EFO	skeletal system disease	Syndactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90025	"" []	5998837	\N	\N	EFO	8	EFO	disposition	Syndactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90025	"" []	5418430	\N	\N	EFO	7	EFO	disease	Syndactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90025	"" []	6551855	\N	\N	EFO	9	EFO	material property	Syndactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90025	"" []	6889555	\N	\N	EFO	10	EFO	experimental factor	Syndactyly
Orphanet:90026	\N	\N	"" []	Orphanet:90026	"" []	78331	\N	\N	EFO	0	EFO	Primary erythermalgia	Primary erythermalgia
Orphanet:140474	Orphanet:90026	\N	"" []	Orphanet:90026	"" []	223050	\N	\N	EFO	1	EFO	Autosomal dominant hereditary sensory and autonomic neuropathy	Primary erythermalgia
Orphanet:140471	Orphanet:140474	\N	"" []	Orphanet:90026	"" []	579441	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Primary erythermalgia
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:90026	"" []	1163129	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Primary erythermalgia
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:90026	"" []	2046812	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Primary erythermalgia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90026	"" []	3196854	\N	\N	EFO	5	EFO	genetic disorder	Primary erythermalgia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90026	"" []	4402421	\N	\N	EFO	6	EFO	disease	Primary erythermalgia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90026	"" []	5418431	\N	\N	EFO	7	EFO	disposition	Primary erythermalgia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90026	"" []	6153009	\N	\N	EFO	8	EFO	material property	Primary erythermalgia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90026	"" []	6634241	\N	\N	EFO	9	EFO	experimental factor	Primary erythermalgia
Orphanet:90030	\N	\N	"" []	Orphanet:90030	"" []	78332	\N	\N	EFO	0	EFO	Hemolytic anemia due to glutathione reductase deficiency	Hemolytic anemia due to glutathione reductase deficiency
Orphanet:98370	Orphanet:90030	\N	"" []	Orphanet:90030	"" []	223051	\N	\N	EFO	1	EFO	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	Hemolytic anemia due to glutathione reductase deficiency
Orphanet:98369	Orphanet:98370	\N	"" []	Orphanet:90030	"" []	579442	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Hemolytic anemia due to glutathione reductase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:90030	"" []	1163130	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Hemolytic anemia due to glutathione reductase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:90030	"" []	2046813	\N	\N	EFO	4	EFO	Rare constitutional anemia	Hemolytic anemia due to glutathione reductase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:90030	"" []	3196855	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Hemolytic anemia due to glutathione reductase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90030	"" []	4402422	\N	\N	EFO	6	EFO	genetic disorder	Hemolytic anemia due to glutathione reductase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:90030	"" []	4402423	\N	\N	EFO	6	EFO	hematological system disease	Hemolytic anemia due to glutathione reductase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90030	"" []	5418432	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to glutathione reductase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90030	"" []	5418433	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to glutathione reductase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90030	"" []	6153010	\N	\N	EFO	8	EFO	disposition	Hemolytic anemia due to glutathione reductase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90030	"" []	6634242	\N	\N	EFO	9	EFO	material property	Hemolytic anemia due to glutathione reductase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90030	"" []	6926281	\N	\N	EFO	10	EFO	experimental factor	Hemolytic anemia due to glutathione reductase deficiency
Orphanet:90031	\N	\N	"" []	Orphanet:90031	"" []	78333	\N	\N	EFO	0	EFO	Non-spherocytic hemolytic anemia due to hexokinase deficiency	Non-spherocytic hemolytic anemia due to hexokinase deficiency
Orphanet:98372	Orphanet:90031	\N	"" []	Orphanet:90031	"" []	223052	\N	\N	EFO	1	EFO	Hemolytic anemia due to a disorder of glycolytic enzymes	Non-spherocytic hemolytic anemia due to hexokinase deficiency
Orphanet:98369	Orphanet:98372	\N	"" []	Orphanet:90031	"" []	579443	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Non-spherocytic hemolytic anemia due to hexokinase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:90031	"" []	1163131	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Non-spherocytic hemolytic anemia due to hexokinase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:90031	"" []	2046814	\N	\N	EFO	4	EFO	Rare constitutional anemia	Non-spherocytic hemolytic anemia due to hexokinase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:90031	"" []	3196856	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Non-spherocytic hemolytic anemia due to hexokinase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90031	"" []	4402424	\N	\N	EFO	6	EFO	genetic disorder	Non-spherocytic hemolytic anemia due to hexokinase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:90031	"" []	4402425	\N	\N	EFO	6	EFO	hematological system disease	Non-spherocytic hemolytic anemia due to hexokinase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90031	"" []	5418434	\N	\N	EFO	7	EFO	disease	Non-spherocytic hemolytic anemia due to hexokinase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90031	"" []	5418435	\N	\N	EFO	7	EFO	disease	Non-spherocytic hemolytic anemia due to hexokinase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90031	"" []	6153011	\N	\N	EFO	8	EFO	disposition	Non-spherocytic hemolytic anemia due to hexokinase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90031	"" []	6634243	\N	\N	EFO	9	EFO	material property	Non-spherocytic hemolytic anemia due to hexokinase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90031	"" []	6926282	\N	\N	EFO	10	EFO	experimental factor	Non-spherocytic hemolytic anemia due to hexokinase deficiency
Orphanet:90039	\N	\N	"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." []	Orphanet:90039	"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." []	78334	\N	\N	EFO	0	EFO	Hemoglobin D disease	Hemoglobin D disease
Orphanet:68364	Orphanet:90039	\N	"" []	Orphanet:90039	"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." []	223053	\N	\N	EFO	1	EFO	Hemoglobinopathy	Hemoglobin D disease
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:90039	"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." []	579444	\N	\N	EFO	2	EFO	Rare constitutional anemia	Hemoglobin D disease
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:90039	"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." []	1163132	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Hemoglobin D disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90039	"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." []	2046815	\N	\N	EFO	4	EFO	genetic disorder	Hemoglobin D disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:90039	"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." []	2046816	\N	\N	EFO	4	EFO	hematological system disease	Hemoglobin D disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90039	"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." []	3196857	\N	\N	EFO	5	EFO	disease	Hemoglobin D disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90039	"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." []	3196858	\N	\N	EFO	5	EFO	disease	Hemoglobin D disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90039	"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." []	4402426	\N	\N	EFO	6	EFO	disposition	Hemoglobin D disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90039	"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." []	5418436	\N	\N	EFO	7	EFO	material property	Hemoglobin D disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90039	"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." []	6153012	\N	\N	EFO	8	EFO	experimental factor	Hemoglobin D disease
Orphanet:90042	\N	\N	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	Orphanet:90042	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	78335	\N	\N	EFO	0	EFO	Primary familial polycythemia	Primary familial polycythemia
Orphanet:250165	Orphanet:90042	\N	"" []	Orphanet:90042	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	223054	\N	\N	EFO	1	EFO	Genetic polycythemia	Primary familial polycythemia
EFO:0005804	Orphanet:250165	\N	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	Orphanet:90042	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	579445	\N	\N	EFO	2	EFO	polycythemia	Primary familial polycythemia
Orphanet:158300	Orphanet:250165	\N	"" []	Orphanet:90042	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	579446	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Primary familial polycythemia
EFO:0005803	EFO:0005804	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:90042	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	1163133	\N	\N	EFO	3	EFO	hematological system disease	Primary familial polycythemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90042	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	1163134	\N	\N	EFO	3	EFO	genetic disorder	Primary familial polycythemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:90042	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	1163135	\N	\N	EFO	3	EFO	hematological system disease	Primary familial polycythemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90042	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	2046817	\N	\N	EFO	4	EFO	disease	Primary familial polycythemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90042	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	2046818	\N	\N	EFO	4	EFO	disease	Primary familial polycythemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90042	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	3196859	\N	\N	EFO	5	EFO	disposition	Primary familial polycythemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90042	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	4402427	\N	\N	EFO	6	EFO	material property	Primary familial polycythemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90042	"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." []	5418437	\N	\N	EFO	7	EFO	experimental factor	Primary familial polycythemia
Orphanet:90044	\N	\N	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	78336	\N	\N	EFO	0	EFO	Familial pseudohyperkalemia	Familial pseudohyperkalemia
Orphanet:98365	Orphanet:90044	\N	"" []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	223055	\N	\N	EFO	1	EFO	Hereditary stomatocytosis	Familial pseudohyperkalemia
Orphanet:98364	Orphanet:98365	\N	"" []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	579447	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Familial pseudohyperkalemia
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	1163136	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Familial pseudohyperkalemia
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	2046819	\N	\N	EFO	4	EFO	Rare constitutional anemia	Familial pseudohyperkalemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	3196860	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Familial pseudohyperkalemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	4402428	\N	\N	EFO	6	EFO	genetic disorder	Familial pseudohyperkalemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	4402429	\N	\N	EFO	6	EFO	hematological system disease	Familial pseudohyperkalemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	5418438	\N	\N	EFO	7	EFO	disease	Familial pseudohyperkalemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	5418439	\N	\N	EFO	7	EFO	disease	Familial pseudohyperkalemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	6153013	\N	\N	EFO	8	EFO	disposition	Familial pseudohyperkalemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	6634244	\N	\N	EFO	9	EFO	material property	Familial pseudohyperkalemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90044	"Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C" []	6926283	\N	\N	EFO	10	EFO	experimental factor	Familial pseudohyperkalemia
Orphanet:90045	\N	\N	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	78337	\N	\N	EFO	0	EFO	Hereditary folate malabsorption	Hereditary folate malabsorption
Orphanet:104004	Orphanet:90045	\N	"" []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	223056	\N	\N	EFO	1	EFO	Intestinal disease due to vitamin absorption anomaly	Hereditary folate malabsorption
Orphanet:285657	Orphanet:90045	\N	"" []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	223057	\N	\N	EFO	1	EFO	Disorder of folate metabolism and transport	Hereditary folate malabsorption
Orphanet:98408	Orphanet:90045	\N	"" []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	223058	\N	\N	EFO	1	EFO	Constitutional megaloblastic anemia due to folate metabolism disorder	Hereditary folate malabsorption
Orphanet:165655	Orphanet:104004	\N	"" []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	579448	\N	\N	EFO	2	EFO	Genetic intestinal disease	Hereditary folate malabsorption
Orphanet:309827	Orphanet:285657	\N	"" []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	579449	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Hereditary folate malabsorption
Orphanet:248296	Orphanet:98408	\N	"" []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	579450	\N	\N	EFO	2	EFO	Constitutional deficiency anemia	Hereditary folate malabsorption
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	1163137	\N	\N	EFO	3	EFO	digestive system disease	Hereditary folate malabsorption
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	1163138	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Hereditary folate malabsorption
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	1163139	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Hereditary folate malabsorption
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	1163140	\N	\N	EFO	3	EFO	Rare constitutional anemia	Hereditary folate malabsorption
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	2046820	\N	\N	EFO	4	EFO	disease	Hereditary folate malabsorption
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	2046821	\N	\N	EFO	4	EFO	genetic disorder	Hereditary folate malabsorption
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	2046822	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hereditary folate malabsorption
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	2046823	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hereditary folate malabsorption
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	5183518	\N	\N	EFO	7	EFO	disposition	Hereditary folate malabsorption
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	4402432	\N	\N	EFO	6	EFO	disease	Hereditary folate malabsorption
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	3196863	\N	\N	EFO	5	EFO	genetic disorder	Hereditary folate malabsorption
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	3196864	\N	\N	EFO	5	EFO	metabolic disease	Hereditary folate malabsorption
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	3196865	\N	\N	EFO	5	EFO	genetic disorder	Hereditary folate malabsorption
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	3196866	\N	\N	EFO	5	EFO	hematological system disease	Hereditary folate malabsorption
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	5877814	\N	\N	EFO	8	EFO	material property	Hereditary folate malabsorption
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	4402433	\N	\N	EFO	6	EFO	disease	Hereditary folate malabsorption
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	4402434	\N	\N	EFO	6	EFO	disease	Hereditary folate malabsorption
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90045	"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." []	6471030	\N	\N	EFO	9	EFO	experimental factor	Hereditary folate malabsorption
Orphanet:90103	\N	\N	"" []	Orphanet:90103	"" []	78338	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease - deafness - intellectual disability	Charcot-Marie-Tooth disease - deafness - intellectual disability
Orphanet:140459	Orphanet:90103	\N	"" []	Orphanet:90103	"" []	223059	\N	\N	EFO	1	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease - deafness - intellectual disability
Orphanet:166	Orphanet:90103	\N	"" []	Orphanet:90103	"" []	223060	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease - deafness - intellectual disability
Orphanet:183763	Orphanet:90103	\N	"" []	Orphanet:90103	"" []	223061	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Charcot-Marie-Tooth disease - deafness - intellectual disability
Orphanet:90642	Orphanet:90103	\N	"" []	Orphanet:90103	"" []	223062	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Charcot-Marie-Tooth disease - deafness - intellectual disability
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:90103	"" []	579451	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease - deafness - intellectual disability
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:90103	"" []	579452	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease - deafness - intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:90103	"" []	579453	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Charcot-Marie-Tooth disease - deafness - intellectual disability
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90103	"" []	579454	\N	\N	EFO	2	EFO	Rare genetic deafness	Charcot-Marie-Tooth disease - deafness - intellectual disability
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:90103	"" []	1163141	\N	\N	EFO	3	EFO	motor neuron disease	Charcot-Marie-Tooth disease - deafness - intellectual disability
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:90103	"" []	1163142	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease - deafness - intellectual disability
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:90103	"" []	2046825	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease - deafness - intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:90103	"" []	1163144	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease - deafness - intellectual disability
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90103	"" []	1163145	\N	\N	EFO	3	EFO	genetic disorder	Charcot-Marie-Tooth disease - deafness - intellectual disability
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90103	"" []	1163146	\N	\N	EFO	3	EFO	auditory system disease	Charcot-Marie-Tooth disease - deafness - intellectual disability
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:90103	"" []	2046824	\N	\N	EFO	4	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease - deafness - intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90103	"" []	3000475	\N	\N	EFO	5	EFO	genetic disorder	Charcot-Marie-Tooth disease - deafness - intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90103	"" []	4134438	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease - deafness - intellectual disability
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90103	"" []	2046828	\N	\N	EFO	4	EFO	sensory system disease	Charcot-Marie-Tooth disease - deafness - intellectual disability
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90103	"" []	3196867	\N	\N	EFO	5	EFO	nervous system disease	Charcot-Marie-Tooth disease - deafness - intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90103	"" []	5060306	\N	\N	EFO	7	EFO	disposition	Charcot-Marie-Tooth disease - deafness - intellectual disability
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90103	"" []	3196870	\N	\N	EFO	5	EFO	nervous system disease	Charcot-Marie-Tooth disease - deafness - intellectual disability
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90103	"" []	4402435	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease - deafness - intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90103	"" []	5877815	\N	\N	EFO	8	EFO	material property	Charcot-Marie-Tooth disease - deafness - intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90103	"" []	6471031	\N	\N	EFO	9	EFO	experimental factor	Charcot-Marie-Tooth disease - deafness - intellectual disability
Orphanet:90114	\N	\N	"" []	Orphanet:90114	"" []	78339	\N	\N	EFO	0	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease
Orphanet:140450	Orphanet:90114	\N	"" []	Orphanet:90114	"" []	223063	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease
Orphanet:166	Orphanet:90114	\N	"" []	Orphanet:90114	"" []	223064	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:90114	"" []	579455	\N	\N	EFO	2	EFO	motor neuron disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:90114	"" []	579456	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:90114	"" []	579457	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:90114	"" []	1163147	\N	\N	EFO	3	EFO	neurodegenerative disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:90114	"" []	1163148	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90114	"" []	2046829	\N	\N	EFO	4	EFO	nervous system disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90114	"" []	2046830	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90114	"" []	3196871	\N	\N	EFO	5	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90114	"" []	3196872	\N	\N	EFO	5	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90114	"" []	4402437	\N	\N	EFO	6	EFO	disposition	Autosomal dominant intermediate Charcot-Marie-Tooth disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90114	"" []	5418442	\N	\N	EFO	7	EFO	material property	Autosomal dominant intermediate Charcot-Marie-Tooth disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90114	"" []	6153014	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant intermediate Charcot-Marie-Tooth disease
Orphanet:90117	\N	\N	"" []	Orphanet:90117	"" []	78340	\N	\N	EFO	0	EFO	Hereditary motor and sensory neuropathy, Okinawa type	Hereditary motor and sensory neuropathy, Okinawa type
Orphanet:140456	Orphanet:90117	\N	"" []	Orphanet:90117	"" []	223065	\N	\N	EFO	1	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Hereditary motor and sensory neuropathy, Okinawa type
Orphanet:166	Orphanet:90117	\N	"" []	Orphanet:90117	"" []	223066	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease	Hereditary motor and sensory neuropathy, Okinawa type
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:90117	"" []	579458	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Hereditary motor and sensory neuropathy, Okinawa type
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:90117	"" []	579459	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Hereditary motor and sensory neuropathy, Okinawa type
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:90117	"" []	1163149	\N	\N	EFO	3	EFO	motor neuron disease	Hereditary motor and sensory neuropathy, Okinawa type
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:90117	"" []	1163150	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary motor and sensory neuropathy, Okinawa type
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:90117	"" []	2046832	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary motor and sensory neuropathy, Okinawa type
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:90117	"" []	2046831	\N	\N	EFO	4	EFO	neurodegenerative disease	Hereditary motor and sensory neuropathy, Okinawa type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90117	"" []	3000476	\N	\N	EFO	5	EFO	genetic disorder	Hereditary motor and sensory neuropathy, Okinawa type
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90117	"" []	3196873	\N	\N	EFO	5	EFO	nervous system disease	Hereditary motor and sensory neuropathy, Okinawa type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90117	"" []	4134440	\N	\N	EFO	6	EFO	disease	Hereditary motor and sensory neuropathy, Okinawa type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90117	"" []	4402438	\N	\N	EFO	6	EFO	disease	Hereditary motor and sensory neuropathy, Okinawa type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90117	"" []	5183520	\N	\N	EFO	7	EFO	disposition	Hereditary motor and sensory neuropathy, Okinawa type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90117	"" []	5998840	\N	\N	EFO	8	EFO	material property	Hereditary motor and sensory neuropathy, Okinawa type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90117	"" []	6551856	\N	\N	EFO	9	EFO	experimental factor	Hereditary motor and sensory neuropathy, Okinawa type
Orphanet:90118	\N	\N	"" []	Orphanet:90118	"" []	78341	\N	\N	EFO	0	EFO	Severe early-onset axonal neuropathy due to MFN2 deficiency	Severe early-onset axonal neuropathy due to MFN2 deficiency
Orphanet:140450	Orphanet:90118	\N	"" []	Orphanet:90118	"" []	223067	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	Severe early-onset axonal neuropathy due to MFN2 deficiency
Orphanet:166	Orphanet:90118	\N	"" []	Orphanet:90118	"" []	223068	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease	Severe early-onset axonal neuropathy due to MFN2 deficiency
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:90118	"" []	579460	\N	\N	EFO	2	EFO	motor neuron disease	Severe early-onset axonal neuropathy due to MFN2 deficiency
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:90118	"" []	579461	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Severe early-onset axonal neuropathy due to MFN2 deficiency
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:90118	"" []	579462	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Severe early-onset axonal neuropathy due to MFN2 deficiency
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:90118	"" []	1163152	\N	\N	EFO	3	EFO	neurodegenerative disease	Severe early-onset axonal neuropathy due to MFN2 deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:90118	"" []	1163153	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Severe early-onset axonal neuropathy due to MFN2 deficiency
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90118	"" []	2046834	\N	\N	EFO	4	EFO	nervous system disease	Severe early-onset axonal neuropathy due to MFN2 deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90118	"" []	2046835	\N	\N	EFO	4	EFO	genetic disorder	Severe early-onset axonal neuropathy due to MFN2 deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90118	"" []	3196875	\N	\N	EFO	5	EFO	disease	Severe early-onset axonal neuropathy due to MFN2 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90118	"" []	3196876	\N	\N	EFO	5	EFO	disease	Severe early-onset axonal neuropathy due to MFN2 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90118	"" []	4402440	\N	\N	EFO	6	EFO	disposition	Severe early-onset axonal neuropathy due to MFN2 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90118	"" []	5418444	\N	\N	EFO	7	EFO	material property	Severe early-onset axonal neuropathy due to MFN2 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90118	"" []	6153016	\N	\N	EFO	8	EFO	experimental factor	Severe early-onset axonal neuropathy due to MFN2 deficiency
Orphanet:90119	\N	\N	"" []	Orphanet:90119	"" []	78342	\N	\N	EFO	0	EFO	Axonal Charcot-Marie-Tooth disease with acrodystrophy	Axonal Charcot-Marie-Tooth disease with acrodystrophy
Orphanet:140450	Orphanet:90119	\N	"" []	Orphanet:90119	"" []	223069	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	Axonal Charcot-Marie-Tooth disease with acrodystrophy
Orphanet:166	Orphanet:90119	\N	"" []	Orphanet:90119	"" []	223070	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease	Axonal Charcot-Marie-Tooth disease with acrodystrophy
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:90119	"" []	579463	\N	\N	EFO	2	EFO	motor neuron disease	Axonal Charcot-Marie-Tooth disease with acrodystrophy
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:90119	"" []	579464	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Axonal Charcot-Marie-Tooth disease with acrodystrophy
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:90119	"" []	579465	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Axonal Charcot-Marie-Tooth disease with acrodystrophy
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:90119	"" []	1163154	\N	\N	EFO	3	EFO	neurodegenerative disease	Axonal Charcot-Marie-Tooth disease with acrodystrophy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:90119	"" []	1163155	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Axonal Charcot-Marie-Tooth disease with acrodystrophy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90119	"" []	2046836	\N	\N	EFO	4	EFO	nervous system disease	Axonal Charcot-Marie-Tooth disease with acrodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90119	"" []	2046837	\N	\N	EFO	4	EFO	genetic disorder	Axonal Charcot-Marie-Tooth disease with acrodystrophy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90119	"" []	3196877	\N	\N	EFO	5	EFO	disease	Axonal Charcot-Marie-Tooth disease with acrodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90119	"" []	3196878	\N	\N	EFO	5	EFO	disease	Axonal Charcot-Marie-Tooth disease with acrodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90119	"" []	4402441	\N	\N	EFO	6	EFO	disposition	Axonal Charcot-Marie-Tooth disease with acrodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90119	"" []	5418445	\N	\N	EFO	7	EFO	material property	Axonal Charcot-Marie-Tooth disease with acrodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90119	"" []	6153017	\N	\N	EFO	8	EFO	experimental factor	Axonal Charcot-Marie-Tooth disease with acrodystrophy
Orphanet:90120	\N	\N	"" []	Orphanet:90120	"" []	78343	\N	\N	EFO	0	EFO	Hereditary motor and sensory neuropathy type 6	Hereditary motor and sensory neuropathy type 6
Orphanet:140456	Orphanet:90120	\N	"" []	Orphanet:90120	"" []	223071	\N	\N	EFO	1	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Hereditary motor and sensory neuropathy type 6
Orphanet:166	Orphanet:90120	\N	"" []	Orphanet:90120	"" []	223072	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease	Hereditary motor and sensory neuropathy type 6
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:90120	"" []	579466	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Hereditary motor and sensory neuropathy type 6
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:90120	"" []	579467	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Hereditary motor and sensory neuropathy type 6
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:90120	"" []	1163156	\N	\N	EFO	3	EFO	motor neuron disease	Hereditary motor and sensory neuropathy type 6
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:90120	"" []	1163157	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary motor and sensory neuropathy type 6
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:90120	"" []	2046839	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary motor and sensory neuropathy type 6
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:90120	"" []	2046838	\N	\N	EFO	4	EFO	neurodegenerative disease	Hereditary motor and sensory neuropathy type 6
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90120	"" []	3000477	\N	\N	EFO	5	EFO	genetic disorder	Hereditary motor and sensory neuropathy type 6
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90120	"" []	3196879	\N	\N	EFO	5	EFO	nervous system disease	Hereditary motor and sensory neuropathy type 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90120	"" []	4134441	\N	\N	EFO	6	EFO	disease	Hereditary motor and sensory neuropathy type 6
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90120	"" []	4402442	\N	\N	EFO	6	EFO	disease	Hereditary motor and sensory neuropathy type 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90120	"" []	5183521	\N	\N	EFO	7	EFO	disposition	Hereditary motor and sensory neuropathy type 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90120	"" []	5998841	\N	\N	EFO	8	EFO	material property	Hereditary motor and sensory neuropathy type 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90120	"" []	6551857	\N	\N	EFO	9	EFO	experimental factor	Hereditary motor and sensory neuropathy type 6
Orphanet:90153	\N	\N	"" []	Orphanet:90153	"" []	78344	\N	\N	EFO	0	EFO	Mandibuloacral dysplasia with type A lipodystrophy	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:2457	Orphanet:90153	\N	"" []	Orphanet:90153	"" []	223073	\N	\N	EFO	1	EFO	Mandibuloacral dysplasia	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:330206	Orphanet:2457	\N	"" []	Orphanet:90153	"" []	579468	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:363245	Orphanet:2457	\N	"" []	Orphanet:90153	"" []	579469	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:93449	Orphanet:2457	\N	"" []	Orphanet:90153	"" []	579470	\N	\N	EFO	2	EFO	Primary osteolysis	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:98306	Orphanet:2457	\N	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	Orphanet:90153	"" []	579471	\N	\N	EFO	2	EFO	Familial partial lipodystrophy	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:90153	"" []	1163159	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:90153	"" []	1163160	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:90153	"" []	1163161	\N	\N	EFO	3	EFO	Primary bone dysplasia	Mandibuloacral dysplasia with type A lipodystrophy
EFO:1000727	Orphanet:98306	\N	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	Orphanet:90153	"" []	1163162	\N	\N	EFO	3	EFO	lipodystrophy	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:98305	Orphanet:98306	\N	"" []	Orphanet:90153	"" []	1163163	\N	\N	EFO	3	EFO	Genetic lipodystrophy	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:90153	"" []	2046841	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90153	"" []	4402446	\N	\N	EFO	6	EFO	genetic disorder	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:90153	"" []	2046843	\N	\N	EFO	4	EFO	Rare genetic bone disease	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:90153	"" []	2046844	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0000701	EFO:1000727	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90153	"" []	2046845	\N	\N	EFO	4	EFO	skin disease	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:90153	"" []	2046846	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:90153	"" []	2046847	\N	\N	EFO	4	EFO	Primary lipodystrophy	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90153	"" []	6153020	\N	\N	EFO	8	EFO	disease	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90153	"" []	3196883	\N	\N	EFO	5	EFO	genetic disorder	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:90153	"" []	3196884	\N	\N	EFO	5	EFO	bone disease	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:90153	"" []	3196885	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90153	"" []	6153021	\N	\N	EFO	8	EFO	disease	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90153	"" []	3196887	\N	\N	EFO	5	EFO	genetic disorder	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90153	"" []	3196888	\N	\N	EFO	5	EFO	endocrine system disease	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:90153	"" []	3196889	\N	\N	EFO	5	EFO	Genetic subcutaneous tissue disorder	Mandibuloacral dysplasia with type A lipodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90153	"" []	6410402	\N	\N	EFO	9	EFO	disposition	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:90153	"" []	4402445	\N	\N	EFO	6	EFO	skeletal system disease	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90153	"" []	4402447	\N	\N	EFO	6	EFO	disease	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:90153	"" []	4402448	\N	\N	EFO	6	EFO	Rare genetic skin disease	Mandibuloacral dysplasia with type A lipodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90153	"" []	6808201	\N	\N	EFO	10	EFO	material property	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90153	"" []	5418448	\N	\N	EFO	7	EFO	disease	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90153	"" []	5418449	\N	\N	EFO	7	EFO	genetic disorder	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90153	"" []	5418450	\N	\N	EFO	7	EFO	skin disease	Mandibuloacral dysplasia with type A lipodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90153	"" []	7048825	\N	\N	EFO	11	EFO	experimental factor	Mandibuloacral dysplasia with type A lipodystrophy
Orphanet:90154	\N	\N	"" []	Orphanet:90154	"" []	78345	\N	\N	EFO	0	EFO	Mandibuloacral dysplasia with type B lipodystrophy	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:2457	Orphanet:90154	\N	"" []	Orphanet:90154	"" []	223074	\N	\N	EFO	1	EFO	Mandibuloacral dysplasia	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:330206	Orphanet:2457	\N	"" []	Orphanet:90154	"" []	579472	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:363245	Orphanet:2457	\N	"" []	Orphanet:90154	"" []	579473	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:93449	Orphanet:2457	\N	"" []	Orphanet:90154	"" []	579474	\N	\N	EFO	2	EFO	Primary osteolysis	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:98306	Orphanet:2457	\N	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	Orphanet:90154	"" []	579475	\N	\N	EFO	2	EFO	Familial partial lipodystrophy	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:90154	"" []	1163164	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:90154	"" []	1163165	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:90154	"" []	1163166	\N	\N	EFO	3	EFO	Primary bone dysplasia	Mandibuloacral dysplasia with type B lipodystrophy
EFO:1000727	Orphanet:98306	\N	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	Orphanet:90154	"" []	1163167	\N	\N	EFO	3	EFO	lipodystrophy	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:98305	Orphanet:98306	\N	"" []	Orphanet:90154	"" []	1163168	\N	\N	EFO	3	EFO	Genetic lipodystrophy	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:90154	"" []	2046848	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90154	"" []	4402451	\N	\N	EFO	6	EFO	genetic disorder	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:90154	"" []	2046850	\N	\N	EFO	4	EFO	Rare genetic bone disease	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:90154	"" []	2046851	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0000701	EFO:1000727	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90154	"" []	2046852	\N	\N	EFO	4	EFO	skin disease	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:90154	"" []	2046853	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:90154	"" []	2046854	\N	\N	EFO	4	EFO	Primary lipodystrophy	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90154	"" []	6153023	\N	\N	EFO	8	EFO	disease	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90154	"" []	3196892	\N	\N	EFO	5	EFO	genetic disorder	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:90154	"" []	3196893	\N	\N	EFO	5	EFO	bone disease	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:90154	"" []	3196894	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90154	"" []	6153024	\N	\N	EFO	8	EFO	disease	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90154	"" []	3196896	\N	\N	EFO	5	EFO	genetic disorder	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90154	"" []	3196897	\N	\N	EFO	5	EFO	endocrine system disease	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:90154	"" []	3196898	\N	\N	EFO	5	EFO	Genetic subcutaneous tissue disorder	Mandibuloacral dysplasia with type B lipodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90154	"" []	6410403	\N	\N	EFO	9	EFO	disposition	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:90154	"" []	4402450	\N	\N	EFO	6	EFO	skeletal system disease	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90154	"" []	4402452	\N	\N	EFO	6	EFO	disease	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:90154	"" []	4402453	\N	\N	EFO	6	EFO	Rare genetic skin disease	Mandibuloacral dysplasia with type B lipodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90154	"" []	6808202	\N	\N	EFO	10	EFO	material property	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90154	"" []	5418452	\N	\N	EFO	7	EFO	disease	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90154	"" []	5418453	\N	\N	EFO	7	EFO	genetic disorder	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90154	"" []	5418454	\N	\N	EFO	7	EFO	skin disease	Mandibuloacral dysplasia with type B lipodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90154	"" []	7048826	\N	\N	EFO	11	EFO	experimental factor	Mandibuloacral dysplasia with type B lipodystrophy
Orphanet:90185	\N	\N	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	Orphanet:90185	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	78346	\N	\N	EFO	0	EFO	Non-hereditary late-onset primary lymphedema	Non-hereditary late-onset primary lymphedema
Orphanet:289825	Orphanet:90185	\N	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	Orphanet:90185	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	223075	\N	\N	EFO	1	EFO	Late-onset primary lymphedema	Non-hereditary late-onset primary lymphedema
Orphanet:77240	Orphanet:289825	\N	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	Orphanet:90185	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	579476	\N	\N	EFO	2	EFO	Primary lymphedema	Non-hereditary late-onset primary lymphedema
Orphanet:79383	Orphanet:77240	\N	"" []	Orphanet:90185	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	1163169	\N	\N	EFO	3	EFO	Lymphedema	Non-hereditary late-onset primary lymphedema
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:90185	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	2046855	\N	\N	EFO	4	EFO	Rare genetic skin disease	Non-hereditary late-onset primary lymphedema
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90185	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	3196899	\N	\N	EFO	5	EFO	genetic disorder	Non-hereditary late-onset primary lymphedema
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90185	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	3196900	\N	\N	EFO	5	EFO	skin disease	Non-hereditary late-onset primary lymphedema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90185	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	4402454	\N	\N	EFO	6	EFO	disease	Non-hereditary late-onset primary lymphedema
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90185	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	4402455	\N	\N	EFO	6	EFO	disease	Non-hereditary late-onset primary lymphedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90185	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	5418455	\N	\N	EFO	7	EFO	disposition	Non-hereditary late-onset primary lymphedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90185	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	6153025	\N	\N	EFO	8	EFO	material property	Non-hereditary late-onset primary lymphedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90185	"Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." []	6634245	\N	\N	EFO	9	EFO	experimental factor	Non-hereditary late-onset primary lymphedema
Orphanet:90186	\N	\N	"" []	Orphanet:90186	"" []	78347	\N	\N	EFO	0	EFO	Meige disease	Meige disease
Orphanet:289825	Orphanet:90186	\N	"Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." []	Orphanet:90186	"" []	223076	\N	\N	EFO	1	EFO	Late-onset primary lymphedema	Meige disease
Orphanet:77240	Orphanet:289825	\N	"Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." []	Orphanet:90186	"" []	579477	\N	\N	EFO	2	EFO	Primary lymphedema	Meige disease
Orphanet:79383	Orphanet:77240	\N	"" []	Orphanet:90186	"" []	1163170	\N	\N	EFO	3	EFO	Lymphedema	Meige disease
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:90186	"" []	2046856	\N	\N	EFO	4	EFO	Rare genetic skin disease	Meige disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90186	"" []	3196901	\N	\N	EFO	5	EFO	genetic disorder	Meige disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90186	"" []	3196902	\N	\N	EFO	5	EFO	skin disease	Meige disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90186	"" []	4402456	\N	\N	EFO	6	EFO	disease	Meige disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90186	"" []	4402457	\N	\N	EFO	6	EFO	disease	Meige disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90186	"" []	5418456	\N	\N	EFO	7	EFO	disposition	Meige disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90186	"" []	6153026	\N	\N	EFO	8	EFO	material property	Meige disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90186	"" []	6634246	\N	\N	EFO	9	EFO	experimental factor	Meige disease
Orphanet:902	\N	\N	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	78348	\N	\N	EFO	0	EFO	Werner syndrome	Werner syndrome
Orphanet:139027	Orphanet:902	\N	"" []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	223077	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Werner syndrome
Orphanet:183422	Orphanet:902	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	223078	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Werner syndrome
Orphanet:222628	Orphanet:902	\N	"" []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	223079	\N	\N	EFO	1	EFO	Hereditary poikiloderma	Werner syndrome
Orphanet:363245	Orphanet:902	\N	"" []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	223080	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Werner syndrome
Orphanet:79389	Orphanet:902	\N	"" []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	223081	\N	\N	EFO	1	EFO	Premature aging	Werner syndrome
Orphanet:98709	Orphanet:902	\N	"" []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	223082	\N	\N	EFO	1	EFO	Ectodermal malformation syndrome associated with ocular features	Werner syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	579478	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Werner syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	579479	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Werner syndrome
Orphanet:183426	Orphanet:222628	\N	"" []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	579480	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Werner syndrome
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	579481	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Werner syndrome
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	579482	\N	\N	EFO	2	EFO	Rare genetic skin disease	Werner syndrome
Orphanet:101435	Orphanet:98709	\N	"" []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	579483	\N	\N	EFO	2	EFO	Rare genetic eye disease	Werner syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	1163171	\N	\N	EFO	3	EFO	genetic disorder	Werner syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	1163172	\N	\N	EFO	3	EFO	genetic disorder	Werner syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	1163173	\N	\N	EFO	3	EFO	Rare genetic skin disease	Werner syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	2046858	\N	\N	EFO	4	EFO	genetic disorder	Werner syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	2046859	\N	\N	EFO	4	EFO	skin disease	Werner syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	1163176	\N	\N	EFO	3	EFO	genetic disorder	Werner syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	1163177	\N	\N	EFO	3	EFO	eye disease	Werner syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	3000478	\N	\N	EFO	5	EFO	disease	Werner syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	3000479	\N	\N	EFO	5	EFO	disease	Werner syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	2046861	\N	\N	EFO	4	EFO	disease	Werner syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	4134444	\N	\N	EFO	6	EFO	disposition	Werner syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	5183524	\N	\N	EFO	7	EFO	material property	Werner syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:902	"Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." []	5998844	\N	\N	EFO	8	EFO	experimental factor	Werner syndrome
Orphanet:90280	\N	\N	"" []	Orphanet:90280	"" []	78349	\N	\N	EFO	0	EFO	Chilblain lupus	Chilblain lupus
Orphanet:183478	Orphanet:90280	\N	"" []	Orphanet:90280	"" []	223083	\N	\N	EFO	1	EFO	Genetic skin vascular disorder	Chilblain lupus
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:90280	"" []	579484	\N	\N	EFO	2	EFO	Genetic dermis disorder	Chilblain lupus
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:90280	"" []	1163178	\N	\N	EFO	3	EFO	Rare genetic skin disease	Chilblain lupus
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90280	"" []	2046862	\N	\N	EFO	4	EFO	genetic disorder	Chilblain lupus
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90280	"" []	2046863	\N	\N	EFO	4	EFO	skin disease	Chilblain lupus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90280	"" []	3196904	\N	\N	EFO	5	EFO	disease	Chilblain lupus
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90280	"" []	3196905	\N	\N	EFO	5	EFO	disease	Chilblain lupus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90280	"" []	4402459	\N	\N	EFO	6	EFO	disposition	Chilblain lupus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90280	"" []	5418458	\N	\N	EFO	7	EFO	material property	Chilblain lupus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90280	"" []	6153027	\N	\N	EFO	8	EFO	experimental factor	Chilblain lupus
Orphanet:903	\N	\N	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	Orphanet:903	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	78350	\N	\N	EFO	0	EFO	Von Willebrand disease	Von Willebrand disease
Orphanet:68334	Orphanet:903	\N	"" []	Orphanet:903	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	223084	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Von Willebrand disease
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:903	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	579485	\N	\N	EFO	2	EFO	Rare genetic coagulation disorder	Von Willebrand disease
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:903	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	1163179	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Von Willebrand disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:903	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	2046864	\N	\N	EFO	4	EFO	genetic disorder	Von Willebrand disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:903	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	2046865	\N	\N	EFO	4	EFO	hematological system disease	Von Willebrand disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:903	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	3196906	\N	\N	EFO	5	EFO	disease	Von Willebrand disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:903	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	3196907	\N	\N	EFO	5	EFO	disease	Von Willebrand disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:903	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	4402460	\N	\N	EFO	6	EFO	disposition	Von Willebrand disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:903	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	5418459	\N	\N	EFO	7	EFO	material property	Von Willebrand disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:903	"von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." []	6153028	\N	\N	EFO	8	EFO	experimental factor	Von Willebrand disease
Orphanet:90301	\N	\N	"" []	Orphanet:90301	"" []	78351	\N	\N	EFO	0	EFO	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
Orphanet:181368	Orphanet:90301	\N	"" []	Orphanet:90301	"" []	223085	\N	\N	EFO	1	EFO	Rare insulin-resistance syndrome	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
Orphanet:79360	Orphanet:90301	\N	"" []	Orphanet:90301	"" []	223086	\N	\N	EFO	1	EFO	Other genetic epidermal disease	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
Orphanet:183625	Orphanet:181368	\N	"" []	Orphanet:90301	"" []	579486	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
Orphanet:183426	Orphanet:79360	\N	"" []	Orphanet:90301	"" []	579487	\N	\N	EFO	2	EFO	Genetic epidermal disorder	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:90301	"" []	1163180	\N	\N	EFO	3	EFO	diabetes mellitus	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:90301	"" []	1163181	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:90301	"" []	1163182	\N	\N	EFO	3	EFO	Rare genetic skin disease	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:90301	"" []	2046866	\N	\N	EFO	4	EFO	metabolic disease	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90301	"" []	2046867	\N	\N	EFO	4	EFO	genetic disorder	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90301	"" []	2046868	\N	\N	EFO	4	EFO	endocrine system disease	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90301	"" []	2046869	\N	\N	EFO	4	EFO	genetic disorder	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90301	"" []	2046870	\N	\N	EFO	4	EFO	skin disease	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90301	"" []	3196908	\N	\N	EFO	5	EFO	disease	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90301	"" []	3196909	\N	\N	EFO	5	EFO	disease	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90301	"" []	3196910	\N	\N	EFO	5	EFO	disease	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90301	"" []	3196911	\N	\N	EFO	5	EFO	disease	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90301	"" []	4402461	\N	\N	EFO	6	EFO	disposition	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90301	"" []	5418460	\N	\N	EFO	7	EFO	material property	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90301	"" []	6153029	\N	\N	EFO	8	EFO	experimental factor	Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
Orphanet:90307	\N	\N	"" []	Orphanet:90307	"" []	78352	\N	\N	EFO	0	EFO	Parkes Weber syndrome	Parkes Weber syndrome
Orphanet:2346	Orphanet:90307	\N	"" []	Orphanet:90307	"" []	223087	\N	\N	EFO	1	EFO	Angioosteohypertrophic syndrome	Parkes Weber syndrome
Orphanet:183478	Orphanet:2346	\N	"" []	Orphanet:90307	"" []	579488	\N	\N	EFO	2	EFO	Genetic skin vascular disorder	Parkes Weber syndrome
Orphanet:211240	Orphanet:2346	\N	"" []	Orphanet:90307	"" []	579489	\N	\N	EFO	2	EFO	Genetic vascular anomaly	Parkes Weber syndrome
Orphanet:235832	Orphanet:2346	\N	"" []	Orphanet:90307	"" []	579490	\N	\N	EFO	2	EFO	Congenital vascular bone syndrome	Parkes Weber syndrome
Orphanet:93460	Orphanet:2346	\N	"" []	Orphanet:90307	"" []	579491	\N	\N	EFO	2	EFO	Overgrowth syndrome	Parkes Weber syndrome
Orphanet:98196	Orphanet:2346	\N	"" []	Orphanet:90307	"" []	579492	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	Parkes Weber syndrome
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:90307	"" []	1163183	\N	\N	EFO	3	EFO	Genetic dermis disorder	Parkes Weber syndrome
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:90307	"" []	1163184	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Parkes Weber syndrome
Orphanet:183524	Orphanet:235832	\N	"" []	Orphanet:90307	"" []	1163185	\N	\N	EFO	3	EFO	Rare genetic bone disease	Parkes Weber syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:90307	"" []	1163186	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Parkes Weber syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:90307	"" []	1163187	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Parkes Weber syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:90307	"" []	2046871	\N	\N	EFO	4	EFO	Rare genetic skin disease	Parkes Weber syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90307	"" []	3196916	\N	\N	EFO	5	EFO	genetic disorder	Parkes Weber syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90307	"" []	2046873	\N	\N	EFO	4	EFO	genetic disorder	Parkes Weber syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:90307	"" []	2046874	\N	\N	EFO	4	EFO	bone disease	Parkes Weber syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:90307	"" []	2046875	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Parkes Weber syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90307	"" []	3196912	\N	\N	EFO	5	EFO	genetic disorder	Parkes Weber syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90307	"" []	3196913	\N	\N	EFO	5	EFO	skin disease	Parkes Weber syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90307	"" []	4134445	\N	\N	EFO	6	EFO	disease	Parkes Weber syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:90307	"" []	3196915	\N	\N	EFO	5	EFO	skeletal system disease	Parkes Weber syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90307	"" []	4402462	\N	\N	EFO	6	EFO	disease	Parkes Weber syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90307	"" []	5183525	\N	\N	EFO	7	EFO	disposition	Parkes Weber syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90307	"" []	4402464	\N	\N	EFO	6	EFO	disease	Parkes Weber syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90307	"" []	5998845	\N	\N	EFO	8	EFO	material property	Parkes Weber syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90307	"" []	6551860	\N	\N	EFO	9	EFO	experimental factor	Parkes Weber syndrome
Orphanet:90308	\N	\N	"" []	Orphanet:90308	"" []	78353	\N	\N	EFO	0	EFO	Klippel-Trnaunay syndrome	Klippel-Trnaunay syndrome
Orphanet:2346	Orphanet:90308	\N	"" []	Orphanet:90308	"" []	223088	\N	\N	EFO	1	EFO	Angioosteohypertrophic syndrome	Klippel-Trnaunay syndrome
Orphanet:183478	Orphanet:2346	\N	"" []	Orphanet:90308	"" []	579493	\N	\N	EFO	2	EFO	Genetic skin vascular disorder	Klippel-Trnaunay syndrome
Orphanet:211240	Orphanet:2346	\N	"" []	Orphanet:90308	"" []	579494	\N	\N	EFO	2	EFO	Genetic vascular anomaly	Klippel-Trnaunay syndrome
Orphanet:235832	Orphanet:2346	\N	"" []	Orphanet:90308	"" []	579495	\N	\N	EFO	2	EFO	Congenital vascular bone syndrome	Klippel-Trnaunay syndrome
Orphanet:93460	Orphanet:2346	\N	"" []	Orphanet:90308	"" []	579496	\N	\N	EFO	2	EFO	Overgrowth syndrome	Klippel-Trnaunay syndrome
Orphanet:98196	Orphanet:2346	\N	"" []	Orphanet:90308	"" []	579497	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	Klippel-Trnaunay syndrome
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:90308	"" []	1163188	\N	\N	EFO	3	EFO	Genetic dermis disorder	Klippel-Trnaunay syndrome
Orphanet:183530	Orphanet:211240	\N	"" []	Orphanet:90308	"" []	1163189	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Klippel-Trnaunay syndrome
Orphanet:183524	Orphanet:235832	\N	"" []	Orphanet:90308	"" []	1163190	\N	\N	EFO	3	EFO	Rare genetic bone disease	Klippel-Trnaunay syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:90308	"" []	1163191	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Klippel-Trnaunay syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:90308	"" []	1163192	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Klippel-Trnaunay syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:90308	"" []	2046876	\N	\N	EFO	4	EFO	Rare genetic skin disease	Klippel-Trnaunay syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90308	"" []	3196921	\N	\N	EFO	5	EFO	genetic disorder	Klippel-Trnaunay syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90308	"" []	2046878	\N	\N	EFO	4	EFO	genetic disorder	Klippel-Trnaunay syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:90308	"" []	2046879	\N	\N	EFO	4	EFO	bone disease	Klippel-Trnaunay syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:90308	"" []	2046880	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Klippel-Trnaunay syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90308	"" []	3196917	\N	\N	EFO	5	EFO	genetic disorder	Klippel-Trnaunay syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90308	"" []	3196918	\N	\N	EFO	5	EFO	skin disease	Klippel-Trnaunay syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90308	"" []	4134446	\N	\N	EFO	6	EFO	disease	Klippel-Trnaunay syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:90308	"" []	3196920	\N	\N	EFO	5	EFO	skeletal system disease	Klippel-Trnaunay syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90308	"" []	4402465	\N	\N	EFO	6	EFO	disease	Klippel-Trnaunay syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90308	"" []	5183526	\N	\N	EFO	7	EFO	disposition	Klippel-Trnaunay syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90308	"" []	4402467	\N	\N	EFO	6	EFO	disease	Klippel-Trnaunay syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90308	"" []	5998846	\N	\N	EFO	8	EFO	material property	Klippel-Trnaunay syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90308	"" []	6551861	\N	\N	EFO	9	EFO	experimental factor	Klippel-Trnaunay syndrome
Orphanet:90309	\N	\N	"" []	Orphanet:90309	"" []	78354	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome type 1	Ehlers-Danlos syndrome type 1
Orphanet:287	Orphanet:90309	\N	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	Orphanet:90309	"" []	223089	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome, classic type	Ehlers-Danlos syndrome type 1
Orphanet:167762	Orphanet:287	\N	"" []	Orphanet:90309	"" []	579498	\N	\N	EFO	2	EFO	Rare disease with dentinogenesis imperfecta	Ehlers-Danlos syndrome type 1
Orphanet:98249	Orphanet:287	\N	"" []	Orphanet:90309	"" []	579499	\N	\N	EFO	2	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome type 1
Orphanet:77830	Orphanet:167762	\N	"" []	Orphanet:90309	"" []	1163193	\N	\N	EFO	3	EFO	Rare genetic odontologic disease	Ehlers-Danlos syndrome type 1
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:90309	"" []	1163194	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome type 1
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:90309	"" []	1163195	\N	\N	EFO	3	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome type 1
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:90309	"" []	1163196	\N	\N	EFO	3	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome type 1
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:90309	"" []	1163197	\N	\N	EFO	3	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome type 1
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90309	"" []	2046881	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome type 1
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:90309	"" []	2046882	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome type 1
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:90309	"" []	2046883	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome type 1
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:90309	"" []	2046884	\N	\N	EFO	4	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome type 1
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90309	"" []	2046885	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90309	"" []	5418464	\N	\N	EFO	7	EFO	disease	Ehlers-Danlos syndrome type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90309	"" []	3196923	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome type 1
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:90309	"" []	3196924	\N	\N	EFO	5	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90309	"" []	5877818	\N	\N	EFO	8	EFO	disposition	Ehlers-Danlos syndrome type 1
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90309	"" []	4402470	\N	\N	EFO	6	EFO	genetic disorder	Ehlers-Danlos syndrome type 1
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90309	"" []	4402471	\N	\N	EFO	6	EFO	skin disease	Ehlers-Danlos syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90309	"" []	6471034	\N	\N	EFO	9	EFO	material property	Ehlers-Danlos syndrome type 1
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90309	"" []	5418465	\N	\N	EFO	7	EFO	disease	Ehlers-Danlos syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90309	"" []	6848853	\N	\N	EFO	10	EFO	experimental factor	Ehlers-Danlos syndrome type 1
Orphanet:90318	\N	\N	"" []	Orphanet:90318	"" []	78355	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome type 2	Ehlers-Danlos syndrome type 2
Orphanet:287	Orphanet:90318	\N	"Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." []	Orphanet:90318	"" []	223090	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome, classic type	Ehlers-Danlos syndrome type 2
Orphanet:167762	Orphanet:287	\N	"" []	Orphanet:90318	"" []	579500	\N	\N	EFO	2	EFO	Rare disease with dentinogenesis imperfecta	Ehlers-Danlos syndrome type 2
Orphanet:98249	Orphanet:287	\N	"" []	Orphanet:90318	"" []	579501	\N	\N	EFO	2	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome type 2
Orphanet:77830	Orphanet:167762	\N	"" []	Orphanet:90318	"" []	1163198	\N	\N	EFO	3	EFO	Rare genetic odontologic disease	Ehlers-Danlos syndrome type 2
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:90318	"" []	1163199	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome type 2
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:90318	"" []	1163200	\N	\N	EFO	3	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome type 2
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:90318	"" []	1163201	\N	\N	EFO	3	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome type 2
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:90318	"" []	1163202	\N	\N	EFO	3	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome type 2
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90318	"" []	2046886	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome type 2
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:90318	"" []	2046887	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome type 2
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:90318	"" []	2046888	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome type 2
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:90318	"" []	2046889	\N	\N	EFO	4	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome type 2
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90318	"" []	2046890	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90318	"" []	5418467	\N	\N	EFO	7	EFO	disease	Ehlers-Danlos syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90318	"" []	3196926	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome type 2
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:90318	"" []	3196927	\N	\N	EFO	5	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90318	"" []	5877819	\N	\N	EFO	8	EFO	disposition	Ehlers-Danlos syndrome type 2
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90318	"" []	4402474	\N	\N	EFO	6	EFO	genetic disorder	Ehlers-Danlos syndrome type 2
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90318	"" []	4402475	\N	\N	EFO	6	EFO	skin disease	Ehlers-Danlos syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90318	"" []	6471035	\N	\N	EFO	9	EFO	material property	Ehlers-Danlos syndrome type 2
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90318	"" []	5418468	\N	\N	EFO	7	EFO	disease	Ehlers-Danlos syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90318	"" []	6848854	\N	\N	EFO	10	EFO	experimental factor	Ehlers-Danlos syndrome type 2
Orphanet:90321	\N	\N	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	78356	\N	\N	EFO	0	EFO	Cockayne syndrome type 1	Cockayne syndrome type 1
Orphanet:191	Orphanet:90321	\N	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	223091	\N	\N	EFO	1	EFO	Cockayne syndrome	Cockayne syndrome type 1
Orphanet:139027	Orphanet:191	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	579502	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Cockayne syndrome type 1
Orphanet:183422	Orphanet:191	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	579503	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Cockayne syndrome type 1
Orphanet:183500	Orphanet:191	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	579504	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Cockayne syndrome type 1
Orphanet:183763	Orphanet:191	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	579505	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Cockayne syndrome type 1
Orphanet:363245	Orphanet:191	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	579506	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Cockayne syndrome type 1
Orphanet:79389	Orphanet:191	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	579507	\N	\N	EFO	2	EFO	Premature aging	Cockayne syndrome type 1
Orphanet:90642	Orphanet:191	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	579508	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Cockayne syndrome type 1
Orphanet:98661	Orphanet:191	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	579509	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	Cockayne syndrome type 1
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	1163203	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cockayne syndrome type 1
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	1163204	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Cockayne syndrome type 1
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	1163205	\N	\N	EFO	3	EFO	neurodegenerative disease	Cockayne syndrome type 1
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	1163206	\N	\N	EFO	3	EFO	brain disease	Cockayne syndrome type 1
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	1163207	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cockayne syndrome type 1
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	1163208	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Cockayne syndrome type 1
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	1163209	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cockayne syndrome type 1
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	1163210	\N	\N	EFO	3	EFO	Rare genetic skin disease	Cockayne syndrome type 1
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	1163211	\N	\N	EFO	3	EFO	Rare genetic deafness	Cockayne syndrome type 1
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	1163212	\N	\N	EFO	3	EFO	Retinal dystrophy	Cockayne syndrome type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	2046891	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome type 1
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	2046892	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome type 1
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	2046893	\N	\N	EFO	4	EFO	nervous system disease	Cockayne syndrome type 1
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	2046894	\N	\N	EFO	4	EFO	nervous system disease	Cockayne syndrome type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	3196930	\N	\N	EFO	5	EFO	genetic disorder	Cockayne syndrome type 1
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	2046896	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cockayne syndrome type 1
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	2046897	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome type 1
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	2046898	\N	\N	EFO	4	EFO	skin disease	Cockayne syndrome type 1
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	2046899	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome type 1
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	2046900	\N	\N	EFO	4	EFO	auditory system disease	Cockayne syndrome type 1
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	2046901	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Cockayne syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	5418471	\N	\N	EFO	7	EFO	disease	Cockayne syndrome type 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	5418470	\N	\N	EFO	7	EFO	disease	Cockayne syndrome type 1
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	3196931	\N	\N	EFO	5	EFO	disease	Cockayne syndrome type 1
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	3196932	\N	\N	EFO	5	EFO	sensory system disease	Cockayne syndrome type 1
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	3196933	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cockayne syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	5877820	\N	\N	EFO	8	EFO	disposition	Cockayne syndrome type 1
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	4402477	\N	\N	EFO	6	EFO	nervous system disease	Cockayne syndrome type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	4402478	\N	\N	EFO	6	EFO	genetic disorder	Cockayne syndrome type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	4402479	\N	\N	EFO	6	EFO	eye disease	Cockayne syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	6471036	\N	\N	EFO	9	EFO	material property	Cockayne syndrome type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	5418472	\N	\N	EFO	7	EFO	disease	Cockayne syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90321	"Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration." []	6848855	\N	\N	EFO	10	EFO	experimental factor	Cockayne syndrome type 1
Orphanet:90322	\N	\N	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	78357	\N	\N	EFO	0	EFO	Cockayne syndrome type 2	Cockayne syndrome type 2
Orphanet:191	Orphanet:90322	\N	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	223092	\N	\N	EFO	1	EFO	Cockayne syndrome	Cockayne syndrome type 2
Orphanet:139027	Orphanet:191	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	579510	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Cockayne syndrome type 2
Orphanet:183422	Orphanet:191	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	579511	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Cockayne syndrome type 2
Orphanet:183500	Orphanet:191	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	579512	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Cockayne syndrome type 2
Orphanet:183763	Orphanet:191	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	579513	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Cockayne syndrome type 2
Orphanet:363245	Orphanet:191	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	579514	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Cockayne syndrome type 2
Orphanet:79389	Orphanet:191	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	579515	\N	\N	EFO	2	EFO	Premature aging	Cockayne syndrome type 2
Orphanet:90642	Orphanet:191	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	579516	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Cockayne syndrome type 2
Orphanet:98661	Orphanet:191	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	579517	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	Cockayne syndrome type 2
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	1163213	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cockayne syndrome type 2
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	1163214	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Cockayne syndrome type 2
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	1163215	\N	\N	EFO	3	EFO	neurodegenerative disease	Cockayne syndrome type 2
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	1163216	\N	\N	EFO	3	EFO	brain disease	Cockayne syndrome type 2
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	1163217	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cockayne syndrome type 2
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	1163218	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Cockayne syndrome type 2
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	1163219	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cockayne syndrome type 2
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	1163220	\N	\N	EFO	3	EFO	Rare genetic skin disease	Cockayne syndrome type 2
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	1163221	\N	\N	EFO	3	EFO	Rare genetic deafness	Cockayne syndrome type 2
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	1163222	\N	\N	EFO	3	EFO	Retinal dystrophy	Cockayne syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	2046902	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome type 2
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	2046903	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome type 2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	2046904	\N	\N	EFO	4	EFO	nervous system disease	Cockayne syndrome type 2
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	2046905	\N	\N	EFO	4	EFO	nervous system disease	Cockayne syndrome type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	3196936	\N	\N	EFO	5	EFO	genetic disorder	Cockayne syndrome type 2
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	2046907	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cockayne syndrome type 2
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	2046908	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome type 2
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	2046909	\N	\N	EFO	4	EFO	skin disease	Cockayne syndrome type 2
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	2046910	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome type 2
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	2046911	\N	\N	EFO	4	EFO	auditory system disease	Cockayne syndrome type 2
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	2046912	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Cockayne syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	5418475	\N	\N	EFO	7	EFO	disease	Cockayne syndrome type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	5418474	\N	\N	EFO	7	EFO	disease	Cockayne syndrome type 2
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	3196937	\N	\N	EFO	5	EFO	disease	Cockayne syndrome type 2
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	3196938	\N	\N	EFO	5	EFO	sensory system disease	Cockayne syndrome type 2
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	3196939	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cockayne syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	5877821	\N	\N	EFO	8	EFO	disposition	Cockayne syndrome type 2
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	4402481	\N	\N	EFO	6	EFO	nervous system disease	Cockayne syndrome type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	4402482	\N	\N	EFO	6	EFO	genetic disorder	Cockayne syndrome type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	4402483	\N	\N	EFO	6	EFO	eye disease	Cockayne syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	6471037	\N	\N	EFO	9	EFO	material property	Cockayne syndrome type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	5418476	\N	\N	EFO	7	EFO	disease	Cockayne syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90322	"Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS." []	6848856	\N	\N	EFO	10	EFO	experimental factor	Cockayne syndrome type 2
Orphanet:90324	\N	\N	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	78358	\N	\N	EFO	0	EFO	Cockayne syndrome type 3	Cockayne syndrome type 3
Orphanet:191	Orphanet:90324	\N	"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	223093	\N	\N	EFO	1	EFO	Cockayne syndrome	Cockayne syndrome type 3
Orphanet:139027	Orphanet:191	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	579518	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Cockayne syndrome type 3
Orphanet:183422	Orphanet:191	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	579519	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Cockayne syndrome type 3
Orphanet:183500	Orphanet:191	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	579520	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Cockayne syndrome type 3
Orphanet:183763	Orphanet:191	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	579521	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Cockayne syndrome type 3
Orphanet:363245	Orphanet:191	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	579522	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Cockayne syndrome type 3
Orphanet:79389	Orphanet:191	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	579523	\N	\N	EFO	2	EFO	Premature aging	Cockayne syndrome type 3
Orphanet:90642	Orphanet:191	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	579524	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Cockayne syndrome type 3
Orphanet:98661	Orphanet:191	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	579525	\N	\N	EFO	2	EFO	Syndromic retinitis pigmentosa	Cockayne syndrome type 3
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	1163223	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cockayne syndrome type 3
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	1163224	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Cockayne syndrome type 3
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	1163225	\N	\N	EFO	3	EFO	neurodegenerative disease	Cockayne syndrome type 3
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	1163226	\N	\N	EFO	3	EFO	brain disease	Cockayne syndrome type 3
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	1163227	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cockayne syndrome type 3
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	1163228	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Cockayne syndrome type 3
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	1163229	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cockayne syndrome type 3
Orphanet:68346	Orphanet:79389	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	1163230	\N	\N	EFO	3	EFO	Rare genetic skin disease	Cockayne syndrome type 3
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	1163231	\N	\N	EFO	3	EFO	Rare genetic deafness	Cockayne syndrome type 3
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	1163232	\N	\N	EFO	3	EFO	Retinal dystrophy	Cockayne syndrome type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	2046913	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome type 3
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	2046914	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome type 3
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	2046915	\N	\N	EFO	4	EFO	nervous system disease	Cockayne syndrome type 3
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	2046916	\N	\N	EFO	4	EFO	nervous system disease	Cockayne syndrome type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	3196942	\N	\N	EFO	5	EFO	genetic disorder	Cockayne syndrome type 3
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	2046918	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cockayne syndrome type 3
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	2046919	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome type 3
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	2046920	\N	\N	EFO	4	EFO	skin disease	Cockayne syndrome type 3
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	2046921	\N	\N	EFO	4	EFO	genetic disorder	Cockayne syndrome type 3
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	2046922	\N	\N	EFO	4	EFO	auditory system disease	Cockayne syndrome type 3
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	2046923	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Cockayne syndrome type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	5418479	\N	\N	EFO	7	EFO	disease	Cockayne syndrome type 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	5418478	\N	\N	EFO	7	EFO	disease	Cockayne syndrome type 3
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	3196943	\N	\N	EFO	5	EFO	disease	Cockayne syndrome type 3
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	3196944	\N	\N	EFO	5	EFO	sensory system disease	Cockayne syndrome type 3
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	3196945	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cockayne syndrome type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	5877822	\N	\N	EFO	8	EFO	disposition	Cockayne syndrome type 3
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	4402485	\N	\N	EFO	6	EFO	nervous system disease	Cockayne syndrome type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	4402486	\N	\N	EFO	6	EFO	genetic disorder	Cockayne syndrome type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	4402487	\N	\N	EFO	6	EFO	eye disease	Cockayne syndrome type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	6471038	\N	\N	EFO	9	EFO	material property	Cockayne syndrome type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	5418480	\N	\N	EFO	7	EFO	disease	Cockayne syndrome type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90324	"Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development." []	6848857	\N	\N	EFO	10	EFO	experimental factor	Cockayne syndrome type 3
Orphanet:90339	\N	\N	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	78359	\N	\N	EFO	0	EFO	Rosselli-Gulienetti syndrome	Rosselli-Gulienetti syndrome
Orphanet:139039	Orphanet:90339	\N	"" []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	223094	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Rosselli-Gulienetti syndrome
Orphanet:320317	Orphanet:90339	\N	"" []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	223095	\N	\N	EFO	1	EFO	Cleft lip/palate - ectodermal dysplasia	Rosselli-Gulienetti syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	579526	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Rosselli-Gulienetti syndrome
Orphanet:79373	Orphanet:320317	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	579527	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Rosselli-Gulienetti syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	1163233	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Rosselli-Gulienetti syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	1163234	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Rosselli-Gulienetti syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	1163235	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Rosselli-Gulienetti syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	2046924	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Rosselli-Gulienetti syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	2046925	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Rosselli-Gulienetti syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	2046926	\N	\N	EFO	4	EFO	Rare genetic skin disease	Rosselli-Gulienetti syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	3196946	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Rosselli-Gulienetti syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	4402488	\N	\N	EFO	6	EFO	genetic disorder	Rosselli-Gulienetti syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	3196948	\N	\N	EFO	5	EFO	genetic disorder	Rosselli-Gulienetti syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	3196949	\N	\N	EFO	5	EFO	skin disease	Rosselli-Gulienetti syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	5183532	\N	\N	EFO	7	EFO	disease	Rosselli-Gulienetti syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	4402490	\N	\N	EFO	6	EFO	disease	Rosselli-Gulienetti syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	5998852	\N	\N	EFO	8	EFO	disposition	Rosselli-Gulienetti syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	6551867	\N	\N	EFO	9	EFO	material property	Rosselli-Gulienetti syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90339	"Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." []	6889556	\N	\N	EFO	10	EFO	experimental factor	Rosselli-Gulienetti syndrome
Orphanet:90340	\N	\N	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	78360	\N	\N	EFO	0	EFO	Blau syndrome	Blau syndrome
Orphanet:183472	Orphanet:90340	\N	"" []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	223096	\N	\N	EFO	1	EFO	Genetic dermis disorder	Blau syndrome
Orphanet:290839	Orphanet:90340	\N	"" []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	223097	\N	\N	EFO	1	EFO	Autoinflammatory syndrome with immune deficiency	Blau syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	579528	\N	\N	EFO	2	EFO	Rare genetic skin disease	Blau syndrome
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	579529	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Blau syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	1163236	\N	\N	EFO	3	EFO	genetic disorder	Blau syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	1163237	\N	\N	EFO	3	EFO	skin disease	Blau syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	1163238	\N	\N	EFO	3	EFO	Primary immunodeficiency	Blau syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	4402492	\N	\N	EFO	6	EFO	disease	Blau syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	2046928	\N	\N	EFO	4	EFO	disease	Blau syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	2046929	\N	\N	EFO	4	EFO	Rare genetic immune disease	Blau syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	5060309	\N	\N	EFO	7	EFO	disposition	Blau syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	3196951	\N	\N	EFO	5	EFO	genetic disorder	Blau syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	3196952	\N	\N	EFO	5	EFO	immune system disease	Blau syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	5877823	\N	\N	EFO	8	EFO	material property	Blau syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	4402493	\N	\N	EFO	6	EFO	disease	Blau syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90340	"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." []	6471039	\N	\N	EFO	9	EFO	experimental factor	Blau syndrome
Orphanet:90342	\N	\N	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	78361	\N	\N	EFO	0	EFO	Xeroderma pigmentosum variant	Xeroderma pigmentosum variant
Orphanet:910	Orphanet:90342	\N	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	223098	\N	\N	EFO	1	EFO	Xeroderma pigmentosum	Xeroderma pigmentosum variant
Orphanet:139027	Orphanet:910	\N	"" []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	579530	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum variant
Orphanet:183422	Orphanet:910	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	579531	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum variant
Orphanet:183490	Orphanet:910	\N	"" []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	579532	\N	\N	EFO	2	EFO	Genetic photodermatosis	Xeroderma pigmentosum variant
Orphanet:363245	Orphanet:910	\N	"" []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	579533	\N	\N	EFO	2	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum variant
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	1163239	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum variant
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	1163240	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Xeroderma pigmentosum variant
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	1163241	\N	\N	EFO	3	EFO	Rare genetic skin disease	Xeroderma pigmentosum variant
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	1163242	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum variant
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	2046930	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum variant
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	2046931	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum variant
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	2046932	\N	\N	EFO	4	EFO	genetic disorder	Xeroderma pigmentosum variant
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	2046933	\N	\N	EFO	4	EFO	skin disease	Xeroderma pigmentosum variant
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	3196953	\N	\N	EFO	5	EFO	disease	Xeroderma pigmentosum variant
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	3196954	\N	\N	EFO	5	EFO	disease	Xeroderma pigmentosum variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	4402494	\N	\N	EFO	6	EFO	disposition	Xeroderma pigmentosum variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	5418483	\N	\N	EFO	7	EFO	material property	Xeroderma pigmentosum variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90342	"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." []	6153038	\N	\N	EFO	8	EFO	experimental factor	Xeroderma pigmentosum variant
Orphanet:90348	\N	\N	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	78362	\N	\N	EFO	0	EFO	Autosomal dominant cutis laxa	Autosomal dominant cutis laxa
Orphanet:209	Orphanet:90348	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	223099	\N	\N	EFO	1	EFO	Cutis laxa	Autosomal dominant cutis laxa
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	579534	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Autosomal dominant cutis laxa
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	579535	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Autosomal dominant cutis laxa
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	579536	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Autosomal dominant cutis laxa
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	579537	\N	\N	EFO	2	EFO	Congenital entropion	Autosomal dominant cutis laxa
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	1163243	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant cutis laxa
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	1163244	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant cutis laxa
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	1163245	\N	\N	EFO	3	EFO	Genetic dermis disorder	Autosomal dominant cutis laxa
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	1163246	\N	\N	EFO	3	EFO	Eyelids malposition disorder	Autosomal dominant cutis laxa
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	2046934	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant cutis laxa
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	2046935	\N	\N	EFO	4	EFO	Rare genetic skin disease	Autosomal dominant cutis laxa
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	2046936	\N	\N	EFO	4	EFO	Rare palpebral disease	Autosomal dominant cutis laxa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	6153040	\N	\N	EFO	8	EFO	disease	Autosomal dominant cutis laxa
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	3196956	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant cutis laxa
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	3196957	\N	\N	EFO	5	EFO	skin disease	Autosomal dominant cutis laxa
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	3196958	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Autosomal dominant cutis laxa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	6410404	\N	\N	EFO	9	EFO	disposition	Autosomal dominant cutis laxa
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	4402497	\N	\N	EFO	6	EFO	disease	Autosomal dominant cutis laxa
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	4402498	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal dominant cutis laxa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	6808203	\N	\N	EFO	10	EFO	material property	Autosomal dominant cutis laxa
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	5418485	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant cutis laxa
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	5418486	\N	\N	EFO	7	EFO	eye disease	Autosomal dominant cutis laxa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	7048827	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant cutis laxa
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90348	"Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." []	6153041	\N	\N	EFO	8	EFO	disease	Autosomal dominant cutis laxa
Orphanet:90349	\N	\N	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	78363	\N	\N	EFO	0	EFO	Autosomal recessive cutis laxa type 1	Autosomal recessive cutis laxa type 1
Orphanet:209	Orphanet:90349	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	223100	\N	\N	EFO	1	EFO	Cutis laxa	Autosomal recessive cutis laxa type 1
Orphanet:285014	Orphanet:90349	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	223101	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Autosomal recessive cutis laxa type 1
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	579538	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Autosomal recessive cutis laxa type 1
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	579539	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Autosomal recessive cutis laxa type 1
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	579540	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Autosomal recessive cutis laxa type 1
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	579541	\N	\N	EFO	2	EFO	Congenital entropion	Autosomal recessive cutis laxa type 1
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	579542	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Autosomal recessive cutis laxa type 1
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	1163247	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 1
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	1163248	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 1
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	1163249	\N	\N	EFO	3	EFO	Genetic dermis disorder	Autosomal recessive cutis laxa type 1
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	1163250	\N	\N	EFO	3	EFO	Eyelids malposition disorder	Autosomal recessive cutis laxa type 1
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	1163251	\N	\N	EFO	3	EFO	genetic disorder	Autosomal recessive cutis laxa type 1
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	1163252	\N	\N	EFO	3	EFO	vascular disease	Autosomal recessive cutis laxa type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	2046937	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive cutis laxa type 1
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	2046938	\N	\N	EFO	4	EFO	Rare genetic skin disease	Autosomal recessive cutis laxa type 1
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	2046939	\N	\N	EFO	4	EFO	Rare palpebral disease	Autosomal recessive cutis laxa type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	6153042	\N	\N	EFO	8	EFO	disease	Autosomal recessive cutis laxa type 1
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	2046941	\N	\N	EFO	4	EFO	cardiovascular disease	Autosomal recessive cutis laxa type 1
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	3196960	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive cutis laxa type 1
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	3196961	\N	\N	EFO	5	EFO	skin disease	Autosomal recessive cutis laxa type 1
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	3196962	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Autosomal recessive cutis laxa type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	6379008	\N	\N	EFO	9	EFO	disposition	Autosomal recessive cutis laxa type 1
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	3196964	\N	\N	EFO	5	EFO	disease	Autosomal recessive cutis laxa type 1
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	4402500	\N	\N	EFO	6	EFO	disease	Autosomal recessive cutis laxa type 1
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	4402501	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive cutis laxa type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	6778849	\N	\N	EFO	10	EFO	material property	Autosomal recessive cutis laxa type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	5418487	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cutis laxa type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	5418488	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive cutis laxa type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	7030035	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive cutis laxa type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90349	"Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." []	6153043	\N	\N	EFO	8	EFO	disease	Autosomal recessive cutis laxa type 1
Orphanet:90350	\N	\N	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	78364	\N	\N	EFO	0	EFO	Autosomal recessive cutis laxa type 2	Autosomal recessive cutis laxa type 2
Orphanet:209	Orphanet:90350	\N	"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	223102	\N	\N	EFO	1	EFO	Cutis laxa	Autosomal recessive cutis laxa type 2
Orphanet:289866	Orphanet:90350	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	223103	\N	\N	EFO	1	EFO	Disorder of proline metabolism	Autosomal recessive cutis laxa type 2
Orphanet:93446	Orphanet:90350	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	223104	\N	\N	EFO	1	EFO	Primary bone dysplasia with decreased bone density	Autosomal recessive cutis laxa type 2
Orphanet:139027	Orphanet:209	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	579543	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Autosomal recessive cutis laxa type 2
Orphanet:139030	Orphanet:209	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	579544	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Autosomal recessive cutis laxa type 2
Orphanet:228215	Orphanet:209	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	579545	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Autosomal recessive cutis laxa type 2
Orphanet:98568	Orphanet:209	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	579546	\N	\N	EFO	2	EFO	Congenital entropion	Autosomal recessive cutis laxa type 2
Orphanet:79185	Orphanet:289866	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	579547	\N	\N	EFO	2	EFO	Disorder of ornithine or proline metabolism	Autosomal recessive cutis laxa type 2
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	579548	\N	\N	EFO	2	EFO	Primary bone dysplasia	Autosomal recessive cutis laxa type 2
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	1163253	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	1163254	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	1163255	\N	\N	EFO	3	EFO	Genetic dermis disorder	Autosomal recessive cutis laxa type 2
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	1163256	\N	\N	EFO	3	EFO	Eyelids malposition disorder	Autosomal recessive cutis laxa type 2
Orphanet:79062	Orphanet:79185	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	1163257	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Autosomal recessive cutis laxa type 2
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	1163258	\N	\N	EFO	3	EFO	Rare genetic bone disease	Autosomal recessive cutis laxa type 2
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	1163259	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Autosomal recessive cutis laxa type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	3196972	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive cutis laxa type 2
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	2046943	\N	\N	EFO	4	EFO	Rare genetic skin disease	Autosomal recessive cutis laxa type 2
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	2046944	\N	\N	EFO	4	EFO	Rare palpebral disease	Autosomal recessive cutis laxa type 2
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	2046945	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal recessive cutis laxa type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	2046946	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive cutis laxa type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	2046947	\N	\N	EFO	4	EFO	bone disease	Autosomal recessive cutis laxa type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	2046948	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive cutis laxa type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	6153045	\N	\N	EFO	8	EFO	disease	Autosomal recessive cutis laxa type 2
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	3196966	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive cutis laxa type 2
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	3196967	\N	\N	EFO	5	EFO	skin disease	Autosomal recessive cutis laxa type 2
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	3196968	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Autosomal recessive cutis laxa type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	3196969	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive cutis laxa type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	3196970	\N	\N	EFO	5	EFO	metabolic disease	Autosomal recessive cutis laxa type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	3196971	\N	\N	EFO	5	EFO	skeletal system disease	Autosomal recessive cutis laxa type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	6410405	\N	\N	EFO	9	EFO	disposition	Autosomal recessive cutis laxa type 2
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	4402504	\N	\N	EFO	6	EFO	disease	Autosomal recessive cutis laxa type 2
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	4402505	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive cutis laxa type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	4402506	\N	\N	EFO	6	EFO	disease	Autosomal recessive cutis laxa type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	4402507	\N	\N	EFO	6	EFO	disease	Autosomal recessive cutis laxa type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	6808204	\N	\N	EFO	10	EFO	material property	Autosomal recessive cutis laxa type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	5418491	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cutis laxa type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	5418492	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive cutis laxa type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	7048828	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive cutis laxa type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90350	"Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debr type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." []	6153046	\N	\N	EFO	8	EFO	disease	Autosomal recessive cutis laxa type 2
Orphanet:90354	\N	\N	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	78365	\N	\N	EFO	0	EFO	Brittle cornea syndrome	Brittle cornea syndrome
Orphanet:98249	Orphanet:90354	\N	"" []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	223105	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome	Brittle cornea syndrome
Orphanet:98702	Orphanet:90354	\N	"" []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	223106	\N	\N	EFO	1	EFO	Connective tissue disease with eye involvement	Brittle cornea syndrome
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	579549	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Brittle cornea syndrome
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	579550	\N	\N	EFO	2	EFO	Malformation syndrome with connective tissue involvement	Brittle cornea syndrome
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	579551	\N	\N	EFO	2	EFO	Genetic dermis elastic tissue disorder	Brittle cornea syndrome
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	579552	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Brittle cornea syndrome
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	579553	\N	\N	EFO	2	EFO	connective tissue disease	Brittle cornea syndrome
Orphanet:101435	Orphanet:98702	\N	"" []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	579554	\N	\N	EFO	2	EFO	Rare genetic eye disease	Brittle cornea syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	1163260	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Brittle cornea syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	1163261	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Brittle cornea syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	1163262	\N	\N	EFO	3	EFO	Genetic dermis disorder	Brittle cornea syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	1163263	\N	\N	EFO	3	EFO	genetic disorder	Brittle cornea syndrome
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	1163264	\N	\N	EFO	3	EFO	skeletal system disease	Brittle cornea syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	1163265	\N	\N	EFO	3	EFO	genetic disorder	Brittle cornea syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	1163266	\N	\N	EFO	3	EFO	eye disease	Brittle cornea syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	2046949	\N	\N	EFO	4	EFO	genetic disorder	Brittle cornea syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	2046950	\N	\N	EFO	4	EFO	Rare genetic skin disease	Brittle cornea syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	4402508	\N	\N	EFO	6	EFO	disease	Brittle cornea syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	2046952	\N	\N	EFO	4	EFO	disease	Brittle cornea syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	2046953	\N	\N	EFO	4	EFO	disease	Brittle cornea syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	3196974	\N	\N	EFO	5	EFO	genetic disorder	Brittle cornea syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	3196975	\N	\N	EFO	5	EFO	skin disease	Brittle cornea syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	5060311	\N	\N	EFO	7	EFO	disposition	Brittle cornea syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	4402509	\N	\N	EFO	6	EFO	disease	Brittle cornea syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	5877825	\N	\N	EFO	8	EFO	material property	Brittle cornea syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90354	"Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." []	6471041	\N	\N	EFO	9	EFO	experimental factor	Brittle cornea syndrome
Orphanet:90362	\N	\N	"Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." []	Orphanet:90362	"Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." []	78366	\N	\N	EFO	0	EFO	Primary intestinal lymphangiectasia	Primary intestinal lymphangiectasia
Orphanet:165655	Orphanet:90362	\N	"" []	Orphanet:90362	"Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." []	223107	\N	\N	EFO	1	EFO	Genetic intestinal disease	Primary intestinal lymphangiectasia
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:90362	"Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." []	579555	\N	\N	EFO	2	EFO	digestive system disease	Primary intestinal lymphangiectasia
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:90362	"Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." []	579556	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Primary intestinal lymphangiectasia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90362	"Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." []	1163267	\N	\N	EFO	3	EFO	disease	Primary intestinal lymphangiectasia
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90362	"Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." []	1163268	\N	\N	EFO	3	EFO	genetic disorder	Primary intestinal lymphangiectasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90362	"Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." []	3196978	\N	\N	EFO	5	EFO	disposition	Primary intestinal lymphangiectasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90362	"Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." []	2046955	\N	\N	EFO	4	EFO	disease	Primary intestinal lymphangiectasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90362	"Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." []	4134453	\N	\N	EFO	6	EFO	material property	Primary intestinal lymphangiectasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90362	"Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." []	5183537	\N	\N	EFO	7	EFO	experimental factor	Primary intestinal lymphangiectasia
Orphanet:90368	\N	\N	"" []	Orphanet:90368	"" []	78367	\N	\N	EFO	0	EFO	Hypotrichosis simplex of the scalp	Hypotrichosis simplex of the scalp
Orphanet:79364	Orphanet:90368	\N	"" []	Orphanet:90368	"" []	223108	\N	\N	EFO	1	EFO	Alopecia	Hypotrichosis simplex of the scalp
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:90368	"" []	579557	\N	\N	EFO	2	EFO	Genetic hair anomaly	Hypotrichosis simplex of the scalp
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:90368	"" []	1163269	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Hypotrichosis simplex of the scalp
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:90368	"" []	2046956	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hypotrichosis simplex of the scalp
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90368	"" []	3196979	\N	\N	EFO	5	EFO	genetic disorder	Hypotrichosis simplex of the scalp
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90368	"" []	3196980	\N	\N	EFO	5	EFO	skin disease	Hypotrichosis simplex of the scalp
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90368	"" []	4402512	\N	\N	EFO	6	EFO	disease	Hypotrichosis simplex of the scalp
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90368	"" []	4402513	\N	\N	EFO	6	EFO	disease	Hypotrichosis simplex of the scalp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90368	"" []	5418494	\N	\N	EFO	7	EFO	disposition	Hypotrichosis simplex of the scalp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90368	"" []	6153047	\N	\N	EFO	8	EFO	material property	Hypotrichosis simplex of the scalp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90368	"" []	6634248	\N	\N	EFO	9	EFO	experimental factor	Hypotrichosis simplex of the scalp
Orphanet:90390	\N	\N	"" []	Orphanet:90390	"" []	78368	\N	\N	EFO	0	EFO	Anonychia - onychodystrophy	Anonychia - onychodystrophy
Orphanet:79143	Orphanet:90390	\N	"" []	Orphanet:90390	"" []	223109	\N	\N	EFO	1	EFO	Congenital anonychia	Anonychia - onychodystrophy
Orphanet:139027	Orphanet:79143	\N	"" []	Orphanet:90390	"" []	579558	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Anonychia - onychodystrophy
Orphanet:79369	Orphanet:79143	\N	"" []	Orphanet:90390	"" []	579559	\N	\N	EFO	2	EFO	Isolated nail anomaly	Anonychia - onychodystrophy
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:90390	"" []	1163270	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Anonychia - onychodystrophy
Orphanet:183454	Orphanet:79369	\N	"" []	Orphanet:90390	"" []	1163271	\N	\N	EFO	3	EFO	Genetic nail anomaly	Anonychia - onychodystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90390	"" []	2046957	\N	\N	EFO	4	EFO	genetic disorder	Anonychia - onychodystrophy
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:90390	"" []	2046958	\N	\N	EFO	4	EFO	Genetic epidermal appendage anomaly	Anonychia - onychodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90390	"" []	5418496	\N	\N	EFO	7	EFO	disease	Anonychia - onychodystrophy
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:90390	"" []	3196982	\N	\N	EFO	5	EFO	Rare genetic skin disease	Anonychia - onychodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90390	"" []	5877826	\N	\N	EFO	8	EFO	disposition	Anonychia - onychodystrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90390	"" []	4402515	\N	\N	EFO	6	EFO	genetic disorder	Anonychia - onychodystrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90390	"" []	4402516	\N	\N	EFO	6	EFO	skin disease	Anonychia - onychodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90390	"" []	6471042	\N	\N	EFO	9	EFO	material property	Anonychia - onychodystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90390	"" []	5418497	\N	\N	EFO	7	EFO	disease	Anonychia - onychodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90390	"" []	6848858	\N	\N	EFO	10	EFO	experimental factor	Anonychia - onychodystrophy
Orphanet:904	\N	\N	"" []	Orphanet:904	"" []	78369	\N	\N	EFO	0	EFO	Williams syndrome	Williams syndrome
Orphanet:102283	Orphanet:904	\N	"" []	Orphanet:904	"" []	223110	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Williams syndrome
Orphanet:108987	Orphanet:904	\N	"" []	Orphanet:904	"" []	223111	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Williams syndrome
Orphanet:156532	Orphanet:904	\N	"" []	Orphanet:904	"" []	223112	\N	\N	EFO	1	EFO	Rare syndrome with cardiac malformations	Williams syndrome
Orphanet:156629	Orphanet:904	\N	"" []	Orphanet:904	"" []	223113	\N	\N	EFO	1	EFO	Genetic hypertension	Williams syndrome
Orphanet:262056	Orphanet:904	\N	"" []	Orphanet:904	"" []	223114	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 7	Williams syndrome
Orphanet:306765	Orphanet:904	\N	"" []	Orphanet:904	"" []	223115	\N	\N	EFO	1	EFO	Motor stereotypies	Williams syndrome
Orphanet:98574	Orphanet:904	\N	"" []	Orphanet:904	"" []	223116	\N	\N	EFO	1	EFO	Syndromic epicanthus	Williams syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:904	"" []	579560	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Williams syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:904	"" []	579561	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Williams syndrome
Orphanet:98054	Orphanet:156532	\N	"" []	Orphanet:904	"" []	579562	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Williams syndrome
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:904	"" []	579563	\N	\N	EFO	2	EFO	Rare genetic renal disease	Williams syndrome
Orphanet:261796	Orphanet:262056	\N	"" []	Orphanet:904	"" []	579564	\N	\N	EFO	2	EFO	Partial deletion of chromosome 7	Williams syndrome
Orphanet:183521	Orphanet:306765	\N	"" []	Orphanet:904	"" []	579565	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Williams syndrome
Orphanet:98573	Orphanet:98574	\N	"" []	Orphanet:904	"" []	579566	\N	\N	EFO	2	EFO	Epicanthal fold	Williams syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:904	"" []	1163272	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Williams syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:904	"" []	1163273	\N	\N	EFO	3	EFO	Rare genetic eye disease	Williams syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:904	"" []	1163274	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Williams syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:904	"" []	1163275	\N	\N	EFO	3	EFO	genetic disorder	Williams syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:904	"" []	1163276	\N	\N	EFO	3	EFO	heart disease	Williams syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:904	"" []	1163277	\N	\N	EFO	3	EFO	genetic disorder	Williams syndrome
Orphanet:98142	Orphanet:261796	\N	"" []	Orphanet:904	"" []	1163278	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Williams syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:904	"" []	1163279	\N	\N	EFO	3	EFO	movement disorder	Williams syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:904	"" []	1163280	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Williams syndrome
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:904	"" []	1163281	\N	\N	EFO	3	EFO	Canthal anomaly	Williams syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:904	"" []	2046959	\N	\N	EFO	4	EFO	genetic disorder	Williams syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:904	"" []	5418500	\N	\N	EFO	7	EFO	genetic disorder	Williams syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:904	"" []	5418501	\N	\N	EFO	7	EFO	eye disease	Williams syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:904	"" []	5817893	\N	\N	EFO	8	EFO	disease	Williams syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:904	"" []	2046963	\N	\N	EFO	4	EFO	cardiovascular disease	Williams syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:904	"" []	2046964	\N	\N	EFO	4	EFO	Autosomal monosomy	Williams syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:904	"" []	2046965	\N	\N	EFO	4	EFO	nervous system disease	Williams syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:904	"" []	2046966	\N	\N	EFO	4	EFO	genetic disorder	Williams syndrome
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:904	"" []	2046967	\N	\N	EFO	4	EFO	Rare palpebral disease	Williams syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:904	"" []	5817894	\N	\N	EFO	8	EFO	disease	Williams syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:904	"" []	6379009	\N	\N	EFO	9	EFO	disposition	Williams syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:904	"" []	3196986	\N	\N	EFO	5	EFO	disease	Williams syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:904	"" []	3196987	\N	\N	EFO	5	EFO	Autosomal anomaly	Williams syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:904	"" []	3196988	\N	\N	EFO	5	EFO	disease	Williams syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:904	"" []	3196989	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Williams syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:904	"" []	6778850	\N	\N	EFO	10	EFO	material property	Williams syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:904	"" []	4402518	\N	\N	EFO	6	EFO	Chromosomal anomaly	Williams syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:904	"" []	4402519	\N	\N	EFO	6	EFO	Rare genetic eye disease	Williams syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:904	"" []	7030036	\N	\N	EFO	11	EFO	experimental factor	Williams syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:904	"" []	5418499	\N	\N	EFO	7	EFO	genetic disorder	Williams syndrome
Orphanet:905	\N	\N	"" []	Orphanet:905	"" []	78370	\N	\N	EFO	0	EFO	Wilson disease	Wilson disease
Orphanet:101940	Orphanet:905	\N	"" []	Orphanet:905	"" []	223117	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Wilson disease
Orphanet:207018	Orphanet:905	\N	"" []	Orphanet:905	"" []	223118	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Wilson disease
Orphanet:307061	Orphanet:905	\N	"" []	Orphanet:905	"" []	223119	\N	\N	EFO	1	EFO	Rare genetic tremor disorder	Wilson disease
Orphanet:309839	Orphanet:905	\N	"" []	Orphanet:905	"" []	223120	\N	\N	EFO	1	EFO	Disorder of copper metabolism	Wilson disease
Orphanet:370106	Orphanet:905	\N	"" []	Orphanet:905	"" []	223121	\N	\N	EFO	1	EFO	Rare disorder with dystonia and other neurologic or systemic manifestation	Wilson disease
Orphanet:68385	Orphanet:905	\N	"" []	Orphanet:905	"" []	223122	\N	\N	EFO	1	EFO	Neurometabolic disease	Wilson disease
Orphanet:93593	Orphanet:905	\N	"" []	Orphanet:905	"" []	223123	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Wilson disease
Orphanet:98687	Orphanet:905	\N	"" []	Orphanet:905	"" []	223124	\N	\N	EFO	1	EFO	Supranuclear oculomotor palsy	Wilson disease
Orphanet:98711	Orphanet:905	\N	"" []	Orphanet:905	"" []	223125	\N	\N	EFO	1	EFO	Metabolic disease with corneal opacity	Wilson disease
Orphanet:98712	Orphanet:905	\N	"" []	Orphanet:905	"" []	223126	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Wilson disease
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:905	"" []	579567	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Wilson disease
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:905	"" []	579568	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Wilson disease
Orphanet:183521	Orphanet:307061	\N	"" []	Orphanet:905	"" []	579569	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Wilson disease
Orphanet:309836	Orphanet:309839	\N	"" []	Orphanet:905	"" []	579570	\N	\N	EFO	2	EFO	Disorder of mineral absorption and transport	Wilson disease
Orphanet:391799	Orphanet:370106	\N	"" []	Orphanet:905	"" []	579571	\N	\N	EFO	2	EFO	Rare genetic dystonia	Wilson disease
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:905	"" []	579572	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Wilson disease
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:905	"" []	579573	\N	\N	EFO	2	EFO	Rare genetic renal disease	Wilson disease
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:905	"" []	579574	\N	\N	EFO	2	EFO	Oculomotor palsy	Wilson disease
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:905	"" []	579575	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Wilson disease
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:905	"" []	579576	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Wilson disease
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:905	"" []	1163282	\N	\N	EFO	3	EFO	digestive system disease	Wilson disease
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:905	"" []	1163283	\N	\N	EFO	3	EFO	genetic disorder	Wilson disease
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:905	"" []	1163284	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Wilson disease
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:905	"" []	2046974	\N	\N	EFO	4	EFO	movement disorder	Wilson disease
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:905	"" []	2046975	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Wilson disease
Orphanet:309824	Orphanet:309836	\N	"" []	Orphanet:905	"" []	1163287	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Wilson disease
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:905	"" []	1163288	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Wilson disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:905	"" []	3000481	\N	\N	EFO	5	EFO	genetic disorder	Wilson disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:905	"" []	1163290	\N	\N	EFO	3	EFO	genetic disorder	Wilson disease
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:905	"" []	1163291	\N	\N	EFO	3	EFO	palsy	Wilson disease
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:905	"" []	1163292	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Wilson disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:905	"" []	1163293	\N	\N	EFO	3	EFO	Rare genetic eye disease	Wilson disease
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:905	"" []	2046968	\N	\N	EFO	4	EFO	disease	Wilson disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:905	"" []	4067009	\N	\N	EFO	6	EFO	disease	Wilson disease
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:905	"" []	2046970	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Wilson disease
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:905	"" []	3000480	\N	\N	EFO	5	EFO	nervous system disease	Wilson disease
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:905	"" []	2046973	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Wilson disease
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:905	"" []	2046976	\N	\N	EFO	4	EFO	nervous system disease	Wilson disease
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:905	"" []	2046977	\N	\N	EFO	4	EFO	Rare genetic eye disease	Wilson disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:905	"" []	3196994	\N	\N	EFO	5	EFO	genetic disorder	Wilson disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:905	"" []	3196995	\N	\N	EFO	5	EFO	eye disease	Wilson disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:905	"" []	5060312	\N	\N	EFO	7	EFO	disposition	Wilson disease
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:905	"" []	4134456	\N	\N	EFO	6	EFO	disease	Wilson disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:905	"" []	3196992	\N	\N	EFO	5	EFO	genetic disorder	Wilson disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:905	"" []	3196993	\N	\N	EFO	5	EFO	metabolic disease	Wilson disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:905	"" []	4134457	\N	\N	EFO	6	EFO	disease	Wilson disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:905	"" []	5877827	\N	\N	EFO	8	EFO	material property	Wilson disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:905	"" []	4402521	\N	\N	EFO	6	EFO	disease	Wilson disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:905	"" []	6471043	\N	\N	EFO	9	EFO	experimental factor	Wilson disease
Orphanet:906	\N	\N	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	78371	\N	\N	EFO	0	EFO	Wiskott-Aldrich syndrome	Wiskott-Aldrich syndrome
Orphanet:183422	Orphanet:906	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	223127	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Wiskott-Aldrich syndrome
Orphanet:183494	Orphanet:906	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	223128	\N	\N	EFO	1	EFO	Genetic immune deficiency with skin involvement	Wiskott-Aldrich syndrome
Orphanet:331217	Orphanet:906	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	223129	\N	\N	EFO	1	EFO	Other immunodeficiency syndrome due to defects in adaptive immunity	Wiskott-Aldrich syndrome
Orphanet:98456	Orphanet:906	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	223130	\N	\N	EFO	1	EFO	Dense granule disease	Wiskott-Aldrich syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	579577	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Wiskott-Aldrich syndrome
Orphanet:68346	Orphanet:183494	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	579578	\N	\N	EFO	2	EFO	Rare genetic skin disease	Wiskott-Aldrich syndrome
Orphanet:179006	Orphanet:331217	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	579579	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Wiskott-Aldrich syndrome
Orphanet:98454	Orphanet:98456	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	579580	\N	\N	EFO	2	EFO	Platelet storage pool disease	Wiskott-Aldrich syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	1163294	\N	\N	EFO	3	EFO	genetic disorder	Wiskott-Aldrich syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	1163295	\N	\N	EFO	3	EFO	genetic disorder	Wiskott-Aldrich syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	1163296	\N	\N	EFO	3	EFO	skin disease	Wiskott-Aldrich syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	1163297	\N	\N	EFO	3	EFO	Primary immunodeficiency	Wiskott-Aldrich syndrome
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	1163298	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Wiskott-Aldrich syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	6153049	\N	\N	EFO	8	EFO	disease	Wiskott-Aldrich syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	2046981	\N	\N	EFO	4	EFO	disease	Wiskott-Aldrich syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	2046982	\N	\N	EFO	4	EFO	Rare genetic immune disease	Wiskott-Aldrich syndrome
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	2046983	\N	\N	EFO	4	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Wiskott-Aldrich syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	6379010	\N	\N	EFO	9	EFO	disposition	Wiskott-Aldrich syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	3196998	\N	\N	EFO	5	EFO	genetic disorder	Wiskott-Aldrich syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	3196999	\N	\N	EFO	5	EFO	immune system disease	Wiskott-Aldrich syndrome
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	3197000	\N	\N	EFO	5	EFO	Rare genetic coagulation disorder	Wiskott-Aldrich syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	6778851	\N	\N	EFO	10	EFO	material property	Wiskott-Aldrich syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	4402524	\N	\N	EFO	6	EFO	disease	Wiskott-Aldrich syndrome
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	4402525	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Wiskott-Aldrich syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	7030037	\N	\N	EFO	11	EFO	experimental factor	Wiskott-Aldrich syndrome
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	5418504	\N	\N	EFO	7	EFO	genetic disorder	Wiskott-Aldrich syndrome
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	5418505	\N	\N	EFO	7	EFO	hematological system disease	Wiskott-Aldrich syndrome
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:906	"Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." []	6153050	\N	\N	EFO	8	EFO	disease	Wiskott-Aldrich syndrome
Orphanet:90625	\N	\N	"" []	Orphanet:90625	"" []	78372	\N	\N	EFO	0	EFO	X-linked non-syndromic sensorineural deafness type DFN	X-linked non-syndromic sensorineural deafness type DFN
Orphanet:216445	Orphanet:90625	\N	"" []	Orphanet:90625	"" []	223131	\N	\N	EFO	1	EFO	Prelingual non-syndromic genetic deafness	X-linked non-syndromic sensorineural deafness type DFN
Orphanet:216452	Orphanet:90625	\N	"" []	Orphanet:90625	"" []	223132	\N	\N	EFO	1	EFO	Postlingual non-syndromic genetic deafness	X-linked non-syndromic sensorineural deafness type DFN
Orphanet:87884	Orphanet:216445	\N	"" []	Orphanet:90625	"" []	579581	\N	\N	EFO	2	EFO	Non-syndromic genetic deafness	X-linked non-syndromic sensorineural deafness type DFN
Orphanet:87884	Orphanet:216452	\N	"" []	Orphanet:90625	"" []	579582	\N	\N	EFO	2	EFO	Non-syndromic genetic deafness	X-linked non-syndromic sensorineural deafness type DFN
Orphanet:96210	Orphanet:87884	\N	"" []	Orphanet:90625	"" []	1163299	\N	\N	EFO	3	EFO	Rare genetic deafness	X-linked non-syndromic sensorineural deafness type DFN
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90625	"" []	2046984	\N	\N	EFO	4	EFO	genetic disorder	X-linked non-syndromic sensorineural deafness type DFN
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90625	"" []	2046985	\N	\N	EFO	4	EFO	auditory system disease	X-linked non-syndromic sensorineural deafness type DFN
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90625	"" []	3197001	\N	\N	EFO	5	EFO	disease	X-linked non-syndromic sensorineural deafness type DFN
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90625	"" []	3197002	\N	\N	EFO	5	EFO	sensory system disease	X-linked non-syndromic sensorineural deafness type DFN
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90625	"" []	6153052	\N	\N	EFO	8	EFO	disposition	X-linked non-syndromic sensorineural deafness type DFN
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90625	"" []	4402527	\N	\N	EFO	6	EFO	nervous system disease	X-linked non-syndromic sensorineural deafness type DFN
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90625	"" []	6471045	\N	\N	EFO	9	EFO	material property	X-linked non-syndromic sensorineural deafness type DFN
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90625	"" []	5418507	\N	\N	EFO	7	EFO	disease	X-linked non-syndromic sensorineural deafness type DFN
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90625	"" []	6848859	\N	\N	EFO	10	EFO	experimental factor	X-linked non-syndromic sensorineural deafness type DFN
Orphanet:90635	\N	\N	"" []	Orphanet:90635	"" []	78373	\N	\N	EFO	0	EFO	Autosomal dominant non-syndromic sensorineural deafness type DFNA	Autosomal dominant non-syndromic sensorineural deafness type DFNA
Orphanet:216445	Orphanet:90635	\N	"" []	Orphanet:90635	"" []	223133	\N	\N	EFO	1	EFO	Prelingual non-syndromic genetic deafness	Autosomal dominant non-syndromic sensorineural deafness type DFNA
Orphanet:216452	Orphanet:90635	\N	"" []	Orphanet:90635	"" []	223134	\N	\N	EFO	1	EFO	Postlingual non-syndromic genetic deafness	Autosomal dominant non-syndromic sensorineural deafness type DFNA
Orphanet:87884	Orphanet:216445	\N	"" []	Orphanet:90635	"" []	579583	\N	\N	EFO	2	EFO	Non-syndromic genetic deafness	Autosomal dominant non-syndromic sensorineural deafness type DFNA
Orphanet:87884	Orphanet:216452	\N	"" []	Orphanet:90635	"" []	579584	\N	\N	EFO	2	EFO	Non-syndromic genetic deafness	Autosomal dominant non-syndromic sensorineural deafness type DFNA
Orphanet:96210	Orphanet:87884	\N	"" []	Orphanet:90635	"" []	1163300	\N	\N	EFO	3	EFO	Rare genetic deafness	Autosomal dominant non-syndromic sensorineural deafness type DFNA
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90635	"" []	2046986	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant non-syndromic sensorineural deafness type DFNA
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90635	"" []	2046987	\N	\N	EFO	4	EFO	auditory system disease	Autosomal dominant non-syndromic sensorineural deafness type DFNA
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90635	"" []	3197003	\N	\N	EFO	5	EFO	disease	Autosomal dominant non-syndromic sensorineural deafness type DFNA
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90635	"" []	3197004	\N	\N	EFO	5	EFO	sensory system disease	Autosomal dominant non-syndromic sensorineural deafness type DFNA
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90635	"" []	6153054	\N	\N	EFO	8	EFO	disposition	Autosomal dominant non-syndromic sensorineural deafness type DFNA
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90635	"" []	4402529	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant non-syndromic sensorineural deafness type DFNA
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90635	"" []	6471046	\N	\N	EFO	9	EFO	material property	Autosomal dominant non-syndromic sensorineural deafness type DFNA
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90635	"" []	5418509	\N	\N	EFO	7	EFO	disease	Autosomal dominant non-syndromic sensorineural deafness type DFNA
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90635	"" []	6848860	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant non-syndromic sensorineural deafness type DFNA
Orphanet:90636	\N	\N	"" []	Orphanet:90636	"" []	78374	\N	\N	EFO	0	EFO	Autosomal recessive non-syndromic sensorineural deafness type DFNB	Autosomal recessive non-syndromic sensorineural deafness type DFNB
Orphanet:216445	Orphanet:90636	\N	"" []	Orphanet:90636	"" []	223135	\N	\N	EFO	1	EFO	Prelingual non-syndromic genetic deafness	Autosomal recessive non-syndromic sensorineural deafness type DFNB
Orphanet:216452	Orphanet:90636	\N	"" []	Orphanet:90636	"" []	223136	\N	\N	EFO	1	EFO	Postlingual non-syndromic genetic deafness	Autosomal recessive non-syndromic sensorineural deafness type DFNB
Orphanet:87884	Orphanet:216445	\N	"" []	Orphanet:90636	"" []	579585	\N	\N	EFO	2	EFO	Non-syndromic genetic deafness	Autosomal recessive non-syndromic sensorineural deafness type DFNB
Orphanet:87884	Orphanet:216452	\N	"" []	Orphanet:90636	"" []	579586	\N	\N	EFO	2	EFO	Non-syndromic genetic deafness	Autosomal recessive non-syndromic sensorineural deafness type DFNB
Orphanet:96210	Orphanet:87884	\N	"" []	Orphanet:90636	"" []	1163301	\N	\N	EFO	3	EFO	Rare genetic deafness	Autosomal recessive non-syndromic sensorineural deafness type DFNB
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90636	"" []	2046988	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive non-syndromic sensorineural deafness type DFNB
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90636	"" []	2046989	\N	\N	EFO	4	EFO	auditory system disease	Autosomal recessive non-syndromic sensorineural deafness type DFNB
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90636	"" []	3197005	\N	\N	EFO	5	EFO	disease	Autosomal recessive non-syndromic sensorineural deafness type DFNB
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90636	"" []	3197006	\N	\N	EFO	5	EFO	sensory system disease	Autosomal recessive non-syndromic sensorineural deafness type DFNB
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90636	"" []	6153056	\N	\N	EFO	8	EFO	disposition	Autosomal recessive non-syndromic sensorineural deafness type DFNB
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90636	"" []	4402531	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive non-syndromic sensorineural deafness type DFNB
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90636	"" []	6471047	\N	\N	EFO	9	EFO	material property	Autosomal recessive non-syndromic sensorineural deafness type DFNB
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90636	"" []	5418511	\N	\N	EFO	7	EFO	disease	Autosomal recessive non-syndromic sensorineural deafness type DFNB
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90636	"" []	6848861	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive non-syndromic sensorineural deafness type DFNB
Orphanet:90641	\N	\N	"" []	Orphanet:90641	"" []	78375	\N	\N	EFO	0	EFO	Mitochondrial non-syndromic sensorineural deafness	Mitochondrial non-syndromic sensorineural deafness
Orphanet:216445	Orphanet:90641	\N	"" []	Orphanet:90641	"" []	223137	\N	\N	EFO	1	EFO	Prelingual non-syndromic genetic deafness	Mitochondrial non-syndromic sensorineural deafness
Orphanet:216452	Orphanet:90641	\N	"" []	Orphanet:90641	"" []	223138	\N	\N	EFO	1	EFO	Postlingual non-syndromic genetic deafness	Mitochondrial non-syndromic sensorineural deafness
Orphanet:254776	Orphanet:90641	\N	"" []	Orphanet:90641	"" []	223139	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Mitochondrial non-syndromic sensorineural deafness
Orphanet:87884	Orphanet:216445	\N	"" []	Orphanet:90641	"" []	579587	\N	\N	EFO	2	EFO	Non-syndromic genetic deafness	Mitochondrial non-syndromic sensorineural deafness
Orphanet:87884	Orphanet:216452	\N	"" []	Orphanet:90641	"" []	579588	\N	\N	EFO	2	EFO	Non-syndromic genetic deafness	Mitochondrial non-syndromic sensorineural deafness
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:90641	"" []	579589	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Mitochondrial non-syndromic sensorineural deafness
Orphanet:96210	Orphanet:87884	\N	"" []	Orphanet:90641	"" []	1163302	\N	\N	EFO	3	EFO	Rare genetic deafness	Mitochondrial non-syndromic sensorineural deafness
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:90641	"" []	1163303	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Mitochondrial non-syndromic sensorineural deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90641	"" []	2046990	\N	\N	EFO	4	EFO	genetic disorder	Mitochondrial non-syndromic sensorineural deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90641	"" []	2046991	\N	\N	EFO	4	EFO	auditory system disease	Mitochondrial non-syndromic sensorineural deafness
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:90641	"" []	2046992	\N	\N	EFO	4	EFO	Mitochondrial disease	Mitochondrial non-syndromic sensorineural deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90641	"" []	6153059	\N	\N	EFO	8	EFO	disease	Mitochondrial non-syndromic sensorineural deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90641	"" []	3197008	\N	\N	EFO	5	EFO	sensory system disease	Mitochondrial non-syndromic sensorineural deafness
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:90641	"" []	3197009	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Mitochondrial non-syndromic sensorineural deafness
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:90641	"" []	3197010	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Mitochondrial non-syndromic sensorineural deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90641	"" []	6410406	\N	\N	EFO	9	EFO	disposition	Mitochondrial non-syndromic sensorineural deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90641	"" []	4402533	\N	\N	EFO	6	EFO	nervous system disease	Mitochondrial non-syndromic sensorineural deafness
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:90641	"" []	4402534	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Mitochondrial non-syndromic sensorineural deafness
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:90641	"" []	4402535	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Mitochondrial non-syndromic sensorineural deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90641	"" []	6808205	\N	\N	EFO	10	EFO	material property	Mitochondrial non-syndromic sensorineural deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90641	"" []	5418513	\N	\N	EFO	7	EFO	disease	Mitochondrial non-syndromic sensorineural deafness
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90641	"" []	5418514	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial non-syndromic sensorineural deafness
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90641	"" []	5418515	\N	\N	EFO	7	EFO	genetic disorder	Mitochondrial non-syndromic sensorineural deafness
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:90641	"" []	5418516	\N	\N	EFO	7	EFO	metabolic disease	Mitochondrial non-syndromic sensorineural deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90641	"" []	7048829	\N	\N	EFO	11	EFO	experimental factor	Mitochondrial non-syndromic sensorineural deafness
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90641	"" []	6153060	\N	\N	EFO	8	EFO	disease	Mitochondrial non-syndromic sensorineural deafness
Orphanet:90642	\N	\N	"" []	Orphanet:90642	"" []	78376	\N	\N	EFO	0	EFO	Syndromic genetic deafness	Syndromic genetic deafness
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90642	"" []	223140	\N	\N	EFO	1	EFO	Rare genetic deafness	Syndromic genetic deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90642	"" []	579590	\N	\N	EFO	2	EFO	genetic disorder	Syndromic genetic deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90642	"" []	579591	\N	\N	EFO	2	EFO	auditory system disease	Syndromic genetic deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90642	"" []	1163304	\N	\N	EFO	3	EFO	disease	Syndromic genetic deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90642	"" []	1163305	\N	\N	EFO	3	EFO	sensory system disease	Syndromic genetic deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90642	"" []	4402537	\N	\N	EFO	6	EFO	disposition	Syndromic genetic deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90642	"" []	2046994	\N	\N	EFO	4	EFO	nervous system disease	Syndromic genetic deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90642	"" []	5060314	\N	\N	EFO	7	EFO	material property	Syndromic genetic deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90642	"" []	3197012	\N	\N	EFO	5	EFO	disease	Syndromic genetic deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90642	"" []	5877829	\N	\N	EFO	8	EFO	experimental factor	Syndromic genetic deafness
Orphanet:90646	\N	\N	"" []	Orphanet:90646	"" []	78377	\N	\N	EFO	0	EFO	Deafness - hypogonadism	Deafness - hypogonadism
Orphanet:181441	Orphanet:90646	\N	"" []	Orphanet:90646	"" []	223141	\N	\N	EFO	1	EFO	Rare disorder with hypergonadotropic hypogonadism	Deafness - hypogonadism
Orphanet:90642	Orphanet:90646	\N	"" []	Orphanet:90646	"" []	223142	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness - hypogonadism
Orphanet:156638	Orphanet:181441	\N	"" []	Orphanet:90646	"" []	579592	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Deafness - hypogonadism
Orphanet:399685	Orphanet:181441	\N	"" []	Orphanet:90646	"" []	579593	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Deafness - hypogonadism
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90646	"" []	579594	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness - hypogonadism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90646	"" []	1163306	\N	\N	EFO	3	EFO	genetic disorder	Deafness - hypogonadism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90646	"" []	1163307	\N	\N	EFO	3	EFO	endocrine system disease	Deafness - hypogonadism
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:90646	"" []	1163308	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Deafness - hypogonadism
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90646	"" []	1163309	\N	\N	EFO	3	EFO	genetic disorder	Deafness - hypogonadism
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90646	"" []	1163310	\N	\N	EFO	3	EFO	auditory system disease	Deafness - hypogonadism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90646	"" []	5418518	\N	\N	EFO	7	EFO	disease	Deafness - hypogonadism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90646	"" []	2046996	\N	\N	EFO	4	EFO	disease	Deafness - hypogonadism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:90646	"" []	2046997	\N	\N	EFO	4	EFO	Rare genetic male infertility	Deafness - hypogonadism
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90646	"" []	2046998	\N	\N	EFO	4	EFO	sensory system disease	Deafness - hypogonadism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90646	"" []	5817895	\N	\N	EFO	8	EFO	disposition	Deafness - hypogonadism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:90646	"" []	3197014	\N	\N	EFO	5	EFO	Genetic infertility	Deafness - hypogonadism
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90646	"" []	3197015	\N	\N	EFO	5	EFO	nervous system disease	Deafness - hypogonadism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90646	"" []	6410407	\N	\N	EFO	9	EFO	material property	Deafness - hypogonadism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90646	"" []	4402539	\N	\N	EFO	6	EFO	genetic disorder	Deafness - hypogonadism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:90646	"" []	4402540	\N	\N	EFO	6	EFO	reproductive system disease	Deafness - hypogonadism
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90646	"" []	4402541	\N	\N	EFO	6	EFO	disease	Deafness - hypogonadism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90646	"" []	6808206	\N	\N	EFO	10	EFO	experimental factor	Deafness - hypogonadism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90646	"" []	5418519	\N	\N	EFO	7	EFO	disease	Deafness - hypogonadism
Orphanet:90647	\N	\N	"" []	Orphanet:90647	"" []	78378	\N	\N	EFO	0	EFO	Jervell and Lange-Nielsen syndrome	Jervell and Lange-Nielsen syndrome
Orphanet:768	Orphanet:90647	\N	"" []	Orphanet:90647	"" []	223143	\N	\N	EFO	1	EFO	Familial long QT syndrome	Jervell and Lange-Nielsen syndrome
Orphanet:90642	Orphanet:90647	\N	"" []	Orphanet:90647	"" []	223144	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Jervell and Lange-Nielsen syndrome
Orphanet:101934	Orphanet:768	\N	"" []	Orphanet:90647	"" []	579595	\N	\N	EFO	2	EFO	Genetic cardiac rhythm disease	Jervell and Lange-Nielsen syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90647	"" []	579596	\N	\N	EFO	2	EFO	Rare genetic deafness	Jervell and Lange-Nielsen syndrome
Orphanet:98054	Orphanet:101934	\N	"" []	Orphanet:90647	"" []	1163311	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Jervell and Lange-Nielsen syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90647	"" []	1163312	\N	\N	EFO	3	EFO	genetic disorder	Jervell and Lange-Nielsen syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90647	"" []	1163313	\N	\N	EFO	3	EFO	auditory system disease	Jervell and Lange-Nielsen syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90647	"" []	2046999	\N	\N	EFO	4	EFO	genetic disorder	Jervell and Lange-Nielsen syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:90647	"" []	2047000	\N	\N	EFO	4	EFO	heart disease	Jervell and Lange-Nielsen syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90647	"" []	3197016	\N	\N	EFO	5	EFO	disease	Jervell and Lange-Nielsen syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90647	"" []	2047002	\N	\N	EFO	4	EFO	sensory system disease	Jervell and Lange-Nielsen syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:90647	"" []	3197017	\N	\N	EFO	5	EFO	cardiovascular disease	Jervell and Lange-Nielsen syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90647	"" []	5418521	\N	\N	EFO	7	EFO	disposition	Jervell and Lange-Nielsen syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90647	"" []	3197019	\N	\N	EFO	5	EFO	nervous system disease	Jervell and Lange-Nielsen syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90647	"" []	4402542	\N	\N	EFO	6	EFO	disease	Jervell and Lange-Nielsen syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90647	"" []	5877831	\N	\N	EFO	8	EFO	material property	Jervell and Lange-Nielsen syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90647	"" []	4402544	\N	\N	EFO	6	EFO	disease	Jervell and Lange-Nielsen syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90647	"" []	6471050	\N	\N	EFO	9	EFO	experimental factor	Jervell and Lange-Nielsen syndrome
Orphanet:90650	\N	\N	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	78379	\N	\N	EFO	0	EFO	Otopalatodigital syndrome type 1	Otopalatodigital syndrome type 1
Orphanet:669	Orphanet:90650	\N	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	223145	\N	\N	EFO	1	EFO	Otopalatodigital syndrome	Otopalatodigital syndrome type 1
Orphanet:102283	Orphanet:669	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	579597	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Otopalatodigital syndrome type 1
Orphanet:156237	Orphanet:669	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	579598	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Otopalatodigital syndrome type 1
Orphanet:183576	Orphanet:669	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	579599	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Otopalatodigital syndrome type 1
Orphanet:364541	Orphanet:669	\N	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	579600	\N	\N	EFO	2	EFO	Frontootopalatodigital syndrome	Otopalatodigital syndrome type 1
Orphanet:90642	Orphanet:669	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	579601	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Otopalatodigital syndrome type 1
Orphanet:98464	Orphanet:669	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	579602	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Otopalatodigital syndrome type 1
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	1163314	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Otopalatodigital syndrome type 1
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	1163315	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Otopalatodigital syndrome type 1
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	1163316	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Otopalatodigital syndrome type 1
Orphanet:364526	Orphanet:364541	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	1163317	\N	\N	EFO	3	EFO	Primary bone dysplasia	Otopalatodigital syndrome type 1
Orphanet:93425	Orphanet:364541	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	1163318	\N	\N	EFO	3	EFO	Filamin-related bone disorder	Otopalatodigital syndrome type 1
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	1163319	\N	\N	EFO	3	EFO	Rare genetic deafness	Otopalatodigital syndrome type 1
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	1163320	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Otopalatodigital syndrome type 1
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	2047003	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Otopalatodigital syndrome type 1
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	2047004	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Otopalatodigital syndrome type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	4402545	\N	\N	EFO	6	EFO	genetic disorder	Otopalatodigital syndrome type 1
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	2047006	\N	\N	EFO	4	EFO	Rare genetic bone disease	Otopalatodigital syndrome type 1
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	2047007	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Otopalatodigital syndrome type 1
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	2047008	\N	\N	EFO	4	EFO	Rare bone disease related to a common gene or pathway defect	Otopalatodigital syndrome type 1
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	2047009	\N	\N	EFO	4	EFO	genetic disorder	Otopalatodigital syndrome type 1
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	2047010	\N	\N	EFO	4	EFO	auditory system disease	Otopalatodigital syndrome type 1
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	2047011	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Otopalatodigital syndrome type 1
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	3197021	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Otopalatodigital syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	5060315	\N	\N	EFO	7	EFO	disease	Otopalatodigital syndrome type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	4402548	\N	\N	EFO	6	EFO	genetic disorder	Otopalatodigital syndrome type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	4402549	\N	\N	EFO	6	EFO	bone disease	Otopalatodigital syndrome type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	3197025	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Otopalatodigital syndrome type 1
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	3197026	\N	\N	EFO	5	EFO	Rare genetic bone disease	Otopalatodigital syndrome type 1
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	3197027	\N	\N	EFO	5	EFO	sensory system disease	Otopalatodigital syndrome type 1
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	3197028	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Otopalatodigital syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	6551871	\N	\N	EFO	9	EFO	disposition	Otopalatodigital syndrome type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	5183542	\N	\N	EFO	7	EFO	skeletal system disease	Otopalatodigital syndrome type 1
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	4402550	\N	\N	EFO	6	EFO	nervous system disease	Otopalatodigital syndrome type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	4402551	\N	\N	EFO	6	EFO	genetic disorder	Otopalatodigital syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	6808207	\N	\N	EFO	10	EFO	material property	Otopalatodigital syndrome type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	5998861	\N	\N	EFO	8	EFO	disease	Otopalatodigital syndrome type 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	5418525	\N	\N	EFO	7	EFO	disease	Otopalatodigital syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90650	"Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies." []	7048830	\N	\N	EFO	11	EFO	experimental factor	Otopalatodigital syndrome type 1
Orphanet:90652	\N	\N	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	78380	\N	\N	EFO	0	EFO	Otopalatodigital syndrome type 2	Otopalatodigital syndrome type 2
Orphanet:669	Orphanet:90652	\N	"Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	223146	\N	\N	EFO	1	EFO	Otopalatodigital syndrome	Otopalatodigital syndrome type 2
Orphanet:102283	Orphanet:669	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	579603	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Otopalatodigital syndrome type 2
Orphanet:156237	Orphanet:669	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	579604	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Otopalatodigital syndrome type 2
Orphanet:183576	Orphanet:669	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	579605	\N	\N	EFO	2	EFO	Genetic branchial arch or oral-acral syndrome	Otopalatodigital syndrome type 2
Orphanet:364541	Orphanet:669	\N	"Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms)." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	579606	\N	\N	EFO	2	EFO	Frontootopalatodigital syndrome	Otopalatodigital syndrome type 2
Orphanet:90642	Orphanet:669	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	579607	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Otopalatodigital syndrome type 2
Orphanet:98464	Orphanet:669	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	579608	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Otopalatodigital syndrome type 2
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	1163321	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Otopalatodigital syndrome type 2
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	1163322	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Otopalatodigital syndrome type 2
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	1163323	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Otopalatodigital syndrome type 2
Orphanet:364526	Orphanet:364541	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	1163324	\N	\N	EFO	3	EFO	Primary bone dysplasia	Otopalatodigital syndrome type 2
Orphanet:93425	Orphanet:364541	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	1163325	\N	\N	EFO	3	EFO	Filamin-related bone disorder	Otopalatodigital syndrome type 2
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	1163326	\N	\N	EFO	3	EFO	Rare genetic deafness	Otopalatodigital syndrome type 2
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	1163327	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Otopalatodigital syndrome type 2
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	2047012	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Otopalatodigital syndrome type 2
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	2047013	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Otopalatodigital syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	4402552	\N	\N	EFO	6	EFO	genetic disorder	Otopalatodigital syndrome type 2
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	2047015	\N	\N	EFO	4	EFO	Rare genetic bone disease	Otopalatodigital syndrome type 2
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	2047016	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Otopalatodigital syndrome type 2
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	2047017	\N	\N	EFO	4	EFO	Rare bone disease related to a common gene or pathway defect	Otopalatodigital syndrome type 2
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	2047018	\N	\N	EFO	4	EFO	genetic disorder	Otopalatodigital syndrome type 2
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	2047019	\N	\N	EFO	4	EFO	auditory system disease	Otopalatodigital syndrome type 2
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	2047020	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Otopalatodigital syndrome type 2
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	3197030	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Otopalatodigital syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	5060316	\N	\N	EFO	7	EFO	disease	Otopalatodigital syndrome type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	4402555	\N	\N	EFO	6	EFO	genetic disorder	Otopalatodigital syndrome type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	4402556	\N	\N	EFO	6	EFO	bone disease	Otopalatodigital syndrome type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	3197034	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Otopalatodigital syndrome type 2
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	3197035	\N	\N	EFO	5	EFO	Rare genetic bone disease	Otopalatodigital syndrome type 2
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	3197036	\N	\N	EFO	5	EFO	sensory system disease	Otopalatodigital syndrome type 2
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	3197037	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Otopalatodigital syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	6551873	\N	\N	EFO	9	EFO	disposition	Otopalatodigital syndrome type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	5183544	\N	\N	EFO	7	EFO	skeletal system disease	Otopalatodigital syndrome type 2
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	4402557	\N	\N	EFO	6	EFO	nervous system disease	Otopalatodigital syndrome type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	4402558	\N	\N	EFO	6	EFO	genetic disorder	Otopalatodigital syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	6808208	\N	\N	EFO	10	EFO	material property	Otopalatodigital syndrome type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	5998863	\N	\N	EFO	8	EFO	disease	Otopalatodigital syndrome type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	5418528	\N	\N	EFO	7	EFO	disease	Otopalatodigital syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90652	"Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival." []	7048831	\N	\N	EFO	11	EFO	experimental factor	Otopalatodigital syndrome type 2
Orphanet:90653	\N	\N	"" []	Orphanet:90653	"" []	78381	\N	\N	EFO	0	EFO	Stickler syndrome type 1	Stickler syndrome type 1
Orphanet:828	Orphanet:90653	\N	"" []	Orphanet:90653	"" []	223147	\N	\N	EFO	1	EFO	Stickler syndrome	Stickler syndrome type 1
Orphanet:93421	Orphanet:90653	\N	"" []	Orphanet:90653	"" []	223148	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Stickler syndrome type 1
Orphanet:108987	Orphanet:828	\N	"" []	Orphanet:90653	"" []	579609	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Stickler syndrome type 1
Orphanet:138041	Orphanet:828	\N	"" []	Orphanet:90653	"" []	579610	\N	\N	EFO	2	EFO	Pierre Robin syndrome associated with collagen disease	Stickler syndrome type 1
Orphanet:253	Orphanet:828	\N	"" []	Orphanet:90653	"" []	579611	\N	\N	EFO	2	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Stickler syndrome type 1
Orphanet:90642	Orphanet:828	\N	"" []	Orphanet:90653	"" []	579612	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Stickler syndrome type 1
Orphanet:98620	Orphanet:828	\N	"" []	Orphanet:90653	"" []	579613	\N	\N	EFO	2	EFO	Syndromic myopia	Stickler syndrome type 1
Orphanet:98638	Orphanet:828	\N	"" []	Orphanet:90653	"" []	579614	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Stickler syndrome type 1
Orphanet:98648	Orphanet:828	\N	"" []	Orphanet:90653	"" []	579615	\N	\N	EFO	2	EFO	Musculoskeletal disease with cataract	Stickler syndrome type 1
Orphanet:98670	Orphanet:828	\N	"" []	Orphanet:90653	"" []	579616	\N	\N	EFO	2	EFO	Vitreoretinal degeneration	Stickler syndrome type 1
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:90653	"" []	579617	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Stickler syndrome type 1
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:90653	"" []	1163328	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Stickler syndrome type 1
Orphanet:363294	Orphanet:138041	\N	"" []	Orphanet:90653	"" []	1163329	\N	\N	EFO	3	EFO	Genetic syndromic Pierre Robin syndrome	Stickler syndrome type 1
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:90653	"" []	1163330	\N	\N	EFO	3	EFO	Primary bone dysplasia	Stickler syndrome type 1
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90653	"" []	1163331	\N	\N	EFO	3	EFO	Rare genetic deafness	Stickler syndrome type 1
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:90653	"" []	1163332	\N	\N	EFO	3	EFO	Rare genetic refraction anomaly	Stickler syndrome type 1
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:90653	"" []	1163333	\N	\N	EFO	3	EFO	Rare genetic eye disease	Stickler syndrome type 1
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:90653	"" []	1163334	\N	\N	EFO	3	EFO	Systemic disease with cataract	Stickler syndrome type 1
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:90653	"" []	1163335	\N	\N	EFO	3	EFO	Vitreoretinopathy	Stickler syndrome type 1
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:90653	"" []	1163336	\N	\N	EFO	3	EFO	Rare genetic bone disease	Stickler syndrome type 1
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:90653	"" []	2047021	\N	\N	EFO	4	EFO	Rare genetic eye disease	Stickler syndrome type 1
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:90653	"" []	2047022	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Stickler syndrome type 1
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:90653	"" []	2047023	\N	\N	EFO	4	EFO	Syndrome or malformation associated with head and neck malformations	Stickler syndrome type 1
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:90653	"" []	2047024	\N	\N	EFO	4	EFO	Rare genetic bone disease	Stickler syndrome type 1
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:90653	"" []	2047025	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Stickler syndrome type 1
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90653	"" []	2047026	\N	\N	EFO	4	EFO	genetic disorder	Stickler syndrome type 1
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90653	"" []	2047027	\N	\N	EFO	4	EFO	auditory system disease	Stickler syndrome type 1
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:90653	"" []	2047028	\N	\N	EFO	4	EFO	Rare genetic eye disease	Stickler syndrome type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90653	"" []	6153065	\N	\N	EFO	8	EFO	genetic disorder	Stickler syndrome type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:90653	"" []	6153066	\N	\N	EFO	8	EFO	eye disease	Stickler syndrome type 1
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:90653	"" []	2047031	\N	\N	EFO	4	EFO	Syndromic cataract	Stickler syndrome type 1
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:90653	"" []	2047032	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Stickler syndrome type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90653	"" []	3197042	\N	\N	EFO	5	EFO	genetic disorder	Stickler syndrome type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:90653	"" []	3197043	\N	\N	EFO	5	EFO	bone disease	Stickler syndrome type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90653	"" []	6153063	\N	\N	EFO	8	EFO	genetic disorder	Stickler syndrome type 1
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:90653	"" []	3197041	\N	\N	EFO	5	EFO	Rare otorhinolaryngological malformation	Stickler syndrome type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:90653	"" []	3197044	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Stickler syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90653	"" []	6379011	\N	\N	EFO	9	EFO	disease	Stickler syndrome type 1
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90653	"" []	3197046	\N	\N	EFO	5	EFO	sensory system disease	Stickler syndrome type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90653	"" []	6379012	\N	\N	EFO	9	EFO	disease	Stickler syndrome type 1
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:90653	"" []	3197048	\N	\N	EFO	5	EFO	Rare cataract	Stickler syndrome type 1
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:90653	"" []	3197049	\N	\N	EFO	5	EFO	Rare genetic eye disease	Stickler syndrome type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:90653	"" []	4134463	\N	\N	EFO	6	EFO	skeletal system disease	Stickler syndrome type 1
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:90653	"" []	4402559	\N	\N	EFO	6	EFO	Genetic head and neck malformation	Stickler syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90653	"" []	6778852	\N	\N	EFO	10	EFO	disposition	Stickler syndrome type 1
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90653	"" []	4402562	\N	\N	EFO	6	EFO	nervous system disease	Stickler syndrome type 1
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:90653	"" []	4402563	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Stickler syndrome type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90653	"" []	5183546	\N	\N	EFO	7	EFO	disease	Stickler syndrome type 1
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:90653	"" []	5418529	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Stickler syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90653	"" []	7030038	\N	\N	EFO	11	EFO	material property	Stickler syndrome type 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90653	"" []	5418531	\N	\N	EFO	7	EFO	disease	Stickler syndrome type 1
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:90653	"" []	5418532	\N	\N	EFO	7	EFO	Rare genetic eye disease	Stickler syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90653	"" []	7181833	\N	\N	EFO	12	EFO	experimental factor	Stickler syndrome type 1
Orphanet:90654	\N	\N	"" []	Orphanet:90654	"" []	78382	\N	\N	EFO	0	EFO	Stickler syndrome type 2	Stickler syndrome type 2
Orphanet:828	Orphanet:90654	\N	"" []	Orphanet:90654	"" []	223149	\N	\N	EFO	1	EFO	Stickler syndrome	Stickler syndrome type 2
Orphanet:93422	Orphanet:90654	\N	"" []	Orphanet:90654	"" []	223150	\N	\N	EFO	1	EFO	Type 11 collagen-related bone disorder	Stickler syndrome type 2
Orphanet:108987	Orphanet:828	\N	"" []	Orphanet:90654	"" []	579618	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Stickler syndrome type 2
Orphanet:138041	Orphanet:828	\N	"" []	Orphanet:90654	"" []	579619	\N	\N	EFO	2	EFO	Pierre Robin syndrome associated with collagen disease	Stickler syndrome type 2
Orphanet:253	Orphanet:828	\N	"" []	Orphanet:90654	"" []	579620	\N	\N	EFO	2	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Stickler syndrome type 2
Orphanet:90642	Orphanet:828	\N	"" []	Orphanet:90654	"" []	579621	\N	\N	EFO	2	EFO	Syndromic genetic deafness	Stickler syndrome type 2
Orphanet:98620	Orphanet:828	\N	"" []	Orphanet:90654	"" []	579622	\N	\N	EFO	2	EFO	Syndromic myopia	Stickler syndrome type 2
Orphanet:98638	Orphanet:828	\N	"" []	Orphanet:90654	"" []	579623	\N	\N	EFO	2	EFO	Rare disease with glaucoma as a major feature	Stickler syndrome type 2
Orphanet:98648	Orphanet:828	\N	"" []	Orphanet:90654	"" []	579624	\N	\N	EFO	2	EFO	Musculoskeletal disease with cataract	Stickler syndrome type 2
Orphanet:98670	Orphanet:828	\N	"" []	Orphanet:90654	"" []	579625	\N	\N	EFO	2	EFO	Vitreoretinal degeneration	Stickler syndrome type 2
Orphanet:364803	Orphanet:93422	\N	"" []	Orphanet:90654	"" []	579626	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Stickler syndrome type 2
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:90654	"" []	1163337	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Stickler syndrome type 2
Orphanet:363294	Orphanet:138041	\N	"" []	Orphanet:90654	"" []	1163338	\N	\N	EFO	3	EFO	Genetic syndromic Pierre Robin syndrome	Stickler syndrome type 2
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:90654	"" []	1163339	\N	\N	EFO	3	EFO	Primary bone dysplasia	Stickler syndrome type 2
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90654	"" []	1163340	\N	\N	EFO	3	EFO	Rare genetic deafness	Stickler syndrome type 2
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:90654	"" []	1163341	\N	\N	EFO	3	EFO	Rare genetic refraction anomaly	Stickler syndrome type 2
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:90654	"" []	1163342	\N	\N	EFO	3	EFO	Rare genetic eye disease	Stickler syndrome type 2
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:90654	"" []	1163343	\N	\N	EFO	3	EFO	Systemic disease with cataract	Stickler syndrome type 2
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:90654	"" []	1163344	\N	\N	EFO	3	EFO	Vitreoretinopathy	Stickler syndrome type 2
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:90654	"" []	1163345	\N	\N	EFO	3	EFO	Rare genetic bone disease	Stickler syndrome type 2
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:90654	"" []	2047035	\N	\N	EFO	4	EFO	Rare genetic eye disease	Stickler syndrome type 2
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:90654	"" []	2047036	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Stickler syndrome type 2
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:90654	"" []	2047037	\N	\N	EFO	4	EFO	Syndrome or malformation associated with head and neck malformations	Stickler syndrome type 2
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:90654	"" []	2047038	\N	\N	EFO	4	EFO	Rare genetic bone disease	Stickler syndrome type 2
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:90654	"" []	2047039	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Stickler syndrome type 2
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90654	"" []	2047040	\N	\N	EFO	4	EFO	genetic disorder	Stickler syndrome type 2
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90654	"" []	2047041	\N	\N	EFO	4	EFO	auditory system disease	Stickler syndrome type 2
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:90654	"" []	2047042	\N	\N	EFO	4	EFO	Rare genetic eye disease	Stickler syndrome type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90654	"" []	6153069	\N	\N	EFO	8	EFO	genetic disorder	Stickler syndrome type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:90654	"" []	6153070	\N	\N	EFO	8	EFO	eye disease	Stickler syndrome type 2
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:90654	"" []	2047045	\N	\N	EFO	4	EFO	Syndromic cataract	Stickler syndrome type 2
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:90654	"" []	2047046	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Stickler syndrome type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90654	"" []	3197055	\N	\N	EFO	5	EFO	genetic disorder	Stickler syndrome type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:90654	"" []	3197056	\N	\N	EFO	5	EFO	bone disease	Stickler syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90654	"" []	6153067	\N	\N	EFO	8	EFO	genetic disorder	Stickler syndrome type 2
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:90654	"" []	3197054	\N	\N	EFO	5	EFO	Rare otorhinolaryngological malformation	Stickler syndrome type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:90654	"" []	3197057	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Stickler syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90654	"" []	6379013	\N	\N	EFO	9	EFO	disease	Stickler syndrome type 2
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90654	"" []	3197059	\N	\N	EFO	5	EFO	sensory system disease	Stickler syndrome type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90654	"" []	6379014	\N	\N	EFO	9	EFO	disease	Stickler syndrome type 2
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:90654	"" []	3197061	\N	\N	EFO	5	EFO	Rare cataract	Stickler syndrome type 2
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:90654	"" []	3197062	\N	\N	EFO	5	EFO	Rare genetic eye disease	Stickler syndrome type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:90654	"" []	4134466	\N	\N	EFO	6	EFO	skeletal system disease	Stickler syndrome type 2
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:90654	"" []	4402567	\N	\N	EFO	6	EFO	Genetic head and neck malformation	Stickler syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90654	"" []	6778853	\N	\N	EFO	10	EFO	disposition	Stickler syndrome type 2
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90654	"" []	4402570	\N	\N	EFO	6	EFO	nervous system disease	Stickler syndrome type 2
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:90654	"" []	4402571	\N	\N	EFO	6	EFO	Genetic lens and zonula anomaly	Stickler syndrome type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90654	"" []	5183548	\N	\N	EFO	7	EFO	disease	Stickler syndrome type 2
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:90654	"" []	5418533	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Stickler syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90654	"" []	7030039	\N	\N	EFO	11	EFO	material property	Stickler syndrome type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90654	"" []	5418535	\N	\N	EFO	7	EFO	disease	Stickler syndrome type 2
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:90654	"" []	5418536	\N	\N	EFO	7	EFO	Rare genetic eye disease	Stickler syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90654	"" []	7181834	\N	\N	EFO	12	EFO	experimental factor	Stickler syndrome type 2
Orphanet:90658	\N	\N	"" []	Orphanet:90658	"" []	78383	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 1E	Charcot-Marie-Tooth disease type 1E
Orphanet:65753	Orphanet:90658	\N	"" []	Orphanet:90658	"" []	223151	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth disease type 1E
Orphanet:90642	Orphanet:90658	\N	"" []	Orphanet:90658	"" []	223152	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Charcot-Marie-Tooth disease type 1E
Orphanet:140453	Orphanet:65753	\N	"" []	Orphanet:90658	"" []	579627	\N	\N	EFO	2	EFO	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1E
Orphanet:166	Orphanet:65753	\N	"" []	Orphanet:90658	"" []	579628	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 1E
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:90658	"" []	579629	\N	\N	EFO	2	EFO	Rare genetic deafness	Charcot-Marie-Tooth disease type 1E
Orphanet:140450	Orphanet:140453	\N	"" []	Orphanet:90658	"" []	1163346	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 1E
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:90658	"" []	1163347	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1E
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90658	"" []	1163348	\N	\N	EFO	3	EFO	genetic disorder	Charcot-Marie-Tooth disease type 1E
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:90658	"" []	1163349	\N	\N	EFO	3	EFO	auditory system disease	Charcot-Marie-Tooth disease type 1E
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:90658	"" []	2047049	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 1E
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:90658	"" []	2047050	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 1E
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:90658	"" []	3197065	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 1E
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90658	"" []	5183549	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 1E
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:90658	"" []	2047053	\N	\N	EFO	4	EFO	sensory system disease	Charcot-Marie-Tooth disease type 1E
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:90658	"" []	3197064	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 1E
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90658	"" []	4134467	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 1E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90658	"" []	5817896	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 1E
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90658	"" []	3197068	\N	\N	EFO	5	EFO	nervous system disease	Charcot-Marie-Tooth disease type 1E
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:90658	"" []	4402575	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 1E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90658	"" []	6410408	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 1E
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90658	"" []	5418537	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 1E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90658	"" []	6808209	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 1E
Orphanet:90673	\N	\N	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	78384	\N	\N	EFO	0	EFO	Hypothyroidism due to TSH receptor mutations	Hypothyroidism due to TSH receptor mutations
Orphanet:95714	Orphanet:90673	\N	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	223153	\N	\N	EFO	1	EFO	Primary congenital hypothyroidism without thyroid developmental anomaly	Hypothyroidism due to TSH receptor mutations
Orphanet:226295	Orphanet:95714	\N	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	579630	\N	\N	EFO	2	EFO	Primary congenital hypothyroidism	Hypothyroidism due to TSH receptor mutations
Orphanet:226292	Orphanet:226295	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	1163350	\N	\N	EFO	3	EFO	Permanent congenital hypothyroidism	Hypothyroidism due to TSH receptor mutations
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	2047054	\N	\N	EFO	4	EFO	Congenital hypothyroidism	Hypothyroidism due to TSH receptor mutations
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	3197069	\N	\N	EFO	5	EFO	Rare hypothyroidism	Hypothyroidism due to TSH receptor mutations
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	4402579	\N	\N	EFO	6	EFO	Rare genetic thyroid disease	Hypothyroidism due to TSH receptor mutations
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	5418539	\N	\N	EFO	7	EFO	thyroid disease	Hypothyroidism due to TSH receptor mutations
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	5418540	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Hypothyroidism due to TSH receptor mutations
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	6153071	\N	\N	EFO	8	EFO	endocrine system disease	Hypothyroidism due to TSH receptor mutations
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	6153072	\N	\N	EFO	8	EFO	genetic disorder	Hypothyroidism due to TSH receptor mutations
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	6153073	\N	\N	EFO	8	EFO	endocrine system disease	Hypothyroidism due to TSH receptor mutations
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	6634249	\N	\N	EFO	9	EFO	disease	Hypothyroidism due to TSH receptor mutations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	6634250	\N	\N	EFO	9	EFO	disease	Hypothyroidism due to TSH receptor mutations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	6926284	\N	\N	EFO	10	EFO	disposition	Hypothyroidism due to TSH receptor mutations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	7099320	\N	\N	EFO	11	EFO	material property	Hypothyroidism due to TSH receptor mutations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90673	"Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." []	7208358	\N	\N	EFO	12	EFO	experimental factor	Hypothyroidism due to TSH receptor mutations
Orphanet:90674	\N	\N	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	78385	\N	\N	EFO	0	EFO	Isolated thyroid-stimulating hormone deficiency	Isolated thyroid-stimulating hormone deficiency
Orphanet:226298	Orphanet:90674	\N	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	223154	\N	\N	EFO	1	EFO	Central congenital hypothyroidism	Isolated thyroid-stimulating hormone deficiency
Orphanet:95488	Orphanet:90674	\N	"" []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	223155	\N	\N	EFO	1	EFO	Non-acquired pituitary hormone deficiency	Isolated thyroid-stimulating hormone deficiency
Orphanet:226292	Orphanet:226298	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	579631	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Isolated thyroid-stimulating hormone deficiency
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	579632	\N	\N	EFO	2	EFO	Pituitary deficiency	Isolated thyroid-stimulating hormone deficiency
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	1163351	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Isolated thyroid-stimulating hormone deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	1163352	\N	\N	EFO	3	EFO	Rare genetic hypothalamic or pituitary disease	Isolated thyroid-stimulating hormone deficiency
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	2047055	\N	\N	EFO	4	EFO	Rare hypothyroidism	Isolated thyroid-stimulating hormone deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	2047056	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Isolated thyroid-stimulating hormone deficiency
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	3197070	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Isolated thyroid-stimulating hormone deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	5418542	\N	\N	EFO	7	EFO	genetic disorder	Isolated thyroid-stimulating hormone deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	5418543	\N	\N	EFO	7	EFO	endocrine system disease	Isolated thyroid-stimulating hormone deficiency
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	4402580	\N	\N	EFO	6	EFO	thyroid disease	Isolated thyroid-stimulating hormone deficiency
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	4402581	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Isolated thyroid-stimulating hormone deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	5877837	\N	\N	EFO	8	EFO	disease	Isolated thyroid-stimulating hormone deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	5877838	\N	\N	EFO	8	EFO	disease	Isolated thyroid-stimulating hormone deficiency
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	5418541	\N	\N	EFO	7	EFO	endocrine system disease	Isolated thyroid-stimulating hormone deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	6471056	\N	\N	EFO	9	EFO	disposition	Isolated thyroid-stimulating hormone deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	6848867	\N	\N	EFO	10	EFO	material property	Isolated thyroid-stimulating hormone deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90674	"Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." []	7068543	\N	\N	EFO	11	EFO	experimental factor	Isolated thyroid-stimulating hormone deficiency
Orphanet:90695	\N	\N	"" []	Orphanet:90695	"" []	78386	\N	\N	EFO	0	EFO	Panhypopituitarism	Panhypopituitarism
Orphanet:178025	Orphanet:90695	\N	"" []	Orphanet:90695	"" []	223156	\N	\N	EFO	1	EFO	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations	Panhypopituitarism
Orphanet:181390	Orphanet:90695	\N	"" []	Orphanet:90695	"" []	223157	\N	\N	EFO	1	EFO	Hypogonadotropic hypogonadism associated with other endocrinopathies	Panhypopituitarism
Orphanet:467	Orphanet:178025	\N	"" []	Orphanet:90695	"" []	579633	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	Panhypopituitarism
Orphanet:174590	Orphanet:181390	\N	"" []	Orphanet:90695	"" []	579634	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Panhypopituitarism
Orphanet:399839	Orphanet:181390	\N	"" []	Orphanet:90695	"" []	579635	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Panhypopituitarism
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:90695	"" []	1163353	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Panhypopituitarism
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:90695	"" []	1163354	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Panhypopituitarism
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:90695	"" []	1163355	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Panhypopituitarism
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:90695	"" []	1163356	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Panhypopituitarism
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:90695	"" []	1163357	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Panhypopituitarism
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:90695	"" []	2047057	\N	\N	EFO	4	EFO	Pituitary deficiency	Panhypopituitarism
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:90695	"" []	2047058	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Panhypopituitarism
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:90695	"" []	2047059	\N	\N	EFO	4	EFO	Rare genetic male infertility	Panhypopituitarism
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:90695	"" []	2047060	\N	\N	EFO	4	EFO	Rare genetic female infertility	Panhypopituitarism
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:90695	"" []	3197073	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Panhypopituitarism
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90695	"" []	3197074	\N	\N	EFO	5	EFO	genetic disorder	Panhypopituitarism
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:90695	"" []	3197075	\N	\N	EFO	5	EFO	reproductive system disease	Panhypopituitarism
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:90695	"" []	3197076	\N	\N	EFO	5	EFO	Genetic infertility	Panhypopituitarism
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:90695	"" []	3197077	\N	\N	EFO	5	EFO	Genetic infertility	Panhypopituitarism
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:90695	"" []	4402584	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Panhypopituitarism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90695	"" []	6153075	\N	\N	EFO	8	EFO	disease	Panhypopituitarism
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90695	"" []	5418549	\N	\N	EFO	7	EFO	disease	Panhypopituitarism
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90695	"" []	4402587	\N	\N	EFO	6	EFO	genetic disorder	Panhypopituitarism
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:90695	"" []	4402588	\N	\N	EFO	6	EFO	reproductive system disease	Panhypopituitarism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90695	"" []	5418545	\N	\N	EFO	7	EFO	genetic disorder	Panhypopituitarism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90695	"" []	5418546	\N	\N	EFO	7	EFO	endocrine system disease	Panhypopituitarism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90695	"" []	6471057	\N	\N	EFO	9	EFO	disposition	Panhypopituitarism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90695	"" []	6153076	\N	\N	EFO	8	EFO	disease	Panhypopituitarism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90695	"" []	6848868	\N	\N	EFO	10	EFO	material property	Panhypopituitarism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90695	"" []	7068544	\N	\N	EFO	11	EFO	experimental factor	Panhypopituitarism
Orphanet:90776	\N	\N	"" []	Orphanet:90776	"" []	78387	\N	\N	EFO	0	EFO	46,XX disorder of sex development induced by fetal androgens excess	46,XX disorder of sex development induced by fetal androgens excess
Orphanet:325665	Orphanet:90776	\N	"" []	Orphanet:90776	"" []	223158	\N	\N	EFO	1	EFO	Genetic disorder of sex development of gynecological interest	46,XX disorder of sex development induced by fetal androgens excess
Orphanet:325697	Orphanet:90776	\N	"" []	Orphanet:90776	"" []	223159	\N	\N	EFO	1	EFO	Genetic 46,XX disorder of sex development	46,XX disorder of sex development induced by fetal androgens excess
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:90776	"" []	579636	\N	\N	EFO	2	EFO	Rare genetic gynecological and obstetrical diseases	46,XX disorder of sex development induced by fetal androgens excess
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:90776	"" []	579637	\N	\N	EFO	2	EFO	Genetic disorder of sex development	46,XX disorder of sex development induced by fetal androgens excess
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90776	"" []	1163358	\N	\N	EFO	3	EFO	genetic disorder	46,XX disorder of sex development induced by fetal androgens excess
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:90776	"" []	1163359	\N	\N	EFO	3	EFO	reproductive system disease	46,XX disorder of sex development induced by fetal androgens excess
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:90776	"" []	1163360	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	46,XX disorder of sex development induced by fetal androgens excess
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:90776	"" []	1163361	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	46,XX disorder of sex development induced by fetal androgens excess
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:90776	"" []	1163362	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	46,XX disorder of sex development induced by fetal androgens excess
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90776	"" []	3197079	\N	\N	EFO	5	EFO	disease	46,XX disorder of sex development induced by fetal androgens excess
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90776	"" []	2047062	\N	\N	EFO	4	EFO	disease	46,XX disorder of sex development induced by fetal androgens excess
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90776	"" []	2047063	\N	\N	EFO	4	EFO	genetic disorder	46,XX disorder of sex development induced by fetal androgens excess
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90776	"" []	2047064	\N	\N	EFO	4	EFO	genetic disorder	46,XX disorder of sex development induced by fetal androgens excess
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90776	"" []	2047065	\N	\N	EFO	4	EFO	endocrine system disease	46,XX disorder of sex development induced by fetal androgens excess
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90776	"" []	2047066	\N	\N	EFO	4	EFO	genetic disorder	46,XX disorder of sex development induced by fetal androgens excess
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90776	"" []	4134468	\N	\N	EFO	6	EFO	disposition	46,XX disorder of sex development induced by fetal androgens excess
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90776	"" []	3197080	\N	\N	EFO	5	EFO	disease	46,XX disorder of sex development induced by fetal androgens excess
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90776	"" []	5183550	\N	\N	EFO	7	EFO	material property	46,XX disorder of sex development induced by fetal androgens excess
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90776	"" []	5998867	\N	\N	EFO	8	EFO	experimental factor	46,XX disorder of sex development induced by fetal androgens excess
Orphanet:90783	\N	\N	"" []	Orphanet:90783	"" []	78388	\N	\N	EFO	0	EFO	46,XY disorder of sex development due to testosterone synthesis defect	46,XY disorder of sex development due to testosterone synthesis defect
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:90783	"" []	223160	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to impaired androgen production	46,XY disorder of sex development due to testosterone synthesis defect
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:90783	"" []	579638	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development of endocrine origin	46,XY disorder of sex development due to testosterone synthesis defect
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:90783	"" []	1163363	\N	\N	EFO	3	EFO	Genetic 46,XY disorder of sex development	46,XY disorder of sex development due to testosterone synthesis defect
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:90783	"" []	2047067	\N	\N	EFO	4	EFO	Genetic disorder of sex development	46,XY disorder of sex development due to testosterone synthesis defect
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:90783	"" []	3197081	\N	\N	EFO	5	EFO	Rare genetic urogenital disease	46,XY disorder of sex development due to testosterone synthesis defect
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:90783	"" []	3197082	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	46,XY disorder of sex development due to testosterone synthesis defect
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:90783	"" []	3197083	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	46,XY disorder of sex development due to testosterone synthesis defect
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90783	"" []	4402590	\N	\N	EFO	6	EFO	genetic disorder	46,XY disorder of sex development due to testosterone synthesis defect
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90783	"" []	4402591	\N	\N	EFO	6	EFO	genetic disorder	46,XY disorder of sex development due to testosterone synthesis defect
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90783	"" []	4402592	\N	\N	EFO	6	EFO	endocrine system disease	46,XY disorder of sex development due to testosterone synthesis defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90783	"" []	4402593	\N	\N	EFO	6	EFO	genetic disorder	46,XY disorder of sex development due to testosterone synthesis defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90783	"" []	5418551	\N	\N	EFO	7	EFO	disease	46,XY disorder of sex development due to testosterone synthesis defect
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90783	"" []	5418552	\N	\N	EFO	7	EFO	disease	46,XY disorder of sex development due to testosterone synthesis defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90783	"" []	6153078	\N	\N	EFO	8	EFO	disposition	46,XY disorder of sex development due to testosterone synthesis defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90783	"" []	6634253	\N	\N	EFO	9	EFO	material property	46,XY disorder of sex development due to testosterone synthesis defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90783	"" []	6926285	\N	\N	EFO	10	EFO	experimental factor	46,XY disorder of sex development due to testosterone synthesis defect
Orphanet:90786	\N	\N	"" []	Orphanet:90786	"" []	78389	\N	\N	EFO	0	EFO	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Orphanet:325632	Orphanet:90786	\N	"" []	Orphanet:90786	"" []	223161	\N	\N	EFO	1	EFO	46,XY disorder of sex development of gynecological interest	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Orphanet:90783	Orphanet:90786	\N	"" []	Orphanet:90786	"" []	223162	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to testosterone synthesis defect	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:90786	"" []	579639	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:90786	"" []	579640	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to impaired androgen production	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:90786	"" []	1163364	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:90786	"" []	1163365	\N	\N	EFO	3	EFO	Genetic 46,XY disorder of sex development of endocrine origin	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90786	"" []	2047068	\N	\N	EFO	4	EFO	genetic disorder	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:90786	"" []	2047069	\N	\N	EFO	4	EFO	reproductive system disease	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:90786	"" []	2047070	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90786	"" []	6153080	\N	\N	EFO	8	EFO	disease	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90786	"" []	3197085	\N	\N	EFO	5	EFO	disease	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:90786	"" []	3197086	\N	\N	EFO	5	EFO	Genetic disorder of sex development	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90786	"" []	6410409	\N	\N	EFO	9	EFO	disposition	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:90786	"" []	4402595	\N	\N	EFO	6	EFO	Rare genetic urogenital disease	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:90786	"" []	4402596	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:90786	"" []	4402597	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90786	"" []	6808210	\N	\N	EFO	10	EFO	material property	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90786	"" []	5418554	\N	\N	EFO	7	EFO	genetic disorder	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90786	"" []	5418555	\N	\N	EFO	7	EFO	genetic disorder	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90786	"" []	5418556	\N	\N	EFO	7	EFO	endocrine system disease	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90786	"" []	5418557	\N	\N	EFO	7	EFO	genetic disorder	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90786	"" []	7048832	\N	\N	EFO	11	EFO	experimental factor	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90786	"" []	6153081	\N	\N	EFO	8	EFO	disease	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Orphanet:90787	\N	\N	"" []	Orphanet:90787	"" []	78390	\N	\N	EFO	0	EFO	46,XY disorder of sex development due to testicular steroidogenesis defect	46,XY disorder of sex development due to testicular steroidogenesis defect
Orphanet:325632	Orphanet:90787	\N	"" []	Orphanet:90787	"" []	223163	\N	\N	EFO	1	EFO	46,XY disorder of sex development of gynecological interest	46,XY disorder of sex development due to testicular steroidogenesis defect
Orphanet:90783	Orphanet:90787	\N	"" []	Orphanet:90787	"" []	223164	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to testosterone synthesis defect	46,XY disorder of sex development due to testicular steroidogenesis defect
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:90787	"" []	579641	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	46,XY disorder of sex development due to testicular steroidogenesis defect
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:90787	"" []	579642	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to impaired androgen production	46,XY disorder of sex development due to testicular steroidogenesis defect
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:90787	"" []	1163366	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	46,XY disorder of sex development due to testicular steroidogenesis defect
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:90787	"" []	1163367	\N	\N	EFO	3	EFO	Genetic 46,XY disorder of sex development of endocrine origin	46,XY disorder of sex development due to testicular steroidogenesis defect
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90787	"" []	2047071	\N	\N	EFO	4	EFO	genetic disorder	46,XY disorder of sex development due to testicular steroidogenesis defect
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:90787	"" []	2047072	\N	\N	EFO	4	EFO	reproductive system disease	46,XY disorder of sex development due to testicular steroidogenesis defect
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:90787	"" []	2047073	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development	46,XY disorder of sex development due to testicular steroidogenesis defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90787	"" []	6153083	\N	\N	EFO	8	EFO	disease	46,XY disorder of sex development due to testicular steroidogenesis defect
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90787	"" []	3197088	\N	\N	EFO	5	EFO	disease	46,XY disorder of sex development due to testicular steroidogenesis defect
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:90787	"" []	3197089	\N	\N	EFO	5	EFO	Genetic disorder of sex development	46,XY disorder of sex development due to testicular steroidogenesis defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90787	"" []	6410410	\N	\N	EFO	9	EFO	disposition	46,XY disorder of sex development due to testicular steroidogenesis defect
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:90787	"" []	4402599	\N	\N	EFO	6	EFO	Rare genetic urogenital disease	46,XY disorder of sex development due to testicular steroidogenesis defect
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:90787	"" []	4402600	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	46,XY disorder of sex development due to testicular steroidogenesis defect
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:90787	"" []	4402601	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	46,XY disorder of sex development due to testicular steroidogenesis defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90787	"" []	6808211	\N	\N	EFO	10	EFO	material property	46,XY disorder of sex development due to testicular steroidogenesis defect
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90787	"" []	5418559	\N	\N	EFO	7	EFO	genetic disorder	46,XY disorder of sex development due to testicular steroidogenesis defect
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90787	"" []	5418560	\N	\N	EFO	7	EFO	genetic disorder	46,XY disorder of sex development due to testicular steroidogenesis defect
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90787	"" []	5418561	\N	\N	EFO	7	EFO	endocrine system disease	46,XY disorder of sex development due to testicular steroidogenesis defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90787	"" []	5418562	\N	\N	EFO	7	EFO	genetic disorder	46,XY disorder of sex development due to testicular steroidogenesis defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90787	"" []	7048833	\N	\N	EFO	11	EFO	experimental factor	46,XY disorder of sex development due to testicular steroidogenesis defect
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90787	"" []	6153084	\N	\N	EFO	8	EFO	disease	46,XY disorder of sex development due to testicular steroidogenesis defect
Orphanet:90790	\N	\N	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	78391	\N	\N	EFO	0	EFO	Congenital lipoid adrenal hyperplasia due to STAR deficency	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:400018	Orphanet:90790	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	223165	\N	\N	EFO	1	EFO	Rare female infertility due to adrenal disorder of genetic origin	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:418	Orphanet:90790	\N	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	223166	\N	\N	EFO	1	EFO	Congenital adrenal hyperplasia	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:90786	Orphanet:90790	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	223167	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:95710	Orphanet:90790	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	223168	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:400011	Orphanet:400018	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	579643	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:101960	Orphanet:418	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	579644	\N	\N	EFO	2	EFO	Genetic chronic primary adrenal insufficiency	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:181412	Orphanet:418	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	579645	\N	\N	EFO	2	EFO	Adrenogenital syndrome	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325632	Orphanet:90786	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	579646	\N	\N	EFO	2	EFO	46,XY disorder of sex development of gynecological interest	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:90783	Orphanet:90786	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	579647	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to testosterone synthesis defect	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	579648	\N	\N	EFO	2	EFO	ovarian disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	579649	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	579650	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	1163368	\N	\N	EFO	3	EFO	Rare genetic female infertility	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	1163369	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	1163370	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	1163371	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	1163372	\N	\N	EFO	3	EFO	46,XY disorder of sex development due to impaired androgen production	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	1163373	\N	\N	EFO	3	EFO	reproductive system disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	6153086	\N	\N	EFO	8	EFO	genetic disorder	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	6153087	\N	\N	EFO	8	EFO	endocrine system disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	1163376	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	2047074	\N	\N	EFO	4	EFO	Genetic infertility	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	2047075	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	2047076	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	2047077	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	4134470	\N	\N	EFO	6	EFO	disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	6370836	\N	\N	EFO	9	EFO	disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	6370837	\N	\N	EFO	9	EFO	disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	3197094	\N	\N	EFO	5	EFO	genetic disorder	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	3197095	\N	\N	EFO	5	EFO	reproductive system disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	3197090	\N	\N	EFO	5	EFO	genetic disorder	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	3197091	\N	\N	EFO	5	EFO	reproductive system disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	3197096	\N	\N	EFO	5	EFO	Genetic 46,XY disorder of sex development	Congenital lipoid adrenal hyperplasia due to STAR deficency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	6762404	\N	\N	EFO	10	EFO	disposition	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	4402602	\N	\N	EFO	6	EFO	Genetic disorder of sex development	Congenital lipoid adrenal hyperplasia due to STAR deficency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	7015717	\N	\N	EFO	11	EFO	material property	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	5418563	\N	\N	EFO	7	EFO	Rare genetic urogenital disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	5418564	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	5418565	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	7173662	\N	\N	EFO	12	EFO	experimental factor	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	6153085	\N	\N	EFO	8	EFO	genetic disorder	Congenital lipoid adrenal hyperplasia due to STAR deficency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90790	"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." []	6153088	\N	\N	EFO	8	EFO	genetic disorder	Congenital lipoid adrenal hyperplasia due to STAR deficency
Orphanet:90791	\N	\N	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	78392	\N	\N	EFO	0	EFO	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:418	Orphanet:90791	\N	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	223169	\N	\N	EFO	1	EFO	Congenital adrenal hyperplasia	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:90776	Orphanet:90791	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	223170	\N	\N	EFO	1	EFO	46,XX disorder of sex development induced by fetal androgens excess	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:90786	Orphanet:90791	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	223171	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:101960	Orphanet:418	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	579651	\N	\N	EFO	2	EFO	Genetic chronic primary adrenal insufficiency	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:181412	Orphanet:418	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	579652	\N	\N	EFO	2	EFO	Adrenogenital syndrome	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:325665	Orphanet:90776	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	579653	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:325697	Orphanet:90776	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	579654	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:325632	Orphanet:90786	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	579655	\N	\N	EFO	2	EFO	46,XY disorder of sex development of gynecological interest	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:90783	Orphanet:90786	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	579656	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to testosterone synthesis defect	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	1163377	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	1163378	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	2047089	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	1163380	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	1163381	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	1163382	\N	\N	EFO	3	EFO	46,XY disorder of sex development due to impaired androgen production	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	2047083	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	3000483	\N	\N	EFO	5	EFO	genetic disorder	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	3000484	\N	\N	EFO	5	EFO	reproductive system disease	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	5418568	\N	\N	EFO	7	EFO	Rare genetic urogenital disease	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	5418569	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	5418570	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	2047090	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	5817898	\N	\N	EFO	8	EFO	genetic disorder	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	5817899	\N	\N	EFO	8	EFO	endocrine system disease	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	6410411	\N	\N	EFO	9	EFO	disease	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	4134472	\N	\N	EFO	6	EFO	disease	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	5817897	\N	\N	EFO	8	EFO	genetic disorder	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	5817900	\N	\N	EFO	8	EFO	genetic disorder	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	3197106	\N	\N	EFO	5	EFO	Genetic 46,XY disorder of sex development	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	6410412	\N	\N	EFO	9	EFO	disease	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	6778854	\N	\N	EFO	10	EFO	disposition	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	4402606	\N	\N	EFO	6	EFO	Genetic disorder of sex development	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	7030040	\N	\N	EFO	11	EFO	material property	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90791	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." []	7181835	\N	\N	EFO	12	EFO	experimental factor	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Orphanet:90793	\N	\N	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	78393	\N	\N	EFO	0	EFO	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:399994	Orphanet:90793	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	223172	\N	\N	EFO	1	EFO	Rare male infertility due to adrenal disorder of genetic origin	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:400018	Orphanet:90793	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	223173	\N	\N	EFO	1	EFO	Rare female infertility due to adrenal disorder of genetic origin	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:418	Orphanet:90793	\N	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	223174	\N	\N	EFO	1	EFO	Congenital adrenal hyperplasia	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:90786	Orphanet:90793	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	223175	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:95710	Orphanet:90793	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	223176	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:399983	Orphanet:399994	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	579657	\N	\N	EFO	2	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:400011	Orphanet:400018	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	579658	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:101960	Orphanet:418	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	579659	\N	\N	EFO	2	EFO	Genetic chronic primary adrenal insufficiency	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:181412	Orphanet:418	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	579660	\N	\N	EFO	2	EFO	Adrenogenital syndrome	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:325632	Orphanet:90786	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	579661	\N	\N	EFO	2	EFO	46,XY disorder of sex development of gynecological interest	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:90783	Orphanet:90786	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	579662	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to testosterone synthesis defect	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	579663	\N	\N	EFO	2	EFO	ovarian disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	579664	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	579665	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	1163383	\N	\N	EFO	3	EFO	Rare genetic male infertility	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	1163384	\N	\N	EFO	3	EFO	Rare genetic female infertility	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	1163385	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	1163386	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	1163387	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	1163388	\N	\N	EFO	3	EFO	46,XY disorder of sex development due to impaired androgen production	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	1163389	\N	\N	EFO	3	EFO	reproductive system disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	6153091	\N	\N	EFO	8	EFO	genetic disorder	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	6153092	\N	\N	EFO	8	EFO	endocrine system disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	1163392	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	2047091	\N	\N	EFO	4	EFO	Genetic infertility	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	2047092	\N	\N	EFO	4	EFO	Genetic infertility	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	2047093	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	2047094	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	2047095	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	4134474	\N	\N	EFO	6	EFO	disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	6370838	\N	\N	EFO	9	EFO	disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	6370839	\N	\N	EFO	9	EFO	disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	3197111	\N	\N	EFO	5	EFO	genetic disorder	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	3197112	\N	\N	EFO	5	EFO	reproductive system disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	3197107	\N	\N	EFO	5	EFO	genetic disorder	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	3197108	\N	\N	EFO	5	EFO	reproductive system disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	3197113	\N	\N	EFO	5	EFO	Genetic 46,XY disorder of sex development	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	6762405	\N	\N	EFO	10	EFO	disposition	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	4402607	\N	\N	EFO	6	EFO	Genetic disorder of sex development	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	7015718	\N	\N	EFO	11	EFO	material property	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	5418571	\N	\N	EFO	7	EFO	Rare genetic urogenital disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	5418572	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	5418573	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	7173663	\N	\N	EFO	12	EFO	experimental factor	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	6153090	\N	\N	EFO	8	EFO	genetic disorder	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90793	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." []	6153093	\N	\N	EFO	8	EFO	genetic disorder	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Orphanet:90794	\N	\N	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	78394	\N	\N	EFO	0	EFO	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:399994	Orphanet:90794	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	223177	\N	\N	EFO	1	EFO	Rare male infertility due to adrenal disorder of genetic origin	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:400018	Orphanet:90794	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	223178	\N	\N	EFO	1	EFO	Rare female infertility due to adrenal disorder of genetic origin	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:418	Orphanet:90794	\N	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	223179	\N	\N	EFO	1	EFO	Congenital adrenal hyperplasia	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:90776	Orphanet:90794	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	223180	\N	\N	EFO	1	EFO	46,XX disorder of sex development induced by fetal androgens excess	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:399983	Orphanet:399994	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	579666	\N	\N	EFO	2	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:400011	Orphanet:400018	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	579667	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:101960	Orphanet:418	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	579668	\N	\N	EFO	2	EFO	Genetic chronic primary adrenal insufficiency	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:181412	Orphanet:418	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	579669	\N	\N	EFO	2	EFO	Adrenogenital syndrome	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:325665	Orphanet:90776	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	579670	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:325697	Orphanet:90776	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	579671	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	1163393	\N	\N	EFO	3	EFO	Rare genetic male infertility	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	1163394	\N	\N	EFO	3	EFO	Rare genetic female infertility	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	1163395	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	1163396	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	1163397	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	1163398	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	2047101	\N	\N	EFO	4	EFO	Genetic infertility	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	2047102	\N	\N	EFO	4	EFO	Genetic infertility	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	2047103	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	2047104	\N	\N	EFO	4	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	2047105	\N	\N	EFO	4	EFO	reproductive system disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	2047106	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	2047107	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	2047108	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	3197117	\N	\N	EFO	5	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	3197118	\N	\N	EFO	5	EFO	reproductive system disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	3197119	\N	\N	EFO	5	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	3197120	\N	\N	EFO	5	EFO	endocrine system disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	4402609	\N	\N	EFO	6	EFO	disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	4402610	\N	\N	EFO	6	EFO	disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	3197123	\N	\N	EFO	5	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	3197124	\N	\N	EFO	5	EFO	genetic disorder	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	4402611	\N	\N	EFO	6	EFO	disease	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	5183554	\N	\N	EFO	7	EFO	disposition	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	5998871	\N	\N	EFO	8	EFO	material property	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90794	"Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration, hypoglycemia in the neonatal period that can be lethal if untreated, and hyperandrogenia." []	6551878	\N	\N	EFO	9	EFO	experimental factor	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Orphanet:90795	\N	\N	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	78395	\N	\N	EFO	0	EFO	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:418	Orphanet:90795	\N	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	223181	\N	\N	EFO	1	EFO	Congenital adrenal hyperplasia	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:90776	Orphanet:90795	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	223182	\N	\N	EFO	1	EFO	46,XX disorder of sex development induced by fetal androgens excess	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:101960	Orphanet:418	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	579672	\N	\N	EFO	2	EFO	Genetic chronic primary adrenal insufficiency	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:181412	Orphanet:418	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	579673	\N	\N	EFO	2	EFO	Adrenogenital syndrome	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:325665	Orphanet:90776	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	579674	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:325697	Orphanet:90776	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	579675	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	1163399	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	1163400	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	1163401	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	1163402	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	2047109	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	2047110	\N	\N	EFO	4	EFO	genetic disorder	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	2047111	\N	\N	EFO	4	EFO	reproductive system disease	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	2047112	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	2047113	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	2047114	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	3197125	\N	\N	EFO	5	EFO	genetic disorder	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	3197126	\N	\N	EFO	5	EFO	endocrine system disease	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	4402613	\N	\N	EFO	6	EFO	disease	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	3197128	\N	\N	EFO	5	EFO	disease	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	3197129	\N	\N	EFO	5	EFO	genetic disorder	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	3197130	\N	\N	EFO	5	EFO	genetic disorder	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	4402614	\N	\N	EFO	6	EFO	disease	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	5183555	\N	\N	EFO	7	EFO	disposition	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	5998872	\N	\N	EFO	8	EFO	material property	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90795	"Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." []	6551879	\N	\N	EFO	9	EFO	experimental factor	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Orphanet:90796	\N	\N	"" []	Orphanet:90796	"" []	78396	\N	\N	EFO	0	EFO	46,XY disorder of sex development due to isolated 17,20 lyase deficiency	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:90787	Orphanet:90796	\N	"" []	Orphanet:90796	"" []	223183	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to testicular steroidogenesis defect	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:325632	Orphanet:90787	\N	"" []	Orphanet:90796	"" []	579676	\N	\N	EFO	2	EFO	46,XY disorder of sex development of gynecological interest	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:90783	Orphanet:90787	\N	"" []	Orphanet:90796	"" []	579677	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to testosterone synthesis defect	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:90796	"" []	1163403	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:90796	"" []	1163404	\N	\N	EFO	3	EFO	46,XY disorder of sex development due to impaired androgen production	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:90796	"" []	2047115	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:90796	"" []	2047116	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development of endocrine origin	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90796	"" []	3197131	\N	\N	EFO	5	EFO	genetic disorder	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:90796	"" []	3197132	\N	\N	EFO	5	EFO	reproductive system disease	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:90796	"" []	3197133	\N	\N	EFO	5	EFO	Genetic 46,XY disorder of sex development	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90796	"" []	6634255	\N	\N	EFO	9	EFO	disease	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90796	"" []	4402617	\N	\N	EFO	6	EFO	disease	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:90796	"" []	4402618	\N	\N	EFO	6	EFO	Genetic disorder of sex development	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90796	"" []	6808212	\N	\N	EFO	10	EFO	disposition	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:90796	"" []	5418578	\N	\N	EFO	7	EFO	Rare genetic urogenital disease	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:90796	"" []	5418579	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:90796	"" []	5418580	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90796	"" []	7048834	\N	\N	EFO	11	EFO	material property	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90796	"" []	6153097	\N	\N	EFO	8	EFO	genetic disorder	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90796	"" []	6153098	\N	\N	EFO	8	EFO	genetic disorder	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90796	"" []	6153099	\N	\N	EFO	8	EFO	endocrine system disease	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90796	"" []	6153100	\N	\N	EFO	8	EFO	genetic disorder	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90796	"" []	7190259	\N	\N	EFO	12	EFO	experimental factor	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90796	"" []	6634256	\N	\N	EFO	9	EFO	disease	46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Orphanet:90797	\N	\N	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	78397	\N	\N	EFO	0	EFO	Partial androgen insensitivity syndrome	Partial androgen insensitivity syndrome
Orphanet:754	Orphanet:90797	\N	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	223184	\N	\N	EFO	1	EFO	Androgen insensitivity syndrome	Partial androgen insensitivity syndrome
Orphanet:325632	Orphanet:754	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	579678	\N	\N	EFO	2	EFO	46,XY disorder of sex development of gynecological interest	Partial androgen insensitivity syndrome
Orphanet:325713	Orphanet:754	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	579679	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Partial androgen insensitivity syndrome
Orphanet:399685	Orphanet:754	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	579680	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Partial androgen insensitivity syndrome
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	1163405	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	Partial androgen insensitivity syndrome
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	1163406	\N	\N	EFO	3	EFO	Genetic 46,XY disorder of sex development	Partial androgen insensitivity syndrome
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	1163407	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Partial androgen insensitivity syndrome
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	2047117	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Partial androgen insensitivity syndrome
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	2047118	\N	\N	EFO	4	EFO	Genetic disorder of sex development	Partial androgen insensitivity syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	2047119	\N	\N	EFO	4	EFO	Rare genetic male infertility	Partial androgen insensitivity syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	3197134	\N	\N	EFO	5	EFO	genetic disorder	Partial androgen insensitivity syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	3197135	\N	\N	EFO	5	EFO	reproductive system disease	Partial androgen insensitivity syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	3197136	\N	\N	EFO	5	EFO	Rare genetic urogenital disease	Partial androgen insensitivity syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	3197137	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Partial androgen insensitivity syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	3197138	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Partial androgen insensitivity syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	3197139	\N	\N	EFO	5	EFO	Genetic infertility	Partial androgen insensitivity syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	5418582	\N	\N	EFO	7	EFO	disease	Partial androgen insensitivity syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	5418584	\N	\N	EFO	7	EFO	disease	Partial androgen insensitivity syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	4402621	\N	\N	EFO	6	EFO	genetic disorder	Partial androgen insensitivity syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	4402622	\N	\N	EFO	6	EFO	genetic disorder	Partial androgen insensitivity syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	4402623	\N	\N	EFO	6	EFO	endocrine system disease	Partial androgen insensitivity syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	4402624	\N	\N	EFO	6	EFO	genetic disorder	Partial androgen insensitivity syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	4402625	\N	\N	EFO	6	EFO	genetic disorder	Partial androgen insensitivity syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	4402626	\N	\N	EFO	6	EFO	reproductive system disease	Partial androgen insensitivity syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	5998873	\N	\N	EFO	8	EFO	disposition	Partial androgen insensitivity syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	5418583	\N	\N	EFO	7	EFO	disease	Partial androgen insensitivity syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	6551880	\N	\N	EFO	9	EFO	material property	Partial androgen insensitivity syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90797	"Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." []	6889558	\N	\N	EFO	10	EFO	experimental factor	Partial androgen insensitivity syndrome
Orphanet:908	\N	\N	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	78398	\N	\N	EFO	0	EFO	Fragile X syndrome	Fragile X syndrome
Orphanet:102283	Orphanet:908	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	223185	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Fragile X syndrome
Orphanet:138063	Orphanet:908	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	223186	\N	\N	EFO	1	EFO	Syndrome associated with Pierre Robin syndrome	Fragile X syndrome
Orphanet:180772	Orphanet:908	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	223187	\N	\N	EFO	1	EFO	Rare disease with autism	Fragile X syndrome
Orphanet:240371	Orphanet:908	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	223188	\N	\N	EFO	1	EFO	Syndromic obesity	Fragile X syndrome
Orphanet:306765	Orphanet:908	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	223189	\N	\N	EFO	1	EFO	Motor stereotypies	Fragile X syndrome
Orphanet:98464	Orphanet:908	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	223190	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Fragile X syndrome
Orphanet:98683	Orphanet:908	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	223191	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Fragile X syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	579681	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Fragile X syndrome
Orphanet:363294	Orphanet:138063	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	579682	\N	\N	EFO	2	EFO	Genetic syndromic Pierre Robin syndrome	Fragile X syndrome
Orphanet:168778	Orphanet:180772	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	579683	\N	\N	EFO	2	EFO	Rare pervasive developmental disorder	Fragile X syndrome
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	579684	\N	\N	EFO	2	EFO	Genetic obesity	Fragile X syndrome
Orphanet:183521	Orphanet:306765	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	579685	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Fragile X syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	579686	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Fragile X syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	579687	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Fragile X syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	1163408	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fragile X syndrome
Orphanet:156237	Orphanet:363294	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	1163409	\N	\N	EFO	3	EFO	Syndrome or malformation associated with head and neck malformations	Fragile X syndrome
Orphanet:71859	Orphanet:168778	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	1163410	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Fragile X syndrome
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	1163411	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Fragile X syndrome
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	1163412	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Fragile X syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	1163413	\N	\N	EFO	3	EFO	movement disorder	Fragile X syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	1163414	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Fragile X syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	1163415	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Fragile X syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	1163416	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Fragile X syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	5418586	\N	\N	EFO	7	EFO	genetic disorder	Fragile X syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	2047121	\N	\N	EFO	4	EFO	Rare otorhinolaryngological malformation	Fragile X syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	3197145	\N	\N	EFO	5	EFO	genetic disorder	Fragile X syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	2047123	\N	\N	EFO	4	EFO	genetic disorder	Fragile X syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	2047124	\N	\N	EFO	4	EFO	endocrine system disease	Fragile X syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	2047125	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Fragile X syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	2047126	\N	\N	EFO	4	EFO	nervous system disease	Fragile X syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	2047127	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Fragile X syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	2047128	\N	\N	EFO	4	EFO	Rare genetic eye disease	Fragile X syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	5817901	\N	\N	EFO	8	EFO	disease	Fragile X syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	3197141	\N	\N	EFO	5	EFO	Genetic head and neck malformation	Fragile X syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	3197142	\N	\N	EFO	5	EFO	disease	Fragile X syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	3197144	\N	\N	EFO	5	EFO	disease	Fragile X syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	3197146	\N	\N	EFO	5	EFO	genetic disorder	Fragile X syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	3197147	\N	\N	EFO	5	EFO	eye disease	Fragile X syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	6410413	\N	\N	EFO	9	EFO	disposition	Fragile X syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	4402628	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Fragile X syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	4402629	\N	\N	EFO	6	EFO	disease	Fragile X syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	6808213	\N	\N	EFO	10	EFO	material property	Fragile X syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:908	"Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features." []	7048835	\N	\N	EFO	11	EFO	experimental factor	Fragile X syndrome
Orphanet:909	\N	\N	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	78399	\N	\N	EFO	0	EFO	Cerebrotendinous xanthomatosis	Cerebrotendinous xanthomatosis
Orphanet:163631	Orphanet:909	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	223192	\N	\N	EFO	1	EFO	Bile acid synthesis defect with cholestasis and malabsorption	Cerebrotendinous xanthomatosis
Orphanet:181437	Orphanet:909	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	223193	\N	\N	EFO	1	EFO	Rare syndromic dyslipidemia	Cerebrotendinous xanthomatosis
Orphanet:183484	Orphanet:909	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	223194	\N	\N	EFO	1	EFO	Genetic subcutaneous tissue disorder	Cerebrotendinous xanthomatosis
Orphanet:207018	Orphanet:909	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	223195	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Cerebrotendinous xanthomatosis
Orphanet:68356	Orphanet:909	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	223196	\N	\N	EFO	1	EFO	Leukodystrophy	Cerebrotendinous xanthomatosis
Orphanet:68385	Orphanet:909	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	223197	\N	\N	EFO	1	EFO	Neurometabolic disease	Cerebrotendinous xanthomatosis
Orphanet:98096	Orphanet:909	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	223198	\N	\N	EFO	1	EFO	Autosomal recessive metabolic cerebellar ataxia	Cerebrotendinous xanthomatosis
Orphanet:98712	Orphanet:909	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	223199	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Cerebrotendinous xanthomatosis
Orphanet:284385	Orphanet:163631	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	579688	\N	\N	EFO	2	EFO	Familial intrahepatic cholestasis	Cerebrotendinous xanthomatosis
Orphanet:79168	Orphanet:163631	\N	"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	579689	\N	\N	EFO	2	EFO	Disorder of bile acid synthesis	Cerebrotendinous xanthomatosis
Orphanet:101953	Orphanet:181437	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	579690	\N	\N	EFO	2	EFO	Rare dyslipidemia	Cerebrotendinous xanthomatosis
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	579691	\N	\N	EFO	2	EFO	Rare genetic skin disease	Cerebrotendinous xanthomatosis
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	579692	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Cerebrotendinous xanthomatosis
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	579693	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Cerebrotendinous xanthomatosis
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	579694	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Cerebrotendinous xanthomatosis
Orphanet:1172	Orphanet:98096	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	579695	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Cerebrotendinous xanthomatosis
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	579696	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Cerebrotendinous xanthomatosis
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	1163417	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Cerebrotendinous xanthomatosis
Orphanet:79226	Orphanet:79168	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	1163418	\N	\N	EFO	3	EFO	Sterol metabolism disorder	Cerebrotendinous xanthomatosis
Orphanet:156638	Orphanet:101953	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	1163419	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Cerebrotendinous xanthomatosis
Orphanet:309005	Orphanet:101953	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	1163420	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Cerebrotendinous xanthomatosis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	1163421	\N	\N	EFO	3	EFO	genetic disorder	Cerebrotendinous xanthomatosis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	1163422	\N	\N	EFO	3	EFO	skin disease	Cerebrotendinous xanthomatosis
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	1163423	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Cerebrotendinous xanthomatosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	6153104	\N	\N	EFO	8	EFO	genetic disorder	Cerebrotendinous xanthomatosis
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	1163425	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Cerebrotendinous xanthomatosis
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	1163426	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Cerebrotendinous xanthomatosis
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	1163427	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Cerebrotendinous xanthomatosis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	1163428	\N	\N	EFO	3	EFO	Rare genetic eye disease	Cerebrotendinous xanthomatosis
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	2047129	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Cerebrotendinous xanthomatosis
Orphanet:309005	Orphanet:79226	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	2047130	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Cerebrotendinous xanthomatosis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	2047131	\N	\N	EFO	4	EFO	genetic disorder	Cerebrotendinous xanthomatosis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	2047132	\N	\N	EFO	4	EFO	endocrine system disease	Cerebrotendinous xanthomatosis
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	3197150	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Cerebrotendinous xanthomatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	6370840	\N	\N	EFO	9	EFO	disease	Cerebrotendinous xanthomatosis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	2047135	\N	\N	EFO	4	EFO	disease	Cerebrotendinous xanthomatosis
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	2047136	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cerebrotendinous xanthomatosis
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	2047137	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cerebrotendinous xanthomatosis
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	2047138	\N	\N	EFO	4	EFO	Ataxia with dementia	Cerebrotendinous xanthomatosis
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	2047139	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Cerebrotendinous xanthomatosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	5418593	\N	\N	EFO	7	EFO	genetic disorder	Cerebrotendinous xanthomatosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	5418594	\N	\N	EFO	7	EFO	eye disease	Cerebrotendinous xanthomatosis
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	3197148	\N	\N	EFO	5	EFO	digestive system disease	Cerebrotendinous xanthomatosis
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	3197149	\N	\N	EFO	5	EFO	genetic disorder	Cerebrotendinous xanthomatosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	3197152	\N	\N	EFO	5	EFO	disease	Cerebrotendinous xanthomatosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	4134476	\N	\N	EFO	6	EFO	genetic disorder	Cerebrotendinous xanthomatosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	4134477	\N	\N	EFO	6	EFO	metabolic disease	Cerebrotendinous xanthomatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	6762406	\N	\N	EFO	10	EFO	disposition	Cerebrotendinous xanthomatosis
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	3197157	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Cerebrotendinous xanthomatosis
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	3197158	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Cerebrotendinous xanthomatosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	5817904	\N	\N	EFO	8	EFO	disease	Cerebrotendinous xanthomatosis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	4402630	\N	\N	EFO	6	EFO	disease	Cerebrotendinous xanthomatosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	5183558	\N	\N	EFO	7	EFO	disease	Cerebrotendinous xanthomatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	7015719	\N	\N	EFO	11	EFO	material property	Cerebrotendinous xanthomatosis
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	4402633	\N	\N	EFO	6	EFO	Genetic dementia	Cerebrotendinous xanthomatosis
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	4402634	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Cerebrotendinous xanthomatosis
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	4402635	\N	\N	EFO	6	EFO	Rare genetic eye disease	Cerebrotendinous xanthomatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	7173664	\N	\N	EFO	12	EFO	experimental factor	Cerebrotendinous xanthomatosis
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	5418588	\N	\N	EFO	7	EFO	brain disease	Cerebrotendinous xanthomatosis
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	5418589	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Cerebrotendinous xanthomatosis
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	5418590	\N	\N	EFO	7	EFO	neurodegenerative disease	Cerebrotendinous xanthomatosis
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	5418591	\N	\N	EFO	7	EFO	brain disease	Cerebrotendinous xanthomatosis
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	5418592	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Cerebrotendinous xanthomatosis
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	6153103	\N	\N	EFO	8	EFO	nervous system disease	Cerebrotendinous xanthomatosis
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	6153105	\N	\N	EFO	8	EFO	nervous system disease	Cerebrotendinous xanthomatosis
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:909	"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." []	6634258	\N	\N	EFO	9	EFO	disease	Cerebrotendinous xanthomatosis
Orphanet:90970	\N	\N	"" []	Orphanet:90970	"" []	78400	\N	\N	EFO	0	EFO	Primary lipodystrophy	Primary lipodystrophy
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:90970	"" []	223200	\N	\N	EFO	1	EFO	Genetic subcutaneous tissue disorder	Primary lipodystrophy
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:90970	"" []	579697	\N	\N	EFO	2	EFO	Rare genetic skin disease	Primary lipodystrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:90970	"" []	1163429	\N	\N	EFO	3	EFO	genetic disorder	Primary lipodystrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:90970	"" []	1163430	\N	\N	EFO	3	EFO	skin disease	Primary lipodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90970	"" []	2047142	\N	\N	EFO	4	EFO	disease	Primary lipodystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:90970	"" []	2047143	\N	\N	EFO	4	EFO	disease	Primary lipodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:90970	"" []	3197160	\N	\N	EFO	5	EFO	disposition	Primary lipodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:90970	"" []	4402636	\N	\N	EFO	6	EFO	material property	Primary lipodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:90970	"" []	5418595	\N	\N	EFO	7	EFO	experimental factor	Primary lipodystrophy
Orphanet:91	\N	\N	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	78401	\N	\N	EFO	0	EFO	Aromatase deficiency	Aromatase deficiency
Orphanet:325061	Orphanet:91	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	223201	\N	\N	EFO	1	EFO	46,XX disorder of sex development induced by fetoplacental androgens excess	Aromatase deficiency
Orphanet:399983	Orphanet:91	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	223202	\N	\N	EFO	1	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Aromatase deficiency
Orphanet:400011	Orphanet:91	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	223203	\N	\N	EFO	1	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Aromatase deficiency
Orphanet:95710	Orphanet:91	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	223204	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	Aromatase deficiency
Orphanet:325665	Orphanet:325061	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	579698	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Aromatase deficiency
Orphanet:325697	Orphanet:325061	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	579699	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	Aromatase deficiency
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	579700	\N	\N	EFO	2	EFO	Rare genetic male infertility	Aromatase deficiency
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	579701	\N	\N	EFO	2	EFO	Rare genetic female infertility	Aromatase deficiency
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	579702	\N	\N	EFO	2	EFO	ovarian disease	Aromatase deficiency
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	579703	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Aromatase deficiency
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	579704	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Aromatase deficiency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	1163431	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Aromatase deficiency
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	1163432	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Aromatase deficiency
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	1163433	\N	\N	EFO	3	EFO	Genetic infertility	Aromatase deficiency
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	1163434	\N	\N	EFO	3	EFO	Genetic infertility	Aromatase deficiency
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	1163435	\N	\N	EFO	3	EFO	reproductive system disease	Aromatase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	3197164	\N	\N	EFO	5	EFO	genetic disorder	Aromatase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	3197165	\N	\N	EFO	5	EFO	endocrine system disease	Aromatase deficiency
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	1163438	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	Aromatase deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	2047144	\N	\N	EFO	4	EFO	genetic disorder	Aromatase deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	2047145	\N	\N	EFO	4	EFO	reproductive system disease	Aromatase deficiency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	2047146	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Aromatase deficiency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	2047147	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Aromatase deficiency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	2047148	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Aromatase deficiency
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	2047149	\N	\N	EFO	4	EFO	genetic disorder	Aromatase deficiency
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	2047150	\N	\N	EFO	4	EFO	reproductive system disease	Aromatase deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	3197162	\N	\N	EFO	5	EFO	disease	Aromatase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	4067015	\N	\N	EFO	6	EFO	disease	Aromatase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	4067016	\N	\N	EFO	6	EFO	disease	Aromatase deficiency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	3197163	\N	\N	EFO	5	EFO	genetic disorder	Aromatase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	3197166	\N	\N	EFO	5	EFO	genetic disorder	Aromatase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	5060325	\N	\N	EFO	7	EFO	disposition	Aromatase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	5877842	\N	\N	EFO	8	EFO	material property	Aromatase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91	"Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." []	6471061	\N	\N	EFO	9	EFO	experimental factor	Aromatase deficiency
Orphanet:910	\N	\N	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	78402	\N	\N	EFO	0	EFO	Xeroderma pigmentosum	Xeroderma pigmentosum
Orphanet:139027	Orphanet:910	\N	"" []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	223205	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Xeroderma pigmentosum
Orphanet:183422	Orphanet:910	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	223206	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Xeroderma pigmentosum
Orphanet:183490	Orphanet:910	\N	"" []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	223207	\N	\N	EFO	1	EFO	Genetic photodermatosis	Xeroderma pigmentosum
Orphanet:363245	Orphanet:910	\N	"" []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	223208	\N	\N	EFO	1	EFO	Genetic progeroid syndrome	Xeroderma pigmentosum
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	579705	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	579706	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Xeroderma pigmentosum
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	579707	\N	\N	EFO	2	EFO	Rare genetic skin disease	Xeroderma pigmentosum
Orphanet:183530	Orphanet:363245	\N	"" []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	579708	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Xeroderma pigmentosum
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	1163439	\N	\N	EFO	3	EFO	genetic disorder	Xeroderma pigmentosum
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	1163440	\N	\N	EFO	3	EFO	genetic disorder	Xeroderma pigmentosum
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	1163441	\N	\N	EFO	3	EFO	genetic disorder	Xeroderma pigmentosum
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	1163442	\N	\N	EFO	3	EFO	skin disease	Xeroderma pigmentosum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	2047154	\N	\N	EFO	4	EFO	disease	Xeroderma pigmentosum
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	2047155	\N	\N	EFO	4	EFO	disease	Xeroderma pigmentosum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	3197168	\N	\N	EFO	5	EFO	disposition	Xeroderma pigmentosum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	4402638	\N	\N	EFO	6	EFO	material property	Xeroderma pigmentosum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:910	"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." []	5418597	\N	\N	EFO	7	EFO	experimental factor	Xeroderma pigmentosum
Orphanet:91024	\N	\N	"" []	Orphanet:91024	"" []	78403	\N	\N	EFO	0	EFO	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
Orphanet:140450	Orphanet:91024	\N	"" []	Orphanet:91024	"" []	223209	\N	\N	EFO	1	EFO	Hereditary motor and sensory neuropathy	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
Orphanet:166	Orphanet:91024	\N	"" []	Orphanet:91024	"" []	223210	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:91024	"" []	579709	\N	\N	EFO	2	EFO	motor neuron disease	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:91024	"" []	579710	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:91024	"" []	579711	\N	\N	EFO	2	EFO	Genetic peripheral neuropathy	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:91024	"" []	1163443	\N	\N	EFO	3	EFO	neurodegenerative disease	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:91024	"" []	1163444	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:91024	"" []	2047156	\N	\N	EFO	4	EFO	nervous system disease	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91024	"" []	2047157	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91024	"" []	3197169	\N	\N	EFO	5	EFO	disease	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91024	"" []	3197170	\N	\N	EFO	5	EFO	disease	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91024	"" []	4402639	\N	\N	EFO	6	EFO	disposition	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91024	"" []	5418598	\N	\N	EFO	7	EFO	material property	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91024	"" []	6153106	\N	\N	EFO	8	EFO	experimental factor	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
Orphanet:91088	\N	\N	"" []	Orphanet:91088	"" []	78404	\N	\N	EFO	0	EFO	Other metabolic disease	Other metabolic disease
Orphanet:68367	Orphanet:91088	\N	"" []	Orphanet:91088	"" []	223211	\N	\N	EFO	1	EFO	Inborn errors of metabolism	Other metabolic disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91088	"" []	579712	\N	\N	EFO	2	EFO	genetic disorder	Other metabolic disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:91088	"" []	579713	\N	\N	EFO	2	EFO	metabolic disease	Other metabolic disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91088	"" []	1163445	\N	\N	EFO	3	EFO	disease	Other metabolic disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91088	"" []	1163446	\N	\N	EFO	3	EFO	disease	Other metabolic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91088	"" []	2047158	\N	\N	EFO	4	EFO	disposition	Other metabolic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91088	"" []	3197171	\N	\N	EFO	5	EFO	material property	Other metabolic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91088	"" []	4402640	\N	\N	EFO	6	EFO	experimental factor	Other metabolic disease
Orphanet:911	\N	\N	"" []	Orphanet:911	"" []	78405	\N	\N	EFO	0	EFO	Combined immunodeficiency due to ZAP70 deficiency	Combined immunodeficiency due to ZAP70 deficiency
Orphanet:101972	Orphanet:911	\N	"" []	Orphanet:911	"" []	223212	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	Combined immunodeficiency due to ZAP70 deficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:911	"" []	579714	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Combined immunodeficiency due to ZAP70 deficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:911	"" []	1163447	\N	\N	EFO	3	EFO	Primary immunodeficiency	Combined immunodeficiency due to ZAP70 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:911	"" []	2047159	\N	\N	EFO	4	EFO	Rare genetic immune disease	Combined immunodeficiency due to ZAP70 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:911	"" []	3197172	\N	\N	EFO	5	EFO	genetic disorder	Combined immunodeficiency due to ZAP70 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:911	"" []	3197173	\N	\N	EFO	5	EFO	immune system disease	Combined immunodeficiency due to ZAP70 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:911	"" []	4402641	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency due to ZAP70 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:911	"" []	4402642	\N	\N	EFO	6	EFO	disease	Combined immunodeficiency due to ZAP70 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:911	"" []	5418599	\N	\N	EFO	7	EFO	disposition	Combined immunodeficiency due to ZAP70 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:911	"" []	6153107	\N	\N	EFO	8	EFO	material property	Combined immunodeficiency due to ZAP70 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:911	"" []	6634259	\N	\N	EFO	9	EFO	experimental factor	Combined immunodeficiency due to ZAP70 deficiency
Orphanet:91130	\N	\N	"" []	Orphanet:91130	"" []	78406	\N	\N	EFO	0	EFO	Cardiomyopathy - hypotonia - lactic acidosis	Cardiomyopathy - hypotonia - lactic acidosis
Orphanet:217595	Orphanet:91130	\N	"" []	Orphanet:91130	"" []	223213	\N	\N	EFO	1	EFO	Syndrome associated with hypertrophic cardiomyopathy	Cardiomyopathy - hypotonia - lactic acidosis
Orphanet:254830	Orphanet:91130	\N	"" []	Orphanet:91130	"" []	223214	\N	\N	EFO	1	EFO	Mitochondrial substrate carrier disorder	Cardiomyopathy - hypotonia - lactic acidosis
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:91130	"" []	579715	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Cardiomyopathy - hypotonia - lactic acidosis
Orphanet:254827	Orphanet:254830	\N	"" []	Orphanet:91130	"" []	579716	\N	\N	EFO	2	EFO	Mitochondrial membrane transport disorder	Cardiomyopathy - hypotonia - lactic acidosis
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:91130	"" []	1163448	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Cardiomyopathy - hypotonia - lactic acidosis
Orphanet:68380	Orphanet:254827	\N	"" []	Orphanet:91130	"" []	1163449	\N	\N	EFO	3	EFO	Mitochondrial disease	Cardiomyopathy - hypotonia - lactic acidosis
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91130	"" []	2047160	\N	\N	EFO	4	EFO	genetic disorder	Cardiomyopathy - hypotonia - lactic acidosis
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:91130	"" []	2047161	\N	\N	EFO	4	EFO	heart disease	Cardiomyopathy - hypotonia - lactic acidosis
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:91130	"" []	2047162	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Cardiomyopathy - hypotonia - lactic acidosis
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:91130	"" []	2047163	\N	\N	EFO	4	EFO	Disorder of energy metabolism	Cardiomyopathy - hypotonia - lactic acidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91130	"" []	5418602	\N	\N	EFO	7	EFO	disease	Cardiomyopathy - hypotonia - lactic acidosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:91130	"" []	3197175	\N	\N	EFO	5	EFO	cardiovascular disease	Cardiomyopathy - hypotonia - lactic acidosis
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:91130	"" []	3197176	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cardiomyopathy - hypotonia - lactic acidosis
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:91130	"" []	3197177	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Cardiomyopathy - hypotonia - lactic acidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91130	"" []	5877843	\N	\N	EFO	8	EFO	disposition	Cardiomyopathy - hypotonia - lactic acidosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91130	"" []	4402644	\N	\N	EFO	6	EFO	disease	Cardiomyopathy - hypotonia - lactic acidosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91130	"" []	4402645	\N	\N	EFO	6	EFO	genetic disorder	Cardiomyopathy - hypotonia - lactic acidosis
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91130	"" []	4402646	\N	\N	EFO	6	EFO	genetic disorder	Cardiomyopathy - hypotonia - lactic acidosis
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:91130	"" []	4402647	\N	\N	EFO	6	EFO	metabolic disease	Cardiomyopathy - hypotonia - lactic acidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91130	"" []	6471062	\N	\N	EFO	9	EFO	material property	Cardiomyopathy - hypotonia - lactic acidosis
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91130	"" []	5418603	\N	\N	EFO	7	EFO	disease	Cardiomyopathy - hypotonia - lactic acidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91130	"" []	6848869	\N	\N	EFO	10	EFO	experimental factor	Cardiomyopathy - hypotonia - lactic acidosis
Orphanet:91131	\N	\N	"" []	Orphanet:91131	"" []	78407	\N	\N	EFO	0	EFO	DK1-CDG	DK1-CDG
Orphanet:281244	Orphanet:91131	\N	"" []	Orphanet:91131	"" []	223215	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	DK1-CDG
Orphanet:309526	Orphanet:91131	\N	"" []	Orphanet:91131	"" []	223216	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	DK1-CDG
Orphanet:371176	Orphanet:91131	\N	"" []	Orphanet:91131	"" []	223217	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with dilated cardiomyopathy	DK1-CDG
Orphanet:371200	Orphanet:91131	\N	"" []	Orphanet:91131	"" []	223218	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	DK1-CDG
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:91131	"" []	579717	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	DK1-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:91131	"" []	579718	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	DK1-CDG
Orphanet:217607	Orphanet:371176	\N	"" []	Orphanet:91131	"" []	579719	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	DK1-CDG
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:91131	"" []	579720	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	DK1-CDG
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:91131	"" []	1163450	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	DK1-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:91131	"" []	1163451	\N	\N	EFO	3	EFO	Inborn errors of metabolism	DK1-CDG
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:91131	"" []	1163452	\N	\N	EFO	3	EFO	cardiomyopathy	DK1-CDG
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:91131	"" []	1163453	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	DK1-CDG
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:91131	"" []	1163454	\N	\N	EFO	3	EFO	Rare genetic skin disease	DK1-CDG
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:91131	"" []	2047164	\N	\N	EFO	4	EFO	Inherited ichthyosis	DK1-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91131	"" []	2047165	\N	\N	EFO	4	EFO	genetic disorder	DK1-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:91131	"" []	2047166	\N	\N	EFO	4	EFO	metabolic disease	DK1-CDG
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:91131	"" []	2047167	\N	\N	EFO	4	EFO	heart disease	DK1-CDG
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91131	"" []	2047168	\N	\N	EFO	4	EFO	genetic disorder	DK1-CDG
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:91131	"" []	2047169	\N	\N	EFO	4	EFO	heart disease	DK1-CDG
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91131	"" []	5418604	\N	\N	EFO	7	EFO	genetic disorder	DK1-CDG
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:91131	"" []	5418605	\N	\N	EFO	7	EFO	skin disease	DK1-CDG
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:91131	"" []	3197178	\N	\N	EFO	5	EFO	Genetic epidermal disorder	DK1-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91131	"" []	5817905	\N	\N	EFO	8	EFO	disease	DK1-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91131	"" []	3197180	\N	\N	EFO	5	EFO	disease	DK1-CDG
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:91131	"" []	3197181	\N	\N	EFO	5	EFO	cardiovascular disease	DK1-CDG
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91131	"" []	5817906	\N	\N	EFO	8	EFO	disease	DK1-CDG
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:91131	"" []	4402648	\N	\N	EFO	6	EFO	Rare genetic skin disease	DK1-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91131	"" []	6410415	\N	\N	EFO	9	EFO	disposition	DK1-CDG
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91131	"" []	4402650	\N	\N	EFO	6	EFO	disease	DK1-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91131	"" []	6808215	\N	\N	EFO	10	EFO	material property	DK1-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91131	"" []	7048836	\N	\N	EFO	11	EFO	experimental factor	DK1-CDG
Orphanet:91132	\N	\N	"" []	Orphanet:91132	"" []	78408	\N	\N	EFO	0	EFO	Ichthyosis-hypotrichosis syndrome	Ichthyosis-hypotrichosis syndrome
Orphanet:281222	Orphanet:91132	\N	"" []	Orphanet:91132	"" []	223219	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with prominent hair abnormalities	Ichthyosis-hypotrichosis syndrome
Orphanet:79364	Orphanet:91132	\N	"" []	Orphanet:91132	"" []	223220	\N	\N	EFO	1	EFO	Alopecia	Ichthyosis-hypotrichosis syndrome
Orphanet:281217	Orphanet:281222	\N	"" []	Orphanet:91132	"" []	579721	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Ichthyosis-hypotrichosis syndrome
Orphanet:183450	Orphanet:79364	\N	"" []	Orphanet:91132	"" []	579722	\N	\N	EFO	2	EFO	Genetic hair anomaly	Ichthyosis-hypotrichosis syndrome
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:91132	"" []	1163455	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Ichthyosis-hypotrichosis syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:91132	"" []	1163456	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Ichthyosis-hypotrichosis syndrome
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:91132	"" []	2047172	\N	\N	EFO	4	EFO	Inherited ichthyosis	Ichthyosis-hypotrichosis syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:91132	"" []	2047173	\N	\N	EFO	4	EFO	Rare genetic skin disease	Ichthyosis-hypotrichosis syndrome
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:91132	"" []	3197183	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Ichthyosis-hypotrichosis syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91132	"" []	5418608	\N	\N	EFO	7	EFO	genetic disorder	Ichthyosis-hypotrichosis syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:91132	"" []	5418609	\N	\N	EFO	7	EFO	skin disease	Ichthyosis-hypotrichosis syndrome
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:91132	"" []	4402651	\N	\N	EFO	6	EFO	Rare genetic skin disease	Ichthyosis-hypotrichosis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91132	"" []	5877844	\N	\N	EFO	8	EFO	disease	Ichthyosis-hypotrichosis syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91132	"" []	5877845	\N	\N	EFO	8	EFO	disease	Ichthyosis-hypotrichosis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91132	"" []	6471063	\N	\N	EFO	9	EFO	disposition	Ichthyosis-hypotrichosis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91132	"" []	6848870	\N	\N	EFO	10	EFO	material property	Ichthyosis-hypotrichosis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91132	"" []	7068545	\N	\N	EFO	11	EFO	experimental factor	Ichthyosis-hypotrichosis syndrome
Orphanet:91133	\N	\N	"" []	Orphanet:91133	"" []	78409	\N	\N	EFO	0	EFO	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
Orphanet:102283	Orphanet:91133	\N	"" []	Orphanet:91133	"" []	223221	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
Orphanet:183763	Orphanet:91133	\N	"" []	Orphanet:91133	"" []	223222	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:91133	"" []	579723	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:91133	"" []	579724	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:91133	"" []	1163457	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:91133	"" []	1163458	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91133	"" []	2047174	\N	\N	EFO	4	EFO	genetic disorder	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91133	"" []	2047175	\N	\N	EFO	4	EFO	genetic disorder	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91133	"" []	3197186	\N	\N	EFO	5	EFO	disease	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91133	"" []	4402654	\N	\N	EFO	6	EFO	disposition	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91133	"" []	5418611	\N	\N	EFO	7	EFO	material property	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91133	"" []	6153111	\N	\N	EFO	8	EFO	experimental factor	Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
Orphanet:91135	\N	\N	"" []	Orphanet:91135	"" []	78410	\N	\N	EFO	0	EFO	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Orphanet:228215	Orphanet:91135	\N	"" []	Orphanet:91135	"" []	223223	\N	\N	EFO	1	EFO	Genetic dermis elastic tissue disorder	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:91135	"" []	579725	\N	\N	EFO	2	EFO	Genetic dermis disorder	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:91135	"" []	1163459	\N	\N	EFO	3	EFO	Rare genetic skin disease	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91135	"" []	2047176	\N	\N	EFO	4	EFO	genetic disorder	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:91135	"" []	2047177	\N	\N	EFO	4	EFO	skin disease	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91135	"" []	3197187	\N	\N	EFO	5	EFO	disease	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91135	"" []	3197188	\N	\N	EFO	5	EFO	disease	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91135	"" []	4402655	\N	\N	EFO	6	EFO	disposition	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91135	"" []	5418612	\N	\N	EFO	7	EFO	material property	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91135	"" []	6153112	\N	\N	EFO	8	EFO	experimental factor	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Orphanet:912	\N	\N	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	78411	\N	\N	EFO	0	EFO	Zellweger syndrome	Zellweger syndrome
Orphanet:139009	Orphanet:912	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	223224	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Zellweger syndrome
Orphanet:79189	Orphanet:912	\N	"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	223225	\N	\N	EFO	1	EFO	Peroxisome biogenesis disorder-Zellweger syndrome spectrum	Zellweger syndrome
Orphanet:93593	Orphanet:912	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	223226	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Zellweger syndrome
Orphanet:98650	Orphanet:912	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	223227	\N	\N	EFO	1	EFO	Craniofacial anomaly with cataract	Zellweger syndrome
Orphanet:98666	Orphanet:912	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	223228	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Zellweger syndrome
Orphanet:98712	Orphanet:912	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	223229	\N	\N	EFO	1	EFO	Metabolic disease with cataract	Zellweger syndrome
Orphanet:98713	Orphanet:912	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	223230	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Zellweger syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	579726	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Zellweger syndrome
Orphanet:101940	Orphanet:79189	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	579727	\N	\N	EFO	2	EFO	Rare metabolic liver disease	Zellweger syndrome
Orphanet:207018	Orphanet:79189	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	579728	\N	\N	EFO	2	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Zellweger syndrome
Orphanet:68356	Orphanet:79189	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	579729	\N	\N	EFO	2	EFO	Leukodystrophy	Zellweger syndrome
Orphanet:68373	Orphanet:79189	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	579730	\N	\N	EFO	2	EFO	Peroxisomal disease	Zellweger syndrome
Orphanet:68385	Orphanet:79189	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	579731	\N	\N	EFO	2	EFO	Neurometabolic disease	Zellweger syndrome
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	579732	\N	\N	EFO	2	EFO	Rare genetic renal disease	Zellweger syndrome
Orphanet:98643	Orphanet:98650	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	579733	\N	\N	EFO	2	EFO	Systemic disease with cataract	Zellweger syndrome
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	579734	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Zellweger syndrome
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	579735	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Zellweger syndrome
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	579736	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Zellweger syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	1163460	\N	\N	EFO	3	EFO	genetic disorder	Zellweger syndrome
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	1163461	\N	\N	EFO	3	EFO	Rare genetic hepatic disease	Zellweger syndrome
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	1163462	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Zellweger syndrome
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	1163463	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Zellweger syndrome
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	1163464	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Zellweger syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	1163465	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Zellweger syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	1163466	\N	\N	EFO	3	EFO	genetic disorder	Zellweger syndrome
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	1163467	\N	\N	EFO	3	EFO	Syndromic cataract	Zellweger syndrome
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	1163468	\N	\N	EFO	3	EFO	Retinal dystrophy	Zellweger syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	1163469	\N	\N	EFO	3	EFO	Rare genetic eye disease	Zellweger syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	5817908	\N	\N	EFO	8	EFO	disease	Zellweger syndrome
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	2047179	\N	\N	EFO	4	EFO	digestive system disease	Zellweger syndrome
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	2047180	\N	\N	EFO	4	EFO	genetic disorder	Zellweger syndrome
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	2047181	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Zellweger syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	4402657	\N	\N	EFO	6	EFO	genetic disorder	Zellweger syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	2047183	\N	\N	EFO	4	EFO	genetic disorder	Zellweger syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	2047184	\N	\N	EFO	4	EFO	metabolic disease	Zellweger syndrome
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	2047185	\N	\N	EFO	4	EFO	Rare cataract	Zellweger syndrome
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	2047186	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Zellweger syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	5418614	\N	\N	EFO	7	EFO	genetic disorder	Zellweger syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	5418615	\N	\N	EFO	7	EFO	eye disease	Zellweger syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	6379016	\N	\N	EFO	9	EFO	disposition	Zellweger syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	3197190	\N	\N	EFO	5	EFO	disease	Zellweger syndrome
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	3197192	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Zellweger syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	3197193	\N	\N	EFO	5	EFO	disease	Zellweger syndrome
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	3197194	\N	\N	EFO	5	EFO	Genetic lens and zonula anomaly	Zellweger syndrome
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	3197195	\N	\N	EFO	5	EFO	Rare genetic eye disease	Zellweger syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	5817909	\N	\N	EFO	8	EFO	disease	Zellweger syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	6778856	\N	\N	EFO	10	EFO	material property	Zellweger syndrome
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	4402658	\N	\N	EFO	6	EFO	Rare genetic eye disease	Zellweger syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:912	"Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." []	7030042	\N	\N	EFO	11	EFO	experimental factor	Zellweger syndrome
Orphanet:91357	\N	\N	"" []	Orphanet:91357	"" []	78412	\N	\N	EFO	0	EFO	Duplication of the esophagus	Duplication of the esophagus
Orphanet:108959	Orphanet:91357	\N	"" []	Orphanet:91357	"" []	223231	\N	\N	EFO	1	EFO	Non-syndromic esophageal malformation	Duplication of the esophagus
Orphanet:88993	Orphanet:108959	\N	"" []	Orphanet:91357	"" []	579737	\N	\N	EFO	2	EFO	Esophageal malformation	Duplication of the esophagus
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:91357	"" []	1163470	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Duplication of the esophagus
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:91357	"" []	2047189	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Duplication of the esophagus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91357	"" []	3197197	\N	\N	EFO	5	EFO	genetic disorder	Duplication of the esophagus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91357	"" []	4402661	\N	\N	EFO	6	EFO	disease	Duplication of the esophagus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91357	"" []	5418616	\N	\N	EFO	7	EFO	disposition	Duplication of the esophagus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91357	"" []	6153113	\N	\N	EFO	8	EFO	material property	Duplication of the esophagus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91357	"" []	6634261	\N	\N	EFO	9	EFO	experimental factor	Duplication of the esophagus
Orphanet:91358	\N	\N	"" []	Orphanet:91358	"" []	78413	\N	\N	EFO	0	EFO	Congenital esophageal diverticulum	Congenital esophageal diverticulum
Orphanet:108959	Orphanet:91358	\N	"" []	Orphanet:91358	"" []	223232	\N	\N	EFO	1	EFO	Non-syndromic esophageal malformation	Congenital esophageal diverticulum
Orphanet:88993	Orphanet:108959	\N	"" []	Orphanet:91358	"" []	579738	\N	\N	EFO	2	EFO	Esophageal malformation	Congenital esophageal diverticulum
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:91358	"" []	1163471	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Congenital esophageal diverticulum
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:91358	"" []	2047190	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital esophageal diverticulum
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91358	"" []	3197198	\N	\N	EFO	5	EFO	genetic disorder	Congenital esophageal diverticulum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91358	"" []	4402662	\N	\N	EFO	6	EFO	disease	Congenital esophageal diverticulum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91358	"" []	5418617	\N	\N	EFO	7	EFO	disposition	Congenital esophageal diverticulum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91358	"" []	6153114	\N	\N	EFO	8	EFO	material property	Congenital esophageal diverticulum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91358	"" []	6634262	\N	\N	EFO	9	EFO	experimental factor	Congenital esophageal diverticulum
Orphanet:91378	\N	\N	"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." []	Orphanet:91378	"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." []	78414	\N	\N	EFO	0	EFO	Hereditary angioedema	Hereditary angioedema
EFO:0000508	Orphanet:91378	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91378	"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." []	223233	\N	\N	EFO	1	EFO	genetic disorder	Hereditary angioedema
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91378	"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." []	579739	\N	\N	EFO	2	EFO	disease	Hereditary angioedema
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91378	"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." []	1163472	\N	\N	EFO	3	EFO	disposition	Hereditary angioedema
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91378	"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." []	2047191	\N	\N	EFO	4	EFO	material property	Hereditary angioedema
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91378	"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." []	3197199	\N	\N	EFO	5	EFO	experimental factor	Hereditary angioedema
Orphanet:91387	\N	\N	"" []	Orphanet:91387	"" []	78415	\N	\N	EFO	0	EFO	Familial thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection
Orphanet:284993	Orphanet:91387	\N	"" []	Orphanet:91387	"" []	223234	\N	\N	EFO	1	EFO	Marfan and Marfan-related disorder	Familial thoracic aortic aneurysm and aortic dissection
Orphanet:285014	Orphanet:91387	\N	"" []	Orphanet:91387	"" []	223235	\N	\N	EFO	1	EFO	Rare disease with thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection
Orphanet:271870	Orphanet:284993	\N	"" []	Orphanet:91387	"" []	579740	\N	\N	EFO	2	EFO	Rare genetic systemic or rheumatologic disease	Familial thoracic aortic aneurysm and aortic dissection
Orphanet:233655	Orphanet:285014	\N	"" []	Orphanet:91387	"" []	579741	\N	\N	EFO	2	EFO	Rare genetic vascular disease	Familial thoracic aortic aneurysm and aortic dissection
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91387	"" []	1163473	\N	\N	EFO	3	EFO	genetic disorder	Familial thoracic aortic aneurysm and aortic dissection
EFO:0000508	Orphanet:233655	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91387	"" []	1163474	\N	\N	EFO	3	EFO	genetic disorder	Familial thoracic aortic aneurysm and aortic dissection
EFO:0004264	Orphanet:233655	\N	"Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body." []	Orphanet:91387	"" []	1163475	\N	\N	EFO	3	EFO	vascular disease	Familial thoracic aortic aneurysm and aortic dissection
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91387	"" []	2047192	\N	\N	EFO	4	EFO	disease	Familial thoracic aortic aneurysm and aortic dissection
EFO:0000319	EFO:0004264	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:91387	"" []	2047193	\N	\N	EFO	4	EFO	cardiovascular disease	Familial thoracic aortic aneurysm and aortic dissection
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91387	"" []	4402664	\N	\N	EFO	6	EFO	disposition	Familial thoracic aortic aneurysm and aortic dissection
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91387	"" []	3197201	\N	\N	EFO	5	EFO	disease	Familial thoracic aortic aneurysm and aortic dissection
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91387	"" []	5183562	\N	\N	EFO	7	EFO	material property	Familial thoracic aortic aneurysm and aortic dissection
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91387	"" []	5998880	\N	\N	EFO	8	EFO	experimental factor	Familial thoracic aortic aneurysm and aortic dissection
Orphanet:91396	\N	\N	"" []	Orphanet:91396	"" []	78416	\N	\N	EFO	0	EFO	Isolated cryptophthalmia	Isolated cryptophthalmia
Orphanet:108985	Orphanet:91396	\N	"" []	Orphanet:91396	"" []	223236	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Isolated cryptophthalmia
Orphanet:98562	Orphanet:91396	\N	"" []	Orphanet:91396	"" []	223237	\N	\N	EFO	1	EFO	Cryptophthalmia	Isolated cryptophthalmia
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:91396	"" []	579742	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Isolated cryptophthalmia
Orphanet:98561	Orphanet:98562	\N	"" []	Orphanet:91396	"" []	579743	\N	\N	EFO	2	EFO	Eyelid malformation	Isolated cryptophthalmia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:91396	"" []	1163476	\N	\N	EFO	3	EFO	Rare genetic eye disease	Isolated cryptophthalmia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:91396	"" []	1163477	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Isolated cryptophthalmia
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:91396	"" []	1163478	\N	\N	EFO	3	EFO	Rare palpebral disease	Isolated cryptophthalmia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91396	"" []	4402666	\N	\N	EFO	6	EFO	genetic disorder	Isolated cryptophthalmia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91396	"" []	4402667	\N	\N	EFO	6	EFO	eye disease	Isolated cryptophthalmia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91396	"" []	2047196	\N	\N	EFO	4	EFO	genetic disorder	Isolated cryptophthalmia
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:91396	"" []	2047197	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Isolated cryptophthalmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91396	"" []	5060328	\N	\N	EFO	7	EFO	disease	Isolated cryptophthalmia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91396	"" []	5060329	\N	\N	EFO	7	EFO	disease	Isolated cryptophthalmia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:91396	"" []	3197204	\N	\N	EFO	5	EFO	Rare genetic eye disease	Isolated cryptophthalmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91396	"" []	5877846	\N	\N	EFO	8	EFO	disposition	Isolated cryptophthalmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91396	"" []	6471064	\N	\N	EFO	9	EFO	material property	Isolated cryptophthalmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91396	"" []	6848871	\N	\N	EFO	10	EFO	experimental factor	Isolated cryptophthalmia
Orphanet:91397	\N	\N	"" []	Orphanet:91397	"" []	78417	\N	\N	EFO	0	EFO	Isolated ankyloblepharon filiforme adnatum	Isolated ankyloblepharon filiforme adnatum
Orphanet:108985	Orphanet:91397	\N	"" []	Orphanet:91397	"" []	223238	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Isolated ankyloblepharon filiforme adnatum
Orphanet:156237	Orphanet:91397	\N	"" []	Orphanet:91397	"" []	223239	\N	\N	EFO	1	EFO	Syndrome or malformation associated with head and neck malformations	Isolated ankyloblepharon filiforme adnatum
Orphanet:98564	Orphanet:91397	\N	"" []	Orphanet:91397	"" []	223240	\N	\N	EFO	1	EFO	Eyelid border anomaly	Isolated ankyloblepharon filiforme adnatum
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:91397	"" []	579744	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Isolated ankyloblepharon filiforme adnatum
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:91397	"" []	579745	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Isolated ankyloblepharon filiforme adnatum
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:91397	"" []	579746	\N	\N	EFO	2	EFO	Eyelid malformation	Isolated ankyloblepharon filiforme adnatum
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:91397	"" []	1163479	\N	\N	EFO	3	EFO	Rare genetic eye disease	Isolated ankyloblepharon filiforme adnatum
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:91397	"" []	1163480	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Isolated ankyloblepharon filiforme adnatum
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:91397	"" []	1163481	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Isolated ankyloblepharon filiforme adnatum
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:91397	"" []	1163482	\N	\N	EFO	3	EFO	Rare palpebral disease	Isolated ankyloblepharon filiforme adnatum
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91397	"" []	4402669	\N	\N	EFO	6	EFO	genetic disorder	Isolated ankyloblepharon filiforme adnatum
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91397	"" []	4402670	\N	\N	EFO	6	EFO	eye disease	Isolated ankyloblepharon filiforme adnatum
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91397	"" []	3197207	\N	\N	EFO	5	EFO	genetic disorder	Isolated ankyloblepharon filiforme adnatum
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:91397	"" []	2047201	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated ankyloblepharon filiforme adnatum
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:91397	"" []	2047202	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Isolated ankyloblepharon filiforme adnatum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91397	"" []	5060330	\N	\N	EFO	7	EFO	disease	Isolated ankyloblepharon filiforme adnatum
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91397	"" []	5060331	\N	\N	EFO	7	EFO	disease	Isolated ankyloblepharon filiforme adnatum
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:91397	"" []	3197208	\N	\N	EFO	5	EFO	Rare genetic eye disease	Isolated ankyloblepharon filiforme adnatum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91397	"" []	5877847	\N	\N	EFO	8	EFO	disposition	Isolated ankyloblepharon filiforme adnatum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91397	"" []	6471065	\N	\N	EFO	9	EFO	material property	Isolated ankyloblepharon filiforme adnatum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91397	"" []	6848872	\N	\N	EFO	10	EFO	experimental factor	Isolated ankyloblepharon filiforme adnatum
Orphanet:91411	\N	\N	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	78418	\N	\N	EFO	0	EFO	Congenital ptosis	Congenital ptosis
Orphanet:98578	Orphanet:91411	\N	"" []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	223241	\N	\N	EFO	1	EFO	Ptosis	Congenital ptosis
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	579747	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Congenital ptosis
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	1163483	\N	\N	EFO	3	EFO	Rare palpebral disease	Congenital ptosis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	2047203	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital ptosis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	3197209	\N	\N	EFO	5	EFO	Rare genetic eye disease	Congenital ptosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	4402671	\N	\N	EFO	6	EFO	genetic disorder	Congenital ptosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	4402672	\N	\N	EFO	6	EFO	eye disease	Congenital ptosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	5418621	\N	\N	EFO	7	EFO	disease	Congenital ptosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	5418622	\N	\N	EFO	7	EFO	disease	Congenital ptosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	6153117	\N	\N	EFO	8	EFO	disposition	Congenital ptosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	6634263	\N	\N	EFO	9	EFO	material property	Congenital ptosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91411	"Congenital ptosis is characterized by superior eyelid drop present at birth." []	6926286	\N	\N	EFO	10	EFO	experimental factor	Congenital ptosis
Orphanet:91412	\N	\N	"" []	Orphanet:91412	"" []	78419	\N	\N	EFO	0	EFO	Marcus-Gunn syndrome	Marcus-Gunn syndrome
Orphanet:98578	Orphanet:91412	\N	"" []	Orphanet:91412	"" []	223242	\N	\N	EFO	1	EFO	Ptosis	Marcus-Gunn syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:91412	"" []	579748	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Marcus-Gunn syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:91412	"" []	1163484	\N	\N	EFO	3	EFO	Rare palpebral disease	Marcus-Gunn syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:91412	"" []	2047204	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Marcus-Gunn syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:91412	"" []	3197210	\N	\N	EFO	5	EFO	Rare genetic eye disease	Marcus-Gunn syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91412	"" []	4402673	\N	\N	EFO	6	EFO	genetic disorder	Marcus-Gunn syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91412	"" []	4402674	\N	\N	EFO	6	EFO	eye disease	Marcus-Gunn syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91412	"" []	5418623	\N	\N	EFO	7	EFO	disease	Marcus-Gunn syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91412	"" []	5418624	\N	\N	EFO	7	EFO	disease	Marcus-Gunn syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91412	"" []	6153118	\N	\N	EFO	8	EFO	disposition	Marcus-Gunn syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91412	"" []	6634264	\N	\N	EFO	9	EFO	material property	Marcus-Gunn syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91412	"" []	6926287	\N	\N	EFO	10	EFO	experimental factor	Marcus-Gunn syndrome
Orphanet:91413	\N	\N	"" []	Orphanet:91413	"" []	78420	\N	\N	EFO	0	EFO	Congenital Horner syndrome	Congenital Horner syndrome
Orphanet:98578	Orphanet:91413	\N	"" []	Orphanet:91413	"" []	223243	\N	\N	EFO	1	EFO	Ptosis	Congenital Horner syndrome
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:91413	"" []	579749	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Congenital Horner syndrome
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:91413	"" []	1163485	\N	\N	EFO	3	EFO	Rare palpebral disease	Congenital Horner syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:91413	"" []	2047205	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital Horner syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:91413	"" []	3197211	\N	\N	EFO	5	EFO	Rare genetic eye disease	Congenital Horner syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91413	"" []	4402675	\N	\N	EFO	6	EFO	genetic disorder	Congenital Horner syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91413	"" []	4402676	\N	\N	EFO	6	EFO	eye disease	Congenital Horner syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91413	"" []	5418625	\N	\N	EFO	7	EFO	disease	Congenital Horner syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91413	"" []	5418626	\N	\N	EFO	7	EFO	disease	Congenital Horner syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91413	"" []	6153119	\N	\N	EFO	8	EFO	disposition	Congenital Horner syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91413	"" []	6634265	\N	\N	EFO	9	EFO	material property	Congenital Horner syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91413	"" []	6926288	\N	\N	EFO	10	EFO	experimental factor	Congenital Horner syndrome
Orphanet:91415	\N	\N	"" []	Orphanet:91415	"" []	78421	\N	\N	EFO	0	EFO	Familial capillary hemangioma	Familial capillary hemangioma
Orphanet:98592	Orphanet:91415	\N	"" []	Orphanet:91415	"" []	223244	\N	\N	EFO	1	EFO	Palpebral tumor with a vascular malformation	Familial capillary hemangioma
Orphanet:98580	Orphanet:98592	\N	"" []	Orphanet:91415	"" []	579750	\N	\N	EFO	2	EFO	Palpebral tumor	Familial capillary hemangioma
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:91415	"" []	1163486	\N	\N	EFO	3	EFO	Rare palpebral disease	Familial capillary hemangioma
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:91415	"" []	2047206	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Familial capillary hemangioma
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:91415	"" []	3197212	\N	\N	EFO	5	EFO	Rare genetic eye disease	Familial capillary hemangioma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91415	"" []	4402677	\N	\N	EFO	6	EFO	genetic disorder	Familial capillary hemangioma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91415	"" []	4402678	\N	\N	EFO	6	EFO	eye disease	Familial capillary hemangioma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91415	"" []	5418627	\N	\N	EFO	7	EFO	disease	Familial capillary hemangioma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91415	"" []	5418628	\N	\N	EFO	7	EFO	disease	Familial capillary hemangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91415	"" []	6153120	\N	\N	EFO	8	EFO	disposition	Familial capillary hemangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91415	"" []	6634266	\N	\N	EFO	9	EFO	material property	Familial capillary hemangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91415	"" []	6926289	\N	\N	EFO	10	EFO	experimental factor	Familial capillary hemangioma
Orphanet:91416	\N	\N	"" []	Orphanet:91416	"" []	78422	\N	\N	EFO	0	EFO	Isolated congenital alacrima	Isolated congenital alacrima
Orphanet:98604	Orphanet:91416	\N	"" []	Orphanet:91416	"" []	223245	\N	\N	EFO	1	EFO	Congenital alacrima	Isolated congenital alacrima
Orphanet:98603	Orphanet:98604	\N	"" []	Orphanet:91416	"" []	579751	\N	\N	EFO	2	EFO	Secretory apparatus of the lacrimal system anomaly	Isolated congenital alacrima
Orphanet:98602	Orphanet:98603	\N	"" []	Orphanet:91416	"" []	1163487	\N	\N	EFO	3	EFO	Rare lacrimal system disease	Isolated congenital alacrima
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:91416	"" []	2047207	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Isolated congenital alacrima
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:91416	"" []	3197213	\N	\N	EFO	5	EFO	Rare genetic eye disease	Isolated congenital alacrima
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91416	"" []	4402679	\N	\N	EFO	6	EFO	genetic disorder	Isolated congenital alacrima
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91416	"" []	4402680	\N	\N	EFO	6	EFO	eye disease	Isolated congenital alacrima
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91416	"" []	5418629	\N	\N	EFO	7	EFO	disease	Isolated congenital alacrima
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91416	"" []	5418630	\N	\N	EFO	7	EFO	disease	Isolated congenital alacrima
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91416	"" []	6153121	\N	\N	EFO	8	EFO	disposition	Isolated congenital alacrima
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91416	"" []	6634267	\N	\N	EFO	9	EFO	material property	Isolated congenital alacrima
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91416	"" []	6926290	\N	\N	EFO	10	EFO	experimental factor	Isolated congenital alacrima
Orphanet:91483	\N	\N	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	78423	\N	\N	EFO	0	EFO	Rieger anomaly	Rieger anomaly
Orphanet:98634	Orphanet:91483	\N	"" []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	223246	\N	\N	EFO	1	EFO	Iridogoniodysgenesis	Rieger anomaly
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	579752	\N	\N	EFO	2	EFO	Glaucoma associated with neural crest cell migration anomaly	Rieger anomaly
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	1163488	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Rieger anomaly
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	2047208	\N	\N	EFO	4	EFO	Hereditary glaucoma	Rieger anomaly
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	3197214	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Rieger anomaly
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	4402681	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Rieger anomaly
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	5418631	\N	\N	EFO	7	EFO	Rare genetic eye disease	Rieger anomaly
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	5418632	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Rieger anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	6153122	\N	\N	EFO	8	EFO	genetic disorder	Rieger anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	6153123	\N	\N	EFO	8	EFO	eye disease	Rieger anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	6153124	\N	\N	EFO	8	EFO	genetic disorder	Rieger anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	6634268	\N	\N	EFO	9	EFO	disease	Rieger anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	6634269	\N	\N	EFO	9	EFO	disease	Rieger anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	6926291	\N	\N	EFO	10	EFO	disposition	Rieger anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	7099321	\N	\N	EFO	11	EFO	material property	Rieger anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91483	"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term)." []	7208359	\N	\N	EFO	12	EFO	experimental factor	Rieger anomaly
Orphanet:91489	\N	\N	"" []	Orphanet:91489	"" []	78424	\N	\N	EFO	0	EFO	Isolated congenital megalocornea	Isolated congenital megalocornea
Orphanet:98635	Orphanet:91489	\N	"" []	Orphanet:91489	"" []	223247	\N	\N	EFO	1	EFO	Corneogoniodysgenesis	Isolated congenital megalocornea
Orphanet:98632	Orphanet:98635	\N	"" []	Orphanet:91489	"" []	579753	\N	\N	EFO	2	EFO	Glaucoma associated with neural crest cell migration anomaly	Isolated congenital megalocornea
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:91489	"" []	1163489	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Isolated congenital megalocornea
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:91489	"" []	2047209	\N	\N	EFO	4	EFO	Hereditary glaucoma	Isolated congenital megalocornea
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:91489	"" []	3197215	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Isolated congenital megalocornea
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:91489	"" []	4402682	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Isolated congenital megalocornea
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:91489	"" []	5418633	\N	\N	EFO	7	EFO	Rare genetic eye disease	Isolated congenital megalocornea
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:91489	"" []	5418634	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Isolated congenital megalocornea
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91489	"" []	6153125	\N	\N	EFO	8	EFO	genetic disorder	Isolated congenital megalocornea
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91489	"" []	6153126	\N	\N	EFO	8	EFO	eye disease	Isolated congenital megalocornea
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91489	"" []	6153127	\N	\N	EFO	8	EFO	genetic disorder	Isolated congenital megalocornea
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91489	"" []	6634270	\N	\N	EFO	9	EFO	disease	Isolated congenital megalocornea
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91489	"" []	6634271	\N	\N	EFO	9	EFO	disease	Isolated congenital megalocornea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91489	"" []	6926292	\N	\N	EFO	10	EFO	disposition	Isolated congenital megalocornea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91489	"" []	7099322	\N	\N	EFO	11	EFO	material property	Isolated congenital megalocornea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91489	"" []	7208360	\N	\N	EFO	12	EFO	experimental factor	Isolated congenital megalocornea
Orphanet:91490	\N	\N	"" []	Orphanet:91490	"" []	78425	\N	\N	EFO	0	EFO	Isolated congenital sclerocornea	Isolated congenital sclerocornea
Orphanet:98635	Orphanet:91490	\N	"" []	Orphanet:91490	"" []	223248	\N	\N	EFO	1	EFO	Corneogoniodysgenesis	Isolated congenital sclerocornea
Orphanet:98632	Orphanet:98635	\N	"" []	Orphanet:91490	"" []	579754	\N	\N	EFO	2	EFO	Glaucoma associated with neural crest cell migration anomaly	Isolated congenital sclerocornea
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:91490	"" []	1163490	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Isolated congenital sclerocornea
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:91490	"" []	2047210	\N	\N	EFO	4	EFO	Hereditary glaucoma	Isolated congenital sclerocornea
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:91490	"" []	3197216	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Isolated congenital sclerocornea
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:91490	"" []	4402683	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Isolated congenital sclerocornea
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:91490	"" []	5418635	\N	\N	EFO	7	EFO	Rare genetic eye disease	Isolated congenital sclerocornea
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:91490	"" []	5418636	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Isolated congenital sclerocornea
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91490	"" []	6153128	\N	\N	EFO	8	EFO	genetic disorder	Isolated congenital sclerocornea
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91490	"" []	6153129	\N	\N	EFO	8	EFO	eye disease	Isolated congenital sclerocornea
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91490	"" []	6153130	\N	\N	EFO	8	EFO	genetic disorder	Isolated congenital sclerocornea
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91490	"" []	6634272	\N	\N	EFO	9	EFO	disease	Isolated congenital sclerocornea
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91490	"" []	6634273	\N	\N	EFO	9	EFO	disease	Isolated congenital sclerocornea
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91490	"" []	6926293	\N	\N	EFO	10	EFO	disposition	Isolated congenital sclerocornea
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91490	"" []	7099323	\N	\N	EFO	11	EFO	material property	Isolated congenital sclerocornea
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91490	"" []	7208361	\N	\N	EFO	12	EFO	experimental factor	Isolated congenital sclerocornea
Orphanet:91491	\N	\N	"" []	Orphanet:91491	"" []	78426	\N	\N	EFO	0	EFO	Congenital ectropion uveae	Congenital ectropion uveae
Orphanet:98634	Orphanet:91491	\N	"" []	Orphanet:91491	"" []	223249	\N	\N	EFO	1	EFO	Iridogoniodysgenesis	Congenital ectropion uveae
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:91491	"" []	579755	\N	\N	EFO	2	EFO	Glaucoma associated with neural crest cell migration anomaly	Congenital ectropion uveae
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:91491	"" []	1163491	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Congenital ectropion uveae
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:91491	"" []	2047211	\N	\N	EFO	4	EFO	Hereditary glaucoma	Congenital ectropion uveae
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:91491	"" []	3197217	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Congenital ectropion uveae
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:91491	"" []	4402684	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Congenital ectropion uveae
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:91491	"" []	5418637	\N	\N	EFO	7	EFO	Rare genetic eye disease	Congenital ectropion uveae
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:91491	"" []	5418638	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital ectropion uveae
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91491	"" []	6153131	\N	\N	EFO	8	EFO	genetic disorder	Congenital ectropion uveae
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91491	"" []	6153132	\N	\N	EFO	8	EFO	eye disease	Congenital ectropion uveae
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91491	"" []	6153133	\N	\N	EFO	8	EFO	genetic disorder	Congenital ectropion uveae
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91491	"" []	6634274	\N	\N	EFO	9	EFO	disease	Congenital ectropion uveae
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91491	"" []	6634275	\N	\N	EFO	9	EFO	disease	Congenital ectropion uveae
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91491	"" []	6926294	\N	\N	EFO	10	EFO	disposition	Congenital ectropion uveae
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91491	"" []	7099324	\N	\N	EFO	11	EFO	material property	Congenital ectropion uveae
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91491	"" []	7208362	\N	\N	EFO	12	EFO	experimental factor	Congenital ectropion uveae
Orphanet:91492	\N	\N	"" []	Orphanet:91492	"" []	78427	\N	\N	EFO	0	EFO	Non-syndromic congenital cataract	Non-syndromic congenital cataract
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:91492	"" []	223250	\N	\N	EFO	1	EFO	Non-syndromic developmental defect of the eye	Non-syndromic congenital cataract
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:91492	"" []	223251	\N	\N	EFO	1	EFO	Rare non-syndromic cataract	Non-syndromic congenital cataract
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:91492	"" []	579756	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Non-syndromic congenital cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:91492	"" []	579757	\N	\N	EFO	2	EFO	Rare cataract	Non-syndromic congenital cataract
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:91492	"" []	1163492	\N	\N	EFO	3	EFO	Rare genetic eye disease	Non-syndromic congenital cataract
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:91492	"" []	1163493	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic congenital cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:91492	"" []	1163494	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Non-syndromic congenital cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91492	"" []	3197220	\N	\N	EFO	5	EFO	genetic disorder	Non-syndromic congenital cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91492	"" []	3197221	\N	\N	EFO	5	EFO	eye disease	Non-syndromic congenital cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91492	"" []	2047214	\N	\N	EFO	4	EFO	genetic disorder	Non-syndromic congenital cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:91492	"" []	2047215	\N	\N	EFO	4	EFO	Rare genetic eye disease	Non-syndromic congenital cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91492	"" []	4134482	\N	\N	EFO	6	EFO	disease	Non-syndromic congenital cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91492	"" []	4134483	\N	\N	EFO	6	EFO	disease	Non-syndromic congenital cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91492	"" []	5183564	\N	\N	EFO	7	EFO	disposition	Non-syndromic congenital cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91492	"" []	5998882	\N	\N	EFO	8	EFO	material property	Non-syndromic congenital cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91492	"" []	6551885	\N	\N	EFO	9	EFO	experimental factor	Non-syndromic congenital cataract
Orphanet:91494	\N	\N	"" []	Orphanet:91494	"" []	78428	\N	\N	EFO	0	EFO	Macular coloboma - cleft palate - hallux valgus	Macular coloboma - cleft palate - hallux valgus
Orphanet:108987	Orphanet:91494	\N	"" []	Orphanet:91494	"" []	223252	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Macular coloboma - cleft palate - hallux valgus
Orphanet:139039	Orphanet:91494	\N	"" []	Orphanet:91494	"" []	223253	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Macular coloboma - cleft palate - hallux valgus
Orphanet:98665	Orphanet:91494	\N	"" []	Orphanet:91494	"" []	223254	\N	\N	EFO	1	EFO	Colobomatous and areolar dystrophy	Macular coloboma - cleft palate - hallux valgus
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:91494	"" []	579758	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Macular coloboma - cleft palate - hallux valgus
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:91494	"" []	579759	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Macular coloboma - cleft palate - hallux valgus
Orphanet:98664	Orphanet:98665	\N	"" []	Orphanet:91494	"" []	579760	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Macular coloboma - cleft palate - hallux valgus
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:91494	"" []	1163495	\N	\N	EFO	3	EFO	Rare genetic eye disease	Macular coloboma - cleft palate - hallux valgus
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:91494	"" []	1163496	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Macular coloboma - cleft palate - hallux valgus
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:91494	"" []	1163497	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Macular coloboma - cleft palate - hallux valgus
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:91494	"" []	1163498	\N	\N	EFO	3	EFO	Retinal dystrophy	Macular coloboma - cleft palate - hallux valgus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91494	"" []	4402688	\N	\N	EFO	6	EFO	genetic disorder	Macular coloboma - cleft palate - hallux valgus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91494	"" []	4402689	\N	\N	EFO	6	EFO	eye disease	Macular coloboma - cleft palate - hallux valgus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91494	"" []	4402687	\N	\N	EFO	6	EFO	genetic disorder	Macular coloboma - cleft palate - hallux valgus
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:91494	"" []	2047219	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Macular coloboma - cleft palate - hallux valgus
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:91494	"" []	2047220	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Macular coloboma - cleft palate - hallux valgus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91494	"" []	5060332	\N	\N	EFO	7	EFO	disease	Macular coloboma - cleft palate - hallux valgus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91494	"" []	5060333	\N	\N	EFO	7	EFO	disease	Macular coloboma - cleft palate - hallux valgus
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:91494	"" []	3197224	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Macular coloboma - cleft palate - hallux valgus
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:91494	"" []	3197225	\N	\N	EFO	5	EFO	Rare genetic eye disease	Macular coloboma - cleft palate - hallux valgus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91494	"" []	5877848	\N	\N	EFO	8	EFO	disposition	Macular coloboma - cleft palate - hallux valgus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91494	"" []	6471066	\N	\N	EFO	9	EFO	material property	Macular coloboma - cleft palate - hallux valgus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91494	"" []	6848873	\N	\N	EFO	10	EFO	experimental factor	Macular coloboma - cleft palate - hallux valgus
Orphanet:91495	\N	\N	"" []	Orphanet:91495	"" []	78429	\N	\N	EFO	0	EFO	Persistent hyperplastic primary vitreous	Persistent hyperplastic primary vitreous
Orphanet:98641	Orphanet:91495	\N	"" []	Orphanet:91495	"" []	223255	\N	\N	EFO	1	EFO	Syndromic cataract	Persistent hyperplastic primary vitreous
Orphanet:98669	Orphanet:91495	\N	"" []	Orphanet:91495	"" []	223256	\N	\N	EFO	1	EFO	Congenital vitreoretinal dysplasia	Persistent hyperplastic primary vitreous
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:91495	"" []	579761	\N	\N	EFO	2	EFO	Rare cataract	Persistent hyperplastic primary vitreous
Orphanet:98668	Orphanet:98669	\N	"" []	Orphanet:91495	"" []	579762	\N	\N	EFO	2	EFO	Vitreoretinopathy	Persistent hyperplastic primary vitreous
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:91495	"" []	1163499	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Persistent hyperplastic primary vitreous
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:91495	"" []	1163500	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Persistent hyperplastic primary vitreous
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:91495	"" []	2047221	\N	\N	EFO	4	EFO	Rare genetic eye disease	Persistent hyperplastic primary vitreous
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:91495	"" []	2047222	\N	\N	EFO	4	EFO	Rare genetic eye disease	Persistent hyperplastic primary vitreous
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91495	"" []	3197226	\N	\N	EFO	5	EFO	genetic disorder	Persistent hyperplastic primary vitreous
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91495	"" []	3197227	\N	\N	EFO	5	EFO	eye disease	Persistent hyperplastic primary vitreous
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91495	"" []	4402690	\N	\N	EFO	6	EFO	disease	Persistent hyperplastic primary vitreous
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91495	"" []	4402691	\N	\N	EFO	6	EFO	disease	Persistent hyperplastic primary vitreous
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91495	"" []	5418641	\N	\N	EFO	7	EFO	disposition	Persistent hyperplastic primary vitreous
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91495	"" []	6153136	\N	\N	EFO	8	EFO	material property	Persistent hyperplastic primary vitreous
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91495	"" []	6634276	\N	\N	EFO	9	EFO	experimental factor	Persistent hyperplastic primary vitreous
Orphanet:91496	\N	\N	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	Orphanet:91496	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	78430	\N	\N	EFO	0	EFO	Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration
Orphanet:98670	Orphanet:91496	\N	"" []	Orphanet:91496	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	223257	\N	\N	EFO	1	EFO	Vitreoretinal degeneration	Snowflake vitreoretinal degeneration
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:91496	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	579763	\N	\N	EFO	2	EFO	Vitreoretinopathy	Snowflake vitreoretinal degeneration
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:91496	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	1163501	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Snowflake vitreoretinal degeneration
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:91496	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	2047223	\N	\N	EFO	4	EFO	Rare genetic eye disease	Snowflake vitreoretinal degeneration
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91496	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	3197228	\N	\N	EFO	5	EFO	genetic disorder	Snowflake vitreoretinal degeneration
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91496	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	3197229	\N	\N	EFO	5	EFO	eye disease	Snowflake vitreoretinal degeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91496	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	4402692	\N	\N	EFO	6	EFO	disease	Snowflake vitreoretinal degeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91496	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	4402693	\N	\N	EFO	6	EFO	disease	Snowflake vitreoretinal degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91496	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	5418642	\N	\N	EFO	7	EFO	disposition	Snowflake vitreoretinal degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91496	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	6153137	\N	\N	EFO	8	EFO	material property	Snowflake vitreoretinal degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91496	"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. " []	6634277	\N	\N	EFO	9	EFO	experimental factor	Snowflake vitreoretinal degeneration
Orphanet:91498	\N	\N	"" []	Orphanet:91498	"" []	78431	\N	\N	EFO	0	EFO	Familial congenital palsy of trochlear nerve	Familial congenital palsy of trochlear nerve
Orphanet:98686	Orphanet:91498	\N	"" []	Orphanet:91498	"" []	223258	\N	\N	EFO	1	EFO	Congenital trochlear nerve palsy	Familial congenital palsy of trochlear nerve
Orphanet:100932	Orphanet:98686	\N	"" []	Orphanet:91498	"" []	579764	\N	\N	EFO	2	EFO	Nuclear oculomotor paralysis	Familial congenital palsy of trochlear nerve
Orphanet:98685	Orphanet:100932	\N	"" []	Orphanet:91498	"" []	1163502	\N	\N	EFO	3	EFO	Oculomotor palsy	Familial congenital palsy of trochlear nerve
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:91498	"" []	2047224	\N	\N	EFO	4	EFO	palsy	Familial congenital palsy of trochlear nerve
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:91498	"" []	2047225	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Familial congenital palsy of trochlear nerve
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:91498	"" []	3197230	\N	\N	EFO	5	EFO	nervous system disease	Familial congenital palsy of trochlear nerve
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:91498	"" []	3197231	\N	\N	EFO	5	EFO	Rare genetic eye disease	Familial congenital palsy of trochlear nerve
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91498	"" []	4402694	\N	\N	EFO	6	EFO	disease	Familial congenital palsy of trochlear nerve
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:91498	"" []	4402695	\N	\N	EFO	6	EFO	genetic disorder	Familial congenital palsy of trochlear nerve
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:91498	"" []	4402696	\N	\N	EFO	6	EFO	eye disease	Familial congenital palsy of trochlear nerve
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:91498	"" []	6153139	\N	\N	EFO	8	EFO	disposition	Familial congenital palsy of trochlear nerve
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91498	"" []	5418644	\N	\N	EFO	7	EFO	disease	Familial congenital palsy of trochlear nerve
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:91498	"" []	5418645	\N	\N	EFO	7	EFO	disease	Familial congenital palsy of trochlear nerve
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:91498	"" []	6551886	\N	\N	EFO	9	EFO	material property	Familial congenital palsy of trochlear nerve
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:91498	"" []	6889559	\N	\N	EFO	10	EFO	experimental factor	Familial congenital palsy of trochlear nerve
Orphanet:915	\N	\N	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	78432	\N	\N	EFO	0	EFO	Aarskog-Scott syndrome	Aarskog-Scott syndrome
Orphanet:102283	Orphanet:915	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	223259	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Aarskog-Scott syndrome
Orphanet:165707	Orphanet:915	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	223260	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Aarskog-Scott syndrome
Orphanet:183570	Orphanet:915	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	223261	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Aarskog-Scott syndrome
Orphanet:330197	Orphanet:915	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	223262	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Aarskog-Scott syndrome
Orphanet:89832	Orphanet:915	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	223263	\N	\N	EFO	1	EFO	Syndromic lymphedema	Aarskog-Scott syndrome
Orphanet:98464	Orphanet:915	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	223264	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Aarskog-Scott syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	579765	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Aarskog-Scott syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	579766	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Aarskog-Scott syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	579767	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Aarskog-Scott syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	579768	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Aarskog-Scott syndrome
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	579769	\N	\N	EFO	2	EFO	Lymphedema	Aarskog-Scott syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	579770	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Aarskog-Scott syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	1163503	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Aarskog-Scott syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	1163504	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Aarskog-Scott syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	2047226	\N	\N	EFO	4	EFO	genetic disorder	Aarskog-Scott syndrome
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	1163506	\N	\N	EFO	3	EFO	Rare genetic skin disease	Aarskog-Scott syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	1163507	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Aarskog-Scott syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	2047227	\N	\N	EFO	4	EFO	genetic disorder	Aarskog-Scott syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	4402698	\N	\N	EFO	6	EFO	disease	Aarskog-Scott syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	2047229	\N	\N	EFO	4	EFO	genetic disorder	Aarskog-Scott syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	2047230	\N	\N	EFO	4	EFO	skin disease	Aarskog-Scott syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	2047231	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Aarskog-Scott syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	5060334	\N	\N	EFO	7	EFO	disposition	Aarskog-Scott syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	3197233	\N	\N	EFO	5	EFO	disease	Aarskog-Scott syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	3197234	\N	\N	EFO	5	EFO	genetic disorder	Aarskog-Scott syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	5877849	\N	\N	EFO	8	EFO	material property	Aarskog-Scott syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:915	"Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." []	6471067	\N	\N	EFO	9	EFO	experimental factor	Aarskog-Scott syndrome
Orphanet:916	\N	\N	"" []	Orphanet:916	"" []	78433	\N	\N	EFO	0	EFO	Aase-Smith syndrome	Aase-Smith syndrome
Orphanet:139039	Orphanet:916	\N	"" []	Orphanet:916	"" []	223265	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Aase-Smith syndrome
Orphanet:269570	Orphanet:916	\N	"" []	Orphanet:916	"" []	223266	\N	\N	EFO	1	EFO	Genetic syndrome with a Dandy-Walker malformation as major feature	Aase-Smith syndrome
Orphanet:330206	Orphanet:916	\N	"" []	Orphanet:916	"" []	223267	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Aase-Smith syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:916	"" []	579771	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Aase-Smith syndrome
Orphanet:269567	Orphanet:269570	\N	"" []	Orphanet:916	"" []	579772	\N	\N	EFO	2	EFO	Genetic syndrome with a cerebellar malformation as major feature	Aase-Smith syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:916	"" []	579773	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Aase-Smith syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:916	"" []	1163508	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Aase-Smith syndrome
Orphanet:269564	Orphanet:269567	\N	"" []	Orphanet:916	"" []	1163509	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Aase-Smith syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:916	"" []	1163510	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Aase-Smith syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:916	"" []	2047232	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Aase-Smith syndrome
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:916	"" []	2047233	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Aase-Smith syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:916	"" []	4402699	\N	\N	EFO	6	EFO	genetic disorder	Aase-Smith syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:916	"" []	3197235	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Aase-Smith syndrome
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:916	"" []	3197236	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Aase-Smith syndrome
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:916	"" []	3197237	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Aase-Smith syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:916	"" []	5060335	\N	\N	EFO	7	EFO	disease	Aase-Smith syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:916	"" []	4402700	\N	\N	EFO	6	EFO	genetic disorder	Aase-Smith syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:916	"" []	5877850	\N	\N	EFO	8	EFO	disposition	Aase-Smith syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:916	"" []	6471068	\N	\N	EFO	9	EFO	material property	Aase-Smith syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:916	"" []	6848874	\N	\N	EFO	10	EFO	experimental factor	Aase-Smith syndrome
Orphanet:920	\N	\N	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	78434	\N	\N	EFO	0	EFO	Ablepharon macrostomia syndrome	Ablepharon macrostomia syndrome
Orphanet:108987	Orphanet:920	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	223268	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Ablepharon macrostomia syndrome
Orphanet:139039	Orphanet:920	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	223269	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Ablepharon macrostomia syndrome
Orphanet:330197	Orphanet:920	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	223270	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Ablepharon macrostomia syndrome
Orphanet:98563	Orphanet:920	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	223271	\N	\N	EFO	1	EFO	Microblepharon - ablephara	Ablepharon macrostomia syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	579774	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Ablepharon macrostomia syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	579775	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Ablepharon macrostomia syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	579776	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Ablepharon macrostomia syndrome
Orphanet:98561	Orphanet:98563	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	579777	\N	\N	EFO	2	EFO	Eyelid malformation	Ablepharon macrostomia syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	1163511	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ablepharon macrostomia syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	1163512	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ablepharon macrostomia syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	1163513	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Ablepharon macrostomia syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	1163514	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ablepharon macrostomia syndrome
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	1163515	\N	\N	EFO	3	EFO	Rare palpebral disease	Ablepharon macrostomia syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	4402704	\N	\N	EFO	6	EFO	genetic disorder	Ablepharon macrostomia syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	4402705	\N	\N	EFO	6	EFO	eye disease	Ablepharon macrostomia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	4402703	\N	\N	EFO	6	EFO	genetic disorder	Ablepharon macrostomia syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	2047238	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Ablepharon macrostomia syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	2047239	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Ablepharon macrostomia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	5060336	\N	\N	EFO	7	EFO	disease	Ablepharon macrostomia syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	5060337	\N	\N	EFO	7	EFO	disease	Ablepharon macrostomia syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	3197241	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ablepharon macrostomia syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	3197242	\N	\N	EFO	5	EFO	Rare genetic eye disease	Ablepharon macrostomia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	5877851	\N	\N	EFO	8	EFO	disposition	Ablepharon macrostomia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	6471069	\N	\N	EFO	9	EFO	material property	Ablepharon macrostomia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:920	"Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." []	6848875	\N	\N	EFO	10	EFO	experimental factor	Ablepharon macrostomia syndrome
Orphanet:92050	\N	\N	"" []	Orphanet:92050	"" []	78435	\N	\N	EFO	0	EFO	Intestinal epithelial dysplasia	Intestinal epithelial dysplasia
Orphanet:104007	Orphanet:92050	\N	"" []	Orphanet:92050	"" []	223272	\N	\N	EFO	1	EFO	Congenital enteropathy involving intestinal mucosa development	Intestinal epithelial dysplasia
Orphanet:363300	Orphanet:92050	\N	"" []	Orphanet:92050	"" []	223273	\N	\N	EFO	1	EFO	Genetic intractable diarrhea of infancy	Intestinal epithelial dysplasia
Orphanet:165655	Orphanet:104007	\N	"" []	Orphanet:92050	"" []	579778	\N	\N	EFO	2	EFO	Genetic intestinal disease	Intestinal epithelial dysplasia
Orphanet:165655	Orphanet:363300	\N	"" []	Orphanet:92050	"" []	579779	\N	\N	EFO	2	EFO	Genetic intestinal disease	Intestinal epithelial dysplasia
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:92050	"" []	1163516	\N	\N	EFO	3	EFO	digestive system disease	Intestinal epithelial dysplasia
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:92050	"" []	1163517	\N	\N	EFO	3	EFO	Rare genetic gastroenterological disease	Intestinal epithelial dysplasia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:92050	"" []	2047240	\N	\N	EFO	4	EFO	disease	Intestinal epithelial dysplasia
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:92050	"" []	2047241	\N	\N	EFO	4	EFO	genetic disorder	Intestinal epithelial dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:92050	"" []	4402707	\N	\N	EFO	6	EFO	disposition	Intestinal epithelial dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:92050	"" []	3197244	\N	\N	EFO	5	EFO	disease	Intestinal epithelial dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:92050	"" []	5183566	\N	\N	EFO	7	EFO	material property	Intestinal epithelial dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:92050	"" []	5998884	\N	\N	EFO	8	EFO	experimental factor	Intestinal epithelial dysplasia
Orphanet:921	\N	\N	"" []	Orphanet:921	"" []	78436	\N	\N	EFO	0	EFO	Abruzzo-Erickson syndrome	Abruzzo-Erickson syndrome
Orphanet:139039	Orphanet:921	\N	"" []	Orphanet:921	"" []	223274	\N	\N	EFO	1	EFO	Orofacial clefting syndrome	Abruzzo-Erickson syndrome
Orphanet:165707	Orphanet:921	\N	"" []	Orphanet:921	"" []	223275	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Abruzzo-Erickson syndrome
Orphanet:330206	Orphanet:921	\N	"" []	Orphanet:921	"" []	223276	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Abruzzo-Erickson syndrome
Orphanet:156237	Orphanet:139039	\N	"" []	Orphanet:921	"" []	579780	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Abruzzo-Erickson syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:921	"" []	579781	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Abruzzo-Erickson syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:921	"" []	579782	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Abruzzo-Erickson syndrome
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:921	"" []	1163518	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Abruzzo-Erickson syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:921	"" []	1163519	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Abruzzo-Erickson syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:921	"" []	1163520	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Abruzzo-Erickson syndrome
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:921	"" []	2047242	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Abruzzo-Erickson syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:921	"" []	2047243	\N	\N	EFO	4	EFO	genetic disorder	Abruzzo-Erickson syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:921	"" []	4402708	\N	\N	EFO	6	EFO	genetic disorder	Abruzzo-Erickson syndrome
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:921	"" []	3197245	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Abruzzo-Erickson syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:921	"" []	5060338	\N	\N	EFO	7	EFO	disease	Abruzzo-Erickson syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:921	"" []	5877852	\N	\N	EFO	8	EFO	disposition	Abruzzo-Erickson syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:921	"" []	6471070	\N	\N	EFO	9	EFO	material property	Abruzzo-Erickson syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:921	"" []	6848876	\N	\N	EFO	10	EFO	experimental factor	Abruzzo-Erickson syndrome
Orphanet:926	\N	\N	"" []	Orphanet:926	"" []	78437	\N	\N	EFO	0	EFO	Acatalasemia	Acatalasemia
Orphanet:309810	Orphanet:926	\N	"" []	Orphanet:926	"" []	223277	\N	\N	EFO	1	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	Acatalasemia
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:926	"" []	579783	\N	\N	EFO	2	EFO	Peroxisomal disease	Acatalasemia
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:926	"" []	1163521	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Acatalasemia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:926	"" []	2047245	\N	\N	EFO	4	EFO	genetic disorder	Acatalasemia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:926	"" []	2047246	\N	\N	EFO	4	EFO	metabolic disease	Acatalasemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:926	"" []	3197247	\N	\N	EFO	5	EFO	disease	Acatalasemia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:926	"" []	3197248	\N	\N	EFO	5	EFO	disease	Acatalasemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:926	"" []	4402710	\N	\N	EFO	6	EFO	disposition	Acatalasemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:926	"" []	5418651	\N	\N	EFO	7	EFO	material property	Acatalasemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:926	"" []	6153143	\N	\N	EFO	8	EFO	experimental factor	Acatalasemia
Orphanet:927	\N	\N	"" []	Orphanet:927	"" []	78438	\N	\N	EFO	0	EFO	Hyperammonemia due to N-acetylglutamate synthetase deficiency	Hyperammonemia due to N-acetylglutamate synthetase deficiency
Orphanet:79167	Orphanet:927	\N	"" []	Orphanet:927	"" []	223278	\N	\N	EFO	1	EFO	Disorder of urea cycle metabolism and ammonia detoxification	Hyperammonemia due to N-acetylglutamate synthetase deficiency
Orphanet:79062	Orphanet:79167	\N	"" []	Orphanet:927	"" []	579784	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Hyperammonemia due to N-acetylglutamate synthetase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:927	"" []	1163522	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hyperammonemia due to N-acetylglutamate synthetase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:927	"" []	2047247	\N	\N	EFO	4	EFO	genetic disorder	Hyperammonemia due to N-acetylglutamate synthetase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:927	"" []	2047248	\N	\N	EFO	4	EFO	metabolic disease	Hyperammonemia due to N-acetylglutamate synthetase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:927	"" []	3197249	\N	\N	EFO	5	EFO	disease	Hyperammonemia due to N-acetylglutamate synthetase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:927	"" []	3197250	\N	\N	EFO	5	EFO	disease	Hyperammonemia due to N-acetylglutamate synthetase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:927	"" []	4402711	\N	\N	EFO	6	EFO	disposition	Hyperammonemia due to N-acetylglutamate synthetase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:927	"" []	5418652	\N	\N	EFO	7	EFO	material property	Hyperammonemia due to N-acetylglutamate synthetase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:927	"" []	6153144	\N	\N	EFO	8	EFO	experimental factor	Hyperammonemia due to N-acetylglutamate synthetase deficiency
Orphanet:929	\N	\N	"" []	Orphanet:929	"" []	78439	\N	\N	EFO	0	EFO	Achalasia - microcephaly	Achalasia - microcephaly
Orphanet:371445	Orphanet:929	\N	"" []	Orphanet:929	"" []	223279	\N	\N	EFO	1	EFO	Genetic syndromic esophageal malformation	Achalasia - microcephaly
Orphanet:88993	Orphanet:371445	\N	"" []	Orphanet:929	"" []	579785	\N	\N	EFO	2	EFO	Esophageal malformation	Achalasia - microcephaly
Orphanet:183545	Orphanet:88993	\N	"" []	Orphanet:929	"" []	1163523	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Achalasia - microcephaly
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:929	"" []	2047249	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Achalasia - microcephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:929	"" []	3197251	\N	\N	EFO	5	EFO	genetic disorder	Achalasia - microcephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:929	"" []	4402712	\N	\N	EFO	6	EFO	disease	Achalasia - microcephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:929	"" []	5418653	\N	\N	EFO	7	EFO	disposition	Achalasia - microcephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:929	"" []	6153145	\N	\N	EFO	8	EFO	material property	Achalasia - microcephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:929	"" []	6634279	\N	\N	EFO	9	EFO	experimental factor	Achalasia - microcephaly
Orphanet:93	\N	\N	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	78440	\N	\N	EFO	0	EFO	Aspartylglucosaminuria	Aspartylglucosaminuria
Orphanet:68385	Orphanet:93	\N	"" []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	223280	\N	\N	EFO	1	EFO	Neurometabolic disease	Aspartylglucosaminuria
Orphanet:79215	Orphanet:93	\N	"" []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	223281	\N	\N	EFO	1	EFO	Oligosaccharidosis	Aspartylglucosaminuria
Orphanet:93448	Orphanet:93	\N	"" []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	223282	\N	\N	EFO	1	EFO	Lysosomal storage disease with skeletal involvement	Aspartylglucosaminuria
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	579786	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Aspartylglucosaminuria
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	579787	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Aspartylglucosaminuria
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	579788	\N	\N	EFO	2	EFO	Glycoproteinosis	Aspartylglucosaminuria
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	579789	\N	\N	EFO	2	EFO	Rare genetic bone disease	Aspartylglucosaminuria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	1163524	\N	\N	EFO	3	EFO	genetic disorder	Aspartylglucosaminuria
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	1163525	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Aspartylglucosaminuria
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	1163526	\N	\N	EFO	3	EFO	Lysosomal disease	Aspartylglucosaminuria
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	1163527	\N	\N	EFO	3	EFO	genetic disorder	Aspartylglucosaminuria
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	1163528	\N	\N	EFO	3	EFO	bone disease	Aspartylglucosaminuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	4402714	\N	\N	EFO	6	EFO	disease	Aspartylglucosaminuria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	2047251	\N	\N	EFO	4	EFO	genetic disorder	Aspartylglucosaminuria
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	2047252	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Aspartylglucosaminuria
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	2047253	\N	\N	EFO	4	EFO	skeletal system disease	Aspartylglucosaminuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	5060339	\N	\N	EFO	7	EFO	disposition	Aspartylglucosaminuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	3197254	\N	\N	EFO	5	EFO	genetic disorder	Aspartylglucosaminuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	3197255	\N	\N	EFO	5	EFO	metabolic disease	Aspartylglucosaminuria
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	3197256	\N	\N	EFO	5	EFO	disease	Aspartylglucosaminuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	5877853	\N	\N	EFO	8	EFO	material property	Aspartylglucosaminuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	4402715	\N	\N	EFO	6	EFO	disease	Aspartylglucosaminuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93	"Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." []	6471071	\N	\N	EFO	9	EFO	experimental factor	Aspartylglucosaminuria
Orphanet:931	\N	\N	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	78441	\N	\N	EFO	0	EFO	Acheiropodia	Acheiropodia
EFO:0005571	Orphanet:931	\N	"A bone development disease that results_in defective development of cartilage or bone." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	223283	\N	\N	EFO	1	EFO	osteochondrodysplasia	Acheiropodia
Orphanet:294929	Orphanet:931	\N	"" []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	223284	\N	\N	EFO	1	EFO	Terminal limb defects	Acheiropodia
EFO:0005541	EFO:0005571	\N	"A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	579790	\N	\N	EFO	2	EFO	bone development disease	Acheiropodia
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	579791	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Acheiropodia
EFO:0004260	EFO:0005541	\N	"Diseases of BONES." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	1163529	\N	\N	EFO	3	EFO	bone disease	Acheiropodia
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	1163530	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Acheiropodia
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	1163531	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acheiropodia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	5418657	\N	\N	EFO	7	EFO	skeletal system disease	Acheiropodia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	2047255	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Acheiropodia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	2047256	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Acheiropodia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	5817910	\N	\N	EFO	8	EFO	disease	Acheiropodia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	3197258	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acheiropodia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	3197259	\N	\N	EFO	5	EFO	Rare genetic bone disease	Acheiropodia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	3197260	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Acheiropodia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	6410417	\N	\N	EFO	9	EFO	disposition	Acheiropodia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	5418658	\N	\N	EFO	7	EFO	genetic disorder	Acheiropodia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	4402718	\N	\N	EFO	6	EFO	genetic disorder	Acheiropodia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	4402719	\N	\N	EFO	6	EFO	bone disease	Acheiropodia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	4402720	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acheiropodia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	6808217	\N	\N	EFO	10	EFO	material property	Acheiropodia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	5998886	\N	\N	EFO	8	EFO	disease	Acheiropodia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:931	"Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." []	7048837	\N	\N	EFO	11	EFO	experimental factor	Acheiropodia
Orphanet:93100	\N	\N	"Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." []	Orphanet:93100	"Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." []	78442	\N	\N	EFO	0	EFO	Unilateral renal agenesis	Unilateral renal agenesis
Orphanet:357506	Orphanet:93100	\N	"" []	Orphanet:93100	"Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." []	223285	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Unilateral renal agenesis
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:93100	"Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." []	579792	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Unilateral renal agenesis
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:93100	"Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." []	1163532	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Unilateral renal agenesis
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:93100	"Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." []	1163533	\N	\N	EFO	3	EFO	Rare genetic renal disease	Unilateral renal agenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93100	"Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." []	2047257	\N	\N	EFO	4	EFO	genetic disorder	Unilateral renal agenesis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93100	"Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." []	2047258	\N	\N	EFO	4	EFO	genetic disorder	Unilateral renal agenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93100	"Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." []	3197261	\N	\N	EFO	5	EFO	disease	Unilateral renal agenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93100	"Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." []	4402721	\N	\N	EFO	6	EFO	disposition	Unilateral renal agenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93100	"Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." []	5418659	\N	\N	EFO	7	EFO	material property	Unilateral renal agenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93100	"Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." []	6153148	\N	\N	EFO	8	EFO	experimental factor	Unilateral renal agenesis
Orphanet:93101	\N	\N	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	Orphanet:93101	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	78443	\N	\N	EFO	0	EFO	Renal hypoplasia	Renal hypoplasia
Orphanet:357506	Orphanet:93101	\N	"" []	Orphanet:93101	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	223286	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Renal hypoplasia
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:93101	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	579793	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Renal hypoplasia
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:93101	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	1163534	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renal hypoplasia
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:93101	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	1163535	\N	\N	EFO	3	EFO	Rare genetic renal disease	Renal hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93101	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	2047259	\N	\N	EFO	4	EFO	genetic disorder	Renal hypoplasia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93101	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	2047260	\N	\N	EFO	4	EFO	genetic disorder	Renal hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93101	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	3197262	\N	\N	EFO	5	EFO	disease	Renal hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93101	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	4402722	\N	\N	EFO	6	EFO	disposition	Renal hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93101	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	5418660	\N	\N	EFO	7	EFO	material property	Renal hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93101	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	6153149	\N	\N	EFO	8	EFO	experimental factor	Renal hypoplasia
Orphanet:93108	\N	\N	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	Orphanet:93108	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	78444	\N	\N	EFO	0	EFO	Renal dysplasia	Renal dysplasia
Orphanet:357506	Orphanet:93108	\N	"" []	Orphanet:93108	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	223287	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Renal dysplasia
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:93108	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	579794	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Renal dysplasia
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:93108	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	1163536	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renal dysplasia
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:93108	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	1163537	\N	\N	EFO	3	EFO	Rare genetic renal disease	Renal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93108	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	2047261	\N	\N	EFO	4	EFO	genetic disorder	Renal dysplasia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93108	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	2047262	\N	\N	EFO	4	EFO	genetic disorder	Renal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93108	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	3197263	\N	\N	EFO	5	EFO	disease	Renal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93108	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	4402723	\N	\N	EFO	6	EFO	disposition	Renal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93108	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	5418661	\N	\N	EFO	7	EFO	material property	Renal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93108	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	6153150	\N	\N	EFO	8	EFO	experimental factor	Renal dysplasia
Orphanet:93110	\N	\N	"" []	Orphanet:93110	"" []	78445	\N	\N	EFO	0	EFO	Posterior urethral valve	Posterior urethral valve
Orphanet:357506	Orphanet:93110	\N	"" []	Orphanet:93110	"" []	223288	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Posterior urethral valve
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:93110	"" []	579795	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Posterior urethral valve
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:93110	"" []	1163538	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Posterior urethral valve
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:93110	"" []	1163539	\N	\N	EFO	3	EFO	Rare genetic renal disease	Posterior urethral valve
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93110	"" []	2047263	\N	\N	EFO	4	EFO	genetic disorder	Posterior urethral valve
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93110	"" []	2047264	\N	\N	EFO	4	EFO	genetic disorder	Posterior urethral valve
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93110	"" []	3197264	\N	\N	EFO	5	EFO	disease	Posterior urethral valve
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93110	"" []	4402724	\N	\N	EFO	6	EFO	disposition	Posterior urethral valve
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93110	"" []	5418662	\N	\N	EFO	7	EFO	material property	Posterior urethral valve
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93110	"" []	6153151	\N	\N	EFO	8	EFO	experimental factor	Posterior urethral valve
Orphanet:93111	\N	\N	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	78446	\N	\N	EFO	0	EFO	Renal cysts and diabetes syndrome	Renal cysts and diabetes syndrome
Orphanet:183625	Orphanet:93111	\N	"" []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	223289	\N	\N	EFO	1	EFO	Rare genetic diabetes mellitus	Renal cysts and diabetes syndrome
Orphanet:93547	Orphanet:93111	\N	"" []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	223290	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Renal cysts and diabetes syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	579796	\N	\N	EFO	2	EFO	diabetes mellitus	Renal cysts and diabetes syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	579797	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Renal cysts and diabetes syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	579798	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Renal cysts and diabetes syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	1163540	\N	\N	EFO	3	EFO	metabolic disease	Renal cysts and diabetes syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	1163541	\N	\N	EFO	3	EFO	genetic disorder	Renal cysts and diabetes syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	1163542	\N	\N	EFO	3	EFO	endocrine system disease	Renal cysts and diabetes syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	1163543	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renal cysts and diabetes syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	1163544	\N	\N	EFO	3	EFO	Rare genetic renal disease	Renal cysts and diabetes syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	2047265	\N	\N	EFO	4	EFO	disease	Renal cysts and diabetes syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	3197266	\N	\N	EFO	5	EFO	disease	Renal cysts and diabetes syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	2047267	\N	\N	EFO	4	EFO	disease	Renal cysts and diabetes syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	2047268	\N	\N	EFO	4	EFO	genetic disorder	Renal cysts and diabetes syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	2047269	\N	\N	EFO	4	EFO	genetic disorder	Renal cysts and diabetes syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	4134486	\N	\N	EFO	6	EFO	disposition	Renal cysts and diabetes syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	5183568	\N	\N	EFO	7	EFO	material property	Renal cysts and diabetes syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93111	"Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." []	5998887	\N	\N	EFO	8	EFO	experimental factor	Renal cysts and diabetes syndrome
Orphanet:93114	\N	\N	"" []	Orphanet:93114	"" []	78447	\N	\N	EFO	0	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Orphanet:102373	Orphanet:93114	\N	"" []	Orphanet:93114	"" []	223291	\N	\N	EFO	1	EFO	Primary glomerular disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Orphanet:90114	Orphanet:93114	\N	"" []	Orphanet:93114	"" []	223292	\N	\N	EFO	1	EFO	Autosomal dominant intermediate Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:93114	"" []	579799	\N	\N	EFO	2	EFO	Genetic glomerular disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Orphanet:140450	Orphanet:90114	\N	"" []	Orphanet:93114	"" []	579800	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Orphanet:166	Orphanet:90114	\N	"" []	Orphanet:93114	"" []	579801	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93114	"" []	1163545	\N	\N	EFO	3	EFO	Rare genetic renal disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:93114	"" []	1163546	\N	\N	EFO	3	EFO	motor neuron disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:93114	"" []	1163547	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:93114	"" []	1163548	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93114	"" []	2047270	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:93114	"" []	2047271	\N	\N	EFO	4	EFO	neurodegenerative disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:93114	"" []	2047272	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93114	"" []	4402728	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:93114	"" []	3197268	\N	\N	EFO	5	EFO	nervous system disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93114	"" []	3197269	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93114	"" []	5183569	\N	\N	EFO	7	EFO	disposition	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93114	"" []	4402727	\N	\N	EFO	6	EFO	disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93114	"" []	5998888	\N	\N	EFO	8	EFO	material property	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93114	"" []	6551887	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Orphanet:93160	\N	\N	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	78448	\N	\N	EFO	0	EFO	Hypocalcemic vitamin D-resistant rickets	Hypocalcemic vitamin D-resistant rickets
Orphanet:289103	Orphanet:93160	\N	"Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	223293	\N	\N	EFO	1	EFO	Hypocalcemic rickets	Hypocalcemic vitamin D-resistant rickets
Orphanet:289098	Orphanet:289103	\N	"" []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	579802	\N	\N	EFO	2	EFO	Disorders of vitamin D metabolism	Hypocalcemic vitamin D-resistant rickets
EFO:0005596	Orphanet:289098	\N	"An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	1163549	\N	\N	EFO	3	EFO	vitamin metabolic disorder	Hypocalcemic vitamin D-resistant rickets
Orphanet:183634	Orphanet:289098	\N	"" []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	1163550	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Hypocalcemic vitamin D-resistant rickets
Orphanet:93447	Orphanet:289098	\N	"" []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	1163551	\N	\N	EFO	3	EFO	Primary bone dysplasia with defective bone mineralization	Hypocalcemic vitamin D-resistant rickets
EFO:0000589	EFO:0005596	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	2047273	\N	\N	EFO	4	EFO	metabolic disease	Hypocalcemic vitamin D-resistant rickets
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	2047274	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hypocalcemic vitamin D-resistant rickets
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	2047275	\N	\N	EFO	4	EFO	Primary bone dysplasia	Hypocalcemic vitamin D-resistant rickets
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	3197270	\N	\N	EFO	5	EFO	disease	Hypocalcemic vitamin D-resistant rickets
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	3197271	\N	\N	EFO	5	EFO	genetic disorder	Hypocalcemic vitamin D-resistant rickets
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	3197272	\N	\N	EFO	5	EFO	endocrine system disease	Hypocalcemic vitamin D-resistant rickets
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	3197273	\N	\N	EFO	5	EFO	Rare genetic bone disease	Hypocalcemic vitamin D-resistant rickets
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	3197274	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Hypocalcemic vitamin D-resistant rickets
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	6471074	\N	\N	EFO	9	EFO	disposition	Hypocalcemic vitamin D-resistant rickets
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	6153155	\N	\N	EFO	8	EFO	disease	Hypocalcemic vitamin D-resistant rickets
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	4402731	\N	\N	EFO	6	EFO	disease	Hypocalcemic vitamin D-resistant rickets
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	4402732	\N	\N	EFO	6	EFO	genetic disorder	Hypocalcemic vitamin D-resistant rickets
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	4402733	\N	\N	EFO	6	EFO	bone disease	Hypocalcemic vitamin D-resistant rickets
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	4402734	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Hypocalcemic vitamin D-resistant rickets
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	6808218	\N	\N	EFO	10	EFO	material property	Hypocalcemic vitamin D-resistant rickets
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	5418668	\N	\N	EFO	7	EFO	skeletal system disease	Hypocalcemic vitamin D-resistant rickets
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	5418669	\N	\N	EFO	7	EFO	genetic disorder	Hypocalcemic vitamin D-resistant rickets
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	7048838	\N	\N	EFO	11	EFO	experimental factor	Hypocalcemic vitamin D-resistant rickets
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93160	"Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." []	6153154	\N	\N	EFO	8	EFO	disease	Hypocalcemic vitamin D-resistant rickets
Orphanet:93172	\N	\N	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	Orphanet:93172	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	78449	\N	\N	EFO	0	EFO	Unilateral renal dysplasia	Unilateral renal dysplasia
Orphanet:93108	Orphanet:93172	\N	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	Orphanet:93172	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	223294	\N	\N	EFO	1	EFO	Renal dysplasia	Unilateral renal dysplasia
Orphanet:357506	Orphanet:93108	\N	"" []	Orphanet:93172	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	579803	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Unilateral renal dysplasia
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:93172	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	1163552	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Unilateral renal dysplasia
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:93172	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	2047276	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Unilateral renal dysplasia
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:93172	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	2047277	\N	\N	EFO	4	EFO	Rare genetic renal disease	Unilateral renal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93172	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	3197275	\N	\N	EFO	5	EFO	genetic disorder	Unilateral renal dysplasia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93172	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	3197276	\N	\N	EFO	5	EFO	genetic disorder	Unilateral renal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93172	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	4402735	\N	\N	EFO	6	EFO	disease	Unilateral renal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93172	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	5418670	\N	\N	EFO	7	EFO	disposition	Unilateral renal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93172	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	6153156	\N	\N	EFO	8	EFO	material property	Unilateral renal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93172	"Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	6634280	\N	\N	EFO	9	EFO	experimental factor	Unilateral renal dysplasia
Orphanet:93173	\N	\N	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	Orphanet:93173	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	78450	\N	\N	EFO	0	EFO	Bilateral renal dysplasia	Bilateral renal dysplasia
Orphanet:93108	Orphanet:93173	\N	"Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." []	Orphanet:93173	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	223295	\N	\N	EFO	1	EFO	Renal dysplasia	Bilateral renal dysplasia
Orphanet:357506	Orphanet:93108	\N	"" []	Orphanet:93173	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	579804	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Bilateral renal dysplasia
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:93173	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	1163553	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Bilateral renal dysplasia
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:93173	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	2047278	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Bilateral renal dysplasia
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:93173	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	2047279	\N	\N	EFO	4	EFO	Rare genetic renal disease	Bilateral renal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93173	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	3197277	\N	\N	EFO	5	EFO	genetic disorder	Bilateral renal dysplasia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93173	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	3197278	\N	\N	EFO	5	EFO	genetic disorder	Bilateral renal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93173	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	4402736	\N	\N	EFO	6	EFO	disease	Bilateral renal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93173	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	5418671	\N	\N	EFO	7	EFO	disposition	Bilateral renal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93173	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	6153157	\N	\N	EFO	8	EFO	material property	Bilateral renal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93173	"Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." []	6634281	\N	\N	EFO	9	EFO	experimental factor	Bilateral renal dysplasia
Orphanet:93178	\N	\N	"" []	Orphanet:93178	"" []	78451	\N	\N	EFO	0	EFO	Partial prune belly syndrome	Partial prune belly syndrome
Orphanet:2970	Orphanet:93178	\N	"" []	Orphanet:93178	"" []	223296	\N	\N	EFO	1	EFO	Prune belly syndrome	Partial prune belly syndrome
Orphanet:165707	Orphanet:2970	\N	"" []	Orphanet:93178	"" []	579805	\N	\N	EFO	2	EFO	Syndromic urogenital tract malformation	Partial prune belly syndrome
Orphanet:357506	Orphanet:2970	\N	"" []	Orphanet:93178	"" []	579806	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Partial prune belly syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:93178	"" []	1163554	\N	\N	EFO	3	EFO	Genetic urogenital tract malformation	Partial prune belly syndrome
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:93178	"" []	1163555	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Partial prune belly syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:93178	"" []	2047280	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Partial prune belly syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:93178	"" []	2047281	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Partial prune belly syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:93178	"" []	2047282	\N	\N	EFO	4	EFO	Rare genetic renal disease	Partial prune belly syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93178	"" []	3197279	\N	\N	EFO	5	EFO	genetic disorder	Partial prune belly syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93178	"" []	3197280	\N	\N	EFO	5	EFO	genetic disorder	Partial prune belly syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93178	"" []	3197281	\N	\N	EFO	5	EFO	genetic disorder	Partial prune belly syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93178	"" []	4402737	\N	\N	EFO	6	EFO	disease	Partial prune belly syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93178	"" []	5418672	\N	\N	EFO	7	EFO	disposition	Partial prune belly syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93178	"" []	6153158	\N	\N	EFO	8	EFO	material property	Partial prune belly syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93178	"" []	6634282	\N	\N	EFO	9	EFO	experimental factor	Partial prune belly syndrome
Orphanet:932	\N	\N	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	78452	\N	\N	EFO	0	EFO	Achondrogenesis	Achondrogenesis
Orphanet:93434	Orphanet:932	\N	"" []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	223297	\N	\N	EFO	1	EFO	Spondylodysplastic dysplasia	Achondrogenesis
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	579807	\N	\N	EFO	2	EFO	Primary bone dysplasia	Achondrogenesis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	1163556	\N	\N	EFO	3	EFO	Rare genetic bone disease	Achondrogenesis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	1163557	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Achondrogenesis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	2047283	\N	\N	EFO	4	EFO	genetic disorder	Achondrogenesis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	2047284	\N	\N	EFO	4	EFO	bone disease	Achondrogenesis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	2047285	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Achondrogenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	4402740	\N	\N	EFO	6	EFO	disease	Achondrogenesis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	3197283	\N	\N	EFO	5	EFO	skeletal system disease	Achondrogenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	3197284	\N	\N	EFO	5	EFO	genetic disorder	Achondrogenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	5183570	\N	\N	EFO	7	EFO	disposition	Achondrogenesis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	4402739	\N	\N	EFO	6	EFO	disease	Achondrogenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	5998891	\N	\N	EFO	8	EFO	material property	Achondrogenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:932	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	6551889	\N	\N	EFO	9	EFO	experimental factor	Achondrogenesis
Orphanet:93213	\N	\N	"" []	Orphanet:93213	"" []	78453	\N	\N	EFO	0	EFO	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Orphanet:656	Orphanet:93213	\N	"" []	Orphanet:93213	"" []	223298	\N	\N	EFO	1	EFO	Familial idiopathic steroid-resistant nephrotic syndrome	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Orphanet:102373	Orphanet:656	\N	"" []	Orphanet:93213	"" []	579808	\N	\N	EFO	2	EFO	Primary glomerular disease	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:93213	"" []	1163558	\N	\N	EFO	3	EFO	Genetic glomerular disease	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93213	"" []	2047286	\N	\N	EFO	4	EFO	Rare genetic renal disease	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93213	"" []	3197285	\N	\N	EFO	5	EFO	genetic disorder	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93213	"" []	4402741	\N	\N	EFO	6	EFO	disease	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93213	"" []	5418674	\N	\N	EFO	7	EFO	disposition	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93213	"" []	6153160	\N	\N	EFO	8	EFO	material property	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93213	"" []	6634283	\N	\N	EFO	9	EFO	experimental factor	Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Orphanet:93214	\N	\N	"" []	Orphanet:93214	"" []	78454	\N	\N	EFO	0	EFO	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Orphanet:656	Orphanet:93214	\N	"" []	Orphanet:93214	"" []	223299	\N	\N	EFO	1	EFO	Familial idiopathic steroid-resistant nephrotic syndrome	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Orphanet:102373	Orphanet:656	\N	"" []	Orphanet:93214	"" []	579809	\N	\N	EFO	2	EFO	Primary glomerular disease	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:93214	"" []	1163559	\N	\N	EFO	3	EFO	Genetic glomerular disease	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93214	"" []	2047287	\N	\N	EFO	4	EFO	Rare genetic renal disease	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93214	"" []	3197286	\N	\N	EFO	5	EFO	genetic disorder	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93214	"" []	4402742	\N	\N	EFO	6	EFO	disease	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93214	"" []	5418675	\N	\N	EFO	7	EFO	disposition	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93214	"" []	6153161	\N	\N	EFO	8	EFO	material property	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93214	"" []	6634284	\N	\N	EFO	9	EFO	experimental factor	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Orphanet:93216	\N	\N	"" []	Orphanet:93216	"" []	78455	\N	\N	EFO	0	EFO	Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes	Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Orphanet:656	Orphanet:93216	\N	"" []	Orphanet:93216	"" []	223300	\N	\N	EFO	1	EFO	Familial idiopathic steroid-resistant nephrotic syndrome	Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Orphanet:102373	Orphanet:656	\N	"" []	Orphanet:93216	"" []	579810	\N	\N	EFO	2	EFO	Primary glomerular disease	Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:93216	"" []	1163560	\N	\N	EFO	3	EFO	Genetic glomerular disease	Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93216	"" []	2047288	\N	\N	EFO	4	EFO	Rare genetic renal disease	Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93216	"" []	3197287	\N	\N	EFO	5	EFO	genetic disorder	Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93216	"" []	4402743	\N	\N	EFO	6	EFO	disease	Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93216	"" []	5418676	\N	\N	EFO	7	EFO	disposition	Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93216	"" []	6153162	\N	\N	EFO	8	EFO	material property	Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93216	"" []	6634285	\N	\N	EFO	9	EFO	experimental factor	Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Orphanet:93217	\N	\N	"" []	Orphanet:93217	"" []	78456	\N	\N	EFO	0	EFO	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Orphanet:656	Orphanet:93217	\N	"" []	Orphanet:93217	"" []	223301	\N	\N	EFO	1	EFO	Familial idiopathic steroid-resistant nephrotic syndrome	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Orphanet:102373	Orphanet:656	\N	"" []	Orphanet:93217	"" []	579811	\N	\N	EFO	2	EFO	Primary glomerular disease	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:93217	"" []	1163561	\N	\N	EFO	3	EFO	Genetic glomerular disease	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93217	"" []	2047289	\N	\N	EFO	4	EFO	Rare genetic renal disease	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93217	"" []	3197288	\N	\N	EFO	5	EFO	genetic disorder	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93217	"" []	4402744	\N	\N	EFO	6	EFO	disease	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93217	"" []	5418677	\N	\N	EFO	7	EFO	disposition	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93217	"" []	6153163	\N	\N	EFO	8	EFO	material property	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93217	"" []	6634286	\N	\N	EFO	9	EFO	experimental factor	Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Orphanet:93218	\N	\N	"" []	Orphanet:93218	"" []	78457	\N	\N	EFO	0	EFO	Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis	Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Orphanet:84271	Orphanet:93218	\N	"" []	Orphanet:93218	"" []	223302	\N	\N	EFO	1	EFO	Sporadic idiopathic steroid-resistant nephrotic syndrome	Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Orphanet:102373	Orphanet:84271	\N	"" []	Orphanet:93218	"" []	579812	\N	\N	EFO	2	EFO	Primary glomerular disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:93218	"" []	1163562	\N	\N	EFO	3	EFO	Genetic glomerular disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93218	"" []	2047290	\N	\N	EFO	4	EFO	Rare genetic renal disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93218	"" []	3197289	\N	\N	EFO	5	EFO	genetic disorder	Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93218	"" []	4402745	\N	\N	EFO	6	EFO	disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93218	"" []	5418678	\N	\N	EFO	7	EFO	disposition	Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93218	"" []	6153164	\N	\N	EFO	8	EFO	material property	Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93218	"" []	6634287	\N	\N	EFO	9	EFO	experimental factor	Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Orphanet:93220	\N	\N	"" []	Orphanet:93220	"" []	78458	\N	\N	EFO	0	EFO	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Orphanet:84271	Orphanet:93220	\N	"" []	Orphanet:93220	"" []	223303	\N	\N	EFO	1	EFO	Sporadic idiopathic steroid-resistant nephrotic syndrome	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Orphanet:102373	Orphanet:84271	\N	"" []	Orphanet:93220	"" []	579813	\N	\N	EFO	2	EFO	Primary glomerular disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:93220	"" []	1163563	\N	\N	EFO	3	EFO	Genetic glomerular disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93220	"" []	2047291	\N	\N	EFO	4	EFO	Rare genetic renal disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93220	"" []	3197290	\N	\N	EFO	5	EFO	genetic disorder	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93220	"" []	4402746	\N	\N	EFO	6	EFO	disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93220	"" []	5418679	\N	\N	EFO	7	EFO	disposition	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93220	"" []	6153165	\N	\N	EFO	8	EFO	material property	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93220	"" []	6634288	\N	\N	EFO	9	EFO	experimental factor	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Orphanet:93221	\N	\N	"" []	Orphanet:93221	"" []	78459	\N	\N	EFO	0	EFO	Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes	Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
Orphanet:84271	Orphanet:93221	\N	"" []	Orphanet:93221	"" []	223304	\N	\N	EFO	1	EFO	Sporadic idiopathic steroid-resistant nephrotic syndrome	Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
Orphanet:102373	Orphanet:84271	\N	"" []	Orphanet:93221	"" []	579814	\N	\N	EFO	2	EFO	Primary glomerular disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:93221	"" []	1163564	\N	\N	EFO	3	EFO	Genetic glomerular disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93221	"" []	2047292	\N	\N	EFO	4	EFO	Rare genetic renal disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93221	"" []	3197291	\N	\N	EFO	5	EFO	genetic disorder	Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93221	"" []	4402747	\N	\N	EFO	6	EFO	disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93221	"" []	5418680	\N	\N	EFO	7	EFO	disposition	Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93221	"" []	6153166	\N	\N	EFO	8	EFO	material property	Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93221	"" []	6634289	\N	\N	EFO	9	EFO	experimental factor	Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
Orphanet:93222	\N	\N	"" []	Orphanet:93222	"" []	78460	\N	\N	EFO	0	EFO	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Orphanet:84271	Orphanet:93222	\N	"" []	Orphanet:93222	"" []	223305	\N	\N	EFO	1	EFO	Sporadic idiopathic steroid-resistant nephrotic syndrome	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Orphanet:102373	Orphanet:84271	\N	"" []	Orphanet:93222	"" []	579815	\N	\N	EFO	2	EFO	Primary glomerular disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:93222	"" []	1163565	\N	\N	EFO	3	EFO	Genetic glomerular disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93222	"" []	2047293	\N	\N	EFO	4	EFO	Rare genetic renal disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93222	"" []	3197292	\N	\N	EFO	5	EFO	genetic disorder	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93222	"" []	4402748	\N	\N	EFO	6	EFO	disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93222	"" []	5418681	\N	\N	EFO	7	EFO	disposition	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93222	"" []	6153167	\N	\N	EFO	8	EFO	material property	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93222	"" []	6634290	\N	\N	EFO	9	EFO	experimental factor	Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Orphanet:93256	\N	\N	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	78461	\N	\N	EFO	0	EFO	Fragile X-associated tremor/ataxia syndrome	Fragile X-associated tremor/ataxia syndrome
Orphanet:247765	Orphanet:93256	\N	"" []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	223306	\N	\N	EFO	1	EFO	X-linked cerebellar ataxia	Fragile X-associated tremor/ataxia syndrome
Orphanet:307061	Orphanet:93256	\N	"" []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	223307	\N	\N	EFO	1	EFO	Rare genetic tremor disorder	Fragile X-associated tremor/ataxia syndrome
Orphanet:183518	Orphanet:247765	\N	"" []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	579816	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Fragile X-associated tremor/ataxia syndrome
Orphanet:183521	Orphanet:307061	\N	"" []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	579817	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Fragile X-associated tremor/ataxia syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	1163566	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Fragile X-associated tremor/ataxia syndrome
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	1163567	\N	\N	EFO	3	EFO	movement disorder	Fragile X-associated tremor/ataxia syndrome
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	1163568	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Fragile X-associated tremor/ataxia syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	2047294	\N	\N	EFO	4	EFO	genetic disorder	Fragile X-associated tremor/ataxia syndrome
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	2047295	\N	\N	EFO	4	EFO	nervous system disease	Fragile X-associated tremor/ataxia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	3197293	\N	\N	EFO	5	EFO	disease	Fragile X-associated tremor/ataxia syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	3197294	\N	\N	EFO	5	EFO	disease	Fragile X-associated tremor/ataxia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	4402749	\N	\N	EFO	6	EFO	disposition	Fragile X-associated tremor/ataxia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	5418682	\N	\N	EFO	7	EFO	material property	Fragile X-associated tremor/ataxia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93256	"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." []	6153168	\N	\N	EFO	8	EFO	experimental factor	Fragile X-associated tremor/ataxia syndrome
Orphanet:93258	\N	\N	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	78462	\N	\N	EFO	0	EFO	Pfeiffer syndrome type 1	Pfeiffer syndrome type 1
Orphanet:710	Orphanet:93258	\N	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	223308	\N	\N	EFO	1	EFO	Pfeiffer syndrome	Pfeiffer syndrome type 1
Orphanet:946	Orphanet:710	\N	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	579818	\N	\N	EFO	2	EFO	Acrocephalosyndactyly	Pfeiffer syndrome type 1
Orphanet:98684	Orphanet:710	\N	"" []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	579819	\N	\N	EFO	2	EFO	Craniostenosis associated with a strabismus	Pfeiffer syndrome type 1
Orphanet:139393	Orphanet:946	\N	"" []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	1163569	\N	\N	EFO	3	EFO	Syndromic craniosynostosis	Pfeiffer syndrome type 1
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	1163570	\N	\N	EFO	3	EFO	Syndrome with a symptomatic strabismus	Pfeiffer syndrome type 1
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	2047296	\N	\N	EFO	4	EFO	Craniosynostosis	Pfeiffer syndrome type 1
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	2047297	\N	\N	EFO	4	EFO	Rare strabismus and restriction syndrome	Pfeiffer syndrome type 1
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	3197295	\N	\N	EFO	5	EFO	Genetic cranial malformation	Pfeiffer syndrome type 1
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	3197296	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Pfeiffer syndrome type 1
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	3197297	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Pfeiffer syndrome type 1
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	4402750	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Pfeiffer syndrome type 1
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	4402751	\N	\N	EFO	6	EFO	Rare genetic bone disease	Pfeiffer syndrome type 1
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	4402752	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Pfeiffer syndrome type 1
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	4402753	\N	\N	EFO	6	EFO	Rare genetic eye disease	Pfeiffer syndrome type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	6153171	\N	\N	EFO	8	EFO	genetic disorder	Pfeiffer syndrome type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	5418684	\N	\N	EFO	7	EFO	genetic disorder	Pfeiffer syndrome type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	5418685	\N	\N	EFO	7	EFO	bone disease	Pfeiffer syndrome type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	5418686	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Pfeiffer syndrome type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	5418687	\N	\N	EFO	7	EFO	genetic disorder	Pfeiffer syndrome type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	5418688	\N	\N	EFO	7	EFO	eye disease	Pfeiffer syndrome type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	6551890	\N	\N	EFO	9	EFO	disease	Pfeiffer syndrome type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	6153170	\N	\N	EFO	8	EFO	skeletal system disease	Pfeiffer syndrome type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	6153172	\N	\N	EFO	8	EFO	disease	Pfeiffer syndrome type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	6889560	\N	\N	EFO	10	EFO	disposition	Pfeiffer syndrome type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	6634292	\N	\N	EFO	9	EFO	disease	Pfeiffer syndrome type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	7086064	\N	\N	EFO	11	EFO	material property	Pfeiffer syndrome type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93258	"Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." []	7204419	\N	\N	EFO	12	EFO	experimental factor	Pfeiffer syndrome type 1
Orphanet:93259	\N	\N	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	78463	\N	\N	EFO	0	EFO	Pfeiffer syndrome type 2	Pfeiffer syndrome type 2
Orphanet:710	Orphanet:93259	\N	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	223309	\N	\N	EFO	1	EFO	Pfeiffer syndrome	Pfeiffer syndrome type 2
Orphanet:946	Orphanet:710	\N	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	579820	\N	\N	EFO	2	EFO	Acrocephalosyndactyly	Pfeiffer syndrome type 2
Orphanet:98684	Orphanet:710	\N	"" []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	579821	\N	\N	EFO	2	EFO	Craniostenosis associated with a strabismus	Pfeiffer syndrome type 2
Orphanet:139393	Orphanet:946	\N	"" []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	1163571	\N	\N	EFO	3	EFO	Syndromic craniosynostosis	Pfeiffer syndrome type 2
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	1163572	\N	\N	EFO	3	EFO	Syndrome with a symptomatic strabismus	Pfeiffer syndrome type 2
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	2047298	\N	\N	EFO	4	EFO	Craniosynostosis	Pfeiffer syndrome type 2
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	2047299	\N	\N	EFO	4	EFO	Rare strabismus and restriction syndrome	Pfeiffer syndrome type 2
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	3197298	\N	\N	EFO	5	EFO	Genetic cranial malformation	Pfeiffer syndrome type 2
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	3197299	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Pfeiffer syndrome type 2
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	3197300	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Pfeiffer syndrome type 2
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	4402754	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Pfeiffer syndrome type 2
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	4402755	\N	\N	EFO	6	EFO	Rare genetic bone disease	Pfeiffer syndrome type 2
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	4402756	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Pfeiffer syndrome type 2
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	4402757	\N	\N	EFO	6	EFO	Rare genetic eye disease	Pfeiffer syndrome type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	6153175	\N	\N	EFO	8	EFO	genetic disorder	Pfeiffer syndrome type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	5418690	\N	\N	EFO	7	EFO	genetic disorder	Pfeiffer syndrome type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	5418691	\N	\N	EFO	7	EFO	bone disease	Pfeiffer syndrome type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	5418692	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Pfeiffer syndrome type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	5418693	\N	\N	EFO	7	EFO	genetic disorder	Pfeiffer syndrome type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	5418694	\N	\N	EFO	7	EFO	eye disease	Pfeiffer syndrome type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	6551891	\N	\N	EFO	9	EFO	disease	Pfeiffer syndrome type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	6153174	\N	\N	EFO	8	EFO	skeletal system disease	Pfeiffer syndrome type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	6153176	\N	\N	EFO	8	EFO	disease	Pfeiffer syndrome type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	6889561	\N	\N	EFO	10	EFO	disposition	Pfeiffer syndrome type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	6634294	\N	\N	EFO	9	EFO	disease	Pfeiffer syndrome type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	7086065	\N	\N	EFO	11	EFO	material property	Pfeiffer syndrome type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93259	"Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." []	7204420	\N	\N	EFO	12	EFO	experimental factor	Pfeiffer syndrome type 2
Orphanet:93260	\N	\N	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	78464	\N	\N	EFO	0	EFO	Pfeiffer syndrome type 3	Pfeiffer syndrome type 3
Orphanet:710	Orphanet:93260	\N	"Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	223310	\N	\N	EFO	1	EFO	Pfeiffer syndrome	Pfeiffer syndrome type 3
Orphanet:946	Orphanet:710	\N	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	579822	\N	\N	EFO	2	EFO	Acrocephalosyndactyly	Pfeiffer syndrome type 3
Orphanet:98684	Orphanet:710	\N	"" []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	579823	\N	\N	EFO	2	EFO	Craniostenosis associated with a strabismus	Pfeiffer syndrome type 3
Orphanet:139393	Orphanet:946	\N	"" []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	1163573	\N	\N	EFO	3	EFO	Syndromic craniosynostosis	Pfeiffer syndrome type 3
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	1163574	\N	\N	EFO	3	EFO	Syndrome with a symptomatic strabismus	Pfeiffer syndrome type 3
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	2047300	\N	\N	EFO	4	EFO	Craniosynostosis	Pfeiffer syndrome type 3
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	2047301	\N	\N	EFO	4	EFO	Rare strabismus and restriction syndrome	Pfeiffer syndrome type 3
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	3197301	\N	\N	EFO	5	EFO	Genetic cranial malformation	Pfeiffer syndrome type 3
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	3197302	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Pfeiffer syndrome type 3
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	3197303	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Pfeiffer syndrome type 3
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	4402758	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Pfeiffer syndrome type 3
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	4402759	\N	\N	EFO	6	EFO	Rare genetic bone disease	Pfeiffer syndrome type 3
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	4402760	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Pfeiffer syndrome type 3
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	4402761	\N	\N	EFO	6	EFO	Rare genetic eye disease	Pfeiffer syndrome type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	6153179	\N	\N	EFO	8	EFO	genetic disorder	Pfeiffer syndrome type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	5418696	\N	\N	EFO	7	EFO	genetic disorder	Pfeiffer syndrome type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	5418697	\N	\N	EFO	7	EFO	bone disease	Pfeiffer syndrome type 3
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	5418698	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Pfeiffer syndrome type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	5418699	\N	\N	EFO	7	EFO	genetic disorder	Pfeiffer syndrome type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	5418700	\N	\N	EFO	7	EFO	eye disease	Pfeiffer syndrome type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	6551892	\N	\N	EFO	9	EFO	disease	Pfeiffer syndrome type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	6153178	\N	\N	EFO	8	EFO	skeletal system disease	Pfeiffer syndrome type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	6153180	\N	\N	EFO	8	EFO	disease	Pfeiffer syndrome type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	6889562	\N	\N	EFO	10	EFO	disposition	Pfeiffer syndrome type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	6634296	\N	\N	EFO	9	EFO	disease	Pfeiffer syndrome type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	7086066	\N	\N	EFO	11	EFO	material property	Pfeiffer syndrome type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93260	"Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." []	7204421	\N	\N	EFO	12	EFO	experimental factor	Pfeiffer syndrome type 3
Orphanet:93262	\N	\N	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	78465	\N	\N	EFO	0	EFO	Crouzon syndrome - acanthosis nigricans	Crouzon syndrome - acanthosis nigricans
Orphanet:139393	Orphanet:93262	\N	"" []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	223311	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Crouzon syndrome - acanthosis nigricans
Orphanet:98684	Orphanet:93262	\N	"" []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	223312	\N	\N	EFO	1	EFO	Craniostenosis associated with a strabismus	Crouzon syndrome - acanthosis nigricans
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	579824	\N	\N	EFO	2	EFO	Craniosynostosis	Crouzon syndrome - acanthosis nigricans
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	579825	\N	\N	EFO	2	EFO	Syndrome with a symptomatic strabismus	Crouzon syndrome - acanthosis nigricans
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	1163575	\N	\N	EFO	3	EFO	Genetic cranial malformation	Crouzon syndrome - acanthosis nigricans
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	1163576	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Crouzon syndrome - acanthosis nigricans
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	1163577	\N	\N	EFO	3	EFO	Rare strabismus and restriction syndrome	Crouzon syndrome - acanthosis nigricans
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	2047302	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Crouzon syndrome - acanthosis nigricans
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	2047303	\N	\N	EFO	4	EFO	Rare genetic bone disease	Crouzon syndrome - acanthosis nigricans
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	2047304	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Crouzon syndrome - acanthosis nigricans
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	2047305	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Crouzon syndrome - acanthosis nigricans
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	4402764	\N	\N	EFO	6	EFO	genetic disorder	Crouzon syndrome - acanthosis nigricans
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	3197305	\N	\N	EFO	5	EFO	genetic disorder	Crouzon syndrome - acanthosis nigricans
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	3197306	\N	\N	EFO	5	EFO	bone disease	Crouzon syndrome - acanthosis nigricans
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	3197307	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Crouzon syndrome - acanthosis nigricans
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	3197308	\N	\N	EFO	5	EFO	Rare genetic eye disease	Crouzon syndrome - acanthosis nigricans
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	5183571	\N	\N	EFO	7	EFO	disease	Crouzon syndrome - acanthosis nigricans
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	4402763	\N	\N	EFO	6	EFO	skeletal system disease	Crouzon syndrome - acanthosis nigricans
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	4402765	\N	\N	EFO	6	EFO	genetic disorder	Crouzon syndrome - acanthosis nigricans
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	4402766	\N	\N	EFO	6	EFO	eye disease	Crouzon syndrome - acanthosis nigricans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	5998892	\N	\N	EFO	8	EFO	disposition	Crouzon syndrome - acanthosis nigricans
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	5418702	\N	\N	EFO	7	EFO	disease	Crouzon syndrome - acanthosis nigricans
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	5418703	\N	\N	EFO	7	EFO	disease	Crouzon syndrome - acanthosis nigricans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	6551893	\N	\N	EFO	9	EFO	material property	Crouzon syndrome - acanthosis nigricans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93262	"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." []	6889563	\N	\N	EFO	10	EFO	experimental factor	Crouzon syndrome - acanthosis nigricans
Orphanet:93267	\N	\N	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	78466	\N	\N	EFO	0	EFO	Cloverleaf skull - multiple congenital anomalies	Cloverleaf skull - multiple congenital anomalies
Orphanet:139393	Orphanet:93267	\N	"" []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	223313	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Cloverleaf skull - multiple congenital anomalies
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	579826	\N	\N	EFO	2	EFO	Craniosynostosis	Cloverleaf skull - multiple congenital anomalies
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	1163578	\N	\N	EFO	3	EFO	Genetic cranial malformation	Cloverleaf skull - multiple congenital anomalies
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	1163579	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Cloverleaf skull - multiple congenital anomalies
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	2047306	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cloverleaf skull - multiple congenital anomalies
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	2047307	\N	\N	EFO	4	EFO	Rare genetic bone disease	Cloverleaf skull - multiple congenital anomalies
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	2047308	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Cloverleaf skull - multiple congenital anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	4402769	\N	\N	EFO	6	EFO	genetic disorder	Cloverleaf skull - multiple congenital anomalies
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	3197310	\N	\N	EFO	5	EFO	genetic disorder	Cloverleaf skull - multiple congenital anomalies
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	3197311	\N	\N	EFO	5	EFO	bone disease	Cloverleaf skull - multiple congenital anomalies
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	3197312	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Cloverleaf skull - multiple congenital anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	5183572	\N	\N	EFO	7	EFO	disease	Cloverleaf skull - multiple congenital anomalies
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	4402768	\N	\N	EFO	6	EFO	skeletal system disease	Cloverleaf skull - multiple congenital anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	5998893	\N	\N	EFO	8	EFO	disposition	Cloverleaf skull - multiple congenital anomalies
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	5418705	\N	\N	EFO	7	EFO	disease	Cloverleaf skull - multiple congenital anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	6551894	\N	\N	EFO	9	EFO	material property	Cloverleaf skull - multiple congenital anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93267	"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." []	6889564	\N	\N	EFO	10	EFO	experimental factor	Cloverleaf skull - multiple congenital anomalies
Orphanet:93268	\N	\N	"" []	Orphanet:93268	"" []	78467	\N	\N	EFO	0	EFO	Short rib-polydactyly syndrome, Beemer-Langer type	Short rib-polydactyly syndrome, Beemer-Langer type
Orphanet:1505	Orphanet:93268	\N	"" []	Orphanet:93268	"" []	223314	\N	\N	EFO	1	EFO	Short rib-polydactyly syndrome	Short rib-polydactyly syndrome, Beemer-Langer type
Orphanet:93426	Orphanet:1505	\N	"" []	Orphanet:93268	"" []	579827	\N	\N	EFO	2	EFO	Short rib dysplasia	Short rib-polydactyly syndrome, Beemer-Langer type
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:93268	"" []	1163580	\N	\N	EFO	3	EFO	Primary bone dysplasia	Short rib-polydactyly syndrome, Beemer-Langer type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93268	"" []	2047309	\N	\N	EFO	4	EFO	Rare genetic bone disease	Short rib-polydactyly syndrome, Beemer-Langer type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93268	"" []	2047310	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Short rib-polydactyly syndrome, Beemer-Langer type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93268	"" []	3197313	\N	\N	EFO	5	EFO	genetic disorder	Short rib-polydactyly syndrome, Beemer-Langer type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93268	"" []	3197314	\N	\N	EFO	5	EFO	bone disease	Short rib-polydactyly syndrome, Beemer-Langer type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93268	"" []	3197315	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Short rib-polydactyly syndrome, Beemer-Langer type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93268	"" []	5418708	\N	\N	EFO	7	EFO	disease	Short rib-polydactyly syndrome, Beemer-Langer type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93268	"" []	4402771	\N	\N	EFO	6	EFO	skeletal system disease	Short rib-polydactyly syndrome, Beemer-Langer type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93268	"" []	4402772	\N	\N	EFO	6	EFO	genetic disorder	Short rib-polydactyly syndrome, Beemer-Langer type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93268	"" []	5998894	\N	\N	EFO	8	EFO	disposition	Short rib-polydactyly syndrome, Beemer-Langer type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93268	"" []	5418707	\N	\N	EFO	7	EFO	disease	Short rib-polydactyly syndrome, Beemer-Langer type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93268	"" []	6551895	\N	\N	EFO	9	EFO	material property	Short rib-polydactyly syndrome, Beemer-Langer type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93268	"" []	6889565	\N	\N	EFO	10	EFO	experimental factor	Short rib-polydactyly syndrome, Beemer-Langer type
Orphanet:93269	\N	\N	"" []	Orphanet:93269	"" []	78468	\N	\N	EFO	0	EFO	Short rib-polydactyly syndrome, Majewski type	Short rib-polydactyly syndrome, Majewski type
Orphanet:1505	Orphanet:93269	\N	"" []	Orphanet:93269	"" []	223315	\N	\N	EFO	1	EFO	Short rib-polydactyly syndrome	Short rib-polydactyly syndrome, Majewski type
Orphanet:93426	Orphanet:1505	\N	"" []	Orphanet:93269	"" []	579828	\N	\N	EFO	2	EFO	Short rib dysplasia	Short rib-polydactyly syndrome, Majewski type
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:93269	"" []	1163581	\N	\N	EFO	3	EFO	Primary bone dysplasia	Short rib-polydactyly syndrome, Majewski type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93269	"" []	2047311	\N	\N	EFO	4	EFO	Rare genetic bone disease	Short rib-polydactyly syndrome, Majewski type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93269	"" []	2047312	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Short rib-polydactyly syndrome, Majewski type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93269	"" []	3197316	\N	\N	EFO	5	EFO	genetic disorder	Short rib-polydactyly syndrome, Majewski type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93269	"" []	3197317	\N	\N	EFO	5	EFO	bone disease	Short rib-polydactyly syndrome, Majewski type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93269	"" []	3197318	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Short rib-polydactyly syndrome, Majewski type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93269	"" []	5418711	\N	\N	EFO	7	EFO	disease	Short rib-polydactyly syndrome, Majewski type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93269	"" []	4402774	\N	\N	EFO	6	EFO	skeletal system disease	Short rib-polydactyly syndrome, Majewski type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93269	"" []	4402775	\N	\N	EFO	6	EFO	genetic disorder	Short rib-polydactyly syndrome, Majewski type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93269	"" []	5998895	\N	\N	EFO	8	EFO	disposition	Short rib-polydactyly syndrome, Majewski type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93269	"" []	5418710	\N	\N	EFO	7	EFO	disease	Short rib-polydactyly syndrome, Majewski type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93269	"" []	6551896	\N	\N	EFO	9	EFO	material property	Short rib-polydactyly syndrome, Majewski type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93269	"" []	6889566	\N	\N	EFO	10	EFO	experimental factor	Short rib-polydactyly syndrome, Majewski type
Orphanet:93270	\N	\N	"" []	Orphanet:93270	"" []	78469	\N	\N	EFO	0	EFO	Short rib-polydactyly syndrome, Saldino-Noonan type	Short rib-polydactyly syndrome, Saldino-Noonan type
Orphanet:1505	Orphanet:93270	\N	"" []	Orphanet:93270	"" []	223316	\N	\N	EFO	1	EFO	Short rib-polydactyly syndrome	Short rib-polydactyly syndrome, Saldino-Noonan type
Orphanet:93426	Orphanet:1505	\N	"" []	Orphanet:93270	"" []	579829	\N	\N	EFO	2	EFO	Short rib dysplasia	Short rib-polydactyly syndrome, Saldino-Noonan type
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:93270	"" []	1163582	\N	\N	EFO	3	EFO	Primary bone dysplasia	Short rib-polydactyly syndrome, Saldino-Noonan type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93270	"" []	2047313	\N	\N	EFO	4	EFO	Rare genetic bone disease	Short rib-polydactyly syndrome, Saldino-Noonan type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93270	"" []	2047314	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Short rib-polydactyly syndrome, Saldino-Noonan type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93270	"" []	3197319	\N	\N	EFO	5	EFO	genetic disorder	Short rib-polydactyly syndrome, Saldino-Noonan type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93270	"" []	3197320	\N	\N	EFO	5	EFO	bone disease	Short rib-polydactyly syndrome, Saldino-Noonan type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93270	"" []	3197321	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Short rib-polydactyly syndrome, Saldino-Noonan type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93270	"" []	5418714	\N	\N	EFO	7	EFO	disease	Short rib-polydactyly syndrome, Saldino-Noonan type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93270	"" []	4402777	\N	\N	EFO	6	EFO	skeletal system disease	Short rib-polydactyly syndrome, Saldino-Noonan type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93270	"" []	4402778	\N	\N	EFO	6	EFO	genetic disorder	Short rib-polydactyly syndrome, Saldino-Noonan type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93270	"" []	5998896	\N	\N	EFO	8	EFO	disposition	Short rib-polydactyly syndrome, Saldino-Noonan type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93270	"" []	5418713	\N	\N	EFO	7	EFO	disease	Short rib-polydactyly syndrome, Saldino-Noonan type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93270	"" []	6551897	\N	\N	EFO	9	EFO	material property	Short rib-polydactyly syndrome, Saldino-Noonan type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93270	"" []	6889567	\N	\N	EFO	10	EFO	experimental factor	Short rib-polydactyly syndrome, Saldino-Noonan type
Orphanet:93271	\N	\N	"" []	Orphanet:93271	"" []	78470	\N	\N	EFO	0	EFO	Short rib-polydactyly syndrome, Verma-Naumoff type	Short rib-polydactyly syndrome, Verma-Naumoff type
Orphanet:117573	Orphanet:93271	\N	"" []	Orphanet:93271	"" []	223317	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Short rib-polydactyly syndrome, Verma-Naumoff type
Orphanet:1505	Orphanet:93271	\N	"" []	Orphanet:93271	"" []	223318	\N	\N	EFO	1	EFO	Short rib-polydactyly syndrome	Short rib-polydactyly syndrome, Verma-Naumoff type
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:93271	"" []	579830	\N	\N	EFO	2	EFO	Anorectal malformation	Short rib-polydactyly syndrome, Verma-Naumoff type
Orphanet:93426	Orphanet:1505	\N	"" []	Orphanet:93271	"" []	579831	\N	\N	EFO	2	EFO	Short rib dysplasia	Short rib-polydactyly syndrome, Verma-Naumoff type
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:93271	"" []	1163583	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Short rib-polydactyly syndrome, Verma-Naumoff type
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:93271	"" []	1163584	\N	\N	EFO	3	EFO	Primary bone dysplasia	Short rib-polydactyly syndrome, Verma-Naumoff type
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:93271	"" []	2047315	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Short rib-polydactyly syndrome, Verma-Naumoff type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93271	"" []	2047316	\N	\N	EFO	4	EFO	Rare genetic bone disease	Short rib-polydactyly syndrome, Verma-Naumoff type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93271	"" []	2047317	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Short rib-polydactyly syndrome, Verma-Naumoff type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93271	"" []	4402781	\N	\N	EFO	6	EFO	genetic disorder	Short rib-polydactyly syndrome, Verma-Naumoff type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93271	"" []	3197323	\N	\N	EFO	5	EFO	genetic disorder	Short rib-polydactyly syndrome, Verma-Naumoff type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93271	"" []	3197324	\N	\N	EFO	5	EFO	bone disease	Short rib-polydactyly syndrome, Verma-Naumoff type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93271	"" []	3197325	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Short rib-polydactyly syndrome, Verma-Naumoff type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93271	"" []	5183573	\N	\N	EFO	7	EFO	disease	Short rib-polydactyly syndrome, Verma-Naumoff type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93271	"" []	4402780	\N	\N	EFO	6	EFO	skeletal system disease	Short rib-polydactyly syndrome, Verma-Naumoff type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93271	"" []	5998897	\N	\N	EFO	8	EFO	disposition	Short rib-polydactyly syndrome, Verma-Naumoff type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93271	"" []	5418716	\N	\N	EFO	7	EFO	disease	Short rib-polydactyly syndrome, Verma-Naumoff type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93271	"" []	6551898	\N	\N	EFO	9	EFO	material property	Short rib-polydactyly syndrome, Verma-Naumoff type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93271	"" []	6889568	\N	\N	EFO	10	EFO	experimental factor	Short rib-polydactyly syndrome, Verma-Naumoff type
Orphanet:93274	\N	\N	")." []	Orphanet:93274	")." []	78471	\N	\N	EFO	0	EFO	Thanatophoric dysplasia type 2	Thanatophoric dysplasia type 2
Orphanet:2655	Orphanet:93274	\N	"Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." []	Orphanet:93274	")." []	223319	\N	\N	EFO	1	EFO	Thanatophoric dysplasia	Thanatophoric dysplasia type 2
Orphanet:364536	Orphanet:2655	\N	"" []	Orphanet:93274	")." []	579832	\N	\N	EFO	2	EFO	Primary bone dysplasia with micromelia	Thanatophoric dysplasia type 2
Orphanet:93420	Orphanet:2655	\N	"" []	Orphanet:93274	")." []	579833	\N	\N	EFO	2	EFO	FGFR3-related chondrodysplasia	Thanatophoric dysplasia type 2
Orphanet:364526	Orphanet:364536	\N	"" []	Orphanet:93274	")." []	1163585	\N	\N	EFO	3	EFO	Primary bone dysplasia	Thanatophoric dysplasia type 2
Orphanet:364803	Orphanet:93420	\N	"" []	Orphanet:93274	")." []	1163586	\N	\N	EFO	3	EFO	Rare bone disease related to a common gene or pathway defect	Thanatophoric dysplasia type 2
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93274	")." []	2047318	\N	\N	EFO	4	EFO	Rare genetic bone disease	Thanatophoric dysplasia type 2
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93274	")." []	2047319	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Thanatophoric dysplasia type 2
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93274	")." []	2047320	\N	\N	EFO	4	EFO	Rare genetic bone disease	Thanatophoric dysplasia type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93274	")." []	3197326	\N	\N	EFO	5	EFO	genetic disorder	Thanatophoric dysplasia type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93274	")." []	3197327	\N	\N	EFO	5	EFO	bone disease	Thanatophoric dysplasia type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93274	")." []	3197328	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Thanatophoric dysplasia type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93274	")." []	5418719	\N	\N	EFO	7	EFO	disease	Thanatophoric dysplasia type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93274	")." []	4402783	\N	\N	EFO	6	EFO	skeletal system disease	Thanatophoric dysplasia type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93274	")." []	4402784	\N	\N	EFO	6	EFO	genetic disorder	Thanatophoric dysplasia type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93274	")." []	5998898	\N	\N	EFO	8	EFO	disposition	Thanatophoric dysplasia type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93274	")." []	5418718	\N	\N	EFO	7	EFO	disease	Thanatophoric dysplasia type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93274	")." []	6551899	\N	\N	EFO	9	EFO	material property	Thanatophoric dysplasia type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93274	")." []	6889569	\N	\N	EFO	10	EFO	experimental factor	Thanatophoric dysplasia type 2
Orphanet:93276	\N	\N	"" []	Orphanet:93276	"" []	78472	\N	\N	EFO	0	EFO	Polyostotic fibrous dysplasia	Polyostotic fibrous dysplasia
Orphanet:249	Orphanet:93276	\N	"" []	Orphanet:93276	"" []	223320	\N	\N	EFO	1	EFO	Fibrous dysplasia of bone	Polyostotic fibrous dysplasia
Orphanet:93450	Orphanet:249	\N	"" []	Orphanet:93276	"" []	579834	\N	\N	EFO	2	EFO	Primary bone dysplasia with disorganized development of skeletal components	Polyostotic fibrous dysplasia
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:93276	"" []	1163587	\N	\N	EFO	3	EFO	Primary bone dysplasia	Polyostotic fibrous dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93276	"" []	2047321	\N	\N	EFO	4	EFO	Rare genetic bone disease	Polyostotic fibrous dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93276	"" []	2047322	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Polyostotic fibrous dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93276	"" []	3197329	\N	\N	EFO	5	EFO	genetic disorder	Polyostotic fibrous dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93276	"" []	3197330	\N	\N	EFO	5	EFO	bone disease	Polyostotic fibrous dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93276	"" []	3197331	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Polyostotic fibrous dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93276	"" []	5418722	\N	\N	EFO	7	EFO	disease	Polyostotic fibrous dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93276	"" []	4402786	\N	\N	EFO	6	EFO	skeletal system disease	Polyostotic fibrous dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93276	"" []	4402787	\N	\N	EFO	6	EFO	genetic disorder	Polyostotic fibrous dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93276	"" []	5998899	\N	\N	EFO	8	EFO	disposition	Polyostotic fibrous dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93276	"" []	5418721	\N	\N	EFO	7	EFO	disease	Polyostotic fibrous dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93276	"" []	6551900	\N	\N	EFO	9	EFO	material property	Polyostotic fibrous dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93276	"" []	6889570	\N	\N	EFO	10	EFO	experimental factor	Polyostotic fibrous dysplasia
Orphanet:93277	\N	\N	"" []	Orphanet:93277	"" []	78473	\N	\N	EFO	0	EFO	Monostotic fibrous dysplasia	Monostotic fibrous dysplasia
Orphanet:249	Orphanet:93277	\N	"" []	Orphanet:93277	"" []	223321	\N	\N	EFO	1	EFO	Fibrous dysplasia of bone	Monostotic fibrous dysplasia
Orphanet:93450	Orphanet:249	\N	"" []	Orphanet:93277	"" []	579835	\N	\N	EFO	2	EFO	Primary bone dysplasia with disorganized development of skeletal components	Monostotic fibrous dysplasia
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:93277	"" []	1163588	\N	\N	EFO	3	EFO	Primary bone dysplasia	Monostotic fibrous dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93277	"" []	2047323	\N	\N	EFO	4	EFO	Rare genetic bone disease	Monostotic fibrous dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93277	"" []	2047324	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Monostotic fibrous dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93277	"" []	3197332	\N	\N	EFO	5	EFO	genetic disorder	Monostotic fibrous dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93277	"" []	3197333	\N	\N	EFO	5	EFO	bone disease	Monostotic fibrous dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93277	"" []	3197334	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Monostotic fibrous dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93277	"" []	5418725	\N	\N	EFO	7	EFO	disease	Monostotic fibrous dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93277	"" []	4402789	\N	\N	EFO	6	EFO	skeletal system disease	Monostotic fibrous dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93277	"" []	4402790	\N	\N	EFO	6	EFO	genetic disorder	Monostotic fibrous dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93277	"" []	5998900	\N	\N	EFO	8	EFO	disposition	Monostotic fibrous dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93277	"" []	5418724	\N	\N	EFO	7	EFO	disease	Monostotic fibrous dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93277	"" []	6551901	\N	\N	EFO	9	EFO	material property	Monostotic fibrous dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93277	"" []	6889571	\N	\N	EFO	10	EFO	experimental factor	Monostotic fibrous dysplasia
Orphanet:93279	\N	\N	"" []	Orphanet:93279	"" []	78474	\N	\N	EFO	0	EFO	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Orphanet:253	Orphanet:93279	\N	"" []	Orphanet:93279	"" []	223322	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Orphanet:93421	Orphanet:93279	\N	"" []	Orphanet:93279	"" []	223323	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93279	"" []	579836	\N	\N	EFO	2	EFO	Primary bone dysplasia	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:93279	"" []	579837	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93279	"" []	1163589	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93279	"" []	1163590	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93279	"" []	1163591	\N	\N	EFO	3	EFO	Rare genetic bone disease	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93279	"" []	2047325	\N	\N	EFO	4	EFO	genetic disorder	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93279	"" []	2047326	\N	\N	EFO	4	EFO	bone disease	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93279	"" []	2047327	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93279	"" []	4402793	\N	\N	EFO	6	EFO	disease	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93279	"" []	3197336	\N	\N	EFO	5	EFO	skeletal system disease	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93279	"" []	3197337	\N	\N	EFO	5	EFO	genetic disorder	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93279	"" []	5183574	\N	\N	EFO	7	EFO	disposition	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93279	"" []	4402792	\N	\N	EFO	6	EFO	disease	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93279	"" []	5998901	\N	\N	EFO	8	EFO	material property	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93279	"" []	6551902	\N	\N	EFO	9	EFO	experimental factor	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Orphanet:93282	\N	\N	"" []	Orphanet:93282	"" []	78475	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia, Pakistani type	Spondyloepimetaphyseal dysplasia, Pakistani type
Orphanet:253	Orphanet:93282	\N	"" []	Orphanet:93282	"" []	223324	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia, Pakistani type
Orphanet:93423	Orphanet:93282	\N	"" []	Orphanet:93282	"" []	223325	\N	\N	EFO	1	EFO	Sulfation-related bone disorder	Spondyloepimetaphyseal dysplasia, Pakistani type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93282	"" []	579838	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia, Pakistani type
Orphanet:364803	Orphanet:93423	\N	"" []	Orphanet:93282	"" []	579839	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Spondyloepimetaphyseal dysplasia, Pakistani type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93282	"" []	1163592	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia, Pakistani type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93282	"" []	1163593	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia, Pakistani type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93282	"" []	1163594	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia, Pakistani type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93282	"" []	2047328	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Pakistani type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93282	"" []	2047329	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia, Pakistani type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93282	"" []	2047330	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia, Pakistani type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93282	"" []	4402796	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Pakistani type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93282	"" []	3197339	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia, Pakistani type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93282	"" []	3197340	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Pakistani type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93282	"" []	5183575	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia, Pakistani type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93282	"" []	4402795	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Pakistani type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93282	"" []	5998902	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia, Pakistani type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93282	"" []	6551903	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia, Pakistani type
Orphanet:93283	\N	\N	"" []	Orphanet:93283	"" []	78476	\N	\N	EFO	0	EFO	Spondyloepiphyseal dysplasia, Kimberley type	Spondyloepiphyseal dysplasia, Kimberley type
Orphanet:253	Orphanet:93283	\N	"" []	Orphanet:93283	"" []	223326	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepiphyseal dysplasia, Kimberley type
Orphanet:364817	Orphanet:93283	\N	"" []	Orphanet:93283	"" []	223327	\N	\N	EFO	1	EFO	Aggrecan-related bone disorder	Spondyloepiphyseal dysplasia, Kimberley type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93283	"" []	579840	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepiphyseal dysplasia, Kimberley type
Orphanet:364803	Orphanet:364817	\N	"" []	Orphanet:93283	"" []	579841	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Spondyloepiphyseal dysplasia, Kimberley type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93283	"" []	1163595	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia, Kimberley type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93283	"" []	1163596	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepiphyseal dysplasia, Kimberley type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93283	"" []	1163597	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia, Kimberley type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93283	"" []	2047331	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepiphyseal dysplasia, Kimberley type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93283	"" []	2047332	\N	\N	EFO	4	EFO	bone disease	Spondyloepiphyseal dysplasia, Kimberley type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93283	"" []	2047333	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepiphyseal dysplasia, Kimberley type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93283	"" []	4402799	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia, Kimberley type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93283	"" []	3197342	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepiphyseal dysplasia, Kimberley type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93283	"" []	3197343	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepiphyseal dysplasia, Kimberley type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93283	"" []	5183576	\N	\N	EFO	7	EFO	disposition	Spondyloepiphyseal dysplasia, Kimberley type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93283	"" []	4402798	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia, Kimberley type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93283	"" []	5998903	\N	\N	EFO	8	EFO	material property	Spondyloepiphyseal dysplasia, Kimberley type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93283	"" []	6551904	\N	\N	EFO	9	EFO	experimental factor	Spondyloepiphyseal dysplasia, Kimberley type
Orphanet:93284	\N	\N	"" []	Orphanet:93284	"" []	78477	\N	\N	EFO	0	EFO	Spondyloepiphyseal dysplasia tarda	Spondyloepiphyseal dysplasia tarda
Orphanet:253	Orphanet:93284	\N	"" []	Orphanet:93284	"" []	223328	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepiphyseal dysplasia tarda
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93284	"" []	579842	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepiphyseal dysplasia tarda
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93284	"" []	1163598	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia tarda
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93284	"" []	1163599	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepiphyseal dysplasia tarda
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93284	"" []	2047334	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepiphyseal dysplasia tarda
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93284	"" []	2047335	\N	\N	EFO	4	EFO	bone disease	Spondyloepiphyseal dysplasia tarda
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93284	"" []	2047336	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepiphyseal dysplasia tarda
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93284	"" []	4402802	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia tarda
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93284	"" []	3197345	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepiphyseal dysplasia tarda
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93284	"" []	3197346	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepiphyseal dysplasia tarda
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93284	"" []	5183577	\N	\N	EFO	7	EFO	disposition	Spondyloepiphyseal dysplasia tarda
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93284	"" []	4402801	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia tarda
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93284	"" []	5998904	\N	\N	EFO	8	EFO	material property	Spondyloepiphyseal dysplasia tarda
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93284	"" []	6551905	\N	\N	EFO	9	EFO	experimental factor	Spondyloepiphyseal dysplasia tarda
Orphanet:93293	\N	\N	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	78478	\N	\N	EFO	0	EFO	Okihiro syndrome	Okihiro syndrome
Orphanet:117573	Orphanet:93293	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	223329	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Okihiro syndrome
Orphanet:404574	Orphanet:93293	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	223330	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Okihiro syndrome
Orphanet:98683	Orphanet:93293	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	223331	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Okihiro syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	579843	\N	\N	EFO	2	EFO	Anorectal malformation	Okihiro syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	579844	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Okihiro syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	579845	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Okihiro syndrome
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	579846	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Okihiro syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	1163600	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Okihiro syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	1163601	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Okihiro syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	1163602	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Okihiro syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	1163603	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Okihiro syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	2047337	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Okihiro syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	2047338	\N	\N	EFO	4	EFO	Rare genetic bone disease	Okihiro syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	2047339	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Okihiro syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	2047340	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Okihiro syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	2047341	\N	\N	EFO	4	EFO	Rare genetic eye disease	Okihiro syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	4402805	\N	\N	EFO	6	EFO	genetic disorder	Okihiro syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	3197348	\N	\N	EFO	5	EFO	genetic disorder	Okihiro syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	3197349	\N	\N	EFO	5	EFO	bone disease	Okihiro syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	3197350	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Okihiro syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	3197351	\N	\N	EFO	5	EFO	genetic disorder	Okihiro syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	3197352	\N	\N	EFO	5	EFO	eye disease	Okihiro syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	5183578	\N	\N	EFO	7	EFO	disease	Okihiro syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	4402804	\N	\N	EFO	6	EFO	skeletal system disease	Okihiro syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	4402806	\N	\N	EFO	6	EFO	disease	Okihiro syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	5998905	\N	\N	EFO	8	EFO	disposition	Okihiro syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	5418731	\N	\N	EFO	7	EFO	disease	Okihiro syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	6551906	\N	\N	EFO	9	EFO	material property	Okihiro syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93293	"Le rsum pour cette maladie est en cours de production. Cependant, vous pouvez accder  d'autres donnes sur cette maladie  partir du menu  Informations complmentaires  situ  droite sur cette page." []	6889572	\N	\N	EFO	10	EFO	experimental factor	Okihiro syndrome
Orphanet:93296	\N	\N	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	78479	\N	\N	EFO	0	EFO	Achondrogenesis type 2	Achondrogenesis type 2
Orphanet:932	Orphanet:93296	\N	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	223332	\N	\N	EFO	1	EFO	Achondrogenesis	Achondrogenesis type 2
Orphanet:93421	Orphanet:93296	\N	"" []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	223333	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Achondrogenesis type 2
Orphanet:93434	Orphanet:932	\N	"" []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	579847	\N	\N	EFO	2	EFO	Spondylodysplastic dysplasia	Achondrogenesis type 2
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	579848	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Achondrogenesis type 2
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	1163604	\N	\N	EFO	3	EFO	Primary bone dysplasia	Achondrogenesis type 2
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	1163605	\N	\N	EFO	3	EFO	Rare genetic bone disease	Achondrogenesis type 2
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	2047342	\N	\N	EFO	4	EFO	Rare genetic bone disease	Achondrogenesis type 2
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	2047343	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Achondrogenesis type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	3197353	\N	\N	EFO	5	EFO	genetic disorder	Achondrogenesis type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	3197354	\N	\N	EFO	5	EFO	bone disease	Achondrogenesis type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	3197355	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Achondrogenesis type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	5418732	\N	\N	EFO	7	EFO	disease	Achondrogenesis type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	4134488	\N	\N	EFO	6	EFO	skeletal system disease	Achondrogenesis type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	4402807	\N	\N	EFO	6	EFO	genetic disorder	Achondrogenesis type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	5877854	\N	\N	EFO	8	EFO	disposition	Achondrogenesis type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	5183580	\N	\N	EFO	7	EFO	disease	Achondrogenesis type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	6471075	\N	\N	EFO	9	EFO	material property	Achondrogenesis type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93296	"Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." []	6848879	\N	\N	EFO	10	EFO	experimental factor	Achondrogenesis type 2
Orphanet:93297	\N	\N	"" []	Orphanet:93297	"" []	78480	\N	\N	EFO	0	EFO	Hypochondrogenesis	Hypochondrogenesis
Orphanet:932	Orphanet:93297	\N	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	Orphanet:93297	"" []	223334	\N	\N	EFO	1	EFO	Achondrogenesis	Hypochondrogenesis
Orphanet:93421	Orphanet:93297	\N	"" []	Orphanet:93297	"" []	223335	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Hypochondrogenesis
Orphanet:93434	Orphanet:932	\N	"" []	Orphanet:93297	"" []	579849	\N	\N	EFO	2	EFO	Spondylodysplastic dysplasia	Hypochondrogenesis
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:93297	"" []	579850	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Hypochondrogenesis
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:93297	"" []	1163606	\N	\N	EFO	3	EFO	Primary bone dysplasia	Hypochondrogenesis
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93297	"" []	1163607	\N	\N	EFO	3	EFO	Rare genetic bone disease	Hypochondrogenesis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93297	"" []	2047346	\N	\N	EFO	4	EFO	Rare genetic bone disease	Hypochondrogenesis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93297	"" []	2047347	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Hypochondrogenesis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93297	"" []	3197358	\N	\N	EFO	5	EFO	genetic disorder	Hypochondrogenesis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93297	"" []	3197359	\N	\N	EFO	5	EFO	bone disease	Hypochondrogenesis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93297	"" []	3197360	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hypochondrogenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93297	"" []	5418734	\N	\N	EFO	7	EFO	disease	Hypochondrogenesis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93297	"" []	4134490	\N	\N	EFO	6	EFO	skeletal system disease	Hypochondrogenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93297	"" []	4402810	\N	\N	EFO	6	EFO	genetic disorder	Hypochondrogenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93297	"" []	5877855	\N	\N	EFO	8	EFO	disposition	Hypochondrogenesis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93297	"" []	5183582	\N	\N	EFO	7	EFO	disease	Hypochondrogenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93297	"" []	6471076	\N	\N	EFO	9	EFO	material property	Hypochondrogenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93297	"" []	6848880	\N	\N	EFO	10	EFO	experimental factor	Hypochondrogenesis
Orphanet:93298	\N	\N	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	78481	\N	\N	EFO	0	EFO	Achondrogenesis type 1B	Achondrogenesis type 1B
Orphanet:932	Orphanet:93298	\N	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	223336	\N	\N	EFO	1	EFO	Achondrogenesis	Achondrogenesis type 1B
Orphanet:93423	Orphanet:93298	\N	"" []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	223337	\N	\N	EFO	1	EFO	Sulfation-related bone disorder	Achondrogenesis type 1B
Orphanet:93434	Orphanet:932	\N	"" []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	579851	\N	\N	EFO	2	EFO	Spondylodysplastic dysplasia	Achondrogenesis type 1B
Orphanet:364803	Orphanet:93423	\N	"" []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	579852	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Achondrogenesis type 1B
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	1163608	\N	\N	EFO	3	EFO	Primary bone dysplasia	Achondrogenesis type 1B
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	1163609	\N	\N	EFO	3	EFO	Rare genetic bone disease	Achondrogenesis type 1B
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	2047350	\N	\N	EFO	4	EFO	Rare genetic bone disease	Achondrogenesis type 1B
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	2047351	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Achondrogenesis type 1B
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	3197363	\N	\N	EFO	5	EFO	genetic disorder	Achondrogenesis type 1B
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	3197364	\N	\N	EFO	5	EFO	bone disease	Achondrogenesis type 1B
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	3197365	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Achondrogenesis type 1B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	5418736	\N	\N	EFO	7	EFO	disease	Achondrogenesis type 1B
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	4134492	\N	\N	EFO	6	EFO	skeletal system disease	Achondrogenesis type 1B
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	4402813	\N	\N	EFO	6	EFO	genetic disorder	Achondrogenesis type 1B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	5877856	\N	\N	EFO	8	EFO	disposition	Achondrogenesis type 1B
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	5183584	\N	\N	EFO	7	EFO	disease	Achondrogenesis type 1B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	6471077	\N	\N	EFO	9	EFO	material property	Achondrogenesis type 1B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93298	"Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." []	6848881	\N	\N	EFO	10	EFO	experimental factor	Achondrogenesis type 1B
Orphanet:93299	\N	\N	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	78482	\N	\N	EFO	0	EFO	Achondrogenesis type 1A	Achondrogenesis type 1A
Orphanet:932	Orphanet:93299	\N	"Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	223338	\N	\N	EFO	1	EFO	Achondrogenesis	Achondrogenesis type 1A
Orphanet:93434	Orphanet:932	\N	"" []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	579853	\N	\N	EFO	2	EFO	Spondylodysplastic dysplasia	Achondrogenesis type 1A
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	1163610	\N	\N	EFO	3	EFO	Primary bone dysplasia	Achondrogenesis type 1A
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	2047354	\N	\N	EFO	4	EFO	Rare genetic bone disease	Achondrogenesis type 1A
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	2047355	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Achondrogenesis type 1A
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	3197368	\N	\N	EFO	5	EFO	genetic disorder	Achondrogenesis type 1A
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	3197369	\N	\N	EFO	5	EFO	bone disease	Achondrogenesis type 1A
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	3197370	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Achondrogenesis type 1A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	5418740	\N	\N	EFO	7	EFO	disease	Achondrogenesis type 1A
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	4402817	\N	\N	EFO	6	EFO	skeletal system disease	Achondrogenesis type 1A
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	4402818	\N	\N	EFO	6	EFO	genetic disorder	Achondrogenesis type 1A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	5998909	\N	\N	EFO	8	EFO	disposition	Achondrogenesis type 1A
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	5418739	\N	\N	EFO	7	EFO	disease	Achondrogenesis type 1A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	6551910	\N	\N	EFO	9	EFO	material property	Achondrogenesis type 1A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93299	"Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." []	6889573	\N	\N	EFO	10	EFO	experimental factor	Achondrogenesis type 1A
Orphanet:93301	\N	\N	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	78483	\N	\N	EFO	0	EFO	Brachyolmia type 1, Hobaek type	Brachyolmia type 1, Hobaek type
Orphanet:1293	Orphanet:93301	\N	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	223339	\N	\N	EFO	1	EFO	Brachyolmia	Brachyolmia type 1, Hobaek type
Orphanet:93434	Orphanet:1293	\N	"" []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	579854	\N	\N	EFO	2	EFO	Spondylodysplastic dysplasia	Brachyolmia type 1, Hobaek type
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	1163611	\N	\N	EFO	3	EFO	Primary bone dysplasia	Brachyolmia type 1, Hobaek type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	2047356	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachyolmia type 1, Hobaek type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	2047357	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachyolmia type 1, Hobaek type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	3197371	\N	\N	EFO	5	EFO	genetic disorder	Brachyolmia type 1, Hobaek type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	3197372	\N	\N	EFO	5	EFO	bone disease	Brachyolmia type 1, Hobaek type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	3197373	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachyolmia type 1, Hobaek type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	5418743	\N	\N	EFO	7	EFO	disease	Brachyolmia type 1, Hobaek type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	4402820	\N	\N	EFO	6	EFO	skeletal system disease	Brachyolmia type 1, Hobaek type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	4402821	\N	\N	EFO	6	EFO	genetic disorder	Brachyolmia type 1, Hobaek type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	5998910	\N	\N	EFO	8	EFO	disposition	Brachyolmia type 1, Hobaek type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	5418742	\N	\N	EFO	7	EFO	disease	Brachyolmia type 1, Hobaek type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	6551911	\N	\N	EFO	9	EFO	material property	Brachyolmia type 1, Hobaek type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93301	"Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." []	6889574	\N	\N	EFO	10	EFO	experimental factor	Brachyolmia type 1, Hobaek type
Orphanet:93302	\N	\N	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	78484	\N	\N	EFO	0	EFO	Brachyolmia, Maroteaux type	Brachyolmia, Maroteaux type
Orphanet:1293	Orphanet:93302	\N	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	223340	\N	\N	EFO	1	EFO	Brachyolmia	Brachyolmia, Maroteaux type
Orphanet:93434	Orphanet:1293	\N	"" []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	579855	\N	\N	EFO	2	EFO	Spondylodysplastic dysplasia	Brachyolmia, Maroteaux type
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	1163612	\N	\N	EFO	3	EFO	Primary bone dysplasia	Brachyolmia, Maroteaux type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	2047358	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachyolmia, Maroteaux type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	2047359	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachyolmia, Maroteaux type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	3197374	\N	\N	EFO	5	EFO	genetic disorder	Brachyolmia, Maroteaux type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	3197375	\N	\N	EFO	5	EFO	bone disease	Brachyolmia, Maroteaux type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	3197376	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachyolmia, Maroteaux type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	5418746	\N	\N	EFO	7	EFO	disease	Brachyolmia, Maroteaux type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	4402823	\N	\N	EFO	6	EFO	skeletal system disease	Brachyolmia, Maroteaux type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	4402824	\N	\N	EFO	6	EFO	genetic disorder	Brachyolmia, Maroteaux type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	5998911	\N	\N	EFO	8	EFO	disposition	Brachyolmia, Maroteaux type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	5418745	\N	\N	EFO	7	EFO	disease	Brachyolmia, Maroteaux type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	6551912	\N	\N	EFO	9	EFO	material property	Brachyolmia, Maroteaux type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93302	"Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." []	6889575	\N	\N	EFO	10	EFO	experimental factor	Brachyolmia, Maroteaux type
Orphanet:93303	\N	\N	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	78485	\N	\N	EFO	0	EFO	Brachyolmia type 1, Toledo type	Brachyolmia type 1, Toledo type
Orphanet:1293	Orphanet:93303	\N	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	223341	\N	\N	EFO	1	EFO	Brachyolmia	Brachyolmia type 1, Toledo type
Orphanet:93423	Orphanet:93303	\N	"" []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	223342	\N	\N	EFO	1	EFO	Sulfation-related bone disorder	Brachyolmia type 1, Toledo type
Orphanet:93434	Orphanet:1293	\N	"" []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	579856	\N	\N	EFO	2	EFO	Spondylodysplastic dysplasia	Brachyolmia type 1, Toledo type
Orphanet:364803	Orphanet:93423	\N	"" []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	579857	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Brachyolmia type 1, Toledo type
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	1163613	\N	\N	EFO	3	EFO	Primary bone dysplasia	Brachyolmia type 1, Toledo type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	1163614	\N	\N	EFO	3	EFO	Rare genetic bone disease	Brachyolmia type 1, Toledo type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	2047360	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachyolmia type 1, Toledo type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	2047361	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachyolmia type 1, Toledo type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	3197377	\N	\N	EFO	5	EFO	genetic disorder	Brachyolmia type 1, Toledo type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	3197378	\N	\N	EFO	5	EFO	bone disease	Brachyolmia type 1, Toledo type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	3197379	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachyolmia type 1, Toledo type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	5418747	\N	\N	EFO	7	EFO	disease	Brachyolmia type 1, Toledo type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	4134494	\N	\N	EFO	6	EFO	skeletal system disease	Brachyolmia type 1, Toledo type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	4402825	\N	\N	EFO	6	EFO	genetic disorder	Brachyolmia type 1, Toledo type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	5877857	\N	\N	EFO	8	EFO	disposition	Brachyolmia type 1, Toledo type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	5183586	\N	\N	EFO	7	EFO	disease	Brachyolmia type 1, Toledo type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	6471078	\N	\N	EFO	9	EFO	material property	Brachyolmia type 1, Toledo type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93303	"Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." []	6848882	\N	\N	EFO	10	EFO	experimental factor	Brachyolmia type 1, Toledo type
Orphanet:93304	\N	\N	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	78486	\N	\N	EFO	0	EFO	Autosomal dominant brachyolmia	Autosomal dominant brachyolmia
Orphanet:1293	Orphanet:93304	\N	"Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	223343	\N	\N	EFO	1	EFO	Brachyolmia	Autosomal dominant brachyolmia
Orphanet:364820	Orphanet:93304	\N	"" []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	223344	\N	\N	EFO	1	EFO	TRPV4-related bone disorder	Autosomal dominant brachyolmia
Orphanet:93434	Orphanet:1293	\N	"" []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	579858	\N	\N	EFO	2	EFO	Spondylodysplastic dysplasia	Autosomal dominant brachyolmia
Orphanet:364803	Orphanet:364820	\N	"" []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	579859	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Autosomal dominant brachyolmia
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	1163615	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal dominant brachyolmia
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	1163616	\N	\N	EFO	3	EFO	Rare genetic bone disease	Autosomal dominant brachyolmia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	2047364	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal dominant brachyolmia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	2047365	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal dominant brachyolmia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	3197382	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant brachyolmia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	3197383	\N	\N	EFO	5	EFO	bone disease	Autosomal dominant brachyolmia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	3197384	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant brachyolmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	5418749	\N	\N	EFO	7	EFO	disease	Autosomal dominant brachyolmia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	4134496	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal dominant brachyolmia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	4402828	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant brachyolmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	5877858	\N	\N	EFO	8	EFO	disposition	Autosomal dominant brachyolmia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	5183588	\N	\N	EFO	7	EFO	disease	Autosomal dominant brachyolmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	6471079	\N	\N	EFO	9	EFO	material property	Autosomal dominant brachyolmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93304	"Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." []	6848883	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant brachyolmia
Orphanet:93307	\N	\N	"" []	Orphanet:93307	"" []	78487	\N	\N	EFO	0	EFO	Multiple epiphyseal dysplasia type 4	Multiple epiphyseal dysplasia type 4
Orphanet:251	Orphanet:93307	\N	"" []	Orphanet:93307	"" []	223345	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia	Multiple epiphyseal dysplasia type 4
Orphanet:93423	Orphanet:93307	\N	"" []	Orphanet:93307	"" []	223346	\N	\N	EFO	1	EFO	Sulfation-related bone disorder	Multiple epiphyseal dysplasia type 4
Orphanet:93429	Orphanet:251	\N	"" []	Orphanet:93307	"" []	579860	\N	\N	EFO	2	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Multiple epiphyseal dysplasia type 4
Orphanet:364803	Orphanet:93423	\N	"" []	Orphanet:93307	"" []	579861	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Multiple epiphyseal dysplasia type 4
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:93307	"" []	1163617	\N	\N	EFO	3	EFO	Primary bone dysplasia	Multiple epiphyseal dysplasia type 4
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93307	"" []	1163618	\N	\N	EFO	3	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia type 4
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93307	"" []	2047368	\N	\N	EFO	4	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia type 4
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93307	"" []	2047369	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Multiple epiphyseal dysplasia type 4
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93307	"" []	3197387	\N	\N	EFO	5	EFO	genetic disorder	Multiple epiphyseal dysplasia type 4
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93307	"" []	3197388	\N	\N	EFO	5	EFO	bone disease	Multiple epiphyseal dysplasia type 4
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93307	"" []	3197389	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Multiple epiphyseal dysplasia type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93307	"" []	5418751	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia type 4
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93307	"" []	4134498	\N	\N	EFO	6	EFO	skeletal system disease	Multiple epiphyseal dysplasia type 4
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93307	"" []	4402831	\N	\N	EFO	6	EFO	genetic disorder	Multiple epiphyseal dysplasia type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93307	"" []	5877859	\N	\N	EFO	8	EFO	disposition	Multiple epiphyseal dysplasia type 4
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93307	"" []	5183590	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93307	"" []	6471080	\N	\N	EFO	9	EFO	material property	Multiple epiphyseal dysplasia type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93307	"" []	6848884	\N	\N	EFO	10	EFO	experimental factor	Multiple epiphyseal dysplasia type 4
Orphanet:93308	\N	\N	"" []	Orphanet:93308	"" []	78488	\N	\N	EFO	0	EFO	Multiple epiphyseal dysplasia type 1	Multiple epiphyseal dysplasia type 1
Orphanet:251	Orphanet:93308	\N	"" []	Orphanet:93308	"" []	223347	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia	Multiple epiphyseal dysplasia type 1
Orphanet:93429	Orphanet:251	\N	"" []	Orphanet:93308	"" []	579862	\N	\N	EFO	2	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Multiple epiphyseal dysplasia type 1
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:93308	"" []	1163619	\N	\N	EFO	3	EFO	Primary bone dysplasia	Multiple epiphyseal dysplasia type 1
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93308	"" []	2047372	\N	\N	EFO	4	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia type 1
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93308	"" []	2047373	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Multiple epiphyseal dysplasia type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93308	"" []	3197392	\N	\N	EFO	5	EFO	genetic disorder	Multiple epiphyseal dysplasia type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93308	"" []	3197393	\N	\N	EFO	5	EFO	bone disease	Multiple epiphyseal dysplasia type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93308	"" []	3197394	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Multiple epiphyseal dysplasia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93308	"" []	5418755	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93308	"" []	4402835	\N	\N	EFO	6	EFO	skeletal system disease	Multiple epiphyseal dysplasia type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93308	"" []	4402836	\N	\N	EFO	6	EFO	genetic disorder	Multiple epiphyseal dysplasia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93308	"" []	5998915	\N	\N	EFO	8	EFO	disposition	Multiple epiphyseal dysplasia type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93308	"" []	5418754	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93308	"" []	6551916	\N	\N	EFO	9	EFO	material property	Multiple epiphyseal dysplasia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93308	"" []	6889576	\N	\N	EFO	10	EFO	experimental factor	Multiple epiphyseal dysplasia type 1
Orphanet:93311	\N	\N	"" []	Orphanet:93311	"" []	78489	\N	\N	EFO	0	EFO	Multiple epiphyseal dysplasia type 5	Multiple epiphyseal dysplasia type 5
Orphanet:251	Orphanet:93311	\N	"" []	Orphanet:93311	"" []	223348	\N	\N	EFO	1	EFO	Multiple epiphyseal dysplasia	Multiple epiphyseal dysplasia type 5
Orphanet:93429	Orphanet:251	\N	"" []	Orphanet:93311	"" []	579863	\N	\N	EFO	2	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Multiple epiphyseal dysplasia type 5
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:93311	"" []	1163620	\N	\N	EFO	3	EFO	Primary bone dysplasia	Multiple epiphyseal dysplasia type 5
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93311	"" []	2047374	\N	\N	EFO	4	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia type 5
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93311	"" []	2047375	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Multiple epiphyseal dysplasia type 5
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93311	"" []	3197395	\N	\N	EFO	5	EFO	genetic disorder	Multiple epiphyseal dysplasia type 5
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93311	"" []	3197396	\N	\N	EFO	5	EFO	bone disease	Multiple epiphyseal dysplasia type 5
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93311	"" []	3197397	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Multiple epiphyseal dysplasia type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93311	"" []	5418758	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia type 5
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93311	"" []	4402838	\N	\N	EFO	6	EFO	skeletal system disease	Multiple epiphyseal dysplasia type 5
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93311	"" []	4402839	\N	\N	EFO	6	EFO	genetic disorder	Multiple epiphyseal dysplasia type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93311	"" []	5998916	\N	\N	EFO	8	EFO	disposition	Multiple epiphyseal dysplasia type 5
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93311	"" []	5418757	\N	\N	EFO	7	EFO	disease	Multiple epiphyseal dysplasia type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93311	"" []	6551917	\N	\N	EFO	9	EFO	material property	Multiple epiphyseal dysplasia type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93311	"" []	6889577	\N	\N	EFO	10	EFO	experimental factor	Multiple epiphyseal dysplasia type 5
Orphanet:93314	\N	\N	"" []	Orphanet:93314	"" []	78490	\N	\N	EFO	0	EFO	Spondylometaphyseal dysplasia, Kozlowski type	Spondylometaphyseal dysplasia, Kozlowski type
Orphanet:254	Orphanet:93314	\N	"" []	Orphanet:93314	"" []	223349	\N	\N	EFO	1	EFO	Spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia, Kozlowski type
Orphanet:364820	Orphanet:93314	\N	"" []	Orphanet:93314	"" []	223350	\N	\N	EFO	1	EFO	TRPV4-related bone disorder	Spondylometaphyseal dysplasia, Kozlowski type
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:93314	"" []	579864	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylometaphyseal dysplasia, Kozlowski type
Orphanet:364803	Orphanet:364820	\N	"" []	Orphanet:93314	"" []	579865	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Spondylometaphyseal dysplasia, Kozlowski type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93314	"" []	1163621	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia, Kozlowski type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93314	"" []	1163622	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylometaphyseal dysplasia, Kozlowski type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93314	"" []	1163623	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia, Kozlowski type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93314	"" []	2047376	\N	\N	EFO	4	EFO	genetic disorder	Spondylometaphyseal dysplasia, Kozlowski type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93314	"" []	2047377	\N	\N	EFO	4	EFO	bone disease	Spondylometaphyseal dysplasia, Kozlowski type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93314	"" []	2047378	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylometaphyseal dysplasia, Kozlowski type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93314	"" []	4402842	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, Kozlowski type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93314	"" []	3197399	\N	\N	EFO	5	EFO	skeletal system disease	Spondylometaphyseal dysplasia, Kozlowski type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93314	"" []	3197400	\N	\N	EFO	5	EFO	genetic disorder	Spondylometaphyseal dysplasia, Kozlowski type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93314	"" []	5183591	\N	\N	EFO	7	EFO	disposition	Spondylometaphyseal dysplasia, Kozlowski type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93314	"" []	4402841	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, Kozlowski type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93314	"" []	5998917	\N	\N	EFO	8	EFO	material property	Spondylometaphyseal dysplasia, Kozlowski type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93314	"" []	6551918	\N	\N	EFO	9	EFO	experimental factor	Spondylometaphyseal dysplasia, Kozlowski type
Orphanet:93315	\N	\N	"" []	Orphanet:93315	"" []	78491	\N	\N	EFO	0	EFO	Spondylometaphyseal dysplasia, 'corner fracture' type	Spondylometaphyseal dysplasia, 'corner fracture' type
Orphanet:254	Orphanet:93315	\N	"" []	Orphanet:93315	"" []	223351	\N	\N	EFO	1	EFO	Spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia, 'corner fracture' type
Orphanet:93421	Orphanet:93315	\N	"" []	Orphanet:93315	"" []	223352	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Spondylometaphyseal dysplasia, 'corner fracture' type
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:93315	"" []	579866	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylometaphyseal dysplasia, 'corner fracture' type
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:93315	"" []	579867	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Spondylometaphyseal dysplasia, 'corner fracture' type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93315	"" []	1163624	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia, 'corner fracture' type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93315	"" []	1163625	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylometaphyseal dysplasia, 'corner fracture' type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93315	"" []	1163626	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia, 'corner fracture' type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93315	"" []	2047379	\N	\N	EFO	4	EFO	genetic disorder	Spondylometaphyseal dysplasia, 'corner fracture' type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93315	"" []	2047380	\N	\N	EFO	4	EFO	bone disease	Spondylometaphyseal dysplasia, 'corner fracture' type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93315	"" []	2047381	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylometaphyseal dysplasia, 'corner fracture' type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93315	"" []	4402845	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, 'corner fracture' type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93315	"" []	3197402	\N	\N	EFO	5	EFO	skeletal system disease	Spondylometaphyseal dysplasia, 'corner fracture' type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93315	"" []	3197403	\N	\N	EFO	5	EFO	genetic disorder	Spondylometaphyseal dysplasia, 'corner fracture' type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93315	"" []	5183592	\N	\N	EFO	7	EFO	disposition	Spondylometaphyseal dysplasia, 'corner fracture' type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93315	"" []	4402844	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, 'corner fracture' type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93315	"" []	5998918	\N	\N	EFO	8	EFO	material property	Spondylometaphyseal dysplasia, 'corner fracture' type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93315	"" []	6551919	\N	\N	EFO	9	EFO	experimental factor	Spondylometaphyseal dysplasia, 'corner fracture' type
Orphanet:93316	\N	\N	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	78492	\N	\N	EFO	0	EFO	Spondylometaphyseal dysplasia, Schmidt type	Spondylometaphyseal dysplasia, Schmidt type
Orphanet:254	Orphanet:93316	\N	"" []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	223353	\N	\N	EFO	1	EFO	Spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia, Schmidt type
Orphanet:93421	Orphanet:93316	\N	"" []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	223354	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Spondylometaphyseal dysplasia, Schmidt type
Orphanet:364526	Orphanet:254	\N	"" []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	579868	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylometaphyseal dysplasia, Schmidt type
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	579869	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Spondylometaphyseal dysplasia, Schmidt type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	1163627	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia, Schmidt type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	1163628	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylometaphyseal dysplasia, Schmidt type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	1163629	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia, Schmidt type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	2047382	\N	\N	EFO	4	EFO	genetic disorder	Spondylometaphyseal dysplasia, Schmidt type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	2047383	\N	\N	EFO	4	EFO	bone disease	Spondylometaphyseal dysplasia, Schmidt type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	2047384	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylometaphyseal dysplasia, Schmidt type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	4402848	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, Schmidt type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	3197405	\N	\N	EFO	5	EFO	skeletal system disease	Spondylometaphyseal dysplasia, Schmidt type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	3197406	\N	\N	EFO	5	EFO	genetic disorder	Spondylometaphyseal dysplasia, Schmidt type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	5183593	\N	\N	EFO	7	EFO	disposition	Spondylometaphyseal dysplasia, Schmidt type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	4402847	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, Schmidt type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	5998919	\N	\N	EFO	8	EFO	material property	Spondylometaphyseal dysplasia, Schmidt type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93316	"Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." []	6551920	\N	\N	EFO	9	EFO	experimental factor	Spondylometaphyseal dysplasia, Schmidt type
Orphanet:93317	\N	\N	"" []	Orphanet:93317	"" []	78493	\N	\N	EFO	0	EFO	Spondylometaphyseal dysplasia, Sedaghatian type	Spondylometaphyseal dysplasia, Sedaghatian type
Orphanet:93434	Orphanet:93317	\N	"" []	Orphanet:93317	"" []	223355	\N	\N	EFO	1	EFO	Spondylodysplastic dysplasia	Spondylometaphyseal dysplasia, Sedaghatian type
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:93317	"" []	579870	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondylometaphyseal dysplasia, Sedaghatian type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93317	"" []	1163630	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylometaphyseal dysplasia, Sedaghatian type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93317	"" []	1163631	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylometaphyseal dysplasia, Sedaghatian type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93317	"" []	2047385	\N	\N	EFO	4	EFO	genetic disorder	Spondylometaphyseal dysplasia, Sedaghatian type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93317	"" []	2047386	\N	\N	EFO	4	EFO	bone disease	Spondylometaphyseal dysplasia, Sedaghatian type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93317	"" []	2047387	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylometaphyseal dysplasia, Sedaghatian type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93317	"" []	4402851	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, Sedaghatian type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93317	"" []	3197408	\N	\N	EFO	5	EFO	skeletal system disease	Spondylometaphyseal dysplasia, Sedaghatian type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93317	"" []	3197409	\N	\N	EFO	5	EFO	genetic disorder	Spondylometaphyseal dysplasia, Sedaghatian type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93317	"" []	5183594	\N	\N	EFO	7	EFO	disposition	Spondylometaphyseal dysplasia, Sedaghatian type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93317	"" []	4402850	\N	\N	EFO	6	EFO	disease	Spondylometaphyseal dysplasia, Sedaghatian type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93317	"" []	5998920	\N	\N	EFO	8	EFO	material property	Spondylometaphyseal dysplasia, Sedaghatian type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93317	"" []	6551921	\N	\N	EFO	9	EFO	experimental factor	Spondylometaphyseal dysplasia, Sedaghatian type
Orphanet:93320	\N	\N	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	78494	\N	\N	EFO	0	EFO	Ulnar hemimelia	Ulnar hemimelia
Orphanet:2130	Orphanet:93320	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	223356	\N	\N	EFO	1	EFO	Hemimelia	Ulnar hemimelia
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	579871	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Ulnar hemimelia
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	1163632	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Ulnar hemimelia
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	1163633	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Ulnar hemimelia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	2047388	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Ulnar hemimelia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	2047389	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Ulnar hemimelia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	3197410	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ulnar hemimelia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	3197411	\N	\N	EFO	5	EFO	Rare genetic bone disease	Ulnar hemimelia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	3197412	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Ulnar hemimelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	5418765	\N	\N	EFO	7	EFO	genetic disorder	Ulnar hemimelia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	4402853	\N	\N	EFO	6	EFO	genetic disorder	Ulnar hemimelia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	4402854	\N	\N	EFO	6	EFO	bone disease	Ulnar hemimelia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	4402855	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Ulnar hemimelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	5998921	\N	\N	EFO	8	EFO	disease	Ulnar hemimelia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	5418764	\N	\N	EFO	7	EFO	skeletal system disease	Ulnar hemimelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	6551922	\N	\N	EFO	9	EFO	disposition	Ulnar hemimelia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	6153211	\N	\N	EFO	8	EFO	disease	Ulnar hemimelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	6889578	\N	\N	EFO	10	EFO	material property	Ulnar hemimelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93320	"Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." []	7086067	\N	\N	EFO	11	EFO	experimental factor	Ulnar hemimelia
Orphanet:93321	\N	\N	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	78495	\N	\N	EFO	0	EFO	Radial hemimelia	Radial hemimelia
Orphanet:2130	Orphanet:93321	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	223357	\N	\N	EFO	1	EFO	Hemimelia	Radial hemimelia
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	579872	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Radial hemimelia
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	1163634	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Radial hemimelia
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	1163635	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Radial hemimelia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	2047390	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Radial hemimelia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	2047391	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Radial hemimelia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	3197413	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Radial hemimelia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	3197414	\N	\N	EFO	5	EFO	Rare genetic bone disease	Radial hemimelia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	3197415	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Radial hemimelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	5418768	\N	\N	EFO	7	EFO	genetic disorder	Radial hemimelia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	4402857	\N	\N	EFO	6	EFO	genetic disorder	Radial hemimelia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	4402858	\N	\N	EFO	6	EFO	bone disease	Radial hemimelia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	4402859	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Radial hemimelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	5998922	\N	\N	EFO	8	EFO	disease	Radial hemimelia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	5418767	\N	\N	EFO	7	EFO	skeletal system disease	Radial hemimelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	6551923	\N	\N	EFO	9	EFO	disposition	Radial hemimelia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	6153213	\N	\N	EFO	8	EFO	disease	Radial hemimelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	6889579	\N	\N	EFO	10	EFO	material property	Radial hemimelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93321	"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." []	7086068	\N	\N	EFO	11	EFO	experimental factor	Radial hemimelia
Orphanet:93322	\N	\N	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	78496	\N	\N	EFO	0	EFO	Tibial hemimelia	Tibial hemimelia
Orphanet:2130	Orphanet:93322	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	223358	\N	\N	EFO	1	EFO	Hemimelia	Tibial hemimelia
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	579873	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Tibial hemimelia
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	1163636	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Tibial hemimelia
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	1163637	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Tibial hemimelia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	2047392	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Tibial hemimelia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	2047393	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Tibial hemimelia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	3197416	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Tibial hemimelia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	3197417	\N	\N	EFO	5	EFO	Rare genetic bone disease	Tibial hemimelia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	3197418	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Tibial hemimelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	5418771	\N	\N	EFO	7	EFO	genetic disorder	Tibial hemimelia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	4402861	\N	\N	EFO	6	EFO	genetic disorder	Tibial hemimelia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	4402862	\N	\N	EFO	6	EFO	bone disease	Tibial hemimelia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	4402863	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Tibial hemimelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	5998923	\N	\N	EFO	8	EFO	disease	Tibial hemimelia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	5418770	\N	\N	EFO	7	EFO	skeletal system disease	Tibial hemimelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	6551924	\N	\N	EFO	9	EFO	disposition	Tibial hemimelia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	6153215	\N	\N	EFO	8	EFO	disease	Tibial hemimelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	6889580	\N	\N	EFO	10	EFO	material property	Tibial hemimelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93322	"Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." []	7086069	\N	\N	EFO	11	EFO	experimental factor	Tibial hemimelia
Orphanet:93323	\N	\N	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	78497	\N	\N	EFO	0	EFO	Fibular hemimelia	Fibular hemimelia
Orphanet:2130	Orphanet:93323	\N	"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	223359	\N	\N	EFO	1	EFO	Hemimelia	Fibular hemimelia
Orphanet:93457	Orphanet:2130	\N	"" []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	579874	\N	\N	EFO	2	EFO	Non-syndromic limb reduction defect	Fibular hemimelia
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	1163638	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Fibular hemimelia
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	1163639	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Fibular hemimelia
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	2047394	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Fibular hemimelia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	2047395	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Fibular hemimelia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	3197419	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Fibular hemimelia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	3197420	\N	\N	EFO	5	EFO	Rare genetic bone disease	Fibular hemimelia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	3197421	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Fibular hemimelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	5418774	\N	\N	EFO	7	EFO	genetic disorder	Fibular hemimelia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	4402865	\N	\N	EFO	6	EFO	genetic disorder	Fibular hemimelia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	4402866	\N	\N	EFO	6	EFO	bone disease	Fibular hemimelia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	4402867	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Fibular hemimelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	5998924	\N	\N	EFO	8	EFO	disease	Fibular hemimelia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	5418773	\N	\N	EFO	7	EFO	skeletal system disease	Fibular hemimelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	6551925	\N	\N	EFO	9	EFO	disposition	Fibular hemimelia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	6153217	\N	\N	EFO	8	EFO	disease	Fibular hemimelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	6889581	\N	\N	EFO	10	EFO	material property	Fibular hemimelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93323	"Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." []	7086070	\N	\N	EFO	11	EFO	experimental factor	Fibular hemimelia
Orphanet:93324	\N	\N	"" []	Orphanet:93324	"" []	78498	\N	\N	EFO	0	EFO	Autosomal recessive Kenny-Caffey syndrome	Autosomal recessive Kenny-Caffey syndrome
Orphanet:2333	Orphanet:93324	\N	"" []	Orphanet:93324	"" []	223360	\N	\N	EFO	1	EFO	Kenny-Caffey syndrome	Autosomal recessive Kenny-Caffey syndrome
Orphanet:181402	Orphanet:2333	\N	"" []	Orphanet:93324	"" []	579875	\N	\N	EFO	2	EFO	Syndrome with hypoparathyroidism	Autosomal recessive Kenny-Caffey syndrome
Orphanet:183570	Orphanet:2333	\N	"" []	Orphanet:93324	"" []	579876	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Autosomal recessive Kenny-Caffey syndrome
Orphanet:93440	Orphanet:2333	\N	"" []	Orphanet:93324	"" []	579877	\N	\N	EFO	2	EFO	Slender bone dysplasia	Autosomal recessive Kenny-Caffey syndrome
Orphanet:208593	Orphanet:181402	\N	"" []	Orphanet:93324	"" []	1163640	\N	\N	EFO	3	EFO	Genetic hypoparathyroidism	Autosomal recessive Kenny-Caffey syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:93324	"" []	1163641	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive Kenny-Caffey syndrome
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:93324	"" []	1163642	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal recessive Kenny-Caffey syndrome
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:93324	"" []	2047396	\N	\N	EFO	4	EFO	parathyroid disease	Autosomal recessive Kenny-Caffey syndrome
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:93324	"" []	2047397	\N	\N	EFO	4	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Autosomal recessive Kenny-Caffey syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93324	"" []	4402874	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive Kenny-Caffey syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93324	"" []	2047399	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal recessive Kenny-Caffey syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93324	"" []	2047400	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal recessive Kenny-Caffey syndrome
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:93324	"" []	3197422	\N	\N	EFO	5	EFO	calcium metabolic disease	Autosomal recessive Kenny-Caffey syndrome
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:93324	"" []	3197423	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Autosomal recessive Kenny-Caffey syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93324	"" []	5060340	\N	\N	EFO	7	EFO	disease	Autosomal recessive Kenny-Caffey syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93324	"" []	3197425	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive Kenny-Caffey syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93324	"" []	3197426	\N	\N	EFO	5	EFO	bone disease	Autosomal recessive Kenny-Caffey syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93324	"" []	3197427	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive Kenny-Caffey syndrome
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93324	"" []	4402868	\N	\N	EFO	6	EFO	metabolic disease	Autosomal recessive Kenny-Caffey syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93324	"" []	4402869	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive Kenny-Caffey syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:93324	"" []	4402870	\N	\N	EFO	6	EFO	endocrine system disease	Autosomal recessive Kenny-Caffey syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93324	"" []	5877860	\N	\N	EFO	8	EFO	disposition	Autosomal recessive Kenny-Caffey syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93324	"" []	4402873	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal recessive Kenny-Caffey syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93324	"" []	5418775	\N	\N	EFO	7	EFO	disease	Autosomal recessive Kenny-Caffey syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93324	"" []	5418776	\N	\N	EFO	7	EFO	disease	Autosomal recessive Kenny-Caffey syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93324	"" []	6471081	\N	\N	EFO	9	EFO	material property	Autosomal recessive Kenny-Caffey syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93324	"" []	5418778	\N	\N	EFO	7	EFO	disease	Autosomal recessive Kenny-Caffey syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93324	"" []	6848885	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive Kenny-Caffey syndrome
Orphanet:93325	\N	\N	"" []	Orphanet:93325	"" []	78499	\N	\N	EFO	0	EFO	Autosomal dominant Kenny-Caffey syndrome	Autosomal dominant Kenny-Caffey syndrome
Orphanet:2333	Orphanet:93325	\N	"" []	Orphanet:93325	"" []	223361	\N	\N	EFO	1	EFO	Kenny-Caffey syndrome	Autosomal dominant Kenny-Caffey syndrome
Orphanet:181402	Orphanet:2333	\N	"" []	Orphanet:93325	"" []	579878	\N	\N	EFO	2	EFO	Syndrome with hypoparathyroidism	Autosomal dominant Kenny-Caffey syndrome
Orphanet:183570	Orphanet:2333	\N	"" []	Orphanet:93325	"" []	579879	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Autosomal dominant Kenny-Caffey syndrome
Orphanet:93440	Orphanet:2333	\N	"" []	Orphanet:93325	"" []	579880	\N	\N	EFO	2	EFO	Slender bone dysplasia	Autosomal dominant Kenny-Caffey syndrome
Orphanet:208593	Orphanet:181402	\N	"" []	Orphanet:93325	"" []	1163643	\N	\N	EFO	3	EFO	Genetic hypoparathyroidism	Autosomal dominant Kenny-Caffey syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:93325	"" []	1163644	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant Kenny-Caffey syndrome
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:93325	"" []	1163645	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal dominant Kenny-Caffey syndrome
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:93325	"" []	2047401	\N	\N	EFO	4	EFO	parathyroid disease	Autosomal dominant Kenny-Caffey syndrome
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:93325	"" []	2047402	\N	\N	EFO	4	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Autosomal dominant Kenny-Caffey syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93325	"" []	4402881	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Kenny-Caffey syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93325	"" []	2047404	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal dominant Kenny-Caffey syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93325	"" []	2047405	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal dominant Kenny-Caffey syndrome
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:93325	"" []	3197428	\N	\N	EFO	5	EFO	calcium metabolic disease	Autosomal dominant Kenny-Caffey syndrome
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:93325	"" []	3197429	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Autosomal dominant Kenny-Caffey syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93325	"" []	5060341	\N	\N	EFO	7	EFO	disease	Autosomal dominant Kenny-Caffey syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93325	"" []	3197431	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant Kenny-Caffey syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93325	"" []	3197432	\N	\N	EFO	5	EFO	bone disease	Autosomal dominant Kenny-Caffey syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93325	"" []	3197433	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant Kenny-Caffey syndrome
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93325	"" []	4402875	\N	\N	EFO	6	EFO	metabolic disease	Autosomal dominant Kenny-Caffey syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93325	"" []	4402876	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Kenny-Caffey syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:93325	"" []	4402877	\N	\N	EFO	6	EFO	endocrine system disease	Autosomal dominant Kenny-Caffey syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93325	"" []	5877861	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Kenny-Caffey syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93325	"" []	4402880	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal dominant Kenny-Caffey syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93325	"" []	5418779	\N	\N	EFO	7	EFO	disease	Autosomal dominant Kenny-Caffey syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93325	"" []	5418780	\N	\N	EFO	7	EFO	disease	Autosomal dominant Kenny-Caffey syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93325	"" []	6471082	\N	\N	EFO	9	EFO	material property	Autosomal dominant Kenny-Caffey syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93325	"" []	5418782	\N	\N	EFO	7	EFO	disease	Autosomal dominant Kenny-Caffey syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93325	"" []	6848886	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Kenny-Caffey syndrome
Orphanet:93328	\N	\N	"" []	Orphanet:93328	"" []	78500	\N	\N	EFO	0	EFO	Autosomal dominant omodysplasia	Autosomal dominant omodysplasia
Orphanet:2733	Orphanet:93328	\N	"" []	Orphanet:93328	"" []	223362	\N	\N	EFO	1	EFO	Omodysplasia	Autosomal dominant omodysplasia
Orphanet:93438	Orphanet:2733	\N	"" []	Orphanet:93328	"" []	579881	\N	\N	EFO	2	EFO	Mesomelic and rhizo-mesomelic dysplasia	Autosomal dominant omodysplasia
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:93328	"" []	1163646	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal dominant omodysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93328	"" []	2047406	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal dominant omodysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93328	"" []	2047407	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal dominant omodysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93328	"" []	3197434	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant omodysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93328	"" []	3197435	\N	\N	EFO	5	EFO	bone disease	Autosomal dominant omodysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93328	"" []	3197436	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant omodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93328	"" []	5418785	\N	\N	EFO	7	EFO	disease	Autosomal dominant omodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93328	"" []	4402883	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal dominant omodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93328	"" []	4402884	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant omodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93328	"" []	5998927	\N	\N	EFO	8	EFO	disposition	Autosomal dominant omodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93328	"" []	5418784	\N	\N	EFO	7	EFO	disease	Autosomal dominant omodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93328	"" []	6551928	\N	\N	EFO	9	EFO	material property	Autosomal dominant omodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93328	"" []	6889582	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant omodysplasia
Orphanet:93329	\N	\N	"" []	Orphanet:93329	"" []	78501	\N	\N	EFO	0	EFO	Autosomal recessive omodysplasia	Autosomal recessive omodysplasia
Orphanet:2733	Orphanet:93329	\N	"" []	Orphanet:93329	"" []	223363	\N	\N	EFO	1	EFO	Omodysplasia	Autosomal recessive omodysplasia
Orphanet:93438	Orphanet:2733	\N	"" []	Orphanet:93329	"" []	579882	\N	\N	EFO	2	EFO	Mesomelic and rhizo-mesomelic dysplasia	Autosomal recessive omodysplasia
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:93329	"" []	1163647	\N	\N	EFO	3	EFO	Primary bone dysplasia	Autosomal recessive omodysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93329	"" []	2047408	\N	\N	EFO	4	EFO	Rare genetic bone disease	Autosomal recessive omodysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93329	"" []	2047409	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Autosomal recessive omodysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93329	"" []	3197437	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive omodysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93329	"" []	3197438	\N	\N	EFO	5	EFO	bone disease	Autosomal recessive omodysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93329	"" []	3197439	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive omodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93329	"" []	5418788	\N	\N	EFO	7	EFO	disease	Autosomal recessive omodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93329	"" []	4402886	\N	\N	EFO	6	EFO	skeletal system disease	Autosomal recessive omodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93329	"" []	4402887	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive omodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93329	"" []	5998928	\N	\N	EFO	8	EFO	disposition	Autosomal recessive omodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93329	"" []	5418787	\N	\N	EFO	7	EFO	disease	Autosomal recessive omodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93329	"" []	6551929	\N	\N	EFO	9	EFO	material property	Autosomal recessive omodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93329	"" []	6889583	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive omodysplasia
Orphanet:93333	\N	\N	"" []	Orphanet:93333	"" []	78502	\N	\N	EFO	0	EFO	Pelviscapular dysplasia	Pelviscapular dysplasia
Orphanet:404574	Orphanet:93333	\N	"" []	Orphanet:93333	"" []	223364	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Pelviscapular dysplasia
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:93333	"" []	579883	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Pelviscapular dysplasia
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:93333	"" []	579884	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Pelviscapular dysplasia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93333	"" []	1163648	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Pelviscapular dysplasia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93333	"" []	1163649	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Pelviscapular dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93333	"" []	2047410	\N	\N	EFO	4	EFO	Rare genetic bone disease	Pelviscapular dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93333	"" []	2047411	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Pelviscapular dysplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93333	"" []	2047412	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pelviscapular dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93333	"" []	3197440	\N	\N	EFO	5	EFO	genetic disorder	Pelviscapular dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93333	"" []	3197441	\N	\N	EFO	5	EFO	bone disease	Pelviscapular dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93333	"" []	3197442	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pelviscapular dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93333	"" []	4402890	\N	\N	EFO	6	EFO	genetic disorder	Pelviscapular dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93333	"" []	5183597	\N	\N	EFO	7	EFO	disease	Pelviscapular dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93333	"" []	4402889	\N	\N	EFO	6	EFO	skeletal system disease	Pelviscapular dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93333	"" []	5998929	\N	\N	EFO	8	EFO	disposition	Pelviscapular dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93333	"" []	5418790	\N	\N	EFO	7	EFO	disease	Pelviscapular dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93333	"" []	6551930	\N	\N	EFO	9	EFO	material property	Pelviscapular dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93333	"" []	6889584	\N	\N	EFO	10	EFO	experimental factor	Pelviscapular dysplasia
Orphanet:93334	\N	\N	"" []	Orphanet:93334	"" []	78503	\N	\N	EFO	0	EFO	Postaxial polydactyly type A	Postaxial polydactyly type A
Orphanet:294942	Orphanet:93334	\N	"" []	Orphanet:93334	"" []	223365	\N	\N	EFO	1	EFO	Postaxial polydactyly of fingers	Postaxial polydactyly type A
Orphanet:2913	Orphanet:294942	\N	"" []	Orphanet:93334	"" []	579885	\N	\N	EFO	2	EFO	Polydactyly	Postaxial polydactyly type A
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:93334	"" []	1163650	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Postaxial polydactyly type A
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:93334	"" []	2047413	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Postaxial polydactyly type A
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:93334	"" []	2047414	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial polydactyly type A
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93334	"" []	3197444	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Postaxial polydactyly type A
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93334	"" []	3197445	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Postaxial polydactyly type A
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93334	"" []	4402891	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly type A
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93334	"" []	4402892	\N	\N	EFO	6	EFO	Rare genetic bone disease	Postaxial polydactyly type A
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93334	"" []	4402893	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Postaxial polydactyly type A
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93334	"" []	6153225	\N	\N	EFO	8	EFO	genetic disorder	Postaxial polydactyly type A
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93334	"" []	5418792	\N	\N	EFO	7	EFO	genetic disorder	Postaxial polydactyly type A
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93334	"" []	5418793	\N	\N	EFO	7	EFO	bone disease	Postaxial polydactyly type A
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93334	"" []	5418794	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly type A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93334	"" []	6551931	\N	\N	EFO	9	EFO	disease	Postaxial polydactyly type A
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93334	"" []	6153224	\N	\N	EFO	8	EFO	skeletal system disease	Postaxial polydactyly type A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93334	"" []	6889585	\N	\N	EFO	10	EFO	disposition	Postaxial polydactyly type A
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93334	"" []	6634320	\N	\N	EFO	9	EFO	disease	Postaxial polydactyly type A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93334	"" []	7086071	\N	\N	EFO	11	EFO	material property	Postaxial polydactyly type A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93334	"" []	7204422	\N	\N	EFO	12	EFO	experimental factor	Postaxial polydactyly type A
Orphanet:93335	\N	\N	"" []	Orphanet:93335	"" []	78504	\N	\N	EFO	0	EFO	Postaxial polydactyly type B	Postaxial polydactyly type B
Orphanet:294942	Orphanet:93335	\N	"" []	Orphanet:93335	"" []	223366	\N	\N	EFO	1	EFO	Postaxial polydactyly of fingers	Postaxial polydactyly type B
Orphanet:2913	Orphanet:294942	\N	"" []	Orphanet:93335	"" []	579886	\N	\N	EFO	2	EFO	Polydactyly	Postaxial polydactyly type B
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:93335	"" []	1163651	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Postaxial polydactyly type B
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:93335	"" []	2047415	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Postaxial polydactyly type B
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:93335	"" []	2047416	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Postaxial polydactyly type B
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93335	"" []	3197446	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Postaxial polydactyly type B
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93335	"" []	3197447	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Postaxial polydactyly type B
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93335	"" []	4402894	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly type B
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93335	"" []	4402895	\N	\N	EFO	6	EFO	Rare genetic bone disease	Postaxial polydactyly type B
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93335	"" []	4402896	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Postaxial polydactyly type B
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93335	"" []	6153228	\N	\N	EFO	8	EFO	genetic disorder	Postaxial polydactyly type B
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93335	"" []	5418796	\N	\N	EFO	7	EFO	genetic disorder	Postaxial polydactyly type B
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93335	"" []	5418797	\N	\N	EFO	7	EFO	bone disease	Postaxial polydactyly type B
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93335	"" []	5418798	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Postaxial polydactyly type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93335	"" []	6551932	\N	\N	EFO	9	EFO	disease	Postaxial polydactyly type B
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93335	"" []	6153227	\N	\N	EFO	8	EFO	skeletal system disease	Postaxial polydactyly type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93335	"" []	6889586	\N	\N	EFO	10	EFO	disposition	Postaxial polydactyly type B
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93335	"" []	6634322	\N	\N	EFO	9	EFO	disease	Postaxial polydactyly type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93335	"" []	7086072	\N	\N	EFO	11	EFO	material property	Postaxial polydactyly type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93335	"" []	7204423	\N	\N	EFO	12	EFO	experimental factor	Postaxial polydactyly type B
Orphanet:93336	\N	\N	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	78505	\N	\N	EFO	0	EFO	Polydactyly of a triphalangeal thumb	Polydactyly of a triphalangeal thumb
Orphanet:294939	Orphanet:93336	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	223367	\N	\N	EFO	1	EFO	Preaxial polydactyly of fingers	Polydactyly of a triphalangeal thumb
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	579887	\N	\N	EFO	2	EFO	Polydactyly	Polydactyly of a triphalangeal thumb
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	1163652	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polydactyly of a triphalangeal thumb
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	2047417	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Polydactyly of a triphalangeal thumb
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	2047418	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polydactyly of a triphalangeal thumb
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	3197448	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Polydactyly of a triphalangeal thumb
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	3197449	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Polydactyly of a triphalangeal thumb
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	4402897	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of a triphalangeal thumb
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	4402898	\N	\N	EFO	6	EFO	Rare genetic bone disease	Polydactyly of a triphalangeal thumb
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	4402899	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Polydactyly of a triphalangeal thumb
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	6153231	\N	\N	EFO	8	EFO	genetic disorder	Polydactyly of a triphalangeal thumb
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	5418800	\N	\N	EFO	7	EFO	genetic disorder	Polydactyly of a triphalangeal thumb
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	5418801	\N	\N	EFO	7	EFO	bone disease	Polydactyly of a triphalangeal thumb
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	5418802	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of a triphalangeal thumb
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	6551933	\N	\N	EFO	9	EFO	disease	Polydactyly of a triphalangeal thumb
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	6153230	\N	\N	EFO	8	EFO	skeletal system disease	Polydactyly of a triphalangeal thumb
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	6889587	\N	\N	EFO	10	EFO	disposition	Polydactyly of a triphalangeal thumb
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	6634324	\N	\N	EFO	9	EFO	disease	Polydactyly of a triphalangeal thumb
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	7086073	\N	\N	EFO	11	EFO	material property	Polydactyly of a triphalangeal thumb
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93336	"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." []	7204424	\N	\N	EFO	12	EFO	experimental factor	Polydactyly of a triphalangeal thumb
Orphanet:93337	\N	\N	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	78506	\N	\N	EFO	0	EFO	Polydactyly of an index finger	Polydactyly of an index finger
Orphanet:294939	Orphanet:93337	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	223368	\N	\N	EFO	1	EFO	Preaxial polydactyly of fingers	Polydactyly of an index finger
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	579888	\N	\N	EFO	2	EFO	Polydactyly	Polydactyly of an index finger
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	1163653	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polydactyly of an index finger
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	2047419	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Polydactyly of an index finger
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	2047420	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polydactyly of an index finger
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	3197450	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Polydactyly of an index finger
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	3197451	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Polydactyly of an index finger
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	4402900	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of an index finger
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	4402901	\N	\N	EFO	6	EFO	Rare genetic bone disease	Polydactyly of an index finger
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	4402902	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Polydactyly of an index finger
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	6153234	\N	\N	EFO	8	EFO	genetic disorder	Polydactyly of an index finger
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	5418804	\N	\N	EFO	7	EFO	genetic disorder	Polydactyly of an index finger
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	5418805	\N	\N	EFO	7	EFO	bone disease	Polydactyly of an index finger
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	5418806	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of an index finger
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	6551934	\N	\N	EFO	9	EFO	disease	Polydactyly of an index finger
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	6153233	\N	\N	EFO	8	EFO	skeletal system disease	Polydactyly of an index finger
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	6889588	\N	\N	EFO	10	EFO	disposition	Polydactyly of an index finger
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	6634326	\N	\N	EFO	9	EFO	disease	Polydactyly of an index finger
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	7086074	\N	\N	EFO	11	EFO	material property	Polydactyly of an index finger
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93337	"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." []	7204425	\N	\N	EFO	12	EFO	experimental factor	Polydactyly of an index finger
Orphanet:93338	\N	\N	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	78507	\N	\N	EFO	0	EFO	Polysyndactyly	Polysyndactyly
Orphanet:294939	Orphanet:93338	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	223369	\N	\N	EFO	1	EFO	Preaxial polydactyly of fingers	Polysyndactyly
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	579889	\N	\N	EFO	2	EFO	Polydactyly	Polysyndactyly
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	1163654	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polysyndactyly
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	2047421	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Polysyndactyly
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	2047422	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polysyndactyly
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	3197452	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Polysyndactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	3197453	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Polysyndactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	4402903	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Polysyndactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	4402904	\N	\N	EFO	6	EFO	Rare genetic bone disease	Polysyndactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	4402905	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Polysyndactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	6153237	\N	\N	EFO	8	EFO	genetic disorder	Polysyndactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	5418808	\N	\N	EFO	7	EFO	genetic disorder	Polysyndactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	5418809	\N	\N	EFO	7	EFO	bone disease	Polysyndactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	5418810	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Polysyndactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	6551935	\N	\N	EFO	9	EFO	disease	Polysyndactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	6153236	\N	\N	EFO	8	EFO	skeletal system disease	Polysyndactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	6889589	\N	\N	EFO	10	EFO	disposition	Polysyndactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	6634328	\N	\N	EFO	9	EFO	disease	Polysyndactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	7086075	\N	\N	EFO	11	EFO	material property	Polysyndactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93338	"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." []	7204426	\N	\N	EFO	12	EFO	experimental factor	Polysyndactyly
Orphanet:93339	\N	\N	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	78508	\N	\N	EFO	0	EFO	Polydactyly of a biphalangeal thumb	Polydactyly of a biphalangeal thumb
Orphanet:294939	Orphanet:93339	\N	"Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	223370	\N	\N	EFO	1	EFO	Preaxial polydactyly of fingers	Polydactyly of a biphalangeal thumb
Orphanet:2913	Orphanet:294939	\N	"" []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	579890	\N	\N	EFO	2	EFO	Polydactyly	Polydactyly of a biphalangeal thumb
Orphanet:93458	Orphanet:2913	\N	"" []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	1163655	\N	\N	EFO	3	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Polydactyly of a biphalangeal thumb
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	2047423	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Polydactyly of a biphalangeal thumb
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	2047424	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Polydactyly of a biphalangeal thumb
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	3197454	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Polydactyly of a biphalangeal thumb
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	3197455	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Polydactyly of a biphalangeal thumb
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	4402906	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of a biphalangeal thumb
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	4402907	\N	\N	EFO	6	EFO	Rare genetic bone disease	Polydactyly of a biphalangeal thumb
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	4402908	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Polydactyly of a biphalangeal thumb
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	6153240	\N	\N	EFO	8	EFO	genetic disorder	Polydactyly of a biphalangeal thumb
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	5418812	\N	\N	EFO	7	EFO	genetic disorder	Polydactyly of a biphalangeal thumb
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	5418813	\N	\N	EFO	7	EFO	bone disease	Polydactyly of a biphalangeal thumb
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	5418814	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Polydactyly of a biphalangeal thumb
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	6551936	\N	\N	EFO	9	EFO	disease	Polydactyly of a biphalangeal thumb
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	6153239	\N	\N	EFO	8	EFO	skeletal system disease	Polydactyly of a biphalangeal thumb
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	6889590	\N	\N	EFO	10	EFO	disposition	Polydactyly of a biphalangeal thumb
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	6634330	\N	\N	EFO	9	EFO	disease	Polydactyly of a biphalangeal thumb
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	7086076	\N	\N	EFO	11	EFO	material property	Polydactyly of a biphalangeal thumb
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93339	"Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." []	7204427	\N	\N	EFO	12	EFO	experimental factor	Polydactyly of a biphalangeal thumb
Orphanet:93346	\N	\N	"" []	Orphanet:93346	"" []	78509	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Orphanet:253	Orphanet:93346	\N	"" []	Orphanet:93346	"" []	223371	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Orphanet:93421	Orphanet:93346	\N	"" []	Orphanet:93346	"" []	223372	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93346	"" []	579891	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:93346	"" []	579892	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93346	"" []	1163656	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93346	"" []	1163657	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93346	"" []	1163658	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93346	"" []	2047425	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93346	"" []	2047426	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93346	"" []	2047427	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93346	"" []	4402911	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93346	"" []	3197457	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93346	"" []	3197458	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93346	"" []	5183598	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93346	"" []	4402910	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93346	"" []	5998930	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93346	"" []	6551937	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Orphanet:93347	\N	\N	"" []	Orphanet:93347	"" []	78510	\N	\N	EFO	0	EFO	Anauxetic dysplasia	Anauxetic dysplasia
Orphanet:253	Orphanet:93347	\N	"" []	Orphanet:93347	"" []	223373	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Anauxetic dysplasia
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93347	"" []	579893	\N	\N	EFO	2	EFO	Primary bone dysplasia	Anauxetic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93347	"" []	1163659	\N	\N	EFO	3	EFO	Rare genetic bone disease	Anauxetic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93347	"" []	1163660	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Anauxetic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93347	"" []	2047428	\N	\N	EFO	4	EFO	genetic disorder	Anauxetic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93347	"" []	2047429	\N	\N	EFO	4	EFO	bone disease	Anauxetic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93347	"" []	2047430	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Anauxetic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93347	"" []	4402914	\N	\N	EFO	6	EFO	disease	Anauxetic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93347	"" []	3197460	\N	\N	EFO	5	EFO	skeletal system disease	Anauxetic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93347	"" []	3197461	\N	\N	EFO	5	EFO	genetic disorder	Anauxetic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93347	"" []	5183599	\N	\N	EFO	7	EFO	disposition	Anauxetic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93347	"" []	4402913	\N	\N	EFO	6	EFO	disease	Anauxetic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93347	"" []	5998931	\N	\N	EFO	8	EFO	material property	Anauxetic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93347	"" []	6551938	\N	\N	EFO	9	EFO	experimental factor	Anauxetic dysplasia
Orphanet:93349	\N	\N	"" []	Orphanet:93349	"" []	78511	\N	\N	EFO	0	EFO	X-linked spondyloepimetaphyseal dysplasia	X-linked spondyloepimetaphyseal dysplasia
Orphanet:253	Orphanet:93349	\N	"" []	Orphanet:93349	"" []	223374	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	X-linked spondyloepimetaphyseal dysplasia
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93349	"" []	579894	\N	\N	EFO	2	EFO	Primary bone dysplasia	X-linked spondyloepimetaphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93349	"" []	1163661	\N	\N	EFO	3	EFO	Rare genetic bone disease	X-linked spondyloepimetaphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93349	"" []	1163662	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	X-linked spondyloepimetaphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93349	"" []	2047431	\N	\N	EFO	4	EFO	genetic disorder	X-linked spondyloepimetaphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93349	"" []	2047432	\N	\N	EFO	4	EFO	bone disease	X-linked spondyloepimetaphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93349	"" []	2047433	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked spondyloepimetaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93349	"" []	4402917	\N	\N	EFO	6	EFO	disease	X-linked spondyloepimetaphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93349	"" []	3197463	\N	\N	EFO	5	EFO	skeletal system disease	X-linked spondyloepimetaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93349	"" []	3197464	\N	\N	EFO	5	EFO	genetic disorder	X-linked spondyloepimetaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93349	"" []	5183600	\N	\N	EFO	7	EFO	disposition	X-linked spondyloepimetaphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93349	"" []	4402916	\N	\N	EFO	6	EFO	disease	X-linked spondyloepimetaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93349	"" []	5998932	\N	\N	EFO	8	EFO	material property	X-linked spondyloepimetaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93349	"" []	6551939	\N	\N	EFO	9	EFO	experimental factor	X-linked spondyloepimetaphyseal dysplasia
Orphanet:93351	\N	\N	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	78512	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia, Irapa type	Spondyloepimetaphyseal dysplasia, Irapa type
Orphanet:253	Orphanet:93351	\N	"" []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	223375	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia, Irapa type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	579895	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia, Irapa type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	1163663	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia, Irapa type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	1163664	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia, Irapa type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	2047434	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Irapa type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	2047435	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia, Irapa type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	2047436	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia, Irapa type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	4402920	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Irapa type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	3197466	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia, Irapa type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	3197467	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Irapa type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	5183601	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia, Irapa type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	4402919	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Irapa type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	5998933	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia, Irapa type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93351	"Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." []	6551940	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia, Irapa type
Orphanet:93352	\N	\N	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	78513	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia, Shohat type	Spondyloepimetaphyseal dysplasia, Shohat type
Orphanet:253	Orphanet:93352	\N	"" []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	223376	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia, Shohat type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	579896	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia, Shohat type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	1163665	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia, Shohat type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	1163666	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia, Shohat type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	2047437	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Shohat type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	2047438	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia, Shohat type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	2047439	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia, Shohat type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	4402923	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Shohat type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	3197469	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia, Shohat type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	3197470	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Shohat type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	5183602	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia, Shohat type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	4402922	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Shohat type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	5998934	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia, Shohat type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93352	"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." []	6551941	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia, Shohat type
Orphanet:93356	\N	\N	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	78514	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia, Missouri type	Spondyloepimetaphyseal dysplasia, Missouri type
Orphanet:253	Orphanet:93356	\N	"" []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	223377	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia, Missouri type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	579897	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia, Missouri type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	1163667	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia, Missouri type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	1163668	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia, Missouri type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	2047440	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Missouri type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	2047441	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia, Missouri type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	2047442	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia, Missouri type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	4402926	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Missouri type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	3197472	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia, Missouri type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	3197473	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Missouri type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	5183603	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia, Missouri type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	4402925	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Missouri type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	5998935	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia, Missouri type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93356	"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." []	6551942	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia, Missouri type
Orphanet:93357	\N	\N	"" []	Orphanet:93357	"" []	78515	\N	\N	EFO	0	EFO	SPONASTRIME dysplasia	SPONASTRIME dysplasia
Orphanet:253	Orphanet:93357	\N	"" []	Orphanet:93357	"" []	223378	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	SPONASTRIME dysplasia
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93357	"" []	579898	\N	\N	EFO	2	EFO	Primary bone dysplasia	SPONASTRIME dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93357	"" []	1163669	\N	\N	EFO	3	EFO	Rare genetic bone disease	SPONASTRIME dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93357	"" []	1163670	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	SPONASTRIME dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93357	"" []	2047443	\N	\N	EFO	4	EFO	genetic disorder	SPONASTRIME dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93357	"" []	2047444	\N	\N	EFO	4	EFO	bone disease	SPONASTRIME dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93357	"" []	2047445	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	SPONASTRIME dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93357	"" []	4402929	\N	\N	EFO	6	EFO	disease	SPONASTRIME dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93357	"" []	3197475	\N	\N	EFO	5	EFO	skeletal system disease	SPONASTRIME dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93357	"" []	3197476	\N	\N	EFO	5	EFO	genetic disorder	SPONASTRIME dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93357	"" []	5183604	\N	\N	EFO	7	EFO	disposition	SPONASTRIME dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93357	"" []	4402928	\N	\N	EFO	6	EFO	disease	SPONASTRIME dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93357	"" []	5998936	\N	\N	EFO	8	EFO	material property	SPONASTRIME dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93357	"" []	6551943	\N	\N	EFO	9	EFO	experimental factor	SPONASTRIME dysplasia
Orphanet:93358	\N	\N	"" []	Orphanet:93358	"" []	78516	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Orphanet:253	Orphanet:93358	\N	"" []	Orphanet:93358	"" []	223379	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93358	"" []	579899	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93358	"" []	1163671	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93358	"" []	1163672	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93358	"" []	2047446	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93358	"" []	2047447	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93358	"" []	2047448	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93358	"" []	4402932	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93358	"" []	3197478	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93358	"" []	3197479	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93358	"" []	5183605	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93358	"" []	4402931	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93358	"" []	5998937	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93358	"" []	6551944	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Orphanet:93359	\N	\N	"" []	Orphanet:93359	"" []	78517	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia with joint laxity	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:253	Orphanet:93359	\N	"" []	Orphanet:93359	"" []	223380	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:309450	Orphanet:93359	\N	"" []	Orphanet:93359	"" []	223381	\N	\N	EFO	1	EFO	Disorder of O-xylosylglycan synthesis	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:371195	Orphanet:93359	\N	"" []	Orphanet:93359	"" []	223382	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation-related bone disorder	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:371200	Orphanet:93359	\N	"" []	Orphanet:93359	"" []	223383	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with skin involvement	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93359	"" []	579900	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:309447	Orphanet:309450	\N	"" []	Orphanet:93359	"" []	579901	\N	\N	EFO	2	EFO	Disorder of protein O-glycosylation	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:364803	Orphanet:371195	\N	"" []	Orphanet:93359	"" []	579902	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:371235	Orphanet:371195	\N	"" []	Orphanet:93359	"" []	579903	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with developmental anomaly	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:79387	Orphanet:371200	\N	"" []	Orphanet:93359	"" []	579904	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93359	"" []	1163673	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93359	"" []	1163674	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:137	Orphanet:309447	\N	"" []	Orphanet:93359	"" []	1163675	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93359	"" []	1163676	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:139009	Orphanet:371235	\N	"" []	Orphanet:93359	"" []	1163677	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:93359	"" []	1163678	\N	\N	EFO	3	EFO	Rare genetic skin disease	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93359	"" []	2047449	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93359	"" []	2047450	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93359	"" []	2047451	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:93359	"" []	2047452	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:93359	"" []	2047453	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93359	"" []	2047454	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:93359	"" []	2047455	\N	\N	EFO	4	EFO	skin disease	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93359	"" []	4402935	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93359	"" []	3197481	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93359	"" []	3197482	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93359	"" []	3197483	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93359	"" []	3197484	\N	\N	EFO	5	EFO	metabolic disease	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93359	"" []	3197485	\N	\N	EFO	5	EFO	disease	Spondyloepimetaphyseal dysplasia with joint laxity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93359	"" []	5183606	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93359	"" []	4402934	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93359	"" []	4402936	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia with joint laxity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93359	"" []	5998938	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia with joint laxity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93359	"" []	6551945	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:93360	\N	\N	"" []	Orphanet:93360	"" []	78518	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia with multiple dislocations	Spondyloepimetaphyseal dysplasia with multiple dislocations
Orphanet:253	Orphanet:93360	\N	"" []	Orphanet:93360	"" []	223384	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia with multiple dislocations
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:93360	"" []	579905	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia with multiple dislocations
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93360	"" []	1163679	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia with multiple dislocations
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93360	"" []	1163680	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia with multiple dislocations
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93360	"" []	2047456	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia with multiple dislocations
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93360	"" []	2047457	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia with multiple dislocations
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93360	"" []	2047458	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia with multiple dislocations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93360	"" []	4402939	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia with multiple dislocations
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93360	"" []	3197487	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia with multiple dislocations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93360	"" []	3197488	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia with multiple dislocations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93360	"" []	5183607	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia with multiple dislocations
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93360	"" []	4402938	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia with multiple dislocations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93360	"" []	5998939	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia with multiple dislocations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93360	"" []	6551946	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia with multiple dislocations
Orphanet:93365	\N	\N	"" []	Orphanet:93365	"" []	78519	\N	\N	EFO	0	EFO	CINCA syndrome with NLRP3 mutations	CINCA syndrome with NLRP3 mutations
Orphanet:1451	Orphanet:93365	\N	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	Orphanet:93365	"" []	223385	\N	\N	EFO	1	EFO	CINCA syndrome	CINCA syndrome with NLRP3 mutations
Orphanet:208650	Orphanet:1451	\N	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	Orphanet:93365	"" []	579906	\N	\N	EFO	2	EFO	Cryopyrin-associated periodic syndrome	CINCA syndrome with NLRP3 mutations
Orphanet:290839	Orphanet:208650	\N	"" []	Orphanet:93365	"" []	1163681	\N	\N	EFO	3	EFO	Autoinflammatory syndrome with immune deficiency	CINCA syndrome with NLRP3 mutations
Orphanet:324924	Orphanet:208650	\N	"" []	Orphanet:93365	"" []	1163682	\N	\N	EFO	3	EFO	Hereditary periodic fever syndrome	CINCA syndrome with NLRP3 mutations
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:93365	"" []	2047459	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	CINCA syndrome with NLRP3 mutations
Orphanet:271870	Orphanet:324924	\N	"" []	Orphanet:93365	"" []	2047460	\N	\N	EFO	4	EFO	Rare genetic systemic or rheumatologic disease	CINCA syndrome with NLRP3 mutations
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:93365	"" []	3197489	\N	\N	EFO	5	EFO	Primary immunodeficiency	CINCA syndrome with NLRP3 mutations
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93365	"" []	3197490	\N	\N	EFO	5	EFO	genetic disorder	CINCA syndrome with NLRP3 mutations
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:93365	"" []	4402940	\N	\N	EFO	6	EFO	Rare genetic immune disease	CINCA syndrome with NLRP3 mutations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93365	"" []	6153251	\N	\N	EFO	8	EFO	disease	CINCA syndrome with NLRP3 mutations
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93365	"" []	5418825	\N	\N	EFO	7	EFO	genetic disorder	CINCA syndrome with NLRP3 mutations
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:93365	"" []	5418826	\N	\N	EFO	7	EFO	immune system disease	CINCA syndrome with NLRP3 mutations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93365	"" []	6471083	\N	\N	EFO	9	EFO	disposition	CINCA syndrome with NLRP3 mutations
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93365	"" []	6153252	\N	\N	EFO	8	EFO	disease	CINCA syndrome with NLRP3 mutations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93365	"" []	6848887	\N	\N	EFO	10	EFO	material property	CINCA syndrome with NLRP3 mutations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93365	"" []	7068546	\N	\N	EFO	11	EFO	experimental factor	CINCA syndrome with NLRP3 mutations
Orphanet:93367	\N	\N	"" []	Orphanet:93367	"" []	78520	\N	\N	EFO	0	EFO	CINCA syndrome without NLRP3 mutations	CINCA syndrome without NLRP3 mutations
Orphanet:1451	Orphanet:93367	\N	"Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." []	Orphanet:93367	"" []	223386	\N	\N	EFO	1	EFO	CINCA syndrome	CINCA syndrome without NLRP3 mutations
Orphanet:208650	Orphanet:1451	\N	"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." []	Orphanet:93367	"" []	579907	\N	\N	EFO	2	EFO	Cryopyrin-associated periodic syndrome	CINCA syndrome without NLRP3 mutations
Orphanet:290839	Orphanet:208650	\N	"" []	Orphanet:93367	"" []	1163683	\N	\N	EFO	3	EFO	Autoinflammatory syndrome with immune deficiency	CINCA syndrome without NLRP3 mutations
Orphanet:324924	Orphanet:208650	\N	"" []	Orphanet:93367	"" []	1163684	\N	\N	EFO	3	EFO	Hereditary periodic fever syndrome	CINCA syndrome without NLRP3 mutations
Orphanet:101988	Orphanet:290839	\N	"" []	Orphanet:93367	"" []	2047461	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	CINCA syndrome without NLRP3 mutations
Orphanet:271870	Orphanet:324924	\N	"" []	Orphanet:93367	"" []	2047462	\N	\N	EFO	4	EFO	Rare genetic systemic or rheumatologic disease	CINCA syndrome without NLRP3 mutations
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:93367	"" []	3197491	\N	\N	EFO	5	EFO	Primary immunodeficiency	CINCA syndrome without NLRP3 mutations
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93367	"" []	3197492	\N	\N	EFO	5	EFO	genetic disorder	CINCA syndrome without NLRP3 mutations
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:93367	"" []	4402942	\N	\N	EFO	6	EFO	Rare genetic immune disease	CINCA syndrome without NLRP3 mutations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93367	"" []	6153254	\N	\N	EFO	8	EFO	disease	CINCA syndrome without NLRP3 mutations
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93367	"" []	5418828	\N	\N	EFO	7	EFO	genetic disorder	CINCA syndrome without NLRP3 mutations
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:93367	"" []	5418829	\N	\N	EFO	7	EFO	immune system disease	CINCA syndrome without NLRP3 mutations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93367	"" []	6471084	\N	\N	EFO	9	EFO	disposition	CINCA syndrome without NLRP3 mutations
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93367	"" []	6153255	\N	\N	EFO	8	EFO	disease	CINCA syndrome without NLRP3 mutations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93367	"" []	6848888	\N	\N	EFO	10	EFO	material property	CINCA syndrome without NLRP3 mutations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93367	"" []	7068547	\N	\N	EFO	11	EFO	experimental factor	CINCA syndrome without NLRP3 mutations
Orphanet:93372	\N	\N	"" []	Orphanet:93372	"" []	78521	\N	\N	EFO	0	EFO	Familial hypocalciuric hypercalcemia type 1	Familial hypocalciuric hypercalcemia type 1
Orphanet:405	Orphanet:93372	\N	"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." []	Orphanet:93372	"" []	223387	\N	\N	EFO	1	EFO	Familial hypocalciuric hypercalcemia	Familial hypocalciuric hypercalcemia type 1
EFO:0005769	Orphanet:405	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:93372	"" []	579908	\N	\N	EFO	2	EFO	calcium metabolic disease	Familial hypocalciuric hypercalcemia type 1
Orphanet:183634	Orphanet:405	\N	"" []	Orphanet:93372	"" []	579909	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Familial hypocalciuric hypercalcemia type 1
Orphanet:93447	Orphanet:405	\N	"" []	Orphanet:93372	"" []	579910	\N	\N	EFO	2	EFO	Primary bone dysplasia with defective bone mineralization	Familial hypocalciuric hypercalcemia type 1
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93372	"" []	1163685	\N	\N	EFO	3	EFO	metabolic disease	Familial hypocalciuric hypercalcemia type 1
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:93372	"" []	1163686	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial hypocalciuric hypercalcemia type 1
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:93372	"" []	1163687	\N	\N	EFO	3	EFO	Primary bone dysplasia	Familial hypocalciuric hypercalcemia type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93372	"" []	2047463	\N	\N	EFO	4	EFO	disease	Familial hypocalciuric hypercalcemia type 1
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93372	"" []	2047464	\N	\N	EFO	4	EFO	genetic disorder	Familial hypocalciuric hypercalcemia type 1
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:93372	"" []	2047465	\N	\N	EFO	4	EFO	endocrine system disease	Familial hypocalciuric hypercalcemia type 1
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93372	"" []	2047466	\N	\N	EFO	4	EFO	Rare genetic bone disease	Familial hypocalciuric hypercalcemia type 1
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93372	"" []	2047467	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Familial hypocalciuric hypercalcemia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93372	"" []	5877863	\N	\N	EFO	8	EFO	disposition	Familial hypocalciuric hypercalcemia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93372	"" []	5418833	\N	\N	EFO	7	EFO	disease	Familial hypocalciuric hypercalcemia type 1
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93372	"" []	3197495	\N	\N	EFO	5	EFO	disease	Familial hypocalciuric hypercalcemia type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93372	"" []	3197496	\N	\N	EFO	5	EFO	genetic disorder	Familial hypocalciuric hypercalcemia type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93372	"" []	3197497	\N	\N	EFO	5	EFO	bone disease	Familial hypocalciuric hypercalcemia type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93372	"" []	3197498	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Familial hypocalciuric hypercalcemia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93372	"" []	6410418	\N	\N	EFO	9	EFO	material property	Familial hypocalciuric hypercalcemia type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93372	"" []	4402947	\N	\N	EFO	6	EFO	skeletal system disease	Familial hypocalciuric hypercalcemia type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93372	"" []	4402948	\N	\N	EFO	6	EFO	genetic disorder	Familial hypocalciuric hypercalcemia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93372	"" []	6808219	\N	\N	EFO	10	EFO	experimental factor	Familial hypocalciuric hypercalcemia type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93372	"" []	5418832	\N	\N	EFO	7	EFO	disease	Familial hypocalciuric hypercalcemia type 1
Orphanet:93382	\N	\N	"" []	Orphanet:93382	"" []	78522	\N	\N	EFO	0	EFO	Brachydactyly type A6	Brachydactyly type A6
Orphanet:69028	Orphanet:93382	\N	"" []	Orphanet:93382	"" []	223388	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly type A6
Orphanet:93437	Orphanet:93382	\N	"" []	Orphanet:93382	"" []	223389	\N	\N	EFO	1	EFO	Acromesomelic dysplasia	Brachydactyly type A6
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:93382	"" []	579911	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly type A6
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:93382	"" []	579912	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly type A6
Orphanet:364526	Orphanet:93437	\N	"" []	Orphanet:93382	"" []	579913	\N	\N	EFO	2	EFO	Primary bone dysplasia	Brachydactyly type A6
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93382	"" []	1163688	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly type A6
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93382	"" []	1163689	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly type A6
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93382	"" []	1163690	\N	\N	EFO	3	EFO	Rare genetic bone disease	Brachydactyly type A6
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93382	"" []	1163691	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Brachydactyly type A6
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93382	"" []	2047468	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly type A6
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93382	"" []	2047469	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly type A6
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93382	"" []	2047470	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type A6
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93382	"" []	3197499	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly type A6
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93382	"" []	3197500	\N	\N	EFO	5	EFO	bone disease	Brachydactyly type A6
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93382	"" []	3197501	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type A6
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93382	"" []	4134501	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly type A6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93382	"" []	5183610	\N	\N	EFO	7	EFO	disease	Brachydactyly type A6
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93382	"" []	4134500	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly type A6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93382	"" []	5877864	\N	\N	EFO	8	EFO	disposition	Brachydactyly type A6
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93382	"" []	5183612	\N	\N	EFO	7	EFO	disease	Brachydactyly type A6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93382	"" []	6471086	\N	\N	EFO	9	EFO	material property	Brachydactyly type A6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93382	"" []	6848889	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly type A6
Orphanet:93383	\N	\N	"" []	Orphanet:93383	"" []	78523	\N	\N	EFO	0	EFO	Brachydactyly type B	Brachydactyly type B
Orphanet:69028	Orphanet:93383	\N	"" []	Orphanet:93383	"" []	223390	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly type B
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:93383	"" []	579914	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly type B
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:93383	"" []	579915	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly type B
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93383	"" []	1163692	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly type B
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93383	"" []	1163693	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly type B
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93383	"" []	2047474	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly type B
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93383	"" []	2047475	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly type B
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93383	"" []	2047476	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type B
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93383	"" []	3197505	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly type B
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93383	"" []	3197506	\N	\N	EFO	5	EFO	bone disease	Brachydactyly type B
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93383	"" []	3197507	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type B
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93383	"" []	4402953	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93383	"" []	5183613	\N	\N	EFO	7	EFO	disease	Brachydactyly type B
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93383	"" []	4402952	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93383	"" []	5998942	\N	\N	EFO	8	EFO	disposition	Brachydactyly type B
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93383	"" []	5418836	\N	\N	EFO	7	EFO	disease	Brachydactyly type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93383	"" []	6551948	\N	\N	EFO	9	EFO	material property	Brachydactyly type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93383	"" []	6889591	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly type B
Orphanet:93384	\N	\N	"" []	Orphanet:93384	"" []	78524	\N	\N	EFO	0	EFO	Brachydactyly type C	Brachydactyly type C
Orphanet:69028	Orphanet:93384	\N	"" []	Orphanet:93384	"" []	223391	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly type C
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:93384	"" []	579916	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly type C
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:93384	"" []	579917	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly type C
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93384	"" []	1163694	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly type C
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93384	"" []	1163695	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly type C
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93384	"" []	2047477	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly type C
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93384	"" []	2047478	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly type C
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93384	"" []	2047479	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type C
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93384	"" []	3197509	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly type C
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93384	"" []	3197510	\N	\N	EFO	5	EFO	bone disease	Brachydactyly type C
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93384	"" []	3197511	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type C
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93384	"" []	4402956	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly type C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93384	"" []	5183614	\N	\N	EFO	7	EFO	disease	Brachydactyly type C
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93384	"" []	4402955	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly type C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93384	"" []	5998943	\N	\N	EFO	8	EFO	disposition	Brachydactyly type C
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93384	"" []	5418838	\N	\N	EFO	7	EFO	disease	Brachydactyly type C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93384	"" []	6551949	\N	\N	EFO	9	EFO	material property	Brachydactyly type C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93384	"" []	6889592	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly type C
Orphanet:93387	\N	\N	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	78525	\N	\N	EFO	0	EFO	Brachydactyly type E	Brachydactyly type E
Orphanet:69028	Orphanet:93387	\N	"" []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	223392	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly type E
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	579918	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly type E
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	579919	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly type E
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	1163696	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly type E
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	1163697	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly type E
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	2047480	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly type E
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	2047481	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly type E
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	2047482	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type E
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	3197513	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly type E
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	3197514	\N	\N	EFO	5	EFO	bone disease	Brachydactyly type E
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	3197515	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type E
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	4402959	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly type E
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	5183615	\N	\N	EFO	7	EFO	disease	Brachydactyly type E
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	4402958	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly type E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	5998944	\N	\N	EFO	8	EFO	disposition	Brachydactyly type E
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	5418840	\N	\N	EFO	7	EFO	disease	Brachydactyly type E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	6551950	\N	\N	EFO	9	EFO	material property	Brachydactyly type E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93387	"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." []	6889593	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly type E
Orphanet:93388	\N	\N	"" []	Orphanet:93388	"" []	78526	\N	\N	EFO	0	EFO	Brachydactyly type A1	Brachydactyly type A1
Orphanet:69028	Orphanet:93388	\N	"" []	Orphanet:93388	"" []	223393	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly type A1
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:93388	"" []	579920	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly type A1
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:93388	"" []	579921	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly type A1
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93388	"" []	1163698	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly type A1
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93388	"" []	1163699	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly type A1
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93388	"" []	2047483	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly type A1
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93388	"" []	2047484	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly type A1
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93388	"" []	2047485	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type A1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93388	"" []	3197517	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly type A1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93388	"" []	3197518	\N	\N	EFO	5	EFO	bone disease	Brachydactyly type A1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93388	"" []	3197519	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type A1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93388	"" []	4402962	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly type A1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93388	"" []	5183616	\N	\N	EFO	7	EFO	disease	Brachydactyly type A1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93388	"" []	4402961	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly type A1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93388	"" []	5998945	\N	\N	EFO	8	EFO	disposition	Brachydactyly type A1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93388	"" []	5418842	\N	\N	EFO	7	EFO	disease	Brachydactyly type A1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93388	"" []	6551951	\N	\N	EFO	9	EFO	material property	Brachydactyly type A1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93388	"" []	6889594	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly type A1
Orphanet:93389	\N	\N	"" []	Orphanet:93389	"" []	78527	\N	\N	EFO	0	EFO	Brachydactyly type A5	Brachydactyly type A5
Orphanet:69028	Orphanet:93389	\N	"" []	Orphanet:93389	"" []	223394	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly type A5
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:93389	"" []	579922	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly type A5
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:93389	"" []	579923	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly type A5
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93389	"" []	1163700	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly type A5
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93389	"" []	1163701	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly type A5
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93389	"" []	2047486	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly type A5
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93389	"" []	2047487	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly type A5
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93389	"" []	2047488	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type A5
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93389	"" []	3197521	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly type A5
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93389	"" []	3197522	\N	\N	EFO	5	EFO	bone disease	Brachydactyly type A5
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93389	"" []	3197523	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type A5
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93389	"" []	4402965	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly type A5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93389	"" []	5183617	\N	\N	EFO	7	EFO	disease	Brachydactyly type A5
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93389	"" []	4402964	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly type A5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93389	"" []	5998946	\N	\N	EFO	8	EFO	disposition	Brachydactyly type A5
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93389	"" []	5418844	\N	\N	EFO	7	EFO	disease	Brachydactyly type A5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93389	"" []	6551952	\N	\N	EFO	9	EFO	material property	Brachydactyly type A5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93389	"" []	6889595	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly type A5
Orphanet:93394	\N	\N	"" []	Orphanet:93394	"" []	78528	\N	\N	EFO	0	EFO	Brachydactyly type A4	Brachydactyly type A4
Orphanet:69028	Orphanet:93394	\N	"" []	Orphanet:93394	"" []	223395	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly type A4
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:93394	"" []	579924	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly type A4
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:93394	"" []	579925	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly type A4
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93394	"" []	1163702	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly type A4
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93394	"" []	1163703	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly type A4
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93394	"" []	2047489	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly type A4
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93394	"" []	2047490	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly type A4
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93394	"" []	2047491	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type A4
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93394	"" []	3197525	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly type A4
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93394	"" []	3197526	\N	\N	EFO	5	EFO	bone disease	Brachydactyly type A4
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93394	"" []	3197527	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type A4
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93394	"" []	4402968	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly type A4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93394	"" []	5183618	\N	\N	EFO	7	EFO	disease	Brachydactyly type A4
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93394	"" []	4402967	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly type A4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93394	"" []	5998947	\N	\N	EFO	8	EFO	disposition	Brachydactyly type A4
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93394	"" []	5418846	\N	\N	EFO	7	EFO	disease	Brachydactyly type A4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93394	"" []	6551953	\N	\N	EFO	9	EFO	material property	Brachydactyly type A4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93394	"" []	6889596	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly type A4
Orphanet:93395	\N	\N	"" []	Orphanet:93395	"" []	78529	\N	\N	EFO	0	EFO	Ballard syndrome	Ballard syndrome
Orphanet:69028	Orphanet:93395	\N	"" []	Orphanet:93395	"" []	223396	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Ballard syndrome
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:93395	"" []	579926	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Ballard syndrome
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:93395	"" []	579927	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Ballard syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93395	"" []	1163704	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Ballard syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93395	"" []	1163705	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Ballard syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93395	"" []	2047492	\N	\N	EFO	4	EFO	Rare genetic bone disease	Ballard syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93395	"" []	2047493	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Ballard syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93395	"" []	2047494	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ballard syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93395	"" []	3197529	\N	\N	EFO	5	EFO	genetic disorder	Ballard syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93395	"" []	3197530	\N	\N	EFO	5	EFO	bone disease	Ballard syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93395	"" []	3197531	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Ballard syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93395	"" []	4402971	\N	\N	EFO	6	EFO	genetic disorder	Ballard syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93395	"" []	5183619	\N	\N	EFO	7	EFO	disease	Ballard syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93395	"" []	4402970	\N	\N	EFO	6	EFO	skeletal system disease	Ballard syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93395	"" []	5998948	\N	\N	EFO	8	EFO	disposition	Ballard syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93395	"" []	5418848	\N	\N	EFO	7	EFO	disease	Ballard syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93395	"" []	6551954	\N	\N	EFO	9	EFO	material property	Ballard syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93395	"" []	6889597	\N	\N	EFO	10	EFO	experimental factor	Ballard syndrome
Orphanet:93396	\N	\N	"" []	Orphanet:93396	"" []	78530	\N	\N	EFO	0	EFO	Brachydactyly type A2	Brachydactyly type A2
Orphanet:69028	Orphanet:93396	\N	"" []	Orphanet:93396	"" []	223397	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly type A2
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:93396	"" []	579928	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly type A2
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:93396	"" []	579929	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly type A2
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93396	"" []	1163706	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly type A2
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93396	"" []	1163707	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly type A2
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93396	"" []	2047495	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly type A2
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93396	"" []	2047496	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly type A2
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93396	"" []	2047497	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type A2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93396	"" []	3197533	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly type A2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93396	"" []	3197534	\N	\N	EFO	5	EFO	bone disease	Brachydactyly type A2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93396	"" []	3197535	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type A2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93396	"" []	4402974	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly type A2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93396	"" []	5183620	\N	\N	EFO	7	EFO	disease	Brachydactyly type A2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93396	"" []	4402973	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly type A2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93396	"" []	5998949	\N	\N	EFO	8	EFO	disposition	Brachydactyly type A2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93396	"" []	5418850	\N	\N	EFO	7	EFO	disease	Brachydactyly type A2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93396	"" []	6551955	\N	\N	EFO	9	EFO	material property	Brachydactyly type A2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93396	"" []	6889598	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly type A2
Orphanet:93397	\N	\N	"" []	Orphanet:93397	"" []	78531	\N	\N	EFO	0	EFO	Brachydactyly type A7	Brachydactyly type A7
Orphanet:69028	Orphanet:93397	\N	"" []	Orphanet:93397	"" []	223398	\N	\N	EFO	1	EFO	Syndrome with brachydactyly	Brachydactyly type A7
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:93397	"" []	579930	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly type A7
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:93397	"" []	579931	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly type A7
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93397	"" []	1163708	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly type A7
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93397	"" []	1163709	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly type A7
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93397	"" []	2047498	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly type A7
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93397	"" []	2047499	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly type A7
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93397	"" []	2047500	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type A7
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93397	"" []	3197537	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly type A7
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93397	"" []	3197538	\N	\N	EFO	5	EFO	bone disease	Brachydactyly type A7
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93397	"" []	3197539	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly type A7
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93397	"" []	4402977	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly type A7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93397	"" []	5183621	\N	\N	EFO	7	EFO	disease	Brachydactyly type A7
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93397	"" []	4402976	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly type A7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93397	"" []	5998950	\N	\N	EFO	8	EFO	disposition	Brachydactyly type A7
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93397	"" []	5418852	\N	\N	EFO	7	EFO	disease	Brachydactyly type A7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93397	"" []	6551956	\N	\N	EFO	9	EFO	material property	Brachydactyly type A7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93397	"" []	6889599	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly type A7
Orphanet:93398	\N	\N	"" []	Orphanet:93398	"" []	78532	\N	\N	EFO	0	EFO	Genochondromatosis type 2	Genochondromatosis type 2
Orphanet:93450	Orphanet:93398	\N	"" []	Orphanet:93398	"" []	223399	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Genochondromatosis type 2
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:93398	"" []	579932	\N	\N	EFO	2	EFO	Primary bone dysplasia	Genochondromatosis type 2
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93398	"" []	1163710	\N	\N	EFO	3	EFO	Rare genetic bone disease	Genochondromatosis type 2
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93398	"" []	1163711	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Genochondromatosis type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93398	"" []	2047501	\N	\N	EFO	4	EFO	genetic disorder	Genochondromatosis type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93398	"" []	2047502	\N	\N	EFO	4	EFO	bone disease	Genochondromatosis type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93398	"" []	2047503	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Genochondromatosis type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93398	"" []	4402980	\N	\N	EFO	6	EFO	disease	Genochondromatosis type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93398	"" []	3197542	\N	\N	EFO	5	EFO	skeletal system disease	Genochondromatosis type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93398	"" []	3197543	\N	\N	EFO	5	EFO	genetic disorder	Genochondromatosis type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93398	"" []	5183622	\N	\N	EFO	7	EFO	disposition	Genochondromatosis type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93398	"" []	4402979	\N	\N	EFO	6	EFO	disease	Genochondromatosis type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93398	"" []	5998951	\N	\N	EFO	8	EFO	material property	Genochondromatosis type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93398	"" []	6551957	\N	\N	EFO	9	EFO	experimental factor	Genochondromatosis type 2
Orphanet:93399	\N	\N	"" []	Orphanet:93399	"" []	78533	\N	\N	EFO	0	EFO	Juvenile sialidosis type 2	Juvenile sialidosis type 2
Orphanet:87876	Orphanet:93399	\N	"" []	Orphanet:93399	"" []	223400	\N	\N	EFO	1	EFO	Sialidosis type 2	Juvenile sialidosis type 2
Orphanet:102283	Orphanet:87876	\N	"" []	Orphanet:93399	"" []	579933	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Juvenile sialidosis type 2
Orphanet:182073	Orphanet:87876	\N	"" []	Orphanet:93399	"" []	579934	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Juvenile sialidosis type 2
Orphanet:309294	Orphanet:87876	\N	"" []	Orphanet:93399	"" []	579935	\N	\N	EFO	2	EFO	Sialidosis	Juvenile sialidosis type 2
Orphanet:93448	Orphanet:87876	\N	"" []	Orphanet:93399	"" []	579936	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Juvenile sialidosis type 2
Orphanet:93593	Orphanet:87876	\N	"" []	Orphanet:93399	"" []	579937	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Juvenile sialidosis type 2
Orphanet:98712	Orphanet:87876	\N	"" []	Orphanet:93399	"" []	579938	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Juvenile sialidosis type 2
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93399	"" []	1163712	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Juvenile sialidosis type 2
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:93399	"" []	1163713	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Juvenile sialidosis type 2
Orphanet:79215	Orphanet:309294	\N	"" []	Orphanet:93399	"" []	1163714	\N	\N	EFO	3	EFO	Oligosaccharidosis	Juvenile sialidosis type 2
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:93399	"" []	1163715	\N	\N	EFO	3	EFO	Rare genetic bone disease	Juvenile sialidosis type 2
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:93399	"" []	1163716	\N	\N	EFO	3	EFO	Rare genetic renal disease	Juvenile sialidosis type 2
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:93399	"" []	1163717	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Juvenile sialidosis type 2
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93399	"" []	2047504	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Juvenile sialidosis type 2
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93399	"" []	2047505	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Juvenile sialidosis type 2
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:93399	"" []	2047506	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Juvenile sialidosis type 2
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:93399	"" []	2047507	\N	\N	EFO	4	EFO	Glycoproteinosis	Juvenile sialidosis type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93399	"" []	2047508	\N	\N	EFO	4	EFO	genetic disorder	Juvenile sialidosis type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93399	"" []	2047509	\N	\N	EFO	4	EFO	bone disease	Juvenile sialidosis type 2
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93399	"" []	2047510	\N	\N	EFO	4	EFO	genetic disorder	Juvenile sialidosis type 2
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:93399	"" []	2047511	\N	\N	EFO	4	EFO	Rare genetic eye disease	Juvenile sialidosis type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93399	"" []	4402983	\N	\N	EFO	6	EFO	genetic disorder	Juvenile sialidosis type 2
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93399	"" []	3197545	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Juvenile sialidosis type 2
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:93399	"" []	3197546	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Juvenile sialidosis type 2
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:93399	"" []	3197547	\N	\N	EFO	5	EFO	Lysosomal disease	Juvenile sialidosis type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93399	"" []	6153268	\N	\N	EFO	8	EFO	disease	Juvenile sialidosis type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93399	"" []	3197549	\N	\N	EFO	5	EFO	skeletal system disease	Juvenile sialidosis type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93399	"" []	3197550	\N	\N	EFO	5	EFO	genetic disorder	Juvenile sialidosis type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93399	"" []	3197551	\N	\N	EFO	5	EFO	eye disease	Juvenile sialidosis type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93399	"" []	4402982	\N	\N	EFO	6	EFO	genetic disorder	Juvenile sialidosis type 2
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:93399	"" []	4402984	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Juvenile sialidosis type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93399	"" []	6410419	\N	\N	EFO	9	EFO	disposition	Juvenile sialidosis type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93399	"" []	4402986	\N	\N	EFO	6	EFO	disease	Juvenile sialidosis type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93399	"" []	4402987	\N	\N	EFO	6	EFO	disease	Juvenile sialidosis type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93399	"" []	5418854	\N	\N	EFO	7	EFO	genetic disorder	Juvenile sialidosis type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93399	"" []	5418855	\N	\N	EFO	7	EFO	metabolic disease	Juvenile sialidosis type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93399	"" []	6808220	\N	\N	EFO	10	EFO	material property	Juvenile sialidosis type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93399	"" []	6153269	\N	\N	EFO	8	EFO	disease	Juvenile sialidosis type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93399	"" []	7048839	\N	\N	EFO	11	EFO	experimental factor	Juvenile sialidosis type 2
Orphanet:93400	\N	\N	"" []	Orphanet:93400	"" []	78534	\N	\N	EFO	0	EFO	Congenital sialidosis type 2	Congenital sialidosis type 2
Orphanet:87876	Orphanet:93400	\N	"" []	Orphanet:93400	"" []	223401	\N	\N	EFO	1	EFO	Sialidosis type 2	Congenital sialidosis type 2
Orphanet:102283	Orphanet:87876	\N	"" []	Orphanet:93400	"" []	579939	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Congenital sialidosis type 2
Orphanet:182073	Orphanet:87876	\N	"" []	Orphanet:93400	"" []	579940	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Congenital sialidosis type 2
Orphanet:309294	Orphanet:87876	\N	"" []	Orphanet:93400	"" []	579941	\N	\N	EFO	2	EFO	Sialidosis	Congenital sialidosis type 2
Orphanet:93448	Orphanet:87876	\N	"" []	Orphanet:93400	"" []	579942	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Congenital sialidosis type 2
Orphanet:93593	Orphanet:87876	\N	"" []	Orphanet:93400	"" []	579943	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Congenital sialidosis type 2
Orphanet:98712	Orphanet:87876	\N	"" []	Orphanet:93400	"" []	579944	\N	\N	EFO	2	EFO	Metabolic disease with cataract	Congenital sialidosis type 2
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93400	"" []	1163718	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Congenital sialidosis type 2
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:93400	"" []	1163719	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Congenital sialidosis type 2
Orphanet:79215	Orphanet:309294	\N	"" []	Orphanet:93400	"" []	1163720	\N	\N	EFO	3	EFO	Oligosaccharidosis	Congenital sialidosis type 2
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:93400	"" []	1163721	\N	\N	EFO	3	EFO	Rare genetic bone disease	Congenital sialidosis type 2
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:93400	"" []	1163722	\N	\N	EFO	3	EFO	Rare genetic renal disease	Congenital sialidosis type 2
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:93400	"" []	1163723	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Congenital sialidosis type 2
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93400	"" []	2047512	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital sialidosis type 2
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93400	"" []	2047513	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Congenital sialidosis type 2
Orphanet:139009	Orphanet:79215	\N	"" []	Orphanet:93400	"" []	2047514	\N	\N	EFO	4	EFO	Developmental anomaly of metabolic origin	Congenital sialidosis type 2
Orphanet:309279	Orphanet:79215	\N	"" []	Orphanet:93400	"" []	2047515	\N	\N	EFO	4	EFO	Glycoproteinosis	Congenital sialidosis type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93400	"" []	2047516	\N	\N	EFO	4	EFO	genetic disorder	Congenital sialidosis type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93400	"" []	2047517	\N	\N	EFO	4	EFO	bone disease	Congenital sialidosis type 2
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93400	"" []	2047518	\N	\N	EFO	4	EFO	genetic disorder	Congenital sialidosis type 2
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:93400	"" []	2047519	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital sialidosis type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93400	"" []	4402990	\N	\N	EFO	6	EFO	genetic disorder	Congenital sialidosis type 2
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93400	"" []	3197553	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital sialidosis type 2
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:93400	"" []	3197554	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital sialidosis type 2
Orphanet:68366	Orphanet:309279	\N	"" []	Orphanet:93400	"" []	3197555	\N	\N	EFO	5	EFO	Lysosomal disease	Congenital sialidosis type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93400	"" []	6153271	\N	\N	EFO	8	EFO	disease	Congenital sialidosis type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93400	"" []	3197557	\N	\N	EFO	5	EFO	skeletal system disease	Congenital sialidosis type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93400	"" []	3197558	\N	\N	EFO	5	EFO	genetic disorder	Congenital sialidosis type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93400	"" []	3197559	\N	\N	EFO	5	EFO	eye disease	Congenital sialidosis type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93400	"" []	4402989	\N	\N	EFO	6	EFO	genetic disorder	Congenital sialidosis type 2
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:93400	"" []	4402991	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Congenital sialidosis type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93400	"" []	6410420	\N	\N	EFO	9	EFO	disposition	Congenital sialidosis type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93400	"" []	4402993	\N	\N	EFO	6	EFO	disease	Congenital sialidosis type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93400	"" []	4402994	\N	\N	EFO	6	EFO	disease	Congenital sialidosis type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93400	"" []	5418857	\N	\N	EFO	7	EFO	genetic disorder	Congenital sialidosis type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93400	"" []	5418858	\N	\N	EFO	7	EFO	metabolic disease	Congenital sialidosis type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93400	"" []	6808221	\N	\N	EFO	10	EFO	material property	Congenital sialidosis type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93400	"" []	6153272	\N	\N	EFO	8	EFO	disease	Congenital sialidosis type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93400	"" []	7048840	\N	\N	EFO	11	EFO	experimental factor	Congenital sialidosis type 2
Orphanet:93402	\N	\N	"" []	Orphanet:93402	"" []	78535	\N	\N	EFO	0	EFO	Syndactyly type 1	Syndactyly type 1
Orphanet:90025	Orphanet:93402	\N	"" []	Orphanet:93402	"" []	223402	\N	\N	EFO	1	EFO	Syndactyly	Syndactyly type 1
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:93402	"" []	579945	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Syndactyly type 1
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:93402	"" []	1163724	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Syndactyly type 1
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:93402	"" []	1163725	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndactyly type 1
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93402	"" []	2047520	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Syndactyly type 1
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93402	"" []	2047521	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Syndactyly type 1
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93402	"" []	3197560	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 1
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93402	"" []	3197561	\N	\N	EFO	5	EFO	Rare genetic bone disease	Syndactyly type 1
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93402	"" []	3197562	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Syndactyly type 1
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93402	"" []	5418862	\N	\N	EFO	7	EFO	genetic disorder	Syndactyly type 1
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93402	"" []	4402996	\N	\N	EFO	6	EFO	genetic disorder	Syndactyly type 1
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93402	"" []	4402997	\N	\N	EFO	6	EFO	bone disease	Syndactyly type 1
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93402	"" []	4402998	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93402	"" []	5998954	\N	\N	EFO	8	EFO	disease	Syndactyly type 1
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93402	"" []	5418861	\N	\N	EFO	7	EFO	skeletal system disease	Syndactyly type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93402	"" []	6551960	\N	\N	EFO	9	EFO	disposition	Syndactyly type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93402	"" []	6153275	\N	\N	EFO	8	EFO	disease	Syndactyly type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93402	"" []	6889600	\N	\N	EFO	10	EFO	material property	Syndactyly type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93402	"" []	7086077	\N	\N	EFO	11	EFO	experimental factor	Syndactyly type 1
Orphanet:93403	\N	\N	"" []	Orphanet:93403	"" []	78536	\N	\N	EFO	0	EFO	Syndactyly type 2	Syndactyly type 2
Orphanet:90025	Orphanet:93403	\N	"" []	Orphanet:93403	"" []	223403	\N	\N	EFO	1	EFO	Syndactyly	Syndactyly type 2
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:93403	"" []	579946	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Syndactyly type 2
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:93403	"" []	1163726	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Syndactyly type 2
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:93403	"" []	1163727	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndactyly type 2
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93403	"" []	2047522	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Syndactyly type 2
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93403	"" []	2047523	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Syndactyly type 2
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93403	"" []	3197563	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 2
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93403	"" []	3197564	\N	\N	EFO	5	EFO	Rare genetic bone disease	Syndactyly type 2
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93403	"" []	3197565	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Syndactyly type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93403	"" []	5418865	\N	\N	EFO	7	EFO	genetic disorder	Syndactyly type 2
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93403	"" []	4403000	\N	\N	EFO	6	EFO	genetic disorder	Syndactyly type 2
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93403	"" []	4403001	\N	\N	EFO	6	EFO	bone disease	Syndactyly type 2
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93403	"" []	4403002	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93403	"" []	5998955	\N	\N	EFO	8	EFO	disease	Syndactyly type 2
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93403	"" []	5418864	\N	\N	EFO	7	EFO	skeletal system disease	Syndactyly type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93403	"" []	6551961	\N	\N	EFO	9	EFO	disposition	Syndactyly type 2
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93403	"" []	6153277	\N	\N	EFO	8	EFO	disease	Syndactyly type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93403	"" []	6889601	\N	\N	EFO	10	EFO	material property	Syndactyly type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93403	"" []	7086078	\N	\N	EFO	11	EFO	experimental factor	Syndactyly type 2
Orphanet:93404	\N	\N	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	78537	\N	\N	EFO	0	EFO	Syndactyly type 3	Syndactyly type 3
Orphanet:90025	Orphanet:93404	\N	"" []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	223404	\N	\N	EFO	1	EFO	Syndactyly	Syndactyly type 3
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	579947	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Syndactyly type 3
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	1163728	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Syndactyly type 3
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	1163729	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndactyly type 3
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	2047524	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Syndactyly type 3
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	2047525	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Syndactyly type 3
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	3197566	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 3
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	3197567	\N	\N	EFO	5	EFO	Rare genetic bone disease	Syndactyly type 3
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	3197568	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Syndactyly type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	5418868	\N	\N	EFO	7	EFO	genetic disorder	Syndactyly type 3
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	4403004	\N	\N	EFO	6	EFO	genetic disorder	Syndactyly type 3
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	4403005	\N	\N	EFO	6	EFO	bone disease	Syndactyly type 3
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	4403006	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	5998956	\N	\N	EFO	8	EFO	disease	Syndactyly type 3
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	5418867	\N	\N	EFO	7	EFO	skeletal system disease	Syndactyly type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	6551962	\N	\N	EFO	9	EFO	disposition	Syndactyly type 3
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	6153279	\N	\N	EFO	8	EFO	disease	Syndactyly type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	6889602	\N	\N	EFO	10	EFO	material property	Syndactyly type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93404	"Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." []	7086079	\N	\N	EFO	11	EFO	experimental factor	Syndactyly type 3
Orphanet:93405	\N	\N	"" []	Orphanet:93405	"" []	78538	\N	\N	EFO	0	EFO	Syndactyly type 4	Syndactyly type 4
Orphanet:90025	Orphanet:93405	\N	"" []	Orphanet:93405	"" []	223405	\N	\N	EFO	1	EFO	Syndactyly	Syndactyly type 4
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:93405	"" []	579948	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Syndactyly type 4
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:93405	"" []	1163730	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Syndactyly type 4
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:93405	"" []	1163731	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndactyly type 4
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93405	"" []	2047526	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Syndactyly type 4
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93405	"" []	2047527	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Syndactyly type 4
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93405	"" []	3197569	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 4
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93405	"" []	3197570	\N	\N	EFO	5	EFO	Rare genetic bone disease	Syndactyly type 4
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93405	"" []	3197571	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Syndactyly type 4
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93405	"" []	5418871	\N	\N	EFO	7	EFO	genetic disorder	Syndactyly type 4
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93405	"" []	4403008	\N	\N	EFO	6	EFO	genetic disorder	Syndactyly type 4
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93405	"" []	4403009	\N	\N	EFO	6	EFO	bone disease	Syndactyly type 4
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93405	"" []	4403010	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93405	"" []	5998957	\N	\N	EFO	8	EFO	disease	Syndactyly type 4
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93405	"" []	5418870	\N	\N	EFO	7	EFO	skeletal system disease	Syndactyly type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93405	"" []	6551963	\N	\N	EFO	9	EFO	disposition	Syndactyly type 4
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93405	"" []	6153281	\N	\N	EFO	8	EFO	disease	Syndactyly type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93405	"" []	6889603	\N	\N	EFO	10	EFO	material property	Syndactyly type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93405	"" []	7086080	\N	\N	EFO	11	EFO	experimental factor	Syndactyly type 4
Orphanet:93406	\N	\N	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	78539	\N	\N	EFO	0	EFO	Syndactyly type 5	Syndactyly type 5
Orphanet:90025	Orphanet:93406	\N	"" []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	223406	\N	\N	EFO	1	EFO	Syndactyly	Syndactyly type 5
Orphanet:93458	Orphanet:90025	\N	"" []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	579949	\N	\N	EFO	2	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Syndactyly type 5
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	1163732	\N	\N	EFO	3	EFO	Non-syndromic limb malformation	Syndactyly type 5
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	1163733	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndactyly type 5
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	2047528	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Syndactyly type 5
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	2047529	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Syndactyly type 5
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	3197572	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 5
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	3197573	\N	\N	EFO	5	EFO	Rare genetic bone disease	Syndactyly type 5
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	3197574	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Syndactyly type 5
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	5418874	\N	\N	EFO	7	EFO	genetic disorder	Syndactyly type 5
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	4403012	\N	\N	EFO	6	EFO	genetic disorder	Syndactyly type 5
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	4403013	\N	\N	EFO	6	EFO	bone disease	Syndactyly type 5
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	4403014	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Syndactyly type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	5998958	\N	\N	EFO	8	EFO	disease	Syndactyly type 5
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	5418873	\N	\N	EFO	7	EFO	skeletal system disease	Syndactyly type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	6551964	\N	\N	EFO	9	EFO	disposition	Syndactyly type 5
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	6153283	\N	\N	EFO	8	EFO	disease	Syndactyly type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	6889604	\N	\N	EFO	10	EFO	material property	Syndactyly type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93406	"Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." []	7086081	\N	\N	EFO	11	EFO	experimental factor	Syndactyly type 5
Orphanet:93409	\N	\N	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	78540	\N	\N	EFO	0	EFO	Brachydactyly-syndactyly, Zhao type	Brachydactyly-syndactyly, Zhao type
Orphanet:294959	Orphanet:93409	\N	"" []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	223407	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Brachydactyly-syndactyly, Zhao type
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	579950	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Brachydactyly-syndactyly, Zhao type
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	579951	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Brachydactyly-syndactyly, Zhao type
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	1163734	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Brachydactyly-syndactyly, Zhao type
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	1163735	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Brachydactyly-syndactyly, Zhao type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	2047530	\N	\N	EFO	4	EFO	Rare genetic bone disease	Brachydactyly-syndactyly, Zhao type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	2047531	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Brachydactyly-syndactyly, Zhao type
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	2047532	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly-syndactyly, Zhao type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	3197575	\N	\N	EFO	5	EFO	genetic disorder	Brachydactyly-syndactyly, Zhao type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	3197576	\N	\N	EFO	5	EFO	bone disease	Brachydactyly-syndactyly, Zhao type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	3197577	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Brachydactyly-syndactyly, Zhao type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	4403017	\N	\N	EFO	6	EFO	genetic disorder	Brachydactyly-syndactyly, Zhao type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	5183627	\N	\N	EFO	7	EFO	disease	Brachydactyly-syndactyly, Zhao type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	4403016	\N	\N	EFO	6	EFO	skeletal system disease	Brachydactyly-syndactyly, Zhao type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	5998959	\N	\N	EFO	8	EFO	disposition	Brachydactyly-syndactyly, Zhao type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	5418876	\N	\N	EFO	7	EFO	disease	Brachydactyly-syndactyly, Zhao type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	6551965	\N	\N	EFO	9	EFO	material property	Brachydactyly-syndactyly, Zhao type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93409	"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." []	6889605	\N	\N	EFO	10	EFO	experimental factor	Brachydactyly-syndactyly, Zhao type
Orphanet:93420	\N	\N	"" []	Orphanet:93420	"" []	78541	\N	\N	EFO	0	EFO	FGFR3-related chondrodysplasia	FGFR3-related chondrodysplasia
Orphanet:364803	Orphanet:93420	\N	"" []	Orphanet:93420	"" []	223408	\N	\N	EFO	1	EFO	Rare bone disease related to a common gene or pathway defect	FGFR3-related chondrodysplasia
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93420	"" []	579952	\N	\N	EFO	2	EFO	Rare genetic bone disease	FGFR3-related chondrodysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93420	"" []	1163736	\N	\N	EFO	3	EFO	genetic disorder	FGFR3-related chondrodysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93420	"" []	1163737	\N	\N	EFO	3	EFO	bone disease	FGFR3-related chondrodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93420	"" []	2047533	\N	\N	EFO	4	EFO	disease	FGFR3-related chondrodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93420	"" []	2047534	\N	\N	EFO	4	EFO	skeletal system disease	FGFR3-related chondrodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93420	"" []	4403019	\N	\N	EFO	6	EFO	disposition	FGFR3-related chondrodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93420	"" []	3197580	\N	\N	EFO	5	EFO	disease	FGFR3-related chondrodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93420	"" []	5183628	\N	\N	EFO	7	EFO	material property	FGFR3-related chondrodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93420	"" []	5998960	\N	\N	EFO	8	EFO	experimental factor	FGFR3-related chondrodysplasia
Orphanet:93421	\N	\N	"" []	Orphanet:93421	"" []	78542	\N	\N	EFO	0	EFO	Type 2 collagen-related bone disorder	Type 2 collagen-related bone disorder
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:93421	"" []	223409	\N	\N	EFO	1	EFO	Rare bone disease related to a common gene or pathway defect	Type 2 collagen-related bone disorder
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93421	"" []	579953	\N	\N	EFO	2	EFO	Rare genetic bone disease	Type 2 collagen-related bone disorder
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93421	"" []	1163738	\N	\N	EFO	3	EFO	genetic disorder	Type 2 collagen-related bone disorder
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93421	"" []	1163739	\N	\N	EFO	3	EFO	bone disease	Type 2 collagen-related bone disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93421	"" []	2047535	\N	\N	EFO	4	EFO	disease	Type 2 collagen-related bone disorder
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93421	"" []	2047536	\N	\N	EFO	4	EFO	skeletal system disease	Type 2 collagen-related bone disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93421	"" []	4403021	\N	\N	EFO	6	EFO	disposition	Type 2 collagen-related bone disorder
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93421	"" []	3197582	\N	\N	EFO	5	EFO	disease	Type 2 collagen-related bone disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93421	"" []	5183629	\N	\N	EFO	7	EFO	material property	Type 2 collagen-related bone disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93421	"" []	5998961	\N	\N	EFO	8	EFO	experimental factor	Type 2 collagen-related bone disorder
Orphanet:93422	\N	\N	"" []	Orphanet:93422	"" []	78543	\N	\N	EFO	0	EFO	Type 11 collagen-related bone disorder	Type 11 collagen-related bone disorder
Orphanet:364803	Orphanet:93422	\N	"" []	Orphanet:93422	"" []	223410	\N	\N	EFO	1	EFO	Rare bone disease related to a common gene or pathway defect	Type 11 collagen-related bone disorder
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93422	"" []	579954	\N	\N	EFO	2	EFO	Rare genetic bone disease	Type 11 collagen-related bone disorder
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93422	"" []	1163740	\N	\N	EFO	3	EFO	genetic disorder	Type 11 collagen-related bone disorder
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93422	"" []	1163741	\N	\N	EFO	3	EFO	bone disease	Type 11 collagen-related bone disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93422	"" []	2047537	\N	\N	EFO	4	EFO	disease	Type 11 collagen-related bone disorder
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93422	"" []	2047538	\N	\N	EFO	4	EFO	skeletal system disease	Type 11 collagen-related bone disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93422	"" []	4403023	\N	\N	EFO	6	EFO	disposition	Type 11 collagen-related bone disorder
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93422	"" []	3197584	\N	\N	EFO	5	EFO	disease	Type 11 collagen-related bone disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93422	"" []	5183630	\N	\N	EFO	7	EFO	material property	Type 11 collagen-related bone disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93422	"" []	5998962	\N	\N	EFO	8	EFO	experimental factor	Type 11 collagen-related bone disorder
Orphanet:93423	\N	\N	"" []	Orphanet:93423	"" []	78544	\N	\N	EFO	0	EFO	Sulfation-related bone disorder	Sulfation-related bone disorder
Orphanet:364803	Orphanet:93423	\N	"" []	Orphanet:93423	"" []	223411	\N	\N	EFO	1	EFO	Rare bone disease related to a common gene or pathway defect	Sulfation-related bone disorder
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93423	"" []	579955	\N	\N	EFO	2	EFO	Rare genetic bone disease	Sulfation-related bone disorder
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93423	"" []	1163742	\N	\N	EFO	3	EFO	genetic disorder	Sulfation-related bone disorder
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93423	"" []	1163743	\N	\N	EFO	3	EFO	bone disease	Sulfation-related bone disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93423	"" []	2047539	\N	\N	EFO	4	EFO	disease	Sulfation-related bone disorder
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93423	"" []	2047540	\N	\N	EFO	4	EFO	skeletal system disease	Sulfation-related bone disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93423	"" []	4403025	\N	\N	EFO	6	EFO	disposition	Sulfation-related bone disorder
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93423	"" []	3197586	\N	\N	EFO	5	EFO	disease	Sulfation-related bone disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93423	"" []	5183631	\N	\N	EFO	7	EFO	material property	Sulfation-related bone disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93423	"" []	5998963	\N	\N	EFO	8	EFO	experimental factor	Sulfation-related bone disorder
Orphanet:93424	\N	\N	"" []	Orphanet:93424	"" []	78545	\N	\N	EFO	0	EFO	Perlecan-related bone disorder	Perlecan-related bone disorder
Orphanet:364803	Orphanet:93424	\N	"" []	Orphanet:93424	"" []	223412	\N	\N	EFO	1	EFO	Rare bone disease related to a common gene or pathway defect	Perlecan-related bone disorder
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93424	"" []	579956	\N	\N	EFO	2	EFO	Rare genetic bone disease	Perlecan-related bone disorder
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93424	"" []	1163744	\N	\N	EFO	3	EFO	genetic disorder	Perlecan-related bone disorder
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93424	"" []	1163745	\N	\N	EFO	3	EFO	bone disease	Perlecan-related bone disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93424	"" []	2047541	\N	\N	EFO	4	EFO	disease	Perlecan-related bone disorder
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93424	"" []	2047542	\N	\N	EFO	4	EFO	skeletal system disease	Perlecan-related bone disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93424	"" []	4403027	\N	\N	EFO	6	EFO	disposition	Perlecan-related bone disorder
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93424	"" []	3197588	\N	\N	EFO	5	EFO	disease	Perlecan-related bone disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93424	"" []	5183632	\N	\N	EFO	7	EFO	material property	Perlecan-related bone disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93424	"" []	5998964	\N	\N	EFO	8	EFO	experimental factor	Perlecan-related bone disorder
Orphanet:93425	\N	\N	"" []	Orphanet:93425	"" []	78546	\N	\N	EFO	0	EFO	Filamin-related bone disorder	Filamin-related bone disorder
Orphanet:364803	Orphanet:93425	\N	"" []	Orphanet:93425	"" []	223413	\N	\N	EFO	1	EFO	Rare bone disease related to a common gene or pathway defect	Filamin-related bone disorder
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:93425	"" []	579957	\N	\N	EFO	2	EFO	Rare genetic bone disease	Filamin-related bone disorder
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93425	"" []	1163746	\N	\N	EFO	3	EFO	genetic disorder	Filamin-related bone disorder
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93425	"" []	1163747	\N	\N	EFO	3	EFO	bone disease	Filamin-related bone disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93425	"" []	2047543	\N	\N	EFO	4	EFO	disease	Filamin-related bone disorder
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93425	"" []	2047544	\N	\N	EFO	4	EFO	skeletal system disease	Filamin-related bone disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93425	"" []	4403029	\N	\N	EFO	6	EFO	disposition	Filamin-related bone disorder
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93425	"" []	3197590	\N	\N	EFO	5	EFO	disease	Filamin-related bone disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93425	"" []	5183633	\N	\N	EFO	7	EFO	material property	Filamin-related bone disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93425	"" []	5998965	\N	\N	EFO	8	EFO	experimental factor	Filamin-related bone disorder
Orphanet:93426	\N	\N	"" []	Orphanet:93426	"" []	78547	\N	\N	EFO	0	EFO	Short rib dysplasia	Short rib dysplasia
Orphanet:364526	Orphanet:93426	\N	"" []	Orphanet:93426	"" []	223414	\N	\N	EFO	1	EFO	Primary bone dysplasia	Short rib dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93426	"" []	579958	\N	\N	EFO	2	EFO	Rare genetic bone disease	Short rib dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93426	"" []	579959	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Short rib dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93426	"" []	1163748	\N	\N	EFO	3	EFO	genetic disorder	Short rib dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93426	"" []	1163749	\N	\N	EFO	3	EFO	bone disease	Short rib dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93426	"" []	1163750	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Short rib dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93426	"" []	3197593	\N	\N	EFO	5	EFO	disease	Short rib dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93426	"" []	2047546	\N	\N	EFO	4	EFO	skeletal system disease	Short rib dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93426	"" []	2047547	\N	\N	EFO	4	EFO	genetic disorder	Short rib dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93426	"" []	4134502	\N	\N	EFO	6	EFO	disposition	Short rib dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93426	"" []	3197592	\N	\N	EFO	5	EFO	disease	Short rib dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93426	"" []	5183634	\N	\N	EFO	7	EFO	material property	Short rib dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93426	"" []	5998966	\N	\N	EFO	8	EFO	experimental factor	Short rib dysplasia
Orphanet:93429	\N	\N	"" []	Orphanet:93429	"" []	78548	\N	\N	EFO	0	EFO	Multiple epiphyseal dysplasia and pseudoachondroplasia	Multiple epiphyseal dysplasia and pseudoachondroplasia
Orphanet:364526	Orphanet:93429	\N	"" []	Orphanet:93429	"" []	223415	\N	\N	EFO	1	EFO	Primary bone dysplasia	Multiple epiphyseal dysplasia and pseudoachondroplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93429	"" []	579960	\N	\N	EFO	2	EFO	Rare genetic bone disease	Multiple epiphyseal dysplasia and pseudoachondroplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93429	"" []	579961	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Multiple epiphyseal dysplasia and pseudoachondroplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93429	"" []	1163751	\N	\N	EFO	3	EFO	genetic disorder	Multiple epiphyseal dysplasia and pseudoachondroplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93429	"" []	1163752	\N	\N	EFO	3	EFO	bone disease	Multiple epiphyseal dysplasia and pseudoachondroplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93429	"" []	1163753	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Multiple epiphyseal dysplasia and pseudoachondroplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93429	"" []	3197596	\N	\N	EFO	5	EFO	disease	Multiple epiphyseal dysplasia and pseudoachondroplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93429	"" []	2047549	\N	\N	EFO	4	EFO	skeletal system disease	Multiple epiphyseal dysplasia and pseudoachondroplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93429	"" []	2047550	\N	\N	EFO	4	EFO	genetic disorder	Multiple epiphyseal dysplasia and pseudoachondroplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93429	"" []	4134503	\N	\N	EFO	6	EFO	disposition	Multiple epiphyseal dysplasia and pseudoachondroplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93429	"" []	3197595	\N	\N	EFO	5	EFO	disease	Multiple epiphyseal dysplasia and pseudoachondroplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93429	"" []	5183635	\N	\N	EFO	7	EFO	material property	Multiple epiphyseal dysplasia and pseudoachondroplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93429	"" []	5998967	\N	\N	EFO	8	EFO	experimental factor	Multiple epiphyseal dysplasia and pseudoachondroplasia
Orphanet:93430	\N	\N	"" []	Orphanet:93430	"" []	78549	\N	\N	EFO	0	EFO	Multiple metaphyseal dysplasia	Multiple metaphyseal dysplasia
Orphanet:364526	Orphanet:93430	\N	"" []	Orphanet:93430	"" []	223416	\N	\N	EFO	1	EFO	Primary bone dysplasia	Multiple metaphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93430	"" []	579962	\N	\N	EFO	2	EFO	Rare genetic bone disease	Multiple metaphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93430	"" []	579963	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Multiple metaphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93430	"" []	1163754	\N	\N	EFO	3	EFO	genetic disorder	Multiple metaphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93430	"" []	1163755	\N	\N	EFO	3	EFO	bone disease	Multiple metaphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93430	"" []	1163756	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Multiple metaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93430	"" []	3197599	\N	\N	EFO	5	EFO	disease	Multiple metaphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93430	"" []	2047552	\N	\N	EFO	4	EFO	skeletal system disease	Multiple metaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93430	"" []	2047553	\N	\N	EFO	4	EFO	genetic disorder	Multiple metaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93430	"" []	4134504	\N	\N	EFO	6	EFO	disposition	Multiple metaphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93430	"" []	3197598	\N	\N	EFO	5	EFO	disease	Multiple metaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93430	"" []	5183636	\N	\N	EFO	7	EFO	material property	Multiple metaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93430	"" []	5998968	\N	\N	EFO	8	EFO	experimental factor	Multiple metaphyseal dysplasia
Orphanet:93434	\N	\N	"" []	Orphanet:93434	"" []	78550	\N	\N	EFO	0	EFO	Spondylodysplastic dysplasia	Spondylodysplastic dysplasia
Orphanet:364526	Orphanet:93434	\N	"" []	Orphanet:93434	"" []	223417	\N	\N	EFO	1	EFO	Primary bone dysplasia	Spondylodysplastic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93434	"" []	579964	\N	\N	EFO	2	EFO	Rare genetic bone disease	Spondylodysplastic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93434	"" []	579965	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Spondylodysplastic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93434	"" []	1163757	\N	\N	EFO	3	EFO	genetic disorder	Spondylodysplastic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93434	"" []	1163758	\N	\N	EFO	3	EFO	bone disease	Spondylodysplastic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93434	"" []	1163759	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Spondylodysplastic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93434	"" []	3197602	\N	\N	EFO	5	EFO	disease	Spondylodysplastic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93434	"" []	2047555	\N	\N	EFO	4	EFO	skeletal system disease	Spondylodysplastic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93434	"" []	2047556	\N	\N	EFO	4	EFO	genetic disorder	Spondylodysplastic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93434	"" []	4134505	\N	\N	EFO	6	EFO	disposition	Spondylodysplastic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93434	"" []	3197601	\N	\N	EFO	5	EFO	disease	Spondylodysplastic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93434	"" []	5183637	\N	\N	EFO	7	EFO	material property	Spondylodysplastic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93434	"" []	5998969	\N	\N	EFO	8	EFO	experimental factor	Spondylodysplastic dysplasia
Orphanet:93436	\N	\N	"" []	Orphanet:93436	"" []	78551	\N	\N	EFO	0	EFO	Acromelic dysplasia	Acromelic dysplasia
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:93436	"" []	223418	\N	\N	EFO	1	EFO	Primary bone dysplasia	Acromelic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93436	"" []	579966	\N	\N	EFO	2	EFO	Rare genetic bone disease	Acromelic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93436	"" []	579967	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Acromelic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93436	"" []	1163760	\N	\N	EFO	3	EFO	genetic disorder	Acromelic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93436	"" []	1163761	\N	\N	EFO	3	EFO	bone disease	Acromelic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93436	"" []	1163762	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acromelic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93436	"" []	3197605	\N	\N	EFO	5	EFO	disease	Acromelic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93436	"" []	2047558	\N	\N	EFO	4	EFO	skeletal system disease	Acromelic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93436	"" []	2047559	\N	\N	EFO	4	EFO	genetic disorder	Acromelic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93436	"" []	4134506	\N	\N	EFO	6	EFO	disposition	Acromelic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93436	"" []	3197604	\N	\N	EFO	5	EFO	disease	Acromelic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93436	"" []	5183638	\N	\N	EFO	7	EFO	material property	Acromelic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93436	"" []	5998970	\N	\N	EFO	8	EFO	experimental factor	Acromelic dysplasia
Orphanet:93437	\N	\N	"" []	Orphanet:93437	"" []	78552	\N	\N	EFO	0	EFO	Acromesomelic dysplasia	Acromesomelic dysplasia
Orphanet:364526	Orphanet:93437	\N	"" []	Orphanet:93437	"" []	223419	\N	\N	EFO	1	EFO	Primary bone dysplasia	Acromesomelic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93437	"" []	579968	\N	\N	EFO	2	EFO	Rare genetic bone disease	Acromesomelic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93437	"" []	579969	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Acromesomelic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93437	"" []	1163763	\N	\N	EFO	3	EFO	genetic disorder	Acromesomelic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93437	"" []	1163764	\N	\N	EFO	3	EFO	bone disease	Acromesomelic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93437	"" []	1163765	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acromesomelic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93437	"" []	3197608	\N	\N	EFO	5	EFO	disease	Acromesomelic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93437	"" []	2047561	\N	\N	EFO	4	EFO	skeletal system disease	Acromesomelic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93437	"" []	2047562	\N	\N	EFO	4	EFO	genetic disorder	Acromesomelic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93437	"" []	4134507	\N	\N	EFO	6	EFO	disposition	Acromesomelic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93437	"" []	3197607	\N	\N	EFO	5	EFO	disease	Acromesomelic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93437	"" []	5183639	\N	\N	EFO	7	EFO	material property	Acromesomelic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93437	"" []	5998971	\N	\N	EFO	8	EFO	experimental factor	Acromesomelic dysplasia
Orphanet:93438	\N	\N	"" []	Orphanet:93438	"" []	78553	\N	\N	EFO	0	EFO	Mesomelic and rhizo-mesomelic dysplasia	Mesomelic and rhizo-mesomelic dysplasia
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:93438	"" []	223420	\N	\N	EFO	1	EFO	Primary bone dysplasia	Mesomelic and rhizo-mesomelic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93438	"" []	579970	\N	\N	EFO	2	EFO	Rare genetic bone disease	Mesomelic and rhizo-mesomelic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93438	"" []	579971	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Mesomelic and rhizo-mesomelic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93438	"" []	1163766	\N	\N	EFO	3	EFO	genetic disorder	Mesomelic and rhizo-mesomelic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93438	"" []	1163767	\N	\N	EFO	3	EFO	bone disease	Mesomelic and rhizo-mesomelic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93438	"" []	1163768	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Mesomelic and rhizo-mesomelic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93438	"" []	3197611	\N	\N	EFO	5	EFO	disease	Mesomelic and rhizo-mesomelic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93438	"" []	2047564	\N	\N	EFO	4	EFO	skeletal system disease	Mesomelic and rhizo-mesomelic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93438	"" []	2047565	\N	\N	EFO	4	EFO	genetic disorder	Mesomelic and rhizo-mesomelic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93438	"" []	4134508	\N	\N	EFO	6	EFO	disposition	Mesomelic and rhizo-mesomelic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93438	"" []	3197610	\N	\N	EFO	5	EFO	disease	Mesomelic and rhizo-mesomelic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93438	"" []	5183640	\N	\N	EFO	7	EFO	material property	Mesomelic and rhizo-mesomelic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93438	"" []	5998972	\N	\N	EFO	8	EFO	experimental factor	Mesomelic and rhizo-mesomelic dysplasia
Orphanet:93439	\N	\N	"" []	Orphanet:93439	"" []	78554	\N	\N	EFO	0	EFO	Bent bone dysplasia	Bent bone dysplasia
Orphanet:364526	Orphanet:93439	\N	"" []	Orphanet:93439	"" []	223421	\N	\N	EFO	1	EFO	Primary bone dysplasia	Bent bone dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93439	"" []	579972	\N	\N	EFO	2	EFO	Rare genetic bone disease	Bent bone dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93439	"" []	579973	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Bent bone dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93439	"" []	1163769	\N	\N	EFO	3	EFO	genetic disorder	Bent bone dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93439	"" []	1163770	\N	\N	EFO	3	EFO	bone disease	Bent bone dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93439	"" []	1163771	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bent bone dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93439	"" []	3197614	\N	\N	EFO	5	EFO	disease	Bent bone dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93439	"" []	2047567	\N	\N	EFO	4	EFO	skeletal system disease	Bent bone dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93439	"" []	2047568	\N	\N	EFO	4	EFO	genetic disorder	Bent bone dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93439	"" []	4134509	\N	\N	EFO	6	EFO	disposition	Bent bone dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93439	"" []	3197613	\N	\N	EFO	5	EFO	disease	Bent bone dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93439	"" []	5183641	\N	\N	EFO	7	EFO	material property	Bent bone dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93439	"" []	5998973	\N	\N	EFO	8	EFO	experimental factor	Bent bone dysplasia
Orphanet:93440	\N	\N	"" []	Orphanet:93440	"" []	78555	\N	\N	EFO	0	EFO	Slender bone dysplasia	Slender bone dysplasia
Orphanet:364526	Orphanet:93440	\N	"" []	Orphanet:93440	"" []	223422	\N	\N	EFO	1	EFO	Primary bone dysplasia	Slender bone dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93440	"" []	579974	\N	\N	EFO	2	EFO	Rare genetic bone disease	Slender bone dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93440	"" []	579975	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Slender bone dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93440	"" []	1163772	\N	\N	EFO	3	EFO	genetic disorder	Slender bone dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93440	"" []	1163773	\N	\N	EFO	3	EFO	bone disease	Slender bone dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93440	"" []	1163774	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Slender bone dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93440	"" []	3197617	\N	\N	EFO	5	EFO	disease	Slender bone dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93440	"" []	2047570	\N	\N	EFO	4	EFO	skeletal system disease	Slender bone dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93440	"" []	2047571	\N	\N	EFO	4	EFO	genetic disorder	Slender bone dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93440	"" []	4134510	\N	\N	EFO	6	EFO	disposition	Slender bone dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93440	"" []	3197616	\N	\N	EFO	5	EFO	disease	Slender bone dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93440	"" []	5183642	\N	\N	EFO	7	EFO	material property	Slender bone dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93440	"" []	5998974	\N	\N	EFO	8	EFO	experimental factor	Slender bone dysplasia
Orphanet:93441	\N	\N	"" []	Orphanet:93441	"" []	78556	\N	\N	EFO	0	EFO	Primary bone dysplasia with multiple joint dislocations	Primary bone dysplasia with multiple joint dislocations
Orphanet:364526	Orphanet:93441	\N	"" []	Orphanet:93441	"" []	223423	\N	\N	EFO	1	EFO	Primary bone dysplasia	Primary bone dysplasia with multiple joint dislocations
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93441	"" []	579976	\N	\N	EFO	2	EFO	Rare genetic bone disease	Primary bone dysplasia with multiple joint dislocations
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93441	"" []	579977	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Primary bone dysplasia with multiple joint dislocations
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93441	"" []	1163775	\N	\N	EFO	3	EFO	genetic disorder	Primary bone dysplasia with multiple joint dislocations
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93441	"" []	1163776	\N	\N	EFO	3	EFO	bone disease	Primary bone dysplasia with multiple joint dislocations
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93441	"" []	1163777	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Primary bone dysplasia with multiple joint dislocations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93441	"" []	3197620	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with multiple joint dislocations
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93441	"" []	2047573	\N	\N	EFO	4	EFO	skeletal system disease	Primary bone dysplasia with multiple joint dislocations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93441	"" []	2047574	\N	\N	EFO	4	EFO	genetic disorder	Primary bone dysplasia with multiple joint dislocations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93441	"" []	4134511	\N	\N	EFO	6	EFO	disposition	Primary bone dysplasia with multiple joint dislocations
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93441	"" []	3197619	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with multiple joint dislocations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93441	"" []	5183643	\N	\N	EFO	7	EFO	material property	Primary bone dysplasia with multiple joint dislocations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93441	"" []	5998975	\N	\N	EFO	8	EFO	experimental factor	Primary bone dysplasia with multiple joint dislocations
Orphanet:93442	\N	\N	"" []	Orphanet:93442	"" []	78557	\N	\N	EFO	0	EFO	Chondrodysplasia punctata	Chondrodysplasia punctata
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:93442	"" []	223424	\N	\N	EFO	1	EFO	Primary bone dysplasia	Chondrodysplasia punctata
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93442	"" []	579978	\N	\N	EFO	2	EFO	Rare genetic bone disease	Chondrodysplasia punctata
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93442	"" []	579979	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Chondrodysplasia punctata
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93442	"" []	1163778	\N	\N	EFO	3	EFO	genetic disorder	Chondrodysplasia punctata
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93442	"" []	1163779	\N	\N	EFO	3	EFO	bone disease	Chondrodysplasia punctata
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93442	"" []	1163780	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Chondrodysplasia punctata
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93442	"" []	3197623	\N	\N	EFO	5	EFO	disease	Chondrodysplasia punctata
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93442	"" []	2047576	\N	\N	EFO	4	EFO	skeletal system disease	Chondrodysplasia punctata
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93442	"" []	2047577	\N	\N	EFO	4	EFO	genetic disorder	Chondrodysplasia punctata
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93442	"" []	4134512	\N	\N	EFO	6	EFO	disposition	Chondrodysplasia punctata
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93442	"" []	3197622	\N	\N	EFO	5	EFO	disease	Chondrodysplasia punctata
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93442	"" []	5183644	\N	\N	EFO	7	EFO	material property	Chondrodysplasia punctata
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93442	"" []	5998976	\N	\N	EFO	8	EFO	experimental factor	Chondrodysplasia punctata
Orphanet:93443	\N	\N	"" []	Orphanet:93443	"" []	78558	\N	\N	EFO	0	EFO	Neonatal osteosclerotic dysplasia	Neonatal osteosclerotic dysplasia
Orphanet:93444	Orphanet:93443	\N	"" []	Orphanet:93443	"" []	223425	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	Neonatal osteosclerotic dysplasia
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:93443	"" []	579980	\N	\N	EFO	2	EFO	Primary bone dysplasia	Neonatal osteosclerotic dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93443	"" []	1163781	\N	\N	EFO	3	EFO	Rare genetic bone disease	Neonatal osteosclerotic dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93443	"" []	1163782	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Neonatal osteosclerotic dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93443	"" []	2047578	\N	\N	EFO	4	EFO	genetic disorder	Neonatal osteosclerotic dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93443	"" []	2047579	\N	\N	EFO	4	EFO	bone disease	Neonatal osteosclerotic dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93443	"" []	2047580	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Neonatal osteosclerotic dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93443	"" []	4403043	\N	\N	EFO	6	EFO	disease	Neonatal osteosclerotic dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93443	"" []	3197625	\N	\N	EFO	5	EFO	skeletal system disease	Neonatal osteosclerotic dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93443	"" []	3197626	\N	\N	EFO	5	EFO	genetic disorder	Neonatal osteosclerotic dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93443	"" []	5183645	\N	\N	EFO	7	EFO	disposition	Neonatal osteosclerotic dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93443	"" []	4403042	\N	\N	EFO	6	EFO	disease	Neonatal osteosclerotic dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93443	"" []	5998977	\N	\N	EFO	8	EFO	material property	Neonatal osteosclerotic dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93443	"" []	6551966	\N	\N	EFO	9	EFO	experimental factor	Neonatal osteosclerotic dysplasia
Orphanet:93444	\N	\N	"" []	Orphanet:93444	"" []	78559	\N	\N	EFO	0	EFO	Primary bone dysplasia with increased bone density	Primary bone dysplasia with increased bone density
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:93444	"" []	223426	\N	\N	EFO	1	EFO	Primary bone dysplasia	Primary bone dysplasia with increased bone density
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93444	"" []	579981	\N	\N	EFO	2	EFO	Rare genetic bone disease	Primary bone dysplasia with increased bone density
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93444	"" []	579982	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Primary bone dysplasia with increased bone density
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93444	"" []	1163783	\N	\N	EFO	3	EFO	genetic disorder	Primary bone dysplasia with increased bone density
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93444	"" []	1163784	\N	\N	EFO	3	EFO	bone disease	Primary bone dysplasia with increased bone density
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93444	"" []	1163785	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Primary bone dysplasia with increased bone density
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93444	"" []	3197629	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with increased bone density
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93444	"" []	2047582	\N	\N	EFO	4	EFO	skeletal system disease	Primary bone dysplasia with increased bone density
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93444	"" []	2047583	\N	\N	EFO	4	EFO	genetic disorder	Primary bone dysplasia with increased bone density
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93444	"" []	4134513	\N	\N	EFO	6	EFO	disposition	Primary bone dysplasia with increased bone density
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93444	"" []	3197628	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with increased bone density
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93444	"" []	5183646	\N	\N	EFO	7	EFO	material property	Primary bone dysplasia with increased bone density
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93444	"" []	5998978	\N	\N	EFO	8	EFO	experimental factor	Primary bone dysplasia with increased bone density
Orphanet:93446	\N	\N	"" []	Orphanet:93446	"" []	78560	\N	\N	EFO	0	EFO	Primary bone dysplasia with decreased bone density	Primary bone dysplasia with decreased bone density
Orphanet:364526	Orphanet:93446	\N	"" []	Orphanet:93446	"" []	223427	\N	\N	EFO	1	EFO	Primary bone dysplasia	Primary bone dysplasia with decreased bone density
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93446	"" []	579983	\N	\N	EFO	2	EFO	Rare genetic bone disease	Primary bone dysplasia with decreased bone density
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93446	"" []	579984	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Primary bone dysplasia with decreased bone density
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93446	"" []	1163786	\N	\N	EFO	3	EFO	genetic disorder	Primary bone dysplasia with decreased bone density
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93446	"" []	1163787	\N	\N	EFO	3	EFO	bone disease	Primary bone dysplasia with decreased bone density
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93446	"" []	1163788	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Primary bone dysplasia with decreased bone density
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93446	"" []	3197632	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with decreased bone density
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93446	"" []	2047585	\N	\N	EFO	4	EFO	skeletal system disease	Primary bone dysplasia with decreased bone density
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93446	"" []	2047586	\N	\N	EFO	4	EFO	genetic disorder	Primary bone dysplasia with decreased bone density
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93446	"" []	4134514	\N	\N	EFO	6	EFO	disposition	Primary bone dysplasia with decreased bone density
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93446	"" []	3197631	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with decreased bone density
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93446	"" []	5183647	\N	\N	EFO	7	EFO	material property	Primary bone dysplasia with decreased bone density
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93446	"" []	5998979	\N	\N	EFO	8	EFO	experimental factor	Primary bone dysplasia with decreased bone density
Orphanet:93447	\N	\N	"" []	Orphanet:93447	"" []	78561	\N	\N	EFO	0	EFO	Primary bone dysplasia with defective bone mineralization	Primary bone dysplasia with defective bone mineralization
Orphanet:364526	Orphanet:93447	\N	"" []	Orphanet:93447	"" []	223428	\N	\N	EFO	1	EFO	Primary bone dysplasia	Primary bone dysplasia with defective bone mineralization
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93447	"" []	579985	\N	\N	EFO	2	EFO	Rare genetic bone disease	Primary bone dysplasia with defective bone mineralization
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93447	"" []	579986	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Primary bone dysplasia with defective bone mineralization
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93447	"" []	1163789	\N	\N	EFO	3	EFO	genetic disorder	Primary bone dysplasia with defective bone mineralization
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93447	"" []	1163790	\N	\N	EFO	3	EFO	bone disease	Primary bone dysplasia with defective bone mineralization
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93447	"" []	1163791	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Primary bone dysplasia with defective bone mineralization
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93447	"" []	3197635	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with defective bone mineralization
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93447	"" []	2047588	\N	\N	EFO	4	EFO	skeletal system disease	Primary bone dysplasia with defective bone mineralization
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93447	"" []	2047589	\N	\N	EFO	4	EFO	genetic disorder	Primary bone dysplasia with defective bone mineralization
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93447	"" []	4134515	\N	\N	EFO	6	EFO	disposition	Primary bone dysplasia with defective bone mineralization
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93447	"" []	3197634	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with defective bone mineralization
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93447	"" []	5183648	\N	\N	EFO	7	EFO	material property	Primary bone dysplasia with defective bone mineralization
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93447	"" []	5998980	\N	\N	EFO	8	EFO	experimental factor	Primary bone dysplasia with defective bone mineralization
Orphanet:93448	\N	\N	"" []	Orphanet:93448	"" []	78562	\N	\N	EFO	0	EFO	Lysosomal storage disease with skeletal involvement	Lysosomal storage disease with skeletal involvement
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:93448	"" []	223429	\N	\N	EFO	1	EFO	Rare genetic bone disease	Lysosomal storage disease with skeletal involvement
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93448	"" []	579987	\N	\N	EFO	2	EFO	genetic disorder	Lysosomal storage disease with skeletal involvement
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93448	"" []	579988	\N	\N	EFO	2	EFO	bone disease	Lysosomal storage disease with skeletal involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93448	"" []	1163792	\N	\N	EFO	3	EFO	disease	Lysosomal storage disease with skeletal involvement
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93448	"" []	1163793	\N	\N	EFO	3	EFO	skeletal system disease	Lysosomal storage disease with skeletal involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93448	"" []	3197637	\N	\N	EFO	5	EFO	disposition	Lysosomal storage disease with skeletal involvement
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93448	"" []	2047591	\N	\N	EFO	4	EFO	disease	Lysosomal storage disease with skeletal involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93448	"" []	4134516	\N	\N	EFO	6	EFO	material property	Lysosomal storage disease with skeletal involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93448	"" []	5183649	\N	\N	EFO	7	EFO	experimental factor	Lysosomal storage disease with skeletal involvement
Orphanet:93449	\N	\N	"" []	Orphanet:93449	"" []	78563	\N	\N	EFO	0	EFO	Primary osteolysis	Primary osteolysis
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:93449	"" []	223430	\N	\N	EFO	1	EFO	Primary bone dysplasia	Primary osteolysis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93449	"" []	579989	\N	\N	EFO	2	EFO	Rare genetic bone disease	Primary osteolysis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93449	"" []	579990	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Primary osteolysis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93449	"" []	1163794	\N	\N	EFO	3	EFO	genetic disorder	Primary osteolysis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93449	"" []	1163795	\N	\N	EFO	3	EFO	bone disease	Primary osteolysis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93449	"" []	1163796	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Primary osteolysis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93449	"" []	3197640	\N	\N	EFO	5	EFO	disease	Primary osteolysis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93449	"" []	2047593	\N	\N	EFO	4	EFO	skeletal system disease	Primary osteolysis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93449	"" []	2047594	\N	\N	EFO	4	EFO	genetic disorder	Primary osteolysis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93449	"" []	4134517	\N	\N	EFO	6	EFO	disposition	Primary osteolysis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93449	"" []	3197639	\N	\N	EFO	5	EFO	disease	Primary osteolysis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93449	"" []	5183650	\N	\N	EFO	7	EFO	material property	Primary osteolysis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93449	"" []	5998981	\N	\N	EFO	8	EFO	experimental factor	Primary osteolysis
Orphanet:93450	\N	\N	"" []	Orphanet:93450	"" []	78564	\N	\N	EFO	0	EFO	Primary bone dysplasia with disorganized development of skeletal components	Primary bone dysplasia with disorganized development of skeletal components
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:93450	"" []	223431	\N	\N	EFO	1	EFO	Primary bone dysplasia	Primary bone dysplasia with disorganized development of skeletal components
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93450	"" []	579991	\N	\N	EFO	2	EFO	Rare genetic bone disease	Primary bone dysplasia with disorganized development of skeletal components
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93450	"" []	579992	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Primary bone dysplasia with disorganized development of skeletal components
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93450	"" []	1163797	\N	\N	EFO	3	EFO	genetic disorder	Primary bone dysplasia with disorganized development of skeletal components
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93450	"" []	1163798	\N	\N	EFO	3	EFO	bone disease	Primary bone dysplasia with disorganized development of skeletal components
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93450	"" []	1163799	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Primary bone dysplasia with disorganized development of skeletal components
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93450	"" []	3197643	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with disorganized development of skeletal components
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93450	"" []	2047596	\N	\N	EFO	4	EFO	skeletal system disease	Primary bone dysplasia with disorganized development of skeletal components
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93450	"" []	2047597	\N	\N	EFO	4	EFO	genetic disorder	Primary bone dysplasia with disorganized development of skeletal components
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93450	"" []	4134518	\N	\N	EFO	6	EFO	disposition	Primary bone dysplasia with disorganized development of skeletal components
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93450	"" []	3197642	\N	\N	EFO	5	EFO	disease	Primary bone dysplasia with disorganized development of skeletal components
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93450	"" []	5183651	\N	\N	EFO	7	EFO	material property	Primary bone dysplasia with disorganized development of skeletal components
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93450	"" []	5998982	\N	\N	EFO	8	EFO	experimental factor	Primary bone dysplasia with disorganized development of skeletal components
Orphanet:93451	\N	\N	"" []	Orphanet:93451	"" []	78565	\N	\N	EFO	0	EFO	Cleidocranial dysplasia and isolated cranial ossification defect	Cleidocranial dysplasia and isolated cranial ossification defect
Orphanet:364526	Orphanet:93451	\N	"" []	Orphanet:93451	"" []	223432	\N	\N	EFO	1	EFO	Primary bone dysplasia	Cleidocranial dysplasia and isolated cranial ossification defect
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93451	"" []	579993	\N	\N	EFO	2	EFO	Rare genetic bone disease	Cleidocranial dysplasia and isolated cranial ossification defect
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93451	"" []	579994	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Cleidocranial dysplasia and isolated cranial ossification defect
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93451	"" []	1163800	\N	\N	EFO	3	EFO	genetic disorder	Cleidocranial dysplasia and isolated cranial ossification defect
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93451	"" []	1163801	\N	\N	EFO	3	EFO	bone disease	Cleidocranial dysplasia and isolated cranial ossification defect
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93451	"" []	1163802	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cleidocranial dysplasia and isolated cranial ossification defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93451	"" []	3197646	\N	\N	EFO	5	EFO	disease	Cleidocranial dysplasia and isolated cranial ossification defect
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93451	"" []	2047599	\N	\N	EFO	4	EFO	skeletal system disease	Cleidocranial dysplasia and isolated cranial ossification defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93451	"" []	2047600	\N	\N	EFO	4	EFO	genetic disorder	Cleidocranial dysplasia and isolated cranial ossification defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93451	"" []	4134519	\N	\N	EFO	6	EFO	disposition	Cleidocranial dysplasia and isolated cranial ossification defect
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93451	"" []	3197645	\N	\N	EFO	5	EFO	disease	Cleidocranial dysplasia and isolated cranial ossification defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93451	"" []	5183652	\N	\N	EFO	7	EFO	material property	Cleidocranial dysplasia and isolated cranial ossification defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93451	"" []	5998983	\N	\N	EFO	8	EFO	experimental factor	Cleidocranial dysplasia and isolated cranial ossification defect
Orphanet:93453	\N	\N	"" []	Orphanet:93453	"" []	78566	\N	\N	EFO	0	EFO	Dysostosis with predominant craniofacial involvement	Dysostosis with predominant craniofacial involvement
Orphanet:404568	Orphanet:93453	\N	"" []	Orphanet:93453	"" []	223433	\N	\N	EFO	1	EFO	Dysostosis of genetic origin	Dysostosis with predominant craniofacial involvement
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93453	"" []	579995	\N	\N	EFO	2	EFO	Rare genetic bone disease	Dysostosis with predominant craniofacial involvement
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93453	"" []	579996	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Dysostosis with predominant craniofacial involvement
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93453	"" []	1163803	\N	\N	EFO	3	EFO	genetic disorder	Dysostosis with predominant craniofacial involvement
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93453	"" []	1163804	\N	\N	EFO	3	EFO	bone disease	Dysostosis with predominant craniofacial involvement
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93453	"" []	1163805	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dysostosis with predominant craniofacial involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93453	"" []	3197649	\N	\N	EFO	5	EFO	disease	Dysostosis with predominant craniofacial involvement
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93453	"" []	2047602	\N	\N	EFO	4	EFO	skeletal system disease	Dysostosis with predominant craniofacial involvement
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93453	"" []	2047603	\N	\N	EFO	4	EFO	genetic disorder	Dysostosis with predominant craniofacial involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93453	"" []	4134520	\N	\N	EFO	6	EFO	disposition	Dysostosis with predominant craniofacial involvement
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93453	"" []	3197648	\N	\N	EFO	5	EFO	disease	Dysostosis with predominant craniofacial involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93453	"" []	5183653	\N	\N	EFO	7	EFO	material property	Dysostosis with predominant craniofacial involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93453	"" []	5998984	\N	\N	EFO	8	EFO	experimental factor	Dysostosis with predominant craniofacial involvement
Orphanet:93454	\N	\N	"" []	Orphanet:93454	"" []	78567	\N	\N	EFO	0	EFO	Dysostosis with predominant vertebral and costal involvement	Dysostosis with predominant vertebral and costal involvement
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:93454	"" []	223434	\N	\N	EFO	1	EFO	Dysostosis of genetic origin	Dysostosis with predominant vertebral and costal involvement
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93454	"" []	579997	\N	\N	EFO	2	EFO	Rare genetic bone disease	Dysostosis with predominant vertebral and costal involvement
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93454	"" []	579998	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Dysostosis with predominant vertebral and costal involvement
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93454	"" []	1163806	\N	\N	EFO	3	EFO	genetic disorder	Dysostosis with predominant vertebral and costal involvement
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93454	"" []	1163807	\N	\N	EFO	3	EFO	bone disease	Dysostosis with predominant vertebral and costal involvement
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93454	"" []	1163808	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dysostosis with predominant vertebral and costal involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93454	"" []	3197652	\N	\N	EFO	5	EFO	disease	Dysostosis with predominant vertebral and costal involvement
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93454	"" []	2047605	\N	\N	EFO	4	EFO	skeletal system disease	Dysostosis with predominant vertebral and costal involvement
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93454	"" []	2047606	\N	\N	EFO	4	EFO	genetic disorder	Dysostosis with predominant vertebral and costal involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93454	"" []	4134521	\N	\N	EFO	6	EFO	disposition	Dysostosis with predominant vertebral and costal involvement
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93454	"" []	3197651	\N	\N	EFO	5	EFO	disease	Dysostosis with predominant vertebral and costal involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93454	"" []	5183654	\N	\N	EFO	7	EFO	material property	Dysostosis with predominant vertebral and costal involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93454	"" []	5998985	\N	\N	EFO	8	EFO	experimental factor	Dysostosis with predominant vertebral and costal involvement
Orphanet:93455	\N	\N	"" []	Orphanet:93455	"" []	78568	\N	\N	EFO	0	EFO	Patellar dysostosis	Patellar dysostosis
Orphanet:404568	Orphanet:93455	\N	"" []	Orphanet:93455	"" []	223435	\N	\N	EFO	1	EFO	Dysostosis of genetic origin	Patellar dysostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93455	"" []	579999	\N	\N	EFO	2	EFO	Rare genetic bone disease	Patellar dysostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93455	"" []	580000	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Patellar dysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93455	"" []	1163809	\N	\N	EFO	3	EFO	genetic disorder	Patellar dysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93455	"" []	1163810	\N	\N	EFO	3	EFO	bone disease	Patellar dysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93455	"" []	1163811	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Patellar dysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93455	"" []	3197655	\N	\N	EFO	5	EFO	disease	Patellar dysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93455	"" []	2047608	\N	\N	EFO	4	EFO	skeletal system disease	Patellar dysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93455	"" []	2047609	\N	\N	EFO	4	EFO	genetic disorder	Patellar dysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93455	"" []	4134522	\N	\N	EFO	6	EFO	disposition	Patellar dysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93455	"" []	3197654	\N	\N	EFO	5	EFO	disease	Patellar dysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93455	"" []	5183655	\N	\N	EFO	7	EFO	material property	Patellar dysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93455	"" []	5998986	\N	\N	EFO	8	EFO	experimental factor	Patellar dysostosis
Orphanet:93457	\N	\N	"" []	Orphanet:93457	"" []	78569	\N	\N	EFO	0	EFO	Non-syndromic limb reduction defect	Non-syndromic limb reduction defect
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:93457	"" []	223436	\N	\N	EFO	1	EFO	Non-syndromic limb malformation	Non-syndromic limb reduction defect
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:93457	"" []	223437	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Non-syndromic limb reduction defect
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93457	"" []	580001	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Non-syndromic limb reduction defect
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93457	"" []	580002	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Non-syndromic limb reduction defect
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93457	"" []	1163812	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic limb reduction defect
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93457	"" []	1163813	\N	\N	EFO	3	EFO	Rare genetic bone disease	Non-syndromic limb reduction defect
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93457	"" []	1163814	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Non-syndromic limb reduction defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93457	"" []	3197658	\N	\N	EFO	5	EFO	genetic disorder	Non-syndromic limb reduction defect
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93457	"" []	2047611	\N	\N	EFO	4	EFO	genetic disorder	Non-syndromic limb reduction defect
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93457	"" []	2047612	\N	\N	EFO	4	EFO	bone disease	Non-syndromic limb reduction defect
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93457	"" []	2047613	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic limb reduction defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93457	"" []	4134523	\N	\N	EFO	6	EFO	disease	Non-syndromic limb reduction defect
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93457	"" []	3197657	\N	\N	EFO	5	EFO	skeletal system disease	Non-syndromic limb reduction defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93457	"" []	5183656	\N	\N	EFO	7	EFO	disposition	Non-syndromic limb reduction defect
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93457	"" []	4403055	\N	\N	EFO	6	EFO	disease	Non-syndromic limb reduction defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93457	"" []	5998987	\N	\N	EFO	8	EFO	material property	Non-syndromic limb reduction defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93457	"" []	6551967	\N	\N	EFO	9	EFO	experimental factor	Non-syndromic limb reduction defect
Orphanet:93458	\N	\N	"" []	Orphanet:93458	"" []	78570	\N	\N	EFO	0	EFO	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Orphanet:109011	Orphanet:93458	\N	"" []	Orphanet:93458	"" []	223438	\N	\N	EFO	1	EFO	Non-syndromic limb malformation	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Orphanet:404571	Orphanet:93458	\N	"" []	Orphanet:93458	"" []	223439	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93458	"" []	580003	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93458	"" []	580004	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93458	"" []	1163815	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93458	"" []	1163816	\N	\N	EFO	3	EFO	Rare genetic bone disease	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93458	"" []	1163817	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93458	"" []	3197661	\N	\N	EFO	5	EFO	genetic disorder	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93458	"" []	2047615	\N	\N	EFO	4	EFO	genetic disorder	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93458	"" []	2047616	\N	\N	EFO	4	EFO	bone disease	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93458	"" []	2047617	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93458	"" []	4134524	\N	\N	EFO	6	EFO	disease	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93458	"" []	3197660	\N	\N	EFO	5	EFO	skeletal system disease	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93458	"" []	5183657	\N	\N	EFO	7	EFO	disposition	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93458	"" []	4403057	\N	\N	EFO	6	EFO	disease	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93458	"" []	5998988	\N	\N	EFO	8	EFO	material property	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93458	"" []	6551968	\N	\N	EFO	9	EFO	experimental factor	Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Orphanet:93459	\N	\N	"" []	Orphanet:93459	"" []	78571	\N	\N	EFO	0	EFO	Syndrome with synostosis or other joint formation defect	Syndrome with synostosis or other joint formation defect
Orphanet:404571	Orphanet:93459	\N	"" []	Orphanet:93459	"" []	223440	\N	\N	EFO	1	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Syndrome with synostosis or other joint formation defect
Orphanet:404577	Orphanet:93459	\N	"" []	Orphanet:93459	"" []	223441	\N	\N	EFO	1	EFO	Genetic syndrome with limb malformations as a major feature	Syndrome with synostosis or other joint formation defect
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93459	"" []	580005	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Syndrome with synostosis or other joint formation defect
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:93459	"" []	580006	\N	\N	EFO	2	EFO	Genetic congenital limb malformation	Syndrome with synostosis or other joint formation defect
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93459	"" []	1163818	\N	\N	EFO	3	EFO	Rare genetic bone disease	Syndrome with synostosis or other joint formation defect
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93459	"" []	1163819	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Syndrome with synostosis or other joint formation defect
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93459	"" []	1163820	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndrome with synostosis or other joint formation defect
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93459	"" []	2047618	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with synostosis or other joint formation defect
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93459	"" []	2047619	\N	\N	EFO	4	EFO	bone disease	Syndrome with synostosis or other joint formation defect
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93459	"" []	2047620	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Syndrome with synostosis or other joint formation defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93459	"" []	3197664	\N	\N	EFO	5	EFO	genetic disorder	Syndrome with synostosis or other joint formation defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93459	"" []	4134525	\N	\N	EFO	6	EFO	disease	Syndrome with synostosis or other joint formation defect
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93459	"" []	3197663	\N	\N	EFO	5	EFO	skeletal system disease	Syndrome with synostosis or other joint formation defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93459	"" []	5183658	\N	\N	EFO	7	EFO	disposition	Syndrome with synostosis or other joint formation defect
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93459	"" []	4403059	\N	\N	EFO	6	EFO	disease	Syndrome with synostosis or other joint formation defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93459	"" []	5998989	\N	\N	EFO	8	EFO	material property	Syndrome with synostosis or other joint formation defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93459	"" []	6551969	\N	\N	EFO	9	EFO	experimental factor	Syndrome with synostosis or other joint formation defect
Orphanet:93460	\N	\N	"" []	Orphanet:93460	"" []	78572	\N	\N	EFO	0	EFO	Overgrowth syndrome	Overgrowth syndrome
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:93460	"" []	223442	\N	\N	EFO	1	EFO	Genetic overgrowth/obesity syndrome	Overgrowth syndrome
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:93460	"" []	580007	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Overgrowth syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93460	"" []	1163821	\N	\N	EFO	3	EFO	genetic disorder	Overgrowth syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93460	"" []	2047622	\N	\N	EFO	4	EFO	disease	Overgrowth syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93460	"" []	3197665	\N	\N	EFO	5	EFO	disposition	Overgrowth syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93460	"" []	4403060	\N	\N	EFO	6	EFO	material property	Overgrowth syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93460	"" []	5418907	\N	\N	EFO	7	EFO	experimental factor	Overgrowth syndrome
Orphanet:93465	\N	\N	"" []	Orphanet:93465	"" []	78573	\N	\N	EFO	0	EFO	Lethal chondrodysplasia	Lethal chondrodysplasia
Orphanet:364526	Orphanet:93465	\N	"" []	Orphanet:93465	"" []	223443	\N	\N	EFO	1	EFO	Primary bone dysplasia	Lethal chondrodysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:93465	"" []	580008	\N	\N	EFO	2	EFO	Rare genetic bone disease	Lethal chondrodysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:93465	"" []	580009	\N	\N	EFO	2	EFO	Rare genetic bone development disorder	Lethal chondrodysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93465	"" []	1163822	\N	\N	EFO	3	EFO	genetic disorder	Lethal chondrodysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93465	"" []	1163823	\N	\N	EFO	3	EFO	bone disease	Lethal chondrodysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93465	"" []	1163824	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Lethal chondrodysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93465	"" []	3197668	\N	\N	EFO	5	EFO	disease	Lethal chondrodysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93465	"" []	2047624	\N	\N	EFO	4	EFO	skeletal system disease	Lethal chondrodysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93465	"" []	2047625	\N	\N	EFO	4	EFO	genetic disorder	Lethal chondrodysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93465	"" []	4134526	\N	\N	EFO	6	EFO	disposition	Lethal chondrodysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93465	"" []	3197667	\N	\N	EFO	5	EFO	disease	Lethal chondrodysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93465	"" []	5183659	\N	\N	EFO	7	EFO	material property	Lethal chondrodysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93465	"" []	5998990	\N	\N	EFO	8	EFO	experimental factor	Lethal chondrodysplasia
Orphanet:93473	\N	\N	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	78574	\N	\N	EFO	0	EFO	Hurler syndrome	Hurler syndrome
Orphanet:217581	Orphanet:93473	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	223444	\N	\N	EFO	1	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Hurler syndrome
Orphanet:217638	Orphanet:93473	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	223445	\N	\N	EFO	1	EFO	Lysosomal disease with restrictive cardiomyopathy	Hurler syndrome
Orphanet:579	Orphanet:93473	\N	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	223446	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 1	Hurler syndrome
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	580010	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Hurler syndrome
Orphanet:217635	Orphanet:217638	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	580011	\N	\N	EFO	2	EFO	Familial restrictive cardiomyopathy	Hurler syndrome
Orphanet:68385	Orphanet:579	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	580012	\N	\N	EFO	2	EFO	Neurometabolic disease	Hurler syndrome
Orphanet:79213	Orphanet:579	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	580013	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Hurler syndrome
Orphanet:93448	Orphanet:579	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	580014	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Hurler syndrome
Orphanet:98596	Orphanet:579	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	580015	\N	\N	EFO	2	EFO	Eyebrow hypertrophy	Hurler syndrome
Orphanet:98711	Orphanet:579	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	580016	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Hurler syndrome
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	1163825	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Hurler syndrome
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	1163826	\N	\N	EFO	3	EFO	cardiomyopathy	Hurler syndrome
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	1163827	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Hurler syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	1163828	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hurler syndrome
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	1163829	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Hurler syndrome
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	1163830	\N	\N	EFO	3	EFO	Lysosomal disease	Hurler syndrome
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	1163831	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Hurler syndrome
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	1163832	\N	\N	EFO	3	EFO	Rare genetic bone disease	Hurler syndrome
Orphanet:98594	Orphanet:98596	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	1163833	\N	\N	EFO	3	EFO	Rare eyebrow/eyelashes anomaly	Hurler syndrome
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	1163834	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Hurler syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	2047626	\N	\N	EFO	4	EFO	genetic disorder	Hurler syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	2047627	\N	\N	EFO	4	EFO	heart disease	Hurler syndrome
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	2047628	\N	\N	EFO	4	EFO	heart disease	Hurler syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	2047629	\N	\N	EFO	4	EFO	genetic disorder	Hurler syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	2047630	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hurler syndrome
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	2047631	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hurler syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	2047632	\N	\N	EFO	4	EFO	Rare genetic eye disease	Hurler syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	2047633	\N	\N	EFO	4	EFO	genetic disorder	Hurler syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	2047634	\N	\N	EFO	4	EFO	bone disease	Hurler syndrome
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	2047635	\N	\N	EFO	4	EFO	Rare palpebral disease	Hurler syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	2047636	\N	\N	EFO	4	EFO	Rare genetic eye disease	Hurler syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	5877867	\N	\N	EFO	8	EFO	disease	Hurler syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	3197670	\N	\N	EFO	5	EFO	cardiovascular disease	Hurler syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	3197671	\N	\N	EFO	5	EFO	genetic disorder	Hurler syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	3197672	\N	\N	EFO	5	EFO	genetic disorder	Hurler syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	3197673	\N	\N	EFO	5	EFO	metabolic disease	Hurler syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	5418910	\N	\N	EFO	7	EFO	genetic disorder	Hurler syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	5418911	\N	\N	EFO	7	EFO	eye disease	Hurler syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	3197676	\N	\N	EFO	5	EFO	skeletal system disease	Hurler syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	3197677	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Hurler syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	6410421	\N	\N	EFO	9	EFO	disposition	Hurler syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	4403063	\N	\N	EFO	6	EFO	disease	Hurler syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	4403065	\N	\N	EFO	6	EFO	disease	Hurler syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	5877868	\N	\N	EFO	8	EFO	disease	Hurler syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	4403067	\N	\N	EFO	6	EFO	disease	Hurler syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	4403068	\N	\N	EFO	6	EFO	Rare genetic eye disease	Hurler syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	6808222	\N	\N	EFO	10	EFO	material property	Hurler syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93473	"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." []	7048841	\N	\N	EFO	11	EFO	experimental factor	Hurler syndrome
Orphanet:93474	\N	\N	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	78575	\N	\N	EFO	0	EFO	Scheie syndrome	Scheie syndrome
Orphanet:579	Orphanet:93474	\N	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	223447	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 1	Scheie syndrome
Orphanet:68385	Orphanet:579	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	580017	\N	\N	EFO	2	EFO	Neurometabolic disease	Scheie syndrome
Orphanet:79213	Orphanet:579	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	580018	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Scheie syndrome
Orphanet:93448	Orphanet:579	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	580019	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Scheie syndrome
Orphanet:98596	Orphanet:579	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	580020	\N	\N	EFO	2	EFO	Eyebrow hypertrophy	Scheie syndrome
Orphanet:98711	Orphanet:579	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	580021	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Scheie syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163835	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Scheie syndrome
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163836	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Scheie syndrome
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163837	\N	\N	EFO	3	EFO	Lysosomal disease	Scheie syndrome
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163838	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Scheie syndrome
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163839	\N	\N	EFO	3	EFO	Rare genetic bone disease	Scheie syndrome
Orphanet:98594	Orphanet:98596	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163840	\N	\N	EFO	3	EFO	Rare eyebrow/eyelashes anomaly	Scheie syndrome
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163841	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Scheie syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047637	\N	\N	EFO	4	EFO	genetic disorder	Scheie syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047638	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Scheie syndrome
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047639	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Scheie syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047640	\N	\N	EFO	4	EFO	Rare genetic eye disease	Scheie syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047641	\N	\N	EFO	4	EFO	genetic disorder	Scheie syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047642	\N	\N	EFO	4	EFO	bone disease	Scheie syndrome
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047643	\N	\N	EFO	4	EFO	Rare palpebral disease	Scheie syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047644	\N	\N	EFO	4	EFO	Rare genetic eye disease	Scheie syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	5877869	\N	\N	EFO	8	EFO	disease	Scheie syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	3197679	\N	\N	EFO	5	EFO	genetic disorder	Scheie syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	3197680	\N	\N	EFO	5	EFO	genetic disorder	Scheie syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	3197681	\N	\N	EFO	5	EFO	metabolic disease	Scheie syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	5418913	\N	\N	EFO	7	EFO	genetic disorder	Scheie syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	5418914	\N	\N	EFO	7	EFO	eye disease	Scheie syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	3197684	\N	\N	EFO	5	EFO	skeletal system disease	Scheie syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	3197685	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Scheie syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	6410422	\N	\N	EFO	9	EFO	disposition	Scheie syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	4403071	\N	\N	EFO	6	EFO	disease	Scheie syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	5877870	\N	\N	EFO	8	EFO	disease	Scheie syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	4403073	\N	\N	EFO	6	EFO	disease	Scheie syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	4403074	\N	\N	EFO	6	EFO	Rare genetic eye disease	Scheie syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	6808223	\N	\N	EFO	10	EFO	material property	Scheie syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93474	"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	7048842	\N	\N	EFO	11	EFO	experimental factor	Scheie syndrome
Orphanet:93476	\N	\N	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	78576	\N	\N	EFO	0	EFO	Hurler-Scheie syndrome	Hurler-Scheie syndrome
Orphanet:217581	Orphanet:93476	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	223448	\N	\N	EFO	1	EFO	Lysosomal disease with hypertrophic cardiomyopathy	Hurler-Scheie syndrome
Orphanet:579	Orphanet:93476	\N	"Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	223449	\N	\N	EFO	1	EFO	Mucopolysaccharidosis type 1	Hurler-Scheie syndrome
Orphanet:99739	Orphanet:217581	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	580022	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Hurler-Scheie syndrome
Orphanet:68385	Orphanet:579	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	580023	\N	\N	EFO	2	EFO	Neurometabolic disease	Hurler-Scheie syndrome
Orphanet:79213	Orphanet:579	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	580024	\N	\N	EFO	2	EFO	Mucopolysaccharidosis	Hurler-Scheie syndrome
Orphanet:93448	Orphanet:579	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	580025	\N	\N	EFO	2	EFO	Lysosomal storage disease with skeletal involvement	Hurler-Scheie syndrome
Orphanet:98596	Orphanet:579	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	580026	\N	\N	EFO	2	EFO	Eyebrow hypertrophy	Hurler-Scheie syndrome
Orphanet:98711	Orphanet:579	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	580027	\N	\N	EFO	2	EFO	Metabolic disease with corneal opacity	Hurler-Scheie syndrome
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163842	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Hurler-Scheie syndrome
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163843	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hurler-Scheie syndrome
Orphanet:139009	Orphanet:79213	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163844	\N	\N	EFO	3	EFO	Developmental anomaly of metabolic origin	Hurler-Scheie syndrome
Orphanet:68366	Orphanet:79213	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163845	\N	\N	EFO	3	EFO	Lysosomal disease	Hurler-Scheie syndrome
Orphanet:98638	Orphanet:79213	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163846	\N	\N	EFO	3	EFO	Rare disease with glaucoma as a major feature	Hurler-Scheie syndrome
Orphanet:183524	Orphanet:93448	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163847	\N	\N	EFO	3	EFO	Rare genetic bone disease	Hurler-Scheie syndrome
Orphanet:98594	Orphanet:98596	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163848	\N	\N	EFO	3	EFO	Rare eyebrow/eyelashes anomaly	Hurler-Scheie syndrome
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	1163849	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Hurler-Scheie syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047645	\N	\N	EFO	4	EFO	genetic disorder	Hurler-Scheie syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047646	\N	\N	EFO	4	EFO	heart disease	Hurler-Scheie syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047647	\N	\N	EFO	4	EFO	genetic disorder	Hurler-Scheie syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047648	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hurler-Scheie syndrome
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047649	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hurler-Scheie syndrome
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047650	\N	\N	EFO	4	EFO	Rare genetic eye disease	Hurler-Scheie syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047651	\N	\N	EFO	4	EFO	genetic disorder	Hurler-Scheie syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047652	\N	\N	EFO	4	EFO	bone disease	Hurler-Scheie syndrome
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047653	\N	\N	EFO	4	EFO	Rare palpebral disease	Hurler-Scheie syndrome
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	2047654	\N	\N	EFO	4	EFO	Rare genetic eye disease	Hurler-Scheie syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	5877871	\N	\N	EFO	8	EFO	disease	Hurler-Scheie syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	3197687	\N	\N	EFO	5	EFO	cardiovascular disease	Hurler-Scheie syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	3197688	\N	\N	EFO	5	EFO	genetic disorder	Hurler-Scheie syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	3197689	\N	\N	EFO	5	EFO	genetic disorder	Hurler-Scheie syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	3197690	\N	\N	EFO	5	EFO	metabolic disease	Hurler-Scheie syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	5418916	\N	\N	EFO	7	EFO	genetic disorder	Hurler-Scheie syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	5418917	\N	\N	EFO	7	EFO	eye disease	Hurler-Scheie syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	3197693	\N	\N	EFO	5	EFO	skeletal system disease	Hurler-Scheie syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	3197694	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Hurler-Scheie syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	6410423	\N	\N	EFO	9	EFO	disposition	Hurler-Scheie syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	4403076	\N	\N	EFO	6	EFO	disease	Hurler-Scheie syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	4403078	\N	\N	EFO	6	EFO	disease	Hurler-Scheie syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	5877872	\N	\N	EFO	8	EFO	disease	Hurler-Scheie syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	4403080	\N	\N	EFO	6	EFO	disease	Hurler-Scheie syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	4403081	\N	\N	EFO	6	EFO	Rare genetic eye disease	Hurler-Scheie syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	6808224	\N	\N	EFO	10	EFO	material property	Hurler-Scheie syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93476	"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." []	7048843	\N	\N	EFO	11	EFO	experimental factor	Hurler-Scheie syndrome
Orphanet:935	\N	\N	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	78577	\N	\N	EFO	0	EFO	Short-limb skeletal dysplasia with severe combined immunodeficiency	Short-limb skeletal dysplasia with severe combined immunodeficiency
Orphanet:317419	Orphanet:935	\N	"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	223450	\N	\N	EFO	1	EFO	T-B- severe combined immunodeficiency	Short-limb skeletal dysplasia with severe combined immunodeficiency
Orphanet:183660	Orphanet:317419	\N	"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	580028	\N	\N	EFO	2	EFO	Severe combined immunodeficiency	Short-limb skeletal dysplasia with severe combined immunodeficiency
Orphanet:101972	Orphanet:183660	\N	"" []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	1163850	\N	\N	EFO	3	EFO	Combined T and B cell immunodeficiency	Short-limb skeletal dysplasia with severe combined immunodeficiency
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	2047655	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in adaptive immunity	Short-limb skeletal dysplasia with severe combined immunodeficiency
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	3197695	\N	\N	EFO	5	EFO	Primary immunodeficiency	Short-limb skeletal dysplasia with severe combined immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	4403082	\N	\N	EFO	6	EFO	Rare genetic immune disease	Short-limb skeletal dysplasia with severe combined immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	5418918	\N	\N	EFO	7	EFO	genetic disorder	Short-limb skeletal dysplasia with severe combined immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	5418919	\N	\N	EFO	7	EFO	immune system disease	Short-limb skeletal dysplasia with severe combined immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	6153292	\N	\N	EFO	8	EFO	disease	Short-limb skeletal dysplasia with severe combined immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	6153293	\N	\N	EFO	8	EFO	disease	Short-limb skeletal dysplasia with severe combined immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	6634348	\N	\N	EFO	9	EFO	disposition	Short-limb skeletal dysplasia with severe combined immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	6926313	\N	\N	EFO	10	EFO	material property	Short-limb skeletal dysplasia with severe combined immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:935	"Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." []	7099334	\N	\N	EFO	11	EFO	experimental factor	Short-limb skeletal dysplasia with severe combined immunodeficiency
Orphanet:93547	\N	\N	"" []	Orphanet:93547	"" []	78578	\N	\N	EFO	0	EFO	Syndromic renal or urinary tract malformation	Syndromic renal or urinary tract malformation
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:93547	"" []	223451	\N	\N	EFO	1	EFO	Genetic renal or urinary tract malformation	Syndromic renal or urinary tract malformation
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:93547	"" []	580029	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Syndromic renal or urinary tract malformation
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:93547	"" []	580030	\N	\N	EFO	2	EFO	Rare genetic renal disease	Syndromic renal or urinary tract malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93547	"" []	1163851	\N	\N	EFO	3	EFO	genetic disorder	Syndromic renal or urinary tract malformation
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93547	"" []	1163852	\N	\N	EFO	3	EFO	genetic disorder	Syndromic renal or urinary tract malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93547	"" []	2047656	\N	\N	EFO	4	EFO	disease	Syndromic renal or urinary tract malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93547	"" []	3197696	\N	\N	EFO	5	EFO	disposition	Syndromic renal or urinary tract malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93547	"" []	4403083	\N	\N	EFO	6	EFO	material property	Syndromic renal or urinary tract malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93547	"" []	5418920	\N	\N	EFO	7	EFO	experimental factor	Syndromic renal or urinary tract malformation
Orphanet:93550	\N	\N	"" []	Orphanet:93550	"" []	78579	\N	\N	EFO	0	EFO	Basement membrane disease	Basement membrane disease
Orphanet:183586	Orphanet:93550	\N	"" []	Orphanet:93550	"" []	223452	\N	\N	EFO	1	EFO	Genetic glomerular disease	Basement membrane disease
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93550	"" []	580031	\N	\N	EFO	2	EFO	Rare genetic renal disease	Basement membrane disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93550	"" []	1163853	\N	\N	EFO	3	EFO	genetic disorder	Basement membrane disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93550	"" []	2047657	\N	\N	EFO	4	EFO	disease	Basement membrane disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93550	"" []	3197697	\N	\N	EFO	5	EFO	disposition	Basement membrane disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93550	"" []	4403084	\N	\N	EFO	6	EFO	material property	Basement membrane disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93550	"" []	5418921	\N	\N	EFO	7	EFO	experimental factor	Basement membrane disease
Orphanet:93560	\N	\N	"" []	Orphanet:93560	"" []	78580	\N	\N	EFO	0	EFO	Familial renal amyloidosis due to Apolipoprotein AI variant	Familial renal amyloidosis due to Apolipoprotein AI variant
Orphanet:85450	Orphanet:93560	\N	"" []	Orphanet:93560	"" []	223453	\N	\N	EFO	1	EFO	Familial renal amyloidosis	Familial renal amyloidosis due to Apolipoprotein AI variant
Orphanet:183586	Orphanet:85450	\N	"" []	Orphanet:93560	"" []	580032	\N	\N	EFO	2	EFO	Genetic glomerular disease	Familial renal amyloidosis due to Apolipoprotein AI variant
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93560	"" []	1163854	\N	\N	EFO	3	EFO	Rare genetic renal disease	Familial renal amyloidosis due to Apolipoprotein AI variant
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93560	"" []	2047658	\N	\N	EFO	4	EFO	genetic disorder	Familial renal amyloidosis due to Apolipoprotein AI variant
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93560	"" []	3197698	\N	\N	EFO	5	EFO	disease	Familial renal amyloidosis due to Apolipoprotein AI variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93560	"" []	4403085	\N	\N	EFO	6	EFO	disposition	Familial renal amyloidosis due to Apolipoprotein AI variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93560	"" []	5418922	\N	\N	EFO	7	EFO	material property	Familial renal amyloidosis due to Apolipoprotein AI variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93560	"" []	6153294	\N	\N	EFO	8	EFO	experimental factor	Familial renal amyloidosis due to Apolipoprotein AI variant
Orphanet:93561	\N	\N	"" []	Orphanet:93561	"" []	78581	\N	\N	EFO	0	EFO	Familial renal amyloidosis due to lysozyme variant	Familial renal amyloidosis due to lysozyme variant
Orphanet:85450	Orphanet:93561	\N	"" []	Orphanet:93561	"" []	223454	\N	\N	EFO	1	EFO	Familial renal amyloidosis	Familial renal amyloidosis due to lysozyme variant
Orphanet:183586	Orphanet:85450	\N	"" []	Orphanet:93561	"" []	580033	\N	\N	EFO	2	EFO	Genetic glomerular disease	Familial renal amyloidosis due to lysozyme variant
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93561	"" []	1163855	\N	\N	EFO	3	EFO	Rare genetic renal disease	Familial renal amyloidosis due to lysozyme variant
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93561	"" []	2047659	\N	\N	EFO	4	EFO	genetic disorder	Familial renal amyloidosis due to lysozyme variant
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93561	"" []	3197699	\N	\N	EFO	5	EFO	disease	Familial renal amyloidosis due to lysozyme variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93561	"" []	4403086	\N	\N	EFO	6	EFO	disposition	Familial renal amyloidosis due to lysozyme variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93561	"" []	5418923	\N	\N	EFO	7	EFO	material property	Familial renal amyloidosis due to lysozyme variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93561	"" []	6153295	\N	\N	EFO	8	EFO	experimental factor	Familial renal amyloidosis due to lysozyme variant
Orphanet:93562	\N	\N	"" []	Orphanet:93562	"" []	78582	\N	\N	EFO	0	EFO	Familial renal amyloidosis due to fibrinogen A alpha-chain variant	Familial renal amyloidosis due to fibrinogen A alpha-chain variant
Orphanet:85450	Orphanet:93562	\N	"" []	Orphanet:93562	"" []	223455	\N	\N	EFO	1	EFO	Familial renal amyloidosis	Familial renal amyloidosis due to fibrinogen A alpha-chain variant
Orphanet:183586	Orphanet:85450	\N	"" []	Orphanet:93562	"" []	580034	\N	\N	EFO	2	EFO	Genetic glomerular disease	Familial renal amyloidosis due to fibrinogen A alpha-chain variant
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93562	"" []	1163856	\N	\N	EFO	3	EFO	Rare genetic renal disease	Familial renal amyloidosis due to fibrinogen A alpha-chain variant
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93562	"" []	2047660	\N	\N	EFO	4	EFO	genetic disorder	Familial renal amyloidosis due to fibrinogen A alpha-chain variant
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93562	"" []	3197700	\N	\N	EFO	5	EFO	disease	Familial renal amyloidosis due to fibrinogen A alpha-chain variant
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93562	"" []	4403087	\N	\N	EFO	6	EFO	disposition	Familial renal amyloidosis due to fibrinogen A alpha-chain variant
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93562	"" []	5418924	\N	\N	EFO	7	EFO	material property	Familial renal amyloidosis due to fibrinogen A alpha-chain variant
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93562	"" []	6153296	\N	\N	EFO	8	EFO	experimental factor	Familial renal amyloidosis due to fibrinogen A alpha-chain variant
Orphanet:93571	\N	\N	"Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." []	Orphanet:93571	"Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." []	78583	\N	\N	EFO	0	EFO	Dense deposit disease	Dense deposit disease
Orphanet:329918	Orphanet:93571	\N	"" []	Orphanet:93571	"Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." []	223456	\N	\N	EFO	1	EFO	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis	Dense deposit disease
Orphanet:54370	Orphanet:329918	\N	"Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." []	Orphanet:93571	"Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." []	580035	\N	\N	EFO	2	EFO	Primary membranoproliferative glomerulonephritis	Dense deposit disease
Orphanet:102373	Orphanet:54370	\N	"" []	Orphanet:93571	"Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." []	1163857	\N	\N	EFO	3	EFO	Primary glomerular disease	Dense deposit disease
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:93571	"Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." []	2047661	\N	\N	EFO	4	EFO	Genetic glomerular disease	Dense deposit disease
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:93571	"Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." []	3197701	\N	\N	EFO	5	EFO	Rare genetic renal disease	Dense deposit disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93571	"Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." []	4403088	\N	\N	EFO	6	EFO	genetic disorder	Dense deposit disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93571	"Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." []	5418925	\N	\N	EFO	7	EFO	disease	Dense deposit disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93571	"Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." []	6153297	\N	\N	EFO	8	EFO	disposition	Dense deposit disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93571	"Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." []	6634349	\N	\N	EFO	9	EFO	material property	Dense deposit disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93571	"Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." []	6926314	\N	\N	EFO	10	EFO	experimental factor	Dense deposit disease
Orphanet:93575	\N	\N	"" []	Orphanet:93575	"" []	78584	\N	\N	EFO	0	EFO	Atypical hemolytic-uremic syndrome with C3 anomaly	Atypical hemolytic-uremic syndrome with C3 anomaly
Orphanet:2134	Orphanet:93575	\N	"" []	Orphanet:93575	"" []	223457	\N	\N	EFO	1	EFO	Atypical hemolytic-uremic syndrome	Atypical hemolytic-uremic syndrome with C3 anomaly
Orphanet:182043	Orphanet:2134	\N	"" []	Orphanet:93575	"" []	580036	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Atypical hemolytic-uremic syndrome with C3 anomaly
Orphanet:183589	Orphanet:2134	\N	"" []	Orphanet:93575	"" []	580037	\N	\N	EFO	2	EFO	Genetic thrombotic microangiopathy	Atypical hemolytic-uremic syndrome with C3 anomaly
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:93575	"" []	1163858	\N	\N	EFO	3	EFO	Rare constitutional anemia	Atypical hemolytic-uremic syndrome with C3 anomaly
Orphanet:98056	Orphanet:183589	\N	"" []	Orphanet:93575	"" []	1163859	\N	\N	EFO	3	EFO	Rare genetic renal disease	Atypical hemolytic-uremic syndrome with C3 anomaly
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:93575	"" []	2047662	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Atypical hemolytic-uremic syndrome with C3 anomaly
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93575	"" []	2047663	\N	\N	EFO	4	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with C3 anomaly
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93575	"" []	3197702	\N	\N	EFO	5	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with C3 anomaly
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:93575	"" []	3197703	\N	\N	EFO	5	EFO	hematological system disease	Atypical hemolytic-uremic syndrome with C3 anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93575	"" []	4403089	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with C3 anomaly
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93575	"" []	4403090	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with C3 anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93575	"" []	5183663	\N	\N	EFO	7	EFO	disposition	Atypical hemolytic-uremic syndrome with C3 anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93575	"" []	5998994	\N	\N	EFO	8	EFO	material property	Atypical hemolytic-uremic syndrome with C3 anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93575	"" []	6551973	\N	\N	EFO	9	EFO	experimental factor	Atypical hemolytic-uremic syndrome with C3 anomaly
Orphanet:93576	\N	\N	"" []	Orphanet:93576	"" []	78585	\N	\N	EFO	0	EFO	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Orphanet:2134	Orphanet:93576	\N	"" []	Orphanet:93576	"" []	223458	\N	\N	EFO	1	EFO	Atypical hemolytic-uremic syndrome	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Orphanet:182043	Orphanet:2134	\N	"" []	Orphanet:93576	"" []	580038	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Orphanet:183589	Orphanet:2134	\N	"" []	Orphanet:93576	"" []	580039	\N	\N	EFO	2	EFO	Genetic thrombotic microangiopathy	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:93576	"" []	1163860	\N	\N	EFO	3	EFO	Rare constitutional anemia	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Orphanet:98056	Orphanet:183589	\N	"" []	Orphanet:93576	"" []	1163861	\N	\N	EFO	3	EFO	Rare genetic renal disease	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:93576	"" []	2047664	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93576	"" []	2047665	\N	\N	EFO	4	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93576	"" []	3197705	\N	\N	EFO	5	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:93576	"" []	3197706	\N	\N	EFO	5	EFO	hematological system disease	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93576	"" []	4403092	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93576	"" []	4403093	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93576	"" []	5183664	\N	\N	EFO	7	EFO	disposition	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93576	"" []	5998995	\N	\N	EFO	8	EFO	material property	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93576	"" []	6551974	\N	\N	EFO	9	EFO	experimental factor	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Orphanet:93578	\N	\N	"" []	Orphanet:93578	"" []	78586	\N	\N	EFO	0	EFO	Atypical hemolytic-uremic syndrome with B factor anomaly	Atypical hemolytic-uremic syndrome with B factor anomaly
Orphanet:2134	Orphanet:93578	\N	"" []	Orphanet:93578	"" []	223459	\N	\N	EFO	1	EFO	Atypical hemolytic-uremic syndrome	Atypical hemolytic-uremic syndrome with B factor anomaly
Orphanet:182043	Orphanet:2134	\N	"" []	Orphanet:93578	"" []	580040	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Atypical hemolytic-uremic syndrome with B factor anomaly
Orphanet:183589	Orphanet:2134	\N	"" []	Orphanet:93578	"" []	580041	\N	\N	EFO	2	EFO	Genetic thrombotic microangiopathy	Atypical hemolytic-uremic syndrome with B factor anomaly
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:93578	"" []	1163862	\N	\N	EFO	3	EFO	Rare constitutional anemia	Atypical hemolytic-uremic syndrome with B factor anomaly
Orphanet:98056	Orphanet:183589	\N	"" []	Orphanet:93578	"" []	1163863	\N	\N	EFO	3	EFO	Rare genetic renal disease	Atypical hemolytic-uremic syndrome with B factor anomaly
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:93578	"" []	2047666	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Atypical hemolytic-uremic syndrome with B factor anomaly
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93578	"" []	2047667	\N	\N	EFO	4	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with B factor anomaly
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93578	"" []	3197708	\N	\N	EFO	5	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with B factor anomaly
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:93578	"" []	3197709	\N	\N	EFO	5	EFO	hematological system disease	Atypical hemolytic-uremic syndrome with B factor anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93578	"" []	4403095	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with B factor anomaly
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93578	"" []	4403096	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with B factor anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93578	"" []	5183665	\N	\N	EFO	7	EFO	disposition	Atypical hemolytic-uremic syndrome with B factor anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93578	"" []	5998996	\N	\N	EFO	8	EFO	material property	Atypical hemolytic-uremic syndrome with B factor anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93578	"" []	6551975	\N	\N	EFO	9	EFO	experimental factor	Atypical hemolytic-uremic syndrome with B factor anomaly
Orphanet:93579	\N	\N	"" []	Orphanet:93579	"" []	78587	\N	\N	EFO	0	EFO	Atypical hemolytic-uremic syndrome with H factor anomaly	Atypical hemolytic-uremic syndrome with H factor anomaly
Orphanet:2134	Orphanet:93579	\N	"" []	Orphanet:93579	"" []	223460	\N	\N	EFO	1	EFO	Atypical hemolytic-uremic syndrome	Atypical hemolytic-uremic syndrome with H factor anomaly
Orphanet:182043	Orphanet:2134	\N	"" []	Orphanet:93579	"" []	580042	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Atypical hemolytic-uremic syndrome with H factor anomaly
Orphanet:183589	Orphanet:2134	\N	"" []	Orphanet:93579	"" []	580043	\N	\N	EFO	2	EFO	Genetic thrombotic microangiopathy	Atypical hemolytic-uremic syndrome with H factor anomaly
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:93579	"" []	1163864	\N	\N	EFO	3	EFO	Rare constitutional anemia	Atypical hemolytic-uremic syndrome with H factor anomaly
Orphanet:98056	Orphanet:183589	\N	"" []	Orphanet:93579	"" []	1163865	\N	\N	EFO	3	EFO	Rare genetic renal disease	Atypical hemolytic-uremic syndrome with H factor anomaly
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:93579	"" []	2047668	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Atypical hemolytic-uremic syndrome with H factor anomaly
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93579	"" []	2047669	\N	\N	EFO	4	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with H factor anomaly
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93579	"" []	3197711	\N	\N	EFO	5	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with H factor anomaly
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:93579	"" []	3197712	\N	\N	EFO	5	EFO	hematological system disease	Atypical hemolytic-uremic syndrome with H factor anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93579	"" []	4403098	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with H factor anomaly
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93579	"" []	4403099	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with H factor anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93579	"" []	5183666	\N	\N	EFO	7	EFO	disposition	Atypical hemolytic-uremic syndrome with H factor anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93579	"" []	5998997	\N	\N	EFO	8	EFO	material property	Atypical hemolytic-uremic syndrome with H factor anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93579	"" []	6551976	\N	\N	EFO	9	EFO	experimental factor	Atypical hemolytic-uremic syndrome with H factor anomaly
Orphanet:93580	\N	\N	"" []	Orphanet:93580	"" []	78588	\N	\N	EFO	0	EFO	Atypical hemolytic-uremic syndrome with I factor anomaly	Atypical hemolytic-uremic syndrome with I factor anomaly
Orphanet:2134	Orphanet:93580	\N	"" []	Orphanet:93580	"" []	223461	\N	\N	EFO	1	EFO	Atypical hemolytic-uremic syndrome	Atypical hemolytic-uremic syndrome with I factor anomaly
Orphanet:182043	Orphanet:2134	\N	"" []	Orphanet:93580	"" []	580044	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Atypical hemolytic-uremic syndrome with I factor anomaly
Orphanet:183589	Orphanet:2134	\N	"" []	Orphanet:93580	"" []	580045	\N	\N	EFO	2	EFO	Genetic thrombotic microangiopathy	Atypical hemolytic-uremic syndrome with I factor anomaly
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:93580	"" []	1163866	\N	\N	EFO	3	EFO	Rare constitutional anemia	Atypical hemolytic-uremic syndrome with I factor anomaly
Orphanet:98056	Orphanet:183589	\N	"" []	Orphanet:93580	"" []	1163867	\N	\N	EFO	3	EFO	Rare genetic renal disease	Atypical hemolytic-uremic syndrome with I factor anomaly
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:93580	"" []	2047670	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Atypical hemolytic-uremic syndrome with I factor anomaly
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93580	"" []	2047671	\N	\N	EFO	4	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with I factor anomaly
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93580	"" []	3197714	\N	\N	EFO	5	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with I factor anomaly
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:93580	"" []	3197715	\N	\N	EFO	5	EFO	hematological system disease	Atypical hemolytic-uremic syndrome with I factor anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93580	"" []	4403101	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with I factor anomaly
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93580	"" []	4403102	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with I factor anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93580	"" []	5183667	\N	\N	EFO	7	EFO	disposition	Atypical hemolytic-uremic syndrome with I factor anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93580	"" []	5998998	\N	\N	EFO	8	EFO	material property	Atypical hemolytic-uremic syndrome with I factor anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93580	"" []	6551977	\N	\N	EFO	9	EFO	experimental factor	Atypical hemolytic-uremic syndrome with I factor anomaly
Orphanet:93581	\N	\N	"" []	Orphanet:93581	"" []	78589	\N	\N	EFO	0	EFO	Atypical hemolytic-uremic syndrome with anti-factor H antibodies	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
Orphanet:2134	Orphanet:93581	\N	"" []	Orphanet:93581	"" []	223462	\N	\N	EFO	1	EFO	Atypical hemolytic-uremic syndrome	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
Orphanet:182043	Orphanet:2134	\N	"" []	Orphanet:93581	"" []	580046	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
Orphanet:183589	Orphanet:2134	\N	"" []	Orphanet:93581	"" []	580047	\N	\N	EFO	2	EFO	Genetic thrombotic microangiopathy	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:93581	"" []	1163868	\N	\N	EFO	3	EFO	Rare constitutional anemia	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
Orphanet:98056	Orphanet:183589	\N	"" []	Orphanet:93581	"" []	1163869	\N	\N	EFO	3	EFO	Rare genetic renal disease	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:93581	"" []	2047672	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93581	"" []	2047673	\N	\N	EFO	4	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93581	"" []	3197717	\N	\N	EFO	5	EFO	genetic disorder	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:93581	"" []	3197718	\N	\N	EFO	5	EFO	hematological system disease	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93581	"" []	4403104	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93581	"" []	4403105	\N	\N	EFO	6	EFO	disease	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93581	"" []	5183668	\N	\N	EFO	7	EFO	disposition	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93581	"" []	5998999	\N	\N	EFO	8	EFO	material property	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93581	"" []	6551978	\N	\N	EFO	9	EFO	experimental factor	Atypical hemolytic-uremic syndrome with anti-factor H antibodies
Orphanet:93583	\N	\N	"" []	Orphanet:93583	"" []	78590	\N	\N	EFO	0	EFO	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
Orphanet:183589	Orphanet:93583	\N	"" []	Orphanet:93583	"" []	223463	\N	\N	EFO	1	EFO	Genetic thrombotic microangiopathy	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
Orphanet:183654	Orphanet:93583	\N	"" []	Orphanet:93583	"" []	223464	\N	\N	EFO	1	EFO	Rare genetic coagulation disorder	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
Orphanet:98056	Orphanet:183589	\N	"" []	Orphanet:93583	"" []	580048	\N	\N	EFO	2	EFO	Rare genetic renal disease	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:93583	"" []	580049	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93583	"" []	1163870	\N	\N	EFO	3	EFO	genetic disorder	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93583	"" []	1163871	\N	\N	EFO	3	EFO	genetic disorder	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:93583	"" []	1163872	\N	\N	EFO	3	EFO	hematological system disease	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93583	"" []	2047674	\N	\N	EFO	4	EFO	disease	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93583	"" []	2047675	\N	\N	EFO	4	EFO	disease	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93583	"" []	3197720	\N	\N	EFO	5	EFO	disposition	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93583	"" []	4403107	\N	\N	EFO	6	EFO	material property	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93583	"" []	5418932	\N	\N	EFO	7	EFO	experimental factor	Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
Orphanet:93587	\N	\N	"" []	Orphanet:93587	"" []	78591	\N	\N	EFO	0	EFO	Familial cystic renal disease	Familial cystic renal disease
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:93587	"" []	223465	\N	\N	EFO	1	EFO	kidney disease	Familial cystic renal disease
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:93587	"" []	223466	\N	\N	EFO	1	EFO	Rare genetic renal disease	Familial cystic renal disease
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93587	"" []	580050	\N	\N	EFO	2	EFO	disease	Familial cystic renal disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93587	"" []	580051	\N	\N	EFO	2	EFO	genetic disorder	Familial cystic renal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93587	"" []	2047677	\N	\N	EFO	4	EFO	disposition	Familial cystic renal disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93587	"" []	1163874	\N	\N	EFO	3	EFO	disease	Familial cystic renal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93587	"" []	3000486	\N	\N	EFO	5	EFO	material property	Familial cystic renal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93587	"" []	4134527	\N	\N	EFO	6	EFO	experimental factor	Familial cystic renal disease
Orphanet:93589	\N	\N	"" []	Orphanet:93589	"" []	78592	\N	\N	EFO	0	EFO	Late-onset nephronophthisis	Late-onset nephronophthisis
Orphanet:655	Orphanet:93589	\N	"" []	Orphanet:93589	"" []	223467	\N	\N	EFO	1	EFO	Nephronophthisis	Late-onset nephronophthisis
Orphanet:93587	Orphanet:655	\N	"" []	Orphanet:93589	"" []	580052	\N	\N	EFO	2	EFO	Familial cystic renal disease	Late-onset nephronophthisis
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:93589	"" []	1163875	\N	\N	EFO	3	EFO	kidney disease	Late-onset nephronophthisis
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:93589	"" []	1163876	\N	\N	EFO	3	EFO	Rare genetic renal disease	Late-onset nephronophthisis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93589	"" []	2047678	\N	\N	EFO	4	EFO	disease	Late-onset nephronophthisis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93589	"" []	2047679	\N	\N	EFO	4	EFO	genetic disorder	Late-onset nephronophthisis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93589	"" []	4403109	\N	\N	EFO	6	EFO	disposition	Late-onset nephronophthisis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93589	"" []	3197723	\N	\N	EFO	5	EFO	disease	Late-onset nephronophthisis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93589	"" []	5183669	\N	\N	EFO	7	EFO	material property	Late-onset nephronophthisis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93589	"" []	5999000	\N	\N	EFO	8	EFO	experimental factor	Late-onset nephronophthisis
Orphanet:93591	\N	\N	"" []	Orphanet:93591	"" []	78593	\N	\N	EFO	0	EFO	Infantile nephronophthisis	Infantile nephronophthisis
Orphanet:655	Orphanet:93591	\N	"" []	Orphanet:93591	"" []	223468	\N	\N	EFO	1	EFO	Nephronophthisis	Infantile nephronophthisis
Orphanet:93587	Orphanet:655	\N	"" []	Orphanet:93591	"" []	580053	\N	\N	EFO	2	EFO	Familial cystic renal disease	Infantile nephronophthisis
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:93591	"" []	1163877	\N	\N	EFO	3	EFO	kidney disease	Infantile nephronophthisis
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:93591	"" []	1163878	\N	\N	EFO	3	EFO	Rare genetic renal disease	Infantile nephronophthisis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93591	"" []	2047680	\N	\N	EFO	4	EFO	disease	Infantile nephronophthisis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93591	"" []	2047681	\N	\N	EFO	4	EFO	genetic disorder	Infantile nephronophthisis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93591	"" []	4403111	\N	\N	EFO	6	EFO	disposition	Infantile nephronophthisis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93591	"" []	3197725	\N	\N	EFO	5	EFO	disease	Infantile nephronophthisis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93591	"" []	5183670	\N	\N	EFO	7	EFO	material property	Infantile nephronophthisis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93591	"" []	5999001	\N	\N	EFO	8	EFO	experimental factor	Infantile nephronophthisis
Orphanet:93592	\N	\N	"" []	Orphanet:93592	"" []	78594	\N	\N	EFO	0	EFO	Juvenile nephronophthisis	Juvenile nephronophthisis
Orphanet:655	Orphanet:93592	\N	"" []	Orphanet:93592	"" []	223469	\N	\N	EFO	1	EFO	Nephronophthisis	Juvenile nephronophthisis
Orphanet:93587	Orphanet:655	\N	"" []	Orphanet:93592	"" []	580054	\N	\N	EFO	2	EFO	Familial cystic renal disease	Juvenile nephronophthisis
EFO:0003086	Orphanet:93587	\N	"A disease affecting the kidneys" []	Orphanet:93592	"" []	1163879	\N	\N	EFO	3	EFO	kidney disease	Juvenile nephronophthisis
Orphanet:98056	Orphanet:93587	\N	"" []	Orphanet:93592	"" []	1163880	\N	\N	EFO	3	EFO	Rare genetic renal disease	Juvenile nephronophthisis
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93592	"" []	2047682	\N	\N	EFO	4	EFO	disease	Juvenile nephronophthisis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93592	"" []	2047683	\N	\N	EFO	4	EFO	genetic disorder	Juvenile nephronophthisis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93592	"" []	4403113	\N	\N	EFO	6	EFO	disposition	Juvenile nephronophthisis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93592	"" []	3197727	\N	\N	EFO	5	EFO	disease	Juvenile nephronophthisis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93592	"" []	5183671	\N	\N	EFO	7	EFO	material property	Juvenile nephronophthisis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93592	"" []	5999002	\N	\N	EFO	8	EFO	experimental factor	Juvenile nephronophthisis
Orphanet:93593	\N	\N	"" []	Orphanet:93593	"" []	78595	\N	\N	EFO	0	EFO	Nephropathy secondary to a storage or other metabolic disease	Nephropathy secondary to a storage or other metabolic disease
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:93593	"" []	223470	\N	\N	EFO	1	EFO	Rare genetic renal disease	Nephropathy secondary to a storage or other metabolic disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93593	"" []	580055	\N	\N	EFO	2	EFO	genetic disorder	Nephropathy secondary to a storage or other metabolic disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93593	"" []	1163881	\N	\N	EFO	3	EFO	disease	Nephropathy secondary to a storage or other metabolic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93593	"" []	2047684	\N	\N	EFO	4	EFO	disposition	Nephropathy secondary to a storage or other metabolic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93593	"" []	3197728	\N	\N	EFO	5	EFO	material property	Nephropathy secondary to a storage or other metabolic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93593	"" []	4403114	\N	\N	EFO	6	EFO	experimental factor	Nephropathy secondary to a storage or other metabolic disease
Orphanet:93594	\N	\N	"" []	Orphanet:93594	"" []	78596	\N	\N	EFO	0	EFO	Alpha-1-antichymotrypsin deficiency	Alpha-1-antichymotrypsin deficiency
Orphanet:101940	Orphanet:93594	\N	"" []	Orphanet:93594	"" []	223471	\N	\N	EFO	1	EFO	Rare metabolic liver disease	Alpha-1-antichymotrypsin deficiency
Orphanet:156610	Orphanet:93594	\N	"" []	Orphanet:93594	"" []	223472	\N	\N	EFO	1	EFO	Rare genetic respiratory disease	Alpha-1-antichymotrypsin deficiency
Orphanet:91088	Orphanet:93594	\N	"" []	Orphanet:93594	"" []	223473	\N	\N	EFO	1	EFO	Other metabolic disease	Alpha-1-antichymotrypsin deficiency
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:93594	"" []	580056	\N	\N	EFO	2	EFO	Rare genetic hepatic disease	Alpha-1-antichymotrypsin deficiency
EFO:0000508	Orphanet:156610	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93594	"" []	580057	\N	\N	EFO	2	EFO	genetic disorder	Alpha-1-antichymotrypsin deficiency
EFO:0000684	Orphanet:156610	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:93594	"" []	580058	\N	\N	EFO	2	EFO	respiratory system disease	Alpha-1-antichymotrypsin deficiency
Orphanet:68367	Orphanet:91088	\N	"" []	Orphanet:93594	"" []	580059	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Alpha-1-antichymotrypsin deficiency
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:93594	"" []	1163882	\N	\N	EFO	3	EFO	digestive system disease	Alpha-1-antichymotrypsin deficiency
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93594	"" []	1163883	\N	\N	EFO	3	EFO	genetic disorder	Alpha-1-antichymotrypsin deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93594	"" []	2047686	\N	\N	EFO	4	EFO	disease	Alpha-1-antichymotrypsin deficiency
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93594	"" []	1163885	\N	\N	EFO	3	EFO	disease	Alpha-1-antichymotrypsin deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93594	"" []	1163886	\N	\N	EFO	3	EFO	genetic disorder	Alpha-1-antichymotrypsin deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93594	"" []	1163887	\N	\N	EFO	3	EFO	metabolic disease	Alpha-1-antichymotrypsin deficiency
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93594	"" []	2047685	\N	\N	EFO	4	EFO	disease	Alpha-1-antichymotrypsin deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93594	"" []	3000487	\N	\N	EFO	5	EFO	disposition	Alpha-1-antichymotrypsin deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93594	"" []	2047688	\N	\N	EFO	4	EFO	disease	Alpha-1-antichymotrypsin deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93594	"" []	4134528	\N	\N	EFO	6	EFO	material property	Alpha-1-antichymotrypsin deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93594	"" []	5183672	\N	\N	EFO	7	EFO	experimental factor	Alpha-1-antichymotrypsin deficiency
Orphanet:93598	\N	\N	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	78597	\N	\N	EFO	0	EFO	Primary hyperoxaluria type 1	Primary hyperoxaluria type 1
Orphanet:309810	Orphanet:93598	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	223474	\N	\N	EFO	1	EFO	Disorder of peroxisomal alpha-, beta- and omega-oxidation	Primary hyperoxaluria type 1
Orphanet:416	Orphanet:93598	\N	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	223475	\N	\N	EFO	1	EFO	Primary hyperoxaluria	Primary hyperoxaluria type 1
Orphanet:68373	Orphanet:309810	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	580060	\N	\N	EFO	2	EFO	Peroxisomal disease	Primary hyperoxaluria type 1
Orphanet:308998	Orphanet:416	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	580061	\N	\N	EFO	2	EFO	Disorder of glyoxylate metabolism	Primary hyperoxaluria type 1
Orphanet:93593	Orphanet:416	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	580062	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Primary hyperoxaluria type 1
Orphanet:98666	Orphanet:416	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	580063	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Primary hyperoxaluria type 1
Orphanet:98713	Orphanet:416	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	580064	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Primary hyperoxaluria type 1
Orphanet:68367	Orphanet:68373	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	1163888	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Primary hyperoxaluria type 1
Orphanet:79161	Orphanet:308998	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	1163889	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Primary hyperoxaluria type 1
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	1163890	\N	\N	EFO	3	EFO	Rare genetic renal disease	Primary hyperoxaluria type 1
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	1163891	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Primary hyperoxaluria type 1
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	1163892	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Primary hyperoxaluria type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	3197732	\N	\N	EFO	5	EFO	genetic disorder	Primary hyperoxaluria type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	3197733	\N	\N	EFO	5	EFO	metabolic disease	Primary hyperoxaluria type 1
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	2047691	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Primary hyperoxaluria type 1
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	2047692	\N	\N	EFO	4	EFO	genetic disorder	Primary hyperoxaluria type 1
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	2047693	\N	\N	EFO	4	EFO	Retinal dystrophy	Primary hyperoxaluria type 1
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	2047694	\N	\N	EFO	4	EFO	Rare genetic eye disease	Primary hyperoxaluria type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	5877873	\N	\N	EFO	8	EFO	disease	Primary hyperoxaluria type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	4134530	\N	\N	EFO	6	EFO	disease	Primary hyperoxaluria type 1
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	3197734	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Primary hyperoxaluria type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	5418937	\N	\N	EFO	7	EFO	genetic disorder	Primary hyperoxaluria type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	5418938	\N	\N	EFO	7	EFO	eye disease	Primary hyperoxaluria type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	6410424	\N	\N	EFO	9	EFO	disposition	Primary hyperoxaluria type 1
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	4403117	\N	\N	EFO	6	EFO	Rare genetic eye disease	Primary hyperoxaluria type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	5877874	\N	\N	EFO	8	EFO	disease	Primary hyperoxaluria type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	6808225	\N	\N	EFO	10	EFO	material property	Primary hyperoxaluria type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93598	"Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." []	7048844	\N	\N	EFO	11	EFO	experimental factor	Primary hyperoxaluria type 1
Orphanet:93599	\N	\N	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	78598	\N	\N	EFO	0	EFO	Primary hyperoxaluria type 2	Primary hyperoxaluria type 2
Orphanet:416	Orphanet:93599	\N	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	223476	\N	\N	EFO	1	EFO	Primary hyperoxaluria	Primary hyperoxaluria type 2
Orphanet:308998	Orphanet:416	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	580065	\N	\N	EFO	2	EFO	Disorder of glyoxylate metabolism	Primary hyperoxaluria type 2
Orphanet:93593	Orphanet:416	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	580066	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Primary hyperoxaluria type 2
Orphanet:98666	Orphanet:416	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	580067	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Primary hyperoxaluria type 2
Orphanet:98713	Orphanet:416	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	580068	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Primary hyperoxaluria type 2
Orphanet:79161	Orphanet:308998	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	1163893	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Primary hyperoxaluria type 2
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	1163894	\N	\N	EFO	3	EFO	Rare genetic renal disease	Primary hyperoxaluria type 2
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	1163895	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Primary hyperoxaluria type 2
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	1163896	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Primary hyperoxaluria type 2
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	2047695	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Primary hyperoxaluria type 2
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	2047696	\N	\N	EFO	4	EFO	genetic disorder	Primary hyperoxaluria type 2
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	2047697	\N	\N	EFO	4	EFO	Retinal dystrophy	Primary hyperoxaluria type 2
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	2047698	\N	\N	EFO	4	EFO	Rare genetic eye disease	Primary hyperoxaluria type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	3197737	\N	\N	EFO	5	EFO	genetic disorder	Primary hyperoxaluria type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	3197738	\N	\N	EFO	5	EFO	metabolic disease	Primary hyperoxaluria type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	5877875	\N	\N	EFO	8	EFO	disease	Primary hyperoxaluria type 2
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	3197740	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Primary hyperoxaluria type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	5418940	\N	\N	EFO	7	EFO	genetic disorder	Primary hyperoxaluria type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	5418941	\N	\N	EFO	7	EFO	eye disease	Primary hyperoxaluria type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	4403120	\N	\N	EFO	6	EFO	disease	Primary hyperoxaluria type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	6410425	\N	\N	EFO	9	EFO	disposition	Primary hyperoxaluria type 2
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	4403122	\N	\N	EFO	6	EFO	Rare genetic eye disease	Primary hyperoxaluria type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	5877876	\N	\N	EFO	8	EFO	disease	Primary hyperoxaluria type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	6808226	\N	\N	EFO	10	EFO	material property	Primary hyperoxaluria type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93599	"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." []	7048845	\N	\N	EFO	11	EFO	experimental factor	Primary hyperoxaluria type 2
Orphanet:93600	\N	\N	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	78599	\N	\N	EFO	0	EFO	Primary hyperoxaluria type 3	Primary hyperoxaluria type 3
Orphanet:416	Orphanet:93600	\N	"Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	223477	\N	\N	EFO	1	EFO	Primary hyperoxaluria	Primary hyperoxaluria type 3
Orphanet:308998	Orphanet:416	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	580069	\N	\N	EFO	2	EFO	Disorder of glyoxylate metabolism	Primary hyperoxaluria type 3
Orphanet:93593	Orphanet:416	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	580070	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Primary hyperoxaluria type 3
Orphanet:98666	Orphanet:416	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	580071	\N	\N	EFO	2	EFO	Unclassified primitive or secondary maculopathy	Primary hyperoxaluria type 3
Orphanet:98713	Orphanet:416	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	580072	\N	\N	EFO	2	EFO	Metabolic disease with pigmentary retinitis	Primary hyperoxaluria type 3
Orphanet:79161	Orphanet:308998	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	1163897	\N	\N	EFO	3	EFO	Disorder of carbohydrate metabolism	Primary hyperoxaluria type 3
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	1163898	\N	\N	EFO	3	EFO	Rare genetic renal disease	Primary hyperoxaluria type 3
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	1163899	\N	\N	EFO	3	EFO	Genetic macular dystrophy	Primary hyperoxaluria type 3
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	1163900	\N	\N	EFO	3	EFO	Metabolic disease associated with ocular features	Primary hyperoxaluria type 3
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	2047699	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Primary hyperoxaluria type 3
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	2047700	\N	\N	EFO	4	EFO	genetic disorder	Primary hyperoxaluria type 3
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	2047701	\N	\N	EFO	4	EFO	Retinal dystrophy	Primary hyperoxaluria type 3
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	2047702	\N	\N	EFO	4	EFO	Rare genetic eye disease	Primary hyperoxaluria type 3
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	3197743	\N	\N	EFO	5	EFO	genetic disorder	Primary hyperoxaluria type 3
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	3197744	\N	\N	EFO	5	EFO	metabolic disease	Primary hyperoxaluria type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	5877877	\N	\N	EFO	8	EFO	disease	Primary hyperoxaluria type 3
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	3197746	\N	\N	EFO	5	EFO	Genetic vitreous-retinal disease	Primary hyperoxaluria type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	5418943	\N	\N	EFO	7	EFO	genetic disorder	Primary hyperoxaluria type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	5418944	\N	\N	EFO	7	EFO	eye disease	Primary hyperoxaluria type 3
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	4403125	\N	\N	EFO	6	EFO	disease	Primary hyperoxaluria type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	6410426	\N	\N	EFO	9	EFO	disposition	Primary hyperoxaluria type 3
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	4403127	\N	\N	EFO	6	EFO	Rare genetic eye disease	Primary hyperoxaluria type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	5877878	\N	\N	EFO	8	EFO	disease	Primary hyperoxaluria type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	6808227	\N	\N	EFO	10	EFO	material property	Primary hyperoxaluria type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93600	"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." []	7048846	\N	\N	EFO	11	EFO	experimental factor	Primary hyperoxaluria type 3
Orphanet:93601	\N	\N	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	78600	\N	\N	EFO	0	EFO	Xanthinuria type I	Xanthinuria type I
Orphanet:3467	Orphanet:93601	\N	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	223478	\N	\N	EFO	1	EFO	Hereditary xanthinuria	Xanthinuria type I
Orphanet:79191	Orphanet:3467	\N	"" []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	580073	\N	\N	EFO	2	EFO	Disorder of purine metabolism	Xanthinuria type I
Orphanet:93593	Orphanet:3467	\N	"" []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	580074	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Xanthinuria type I
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	1163901	\N	\N	EFO	3	EFO	Disorder of purine or pyrimidine metabolism	Xanthinuria type I
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	1163902	\N	\N	EFO	3	EFO	Rare genetic renal disease	Xanthinuria type I
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	2047703	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Xanthinuria type I
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	2047704	\N	\N	EFO	4	EFO	genetic disorder	Xanthinuria type I
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	3197749	\N	\N	EFO	5	EFO	genetic disorder	Xanthinuria type I
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	3197750	\N	\N	EFO	5	EFO	metabolic disease	Xanthinuria type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	4403129	\N	\N	EFO	6	EFO	disease	Xanthinuria type I
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	4403130	\N	\N	EFO	6	EFO	disease	Xanthinuria type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	5183676	\N	\N	EFO	7	EFO	disposition	Xanthinuria type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	5999006	\N	\N	EFO	8	EFO	material property	Xanthinuria type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93601	"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." []	6551982	\N	\N	EFO	9	EFO	experimental factor	Xanthinuria type I
Orphanet:93602	\N	\N	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	78601	\N	\N	EFO	0	EFO	Xanthinuria type II	Xanthinuria type II
Orphanet:3467	Orphanet:93602	\N	"Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	223479	\N	\N	EFO	1	EFO	Hereditary xanthinuria	Xanthinuria type II
Orphanet:79191	Orphanet:3467	\N	"" []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	580075	\N	\N	EFO	2	EFO	Disorder of purine metabolism	Xanthinuria type II
Orphanet:93593	Orphanet:3467	\N	"" []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	580076	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Xanthinuria type II
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	1163903	\N	\N	EFO	3	EFO	Disorder of purine or pyrimidine metabolism	Xanthinuria type II
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	1163904	\N	\N	EFO	3	EFO	Rare genetic renal disease	Xanthinuria type II
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	2047705	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Xanthinuria type II
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	2047706	\N	\N	EFO	4	EFO	genetic disorder	Xanthinuria type II
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	3197752	\N	\N	EFO	5	EFO	genetic disorder	Xanthinuria type II
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	3197753	\N	\N	EFO	5	EFO	metabolic disease	Xanthinuria type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	4403132	\N	\N	EFO	6	EFO	disease	Xanthinuria type II
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	4403133	\N	\N	EFO	6	EFO	disease	Xanthinuria type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	5183677	\N	\N	EFO	7	EFO	disposition	Xanthinuria type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	5999007	\N	\N	EFO	8	EFO	material property	Xanthinuria type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93602	"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." []	6551983	\N	\N	EFO	9	EFO	experimental factor	Xanthinuria type II
Orphanet:93604	\N	\N	"Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome" []	Orphanet:93604	"Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome" []	78602	\N	\N	EFO	0	EFO	Antenatal Bartter syndrome	Antenatal Bartter syndrome
Orphanet:112	Orphanet:93604	\N	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	Orphanet:93604	"Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome" []	223480	\N	\N	EFO	1	EFO	Bartter syndrome	Antenatal Bartter syndrome
Orphanet:183592	Orphanet:112	\N	"" []	Orphanet:93604	"Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome" []	580077	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Antenatal Bartter syndrome
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:93604	"Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome" []	1163905	\N	\N	EFO	3	EFO	Rare genetic renal disease	Antenatal Bartter syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93604	"Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome" []	2047707	\N	\N	EFO	4	EFO	genetic disorder	Antenatal Bartter syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93604	"Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome" []	3197755	\N	\N	EFO	5	EFO	disease	Antenatal Bartter syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93604	"Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome" []	4403135	\N	\N	EFO	6	EFO	disposition	Antenatal Bartter syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93604	"Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome" []	5418947	\N	\N	EFO	7	EFO	material property	Antenatal Bartter syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93604	"Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome" []	6153309	\N	\N	EFO	8	EFO	experimental factor	Antenatal Bartter syndrome
Orphanet:93605	\N	\N	"Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	Orphanet:93605	"Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	78603	\N	\N	EFO	0	EFO	Classic Bartter syndrome	Classic Bartter syndrome
Orphanet:112	Orphanet:93605	\N	"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	Orphanet:93605	"Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	223481	\N	\N	EFO	1	EFO	Bartter syndrome	Classic Bartter syndrome
Orphanet:183592	Orphanet:112	\N	"" []	Orphanet:93605	"Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	580078	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Classic Bartter syndrome
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:93605	"Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	1163906	\N	\N	EFO	3	EFO	Rare genetic renal disease	Classic Bartter syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93605	"Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	2047708	\N	\N	EFO	4	EFO	genetic disorder	Classic Bartter syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93605	"Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	3197756	\N	\N	EFO	5	EFO	disease	Classic Bartter syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93605	"Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	4403136	\N	\N	EFO	6	EFO	disposition	Classic Bartter syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93605	"Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	5418948	\N	\N	EFO	7	EFO	material property	Classic Bartter syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93605	"Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." []	6153310	\N	\N	EFO	8	EFO	experimental factor	Classic Bartter syndrome
Orphanet:93606	\N	\N	"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." []	Orphanet:93606	"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." []	78604	\N	\N	EFO	0	EFO	Nephrogenic syndrome of inappropriate antidiuresis	Nephrogenic syndrome of inappropriate antidiuresis
Orphanet:183592	Orphanet:93606	\N	"" []	Orphanet:93606	"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." []	223482	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Nephrogenic syndrome of inappropriate antidiuresis
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:93606	"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." []	580079	\N	\N	EFO	2	EFO	Rare genetic renal disease	Nephrogenic syndrome of inappropriate antidiuresis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93606	"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." []	1163907	\N	\N	EFO	3	EFO	genetic disorder	Nephrogenic syndrome of inappropriate antidiuresis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93606	"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." []	2047709	\N	\N	EFO	4	EFO	disease	Nephrogenic syndrome of inappropriate antidiuresis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93606	"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." []	3197757	\N	\N	EFO	5	EFO	disposition	Nephrogenic syndrome of inappropriate antidiuresis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93606	"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." []	4403137	\N	\N	EFO	6	EFO	material property	Nephrogenic syndrome of inappropriate antidiuresis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93606	"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." []	5418949	\N	\N	EFO	7	EFO	experimental factor	Nephrogenic syndrome of inappropriate antidiuresis
Orphanet:93607	\N	\N	"Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." []	Orphanet:93607	"Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." []	78605	\N	\N	EFO	0	EFO	Autosomal recessive proximal renal tubular acidosis	Autosomal recessive proximal renal tubular acidosis
Orphanet:47159	Orphanet:93607	\N	"Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." []	Orphanet:93607	"Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." []	223483	\N	\N	EFO	1	EFO	Proximal renal tubular acidosis	Autosomal recessive proximal renal tubular acidosis
Orphanet:314822	Orphanet:47159	\N	"" []	Orphanet:93607	"Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." []	580080	\N	\N	EFO	2	EFO	Primary renal tubular acidosis	Autosomal recessive proximal renal tubular acidosis
Orphanet:183592	Orphanet:314822	\N	"" []	Orphanet:93607	"Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." []	1163908	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Autosomal recessive proximal renal tubular acidosis
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:93607	"Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." []	2047710	\N	\N	EFO	4	EFO	Rare genetic renal disease	Autosomal recessive proximal renal tubular acidosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93607	"Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." []	3197758	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive proximal renal tubular acidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93607	"Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." []	4403138	\N	\N	EFO	6	EFO	disease	Autosomal recessive proximal renal tubular acidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93607	"Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." []	5418950	\N	\N	EFO	7	EFO	disposition	Autosomal recessive proximal renal tubular acidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93607	"Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." []	6153311	\N	\N	EFO	8	EFO	material property	Autosomal recessive proximal renal tubular acidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93607	"Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." []	6634350	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive proximal renal tubular acidosis
Orphanet:93608	\N	\N	"Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." []	Orphanet:93608	"Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." []	78606	\N	\N	EFO	0	EFO	Autosomal dominant distal renal tubular acidosis	Autosomal dominant distal renal tubular acidosis
Orphanet:18	Orphanet:93608	\N	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	Orphanet:93608	"Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." []	223484	\N	\N	EFO	1	EFO	Distal renal tubular acidosis	Autosomal dominant distal renal tubular acidosis
Orphanet:314822	Orphanet:18	\N	"" []	Orphanet:93608	"Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." []	580081	\N	\N	EFO	2	EFO	Primary renal tubular acidosis	Autosomal dominant distal renal tubular acidosis
Orphanet:183592	Orphanet:314822	\N	"" []	Orphanet:93608	"Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." []	1163909	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Autosomal dominant distal renal tubular acidosis
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:93608	"Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." []	2047711	\N	\N	EFO	4	EFO	Rare genetic renal disease	Autosomal dominant distal renal tubular acidosis
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93608	"Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." []	3197759	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant distal renal tubular acidosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93608	"Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." []	4403139	\N	\N	EFO	6	EFO	disease	Autosomal dominant distal renal tubular acidosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93608	"Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." []	5418951	\N	\N	EFO	7	EFO	disposition	Autosomal dominant distal renal tubular acidosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93608	"Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." []	6153312	\N	\N	EFO	8	EFO	material property	Autosomal dominant distal renal tubular acidosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93608	"Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." []	6634351	\N	\N	EFO	9	EFO	experimental factor	Autosomal dominant distal renal tubular acidosis
Orphanet:93610	\N	\N	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	78607	\N	\N	EFO	0	EFO	Distal renal tubular acidosis with anemia	Distal renal tubular acidosis with anemia
Orphanet:18	Orphanet:93610	\N	"Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	223485	\N	\N	EFO	1	EFO	Distal renal tubular acidosis	Distal renal tubular acidosis with anemia
Orphanet:98364	Orphanet:93610	\N	"" []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	223486	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Distal renal tubular acidosis with anemia
Orphanet:314822	Orphanet:18	\N	"" []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	580082	\N	\N	EFO	2	EFO	Primary renal tubular acidosis	Distal renal tubular acidosis with anemia
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	580083	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Distal renal tubular acidosis with anemia
Orphanet:183592	Orphanet:314822	\N	"" []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	1163910	\N	\N	EFO	3	EFO	Genetic renal tubular disease	Distal renal tubular acidosis with anemia
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	1163911	\N	\N	EFO	3	EFO	Rare constitutional anemia	Distal renal tubular acidosis with anemia
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	2047712	\N	\N	EFO	4	EFO	Rare genetic renal disease	Distal renal tubular acidosis with anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	2047713	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Distal renal tubular acidosis with anemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	3197760	\N	\N	EFO	5	EFO	genetic disorder	Distal renal tubular acidosis with anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	3197761	\N	\N	EFO	5	EFO	genetic disorder	Distal renal tubular acidosis with anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	3197762	\N	\N	EFO	5	EFO	hematological system disease	Distal renal tubular acidosis with anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	4403140	\N	\N	EFO	6	EFO	disease	Distal renal tubular acidosis with anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	4403141	\N	\N	EFO	6	EFO	disease	Distal renal tubular acidosis with anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	5418952	\N	\N	EFO	7	EFO	disposition	Distal renal tubular acidosis with anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	6153313	\N	\N	EFO	8	EFO	material property	Distal renal tubular acidosis with anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93610	"Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." []	6634352	\N	\N	EFO	9	EFO	experimental factor	Distal renal tubular acidosis with anemia
Orphanet:93612	\N	\N	"" []	Orphanet:93612	"" []	78608	\N	\N	EFO	0	EFO	Cystinuria type A	Cystinuria type A
Orphanet:214	Orphanet:93612	\N	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	Orphanet:93612	"" []	223487	\N	\N	EFO	1	EFO	Cystinuria	Cystinuria type A
Orphanet:183592	Orphanet:214	\N	"" []	Orphanet:93612	"" []	580084	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Cystinuria type A
Orphanet:79166	Orphanet:214	\N	"" []	Orphanet:93612	"" []	580085	\N	\N	EFO	2	EFO	Disorder of amino acid absorption and transport	Cystinuria type A
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:93612	"" []	1163912	\N	\N	EFO	3	EFO	Rare genetic renal disease	Cystinuria type A
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:93612	"" []	1163913	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Cystinuria type A
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93612	"" []	2047714	\N	\N	EFO	4	EFO	genetic disorder	Cystinuria type A
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:93612	"" []	2047715	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Cystinuria type A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93612	"" []	4403143	\N	\N	EFO	6	EFO	disease	Cystinuria type A
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93612	"" []	3197764	\N	\N	EFO	5	EFO	genetic disorder	Cystinuria type A
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93612	"" []	3197765	\N	\N	EFO	5	EFO	metabolic disease	Cystinuria type A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93612	"" []	5183678	\N	\N	EFO	7	EFO	disposition	Cystinuria type A
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93612	"" []	4403144	\N	\N	EFO	6	EFO	disease	Cystinuria type A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93612	"" []	5999008	\N	\N	EFO	8	EFO	material property	Cystinuria type A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93612	"" []	6551984	\N	\N	EFO	9	EFO	experimental factor	Cystinuria type A
Orphanet:93613	\N	\N	"" []	Orphanet:93613	"" []	78609	\N	\N	EFO	0	EFO	Cystinuria type B	Cystinuria type B
Orphanet:214	Orphanet:93613	\N	"Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." []	Orphanet:93613	"" []	223488	\N	\N	EFO	1	EFO	Cystinuria	Cystinuria type B
Orphanet:183592	Orphanet:214	\N	"" []	Orphanet:93613	"" []	580086	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Cystinuria type B
Orphanet:79166	Orphanet:214	\N	"" []	Orphanet:93613	"" []	580087	\N	\N	EFO	2	EFO	Disorder of amino acid absorption and transport	Cystinuria type B
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:93613	"" []	1163914	\N	\N	EFO	3	EFO	Rare genetic renal disease	Cystinuria type B
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:93613	"" []	1163915	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Cystinuria type B
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93613	"" []	2047716	\N	\N	EFO	4	EFO	genetic disorder	Cystinuria type B
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:93613	"" []	2047717	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Cystinuria type B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93613	"" []	4403146	\N	\N	EFO	6	EFO	disease	Cystinuria type B
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93613	"" []	3197767	\N	\N	EFO	5	EFO	genetic disorder	Cystinuria type B
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:93613	"" []	3197768	\N	\N	EFO	5	EFO	metabolic disease	Cystinuria type B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93613	"" []	5183679	\N	\N	EFO	7	EFO	disposition	Cystinuria type B
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93613	"" []	4403147	\N	\N	EFO	6	EFO	disease	Cystinuria type B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93613	"" []	5999009	\N	\N	EFO	8	EFO	material property	Cystinuria type B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93613	"" []	6551985	\N	\N	EFO	9	EFO	experimental factor	Cystinuria type B
Orphanet:93614	\N	\N	"" []	Orphanet:93614	"" []	78610	\N	\N	EFO	0	EFO	Hematological disorder with renal involvement	Hematological disorder with renal involvement
EFO:0005803	Orphanet:93614	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:93614	"" []	223489	\N	\N	EFO	1	EFO	hematological system disease	Hematological disorder with renal involvement
Orphanet:98056	Orphanet:93614	\N	"" []	Orphanet:93614	"" []	223490	\N	\N	EFO	1	EFO	Rare genetic renal disease	Hematological disorder with renal involvement
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93614	"" []	580088	\N	\N	EFO	2	EFO	disease	Hematological disorder with renal involvement
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93614	"" []	580089	\N	\N	EFO	2	EFO	genetic disorder	Hematological disorder with renal involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93614	"" []	2047719	\N	\N	EFO	4	EFO	disposition	Hematological disorder with renal involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93614	"" []	1163917	\N	\N	EFO	3	EFO	disease	Hematological disorder with renal involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93614	"" []	3000488	\N	\N	EFO	5	EFO	material property	Hematological disorder with renal involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93614	"" []	4134531	\N	\N	EFO	6	EFO	experimental factor	Hematological disorder with renal involvement
Orphanet:93616	\N	\N	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	78611	\N	\N	EFO	0	EFO	Hemoglobin H disease	Hemoglobin H disease
Orphanet:846	Orphanet:93616	\N	"Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	223491	\N	\N	EFO	1	EFO	Alpha-thalassemia	Hemoglobin H disease
Orphanet:275745	Orphanet:846	\N	"" []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	580090	\N	\N	EFO	2	EFO	Alpha-thalassemia and related diseases	Hemoglobin H disease
Orphanet:93614	Orphanet:846	\N	"" []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	580091	\N	\N	EFO	2	EFO	Hematological disorder with renal involvement	Hemoglobin H disease
EFO:1001996	Orphanet:275745	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	1163918	\N	\N	EFO	3	EFO	Thalassemia	Hemoglobin H disease
EFO:0005803	Orphanet:93614	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	1163919	\N	\N	EFO	3	EFO	hematological system disease	Hemoglobin H disease
Orphanet:98056	Orphanet:93614	\N	"" []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	1163920	\N	\N	EFO	3	EFO	Rare genetic renal disease	Hemoglobin H disease
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	2047720	\N	\N	EFO	4	EFO	Hemoglobinopathy	Hemoglobin H disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	6153317	\N	\N	EFO	8	EFO	disease	Hemoglobin H disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	2047722	\N	\N	EFO	4	EFO	genetic disorder	Hemoglobin H disease
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	3197770	\N	\N	EFO	5	EFO	Rare constitutional anemia	Hemoglobin H disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	6379017	\N	\N	EFO	9	EFO	disposition	Hemoglobin H disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	6153316	\N	\N	EFO	8	EFO	disease	Hemoglobin H disease
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	4403148	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Hemoglobin H disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	6778857	\N	\N	EFO	10	EFO	material property	Hemoglobin H disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	5418955	\N	\N	EFO	7	EFO	genetic disorder	Hemoglobin H disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	5418956	\N	\N	EFO	7	EFO	hematological system disease	Hemoglobin H disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93616	"Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." []	7030043	\N	\N	EFO	11	EFO	experimental factor	Hemoglobin H disease
Orphanet:93622	\N	\N	"Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." []	Orphanet:93622	"Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." []	78612	\N	\N	EFO	0	EFO	Dent disease type 1	Dent disease type 1
Orphanet:1652	Orphanet:93622	\N	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	Orphanet:93622	"Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." []	223492	\N	\N	EFO	1	EFO	Dent disease	Dent disease type 1
EFO:0003086	Orphanet:1652	\N	"A disease affecting the kidneys" []	Orphanet:93622	"Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." []	580092	\N	\N	EFO	2	EFO	kidney disease	Dent disease type 1
Orphanet:183592	Orphanet:1652	\N	"" []	Orphanet:93622	"Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." []	580093	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Dent disease type 1
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93622	"Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." []	1163921	\N	\N	EFO	3	EFO	disease	Dent disease type 1
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:93622	"Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." []	1163922	\N	\N	EFO	3	EFO	Rare genetic renal disease	Dent disease type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93622	"Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." []	4403152	\N	\N	EFO	6	EFO	disposition	Dent disease type 1
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93622	"Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." []	2047724	\N	\N	EFO	4	EFO	genetic disorder	Dent disease type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93622	"Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." []	5060342	\N	\N	EFO	7	EFO	material property	Dent disease type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93622	"Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." []	3197774	\N	\N	EFO	5	EFO	disease	Dent disease type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93622	"Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." []	5877879	\N	\N	EFO	8	EFO	experimental factor	Dent disease type 1
Orphanet:93623	\N	\N	"Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." []	Orphanet:93623	"Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." []	78613	\N	\N	EFO	0	EFO	Dent disease type 2	Dent disease type 2
Orphanet:1652	Orphanet:93623	\N	"Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." []	Orphanet:93623	"Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." []	223493	\N	\N	EFO	1	EFO	Dent disease	Dent disease type 2
EFO:0003086	Orphanet:1652	\N	"A disease affecting the kidneys" []	Orphanet:93623	"Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." []	580094	\N	\N	EFO	2	EFO	kidney disease	Dent disease type 2
Orphanet:183592	Orphanet:1652	\N	"" []	Orphanet:93623	"Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." []	580095	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Dent disease type 2
EFO:0000408	EFO:0003086	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93623	"Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." []	1163923	\N	\N	EFO	3	EFO	disease	Dent disease type 2
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:93623	"Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." []	1163924	\N	\N	EFO	3	EFO	Rare genetic renal disease	Dent disease type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93623	"Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." []	4403154	\N	\N	EFO	6	EFO	disposition	Dent disease type 2
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93623	"Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." []	2047726	\N	\N	EFO	4	EFO	genetic disorder	Dent disease type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93623	"Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." []	5060343	\N	\N	EFO	7	EFO	material property	Dent disease type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93623	"Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." []	3197776	\N	\N	EFO	5	EFO	disease	Dent disease type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93623	"Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." []	5877880	\N	\N	EFO	8	EFO	experimental factor	Dent disease type 2
Orphanet:939	\N	\N	"" []	Orphanet:939	"" []	78614	\N	\N	EFO	0	EFO	3-hydroxyisobutyric aciduria	3-hydroxyisobutyric aciduria
Orphanet:79163	Orphanet:939	\N	"" []	Orphanet:939	"" []	223494	\N	\N	EFO	1	EFO	Classic organic aciduria	3-hydroxyisobutyric aciduria
Orphanet:289899	Orphanet:79163	\N	"" []	Orphanet:939	"" []	580096	\N	\N	EFO	2	EFO	Organic aciduria	3-hydroxyisobutyric aciduria
Orphanet:79062	Orphanet:289899	\N	"" []	Orphanet:939	"" []	1163925	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	3-hydroxyisobutyric aciduria
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:939	"" []	2047727	\N	\N	EFO	4	EFO	Inborn errors of metabolism	3-hydroxyisobutyric aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:939	"" []	3197777	\N	\N	EFO	5	EFO	genetic disorder	3-hydroxyisobutyric aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:939	"" []	3197778	\N	\N	EFO	5	EFO	metabolic disease	3-hydroxyisobutyric aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:939	"" []	4403155	\N	\N	EFO	6	EFO	disease	3-hydroxyisobutyric aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:939	"" []	4403156	\N	\N	EFO	6	EFO	disease	3-hydroxyisobutyric aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:939	"" []	5418958	\N	\N	EFO	7	EFO	disposition	3-hydroxyisobutyric aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:939	"" []	6153318	\N	\N	EFO	8	EFO	material property	3-hydroxyisobutyric aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:939	"" []	6634353	\N	\N	EFO	9	EFO	experimental factor	3-hydroxyisobutyric aciduria
Orphanet:93921	\N	\N	"" []	Orphanet:93921	"" []	78615	\N	\N	EFO	0	EFO	Neurofibromatosis type 3	Neurofibromatosis type 3
Orphanet:140162	Orphanet:93921	\N	"" []	Orphanet:93921	"" []	223495	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Neurofibromatosis type 3
Orphanet:183466	Orphanet:93921	\N	"" []	Orphanet:93921	"" []	223496	\N	\N	EFO	1	EFO	Genetic hyperpigmentation of the skin	Neurofibromatosis type 3
Orphanet:98196	Orphanet:93921	\N	"" []	Orphanet:93921	"" []	223497	\N	\N	EFO	1	EFO	Malformation syndrome with hamartosis	Neurofibromatosis type 3
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93921	"" []	580097	\N	\N	EFO	2	EFO	genetic disorder	Neurofibromatosis type 3
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:93921	"" []	580098	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Neurofibromatosis type 3
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:93921	"" []	580099	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Neurofibromatosis type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93921	"" []	3197780	\N	\N	EFO	5	EFO	disease	Neurofibromatosis type 3
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:93921	"" []	1163927	\N	\N	EFO	3	EFO	Rare genetic skin disease	Neurofibromatosis type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93921	"" []	1163928	\N	\N	EFO	3	EFO	genetic disorder	Neurofibromatosis type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93921	"" []	4067017	\N	\N	EFO	6	EFO	disposition	Neurofibromatosis type 3
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93921	"" []	2047729	\N	\N	EFO	4	EFO	genetic disorder	Neurofibromatosis type 3
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:93921	"" []	2047730	\N	\N	EFO	4	EFO	skin disease	Neurofibromatosis type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93921	"" []	5060344	\N	\N	EFO	7	EFO	material property	Neurofibromatosis type 3
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93921	"" []	3197781	\N	\N	EFO	5	EFO	disease	Neurofibromatosis type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93921	"" []	5877881	\N	\N	EFO	8	EFO	experimental factor	Neurofibromatosis type 3
Orphanet:93924	\N	\N	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	78616	\N	\N	EFO	0	EFO	Lobar holoprosencephaly	Lobar holoprosencephaly
Orphanet:2162	Orphanet:93924	\N	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	223498	\N	\N	EFO	1	EFO	Holoprosencephaly	Lobar holoprosencephaly
Orphanet:102283	Orphanet:2162	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	580100	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Lobar holoprosencephaly
Orphanet:166478	Orphanet:2162	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	580101	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Lobar holoprosencephaly
Orphanet:183763	Orphanet:2162	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	580102	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Lobar holoprosencephaly
Orphanet:268926	Orphanet:2162	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	580103	\N	\N	EFO	2	EFO	Midline cerebral malformation	Lobar holoprosencephaly
Orphanet:95495	Orphanet:2162	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	580104	\N	\N	EFO	2	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Lobar holoprosencephaly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	1163929	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Lobar holoprosencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	1163930	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Lobar holoprosencephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	1163931	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Lobar holoprosencephaly
Orphanet:269553	Orphanet:268926	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	1163932	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Lobar holoprosencephaly
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	1163933	\N	\N	EFO	3	EFO	Non-acquired combined pituitary hormone deficiency	Lobar holoprosencephaly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	2047732	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Lobar holoprosencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	2047733	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lobar holoprosencephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	2047734	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Lobar holoprosencephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	2047735	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Lobar holoprosencephaly
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	2047736	\N	\N	EFO	4	EFO	Non-acquired pituitary hormone deficiency	Lobar holoprosencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	5418960	\N	\N	EFO	7	EFO	genetic disorder	Lobar holoprosencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	5418961	\N	\N	EFO	7	EFO	genetic disorder	Lobar holoprosencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	3197784	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Lobar holoprosencephaly
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	3197785	\N	\N	EFO	5	EFO	Pituitary deficiency	Lobar holoprosencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	6634355	\N	\N	EFO	9	EFO	disease	Lobar holoprosencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	4403159	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Lobar holoprosencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	4403160	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Lobar holoprosencephaly
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	4403161	\N	\N	EFO	6	EFO	Rare genetic hypothalamic or pituitary disease	Lobar holoprosencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	6808228	\N	\N	EFO	10	EFO	disposition	Lobar holoprosencephaly
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	5418962	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Lobar holoprosencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	7048847	\N	\N	EFO	11	EFO	material property	Lobar holoprosencephaly
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	6153320	\N	\N	EFO	8	EFO	genetic disorder	Lobar holoprosencephaly
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	6153321	\N	\N	EFO	8	EFO	endocrine system disease	Lobar holoprosencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	7190260	\N	\N	EFO	12	EFO	experimental factor	Lobar holoprosencephaly
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93924	"Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." []	6634356	\N	\N	EFO	9	EFO	disease	Lobar holoprosencephaly
Orphanet:93925	\N	\N	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	78617	\N	\N	EFO	0	EFO	Alobar holoprosencephaly	Alobar holoprosencephaly
Orphanet:2162	Orphanet:93925	\N	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	223499	\N	\N	EFO	1	EFO	Holoprosencephaly	Alobar holoprosencephaly
Orphanet:102283	Orphanet:2162	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	580105	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Alobar holoprosencephaly
Orphanet:166478	Orphanet:2162	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	580106	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Alobar holoprosencephaly
Orphanet:183763	Orphanet:2162	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	580107	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Alobar holoprosencephaly
Orphanet:268926	Orphanet:2162	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	580108	\N	\N	EFO	2	EFO	Midline cerebral malformation	Alobar holoprosencephaly
Orphanet:95495	Orphanet:2162	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	580109	\N	\N	EFO	2	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Alobar holoprosencephaly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	1163934	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Alobar holoprosencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	1163935	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Alobar holoprosencephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	1163936	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Alobar holoprosencephaly
Orphanet:269553	Orphanet:268926	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	1163937	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Alobar holoprosencephaly
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	1163938	\N	\N	EFO	3	EFO	Non-acquired combined pituitary hormone deficiency	Alobar holoprosencephaly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	2047737	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Alobar holoprosencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	2047738	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Alobar holoprosencephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	2047739	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Alobar holoprosencephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	2047740	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Alobar holoprosencephaly
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	2047741	\N	\N	EFO	4	EFO	Non-acquired pituitary hormone deficiency	Alobar holoprosencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	5418964	\N	\N	EFO	7	EFO	genetic disorder	Alobar holoprosencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	5418965	\N	\N	EFO	7	EFO	genetic disorder	Alobar holoprosencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	3197788	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Alobar holoprosencephaly
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	3197789	\N	\N	EFO	5	EFO	Pituitary deficiency	Alobar holoprosencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	6634358	\N	\N	EFO	9	EFO	disease	Alobar holoprosencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	4403163	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Alobar holoprosencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	4403164	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Alobar holoprosencephaly
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	4403165	\N	\N	EFO	6	EFO	Rare genetic hypothalamic or pituitary disease	Alobar holoprosencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	6808229	\N	\N	EFO	10	EFO	disposition	Alobar holoprosencephaly
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	5418966	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Alobar holoprosencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	7048848	\N	\N	EFO	11	EFO	material property	Alobar holoprosencephaly
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	6153323	\N	\N	EFO	8	EFO	genetic disorder	Alobar holoprosencephaly
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	6153324	\N	\N	EFO	8	EFO	endocrine system disease	Alobar holoprosencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	7190261	\N	\N	EFO	12	EFO	experimental factor	Alobar holoprosencephaly
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93925	"Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." []	6634359	\N	\N	EFO	9	EFO	disease	Alobar holoprosencephaly
Orphanet:93926	\N	\N	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	78618	\N	\N	EFO	0	EFO	Midline interhemispheric variant of holoprosencephaly	Midline interhemispheric variant of holoprosencephaly
Orphanet:2162	Orphanet:93926	\N	"Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	223500	\N	\N	EFO	1	EFO	Holoprosencephaly	Midline interhemispheric variant of holoprosencephaly
Orphanet:102283	Orphanet:2162	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	580110	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Midline interhemispheric variant of holoprosencephaly
Orphanet:166478	Orphanet:2162	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	580111	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Midline interhemispheric variant of holoprosencephaly
Orphanet:183763	Orphanet:2162	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	580112	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Midline interhemispheric variant of holoprosencephaly
Orphanet:268926	Orphanet:2162	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	580113	\N	\N	EFO	2	EFO	Midline cerebral malformation	Midline interhemispheric variant of holoprosencephaly
Orphanet:95495	Orphanet:2162	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	580114	\N	\N	EFO	2	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Midline interhemispheric variant of holoprosencephaly
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	1163939	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Midline interhemispheric variant of holoprosencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	1163940	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Midline interhemispheric variant of holoprosencephaly
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	1163941	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Midline interhemispheric variant of holoprosencephaly
Orphanet:269553	Orphanet:268926	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	1163942	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Midline interhemispheric variant of holoprosencephaly
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	1163943	\N	\N	EFO	3	EFO	Non-acquired combined pituitary hormone deficiency	Midline interhemispheric variant of holoprosencephaly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	2047742	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Midline interhemispheric variant of holoprosencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	2047743	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Midline interhemispheric variant of holoprosencephaly
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	2047744	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Midline interhemispheric variant of holoprosencephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	2047745	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Midline interhemispheric variant of holoprosencephaly
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	2047746	\N	\N	EFO	4	EFO	Non-acquired pituitary hormone deficiency	Midline interhemispheric variant of holoprosencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	5418968	\N	\N	EFO	7	EFO	genetic disorder	Midline interhemispheric variant of holoprosencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	5418969	\N	\N	EFO	7	EFO	genetic disorder	Midline interhemispheric variant of holoprosencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	3197792	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Midline interhemispheric variant of holoprosencephaly
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	3197793	\N	\N	EFO	5	EFO	Pituitary deficiency	Midline interhemispheric variant of holoprosencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	6634361	\N	\N	EFO	9	EFO	disease	Midline interhemispheric variant of holoprosencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	4403167	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Midline interhemispheric variant of holoprosencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	4403168	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Midline interhemispheric variant of holoprosencephaly
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	4403169	\N	\N	EFO	6	EFO	Rare genetic hypothalamic or pituitary disease	Midline interhemispheric variant of holoprosencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	6808230	\N	\N	EFO	10	EFO	disposition	Midline interhemispheric variant of holoprosencephaly
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	5418970	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Midline interhemispheric variant of holoprosencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	7048849	\N	\N	EFO	11	EFO	material property	Midline interhemispheric variant of holoprosencephaly
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	6153326	\N	\N	EFO	8	EFO	genetic disorder	Midline interhemispheric variant of holoprosencephaly
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	6153327	\N	\N	EFO	8	EFO	endocrine system disease	Midline interhemispheric variant of holoprosencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	7190262	\N	\N	EFO	12	EFO	experimental factor	Midline interhemispheric variant of holoprosencephaly
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93926	"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." []	6634362	\N	\N	EFO	9	EFO	disease	Midline interhemispheric variant of holoprosencephaly
Orphanet:93928	\N	\N	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	Orphanet:93928	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	78619	\N	\N	EFO	0	EFO	Epispadias	Epispadias
Orphanet:322	Orphanet:93928	\N	"" []	Orphanet:93928	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	223501	\N	\N	EFO	1	EFO	Exstrophy-epispadias complex	Epispadias
Orphanet:357506	Orphanet:322	\N	"" []	Orphanet:93928	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	580115	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Epispadias
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:93928	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	1163944	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Epispadias
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:93928	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	2047747	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Epispadias
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:93928	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	2047748	\N	\N	EFO	4	EFO	Rare genetic renal disease	Epispadias
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93928	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	3197794	\N	\N	EFO	5	EFO	genetic disorder	Epispadias
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93928	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	3197795	\N	\N	EFO	5	EFO	genetic disorder	Epispadias
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93928	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	4403170	\N	\N	EFO	6	EFO	disease	Epispadias
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93928	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	5418971	\N	\N	EFO	7	EFO	disposition	Epispadias
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93928	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	6153328	\N	\N	EFO	8	EFO	material property	Epispadias
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93928	"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." []	6634363	\N	\N	EFO	9	EFO	experimental factor	Epispadias
Orphanet:93929	\N	\N	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	78620	\N	\N	EFO	0	EFO	Cloacal exstrophy	Cloacal exstrophy
Orphanet:117573	Orphanet:93929	\N	"" []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	223502	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Cloacal exstrophy
Orphanet:322	Orphanet:93929	\N	"" []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	223503	\N	\N	EFO	1	EFO	Exstrophy-epispadias complex	Cloacal exstrophy
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	580116	\N	\N	EFO	2	EFO	Anorectal malformation	Cloacal exstrophy
Orphanet:357506	Orphanet:322	\N	"" []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	580117	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Cloacal exstrophy
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	1163945	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Cloacal exstrophy
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	1163946	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Cloacal exstrophy
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	2047749	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cloacal exstrophy
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	2047750	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cloacal exstrophy
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	2047751	\N	\N	EFO	4	EFO	Rare genetic renal disease	Cloacal exstrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	3197796	\N	\N	EFO	5	EFO	genetic disorder	Cloacal exstrophy
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	3197797	\N	\N	EFO	5	EFO	genetic disorder	Cloacal exstrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	4403171	\N	\N	EFO	6	EFO	disease	Cloacal exstrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	5418972	\N	\N	EFO	7	EFO	disposition	Cloacal exstrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	6153329	\N	\N	EFO	8	EFO	material property	Cloacal exstrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93929	"Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." []	6634364	\N	\N	EFO	9	EFO	experimental factor	Cloacal exstrophy
Orphanet:93930	\N	\N	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	Orphanet:93930	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	78621	\N	\N	EFO	0	EFO	Bladder exstrophy	Bladder exstrophy
Orphanet:322	Orphanet:93930	\N	"" []	Orphanet:93930	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	223504	\N	\N	EFO	1	EFO	Exstrophy-epispadias complex	Bladder exstrophy
Orphanet:357506	Orphanet:322	\N	"" []	Orphanet:93930	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	580118	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Bladder exstrophy
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:93930	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	1163947	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Bladder exstrophy
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:93930	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	2047752	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Bladder exstrophy
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:93930	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	2047753	\N	\N	EFO	4	EFO	Rare genetic renal disease	Bladder exstrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93930	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	3197798	\N	\N	EFO	5	EFO	genetic disorder	Bladder exstrophy
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93930	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	3197799	\N	\N	EFO	5	EFO	genetic disorder	Bladder exstrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93930	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	4403172	\N	\N	EFO	6	EFO	disease	Bladder exstrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93930	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	5418973	\N	\N	EFO	7	EFO	disposition	Bladder exstrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93930	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	6153330	\N	\N	EFO	8	EFO	material property	Bladder exstrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93930	"Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." []	6634365	\N	\N	EFO	9	EFO	experimental factor	Bladder exstrophy
Orphanet:93937	\N	\N	"" []	Orphanet:93937	"" []	78622	\N	\N	EFO	0	EFO	Terminal transverse defects of arm	Terminal transverse defects of arm
Orphanet:1034	Orphanet:93937	\N	"" []	Orphanet:93937	"" []	223505	\N	\N	EFO	1	EFO	Amniotic bands	Terminal transverse defects of arm
Orphanet:294929	Orphanet:1034	\N	"" []	Orphanet:93937	"" []	580119	\N	\N	EFO	2	EFO	Terminal limb defects	Terminal transverse defects of arm
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:93937	"" []	1163948	\N	\N	EFO	3	EFO	Non-syndromic limb reduction defect	Terminal transverse defects of arm
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:93937	"" []	2047754	\N	\N	EFO	4	EFO	Non-syndromic limb malformation	Terminal transverse defects of arm
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:93937	"" []	2047755	\N	\N	EFO	4	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Terminal transverse defects of arm
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:93937	"" []	3197800	\N	\N	EFO	5	EFO	Genetic congenital limb malformation	Terminal transverse defects of arm
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:93937	"" []	3197801	\N	\N	EFO	5	EFO	Dysostosis of genetic origin	Terminal transverse defects of arm
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:93937	"" []	4403173	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Terminal transverse defects of arm
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:93937	"" []	4403174	\N	\N	EFO	6	EFO	Rare genetic bone disease	Terminal transverse defects of arm
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:93937	"" []	4403175	\N	\N	EFO	6	EFO	Rare genetic bone development disorder	Terminal transverse defects of arm
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93937	"" []	6153333	\N	\N	EFO	8	EFO	genetic disorder	Terminal transverse defects of arm
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93937	"" []	5418975	\N	\N	EFO	7	EFO	genetic disorder	Terminal transverse defects of arm
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:93937	"" []	5418976	\N	\N	EFO	7	EFO	bone disease	Terminal transverse defects of arm
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:93937	"" []	5418977	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Terminal transverse defects of arm
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93937	"" []	6551986	\N	\N	EFO	9	EFO	disease	Terminal transverse defects of arm
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:93937	"" []	6153332	\N	\N	EFO	8	EFO	skeletal system disease	Terminal transverse defects of arm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93937	"" []	6889606	\N	\N	EFO	10	EFO	disposition	Terminal transverse defects of arm
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93937	"" []	6634367	\N	\N	EFO	9	EFO	disease	Terminal transverse defects of arm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93937	"" []	7086082	\N	\N	EFO	11	EFO	material property	Terminal transverse defects of arm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93937	"" []	7204428	\N	\N	EFO	12	EFO	experimental factor	Terminal transverse defects of arm
Orphanet:93945	\N	\N	"" []	Orphanet:93945	"" []	78623	\N	\N	EFO	0	EFO	X-linked intellectual disability, Porteous type	X-linked intellectual disability, Porteous type
Orphanet:3242	Orphanet:93945	\N	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	Orphanet:93945	"" []	223506	\N	\N	EFO	1	EFO	Renpenning syndrome	X-linked intellectual disability, Porteous type
Orphanet:102283	Orphanet:3242	\N	"" []	Orphanet:93945	"" []	580120	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Porteous type
Orphanet:117573	Orphanet:3242	\N	"" []	Orphanet:93945	"" []	580121	\N	\N	EFO	2	EFO	Syndromic anorectal malformation	X-linked intellectual disability, Porteous type
Orphanet:98464	Orphanet:3242	\N	"" []	Orphanet:93945	"" []	580122	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Porteous type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93945	"" []	1163949	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Porteous type
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:93945	"" []	1163950	\N	\N	EFO	3	EFO	Anorectal malformation	X-linked intellectual disability, Porteous type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:93945	"" []	1163951	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Porteous type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93945	"" []	2047756	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Porteous type
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:93945	"" []	2047757	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	X-linked intellectual disability, Porteous type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93945	"" []	2047758	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Porteous type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93945	"" []	4403177	\N	\N	EFO	6	EFO	genetic disorder	X-linked intellectual disability, Porteous type
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:93945	"" []	3197803	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Porteous type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93945	"" []	3197804	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Porteous type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93945	"" []	5183682	\N	\N	EFO	7	EFO	disease	X-linked intellectual disability, Porteous type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93945	"" []	4403178	\N	\N	EFO	6	EFO	genetic disorder	X-linked intellectual disability, Porteous type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93945	"" []	5999011	\N	\N	EFO	8	EFO	disposition	X-linked intellectual disability, Porteous type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93945	"" []	6551987	\N	\N	EFO	9	EFO	material property	X-linked intellectual disability, Porteous type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93945	"" []	6889607	\N	\N	EFO	10	EFO	experimental factor	X-linked intellectual disability, Porteous type
Orphanet:93946	\N	\N	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	78624	\N	\N	EFO	0	EFO	Hamel cerebro-palato-cardiac syndrome	Hamel cerebro-palato-cardiac syndrome
Orphanet:3242	Orphanet:93946	\N	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	223507	\N	\N	EFO	1	EFO	Renpenning syndrome	Hamel cerebro-palato-cardiac syndrome
Orphanet:102283	Orphanet:3242	\N	"" []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	580123	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Hamel cerebro-palato-cardiac syndrome
Orphanet:117573	Orphanet:3242	\N	"" []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	580124	\N	\N	EFO	2	EFO	Syndromic anorectal malformation	Hamel cerebro-palato-cardiac syndrome
Orphanet:98464	Orphanet:3242	\N	"" []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	580125	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Hamel cerebro-palato-cardiac syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	1163952	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hamel cerebro-palato-cardiac syndrome
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	1163953	\N	\N	EFO	3	EFO	Anorectal malformation	Hamel cerebro-palato-cardiac syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	1163954	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Hamel cerebro-palato-cardiac syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	2047759	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hamel cerebro-palato-cardiac syndrome
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	2047760	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	Hamel cerebro-palato-cardiac syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	2047761	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Hamel cerebro-palato-cardiac syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	4403180	\N	\N	EFO	6	EFO	genetic disorder	Hamel cerebro-palato-cardiac syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	3197806	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hamel cerebro-palato-cardiac syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	3197807	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Hamel cerebro-palato-cardiac syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	5183683	\N	\N	EFO	7	EFO	disease	Hamel cerebro-palato-cardiac syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	4403181	\N	\N	EFO	6	EFO	genetic disorder	Hamel cerebro-palato-cardiac syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	5999012	\N	\N	EFO	8	EFO	disposition	Hamel cerebro-palato-cardiac syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	6551988	\N	\N	EFO	9	EFO	material property	Hamel cerebro-palato-cardiac syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93946	"Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	6889608	\N	\N	EFO	10	EFO	experimental factor	Hamel cerebro-palato-cardiac syndrome
Orphanet:93947	\N	\N	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	78625	\N	\N	EFO	0	EFO	X-linked intellectual disability, Golabi-Ito-Hall type	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:3242	Orphanet:93947	\N	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	223508	\N	\N	EFO	1	EFO	Renpenning syndrome	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:102283	Orphanet:3242	\N	"" []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	580126	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:117573	Orphanet:3242	\N	"" []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	580127	\N	\N	EFO	2	EFO	Syndromic anorectal malformation	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:98464	Orphanet:3242	\N	"" []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	580128	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	1163955	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	1163956	\N	\N	EFO	3	EFO	Anorectal malformation	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	1163957	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	2047762	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	2047763	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	2047764	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Golabi-Ito-Hall type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	4403183	\N	\N	EFO	6	EFO	genetic disorder	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	3197809	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	3197810	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Golabi-Ito-Hall type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	5183684	\N	\N	EFO	7	EFO	disease	X-linked intellectual disability, Golabi-Ito-Hall type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	4403184	\N	\N	EFO	6	EFO	genetic disorder	X-linked intellectual disability, Golabi-Ito-Hall type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	5999013	\N	\N	EFO	8	EFO	disposition	X-linked intellectual disability, Golabi-Ito-Hall type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	6551989	\N	\N	EFO	9	EFO	material property	X-linked intellectual disability, Golabi-Ito-Hall type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93947	"Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." []	6889609	\N	\N	EFO	10	EFO	experimental factor	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:93950	\N	\N	"" []	Orphanet:93950	"" []	78626	\N	\N	EFO	0	EFO	X-linked intellectual disability, Sutherland-Haan type	X-linked intellectual disability, Sutherland-Haan type
Orphanet:3242	Orphanet:93950	\N	"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." []	Orphanet:93950	"" []	223509	\N	\N	EFO	1	EFO	Renpenning syndrome	X-linked intellectual disability, Sutherland-Haan type
Orphanet:102283	Orphanet:3242	\N	"" []	Orphanet:93950	"" []	580129	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	X-linked intellectual disability, Sutherland-Haan type
Orphanet:117573	Orphanet:3242	\N	"" []	Orphanet:93950	"" []	580130	\N	\N	EFO	2	EFO	Syndromic anorectal malformation	X-linked intellectual disability, Sutherland-Haan type
Orphanet:98464	Orphanet:3242	\N	"" []	Orphanet:93950	"" []	580131	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Sutherland-Haan type
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93950	"" []	1163958	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	X-linked intellectual disability, Sutherland-Haan type
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:93950	"" []	1163959	\N	\N	EFO	3	EFO	Anorectal malformation	X-linked intellectual disability, Sutherland-Haan type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:93950	"" []	1163960	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Sutherland-Haan type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93950	"" []	2047765	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Sutherland-Haan type
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:93950	"" []	2047766	\N	\N	EFO	4	EFO	Genetic digestive tract malformation	X-linked intellectual disability, Sutherland-Haan type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93950	"" []	2047767	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Sutherland-Haan type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93950	"" []	4403186	\N	\N	EFO	6	EFO	genetic disorder	X-linked intellectual disability, Sutherland-Haan type
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:93950	"" []	3197812	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	X-linked intellectual disability, Sutherland-Haan type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93950	"" []	3197813	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Sutherland-Haan type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93950	"" []	5183685	\N	\N	EFO	7	EFO	disease	X-linked intellectual disability, Sutherland-Haan type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93950	"" []	4403187	\N	\N	EFO	6	EFO	genetic disorder	X-linked intellectual disability, Sutherland-Haan type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93950	"" []	5999014	\N	\N	EFO	8	EFO	disposition	X-linked intellectual disability, Sutherland-Haan type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93950	"" []	6551990	\N	\N	EFO	9	EFO	material property	X-linked intellectual disability, Sutherland-Haan type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93950	"" []	6889610	\N	\N	EFO	10	EFO	experimental factor	X-linked intellectual disability, Sutherland-Haan type
Orphanet:93951	\N	\N	"" []	Orphanet:93951	"" []	78627	\N	\N	EFO	0	EFO	X-linked dominant intellectual disability - epilepsy	X-linked dominant intellectual disability - epilepsy
Orphanet:2076	Orphanet:93951	\N	"" []	Orphanet:93951	"" []	223510	\N	\N	EFO	1	EFO	X-linked intellectual disability - epilepsy	X-linked dominant intellectual disability - epilepsy
Orphanet:166472	Orphanet:2076	\N	"" []	Orphanet:93951	"" []	580132	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	X-linked dominant intellectual disability - epilepsy
Orphanet:98464	Orphanet:2076	\N	"" []	Orphanet:93951	"" []	580133	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked dominant intellectual disability - epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:93951	"" []	1163961	\N	\N	EFO	3	EFO	Rare genetic epilepsy	X-linked dominant intellectual disability - epilepsy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:93951	"" []	1163962	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked dominant intellectual disability - epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:93951	"" []	2047768	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked dominant intellectual disability - epilepsy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93951	"" []	2047769	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked dominant intellectual disability - epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93951	"" []	4403189	\N	\N	EFO	6	EFO	genetic disorder	X-linked dominant intellectual disability - epilepsy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93951	"" []	3197815	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked dominant intellectual disability - epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93951	"" []	5183686	\N	\N	EFO	7	EFO	disease	X-linked dominant intellectual disability - epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93951	"" []	5999015	\N	\N	EFO	8	EFO	disposition	X-linked dominant intellectual disability - epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93951	"" []	6551991	\N	\N	EFO	9	EFO	material property	X-linked dominant intellectual disability - epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93951	"" []	6889611	\N	\N	EFO	10	EFO	experimental factor	X-linked dominant intellectual disability - epilepsy
Orphanet:93952	\N	\N	"" []	Orphanet:93952	"" []	78628	\N	\N	EFO	0	EFO	X-linked intellectual disability, Hedera type	X-linked intellectual disability, Hedera type
Orphanet:2076	Orphanet:93952	\N	"" []	Orphanet:93952	"" []	223511	\N	\N	EFO	1	EFO	X-linked intellectual disability - epilepsy	X-linked intellectual disability, Hedera type
Orphanet:166472	Orphanet:2076	\N	"" []	Orphanet:93952	"" []	580134	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	X-linked intellectual disability, Hedera type
Orphanet:98464	Orphanet:2076	\N	"" []	Orphanet:93952	"" []	580135	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked intellectual disability, Hedera type
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:93952	"" []	1163963	\N	\N	EFO	3	EFO	Rare genetic epilepsy	X-linked intellectual disability, Hedera type
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:93952	"" []	1163964	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked intellectual disability, Hedera type
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:93952	"" []	2047770	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Hedera type
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93952	"" []	2047771	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked intellectual disability, Hedera type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93952	"" []	4403191	\N	\N	EFO	6	EFO	genetic disorder	X-linked intellectual disability, Hedera type
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93952	"" []	3197817	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked intellectual disability, Hedera type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93952	"" []	5183687	\N	\N	EFO	7	EFO	disease	X-linked intellectual disability, Hedera type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93952	"" []	5999016	\N	\N	EFO	8	EFO	disposition	X-linked intellectual disability, Hedera type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93952	"" []	6551992	\N	\N	EFO	9	EFO	material property	X-linked intellectual disability, Hedera type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93952	"" []	6889612	\N	\N	EFO	10	EFO	experimental factor	X-linked intellectual disability, Hedera type
Orphanet:93955	\N	\N	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	78629	\N	\N	EFO	0	EFO	Benign essential blepharospasm	Benign essential blepharospasm
Orphanet:1866	Orphanet:93955	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	223512	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Benign essential blepharospasm
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	580136	\N	\N	EFO	2	EFO	Isolated dystonia	Benign essential blepharospasm
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	1163965	\N	\N	EFO	3	EFO	Rare genetic dystonia	Benign essential blepharospasm
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	2047772	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Benign essential blepharospasm
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	3197818	\N	\N	EFO	5	EFO	movement disorder	Benign essential blepharospasm
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	3197819	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Benign essential blepharospasm
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	4403192	\N	\N	EFO	6	EFO	nervous system disease	Benign essential blepharospasm
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	4403193	\N	\N	EFO	6	EFO	genetic disorder	Benign essential blepharospasm
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	5418984	\N	\N	EFO	7	EFO	disease	Benign essential blepharospasm
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	5418985	\N	\N	EFO	7	EFO	disease	Benign essential blepharospasm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	6153340	\N	\N	EFO	8	EFO	disposition	Benign essential blepharospasm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	6634374	\N	\N	EFO	9	EFO	material property	Benign essential blepharospasm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93955	"Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." []	6926316	\N	\N	EFO	10	EFO	experimental factor	Benign essential blepharospasm
Orphanet:93956	\N	\N	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	78630	\N	\N	EFO	0	EFO	Truncal dystonia	Truncal dystonia
Orphanet:1866	Orphanet:93956	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	223513	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Truncal dystonia
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	580137	\N	\N	EFO	2	EFO	Isolated dystonia	Truncal dystonia
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	1163966	\N	\N	EFO	3	EFO	Rare genetic dystonia	Truncal dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	2047773	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Truncal dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	3197820	\N	\N	EFO	5	EFO	movement disorder	Truncal dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	3197821	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Truncal dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	4403194	\N	\N	EFO	6	EFO	nervous system disease	Truncal dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	4403195	\N	\N	EFO	6	EFO	genetic disorder	Truncal dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	5418986	\N	\N	EFO	7	EFO	disease	Truncal dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	5418987	\N	\N	EFO	7	EFO	disease	Truncal dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	6153341	\N	\N	EFO	8	EFO	disposition	Truncal dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	6634375	\N	\N	EFO	9	EFO	material property	Truncal dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93956	"Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." []	6926317	\N	\N	EFO	10	EFO	experimental factor	Truncal dystonia
Orphanet:93957	\N	\N	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	78631	\N	\N	EFO	0	EFO	Limb dystonia	Limb dystonia
Orphanet:1866	Orphanet:93957	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	223514	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Limb dystonia
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	580138	\N	\N	EFO	2	EFO	Isolated dystonia	Limb dystonia
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	1163967	\N	\N	EFO	3	EFO	Rare genetic dystonia	Limb dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	2047774	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Limb dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	3197822	\N	\N	EFO	5	EFO	movement disorder	Limb dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	3197823	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Limb dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	4403196	\N	\N	EFO	6	EFO	nervous system disease	Limb dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	4403197	\N	\N	EFO	6	EFO	genetic disorder	Limb dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	5418988	\N	\N	EFO	7	EFO	disease	Limb dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	5418989	\N	\N	EFO	7	EFO	disease	Limb dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	6153342	\N	\N	EFO	8	EFO	disposition	Limb dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	6634376	\N	\N	EFO	9	EFO	material property	Limb dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93957	"Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." []	6926318	\N	\N	EFO	10	EFO	experimental factor	Limb dystonia
Orphanet:93958	\N	\N	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	78632	\N	\N	EFO	0	EFO	Oromandibular dystonia	Oromandibular dystonia
Orphanet:1866	Orphanet:93958	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	223515	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Oromandibular dystonia
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	580139	\N	\N	EFO	2	EFO	Isolated dystonia	Oromandibular dystonia
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	1163968	\N	\N	EFO	3	EFO	Rare genetic dystonia	Oromandibular dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	2047775	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Oromandibular dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	3197824	\N	\N	EFO	5	EFO	movement disorder	Oromandibular dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	3197825	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Oromandibular dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	4403198	\N	\N	EFO	6	EFO	nervous system disease	Oromandibular dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	4403199	\N	\N	EFO	6	EFO	genetic disorder	Oromandibular dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	5418990	\N	\N	EFO	7	EFO	disease	Oromandibular dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	5418991	\N	\N	EFO	7	EFO	disease	Oromandibular dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	6153343	\N	\N	EFO	8	EFO	disposition	Oromandibular dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	6634377	\N	\N	EFO	9	EFO	material property	Oromandibular dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93958	"Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." []	6926319	\N	\N	EFO	10	EFO	experimental factor	Oromandibular dystonia
Orphanet:93961	\N	\N	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	78633	\N	\N	EFO	0	EFO	Laryngeal dyskinesia	Laryngeal dyskinesia
Orphanet:1866	Orphanet:93961	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	223516	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Laryngeal dyskinesia
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	580140	\N	\N	EFO	2	EFO	Isolated dystonia	Laryngeal dyskinesia
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	1163969	\N	\N	EFO	3	EFO	Rare genetic dystonia	Laryngeal dyskinesia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	2047776	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Laryngeal dyskinesia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	3197826	\N	\N	EFO	5	EFO	movement disorder	Laryngeal dyskinesia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	3197827	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Laryngeal dyskinesia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	4403200	\N	\N	EFO	6	EFO	nervous system disease	Laryngeal dyskinesia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	4403201	\N	\N	EFO	6	EFO	genetic disorder	Laryngeal dyskinesia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	5418992	\N	\N	EFO	7	EFO	disease	Laryngeal dyskinesia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	5418993	\N	\N	EFO	7	EFO	disease	Laryngeal dyskinesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	6153344	\N	\N	EFO	8	EFO	disposition	Laryngeal dyskinesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	6634378	\N	\N	EFO	9	EFO	material property	Laryngeal dyskinesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93961	"Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." []	6926320	\N	\N	EFO	10	EFO	experimental factor	Laryngeal dyskinesia
Orphanet:93962	\N	\N	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	78634	\N	\N	EFO	0	EFO	Autosomal dominant cervical dystonia	Autosomal dominant cervical dystonia
Orphanet:1866	Orphanet:93962	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	223517	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Autosomal dominant cervical dystonia
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	580141	\N	\N	EFO	2	EFO	Isolated dystonia	Autosomal dominant cervical dystonia
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	1163970	\N	\N	EFO	3	EFO	Rare genetic dystonia	Autosomal dominant cervical dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	2047777	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Autosomal dominant cervical dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	3197828	\N	\N	EFO	5	EFO	movement disorder	Autosomal dominant cervical dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	3197829	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant cervical dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	4403202	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant cervical dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	4403203	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant cervical dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	5418994	\N	\N	EFO	7	EFO	disease	Autosomal dominant cervical dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	5418995	\N	\N	EFO	7	EFO	disease	Autosomal dominant cervical dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	6153345	\N	\N	EFO	8	EFO	disposition	Autosomal dominant cervical dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	6634379	\N	\N	EFO	9	EFO	material property	Autosomal dominant cervical dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93962	"Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." []	6926321	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant cervical dystonia
Orphanet:93963	\N	\N	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	78635	\N	\N	EFO	0	EFO	Autosomal dominant focal dystonia, DYT7 type	Autosomal dominant focal dystonia, DYT7 type
Orphanet:1866	Orphanet:93963	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	223518	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Autosomal dominant focal dystonia, DYT7 type
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	580142	\N	\N	EFO	2	EFO	Isolated dystonia	Autosomal dominant focal dystonia, DYT7 type
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	1163971	\N	\N	EFO	3	EFO	Rare genetic dystonia	Autosomal dominant focal dystonia, DYT7 type
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	2047778	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Autosomal dominant focal dystonia, DYT7 type
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	3197830	\N	\N	EFO	5	EFO	movement disorder	Autosomal dominant focal dystonia, DYT7 type
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	3197831	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant focal dystonia, DYT7 type
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	4403204	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant focal dystonia, DYT7 type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	4403205	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant focal dystonia, DYT7 type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	5418996	\N	\N	EFO	7	EFO	disease	Autosomal dominant focal dystonia, DYT7 type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	5418997	\N	\N	EFO	7	EFO	disease	Autosomal dominant focal dystonia, DYT7 type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	6153346	\N	\N	EFO	8	EFO	disposition	Autosomal dominant focal dystonia, DYT7 type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	6634380	\N	\N	EFO	9	EFO	material property	Autosomal dominant focal dystonia, DYT7 type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93963	"Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor." []	6926322	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant focal dystonia, DYT7 type
Orphanet:93964	\N	\N	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	78636	\N	\N	EFO	0	EFO	Blepharospasm - oromandibular dystonia	Blepharospasm - oromandibular dystonia
Orphanet:1866	Orphanet:93964	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	223519	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Blepharospasm - oromandibular dystonia
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	580143	\N	\N	EFO	2	EFO	Isolated dystonia	Blepharospasm - oromandibular dystonia
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	1163972	\N	\N	EFO	3	EFO	Rare genetic dystonia	Blepharospasm - oromandibular dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	2047779	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Blepharospasm - oromandibular dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	3197832	\N	\N	EFO	5	EFO	movement disorder	Blepharospasm - oromandibular dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	3197833	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Blepharospasm - oromandibular dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	4403206	\N	\N	EFO	6	EFO	nervous system disease	Blepharospasm - oromandibular dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	4403207	\N	\N	EFO	6	EFO	genetic disorder	Blepharospasm - oromandibular dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	5418998	\N	\N	EFO	7	EFO	disease	Blepharospasm - oromandibular dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	5418999	\N	\N	EFO	7	EFO	disease	Blepharospasm - oromandibular dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	6153347	\N	\N	EFO	8	EFO	disposition	Blepharospasm - oromandibular dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	6634381	\N	\N	EFO	9	EFO	material property	Blepharospasm - oromandibular dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93964	"Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." []	6926323	\N	\N	EFO	10	EFO	experimental factor	Blepharospasm - oromandibular dystonia
Orphanet:93969	\N	\N	"" []	Orphanet:93969	"" []	78637	\N	\N	EFO	0	EFO	Myelomeningocele	Myelomeningocele
Orphanet:268744	Orphanet:93969	\N	"" []	Orphanet:93969	"" []	223520	\N	\N	EFO	1	EFO	Spina bifida cystica	Myelomeningocele
Orphanet:823	Orphanet:268744	\N	"" []	Orphanet:93969	"" []	580144	\N	\N	EFO	2	EFO	Isolated spina bifida	Myelomeningocele
Orphanet:268357	Orphanet:823	\N	"" []	Orphanet:93969	"" []	1163973	\N	\N	EFO	3	EFO	Neural tube closure defect	Myelomeningocele
Orphanet:3388	Orphanet:268357	\N	"" []	Orphanet:93969	"" []	2047780	\N	\N	EFO	4	EFO	Neural tube defect	Myelomeningocele
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:93969	"" []	3197834	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Myelomeningocele
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:93969	"" []	4403208	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Myelomeningocele
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:93969	"" []	5419000	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Myelomeningocele
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:93969	"" []	5419001	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Myelomeningocele
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93969	"" []	6153348	\N	\N	EFO	8	EFO	genetic disorder	Myelomeningocele
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93969	"" []	6153349	\N	\N	EFO	8	EFO	genetic disorder	Myelomeningocele
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93969	"" []	6634382	\N	\N	EFO	9	EFO	disease	Myelomeningocele
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93969	"" []	6926324	\N	\N	EFO	10	EFO	disposition	Myelomeningocele
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93969	"" []	7099336	\N	\N	EFO	11	EFO	material property	Myelomeningocele
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93969	"" []	7208363	\N	\N	EFO	12	EFO	experimental factor	Myelomeningocele
Orphanet:93970	\N	\N	"" []	Orphanet:93970	"" []	78638	\N	\N	EFO	0	EFO	Holmes-Gang syndrome	Holmes-Gang syndrome
Orphanet:73220	Orphanet:93970	\N	"" []	Orphanet:93970	"" []	223521	\N	\N	EFO	1	EFO	X-linked intellectual disability - hypotonic face	Holmes-Gang syndrome
Orphanet:263355	Orphanet:73220	\N	"" []	Orphanet:93970	"" []	580145	\N	\N	EFO	2	EFO	ATR-X-related syndrome	Holmes-Gang syndrome
Orphanet:102283	Orphanet:263355	\N	"" []	Orphanet:93970	"" []	1163974	\N	\N	EFO	3	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Holmes-Gang syndrome
Orphanet:98464	Orphanet:263355	\N	"" []	Orphanet:93970	"" []	1163975	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Holmes-Gang syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93970	"" []	2047781	\N	\N	EFO	4	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Holmes-Gang syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:93970	"" []	2047782	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Holmes-Gang syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93970	"" []	3197835	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Holmes-Gang syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93970	"" []	3197836	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Holmes-Gang syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93970	"" []	4403209	\N	\N	EFO	6	EFO	genetic disorder	Holmes-Gang syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93970	"" []	4403210	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Holmes-Gang syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93970	"" []	6153351	\N	\N	EFO	8	EFO	disease	Holmes-Gang syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93970	"" []	5419003	\N	\N	EFO	7	EFO	genetic disorder	Holmes-Gang syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93970	"" []	6551993	\N	\N	EFO	9	EFO	disposition	Holmes-Gang syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93970	"" []	6889613	\N	\N	EFO	10	EFO	material property	Holmes-Gang syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93970	"" []	7086083	\N	\N	EFO	11	EFO	experimental factor	Holmes-Gang syndrome
Orphanet:93971	\N	\N	"" []	Orphanet:93971	"" []	78639	\N	\N	EFO	0	EFO	Chudley-Lowry-Hoar syndrome	Chudley-Lowry-Hoar syndrome
Orphanet:73220	Orphanet:93971	\N	"" []	Orphanet:93971	"" []	223522	\N	\N	EFO	1	EFO	X-linked intellectual disability - hypotonic face	Chudley-Lowry-Hoar syndrome
Orphanet:263355	Orphanet:73220	\N	"" []	Orphanet:93971	"" []	580146	\N	\N	EFO	2	EFO	ATR-X-related syndrome	Chudley-Lowry-Hoar syndrome
Orphanet:102283	Orphanet:263355	\N	"" []	Orphanet:93971	"" []	1163976	\N	\N	EFO	3	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Chudley-Lowry-Hoar syndrome
Orphanet:98464	Orphanet:263355	\N	"" []	Orphanet:93971	"" []	1163977	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Chudley-Lowry-Hoar syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93971	"" []	2047783	\N	\N	EFO	4	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Chudley-Lowry-Hoar syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:93971	"" []	2047784	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Chudley-Lowry-Hoar syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93971	"" []	3197837	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Chudley-Lowry-Hoar syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93971	"" []	3197838	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Chudley-Lowry-Hoar syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93971	"" []	4403211	\N	\N	EFO	6	EFO	genetic disorder	Chudley-Lowry-Hoar syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93971	"" []	4403212	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Chudley-Lowry-Hoar syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93971	"" []	6153353	\N	\N	EFO	8	EFO	disease	Chudley-Lowry-Hoar syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93971	"" []	5419005	\N	\N	EFO	7	EFO	genetic disorder	Chudley-Lowry-Hoar syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93971	"" []	6551994	\N	\N	EFO	9	EFO	disposition	Chudley-Lowry-Hoar syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93971	"" []	6889614	\N	\N	EFO	10	EFO	material property	Chudley-Lowry-Hoar syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93971	"" []	7086084	\N	\N	EFO	11	EFO	experimental factor	Chudley-Lowry-Hoar syndrome
Orphanet:93972	\N	\N	"" []	Orphanet:93972	"" []	78640	\N	\N	EFO	0	EFO	Juberg-Marsidi syndrome	Juberg-Marsidi syndrome
Orphanet:165707	Orphanet:93972	\N	"" []	Orphanet:93972	"" []	223523	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Juberg-Marsidi syndrome
Orphanet:73220	Orphanet:93972	\N	"" []	Orphanet:93972	"" []	223524	\N	\N	EFO	1	EFO	X-linked intellectual disability - hypotonic face	Juberg-Marsidi syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:93972	"" []	580147	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Juberg-Marsidi syndrome
Orphanet:263355	Orphanet:73220	\N	"" []	Orphanet:93972	"" []	580148	\N	\N	EFO	2	EFO	ATR-X-related syndrome	Juberg-Marsidi syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:93972	"" []	1163978	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Juberg-Marsidi syndrome
Orphanet:102283	Orphanet:263355	\N	"" []	Orphanet:93972	"" []	1163979	\N	\N	EFO	3	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Juberg-Marsidi syndrome
Orphanet:98464	Orphanet:263355	\N	"" []	Orphanet:93972	"" []	1163980	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Juberg-Marsidi syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93972	"" []	2047785	\N	\N	EFO	4	EFO	genetic disorder	Juberg-Marsidi syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93972	"" []	2047786	\N	\N	EFO	4	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Juberg-Marsidi syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:93972	"" []	2047787	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Juberg-Marsidi syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93972	"" []	6153355	\N	\N	EFO	8	EFO	disease	Juberg-Marsidi syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93972	"" []	3197840	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Juberg-Marsidi syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93972	"" []	3197841	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Juberg-Marsidi syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93972	"" []	6410427	\N	\N	EFO	9	EFO	disposition	Juberg-Marsidi syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93972	"" []	4403214	\N	\N	EFO	6	EFO	genetic disorder	Juberg-Marsidi syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93972	"" []	4403215	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Juberg-Marsidi syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93972	"" []	6808231	\N	\N	EFO	10	EFO	material property	Juberg-Marsidi syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93972	"" []	5419008	\N	\N	EFO	7	EFO	genetic disorder	Juberg-Marsidi syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93972	"" []	7048850	\N	\N	EFO	11	EFO	experimental factor	Juberg-Marsidi syndrome
Orphanet:93973	\N	\N	"" []	Orphanet:93973	"" []	78641	\N	\N	EFO	0	EFO	Carpenter-Waziri syndrome	Carpenter-Waziri syndrome
Orphanet:73220	Orphanet:93973	\N	"" []	Orphanet:93973	"" []	223525	\N	\N	EFO	1	EFO	X-linked intellectual disability - hypotonic face	Carpenter-Waziri syndrome
Orphanet:263355	Orphanet:73220	\N	"" []	Orphanet:93973	"" []	580149	\N	\N	EFO	2	EFO	ATR-X-related syndrome	Carpenter-Waziri syndrome
Orphanet:102283	Orphanet:263355	\N	"" []	Orphanet:93973	"" []	1163981	\N	\N	EFO	3	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Carpenter-Waziri syndrome
Orphanet:98464	Orphanet:263355	\N	"" []	Orphanet:93973	"" []	1163982	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Carpenter-Waziri syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93973	"" []	2047788	\N	\N	EFO	4	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Carpenter-Waziri syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:93973	"" []	2047789	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Carpenter-Waziri syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93973	"" []	3197842	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Carpenter-Waziri syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93973	"" []	3197843	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Carpenter-Waziri syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93973	"" []	4403216	\N	\N	EFO	6	EFO	genetic disorder	Carpenter-Waziri syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93973	"" []	4403217	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Carpenter-Waziri syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93973	"" []	6153357	\N	\N	EFO	8	EFO	disease	Carpenter-Waziri syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93973	"" []	5419010	\N	\N	EFO	7	EFO	genetic disorder	Carpenter-Waziri syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93973	"" []	6551995	\N	\N	EFO	9	EFO	disposition	Carpenter-Waziri syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93973	"" []	6889615	\N	\N	EFO	10	EFO	material property	Carpenter-Waziri syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93973	"" []	7086085	\N	\N	EFO	11	EFO	experimental factor	Carpenter-Waziri syndrome
Orphanet:93974	\N	\N	"" []	Orphanet:93974	"" []	78642	\N	\N	EFO	0	EFO	Smith-Fineman-Myers syndrome	Smith-Fineman-Myers syndrome
Orphanet:73220	Orphanet:93974	\N	"" []	Orphanet:93974	"" []	223526	\N	\N	EFO	1	EFO	X-linked intellectual disability - hypotonic face	Smith-Fineman-Myers syndrome
Orphanet:263355	Orphanet:73220	\N	"" []	Orphanet:93974	"" []	580150	\N	\N	EFO	2	EFO	ATR-X-related syndrome	Smith-Fineman-Myers syndrome
Orphanet:102283	Orphanet:263355	\N	"" []	Orphanet:93974	"" []	1163983	\N	\N	EFO	3	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Smith-Fineman-Myers syndrome
Orphanet:98464	Orphanet:263355	\N	"" []	Orphanet:93974	"" []	1163984	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Smith-Fineman-Myers syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93974	"" []	2047790	\N	\N	EFO	4	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Smith-Fineman-Myers syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:93974	"" []	2047791	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Smith-Fineman-Myers syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93974	"" []	3197844	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Smith-Fineman-Myers syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93974	"" []	3197845	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Smith-Fineman-Myers syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93974	"" []	4403218	\N	\N	EFO	6	EFO	genetic disorder	Smith-Fineman-Myers syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93974	"" []	4403219	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Smith-Fineman-Myers syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93974	"" []	6153359	\N	\N	EFO	8	EFO	disease	Smith-Fineman-Myers syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93974	"" []	5419012	\N	\N	EFO	7	EFO	genetic disorder	Smith-Fineman-Myers syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93974	"" []	6551996	\N	\N	EFO	9	EFO	disposition	Smith-Fineman-Myers syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93974	"" []	6889616	\N	\N	EFO	10	EFO	material property	Smith-Fineman-Myers syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93974	"" []	7086086	\N	\N	EFO	11	EFO	experimental factor	Smith-Fineman-Myers syndrome
Orphanet:93975	\N	\N	"" []	Orphanet:93975	"" []	78643	\N	\N	EFO	0	EFO	Renier-Gabreels-Jasper syndrome	Renier-Gabreels-Jasper syndrome
Orphanet:73220	Orphanet:93975	\N	"" []	Orphanet:93975	"" []	223527	\N	\N	EFO	1	EFO	X-linked intellectual disability - hypotonic face	Renier-Gabreels-Jasper syndrome
Orphanet:263355	Orphanet:73220	\N	"" []	Orphanet:93975	"" []	580151	\N	\N	EFO	2	EFO	ATR-X-related syndrome	Renier-Gabreels-Jasper syndrome
Orphanet:102283	Orphanet:263355	\N	"" []	Orphanet:93975	"" []	1163985	\N	\N	EFO	3	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Renier-Gabreels-Jasper syndrome
Orphanet:98464	Orphanet:263355	\N	"" []	Orphanet:93975	"" []	1163986	\N	\N	EFO	3	EFO	X-linked syndromic intellectual disability	Renier-Gabreels-Jasper syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:93975	"" []	2047792	\N	\N	EFO	4	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Renier-Gabreels-Jasper syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:93975	"" []	2047793	\N	\N	EFO	4	EFO	Rare genetic intellectual disability with developmental anomaly	Renier-Gabreels-Jasper syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:93975	"" []	3197846	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Renier-Gabreels-Jasper syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:93975	"" []	3197847	\N	\N	EFO	5	EFO	Rare genetic intellectual disability	Renier-Gabreels-Jasper syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93975	"" []	4403220	\N	\N	EFO	6	EFO	genetic disorder	Renier-Gabreels-Jasper syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:93975	"" []	4403221	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Renier-Gabreels-Jasper syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93975	"" []	6153361	\N	\N	EFO	8	EFO	disease	Renier-Gabreels-Jasper syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93975	"" []	5419014	\N	\N	EFO	7	EFO	genetic disorder	Renier-Gabreels-Jasper syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93975	"" []	6551997	\N	\N	EFO	9	EFO	disposition	Renier-Gabreels-Jasper syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93975	"" []	6889617	\N	\N	EFO	10	EFO	material property	Renier-Gabreels-Jasper syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93975	"" []	7086087	\N	\N	EFO	11	EFO	experimental factor	Renier-Gabreels-Jasper syndrome
Orphanet:93976	\N	\N	"Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." []	Orphanet:93976	"Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." []	78644	\N	\N	EFO	0	EFO	Anotia	Anotia
Orphanet:140162	Orphanet:93976	\N	"" []	Orphanet:93976	"Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." []	223528	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Anotia
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:93976	"Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." []	580152	\N	\N	EFO	2	EFO	genetic disorder	Anotia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:93976	"Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." []	1163987	\N	\N	EFO	3	EFO	disease	Anotia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:93976	"Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." []	2047794	\N	\N	EFO	4	EFO	disposition	Anotia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:93976	"Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." []	3197848	\N	\N	EFO	5	EFO	material property	Anotia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:93976	"Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." []	4403222	\N	\N	EFO	6	EFO	experimental factor	Anotia
Orphanet:94056	\N	\N	"" []	Orphanet:94056	"" []	78645	\N	\N	EFO	0	EFO	Humero-ulnar synostosis	Humero-ulnar synostosis
Orphanet:294949	Orphanet:94056	\N	"" []	Orphanet:94056	"" []	223529	\N	\N	EFO	1	EFO	Joint formation defects	Humero-ulnar synostosis
Orphanet:109011	Orphanet:294949	\N	"" []	Orphanet:94056	"" []	580153	\N	\N	EFO	2	EFO	Non-syndromic limb malformation	Humero-ulnar synostosis
Orphanet:404571	Orphanet:294949	\N	"" []	Orphanet:94056	"" []	580154	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Humero-ulnar synostosis
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:94056	"" []	1163988	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Humero-ulnar synostosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:94056	"" []	1163989	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Humero-ulnar synostosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:94056	"" []	2047795	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Humero-ulnar synostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:94056	"" []	2047796	\N	\N	EFO	4	EFO	Rare genetic bone disease	Humero-ulnar synostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:94056	"" []	2047797	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Humero-ulnar synostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94056	"" []	4403225	\N	\N	EFO	6	EFO	genetic disorder	Humero-ulnar synostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94056	"" []	3197850	\N	\N	EFO	5	EFO	genetic disorder	Humero-ulnar synostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:94056	"" []	3197851	\N	\N	EFO	5	EFO	bone disease	Humero-ulnar synostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:94056	"" []	3197852	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Humero-ulnar synostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94056	"" []	5183688	\N	\N	EFO	7	EFO	disease	Humero-ulnar synostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:94056	"" []	4403224	\N	\N	EFO	6	EFO	skeletal system disease	Humero-ulnar synostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94056	"" []	5999017	\N	\N	EFO	8	EFO	disposition	Humero-ulnar synostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94056	"" []	5419016	\N	\N	EFO	7	EFO	disease	Humero-ulnar synostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94056	"" []	6551998	\N	\N	EFO	9	EFO	material property	Humero-ulnar synostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94056	"" []	6889618	\N	\N	EFO	10	EFO	experimental factor	Humero-ulnar synostosis
Orphanet:94061	\N	\N	"" []	Orphanet:94061	"" []	78646	\N	\N	EFO	0	EFO	Macrocephaly - immune deficiency - anemia	Macrocephaly - immune deficiency - anemia
Orphanet:101997	Orphanet:94061	\N	"" []	Orphanet:94061	"" []	223530	\N	\N	EFO	1	EFO	Primary immunodeficiency	Macrocephaly - immune deficiency - anemia
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:94061	"" []	580155	\N	\N	EFO	2	EFO	Rare genetic immune disease	Macrocephaly - immune deficiency - anemia
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94061	"" []	1163990	\N	\N	EFO	3	EFO	genetic disorder	Macrocephaly - immune deficiency - anemia
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:94061	"" []	1163991	\N	\N	EFO	3	EFO	immune system disease	Macrocephaly - immune deficiency - anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94061	"" []	2047798	\N	\N	EFO	4	EFO	disease	Macrocephaly - immune deficiency - anemia
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94061	"" []	2047799	\N	\N	EFO	4	EFO	disease	Macrocephaly - immune deficiency - anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94061	"" []	3197853	\N	\N	EFO	5	EFO	disposition	Macrocephaly - immune deficiency - anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94061	"" []	4403226	\N	\N	EFO	6	EFO	material property	Macrocephaly - immune deficiency - anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94061	"" []	5419017	\N	\N	EFO	7	EFO	experimental factor	Macrocephaly - immune deficiency - anemia
Orphanet:94062	\N	\N	"" []	Orphanet:94062	"" []	78647	\N	\N	EFO	0	EFO	Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis	Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Orphanet:98054	Orphanet:94062	\N	"" []	Orphanet:94062	"" []	223531	\N	\N	EFO	1	EFO	Rare genetic cardiac disease	Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94062	"" []	580156	\N	\N	EFO	2	EFO	genetic disorder	Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:94062	"" []	580157	\N	\N	EFO	2	EFO	heart disease	Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94062	"" []	1163992	\N	\N	EFO	3	EFO	disease	Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:94062	"" []	1163993	\N	\N	EFO	3	EFO	cardiovascular disease	Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94062	"" []	3197855	\N	\N	EFO	5	EFO	disposition	Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94062	"" []	2047801	\N	\N	EFO	4	EFO	disease	Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94062	"" []	4134533	\N	\N	EFO	6	EFO	material property	Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94062	"" []	5183689	\N	\N	EFO	7	EFO	experimental factor	Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Orphanet:94063	\N	\N	"" []	Orphanet:94063	"" []	78648	\N	\N	EFO	0	EFO	12q14 microdeletion syndrome	12q14 microdeletion syndrome
Orphanet:183763	Orphanet:94063	\N	"" []	Orphanet:94063	"" []	223532	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	12q14 microdeletion syndrome
Orphanet:261821	Orphanet:94063	\N	"" []	Orphanet:94063	"" []	223533	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 12	12q14 microdeletion syndrome
Orphanet:93444	Orphanet:94063	\N	"" []	Orphanet:94063	"" []	223534	\N	\N	EFO	1	EFO	Primary bone dysplasia with increased bone density	12q14 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:94063	"" []	580158	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	12q14 microdeletion syndrome
Orphanet:282124	Orphanet:261821	\N	"" []	Orphanet:94063	"" []	580159	\N	\N	EFO	2	EFO	Partial deletion of chromosome 12	12q14 microdeletion syndrome
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:94063	"" []	580160	\N	\N	EFO	2	EFO	Primary bone dysplasia	12q14 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:94063	"" []	1163994	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	12q14 microdeletion syndrome
Orphanet:98142	Orphanet:282124	\N	"" []	Orphanet:94063	"" []	1163995	\N	\N	EFO	3	EFO	Partial autosomal monosomy	12q14 microdeletion syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:94063	"" []	1163996	\N	\N	EFO	3	EFO	Rare genetic bone disease	12q14 microdeletion syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:94063	"" []	1163997	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	12q14 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94063	"" []	2047802	\N	\N	EFO	4	EFO	genetic disorder	12q14 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:94063	"" []	2047803	\N	\N	EFO	4	EFO	Autosomal monosomy	12q14 microdeletion syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94063	"" []	2047804	\N	\N	EFO	4	EFO	genetic disorder	12q14 microdeletion syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:94063	"" []	2047805	\N	\N	EFO	4	EFO	bone disease	12q14 microdeletion syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:94063	"" []	2047806	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	12q14 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94063	"" []	6153364	\N	\N	EFO	8	EFO	disease	12q14 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:94063	"" []	3197857	\N	\N	EFO	5	EFO	Autosomal anomaly	12q14 microdeletion syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:94063	"" []	3197858	\N	\N	EFO	5	EFO	skeletal system disease	12q14 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94063	"" []	3197859	\N	\N	EFO	5	EFO	genetic disorder	12q14 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94063	"" []	6410428	\N	\N	EFO	9	EFO	disposition	12q14 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:94063	"" []	4403229	\N	\N	EFO	6	EFO	Chromosomal anomaly	12q14 microdeletion syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94063	"" []	4403230	\N	\N	EFO	6	EFO	disease	12q14 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94063	"" []	6808232	\N	\N	EFO	10	EFO	material property	12q14 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94063	"" []	5419019	\N	\N	EFO	7	EFO	genetic disorder	12q14 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94063	"" []	7048851	\N	\N	EFO	11	EFO	experimental factor	12q14 microdeletion syndrome
Orphanet:94064	\N	\N	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	78649	\N	\N	EFO	0	EFO	Deafness-infertility syndrome	Deafness-infertility syndrome
Orphanet:262119	Orphanet:94064	\N	"" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	223535	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 15	Deafness-infertility syndrome
Orphanet:399813	Orphanet:94064	\N	"" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	223536	\N	\N	EFO	1	EFO	Male infertility due to sperm motility disorder	Deafness-infertility syndrome
Orphanet:90642	Orphanet:94064	\N	"" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	223537	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Deafness-infertility syndrome
Orphanet:98142	Orphanet:262119	\N	"" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	580161	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Deafness-infertility syndrome
Orphanet:399771	Orphanet:399813	\N	"" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	580162	\N	\N	EFO	2	EFO	Male infertility due to sperm disorder	Deafness-infertility syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	580163	\N	\N	EFO	2	EFO	Rare genetic deafness	Deafness-infertility syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	1163998	\N	\N	EFO	3	EFO	Autosomal monosomy	Deafness-infertility syndrome
Orphanet:399764	Orphanet:399771	\N	"" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	1163999	\N	\N	EFO	3	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Deafness-infertility syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	1164000	\N	\N	EFO	3	EFO	genetic disorder	Deafness-infertility syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	1164001	\N	\N	EFO	3	EFO	auditory system disease	Deafness-infertility syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	2047807	\N	\N	EFO	4	EFO	Autosomal anomaly	Deafness-infertility syndrome
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	2047808	\N	\N	EFO	4	EFO	Rare genetic male infertility	Deafness-infertility syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	5419020	\N	\N	EFO	7	EFO	disease	Deafness-infertility syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	2047810	\N	\N	EFO	4	EFO	sensory system disease	Deafness-infertility syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	3197860	\N	\N	EFO	5	EFO	Chromosomal anomaly	Deafness-infertility syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	3197861	\N	\N	EFO	5	EFO	Genetic infertility	Deafness-infertility syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	5817911	\N	\N	EFO	8	EFO	disposition	Deafness-infertility syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	3197863	\N	\N	EFO	5	EFO	nervous system disease	Deafness-infertility syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	4403232	\N	\N	EFO	6	EFO	genetic disorder	Deafness-infertility syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	4403233	\N	\N	EFO	6	EFO	genetic disorder	Deafness-infertility syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	4403234	\N	\N	EFO	6	EFO	reproductive system disease	Deafness-infertility syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	6410429	\N	\N	EFO	9	EFO	material property	Deafness-infertility syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	4403236	\N	\N	EFO	6	EFO	disease	Deafness-infertility syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	5419021	\N	\N	EFO	7	EFO	disease	Deafness-infertility syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94064	"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." []	6808233	\N	\N	EFO	10	EFO	experimental factor	Deafness-infertility syndrome
Orphanet:94065	\N	\N	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	78650	\N	\N	EFO	0	EFO	15q24 microdeletion syndrome	15q24 microdeletion syndrome
Orphanet:102283	Orphanet:94065	\N	"" []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	223538	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	15q24 microdeletion syndrome
Orphanet:183763	Orphanet:94065	\N	"" []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	223539	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	15q24 microdeletion syndrome
Orphanet:262119	Orphanet:94065	\N	"" []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	223540	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 15	15q24 microdeletion syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	580164	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	15q24 microdeletion syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	580165	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	15q24 microdeletion syndrome
Orphanet:98142	Orphanet:262119	\N	"" []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	580166	\N	\N	EFO	2	EFO	Partial autosomal monosomy	15q24 microdeletion syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	1164002	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	15q24 microdeletion syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	1164003	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	15q24 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	1164004	\N	\N	EFO	3	EFO	Autosomal monosomy	15q24 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	2047811	\N	\N	EFO	4	EFO	genetic disorder	15q24 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	2047812	\N	\N	EFO	4	EFO	genetic disorder	15q24 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	2047813	\N	\N	EFO	4	EFO	Autosomal anomaly	15q24 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	5419025	\N	\N	EFO	7	EFO	disease	15q24 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	3197865	\N	\N	EFO	5	EFO	Chromosomal anomaly	15q24 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	5877887	\N	\N	EFO	8	EFO	disposition	15q24 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	4403238	\N	\N	EFO	6	EFO	genetic disorder	15q24 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	6471094	\N	\N	EFO	9	EFO	material property	15q24 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94065	"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." []	6848896	\N	\N	EFO	10	EFO	experimental factor	15q24 microdeletion syndrome
Orphanet:94066	\N	\N	"" []	Orphanet:94066	"" []	78651	\N	\N	EFO	0	EFO	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
Orphanet:102283	Orphanet:94066	\N	"" []	Orphanet:94066	"" []	223541	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
Orphanet:183763	Orphanet:94066	\N	"" []	Orphanet:94066	"" []	223542	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:94066	"" []	580167	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:94066	"" []	580168	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:94066	"" []	1164005	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:94066	"" []	1164006	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94066	"" []	2047814	\N	\N	EFO	4	EFO	genetic disorder	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94066	"" []	2047815	\N	\N	EFO	4	EFO	genetic disorder	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94066	"" []	3197866	\N	\N	EFO	5	EFO	disease	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94066	"" []	4403239	\N	\N	EFO	6	EFO	disposition	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94066	"" []	5419026	\N	\N	EFO	7	EFO	material property	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94066	"" []	6153366	\N	\N	EFO	8	EFO	experimental factor	Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
Orphanet:94068	\N	\N	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	78652	\N	\N	EFO	0	EFO	Spondyloepiphyseal dysplasia congenita	Spondyloepiphyseal dysplasia congenita
Orphanet:253	Orphanet:94068	\N	"" []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	223543	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepiphyseal dysplasia congenita
Orphanet:93421	Orphanet:94068	\N	"" []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	223544	\N	\N	EFO	1	EFO	Type 2 collagen-related bone disorder	Spondyloepiphyseal dysplasia congenita
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	580169	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepiphyseal dysplasia congenita
Orphanet:364803	Orphanet:93421	\N	"" []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	580170	\N	\N	EFO	2	EFO	Rare bone disease related to a common gene or pathway defect	Spondyloepiphyseal dysplasia congenita
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	1164007	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia congenita
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	1164008	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepiphyseal dysplasia congenita
Orphanet:183524	Orphanet:364803	\N	"" []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	1164009	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepiphyseal dysplasia congenita
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	2047816	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepiphyseal dysplasia congenita
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	2047817	\N	\N	EFO	4	EFO	bone disease	Spondyloepiphyseal dysplasia congenita
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	2047818	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepiphyseal dysplasia congenita
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	4403242	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia congenita
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	3197868	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepiphyseal dysplasia congenita
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	3197869	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepiphyseal dysplasia congenita
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	5183691	\N	\N	EFO	7	EFO	disposition	Spondyloepiphyseal dysplasia congenita
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	4403241	\N	\N	EFO	6	EFO	disease	Spondyloepiphyseal dysplasia congenita
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	5999019	\N	\N	EFO	8	EFO	material property	Spondyloepiphyseal dysplasia congenita
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94068	"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." []	6552000	\N	\N	EFO	9	EFO	experimental factor	Spondyloepiphyseal dysplasia congenita
Orphanet:94083	\N	\N	"" []	Orphanet:94083	"" []	78653	\N	\N	EFO	0	EFO	Partington syndrome	Partington syndrome
Orphanet:182079	Orphanet:94083	\N	"" []	Orphanet:94083	"" []	223545	\N	\N	EFO	1	EFO	ARX-related epileptic encephalopathy	Partington syndrome
Orphanet:98464	Orphanet:94083	\N	"" []	Orphanet:94083	"" []	223546	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Partington syndrome
Orphanet:166472	Orphanet:182079	\N	"" []	Orphanet:94083	"" []	580171	\N	\N	EFO	2	EFO	Monogenic disease with epilepsy	Partington syndrome
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:94083	"" []	580172	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Partington syndrome
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:94083	"" []	1164010	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Partington syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:94083	"" []	1164011	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Partington syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:94083	"" []	2047819	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Partington syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:94083	"" []	2047820	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Partington syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94083	"" []	3197870	\N	\N	EFO	5	EFO	genetic disorder	Partington syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94083	"" []	4403243	\N	\N	EFO	6	EFO	disease	Partington syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94083	"" []	5419028	\N	\N	EFO	7	EFO	disposition	Partington syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94083	"" []	6153368	\N	\N	EFO	8	EFO	material property	Partington syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94083	"" []	6634389	\N	\N	EFO	9	EFO	experimental factor	Partington syndrome
Orphanet:94086	\N	\N	"" []	Orphanet:94086	"" []	78654	\N	\N	EFO	0	EFO	Blue diaper syndrome	Blue diaper syndrome
Orphanet:79166	Orphanet:94086	\N	"" []	Orphanet:94086	"" []	223547	\N	\N	EFO	1	EFO	Disorder of amino acid absorption and transport	Blue diaper syndrome
Orphanet:79062	Orphanet:79166	\N	"" []	Orphanet:94086	"" []	580173	\N	\N	EFO	2	EFO	Disorder of amino acid and other organic acid metabolism	Blue diaper syndrome
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:94086	"" []	1164012	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Blue diaper syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94086	"" []	2047821	\N	\N	EFO	4	EFO	genetic disorder	Blue diaper syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:94086	"" []	2047822	\N	\N	EFO	4	EFO	metabolic disease	Blue diaper syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94086	"" []	3197871	\N	\N	EFO	5	EFO	disease	Blue diaper syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94086	"" []	3197872	\N	\N	EFO	5	EFO	disease	Blue diaper syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94086	"" []	4403244	\N	\N	EFO	6	EFO	disposition	Blue diaper syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94086	"" []	5419029	\N	\N	EFO	7	EFO	material property	Blue diaper syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94086	"" []	6153369	\N	\N	EFO	8	EFO	experimental factor	Blue diaper syndrome
Orphanet:94088	\N	\N	"Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." []	Orphanet:94088	"Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." []	78655	\N	\N	EFO	0	EFO	Hereditary renal hypouricemia	Hereditary renal hypouricemia
Orphanet:183592	Orphanet:94088	\N	"" []	Orphanet:94088	"Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." []	223548	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Hereditary renal hypouricemia
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:94088	"Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." []	580174	\N	\N	EFO	2	EFO	Rare genetic renal disease	Hereditary renal hypouricemia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94088	"Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." []	1164013	\N	\N	EFO	3	EFO	genetic disorder	Hereditary renal hypouricemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94088	"Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." []	2047823	\N	\N	EFO	4	EFO	disease	Hereditary renal hypouricemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94088	"Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." []	3197873	\N	\N	EFO	5	EFO	disposition	Hereditary renal hypouricemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94088	"Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." []	4403245	\N	\N	EFO	6	EFO	material property	Hereditary renal hypouricemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94088	"Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." []	5419030	\N	\N	EFO	7	EFO	experimental factor	Hereditary renal hypouricemia
Orphanet:94089	\N	\N	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	78656	\N	\N	EFO	0	EFO	Pseudohypoparathyroidism type 1B	Pseudohypoparathyroidism type 1B
Orphanet:97593	Orphanet:94089	\N	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	223549	\N	\N	EFO	1	EFO	Pseudohypoparathyroidism	Pseudohypoparathyroidism type 1B
Orphanet:139009	Orphanet:97593	\N	"" []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	580175	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Pseudohypoparathyroidism type 1B
Orphanet:183592	Orphanet:97593	\N	"" []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	580176	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Pseudohypoparathyroidism type 1B
Orphanet:208593	Orphanet:97593	\N	"" []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	580177	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Pseudohypoparathyroidism type 1B
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	1164014	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pseudohypoparathyroidism type 1B
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	1164015	\N	\N	EFO	3	EFO	Rare genetic renal disease	Pseudohypoparathyroidism type 1B
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	1164016	\N	\N	EFO	3	EFO	parathyroid disease	Pseudohypoparathyroidism type 1B
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	1164017	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Pseudohypoparathyroidism type 1B
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	2047824	\N	\N	EFO	4	EFO	genetic disorder	Pseudohypoparathyroidism type 1B
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	2047825	\N	\N	EFO	4	EFO	genetic disorder	Pseudohypoparathyroidism type 1B
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	2047826	\N	\N	EFO	4	EFO	calcium metabolic disease	Pseudohypoparathyroidism type 1B
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	2047827	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Pseudohypoparathyroidism type 1B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	4403248	\N	\N	EFO	6	EFO	disease	Pseudohypoparathyroidism type 1B
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	3197875	\N	\N	EFO	5	EFO	metabolic disease	Pseudohypoparathyroidism type 1B
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	3197876	\N	\N	EFO	5	EFO	genetic disorder	Pseudohypoparathyroidism type 1B
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	3197877	\N	\N	EFO	5	EFO	endocrine system disease	Pseudohypoparathyroidism type 1B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	5183692	\N	\N	EFO	7	EFO	disposition	Pseudohypoparathyroidism type 1B
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	4403247	\N	\N	EFO	6	EFO	disease	Pseudohypoparathyroidism type 1B
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	4403249	\N	\N	EFO	6	EFO	disease	Pseudohypoparathyroidism type 1B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	5999020	\N	\N	EFO	8	EFO	material property	Pseudohypoparathyroidism type 1B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94089	"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." []	6552001	\N	\N	EFO	9	EFO	experimental factor	Pseudohypoparathyroidism type 1B
Orphanet:94090	\N	\N	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	78657	\N	\N	EFO	0	EFO	Pseudohypoparathyroidism type 2	Pseudohypoparathyroidism type 2
Orphanet:97593	Orphanet:94090	\N	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	223550	\N	\N	EFO	1	EFO	Pseudohypoparathyroidism	Pseudohypoparathyroidism type 2
Orphanet:139009	Orphanet:97593	\N	"" []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	580178	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Pseudohypoparathyroidism type 2
Orphanet:183592	Orphanet:97593	\N	"" []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	580179	\N	\N	EFO	2	EFO	Genetic renal tubular disease	Pseudohypoparathyroidism type 2
Orphanet:208593	Orphanet:97593	\N	"" []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	580180	\N	\N	EFO	2	EFO	Genetic hypoparathyroidism	Pseudohypoparathyroidism type 2
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	1164018	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Pseudohypoparathyroidism type 2
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	1164019	\N	\N	EFO	3	EFO	Rare genetic renal disease	Pseudohypoparathyroidism type 2
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	1164020	\N	\N	EFO	3	EFO	parathyroid disease	Pseudohypoparathyroidism type 2
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	1164021	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Pseudohypoparathyroidism type 2
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	2047828	\N	\N	EFO	4	EFO	genetic disorder	Pseudohypoparathyroidism type 2
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	2047829	\N	\N	EFO	4	EFO	genetic disorder	Pseudohypoparathyroidism type 2
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	2047830	\N	\N	EFO	4	EFO	calcium metabolic disease	Pseudohypoparathyroidism type 2
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	2047831	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Pseudohypoparathyroidism type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	4403252	\N	\N	EFO	6	EFO	disease	Pseudohypoparathyroidism type 2
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	3197879	\N	\N	EFO	5	EFO	metabolic disease	Pseudohypoparathyroidism type 2
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	3197880	\N	\N	EFO	5	EFO	genetic disorder	Pseudohypoparathyroidism type 2
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	3197881	\N	\N	EFO	5	EFO	endocrine system disease	Pseudohypoparathyroidism type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	5183693	\N	\N	EFO	7	EFO	disposition	Pseudohypoparathyroidism type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	4403251	\N	\N	EFO	6	EFO	disease	Pseudohypoparathyroidism type 2
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	4403253	\N	\N	EFO	6	EFO	disease	Pseudohypoparathyroidism type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	5999021	\N	\N	EFO	8	EFO	material property	Pseudohypoparathyroidism type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94090	"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." []	6552002	\N	\N	EFO	9	EFO	experimental factor	Pseudohypoparathyroidism type 2
Orphanet:94095	\N	\N	"" []	Orphanet:94095	"" []	78658	\N	\N	EFO	0	EFO	Spondylocostal dysostosis - anal and genitourinary malformations	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:117573	Orphanet:94095	\N	"" []	Orphanet:94095	"" []	223551	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:165707	Orphanet:94095	\N	"" []	Orphanet:94095	"" []	223552	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:183763	Orphanet:94095	\N	"" []	Orphanet:94095	"" []	223553	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:93454	Orphanet:94095	\N	"" []	Orphanet:94095	"" []	223554	\N	\N	EFO	1	EFO	Dysostosis with predominant vertebral and costal involvement	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:94095	"" []	580181	\N	\N	EFO	2	EFO	Anorectal malformation	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:94095	"" []	580182	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:94095	"" []	580183	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:404568	Orphanet:93454	\N	"" []	Orphanet:94095	"" []	580184	\N	\N	EFO	2	EFO	Dysostosis of genetic origin	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:94095	"" []	1164022	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:94095	"" []	1164023	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:94095	"" []	1164024	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:94095	"" []	1164025	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:94095	"" []	1164026	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:94095	"" []	2047832	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylocostal dysostosis - anal and genitourinary malformations
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94095	"" []	2047833	\N	\N	EFO	4	EFO	genetic disorder	Spondylocostal dysostosis - anal and genitourinary malformations
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94095	"" []	2047834	\N	\N	EFO	4	EFO	genetic disorder	Spondylocostal dysostosis - anal and genitourinary malformations
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94095	"" []	2047835	\N	\N	EFO	4	EFO	genetic disorder	Spondylocostal dysostosis - anal and genitourinary malformations
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:94095	"" []	2047836	\N	\N	EFO	4	EFO	bone disease	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:94095	"" []	2047837	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondylocostal dysostosis - anal and genitourinary malformations
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94095	"" []	3197882	\N	\N	EFO	5	EFO	genetic disorder	Spondylocostal dysostosis - anal and genitourinary malformations
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94095	"" []	4403254	\N	\N	EFO	6	EFO	disease	Spondylocostal dysostosis - anal and genitourinary malformations
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:94095	"" []	3197884	\N	\N	EFO	5	EFO	skeletal system disease	Spondylocostal dysostosis - anal and genitourinary malformations
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94095	"" []	5183694	\N	\N	EFO	7	EFO	disposition	Spondylocostal dysostosis - anal and genitourinary malformations
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94095	"" []	4403256	\N	\N	EFO	6	EFO	disease	Spondylocostal dysostosis - anal and genitourinary malformations
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94095	"" []	5999022	\N	\N	EFO	8	EFO	material property	Spondylocostal dysostosis - anal and genitourinary malformations
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94095	"" []	6552003	\N	\N	EFO	9	EFO	experimental factor	Spondylocostal dysostosis - anal and genitourinary malformations
Orphanet:941	\N	\N	"" []	Orphanet:941	"" []	78659	\N	\N	EFO	0	EFO	D-glyceric aciduria	D-glyceric aciduria
Orphanet:308998	Orphanet:941	\N	"" []	Orphanet:941	"" []	223555	\N	\N	EFO	1	EFO	Disorder of glyoxylate metabolism	D-glyceric aciduria
Orphanet:79161	Orphanet:308998	\N	"" []	Orphanet:941	"" []	580185	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	D-glyceric aciduria
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:941	"" []	1164027	\N	\N	EFO	3	EFO	Inborn errors of metabolism	D-glyceric aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:941	"" []	2047838	\N	\N	EFO	4	EFO	genetic disorder	D-glyceric aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:941	"" []	2047839	\N	\N	EFO	4	EFO	metabolic disease	D-glyceric aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:941	"" []	3197885	\N	\N	EFO	5	EFO	disease	D-glyceric aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:941	"" []	3197886	\N	\N	EFO	5	EFO	disease	D-glyceric aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:941	"" []	4403257	\N	\N	EFO	6	EFO	disposition	D-glyceric aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:941	"" []	5419034	\N	\N	EFO	7	EFO	material property	D-glyceric aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:941	"" []	6153373	\N	\N	EFO	8	EFO	experimental factor	D-glyceric aciduria
Orphanet:94122	\N	\N	"" []	Orphanet:94122	"" []	78660	\N	\N	EFO	0	EFO	Cerebellar ataxia, Cayman type	Cerebellar ataxia, Cayman type
Orphanet:98095	Orphanet:94122	\N	"" []	Orphanet:94122	"" []	223556	\N	\N	EFO	1	EFO	Autosomal recessive congenital cerebellar ataxia	Cerebellar ataxia, Cayman type
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:94122	"" []	580186	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Cerebellar ataxia, Cayman type
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:94122	"" []	1164028	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Cerebellar ataxia, Cayman type
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:94122	"" []	1164029	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Cerebellar ataxia, Cayman type
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:94122	"" []	1164030	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Cerebellar ataxia, Cayman type
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:94122	"" []	2047840	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Cerebellar ataxia, Cayman type
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:94122	"" []	2047841	\N	\N	EFO	4	EFO	Ataxia with dementia	Cerebellar ataxia, Cayman type
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:94122	"" []	2047842	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Cerebellar ataxia, Cayman type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94122	"" []	6153376	\N	\N	EFO	8	EFO	genetic disorder	Cerebellar ataxia, Cayman type
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:94122	"" []	3197888	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Cerebellar ataxia, Cayman type
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:94122	"" []	3197889	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Cerebellar ataxia, Cayman type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94122	"" []	6410430	\N	\N	EFO	9	EFO	disease	Cerebellar ataxia, Cayman type
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:94122	"" []	4403259	\N	\N	EFO	6	EFO	Genetic dementia	Cerebellar ataxia, Cayman type
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:94122	"" []	4403260	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Cerebellar ataxia, Cayman type
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:94122	"" []	4403261	\N	\N	EFO	6	EFO	Rare genetic eye disease	Cerebellar ataxia, Cayman type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94122	"" []	6808234	\N	\N	EFO	10	EFO	disposition	Cerebellar ataxia, Cayman type
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94122	"" []	5419036	\N	\N	EFO	7	EFO	brain disease	Cerebellar ataxia, Cayman type
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:94122	"" []	5419037	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Cerebellar ataxia, Cayman type
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:94122	"" []	5419038	\N	\N	EFO	7	EFO	neurodegenerative disease	Cerebellar ataxia, Cayman type
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94122	"" []	5419039	\N	\N	EFO	7	EFO	brain disease	Cerebellar ataxia, Cayman type
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:94122	"" []	5419040	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Cerebellar ataxia, Cayman type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94122	"" []	5419041	\N	\N	EFO	7	EFO	genetic disorder	Cerebellar ataxia, Cayman type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:94122	"" []	5419042	\N	\N	EFO	7	EFO	eye disease	Cerebellar ataxia, Cayman type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94122	"" []	7048852	\N	\N	EFO	11	EFO	material property	Cerebellar ataxia, Cayman type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94122	"" []	6153375	\N	\N	EFO	8	EFO	nervous system disease	Cerebellar ataxia, Cayman type
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94122	"" []	6153377	\N	\N	EFO	8	EFO	nervous system disease	Cerebellar ataxia, Cayman type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94122	"" []	6153379	\N	\N	EFO	8	EFO	disease	Cerebellar ataxia, Cayman type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94122	"" []	7190263	\N	\N	EFO	12	EFO	experimental factor	Cerebellar ataxia, Cayman type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94122	"" []	6634391	\N	\N	EFO	9	EFO	disease	Cerebellar ataxia, Cayman type
Orphanet:94124	\N	\N	"" []	Orphanet:94124	"" []	78661	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 1 with axonal neuropathy	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:98097	Orphanet:94124	\N	"" []	Orphanet:94124	"" []	223557	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:98497	Orphanet:94124	\N	"" []	Orphanet:94124	"" []	223558	\N	\N	EFO	1	EFO	Genetic peripheral neuropathy	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:1172	Orphanet:98097	\N	"" []	Orphanet:94124	"" []	580187	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:94124	"" []	580188	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:94124	"" []	1164031	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:94124	"" []	1164032	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:94124	"" []	1164033	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 1 with axonal neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94124	"" []	6153381	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:94124	"" []	2047843	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:94124	"" []	2047844	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:94124	"" []	2047845	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 1 with axonal neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94124	"" []	6370841	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:94124	"" []	3197891	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:94124	"" []	3197892	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 1 with axonal neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94124	"" []	6762407	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:94124	"" []	4403262	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:94124	"" []	4403263	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:94124	"" []	4403264	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 1 with axonal neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94124	"" []	7015720	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 1 with axonal neuropathy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94124	"" []	5419043	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:94124	"" []	5419044	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 1 with axonal neuropathy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:94124	"" []	5419045	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 1 with axonal neuropathy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94124	"" []	5419046	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:94124	"" []	5419047	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 1 with axonal neuropathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94124	"" []	5419048	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 1 with axonal neuropathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:94124	"" []	5419049	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 1 with axonal neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94124	"" []	7173665	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 1 with axonal neuropathy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94124	"" []	6153380	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 1 with axonal neuropathy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94124	"" []	6153382	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 1 with axonal neuropathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94124	"" []	6153384	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 1 with axonal neuropathy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94124	"" []	6634392	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 1 with axonal neuropathy
Orphanet:94125	\N	\N	"" []	Orphanet:94125	"" []	78662	\N	\N	EFO	0	EFO	Recessive mitochondrial ataxia syndrome	Recessive mitochondrial ataxia syndrome
Orphanet:254818	Orphanet:94125	\N	"" []	Orphanet:94125	"" []	223559	\N	\N	EFO	1	EFO	Ataxia neuropathy spectrum	Recessive mitochondrial ataxia syndrome
Orphanet:98096	Orphanet:94125	\N	"" []	Orphanet:94125	"" []	223560	\N	\N	EFO	1	EFO	Autosomal recessive metabolic cerebellar ataxia	Recessive mitochondrial ataxia syndrome
Orphanet:254807	Orphanet:254818	\N	"" []	Orphanet:94125	"" []	580189	\N	\N	EFO	2	EFO	Multiple mitochondrial DNA deletion syndrome	Recessive mitochondrial ataxia syndrome
Orphanet:1172	Orphanet:98096	\N	"" []	Orphanet:94125	"" []	580190	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Recessive mitochondrial ataxia syndrome
Orphanet:352456	Orphanet:254807	\N	"" []	Orphanet:94125	"" []	1164035	\N	\N	EFO	3	EFO	Mitochondrial DNA maintenance syndrome	Recessive mitochondrial ataxia syndrome
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:94125	"" []	1164036	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Recessive mitochondrial ataxia syndrome
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:94125	"" []	1164037	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Recessive mitochondrial ataxia syndrome
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:94125	"" []	1164038	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Recessive mitochondrial ataxia syndrome
Orphanet:2443	Orphanet:352456	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:94125	"" []	2047847	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Recessive mitochondrial ataxia syndrome
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:94125	"" []	2047848	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Recessive mitochondrial ataxia syndrome
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:94125	"" []	2047849	\N	\N	EFO	4	EFO	Ataxia with dementia	Recessive mitochondrial ataxia syndrome
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:94125	"" []	2047850	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Recessive mitochondrial ataxia syndrome
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:94125	"" []	3197894	\N	\N	EFO	5	EFO	Mitochondrial oxidative phosphorylation disorder	Recessive mitochondrial ataxia syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94125	"" []	6153389	\N	\N	EFO	8	EFO	genetic disorder	Recessive mitochondrial ataxia syndrome
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:94125	"" []	3197896	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Recessive mitochondrial ataxia syndrome
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:94125	"" []	3197897	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Recessive mitochondrial ataxia syndrome
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:94125	"" []	4403266	\N	\N	EFO	6	EFO	Mitochondrial disease	Recessive mitochondrial ataxia syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94125	"" []	6926330	\N	\N	EFO	10	EFO	disease	Recessive mitochondrial ataxia syndrome
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:94125	"" []	4403268	\N	\N	EFO	6	EFO	Genetic dementia	Recessive mitochondrial ataxia syndrome
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:94125	"" []	4403269	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Recessive mitochondrial ataxia syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:94125	"" []	4403270	\N	\N	EFO	6	EFO	Rare genetic eye disease	Recessive mitochondrial ataxia syndrome
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:94125	"" []	5419051	\N	\N	EFO	7	EFO	Developmental anomaly of metabolic origin	Recessive mitochondrial ataxia syndrome
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:94125	"" []	5419052	\N	\N	EFO	7	EFO	Disorder of energy metabolism	Recessive mitochondrial ataxia syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94125	"" []	7030045	\N	\N	EFO	11	EFO	disposition	Recessive mitochondrial ataxia syndrome
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94125	"" []	5419054	\N	\N	EFO	7	EFO	brain disease	Recessive mitochondrial ataxia syndrome
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:94125	"" []	5419055	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Recessive mitochondrial ataxia syndrome
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:94125	"" []	5419056	\N	\N	EFO	7	EFO	neurodegenerative disease	Recessive mitochondrial ataxia syndrome
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94125	"" []	5419057	\N	\N	EFO	7	EFO	brain disease	Recessive mitochondrial ataxia syndrome
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:94125	"" []	5419058	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Recessive mitochondrial ataxia syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94125	"" []	5419059	\N	\N	EFO	7	EFO	genetic disorder	Recessive mitochondrial ataxia syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:94125	"" []	5419060	\N	\N	EFO	7	EFO	eye disease	Recessive mitochondrial ataxia syndrome
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:94125	"" []	6153385	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Recessive mitochondrial ataxia syndrome
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:94125	"" []	6153386	\N	\N	EFO	8	EFO	Inborn errors of metabolism	Recessive mitochondrial ataxia syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94125	"" []	7181836	\N	\N	EFO	12	EFO	material property	Recessive mitochondrial ataxia syndrome
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94125	"" []	6153388	\N	\N	EFO	8	EFO	nervous system disease	Recessive mitochondrial ataxia syndrome
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94125	"" []	6153390	\N	\N	EFO	8	EFO	nervous system disease	Recessive mitochondrial ataxia syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94125	"" []	6153392	\N	\N	EFO	8	EFO	disease	Recessive mitochondrial ataxia syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94125	"" []	6634393	\N	\N	EFO	9	EFO	genetic disorder	Recessive mitochondrial ataxia syndrome
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94125	"" []	6634394	\N	\N	EFO	9	EFO	genetic disorder	Recessive mitochondrial ataxia syndrome
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:94125	"" []	6634395	\N	\N	EFO	9	EFO	metabolic disease	Recessive mitochondrial ataxia syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94125	"" []	7279101	\N	\N	EFO	13	EFO	experimental factor	Recessive mitochondrial ataxia syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94125	"" []	6634397	\N	\N	EFO	9	EFO	disease	Recessive mitochondrial ataxia syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94125	"" []	6926331	\N	\N	EFO	10	EFO	disease	Recessive mitochondrial ataxia syndrome
Orphanet:94145	\N	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	78663	\N	\N	EFO	0	EFO	Autosomal dominant cerebellar ataxia type 1	Autosomal dominant cerebellar ataxia type 1
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	223561	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia	Autosomal dominant cerebellar ataxia type 1
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	580191	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal dominant cerebellar ataxia type 1
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	580192	\N	\N	EFO	2	EFO	Late-onset ataxia with dementia	Autosomal dominant cerebellar ataxia type 1
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	580193	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal dominant cerebellar ataxia type 1
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	1164039	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia type 1
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	1164040	\N	\N	EFO	3	EFO	Ataxia with dementia	Autosomal dominant cerebellar ataxia type 1
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	1164041	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Autosomal dominant cerebellar ataxia type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	5419063	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant cerebellar ataxia type 1
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	2047852	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Autosomal dominant cerebellar ataxia type 1
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	2047853	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Autosomal dominant cerebellar ataxia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	5817912	\N	\N	EFO	8	EFO	disease	Autosomal dominant cerebellar ataxia type 1
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	3197899	\N	\N	EFO	5	EFO	Genetic dementia	Autosomal dominant cerebellar ataxia type 1
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	3197900	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Autosomal dominant cerebellar ataxia type 1
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	3197901	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal dominant cerebellar ataxia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	6410432	\N	\N	EFO	9	EFO	disposition	Autosomal dominant cerebellar ataxia type 1
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	4403272	\N	\N	EFO	6	EFO	brain disease	Autosomal dominant cerebellar ataxia type 1
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	4403273	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia type 1
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	4403274	\N	\N	EFO	6	EFO	neurodegenerative disease	Autosomal dominant cerebellar ataxia type 1
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	4403275	\N	\N	EFO	6	EFO	brain disease	Autosomal dominant cerebellar ataxia type 1
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	4403276	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	4403277	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant cerebellar ataxia type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	4403278	\N	\N	EFO	6	EFO	eye disease	Autosomal dominant cerebellar ataxia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	6808236	\N	\N	EFO	10	EFO	material property	Autosomal dominant cerebellar ataxia type 1
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	5419062	\N	\N	EFO	7	EFO	nervous system disease	Autosomal dominant cerebellar ataxia type 1
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	5419064	\N	\N	EFO	7	EFO	nervous system disease	Autosomal dominant cerebellar ataxia type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	5419066	\N	\N	EFO	7	EFO	disease	Autosomal dominant cerebellar ataxia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	7048854	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant cerebellar ataxia type 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94145	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	6153394	\N	\N	EFO	8	EFO	disease	Autosomal dominant cerebellar ataxia type 1
Orphanet:94147	\N	\N	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	78664	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 7	Spinocerebellar ataxia type 7
Orphanet:208508	Orphanet:94147	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	223562	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 2	Spinocerebellar ataxia type 7
Orphanet:99	Orphanet:208508	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	580194	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 7
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	1164042	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 7
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	1164043	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 7
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	1164044	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 7
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	2047854	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 7
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	2047855	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 7
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	2047856	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 7
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	6153397	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 7
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	3197903	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 7
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	3197904	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	6410433	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 7
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	4403280	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 7
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	4403281	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 7
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	4403282	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	6808237	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 7
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	5419068	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 7
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	5419069	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 7
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	5419070	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 7
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	5419071	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 7
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	5419072	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 7
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	5419073	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 7
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	5419074	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	7048855	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 7
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	6153396	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 7
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	6153398	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 7
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	6153400	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	7190265	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 7
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94147	"Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." []	6634399	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 7
Orphanet:94148	\N	\N	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	78665	\N	\N	EFO	0	EFO	Autosomal dominant cerebellar ataxia type 3	Autosomal dominant cerebellar ataxia type 3
Orphanet:99	Orphanet:94148	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	223563	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia	Autosomal dominant cerebellar ataxia type 3
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	580195	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal dominant cerebellar ataxia type 3
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	580196	\N	\N	EFO	2	EFO	Late-onset ataxia with dementia	Autosomal dominant cerebellar ataxia type 3
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	580197	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal dominant cerebellar ataxia type 3
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	1164045	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia type 3
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	1164046	\N	\N	EFO	3	EFO	Ataxia with dementia	Autosomal dominant cerebellar ataxia type 3
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	1164047	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Autosomal dominant cerebellar ataxia type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	5419077	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant cerebellar ataxia type 3
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	2047858	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Autosomal dominant cerebellar ataxia type 3
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	2047859	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Autosomal dominant cerebellar ataxia type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	5817913	\N	\N	EFO	8	EFO	disease	Autosomal dominant cerebellar ataxia type 3
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	3197906	\N	\N	EFO	5	EFO	Genetic dementia	Autosomal dominant cerebellar ataxia type 3
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	3197907	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Autosomal dominant cerebellar ataxia type 3
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	3197908	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal dominant cerebellar ataxia type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	6410434	\N	\N	EFO	9	EFO	disposition	Autosomal dominant cerebellar ataxia type 3
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	4403284	\N	\N	EFO	6	EFO	brain disease	Autosomal dominant cerebellar ataxia type 3
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	4403285	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia type 3
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	4403286	\N	\N	EFO	6	EFO	neurodegenerative disease	Autosomal dominant cerebellar ataxia type 3
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	4403287	\N	\N	EFO	6	EFO	brain disease	Autosomal dominant cerebellar ataxia type 3
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	4403288	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	4403289	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant cerebellar ataxia type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	4403290	\N	\N	EFO	6	EFO	eye disease	Autosomal dominant cerebellar ataxia type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	6808238	\N	\N	EFO	10	EFO	material property	Autosomal dominant cerebellar ataxia type 3
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	5419076	\N	\N	EFO	7	EFO	nervous system disease	Autosomal dominant cerebellar ataxia type 3
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	5419078	\N	\N	EFO	7	EFO	nervous system disease	Autosomal dominant cerebellar ataxia type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	5419080	\N	\N	EFO	7	EFO	disease	Autosomal dominant cerebellar ataxia type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	7048856	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant cerebellar ataxia type 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94148	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	6153402	\N	\N	EFO	8	EFO	disease	Autosomal dominant cerebellar ataxia type 3
Orphanet:94149	\N	\N	"" []	Orphanet:94149	"" []	78666	\N	\N	EFO	0	EFO	Autosomal dominant cerebellar ataxia type 4	Autosomal dominant cerebellar ataxia type 4
Orphanet:99	Orphanet:94149	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:94149	"" []	223564	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia	Autosomal dominant cerebellar ataxia type 4
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:94149	"" []	580198	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal dominant cerebellar ataxia type 4
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:94149	"" []	580199	\N	\N	EFO	2	EFO	Late-onset ataxia with dementia	Autosomal dominant cerebellar ataxia type 4
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:94149	"" []	580200	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal dominant cerebellar ataxia type 4
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:94149	"" []	1164048	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia type 4
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:94149	"" []	1164049	\N	\N	EFO	3	EFO	Ataxia with dementia	Autosomal dominant cerebellar ataxia type 4
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:94149	"" []	1164050	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Autosomal dominant cerebellar ataxia type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94149	"" []	5419083	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant cerebellar ataxia type 4
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:94149	"" []	2047861	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Autosomal dominant cerebellar ataxia type 4
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:94149	"" []	2047862	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Autosomal dominant cerebellar ataxia type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94149	"" []	5817914	\N	\N	EFO	8	EFO	disease	Autosomal dominant cerebellar ataxia type 4
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:94149	"" []	3197910	\N	\N	EFO	5	EFO	Genetic dementia	Autosomal dominant cerebellar ataxia type 4
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:94149	"" []	3197911	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Autosomal dominant cerebellar ataxia type 4
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:94149	"" []	3197912	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal dominant cerebellar ataxia type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94149	"" []	6410435	\N	\N	EFO	9	EFO	disposition	Autosomal dominant cerebellar ataxia type 4
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94149	"" []	4403292	\N	\N	EFO	6	EFO	brain disease	Autosomal dominant cerebellar ataxia type 4
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:94149	"" []	4403293	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia type 4
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:94149	"" []	4403294	\N	\N	EFO	6	EFO	neurodegenerative disease	Autosomal dominant cerebellar ataxia type 4
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:94149	"" []	4403295	\N	\N	EFO	6	EFO	brain disease	Autosomal dominant cerebellar ataxia type 4
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:94149	"" []	4403296	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia type 4
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94149	"" []	4403297	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant cerebellar ataxia type 4
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:94149	"" []	4403298	\N	\N	EFO	6	EFO	eye disease	Autosomal dominant cerebellar ataxia type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94149	"" []	6808239	\N	\N	EFO	10	EFO	material property	Autosomal dominant cerebellar ataxia type 4
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94149	"" []	5419082	\N	\N	EFO	7	EFO	nervous system disease	Autosomal dominant cerebellar ataxia type 4
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:94149	"" []	5419084	\N	\N	EFO	7	EFO	nervous system disease	Autosomal dominant cerebellar ataxia type 4
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94149	"" []	5419086	\N	\N	EFO	7	EFO	disease	Autosomal dominant cerebellar ataxia type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94149	"" []	7048857	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant cerebellar ataxia type 4
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94149	"" []	6153404	\N	\N	EFO	8	EFO	disease	Autosomal dominant cerebellar ataxia type 4
Orphanet:94150	\N	\N	"" []	Orphanet:94150	"" []	78667	\N	\N	EFO	0	EFO	Anonychia congenita totalis	Anonychia congenita totalis
Orphanet:79143	Orphanet:94150	\N	"" []	Orphanet:94150	"" []	223565	\N	\N	EFO	1	EFO	Congenital anonychia	Anonychia congenita totalis
Orphanet:139027	Orphanet:79143	\N	"" []	Orphanet:94150	"" []	580201	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Anonychia congenita totalis
Orphanet:79369	Orphanet:79143	\N	"" []	Orphanet:94150	"" []	580202	\N	\N	EFO	2	EFO	Isolated nail anomaly	Anonychia congenita totalis
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:94150	"" []	1164051	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Anonychia congenita totalis
Orphanet:183454	Orphanet:79369	\N	"" []	Orphanet:94150	"" []	1164052	\N	\N	EFO	3	EFO	Genetic nail anomaly	Anonychia congenita totalis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94150	"" []	2047863	\N	\N	EFO	4	EFO	genetic disorder	Anonychia congenita totalis
Orphanet:183447	Orphanet:183454	\N	"" []	Orphanet:94150	"" []	2047864	\N	\N	EFO	4	EFO	Genetic epidermal appendage anomaly	Anonychia congenita totalis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94150	"" []	5419088	\N	\N	EFO	7	EFO	disease	Anonychia congenita totalis
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:94150	"" []	3197914	\N	\N	EFO	5	EFO	Rare genetic skin disease	Anonychia congenita totalis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:94150	"" []	5877892	\N	\N	EFO	8	EFO	disposition	Anonychia congenita totalis
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:94150	"" []	4403300	\N	\N	EFO	6	EFO	genetic disorder	Anonychia congenita totalis
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:94150	"" []	4403301	\N	\N	EFO	6	EFO	skin disease	Anonychia congenita totalis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:94150	"" []	6471102	\N	\N	EFO	9	EFO	material property	Anonychia congenita totalis
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:94150	"" []	5419089	\N	\N	EFO	7	EFO	disease	Anonychia congenita totalis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:94150	"" []	6848903	\N	\N	EFO	10	EFO	experimental factor	Anonychia congenita totalis
Orphanet:943	\N	\N	"" []	Orphanet:943	"" []	78668	\N	\N	EFO	0	EFO	Malonic aciduria	Malonic aciduria
Orphanet:309133	Orphanet:943	\N	"" []	Orphanet:943	"" []	223566	\N	\N	EFO	1	EFO	Metabolic disease due to other fatty acid oxidation disorder	Malonic aciduria
Orphanet:79174	Orphanet:309133	\N	"" []	Orphanet:943	"" []	580203	\N	\N	EFO	2	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Malonic aciduria
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:943	"" []	1164053	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Malonic aciduria
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:943	"" []	2047865	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Malonic aciduria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:943	"" []	3197915	\N	\N	EFO	5	EFO	genetic disorder	Malonic aciduria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:943	"" []	3197916	\N	\N	EFO	5	EFO	metabolic disease	Malonic aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:943	"" []	4403302	\N	\N	EFO	6	EFO	disease	Malonic aciduria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:943	"" []	4403303	\N	\N	EFO	6	EFO	disease	Malonic aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:943	"" []	5419090	\N	\N	EFO	7	EFO	disposition	Malonic aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:943	"" []	6153406	\N	\N	EFO	8	EFO	material property	Malonic aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:943	"" []	6634400	\N	\N	EFO	9	EFO	experimental factor	Malonic aciduria
Orphanet:946	\N	\N	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	78669	\N	\N	EFO	0	EFO	Acrocephalosyndactyly	Acrocephalosyndactyly
Orphanet:139393	Orphanet:946	\N	"" []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	223567	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Acrocephalosyndactyly
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	580204	\N	\N	EFO	2	EFO	Craniosynostosis	Acrocephalosyndactyly
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	1164054	\N	\N	EFO	3	EFO	Genetic cranial malformation	Acrocephalosyndactyly
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	1164055	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Acrocephalosyndactyly
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	2047866	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acrocephalosyndactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	2047867	\N	\N	EFO	4	EFO	Rare genetic bone disease	Acrocephalosyndactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	2047868	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Acrocephalosyndactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	4403306	\N	\N	EFO	6	EFO	genetic disorder	Acrocephalosyndactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	3197918	\N	\N	EFO	5	EFO	genetic disorder	Acrocephalosyndactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	3197919	\N	\N	EFO	5	EFO	bone disease	Acrocephalosyndactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	3197920	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrocephalosyndactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	5183695	\N	\N	EFO	7	EFO	disease	Acrocephalosyndactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	4403305	\N	\N	EFO	6	EFO	skeletal system disease	Acrocephalosyndactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	5999023	\N	\N	EFO	8	EFO	disposition	Acrocephalosyndactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	5419092	\N	\N	EFO	7	EFO	disease	Acrocephalosyndactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	6552004	\N	\N	EFO	9	EFO	material property	Acrocephalosyndactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:946	"Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." []	6889619	\N	\N	EFO	10	EFO	experimental factor	Acrocephalosyndactyly
Orphanet:949	\N	\N	"" []	Orphanet:949	"" []	78670	\N	\N	EFO	0	EFO	Acrocraniofacial dysostosis	Acrocraniofacial dysostosis
Orphanet:330206	Orphanet:949	\N	"" []	Orphanet:949	"" []	223568	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Acrocraniofacial dysostosis
Orphanet:364574	Orphanet:949	\N	"" []	Orphanet:949	"" []	223569	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Acrocraniofacial dysostosis
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:949	"" []	580205	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Acrocraniofacial dysostosis
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:949	"" []	580206	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Acrocraniofacial dysostosis
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:949	"" []	580207	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Acrocraniofacial dysostosis
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:949	"" []	1164056	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acrocraniofacial dysostosis
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:949	"" []	1164057	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrocraniofacial dysostosis
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:949	"" []	1164058	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrocraniofacial dysostosis
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:949	"" []	1164059	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Acrocraniofacial dysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:949	"" []	5419095	\N	\N	EFO	7	EFO	genetic disorder	Acrocraniofacial dysostosis
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:949	"" []	2047870	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Acrocraniofacial dysostosis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:949	"" []	2047871	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Acrocraniofacial dysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:949	"" []	5817915	\N	\N	EFO	8	EFO	disease	Acrocraniofacial dysostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:949	"" []	3197922	\N	\N	EFO	5	EFO	Rare genetic bone disease	Acrocraniofacial dysostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:949	"" []	3197923	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Acrocraniofacial dysostosis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:949	"" []	3197924	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrocraniofacial dysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:949	"" []	6410436	\N	\N	EFO	9	EFO	disposition	Acrocraniofacial dysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:949	"" []	4403308	\N	\N	EFO	6	EFO	genetic disorder	Acrocraniofacial dysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:949	"" []	4403309	\N	\N	EFO	6	EFO	bone disease	Acrocraniofacial dysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:949	"" []	4403310	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acrocraniofacial dysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:949	"" []	6808240	\N	\N	EFO	10	EFO	material property	Acrocraniofacial dysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:949	"" []	5419094	\N	\N	EFO	7	EFO	skeletal system disease	Acrocraniofacial dysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:949	"" []	7048858	\N	\N	EFO	11	EFO	experimental factor	Acrocraniofacial dysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:949	"" []	6153409	\N	\N	EFO	8	EFO	disease	Acrocraniofacial dysostosis
Orphanet:95	\N	\N	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	78671	\N	\N	EFO	0	EFO	Friedreich ataxia	Friedreich ataxia
Orphanet:207028	Orphanet:95	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	223570	\N	\N	EFO	1	EFO	Cerebellar ataxia with peripheral neuropathy	Friedreich ataxia
Orphanet:68385	Orphanet:95	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	223571	\N	\N	EFO	1	EFO	Neurometabolic disease	Friedreich ataxia
Orphanet:98098	Orphanet:95	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	223572	\N	\N	EFO	1	EFO	Autosomal recessive degenerative and progressive cerebellar ataxia	Friedreich ataxia
Orphanet:98694	Orphanet:95	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	223573	\N	\N	EFO	1	EFO	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly	Friedreich ataxia
Orphanet:207025	Orphanet:207028	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	580208	\N	\N	EFO	2	EFO	Rare hereditary neurologic disease with peripheral neuropathy	Friedreich ataxia
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	580209	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Friedreich ataxia
Orphanet:1172	Orphanet:98098	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	580210	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Friedreich ataxia
Orphanet:98692	Orphanet:98694	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	580211	\N	\N	EFO	2	EFO	Nervous system anomaly with eye involvement	Friedreich ataxia
Orphanet:207015	Orphanet:207025	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	1164060	\N	\N	EFO	3	EFO	Rare hereditary disease with peripheral neuropathy	Friedreich ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	6153411	\N	\N	EFO	8	EFO	genetic disorder	Friedreich ataxia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	1164062	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Friedreich ataxia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	1164063	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Friedreich ataxia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	1164064	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Friedreich ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	3197929	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Friedreich ataxia
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	2047872	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Friedreich ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	6370842	\N	\N	EFO	9	EFO	disease	Friedreich ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	2047874	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Friedreich ataxia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	2047875	\N	\N	EFO	4	EFO	Ataxia with dementia	Friedreich ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	2047876	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Friedreich ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	4067020	\N	\N	EFO	6	EFO	Rare genetic eye disease	Friedreich ataxia
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	3197925	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Friedreich ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	6762408	\N	\N	EFO	10	EFO	disposition	Friedreich ataxia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	3197928	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Friedreich ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	5060348	\N	\N	EFO	7	EFO	genetic disorder	Friedreich ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	5060349	\N	\N	EFO	7	EFO	eye disease	Friedreich ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	7015721	\N	\N	EFO	11	EFO	material property	Friedreich ataxia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	4403314	\N	\N	EFO	6	EFO	Genetic dementia	Friedreich ataxia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	4403315	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Friedreich ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	5877896	\N	\N	EFO	8	EFO	disease	Friedreich ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	7173666	\N	\N	EFO	12	EFO	experimental factor	Friedreich ataxia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	5419097	\N	\N	EFO	7	EFO	brain disease	Friedreich ataxia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	5419098	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Friedreich ataxia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	5419099	\N	\N	EFO	7	EFO	neurodegenerative disease	Friedreich ataxia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	5419100	\N	\N	EFO	7	EFO	brain disease	Friedreich ataxia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	5419101	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Friedreich ataxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	6153410	\N	\N	EFO	8	EFO	nervous system disease	Friedreich ataxia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	6153412	\N	\N	EFO	8	EFO	nervous system disease	Friedreich ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95	"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." []	6634402	\N	\N	EFO	9	EFO	disease	Friedreich ataxia
Orphanet:950	\N	\N	"" []	Orphanet:950	"" []	78672	\N	\N	EFO	0	EFO	Acrodysostosis	Acrodysostosis
Orphanet:155899	Orphanet:950	\N	"" []	Orphanet:950	"" []	223574	\N	\N	EFO	1	EFO	Mandibulofacial dysostosis	Acrodysostosis
Orphanet:93436	Orphanet:950	\N	"" []	Orphanet:950	"" []	223575	\N	\N	EFO	1	EFO	Acromelic dysplasia	Acrodysostosis
Orphanet:155896	Orphanet:155899	\N	"" []	Orphanet:950	"" []	580212	\N	\N	EFO	2	EFO	Otomandibular dysplasia	Acrodysostosis
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:950	"" []	580213	\N	\N	EFO	2	EFO	Primary bone dysplasia	Acrodysostosis
Orphanet:96333	Orphanet:155896	\N	"" []	Orphanet:950	"" []	1164066	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Acrodysostosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:950	"" []	1164067	\N	\N	EFO	3	EFO	Rare genetic bone disease	Acrodysostosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:950	"" []	1164068	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Acrodysostosis
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:950	"" []	2047878	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Acrodysostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:950	"" []	2047879	\N	\N	EFO	4	EFO	genetic disorder	Acrodysostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:950	"" []	2047880	\N	\N	EFO	4	EFO	bone disease	Acrodysostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:950	"" []	2047881	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acrodysostosis
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:950	"" []	3197932	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrodysostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:950	"" []	5183697	\N	\N	EFO	7	EFO	disease	Acrodysostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:950	"" []	3197934	\N	\N	EFO	5	EFO	skeletal system disease	Acrodysostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:950	"" []	4403317	\N	\N	EFO	6	EFO	genetic disorder	Acrodysostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:950	"" []	5877897	\N	\N	EFO	8	EFO	disposition	Acrodysostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:950	"" []	4403319	\N	\N	EFO	6	EFO	disease	Acrodysostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:950	"" []	6471105	\N	\N	EFO	9	EFO	material property	Acrodysostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:950	"" []	6848905	\N	\N	EFO	10	EFO	experimental factor	Acrodysostosis
Orphanet:95157	\N	\N	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	78673	\N	\N	EFO	0	EFO	Acute hepatic porphyria	Acute hepatic porphyria
Orphanet:207018	Orphanet:95157	\N	"" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	223576	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Acute hepatic porphyria
Orphanet:738	Orphanet:95157	\N	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	223577	\N	\N	EFO	1	EFO	Porphyria	Acute hepatic porphyria
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	580214	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Acute hepatic porphyria
Orphanet:183490	Orphanet:738	\N	"" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	580215	\N	\N	EFO	2	EFO	Genetic photodermatosis	Acute hepatic porphyria
Orphanet:309813	Orphanet:738	\N	"" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	580216	\N	\N	EFO	2	EFO	Disorder of porphyrin and haem metabolism	Acute hepatic porphyria
Orphanet:79387	Orphanet:738	\N	"" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	580217	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Acute hepatic porphyria
Orphanet:93593	Orphanet:738	\N	"" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	580218	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Acute hepatic porphyria
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	1164069	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Acute hepatic porphyria
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	1164070	\N	\N	EFO	3	EFO	Rare genetic skin disease	Acute hepatic porphyria
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	1164071	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Acute hepatic porphyria
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	1164072	\N	\N	EFO	3	EFO	Rare genetic skin disease	Acute hepatic porphyria
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	1164073	\N	\N	EFO	3	EFO	Rare genetic renal disease	Acute hepatic porphyria
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	2047882	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Acute hepatic porphyria
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	2047883	\N	\N	EFO	4	EFO	genetic disorder	Acute hepatic porphyria
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	2047884	\N	\N	EFO	4	EFO	skin disease	Acute hepatic porphyria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	2047885	\N	\N	EFO	4	EFO	genetic disorder	Acute hepatic porphyria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	2047886	\N	\N	EFO	4	EFO	metabolic disease	Acute hepatic porphyria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	2047887	\N	\N	EFO	4	EFO	genetic disorder	Acute hepatic porphyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	3197936	\N	\N	EFO	5	EFO	genetic disorder	Acute hepatic porphyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	4403321	\N	\N	EFO	6	EFO	disease	Acute hepatic porphyria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	3197938	\N	\N	EFO	5	EFO	disease	Acute hepatic porphyria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	3197939	\N	\N	EFO	5	EFO	disease	Acute hepatic porphyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	5183698	\N	\N	EFO	7	EFO	disposition	Acute hepatic porphyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	5999025	\N	\N	EFO	8	EFO	material property	Acute hepatic porphyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95157	"Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms)." []	6552006	\N	\N	EFO	9	EFO	experimental factor	Acute hepatic porphyria
Orphanet:95159	\N	\N	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	78674	\N	\N	EFO	0	EFO	Hepatoerythropoietic porphyria	Hepatoerythropoietic porphyria
Orphanet:95161	Orphanet:95159	\N	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	223578	\N	\N	EFO	1	EFO	Chronic hepatic porphyria	Hepatoerythropoietic porphyria
Orphanet:738	Orphanet:95161	\N	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	580219	\N	\N	EFO	2	EFO	Porphyria	Hepatoerythropoietic porphyria
Orphanet:183490	Orphanet:738	\N	"" []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	1164074	\N	\N	EFO	3	EFO	Genetic photodermatosis	Hepatoerythropoietic porphyria
Orphanet:309813	Orphanet:738	\N	"" []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	1164075	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Hepatoerythropoietic porphyria
Orphanet:79387	Orphanet:738	\N	"" []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	1164076	\N	\N	EFO	3	EFO	Metabolic disease with skin involvement	Hepatoerythropoietic porphyria
Orphanet:93593	Orphanet:738	\N	"" []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	1164077	\N	\N	EFO	3	EFO	Nephropathy secondary to a storage or other metabolic disease	Hepatoerythropoietic porphyria
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	2047888	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hepatoerythropoietic porphyria
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	2047889	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hepatoerythropoietic porphyria
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	2047890	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hepatoerythropoietic porphyria
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	2047891	\N	\N	EFO	4	EFO	Rare genetic renal disease	Hepatoerythropoietic porphyria
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	3197940	\N	\N	EFO	5	EFO	genetic disorder	Hepatoerythropoietic porphyria
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	3197941	\N	\N	EFO	5	EFO	skin disease	Hepatoerythropoietic porphyria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	3197942	\N	\N	EFO	5	EFO	genetic disorder	Hepatoerythropoietic porphyria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	3197943	\N	\N	EFO	5	EFO	metabolic disease	Hepatoerythropoietic porphyria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	3197944	\N	\N	EFO	5	EFO	genetic disorder	Hepatoerythropoietic porphyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	4403323	\N	\N	EFO	6	EFO	disease	Hepatoerythropoietic porphyria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	4403324	\N	\N	EFO	6	EFO	disease	Hepatoerythropoietic porphyria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	4403325	\N	\N	EFO	6	EFO	disease	Hepatoerythropoietic porphyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	5419104	\N	\N	EFO	7	EFO	disposition	Hepatoerythropoietic porphyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	6153415	\N	\N	EFO	8	EFO	material property	Hepatoerythropoietic porphyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95159	"Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." []	6634403	\N	\N	EFO	9	EFO	experimental factor	Hepatoerythropoietic porphyria
Orphanet:95161	\N	\N	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	78675	\N	\N	EFO	0	EFO	Chronic hepatic porphyria	Chronic hepatic porphyria
Orphanet:738	Orphanet:95161	\N	"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	223579	\N	\N	EFO	1	EFO	Porphyria	Chronic hepatic porphyria
Orphanet:183490	Orphanet:738	\N	"" []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	580220	\N	\N	EFO	2	EFO	Genetic photodermatosis	Chronic hepatic porphyria
Orphanet:309813	Orphanet:738	\N	"" []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	580221	\N	\N	EFO	2	EFO	Disorder of porphyrin and haem metabolism	Chronic hepatic porphyria
Orphanet:79387	Orphanet:738	\N	"" []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	580222	\N	\N	EFO	2	EFO	Metabolic disease with skin involvement	Chronic hepatic porphyria
Orphanet:93593	Orphanet:738	\N	"" []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	580223	\N	\N	EFO	2	EFO	Nephropathy secondary to a storage or other metabolic disease	Chronic hepatic porphyria
Orphanet:68346	Orphanet:183490	\N	"" []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	1164078	\N	\N	EFO	3	EFO	Rare genetic skin disease	Chronic hepatic porphyria
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	1164079	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Chronic hepatic porphyria
Orphanet:68346	Orphanet:79387	\N	"" []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	1164080	\N	\N	EFO	3	EFO	Rare genetic skin disease	Chronic hepatic porphyria
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	1164081	\N	\N	EFO	3	EFO	Rare genetic renal disease	Chronic hepatic porphyria
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	2047892	\N	\N	EFO	4	EFO	genetic disorder	Chronic hepatic porphyria
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	2047893	\N	\N	EFO	4	EFO	skin disease	Chronic hepatic porphyria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	2047894	\N	\N	EFO	4	EFO	genetic disorder	Chronic hepatic porphyria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	2047895	\N	\N	EFO	4	EFO	metabolic disease	Chronic hepatic porphyria
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	2047896	\N	\N	EFO	4	EFO	genetic disorder	Chronic hepatic porphyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	3197945	\N	\N	EFO	5	EFO	disease	Chronic hepatic porphyria
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	3197946	\N	\N	EFO	5	EFO	disease	Chronic hepatic porphyria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	3197947	\N	\N	EFO	5	EFO	disease	Chronic hepatic porphyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	4403326	\N	\N	EFO	6	EFO	disposition	Chronic hepatic porphyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	5419105	\N	\N	EFO	7	EFO	material property	Chronic hepatic porphyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95161	"Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." []	6153416	\N	\N	EFO	8	EFO	experimental factor	Chronic hepatic porphyria
Orphanet:952	\N	\N	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	78676	\N	\N	EFO	0	EFO	Acrofacial dysostosis, Weyers type	Acrofacial dysostosis, Weyers type
Orphanet:183576	Orphanet:952	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	223580	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Acrofacial dysostosis, Weyers type
Orphanet:330206	Orphanet:952	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	223581	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Acrofacial dysostosis, Weyers type
Orphanet:364574	Orphanet:952	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	223582	\N	\N	EFO	1	EFO	Acrofacial dysostosis	Acrofacial dysostosis, Weyers type
Orphanet:79373	Orphanet:952	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	223583	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Acrofacial dysostosis, Weyers type
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	580224	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Weyers type
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	580225	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Acrofacial dysostosis, Weyers type
Orphanet:364571	Orphanet:364574	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	580226	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Acrofacial dysostosis, Weyers type
Orphanet:69028	Orphanet:364574	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	580227	\N	\N	EFO	2	EFO	Syndrome with brachydactyly	Acrofacial dysostosis, Weyers type
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	580228	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Acrofacial dysostosis, Weyers type
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	580229	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Acrofacial dysostosis, Weyers type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	5419108	\N	\N	EFO	7	EFO	genetic disorder	Acrofacial dysostosis, Weyers type
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	1164083	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Weyers type
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	1164084	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrofacial dysostosis, Weyers type
Orphanet:404571	Orphanet:69028	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	1164085	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acrofacial dysostosis, Weyers type
Orphanet:404577	Orphanet:69028	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	1164086	\N	\N	EFO	3	EFO	Genetic syndrome with limb malformations as a major feature	Acrofacial dysostosis, Weyers type
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	1164087	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Weyers type
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	1164088	\N	\N	EFO	3	EFO	Rare genetic skin disease	Acrofacial dysostosis, Weyers type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	5801898	\N	\N	EFO	8	EFO	disease	Acrofacial dysostosis, Weyers type
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	2047899	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Acrofacial dysostosis, Weyers type
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	2047900	\N	\N	EFO	4	EFO	Genetic congenital limb malformation	Acrofacial dysostosis, Weyers type
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	2047901	\N	\N	EFO	4	EFO	genetic disorder	Acrofacial dysostosis, Weyers type
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	2047902	\N	\N	EFO	4	EFO	skin disease	Acrofacial dysostosis, Weyers type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	6379020	\N	\N	EFO	9	EFO	disposition	Acrofacial dysostosis, Weyers type
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	3197949	\N	\N	EFO	5	EFO	Rare genetic bone disease	Acrofacial dysostosis, Weyers type
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	3197950	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Acrofacial dysostosis, Weyers type
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	3197951	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Weyers type
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	3197952	\N	\N	EFO	5	EFO	disease	Acrofacial dysostosis, Weyers type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	6778860	\N	\N	EFO	10	EFO	material property	Acrofacial dysostosis, Weyers type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	4403328	\N	\N	EFO	6	EFO	genetic disorder	Acrofacial dysostosis, Weyers type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	4403329	\N	\N	EFO	6	EFO	bone disease	Acrofacial dysostosis, Weyers type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	4403330	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Acrofacial dysostosis, Weyers type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	7030047	\N	\N	EFO	11	EFO	experimental factor	Acrofacial dysostosis, Weyers type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	5419107	\N	\N	EFO	7	EFO	skeletal system disease	Acrofacial dysostosis, Weyers type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:952	"Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." []	6153417	\N	\N	EFO	8	EFO	disease	Acrofacial dysostosis, Weyers type
Orphanet:95232	\N	\N	"" []	Orphanet:95232	"" []	78677	\N	\N	EFO	0	EFO	Lissencephaly due to LIS1 mutation	Lissencephaly due to LIS1 mutation
Orphanet:102009	Orphanet:95232	\N	"" []	Orphanet:95232	"" []	223584	\N	\N	EFO	1	EFO	Classic lissencephaly	Lissencephaly due to LIS1 mutation
Orphanet:48471	Orphanet:102009	\N	"" []	Orphanet:95232	"" []	580230	\N	\N	EFO	2	EFO	Lissencephaly	Lissencephaly due to LIS1 mutation
Orphanet:166478	Orphanet:48471	\N	"" []	Orphanet:95232	"" []	1164089	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Lissencephaly due to LIS1 mutation
Orphanet:183763	Orphanet:48471	\N	"" []	Orphanet:95232	"" []	1164090	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Lissencephaly due to LIS1 mutation
Orphanet:269564	Orphanet:48471	\N	"" []	Orphanet:95232	"" []	1164091	\N	\N	EFO	3	EFO	Genetic syndrome with a central nervous system malformation as major feature	Lissencephaly due to LIS1 mutation
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:95232	"" []	2047903	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Lissencephaly due to LIS1 mutation
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:95232	"" []	2047904	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Lissencephaly due to LIS1 mutation
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:95232	"" []	2047905	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Lissencephaly due to LIS1 mutation
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:95232	"" []	3197953	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly due to LIS1 mutation
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:95232	"" []	3197954	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly due to LIS1 mutation
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:95232	"" []	3197955	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Lissencephaly due to LIS1 mutation
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:95232	"" []	3197956	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Lissencephaly due to LIS1 mutation
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95232	"" []	4403332	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly due to LIS1 mutation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95232	"" []	4403333	\N	\N	EFO	6	EFO	genetic disorder	Lissencephaly due to LIS1 mutation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95232	"" []	5419109	\N	\N	EFO	7	EFO	disease	Lissencephaly due to LIS1 mutation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95232	"" []	6153418	\N	\N	EFO	8	EFO	disposition	Lissencephaly due to LIS1 mutation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95232	"" []	6634404	\N	\N	EFO	9	EFO	material property	Lissencephaly due to LIS1 mutation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95232	"" []	6926332	\N	\N	EFO	10	EFO	experimental factor	Lissencephaly due to LIS1 mutation
Orphanet:95428	\N	\N	"" []	Orphanet:95428	"" []	78678	\N	\N	EFO	0	EFO	COG8-CDG	COG8-CDG
Orphanet:309568	Orphanet:95428	\N	"" []	Orphanet:95428	"" []	223585	\N	\N	EFO	1	EFO	Defect in conserved oligomeric Golgi complex	COG8-CDG
Orphanet:371064	Orphanet:95428	\N	"" []	Orphanet:95428	"" []	223586	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	COG8-CDG
Orphanet:371071	Orphanet:95428	\N	"" []	Orphanet:95428	"" []	223587	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	COG8-CDG
Orphanet:309526	Orphanet:309568	\N	"" []	Orphanet:95428	"" []	580231	\N	\N	EFO	2	EFO	Disorder of multiple glycosylation	COG8-CDG
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:95428	"" []	580232	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	COG8-CDG
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:95428	"" []	580233	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	COG8-CDG
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:95428	"" []	580234	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	COG8-CDG
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:95428	"" []	1164092	\N	\N	EFO	3	EFO	Congenital disorder of glycosylation	COG8-CDG
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:95428	"" []	1164093	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	COG8-CDG
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:95428	"" []	1164094	\N	\N	EFO	3	EFO	Neurometabolic disease	COG8-CDG
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:95428	"" []	2047906	\N	\N	EFO	4	EFO	Inborn errors of metabolism	COG8-CDG
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:95428	"" []	2047907	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	COG8-CDG
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:95428	"" []	2047908	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	COG8-CDG
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95428	"" []	3197957	\N	\N	EFO	5	EFO	genetic disorder	COG8-CDG
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:95428	"" []	3197958	\N	\N	EFO	5	EFO	metabolic disease	COG8-CDG
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:95428	"" []	3197959	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	COG8-CDG
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95428	"" []	4403336	\N	\N	EFO	6	EFO	genetic disorder	COG8-CDG
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95428	"" []	5183700	\N	\N	EFO	7	EFO	disease	COG8-CDG
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95428	"" []	4403335	\N	\N	EFO	6	EFO	disease	COG8-CDG
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95428	"" []	5999027	\N	\N	EFO	8	EFO	disposition	COG8-CDG
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95428	"" []	6552007	\N	\N	EFO	9	EFO	material property	COG8-CDG
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95428	"" []	6889620	\N	\N	EFO	10	EFO	experimental factor	COG8-CDG
Orphanet:95429	\N	\N	"" []	Orphanet:95429	"" []	78679	\N	\N	EFO	0	EFO	Angioma serpiginosum	Angioma serpiginosum
Orphanet:183478	Orphanet:95429	\N	"" []	Orphanet:95429	"" []	223588	\N	\N	EFO	1	EFO	Genetic skin vascular disorder	Angioma serpiginosum
Orphanet:183472	Orphanet:183478	\N	"" []	Orphanet:95429	"" []	580235	\N	\N	EFO	2	EFO	Genetic dermis disorder	Angioma serpiginosum
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:95429	"" []	1164095	\N	\N	EFO	3	EFO	Rare genetic skin disease	Angioma serpiginosum
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95429	"" []	2047909	\N	\N	EFO	4	EFO	genetic disorder	Angioma serpiginosum
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:95429	"" []	2047910	\N	\N	EFO	4	EFO	skin disease	Angioma serpiginosum
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95429	"" []	3197961	\N	\N	EFO	5	EFO	disease	Angioma serpiginosum
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95429	"" []	3197962	\N	\N	EFO	5	EFO	disease	Angioma serpiginosum
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95429	"" []	4403337	\N	\N	EFO	6	EFO	disposition	Angioma serpiginosum
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95429	"" []	5419111	\N	\N	EFO	7	EFO	material property	Angioma serpiginosum
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95429	"" []	6153420	\N	\N	EFO	8	EFO	experimental factor	Angioma serpiginosum
Orphanet:95430	\N	\N	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	78680	\N	\N	EFO	0	EFO	Congenital tracheomalacia	Congenital tracheomalacia
Orphanet:108993	Orphanet:95430	\N	"" []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	223589	\N	\N	EFO	1	EFO	Non-syndromic respiratory or mediastinal malformation	Congenital tracheomalacia
Orphanet:156252	Orphanet:95430	\N	"" []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	223590	\N	\N	EFO	1	EFO	Tracheal anomaly	Congenital tracheomalacia
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	580236	\N	\N	EFO	2	EFO	Genetic respiratory or mediastinal malformation	Congenital tracheomalacia
Orphanet:96333	Orphanet:156252	\N	"" []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	580237	\N	\N	EFO	2	EFO	Rare otorhinolaryngological malformation	Congenital tracheomalacia
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	1164096	\N	\N	EFO	3	EFO	respiratory system disease	Congenital tracheomalacia
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	1164097	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenital tracheomalacia
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	1164098	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Congenital tracheomalacia
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	2047911	\N	\N	EFO	4	EFO	disease	Congenital tracheomalacia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	3197965	\N	\N	EFO	5	EFO	genetic disorder	Congenital tracheomalacia
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	2047913	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital tracheomalacia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	5183702	\N	\N	EFO	7	EFO	disposition	Congenital tracheomalacia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	4134535	\N	\N	EFO	6	EFO	disease	Congenital tracheomalacia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	5877898	\N	\N	EFO	8	EFO	material property	Congenital tracheomalacia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95430	"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." []	6471106	\N	\N	EFO	9	EFO	experimental factor	Congenital tracheomalacia
Orphanet:95433	\N	\N	"" []	Orphanet:95433	"" []	78681	\N	\N	EFO	0	EFO	Autosomal recessive cerebellar ataxia - blindness - deafness	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:98099	Orphanet:95433	\N	"" []	Orphanet:95433	"" []	223591	\N	\N	EFO	1	EFO	Autosomal recessive syndromic cerebellar ataxia	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:1172	Orphanet:98099	\N	"" []	Orphanet:95433	"" []	580238	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:95433	"" []	1164099	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:95433	"" []	1164100	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:95433	"" []	1164101	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:95433	"" []	2047914	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:95433	"" []	2047915	\N	\N	EFO	4	EFO	Ataxia with dementia	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:95433	"" []	2047916	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Autosomal recessive cerebellar ataxia - blindness - deafness
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95433	"" []	6153423	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:95433	"" []	3197967	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:95433	"" []	3197968	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive cerebellar ataxia - blindness - deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95433	"" []	6410439	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:95433	"" []	4403341	\N	\N	EFO	6	EFO	Genetic dementia	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:95433	"" []	4403342	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:95433	"" []	4403343	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive cerebellar ataxia - blindness - deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95433	"" []	6808243	\N	\N	EFO	10	EFO	disposition	Autosomal recessive cerebellar ataxia - blindness - deafness
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:95433	"" []	5419114	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:95433	"" []	5419115	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia - blindness - deafness
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:95433	"" []	5419116	\N	\N	EFO	7	EFO	neurodegenerative disease	Autosomal recessive cerebellar ataxia - blindness - deafness
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:95433	"" []	5419117	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:95433	"" []	5419118	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia - blindness - deafness
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95433	"" []	5419119	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cerebellar ataxia - blindness - deafness
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:95433	"" []	5419120	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive cerebellar ataxia - blindness - deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95433	"" []	7048859	\N	\N	EFO	11	EFO	material property	Autosomal recessive cerebellar ataxia - blindness - deafness
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:95433	"" []	6153422	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia - blindness - deafness
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:95433	"" []	6153424	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia - blindness - deafness
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95433	"" []	6153426	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebellar ataxia - blindness - deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95433	"" []	7190266	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive cerebellar ataxia - blindness - deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95433	"" []	6634407	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia - blindness - deafness
Orphanet:95434	\N	\N	"" []	Orphanet:95434	"" []	78682	\N	\N	EFO	0	EFO	Autosomal recessive cerebellar ataxia - saccadic intrusion	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:98099	Orphanet:95434	\N	"" []	Orphanet:95434	"" []	223592	\N	\N	EFO	1	EFO	Autosomal recessive syndromic cerebellar ataxia	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:1172	Orphanet:98099	\N	"" []	Orphanet:95434	"" []	580239	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:95434	"" []	1164102	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:95434	"" []	1164103	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:95434	"" []	1164104	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:95434	"" []	2047917	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:95434	"" []	2047918	\N	\N	EFO	4	EFO	Ataxia with dementia	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:95434	"" []	2047919	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Autosomal recessive cerebellar ataxia - saccadic intrusion
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95434	"" []	6153429	\N	\N	EFO	8	EFO	genetic disorder	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:95434	"" []	3197970	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:95434	"" []	3197971	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive cerebellar ataxia - saccadic intrusion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95434	"" []	6410440	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:95434	"" []	4403345	\N	\N	EFO	6	EFO	Genetic dementia	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:95434	"" []	4403346	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:95434	"" []	4403347	\N	\N	EFO	6	EFO	Rare genetic eye disease	Autosomal recessive cerebellar ataxia - saccadic intrusion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95434	"" []	6808244	\N	\N	EFO	10	EFO	disposition	Autosomal recessive cerebellar ataxia - saccadic intrusion
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:95434	"" []	5419122	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:95434	"" []	5419123	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia - saccadic intrusion
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:95434	"" []	5419124	\N	\N	EFO	7	EFO	neurodegenerative disease	Autosomal recessive cerebellar ataxia - saccadic intrusion
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:95434	"" []	5419125	\N	\N	EFO	7	EFO	brain disease	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:95434	"" []	5419126	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia - saccadic intrusion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95434	"" []	5419127	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cerebellar ataxia - saccadic intrusion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:95434	"" []	5419128	\N	\N	EFO	7	EFO	eye disease	Autosomal recessive cerebellar ataxia - saccadic intrusion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95434	"" []	7048860	\N	\N	EFO	11	EFO	material property	Autosomal recessive cerebellar ataxia - saccadic intrusion
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:95434	"" []	6153428	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia - saccadic intrusion
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:95434	"" []	6153430	\N	\N	EFO	8	EFO	nervous system disease	Autosomal recessive cerebellar ataxia - saccadic intrusion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95434	"" []	6153432	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebellar ataxia - saccadic intrusion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95434	"" []	7190267	\N	\N	EFO	12	EFO	experimental factor	Autosomal recessive cerebellar ataxia - saccadic intrusion
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95434	"" []	6634409	\N	\N	EFO	9	EFO	disease	Autosomal recessive cerebellar ataxia - saccadic intrusion
Orphanet:95488	\N	\N	"" []	Orphanet:95488	"" []	78683	\N	\N	EFO	0	EFO	Non-acquired pituitary hormone deficiency	Non-acquired pituitary hormone deficiency
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:95488	"" []	223593	\N	\N	EFO	1	EFO	Pituitary deficiency	Non-acquired pituitary hormone deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:95488	"" []	580240	\N	\N	EFO	2	EFO	Rare genetic hypothalamic or pituitary disease	Non-acquired pituitary hormone deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:95488	"" []	1164105	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Non-acquired pituitary hormone deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95488	"" []	2047920	\N	\N	EFO	4	EFO	genetic disorder	Non-acquired pituitary hormone deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95488	"" []	2047921	\N	\N	EFO	4	EFO	endocrine system disease	Non-acquired pituitary hormone deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95488	"" []	3197972	\N	\N	EFO	5	EFO	disease	Non-acquired pituitary hormone deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95488	"" []	3197973	\N	\N	EFO	5	EFO	disease	Non-acquired pituitary hormone deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95488	"" []	4403348	\N	\N	EFO	6	EFO	disposition	Non-acquired pituitary hormone deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95488	"" []	5419129	\N	\N	EFO	7	EFO	material property	Non-acquired pituitary hormone deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95488	"" []	6153433	\N	\N	EFO	8	EFO	experimental factor	Non-acquired pituitary hormone deficiency
Orphanet:95494	\N	\N	"" []	Orphanet:95494	"" []	78684	\N	\N	EFO	0	EFO	Combined pituitary hormone deficiencies, genetic forms	Combined pituitary hormone deficiencies, genetic forms
Orphanet:178025	Orphanet:95494	\N	"" []	Orphanet:95494	"" []	223594	\N	\N	EFO	1	EFO	Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations	Combined pituitary hormone deficiencies, genetic forms
Orphanet:181390	Orphanet:95494	\N	"" []	Orphanet:95494	"" []	223595	\N	\N	EFO	1	EFO	Hypogonadotropic hypogonadism associated with other endocrinopathies	Combined pituitary hormone deficiencies, genetic forms
Orphanet:467	Orphanet:178025	\N	"" []	Orphanet:95494	"" []	580241	\N	\N	EFO	2	EFO	Non-acquired combined pituitary hormone deficiency	Combined pituitary hormone deficiencies, genetic forms
Orphanet:174590	Orphanet:181390	\N	"" []	Orphanet:95494	"" []	580242	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Combined pituitary hormone deficiencies, genetic forms
Orphanet:399839	Orphanet:181390	\N	"" []	Orphanet:95494	"" []	580243	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Combined pituitary hormone deficiencies, genetic forms
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:95494	"" []	1164106	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Combined pituitary hormone deficiencies, genetic forms
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:95494	"" []	1164107	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Combined pituitary hormone deficiencies, genetic forms
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:95494	"" []	1164108	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Combined pituitary hormone deficiencies, genetic forms
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:95494	"" []	1164109	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Combined pituitary hormone deficiencies, genetic forms
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:95494	"" []	1164110	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Combined pituitary hormone deficiencies, genetic forms
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:95494	"" []	2047922	\N	\N	EFO	4	EFO	Pituitary deficiency	Combined pituitary hormone deficiencies, genetic forms
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:95494	"" []	2047923	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Combined pituitary hormone deficiencies, genetic forms
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:95494	"" []	2047924	\N	\N	EFO	4	EFO	Rare genetic male infertility	Combined pituitary hormone deficiencies, genetic forms
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:95494	"" []	2047925	\N	\N	EFO	4	EFO	Rare genetic female infertility	Combined pituitary hormone deficiencies, genetic forms
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:95494	"" []	3197974	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Combined pituitary hormone deficiencies, genetic forms
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95494	"" []	3197975	\N	\N	EFO	5	EFO	genetic disorder	Combined pituitary hormone deficiencies, genetic forms
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:95494	"" []	3197976	\N	\N	EFO	5	EFO	reproductive system disease	Combined pituitary hormone deficiencies, genetic forms
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:95494	"" []	3197977	\N	\N	EFO	5	EFO	Genetic infertility	Combined pituitary hormone deficiencies, genetic forms
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:95494	"" []	3197978	\N	\N	EFO	5	EFO	Genetic infertility	Combined pituitary hormone deficiencies, genetic forms
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:95494	"" []	4403349	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Combined pituitary hormone deficiencies, genetic forms
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95494	"" []	6153434	\N	\N	EFO	8	EFO	disease	Combined pituitary hormone deficiencies, genetic forms
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95494	"" []	5419134	\N	\N	EFO	7	EFO	disease	Combined pituitary hormone deficiencies, genetic forms
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95494	"" []	4403352	\N	\N	EFO	6	EFO	genetic disorder	Combined pituitary hormone deficiencies, genetic forms
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:95494	"" []	4403353	\N	\N	EFO	6	EFO	reproductive system disease	Combined pituitary hormone deficiencies, genetic forms
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95494	"" []	5419130	\N	\N	EFO	7	EFO	genetic disorder	Combined pituitary hormone deficiencies, genetic forms
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95494	"" []	5419131	\N	\N	EFO	7	EFO	endocrine system disease	Combined pituitary hormone deficiencies, genetic forms
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95494	"" []	6471109	\N	\N	EFO	9	EFO	disposition	Combined pituitary hormone deficiencies, genetic forms
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95494	"" []	6153435	\N	\N	EFO	8	EFO	disease	Combined pituitary hormone deficiencies, genetic forms
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95494	"" []	6848908	\N	\N	EFO	10	EFO	material property	Combined pituitary hormone deficiencies, genetic forms
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95494	"" []	7068556	\N	\N	EFO	11	EFO	experimental factor	Combined pituitary hormone deficiencies, genetic forms
Orphanet:95495	\N	\N	"" []	Orphanet:95495	"" []	78685	\N	\N	EFO	0	EFO	Disease associated with non-acquired combined pituitary hormone deficiency	Disease associated with non-acquired combined pituitary hormone deficiency
Orphanet:467	Orphanet:95495	\N	"" []	Orphanet:95495	"" []	223596	\N	\N	EFO	1	EFO	Non-acquired combined pituitary hormone deficiency	Disease associated with non-acquired combined pituitary hormone deficiency
Orphanet:95488	Orphanet:467	\N	"" []	Orphanet:95495	"" []	580244	\N	\N	EFO	2	EFO	Non-acquired pituitary hormone deficiency	Disease associated with non-acquired combined pituitary hormone deficiency
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:95495	"" []	1164111	\N	\N	EFO	3	EFO	Pituitary deficiency	Disease associated with non-acquired combined pituitary hormone deficiency
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:95495	"" []	2047926	\N	\N	EFO	4	EFO	Rare genetic hypothalamic or pituitary disease	Disease associated with non-acquired combined pituitary hormone deficiency
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:95495	"" []	3197979	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Disease associated with non-acquired combined pituitary hormone deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95495	"" []	4403354	\N	\N	EFO	6	EFO	genetic disorder	Disease associated with non-acquired combined pituitary hormone deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95495	"" []	4403355	\N	\N	EFO	6	EFO	endocrine system disease	Disease associated with non-acquired combined pituitary hormone deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95495	"" []	5419135	\N	\N	EFO	7	EFO	disease	Disease associated with non-acquired combined pituitary hormone deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95495	"" []	5419136	\N	\N	EFO	7	EFO	disease	Disease associated with non-acquired combined pituitary hormone deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95495	"" []	6153437	\N	\N	EFO	8	EFO	disposition	Disease associated with non-acquired combined pituitary hormone deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95495	"" []	6634411	\N	\N	EFO	9	EFO	material property	Disease associated with non-acquired combined pituitary hormone deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95495	"" []	6926333	\N	\N	EFO	10	EFO	experimental factor	Disease associated with non-acquired combined pituitary hormone deficiency
Orphanet:95496	\N	\N	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	Orphanet:95496	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	78686	\N	\N	EFO	0	EFO	Pituitary stalk interruption syndrome	Pituitary stalk interruption syndrome
Orphanet:95488	Orphanet:95496	\N	"" []	Orphanet:95496	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	223597	\N	\N	EFO	1	EFO	Non-acquired pituitary hormone deficiency	Pituitary stalk interruption syndrome
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:95496	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	580245	\N	\N	EFO	2	EFO	Pituitary deficiency	Pituitary stalk interruption syndrome
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:95496	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	1164112	\N	\N	EFO	3	EFO	Rare genetic hypothalamic or pituitary disease	Pituitary stalk interruption syndrome
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:95496	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	2047927	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Pituitary stalk interruption syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95496	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	3197980	\N	\N	EFO	5	EFO	genetic disorder	Pituitary stalk interruption syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95496	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	3197981	\N	\N	EFO	5	EFO	endocrine system disease	Pituitary stalk interruption syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95496	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	4403356	\N	\N	EFO	6	EFO	disease	Pituitary stalk interruption syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95496	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	4403357	\N	\N	EFO	6	EFO	disease	Pituitary stalk interruption syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95496	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	5419137	\N	\N	EFO	7	EFO	disposition	Pituitary stalk interruption syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95496	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	6153438	\N	\N	EFO	8	EFO	material property	Pituitary stalk interruption syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95496	"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." []	6634412	\N	\N	EFO	9	EFO	experimental factor	Pituitary stalk interruption syndrome
Orphanet:955	\N	\N	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	78687	\N	\N	EFO	0	EFO	Acroosteolysis dominant type	Acroosteolysis dominant type
Orphanet:93449	Orphanet:955	\N	"" []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	223598	\N	\N	EFO	1	EFO	Primary osteolysis	Acroosteolysis dominant type
Orphanet:93547	Orphanet:955	\N	"" []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	223599	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Acroosteolysis dominant type
Orphanet:364526	Orphanet:93449	\N	"" []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	580246	\N	\N	EFO	2	EFO	Primary bone dysplasia	Acroosteolysis dominant type
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	580247	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Acroosteolysis dominant type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	1164113	\N	\N	EFO	3	EFO	Rare genetic bone disease	Acroosteolysis dominant type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	1164114	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Acroosteolysis dominant type
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	1164115	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acroosteolysis dominant type
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	1164116	\N	\N	EFO	3	EFO	Rare genetic renal disease	Acroosteolysis dominant type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	2047928	\N	\N	EFO	4	EFO	genetic disorder	Acroosteolysis dominant type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	2047929	\N	\N	EFO	4	EFO	bone disease	Acroosteolysis dominant type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	2047930	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acroosteolysis dominant type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	3197984	\N	\N	EFO	5	EFO	genetic disorder	Acroosteolysis dominant type
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	2047932	\N	\N	EFO	4	EFO	genetic disorder	Acroosteolysis dominant type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	4134536	\N	\N	EFO	6	EFO	disease	Acroosteolysis dominant type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	3197983	\N	\N	EFO	5	EFO	skeletal system disease	Acroosteolysis dominant type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	5183703	\N	\N	EFO	7	EFO	disposition	Acroosteolysis dominant type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	4403359	\N	\N	EFO	6	EFO	disease	Acroosteolysis dominant type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	5999030	\N	\N	EFO	8	EFO	material property	Acroosteolysis dominant type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:955	"Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." []	6552009	\N	\N	EFO	9	EFO	experimental factor	Acroosteolysis dominant type
Orphanet:956	\N	\N	"" []	Orphanet:956	"" []	78688	\N	\N	EFO	0	EFO	Acro-pectoro-renal dysplasia	Acro-pectoro-renal dysplasia
Orphanet:294959	Orphanet:956	\N	"" []	Orphanet:956	"" []	223600	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Acro-pectoro-renal dysplasia
Orphanet:93547	Orphanet:956	\N	"" []	Orphanet:956	"" []	223601	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Acro-pectoro-renal dysplasia
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:956	"" []	580248	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acro-pectoro-renal dysplasia
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:956	"" []	580249	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Acro-pectoro-renal dysplasia
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:956	"" []	580250	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Acro-pectoro-renal dysplasia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:956	"" []	1164117	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Acro-pectoro-renal dysplasia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:956	"" []	1164118	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Acro-pectoro-renal dysplasia
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:956	"" []	1164119	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acro-pectoro-renal dysplasia
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:956	"" []	1164120	\N	\N	EFO	3	EFO	Rare genetic renal disease	Acro-pectoro-renal dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:956	"" []	2047933	\N	\N	EFO	4	EFO	Rare genetic bone disease	Acro-pectoro-renal dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:956	"" []	2047934	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Acro-pectoro-renal dysplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:956	"" []	2047935	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acro-pectoro-renal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:956	"" []	4403361	\N	\N	EFO	6	EFO	genetic disorder	Acro-pectoro-renal dysplasia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:956	"" []	2047937	\N	\N	EFO	4	EFO	genetic disorder	Acro-pectoro-renal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:956	"" []	3197985	\N	\N	EFO	5	EFO	genetic disorder	Acro-pectoro-renal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:956	"" []	3197986	\N	\N	EFO	5	EFO	bone disease	Acro-pectoro-renal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:956	"" []	3197987	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acro-pectoro-renal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:956	"" []	5060350	\N	\N	EFO	7	EFO	disease	Acro-pectoro-renal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:956	"" []	4403360	\N	\N	EFO	6	EFO	skeletal system disease	Acro-pectoro-renal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:956	"" []	5877899	\N	\N	EFO	8	EFO	disposition	Acro-pectoro-renal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:956	"" []	5419139	\N	\N	EFO	7	EFO	disease	Acro-pectoro-renal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:956	"" []	6471110	\N	\N	EFO	9	EFO	material property	Acro-pectoro-renal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:956	"" []	6848909	\N	\N	EFO	10	EFO	experimental factor	Acro-pectoro-renal dysplasia
Orphanet:95699	\N	\N	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	78689	\N	\N	EFO	0	EFO	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:139393	Orphanet:95699	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	223602	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:418	Orphanet:95699	\N	"Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	223603	\N	\N	EFO	1	EFO	Congenital adrenal hyperplasia	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:90776	Orphanet:95699	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	223604	\N	\N	EFO	1	EFO	46,XX disorder of sex development induced by fetal androgens excess	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:90786	Orphanet:95699	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	223605	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	580251	\N	\N	EFO	2	EFO	Craniosynostosis	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:101960	Orphanet:418	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	580252	\N	\N	EFO	2	EFO	Genetic chronic primary adrenal insufficiency	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:181412	Orphanet:418	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	580253	\N	\N	EFO	2	EFO	Adrenogenital syndrome	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:325665	Orphanet:90776	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	580254	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:325697	Orphanet:90776	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	580255	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:325632	Orphanet:90786	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	580256	\N	\N	EFO	2	EFO	46,XY disorder of sex development of gynecological interest	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:90783	Orphanet:90786	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	580257	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to testosterone synthesis defect	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	1164121	\N	\N	EFO	3	EFO	Genetic cranial malformation	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	1164122	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	1164123	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:183637	Orphanet:181412	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	1164124	\N	\N	EFO	3	EFO	Rare genetic adrenal disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	2047947	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	1164126	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	1164127	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:325357	Orphanet:90783	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	1164128	\N	\N	EFO	3	EFO	46,XY disorder of sex development due to impaired androgen production	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	2047938	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	2047939	\N	\N	EFO	4	EFO	Rare genetic bone disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	2047940	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	2047941	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	3000491	\N	\N	EFO	5	EFO	genetic disorder	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	3000492	\N	\N	EFO	5	EFO	reproductive system disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	5419143	\N	\N	EFO	7	EFO	Rare genetic urogenital disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	5419144	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	5419145	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	2047948	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	5817921	\N	\N	EFO	8	EFO	genetic disorder	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	3197991	\N	\N	EFO	5	EFO	genetic disorder	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	3197992	\N	\N	EFO	5	EFO	bone disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	3197993	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	5817919	\N	\N	EFO	8	EFO	genetic disorder	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	5817920	\N	\N	EFO	8	EFO	endocrine system disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	6410441	\N	\N	EFO	9	EFO	disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	4134539	\N	\N	EFO	6	EFO	disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	5817918	\N	\N	EFO	8	EFO	genetic disorder	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	3197999	\N	\N	EFO	5	EFO	Genetic 46,XY disorder of sex development	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	4403363	\N	\N	EFO	6	EFO	skeletal system disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	6410442	\N	\N	EFO	9	EFO	disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	6778861	\N	\N	EFO	10	EFO	disposition	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	4403367	\N	\N	EFO	6	EFO	Genetic disorder of sex development	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	5419141	\N	\N	EFO	7	EFO	disease	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	7030048	\N	\N	EFO	11	EFO	material property	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95699	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." []	7181837	\N	\N	EFO	12	EFO	experimental factor	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Orphanet:957	\N	\N	"" []	Orphanet:957	"" []	78690	\N	\N	EFO	0	EFO	Acropectorovertebral dysplasia	Acropectorovertebral dysplasia
Orphanet:294959	Orphanet:957	\N	"" []	Orphanet:957	"" []	223606	\N	\N	EFO	1	EFO	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Acropectorovertebral dysplasia
Orphanet:404571	Orphanet:294959	\N	"" []	Orphanet:957	"" []	580258	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Acropectorovertebral dysplasia
Orphanet:404577	Orphanet:294959	\N	"" []	Orphanet:957	"" []	580259	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Acropectorovertebral dysplasia
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:957	"" []	1164129	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Acropectorovertebral dysplasia
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:957	"" []	1164130	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Acropectorovertebral dysplasia
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:957	"" []	2047949	\N	\N	EFO	4	EFO	Rare genetic bone disease	Acropectorovertebral dysplasia
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:957	"" []	2047950	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Acropectorovertebral dysplasia
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:957	"" []	2047951	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acropectorovertebral dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:957	"" []	3198000	\N	\N	EFO	5	EFO	genetic disorder	Acropectorovertebral dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:957	"" []	3198001	\N	\N	EFO	5	EFO	bone disease	Acropectorovertebral dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:957	"" []	3198002	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Acropectorovertebral dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:957	"" []	4403370	\N	\N	EFO	6	EFO	genetic disorder	Acropectorovertebral dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:957	"" []	5183707	\N	\N	EFO	7	EFO	disease	Acropectorovertebral dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:957	"" []	4403369	\N	\N	EFO	6	EFO	skeletal system disease	Acropectorovertebral dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:957	"" []	5999033	\N	\N	EFO	8	EFO	disposition	Acropectorovertebral dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:957	"" []	5419147	\N	\N	EFO	7	EFO	disease	Acropectorovertebral dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:957	"" []	6552012	\N	\N	EFO	9	EFO	material property	Acropectorovertebral dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:957	"" []	6889622	\N	\N	EFO	10	EFO	experimental factor	Acropectorovertebral dysplasia
Orphanet:95700	\N	\N	"" []	Orphanet:95700	"" []	78691	\N	\N	EFO	0	EFO	Familial adrenal hypoplasia with absent pituitary luteinizing hormone	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:101960	Orphanet:95700	\N	"" []	Orphanet:95700	"" []	223607	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:181390	Orphanet:95700	\N	"" []	Orphanet:95700	"" []	223608	\N	\N	EFO	1	EFO	Hypogonadotropic hypogonadism associated with other endocrinopathies	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:98087	Orphanet:95700	\N	"" []	Orphanet:95700	"" []	223609	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:95700	"" []	580260	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:174590	Orphanet:181390	\N	"" []	Orphanet:95700	"" []	580261	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:399839	Orphanet:181390	\N	"" []	Orphanet:95700	"" []	580262	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:95700	"" []	580263	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:95700	"" []	1164131	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:95700	"" []	1164132	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:95700	"" []	1164133	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:95700	"" []	1164134	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:95700	"" []	1164135	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:95700	"" []	1164136	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95700	"" []	5419151	\N	\N	EFO	7	EFO	genetic disorder	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95700	"" []	5419152	\N	\N	EFO	7	EFO	endocrine system disease	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:95700	"" []	2047954	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:95700	"" []	2047955	\N	\N	EFO	4	EFO	Rare genetic male infertility	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:95700	"" []	2047956	\N	\N	EFO	4	EFO	Pituitary deficiency	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:95700	"" []	2047957	\N	\N	EFO	4	EFO	Rare genetic female infertility	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:95700	"" []	2047958	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:95700	"" []	2047959	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:95700	"" []	2047960	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95700	"" []	5817922	\N	\N	EFO	8	EFO	disease	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95700	"" []	5817923	\N	\N	EFO	8	EFO	disease	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95700	"" []	3198006	\N	\N	EFO	5	EFO	genetic disorder	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:95700	"" []	3198007	\N	\N	EFO	5	EFO	reproductive system disease	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:95700	"" []	3198008	\N	\N	EFO	5	EFO	Genetic infertility	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:95700	"" []	3198009	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:95700	"" []	3198010	\N	\N	EFO	5	EFO	Genetic infertility	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95700	"" []	3198011	\N	\N	EFO	5	EFO	genetic disorder	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95700	"" []	3198014	\N	\N	EFO	5	EFO	genetic disorder	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95700	"" []	6410443	\N	\N	EFO	9	EFO	disposition	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95700	"" []	5419150	\N	\N	EFO	7	EFO	disease	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95700	"" []	4403373	\N	\N	EFO	6	EFO	genetic disorder	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:95700	"" []	4403374	\N	\N	EFO	6	EFO	reproductive system disease	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:95700	"" []	4403375	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95700	"" []	6808245	\N	\N	EFO	10	EFO	material property	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95700	"" []	7048861	\N	\N	EFO	11	EFO	experimental factor	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Orphanet:95702	\N	\N	"" []	Orphanet:95702	"" []	78692	\N	\N	EFO	0	EFO	Cytomegalic congenital adrenal hypoplasia	Cytomegalic congenital adrenal hypoplasia
Orphanet:101960	Orphanet:95702	\N	"" []	Orphanet:95702	"" []	223610	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	Cytomegalic congenital adrenal hypoplasia
Orphanet:181390	Orphanet:95702	\N	"" []	Orphanet:95702	"" []	223611	\N	\N	EFO	1	EFO	Hypogonadotropic hypogonadism associated with other endocrinopathies	Cytomegalic congenital adrenal hypoplasia
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:95702	"" []	580264	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Cytomegalic congenital adrenal hypoplasia
Orphanet:174590	Orphanet:181390	\N	"" []	Orphanet:95702	"" []	580265	\N	\N	EFO	2	EFO	Congenital hypogonadotropic hypogonadism	Cytomegalic congenital adrenal hypoplasia
Orphanet:399839	Orphanet:181390	\N	"" []	Orphanet:95702	"" []	580266	\N	\N	EFO	2	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Cytomegalic congenital adrenal hypoplasia
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:95702	"" []	1164137	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Cytomegalic congenital adrenal hypoplasia
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:95702	"" []	1164138	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Cytomegalic congenital adrenal hypoplasia
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:95702	"" []	1164139	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Cytomegalic congenital adrenal hypoplasia
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:95702	"" []	1164140	\N	\N	EFO	3	EFO	Non-acquired pituitary hormone deficiency	Cytomegalic congenital adrenal hypoplasia
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:95702	"" []	1164141	\N	\N	EFO	3	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Cytomegalic congenital adrenal hypoplasia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95702	"" []	5419156	\N	\N	EFO	7	EFO	genetic disorder	Cytomegalic congenital adrenal hypoplasia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95702	"" []	5419157	\N	\N	EFO	7	EFO	endocrine system disease	Cytomegalic congenital adrenal hypoplasia
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:95702	"" []	2047963	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Cytomegalic congenital adrenal hypoplasia
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:95702	"" []	2047964	\N	\N	EFO	4	EFO	Rare genetic male infertility	Cytomegalic congenital adrenal hypoplasia
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:95702	"" []	2047965	\N	\N	EFO	4	EFO	Pituitary deficiency	Cytomegalic congenital adrenal hypoplasia
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:95702	"" []	2047966	\N	\N	EFO	4	EFO	Rare genetic female infertility	Cytomegalic congenital adrenal hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95702	"" []	5817924	\N	\N	EFO	8	EFO	disease	Cytomegalic congenital adrenal hypoplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95702	"" []	5817925	\N	\N	EFO	8	EFO	disease	Cytomegalic congenital adrenal hypoplasia
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95702	"" []	3198017	\N	\N	EFO	5	EFO	genetic disorder	Cytomegalic congenital adrenal hypoplasia
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:95702	"" []	3198018	\N	\N	EFO	5	EFO	reproductive system disease	Cytomegalic congenital adrenal hypoplasia
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:95702	"" []	3198019	\N	\N	EFO	5	EFO	Genetic infertility	Cytomegalic congenital adrenal hypoplasia
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:95702	"" []	3198020	\N	\N	EFO	5	EFO	Rare genetic hypothalamic or pituitary disease	Cytomegalic congenital adrenal hypoplasia
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:95702	"" []	3198021	\N	\N	EFO	5	EFO	Genetic infertility	Cytomegalic congenital adrenal hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95702	"" []	6410444	\N	\N	EFO	9	EFO	disposition	Cytomegalic congenital adrenal hypoplasia
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95702	"" []	5419155	\N	\N	EFO	7	EFO	disease	Cytomegalic congenital adrenal hypoplasia
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95702	"" []	4403379	\N	\N	EFO	6	EFO	genetic disorder	Cytomegalic congenital adrenal hypoplasia
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:95702	"" []	4403380	\N	\N	EFO	6	EFO	reproductive system disease	Cytomegalic congenital adrenal hypoplasia
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:95702	"" []	4403381	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Cytomegalic congenital adrenal hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95702	"" []	6808246	\N	\N	EFO	10	EFO	material property	Cytomegalic congenital adrenal hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95702	"" []	7048862	\N	\N	EFO	11	EFO	experimental factor	Cytomegalic congenital adrenal hypoplasia
Orphanet:95710	\N	\N	"" []	Orphanet:95710	"" []	78693	\N	\N	EFO	0	EFO	Non-acquired premature ovarian failure	Non-acquired premature ovarian failure
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:95710	"" []	223612	\N	\N	EFO	1	EFO	ovarian disease	Non-acquired premature ovarian failure
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:95710	"" []	223613	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Non-acquired premature ovarian failure
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:95710	"" []	223614	\N	\N	EFO	1	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Non-acquired premature ovarian failure
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:95710	"" []	580267	\N	\N	EFO	2	EFO	reproductive system disease	Non-acquired premature ovarian failure
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95710	"" []	580268	\N	\N	EFO	2	EFO	genetic disorder	Non-acquired premature ovarian failure
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95710	"" []	580269	\N	\N	EFO	2	EFO	endocrine system disease	Non-acquired premature ovarian failure
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:95710	"" []	580270	\N	\N	EFO	2	EFO	Rare genetic gynecological and obstetrical diseases	Non-acquired premature ovarian failure
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95710	"" []	2047969	\N	\N	EFO	4	EFO	disease	Non-acquired premature ovarian failure
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95710	"" []	2047968	\N	\N	EFO	4	EFO	disease	Non-acquired premature ovarian failure
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95710	"" []	1164144	\N	\N	EFO	3	EFO	disease	Non-acquired premature ovarian failure
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95710	"" []	1164145	\N	\N	EFO	3	EFO	genetic disorder	Non-acquired premature ovarian failure
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:95710	"" []	1164146	\N	\N	EFO	3	EFO	reproductive system disease	Non-acquired premature ovarian failure
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95710	"" []	3000493	\N	\N	EFO	5	EFO	disposition	Non-acquired premature ovarian failure
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95710	"" []	4134542	\N	\N	EFO	6	EFO	material property	Non-acquired premature ovarian failure
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95710	"" []	5183710	\N	\N	EFO	7	EFO	experimental factor	Non-acquired premature ovarian failure
Orphanet:95711	\N	\N	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	78694	\N	\N	EFO	0	EFO	Congenital hypothyroidism due to developmental anomaly	Congenital hypothyroidism due to developmental anomaly
Orphanet:226295	Orphanet:95711	\N	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	223615	\N	\N	EFO	1	EFO	Primary congenital hypothyroidism	Congenital hypothyroidism due to developmental anomaly
Orphanet:226292	Orphanet:226295	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	580271	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Congenital hypothyroidism due to developmental anomaly
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	1164147	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Congenital hypothyroidism due to developmental anomaly
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	2047970	\N	\N	EFO	4	EFO	Rare hypothyroidism	Congenital hypothyroidism due to developmental anomaly
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	3198023	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Congenital hypothyroidism due to developmental anomaly
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	4403383	\N	\N	EFO	6	EFO	thyroid disease	Congenital hypothyroidism due to developmental anomaly
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	4403384	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Congenital hypothyroidism due to developmental anomaly
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	5419158	\N	\N	EFO	7	EFO	endocrine system disease	Congenital hypothyroidism due to developmental anomaly
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	5419159	\N	\N	EFO	7	EFO	genetic disorder	Congenital hypothyroidism due to developmental anomaly
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	5419160	\N	\N	EFO	7	EFO	endocrine system disease	Congenital hypothyroidism due to developmental anomaly
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	6153445	\N	\N	EFO	8	EFO	disease	Congenital hypothyroidism due to developmental anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	6153446	\N	\N	EFO	8	EFO	disease	Congenital hypothyroidism due to developmental anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	6634414	\N	\N	EFO	9	EFO	disposition	Congenital hypothyroidism due to developmental anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	6926334	\N	\N	EFO	10	EFO	material property	Congenital hypothyroidism due to developmental anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95711	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	7099337	\N	\N	EFO	11	EFO	experimental factor	Congenital hypothyroidism due to developmental anomaly
Orphanet:95712	\N	\N	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	78695	\N	\N	EFO	0	EFO	Thyroid ectopia	Thyroid ectopia
Orphanet:95711	Orphanet:95712	\N	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	223616	\N	\N	EFO	1	EFO	Congenital hypothyroidism due to developmental anomaly	Thyroid ectopia
Orphanet:226295	Orphanet:95711	\N	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	580272	\N	\N	EFO	2	EFO	Primary congenital hypothyroidism	Thyroid ectopia
Orphanet:226292	Orphanet:226295	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	1164148	\N	\N	EFO	3	EFO	Permanent congenital hypothyroidism	Thyroid ectopia
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	2047971	\N	\N	EFO	4	EFO	Congenital hypothyroidism	Thyroid ectopia
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	3198024	\N	\N	EFO	5	EFO	Rare hypothyroidism	Thyroid ectopia
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	4403385	\N	\N	EFO	6	EFO	Rare genetic thyroid disease	Thyroid ectopia
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	5419161	\N	\N	EFO	7	EFO	thyroid disease	Thyroid ectopia
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	5419162	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Thyroid ectopia
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6153447	\N	\N	EFO	8	EFO	endocrine system disease	Thyroid ectopia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6153448	\N	\N	EFO	8	EFO	genetic disorder	Thyroid ectopia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6153449	\N	\N	EFO	8	EFO	endocrine system disease	Thyroid ectopia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6634415	\N	\N	EFO	9	EFO	disease	Thyroid ectopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6634416	\N	\N	EFO	9	EFO	disease	Thyroid ectopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6926335	\N	\N	EFO	10	EFO	disposition	Thyroid ectopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	7099338	\N	\N	EFO	11	EFO	material property	Thyroid ectopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95712	"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	7208364	\N	\N	EFO	12	EFO	experimental factor	Thyroid ectopia
Orphanet:95713	\N	\N	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	78696	\N	\N	EFO	0	EFO	Athyreosis	Athyreosis
Orphanet:95711	Orphanet:95713	\N	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	223617	\N	\N	EFO	1	EFO	Congenital hypothyroidism due to developmental anomaly	Athyreosis
Orphanet:226295	Orphanet:95711	\N	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	580273	\N	\N	EFO	2	EFO	Primary congenital hypothyroidism	Athyreosis
Orphanet:226292	Orphanet:226295	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	1164149	\N	\N	EFO	3	EFO	Permanent congenital hypothyroidism	Athyreosis
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	2047972	\N	\N	EFO	4	EFO	Congenital hypothyroidism	Athyreosis
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	3198025	\N	\N	EFO	5	EFO	Rare hypothyroidism	Athyreosis
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	4403386	\N	\N	EFO	6	EFO	Rare genetic thyroid disease	Athyreosis
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	5419163	\N	\N	EFO	7	EFO	thyroid disease	Athyreosis
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	5419164	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Athyreosis
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6153450	\N	\N	EFO	8	EFO	endocrine system disease	Athyreosis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6153451	\N	\N	EFO	8	EFO	genetic disorder	Athyreosis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6153452	\N	\N	EFO	8	EFO	endocrine system disease	Athyreosis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6634417	\N	\N	EFO	9	EFO	disease	Athyreosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6634418	\N	\N	EFO	9	EFO	disease	Athyreosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6926336	\N	\N	EFO	10	EFO	disposition	Athyreosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	7099339	\N	\N	EFO	11	EFO	material property	Athyreosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95713	"Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	7208365	\N	\N	EFO	12	EFO	experimental factor	Athyreosis
Orphanet:95714	\N	\N	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	78697	\N	\N	EFO	0	EFO	Primary congenital hypothyroidism without thyroid developmental anomaly	Primary congenital hypothyroidism without thyroid developmental anomaly
Orphanet:226295	Orphanet:95714	\N	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	223618	\N	\N	EFO	1	EFO	Primary congenital hypothyroidism	Primary congenital hypothyroidism without thyroid developmental anomaly
Orphanet:226292	Orphanet:226295	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	580274	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Primary congenital hypothyroidism without thyroid developmental anomaly
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	1164150	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Primary congenital hypothyroidism without thyroid developmental anomaly
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	2047973	\N	\N	EFO	4	EFO	Rare hypothyroidism	Primary congenital hypothyroidism without thyroid developmental anomaly
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	3198026	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Primary congenital hypothyroidism without thyroid developmental anomaly
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	4403387	\N	\N	EFO	6	EFO	thyroid disease	Primary congenital hypothyroidism without thyroid developmental anomaly
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	4403388	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Primary congenital hypothyroidism without thyroid developmental anomaly
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	5419165	\N	\N	EFO	7	EFO	endocrine system disease	Primary congenital hypothyroidism without thyroid developmental anomaly
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	5419166	\N	\N	EFO	7	EFO	genetic disorder	Primary congenital hypothyroidism without thyroid developmental anomaly
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	5419167	\N	\N	EFO	7	EFO	endocrine system disease	Primary congenital hypothyroidism without thyroid developmental anomaly
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	6153453	\N	\N	EFO	8	EFO	disease	Primary congenital hypothyroidism without thyroid developmental anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	6153454	\N	\N	EFO	8	EFO	disease	Primary congenital hypothyroidism without thyroid developmental anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	6634419	\N	\N	EFO	9	EFO	disposition	Primary congenital hypothyroidism without thyroid developmental anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	6926337	\N	\N	EFO	10	EFO	material property	Primary congenital hypothyroidism without thyroid developmental anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95714	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	7099340	\N	\N	EFO	11	EFO	experimental factor	Primary congenital hypothyroidism without thyroid developmental anomaly
Orphanet:95716	\N	\N	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	78698	\N	\N	EFO	0	EFO	Familial thyroid dyshormonogenesis	Familial thyroid dyshormonogenesis
Orphanet:95714	Orphanet:95716	\N	"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	223619	\N	\N	EFO	1	EFO	Primary congenital hypothyroidism without thyroid developmental anomaly	Familial thyroid dyshormonogenesis
Orphanet:226295	Orphanet:95714	\N	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	580275	\N	\N	EFO	2	EFO	Primary congenital hypothyroidism	Familial thyroid dyshormonogenesis
Orphanet:226292	Orphanet:226295	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	1164151	\N	\N	EFO	3	EFO	Permanent congenital hypothyroidism	Familial thyroid dyshormonogenesis
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	2047974	\N	\N	EFO	4	EFO	Congenital hypothyroidism	Familial thyroid dyshormonogenesis
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	3198027	\N	\N	EFO	5	EFO	Rare hypothyroidism	Familial thyroid dyshormonogenesis
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	4403389	\N	\N	EFO	6	EFO	Rare genetic thyroid disease	Familial thyroid dyshormonogenesis
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	5419168	\N	\N	EFO	7	EFO	thyroid disease	Familial thyroid dyshormonogenesis
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	5419169	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Familial thyroid dyshormonogenesis
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	6153455	\N	\N	EFO	8	EFO	endocrine system disease	Familial thyroid dyshormonogenesis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	6153456	\N	\N	EFO	8	EFO	genetic disorder	Familial thyroid dyshormonogenesis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	6153457	\N	\N	EFO	8	EFO	endocrine system disease	Familial thyroid dyshormonogenesis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	6634420	\N	\N	EFO	9	EFO	disease	Familial thyroid dyshormonogenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	6634421	\N	\N	EFO	9	EFO	disease	Familial thyroid dyshormonogenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	6926338	\N	\N	EFO	10	EFO	disposition	Familial thyroid dyshormonogenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	7099341	\N	\N	EFO	11	EFO	material property	Familial thyroid dyshormonogenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95716	"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." []	7208366	\N	\N	EFO	12	EFO	experimental factor	Familial thyroid dyshormonogenesis
Orphanet:95719	\N	\N	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	78699	\N	\N	EFO	0	EFO	Thyroid hemiagenesis	Thyroid hemiagenesis
Orphanet:95711	Orphanet:95719	\N	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	223620	\N	\N	EFO	1	EFO	Congenital hypothyroidism due to developmental anomaly	Thyroid hemiagenesis
Orphanet:226295	Orphanet:95711	\N	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	580276	\N	\N	EFO	2	EFO	Primary congenital hypothyroidism	Thyroid hemiagenesis
Orphanet:226292	Orphanet:226295	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	1164152	\N	\N	EFO	3	EFO	Permanent congenital hypothyroidism	Thyroid hemiagenesis
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	2047975	\N	\N	EFO	4	EFO	Congenital hypothyroidism	Thyroid hemiagenesis
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	3198028	\N	\N	EFO	5	EFO	Rare hypothyroidism	Thyroid hemiagenesis
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	4403390	\N	\N	EFO	6	EFO	Rare genetic thyroid disease	Thyroid hemiagenesis
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	5419170	\N	\N	EFO	7	EFO	thyroid disease	Thyroid hemiagenesis
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	5419171	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Thyroid hemiagenesis
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6153458	\N	\N	EFO	8	EFO	endocrine system disease	Thyroid hemiagenesis
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6153459	\N	\N	EFO	8	EFO	genetic disorder	Thyroid hemiagenesis
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6153460	\N	\N	EFO	8	EFO	endocrine system disease	Thyroid hemiagenesis
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6634422	\N	\N	EFO	9	EFO	disease	Thyroid hemiagenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6634423	\N	\N	EFO	9	EFO	disease	Thyroid hemiagenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6926339	\N	\N	EFO	10	EFO	disposition	Thyroid hemiagenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	7099342	\N	\N	EFO	11	EFO	material property	Thyroid hemiagenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95719	"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	7208367	\N	\N	EFO	12	EFO	experimental factor	Thyroid hemiagenesis
Orphanet:95720	\N	\N	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	78700	\N	\N	EFO	0	EFO	Thyroid hypoplasia	Thyroid hypoplasia
Orphanet:95711	Orphanet:95720	\N	"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	223621	\N	\N	EFO	1	EFO	Congenital hypothyroidism due to developmental anomaly	Thyroid hypoplasia
Orphanet:226295	Orphanet:95711	\N	"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	580277	\N	\N	EFO	2	EFO	Primary congenital hypothyroidism	Thyroid hypoplasia
Orphanet:226292	Orphanet:226295	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	1164153	\N	\N	EFO	3	EFO	Permanent congenital hypothyroidism	Thyroid hypoplasia
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	2047976	\N	\N	EFO	4	EFO	Congenital hypothyroidism	Thyroid hypoplasia
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	3198029	\N	\N	EFO	5	EFO	Rare hypothyroidism	Thyroid hypoplasia
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	4403391	\N	\N	EFO	6	EFO	Rare genetic thyroid disease	Thyroid hypoplasia
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	5419172	\N	\N	EFO	7	EFO	thyroid disease	Thyroid hypoplasia
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	5419173	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Thyroid hypoplasia
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6153461	\N	\N	EFO	8	EFO	endocrine system disease	Thyroid hypoplasia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6153462	\N	\N	EFO	8	EFO	genetic disorder	Thyroid hypoplasia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6153463	\N	\N	EFO	8	EFO	endocrine system disease	Thyroid hypoplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6634424	\N	\N	EFO	9	EFO	disease	Thyroid hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6634425	\N	\N	EFO	9	EFO	disease	Thyroid hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	6926340	\N	\N	EFO	10	EFO	disposition	Thyroid hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	7099343	\N	\N	EFO	11	EFO	material property	Thyroid hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:95720	"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." []	7208368	\N	\N	EFO	12	EFO	experimental factor	Thyroid hypoplasia
Orphanet:958	\N	\N	"" []	Orphanet:958	"" []	78701	\N	\N	EFO	0	EFO	Acro-renal-mandibular syndrome	Acro-renal-mandibular syndrome
Orphanet:330206	Orphanet:958	\N	"" []	Orphanet:958	"" []	223622	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Acro-renal-mandibular syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:958	"" []	580278	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Acro-renal-mandibular syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:958	"" []	1164154	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acro-renal-mandibular syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:958	"" []	2047977	\N	\N	EFO	4	EFO	genetic disorder	Acro-renal-mandibular syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:958	"" []	3198030	\N	\N	EFO	5	EFO	disease	Acro-renal-mandibular syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:958	"" []	4403392	\N	\N	EFO	6	EFO	disposition	Acro-renal-mandibular syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:958	"" []	5419174	\N	\N	EFO	7	EFO	material property	Acro-renal-mandibular syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:958	"" []	6153464	\N	\N	EFO	8	EFO	experimental factor	Acro-renal-mandibular syndrome
Orphanet:959	\N	\N	"Le syndrome acro-rno-oculaire se caractrise par l'association de malformations oculaires, rnales et des extrmits. Ce syndrome est trs rare, il a t dcrit dans moins de 20 familles comprenant plusieurs patients atteints  des gnrations successives. Les anomalies des extrmits intressent le rayon radial et varient de l'hypoplasie de la phalange distale du pouce avec limitation de mobilit de l'articulation inter-phalangienne  l'hypoplasie svre du pouce et  la polydactylie pr-axiale (duplication du pouce), parfois associe  une syndactylie des doigts. Les anomalies rnales vont de la malrotation  l'ectopie croise avec fusion partielle sans vraie forme en fer  cheval ; on peut rencontrer d'autres anomalies de l'arbre urinaire telles que reflux vsico-urtral et diverticules vsicaux. Les anomalies oculaires comprennent un colobome du nerf optique, un ptosis et/ou une anomalie de Duane (strabisme congnital caractris par une limitation du mouvement horizontal de l'oeil, une rtraction du globe et un rtrcissement de la fente palpbrale lors de l'adduction). Une surdit neuro-sensorielle a t dcrite chez certains patients ; c'est pourquoi il a t propos que le syndrome de Okihiro (anomalie de Duane associe  des anomalies du rayon radial et  une surdit) et le syndrome acro-oculo-renal pouvaient constituer une entit unique. Le syndrome acro-oculo-renal se transmet sur le mode autosomique dominant, et une mutation du gne SALL4 (gne identifi chez des patients avec une anomalie de Duane) a t retrouve dans l'une des familles dcrites. Le patient avait, outre l'anomalie de Duane et une atteinte du rayon des membres et des reins, une surdit neuro-sensorielle, ce qui voque un syndrome de Okihiro." []	Orphanet:959	"Le syndrome acro-rno-oculaire se caractrise par l'association de malformations oculaires, rnales et des extrmits. Ce syndrome est trs rare, il a t dcrit dans moins de 20 familles comprenant plusieurs patients atteints  des gnrations successives. Les anomalies des extrmits intressent le rayon radial et varient de l'hypoplasie de la phalange distale du pouce avec limitation de mobilit de l'articulation inter-phalangienne  l'hypoplasie svre du pouce et  la polydactylie pr-axiale (duplication du pouce), parfois associe  une syndactylie des doigts. Les anomalies rnales vont de la malrotation  l'ectopie croise avec fusion partielle sans vraie forme en fer  cheval ; on peut rencontrer d'autres anomalies de l'arbre urinaire telles que reflux vsico-urtral et diverticules vsicaux. Les anomalies oculaires comprennent un colobome du nerf optique, un ptosis et/ou une anomalie de Duane (strabisme congnital caractris par une limitation du mouvement horizontal de l'oeil, une rtraction du globe et un rtrcissement de la fente palpbrale lors de l'adduction). Une surdit neuro-sensorielle a t dcrite chez certains patients ; c'est pourquoi il a t propos que le syndrome de Okihiro (anomalie de Duane associe  des anomalies du rayon radial et  une surdit) et le syndrome acro-oculo-renal pouvaient constituer une entit unique. Le syndrome acro-oculo-renal se transmet sur le mode autosomique dominant, et une mutation du gne SALL4 (gne identifi chez des patients avec une anomalie de Duane) a t retrouve dans l'une des familles dcrites. Le patient avait, outre l'anomalie de Duane et une atteinte du rayon des membres et des reins, une surdit neuro-sensorielle, ce qui voque un syndrome de Okihiro." []	78702	\N	\N	EFO	0	EFO	Acro-renal-ocular syndrome	Acro-renal-ocular syndrome
Orphanet:330206	Orphanet:959	\N	"" []	Orphanet:959	"Le syndrome acro-rno-oculaire se caractrise par l'association de malformations oculaires, rnales et des extrmits. Ce syndrome est trs rare, il a t dcrit dans moins de 20 familles comprenant plusieurs patients atteints  des gnrations successives. Les anomalies des extrmits intressent le rayon radial et varient de l'hypoplasie de la phalange distale du pouce avec limitation de mobilit de l'articulation inter-phalangienne  l'hypoplasie svre du pouce et  la polydactylie pr-axiale (duplication du pouce), parfois associe  une syndactylie des doigts. Les anomalies rnales vont de la malrotation  l'ectopie croise avec fusion partielle sans vraie forme en fer  cheval ; on peut rencontrer d'autres anomalies de l'arbre urinaire telles que reflux vsico-urtral et diverticules vsicaux. Les anomalies oculaires comprennent un colobome du nerf optique, un ptosis et/ou une anomalie de Duane (strabisme congnital caractris par une limitation du mouvement horizontal de l'oeil, une rtraction du globe et un rtrcissement de la fente palpbrale lors de l'adduction). Une surdit neuro-sensorielle a t dcrite chez certains patients ; c'est pourquoi il a t propos que le syndrome de Okihiro (anomalie de Duane associe  des anomalies du rayon radial et  une surdit) et le syndrome acro-oculo-renal pouvaient constituer une entit unique. Le syndrome acro-oculo-renal se transmet sur le mode autosomique dominant, et une mutation du gne SALL4 (gne identifi chez des patients avec une anomalie de Duane) a t retrouve dans l'une des familles dcrites. Le patient avait, outre l'anomalie de Duane et une atteinte du rayon des membres et des reins, une surdit neuro-sensorielle, ce qui voque un syndrome de Okihiro." []	223623	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Acro-renal-ocular syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:959	"Le syndrome acro-rno-oculaire se caractrise par l'association de malformations oculaires, rnales et des extrmits. Ce syndrome est trs rare, il a t dcrit dans moins de 20 familles comprenant plusieurs patients atteints  des gnrations successives. Les anomalies des extrmits intressent le rayon radial et varient de l'hypoplasie de la phalange distale du pouce avec limitation de mobilit de l'articulation inter-phalangienne  l'hypoplasie svre du pouce et  la polydactylie pr-axiale (duplication du pouce), parfois associe  une syndactylie des doigts. Les anomalies rnales vont de la malrotation  l'ectopie croise avec fusion partielle sans vraie forme en fer  cheval ; on peut rencontrer d'autres anomalies de l'arbre urinaire telles que reflux vsico-urtral et diverticules vsicaux. Les anomalies oculaires comprennent un colobome du nerf optique, un ptosis et/ou une anomalie de Duane (strabisme congnital caractris par une limitation du mouvement horizontal de l'oeil, une rtraction du globe et un rtrcissement de la fente palpbrale lors de l'adduction). Une surdit neuro-sensorielle a t dcrite chez certains patients ; c'est pourquoi il a t propos que le syndrome de Okihiro (anomalie de Duane associe  des anomalies du rayon radial et  une surdit) et le syndrome acro-oculo-renal pouvaient constituer une entit unique. Le syndrome acro-oculo-renal se transmet sur le mode autosomique dominant, et une mutation du gne SALL4 (gne identifi chez des patients avec une anomalie de Duane) a t retrouve dans l'une des familles dcrites. Le patient avait, outre l'anomalie de Duane et une atteinte du rayon des membres et des reins, une surdit neuro-sensorielle, ce qui voque un syndrome de Okihiro." []	580279	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Acro-renal-ocular syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:959	"Le syndrome acro-rno-oculaire se caractrise par l'association de malformations oculaires, rnales et des extrmits. Ce syndrome est trs rare, il a t dcrit dans moins de 20 familles comprenant plusieurs patients atteints  des gnrations successives. Les anomalies des extrmits intressent le rayon radial et varient de l'hypoplasie de la phalange distale du pouce avec limitation de mobilit de l'articulation inter-phalangienne  l'hypoplasie svre du pouce et  la polydactylie pr-axiale (duplication du pouce), parfois associe  une syndactylie des doigts. Les anomalies rnales vont de la malrotation  l'ectopie croise avec fusion partielle sans vraie forme en fer  cheval ; on peut rencontrer d'autres anomalies de l'arbre urinaire telles que reflux vsico-urtral et diverticules vsicaux. Les anomalies oculaires comprennent un colobome du nerf optique, un ptosis et/ou une anomalie de Duane (strabisme congnital caractris par une limitation du mouvement horizontal de l'oeil, une rtraction du globe et un rtrcissement de la fente palpbrale lors de l'adduction). Une surdit neuro-sensorielle a t dcrite chez certains patients ; c'est pourquoi il a t propos que le syndrome de Okihiro (anomalie de Duane associe  des anomalies du rayon radial et  une surdit) et le syndrome acro-oculo-renal pouvaient constituer une entit unique. Le syndrome acro-oculo-renal se transmet sur le mode autosomique dominant, et une mutation du gne SALL4 (gne identifi chez des patients avec une anomalie de Duane) a t retrouve dans l'une des familles dcrites. Le patient avait, outre l'anomalie de Duane et une atteinte du rayon des membres et des reins, une surdit neuro-sensorielle, ce qui voque un syndrome de Okihiro." []	1164155	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acro-renal-ocular syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:959	"Le syndrome acro-rno-oculaire se caractrise par l'association de malformations oculaires, rnales et des extrmits. Ce syndrome est trs rare, il a t dcrit dans moins de 20 familles comprenant plusieurs patients atteints  des gnrations successives. Les anomalies des extrmits intressent le rayon radial et varient de l'hypoplasie de la phalange distale du pouce avec limitation de mobilit de l'articulation inter-phalangienne  l'hypoplasie svre du pouce et  la polydactylie pr-axiale (duplication du pouce), parfois associe  une syndactylie des doigts. Les anomalies rnales vont de la malrotation  l'ectopie croise avec fusion partielle sans vraie forme en fer  cheval ; on peut rencontrer d'autres anomalies de l'arbre urinaire telles que reflux vsico-urtral et diverticules vsicaux. Les anomalies oculaires comprennent un colobome du nerf optique, un ptosis et/ou une anomalie de Duane (strabisme congnital caractris par une limitation du mouvement horizontal de l'oeil, une rtraction du globe et un rtrcissement de la fente palpbrale lors de l'adduction). Une surdit neuro-sensorielle a t dcrite chez certains patients ; c'est pourquoi il a t propos que le syndrome de Okihiro (anomalie de Duane associe  des anomalies du rayon radial et  une surdit) et le syndrome acro-oculo-renal pouvaient constituer une entit unique. Le syndrome acro-oculo-renal se transmet sur le mode autosomique dominant, et une mutation du gne SALL4 (gne identifi chez des patients avec une anomalie de Duane) a t retrouve dans l'une des familles dcrites. Le patient avait, outre l'anomalie de Duane et une atteinte du rayon des membres et des reins, une surdit neuro-sensorielle, ce qui voque un syndrome de Okihiro." []	2047978	\N	\N	EFO	4	EFO	genetic disorder	Acro-renal-ocular syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:959	"Le syndrome acro-rno-oculaire se caractrise par l'association de malformations oculaires, rnales et des extrmits. Ce syndrome est trs rare, il a t dcrit dans moins de 20 familles comprenant plusieurs patients atteints  des gnrations successives. Les anomalies des extrmits intressent le rayon radial et varient de l'hypoplasie de la phalange distale du pouce avec limitation de mobilit de l'articulation inter-phalangienne  l'hypoplasie svre du pouce et  la polydactylie pr-axiale (duplication du pouce), parfois associe  une syndactylie des doigts. Les anomalies rnales vont de la malrotation  l'ectopie croise avec fusion partielle sans vraie forme en fer  cheval ; on peut rencontrer d'autres anomalies de l'arbre urinaire telles que reflux vsico-urtral et diverticules vsicaux. Les anomalies oculaires comprennent un colobome du nerf optique, un ptosis et/ou une anomalie de Duane (strabisme congnital caractris par une limitation du mouvement horizontal de l'oeil, une rtraction du globe et un rtrcissement de la fente palpbrale lors de l'adduction). Une surdit neuro-sensorielle a t dcrite chez certains patients ; c'est pourquoi il a t propos que le syndrome de Okihiro (anomalie de Duane associe  des anomalies du rayon radial et  une surdit) et le syndrome acro-oculo-renal pouvaient constituer une entit unique. Le syndrome acro-oculo-renal se transmet sur le mode autosomique dominant, et une mutation du gne SALL4 (gne identifi chez des patients avec une anomalie de Duane) a t retrouve dans l'une des familles dcrites. Le patient avait, outre l'anomalie de Duane et une atteinte du rayon des membres et des reins, une surdit neuro-sensorielle, ce qui voque un syndrome de Okihiro." []	3198031	\N	\N	EFO	5	EFO	disease	Acro-renal-ocular syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:959	"Le syndrome acro-rno-oculaire se caractrise par l'association de malformations oculaires, rnales et des extrmits. Ce syndrome est trs rare, il a t dcrit dans moins de 20 familles comprenant plusieurs patients atteints  des gnrations successives. Les anomalies des extrmits intressent le rayon radial et varient de l'hypoplasie de la phalange distale du pouce avec limitation de mobilit de l'articulation inter-phalangienne  l'hypoplasie svre du pouce et  la polydactylie pr-axiale (duplication du pouce), parfois associe  une syndactylie des doigts. Les anomalies rnales vont de la malrotation  l'ectopie croise avec fusion partielle sans vraie forme en fer  cheval ; on peut rencontrer d'autres anomalies de l'arbre urinaire telles que reflux vsico-urtral et diverticules vsicaux. Les anomalies oculaires comprennent un colobome du nerf optique, un ptosis et/ou une anomalie de Duane (strabisme congnital caractris par une limitation du mouvement horizontal de l'oeil, une rtraction du globe et un rtrcissement de la fente palpbrale lors de l'adduction). Une surdit neuro-sensorielle a t dcrite chez certains patients ; c'est pourquoi il a t propos que le syndrome de Okihiro (anomalie de Duane associe  des anomalies du rayon radial et  une surdit) et le syndrome acro-oculo-renal pouvaient constituer une entit unique. Le syndrome acro-oculo-renal se transmet sur le mode autosomique dominant, et une mutation du gne SALL4 (gne identifi chez des patients avec une anomalie de Duane) a t retrouve dans l'une des familles dcrites. Le patient avait, outre l'anomalie de Duane et une atteinte du rayon des membres et des reins, une surdit neuro-sensorielle, ce qui voque un syndrome de Okihiro." []	4403393	\N	\N	EFO	6	EFO	disposition	Acro-renal-ocular syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:959	"Le syndrome acro-rno-oculaire se caractrise par l'association de malformations oculaires, rnales et des extrmits. Ce syndrome est trs rare, il a t dcrit dans moins de 20 familles comprenant plusieurs patients atteints  des gnrations successives. Les anomalies des extrmits intressent le rayon radial et varient de l'hypoplasie de la phalange distale du pouce avec limitation de mobilit de l'articulation inter-phalangienne  l'hypoplasie svre du pouce et  la polydactylie pr-axiale (duplication du pouce), parfois associe  une syndactylie des doigts. Les anomalies rnales vont de la malrotation  l'ectopie croise avec fusion partielle sans vraie forme en fer  cheval ; on peut rencontrer d'autres anomalies de l'arbre urinaire telles que reflux vsico-urtral et diverticules vsicaux. Les anomalies oculaires comprennent un colobome du nerf optique, un ptosis et/ou une anomalie de Duane (strabisme congnital caractris par une limitation du mouvement horizontal de l'oeil, une rtraction du globe et un rtrcissement de la fente palpbrale lors de l'adduction). Une surdit neuro-sensorielle a t dcrite chez certains patients ; c'est pourquoi il a t propos que le syndrome de Okihiro (anomalie de Duane associe  des anomalies du rayon radial et  une surdit) et le syndrome acro-oculo-renal pouvaient constituer une entit unique. Le syndrome acro-oculo-renal se transmet sur le mode autosomique dominant, et une mutation du gne SALL4 (gne identifi chez des patients avec une anomalie de Duane) a t retrouve dans l'une des familles dcrites. Le patient avait, outre l'anomalie de Duane et une atteinte du rayon des membres et des reins, une surdit neuro-sensorielle, ce qui voque un syndrome de Okihiro." []	5419175	\N	\N	EFO	7	EFO	material property	Acro-renal-ocular syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:959	"Le syndrome acro-rno-oculaire se caractrise par l'association de malformations oculaires, rnales et des extrmits. Ce syndrome est trs rare, il a t dcrit dans moins de 20 familles comprenant plusieurs patients atteints  des gnrations successives. Les anomalies des extrmits intressent le rayon radial et varient de l'hypoplasie de la phalange distale du pouce avec limitation de mobilit de l'articulation inter-phalangienne  l'hypoplasie svre du pouce et  la polydactylie pr-axiale (duplication du pouce), parfois associe  une syndactylie des doigts. Les anomalies rnales vont de la malrotation  l'ectopie croise avec fusion partielle sans vraie forme en fer  cheval ; on peut rencontrer d'autres anomalies de l'arbre urinaire telles que reflux vsico-urtral et diverticules vsicaux. Les anomalies oculaires comprennent un colobome du nerf optique, un ptosis et/ou une anomalie de Duane (strabisme congnital caractris par une limitation du mouvement horizontal de l'oeil, une rtraction du globe et un rtrcissement de la fente palpbrale lors de l'adduction). Une surdit neuro-sensorielle a t dcrite chez certains patients ; c'est pourquoi il a t propos que le syndrome de Okihiro (anomalie de Duane associe  des anomalies du rayon radial et  une surdit) et le syndrome acro-oculo-renal pouvaient constituer une entit unique. Le syndrome acro-oculo-renal se transmet sur le mode autosomique dominant, et une mutation du gne SALL4 (gne identifi chez des patients avec une anomalie de Duane) a t retrouve dans l'une des familles dcrites. Le patient avait, outre l'anomalie de Duane et une atteinte du rayon des membres et des reins, une surdit neuro-sensorielle, ce qui voque un syndrome de Okihiro." []	6153465	\N	\N	EFO	8	EFO	experimental factor	Acro-renal-ocular syndrome
Orphanet:96	\N	\N	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	78703	\N	\N	EFO	0	EFO	Ataxia with vitamin E deficiency	Ataxia with vitamin E deficiency
Orphanet:207018	Orphanet:96	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	223624	\N	\N	EFO	1	EFO	Rare hereditary metabolic disease with peripheral neuropathy	Ataxia with vitamin E deficiency
Orphanet:309833	Orphanet:96	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	223625	\N	\N	EFO	1	EFO	Disorder of other vitamins and cofactors metabolism and transport	Ataxia with vitamin E deficiency
Orphanet:68385	Orphanet:96	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	223626	\N	\N	EFO	1	EFO	Neurometabolic disease	Ataxia with vitamin E deficiency
Orphanet:98096	Orphanet:96	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	223627	\N	\N	EFO	1	EFO	Autosomal recessive metabolic cerebellar ataxia	Ataxia with vitamin E deficiency
Orphanet:98713	Orphanet:96	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	223628	\N	\N	EFO	1	EFO	Metabolic disease with pigmentary retinitis	Ataxia with vitamin E deficiency
Orphanet:207015	Orphanet:207018	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	580280	\N	\N	EFO	2	EFO	Rare hereditary disease with peripheral neuropathy	Ataxia with vitamin E deficiency
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	580281	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Ataxia with vitamin E deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	580282	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Ataxia with vitamin E deficiency
Orphanet:1172	Orphanet:98096	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	580283	\N	\N	EFO	2	EFO	Autosomal recessive cerebellar ataxia	Ataxia with vitamin E deficiency
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	580284	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Ataxia with vitamin E deficiency
Orphanet:98497	Orphanet:207015	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	1164156	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Ataxia with vitamin E deficiency
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	1164157	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Ataxia with vitamin E deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	6153467	\N	\N	EFO	8	EFO	genetic disorder	Ataxia with vitamin E deficiency
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	1164159	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Ataxia with vitamin E deficiency
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	1164160	\N	\N	EFO	3	EFO	Early-onset ataxia with dementia	Ataxia with vitamin E deficiency
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	1164161	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Ataxia with vitamin E deficiency
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	1164162	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ataxia with vitamin E deficiency
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	2047979	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Ataxia with vitamin E deficiency
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	2047980	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Ataxia with vitamin E deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	6370843	\N	\N	EFO	9	EFO	disease	Ataxia with vitamin E deficiency
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	2047982	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Ataxia with vitamin E deficiency
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	2047983	\N	\N	EFO	4	EFO	Ataxia with dementia	Ataxia with vitamin E deficiency
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	2047984	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Ataxia with vitamin E deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	5419182	\N	\N	EFO	7	EFO	genetic disorder	Ataxia with vitamin E deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	5419183	\N	\N	EFO	7	EFO	eye disease	Ataxia with vitamin E deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	3198033	\N	\N	EFO	5	EFO	genetic disorder	Ataxia with vitamin E deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	3198034	\N	\N	EFO	5	EFO	metabolic disease	Ataxia with vitamin E deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	6762409	\N	\N	EFO	10	EFO	disposition	Ataxia with vitamin E deficiency
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	3198036	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Ataxia with vitamin E deficiency
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	3198037	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Ataxia with vitamin E deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	5817927	\N	\N	EFO	8	EFO	disease	Ataxia with vitamin E deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	4403394	\N	\N	EFO	6	EFO	disease	Ataxia with vitamin E deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	7015722	\N	\N	EFO	11	EFO	material property	Ataxia with vitamin E deficiency
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	4403396	\N	\N	EFO	6	EFO	Genetic dementia	Ataxia with vitamin E deficiency
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	4403397	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Ataxia with vitamin E deficiency
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	4403398	\N	\N	EFO	6	EFO	Rare genetic eye disease	Ataxia with vitamin E deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	7173667	\N	\N	EFO	12	EFO	experimental factor	Ataxia with vitamin E deficiency
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	5419177	\N	\N	EFO	7	EFO	brain disease	Ataxia with vitamin E deficiency
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	5419178	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Ataxia with vitamin E deficiency
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	5419179	\N	\N	EFO	7	EFO	neurodegenerative disease	Ataxia with vitamin E deficiency
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	5419180	\N	\N	EFO	7	EFO	brain disease	Ataxia with vitamin E deficiency
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	5419181	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Ataxia with vitamin E deficiency
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	6153466	\N	\N	EFO	8	EFO	nervous system disease	Ataxia with vitamin E deficiency
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	6153468	\N	\N	EFO	8	EFO	nervous system disease	Ataxia with vitamin E deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96	"Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." []	6634426	\N	\N	EFO	9	EFO	disease	Ataxia with vitamin E deficiency
Orphanet:96055	\N	\N	"" []	Orphanet:96055	"" []	78704	\N	\N	EFO	0	EFO	Tetrasomy 21	Tetrasomy 21
Orphanet:98132	Orphanet:96055	\N	"" []	Orphanet:96055	"" []	223629	\N	\N	EFO	1	EFO	Partial autosomal trisomy/tetrasomy	Tetrasomy 21
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96055	"" []	580285	\N	\N	EFO	2	EFO	Autosomal trisomy	Tetrasomy 21
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96055	"" []	1164163	\N	\N	EFO	3	EFO	Autosomal anomaly	Tetrasomy 21
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96055	"" []	2047987	\N	\N	EFO	4	EFO	Chromosomal anomaly	Tetrasomy 21
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96055	"" []	3198040	\N	\N	EFO	5	EFO	genetic disorder	Tetrasomy 21
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96055	"" []	4403399	\N	\N	EFO	6	EFO	disease	Tetrasomy 21
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96055	"" []	5419184	\N	\N	EFO	7	EFO	disposition	Tetrasomy 21
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96055	"" []	6153469	\N	\N	EFO	8	EFO	material property	Tetrasomy 21
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96055	"" []	6634427	\N	\N	EFO	9	EFO	experimental factor	Tetrasomy 21
Orphanet:96059	\N	\N	"" []	Orphanet:96059	"" []	78705	\N	\N	EFO	0	EFO	Mosaic trisomy 4	Mosaic trisomy 4
Orphanet:98131	Orphanet:96059	\N	"" []	Orphanet:96059	"" []	223630	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 4
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:96059	"" []	580286	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 4
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96059	"" []	1164164	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 4
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96059	"" []	2047988	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 4
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96059	"" []	3198041	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96059	"" []	4403400	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96059	"" []	5419185	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96059	"" []	6153470	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96059	"" []	6634428	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 4
Orphanet:96060	\N	\N	"" []	Orphanet:96060	"" []	78706	\N	\N	EFO	0	EFO	Mosaic trisomy 5	Mosaic trisomy 5
Orphanet:98131	Orphanet:96060	\N	"" []	Orphanet:96060	"" []	223631	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 5
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:96060	"" []	580287	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 5
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96060	"" []	1164165	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 5
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96060	"" []	2047989	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 5
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96060	"" []	3198042	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96060	"" []	4403401	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96060	"" []	5419186	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96060	"" []	6153471	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96060	"" []	6634429	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 5
Orphanet:96061	\N	\N	"" []	Orphanet:96061	"" []	78707	\N	\N	EFO	0	EFO	Mosaic trisomy 8	Mosaic trisomy 8
Orphanet:98131	Orphanet:96061	\N	"" []	Orphanet:96061	"" []	223632	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 8
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:96061	"" []	580288	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 8
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96061	"" []	1164166	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 8
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96061	"" []	2047990	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 8
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96061	"" []	3198043	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96061	"" []	4403402	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96061	"" []	5419187	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96061	"" []	6153472	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96061	"" []	6634430	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 8
Orphanet:96063	\N	\N	"" []	Orphanet:96063	"" []	78708	\N	\N	EFO	0	EFO	Mosaic trisomy 10	Mosaic trisomy 10
Orphanet:98131	Orphanet:96063	\N	"" []	Orphanet:96063	"" []	223633	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 10
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:96063	"" []	580289	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 10
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96063	"" []	1164167	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 10
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96063	"" []	2047991	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 10
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96063	"" []	3198044	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 10
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96063	"" []	4403403	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 10
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96063	"" []	5419188	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 10
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96063	"" []	6153473	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 10
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96063	"" []	6634431	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 10
Orphanet:96068	\N	\N	"" []	Orphanet:96068	"" []	78709	\N	\N	EFO	0	EFO	Mosaic trisomy 22	Mosaic trisomy 22
Orphanet:98131	Orphanet:96068	\N	"" []	Orphanet:96068	"" []	223634	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 22
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:96068	"" []	580290	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 22
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96068	"" []	1164168	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 22
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96068	"" []	2047992	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 22
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96068	"" []	3198045	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 22
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96068	"" []	4403404	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 22
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96068	"" []	5419189	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 22
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96068	"" []	6153474	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 22
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96068	"" []	6634432	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 22
Orphanet:96069	\N	\N	"" []	Orphanet:96069	"" []	78710	\N	\N	EFO	0	EFO	Distal trisomy 1p36	Distal trisomy 1p36
Orphanet:264431	Orphanet:96069	\N	"" []	Orphanet:96069	"" []	223635	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 1	Distal trisomy 1p36
Orphanet:262191	Orphanet:264431	\N	"" []	Orphanet:96069	"" []	580291	\N	\N	EFO	2	EFO	Partial duplication of chromosome 1	Distal trisomy 1p36
Orphanet:98132	Orphanet:262191	\N	"" []	Orphanet:96069	"" []	1164169	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 1p36
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96069	"" []	2047993	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 1p36
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96069	"" []	3198046	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 1p36
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96069	"" []	4403405	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 1p36
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96069	"" []	5419190	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 1p36
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96069	"" []	6153475	\N	\N	EFO	8	EFO	disease	Distal trisomy 1p36
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96069	"" []	6634433	\N	\N	EFO	9	EFO	disposition	Distal trisomy 1p36
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96069	"" []	6926341	\N	\N	EFO	10	EFO	material property	Distal trisomy 1p36
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96069	"" []	7099344	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 1p36
Orphanet:96070	\N	\N	"" []	Orphanet:96070	"" []	78711	\N	\N	EFO	0	EFO	Distal trisomy 2p	Distal trisomy 2p
Orphanet:262698	Orphanet:96070	\N	"" []	Orphanet:96070	"" []	223636	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 2	Distal trisomy 2p
Orphanet:262196	Orphanet:262698	\N	"" []	Orphanet:96070	"" []	580292	\N	\N	EFO	2	EFO	Partial duplication of chromosome 2	Distal trisomy 2p
Orphanet:98132	Orphanet:262196	\N	"" []	Orphanet:96070	"" []	1164170	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 2p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96070	"" []	2047994	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 2p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96070	"" []	3198047	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 2p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96070	"" []	4403406	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 2p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96070	"" []	5419191	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 2p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96070	"" []	6153476	\N	\N	EFO	8	EFO	disease	Distal trisomy 2p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96070	"" []	6634434	\N	\N	EFO	9	EFO	disposition	Distal trisomy 2p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96070	"" []	6926342	\N	\N	EFO	10	EFO	material property	Distal trisomy 2p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96070	"" []	7099345	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 2p
Orphanet:96071	\N	\N	"" []	Orphanet:96071	"" []	78712	\N	\N	EFO	0	EFO	Distal trisomy 3p	Distal trisomy 3p
Orphanet:262707	Orphanet:96071	\N	"" []	Orphanet:96071	"" []	223637	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 3	Distal trisomy 3p
Orphanet:262201	Orphanet:262707	\N	"" []	Orphanet:96071	"" []	580293	\N	\N	EFO	2	EFO	Partial duplication of chromosome 3	Distal trisomy 3p
Orphanet:98132	Orphanet:262201	\N	"" []	Orphanet:96071	"" []	1164171	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 3p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96071	"" []	2047995	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 3p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96071	"" []	3198048	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 3p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96071	"" []	4403407	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 3p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96071	"" []	5419192	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 3p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96071	"" []	6153477	\N	\N	EFO	8	EFO	disease	Distal trisomy 3p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96071	"" []	6634435	\N	\N	EFO	9	EFO	disposition	Distal trisomy 3p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96071	"" []	6926343	\N	\N	EFO	10	EFO	material property	Distal trisomy 3p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96071	"" []	7099346	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 3p
Orphanet:96072	\N	\N	"" []	Orphanet:96072	"" []	78713	\N	\N	EFO	0	EFO	4p16.3 microduplication syndrome	4p16.3 microduplication syndrome
Orphanet:262716	Orphanet:96072	\N	"" []	Orphanet:96072	"" []	223638	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 4	4p16.3 microduplication syndrome
Orphanet:262206	Orphanet:262716	\N	"" []	Orphanet:96072	"" []	580294	\N	\N	EFO	2	EFO	Partial duplication of chromosome 4	4p16.3 microduplication syndrome
Orphanet:98132	Orphanet:262206	\N	"" []	Orphanet:96072	"" []	1164172	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	4p16.3 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96072	"" []	2047996	\N	\N	EFO	4	EFO	Autosomal trisomy	4p16.3 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96072	"" []	3198049	\N	\N	EFO	5	EFO	Autosomal anomaly	4p16.3 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96072	"" []	4403408	\N	\N	EFO	6	EFO	Chromosomal anomaly	4p16.3 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96072	"" []	5419193	\N	\N	EFO	7	EFO	genetic disorder	4p16.3 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96072	"" []	6153478	\N	\N	EFO	8	EFO	disease	4p16.3 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96072	"" []	6634436	\N	\N	EFO	9	EFO	disposition	4p16.3 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96072	"" []	6926344	\N	\N	EFO	10	EFO	material property	4p16.3 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96072	"" []	7099347	\N	\N	EFO	11	EFO	experimental factor	4p16.3 microduplication syndrome
Orphanet:96074	\N	\N	"" []	Orphanet:96074	"" []	78714	\N	\N	EFO	0	EFO	Distal trisomy 7p	Distal trisomy 7p
Orphanet:262749	Orphanet:96074	\N	"" []	Orphanet:96074	"" []	223639	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 7	Distal trisomy 7p
Orphanet:262633	Orphanet:262749	\N	"" []	Orphanet:96074	"" []	580295	\N	\N	EFO	2	EFO	Partial duplication of chromosome 7	Distal trisomy 7p
Orphanet:98132	Orphanet:262633	\N	"" []	Orphanet:96074	"" []	1164173	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 7p
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96074	"" []	2047997	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 7p
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96074	"" []	3198050	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 7p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96074	"" []	4403409	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 7p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96074	"" []	5419194	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 7p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96074	"" []	6153479	\N	\N	EFO	8	EFO	disease	Distal trisomy 7p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96074	"" []	6634437	\N	\N	EFO	9	EFO	disposition	Distal trisomy 7p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96074	"" []	6926345	\N	\N	EFO	10	EFO	material property	Distal trisomy 7p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96074	"" []	7099348	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 7p
Orphanet:96076	\N	\N	"" []	Orphanet:96076	"" []	78715	\N	\N	EFO	0	EFO	Beckwith-Wiedemann syndrome due to 11p15 microduplication	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:116	Orphanet:96076	\N	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	Orphanet:96076	"" []	223640	\N	\N	EFO	1	EFO	Beckwith-Wiedemann syndrome	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:262785	Orphanet:96076	\N	"" []	Orphanet:96076	"" []	223641	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 11	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:156207	Orphanet:116	\N	"" []	Orphanet:96076	"" []	580296	\N	\N	EFO	2	EFO	Macroglossia	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:156237	Orphanet:116	\N	"" []	Orphanet:96076	"" []	580297	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:183422	Orphanet:116	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:96076	"" []	580298	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:183595	Orphanet:116	\N	"" []	Orphanet:96076	"" []	580299	\N	\N	EFO	2	EFO	Genetic renal tumor	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:217595	Orphanet:116	\N	"" []	Orphanet:96076	"" []	580300	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:93460	Orphanet:116	\N	"" []	Orphanet:96076	"" []	580301	\N	\N	EFO	2	EFO	Overgrowth syndrome	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:93547	Orphanet:116	\N	"" []	Orphanet:96076	"" []	580302	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:262653	Orphanet:262785	\N	"" []	Orphanet:96076	"" []	580303	\N	\N	EFO	2	EFO	Partial duplication of chromosome 11	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:96076	"" []	1164174	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:96076	"" []	1164175	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:96076	"" []	1164176	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:96076	"" []	1164177	\N	\N	EFO	3	EFO	urogenital neoplasm	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:96076	"" []	1164178	\N	\N	EFO	3	EFO	Rare genetic tumor	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:96076	"" []	1164179	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:96076	"" []	1164180	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:96076	"" []	1164181	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:98132	Orphanet:262653	\N	"" []	Orphanet:96076	"" []	1164182	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:96076	"" []	3198052	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:96076	"" []	2047999	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96076	"" []	2048000	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:96076	"" []	2048001	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96076	"" []	2048002	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:96076	"" []	2048003	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:96076	"" []	2048004	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:96076	"" []	2048005	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:96076	"" []	2048006	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:96076	"" []	2048007	\N	\N	EFO	4	EFO	Rare genetic renal disease	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96076	"" []	2048008	\N	\N	EFO	4	EFO	Autosomal trisomy	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96076	"" []	4134544	\N	\N	EFO	6	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96076	"" []	6153481	\N	\N	EFO	8	EFO	disease	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96076	"" []	3198054	\N	\N	EFO	5	EFO	disease	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96076	"" []	3198055	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:96076	"" []	3198056	\N	\N	EFO	5	EFO	heart disease	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96076	"" []	3198057	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96076	"" []	3198058	\N	\N	EFO	5	EFO	Autosomal anomaly	Beckwith-Wiedemann syndrome due to 11p15 microduplication
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96076	"" []	6410445	\N	\N	EFO	9	EFO	disposition	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:96076	"" []	4403412	\N	\N	EFO	6	EFO	cardiovascular disease	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96076	"" []	4403413	\N	\N	EFO	6	EFO	Chromosomal anomaly	Beckwith-Wiedemann syndrome due to 11p15 microduplication
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96076	"" []	6808247	\N	\N	EFO	10	EFO	material property	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96076	"" []	5419196	\N	\N	EFO	7	EFO	disease	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96076	"" []	5419197	\N	\N	EFO	7	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to 11p15 microduplication
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96076	"" []	7048863	\N	\N	EFO	11	EFO	experimental factor	Beckwith-Wiedemann syndrome due to 11p15 microduplication
Orphanet:96078	\N	\N	"" []	Orphanet:96078	"" []	78716	\N	\N	EFO	0	EFO	16p13.3 microduplication syndrome	16p13.3 microduplication syndrome
Orphanet:262794	Orphanet:96078	\N	"" []	Orphanet:96078	"" []	223642	\N	\N	EFO	1	EFO	Partial duplication of the short arm of chromosome 16	16p13.3 microduplication syndrome
Orphanet:262672	Orphanet:262794	\N	"" []	Orphanet:96078	"" []	580304	\N	\N	EFO	2	EFO	Partial duplication of chromosome 16	16p13.3 microduplication syndrome
Orphanet:98132	Orphanet:262672	\N	"" []	Orphanet:96078	"" []	1164183	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	16p13.3 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96078	"" []	2048009	\N	\N	EFO	4	EFO	Autosomal trisomy	16p13.3 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96078	"" []	3198059	\N	\N	EFO	5	EFO	Autosomal anomaly	16p13.3 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96078	"" []	4403414	\N	\N	EFO	6	EFO	Chromosomal anomaly	16p13.3 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96078	"" []	5419198	\N	\N	EFO	7	EFO	genetic disorder	16p13.3 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96078	"" []	6153482	\N	\N	EFO	8	EFO	disease	16p13.3 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96078	"" []	6634438	\N	\N	EFO	9	EFO	disposition	16p13.3 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96078	"" []	6926346	\N	\N	EFO	10	EFO	material property	16p13.3 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96078	"" []	7099349	\N	\N	EFO	11	EFO	experimental factor	16p13.3 microduplication syndrome
Orphanet:96092	\N	\N	"8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." []	Orphanet:96092	"8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." []	78717	\N	\N	EFO	0	EFO	8p inverted duplication/deletion syndrome	8p inverted duplication/deletion syndrome
Orphanet:263708	Orphanet:96092	\N	"" []	Orphanet:96092	"8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." []	223643	\N	\N	EFO	1	EFO	Complex chromosomal rearrangement	8p inverted duplication/deletion syndrome
Orphanet:98127	Orphanet:263708	\N	"" []	Orphanet:96092	"8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." []	580305	\N	\N	EFO	2	EFO	Autosomal anomaly	8p inverted duplication/deletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96092	"8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." []	1164184	\N	\N	EFO	3	EFO	Chromosomal anomaly	8p inverted duplication/deletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96092	"8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." []	2048010	\N	\N	EFO	4	EFO	genetic disorder	8p inverted duplication/deletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96092	"8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." []	3198060	\N	\N	EFO	5	EFO	disease	8p inverted duplication/deletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96092	"8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." []	4403415	\N	\N	EFO	6	EFO	disposition	8p inverted duplication/deletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96092	"8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." []	5419199	\N	\N	EFO	7	EFO	material property	8p inverted duplication/deletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96092	"8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." []	6153483	\N	\N	EFO	8	EFO	experimental factor	8p inverted duplication/deletion syndrome
Orphanet:96094	\N	\N	"" []	Orphanet:96094	"" []	78718	\N	\N	EFO	0	EFO	Distal trisomy 2q	Distal trisomy 2q
Orphanet:262842	Orphanet:96094	\N	"" []	Orphanet:96094	"" []	223644	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 2	Distal trisomy 2q
Orphanet:262196	Orphanet:262842	\N	"" []	Orphanet:96094	"" []	580306	\N	\N	EFO	2	EFO	Partial duplication of chromosome 2	Distal trisomy 2q
Orphanet:98132	Orphanet:262196	\N	"" []	Orphanet:96094	"" []	1164185	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 2q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96094	"" []	2048011	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 2q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96094	"" []	3198061	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 2q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96094	"" []	4403416	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 2q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96094	"" []	5419200	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 2q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96094	"" []	6153484	\N	\N	EFO	8	EFO	disease	Distal trisomy 2q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96094	"" []	6634439	\N	\N	EFO	9	EFO	disposition	Distal trisomy 2q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96094	"" []	6926347	\N	\N	EFO	10	EFO	material property	Distal trisomy 2q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96094	"" []	7099350	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 2q
Orphanet:96095	\N	\N	"" []	Orphanet:96095	"" []	78719	\N	\N	EFO	0	EFO	3q26 microduplication syndrome	3q26 microduplication syndrome
Orphanet:262851	Orphanet:96095	\N	"" []	Orphanet:96095	"" []	223645	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 3	3q26 microduplication syndrome
Orphanet:262201	Orphanet:262851	\N	"" []	Orphanet:96095	"" []	580307	\N	\N	EFO	2	EFO	Partial duplication of chromosome 3	3q26 microduplication syndrome
Orphanet:98132	Orphanet:262201	\N	"" []	Orphanet:96095	"" []	1164186	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	3q26 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96095	"" []	2048012	\N	\N	EFO	4	EFO	Autosomal trisomy	3q26 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96095	"" []	3198062	\N	\N	EFO	5	EFO	Autosomal anomaly	3q26 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96095	"" []	4403417	\N	\N	EFO	6	EFO	Chromosomal anomaly	3q26 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96095	"" []	5419201	\N	\N	EFO	7	EFO	genetic disorder	3q26 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96095	"" []	6153485	\N	\N	EFO	8	EFO	disease	3q26 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96095	"" []	6634440	\N	\N	EFO	9	EFO	disposition	3q26 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96095	"" []	6926348	\N	\N	EFO	10	EFO	material property	3q26 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96095	"" []	7099351	\N	\N	EFO	11	EFO	experimental factor	3q26 microduplication syndrome
Orphanet:96096	\N	\N	"" []	Orphanet:96096	"" []	78720	\N	\N	EFO	0	EFO	Distal trisomy 4q	Distal trisomy 4q
Orphanet:262860	Orphanet:96096	\N	"" []	Orphanet:96096	"" []	223646	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 4	Distal trisomy 4q
Orphanet:262206	Orphanet:262860	\N	"" []	Orphanet:96096	"" []	580308	\N	\N	EFO	2	EFO	Partial duplication of chromosome 4	Distal trisomy 4q
Orphanet:98132	Orphanet:262206	\N	"" []	Orphanet:96096	"" []	1164187	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 4q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96096	"" []	2048013	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 4q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96096	"" []	3198063	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 4q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96096	"" []	4403418	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 4q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96096	"" []	5419202	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 4q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96096	"" []	6153486	\N	\N	EFO	8	EFO	disease	Distal trisomy 4q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96096	"" []	6634441	\N	\N	EFO	9	EFO	disposition	Distal trisomy 4q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96096	"" []	6926349	\N	\N	EFO	10	EFO	material property	Distal trisomy 4q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96096	"" []	7099352	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 4q
Orphanet:96097	\N	\N	"" []	Orphanet:96097	"" []	78721	\N	\N	EFO	0	EFO	Distal trisomy 5q	Distal trisomy 5q
Orphanet:262869	Orphanet:96097	\N	"" []	Orphanet:96097	"" []	223647	\N	\N	EFO	1	EFO	Partial trisomy of the long arm of chromosome 5	Distal trisomy 5q
Orphanet:262211	Orphanet:262869	\N	"" []	Orphanet:96097	"" []	580309	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of chromosome 5	Distal trisomy 5q
Orphanet:98132	Orphanet:262211	\N	"" []	Orphanet:96097	"" []	1164188	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 5q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96097	"" []	2048014	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 5q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96097	"" []	3198064	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 5q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96097	"" []	4403419	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 5q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96097	"" []	5419203	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 5q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96097	"" []	6153487	\N	\N	EFO	8	EFO	disease	Distal trisomy 5q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96097	"" []	6634442	\N	\N	EFO	9	EFO	disposition	Distal trisomy 5q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96097	"" []	6926350	\N	\N	EFO	10	EFO	material property	Distal trisomy 5q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96097	"" []	7099353	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 5q
Orphanet:96098	\N	\N	"" []	Orphanet:96098	"" []	78722	\N	\N	EFO	0	EFO	Distal trisomy 6q	Distal trisomy 6q
Orphanet:262878	Orphanet:96098	\N	"" []	Orphanet:96098	"" []	223648	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 6	Distal trisomy 6q
Orphanet:262628	Orphanet:262878	\N	"" []	Orphanet:96098	"" []	580310	\N	\N	EFO	2	EFO	Partial duplication of chromosome 6	Distal trisomy 6q
Orphanet:98132	Orphanet:262628	\N	"" []	Orphanet:96098	"" []	1164189	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 6q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96098	"" []	2048015	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 6q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96098	"" []	3198065	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 6q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96098	"" []	4403420	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 6q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96098	"" []	5419204	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 6q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96098	"" []	6153488	\N	\N	EFO	8	EFO	disease	Distal trisomy 6q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96098	"" []	6634443	\N	\N	EFO	9	EFO	disposition	Distal trisomy 6q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96098	"" []	6926351	\N	\N	EFO	10	EFO	material property	Distal trisomy 6q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96098	"" []	7099354	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 6q
Orphanet:96100	\N	\N	"" []	Orphanet:96100	"" []	78723	\N	\N	EFO	0	EFO	Distal trisomy 8q	Distal trisomy 8q
Orphanet:262896	Orphanet:96100	\N	"" []	Orphanet:96100	"" []	223649	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 8	Distal trisomy 8q
Orphanet:262638	Orphanet:262896	\N	"" []	Orphanet:96100	"" []	580311	\N	\N	EFO	2	EFO	Partial duplication of chromosome 8	Distal trisomy 8q
Orphanet:98132	Orphanet:262638	\N	"" []	Orphanet:96100	"" []	1164190	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 8q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96100	"" []	2048016	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 8q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96100	"" []	3198066	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 8q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96100	"" []	4403421	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 8q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96100	"" []	5419205	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 8q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96100	"" []	6153489	\N	\N	EFO	8	EFO	disease	Distal trisomy 8q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96100	"" []	6634444	\N	\N	EFO	9	EFO	disposition	Distal trisomy 8q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96100	"" []	6926352	\N	\N	EFO	10	EFO	material property	Distal trisomy 8q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96100	"" []	7099355	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 8q
Orphanet:96101	\N	\N	"" []	Orphanet:96101	"" []	78724	\N	\N	EFO	0	EFO	Distal trisomy 9q	Distal trisomy 9q
Orphanet:262905	Orphanet:96101	\N	"" []	Orphanet:96101	"" []	223650	\N	\N	EFO	1	EFO	Partial trisomy of the long arm of chromosome 9	Distal trisomy 9q
Orphanet:262643	Orphanet:262905	\N	"" []	Orphanet:96101	"" []	580312	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of chromosome 9	Distal trisomy 9q
Orphanet:98132	Orphanet:262643	\N	"" []	Orphanet:96101	"" []	1164191	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 9q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96101	"" []	2048017	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 9q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96101	"" []	3198067	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 9q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96101	"" []	4403422	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 9q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96101	"" []	5419206	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 9q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96101	"" []	6153490	\N	\N	EFO	8	EFO	disease	Distal trisomy 9q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96101	"" []	6634445	\N	\N	EFO	9	EFO	disposition	Distal trisomy 9q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96101	"" []	6926353	\N	\N	EFO	10	EFO	material property	Distal trisomy 9q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96101	"" []	7099356	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 9q
Orphanet:96102	\N	\N	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	Orphanet:96102	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	78725	\N	\N	EFO	0	EFO	Distal trisomy 10q	Distal trisomy 10q
Orphanet:262914	Orphanet:96102	\N	"" []	Orphanet:96102	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	223651	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 10	Distal trisomy 10q
Orphanet:262648	Orphanet:262914	\N	"" []	Orphanet:96102	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	580313	\N	\N	EFO	2	EFO	Partial duplication of chromosome 10	Distal trisomy 10q
Orphanet:98132	Orphanet:262648	\N	"" []	Orphanet:96102	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	1164192	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 10q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96102	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	2048018	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 10q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96102	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	3198068	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 10q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96102	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	4403423	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 10q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96102	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	5419207	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 10q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96102	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	6153491	\N	\N	EFO	8	EFO	disease	Distal trisomy 10q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96102	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	6634446	\N	\N	EFO	9	EFO	disposition	Distal trisomy 10q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96102	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	6926354	\N	\N	EFO	10	EFO	material property	Distal trisomy 10q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96102	"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." []	7099357	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 10q
Orphanet:96103	\N	\N	"" []	Orphanet:96103	"" []	78726	\N	\N	EFO	0	EFO	Distal trisomy 11q	Distal trisomy 11q
Orphanet:262923	Orphanet:96103	\N	"" []	Orphanet:96103	"" []	223652	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 11	Distal trisomy 11q
Orphanet:262653	Orphanet:262923	\N	"" []	Orphanet:96103	"" []	580314	\N	\N	EFO	2	EFO	Partial duplication of chromosome 11	Distal trisomy 11q
Orphanet:98132	Orphanet:262653	\N	"" []	Orphanet:96103	"" []	1164193	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 11q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96103	"" []	2048019	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 11q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96103	"" []	3198069	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 11q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96103	"" []	4403424	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 11q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96103	"" []	5419208	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 11q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96103	"" []	6153492	\N	\N	EFO	8	EFO	disease	Distal trisomy 11q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96103	"" []	6634447	\N	\N	EFO	9	EFO	disposition	Distal trisomy 11q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96103	"" []	6926355	\N	\N	EFO	10	EFO	material property	Distal trisomy 11q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96103	"" []	7099358	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 11q
Orphanet:96105	\N	\N	"" []	Orphanet:96105	"" []	78727	\N	\N	EFO	0	EFO	Distal trisomy 13q	Distal trisomy 13q
Orphanet:262932	Orphanet:96105	\N	"" []	Orphanet:96105	"" []	223653	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 13	Distal trisomy 13q
Orphanet:98132	Orphanet:262932	\N	"" []	Orphanet:96105	"" []	580315	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 13q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96105	"" []	1164194	\N	\N	EFO	3	EFO	Autosomal trisomy	Distal trisomy 13q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96105	"" []	2048020	\N	\N	EFO	4	EFO	Autosomal anomaly	Distal trisomy 13q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96105	"" []	3198070	\N	\N	EFO	5	EFO	Chromosomal anomaly	Distal trisomy 13q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96105	"" []	4403425	\N	\N	EFO	6	EFO	genetic disorder	Distal trisomy 13q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96105	"" []	5419209	\N	\N	EFO	7	EFO	disease	Distal trisomy 13q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96105	"" []	6153493	\N	\N	EFO	8	EFO	disposition	Distal trisomy 13q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96105	"" []	6634448	\N	\N	EFO	9	EFO	material property	Distal trisomy 13q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96105	"" []	6926356	\N	\N	EFO	10	EFO	experimental factor	Distal trisomy 13q
Orphanet:96106	\N	\N	"" []	Orphanet:96106	"" []	78728	\N	\N	EFO	0	EFO	Distal trisomy 16q	Distal trisomy 16q
Orphanet:262959	Orphanet:96106	\N	"" []	Orphanet:96106	"" []	223654	\N	\N	EFO	1	EFO	Partial trisomy of the long arm of chromosome 16	Distal trisomy 16q
Orphanet:262672	Orphanet:262959	\N	"" []	Orphanet:96106	"" []	580316	\N	\N	EFO	2	EFO	Partial duplication of chromosome 16	Distal trisomy 16q
Orphanet:98132	Orphanet:262672	\N	"" []	Orphanet:96106	"" []	1164195	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 16q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96106	"" []	2048021	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 16q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96106	"" []	3198071	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 16q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96106	"" []	4403426	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 16q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96106	"" []	5419210	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 16q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96106	"" []	6153494	\N	\N	EFO	8	EFO	disease	Distal trisomy 16q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96106	"" []	6634449	\N	\N	EFO	9	EFO	disposition	Distal trisomy 16q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96106	"" []	6926357	\N	\N	EFO	10	EFO	material property	Distal trisomy 16q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96106	"" []	7099359	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 16q
Orphanet:96107	\N	\N	"" []	Orphanet:96107	"" []	78729	\N	\N	EFO	0	EFO	Distal trisomy 20q	Distal trisomy 20q
Orphanet:262995	Orphanet:96107	\N	"" []	Orphanet:96107	"" []	223655	\N	\N	EFO	1	EFO	Partial trisomy of the long arm of chromosome 20	Distal trisomy 20q
Orphanet:262692	Orphanet:262995	\N	"" []	Orphanet:96107	"" []	580317	\N	\N	EFO	2	EFO	Partial trisomy of chromosome 20	Distal trisomy 20q
Orphanet:98132	Orphanet:262692	\N	"" []	Orphanet:96107	"" []	1164196	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 20q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96107	"" []	2048022	\N	\N	EFO	4	EFO	Autosomal trisomy	Distal trisomy 20q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96107	"" []	3198072	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal trisomy 20q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96107	"" []	4403427	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal trisomy 20q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96107	"" []	5419211	\N	\N	EFO	7	EFO	genetic disorder	Distal trisomy 20q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96107	"" []	6153495	\N	\N	EFO	8	EFO	disease	Distal trisomy 20q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96107	"" []	6634450	\N	\N	EFO	9	EFO	disposition	Distal trisomy 20q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96107	"" []	6926358	\N	\N	EFO	10	EFO	material property	Distal trisomy 20q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96107	"" []	7099360	\N	\N	EFO	11	EFO	experimental factor	Distal trisomy 20q
Orphanet:96109	\N	\N	"" []	Orphanet:96109	"" []	78730	\N	\N	EFO	0	EFO	Distal trisomy 22q	Distal trisomy 22q
Orphanet:263004	Orphanet:96109	\N	"" []	Orphanet:96109	"" []	223656	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 22	Distal trisomy 22q
Orphanet:98132	Orphanet:263004	\N	"" []	Orphanet:96109	"" []	580318	\N	\N	EFO	2	EFO	Partial autosomal trisomy/tetrasomy	Distal trisomy 22q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96109	"" []	1164197	\N	\N	EFO	3	EFO	Autosomal trisomy	Distal trisomy 22q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96109	"" []	2048023	\N	\N	EFO	4	EFO	Autosomal anomaly	Distal trisomy 22q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96109	"" []	3198073	\N	\N	EFO	5	EFO	Chromosomal anomaly	Distal trisomy 22q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96109	"" []	4403428	\N	\N	EFO	6	EFO	genetic disorder	Distal trisomy 22q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96109	"" []	5419212	\N	\N	EFO	7	EFO	disease	Distal trisomy 22q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96109	"" []	6153496	\N	\N	EFO	8	EFO	disposition	Distal trisomy 22q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96109	"" []	6634451	\N	\N	EFO	9	EFO	material property	Distal trisomy 22q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96109	"" []	6926359	\N	\N	EFO	10	EFO	experimental factor	Distal trisomy 22q
Orphanet:96112	\N	\N	"" []	Orphanet:96112	"" []	78731	\N	\N	EFO	0	EFO	Non-distal trisomy 9q	Non-distal trisomy 9q
Orphanet:262905	Orphanet:96112	\N	"" []	Orphanet:96112	"" []	223657	\N	\N	EFO	1	EFO	Partial trisomy of the long arm of chromosome 9	Non-distal trisomy 9q
Orphanet:262643	Orphanet:262905	\N	"" []	Orphanet:96112	"" []	580319	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of chromosome 9	Non-distal trisomy 9q
Orphanet:98132	Orphanet:262643	\N	"" []	Orphanet:96112	"" []	1164198	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Non-distal trisomy 9q
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96112	"" []	2048024	\N	\N	EFO	4	EFO	Autosomal trisomy	Non-distal trisomy 9q
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96112	"" []	3198074	\N	\N	EFO	5	EFO	Autosomal anomaly	Non-distal trisomy 9q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96112	"" []	4403429	\N	\N	EFO	6	EFO	Chromosomal anomaly	Non-distal trisomy 9q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96112	"" []	5419213	\N	\N	EFO	7	EFO	genetic disorder	Non-distal trisomy 9q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96112	"" []	6153497	\N	\N	EFO	8	EFO	disease	Non-distal trisomy 9q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96112	"" []	6634452	\N	\N	EFO	9	EFO	disposition	Non-distal trisomy 9q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96112	"" []	6926360	\N	\N	EFO	10	EFO	material property	Non-distal trisomy 9q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96112	"" []	7099361	\N	\N	EFO	11	EFO	experimental factor	Non-distal trisomy 9q
Orphanet:96121	\N	\N	"" []	Orphanet:96121	"" []	78732	\N	\N	EFO	0	EFO	7q11.23 microduplication syndrome	7q11.23 microduplication syndrome
Orphanet:262887	Orphanet:96121	\N	"" []	Orphanet:96121	"" []	223658	\N	\N	EFO	1	EFO	Partial duplication of the long arm of chromosome 7	7q11.23 microduplication syndrome
Orphanet:262633	Orphanet:262887	\N	"" []	Orphanet:96121	"" []	580320	\N	\N	EFO	2	EFO	Partial duplication of chromosome 7	7q11.23 microduplication syndrome
Orphanet:98132	Orphanet:262633	\N	"" []	Orphanet:96121	"" []	1164199	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	7q11.23 microduplication syndrome
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:96121	"" []	2048025	\N	\N	EFO	4	EFO	Autosomal trisomy	7q11.23 microduplication syndrome
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:96121	"" []	3198075	\N	\N	EFO	5	EFO	Autosomal anomaly	7q11.23 microduplication syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96121	"" []	4403430	\N	\N	EFO	6	EFO	Chromosomal anomaly	7q11.23 microduplication syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96121	"" []	5419214	\N	\N	EFO	7	EFO	genetic disorder	7q11.23 microduplication syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96121	"" []	6153498	\N	\N	EFO	8	EFO	disease	7q11.23 microduplication syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96121	"" []	6634453	\N	\N	EFO	9	EFO	disposition	7q11.23 microduplication syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96121	"" []	6926361	\N	\N	EFO	10	EFO	material property	7q11.23 microduplication syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96121	"" []	7099362	\N	\N	EFO	11	EFO	experimental factor	7q11.23 microduplication syndrome
Orphanet:96123	\N	\N	"" []	Orphanet:96123	"" []	78733	\N	\N	EFO	0	EFO	Monosomy 22	Monosomy 22
Orphanet:98141	Orphanet:96123	\N	"" []	Orphanet:96123	"" []	223659	\N	\N	EFO	1	EFO	Total autosomal monosomy	Monosomy 22
Orphanet:102020	Orphanet:98141	\N	"" []	Orphanet:96123	"" []	580321	\N	\N	EFO	2	EFO	Autosomal monosomy	Monosomy 22
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96123	"" []	1164200	\N	\N	EFO	3	EFO	Autosomal anomaly	Monosomy 22
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96123	"" []	2048026	\N	\N	EFO	4	EFO	Chromosomal anomaly	Monosomy 22
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96123	"" []	3198076	\N	\N	EFO	5	EFO	genetic disorder	Monosomy 22
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96123	"" []	4403431	\N	\N	EFO	6	EFO	disease	Monosomy 22
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96123	"" []	5419215	\N	\N	EFO	7	EFO	disposition	Monosomy 22
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96123	"" []	6153499	\N	\N	EFO	8	EFO	material property	Monosomy 22
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96123	"" []	6634454	\N	\N	EFO	9	EFO	experimental factor	Monosomy 22
Orphanet:96125	\N	\N	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	78734	\N	\N	EFO	0	EFO	Distal monosomy 6p	Distal monosomy 6p
Orphanet:102283	Orphanet:96125	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	223660	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Distal monosomy 6p
Orphanet:261902	Orphanet:96125	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	223661	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 6	Distal monosomy 6p
Orphanet:98634	Orphanet:96125	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	223662	\N	\N	EFO	1	EFO	Iridogoniodysgenesis	Distal monosomy 6p
Orphanet:98638	Orphanet:96125	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	223663	\N	\N	EFO	1	EFO	Rare disease with glaucoma as a major feature	Distal monosomy 6p
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	580322	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Distal monosomy 6p
Orphanet:261791	Orphanet:261902	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	580323	\N	\N	EFO	2	EFO	Partial deletion of chromosome 6	Distal monosomy 6p
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	580324	\N	\N	EFO	2	EFO	Glaucoma associated with neural crest cell migration anomaly	Distal monosomy 6p
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	580325	\N	\N	EFO	2	EFO	Rare genetic eye disease	Distal monosomy 6p
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	1164201	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Distal monosomy 6p
Orphanet:98142	Orphanet:261791	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	1164202	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 6p
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	1164203	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Distal monosomy 6p
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	6153501	\N	\N	EFO	8	EFO	genetic disorder	Distal monosomy 6p
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	6153502	\N	\N	EFO	8	EFO	eye disease	Distal monosomy 6p
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	6153503	\N	\N	EFO	8	EFO	genetic disorder	Distal monosomy 6p
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	2048028	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 6p
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	2048029	\N	\N	EFO	4	EFO	Hereditary glaucoma	Distal monosomy 6p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	6370844	\N	\N	EFO	9	EFO	disease	Distal monosomy 6p
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	6370845	\N	\N	EFO	9	EFO	disease	Distal monosomy 6p
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	3198078	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 6p
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	3198079	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Distal monosomy 6p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	6762410	\N	\N	EFO	10	EFO	disposition	Distal monosomy 6p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	4403432	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 6p
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	4403433	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Distal monosomy 6p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	7015723	\N	\N	EFO	11	EFO	material property	Distal monosomy 6p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	5419216	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 6p
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	5419217	\N	\N	EFO	7	EFO	Rare genetic eye disease	Distal monosomy 6p
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	5419218	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Distal monosomy 6p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96125	"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." []	7173668	\N	\N	EFO	12	EFO	experimental factor	Distal monosomy 6p
Orphanet:96126	\N	\N	"" []	Orphanet:96126	"" []	78735	\N	\N	EFO	0	EFO	Distal monosomy 7p	Distal monosomy 7p
Orphanet:261911	Orphanet:96126	\N	"" []	Orphanet:96126	"" []	223664	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 7	Distal monosomy 7p
Orphanet:261796	Orphanet:261911	\N	"" []	Orphanet:96126	"" []	580326	\N	\N	EFO	2	EFO	Partial deletion of chromosome 7	Distal monosomy 7p
Orphanet:98142	Orphanet:261796	\N	"" []	Orphanet:96126	"" []	1164206	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 7p
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96126	"" []	2048032	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 7p
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96126	"" []	3198081	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 7p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96126	"" []	4403435	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 7p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96126	"" []	5419220	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 7p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96126	"" []	6153504	\N	\N	EFO	8	EFO	disease	Distal monosomy 7p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96126	"" []	6634455	\N	\N	EFO	9	EFO	disposition	Distal monosomy 7p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96126	"" []	6926362	\N	\N	EFO	10	EFO	material property	Distal monosomy 7p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96126	"" []	7099363	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 7p
Orphanet:96129	\N	\N	"" []	Orphanet:96129	"" []	78736	\N	\N	EFO	0	EFO	Distal monosomy 19p13.3	Distal monosomy 19p13.3
Orphanet:261983	Orphanet:96129	\N	"" []	Orphanet:96129	"" []	223665	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 19	Distal monosomy 19p13.3
Orphanet:261841	Orphanet:261983	\N	"" []	Orphanet:96129	"" []	580327	\N	\N	EFO	2	EFO	Partial deletion of chromosome 19	Distal monosomy 19p13.3
Orphanet:98142	Orphanet:261841	\N	"" []	Orphanet:96129	"" []	1164207	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 19p13.3
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96129	"" []	2048033	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 19p13.3
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96129	"" []	3198082	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 19p13.3
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96129	"" []	4403436	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 19p13.3
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96129	"" []	5419221	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 19p13.3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96129	"" []	6153505	\N	\N	EFO	8	EFO	disease	Distal monosomy 19p13.3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96129	"" []	6634456	\N	\N	EFO	9	EFO	disposition	Distal monosomy 19p13.3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96129	"" []	6926363	\N	\N	EFO	10	EFO	material property	Distal monosomy 19p13.3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96129	"" []	7099364	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 19p13.3
Orphanet:96136	\N	\N	"" []	Orphanet:96136	"" []	78737	\N	\N	EFO	0	EFO	Non-distal monosomy 7p	Non-distal monosomy 7p
Orphanet:261911	Orphanet:96136	\N	"" []	Orphanet:96136	"" []	223666	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 7	Non-distal monosomy 7p
Orphanet:261796	Orphanet:261911	\N	"" []	Orphanet:96136	"" []	580328	\N	\N	EFO	2	EFO	Partial deletion of chromosome 7	Non-distal monosomy 7p
Orphanet:98142	Orphanet:261796	\N	"" []	Orphanet:96136	"" []	1164208	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Non-distal monosomy 7p
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96136	"" []	2048034	\N	\N	EFO	4	EFO	Autosomal monosomy	Non-distal monosomy 7p
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96136	"" []	3198083	\N	\N	EFO	5	EFO	Autosomal anomaly	Non-distal monosomy 7p
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96136	"" []	4403437	\N	\N	EFO	6	EFO	Chromosomal anomaly	Non-distal monosomy 7p
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96136	"" []	5419222	\N	\N	EFO	7	EFO	genetic disorder	Non-distal monosomy 7p
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96136	"" []	6153506	\N	\N	EFO	8	EFO	disease	Non-distal monosomy 7p
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96136	"" []	6634457	\N	\N	EFO	9	EFO	disposition	Non-distal monosomy 7p
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96136	"" []	6926364	\N	\N	EFO	10	EFO	material property	Non-distal monosomy 7p
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96136	"" []	7099365	\N	\N	EFO	11	EFO	experimental factor	Non-distal monosomy 7p
Orphanet:96145	\N	\N	"" []	Orphanet:96145	"" []	78738	\N	\N	EFO	0	EFO	Distal monosomy 4q	Distal monosomy 4q
Orphanet:262029	Orphanet:96145	\N	"" []	Orphanet:96145	"" []	223667	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 4	Distal monosomy 4q
Orphanet:261781	Orphanet:262029	\N	"" []	Orphanet:96145	"" []	580329	\N	\N	EFO	2	EFO	Partial deletion of chromosome 4	Distal monosomy 4q
Orphanet:98142	Orphanet:261781	\N	"" []	Orphanet:96145	"" []	1164209	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 4q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96145	"" []	2048035	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 4q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96145	"" []	3198084	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 4q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96145	"" []	4403438	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 4q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96145	"" []	5419223	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 4q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96145	"" []	6153507	\N	\N	EFO	8	EFO	disease	Distal monosomy 4q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96145	"" []	6634458	\N	\N	EFO	9	EFO	disposition	Distal monosomy 4q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96145	"" []	6926365	\N	\N	EFO	10	EFO	material property	Distal monosomy 4q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96145	"" []	7099366	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 4q
Orphanet:96147	\N	\N	"" []	Orphanet:96147	"" []	78739	\N	\N	EFO	0	EFO	Kleefstra syndrome due to 9q34 microdeletion	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:261494	Orphanet:96147	\N	"Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." []	Orphanet:96147	"" []	223668	\N	\N	EFO	1	EFO	Kleefstra syndrome	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:262074	Orphanet:96147	\N	"" []	Orphanet:96147	"" []	223669	\N	\N	EFO	1	EFO	Partial monosomy of the long arm of chromosome 9	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:102283	Orphanet:261494	\N	"" []	Orphanet:96147	"" []	580330	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:183763	Orphanet:261494	\N	"" []	Orphanet:96147	"" []	580331	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:261806	Orphanet:262074	\N	"" []	Orphanet:96147	"" []	580332	\N	\N	EFO	2	EFO	Partial deletion of chromosome 9	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:96147	"" []	1164210	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:96147	"" []	1164211	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:98142	Orphanet:261806	\N	"" []	Orphanet:96147	"" []	1164212	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:96147	"" []	2048036	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:96147	"" []	2048037	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96147	"" []	2048038	\N	\N	EFO	4	EFO	Autosomal monosomy	Kleefstra syndrome due to 9q34 microdeletion
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96147	"" []	3198085	\N	\N	EFO	5	EFO	genetic disorder	Kleefstra syndrome due to 9q34 microdeletion
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96147	"" []	3198086	\N	\N	EFO	5	EFO	genetic disorder	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96147	"" []	3198087	\N	\N	EFO	5	EFO	Autosomal anomaly	Kleefstra syndrome due to 9q34 microdeletion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96147	"" []	6153509	\N	\N	EFO	8	EFO	disease	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96147	"" []	4403440	\N	\N	EFO	6	EFO	Chromosomal anomaly	Kleefstra syndrome due to 9q34 microdeletion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96147	"" []	6471116	\N	\N	EFO	9	EFO	disposition	Kleefstra syndrome due to 9q34 microdeletion
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96147	"" []	5419225	\N	\N	EFO	7	EFO	genetic disorder	Kleefstra syndrome due to 9q34 microdeletion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96147	"" []	6848914	\N	\N	EFO	10	EFO	material property	Kleefstra syndrome due to 9q34 microdeletion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96147	"" []	7068557	\N	\N	EFO	11	EFO	experimental factor	Kleefstra syndrome due to 9q34 microdeletion
Orphanet:96148	\N	\N	"" []	Orphanet:96148	"" []	78740	\N	\N	EFO	0	EFO	Distal monosomy 10q	Distal monosomy 10q
Orphanet:262083	Orphanet:96148	\N	"" []	Orphanet:96148	"" []	223670	\N	\N	EFO	1	EFO	Partial monosomy of the long arm of chromosome 10	Distal monosomy 10q
Orphanet:261811	Orphanet:262083	\N	"" []	Orphanet:96148	"" []	580333	\N	\N	EFO	2	EFO	Partial deletion of chromosome 10	Distal monosomy 10q
Orphanet:98142	Orphanet:261811	\N	"" []	Orphanet:96148	"" []	1164213	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 10q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96148	"" []	2048039	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 10q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96148	"" []	3198088	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 10q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96148	"" []	4403441	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 10q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96148	"" []	5419226	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 10q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96148	"" []	6153510	\N	\N	EFO	8	EFO	disease	Distal monosomy 10q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96148	"" []	6634460	\N	\N	EFO	9	EFO	disposition	Distal monosomy 10q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96148	"" []	6926366	\N	\N	EFO	10	EFO	material property	Distal monosomy 10q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96148	"" []	7099367	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 10q
Orphanet:96149	\N	\N	"" []	Orphanet:96149	"" []	78741	\N	\N	EFO	0	EFO	Distal monosomy 12q	Distal monosomy 12q
Orphanet:261821	Orphanet:96149	\N	"" []	Orphanet:96149	"" []	223671	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 12	Distal monosomy 12q
Orphanet:282124	Orphanet:261821	\N	"" []	Orphanet:96149	"" []	580334	\N	\N	EFO	2	EFO	Partial deletion of chromosome 12	Distal monosomy 12q
Orphanet:98142	Orphanet:282124	\N	"" []	Orphanet:96149	"" []	1164214	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 12q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96149	"" []	2048040	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 12q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96149	"" []	3198089	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 12q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96149	"" []	4403442	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 12q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96149	"" []	5419227	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 12q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96149	"" []	6153511	\N	\N	EFO	8	EFO	disease	Distal monosomy 12q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96149	"" []	6634461	\N	\N	EFO	9	EFO	disposition	Distal monosomy 12q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96149	"" []	6926367	\N	\N	EFO	10	EFO	material property	Distal monosomy 12q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96149	"" []	7099368	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 12q
Orphanet:96150	\N	\N	"" []	Orphanet:96150	"" []	78742	\N	\N	EFO	0	EFO	Distal monosomy 14q	Distal monosomy 14q
Orphanet:262110	Orphanet:96150	\N	"" []	Orphanet:96150	"" []	223672	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 14	Distal monosomy 14q
Orphanet:98142	Orphanet:262110	\N	"" []	Orphanet:96150	"" []	580335	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Distal monosomy 14q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96150	"" []	1164215	\N	\N	EFO	3	EFO	Autosomal monosomy	Distal monosomy 14q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96150	"" []	2048041	\N	\N	EFO	4	EFO	Autosomal anomaly	Distal monosomy 14q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96150	"" []	3198090	\N	\N	EFO	5	EFO	Chromosomal anomaly	Distal monosomy 14q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96150	"" []	4403443	\N	\N	EFO	6	EFO	genetic disorder	Distal monosomy 14q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96150	"" []	5419228	\N	\N	EFO	7	EFO	disease	Distal monosomy 14q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96150	"" []	6153512	\N	\N	EFO	8	EFO	disposition	Distal monosomy 14q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96150	"" []	6634462	\N	\N	EFO	9	EFO	material property	Distal monosomy 14q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96150	"" []	6926368	\N	\N	EFO	10	EFO	experimental factor	Distal monosomy 14q
Orphanet:96152	\N	\N	"" []	Orphanet:96152	"" []	78743	\N	\N	EFO	0	EFO	Distal monosomy 20q	Distal monosomy 20q
Orphanet:262164	Orphanet:96152	\N	"" []	Orphanet:96152	"" []	223673	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 20	Distal monosomy 20q
Orphanet:261846	Orphanet:262164	\N	"" []	Orphanet:96152	"" []	580336	\N	\N	EFO	2	EFO	Partial deletion of chromosome 20	Distal monosomy 20q
Orphanet:98142	Orphanet:261846	\N	"" []	Orphanet:96152	"" []	1164216	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Distal monosomy 20q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96152	"" []	2048042	\N	\N	EFO	4	EFO	Autosomal monosomy	Distal monosomy 20q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96152	"" []	3198091	\N	\N	EFO	5	EFO	Autosomal anomaly	Distal monosomy 20q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96152	"" []	4403444	\N	\N	EFO	6	EFO	Chromosomal anomaly	Distal monosomy 20q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96152	"" []	5419229	\N	\N	EFO	7	EFO	genetic disorder	Distal monosomy 20q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96152	"" []	6153513	\N	\N	EFO	8	EFO	disease	Distal monosomy 20q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96152	"" []	6634463	\N	\N	EFO	9	EFO	disposition	Distal monosomy 20q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96152	"" []	6926369	\N	\N	EFO	10	EFO	material property	Distal monosomy 20q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96152	"" []	7099369	\N	\N	EFO	11	EFO	experimental factor	Distal monosomy 20q
Orphanet:96160	\N	\N	"" []	Orphanet:96160	"" []	78744	\N	\N	EFO	0	EFO	Non-distal monosomy 12q	Non-distal monosomy 12q
Orphanet:261821	Orphanet:96160	\N	"" []	Orphanet:96160	"" []	223674	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 12	Non-distal monosomy 12q
Orphanet:282124	Orphanet:261821	\N	"" []	Orphanet:96160	"" []	580337	\N	\N	EFO	2	EFO	Partial deletion of chromosome 12	Non-distal monosomy 12q
Orphanet:98142	Orphanet:282124	\N	"" []	Orphanet:96160	"" []	1164217	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Non-distal monosomy 12q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96160	"" []	2048043	\N	\N	EFO	4	EFO	Autosomal monosomy	Non-distal monosomy 12q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96160	"" []	3198092	\N	\N	EFO	5	EFO	Autosomal anomaly	Non-distal monosomy 12q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96160	"" []	4403445	\N	\N	EFO	6	EFO	Chromosomal anomaly	Non-distal monosomy 12q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96160	"" []	5419230	\N	\N	EFO	7	EFO	genetic disorder	Non-distal monosomy 12q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96160	"" []	6153514	\N	\N	EFO	8	EFO	disease	Non-distal monosomy 12q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96160	"" []	6634464	\N	\N	EFO	9	EFO	disposition	Non-distal monosomy 12q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96160	"" []	6926370	\N	\N	EFO	10	EFO	material property	Non-distal monosomy 12q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96160	"" []	7099370	\N	\N	EFO	11	EFO	experimental factor	Non-distal monosomy 12q
Orphanet:96164	\N	\N	"" []	Orphanet:96164	"" []	78745	\N	\N	EFO	0	EFO	Non-distal monosomy 20q	Non-distal monosomy 20q
Orphanet:262164	Orphanet:96164	\N	"" []	Orphanet:96164	"" []	223675	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 20	Non-distal monosomy 20q
Orphanet:261846	Orphanet:262164	\N	"" []	Orphanet:96164	"" []	580338	\N	\N	EFO	2	EFO	Partial deletion of chromosome 20	Non-distal monosomy 20q
Orphanet:98142	Orphanet:261846	\N	"" []	Orphanet:96164	"" []	1164218	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Non-distal monosomy 20q
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96164	"" []	2048044	\N	\N	EFO	4	EFO	Autosomal monosomy	Non-distal monosomy 20q
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96164	"" []	3198093	\N	\N	EFO	5	EFO	Autosomal anomaly	Non-distal monosomy 20q
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96164	"" []	4403446	\N	\N	EFO	6	EFO	Chromosomal anomaly	Non-distal monosomy 20q
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96164	"" []	5419231	\N	\N	EFO	7	EFO	genetic disorder	Non-distal monosomy 20q
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96164	"" []	6153515	\N	\N	EFO	8	EFO	disease	Non-distal monosomy 20q
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96164	"" []	6634465	\N	\N	EFO	9	EFO	disposition	Non-distal monosomy 20q
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96164	"" []	6926371	\N	\N	EFO	10	EFO	material property	Non-distal monosomy 20q
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96164	"" []	7099371	\N	\N	EFO	11	EFO	experimental factor	Non-distal monosomy 20q
Orphanet:96167	\N	\N	"Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." []	Orphanet:96167	"Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." []	78746	\N	\N	EFO	0	EFO	Recombinant 8 syndrome	Recombinant 8 syndrome
Orphanet:263708	Orphanet:96167	\N	"" []	Orphanet:96167	"Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." []	223676	\N	\N	EFO	1	EFO	Complex chromosomal rearrangement	Recombinant 8 syndrome
Orphanet:98127	Orphanet:263708	\N	"" []	Orphanet:96167	"Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." []	580339	\N	\N	EFO	2	EFO	Autosomal anomaly	Recombinant 8 syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96167	"Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." []	1164219	\N	\N	EFO	3	EFO	Chromosomal anomaly	Recombinant 8 syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96167	"Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." []	2048045	\N	\N	EFO	4	EFO	genetic disorder	Recombinant 8 syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96167	"Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." []	3198094	\N	\N	EFO	5	EFO	disease	Recombinant 8 syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96167	"Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." []	4403447	\N	\N	EFO	6	EFO	disposition	Recombinant 8 syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96167	"Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." []	5419232	\N	\N	EFO	7	EFO	material property	Recombinant 8 syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96167	"Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." []	6153516	\N	\N	EFO	8	EFO	experimental factor	Recombinant 8 syndrome
Orphanet:96168	\N	\N	"" []	Orphanet:96168	"" []	78747	\N	\N	EFO	0	EFO	Monosomy 13q34	Monosomy 13q34
Orphanet:117573	Orphanet:96168	\N	"" []	Orphanet:96168	"" []	223677	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Monosomy 13q34
Orphanet:262101	Orphanet:96168	\N	"" []	Orphanet:96168	"" []	223678	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 13	Monosomy 13q34
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:96168	"" []	580340	\N	\N	EFO	2	EFO	Anorectal malformation	Monosomy 13q34
Orphanet:98142	Orphanet:262101	\N	"" []	Orphanet:96168	"" []	580341	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Monosomy 13q34
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:96168	"" []	1164220	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Monosomy 13q34
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:96168	"" []	1164221	\N	\N	EFO	3	EFO	Autosomal monosomy	Monosomy 13q34
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:96168	"" []	2048046	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Monosomy 13q34
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96168	"" []	2048047	\N	\N	EFO	4	EFO	Autosomal anomaly	Monosomy 13q34
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96168	"" []	3198095	\N	\N	EFO	5	EFO	genetic disorder	Monosomy 13q34
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96168	"" []	3198096	\N	\N	EFO	5	EFO	Chromosomal anomaly	Monosomy 13q34
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96168	"" []	5419234	\N	\N	EFO	7	EFO	disease	Monosomy 13q34
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96168	"" []	4403449	\N	\N	EFO	6	EFO	genetic disorder	Monosomy 13q34
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96168	"" []	5999039	\N	\N	EFO	8	EFO	disposition	Monosomy 13q34
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96168	"" []	6552016	\N	\N	EFO	9	EFO	material property	Monosomy 13q34
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96168	"" []	6889623	\N	\N	EFO	10	EFO	experimental factor	Monosomy 13q34
Orphanet:96169	\N	\N	"Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." []	Orphanet:96169	"Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." []	78748	\N	\N	EFO	0	EFO	Koolen-De Vries syndrome	Koolen-De Vries syndrome
Orphanet:102283	Orphanet:96169	\N	"" []	Orphanet:96169	"Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." []	223679	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Koolen-De Vries syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:96169	"Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." []	580342	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Koolen-De Vries syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:96169	"Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." []	1164222	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Koolen-De Vries syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96169	"Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." []	2048048	\N	\N	EFO	4	EFO	genetic disorder	Koolen-De Vries syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96169	"Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." []	3198097	\N	\N	EFO	5	EFO	disease	Koolen-De Vries syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96169	"Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." []	4403450	\N	\N	EFO	6	EFO	disposition	Koolen-De Vries syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96169	"Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." []	5419235	\N	\N	EFO	7	EFO	material property	Koolen-De Vries syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96169	"Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." []	6153518	\N	\N	EFO	8	EFO	experimental factor	Koolen-De Vries syndrome
Orphanet:96170	\N	\N	"Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities." []	Orphanet:96170	"Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities." []	78749	\N	\N	EFO	0	EFO	Emanuel syndrome	Emanuel syndrome
Orphanet:263708	Orphanet:96170	\N	"" []	Orphanet:96170	"Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities." []	223680	\N	\N	EFO	1	EFO	Complex chromosomal rearrangement	Emanuel syndrome
Orphanet:98127	Orphanet:263708	\N	"" []	Orphanet:96170	"Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities." []	580343	\N	\N	EFO	2	EFO	Autosomal anomaly	Emanuel syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96170	"Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities." []	1164223	\N	\N	EFO	3	EFO	Chromosomal anomaly	Emanuel syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96170	"Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities." []	2048049	\N	\N	EFO	4	EFO	genetic disorder	Emanuel syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96170	"Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities." []	3198098	\N	\N	EFO	5	EFO	disease	Emanuel syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96170	"Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities." []	4403451	\N	\N	EFO	6	EFO	disposition	Emanuel syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96170	"Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities." []	5419236	\N	\N	EFO	7	EFO	material property	Emanuel syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96170	"Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities." []	6153519	\N	\N	EFO	8	EFO	experimental factor	Emanuel syndrome
Orphanet:96171	\N	\N	"" []	Orphanet:96171	"" []	78750	\N	\N	EFO	0	EFO	Ring chromosome 2	Ring chromosome 2
Orphanet:363203	Orphanet:96171	\N	"" []	Orphanet:96171	"" []	223681	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 2
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:96171	"" []	580344	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 2
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96171	"" []	1164224	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 2
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96171	"" []	2048050	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 2
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96171	"" []	3198099	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96171	"" []	4403452	\N	\N	EFO	6	EFO	disease	Ring chromosome 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96171	"" []	5419237	\N	\N	EFO	7	EFO	disposition	Ring chromosome 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96171	"" []	6153520	\N	\N	EFO	8	EFO	material property	Ring chromosome 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96171	"" []	6634467	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 2
Orphanet:96172	\N	\N	"" []	Orphanet:96172	"" []	78751	\N	\N	EFO	0	EFO	Ring chromosome 3	Ring chromosome 3
Orphanet:363203	Orphanet:96172	\N	"" []	Orphanet:96172	"" []	223682	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 3
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:96172	"" []	580345	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 3
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96172	"" []	1164225	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 3
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96172	"" []	2048051	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 3
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96172	"" []	3198100	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96172	"" []	4403453	\N	\N	EFO	6	EFO	disease	Ring chromosome 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96172	"" []	5419238	\N	\N	EFO	7	EFO	disposition	Ring chromosome 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96172	"" []	6153521	\N	\N	EFO	8	EFO	material property	Ring chromosome 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96172	"" []	6634468	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 3
Orphanet:96173	\N	\N	"" []	Orphanet:96173	"" []	78752	\N	\N	EFO	0	EFO	Ring chromosome 9	Ring chromosome 9
Orphanet:363203	Orphanet:96173	\N	"" []	Orphanet:96173	"" []	223683	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 9
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:96173	"" []	580346	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 9
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96173	"" []	1164226	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 9
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96173	"" []	2048052	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 9
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96173	"" []	3198101	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96173	"" []	4403454	\N	\N	EFO	6	EFO	disease	Ring chromosome 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96173	"" []	5419239	\N	\N	EFO	7	EFO	disposition	Ring chromosome 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96173	"" []	6153522	\N	\N	EFO	8	EFO	material property	Ring chromosome 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96173	"" []	6634469	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 9
Orphanet:96175	\N	\N	"" []	Orphanet:96175	"" []	78753	\N	\N	EFO	0	EFO	Ring chromosome 11	Ring chromosome 11
Orphanet:363203	Orphanet:96175	\N	"" []	Orphanet:96175	"" []	223684	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 11
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:96175	"" []	580347	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 11
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96175	"" []	1164227	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 11
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96175	"" []	2048053	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 11
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96175	"" []	3198102	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96175	"" []	4403455	\N	\N	EFO	6	EFO	disease	Ring chromosome 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96175	"" []	5419240	\N	\N	EFO	7	EFO	disposition	Ring chromosome 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96175	"" []	6153523	\N	\N	EFO	8	EFO	material property	Ring chromosome 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96175	"" []	6634470	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 11
Orphanet:96176	\N	\N	"" []	Orphanet:96176	"" []	78754	\N	\N	EFO	0	EFO	Ring chromosome 13	Ring chromosome 13
Orphanet:117573	Orphanet:96176	\N	"" []	Orphanet:96176	"" []	223685	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Ring chromosome 13
Orphanet:363203	Orphanet:96176	\N	"" []	Orphanet:96176	"" []	223686	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 13
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:96176	"" []	580348	\N	\N	EFO	2	EFO	Anorectal malformation	Ring chromosome 13
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:96176	"" []	580349	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 13
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:96176	"" []	1164228	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Ring chromosome 13
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96176	"" []	1164229	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 13
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:96176	"" []	2048054	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ring chromosome 13
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96176	"" []	2048055	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 13
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96176	"" []	3198103	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 13
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96176	"" []	3198104	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 13
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96176	"" []	4403456	\N	\N	EFO	6	EFO	disease	Ring chromosome 13
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96176	"" []	5419241	\N	\N	EFO	7	EFO	disposition	Ring chromosome 13
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96176	"" []	6153524	\N	\N	EFO	8	EFO	material property	Ring chromosome 13
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96176	"" []	6634471	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 13
Orphanet:96177	\N	\N	"" []	Orphanet:96177	"" []	78755	\N	\N	EFO	0	EFO	Ring chromosome 15	Ring chromosome 15
Orphanet:363203	Orphanet:96177	\N	"" []	Orphanet:96177	"" []	223687	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 15
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:96177	"" []	580350	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 15
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96177	"" []	1164230	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 15
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96177	"" []	2048056	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 15
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96177	"" []	3198105	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 15
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96177	"" []	4403457	\N	\N	EFO	6	EFO	disease	Ring chromosome 15
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96177	"" []	5419242	\N	\N	EFO	7	EFO	disposition	Ring chromosome 15
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96177	"" []	6153525	\N	\N	EFO	8	EFO	material property	Ring chromosome 15
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96177	"" []	6634472	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 15
Orphanet:96178	\N	\N	"" []	Orphanet:96178	"" []	78756	\N	\N	EFO	0	EFO	Ring chromosome 16	Ring chromosome 16
Orphanet:363203	Orphanet:96178	\N	"" []	Orphanet:96178	"" []	223688	\N	\N	EFO	1	EFO	Ring chromosome	Ring chromosome 16
Orphanet:102020	Orphanet:363203	\N	"" []	Orphanet:96178	"" []	580351	\N	\N	EFO	2	EFO	Autosomal monosomy	Ring chromosome 16
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:96178	"" []	1164231	\N	\N	EFO	3	EFO	Autosomal anomaly	Ring chromosome 16
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96178	"" []	2048057	\N	\N	EFO	4	EFO	Chromosomal anomaly	Ring chromosome 16
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96178	"" []	3198106	\N	\N	EFO	5	EFO	genetic disorder	Ring chromosome 16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96178	"" []	4403458	\N	\N	EFO	6	EFO	disease	Ring chromosome 16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96178	"" []	5419243	\N	\N	EFO	7	EFO	disposition	Ring chromosome 16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96178	"" []	6153526	\N	\N	EFO	8	EFO	material property	Ring chromosome 16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96178	"" []	6634473	\N	\N	EFO	9	EFO	experimental factor	Ring chromosome 16
Orphanet:96179	\N	\N	"" []	Orphanet:96179	"" []	78757	\N	\N	EFO	0	EFO	Maternal uniparental disomy of chromosome 2	Maternal uniparental disomy of chromosome 2
Orphanet:98153	Orphanet:96179	\N	"" []	Orphanet:96179	"" []	223689	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Maternal uniparental disomy of chromosome 2
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:96179	"" []	580352	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Maternal uniparental disomy of chromosome 2
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96179	"" []	1164232	\N	\N	EFO	3	EFO	Autosomal anomaly	Maternal uniparental disomy of chromosome 2
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96179	"" []	2048058	\N	\N	EFO	4	EFO	Chromosomal anomaly	Maternal uniparental disomy of chromosome 2
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96179	"" []	3198107	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96179	"" []	4403459	\N	\N	EFO	6	EFO	disease	Maternal uniparental disomy of chromosome 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96179	"" []	5419244	\N	\N	EFO	7	EFO	disposition	Maternal uniparental disomy of chromosome 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96179	"" []	6153527	\N	\N	EFO	8	EFO	material property	Maternal uniparental disomy of chromosome 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96179	"" []	6634474	\N	\N	EFO	9	EFO	experimental factor	Maternal uniparental disomy of chromosome 2
Orphanet:96180	\N	\N	"" []	Orphanet:96180	"" []	78758	\N	\N	EFO	0	EFO	Maternal uniparental disomy of chromosome 4	Maternal uniparental disomy of chromosome 4
Orphanet:98153	Orphanet:96180	\N	"" []	Orphanet:96180	"" []	223690	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Maternal uniparental disomy of chromosome 4
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:96180	"" []	580353	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Maternal uniparental disomy of chromosome 4
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96180	"" []	1164233	\N	\N	EFO	3	EFO	Autosomal anomaly	Maternal uniparental disomy of chromosome 4
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96180	"" []	2048059	\N	\N	EFO	4	EFO	Chromosomal anomaly	Maternal uniparental disomy of chromosome 4
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96180	"" []	3198108	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96180	"" []	4403460	\N	\N	EFO	6	EFO	disease	Maternal uniparental disomy of chromosome 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96180	"" []	5419245	\N	\N	EFO	7	EFO	disposition	Maternal uniparental disomy of chromosome 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96180	"" []	6153528	\N	\N	EFO	8	EFO	material property	Maternal uniparental disomy of chromosome 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96180	"" []	6634475	\N	\N	EFO	9	EFO	experimental factor	Maternal uniparental disomy of chromosome 4
Orphanet:96181	\N	\N	"" []	Orphanet:96181	"" []	78759	\N	\N	EFO	0	EFO	Maternal uniparental disomy of chromosome 6	Maternal uniparental disomy of chromosome 6
Orphanet:98153	Orphanet:96181	\N	"" []	Orphanet:96181	"" []	223691	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Maternal uniparental disomy of chromosome 6
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:96181	"" []	580354	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Maternal uniparental disomy of chromosome 6
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96181	"" []	1164234	\N	\N	EFO	3	EFO	Autosomal anomaly	Maternal uniparental disomy of chromosome 6
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96181	"" []	2048060	\N	\N	EFO	4	EFO	Chromosomal anomaly	Maternal uniparental disomy of chromosome 6
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96181	"" []	3198109	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96181	"" []	4403461	\N	\N	EFO	6	EFO	disease	Maternal uniparental disomy of chromosome 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96181	"" []	5419246	\N	\N	EFO	7	EFO	disposition	Maternal uniparental disomy of chromosome 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96181	"" []	6153529	\N	\N	EFO	8	EFO	material property	Maternal uniparental disomy of chromosome 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96181	"" []	6634476	\N	\N	EFO	9	EFO	experimental factor	Maternal uniparental disomy of chromosome 6
Orphanet:96182	\N	\N	"" []	Orphanet:96182	"" []	78760	\N	\N	EFO	0	EFO	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:813	Orphanet:96182	\N	"" []	Orphanet:96182	"" []	223692	\N	\N	EFO	1	EFO	Silver-Russell syndrome	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:98153	Orphanet:96182	\N	"" []	Orphanet:96182	"" []	223693	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:183422	Orphanet:813	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:96182	"" []	580355	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:183570	Orphanet:813	\N	"" []	Orphanet:96182	"" []	580356	\N	\N	EFO	2	EFO	Genetic malformation syndrome with short stature	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:330197	Orphanet:813	\N	"" []	Orphanet:96182	"" []	580357	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:96182	"" []	580358	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:96182	"" []	1164235	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:96182	"" []	1164236	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:96182	"" []	1164237	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96182	"" []	1164238	\N	\N	EFO	3	EFO	Autosomal anomaly	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96182	"" []	2048061	\N	\N	EFO	4	EFO	genetic disorder	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96182	"" []	3198111	\N	\N	EFO	5	EFO	genetic disorder	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:96182	"" []	2048063	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96182	"" []	2048064	\N	\N	EFO	4	EFO	Chromosomal anomaly	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96182	"" []	4134546	\N	\N	EFO	6	EFO	disease	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96182	"" []	3198112	\N	\N	EFO	5	EFO	genetic disorder	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96182	"" []	5183715	\N	\N	EFO	7	EFO	disposition	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96182	"" []	5999040	\N	\N	EFO	8	EFO	material property	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96182	"" []	6552017	\N	\N	EFO	9	EFO	experimental factor	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Orphanet:96183	\N	\N	"" []	Orphanet:96183	"" []	78761	\N	\N	EFO	0	EFO	Maternal uniparental disomy of chromosome 9	Maternal uniparental disomy of chromosome 9
Orphanet:98153	Orphanet:96183	\N	"" []	Orphanet:96183	"" []	223694	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Maternal uniparental disomy of chromosome 9
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:96183	"" []	580359	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Maternal uniparental disomy of chromosome 9
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96183	"" []	1164239	\N	\N	EFO	3	EFO	Autosomal anomaly	Maternal uniparental disomy of chromosome 9
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96183	"" []	2048065	\N	\N	EFO	4	EFO	Chromosomal anomaly	Maternal uniparental disomy of chromosome 9
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96183	"" []	3198113	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96183	"" []	4403463	\N	\N	EFO	6	EFO	disease	Maternal uniparental disomy of chromosome 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96183	"" []	5419248	\N	\N	EFO	7	EFO	disposition	Maternal uniparental disomy of chromosome 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96183	"" []	6153531	\N	\N	EFO	8	EFO	material property	Maternal uniparental disomy of chromosome 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96183	"" []	6634477	\N	\N	EFO	9	EFO	experimental factor	Maternal uniparental disomy of chromosome 9
Orphanet:96184	\N	\N	"" []	Orphanet:96184	"" []	78762	\N	\N	EFO	0	EFO	Maternal uniparental disomy of chromosome 14	Maternal uniparental disomy of chromosome 14
Orphanet:254516	Orphanet:96184	\N	"" []	Orphanet:96184	"" []	223695	\N	\N	EFO	1	EFO	Motor developmental delay due to 14q32.2 paternally expressed gene defect	Maternal uniparental disomy of chromosome 14
Orphanet:98153	Orphanet:96184	\N	"" []	Orphanet:96184	"" []	223696	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Maternal uniparental disomy of chromosome 14
Orphanet:183763	Orphanet:254516	\N	"" []	Orphanet:96184	"" []	580360	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Maternal uniparental disomy of chromosome 14
Orphanet:240371	Orphanet:254516	\N	"" []	Orphanet:96184	"" []	580361	\N	\N	EFO	2	EFO	Syndromic obesity	Maternal uniparental disomy of chromosome 14
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:96184	"" []	580362	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Maternal uniparental disomy of chromosome 14
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:96184	"" []	1164240	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Maternal uniparental disomy of chromosome 14
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:96184	"" []	1164241	\N	\N	EFO	3	EFO	Genetic obesity	Maternal uniparental disomy of chromosome 14
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96184	"" []	1164242	\N	\N	EFO	3	EFO	Autosomal anomaly	Maternal uniparental disomy of chromosome 14
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:96184	"" []	2048066	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Maternal uniparental disomy of chromosome 14
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:96184	"" []	2048067	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Maternal uniparental disomy of chromosome 14
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:96184	"" []	2048068	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Maternal uniparental disomy of chromosome 14
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96184	"" []	2048069	\N	\N	EFO	4	EFO	Chromosomal anomaly	Maternal uniparental disomy of chromosome 14
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96184	"" []	3198114	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 14
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96184	"" []	3198115	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 14
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:96184	"" []	3198116	\N	\N	EFO	5	EFO	endocrine system disease	Maternal uniparental disomy of chromosome 14
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:96184	"" []	3198117	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Maternal uniparental disomy of chromosome 14
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96184	"" []	3198118	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 14
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96184	"" []	5419250	\N	\N	EFO	7	EFO	disease	Maternal uniparental disomy of chromosome 14
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96184	"" []	4403465	\N	\N	EFO	6	EFO	disease	Maternal uniparental disomy of chromosome 14
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96184	"" []	4403466	\N	\N	EFO	6	EFO	genetic disorder	Maternal uniparental disomy of chromosome 14
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96184	"" []	5999041	\N	\N	EFO	8	EFO	disposition	Maternal uniparental disomy of chromosome 14
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96184	"" []	6552018	\N	\N	EFO	9	EFO	material property	Maternal uniparental disomy of chromosome 14
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96184	"" []	6889624	\N	\N	EFO	10	EFO	experimental factor	Maternal uniparental disomy of chromosome 14
Orphanet:96185	\N	\N	"" []	Orphanet:96185	"" []	78763	\N	\N	EFO	0	EFO	Maternal uniparental disomy of chromosome 16	Maternal uniparental disomy of chromosome 16
Orphanet:117573	Orphanet:96185	\N	"" []	Orphanet:96185	"" []	223697	\N	\N	EFO	1	EFO	Syndromic anorectal malformation	Maternal uniparental disomy of chromosome 16
Orphanet:98153	Orphanet:96185	\N	"" []	Orphanet:96185	"" []	223698	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Maternal uniparental disomy of chromosome 16
Orphanet:96346	Orphanet:117573	\N	"" []	Orphanet:96185	"" []	580363	\N	\N	EFO	2	EFO	Anorectal malformation	Maternal uniparental disomy of chromosome 16
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:96185	"" []	580364	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Maternal uniparental disomy of chromosome 16
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:96185	"" []	1164243	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Maternal uniparental disomy of chromosome 16
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96185	"" []	1164244	\N	\N	EFO	3	EFO	Autosomal anomaly	Maternal uniparental disomy of chromosome 16
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:96185	"" []	2048070	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Maternal uniparental disomy of chromosome 16
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96185	"" []	2048071	\N	\N	EFO	4	EFO	Chromosomal anomaly	Maternal uniparental disomy of chromosome 16
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96185	"" []	3198119	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 16
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96185	"" []	3198120	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96185	"" []	4403467	\N	\N	EFO	6	EFO	disease	Maternal uniparental disomy of chromosome 16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96185	"" []	5419251	\N	\N	EFO	7	EFO	disposition	Maternal uniparental disomy of chromosome 16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96185	"" []	6153533	\N	\N	EFO	8	EFO	material property	Maternal uniparental disomy of chromosome 16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96185	"" []	6634479	\N	\N	EFO	9	EFO	experimental factor	Maternal uniparental disomy of chromosome 16
Orphanet:96186	\N	\N	"" []	Orphanet:96186	"" []	78764	\N	\N	EFO	0	EFO	Maternal uniparental disomy of chromosome 20	Maternal uniparental disomy of chromosome 20
Orphanet:98153	Orphanet:96186	\N	"" []	Orphanet:96186	"" []	223699	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Maternal uniparental disomy of chromosome 20
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:96186	"" []	580365	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Maternal uniparental disomy of chromosome 20
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96186	"" []	1164245	\N	\N	EFO	3	EFO	Autosomal anomaly	Maternal uniparental disomy of chromosome 20
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96186	"" []	2048072	\N	\N	EFO	4	EFO	Chromosomal anomaly	Maternal uniparental disomy of chromosome 20
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96186	"" []	3198121	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 20
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96186	"" []	4403468	\N	\N	EFO	6	EFO	disease	Maternal uniparental disomy of chromosome 20
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96186	"" []	5419252	\N	\N	EFO	7	EFO	disposition	Maternal uniparental disomy of chromosome 20
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96186	"" []	6153534	\N	\N	EFO	8	EFO	material property	Maternal uniparental disomy of chromosome 20
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96186	"" []	6634480	\N	\N	EFO	9	EFO	experimental factor	Maternal uniparental disomy of chromosome 20
Orphanet:96187	\N	\N	"" []	Orphanet:96187	"" []	78765	\N	\N	EFO	0	EFO	Maternal uniparental disomy of chromosome 21	Maternal uniparental disomy of chromosome 21
Orphanet:98153	Orphanet:96187	\N	"" []	Orphanet:96187	"" []	223700	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Maternal uniparental disomy of chromosome 21
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:96187	"" []	580366	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Maternal uniparental disomy of chromosome 21
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96187	"" []	1164246	\N	\N	EFO	3	EFO	Autosomal anomaly	Maternal uniparental disomy of chromosome 21
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96187	"" []	2048073	\N	\N	EFO	4	EFO	Chromosomal anomaly	Maternal uniparental disomy of chromosome 21
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96187	"" []	3198122	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 21
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96187	"" []	4403469	\N	\N	EFO	6	EFO	disease	Maternal uniparental disomy of chromosome 21
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96187	"" []	5419253	\N	\N	EFO	7	EFO	disposition	Maternal uniparental disomy of chromosome 21
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96187	"" []	6153535	\N	\N	EFO	8	EFO	material property	Maternal uniparental disomy of chromosome 21
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96187	"" []	6634481	\N	\N	EFO	9	EFO	experimental factor	Maternal uniparental disomy of chromosome 21
Orphanet:96188	\N	\N	"" []	Orphanet:96188	"" []	78766	\N	\N	EFO	0	EFO	Maternal uniparental disomy of chromosome 22	Maternal uniparental disomy of chromosome 22
Orphanet:98153	Orphanet:96188	\N	"" []	Orphanet:96188	"" []	223701	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Maternal uniparental disomy of chromosome 22
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:96188	"" []	580367	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Maternal uniparental disomy of chromosome 22
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96188	"" []	1164247	\N	\N	EFO	3	EFO	Autosomal anomaly	Maternal uniparental disomy of chromosome 22
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96188	"" []	2048074	\N	\N	EFO	4	EFO	Chromosomal anomaly	Maternal uniparental disomy of chromosome 22
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96188	"" []	3198123	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 22
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96188	"" []	4403470	\N	\N	EFO	6	EFO	disease	Maternal uniparental disomy of chromosome 22
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96188	"" []	5419254	\N	\N	EFO	7	EFO	disposition	Maternal uniparental disomy of chromosome 22
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96188	"" []	6153536	\N	\N	EFO	8	EFO	material property	Maternal uniparental disomy of chromosome 22
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96188	"" []	6634482	\N	\N	EFO	9	EFO	experimental factor	Maternal uniparental disomy of chromosome 22
Orphanet:96190	\N	\N	"" []	Orphanet:96190	"" []	78767	\N	\N	EFO	0	EFO	Paternal uniparental disomy of chromosome 5	Paternal uniparental disomy of chromosome 5
Orphanet:98154	Orphanet:96190	\N	"" []	Orphanet:96190	"" []	223702	\N	\N	EFO	1	EFO	Uniparental disomy of paternal origin	Paternal uniparental disomy of chromosome 5
Orphanet:98152	Orphanet:98154	\N	"" []	Orphanet:96190	"" []	580368	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Paternal uniparental disomy of chromosome 5
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96190	"" []	1164248	\N	\N	EFO	3	EFO	Autosomal anomaly	Paternal uniparental disomy of chromosome 5
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96190	"" []	2048075	\N	\N	EFO	4	EFO	Chromosomal anomaly	Paternal uniparental disomy of chromosome 5
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96190	"" []	3198124	\N	\N	EFO	5	EFO	genetic disorder	Paternal uniparental disomy of chromosome 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96190	"" []	4403471	\N	\N	EFO	6	EFO	disease	Paternal uniparental disomy of chromosome 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96190	"" []	5419255	\N	\N	EFO	7	EFO	disposition	Paternal uniparental disomy of chromosome 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96190	"" []	6153537	\N	\N	EFO	8	EFO	material property	Paternal uniparental disomy of chromosome 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96190	"" []	6634483	\N	\N	EFO	9	EFO	experimental factor	Paternal uniparental disomy of chromosome 5
Orphanet:96191	\N	\N	"" []	Orphanet:96191	"" []	78768	\N	\N	EFO	0	EFO	Paternal uniparental disomy of chromosome 6	Paternal uniparental disomy of chromosome 6
Orphanet:98154	Orphanet:96191	\N	"" []	Orphanet:96191	"" []	223703	\N	\N	EFO	1	EFO	Uniparental disomy of paternal origin	Paternal uniparental disomy of chromosome 6
Orphanet:98152	Orphanet:98154	\N	"" []	Orphanet:96191	"" []	580369	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Paternal uniparental disomy of chromosome 6
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96191	"" []	1164249	\N	\N	EFO	3	EFO	Autosomal anomaly	Paternal uniparental disomy of chromosome 6
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96191	"" []	2048076	\N	\N	EFO	4	EFO	Chromosomal anomaly	Paternal uniparental disomy of chromosome 6
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96191	"" []	3198125	\N	\N	EFO	5	EFO	genetic disorder	Paternal uniparental disomy of chromosome 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96191	"" []	4403472	\N	\N	EFO	6	EFO	disease	Paternal uniparental disomy of chromosome 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96191	"" []	5419256	\N	\N	EFO	7	EFO	disposition	Paternal uniparental disomy of chromosome 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96191	"" []	6153538	\N	\N	EFO	8	EFO	material property	Paternal uniparental disomy of chromosome 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96191	"" []	6634484	\N	\N	EFO	9	EFO	experimental factor	Paternal uniparental disomy of chromosome 6
Orphanet:96192	\N	\N	"" []	Orphanet:96192	"" []	78769	\N	\N	EFO	0	EFO	Paternal uniparental disomy of chromosome 7	Paternal uniparental disomy of chromosome 7
Orphanet:98154	Orphanet:96192	\N	"" []	Orphanet:96192	"" []	223704	\N	\N	EFO	1	EFO	Uniparental disomy of paternal origin	Paternal uniparental disomy of chromosome 7
Orphanet:98152	Orphanet:98154	\N	"" []	Orphanet:96192	"" []	580370	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Paternal uniparental disomy of chromosome 7
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96192	"" []	1164250	\N	\N	EFO	3	EFO	Autosomal anomaly	Paternal uniparental disomy of chromosome 7
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96192	"" []	2048077	\N	\N	EFO	4	EFO	Chromosomal anomaly	Paternal uniparental disomy of chromosome 7
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96192	"" []	3198126	\N	\N	EFO	5	EFO	genetic disorder	Paternal uniparental disomy of chromosome 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96192	"" []	4403473	\N	\N	EFO	6	EFO	disease	Paternal uniparental disomy of chromosome 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96192	"" []	5419257	\N	\N	EFO	7	EFO	disposition	Paternal uniparental disomy of chromosome 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96192	"" []	6153539	\N	\N	EFO	8	EFO	material property	Paternal uniparental disomy of chromosome 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96192	"" []	6634485	\N	\N	EFO	9	EFO	experimental factor	Paternal uniparental disomy of chromosome 7
Orphanet:96193	\N	\N	"" []	Orphanet:96193	"" []	78770	\N	\N	EFO	0	EFO	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:116	Orphanet:96193	\N	"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." []	Orphanet:96193	"" []	223705	\N	\N	EFO	1	EFO	Beckwith-Wiedemann syndrome	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:98154	Orphanet:96193	\N	"" []	Orphanet:96193	"" []	223706	\N	\N	EFO	1	EFO	Uniparental disomy of paternal origin	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:156207	Orphanet:116	\N	"" []	Orphanet:96193	"" []	580371	\N	\N	EFO	2	EFO	Macroglossia	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:156237	Orphanet:116	\N	"" []	Orphanet:96193	"" []	580372	\N	\N	EFO	2	EFO	Syndrome or malformation associated with head and neck malformations	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:183422	Orphanet:116	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:96193	"" []	580373	\N	\N	EFO	2	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:183595	Orphanet:116	\N	"" []	Orphanet:96193	"" []	580374	\N	\N	EFO	2	EFO	Genetic renal tumor	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:217595	Orphanet:116	\N	"" []	Orphanet:96193	"" []	580375	\N	\N	EFO	2	EFO	Syndrome associated with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:93460	Orphanet:116	\N	"" []	Orphanet:96193	"" []	580376	\N	\N	EFO	2	EFO	Overgrowth syndrome	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:93547	Orphanet:116	\N	"" []	Orphanet:96193	"" []	580377	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:98152	Orphanet:98154	\N	"" []	Orphanet:96193	"" []	580378	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:183583	Orphanet:156207	\N	"" []	Orphanet:96193	"" []	1164251	\N	\N	EFO	3	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:96333	Orphanet:156237	\N	"" []	Orphanet:96193	"" []	1164252	\N	\N	EFO	3	EFO	Rare otorhinolaryngological malformation	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:96193	"" []	1164253	\N	\N	EFO	3	EFO	Inherited cancer-predisposing syndrome	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0003863	Orphanet:183595	\N	"Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." []	Orphanet:96193	"" []	1164254	\N	\N	EFO	3	EFO	urogenital neoplasm	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:68336	Orphanet:183595	\N	"" []	Orphanet:96193	"" []	1164255	\N	\N	EFO	3	EFO	Rare genetic tumor	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:96193	"" []	1164256	\N	\N	EFO	3	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:183573	Orphanet:93460	\N	"" []	Orphanet:96193	"" []	1164257	\N	\N	EFO	3	EFO	Genetic overgrowth/obesity syndrome	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:96193	"" []	1164258	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96193	"" []	1164259	\N	\N	EFO	3	EFO	Autosomal anomaly	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:96193	"" []	3198128	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:96193	"" []	2048079	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96193	"" []	2048080	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000616	EFO:0003863	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:96193	"" []	2048081	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96193	"" []	2048082	\N	\N	EFO	4	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:96193	"" []	2048083	\N	\N	EFO	4	EFO	neoplasm	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:96193	"" []	2048084	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:96193	"" []	2048085	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:96193	"" []	2048086	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:96193	"" []	2048087	\N	\N	EFO	4	EFO	Rare genetic renal disease	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96193	"" []	2048088	\N	\N	EFO	4	EFO	Chromosomal anomaly	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96193	"" []	4134547	\N	\N	EFO	6	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96193	"" []	5183716	\N	\N	EFO	7	EFO	disease	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96193	"" []	3198130	\N	\N	EFO	5	EFO	disease	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96193	"" []	3198131	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:96193	"" []	3198132	\N	\N	EFO	5	EFO	heart disease	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96193	"" []	3198133	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96193	"" []	3198134	\N	\N	EFO	5	EFO	genetic disorder	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96193	"" []	5877905	\N	\N	EFO	8	EFO	disposition	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:96193	"" []	4403476	\N	\N	EFO	6	EFO	cardiovascular disease	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96193	"" []	6471117	\N	\N	EFO	9	EFO	material property	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96193	"" []	5419259	\N	\N	EFO	7	EFO	disease	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96193	"" []	6848915	\N	\N	EFO	10	EFO	experimental factor	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Orphanet:96194	\N	\N	"" []	Orphanet:96194	"" []	78771	\N	\N	EFO	0	EFO	Paternal uniparental disomy of chromosome 20	Paternal uniparental disomy of chromosome 20
Orphanet:98154	Orphanet:96194	\N	"" []	Orphanet:96194	"" []	223707	\N	\N	EFO	1	EFO	Uniparental disomy of paternal origin	Paternal uniparental disomy of chromosome 20
Orphanet:98152	Orphanet:98154	\N	"" []	Orphanet:96194	"" []	580379	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Paternal uniparental disomy of chromosome 20
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96194	"" []	1164260	\N	\N	EFO	3	EFO	Autosomal anomaly	Paternal uniparental disomy of chromosome 20
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96194	"" []	2048089	\N	\N	EFO	4	EFO	Chromosomal anomaly	Paternal uniparental disomy of chromosome 20
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96194	"" []	3198135	\N	\N	EFO	5	EFO	genetic disorder	Paternal uniparental disomy of chromosome 20
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96194	"" []	4403477	\N	\N	EFO	6	EFO	disease	Paternal uniparental disomy of chromosome 20
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96194	"" []	5419260	\N	\N	EFO	7	EFO	disposition	Paternal uniparental disomy of chromosome 20
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96194	"" []	6153541	\N	\N	EFO	8	EFO	material property	Paternal uniparental disomy of chromosome 20
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96194	"" []	6634486	\N	\N	EFO	9	EFO	experimental factor	Paternal uniparental disomy of chromosome 20
Orphanet:96195	\N	\N	"" []	Orphanet:96195	"" []	78772	\N	\N	EFO	0	EFO	Paternal uniparental disomy of chromosome 21	Paternal uniparental disomy of chromosome 21
Orphanet:98154	Orphanet:96195	\N	"" []	Orphanet:96195	"" []	223708	\N	\N	EFO	1	EFO	Uniparental disomy of paternal origin	Paternal uniparental disomy of chromosome 21
Orphanet:98152	Orphanet:98154	\N	"" []	Orphanet:96195	"" []	580380	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Paternal uniparental disomy of chromosome 21
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96195	"" []	1164261	\N	\N	EFO	3	EFO	Autosomal anomaly	Paternal uniparental disomy of chromosome 21
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96195	"" []	2048090	\N	\N	EFO	4	EFO	Chromosomal anomaly	Paternal uniparental disomy of chromosome 21
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96195	"" []	3198136	\N	\N	EFO	5	EFO	genetic disorder	Paternal uniparental disomy of chromosome 21
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96195	"" []	4403478	\N	\N	EFO	6	EFO	disease	Paternal uniparental disomy of chromosome 21
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96195	"" []	5419261	\N	\N	EFO	7	EFO	disposition	Paternal uniparental disomy of chromosome 21
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96195	"" []	6153542	\N	\N	EFO	8	EFO	material property	Paternal uniparental disomy of chromosome 21
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96195	"" []	6634487	\N	\N	EFO	9	EFO	experimental factor	Paternal uniparental disomy of chromosome 21
Orphanet:96201	\N	\N	"" []	Orphanet:96201	"" []	78773	\N	\N	EFO	0	EFO	X small rings	X small rings
Orphanet:400022	Orphanet:96201	\N	"" []	Orphanet:96201	"" []	223709	\N	\N	EFO	1	EFO	Rare female infertility due to an anomaly of ovarian function of genetic origin	X small rings
Orphanet:95710	Orphanet:96201	\N	"" []	Orphanet:96201	"" []	223710	\N	\N	EFO	1	EFO	Non-acquired premature ovarian failure	X small rings
Orphanet:98159	Orphanet:96201	\N	"" []	Orphanet:96201	"" []	223711	\N	\N	EFO	1	EFO	Chromosome X structural anomaly	X small rings
EFO:0005771	Orphanet:400022	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:96201	"" []	580381	\N	\N	EFO	2	EFO	ovarian disease	X small rings
Orphanet:400011	Orphanet:400022	\N	"" []	Orphanet:96201	"" []	580382	\N	\N	EFO	2	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	X small rings
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:96201	"" []	580383	\N	\N	EFO	2	EFO	ovarian disease	X small rings
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:96201	"" []	580384	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	X small rings
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:96201	"" []	580385	\N	\N	EFO	2	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	X small rings
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:96201	"" []	580386	\N	\N	EFO	2	EFO	Gonosome structural anomaly	X small rings
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:96201	"" []	1164262	\N	\N	EFO	3	EFO	reproductive system disease	X small rings
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:96201	"" []	1164263	\N	\N	EFO	3	EFO	Rare genetic female infertility	X small rings
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96201	"" []	1164264	\N	\N	EFO	3	EFO	genetic disorder	X small rings
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:96201	"" []	1164265	\N	\N	EFO	3	EFO	endocrine system disease	X small rings
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:96201	"" []	1164266	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	X small rings
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:96201	"" []	1164267	\N	\N	EFO	3	EFO	Gonosome anomaly	X small rings
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96201	"" []	4403481	\N	\N	EFO	6	EFO	disease	X small rings
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:96201	"" []	2048092	\N	\N	EFO	4	EFO	Genetic infertility	X small rings
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96201	"" []	4403480	\N	\N	EFO	6	EFO	disease	X small rings
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96201	"" []	2048094	\N	\N	EFO	4	EFO	disease	X small rings
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96201	"" []	2048095	\N	\N	EFO	4	EFO	genetic disorder	X small rings
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:96201	"" []	2048096	\N	\N	EFO	4	EFO	reproductive system disease	X small rings
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:96201	"" []	2048097	\N	\N	EFO	4	EFO	Chromosomal anomaly	X small rings
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96201	"" []	5060352	\N	\N	EFO	7	EFO	disposition	X small rings
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96201	"" []	3198138	\N	\N	EFO	5	EFO	genetic disorder	X small rings
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:96201	"" []	3198139	\N	\N	EFO	5	EFO	reproductive system disease	X small rings
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96201	"" []	3198142	\N	\N	EFO	5	EFO	genetic disorder	X small rings
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96201	"" []	5877906	\N	\N	EFO	8	EFO	material property	X small rings
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96201	"" []	6471118	\N	\N	EFO	9	EFO	experimental factor	X small rings
Orphanet:96210	\N	\N	"" []	Orphanet:96210	"" []	78774	\N	\N	EFO	0	EFO	Rare genetic deafness	Rare genetic deafness
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96210	"" []	223712	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic deafness
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:96210	"" []	223713	\N	\N	EFO	1	EFO	auditory system disease	Rare genetic deafness
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96210	"" []	580387	\N	\N	EFO	2	EFO	disease	Rare genetic deafness
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:96210	"" []	580388	\N	\N	EFO	2	EFO	sensory system disease	Rare genetic deafness
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96210	"" []	3198144	\N	\N	EFO	5	EFO	disposition	Rare genetic deafness
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:96210	"" []	1164269	\N	\N	EFO	3	EFO	nervous system disease	Rare genetic deafness
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96210	"" []	4067022	\N	\N	EFO	6	EFO	material property	Rare genetic deafness
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96210	"" []	2048099	\N	\N	EFO	4	EFO	disease	Rare genetic deafness
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96210	"" []	5060353	\N	\N	EFO	7	EFO	experimental factor	Rare genetic deafness
Orphanet:96263	\N	\N	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	78775	\N	\N	EFO	0	EFO	48,XXXY syndrome	48,XXXY syndrome
Orphanet:165707	Orphanet:96263	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	223714	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	48,XXXY syndrome
Orphanet:263720	Orphanet:96263	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	223715	\N	\N	EFO	1	EFO	X chromosome number anomaly with male phenotype	48,XXXY syndrome
Orphanet:325546	Orphanet:96263	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	223716	\N	\N	EFO	1	EFO	Sex chromosome disorder of sex development	48,XXXY syndrome
Orphanet:98313	Orphanet:96263	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	223717	\N	\N	EFO	1	EFO	Male infertility due to gonadal dysgenesis	48,XXXY syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	580389	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	48,XXXY syndrome
Orphanet:263714	Orphanet:263720	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	580390	\N	\N	EFO	2	EFO	X chromosome number anomaly	48,XXXY syndrome
Orphanet:325690	Orphanet:325546	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	580391	\N	\N	EFO	2	EFO	Genetic disorder of sex development	48,XXXY syndrome
Orphanet:399764	Orphanet:98313	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	580392	\N	\N	EFO	2	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	48,XXXY syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	1164270	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	48,XXXY syndrome
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	1164271	\N	\N	EFO	3	EFO	Gonosome number anomaly	48,XXXY syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	1164272	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	48,XXXY syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	1164273	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	48,XXXY syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	1164274	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	48,XXXY syndrome
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	1164275	\N	\N	EFO	3	EFO	Rare genetic male infertility	48,XXXY syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	2048100	\N	\N	EFO	4	EFO	genetic disorder	48,XXXY syndrome
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	2048101	\N	\N	EFO	4	EFO	Gonosome anomaly	48,XXXY syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	2048102	\N	\N	EFO	4	EFO	genetic disorder	48,XXXY syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	2048103	\N	\N	EFO	4	EFO	endocrine system disease	48,XXXY syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	2048104	\N	\N	EFO	4	EFO	genetic disorder	48,XXXY syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	2048105	\N	\N	EFO	4	EFO	Genetic infertility	48,XXXY syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	5419264	\N	\N	EFO	7	EFO	disease	48,XXXY syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	3198146	\N	\N	EFO	5	EFO	Chromosomal anomaly	48,XXXY syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	3198147	\N	\N	EFO	5	EFO	disease	48,XXXY syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	3198148	\N	\N	EFO	5	EFO	genetic disorder	48,XXXY syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	3198149	\N	\N	EFO	5	EFO	reproductive system disease	48,XXXY syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	5877907	\N	\N	EFO	8	EFO	disposition	48,XXXY syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	4403483	\N	\N	EFO	6	EFO	genetic disorder	48,XXXY syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	4403485	\N	\N	EFO	6	EFO	disease	48,XXXY syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	6471119	\N	\N	EFO	9	EFO	material property	48,XXXY syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96263	"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." []	6848916	\N	\N	EFO	10	EFO	experimental factor	48,XXXY syndrome
Orphanet:96264	\N	\N	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	78776	\N	\N	EFO	0	EFO	49,XXXXY syndrome	49,XXXXY syndrome
Orphanet:165707	Orphanet:96264	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	223718	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	49,XXXXY syndrome
Orphanet:263720	Orphanet:96264	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	223719	\N	\N	EFO	1	EFO	X chromosome number anomaly with male phenotype	49,XXXXY syndrome
Orphanet:325546	Orphanet:96264	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	223720	\N	\N	EFO	1	EFO	Sex chromosome disorder of sex development	49,XXXXY syndrome
Orphanet:98313	Orphanet:96264	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	223721	\N	\N	EFO	1	EFO	Male infertility due to gonadal dysgenesis	49,XXXXY syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	580393	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	49,XXXXY syndrome
Orphanet:263714	Orphanet:263720	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	580394	\N	\N	EFO	2	EFO	X chromosome number anomaly	49,XXXXY syndrome
Orphanet:325690	Orphanet:325546	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	580395	\N	\N	EFO	2	EFO	Genetic disorder of sex development	49,XXXXY syndrome
Orphanet:399764	Orphanet:98313	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	580396	\N	\N	EFO	2	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	49,XXXXY syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	1164276	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	49,XXXXY syndrome
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	1164277	\N	\N	EFO	3	EFO	Gonosome number anomaly	49,XXXXY syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	1164278	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	49,XXXXY syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	1164279	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	49,XXXXY syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	1164280	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	49,XXXXY syndrome
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	1164281	\N	\N	EFO	3	EFO	Rare genetic male infertility	49,XXXXY syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	2048106	\N	\N	EFO	4	EFO	genetic disorder	49,XXXXY syndrome
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	2048107	\N	\N	EFO	4	EFO	Gonosome anomaly	49,XXXXY syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	2048108	\N	\N	EFO	4	EFO	genetic disorder	49,XXXXY syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	2048109	\N	\N	EFO	4	EFO	endocrine system disease	49,XXXXY syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	2048110	\N	\N	EFO	4	EFO	genetic disorder	49,XXXXY syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	2048111	\N	\N	EFO	4	EFO	Genetic infertility	49,XXXXY syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	5419266	\N	\N	EFO	7	EFO	disease	49,XXXXY syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	3198151	\N	\N	EFO	5	EFO	Chromosomal anomaly	49,XXXXY syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	3198152	\N	\N	EFO	5	EFO	disease	49,XXXXY syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	3198153	\N	\N	EFO	5	EFO	genetic disorder	49,XXXXY syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	3198154	\N	\N	EFO	5	EFO	reproductive system disease	49,XXXXY syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	5877908	\N	\N	EFO	8	EFO	disposition	49,XXXXY syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	4403487	\N	\N	EFO	6	EFO	genetic disorder	49,XXXXY syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	4403489	\N	\N	EFO	6	EFO	disease	49,XXXXY syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	6471120	\N	\N	EFO	9	EFO	material property	49,XXXXY syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96264	"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." []	6848917	\N	\N	EFO	10	EFO	experimental factor	49,XXXXY syndrome
Orphanet:96265	\N	\N	"" []	Orphanet:96265	"" []	78777	\N	\N	EFO	0	EFO	Leydig cell hypoplasia due to complete LH resistance	Leydig cell hypoplasia due to complete LH resistance
Orphanet:755	Orphanet:96265	\N	"" []	Orphanet:96265	"" []	223722	\N	\N	EFO	1	EFO	Leydig cell hypoplasia	Leydig cell hypoplasia due to complete LH resistance
Orphanet:325357	Orphanet:755	\N	"" []	Orphanet:96265	"" []	580397	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to impaired androgen production	Leydig cell hypoplasia due to complete LH resistance
Orphanet:399685	Orphanet:755	\N	"" []	Orphanet:96265	"" []	580398	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Leydig cell hypoplasia due to complete LH resistance
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:96265	"" []	1164282	\N	\N	EFO	3	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Leydig cell hypoplasia due to complete LH resistance
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:96265	"" []	1164283	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Leydig cell hypoplasia due to complete LH resistance
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:96265	"" []	2048112	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development	Leydig cell hypoplasia due to complete LH resistance
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:96265	"" []	2048113	\N	\N	EFO	4	EFO	Rare genetic male infertility	Leydig cell hypoplasia due to complete LH resistance
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:96265	"" []	3198155	\N	\N	EFO	5	EFO	Genetic disorder of sex development	Leydig cell hypoplasia due to complete LH resistance
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:96265	"" []	3198156	\N	\N	EFO	5	EFO	Genetic infertility	Leydig cell hypoplasia due to complete LH resistance
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:96265	"" []	4403490	\N	\N	EFO	6	EFO	Rare genetic urogenital disease	Leydig cell hypoplasia due to complete LH resistance
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:96265	"" []	4403491	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Leydig cell hypoplasia due to complete LH resistance
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:96265	"" []	4403492	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Leydig cell hypoplasia due to complete LH resistance
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96265	"" []	4403493	\N	\N	EFO	6	EFO	genetic disorder	Leydig cell hypoplasia due to complete LH resistance
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:96265	"" []	4403494	\N	\N	EFO	6	EFO	reproductive system disease	Leydig cell hypoplasia due to complete LH resistance
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96265	"" []	5419267	\N	\N	EFO	7	EFO	genetic disorder	Leydig cell hypoplasia due to complete LH resistance
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96265	"" []	5419268	\N	\N	EFO	7	EFO	genetic disorder	Leydig cell hypoplasia due to complete LH resistance
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:96265	"" []	5419269	\N	\N	EFO	7	EFO	endocrine system disease	Leydig cell hypoplasia due to complete LH resistance
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96265	"" []	5419270	\N	\N	EFO	7	EFO	genetic disorder	Leydig cell hypoplasia due to complete LH resistance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96265	"" []	6153545	\N	\N	EFO	8	EFO	disease	Leydig cell hypoplasia due to complete LH resistance
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96265	"" []	5419272	\N	\N	EFO	7	EFO	disease	Leydig cell hypoplasia due to complete LH resistance
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96265	"" []	6153546	\N	\N	EFO	8	EFO	disease	Leydig cell hypoplasia due to complete LH resistance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96265	"" []	6552022	\N	\N	EFO	9	EFO	disposition	Leydig cell hypoplasia due to complete LH resistance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96265	"" []	6889625	\N	\N	EFO	10	EFO	material property	Leydig cell hypoplasia due to complete LH resistance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96265	"" []	7086088	\N	\N	EFO	11	EFO	experimental factor	Leydig cell hypoplasia due to complete LH resistance
Orphanet:96266	\N	\N	"" []	Orphanet:96266	"" []	78778	\N	\N	EFO	0	EFO	Leydig cell hypoplasia due to partial LH resistance	Leydig cell hypoplasia due to partial LH resistance
Orphanet:755	Orphanet:96266	\N	"" []	Orphanet:96266	"" []	223723	\N	\N	EFO	1	EFO	Leydig cell hypoplasia	Leydig cell hypoplasia due to partial LH resistance
Orphanet:325357	Orphanet:755	\N	"" []	Orphanet:96266	"" []	580399	\N	\N	EFO	2	EFO	46,XY disorder of sex development due to impaired androgen production	Leydig cell hypoplasia due to partial LH resistance
Orphanet:399685	Orphanet:755	\N	"" []	Orphanet:96266	"" []	580400	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Leydig cell hypoplasia due to partial LH resistance
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:96266	"" []	1164284	\N	\N	EFO	3	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Leydig cell hypoplasia due to partial LH resistance
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:96266	"" []	1164285	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Leydig cell hypoplasia due to partial LH resistance
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:96266	"" []	2048114	\N	\N	EFO	4	EFO	Genetic 46,XY disorder of sex development	Leydig cell hypoplasia due to partial LH resistance
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:96266	"" []	2048115	\N	\N	EFO	4	EFO	Rare genetic male infertility	Leydig cell hypoplasia due to partial LH resistance
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:96266	"" []	3198157	\N	\N	EFO	5	EFO	Genetic disorder of sex development	Leydig cell hypoplasia due to partial LH resistance
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:96266	"" []	3198158	\N	\N	EFO	5	EFO	Genetic infertility	Leydig cell hypoplasia due to partial LH resistance
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:96266	"" []	4403495	\N	\N	EFO	6	EFO	Rare genetic urogenital disease	Leydig cell hypoplasia due to partial LH resistance
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:96266	"" []	4403496	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Leydig cell hypoplasia due to partial LH resistance
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:96266	"" []	4403497	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Leydig cell hypoplasia due to partial LH resistance
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96266	"" []	4403498	\N	\N	EFO	6	EFO	genetic disorder	Leydig cell hypoplasia due to partial LH resistance
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:96266	"" []	4403499	\N	\N	EFO	6	EFO	reproductive system disease	Leydig cell hypoplasia due to partial LH resistance
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96266	"" []	5419273	\N	\N	EFO	7	EFO	genetic disorder	Leydig cell hypoplasia due to partial LH resistance
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96266	"" []	5419274	\N	\N	EFO	7	EFO	genetic disorder	Leydig cell hypoplasia due to partial LH resistance
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:96266	"" []	5419275	\N	\N	EFO	7	EFO	endocrine system disease	Leydig cell hypoplasia due to partial LH resistance
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96266	"" []	5419276	\N	\N	EFO	7	EFO	genetic disorder	Leydig cell hypoplasia due to partial LH resistance
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96266	"" []	6153548	\N	\N	EFO	8	EFO	disease	Leydig cell hypoplasia due to partial LH resistance
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96266	"" []	5419278	\N	\N	EFO	7	EFO	disease	Leydig cell hypoplasia due to partial LH resistance
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96266	"" []	6153549	\N	\N	EFO	8	EFO	disease	Leydig cell hypoplasia due to partial LH resistance
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96266	"" []	6552023	\N	\N	EFO	9	EFO	disposition	Leydig cell hypoplasia due to partial LH resistance
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96266	"" []	6889626	\N	\N	EFO	10	EFO	material property	Leydig cell hypoplasia due to partial LH resistance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96266	"" []	7086089	\N	\N	EFO	11	EFO	experimental factor	Leydig cell hypoplasia due to partial LH resistance
Orphanet:96321	\N	\N	"" []	Orphanet:96321	"" []	78779	\N	\N	EFO	0	EFO	Polyploidy	Polyploidy
Orphanet:68335	Orphanet:96321	\N	"" []	Orphanet:96321	"" []	223724	\N	\N	EFO	1	EFO	Chromosomal anomaly	Polyploidy
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96321	"" []	580401	\N	\N	EFO	2	EFO	genetic disorder	Polyploidy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96321	"" []	1164286	\N	\N	EFO	3	EFO	disease	Polyploidy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96321	"" []	2048116	\N	\N	EFO	4	EFO	disposition	Polyploidy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96321	"" []	3198159	\N	\N	EFO	5	EFO	material property	Polyploidy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96321	"" []	4403500	\N	\N	EFO	6	EFO	experimental factor	Polyploidy
Orphanet:96325	\N	\N	"" []	Orphanet:96325	"" []	78780	\N	\N	EFO	0	EFO	Isochromosome Y	Isochromosome Y
Orphanet:98158	Orphanet:96325	\N	"" []	Orphanet:96325	"" []	223725	\N	\N	EFO	1	EFO	Chromosome Y structural anomaly	Isochromosome Y
Orphanet:98157	Orphanet:98158	\N	"" []	Orphanet:96325	"" []	580402	\N	\N	EFO	2	EFO	Gonosome structural anomaly	Isochromosome Y
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:96325	"" []	1164287	\N	\N	EFO	3	EFO	Gonosome anomaly	Isochromosome Y
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:96325	"" []	2048117	\N	\N	EFO	4	EFO	Chromosomal anomaly	Isochromosome Y
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96325	"" []	3198160	\N	\N	EFO	5	EFO	genetic disorder	Isochromosome Y
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96325	"" []	4403501	\N	\N	EFO	6	EFO	disease	Isochromosome Y
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96325	"" []	5419279	\N	\N	EFO	7	EFO	disposition	Isochromosome Y
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96325	"" []	6153551	\N	\N	EFO	8	EFO	material property	Isochromosome Y
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96325	"" []	6634490	\N	\N	EFO	9	EFO	experimental factor	Isochromosome Y
Orphanet:96333	\N	\N	"" []	Orphanet:96333	"" []	78781	\N	\N	EFO	0	EFO	Rare otorhinolaryngological malformation	Rare otorhinolaryngological malformation
Orphanet:183583	Orphanet:96333	\N	"" []	Orphanet:96333	"" []	223726	\N	\N	EFO	1	EFO	Genetic head and neck malformation	Rare otorhinolaryngological malformation
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:96333	"" []	580403	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Rare otorhinolaryngological malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96333	"" []	1164288	\N	\N	EFO	3	EFO	genetic disorder	Rare otorhinolaryngological malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96333	"" []	2048118	\N	\N	EFO	4	EFO	disease	Rare otorhinolaryngological malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96333	"" []	3198161	\N	\N	EFO	5	EFO	disposition	Rare otorhinolaryngological malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96333	"" []	4403502	\N	\N	EFO	6	EFO	material property	Rare otorhinolaryngological malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96333	"" []	5419280	\N	\N	EFO	7	EFO	experimental factor	Rare otorhinolaryngological malformation
Orphanet:96334	\N	\N	"" []	Orphanet:96334	"" []	78782	\N	\N	EFO	0	EFO	Paternal uniparental disomy of chromosome 14	Paternal uniparental disomy of chromosome 14
Orphanet:254519	Orphanet:96334	\N	"" []	Orphanet:96334	"" []	223727	\N	\N	EFO	1	EFO	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	Paternal uniparental disomy of chromosome 14
Orphanet:98154	Orphanet:96334	\N	"" []	Orphanet:96334	"" []	223728	\N	\N	EFO	1	EFO	Uniparental disomy of paternal origin	Paternal uniparental disomy of chromosome 14
Orphanet:102283	Orphanet:254519	\N	"" []	Orphanet:96334	"" []	580404	\N	\N	EFO	2	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Paternal uniparental disomy of chromosome 14
Orphanet:183763	Orphanet:254519	\N	"" []	Orphanet:96334	"" []	580405	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Paternal uniparental disomy of chromosome 14
Orphanet:98152	Orphanet:98154	\N	"" []	Orphanet:96334	"" []	580406	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Paternal uniparental disomy of chromosome 14
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:96334	"" []	1164289	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Paternal uniparental disomy of chromosome 14
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:96334	"" []	1164290	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Paternal uniparental disomy of chromosome 14
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:96334	"" []	1164291	\N	\N	EFO	3	EFO	Autosomal anomaly	Paternal uniparental disomy of chromosome 14
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:96334	"" []	2048119	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Paternal uniparental disomy of chromosome 14
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:96334	"" []	2048120	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Paternal uniparental disomy of chromosome 14
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:96334	"" []	2048121	\N	\N	EFO	4	EFO	Chromosomal anomaly	Paternal uniparental disomy of chromosome 14
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96334	"" []	3198162	\N	\N	EFO	5	EFO	genetic disorder	Paternal uniparental disomy of chromosome 14
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96334	"" []	3198163	\N	\N	EFO	5	EFO	genetic disorder	Paternal uniparental disomy of chromosome 14
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96334	"" []	3198164	\N	\N	EFO	5	EFO	genetic disorder	Paternal uniparental disomy of chromosome 14
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96334	"" []	4403503	\N	\N	EFO	6	EFO	disease	Paternal uniparental disomy of chromosome 14
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96334	"" []	5419281	\N	\N	EFO	7	EFO	disposition	Paternal uniparental disomy of chromosome 14
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96334	"" []	6153552	\N	\N	EFO	8	EFO	material property	Paternal uniparental disomy of chromosome 14
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96334	"" []	6634491	\N	\N	EFO	9	EFO	experimental factor	Paternal uniparental disomy of chromosome 14
Orphanet:96346	\N	\N	"" []	Orphanet:96346	"" []	78783	\N	\N	EFO	0	EFO	Anorectal malformation	Anorectal malformation
Orphanet:183545	Orphanet:96346	\N	"" []	Orphanet:96346	"" []	223729	\N	\N	EFO	1	EFO	Genetic digestive tract malformation	Anorectal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:96346	"" []	580407	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Anorectal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:96346	"" []	1164292	\N	\N	EFO	3	EFO	genetic disorder	Anorectal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:96346	"" []	2048122	\N	\N	EFO	4	EFO	disease	Anorectal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:96346	"" []	3198165	\N	\N	EFO	5	EFO	disposition	Anorectal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:96346	"" []	4403504	\N	\N	EFO	6	EFO	material property	Anorectal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:96346	"" []	5419282	\N	\N	EFO	7	EFO	experimental factor	Anorectal malformation
Orphanet:965	\N	\N	"Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms)." []	Orphanet:965	"Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms)." []	78784	\N	\N	EFO	0	EFO	Acromegaloid facial appearance syndrome	Acromegaloid facial appearance syndrome
Orphanet:330197	Orphanet:965	\N	"" []	Orphanet:965	"Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms)." []	223730	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Acromegaloid facial appearance syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:965	"Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms)." []	580408	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Acromegaloid facial appearance syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:965	"Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms)." []	1164293	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acromegaloid facial appearance syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:965	"Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms)." []	2048123	\N	\N	EFO	4	EFO	genetic disorder	Acromegaloid facial appearance syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:965	"Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms)." []	3198166	\N	\N	EFO	5	EFO	disease	Acromegaloid facial appearance syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:965	"Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms)." []	4403505	\N	\N	EFO	6	EFO	disposition	Acromegaloid facial appearance syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:965	"Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms)." []	5419283	\N	\N	EFO	7	EFO	material property	Acromegaloid facial appearance syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:965	"Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms)." []	6153553	\N	\N	EFO	8	EFO	experimental factor	Acromegaloid facial appearance syndrome
Orphanet:966	\N	\N	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	78785	\N	\N	EFO	0	EFO	Hypertrichosis-acromegaloid facial appearance syndrome	Hypertrichosis-acromegaloid facial appearance syndrome
Orphanet:330206	Orphanet:966	\N	"" []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	223731	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Hypertrichosis-acromegaloid facial appearance syndrome
Orphanet:79365	Orphanet:966	\N	"" []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	223732	\N	\N	EFO	1	EFO	Hypertrichosis	Hypertrichosis-acromegaloid facial appearance syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	580409	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hypertrichosis-acromegaloid facial appearance syndrome
Orphanet:183450	Orphanet:79365	\N	"" []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	580410	\N	\N	EFO	2	EFO	Genetic hair anomaly	Hypertrichosis-acromegaloid facial appearance syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	1164294	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypertrichosis-acromegaloid facial appearance syndrome
Orphanet:183447	Orphanet:183450	\N	"" []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	1164295	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Hypertrichosis-acromegaloid facial appearance syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	2048124	\N	\N	EFO	4	EFO	genetic disorder	Hypertrichosis-acromegaloid facial appearance syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	2048125	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hypertrichosis-acromegaloid facial appearance syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	4403507	\N	\N	EFO	6	EFO	disease	Hypertrichosis-acromegaloid facial appearance syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	3198168	\N	\N	EFO	5	EFO	genetic disorder	Hypertrichosis-acromegaloid facial appearance syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	3198169	\N	\N	EFO	5	EFO	skin disease	Hypertrichosis-acromegaloid facial appearance syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	5183721	\N	\N	EFO	7	EFO	disposition	Hypertrichosis-acromegaloid facial appearance syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	4403508	\N	\N	EFO	6	EFO	disease	Hypertrichosis-acromegaloid facial appearance syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	5999046	\N	\N	EFO	8	EFO	material property	Hypertrichosis-acromegaloid facial appearance syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:966	"Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia Cant type (see these terms)." []	6552024	\N	\N	EFO	9	EFO	experimental factor	Hypertrichosis-acromegaloid facial appearance syndrome
Orphanet:968	\N	\N	"" []	Orphanet:968	"" []	78786	\N	\N	EFO	0	EFO	Acromesomelic dysplasia, Hunter-Thomson type	Acromesomelic dysplasia, Hunter-Thomson type
Orphanet:93437	Orphanet:968	\N	"" []	Orphanet:968	"" []	223733	\N	\N	EFO	1	EFO	Acromesomelic dysplasia	Acromesomelic dysplasia, Hunter-Thomson type
Orphanet:364526	Orphanet:93437	\N	"" []	Orphanet:968	"" []	580411	\N	\N	EFO	2	EFO	Primary bone dysplasia	Acromesomelic dysplasia, Hunter-Thomson type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:968	"" []	1164296	\N	\N	EFO	3	EFO	Rare genetic bone disease	Acromesomelic dysplasia, Hunter-Thomson type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:968	"" []	1164297	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Acromesomelic dysplasia, Hunter-Thomson type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:968	"" []	2048126	\N	\N	EFO	4	EFO	genetic disorder	Acromesomelic dysplasia, Hunter-Thomson type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:968	"" []	2048127	\N	\N	EFO	4	EFO	bone disease	Acromesomelic dysplasia, Hunter-Thomson type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:968	"" []	2048128	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acromesomelic dysplasia, Hunter-Thomson type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:968	"" []	4403511	\N	\N	EFO	6	EFO	disease	Acromesomelic dysplasia, Hunter-Thomson type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:968	"" []	3198171	\N	\N	EFO	5	EFO	skeletal system disease	Acromesomelic dysplasia, Hunter-Thomson type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:968	"" []	3198172	\N	\N	EFO	5	EFO	genetic disorder	Acromesomelic dysplasia, Hunter-Thomson type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:968	"" []	5183722	\N	\N	EFO	7	EFO	disposition	Acromesomelic dysplasia, Hunter-Thomson type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:968	"" []	4403510	\N	\N	EFO	6	EFO	disease	Acromesomelic dysplasia, Hunter-Thomson type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:968	"" []	5999047	\N	\N	EFO	8	EFO	material property	Acromesomelic dysplasia, Hunter-Thomson type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:968	"" []	6552025	\N	\N	EFO	9	EFO	experimental factor	Acromesomelic dysplasia, Hunter-Thomson type
Orphanet:969	\N	\N	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	78787	\N	\N	EFO	0	EFO	Acromicric dysplasia	Acromicric dysplasia
Orphanet:93436	Orphanet:969	\N	"" []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	223734	\N	\N	EFO	1	EFO	Acromelic dysplasia	Acromicric dysplasia
Orphanet:364526	Orphanet:93436	\N	"" []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	580412	\N	\N	EFO	2	EFO	Primary bone dysplasia	Acromicric dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	1164298	\N	\N	EFO	3	EFO	Rare genetic bone disease	Acromicric dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	1164299	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Acromicric dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	2048129	\N	\N	EFO	4	EFO	genetic disorder	Acromicric dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	2048130	\N	\N	EFO	4	EFO	bone disease	Acromicric dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	2048131	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Acromicric dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	4403514	\N	\N	EFO	6	EFO	disease	Acromicric dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	3198174	\N	\N	EFO	5	EFO	skeletal system disease	Acromicric dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	3198175	\N	\N	EFO	5	EFO	genetic disorder	Acromicric dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	5183723	\N	\N	EFO	7	EFO	disposition	Acromicric dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	4403513	\N	\N	EFO	6	EFO	disease	Acromicric dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	5999048	\N	\N	EFO	8	EFO	material property	Acromicric dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:969	"Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." []	6552026	\N	\N	EFO	9	EFO	experimental factor	Acromicric dysplasia
Orphanet:97	\N	\N	"Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." []	Orphanet:97	"Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." []	78788	\N	\N	EFO	0	EFO	Familial paroxysmal ataxia	Familial paroxysmal ataxia
Orphanet:211062	Orphanet:97	\N	"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." []	Orphanet:97	"Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." []	223735	\N	\N	EFO	1	EFO	Hereditary episodic ataxia	Familial paroxysmal ataxia
Orphanet:183518	Orphanet:211062	\N	"" []	Orphanet:97	"Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." []	580413	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Familial paroxysmal ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:97	"Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." []	1164300	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Familial paroxysmal ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97	"Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." []	2048132	\N	\N	EFO	4	EFO	genetic disorder	Familial paroxysmal ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97	"Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." []	3198176	\N	\N	EFO	5	EFO	disease	Familial paroxysmal ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97	"Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." []	4403515	\N	\N	EFO	6	EFO	disposition	Familial paroxysmal ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97	"Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." []	5419287	\N	\N	EFO	7	EFO	material property	Familial paroxysmal ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97	"Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." []	6153557	\N	\N	EFO	8	EFO	experimental factor	Familial paroxysmal ataxia
Orphanet:970	\N	\N	"" []	Orphanet:970	"" []	78789	\N	\N	EFO	0	EFO	Hereditary sensory and autonomic neuropathy type 2	Hereditary sensory and autonomic neuropathy type 2
Orphanet:140477	Orphanet:970	\N	"" []	Orphanet:970	"" []	223736	\N	\N	EFO	1	EFO	Autosomal recessive hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 2
Orphanet:140471	Orphanet:140477	\N	"" []	Orphanet:970	"" []	580414	\N	\N	EFO	2	EFO	Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 2
Orphanet:98497	Orphanet:140471	\N	"" []	Orphanet:970	"" []	1164301	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Hereditary sensory and autonomic neuropathy type 2
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:970	"" []	2048133	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary sensory and autonomic neuropathy type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:970	"" []	3198177	\N	\N	EFO	5	EFO	genetic disorder	Hereditary sensory and autonomic neuropathy type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:970	"" []	4403516	\N	\N	EFO	6	EFO	disease	Hereditary sensory and autonomic neuropathy type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:970	"" []	5419288	\N	\N	EFO	7	EFO	disposition	Hereditary sensory and autonomic neuropathy type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:970	"" []	6153558	\N	\N	EFO	8	EFO	material property	Hereditary sensory and autonomic neuropathy type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:970	"" []	6634492	\N	\N	EFO	9	EFO	experimental factor	Hereditary sensory and autonomic neuropathy type 2
Orphanet:971	\N	\N	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	78790	\N	\N	EFO	0	EFO	Acrorenal syndrome	Acrorenal syndrome
Orphanet:330206	Orphanet:971	\N	"" []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	223737	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Acrorenal syndrome
Orphanet:93547	Orphanet:971	\N	"" []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	223738	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Acrorenal syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	580415	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Acrorenal syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	580416	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Acrorenal syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	1164302	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acrorenal syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	1164303	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Acrorenal syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	1164304	\N	\N	EFO	3	EFO	Rare genetic renal disease	Acrorenal syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	2048134	\N	\N	EFO	4	EFO	genetic disorder	Acrorenal syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	2048135	\N	\N	EFO	4	EFO	genetic disorder	Acrorenal syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	3198178	\N	\N	EFO	5	EFO	disease	Acrorenal syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	4403517	\N	\N	EFO	6	EFO	disposition	Acrorenal syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	5419289	\N	\N	EFO	7	EFO	material property	Acrorenal syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:971	"Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected." []	6153559	\N	\N	EFO	8	EFO	experimental factor	Acrorenal syndrome
Orphanet:97120	\N	\N	"" []	Orphanet:97120	"" []	78791	\N	\N	EFO	0	EFO	Distal arthrogryposis	Distal arthrogryposis
Orphanet:109007	Orphanet:97120	\N	"" []	Orphanet:97120	"" []	223739	\N	\N	EFO	1	EFO	Arthrogryposis syndrome	Distal arthrogryposis
Orphanet:404577	Orphanet:109007	\N	"" []	Orphanet:97120	"" []	580417	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Distal arthrogryposis
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:97120	"" []	1164305	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Distal arthrogryposis
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:97120	"" []	2048136	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Distal arthrogryposis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97120	"" []	3198179	\N	\N	EFO	5	EFO	genetic disorder	Distal arthrogryposis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97120	"" []	4403518	\N	\N	EFO	6	EFO	disease	Distal arthrogryposis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97120	"" []	5419290	\N	\N	EFO	7	EFO	disposition	Distal arthrogryposis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97120	"" []	6153560	\N	\N	EFO	8	EFO	material property	Distal arthrogryposis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97120	"" []	6634493	\N	\N	EFO	9	EFO	experimental factor	Distal arthrogryposis
Orphanet:972	\N	\N	"" []	Orphanet:972	"" []	78792	\N	\N	EFO	0	EFO	Hereditary continuous muscle fiber activity	Hereditary continuous muscle fiber activity
Orphanet:206656	Orphanet:972	\N	"" []	Orphanet:972	"" []	223740	\N	\N	EFO	1	EFO	Non-dystrophic myopathy	Hereditary continuous muscle fiber activity
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:972	"" []	580418	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Hereditary continuous muscle fiber activity
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:972	"" []	1164306	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Hereditary continuous muscle fiber activity
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:972	"" []	2048137	\N	\N	EFO	4	EFO	muscular disease	Hereditary continuous muscle fiber activity
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:972	"" []	2048138	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Hereditary continuous muscle fiber activity
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:972	"" []	3198180	\N	\N	EFO	5	EFO	skeletal system disease	Hereditary continuous muscle fiber activity
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:972	"" []	3198181	\N	\N	EFO	5	EFO	genetic disorder	Hereditary continuous muscle fiber activity
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:972	"" []	4403519	\N	\N	EFO	6	EFO	disease	Hereditary continuous muscle fiber activity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:972	"" []	4403520	\N	\N	EFO	6	EFO	disease	Hereditary continuous muscle fiber activity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:972	"" []	5419291	\N	\N	EFO	7	EFO	disposition	Hereditary continuous muscle fiber activity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:972	"" []	6153561	\N	\N	EFO	8	EFO	material property	Hereditary continuous muscle fiber activity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:972	"" []	6634494	\N	\N	EFO	9	EFO	experimental factor	Hereditary continuous muscle fiber activity
Orphanet:97229	\N	\N	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	78793	\N	\N	EFO	0	EFO	Riboflavin transporter deficiency	Riboflavin transporter deficiency
Orphanet:206704	Orphanet:97229	\N	"" []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	223741	\N	\N	EFO	1	EFO	Bulbospinal muscular atrophy of children	Riboflavin transporter deficiency
Orphanet:90642	Orphanet:97229	\N	"" []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	223742	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Riboflavin transporter deficiency
Orphanet:206701	Orphanet:206704	\N	"" []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	580419	\N	\N	EFO	2	EFO	Bulbospinal muscular atrophy	Riboflavin transporter deficiency
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	580420	\N	\N	EFO	2	EFO	Rare genetic deafness	Riboflavin transporter deficiency
Orphanet:98505	Orphanet:206701	\N	"" []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	1164307	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Riboflavin transporter deficiency
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	1164308	\N	\N	EFO	3	EFO	genetic disorder	Riboflavin transporter deficiency
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	1164309	\N	\N	EFO	3	EFO	auditory system disease	Riboflavin transporter deficiency
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	2048139	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Riboflavin transporter deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	5419293	\N	\N	EFO	7	EFO	disease	Riboflavin transporter deficiency
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	2048141	\N	\N	EFO	4	EFO	sensory system disease	Riboflavin transporter deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	3198182	\N	\N	EFO	5	EFO	muscular disease	Riboflavin transporter deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	3198183	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Riboflavin transporter deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	5817928	\N	\N	EFO	8	EFO	disposition	Riboflavin transporter deficiency
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	3198185	\N	\N	EFO	5	EFO	nervous system disease	Riboflavin transporter deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	4403521	\N	\N	EFO	6	EFO	skeletal system disease	Riboflavin transporter deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	4403522	\N	\N	EFO	6	EFO	genetic disorder	Riboflavin transporter deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	6410446	\N	\N	EFO	9	EFO	material property	Riboflavin transporter deficiency
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	4403524	\N	\N	EFO	6	EFO	disease	Riboflavin transporter deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	5419292	\N	\N	EFO	7	EFO	disease	Riboflavin transporter deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97229	"Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." []	6808248	\N	\N	EFO	10	EFO	experimental factor	Riboflavin transporter deficiency
Orphanet:97231	\N	\N	"" []	Orphanet:97231	"" []	78794	\N	\N	EFO	0	EFO	Ligneous conjunctivitis	Ligneous conjunctivitis
Orphanet:98610	Orphanet:97231	\N	"" []	Orphanet:97231	"" []	223743	\N	\N	EFO	1	EFO	Rare conjunctival disease	Ligneous conjunctivitis
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:97231	"" []	580421	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Ligneous conjunctivitis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:97231	"" []	1164310	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ligneous conjunctivitis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97231	"" []	2048142	\N	\N	EFO	4	EFO	genetic disorder	Ligneous conjunctivitis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:97231	"" []	2048143	\N	\N	EFO	4	EFO	eye disease	Ligneous conjunctivitis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97231	"" []	3198186	\N	\N	EFO	5	EFO	disease	Ligneous conjunctivitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97231	"" []	3198187	\N	\N	EFO	5	EFO	disease	Ligneous conjunctivitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97231	"" []	4403525	\N	\N	EFO	6	EFO	disposition	Ligneous conjunctivitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97231	"" []	5419296	\N	\N	EFO	7	EFO	material property	Ligneous conjunctivitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97231	"" []	6153562	\N	\N	EFO	8	EFO	experimental factor	Ligneous conjunctivitis
Orphanet:97232	\N	\N	"" []	Orphanet:97232	"" []	78795	\N	\N	EFO	0	EFO	Fingerprint body myopathy	Fingerprint body myopathy
Orphanet:97245	Orphanet:97232	\N	"" []	Orphanet:97232	"" []	223744	\N	\N	EFO	1	EFO	Congenital myopathy	Fingerprint body myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:97232	"" []	580422	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Fingerprint body myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:97232	"" []	1164311	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Fingerprint body myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:97232	"" []	2048144	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Fingerprint body myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:97232	"" []	3198188	\N	\N	EFO	5	EFO	muscular disease	Fingerprint body myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:97232	"" []	3198189	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Fingerprint body myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:97232	"" []	4403526	\N	\N	EFO	6	EFO	skeletal system disease	Fingerprint body myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97232	"" []	4403527	\N	\N	EFO	6	EFO	genetic disorder	Fingerprint body myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97232	"" []	5419297	\N	\N	EFO	7	EFO	disease	Fingerprint body myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97232	"" []	5419298	\N	\N	EFO	7	EFO	disease	Fingerprint body myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97232	"" []	6153563	\N	\N	EFO	8	EFO	disposition	Fingerprint body myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97232	"" []	6634495	\N	\N	EFO	9	EFO	material property	Fingerprint body myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97232	"" []	6926374	\N	\N	EFO	10	EFO	experimental factor	Fingerprint body myopathy
Orphanet:97234	\N	\N	"" []	Orphanet:97234	"" []	78796	\N	\N	EFO	0	EFO	Glycogen storage disease due to phosphoglycerate mutase deficiency	Glycogen storage disease due to phosphoglycerate mutase deficiency
Orphanet:206959	Orphanet:97234	\N	"" []	Orphanet:97234	"" []	223745	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to phosphoglycerate mutase deficiency
Orphanet:79201	Orphanet:97234	\N	"" []	Orphanet:97234	"" []	223746	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to phosphoglycerate mutase deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:97234	"" []	580423	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to phosphoglycerate mutase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:97234	"" []	580424	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to phosphoglycerate mutase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:97234	"" []	1164312	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to phosphoglycerate mutase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:97234	"" []	1164313	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to phosphoglycerate mutase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:97234	"" []	2048145	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to phosphoglycerate mutase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97234	"" []	2048146	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to phosphoglycerate mutase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:97234	"" []	2048147	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to phosphoglycerate mutase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:97234	"" []	3198190	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to phosphoglycerate mutase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97234	"" []	6153565	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to phosphoglycerate mutase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97234	"" []	3198192	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to phosphoglycerate mutase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:97234	"" []	4403528	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to phosphoglycerate mutase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:97234	"" []	4403529	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to phosphoglycerate mutase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97234	"" []	6410447	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to phosphoglycerate mutase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:97234	"" []	5419299	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to phosphoglycerate mutase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97234	"" []	5419300	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to phosphoglycerate mutase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97234	"" []	6808249	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to phosphoglycerate mutase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97234	"" []	6153564	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to phosphoglycerate mutase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97234	"" []	7048864	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to phosphoglycerate mutase deficiency
Orphanet:97238	\N	\N	"" []	Orphanet:97238	"" []	78797	\N	\N	EFO	0	EFO	Rippling muscle disease	Rippling muscle disease
Orphanet:206656	Orphanet:97238	\N	"" []	Orphanet:97238	"" []	223747	\N	\N	EFO	1	EFO	Non-dystrophic myopathy	Rippling muscle disease
Orphanet:207078	Orphanet:97238	\N	"" []	Orphanet:97238	"" []	223748	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of caveolin-3	Rippling muscle disease
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:97238	"" []	580425	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Rippling muscle disease
Orphanet:207049	Orphanet:207078	\N	"" []	Orphanet:97238	"" []	580426	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Rippling muscle disease
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:97238	"" []	1164314	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Rippling muscle disease
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:97238	"" []	1164315	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Rippling muscle disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:97238	"" []	2048148	\N	\N	EFO	4	EFO	muscular disease	Rippling muscle disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:97238	"" []	2048149	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Rippling muscle disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:97238	"" []	3198193	\N	\N	EFO	5	EFO	skeletal system disease	Rippling muscle disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97238	"" []	3198194	\N	\N	EFO	5	EFO	genetic disorder	Rippling muscle disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97238	"" []	4403531	\N	\N	EFO	6	EFO	disease	Rippling muscle disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97238	"" []	4403532	\N	\N	EFO	6	EFO	disease	Rippling muscle disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97238	"" []	5419302	\N	\N	EFO	7	EFO	disposition	Rippling muscle disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97238	"" []	6153567	\N	\N	EFO	8	EFO	material property	Rippling muscle disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97238	"" []	6634496	\N	\N	EFO	9	EFO	experimental factor	Rippling muscle disease
Orphanet:97239	\N	\N	"" []	Orphanet:97239	"" []	78798	\N	\N	EFO	0	EFO	Reducing body myopathy	Reducing body myopathy
Orphanet:97245	Orphanet:97239	\N	"" []	Orphanet:97239	"" []	223749	\N	\N	EFO	1	EFO	Congenital myopathy	Reducing body myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:97239	"" []	580427	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Reducing body myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:97239	"" []	1164316	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Reducing body myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:97239	"" []	2048150	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Reducing body myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:97239	"" []	3198195	\N	\N	EFO	5	EFO	muscular disease	Reducing body myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:97239	"" []	3198196	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Reducing body myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:97239	"" []	4403533	\N	\N	EFO	6	EFO	skeletal system disease	Reducing body myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97239	"" []	4403534	\N	\N	EFO	6	EFO	genetic disorder	Reducing body myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97239	"" []	5419303	\N	\N	EFO	7	EFO	disease	Reducing body myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97239	"" []	5419304	\N	\N	EFO	7	EFO	disease	Reducing body myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97239	"" []	6153568	\N	\N	EFO	8	EFO	disposition	Reducing body myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97239	"" []	6634497	\N	\N	EFO	9	EFO	material property	Reducing body myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97239	"" []	6926375	\N	\N	EFO	10	EFO	experimental factor	Reducing body myopathy
Orphanet:97240	\N	\N	"" []	Orphanet:97240	"" []	78799	\N	\N	EFO	0	EFO	Zebra body myopathy	Zebra body myopathy
Orphanet:97245	Orphanet:97240	\N	"" []	Orphanet:97240	"" []	223750	\N	\N	EFO	1	EFO	Congenital myopathy	Zebra body myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:97240	"" []	580428	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Zebra body myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:97240	"" []	1164317	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Zebra body myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:97240	"" []	2048151	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Zebra body myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:97240	"" []	3198197	\N	\N	EFO	5	EFO	muscular disease	Zebra body myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:97240	"" []	3198198	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Zebra body myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:97240	"" []	4403535	\N	\N	EFO	6	EFO	skeletal system disease	Zebra body myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97240	"" []	4403536	\N	\N	EFO	6	EFO	genetic disorder	Zebra body myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97240	"" []	5419305	\N	\N	EFO	7	EFO	disease	Zebra body myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97240	"" []	5419306	\N	\N	EFO	7	EFO	disease	Zebra body myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97240	"" []	6153569	\N	\N	EFO	8	EFO	disposition	Zebra body myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97240	"" []	6634498	\N	\N	EFO	9	EFO	material property	Zebra body myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97240	"" []	6926376	\N	\N	EFO	10	EFO	experimental factor	Zebra body myopathy
Orphanet:97242	\N	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	78800	\N	\N	EFO	0	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	223751	\N	\N	EFO	1	EFO	Muscular dystrophy	Congenital muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	580429	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	1164318	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	2048152	\N	\N	EFO	4	EFO	muscular disease	Congenital muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	2048153	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	3198199	\N	\N	EFO	5	EFO	skeletal system disease	Congenital muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	3198200	\N	\N	EFO	5	EFO	genetic disorder	Congenital muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	4403537	\N	\N	EFO	6	EFO	disease	Congenital muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	4403538	\N	\N	EFO	6	EFO	disease	Congenital muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	5419307	\N	\N	EFO	7	EFO	disposition	Congenital muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	6153570	\N	\N	EFO	8	EFO	material property	Congenital muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97242	" and Nesprin-1-related CMD; see these terms)." []	6634499	\N	\N	EFO	9	EFO	experimental factor	Congenital muscular dystrophy
Orphanet:97244	\N	\N	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	78801	\N	\N	EFO	0	EFO	Rigid spine syndrome	Rigid spine syndrome
Orphanet:209041	Orphanet:97244	\N	"" []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	223752	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of desmin	Rigid spine syndrome
Orphanet:209193	Orphanet:97244	\N	"" []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	223753	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of selenoprotein N1	Rigid spine syndrome
Orphanet:97242	Orphanet:97244	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	223754	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Rigid spine syndrome
Orphanet:209038	Orphanet:209041	\N	"" []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	580430	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of myofibrillar proteins	Rigid spine syndrome
Orphanet:207049	Orphanet:209193	\N	"" []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	580431	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Rigid spine syndrome
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	580432	\N	\N	EFO	2	EFO	Muscular dystrophy	Rigid spine syndrome
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	1164319	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Rigid spine syndrome
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	2048154	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Rigid spine syndrome
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	1164321	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Rigid spine syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	3000494	\N	\N	EFO	5	EFO	muscular disease	Rigid spine syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	3000495	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Rigid spine syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	2048157	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Rigid spine syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	4134549	\N	\N	EFO	6	EFO	skeletal system disease	Rigid spine syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	4134550	\N	\N	EFO	6	EFO	genetic disorder	Rigid spine syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	5183724	\N	\N	EFO	7	EFO	disease	Rigid spine syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	5183725	\N	\N	EFO	7	EFO	disease	Rigid spine syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	5999049	\N	\N	EFO	8	EFO	disposition	Rigid spine syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	6552027	\N	\N	EFO	9	EFO	material property	Rigid spine syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97244	"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." []	6889627	\N	\N	EFO	10	EFO	experimental factor	Rigid spine syndrome
Orphanet:97245	\N	\N	"" []	Orphanet:97245	"" []	78802	\N	\N	EFO	0	EFO	Congenital myopathy	Congenital myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:97245	"" []	223755	\N	\N	EFO	1	EFO	Non-dystrophic myopathy	Congenital myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:97245	"" []	580433	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Congenital myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:97245	"" []	1164322	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Congenital myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:97245	"" []	2048158	\N	\N	EFO	4	EFO	muscular disease	Congenital myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:97245	"" []	2048159	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Congenital myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:97245	"" []	3198203	\N	\N	EFO	5	EFO	skeletal system disease	Congenital myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97245	"" []	3198204	\N	\N	EFO	5	EFO	genetic disorder	Congenital myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97245	"" []	4403541	\N	\N	EFO	6	EFO	disease	Congenital myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97245	"" []	4403542	\N	\N	EFO	6	EFO	disease	Congenital myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97245	"" []	5419309	\N	\N	EFO	7	EFO	disposition	Congenital myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97245	"" []	6153572	\N	\N	EFO	8	EFO	material property	Congenital myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97245	"" []	6634501	\N	\N	EFO	9	EFO	experimental factor	Congenital myopathy
Orphanet:97249	\N	\N	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	78803	\N	\N	EFO	0	EFO	Pontocerebellar hypoplasia type 3	Pontocerebellar hypoplasia type 3
Orphanet:98523	Orphanet:97249	\N	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	223756	\N	\N	EFO	1	EFO	Non-syndromic pontocerebellar hypoplasia	Pontocerebellar hypoplasia type 3
Orphanet:98666	Orphanet:97249	\N	"" []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	223757	\N	\N	EFO	1	EFO	Unclassified primitive or secondary maculopathy	Pontocerebellar hypoplasia type 3
Orphanet:269557	Orphanet:98523	\N	"" []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	580434	\N	\N	EFO	2	EFO	Genetic posterior fossa malformation	Pontocerebellar hypoplasia type 3
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	580435	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Pontocerebellar hypoplasia type 3
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	1164323	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Pontocerebellar hypoplasia type 3
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	1164324	\N	\N	EFO	3	EFO	Retinal dystrophy	Pontocerebellar hypoplasia type 3
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	2048160	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Pontocerebellar hypoplasia type 3
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	2048161	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Pontocerebellar hypoplasia type 3
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	3198205	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Pontocerebellar hypoplasia type 3
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	3198206	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Pontocerebellar hypoplasia type 3
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	3198207	\N	\N	EFO	5	EFO	Rare genetic eye disease	Pontocerebellar hypoplasia type 3
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	4403543	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	4403544	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	4403545	\N	\N	EFO	6	EFO	genetic disorder	Pontocerebellar hypoplasia type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	4403546	\N	\N	EFO	6	EFO	eye disease	Pontocerebellar hypoplasia type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	5419310	\N	\N	EFO	7	EFO	disease	Pontocerebellar hypoplasia type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	5419311	\N	\N	EFO	7	EFO	disease	Pontocerebellar hypoplasia type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	6153573	\N	\N	EFO	8	EFO	disposition	Pontocerebellar hypoplasia type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	6634502	\N	\N	EFO	9	EFO	material property	Pontocerebellar hypoplasia type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97249	"Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." []	6926377	\N	\N	EFO	10	EFO	experimental factor	Pontocerebellar hypoplasia type 3
Orphanet:97286	\N	\N	"" []	Orphanet:97286	"" []	78804	\N	\N	EFO	0	EFO	Carney-Stratakis syndrome	Carney-Stratakis syndrome
Orphanet:100094	Orphanet:97286	\N	"" []	Orphanet:97286	"" []	223758	\N	\N	EFO	1	EFO	Multiple polyglandular tumor	Carney-Stratakis syndrome
Orphanet:183643	Orphanet:100094	\N	"" []	Orphanet:97286	"" []	580436	\N	\N	EFO	2	EFO	Genetic polyendocrinopathy	Carney-Stratakis syndrome
Orphanet:271847	Orphanet:100094	\N	"" []	Orphanet:97286	"" []	580437	\N	\N	EFO	2	EFO	Genetic endocrine tumor	Carney-Stratakis syndrome
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:97286	"" []	1164325	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Carney-Stratakis syndrome
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:97286	"" []	1164326	\N	\N	EFO	3	EFO	endocrine neoplasm	Carney-Stratakis syndrome
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:97286	"" []	1164327	\N	\N	EFO	3	EFO	Rare genetic tumor	Carney-Stratakis syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97286	"" []	2048162	\N	\N	EFO	4	EFO	genetic disorder	Carney-Stratakis syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:97286	"" []	2048163	\N	\N	EFO	4	EFO	endocrine system disease	Carney-Stratakis syndrome
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:97286	"" []	2048164	\N	\N	EFO	4	EFO	neoplasm	Carney-Stratakis syndrome
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:97286	"" []	2048165	\N	\N	EFO	4	EFO	endocrine system disease	Carney-Stratakis syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97286	"" []	2048166	\N	\N	EFO	4	EFO	genetic disorder	Carney-Stratakis syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:97286	"" []	2048167	\N	\N	EFO	4	EFO	neoplasm	Carney-Stratakis syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97286	"" []	3198208	\N	\N	EFO	5	EFO	disease	Carney-Stratakis syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97286	"" []	3198209	\N	\N	EFO	5	EFO	disease	Carney-Stratakis syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97286	"" []	3198210	\N	\N	EFO	5	EFO	disease	Carney-Stratakis syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97286	"" []	4403547	\N	\N	EFO	6	EFO	disposition	Carney-Stratakis syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97286	"" []	5419312	\N	\N	EFO	7	EFO	material property	Carney-Stratakis syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97286	"" []	6153574	\N	\N	EFO	8	EFO	experimental factor	Carney-Stratakis syndrome
Orphanet:97290	\N	\N	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	78805	\N	\N	EFO	0	EFO	Familial papillary thyroid carcinoma with renal papillary neoplasia	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0003841	Orphanet:97290	\N	"A benign or malignant neoplasm affecting the thyroid gland." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	223759	\N	\N	EFO	1	EFO	thyroid neoplasm	Familial papillary thyroid carcinoma with renal papillary neoplasia
Orphanet:319328	Orphanet:97290	\N	"" []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	223760	\N	\N	EFO	1	EFO	Inherited renal cancer-predisposing syndrome	Familial papillary thyroid carcinoma with renal papillary neoplasia
Orphanet:319494	Orphanet:97290	\N	"Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	223761	\N	\N	EFO	1	EFO	Familial nonmedullary thyroid carcinoma	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0003769	EFO:0003841	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	580438	\N	\N	EFO	2	EFO	endocrine neoplasm	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:1000627	EFO:0003841	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	580439	\N	\N	EFO	2	EFO	thyroid disease	Familial papillary thyroid carcinoma with renal papillary neoplasia
Orphanet:140162	Orphanet:319328	\N	"" []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	580440	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Familial papillary thyroid carcinoma with renal papillary neoplasia
Orphanet:271847	Orphanet:319494	\N	"" []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	580441	\N	\N	EFO	2	EFO	Genetic endocrine tumor	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	2048171	\N	\N	EFO	4	EFO	neoplasm	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	2048172	\N	\N	EFO	4	EFO	endocrine system disease	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	1164330	\N	\N	EFO	3	EFO	endocrine system disease	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	1164331	\N	\N	EFO	3	EFO	genetic disorder	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	1164332	\N	\N	EFO	3	EFO	endocrine neoplasm	Familial papillary thyroid carcinoma with renal papillary neoplasia
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	1164333	\N	\N	EFO	3	EFO	Rare genetic tumor	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	3000496	\N	\N	EFO	5	EFO	disease	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	3000497	\N	\N	EFO	5	EFO	disease	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	3198212	\N	\N	EFO	5	EFO	disease	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	2048173	\N	\N	EFO	4	EFO	genetic disorder	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	2048174	\N	\N	EFO	4	EFO	neoplasm	Familial papillary thyroid carcinoma with renal papillary neoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	4134551	\N	\N	EFO	6	EFO	disposition	Familial papillary thyroid carcinoma with renal papillary neoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	5183726	\N	\N	EFO	7	EFO	material property	Familial papillary thyroid carcinoma with renal papillary neoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97290	"Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." []	5999050	\N	\N	EFO	8	EFO	experimental factor	Familial papillary thyroid carcinoma with renal papillary neoplasia
Orphanet:97297	\N	\N	"" []	Orphanet:97297	"" []	78806	\N	\N	EFO	0	EFO	Bohring-Opitz syndrome	Bohring-Opitz syndrome
Orphanet:102283	Orphanet:97297	\N	"" []	Orphanet:97297	"" []	223762	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Bohring-Opitz syndrome
Orphanet:183763	Orphanet:97297	\N	"" []	Orphanet:97297	"" []	223763	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Bohring-Opitz syndrome
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:97297	"" []	580442	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Bohring-Opitz syndrome
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:97297	"" []	580443	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Bohring-Opitz syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:97297	"" []	1164334	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Bohring-Opitz syndrome
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:97297	"" []	1164335	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Bohring-Opitz syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97297	"" []	2048175	\N	\N	EFO	4	EFO	genetic disorder	Bohring-Opitz syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97297	"" []	2048176	\N	\N	EFO	4	EFO	genetic disorder	Bohring-Opitz syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97297	"" []	3198213	\N	\N	EFO	5	EFO	disease	Bohring-Opitz syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97297	"" []	4403549	\N	\N	EFO	6	EFO	disposition	Bohring-Opitz syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97297	"" []	5419314	\N	\N	EFO	7	EFO	material property	Bohring-Opitz syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97297	"" []	6153575	\N	\N	EFO	8	EFO	experimental factor	Bohring-Opitz syndrome
Orphanet:973	\N	\N	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	78807	\N	\N	EFO	0	EFO	Congenital absence/hypoplasia of fingers excluding thumb, unilateral	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:294990	Orphanet:973	\N	"" []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	223764	\N	\N	EFO	1	EFO	Congenital absence/hypoplasia of fingers excluding thumb	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:294931	Orphanet:294990	\N	"" []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	580444	\N	\N	EFO	2	EFO	Adactyly of hand	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:294929	Orphanet:294931	\N	"" []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	1164336	\N	\N	EFO	3	EFO	Terminal limb defects	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:93457	Orphanet:294929	\N	"" []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	2048177	\N	\N	EFO	4	EFO	Non-syndromic limb reduction defect	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:109011	Orphanet:93457	\N	"" []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	3198214	\N	\N	EFO	5	EFO	Non-syndromic limb malformation	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:404571	Orphanet:93457	\N	"" []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	3198215	\N	\N	EFO	5	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:183536	Orphanet:109011	\N	"" []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	4403550	\N	\N	EFO	6	EFO	Genetic congenital limb malformation	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	4403551	\N	\N	EFO	6	EFO	Dysostosis of genetic origin	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	5419315	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	5419316	\N	\N	EFO	7	EFO	Rare genetic bone disease	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	5419317	\N	\N	EFO	7	EFO	Rare genetic bone development disorder	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	6634505	\N	\N	EFO	9	EFO	genetic disorder	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	6153577	\N	\N	EFO	8	EFO	genetic disorder	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	6153578	\N	\N	EFO	8	EFO	bone disease	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	6153579	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	6889628	\N	\N	EFO	10	EFO	disease	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	6634504	\N	\N	EFO	9	EFO	skeletal system disease	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	7086090	\N	\N	EFO	11	EFO	disposition	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	6926379	\N	\N	EFO	10	EFO	disease	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	7204429	\N	\N	EFO	12	EFO	material property	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:973	"Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." []	7286418	\N	\N	EFO	13	EFO	experimental factor	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Orphanet:97340	\N	\N	"" []	Orphanet:97340	"" []	78808	\N	\N	EFO	0	EFO	Hunter-McAlpine craniosynostosis	Hunter-McAlpine craniosynostosis
Orphanet:139393	Orphanet:97340	\N	"" []	Orphanet:97340	"" []	223765	\N	\N	EFO	1	EFO	Syndromic craniosynostosis	Hunter-McAlpine craniosynostosis
Orphanet:1531	Orphanet:139393	\N	"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." []	Orphanet:97340	"" []	580445	\N	\N	EFO	2	EFO	Craniosynostosis	Hunter-McAlpine craniosynostosis
Orphanet:183542	Orphanet:1531	\N	"" []	Orphanet:97340	"" []	1164337	\N	\N	EFO	3	EFO	Genetic cranial malformation	Hunter-McAlpine craniosynostosis
Orphanet:404568	Orphanet:1531	\N	"" []	Orphanet:97340	"" []	1164338	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Hunter-McAlpine craniosynostosis
Orphanet:183530	Orphanet:183542	\N	"" []	Orphanet:97340	"" []	2048178	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hunter-McAlpine craniosynostosis
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:97340	"" []	2048179	\N	\N	EFO	4	EFO	Rare genetic bone disease	Hunter-McAlpine craniosynostosis
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:97340	"" []	2048180	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Hunter-McAlpine craniosynostosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97340	"" []	4403554	\N	\N	EFO	6	EFO	genetic disorder	Hunter-McAlpine craniosynostosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97340	"" []	3198217	\N	\N	EFO	5	EFO	genetic disorder	Hunter-McAlpine craniosynostosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:97340	"" []	3198218	\N	\N	EFO	5	EFO	bone disease	Hunter-McAlpine craniosynostosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:97340	"" []	3198219	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hunter-McAlpine craniosynostosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97340	"" []	5183727	\N	\N	EFO	7	EFO	disease	Hunter-McAlpine craniosynostosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:97340	"" []	4403553	\N	\N	EFO	6	EFO	skeletal system disease	Hunter-McAlpine craniosynostosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97340	"" []	5999051	\N	\N	EFO	8	EFO	disposition	Hunter-McAlpine craniosynostosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97340	"" []	5419319	\N	\N	EFO	7	EFO	disease	Hunter-McAlpine craniosynostosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97340	"" []	6552028	\N	\N	EFO	9	EFO	material property	Hunter-McAlpine craniosynostosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97340	"" []	6889629	\N	\N	EFO	10	EFO	experimental factor	Hunter-McAlpine craniosynostosis
Orphanet:97345	\N	\N	"" []	Orphanet:97345	"" []	78809	\N	\N	EFO	0	EFO	Familial dementia, British type	Familial dementia, British type
Orphanet:276058	Orphanet:97345	\N	"" []	Orphanet:97345	"" []	223766	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease with dementia	Familial dementia, British type
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:97345	"" []	580446	\N	\N	EFO	2	EFO	Genetic dementia	Familial dementia, British type
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:97345	"" []	580447	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Familial dementia, British type
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:97345	"" []	1164339	\N	\N	EFO	3	EFO	brain disease	Familial dementia, British type
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:97345	"" []	1164340	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Familial dementia, British type
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:97345	"" []	1164341	\N	\N	EFO	3	EFO	neurodegenerative disease	Familial dementia, British type
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:97345	"" []	1164342	\N	\N	EFO	3	EFO	brain disease	Familial dementia, British type
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:97345	"" []	1164343	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Familial dementia, British type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:97345	"" []	2048181	\N	\N	EFO	4	EFO	nervous system disease	Familial dementia, British type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97345	"" []	2048182	\N	\N	EFO	4	EFO	genetic disorder	Familial dementia, British type
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:97345	"" []	2048183	\N	\N	EFO	4	EFO	nervous system disease	Familial dementia, British type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97345	"" []	3198220	\N	\N	EFO	5	EFO	disease	Familial dementia, British type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97345	"" []	3198221	\N	\N	EFO	5	EFO	disease	Familial dementia, British type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97345	"" []	4403555	\N	\N	EFO	6	EFO	disposition	Familial dementia, British type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97345	"" []	5419320	\N	\N	EFO	7	EFO	material property	Familial dementia, British type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97345	"" []	6153581	\N	\N	EFO	8	EFO	experimental factor	Familial dementia, British type
Orphanet:97346	\N	\N	"" []	Orphanet:97346	"" []	78810	\N	\N	EFO	0	EFO	Familial dementia, Danish type	Familial dementia, Danish type
Orphanet:276058	Orphanet:97346	\N	"" []	Orphanet:97346	"" []	223767	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease with dementia	Familial dementia, Danish type
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:97346	"" []	580448	\N	\N	EFO	2	EFO	Genetic dementia	Familial dementia, Danish type
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:97346	"" []	580449	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Familial dementia, Danish type
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:97346	"" []	1164344	\N	\N	EFO	3	EFO	brain disease	Familial dementia, Danish type
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:97346	"" []	1164345	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Familial dementia, Danish type
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:97346	"" []	1164346	\N	\N	EFO	3	EFO	neurodegenerative disease	Familial dementia, Danish type
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:97346	"" []	1164347	\N	\N	EFO	3	EFO	brain disease	Familial dementia, Danish type
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:97346	"" []	1164348	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Familial dementia, Danish type
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:97346	"" []	2048184	\N	\N	EFO	4	EFO	nervous system disease	Familial dementia, Danish type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97346	"" []	2048185	\N	\N	EFO	4	EFO	genetic disorder	Familial dementia, Danish type
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:97346	"" []	2048186	\N	\N	EFO	4	EFO	nervous system disease	Familial dementia, Danish type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97346	"" []	3198222	\N	\N	EFO	5	EFO	disease	Familial dementia, Danish type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97346	"" []	3198223	\N	\N	EFO	5	EFO	disease	Familial dementia, Danish type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97346	"" []	4403556	\N	\N	EFO	6	EFO	disposition	Familial dementia, Danish type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97346	"" []	5419321	\N	\N	EFO	7	EFO	material property	Familial dementia, Danish type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97346	"" []	6153582	\N	\N	EFO	8	EFO	experimental factor	Familial dementia, Danish type
Orphanet:97360	\N	\N	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	78811	\N	\N	EFO	0	EFO	Robinow syndrome	Robinow syndrome
Orphanet:183570	Orphanet:97360	\N	"" []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	223768	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Robinow syndrome
Orphanet:330197	Orphanet:97360	\N	"" []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	223769	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Robinow syndrome
Orphanet:93438	Orphanet:97360	\N	"" []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	223770	\N	\N	EFO	1	EFO	Mesomelic and rhizo-mesomelic dysplasia	Robinow syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	580450	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Robinow syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	580451	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Robinow syndrome
Orphanet:364526	Orphanet:93438	\N	"" []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	580452	\N	\N	EFO	2	EFO	Primary bone dysplasia	Robinow syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	3198226	\N	\N	EFO	5	EFO	genetic disorder	Robinow syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	1164350	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Robinow syndrome
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	1164351	\N	\N	EFO	3	EFO	Rare genetic bone disease	Robinow syndrome
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	1164352	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Robinow syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	4067023	\N	\N	EFO	6	EFO	disease	Robinow syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	2048189	\N	\N	EFO	4	EFO	genetic disorder	Robinow syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	2048190	\N	\N	EFO	4	EFO	bone disease	Robinow syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	2048191	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Robinow syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	5060354	\N	\N	EFO	7	EFO	disposition	Robinow syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	3198225	\N	\N	EFO	5	EFO	skeletal system disease	Robinow syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	5877910	\N	\N	EFO	8	EFO	material property	Robinow syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	4403558	\N	\N	EFO	6	EFO	disease	Robinow syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97360	"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." []	6471122	\N	\N	EFO	9	EFO	experimental factor	Robinow syndrome
Orphanet:97361	\N	\N	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	Orphanet:97361	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	78812	\N	\N	EFO	0	EFO	Unilateral renal hypoplasia	Unilateral renal hypoplasia
Orphanet:93101	Orphanet:97361	\N	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	Orphanet:97361	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	223771	\N	\N	EFO	1	EFO	Renal hypoplasia	Unilateral renal hypoplasia
Orphanet:357506	Orphanet:93101	\N	"" []	Orphanet:97361	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	580453	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Unilateral renal hypoplasia
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:97361	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	1164353	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Unilateral renal hypoplasia
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:97361	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	2048192	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Unilateral renal hypoplasia
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:97361	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	2048193	\N	\N	EFO	4	EFO	Rare genetic renal disease	Unilateral renal hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97361	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	3198227	\N	\N	EFO	5	EFO	genetic disorder	Unilateral renal hypoplasia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97361	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	3198228	\N	\N	EFO	5	EFO	genetic disorder	Unilateral renal hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97361	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	4403559	\N	\N	EFO	6	EFO	disease	Unilateral renal hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97361	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	5419323	\N	\N	EFO	7	EFO	disposition	Unilateral renal hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97361	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	6153583	\N	\N	EFO	8	EFO	material property	Unilateral renal hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97361	"Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons." []	6634507	\N	\N	EFO	9	EFO	experimental factor	Unilateral renal hypoplasia
Orphanet:97362	\N	\N	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	Orphanet:97362	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	78813	\N	\N	EFO	0	EFO	Bilateral renal hypoplasia	Bilateral renal hypoplasia
Orphanet:93101	Orphanet:97362	\N	"Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." []	Orphanet:97362	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	223772	\N	\N	EFO	1	EFO	Renal hypoplasia	Bilateral renal hypoplasia
Orphanet:357506	Orphanet:93101	\N	"" []	Orphanet:97362	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	580454	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Bilateral renal hypoplasia
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:97362	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	1164354	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Bilateral renal hypoplasia
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:97362	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	2048194	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Bilateral renal hypoplasia
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:97362	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	2048195	\N	\N	EFO	4	EFO	Rare genetic renal disease	Bilateral renal hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97362	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	3198229	\N	\N	EFO	5	EFO	genetic disorder	Bilateral renal hypoplasia
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97362	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	3198230	\N	\N	EFO	5	EFO	genetic disorder	Bilateral renal hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97362	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	4403560	\N	\N	EFO	6	EFO	disease	Bilateral renal hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97362	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	5419324	\N	\N	EFO	7	EFO	disposition	Bilateral renal hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97362	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	6153584	\N	\N	EFO	8	EFO	material property	Bilateral renal hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97362	"Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons." []	6634508	\N	\N	EFO	9	EFO	experimental factor	Bilateral renal hypoplasia
Orphanet:97363	\N	\N	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	Orphanet:97363	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	78814	\N	\N	EFO	0	EFO	Unilateral multicystic dysplastic kidney	Unilateral multicystic dysplastic kidney
Orphanet:1851	Orphanet:97363	\N	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	Orphanet:97363	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	223773	\N	\N	EFO	1	EFO	Multicystic dysplastic kidney	Unilateral multicystic dysplastic kidney
Orphanet:357506	Orphanet:1851	\N	"" []	Orphanet:97363	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	580455	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Unilateral multicystic dysplastic kidney
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:97363	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	1164355	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Unilateral multicystic dysplastic kidney
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:97363	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	2048196	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Unilateral multicystic dysplastic kidney
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:97363	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	2048197	\N	\N	EFO	4	EFO	Rare genetic renal disease	Unilateral multicystic dysplastic kidney
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97363	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	3198231	\N	\N	EFO	5	EFO	genetic disorder	Unilateral multicystic dysplastic kidney
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97363	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	3198232	\N	\N	EFO	5	EFO	genetic disorder	Unilateral multicystic dysplastic kidney
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97363	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	4403561	\N	\N	EFO	6	EFO	disease	Unilateral multicystic dysplastic kidney
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97363	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	5419325	\N	\N	EFO	7	EFO	disposition	Unilateral multicystic dysplastic kidney
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97363	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	6153585	\N	\N	EFO	8	EFO	material property	Unilateral multicystic dysplastic kidney
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97363	"Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." []	6634509	\N	\N	EFO	9	EFO	experimental factor	Unilateral multicystic dysplastic kidney
Orphanet:97364	\N	\N	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	Orphanet:97364	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	78815	\N	\N	EFO	0	EFO	Bilateral multicystic dysplastic kidney	Bilateral multicystic dysplastic kidney
Orphanet:1851	Orphanet:97364	\N	"Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." []	Orphanet:97364	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	223774	\N	\N	EFO	1	EFO	Multicystic dysplastic kidney	Bilateral multicystic dysplastic kidney
Orphanet:357506	Orphanet:1851	\N	"" []	Orphanet:97364	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	580456	\N	\N	EFO	2	EFO	Genetic non-syndromic renal or urinary tract malformation	Bilateral multicystic dysplastic kidney
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:97364	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	1164356	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Bilateral multicystic dysplastic kidney
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:97364	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	2048198	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Bilateral multicystic dysplastic kidney
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:97364	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	2048199	\N	\N	EFO	4	EFO	Rare genetic renal disease	Bilateral multicystic dysplastic kidney
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97364	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	3198233	\N	\N	EFO	5	EFO	genetic disorder	Bilateral multicystic dysplastic kidney
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97364	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	3198234	\N	\N	EFO	5	EFO	genetic disorder	Bilateral multicystic dysplastic kidney
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97364	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	4403562	\N	\N	EFO	6	EFO	disease	Bilateral multicystic dysplastic kidney
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97364	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	5419326	\N	\N	EFO	7	EFO	disposition	Bilateral multicystic dysplastic kidney
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97364	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	6153586	\N	\N	EFO	8	EFO	material property	Bilateral multicystic dysplastic kidney
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97364	"Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." []	6634510	\N	\N	EFO	9	EFO	experimental factor	Bilateral multicystic dysplastic kidney
Orphanet:97369	\N	\N	"" []	Orphanet:97369	"" []	78816	\N	\N	EFO	0	EFO	Renal tubular dysgenesis of genetic origin	Renal tubular dysgenesis of genetic origin
Orphanet:357506	Orphanet:97369	\N	"" []	Orphanet:97369	"" []	223775	\N	\N	EFO	1	EFO	Genetic non-syndromic renal or urinary tract malformation	Renal tubular dysgenesis of genetic origin
Orphanet:183539	Orphanet:357506	\N	"" []	Orphanet:97369	"" []	580457	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Renal tubular dysgenesis of genetic origin
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:97369	"" []	1164357	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Renal tubular dysgenesis of genetic origin
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:97369	"" []	1164358	\N	\N	EFO	3	EFO	Rare genetic renal disease	Renal tubular dysgenesis of genetic origin
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97369	"" []	2048200	\N	\N	EFO	4	EFO	genetic disorder	Renal tubular dysgenesis of genetic origin
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97369	"" []	2048201	\N	\N	EFO	4	EFO	genetic disorder	Renal tubular dysgenesis of genetic origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97369	"" []	3198235	\N	\N	EFO	5	EFO	disease	Renal tubular dysgenesis of genetic origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97369	"" []	4403563	\N	\N	EFO	6	EFO	disposition	Renal tubular dysgenesis of genetic origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97369	"" []	5419327	\N	\N	EFO	7	EFO	material property	Renal tubular dysgenesis of genetic origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97369	"" []	6153587	\N	\N	EFO	8	EFO	experimental factor	Renal tubular dysgenesis of genetic origin
Orphanet:974	\N	\N	"" []	Orphanet:974	"" []	78817	\N	\N	EFO	0	EFO	Adams-Oliver syndrome	Adams-Oliver syndrome
Orphanet:183481	Orphanet:974	\N	"" []	Orphanet:974	"" []	223776	\N	\N	EFO	1	EFO	Genetic mixed dermis disorder	Adams-Oliver syndrome
Orphanet:404574	Orphanet:974	\N	"" []	Orphanet:974	"" []	223777	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Adams-Oliver syndrome
Orphanet:183472	Orphanet:183481	\N	"" []	Orphanet:974	"" []	580458	\N	\N	EFO	2	EFO	Genetic dermis disorder	Adams-Oliver syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:974	"" []	580459	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Adams-Oliver syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:974	"" []	580460	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Adams-Oliver syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:974	"" []	1164359	\N	\N	EFO	3	EFO	Rare genetic skin disease	Adams-Oliver syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:974	"" []	1164360	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Adams-Oliver syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:974	"" []	1164361	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Adams-Oliver syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:974	"" []	2048202	\N	\N	EFO	4	EFO	genetic disorder	Adams-Oliver syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:974	"" []	2048203	\N	\N	EFO	4	EFO	skin disease	Adams-Oliver syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:974	"" []	2048204	\N	\N	EFO	4	EFO	Rare genetic bone disease	Adams-Oliver syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:974	"" []	2048205	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Adams-Oliver syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:974	"" []	2048206	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Adams-Oliver syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:974	"" []	5183730	\N	\N	EFO	7	EFO	disease	Adams-Oliver syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:974	"" []	3198237	\N	\N	EFO	5	EFO	disease	Adams-Oliver syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:974	"" []	3198238	\N	\N	EFO	5	EFO	genetic disorder	Adams-Oliver syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:974	"" []	3198239	\N	\N	EFO	5	EFO	bone disease	Adams-Oliver syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:974	"" []	3198240	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Adams-Oliver syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:974	"" []	4403567	\N	\N	EFO	6	EFO	genetic disorder	Adams-Oliver syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:974	"" []	5877911	\N	\N	EFO	8	EFO	disposition	Adams-Oliver syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:974	"" []	4403566	\N	\N	EFO	6	EFO	skeletal system disease	Adams-Oliver syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:974	"" []	6471123	\N	\N	EFO	9	EFO	material property	Adams-Oliver syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:974	"" []	5419329	\N	\N	EFO	7	EFO	disease	Adams-Oliver syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:974	"" []	6848918	\N	\N	EFO	10	EFO	experimental factor	Adams-Oliver syndrome
Orphanet:97548	\N	\N	"" []	Orphanet:97548	"" []	78818	\N	\N	EFO	0	EFO	Ivemark syndrome	Ivemark syndrome
Orphanet:93547	Orphanet:97548	\N	"" []	Orphanet:97548	"" []	223778	\N	\N	EFO	1	EFO	Syndromic renal or urinary tract malformation	Ivemark syndrome
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:97548	"" []	580461	\N	\N	EFO	2	EFO	Genetic renal or urinary tract malformation	Ivemark syndrome
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:97548	"" []	1164362	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Ivemark syndrome
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:97548	"" []	1164363	\N	\N	EFO	3	EFO	Rare genetic renal disease	Ivemark syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97548	"" []	2048207	\N	\N	EFO	4	EFO	genetic disorder	Ivemark syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97548	"" []	2048208	\N	\N	EFO	4	EFO	genetic disorder	Ivemark syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97548	"" []	3198242	\N	\N	EFO	5	EFO	disease	Ivemark syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97548	"" []	4403568	\N	\N	EFO	6	EFO	disposition	Ivemark syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97548	"" []	5419330	\N	\N	EFO	7	EFO	material property	Ivemark syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97548	"" []	6153589	\N	\N	EFO	8	EFO	experimental factor	Ivemark syndrome
Orphanet:97555	\N	\N	"" []	Orphanet:97555	"" []	78819	\N	\N	EFO	0	EFO	Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy	Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
Orphanet:84271	Orphanet:97555	\N	"" []	Orphanet:97555	"" []	223779	\N	\N	EFO	1	EFO	Sporadic idiopathic steroid-resistant nephrotic syndrome	Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
Orphanet:102373	Orphanet:84271	\N	"" []	Orphanet:97555	"" []	580462	\N	\N	EFO	2	EFO	Primary glomerular disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:97555	"" []	1164364	\N	\N	EFO	3	EFO	Genetic glomerular disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:97555	"" []	2048209	\N	\N	EFO	4	EFO	Rare genetic renal disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97555	"" []	3198243	\N	\N	EFO	5	EFO	genetic disorder	Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97555	"" []	4403569	\N	\N	EFO	6	EFO	disease	Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97555	"" []	5419331	\N	\N	EFO	7	EFO	disposition	Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97555	"" []	6153590	\N	\N	EFO	8	EFO	material property	Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97555	"" []	6634511	\N	\N	EFO	9	EFO	experimental factor	Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
Orphanet:97556	\N	\N	"" []	Orphanet:97556	"" []	78820	\N	\N	EFO	0	EFO	Congenital and infantile nephrotic syndrome	Congenital and infantile nephrotic syndrome
Orphanet:102373	Orphanet:97556	\N	"" []	Orphanet:97556	"" []	223780	\N	\N	EFO	1	EFO	Primary glomerular disease	Congenital and infantile nephrotic syndrome
Orphanet:183586	Orphanet:102373	\N	"" []	Orphanet:97556	"" []	580463	\N	\N	EFO	2	EFO	Genetic glomerular disease	Congenital and infantile nephrotic syndrome
Orphanet:98056	Orphanet:183586	\N	"" []	Orphanet:97556	"" []	1164365	\N	\N	EFO	3	EFO	Rare genetic renal disease	Congenital and infantile nephrotic syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97556	"" []	2048210	\N	\N	EFO	4	EFO	genetic disorder	Congenital and infantile nephrotic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97556	"" []	3198244	\N	\N	EFO	5	EFO	disease	Congenital and infantile nephrotic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97556	"" []	4403570	\N	\N	EFO	6	EFO	disposition	Congenital and infantile nephrotic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97556	"" []	5419332	\N	\N	EFO	7	EFO	material property	Congenital and infantile nephrotic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97556	"" []	6153591	\N	\N	EFO	8	EFO	experimental factor	Congenital and infantile nephrotic syndrome
Orphanet:97593	\N	\N	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	78821	\N	\N	EFO	0	EFO	Pseudohypoparathyroidism	Pseudohypoparathyroidism
Orphanet:139009	Orphanet:97593	\N	"" []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	223781	\N	\N	EFO	1	EFO	Developmental anomaly of metabolic origin	Pseudohypoparathyroidism
Orphanet:183592	Orphanet:97593	\N	"" []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	223782	\N	\N	EFO	1	EFO	Genetic renal tubular disease	Pseudohypoparathyroidism
Orphanet:208593	Orphanet:97593	\N	"" []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	223783	\N	\N	EFO	1	EFO	Genetic hypoparathyroidism	Pseudohypoparathyroidism
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	580464	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Pseudohypoparathyroidism
Orphanet:98056	Orphanet:183592	\N	"" []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	580465	\N	\N	EFO	2	EFO	Rare genetic renal disease	Pseudohypoparathyroidism
EFO:0005754	Orphanet:208593	\N	"a disease that occurs in the parathyroid" []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	580466	\N	\N	EFO	2	EFO	parathyroid disease	Pseudohypoparathyroidism
Orphanet:183634	Orphanet:208593	\N	"" []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	580467	\N	\N	EFO	2	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Pseudohypoparathyroidism
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	1164366	\N	\N	EFO	3	EFO	genetic disorder	Pseudohypoparathyroidism
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	1164367	\N	\N	EFO	3	EFO	genetic disorder	Pseudohypoparathyroidism
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	1164368	\N	\N	EFO	3	EFO	calcium metabolic disease	Pseudohypoparathyroidism
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	1164369	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Pseudohypoparathyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	3198247	\N	\N	EFO	5	EFO	disease	Pseudohypoparathyroidism
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	2048212	\N	\N	EFO	4	EFO	metabolic disease	Pseudohypoparathyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	2048213	\N	\N	EFO	4	EFO	genetic disorder	Pseudohypoparathyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	2048214	\N	\N	EFO	4	EFO	endocrine system disease	Pseudohypoparathyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	4134553	\N	\N	EFO	6	EFO	disposition	Pseudohypoparathyroidism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	3198246	\N	\N	EFO	5	EFO	disease	Pseudohypoparathyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	3198248	\N	\N	EFO	5	EFO	disease	Pseudohypoparathyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	5183731	\N	\N	EFO	7	EFO	material property	Pseudohypoparathyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97593	"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." []	5999054	\N	\N	EFO	8	EFO	experimental factor	Pseudohypoparathyroidism
Orphanet:976	\N	\N	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	78822	\N	\N	EFO	0	EFO	Adenine phosphoribosyltransferase deficiency	Adenine phosphoribosyltransferase deficiency
Orphanet:79191	Orphanet:976	\N	"" []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	223784	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Adenine phosphoribosyltransferase deficiency
Orphanet:93593	Orphanet:976	\N	"" []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	223785	\N	\N	EFO	1	EFO	Nephropathy secondary to a storage or other metabolic disease	Adenine phosphoribosyltransferase deficiency
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	580468	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Adenine phosphoribosyltransferase deficiency
Orphanet:98056	Orphanet:93593	\N	"" []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	580469	\N	\N	EFO	2	EFO	Rare genetic renal disease	Adenine phosphoribosyltransferase deficiency
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	1164370	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Adenine phosphoribosyltransferase deficiency
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	1164371	\N	\N	EFO	3	EFO	genetic disorder	Adenine phosphoribosyltransferase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	2048215	\N	\N	EFO	4	EFO	genetic disorder	Adenine phosphoribosyltransferase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	2048216	\N	\N	EFO	4	EFO	metabolic disease	Adenine phosphoribosyltransferase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	3198249	\N	\N	EFO	5	EFO	disease	Adenine phosphoribosyltransferase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	3198250	\N	\N	EFO	5	EFO	disease	Adenine phosphoribosyltransferase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	4134554	\N	\N	EFO	6	EFO	disposition	Adenine phosphoribosyltransferase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	5183732	\N	\N	EFO	7	EFO	material property	Adenine phosphoribosyltransferase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:976	"Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." []	5999055	\N	\N	EFO	8	EFO	experimental factor	Adenine phosphoribosyltransferase deficiency
Orphanet:97678	\N	\N	"" []	Orphanet:97678	"" []	78823	\N	\N	EFO	0	EFO	Maternal uniparental disomy of chromosome 13	Maternal uniparental disomy of chromosome 13
Orphanet:98153	Orphanet:97678	\N	"" []	Orphanet:97678	"" []	223786	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Maternal uniparental disomy of chromosome 13
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:97678	"" []	580470	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Maternal uniparental disomy of chromosome 13
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:97678	"" []	1164372	\N	\N	EFO	3	EFO	Autosomal anomaly	Maternal uniparental disomy of chromosome 13
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:97678	"" []	2048218	\N	\N	EFO	4	EFO	Chromosomal anomaly	Maternal uniparental disomy of chromosome 13
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97678	"" []	3198252	\N	\N	EFO	5	EFO	genetic disorder	Maternal uniparental disomy of chromosome 13
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97678	"" []	4403573	\N	\N	EFO	6	EFO	disease	Maternal uniparental disomy of chromosome 13
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97678	"" []	5419335	\N	\N	EFO	7	EFO	disposition	Maternal uniparental disomy of chromosome 13
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97678	"" []	6153592	\N	\N	EFO	8	EFO	material property	Maternal uniparental disomy of chromosome 13
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97678	"" []	6634512	\N	\N	EFO	9	EFO	experimental factor	Maternal uniparental disomy of chromosome 13
Orphanet:97685	\N	\N	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	78824	\N	\N	EFO	0	EFO	17q11 microdeletion syndrome	17q11 microdeletion syndrome
Orphanet:262137	Orphanet:97685	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	223787	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 17	17q11 microdeletion syndrome
Orphanet:636	Orphanet:97685	\N	"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	223788	\N	\N	EFO	1	EFO	Neurofibromatosis type 1	17q11 microdeletion syndrome
Orphanet:261831	Orphanet:262137	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	580471	\N	\N	EFO	2	EFO	Partial deletion of chromosome 17	17q11 microdeletion syndrome
Orphanet:140162	Orphanet:636	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	580472	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	17q11 microdeletion syndrome
Orphanet:156629	Orphanet:636	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	580473	\N	\N	EFO	2	EFO	Genetic hypertension	17q11 microdeletion syndrome
Orphanet:166466	Orphanet:636	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	580474	\N	\N	EFO	2	EFO	Neurocutaneous syndrome with epilepsy	17q11 microdeletion syndrome
Orphanet:183466	Orphanet:636	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	580475	\N	\N	EFO	2	EFO	Genetic hyperpigmentation of the skin	17q11 microdeletion syndrome
Orphanet:98196	Orphanet:636	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	580476	\N	\N	EFO	2	EFO	Malformation syndrome with hamartosis	17q11 microdeletion syndrome
Orphanet:98701	Orphanet:636	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	580477	\N	\N	EFO	2	EFO	Phakomatosis with eye involvement	17q11 microdeletion syndrome
Orphanet:98142	Orphanet:261831	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	1164373	\N	\N	EFO	3	EFO	Partial autosomal monosomy	17q11 microdeletion syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	1164374	\N	\N	EFO	3	EFO	genetic disorder	17q11 microdeletion syndrome
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	1164375	\N	\N	EFO	3	EFO	Rare genetic renal disease	17q11 microdeletion syndrome
Orphanet:183512	Orphanet:166466	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	1164376	\N	\N	EFO	3	EFO	Rare genetic epilepsy	17q11 microdeletion syndrome
Orphanet:183463	Orphanet:183466	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	1164377	\N	\N	EFO	3	EFO	Genetic pigmentation anomaly of the skin	17q11 microdeletion syndrome
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	1164378	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	17q11 microdeletion syndrome
Orphanet:98696	Orphanet:98701	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	1164379	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	17q11 microdeletion syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	2048219	\N	\N	EFO	4	EFO	Autosomal monosomy	17q11 microdeletion syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	6153593	\N	\N	EFO	8	EFO	disease	17q11 microdeletion syndrome
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	2048221	\N	\N	EFO	4	EFO	genetic disorder	17q11 microdeletion syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	2048222	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	17q11 microdeletion syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	2048223	\N	\N	EFO	4	EFO	Rare genetic skin disease	17q11 microdeletion syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	2048224	\N	\N	EFO	4	EFO	genetic disorder	17q11 microdeletion syndrome
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	2048225	\N	\N	EFO	4	EFO	Rare genetic eye disease	17q11 microdeletion syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	3198253	\N	\N	EFO	5	EFO	Autosomal anomaly	17q11 microdeletion syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	6379023	\N	\N	EFO	9	EFO	disposition	17q11 microdeletion syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	3198256	\N	\N	EFO	5	EFO	genetic disorder	17q11 microdeletion syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	3198257	\N	\N	EFO	5	EFO	genetic disorder	17q11 microdeletion syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	3198258	\N	\N	EFO	5	EFO	skin disease	17q11 microdeletion syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	3198259	\N	\N	EFO	5	EFO	genetic disorder	17q11 microdeletion syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	3198260	\N	\N	EFO	5	EFO	eye disease	17q11 microdeletion syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	4403574	\N	\N	EFO	6	EFO	Chromosomal anomaly	17q11 microdeletion syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	6778864	\N	\N	EFO	10	EFO	material property	17q11 microdeletion syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	4403577	\N	\N	EFO	6	EFO	disease	17q11 microdeletion syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	4403578	\N	\N	EFO	6	EFO	disease	17q11 microdeletion syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	5419336	\N	\N	EFO	7	EFO	genetic disorder	17q11 microdeletion syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97685	"17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas." []	7030051	\N	\N	EFO	11	EFO	experimental factor	17q11 microdeletion syndrome
Orphanet:977	\N	\N	"" []	Orphanet:977	"" []	78825	\N	\N	EFO	0	EFO	Adrenomyodystrophy	Adrenomyodystrophy
Orphanet:101960	Orphanet:977	\N	"" []	Orphanet:977	"" []	223789	\N	\N	EFO	1	EFO	Genetic chronic primary adrenal insufficiency	Adrenomyodystrophy
Orphanet:183637	Orphanet:101960	\N	"" []	Orphanet:977	"" []	580478	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Adrenomyodystrophy
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:977	"" []	1164380	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Adrenomyodystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:977	"" []	2048226	\N	\N	EFO	4	EFO	genetic disorder	Adrenomyodystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:977	"" []	2048227	\N	\N	EFO	4	EFO	endocrine system disease	Adrenomyodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:977	"" []	3198261	\N	\N	EFO	5	EFO	disease	Adrenomyodystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:977	"" []	3198262	\N	\N	EFO	5	EFO	disease	Adrenomyodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:977	"" []	4403579	\N	\N	EFO	6	EFO	disposition	Adrenomyodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:977	"" []	5419338	\N	\N	EFO	7	EFO	material property	Adrenomyodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:977	"" []	6153594	\N	\N	EFO	8	EFO	experimental factor	Adrenomyodystrophy
Orphanet:978	\N	\N	"" []	Orphanet:978	"" []	78826	\N	\N	EFO	0	EFO	ADULT syndrome	ADULT syndrome
Orphanet:183580	Orphanet:978	\N	"" []	Orphanet:978	"" []	223790	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	ADULT syndrome
Orphanet:404574	Orphanet:978	\N	"" []	Orphanet:978	"" []	223791	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	ADULT syndrome
Orphanet:98609	Orphanet:978	\N	"" []	Orphanet:978	"" []	223792	\N	\N	EFO	1	EFO	EEC syndrome and related syndrome	ADULT syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:978	"" []	580479	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	ADULT syndrome
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:978	"" []	580480	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	ADULT syndrome
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:978	"" []	580481	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	ADULT syndrome
Orphanet:79373	Orphanet:98609	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:978	"" []	580482	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	ADULT syndrome
Orphanet:98608	Orphanet:98609	\N	"" []	Orphanet:978	"" []	580483	\N	\N	EFO	2	EFO	Anomaly of the secretory and excretory apparatus of the lacrimal system	ADULT syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:978	"" []	4403582	\N	\N	EFO	6	EFO	genetic disorder	ADULT syndrome
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:978	"" []	1164382	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	ADULT syndrome
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:978	"" []	1164383	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	ADULT syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:978	"" []	1164384	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	ADULT syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:978	"" []	1164385	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	ADULT syndrome
Orphanet:98602	Orphanet:98608	\N	"" []	Orphanet:978	"" []	1164386	\N	\N	EFO	3	EFO	Rare lacrimal system disease	ADULT syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:978	"" []	5028495	\N	\N	EFO	7	EFO	disease	ADULT syndrome
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:978	"" []	2048229	\N	\N	EFO	4	EFO	Rare genetic bone disease	ADULT syndrome
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:978	"" []	2048230	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	ADULT syndrome
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:978	"" []	2048231	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	ADULT syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:978	"" []	2048232	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	ADULT syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:978	"" []	2048233	\N	\N	EFO	4	EFO	Rare genetic skin disease	ADULT syndrome
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:978	"" []	2048234	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	ADULT syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:978	"" []	5817929	\N	\N	EFO	8	EFO	disposition	ADULT syndrome
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:978	"" []	3198264	\N	\N	EFO	5	EFO	genetic disorder	ADULT syndrome
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:978	"" []	3198265	\N	\N	EFO	5	EFO	bone disease	ADULT syndrome
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:978	"" []	3198266	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	ADULT syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:978	"" []	3198268	\N	\N	EFO	5	EFO	genetic disorder	ADULT syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:978	"" []	3198269	\N	\N	EFO	5	EFO	skin disease	ADULT syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:978	"" []	3198270	\N	\N	EFO	5	EFO	Rare genetic eye disease	ADULT syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:978	"" []	6410448	\N	\N	EFO	9	EFO	material property	ADULT syndrome
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:978	"" []	4403581	\N	\N	EFO	6	EFO	skeletal system disease	ADULT syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:978	"" []	4403583	\N	\N	EFO	6	EFO	disease	ADULT syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:978	"" []	4403584	\N	\N	EFO	6	EFO	genetic disorder	ADULT syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:978	"" []	4403585	\N	\N	EFO	6	EFO	eye disease	ADULT syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:978	"" []	6808250	\N	\N	EFO	10	EFO	experimental factor	ADULT syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:978	"" []	5419340	\N	\N	EFO	7	EFO	disease	ADULT syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:978	"" []	5419341	\N	\N	EFO	7	EFO	disease	ADULT syndrome
Orphanet:97927	\N	\N	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	78827	\N	\N	EFO	0	EFO	Peripheral resistance to thyroid hormones	Peripheral resistance to thyroid hormones
Orphanet:226310	Orphanet:97927	\N	"Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	223793	\N	\N	EFO	1	EFO	Peripheral hypothyroidism	Peripheral resistance to thyroid hormones
Orphanet:226292	Orphanet:226310	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	580484	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Peripheral resistance to thyroid hormones
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	1164387	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Peripheral resistance to thyroid hormones
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	2048235	\N	\N	EFO	4	EFO	Rare hypothyroidism	Peripheral resistance to thyroid hormones
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	3198271	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Peripheral resistance to thyroid hormones
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	4403586	\N	\N	EFO	6	EFO	thyroid disease	Peripheral resistance to thyroid hormones
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	4403587	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Peripheral resistance to thyroid hormones
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	5419342	\N	\N	EFO	7	EFO	endocrine system disease	Peripheral resistance to thyroid hormones
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	5419343	\N	\N	EFO	7	EFO	genetic disorder	Peripheral resistance to thyroid hormones
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	5419344	\N	\N	EFO	7	EFO	endocrine system disease	Peripheral resistance to thyroid hormones
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	6153595	\N	\N	EFO	8	EFO	disease	Peripheral resistance to thyroid hormones
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	6153596	\N	\N	EFO	8	EFO	disease	Peripheral resistance to thyroid hormones
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	6634513	\N	\N	EFO	9	EFO	disposition	Peripheral resistance to thyroid hormones
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	6926380	\N	\N	EFO	10	EFO	material property	Peripheral resistance to thyroid hormones
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97927	"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." []	7099373	\N	\N	EFO	11	EFO	experimental factor	Peripheral resistance to thyroid hormones
Orphanet:97944	\N	\N	"" []	Orphanet:97944	"" []	78828	\N	\N	EFO	0	EFO	Gastroduodenal malformation	Gastroduodenal malformation
Orphanet:183545	Orphanet:97944	\N	"" []	Orphanet:97944	"" []	223794	\N	\N	EFO	1	EFO	Genetic digestive tract malformation	Gastroduodenal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:97944	"" []	580485	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Gastroduodenal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97944	"" []	1164388	\N	\N	EFO	3	EFO	genetic disorder	Gastroduodenal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97944	"" []	2048236	\N	\N	EFO	4	EFO	disease	Gastroduodenal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97944	"" []	3198272	\N	\N	EFO	5	EFO	disposition	Gastroduodenal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97944	"" []	4403588	\N	\N	EFO	6	EFO	material property	Gastroduodenal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97944	"" []	5419345	\N	\N	EFO	7	EFO	experimental factor	Gastroduodenal malformation
Orphanet:97945	\N	\N	"" []	Orphanet:97945	"" []	78829	\N	\N	EFO	0	EFO	Intestinal malformation	Intestinal malformation
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:97945	"" []	223795	\N	\N	EFO	1	EFO	Genetic digestive tract malformation	Intestinal malformation
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:97945	"" []	580486	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Intestinal malformation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:97945	"" []	1164389	\N	\N	EFO	3	EFO	genetic disorder	Intestinal malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:97945	"" []	2048237	\N	\N	EFO	4	EFO	disease	Intestinal malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:97945	"" []	3198273	\N	\N	EFO	5	EFO	disposition	Intestinal malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:97945	"" []	4403589	\N	\N	EFO	6	EFO	material property	Intestinal malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:97945	"" []	5419346	\N	\N	EFO	7	EFO	experimental factor	Intestinal malformation
Orphanet:98	\N	\N	"" []	Orphanet:98	"" []	78830	\N	\N	EFO	0	EFO	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Orphanet:316240	Orphanet:98	\N	"" []	Orphanet:98	"" []	223796	\N	\N	EFO	1	EFO	Autosomal recessive spastic ataxia	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Orphanet:316226	Orphanet:316240	\N	"" []	Orphanet:98	"" []	580487	\N	\N	EFO	2	EFO	Spastic ataxia	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Orphanet:183518	Orphanet:316226	\N	"" []	Orphanet:98	"" []	1164390	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98	"" []	2048238	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98	"" []	3198274	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98	"" []	4403590	\N	\N	EFO	6	EFO	disease	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98	"" []	5419347	\N	\N	EFO	7	EFO	disposition	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98	"" []	6153597	\N	\N	EFO	8	EFO	material property	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98	"" []	6634514	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Orphanet:98054	\N	\N	"" []	Orphanet:98054	"" []	78831	\N	\N	EFO	0	EFO	Rare genetic cardiac disease	Rare genetic cardiac disease
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98054	"" []	223797	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic cardiac disease
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98054	"" []	223798	\N	\N	EFO	1	EFO	heart disease	Rare genetic cardiac disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98054	"" []	580488	\N	\N	EFO	2	EFO	disease	Rare genetic cardiac disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:98054	"" []	580489	\N	\N	EFO	2	EFO	cardiovascular disease	Rare genetic cardiac disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98054	"" []	2048240	\N	\N	EFO	4	EFO	disposition	Rare genetic cardiac disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98054	"" []	1164392	\N	\N	EFO	3	EFO	disease	Rare genetic cardiac disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98054	"" []	3000499	\N	\N	EFO	5	EFO	material property	Rare genetic cardiac disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98054	"" []	4134556	\N	\N	EFO	6	EFO	experimental factor	Rare genetic cardiac disease
Orphanet:98056	\N	\N	"" []	Orphanet:98056	"" []	78832	\N	\N	EFO	0	EFO	Rare genetic renal disease	Rare genetic renal disease
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98056	"" []	223799	\N	\N	EFO	1	EFO	genetic disorder	Rare genetic renal disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98056	"" []	580490	\N	\N	EFO	2	EFO	disease	Rare genetic renal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98056	"" []	1164393	\N	\N	EFO	3	EFO	disposition	Rare genetic renal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98056	"" []	2048241	\N	\N	EFO	4	EFO	material property	Rare genetic renal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98056	"" []	3198276	\N	\N	EFO	5	EFO	experimental factor	Rare genetic renal disease
Orphanet:98074	\N	\N	"" []	Orphanet:98074	"" []	78833	\N	\N	EFO	0	EFO	Gonadal dysgenesis of gynecological interest	Gonadal dysgenesis of gynecological interest
Orphanet:325665	Orphanet:98074	\N	"" []	Orphanet:98074	"" []	223800	\N	\N	EFO	1	EFO	Genetic disorder of sex development of gynecological interest	Gonadal dysgenesis of gynecological interest
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:98074	"" []	580491	\N	\N	EFO	2	EFO	Rare genetic gynecological and obstetrical diseases	Gonadal dysgenesis of gynecological interest
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98074	"" []	1164394	\N	\N	EFO	3	EFO	genetic disorder	Gonadal dysgenesis of gynecological interest
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:98074	"" []	1164395	\N	\N	EFO	3	EFO	reproductive system disease	Gonadal dysgenesis of gynecological interest
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98074	"" []	2048242	\N	\N	EFO	4	EFO	disease	Gonadal dysgenesis of gynecological interest
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98074	"" []	2048243	\N	\N	EFO	4	EFO	disease	Gonadal dysgenesis of gynecological interest
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98074	"" []	3198277	\N	\N	EFO	5	EFO	disposition	Gonadal dysgenesis of gynecological interest
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98074	"" []	4403591	\N	\N	EFO	6	EFO	material property	Gonadal dysgenesis of gynecological interest
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98074	"" []	5419348	\N	\N	EFO	7	EFO	experimental factor	Gonadal dysgenesis of gynecological interest
Orphanet:98086	\N	\N	"" []	Orphanet:98086	"" []	78834	\N	\N	EFO	0	EFO	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Orphanet:325357	Orphanet:98086	\N	"" []	Orphanet:98086	"" []	223801	\N	\N	EFO	1	EFO	46,XY disorder of sex development due to impaired androgen production	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Orphanet:325632	Orphanet:98086	\N	"" []	Orphanet:98086	"" []	223802	\N	\N	EFO	1	EFO	46,XY disorder of sex development of gynecological interest	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Orphanet:325713	Orphanet:325357	\N	"" []	Orphanet:98086	"" []	580492	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development of endocrine origin	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:98086	"" []	580493	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:98086	"" []	1164396	\N	\N	EFO	3	EFO	Genetic 46,XY disorder of sex development	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:98086	"" []	1164397	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:98086	"" []	2048244	\N	\N	EFO	4	EFO	Genetic disorder of sex development	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98086	"" []	2048245	\N	\N	EFO	4	EFO	genetic disorder	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:98086	"" []	2048246	\N	\N	EFO	4	EFO	reproductive system disease	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:98086	"" []	3198278	\N	\N	EFO	5	EFO	Rare genetic urogenital disease	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:98086	"" []	3198279	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:98086	"" []	3198280	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98086	"" []	5419349	\N	\N	EFO	7	EFO	disease	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98086	"" []	3198282	\N	\N	EFO	5	EFO	disease	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98086	"" []	4403592	\N	\N	EFO	6	EFO	genetic disorder	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98086	"" []	4403593	\N	\N	EFO	6	EFO	genetic disorder	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:98086	"" []	4403594	\N	\N	EFO	6	EFO	endocrine system disease	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98086	"" []	4403595	\N	\N	EFO	6	EFO	genetic disorder	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98086	"" []	5877914	\N	\N	EFO	8	EFO	disposition	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98086	"" []	5419350	\N	\N	EFO	7	EFO	disease	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98086	"" []	6471126	\N	\N	EFO	9	EFO	material property	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98086	"" []	6848919	\N	\N	EFO	10	EFO	experimental factor	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Orphanet:98087	\N	\N	"" []	Orphanet:98087	"" []	78835	\N	\N	EFO	0	EFO	Syndrome with 46,XY disorder of sex development	Syndrome with 46,XY disorder of sex development
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:98087	"" []	223803	\N	\N	EFO	1	EFO	Genetic 46,XY disorder of sex development	Syndrome with 46,XY disorder of sex development
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:98087	"" []	580494	\N	\N	EFO	2	EFO	Genetic disorder of sex development	Syndrome with 46,XY disorder of sex development
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:98087	"" []	1164398	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	Syndrome with 46,XY disorder of sex development
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:98087	"" []	1164399	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Syndrome with 46,XY disorder of sex development
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:98087	"" []	1164400	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Syndrome with 46,XY disorder of sex development
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98087	"" []	2048247	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with 46,XY disorder of sex development
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98087	"" []	2048248	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with 46,XY disorder of sex development
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:98087	"" []	2048249	\N	\N	EFO	4	EFO	endocrine system disease	Syndrome with 46,XY disorder of sex development
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98087	"" []	2048250	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with 46,XY disorder of sex development
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98087	"" []	3198283	\N	\N	EFO	5	EFO	disease	Syndrome with 46,XY disorder of sex development
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98087	"" []	3198284	\N	\N	EFO	5	EFO	disease	Syndrome with 46,XY disorder of sex development
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98087	"" []	4403597	\N	\N	EFO	6	EFO	disposition	Syndrome with 46,XY disorder of sex development
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98087	"" []	5419352	\N	\N	EFO	7	EFO	material property	Syndrome with 46,XY disorder of sex development
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98087	"" []	6153599	\N	\N	EFO	8	EFO	experimental factor	Syndrome with 46,XY disorder of sex development
Orphanet:98095	\N	\N	"" []	Orphanet:98095	"" []	78836	\N	\N	EFO	0	EFO	Autosomal recessive congenital cerebellar ataxia	Autosomal recessive congenital cerebellar ataxia
Orphanet:1172	Orphanet:98095	\N	"" []	Orphanet:98095	"" []	223804	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive congenital cerebellar ataxia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:98095	"" []	580495	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal recessive congenital cerebellar ataxia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:98095	"" []	580496	\N	\N	EFO	2	EFO	Early-onset ataxia with dementia	Autosomal recessive congenital cerebellar ataxia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:98095	"" []	580497	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive congenital cerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98095	"" []	1164401	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive congenital cerebellar ataxia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:98095	"" []	1164402	\N	\N	EFO	3	EFO	Ataxia with dementia	Autosomal recessive congenital cerebellar ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98095	"" []	1164403	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Autosomal recessive congenital cerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98095	"" []	5419355	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive congenital cerebellar ataxia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98095	"" []	2048252	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive congenital cerebellar ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98095	"" []	2048253	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive congenital cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98095	"" []	5817930	\N	\N	EFO	8	EFO	disease	Autosomal recessive congenital cerebellar ataxia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98095	"" []	3198286	\N	\N	EFO	5	EFO	Genetic dementia	Autosomal recessive congenital cerebellar ataxia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98095	"" []	3198287	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Autosomal recessive congenital cerebellar ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98095	"" []	3198288	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive congenital cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98095	"" []	6410449	\N	\N	EFO	9	EFO	disposition	Autosomal recessive congenital cerebellar ataxia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98095	"" []	4403599	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive congenital cerebellar ataxia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98095	"" []	4403600	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive congenital cerebellar ataxia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98095	"" []	4403601	\N	\N	EFO	6	EFO	neurodegenerative disease	Autosomal recessive congenital cerebellar ataxia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98095	"" []	4403602	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive congenital cerebellar ataxia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98095	"" []	4403603	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive congenital cerebellar ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98095	"" []	4403604	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive congenital cerebellar ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98095	"" []	4403605	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive congenital cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98095	"" []	6808251	\N	\N	EFO	10	EFO	material property	Autosomal recessive congenital cerebellar ataxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98095	"" []	5419354	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive congenital cerebellar ataxia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98095	"" []	5419356	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive congenital cerebellar ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98095	"" []	5419358	\N	\N	EFO	7	EFO	disease	Autosomal recessive congenital cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98095	"" []	7048865	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive congenital cerebellar ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98095	"" []	6153601	\N	\N	EFO	8	EFO	disease	Autosomal recessive congenital cerebellar ataxia
Orphanet:98096	\N	\N	"" []	Orphanet:98096	"" []	78837	\N	\N	EFO	0	EFO	Autosomal recessive metabolic cerebellar ataxia	Autosomal recessive metabolic cerebellar ataxia
Orphanet:1172	Orphanet:98096	\N	"" []	Orphanet:98096	"" []	223805	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive metabolic cerebellar ataxia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:98096	"" []	580498	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal recessive metabolic cerebellar ataxia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:98096	"" []	580499	\N	\N	EFO	2	EFO	Early-onset ataxia with dementia	Autosomal recessive metabolic cerebellar ataxia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:98096	"" []	580500	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive metabolic cerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98096	"" []	1164404	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive metabolic cerebellar ataxia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:98096	"" []	1164405	\N	\N	EFO	3	EFO	Ataxia with dementia	Autosomal recessive metabolic cerebellar ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98096	"" []	1164406	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Autosomal recessive metabolic cerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98096	"" []	5419361	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive metabolic cerebellar ataxia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98096	"" []	2048255	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive metabolic cerebellar ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98096	"" []	2048256	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive metabolic cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98096	"" []	5817931	\N	\N	EFO	8	EFO	disease	Autosomal recessive metabolic cerebellar ataxia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98096	"" []	3198290	\N	\N	EFO	5	EFO	Genetic dementia	Autosomal recessive metabolic cerebellar ataxia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98096	"" []	3198291	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Autosomal recessive metabolic cerebellar ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98096	"" []	3198292	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive metabolic cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98096	"" []	6410450	\N	\N	EFO	9	EFO	disposition	Autosomal recessive metabolic cerebellar ataxia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98096	"" []	4403607	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive metabolic cerebellar ataxia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98096	"" []	4403608	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive metabolic cerebellar ataxia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98096	"" []	4403609	\N	\N	EFO	6	EFO	neurodegenerative disease	Autosomal recessive metabolic cerebellar ataxia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98096	"" []	4403610	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive metabolic cerebellar ataxia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98096	"" []	4403611	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive metabolic cerebellar ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98096	"" []	4403612	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive metabolic cerebellar ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98096	"" []	4403613	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive metabolic cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98096	"" []	6808252	\N	\N	EFO	10	EFO	material property	Autosomal recessive metabolic cerebellar ataxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98096	"" []	5419360	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive metabolic cerebellar ataxia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98096	"" []	5419362	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive metabolic cerebellar ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98096	"" []	5419364	\N	\N	EFO	7	EFO	disease	Autosomal recessive metabolic cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98096	"" []	7048866	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive metabolic cerebellar ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98096	"" []	6153603	\N	\N	EFO	8	EFO	disease	Autosomal recessive metabolic cerebellar ataxia
Orphanet:98097	\N	\N	"" []	Orphanet:98097	"" []	78838	\N	\N	EFO	0	EFO	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:1172	Orphanet:98097	\N	"" []	Orphanet:98097	"" []	223806	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:98097	"" []	580501	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:98097	"" []	580502	\N	\N	EFO	2	EFO	Early-onset ataxia with dementia	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:98097	"" []	580503	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98097	"" []	1164407	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:98097	"" []	1164408	\N	\N	EFO	3	EFO	Ataxia with dementia	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98097	"" []	1164409	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Autosomal recessive cerebellar ataxia due to a DNA repair defect
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98097	"" []	5419367	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98097	"" []	2048258	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98097	"" []	2048259	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive cerebellar ataxia due to a DNA repair defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98097	"" []	5817932	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98097	"" []	3198294	\N	\N	EFO	5	EFO	Genetic dementia	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98097	"" []	3198295	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98097	"" []	3198296	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive cerebellar ataxia due to a DNA repair defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98097	"" []	6410451	\N	\N	EFO	9	EFO	disposition	Autosomal recessive cerebellar ataxia due to a DNA repair defect
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98097	"" []	4403615	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98097	"" []	4403616	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia due to a DNA repair defect
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98097	"" []	4403617	\N	\N	EFO	6	EFO	neurodegenerative disease	Autosomal recessive cerebellar ataxia due to a DNA repair defect
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98097	"" []	4403618	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98097	"" []	4403619	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive cerebellar ataxia due to a DNA repair defect
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98097	"" []	4403620	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive cerebellar ataxia due to a DNA repair defect
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98097	"" []	4403621	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive cerebellar ataxia due to a DNA repair defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98097	"" []	6808253	\N	\N	EFO	10	EFO	material property	Autosomal recessive cerebellar ataxia due to a DNA repair defect
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98097	"" []	5419366	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive cerebellar ataxia due to a DNA repair defect
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98097	"" []	5419368	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive cerebellar ataxia due to a DNA repair defect
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98097	"" []	5419370	\N	\N	EFO	7	EFO	disease	Autosomal recessive cerebellar ataxia due to a DNA repair defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98097	"" []	7048867	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive cerebellar ataxia due to a DNA repair defect
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98097	"" []	6153605	\N	\N	EFO	8	EFO	disease	Autosomal recessive cerebellar ataxia due to a DNA repair defect
Orphanet:98098	\N	\N	"" []	Orphanet:98098	"" []	78839	\N	\N	EFO	0	EFO	Autosomal recessive degenerative and progressive cerebellar ataxia	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:1172	Orphanet:98098	\N	"" []	Orphanet:98098	"" []	223807	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:98098	"" []	580504	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:98098	"" []	580505	\N	\N	EFO	2	EFO	Early-onset ataxia with dementia	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:98098	"" []	580506	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98098	"" []	1164410	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:98098	"" []	1164411	\N	\N	EFO	3	EFO	Ataxia with dementia	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98098	"" []	1164412	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Autosomal recessive degenerative and progressive cerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98098	"" []	5419373	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98098	"" []	2048261	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98098	"" []	2048262	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive degenerative and progressive cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98098	"" []	5817933	\N	\N	EFO	8	EFO	disease	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98098	"" []	3198298	\N	\N	EFO	5	EFO	Genetic dementia	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98098	"" []	3198299	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98098	"" []	3198300	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive degenerative and progressive cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98098	"" []	6410452	\N	\N	EFO	9	EFO	disposition	Autosomal recessive degenerative and progressive cerebellar ataxia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98098	"" []	4403623	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98098	"" []	4403624	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive degenerative and progressive cerebellar ataxia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98098	"" []	4403625	\N	\N	EFO	6	EFO	neurodegenerative disease	Autosomal recessive degenerative and progressive cerebellar ataxia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98098	"" []	4403626	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98098	"" []	4403627	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive degenerative and progressive cerebellar ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98098	"" []	4403628	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive degenerative and progressive cerebellar ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98098	"" []	4403629	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive degenerative and progressive cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98098	"" []	6808254	\N	\N	EFO	10	EFO	material property	Autosomal recessive degenerative and progressive cerebellar ataxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98098	"" []	5419372	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive degenerative and progressive cerebellar ataxia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98098	"" []	5419374	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive degenerative and progressive cerebellar ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98098	"" []	5419376	\N	\N	EFO	7	EFO	disease	Autosomal recessive degenerative and progressive cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98098	"" []	7048868	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive degenerative and progressive cerebellar ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98098	"" []	6153607	\N	\N	EFO	8	EFO	disease	Autosomal recessive degenerative and progressive cerebellar ataxia
Orphanet:98099	\N	\N	"" []	Orphanet:98099	"" []	78840	\N	\N	EFO	0	EFO	Autosomal recessive syndromic cerebellar ataxia	Autosomal recessive syndromic cerebellar ataxia
Orphanet:1172	Orphanet:98099	\N	"" []	Orphanet:98099	"" []	223808	\N	\N	EFO	1	EFO	Autosomal recessive cerebellar ataxia	Autosomal recessive syndromic cerebellar ataxia
Orphanet:183518	Orphanet:1172	\N	"" []	Orphanet:98099	"" []	580507	\N	\N	EFO	2	EFO	Rare hereditary ataxia	Autosomal recessive syndromic cerebellar ataxia
Orphanet:98539	Orphanet:1172	\N	"" []	Orphanet:98099	"" []	580508	\N	\N	EFO	2	EFO	Early-onset ataxia with dementia	Autosomal recessive syndromic cerebellar ataxia
Orphanet:98693	Orphanet:1172	\N	"" []	Orphanet:98099	"" []	580509	\N	\N	EFO	2	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal recessive syndromic cerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98099	"" []	1164413	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal recessive syndromic cerebellar ataxia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:98099	"" []	1164414	\N	\N	EFO	3	EFO	Ataxia with dementia	Autosomal recessive syndromic cerebellar ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98099	"" []	1164415	\N	\N	EFO	3	EFO	Nervous system anomaly with eye involvement	Autosomal recessive syndromic cerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98099	"" []	5419379	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive syndromic cerebellar ataxia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98099	"" []	2048264	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease with dementia	Autosomal recessive syndromic cerebellar ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98099	"" []	2048265	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Autosomal recessive syndromic cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98099	"" []	5817934	\N	\N	EFO	8	EFO	disease	Autosomal recessive syndromic cerebellar ataxia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98099	"" []	3198302	\N	\N	EFO	5	EFO	Genetic dementia	Autosomal recessive syndromic cerebellar ataxia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98099	"" []	3198303	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease	Autosomal recessive syndromic cerebellar ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98099	"" []	3198304	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive syndromic cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98099	"" []	6410453	\N	\N	EFO	9	EFO	disposition	Autosomal recessive syndromic cerebellar ataxia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98099	"" []	4403631	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive syndromic cerebellar ataxia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98099	"" []	4403632	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive syndromic cerebellar ataxia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98099	"" []	4403633	\N	\N	EFO	6	EFO	neurodegenerative disease	Autosomal recessive syndromic cerebellar ataxia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98099	"" []	4403634	\N	\N	EFO	6	EFO	brain disease	Autosomal recessive syndromic cerebellar ataxia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98099	"" []	4403635	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive syndromic cerebellar ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98099	"" []	4403636	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive syndromic cerebellar ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98099	"" []	4403637	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive syndromic cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98099	"" []	6808255	\N	\N	EFO	10	EFO	material property	Autosomal recessive syndromic cerebellar ataxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98099	"" []	5419378	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive syndromic cerebellar ataxia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98099	"" []	5419380	\N	\N	EFO	7	EFO	nervous system disease	Autosomal recessive syndromic cerebellar ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98099	"" []	5419382	\N	\N	EFO	7	EFO	disease	Autosomal recessive syndromic cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98099	"" []	7048869	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive syndromic cerebellar ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98099	"" []	6153609	\N	\N	EFO	8	EFO	disease	Autosomal recessive syndromic cerebellar ataxia
Orphanet:98127	\N	\N	"" []	Orphanet:98127	"" []	78841	\N	\N	EFO	0	EFO	Autosomal anomaly	Autosomal anomaly
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98127	"" []	223809	\N	\N	EFO	1	EFO	Chromosomal anomaly	Autosomal anomaly
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98127	"" []	580510	\N	\N	EFO	2	EFO	genetic disorder	Autosomal anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98127	"" []	1164416	\N	\N	EFO	3	EFO	disease	Autosomal anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98127	"" []	2048266	\N	\N	EFO	4	EFO	disposition	Autosomal anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98127	"" []	3198305	\N	\N	EFO	5	EFO	material property	Autosomal anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98127	"" []	4403638	\N	\N	EFO	6	EFO	experimental factor	Autosomal anomaly
Orphanet:98130	\N	\N	"" []	Orphanet:98130	"" []	78842	\N	\N	EFO	0	EFO	Autosomal trisomy	Autosomal trisomy
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:98130	"" []	223810	\N	\N	EFO	1	EFO	Autosomal anomaly	Autosomal trisomy
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98130	"" []	580511	\N	\N	EFO	2	EFO	Chromosomal anomaly	Autosomal trisomy
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98130	"" []	1164417	\N	\N	EFO	3	EFO	genetic disorder	Autosomal trisomy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98130	"" []	2048267	\N	\N	EFO	4	EFO	disease	Autosomal trisomy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98130	"" []	3198306	\N	\N	EFO	5	EFO	disposition	Autosomal trisomy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98130	"" []	4403639	\N	\N	EFO	6	EFO	material property	Autosomal trisomy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98130	"" []	5419383	\N	\N	EFO	7	EFO	experimental factor	Autosomal trisomy
Orphanet:98131	\N	\N	"" []	Orphanet:98131	"" []	78843	\N	\N	EFO	0	EFO	Total autosomal trisomy	Total autosomal trisomy
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:98131	"" []	223811	\N	\N	EFO	1	EFO	Autosomal trisomy	Total autosomal trisomy
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:98131	"" []	580512	\N	\N	EFO	2	EFO	Autosomal anomaly	Total autosomal trisomy
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98131	"" []	1164418	\N	\N	EFO	3	EFO	Chromosomal anomaly	Total autosomal trisomy
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98131	"" []	2048268	\N	\N	EFO	4	EFO	genetic disorder	Total autosomal trisomy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98131	"" []	3198307	\N	\N	EFO	5	EFO	disease	Total autosomal trisomy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98131	"" []	4403640	\N	\N	EFO	6	EFO	disposition	Total autosomal trisomy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98131	"" []	5419384	\N	\N	EFO	7	EFO	material property	Total autosomal trisomy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98131	"" []	6153610	\N	\N	EFO	8	EFO	experimental factor	Total autosomal trisomy
Orphanet:98132	\N	\N	"" []	Orphanet:98132	"" []	78844	\N	\N	EFO	0	EFO	Partial autosomal trisomy/tetrasomy	Partial autosomal trisomy/tetrasomy
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:98132	"" []	223812	\N	\N	EFO	1	EFO	Autosomal trisomy	Partial autosomal trisomy/tetrasomy
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:98132	"" []	580513	\N	\N	EFO	2	EFO	Autosomal anomaly	Partial autosomal trisomy/tetrasomy
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98132	"" []	1164419	\N	\N	EFO	3	EFO	Chromosomal anomaly	Partial autosomal trisomy/tetrasomy
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98132	"" []	2048269	\N	\N	EFO	4	EFO	genetic disorder	Partial autosomal trisomy/tetrasomy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98132	"" []	3198308	\N	\N	EFO	5	EFO	disease	Partial autosomal trisomy/tetrasomy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98132	"" []	4403641	\N	\N	EFO	6	EFO	disposition	Partial autosomal trisomy/tetrasomy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98132	"" []	5419385	\N	\N	EFO	7	EFO	material property	Partial autosomal trisomy/tetrasomy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98132	"" []	6153611	\N	\N	EFO	8	EFO	experimental factor	Partial autosomal trisomy/tetrasomy
Orphanet:98141	\N	\N	"" []	Orphanet:98141	"" []	78845	\N	\N	EFO	0	EFO	Total autosomal monosomy	Total autosomal monosomy
Orphanet:102020	Orphanet:98141	\N	"" []	Orphanet:98141	"" []	223813	\N	\N	EFO	1	EFO	Autosomal monosomy	Total autosomal monosomy
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:98141	"" []	580514	\N	\N	EFO	2	EFO	Autosomal anomaly	Total autosomal monosomy
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98141	"" []	1164420	\N	\N	EFO	3	EFO	Chromosomal anomaly	Total autosomal monosomy
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98141	"" []	2048270	\N	\N	EFO	4	EFO	genetic disorder	Total autosomal monosomy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98141	"" []	3198309	\N	\N	EFO	5	EFO	disease	Total autosomal monosomy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98141	"" []	4403642	\N	\N	EFO	6	EFO	disposition	Total autosomal monosomy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98141	"" []	5419386	\N	\N	EFO	7	EFO	material property	Total autosomal monosomy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98141	"" []	6153612	\N	\N	EFO	8	EFO	experimental factor	Total autosomal monosomy
Orphanet:98142	\N	\N	"" []	Orphanet:98142	"" []	78846	\N	\N	EFO	0	EFO	Partial autosomal monosomy	Partial autosomal monosomy
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:98142	"" []	223814	\N	\N	EFO	1	EFO	Autosomal monosomy	Partial autosomal monosomy
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:98142	"" []	580515	\N	\N	EFO	2	EFO	Autosomal anomaly	Partial autosomal monosomy
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98142	"" []	1164421	\N	\N	EFO	3	EFO	Chromosomal anomaly	Partial autosomal monosomy
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98142	"" []	2048271	\N	\N	EFO	4	EFO	genetic disorder	Partial autosomal monosomy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98142	"" []	3198310	\N	\N	EFO	5	EFO	disease	Partial autosomal monosomy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98142	"" []	4403643	\N	\N	EFO	6	EFO	disposition	Partial autosomal monosomy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98142	"" []	5419387	\N	\N	EFO	7	EFO	material property	Partial autosomal monosomy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98142	"" []	6153613	\N	\N	EFO	8	EFO	experimental factor	Partial autosomal monosomy
Orphanet:98152	\N	\N	"" []	Orphanet:98152	"" []	78847	\N	\N	EFO	0	EFO	Autosomal uniparental disomy	Autosomal uniparental disomy
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:98152	"" []	223815	\N	\N	EFO	1	EFO	Autosomal anomaly	Autosomal uniparental disomy
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98152	"" []	580516	\N	\N	EFO	2	EFO	Chromosomal anomaly	Autosomal uniparental disomy
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98152	"" []	1164422	\N	\N	EFO	3	EFO	genetic disorder	Autosomal uniparental disomy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98152	"" []	2048272	\N	\N	EFO	4	EFO	disease	Autosomal uniparental disomy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98152	"" []	3198311	\N	\N	EFO	5	EFO	disposition	Autosomal uniparental disomy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98152	"" []	4403644	\N	\N	EFO	6	EFO	material property	Autosomal uniparental disomy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98152	"" []	5419388	\N	\N	EFO	7	EFO	experimental factor	Autosomal uniparental disomy
Orphanet:98153	\N	\N	"" []	Orphanet:98153	"" []	78848	\N	\N	EFO	0	EFO	Uniparental disomy of maternal origin	Uniparental disomy of maternal origin
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:98153	"" []	223816	\N	\N	EFO	1	EFO	Autosomal uniparental disomy	Uniparental disomy of maternal origin
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:98153	"" []	580517	\N	\N	EFO	2	EFO	Autosomal anomaly	Uniparental disomy of maternal origin
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98153	"" []	1164423	\N	\N	EFO	3	EFO	Chromosomal anomaly	Uniparental disomy of maternal origin
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98153	"" []	2048273	\N	\N	EFO	4	EFO	genetic disorder	Uniparental disomy of maternal origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98153	"" []	3198312	\N	\N	EFO	5	EFO	disease	Uniparental disomy of maternal origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98153	"" []	4403645	\N	\N	EFO	6	EFO	disposition	Uniparental disomy of maternal origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98153	"" []	5419389	\N	\N	EFO	7	EFO	material property	Uniparental disomy of maternal origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98153	"" []	6153614	\N	\N	EFO	8	EFO	experimental factor	Uniparental disomy of maternal origin
Orphanet:98154	\N	\N	"" []	Orphanet:98154	"" []	78849	\N	\N	EFO	0	EFO	Uniparental disomy of paternal origin	Uniparental disomy of paternal origin
Orphanet:98152	Orphanet:98154	\N	"" []	Orphanet:98154	"" []	223817	\N	\N	EFO	1	EFO	Autosomal uniparental disomy	Uniparental disomy of paternal origin
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:98154	"" []	580518	\N	\N	EFO	2	EFO	Autosomal anomaly	Uniparental disomy of paternal origin
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98154	"" []	1164424	\N	\N	EFO	3	EFO	Chromosomal anomaly	Uniparental disomy of paternal origin
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98154	"" []	2048274	\N	\N	EFO	4	EFO	genetic disorder	Uniparental disomy of paternal origin
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98154	"" []	3198313	\N	\N	EFO	5	EFO	disease	Uniparental disomy of paternal origin
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98154	"" []	4403646	\N	\N	EFO	6	EFO	disposition	Uniparental disomy of paternal origin
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98154	"" []	5419390	\N	\N	EFO	7	EFO	material property	Uniparental disomy of paternal origin
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98154	"" []	6153615	\N	\N	EFO	8	EFO	experimental factor	Uniparental disomy of paternal origin
Orphanet:98155	\N	\N	"" []	Orphanet:98155	"" []	78850	\N	\N	EFO	0	EFO	Gonosome anomaly	Gonosome anomaly
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:98155	"" []	223818	\N	\N	EFO	1	EFO	Chromosomal anomaly	Gonosome anomaly
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98155	"" []	580519	\N	\N	EFO	2	EFO	genetic disorder	Gonosome anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98155	"" []	1164425	\N	\N	EFO	3	EFO	disease	Gonosome anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98155	"" []	2048275	\N	\N	EFO	4	EFO	disposition	Gonosome anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98155	"" []	3198314	\N	\N	EFO	5	EFO	material property	Gonosome anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98155	"" []	4403647	\N	\N	EFO	6	EFO	experimental factor	Gonosome anomaly
Orphanet:98156	\N	\N	"" []	Orphanet:98156	"" []	78851	\N	\N	EFO	0	EFO	Gonosome number anomaly	Gonosome number anomaly
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:98156	"" []	223819	\N	\N	EFO	1	EFO	Gonosome anomaly	Gonosome number anomaly
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:98156	"" []	580520	\N	\N	EFO	2	EFO	Chromosomal anomaly	Gonosome number anomaly
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98156	"" []	1164426	\N	\N	EFO	3	EFO	genetic disorder	Gonosome number anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98156	"" []	2048276	\N	\N	EFO	4	EFO	disease	Gonosome number anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98156	"" []	3198315	\N	\N	EFO	5	EFO	disposition	Gonosome number anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98156	"" []	4403648	\N	\N	EFO	6	EFO	material property	Gonosome number anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98156	"" []	5419391	\N	\N	EFO	7	EFO	experimental factor	Gonosome number anomaly
Orphanet:98157	\N	\N	"" []	Orphanet:98157	"" []	78852	\N	\N	EFO	0	EFO	Gonosome structural anomaly	Gonosome structural anomaly
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:98157	"" []	223820	\N	\N	EFO	1	EFO	Gonosome anomaly	Gonosome structural anomaly
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:98157	"" []	580521	\N	\N	EFO	2	EFO	Chromosomal anomaly	Gonosome structural anomaly
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98157	"" []	1164427	\N	\N	EFO	3	EFO	genetic disorder	Gonosome structural anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98157	"" []	2048277	\N	\N	EFO	4	EFO	disease	Gonosome structural anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98157	"" []	3198316	\N	\N	EFO	5	EFO	disposition	Gonosome structural anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98157	"" []	4403649	\N	\N	EFO	6	EFO	material property	Gonosome structural anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98157	"" []	5419392	\N	\N	EFO	7	EFO	experimental factor	Gonosome structural anomaly
Orphanet:98158	\N	\N	"" []	Orphanet:98158	"" []	78853	\N	\N	EFO	0	EFO	Chromosome Y structural anomaly	Chromosome Y structural anomaly
Orphanet:98157	Orphanet:98158	\N	"" []	Orphanet:98158	"" []	223821	\N	\N	EFO	1	EFO	Gonosome structural anomaly	Chromosome Y structural anomaly
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:98158	"" []	580522	\N	\N	EFO	2	EFO	Gonosome anomaly	Chromosome Y structural anomaly
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:98158	"" []	1164428	\N	\N	EFO	3	EFO	Chromosomal anomaly	Chromosome Y structural anomaly
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98158	"" []	2048278	\N	\N	EFO	4	EFO	genetic disorder	Chromosome Y structural anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98158	"" []	3198317	\N	\N	EFO	5	EFO	disease	Chromosome Y structural anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98158	"" []	4403650	\N	\N	EFO	6	EFO	disposition	Chromosome Y structural anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98158	"" []	5419393	\N	\N	EFO	7	EFO	material property	Chromosome Y structural anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98158	"" []	6153616	\N	\N	EFO	8	EFO	experimental factor	Chromosome Y structural anomaly
Orphanet:98159	\N	\N	"" []	Orphanet:98159	"" []	78854	\N	\N	EFO	0	EFO	Chromosome X structural anomaly	Chromosome X structural anomaly
Orphanet:98157	Orphanet:98159	\N	"" []	Orphanet:98159	"" []	223822	\N	\N	EFO	1	EFO	Gonosome structural anomaly	Chromosome X structural anomaly
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:98159	"" []	580523	\N	\N	EFO	2	EFO	Gonosome anomaly	Chromosome X structural anomaly
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:98159	"" []	1164429	\N	\N	EFO	3	EFO	Chromosomal anomaly	Chromosome X structural anomaly
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98159	"" []	2048279	\N	\N	EFO	4	EFO	genetic disorder	Chromosome X structural anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98159	"" []	3198318	\N	\N	EFO	5	EFO	disease	Chromosome X structural anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98159	"" []	4403651	\N	\N	EFO	6	EFO	disposition	Chromosome X structural anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98159	"" []	5419394	\N	\N	EFO	7	EFO	material property	Chromosome X structural anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98159	"" []	6153617	\N	\N	EFO	8	EFO	experimental factor	Chromosome X structural anomaly
Orphanet:98196	\N	\N	"" []	Orphanet:98196	"" []	78855	\N	\N	EFO	0	EFO	Malformation syndrome with hamartosis	Malformation syndrome with hamartosis
Orphanet:183530	Orphanet:98196	\N	"" []	Orphanet:98196	"" []	223823	\N	\N	EFO	1	EFO	Rare genetic developmental defect during embryogenesis	Malformation syndrome with hamartosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98196	"" []	580524	\N	\N	EFO	2	EFO	genetic disorder	Malformation syndrome with hamartosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98196	"" []	1164430	\N	\N	EFO	3	EFO	disease	Malformation syndrome with hamartosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98196	"" []	2048280	\N	\N	EFO	4	EFO	disposition	Malformation syndrome with hamartosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98196	"" []	3198319	\N	\N	EFO	5	EFO	material property	Malformation syndrome with hamartosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98196	"" []	4403652	\N	\N	EFO	6	EFO	experimental factor	Malformation syndrome with hamartosis
Orphanet:98203	\N	\N	"" []	Orphanet:98203	"" []	78856	\N	\N	EFO	0	EFO	Combined dystonia	Combined dystonia
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:98203	"" []	223824	\N	\N	EFO	1	EFO	Rare genetic dystonia	Combined dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:98203	"" []	580525	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Combined dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:98203	"" []	1164431	\N	\N	EFO	3	EFO	movement disorder	Combined dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:98203	"" []	1164432	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Combined dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98203	"" []	2048281	\N	\N	EFO	4	EFO	nervous system disease	Combined dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98203	"" []	2048282	\N	\N	EFO	4	EFO	genetic disorder	Combined dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98203	"" []	3198320	\N	\N	EFO	5	EFO	disease	Combined dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98203	"" []	3198321	\N	\N	EFO	5	EFO	disease	Combined dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98203	"" []	4403653	\N	\N	EFO	6	EFO	disposition	Combined dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98203	"" []	5419395	\N	\N	EFO	7	EFO	material property	Combined dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98203	"" []	6153618	\N	\N	EFO	8	EFO	experimental factor	Combined dystonia
Orphanet:98249	\N	\N	"" []	Orphanet:98249	"" []	78857	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:98249	"" []	223825	\N	\N	EFO	1	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:98249	"" []	223826	\N	\N	EFO	1	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:98249	"" []	223827	\N	\N	EFO	1	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:98249	"" []	223828	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:98249	"" []	580526	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:98249	"" []	580527	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:98249	"" []	580528	\N	\N	EFO	2	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98249	"" []	580529	\N	\N	EFO	2	EFO	genetic disorder	Ehlers-Danlos syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98249	"" []	1164433	\N	\N	EFO	3	EFO	genetic disorder	Ehlers-Danlos syndrome
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:98249	"" []	1164434	\N	\N	EFO	3	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98249	"" []	3198322	\N	\N	EFO	5	EFO	disease	Ehlers-Danlos syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98249	"" []	2048284	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98249	"" []	2048285	\N	\N	EFO	4	EFO	skin disease	Ehlers-Danlos syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98249	"" []	4067025	\N	\N	EFO	6	EFO	disposition	Ehlers-Danlos syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98249	"" []	3198323	\N	\N	EFO	5	EFO	disease	Ehlers-Danlos syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98249	"" []	5060357	\N	\N	EFO	7	EFO	material property	Ehlers-Danlos syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98249	"" []	5877920	\N	\N	EFO	8	EFO	experimental factor	Ehlers-Danlos syndrome
Orphanet:98257	\N	\N	"" []	Orphanet:98257	"" []	78858	\N	\N	EFO	0	EFO	Neonatal epilepsy syndrome	Neonatal epilepsy syndrome
Orphanet:166463	Orphanet:98257	\N	"" []	Orphanet:98257	"" []	223829	\N	\N	EFO	1	EFO	Epilepsy syndrome	Neonatal epilepsy syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:98257	"" []	580530	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Neonatal epilepsy syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:98257	"" []	1164436	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Neonatal epilepsy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98257	"" []	2048287	\N	\N	EFO	4	EFO	genetic disorder	Neonatal epilepsy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98257	"" []	3198325	\N	\N	EFO	5	EFO	disease	Neonatal epilepsy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98257	"" []	4403655	\N	\N	EFO	6	EFO	disposition	Neonatal epilepsy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98257	"" []	5419396	\N	\N	EFO	7	EFO	material property	Neonatal epilepsy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98257	"" []	6153619	\N	\N	EFO	8	EFO	experimental factor	Neonatal epilepsy syndrome
Orphanet:98258	\N	\N	"" []	Orphanet:98258	"" []	78859	\N	\N	EFO	0	EFO	Infantile epilepsy syndrome	Infantile epilepsy syndrome
Orphanet:166463	Orphanet:98258	\N	"" []	Orphanet:98258	"" []	223830	\N	\N	EFO	1	EFO	Epilepsy syndrome	Infantile epilepsy syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:98258	"" []	580531	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Infantile epilepsy syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:98258	"" []	1164437	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Infantile epilepsy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98258	"" []	2048288	\N	\N	EFO	4	EFO	genetic disorder	Infantile epilepsy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98258	"" []	3198326	\N	\N	EFO	5	EFO	disease	Infantile epilepsy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98258	"" []	4403656	\N	\N	EFO	6	EFO	disposition	Infantile epilepsy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98258	"" []	5419397	\N	\N	EFO	7	EFO	material property	Infantile epilepsy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98258	"" []	6153620	\N	\N	EFO	8	EFO	experimental factor	Infantile epilepsy syndrome
Orphanet:98259	\N	\N	"" []	Orphanet:98259	"" []	78860	\N	\N	EFO	0	EFO	Childhood-onset epilepsy syndrome	Childhood-onset epilepsy syndrome
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:98259	"" []	223831	\N	\N	EFO	1	EFO	Epilepsy syndrome	Childhood-onset epilepsy syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:98259	"" []	580532	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Childhood-onset epilepsy syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:98259	"" []	1164438	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Childhood-onset epilepsy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98259	"" []	2048289	\N	\N	EFO	4	EFO	genetic disorder	Childhood-onset epilepsy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98259	"" []	3198327	\N	\N	EFO	5	EFO	disease	Childhood-onset epilepsy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98259	"" []	4403657	\N	\N	EFO	6	EFO	disposition	Childhood-onset epilepsy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98259	"" []	5419398	\N	\N	EFO	7	EFO	material property	Childhood-onset epilepsy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98259	"" []	6153621	\N	\N	EFO	8	EFO	experimental factor	Childhood-onset epilepsy syndrome
Orphanet:98260	\N	\N	"" []	Orphanet:98260	"" []	78861	\N	\N	EFO	0	EFO	Adolescent-onset epilepsy syndrome	Adolescent-onset epilepsy syndrome
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:98260	"" []	223832	\N	\N	EFO	1	EFO	Epilepsy syndrome	Adolescent-onset epilepsy syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:98260	"" []	580533	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Adolescent-onset epilepsy syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:98260	"" []	1164439	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Adolescent-onset epilepsy syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98260	"" []	2048290	\N	\N	EFO	4	EFO	genetic disorder	Adolescent-onset epilepsy syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98260	"" []	3198328	\N	\N	EFO	5	EFO	disease	Adolescent-onset epilepsy syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98260	"" []	4403658	\N	\N	EFO	6	EFO	disposition	Adolescent-onset epilepsy syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98260	"" []	5419399	\N	\N	EFO	7	EFO	material property	Adolescent-onset epilepsy syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98260	"" []	6153622	\N	\N	EFO	8	EFO	experimental factor	Adolescent-onset epilepsy syndrome
Orphanet:98261	\N	\N	"" []	Orphanet:98261	"" []	78862	\N	\N	EFO	0	EFO	Progressive myoclonic epilepsy	Progressive myoclonic epilepsy
Orphanet:98259	Orphanet:98261	\N	"" []	Orphanet:98261	"" []	223833	\N	\N	EFO	1	EFO	Childhood-onset epilepsy syndrome	Progressive myoclonic epilepsy
Orphanet:98260	Orphanet:98261	\N	"" []	Orphanet:98261	"" []	223834	\N	\N	EFO	1	EFO	Adolescent-onset epilepsy syndrome	Progressive myoclonic epilepsy
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:98261	"" []	580534	\N	\N	EFO	2	EFO	Epilepsy syndrome	Progressive myoclonic epilepsy
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:98261	"" []	580535	\N	\N	EFO	2	EFO	Epilepsy syndrome	Progressive myoclonic epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:98261	"" []	1164440	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Progressive myoclonic epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:98261	"" []	2048291	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Progressive myoclonic epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98261	"" []	3198329	\N	\N	EFO	5	EFO	genetic disorder	Progressive myoclonic epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98261	"" []	4403659	\N	\N	EFO	6	EFO	disease	Progressive myoclonic epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98261	"" []	5419400	\N	\N	EFO	7	EFO	disposition	Progressive myoclonic epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98261	"" []	6153623	\N	\N	EFO	8	EFO	material property	Progressive myoclonic epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98261	"" []	6634515	\N	\N	EFO	9	EFO	experimental factor	Progressive myoclonic epilepsy
Orphanet:98267	\N	\N	"" []	Orphanet:98267	"" []	78863	\N	\N	EFO	0	EFO	Genetic non-syndromic obesity	Genetic non-syndromic obesity
Orphanet:77828	Orphanet:98267	\N	"" []	Orphanet:98267	"" []	223835	\N	\N	EFO	1	EFO	Genetic obesity	Genetic non-syndromic obesity
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:98267	"" []	580536	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Genetic non-syndromic obesity
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:98267	"" []	580537	\N	\N	EFO	2	EFO	Genetic overgrowth/obesity syndrome	Genetic non-syndromic obesity
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98267	"" []	1164441	\N	\N	EFO	3	EFO	genetic disorder	Genetic non-syndromic obesity
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:98267	"" []	1164442	\N	\N	EFO	3	EFO	endocrine system disease	Genetic non-syndromic obesity
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:98267	"" []	1164443	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Genetic non-syndromic obesity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98267	"" []	3198331	\N	\N	EFO	5	EFO	disease	Genetic non-syndromic obesity
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98267	"" []	2048293	\N	\N	EFO	4	EFO	disease	Genetic non-syndromic obesity
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98267	"" []	2048294	\N	\N	EFO	4	EFO	genetic disorder	Genetic non-syndromic obesity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98267	"" []	4134558	\N	\N	EFO	6	EFO	disposition	Genetic non-syndromic obesity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98267	"" []	5183735	\N	\N	EFO	7	EFO	material property	Genetic non-syndromic obesity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98267	"" []	5999057	\N	\N	EFO	8	EFO	experimental factor	Genetic non-syndromic obesity
Orphanet:983	\N	\N	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	78864	\N	\N	EFO	0	EFO	Testicular regression syndrome	Testicular regression syndrome
Orphanet:325118	Orphanet:983	\N	"" []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	223836	\N	\N	EFO	1	EFO	46,XY disorder of gonadal development	Testicular regression syndrome
Orphanet:98313	Orphanet:983	\N	"" []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	223837	\N	\N	EFO	1	EFO	Male infertility due to gonadal dysgenesis	Testicular regression syndrome
Orphanet:325706	Orphanet:325118	\N	"" []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	580538	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	Testicular regression syndrome
Orphanet:399764	Orphanet:98313	\N	"" []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	580539	\N	\N	EFO	2	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Testicular regression syndrome
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	1164444	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Testicular regression syndrome
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	1164445	\N	\N	EFO	3	EFO	Rare genetic male infertility	Testicular regression syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	2048295	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Testicular regression syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	2048296	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Testicular regression syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	2048297	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Testicular regression syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	2048298	\N	\N	EFO	4	EFO	Genetic infertility	Testicular regression syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	3198332	\N	\N	EFO	5	EFO	genetic disorder	Testicular regression syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	3198333	\N	\N	EFO	5	EFO	genetic disorder	Testicular regression syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	3198334	\N	\N	EFO	5	EFO	endocrine system disease	Testicular regression syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	3198335	\N	\N	EFO	5	EFO	genetic disorder	Testicular regression syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	3198336	\N	\N	EFO	5	EFO	genetic disorder	Testicular regression syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	3198337	\N	\N	EFO	5	EFO	reproductive system disease	Testicular regression syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	4403661	\N	\N	EFO	6	EFO	disease	Testicular regression syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	4403662	\N	\N	EFO	6	EFO	disease	Testicular regression syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	4403663	\N	\N	EFO	6	EFO	disease	Testicular regression syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	5419402	\N	\N	EFO	7	EFO	disposition	Testicular regression syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	6153624	\N	\N	EFO	8	EFO	material property	Testicular regression syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:983	"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." []	6634516	\N	\N	EFO	9	EFO	experimental factor	Testicular regression syndrome
Orphanet:98305	\N	\N	"" []	Orphanet:98305	"" []	78865	\N	\N	EFO	0	EFO	Genetic lipodystrophy	Genetic lipodystrophy
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:98305	"" []	223838	\N	\N	EFO	1	EFO	Rare genetic endocrine disease	Genetic lipodystrophy
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:98305	"" []	223839	\N	\N	EFO	1	EFO	Primary lipodystrophy	Genetic lipodystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98305	"" []	580540	\N	\N	EFO	2	EFO	genetic disorder	Genetic lipodystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:98305	"" []	580541	\N	\N	EFO	2	EFO	endocrine system disease	Genetic lipodystrophy
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:98305	"" []	580542	\N	\N	EFO	2	EFO	Genetic subcutaneous tissue disorder	Genetic lipodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98305	"" []	3198339	\N	\N	EFO	5	EFO	disease	Genetic lipodystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98305	"" []	1164447	\N	\N	EFO	3	EFO	disease	Genetic lipodystrophy
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:98305	"" []	1164448	\N	\N	EFO	3	EFO	Rare genetic skin disease	Genetic lipodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98305	"" []	4067026	\N	\N	EFO	6	EFO	disposition	Genetic lipodystrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98305	"" []	2048300	\N	\N	EFO	4	EFO	genetic disorder	Genetic lipodystrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98305	"" []	2048301	\N	\N	EFO	4	EFO	skin disease	Genetic lipodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98305	"" []	5060358	\N	\N	EFO	7	EFO	material property	Genetic lipodystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98305	"" []	3198340	\N	\N	EFO	5	EFO	disease	Genetic lipodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98305	"" []	5877921	\N	\N	EFO	8	EFO	experimental factor	Genetic lipodystrophy
Orphanet:98306	\N	\N	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	78866	\N	\N	EFO	0	EFO	Familial partial lipodystrophy	Familial partial lipodystrophy
EFO:1000727	Orphanet:98306	\N	"a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. (\\"Lipo\\" is Greek for \\"fat\\", and \\"dystrophy\\" is Greek for \\"abnormal or degenerative condition\\".)" []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	223840	\N	\N	EFO	1	EFO	lipodystrophy	Familial partial lipodystrophy
Orphanet:98305	Orphanet:98306	\N	"" []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	223841	\N	\N	EFO	1	EFO	Genetic lipodystrophy	Familial partial lipodystrophy
EFO:0000701	EFO:1000727	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	580543	\N	\N	EFO	2	EFO	skin disease	Familial partial lipodystrophy
Orphanet:156638	Orphanet:98305	\N	"" []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	580544	\N	\N	EFO	2	EFO	Rare genetic endocrine disease	Familial partial lipodystrophy
Orphanet:90970	Orphanet:98305	\N	"" []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	580545	\N	\N	EFO	2	EFO	Primary lipodystrophy	Familial partial lipodystrophy
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	4403667	\N	\N	EFO	6	EFO	disease	Familial partial lipodystrophy
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	1164450	\N	\N	EFO	3	EFO	genetic disorder	Familial partial lipodystrophy
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	1164451	\N	\N	EFO	3	EFO	endocrine system disease	Familial partial lipodystrophy
Orphanet:183484	Orphanet:90970	\N	"" []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	1164452	\N	\N	EFO	3	EFO	Genetic subcutaneous tissue disorder	Familial partial lipodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	5028496	\N	\N	EFO	7	EFO	disposition	Familial partial lipodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	4403666	\N	\N	EFO	6	EFO	disease	Familial partial lipodystrophy
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	2048304	\N	\N	EFO	4	EFO	disease	Familial partial lipodystrophy
Orphanet:68346	Orphanet:183484	\N	"" []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	2048305	\N	\N	EFO	4	EFO	Rare genetic skin disease	Familial partial lipodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	5817935	\N	\N	EFO	8	EFO	material property	Familial partial lipodystrophy
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	3198343	\N	\N	EFO	5	EFO	genetic disorder	Familial partial lipodystrophy
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	3198344	\N	\N	EFO	5	EFO	skin disease	Familial partial lipodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98306	"A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." []	6410454	\N	\N	EFO	9	EFO	experimental factor	Familial partial lipodystrophy
Orphanet:98313	\N	\N	"" []	Orphanet:98313	"" []	78867	\N	\N	EFO	0	EFO	Male infertility due to gonadal dysgenesis	Male infertility due to gonadal dysgenesis
Orphanet:399764	Orphanet:98313	\N	"" []	Orphanet:98313	"" []	223842	\N	\N	EFO	1	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	Male infertility due to gonadal dysgenesis
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:98313	"" []	580546	\N	\N	EFO	2	EFO	Rare genetic male infertility	Male infertility due to gonadal dysgenesis
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:98313	"" []	1164453	\N	\N	EFO	3	EFO	Genetic infertility	Male infertility due to gonadal dysgenesis
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98313	"" []	2048306	\N	\N	EFO	4	EFO	genetic disorder	Male infertility due to gonadal dysgenesis
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:98313	"" []	2048307	\N	\N	EFO	4	EFO	reproductive system disease	Male infertility due to gonadal dysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98313	"" []	3198345	\N	\N	EFO	5	EFO	disease	Male infertility due to gonadal dysgenesis
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98313	"" []	3198346	\N	\N	EFO	5	EFO	disease	Male infertility due to gonadal dysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98313	"" []	4403668	\N	\N	EFO	6	EFO	disposition	Male infertility due to gonadal dysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98313	"" []	5419403	\N	\N	EFO	7	EFO	material property	Male infertility due to gonadal dysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98313	"" []	6153625	\N	\N	EFO	8	EFO	experimental factor	Male infertility due to gonadal dysgenesis
Orphanet:98349	\N	\N	"" []	Orphanet:98349	"" []	78868	\N	\N	EFO	0	EFO	Autosomal dominant isolated diffuse palmoplantar keratoderma	Autosomal dominant isolated diffuse palmoplantar keratoderma
Orphanet:307148	Orphanet:98349	\N	"" []	Orphanet:98349	"" []	223843	\N	\N	EFO	1	EFO	Isolated diffuse palmoplantar keratoderma	Autosomal dominant isolated diffuse palmoplantar keratoderma
Orphanet:307141	Orphanet:307148	\N	"" []	Orphanet:98349	"" []	580547	\N	\N	EFO	2	EFO	Diffuse palmoplantar keratoderma	Autosomal dominant isolated diffuse palmoplantar keratoderma
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:98349	"" []	1164454	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Autosomal dominant isolated diffuse palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:98349	"" []	2048308	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal dominant isolated diffuse palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:98349	"" []	3198347	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal dominant isolated diffuse palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98349	"" []	4403669	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant isolated diffuse palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98349	"" []	4403670	\N	\N	EFO	6	EFO	skin disease	Autosomal dominant isolated diffuse palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98349	"" []	5419404	\N	\N	EFO	7	EFO	disease	Autosomal dominant isolated diffuse palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98349	"" []	5419405	\N	\N	EFO	7	EFO	disease	Autosomal dominant isolated diffuse palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98349	"" []	6153626	\N	\N	EFO	8	EFO	disposition	Autosomal dominant isolated diffuse palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98349	"" []	6634517	\N	\N	EFO	9	EFO	material property	Autosomal dominant isolated diffuse palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98349	"" []	6926381	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant isolated diffuse palmoplantar keratoderma
Orphanet:98352	\N	\N	"" []	Orphanet:98352	"" []	78869	\N	\N	EFO	0	EFO	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:307711	Orphanet:98352	\N	"" []	Orphanet:98352	"" []	223844	\N	\N	EFO	1	EFO	Disease with diffuse palmoplantar keratoderma as a major feature	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:307141	Orphanet:307711	\N	"" []	Orphanet:98352	"" []	580548	\N	\N	EFO	2	EFO	Diffuse palmoplantar keratoderma	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:98352	"" []	1164455	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:98352	"" []	2048309	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:98352	"" []	3198348	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98352	"" []	4403671	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98352	"" []	4403672	\N	\N	EFO	6	EFO	skin disease	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98352	"" []	5419406	\N	\N	EFO	7	EFO	disease	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98352	"" []	5419407	\N	\N	EFO	7	EFO	disease	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98352	"" []	6153627	\N	\N	EFO	8	EFO	disposition	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98352	"" []	6634518	\N	\N	EFO	9	EFO	material property	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98352	"" []	6926382	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Orphanet:98353	\N	\N	"" []	Orphanet:98353	"" []	78870	\N	\N	EFO	0	EFO	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Orphanet:307871	Orphanet:98353	\N	"" []	Orphanet:98353	"" []	223845	\N	\N	EFO	1	EFO	Disease with focal palmoplantar keratoderma as a major feature	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Orphanet:307837	Orphanet:307871	\N	"" []	Orphanet:98353	"" []	580549	\N	\N	EFO	2	EFO	Focal palmoplantar keratoderma	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:98353	"" []	1164456	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:98353	"" []	2048310	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:98353	"" []	3198349	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98353	"" []	4403673	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98353	"" []	4403674	\N	\N	EFO	6	EFO	skin disease	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98353	"" []	5419408	\N	\N	EFO	7	EFO	disease	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98353	"" []	5419409	\N	\N	EFO	7	EFO	disease	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98353	"" []	6153628	\N	\N	EFO	8	EFO	disposition	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98353	"" []	6634519	\N	\N	EFO	9	EFO	material property	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98353	"" []	6926383	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Orphanet:98356	\N	\N	"" []	Orphanet:98356	"" []	78871	\N	\N	EFO	0	EFO	Autosomal recessive isolated diffuse palmoplantar keratoderma	Autosomal recessive isolated diffuse palmoplantar keratoderma
Orphanet:307148	Orphanet:98356	\N	"" []	Orphanet:98356	"" []	223846	\N	\N	EFO	1	EFO	Isolated diffuse palmoplantar keratoderma	Autosomal recessive isolated diffuse palmoplantar keratoderma
Orphanet:307141	Orphanet:307148	\N	"" []	Orphanet:98356	"" []	580550	\N	\N	EFO	2	EFO	Diffuse palmoplantar keratoderma	Autosomal recessive isolated diffuse palmoplantar keratoderma
Orphanet:79357	Orphanet:307141	\N	"" []	Orphanet:98356	"" []	1164457	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Autosomal recessive isolated diffuse palmoplantar keratoderma
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:98356	"" []	2048311	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal recessive isolated diffuse palmoplantar keratoderma
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:98356	"" []	3198350	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal recessive isolated diffuse palmoplantar keratoderma
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98356	"" []	4403675	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive isolated diffuse palmoplantar keratoderma
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98356	"" []	4403676	\N	\N	EFO	6	EFO	skin disease	Autosomal recessive isolated diffuse palmoplantar keratoderma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98356	"" []	5419410	\N	\N	EFO	7	EFO	disease	Autosomal recessive isolated diffuse palmoplantar keratoderma
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98356	"" []	5419411	\N	\N	EFO	7	EFO	disease	Autosomal recessive isolated diffuse palmoplantar keratoderma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98356	"" []	6153629	\N	\N	EFO	8	EFO	disposition	Autosomal recessive isolated diffuse palmoplantar keratoderma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98356	"" []	6634520	\N	\N	EFO	9	EFO	material property	Autosomal recessive isolated diffuse palmoplantar keratoderma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98356	"" []	6926384	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive isolated diffuse palmoplantar keratoderma
Orphanet:98357	\N	\N	"" []	Orphanet:98357	"" []	78872	\N	\N	EFO	0	EFO	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Orphanet:307871	Orphanet:98357	\N	"" []	Orphanet:98357	"" []	223847	\N	\N	EFO	1	EFO	Disease with focal palmoplantar keratoderma as a major feature	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Orphanet:307837	Orphanet:307871	\N	"" []	Orphanet:98357	"" []	580551	\N	\N	EFO	2	EFO	Focal palmoplantar keratoderma	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Orphanet:79357	Orphanet:307837	\N	"" []	Orphanet:98357	"" []	1164458	\N	\N	EFO	3	EFO	Hereditary palmoplantar keratoderma	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Orphanet:183426	Orphanet:79357	\N	"" []	Orphanet:98357	"" []	2048312	\N	\N	EFO	4	EFO	Genetic epidermal disorder	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:98357	"" []	3198351	\N	\N	EFO	5	EFO	Rare genetic skin disease	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98357	"" []	4403677	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98357	"" []	4403678	\N	\N	EFO	6	EFO	skin disease	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98357	"" []	5419412	\N	\N	EFO	7	EFO	disease	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98357	"" []	5419413	\N	\N	EFO	7	EFO	disease	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98357	"" []	6153630	\N	\N	EFO	8	EFO	disposition	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98357	"" []	6634521	\N	\N	EFO	9	EFO	material property	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98357	"" []	6926385	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Orphanet:98360	\N	\N	"" []	Orphanet:98360	"" []	78873	\N	\N	EFO	0	EFO	Constitutional anemia due to iron metabolism disorder	Constitutional anemia due to iron metabolism disorder
Orphanet:248296	Orphanet:98360	\N	"" []	Orphanet:98360	"" []	223848	\N	\N	EFO	1	EFO	Constitutional deficiency anemia	Constitutional anemia due to iron metabolism disorder
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:98360	"" []	580552	\N	\N	EFO	2	EFO	Rare constitutional anemia	Constitutional anemia due to iron metabolism disorder
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98360	"" []	1164459	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Constitutional anemia due to iron metabolism disorder
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98360	"" []	2048313	\N	\N	EFO	4	EFO	genetic disorder	Constitutional anemia due to iron metabolism disorder
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98360	"" []	2048314	\N	\N	EFO	4	EFO	hematological system disease	Constitutional anemia due to iron metabolism disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98360	"" []	3198352	\N	\N	EFO	5	EFO	disease	Constitutional anemia due to iron metabolism disorder
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98360	"" []	3198353	\N	\N	EFO	5	EFO	disease	Constitutional anemia due to iron metabolism disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98360	"" []	4403679	\N	\N	EFO	6	EFO	disposition	Constitutional anemia due to iron metabolism disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98360	"" []	5419414	\N	\N	EFO	7	EFO	material property	Constitutional anemia due to iron metabolism disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98360	"" []	6153631	\N	\N	EFO	8	EFO	experimental factor	Constitutional anemia due to iron metabolism disorder
Orphanet:98362	\N	\N	"" []	Orphanet:98362	"" []	78874	\N	\N	EFO	0	EFO	Constitutional sideroblastic anemia	Constitutional sideroblastic anemia
Orphanet:183651	Orphanet:98362	\N	"" []	Orphanet:98362	"" []	223849	\N	\N	EFO	1	EFO	Rare constitutional anemia	Constitutional sideroblastic anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98362	"" []	580553	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Constitutional sideroblastic anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98362	"" []	1164460	\N	\N	EFO	3	EFO	genetic disorder	Constitutional sideroblastic anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98362	"" []	1164461	\N	\N	EFO	3	EFO	hematological system disease	Constitutional sideroblastic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98362	"" []	2048315	\N	\N	EFO	4	EFO	disease	Constitutional sideroblastic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98362	"" []	2048316	\N	\N	EFO	4	EFO	disease	Constitutional sideroblastic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98362	"" []	3198354	\N	\N	EFO	5	EFO	disposition	Constitutional sideroblastic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98362	"" []	4403680	\N	\N	EFO	6	EFO	material property	Constitutional sideroblastic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98362	"" []	5419415	\N	\N	EFO	7	EFO	experimental factor	Constitutional sideroblastic anemia
Orphanet:98364	\N	\N	"" []	Orphanet:98364	"" []	78875	\N	\N	EFO	0	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Rare constitutional hemolytic anemia due to a red cell membrane anomaly
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:98364	"" []	223850	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia	Rare constitutional hemolytic anemia due to a red cell membrane anomaly
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:98364	"" []	580554	\N	\N	EFO	2	EFO	Rare constitutional anemia	Rare constitutional hemolytic anemia due to a red cell membrane anomaly
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98364	"" []	1164462	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Rare constitutional hemolytic anemia due to a red cell membrane anomaly
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98364	"" []	2048317	\N	\N	EFO	4	EFO	genetic disorder	Rare constitutional hemolytic anemia due to a red cell membrane anomaly
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98364	"" []	2048318	\N	\N	EFO	4	EFO	hematological system disease	Rare constitutional hemolytic anemia due to a red cell membrane anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98364	"" []	3198355	\N	\N	EFO	5	EFO	disease	Rare constitutional hemolytic anemia due to a red cell membrane anomaly
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98364	"" []	3198356	\N	\N	EFO	5	EFO	disease	Rare constitutional hemolytic anemia due to a red cell membrane anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98364	"" []	4403681	\N	\N	EFO	6	EFO	disposition	Rare constitutional hemolytic anemia due to a red cell membrane anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98364	"" []	5419416	\N	\N	EFO	7	EFO	material property	Rare constitutional hemolytic anemia due to a red cell membrane anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98364	"" []	6153632	\N	\N	EFO	8	EFO	experimental factor	Rare constitutional hemolytic anemia due to a red cell membrane anomaly
Orphanet:98365	\N	\N	"" []	Orphanet:98365	"" []	78876	\N	\N	EFO	0	EFO	Hereditary stomatocytosis	Hereditary stomatocytosis
Orphanet:98364	Orphanet:98365	\N	"" []	Orphanet:98365	"" []	223851	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Hereditary stomatocytosis
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:98365	"" []	580555	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Hereditary stomatocytosis
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:98365	"" []	1164463	\N	\N	EFO	3	EFO	Rare constitutional anemia	Hereditary stomatocytosis
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98365	"" []	2048319	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hereditary stomatocytosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98365	"" []	3198357	\N	\N	EFO	5	EFO	genetic disorder	Hereditary stomatocytosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98365	"" []	3198358	\N	\N	EFO	5	EFO	hematological system disease	Hereditary stomatocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98365	"" []	4403682	\N	\N	EFO	6	EFO	disease	Hereditary stomatocytosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98365	"" []	4403683	\N	\N	EFO	6	EFO	disease	Hereditary stomatocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98365	"" []	5419417	\N	\N	EFO	7	EFO	disposition	Hereditary stomatocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98365	"" []	6153633	\N	\N	EFO	8	EFO	material property	Hereditary stomatocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98365	"" []	6634522	\N	\N	EFO	9	EFO	experimental factor	Hereditary stomatocytosis
Orphanet:98366	\N	\N	"" []	Orphanet:98366	"" []	78877	\N	\N	EFO	0	EFO	Constitutional hemolytic anemia due to acanthocytosis	Constitutional hemolytic anemia due to acanthocytosis
Orphanet:98364	Orphanet:98366	\N	"" []	Orphanet:98366	"" []	223852	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Constitutional hemolytic anemia due to acanthocytosis
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:98366	"" []	580556	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Constitutional hemolytic anemia due to acanthocytosis
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:98366	"" []	1164464	\N	\N	EFO	3	EFO	Rare constitutional anemia	Constitutional hemolytic anemia due to acanthocytosis
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98366	"" []	2048320	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Constitutional hemolytic anemia due to acanthocytosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98366	"" []	3198359	\N	\N	EFO	5	EFO	genetic disorder	Constitutional hemolytic anemia due to acanthocytosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98366	"" []	3198360	\N	\N	EFO	5	EFO	hematological system disease	Constitutional hemolytic anemia due to acanthocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98366	"" []	4403684	\N	\N	EFO	6	EFO	disease	Constitutional hemolytic anemia due to acanthocytosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98366	"" []	4403685	\N	\N	EFO	6	EFO	disease	Constitutional hemolytic anemia due to acanthocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98366	"" []	5419418	\N	\N	EFO	7	EFO	disposition	Constitutional hemolytic anemia due to acanthocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98366	"" []	6153634	\N	\N	EFO	8	EFO	material property	Constitutional hemolytic anemia due to acanthocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98366	"" []	6634523	\N	\N	EFO	9	EFO	experimental factor	Constitutional hemolytic anemia due to acanthocytosis
Orphanet:98369	\N	\N	"" []	Orphanet:98369	"" []	78878	\N	\N	EFO	0	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Rare constitutional hemolytic anemia due to an enzyme disorder
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:98369	"" []	223853	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia	Rare constitutional hemolytic anemia due to an enzyme disorder
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:98369	"" []	580557	\N	\N	EFO	2	EFO	Rare constitutional anemia	Rare constitutional hemolytic anemia due to an enzyme disorder
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98369	"" []	1164465	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Rare constitutional hemolytic anemia due to an enzyme disorder
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98369	"" []	2048321	\N	\N	EFO	4	EFO	genetic disorder	Rare constitutional hemolytic anemia due to an enzyme disorder
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98369	"" []	2048322	\N	\N	EFO	4	EFO	hematological system disease	Rare constitutional hemolytic anemia due to an enzyme disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98369	"" []	3198361	\N	\N	EFO	5	EFO	disease	Rare constitutional hemolytic anemia due to an enzyme disorder
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98369	"" []	3198362	\N	\N	EFO	5	EFO	disease	Rare constitutional hemolytic anemia due to an enzyme disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98369	"" []	4403686	\N	\N	EFO	6	EFO	disposition	Rare constitutional hemolytic anemia due to an enzyme disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98369	"" []	5419419	\N	\N	EFO	7	EFO	material property	Rare constitutional hemolytic anemia due to an enzyme disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98369	"" []	6153635	\N	\N	EFO	8	EFO	experimental factor	Rare constitutional hemolytic anemia due to an enzyme disorder
Orphanet:98370	\N	\N	"" []	Orphanet:98370	"" []	78879	\N	\N	EFO	0	EFO	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Orphanet:98369	Orphanet:98370	\N	"" []	Orphanet:98370	"" []	223854	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:98370	"" []	580558	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:98370	"" []	1164466	\N	\N	EFO	3	EFO	Rare constitutional anemia	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98370	"" []	2048323	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98370	"" []	3198363	\N	\N	EFO	5	EFO	genetic disorder	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98370	"" []	3198364	\N	\N	EFO	5	EFO	hematological system disease	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98370	"" []	4403687	\N	\N	EFO	6	EFO	disease	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98370	"" []	4403688	\N	\N	EFO	6	EFO	disease	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98370	"" []	5419420	\N	\N	EFO	7	EFO	disposition	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98370	"" []	6153636	\N	\N	EFO	8	EFO	material property	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98370	"" []	6634524	\N	\N	EFO	9	EFO	experimental factor	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Orphanet:98372	\N	\N	"" []	Orphanet:98372	"" []	78880	\N	\N	EFO	0	EFO	Hemolytic anemia due to a disorder of glycolytic enzymes	Hemolytic anemia due to a disorder of glycolytic enzymes
Orphanet:98369	Orphanet:98372	\N	"" []	Orphanet:98372	"" []	223855	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Hemolytic anemia due to a disorder of glycolytic enzymes
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:98372	"" []	580559	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Hemolytic anemia due to a disorder of glycolytic enzymes
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:98372	"" []	1164467	\N	\N	EFO	3	EFO	Rare constitutional anemia	Hemolytic anemia due to a disorder of glycolytic enzymes
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98372	"" []	2048324	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hemolytic anemia due to a disorder of glycolytic enzymes
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98372	"" []	3198365	\N	\N	EFO	5	EFO	genetic disorder	Hemolytic anemia due to a disorder of glycolytic enzymes
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98372	"" []	3198366	\N	\N	EFO	5	EFO	hematological system disease	Hemolytic anemia due to a disorder of glycolytic enzymes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98372	"" []	4403689	\N	\N	EFO	6	EFO	disease	Hemolytic anemia due to a disorder of glycolytic enzymes
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98372	"" []	4403690	\N	\N	EFO	6	EFO	disease	Hemolytic anemia due to a disorder of glycolytic enzymes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98372	"" []	5419421	\N	\N	EFO	7	EFO	disposition	Hemolytic anemia due to a disorder of glycolytic enzymes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98372	"" []	6153637	\N	\N	EFO	8	EFO	material property	Hemolytic anemia due to a disorder of glycolytic enzymes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98372	"" []	6634525	\N	\N	EFO	9	EFO	experimental factor	Hemolytic anemia due to a disorder of glycolytic enzymes
Orphanet:98374	\N	\N	"" []	Orphanet:98374	"" []	78881	\N	\N	EFO	0	EFO	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
Orphanet:98369	Orphanet:98374	\N	"" []	Orphanet:98374	"" []	223856	\N	\N	EFO	1	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:98374	"" []	580560	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:98374	"" []	1164468	\N	\N	EFO	3	EFO	Rare constitutional anemia	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98374	"" []	2048325	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98374	"" []	3198367	\N	\N	EFO	5	EFO	genetic disorder	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98374	"" []	3198368	\N	\N	EFO	5	EFO	hematological system disease	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98374	"" []	4403691	\N	\N	EFO	6	EFO	disease	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98374	"" []	4403692	\N	\N	EFO	6	EFO	disease	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98374	"" []	5419422	\N	\N	EFO	7	EFO	disposition	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98374	"" []	6153638	\N	\N	EFO	8	EFO	material property	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98374	"" []	6634526	\N	\N	EFO	9	EFO	experimental factor	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
Orphanet:98396	\N	\N	"" []	Orphanet:98396	"" []	78882	\N	\N	EFO	0	EFO	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
Orphanet:248296	Orphanet:98396	\N	"" []	Orphanet:98396	"" []	223857	\N	\N	EFO	1	EFO	Constitutional deficiency anemia	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:98396	"" []	580561	\N	\N	EFO	2	EFO	Rare constitutional anemia	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98396	"" []	1164469	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98396	"" []	2048326	\N	\N	EFO	4	EFO	genetic disorder	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98396	"" []	2048327	\N	\N	EFO	4	EFO	hematological system disease	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98396	"" []	3198369	\N	\N	EFO	5	EFO	disease	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98396	"" []	3198370	\N	\N	EFO	5	EFO	disease	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98396	"" []	4403693	\N	\N	EFO	6	EFO	disposition	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98396	"" []	5419423	\N	\N	EFO	7	EFO	material property	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98396	"" []	6153639	\N	\N	EFO	8	EFO	experimental factor	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
Orphanet:98408	\N	\N	"" []	Orphanet:98408	"" []	78883	\N	\N	EFO	0	EFO	Constitutional megaloblastic anemia due to folate metabolism disorder	Constitutional megaloblastic anemia due to folate metabolism disorder
Orphanet:248296	Orphanet:98408	\N	"" []	Orphanet:98408	"" []	223858	\N	\N	EFO	1	EFO	Constitutional deficiency anemia	Constitutional megaloblastic anemia due to folate metabolism disorder
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:98408	"" []	580562	\N	\N	EFO	2	EFO	Rare constitutional anemia	Constitutional megaloblastic anemia due to folate metabolism disorder
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98408	"" []	1164470	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Constitutional megaloblastic anemia due to folate metabolism disorder
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98408	"" []	2048328	\N	\N	EFO	4	EFO	genetic disorder	Constitutional megaloblastic anemia due to folate metabolism disorder
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98408	"" []	2048329	\N	\N	EFO	4	EFO	hematological system disease	Constitutional megaloblastic anemia due to folate metabolism disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98408	"" []	3198371	\N	\N	EFO	5	EFO	disease	Constitutional megaloblastic anemia due to folate metabolism disorder
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98408	"" []	3198372	\N	\N	EFO	5	EFO	disease	Constitutional megaloblastic anemia due to folate metabolism disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98408	"" []	4403694	\N	\N	EFO	6	EFO	disposition	Constitutional megaloblastic anemia due to folate metabolism disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98408	"" []	5419424	\N	\N	EFO	7	EFO	material property	Constitutional megaloblastic anemia due to folate metabolism disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98408	"" []	6153640	\N	\N	EFO	8	EFO	experimental factor	Constitutional megaloblastic anemia due to folate metabolism disorder
Orphanet:98415	\N	\N	"" []	Orphanet:98415	"" []	78884	\N	\N	EFO	0	EFO	Vitamin B12- and folate-independent constitutional megaloblastic anemia	Vitamin B12- and folate-independent constitutional megaloblastic anemia
Orphanet:248296	Orphanet:98415	\N	"" []	Orphanet:98415	"" []	223859	\N	\N	EFO	1	EFO	Constitutional deficiency anemia	Vitamin B12- and folate-independent constitutional megaloblastic anemia
Orphanet:183651	Orphanet:248296	\N	"" []	Orphanet:98415	"" []	580563	\N	\N	EFO	2	EFO	Rare constitutional anemia	Vitamin B12- and folate-independent constitutional megaloblastic anemia
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98415	"" []	1164471	\N	\N	EFO	3	EFO	Rare genetic hematologic disease	Vitamin B12- and folate-independent constitutional megaloblastic anemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98415	"" []	2048330	\N	\N	EFO	4	EFO	genetic disorder	Vitamin B12- and folate-independent constitutional megaloblastic anemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98415	"" []	2048331	\N	\N	EFO	4	EFO	hematological system disease	Vitamin B12- and folate-independent constitutional megaloblastic anemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98415	"" []	3198373	\N	\N	EFO	5	EFO	disease	Vitamin B12- and folate-independent constitutional megaloblastic anemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98415	"" []	3198374	\N	\N	EFO	5	EFO	disease	Vitamin B12- and folate-independent constitutional megaloblastic anemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98415	"" []	4403695	\N	\N	EFO	6	EFO	disposition	Vitamin B12- and folate-independent constitutional megaloblastic anemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98415	"" []	5419425	\N	\N	EFO	7	EFO	material property	Vitamin B12- and folate-independent constitutional megaloblastic anemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98415	"" []	6153641	\N	\N	EFO	8	EFO	experimental factor	Vitamin B12- and folate-independent constitutional megaloblastic anemia
Orphanet:98428	\N	\N	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	Orphanet:98428	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	78885	\N	\N	EFO	0	EFO	Secondary polycythemia	Secondary polycythemia
Orphanet:250165	Orphanet:98428	\N	"" []	Orphanet:98428	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	223860	\N	\N	EFO	1	EFO	Genetic polycythemia	Secondary polycythemia
EFO:0005804	Orphanet:250165	\N	"Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." []	Orphanet:98428	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	580564	\N	\N	EFO	2	EFO	polycythemia	Secondary polycythemia
Orphanet:158300	Orphanet:250165	\N	"" []	Orphanet:98428	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	580565	\N	\N	EFO	2	EFO	Rare genetic hematologic disease	Secondary polycythemia
EFO:0005803	EFO:0005804	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98428	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	1164472	\N	\N	EFO	3	EFO	hematological system disease	Secondary polycythemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98428	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	1164473	\N	\N	EFO	3	EFO	genetic disorder	Secondary polycythemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98428	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	1164474	\N	\N	EFO	3	EFO	hematological system disease	Secondary polycythemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98428	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	2048332	\N	\N	EFO	4	EFO	disease	Secondary polycythemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98428	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	2048333	\N	\N	EFO	4	EFO	disease	Secondary polycythemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98428	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	3198375	\N	\N	EFO	5	EFO	disposition	Secondary polycythemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98428	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	4403696	\N	\N	EFO	6	EFO	material property	Secondary polycythemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98428	"Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." []	5419426	\N	\N	EFO	7	EFO	experimental factor	Secondary polycythemia
Orphanet:98434	\N	\N	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	78886	\N	\N	EFO	0	EFO	Hereditary combined deficiency of vitamin K-dependent clotting factors	Hereditary combined deficiency of vitamin K-dependent clotting factors
Orphanet:169826	Orphanet:98434	\N	"" []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	223861	\N	\N	EFO	1	EFO	Congenital vitamin K-dependent coagulation factors deficiency	Hereditary combined deficiency of vitamin K-dependent clotting factors
Orphanet:309833	Orphanet:98434	\N	"" []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	223862	\N	\N	EFO	1	EFO	Disorder of other vitamins and cofactors metabolism and transport	Hereditary combined deficiency of vitamin K-dependent clotting factors
Orphanet:68334	Orphanet:169826	\N	"" []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	580566	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Hereditary combined deficiency of vitamin K-dependent clotting factors
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	580567	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Hereditary combined deficiency of vitamin K-dependent clotting factors
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	1164475	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Hereditary combined deficiency of vitamin K-dependent clotting factors
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	1164476	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Hereditary combined deficiency of vitamin K-dependent clotting factors
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	2048334	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hereditary combined deficiency of vitamin K-dependent clotting factors
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	2048335	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Hereditary combined deficiency of vitamin K-dependent clotting factors
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	3198376	\N	\N	EFO	5	EFO	genetic disorder	Hereditary combined deficiency of vitamin K-dependent clotting factors
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	3198377	\N	\N	EFO	5	EFO	hematological system disease	Hereditary combined deficiency of vitamin K-dependent clotting factors
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	3198378	\N	\N	EFO	5	EFO	genetic disorder	Hereditary combined deficiency of vitamin K-dependent clotting factors
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	3198379	\N	\N	EFO	5	EFO	metabolic disease	Hereditary combined deficiency of vitamin K-dependent clotting factors
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	4403697	\N	\N	EFO	6	EFO	disease	Hereditary combined deficiency of vitamin K-dependent clotting factors
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	4403698	\N	\N	EFO	6	EFO	disease	Hereditary combined deficiency of vitamin K-dependent clotting factors
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	4403699	\N	\N	EFO	6	EFO	disease	Hereditary combined deficiency of vitamin K-dependent clotting factors
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	5419427	\N	\N	EFO	7	EFO	disposition	Hereditary combined deficiency of vitamin K-dependent clotting factors
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	6153642	\N	\N	EFO	8	EFO	material property	Hereditary combined deficiency of vitamin K-dependent clotting factors
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98434	"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." []	6634527	\N	\N	EFO	9	EFO	experimental factor	Hereditary combined deficiency of vitamin K-dependent clotting factors
Orphanet:98454	\N	\N	"" []	Orphanet:98454	"" []	78887	\N	\N	EFO	0	EFO	Platelet storage pool disease	Platelet storage pool disease
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:98454	"" []	223863	\N	\N	EFO	1	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Platelet storage pool disease
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:98454	"" []	580568	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Platelet storage pool disease
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:98454	"" []	1164477	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Platelet storage pool disease
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:98454	"" []	2048336	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Platelet storage pool disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98454	"" []	3198380	\N	\N	EFO	5	EFO	genetic disorder	Platelet storage pool disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98454	"" []	3198381	\N	\N	EFO	5	EFO	hematological system disease	Platelet storage pool disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98454	"" []	4403700	\N	\N	EFO	6	EFO	disease	Platelet storage pool disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98454	"" []	4403701	\N	\N	EFO	6	EFO	disease	Platelet storage pool disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98454	"" []	5419428	\N	\N	EFO	7	EFO	disposition	Platelet storage pool disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98454	"" []	6153643	\N	\N	EFO	8	EFO	material property	Platelet storage pool disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98454	"" []	6634528	\N	\N	EFO	9	EFO	experimental factor	Platelet storage pool disease
Orphanet:98455	\N	\N	"" []	Orphanet:98455	"" []	78888	\N	\N	EFO	0	EFO	Alpha granule disease	Alpha granule disease
Orphanet:98454	Orphanet:98455	\N	"" []	Orphanet:98455	"" []	223864	\N	\N	EFO	1	EFO	Platelet storage pool disease	Alpha granule disease
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:98455	"" []	580569	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Alpha granule disease
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:98455	"" []	1164478	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Alpha granule disease
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:98455	"" []	2048337	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Alpha granule disease
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:98455	"" []	3198382	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Alpha granule disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98455	"" []	4403702	\N	\N	EFO	6	EFO	genetic disorder	Alpha granule disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98455	"" []	4403703	\N	\N	EFO	6	EFO	hematological system disease	Alpha granule disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98455	"" []	5419429	\N	\N	EFO	7	EFO	disease	Alpha granule disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98455	"" []	5419430	\N	\N	EFO	7	EFO	disease	Alpha granule disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98455	"" []	6153644	\N	\N	EFO	8	EFO	disposition	Alpha granule disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98455	"" []	6634529	\N	\N	EFO	9	EFO	material property	Alpha granule disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98455	"" []	6926386	\N	\N	EFO	10	EFO	experimental factor	Alpha granule disease
Orphanet:98456	\N	\N	"" []	Orphanet:98456	"" []	78889	\N	\N	EFO	0	EFO	Dense granule disease	Dense granule disease
Orphanet:98454	Orphanet:98456	\N	"" []	Orphanet:98456	"" []	223865	\N	\N	EFO	1	EFO	Platelet storage pool disease	Dense granule disease
Orphanet:275729	Orphanet:98454	\N	"" []	Orphanet:98456	"" []	580570	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Dense granule disease
Orphanet:71202	Orphanet:275729	\N	"" []	Orphanet:98456	"" []	1164479	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Dense granule disease
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:98456	"" []	2048338	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Dense granule disease
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:98456	"" []	3198383	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Dense granule disease
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98456	"" []	4403704	\N	\N	EFO	6	EFO	genetic disorder	Dense granule disease
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98456	"" []	4403705	\N	\N	EFO	6	EFO	hematological system disease	Dense granule disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98456	"" []	5419431	\N	\N	EFO	7	EFO	disease	Dense granule disease
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98456	"" []	5419432	\N	\N	EFO	7	EFO	disease	Dense granule disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98456	"" []	6153645	\N	\N	EFO	8	EFO	disposition	Dense granule disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98456	"" []	6634530	\N	\N	EFO	9	EFO	material property	Dense granule disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98456	"" []	6926387	\N	\N	EFO	10	EFO	experimental factor	Dense granule disease
Orphanet:98464	\N	\N	"" []	Orphanet:98464	"" []	78890	\N	\N	EFO	0	EFO	X-linked syndromic intellectual disability	X-linked syndromic intellectual disability
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:98464	"" []	223866	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked syndromic intellectual disability
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:98464	"" []	580571	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	X-linked syndromic intellectual disability
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:98464	"" []	1164480	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	X-linked syndromic intellectual disability
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98464	"" []	2048339	\N	\N	EFO	4	EFO	genetic disorder	X-linked syndromic intellectual disability
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98464	"" []	3198384	\N	\N	EFO	5	EFO	disease	X-linked syndromic intellectual disability
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98464	"" []	4403706	\N	\N	EFO	6	EFO	disposition	X-linked syndromic intellectual disability
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98464	"" []	5419433	\N	\N	EFO	7	EFO	material property	X-linked syndromic intellectual disability
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98464	"" []	6153646	\N	\N	EFO	8	EFO	experimental factor	X-linked syndromic intellectual disability
Orphanet:98473	\N	\N	"" []	Orphanet:98473	"" []	78891	\N	\N	EFO	0	EFO	Muscular dystrophy	Muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:98473	"" []	223867	\N	\N	EFO	1	EFO	Genetic skeletal muscle disease	Muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98473	"" []	580572	\N	\N	EFO	2	EFO	Genetic neuromuscular disease	Muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98473	"" []	1164481	\N	\N	EFO	3	EFO	muscular disease	Muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98473	"" []	1164482	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98473	"" []	2048340	\N	\N	EFO	4	EFO	skeletal system disease	Muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98473	"" []	2048341	\N	\N	EFO	4	EFO	genetic disorder	Muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98473	"" []	3198385	\N	\N	EFO	5	EFO	disease	Muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98473	"" []	3198386	\N	\N	EFO	5	EFO	disease	Muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98473	"" []	4403707	\N	\N	EFO	6	EFO	disposition	Muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98473	"" []	5419434	\N	\N	EFO	7	EFO	material property	Muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98473	"" []	6153647	\N	\N	EFO	8	EFO	experimental factor	Muscular dystrophy
Orphanet:98486	\N	\N	"" []	Orphanet:98486	"" []	78892	\N	\N	EFO	0	EFO	Metabolic myopathy	Metabolic myopathy
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:98486	"" []	223868	\N	\N	EFO	1	EFO	Non-dystrophic myopathy	Metabolic myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:98486	"" []	580573	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Metabolic myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98486	"" []	1164483	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Metabolic myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98486	"" []	2048342	\N	\N	EFO	4	EFO	muscular disease	Metabolic myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98486	"" []	2048343	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Metabolic myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98486	"" []	3198387	\N	\N	EFO	5	EFO	skeletal system disease	Metabolic myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98486	"" []	3198388	\N	\N	EFO	5	EFO	genetic disorder	Metabolic myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98486	"" []	4403708	\N	\N	EFO	6	EFO	disease	Metabolic myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98486	"" []	4403709	\N	\N	EFO	6	EFO	disease	Metabolic myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98486	"" []	5419435	\N	\N	EFO	7	EFO	disposition	Metabolic myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98486	"" []	6153648	\N	\N	EFO	8	EFO	material property	Metabolic myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98486	"" []	6634531	\N	\N	EFO	9	EFO	experimental factor	Metabolic myopathy
Orphanet:98495	\N	\N	"" []	Orphanet:98495	"" []	78893	\N	\N	EFO	0	EFO	Genetic neuromuscular junction disease	Genetic neuromuscular junction disease
Orphanet:183497	Orphanet:98495	\N	"" []	Orphanet:98495	"" []	223869	\N	\N	EFO	1	EFO	Genetic neuromuscular disease	Genetic neuromuscular junction disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98495	"" []	580574	\N	\N	EFO	2	EFO	muscular disease	Genetic neuromuscular junction disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98495	"" []	580575	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Genetic neuromuscular junction disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98495	"" []	1164484	\N	\N	EFO	3	EFO	skeletal system disease	Genetic neuromuscular junction disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98495	"" []	1164485	\N	\N	EFO	3	EFO	genetic disorder	Genetic neuromuscular junction disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98495	"" []	2048344	\N	\N	EFO	4	EFO	disease	Genetic neuromuscular junction disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98495	"" []	2048345	\N	\N	EFO	4	EFO	disease	Genetic neuromuscular junction disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98495	"" []	3198389	\N	\N	EFO	5	EFO	disposition	Genetic neuromuscular junction disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98495	"" []	4403710	\N	\N	EFO	6	EFO	material property	Genetic neuromuscular junction disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98495	"" []	5419436	\N	\N	EFO	7	EFO	experimental factor	Genetic neuromuscular junction disease
Orphanet:98497	\N	\N	"" []	Orphanet:98497	"" []	78894	\N	\N	EFO	0	EFO	Genetic peripheral neuropathy	Genetic peripheral neuropathy
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:98497	"" []	223870	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Genetic peripheral neuropathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98497	"" []	580576	\N	\N	EFO	2	EFO	genetic disorder	Genetic peripheral neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98497	"" []	1164486	\N	\N	EFO	3	EFO	disease	Genetic peripheral neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98497	"" []	2048346	\N	\N	EFO	4	EFO	disposition	Genetic peripheral neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98497	"" []	3198390	\N	\N	EFO	5	EFO	material property	Genetic peripheral neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98497	"" []	4403711	\N	\N	EFO	6	EFO	experimental factor	Genetic peripheral neuropathy
Orphanet:98505	\N	\N	"" []	Orphanet:98505	"" []	78895	\N	\N	EFO	0	EFO	Genetic motor neuron disease	Genetic motor neuron disease
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:98505	"" []	223871	\N	\N	EFO	1	EFO	Genetic neuromuscular disease	Genetic motor neuron disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98505	"" []	580577	\N	\N	EFO	2	EFO	muscular disease	Genetic motor neuron disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98505	"" []	580578	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Genetic motor neuron disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98505	"" []	1164487	\N	\N	EFO	3	EFO	skeletal system disease	Genetic motor neuron disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98505	"" []	1164488	\N	\N	EFO	3	EFO	genetic disorder	Genetic motor neuron disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98505	"" []	2048347	\N	\N	EFO	4	EFO	disease	Genetic motor neuron disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98505	"" []	2048348	\N	\N	EFO	4	EFO	disease	Genetic motor neuron disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98505	"" []	3198391	\N	\N	EFO	5	EFO	disposition	Genetic motor neuron disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98505	"" []	4403712	\N	\N	EFO	6	EFO	material property	Genetic motor neuron disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98505	"" []	5419437	\N	\N	EFO	7	EFO	experimental factor	Genetic motor neuron disease
Orphanet:98518	\N	\N	"" []	Orphanet:98518	"" []	78896	\N	\N	EFO	0	EFO	Cranial nerve and nuclear aplasia	Cranial nerve and nuclear aplasia
Orphanet:269550	Orphanet:98518	\N	"" []	Orphanet:98518	"" []	223872	\N	\N	EFO	1	EFO	Genetic non-syndromic central nervous system malformation	Cranial nerve and nuclear aplasia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:98518	"" []	580579	\N	\N	EFO	2	EFO	Genetic central nervous system malformation	Cranial nerve and nuclear aplasia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:98518	"" []	1164489	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Cranial nerve and nuclear aplasia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:98518	"" []	1164490	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cranial nerve and nuclear aplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98518	"" []	2048349	\N	\N	EFO	4	EFO	genetic disorder	Cranial nerve and nuclear aplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98518	"" []	2048350	\N	\N	EFO	4	EFO	genetic disorder	Cranial nerve and nuclear aplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98518	"" []	3198392	\N	\N	EFO	5	EFO	disease	Cranial nerve and nuclear aplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98518	"" []	4403713	\N	\N	EFO	6	EFO	disposition	Cranial nerve and nuclear aplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98518	"" []	5419438	\N	\N	EFO	7	EFO	material property	Cranial nerve and nuclear aplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98518	"" []	6153649	\N	\N	EFO	8	EFO	experimental factor	Cranial nerve and nuclear aplasia
Orphanet:98523	\N	\N	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	Orphanet:98523	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	78897	\N	\N	EFO	0	EFO	Non-syndromic pontocerebellar hypoplasia	Non-syndromic pontocerebellar hypoplasia
Orphanet:269557	Orphanet:98523	\N	"" []	Orphanet:98523	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	223873	\N	\N	EFO	1	EFO	Genetic posterior fossa malformation	Non-syndromic pontocerebellar hypoplasia
Orphanet:269550	Orphanet:269557	\N	"" []	Orphanet:98523	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	580580	\N	\N	EFO	2	EFO	Genetic non-syndromic central nervous system malformation	Non-syndromic pontocerebellar hypoplasia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:98523	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	1164491	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Non-syndromic pontocerebellar hypoplasia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:98523	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	2048351	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Non-syndromic pontocerebellar hypoplasia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:98523	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	2048352	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Non-syndromic pontocerebellar hypoplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98523	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	3198393	\N	\N	EFO	5	EFO	genetic disorder	Non-syndromic pontocerebellar hypoplasia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98523	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	3198394	\N	\N	EFO	5	EFO	genetic disorder	Non-syndromic pontocerebellar hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98523	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	4403714	\N	\N	EFO	6	EFO	disease	Non-syndromic pontocerebellar hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98523	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	5419439	\N	\N	EFO	7	EFO	disposition	Non-syndromic pontocerebellar hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98523	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	6153650	\N	\N	EFO	8	EFO	material property	Non-syndromic pontocerebellar hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98523	"Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." []	6634532	\N	\N	EFO	9	EFO	experimental factor	Non-syndromic pontocerebellar hypoplasia
Orphanet:98538	\N	\N	"" []	Orphanet:98538	"" []	78898	\N	\N	EFO	0	EFO	Ataxia with dementia	Ataxia with dementia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98538	"" []	223874	\N	\N	EFO	1	EFO	Genetic neurodegenerative disease with dementia	Ataxia with dementia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98538	"" []	580581	\N	\N	EFO	2	EFO	Genetic dementia	Ataxia with dementia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98538	"" []	580582	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Ataxia with dementia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98538	"" []	1164492	\N	\N	EFO	3	EFO	brain disease	Ataxia with dementia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98538	"" []	1164493	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ataxia with dementia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98538	"" []	1164494	\N	\N	EFO	3	EFO	neurodegenerative disease	Ataxia with dementia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98538	"" []	1164495	\N	\N	EFO	3	EFO	brain disease	Ataxia with dementia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98538	"" []	1164496	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ataxia with dementia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98538	"" []	2048353	\N	\N	EFO	4	EFO	nervous system disease	Ataxia with dementia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98538	"" []	2048354	\N	\N	EFO	4	EFO	genetic disorder	Ataxia with dementia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98538	"" []	2048355	\N	\N	EFO	4	EFO	nervous system disease	Ataxia with dementia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98538	"" []	3198395	\N	\N	EFO	5	EFO	disease	Ataxia with dementia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98538	"" []	3198396	\N	\N	EFO	5	EFO	disease	Ataxia with dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98538	"" []	4403715	\N	\N	EFO	6	EFO	disposition	Ataxia with dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98538	"" []	5419440	\N	\N	EFO	7	EFO	material property	Ataxia with dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98538	"" []	6153651	\N	\N	EFO	8	EFO	experimental factor	Ataxia with dementia
Orphanet:98539	\N	\N	"" []	Orphanet:98539	"" []	78899	\N	\N	EFO	0	EFO	Early-onset ataxia with dementia	Early-onset ataxia with dementia
Orphanet:98538	Orphanet:98539	\N	"" []	Orphanet:98539	"" []	223875	\N	\N	EFO	1	EFO	Ataxia with dementia	Early-onset ataxia with dementia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98539	"" []	580583	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease with dementia	Early-onset ataxia with dementia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98539	"" []	1164497	\N	\N	EFO	3	EFO	Genetic dementia	Early-onset ataxia with dementia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98539	"" []	1164498	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Early-onset ataxia with dementia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98539	"" []	2048356	\N	\N	EFO	4	EFO	brain disease	Early-onset ataxia with dementia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98539	"" []	2048357	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Early-onset ataxia with dementia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98539	"" []	2048358	\N	\N	EFO	4	EFO	neurodegenerative disease	Early-onset ataxia with dementia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98539	"" []	2048359	\N	\N	EFO	4	EFO	brain disease	Early-onset ataxia with dementia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98539	"" []	2048360	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Early-onset ataxia with dementia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98539	"" []	3198397	\N	\N	EFO	5	EFO	nervous system disease	Early-onset ataxia with dementia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98539	"" []	3198398	\N	\N	EFO	5	EFO	genetic disorder	Early-onset ataxia with dementia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98539	"" []	3198399	\N	\N	EFO	5	EFO	nervous system disease	Early-onset ataxia with dementia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98539	"" []	4403716	\N	\N	EFO	6	EFO	disease	Early-onset ataxia with dementia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98539	"" []	4403717	\N	\N	EFO	6	EFO	disease	Early-onset ataxia with dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98539	"" []	5419441	\N	\N	EFO	7	EFO	disposition	Early-onset ataxia with dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98539	"" []	6153652	\N	\N	EFO	8	EFO	material property	Early-onset ataxia with dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98539	"" []	6634533	\N	\N	EFO	9	EFO	experimental factor	Early-onset ataxia with dementia
Orphanet:98540	\N	\N	"" []	Orphanet:98540	"" []	78900	\N	\N	EFO	0	EFO	Late-onset ataxia with dementia	Late-onset ataxia with dementia
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98540	"" []	223876	\N	\N	EFO	1	EFO	Ataxia with dementia	Late-onset ataxia with dementia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98540	"" []	580584	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease with dementia	Late-onset ataxia with dementia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98540	"" []	1164499	\N	\N	EFO	3	EFO	Genetic dementia	Late-onset ataxia with dementia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98540	"" []	1164500	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Late-onset ataxia with dementia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98540	"" []	2048361	\N	\N	EFO	4	EFO	brain disease	Late-onset ataxia with dementia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98540	"" []	2048362	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Late-onset ataxia with dementia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98540	"" []	2048363	\N	\N	EFO	4	EFO	neurodegenerative disease	Late-onset ataxia with dementia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98540	"" []	2048364	\N	\N	EFO	4	EFO	brain disease	Late-onset ataxia with dementia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98540	"" []	2048365	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Late-onset ataxia with dementia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98540	"" []	3198400	\N	\N	EFO	5	EFO	nervous system disease	Late-onset ataxia with dementia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98540	"" []	3198401	\N	\N	EFO	5	EFO	genetic disorder	Late-onset ataxia with dementia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98540	"" []	3198402	\N	\N	EFO	5	EFO	nervous system disease	Late-onset ataxia with dementia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98540	"" []	4403718	\N	\N	EFO	6	EFO	disease	Late-onset ataxia with dementia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98540	"" []	4403719	\N	\N	EFO	6	EFO	disease	Late-onset ataxia with dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98540	"" []	5419442	\N	\N	EFO	7	EFO	disposition	Late-onset ataxia with dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98540	"" []	6153653	\N	\N	EFO	8	EFO	material property	Late-onset ataxia with dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98540	"" []	6634534	\N	\N	EFO	9	EFO	experimental factor	Late-onset ataxia with dementia
Orphanet:98543	\N	\N	"" []	Orphanet:98543	"" []	78901	\N	\N	EFO	0	EFO	Metabolic disease with dementia	Metabolic disease with dementia
Orphanet:158124	Orphanet:98543	\N	"" []	Orphanet:98543	"" []	223877	\N	\N	EFO	1	EFO	Genetic dementia	Metabolic disease with dementia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98543	"" []	580585	\N	\N	EFO	2	EFO	brain disease	Metabolic disease with dementia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98543	"" []	580586	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Metabolic disease with dementia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98543	"" []	1164501	\N	\N	EFO	3	EFO	nervous system disease	Metabolic disease with dementia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98543	"" []	1164502	\N	\N	EFO	3	EFO	genetic disorder	Metabolic disease with dementia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98543	"" []	2048366	\N	\N	EFO	4	EFO	disease	Metabolic disease with dementia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98543	"" []	2048367	\N	\N	EFO	4	EFO	disease	Metabolic disease with dementia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98543	"" []	3198403	\N	\N	EFO	5	EFO	disposition	Metabolic disease with dementia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98543	"" []	4403720	\N	\N	EFO	6	EFO	material property	Metabolic disease with dementia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98543	"" []	5419443	\N	\N	EFO	7	EFO	experimental factor	Metabolic disease with dementia
Orphanet:98554	\N	\N	"" []	Orphanet:98554	"" []	78902	\N	\N	EFO	0	EFO	Major induction processes eye anomaly	Major induction processes eye anomaly
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:98554	"" []	223878	\N	\N	EFO	1	EFO	Genetic developmental defect of the eye	Major induction processes eye anomaly
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98554	"" []	580587	\N	\N	EFO	2	EFO	Rare genetic eye disease	Major induction processes eye anomaly
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98554	"" []	580588	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Major induction processes eye anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98554	"" []	1164503	\N	\N	EFO	3	EFO	genetic disorder	Major induction processes eye anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98554	"" []	1164504	\N	\N	EFO	3	EFO	eye disease	Major induction processes eye anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98554	"" []	1164505	\N	\N	EFO	3	EFO	genetic disorder	Major induction processes eye anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98554	"" []	2048368	\N	\N	EFO	4	EFO	disease	Major induction processes eye anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98554	"" []	2048369	\N	\N	EFO	4	EFO	disease	Major induction processes eye anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98554	"" []	3198404	\N	\N	EFO	5	EFO	disposition	Major induction processes eye anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98554	"" []	4403721	\N	\N	EFO	6	EFO	material property	Major induction processes eye anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98554	"" []	5419444	\N	\N	EFO	7	EFO	experimental factor	Major induction processes eye anomaly
Orphanet:98555	\N	\N	"" []	Orphanet:98555	"" []	78903	\N	\N	EFO	0	EFO	Anophthalmia - microphthalmia	Anophthalmia - microphthalmia
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:98555	"" []	223879	\N	\N	EFO	1	EFO	Major induction processes eye anomaly	Anophthalmia - microphthalmia
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:98555	"" []	580589	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Anophthalmia - microphthalmia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98555	"" []	1164506	\N	\N	EFO	3	EFO	Rare genetic eye disease	Anophthalmia - microphthalmia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98555	"" []	1164507	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Anophthalmia - microphthalmia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98555	"" []	2048370	\N	\N	EFO	4	EFO	genetic disorder	Anophthalmia - microphthalmia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98555	"" []	2048371	\N	\N	EFO	4	EFO	eye disease	Anophthalmia - microphthalmia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98555	"" []	2048372	\N	\N	EFO	4	EFO	genetic disorder	Anophthalmia - microphthalmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98555	"" []	3198405	\N	\N	EFO	5	EFO	disease	Anophthalmia - microphthalmia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98555	"" []	3198406	\N	\N	EFO	5	EFO	disease	Anophthalmia - microphthalmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98555	"" []	4403722	\N	\N	EFO	6	EFO	disposition	Anophthalmia - microphthalmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98555	"" []	5419445	\N	\N	EFO	7	EFO	material property	Anophthalmia - microphthalmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98555	"" []	6153654	\N	\N	EFO	8	EFO	experimental factor	Anophthalmia - microphthalmia
Orphanet:98557	\N	\N	"" []	Orphanet:98557	"" []	78904	\N	\N	EFO	0	EFO	Syndromic aniridia	Syndromic aniridia
Orphanet:77	Orphanet:98557	\N	"Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." []	Orphanet:98557	"" []	223880	\N	\N	EFO	1	EFO	Aniridia	Syndromic aniridia
Orphanet:98554	Orphanet:77	\N	"" []	Orphanet:98557	"" []	580590	\N	\N	EFO	2	EFO	Major induction processes eye anomaly	Syndromic aniridia
Orphanet:98634	Orphanet:77	\N	"" []	Orphanet:98557	"" []	580591	\N	\N	EFO	2	EFO	Iridogoniodysgenesis	Syndromic aniridia
Orphanet:98641	Orphanet:77	\N	"" []	Orphanet:98557	"" []	580592	\N	\N	EFO	2	EFO	Syndromic cataract	Syndromic aniridia
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:98557	"" []	1164508	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Syndromic aniridia
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:98557	"" []	1164509	\N	\N	EFO	3	EFO	Glaucoma associated with neural crest cell migration anomaly	Syndromic aniridia
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:98557	"" []	1164510	\N	\N	EFO	3	EFO	Rare cataract	Syndromic aniridia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98557	"" []	6153656	\N	\N	EFO	8	EFO	Rare genetic eye disease	Syndromic aniridia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98557	"" []	6153657	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Syndromic aniridia
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:98557	"" []	2048375	\N	\N	EFO	4	EFO	Secondary dysgenetic glaucoma	Syndromic aniridia
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98557	"" []	2048376	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Syndromic aniridia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98557	"" []	6379024	\N	\N	EFO	9	EFO	genetic disorder	Syndromic aniridia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98557	"" []	6379025	\N	\N	EFO	9	EFO	eye disease	Syndromic aniridia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98557	"" []	6379026	\N	\N	EFO	9	EFO	genetic disorder	Syndromic aniridia
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98557	"" []	3198410	\N	\N	EFO	5	EFO	Hereditary glaucoma	Syndromic aniridia
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98557	"" []	3198411	\N	\N	EFO	5	EFO	Rare genetic eye disease	Syndromic aniridia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98557	"" []	6778865	\N	\N	EFO	10	EFO	disease	Syndromic aniridia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98557	"" []	6778866	\N	\N	EFO	10	EFO	disease	Syndromic aniridia
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98557	"" []	4403725	\N	\N	EFO	6	EFO	Non-syndromic developmental defect of the eye	Syndromic aniridia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98557	"" []	7030052	\N	\N	EFO	11	EFO	disposition	Syndromic aniridia
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98557	"" []	5419447	\N	\N	EFO	7	EFO	Genetic developmental defect of the eye	Syndromic aniridia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98557	"" []	7181838	\N	\N	EFO	12	EFO	material property	Syndromic aniridia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98557	"" []	7279102	\N	\N	EFO	13	EFO	experimental factor	Syndromic aniridia
Orphanet:98558	\N	\N	"" []	Orphanet:98558	"" []	78905	\N	\N	EFO	0	EFO	Rare eye disease due to a differentiation anomaly	Rare eye disease due to a differentiation anomaly
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:98558	"" []	223881	\N	\N	EFO	1	EFO	Genetic developmental defect of the eye	Rare eye disease due to a differentiation anomaly
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98558	"" []	580593	\N	\N	EFO	2	EFO	Rare genetic eye disease	Rare eye disease due to a differentiation anomaly
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98558	"" []	580594	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Rare eye disease due to a differentiation anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98558	"" []	1164511	\N	\N	EFO	3	EFO	genetic disorder	Rare eye disease due to a differentiation anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98558	"" []	1164512	\N	\N	EFO	3	EFO	eye disease	Rare eye disease due to a differentiation anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98558	"" []	1164513	\N	\N	EFO	3	EFO	genetic disorder	Rare eye disease due to a differentiation anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98558	"" []	2048377	\N	\N	EFO	4	EFO	disease	Rare eye disease due to a differentiation anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98558	"" []	2048378	\N	\N	EFO	4	EFO	disease	Rare eye disease due to a differentiation anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98558	"" []	3198412	\N	\N	EFO	5	EFO	disposition	Rare eye disease due to a differentiation anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98558	"" []	4403728	\N	\N	EFO	6	EFO	material property	Rare eye disease due to a differentiation anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98558	"" []	5419448	\N	\N	EFO	7	EFO	experimental factor	Rare eye disease due to a differentiation anomaly
Orphanet:98560	\N	\N	"" []	Orphanet:98560	"" []	78906	\N	\N	EFO	0	EFO	Rare palpebral disease	Rare palpebral disease
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98560	"" []	223882	\N	\N	EFO	1	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Rare palpebral disease
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98560	"" []	580595	\N	\N	EFO	2	EFO	Rare genetic eye disease	Rare palpebral disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98560	"" []	1164514	\N	\N	EFO	3	EFO	genetic disorder	Rare palpebral disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98560	"" []	1164515	\N	\N	EFO	3	EFO	eye disease	Rare palpebral disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98560	"" []	2048379	\N	\N	EFO	4	EFO	disease	Rare palpebral disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98560	"" []	2048380	\N	\N	EFO	4	EFO	disease	Rare palpebral disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98560	"" []	3198413	\N	\N	EFO	5	EFO	disposition	Rare palpebral disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98560	"" []	4403729	\N	\N	EFO	6	EFO	material property	Rare palpebral disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98560	"" []	5419449	\N	\N	EFO	7	EFO	experimental factor	Rare palpebral disease
Orphanet:98561	\N	\N	"" []	Orphanet:98561	"" []	78907	\N	\N	EFO	0	EFO	Eyelid malformation	Eyelid malformation
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:98561	"" []	223883	\N	\N	EFO	1	EFO	Rare palpebral disease	Eyelid malformation
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98561	"" []	580596	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Eyelid malformation
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98561	"" []	1164516	\N	\N	EFO	3	EFO	Rare genetic eye disease	Eyelid malformation
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98561	"" []	2048381	\N	\N	EFO	4	EFO	genetic disorder	Eyelid malformation
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98561	"" []	2048382	\N	\N	EFO	4	EFO	eye disease	Eyelid malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98561	"" []	3198414	\N	\N	EFO	5	EFO	disease	Eyelid malformation
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98561	"" []	3198415	\N	\N	EFO	5	EFO	disease	Eyelid malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98561	"" []	4403730	\N	\N	EFO	6	EFO	disposition	Eyelid malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98561	"" []	5419450	\N	\N	EFO	7	EFO	material property	Eyelid malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98561	"" []	6153658	\N	\N	EFO	8	EFO	experimental factor	Eyelid malformation
Orphanet:98562	\N	\N	"" []	Orphanet:98562	"" []	78908	\N	\N	EFO	0	EFO	Cryptophthalmia	Cryptophthalmia
Orphanet:98561	Orphanet:98562	\N	"" []	Orphanet:98562	"" []	223884	\N	\N	EFO	1	EFO	Eyelid malformation	Cryptophthalmia
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:98562	"" []	580597	\N	\N	EFO	2	EFO	Rare palpebral disease	Cryptophthalmia
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98562	"" []	1164517	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Cryptophthalmia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98562	"" []	2048383	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cryptophthalmia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98562	"" []	3198416	\N	\N	EFO	5	EFO	genetic disorder	Cryptophthalmia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98562	"" []	3198417	\N	\N	EFO	5	EFO	eye disease	Cryptophthalmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98562	"" []	4403731	\N	\N	EFO	6	EFO	disease	Cryptophthalmia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98562	"" []	4403732	\N	\N	EFO	6	EFO	disease	Cryptophthalmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98562	"" []	5419451	\N	\N	EFO	7	EFO	disposition	Cryptophthalmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98562	"" []	6153659	\N	\N	EFO	8	EFO	material property	Cryptophthalmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98562	"" []	6634536	\N	\N	EFO	9	EFO	experimental factor	Cryptophthalmia
Orphanet:98563	\N	\N	"" []	Orphanet:98563	"" []	78909	\N	\N	EFO	0	EFO	Microblepharon - ablephara	Microblepharon - ablephara
Orphanet:98561	Orphanet:98563	\N	"" []	Orphanet:98563	"" []	223885	\N	\N	EFO	1	EFO	Eyelid malformation	Microblepharon - ablephara
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:98563	"" []	580598	\N	\N	EFO	2	EFO	Rare palpebral disease	Microblepharon - ablephara
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98563	"" []	1164518	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Microblepharon - ablephara
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98563	"" []	2048384	\N	\N	EFO	4	EFO	Rare genetic eye disease	Microblepharon - ablephara
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98563	"" []	3198418	\N	\N	EFO	5	EFO	genetic disorder	Microblepharon - ablephara
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98563	"" []	3198419	\N	\N	EFO	5	EFO	eye disease	Microblepharon - ablephara
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98563	"" []	4403733	\N	\N	EFO	6	EFO	disease	Microblepharon - ablephara
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98563	"" []	4403734	\N	\N	EFO	6	EFO	disease	Microblepharon - ablephara
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98563	"" []	5419452	\N	\N	EFO	7	EFO	disposition	Microblepharon - ablephara
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98563	"" []	6153660	\N	\N	EFO	8	EFO	material property	Microblepharon - ablephara
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98563	"" []	6634537	\N	\N	EFO	9	EFO	experimental factor	Microblepharon - ablephara
Orphanet:98564	\N	\N	"" []	Orphanet:98564	"" []	78910	\N	\N	EFO	0	EFO	Eyelid border anomaly	Eyelid border anomaly
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:98564	"" []	223886	\N	\N	EFO	1	EFO	Eyelid malformation	Eyelid border anomaly
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:98564	"" []	580599	\N	\N	EFO	2	EFO	Rare palpebral disease	Eyelid border anomaly
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98564	"" []	1164519	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Eyelid border anomaly
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98564	"" []	2048385	\N	\N	EFO	4	EFO	Rare genetic eye disease	Eyelid border anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98564	"" []	3198420	\N	\N	EFO	5	EFO	genetic disorder	Eyelid border anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98564	"" []	3198421	\N	\N	EFO	5	EFO	eye disease	Eyelid border anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98564	"" []	4403735	\N	\N	EFO	6	EFO	disease	Eyelid border anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98564	"" []	4403736	\N	\N	EFO	6	EFO	disease	Eyelid border anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98564	"" []	5419453	\N	\N	EFO	7	EFO	disposition	Eyelid border anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98564	"" []	6153661	\N	\N	EFO	8	EFO	material property	Eyelid border anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98564	"" []	6634538	\N	\N	EFO	9	EFO	experimental factor	Eyelid border anomaly
Orphanet:98565	\N	\N	"" []	Orphanet:98565	"" []	78911	\N	\N	EFO	0	EFO	Syndromic ankyloblepharon	Syndromic ankyloblepharon
Orphanet:98564	Orphanet:98565	\N	"" []	Orphanet:98565	"" []	223887	\N	\N	EFO	1	EFO	Eyelid border anomaly	Syndromic ankyloblepharon
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:98565	"" []	580600	\N	\N	EFO	2	EFO	Eyelid malformation	Syndromic ankyloblepharon
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:98565	"" []	1164520	\N	\N	EFO	3	EFO	Rare palpebral disease	Syndromic ankyloblepharon
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98565	"" []	2048386	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Syndromic ankyloblepharon
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98565	"" []	3198422	\N	\N	EFO	5	EFO	Rare genetic eye disease	Syndromic ankyloblepharon
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98565	"" []	4403737	\N	\N	EFO	6	EFO	genetic disorder	Syndromic ankyloblepharon
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98565	"" []	4403738	\N	\N	EFO	6	EFO	eye disease	Syndromic ankyloblepharon
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98565	"" []	5419454	\N	\N	EFO	7	EFO	disease	Syndromic ankyloblepharon
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98565	"" []	5419455	\N	\N	EFO	7	EFO	disease	Syndromic ankyloblepharon
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98565	"" []	6153662	\N	\N	EFO	8	EFO	disposition	Syndromic ankyloblepharon
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98565	"" []	6634539	\N	\N	EFO	9	EFO	material property	Syndromic ankyloblepharon
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98565	"" []	6926388	\N	\N	EFO	10	EFO	experimental factor	Syndromic ankyloblepharon
Orphanet:98566	\N	\N	"" []	Orphanet:98566	"" []	78912	\N	\N	EFO	0	EFO	Syndromic palpebral coloboma	Syndromic palpebral coloboma
Orphanet:98564	Orphanet:98566	\N	"" []	Orphanet:98566	"" []	223888	\N	\N	EFO	1	EFO	Eyelid border anomaly	Syndromic palpebral coloboma
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:98566	"" []	580601	\N	\N	EFO	2	EFO	Eyelid malformation	Syndromic palpebral coloboma
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:98566	"" []	1164521	\N	\N	EFO	3	EFO	Rare palpebral disease	Syndromic palpebral coloboma
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98566	"" []	2048387	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Syndromic palpebral coloboma
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98566	"" []	3198423	\N	\N	EFO	5	EFO	Rare genetic eye disease	Syndromic palpebral coloboma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98566	"" []	4403739	\N	\N	EFO	6	EFO	genetic disorder	Syndromic palpebral coloboma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98566	"" []	4403740	\N	\N	EFO	6	EFO	eye disease	Syndromic palpebral coloboma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98566	"" []	5419456	\N	\N	EFO	7	EFO	disease	Syndromic palpebral coloboma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98566	"" []	5419457	\N	\N	EFO	7	EFO	disease	Syndromic palpebral coloboma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98566	"" []	6153663	\N	\N	EFO	8	EFO	disposition	Syndromic palpebral coloboma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98566	"" []	6634540	\N	\N	EFO	9	EFO	material property	Syndromic palpebral coloboma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98566	"" []	6926389	\N	\N	EFO	10	EFO	experimental factor	Syndromic palpebral coloboma
Orphanet:98567	\N	\N	"" []	Orphanet:98567	"" []	78913	\N	\N	EFO	0	EFO	Eyelids malposition disorder	Eyelids malposition disorder
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:98567	"" []	223889	\N	\N	EFO	1	EFO	Rare palpebral disease	Eyelids malposition disorder
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98567	"" []	580602	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Eyelids malposition disorder
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98567	"" []	1164522	\N	\N	EFO	3	EFO	Rare genetic eye disease	Eyelids malposition disorder
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98567	"" []	2048388	\N	\N	EFO	4	EFO	genetic disorder	Eyelids malposition disorder
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98567	"" []	2048389	\N	\N	EFO	4	EFO	eye disease	Eyelids malposition disorder
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98567	"" []	3198424	\N	\N	EFO	5	EFO	disease	Eyelids malposition disorder
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98567	"" []	3198425	\N	\N	EFO	5	EFO	disease	Eyelids malposition disorder
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98567	"" []	4403741	\N	\N	EFO	6	EFO	disposition	Eyelids malposition disorder
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98567	"" []	5419458	\N	\N	EFO	7	EFO	material property	Eyelids malposition disorder
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98567	"" []	6153664	\N	\N	EFO	8	EFO	experimental factor	Eyelids malposition disorder
Orphanet:98568	\N	\N	"" []	Orphanet:98568	"" []	78914	\N	\N	EFO	0	EFO	Congenital entropion	Congenital entropion
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:98568	"" []	223890	\N	\N	EFO	1	EFO	Eyelids malposition disorder	Congenital entropion
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:98568	"" []	580603	\N	\N	EFO	2	EFO	Rare palpebral disease	Congenital entropion
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98568	"" []	1164523	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital entropion
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98568	"" []	2048390	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital entropion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98568	"" []	3198426	\N	\N	EFO	5	EFO	genetic disorder	Congenital entropion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98568	"" []	3198427	\N	\N	EFO	5	EFO	eye disease	Congenital entropion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98568	"" []	4403742	\N	\N	EFO	6	EFO	disease	Congenital entropion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98568	"" []	4403743	\N	\N	EFO	6	EFO	disease	Congenital entropion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98568	"" []	5419459	\N	\N	EFO	7	EFO	disposition	Congenital entropion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98568	"" []	6153665	\N	\N	EFO	8	EFO	material property	Congenital entropion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98568	"" []	6634541	\N	\N	EFO	9	EFO	experimental factor	Congenital entropion
Orphanet:98569	\N	\N	"" []	Orphanet:98569	"" []	78915	\N	\N	EFO	0	EFO	Secondary entropion	Secondary entropion
Orphanet:98568	Orphanet:98569	\N	"" []	Orphanet:98569	"" []	223891	\N	\N	EFO	1	EFO	Congenital entropion	Secondary entropion
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:98569	"" []	580604	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Secondary entropion
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:98569	"" []	1164524	\N	\N	EFO	3	EFO	Rare palpebral disease	Secondary entropion
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98569	"" []	2048391	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Secondary entropion
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98569	"" []	3198428	\N	\N	EFO	5	EFO	Rare genetic eye disease	Secondary entropion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98569	"" []	4403744	\N	\N	EFO	6	EFO	genetic disorder	Secondary entropion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98569	"" []	4403745	\N	\N	EFO	6	EFO	eye disease	Secondary entropion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98569	"" []	5419460	\N	\N	EFO	7	EFO	disease	Secondary entropion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98569	"" []	5419461	\N	\N	EFO	7	EFO	disease	Secondary entropion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98569	"" []	6153666	\N	\N	EFO	8	EFO	disposition	Secondary entropion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98569	"" []	6634542	\N	\N	EFO	9	EFO	material property	Secondary entropion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98569	"" []	6926390	\N	\N	EFO	10	EFO	experimental factor	Secondary entropion
Orphanet:98570	\N	\N	"" []	Orphanet:98570	"" []	78916	\N	\N	EFO	0	EFO	Congenital ectropion	Congenital ectropion
Orphanet:98567	Orphanet:98570	\N	"" []	Orphanet:98570	"" []	223892	\N	\N	EFO	1	EFO	Eyelids malposition disorder	Congenital ectropion
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:98570	"" []	580605	\N	\N	EFO	2	EFO	Rare palpebral disease	Congenital ectropion
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98570	"" []	1164525	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital ectropion
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98570	"" []	2048392	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital ectropion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98570	"" []	3198429	\N	\N	EFO	5	EFO	genetic disorder	Congenital ectropion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98570	"" []	3198430	\N	\N	EFO	5	EFO	eye disease	Congenital ectropion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98570	"" []	4403746	\N	\N	EFO	6	EFO	disease	Congenital ectropion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98570	"" []	4403747	\N	\N	EFO	6	EFO	disease	Congenital ectropion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98570	"" []	5419462	\N	\N	EFO	7	EFO	disposition	Congenital ectropion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98570	"" []	6153667	\N	\N	EFO	8	EFO	material property	Congenital ectropion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98570	"" []	6634543	\N	\N	EFO	9	EFO	experimental factor	Congenital ectropion
Orphanet:98571	\N	\N	"" []	Orphanet:98571	"" []	78917	\N	\N	EFO	0	EFO	Secondary ectropion	Secondary ectropion
Orphanet:98567	Orphanet:98571	\N	"" []	Orphanet:98571	"" []	223893	\N	\N	EFO	1	EFO	Eyelids malposition disorder	Secondary ectropion
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:98571	"" []	580606	\N	\N	EFO	2	EFO	Rare palpebral disease	Secondary ectropion
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98571	"" []	1164526	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Secondary ectropion
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98571	"" []	2048393	\N	\N	EFO	4	EFO	Rare genetic eye disease	Secondary ectropion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98571	"" []	3198431	\N	\N	EFO	5	EFO	genetic disorder	Secondary ectropion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98571	"" []	3198432	\N	\N	EFO	5	EFO	eye disease	Secondary ectropion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98571	"" []	4403748	\N	\N	EFO	6	EFO	disease	Secondary ectropion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98571	"" []	4403749	\N	\N	EFO	6	EFO	disease	Secondary ectropion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98571	"" []	5419463	\N	\N	EFO	7	EFO	disposition	Secondary ectropion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98571	"" []	6153668	\N	\N	EFO	8	EFO	material property	Secondary ectropion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98571	"" []	6634544	\N	\N	EFO	9	EFO	experimental factor	Secondary ectropion
Orphanet:98572	\N	\N	"" []	Orphanet:98572	"" []	78918	\N	\N	EFO	0	EFO	Canthal anomaly	Canthal anomaly
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:98572	"" []	223894	\N	\N	EFO	1	EFO	Rare palpebral disease	Canthal anomaly
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98572	"" []	580607	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Canthal anomaly
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98572	"" []	1164527	\N	\N	EFO	3	EFO	Rare genetic eye disease	Canthal anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98572	"" []	2048394	\N	\N	EFO	4	EFO	genetic disorder	Canthal anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98572	"" []	2048395	\N	\N	EFO	4	EFO	eye disease	Canthal anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98572	"" []	3198433	\N	\N	EFO	5	EFO	disease	Canthal anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98572	"" []	3198434	\N	\N	EFO	5	EFO	disease	Canthal anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98572	"" []	4403750	\N	\N	EFO	6	EFO	disposition	Canthal anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98572	"" []	5419464	\N	\N	EFO	7	EFO	material property	Canthal anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98572	"" []	6153669	\N	\N	EFO	8	EFO	experimental factor	Canthal anomaly
Orphanet:98573	\N	\N	"" []	Orphanet:98573	"" []	78919	\N	\N	EFO	0	EFO	Epicanthal fold	Epicanthal fold
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:98573	"" []	223895	\N	\N	EFO	1	EFO	Canthal anomaly	Epicanthal fold
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:98573	"" []	580608	\N	\N	EFO	2	EFO	Rare palpebral disease	Epicanthal fold
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98573	"" []	1164528	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Epicanthal fold
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98573	"" []	2048396	\N	\N	EFO	4	EFO	Rare genetic eye disease	Epicanthal fold
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98573	"" []	3198435	\N	\N	EFO	5	EFO	genetic disorder	Epicanthal fold
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98573	"" []	3198436	\N	\N	EFO	5	EFO	eye disease	Epicanthal fold
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98573	"" []	4403751	\N	\N	EFO	6	EFO	disease	Epicanthal fold
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98573	"" []	4403752	\N	\N	EFO	6	EFO	disease	Epicanthal fold
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98573	"" []	5419465	\N	\N	EFO	7	EFO	disposition	Epicanthal fold
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98573	"" []	6153670	\N	\N	EFO	8	EFO	material property	Epicanthal fold
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98573	"" []	6634545	\N	\N	EFO	9	EFO	experimental factor	Epicanthal fold
Orphanet:98574	\N	\N	"" []	Orphanet:98574	"" []	78920	\N	\N	EFO	0	EFO	Syndromic epicanthus	Syndromic epicanthus
Orphanet:98573	Orphanet:98574	\N	"" []	Orphanet:98574	"" []	223896	\N	\N	EFO	1	EFO	Epicanthal fold	Syndromic epicanthus
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:98574	"" []	580609	\N	\N	EFO	2	EFO	Canthal anomaly	Syndromic epicanthus
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:98574	"" []	1164529	\N	\N	EFO	3	EFO	Rare palpebral disease	Syndromic epicanthus
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98574	"" []	2048397	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Syndromic epicanthus
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98574	"" []	3198437	\N	\N	EFO	5	EFO	Rare genetic eye disease	Syndromic epicanthus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98574	"" []	4403753	\N	\N	EFO	6	EFO	genetic disorder	Syndromic epicanthus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98574	"" []	4403754	\N	\N	EFO	6	EFO	eye disease	Syndromic epicanthus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98574	"" []	5419466	\N	\N	EFO	7	EFO	disease	Syndromic epicanthus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98574	"" []	5419467	\N	\N	EFO	7	EFO	disease	Syndromic epicanthus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98574	"" []	6153671	\N	\N	EFO	8	EFO	disposition	Syndromic epicanthus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98574	"" []	6634546	\N	\N	EFO	9	EFO	material property	Syndromic epicanthus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98574	"" []	6926391	\N	\N	EFO	10	EFO	experimental factor	Syndromic epicanthus
Orphanet:98575	\N	\N	"" []	Orphanet:98575	"" []	78921	\N	\N	EFO	0	EFO	Telecanthus	Telecanthus
Orphanet:98572	Orphanet:98575	\N	"" []	Orphanet:98575	"" []	223897	\N	\N	EFO	1	EFO	Canthal anomaly	Telecanthus
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:98575	"" []	580610	\N	\N	EFO	2	EFO	Rare palpebral disease	Telecanthus
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98575	"" []	1164530	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Telecanthus
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98575	"" []	2048398	\N	\N	EFO	4	EFO	Rare genetic eye disease	Telecanthus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98575	"" []	3198438	\N	\N	EFO	5	EFO	genetic disorder	Telecanthus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98575	"" []	3198439	\N	\N	EFO	5	EFO	eye disease	Telecanthus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98575	"" []	4403755	\N	\N	EFO	6	EFO	disease	Telecanthus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98575	"" []	4403756	\N	\N	EFO	6	EFO	disease	Telecanthus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98575	"" []	5419468	\N	\N	EFO	7	EFO	disposition	Telecanthus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98575	"" []	6153672	\N	\N	EFO	8	EFO	material property	Telecanthus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98575	"" []	6634547	\N	\N	EFO	9	EFO	experimental factor	Telecanthus
Orphanet:98576	\N	\N	"" []	Orphanet:98576	"" []	78922	\N	\N	EFO	0	EFO	Malposition of external canthus	Malposition of external canthus
Orphanet:98572	Orphanet:98576	\N	"" []	Orphanet:98576	"" []	223898	\N	\N	EFO	1	EFO	Canthal anomaly	Malposition of external canthus
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:98576	"" []	580611	\N	\N	EFO	2	EFO	Rare palpebral disease	Malposition of external canthus
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98576	"" []	1164531	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Malposition of external canthus
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98576	"" []	2048399	\N	\N	EFO	4	EFO	Rare genetic eye disease	Malposition of external canthus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98576	"" []	3198440	\N	\N	EFO	5	EFO	genetic disorder	Malposition of external canthus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98576	"" []	3198441	\N	\N	EFO	5	EFO	eye disease	Malposition of external canthus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98576	"" []	4403757	\N	\N	EFO	6	EFO	disease	Malposition of external canthus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98576	"" []	4403758	\N	\N	EFO	6	EFO	disease	Malposition of external canthus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98576	"" []	5419469	\N	\N	EFO	7	EFO	disposition	Malposition of external canthus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98576	"" []	6153673	\N	\N	EFO	8	EFO	material property	Malposition of external canthus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98576	"" []	6634548	\N	\N	EFO	9	EFO	experimental factor	Malposition of external canthus
Orphanet:98577	\N	\N	"" []	Orphanet:98577	"" []	78923	\N	\N	EFO	0	EFO	Kinetic eyelid anomaly	Kinetic eyelid anomaly
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:98577	"" []	223899	\N	\N	EFO	1	EFO	Rare palpebral disease	Kinetic eyelid anomaly
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98577	"" []	580612	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Kinetic eyelid anomaly
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98577	"" []	1164532	\N	\N	EFO	3	EFO	Rare genetic eye disease	Kinetic eyelid anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98577	"" []	2048400	\N	\N	EFO	4	EFO	genetic disorder	Kinetic eyelid anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98577	"" []	2048401	\N	\N	EFO	4	EFO	eye disease	Kinetic eyelid anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98577	"" []	3198442	\N	\N	EFO	5	EFO	disease	Kinetic eyelid anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98577	"" []	3198443	\N	\N	EFO	5	EFO	disease	Kinetic eyelid anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98577	"" []	4403759	\N	\N	EFO	6	EFO	disposition	Kinetic eyelid anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98577	"" []	5419470	\N	\N	EFO	7	EFO	material property	Kinetic eyelid anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98577	"" []	6153674	\N	\N	EFO	8	EFO	experimental factor	Kinetic eyelid anomaly
Orphanet:98578	\N	\N	"" []	Orphanet:98578	"" []	78924	\N	\N	EFO	0	EFO	Ptosis	Ptosis
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:98578	"" []	223900	\N	\N	EFO	1	EFO	Kinetic eyelid anomaly	Ptosis
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:98578	"" []	580613	\N	\N	EFO	2	EFO	Rare palpebral disease	Ptosis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98578	"" []	1164533	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Ptosis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98578	"" []	2048402	\N	\N	EFO	4	EFO	Rare genetic eye disease	Ptosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98578	"" []	3198444	\N	\N	EFO	5	EFO	genetic disorder	Ptosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98578	"" []	3198445	\N	\N	EFO	5	EFO	eye disease	Ptosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98578	"" []	4403760	\N	\N	EFO	6	EFO	disease	Ptosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98578	"" []	4403761	\N	\N	EFO	6	EFO	disease	Ptosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98578	"" []	5419471	\N	\N	EFO	7	EFO	disposition	Ptosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98578	"" []	6153675	\N	\N	EFO	8	EFO	material property	Ptosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98578	"" []	6634549	\N	\N	EFO	9	EFO	experimental factor	Ptosis
Orphanet:98579	\N	\N	"" []	Orphanet:98579	"" []	78925	\N	\N	EFO	0	EFO	Congenital upper palpebral retraction	Congenital upper palpebral retraction
Orphanet:98577	Orphanet:98579	\N	"" []	Orphanet:98579	"" []	223901	\N	\N	EFO	1	EFO	Kinetic eyelid anomaly	Congenital upper palpebral retraction
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:98579	"" []	580614	\N	\N	EFO	2	EFO	Rare palpebral disease	Congenital upper palpebral retraction
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98579	"" []	1164534	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital upper palpebral retraction
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98579	"" []	2048403	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital upper palpebral retraction
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98579	"" []	3198446	\N	\N	EFO	5	EFO	genetic disorder	Congenital upper palpebral retraction
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98579	"" []	3198447	\N	\N	EFO	5	EFO	eye disease	Congenital upper palpebral retraction
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98579	"" []	4403762	\N	\N	EFO	6	EFO	disease	Congenital upper palpebral retraction
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98579	"" []	4403763	\N	\N	EFO	6	EFO	disease	Congenital upper palpebral retraction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98579	"" []	5419472	\N	\N	EFO	7	EFO	disposition	Congenital upper palpebral retraction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98579	"" []	6153676	\N	\N	EFO	8	EFO	material property	Congenital upper palpebral retraction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98579	"" []	6634550	\N	\N	EFO	9	EFO	experimental factor	Congenital upper palpebral retraction
Orphanet:98580	\N	\N	"" []	Orphanet:98580	"" []	78926	\N	\N	EFO	0	EFO	Palpebral tumor	Palpebral tumor
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:98580	"" []	223902	\N	\N	EFO	1	EFO	Rare palpebral disease	Palpebral tumor
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98580	"" []	580615	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Palpebral tumor
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98580	"" []	1164535	\N	\N	EFO	3	EFO	Rare genetic eye disease	Palpebral tumor
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98580	"" []	2048404	\N	\N	EFO	4	EFO	genetic disorder	Palpebral tumor
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98580	"" []	2048405	\N	\N	EFO	4	EFO	eye disease	Palpebral tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98580	"" []	3198448	\N	\N	EFO	5	EFO	disease	Palpebral tumor
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98580	"" []	3198449	\N	\N	EFO	5	EFO	disease	Palpebral tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98580	"" []	4403764	\N	\N	EFO	6	EFO	disposition	Palpebral tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98580	"" []	5419473	\N	\N	EFO	7	EFO	material property	Palpebral tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98580	"" []	6153677	\N	\N	EFO	8	EFO	experimental factor	Palpebral tumor
Orphanet:98583	\N	\N	"" []	Orphanet:98583	"" []	78927	\N	\N	EFO	0	EFO	Precancerous lesion of palpebral epidermis	Precancerous lesion of palpebral epidermis
Orphanet:98580	Orphanet:98583	\N	"" []	Orphanet:98583	"" []	223903	\N	\N	EFO	1	EFO	Palpebral tumor	Precancerous lesion of palpebral epidermis
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:98583	"" []	580616	\N	\N	EFO	2	EFO	Rare palpebral disease	Precancerous lesion of palpebral epidermis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98583	"" []	1164536	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Precancerous lesion of palpebral epidermis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98583	"" []	2048406	\N	\N	EFO	4	EFO	Rare genetic eye disease	Precancerous lesion of palpebral epidermis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98583	"" []	3198450	\N	\N	EFO	5	EFO	genetic disorder	Precancerous lesion of palpebral epidermis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98583	"" []	3198451	\N	\N	EFO	5	EFO	eye disease	Precancerous lesion of palpebral epidermis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98583	"" []	4403765	\N	\N	EFO	6	EFO	disease	Precancerous lesion of palpebral epidermis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98583	"" []	4403766	\N	\N	EFO	6	EFO	disease	Precancerous lesion of palpebral epidermis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98583	"" []	5419474	\N	\N	EFO	7	EFO	disposition	Precancerous lesion of palpebral epidermis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98583	"" []	6153678	\N	\N	EFO	8	EFO	material property	Precancerous lesion of palpebral epidermis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98583	"" []	6634551	\N	\N	EFO	9	EFO	experimental factor	Precancerous lesion of palpebral epidermis
Orphanet:98584	\N	\N	"" []	Orphanet:98584	"" []	78928	\N	\N	EFO	0	EFO	Malignant tumor of palpebral epidermis	Malignant tumor of palpebral epidermis
Orphanet:98580	Orphanet:98584	\N	"" []	Orphanet:98584	"" []	223904	\N	\N	EFO	1	EFO	Palpebral tumor	Malignant tumor of palpebral epidermis
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:98584	"" []	580617	\N	\N	EFO	2	EFO	Rare palpebral disease	Malignant tumor of palpebral epidermis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98584	"" []	1164537	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Malignant tumor of palpebral epidermis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98584	"" []	2048407	\N	\N	EFO	4	EFO	Rare genetic eye disease	Malignant tumor of palpebral epidermis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98584	"" []	3198452	\N	\N	EFO	5	EFO	genetic disorder	Malignant tumor of palpebral epidermis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98584	"" []	3198453	\N	\N	EFO	5	EFO	eye disease	Malignant tumor of palpebral epidermis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98584	"" []	4403767	\N	\N	EFO	6	EFO	disease	Malignant tumor of palpebral epidermis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98584	"" []	4403768	\N	\N	EFO	6	EFO	disease	Malignant tumor of palpebral epidermis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98584	"" []	5419475	\N	\N	EFO	7	EFO	disposition	Malignant tumor of palpebral epidermis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98584	"" []	6153679	\N	\N	EFO	8	EFO	material property	Malignant tumor of palpebral epidermis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98584	"" []	6634552	\N	\N	EFO	9	EFO	experimental factor	Malignant tumor of palpebral epidermis
Orphanet:98585	\N	\N	"" []	Orphanet:98585	"" []	78929	\N	\N	EFO	0	EFO	Palpebral sebaceous gland tumor	Palpebral sebaceous gland tumor
Orphanet:98580	Orphanet:98585	\N	"" []	Orphanet:98585	"" []	223905	\N	\N	EFO	1	EFO	Palpebral tumor	Palpebral sebaceous gland tumor
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:98585	"" []	580618	\N	\N	EFO	2	EFO	Rare palpebral disease	Palpebral sebaceous gland tumor
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98585	"" []	1164538	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Palpebral sebaceous gland tumor
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98585	"" []	2048408	\N	\N	EFO	4	EFO	Rare genetic eye disease	Palpebral sebaceous gland tumor
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98585	"" []	3198454	\N	\N	EFO	5	EFO	genetic disorder	Palpebral sebaceous gland tumor
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98585	"" []	3198455	\N	\N	EFO	5	EFO	eye disease	Palpebral sebaceous gland tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98585	"" []	4403769	\N	\N	EFO	6	EFO	disease	Palpebral sebaceous gland tumor
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98585	"" []	4403770	\N	\N	EFO	6	EFO	disease	Palpebral sebaceous gland tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98585	"" []	5419476	\N	\N	EFO	7	EFO	disposition	Palpebral sebaceous gland tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98585	"" []	6153680	\N	\N	EFO	8	EFO	material property	Palpebral sebaceous gland tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98585	"" []	6634553	\N	\N	EFO	9	EFO	experimental factor	Palpebral sebaceous gland tumor
Orphanet:98586	\N	\N	"" []	Orphanet:98586	"" []	78930	\N	\N	EFO	0	EFO	Pigmented palpebral tumor	Pigmented palpebral tumor
Orphanet:98580	Orphanet:98586	\N	"" []	Orphanet:98586	"" []	223906	\N	\N	EFO	1	EFO	Palpebral tumor	Pigmented palpebral tumor
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:98586	"" []	580619	\N	\N	EFO	2	EFO	Rare palpebral disease	Pigmented palpebral tumor
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98586	"" []	1164539	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Pigmented palpebral tumor
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98586	"" []	2048409	\N	\N	EFO	4	EFO	Rare genetic eye disease	Pigmented palpebral tumor
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98586	"" []	3198456	\N	\N	EFO	5	EFO	genetic disorder	Pigmented palpebral tumor
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98586	"" []	3198457	\N	\N	EFO	5	EFO	eye disease	Pigmented palpebral tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98586	"" []	4403771	\N	\N	EFO	6	EFO	disease	Pigmented palpebral tumor
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98586	"" []	4403772	\N	\N	EFO	6	EFO	disease	Pigmented palpebral tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98586	"" []	5419477	\N	\N	EFO	7	EFO	disposition	Pigmented palpebral tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98586	"" []	6153681	\N	\N	EFO	8	EFO	material property	Pigmented palpebral tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98586	"" []	6634554	\N	\N	EFO	9	EFO	experimental factor	Pigmented palpebral tumor
Orphanet:98587	\N	\N	"" []	Orphanet:98587	"" []	78931	\N	\N	EFO	0	EFO	Palpebral lentiginosis	Palpebral lentiginosis
Orphanet:98586	Orphanet:98587	\N	"" []	Orphanet:98587	"" []	223907	\N	\N	EFO	1	EFO	Pigmented palpebral tumor	Palpebral lentiginosis
Orphanet:98580	Orphanet:98586	\N	"" []	Orphanet:98587	"" []	580620	\N	\N	EFO	2	EFO	Palpebral tumor	Palpebral lentiginosis
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:98587	"" []	1164540	\N	\N	EFO	3	EFO	Rare palpebral disease	Palpebral lentiginosis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98587	"" []	2048410	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Palpebral lentiginosis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98587	"" []	3198458	\N	\N	EFO	5	EFO	Rare genetic eye disease	Palpebral lentiginosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98587	"" []	4403773	\N	\N	EFO	6	EFO	genetic disorder	Palpebral lentiginosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98587	"" []	4403774	\N	\N	EFO	6	EFO	eye disease	Palpebral lentiginosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98587	"" []	5419478	\N	\N	EFO	7	EFO	disease	Palpebral lentiginosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98587	"" []	5419479	\N	\N	EFO	7	EFO	disease	Palpebral lentiginosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98587	"" []	6153682	\N	\N	EFO	8	EFO	disposition	Palpebral lentiginosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98587	"" []	6634555	\N	\N	EFO	9	EFO	material property	Palpebral lentiginosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98587	"" []	6926392	\N	\N	EFO	10	EFO	experimental factor	Palpebral lentiginosis
Orphanet:98588	\N	\N	"" []	Orphanet:98588	"" []	78932	\N	\N	EFO	0	EFO	Palpebral nevus	Palpebral nevus
Orphanet:98586	Orphanet:98588	\N	"" []	Orphanet:98588	"" []	223908	\N	\N	EFO	1	EFO	Pigmented palpebral tumor	Palpebral nevus
Orphanet:98580	Orphanet:98586	\N	"" []	Orphanet:98588	"" []	580621	\N	\N	EFO	2	EFO	Palpebral tumor	Palpebral nevus
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:98588	"" []	1164541	\N	\N	EFO	3	EFO	Rare palpebral disease	Palpebral nevus
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98588	"" []	2048411	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Palpebral nevus
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98588	"" []	3198459	\N	\N	EFO	5	EFO	Rare genetic eye disease	Palpebral nevus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98588	"" []	4403775	\N	\N	EFO	6	EFO	genetic disorder	Palpebral nevus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98588	"" []	4403776	\N	\N	EFO	6	EFO	eye disease	Palpebral nevus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98588	"" []	5419480	\N	\N	EFO	7	EFO	disease	Palpebral nevus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98588	"" []	5419481	\N	\N	EFO	7	EFO	disease	Palpebral nevus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98588	"" []	6153683	\N	\N	EFO	8	EFO	disposition	Palpebral nevus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98588	"" []	6634556	\N	\N	EFO	9	EFO	material property	Palpebral nevus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98588	"" []	6926393	\N	\N	EFO	10	EFO	experimental factor	Palpebral nevus
Orphanet:98589	\N	\N	"" []	Orphanet:98589	"" []	78933	\N	\N	EFO	0	EFO	Palpebral malignant melanoma	Palpebral malignant melanoma
Orphanet:98586	Orphanet:98589	\N	"" []	Orphanet:98589	"" []	223909	\N	\N	EFO	1	EFO	Pigmented palpebral tumor	Palpebral malignant melanoma
Orphanet:98580	Orphanet:98586	\N	"" []	Orphanet:98589	"" []	580622	\N	\N	EFO	2	EFO	Palpebral tumor	Palpebral malignant melanoma
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:98589	"" []	1164542	\N	\N	EFO	3	EFO	Rare palpebral disease	Palpebral malignant melanoma
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98589	"" []	2048412	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Palpebral malignant melanoma
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98589	"" []	3198460	\N	\N	EFO	5	EFO	Rare genetic eye disease	Palpebral malignant melanoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98589	"" []	4403777	\N	\N	EFO	6	EFO	genetic disorder	Palpebral malignant melanoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98589	"" []	4403778	\N	\N	EFO	6	EFO	eye disease	Palpebral malignant melanoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98589	"" []	5419482	\N	\N	EFO	7	EFO	disease	Palpebral malignant melanoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98589	"" []	5419483	\N	\N	EFO	7	EFO	disease	Palpebral malignant melanoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98589	"" []	6153684	\N	\N	EFO	8	EFO	disposition	Palpebral malignant melanoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98589	"" []	6634557	\N	\N	EFO	9	EFO	material property	Palpebral malignant melanoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98589	"" []	6926394	\N	\N	EFO	10	EFO	experimental factor	Palpebral malignant melanoma
Orphanet:98590	\N	\N	"" []	Orphanet:98590	"" []	78934	\N	\N	EFO	0	EFO	Palpebral piliary tumor	Palpebral piliary tumor
Orphanet:98580	Orphanet:98590	\N	"" []	Orphanet:98590	"" []	223910	\N	\N	EFO	1	EFO	Palpebral tumor	Palpebral piliary tumor
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:98590	"" []	580623	\N	\N	EFO	2	EFO	Rare palpebral disease	Palpebral piliary tumor
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98590	"" []	1164543	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Palpebral piliary tumor
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98590	"" []	2048413	\N	\N	EFO	4	EFO	Rare genetic eye disease	Palpebral piliary tumor
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98590	"" []	3198461	\N	\N	EFO	5	EFO	genetic disorder	Palpebral piliary tumor
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98590	"" []	3198462	\N	\N	EFO	5	EFO	eye disease	Palpebral piliary tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98590	"" []	4403779	\N	\N	EFO	6	EFO	disease	Palpebral piliary tumor
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98590	"" []	4403780	\N	\N	EFO	6	EFO	disease	Palpebral piliary tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98590	"" []	5419484	\N	\N	EFO	7	EFO	disposition	Palpebral piliary tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98590	"" []	6153685	\N	\N	EFO	8	EFO	material property	Palpebral piliary tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98590	"" []	6634558	\N	\N	EFO	9	EFO	experimental factor	Palpebral piliary tumor
Orphanet:98591	\N	\N	"" []	Orphanet:98591	"" []	78935	\N	\N	EFO	0	EFO	Mesenchymatous palpebral tumor	Mesenchymatous palpebral tumor
Orphanet:98580	Orphanet:98591	\N	"" []	Orphanet:98591	"" []	223911	\N	\N	EFO	1	EFO	Palpebral tumor	Mesenchymatous palpebral tumor
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:98591	"" []	580624	\N	\N	EFO	2	EFO	Rare palpebral disease	Mesenchymatous palpebral tumor
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98591	"" []	1164544	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Mesenchymatous palpebral tumor
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98591	"" []	2048414	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mesenchymatous palpebral tumor
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98591	"" []	3198463	\N	\N	EFO	5	EFO	genetic disorder	Mesenchymatous palpebral tumor
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98591	"" []	3198464	\N	\N	EFO	5	EFO	eye disease	Mesenchymatous palpebral tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98591	"" []	4403781	\N	\N	EFO	6	EFO	disease	Mesenchymatous palpebral tumor
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98591	"" []	4403782	\N	\N	EFO	6	EFO	disease	Mesenchymatous palpebral tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98591	"" []	5419485	\N	\N	EFO	7	EFO	disposition	Mesenchymatous palpebral tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98591	"" []	6153686	\N	\N	EFO	8	EFO	material property	Mesenchymatous palpebral tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98591	"" []	6634559	\N	\N	EFO	9	EFO	experimental factor	Mesenchymatous palpebral tumor
Orphanet:98592	\N	\N	"" []	Orphanet:98592	"" []	78936	\N	\N	EFO	0	EFO	Palpebral tumor with a vascular malformation	Palpebral tumor with a vascular malformation
Orphanet:98580	Orphanet:98592	\N	"" []	Orphanet:98592	"" []	223912	\N	\N	EFO	1	EFO	Palpebral tumor	Palpebral tumor with a vascular malformation
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:98592	"" []	580625	\N	\N	EFO	2	EFO	Rare palpebral disease	Palpebral tumor with a vascular malformation
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98592	"" []	1164545	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Palpebral tumor with a vascular malformation
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98592	"" []	2048415	\N	\N	EFO	4	EFO	Rare genetic eye disease	Palpebral tumor with a vascular malformation
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98592	"" []	3198465	\N	\N	EFO	5	EFO	genetic disorder	Palpebral tumor with a vascular malformation
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98592	"" []	3198466	\N	\N	EFO	5	EFO	eye disease	Palpebral tumor with a vascular malformation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98592	"" []	4403783	\N	\N	EFO	6	EFO	disease	Palpebral tumor with a vascular malformation
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98592	"" []	4403784	\N	\N	EFO	6	EFO	disease	Palpebral tumor with a vascular malformation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98592	"" []	5419486	\N	\N	EFO	7	EFO	disposition	Palpebral tumor with a vascular malformation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98592	"" []	6153687	\N	\N	EFO	8	EFO	material property	Palpebral tumor with a vascular malformation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98592	"" []	6634560	\N	\N	EFO	9	EFO	experimental factor	Palpebral tumor with a vascular malformation
Orphanet:98593	\N	\N	"" []	Orphanet:98593	"" []	78937	\N	\N	EFO	0	EFO	Neurogenic palpebral tumor	Neurogenic palpebral tumor
Orphanet:98580	Orphanet:98593	\N	"" []	Orphanet:98593	"" []	223913	\N	\N	EFO	1	EFO	Palpebral tumor	Neurogenic palpebral tumor
Orphanet:98560	Orphanet:98580	\N	"" []	Orphanet:98593	"" []	580626	\N	\N	EFO	2	EFO	Rare palpebral disease	Neurogenic palpebral tumor
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98593	"" []	1164546	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Neurogenic palpebral tumor
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98593	"" []	2048416	\N	\N	EFO	4	EFO	Rare genetic eye disease	Neurogenic palpebral tumor
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98593	"" []	3198467	\N	\N	EFO	5	EFO	genetic disorder	Neurogenic palpebral tumor
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98593	"" []	3198468	\N	\N	EFO	5	EFO	eye disease	Neurogenic palpebral tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98593	"" []	4403785	\N	\N	EFO	6	EFO	disease	Neurogenic palpebral tumor
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98593	"" []	4403786	\N	\N	EFO	6	EFO	disease	Neurogenic palpebral tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98593	"" []	5419487	\N	\N	EFO	7	EFO	disposition	Neurogenic palpebral tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98593	"" []	6153688	\N	\N	EFO	8	EFO	material property	Neurogenic palpebral tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98593	"" []	6634561	\N	\N	EFO	9	EFO	experimental factor	Neurogenic palpebral tumor
Orphanet:98594	\N	\N	"" []	Orphanet:98594	"" []	78938	\N	\N	EFO	0	EFO	Rare eyebrow/eyelashes anomaly	Rare eyebrow/eyelashes anomaly
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:98594	"" []	223914	\N	\N	EFO	1	EFO	Rare palpebral disease	Rare eyebrow/eyelashes anomaly
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98594	"" []	580627	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Rare eyebrow/eyelashes anomaly
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98594	"" []	1164547	\N	\N	EFO	3	EFO	Rare genetic eye disease	Rare eyebrow/eyelashes anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98594	"" []	2048417	\N	\N	EFO	4	EFO	genetic disorder	Rare eyebrow/eyelashes anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98594	"" []	2048418	\N	\N	EFO	4	EFO	eye disease	Rare eyebrow/eyelashes anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98594	"" []	3198469	\N	\N	EFO	5	EFO	disease	Rare eyebrow/eyelashes anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98594	"" []	3198470	\N	\N	EFO	5	EFO	disease	Rare eyebrow/eyelashes anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98594	"" []	4403787	\N	\N	EFO	6	EFO	disposition	Rare eyebrow/eyelashes anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98594	"" []	5419488	\N	\N	EFO	7	EFO	material property	Rare eyebrow/eyelashes anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98594	"" []	6153689	\N	\N	EFO	8	EFO	experimental factor	Rare eyebrow/eyelashes anomaly
Orphanet:98595	\N	\N	"" []	Orphanet:98595	"" []	78939	\N	\N	EFO	0	EFO	Eyebrow/eyelashes hypertrichosis	Eyebrow/eyelashes hypertrichosis
Orphanet:98594	Orphanet:98595	\N	"" []	Orphanet:98595	"" []	223915	\N	\N	EFO	1	EFO	Rare eyebrow/eyelashes anomaly	Eyebrow/eyelashes hypertrichosis
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:98595	"" []	580628	\N	\N	EFO	2	EFO	Rare palpebral disease	Eyebrow/eyelashes hypertrichosis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98595	"" []	1164548	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Eyebrow/eyelashes hypertrichosis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98595	"" []	2048419	\N	\N	EFO	4	EFO	Rare genetic eye disease	Eyebrow/eyelashes hypertrichosis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98595	"" []	3198471	\N	\N	EFO	5	EFO	genetic disorder	Eyebrow/eyelashes hypertrichosis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98595	"" []	3198472	\N	\N	EFO	5	EFO	eye disease	Eyebrow/eyelashes hypertrichosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98595	"" []	4403788	\N	\N	EFO	6	EFO	disease	Eyebrow/eyelashes hypertrichosis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98595	"" []	4403789	\N	\N	EFO	6	EFO	disease	Eyebrow/eyelashes hypertrichosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98595	"" []	5419489	\N	\N	EFO	7	EFO	disposition	Eyebrow/eyelashes hypertrichosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98595	"" []	6153690	\N	\N	EFO	8	EFO	material property	Eyebrow/eyelashes hypertrichosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98595	"" []	6634562	\N	\N	EFO	9	EFO	experimental factor	Eyebrow/eyelashes hypertrichosis
Orphanet:98596	\N	\N	"" []	Orphanet:98596	"" []	78940	\N	\N	EFO	0	EFO	Eyebrow hypertrophy	Eyebrow hypertrophy
Orphanet:98594	Orphanet:98596	\N	"" []	Orphanet:98596	"" []	223916	\N	\N	EFO	1	EFO	Rare eyebrow/eyelashes anomaly	Eyebrow hypertrophy
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:98596	"" []	580629	\N	\N	EFO	2	EFO	Rare palpebral disease	Eyebrow hypertrophy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98596	"" []	1164549	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Eyebrow hypertrophy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98596	"" []	2048420	\N	\N	EFO	4	EFO	Rare genetic eye disease	Eyebrow hypertrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98596	"" []	3198473	\N	\N	EFO	5	EFO	genetic disorder	Eyebrow hypertrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98596	"" []	3198474	\N	\N	EFO	5	EFO	eye disease	Eyebrow hypertrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98596	"" []	4403790	\N	\N	EFO	6	EFO	disease	Eyebrow hypertrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98596	"" []	4403791	\N	\N	EFO	6	EFO	disease	Eyebrow hypertrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98596	"" []	5419490	\N	\N	EFO	7	EFO	disposition	Eyebrow hypertrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98596	"" []	6153691	\N	\N	EFO	8	EFO	material property	Eyebrow hypertrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98596	"" []	6634563	\N	\N	EFO	9	EFO	experimental factor	Eyebrow hypertrophy
Orphanet:98597	\N	\N	"" []	Orphanet:98597	"" []	78941	\N	\N	EFO	0	EFO	Eyelashes hypertrophy	Eyelashes hypertrophy
Orphanet:98594	Orphanet:98597	\N	"" []	Orphanet:98597	"" []	223917	\N	\N	EFO	1	EFO	Rare eyebrow/eyelashes anomaly	Eyelashes hypertrophy
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:98597	"" []	580630	\N	\N	EFO	2	EFO	Rare palpebral disease	Eyelashes hypertrophy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98597	"" []	1164550	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Eyelashes hypertrophy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98597	"" []	2048421	\N	\N	EFO	4	EFO	Rare genetic eye disease	Eyelashes hypertrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98597	"" []	3198475	\N	\N	EFO	5	EFO	genetic disorder	Eyelashes hypertrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98597	"" []	3198476	\N	\N	EFO	5	EFO	eye disease	Eyelashes hypertrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98597	"" []	4403792	\N	\N	EFO	6	EFO	disease	Eyelashes hypertrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98597	"" []	4403793	\N	\N	EFO	6	EFO	disease	Eyelashes hypertrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98597	"" []	5419491	\N	\N	EFO	7	EFO	disposition	Eyelashes hypertrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98597	"" []	6153692	\N	\N	EFO	8	EFO	material property	Eyelashes hypertrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98597	"" []	6634564	\N	\N	EFO	9	EFO	experimental factor	Eyelashes hypertrophy
Orphanet:98598	\N	\N	"" []	Orphanet:98598	"" []	78942	\N	\N	EFO	0	EFO	Congenital absence of the eyebrow/eyelashes	Congenital absence of the eyebrow/eyelashes
Orphanet:98594	Orphanet:98598	\N	"" []	Orphanet:98598	"" []	223918	\N	\N	EFO	1	EFO	Rare eyebrow/eyelashes anomaly	Congenital absence of the eyebrow/eyelashes
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:98598	"" []	580631	\N	\N	EFO	2	EFO	Rare palpebral disease	Congenital absence of the eyebrow/eyelashes
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98598	"" []	1164551	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital absence of the eyebrow/eyelashes
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98598	"" []	2048422	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital absence of the eyebrow/eyelashes
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98598	"" []	3198477	\N	\N	EFO	5	EFO	genetic disorder	Congenital absence of the eyebrow/eyelashes
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98598	"" []	3198478	\N	\N	EFO	5	EFO	eye disease	Congenital absence of the eyebrow/eyelashes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98598	"" []	4403794	\N	\N	EFO	6	EFO	disease	Congenital absence of the eyebrow/eyelashes
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98598	"" []	4403795	\N	\N	EFO	6	EFO	disease	Congenital absence of the eyebrow/eyelashes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98598	"" []	5419492	\N	\N	EFO	7	EFO	disposition	Congenital absence of the eyebrow/eyelashes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98598	"" []	6153693	\N	\N	EFO	8	EFO	material property	Congenital absence of the eyebrow/eyelashes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98598	"" []	6634565	\N	\N	EFO	9	EFO	experimental factor	Congenital absence of the eyebrow/eyelashes
Orphanet:98599	\N	\N	"" []	Orphanet:98599	"" []	78943	\N	\N	EFO	0	EFO	Eyebrow/eyelashes structural anomaly	Eyebrow/eyelashes structural anomaly
Orphanet:98594	Orphanet:98599	\N	"" []	Orphanet:98599	"" []	223919	\N	\N	EFO	1	EFO	Rare eyebrow/eyelashes anomaly	Eyebrow/eyelashes structural anomaly
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:98599	"" []	580632	\N	\N	EFO	2	EFO	Rare palpebral disease	Eyebrow/eyelashes structural anomaly
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98599	"" []	1164552	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Eyebrow/eyelashes structural anomaly
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98599	"" []	2048423	\N	\N	EFO	4	EFO	Rare genetic eye disease	Eyebrow/eyelashes structural anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98599	"" []	3198479	\N	\N	EFO	5	EFO	genetic disorder	Eyebrow/eyelashes structural anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98599	"" []	3198480	\N	\N	EFO	5	EFO	eye disease	Eyebrow/eyelashes structural anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98599	"" []	4403796	\N	\N	EFO	6	EFO	disease	Eyebrow/eyelashes structural anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98599	"" []	4403797	\N	\N	EFO	6	EFO	disease	Eyebrow/eyelashes structural anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98599	"" []	5419493	\N	\N	EFO	7	EFO	disposition	Eyebrow/eyelashes structural anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98599	"" []	6153694	\N	\N	EFO	8	EFO	material property	Eyebrow/eyelashes structural anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98599	"" []	6634566	\N	\N	EFO	9	EFO	experimental factor	Eyebrow/eyelashes structural anomaly
Orphanet:98600	\N	\N	"" []	Orphanet:98600	"" []	78944	\N	\N	EFO	0	EFO	Eyebrow/eyelashes distichiasis	Eyebrow/eyelashes distichiasis
Orphanet:98594	Orphanet:98600	\N	"" []	Orphanet:98600	"" []	223920	\N	\N	EFO	1	EFO	Rare eyebrow/eyelashes anomaly	Eyebrow/eyelashes distichiasis
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:98600	"" []	580633	\N	\N	EFO	2	EFO	Rare palpebral disease	Eyebrow/eyelashes distichiasis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98600	"" []	1164553	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Eyebrow/eyelashes distichiasis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98600	"" []	2048424	\N	\N	EFO	4	EFO	Rare genetic eye disease	Eyebrow/eyelashes distichiasis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98600	"" []	3198481	\N	\N	EFO	5	EFO	genetic disorder	Eyebrow/eyelashes distichiasis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98600	"" []	3198482	\N	\N	EFO	5	EFO	eye disease	Eyebrow/eyelashes distichiasis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98600	"" []	4403798	\N	\N	EFO	6	EFO	disease	Eyebrow/eyelashes distichiasis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98600	"" []	4403799	\N	\N	EFO	6	EFO	disease	Eyebrow/eyelashes distichiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98600	"" []	5419494	\N	\N	EFO	7	EFO	disposition	Eyebrow/eyelashes distichiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98600	"" []	6153695	\N	\N	EFO	8	EFO	material property	Eyebrow/eyelashes distichiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98600	"" []	6634567	\N	\N	EFO	9	EFO	experimental factor	Eyebrow/eyelashes distichiasis
Orphanet:98601	\N	\N	"" []	Orphanet:98601	"" []	78945	\N	\N	EFO	0	EFO	Eyebrow/eyelashes pigmentation anomaly	Eyebrow/eyelashes pigmentation anomaly
Orphanet:98594	Orphanet:98601	\N	"" []	Orphanet:98601	"" []	223921	\N	\N	EFO	1	EFO	Rare eyebrow/eyelashes anomaly	Eyebrow/eyelashes pigmentation anomaly
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:98601	"" []	580634	\N	\N	EFO	2	EFO	Rare palpebral disease	Eyebrow/eyelashes pigmentation anomaly
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98601	"" []	1164554	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Eyebrow/eyelashes pigmentation anomaly
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98601	"" []	2048425	\N	\N	EFO	4	EFO	Rare genetic eye disease	Eyebrow/eyelashes pigmentation anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98601	"" []	3198483	\N	\N	EFO	5	EFO	genetic disorder	Eyebrow/eyelashes pigmentation anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98601	"" []	3198484	\N	\N	EFO	5	EFO	eye disease	Eyebrow/eyelashes pigmentation anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98601	"" []	4403800	\N	\N	EFO	6	EFO	disease	Eyebrow/eyelashes pigmentation anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98601	"" []	4403801	\N	\N	EFO	6	EFO	disease	Eyebrow/eyelashes pigmentation anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98601	"" []	5419495	\N	\N	EFO	7	EFO	disposition	Eyebrow/eyelashes pigmentation anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98601	"" []	6153696	\N	\N	EFO	8	EFO	material property	Eyebrow/eyelashes pigmentation anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98601	"" []	6634568	\N	\N	EFO	9	EFO	experimental factor	Eyebrow/eyelashes pigmentation anomaly
Orphanet:98602	\N	\N	"" []	Orphanet:98602	"" []	78946	\N	\N	EFO	0	EFO	Rare lacrimal system disease	Rare lacrimal system disease
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:98602	"" []	223922	\N	\N	EFO	1	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Rare lacrimal system disease
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98602	"" []	580635	\N	\N	EFO	2	EFO	Rare genetic eye disease	Rare lacrimal system disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98602	"" []	1164555	\N	\N	EFO	3	EFO	genetic disorder	Rare lacrimal system disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98602	"" []	1164556	\N	\N	EFO	3	EFO	eye disease	Rare lacrimal system disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98602	"" []	2048426	\N	\N	EFO	4	EFO	disease	Rare lacrimal system disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98602	"" []	2048427	\N	\N	EFO	4	EFO	disease	Rare lacrimal system disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98602	"" []	3198485	\N	\N	EFO	5	EFO	disposition	Rare lacrimal system disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98602	"" []	4403802	\N	\N	EFO	6	EFO	material property	Rare lacrimal system disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98602	"" []	5419496	\N	\N	EFO	7	EFO	experimental factor	Rare lacrimal system disease
Orphanet:98603	\N	\N	"" []	Orphanet:98603	"" []	78947	\N	\N	EFO	0	EFO	Secretory apparatus of the lacrimal system anomaly	Secretory apparatus of the lacrimal system anomaly
Orphanet:98602	Orphanet:98603	\N	"" []	Orphanet:98603	"" []	223923	\N	\N	EFO	1	EFO	Rare lacrimal system disease	Secretory apparatus of the lacrimal system anomaly
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:98603	"" []	580636	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Secretory apparatus of the lacrimal system anomaly
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98603	"" []	1164557	\N	\N	EFO	3	EFO	Rare genetic eye disease	Secretory apparatus of the lacrimal system anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98603	"" []	2048428	\N	\N	EFO	4	EFO	genetic disorder	Secretory apparatus of the lacrimal system anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98603	"" []	2048429	\N	\N	EFO	4	EFO	eye disease	Secretory apparatus of the lacrimal system anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98603	"" []	3198486	\N	\N	EFO	5	EFO	disease	Secretory apparatus of the lacrimal system anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98603	"" []	3198487	\N	\N	EFO	5	EFO	disease	Secretory apparatus of the lacrimal system anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98603	"" []	4403803	\N	\N	EFO	6	EFO	disposition	Secretory apparatus of the lacrimal system anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98603	"" []	5419497	\N	\N	EFO	7	EFO	material property	Secretory apparatus of the lacrimal system anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98603	"" []	6153697	\N	\N	EFO	8	EFO	experimental factor	Secretory apparatus of the lacrimal system anomaly
Orphanet:98604	\N	\N	"" []	Orphanet:98604	"" []	78948	\N	\N	EFO	0	EFO	Congenital alacrima	Congenital alacrima
Orphanet:98603	Orphanet:98604	\N	"" []	Orphanet:98604	"" []	223924	\N	\N	EFO	1	EFO	Secretory apparatus of the lacrimal system anomaly	Congenital alacrima
Orphanet:98602	Orphanet:98603	\N	"" []	Orphanet:98604	"" []	580637	\N	\N	EFO	2	EFO	Rare lacrimal system disease	Congenital alacrima
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:98604	"" []	1164558	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital alacrima
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98604	"" []	2048430	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital alacrima
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98604	"" []	3198488	\N	\N	EFO	5	EFO	genetic disorder	Congenital alacrima
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98604	"" []	3198489	\N	\N	EFO	5	EFO	eye disease	Congenital alacrima
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98604	"" []	4403804	\N	\N	EFO	6	EFO	disease	Congenital alacrima
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98604	"" []	4403805	\N	\N	EFO	6	EFO	disease	Congenital alacrima
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98604	"" []	5419498	\N	\N	EFO	7	EFO	disposition	Congenital alacrima
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98604	"" []	6153698	\N	\N	EFO	8	EFO	material property	Congenital alacrima
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98604	"" []	6634569	\N	\N	EFO	9	EFO	experimental factor	Congenital alacrima
Orphanet:98605	\N	\N	"" []	Orphanet:98605	"" []	78949	\N	\N	EFO	0	EFO	Excretory apparatus of the lacrimal system anomaly	Excretory apparatus of the lacrimal system anomaly
Orphanet:98602	Orphanet:98605	\N	"" []	Orphanet:98605	"" []	223925	\N	\N	EFO	1	EFO	Rare lacrimal system disease	Excretory apparatus of the lacrimal system anomaly
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:98605	"" []	580638	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Excretory apparatus of the lacrimal system anomaly
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98605	"" []	1164559	\N	\N	EFO	3	EFO	Rare genetic eye disease	Excretory apparatus of the lacrimal system anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98605	"" []	2048431	\N	\N	EFO	4	EFO	genetic disorder	Excretory apparatus of the lacrimal system anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98605	"" []	2048432	\N	\N	EFO	4	EFO	eye disease	Excretory apparatus of the lacrimal system anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98605	"" []	3198490	\N	\N	EFO	5	EFO	disease	Excretory apparatus of the lacrimal system anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98605	"" []	3198491	\N	\N	EFO	5	EFO	disease	Excretory apparatus of the lacrimal system anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98605	"" []	4403806	\N	\N	EFO	6	EFO	disposition	Excretory apparatus of the lacrimal system anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98605	"" []	5419499	\N	\N	EFO	7	EFO	material property	Excretory apparatus of the lacrimal system anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98605	"" []	6153699	\N	\N	EFO	8	EFO	experimental factor	Excretory apparatus of the lacrimal system anomaly
Orphanet:98606	\N	\N	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	Orphanet:98606	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	78950	\N	\N	EFO	0	EFO	Syndromic orbital border hypoplasia	Syndromic orbital border hypoplasia
Orphanet:98605	Orphanet:98606	\N	"" []	Orphanet:98606	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	223926	\N	\N	EFO	1	EFO	Excretory apparatus of the lacrimal system anomaly	Syndromic orbital border hypoplasia
Orphanet:98602	Orphanet:98605	\N	"" []	Orphanet:98606	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	580639	\N	\N	EFO	2	EFO	Rare lacrimal system disease	Syndromic orbital border hypoplasia
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:98606	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	1164560	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Syndromic orbital border hypoplasia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98606	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	2048433	\N	\N	EFO	4	EFO	Rare genetic eye disease	Syndromic orbital border hypoplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98606	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	3198492	\N	\N	EFO	5	EFO	genetic disorder	Syndromic orbital border hypoplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98606	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	3198493	\N	\N	EFO	5	EFO	eye disease	Syndromic orbital border hypoplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98606	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	4403807	\N	\N	EFO	6	EFO	disease	Syndromic orbital border hypoplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98606	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	4403808	\N	\N	EFO	6	EFO	disease	Syndromic orbital border hypoplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98606	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	5419500	\N	\N	EFO	7	EFO	disposition	Syndromic orbital border hypoplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98606	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	6153700	\N	\N	EFO	8	EFO	material property	Syndromic orbital border hypoplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98606	"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." []	6634570	\N	\N	EFO	9	EFO	experimental factor	Syndromic orbital border hypoplasia
Orphanet:98608	\N	\N	"" []	Orphanet:98608	"" []	78951	\N	\N	EFO	0	EFO	Anomaly of the secretory and excretory apparatus of the lacrimal system	Anomaly of the secretory and excretory apparatus of the lacrimal system
Orphanet:98602	Orphanet:98608	\N	"" []	Orphanet:98608	"" []	223927	\N	\N	EFO	1	EFO	Rare lacrimal system disease	Anomaly of the secretory and excretory apparatus of the lacrimal system
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:98608	"" []	580640	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Anomaly of the secretory and excretory apparatus of the lacrimal system
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98608	"" []	1164561	\N	\N	EFO	3	EFO	Rare genetic eye disease	Anomaly of the secretory and excretory apparatus of the lacrimal system
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98608	"" []	2048434	\N	\N	EFO	4	EFO	genetic disorder	Anomaly of the secretory and excretory apparatus of the lacrimal system
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98608	"" []	2048435	\N	\N	EFO	4	EFO	eye disease	Anomaly of the secretory and excretory apparatus of the lacrimal system
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98608	"" []	3198494	\N	\N	EFO	5	EFO	disease	Anomaly of the secretory and excretory apparatus of the lacrimal system
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98608	"" []	3198495	\N	\N	EFO	5	EFO	disease	Anomaly of the secretory and excretory apparatus of the lacrimal system
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98608	"" []	4403809	\N	\N	EFO	6	EFO	disposition	Anomaly of the secretory and excretory apparatus of the lacrimal system
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98608	"" []	5419501	\N	\N	EFO	7	EFO	material property	Anomaly of the secretory and excretory apparatus of the lacrimal system
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98608	"" []	6153701	\N	\N	EFO	8	EFO	experimental factor	Anomaly of the secretory and excretory apparatus of the lacrimal system
Orphanet:98609	\N	\N	"" []	Orphanet:98609	"" []	78952	\N	\N	EFO	0	EFO	EEC syndrome and related syndrome	EEC syndrome and related syndrome
Orphanet:79373	Orphanet:98609	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:98609	"" []	223928	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	EEC syndrome and related syndrome
Orphanet:98608	Orphanet:98609	\N	"" []	Orphanet:98609	"" []	223929	\N	\N	EFO	1	EFO	Anomaly of the secretory and excretory apparatus of the lacrimal system	EEC syndrome and related syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:98609	"" []	580641	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	EEC syndrome and related syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:98609	"" []	580642	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	EEC syndrome and related syndrome
Orphanet:98602	Orphanet:98608	\N	"" []	Orphanet:98609	"" []	580643	\N	\N	EFO	2	EFO	Rare lacrimal system disease	EEC syndrome and related syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:98609	"" []	1164562	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	EEC syndrome and related syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:98609	"" []	1164563	\N	\N	EFO	3	EFO	Rare genetic skin disease	EEC syndrome and related syndrome
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:98609	"" []	1164564	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	EEC syndrome and related syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98609	"" []	2048436	\N	\N	EFO	4	EFO	genetic disorder	EEC syndrome and related syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98609	"" []	2048437	\N	\N	EFO	4	EFO	genetic disorder	EEC syndrome and related syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98609	"" []	2048438	\N	\N	EFO	4	EFO	skin disease	EEC syndrome and related syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98609	"" []	2048439	\N	\N	EFO	4	EFO	Rare genetic eye disease	EEC syndrome and related syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98609	"" []	4403811	\N	\N	EFO	6	EFO	disease	EEC syndrome and related syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98609	"" []	3198497	\N	\N	EFO	5	EFO	disease	EEC syndrome and related syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98609	"" []	3198498	\N	\N	EFO	5	EFO	genetic disorder	EEC syndrome and related syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98609	"" []	3198499	\N	\N	EFO	5	EFO	eye disease	EEC syndrome and related syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98609	"" []	5183739	\N	\N	EFO	7	EFO	disposition	EEC syndrome and related syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98609	"" []	4403812	\N	\N	EFO	6	EFO	disease	EEC syndrome and related syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98609	"" []	5999059	\N	\N	EFO	8	EFO	material property	EEC syndrome and related syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98609	"" []	6552031	\N	\N	EFO	9	EFO	experimental factor	EEC syndrome and related syndrome
Orphanet:98610	\N	\N	"" []	Orphanet:98610	"" []	78953	\N	\N	EFO	0	EFO	Rare conjunctival disease	Rare conjunctival disease
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:98610	"" []	223930	\N	\N	EFO	1	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Rare conjunctival disease
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98610	"" []	580644	\N	\N	EFO	2	EFO	Rare genetic eye disease	Rare conjunctival disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98610	"" []	1164565	\N	\N	EFO	3	EFO	genetic disorder	Rare conjunctival disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98610	"" []	1164566	\N	\N	EFO	3	EFO	eye disease	Rare conjunctival disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98610	"" []	2048440	\N	\N	EFO	4	EFO	disease	Rare conjunctival disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98610	"" []	2048441	\N	\N	EFO	4	EFO	disease	Rare conjunctival disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98610	"" []	3198500	\N	\N	EFO	5	EFO	disposition	Rare conjunctival disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98610	"" []	4403813	\N	\N	EFO	6	EFO	material property	Rare conjunctival disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98610	"" []	5419503	\N	\N	EFO	7	EFO	experimental factor	Rare conjunctival disease
Orphanet:98611	\N	\N	"" []	Orphanet:98611	"" []	78954	\N	\N	EFO	0	EFO	Conjunctival vascular anomaly	Conjunctival vascular anomaly
Orphanet:98610	Orphanet:98611	\N	"" []	Orphanet:98611	"" []	223931	\N	\N	EFO	1	EFO	Rare conjunctival disease	Conjunctival vascular anomaly
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:98611	"" []	580645	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Conjunctival vascular anomaly
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98611	"" []	1164567	\N	\N	EFO	3	EFO	Rare genetic eye disease	Conjunctival vascular anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98611	"" []	2048442	\N	\N	EFO	4	EFO	genetic disorder	Conjunctival vascular anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98611	"" []	2048443	\N	\N	EFO	4	EFO	eye disease	Conjunctival vascular anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98611	"" []	3198501	\N	\N	EFO	5	EFO	disease	Conjunctival vascular anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98611	"" []	3198502	\N	\N	EFO	5	EFO	disease	Conjunctival vascular anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98611	"" []	4403814	\N	\N	EFO	6	EFO	disposition	Conjunctival vascular anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98611	"" []	5419504	\N	\N	EFO	7	EFO	material property	Conjunctival vascular anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98611	"" []	6153703	\N	\N	EFO	8	EFO	experimental factor	Conjunctival vascular anomaly
Orphanet:98612	\N	\N	"" []	Orphanet:98612	"" []	78955	\N	\N	EFO	0	EFO	Conjunctival hemangioma or hemolymphangioma	Conjunctival hemangioma or hemolymphangioma
Orphanet:98611	Orphanet:98612	\N	"" []	Orphanet:98612	"" []	223932	\N	\N	EFO	1	EFO	Conjunctival vascular anomaly	Conjunctival hemangioma or hemolymphangioma
Orphanet:98610	Orphanet:98611	\N	"" []	Orphanet:98612	"" []	580646	\N	\N	EFO	2	EFO	Rare conjunctival disease	Conjunctival hemangioma or hemolymphangioma
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:98612	"" []	1164568	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Conjunctival hemangioma or hemolymphangioma
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98612	"" []	2048444	\N	\N	EFO	4	EFO	Rare genetic eye disease	Conjunctival hemangioma or hemolymphangioma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98612	"" []	3198503	\N	\N	EFO	5	EFO	genetic disorder	Conjunctival hemangioma or hemolymphangioma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98612	"" []	3198504	\N	\N	EFO	5	EFO	eye disease	Conjunctival hemangioma or hemolymphangioma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98612	"" []	4403815	\N	\N	EFO	6	EFO	disease	Conjunctival hemangioma or hemolymphangioma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98612	"" []	4403816	\N	\N	EFO	6	EFO	disease	Conjunctival hemangioma or hemolymphangioma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98612	"" []	5419505	\N	\N	EFO	7	EFO	disposition	Conjunctival hemangioma or hemolymphangioma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98612	"" []	6153704	\N	\N	EFO	8	EFO	material property	Conjunctival hemangioma or hemolymphangioma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98612	"" []	6634571	\N	\N	EFO	9	EFO	experimental factor	Conjunctival hemangioma or hemolymphangioma
Orphanet:98613	\N	\N	"" []	Orphanet:98613	"" []	78956	\N	\N	EFO	0	EFO	Conjunctival telangiectasia	Conjunctival telangiectasia
Orphanet:98611	Orphanet:98613	\N	"" []	Orphanet:98613	"" []	223933	\N	\N	EFO	1	EFO	Conjunctival vascular anomaly	Conjunctival telangiectasia
Orphanet:98610	Orphanet:98611	\N	"" []	Orphanet:98613	"" []	580647	\N	\N	EFO	2	EFO	Rare conjunctival disease	Conjunctival telangiectasia
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:98613	"" []	1164569	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Conjunctival telangiectasia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98613	"" []	2048445	\N	\N	EFO	4	EFO	Rare genetic eye disease	Conjunctival telangiectasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98613	"" []	3198505	\N	\N	EFO	5	EFO	genetic disorder	Conjunctival telangiectasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98613	"" []	3198506	\N	\N	EFO	5	EFO	eye disease	Conjunctival telangiectasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98613	"" []	4403817	\N	\N	EFO	6	EFO	disease	Conjunctival telangiectasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98613	"" []	4403818	\N	\N	EFO	6	EFO	disease	Conjunctival telangiectasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98613	"" []	5419506	\N	\N	EFO	7	EFO	disposition	Conjunctival telangiectasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98613	"" []	6153705	\N	\N	EFO	8	EFO	material property	Conjunctival telangiectasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98613	"" []	6634572	\N	\N	EFO	9	EFO	experimental factor	Conjunctival telangiectasia
Orphanet:98614	\N	\N	"" []	Orphanet:98614	"" []	78957	\N	\N	EFO	0	EFO	Conjunctival lymphangiectasia	Conjunctival lymphangiectasia
Orphanet:98611	Orphanet:98614	\N	"" []	Orphanet:98614	"" []	223934	\N	\N	EFO	1	EFO	Conjunctival vascular anomaly	Conjunctival lymphangiectasia
Orphanet:98610	Orphanet:98611	\N	"" []	Orphanet:98614	"" []	580648	\N	\N	EFO	2	EFO	Rare conjunctival disease	Conjunctival lymphangiectasia
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:98614	"" []	1164570	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Conjunctival lymphangiectasia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98614	"" []	2048446	\N	\N	EFO	4	EFO	Rare genetic eye disease	Conjunctival lymphangiectasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98614	"" []	3198507	\N	\N	EFO	5	EFO	genetic disorder	Conjunctival lymphangiectasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98614	"" []	3198508	\N	\N	EFO	5	EFO	eye disease	Conjunctival lymphangiectasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98614	"" []	4403819	\N	\N	EFO	6	EFO	disease	Conjunctival lymphangiectasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98614	"" []	4403820	\N	\N	EFO	6	EFO	disease	Conjunctival lymphangiectasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98614	"" []	5419507	\N	\N	EFO	7	EFO	disposition	Conjunctival lymphangiectasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98614	"" []	6153706	\N	\N	EFO	8	EFO	material property	Conjunctival lymphangiectasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98614	"" []	6634573	\N	\N	EFO	9	EFO	experimental factor	Conjunctival lymphangiectasia
Orphanet:98615	\N	\N	"" []	Orphanet:98615	"" []	78958	\N	\N	EFO	0	EFO	Pigmented conjunctival lesion	Pigmented conjunctival lesion
Orphanet:98610	Orphanet:98615	\N	"" []	Orphanet:98615	"" []	223935	\N	\N	EFO	1	EFO	Rare conjunctival disease	Pigmented conjunctival lesion
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:98615	"" []	580649	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Pigmented conjunctival lesion
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98615	"" []	1164571	\N	\N	EFO	3	EFO	Rare genetic eye disease	Pigmented conjunctival lesion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98615	"" []	2048447	\N	\N	EFO	4	EFO	genetic disorder	Pigmented conjunctival lesion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98615	"" []	2048448	\N	\N	EFO	4	EFO	eye disease	Pigmented conjunctival lesion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98615	"" []	3198509	\N	\N	EFO	5	EFO	disease	Pigmented conjunctival lesion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98615	"" []	3198510	\N	\N	EFO	5	EFO	disease	Pigmented conjunctival lesion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98615	"" []	4403821	\N	\N	EFO	6	EFO	disposition	Pigmented conjunctival lesion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98615	"" []	5419508	\N	\N	EFO	7	EFO	material property	Pigmented conjunctival lesion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98615	"" []	6153707	\N	\N	EFO	8	EFO	experimental factor	Pigmented conjunctival lesion
Orphanet:98616	\N	\N	"" []	Orphanet:98616	"" []	78959	\N	\N	EFO	0	EFO	Conjunctival tumor	Conjunctival tumor
Orphanet:98610	Orphanet:98616	\N	"" []	Orphanet:98616	"" []	223936	\N	\N	EFO	1	EFO	Rare conjunctival disease	Conjunctival tumor
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:98616	"" []	580650	\N	\N	EFO	2	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Conjunctival tumor
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98616	"" []	1164572	\N	\N	EFO	3	EFO	Rare genetic eye disease	Conjunctival tumor
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98616	"" []	2048449	\N	\N	EFO	4	EFO	genetic disorder	Conjunctival tumor
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98616	"" []	2048450	\N	\N	EFO	4	EFO	eye disease	Conjunctival tumor
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98616	"" []	3198511	\N	\N	EFO	5	EFO	disease	Conjunctival tumor
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98616	"" []	3198512	\N	\N	EFO	5	EFO	disease	Conjunctival tumor
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98616	"" []	4403822	\N	\N	EFO	6	EFO	disposition	Conjunctival tumor
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98616	"" []	5419509	\N	\N	EFO	7	EFO	material property	Conjunctival tumor
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98616	"" []	6153708	\N	\N	EFO	8	EFO	experimental factor	Conjunctival tumor
Orphanet:98617	\N	\N	"" []	Orphanet:98617	"" []	78960	\N	\N	EFO	0	EFO	Bulbar conjunctival dermoid or conjunctival dermolipoma	Bulbar conjunctival dermoid or conjunctival dermolipoma
Orphanet:98616	Orphanet:98617	\N	"" []	Orphanet:98617	"" []	223937	\N	\N	EFO	1	EFO	Conjunctival tumor	Bulbar conjunctival dermoid or conjunctival dermolipoma
Orphanet:98610	Orphanet:98616	\N	"" []	Orphanet:98617	"" []	580651	\N	\N	EFO	2	EFO	Rare conjunctival disease	Bulbar conjunctival dermoid or conjunctival dermolipoma
Orphanet:183598	Orphanet:98610	\N	"" []	Orphanet:98617	"" []	1164573	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Bulbar conjunctival dermoid or conjunctival dermolipoma
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98617	"" []	2048451	\N	\N	EFO	4	EFO	Rare genetic eye disease	Bulbar conjunctival dermoid or conjunctival dermolipoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98617	"" []	3198513	\N	\N	EFO	5	EFO	genetic disorder	Bulbar conjunctival dermoid or conjunctival dermolipoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98617	"" []	3198514	\N	\N	EFO	5	EFO	eye disease	Bulbar conjunctival dermoid or conjunctival dermolipoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98617	"" []	4403823	\N	\N	EFO	6	EFO	disease	Bulbar conjunctival dermoid or conjunctival dermolipoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98617	"" []	4403824	\N	\N	EFO	6	EFO	disease	Bulbar conjunctival dermoid or conjunctival dermolipoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98617	"" []	5419510	\N	\N	EFO	7	EFO	disposition	Bulbar conjunctival dermoid or conjunctival dermolipoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98617	"" []	6153709	\N	\N	EFO	8	EFO	material property	Bulbar conjunctival dermoid or conjunctival dermolipoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98617	"" []	6634574	\N	\N	EFO	9	EFO	experimental factor	Bulbar conjunctival dermoid or conjunctival dermolipoma
Orphanet:98619	\N	\N	"" []	Orphanet:98619	"" []	78961	\N	\N	EFO	0	EFO	Rare isolated myopia	Rare isolated myopia
Orphanet:183601	Orphanet:98619	\N	"" []	Orphanet:98619	"" []	223938	\N	\N	EFO	1	EFO	Rare genetic refraction anomaly	Rare isolated myopia
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:98619	"" []	580652	\N	\N	EFO	2	EFO	Rare genetic eye disease	Rare isolated myopia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98619	"" []	1164574	\N	\N	EFO	3	EFO	genetic disorder	Rare isolated myopia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98619	"" []	1164575	\N	\N	EFO	3	EFO	eye disease	Rare isolated myopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98619	"" []	2048452	\N	\N	EFO	4	EFO	disease	Rare isolated myopia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98619	"" []	2048453	\N	\N	EFO	4	EFO	disease	Rare isolated myopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98619	"" []	3198515	\N	\N	EFO	5	EFO	disposition	Rare isolated myopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98619	"" []	4403825	\N	\N	EFO	6	EFO	material property	Rare isolated myopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98619	"" []	5419511	\N	\N	EFO	7	EFO	experimental factor	Rare isolated myopia
Orphanet:98620	\N	\N	"" []	Orphanet:98620	"" []	78962	\N	\N	EFO	0	EFO	Syndromic myopia	Syndromic myopia
Orphanet:183601	Orphanet:98620	\N	"" []	Orphanet:98620	"" []	223939	\N	\N	EFO	1	EFO	Rare genetic refraction anomaly	Syndromic myopia
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:98620	"" []	580653	\N	\N	EFO	2	EFO	Rare genetic eye disease	Syndromic myopia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98620	"" []	1164576	\N	\N	EFO	3	EFO	genetic disorder	Syndromic myopia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98620	"" []	1164577	\N	\N	EFO	3	EFO	eye disease	Syndromic myopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98620	"" []	2048454	\N	\N	EFO	4	EFO	disease	Syndromic myopia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98620	"" []	2048455	\N	\N	EFO	4	EFO	disease	Syndromic myopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98620	"" []	3198516	\N	\N	EFO	5	EFO	disposition	Syndromic myopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98620	"" []	4403826	\N	\N	EFO	6	EFO	material property	Syndromic myopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98620	"" []	5419512	\N	\N	EFO	7	EFO	experimental factor	Syndromic myopia
Orphanet:98621	\N	\N	"" []	Orphanet:98621	"" []	78963	\N	\N	EFO	0	EFO	Rare hyperopia and astigmatism	Rare hyperopia and astigmatism
Orphanet:183601	Orphanet:98621	\N	"" []	Orphanet:98621	"" []	223940	\N	\N	EFO	1	EFO	Rare genetic refraction anomaly	Rare hyperopia and astigmatism
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:98621	"" []	580654	\N	\N	EFO	2	EFO	Rare genetic eye disease	Rare hyperopia and astigmatism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98621	"" []	1164578	\N	\N	EFO	3	EFO	genetic disorder	Rare hyperopia and astigmatism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98621	"" []	1164579	\N	\N	EFO	3	EFO	eye disease	Rare hyperopia and astigmatism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98621	"" []	2048456	\N	\N	EFO	4	EFO	disease	Rare hyperopia and astigmatism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98621	"" []	2048457	\N	\N	EFO	4	EFO	disease	Rare hyperopia and astigmatism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98621	"" []	3198517	\N	\N	EFO	5	EFO	disposition	Rare hyperopia and astigmatism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98621	"" []	4403827	\N	\N	EFO	6	EFO	material property	Rare hyperopia and astigmatism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98621	"" []	5419513	\N	\N	EFO	7	EFO	experimental factor	Rare hyperopia and astigmatism
Orphanet:98622	\N	\N	"" []	Orphanet:98622	"" []	78964	\N	\N	EFO	0	EFO	Syndromic hyperopia	Syndromic hyperopia
Orphanet:98621	Orphanet:98622	\N	"" []	Orphanet:98622	"" []	223941	\N	\N	EFO	1	EFO	Rare hyperopia and astigmatism	Syndromic hyperopia
Orphanet:183601	Orphanet:98621	\N	"" []	Orphanet:98622	"" []	580655	\N	\N	EFO	2	EFO	Rare genetic refraction anomaly	Syndromic hyperopia
Orphanet:101435	Orphanet:183601	\N	"" []	Orphanet:98622	"" []	1164580	\N	\N	EFO	3	EFO	Rare genetic eye disease	Syndromic hyperopia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98622	"" []	2048458	\N	\N	EFO	4	EFO	genetic disorder	Syndromic hyperopia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98622	"" []	2048459	\N	\N	EFO	4	EFO	eye disease	Syndromic hyperopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98622	"" []	3198518	\N	\N	EFO	5	EFO	disease	Syndromic hyperopia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98622	"" []	3198519	\N	\N	EFO	5	EFO	disease	Syndromic hyperopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98622	"" []	4403828	\N	\N	EFO	6	EFO	disposition	Syndromic hyperopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98622	"" []	5419514	\N	\N	EFO	7	EFO	material property	Syndromic hyperopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98622	"" []	6153710	\N	\N	EFO	8	EFO	experimental factor	Syndromic hyperopia
Orphanet:98623	\N	\N	"" []	Orphanet:98623	"" []	78965	\N	\N	EFO	0	EFO	Syndromic keratoconus	Syndromic keratoconus
Orphanet:156071	Orphanet:98623	\N	"" []	Orphanet:98623	"" []	223942	\N	\N	EFO	1	EFO	Keratoconus	Syndromic keratoconus
Orphanet:101435	Orphanet:156071	\N	"" []	Orphanet:98623	"" []	580656	\N	\N	EFO	2	EFO	Rare genetic eye disease	Syndromic keratoconus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98623	"" []	1164581	\N	\N	EFO	3	EFO	genetic disorder	Syndromic keratoconus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98623	"" []	1164582	\N	\N	EFO	3	EFO	eye disease	Syndromic keratoconus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98623	"" []	2048460	\N	\N	EFO	4	EFO	disease	Syndromic keratoconus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98623	"" []	2048461	\N	\N	EFO	4	EFO	disease	Syndromic keratoconus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98623	"" []	3198520	\N	\N	EFO	5	EFO	disposition	Syndromic keratoconus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98623	"" []	4403829	\N	\N	EFO	6	EFO	material property	Syndromic keratoconus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98623	"" []	5419515	\N	\N	EFO	7	EFO	experimental factor	Syndromic keratoconus
Orphanet:98625	\N	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98625	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	78966	\N	\N	EFO	0	EFO	Superficial corneal dystrophy	Superficial corneal dystrophy
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98625	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	223943	\N	\N	EFO	1	EFO	Corneal dystrophy	Superficial corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98625	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	580657	\N	\N	EFO	2	EFO	Rare genetic eye disease	Superficial corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98625	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	1164583	\N	\N	EFO	3	EFO	genetic disorder	Superficial corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98625	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	1164584	\N	\N	EFO	3	EFO	eye disease	Superficial corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98625	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	2048462	\N	\N	EFO	4	EFO	disease	Superficial corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98625	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	2048463	\N	\N	EFO	4	EFO	disease	Superficial corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98625	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	3198521	\N	\N	EFO	5	EFO	disposition	Superficial corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98625	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	4403830	\N	\N	EFO	6	EFO	material property	Superficial corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98625	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	5419516	\N	\N	EFO	7	EFO	experimental factor	Superficial corneal dystrophy
Orphanet:98626	\N	\N	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98626	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	78967	\N	\N	EFO	0	EFO	Stromal corneal dystrophy	Stromal corneal dystrophy
Orphanet:34533	Orphanet:98626	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98626	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	223944	\N	\N	EFO	1	EFO	Corneal dystrophy	Stromal corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98626	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	580658	\N	\N	EFO	2	EFO	Rare genetic eye disease	Stromal corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98626	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	1164585	\N	\N	EFO	3	EFO	genetic disorder	Stromal corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98626	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	1164586	\N	\N	EFO	3	EFO	eye disease	Stromal corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98626	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	2048464	\N	\N	EFO	4	EFO	disease	Stromal corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98626	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	2048465	\N	\N	EFO	4	EFO	disease	Stromal corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98626	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	3198522	\N	\N	EFO	5	EFO	disposition	Stromal corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98626	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	4403831	\N	\N	EFO	6	EFO	material property	Stromal corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98626	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	5419517	\N	\N	EFO	7	EFO	experimental factor	Stromal corneal dystrophy
Orphanet:98627	\N	\N	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98627	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	78968	\N	\N	EFO	0	EFO	Posterior corneal dystrophy	Posterior corneal dystrophy
Orphanet:34533	Orphanet:98627	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98627	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	223945	\N	\N	EFO	1	EFO	Corneal dystrophy	Posterior corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98627	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	580659	\N	\N	EFO	2	EFO	Rare genetic eye disease	Posterior corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98627	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	1164587	\N	\N	EFO	3	EFO	genetic disorder	Posterior corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98627	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	1164588	\N	\N	EFO	3	EFO	eye disease	Posterior corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98627	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	2048466	\N	\N	EFO	4	EFO	disease	Posterior corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98627	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	2048467	\N	\N	EFO	4	EFO	disease	Posterior corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98627	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	3198523	\N	\N	EFO	5	EFO	disposition	Posterior corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98627	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	4403832	\N	\N	EFO	6	EFO	material property	Posterior corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98627	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	5419518	\N	\N	EFO	7	EFO	experimental factor	Posterior corneal dystrophy
Orphanet:98628	\N	\N	"" []	Orphanet:98628	"" []	78969	\N	\N	EFO	0	EFO	Syndromic corneal dystrophy	Syndromic corneal dystrophy
Orphanet:34533	Orphanet:98628	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98628	"" []	223946	\N	\N	EFO	1	EFO	Corneal dystrophy	Syndromic corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98628	"" []	580660	\N	\N	EFO	2	EFO	Rare genetic eye disease	Syndromic corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98628	"" []	1164589	\N	\N	EFO	3	EFO	genetic disorder	Syndromic corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98628	"" []	1164590	\N	\N	EFO	3	EFO	eye disease	Syndromic corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98628	"" []	2048468	\N	\N	EFO	4	EFO	disease	Syndromic corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98628	"" []	2048469	\N	\N	EFO	4	EFO	disease	Syndromic corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98628	"" []	3198524	\N	\N	EFO	5	EFO	disposition	Syndromic corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98628	"" []	4403833	\N	\N	EFO	6	EFO	material property	Syndromic corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98628	"" []	5419519	\N	\N	EFO	7	EFO	experimental factor	Syndromic corneal dystrophy
Orphanet:98631	\N	\N	"" []	Orphanet:98631	"" []	78970	\N	\N	EFO	0	EFO	Secondary dysgenetic glaucoma	Secondary dysgenetic glaucoma
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98631	"" []	223947	\N	\N	EFO	1	EFO	Hereditary glaucoma	Secondary dysgenetic glaucoma
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98631	"" []	580661	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Secondary dysgenetic glaucoma
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98631	"" []	1164591	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Secondary dysgenetic glaucoma
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98631	"" []	2048470	\N	\N	EFO	4	EFO	Rare genetic eye disease	Secondary dysgenetic glaucoma
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98631	"" []	2048471	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Secondary dysgenetic glaucoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98631	"" []	3198525	\N	\N	EFO	5	EFO	genetic disorder	Secondary dysgenetic glaucoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98631	"" []	3198526	\N	\N	EFO	5	EFO	eye disease	Secondary dysgenetic glaucoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98631	"" []	3198527	\N	\N	EFO	5	EFO	genetic disorder	Secondary dysgenetic glaucoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98631	"" []	4403834	\N	\N	EFO	6	EFO	disease	Secondary dysgenetic glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98631	"" []	4403835	\N	\N	EFO	6	EFO	disease	Secondary dysgenetic glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98631	"" []	5419520	\N	\N	EFO	7	EFO	disposition	Secondary dysgenetic glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98631	"" []	6153711	\N	\N	EFO	8	EFO	material property	Secondary dysgenetic glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98631	"" []	6634575	\N	\N	EFO	9	EFO	experimental factor	Secondary dysgenetic glaucoma
Orphanet:98632	\N	\N	"" []	Orphanet:98632	"" []	78971	\N	\N	EFO	0	EFO	Glaucoma associated with neural crest cell migration anomaly	Glaucoma associated with neural crest cell migration anomaly
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:98632	"" []	223948	\N	\N	EFO	1	EFO	Secondary dysgenetic glaucoma	Glaucoma associated with neural crest cell migration anomaly
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98632	"" []	580662	\N	\N	EFO	2	EFO	Hereditary glaucoma	Glaucoma associated with neural crest cell migration anomaly
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98632	"" []	1164592	\N	\N	EFO	3	EFO	Non-syndromic developmental defect of the eye	Glaucoma associated with neural crest cell migration anomaly
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98632	"" []	2048472	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Glaucoma associated with neural crest cell migration anomaly
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98632	"" []	3198528	\N	\N	EFO	5	EFO	Rare genetic eye disease	Glaucoma associated with neural crest cell migration anomaly
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98632	"" []	3198529	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Glaucoma associated with neural crest cell migration anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98632	"" []	4403836	\N	\N	EFO	6	EFO	genetic disorder	Glaucoma associated with neural crest cell migration anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98632	"" []	4403837	\N	\N	EFO	6	EFO	eye disease	Glaucoma associated with neural crest cell migration anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98632	"" []	4403838	\N	\N	EFO	6	EFO	genetic disorder	Glaucoma associated with neural crest cell migration anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98632	"" []	5419521	\N	\N	EFO	7	EFO	disease	Glaucoma associated with neural crest cell migration anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98632	"" []	5419522	\N	\N	EFO	7	EFO	disease	Glaucoma associated with neural crest cell migration anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98632	"" []	6153712	\N	\N	EFO	8	EFO	disposition	Glaucoma associated with neural crest cell migration anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98632	"" []	6634576	\N	\N	EFO	9	EFO	material property	Glaucoma associated with neural crest cell migration anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98632	"" []	6926395	\N	\N	EFO	10	EFO	experimental factor	Glaucoma associated with neural crest cell migration anomaly
Orphanet:98633	\N	\N	"" []	Orphanet:98633	"" []	78972	\N	\N	EFO	0	EFO	Goniodysgenesis	Goniodysgenesis
Orphanet:98632	Orphanet:98633	\N	"" []	Orphanet:98633	"" []	223949	\N	\N	EFO	1	EFO	Glaucoma associated with neural crest cell migration anomaly	Goniodysgenesis
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:98633	"" []	580663	\N	\N	EFO	2	EFO	Secondary dysgenetic glaucoma	Goniodysgenesis
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98633	"" []	1164593	\N	\N	EFO	3	EFO	Hereditary glaucoma	Goniodysgenesis
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98633	"" []	2048473	\N	\N	EFO	4	EFO	Non-syndromic developmental defect of the eye	Goniodysgenesis
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98633	"" []	3198530	\N	\N	EFO	5	EFO	Genetic developmental defect of the eye	Goniodysgenesis
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98633	"" []	4403839	\N	\N	EFO	6	EFO	Rare genetic eye disease	Goniodysgenesis
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98633	"" []	4403840	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Goniodysgenesis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98633	"" []	5419523	\N	\N	EFO	7	EFO	genetic disorder	Goniodysgenesis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98633	"" []	5419524	\N	\N	EFO	7	EFO	eye disease	Goniodysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98633	"" []	5419525	\N	\N	EFO	7	EFO	genetic disorder	Goniodysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98633	"" []	6153713	\N	\N	EFO	8	EFO	disease	Goniodysgenesis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98633	"" []	6153714	\N	\N	EFO	8	EFO	disease	Goniodysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98633	"" []	6634577	\N	\N	EFO	9	EFO	disposition	Goniodysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98633	"" []	6926396	\N	\N	EFO	10	EFO	material property	Goniodysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98633	"" []	7099374	\N	\N	EFO	11	EFO	experimental factor	Goniodysgenesis
Orphanet:98634	\N	\N	"" []	Orphanet:98634	"" []	78973	\N	\N	EFO	0	EFO	Iridogoniodysgenesis	Iridogoniodysgenesis
Orphanet:98632	Orphanet:98634	\N	"" []	Orphanet:98634	"" []	223950	\N	\N	EFO	1	EFO	Glaucoma associated with neural crest cell migration anomaly	Iridogoniodysgenesis
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:98634	"" []	580664	\N	\N	EFO	2	EFO	Secondary dysgenetic glaucoma	Iridogoniodysgenesis
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98634	"" []	1164594	\N	\N	EFO	3	EFO	Hereditary glaucoma	Iridogoniodysgenesis
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98634	"" []	2048474	\N	\N	EFO	4	EFO	Non-syndromic developmental defect of the eye	Iridogoniodysgenesis
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98634	"" []	3198531	\N	\N	EFO	5	EFO	Genetic developmental defect of the eye	Iridogoniodysgenesis
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98634	"" []	4403841	\N	\N	EFO	6	EFO	Rare genetic eye disease	Iridogoniodysgenesis
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98634	"" []	4403842	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Iridogoniodysgenesis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98634	"" []	5419526	\N	\N	EFO	7	EFO	genetic disorder	Iridogoniodysgenesis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98634	"" []	5419527	\N	\N	EFO	7	EFO	eye disease	Iridogoniodysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98634	"" []	5419528	\N	\N	EFO	7	EFO	genetic disorder	Iridogoniodysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98634	"" []	6153715	\N	\N	EFO	8	EFO	disease	Iridogoniodysgenesis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98634	"" []	6153716	\N	\N	EFO	8	EFO	disease	Iridogoniodysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98634	"" []	6634578	\N	\N	EFO	9	EFO	disposition	Iridogoniodysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98634	"" []	6926397	\N	\N	EFO	10	EFO	material property	Iridogoniodysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98634	"" []	7099375	\N	\N	EFO	11	EFO	experimental factor	Iridogoniodysgenesis
Orphanet:98635	\N	\N	"" []	Orphanet:98635	"" []	78974	\N	\N	EFO	0	EFO	Corneogoniodysgenesis	Corneogoniodysgenesis
Orphanet:98632	Orphanet:98635	\N	"" []	Orphanet:98635	"" []	223951	\N	\N	EFO	1	EFO	Glaucoma associated with neural crest cell migration anomaly	Corneogoniodysgenesis
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:98635	"" []	580665	\N	\N	EFO	2	EFO	Secondary dysgenetic glaucoma	Corneogoniodysgenesis
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98635	"" []	1164595	\N	\N	EFO	3	EFO	Hereditary glaucoma	Corneogoniodysgenesis
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98635	"" []	2048475	\N	\N	EFO	4	EFO	Non-syndromic developmental defect of the eye	Corneogoniodysgenesis
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98635	"" []	3198532	\N	\N	EFO	5	EFO	Genetic developmental defect of the eye	Corneogoniodysgenesis
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98635	"" []	4403843	\N	\N	EFO	6	EFO	Rare genetic eye disease	Corneogoniodysgenesis
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98635	"" []	4403844	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Corneogoniodysgenesis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98635	"" []	5419529	\N	\N	EFO	7	EFO	genetic disorder	Corneogoniodysgenesis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98635	"" []	5419530	\N	\N	EFO	7	EFO	eye disease	Corneogoniodysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98635	"" []	5419531	\N	\N	EFO	7	EFO	genetic disorder	Corneogoniodysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98635	"" []	6153717	\N	\N	EFO	8	EFO	disease	Corneogoniodysgenesis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98635	"" []	6153718	\N	\N	EFO	8	EFO	disease	Corneogoniodysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98635	"" []	6634579	\N	\N	EFO	9	EFO	disposition	Corneogoniodysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98635	"" []	6926398	\N	\N	EFO	10	EFO	material property	Corneogoniodysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98635	"" []	7099376	\N	\N	EFO	11	EFO	experimental factor	Corneogoniodysgenesis
Orphanet:98636	\N	\N	"" []	Orphanet:98636	"" []	78975	\N	\N	EFO	0	EFO	Corneoiridogoniodysgenesis	Corneoiridogoniodysgenesis
Orphanet:98632	Orphanet:98636	\N	"" []	Orphanet:98636	"" []	223952	\N	\N	EFO	1	EFO	Glaucoma associated with neural crest cell migration anomaly	Corneoiridogoniodysgenesis
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:98636	"" []	580666	\N	\N	EFO	2	EFO	Secondary dysgenetic glaucoma	Corneoiridogoniodysgenesis
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98636	"" []	1164596	\N	\N	EFO	3	EFO	Hereditary glaucoma	Corneoiridogoniodysgenesis
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98636	"" []	2048476	\N	\N	EFO	4	EFO	Non-syndromic developmental defect of the eye	Corneoiridogoniodysgenesis
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98636	"" []	3198533	\N	\N	EFO	5	EFO	Genetic developmental defect of the eye	Corneoiridogoniodysgenesis
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98636	"" []	4403845	\N	\N	EFO	6	EFO	Rare genetic eye disease	Corneoiridogoniodysgenesis
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98636	"" []	4403846	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Corneoiridogoniodysgenesis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98636	"" []	5419532	\N	\N	EFO	7	EFO	genetic disorder	Corneoiridogoniodysgenesis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98636	"" []	5419533	\N	\N	EFO	7	EFO	eye disease	Corneoiridogoniodysgenesis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98636	"" []	5419534	\N	\N	EFO	7	EFO	genetic disorder	Corneoiridogoniodysgenesis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98636	"" []	6153719	\N	\N	EFO	8	EFO	disease	Corneoiridogoniodysgenesis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98636	"" []	6153720	\N	\N	EFO	8	EFO	disease	Corneoiridogoniodysgenesis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98636	"" []	6634580	\N	\N	EFO	9	EFO	disposition	Corneoiridogoniodysgenesis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98636	"" []	6926399	\N	\N	EFO	10	EFO	material property	Corneoiridogoniodysgenesis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98636	"" []	7099377	\N	\N	EFO	11	EFO	experimental factor	Corneoiridogoniodysgenesis
Orphanet:98637	\N	\N	"" []	Orphanet:98637	"" []	78976	\N	\N	EFO	0	EFO	Secondary glaucoma due to a proliferation and differentiation anomaly	Secondary glaucoma due to a proliferation and differentiation anomaly
Orphanet:98631	Orphanet:98637	\N	"" []	Orphanet:98637	"" []	223953	\N	\N	EFO	1	EFO	Secondary dysgenetic glaucoma	Secondary glaucoma due to a proliferation and differentiation anomaly
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98637	"" []	580667	\N	\N	EFO	2	EFO	Hereditary glaucoma	Secondary glaucoma due to a proliferation and differentiation anomaly
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98637	"" []	1164597	\N	\N	EFO	3	EFO	Non-syndromic developmental defect of the eye	Secondary glaucoma due to a proliferation and differentiation anomaly
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98637	"" []	2048477	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Secondary glaucoma due to a proliferation and differentiation anomaly
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98637	"" []	3198534	\N	\N	EFO	5	EFO	Rare genetic eye disease	Secondary glaucoma due to a proliferation and differentiation anomaly
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98637	"" []	3198535	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Secondary glaucoma due to a proliferation and differentiation anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98637	"" []	4403847	\N	\N	EFO	6	EFO	genetic disorder	Secondary glaucoma due to a proliferation and differentiation anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98637	"" []	4403848	\N	\N	EFO	6	EFO	eye disease	Secondary glaucoma due to a proliferation and differentiation anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98637	"" []	4403849	\N	\N	EFO	6	EFO	genetic disorder	Secondary glaucoma due to a proliferation and differentiation anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98637	"" []	5419535	\N	\N	EFO	7	EFO	disease	Secondary glaucoma due to a proliferation and differentiation anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98637	"" []	5419536	\N	\N	EFO	7	EFO	disease	Secondary glaucoma due to a proliferation and differentiation anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98637	"" []	6153721	\N	\N	EFO	8	EFO	disposition	Secondary glaucoma due to a proliferation and differentiation anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98637	"" []	6634581	\N	\N	EFO	9	EFO	material property	Secondary glaucoma due to a proliferation and differentiation anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98637	"" []	6926400	\N	\N	EFO	10	EFO	experimental factor	Secondary glaucoma due to a proliferation and differentiation anomaly
Orphanet:98638	\N	\N	"" []	Orphanet:98638	"" []	78977	\N	\N	EFO	0	EFO	Rare disease with glaucoma as a major feature	Rare disease with glaucoma as a major feature
Orphanet:101435	Orphanet:98638	\N	"" []	Orphanet:98638	"" []	223954	\N	\N	EFO	1	EFO	Rare genetic eye disease	Rare disease with glaucoma as a major feature
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98638	"" []	580668	\N	\N	EFO	2	EFO	genetic disorder	Rare disease with glaucoma as a major feature
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98638	"" []	580669	\N	\N	EFO	2	EFO	eye disease	Rare disease with glaucoma as a major feature
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98638	"" []	1164598	\N	\N	EFO	3	EFO	disease	Rare disease with glaucoma as a major feature
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98638	"" []	1164599	\N	\N	EFO	3	EFO	disease	Rare disease with glaucoma as a major feature
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98638	"" []	2048478	\N	\N	EFO	4	EFO	disposition	Rare disease with glaucoma as a major feature
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98638	"" []	3198536	\N	\N	EFO	5	EFO	material property	Rare disease with glaucoma as a major feature
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98638	"" []	4403850	\N	\N	EFO	6	EFO	experimental factor	Rare disease with glaucoma as a major feature
Orphanet:98640	\N	\N	"" []	Orphanet:98640	"" []	78978	\N	\N	EFO	0	EFO	Rare cataract	Rare cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98640	"" []	223955	\N	\N	EFO	1	EFO	Genetic lens and zonula anomaly	Rare cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98640	"" []	580670	\N	\N	EFO	2	EFO	Rare genetic eye disease	Rare cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98640	"" []	1164600	\N	\N	EFO	3	EFO	genetic disorder	Rare cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98640	"" []	1164601	\N	\N	EFO	3	EFO	eye disease	Rare cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98640	"" []	2048479	\N	\N	EFO	4	EFO	disease	Rare cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98640	"" []	2048480	\N	\N	EFO	4	EFO	disease	Rare cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98640	"" []	3198537	\N	\N	EFO	5	EFO	disposition	Rare cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98640	"" []	4403851	\N	\N	EFO	6	EFO	material property	Rare cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98640	"" []	5419537	\N	\N	EFO	7	EFO	experimental factor	Rare cataract
Orphanet:98641	\N	\N	"" []	Orphanet:98641	"" []	78979	\N	\N	EFO	0	EFO	Syndromic cataract	Syndromic cataract
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:98641	"" []	223956	\N	\N	EFO	1	EFO	Rare cataract	Syndromic cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98641	"" []	580671	\N	\N	EFO	2	EFO	Genetic lens and zonula anomaly	Syndromic cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98641	"" []	1164602	\N	\N	EFO	3	EFO	Rare genetic eye disease	Syndromic cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98641	"" []	2048481	\N	\N	EFO	4	EFO	genetic disorder	Syndromic cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98641	"" []	2048482	\N	\N	EFO	4	EFO	eye disease	Syndromic cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98641	"" []	3198538	\N	\N	EFO	5	EFO	disease	Syndromic cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98641	"" []	3198539	\N	\N	EFO	5	EFO	disease	Syndromic cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98641	"" []	4403852	\N	\N	EFO	6	EFO	disposition	Syndromic cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98641	"" []	5419538	\N	\N	EFO	7	EFO	material property	Syndromic cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98641	"" []	6153722	\N	\N	EFO	8	EFO	experimental factor	Syndromic cataract
Orphanet:98643	\N	\N	"" []	Orphanet:98643	"" []	78980	\N	\N	EFO	0	EFO	Systemic disease with cataract	Systemic disease with cataract
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:98643	"" []	223957	\N	\N	EFO	1	EFO	Syndromic cataract	Systemic disease with cataract
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:98643	"" []	580672	\N	\N	EFO	2	EFO	Rare cataract	Systemic disease with cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98643	"" []	1164603	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Systemic disease with cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98643	"" []	2048483	\N	\N	EFO	4	EFO	Rare genetic eye disease	Systemic disease with cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98643	"" []	3198540	\N	\N	EFO	5	EFO	genetic disorder	Systemic disease with cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98643	"" []	3198541	\N	\N	EFO	5	EFO	eye disease	Systemic disease with cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98643	"" []	4403853	\N	\N	EFO	6	EFO	disease	Systemic disease with cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98643	"" []	4403854	\N	\N	EFO	6	EFO	disease	Systemic disease with cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98643	"" []	5419539	\N	\N	EFO	7	EFO	disposition	Systemic disease with cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98643	"" []	6153723	\N	\N	EFO	8	EFO	material property	Systemic disease with cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98643	"" []	6634582	\N	\N	EFO	9	EFO	experimental factor	Systemic disease with cataract
Orphanet:98644	\N	\N	"" []	Orphanet:98644	"" []	78981	\N	\N	EFO	0	EFO	Cataract associated with a metabolic disease	Cataract associated with a metabolic disease
Orphanet:98643	Orphanet:98644	\N	"" []	Orphanet:98644	"" []	223958	\N	\N	EFO	1	EFO	Systemic disease with cataract	Cataract associated with a metabolic disease
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:98644	"" []	580673	\N	\N	EFO	2	EFO	Syndromic cataract	Cataract associated with a metabolic disease
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:98644	"" []	1164604	\N	\N	EFO	3	EFO	Rare cataract	Cataract associated with a metabolic disease
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98644	"" []	2048484	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Cataract associated with a metabolic disease
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98644	"" []	3198542	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cataract associated with a metabolic disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98644	"" []	4403855	\N	\N	EFO	6	EFO	genetic disorder	Cataract associated with a metabolic disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98644	"" []	4403856	\N	\N	EFO	6	EFO	eye disease	Cataract associated with a metabolic disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98644	"" []	5419540	\N	\N	EFO	7	EFO	disease	Cataract associated with a metabolic disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98644	"" []	5419541	\N	\N	EFO	7	EFO	disease	Cataract associated with a metabolic disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98644	"" []	6153724	\N	\N	EFO	8	EFO	disposition	Cataract associated with a metabolic disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98644	"" []	6634583	\N	\N	EFO	9	EFO	material property	Cataract associated with a metabolic disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98644	"" []	6926401	\N	\N	EFO	10	EFO	experimental factor	Cataract associated with a metabolic disease
Orphanet:98645	\N	\N	"" []	Orphanet:98645	"" []	78982	\N	\N	EFO	0	EFO	Cerebral disease with cataract	Cerebral disease with cataract
Orphanet:98643	Orphanet:98645	\N	"" []	Orphanet:98645	"" []	223959	\N	\N	EFO	1	EFO	Systemic disease with cataract	Cerebral disease with cataract
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:98645	"" []	580674	\N	\N	EFO	2	EFO	Syndromic cataract	Cerebral disease with cataract
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:98645	"" []	1164605	\N	\N	EFO	3	EFO	Rare cataract	Cerebral disease with cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98645	"" []	2048485	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Cerebral disease with cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98645	"" []	3198543	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cerebral disease with cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98645	"" []	4403857	\N	\N	EFO	6	EFO	genetic disorder	Cerebral disease with cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98645	"" []	4403858	\N	\N	EFO	6	EFO	eye disease	Cerebral disease with cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98645	"" []	5419542	\N	\N	EFO	7	EFO	disease	Cerebral disease with cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98645	"" []	5419543	\N	\N	EFO	7	EFO	disease	Cerebral disease with cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98645	"" []	6153725	\N	\N	EFO	8	EFO	disposition	Cerebral disease with cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98645	"" []	6634584	\N	\N	EFO	9	EFO	material property	Cerebral disease with cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98645	"" []	6926402	\N	\N	EFO	10	EFO	experimental factor	Cerebral disease with cataract
Orphanet:98646	\N	\N	"" []	Orphanet:98646	"" []	78983	\N	\N	EFO	0	EFO	Renal disease with cataract	Renal disease with cataract
Orphanet:98643	Orphanet:98646	\N	"" []	Orphanet:98646	"" []	223960	\N	\N	EFO	1	EFO	Systemic disease with cataract	Renal disease with cataract
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:98646	"" []	580675	\N	\N	EFO	2	EFO	Syndromic cataract	Renal disease with cataract
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:98646	"" []	1164606	\N	\N	EFO	3	EFO	Rare cataract	Renal disease with cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98646	"" []	2048486	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Renal disease with cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98646	"" []	3198544	\N	\N	EFO	5	EFO	Rare genetic eye disease	Renal disease with cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98646	"" []	4403859	\N	\N	EFO	6	EFO	genetic disorder	Renal disease with cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98646	"" []	4403860	\N	\N	EFO	6	EFO	eye disease	Renal disease with cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98646	"" []	5419544	\N	\N	EFO	7	EFO	disease	Renal disease with cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98646	"" []	5419545	\N	\N	EFO	7	EFO	disease	Renal disease with cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98646	"" []	6153726	\N	\N	EFO	8	EFO	disposition	Renal disease with cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98646	"" []	6634585	\N	\N	EFO	9	EFO	material property	Renal disease with cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98646	"" []	6926403	\N	\N	EFO	10	EFO	experimental factor	Renal disease with cataract
Orphanet:98647	\N	\N	"" []	Orphanet:98647	"" []	78984	\N	\N	EFO	0	EFO	Cardiac disease with cataract	Cardiac disease with cataract
Orphanet:98643	Orphanet:98647	\N	"" []	Orphanet:98647	"" []	223961	\N	\N	EFO	1	EFO	Systemic disease with cataract	Cardiac disease with cataract
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:98647	"" []	580676	\N	\N	EFO	2	EFO	Syndromic cataract	Cardiac disease with cataract
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:98647	"" []	1164607	\N	\N	EFO	3	EFO	Rare cataract	Cardiac disease with cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98647	"" []	2048487	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Cardiac disease with cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98647	"" []	3198545	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cardiac disease with cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98647	"" []	4403861	\N	\N	EFO	6	EFO	genetic disorder	Cardiac disease with cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98647	"" []	4403862	\N	\N	EFO	6	EFO	eye disease	Cardiac disease with cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98647	"" []	5419546	\N	\N	EFO	7	EFO	disease	Cardiac disease with cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98647	"" []	5419547	\N	\N	EFO	7	EFO	disease	Cardiac disease with cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98647	"" []	6153727	\N	\N	EFO	8	EFO	disposition	Cardiac disease with cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98647	"" []	6634586	\N	\N	EFO	9	EFO	material property	Cardiac disease with cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98647	"" []	6926404	\N	\N	EFO	10	EFO	experimental factor	Cardiac disease with cataract
Orphanet:98648	\N	\N	"" []	Orphanet:98648	"" []	78985	\N	\N	EFO	0	EFO	Musculoskeletal disease with cataract	Musculoskeletal disease with cataract
Orphanet:98643	Orphanet:98648	\N	"" []	Orphanet:98648	"" []	223962	\N	\N	EFO	1	EFO	Systemic disease with cataract	Musculoskeletal disease with cataract
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:98648	"" []	580677	\N	\N	EFO	2	EFO	Syndromic cataract	Musculoskeletal disease with cataract
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:98648	"" []	1164608	\N	\N	EFO	3	EFO	Rare cataract	Musculoskeletal disease with cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98648	"" []	2048488	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Musculoskeletal disease with cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98648	"" []	3198546	\N	\N	EFO	5	EFO	Rare genetic eye disease	Musculoskeletal disease with cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98648	"" []	4403863	\N	\N	EFO	6	EFO	genetic disorder	Musculoskeletal disease with cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98648	"" []	4403864	\N	\N	EFO	6	EFO	eye disease	Musculoskeletal disease with cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98648	"" []	5419548	\N	\N	EFO	7	EFO	disease	Musculoskeletal disease with cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98648	"" []	5419549	\N	\N	EFO	7	EFO	disease	Musculoskeletal disease with cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98648	"" []	6153728	\N	\N	EFO	8	EFO	disposition	Musculoskeletal disease with cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98648	"" []	6634587	\N	\N	EFO	9	EFO	material property	Musculoskeletal disease with cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98648	"" []	6926405	\N	\N	EFO	10	EFO	experimental factor	Musculoskeletal disease with cataract
Orphanet:98649	\N	\N	"" []	Orphanet:98649	"" []	78986	\N	\N	EFO	0	EFO	Dentocutaneous disease with cataract	Dentocutaneous disease with cataract
Orphanet:98643	Orphanet:98649	\N	"" []	Orphanet:98649	"" []	223963	\N	\N	EFO	1	EFO	Systemic disease with cataract	Dentocutaneous disease with cataract
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:98649	"" []	580678	\N	\N	EFO	2	EFO	Syndromic cataract	Dentocutaneous disease with cataract
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:98649	"" []	1164609	\N	\N	EFO	3	EFO	Rare cataract	Dentocutaneous disease with cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98649	"" []	2048489	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Dentocutaneous disease with cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98649	"" []	3198547	\N	\N	EFO	5	EFO	Rare genetic eye disease	Dentocutaneous disease with cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98649	"" []	4403865	\N	\N	EFO	6	EFO	genetic disorder	Dentocutaneous disease with cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98649	"" []	4403866	\N	\N	EFO	6	EFO	eye disease	Dentocutaneous disease with cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98649	"" []	5419550	\N	\N	EFO	7	EFO	disease	Dentocutaneous disease with cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98649	"" []	5419551	\N	\N	EFO	7	EFO	disease	Dentocutaneous disease with cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98649	"" []	6153729	\N	\N	EFO	8	EFO	disposition	Dentocutaneous disease with cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98649	"" []	6634588	\N	\N	EFO	9	EFO	material property	Dentocutaneous disease with cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98649	"" []	6926406	\N	\N	EFO	10	EFO	experimental factor	Dentocutaneous disease with cataract
Orphanet:98650	\N	\N	"" []	Orphanet:98650	"" []	78987	\N	\N	EFO	0	EFO	Craniofacial anomaly with cataract	Craniofacial anomaly with cataract
Orphanet:98643	Orphanet:98650	\N	"" []	Orphanet:98650	"" []	223964	\N	\N	EFO	1	EFO	Systemic disease with cataract	Craniofacial anomaly with cataract
Orphanet:98641	Orphanet:98643	\N	"" []	Orphanet:98650	"" []	580679	\N	\N	EFO	2	EFO	Syndromic cataract	Craniofacial anomaly with cataract
Orphanet:98640	Orphanet:98641	\N	"" []	Orphanet:98650	"" []	1164610	\N	\N	EFO	3	EFO	Rare cataract	Craniofacial anomaly with cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98650	"" []	2048490	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Craniofacial anomaly with cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98650	"" []	3198548	\N	\N	EFO	5	EFO	Rare genetic eye disease	Craniofacial anomaly with cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98650	"" []	4403867	\N	\N	EFO	6	EFO	genetic disorder	Craniofacial anomaly with cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98650	"" []	4403868	\N	\N	EFO	6	EFO	eye disease	Craniofacial anomaly with cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98650	"" []	5419552	\N	\N	EFO	7	EFO	disease	Craniofacial anomaly with cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98650	"" []	5419553	\N	\N	EFO	7	EFO	disease	Craniofacial anomaly with cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98650	"" []	6153730	\N	\N	EFO	8	EFO	disposition	Craniofacial anomaly with cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98650	"" []	6634589	\N	\N	EFO	9	EFO	material property	Craniofacial anomaly with cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98650	"" []	6926407	\N	\N	EFO	10	EFO	experimental factor	Craniofacial anomaly with cataract
Orphanet:98652	\N	\N	"" []	Orphanet:98652	"" []	78988	\N	\N	EFO	0	EFO	Lens size anomaly	Lens size anomaly
Orphanet:183607	Orphanet:98652	\N	"" []	Orphanet:98652	"" []	223965	\N	\N	EFO	1	EFO	Genetic lens and zonula anomaly	Lens size anomaly
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98652	"" []	580680	\N	\N	EFO	2	EFO	Rare genetic eye disease	Lens size anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98652	"" []	1164611	\N	\N	EFO	3	EFO	genetic disorder	Lens size anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98652	"" []	1164612	\N	\N	EFO	3	EFO	eye disease	Lens size anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98652	"" []	2048491	\N	\N	EFO	4	EFO	disease	Lens size anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98652	"" []	2048492	\N	\N	EFO	4	EFO	disease	Lens size anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98652	"" []	3198549	\N	\N	EFO	5	EFO	disposition	Lens size anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98652	"" []	4403869	\N	\N	EFO	6	EFO	material property	Lens size anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98652	"" []	5419554	\N	\N	EFO	7	EFO	experimental factor	Lens size anomaly
Orphanet:98653	\N	\N	"" []	Orphanet:98653	"" []	78989	\N	\N	EFO	0	EFO	Lens position anomaly	Lens position anomaly
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:98653	"" []	223966	\N	\N	EFO	1	EFO	Genetic lens and zonula anomaly	Lens position anomaly
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98653	"" []	580681	\N	\N	EFO	2	EFO	Rare genetic eye disease	Lens position anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98653	"" []	1164613	\N	\N	EFO	3	EFO	genetic disorder	Lens position anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98653	"" []	1164614	\N	\N	EFO	3	EFO	eye disease	Lens position anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98653	"" []	2048493	\N	\N	EFO	4	EFO	disease	Lens position anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98653	"" []	2048494	\N	\N	EFO	4	EFO	disease	Lens position anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98653	"" []	3198550	\N	\N	EFO	5	EFO	disposition	Lens position anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98653	"" []	4403870	\N	\N	EFO	6	EFO	material property	Lens position anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98653	"" []	5419555	\N	\N	EFO	7	EFO	experimental factor	Lens position anomaly
Orphanet:98655	\N	\N	"" []	Orphanet:98655	"" []	78990	\N	\N	EFO	0	EFO	Lens shape anomaly	Lens shape anomaly
Orphanet:183607	Orphanet:98655	\N	"" []	Orphanet:98655	"" []	223967	\N	\N	EFO	1	EFO	Genetic lens and zonula anomaly	Lens shape anomaly
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98655	"" []	580682	\N	\N	EFO	2	EFO	Rare genetic eye disease	Lens shape anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98655	"" []	1164615	\N	\N	EFO	3	EFO	genetic disorder	Lens shape anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98655	"" []	1164616	\N	\N	EFO	3	EFO	eye disease	Lens shape anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98655	"" []	2048495	\N	\N	EFO	4	EFO	disease	Lens shape anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98655	"" []	2048496	\N	\N	EFO	4	EFO	disease	Lens shape anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98655	"" []	3198551	\N	\N	EFO	5	EFO	disposition	Lens shape anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98655	"" []	4403871	\N	\N	EFO	6	EFO	material property	Lens shape anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98655	"" []	5419556	\N	\N	EFO	7	EFO	experimental factor	Lens shape anomaly
Orphanet:98657	\N	\N	"" []	Orphanet:98657	"" []	78991	\N	\N	EFO	0	EFO	Genetic vitreous-retinal disease	Genetic vitreous-retinal disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:98657	"" []	223968	\N	\N	EFO	1	EFO	Rare genetic eye disease	Genetic vitreous-retinal disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98657	"" []	580683	\N	\N	EFO	2	EFO	genetic disorder	Genetic vitreous-retinal disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98657	"" []	580684	\N	\N	EFO	2	EFO	eye disease	Genetic vitreous-retinal disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98657	"" []	1164617	\N	\N	EFO	3	EFO	disease	Genetic vitreous-retinal disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98657	"" []	1164618	\N	\N	EFO	3	EFO	disease	Genetic vitreous-retinal disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98657	"" []	2048497	\N	\N	EFO	4	EFO	disposition	Genetic vitreous-retinal disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98657	"" []	3198552	\N	\N	EFO	5	EFO	material property	Genetic vitreous-retinal disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98657	"" []	4403872	\N	\N	EFO	6	EFO	experimental factor	Genetic vitreous-retinal disease
Orphanet:98658	\N	\N	"" []	Orphanet:98658	"" []	78992	\N	\N	EFO	0	EFO	Color-vision disease	Color-vision disease
Orphanet:98657	Orphanet:98658	\N	"" []	Orphanet:98658	"" []	223969	\N	\N	EFO	1	EFO	Genetic vitreous-retinal disease	Color-vision disease
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:98658	"" []	580685	\N	\N	EFO	2	EFO	Rare genetic eye disease	Color-vision disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98658	"" []	1164619	\N	\N	EFO	3	EFO	genetic disorder	Color-vision disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98658	"" []	1164620	\N	\N	EFO	3	EFO	eye disease	Color-vision disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98658	"" []	2048498	\N	\N	EFO	4	EFO	disease	Color-vision disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98658	"" []	2048499	\N	\N	EFO	4	EFO	disease	Color-vision disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98658	"" []	3198553	\N	\N	EFO	5	EFO	disposition	Color-vision disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98658	"" []	4403873	\N	\N	EFO	6	EFO	material property	Color-vision disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98658	"" []	5419557	\N	\N	EFO	7	EFO	experimental factor	Color-vision disease
Orphanet:98661	\N	\N	"" []	Orphanet:98661	"" []	78993	\N	\N	EFO	0	EFO	Syndromic retinitis pigmentosa	Syndromic retinitis pigmentosa
Orphanet:71862	Orphanet:98661	\N	"" []	Orphanet:98661	"" []	223970	\N	\N	EFO	1	EFO	Retinal dystrophy	Syndromic retinitis pigmentosa
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:98661	"" []	580686	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Syndromic retinitis pigmentosa
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:98661	"" []	1164621	\N	\N	EFO	3	EFO	Rare genetic eye disease	Syndromic retinitis pigmentosa
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98661	"" []	2048500	\N	\N	EFO	4	EFO	genetic disorder	Syndromic retinitis pigmentosa
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98661	"" []	2048501	\N	\N	EFO	4	EFO	eye disease	Syndromic retinitis pigmentosa
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98661	"" []	3198554	\N	\N	EFO	5	EFO	disease	Syndromic retinitis pigmentosa
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98661	"" []	3198555	\N	\N	EFO	5	EFO	disease	Syndromic retinitis pigmentosa
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98661	"" []	4403874	\N	\N	EFO	6	EFO	disposition	Syndromic retinitis pigmentosa
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98661	"" []	5419558	\N	\N	EFO	7	EFO	material property	Syndromic retinitis pigmentosa
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98661	"" []	6153731	\N	\N	EFO	8	EFO	experimental factor	Syndromic retinitis pigmentosa
Orphanet:98662	\N	\N	"" []	Orphanet:98662	"" []	78994	\N	\N	EFO	0	EFO	Unclassified familial retinal dystrophy	Unclassified familial retinal dystrophy
Orphanet:71862	Orphanet:98662	\N	"" []	Orphanet:98662	"" []	223971	\N	\N	EFO	1	EFO	Retinal dystrophy	Unclassified familial retinal dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:98662	"" []	580687	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Unclassified familial retinal dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:98662	"" []	1164622	\N	\N	EFO	3	EFO	Rare genetic eye disease	Unclassified familial retinal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98662	"" []	2048502	\N	\N	EFO	4	EFO	genetic disorder	Unclassified familial retinal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98662	"" []	2048503	\N	\N	EFO	4	EFO	eye disease	Unclassified familial retinal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98662	"" []	3198556	\N	\N	EFO	5	EFO	disease	Unclassified familial retinal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98662	"" []	3198557	\N	\N	EFO	5	EFO	disease	Unclassified familial retinal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98662	"" []	4403875	\N	\N	EFO	6	EFO	disposition	Unclassified familial retinal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98662	"" []	5419559	\N	\N	EFO	7	EFO	material property	Unclassified familial retinal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98662	"" []	6153732	\N	\N	EFO	8	EFO	experimental factor	Unclassified familial retinal dystrophy
Orphanet:98664	\N	\N	"" []	Orphanet:98664	"" []	78995	\N	\N	EFO	0	EFO	Genetic macular dystrophy	Genetic macular dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:98664	"" []	223972	\N	\N	EFO	1	EFO	Retinal dystrophy	Genetic macular dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:98664	"" []	580688	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Genetic macular dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:98664	"" []	1164623	\N	\N	EFO	3	EFO	Rare genetic eye disease	Genetic macular dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98664	"" []	2048504	\N	\N	EFO	4	EFO	genetic disorder	Genetic macular dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98664	"" []	2048505	\N	\N	EFO	4	EFO	eye disease	Genetic macular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98664	"" []	3198558	\N	\N	EFO	5	EFO	disease	Genetic macular dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98664	"" []	3198559	\N	\N	EFO	5	EFO	disease	Genetic macular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98664	"" []	4403876	\N	\N	EFO	6	EFO	disposition	Genetic macular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98664	"" []	5419560	\N	\N	EFO	7	EFO	material property	Genetic macular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98664	"" []	6153733	\N	\N	EFO	8	EFO	experimental factor	Genetic macular dystrophy
Orphanet:98665	\N	\N	"" []	Orphanet:98665	"" []	78996	\N	\N	EFO	0	EFO	Colobomatous and areolar dystrophy	Colobomatous and areolar dystrophy
Orphanet:98664	Orphanet:98665	\N	"" []	Orphanet:98665	"" []	223973	\N	\N	EFO	1	EFO	Genetic macular dystrophy	Colobomatous and areolar dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:98665	"" []	580689	\N	\N	EFO	2	EFO	Retinal dystrophy	Colobomatous and areolar dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:98665	"" []	1164624	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Colobomatous and areolar dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:98665	"" []	2048506	\N	\N	EFO	4	EFO	Rare genetic eye disease	Colobomatous and areolar dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98665	"" []	3198560	\N	\N	EFO	5	EFO	genetic disorder	Colobomatous and areolar dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98665	"" []	3198561	\N	\N	EFO	5	EFO	eye disease	Colobomatous and areolar dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98665	"" []	4403877	\N	\N	EFO	6	EFO	disease	Colobomatous and areolar dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98665	"" []	4403878	\N	\N	EFO	6	EFO	disease	Colobomatous and areolar dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98665	"" []	5419561	\N	\N	EFO	7	EFO	disposition	Colobomatous and areolar dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98665	"" []	6153734	\N	\N	EFO	8	EFO	material property	Colobomatous and areolar dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98665	"" []	6634590	\N	\N	EFO	9	EFO	experimental factor	Colobomatous and areolar dystrophy
Orphanet:98666	\N	\N	"" []	Orphanet:98666	"" []	78997	\N	\N	EFO	0	EFO	Unclassified primitive or secondary maculopathy	Unclassified primitive or secondary maculopathy
Orphanet:98664	Orphanet:98666	\N	"" []	Orphanet:98666	"" []	223974	\N	\N	EFO	1	EFO	Genetic macular dystrophy	Unclassified primitive or secondary maculopathy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:98666	"" []	580690	\N	\N	EFO	2	EFO	Retinal dystrophy	Unclassified primitive or secondary maculopathy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:98666	"" []	1164625	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Unclassified primitive or secondary maculopathy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:98666	"" []	2048507	\N	\N	EFO	4	EFO	Rare genetic eye disease	Unclassified primitive or secondary maculopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98666	"" []	3198562	\N	\N	EFO	5	EFO	genetic disorder	Unclassified primitive or secondary maculopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98666	"" []	3198563	\N	\N	EFO	5	EFO	eye disease	Unclassified primitive or secondary maculopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98666	"" []	4403879	\N	\N	EFO	6	EFO	disease	Unclassified primitive or secondary maculopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98666	"" []	4403880	\N	\N	EFO	6	EFO	disease	Unclassified primitive or secondary maculopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98666	"" []	5419562	\N	\N	EFO	7	EFO	disposition	Unclassified primitive or secondary maculopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98666	"" []	6153735	\N	\N	EFO	8	EFO	material property	Unclassified primitive or secondary maculopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98666	"" []	6634591	\N	\N	EFO	9	EFO	experimental factor	Unclassified primitive or secondary maculopathy
Orphanet:98667	\N	\N	"" []	Orphanet:98667	"" []	78998	\N	\N	EFO	0	EFO	Disease predisposing to age-related macular degeneration	Disease predisposing to age-related macular degeneration
Orphanet:98657	Orphanet:98667	\N	"" []	Orphanet:98667	"" []	223975	\N	\N	EFO	1	EFO	Genetic vitreous-retinal disease	Disease predisposing to age-related macular degeneration
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:98667	"" []	580691	\N	\N	EFO	2	EFO	Rare genetic eye disease	Disease predisposing to age-related macular degeneration
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98667	"" []	1164626	\N	\N	EFO	3	EFO	genetic disorder	Disease predisposing to age-related macular degeneration
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98667	"" []	1164627	\N	\N	EFO	3	EFO	eye disease	Disease predisposing to age-related macular degeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98667	"" []	2048508	\N	\N	EFO	4	EFO	disease	Disease predisposing to age-related macular degeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98667	"" []	2048509	\N	\N	EFO	4	EFO	disease	Disease predisposing to age-related macular degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98667	"" []	3198564	\N	\N	EFO	5	EFO	disposition	Disease predisposing to age-related macular degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98667	"" []	4403881	\N	\N	EFO	6	EFO	material property	Disease predisposing to age-related macular degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98667	"" []	5419563	\N	\N	EFO	7	EFO	experimental factor	Disease predisposing to age-related macular degeneration
Orphanet:98668	\N	\N	"" []	Orphanet:98668	"" []	78999	\N	\N	EFO	0	EFO	Vitreoretinopathy	Vitreoretinopathy
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:98668	"" []	223976	\N	\N	EFO	1	EFO	Genetic vitreous-retinal disease	Vitreoretinopathy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:98668	"" []	580692	\N	\N	EFO	2	EFO	Rare genetic eye disease	Vitreoretinopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98668	"" []	1164628	\N	\N	EFO	3	EFO	genetic disorder	Vitreoretinopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98668	"" []	1164629	\N	\N	EFO	3	EFO	eye disease	Vitreoretinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98668	"" []	2048510	\N	\N	EFO	4	EFO	disease	Vitreoretinopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98668	"" []	2048511	\N	\N	EFO	4	EFO	disease	Vitreoretinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98668	"" []	3198565	\N	\N	EFO	5	EFO	disposition	Vitreoretinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98668	"" []	4403882	\N	\N	EFO	6	EFO	material property	Vitreoretinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98668	"" []	5419564	\N	\N	EFO	7	EFO	experimental factor	Vitreoretinopathy
Orphanet:98669	\N	\N	"" []	Orphanet:98669	"" []	79000	\N	\N	EFO	0	EFO	Congenital vitreoretinal dysplasia	Congenital vitreoretinal dysplasia
Orphanet:98668	Orphanet:98669	\N	"" []	Orphanet:98669	"" []	223977	\N	\N	EFO	1	EFO	Vitreoretinopathy	Congenital vitreoretinal dysplasia
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:98669	"" []	580693	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Congenital vitreoretinal dysplasia
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:98669	"" []	1164630	\N	\N	EFO	3	EFO	Rare genetic eye disease	Congenital vitreoretinal dysplasia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98669	"" []	2048512	\N	\N	EFO	4	EFO	genetic disorder	Congenital vitreoretinal dysplasia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98669	"" []	2048513	\N	\N	EFO	4	EFO	eye disease	Congenital vitreoretinal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98669	"" []	3198566	\N	\N	EFO	5	EFO	disease	Congenital vitreoretinal dysplasia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98669	"" []	3198567	\N	\N	EFO	5	EFO	disease	Congenital vitreoretinal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98669	"" []	4403883	\N	\N	EFO	6	EFO	disposition	Congenital vitreoretinal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98669	"" []	5419565	\N	\N	EFO	7	EFO	material property	Congenital vitreoretinal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98669	"" []	6153736	\N	\N	EFO	8	EFO	experimental factor	Congenital vitreoretinal dysplasia
Orphanet:98670	\N	\N	"" []	Orphanet:98670	"" []	79001	\N	\N	EFO	0	EFO	Vitreoretinal degeneration	Vitreoretinal degeneration
Orphanet:98668	Orphanet:98670	\N	"" []	Orphanet:98670	"" []	223978	\N	\N	EFO	1	EFO	Vitreoretinopathy	Vitreoretinal degeneration
Orphanet:98657	Orphanet:98668	\N	"" []	Orphanet:98670	"" []	580694	\N	\N	EFO	2	EFO	Genetic vitreous-retinal disease	Vitreoretinal degeneration
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:98670	"" []	1164631	\N	\N	EFO	3	EFO	Rare genetic eye disease	Vitreoretinal degeneration
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98670	"" []	2048514	\N	\N	EFO	4	EFO	genetic disorder	Vitreoretinal degeneration
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98670	"" []	2048515	\N	\N	EFO	4	EFO	eye disease	Vitreoretinal degeneration
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98670	"" []	3198568	\N	\N	EFO	5	EFO	disease	Vitreoretinal degeneration
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98670	"" []	3198569	\N	\N	EFO	5	EFO	disease	Vitreoretinal degeneration
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98670	"" []	4403884	\N	\N	EFO	6	EFO	disposition	Vitreoretinal degeneration
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98670	"" []	5419566	\N	\N	EFO	7	EFO	material property	Vitreoretinal degeneration
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98670	"" []	6153737	\N	\N	EFO	8	EFO	experimental factor	Vitreoretinal degeneration
Orphanet:98671	\N	\N	"" []	Orphanet:98671	"" []	79002	\N	\N	EFO	0	EFO	Optic neuropathy	Optic neuropathy
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:98671	"" []	223979	\N	\N	EFO	1	EFO	Rare genetic eye disease	Optic neuropathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98671	"" []	580695	\N	\N	EFO	2	EFO	genetic disorder	Optic neuropathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98671	"" []	580696	\N	\N	EFO	2	EFO	eye disease	Optic neuropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98671	"" []	1164632	\N	\N	EFO	3	EFO	disease	Optic neuropathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98671	"" []	1164633	\N	\N	EFO	3	EFO	disease	Optic neuropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98671	"" []	2048516	\N	\N	EFO	4	EFO	disposition	Optic neuropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98671	"" []	3198570	\N	\N	EFO	5	EFO	material property	Optic neuropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98671	"" []	4403885	\N	\N	EFO	6	EFO	experimental factor	Optic neuropathy
Orphanet:98672	\N	\N	"" []	Orphanet:98672	"" []	79003	\N	\N	EFO	0	EFO	Autosomal dominant optic atrophy	Autosomal dominant optic atrophy
Orphanet:103	Orphanet:98672	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:98672	"" []	223980	\N	\N	EFO	1	EFO	Genetic optic atrophy	Autosomal dominant optic atrophy
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:98672	"" []	580697	\N	\N	EFO	2	EFO	Optic neuropathy	Autosomal dominant optic atrophy
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:98672	"" []	1164634	\N	\N	EFO	3	EFO	Rare genetic eye disease	Autosomal dominant optic atrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98672	"" []	2048517	\N	\N	EFO	4	EFO	genetic disorder	Autosomal dominant optic atrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98672	"" []	2048518	\N	\N	EFO	4	EFO	eye disease	Autosomal dominant optic atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98672	"" []	3198571	\N	\N	EFO	5	EFO	disease	Autosomal dominant optic atrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98672	"" []	3198572	\N	\N	EFO	5	EFO	disease	Autosomal dominant optic atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98672	"" []	4403886	\N	\N	EFO	6	EFO	disposition	Autosomal dominant optic atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98672	"" []	5419567	\N	\N	EFO	7	EFO	material property	Autosomal dominant optic atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98672	"" []	6153738	\N	\N	EFO	8	EFO	experimental factor	Autosomal dominant optic atrophy
Orphanet:98673	\N	\N	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	79004	\N	\N	EFO	0	EFO	Autosomal dominant optic atrophy, classic type	Autosomal dominant optic atrophy, classic type
Orphanet:254822	Orphanet:98673	\N	"" []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	223981	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder with no known mechanism	Autosomal dominant optic atrophy, classic type
Orphanet:98672	Orphanet:98673	\N	"" []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	223982	\N	\N	EFO	1	EFO	Autosomal dominant optic atrophy	Autosomal dominant optic atrophy, classic type
Orphanet:2443	Orphanet:254822	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	580698	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal dominant optic atrophy, classic type
Orphanet:103	Orphanet:98672	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	580699	\N	\N	EFO	2	EFO	Genetic optic atrophy	Autosomal dominant optic atrophy, classic type
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	1164635	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal dominant optic atrophy, classic type
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	1164636	\N	\N	EFO	3	EFO	Optic neuropathy	Autosomal dominant optic atrophy, classic type
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	2048519	\N	\N	EFO	4	EFO	Mitochondrial disease	Autosomal dominant optic atrophy, classic type
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	2048520	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal dominant optic atrophy, classic type
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	3198573	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Autosomal dominant optic atrophy, classic type
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	3198574	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Autosomal dominant optic atrophy, classic type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	3198575	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant optic atrophy, classic type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	3198576	\N	\N	EFO	5	EFO	eye disease	Autosomal dominant optic atrophy, classic type
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	4403887	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal dominant optic atrophy, classic type
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	4403888	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Autosomal dominant optic atrophy, classic type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	6153739	\N	\N	EFO	8	EFO	disease	Autosomal dominant optic atrophy, classic type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	4403890	\N	\N	EFO	6	EFO	disease	Autosomal dominant optic atrophy, classic type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	5419568	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant optic atrophy, classic type
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	5419569	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant optic atrophy, classic type
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	5419570	\N	\N	EFO	7	EFO	metabolic disease	Autosomal dominant optic atrophy, classic type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	6471132	\N	\N	EFO	9	EFO	disposition	Autosomal dominant optic atrophy, classic type
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	6153740	\N	\N	EFO	8	EFO	disease	Autosomal dominant optic atrophy, classic type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	6848925	\N	\N	EFO	10	EFO	material property	Autosomal dominant optic atrophy, classic type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98673	"Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" []	7068558	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant optic atrophy, classic type
Orphanet:98675	\N	\N	"" []	Orphanet:98675	"" []	79005	\N	\N	EFO	0	EFO	Autosomal recessive optic atrophy	Autosomal recessive optic atrophy
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:98675	"" []	223983	\N	\N	EFO	1	EFO	Genetic optic atrophy	Autosomal recessive optic atrophy
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:98675	"" []	580700	\N	\N	EFO	2	EFO	Optic neuropathy	Autosomal recessive optic atrophy
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:98675	"" []	1164637	\N	\N	EFO	3	EFO	Rare genetic eye disease	Autosomal recessive optic atrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98675	"" []	2048521	\N	\N	EFO	4	EFO	genetic disorder	Autosomal recessive optic atrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98675	"" []	2048522	\N	\N	EFO	4	EFO	eye disease	Autosomal recessive optic atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98675	"" []	3198577	\N	\N	EFO	5	EFO	disease	Autosomal recessive optic atrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98675	"" []	3198578	\N	\N	EFO	5	EFO	disease	Autosomal recessive optic atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98675	"" []	4403891	\N	\N	EFO	6	EFO	disposition	Autosomal recessive optic atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98675	"" []	5419572	\N	\N	EFO	7	EFO	material property	Autosomal recessive optic atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98675	"" []	6153742	\N	\N	EFO	8	EFO	experimental factor	Autosomal recessive optic atrophy
Orphanet:98676	\N	\N	"" []	Orphanet:98676	"" []	79006	\N	\N	EFO	0	EFO	Autosomal recessive isolated optic atrophy	Autosomal recessive isolated optic atrophy
Orphanet:98675	Orphanet:98676	\N	"" []	Orphanet:98676	"" []	223984	\N	\N	EFO	1	EFO	Autosomal recessive optic atrophy	Autosomal recessive isolated optic atrophy
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:98676	"" []	580701	\N	\N	EFO	2	EFO	Genetic optic atrophy	Autosomal recessive isolated optic atrophy
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:98676	"" []	1164638	\N	\N	EFO	3	EFO	Optic neuropathy	Autosomal recessive isolated optic atrophy
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:98676	"" []	2048523	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal recessive isolated optic atrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98676	"" []	3198579	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive isolated optic atrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98676	"" []	3198580	\N	\N	EFO	5	EFO	eye disease	Autosomal recessive isolated optic atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98676	"" []	4403892	\N	\N	EFO	6	EFO	disease	Autosomal recessive isolated optic atrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98676	"" []	4403893	\N	\N	EFO	6	EFO	disease	Autosomal recessive isolated optic atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98676	"" []	5419573	\N	\N	EFO	7	EFO	disposition	Autosomal recessive isolated optic atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98676	"" []	6153743	\N	\N	EFO	8	EFO	material property	Autosomal recessive isolated optic atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98676	"" []	6634593	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive isolated optic atrophy
Orphanet:98677	\N	\N	"" []	Orphanet:98677	"" []	79007	\N	\N	EFO	0	EFO	Autosomal recessive syndromic optic atrophy	Autosomal recessive syndromic optic atrophy
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:98677	"" []	223985	\N	\N	EFO	1	EFO	Autosomal recessive optic atrophy	Autosomal recessive syndromic optic atrophy
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:98677	"" []	580702	\N	\N	EFO	2	EFO	Genetic optic atrophy	Autosomal recessive syndromic optic atrophy
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:98677	"" []	1164639	\N	\N	EFO	3	EFO	Optic neuropathy	Autosomal recessive syndromic optic atrophy
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:98677	"" []	2048524	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal recessive syndromic optic atrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98677	"" []	3198581	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive syndromic optic atrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98677	"" []	3198582	\N	\N	EFO	5	EFO	eye disease	Autosomal recessive syndromic optic atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98677	"" []	4403894	\N	\N	EFO	6	EFO	disease	Autosomal recessive syndromic optic atrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98677	"" []	4403895	\N	\N	EFO	6	EFO	disease	Autosomal recessive syndromic optic atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98677	"" []	5419574	\N	\N	EFO	7	EFO	disposition	Autosomal recessive syndromic optic atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98677	"" []	6153744	\N	\N	EFO	8	EFO	material property	Autosomal recessive syndromic optic atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98677	"" []	6634594	\N	\N	EFO	9	EFO	experimental factor	Autosomal recessive syndromic optic atrophy
Orphanet:98678	\N	\N	"" []	Orphanet:98678	"" []	79008	\N	\N	EFO	0	EFO	X-linked recessive optic atrophy	X-linked recessive optic atrophy
Orphanet:103	Orphanet:98678	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:98678	"" []	223986	\N	\N	EFO	1	EFO	Genetic optic atrophy	X-linked recessive optic atrophy
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:98678	"" []	580703	\N	\N	EFO	2	EFO	Optic neuropathy	X-linked recessive optic atrophy
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:98678	"" []	1164640	\N	\N	EFO	3	EFO	Rare genetic eye disease	X-linked recessive optic atrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98678	"" []	2048525	\N	\N	EFO	4	EFO	genetic disorder	X-linked recessive optic atrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98678	"" []	2048526	\N	\N	EFO	4	EFO	eye disease	X-linked recessive optic atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98678	"" []	3198583	\N	\N	EFO	5	EFO	disease	X-linked recessive optic atrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98678	"" []	3198584	\N	\N	EFO	5	EFO	disease	X-linked recessive optic atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98678	"" []	4403896	\N	\N	EFO	6	EFO	disposition	X-linked recessive optic atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98678	"" []	5419575	\N	\N	EFO	7	EFO	material property	X-linked recessive optic atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98678	"" []	6153745	\N	\N	EFO	8	EFO	experimental factor	X-linked recessive optic atrophy
Orphanet:98681	\N	\N	"" []	Orphanet:98681	"" []	79009	\N	\N	EFO	0	EFO	Rare strabismus and restriction syndrome	Rare strabismus and restriction syndrome
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:98681	"" []	223987	\N	\N	EFO	1	EFO	Genetic neuro-ophthalmological disease	Rare strabismus and restriction syndrome
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98681	"" []	580704	\N	\N	EFO	2	EFO	Rare genetic eye disease	Rare strabismus and restriction syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98681	"" []	1164641	\N	\N	EFO	3	EFO	genetic disorder	Rare strabismus and restriction syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98681	"" []	1164642	\N	\N	EFO	3	EFO	eye disease	Rare strabismus and restriction syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98681	"" []	2048527	\N	\N	EFO	4	EFO	disease	Rare strabismus and restriction syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98681	"" []	2048528	\N	\N	EFO	4	EFO	disease	Rare strabismus and restriction syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98681	"" []	3198585	\N	\N	EFO	5	EFO	disposition	Rare strabismus and restriction syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98681	"" []	4403897	\N	\N	EFO	6	EFO	material property	Rare strabismus and restriction syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98681	"" []	5419576	\N	\N	EFO	7	EFO	experimental factor	Rare strabismus and restriction syndrome
Orphanet:98682	\N	\N	"" []	Orphanet:98682	"" []	79010	\N	\N	EFO	0	EFO	Essential strabismus	Essential strabismus
Orphanet:98681	Orphanet:98682	\N	"" []	Orphanet:98682	"" []	223988	\N	\N	EFO	1	EFO	Rare strabismus and restriction syndrome	Essential strabismus
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:98682	"" []	580705	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Essential strabismus
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98682	"" []	1164643	\N	\N	EFO	3	EFO	Rare genetic eye disease	Essential strabismus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98682	"" []	2048529	\N	\N	EFO	4	EFO	genetic disorder	Essential strabismus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98682	"" []	2048530	\N	\N	EFO	4	EFO	eye disease	Essential strabismus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98682	"" []	3198586	\N	\N	EFO	5	EFO	disease	Essential strabismus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98682	"" []	3198587	\N	\N	EFO	5	EFO	disease	Essential strabismus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98682	"" []	4403898	\N	\N	EFO	6	EFO	disposition	Essential strabismus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98682	"" []	5419577	\N	\N	EFO	7	EFO	material property	Essential strabismus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98682	"" []	6153746	\N	\N	EFO	8	EFO	experimental factor	Essential strabismus
Orphanet:98683	\N	\N	"" []	Orphanet:98683	"" []	79011	\N	\N	EFO	0	EFO	Syndrome with a symptomatic strabismus	Syndrome with a symptomatic strabismus
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:98683	"" []	223989	\N	\N	EFO	1	EFO	Rare strabismus and restriction syndrome	Syndrome with a symptomatic strabismus
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:98683	"" []	580706	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Syndrome with a symptomatic strabismus
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98683	"" []	1164644	\N	\N	EFO	3	EFO	Rare genetic eye disease	Syndrome with a symptomatic strabismus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98683	"" []	2048531	\N	\N	EFO	4	EFO	genetic disorder	Syndrome with a symptomatic strabismus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98683	"" []	2048532	\N	\N	EFO	4	EFO	eye disease	Syndrome with a symptomatic strabismus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98683	"" []	3198588	\N	\N	EFO	5	EFO	disease	Syndrome with a symptomatic strabismus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98683	"" []	3198589	\N	\N	EFO	5	EFO	disease	Syndrome with a symptomatic strabismus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98683	"" []	4403899	\N	\N	EFO	6	EFO	disposition	Syndrome with a symptomatic strabismus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98683	"" []	5419578	\N	\N	EFO	7	EFO	material property	Syndrome with a symptomatic strabismus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98683	"" []	6153747	\N	\N	EFO	8	EFO	experimental factor	Syndrome with a symptomatic strabismus
Orphanet:98684	\N	\N	"" []	Orphanet:98684	"" []	79012	\N	\N	EFO	0	EFO	Craniostenosis associated with a strabismus	Craniostenosis associated with a strabismus
Orphanet:98683	Orphanet:98684	\N	"" []	Orphanet:98684	"" []	223990	\N	\N	EFO	1	EFO	Syndrome with a symptomatic strabismus	Craniostenosis associated with a strabismus
Orphanet:98681	Orphanet:98683	\N	"" []	Orphanet:98684	"" []	580707	\N	\N	EFO	2	EFO	Rare strabismus and restriction syndrome	Craniostenosis associated with a strabismus
Orphanet:183616	Orphanet:98681	\N	"" []	Orphanet:98684	"" []	1164645	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Craniostenosis associated with a strabismus
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98684	"" []	2048533	\N	\N	EFO	4	EFO	Rare genetic eye disease	Craniostenosis associated with a strabismus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98684	"" []	3198590	\N	\N	EFO	5	EFO	genetic disorder	Craniostenosis associated with a strabismus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98684	"" []	3198591	\N	\N	EFO	5	EFO	eye disease	Craniostenosis associated with a strabismus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98684	"" []	4403900	\N	\N	EFO	6	EFO	disease	Craniostenosis associated with a strabismus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98684	"" []	4403901	\N	\N	EFO	6	EFO	disease	Craniostenosis associated with a strabismus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98684	"" []	5419579	\N	\N	EFO	7	EFO	disposition	Craniostenosis associated with a strabismus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98684	"" []	6153748	\N	\N	EFO	8	EFO	material property	Craniostenosis associated with a strabismus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98684	"" []	6634595	\N	\N	EFO	9	EFO	experimental factor	Craniostenosis associated with a strabismus
Orphanet:98685	\N	\N	"" []	Orphanet:98685	"" []	79013	\N	\N	EFO	0	EFO	Oculomotor palsy	Oculomotor palsy
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:98685	"" []	223991	\N	\N	EFO	1	EFO	palsy	Oculomotor palsy
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:98685	"" []	223992	\N	\N	EFO	1	EFO	Genetic neuro-ophthalmological disease	Oculomotor palsy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98685	"" []	580708	\N	\N	EFO	2	EFO	nervous system disease	Oculomotor palsy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98685	"" []	580709	\N	\N	EFO	2	EFO	Rare genetic eye disease	Oculomotor palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98685	"" []	1164646	\N	\N	EFO	3	EFO	disease	Oculomotor palsy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98685	"" []	1164647	\N	\N	EFO	3	EFO	genetic disorder	Oculomotor palsy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98685	"" []	1164648	\N	\N	EFO	3	EFO	eye disease	Oculomotor palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98685	"" []	3198593	\N	\N	EFO	5	EFO	disposition	Oculomotor palsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98685	"" []	2048535	\N	\N	EFO	4	EFO	disease	Oculomotor palsy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98685	"" []	2048536	\N	\N	EFO	4	EFO	disease	Oculomotor palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98685	"" []	4134560	\N	\N	EFO	6	EFO	material property	Oculomotor palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98685	"" []	5183740	\N	\N	EFO	7	EFO	experimental factor	Oculomotor palsy
Orphanet:98686	\N	\N	"" []	Orphanet:98686	"" []	79014	\N	\N	EFO	0	EFO	Congenital trochlear nerve palsy	Congenital trochlear nerve palsy
Orphanet:100932	Orphanet:98686	\N	"" []	Orphanet:98686	"" []	223993	\N	\N	EFO	1	EFO	Nuclear oculomotor paralysis	Congenital trochlear nerve palsy
Orphanet:98685	Orphanet:100932	\N	"" []	Orphanet:98686	"" []	580710	\N	\N	EFO	2	EFO	Oculomotor palsy	Congenital trochlear nerve palsy
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:98686	"" []	1164649	\N	\N	EFO	3	EFO	palsy	Congenital trochlear nerve palsy
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:98686	"" []	1164650	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Congenital trochlear nerve palsy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98686	"" []	2048537	\N	\N	EFO	4	EFO	nervous system disease	Congenital trochlear nerve palsy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98686	"" []	2048538	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital trochlear nerve palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98686	"" []	3198594	\N	\N	EFO	5	EFO	disease	Congenital trochlear nerve palsy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98686	"" []	3198595	\N	\N	EFO	5	EFO	genetic disorder	Congenital trochlear nerve palsy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98686	"" []	3198596	\N	\N	EFO	5	EFO	eye disease	Congenital trochlear nerve palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98686	"" []	5419581	\N	\N	EFO	7	EFO	disposition	Congenital trochlear nerve palsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98686	"" []	4403904	\N	\N	EFO	6	EFO	disease	Congenital trochlear nerve palsy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98686	"" []	4403905	\N	\N	EFO	6	EFO	disease	Congenital trochlear nerve palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98686	"" []	5999060	\N	\N	EFO	8	EFO	material property	Congenital trochlear nerve palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98686	"" []	6552032	\N	\N	EFO	9	EFO	experimental factor	Congenital trochlear nerve palsy
Orphanet:98687	\N	\N	"" []	Orphanet:98687	"" []	79015	\N	\N	EFO	0	EFO	Supranuclear oculomotor palsy	Supranuclear oculomotor palsy
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:98687	"" []	223994	\N	\N	EFO	1	EFO	Oculomotor palsy	Supranuclear oculomotor palsy
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:98687	"" []	580711	\N	\N	EFO	2	EFO	palsy	Supranuclear oculomotor palsy
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:98687	"" []	580712	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Supranuclear oculomotor palsy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98687	"" []	1164651	\N	\N	EFO	3	EFO	nervous system disease	Supranuclear oculomotor palsy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98687	"" []	1164652	\N	\N	EFO	3	EFO	Rare genetic eye disease	Supranuclear oculomotor palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98687	"" []	2048539	\N	\N	EFO	4	EFO	disease	Supranuclear oculomotor palsy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98687	"" []	2048540	\N	\N	EFO	4	EFO	genetic disorder	Supranuclear oculomotor palsy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98687	"" []	2048541	\N	\N	EFO	4	EFO	eye disease	Supranuclear oculomotor palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98687	"" []	4403907	\N	\N	EFO	6	EFO	disposition	Supranuclear oculomotor palsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98687	"" []	3198598	\N	\N	EFO	5	EFO	disease	Supranuclear oculomotor palsy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98687	"" []	3198599	\N	\N	EFO	5	EFO	disease	Supranuclear oculomotor palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98687	"" []	5183741	\N	\N	EFO	7	EFO	material property	Supranuclear oculomotor palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98687	"" []	5999061	\N	\N	EFO	8	EFO	experimental factor	Supranuclear oculomotor palsy
Orphanet:98688	\N	\N	"" []	Orphanet:98688	"" []	79016	\N	\N	EFO	0	EFO	Oculomotor apraxia or related oculomotor disease	Oculomotor apraxia or related oculomotor disease
Orphanet:183616	Orphanet:98688	\N	"" []	Orphanet:98688	"" []	223995	\N	\N	EFO	1	EFO	Genetic neuro-ophthalmological disease	Oculomotor apraxia or related oculomotor disease
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98688	"" []	580713	\N	\N	EFO	2	EFO	Rare genetic eye disease	Oculomotor apraxia or related oculomotor disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98688	"" []	1164653	\N	\N	EFO	3	EFO	genetic disorder	Oculomotor apraxia or related oculomotor disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98688	"" []	1164654	\N	\N	EFO	3	EFO	eye disease	Oculomotor apraxia or related oculomotor disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98688	"" []	2048542	\N	\N	EFO	4	EFO	disease	Oculomotor apraxia or related oculomotor disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98688	"" []	2048543	\N	\N	EFO	4	EFO	disease	Oculomotor apraxia or related oculomotor disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98688	"" []	3198600	\N	\N	EFO	5	EFO	disposition	Oculomotor apraxia or related oculomotor disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98688	"" []	4403908	\N	\N	EFO	6	EFO	material property	Oculomotor apraxia or related oculomotor disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98688	"" []	5419583	\N	\N	EFO	7	EFO	experimental factor	Oculomotor apraxia or related oculomotor disease
Orphanet:98689	\N	\N	"" []	Orphanet:98689	"" []	79017	\N	\N	EFO	0	EFO	Myopathy with eye involvement	Myopathy with eye involvement
Orphanet:183616	Orphanet:98689	\N	"" []	Orphanet:98689	"" []	223996	\N	\N	EFO	1	EFO	Genetic neuro-ophthalmological disease	Myopathy with eye involvement
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98689	"" []	580714	\N	\N	EFO	2	EFO	Rare genetic eye disease	Myopathy with eye involvement
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98689	"" []	1164655	\N	\N	EFO	3	EFO	genetic disorder	Myopathy with eye involvement
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98689	"" []	1164656	\N	\N	EFO	3	EFO	eye disease	Myopathy with eye involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98689	"" []	2048544	\N	\N	EFO	4	EFO	disease	Myopathy with eye involvement
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98689	"" []	2048545	\N	\N	EFO	4	EFO	disease	Myopathy with eye involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98689	"" []	3198601	\N	\N	EFO	5	EFO	disposition	Myopathy with eye involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98689	"" []	4403909	\N	\N	EFO	6	EFO	material property	Myopathy with eye involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98689	"" []	5419584	\N	\N	EFO	7	EFO	experimental factor	Myopathy with eye involvement
Orphanet:98690	\N	\N	"" []	Orphanet:98690	"" []	79018	\N	\N	EFO	0	EFO	Myasthenic syndrome with eye involvement	Myasthenic syndrome with eye involvement
Orphanet:98689	Orphanet:98690	\N	"" []	Orphanet:98690	"" []	223997	\N	\N	EFO	1	EFO	Myopathy with eye involvement	Myasthenic syndrome with eye involvement
Orphanet:183616	Orphanet:98689	\N	"" []	Orphanet:98690	"" []	580715	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Myasthenic syndrome with eye involvement
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98690	"" []	1164657	\N	\N	EFO	3	EFO	Rare genetic eye disease	Myasthenic syndrome with eye involvement
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98690	"" []	2048546	\N	\N	EFO	4	EFO	genetic disorder	Myasthenic syndrome with eye involvement
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98690	"" []	2048547	\N	\N	EFO	4	EFO	eye disease	Myasthenic syndrome with eye involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98690	"" []	3198602	\N	\N	EFO	5	EFO	disease	Myasthenic syndrome with eye involvement
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98690	"" []	3198603	\N	\N	EFO	5	EFO	disease	Myasthenic syndrome with eye involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98690	"" []	4403910	\N	\N	EFO	6	EFO	disposition	Myasthenic syndrome with eye involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98690	"" []	5419585	\N	\N	EFO	7	EFO	material property	Myasthenic syndrome with eye involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98690	"" []	6153750	\N	\N	EFO	8	EFO	experimental factor	Myasthenic syndrome with eye involvement
Orphanet:98691	\N	\N	"" []	Orphanet:98691	"" []	79019	\N	\N	EFO	0	EFO	Abnormal eye movements	Abnormal eye movements
Orphanet:183616	Orphanet:98691	\N	"" []	Orphanet:98691	"" []	223998	\N	\N	EFO	1	EFO	Genetic neuro-ophthalmological disease	Abnormal eye movements
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98691	"" []	580716	\N	\N	EFO	2	EFO	Rare genetic eye disease	Abnormal eye movements
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98691	"" []	1164658	\N	\N	EFO	3	EFO	genetic disorder	Abnormal eye movements
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98691	"" []	1164659	\N	\N	EFO	3	EFO	eye disease	Abnormal eye movements
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98691	"" []	2048548	\N	\N	EFO	4	EFO	disease	Abnormal eye movements
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98691	"" []	2048549	\N	\N	EFO	4	EFO	disease	Abnormal eye movements
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98691	"" []	3198604	\N	\N	EFO	5	EFO	disposition	Abnormal eye movements
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98691	"" []	4403911	\N	\N	EFO	6	EFO	material property	Abnormal eye movements
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98691	"" []	5419586	\N	\N	EFO	7	EFO	experimental factor	Abnormal eye movements
Orphanet:98692	\N	\N	"" []	Orphanet:98692	"" []	79020	\N	\N	EFO	0	EFO	Nervous system anomaly with eye involvement	Nervous system anomaly with eye involvement
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98692	"" []	223999	\N	\N	EFO	1	EFO	Genetic neuro-ophthalmological disease	Nervous system anomaly with eye involvement
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98692	"" []	580717	\N	\N	EFO	2	EFO	Rare genetic eye disease	Nervous system anomaly with eye involvement
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98692	"" []	1164660	\N	\N	EFO	3	EFO	genetic disorder	Nervous system anomaly with eye involvement
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98692	"" []	1164661	\N	\N	EFO	3	EFO	eye disease	Nervous system anomaly with eye involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98692	"" []	2048550	\N	\N	EFO	4	EFO	disease	Nervous system anomaly with eye involvement
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98692	"" []	2048551	\N	\N	EFO	4	EFO	disease	Nervous system anomaly with eye involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98692	"" []	3198605	\N	\N	EFO	5	EFO	disposition	Nervous system anomaly with eye involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98692	"" []	4403912	\N	\N	EFO	6	EFO	material property	Nervous system anomaly with eye involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98692	"" []	5419587	\N	\N	EFO	7	EFO	experimental factor	Nervous system anomaly with eye involvement
Orphanet:98693	\N	\N	"" []	Orphanet:98693	"" []	79021	\N	\N	EFO	0	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia with oculomotor anomaly
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98693	"" []	224000	\N	\N	EFO	1	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia with oculomotor anomaly
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98693	"" []	580718	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia with oculomotor anomaly
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98693	"" []	1164662	\N	\N	EFO	3	EFO	Rare genetic eye disease	Spinocerebellar ataxia with oculomotor anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98693	"" []	2048552	\N	\N	EFO	4	EFO	genetic disorder	Spinocerebellar ataxia with oculomotor anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98693	"" []	2048553	\N	\N	EFO	4	EFO	eye disease	Spinocerebellar ataxia with oculomotor anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98693	"" []	3198606	\N	\N	EFO	5	EFO	disease	Spinocerebellar ataxia with oculomotor anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98693	"" []	3198607	\N	\N	EFO	5	EFO	disease	Spinocerebellar ataxia with oculomotor anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98693	"" []	4403913	\N	\N	EFO	6	EFO	disposition	Spinocerebellar ataxia with oculomotor anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98693	"" []	5419588	\N	\N	EFO	7	EFO	material property	Spinocerebellar ataxia with oculomotor anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98693	"" []	6153751	\N	\N	EFO	8	EFO	experimental factor	Spinocerebellar ataxia with oculomotor anomaly
Orphanet:98694	\N	\N	"" []	Orphanet:98694	"" []	79022	\N	\N	EFO	0	EFO	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
Orphanet:98692	Orphanet:98694	\N	"" []	Orphanet:98694	"" []	224001	\N	\N	EFO	1	EFO	Nervous system anomaly with eye involvement	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98694	"" []	580719	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98694	"" []	1164663	\N	\N	EFO	3	EFO	Rare genetic eye disease	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98694	"" []	2048554	\N	\N	EFO	4	EFO	genetic disorder	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98694	"" []	2048555	\N	\N	EFO	4	EFO	eye disease	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98694	"" []	3198608	\N	\N	EFO	5	EFO	disease	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98694	"" []	3198609	\N	\N	EFO	5	EFO	disease	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98694	"" []	4403914	\N	\N	EFO	6	EFO	disposition	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98694	"" []	5419589	\N	\N	EFO	7	EFO	material property	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98694	"" []	6153752	\N	\N	EFO	8	EFO	experimental factor	Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
Orphanet:98695	\N	\N	"" []	Orphanet:98695	"" []	79023	\N	\N	EFO	0	EFO	Mitochondrial disease with eye involvement	Mitochondrial disease with eye involvement
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:98695	"" []	224002	\N	\N	EFO	1	EFO	Metabolic disease associated with ocular features	Mitochondrial disease with eye involvement
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:98695	"" []	580720	\N	\N	EFO	2	EFO	Rare genetic eye disease	Mitochondrial disease with eye involvement
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98695	"" []	1164664	\N	\N	EFO	3	EFO	genetic disorder	Mitochondrial disease with eye involvement
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98695	"" []	1164665	\N	\N	EFO	3	EFO	eye disease	Mitochondrial disease with eye involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98695	"" []	2048556	\N	\N	EFO	4	EFO	disease	Mitochondrial disease with eye involvement
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98695	"" []	2048557	\N	\N	EFO	4	EFO	disease	Mitochondrial disease with eye involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98695	"" []	3198610	\N	\N	EFO	5	EFO	disposition	Mitochondrial disease with eye involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98695	"" []	4403915	\N	\N	EFO	6	EFO	material property	Mitochondrial disease with eye involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98695	"" []	5419590	\N	\N	EFO	7	EFO	experimental factor	Mitochondrial disease with eye involvement
Orphanet:98696	\N	\N	"" []	Orphanet:98696	"" []	79024	\N	\N	EFO	0	EFO	Genodermatosis with ocular features	Genodermatosis with ocular features
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:98696	"" []	224003	\N	\N	EFO	1	EFO	Rare genetic eye disease	Genodermatosis with ocular features
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98696	"" []	580721	\N	\N	EFO	2	EFO	genetic disorder	Genodermatosis with ocular features
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98696	"" []	580722	\N	\N	EFO	2	EFO	eye disease	Genodermatosis with ocular features
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98696	"" []	1164666	\N	\N	EFO	3	EFO	disease	Genodermatosis with ocular features
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98696	"" []	1164667	\N	\N	EFO	3	EFO	disease	Genodermatosis with ocular features
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98696	"" []	2048558	\N	\N	EFO	4	EFO	disposition	Genodermatosis with ocular features
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98696	"" []	3198611	\N	\N	EFO	5	EFO	material property	Genodermatosis with ocular features
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98696	"" []	4403916	\N	\N	EFO	6	EFO	experimental factor	Genodermatosis with ocular features
Orphanet:98697	\N	\N	"" []	Orphanet:98697	"" []	79025	\N	\N	EFO	0	EFO	Genetic keratinization disorder associated with ocular features	Genetic keratinization disorder associated with ocular features
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:98697	"" []	224004	\N	\N	EFO	1	EFO	Genodermatosis with ocular features	Genetic keratinization disorder associated with ocular features
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:98697	"" []	580723	\N	\N	EFO	2	EFO	Rare genetic eye disease	Genetic keratinization disorder associated with ocular features
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98697	"" []	1164668	\N	\N	EFO	3	EFO	genetic disorder	Genetic keratinization disorder associated with ocular features
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98697	"" []	1164669	\N	\N	EFO	3	EFO	eye disease	Genetic keratinization disorder associated with ocular features
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98697	"" []	2048559	\N	\N	EFO	4	EFO	disease	Genetic keratinization disorder associated with ocular features
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98697	"" []	2048560	\N	\N	EFO	4	EFO	disease	Genetic keratinization disorder associated with ocular features
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98697	"" []	3198612	\N	\N	EFO	5	EFO	disposition	Genetic keratinization disorder associated with ocular features
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98697	"" []	4403917	\N	\N	EFO	6	EFO	material property	Genetic keratinization disorder associated with ocular features
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98697	"" []	5419591	\N	\N	EFO	7	EFO	experimental factor	Genetic keratinization disorder associated with ocular features
Orphanet:98698	\N	\N	"" []	Orphanet:98698	"" []	79026	\N	\N	EFO	0	EFO	Ichthyosis associated with ocular features	Ichthyosis associated with ocular features
Orphanet:98697	Orphanet:98698	\N	"" []	Orphanet:98698	"" []	224005	\N	\N	EFO	1	EFO	Genetic keratinization disorder associated with ocular features	Ichthyosis associated with ocular features
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:98698	"" []	580724	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Ichthyosis associated with ocular features
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:98698	"" []	1164670	\N	\N	EFO	3	EFO	Rare genetic eye disease	Ichthyosis associated with ocular features
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98698	"" []	2048561	\N	\N	EFO	4	EFO	genetic disorder	Ichthyosis associated with ocular features
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98698	"" []	2048562	\N	\N	EFO	4	EFO	eye disease	Ichthyosis associated with ocular features
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98698	"" []	3198613	\N	\N	EFO	5	EFO	disease	Ichthyosis associated with ocular features
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98698	"" []	3198614	\N	\N	EFO	5	EFO	disease	Ichthyosis associated with ocular features
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98698	"" []	4403918	\N	\N	EFO	6	EFO	disposition	Ichthyosis associated with ocular features
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98698	"" []	5419592	\N	\N	EFO	7	EFO	material property	Ichthyosis associated with ocular features
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98698	"" []	6153753	\N	\N	EFO	8	EFO	experimental factor	Ichthyosis associated with ocular features
Orphanet:98699	\N	\N	"" []	Orphanet:98699	"" []	79027	\N	\N	EFO	0	EFO	Syndromic ichthyosis associated with ocular features	Syndromic ichthyosis associated with ocular features
Orphanet:98697	Orphanet:98699	\N	"" []	Orphanet:98699	"" []	224006	\N	\N	EFO	1	EFO	Genetic keratinization disorder associated with ocular features	Syndromic ichthyosis associated with ocular features
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:98699	"" []	580725	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Syndromic ichthyosis associated with ocular features
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:98699	"" []	1164671	\N	\N	EFO	3	EFO	Rare genetic eye disease	Syndromic ichthyosis associated with ocular features
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98699	"" []	2048563	\N	\N	EFO	4	EFO	genetic disorder	Syndromic ichthyosis associated with ocular features
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98699	"" []	2048564	\N	\N	EFO	4	EFO	eye disease	Syndromic ichthyosis associated with ocular features
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98699	"" []	3198615	\N	\N	EFO	5	EFO	disease	Syndromic ichthyosis associated with ocular features
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98699	"" []	3198616	\N	\N	EFO	5	EFO	disease	Syndromic ichthyosis associated with ocular features
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98699	"" []	4403919	\N	\N	EFO	6	EFO	disposition	Syndromic ichthyosis associated with ocular features
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98699	"" []	5419593	\N	\N	EFO	7	EFO	material property	Syndromic ichthyosis associated with ocular features
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98699	"" []	6153754	\N	\N	EFO	8	EFO	experimental factor	Syndromic ichthyosis associated with ocular features
Orphanet:98700	\N	\N	"" []	Orphanet:98700	"" []	79028	\N	\N	EFO	0	EFO	Pigmentation disorder with eye involvement	Pigmentation disorder with eye involvement
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:98700	"" []	224007	\N	\N	EFO	1	EFO	Genodermatosis with ocular features	Pigmentation disorder with eye involvement
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:98700	"" []	580726	\N	\N	EFO	2	EFO	Rare genetic eye disease	Pigmentation disorder with eye involvement
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98700	"" []	1164672	\N	\N	EFO	3	EFO	genetic disorder	Pigmentation disorder with eye involvement
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98700	"" []	1164673	\N	\N	EFO	3	EFO	eye disease	Pigmentation disorder with eye involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98700	"" []	2048565	\N	\N	EFO	4	EFO	disease	Pigmentation disorder with eye involvement
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98700	"" []	2048566	\N	\N	EFO	4	EFO	disease	Pigmentation disorder with eye involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98700	"" []	3198617	\N	\N	EFO	5	EFO	disposition	Pigmentation disorder with eye involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98700	"" []	4403920	\N	\N	EFO	6	EFO	material property	Pigmentation disorder with eye involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98700	"" []	5419594	\N	\N	EFO	7	EFO	experimental factor	Pigmentation disorder with eye involvement
Orphanet:98701	\N	\N	"" []	Orphanet:98701	"" []	79029	\N	\N	EFO	0	EFO	Phakomatosis with eye involvement	Phakomatosis with eye involvement
Orphanet:98696	Orphanet:98701	\N	"" []	Orphanet:98701	"" []	224008	\N	\N	EFO	1	EFO	Genodermatosis with ocular features	Phakomatosis with eye involvement
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:98701	"" []	580727	\N	\N	EFO	2	EFO	Rare genetic eye disease	Phakomatosis with eye involvement
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98701	"" []	1164674	\N	\N	EFO	3	EFO	genetic disorder	Phakomatosis with eye involvement
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98701	"" []	1164675	\N	\N	EFO	3	EFO	eye disease	Phakomatosis with eye involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98701	"" []	2048567	\N	\N	EFO	4	EFO	disease	Phakomatosis with eye involvement
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98701	"" []	2048568	\N	\N	EFO	4	EFO	disease	Phakomatosis with eye involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98701	"" []	3198618	\N	\N	EFO	5	EFO	disposition	Phakomatosis with eye involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98701	"" []	4403921	\N	\N	EFO	6	EFO	material property	Phakomatosis with eye involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98701	"" []	5419595	\N	\N	EFO	7	EFO	experimental factor	Phakomatosis with eye involvement
Orphanet:98702	\N	\N	"" []	Orphanet:98702	"" []	79030	\N	\N	EFO	0	EFO	Connective tissue disease with eye involvement	Connective tissue disease with eye involvement
EFO:1001986	Orphanet:98702	\N	"A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects." []	Orphanet:98702	"" []	224009	\N	\N	EFO	1	EFO	connective tissue disease	Connective tissue disease with eye involvement
Orphanet:101435	Orphanet:98702	\N	"" []	Orphanet:98702	"" []	224010	\N	\N	EFO	1	EFO	Rare genetic eye disease	Connective tissue disease with eye involvement
EFO:0002461	EFO:1001986	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98702	"" []	580728	\N	\N	EFO	2	EFO	skeletal system disease	Connective tissue disease with eye involvement
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98702	"" []	580729	\N	\N	EFO	2	EFO	genetic disorder	Connective tissue disease with eye involvement
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98702	"" []	580730	\N	\N	EFO	2	EFO	eye disease	Connective tissue disease with eye involvement
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98702	"" []	1164676	\N	\N	EFO	3	EFO	disease	Connective tissue disease with eye involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98702	"" []	1164677	\N	\N	EFO	3	EFO	disease	Connective tissue disease with eye involvement
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98702	"" []	1164678	\N	\N	EFO	3	EFO	disease	Connective tissue disease with eye involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98702	"" []	2048569	\N	\N	EFO	4	EFO	disposition	Connective tissue disease with eye involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98702	"" []	3198619	\N	\N	EFO	5	EFO	material property	Connective tissue disease with eye involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98702	"" []	4403922	\N	\N	EFO	6	EFO	experimental factor	Connective tissue disease with eye involvement
Orphanet:98703	\N	\N	"" []	Orphanet:98703	"" []	79031	\N	\N	EFO	0	EFO	Disease with potential neoplastic degeneration associated with ocular features	Disease with potential neoplastic degeneration associated with ocular features
Orphanet:98696	Orphanet:98703	\N	"" []	Orphanet:98703	"" []	224011	\N	\N	EFO	1	EFO	Genodermatosis with ocular features	Disease with potential neoplastic degeneration associated with ocular features
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:98703	"" []	580731	\N	\N	EFO	2	EFO	Rare genetic eye disease	Disease with potential neoplastic degeneration associated with ocular features
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98703	"" []	1164679	\N	\N	EFO	3	EFO	genetic disorder	Disease with potential neoplastic degeneration associated with ocular features
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98703	"" []	1164680	\N	\N	EFO	3	EFO	eye disease	Disease with potential neoplastic degeneration associated with ocular features
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98703	"" []	2048570	\N	\N	EFO	4	EFO	disease	Disease with potential neoplastic degeneration associated with ocular features
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98703	"" []	2048571	\N	\N	EFO	4	EFO	disease	Disease with potential neoplastic degeneration associated with ocular features
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98703	"" []	3198620	\N	\N	EFO	5	EFO	disposition	Disease with potential neoplastic degeneration associated with ocular features
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98703	"" []	4403923	\N	\N	EFO	6	EFO	material property	Disease with potential neoplastic degeneration associated with ocular features
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98703	"" []	5419596	\N	\N	EFO	7	EFO	experimental factor	Disease with potential neoplastic degeneration associated with ocular features
Orphanet:98704	\N	\N	"" []	Orphanet:98704	"" []	79032	\N	\N	EFO	0	EFO	Onycho-patellar syndrome with eye involvement	Onycho-patellar syndrome with eye involvement
Orphanet:98696	Orphanet:98704	\N	"" []	Orphanet:98704	"" []	224012	\N	\N	EFO	1	EFO	Genodermatosis with ocular features	Onycho-patellar syndrome with eye involvement
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:98704	"" []	580732	\N	\N	EFO	2	EFO	Rare genetic eye disease	Onycho-patellar syndrome with eye involvement
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98704	"" []	1164681	\N	\N	EFO	3	EFO	genetic disorder	Onycho-patellar syndrome with eye involvement
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98704	"" []	1164682	\N	\N	EFO	3	EFO	eye disease	Onycho-patellar syndrome with eye involvement
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98704	"" []	2048572	\N	\N	EFO	4	EFO	disease	Onycho-patellar syndrome with eye involvement
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98704	"" []	2048573	\N	\N	EFO	4	EFO	disease	Onycho-patellar syndrome with eye involvement
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98704	"" []	3198621	\N	\N	EFO	5	EFO	disposition	Onycho-patellar syndrome with eye involvement
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98704	"" []	4403924	\N	\N	EFO	6	EFO	material property	Onycho-patellar syndrome with eye involvement
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98704	"" []	5419597	\N	\N	EFO	7	EFO	experimental factor	Onycho-patellar syndrome with eye involvement
Orphanet:98706	\N	\N	"" []	Orphanet:98706	"" []	79033	\N	\N	EFO	0	EFO	Oculocutaneous or ocular albinism	Oculocutaneous or ocular albinism
Orphanet:98700	Orphanet:98706	\N	"" []	Orphanet:98706	"" []	224013	\N	\N	EFO	1	EFO	Pigmentation disorder with eye involvement	Oculocutaneous or ocular albinism
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:98706	"" []	580733	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Oculocutaneous or ocular albinism
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:98706	"" []	1164683	\N	\N	EFO	3	EFO	Rare genetic eye disease	Oculocutaneous or ocular albinism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98706	"" []	2048574	\N	\N	EFO	4	EFO	genetic disorder	Oculocutaneous or ocular albinism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98706	"" []	2048575	\N	\N	EFO	4	EFO	eye disease	Oculocutaneous or ocular albinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98706	"" []	3198622	\N	\N	EFO	5	EFO	disease	Oculocutaneous or ocular albinism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98706	"" []	3198623	\N	\N	EFO	5	EFO	disease	Oculocutaneous or ocular albinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98706	"" []	4403925	\N	\N	EFO	6	EFO	disposition	Oculocutaneous or ocular albinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98706	"" []	5419598	\N	\N	EFO	7	EFO	material property	Oculocutaneous or ocular albinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98706	"" []	6153755	\N	\N	EFO	8	EFO	experimental factor	Oculocutaneous or ocular albinism
Orphanet:98708	\N	\N	"" []	Orphanet:98708	"" []	79034	\N	\N	EFO	0	EFO	Pigmentation disorder with eye involvement, excluding albinism	Pigmentation disorder with eye involvement, excluding albinism
Orphanet:98700	Orphanet:98708	\N	"" []	Orphanet:98708	"" []	224014	\N	\N	EFO	1	EFO	Pigmentation disorder with eye involvement	Pigmentation disorder with eye involvement, excluding albinism
Orphanet:98696	Orphanet:98700	\N	"" []	Orphanet:98708	"" []	580734	\N	\N	EFO	2	EFO	Genodermatosis with ocular features	Pigmentation disorder with eye involvement, excluding albinism
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:98708	"" []	1164684	\N	\N	EFO	3	EFO	Rare genetic eye disease	Pigmentation disorder with eye involvement, excluding albinism
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98708	"" []	2048576	\N	\N	EFO	4	EFO	genetic disorder	Pigmentation disorder with eye involvement, excluding albinism
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98708	"" []	2048577	\N	\N	EFO	4	EFO	eye disease	Pigmentation disorder with eye involvement, excluding albinism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98708	"" []	3198624	\N	\N	EFO	5	EFO	disease	Pigmentation disorder with eye involvement, excluding albinism
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98708	"" []	3198625	\N	\N	EFO	5	EFO	disease	Pigmentation disorder with eye involvement, excluding albinism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98708	"" []	4403926	\N	\N	EFO	6	EFO	disposition	Pigmentation disorder with eye involvement, excluding albinism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98708	"" []	5419599	\N	\N	EFO	7	EFO	material property	Pigmentation disorder with eye involvement, excluding albinism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98708	"" []	6153756	\N	\N	EFO	8	EFO	experimental factor	Pigmentation disorder with eye involvement, excluding albinism
Orphanet:98709	\N	\N	"" []	Orphanet:98709	"" []	79035	\N	\N	EFO	0	EFO	Ectodermal malformation syndrome associated with ocular features	Ectodermal malformation syndrome associated with ocular features
Orphanet:101435	Orphanet:98709	\N	"" []	Orphanet:98709	"" []	224015	\N	\N	EFO	1	EFO	Rare genetic eye disease	Ectodermal malformation syndrome associated with ocular features
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98709	"" []	580735	\N	\N	EFO	2	EFO	genetic disorder	Ectodermal malformation syndrome associated with ocular features
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98709	"" []	580736	\N	\N	EFO	2	EFO	eye disease	Ectodermal malformation syndrome associated with ocular features
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98709	"" []	1164685	\N	\N	EFO	3	EFO	disease	Ectodermal malformation syndrome associated with ocular features
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98709	"" []	1164686	\N	\N	EFO	3	EFO	disease	Ectodermal malformation syndrome associated with ocular features
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98709	"" []	2048578	\N	\N	EFO	4	EFO	disposition	Ectodermal malformation syndrome associated with ocular features
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98709	"" []	3198626	\N	\N	EFO	5	EFO	material property	Ectodermal malformation syndrome associated with ocular features
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98709	"" []	4403927	\N	\N	EFO	6	EFO	experimental factor	Ectodermal malformation syndrome associated with ocular features
Orphanet:98710	\N	\N	"" []	Orphanet:98710	"" []	79036	\N	\N	EFO	0	EFO	Metabolic disease associated with ocular features	Metabolic disease associated with ocular features
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:98710	"" []	224016	\N	\N	EFO	1	EFO	Rare genetic eye disease	Metabolic disease associated with ocular features
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98710	"" []	580737	\N	\N	EFO	2	EFO	genetic disorder	Metabolic disease associated with ocular features
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98710	"" []	580738	\N	\N	EFO	2	EFO	eye disease	Metabolic disease associated with ocular features
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98710	"" []	1164687	\N	\N	EFO	3	EFO	disease	Metabolic disease associated with ocular features
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98710	"" []	1164688	\N	\N	EFO	3	EFO	disease	Metabolic disease associated with ocular features
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98710	"" []	2048579	\N	\N	EFO	4	EFO	disposition	Metabolic disease associated with ocular features
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98710	"" []	3198627	\N	\N	EFO	5	EFO	material property	Metabolic disease associated with ocular features
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98710	"" []	4403928	\N	\N	EFO	6	EFO	experimental factor	Metabolic disease associated with ocular features
Orphanet:98711	\N	\N	"" []	Orphanet:98711	"" []	79037	\N	\N	EFO	0	EFO	Metabolic disease with corneal opacity	Metabolic disease with corneal opacity
Orphanet:98710	Orphanet:98711	\N	"" []	Orphanet:98711	"" []	224017	\N	\N	EFO	1	EFO	Metabolic disease associated with ocular features	Metabolic disease with corneal opacity
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:98711	"" []	580739	\N	\N	EFO	2	EFO	Rare genetic eye disease	Metabolic disease with corneal opacity
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98711	"" []	1164689	\N	\N	EFO	3	EFO	genetic disorder	Metabolic disease with corneal opacity
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98711	"" []	1164690	\N	\N	EFO	3	EFO	eye disease	Metabolic disease with corneal opacity
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98711	"" []	2048580	\N	\N	EFO	4	EFO	disease	Metabolic disease with corneal opacity
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98711	"" []	2048581	\N	\N	EFO	4	EFO	disease	Metabolic disease with corneal opacity
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98711	"" []	3198628	\N	\N	EFO	5	EFO	disposition	Metabolic disease with corneal opacity
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98711	"" []	4403929	\N	\N	EFO	6	EFO	material property	Metabolic disease with corneal opacity
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98711	"" []	5419600	\N	\N	EFO	7	EFO	experimental factor	Metabolic disease with corneal opacity
Orphanet:98712	\N	\N	"" []	Orphanet:98712	"" []	79038	\N	\N	EFO	0	EFO	Metabolic disease with cataract	Metabolic disease with cataract
Orphanet:98710	Orphanet:98712	\N	"" []	Orphanet:98712	"" []	224018	\N	\N	EFO	1	EFO	Metabolic disease associated with ocular features	Metabolic disease with cataract
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:98712	"" []	580740	\N	\N	EFO	2	EFO	Rare genetic eye disease	Metabolic disease with cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98712	"" []	1164691	\N	\N	EFO	3	EFO	genetic disorder	Metabolic disease with cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98712	"" []	1164692	\N	\N	EFO	3	EFO	eye disease	Metabolic disease with cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98712	"" []	2048582	\N	\N	EFO	4	EFO	disease	Metabolic disease with cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98712	"" []	2048583	\N	\N	EFO	4	EFO	disease	Metabolic disease with cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98712	"" []	3198629	\N	\N	EFO	5	EFO	disposition	Metabolic disease with cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98712	"" []	4403930	\N	\N	EFO	6	EFO	material property	Metabolic disease with cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98712	"" []	5419601	\N	\N	EFO	7	EFO	experimental factor	Metabolic disease with cataract
Orphanet:98713	\N	\N	"" []	Orphanet:98713	"" []	79039	\N	\N	EFO	0	EFO	Metabolic disease with pigmentary retinitis	Metabolic disease with pigmentary retinitis
Orphanet:98710	Orphanet:98713	\N	"" []	Orphanet:98713	"" []	224019	\N	\N	EFO	1	EFO	Metabolic disease associated with ocular features	Metabolic disease with pigmentary retinitis
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:98713	"" []	580741	\N	\N	EFO	2	EFO	Rare genetic eye disease	Metabolic disease with pigmentary retinitis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98713	"" []	1164693	\N	\N	EFO	3	EFO	genetic disorder	Metabolic disease with pigmentary retinitis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98713	"" []	1164694	\N	\N	EFO	3	EFO	eye disease	Metabolic disease with pigmentary retinitis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98713	"" []	2048584	\N	\N	EFO	4	EFO	disease	Metabolic disease with pigmentary retinitis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98713	"" []	2048585	\N	\N	EFO	4	EFO	disease	Metabolic disease with pigmentary retinitis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98713	"" []	3198630	\N	\N	EFO	5	EFO	disposition	Metabolic disease with pigmentary retinitis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98713	"" []	4403931	\N	\N	EFO	6	EFO	material property	Metabolic disease with pigmentary retinitis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98713	"" []	5419602	\N	\N	EFO	7	EFO	experimental factor	Metabolic disease with pigmentary retinitis
Orphanet:98714	\N	\N	"" []	Orphanet:98714	"" []	79040	\N	\N	EFO	0	EFO	Metabolic disease with macular cherry-red spot	Metabolic disease with macular cherry-red spot
Orphanet:98710	Orphanet:98714	\N	"" []	Orphanet:98714	"" []	224020	\N	\N	EFO	1	EFO	Metabolic disease associated with ocular features	Metabolic disease with macular cherry-red spot
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:98714	"" []	580742	\N	\N	EFO	2	EFO	Rare genetic eye disease	Metabolic disease with macular cherry-red spot
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98714	"" []	1164695	\N	\N	EFO	3	EFO	genetic disorder	Metabolic disease with macular cherry-red spot
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98714	"" []	1164696	\N	\N	EFO	3	EFO	eye disease	Metabolic disease with macular cherry-red spot
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98714	"" []	2048586	\N	\N	EFO	4	EFO	disease	Metabolic disease with macular cherry-red spot
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98714	"" []	2048587	\N	\N	EFO	4	EFO	disease	Metabolic disease with macular cherry-red spot
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98714	"" []	3198631	\N	\N	EFO	5	EFO	disposition	Metabolic disease with macular cherry-red spot
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98714	"" []	4403932	\N	\N	EFO	6	EFO	material property	Metabolic disease with macular cherry-red spot
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98714	"" []	5419603	\N	\N	EFO	7	EFO	experimental factor	Metabolic disease with macular cherry-red spot
Orphanet:98733	\N	\N	"" []	Orphanet:98733	"" []	79041	\N	\N	EFO	0	EFO	Noonan syndrome and Noonan-related syndrome	Noonan syndrome and Noonan-related syndrome
Orphanet:183570	Orphanet:98733	\N	"" []	Orphanet:98733	"" []	224021	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	Noonan syndrome and Noonan-related syndrome
Orphanet:217595	Orphanet:98733	\N	"" []	Orphanet:98733	"" []	224022	\N	\N	EFO	1	EFO	Syndrome associated with hypertrophic cardiomyopathy	Noonan syndrome and Noonan-related syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:98733	"" []	580743	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Noonan syndrome and Noonan-related syndrome
Orphanet:99739	Orphanet:217595	\N	"" []	Orphanet:98733	"" []	580744	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Noonan syndrome and Noonan-related syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98733	"" []	1164697	\N	\N	EFO	3	EFO	genetic disorder	Noonan syndrome and Noonan-related syndrome
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:98733	"" []	1164698	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Noonan syndrome and Noonan-related syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98733	"" []	3198633	\N	\N	EFO	5	EFO	disease	Noonan syndrome and Noonan-related syndrome
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98733	"" []	2048589	\N	\N	EFO	4	EFO	genetic disorder	Noonan syndrome and Noonan-related syndrome
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98733	"" []	2048590	\N	\N	EFO	4	EFO	heart disease	Noonan syndrome and Noonan-related syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98733	"" []	5419605	\N	\N	EFO	7	EFO	disposition	Noonan syndrome and Noonan-related syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:98733	"" []	3198634	\N	\N	EFO	5	EFO	cardiovascular disease	Noonan syndrome and Noonan-related syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98733	"" []	5877922	\N	\N	EFO	8	EFO	material property	Noonan syndrome and Noonan-related syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98733	"" []	4403934	\N	\N	EFO	6	EFO	disease	Noonan syndrome and Noonan-related syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98733	"" []	6471133	\N	\N	EFO	9	EFO	experimental factor	Noonan syndrome and Noonan-related syndrome
Orphanet:98754	\N	\N	"" []	Orphanet:98754	"" []	79042	\N	\N	EFO	0	EFO	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:739	Orphanet:98754	\N	"" []	Orphanet:98754	"" []	224023	\N	\N	EFO	1	EFO	Prader-Willi syndrome	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:98153	Orphanet:98754	\N	"" []	Orphanet:98754	"" []	224024	\N	\N	EFO	1	EFO	Uniparental disomy of maternal origin	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:181387	Orphanet:739	\N	"" []	Orphanet:98754	"" []	580745	\N	\N	EFO	2	EFO	Rare disorder with hypogonadotropic hypogonadism	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:240371	Orphanet:739	\N	"" []	Orphanet:98754	"" []	580746	\N	\N	EFO	2	EFO	Syndromic obesity	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:330197	Orphanet:739	\N	"" []	Orphanet:98754	"" []	580747	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:399846	Orphanet:739	\N	"" []	Orphanet:98754	"" []	580748	\N	\N	EFO	2	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:98152	Orphanet:98153	\N	"" []	Orphanet:98754	"" []	580749	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:98754	"" []	1164699	\N	\N	EFO	3	EFO	Congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:98754	"" []	1164700	\N	\N	EFO	3	EFO	Genetic obesity	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:98754	"" []	1164701	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:98754	"" []	1164702	\N	\N	EFO	3	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:98754	"" []	1164703	\N	\N	EFO	3	EFO	Autosomal anomaly	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:98754	"" []	2048591	\N	\N	EFO	4	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:98754	"" []	2048592	\N	\N	EFO	4	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:98754	"" []	2048593	\N	\N	EFO	4	EFO	Non-acquired pituitary hormone deficiency	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:98754	"" []	2048594	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:98754	"" []	2048595	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:98754	"" []	2048596	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:98754	"" []	2048597	\N	\N	EFO	4	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98754	"" []	2048598	\N	\N	EFO	4	EFO	Chromosomal anomaly	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:98754	"" []	3198635	\N	\N	EFO	5	EFO	Rare genetic gynecological and obstetrical diseases	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:98754	"" []	3198636	\N	\N	EFO	5	EFO	Rare genetic male infertility	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:98754	"" []	3198637	\N	\N	EFO	5	EFO	Pituitary deficiency	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98754	"" []	6153759	\N	\N	EFO	8	EFO	genetic disorder	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:98754	"" []	6153760	\N	\N	EFO	8	EFO	endocrine system disease	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:98754	"" []	3198640	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98754	"" []	4403941	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:98754	"" []	3198642	\N	\N	EFO	5	EFO	Rare genetic female infertility	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98754	"" []	3198643	\N	\N	EFO	5	EFO	genetic disorder	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98754	"" []	4403935	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:98754	"" []	4403936	\N	\N	EFO	6	EFO	reproductive system disease	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:98754	"" []	4403937	\N	\N	EFO	6	EFO	Genetic infertility	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:98754	"" []	4403938	\N	\N	EFO	6	EFO	Rare genetic hypothalamic or pituitary disease	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98754	"" []	6410455	\N	\N	EFO	9	EFO	disease	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98754	"" []	6410456	\N	\N	EFO	9	EFO	disease	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:98754	"" []	4403942	\N	\N	EFO	6	EFO	Genetic infertility	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98754	"" []	6153758	\N	\N	EFO	8	EFO	disease	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98754	"" []	5419607	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:98754	"" []	5419608	\N	\N	EFO	7	EFO	reproductive system disease	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:98754	"" []	5419609	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98754	"" []	6808256	\N	\N	EFO	10	EFO	disposition	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98754	"" []	7048870	\N	\N	EFO	11	EFO	material property	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98754	"" []	7190268	\N	\N	EFO	12	EFO	experimental factor	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Orphanet:98755	\N	\N	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	79043	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 1	Spinocerebellar ataxia type 1
Orphanet:158266	Orphanet:98755	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	224025	\N	\N	EFO	1	EFO	Huntington disease-like syndrome	Spinocerebellar ataxia type 1
Orphanet:94145	Orphanet:98755	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	224026	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 1
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	580750	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 1
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	580751	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 1
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	5419614	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 1
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	5419615	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 1
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	5419616	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 1
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	1164707	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 1
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	1164708	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 1
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	1164709	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 1
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	5801899	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 1
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	5801900	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	5801901	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 1
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	2048602	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 1
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	2048603	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 1
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	2048604	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	6379027	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	6379028	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 1
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	3198647	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 1
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	3198648	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	6778867	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 1
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	4403944	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 1
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	4403945	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 1
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	4403946	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	7030053	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 1
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	5419612	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 1
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	5419613	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 1
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	5419617	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 1
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	5419618	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	7181839	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 1
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98755	"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." []	6153764	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 1
Orphanet:98756	\N	\N	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	79044	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 2	Spinocerebellar ataxia type 2
Orphanet:158266	Orphanet:98756	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	224027	\N	\N	EFO	1	EFO	Huntington disease-like syndrome	Spinocerebellar ataxia type 2
Orphanet:94145	Orphanet:98756	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	224028	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 2
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	580752	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 2
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	580753	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 2
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	5419622	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 2
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	5419623	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 2
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	5419624	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 2
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	1164713	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 2
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	1164714	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 2
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	1164715	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	5801902	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 2
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	5801903	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	5801904	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 2
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	2048608	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 2
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	2048609	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 2
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	2048610	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	6379029	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	6379030	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 2
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	3198652	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 2
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	3198653	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	6778868	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 2
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	4403948	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 2
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	4403949	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 2
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	4403950	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	7030054	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 2
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	5419620	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 2
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	5419621	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	5419625	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	5419626	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	7181840	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98756	"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." []	6153767	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 2
Orphanet:98757	\N	\N	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	79045	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 3	Spinocerebellar ataxia type 3
Orphanet:158266	Orphanet:98757	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	224029	\N	\N	EFO	1	EFO	Huntington disease-like syndrome	Spinocerebellar ataxia type 3
Orphanet:94145	Orphanet:98757	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	224030	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 3
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	580754	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 3
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	580755	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 3
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	5419630	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 3
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	5419631	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 3
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	5419632	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 3
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	1164719	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 3
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	1164720	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 3
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	1164721	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 3
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	5801905	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 3
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	5801906	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 3
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	5801907	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 3
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	2048614	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 3
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	2048615	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 3
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	2048616	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 3
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	6379031	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 3
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	6379032	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 3
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	3198657	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 3
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	3198658	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 3
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	6778869	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 3
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	4403952	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 3
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	4403953	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 3
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	4403954	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 3
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	7030055	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 3
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	5419628	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 3
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	5419629	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 3
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	5419633	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 3
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	5419634	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 3
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	7181841	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 3
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98757	"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." []	6153770	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 3
Orphanet:98758	\N	\N	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	79046	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 6	Spinocerebellar ataxia type 6
Orphanet:94148	Orphanet:98758	\N	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	224031	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 3	Spinocerebellar ataxia type 6
Orphanet:99	Orphanet:94148	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	580756	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 6
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	1164722	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 6
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	1164723	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 6
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	1164724	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 6
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	2048617	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 6
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	2048618	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 6
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	2048619	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 6
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	6153773	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 6
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	3198660	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 6
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	3198661	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 6
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	6410460	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 6
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	4403956	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 6
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	4403957	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 6
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	4403958	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 6
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	6808260	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 6
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	5419636	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 6
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	5419637	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 6
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	5419638	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 6
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	5419639	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 6
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	5419640	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 6
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	5419641	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 6
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	5419642	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 6
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	7048874	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 6
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	6153772	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 6
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	6153774	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 6
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	6153776	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 6
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	7190269	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 6
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98758	"Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." []	6634598	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 6
Orphanet:98759	\N	\N	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	79047	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 17	Spinocerebellar ataxia type 17
Orphanet:158266	Orphanet:98759	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	224032	\N	\N	EFO	1	EFO	Huntington disease-like syndrome	Spinocerebellar ataxia type 17
Orphanet:307058	Orphanet:98759	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	224033	\N	\N	EFO	1	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Spinocerebellar ataxia type 17
Orphanet:94145	Orphanet:98759	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	224034	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 17
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	580757	\N	\N	EFO	2	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 17
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	580758	\N	\N	EFO	2	EFO	neurodegenerative disease	Spinocerebellar ataxia type 17
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	580759	\N	\N	EFO	2	EFO	Rare genetic movement disorder	Spinocerebellar ataxia type 17
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	580760	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 17
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	5419646	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 17
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	5419647	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 17
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	5419648	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 17
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	5801908	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 17
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	1164729	\N	\N	EFO	3	EFO	movement disorder	Spinocerebellar ataxia type 17
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	1164730	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 17
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	1164731	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 17
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	1164732	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 17
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	1164733	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 17
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	5801909	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 17
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	5801910	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 17
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	6370846	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 17
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	2048624	\N	\N	EFO	4	EFO	nervous system disease	Spinocerebellar ataxia type 17
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	2048625	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 17
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	2048626	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 17
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	2048627	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 17
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	6379033	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 17
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	6762411	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 17
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	3198665	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 17
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	3198666	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 17
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	7015724	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 17
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	4403960	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 17
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	4403961	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 17
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	4403962	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 17
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	7173669	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 17
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	5419644	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 17
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	5419645	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 17
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	5419649	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 17
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	5419650	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 17
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98759	"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." []	6153778	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 17
Orphanet:98760	\N	\N	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	79048	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 8	Spinocerebellar ataxia type 8
Orphanet:94145	Orphanet:98760	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	224035	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 8
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	580761	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 8
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	1164734	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 8
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	1164735	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 8
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	1164736	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 8
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	2048628	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 8
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	2048629	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 8
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	2048630	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 8
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	6153781	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 8
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	3198668	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 8
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	3198669	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 8
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	6410462	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 8
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	4403964	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 8
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	4403965	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 8
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	4403966	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 8
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	6808261	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 8
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	5419652	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 8
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	5419653	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 8
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	5419654	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 8
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	5419655	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 8
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	5419656	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 8
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	5419657	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 8
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	5419658	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 8
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	7048875	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 8
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	6153780	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 8
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	6153782	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 8
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	6153784	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 8
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	7190270	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 8
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98760	"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." []	6634600	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 8
Orphanet:98761	\N	\N	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	79049	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 10	Spinocerebellar ataxia type 10
Orphanet:94149	Orphanet:98761	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	224036	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 4	Spinocerebellar ataxia type 10
Orphanet:99	Orphanet:94149	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	580762	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 10
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	1164737	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 10
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	1164738	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 10
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	1164739	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 10
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	2048631	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 10
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	2048632	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 10
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	2048633	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 10
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	6153787	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 10
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	3198671	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 10
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	3198672	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 10
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	6410463	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 10
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	4403968	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 10
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	4403969	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 10
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	4403970	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 10
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	6808262	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 10
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	5419660	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 10
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	5419661	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 10
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	5419662	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 10
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	5419663	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 10
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	5419664	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 10
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	5419665	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 10
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	5419666	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 10
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	7048876	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 10
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	6153786	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 10
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	6153788	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 10
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	6153790	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 10
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	7190271	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 10
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98761	"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." []	6634602	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 10
Orphanet:98762	\N	\N	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	79050	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 12	Spinocerebellar ataxia type 12
Orphanet:94145	Orphanet:98762	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	224037	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 12
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	580763	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 12
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	1164740	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 12
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	1164741	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 12
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	1164742	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 12
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	2048634	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 12
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	2048635	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 12
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	2048636	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 12
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	6153793	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 12
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	3198674	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 12
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	3198675	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 12
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	6410464	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 12
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	4403972	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 12
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	4403973	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 12
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	4403974	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 12
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	6808263	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 12
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	5419668	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 12
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	5419669	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 12
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	5419670	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 12
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	5419671	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 12
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	5419672	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 12
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	5419673	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 12
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	5419674	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 12
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	7048877	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 12
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	6153792	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 12
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	6153794	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 12
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	6153796	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 12
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	7190272	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 12
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98762	"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." []	6634604	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 12
Orphanet:98763	\N	\N	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	79051	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 14	Spinocerebellar ataxia type 14
Orphanet:94145	Orphanet:98763	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	224038	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 14
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	580764	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 14
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	1164743	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 14
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	1164744	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 14
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	1164745	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 14
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	2048637	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 14
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	2048638	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 14
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	2048639	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 14
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	6153799	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 14
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	3198677	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 14
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	3198678	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 14
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	6410465	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 14
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	4403976	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 14
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	4403977	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 14
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	4403978	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 14
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	6808264	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 14
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	5419676	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 14
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	5419677	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 14
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	5419678	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 14
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	5419679	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 14
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	5419680	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 14
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	5419681	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 14
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	5419682	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 14
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	7048878	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 14
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	6153798	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 14
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	6153800	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 14
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	6153802	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 14
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	7190273	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 14
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98763	"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." []	6634606	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 14
Orphanet:98764	\N	\N	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	79052	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 27	Spinocerebellar ataxia type 27
Orphanet:94145	Orphanet:98764	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	224039	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 27
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	580765	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 27
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	1164746	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 27
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	1164747	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 27
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	1164748	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 27
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	2048640	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 27
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	2048641	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 27
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	2048642	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 27
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	6153805	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 27
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	3198680	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 27
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	3198681	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 27
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	6410466	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 27
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	4403980	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 27
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	4403981	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 27
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	4403982	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 27
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	6808265	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 27
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	5419684	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 27
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	5419685	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 27
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	5419686	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 27
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	5419687	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 27
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	5419688	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 27
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	5419689	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 27
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	5419690	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 27
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	7048879	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 27
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	6153804	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 27
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	6153806	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 27
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	6153808	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 27
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	7190274	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 27
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98764	"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." []	6634608	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 27
Orphanet:98765	\N	\N	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	79053	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 4	Spinocerebellar ataxia type 4
Orphanet:94145	Orphanet:98765	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	224040	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 4
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	580766	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 4
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	1164749	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 4
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	1164750	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 4
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	1164751	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 4
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	2048643	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 4
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	2048644	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 4
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	2048645	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 4
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	6153811	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 4
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	3198683	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 4
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	3198684	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 4
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	6410467	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 4
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	4403984	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 4
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	4403985	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 4
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	4403986	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 4
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	6808266	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 4
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	5419692	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 4
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	5419693	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 4
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	5419694	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 4
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	5419695	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 4
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	5419696	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 4
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	5419697	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 4
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	5419698	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 4
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	7048880	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 4
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	6153810	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 4
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	6153812	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 4
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	6153814	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 4
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	7190275	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 4
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98765	"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." []	6634610	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 4
Orphanet:98766	\N	\N	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	79054	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 5	Spinocerebellar ataxia type 5
Orphanet:94148	Orphanet:98766	\N	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	224041	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 3	Spinocerebellar ataxia type 5
Orphanet:99	Orphanet:94148	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	580767	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 5
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	1164752	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 5
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	1164753	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 5
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	1164754	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 5
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	2048646	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 5
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	2048647	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 5
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	2048648	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 5
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	6153817	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 5
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	3198686	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 5
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	3198687	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	6410468	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 5
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	4403988	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 5
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	4403989	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 5
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	4403990	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	6808267	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 5
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	5419700	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 5
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	5419701	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 5
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	5419702	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 5
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	5419703	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 5
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	5419704	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 5
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	5419705	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 5
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	5419706	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	7048881	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 5
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	6153816	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 5
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	6153818	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 5
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	6153820	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	7190276	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 5
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98766	"Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." []	6634612	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 5
Orphanet:98767	\N	\N	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	79055	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 11	Spinocerebellar ataxia type 11
Orphanet:94148	Orphanet:98767	\N	"Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	224042	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 3	Spinocerebellar ataxia type 11
Orphanet:99	Orphanet:94148	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	580768	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 11
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	1164755	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 11
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	1164756	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 11
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	1164757	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 11
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	2048649	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 11
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	2048650	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 11
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	2048651	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 11
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	6153823	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 11
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	3198689	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 11
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	3198690	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 11
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	6410469	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 11
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	4403992	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 11
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	4403993	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 11
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	4403994	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 11
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	6808268	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 11
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	5419708	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 11
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	5419709	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 11
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	5419710	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 11
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	5419711	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 11
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	5419712	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 11
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	5419713	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 11
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	5419714	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 11
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	7048882	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 11
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	6153822	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 11
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	6153824	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 11
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	6153826	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 11
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	7190277	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 11
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98767	"Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." []	6634614	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 11
Orphanet:98768	\N	\N	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	79056	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 13	Spinocerebellar ataxia type 13
Orphanet:94145	Orphanet:98768	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	224043	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 13
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	580769	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 13
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	1164758	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 13
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	1164759	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 13
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	1164760	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 13
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	2048652	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 13
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	2048653	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 13
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	2048654	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 13
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	6153829	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 13
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	3198692	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 13
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	3198693	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 13
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	6410470	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 13
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	4403996	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 13
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	4403997	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 13
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	4403998	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 13
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	6808269	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 13
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	5419716	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 13
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	5419717	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 13
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	5419718	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 13
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	5419719	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 13
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	5419720	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 13
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	5419721	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 13
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	5419722	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 13
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	7048883	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 13
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	6153828	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 13
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	6153830	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 13
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	6153832	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 13
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	7190278	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 13
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98768	"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." []	6634616	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 13
Orphanet:98769	\N	\N	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	79057	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 15/16	Spinocerebellar ataxia type 15/16
Orphanet:94145	Orphanet:98769	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	224044	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 15/16
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	580770	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 15/16
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	1164761	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 15/16
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	1164762	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 15/16
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	1164763	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 15/16
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	2048655	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 15/16
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	2048656	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 15/16
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	2048657	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 15/16
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	6153835	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 15/16
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	3198695	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 15/16
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	3198696	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 15/16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	6410471	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 15/16
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	4404000	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 15/16
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	4404001	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 15/16
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	4404002	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 15/16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	6808270	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 15/16
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	5419724	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 15/16
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	5419725	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 15/16
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	5419726	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 15/16
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	5419727	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 15/16
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	5419728	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 15/16
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	5419729	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 15/16
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	5419730	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 15/16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	7048884	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 15/16
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	6153834	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 15/16
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	6153836	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 15/16
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	6153838	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 15/16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	7190279	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 15/16
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98769	"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." []	6634618	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 15/16
Orphanet:98771	\N	\N	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	79058	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 18	Spinocerebellar ataxia type 18
Orphanet:94145	Orphanet:98771	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	224045	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 18
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	580771	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 18
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	1164764	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 18
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	1164765	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 18
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	1164766	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 18
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	2048658	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 18
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	2048659	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 18
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	2048660	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 18
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	6153841	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 18
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	3198698	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 18
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	3198699	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 18
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	6410472	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 18
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	4404004	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 18
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	4404005	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 18
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	4404006	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 18
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	6808271	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 18
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	5419732	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 18
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	5419733	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 18
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	5419734	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 18
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	5419735	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 18
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	5419736	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 18
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	5419737	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 18
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	5419738	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 18
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	7048885	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 18
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	6153840	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 18
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	6153842	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 18
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	6153844	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 18
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	7190280	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 18
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98771	"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." []	6634620	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 18
Orphanet:98772	\N	\N	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	79059	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 19/22	Spinocerebellar ataxia type 19/22
Orphanet:94145	Orphanet:98772	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	224046	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 19/22
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	580772	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 19/22
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	1164767	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 19/22
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	1164768	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 19/22
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	1164769	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 19/22
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	2048661	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 19/22
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	2048662	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 19/22
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	2048663	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 19/22
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	6153847	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 19/22
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	3198701	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 19/22
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	3198702	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 19/22
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	6410473	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 19/22
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	4404008	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 19/22
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	4404009	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 19/22
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	4404010	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 19/22
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	6808272	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 19/22
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	5419740	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 19/22
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	5419741	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 19/22
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	5419742	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 19/22
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	5419743	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 19/22
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	5419744	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 19/22
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	5419745	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 19/22
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	5419746	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 19/22
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	7048886	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 19/22
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	6153846	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 19/22
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	6153848	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 19/22
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	6153850	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 19/22
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	7190281	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 19/22
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98772	"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." []	6634622	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 19/22
Orphanet:98773	\N	\N	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	79060	\N	\N	EFO	0	EFO	Spinocerebellar ataxia type 21	Spinocerebellar ataxia type 21
Orphanet:94145	Orphanet:98773	\N	"Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	224047	\N	\N	EFO	1	EFO	Autosomal dominant cerebellar ataxia type 1	Spinocerebellar ataxia type 21
Orphanet:99	Orphanet:94145	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	580773	\N	\N	EFO	2	EFO	Autosomal dominant cerebellar ataxia	Spinocerebellar ataxia type 21
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	1164770	\N	\N	EFO	3	EFO	Rare hereditary ataxia	Spinocerebellar ataxia type 21
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	1164771	\N	\N	EFO	3	EFO	Late-onset ataxia with dementia	Spinocerebellar ataxia type 21
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	1164772	\N	\N	EFO	3	EFO	Spinocerebellar ataxia with oculomotor anomaly	Spinocerebellar ataxia type 21
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	2048664	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 21
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	2048665	\N	\N	EFO	4	EFO	Ataxia with dementia	Spinocerebellar ataxia type 21
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	2048666	\N	\N	EFO	4	EFO	Nervous system anomaly with eye involvement	Spinocerebellar ataxia type 21
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	6153853	\N	\N	EFO	8	EFO	genetic disorder	Spinocerebellar ataxia type 21
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	3198704	\N	\N	EFO	5	EFO	Genetic neurodegenerative disease with dementia	Spinocerebellar ataxia type 21
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	3198705	\N	\N	EFO	5	EFO	Genetic neuro-ophthalmological disease	Spinocerebellar ataxia type 21
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	6410474	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 21
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	4404012	\N	\N	EFO	6	EFO	Genetic dementia	Spinocerebellar ataxia type 21
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	4404013	\N	\N	EFO	6	EFO	Genetic neurodegenerative disease	Spinocerebellar ataxia type 21
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	4404014	\N	\N	EFO	6	EFO	Rare genetic eye disease	Spinocerebellar ataxia type 21
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	6808273	\N	\N	EFO	10	EFO	disposition	Spinocerebellar ataxia type 21
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	5419748	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 21
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	5419749	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 21
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	5419750	\N	\N	EFO	7	EFO	neurodegenerative disease	Spinocerebellar ataxia type 21
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	5419751	\N	\N	EFO	7	EFO	brain disease	Spinocerebellar ataxia type 21
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	5419752	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Spinocerebellar ataxia type 21
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	5419753	\N	\N	EFO	7	EFO	genetic disorder	Spinocerebellar ataxia type 21
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	5419754	\N	\N	EFO	7	EFO	eye disease	Spinocerebellar ataxia type 21
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	7048887	\N	\N	EFO	11	EFO	material property	Spinocerebellar ataxia type 21
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	6153852	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 21
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	6153854	\N	\N	EFO	8	EFO	nervous system disease	Spinocerebellar ataxia type 21
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	6153856	\N	\N	EFO	8	EFO	disease	Spinocerebellar ataxia type 21
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	7190282	\N	\N	EFO	12	EFO	experimental factor	Spinocerebellar ataxia type 21
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98773	"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." []	6634624	\N	\N	EFO	9	EFO	disease	Spinocerebellar ataxia type 21
Orphanet:98784	\N	\N	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	79061	\N	\N	EFO	0	EFO	Autosomal dominant nocturnal frontal lobe epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:309	Orphanet:98784	\N	"" []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	224048	\N	\N	EFO	1	EFO	Familial partial epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	580774	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	580775	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	580776	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	580777	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	1164773	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	1164774	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	1164775	\N	\N	EFO	3	EFO	Epilepsy syndrome	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	1164776	\N	\N	EFO	3	EFO	Epilepsy syndrome	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	3198707	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	2048668	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	2048669	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	4134567	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant nocturnal frontal lobe epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	5183749	\N	\N	EFO	7	EFO	disease	Autosomal dominant nocturnal frontal lobe epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	5999068	\N	\N	EFO	8	EFO	disposition	Autosomal dominant nocturnal frontal lobe epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	6552037	\N	\N	EFO	9	EFO	material property	Autosomal dominant nocturnal frontal lobe epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98784	"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." []	6889632	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant nocturnal frontal lobe epilepsy
Orphanet:98791	\N	\N	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	79062	\N	\N	EFO	0	EFO	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:183763	Orphanet:98791	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	224049	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:232288	Orphanet:98791	\N	"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	224050	\N	\N	EFO	1	EFO	Alpha-thalassemia-related diseases	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:261956	Orphanet:98791	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	224051	\N	\N	EFO	1	EFO	Partial deletion of the short arm of chromosome 16	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	580778	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:275745	Orphanet:232288	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	580779	\N	\N	EFO	2	EFO	Alpha-thalassemia and related diseases	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:261826	Orphanet:261956	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	580780	\N	\N	EFO	2	EFO	Partial deletion of chromosome 16	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	1164777	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
EFO:1001996	Orphanet:275745	\N	"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	1164778	\N	\N	EFO	3	EFO	Thalassemia	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:98142	Orphanet:261826	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	1164779	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	2048670	\N	\N	EFO	4	EFO	genetic disorder	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:68364	EFO:1001996	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	2048671	\N	\N	EFO	4	EFO	Hemoglobinopathy	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	2048672	\N	\N	EFO	4	EFO	Autosomal monosomy	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	6153859	\N	\N	EFO	8	EFO	disease	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:183651	Orphanet:68364	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	3198709	\N	\N	EFO	5	EFO	Rare constitutional anemia	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	3198710	\N	\N	EFO	5	EFO	Autosomal anomaly	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	6410475	\N	\N	EFO	9	EFO	disposition	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	4404017	\N	\N	EFO	6	EFO	Rare genetic hematologic disease	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	4404018	\N	\N	EFO	6	EFO	Chromosomal anomaly	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	6808274	\N	\N	EFO	10	EFO	material property	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	5419757	\N	\N	EFO	7	EFO	genetic disorder	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	5419758	\N	\N	EFO	7	EFO	hematological system disease	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	5419759	\N	\N	EFO	7	EFO	genetic disorder	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	7048888	\N	\N	EFO	11	EFO	experimental factor	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98791	"Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." []	6153860	\N	\N	EFO	8	EFO	disease	Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Orphanet:98793	\N	\N	"" []	Orphanet:98793	"" []	79063	\N	\N	EFO	0	EFO	Prader-Willi syndrome due to paternal 15q11q13 deletion	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:262119	Orphanet:98793	\N	"" []	Orphanet:98793	"" []	224052	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 15	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:739	Orphanet:98793	\N	"" []	Orphanet:98793	"" []	224053	\N	\N	EFO	1	EFO	Prader-Willi syndrome	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:98142	Orphanet:262119	\N	"" []	Orphanet:98793	"" []	580781	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:181387	Orphanet:739	\N	"" []	Orphanet:98793	"" []	580782	\N	\N	EFO	2	EFO	Rare disorder with hypogonadotropic hypogonadism	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:240371	Orphanet:739	\N	"" []	Orphanet:98793	"" []	580783	\N	\N	EFO	2	EFO	Syndromic obesity	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:330197	Orphanet:739	\N	"" []	Orphanet:98793	"" []	580784	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:399846	Orphanet:739	\N	"" []	Orphanet:98793	"" []	580785	\N	\N	EFO	2	EFO	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:98793	"" []	1164780	\N	\N	EFO	3	EFO	Autosomal monosomy	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:174590	Orphanet:181387	\N	"" []	Orphanet:98793	"" []	1164781	\N	\N	EFO	3	EFO	Congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:77828	Orphanet:240371	\N	"" []	Orphanet:98793	"" []	1164782	\N	\N	EFO	3	EFO	Genetic obesity	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:98793	"" []	1164783	\N	\N	EFO	3	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:399839	Orphanet:399846	\N	"" []	Orphanet:98793	"" []	1164784	\N	\N	EFO	3	EFO	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:98793	"" []	2048673	\N	\N	EFO	4	EFO	Autosomal anomaly	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:202940	Orphanet:174590	\N	"" []	Orphanet:98793	"" []	2048674	\N	\N	EFO	4	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:399983	Orphanet:174590	\N	"" []	Orphanet:98793	"" []	2048675	\N	\N	EFO	4	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:95488	Orphanet:174590	\N	"" []	Orphanet:98793	"" []	2048676	\N	\N	EFO	4	EFO	Non-acquired pituitary hormone deficiency	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:156638	Orphanet:77828	\N	"" []	Orphanet:98793	"" []	2048677	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:183573	Orphanet:77828	\N	"" []	Orphanet:98793	"" []	2048678	\N	\N	EFO	4	EFO	Genetic overgrowth/obesity syndrome	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:98793	"" []	2048679	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:400011	Orphanet:399839	\N	"" []	Orphanet:98793	"" []	2048680	\N	\N	EFO	4	EFO	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98793	"" []	3198711	\N	\N	EFO	5	EFO	Chromosomal anomaly	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:98793	"" []	3198712	\N	\N	EFO	5	EFO	Rare genetic gynecological and obstetrical diseases	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:98793	"" []	3198713	\N	\N	EFO	5	EFO	Rare genetic male infertility	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:101957	Orphanet:95488	\N	"" []	Orphanet:98793	"" []	3198714	\N	\N	EFO	5	EFO	Pituitary deficiency	Prader-Willi syndrome due to paternal 15q11q13 deletion
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98793	"" []	6153863	\N	\N	EFO	8	EFO	genetic disorder	Prader-Willi syndrome due to paternal 15q11q13 deletion
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:98793	"" []	6153864	\N	\N	EFO	8	EFO	endocrine system disease	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:183530	Orphanet:183573	\N	"" []	Orphanet:98793	"" []	3198717	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Prader-Willi syndrome due to paternal 15q11q13 deletion
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98793	"" []	4404026	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:400008	Orphanet:400011	\N	"" []	Orphanet:98793	"" []	3198719	\N	\N	EFO	5	EFO	Rare genetic female infertility	Prader-Willi syndrome due to paternal 15q11q13 deletion
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98793	"" []	4404019	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi syndrome due to paternal 15q11q13 deletion
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98793	"" []	4404020	\N	\N	EFO	6	EFO	genetic disorder	Prader-Willi syndrome due to paternal 15q11q13 deletion
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:98793	"" []	4404021	\N	\N	EFO	6	EFO	reproductive system disease	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:98793	"" []	4404022	\N	\N	EFO	6	EFO	Genetic infertility	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:183628	Orphanet:101957	\N	"" []	Orphanet:98793	"" []	4404023	\N	\N	EFO	6	EFO	Rare genetic hypothalamic or pituitary disease	Prader-Willi syndrome due to paternal 15q11q13 deletion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98793	"" []	6410476	\N	\N	EFO	9	EFO	disease	Prader-Willi syndrome due to paternal 15q11q13 deletion
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98793	"" []	6410477	\N	\N	EFO	9	EFO	disease	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:98793	"" []	4404027	\N	\N	EFO	6	EFO	Genetic infertility	Prader-Willi syndrome due to paternal 15q11q13 deletion
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98793	"" []	6153862	\N	\N	EFO	8	EFO	disease	Prader-Willi syndrome due to paternal 15q11q13 deletion
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98793	"" []	5419761	\N	\N	EFO	7	EFO	genetic disorder	Prader-Willi syndrome due to paternal 15q11q13 deletion
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:98793	"" []	5419762	\N	\N	EFO	7	EFO	reproductive system disease	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:156638	Orphanet:183628	\N	"" []	Orphanet:98793	"" []	5419763	\N	\N	EFO	7	EFO	Rare genetic endocrine disease	Prader-Willi syndrome due to paternal 15q11q13 deletion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98793	"" []	6808275	\N	\N	EFO	10	EFO	disposition	Prader-Willi syndrome due to paternal 15q11q13 deletion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98793	"" []	7048889	\N	\N	EFO	11	EFO	material property	Prader-Willi syndrome due to paternal 15q11q13 deletion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98793	"" []	7190283	\N	\N	EFO	12	EFO	experimental factor	Prader-Willi syndrome due to paternal 15q11q13 deletion
Orphanet:98794	\N	\N	"" []	Orphanet:98794	"" []	79064	\N	\N	EFO	0	EFO	Angelman syndrome due to maternal 15q11q13 deletion	Angelman syndrome due to maternal 15q11q13 deletion
Orphanet:262119	Orphanet:98794	\N	"" []	Orphanet:98794	"" []	224054	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 15	Angelman syndrome due to maternal 15q11q13 deletion
Orphanet:72	Orphanet:98794	\N	"Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." []	Orphanet:98794	"" []	224055	\N	\N	EFO	1	EFO	Angelman syndrome	Angelman syndrome due to maternal 15q11q13 deletion
Orphanet:98142	Orphanet:262119	\N	"" []	Orphanet:98794	"" []	580786	\N	\N	EFO	2	EFO	Partial autosomal monosomy	Angelman syndrome due to maternal 15q11q13 deletion
Orphanet:183763	Orphanet:72	\N	"" []	Orphanet:98794	"" []	580787	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Angelman syndrome due to maternal 15q11q13 deletion
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:98794	"" []	1164785	\N	\N	EFO	3	EFO	Autosomal monosomy	Angelman syndrome due to maternal 15q11q13 deletion
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:98794	"" []	1164786	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Angelman syndrome due to maternal 15q11q13 deletion
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:98794	"" []	2048681	\N	\N	EFO	4	EFO	Autosomal anomaly	Angelman syndrome due to maternal 15q11q13 deletion
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:98794	"" []	2048682	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Angelman syndrome due to maternal 15q11q13 deletion
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98794	"" []	3198720	\N	\N	EFO	5	EFO	Chromosomal anomaly	Angelman syndrome due to maternal 15q11q13 deletion
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98794	"" []	3198721	\N	\N	EFO	5	EFO	genetic disorder	Angelman syndrome due to maternal 15q11q13 deletion
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98794	"" []	4404028	\N	\N	EFO	6	EFO	genetic disorder	Angelman syndrome due to maternal 15q11q13 deletion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98794	"" []	5419765	\N	\N	EFO	7	EFO	disease	Angelman syndrome due to maternal 15q11q13 deletion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98794	"" []	5999070	\N	\N	EFO	8	EFO	disposition	Angelman syndrome due to maternal 15q11q13 deletion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98794	"" []	6552039	\N	\N	EFO	9	EFO	material property	Angelman syndrome due to maternal 15q11q13 deletion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98794	"" []	6889634	\N	\N	EFO	10	EFO	experimental factor	Angelman syndrome due to maternal 15q11q13 deletion
Orphanet:98795	\N	\N	"" []	Orphanet:98795	"" []	79065	\N	\N	EFO	0	EFO	Angelman syndrome due to paternal uniparental disomy of chromosome 15	Angelman syndrome due to paternal uniparental disomy of chromosome 15
Orphanet:72	Orphanet:98795	\N	"Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." []	Orphanet:98795	"" []	224056	\N	\N	EFO	1	EFO	Angelman syndrome	Angelman syndrome due to paternal uniparental disomy of chromosome 15
Orphanet:98154	Orphanet:98795	\N	"" []	Orphanet:98795	"" []	224057	\N	\N	EFO	1	EFO	Uniparental disomy of paternal origin	Angelman syndrome due to paternal uniparental disomy of chromosome 15
Orphanet:183763	Orphanet:72	\N	"" []	Orphanet:98795	"" []	580788	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Angelman syndrome due to paternal uniparental disomy of chromosome 15
Orphanet:98152	Orphanet:98154	\N	"" []	Orphanet:98795	"" []	580789	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Angelman syndrome due to paternal uniparental disomy of chromosome 15
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:98795	"" []	1164787	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Angelman syndrome due to paternal uniparental disomy of chromosome 15
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:98795	"" []	1164788	\N	\N	EFO	3	EFO	Autosomal anomaly	Angelman syndrome due to paternal uniparental disomy of chromosome 15
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:98795	"" []	2048683	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Angelman syndrome due to paternal uniparental disomy of chromosome 15
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:98795	"" []	2048684	\N	\N	EFO	4	EFO	Chromosomal anomaly	Angelman syndrome due to paternal uniparental disomy of chromosome 15
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98795	"" []	3198722	\N	\N	EFO	5	EFO	genetic disorder	Angelman syndrome due to paternal uniparental disomy of chromosome 15
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98795	"" []	3198723	\N	\N	EFO	5	EFO	genetic disorder	Angelman syndrome due to paternal uniparental disomy of chromosome 15
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98795	"" []	4404030	\N	\N	EFO	6	EFO	disease	Angelman syndrome due to paternal uniparental disomy of chromosome 15
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98795	"" []	5419767	\N	\N	EFO	7	EFO	disposition	Angelman syndrome due to paternal uniparental disomy of chromosome 15
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98795	"" []	6153867	\N	\N	EFO	8	EFO	material property	Angelman syndrome due to paternal uniparental disomy of chromosome 15
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98795	"" []	6634628	\N	\N	EFO	9	EFO	experimental factor	Angelman syndrome due to paternal uniparental disomy of chromosome 15
Orphanet:98797	\N	\N	"" []	Orphanet:98797	"" []	79066	\N	\N	EFO	0	EFO	Isochromosomy Yp	Isochromosomy Yp
Orphanet:96325	Orphanet:98797	\N	"" []	Orphanet:98797	"" []	224058	\N	\N	EFO	1	EFO	Isochromosome Y	Isochromosomy Yp
Orphanet:98158	Orphanet:96325	\N	"" []	Orphanet:98797	"" []	580790	\N	\N	EFO	2	EFO	Chromosome Y structural anomaly	Isochromosomy Yp
Orphanet:98157	Orphanet:98158	\N	"" []	Orphanet:98797	"" []	1164789	\N	\N	EFO	3	EFO	Gonosome structural anomaly	Isochromosomy Yp
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:98797	"" []	2048685	\N	\N	EFO	4	EFO	Gonosome anomaly	Isochromosomy Yp
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:98797	"" []	3198724	\N	\N	EFO	5	EFO	Chromosomal anomaly	Isochromosomy Yp
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98797	"" []	4404031	\N	\N	EFO	6	EFO	genetic disorder	Isochromosomy Yp
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98797	"" []	5419768	\N	\N	EFO	7	EFO	disease	Isochromosomy Yp
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98797	"" []	6153868	\N	\N	EFO	8	EFO	disposition	Isochromosomy Yp
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98797	"" []	6634629	\N	\N	EFO	9	EFO	material property	Isochromosomy Yp
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98797	"" []	6926408	\N	\N	EFO	10	EFO	experimental factor	Isochromosomy Yp
Orphanet:98798	\N	\N	"" []	Orphanet:98798	"" []	79067	\N	\N	EFO	0	EFO	Isochromosomy Yq	Isochromosomy Yq
Orphanet:96325	Orphanet:98798	\N	"" []	Orphanet:98798	"" []	224059	\N	\N	EFO	1	EFO	Isochromosome Y	Isochromosomy Yq
Orphanet:98158	Orphanet:96325	\N	"" []	Orphanet:98798	"" []	580791	\N	\N	EFO	2	EFO	Chromosome Y structural anomaly	Isochromosomy Yq
Orphanet:98157	Orphanet:98158	\N	"" []	Orphanet:98798	"" []	1164790	\N	\N	EFO	3	EFO	Gonosome structural anomaly	Isochromosomy Yq
Orphanet:98155	Orphanet:98157	\N	"" []	Orphanet:98798	"" []	2048686	\N	\N	EFO	4	EFO	Gonosome anomaly	Isochromosomy Yq
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:98798	"" []	3198725	\N	\N	EFO	5	EFO	Chromosomal anomaly	Isochromosomy Yq
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98798	"" []	4404032	\N	\N	EFO	6	EFO	genetic disorder	Isochromosomy Yq
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98798	"" []	5419769	\N	\N	EFO	7	EFO	disease	Isochromosomy Yq
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98798	"" []	6153869	\N	\N	EFO	8	EFO	disposition	Isochromosomy Yq
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98798	"" []	6634630	\N	\N	EFO	9	EFO	material property	Isochromosomy Yq
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98798	"" []	6926409	\N	\N	EFO	10	EFO	experimental factor	Isochromosomy Yq
Orphanet:988	\N	\N	"" []	Orphanet:988	"" []	79068	\N	\N	EFO	0	EFO	Absent tibia - polydactyly	Absent tibia - polydactyly
Orphanet:404574	Orphanet:988	\N	"" []	Orphanet:988	"" []	224060	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Absent tibia - polydactyly
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:988	"" []	580792	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Absent tibia - polydactyly
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:988	"" []	580793	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Absent tibia - polydactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:988	"" []	1164791	\N	\N	EFO	3	EFO	Dysostosis of genetic origin	Absent tibia - polydactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:988	"" []	1164792	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Absent tibia - polydactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:988	"" []	2048687	\N	\N	EFO	4	EFO	Rare genetic bone disease	Absent tibia - polydactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:988	"" []	2048688	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Absent tibia - polydactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:988	"" []	2048689	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Absent tibia - polydactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:988	"" []	3198726	\N	\N	EFO	5	EFO	genetic disorder	Absent tibia - polydactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:988	"" []	3198727	\N	\N	EFO	5	EFO	bone disease	Absent tibia - polydactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:988	"" []	3198728	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Absent tibia - polydactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:988	"" []	4404035	\N	\N	EFO	6	EFO	genetic disorder	Absent tibia - polydactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:988	"" []	5183751	\N	\N	EFO	7	EFO	disease	Absent tibia - polydactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:988	"" []	4404034	\N	\N	EFO	6	EFO	skeletal system disease	Absent tibia - polydactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:988	"" []	5999071	\N	\N	EFO	8	EFO	disposition	Absent tibia - polydactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:988	"" []	5419771	\N	\N	EFO	7	EFO	disease	Absent tibia - polydactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:988	"" []	6552040	\N	\N	EFO	9	EFO	material property	Absent tibia - polydactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:988	"" []	6889635	\N	\N	EFO	10	EFO	experimental factor	Absent tibia - polydactyly
Orphanet:98805	\N	\N	"" []	Orphanet:98805	"" []	79069	\N	\N	EFO	0	EFO	Primary dystonia, DYT4 type	Primary dystonia, DYT4 type
Orphanet:1866	Orphanet:98805	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:98805	"" []	224061	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Primary dystonia, DYT4 type
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:98805	"" []	580794	\N	\N	EFO	2	EFO	Isolated dystonia	Primary dystonia, DYT4 type
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:98805	"" []	1164793	\N	\N	EFO	3	EFO	Rare genetic dystonia	Primary dystonia, DYT4 type
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:98805	"" []	2048690	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Primary dystonia, DYT4 type
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:98805	"" []	3198730	\N	\N	EFO	5	EFO	movement disorder	Primary dystonia, DYT4 type
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:98805	"" []	3198731	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Primary dystonia, DYT4 type
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98805	"" []	4404036	\N	\N	EFO	6	EFO	nervous system disease	Primary dystonia, DYT4 type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98805	"" []	4404037	\N	\N	EFO	6	EFO	genetic disorder	Primary dystonia, DYT4 type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98805	"" []	5419772	\N	\N	EFO	7	EFO	disease	Primary dystonia, DYT4 type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98805	"" []	5419773	\N	\N	EFO	7	EFO	disease	Primary dystonia, DYT4 type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98805	"" []	6153871	\N	\N	EFO	8	EFO	disposition	Primary dystonia, DYT4 type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98805	"" []	6634632	\N	\N	EFO	9	EFO	material property	Primary dystonia, DYT4 type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98805	"" []	6926410	\N	\N	EFO	10	EFO	experimental factor	Primary dystonia, DYT4 type
Orphanet:98806	\N	\N	"" []	Orphanet:98806	"" []	79070	\N	\N	EFO	0	EFO	Primary dystonia, DYT6 type	Primary dystonia, DYT6 type
Orphanet:376724	Orphanet:98806	\N	"" []	Orphanet:98806	"" []	224062	\N	\N	EFO	1	EFO	Generalized isolated dystonia	Primary dystonia, DYT6 type
Orphanet:156159	Orphanet:376724	\N	"" []	Orphanet:98806	"" []	580795	\N	\N	EFO	2	EFO	Isolated dystonia	Primary dystonia, DYT6 type
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:98806	"" []	1164794	\N	\N	EFO	3	EFO	Rare genetic dystonia	Primary dystonia, DYT6 type
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:98806	"" []	2048691	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Primary dystonia, DYT6 type
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:98806	"" []	3198732	\N	\N	EFO	5	EFO	movement disorder	Primary dystonia, DYT6 type
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:98806	"" []	3198733	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Primary dystonia, DYT6 type
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98806	"" []	4404038	\N	\N	EFO	6	EFO	nervous system disease	Primary dystonia, DYT6 type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98806	"" []	4404039	\N	\N	EFO	6	EFO	genetic disorder	Primary dystonia, DYT6 type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98806	"" []	5419774	\N	\N	EFO	7	EFO	disease	Primary dystonia, DYT6 type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98806	"" []	5419775	\N	\N	EFO	7	EFO	disease	Primary dystonia, DYT6 type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98806	"" []	6153872	\N	\N	EFO	8	EFO	disposition	Primary dystonia, DYT6 type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98806	"" []	6634633	\N	\N	EFO	9	EFO	material property	Primary dystonia, DYT6 type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98806	"" []	6926411	\N	\N	EFO	10	EFO	experimental factor	Primary dystonia, DYT6 type
Orphanet:98807	\N	\N	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	79071	\N	\N	EFO	0	EFO	Primary dystonia, DYT13 type	Primary dystonia, DYT13 type
Orphanet:1866	Orphanet:98807	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	224063	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Primary dystonia, DYT13 type
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	580796	\N	\N	EFO	2	EFO	Isolated dystonia	Primary dystonia, DYT13 type
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	1164795	\N	\N	EFO	3	EFO	Rare genetic dystonia	Primary dystonia, DYT13 type
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	2048692	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Primary dystonia, DYT13 type
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	3198734	\N	\N	EFO	5	EFO	movement disorder	Primary dystonia, DYT13 type
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	3198735	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Primary dystonia, DYT13 type
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	4404040	\N	\N	EFO	6	EFO	nervous system disease	Primary dystonia, DYT13 type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	4404041	\N	\N	EFO	6	EFO	genetic disorder	Primary dystonia, DYT13 type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	5419776	\N	\N	EFO	7	EFO	disease	Primary dystonia, DYT13 type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	5419777	\N	\N	EFO	7	EFO	disease	Primary dystonia, DYT13 type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	6153873	\N	\N	EFO	8	EFO	disposition	Primary dystonia, DYT13 type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	6634634	\N	\N	EFO	9	EFO	material property	Primary dystonia, DYT13 type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98807	"DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." []	6926412	\N	\N	EFO	10	EFO	experimental factor	Primary dystonia, DYT13 type
Orphanet:98808	\N	\N	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	79072	\N	\N	EFO	0	EFO	Autosomal dominant dopa-responsive dystonia	Autosomal dominant dopa-responsive dystonia
Orphanet:255	Orphanet:98808	\N	"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	224064	\N	\N	EFO	1	EFO	Dopa-responsive dystonia	Autosomal dominant dopa-responsive dystonia
Orphanet:309819	Orphanet:98808	\N	"" []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	224065	\N	\N	EFO	1	EFO	Disorder of pterin metabolism	Autosomal dominant dopa-responsive dystonia
Orphanet:391711	Orphanet:255	\N	"" []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	580797	\N	\N	EFO	2	EFO	Persistent combined dystonia	Autosomal dominant dopa-responsive dystonia
Orphanet:68385	Orphanet:255	\N	"" []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	580798	\N	\N	EFO	2	EFO	Neurometabolic disease	Autosomal dominant dopa-responsive dystonia
Orphanet:79169	Orphanet:309819	\N	"" []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	580799	\N	\N	EFO	2	EFO	Disorder of neurotransmitter metabolism and transport	Autosomal dominant dopa-responsive dystonia
Orphanet:98203	Orphanet:391711	\N	"" []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	1164796	\N	\N	EFO	3	EFO	Combined dystonia	Autosomal dominant dopa-responsive dystonia
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	1164797	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Autosomal dominant dopa-responsive dystonia
Orphanet:79214	Orphanet:79169	\N	"" []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	1164798	\N	\N	EFO	3	EFO	Disorder of biogenic amine metabolism and transport	Autosomal dominant dopa-responsive dystonia
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	2048693	\N	\N	EFO	4	EFO	Rare genetic dystonia	Autosomal dominant dopa-responsive dystonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	5419779	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant dopa-responsive dystonia
Orphanet:68367	Orphanet:79214	\N	"" []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	2048695	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Autosomal dominant dopa-responsive dystonia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	3198736	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Autosomal dominant dopa-responsive dystonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	5817936	\N	\N	EFO	8	EFO	disease	Autosomal dominant dopa-responsive dystonia
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	3198738	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant dopa-responsive dystonia
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	3198739	\N	\N	EFO	5	EFO	metabolic disease	Autosomal dominant dopa-responsive dystonia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	4404042	\N	\N	EFO	6	EFO	movement disorder	Autosomal dominant dopa-responsive dystonia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	4404043	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant dopa-responsive dystonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	6410478	\N	\N	EFO	9	EFO	disposition	Autosomal dominant dopa-responsive dystonia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	4404046	\N	\N	EFO	6	EFO	disease	Autosomal dominant dopa-responsive dystonia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	5419778	\N	\N	EFO	7	EFO	nervous system disease	Autosomal dominant dopa-responsive dystonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	6808276	\N	\N	EFO	10	EFO	material property	Autosomal dominant dopa-responsive dystonia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	6153874	\N	\N	EFO	8	EFO	disease	Autosomal dominant dopa-responsive dystonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98808	"Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." []	7048890	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant dopa-responsive dystonia
Orphanet:98809	\N	\N	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	79073	\N	\N	EFO	0	EFO	Paroxysmal kinesigenic dyskinesia	Paroxysmal kinesigenic dyskinesia
Orphanet:1431	Orphanet:98809	\N	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	224066	\N	\N	EFO	1	EFO	Paroxysmal dyskinesia	Paroxysmal kinesigenic dyskinesia
Orphanet:200037	Orphanet:1431	\N	"" []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	580800	\N	\N	EFO	2	EFO	Paroxysmal dystonia	Paroxysmal kinesigenic dyskinesia
Orphanet:306768	Orphanet:200037	\N	"" []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	1164799	\N	\N	EFO	3	EFO	Rare paroxysmal movement disorder	Paroxysmal kinesigenic dyskinesia
Orphanet:98203	Orphanet:200037	\N	"" []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	1164800	\N	\N	EFO	3	EFO	Combined dystonia	Paroxysmal kinesigenic dyskinesia
Orphanet:183521	Orphanet:306768	\N	"" []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	2048696	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Paroxysmal kinesigenic dyskinesia
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	2048697	\N	\N	EFO	4	EFO	Rare genetic dystonia	Paroxysmal kinesigenic dyskinesia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	4404049	\N	\N	EFO	6	EFO	movement disorder	Paroxysmal kinesigenic dyskinesia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	4404050	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Paroxysmal kinesigenic dyskinesia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	3198742	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Paroxysmal kinesigenic dyskinesia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	5183753	\N	\N	EFO	7	EFO	nervous system disease	Paroxysmal kinesigenic dyskinesia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	5183754	\N	\N	EFO	7	EFO	genetic disorder	Paroxysmal kinesigenic dyskinesia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	5999073	\N	\N	EFO	8	EFO	disease	Paroxysmal kinesigenic dyskinesia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	5999074	\N	\N	EFO	8	EFO	disease	Paroxysmal kinesigenic dyskinesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	6552042	\N	\N	EFO	9	EFO	disposition	Paroxysmal kinesigenic dyskinesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	6889636	\N	\N	EFO	10	EFO	material property	Paroxysmal kinesigenic dyskinesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98809	"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." []	7086091	\N	\N	EFO	11	EFO	experimental factor	Paroxysmal kinesigenic dyskinesia
Orphanet:98810	\N	\N	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	79074	\N	\N	EFO	0	EFO	Paroxysmal non-kinesigenic dyskinesia	Paroxysmal non-kinesigenic dyskinesia
Orphanet:1431	Orphanet:98810	\N	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	224067	\N	\N	EFO	1	EFO	Paroxysmal dyskinesia	Paroxysmal non-kinesigenic dyskinesia
Orphanet:200037	Orphanet:1431	\N	"" []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	580801	\N	\N	EFO	2	EFO	Paroxysmal dystonia	Paroxysmal non-kinesigenic dyskinesia
Orphanet:306768	Orphanet:200037	\N	"" []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	1164801	\N	\N	EFO	3	EFO	Rare paroxysmal movement disorder	Paroxysmal non-kinesigenic dyskinesia
Orphanet:98203	Orphanet:200037	\N	"" []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	1164802	\N	\N	EFO	3	EFO	Combined dystonia	Paroxysmal non-kinesigenic dyskinesia
Orphanet:183521	Orphanet:306768	\N	"" []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	2048698	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Paroxysmal non-kinesigenic dyskinesia
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	2048699	\N	\N	EFO	4	EFO	Rare genetic dystonia	Paroxysmal non-kinesigenic dyskinesia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	4404053	\N	\N	EFO	6	EFO	movement disorder	Paroxysmal non-kinesigenic dyskinesia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	4404054	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Paroxysmal non-kinesigenic dyskinesia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	3198745	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Paroxysmal non-kinesigenic dyskinesia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	5183755	\N	\N	EFO	7	EFO	nervous system disease	Paroxysmal non-kinesigenic dyskinesia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	5183756	\N	\N	EFO	7	EFO	genetic disorder	Paroxysmal non-kinesigenic dyskinesia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	5999075	\N	\N	EFO	8	EFO	disease	Paroxysmal non-kinesigenic dyskinesia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	5999076	\N	\N	EFO	8	EFO	disease	Paroxysmal non-kinesigenic dyskinesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	6552043	\N	\N	EFO	9	EFO	disposition	Paroxysmal non-kinesigenic dyskinesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	6889637	\N	\N	EFO	10	EFO	material property	Paroxysmal non-kinesigenic dyskinesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98810	"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." []	7086092	\N	\N	EFO	11	EFO	experimental factor	Paroxysmal non-kinesigenic dyskinesia
Orphanet:98811	\N	\N	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	79075	\N	\N	EFO	0	EFO	Paroxysmal exertion-induced dyskinesia	Paroxysmal exertion-induced dyskinesia
Orphanet:1431	Orphanet:98811	\N	"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	224068	\N	\N	EFO	1	EFO	Paroxysmal dyskinesia	Paroxysmal exertion-induced dyskinesia
Orphanet:200037	Orphanet:1431	\N	"" []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	580802	\N	\N	EFO	2	EFO	Paroxysmal dystonia	Paroxysmal exertion-induced dyskinesia
Orphanet:306768	Orphanet:200037	\N	"" []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	1164803	\N	\N	EFO	3	EFO	Rare paroxysmal movement disorder	Paroxysmal exertion-induced dyskinesia
Orphanet:98203	Orphanet:200037	\N	"" []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	1164804	\N	\N	EFO	3	EFO	Combined dystonia	Paroxysmal exertion-induced dyskinesia
Orphanet:183521	Orphanet:306768	\N	"" []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	2048700	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Paroxysmal exertion-induced dyskinesia
Orphanet:391799	Orphanet:98203	\N	"" []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	2048701	\N	\N	EFO	4	EFO	Rare genetic dystonia	Paroxysmal exertion-induced dyskinesia
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	4404057	\N	\N	EFO	6	EFO	movement disorder	Paroxysmal exertion-induced dyskinesia
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	4404058	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Paroxysmal exertion-induced dyskinesia
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	3198748	\N	\N	EFO	5	EFO	Rare genetic movement disorder	Paroxysmal exertion-induced dyskinesia
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	5183757	\N	\N	EFO	7	EFO	nervous system disease	Paroxysmal exertion-induced dyskinesia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	5183758	\N	\N	EFO	7	EFO	genetic disorder	Paroxysmal exertion-induced dyskinesia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	5999077	\N	\N	EFO	8	EFO	disease	Paroxysmal exertion-induced dyskinesia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	5999078	\N	\N	EFO	8	EFO	disease	Paroxysmal exertion-induced dyskinesia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	6552044	\N	\N	EFO	9	EFO	disposition	Paroxysmal exertion-induced dyskinesia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	6889638	\N	\N	EFO	10	EFO	material property	Paroxysmal exertion-induced dyskinesia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98811	"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." []	7086093	\N	\N	EFO	11	EFO	experimental factor	Paroxysmal exertion-induced dyskinesia
Orphanet:98813	\N	\N	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	79076	\N	\N	EFO	0	EFO	Hypohidrotic ectodermal dysplasia with immunodeficiency	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:238468	Orphanet:98813	\N	"Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	224069	\N	\N	EFO	1	EFO	Hypohidrotic ectodermal dysplasia	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:331193	Orphanet:98813	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	224070	\N	\N	EFO	1	EFO	Other immunodeficiency syndromes due to defects in innate immunity	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0004198	Orphanet:238468	\N	"Tumors or cancer of the SKIN." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	580803	\N	\N	EFO	2	EFO	skin neoplasm	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:79373	Orphanet:238468	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	580804	\N	\N	EFO	2	EFO	Ectodermal dysplasia syndrome	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:98604	Orphanet:238468	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	580805	\N	\N	EFO	2	EFO	Congenital alacrima	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:101988	Orphanet:331193	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	580806	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in innate immunity	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000616	EFO:0004198	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	1164805	\N	\N	EFO	3	EFO	neoplasm	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000701	EFO:0004198	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	1164806	\N	\N	EFO	3	EFO	skin disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	1164807	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	1164808	\N	\N	EFO	3	EFO	Genetic epidermal appendage anomaly	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:98603	Orphanet:98604	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	1164809	\N	\N	EFO	3	EFO	Secretory apparatus of the lacrimal system anomaly	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	1164810	\N	\N	EFO	3	EFO	Primary immunodeficiency	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	2048702	\N	\N	EFO	4	EFO	disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	4404061	\N	\N	EFO	6	EFO	disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	2048704	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	2048705	\N	\N	EFO	4	EFO	Rare genetic skin disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:98602	Orphanet:98603	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	2048706	\N	\N	EFO	4	EFO	Rare lacrimal system disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	2048707	\N	\N	EFO	4	EFO	Rare genetic immune disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	6471152	\N	\N	EFO	9	EFO	disposition	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	3198750	\N	\N	EFO	5	EFO	genetic disorder	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	3198751	\N	\N	EFO	5	EFO	genetic disorder	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	3198752	\N	\N	EFO	5	EFO	skin disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:183598	Orphanet:98602	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	3198753	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	3198754	\N	\N	EFO	5	EFO	genetic disorder	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	3198755	\N	\N	EFO	5	EFO	immune system disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	6778871	\N	\N	EFO	10	EFO	material property	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	6153879	\N	\N	EFO	8	EFO	disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	4404062	\N	\N	EFO	6	EFO	Rare genetic eye disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	4404063	\N	\N	EFO	6	EFO	disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	7030057	\N	\N	EFO	11	EFO	experimental factor	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	5419788	\N	\N	EFO	7	EFO	genetic disorder	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	5419789	\N	\N	EFO	7	EFO	eye disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98813	"Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." []	6153880	\N	\N	EFO	8	EFO	disease	Hypohidrotic ectodermal dysplasia with immunodeficiency
Orphanet:98815	\N	\N	"" []	Orphanet:98815	"" []	79077	\N	\N	EFO	0	EFO	Benign childhood occipital epilepsy, Panayiotopoulos type	Benign childhood occipital epilepsy, Panayiotopoulos type
Orphanet:25968	Orphanet:98815	\N	"" []	Orphanet:98815	"" []	224071	\N	\N	EFO	1	EFO	Benign occipital epilepsy	Benign childhood occipital epilepsy, Panayiotopoulos type
Orphanet:98259	Orphanet:25968	\N	"" []	Orphanet:98815	"" []	580807	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Benign childhood occipital epilepsy, Panayiotopoulos type
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:98815	"" []	1164811	\N	\N	EFO	3	EFO	Epilepsy syndrome	Benign childhood occipital epilepsy, Panayiotopoulos type
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:98815	"" []	2048708	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Benign childhood occipital epilepsy, Panayiotopoulos type
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:98815	"" []	3198756	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Benign childhood occipital epilepsy, Panayiotopoulos type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98815	"" []	4404064	\N	\N	EFO	6	EFO	genetic disorder	Benign childhood occipital epilepsy, Panayiotopoulos type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98815	"" []	5419790	\N	\N	EFO	7	EFO	disease	Benign childhood occipital epilepsy, Panayiotopoulos type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98815	"" []	6153881	\N	\N	EFO	8	EFO	disposition	Benign childhood occipital epilepsy, Panayiotopoulos type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98815	"" []	6634638	\N	\N	EFO	9	EFO	material property	Benign childhood occipital epilepsy, Panayiotopoulos type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98815	"" []	6926416	\N	\N	EFO	10	EFO	experimental factor	Benign childhood occipital epilepsy, Panayiotopoulos type
Orphanet:98816	\N	\N	"" []	Orphanet:98816	"" []	79078	\N	\N	EFO	0	EFO	Benign childhood occipital epilepsy, Gastaut type	Benign childhood occipital epilepsy, Gastaut type
Orphanet:25968	Orphanet:98816	\N	"" []	Orphanet:98816	"" []	224072	\N	\N	EFO	1	EFO	Benign occipital epilepsy	Benign childhood occipital epilepsy, Gastaut type
Orphanet:98259	Orphanet:25968	\N	"" []	Orphanet:98816	"" []	580808	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Benign childhood occipital epilepsy, Gastaut type
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:98816	"" []	1164812	\N	\N	EFO	3	EFO	Epilepsy syndrome	Benign childhood occipital epilepsy, Gastaut type
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:98816	"" []	2048709	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Benign childhood occipital epilepsy, Gastaut type
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:98816	"" []	3198757	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Benign childhood occipital epilepsy, Gastaut type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98816	"" []	4404065	\N	\N	EFO	6	EFO	genetic disorder	Benign childhood occipital epilepsy, Gastaut type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98816	"" []	5419791	\N	\N	EFO	7	EFO	disease	Benign childhood occipital epilepsy, Gastaut type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98816	"" []	6153882	\N	\N	EFO	8	EFO	disposition	Benign childhood occipital epilepsy, Gastaut type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98816	"" []	6634639	\N	\N	EFO	9	EFO	material property	Benign childhood occipital epilepsy, Gastaut type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98816	"" []	6926417	\N	\N	EFO	10	EFO	experimental factor	Benign childhood occipital epilepsy, Gastaut type
Orphanet:98819	\N	\N	"" []	Orphanet:98819	"" []	79079	\N	\N	EFO	0	EFO	Familial temporal epilepsy	Familial temporal epilepsy
Orphanet:309	Orphanet:98819	\N	"" []	Orphanet:98819	"" []	224073	\N	\N	EFO	1	EFO	Familial partial epilepsy	Familial temporal epilepsy
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:98819	"" []	580809	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Familial temporal epilepsy
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:98819	"" []	580810	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Familial temporal epilepsy
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:98819	"" []	580811	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Familial temporal epilepsy
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:98819	"" []	580812	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Familial temporal epilepsy
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:98819	"" []	1164813	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Familial temporal epilepsy
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:98819	"" []	1164814	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Familial temporal epilepsy
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:98819	"" []	1164815	\N	\N	EFO	3	EFO	Epilepsy syndrome	Familial temporal epilepsy
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:98819	"" []	1164816	\N	\N	EFO	3	EFO	Epilepsy syndrome	Familial temporal epilepsy
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:98819	"" []	3198759	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Familial temporal epilepsy
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:98819	"" []	2048711	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Familial temporal epilepsy
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:98819	"" []	2048712	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Familial temporal epilepsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98819	"" []	4134568	\N	\N	EFO	6	EFO	genetic disorder	Familial temporal epilepsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98819	"" []	5183759	\N	\N	EFO	7	EFO	disease	Familial temporal epilepsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98819	"" []	5999079	\N	\N	EFO	8	EFO	disposition	Familial temporal epilepsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98819	"" []	6552045	\N	\N	EFO	9	EFO	material property	Familial temporal epilepsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98819	"" []	6889639	\N	\N	EFO	10	EFO	experimental factor	Familial temporal epilepsy
Orphanet:98820	\N	\N	"" []	Orphanet:98820	"" []	79080	\N	\N	EFO	0	EFO	Familial focal epilepsy with variable foci	Familial focal epilepsy with variable foci
Orphanet:309	Orphanet:98820	\N	"" []	Orphanet:98820	"" []	224074	\N	\N	EFO	1	EFO	Familial partial epilepsy	Familial focal epilepsy with variable foci
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:98820	"" []	580813	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Familial focal epilepsy with variable foci
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:98820	"" []	580814	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Familial focal epilepsy with variable foci
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:98820	"" []	580815	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Familial focal epilepsy with variable foci
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:98820	"" []	580816	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Familial focal epilepsy with variable foci
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:98820	"" []	1164817	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Familial focal epilepsy with variable foci
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:98820	"" []	1164818	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Familial focal epilepsy with variable foci
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:98820	"" []	1164819	\N	\N	EFO	3	EFO	Epilepsy syndrome	Familial focal epilepsy with variable foci
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:98820	"" []	1164820	\N	\N	EFO	3	EFO	Epilepsy syndrome	Familial focal epilepsy with variable foci
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:98820	"" []	3198761	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Familial focal epilepsy with variable foci
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:98820	"" []	2048714	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Familial focal epilepsy with variable foci
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:98820	"" []	2048715	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Familial focal epilepsy with variable foci
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98820	"" []	4134569	\N	\N	EFO	6	EFO	genetic disorder	Familial focal epilepsy with variable foci
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98820	"" []	5183760	\N	\N	EFO	7	EFO	disease	Familial focal epilepsy with variable foci
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98820	"" []	5999080	\N	\N	EFO	8	EFO	disposition	Familial focal epilepsy with variable foci
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98820	"" []	6552046	\N	\N	EFO	9	EFO	material property	Familial focal epilepsy with variable foci
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98820	"" []	6889640	\N	\N	EFO	10	EFO	experimental factor	Familial focal epilepsy with variable foci
Orphanet:98853	\N	\N	"" []	Orphanet:98853	"" []	79081	\N	\N	EFO	0	EFO	Autosomal dominant Emery-Dreifuss muscular dystrophy	Autosomal dominant Emery-Dreifuss muscular dystrophy
Orphanet:261	Orphanet:98853	\N	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	Orphanet:98853	"" []	224075	\N	\N	EFO	1	EFO	Emery-Dreifuss muscular dystrophy	Autosomal dominant Emery-Dreifuss muscular dystrophy
Orphanet:206644	Orphanet:261	\N	"" []	Orphanet:98853	"" []	580817	\N	\N	EFO	2	EFO	Progressive muscular dystrophy	Autosomal dominant Emery-Dreifuss muscular dystrophy
Orphanet:217610	Orphanet:261	\N	"" []	Orphanet:98853	"" []	580818	\N	\N	EFO	2	EFO	Neuromuscular disease with dilated cardiomyopathy	Autosomal dominant Emery-Dreifuss muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:98853	"" []	1164821	\N	\N	EFO	3	EFO	Muscular dystrophy	Autosomal dominant Emery-Dreifuss muscular dystrophy
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:98853	"" []	1164822	\N	\N	EFO	3	EFO	Familial dilated cardiomyopathy	Autosomal dominant Emery-Dreifuss muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:98853	"" []	2048716	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Autosomal dominant Emery-Dreifuss muscular dystrophy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:98853	"" []	2048717	\N	\N	EFO	4	EFO	cardiomyopathy	Autosomal dominant Emery-Dreifuss muscular dystrophy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:98853	"" []	2048718	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Autosomal dominant Emery-Dreifuss muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98853	"" []	3198762	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal dominant Emery-Dreifuss muscular dystrophy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98853	"" []	3198763	\N	\N	EFO	5	EFO	heart disease	Autosomal dominant Emery-Dreifuss muscular dystrophy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98853	"" []	3198764	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant Emery-Dreifuss muscular dystrophy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98853	"" []	3198765	\N	\N	EFO	5	EFO	heart disease	Autosomal dominant Emery-Dreifuss muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98853	"" []	4404068	\N	\N	EFO	6	EFO	muscular disease	Autosomal dominant Emery-Dreifuss muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98853	"" []	4404069	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant Emery-Dreifuss muscular dystrophy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:98853	"" []	4404070	\N	\N	EFO	6	EFO	cardiovascular disease	Autosomal dominant Emery-Dreifuss muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98853	"" []	6153886	\N	\N	EFO	8	EFO	disease	Autosomal dominant Emery-Dreifuss muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98853	"" []	5419794	\N	\N	EFO	7	EFO	skeletal system disease	Autosomal dominant Emery-Dreifuss muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98853	"" []	5419795	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant Emery-Dreifuss muscular dystrophy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98853	"" []	5419796	\N	\N	EFO	7	EFO	disease	Autosomal dominant Emery-Dreifuss muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98853	"" []	6471153	\N	\N	EFO	9	EFO	disposition	Autosomal dominant Emery-Dreifuss muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98853	"" []	6153885	\N	\N	EFO	8	EFO	disease	Autosomal dominant Emery-Dreifuss muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98853	"" []	6848942	\N	\N	EFO	10	EFO	material property	Autosomal dominant Emery-Dreifuss muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98853	"" []	7068575	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant Emery-Dreifuss muscular dystrophy
Orphanet:98855	\N	\N	"" []	Orphanet:98855	"" []	79082	\N	\N	EFO	0	EFO	Autosomal recessive Emery-Dreifuss muscular dystrophy	Autosomal recessive Emery-Dreifuss muscular dystrophy
Orphanet:261	Orphanet:98855	\N	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	Orphanet:98855	"" []	224076	\N	\N	EFO	1	EFO	Emery-Dreifuss muscular dystrophy	Autosomal recessive Emery-Dreifuss muscular dystrophy
Orphanet:206644	Orphanet:261	\N	"" []	Orphanet:98855	"" []	580819	\N	\N	EFO	2	EFO	Progressive muscular dystrophy	Autosomal recessive Emery-Dreifuss muscular dystrophy
Orphanet:217610	Orphanet:261	\N	"" []	Orphanet:98855	"" []	580820	\N	\N	EFO	2	EFO	Neuromuscular disease with dilated cardiomyopathy	Autosomal recessive Emery-Dreifuss muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:98855	"" []	1164823	\N	\N	EFO	3	EFO	Muscular dystrophy	Autosomal recessive Emery-Dreifuss muscular dystrophy
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:98855	"" []	1164824	\N	\N	EFO	3	EFO	Familial dilated cardiomyopathy	Autosomal recessive Emery-Dreifuss muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:98855	"" []	2048719	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Autosomal recessive Emery-Dreifuss muscular dystrophy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:98855	"" []	2048720	\N	\N	EFO	4	EFO	cardiomyopathy	Autosomal recessive Emery-Dreifuss muscular dystrophy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:98855	"" []	2048721	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Autosomal recessive Emery-Dreifuss muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98855	"" []	3198766	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal recessive Emery-Dreifuss muscular dystrophy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98855	"" []	3198767	\N	\N	EFO	5	EFO	heart disease	Autosomal recessive Emery-Dreifuss muscular dystrophy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98855	"" []	3198768	\N	\N	EFO	5	EFO	genetic disorder	Autosomal recessive Emery-Dreifuss muscular dystrophy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98855	"" []	3198769	\N	\N	EFO	5	EFO	heart disease	Autosomal recessive Emery-Dreifuss muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98855	"" []	4404072	\N	\N	EFO	6	EFO	muscular disease	Autosomal recessive Emery-Dreifuss muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98855	"" []	4404073	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal recessive Emery-Dreifuss muscular dystrophy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:98855	"" []	4404074	\N	\N	EFO	6	EFO	cardiovascular disease	Autosomal recessive Emery-Dreifuss muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98855	"" []	6153890	\N	\N	EFO	8	EFO	disease	Autosomal recessive Emery-Dreifuss muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98855	"" []	5419798	\N	\N	EFO	7	EFO	skeletal system disease	Autosomal recessive Emery-Dreifuss muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98855	"" []	5419799	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive Emery-Dreifuss muscular dystrophy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98855	"" []	5419800	\N	\N	EFO	7	EFO	disease	Autosomal recessive Emery-Dreifuss muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98855	"" []	6471154	\N	\N	EFO	9	EFO	disposition	Autosomal recessive Emery-Dreifuss muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98855	"" []	6153889	\N	\N	EFO	8	EFO	disease	Autosomal recessive Emery-Dreifuss muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98855	"" []	6848943	\N	\N	EFO	10	EFO	material property	Autosomal recessive Emery-Dreifuss muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98855	"" []	7068576	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive Emery-Dreifuss muscular dystrophy
Orphanet:98856	\N	\N	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	79083	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 2B1	Charcot-Marie-Tooth disease type 2B1
Orphanet:91024	Orphanet:98856	\N	"" []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	224077	\N	\N	EFO	1	EFO	Autosomal recessive axonal Charcot-Marie-Tooth disease type 2	Charcot-Marie-Tooth disease type 2B1
Orphanet:140450	Orphanet:91024	\N	"" []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	580821	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 2B1
Orphanet:166	Orphanet:91024	\N	"" []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	580822	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 2B1
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	1164825	\N	\N	EFO	3	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 2B1
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	1164826	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 2B1
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	1164827	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 2B1
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	2048722	\N	\N	EFO	4	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 2B1
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	2048723	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 2B1
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	3198770	\N	\N	EFO	5	EFO	nervous system disease	Charcot-Marie-Tooth disease type 2B1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	3198771	\N	\N	EFO	5	EFO	genetic disorder	Charcot-Marie-Tooth disease type 2B1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	4404076	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease type 2B1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	4404077	\N	\N	EFO	6	EFO	disease	Charcot-Marie-Tooth disease type 2B1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	5419802	\N	\N	EFO	7	EFO	disposition	Charcot-Marie-Tooth disease type 2B1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	6153893	\N	\N	EFO	8	EFO	material property	Charcot-Marie-Tooth disease type 2B1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98856	"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." []	6634644	\N	\N	EFO	9	EFO	experimental factor	Charcot-Marie-Tooth disease type 2B1
Orphanet:98863	\N	\N	"" []	Orphanet:98863	"" []	79084	\N	\N	EFO	0	EFO	X-linked Emery-Dreifuss muscular dystrophy	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:209188	Orphanet:98863	\N	"" []	Orphanet:98863	"" []	224078	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of emerin	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:261	Orphanet:98863	\N	"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." []	Orphanet:98863	"" []	224079	\N	\N	EFO	1	EFO	Emery-Dreifuss muscular dystrophy	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:207049	Orphanet:209188	\N	"" []	Orphanet:98863	"" []	580823	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:206644	Orphanet:261	\N	"" []	Orphanet:98863	"" []	580824	\N	\N	EFO	2	EFO	Progressive muscular dystrophy	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:217610	Orphanet:261	\N	"" []	Orphanet:98863	"" []	580825	\N	\N	EFO	2	EFO	Neuromuscular disease with dilated cardiomyopathy	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:98863	"" []	1164828	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:98863	"" []	1164829	\N	\N	EFO	3	EFO	Muscular dystrophy	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:98863	"" []	1164830	\N	\N	EFO	3	EFO	Familial dilated cardiomyopathy	X-linked Emery-Dreifuss muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98863	"" []	4404080	\N	\N	EFO	6	EFO	muscular disease	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98863	"" []	4404081	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:98863	"" []	2048726	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	X-linked Emery-Dreifuss muscular dystrophy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:98863	"" []	2048727	\N	\N	EFO	4	EFO	cardiomyopathy	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:98863	"" []	2048728	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	X-linked Emery-Dreifuss muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98863	"" []	5060360	\N	\N	EFO	7	EFO	skeletal system disease	X-linked Emery-Dreifuss muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98863	"" []	5060361	\N	\N	EFO	7	EFO	genetic disorder	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98863	"" []	3198774	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	X-linked Emery-Dreifuss muscular dystrophy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98863	"" []	3198775	\N	\N	EFO	5	EFO	heart disease	X-linked Emery-Dreifuss muscular dystrophy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98863	"" []	3198776	\N	\N	EFO	5	EFO	genetic disorder	X-linked Emery-Dreifuss muscular dystrophy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98863	"" []	3198777	\N	\N	EFO	5	EFO	heart disease	X-linked Emery-Dreifuss muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98863	"" []	5877925	\N	\N	EFO	8	EFO	disease	X-linked Emery-Dreifuss muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98863	"" []	5877926	\N	\N	EFO	8	EFO	disease	X-linked Emery-Dreifuss muscular dystrophy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:98863	"" []	4404082	\N	\N	EFO	6	EFO	cardiovascular disease	X-linked Emery-Dreifuss muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98863	"" []	6471155	\N	\N	EFO	9	EFO	disposition	X-linked Emery-Dreifuss muscular dystrophy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98863	"" []	5419804	\N	\N	EFO	7	EFO	disease	X-linked Emery-Dreifuss muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98863	"" []	6848944	\N	\N	EFO	10	EFO	material property	X-linked Emery-Dreifuss muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98863	"" []	7068577	\N	\N	EFO	11	EFO	experimental factor	X-linked Emery-Dreifuss muscular dystrophy
Orphanet:98868	\N	\N	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	79085	\N	\N	EFO	0	EFO	Southeast Asian ovalocytosis	Southeast Asian ovalocytosis
Orphanet:98365	Orphanet:98868	\N	"" []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	224080	\N	\N	EFO	1	EFO	Hereditary stomatocytosis	Southeast Asian ovalocytosis
Orphanet:98364	Orphanet:98365	\N	"" []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	580826	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Southeast Asian ovalocytosis
Orphanet:182043	Orphanet:98364	\N	"" []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	1164831	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Southeast Asian ovalocytosis
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	2048729	\N	\N	EFO	4	EFO	Rare constitutional anemia	Southeast Asian ovalocytosis
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	3198778	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Southeast Asian ovalocytosis
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	4404083	\N	\N	EFO	6	EFO	genetic disorder	Southeast Asian ovalocytosis
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	4404084	\N	\N	EFO	6	EFO	hematological system disease	Southeast Asian ovalocytosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	5419805	\N	\N	EFO	7	EFO	disease	Southeast Asian ovalocytosis
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	5419806	\N	\N	EFO	7	EFO	disease	Southeast Asian ovalocytosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	6153896	\N	\N	EFO	8	EFO	disposition	Southeast Asian ovalocytosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	6634646	\N	\N	EFO	9	EFO	material property	Southeast Asian ovalocytosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98868	"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." []	6926418	\N	\N	EFO	10	EFO	experimental factor	Southeast Asian ovalocytosis
Orphanet:98869	\N	\N	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	Orphanet:98869	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	79086	\N	\N	EFO	0	EFO	Congenital dyserythropoietic anemia type I	Congenital dyserythropoietic anemia type I
Orphanet:85	Orphanet:98869	\N	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	Orphanet:98869	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	224081	\N	\N	EFO	1	EFO	Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia type I
Orphanet:293830	Orphanet:85	\N	"" []	Orphanet:98869	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	580827	\N	\N	EFO	2	EFO	Constitutional dyserythropoietic anemia	Congenital dyserythropoietic anemia type I
Orphanet:183651	Orphanet:293830	\N	"" []	Orphanet:98869	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	1164832	\N	\N	EFO	3	EFO	Rare constitutional anemia	Congenital dyserythropoietic anemia type I
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98869	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	2048730	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Congenital dyserythropoietic anemia type I
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98869	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	3198779	\N	\N	EFO	5	EFO	genetic disorder	Congenital dyserythropoietic anemia type I
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98869	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	3198780	\N	\N	EFO	5	EFO	hematological system disease	Congenital dyserythropoietic anemia type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98869	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	4404085	\N	\N	EFO	6	EFO	disease	Congenital dyserythropoietic anemia type I
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98869	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	4404086	\N	\N	EFO	6	EFO	disease	Congenital dyserythropoietic anemia type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98869	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	5419807	\N	\N	EFO	7	EFO	disposition	Congenital dyserythropoietic anemia type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98869	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	6153897	\N	\N	EFO	8	EFO	material property	Congenital dyserythropoietic anemia type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98869	"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." []	6634647	\N	\N	EFO	9	EFO	experimental factor	Congenital dyserythropoietic anemia type I
Orphanet:98870	\N	\N	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	Orphanet:98870	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	79087	\N	\N	EFO	0	EFO	Congenital dyserythropoietic anemia type III	Congenital dyserythropoietic anemia type III
Orphanet:85	Orphanet:98870	\N	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	Orphanet:98870	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	224082	\N	\N	EFO	1	EFO	Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia type III
Orphanet:293830	Orphanet:85	\N	"" []	Orphanet:98870	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	580828	\N	\N	EFO	2	EFO	Constitutional dyserythropoietic anemia	Congenital dyserythropoietic anemia type III
Orphanet:183651	Orphanet:293830	\N	"" []	Orphanet:98870	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	1164833	\N	\N	EFO	3	EFO	Rare constitutional anemia	Congenital dyserythropoietic anemia type III
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98870	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	2048731	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Congenital dyserythropoietic anemia type III
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98870	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	3198781	\N	\N	EFO	5	EFO	genetic disorder	Congenital dyserythropoietic anemia type III
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98870	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	3198782	\N	\N	EFO	5	EFO	hematological system disease	Congenital dyserythropoietic anemia type III
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98870	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	4404087	\N	\N	EFO	6	EFO	disease	Congenital dyserythropoietic anemia type III
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98870	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	4404088	\N	\N	EFO	6	EFO	disease	Congenital dyserythropoietic anemia type III
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98870	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	5419808	\N	\N	EFO	7	EFO	disposition	Congenital dyserythropoietic anemia type III
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98870	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	6153898	\N	\N	EFO	8	EFO	material property	Congenital dyserythropoietic anemia type III
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98870	"Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." []	6634648	\N	\N	EFO	9	EFO	experimental factor	Congenital dyserythropoietic anemia type III
Orphanet:98873	\N	\N	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	79088	\N	\N	EFO	0	EFO	Congenital dyserythropoietic anemia type II	Congenital dyserythropoietic anemia type II
Orphanet:309526	Orphanet:98873	\N	"" []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	224083	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	Congenital dyserythropoietic anemia type II
Orphanet:85	Orphanet:98873	\N	"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	224084	\N	\N	EFO	1	EFO	Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia type II
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	580829	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Congenital dyserythropoietic anemia type II
Orphanet:293830	Orphanet:85	\N	"" []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	580830	\N	\N	EFO	2	EFO	Constitutional dyserythropoietic anemia	Congenital dyserythropoietic anemia type II
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	1164834	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Congenital dyserythropoietic anemia type II
Orphanet:183651	Orphanet:293830	\N	"" []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	1164835	\N	\N	EFO	3	EFO	Rare constitutional anemia	Congenital dyserythropoietic anemia type II
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	2048732	\N	\N	EFO	4	EFO	genetic disorder	Congenital dyserythropoietic anemia type II
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	2048733	\N	\N	EFO	4	EFO	metabolic disease	Congenital dyserythropoietic anemia type II
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	2048734	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Congenital dyserythropoietic anemia type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	4404090	\N	\N	EFO	6	EFO	disease	Congenital dyserythropoietic anemia type II
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	3198784	\N	\N	EFO	5	EFO	disease	Congenital dyserythropoietic anemia type II
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	3198785	\N	\N	EFO	5	EFO	genetic disorder	Congenital dyserythropoietic anemia type II
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	3198786	\N	\N	EFO	5	EFO	hematological system disease	Congenital dyserythropoietic anemia type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	5183761	\N	\N	EFO	7	EFO	disposition	Congenital dyserythropoietic anemia type II
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	4404091	\N	\N	EFO	6	EFO	disease	Congenital dyserythropoietic anemia type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	5999081	\N	\N	EFO	8	EFO	material property	Congenital dyserythropoietic anemia type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98873	"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." []	6552050	\N	\N	EFO	9	EFO	experimental factor	Congenital dyserythropoietic anemia type II
Orphanet:98878	\N	\N	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	Orphanet:98878	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	79089	\N	\N	EFO	0	EFO	Hemophilia A	Hemophilia A
Orphanet:448	Orphanet:98878	\N	"" []	Orphanet:98878	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	224085	\N	\N	EFO	1	EFO	Hemophilia	Hemophilia A
Orphanet:68334	Orphanet:448	\N	"" []	Orphanet:98878	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	580831	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Hemophilia A
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:98878	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	1164836	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Hemophilia A
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:98878	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	2048735	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hemophilia A
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98878	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	3198787	\N	\N	EFO	5	EFO	genetic disorder	Hemophilia A
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98878	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	3198788	\N	\N	EFO	5	EFO	hematological system disease	Hemophilia A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98878	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	4404092	\N	\N	EFO	6	EFO	disease	Hemophilia A
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98878	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	4404093	\N	\N	EFO	6	EFO	disease	Hemophilia A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98878	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	5419810	\N	\N	EFO	7	EFO	disposition	Hemophilia A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98878	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	6153900	\N	\N	EFO	8	EFO	material property	Hemophilia A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98878	"Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." []	6634649	\N	\N	EFO	9	EFO	experimental factor	Hemophilia A
Orphanet:98879	\N	\N	"" []	Orphanet:98879	"" []	79090	\N	\N	EFO	0	EFO	Hemophilia B	Hemophilia B
Orphanet:448	Orphanet:98879	\N	"" []	Orphanet:98879	"" []	224086	\N	\N	EFO	1	EFO	Hemophilia	Hemophilia B
Orphanet:68334	Orphanet:448	\N	"" []	Orphanet:98879	"" []	580832	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Hemophilia B
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:98879	"" []	1164837	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Hemophilia B
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:98879	"" []	2048736	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Hemophilia B
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98879	"" []	3198789	\N	\N	EFO	5	EFO	genetic disorder	Hemophilia B
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98879	"" []	3198790	\N	\N	EFO	5	EFO	hematological system disease	Hemophilia B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98879	"" []	4404094	\N	\N	EFO	6	EFO	disease	Hemophilia B
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98879	"" []	4404095	\N	\N	EFO	6	EFO	disease	Hemophilia B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98879	"" []	5419811	\N	\N	EFO	7	EFO	disposition	Hemophilia B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98879	"" []	6153901	\N	\N	EFO	8	EFO	material property	Hemophilia B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98879	"" []	6634650	\N	\N	EFO	9	EFO	experimental factor	Hemophilia B
Orphanet:98880	\N	\N	"" []	Orphanet:98880	"" []	79091	\N	\N	EFO	0	EFO	Familial afibrinogenemia	Familial afibrinogenemia
Orphanet:335	Orphanet:98880	\N	"" []	Orphanet:98880	"" []	224087	\N	\N	EFO	1	EFO	Congenital fibrinogen deficiency	Familial afibrinogenemia
Orphanet:68334	Orphanet:335	\N	"" []	Orphanet:98880	"" []	580833	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Familial afibrinogenemia
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:98880	"" []	1164838	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Familial afibrinogenemia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:98880	"" []	2048737	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Familial afibrinogenemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98880	"" []	3198791	\N	\N	EFO	5	EFO	genetic disorder	Familial afibrinogenemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98880	"" []	3198792	\N	\N	EFO	5	EFO	hematological system disease	Familial afibrinogenemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98880	"" []	4404096	\N	\N	EFO	6	EFO	disease	Familial afibrinogenemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98880	"" []	4404097	\N	\N	EFO	6	EFO	disease	Familial afibrinogenemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98880	"" []	5419812	\N	\N	EFO	7	EFO	disposition	Familial afibrinogenemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98880	"" []	6153902	\N	\N	EFO	8	EFO	material property	Familial afibrinogenemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98880	"" []	6634651	\N	\N	EFO	9	EFO	experimental factor	Familial afibrinogenemia
Orphanet:98881	\N	\N	"" []	Orphanet:98881	"" []	79092	\N	\N	EFO	0	EFO	Familial dysfibrinogenemia	Familial dysfibrinogenemia
Orphanet:335	Orphanet:98881	\N	"" []	Orphanet:98881	"" []	224088	\N	\N	EFO	1	EFO	Congenital fibrinogen deficiency	Familial dysfibrinogenemia
Orphanet:68334	Orphanet:335	\N	"" []	Orphanet:98881	"" []	580834	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Familial dysfibrinogenemia
Orphanet:183654	Orphanet:68334	\N	"" []	Orphanet:98881	"" []	1164839	\N	\N	EFO	3	EFO	Rare genetic coagulation disorder	Familial dysfibrinogenemia
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:98881	"" []	2048738	\N	\N	EFO	4	EFO	Rare genetic hematologic disease	Familial dysfibrinogenemia
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98881	"" []	3198793	\N	\N	EFO	5	EFO	genetic disorder	Familial dysfibrinogenemia
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98881	"" []	3198794	\N	\N	EFO	5	EFO	hematological system disease	Familial dysfibrinogenemia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98881	"" []	4404098	\N	\N	EFO	6	EFO	disease	Familial dysfibrinogenemia
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98881	"" []	4404099	\N	\N	EFO	6	EFO	disease	Familial dysfibrinogenemia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98881	"" []	5419813	\N	\N	EFO	7	EFO	disposition	Familial dysfibrinogenemia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98881	"" []	6153903	\N	\N	EFO	8	EFO	material property	Familial dysfibrinogenemia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98881	"" []	6634652	\N	\N	EFO	9	EFO	experimental factor	Familial dysfibrinogenemia
Orphanet:98885	\N	\N	"" []	Orphanet:98885	"" []	79093	\N	\N	EFO	0	EFO	Bleeding diathesis due to glycoprotein VI deficiency	Bleeding diathesis due to glycoprotein VI deficiency
Orphanet:73271	Orphanet:98885	\N	"" []	Orphanet:98885	"" []	224089	\N	\N	EFO	1	EFO	Bleeding diathesis due to a collagen receptor defect	Bleeding diathesis due to glycoprotein VI deficiency
Orphanet:275736	Orphanet:73271	\N	"" []	Orphanet:98885	"" []	580835	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a platelet receptor defect	Bleeding diathesis due to glycoprotein VI deficiency
Orphanet:71202	Orphanet:275736	\N	"" []	Orphanet:98885	"" []	1164840	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Bleeding diathesis due to glycoprotein VI deficiency
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:98885	"" []	2048739	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Bleeding diathesis due to glycoprotein VI deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:98885	"" []	3198795	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Bleeding diathesis due to glycoprotein VI deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98885	"" []	4404100	\N	\N	EFO	6	EFO	genetic disorder	Bleeding diathesis due to glycoprotein VI deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98885	"" []	4404101	\N	\N	EFO	6	EFO	hematological system disease	Bleeding diathesis due to glycoprotein VI deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98885	"" []	5419814	\N	\N	EFO	7	EFO	disease	Bleeding diathesis due to glycoprotein VI deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98885	"" []	5419815	\N	\N	EFO	7	EFO	disease	Bleeding diathesis due to glycoprotein VI deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98885	"" []	6153904	\N	\N	EFO	8	EFO	disposition	Bleeding diathesis due to glycoprotein VI deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98885	"" []	6634653	\N	\N	EFO	9	EFO	material property	Bleeding diathesis due to glycoprotein VI deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98885	"" []	6926419	\N	\N	EFO	10	EFO	experimental factor	Bleeding diathesis due to glycoprotein VI deficiency
Orphanet:98886	\N	\N	"" []	Orphanet:98886	"" []	79094	\N	\N	EFO	0	EFO	Bleeding diathesis due to integrin alpha2-beta1 deficiency	Bleeding diathesis due to integrin alpha2-beta1 deficiency
Orphanet:73271	Orphanet:98886	\N	"" []	Orphanet:98886	"" []	224090	\N	\N	EFO	1	EFO	Bleeding diathesis due to a collagen receptor defect	Bleeding diathesis due to integrin alpha2-beta1 deficiency
Orphanet:275736	Orphanet:73271	\N	"" []	Orphanet:98886	"" []	580836	\N	\N	EFO	2	EFO	Rare hemorrhagic disorder due to a platelet receptor defect	Bleeding diathesis due to integrin alpha2-beta1 deficiency
Orphanet:71202	Orphanet:275736	\N	"" []	Orphanet:98886	"" []	1164841	\N	\N	EFO	3	EFO	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Bleeding diathesis due to integrin alpha2-beta1 deficiency
Orphanet:183654	Orphanet:71202	\N	"" []	Orphanet:98886	"" []	2048740	\N	\N	EFO	4	EFO	Rare genetic coagulation disorder	Bleeding diathesis due to integrin alpha2-beta1 deficiency
Orphanet:158300	Orphanet:183654	\N	"" []	Orphanet:98886	"" []	3198796	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Bleeding diathesis due to integrin alpha2-beta1 deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98886	"" []	4404102	\N	\N	EFO	6	EFO	genetic disorder	Bleeding diathesis due to integrin alpha2-beta1 deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:98886	"" []	4404103	\N	\N	EFO	6	EFO	hematological system disease	Bleeding diathesis due to integrin alpha2-beta1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98886	"" []	5419816	\N	\N	EFO	7	EFO	disease	Bleeding diathesis due to integrin alpha2-beta1 deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98886	"" []	5419817	\N	\N	EFO	7	EFO	disease	Bleeding diathesis due to integrin alpha2-beta1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98886	"" []	6153905	\N	\N	EFO	8	EFO	disposition	Bleeding diathesis due to integrin alpha2-beta1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98886	"" []	6634654	\N	\N	EFO	9	EFO	material property	Bleeding diathesis due to integrin alpha2-beta1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98886	"" []	6926420	\N	\N	EFO	10	EFO	experimental factor	Bleeding diathesis due to integrin alpha2-beta1 deficiency
Orphanet:98888	\N	\N	"" []	Orphanet:98888	"" []	79095	\N	\N	EFO	0	EFO	X-linked complex spastic paraplegia	X-linked complex spastic paraplegia
Orphanet:102013	Orphanet:98888	\N	"" []	Orphanet:98888	"" []	224091	\N	\N	EFO	1	EFO	Complex hereditary spastic paraplegia	X-linked complex spastic paraplegia
Orphanet:98464	Orphanet:98888	\N	"" []	Orphanet:98888	"" []	224092	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	X-linked complex spastic paraplegia
Orphanet:685	Orphanet:102013	\N	"" []	Orphanet:98888	"" []	580837	\N	\N	EFO	2	EFO	Hereditary spastic paraplegia	X-linked complex spastic paraplegia
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:98888	"" []	580838	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked complex spastic paraplegia
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:98888	"" []	1164842	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	X-linked complex spastic paraplegia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:98888	"" []	1164843	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	X-linked complex spastic paraplegia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98888	"" []	2048741	\N	\N	EFO	4	EFO	neurodegenerative disease	X-linked complex spastic paraplegia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98888	"" []	2048742	\N	\N	EFO	4	EFO	brain disease	X-linked complex spastic paraplegia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98888	"" []	2048743	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked complex spastic paraplegia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:98888	"" []	2048744	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked complex spastic paraplegia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98888	"" []	3198797	\N	\N	EFO	5	EFO	nervous system disease	X-linked complex spastic paraplegia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98888	"" []	3198798	\N	\N	EFO	5	EFO	nervous system disease	X-linked complex spastic paraplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98888	"" []	3198799	\N	\N	EFO	5	EFO	genetic disorder	X-linked complex spastic paraplegia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98888	"" []	4404104	\N	\N	EFO	6	EFO	disease	X-linked complex spastic paraplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98888	"" []	4404105	\N	\N	EFO	6	EFO	disease	X-linked complex spastic paraplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98888	"" []	5419818	\N	\N	EFO	7	EFO	disposition	X-linked complex spastic paraplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98888	"" []	6153906	\N	\N	EFO	8	EFO	material property	X-linked complex spastic paraplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98888	"" []	6634655	\N	\N	EFO	9	EFO	experimental factor	X-linked complex spastic paraplegia
Orphanet:98889	\N	\N	"" []	Orphanet:98889	"" []	79096	\N	\N	EFO	0	EFO	Bilateral perisylvian polymicrogyria	Bilateral perisylvian polymicrogyria
Orphanet:268940	Orphanet:98889	\N	"" []	Orphanet:98889	"" []	224093	\N	\N	EFO	1	EFO	Bilateral polymicrogyria	Bilateral perisylvian polymicrogyria
Orphanet:35981	Orphanet:268940	\N	"" []	Orphanet:98889	"" []	580839	\N	\N	EFO	2	EFO	Polymicrogyria	Bilateral perisylvian polymicrogyria
Orphanet:163209	Orphanet:35981	\N	"" []	Orphanet:98889	"" []	1164844	\N	\N	EFO	3	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Bilateral perisylvian polymicrogyria
Orphanet:183763	Orphanet:35981	\N	"" []	Orphanet:98889	"" []	1164845	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Bilateral perisylvian polymicrogyria
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:98889	"" []	2048745	\N	\N	EFO	4	EFO	Cerebral malformation with epilepsy	Bilateral perisylvian polymicrogyria
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:98889	"" []	2048746	\N	\N	EFO	4	EFO	Genetic cerebral malformation	Bilateral perisylvian polymicrogyria
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:98889	"" []	2048747	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Bilateral perisylvian polymicrogyria
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:98889	"" []	3198800	\N	\N	EFO	5	EFO	Rare genetic epilepsy	Bilateral perisylvian polymicrogyria
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:98889	"" []	3198801	\N	\N	EFO	5	EFO	Genetic non-syndromic central nervous system malformation	Bilateral perisylvian polymicrogyria
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:98889	"" []	3198802	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Bilateral perisylvian polymicrogyria
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:98889	"" []	4404106	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Bilateral perisylvian polymicrogyria
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:98889	"" []	4404107	\N	\N	EFO	6	EFO	Genetic central nervous system malformation	Bilateral perisylvian polymicrogyria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98889	"" []	6153908	\N	\N	EFO	8	EFO	genetic disorder	Bilateral perisylvian polymicrogyria
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:98889	"" []	5419820	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Bilateral perisylvian polymicrogyria
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:98889	"" []	5419821	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Bilateral perisylvian polymicrogyria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98889	"" []	6471156	\N	\N	EFO	9	EFO	disease	Bilateral perisylvian polymicrogyria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98889	"" []	6153907	\N	\N	EFO	8	EFO	genetic disorder	Bilateral perisylvian polymicrogyria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98889	"" []	6848945	\N	\N	EFO	10	EFO	disposition	Bilateral perisylvian polymicrogyria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98889	"" []	7068578	\N	\N	EFO	11	EFO	material property	Bilateral perisylvian polymicrogyria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98889	"" []	7197174	\N	\N	EFO	12	EFO	experimental factor	Bilateral perisylvian polymicrogyria
Orphanet:98890	\N	\N	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	79097	\N	\N	EFO	0	EFO	Early-onset X-linked optic atrophy	Early-onset X-linked optic atrophy
Orphanet:98464	Orphanet:98890	\N	"" []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	224094	\N	\N	EFO	1	EFO	X-linked syndromic intellectual disability	Early-onset X-linked optic atrophy
Orphanet:98678	Orphanet:98890	\N	"" []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	224095	\N	\N	EFO	1	EFO	X-linked recessive optic atrophy	Early-onset X-linked optic atrophy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	580840	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Early-onset X-linked optic atrophy
Orphanet:103	Orphanet:98678	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	580841	\N	\N	EFO	2	EFO	Genetic optic atrophy	Early-onset X-linked optic atrophy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	1164846	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Early-onset X-linked optic atrophy
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	1164847	\N	\N	EFO	3	EFO	Optic neuropathy	Early-onset X-linked optic atrophy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	2048748	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Early-onset X-linked optic atrophy
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	2048749	\N	\N	EFO	4	EFO	Rare genetic eye disease	Early-onset X-linked optic atrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	3198803	\N	\N	EFO	5	EFO	genetic disorder	Early-onset X-linked optic atrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	3198804	\N	\N	EFO	5	EFO	genetic disorder	Early-onset X-linked optic atrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	3198805	\N	\N	EFO	5	EFO	eye disease	Early-onset X-linked optic atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	4404109	\N	\N	EFO	6	EFO	disease	Early-onset X-linked optic atrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	4404110	\N	\N	EFO	6	EFO	disease	Early-onset X-linked optic atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	5419823	\N	\N	EFO	7	EFO	disposition	Early-onset X-linked optic atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	6153910	\N	\N	EFO	8	EFO	material property	Early-onset X-linked optic atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98890	"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." []	6634657	\N	\N	EFO	9	EFO	experimental factor	Early-onset X-linked optic atrophy
Orphanet:98892	\N	\N	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	79098	\N	\N	EFO	0	EFO	Periventricular nodular heterotopia	Periventricular nodular heterotopia
Orphanet:2149	Orphanet:98892	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	224096	\N	\N	EFO	1	EFO	Nodular neuronal heterotopia	Periventricular nodular heterotopia
Orphanet:163209	Orphanet:2149	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	580842	\N	\N	EFO	2	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Periventricular nodular heterotopia
Orphanet:183763	Orphanet:2149	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	580843	\N	\N	EFO	2	EFO	Rare genetic intellectual disability with developmental anomaly	Periventricular nodular heterotopia
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	1164848	\N	\N	EFO	3	EFO	Cerebral malformation with epilepsy	Periventricular nodular heterotopia
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	1164849	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Periventricular nodular heterotopia
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	1164850	\N	\N	EFO	3	EFO	Rare genetic intellectual disability	Periventricular nodular heterotopia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	2048750	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Periventricular nodular heterotopia
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	2048751	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Periventricular nodular heterotopia
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	2048752	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Periventricular nodular heterotopia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	3198806	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Periventricular nodular heterotopia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	3198807	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Periventricular nodular heterotopia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	5419825	\N	\N	EFO	7	EFO	genetic disorder	Periventricular nodular heterotopia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	4404112	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Periventricular nodular heterotopia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	4404113	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Periventricular nodular heterotopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	5877927	\N	\N	EFO	8	EFO	disease	Periventricular nodular heterotopia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	5419824	\N	\N	EFO	7	EFO	genetic disorder	Periventricular nodular heterotopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	6471157	\N	\N	EFO	9	EFO	disposition	Periventricular nodular heterotopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	6848946	\N	\N	EFO	10	EFO	material property	Periventricular nodular heterotopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98892	"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." []	7068579	\N	\N	EFO	11	EFO	experimental factor	Periventricular nodular heterotopia
Orphanet:98893	\N	\N	"" []	Orphanet:98893	"" []	79099	\N	\N	EFO	0	EFO	Congenital muscular dystrophy type 1B	Congenital muscular dystrophy type 1B
Orphanet:97242	Orphanet:98893	\N	" and Nesprin-1-related CMD; see these terms)." []	Orphanet:98893	"" []	224097	\N	\N	EFO	1	EFO	Congenital muscular dystrophy	Congenital muscular dystrophy type 1B
Orphanet:98473	Orphanet:97242	\N	"" []	Orphanet:98893	"" []	580844	\N	\N	EFO	2	EFO	Muscular dystrophy	Congenital muscular dystrophy type 1B
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:98893	"" []	1164851	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital muscular dystrophy type 1B
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98893	"" []	2048753	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital muscular dystrophy type 1B
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98893	"" []	3198809	\N	\N	EFO	5	EFO	muscular disease	Congenital muscular dystrophy type 1B
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98893	"" []	3198810	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital muscular dystrophy type 1B
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98893	"" []	4404115	\N	\N	EFO	6	EFO	skeletal system disease	Congenital muscular dystrophy type 1B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98893	"" []	4404116	\N	\N	EFO	6	EFO	genetic disorder	Congenital muscular dystrophy type 1B
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98893	"" []	5419827	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy type 1B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98893	"" []	5419828	\N	\N	EFO	7	EFO	disease	Congenital muscular dystrophy type 1B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98893	"" []	6153912	\N	\N	EFO	8	EFO	disposition	Congenital muscular dystrophy type 1B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98893	"" []	6634659	\N	\N	EFO	9	EFO	material property	Congenital muscular dystrophy type 1B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98893	"" []	6926422	\N	\N	EFO	10	EFO	experimental factor	Congenital muscular dystrophy type 1B
Orphanet:98895	\N	\N	"" []	Orphanet:98895	"" []	79100	\N	\N	EFO	0	EFO	Becker muscular dystrophy	Becker muscular dystrophy
Orphanet:207085	Orphanet:98895	\N	"" []	Orphanet:98895	"" []	224098	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of dystrophin	Becker muscular dystrophy
Orphanet:262	Orphanet:98895	\N	"" []	Orphanet:98895	"" []	224099	\N	\N	EFO	1	EFO	Duchenne and Becker muscular dystrophy	Becker muscular dystrophy
Orphanet:207049	Orphanet:207085	\N	"" []	Orphanet:98895	"" []	580845	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Becker muscular dystrophy
Orphanet:206644	Orphanet:262	\N	"" []	Orphanet:98895	"" []	580846	\N	\N	EFO	2	EFO	Progressive muscular dystrophy	Becker muscular dystrophy
Orphanet:217610	Orphanet:262	\N	"" []	Orphanet:98895	"" []	580847	\N	\N	EFO	2	EFO	Neuromuscular disease with dilated cardiomyopathy	Becker muscular dystrophy
Orphanet:98464	Orphanet:262	\N	"" []	Orphanet:98895	"" []	580848	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Becker muscular dystrophy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:98895	"" []	1164852	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Becker muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:98895	"" []	1164853	\N	\N	EFO	3	EFO	Muscular dystrophy	Becker muscular dystrophy
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:98895	"" []	1164854	\N	\N	EFO	3	EFO	Familial dilated cardiomyopathy	Becker muscular dystrophy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:98895	"" []	1164855	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Becker muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98895	"" []	4404119	\N	\N	EFO	6	EFO	muscular disease	Becker muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98895	"" []	4404120	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Becker muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:98895	"" []	2048756	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Becker muscular dystrophy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:98895	"" []	2048757	\N	\N	EFO	4	EFO	cardiomyopathy	Becker muscular dystrophy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:98895	"" []	2048758	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Becker muscular dystrophy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:98895	"" []	2048759	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Becker muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98895	"" []	5060362	\N	\N	EFO	7	EFO	skeletal system disease	Becker muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98895	"" []	5060363	\N	\N	EFO	7	EFO	genetic disorder	Becker muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98895	"" []	3198813	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Becker muscular dystrophy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98895	"" []	3198814	\N	\N	EFO	5	EFO	heart disease	Becker muscular dystrophy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98895	"" []	3198815	\N	\N	EFO	5	EFO	genetic disorder	Becker muscular dystrophy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98895	"" []	3198816	\N	\N	EFO	5	EFO	heart disease	Becker muscular dystrophy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:98895	"" []	3198817	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Becker muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98895	"" []	5877928	\N	\N	EFO	8	EFO	disease	Becker muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98895	"" []	5877929	\N	\N	EFO	8	EFO	disease	Becker muscular dystrophy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:98895	"" []	4404121	\N	\N	EFO	6	EFO	cardiovascular disease	Becker muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98895	"" []	6471158	\N	\N	EFO	9	EFO	disposition	Becker muscular dystrophy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98895	"" []	5419830	\N	\N	EFO	7	EFO	disease	Becker muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98895	"" []	6848947	\N	\N	EFO	10	EFO	material property	Becker muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98895	"" []	7068580	\N	\N	EFO	11	EFO	experimental factor	Becker muscular dystrophy
Orphanet:98896	\N	\N	"" []	Orphanet:98896	"" []	79101	\N	\N	EFO	0	EFO	Duchenne muscular dystrophy	Duchenne muscular dystrophy
Orphanet:207085	Orphanet:98896	\N	"" []	Orphanet:98896	"" []	224100	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of dystrophin	Duchenne muscular dystrophy
Orphanet:262	Orphanet:98896	\N	"" []	Orphanet:98896	"" []	224101	\N	\N	EFO	1	EFO	Duchenne and Becker muscular dystrophy	Duchenne muscular dystrophy
Orphanet:98689	Orphanet:98896	\N	"" []	Orphanet:98896	"" []	224102	\N	\N	EFO	1	EFO	Myopathy with eye involvement	Duchenne muscular dystrophy
Orphanet:207049	Orphanet:207085	\N	"" []	Orphanet:98896	"" []	580849	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Duchenne muscular dystrophy
Orphanet:206644	Orphanet:262	\N	"" []	Orphanet:98896	"" []	580850	\N	\N	EFO	2	EFO	Progressive muscular dystrophy	Duchenne muscular dystrophy
Orphanet:217610	Orphanet:262	\N	"" []	Orphanet:98896	"" []	580851	\N	\N	EFO	2	EFO	Neuromuscular disease with dilated cardiomyopathy	Duchenne muscular dystrophy
Orphanet:98464	Orphanet:262	\N	"" []	Orphanet:98896	"" []	580852	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	Duchenne muscular dystrophy
Orphanet:183616	Orphanet:98689	\N	"" []	Orphanet:98896	"" []	580853	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Duchenne muscular dystrophy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:98896	"" []	1164856	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Duchenne muscular dystrophy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:98896	"" []	1164857	\N	\N	EFO	3	EFO	Muscular dystrophy	Duchenne muscular dystrophy
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:98896	"" []	1164858	\N	\N	EFO	3	EFO	Familial dilated cardiomyopathy	Duchenne muscular dystrophy
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:98896	"" []	1164859	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Duchenne muscular dystrophy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98896	"" []	1164860	\N	\N	EFO	3	EFO	Rare genetic eye disease	Duchenne muscular dystrophy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98896	"" []	4404125	\N	\N	EFO	6	EFO	muscular disease	Duchenne muscular dystrophy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98896	"" []	4404126	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Duchenne muscular dystrophy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:98896	"" []	2048762	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Duchenne muscular dystrophy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:98896	"" []	2048763	\N	\N	EFO	4	EFO	cardiomyopathy	Duchenne muscular dystrophy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:98896	"" []	2048764	\N	\N	EFO	4	EFO	Rare genetic cardiac disease	Duchenne muscular dystrophy
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:98896	"" []	2048765	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Duchenne muscular dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98896	"" []	2048766	\N	\N	EFO	4	EFO	genetic disorder	Duchenne muscular dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98896	"" []	2048767	\N	\N	EFO	4	EFO	eye disease	Duchenne muscular dystrophy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98896	"" []	5060364	\N	\N	EFO	7	EFO	skeletal system disease	Duchenne muscular dystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98896	"" []	5060365	\N	\N	EFO	7	EFO	genetic disorder	Duchenne muscular dystrophy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98896	"" []	3198820	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Duchenne muscular dystrophy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98896	"" []	3198821	\N	\N	EFO	5	EFO	heart disease	Duchenne muscular dystrophy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98896	"" []	3198822	\N	\N	EFO	5	EFO	genetic disorder	Duchenne muscular dystrophy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98896	"" []	3198823	\N	\N	EFO	5	EFO	heart disease	Duchenne muscular dystrophy
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:98896	"" []	3198824	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Duchenne muscular dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98896	"" []	5877931	\N	\N	EFO	8	EFO	disease	Duchenne muscular dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98896	"" []	3198826	\N	\N	EFO	5	EFO	disease	Duchenne muscular dystrophy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98896	"" []	5877930	\N	\N	EFO	8	EFO	disease	Duchenne muscular dystrophy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:98896	"" []	4404127	\N	\N	EFO	6	EFO	cardiovascular disease	Duchenne muscular dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98896	"" []	6410479	\N	\N	EFO	9	EFO	disposition	Duchenne muscular dystrophy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98896	"" []	5419831	\N	\N	EFO	7	EFO	disease	Duchenne muscular dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98896	"" []	6808277	\N	\N	EFO	10	EFO	material property	Duchenne muscular dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98896	"" []	7048891	\N	\N	EFO	11	EFO	experimental factor	Duchenne muscular dystrophy
Orphanet:98897	\N	\N	"" []	Orphanet:98897	"" []	79102	\N	\N	EFO	0	EFO	Oculopharyngodistal myopathy	Oculopharyngodistal myopathy
Orphanet:206644	Orphanet:98897	\N	"" []	Orphanet:98897	"" []	224103	\N	\N	EFO	1	EFO	Progressive muscular dystrophy	Oculopharyngodistal myopathy
Orphanet:599	Orphanet:98897	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:98897	"" []	224104	\N	\N	EFO	1	EFO	Distal myopathy	Oculopharyngodistal myopathy
Orphanet:98578	Orphanet:98897	\N	"" []	Orphanet:98897	"" []	224105	\N	\N	EFO	1	EFO	Ptosis	Oculopharyngodistal myopathy
Orphanet:98473	Orphanet:206644	\N	"" []	Orphanet:98897	"" []	580854	\N	\N	EFO	2	EFO	Muscular dystrophy	Oculopharyngodistal myopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:98897	"" []	580855	\N	\N	EFO	2	EFO	Genetic skeletal muscle disease	Oculopharyngodistal myopathy
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:98897	"" []	580856	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Oculopharyngodistal myopathy
Orphanet:206634	Orphanet:98473	\N	"" []	Orphanet:98897	"" []	1164861	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Oculopharyngodistal myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98897	"" []	2048768	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Oculopharyngodistal myopathy
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:98897	"" []	1164863	\N	\N	EFO	3	EFO	Rare palpebral disease	Oculopharyngodistal myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98897	"" []	3000502	\N	\N	EFO	5	EFO	muscular disease	Oculopharyngodistal myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98897	"" []	3000503	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Oculopharyngodistal myopathy
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98897	"" []	2048771	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Oculopharyngodistal myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98897	"" []	4134570	\N	\N	EFO	6	EFO	skeletal system disease	Oculopharyngodistal myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98897	"" []	4134571	\N	\N	EFO	6	EFO	genetic disorder	Oculopharyngodistal myopathy
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98897	"" []	3198829	\N	\N	EFO	5	EFO	Rare genetic eye disease	Oculopharyngodistal myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98897	"" []	5183766	\N	\N	EFO	7	EFO	disease	Oculopharyngodistal myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98897	"" []	5183767	\N	\N	EFO	7	EFO	disease	Oculopharyngodistal myopathy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98897	"" []	4404132	\N	\N	EFO	6	EFO	genetic disorder	Oculopharyngodistal myopathy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98897	"" []	4404133	\N	\N	EFO	6	EFO	eye disease	Oculopharyngodistal myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98897	"" []	5999086	\N	\N	EFO	8	EFO	disposition	Oculopharyngodistal myopathy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98897	"" []	5419834	\N	\N	EFO	7	EFO	disease	Oculopharyngodistal myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98897	"" []	6552055	\N	\N	EFO	9	EFO	material property	Oculopharyngodistal myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98897	"" []	6889647	\N	\N	EFO	10	EFO	experimental factor	Oculopharyngodistal myopathy
Orphanet:989	\N	\N	"" []	Orphanet:989	"" []	79103	\N	\N	EFO	0	EFO	Hypoglossia - hypodactyly	Hypoglossia - hypodactyly
Orphanet:183576	Orphanet:989	\N	"" []	Orphanet:989	"" []	224106	\N	\N	EFO	1	EFO	Genetic branchial arch or oral-acral syndrome	Hypoglossia - hypodactyly
Orphanet:2749	Orphanet:989	\N	"" []	Orphanet:989	"" []	224107	\N	\N	EFO	1	EFO	Oromandibular-limb hypogenesis syndrome	Hypoglossia - hypodactyly
Orphanet:330197	Orphanet:989	\N	"" []	Orphanet:989	"" []	224108	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Hypoglossia - hypodactyly
Orphanet:404574	Orphanet:989	\N	"" []	Orphanet:989	"" []	224109	\N	\N	EFO	1	EFO	Genetic syndrome with limb reduction defects	Hypoglossia - hypodactyly
Orphanet:183530	Orphanet:183576	\N	"" []	Orphanet:989	"" []	580857	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Hypoglossia - hypodactyly
Orphanet:156215	Orphanet:2749	\N	"" []	Orphanet:989	"" []	580858	\N	\N	EFO	2	EFO	Oromandibular-limb anomalies syndrome	Hypoglossia - hypodactyly
Orphanet:364571	Orphanet:2749	\N	"" []	Orphanet:989	"" []	580859	\N	\N	EFO	2	EFO	Dysostosis with limb and face anomalies as a major feature	Hypoglossia - hypodactyly
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:989	"" []	580860	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Hypoglossia - hypodactyly
Orphanet:404571	Orphanet:404574	\N	"" []	Orphanet:989	"" []	580861	\N	\N	EFO	2	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Hypoglossia - hypodactyly
Orphanet:404577	Orphanet:404574	\N	"" []	Orphanet:989	"" []	580862	\N	\N	EFO	2	EFO	Genetic syndrome with limb malformations as a major feature	Hypoglossia - hypodactyly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:989	"" []	5183770	\N	\N	EFO	7	EFO	genetic disorder	Hypoglossia - hypodactyly
Orphanet:156212	Orphanet:156215	\N	"" []	Orphanet:989	"" []	1164865	\N	\N	EFO	3	EFO	Hypoglossia/aglossia	Hypoglossia - hypodactyly
Orphanet:404571	Orphanet:364571	\N	"" []	Orphanet:989	"" []	1164866	\N	\N	EFO	3	EFO	Dysostosis of genetic origin with limb anomaly as a major feature	Hypoglossia - hypodactyly
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:989	"" []	1164867	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Hypoglossia - hypodactyly
Orphanet:404568	Orphanet:404571	\N	"" []	Orphanet:989	"" []	2048774	\N	\N	EFO	4	EFO	Dysostosis of genetic origin	Hypoglossia - hypodactyly
Orphanet:183536	Orphanet:404577	\N	"" []	Orphanet:989	"" []	1164869	\N	\N	EFO	3	EFO	Genetic congenital limb malformation	Hypoglossia - hypodactyly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:989	"" []	5801911	\N	\N	EFO	8	EFO	disease	Hypoglossia - hypodactyly
Orphanet:183583	Orphanet:156212	\N	"" []	Orphanet:989	"" []	2048773	\N	\N	EFO	4	EFO	Genetic head and neck malformation	Hypoglossia - hypodactyly
Orphanet:183524	Orphanet:404568	\N	"" []	Orphanet:989	"" []	3000505	\N	\N	EFO	5	EFO	Rare genetic bone disease	Hypoglossia - hypodactyly
Orphanet:404584	Orphanet:404568	\N	"" []	Orphanet:989	"" []	3000506	\N	\N	EFO	5	EFO	Rare genetic bone development disorder	Hypoglossia - hypodactyly
Orphanet:183530	Orphanet:183536	\N	"" []	Orphanet:989	"" []	2048778	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Hypoglossia - hypodactyly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:989	"" []	6379034	\N	\N	EFO	9	EFO	disposition	Hypoglossia - hypodactyly
Orphanet:183530	Orphanet:183583	\N	"" []	Orphanet:989	"" []	3198831	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Hypoglossia - hypodactyly
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:989	"" []	4134573	\N	\N	EFO	6	EFO	genetic disorder	Hypoglossia - hypodactyly
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:989	"" []	4134574	\N	\N	EFO	6	EFO	bone disease	Hypoglossia - hypodactyly
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:989	"" []	4134575	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Hypoglossia - hypodactyly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:989	"" []	6778872	\N	\N	EFO	10	EFO	material property	Hypoglossia - hypodactyly
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:989	"" []	5183769	\N	\N	EFO	7	EFO	skeletal system disease	Hypoglossia - hypodactyly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:989	"" []	7030058	\N	\N	EFO	11	EFO	experimental factor	Hypoglossia - hypodactyly
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:989	"" []	5999088	\N	\N	EFO	8	EFO	disease	Hypoglossia - hypodactyly
Orphanet:98902	\N	\N	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	79104	\N	\N	EFO	0	EFO	Amish nemaline myopathy	Amish nemaline myopathy
Orphanet:284786	Orphanet:98902	\N	"" []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	224110	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of troponin	Amish nemaline myopathy
Orphanet:607	Orphanet:98902	\N	"Nemaline myopathy (NM) encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	224111	\N	\N	EFO	1	EFO	Nemaline myopathy	Amish nemaline myopathy
Orphanet:207049	Orphanet:284786	\N	"" []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	580863	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Amish nemaline myopathy
Orphanet:97245	Orphanet:607	\N	"" []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	580864	\N	\N	EFO	2	EFO	Congenital myopathy	Amish nemaline myopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	1164870	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Amish nemaline myopathy
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	1164871	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Amish nemaline myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	4404139	\N	\N	EFO	6	EFO	muscular disease	Amish nemaline myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	4404140	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Amish nemaline myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	2048781	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Amish nemaline myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	5060367	\N	\N	EFO	7	EFO	skeletal system disease	Amish nemaline myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	5060368	\N	\N	EFO	7	EFO	genetic disorder	Amish nemaline myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	3198838	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Amish nemaline myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	5877934	\N	\N	EFO	8	EFO	disease	Amish nemaline myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	5877935	\N	\N	EFO	8	EFO	disease	Amish nemaline myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	6471161	\N	\N	EFO	9	EFO	disposition	Amish nemaline myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	6848949	\N	\N	EFO	10	EFO	material property	Amish nemaline myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98902	"Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." []	7068581	\N	\N	EFO	11	EFO	experimental factor	Amish nemaline myopathy
Orphanet:98904	\N	\N	"" []	Orphanet:98904	"" []	79105	\N	\N	EFO	0	EFO	Congenital myopathy with excess of thin filaments	Congenital myopathy with excess of thin filaments
Orphanet:209059	Orphanet:98904	\N	"" []	Orphanet:98904	"" []	224112	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of alpha-actin	Congenital myopathy with excess of thin filaments
Orphanet:97245	Orphanet:98904	\N	"" []	Orphanet:98904	"" []	224113	\N	\N	EFO	1	EFO	Congenital myopathy	Congenital myopathy with excess of thin filaments
Orphanet:207049	Orphanet:209059	\N	"" []	Orphanet:98904	"" []	580865	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Congenital myopathy with excess of thin filaments
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:98904	"" []	580866	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Congenital myopathy with excess of thin filaments
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:98904	"" []	1164872	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Congenital myopathy with excess of thin filaments
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:98904	"" []	1164873	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Congenital myopathy with excess of thin filaments
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98904	"" []	3198841	\N	\N	EFO	5	EFO	muscular disease	Congenital myopathy with excess of thin filaments
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98904	"" []	3198842	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Congenital myopathy with excess of thin filaments
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98904	"" []	2048784	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital myopathy with excess of thin filaments
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98904	"" []	4134576	\N	\N	EFO	6	EFO	skeletal system disease	Congenital myopathy with excess of thin filaments
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98904	"" []	4134577	\N	\N	EFO	6	EFO	genetic disorder	Congenital myopathy with excess of thin filaments
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98904	"" []	5183771	\N	\N	EFO	7	EFO	disease	Congenital myopathy with excess of thin filaments
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98904	"" []	5183772	\N	\N	EFO	7	EFO	disease	Congenital myopathy with excess of thin filaments
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98904	"" []	5999089	\N	\N	EFO	8	EFO	disposition	Congenital myopathy with excess of thin filaments
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98904	"" []	6552056	\N	\N	EFO	9	EFO	material property	Congenital myopathy with excess of thin filaments
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98904	"" []	6889648	\N	\N	EFO	10	EFO	experimental factor	Congenital myopathy with excess of thin filaments
Orphanet:98905	\N	\N	"" []	Orphanet:98905	"" []	79106	\N	\N	EFO	0	EFO	Congenital multicore myopathy with external ophthalmoplegia	Congenital multicore myopathy with external ophthalmoplegia
Orphanet:598	Orphanet:98905	\N	"" []	Orphanet:98905	"" []	224114	\N	\N	EFO	1	EFO	Multiminicore myopathy	Congenital multicore myopathy with external ophthalmoplegia
Orphanet:172976	Orphanet:598	\N	"" []	Orphanet:98905	"" []	580867	\N	\N	EFO	2	EFO	Congenital myopathy with cores	Congenital multicore myopathy with external ophthalmoplegia
Orphanet:209193	Orphanet:598	\N	"" []	Orphanet:98905	"" []	580868	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of selenoprotein N1	Congenital multicore myopathy with external ophthalmoplegia
Orphanet:97245	Orphanet:172976	\N	"" []	Orphanet:98905	"" []	1164874	\N	\N	EFO	3	EFO	Congenital myopathy	Congenital multicore myopathy with external ophthalmoplegia
Orphanet:207049	Orphanet:209193	\N	"" []	Orphanet:98905	"" []	1164875	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Congenital multicore myopathy with external ophthalmoplegia
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:98905	"" []	2048785	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Congenital multicore myopathy with external ophthalmoplegia
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:98905	"" []	2048786	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Congenital multicore myopathy with external ophthalmoplegia
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:98905	"" []	3198843	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Congenital multicore myopathy with external ophthalmoplegia
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98905	"" []	5419839	\N	\N	EFO	7	EFO	muscular disease	Congenital multicore myopathy with external ophthalmoplegia
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98905	"" []	5419840	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Congenital multicore myopathy with external ophthalmoplegia
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98905	"" []	4404143	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Congenital multicore myopathy with external ophthalmoplegia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98905	"" []	5877936	\N	\N	EFO	8	EFO	skeletal system disease	Congenital multicore myopathy with external ophthalmoplegia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98905	"" []	5877937	\N	\N	EFO	8	EFO	genetic disorder	Congenital multicore myopathy with external ophthalmoplegia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98905	"" []	6471162	\N	\N	EFO	9	EFO	disease	Congenital multicore myopathy with external ophthalmoplegia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98905	"" []	6471163	\N	\N	EFO	9	EFO	disease	Congenital multicore myopathy with external ophthalmoplegia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98905	"" []	6848950	\N	\N	EFO	10	EFO	disposition	Congenital multicore myopathy with external ophthalmoplegia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98905	"" []	7068582	\N	\N	EFO	11	EFO	material property	Congenital multicore myopathy with external ophthalmoplegia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98905	"" []	7197175	\N	\N	EFO	12	EFO	experimental factor	Congenital multicore myopathy with external ophthalmoplegia
Orphanet:98907	\N	\N	"" []	Orphanet:98907	"" []	79107	\N	\N	EFO	0	EFO	Dorfman-Chanarin disease	Dorfman-Chanarin disease
Orphanet:165	Orphanet:98907	\N	"" []	Orphanet:98907	"" []	224115	\N	\N	EFO	1	EFO	Neutral lipid storage disease	Dorfman-Chanarin disease
Orphanet:281244	Orphanet:98907	\N	"" []	Orphanet:98907	"" []	224116	\N	\N	EFO	1	EFO	Autosomal ichthyosis syndrome with other associated signs	Dorfman-Chanarin disease
Orphanet:98699	Orphanet:98907	\N	"" []	Orphanet:98907	"" []	224117	\N	\N	EFO	1	EFO	Syndromic ichthyosis associated with ocular features	Dorfman-Chanarin disease
Orphanet:206953	Orphanet:165	\N	"" []	Orphanet:98907	"" []	580869	\N	\N	EFO	2	EFO	Muscular lipidosis	Dorfman-Chanarin disease
Orphanet:352312	Orphanet:165	\N	"" []	Orphanet:98907	"" []	580870	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	Dorfman-Chanarin disease
Orphanet:281217	Orphanet:281244	\N	"" []	Orphanet:98907	"" []	580871	\N	\N	EFO	2	EFO	Autosomal ichthyosis syndrome	Dorfman-Chanarin disease
Orphanet:98697	Orphanet:98699	\N	"" []	Orphanet:98907	"" []	580872	\N	\N	EFO	2	EFO	Genetic keratinization disorder associated with ocular features	Dorfman-Chanarin disease
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:98907	"" []	1164876	\N	\N	EFO	3	EFO	Metabolic myopathy	Dorfman-Chanarin disease
Orphanet:352301	Orphanet:352312	\N	"" []	Orphanet:98907	"" []	1164877	\N	\N	EFO	3	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Dorfman-Chanarin disease
Orphanet:281085	Orphanet:281217	\N	"" []	Orphanet:98907	"" []	1164878	\N	\N	EFO	3	EFO	Inherited ichthyosis syndromic form	Dorfman-Chanarin disease
Orphanet:98696	Orphanet:98697	\N	"" []	Orphanet:98907	"" []	1164879	\N	\N	EFO	3	EFO	Genodermatosis with ocular features	Dorfman-Chanarin disease
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:98907	"" []	2048787	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Dorfman-Chanarin disease
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:98907	"" []	2048788	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Dorfman-Chanarin disease
Orphanet:183435	Orphanet:281085	\N	"" []	Orphanet:98907	"" []	2048789	\N	\N	EFO	4	EFO	Inherited ichthyosis	Dorfman-Chanarin disease
Orphanet:101435	Orphanet:98696	\N	"" []	Orphanet:98907	"" []	2048790	\N	\N	EFO	4	EFO	Rare genetic eye disease	Dorfman-Chanarin disease
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:98907	"" []	3198846	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Dorfman-Chanarin disease
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:98907	"" []	3198847	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Dorfman-Chanarin disease
Orphanet:183426	Orphanet:183435	\N	"" []	Orphanet:98907	"" []	3198848	\N	\N	EFO	5	EFO	Genetic epidermal disorder	Dorfman-Chanarin disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98907	"" []	3198849	\N	\N	EFO	5	EFO	genetic disorder	Dorfman-Chanarin disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98907	"" []	3198850	\N	\N	EFO	5	EFO	eye disease	Dorfman-Chanarin disease
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98907	"" []	4404146	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Dorfman-Chanarin disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98907	"" []	4404147	\N	\N	EFO	6	EFO	genetic disorder	Dorfman-Chanarin disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:98907	"" []	4404148	\N	\N	EFO	6	EFO	metabolic disease	Dorfman-Chanarin disease
Orphanet:68346	Orphanet:183426	\N	"" []	Orphanet:98907	"" []	4404149	\N	\N	EFO	6	EFO	Rare genetic skin disease	Dorfman-Chanarin disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98907	"" []	6634666	\N	\N	EFO	9	EFO	disease	Dorfman-Chanarin disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98907	"" []	4404151	\N	\N	EFO	6	EFO	disease	Dorfman-Chanarin disease
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98907	"" []	5419843	\N	\N	EFO	7	EFO	muscular disease	Dorfman-Chanarin disease
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98907	"" []	5419844	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Dorfman-Chanarin disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98907	"" []	5419846	\N	\N	EFO	7	EFO	disease	Dorfman-Chanarin disease
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98907	"" []	5419847	\N	\N	EFO	7	EFO	genetic disorder	Dorfman-Chanarin disease
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:98907	"" []	5419848	\N	\N	EFO	7	EFO	skin disease	Dorfman-Chanarin disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98907	"" []	6808279	\N	\N	EFO	10	EFO	disposition	Dorfman-Chanarin disease
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98907	"" []	6153919	\N	\N	EFO	8	EFO	skeletal system disease	Dorfman-Chanarin disease
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98907	"" []	6153920	\N	\N	EFO	8	EFO	genetic disorder	Dorfman-Chanarin disease
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98907	"" []	6153922	\N	\N	EFO	8	EFO	disease	Dorfman-Chanarin disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98907	"" []	7048892	\N	\N	EFO	11	EFO	material property	Dorfman-Chanarin disease
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98907	"" []	6634665	\N	\N	EFO	9	EFO	disease	Dorfman-Chanarin disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98907	"" []	7190284	\N	\N	EFO	12	EFO	experimental factor	Dorfman-Chanarin disease
Orphanet:98908	\N	\N	"" []	Orphanet:98908	"" []	79108	\N	\N	EFO	0	EFO	Neutral lipid storage myopathy	Neutral lipid storage myopathy
Orphanet:165	Orphanet:98908	\N	"" []	Orphanet:98908	"" []	224118	\N	\N	EFO	1	EFO	Neutral lipid storage disease	Neutral lipid storage myopathy
Orphanet:206953	Orphanet:165	\N	"" []	Orphanet:98908	"" []	580873	\N	\N	EFO	2	EFO	Muscular lipidosis	Neutral lipid storage myopathy
Orphanet:352312	Orphanet:165	\N	"" []	Orphanet:98908	"" []	580874	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	Neutral lipid storage myopathy
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:98908	"" []	1164880	\N	\N	EFO	3	EFO	Metabolic myopathy	Neutral lipid storage myopathy
Orphanet:352301	Orphanet:352312	\N	"" []	Orphanet:98908	"" []	1164881	\N	\N	EFO	3	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Neutral lipid storage myopathy
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:98908	"" []	2048791	\N	\N	EFO	4	EFO	Non-dystrophic myopathy	Neutral lipid storage myopathy
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:98908	"" []	2048792	\N	\N	EFO	4	EFO	Disorder of lipid metabolism	Neutral lipid storage myopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:98908	"" []	3198851	\N	\N	EFO	5	EFO	Genetic skeletal muscle disease	Neutral lipid storage myopathy
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:98908	"" []	3198852	\N	\N	EFO	5	EFO	Inborn errors of metabolism	Neutral lipid storage myopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98908	"" []	4404152	\N	\N	EFO	6	EFO	Genetic neuromuscular disease	Neutral lipid storage myopathy
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98908	"" []	4404153	\N	\N	EFO	6	EFO	genetic disorder	Neutral lipid storage myopathy
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:98908	"" []	4404154	\N	\N	EFO	6	EFO	metabolic disease	Neutral lipid storage myopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98908	"" []	5419850	\N	\N	EFO	7	EFO	muscular disease	Neutral lipid storage myopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98908	"" []	5419851	\N	\N	EFO	7	EFO	Rare genetic neurological disorder	Neutral lipid storage myopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98908	"" []	6634669	\N	\N	EFO	9	EFO	disease	Neutral lipid storage myopathy
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98908	"" []	5419853	\N	\N	EFO	7	EFO	disease	Neutral lipid storage myopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98908	"" []	6153924	\N	\N	EFO	8	EFO	skeletal system disease	Neutral lipid storage myopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98908	"" []	6153925	\N	\N	EFO	8	EFO	genetic disorder	Neutral lipid storage myopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98908	"" []	6848952	\N	\N	EFO	10	EFO	disposition	Neutral lipid storage myopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98908	"" []	6634668	\N	\N	EFO	9	EFO	disease	Neutral lipid storage myopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98908	"" []	7068584	\N	\N	EFO	11	EFO	material property	Neutral lipid storage myopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98908	"" []	7197176	\N	\N	EFO	12	EFO	experimental factor	Neutral lipid storage myopathy
Orphanet:98909	\N	\N	"" []	Orphanet:98909	"" []	79109	\N	\N	EFO	0	EFO	Desminopathy	Desminopathy
Orphanet:206650	Orphanet:98909	\N	"" []	Orphanet:98909	"" []	224119	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Desminopathy
Orphanet:206662	Orphanet:98909	\N	"" []	Orphanet:98909	"" []	224120	\N	\N	EFO	1	EFO	Inclusion myopathy	Desminopathy
Orphanet:209041	Orphanet:98909	\N	"" []	Orphanet:98909	"" []	224121	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of desmin	Desminopathy
Orphanet:217610	Orphanet:98909	\N	"" []	Orphanet:98909	"" []	224122	\N	\N	EFO	1	EFO	Neuromuscular disease with dilated cardiomyopathy	Desminopathy
Orphanet:217635	Orphanet:98909	\N	"" []	Orphanet:98909	"" []	224123	\N	\N	EFO	1	EFO	Familial restrictive cardiomyopathy	Desminopathy
Orphanet:593	Orphanet:98909	\N	"" []	Orphanet:98909	"" []	224124	\N	\N	EFO	1	EFO	Myofibrillar myopathy	Desminopathy
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:98909	"" []	580875	\N	\N	EFO	2	EFO	Distal myopathy	Desminopathy
Orphanet:206656	Orphanet:206662	\N	"" []	Orphanet:98909	"" []	580876	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Desminopathy
Orphanet:209038	Orphanet:209041	\N	"" []	Orphanet:98909	"" []	580877	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of myofibrillar proteins	Desminopathy
Orphanet:217607	Orphanet:217610	\N	"" []	Orphanet:98909	"" []	580878	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Desminopathy
EFO:0000318	Orphanet:217635	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:98909	"" []	580879	\N	\N	EFO	2	EFO	cardiomyopathy	Desminopathy
Orphanet:98054	Orphanet:217635	\N	"" []	Orphanet:98909	"" []	580880	\N	\N	EFO	2	EFO	Rare genetic cardiac disease	Desminopathy
Orphanet:206656	Orphanet:593	\N	"" []	Orphanet:98909	"" []	580881	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Desminopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:98909	"" []	1164882	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Desminopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:98909	"" []	1164883	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Desminopathy
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:98909	"" []	1164884	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Desminopathy
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:98909	"" []	1164885	\N	\N	EFO	3	EFO	cardiomyopathy	Desminopathy
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:98909	"" []	1164886	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Desminopathy
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98909	"" []	2048795	\N	\N	EFO	4	EFO	heart disease	Desminopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98909	"" []	2048796	\N	\N	EFO	4	EFO	genetic disorder	Desminopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:98909	"" []	2048797	\N	\N	EFO	4	EFO	heart disease	Desminopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98909	"" []	2048793	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Desminopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:98909	"" []	2048794	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Desminopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:98909	"" []	3000507	\N	\N	EFO	5	EFO	cardiovascular disease	Desminopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98909	"" []	5419855	\N	\N	EFO	7	EFO	disease	Desminopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98909	"" []	3198853	\N	\N	EFO	5	EFO	muscular disease	Desminopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98909	"" []	3198854	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Desminopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98909	"" []	4134578	\N	\N	EFO	6	EFO	disease	Desminopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98909	"" []	5817938	\N	\N	EFO	8	EFO	disposition	Desminopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98909	"" []	4404155	\N	\N	EFO	6	EFO	skeletal system disease	Desminopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98909	"" []	4404156	\N	\N	EFO	6	EFO	genetic disorder	Desminopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98909	"" []	6410481	\N	\N	EFO	9	EFO	material property	Desminopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98909	"" []	5419854	\N	\N	EFO	7	EFO	disease	Desminopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98909	"" []	6808280	\N	\N	EFO	10	EFO	experimental factor	Desminopathy
Orphanet:98910	\N	\N	"" []	Orphanet:98910	"" []	79110	\N	\N	EFO	0	EFO	Alpha-crystallinopathy	Alpha-crystallinopathy
Orphanet:209044	Orphanet:98910	\N	"" []	Orphanet:98910	"" []	224125	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of alphaB-cristallin	Alpha-crystallinopathy
Orphanet:593	Orphanet:98910	\N	"" []	Orphanet:98910	"" []	224126	\N	\N	EFO	1	EFO	Myofibrillar myopathy	Alpha-crystallinopathy
Orphanet:209038	Orphanet:209044	\N	"" []	Orphanet:98910	"" []	580882	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of myofibrillar proteins	Alpha-crystallinopathy
Orphanet:206656	Orphanet:593	\N	"" []	Orphanet:98910	"" []	580883	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Alpha-crystallinopathy
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:98910	"" []	1164890	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Alpha-crystallinopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:98910	"" []	1164891	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Alpha-crystallinopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:98910	"" []	2048800	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Alpha-crystallinopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98910	"" []	2048801	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Alpha-crystallinopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98910	"" []	3198857	\N	\N	EFO	5	EFO	muscular disease	Alpha-crystallinopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98910	"" []	3198858	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Alpha-crystallinopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98910	"" []	4404158	\N	\N	EFO	6	EFO	skeletal system disease	Alpha-crystallinopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98910	"" []	4404159	\N	\N	EFO	6	EFO	genetic disorder	Alpha-crystallinopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98910	"" []	5419857	\N	\N	EFO	7	EFO	disease	Alpha-crystallinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98910	"" []	5419858	\N	\N	EFO	7	EFO	disease	Alpha-crystallinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98910	"" []	6153927	\N	\N	EFO	8	EFO	disposition	Alpha-crystallinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98910	"" []	6634671	\N	\N	EFO	9	EFO	material property	Alpha-crystallinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98910	"" []	6926425	\N	\N	EFO	10	EFO	experimental factor	Alpha-crystallinopathy
Orphanet:98911	\N	\N	"" []	Orphanet:98911	"" []	79111	\N	\N	EFO	0	EFO	Distal myotilinopathy	Distal myotilinopathy
Orphanet:206650	Orphanet:98911	\N	"" []	Orphanet:98911	"" []	224127	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Distal myotilinopathy
Orphanet:209224	Orphanet:98911	\N	"" []	Orphanet:98911	"" []	224128	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of myotilin	Distal myotilinopathy
Orphanet:593	Orphanet:98911	\N	"" []	Orphanet:98911	"" []	224129	\N	\N	EFO	1	EFO	Myofibrillar myopathy	Distal myotilinopathy
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:98911	"" []	580884	\N	\N	EFO	2	EFO	Distal myopathy	Distal myotilinopathy
Orphanet:207049	Orphanet:209224	\N	"" []	Orphanet:98911	"" []	580885	\N	\N	EFO	2	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Distal myotilinopathy
Orphanet:206656	Orphanet:593	\N	"" []	Orphanet:98911	"" []	580886	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Distal myotilinopathy
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:98911	"" []	1164892	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Distal myotilinopathy
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:98911	"" []	1164893	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Distal myotilinopathy
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:98911	"" []	1164894	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Distal myotilinopathy
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98911	"" []	2048802	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Distal myotilinopathy
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98911	"" []	3198859	\N	\N	EFO	5	EFO	muscular disease	Distal myotilinopathy
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98911	"" []	3198860	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Distal myotilinopathy
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98911	"" []	4134580	\N	\N	EFO	6	EFO	skeletal system disease	Distal myotilinopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98911	"" []	4134581	\N	\N	EFO	6	EFO	genetic disorder	Distal myotilinopathy
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98911	"" []	5183775	\N	\N	EFO	7	EFO	disease	Distal myotilinopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98911	"" []	5183776	\N	\N	EFO	7	EFO	disease	Distal myotilinopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98911	"" []	5999092	\N	\N	EFO	8	EFO	disposition	Distal myotilinopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98911	"" []	6552058	\N	\N	EFO	9	EFO	material property	Distal myotilinopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98911	"" []	6889650	\N	\N	EFO	10	EFO	experimental factor	Distal myotilinopathy
Orphanet:98912	\N	\N	"" []	Orphanet:98912	"" []	79112	\N	\N	EFO	0	EFO	Late-onset distal myopathy, Markesbery-Griggs type	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:206650	Orphanet:98912	\N	"" []	Orphanet:98912	"" []	224130	\N	\N	EFO	1	EFO	Autosomal dominant distal myopathy	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:209050	Orphanet:98912	\N	"" []	Orphanet:98912	"" []	224131	\N	\N	EFO	1	EFO	Qualitative or quantitative defects of protein ZASP	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:593	Orphanet:98912	\N	"" []	Orphanet:98912	"" []	224132	\N	\N	EFO	1	EFO	Myofibrillar myopathy	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:599	Orphanet:206650	\N	"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." []	Orphanet:98912	"" []	580887	\N	\N	EFO	2	EFO	Distal myopathy	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:209038	Orphanet:209050	\N	"" []	Orphanet:98912	"" []	580888	\N	\N	EFO	2	EFO	Qualitative or quantitative defects of myofibrillar proteins	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:206656	Orphanet:593	\N	"" []	Orphanet:98912	"" []	580889	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:206634	Orphanet:599	\N	"" []	Orphanet:98912	"" []	1164895	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:207049	Orphanet:209038	\N	"" []	Orphanet:98912	"" []	1164896	\N	\N	EFO	3	EFO	Qualitative or quantitative protein defects in neuromuscular diseases	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:98912	"" []	1164897	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:98912	"" []	2048805	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:183497	Orphanet:207049	\N	"" []	Orphanet:98912	"" []	2048806	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Late-onset distal myopathy, Markesbery-Griggs type
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98912	"" []	3198863	\N	\N	EFO	5	EFO	muscular disease	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98912	"" []	3198864	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Late-onset distal myopathy, Markesbery-Griggs type
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98912	"" []	4404162	\N	\N	EFO	6	EFO	skeletal system disease	Late-onset distal myopathy, Markesbery-Griggs type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98912	"" []	4404163	\N	\N	EFO	6	EFO	genetic disorder	Late-onset distal myopathy, Markesbery-Griggs type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98912	"" []	5419860	\N	\N	EFO	7	EFO	disease	Late-onset distal myopathy, Markesbery-Griggs type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98912	"" []	5419861	\N	\N	EFO	7	EFO	disease	Late-onset distal myopathy, Markesbery-Griggs type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98912	"" []	6153929	\N	\N	EFO	8	EFO	disposition	Late-onset distal myopathy, Markesbery-Griggs type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98912	"" []	6634673	\N	\N	EFO	9	EFO	material property	Late-onset distal myopathy, Markesbery-Griggs type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98912	"" []	6926426	\N	\N	EFO	10	EFO	experimental factor	Late-onset distal myopathy, Markesbery-Griggs type
Orphanet:98913	\N	\N	"" []	Orphanet:98913	"" []	79113	\N	\N	EFO	0	EFO	Postsynaptic congenital myasthenic syndromes	Postsynaptic congenital myasthenic syndromes
Orphanet:590	Orphanet:98913	\N	"" []	Orphanet:98913	"" []	224133	\N	\N	EFO	1	EFO	Congenital myasthenic syndromes	Postsynaptic congenital myasthenic syndromes
Orphanet:98495	Orphanet:590	\N	"" []	Orphanet:98913	"" []	580890	\N	\N	EFO	2	EFO	Genetic neuromuscular junction disease	Postsynaptic congenital myasthenic syndromes
Orphanet:98578	Orphanet:590	\N	"" []	Orphanet:98913	"" []	580891	\N	\N	EFO	2	EFO	Ptosis	Postsynaptic congenital myasthenic syndromes
Orphanet:98690	Orphanet:590	\N	"" []	Orphanet:98913	"" []	580892	\N	\N	EFO	2	EFO	Myasthenic syndrome with eye involvement	Postsynaptic congenital myasthenic syndromes
Orphanet:183497	Orphanet:98495	\N	"" []	Orphanet:98913	"" []	1164898	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Postsynaptic congenital myasthenic syndromes
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:98913	"" []	1164899	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Postsynaptic congenital myasthenic syndromes
Orphanet:98689	Orphanet:98690	\N	"" []	Orphanet:98913	"" []	1164900	\N	\N	EFO	3	EFO	Myopathy with eye involvement	Postsynaptic congenital myasthenic syndromes
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98913	"" []	2048807	\N	\N	EFO	4	EFO	muscular disease	Postsynaptic congenital myasthenic syndromes
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98913	"" []	2048808	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Postsynaptic congenital myasthenic syndromes
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:98913	"" []	2048809	\N	\N	EFO	4	EFO	Rare palpebral disease	Postsynaptic congenital myasthenic syndromes
Orphanet:183616	Orphanet:98689	\N	"" []	Orphanet:98913	"" []	2048810	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Postsynaptic congenital myasthenic syndromes
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98913	"" []	3198865	\N	\N	EFO	5	EFO	skeletal system disease	Postsynaptic congenital myasthenic syndromes
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98913	"" []	3198866	\N	\N	EFO	5	EFO	genetic disorder	Postsynaptic congenital myasthenic syndromes
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98913	"" []	3198867	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Postsynaptic congenital myasthenic syndromes
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98913	"" []	3198868	\N	\N	EFO	5	EFO	Rare genetic eye disease	Postsynaptic congenital myasthenic syndromes
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98913	"" []	4404164	\N	\N	EFO	6	EFO	disease	Postsynaptic congenital myasthenic syndromes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98913	"" []	5999094	\N	\N	EFO	8	EFO	disease	Postsynaptic congenital myasthenic syndromes
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98913	"" []	4404166	\N	\N	EFO	6	EFO	Rare genetic eye disease	Postsynaptic congenital myasthenic syndromes
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98913	"" []	5419863	\N	\N	EFO	7	EFO	genetic disorder	Postsynaptic congenital myasthenic syndromes
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98913	"" []	5419864	\N	\N	EFO	7	EFO	eye disease	Postsynaptic congenital myasthenic syndromes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98913	"" []	6471166	\N	\N	EFO	9	EFO	disposition	Postsynaptic congenital myasthenic syndromes
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98913	"" []	5999095	\N	\N	EFO	8	EFO	disease	Postsynaptic congenital myasthenic syndromes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98913	"" []	6848953	\N	\N	EFO	10	EFO	material property	Postsynaptic congenital myasthenic syndromes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98913	"" []	7068585	\N	\N	EFO	11	EFO	experimental factor	Postsynaptic congenital myasthenic syndromes
Orphanet:98914	\N	\N	"" []	Orphanet:98914	"" []	79114	\N	\N	EFO	0	EFO	Presynaptic congenital myasthenic syndromes	Presynaptic congenital myasthenic syndromes
Orphanet:590	Orphanet:98914	\N	"" []	Orphanet:98914	"" []	224134	\N	\N	EFO	1	EFO	Congenital myasthenic syndromes	Presynaptic congenital myasthenic syndromes
Orphanet:98495	Orphanet:590	\N	"" []	Orphanet:98914	"" []	580893	\N	\N	EFO	2	EFO	Genetic neuromuscular junction disease	Presynaptic congenital myasthenic syndromes
Orphanet:98578	Orphanet:590	\N	"" []	Orphanet:98914	"" []	580894	\N	\N	EFO	2	EFO	Ptosis	Presynaptic congenital myasthenic syndromes
Orphanet:98690	Orphanet:590	\N	"" []	Orphanet:98914	"" []	580895	\N	\N	EFO	2	EFO	Myasthenic syndrome with eye involvement	Presynaptic congenital myasthenic syndromes
Orphanet:183497	Orphanet:98495	\N	"" []	Orphanet:98914	"" []	1164901	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Presynaptic congenital myasthenic syndromes
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:98914	"" []	1164902	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Presynaptic congenital myasthenic syndromes
Orphanet:98689	Orphanet:98690	\N	"" []	Orphanet:98914	"" []	1164903	\N	\N	EFO	3	EFO	Myopathy with eye involvement	Presynaptic congenital myasthenic syndromes
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98914	"" []	2048811	\N	\N	EFO	4	EFO	muscular disease	Presynaptic congenital myasthenic syndromes
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98914	"" []	2048812	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Presynaptic congenital myasthenic syndromes
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:98914	"" []	2048813	\N	\N	EFO	4	EFO	Rare palpebral disease	Presynaptic congenital myasthenic syndromes
Orphanet:183616	Orphanet:98689	\N	"" []	Orphanet:98914	"" []	2048814	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Presynaptic congenital myasthenic syndromes
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98914	"" []	3198869	\N	\N	EFO	5	EFO	skeletal system disease	Presynaptic congenital myasthenic syndromes
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98914	"" []	3198870	\N	\N	EFO	5	EFO	genetic disorder	Presynaptic congenital myasthenic syndromes
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98914	"" []	3198871	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Presynaptic congenital myasthenic syndromes
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98914	"" []	3198872	\N	\N	EFO	5	EFO	Rare genetic eye disease	Presynaptic congenital myasthenic syndromes
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98914	"" []	4404169	\N	\N	EFO	6	EFO	disease	Presynaptic congenital myasthenic syndromes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98914	"" []	5999097	\N	\N	EFO	8	EFO	disease	Presynaptic congenital myasthenic syndromes
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98914	"" []	4404171	\N	\N	EFO	6	EFO	Rare genetic eye disease	Presynaptic congenital myasthenic syndromes
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98914	"" []	5419868	\N	\N	EFO	7	EFO	genetic disorder	Presynaptic congenital myasthenic syndromes
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98914	"" []	5419869	\N	\N	EFO	7	EFO	eye disease	Presynaptic congenital myasthenic syndromes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98914	"" []	6471167	\N	\N	EFO	9	EFO	disposition	Presynaptic congenital myasthenic syndromes
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98914	"" []	5999098	\N	\N	EFO	8	EFO	disease	Presynaptic congenital myasthenic syndromes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98914	"" []	6848954	\N	\N	EFO	10	EFO	material property	Presynaptic congenital myasthenic syndromes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98914	"" []	7068586	\N	\N	EFO	11	EFO	experimental factor	Presynaptic congenital myasthenic syndromes
Orphanet:98915	\N	\N	"" []	Orphanet:98915	"" []	79115	\N	\N	EFO	0	EFO	Synaptic congenital myasthenic syndromes	Synaptic congenital myasthenic syndromes
Orphanet:590	Orphanet:98915	\N	"" []	Orphanet:98915	"" []	224135	\N	\N	EFO	1	EFO	Congenital myasthenic syndromes	Synaptic congenital myasthenic syndromes
Orphanet:98495	Orphanet:590	\N	"" []	Orphanet:98915	"" []	580896	\N	\N	EFO	2	EFO	Genetic neuromuscular junction disease	Synaptic congenital myasthenic syndromes
Orphanet:98578	Orphanet:590	\N	"" []	Orphanet:98915	"" []	580897	\N	\N	EFO	2	EFO	Ptosis	Synaptic congenital myasthenic syndromes
Orphanet:98690	Orphanet:590	\N	"" []	Orphanet:98915	"" []	580898	\N	\N	EFO	2	EFO	Myasthenic syndrome with eye involvement	Synaptic congenital myasthenic syndromes
Orphanet:183497	Orphanet:98495	\N	"" []	Orphanet:98915	"" []	1164904	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Synaptic congenital myasthenic syndromes
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:98915	"" []	1164905	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Synaptic congenital myasthenic syndromes
Orphanet:98689	Orphanet:98690	\N	"" []	Orphanet:98915	"" []	1164906	\N	\N	EFO	3	EFO	Myopathy with eye involvement	Synaptic congenital myasthenic syndromes
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98915	"" []	2048815	\N	\N	EFO	4	EFO	muscular disease	Synaptic congenital myasthenic syndromes
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98915	"" []	2048816	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Synaptic congenital myasthenic syndromes
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:98915	"" []	2048817	\N	\N	EFO	4	EFO	Rare palpebral disease	Synaptic congenital myasthenic syndromes
Orphanet:183616	Orphanet:98689	\N	"" []	Orphanet:98915	"" []	2048818	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Synaptic congenital myasthenic syndromes
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98915	"" []	3198873	\N	\N	EFO	5	EFO	skeletal system disease	Synaptic congenital myasthenic syndromes
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98915	"" []	3198874	\N	\N	EFO	5	EFO	genetic disorder	Synaptic congenital myasthenic syndromes
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98915	"" []	3198875	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Synaptic congenital myasthenic syndromes
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:98915	"" []	3198876	\N	\N	EFO	5	EFO	Rare genetic eye disease	Synaptic congenital myasthenic syndromes
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98915	"" []	4404174	\N	\N	EFO	6	EFO	disease	Synaptic congenital myasthenic syndromes
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98915	"" []	5999100	\N	\N	EFO	8	EFO	disease	Synaptic congenital myasthenic syndromes
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98915	"" []	4404176	\N	\N	EFO	6	EFO	Rare genetic eye disease	Synaptic congenital myasthenic syndromes
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98915	"" []	5419873	\N	\N	EFO	7	EFO	genetic disorder	Synaptic congenital myasthenic syndromes
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98915	"" []	5419874	\N	\N	EFO	7	EFO	eye disease	Synaptic congenital myasthenic syndromes
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98915	"" []	6471168	\N	\N	EFO	9	EFO	disposition	Synaptic congenital myasthenic syndromes
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98915	"" []	5999101	\N	\N	EFO	8	EFO	disease	Synaptic congenital myasthenic syndromes
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98915	"" []	6848955	\N	\N	EFO	10	EFO	material property	Synaptic congenital myasthenic syndromes
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98915	"" []	7068587	\N	\N	EFO	11	EFO	experimental factor	Synaptic congenital myasthenic syndromes
Orphanet:98920	\N	\N	"" []	Orphanet:98920	"" []	79116	\N	\N	EFO	0	EFO	Spinal muscular atrophy with respiratory distress type 1	Spinal muscular atrophy with respiratory distress type 1
Orphanet:140468	Orphanet:98920	\N	"" []	Orphanet:98920	"" []	224136	\N	\N	EFO	1	EFO	Autosomal recessive distal hereditary motor neuropathy	Spinal muscular atrophy with respiratory distress type 1
Orphanet:206713	Orphanet:140468	\N	"" []	Orphanet:98920	"" []	580899	\N	\N	EFO	2	EFO	Distal spinal muscular atrophy	Spinal muscular atrophy with respiratory distress type 1
Orphanet:53739	Orphanet:140468	\N	"" []	Orphanet:98920	"" []	580900	\N	\N	EFO	2	EFO	Distal hereditary motor neuropathy	Spinal muscular atrophy with respiratory distress type 1
Orphanet:98505	Orphanet:206713	\N	"" []	Orphanet:98920	"" []	1164907	\N	\N	EFO	3	EFO	Genetic motor neuron disease	Spinal muscular atrophy with respiratory distress type 1
Orphanet:98497	Orphanet:53739	\N	"" []	Orphanet:98920	"" []	1164908	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Spinal muscular atrophy with respiratory distress type 1
Orphanet:183497	Orphanet:98505	\N	"" []	Orphanet:98920	"" []	2048819	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Spinal muscular atrophy with respiratory distress type 1
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:98920	"" []	2048820	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Spinal muscular atrophy with respiratory distress type 1
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:98920	"" []	3198877	\N	\N	EFO	5	EFO	muscular disease	Spinal muscular atrophy with respiratory distress type 1
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:98920	"" []	3198878	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spinal muscular atrophy with respiratory distress type 1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98920	"" []	4404180	\N	\N	EFO	6	EFO	genetic disorder	Spinal muscular atrophy with respiratory distress type 1
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:98920	"" []	4404179	\N	\N	EFO	6	EFO	skeletal system disease	Spinal muscular atrophy with respiratory distress type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98920	"" []	5183777	\N	\N	EFO	7	EFO	disease	Spinal muscular atrophy with respiratory distress type 1
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98920	"" []	5419877	\N	\N	EFO	7	EFO	disease	Spinal muscular atrophy with respiratory distress type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98920	"" []	5999102	\N	\N	EFO	8	EFO	disposition	Spinal muscular atrophy with respiratory distress type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98920	"" []	6552062	\N	\N	EFO	9	EFO	material property	Spinal muscular atrophy with respiratory distress type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98920	"" []	6889654	\N	\N	EFO	10	EFO	experimental factor	Spinal muscular atrophy with respiratory distress type 1
Orphanet:98934	\N	\N	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	79117	\N	\N	EFO	0	EFO	Huntington disease-like 2	Huntington disease-like 2
Orphanet:263440	Orphanet:98934	\N	"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	224137	\N	\N	EFO	1	EFO	Neuroacanthocytosis	Huntington disease-like 2
Orphanet:158266	Orphanet:263440	\N	"" []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	580901	\N	\N	EFO	2	EFO	Huntington disease-like syndrome	Huntington disease-like 2
Orphanet:307058	Orphanet:263440	\N	"" []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	580902	\N	\N	EFO	2	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Huntington disease-like 2
Orphanet:183500	Orphanet:158266	\N	"" []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	1164909	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease	Huntington disease-like 2
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	1164910	\N	\N	EFO	3	EFO	neurodegenerative disease	Huntington disease-like 2
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	1164911	\N	\N	EFO	3	EFO	Rare genetic movement disorder	Huntington disease-like 2
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	2048821	\N	\N	EFO	4	EFO	neurodegenerative disease	Huntington disease-like 2
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	2048822	\N	\N	EFO	4	EFO	brain disease	Huntington disease-like 2
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	2048823	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Huntington disease-like 2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	3198880	\N	\N	EFO	5	EFO	nervous system disease	Huntington disease-like 2
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	2048825	\N	\N	EFO	4	EFO	movement disorder	Huntington disease-like 2
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	2048826	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Huntington disease-like 2
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	3198881	\N	\N	EFO	5	EFO	nervous system disease	Huntington disease-like 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	3198882	\N	\N	EFO	5	EFO	genetic disorder	Huntington disease-like 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	4134582	\N	\N	EFO	6	EFO	disease	Huntington disease-like 2
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	3198884	\N	\N	EFO	5	EFO	nervous system disease	Huntington disease-like 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	4404182	\N	\N	EFO	6	EFO	disease	Huntington disease-like 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	5183778	\N	\N	EFO	7	EFO	disposition	Huntington disease-like 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	5999103	\N	\N	EFO	8	EFO	material property	Huntington disease-like 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98934	"Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." []	6552063	\N	\N	EFO	9	EFO	experimental factor	Huntington disease-like 2
Orphanet:98938	\N	\N	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	79118	\N	\N	EFO	0	EFO	Colobomatous microphthalmia	Colobomatous microphthalmia
Orphanet:2542	Orphanet:98938	\N	"" []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	224138	\N	\N	EFO	1	EFO	Isolated anophthalmia - microphthalmia	Colobomatous microphthalmia
Orphanet:108985	Orphanet:2542	\N	"" []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	580903	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Colobomatous microphthalmia
Orphanet:98555	Orphanet:2542	\N	"" []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	580904	\N	\N	EFO	2	EFO	Anophthalmia - microphthalmia	Colobomatous microphthalmia
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	1164912	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Colobomatous microphthalmia
Orphanet:98554	Orphanet:98555	\N	"" []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	1164913	\N	\N	EFO	3	EFO	Major induction processes eye anomaly	Colobomatous microphthalmia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	3198888	\N	\N	EFO	5	EFO	Rare genetic eye disease	Colobomatous microphthalmia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	3198889	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Colobomatous microphthalmia
Orphanet:183557	Orphanet:98554	\N	"" []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	2048829	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Colobomatous microphthalmia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	4134583	\N	\N	EFO	6	EFO	genetic disorder	Colobomatous microphthalmia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	4134584	\N	\N	EFO	6	EFO	eye disease	Colobomatous microphthalmia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	4134585	\N	\N	EFO	6	EFO	genetic disorder	Colobomatous microphthalmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	5183779	\N	\N	EFO	7	EFO	disease	Colobomatous microphthalmia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	5183780	\N	\N	EFO	7	EFO	disease	Colobomatous microphthalmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	5999104	\N	\N	EFO	8	EFO	disposition	Colobomatous microphthalmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	6552064	\N	\N	EFO	9	EFO	material property	Colobomatous microphthalmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98938	"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." []	6889655	\N	\N	EFO	10	EFO	experimental factor	Colobomatous microphthalmia
Orphanet:98941	\N	\N	"" []	Orphanet:98941	"" []	79119	\N	\N	EFO	0	EFO	Von Hippel anomaly	Von Hippel anomaly
Orphanet:108987	Orphanet:98941	\N	"" []	Orphanet:98941	"" []	224139	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	Von Hippel anomaly
Orphanet:708	Orphanet:98941	\N	"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." []	Orphanet:98941	"" []	224140	\N	\N	EFO	1	EFO	Peters anomaly	Von Hippel anomaly
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:98941	"" []	580905	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	Von Hippel anomaly
Orphanet:98558	Orphanet:708	\N	"" []	Orphanet:98941	"" []	580906	\N	\N	EFO	2	EFO	Rare eye disease due to a differentiation anomaly	Von Hippel anomaly
Orphanet:98636	Orphanet:708	\N	"" []	Orphanet:98941	"" []	580907	\N	\N	EFO	2	EFO	Corneoiridogoniodysgenesis	Von Hippel anomaly
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98941	"" []	6153937	\N	\N	EFO	8	EFO	Rare genetic eye disease	Von Hippel anomaly
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98941	"" []	6153938	\N	\N	EFO	8	EFO	Rare genetic developmental defect during embryogenesis	Von Hippel anomaly
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:98941	"" []	1164916	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Von Hippel anomaly
Orphanet:98632	Orphanet:98636	\N	"" []	Orphanet:98941	"" []	1164917	\N	\N	EFO	3	EFO	Glaucoma associated with neural crest cell migration anomaly	Von Hippel anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98941	"" []	6370847	\N	\N	EFO	9	EFO	genetic disorder	Von Hippel anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98941	"" []	6370848	\N	\N	EFO	9	EFO	eye disease	Von Hippel anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98941	"" []	6370849	\N	\N	EFO	9	EFO	genetic disorder	Von Hippel anomaly
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:98941	"" []	2048835	\N	\N	EFO	4	EFO	Secondary dysgenetic glaucoma	Von Hippel anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98941	"" []	6762412	\N	\N	EFO	10	EFO	disease	Von Hippel anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98941	"" []	6762413	\N	\N	EFO	10	EFO	disease	Von Hippel anomaly
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98941	"" []	3198892	\N	\N	EFO	5	EFO	Hereditary glaucoma	Von Hippel anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98941	"" []	7015725	\N	\N	EFO	11	EFO	disposition	Von Hippel anomaly
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98941	"" []	4404187	\N	\N	EFO	6	EFO	Non-syndromic developmental defect of the eye	Von Hippel anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98941	"" []	7173670	\N	\N	EFO	12	EFO	material property	Von Hippel anomaly
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98941	"" []	5419882	\N	\N	EFO	7	EFO	Genetic developmental defect of the eye	Von Hippel anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98941	"" []	7275688	\N	\N	EFO	13	EFO	experimental factor	Von Hippel anomaly
Orphanet:98942	\N	\N	"" []	Orphanet:98942	"" []	79120	\N	\N	EFO	0	EFO	Coloboma of choroid and retina	Coloboma of choroid and retina
Orphanet:194	Orphanet:98942	\N	"" []	Orphanet:98942	"" []	224141	\N	\N	EFO	1	EFO	Ocular coloboma	Coloboma of choroid and retina
Orphanet:108985	Orphanet:194	\N	"" []	Orphanet:98942	"" []	580908	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Coloboma of choroid and retina
Orphanet:98558	Orphanet:194	\N	"" []	Orphanet:98942	"" []	580909	\N	\N	EFO	2	EFO	Rare eye disease due to a differentiation anomaly	Coloboma of choroid and retina
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98942	"" []	1164918	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coloboma of choroid and retina
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:98942	"" []	1164919	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coloboma of choroid and retina
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98942	"" []	2048836	\N	\N	EFO	4	EFO	Rare genetic eye disease	Coloboma of choroid and retina
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98942	"" []	2048837	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Coloboma of choroid and retina
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98942	"" []	3198893	\N	\N	EFO	5	EFO	genetic disorder	Coloboma of choroid and retina
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98942	"" []	3198894	\N	\N	EFO	5	EFO	eye disease	Coloboma of choroid and retina
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98942	"" []	3198895	\N	\N	EFO	5	EFO	genetic disorder	Coloboma of choroid and retina
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98942	"" []	4404188	\N	\N	EFO	6	EFO	disease	Coloboma of choroid and retina
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98942	"" []	4404189	\N	\N	EFO	6	EFO	disease	Coloboma of choroid and retina
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98942	"" []	5419883	\N	\N	EFO	7	EFO	disposition	Coloboma of choroid and retina
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98942	"" []	6153939	\N	\N	EFO	8	EFO	material property	Coloboma of choroid and retina
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98942	"" []	6634679	\N	\N	EFO	9	EFO	experimental factor	Coloboma of choroid and retina
Orphanet:98943	\N	\N	"" []	Orphanet:98943	"" []	79121	\N	\N	EFO	0	EFO	Coloboma of eye lens	Coloboma of eye lens
Orphanet:194	Orphanet:98943	\N	"" []	Orphanet:98943	"" []	224142	\N	\N	EFO	1	EFO	Ocular coloboma	Coloboma of eye lens
Orphanet:108985	Orphanet:194	\N	"" []	Orphanet:98943	"" []	580910	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Coloboma of eye lens
Orphanet:98558	Orphanet:194	\N	"" []	Orphanet:98943	"" []	580911	\N	\N	EFO	2	EFO	Rare eye disease due to a differentiation anomaly	Coloboma of eye lens
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98943	"" []	1164920	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coloboma of eye lens
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:98943	"" []	1164921	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coloboma of eye lens
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98943	"" []	2048838	\N	\N	EFO	4	EFO	Rare genetic eye disease	Coloboma of eye lens
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98943	"" []	2048839	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Coloboma of eye lens
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98943	"" []	3198896	\N	\N	EFO	5	EFO	genetic disorder	Coloboma of eye lens
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98943	"" []	3198897	\N	\N	EFO	5	EFO	eye disease	Coloboma of eye lens
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98943	"" []	3198898	\N	\N	EFO	5	EFO	genetic disorder	Coloboma of eye lens
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98943	"" []	4404190	\N	\N	EFO	6	EFO	disease	Coloboma of eye lens
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98943	"" []	4404191	\N	\N	EFO	6	EFO	disease	Coloboma of eye lens
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98943	"" []	5419884	\N	\N	EFO	7	EFO	disposition	Coloboma of eye lens
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98943	"" []	6153940	\N	\N	EFO	8	EFO	material property	Coloboma of eye lens
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98943	"" []	6634680	\N	\N	EFO	9	EFO	experimental factor	Coloboma of eye lens
Orphanet:98944	\N	\N	"" []	Orphanet:98944	"" []	79122	\N	\N	EFO	0	EFO	Coloboma of iris	Coloboma of iris
Orphanet:194	Orphanet:98944	\N	"" []	Orphanet:98944	"" []	224143	\N	\N	EFO	1	EFO	Ocular coloboma	Coloboma of iris
Orphanet:108985	Orphanet:194	\N	"" []	Orphanet:98944	"" []	580912	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Coloboma of iris
Orphanet:98558	Orphanet:194	\N	"" []	Orphanet:98944	"" []	580913	\N	\N	EFO	2	EFO	Rare eye disease due to a differentiation anomaly	Coloboma of iris
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98944	"" []	1164922	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coloboma of iris
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:98944	"" []	1164923	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coloboma of iris
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98944	"" []	2048840	\N	\N	EFO	4	EFO	Rare genetic eye disease	Coloboma of iris
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98944	"" []	2048841	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Coloboma of iris
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98944	"" []	3198899	\N	\N	EFO	5	EFO	genetic disorder	Coloboma of iris
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98944	"" []	3198900	\N	\N	EFO	5	EFO	eye disease	Coloboma of iris
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98944	"" []	3198901	\N	\N	EFO	5	EFO	genetic disorder	Coloboma of iris
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98944	"" []	4404192	\N	\N	EFO	6	EFO	disease	Coloboma of iris
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98944	"" []	4404193	\N	\N	EFO	6	EFO	disease	Coloboma of iris
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98944	"" []	5419885	\N	\N	EFO	7	EFO	disposition	Coloboma of iris
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98944	"" []	6153941	\N	\N	EFO	8	EFO	material property	Coloboma of iris
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98944	"" []	6634681	\N	\N	EFO	9	EFO	experimental factor	Coloboma of iris
Orphanet:98945	\N	\N	"" []	Orphanet:98945	"" []	79123	\N	\N	EFO	0	EFO	Coloboma of macula	Coloboma of macula
Orphanet:194	Orphanet:98945	\N	"" []	Orphanet:98945	"" []	224144	\N	\N	EFO	1	EFO	Ocular coloboma	Coloboma of macula
Orphanet:98665	Orphanet:98945	\N	"" []	Orphanet:98945	"" []	224145	\N	\N	EFO	1	EFO	Colobomatous and areolar dystrophy	Coloboma of macula
Orphanet:108985	Orphanet:194	\N	"" []	Orphanet:98945	"" []	580914	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Coloboma of macula
Orphanet:98558	Orphanet:194	\N	"" []	Orphanet:98945	"" []	580915	\N	\N	EFO	2	EFO	Rare eye disease due to a differentiation anomaly	Coloboma of macula
Orphanet:98664	Orphanet:98665	\N	"" []	Orphanet:98945	"" []	580916	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Coloboma of macula
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98945	"" []	1164924	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coloboma of macula
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:98945	"" []	1164925	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coloboma of macula
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:98945	"" []	1164926	\N	\N	EFO	3	EFO	Retinal dystrophy	Coloboma of macula
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98945	"" []	2048842	\N	\N	EFO	4	EFO	Rare genetic eye disease	Coloboma of macula
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98945	"" []	2048843	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Coloboma of macula
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:98945	"" []	2048844	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Coloboma of macula
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98945	"" []	4404196	\N	\N	EFO	6	EFO	genetic disorder	Coloboma of macula
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98945	"" []	4404197	\N	\N	EFO	6	EFO	eye disease	Coloboma of macula
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98945	"" []	3198904	\N	\N	EFO	5	EFO	genetic disorder	Coloboma of macula
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:98945	"" []	3198905	\N	\N	EFO	5	EFO	Rare genetic eye disease	Coloboma of macula
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98945	"" []	5183782	\N	\N	EFO	7	EFO	disease	Coloboma of macula
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98945	"" []	5183783	\N	\N	EFO	7	EFO	disease	Coloboma of macula
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98945	"" []	5999106	\N	\N	EFO	8	EFO	disposition	Coloboma of macula
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98945	"" []	6552066	\N	\N	EFO	9	EFO	material property	Coloboma of macula
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98945	"" []	6889656	\N	\N	EFO	10	EFO	experimental factor	Coloboma of macula
Orphanet:98946	\N	\N	"" []	Orphanet:98946	"" []	79124	\N	\N	EFO	0	EFO	Coloboma of eyelid	Coloboma of eyelid
Orphanet:194	Orphanet:98946	\N	"" []	Orphanet:98946	"" []	224146	\N	\N	EFO	1	EFO	Ocular coloboma	Coloboma of eyelid
Orphanet:98564	Orphanet:98946	\N	"" []	Orphanet:98946	"" []	224147	\N	\N	EFO	1	EFO	Eyelid border anomaly	Coloboma of eyelid
Orphanet:108985	Orphanet:194	\N	"" []	Orphanet:98946	"" []	580917	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Coloboma of eyelid
Orphanet:98558	Orphanet:194	\N	"" []	Orphanet:98946	"" []	580918	\N	\N	EFO	2	EFO	Rare eye disease due to a differentiation anomaly	Coloboma of eyelid
Orphanet:98561	Orphanet:98564	\N	"" []	Orphanet:98946	"" []	580919	\N	\N	EFO	2	EFO	Eyelid malformation	Coloboma of eyelid
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98946	"" []	1164927	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coloboma of eyelid
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:98946	"" []	1164928	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coloboma of eyelid
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:98946	"" []	1164929	\N	\N	EFO	3	EFO	Rare palpebral disease	Coloboma of eyelid
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98946	"" []	2048845	\N	\N	EFO	4	EFO	Rare genetic eye disease	Coloboma of eyelid
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98946	"" []	2048846	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Coloboma of eyelid
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98946	"" []	2048847	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Coloboma of eyelid
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98946	"" []	4404200	\N	\N	EFO	6	EFO	genetic disorder	Coloboma of eyelid
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98946	"" []	4404201	\N	\N	EFO	6	EFO	eye disease	Coloboma of eyelid
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98946	"" []	3198908	\N	\N	EFO	5	EFO	genetic disorder	Coloboma of eyelid
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98946	"" []	3198909	\N	\N	EFO	5	EFO	Rare genetic eye disease	Coloboma of eyelid
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98946	"" []	5183784	\N	\N	EFO	7	EFO	disease	Coloboma of eyelid
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98946	"" []	5183785	\N	\N	EFO	7	EFO	disease	Coloboma of eyelid
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98946	"" []	5999107	\N	\N	EFO	8	EFO	disposition	Coloboma of eyelid
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98946	"" []	6552067	\N	\N	EFO	9	EFO	material property	Coloboma of eyelid
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98946	"" []	6889657	\N	\N	EFO	10	EFO	experimental factor	Coloboma of eyelid
Orphanet:98947	\N	\N	"" []	Orphanet:98947	"" []	79125	\N	\N	EFO	0	EFO	Coloboma of optic papilla	Coloboma of optic papilla
Orphanet:194	Orphanet:98947	\N	"" []	Orphanet:98947	"" []	224148	\N	\N	EFO	1	EFO	Ocular coloboma	Coloboma of optic papilla
Orphanet:108985	Orphanet:194	\N	"" []	Orphanet:98947	"" []	580920	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Coloboma of optic papilla
Orphanet:98558	Orphanet:194	\N	"" []	Orphanet:98947	"" []	580921	\N	\N	EFO	2	EFO	Rare eye disease due to a differentiation anomaly	Coloboma of optic papilla
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98947	"" []	1164930	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coloboma of optic papilla
Orphanet:183557	Orphanet:98558	\N	"" []	Orphanet:98947	"" []	1164931	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coloboma of optic papilla
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98947	"" []	2048848	\N	\N	EFO	4	EFO	Rare genetic eye disease	Coloboma of optic papilla
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98947	"" []	2048849	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Coloboma of optic papilla
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98947	"" []	3198910	\N	\N	EFO	5	EFO	genetic disorder	Coloboma of optic papilla
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98947	"" []	3198911	\N	\N	EFO	5	EFO	eye disease	Coloboma of optic papilla
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98947	"" []	3198912	\N	\N	EFO	5	EFO	genetic disorder	Coloboma of optic papilla
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98947	"" []	4404202	\N	\N	EFO	6	EFO	disease	Coloboma of optic papilla
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98947	"" []	4404203	\N	\N	EFO	6	EFO	disease	Coloboma of optic papilla
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98947	"" []	5419888	\N	\N	EFO	7	EFO	disposition	Coloboma of optic papilla
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98947	"" []	6153944	\N	\N	EFO	8	EFO	material property	Coloboma of optic papilla
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98947	"" []	6634684	\N	\N	EFO	9	EFO	experimental factor	Coloboma of optic papilla
Orphanet:98948	\N	\N	"" []	Orphanet:98948	"" []	79126	\N	\N	EFO	0	EFO	Congenital symblepharon	Congenital symblepharon
Orphanet:91396	Orphanet:98948	\N	"" []	Orphanet:98948	"" []	224149	\N	\N	EFO	1	EFO	Isolated cryptophthalmia	Congenital symblepharon
Orphanet:108985	Orphanet:91396	\N	"" []	Orphanet:98948	"" []	580922	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Congenital symblepharon
Orphanet:98562	Orphanet:91396	\N	"" []	Orphanet:98948	"" []	580923	\N	\N	EFO	2	EFO	Cryptophthalmia	Congenital symblepharon
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98948	"" []	1164932	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Congenital symblepharon
Orphanet:98561	Orphanet:98562	\N	"" []	Orphanet:98948	"" []	1164933	\N	\N	EFO	3	EFO	Eyelid malformation	Congenital symblepharon
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98948	"" []	2048850	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital symblepharon
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98948	"" []	2048851	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital symblepharon
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:98948	"" []	2048852	\N	\N	EFO	4	EFO	Rare palpebral disease	Congenital symblepharon
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98948	"" []	5419890	\N	\N	EFO	7	EFO	genetic disorder	Congenital symblepharon
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98948	"" []	5419891	\N	\N	EFO	7	EFO	eye disease	Congenital symblepharon
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98948	"" []	3198915	\N	\N	EFO	5	EFO	genetic disorder	Congenital symblepharon
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98948	"" []	3198916	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital symblepharon
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98948	"" []	5877939	\N	\N	EFO	8	EFO	disease	Congenital symblepharon
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98948	"" []	5877940	\N	\N	EFO	8	EFO	disease	Congenital symblepharon
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98948	"" []	4404206	\N	\N	EFO	6	EFO	Rare genetic eye disease	Congenital symblepharon
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98948	"" []	6471169	\N	\N	EFO	9	EFO	disposition	Congenital symblepharon
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98948	"" []	6848956	\N	\N	EFO	10	EFO	material property	Congenital symblepharon
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98948	"" []	7068588	\N	\N	EFO	11	EFO	experimental factor	Congenital symblepharon
Orphanet:98949	\N	\N	"" []	Orphanet:98949	"" []	79127	\N	\N	EFO	0	EFO	Complete cryptophthalmia	Complete cryptophthalmia
Orphanet:91396	Orphanet:98949	\N	"" []	Orphanet:98949	"" []	224150	\N	\N	EFO	1	EFO	Isolated cryptophthalmia	Complete cryptophthalmia
Orphanet:108985	Orphanet:91396	\N	"" []	Orphanet:98949	"" []	580924	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Complete cryptophthalmia
Orphanet:98562	Orphanet:91396	\N	"" []	Orphanet:98949	"" []	580925	\N	\N	EFO	2	EFO	Cryptophthalmia	Complete cryptophthalmia
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98949	"" []	1164934	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Complete cryptophthalmia
Orphanet:98561	Orphanet:98562	\N	"" []	Orphanet:98949	"" []	1164935	\N	\N	EFO	3	EFO	Eyelid malformation	Complete cryptophthalmia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98949	"" []	2048853	\N	\N	EFO	4	EFO	Rare genetic eye disease	Complete cryptophthalmia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98949	"" []	2048854	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Complete cryptophthalmia
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:98949	"" []	2048855	\N	\N	EFO	4	EFO	Rare palpebral disease	Complete cryptophthalmia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98949	"" []	5419893	\N	\N	EFO	7	EFO	genetic disorder	Complete cryptophthalmia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98949	"" []	5419894	\N	\N	EFO	7	EFO	eye disease	Complete cryptophthalmia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98949	"" []	3198919	\N	\N	EFO	5	EFO	genetic disorder	Complete cryptophthalmia
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98949	"" []	3198920	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Complete cryptophthalmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98949	"" []	5877941	\N	\N	EFO	8	EFO	disease	Complete cryptophthalmia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98949	"" []	5877942	\N	\N	EFO	8	EFO	disease	Complete cryptophthalmia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98949	"" []	4404209	\N	\N	EFO	6	EFO	Rare genetic eye disease	Complete cryptophthalmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98949	"" []	6471170	\N	\N	EFO	9	EFO	disposition	Complete cryptophthalmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98949	"" []	6848957	\N	\N	EFO	10	EFO	material property	Complete cryptophthalmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98949	"" []	7068589	\N	\N	EFO	11	EFO	experimental factor	Complete cryptophthalmia
Orphanet:98950	\N	\N	"" []	Orphanet:98950	"" []	79128	\N	\N	EFO	0	EFO	Partial cryptophthalmia	Partial cryptophthalmia
Orphanet:91396	Orphanet:98950	\N	"" []	Orphanet:98950	"" []	224151	\N	\N	EFO	1	EFO	Isolated cryptophthalmia	Partial cryptophthalmia
Orphanet:108985	Orphanet:91396	\N	"" []	Orphanet:98950	"" []	580926	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Partial cryptophthalmia
Orphanet:98562	Orphanet:91396	\N	"" []	Orphanet:98950	"" []	580927	\N	\N	EFO	2	EFO	Cryptophthalmia	Partial cryptophthalmia
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98950	"" []	1164936	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Partial cryptophthalmia
Orphanet:98561	Orphanet:98562	\N	"" []	Orphanet:98950	"" []	1164937	\N	\N	EFO	3	EFO	Eyelid malformation	Partial cryptophthalmia
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98950	"" []	2048856	\N	\N	EFO	4	EFO	Rare genetic eye disease	Partial cryptophthalmia
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98950	"" []	2048857	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Partial cryptophthalmia
Orphanet:98560	Orphanet:98561	\N	"" []	Orphanet:98950	"" []	2048858	\N	\N	EFO	4	EFO	Rare palpebral disease	Partial cryptophthalmia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98950	"" []	5419896	\N	\N	EFO	7	EFO	genetic disorder	Partial cryptophthalmia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98950	"" []	5419897	\N	\N	EFO	7	EFO	eye disease	Partial cryptophthalmia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98950	"" []	3198923	\N	\N	EFO	5	EFO	genetic disorder	Partial cryptophthalmia
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98950	"" []	3198924	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Partial cryptophthalmia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98950	"" []	5877943	\N	\N	EFO	8	EFO	disease	Partial cryptophthalmia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98950	"" []	5877944	\N	\N	EFO	8	EFO	disease	Partial cryptophthalmia
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98950	"" []	4404212	\N	\N	EFO	6	EFO	Rare genetic eye disease	Partial cryptophthalmia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98950	"" []	6471171	\N	\N	EFO	9	EFO	disposition	Partial cryptophthalmia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98950	"" []	6848958	\N	\N	EFO	10	EFO	material property	Partial cryptophthalmia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98950	"" []	7068590	\N	\N	EFO	11	EFO	experimental factor	Partial cryptophthalmia
Orphanet:98951	\N	\N	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	79129	\N	\N	EFO	0	EFO	Inverse Marcus-Gunn phenomenon	Inverse Marcus-Gunn phenomenon
Orphanet:91412	Orphanet:98951	\N	"" []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	224152	\N	\N	EFO	1	EFO	Marcus-Gunn syndrome	Inverse Marcus-Gunn phenomenon
Orphanet:98578	Orphanet:91412	\N	"" []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	580928	\N	\N	EFO	2	EFO	Ptosis	Inverse Marcus-Gunn phenomenon
Orphanet:98577	Orphanet:98578	\N	"" []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	1164938	\N	\N	EFO	3	EFO	Kinetic eyelid anomaly	Inverse Marcus-Gunn phenomenon
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	2048859	\N	\N	EFO	4	EFO	Rare palpebral disease	Inverse Marcus-Gunn phenomenon
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	3198925	\N	\N	EFO	5	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Inverse Marcus-Gunn phenomenon
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	4404213	\N	\N	EFO	6	EFO	Rare genetic eye disease	Inverse Marcus-Gunn phenomenon
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	5419898	\N	\N	EFO	7	EFO	genetic disorder	Inverse Marcus-Gunn phenomenon
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	5419899	\N	\N	EFO	7	EFO	eye disease	Inverse Marcus-Gunn phenomenon
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	6153948	\N	\N	EFO	8	EFO	disease	Inverse Marcus-Gunn phenomenon
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	6153949	\N	\N	EFO	8	EFO	disease	Inverse Marcus-Gunn phenomenon
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	6634688	\N	\N	EFO	9	EFO	disposition	Inverse Marcus-Gunn phenomenon
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	6926427	\N	\N	EFO	10	EFO	material property	Inverse Marcus-Gunn phenomenon
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98951	"Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." []	7099378	\N	\N	EFO	11	EFO	experimental factor	Inverse Marcus-Gunn phenomenon
Orphanet:98954	\N	\N	"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." []	Orphanet:98954	"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." []	79130	\N	\N	EFO	0	EFO	Meesmann corneal dystrophy	Meesmann corneal dystrophy
Orphanet:98625	Orphanet:98954	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98954	"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." []	224153	\N	\N	EFO	1	EFO	Superficial corneal dystrophy	Meesmann corneal dystrophy
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98954	"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." []	580929	\N	\N	EFO	2	EFO	Corneal dystrophy	Meesmann corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98954	"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." []	1164939	\N	\N	EFO	3	EFO	Rare genetic eye disease	Meesmann corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98954	"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." []	2048860	\N	\N	EFO	4	EFO	genetic disorder	Meesmann corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98954	"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." []	2048861	\N	\N	EFO	4	EFO	eye disease	Meesmann corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98954	"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." []	3198926	\N	\N	EFO	5	EFO	disease	Meesmann corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98954	"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." []	3198927	\N	\N	EFO	5	EFO	disease	Meesmann corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98954	"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." []	4404214	\N	\N	EFO	6	EFO	disposition	Meesmann corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98954	"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." []	5419900	\N	\N	EFO	7	EFO	material property	Meesmann corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98954	"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." []	6153950	\N	\N	EFO	8	EFO	experimental factor	Meesmann corneal dystrophy
Orphanet:98955	\N	\N	"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." []	Orphanet:98955	"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." []	79131	\N	\N	EFO	0	EFO	Lisch epithelial corneal dystrophy	Lisch epithelial corneal dystrophy
Orphanet:98625	Orphanet:98955	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98955	"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." []	224154	\N	\N	EFO	1	EFO	Superficial corneal dystrophy	Lisch epithelial corneal dystrophy
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98955	"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." []	580930	\N	\N	EFO	2	EFO	Corneal dystrophy	Lisch epithelial corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98955	"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." []	1164940	\N	\N	EFO	3	EFO	Rare genetic eye disease	Lisch epithelial corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98955	"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." []	2048862	\N	\N	EFO	4	EFO	genetic disorder	Lisch epithelial corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98955	"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." []	2048863	\N	\N	EFO	4	EFO	eye disease	Lisch epithelial corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98955	"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." []	3198928	\N	\N	EFO	5	EFO	disease	Lisch epithelial corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98955	"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." []	3198929	\N	\N	EFO	5	EFO	disease	Lisch epithelial corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98955	"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." []	4404215	\N	\N	EFO	6	EFO	disposition	Lisch epithelial corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98955	"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." []	5419901	\N	\N	EFO	7	EFO	material property	Lisch epithelial corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98955	"Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." []	6153951	\N	\N	EFO	8	EFO	experimental factor	Lisch epithelial corneal dystrophy
Orphanet:98956	\N	\N	"" []	Orphanet:98956	"" []	79132	\N	\N	EFO	0	EFO	Microcystic corneal dystrophy	Microcystic corneal dystrophy
Orphanet:98625	Orphanet:98956	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98956	"" []	224155	\N	\N	EFO	1	EFO	Superficial corneal dystrophy	Microcystic corneal dystrophy
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98956	"" []	580931	\N	\N	EFO	2	EFO	Corneal dystrophy	Microcystic corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98956	"" []	1164941	\N	\N	EFO	3	EFO	Rare genetic eye disease	Microcystic corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98956	"" []	2048864	\N	\N	EFO	4	EFO	genetic disorder	Microcystic corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98956	"" []	2048865	\N	\N	EFO	4	EFO	eye disease	Microcystic corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98956	"" []	3198930	\N	\N	EFO	5	EFO	disease	Microcystic corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98956	"" []	3198931	\N	\N	EFO	5	EFO	disease	Microcystic corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98956	"" []	4404216	\N	\N	EFO	6	EFO	disposition	Microcystic corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98956	"" []	5419902	\N	\N	EFO	7	EFO	material property	Microcystic corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98956	"" []	6153952	\N	\N	EFO	8	EFO	experimental factor	Microcystic corneal dystrophy
Orphanet:98957	\N	\N	"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." []	Orphanet:98957	"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." []	79133	\N	\N	EFO	0	EFO	Gelatinous drop-like corneal dystrophy	Gelatinous drop-like corneal dystrophy
Orphanet:98625	Orphanet:98957	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98957	"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." []	224156	\N	\N	EFO	1	EFO	Superficial corneal dystrophy	Gelatinous drop-like corneal dystrophy
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98957	"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." []	580932	\N	\N	EFO	2	EFO	Corneal dystrophy	Gelatinous drop-like corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98957	"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." []	1164942	\N	\N	EFO	3	EFO	Rare genetic eye disease	Gelatinous drop-like corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98957	"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." []	2048866	\N	\N	EFO	4	EFO	genetic disorder	Gelatinous drop-like corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98957	"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." []	2048867	\N	\N	EFO	4	EFO	eye disease	Gelatinous drop-like corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98957	"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." []	3198932	\N	\N	EFO	5	EFO	disease	Gelatinous drop-like corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98957	"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." []	3198933	\N	\N	EFO	5	EFO	disease	Gelatinous drop-like corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98957	"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." []	4404217	\N	\N	EFO	6	EFO	disposition	Gelatinous drop-like corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98957	"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." []	5419903	\N	\N	EFO	7	EFO	material property	Gelatinous drop-like corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98957	"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." []	6153953	\N	\N	EFO	8	EFO	experimental factor	Gelatinous drop-like corneal dystrophy
Orphanet:98958	\N	\N	"" []	Orphanet:98958	"" []	79134	\N	\N	EFO	0	EFO	Honey-droplet corneal dystrophy	Honey-droplet corneal dystrophy
Orphanet:98625	Orphanet:98958	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98958	"" []	224157	\N	\N	EFO	1	EFO	Superficial corneal dystrophy	Honey-droplet corneal dystrophy
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98958	"" []	580933	\N	\N	EFO	2	EFO	Corneal dystrophy	Honey-droplet corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98958	"" []	1164943	\N	\N	EFO	3	EFO	Rare genetic eye disease	Honey-droplet corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98958	"" []	2048868	\N	\N	EFO	4	EFO	genetic disorder	Honey-droplet corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98958	"" []	2048869	\N	\N	EFO	4	EFO	eye disease	Honey-droplet corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98958	"" []	3198934	\N	\N	EFO	5	EFO	disease	Honey-droplet corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98958	"" []	3198935	\N	\N	EFO	5	EFO	disease	Honey-droplet corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98958	"" []	4404218	\N	\N	EFO	6	EFO	disposition	Honey-droplet corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98958	"" []	5419904	\N	\N	EFO	7	EFO	material property	Honey-droplet corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98958	"" []	6153954	\N	\N	EFO	8	EFO	experimental factor	Honey-droplet corneal dystrophy
Orphanet:98959	\N	\N	"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." []	Orphanet:98959	"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." []	79135	\N	\N	EFO	0	EFO	Subepithelial mucinous corneal dystrophy	Subepithelial mucinous corneal dystrophy
Orphanet:98625	Orphanet:98959	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98959	"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." []	224158	\N	\N	EFO	1	EFO	Superficial corneal dystrophy	Subepithelial mucinous corneal dystrophy
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98959	"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." []	580934	\N	\N	EFO	2	EFO	Corneal dystrophy	Subepithelial mucinous corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98959	"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." []	1164944	\N	\N	EFO	3	EFO	Rare genetic eye disease	Subepithelial mucinous corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98959	"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." []	2048870	\N	\N	EFO	4	EFO	genetic disorder	Subepithelial mucinous corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98959	"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." []	2048871	\N	\N	EFO	4	EFO	eye disease	Subepithelial mucinous corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98959	"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." []	3198936	\N	\N	EFO	5	EFO	disease	Subepithelial mucinous corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98959	"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." []	3198937	\N	\N	EFO	5	EFO	disease	Subepithelial mucinous corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98959	"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." []	4404219	\N	\N	EFO	6	EFO	disposition	Subepithelial mucinous corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98959	"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." []	5419905	\N	\N	EFO	7	EFO	material property	Subepithelial mucinous corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98959	"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." []	6153955	\N	\N	EFO	8	EFO	experimental factor	Subepithelial mucinous corneal dystrophy
Orphanet:98960	\N	\N	"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." []	Orphanet:98960	"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." []	79136	\N	\N	EFO	0	EFO	Thiel-Behnke corneal dystrophy	Thiel-Behnke corneal dystrophy
Orphanet:98625	Orphanet:98960	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98960	"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." []	224159	\N	\N	EFO	1	EFO	Superficial corneal dystrophy	Thiel-Behnke corneal dystrophy
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98960	"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." []	580935	\N	\N	EFO	2	EFO	Corneal dystrophy	Thiel-Behnke corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98960	"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." []	1164945	\N	\N	EFO	3	EFO	Rare genetic eye disease	Thiel-Behnke corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98960	"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." []	2048872	\N	\N	EFO	4	EFO	genetic disorder	Thiel-Behnke corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98960	"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." []	2048873	\N	\N	EFO	4	EFO	eye disease	Thiel-Behnke corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98960	"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." []	3198938	\N	\N	EFO	5	EFO	disease	Thiel-Behnke corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98960	"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." []	3198939	\N	\N	EFO	5	EFO	disease	Thiel-Behnke corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98960	"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." []	4404220	\N	\N	EFO	6	EFO	disposition	Thiel-Behnke corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98960	"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." []	5419906	\N	\N	EFO	7	EFO	material property	Thiel-Behnke corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98960	"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." []	6153956	\N	\N	EFO	8	EFO	experimental factor	Thiel-Behnke corneal dystrophy
Orphanet:98961	\N	\N	"Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." []	Orphanet:98961	"Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." []	79137	\N	\N	EFO	0	EFO	Reis-Bcklers corneal dystrophy	Reis-Bcklers corneal dystrophy
Orphanet:98625	Orphanet:98961	\N	"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98961	"Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." []	224160	\N	\N	EFO	1	EFO	Superficial corneal dystrophy	Reis-Bcklers corneal dystrophy
Orphanet:34533	Orphanet:98625	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98961	"Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." []	580936	\N	\N	EFO	2	EFO	Corneal dystrophy	Reis-Bcklers corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98961	"Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." []	1164946	\N	\N	EFO	3	EFO	Rare genetic eye disease	Reis-Bcklers corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98961	"Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." []	2048874	\N	\N	EFO	4	EFO	genetic disorder	Reis-Bcklers corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98961	"Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." []	2048875	\N	\N	EFO	4	EFO	eye disease	Reis-Bcklers corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98961	"Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." []	3198940	\N	\N	EFO	5	EFO	disease	Reis-Bcklers corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98961	"Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." []	3198941	\N	\N	EFO	5	EFO	disease	Reis-Bcklers corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98961	"Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." []	4404221	\N	\N	EFO	6	EFO	disposition	Reis-Bcklers corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98961	"Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." []	5419907	\N	\N	EFO	7	EFO	material property	Reis-Bcklers corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98961	"Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." []	6153957	\N	\N	EFO	8	EFO	experimental factor	Reis-Bcklers corneal dystrophy
Orphanet:98962	\N	\N	"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." []	Orphanet:98962	"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." []	79138	\N	\N	EFO	0	EFO	Granular corneal dystrophy type I	Granular corneal dystrophy type I
Orphanet:98626	Orphanet:98962	\N	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98962	"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." []	224161	\N	\N	EFO	1	EFO	Stromal corneal dystrophy	Granular corneal dystrophy type I
Orphanet:34533	Orphanet:98626	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98962	"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." []	580937	\N	\N	EFO	2	EFO	Corneal dystrophy	Granular corneal dystrophy type I
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98962	"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." []	1164947	\N	\N	EFO	3	EFO	Rare genetic eye disease	Granular corneal dystrophy type I
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98962	"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." []	2048876	\N	\N	EFO	4	EFO	genetic disorder	Granular corneal dystrophy type I
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98962	"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." []	2048877	\N	\N	EFO	4	EFO	eye disease	Granular corneal dystrophy type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98962	"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." []	3198942	\N	\N	EFO	5	EFO	disease	Granular corneal dystrophy type I
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98962	"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." []	3198943	\N	\N	EFO	5	EFO	disease	Granular corneal dystrophy type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98962	"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." []	4404222	\N	\N	EFO	6	EFO	disposition	Granular corneal dystrophy type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98962	"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." []	5419908	\N	\N	EFO	7	EFO	material property	Granular corneal dystrophy type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98962	"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." []	6153958	\N	\N	EFO	8	EFO	experimental factor	Granular corneal dystrophy type I
Orphanet:98963	\N	\N	"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." []	Orphanet:98963	"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." []	79139	\N	\N	EFO	0	EFO	Granular corneal dystrophy type II	Granular corneal dystrophy type II
Orphanet:98626	Orphanet:98963	\N	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98963	"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." []	224162	\N	\N	EFO	1	EFO	Stromal corneal dystrophy	Granular corneal dystrophy type II
Orphanet:34533	Orphanet:98626	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98963	"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." []	580938	\N	\N	EFO	2	EFO	Corneal dystrophy	Granular corneal dystrophy type II
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98963	"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." []	1164948	\N	\N	EFO	3	EFO	Rare genetic eye disease	Granular corneal dystrophy type II
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98963	"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." []	2048878	\N	\N	EFO	4	EFO	genetic disorder	Granular corneal dystrophy type II
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98963	"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." []	2048879	\N	\N	EFO	4	EFO	eye disease	Granular corneal dystrophy type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98963	"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." []	3198944	\N	\N	EFO	5	EFO	disease	Granular corneal dystrophy type II
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98963	"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." []	3198945	\N	\N	EFO	5	EFO	disease	Granular corneal dystrophy type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98963	"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." []	4404223	\N	\N	EFO	6	EFO	disposition	Granular corneal dystrophy type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98963	"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." []	5419909	\N	\N	EFO	7	EFO	material property	Granular corneal dystrophy type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98963	"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." []	6153959	\N	\N	EFO	8	EFO	experimental factor	Granular corneal dystrophy type II
Orphanet:98964	\N	\N	"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." []	Orphanet:98964	"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." []	79140	\N	\N	EFO	0	EFO	Lattice corneal dystrophy type I	Lattice corneal dystrophy type I
Orphanet:98626	Orphanet:98964	\N	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98964	"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." []	224163	\N	\N	EFO	1	EFO	Stromal corneal dystrophy	Lattice corneal dystrophy type I
Orphanet:34533	Orphanet:98626	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98964	"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." []	580939	\N	\N	EFO	2	EFO	Corneal dystrophy	Lattice corneal dystrophy type I
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98964	"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." []	1164949	\N	\N	EFO	3	EFO	Rare genetic eye disease	Lattice corneal dystrophy type I
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98964	"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." []	2048880	\N	\N	EFO	4	EFO	genetic disorder	Lattice corneal dystrophy type I
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98964	"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." []	2048881	\N	\N	EFO	4	EFO	eye disease	Lattice corneal dystrophy type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98964	"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." []	3198946	\N	\N	EFO	5	EFO	disease	Lattice corneal dystrophy type I
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98964	"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." []	3198947	\N	\N	EFO	5	EFO	disease	Lattice corneal dystrophy type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98964	"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." []	4404224	\N	\N	EFO	6	EFO	disposition	Lattice corneal dystrophy type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98964	"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." []	5419910	\N	\N	EFO	7	EFO	material property	Lattice corneal dystrophy type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98964	"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." []	6153960	\N	\N	EFO	8	EFO	experimental factor	Lattice corneal dystrophy type I
Orphanet:98967	\N	\N	"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." []	Orphanet:98967	"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." []	79141	\N	\N	EFO	0	EFO	Schnyder corneal dystrophy	Schnyder corneal dystrophy
Orphanet:98626	Orphanet:98967	\N	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98967	"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." []	224164	\N	\N	EFO	1	EFO	Stromal corneal dystrophy	Schnyder corneal dystrophy
Orphanet:34533	Orphanet:98626	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98967	"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." []	580940	\N	\N	EFO	2	EFO	Corneal dystrophy	Schnyder corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98967	"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." []	1164950	\N	\N	EFO	3	EFO	Rare genetic eye disease	Schnyder corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98967	"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." []	2048882	\N	\N	EFO	4	EFO	genetic disorder	Schnyder corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98967	"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." []	2048883	\N	\N	EFO	4	EFO	eye disease	Schnyder corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98967	"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." []	3198948	\N	\N	EFO	5	EFO	disease	Schnyder corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98967	"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." []	3198949	\N	\N	EFO	5	EFO	disease	Schnyder corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98967	"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." []	4404225	\N	\N	EFO	6	EFO	disposition	Schnyder corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98967	"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." []	5419911	\N	\N	EFO	7	EFO	material property	Schnyder corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98967	"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." []	6153961	\N	\N	EFO	8	EFO	experimental factor	Schnyder corneal dystrophy
Orphanet:98969	\N	\N	"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." []	Orphanet:98969	"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." []	79142	\N	\N	EFO	0	EFO	Macular corneal dystrophy	Macular corneal dystrophy
Orphanet:98626	Orphanet:98969	\N	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98969	"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." []	224165	\N	\N	EFO	1	EFO	Stromal corneal dystrophy	Macular corneal dystrophy
Orphanet:34533	Orphanet:98626	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98969	"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." []	580941	\N	\N	EFO	2	EFO	Corneal dystrophy	Macular corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98969	"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." []	1164951	\N	\N	EFO	3	EFO	Rare genetic eye disease	Macular corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98969	"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." []	2048884	\N	\N	EFO	4	EFO	genetic disorder	Macular corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98969	"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." []	2048885	\N	\N	EFO	4	EFO	eye disease	Macular corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98969	"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." []	3198950	\N	\N	EFO	5	EFO	disease	Macular corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98969	"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." []	3198951	\N	\N	EFO	5	EFO	disease	Macular corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98969	"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." []	4404226	\N	\N	EFO	6	EFO	disposition	Macular corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98969	"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." []	5419912	\N	\N	EFO	7	EFO	material property	Macular corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98969	"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." []	6153962	\N	\N	EFO	8	EFO	experimental factor	Macular corneal dystrophy
Orphanet:98970	\N	\N	"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." []	Orphanet:98970	"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." []	79143	\N	\N	EFO	0	EFO	Fleck corneal dystrophy	Fleck corneal dystrophy
Orphanet:98626	Orphanet:98970	\N	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98970	"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." []	224166	\N	\N	EFO	1	EFO	Stromal corneal dystrophy	Fleck corneal dystrophy
Orphanet:34533	Orphanet:98626	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98970	"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." []	580942	\N	\N	EFO	2	EFO	Corneal dystrophy	Fleck corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98970	"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." []	1164952	\N	\N	EFO	3	EFO	Rare genetic eye disease	Fleck corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98970	"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." []	2048886	\N	\N	EFO	4	EFO	genetic disorder	Fleck corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98970	"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." []	2048887	\N	\N	EFO	4	EFO	eye disease	Fleck corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98970	"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." []	3198952	\N	\N	EFO	5	EFO	disease	Fleck corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98970	"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." []	3198953	\N	\N	EFO	5	EFO	disease	Fleck corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98970	"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." []	4404227	\N	\N	EFO	6	EFO	disposition	Fleck corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98970	"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." []	5419913	\N	\N	EFO	7	EFO	material property	Fleck corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98970	"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." []	6153963	\N	\N	EFO	8	EFO	experimental factor	Fleck corneal dystrophy
Orphanet:98971	\N	\N	"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." []	Orphanet:98971	"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." []	79144	\N	\N	EFO	0	EFO	Posterior amorphous corneal dystrophy	Posterior amorphous corneal dystrophy
Orphanet:98626	Orphanet:98971	\N	"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98971	"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." []	224167	\N	\N	EFO	1	EFO	Stromal corneal dystrophy	Posterior amorphous corneal dystrophy
Orphanet:34533	Orphanet:98626	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98971	"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." []	580943	\N	\N	EFO	2	EFO	Corneal dystrophy	Posterior amorphous corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98971	"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." []	1164953	\N	\N	EFO	3	EFO	Rare genetic eye disease	Posterior amorphous corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98971	"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." []	2048888	\N	\N	EFO	4	EFO	genetic disorder	Posterior amorphous corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98971	"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." []	2048889	\N	\N	EFO	4	EFO	eye disease	Posterior amorphous corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98971	"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." []	3198954	\N	\N	EFO	5	EFO	disease	Posterior amorphous corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98971	"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." []	3198955	\N	\N	EFO	5	EFO	disease	Posterior amorphous corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98971	"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." []	4404228	\N	\N	EFO	6	EFO	disposition	Posterior amorphous corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98971	"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." []	5419914	\N	\N	EFO	7	EFO	material property	Posterior amorphous corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98971	"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." []	6153964	\N	\N	EFO	8	EFO	experimental factor	Posterior amorphous corneal dystrophy
Orphanet:98972	\N	\N	"Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." []	Orphanet:98972	"Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." []	79145	\N	\N	EFO	0	EFO	Central cloudy dystrophy of Francois	Central cloudy dystrophy of Francois
Orphanet:98627	Orphanet:98972	\N	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98972	"Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." []	224168	\N	\N	EFO	1	EFO	Posterior corneal dystrophy	Central cloudy dystrophy of Francois
Orphanet:34533	Orphanet:98627	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98972	"Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." []	580944	\N	\N	EFO	2	EFO	Corneal dystrophy	Central cloudy dystrophy of Francois
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98972	"Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." []	1164954	\N	\N	EFO	3	EFO	Rare genetic eye disease	Central cloudy dystrophy of Francois
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98972	"Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." []	2048890	\N	\N	EFO	4	EFO	genetic disorder	Central cloudy dystrophy of Francois
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98972	"Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." []	2048891	\N	\N	EFO	4	EFO	eye disease	Central cloudy dystrophy of Francois
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98972	"Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." []	3198956	\N	\N	EFO	5	EFO	disease	Central cloudy dystrophy of Francois
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98972	"Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." []	3198957	\N	\N	EFO	5	EFO	disease	Central cloudy dystrophy of Francois
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98972	"Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." []	4404229	\N	\N	EFO	6	EFO	disposition	Central cloudy dystrophy of Francois
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98972	"Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." []	5419915	\N	\N	EFO	7	EFO	material property	Central cloudy dystrophy of Francois
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98972	"Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." []	6153965	\N	\N	EFO	8	EFO	experimental factor	Central cloudy dystrophy of Francois
Orphanet:98973	\N	\N	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	79146	\N	\N	EFO	0	EFO	Posterior polymorphous corneal dystrophy	Posterior polymorphous corneal dystrophy
Orphanet:98627	Orphanet:98973	\N	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	224169	\N	\N	EFO	1	EFO	Posterior corneal dystrophy	Posterior polymorphous corneal dystrophy
Orphanet:98637	Orphanet:98973	\N	"" []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	224170	\N	\N	EFO	1	EFO	Secondary glaucoma due to a proliferation and differentiation anomaly	Posterior polymorphous corneal dystrophy
Orphanet:34533	Orphanet:98627	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	580945	\N	\N	EFO	2	EFO	Corneal dystrophy	Posterior polymorphous corneal dystrophy
Orphanet:98631	Orphanet:98637	\N	"" []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	580946	\N	\N	EFO	2	EFO	Secondary dysgenetic glaucoma	Posterior polymorphous corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	1164955	\N	\N	EFO	3	EFO	Rare genetic eye disease	Posterior polymorphous corneal dystrophy
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	1164956	\N	\N	EFO	3	EFO	Hereditary glaucoma	Posterior polymorphous corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	5419917	\N	\N	EFO	7	EFO	genetic disorder	Posterior polymorphous corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	5419918	\N	\N	EFO	7	EFO	eye disease	Posterior polymorphous corneal dystrophy
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	2048894	\N	\N	EFO	4	EFO	Non-syndromic developmental defect of the eye	Posterior polymorphous corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	5817939	\N	\N	EFO	8	EFO	disease	Posterior polymorphous corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	5817940	\N	\N	EFO	8	EFO	disease	Posterior polymorphous corneal dystrophy
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	3198960	\N	\N	EFO	5	EFO	Genetic developmental defect of the eye	Posterior polymorphous corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	6410482	\N	\N	EFO	9	EFO	disposition	Posterior polymorphous corneal dystrophy
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	4404231	\N	\N	EFO	6	EFO	Rare genetic eye disease	Posterior polymorphous corneal dystrophy
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	4404232	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Posterior polymorphous corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	6808281	\N	\N	EFO	10	EFO	material property	Posterior polymorphous corneal dystrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	5419919	\N	\N	EFO	7	EFO	genetic disorder	Posterior polymorphous corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98973	"Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." []	7048893	\N	\N	EFO	11	EFO	experimental factor	Posterior polymorphous corneal dystrophy
Orphanet:98974	\N	\N	"Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." []	Orphanet:98974	"Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." []	79147	\N	\N	EFO	0	EFO	Fuchs endothelial corneal dystrophy	Fuchs endothelial corneal dystrophy
Orphanet:98627	Orphanet:98974	\N	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98974	"Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." []	224171	\N	\N	EFO	1	EFO	Posterior corneal dystrophy	Fuchs endothelial corneal dystrophy
Orphanet:34533	Orphanet:98627	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98974	"Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." []	580947	\N	\N	EFO	2	EFO	Corneal dystrophy	Fuchs endothelial corneal dystrophy
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98974	"Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." []	1164957	\N	\N	EFO	3	EFO	Rare genetic eye disease	Fuchs endothelial corneal dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98974	"Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." []	2048895	\N	\N	EFO	4	EFO	genetic disorder	Fuchs endothelial corneal dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98974	"Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." []	2048896	\N	\N	EFO	4	EFO	eye disease	Fuchs endothelial corneal dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98974	"Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." []	3198961	\N	\N	EFO	5	EFO	disease	Fuchs endothelial corneal dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98974	"Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." []	3198962	\N	\N	EFO	5	EFO	disease	Fuchs endothelial corneal dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98974	"Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." []	4404233	\N	\N	EFO	6	EFO	disposition	Fuchs endothelial corneal dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98974	"Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." []	5419920	\N	\N	EFO	7	EFO	material property	Fuchs endothelial corneal dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98974	"Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." []	6153967	\N	\N	EFO	8	EFO	experimental factor	Fuchs endothelial corneal dystrophy
Orphanet:98975	\N	\N	"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." []	Orphanet:98975	"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." []	79148	\N	\N	EFO	0	EFO	Congenital hereditary endothelial dystrophy type I	Congenital hereditary endothelial dystrophy type I
Orphanet:98627	Orphanet:98975	\N	"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." []	Orphanet:98975	"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." []	224172	\N	\N	EFO	1	EFO	Posterior corneal dystrophy	Congenital hereditary endothelial dystrophy type I
Orphanet:34533	Orphanet:98627	\N	"The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." []	Orphanet:98975	"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." []	580948	\N	\N	EFO	2	EFO	Corneal dystrophy	Congenital hereditary endothelial dystrophy type I
Orphanet:101435	Orphanet:34533	\N	"" []	Orphanet:98975	"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." []	1164958	\N	\N	EFO	3	EFO	Rare genetic eye disease	Congenital hereditary endothelial dystrophy type I
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98975	"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." []	2048897	\N	\N	EFO	4	EFO	genetic disorder	Congenital hereditary endothelial dystrophy type I
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98975	"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." []	2048898	\N	\N	EFO	4	EFO	eye disease	Congenital hereditary endothelial dystrophy type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98975	"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." []	3198963	\N	\N	EFO	5	EFO	disease	Congenital hereditary endothelial dystrophy type I
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98975	"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." []	3198964	\N	\N	EFO	5	EFO	disease	Congenital hereditary endothelial dystrophy type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98975	"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." []	4404234	\N	\N	EFO	6	EFO	disposition	Congenital hereditary endothelial dystrophy type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98975	"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." []	5419921	\N	\N	EFO	7	EFO	material property	Congenital hereditary endothelial dystrophy type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98975	"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." []	6153968	\N	\N	EFO	8	EFO	experimental factor	Congenital hereditary endothelial dystrophy type I
Orphanet:98976	\N	\N	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	79149	\N	\N	EFO	0	EFO	Congenital glaucoma	Congenital glaucoma
Orphanet:156005	Orphanet:98976	\N	"" []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	224173	\N	\N	EFO	1	EFO	Primary glaucoma	Congenital glaucoma
Orphanet:359	Orphanet:156005	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	580949	\N	\N	EFO	2	EFO	Hereditary glaucoma	Congenital glaucoma
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	1164959	\N	\N	EFO	3	EFO	Non-syndromic developmental defect of the eye	Congenital glaucoma
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	2048899	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Congenital glaucoma
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	3198965	\N	\N	EFO	5	EFO	Rare genetic eye disease	Congenital glaucoma
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	3198966	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Congenital glaucoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	4404235	\N	\N	EFO	6	EFO	genetic disorder	Congenital glaucoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	4404236	\N	\N	EFO	6	EFO	eye disease	Congenital glaucoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	4404237	\N	\N	EFO	6	EFO	genetic disorder	Congenital glaucoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	5419922	\N	\N	EFO	7	EFO	disease	Congenital glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	5419923	\N	\N	EFO	7	EFO	disease	Congenital glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	6153969	\N	\N	EFO	8	EFO	disposition	Congenital glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	6634689	\N	\N	EFO	9	EFO	material property	Congenital glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98976	"Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm." []	6926428	\N	\N	EFO	10	EFO	experimental factor	Congenital glaucoma
Orphanet:98977	\N	\N	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	79150	\N	\N	EFO	0	EFO	Juvenile glaucoma	Juvenile glaucoma
Orphanet:156005	Orphanet:98977	\N	"" []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	224174	\N	\N	EFO	1	EFO	Primary glaucoma	Juvenile glaucoma
Orphanet:359	Orphanet:156005	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	580950	\N	\N	EFO	2	EFO	Hereditary glaucoma	Juvenile glaucoma
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	1164960	\N	\N	EFO	3	EFO	Non-syndromic developmental defect of the eye	Juvenile glaucoma
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	2048900	\N	\N	EFO	4	EFO	Genetic developmental defect of the eye	Juvenile glaucoma
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	3198967	\N	\N	EFO	5	EFO	Rare genetic eye disease	Juvenile glaucoma
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	3198968	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Juvenile glaucoma
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	4404238	\N	\N	EFO	6	EFO	genetic disorder	Juvenile glaucoma
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	4404239	\N	\N	EFO	6	EFO	eye disease	Juvenile glaucoma
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	4404240	\N	\N	EFO	6	EFO	genetic disorder	Juvenile glaucoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	5419924	\N	\N	EFO	7	EFO	disease	Juvenile glaucoma
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	5419925	\N	\N	EFO	7	EFO	disease	Juvenile glaucoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	6153970	\N	\N	EFO	8	EFO	disposition	Juvenile glaucoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	6634690	\N	\N	EFO	9	EFO	material property	Juvenile glaucoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98977	"Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and when untreated substantial visual impairment ." []	6926429	\N	\N	EFO	10	EFO	experimental factor	Juvenile glaucoma
Orphanet:98978	\N	\N	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	79151	\N	\N	EFO	0	EFO	Axenfeld anomaly	Axenfeld anomaly
Orphanet:98633	Orphanet:98978	\N	"" []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	224175	\N	\N	EFO	1	EFO	Goniodysgenesis	Axenfeld anomaly
Orphanet:98632	Orphanet:98633	\N	"" []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	580951	\N	\N	EFO	2	EFO	Glaucoma associated with neural crest cell migration anomaly	Axenfeld anomaly
Orphanet:98631	Orphanet:98632	\N	"" []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	1164961	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Axenfeld anomaly
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	2048901	\N	\N	EFO	4	EFO	Hereditary glaucoma	Axenfeld anomaly
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	3198969	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Axenfeld anomaly
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	4404241	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Axenfeld anomaly
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	5419926	\N	\N	EFO	7	EFO	Rare genetic eye disease	Axenfeld anomaly
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	5419927	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Axenfeld anomaly
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	6153971	\N	\N	EFO	8	EFO	genetic disorder	Axenfeld anomaly
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	6153972	\N	\N	EFO	8	EFO	eye disease	Axenfeld anomaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	6153973	\N	\N	EFO	8	EFO	genetic disorder	Axenfeld anomaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	6634691	\N	\N	EFO	9	EFO	disease	Axenfeld anomaly
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	6634692	\N	\N	EFO	9	EFO	disease	Axenfeld anomaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	6926430	\N	\N	EFO	10	EFO	disposition	Axenfeld anomaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	7099379	\N	\N	EFO	11	EFO	material property	Axenfeld anomaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98978	"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies." []	7208370	\N	\N	EFO	12	EFO	experimental factor	Axenfeld anomaly
Orphanet:98979	\N	\N	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	79152	\N	\N	EFO	0	EFO	Chandler syndrome	Chandler syndrome
Orphanet:64734	Orphanet:98979	\N	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	224176	\N	\N	EFO	1	EFO	Iridocorneal endothelial syndrome	Chandler syndrome
Orphanet:98637	Orphanet:64734	\N	"" []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	580952	\N	\N	EFO	2	EFO	Secondary glaucoma due to a proliferation and differentiation anomaly	Chandler syndrome
Orphanet:98631	Orphanet:98637	\N	"" []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	1164962	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Chandler syndrome
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	2048902	\N	\N	EFO	4	EFO	Hereditary glaucoma	Chandler syndrome
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	3198970	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Chandler syndrome
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	4404242	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Chandler syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	5419928	\N	\N	EFO	7	EFO	Rare genetic eye disease	Chandler syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	5419929	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Chandler syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	6153974	\N	\N	EFO	8	EFO	genetic disorder	Chandler syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	6153975	\N	\N	EFO	8	EFO	eye disease	Chandler syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	6153976	\N	\N	EFO	8	EFO	genetic disorder	Chandler syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	6634693	\N	\N	EFO	9	EFO	disease	Chandler syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	6634694	\N	\N	EFO	9	EFO	disease	Chandler syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	6926431	\N	\N	EFO	10	EFO	disposition	Chandler syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	7099380	\N	\N	EFO	11	EFO	material property	Chandler syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98979	"Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." []	7208371	\N	\N	EFO	12	EFO	experimental factor	Chandler syndrome
Orphanet:98980	\N	\N	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	79153	\N	\N	EFO	0	EFO	Cogan-Reese syndrome	Cogan-Reese syndrome
Orphanet:64734	Orphanet:98980	\N	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	224177	\N	\N	EFO	1	EFO	Iridocorneal endothelial syndrome	Cogan-Reese syndrome
Orphanet:98637	Orphanet:64734	\N	"" []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	580953	\N	\N	EFO	2	EFO	Secondary glaucoma due to a proliferation and differentiation anomaly	Cogan-Reese syndrome
Orphanet:98631	Orphanet:98637	\N	"" []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	1164963	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Cogan-Reese syndrome
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	2048903	\N	\N	EFO	4	EFO	Hereditary glaucoma	Cogan-Reese syndrome
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	3198971	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Cogan-Reese syndrome
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	4404243	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Cogan-Reese syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	5419930	\N	\N	EFO	7	EFO	Rare genetic eye disease	Cogan-Reese syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	5419931	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Cogan-Reese syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	6153977	\N	\N	EFO	8	EFO	genetic disorder	Cogan-Reese syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	6153978	\N	\N	EFO	8	EFO	eye disease	Cogan-Reese syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	6153979	\N	\N	EFO	8	EFO	genetic disorder	Cogan-Reese syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	6634695	\N	\N	EFO	9	EFO	disease	Cogan-Reese syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	6634696	\N	\N	EFO	9	EFO	disease	Cogan-Reese syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	6926432	\N	\N	EFO	10	EFO	disposition	Cogan-Reese syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	7099381	\N	\N	EFO	11	EFO	material property	Cogan-Reese syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98980	"Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." []	7208372	\N	\N	EFO	12	EFO	experimental factor	Cogan-Reese syndrome
Orphanet:98981	\N	\N	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	79154	\N	\N	EFO	0	EFO	Essential iris atrophy	Essential iris atrophy
Orphanet:64734	Orphanet:98981	\N	"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	224178	\N	\N	EFO	1	EFO	Iridocorneal endothelial syndrome	Essential iris atrophy
Orphanet:98637	Orphanet:64734	\N	"" []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	580954	\N	\N	EFO	2	EFO	Secondary glaucoma due to a proliferation and differentiation anomaly	Essential iris atrophy
Orphanet:98631	Orphanet:98637	\N	"" []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	1164964	\N	\N	EFO	3	EFO	Secondary dysgenetic glaucoma	Essential iris atrophy
Orphanet:359	Orphanet:98631	\N	"Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	2048904	\N	\N	EFO	4	EFO	Hereditary glaucoma	Essential iris atrophy
Orphanet:108985	Orphanet:359	\N	"" []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	3198972	\N	\N	EFO	5	EFO	Non-syndromic developmental defect of the eye	Essential iris atrophy
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	4404244	\N	\N	EFO	6	EFO	Genetic developmental defect of the eye	Essential iris atrophy
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	5419932	\N	\N	EFO	7	EFO	Rare genetic eye disease	Essential iris atrophy
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	5419933	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Essential iris atrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	6153980	\N	\N	EFO	8	EFO	genetic disorder	Essential iris atrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	6153981	\N	\N	EFO	8	EFO	eye disease	Essential iris atrophy
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	6153982	\N	\N	EFO	8	EFO	genetic disorder	Essential iris atrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	6634697	\N	\N	EFO	9	EFO	disease	Essential iris atrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	6634698	\N	\N	EFO	9	EFO	disease	Essential iris atrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	6926433	\N	\N	EFO	10	EFO	disposition	Essential iris atrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	7099382	\N	\N	EFO	11	EFO	material property	Essential iris atrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98981	"Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." []	7208373	\N	\N	EFO	12	EFO	experimental factor	Essential iris atrophy
Orphanet:98983	\N	\N	"" []	Orphanet:98983	"" []	79155	\N	\N	EFO	0	EFO	Congenital cataract, Volkmann type	Congenital cataract, Volkmann type
Orphanet:91492	Orphanet:98983	\N	"" []	Orphanet:98983	"" []	224179	\N	\N	EFO	1	EFO	Non-syndromic congenital cataract	Congenital cataract, Volkmann type
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:98983	"" []	580955	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Congenital cataract, Volkmann type
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:98983	"" []	580956	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Congenital cataract, Volkmann type
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98983	"" []	1164965	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Congenital cataract, Volkmann type
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98983	"" []	1164966	\N	\N	EFO	3	EFO	Rare cataract	Congenital cataract, Volkmann type
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98983	"" []	2048905	\N	\N	EFO	4	EFO	Rare genetic eye disease	Congenital cataract, Volkmann type
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98983	"" []	2048906	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Congenital cataract, Volkmann type
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98983	"" []	2048907	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Congenital cataract, Volkmann type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98983	"" []	4404247	\N	\N	EFO	6	EFO	genetic disorder	Congenital cataract, Volkmann type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98983	"" []	4404248	\N	\N	EFO	6	EFO	eye disease	Congenital cataract, Volkmann type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98983	"" []	3198975	\N	\N	EFO	5	EFO	genetic disorder	Congenital cataract, Volkmann type
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98983	"" []	3198976	\N	\N	EFO	5	EFO	Rare genetic eye disease	Congenital cataract, Volkmann type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98983	"" []	5183786	\N	\N	EFO	7	EFO	disease	Congenital cataract, Volkmann type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98983	"" []	5183787	\N	\N	EFO	7	EFO	disease	Congenital cataract, Volkmann type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98983	"" []	5999108	\N	\N	EFO	8	EFO	disposition	Congenital cataract, Volkmann type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98983	"" []	6552068	\N	\N	EFO	9	EFO	material property	Congenital cataract, Volkmann type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98983	"" []	6889658	\N	\N	EFO	10	EFO	experimental factor	Congenital cataract, Volkmann type
Orphanet:98984	\N	\N	"" []	Orphanet:98984	"" []	79156	\N	\N	EFO	0	EFO	Pulverulent cataract	Pulverulent cataract
Orphanet:91492	Orphanet:98984	\N	"" []	Orphanet:98984	"" []	224180	\N	\N	EFO	1	EFO	Non-syndromic congenital cataract	Pulverulent cataract
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:98984	"" []	580957	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Pulverulent cataract
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:98984	"" []	580958	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Pulverulent cataract
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98984	"" []	1164967	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Pulverulent cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98984	"" []	1164968	\N	\N	EFO	3	EFO	Rare cataract	Pulverulent cataract
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98984	"" []	2048908	\N	\N	EFO	4	EFO	Rare genetic eye disease	Pulverulent cataract
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98984	"" []	2048909	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Pulverulent cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98984	"" []	2048910	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Pulverulent cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98984	"" []	4404251	\N	\N	EFO	6	EFO	genetic disorder	Pulverulent cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98984	"" []	4404252	\N	\N	EFO	6	EFO	eye disease	Pulverulent cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98984	"" []	3198979	\N	\N	EFO	5	EFO	genetic disorder	Pulverulent cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98984	"" []	3198980	\N	\N	EFO	5	EFO	Rare genetic eye disease	Pulverulent cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98984	"" []	5183788	\N	\N	EFO	7	EFO	disease	Pulverulent cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98984	"" []	5183789	\N	\N	EFO	7	EFO	disease	Pulverulent cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98984	"" []	5999109	\N	\N	EFO	8	EFO	disposition	Pulverulent cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98984	"" []	6552069	\N	\N	EFO	9	EFO	material property	Pulverulent cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98984	"" []	6889659	\N	\N	EFO	10	EFO	experimental factor	Pulverulent cataract
Orphanet:98985	\N	\N	"" []	Orphanet:98985	"" []	79157	\N	\N	EFO	0	EFO	Cataract with Y-shaped suture opacities	Cataract with Y-shaped suture opacities
Orphanet:91492	Orphanet:98985	\N	"" []	Orphanet:98985	"" []	224181	\N	\N	EFO	1	EFO	Non-syndromic congenital cataract	Cataract with Y-shaped suture opacities
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:98985	"" []	580959	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Cataract with Y-shaped suture opacities
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:98985	"" []	580960	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Cataract with Y-shaped suture opacities
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98985	"" []	1164969	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Cataract with Y-shaped suture opacities
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98985	"" []	1164970	\N	\N	EFO	3	EFO	Rare cataract	Cataract with Y-shaped suture opacities
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98985	"" []	2048911	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cataract with Y-shaped suture opacities
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98985	"" []	2048912	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cataract with Y-shaped suture opacities
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98985	"" []	2048913	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Cataract with Y-shaped suture opacities
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98985	"" []	4404255	\N	\N	EFO	6	EFO	genetic disorder	Cataract with Y-shaped suture opacities
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98985	"" []	4404256	\N	\N	EFO	6	EFO	eye disease	Cataract with Y-shaped suture opacities
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98985	"" []	3198983	\N	\N	EFO	5	EFO	genetic disorder	Cataract with Y-shaped suture opacities
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98985	"" []	3198984	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cataract with Y-shaped suture opacities
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98985	"" []	5183790	\N	\N	EFO	7	EFO	disease	Cataract with Y-shaped suture opacities
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98985	"" []	5183791	\N	\N	EFO	7	EFO	disease	Cataract with Y-shaped suture opacities
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98985	"" []	5999110	\N	\N	EFO	8	EFO	disposition	Cataract with Y-shaped suture opacities
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98985	"" []	6552070	\N	\N	EFO	9	EFO	material property	Cataract with Y-shaped suture opacities
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98985	"" []	6889660	\N	\N	EFO	10	EFO	experimental factor	Cataract with Y-shaped suture opacities
Orphanet:98986	\N	\N	"" []	Orphanet:98986	"" []	79158	\N	\N	EFO	0	EFO	Coppock-like cataract	Coppock-like cataract
Orphanet:91492	Orphanet:98986	\N	"" []	Orphanet:98986	"" []	224182	\N	\N	EFO	1	EFO	Non-syndromic congenital cataract	Coppock-like cataract
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:98986	"" []	580961	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Coppock-like cataract
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:98986	"" []	580962	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Coppock-like cataract
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98986	"" []	1164971	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coppock-like cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98986	"" []	1164972	\N	\N	EFO	3	EFO	Rare cataract	Coppock-like cataract
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98986	"" []	2048914	\N	\N	EFO	4	EFO	Rare genetic eye disease	Coppock-like cataract
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98986	"" []	2048915	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Coppock-like cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98986	"" []	2048916	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Coppock-like cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98986	"" []	4404259	\N	\N	EFO	6	EFO	genetic disorder	Coppock-like cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98986	"" []	4404260	\N	\N	EFO	6	EFO	eye disease	Coppock-like cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98986	"" []	3198987	\N	\N	EFO	5	EFO	genetic disorder	Coppock-like cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98986	"" []	3198988	\N	\N	EFO	5	EFO	Rare genetic eye disease	Coppock-like cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98986	"" []	5183792	\N	\N	EFO	7	EFO	disease	Coppock-like cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98986	"" []	5183793	\N	\N	EFO	7	EFO	disease	Coppock-like cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98986	"" []	5999111	\N	\N	EFO	8	EFO	disposition	Coppock-like cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98986	"" []	6552071	\N	\N	EFO	9	EFO	material property	Coppock-like cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98986	"" []	6889661	\N	\N	EFO	10	EFO	experimental factor	Coppock-like cataract
Orphanet:98987	\N	\N	"" []	Orphanet:98987	"" []	79159	\N	\N	EFO	0	EFO	Cataract, Hutterite type	Cataract, Hutterite type
Orphanet:91492	Orphanet:98987	\N	"" []	Orphanet:98987	"" []	224183	\N	\N	EFO	1	EFO	Non-syndromic congenital cataract	Cataract, Hutterite type
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:98987	"" []	580963	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Cataract, Hutterite type
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:98987	"" []	580964	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Cataract, Hutterite type
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98987	"" []	1164973	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Cataract, Hutterite type
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98987	"" []	1164974	\N	\N	EFO	3	EFO	Rare cataract	Cataract, Hutterite type
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98987	"" []	2048917	\N	\N	EFO	4	EFO	Rare genetic eye disease	Cataract, Hutterite type
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98987	"" []	2048918	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cataract, Hutterite type
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98987	"" []	2048919	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Cataract, Hutterite type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98987	"" []	4404263	\N	\N	EFO	6	EFO	genetic disorder	Cataract, Hutterite type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98987	"" []	4404264	\N	\N	EFO	6	EFO	eye disease	Cataract, Hutterite type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98987	"" []	3198991	\N	\N	EFO	5	EFO	genetic disorder	Cataract, Hutterite type
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98987	"" []	3198992	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cataract, Hutterite type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98987	"" []	5183794	\N	\N	EFO	7	EFO	disease	Cataract, Hutterite type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98987	"" []	5183795	\N	\N	EFO	7	EFO	disease	Cataract, Hutterite type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98987	"" []	5999112	\N	\N	EFO	8	EFO	disposition	Cataract, Hutterite type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98987	"" []	6552072	\N	\N	EFO	9	EFO	material property	Cataract, Hutterite type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98987	"" []	6889662	\N	\N	EFO	10	EFO	experimental factor	Cataract, Hutterite type
Orphanet:98988	\N	\N	"" []	Orphanet:98988	"" []	79160	\N	\N	EFO	0	EFO	Anterior polar cataract	Anterior polar cataract
Orphanet:91492	Orphanet:98988	\N	"" []	Orphanet:98988	"" []	224184	\N	\N	EFO	1	EFO	Non-syndromic congenital cataract	Anterior polar cataract
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:98988	"" []	580965	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Anterior polar cataract
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:98988	"" []	580966	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Anterior polar cataract
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98988	"" []	1164975	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Anterior polar cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98988	"" []	1164976	\N	\N	EFO	3	EFO	Rare cataract	Anterior polar cataract
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98988	"" []	2048920	\N	\N	EFO	4	EFO	Rare genetic eye disease	Anterior polar cataract
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98988	"" []	2048921	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Anterior polar cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98988	"" []	2048922	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Anterior polar cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98988	"" []	4404267	\N	\N	EFO	6	EFO	genetic disorder	Anterior polar cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98988	"" []	4404268	\N	\N	EFO	6	EFO	eye disease	Anterior polar cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98988	"" []	3198995	\N	\N	EFO	5	EFO	genetic disorder	Anterior polar cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98988	"" []	3198996	\N	\N	EFO	5	EFO	Rare genetic eye disease	Anterior polar cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98988	"" []	5183796	\N	\N	EFO	7	EFO	disease	Anterior polar cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98988	"" []	5183797	\N	\N	EFO	7	EFO	disease	Anterior polar cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98988	"" []	5999113	\N	\N	EFO	8	EFO	disposition	Anterior polar cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98988	"" []	6552073	\N	\N	EFO	9	EFO	material property	Anterior polar cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98988	"" []	6889663	\N	\N	EFO	10	EFO	experimental factor	Anterior polar cataract
Orphanet:98989	\N	\N	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	79161	\N	\N	EFO	0	EFO	Cerulean cataract	Cerulean cataract
Orphanet:217052	Orphanet:98989	\N	"" []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	224185	\N	\N	EFO	1	EFO	Early-onset non-syndromic cataract	Cerulean cataract
Orphanet:217049	Orphanet:217052	\N	"" []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	580967	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Cerulean cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	1164977	\N	\N	EFO	3	EFO	Rare cataract	Cerulean cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	2048923	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Cerulean cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	3198997	\N	\N	EFO	5	EFO	Rare genetic eye disease	Cerulean cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	4404269	\N	\N	EFO	6	EFO	genetic disorder	Cerulean cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	4404270	\N	\N	EFO	6	EFO	eye disease	Cerulean cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	5419940	\N	\N	EFO	7	EFO	disease	Cerulean cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	5419941	\N	\N	EFO	7	EFO	disease	Cerulean cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	6153989	\N	\N	EFO	8	EFO	disposition	Cerulean cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	6634705	\N	\N	EFO	9	EFO	material property	Cerulean cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98989	"Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." []	6926434	\N	\N	EFO	10	EFO	experimental factor	Cerulean cataract
Orphanet:98990	\N	\N	"" []	Orphanet:98990	"" []	79162	\N	\N	EFO	0	EFO	Coralliform cataract	Coralliform cataract
Orphanet:91492	Orphanet:98990	\N	"" []	Orphanet:98990	"" []	224186	\N	\N	EFO	1	EFO	Non-syndromic congenital cataract	Coralliform cataract
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:98990	"" []	580968	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Coralliform cataract
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:98990	"" []	580969	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Coralliform cataract
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98990	"" []	1164978	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Coralliform cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98990	"" []	1164979	\N	\N	EFO	3	EFO	Rare cataract	Coralliform cataract
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98990	"" []	2048924	\N	\N	EFO	4	EFO	Rare genetic eye disease	Coralliform cataract
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98990	"" []	2048925	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Coralliform cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98990	"" []	2048926	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Coralliform cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98990	"" []	4404273	\N	\N	EFO	6	EFO	genetic disorder	Coralliform cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98990	"" []	4404274	\N	\N	EFO	6	EFO	eye disease	Coralliform cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98990	"" []	3199000	\N	\N	EFO	5	EFO	genetic disorder	Coralliform cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98990	"" []	3199001	\N	\N	EFO	5	EFO	Rare genetic eye disease	Coralliform cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98990	"" []	5183798	\N	\N	EFO	7	EFO	disease	Coralliform cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98990	"" []	5183799	\N	\N	EFO	7	EFO	disease	Coralliform cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98990	"" []	5999114	\N	\N	EFO	8	EFO	disposition	Coralliform cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98990	"" []	6552074	\N	\N	EFO	9	EFO	material property	Coralliform cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98990	"" []	6889664	\N	\N	EFO	10	EFO	experimental factor	Coralliform cataract
Orphanet:98991	\N	\N	"" []	Orphanet:98991	"" []	79163	\N	\N	EFO	0	EFO	Nuclear cataract	Nuclear cataract
Orphanet:91492	Orphanet:98991	\N	"" []	Orphanet:98991	"" []	224187	\N	\N	EFO	1	EFO	Non-syndromic congenital cataract	Nuclear cataract
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:98991	"" []	580970	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Nuclear cataract
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:98991	"" []	580971	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Nuclear cataract
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98991	"" []	1164980	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Nuclear cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98991	"" []	1164981	\N	\N	EFO	3	EFO	Rare cataract	Nuclear cataract
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98991	"" []	2048927	\N	\N	EFO	4	EFO	Rare genetic eye disease	Nuclear cataract
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98991	"" []	2048928	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Nuclear cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98991	"" []	2048929	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Nuclear cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98991	"" []	4404277	\N	\N	EFO	6	EFO	genetic disorder	Nuclear cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98991	"" []	4404278	\N	\N	EFO	6	EFO	eye disease	Nuclear cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98991	"" []	3199004	\N	\N	EFO	5	EFO	genetic disorder	Nuclear cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98991	"" []	3199005	\N	\N	EFO	5	EFO	Rare genetic eye disease	Nuclear cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98991	"" []	5183800	\N	\N	EFO	7	EFO	disease	Nuclear cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98991	"" []	5183801	\N	\N	EFO	7	EFO	disease	Nuclear cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98991	"" []	5999115	\N	\N	EFO	8	EFO	disposition	Nuclear cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98991	"" []	6552075	\N	\N	EFO	9	EFO	material property	Nuclear cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98991	"" []	6889665	\N	\N	EFO	10	EFO	experimental factor	Nuclear cataract
Orphanet:98992	\N	\N	"" []	Orphanet:98992	"" []	79164	\N	\N	EFO	0	EFO	Partial congenital cataract	Partial congenital cataract
Orphanet:91492	Orphanet:98992	\N	"" []	Orphanet:98992	"" []	224188	\N	\N	EFO	1	EFO	Non-syndromic congenital cataract	Partial congenital cataract
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:98992	"" []	580972	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Partial congenital cataract
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:98992	"" []	580973	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Partial congenital cataract
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98992	"" []	1164982	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Partial congenital cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98992	"" []	1164983	\N	\N	EFO	3	EFO	Rare cataract	Partial congenital cataract
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98992	"" []	2048930	\N	\N	EFO	4	EFO	Rare genetic eye disease	Partial congenital cataract
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98992	"" []	2048931	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Partial congenital cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98992	"" []	2048932	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Partial congenital cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98992	"" []	4404281	\N	\N	EFO	6	EFO	genetic disorder	Partial congenital cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98992	"" []	4404282	\N	\N	EFO	6	EFO	eye disease	Partial congenital cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98992	"" []	3199008	\N	\N	EFO	5	EFO	genetic disorder	Partial congenital cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98992	"" []	3199009	\N	\N	EFO	5	EFO	Rare genetic eye disease	Partial congenital cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98992	"" []	5183802	\N	\N	EFO	7	EFO	disease	Partial congenital cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98992	"" []	5183803	\N	\N	EFO	7	EFO	disease	Partial congenital cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98992	"" []	5999116	\N	\N	EFO	8	EFO	disposition	Partial congenital cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98992	"" []	6552076	\N	\N	EFO	9	EFO	material property	Partial congenital cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98992	"" []	6889666	\N	\N	EFO	10	EFO	experimental factor	Partial congenital cataract
Orphanet:98993	\N	\N	"" []	Orphanet:98993	"" []	79165	\N	\N	EFO	0	EFO	Posterior polar cataract	Posterior polar cataract
Orphanet:91492	Orphanet:98993	\N	"" []	Orphanet:98993	"" []	224189	\N	\N	EFO	1	EFO	Non-syndromic congenital cataract	Posterior polar cataract
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:98993	"" []	580974	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Posterior polar cataract
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:98993	"" []	580975	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Posterior polar cataract
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98993	"" []	1164984	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Posterior polar cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98993	"" []	1164985	\N	\N	EFO	3	EFO	Rare cataract	Posterior polar cataract
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98993	"" []	2048933	\N	\N	EFO	4	EFO	Rare genetic eye disease	Posterior polar cataract
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98993	"" []	2048934	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Posterior polar cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98993	"" []	2048935	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Posterior polar cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98993	"" []	4404285	\N	\N	EFO	6	EFO	genetic disorder	Posterior polar cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98993	"" []	4404286	\N	\N	EFO	6	EFO	eye disease	Posterior polar cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98993	"" []	3199012	\N	\N	EFO	5	EFO	genetic disorder	Posterior polar cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98993	"" []	3199013	\N	\N	EFO	5	EFO	Rare genetic eye disease	Posterior polar cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98993	"" []	5183804	\N	\N	EFO	7	EFO	disease	Posterior polar cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98993	"" []	5183805	\N	\N	EFO	7	EFO	disease	Posterior polar cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98993	"" []	5999117	\N	\N	EFO	8	EFO	disposition	Posterior polar cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98993	"" []	6552077	\N	\N	EFO	9	EFO	material property	Posterior polar cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98993	"" []	6889667	\N	\N	EFO	10	EFO	experimental factor	Posterior polar cataract
Orphanet:98994	\N	\N	"" []	Orphanet:98994	"" []	79166	\N	\N	EFO	0	EFO	Total congenital cataract	Total congenital cataract
Orphanet:91492	Orphanet:98994	\N	"" []	Orphanet:98994	"" []	224190	\N	\N	EFO	1	EFO	Non-syndromic congenital cataract	Total congenital cataract
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:98994	"" []	580976	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Total congenital cataract
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:98994	"" []	580977	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Total congenital cataract
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98994	"" []	1164986	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Total congenital cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98994	"" []	1164987	\N	\N	EFO	3	EFO	Rare cataract	Total congenital cataract
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98994	"" []	2048936	\N	\N	EFO	4	EFO	Rare genetic eye disease	Total congenital cataract
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98994	"" []	2048937	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Total congenital cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98994	"" []	2048938	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Total congenital cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98994	"" []	4404289	\N	\N	EFO	6	EFO	genetic disorder	Total congenital cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98994	"" []	4404290	\N	\N	EFO	6	EFO	eye disease	Total congenital cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98994	"" []	3199016	\N	\N	EFO	5	EFO	genetic disorder	Total congenital cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98994	"" []	3199017	\N	\N	EFO	5	EFO	Rare genetic eye disease	Total congenital cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98994	"" []	5183806	\N	\N	EFO	7	EFO	disease	Total congenital cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98994	"" []	5183807	\N	\N	EFO	7	EFO	disease	Total congenital cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98994	"" []	5999118	\N	\N	EFO	8	EFO	disposition	Total congenital cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98994	"" []	6552078	\N	\N	EFO	9	EFO	material property	Total congenital cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98994	"" []	6889668	\N	\N	EFO	10	EFO	experimental factor	Total congenital cataract
Orphanet:98995	\N	\N	"" []	Orphanet:98995	"" []	79167	\N	\N	EFO	0	EFO	Zonular cataract	Zonular cataract
Orphanet:91492	Orphanet:98995	\N	"" []	Orphanet:98995	"" []	224191	\N	\N	EFO	1	EFO	Non-syndromic congenital cataract	Zonular cataract
Orphanet:108985	Orphanet:91492	\N	"" []	Orphanet:98995	"" []	580978	\N	\N	EFO	2	EFO	Non-syndromic developmental defect of the eye	Zonular cataract
Orphanet:217049	Orphanet:91492	\N	"" []	Orphanet:98995	"" []	580979	\N	\N	EFO	2	EFO	Rare non-syndromic cataract	Zonular cataract
Orphanet:183557	Orphanet:108985	\N	"" []	Orphanet:98995	"" []	1164988	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Zonular cataract
Orphanet:98640	Orphanet:217049	\N	"" []	Orphanet:98995	"" []	1164989	\N	\N	EFO	3	EFO	Rare cataract	Zonular cataract
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:98995	"" []	2048939	\N	\N	EFO	4	EFO	Rare genetic eye disease	Zonular cataract
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:98995	"" []	2048940	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Zonular cataract
Orphanet:183607	Orphanet:98640	\N	"" []	Orphanet:98995	"" []	2048941	\N	\N	EFO	4	EFO	Genetic lens and zonula anomaly	Zonular cataract
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98995	"" []	4404293	\N	\N	EFO	6	EFO	genetic disorder	Zonular cataract
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:98995	"" []	4404294	\N	\N	EFO	6	EFO	eye disease	Zonular cataract
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:98995	"" []	3199020	\N	\N	EFO	5	EFO	genetic disorder	Zonular cataract
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:98995	"" []	3199021	\N	\N	EFO	5	EFO	Rare genetic eye disease	Zonular cataract
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98995	"" []	5183808	\N	\N	EFO	7	EFO	disease	Zonular cataract
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:98995	"" []	5183809	\N	\N	EFO	7	EFO	disease	Zonular cataract
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:98995	"" []	5999119	\N	\N	EFO	8	EFO	disposition	Zonular cataract
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:98995	"" []	6552079	\N	\N	EFO	9	EFO	material property	Zonular cataract
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:98995	"" []	6889669	\N	\N	EFO	10	EFO	experimental factor	Zonular cataract
Orphanet:99	\N	\N	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	79168	\N	\N	EFO	0	EFO	Autosomal dominant cerebellar ataxia	Autosomal dominant cerebellar ataxia
Orphanet:183518	Orphanet:99	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	224192	\N	\N	EFO	1	EFO	Rare hereditary ataxia	Autosomal dominant cerebellar ataxia
Orphanet:98540	Orphanet:99	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	224193	\N	\N	EFO	1	EFO	Late-onset ataxia with dementia	Autosomal dominant cerebellar ataxia
Orphanet:98693	Orphanet:99	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	224194	\N	\N	EFO	1	EFO	Spinocerebellar ataxia with oculomotor anomaly	Autosomal dominant cerebellar ataxia
Orphanet:71859	Orphanet:183518	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	580980	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia
Orphanet:98538	Orphanet:98540	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	580981	\N	\N	EFO	2	EFO	Ataxia with dementia	Autosomal dominant cerebellar ataxia
Orphanet:98692	Orphanet:98693	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	580982	\N	\N	EFO	2	EFO	Nervous system anomaly with eye involvement	Autosomal dominant cerebellar ataxia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	4404297	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant cerebellar ataxia
Orphanet:276058	Orphanet:98538	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	1164991	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease with dementia	Autosomal dominant cerebellar ataxia
Orphanet:183616	Orphanet:98692	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	1164992	\N	\N	EFO	3	EFO	Genetic neuro-ophthalmological disease	Autosomal dominant cerebellar ataxia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	5028498	\N	\N	EFO	7	EFO	disease	Autosomal dominant cerebellar ataxia
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	2048943	\N	\N	EFO	4	EFO	Genetic dementia	Autosomal dominant cerebellar ataxia
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	2048944	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal dominant cerebellar ataxia
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	2048945	\N	\N	EFO	4	EFO	Rare genetic eye disease	Autosomal dominant cerebellar ataxia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	5817941	\N	\N	EFO	8	EFO	disposition	Autosomal dominant cerebellar ataxia
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	3199023	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant cerebellar ataxia
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	3199024	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	3199025	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant cerebellar ataxia
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	3199026	\N	\N	EFO	5	EFO	brain disease	Autosomal dominant cerebellar ataxia
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	3199027	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant cerebellar ataxia
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	3199028	\N	\N	EFO	5	EFO	genetic disorder	Autosomal dominant cerebellar ataxia
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	3199029	\N	\N	EFO	5	EFO	eye disease	Autosomal dominant cerebellar ataxia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	6410483	\N	\N	EFO	9	EFO	material property	Autosomal dominant cerebellar ataxia
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	4404296	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant cerebellar ataxia
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	4404298	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant cerebellar ataxia
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	4404300	\N	\N	EFO	6	EFO	disease	Autosomal dominant cerebellar ataxia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	6808282	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant cerebellar ataxia
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99	"Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." []	5419949	\N	\N	EFO	7	EFO	disease	Autosomal dominant cerebellar ataxia
Orphanet:990	\N	\N	"" []	Orphanet:990	"" []	79169	\N	\N	EFO	0	EFO	Agnathia - holoprosencephaly - situs inversus	Agnathia - holoprosencephaly - situs inversus
Orphanet:102283	Orphanet:990	\N	"" []	Orphanet:990	"" []	224195	\N	\N	EFO	1	EFO	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Agnathia - holoprosencephaly - situs inversus
Orphanet:183763	Orphanet:990	\N	"" []	Orphanet:990	"" []	224196	\N	\N	EFO	1	EFO	Rare genetic intellectual disability with developmental anomaly	Agnathia - holoprosencephaly - situs inversus
Orphanet:183533	Orphanet:102283	\N	"" []	Orphanet:990	"" []	580983	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Agnathia - holoprosencephaly - situs inversus
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:990	"" []	580984	\N	\N	EFO	2	EFO	Rare genetic intellectual disability	Agnathia - holoprosencephaly - situs inversus
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:990	"" []	1164993	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Agnathia - holoprosencephaly - situs inversus
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:990	"" []	1164994	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Agnathia - holoprosencephaly - situs inversus
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:990	"" []	2048946	\N	\N	EFO	4	EFO	genetic disorder	Agnathia - holoprosencephaly - situs inversus
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:990	"" []	2048947	\N	\N	EFO	4	EFO	genetic disorder	Agnathia - holoprosencephaly - situs inversus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:990	"" []	3199030	\N	\N	EFO	5	EFO	disease	Agnathia - holoprosencephaly - situs inversus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:990	"" []	4404301	\N	\N	EFO	6	EFO	disposition	Agnathia - holoprosencephaly - situs inversus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:990	"" []	5419950	\N	\N	EFO	7	EFO	material property	Agnathia - holoprosencephaly - situs inversus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:990	"" []	6153996	\N	\N	EFO	8	EFO	experimental factor	Agnathia - holoprosencephaly - situs inversus
Orphanet:99000	\N	\N	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	Orphanet:99000	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	79170	\N	\N	EFO	0	EFO	Adult-onset foveomacular vitelliform dystrophy	Adult-onset foveomacular vitelliform dystrophy
Orphanet:98664	Orphanet:99000	\N	"" []	Orphanet:99000	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	224197	\N	\N	EFO	1	EFO	Genetic macular dystrophy	Adult-onset foveomacular vitelliform dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:99000	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	580985	\N	\N	EFO	2	EFO	Retinal dystrophy	Adult-onset foveomacular vitelliform dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:99000	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	1164995	\N	\N	EFO	3	EFO	Genetic vitreous-retinal disease	Adult-onset foveomacular vitelliform dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:99000	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	2048948	\N	\N	EFO	4	EFO	Rare genetic eye disease	Adult-onset foveomacular vitelliform dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99000	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	3199031	\N	\N	EFO	5	EFO	genetic disorder	Adult-onset foveomacular vitelliform dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99000	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	3199032	\N	\N	EFO	5	EFO	eye disease	Adult-onset foveomacular vitelliform dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99000	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	4404302	\N	\N	EFO	6	EFO	disease	Adult-onset foveomacular vitelliform dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99000	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	4404303	\N	\N	EFO	6	EFO	disease	Adult-onset foveomacular vitelliform dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99000	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	5419951	\N	\N	EFO	7	EFO	disposition	Adult-onset foveomacular vitelliform dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99000	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	6153997	\N	\N	EFO	8	EFO	material property	Adult-onset foveomacular vitelliform dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99000	"Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." []	6634712	\N	\N	EFO	9	EFO	experimental factor	Adult-onset foveomacular vitelliform dystrophy
Orphanet:99001	\N	\N	"" []	Orphanet:99001	"" []	79171	\N	\N	EFO	0	EFO	Butterfly-shaped pigment dystrophy	Butterfly-shaped pigment dystrophy
Orphanet:63454	Orphanet:99001	\N	"" []	Orphanet:99001	"" []	224198	\N	\N	EFO	1	EFO	Patterned dystrophy of the retinal pigment epithelium	Butterfly-shaped pigment dystrophy
Orphanet:98664	Orphanet:63454	\N	"" []	Orphanet:99001	"" []	580986	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Butterfly-shaped pigment dystrophy
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:99001	"" []	1164996	\N	\N	EFO	3	EFO	Retinal dystrophy	Butterfly-shaped pigment dystrophy
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:99001	"" []	2048949	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Butterfly-shaped pigment dystrophy
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:99001	"" []	3199033	\N	\N	EFO	5	EFO	Rare genetic eye disease	Butterfly-shaped pigment dystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99001	"" []	4404304	\N	\N	EFO	6	EFO	genetic disorder	Butterfly-shaped pigment dystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99001	"" []	4404305	\N	\N	EFO	6	EFO	eye disease	Butterfly-shaped pigment dystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99001	"" []	5419952	\N	\N	EFO	7	EFO	disease	Butterfly-shaped pigment dystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99001	"" []	5419953	\N	\N	EFO	7	EFO	disease	Butterfly-shaped pigment dystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99001	"" []	6153998	\N	\N	EFO	8	EFO	disposition	Butterfly-shaped pigment dystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99001	"" []	6634713	\N	\N	EFO	9	EFO	material property	Butterfly-shaped pigment dystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99001	"" []	6926435	\N	\N	EFO	10	EFO	experimental factor	Butterfly-shaped pigment dystrophy
Orphanet:99002	\N	\N	"" []	Orphanet:99002	"" []	79172	\N	\N	EFO	0	EFO	Reticular dystrophy of the retinal pigment epithelium	Reticular dystrophy of the retinal pigment epithelium
Orphanet:63454	Orphanet:99002	\N	"" []	Orphanet:99002	"" []	224199	\N	\N	EFO	1	EFO	Patterned dystrophy of the retinal pigment epithelium	Reticular dystrophy of the retinal pigment epithelium
Orphanet:98664	Orphanet:63454	\N	"" []	Orphanet:99002	"" []	580987	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Reticular dystrophy of the retinal pigment epithelium
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:99002	"" []	1164997	\N	\N	EFO	3	EFO	Retinal dystrophy	Reticular dystrophy of the retinal pigment epithelium
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:99002	"" []	2048950	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Reticular dystrophy of the retinal pigment epithelium
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:99002	"" []	3199034	\N	\N	EFO	5	EFO	Rare genetic eye disease	Reticular dystrophy of the retinal pigment epithelium
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99002	"" []	4404306	\N	\N	EFO	6	EFO	genetic disorder	Reticular dystrophy of the retinal pigment epithelium
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99002	"" []	4404307	\N	\N	EFO	6	EFO	eye disease	Reticular dystrophy of the retinal pigment epithelium
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99002	"" []	5419954	\N	\N	EFO	7	EFO	disease	Reticular dystrophy of the retinal pigment epithelium
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99002	"" []	5419955	\N	\N	EFO	7	EFO	disease	Reticular dystrophy of the retinal pigment epithelium
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99002	"" []	6153999	\N	\N	EFO	8	EFO	disposition	Reticular dystrophy of the retinal pigment epithelium
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99002	"" []	6634714	\N	\N	EFO	9	EFO	material property	Reticular dystrophy of the retinal pigment epithelium
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99002	"" []	6926436	\N	\N	EFO	10	EFO	experimental factor	Reticular dystrophy of the retinal pigment epithelium
Orphanet:99003	\N	\N	"" []	Orphanet:99003	"" []	79173	\N	\N	EFO	0	EFO	Multifocal pattern dystrophy simulating fundus flavimaculatus	Multifocal pattern dystrophy simulating fundus flavimaculatus
Orphanet:63454	Orphanet:99003	\N	"" []	Orphanet:99003	"" []	224200	\N	\N	EFO	1	EFO	Patterned dystrophy of the retinal pigment epithelium	Multifocal pattern dystrophy simulating fundus flavimaculatus
Orphanet:98664	Orphanet:63454	\N	"" []	Orphanet:99003	"" []	580988	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Multifocal pattern dystrophy simulating fundus flavimaculatus
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:99003	"" []	1164998	\N	\N	EFO	3	EFO	Retinal dystrophy	Multifocal pattern dystrophy simulating fundus flavimaculatus
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:99003	"" []	2048951	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Multifocal pattern dystrophy simulating fundus flavimaculatus
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:99003	"" []	3199035	\N	\N	EFO	5	EFO	Rare genetic eye disease	Multifocal pattern dystrophy simulating fundus flavimaculatus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99003	"" []	4404308	\N	\N	EFO	6	EFO	genetic disorder	Multifocal pattern dystrophy simulating fundus flavimaculatus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99003	"" []	4404309	\N	\N	EFO	6	EFO	eye disease	Multifocal pattern dystrophy simulating fundus flavimaculatus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99003	"" []	5419956	\N	\N	EFO	7	EFO	disease	Multifocal pattern dystrophy simulating fundus flavimaculatus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99003	"" []	5419957	\N	\N	EFO	7	EFO	disease	Multifocal pattern dystrophy simulating fundus flavimaculatus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99003	"" []	6154000	\N	\N	EFO	8	EFO	disposition	Multifocal pattern dystrophy simulating fundus flavimaculatus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99003	"" []	6634715	\N	\N	EFO	9	EFO	material property	Multifocal pattern dystrophy simulating fundus flavimaculatus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99003	"" []	6926437	\N	\N	EFO	10	EFO	experimental factor	Multifocal pattern dystrophy simulating fundus flavimaculatus
Orphanet:99004	\N	\N	"" []	Orphanet:99004	"" []	79174	\N	\N	EFO	0	EFO	Fundus pulverulentus	Fundus pulverulentus
Orphanet:63454	Orphanet:99004	\N	"" []	Orphanet:99004	"" []	224201	\N	\N	EFO	1	EFO	Patterned dystrophy of the retinal pigment epithelium	Fundus pulverulentus
Orphanet:98664	Orphanet:63454	\N	"" []	Orphanet:99004	"" []	580989	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Fundus pulverulentus
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:99004	"" []	1164999	\N	\N	EFO	3	EFO	Retinal dystrophy	Fundus pulverulentus
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:99004	"" []	2048952	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Fundus pulverulentus
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:99004	"" []	3199036	\N	\N	EFO	5	EFO	Rare genetic eye disease	Fundus pulverulentus
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99004	"" []	4404310	\N	\N	EFO	6	EFO	genetic disorder	Fundus pulverulentus
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99004	"" []	4404311	\N	\N	EFO	6	EFO	eye disease	Fundus pulverulentus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99004	"" []	5419958	\N	\N	EFO	7	EFO	disease	Fundus pulverulentus
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99004	"" []	5419959	\N	\N	EFO	7	EFO	disease	Fundus pulverulentus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99004	"" []	6154001	\N	\N	EFO	8	EFO	disposition	Fundus pulverulentus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99004	"" []	6634716	\N	\N	EFO	9	EFO	material property	Fundus pulverulentus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99004	"" []	6926438	\N	\N	EFO	10	EFO	experimental factor	Fundus pulverulentus
Orphanet:99012	\N	\N	"" []	Orphanet:99012	"" []	79175	\N	\N	EFO	0	EFO	Autosomal recessive optic atrophy, OPA6 type	Autosomal recessive optic atrophy, OPA6 type
Orphanet:98676	Orphanet:99012	\N	"" []	Orphanet:99012	"" []	224202	\N	\N	EFO	1	EFO	Autosomal recessive isolated optic atrophy	Autosomal recessive optic atrophy, OPA6 type
Orphanet:98675	Orphanet:98676	\N	"" []	Orphanet:99012	"" []	580990	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	Autosomal recessive optic atrophy, OPA6 type
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:99012	"" []	1165000	\N	\N	EFO	3	EFO	Genetic optic atrophy	Autosomal recessive optic atrophy, OPA6 type
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:99012	"" []	2048953	\N	\N	EFO	4	EFO	Optic neuropathy	Autosomal recessive optic atrophy, OPA6 type
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:99012	"" []	3199037	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive optic atrophy, OPA6 type
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99012	"" []	4404312	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive optic atrophy, OPA6 type
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99012	"" []	4404313	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive optic atrophy, OPA6 type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99012	"" []	5419960	\N	\N	EFO	7	EFO	disease	Autosomal recessive optic atrophy, OPA6 type
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99012	"" []	5419961	\N	\N	EFO	7	EFO	disease	Autosomal recessive optic atrophy, OPA6 type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99012	"" []	6154002	\N	\N	EFO	8	EFO	disposition	Autosomal recessive optic atrophy, OPA6 type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99012	"" []	6634717	\N	\N	EFO	9	EFO	material property	Autosomal recessive optic atrophy, OPA6 type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99012	"" []	6926439	\N	\N	EFO	10	EFO	experimental factor	Autosomal recessive optic atrophy, OPA6 type
Orphanet:99013	\N	\N	"" []	Orphanet:99013	"" []	79176	\N	\N	EFO	0	EFO	Autosomal recessive spastic paraplegia type 7	Autosomal recessive spastic paraplegia type 7
Orphanet:320346	Orphanet:99013	\N	"" []	Orphanet:99013	"" []	224203	\N	\N	EFO	1	EFO	Pure or complex autosomal recessive spastic paraplegia	Autosomal recessive spastic paraplegia type 7
Orphanet:35696	Orphanet:99013	\N	"" []	Orphanet:99013	"" []	224204	\N	\N	EFO	1	EFO	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Autosomal recessive spastic paraplegia type 7
Orphanet:98677	Orphanet:99013	\N	"" []	Orphanet:99013	"" []	224205	\N	\N	EFO	1	EFO	Autosomal recessive syndromic optic atrophy	Autosomal recessive spastic paraplegia type 7
Orphanet:320335	Orphanet:320346	\N	"" []	Orphanet:99013	"" []	580991	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 7
Orphanet:2443	Orphanet:35696	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:99013	"" []	580992	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Autosomal recessive spastic paraplegia type 7
Orphanet:98675	Orphanet:98677	\N	"" []	Orphanet:99013	"" []	580993	\N	\N	EFO	2	EFO	Autosomal recessive optic atrophy	Autosomal recessive spastic paraplegia type 7
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:99013	"" []	1165001	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Autosomal recessive spastic paraplegia type 7
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:99013	"" []	1165002	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Autosomal recessive spastic paraplegia type 7
Orphanet:103	Orphanet:98675	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:99013	"" []	1165003	\N	\N	EFO	3	EFO	Genetic optic atrophy	Autosomal recessive spastic paraplegia type 7
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:99013	"" []	2048954	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Autosomal recessive spastic paraplegia type 7
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:99013	"" []	2048955	\N	\N	EFO	4	EFO	Mitochondrial disease	Autosomal recessive spastic paraplegia type 7
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:99013	"" []	2048956	\N	\N	EFO	4	EFO	Optic neuropathy	Autosomal recessive spastic paraplegia type 7
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99013	"" []	3199038	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal recessive spastic paraplegia type 7
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:99013	"" []	3199039	\N	\N	EFO	5	EFO	brain disease	Autosomal recessive spastic paraplegia type 7
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:99013	"" []	3199040	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal recessive spastic paraplegia type 7
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:99013	"" []	3199041	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Autosomal recessive spastic paraplegia type 7
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:99013	"" []	3199042	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Autosomal recessive spastic paraplegia type 7
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:99013	"" []	3199043	\N	\N	EFO	5	EFO	Rare genetic eye disease	Autosomal recessive spastic paraplegia type 7
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99013	"" []	4404314	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 7
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99013	"" []	4404315	\N	\N	EFO	6	EFO	nervous system disease	Autosomal recessive spastic paraplegia type 7
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99013	"" []	4404316	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 7
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:99013	"" []	4404317	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Autosomal recessive spastic paraplegia type 7
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:99013	"" []	4404318	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Autosomal recessive spastic paraplegia type 7
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99013	"" []	4404319	\N	\N	EFO	6	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 7
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99013	"" []	4404320	\N	\N	EFO	6	EFO	eye disease	Autosomal recessive spastic paraplegia type 7
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99013	"" []	5419962	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 7
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99013	"" []	6154004	\N	\N	EFO	8	EFO	disease	Autosomal recessive spastic paraplegia type 7
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99013	"" []	5419964	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 7
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99013	"" []	5419965	\N	\N	EFO	7	EFO	genetic disorder	Autosomal recessive spastic paraplegia type 7
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99013	"" []	5419966	\N	\N	EFO	7	EFO	metabolic disease	Autosomal recessive spastic paraplegia type 7
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99013	"" []	5419967	\N	\N	EFO	7	EFO	disease	Autosomal recessive spastic paraplegia type 7
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99013	"" []	6552080	\N	\N	EFO	9	EFO	disposition	Autosomal recessive spastic paraplegia type 7
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99013	"" []	6154005	\N	\N	EFO	8	EFO	disease	Autosomal recessive spastic paraplegia type 7
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99013	"" []	6889670	\N	\N	EFO	10	EFO	material property	Autosomal recessive spastic paraplegia type 7
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99013	"" []	7086095	\N	\N	EFO	11	EFO	experimental factor	Autosomal recessive spastic paraplegia type 7
Orphanet:99014	\N	\N	"" []	Orphanet:99014	"" []	79177	\N	\N	EFO	0	EFO	X-linked Charcot-Marie-Tooth disease type 5	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:140462	Orphanet:99014	\N	"" []	Orphanet:99014	"" []	224206	\N	\N	EFO	1	EFO	X-linked recessive hereditary axonal motor and sensory neuropathy	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:64747	Orphanet:99014	\N	"" []	Orphanet:99014	"" []	224207	\N	\N	EFO	1	EFO	X-linked Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:79191	Orphanet:99014	\N	"" []	Orphanet:99014	"" []	224208	\N	\N	EFO	1	EFO	Disorder of purine metabolism	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:98678	Orphanet:99014	\N	"" []	Orphanet:99014	"" []	224209	\N	\N	EFO	1	EFO	X-linked recessive optic atrophy	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:140450	Orphanet:140462	\N	"" []	Orphanet:99014	"" []	580994	\N	\N	EFO	2	EFO	Hereditary motor and sensory neuropathy	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:166	Orphanet:64747	\N	"" []	Orphanet:99014	"" []	580995	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:90642	Orphanet:64747	\N	"" []	Orphanet:99014	"" []	580996	\N	\N	EFO	2	EFO	Syndromic genetic deafness	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:98464	Orphanet:64747	\N	"" []	Orphanet:99014	"" []	580997	\N	\N	EFO	2	EFO	X-linked syndromic intellectual disability	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:99014	"" []	580998	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:103	Orphanet:98678	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:99014	"" []	580999	\N	\N	EFO	2	EFO	Genetic optic atrophy	X-linked Charcot-Marie-Tooth disease type 5
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99014	"" []	1165004	\N	\N	EFO	3	EFO	motor neuron disease	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99014	"" []	1165005	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99014	"" []	1165006	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:99014	"" []	1165007	\N	\N	EFO	3	EFO	Rare genetic deafness	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:183763	Orphanet:98464	\N	"" []	Orphanet:99014	"" []	1165008	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:99014	"" []	1165009	\N	\N	EFO	3	EFO	Inborn errors of metabolism	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:99014	"" []	1165010	\N	\N	EFO	3	EFO	Optic neuropathy	X-linked Charcot-Marie-Tooth disease type 5
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99014	"" []	2048957	\N	\N	EFO	4	EFO	neurodegenerative disease	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99014	"" []	2048958	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease type 5
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99014	"" []	2048959	\N	\N	EFO	4	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 5
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:99014	"" []	2048960	\N	\N	EFO	4	EFO	auditory system disease	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:99014	"" []	2048961	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	X-linked Charcot-Marie-Tooth disease type 5
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99014	"" []	2048962	\N	\N	EFO	4	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 5
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99014	"" []	2048963	\N	\N	EFO	4	EFO	metabolic disease	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:99014	"" []	2048964	\N	\N	EFO	4	EFO	Rare genetic eye disease	X-linked Charcot-Marie-Tooth disease type 5
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99014	"" []	3199044	\N	\N	EFO	5	EFO	nervous system disease	X-linked Charcot-Marie-Tooth disease type 5
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99014	"" []	4404325	\N	\N	EFO	6	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 5
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99014	"" []	5183810	\N	\N	EFO	7	EFO	disease	X-linked Charcot-Marie-Tooth disease type 5
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:99014	"" []	3199047	\N	\N	EFO	5	EFO	sensory system disease	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:99014	"" []	3199048	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	X-linked Charcot-Marie-Tooth disease type 5
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99014	"" []	3199049	\N	\N	EFO	5	EFO	disease	X-linked Charcot-Marie-Tooth disease type 5
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99014	"" []	3199050	\N	\N	EFO	5	EFO	genetic disorder	X-linked Charcot-Marie-Tooth disease type 5
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99014	"" []	3199051	\N	\N	EFO	5	EFO	eye disease	X-linked Charcot-Marie-Tooth disease type 5
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99014	"" []	5419969	\N	\N	EFO	7	EFO	disease	X-linked Charcot-Marie-Tooth disease type 5
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99014	"" []	5877946	\N	\N	EFO	8	EFO	disposition	X-linked Charcot-Marie-Tooth disease type 5
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99014	"" []	4404324	\N	\N	EFO	6	EFO	nervous system disease	X-linked Charcot-Marie-Tooth disease type 5
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99014	"" []	4404326	\N	\N	EFO	6	EFO	disease	X-linked Charcot-Marie-Tooth disease type 5
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99014	"" []	6471173	\N	\N	EFO	9	EFO	material property	X-linked Charcot-Marie-Tooth disease type 5
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99014	"" []	6848959	\N	\N	EFO	10	EFO	experimental factor	X-linked Charcot-Marie-Tooth disease type 5
Orphanet:99015	\N	\N	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	79178	\N	\N	EFO	0	EFO	Spastic paraplegia type 2	Spastic paraplegia type 2
Orphanet:320350	Orphanet:99015	\N	"" []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	224210	\N	\N	EFO	1	EFO	Pure or complex X-linked spastic paraplegia	Spastic paraplegia type 2
Orphanet:68356	Orphanet:99015	\N	"" []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	224211	\N	\N	EFO	1	EFO	Leukodystrophy	Spastic paraplegia type 2
Orphanet:98678	Orphanet:99015	\N	"" []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	224212	\N	\N	EFO	1	EFO	X-linked recessive optic atrophy	Spastic paraplegia type 2
Orphanet:320335	Orphanet:320350	\N	"" []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	581000	\N	\N	EFO	2	EFO	Pure or complex hereditary spastic paraplegia	Spastic paraplegia type 2
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	581001	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Spastic paraplegia type 2
Orphanet:103	Orphanet:98678	\N	"Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	581002	\N	\N	EFO	2	EFO	Genetic optic atrophy	Spastic paraplegia type 2
Orphanet:685	Orphanet:320335	\N	"" []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	1165011	\N	\N	EFO	3	EFO	Hereditary spastic paraplegia	Spastic paraplegia type 2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	4404329	\N	\N	EFO	6	EFO	genetic disorder	Spastic paraplegia type 2
Orphanet:98671	Orphanet:103	\N	"" []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	1165013	\N	\N	EFO	3	EFO	Optic neuropathy	Spastic paraplegia type 2
Orphanet:183500	Orphanet:685	\N	"" []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	2048965	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Spastic paraplegia type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	5028499	\N	\N	EFO	7	EFO	disease	Spastic paraplegia type 2
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	2048967	\N	\N	EFO	4	EFO	Rare genetic eye disease	Spastic paraplegia type 2
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	3199052	\N	\N	EFO	5	EFO	neurodegenerative disease	Spastic paraplegia type 2
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	3199053	\N	\N	EFO	5	EFO	brain disease	Spastic paraplegia type 2
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	3199054	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Spastic paraplegia type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	5817942	\N	\N	EFO	8	EFO	disposition	Spastic paraplegia type 2
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	3199056	\N	\N	EFO	5	EFO	genetic disorder	Spastic paraplegia type 2
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	3199057	\N	\N	EFO	5	EFO	eye disease	Spastic paraplegia type 2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	4404327	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia type 2
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	4404328	\N	\N	EFO	6	EFO	nervous system disease	Spastic paraplegia type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	6410484	\N	\N	EFO	9	EFO	material property	Spastic paraplegia type 2
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	4404332	\N	\N	EFO	6	EFO	disease	Spastic paraplegia type 2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	5419970	\N	\N	EFO	7	EFO	disease	Spastic paraplegia type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99015	"Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." []	6808283	\N	\N	EFO	10	EFO	experimental factor	Spastic paraplegia type 2
Orphanet:99022	\N	\N	"" []	Orphanet:99022	"" []	79179	\N	\N	EFO	0	EFO	Niemann-Pick disease type E	Niemann-Pick disease type E
EFO:1001380	Orphanet:99022	\N	"The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage." []	Orphanet:99022	"" []	224213	\N	\N	EFO	1	EFO	Niemann-Pick disease	Niemann-Pick disease type E
Orphanet:79225	Orphanet:99022	\N	"A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign." []	Orphanet:99022	"" []	224214	\N	\N	EFO	1	EFO	Sphingolipidosis	Niemann-Pick disease type E
EFO:0000616	EFO:1001380	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:99022	"" []	581003	\N	\N	EFO	2	EFO	neoplasm	Niemann-Pick disease type E
Orphanet:68366	Orphanet:79225	\N	"" []	Orphanet:99022	"" []	581004	\N	\N	EFO	2	EFO	Lysosomal disease	Niemann-Pick disease type E
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99022	"" []	1165014	\N	\N	EFO	3	EFO	disease	Niemann-Pick disease type E
Orphanet:68367	Orphanet:68366	\N	"" []	Orphanet:99022	"" []	1165015	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Niemann-Pick disease type E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99022	"" []	4404334	\N	\N	EFO	6	EFO	disposition	Niemann-Pick disease type E
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99022	"" []	2048969	\N	\N	EFO	4	EFO	genetic disorder	Niemann-Pick disease type E
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99022	"" []	2048970	\N	\N	EFO	4	EFO	metabolic disease	Niemann-Pick disease type E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99022	"" []	5060371	\N	\N	EFO	7	EFO	material property	Niemann-Pick disease type E
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99022	"" []	3199059	\N	\N	EFO	5	EFO	disease	Niemann-Pick disease type E
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99022	"" []	3199060	\N	\N	EFO	5	EFO	disease	Niemann-Pick disease type E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99022	"" []	5877948	\N	\N	EFO	8	EFO	experimental factor	Niemann-Pick disease type E
Orphanet:99027	\N	\N	"" []	Orphanet:99027	"" []	79180	\N	\N	EFO	0	EFO	Adult-onset autosomal dominant leukodystrophy	Adult-onset autosomal dominant leukodystrophy
Orphanet:262869	Orphanet:99027	\N	"" []	Orphanet:99027	"" []	224215	\N	\N	EFO	1	EFO	Partial trisomy of the long arm of chromosome 5	Adult-onset autosomal dominant leukodystrophy
Orphanet:68356	Orphanet:99027	\N	"" []	Orphanet:99027	"" []	224216	\N	\N	EFO	1	EFO	Leukodystrophy	Adult-onset autosomal dominant leukodystrophy
Orphanet:98691	Orphanet:99027	\N	"" []	Orphanet:99027	"" []	224217	\N	\N	EFO	1	EFO	Abnormal eye movements	Adult-onset autosomal dominant leukodystrophy
Orphanet:262211	Orphanet:262869	\N	"" []	Orphanet:99027	"" []	581005	\N	\N	EFO	2	EFO	Partial trisomy/tetrasomy of chromosome 5	Adult-onset autosomal dominant leukodystrophy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:99027	"" []	581006	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	Adult-onset autosomal dominant leukodystrophy
Orphanet:183616	Orphanet:98691	\N	"" []	Orphanet:99027	"" []	581007	\N	\N	EFO	2	EFO	Genetic neuro-ophthalmological disease	Adult-onset autosomal dominant leukodystrophy
Orphanet:98132	Orphanet:262211	\N	"" []	Orphanet:99027	"" []	1165016	\N	\N	EFO	3	EFO	Partial autosomal trisomy/tetrasomy	Adult-onset autosomal dominant leukodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99027	"" []	1165017	\N	\N	EFO	3	EFO	genetic disorder	Adult-onset autosomal dominant leukodystrophy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:99027	"" []	1165018	\N	\N	EFO	3	EFO	Rare genetic eye disease	Adult-onset autosomal dominant leukodystrophy
Orphanet:98130	Orphanet:98132	\N	"" []	Orphanet:99027	"" []	2048971	\N	\N	EFO	4	EFO	Autosomal trisomy	Adult-onset autosomal dominant leukodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99027	"" []	6154007	\N	\N	EFO	8	EFO	disease	Adult-onset autosomal dominant leukodystrophy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99027	"" []	2048973	\N	\N	EFO	4	EFO	genetic disorder	Adult-onset autosomal dominant leukodystrophy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99027	"" []	2048974	\N	\N	EFO	4	EFO	eye disease	Adult-onset autosomal dominant leukodystrophy
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:99027	"" []	3199061	\N	\N	EFO	5	EFO	Autosomal anomaly	Adult-onset autosomal dominant leukodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99027	"" []	6379035	\N	\N	EFO	9	EFO	disposition	Adult-onset autosomal dominant leukodystrophy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99027	"" []	3199064	\N	\N	EFO	5	EFO	disease	Adult-onset autosomal dominant leukodystrophy
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:99027	"" []	4404335	\N	\N	EFO	6	EFO	Chromosomal anomaly	Adult-onset autosomal dominant leukodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99027	"" []	6778873	\N	\N	EFO	10	EFO	material property	Adult-onset autosomal dominant leukodystrophy
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99027	"" []	5419972	\N	\N	EFO	7	EFO	genetic disorder	Adult-onset autosomal dominant leukodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99027	"" []	7030059	\N	\N	EFO	11	EFO	experimental factor	Adult-onset autosomal dominant leukodystrophy
Orphanet:99042	\N	\N	"" []	Orphanet:99042	"" []	79181	\N	\N	EFO	0	EFO	Congenitally uncorrected transposition of the great arteries with coarctation	Congenitally uncorrected transposition of the great arteries with coarctation
Orphanet:860	Orphanet:99042	\N	"" []	Orphanet:99042	"" []	224218	\N	\N	EFO	1	EFO	Congenitally uncorrected transposition of the great arteries	Congenitally uncorrected transposition of the great arteries with coarctation
Orphanet:271853	Orphanet:860	\N	"" []	Orphanet:99042	"" []	581008	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Congenitally uncorrected transposition of the great arteries with coarctation
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99042	"" []	1165019	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Congenitally uncorrected transposition of the great arteries with coarctation
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99042	"" []	2048975	\N	\N	EFO	4	EFO	genetic disorder	Congenitally uncorrected transposition of the great arteries with coarctation
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99042	"" []	3199065	\N	\N	EFO	5	EFO	disease	Congenitally uncorrected transposition of the great arteries with coarctation
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99042	"" []	4404337	\N	\N	EFO	6	EFO	disposition	Congenitally uncorrected transposition of the great arteries with coarctation
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99042	"" []	5419974	\N	\N	EFO	7	EFO	material property	Congenitally uncorrected transposition of the great arteries with coarctation
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99042	"" []	6154008	\N	\N	EFO	8	EFO	experimental factor	Congenitally uncorrected transposition of the great arteries with coarctation
Orphanet:99043	\N	\N	"" []	Orphanet:99043	"" []	79182	\N	\N	EFO	0	EFO	Double outlet right ventricle, Fallot type	Double outlet right ventricle, Fallot type
Orphanet:3426	Orphanet:99043	\N	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	Orphanet:99043	"" []	224219	\N	\N	EFO	1	EFO	Double outlet right ventricle	Double outlet right ventricle, Fallot type
Orphanet:271853	Orphanet:3426	\N	"" []	Orphanet:99043	"" []	581009	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Double outlet right ventricle, Fallot type
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99043	"" []	1165020	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Double outlet right ventricle, Fallot type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99043	"" []	2048976	\N	\N	EFO	4	EFO	genetic disorder	Double outlet right ventricle, Fallot type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99043	"" []	3199066	\N	\N	EFO	5	EFO	disease	Double outlet right ventricle, Fallot type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99043	"" []	4404338	\N	\N	EFO	6	EFO	disposition	Double outlet right ventricle, Fallot type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99043	"" []	5419975	\N	\N	EFO	7	EFO	material property	Double outlet right ventricle, Fallot type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99043	"" []	6154009	\N	\N	EFO	8	EFO	experimental factor	Double outlet right ventricle, Fallot type
Orphanet:99044	\N	\N	"" []	Orphanet:99044	"" []	79183	\N	\N	EFO	0	EFO	Double outlet right ventricle with subaortic ventricular septal defect	Double outlet right ventricle with subaortic ventricular septal defect
Orphanet:3426	Orphanet:99044	\N	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	Orphanet:99044	"" []	224220	\N	\N	EFO	1	EFO	Double outlet right ventricle	Double outlet right ventricle with subaortic ventricular septal defect
Orphanet:271853	Orphanet:3426	\N	"" []	Orphanet:99044	"" []	581010	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Double outlet right ventricle with subaortic ventricular septal defect
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99044	"" []	1165021	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Double outlet right ventricle with subaortic ventricular septal defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99044	"" []	2048977	\N	\N	EFO	4	EFO	genetic disorder	Double outlet right ventricle with subaortic ventricular septal defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99044	"" []	3199067	\N	\N	EFO	5	EFO	disease	Double outlet right ventricle with subaortic ventricular septal defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99044	"" []	4404339	\N	\N	EFO	6	EFO	disposition	Double outlet right ventricle with subaortic ventricular septal defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99044	"" []	5419976	\N	\N	EFO	7	EFO	material property	Double outlet right ventricle with subaortic ventricular septal defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99044	"" []	6154010	\N	\N	EFO	8	EFO	experimental factor	Double outlet right ventricle with subaortic ventricular septal defect
Orphanet:99045	\N	\N	"" []	Orphanet:99045	"" []	79184	\N	\N	EFO	0	EFO	Double outlet right ventricle with subpulmonary ventricular septal defect	Double outlet right ventricle with subpulmonary ventricular septal defect
Orphanet:3426	Orphanet:99045	\N	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	Orphanet:99045	"" []	224221	\N	\N	EFO	1	EFO	Double outlet right ventricle	Double outlet right ventricle with subpulmonary ventricular septal defect
Orphanet:271853	Orphanet:3426	\N	"" []	Orphanet:99045	"" []	581011	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Double outlet right ventricle with subpulmonary ventricular septal defect
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99045	"" []	1165022	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Double outlet right ventricle with subpulmonary ventricular septal defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99045	"" []	2048978	\N	\N	EFO	4	EFO	genetic disorder	Double outlet right ventricle with subpulmonary ventricular septal defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99045	"" []	3199068	\N	\N	EFO	5	EFO	disease	Double outlet right ventricle with subpulmonary ventricular septal defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99045	"" []	4404340	\N	\N	EFO	6	EFO	disposition	Double outlet right ventricle with subpulmonary ventricular septal defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99045	"" []	5419977	\N	\N	EFO	7	EFO	material property	Double outlet right ventricle with subpulmonary ventricular septal defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99045	"" []	6154011	\N	\N	EFO	8	EFO	experimental factor	Double outlet right ventricle with subpulmonary ventricular septal defect
Orphanet:99046	\N	\N	"" []	Orphanet:99046	"" []	79185	\N	\N	EFO	0	EFO	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Orphanet:3426	Orphanet:99046	\N	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	Orphanet:99046	"" []	224222	\N	\N	EFO	1	EFO	Double outlet right ventricle	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Orphanet:271853	Orphanet:3426	\N	"" []	Orphanet:99046	"" []	581012	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99046	"" []	1165023	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99046	"" []	2048979	\N	\N	EFO	4	EFO	genetic disorder	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99046	"" []	3199069	\N	\N	EFO	5	EFO	disease	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99046	"" []	4404341	\N	\N	EFO	6	EFO	disposition	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99046	"" []	5419978	\N	\N	EFO	7	EFO	material property	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99046	"" []	6154012	\N	\N	EFO	8	EFO	experimental factor	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Orphanet:99047	\N	\N	"" []	Orphanet:99047	"" []	79186	\N	\N	EFO	0	EFO	Double outlet right ventricle with doubly committed ventricular septal defect	Double outlet right ventricle with doubly committed ventricular septal defect
Orphanet:3426	Orphanet:99047	\N	"Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." []	Orphanet:99047	"" []	224223	\N	\N	EFO	1	EFO	Double outlet right ventricle	Double outlet right ventricle with doubly committed ventricular septal defect
Orphanet:271853	Orphanet:3426	\N	"" []	Orphanet:99047	"" []	581013	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Double outlet right ventricle with doubly committed ventricular septal defect
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99047	"" []	1165024	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Double outlet right ventricle with doubly committed ventricular septal defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99047	"" []	2048980	\N	\N	EFO	4	EFO	genetic disorder	Double outlet right ventricle with doubly committed ventricular septal defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99047	"" []	3199070	\N	\N	EFO	5	EFO	disease	Double outlet right ventricle with doubly committed ventricular septal defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99047	"" []	4404342	\N	\N	EFO	6	EFO	disposition	Double outlet right ventricle with doubly committed ventricular septal defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99047	"" []	5419979	\N	\N	EFO	7	EFO	material property	Double outlet right ventricle with doubly committed ventricular septal defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99047	"" []	6154013	\N	\N	EFO	8	EFO	experimental factor	Double outlet right ventricle with doubly committed ventricular septal defect
Orphanet:99092	\N	\N	"" []	Orphanet:99092	"" []	79187	\N	\N	EFO	0	EFO	Interventricular septum aneurysm	Interventricular septum aneurysm
Orphanet:1480	Orphanet:99092	\N	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	Orphanet:99092	"" []	224224	\N	\N	EFO	1	EFO	Ventricular septal defect	Interventricular septum aneurysm
EFO:0003777	Orphanet:1480	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:99092	"" []	581014	\N	\N	EFO	2	EFO	heart disease	Interventricular septum aneurysm
Orphanet:271853	Orphanet:1480	\N	"" []	Orphanet:99092	"" []	581015	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Interventricular septum aneurysm
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:99092	"" []	1165025	\N	\N	EFO	3	EFO	cardiovascular disease	Interventricular septum aneurysm
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99092	"" []	1165026	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Interventricular septum aneurysm
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99092	"" []	2048981	\N	\N	EFO	4	EFO	disease	Interventricular septum aneurysm
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99092	"" []	2048982	\N	\N	EFO	4	EFO	genetic disorder	Interventricular septum aneurysm
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99092	"" []	4404344	\N	\N	EFO	6	EFO	disposition	Interventricular septum aneurysm
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99092	"" []	3199072	\N	\N	EFO	5	EFO	disease	Interventricular septum aneurysm
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99092	"" []	5183813	\N	\N	EFO	7	EFO	material property	Interventricular septum aneurysm
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99092	"" []	5999122	\N	\N	EFO	8	EFO	experimental factor	Interventricular septum aneurysm
Orphanet:99094	\N	\N	"" []	Orphanet:99094	"" []	79188	\N	\N	EFO	0	EFO	Laubry-Pezzi syndrome	Laubry-Pezzi syndrome
Orphanet:1480	Orphanet:99094	\N	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	Orphanet:99094	"" []	224225	\N	\N	EFO	1	EFO	Ventricular septal defect	Laubry-Pezzi syndrome
EFO:0003777	Orphanet:1480	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:99094	"" []	581016	\N	\N	EFO	2	EFO	heart disease	Laubry-Pezzi syndrome
Orphanet:271853	Orphanet:1480	\N	"" []	Orphanet:99094	"" []	581017	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Laubry-Pezzi syndrome
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:99094	"" []	1165027	\N	\N	EFO	3	EFO	cardiovascular disease	Laubry-Pezzi syndrome
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99094	"" []	1165028	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Laubry-Pezzi syndrome
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99094	"" []	2048983	\N	\N	EFO	4	EFO	disease	Laubry-Pezzi syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99094	"" []	2048984	\N	\N	EFO	4	EFO	genetic disorder	Laubry-Pezzi syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99094	"" []	4404346	\N	\N	EFO	6	EFO	disposition	Laubry-Pezzi syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99094	"" []	3199074	\N	\N	EFO	5	EFO	disease	Laubry-Pezzi syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99094	"" []	5183814	\N	\N	EFO	7	EFO	material property	Laubry-Pezzi syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99094	"" []	5999123	\N	\N	EFO	8	EFO	experimental factor	Laubry-Pezzi syndrome
Orphanet:99095	\N	\N	"" []	Orphanet:99095	"" []	79189	\N	\N	EFO	0	EFO	Gerbode defect	Gerbode defect
Orphanet:1480	Orphanet:99095	\N	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	Orphanet:99095	"" []	224226	\N	\N	EFO	1	EFO	Ventricular septal defect	Gerbode defect
EFO:0003777	Orphanet:1480	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:99095	"" []	581018	\N	\N	EFO	2	EFO	heart disease	Gerbode defect
Orphanet:271853	Orphanet:1480	\N	"" []	Orphanet:99095	"" []	581019	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Gerbode defect
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:99095	"" []	1165029	\N	\N	EFO	3	EFO	cardiovascular disease	Gerbode defect
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99095	"" []	1165030	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Gerbode defect
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99095	"" []	2048985	\N	\N	EFO	4	EFO	disease	Gerbode defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99095	"" []	2048986	\N	\N	EFO	4	EFO	genetic disorder	Gerbode defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99095	"" []	4404348	\N	\N	EFO	6	EFO	disposition	Gerbode defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99095	"" []	3199076	\N	\N	EFO	5	EFO	disease	Gerbode defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99095	"" []	5183815	\N	\N	EFO	7	EFO	material property	Gerbode defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99095	"" []	5999124	\N	\N	EFO	8	EFO	experimental factor	Gerbode defect
Orphanet:99096	\N	\N	"" []	Orphanet:99096	"" []	79190	\N	\N	EFO	0	EFO	Multiple ventricular septal defects	Multiple ventricular septal defects
Orphanet:1480	Orphanet:99096	\N	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	Orphanet:99096	"" []	224227	\N	\N	EFO	1	EFO	Ventricular septal defect	Multiple ventricular septal defects
EFO:0003777	Orphanet:1480	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:99096	"" []	581020	\N	\N	EFO	2	EFO	heart disease	Multiple ventricular septal defects
Orphanet:271853	Orphanet:1480	\N	"" []	Orphanet:99096	"" []	581021	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Multiple ventricular septal defects
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:99096	"" []	1165031	\N	\N	EFO	3	EFO	cardiovascular disease	Multiple ventricular septal defects
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99096	"" []	1165032	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Multiple ventricular septal defects
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99096	"" []	2048987	\N	\N	EFO	4	EFO	disease	Multiple ventricular septal defects
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99096	"" []	2048988	\N	\N	EFO	4	EFO	genetic disorder	Multiple ventricular septal defects
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99096	"" []	4404350	\N	\N	EFO	6	EFO	disposition	Multiple ventricular septal defects
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99096	"" []	3199078	\N	\N	EFO	5	EFO	disease	Multiple ventricular septal defects
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99096	"" []	5183816	\N	\N	EFO	7	EFO	material property	Multiple ventricular septal defects
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99096	"" []	5999125	\N	\N	EFO	8	EFO	experimental factor	Multiple ventricular septal defects
Orphanet:99097	\N	\N	"" []	Orphanet:99097	"" []	79191	\N	\N	EFO	0	EFO	Single ventricular septal defect	Single ventricular septal defect
Orphanet:1480	Orphanet:99097	\N	"A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." []	Orphanet:99097	"" []	224228	\N	\N	EFO	1	EFO	Ventricular septal defect	Single ventricular septal defect
EFO:0003777	Orphanet:1480	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:99097	"" []	581022	\N	\N	EFO	2	EFO	heart disease	Single ventricular septal defect
Orphanet:271853	Orphanet:1480	\N	"" []	Orphanet:99097	"" []	581023	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Single ventricular septal defect
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:99097	"" []	1165033	\N	\N	EFO	3	EFO	cardiovascular disease	Single ventricular septal defect
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99097	"" []	1165034	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Single ventricular septal defect
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99097	"" []	2048989	\N	\N	EFO	4	EFO	disease	Single ventricular septal defect
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99097	"" []	2048990	\N	\N	EFO	4	EFO	genetic disorder	Single ventricular septal defect
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99097	"" []	4404352	\N	\N	EFO	6	EFO	disposition	Single ventricular septal defect
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99097	"" []	3199080	\N	\N	EFO	5	EFO	disease	Single ventricular septal defect
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99097	"" []	5183817	\N	\N	EFO	7	EFO	material property	Single ventricular septal defect
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99097	"" []	5999126	\N	\N	EFO	8	EFO	experimental factor	Single ventricular septal defect
Orphanet:991	\N	\N	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	79192	\N	\N	EFO	0	EFO	PAGOD syndrome	PAGOD syndrome
Orphanet:325109	Orphanet:991	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	224229	\N	\N	EFO	1	EFO	Syndrome with 46,XX disorder of sex development	PAGOD syndrome
Orphanet:325638	Orphanet:991	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	224230	\N	\N	EFO	1	EFO	Syndrome with disorder of sex development of gynecological interest	PAGOD syndrome
Orphanet:330206	Orphanet:991	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	224231	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	PAGOD syndrome
Orphanet:98087	Orphanet:991	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	224232	\N	\N	EFO	1	EFO	Syndrome with 46,XY disorder of sex development	PAGOD syndrome
Orphanet:325697	Orphanet:325109	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	581024	\N	\N	EFO	2	EFO	Genetic 46,XX disorder of sex development	PAGOD syndrome
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	581025	\N	\N	EFO	2	EFO	Genetic disorder of sex development of gynecological interest	PAGOD syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	581026	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	PAGOD syndrome
Orphanet:325706	Orphanet:98087	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	581027	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development	PAGOD syndrome
Orphanet:325690	Orphanet:325697	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	1165035	\N	\N	EFO	3	EFO	Genetic disorder of sex development	PAGOD syndrome
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	1165036	\N	\N	EFO	3	EFO	Rare genetic gynecological and obstetrical diseases	PAGOD syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	1165037	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	PAGOD syndrome
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	1165038	\N	\N	EFO	3	EFO	Genetic disorder of sex development	PAGOD syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	2048991	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	PAGOD syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	2048992	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	PAGOD syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	2048993	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	PAGOD syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	2048994	\N	\N	EFO	4	EFO	genetic disorder	PAGOD syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	2048995	\N	\N	EFO	4	EFO	reproductive system disease	PAGOD syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	3199084	\N	\N	EFO	5	EFO	genetic disorder	PAGOD syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	3199081	\N	\N	EFO	5	EFO	genetic disorder	PAGOD syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	3199082	\N	\N	EFO	5	EFO	genetic disorder	PAGOD syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	3199083	\N	\N	EFO	5	EFO	endocrine system disease	PAGOD syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	4134589	\N	\N	EFO	6	EFO	disease	PAGOD syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	3199086	\N	\N	EFO	5	EFO	disease	PAGOD syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	4404353	\N	\N	EFO	6	EFO	disease	PAGOD syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	5183818	\N	\N	EFO	7	EFO	disposition	PAGOD syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	5999127	\N	\N	EFO	8	EFO	material property	PAGOD syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:991	"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." []	6552082	\N	\N	EFO	9	EFO	experimental factor	PAGOD syndrome
Orphanet:99103	\N	\N	"" []	Orphanet:99103	"" []	79193	\N	\N	EFO	0	EFO	Atrial septal defect, ostium secundum type	Atrial septal defect, ostium secundum type
Orphanet:1478	Orphanet:99103	\N	"" []	Orphanet:99103	"" []	224233	\N	\N	EFO	1	EFO	Interauricular communication	Atrial septal defect, ostium secundum type
Orphanet:271853	Orphanet:1478	\N	"" []	Orphanet:99103	"" []	581028	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Atrial septal defect, ostium secundum type
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99103	"" []	1165039	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Atrial septal defect, ostium secundum type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99103	"" []	2048997	\N	\N	EFO	4	EFO	genetic disorder	Atrial septal defect, ostium secundum type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99103	"" []	3199087	\N	\N	EFO	5	EFO	disease	Atrial septal defect, ostium secundum type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99103	"" []	4404355	\N	\N	EFO	6	EFO	disposition	Atrial septal defect, ostium secundum type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99103	"" []	5419986	\N	\N	EFO	7	EFO	material property	Atrial septal defect, ostium secundum type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99103	"" []	6154015	\N	\N	EFO	8	EFO	experimental factor	Atrial septal defect, ostium secundum type
Orphanet:99104	\N	\N	"" []	Orphanet:99104	"" []	79194	\N	\N	EFO	0	EFO	Atrial septal defect, coronary sinus type	Atrial septal defect, coronary sinus type
Orphanet:1478	Orphanet:99104	\N	"" []	Orphanet:99104	"" []	224234	\N	\N	EFO	1	EFO	Interauricular communication	Atrial septal defect, coronary sinus type
Orphanet:271853	Orphanet:1478	\N	"" []	Orphanet:99104	"" []	581029	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Atrial septal defect, coronary sinus type
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99104	"" []	1165040	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Atrial septal defect, coronary sinus type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99104	"" []	2048998	\N	\N	EFO	4	EFO	genetic disorder	Atrial septal defect, coronary sinus type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99104	"" []	3199088	\N	\N	EFO	5	EFO	disease	Atrial septal defect, coronary sinus type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99104	"" []	4404356	\N	\N	EFO	6	EFO	disposition	Atrial septal defect, coronary sinus type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99104	"" []	5419987	\N	\N	EFO	7	EFO	material property	Atrial septal defect, coronary sinus type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99104	"" []	6154016	\N	\N	EFO	8	EFO	experimental factor	Atrial septal defect, coronary sinus type
Orphanet:99105	\N	\N	"" []	Orphanet:99105	"" []	79195	\N	\N	EFO	0	EFO	Atrial septal defect, sinus venosus type	Atrial septal defect, sinus venosus type
Orphanet:1478	Orphanet:99105	\N	"" []	Orphanet:99105	"" []	224235	\N	\N	EFO	1	EFO	Interauricular communication	Atrial septal defect, sinus venosus type
Orphanet:271853	Orphanet:1478	\N	"" []	Orphanet:99105	"" []	581030	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Atrial septal defect, sinus venosus type
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99105	"" []	1165041	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Atrial septal defect, sinus venosus type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99105	"" []	2048999	\N	\N	EFO	4	EFO	genetic disorder	Atrial septal defect, sinus venosus type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99105	"" []	3199089	\N	\N	EFO	5	EFO	disease	Atrial septal defect, sinus venosus type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99105	"" []	4404357	\N	\N	EFO	6	EFO	disposition	Atrial septal defect, sinus venosus type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99105	"" []	5419988	\N	\N	EFO	7	EFO	material property	Atrial septal defect, sinus venosus type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99105	"" []	6154017	\N	\N	EFO	8	EFO	experimental factor	Atrial septal defect, sinus venosus type
Orphanet:99106	\N	\N	"" []	Orphanet:99106	"" []	79196	\N	\N	EFO	0	EFO	Atrial septal defect, ostium primum type	Atrial septal defect, ostium primum type
Orphanet:1478	Orphanet:99106	\N	"" []	Orphanet:99106	"" []	224236	\N	\N	EFO	1	EFO	Interauricular communication	Atrial septal defect, ostium primum type
Orphanet:271853	Orphanet:1478	\N	"" []	Orphanet:99106	"" []	581031	\N	\N	EFO	2	EFO	Genetic cardiac anomaly	Atrial septal defect, ostium primum type
Orphanet:183530	Orphanet:271853	\N	"" []	Orphanet:99106	"" []	1165042	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Atrial septal defect, ostium primum type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99106	"" []	2049000	\N	\N	EFO	4	EFO	genetic disorder	Atrial septal defect, ostium primum type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99106	"" []	3199090	\N	\N	EFO	5	EFO	disease	Atrial septal defect, ostium primum type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99106	"" []	4404358	\N	\N	EFO	6	EFO	disposition	Atrial septal defect, ostium primum type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99106	"" []	5419989	\N	\N	EFO	7	EFO	material property	Atrial septal defect, ostium primum type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99106	"" []	6154018	\N	\N	EFO	8	EFO	experimental factor	Atrial septal defect, ostium primum type
Orphanet:99135	\N	\N	"" []	Orphanet:99135	"" []	79197	\N	\N	EFO	0	EFO	6-phosphogluconate dehydrogenase deficiency	6-phosphogluconate dehydrogenase deficiency
Orphanet:98370	Orphanet:99135	\N	"" []	Orphanet:99135	"" []	224237	\N	\N	EFO	1	EFO	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	6-phosphogluconate dehydrogenase deficiency
Orphanet:98369	Orphanet:98370	\N	"" []	Orphanet:99135	"" []	581032	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	6-phosphogluconate dehydrogenase deficiency
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:99135	"" []	1165043	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	6-phosphogluconate dehydrogenase deficiency
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:99135	"" []	2049001	\N	\N	EFO	4	EFO	Rare constitutional anemia	6-phosphogluconate dehydrogenase deficiency
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:99135	"" []	3199091	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	6-phosphogluconate dehydrogenase deficiency
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99135	"" []	4404359	\N	\N	EFO	6	EFO	genetic disorder	6-phosphogluconate dehydrogenase deficiency
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:99135	"" []	4404360	\N	\N	EFO	6	EFO	hematological system disease	6-phosphogluconate dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99135	"" []	5419990	\N	\N	EFO	7	EFO	disease	6-phosphogluconate dehydrogenase deficiency
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99135	"" []	5419991	\N	\N	EFO	7	EFO	disease	6-phosphogluconate dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99135	"" []	6154019	\N	\N	EFO	8	EFO	disposition	6-phosphogluconate dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99135	"" []	6634719	\N	\N	EFO	9	EFO	material property	6-phosphogluconate dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99135	"" []	6926441	\N	\N	EFO	10	EFO	experimental factor	6-phosphogluconate dehydrogenase deficiency
Orphanet:99138	\N	\N	"" []	Orphanet:99138	"" []	79198	\N	\N	EFO	0	EFO	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Orphanet:79191	Orphanet:99138	\N	"" []	Orphanet:99138	"" []	224238	\N	\N	EFO	1	EFO	Disorder of purine metabolism	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Orphanet:98374	Orphanet:99138	\N	"" []	Orphanet:99138	"" []	224239	\N	\N	EFO	1	EFO	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Orphanet:79224	Orphanet:79191	\N	"" []	Orphanet:99138	"" []	581033	\N	\N	EFO	2	EFO	Disorder of purine or pyrimidine metabolism	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Orphanet:98369	Orphanet:98374	\N	"" []	Orphanet:99138	"" []	581034	\N	\N	EFO	2	EFO	Rare constitutional hemolytic anemia due to an enzyme disorder	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Orphanet:68367	Orphanet:79224	\N	"" []	Orphanet:99138	"" []	1165044	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Orphanet:182043	Orphanet:98369	\N	"" []	Orphanet:99138	"" []	1165045	\N	\N	EFO	3	EFO	Rare constitutional hemolytic anemia	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99138	"" []	2049002	\N	\N	EFO	4	EFO	genetic disorder	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99138	"" []	2049003	\N	\N	EFO	4	EFO	metabolic disease	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Orphanet:183651	Orphanet:182043	\N	"" []	Orphanet:99138	"" []	2049004	\N	\N	EFO	4	EFO	Rare constitutional anemia	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99138	"" []	5419993	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99138	"" []	3199093	\N	\N	EFO	5	EFO	disease	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Orphanet:158300	Orphanet:183651	\N	"" []	Orphanet:99138	"" []	3199094	\N	\N	EFO	5	EFO	Rare genetic hematologic disease	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99138	"" []	5877949	\N	\N	EFO	8	EFO	disposition	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
EFO:0000508	Orphanet:158300	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99138	"" []	4404362	\N	\N	EFO	6	EFO	genetic disorder	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
EFO:0005803	Orphanet:158300	\N	"Disorders of the blood and blood forming tissues." []	Orphanet:99138	"" []	4404363	\N	\N	EFO	6	EFO	hematological system disease	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99138	"" []	6471175	\N	\N	EFO	9	EFO	material property	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
EFO:0000408	EFO:0005803	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99138	"" []	5419994	\N	\N	EFO	7	EFO	disease	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99138	"" []	6848960	\N	\N	EFO	10	EFO	experimental factor	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Orphanet:99169	\N	\N	"" []	Orphanet:99169	"" []	79199	\N	\N	EFO	0	EFO	Epiblepharon	Epiblepharon
Orphanet:98567	Orphanet:99169	\N	"" []	Orphanet:99169	"" []	224240	\N	\N	EFO	1	EFO	Eyelids malposition disorder	Epiblepharon
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:99169	"" []	581035	\N	\N	EFO	2	EFO	Rare palpebral disease	Epiblepharon
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:99169	"" []	1165046	\N	\N	EFO	3	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Epiblepharon
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:99169	"" []	2049005	\N	\N	EFO	4	EFO	Rare genetic eye disease	Epiblepharon
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99169	"" []	3199095	\N	\N	EFO	5	EFO	genetic disorder	Epiblepharon
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99169	"" []	3199096	\N	\N	EFO	5	EFO	eye disease	Epiblepharon
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99169	"" []	4404364	\N	\N	EFO	6	EFO	disease	Epiblepharon
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99169	"" []	4404365	\N	\N	EFO	6	EFO	disease	Epiblepharon
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99169	"" []	5419995	\N	\N	EFO	7	EFO	disposition	Epiblepharon
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99169	"" []	6154021	\N	\N	EFO	8	EFO	material property	Epiblepharon
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99169	"" []	6634720	\N	\N	EFO	9	EFO	experimental factor	Epiblepharon
Orphanet:99170	\N	\N	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	79200	\N	\N	EFO	0	EFO	Tarsal kink syndrome	Tarsal kink syndrome
Orphanet:98568	Orphanet:99170	\N	"" []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	224241	\N	\N	EFO	1	EFO	Congenital entropion	Tarsal kink syndrome
Orphanet:98567	Orphanet:98568	\N	"" []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	581036	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Tarsal kink syndrome
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	1165047	\N	\N	EFO	3	EFO	Rare palpebral disease	Tarsal kink syndrome
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	2049006	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Tarsal kink syndrome
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	3199097	\N	\N	EFO	5	EFO	Rare genetic eye disease	Tarsal kink syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	4404366	\N	\N	EFO	6	EFO	genetic disorder	Tarsal kink syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	4404367	\N	\N	EFO	6	EFO	eye disease	Tarsal kink syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	5419996	\N	\N	EFO	7	EFO	disease	Tarsal kink syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	5419997	\N	\N	EFO	7	EFO	disease	Tarsal kink syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	6154022	\N	\N	EFO	8	EFO	disposition	Tarsal kink syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	6634721	\N	\N	EFO	9	EFO	material property	Tarsal kink syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99170	"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." []	6926442	\N	\N	EFO	10	EFO	experimental factor	Tarsal kink syndrome
Orphanet:99171	\N	\N	"" []	Orphanet:99171	"" []	79201	\N	\N	EFO	0	EFO	Isolated congenital ectropion	Isolated congenital ectropion
Orphanet:98570	Orphanet:99171	\N	"" []	Orphanet:99171	"" []	224242	\N	\N	EFO	1	EFO	Congenital ectropion	Isolated congenital ectropion
Orphanet:98567	Orphanet:98570	\N	"" []	Orphanet:99171	"" []	581037	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Isolated congenital ectropion
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:99171	"" []	1165048	\N	\N	EFO	3	EFO	Rare palpebral disease	Isolated congenital ectropion
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:99171	"" []	2049007	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Isolated congenital ectropion
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:99171	"" []	3199098	\N	\N	EFO	5	EFO	Rare genetic eye disease	Isolated congenital ectropion
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99171	"" []	4404368	\N	\N	EFO	6	EFO	genetic disorder	Isolated congenital ectropion
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99171	"" []	4404369	\N	\N	EFO	6	EFO	eye disease	Isolated congenital ectropion
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99171	"" []	5419998	\N	\N	EFO	7	EFO	disease	Isolated congenital ectropion
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99171	"" []	5419999	\N	\N	EFO	7	EFO	disease	Isolated congenital ectropion
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99171	"" []	6154023	\N	\N	EFO	8	EFO	disposition	Isolated congenital ectropion
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99171	"" []	6634722	\N	\N	EFO	9	EFO	material property	Isolated congenital ectropion
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99171	"" []	6926443	\N	\N	EFO	10	EFO	experimental factor	Isolated congenital ectropion
Orphanet:99172	\N	\N	"" []	Orphanet:99172	"" []	79202	\N	\N	EFO	0	EFO	Euryblepharon	Euryblepharon
Orphanet:98570	Orphanet:99172	\N	"" []	Orphanet:99172	"" []	224243	\N	\N	EFO	1	EFO	Congenital ectropion	Euryblepharon
Orphanet:98567	Orphanet:98570	\N	"" []	Orphanet:99172	"" []	581038	\N	\N	EFO	2	EFO	Eyelids malposition disorder	Euryblepharon
Orphanet:98560	Orphanet:98567	\N	"" []	Orphanet:99172	"" []	1165049	\N	\N	EFO	3	EFO	Rare palpebral disease	Euryblepharon
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:99172	"" []	2049008	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Euryblepharon
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:99172	"" []	3199099	\N	\N	EFO	5	EFO	Rare genetic eye disease	Euryblepharon
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99172	"" []	4404370	\N	\N	EFO	6	EFO	genetic disorder	Euryblepharon
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99172	"" []	4404371	\N	\N	EFO	6	EFO	eye disease	Euryblepharon
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99172	"" []	5420000	\N	\N	EFO	7	EFO	disease	Euryblepharon
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99172	"" []	5420001	\N	\N	EFO	7	EFO	disease	Euryblepharon
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99172	"" []	6154024	\N	\N	EFO	8	EFO	disposition	Euryblepharon
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99172	"" []	6634723	\N	\N	EFO	9	EFO	material property	Euryblepharon
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99172	"" []	6926444	\N	\N	EFO	10	EFO	experimental factor	Euryblepharon
Orphanet:99176	\N	\N	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	79203	\N	\N	EFO	0	EFO	Congenital eyelid retraction	Congenital eyelid retraction
Orphanet:98579	Orphanet:99176	\N	"" []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	224244	\N	\N	EFO	1	EFO	Congenital upper palpebral retraction	Congenital eyelid retraction
Orphanet:98577	Orphanet:98579	\N	"" []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	581039	\N	\N	EFO	2	EFO	Kinetic eyelid anomaly	Congenital eyelid retraction
Orphanet:98560	Orphanet:98577	\N	"" []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	1165050	\N	\N	EFO	3	EFO	Rare palpebral disease	Congenital eyelid retraction
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	2049009	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Congenital eyelid retraction
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	3199100	\N	\N	EFO	5	EFO	Rare genetic eye disease	Congenital eyelid retraction
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	4404372	\N	\N	EFO	6	EFO	genetic disorder	Congenital eyelid retraction
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	4404373	\N	\N	EFO	6	EFO	eye disease	Congenital eyelid retraction
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	5420002	\N	\N	EFO	7	EFO	disease	Congenital eyelid retraction
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	5420003	\N	\N	EFO	7	EFO	disease	Congenital eyelid retraction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	6154025	\N	\N	EFO	8	EFO	disposition	Congenital eyelid retraction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	6634724	\N	\N	EFO	9	EFO	material property	Congenital eyelid retraction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99176	"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." []	6926445	\N	\N	EFO	10	EFO	experimental factor	Congenital eyelid retraction
Orphanet:99177	\N	\N	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	79204	\N	\N	EFO	0	EFO	Isolated distichiasis	Isolated distichiasis
Orphanet:98600	Orphanet:99177	\N	"" []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	224245	\N	\N	EFO	1	EFO	Eyebrow/eyelashes distichiasis	Isolated distichiasis
Orphanet:98594	Orphanet:98600	\N	"" []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	581040	\N	\N	EFO	2	EFO	Rare eyebrow/eyelashes anomaly	Isolated distichiasis
Orphanet:98560	Orphanet:98594	\N	"" []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	1165051	\N	\N	EFO	3	EFO	Rare palpebral disease	Isolated distichiasis
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	2049010	\N	\N	EFO	4	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Isolated distichiasis
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	3199101	\N	\N	EFO	5	EFO	Rare genetic eye disease	Isolated distichiasis
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	4404374	\N	\N	EFO	6	EFO	genetic disorder	Isolated distichiasis
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	4404375	\N	\N	EFO	6	EFO	eye disease	Isolated distichiasis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	5420004	\N	\N	EFO	7	EFO	disease	Isolated distichiasis
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	5420005	\N	\N	EFO	7	EFO	disease	Isolated distichiasis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	6154026	\N	\N	EFO	8	EFO	disposition	Isolated distichiasis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	6634725	\N	\N	EFO	9	EFO	material property	Isolated distichiasis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99177	"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." []	6926446	\N	\N	EFO	10	EFO	experimental factor	Isolated distichiasis
Orphanet:99179	\N	\N	"" []	Orphanet:99179	"" []	79205	\N	\N	EFO	0	EFO	Kandori fleck retina	Kandori fleck retina
Orphanet:227786	Orphanet:99179	\N	"" []	Orphanet:99179	"" []	224246	\N	\N	EFO	1	EFO	Familial flecked retinopathy	Kandori fleck retina
Orphanet:98664	Orphanet:227786	\N	"" []	Orphanet:99179	"" []	581041	\N	\N	EFO	2	EFO	Genetic macular dystrophy	Kandori fleck retina
Orphanet:71862	Orphanet:98664	\N	"" []	Orphanet:99179	"" []	1165052	\N	\N	EFO	3	EFO	Retinal dystrophy	Kandori fleck retina
Orphanet:98657	Orphanet:71862	\N	"" []	Orphanet:99179	"" []	2049011	\N	\N	EFO	4	EFO	Genetic vitreous-retinal disease	Kandori fleck retina
Orphanet:101435	Orphanet:98657	\N	"" []	Orphanet:99179	"" []	3199102	\N	\N	EFO	5	EFO	Rare genetic eye disease	Kandori fleck retina
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99179	"" []	4404376	\N	\N	EFO	6	EFO	genetic disorder	Kandori fleck retina
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99179	"" []	4404377	\N	\N	EFO	6	EFO	eye disease	Kandori fleck retina
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99179	"" []	5420006	\N	\N	EFO	7	EFO	disease	Kandori fleck retina
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99179	"" []	5420007	\N	\N	EFO	7	EFO	disease	Kandori fleck retina
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99179	"" []	6154027	\N	\N	EFO	8	EFO	disposition	Kandori fleck retina
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99179	"" []	6634726	\N	\N	EFO	9	EFO	material property	Kandori fleck retina
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99179	"" []	6926447	\N	\N	EFO	10	EFO	experimental factor	Kandori fleck retina
Orphanet:99226	\N	\N	"" []	Orphanet:99226	"" []	79206	\N	\N	EFO	0	EFO	Monosomy X	Monosomy X
Orphanet:881	Orphanet:99226	\N	"" []	Orphanet:99226	"" []	224247	\N	\N	EFO	1	EFO	Turner syndrome	Monosomy X
Orphanet:108987	Orphanet:881	\N	"" []	Orphanet:99226	"" []	581042	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Monosomy X
Orphanet:165707	Orphanet:881	\N	"" []	Orphanet:99226	"" []	581043	\N	\N	EFO	2	EFO	Syndromic urogenital tract malformation	Monosomy X
Orphanet:263717	Orphanet:881	\N	"" []	Orphanet:99226	"" []	581044	\N	\N	EFO	2	EFO	X chromosome number anomaly with female phenotype	Monosomy X
Orphanet:325546	Orphanet:881	\N	"" []	Orphanet:99226	"" []	581045	\N	\N	EFO	2	EFO	Sex chromosome disorder of sex development	Monosomy X
Orphanet:325638	Orphanet:881	\N	"" []	Orphanet:99226	"" []	581046	\N	\N	EFO	2	EFO	Syndrome with disorder of sex development of gynecological interest	Monosomy X
Orphanet:399877	Orphanet:881	\N	"" []	Orphanet:99226	"" []	581047	\N	\N	EFO	2	EFO	Female infertility due to gonadal dysgenesis	Monosomy X
Orphanet:93547	Orphanet:881	\N	"" []	Orphanet:99226	"" []	581048	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Monosomy X
Orphanet:95710	Orphanet:881	\N	"" []	Orphanet:99226	"" []	581049	\N	\N	EFO	2	EFO	Non-acquired premature ovarian failure	Monosomy X
Orphanet:98574	Orphanet:881	\N	"" []	Orphanet:99226	"" []	581050	\N	\N	EFO	2	EFO	Syndromic epicanthus	Monosomy X
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:99226	"" []	1165053	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Monosomy X
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:99226	"" []	1165054	\N	\N	EFO	3	EFO	Genetic urogenital tract malformation	Monosomy X
Orphanet:263714	Orphanet:263717	\N	"" []	Orphanet:99226	"" []	1165055	\N	\N	EFO	3	EFO	X chromosome number anomaly	Monosomy X
Orphanet:325690	Orphanet:325546	\N	"" []	Orphanet:99226	"" []	1165056	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Monosomy X
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:99226	"" []	1165057	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	Monosomy X
Orphanet:400008	Orphanet:399877	\N	"" []	Orphanet:99226	"" []	1165058	\N	\N	EFO	3	EFO	Rare genetic female infertility	Monosomy X
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:99226	"" []	1165059	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Monosomy X
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:99226	"" []	1165060	\N	\N	EFO	3	EFO	ovarian disease	Monosomy X
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:99226	"" []	1165061	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Monosomy X
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:99226	"" []	1165062	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Monosomy X
Orphanet:98573	Orphanet:98574	\N	"" []	Orphanet:99226	"" []	1165063	\N	\N	EFO	3	EFO	Epicanthal fold	Monosomy X
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:99226	"" []	2049012	\N	\N	EFO	4	EFO	Rare genetic eye disease	Monosomy X
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:99226	"" []	2049013	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Monosomy X
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:99226	"" []	2049014	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Monosomy X
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:99226	"" []	2049015	\N	\N	EFO	4	EFO	Gonosome number anomaly	Monosomy X
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:99226	"" []	2049016	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Monosomy X
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:99226	"" []	2049017	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Monosomy X
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:99226	"" []	2049018	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Monosomy X
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:99226	"" []	2049019	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Monosomy X
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:99226	"" []	2049020	\N	\N	EFO	4	EFO	Genetic infertility	Monosomy X
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:99226	"" []	2049021	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Monosomy X
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:99226	"" []	2049022	\N	\N	EFO	4	EFO	Rare genetic renal disease	Monosomy X
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:99226	"" []	2049023	\N	\N	EFO	4	EFO	reproductive system disease	Monosomy X
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99226	"" []	3199108	\N	\N	EFO	5	EFO	genetic disorder	Monosomy X
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99226	"" []	3199109	\N	\N	EFO	5	EFO	endocrine system disease	Monosomy X
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:99226	"" []	2049026	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Monosomy X
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:99226	"" []	2049027	\N	\N	EFO	4	EFO	Canthal anomaly	Monosomy X
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99226	"" []	6154030	\N	\N	EFO	8	EFO	genetic disorder	Monosomy X
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99226	"" []	6154031	\N	\N	EFO	8	EFO	eye disease	Monosomy X
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99226	"" []	3199105	\N	\N	EFO	5	EFO	genetic disorder	Monosomy X
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99226	"" []	3199106	\N	\N	EFO	5	EFO	genetic disorder	Monosomy X
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:99226	"" []	3199107	\N	\N	EFO	5	EFO	Gonosome anomaly	Monosomy X
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99226	"" []	3199110	\N	\N	EFO	5	EFO	genetic disorder	Monosomy X
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:99226	"" []	3199111	\N	\N	EFO	5	EFO	reproductive system disease	Monosomy X
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99226	"" []	3199112	\N	\N	EFO	5	EFO	genetic disorder	Monosomy X
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:99226	"" []	3199113	\N	\N	EFO	5	EFO	reproductive system disease	Monosomy X
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99226	"" []	3199114	\N	\N	EFO	5	EFO	genetic disorder	Monosomy X
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99226	"" []	4404380	\N	\N	EFO	6	EFO	disease	Monosomy X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99226	"" []	6410485	\N	\N	EFO	9	EFO	disease	Monosomy X
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99226	"" []	4134591	\N	\N	EFO	6	EFO	disease	Monosomy X
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:99226	"" []	3199118	\N	\N	EFO	5	EFO	Rare palpebral disease	Monosomy X
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99226	"" []	6410486	\N	\N	EFO	9	EFO	disease	Monosomy X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:99226	"" []	4404379	\N	\N	EFO	6	EFO	Chromosomal anomaly	Monosomy X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99226	"" []	6778874	\N	\N	EFO	10	EFO	disposition	Monosomy X
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:99226	"" []	4404382	\N	\N	EFO	6	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Monosomy X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99226	"" []	5420008	\N	\N	EFO	7	EFO	genetic disorder	Monosomy X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99226	"" []	7030060	\N	\N	EFO	11	EFO	material property	Monosomy X
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:99226	"" []	5420010	\N	\N	EFO	7	EFO	Rare genetic eye disease	Monosomy X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99226	"" []	7181842	\N	\N	EFO	12	EFO	experimental factor	Monosomy X
Orphanet:99228	\N	\N	"" []	Orphanet:99228	"" []	79207	\N	\N	EFO	0	EFO	Mosaic monosomy X	Mosaic monosomy X
Orphanet:881	Orphanet:99228	\N	"" []	Orphanet:99228	"" []	224248	\N	\N	EFO	1	EFO	Turner syndrome	Mosaic monosomy X
Orphanet:108987	Orphanet:881	\N	"" []	Orphanet:99228	"" []	581051	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Mosaic monosomy X
Orphanet:165707	Orphanet:881	\N	"" []	Orphanet:99228	"" []	581052	\N	\N	EFO	2	EFO	Syndromic urogenital tract malformation	Mosaic monosomy X
Orphanet:263717	Orphanet:881	\N	"" []	Orphanet:99228	"" []	581053	\N	\N	EFO	2	EFO	X chromosome number anomaly with female phenotype	Mosaic monosomy X
Orphanet:325546	Orphanet:881	\N	"" []	Orphanet:99228	"" []	581054	\N	\N	EFO	2	EFO	Sex chromosome disorder of sex development	Mosaic monosomy X
Orphanet:325638	Orphanet:881	\N	"" []	Orphanet:99228	"" []	581055	\N	\N	EFO	2	EFO	Syndrome with disorder of sex development of gynecological interest	Mosaic monosomy X
Orphanet:399877	Orphanet:881	\N	"" []	Orphanet:99228	"" []	581056	\N	\N	EFO	2	EFO	Female infertility due to gonadal dysgenesis	Mosaic monosomy X
Orphanet:93547	Orphanet:881	\N	"" []	Orphanet:99228	"" []	581057	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Mosaic monosomy X
Orphanet:95710	Orphanet:881	\N	"" []	Orphanet:99228	"" []	581058	\N	\N	EFO	2	EFO	Non-acquired premature ovarian failure	Mosaic monosomy X
Orphanet:98574	Orphanet:881	\N	"" []	Orphanet:99228	"" []	581059	\N	\N	EFO	2	EFO	Syndromic epicanthus	Mosaic monosomy X
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:99228	"" []	1165064	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Mosaic monosomy X
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:99228	"" []	1165065	\N	\N	EFO	3	EFO	Genetic urogenital tract malformation	Mosaic monosomy X
Orphanet:263714	Orphanet:263717	\N	"" []	Orphanet:99228	"" []	1165066	\N	\N	EFO	3	EFO	X chromosome number anomaly	Mosaic monosomy X
Orphanet:325690	Orphanet:325546	\N	"" []	Orphanet:99228	"" []	1165067	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Mosaic monosomy X
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:99228	"" []	1165068	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	Mosaic monosomy X
Orphanet:400008	Orphanet:399877	\N	"" []	Orphanet:99228	"" []	1165069	\N	\N	EFO	3	EFO	Rare genetic female infertility	Mosaic monosomy X
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:99228	"" []	1165070	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Mosaic monosomy X
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:99228	"" []	1165071	\N	\N	EFO	3	EFO	ovarian disease	Mosaic monosomy X
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:99228	"" []	1165072	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Mosaic monosomy X
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:99228	"" []	1165073	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Mosaic monosomy X
Orphanet:98573	Orphanet:98574	\N	"" []	Orphanet:99228	"" []	1165074	\N	\N	EFO	3	EFO	Epicanthal fold	Mosaic monosomy X
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:99228	"" []	2049028	\N	\N	EFO	4	EFO	Rare genetic eye disease	Mosaic monosomy X
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:99228	"" []	2049029	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mosaic monosomy X
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:99228	"" []	2049030	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Mosaic monosomy X
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:99228	"" []	2049031	\N	\N	EFO	4	EFO	Gonosome number anomaly	Mosaic monosomy X
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:99228	"" []	2049032	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Mosaic monosomy X
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:99228	"" []	2049033	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Mosaic monosomy X
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:99228	"" []	2049034	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mosaic monosomy X
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:99228	"" []	2049035	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Mosaic monosomy X
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:99228	"" []	2049036	\N	\N	EFO	4	EFO	Genetic infertility	Mosaic monosomy X
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:99228	"" []	2049037	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Mosaic monosomy X
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:99228	"" []	2049038	\N	\N	EFO	4	EFO	Rare genetic renal disease	Mosaic monosomy X
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:99228	"" []	2049039	\N	\N	EFO	4	EFO	reproductive system disease	Mosaic monosomy X
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99228	"" []	3199124	\N	\N	EFO	5	EFO	genetic disorder	Mosaic monosomy X
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99228	"" []	3199125	\N	\N	EFO	5	EFO	endocrine system disease	Mosaic monosomy X
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:99228	"" []	2049042	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Mosaic monosomy X
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:99228	"" []	2049043	\N	\N	EFO	4	EFO	Canthal anomaly	Mosaic monosomy X
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99228	"" []	6154034	\N	\N	EFO	8	EFO	genetic disorder	Mosaic monosomy X
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99228	"" []	6154035	\N	\N	EFO	8	EFO	eye disease	Mosaic monosomy X
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99228	"" []	3199121	\N	\N	EFO	5	EFO	genetic disorder	Mosaic monosomy X
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99228	"" []	3199122	\N	\N	EFO	5	EFO	genetic disorder	Mosaic monosomy X
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:99228	"" []	3199123	\N	\N	EFO	5	EFO	Gonosome anomaly	Mosaic monosomy X
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99228	"" []	3199126	\N	\N	EFO	5	EFO	genetic disorder	Mosaic monosomy X
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:99228	"" []	3199127	\N	\N	EFO	5	EFO	reproductive system disease	Mosaic monosomy X
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99228	"" []	3199128	\N	\N	EFO	5	EFO	genetic disorder	Mosaic monosomy X
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:99228	"" []	3199129	\N	\N	EFO	5	EFO	reproductive system disease	Mosaic monosomy X
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99228	"" []	3199130	\N	\N	EFO	5	EFO	genetic disorder	Mosaic monosomy X
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99228	"" []	4404385	\N	\N	EFO	6	EFO	disease	Mosaic monosomy X
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99228	"" []	6410488	\N	\N	EFO	9	EFO	disease	Mosaic monosomy X
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99228	"" []	4134593	\N	\N	EFO	6	EFO	disease	Mosaic monosomy X
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:99228	"" []	3199134	\N	\N	EFO	5	EFO	Rare palpebral disease	Mosaic monosomy X
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99228	"" []	6410489	\N	\N	EFO	9	EFO	disease	Mosaic monosomy X
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:99228	"" []	4404384	\N	\N	EFO	6	EFO	Chromosomal anomaly	Mosaic monosomy X
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99228	"" []	6778875	\N	\N	EFO	10	EFO	disposition	Mosaic monosomy X
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:99228	"" []	4404387	\N	\N	EFO	6	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Mosaic monosomy X
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99228	"" []	5420011	\N	\N	EFO	7	EFO	genetic disorder	Mosaic monosomy X
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99228	"" []	7030061	\N	\N	EFO	11	EFO	material property	Mosaic monosomy X
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:99228	"" []	5420013	\N	\N	EFO	7	EFO	Rare genetic eye disease	Mosaic monosomy X
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99228	"" []	7181843	\N	\N	EFO	12	EFO	experimental factor	Mosaic monosomy X
Orphanet:99324	\N	\N	"" []	Orphanet:99324	"" []	79208	\N	\N	EFO	0	EFO	Paternal uniparental disomy of chromosome 13	Paternal uniparental disomy of chromosome 13
Orphanet:98154	Orphanet:99324	\N	"" []	Orphanet:99324	"" []	224249	\N	\N	EFO	1	EFO	Uniparental disomy of paternal origin	Paternal uniparental disomy of chromosome 13
Orphanet:98152	Orphanet:98154	\N	"" []	Orphanet:99324	"" []	581060	\N	\N	EFO	2	EFO	Autosomal uniparental disomy	Paternal uniparental disomy of chromosome 13
Orphanet:98127	Orphanet:98152	\N	"" []	Orphanet:99324	"" []	1165075	\N	\N	EFO	3	EFO	Autosomal anomaly	Paternal uniparental disomy of chromosome 13
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:99324	"" []	2049044	\N	\N	EFO	4	EFO	Chromosomal anomaly	Paternal uniparental disomy of chromosome 13
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99324	"" []	3199135	\N	\N	EFO	5	EFO	genetic disorder	Paternal uniparental disomy of chromosome 13
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99324	"" []	4404388	\N	\N	EFO	6	EFO	disease	Paternal uniparental disomy of chromosome 13
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99324	"" []	5420014	\N	\N	EFO	7	EFO	disposition	Paternal uniparental disomy of chromosome 13
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99324	"" []	6154036	\N	\N	EFO	8	EFO	material property	Paternal uniparental disomy of chromosome 13
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99324	"" []	6634727	\N	\N	EFO	9	EFO	experimental factor	Paternal uniparental disomy of chromosome 13
Orphanet:99329	\N	\N	"" []	Orphanet:99329	"" []	79209	\N	\N	EFO	0	EFO	48,XYYY syndrome	48,XYYY syndrome
Orphanet:165707	Orphanet:99329	\N	"" []	Orphanet:99329	"" []	224250	\N	\N	EFO	1	EFO	Syndromic urogenital tract malformation	48,XYYY syndrome
Orphanet:263746	Orphanet:99329	\N	"" []	Orphanet:99329	"" []	224251	\N	\N	EFO	1	EFO	Y chromosome number anomaly	48,XYYY syndrome
Orphanet:98313	Orphanet:99329	\N	"" []	Orphanet:99329	"" []	224252	\N	\N	EFO	1	EFO	Male infertility due to gonadal dysgenesis	48,XYYY syndrome
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:99329	"" []	581061	\N	\N	EFO	2	EFO	Genetic urogenital tract malformation	48,XYYY syndrome
Orphanet:98156	Orphanet:263746	\N	"" []	Orphanet:99329	"" []	581062	\N	\N	EFO	2	EFO	Gonosome number anomaly	48,XYYY syndrome
Orphanet:399764	Orphanet:98313	\N	"" []	Orphanet:99329	"" []	581063	\N	\N	EFO	2	EFO	Male infertility due to gonadal dysgenesis or sperm disorder	48,XYYY syndrome
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:99329	"" []	1165076	\N	\N	EFO	3	EFO	Rare genetic urogenital disease	48,XYYY syndrome
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:99329	"" []	1165077	\N	\N	EFO	3	EFO	Gonosome anomaly	48,XYYY syndrome
Orphanet:399980	Orphanet:399764	\N	"" []	Orphanet:99329	"" []	1165078	\N	\N	EFO	3	EFO	Rare genetic male infertility	48,XYYY syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99329	"" []	2049045	\N	\N	EFO	4	EFO	genetic disorder	48,XYYY syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:99329	"" []	2049046	\N	\N	EFO	4	EFO	Chromosomal anomaly	48,XYYY syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:99329	"" []	2049047	\N	\N	EFO	4	EFO	Genetic infertility	48,XYYY syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99329	"" []	4404390	\N	\N	EFO	6	EFO	disease	48,XYYY syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99329	"" []	3199137	\N	\N	EFO	5	EFO	genetic disorder	48,XYYY syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99329	"" []	3199138	\N	\N	EFO	5	EFO	genetic disorder	48,XYYY syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:99329	"" []	3199139	\N	\N	EFO	5	EFO	reproductive system disease	48,XYYY syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99329	"" []	5183821	\N	\N	EFO	7	EFO	disposition	48,XYYY syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99329	"" []	4404391	\N	\N	EFO	6	EFO	disease	48,XYYY syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99329	"" []	5999130	\N	\N	EFO	8	EFO	material property	48,XYYY syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99329	"" []	6552085	\N	\N	EFO	9	EFO	experimental factor	48,XYYY syndrome
Orphanet:99330	\N	\N	"" []	Orphanet:99330	"" []	79210	\N	\N	EFO	0	EFO	49,XYYYY syndrome	49,XYYYY syndrome
Orphanet:263746	Orphanet:99330	\N	"" []	Orphanet:99330	"" []	224253	\N	\N	EFO	1	EFO	Y chromosome number anomaly	49,XYYYY syndrome
Orphanet:330206	Orphanet:99330	\N	"" []	Orphanet:99330	"" []	224254	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	49,XYYYY syndrome
Orphanet:98156	Orphanet:263746	\N	"" []	Orphanet:99330	"" []	581064	\N	\N	EFO	2	EFO	Gonosome number anomaly	49,XYYYY syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:99330	"" []	581065	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	49,XYYYY syndrome
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:99330	"" []	1165079	\N	\N	EFO	3	EFO	Gonosome anomaly	49,XYYYY syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:99330	"" []	1165080	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	49,XYYYY syndrome
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:99330	"" []	2049048	\N	\N	EFO	4	EFO	Chromosomal anomaly	49,XYYYY syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99330	"" []	2049049	\N	\N	EFO	4	EFO	genetic disorder	49,XYYYY syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99330	"" []	3199140	\N	\N	EFO	5	EFO	genetic disorder	49,XYYYY syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99330	"" []	4404392	\N	\N	EFO	6	EFO	disease	49,XYYYY syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99330	"" []	5183822	\N	\N	EFO	7	EFO	disposition	49,XYYYY syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99330	"" []	5999131	\N	\N	EFO	8	EFO	material property	49,XYYYY syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99330	"" []	6552086	\N	\N	EFO	9	EFO	experimental factor	49,XYYYY syndrome
Orphanet:99361	\N	\N	"" []	Orphanet:99361	"" []	79211	\N	\N	EFO	0	EFO	Familial medullary thyroid carcinoma	Familial medullary thyroid carcinoma
Orphanet:653	Orphanet:99361	\N	"Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." []	Orphanet:99361	"" []	224255	\N	\N	EFO	1	EFO	Multiple endocrine neoplasia type 2	Familial medullary thyroid carcinoma
Orphanet:140162	Orphanet:653	\N	"" []	Orphanet:99361	"" []	581066	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Familial medullary thyroid carcinoma
Orphanet:276161	Orphanet:653	\N	"" []	Orphanet:99361	"" []	581067	\N	\N	EFO	2	EFO	Multiple endocrine neoplasia	Familial medullary thyroid carcinoma
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99361	"" []	1165081	\N	\N	EFO	3	EFO	genetic disorder	Familial medullary thyroid carcinoma
Orphanet:100094	Orphanet:276161	\N	"" []	Orphanet:99361	"" []	1165082	\N	\N	EFO	3	EFO	Multiple polyglandular tumor	Familial medullary thyroid carcinoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99361	"" []	5420018	\N	\N	EFO	7	EFO	disease	Familial medullary thyroid carcinoma
Orphanet:183643	Orphanet:100094	\N	"" []	Orphanet:99361	"" []	2049051	\N	\N	EFO	4	EFO	Genetic polyendocrinopathy	Familial medullary thyroid carcinoma
Orphanet:271847	Orphanet:100094	\N	"" []	Orphanet:99361	"" []	2049052	\N	\N	EFO	4	EFO	Genetic endocrine tumor	Familial medullary thyroid carcinoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99361	"" []	5817943	\N	\N	EFO	8	EFO	disposition	Familial medullary thyroid carcinoma
Orphanet:156638	Orphanet:183643	\N	"" []	Orphanet:99361	"" []	3199143	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Familial medullary thyroid carcinoma
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:99361	"" []	3199144	\N	\N	EFO	5	EFO	endocrine neoplasm	Familial medullary thyroid carcinoma
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:99361	"" []	3199145	\N	\N	EFO	5	EFO	Rare genetic tumor	Familial medullary thyroid carcinoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99361	"" []	6410491	\N	\N	EFO	9	EFO	material property	Familial medullary thyroid carcinoma
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99361	"" []	4404395	\N	\N	EFO	6	EFO	genetic disorder	Familial medullary thyroid carcinoma
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99361	"" []	4404396	\N	\N	EFO	6	EFO	endocrine system disease	Familial medullary thyroid carcinoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:99361	"" []	4404397	\N	\N	EFO	6	EFO	neoplasm	Familial medullary thyroid carcinoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99361	"" []	4404398	\N	\N	EFO	6	EFO	endocrine system disease	Familial medullary thyroid carcinoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99361	"" []	4404399	\N	\N	EFO	6	EFO	genetic disorder	Familial medullary thyroid carcinoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:99361	"" []	4404400	\N	\N	EFO	6	EFO	neoplasm	Familial medullary thyroid carcinoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99361	"" []	6808286	\N	\N	EFO	10	EFO	experimental factor	Familial medullary thyroid carcinoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99361	"" []	5420019	\N	\N	EFO	7	EFO	disease	Familial medullary thyroid carcinoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99361	"" []	5420020	\N	\N	EFO	7	EFO	disease	Familial medullary thyroid carcinoma
Orphanet:994	\N	\N	"" []	Orphanet:994	"" []	79212	\N	\N	EFO	0	EFO	Fetal akinesia deformation sequence	Fetal akinesia deformation sequence
Orphanet:108993	Orphanet:994	\N	"" []	Orphanet:994	"" []	224256	\N	\N	EFO	1	EFO	Non-syndromic respiratory or mediastinal malformation	Fetal akinesia deformation sequence
Orphanet:330206	Orphanet:994	\N	"" []	Orphanet:994	"" []	224257	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Fetal akinesia deformation sequence
Orphanet:183554	Orphanet:108993	\N	"" []	Orphanet:994	"" []	581068	\N	\N	EFO	2	EFO	Genetic respiratory or mediastinal malformation	Fetal akinesia deformation sequence
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:994	"" []	581069	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	Fetal akinesia deformation sequence
EFO:0000684	Orphanet:183554	\N	"A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []	Orphanet:994	"" []	1165083	\N	\N	EFO	3	EFO	respiratory system disease	Fetal akinesia deformation sequence
Orphanet:183530	Orphanet:183554	\N	"" []	Orphanet:994	"" []	1165084	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fetal akinesia deformation sequence
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:994	"" []	1165085	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fetal akinesia deformation sequence
EFO:0000408	EFO:0000684	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:994	"" []	2049053	\N	\N	EFO	4	EFO	disease	Fetal akinesia deformation sequence
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:994	"" []	2049054	\N	\N	EFO	4	EFO	genetic disorder	Fetal akinesia deformation sequence
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:994	"" []	4404402	\N	\N	EFO	6	EFO	disposition	Fetal akinesia deformation sequence
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:994	"" []	3199147	\N	\N	EFO	5	EFO	disease	Fetal akinesia deformation sequence
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:994	"" []	5183823	\N	\N	EFO	7	EFO	material property	Fetal akinesia deformation sequence
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:994	"" []	5999132	\N	\N	EFO	8	EFO	experimental factor	Fetal akinesia deformation sequence
Orphanet:99413	\N	\N	"" []	Orphanet:99413	"" []	79213	\N	\N	EFO	0	EFO	Turner syndrome due to structural X chromosome anomalies	Turner syndrome due to structural X chromosome anomalies
Orphanet:881	Orphanet:99413	\N	"" []	Orphanet:99413	"" []	224258	\N	\N	EFO	1	EFO	Turner syndrome	Turner syndrome due to structural X chromosome anomalies
Orphanet:108987	Orphanet:881	\N	"" []	Orphanet:99413	"" []	581070	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Turner syndrome due to structural X chromosome anomalies
Orphanet:165707	Orphanet:881	\N	"" []	Orphanet:99413	"" []	581071	\N	\N	EFO	2	EFO	Syndromic urogenital tract malformation	Turner syndrome due to structural X chromosome anomalies
Orphanet:263717	Orphanet:881	\N	"" []	Orphanet:99413	"" []	581072	\N	\N	EFO	2	EFO	X chromosome number anomaly with female phenotype	Turner syndrome due to structural X chromosome anomalies
Orphanet:325546	Orphanet:881	\N	"" []	Orphanet:99413	"" []	581073	\N	\N	EFO	2	EFO	Sex chromosome disorder of sex development	Turner syndrome due to structural X chromosome anomalies
Orphanet:325638	Orphanet:881	\N	"" []	Orphanet:99413	"" []	581074	\N	\N	EFO	2	EFO	Syndrome with disorder of sex development of gynecological interest	Turner syndrome due to structural X chromosome anomalies
Orphanet:399877	Orphanet:881	\N	"" []	Orphanet:99413	"" []	581075	\N	\N	EFO	2	EFO	Female infertility due to gonadal dysgenesis	Turner syndrome due to structural X chromosome anomalies
Orphanet:93547	Orphanet:881	\N	"" []	Orphanet:99413	"" []	581076	\N	\N	EFO	2	EFO	Syndromic renal or urinary tract malformation	Turner syndrome due to structural X chromosome anomalies
Orphanet:95710	Orphanet:881	\N	"" []	Orphanet:99413	"" []	581077	\N	\N	EFO	2	EFO	Non-acquired premature ovarian failure	Turner syndrome due to structural X chromosome anomalies
Orphanet:98574	Orphanet:881	\N	"" []	Orphanet:99413	"" []	581078	\N	\N	EFO	2	EFO	Syndromic epicanthus	Turner syndrome due to structural X chromosome anomalies
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:99413	"" []	1165086	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Turner syndrome due to structural X chromosome anomalies
Orphanet:156622	Orphanet:165707	\N	"" []	Orphanet:99413	"" []	1165087	\N	\N	EFO	3	EFO	Genetic urogenital tract malformation	Turner syndrome due to structural X chromosome anomalies
Orphanet:263714	Orphanet:263717	\N	"" []	Orphanet:99413	"" []	1165088	\N	\N	EFO	3	EFO	X chromosome number anomaly	Turner syndrome due to structural X chromosome anomalies
Orphanet:325690	Orphanet:325546	\N	"" []	Orphanet:99413	"" []	1165089	\N	\N	EFO	3	EFO	Genetic disorder of sex development	Turner syndrome due to structural X chromosome anomalies
Orphanet:325665	Orphanet:325638	\N	"" []	Orphanet:99413	"" []	1165090	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	Turner syndrome due to structural X chromosome anomalies
Orphanet:400008	Orphanet:399877	\N	"" []	Orphanet:99413	"" []	1165091	\N	\N	EFO	3	EFO	Rare genetic female infertility	Turner syndrome due to structural X chromosome anomalies
Orphanet:183539	Orphanet:93547	\N	"" []	Orphanet:99413	"" []	1165092	\N	\N	EFO	3	EFO	Genetic renal or urinary tract malformation	Turner syndrome due to structural X chromosome anomalies
EFO:0005771	Orphanet:95710	\N	"A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors." []	Orphanet:99413	"" []	1165093	\N	\N	EFO	3	EFO	ovarian disease	Turner syndrome due to structural X chromosome anomalies
Orphanet:156638	Orphanet:95710	\N	"" []	Orphanet:99413	"" []	1165094	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Turner syndrome due to structural X chromosome anomalies
Orphanet:202940	Orphanet:95710	\N	"" []	Orphanet:99413	"" []	1165095	\N	\N	EFO	3	EFO	Anomaly of puberty or/and menstrual cycle of genetic origin	Turner syndrome due to structural X chromosome anomalies
Orphanet:98573	Orphanet:98574	\N	"" []	Orphanet:99413	"" []	1165096	\N	\N	EFO	3	EFO	Epicanthal fold	Turner syndrome due to structural X chromosome anomalies
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:99413	"" []	2049055	\N	\N	EFO	4	EFO	Rare genetic eye disease	Turner syndrome due to structural X chromosome anomalies
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:99413	"" []	2049056	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Turner syndrome due to structural X chromosome anomalies
Orphanet:156619	Orphanet:156622	\N	"" []	Orphanet:99413	"" []	2049057	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Turner syndrome due to structural X chromosome anomalies
Orphanet:98156	Orphanet:263714	\N	"" []	Orphanet:99413	"" []	2049058	\N	\N	EFO	4	EFO	Gonosome number anomaly	Turner syndrome due to structural X chromosome anomalies
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:99413	"" []	2049059	\N	\N	EFO	4	EFO	Rare genetic urogenital disease	Turner syndrome due to structural X chromosome anomalies
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:99413	"" []	2049060	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Turner syndrome due to structural X chromosome anomalies
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:99413	"" []	2049061	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Turner syndrome due to structural X chromosome anomalies
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:99413	"" []	2049062	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Turner syndrome due to structural X chromosome anomalies
Orphanet:275742	Orphanet:400008	\N	"" []	Orphanet:99413	"" []	2049063	\N	\N	EFO	4	EFO	Genetic infertility	Turner syndrome due to structural X chromosome anomalies
Orphanet:183530	Orphanet:183539	\N	"" []	Orphanet:99413	"" []	2049064	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Turner syndrome due to structural X chromosome anomalies
Orphanet:98056	Orphanet:183539	\N	"" []	Orphanet:99413	"" []	2049065	\N	\N	EFO	4	EFO	Rare genetic renal disease	Turner syndrome due to structural X chromosome anomalies
EFO:0000512	EFO:0005771	\N	"any diease of the reproductive system" []	Orphanet:99413	"" []	2049066	\N	\N	EFO	4	EFO	reproductive system disease	Turner syndrome due to structural X chromosome anomalies
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99413	"" []	3199153	\N	\N	EFO	5	EFO	genetic disorder	Turner syndrome due to structural X chromosome anomalies
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99413	"" []	3199154	\N	\N	EFO	5	EFO	endocrine system disease	Turner syndrome due to structural X chromosome anomalies
Orphanet:183731	Orphanet:202940	\N	"" []	Orphanet:99413	"" []	2049069	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Turner syndrome due to structural X chromosome anomalies
Orphanet:98572	Orphanet:98573	\N	"" []	Orphanet:99413	"" []	2049070	\N	\N	EFO	4	EFO	Canthal anomaly	Turner syndrome due to structural X chromosome anomalies
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99413	"" []	6154041	\N	\N	EFO	8	EFO	genetic disorder	Turner syndrome due to structural X chromosome anomalies
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99413	"" []	6154042	\N	\N	EFO	8	EFO	eye disease	Turner syndrome due to structural X chromosome anomalies
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99413	"" []	3199150	\N	\N	EFO	5	EFO	genetic disorder	Turner syndrome due to structural X chromosome anomalies
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99413	"" []	3199151	\N	\N	EFO	5	EFO	genetic disorder	Turner syndrome due to structural X chromosome anomalies
Orphanet:98155	Orphanet:98156	\N	"" []	Orphanet:99413	"" []	3199152	\N	\N	EFO	5	EFO	Gonosome anomaly	Turner syndrome due to structural X chromosome anomalies
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99413	"" []	3199155	\N	\N	EFO	5	EFO	genetic disorder	Turner syndrome due to structural X chromosome anomalies
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:99413	"" []	3199156	\N	\N	EFO	5	EFO	reproductive system disease	Turner syndrome due to structural X chromosome anomalies
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99413	"" []	3199157	\N	\N	EFO	5	EFO	genetic disorder	Turner syndrome due to structural X chromosome anomalies
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:99413	"" []	3199158	\N	\N	EFO	5	EFO	reproductive system disease	Turner syndrome due to structural X chromosome anomalies
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99413	"" []	3199159	\N	\N	EFO	5	EFO	genetic disorder	Turner syndrome due to structural X chromosome anomalies
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99413	"" []	4404405	\N	\N	EFO	6	EFO	disease	Turner syndrome due to structural X chromosome anomalies
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99413	"" []	6410492	\N	\N	EFO	9	EFO	disease	Turner syndrome due to structural X chromosome anomalies
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99413	"" []	4134595	\N	\N	EFO	6	EFO	disease	Turner syndrome due to structural X chromosome anomalies
Orphanet:98560	Orphanet:98572	\N	"" []	Orphanet:99413	"" []	3199163	\N	\N	EFO	5	EFO	Rare palpebral disease	Turner syndrome due to structural X chromosome anomalies
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99413	"" []	6410493	\N	\N	EFO	9	EFO	disease	Turner syndrome due to structural X chromosome anomalies
Orphanet:68335	Orphanet:98155	\N	"" []	Orphanet:99413	"" []	4404404	\N	\N	EFO	6	EFO	Chromosomal anomaly	Turner syndrome due to structural X chromosome anomalies
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99413	"" []	6778876	\N	\N	EFO	10	EFO	disposition	Turner syndrome due to structural X chromosome anomalies
Orphanet:183598	Orphanet:98560	\N	"" []	Orphanet:99413	"" []	4404407	\N	\N	EFO	6	EFO	Rare genetic palpebral, lacrimal system and conjunctival disease	Turner syndrome due to structural X chromosome anomalies
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99413	"" []	5420022	\N	\N	EFO	7	EFO	genetic disorder	Turner syndrome due to structural X chromosome anomalies
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99413	"" []	7030062	\N	\N	EFO	11	EFO	material property	Turner syndrome due to structural X chromosome anomalies
Orphanet:101435	Orphanet:183598	\N	"" []	Orphanet:99413	"" []	5420024	\N	\N	EFO	7	EFO	Rare genetic eye disease	Turner syndrome due to structural X chromosome anomalies
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99413	"" []	7181844	\N	\N	EFO	12	EFO	experimental factor	Turner syndrome due to structural X chromosome anomalies
Orphanet:99429	\N	\N	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	79214	\N	\N	EFO	0	EFO	Complete androgen insensitivity syndrome	Complete androgen insensitivity syndrome
Orphanet:754	Orphanet:99429	\N	"Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	224259	\N	\N	EFO	1	EFO	Androgen insensitivity syndrome	Complete androgen insensitivity syndrome
Orphanet:325632	Orphanet:754	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	581079	\N	\N	EFO	2	EFO	46,XY disorder of sex development of gynecological interest	Complete androgen insensitivity syndrome
Orphanet:325713	Orphanet:754	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	581080	\N	\N	EFO	2	EFO	Genetic 46,XY disorder of sex development of endocrine origin	Complete androgen insensitivity syndrome
Orphanet:399685	Orphanet:754	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	581081	\N	\N	EFO	2	EFO	Rare male infertility due to testicular endocrine disorder	Complete androgen insensitivity syndrome
Orphanet:325665	Orphanet:325632	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	1165097	\N	\N	EFO	3	EFO	Genetic disorder of sex development of gynecological interest	Complete androgen insensitivity syndrome
Orphanet:325706	Orphanet:325713	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	1165098	\N	\N	EFO	3	EFO	Genetic 46,XY disorder of sex development	Complete androgen insensitivity syndrome
Orphanet:399983	Orphanet:399685	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	1165099	\N	\N	EFO	3	EFO	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Complete androgen insensitivity syndrome
Orphanet:183731	Orphanet:325665	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	2049071	\N	\N	EFO	4	EFO	Rare genetic gynecological and obstetrical diseases	Complete androgen insensitivity syndrome
Orphanet:325690	Orphanet:325706	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	2049072	\N	\N	EFO	4	EFO	Genetic disorder of sex development	Complete androgen insensitivity syndrome
Orphanet:399980	Orphanet:399983	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	2049073	\N	\N	EFO	4	EFO	Rare genetic male infertility	Complete androgen insensitivity syndrome
EFO:0000508	Orphanet:183731	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	3199164	\N	\N	EFO	5	EFO	genetic disorder	Complete androgen insensitivity syndrome
EFO:0000512	Orphanet:183731	\N	"any diease of the reproductive system" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	3199165	\N	\N	EFO	5	EFO	reproductive system disease	Complete androgen insensitivity syndrome
Orphanet:156619	Orphanet:325690	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	3199166	\N	\N	EFO	5	EFO	Rare genetic urogenital disease	Complete androgen insensitivity syndrome
Orphanet:156638	Orphanet:325690	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	3199167	\N	\N	EFO	5	EFO	Rare genetic endocrine disease	Complete androgen insensitivity syndrome
Orphanet:183530	Orphanet:325690	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	3199168	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Complete androgen insensitivity syndrome
Orphanet:275742	Orphanet:399980	\N	"" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	3199169	\N	\N	EFO	5	EFO	Genetic infertility	Complete androgen insensitivity syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	5420026	\N	\N	EFO	7	EFO	disease	Complete androgen insensitivity syndrome
EFO:0000408	EFO:0000512	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	5420028	\N	\N	EFO	7	EFO	disease	Complete androgen insensitivity syndrome
EFO:0000508	Orphanet:156619	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	4404410	\N	\N	EFO	6	EFO	genetic disorder	Complete androgen insensitivity syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	4404411	\N	\N	EFO	6	EFO	genetic disorder	Complete androgen insensitivity syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	4404412	\N	\N	EFO	6	EFO	endocrine system disease	Complete androgen insensitivity syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	4404413	\N	\N	EFO	6	EFO	genetic disorder	Complete androgen insensitivity syndrome
EFO:0000508	Orphanet:275742	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	4404414	\N	\N	EFO	6	EFO	genetic disorder	Complete androgen insensitivity syndrome
EFO:0000512	Orphanet:275742	\N	"any diease of the reproductive system" []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	4404415	\N	\N	EFO	6	EFO	reproductive system disease	Complete androgen insensitivity syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	5999134	\N	\N	EFO	8	EFO	disposition	Complete androgen insensitivity syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	5420027	\N	\N	EFO	7	EFO	disease	Complete androgen insensitivity syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	6552088	\N	\N	EFO	9	EFO	material property	Complete androgen insensitivity syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99429	"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." []	6889671	\N	\N	EFO	10	EFO	experimental factor	Complete androgen insensitivity syndrome
Orphanet:99642	\N	\N	"" []	Orphanet:99642	"" []	79215	\N	\N	EFO	0	EFO	Spondyloepimetaphyseal dysplasia, Handigodu type	Spondyloepimetaphyseal dysplasia, Handigodu type
Orphanet:253	Orphanet:99642	\N	"" []	Orphanet:99642	"" []	224260	\N	\N	EFO	1	EFO	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal dysplasia, Handigodu type
Orphanet:364526	Orphanet:253	\N	"" []	Orphanet:99642	"" []	581082	\N	\N	EFO	2	EFO	Primary bone dysplasia	Spondyloepimetaphyseal dysplasia, Handigodu type
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:99642	"" []	1165100	\N	\N	EFO	3	EFO	Rare genetic bone disease	Spondyloepimetaphyseal dysplasia, Handigodu type
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:99642	"" []	1165101	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Spondyloepimetaphyseal dysplasia, Handigodu type
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99642	"" []	2049074	\N	\N	EFO	4	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Handigodu type
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:99642	"" []	2049075	\N	\N	EFO	4	EFO	bone disease	Spondyloepimetaphyseal dysplasia, Handigodu type
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:99642	"" []	2049076	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Spondyloepimetaphyseal dysplasia, Handigodu type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99642	"" []	4404418	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Handigodu type
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:99642	"" []	3199171	\N	\N	EFO	5	EFO	skeletal system disease	Spondyloepimetaphyseal dysplasia, Handigodu type
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99642	"" []	3199172	\N	\N	EFO	5	EFO	genetic disorder	Spondyloepimetaphyseal dysplasia, Handigodu type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99642	"" []	5183825	\N	\N	EFO	7	EFO	disposition	Spondyloepimetaphyseal dysplasia, Handigodu type
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99642	"" []	4404417	\N	\N	EFO	6	EFO	disease	Spondyloepimetaphyseal dysplasia, Handigodu type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99642	"" []	5999135	\N	\N	EFO	8	EFO	material property	Spondyloepimetaphyseal dysplasia, Handigodu type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99642	"" []	6552089	\N	\N	EFO	9	EFO	experimental factor	Spondyloepimetaphyseal dysplasia, Handigodu type
Orphanet:99645	\N	\N	"" []	Orphanet:99645	"" []	79216	\N	\N	EFO	0	EFO	Dappled diaphyseal dysplasia	Dappled diaphyseal dysplasia
Orphanet:93442	Orphanet:99645	\N	"" []	Orphanet:99645	"" []	224261	\N	\N	EFO	1	EFO	Chondrodysplasia punctata	Dappled diaphyseal dysplasia
Orphanet:364526	Orphanet:93442	\N	"" []	Orphanet:99645	"" []	581083	\N	\N	EFO	2	EFO	Primary bone dysplasia	Dappled diaphyseal dysplasia
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:99645	"" []	1165102	\N	\N	EFO	3	EFO	Rare genetic bone disease	Dappled diaphyseal dysplasia
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:99645	"" []	1165103	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Dappled diaphyseal dysplasia
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99645	"" []	2049077	\N	\N	EFO	4	EFO	genetic disorder	Dappled diaphyseal dysplasia
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:99645	"" []	2049078	\N	\N	EFO	4	EFO	bone disease	Dappled diaphyseal dysplasia
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:99645	"" []	2049079	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Dappled diaphyseal dysplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99645	"" []	4404421	\N	\N	EFO	6	EFO	disease	Dappled diaphyseal dysplasia
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:99645	"" []	3199174	\N	\N	EFO	5	EFO	skeletal system disease	Dappled diaphyseal dysplasia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99645	"" []	3199175	\N	\N	EFO	5	EFO	genetic disorder	Dappled diaphyseal dysplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99645	"" []	5183826	\N	\N	EFO	7	EFO	disposition	Dappled diaphyseal dysplasia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99645	"" []	4404420	\N	\N	EFO	6	EFO	disease	Dappled diaphyseal dysplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99645	"" []	5999136	\N	\N	EFO	8	EFO	material property	Dappled diaphyseal dysplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99645	"" []	6552090	\N	\N	EFO	9	EFO	experimental factor	Dappled diaphyseal dysplasia
Orphanet:99646	\N	\N	"" []	Orphanet:99646	"" []	79217	\N	\N	EFO	0	EFO	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Orphanet:93450	Orphanet:99646	\N	"" []	Orphanet:99646	"" []	224262	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:99646	"" []	581084	\N	\N	EFO	2	EFO	Primary bone dysplasia	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:99646	"" []	1165104	\N	\N	EFO	3	EFO	Rare genetic bone disease	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:99646	"" []	1165105	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99646	"" []	2049080	\N	\N	EFO	4	EFO	genetic disorder	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:99646	"" []	2049081	\N	\N	EFO	4	EFO	bone disease	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:99646	"" []	2049082	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99646	"" []	4404424	\N	\N	EFO	6	EFO	disease	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:99646	"" []	3199177	\N	\N	EFO	5	EFO	skeletal system disease	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99646	"" []	3199178	\N	\N	EFO	5	EFO	genetic disorder	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99646	"" []	5183827	\N	\N	EFO	7	EFO	disposition	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99646	"" []	4404423	\N	\N	EFO	6	EFO	disease	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99646	"" []	5999137	\N	\N	EFO	8	EFO	material property	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99646	"" []	6552091	\N	\N	EFO	9	EFO	experimental factor	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Orphanet:99647	\N	\N	"" []	Orphanet:99647	"" []	79218	\N	\N	EFO	0	EFO	Cheirospondyloenchondromatosis	Cheirospondyloenchondromatosis
Orphanet:93450	Orphanet:99647	\N	"" []	Orphanet:99647	"" []	224263	\N	\N	EFO	1	EFO	Primary bone dysplasia with disorganized development of skeletal components	Cheirospondyloenchondromatosis
Orphanet:364526	Orphanet:93450	\N	"" []	Orphanet:99647	"" []	581085	\N	\N	EFO	2	EFO	Primary bone dysplasia	Cheirospondyloenchondromatosis
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:99647	"" []	1165106	\N	\N	EFO	3	EFO	Rare genetic bone disease	Cheirospondyloenchondromatosis
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:99647	"" []	1165107	\N	\N	EFO	3	EFO	Rare genetic bone development disorder	Cheirospondyloenchondromatosis
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99647	"" []	2049083	\N	\N	EFO	4	EFO	genetic disorder	Cheirospondyloenchondromatosis
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:99647	"" []	2049084	\N	\N	EFO	4	EFO	bone disease	Cheirospondyloenchondromatosis
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:99647	"" []	2049085	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Cheirospondyloenchondromatosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99647	"" []	4404427	\N	\N	EFO	6	EFO	disease	Cheirospondyloenchondromatosis
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:99647	"" []	3199180	\N	\N	EFO	5	EFO	skeletal system disease	Cheirospondyloenchondromatosis
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99647	"" []	3199181	\N	\N	EFO	5	EFO	genetic disorder	Cheirospondyloenchondromatosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99647	"" []	5183828	\N	\N	EFO	7	EFO	disposition	Cheirospondyloenchondromatosis
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99647	"" []	4404426	\N	\N	EFO	6	EFO	disease	Cheirospondyloenchondromatosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99647	"" []	5999138	\N	\N	EFO	8	EFO	material property	Cheirospondyloenchondromatosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99647	"" []	6552092	\N	\N	EFO	9	EFO	experimental factor	Cheirospondyloenchondromatosis
Orphanet:99657	\N	\N	"" []	Orphanet:99657	"" []	79219	\N	\N	EFO	0	EFO	Primary dystonia, DYT2 type	Primary dystonia, DYT2 type
Orphanet:1866	Orphanet:99657	\N	"Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." []	Orphanet:99657	"" []	224264	\N	\N	EFO	1	EFO	Focal, segmental or multifocal dystonia	Primary dystonia, DYT2 type
Orphanet:156159	Orphanet:1866	\N	"" []	Orphanet:99657	"" []	581086	\N	\N	EFO	2	EFO	Isolated dystonia	Primary dystonia, DYT2 type
Orphanet:391799	Orphanet:156159	\N	"" []	Orphanet:99657	"" []	1165108	\N	\N	EFO	3	EFO	Rare genetic dystonia	Primary dystonia, DYT2 type
Orphanet:183521	Orphanet:391799	\N	"" []	Orphanet:99657	"" []	2049086	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Primary dystonia, DYT2 type
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:99657	"" []	3199182	\N	\N	EFO	5	EFO	movement disorder	Primary dystonia, DYT2 type
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:99657	"" []	3199183	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Primary dystonia, DYT2 type
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99657	"" []	4404428	\N	\N	EFO	6	EFO	nervous system disease	Primary dystonia, DYT2 type
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99657	"" []	4404429	\N	\N	EFO	6	EFO	genetic disorder	Primary dystonia, DYT2 type
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99657	"" []	5420033	\N	\N	EFO	7	EFO	disease	Primary dystonia, DYT2 type
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99657	"" []	5420034	\N	\N	EFO	7	EFO	disease	Primary dystonia, DYT2 type
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99657	"" []	6154048	\N	\N	EFO	8	EFO	disposition	Primary dystonia, DYT2 type
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99657	"" []	6634729	\N	\N	EFO	9	EFO	material property	Primary dystonia, DYT2 type
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99657	"" []	6926448	\N	\N	EFO	10	EFO	experimental factor	Primary dystonia, DYT2 type
Orphanet:99672	\N	\N	"" []	Orphanet:99672	"" []	79220	\N	\N	EFO	0	EFO	Fried's tooth and nail syndrome	Fried's tooth and nail syndrome
Orphanet:79373	Orphanet:99672	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:99672	"" []	224265	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Fried's tooth and nail syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:99672	"" []	581087	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Fried's tooth and nail syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:99672	"" []	581088	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Fried's tooth and nail syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:99672	"" []	1165109	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Fried's tooth and nail syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:99672	"" []	1165110	\N	\N	EFO	3	EFO	Rare genetic skin disease	Fried's tooth and nail syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99672	"" []	2049087	\N	\N	EFO	4	EFO	genetic disorder	Fried's tooth and nail syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99672	"" []	2049088	\N	\N	EFO	4	EFO	genetic disorder	Fried's tooth and nail syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:99672	"" []	2049089	\N	\N	EFO	4	EFO	skin disease	Fried's tooth and nail syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99672	"" []	3199184	\N	\N	EFO	5	EFO	disease	Fried's tooth and nail syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99672	"" []	3199185	\N	\N	EFO	5	EFO	disease	Fried's tooth and nail syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99672	"" []	4404430	\N	\N	EFO	6	EFO	disposition	Fried's tooth and nail syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99672	"" []	5420035	\N	\N	EFO	7	EFO	material property	Fried's tooth and nail syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99672	"" []	6154049	\N	\N	EFO	8	EFO	experimental factor	Fried's tooth and nail syndrome
Orphanet:99688	\N	\N	"" []	Orphanet:99688	"" []	79221	\N	\N	EFO	0	EFO	Dermotrichic syndrome	Dermotrichic syndrome
Orphanet:79373	Orphanet:99688	\N	"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." []	Orphanet:99688	"" []	224266	\N	\N	EFO	1	EFO	Ectodermal dysplasia syndrome	Dermotrichic syndrome
Orphanet:139027	Orphanet:79373	\N	"" []	Orphanet:99688	"" []	581089	\N	\N	EFO	2	EFO	Malformation syndrome with skin/mucosae involvement	Dermotrichic syndrome
Orphanet:183447	Orphanet:79373	\N	"" []	Orphanet:99688	"" []	581090	\N	\N	EFO	2	EFO	Genetic epidermal appendage anomaly	Dermotrichic syndrome
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:99688	"" []	1165111	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Dermotrichic syndrome
Orphanet:68346	Orphanet:183447	\N	"" []	Orphanet:99688	"" []	1165112	\N	\N	EFO	3	EFO	Rare genetic skin disease	Dermotrichic syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99688	"" []	2049090	\N	\N	EFO	4	EFO	genetic disorder	Dermotrichic syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99688	"" []	2049091	\N	\N	EFO	4	EFO	genetic disorder	Dermotrichic syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:99688	"" []	2049092	\N	\N	EFO	4	EFO	skin disease	Dermotrichic syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99688	"" []	3199186	\N	\N	EFO	5	EFO	disease	Dermotrichic syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99688	"" []	3199187	\N	\N	EFO	5	EFO	disease	Dermotrichic syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99688	"" []	4404431	\N	\N	EFO	6	EFO	disposition	Dermotrichic syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99688	"" []	5420036	\N	\N	EFO	7	EFO	material property	Dermotrichic syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99688	"" []	6154050	\N	\N	EFO	8	EFO	experimental factor	Dermotrichic syndrome
Orphanet:99701	\N	\N	"" []	Orphanet:99701	"" []	79222	\N	\N	EFO	0	EFO	Mesial temporal lobe epilepsy with hippocampal sclerosis	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:309	Orphanet:99701	\N	"" []	Orphanet:99701	"" []	224267	\N	\N	EFO	1	EFO	Familial partial epilepsy	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:166475	Orphanet:309	\N	"" []	Orphanet:99701	"" []	581091	\N	\N	EFO	2	EFO	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:182083	Orphanet:309	\N	"" []	Orphanet:99701	"" []	581092	\N	\N	EFO	2	EFO	Channelopathy with epilepsy	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:98259	Orphanet:309	\N	"" []	Orphanet:99701	"" []	581093	\N	\N	EFO	2	EFO	Childhood-onset epilepsy syndrome	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:98260	Orphanet:309	\N	"" []	Orphanet:99701	"" []	581094	\N	\N	EFO	2	EFO	Adolescent-onset epilepsy syndrome	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:183512	Orphanet:166475	\N	"" []	Orphanet:99701	"" []	1165113	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:166472	Orphanet:182083	\N	"" []	Orphanet:99701	"" []	1165114	\N	\N	EFO	3	EFO	Monogenic disease with epilepsy	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:166463	Orphanet:98259	\N	"" []	Orphanet:99701	"" []	1165115	\N	\N	EFO	3	EFO	Epilepsy syndrome	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:166463	Orphanet:98260	\N	"" []	Orphanet:99701	"" []	1165116	\N	\N	EFO	3	EFO	Epilepsy syndrome	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:99701	"" []	3199189	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:183512	Orphanet:166472	\N	"" []	Orphanet:99701	"" []	2049094	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:99701	"" []	2049095	\N	\N	EFO	4	EFO	Rare genetic epilepsy	Mesial temporal lobe epilepsy with hippocampal sclerosis
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99701	"" []	4134596	\N	\N	EFO	6	EFO	genetic disorder	Mesial temporal lobe epilepsy with hippocampal sclerosis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99701	"" []	5183829	\N	\N	EFO	7	EFO	disease	Mesial temporal lobe epilepsy with hippocampal sclerosis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99701	"" []	5999139	\N	\N	EFO	8	EFO	disposition	Mesial temporal lobe epilepsy with hippocampal sclerosis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99701	"" []	6552093	\N	\N	EFO	9	EFO	material property	Mesial temporal lobe epilepsy with hippocampal sclerosis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99701	"" []	6889672	\N	\N	EFO	10	EFO	experimental factor	Mesial temporal lobe epilepsy with hippocampal sclerosis
Orphanet:99706	\N	\N	"" []	Orphanet:99706	"" []	79223	\N	\N	EFO	0	EFO	Progeria-associated arthropathy	Progeria-associated arthropathy
Orphanet:271870	Orphanet:99706	\N	"" []	Orphanet:99706	"" []	224268	\N	\N	EFO	1	EFO	Rare genetic systemic or rheumatologic disease	Progeria-associated arthropathy
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99706	"" []	581095	\N	\N	EFO	2	EFO	genetic disorder	Progeria-associated arthropathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99706	"" []	1165117	\N	\N	EFO	3	EFO	disease	Progeria-associated arthropathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99706	"" []	2049096	\N	\N	EFO	4	EFO	disposition	Progeria-associated arthropathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99706	"" []	3199190	\N	\N	EFO	5	EFO	material property	Progeria-associated arthropathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99706	"" []	4404433	\N	\N	EFO	6	EFO	experimental factor	Progeria-associated arthropathy
Orphanet:99718	\N	\N	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	79224	\N	\N	EFO	0	EFO	Leber plus disease	Leber plus disease
Orphanet:217587	Orphanet:99718	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	224269	\N	\N	EFO	1	EFO	Mitochondrial disease with hypertrophic cardiomyopathy	Leber plus disease
Orphanet:217613	Orphanet:99718	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	224270	\N	\N	EFO	1	EFO	Mitochondrial disease with dilated cardiomyopathy	Leber plus disease
Orphanet:254776	Orphanet:99718	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	224271	\N	\N	EFO	1	EFO	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Leber plus disease
Orphanet:98671	Orphanet:99718	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	224272	\N	\N	EFO	1	EFO	Optic neuropathy	Leber plus disease
Orphanet:98695	Orphanet:99718	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	224273	\N	\N	EFO	1	EFO	Mitochondrial disease with eye involvement	Leber plus disease
Orphanet:99739	Orphanet:217587	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	581096	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Leber plus disease
Orphanet:217607	Orphanet:217613	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	581097	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Leber plus disease
Orphanet:254758	Orphanet:254776	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	581098	\N	\N	EFO	2	EFO	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Leber plus disease
Orphanet:101435	Orphanet:98671	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	581099	\N	\N	EFO	2	EFO	Rare genetic eye disease	Leber plus disease
Orphanet:98710	Orphanet:98695	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	581100	\N	\N	EFO	2	EFO	Metabolic disease associated with ocular features	Leber plus disease
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	1165118	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Leber plus disease
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	1165119	\N	\N	EFO	3	EFO	cardiomyopathy	Leber plus disease
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	1165120	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Leber plus disease
Orphanet:223713	Orphanet:254758	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	1165121	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder	Leber plus disease
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	2049103	\N	\N	EFO	4	EFO	genetic disorder	Leber plus disease
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	2049104	\N	\N	EFO	4	EFO	eye disease	Leber plus disease
Orphanet:101435	Orphanet:98710	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	1165124	\N	\N	EFO	3	EFO	Rare genetic eye disease	Leber plus disease
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	2049097	\N	\N	EFO	4	EFO	genetic disorder	Leber plus disease
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	2049098	\N	\N	EFO	4	EFO	heart disease	Leber plus disease
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	2049099	\N	\N	EFO	4	EFO	heart disease	Leber plus disease
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	2049100	\N	\N	EFO	4	EFO	Mitochondrial disease	Leber plus disease
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	6154052	\N	\N	EFO	8	EFO	disease	Leber plus disease
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	3000513	\N	\N	EFO	5	EFO	disease	Leber plus disease
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	3199191	\N	\N	EFO	5	EFO	cardiovascular disease	Leber plus disease
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	3199192	\N	\N	EFO	5	EFO	Developmental anomaly of metabolic origin	Leber plus disease
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	3199193	\N	\N	EFO	5	EFO	Disorder of energy metabolism	Leber plus disease
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	6379036	\N	\N	EFO	9	EFO	disposition	Leber plus disease
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	4404434	\N	\N	EFO	6	EFO	disease	Leber plus disease
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	4404435	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Leber plus disease
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	4404436	\N	\N	EFO	6	EFO	Inborn errors of metabolism	Leber plus disease
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	6778877	\N	\N	EFO	10	EFO	material property	Leber plus disease
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	5420039	\N	\N	EFO	7	EFO	genetic disorder	Leber plus disease
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	5420040	\N	\N	EFO	7	EFO	genetic disorder	Leber plus disease
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	5420041	\N	\N	EFO	7	EFO	metabolic disease	Leber plus disease
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	7030063	\N	\N	EFO	11	EFO	experimental factor	Leber plus disease
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99718	"Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." []	6154053	\N	\N	EFO	8	EFO	disease	Leber plus disease
Orphanet:99723	\N	\N	"Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." []	Orphanet:99723	"Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." []	79225	\N	\N	EFO	0	EFO	Familial esophageal achalasia	Familial esophageal achalasia
Orphanet:165658	Orphanet:99723	\N	"" []	Orphanet:99723	"Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." []	224274	\N	\N	EFO	1	EFO	Genetic gastro-esophageal disease	Familial esophageal achalasia
EFO:0000405	Orphanet:165658	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:99723	"Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." []	581101	\N	\N	EFO	2	EFO	digestive system disease	Familial esophageal achalasia
Orphanet:165652	Orphanet:165658	\N	"" []	Orphanet:99723	"Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." []	581102	\N	\N	EFO	2	EFO	Rare genetic gastroenterological disease	Familial esophageal achalasia
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99723	"Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." []	1165125	\N	\N	EFO	3	EFO	disease	Familial esophageal achalasia
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99723	"Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." []	1165126	\N	\N	EFO	3	EFO	genetic disorder	Familial esophageal achalasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99723	"Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." []	3199196	\N	\N	EFO	5	EFO	disposition	Familial esophageal achalasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99723	"Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." []	2049106	\N	\N	EFO	4	EFO	disease	Familial esophageal achalasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99723	"Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." []	4134598	\N	\N	EFO	6	EFO	material property	Familial esophageal achalasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99723	"Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." []	5183831	\N	\N	EFO	7	EFO	experimental factor	Familial esophageal achalasia
Orphanet:99731	\N	\N	"" []	Orphanet:99731	"" []	79226	\N	\N	EFO	0	EFO	Isolated sulfite oxidase deficiency	Isolated sulfite oxidase deficiency
Orphanet:833	Orphanet:99731	\N	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	Orphanet:99731	"" []	224275	\N	\N	EFO	1	EFO	Encephalopathy due to sulfite oxidase deficiency	Isolated sulfite oxidase deficiency
Orphanet:108987	Orphanet:833	\N	"" []	Orphanet:99731	"" []	581103	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Isolated sulfite oxidase deficiency
Orphanet:139009	Orphanet:833	\N	"" []	Orphanet:99731	"" []	581104	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Isolated sulfite oxidase deficiency
Orphanet:68385	Orphanet:833	\N	"" []	Orphanet:99731	"" []	581105	\N	\N	EFO	2	EFO	Neurometabolic disease	Isolated sulfite oxidase deficiency
Orphanet:79173	Orphanet:833	\N	"" []	Orphanet:99731	"" []	581106	\N	\N	EFO	2	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Isolated sulfite oxidase deficiency
Orphanet:98653	Orphanet:833	\N	"" []	Orphanet:99731	"" []	581107	\N	\N	EFO	2	EFO	Lens position anomaly	Isolated sulfite oxidase deficiency
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:99731	"" []	1165127	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Isolated sulfite oxidase deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:99731	"" []	1165128	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Isolated sulfite oxidase deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:99731	"" []	1165129	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Isolated sulfite oxidase deficiency
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:99731	"" []	1165130	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Isolated sulfite oxidase deficiency
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:99731	"" []	1165131	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Isolated sulfite oxidase deficiency
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:99731	"" []	2049107	\N	\N	EFO	4	EFO	Rare genetic eye disease	Isolated sulfite oxidase deficiency
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:99731	"" []	2049108	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Isolated sulfite oxidase deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99731	"" []	3199199	\N	\N	EFO	5	EFO	genetic disorder	Isolated sulfite oxidase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99731	"" []	2049110	\N	\N	EFO	4	EFO	genetic disorder	Isolated sulfite oxidase deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:99731	"" []	2049111	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Isolated sulfite oxidase deficiency
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:99731	"" []	2049112	\N	\N	EFO	4	EFO	Rare genetic eye disease	Isolated sulfite oxidase deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99731	"" []	3199197	\N	\N	EFO	5	EFO	genetic disorder	Isolated sulfite oxidase deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99731	"" []	3199198	\N	\N	EFO	5	EFO	eye disease	Isolated sulfite oxidase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99731	"" []	4134599	\N	\N	EFO	6	EFO	disease	Isolated sulfite oxidase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99731	"" []	3199201	\N	\N	EFO	5	EFO	genetic disorder	Isolated sulfite oxidase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99731	"" []	3199202	\N	\N	EFO	5	EFO	metabolic disease	Isolated sulfite oxidase deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99731	"" []	4404439	\N	\N	EFO	6	EFO	disease	Isolated sulfite oxidase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99731	"" []	5183832	\N	\N	EFO	7	EFO	disposition	Isolated sulfite oxidase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99731	"" []	4404441	\N	\N	EFO	6	EFO	disease	Isolated sulfite oxidase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99731	"" []	5999141	\N	\N	EFO	8	EFO	material property	Isolated sulfite oxidase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99731	"" []	6552094	\N	\N	EFO	9	EFO	experimental factor	Isolated sulfite oxidase deficiency
Orphanet:99732	\N	\N	"" []	Orphanet:99732	"" []	79227	\N	\N	EFO	0	EFO	Sulfite oxidase deficiency due to molybdenum cofactor deficiency	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:309833	Orphanet:99732	\N	"" []	Orphanet:99732	"" []	224276	\N	\N	EFO	1	EFO	Disorder of other vitamins and cofactors metabolism and transport	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:833	Orphanet:99732	\N	"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." []	Orphanet:99732	"" []	224277	\N	\N	EFO	1	EFO	Encephalopathy due to sulfite oxidase deficiency	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:309827	Orphanet:309833	\N	"" []	Orphanet:99732	"" []	581108	\N	\N	EFO	2	EFO	Disorder of vitamin and non-protein cofactor absorption and transport	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:108987	Orphanet:833	\N	"" []	Orphanet:99732	"" []	581109	\N	\N	EFO	2	EFO	Syndromic developmental defect of the eye	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:139009	Orphanet:833	\N	"" []	Orphanet:99732	"" []	581110	\N	\N	EFO	2	EFO	Developmental anomaly of metabolic origin	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:68385	Orphanet:833	\N	"" []	Orphanet:99732	"" []	581111	\N	\N	EFO	2	EFO	Neurometabolic disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:79173	Orphanet:833	\N	"" []	Orphanet:99732	"" []	581112	\N	\N	EFO	2	EFO	Disorder of methionine cycle and sulfur amino acid metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:98653	Orphanet:833	\N	"" []	Orphanet:99732	"" []	581113	\N	\N	EFO	2	EFO	Lens position anomaly	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:309824	Orphanet:309827	\N	"" []	Orphanet:99732	"" []	1165132	\N	\N	EFO	3	EFO	Disorder of metabolite absorption and transport	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:99732	"" []	1165133	\N	\N	EFO	3	EFO	Genetic developmental defect of the eye	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:99732	"" []	1165134	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:99732	"" []	1165135	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:79062	Orphanet:79173	\N	"" []	Orphanet:99732	"" []	1165136	\N	\N	EFO	3	EFO	Disorder of amino acid and other organic acid metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:183607	Orphanet:98653	\N	"" []	Orphanet:99732	"" []	1165137	\N	\N	EFO	3	EFO	Genetic lens and zonula anomaly	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:68367	Orphanet:309824	\N	"" []	Orphanet:99732	"" []	2049113	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:99732	"" []	2049114	\N	\N	EFO	4	EFO	Rare genetic eye disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:99732	"" []	2049115	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99732	"" []	3199207	\N	\N	EFO	5	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99732	"" []	2049117	\N	\N	EFO	4	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:68367	Orphanet:79062	\N	"" []	Orphanet:99732	"" []	2049118	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:101435	Orphanet:183607	\N	"" []	Orphanet:99732	"" []	2049119	\N	\N	EFO	4	EFO	Rare genetic eye disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99732	"" []	3199203	\N	\N	EFO	5	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99732	"" []	3199204	\N	\N	EFO	5	EFO	metabolic disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99732	"" []	3199205	\N	\N	EFO	5	EFO	genetic disorder	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99732	"" []	3199206	\N	\N	EFO	5	EFO	eye disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99732	"" []	4134600	\N	\N	EFO	6	EFO	disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99732	"" []	4404442	\N	\N	EFO	6	EFO	disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99732	"" []	4404443	\N	\N	EFO	6	EFO	disease	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99732	"" []	5183833	\N	\N	EFO	7	EFO	disposition	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99732	"" []	5999142	\N	\N	EFO	8	EFO	material property	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99732	"" []	6552095	\N	\N	EFO	9	EFO	experimental factor	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Orphanet:99734	\N	\N	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	79228	\N	\N	EFO	0	EFO	Myotonia fluctuans	Myotonia fluctuans
Orphanet:612	Orphanet:99734	\N	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	224278	\N	\N	EFO	1	EFO	Potassium-aggravated myotonia	Myotonia fluctuans
Orphanet:206970	Orphanet:612	\N	"" []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	581114	\N	\N	EFO	2	EFO	Myotonic syndrome	Myotonia fluctuans
Orphanet:352298	Orphanet:612	\N	"" []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	581115	\N	\N	EFO	2	EFO	Genetic muscular channelopathy	Myotonia fluctuans
Orphanet:206634	Orphanet:206970	\N	"" []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	1165138	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Myotonia fluctuans
Orphanet:183497	Orphanet:352298	\N	"" []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	1165139	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Myotonia fluctuans
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	2049120	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Myotonia fluctuans
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	3199209	\N	\N	EFO	5	EFO	muscular disease	Myotonia fluctuans
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	3199210	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Myotonia fluctuans
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	4134601	\N	\N	EFO	6	EFO	skeletal system disease	Myotonia fluctuans
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	4134602	\N	\N	EFO	6	EFO	genetic disorder	Myotonia fluctuans
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	5183834	\N	\N	EFO	7	EFO	disease	Myotonia fluctuans
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	5183835	\N	\N	EFO	7	EFO	disease	Myotonia fluctuans
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	5999143	\N	\N	EFO	8	EFO	disposition	Myotonia fluctuans
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	6552096	\N	\N	EFO	9	EFO	material property	Myotonia fluctuans
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99734	"Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." []	6889673	\N	\N	EFO	10	EFO	experimental factor	Myotonia fluctuans
Orphanet:99735	\N	\N	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	79229	\N	\N	EFO	0	EFO	Myotonia permanens	Myotonia permanens
Orphanet:612	Orphanet:99735	\N	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	224279	\N	\N	EFO	1	EFO	Potassium-aggravated myotonia	Myotonia permanens
Orphanet:206970	Orphanet:612	\N	"" []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	581116	\N	\N	EFO	2	EFO	Myotonic syndrome	Myotonia permanens
Orphanet:352298	Orphanet:612	\N	"" []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	581117	\N	\N	EFO	2	EFO	Genetic muscular channelopathy	Myotonia permanens
Orphanet:206634	Orphanet:206970	\N	"" []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	1165140	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Myotonia permanens
Orphanet:183497	Orphanet:352298	\N	"" []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	1165141	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Myotonia permanens
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	2049123	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Myotonia permanens
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	3199213	\N	\N	EFO	5	EFO	muscular disease	Myotonia permanens
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	3199214	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Myotonia permanens
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	4134603	\N	\N	EFO	6	EFO	skeletal system disease	Myotonia permanens
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	4134604	\N	\N	EFO	6	EFO	genetic disorder	Myotonia permanens
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	5183836	\N	\N	EFO	7	EFO	disease	Myotonia permanens
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	5183837	\N	\N	EFO	7	EFO	disease	Myotonia permanens
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	5999144	\N	\N	EFO	8	EFO	disposition	Myotonia permanens
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	6552097	\N	\N	EFO	9	EFO	material property	Myotonia permanens
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99735	"Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." []	6889674	\N	\N	EFO	10	EFO	experimental factor	Myotonia permanens
Orphanet:99736	\N	\N	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	79230	\N	\N	EFO	0	EFO	Acetazolamide-responsive myotonia	Acetazolamide-responsive myotonia
Orphanet:612	Orphanet:99736	\N	"Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	224280	\N	\N	EFO	1	EFO	Potassium-aggravated myotonia	Acetazolamide-responsive myotonia
Orphanet:206970	Orphanet:612	\N	"" []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	581118	\N	\N	EFO	2	EFO	Myotonic syndrome	Acetazolamide-responsive myotonia
Orphanet:352298	Orphanet:612	\N	"" []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	581119	\N	\N	EFO	2	EFO	Genetic muscular channelopathy	Acetazolamide-responsive myotonia
Orphanet:206634	Orphanet:206970	\N	"" []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	1165142	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	Acetazolamide-responsive myotonia
Orphanet:183497	Orphanet:352298	\N	"" []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	1165143	\N	\N	EFO	3	EFO	Genetic neuromuscular disease	Acetazolamide-responsive myotonia
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	2049126	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	Acetazolamide-responsive myotonia
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	3199217	\N	\N	EFO	5	EFO	muscular disease	Acetazolamide-responsive myotonia
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	3199218	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Acetazolamide-responsive myotonia
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	4134605	\N	\N	EFO	6	EFO	skeletal system disease	Acetazolamide-responsive myotonia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	4134606	\N	\N	EFO	6	EFO	genetic disorder	Acetazolamide-responsive myotonia
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	5183838	\N	\N	EFO	7	EFO	disease	Acetazolamide-responsive myotonia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	5183839	\N	\N	EFO	7	EFO	disease	Acetazolamide-responsive myotonia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	5999145	\N	\N	EFO	8	EFO	disposition	Acetazolamide-responsive myotonia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	6552098	\N	\N	EFO	9	EFO	material property	Acetazolamide-responsive myotonia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99736	"Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." []	6889675	\N	\N	EFO	10	EFO	experimental factor	Acetazolamide-responsive myotonia
Orphanet:99739	\N	\N	"" []	Orphanet:99739	"" []	79231	\N	\N	EFO	0	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Rare familial disorder with hypertrophic cardiomyopathy
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:99739	"" []	224281	\N	\N	EFO	1	EFO	Rare genetic cardiac disease	Rare familial disorder with hypertrophic cardiomyopathy
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99739	"" []	581120	\N	\N	EFO	2	EFO	genetic disorder	Rare familial disorder with hypertrophic cardiomyopathy
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:99739	"" []	581121	\N	\N	EFO	2	EFO	heart disease	Rare familial disorder with hypertrophic cardiomyopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99739	"" []	1165144	\N	\N	EFO	3	EFO	disease	Rare familial disorder with hypertrophic cardiomyopathy
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:99739	"" []	1165145	\N	\N	EFO	3	EFO	cardiovascular disease	Rare familial disorder with hypertrophic cardiomyopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99739	"" []	3199222	\N	\N	EFO	5	EFO	disposition	Rare familial disorder with hypertrophic cardiomyopathy
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99739	"" []	2049130	\N	\N	EFO	4	EFO	disease	Rare familial disorder with hypertrophic cardiomyopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99739	"" []	4134607	\N	\N	EFO	6	EFO	material property	Rare familial disorder with hypertrophic cardiomyopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99739	"" []	5183840	\N	\N	EFO	7	EFO	experimental factor	Rare familial disorder with hypertrophic cardiomyopathy
Orphanet:99741	\N	\N	"" []	Orphanet:99741	"" []	79232	\N	\N	EFO	0	EFO	King-Denborough syndrome	King-Denborough syndrome
Orphanet:108987	Orphanet:99741	\N	"" []	Orphanet:99741	"" []	224282	\N	\N	EFO	1	EFO	Syndromic developmental defect of the eye	King-Denborough syndrome
Orphanet:183570	Orphanet:99741	\N	"" []	Orphanet:99741	"" []	224283	\N	\N	EFO	1	EFO	Genetic malformation syndrome with short stature	King-Denborough syndrome
Orphanet:330197	Orphanet:99741	\N	"" []	Orphanet:99741	"" []	224284	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	King-Denborough syndrome
Orphanet:97245	Orphanet:99741	\N	"" []	Orphanet:99741	"" []	224285	\N	\N	EFO	1	EFO	Congenital myopathy	King-Denborough syndrome
Orphanet:183557	Orphanet:108987	\N	"" []	Orphanet:99741	"" []	581122	\N	\N	EFO	2	EFO	Genetic developmental defect of the eye	King-Denborough syndrome
Orphanet:183530	Orphanet:183570	\N	"" []	Orphanet:99741	"" []	581123	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	King-Denborough syndrome
Orphanet:183533	Orphanet:330197	\N	"" []	Orphanet:99741	"" []	581124	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	King-Denborough syndrome
Orphanet:206656	Orphanet:97245	\N	"" []	Orphanet:99741	"" []	581125	\N	\N	EFO	2	EFO	Non-dystrophic myopathy	King-Denborough syndrome
Orphanet:101435	Orphanet:183557	\N	"" []	Orphanet:99741	"" []	1165146	\N	\N	EFO	3	EFO	Rare genetic eye disease	King-Denborough syndrome
Orphanet:183530	Orphanet:183557	\N	"" []	Orphanet:99741	"" []	1165147	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	King-Denborough syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99741	"" []	2049133	\N	\N	EFO	4	EFO	genetic disorder	King-Denborough syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:99741	"" []	1165149	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	King-Denborough syndrome
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:99741	"" []	1165150	\N	\N	EFO	3	EFO	Genetic skeletal muscle disease	King-Denborough syndrome
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99741	"" []	2049131	\N	\N	EFO	4	EFO	genetic disorder	King-Denborough syndrome
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99741	"" []	2049132	\N	\N	EFO	4	EFO	eye disease	King-Denborough syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99741	"" []	5420050	\N	\N	EFO	7	EFO	disease	King-Denborough syndrome
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:99741	"" []	2049135	\N	\N	EFO	4	EFO	Genetic neuromuscular disease	King-Denborough syndrome
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99741	"" []	3199223	\N	\N	EFO	5	EFO	disease	King-Denborough syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99741	"" []	5817944	\N	\N	EFO	8	EFO	disposition	King-Denborough syndrome
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:99741	"" []	3199225	\N	\N	EFO	5	EFO	muscular disease	King-Denborough syndrome
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:99741	"" []	3199226	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	King-Denborough syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99741	"" []	6410495	\N	\N	EFO	9	EFO	material property	King-Denborough syndrome
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:99741	"" []	4404453	\N	\N	EFO	6	EFO	skeletal system disease	King-Denborough syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99741	"" []	4404454	\N	\N	EFO	6	EFO	genetic disorder	King-Denborough syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99741	"" []	6808288	\N	\N	EFO	10	EFO	experimental factor	King-Denborough syndrome
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99741	"" []	5420049	\N	\N	EFO	7	EFO	disease	King-Denborough syndrome
Orphanet:99742	\N	\N	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	Orphanet:99742	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	79233	\N	\N	EFO	0	EFO	Amish lethal microcephaly	Amish lethal microcephaly
Orphanet:269528	Orphanet:99742	\N	"" []	Orphanet:99742	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	224286	\N	\N	EFO	1	EFO	Syndrome with microcephaly as major feature	Amish lethal microcephaly
Orphanet:269564	Orphanet:269528	\N	"" []	Orphanet:99742	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	581126	\N	\N	EFO	2	EFO	Genetic syndrome with a central nervous system malformation as major feature	Amish lethal microcephaly
Orphanet:183506	Orphanet:269564	\N	"" []	Orphanet:99742	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	1165151	\N	\N	EFO	3	EFO	Genetic central nervous system malformation	Amish lethal microcephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:99742	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	2049136	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Amish lethal microcephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:99742	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	2049137	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Amish lethal microcephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99742	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	3199227	\N	\N	EFO	5	EFO	genetic disorder	Amish lethal microcephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99742	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	3199228	\N	\N	EFO	5	EFO	genetic disorder	Amish lethal microcephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99742	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	4404455	\N	\N	EFO	6	EFO	disease	Amish lethal microcephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99742	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	5420051	\N	\N	EFO	7	EFO	disposition	Amish lethal microcephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99742	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	6154059	\N	\N	EFO	8	EFO	material property	Amish lethal microcephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99742	"Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." []	6634734	\N	\N	EFO	9	EFO	experimental factor	Amish lethal microcephaly
Orphanet:99749	\N	\N	"" []	Orphanet:99749	"" []	79234	\N	\N	EFO	0	EFO	Kostmann syndrome	Kostmann syndrome
Orphanet:140162	Orphanet:99749	\N	"" []	Orphanet:99749	"" []	224287	\N	\N	EFO	1	EFO	Inherited cancer-predisposing syndrome	Kostmann syndrome
Orphanet:42738	Orphanet:99749	\N	"" []	Orphanet:99749	"" []	224288	\N	\N	EFO	1	EFO	Severe congenital neutropenia	Kostmann syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99749	"" []	581127	\N	\N	EFO	2	EFO	genetic disorder	Kostmann syndrome
Orphanet:101987	Orphanet:42738	\N	"" []	Orphanet:99749	"" []	581128	\N	\N	EFO	2	EFO	Constitutional neutropenia	Kostmann syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99749	"" []	5420052	\N	\N	EFO	7	EFO	disease	Kostmann syndrome
Orphanet:101988	Orphanet:101987	\N	"" []	Orphanet:99749	"" []	1165153	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Kostmann syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99749	"" []	5801912	\N	\N	EFO	8	EFO	disposition	Kostmann syndrome
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:99749	"" []	2049139	\N	\N	EFO	4	EFO	Primary immunodeficiency	Kostmann syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99749	"" []	6379037	\N	\N	EFO	9	EFO	material property	Kostmann syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:99749	"" []	3199230	\N	\N	EFO	5	EFO	Rare genetic immune disease	Kostmann syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99749	"" []	6778878	\N	\N	EFO	10	EFO	experimental factor	Kostmann syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99749	"" []	4404457	\N	\N	EFO	6	EFO	genetic disorder	Kostmann syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:99749	"" []	4404458	\N	\N	EFO	6	EFO	immune system disease	Kostmann syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99749	"" []	5420053	\N	\N	EFO	7	EFO	disease	Kostmann syndrome
Orphanet:99750	\N	\N	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	79235	\N	\N	EFO	0	EFO	Atypical progressive supranuclear palsy	Atypical progressive supranuclear palsy
Orphanet:683	Orphanet:99750	\N	"Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	224289	\N	\N	EFO	1	EFO	Progressive supranuclear palsy	Atypical progressive supranuclear palsy
EFO:0005815	Orphanet:683	\N	"Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	581129	\N	\N	EFO	2	EFO	tauopathy	Atypical progressive supranuclear palsy
Orphanet:276061	Orphanet:683	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	581130	\N	\N	EFO	2	EFO	Genetic frontotemporal degeneration with dementia	Atypical progressive supranuclear palsy
Orphanet:306708	Orphanet:683	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	581131	\N	\N	EFO	2	EFO	Frontotemporal neurodegeneration with movement disorder	Atypical progressive supranuclear palsy
Orphanet:98687	Orphanet:683	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	581132	\N	\N	EFO	2	EFO	Supranuclear oculomotor palsy	Atypical progressive supranuclear palsy
EFO:0005772	EFO:0005815	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	1165154	\N	\N	EFO	3	EFO	neurodegenerative disease	Atypical progressive supranuclear palsy
Orphanet:276058	Orphanet:276061	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	1165155	\N	\N	EFO	3	EFO	Genetic neurodegenerative disease with dementia	Atypical progressive supranuclear palsy
Orphanet:307058	Orphanet:306708	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	1165156	\N	\N	EFO	3	EFO	Miscellaneous movement disorder due to genetic neurodegenerative disease	Atypical progressive supranuclear palsy
Orphanet:98685	Orphanet:98687	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	1165157	\N	\N	EFO	3	EFO	Oculomotor palsy	Atypical progressive supranuclear palsy
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	4404462	\N	\N	EFO	6	EFO	nervous system disease	Atypical progressive supranuclear palsy
Orphanet:158124	Orphanet:276058	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	2049141	\N	\N	EFO	4	EFO	Genetic dementia	Atypical progressive supranuclear palsy
Orphanet:183500	Orphanet:276058	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	2049142	\N	\N	EFO	4	EFO	Genetic neurodegenerative disease	Atypical progressive supranuclear palsy
EFO:0005772	Orphanet:307058	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	2049143	\N	\N	EFO	4	EFO	neurodegenerative disease	Atypical progressive supranuclear palsy
Orphanet:183521	Orphanet:307058	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	2049144	\N	\N	EFO	4	EFO	Rare genetic movement disorder	Atypical progressive supranuclear palsy
EFO:1000631	Orphanet:98685	\N	"various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	2049145	\N	\N	EFO	4	EFO	palsy	Atypical progressive supranuclear palsy
Orphanet:183616	Orphanet:98685	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	2049146	\N	\N	EFO	4	EFO	Genetic neuro-ophthalmological disease	Atypical progressive supranuclear palsy
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	5060372	\N	\N	EFO	7	EFO	disease	Atypical progressive supranuclear palsy
EFO:0005774	Orphanet:158124	\N	"A disease affecting the brain or part of the brain." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	3199232	\N	\N	EFO	5	EFO	brain disease	Atypical progressive supranuclear palsy
Orphanet:71859	Orphanet:158124	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	3199233	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Atypical progressive supranuclear palsy
EFO:0005772	Orphanet:183500	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	3199234	\N	\N	EFO	5	EFO	neurodegenerative disease	Atypical progressive supranuclear palsy
EFO:0005774	Orphanet:183500	\N	"A disease affecting the brain or part of the brain." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	3199235	\N	\N	EFO	5	EFO	brain disease	Atypical progressive supranuclear palsy
Orphanet:71859	Orphanet:183500	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	3199236	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Atypical progressive supranuclear palsy
EFO:0004280	Orphanet:183521	\N	"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	3199238	\N	\N	EFO	5	EFO	movement disorder	Atypical progressive supranuclear palsy
Orphanet:71859	Orphanet:183521	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	3199239	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Atypical progressive supranuclear palsy
EFO:0000618	EFO:1000631	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	3199240	\N	\N	EFO	5	EFO	nervous system disease	Atypical progressive supranuclear palsy
Orphanet:101435	Orphanet:183616	\N	"" []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	3199241	\N	\N	EFO	5	EFO	Rare genetic eye disease	Atypical progressive supranuclear palsy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	5877951	\N	\N	EFO	8	EFO	disposition	Atypical progressive supranuclear palsy
EFO:0000618	EFO:0005774	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	4404460	\N	\N	EFO	6	EFO	nervous system disease	Atypical progressive supranuclear palsy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	4404461	\N	\N	EFO	6	EFO	genetic disorder	Atypical progressive supranuclear palsy
EFO:0000618	EFO:0004280	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	4404463	\N	\N	EFO	6	EFO	nervous system disease	Atypical progressive supranuclear palsy
EFO:0000508	Orphanet:101435	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	4404464	\N	\N	EFO	6	EFO	genetic disorder	Atypical progressive supranuclear palsy
EFO:0003966	Orphanet:101435	\N	"An eye and adnexa disease that is located in the eye." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	4404465	\N	\N	EFO	6	EFO	eye disease	Atypical progressive supranuclear palsy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	6471177	\N	\N	EFO	9	EFO	material property	Atypical progressive supranuclear palsy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	5420055	\N	\N	EFO	7	EFO	disease	Atypical progressive supranuclear palsy
EFO:0000408	EFO:0003966	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	5420056	\N	\N	EFO	7	EFO	disease	Atypical progressive supranuclear palsy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99750	"Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." []	6848961	\N	\N	EFO	10	EFO	experimental factor	Atypical progressive supranuclear palsy
Orphanet:99763	\N	\N	"" []	Orphanet:99763	"" []	79236	\N	\N	EFO	0	EFO	Familial hyperreninemic hypoaldosteronism type 1	Familial hyperreninemic hypoaldosteronism type 1
Orphanet:427	Orphanet:99763	\N	"" []	Orphanet:99763	"" []	224290	\N	\N	EFO	1	EFO	Familial hypoaldosteronism	Familial hyperreninemic hypoaldosteronism type 1
Orphanet:183637	Orphanet:427	\N	"" []	Orphanet:99763	"" []	581133	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Familial hyperreninemic hypoaldosteronism type 1
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:99763	"" []	1165158	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial hyperreninemic hypoaldosteronism type 1
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99763	"" []	2049147	\N	\N	EFO	4	EFO	genetic disorder	Familial hyperreninemic hypoaldosteronism type 1
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99763	"" []	2049148	\N	\N	EFO	4	EFO	endocrine system disease	Familial hyperreninemic hypoaldosteronism type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99763	"" []	3199242	\N	\N	EFO	5	EFO	disease	Familial hyperreninemic hypoaldosteronism type 1
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99763	"" []	3199243	\N	\N	EFO	5	EFO	disease	Familial hyperreninemic hypoaldosteronism type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99763	"" []	4404466	\N	\N	EFO	6	EFO	disposition	Familial hyperreninemic hypoaldosteronism type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99763	"" []	5420057	\N	\N	EFO	7	EFO	material property	Familial hyperreninemic hypoaldosteronism type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99763	"" []	6154061	\N	\N	EFO	8	EFO	experimental factor	Familial hyperreninemic hypoaldosteronism type 1
Orphanet:99764	\N	\N	"" []	Orphanet:99764	"" []	79237	\N	\N	EFO	0	EFO	Familial hyperreninemic hypoaldosteronism type 2	Familial hyperreninemic hypoaldosteronism type 2
Orphanet:427	Orphanet:99764	\N	"" []	Orphanet:99764	"" []	224291	\N	\N	EFO	1	EFO	Familial hypoaldosteronism	Familial hyperreninemic hypoaldosteronism type 2
Orphanet:183637	Orphanet:427	\N	"" []	Orphanet:99764	"" []	581134	\N	\N	EFO	2	EFO	Rare genetic adrenal disease	Familial hyperreninemic hypoaldosteronism type 2
Orphanet:156638	Orphanet:183637	\N	"" []	Orphanet:99764	"" []	1165159	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial hyperreninemic hypoaldosteronism type 2
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99764	"" []	2049149	\N	\N	EFO	4	EFO	genetic disorder	Familial hyperreninemic hypoaldosteronism type 2
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99764	"" []	2049150	\N	\N	EFO	4	EFO	endocrine system disease	Familial hyperreninemic hypoaldosteronism type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99764	"" []	3199244	\N	\N	EFO	5	EFO	disease	Familial hyperreninemic hypoaldosteronism type 2
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99764	"" []	3199245	\N	\N	EFO	5	EFO	disease	Familial hyperreninemic hypoaldosteronism type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99764	"" []	4404467	\N	\N	EFO	6	EFO	disposition	Familial hyperreninemic hypoaldosteronism type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99764	"" []	5420058	\N	\N	EFO	7	EFO	material property	Familial hyperreninemic hypoaldosteronism type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99764	"" []	6154062	\N	\N	EFO	8	EFO	experimental factor	Familial hyperreninemic hypoaldosteronism type 2
Orphanet:99776	\N	\N	"" []	Orphanet:99776	"" []	79238	\N	\N	EFO	0	EFO	Mosaic trisomy 9	Mosaic trisomy 9
Orphanet:98131	Orphanet:99776	\N	"" []	Orphanet:99776	"" []	224292	\N	\N	EFO	1	EFO	Total autosomal trisomy	Mosaic trisomy 9
Orphanet:98130	Orphanet:98131	\N	"" []	Orphanet:99776	"" []	581135	\N	\N	EFO	2	EFO	Autosomal trisomy	Mosaic trisomy 9
Orphanet:98127	Orphanet:98130	\N	"" []	Orphanet:99776	"" []	1165160	\N	\N	EFO	3	EFO	Autosomal anomaly	Mosaic trisomy 9
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:99776	"" []	2049151	\N	\N	EFO	4	EFO	Chromosomal anomaly	Mosaic trisomy 9
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99776	"" []	3199246	\N	\N	EFO	5	EFO	genetic disorder	Mosaic trisomy 9
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99776	"" []	4404468	\N	\N	EFO	6	EFO	disease	Mosaic trisomy 9
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99776	"" []	5420059	\N	\N	EFO	7	EFO	disposition	Mosaic trisomy 9
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99776	"" []	6154063	\N	\N	EFO	8	EFO	material property	Mosaic trisomy 9
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99776	"" []	6634735	\N	\N	EFO	9	EFO	experimental factor	Mosaic trisomy 9
Orphanet:99789	\N	\N	"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." []	Orphanet:99789	"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." []	79239	\N	\N	EFO	0	EFO	Dentin dysplasia type I	Dentin dysplasia type I
Orphanet:1653	Orphanet:99789	\N	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	Orphanet:99789	"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." []	224293	\N	\N	EFO	1	EFO	Dentin dysplasia	Dentin dysplasia type I
Orphanet:167759	Orphanet:1653	\N	"" []	Orphanet:99789	"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." []	581136	\N	\N	EFO	2	EFO	Hereditary dentin defect	Dentin dysplasia type I
Orphanet:164001	Orphanet:167759	\N	"" []	Orphanet:99789	"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." []	1165161	\N	\N	EFO	3	EFO	Rare odontal or periodontal disorder	Dentin dysplasia type I
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:99789	"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." []	2049152	\N	\N	EFO	4	EFO	Rare genetic odontologic disease	Dentin dysplasia type I
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99789	"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." []	3199247	\N	\N	EFO	5	EFO	genetic disorder	Dentin dysplasia type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99789	"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." []	4404469	\N	\N	EFO	6	EFO	disease	Dentin dysplasia type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99789	"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." []	5420060	\N	\N	EFO	7	EFO	disposition	Dentin dysplasia type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99789	"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." []	6154064	\N	\N	EFO	8	EFO	material property	Dentin dysplasia type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99789	"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." []	6634736	\N	\N	EFO	9	EFO	experimental factor	Dentin dysplasia type I
Orphanet:99791	\N	\N	"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." []	Orphanet:99791	"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." []	79240	\N	\N	EFO	0	EFO	Dentin dysplasia type II	Dentin dysplasia type II
Orphanet:1653	Orphanet:99791	\N	"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." []	Orphanet:99791	"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." []	224294	\N	\N	EFO	1	EFO	Dentin dysplasia	Dentin dysplasia type II
Orphanet:167759	Orphanet:1653	\N	"" []	Orphanet:99791	"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." []	581137	\N	\N	EFO	2	EFO	Hereditary dentin defect	Dentin dysplasia type II
Orphanet:164001	Orphanet:167759	\N	"" []	Orphanet:99791	"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." []	1165162	\N	\N	EFO	3	EFO	Rare odontal or periodontal disorder	Dentin dysplasia type II
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:99791	"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." []	2049153	\N	\N	EFO	4	EFO	Rare genetic odontologic disease	Dentin dysplasia type II
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99791	"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." []	3199248	\N	\N	EFO	5	EFO	genetic disorder	Dentin dysplasia type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99791	"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." []	4404470	\N	\N	EFO	6	EFO	disease	Dentin dysplasia type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99791	"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." []	5420061	\N	\N	EFO	7	EFO	disposition	Dentin dysplasia type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99791	"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." []	6154065	\N	\N	EFO	8	EFO	material property	Dentin dysplasia type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99791	"Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." []	6634737	\N	\N	EFO	9	EFO	experimental factor	Dentin dysplasia type II
Orphanet:99792	\N	\N	"" []	Orphanet:99792	"" []	79241	\N	\N	EFO	0	EFO	Dentin dysplasia - sclerotic bones	Dentin dysplasia - sclerotic bones
Orphanet:77830	Orphanet:99792	\N	"" []	Orphanet:99792	"" []	224295	\N	\N	EFO	1	EFO	Rare genetic odontologic disease	Dentin dysplasia - sclerotic bones
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99792	"" []	581138	\N	\N	EFO	2	EFO	genetic disorder	Dentin dysplasia - sclerotic bones
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99792	"" []	1165163	\N	\N	EFO	3	EFO	disease	Dentin dysplasia - sclerotic bones
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99792	"" []	2049154	\N	\N	EFO	4	EFO	disposition	Dentin dysplasia - sclerotic bones
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99792	"" []	3199249	\N	\N	EFO	5	EFO	material property	Dentin dysplasia - sclerotic bones
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99792	"" []	4404471	\N	\N	EFO	6	EFO	experimental factor	Dentin dysplasia - sclerotic bones
Orphanet:99796	\N	\N	"" []	Orphanet:99796	"" []	79242	\N	\N	EFO	0	EFO	Subcortical band heterotopia	Subcortical band heterotopia
Orphanet:163209	Orphanet:99796	\N	"" []	Orphanet:99796	"" []	224296	\N	\N	EFO	1	EFO	Non-syndromic cerebral malformation due to abnormal neuronal migration	Subcortical band heterotopia
Orphanet:166478	Orphanet:163209	\N	"" []	Orphanet:99796	"" []	581139	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Subcortical band heterotopia
Orphanet:269553	Orphanet:163209	\N	"" []	Orphanet:99796	"" []	581140	\N	\N	EFO	2	EFO	Genetic cerebral malformation	Subcortical band heterotopia
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:99796	"" []	1165164	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Subcortical band heterotopia
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:99796	"" []	1165165	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Subcortical band heterotopia
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:99796	"" []	2049155	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Subcortical band heterotopia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:99796	"" []	2049156	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Subcortical band heterotopia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99796	"" []	4404474	\N	\N	EFO	6	EFO	genetic disorder	Subcortical band heterotopia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:99796	"" []	3199251	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Subcortical band heterotopia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:99796	"" []	3199252	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Subcortical band heterotopia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99796	"" []	5183843	\N	\N	EFO	7	EFO	disease	Subcortical band heterotopia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99796	"" []	4404473	\N	\N	EFO	6	EFO	genetic disorder	Subcortical band heterotopia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99796	"" []	5999148	\N	\N	EFO	8	EFO	disposition	Subcortical band heterotopia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99796	"" []	6552100	\N	\N	EFO	9	EFO	material property	Subcortical band heterotopia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99796	"" []	6889676	\N	\N	EFO	10	EFO	experimental factor	Subcortical band heterotopia
Orphanet:99797	\N	\N	"Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." []	Orphanet:99797	"Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." []	79243	\N	\N	EFO	0	EFO	Anodontia	Anodontia
Orphanet:164001	Orphanet:99797	\N	"" []	Orphanet:99797	"Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." []	224297	\N	\N	EFO	1	EFO	Rare odontal or periodontal disorder	Anodontia
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:99797	"Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." []	581141	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Anodontia
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99797	"Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." []	1165166	\N	\N	EFO	3	EFO	genetic disorder	Anodontia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99797	"Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." []	2049157	\N	\N	EFO	4	EFO	disease	Anodontia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99797	"Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." []	3199253	\N	\N	EFO	5	EFO	disposition	Anodontia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99797	"Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." []	4404475	\N	\N	EFO	6	EFO	material property	Anodontia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99797	"Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." []	5420063	\N	\N	EFO	7	EFO	experimental factor	Anodontia
Orphanet:99798	\N	\N	"Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth." []	Orphanet:99798	"Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth." []	79244	\N	\N	EFO	0	EFO	Oligodontia	Oligodontia
Orphanet:164001	Orphanet:99798	\N	"" []	Orphanet:99798	"Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth." []	224298	\N	\N	EFO	1	EFO	Rare odontal or periodontal disorder	Oligodontia
Orphanet:77830	Orphanet:164001	\N	"" []	Orphanet:99798	"Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth." []	581142	\N	\N	EFO	2	EFO	Rare genetic odontologic disease	Oligodontia
EFO:0000508	Orphanet:77830	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99798	"Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth." []	1165167	\N	\N	EFO	3	EFO	genetic disorder	Oligodontia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99798	"Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth." []	2049158	\N	\N	EFO	4	EFO	disease	Oligodontia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99798	"Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth." []	3199254	\N	\N	EFO	5	EFO	disposition	Oligodontia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99798	"Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth." []	4404476	\N	\N	EFO	6	EFO	material property	Oligodontia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99798	"Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth." []	5420064	\N	\N	EFO	7	EFO	experimental factor	Oligodontia
Orphanet:998	\N	\N	"" []	Orphanet:998	"" []	79245	\N	\N	EFO	0	EFO	Albinism-deafness syndrome	Albinism-deafness syndrome
Orphanet:183469	Orphanet:998	\N	"" []	Orphanet:998	"" []	224299	\N	\N	EFO	1	EFO	Genetic hypopigmentation of the skin	Albinism-deafness syndrome
Orphanet:90642	Orphanet:998	\N	"" []	Orphanet:998	"" []	224300	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Albinism-deafness syndrome
Orphanet:183463	Orphanet:183469	\N	"" []	Orphanet:998	"" []	581143	\N	\N	EFO	2	EFO	Genetic pigmentation anomaly of the skin	Albinism-deafness syndrome
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:998	"" []	581144	\N	\N	EFO	2	EFO	Rare genetic deafness	Albinism-deafness syndrome
Orphanet:68346	Orphanet:183463	\N	"" []	Orphanet:998	"" []	1165168	\N	\N	EFO	3	EFO	Rare genetic skin disease	Albinism-deafness syndrome
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:998	"" []	1165169	\N	\N	EFO	3	EFO	genetic disorder	Albinism-deafness syndrome
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:998	"" []	1165170	\N	\N	EFO	3	EFO	auditory system disease	Albinism-deafness syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:998	"" []	2049159	\N	\N	EFO	4	EFO	genetic disorder	Albinism-deafness syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:998	"" []	2049160	\N	\N	EFO	4	EFO	skin disease	Albinism-deafness syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:998	"" []	3199255	\N	\N	EFO	5	EFO	disease	Albinism-deafness syndrome
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:998	"" []	2049162	\N	\N	EFO	4	EFO	sensory system disease	Albinism-deafness syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:998	"" []	3199256	\N	\N	EFO	5	EFO	disease	Albinism-deafness syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:998	"" []	5420066	\N	\N	EFO	7	EFO	disposition	Albinism-deafness syndrome
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:998	"" []	3199258	\N	\N	EFO	5	EFO	nervous system disease	Albinism-deafness syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:998	"" []	5877952	\N	\N	EFO	8	EFO	material property	Albinism-deafness syndrome
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:998	"" []	4404478	\N	\N	EFO	6	EFO	disease	Albinism-deafness syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:998	"" []	6471178	\N	\N	EFO	9	EFO	experimental factor	Albinism-deafness syndrome
Orphanet:99802	\N	\N	"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy." []	Orphanet:99802	"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy." []	79246	\N	\N	EFO	0	EFO	Hemimegalencephaly	Hemimegalencephaly
Orphanet:166478	Orphanet:99802	\N	"" []	Orphanet:99802	"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy." []	224301	\N	\N	EFO	1	EFO	Cerebral malformation with epilepsy	Hemimegalencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:99802	"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy." []	581145	\N	\N	EFO	2	EFO	Rare genetic epilepsy	Hemimegalencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:99802	"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy." []	1165171	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Hemimegalencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99802	"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy." []	2049163	\N	\N	EFO	4	EFO	genetic disorder	Hemimegalencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99802	"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy." []	3199259	\N	\N	EFO	5	EFO	disease	Hemimegalencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99802	"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy." []	4404479	\N	\N	EFO	6	EFO	disposition	Hemimegalencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99802	"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy." []	5420067	\N	\N	EFO	7	EFO	material property	Hemimegalencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99802	"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy." []	6154067	\N	\N	EFO	8	EFO	experimental factor	Hemimegalencephaly
Orphanet:99803	\N	\N	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	Orphanet:99803	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	79247	\N	\N	EFO	0	EFO	Haddad syndrome	Haddad syndrome
Orphanet:108969	Orphanet:99803	\N	"" []	Orphanet:99803	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	224302	\N	\N	EFO	1	EFO	Syndromic intestinal malformation	Haddad syndrome
Orphanet:71859	Orphanet:99803	\N	"" []	Orphanet:99803	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	224303	\N	\N	EFO	1	EFO	Rare genetic neurological disorder	Haddad syndrome
Orphanet:97945	Orphanet:108969	\N	"" []	Orphanet:99803	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	581146	\N	\N	EFO	2	EFO	Intestinal malformation	Haddad syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99803	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	581147	\N	\N	EFO	2	EFO	genetic disorder	Haddad syndrome
Orphanet:183545	Orphanet:97945	\N	"" []	Orphanet:99803	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	1165172	\N	\N	EFO	3	EFO	Genetic digestive tract malformation	Haddad syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99803	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	4404480	\N	\N	EFO	6	EFO	disease	Haddad syndrome
Orphanet:183530	Orphanet:183545	\N	"" []	Orphanet:99803	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	2049164	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Haddad syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99803	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	5028500	\N	\N	EFO	7	EFO	disposition	Haddad syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99803	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	3199260	\N	\N	EFO	5	EFO	genetic disorder	Haddad syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99803	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	5817945	\N	\N	EFO	8	EFO	material property	Haddad syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99803	"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." []	6410496	\N	\N	EFO	9	EFO	experimental factor	Haddad syndrome
Orphanet:99806	\N	\N	"" []	Orphanet:99806	"" []	79248	\N	\N	EFO	0	EFO	Oculootodental syndrome	Oculootodental syndrome
Orphanet:183580	Orphanet:99806	\N	"" []	Orphanet:99806	"" []	224304	\N	\N	EFO	1	EFO	Genetic malformation syndrome with odontal and/or periodontal component	Oculootodental syndrome
Orphanet:262092	Orphanet:99806	\N	"" []	Orphanet:99806	"" []	224305	\N	\N	EFO	1	EFO	Partial deletion of the long arm of chromosome 11	Oculootodental syndrome
Orphanet:183530	Orphanet:183580	\N	"" []	Orphanet:99806	"" []	581148	\N	\N	EFO	2	EFO	Rare genetic developmental defect during embryogenesis	Oculootodental syndrome
Orphanet:261816	Orphanet:262092	\N	"" []	Orphanet:99806	"" []	581149	\N	\N	EFO	2	EFO	Partial deletion of chromosome 11	Oculootodental syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99806	"" []	1165174	\N	\N	EFO	3	EFO	genetic disorder	Oculootodental syndrome
Orphanet:98142	Orphanet:261816	\N	"" []	Orphanet:99806	"" []	1165175	\N	\N	EFO	3	EFO	Partial autosomal monosomy	Oculootodental syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99806	"" []	6154068	\N	\N	EFO	8	EFO	disease	Oculootodental syndrome
Orphanet:102020	Orphanet:98142	\N	"" []	Orphanet:99806	"" []	2049167	\N	\N	EFO	4	EFO	Autosomal monosomy	Oculootodental syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99806	"" []	6379038	\N	\N	EFO	9	EFO	disposition	Oculootodental syndrome
Orphanet:98127	Orphanet:102020	\N	"" []	Orphanet:99806	"" []	3199263	\N	\N	EFO	5	EFO	Autosomal anomaly	Oculootodental syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99806	"" []	6778879	\N	\N	EFO	10	EFO	material property	Oculootodental syndrome
Orphanet:68335	Orphanet:98127	\N	"" []	Orphanet:99806	"" []	4404483	\N	\N	EFO	6	EFO	Chromosomal anomaly	Oculootodental syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99806	"" []	7030064	\N	\N	EFO	11	EFO	experimental factor	Oculootodental syndrome
EFO:0000508	Orphanet:68335	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99806	"" []	5420069	\N	\N	EFO	7	EFO	genetic disorder	Oculootodental syndrome
Orphanet:99807	\N	\N	"" []	Orphanet:99807	"" []	79249	\N	\N	EFO	0	EFO	PEHO-like syndrome	PEHO-like syndrome
Orphanet:166463	Orphanet:99807	\N	"" []	Orphanet:99807	"" []	224306	\N	\N	EFO	1	EFO	Epilepsy syndrome	PEHO-like syndrome
Orphanet:89832	Orphanet:99807	\N	"" []	Orphanet:99807	"" []	224307	\N	\N	EFO	1	EFO	Syndromic lymphedema	PEHO-like syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:99807	"" []	581150	\N	\N	EFO	2	EFO	Rare genetic epilepsy	PEHO-like syndrome
Orphanet:79383	Orphanet:89832	\N	"" []	Orphanet:99807	"" []	581151	\N	\N	EFO	2	EFO	Lymphedema	PEHO-like syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:99807	"" []	1165176	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	PEHO-like syndrome
Orphanet:68346	Orphanet:79383	\N	"" []	Orphanet:99807	"" []	1165177	\N	\N	EFO	3	EFO	Rare genetic skin disease	PEHO-like syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99807	"" []	2049168	\N	\N	EFO	4	EFO	genetic disorder	PEHO-like syndrome
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99807	"" []	2049169	\N	\N	EFO	4	EFO	genetic disorder	PEHO-like syndrome
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:99807	"" []	2049170	\N	\N	EFO	4	EFO	skin disease	PEHO-like syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99807	"" []	3199264	\N	\N	EFO	5	EFO	disease	PEHO-like syndrome
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99807	"" []	3199265	\N	\N	EFO	5	EFO	disease	PEHO-like syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99807	"" []	4404484	\N	\N	EFO	6	EFO	disposition	PEHO-like syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99807	"" []	5420070	\N	\N	EFO	7	EFO	material property	PEHO-like syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99807	"" []	6154069	\N	\N	EFO	8	EFO	experimental factor	PEHO-like syndrome
Orphanet:99810	\N	\N	"" []	Orphanet:99810	"" []	79250	\N	\N	EFO	0	EFO	Familial porencephaly	Familial porencephaly
Orphanet:2940	Orphanet:99810	\N	"" []	Orphanet:99810	"" []	224308	\N	\N	EFO	1	EFO	Porencephaly	Familial porencephaly
Orphanet:166478	Orphanet:2940	\N	"" []	Orphanet:99810	"" []	581152	\N	\N	EFO	2	EFO	Cerebral malformation with epilepsy	Familial porencephaly
Orphanet:269190	Orphanet:2940	\N	"" []	Orphanet:99810	"" []	581153	\N	\N	EFO	2	EFO	Encephaloclastic disorder	Familial porencephaly
Orphanet:183512	Orphanet:166478	\N	"" []	Orphanet:99810	"" []	1165178	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Familial porencephaly
Orphanet:269553	Orphanet:269190	\N	"" []	Orphanet:99810	"" []	1165179	\N	\N	EFO	3	EFO	Genetic cerebral malformation	Familial porencephaly
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:99810	"" []	2049171	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Familial porencephaly
Orphanet:269550	Orphanet:269553	\N	"" []	Orphanet:99810	"" []	2049172	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Familial porencephaly
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99810	"" []	5420073	\N	\N	EFO	7	EFO	genetic disorder	Familial porencephaly
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:99810	"" []	3199267	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Familial porencephaly
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99810	"" []	5877953	\N	\N	EFO	8	EFO	disease	Familial porencephaly
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:99810	"" []	4404486	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Familial porencephaly
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:99810	"" []	4404487	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Familial porencephaly
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99810	"" []	6471179	\N	\N	EFO	9	EFO	disposition	Familial porencephaly
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99810	"" []	5420072	\N	\N	EFO	7	EFO	genetic disorder	Familial porencephaly
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99810	"" []	6848962	\N	\N	EFO	10	EFO	material property	Familial porencephaly
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99810	"" []	7068591	\N	\N	EFO	11	EFO	experimental factor	Familial porencephaly
Orphanet:99811	\N	\N	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	Orphanet:99811	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	79251	\N	\N	EFO	0	EFO	Neuronal intestinal pseudoobstruction	Neuronal intestinal pseudoobstruction
Orphanet:2978	Orphanet:99811	\N	"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." []	Orphanet:99811	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	224309	\N	\N	EFO	1	EFO	Chronic intestinal pseudoobstruction	Neuronal intestinal pseudoobstruction
Orphanet:104009	Orphanet:2978	\N	"" []	Orphanet:99811	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	581154	\N	\N	EFO	2	EFO	Congenital intestinal motility disorder	Neuronal intestinal pseudoobstruction
Orphanet:165655	Orphanet:104009	\N	"" []	Orphanet:99811	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	1165180	\N	\N	EFO	3	EFO	Genetic intestinal disease	Neuronal intestinal pseudoobstruction
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:99811	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	2049173	\N	\N	EFO	4	EFO	digestive system disease	Neuronal intestinal pseudoobstruction
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:99811	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	2049174	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Neuronal intestinal pseudoobstruction
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99811	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	3199268	\N	\N	EFO	5	EFO	disease	Neuronal intestinal pseudoobstruction
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99811	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	3199269	\N	\N	EFO	5	EFO	genetic disorder	Neuronal intestinal pseudoobstruction
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99811	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	5420075	\N	\N	EFO	7	EFO	disposition	Neuronal intestinal pseudoobstruction
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99811	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	4404489	\N	\N	EFO	6	EFO	disease	Neuronal intestinal pseudoobstruction
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99811	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	5999150	\N	\N	EFO	8	EFO	material property	Neuronal intestinal pseudoobstruction
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99811	"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." []	6552101	\N	\N	EFO	9	EFO	experimental factor	Neuronal intestinal pseudoobstruction
Orphanet:99812	\N	\N	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	79252	\N	\N	EFO	0	EFO	LIG4 syndrome	LIG4 syndrome
Orphanet:101972	Orphanet:99812	\N	"" []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	224310	\N	\N	EFO	1	EFO	Combined T and B cell immunodeficiency	LIG4 syndrome
Orphanet:183422	Orphanet:99812	\N	"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	224311	\N	\N	EFO	1	EFO	Polymalformative genetic syndrome with increased risk of developing cancer	LIG4 syndrome
Orphanet:330206	Orphanet:99812	\N	"" []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	224312	\N	\N	EFO	1	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	LIG4 syndrome
Orphanet:179006	Orphanet:101972	\N	"" []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	581155	\N	\N	EFO	2	EFO	Primary immunodeficiency due to a defect in adaptive immunity	LIG4 syndrome
Orphanet:140162	Orphanet:183422	\N	"" []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	581156	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	LIG4 syndrome
Orphanet:183533	Orphanet:330206	\N	"" []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	581157	\N	\N	EFO	2	EFO	Genetic multiple congenital anomalies/dysmorphic syndrome	LIG4 syndrome
Orphanet:101997	Orphanet:179006	\N	"" []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	1165181	\N	\N	EFO	3	EFO	Primary immunodeficiency	LIG4 syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	1165182	\N	\N	EFO	3	EFO	genetic disorder	LIG4 syndrome
Orphanet:183530	Orphanet:183533	\N	"" []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	1165183	\N	\N	EFO	3	EFO	Rare genetic developmental defect during embryogenesis	LIG4 syndrome
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	2049175	\N	\N	EFO	4	EFO	Rare genetic immune disease	LIG4 syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	4404490	\N	\N	EFO	6	EFO	disease	LIG4 syndrome
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	2049177	\N	\N	EFO	4	EFO	genetic disorder	LIG4 syndrome
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	3199270	\N	\N	EFO	5	EFO	genetic disorder	LIG4 syndrome
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	3199271	\N	\N	EFO	5	EFO	immune system disease	LIG4 syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	5060373	\N	\N	EFO	7	EFO	disposition	LIG4 syndrome
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	4404491	\N	\N	EFO	6	EFO	disease	LIG4 syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	5877954	\N	\N	EFO	8	EFO	material property	LIG4 syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99812	"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." []	6471180	\N	\N	EFO	9	EFO	experimental factor	LIG4 syndrome
Orphanet:99817	\N	\N	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	79253	\N	\N	EFO	0	EFO	Non-polyposis Turcot syndrome	Non-polyposis Turcot syndrome
Orphanet:144	Orphanet:99817	\N	"Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms)." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	224313	\N	\N	EFO	1	EFO	Lynch syndrome	Non-polyposis Turcot syndrome
EFO:0004288	Orphanet:144	\N	"Tumors or cancer of the COLON." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	581158	\N	\N	EFO	2	EFO	colonic neoplasm	Non-polyposis Turcot syndrome
Orphanet:140162	Orphanet:144	\N	"" []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	581159	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Non-polyposis Turcot syndrome
Orphanet:271835	Orphanet:144	\N	"" []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	581160	\N	\N	EFO	2	EFO	Genetic digestive tract tumor	Non-polyposis Turcot syndrome
EFO:0000405	EFO:0004288	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	1165184	\N	\N	EFO	3	EFO	digestive system disease	Non-polyposis Turcot syndrome
EFO:0000616	EFO:0004288	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	1165185	\N	\N	EFO	3	EFO	neoplasm	Non-polyposis Turcot syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	1165186	\N	\N	EFO	3	EFO	genetic disorder	Non-polyposis Turcot syndrome
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	1165187	\N	\N	EFO	3	EFO	digestive system disease	Non-polyposis Turcot syndrome
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	1165188	\N	\N	EFO	3	EFO	Rare genetic tumor	Non-polyposis Turcot syndrome
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	2049178	\N	\N	EFO	4	EFO	disease	Non-polyposis Turcot syndrome
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	3199276	\N	\N	EFO	5	EFO	disease	Non-polyposis Turcot syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	3199275	\N	\N	EFO	5	EFO	disease	Non-polyposis Turcot syndrome
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	2049181	\N	\N	EFO	4	EFO	genetic disorder	Non-polyposis Turcot syndrome
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	2049182	\N	\N	EFO	4	EFO	neoplasm	Non-polyposis Turcot syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	4134612	\N	\N	EFO	6	EFO	disposition	Non-polyposis Turcot syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	5183846	\N	\N	EFO	7	EFO	material property	Non-polyposis Turcot syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99817	"Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma." []	5999152	\N	\N	EFO	8	EFO	experimental factor	Non-polyposis Turcot syndrome
Orphanet:99818	\N	\N	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	79254	\N	\N	EFO	0	EFO	Turcot syndrome with polyposis	Turcot syndrome with polyposis
Orphanet:733	Orphanet:99818	\N	"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	224314	\N	\N	EFO	1	EFO	Familial adenomatous polyposis	Turcot syndrome with polyposis
Orphanet:140162	Orphanet:733	\N	"" []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	581161	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Turcot syndrome with polyposis
Orphanet:271835	Orphanet:733	\N	"" []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	581162	\N	\N	EFO	2	EFO	Genetic digestive tract tumor	Turcot syndrome with polyposis
Orphanet:363314	Orphanet:733	\N	"" []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	581163	\N	\N	EFO	2	EFO	Genetic intestinal polyposis	Turcot syndrome with polyposis
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	1165189	\N	\N	EFO	3	EFO	genetic disorder	Turcot syndrome with polyposis
EFO:0000405	Orphanet:271835	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	1165190	\N	\N	EFO	3	EFO	digestive system disease	Turcot syndrome with polyposis
Orphanet:68336	Orphanet:271835	\N	"" []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	1165191	\N	\N	EFO	3	EFO	Rare genetic tumor	Turcot syndrome with polyposis
Orphanet:165655	Orphanet:363314	\N	"" []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	1165192	\N	\N	EFO	3	EFO	Genetic intestinal disease	Turcot syndrome with polyposis
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	4404495	\N	\N	EFO	6	EFO	disease	Turcot syndrome with polyposis
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	3199280	\N	\N	EFO	5	EFO	disease	Turcot syndrome with polyposis
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	2049185	\N	\N	EFO	4	EFO	genetic disorder	Turcot syndrome with polyposis
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	2049186	\N	\N	EFO	4	EFO	neoplasm	Turcot syndrome with polyposis
EFO:0000405	Orphanet:165655	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	2049187	\N	\N	EFO	4	EFO	digestive system disease	Turcot syndrome with polyposis
Orphanet:165652	Orphanet:165655	\N	"" []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	2049188	\N	\N	EFO	4	EFO	Rare genetic gastroenterological disease	Turcot syndrome with polyposis
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	5060374	\N	\N	EFO	7	EFO	disposition	Turcot syndrome with polyposis
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	3199279	\N	\N	EFO	5	EFO	disease	Turcot syndrome with polyposis
EFO:0000508	Orphanet:165652	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	3199281	\N	\N	EFO	5	EFO	genetic disorder	Turcot syndrome with polyposis
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	5877955	\N	\N	EFO	8	EFO	material property	Turcot syndrome with polyposis
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99818	"Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs)." []	6471181	\N	\N	EFO	9	EFO	experimental factor	Turcot syndrome with polyposis
Orphanet:99819	\N	\N	"" []	Orphanet:99819	"" []	79255	\N	\N	EFO	0	EFO	Familial gestational hyperthyroidism	Familial gestational hyperthyroidism
Orphanet:156629	Orphanet:99819	\N	"" []	Orphanet:99819	"" []	224315	\N	\N	EFO	1	EFO	Genetic hypertension	Familial gestational hyperthyroidism
Orphanet:181399	Orphanet:99819	\N	"" []	Orphanet:99819	"" []	224316	\N	\N	EFO	1	EFO	Rare hyperthyroidism	Familial gestational hyperthyroidism
Orphanet:98056	Orphanet:156629	\N	"" []	Orphanet:99819	"" []	581164	\N	\N	EFO	2	EFO	Rare genetic renal disease	Familial gestational hyperthyroidism
Orphanet:183631	Orphanet:181399	\N	"" []	Orphanet:99819	"" []	581165	\N	\N	EFO	2	EFO	Rare genetic thyroid disease	Familial gestational hyperthyroidism
EFO:0000508	Orphanet:98056	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99819	"" []	1165193	\N	\N	EFO	3	EFO	genetic disorder	Familial gestational hyperthyroidism
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:99819	"" []	1165194	\N	\N	EFO	3	EFO	thyroid disease	Familial gestational hyperthyroidism
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:99819	"" []	1165195	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Familial gestational hyperthyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99819	"" []	3199284	\N	\N	EFO	5	EFO	disease	Familial gestational hyperthyroidism
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99819	"" []	2049190	\N	\N	EFO	4	EFO	endocrine system disease	Familial gestational hyperthyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99819	"" []	2049191	\N	\N	EFO	4	EFO	genetic disorder	Familial gestational hyperthyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99819	"" []	2049192	\N	\N	EFO	4	EFO	endocrine system disease	Familial gestational hyperthyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99819	"" []	4134614	\N	\N	EFO	6	EFO	disposition	Familial gestational hyperthyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99819	"" []	3199283	\N	\N	EFO	5	EFO	disease	Familial gestational hyperthyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99819	"" []	5183848	\N	\N	EFO	7	EFO	material property	Familial gestational hyperthyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99819	"" []	5999154	\N	\N	EFO	8	EFO	experimental factor	Familial gestational hyperthyroidism
Orphanet:99832	\N	\N	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	79256	\N	\N	EFO	0	EFO	Resistance to thyrotropin-releasing hormone syndrome	Resistance to thyrotropin-releasing hormone syndrome
Orphanet:226298	Orphanet:99832	\N	"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	224317	\N	\N	EFO	1	EFO	Central congenital hypothyroidism	Resistance to thyrotropin-releasing hormone syndrome
Orphanet:226292	Orphanet:226298	\N	"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	581166	\N	\N	EFO	2	EFO	Permanent congenital hypothyroidism	Resistance to thyrotropin-releasing hormone syndrome
Orphanet:442	Orphanet:226292	\N	"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	1165196	\N	\N	EFO	3	EFO	Congenital hypothyroidism	Resistance to thyrotropin-releasing hormone syndrome
Orphanet:181396	Orphanet:442	\N	"" []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	2049193	\N	\N	EFO	4	EFO	Rare hypothyroidism	Resistance to thyrotropin-releasing hormone syndrome
Orphanet:183631	Orphanet:181396	\N	"" []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	3199285	\N	\N	EFO	5	EFO	Rare genetic thyroid disease	Resistance to thyrotropin-releasing hormone syndrome
EFO:1000627	Orphanet:183631	\N	"A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	4404497	\N	\N	EFO	6	EFO	thyroid disease	Resistance to thyrotropin-releasing hormone syndrome
Orphanet:156638	Orphanet:183631	\N	"" []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	4404498	\N	\N	EFO	6	EFO	Rare genetic endocrine disease	Resistance to thyrotropin-releasing hormone syndrome
EFO:0001379	EFO:1000627	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	5420080	\N	\N	EFO	7	EFO	endocrine system disease	Resistance to thyrotropin-releasing hormone syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	5420081	\N	\N	EFO	7	EFO	genetic disorder	Resistance to thyrotropin-releasing hormone syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	5420082	\N	\N	EFO	7	EFO	endocrine system disease	Resistance to thyrotropin-releasing hormone syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	6154072	\N	\N	EFO	8	EFO	disease	Resistance to thyrotropin-releasing hormone syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	6154073	\N	\N	EFO	8	EFO	disease	Resistance to thyrotropin-releasing hormone syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	6634740	\N	\N	EFO	9	EFO	disposition	Resistance to thyrotropin-releasing hormone syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	6926449	\N	\N	EFO	10	EFO	material property	Resistance to thyrotropin-releasing hormone syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99832	"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." []	7099383	\N	\N	EFO	11	EFO	experimental factor	Resistance to thyrotropin-releasing hormone syndrome
Orphanet:99842	\N	\N	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	79257	\N	\N	EFO	0	EFO	Leukocyte adhesion deficiency type I	Leukocyte adhesion deficiency type I
Orphanet:2968	Orphanet:99842	\N	"" []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	224318	\N	\N	EFO	1	EFO	Leukocyte adhesion deficiency	Leukocyte adhesion deficiency type I
Orphanet:183681	Orphanet:2968	\N	"" []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	581167	\N	\N	EFO	2	EFO	Functional neutrophil defect	Leukocyte adhesion deficiency type I
Orphanet:101988	Orphanet:183681	\N	"" []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	1165197	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Leukocyte adhesion deficiency type I
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	2049194	\N	\N	EFO	4	EFO	Primary immunodeficiency	Leukocyte adhesion deficiency type I
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	3199286	\N	\N	EFO	5	EFO	Rare genetic immune disease	Leukocyte adhesion deficiency type I
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	4404499	\N	\N	EFO	6	EFO	genetic disorder	Leukocyte adhesion deficiency type I
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	4404500	\N	\N	EFO	6	EFO	immune system disease	Leukocyte adhesion deficiency type I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	5420083	\N	\N	EFO	7	EFO	disease	Leukocyte adhesion deficiency type I
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	5420084	\N	\N	EFO	7	EFO	disease	Leukocyte adhesion deficiency type I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	6154074	\N	\N	EFO	8	EFO	disposition	Leukocyte adhesion deficiency type I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	6634741	\N	\N	EFO	9	EFO	material property	Leukocyte adhesion deficiency type I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99842	"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." []	6926450	\N	\N	EFO	10	EFO	experimental factor	Leukocyte adhesion deficiency type I
Orphanet:99843	\N	\N	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	79258	\N	\N	EFO	0	EFO	Leukocyte adhesion deficiency type II	Leukocyte adhesion deficiency type II
Orphanet:2968	Orphanet:99843	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	224319	\N	\N	EFO	1	EFO	Leukocyte adhesion deficiency	Leukocyte adhesion deficiency type II
Orphanet:309526	Orphanet:99843	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	224320	\N	\N	EFO	1	EFO	Disorder of multiple glycosylation	Leukocyte adhesion deficiency type II
Orphanet:371064	Orphanet:99843	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	224321	\N	\N	EFO	1	EFO	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Leukocyte adhesion deficiency type II
Orphanet:371071	Orphanet:99843	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	224322	\N	\N	EFO	1	EFO	Congenital disorder of glycosylation with epilepsy as a major feature	Leukocyte adhesion deficiency type II
Orphanet:183681	Orphanet:2968	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	581168	\N	\N	EFO	2	EFO	Functional neutrophil defect	Leukocyte adhesion deficiency type II
Orphanet:137	Orphanet:309526	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	581169	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation	Leukocyte adhesion deficiency type II
Orphanet:182073	Orphanet:371064	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	581170	\N	\N	EFO	2	EFO	Syndromic neurometabolic disease with non-X-linked intellectual disability	Leukocyte adhesion deficiency type II
Orphanet:371047	Orphanet:371064	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	581171	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Leukocyte adhesion deficiency type II
Orphanet:371047	Orphanet:371071	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	581172	\N	\N	EFO	2	EFO	Congenital disorder of glycosylation with neurological involvement	Leukocyte adhesion deficiency type II
Orphanet:101988	Orphanet:183681	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	1165198	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Leukocyte adhesion deficiency type II
Orphanet:68367	Orphanet:137	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	1165199	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Leukocyte adhesion deficiency type II
Orphanet:183763	Orphanet:182073	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	1165200	\N	\N	EFO	3	EFO	Rare genetic intellectual disability with developmental anomaly	Leukocyte adhesion deficiency type II
Orphanet:68385	Orphanet:371047	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	1165201	\N	\N	EFO	3	EFO	Neurometabolic disease	Leukocyte adhesion deficiency type II
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	2049195	\N	\N	EFO	4	EFO	Primary immunodeficiency	Leukocyte adhesion deficiency type II
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	2049196	\N	\N	EFO	4	EFO	genetic disorder	Leukocyte adhesion deficiency type II
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	2049197	\N	\N	EFO	4	EFO	metabolic disease	Leukocyte adhesion deficiency type II
Orphanet:183757	Orphanet:183763	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	2049198	\N	\N	EFO	4	EFO	Rare genetic intellectual disability	Leukocyte adhesion deficiency type II
Orphanet:71859	Orphanet:68385	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	2049199	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Leukocyte adhesion deficiency type II
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	3199287	\N	\N	EFO	5	EFO	Rare genetic immune disease	Leukocyte adhesion deficiency type II
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	5183850	\N	\N	EFO	7	EFO	disease	Leukocyte adhesion deficiency type II
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	3199289	\N	\N	EFO	5	EFO	disease	Leukocyte adhesion deficiency type II
Orphanet:71859	Orphanet:183757	\N	"" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	3199290	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Leukocyte adhesion deficiency type II
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	4404504	\N	\N	EFO	6	EFO	genetic disorder	Leukocyte adhesion deficiency type II
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	4404501	\N	\N	EFO	6	EFO	genetic disorder	Leukocyte adhesion deficiency type II
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	4404502	\N	\N	EFO	6	EFO	immune system disease	Leukocyte adhesion deficiency type II
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	5877956	\N	\N	EFO	8	EFO	disposition	Leukocyte adhesion deficiency type II
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	5420085	\N	\N	EFO	7	EFO	disease	Leukocyte adhesion deficiency type II
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	6471182	\N	\N	EFO	9	EFO	material property	Leukocyte adhesion deficiency type II
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99843	"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." []	6848963	\N	\N	EFO	10	EFO	experimental factor	Leukocyte adhesion deficiency type II
Orphanet:99844	\N	\N	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	79259	\N	\N	EFO	0	EFO	Leukocyte adhesion deficiency type III	Leukocyte adhesion deficiency type III
Orphanet:2781	Orphanet:99844	\N	"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	224323	\N	\N	EFO	1	EFO	Osteopetrosis	Leukocyte adhesion deficiency type III
Orphanet:2968	Orphanet:99844	\N	"" []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	224324	\N	\N	EFO	1	EFO	Leukocyte adhesion deficiency	Leukocyte adhesion deficiency type III
Orphanet:93444	Orphanet:2781	\N	"" []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	581173	\N	\N	EFO	2	EFO	Primary bone dysplasia with increased bone density	Leukocyte adhesion deficiency type III
Orphanet:183681	Orphanet:2968	\N	"" []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	581174	\N	\N	EFO	2	EFO	Functional neutrophil defect	Leukocyte adhesion deficiency type III
Orphanet:364526	Orphanet:93444	\N	"" []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	1165202	\N	\N	EFO	3	EFO	Primary bone dysplasia	Leukocyte adhesion deficiency type III
Orphanet:101988	Orphanet:183681	\N	"" []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	1165203	\N	\N	EFO	3	EFO	Primary immunodeficiency due to a defect in innate immunity	Leukocyte adhesion deficiency type III
Orphanet:183524	Orphanet:364526	\N	"" []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	2049200	\N	\N	EFO	4	EFO	Rare genetic bone disease	Leukocyte adhesion deficiency type III
Orphanet:404584	Orphanet:364526	\N	"" []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	2049201	\N	\N	EFO	4	EFO	Rare genetic bone development disorder	Leukocyte adhesion deficiency type III
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	2049202	\N	\N	EFO	4	EFO	Primary immunodeficiency	Leukocyte adhesion deficiency type III
EFO:0000508	Orphanet:183524	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	3199292	\N	\N	EFO	5	EFO	genetic disorder	Leukocyte adhesion deficiency type III
EFO:0004260	Orphanet:183524	\N	"Diseases of BONES." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	3199293	\N	\N	EFO	5	EFO	bone disease	Leukocyte adhesion deficiency type III
Orphanet:183530	Orphanet:404584	\N	"" []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	3199294	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Leukocyte adhesion deficiency type III
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	3199295	\N	\N	EFO	5	EFO	Rare genetic immune disease	Leukocyte adhesion deficiency type III
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	5420089	\N	\N	EFO	7	EFO	disease	Leukocyte adhesion deficiency type III
EFO:0002461	EFO:0004260	\N	"Any disease which affects part of the skeletal system." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	4404507	\N	\N	EFO	6	EFO	skeletal system disease	Leukocyte adhesion deficiency type III
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	4404508	\N	\N	EFO	6	EFO	genetic disorder	Leukocyte adhesion deficiency type III
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	4404509	\N	\N	EFO	6	EFO	genetic disorder	Leukocyte adhesion deficiency type III
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	4404510	\N	\N	EFO	6	EFO	immune system disease	Leukocyte adhesion deficiency type III
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	5999156	\N	\N	EFO	8	EFO	disposition	Leukocyte adhesion deficiency type III
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	5420088	\N	\N	EFO	7	EFO	disease	Leukocyte adhesion deficiency type III
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	5420090	\N	\N	EFO	7	EFO	disease	Leukocyte adhesion deficiency type III
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	6552103	\N	\N	EFO	9	EFO	material property	Leukocyte adhesion deficiency type III
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99844	"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." []	6889677	\N	\N	EFO	10	EFO	experimental factor	Leukocyte adhesion deficiency type III
Orphanet:99845	\N	\N	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	79260	\N	\N	EFO	0	EFO	Genetic recurrent myoglobinuria	Genetic recurrent myoglobinuria
Orphanet:206953	Orphanet:99845	\N	"" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	224325	\N	\N	EFO	1	EFO	Muscular lipidosis	Genetic recurrent myoglobinuria
Orphanet:352312	Orphanet:99845	\N	"" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	224326	\N	\N	EFO	1	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	Genetic recurrent myoglobinuria
Orphanet:91088	Orphanet:99845	\N	"" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	224327	\N	\N	EFO	1	EFO	Other metabolic disease	Genetic recurrent myoglobinuria
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	581175	\N	\N	EFO	2	EFO	Metabolic myopathy	Genetic recurrent myoglobinuria
Orphanet:352301	Orphanet:352312	\N	"" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	581176	\N	\N	EFO	2	EFO	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Genetic recurrent myoglobinuria
Orphanet:68367	Orphanet:91088	\N	"" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	581177	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Genetic recurrent myoglobinuria
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	1165204	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Genetic recurrent myoglobinuria
Orphanet:309005	Orphanet:352301	\N	"" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	1165205	\N	\N	EFO	3	EFO	Disorder of lipid metabolism	Genetic recurrent myoglobinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	3199297	\N	\N	EFO	5	EFO	genetic disorder	Genetic recurrent myoglobinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	3199298	\N	\N	EFO	5	EFO	metabolic disease	Genetic recurrent myoglobinuria
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	2049203	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Genetic recurrent myoglobinuria
Orphanet:68367	Orphanet:309005	\N	"" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	2049204	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Genetic recurrent myoglobinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	6154078	\N	\N	EFO	8	EFO	disease	Genetic recurrent myoglobinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	4067029	\N	\N	EFO	6	EFO	disease	Genetic recurrent myoglobinuria
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	3199296	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Genetic recurrent myoglobinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	6379039	\N	\N	EFO	9	EFO	disposition	Genetic recurrent myoglobinuria
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	4404511	\N	\N	EFO	6	EFO	muscular disease	Genetic recurrent myoglobinuria
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	4404512	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Genetic recurrent myoglobinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	6778880	\N	\N	EFO	10	EFO	material property	Genetic recurrent myoglobinuria
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	5420091	\N	\N	EFO	7	EFO	skeletal system disease	Genetic recurrent myoglobinuria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	5420092	\N	\N	EFO	7	EFO	genetic disorder	Genetic recurrent myoglobinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	7030065	\N	\N	EFO	11	EFO	experimental factor	Genetic recurrent myoglobinuria
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99845	"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." []	6154077	\N	\N	EFO	8	EFO	disease	Genetic recurrent myoglobinuria
Orphanet:99846	\N	\N	"" []	Orphanet:99846	"" []	79261	\N	\N	EFO	0	EFO	Autosomal dominant myoglobinuria	Autosomal dominant myoglobinuria
Orphanet:206953	Orphanet:99846	\N	"" []	Orphanet:99846	"" []	224328	\N	\N	EFO	1	EFO	Muscular lipidosis	Autosomal dominant myoglobinuria
Orphanet:91088	Orphanet:99846	\N	"" []	Orphanet:99846	"" []	224329	\N	\N	EFO	1	EFO	Other metabolic disease	Autosomal dominant myoglobinuria
Orphanet:98486	Orphanet:206953	\N	"" []	Orphanet:99846	"" []	581178	\N	\N	EFO	2	EFO	Metabolic myopathy	Autosomal dominant myoglobinuria
Orphanet:68367	Orphanet:91088	\N	"" []	Orphanet:99846	"" []	581179	\N	\N	EFO	2	EFO	Inborn errors of metabolism	Autosomal dominant myoglobinuria
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:99846	"" []	1165208	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Autosomal dominant myoglobinuria
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99846	"" []	1165209	\N	\N	EFO	3	EFO	genetic disorder	Autosomal dominant myoglobinuria
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99846	"" []	1165210	\N	\N	EFO	3	EFO	metabolic disease	Autosomal dominant myoglobinuria
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:99846	"" []	2049207	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Autosomal dominant myoglobinuria
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99846	"" []	6154080	\N	\N	EFO	8	EFO	disease	Autosomal dominant myoglobinuria
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99846	"" []	2049209	\N	\N	EFO	4	EFO	disease	Autosomal dominant myoglobinuria
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:99846	"" []	3199300	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Autosomal dominant myoglobinuria
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99846	"" []	6379040	\N	\N	EFO	9	EFO	disposition	Autosomal dominant myoglobinuria
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:99846	"" []	4404514	\N	\N	EFO	6	EFO	muscular disease	Autosomal dominant myoglobinuria
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:99846	"" []	4404515	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Autosomal dominant myoglobinuria
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99846	"" []	6778881	\N	\N	EFO	10	EFO	material property	Autosomal dominant myoglobinuria
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:99846	"" []	5420094	\N	\N	EFO	7	EFO	skeletal system disease	Autosomal dominant myoglobinuria
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99846	"" []	5420095	\N	\N	EFO	7	EFO	genetic disorder	Autosomal dominant myoglobinuria
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99846	"" []	7030066	\N	\N	EFO	11	EFO	experimental factor	Autosomal dominant myoglobinuria
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99846	"" []	6154079	\N	\N	EFO	8	EFO	disease	Autosomal dominant myoglobinuria
Orphanet:99849	\N	\N	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	79262	\N	\N	EFO	0	EFO	Glycogen storage disease due to muscle beta-enolase deficiency	Glycogen storage disease due to muscle beta-enolase deficiency
Orphanet:206959	Orphanet:99849	\N	"" []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	224330	\N	\N	EFO	1	EFO	Muscular glycogenosis	Glycogen storage disease due to muscle beta-enolase deficiency
Orphanet:79201	Orphanet:99849	\N	"" []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	224331	\N	\N	EFO	1	EFO	Glycogen storage disease	Glycogen storage disease due to muscle beta-enolase deficiency
Orphanet:98486	Orphanet:206959	\N	"" []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	581180	\N	\N	EFO	2	EFO	Metabolic myopathy	Glycogen storage disease due to muscle beta-enolase deficiency
Orphanet:79161	Orphanet:79201	\N	"" []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	581181	\N	\N	EFO	2	EFO	Disorder of carbohydrate metabolism	Glycogen storage disease due to muscle beta-enolase deficiency
Orphanet:206656	Orphanet:98486	\N	"" []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	1165211	\N	\N	EFO	3	EFO	Non-dystrophic myopathy	Glycogen storage disease due to muscle beta-enolase deficiency
Orphanet:68367	Orphanet:79161	\N	"" []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	1165212	\N	\N	EFO	3	EFO	Inborn errors of metabolism	Glycogen storage disease due to muscle beta-enolase deficiency
Orphanet:206634	Orphanet:206656	\N	"" []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	2049210	\N	\N	EFO	4	EFO	Genetic skeletal muscle disease	Glycogen storage disease due to muscle beta-enolase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	2049211	\N	\N	EFO	4	EFO	genetic disorder	Glycogen storage disease due to muscle beta-enolase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	2049212	\N	\N	EFO	4	EFO	metabolic disease	Glycogen storage disease due to muscle beta-enolase deficiency
Orphanet:183497	Orphanet:206634	\N	"" []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	3199302	\N	\N	EFO	5	EFO	Genetic neuromuscular disease	Glycogen storage disease due to muscle beta-enolase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	6154082	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to muscle beta-enolase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	3199304	\N	\N	EFO	5	EFO	disease	Glycogen storage disease due to muscle beta-enolase deficiency
EFO:0002970	Orphanet:183497	\N	"Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	4404517	\N	\N	EFO	6	EFO	muscular disease	Glycogen storage disease due to muscle beta-enolase deficiency
Orphanet:71859	Orphanet:183497	\N	"" []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	4404518	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Glycogen storage disease due to muscle beta-enolase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	6410497	\N	\N	EFO	9	EFO	disposition	Glycogen storage disease due to muscle beta-enolase deficiency
EFO:0002461	EFO:0002970	\N	"Any disease which affects part of the skeletal system." []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	5420097	\N	\N	EFO	7	EFO	skeletal system disease	Glycogen storage disease due to muscle beta-enolase deficiency
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	5420098	\N	\N	EFO	7	EFO	genetic disorder	Glycogen storage disease due to muscle beta-enolase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	6808289	\N	\N	EFO	10	EFO	material property	Glycogen storage disease due to muscle beta-enolase deficiency
EFO:0000408	EFO:0002461	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	6154081	\N	\N	EFO	8	EFO	disease	Glycogen storage disease due to muscle beta-enolase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99849	"Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." []	7048897	\N	\N	EFO	11	EFO	experimental factor	Glycogen storage disease due to muscle beta-enolase deficiency
Orphanet:99852	\N	\N	"" []	Orphanet:99852	"" []	79263	\N	\N	EFO	0	EFO	RAVINE syndrome	RAVINE syndrome
Orphanet:68356	Orphanet:99852	\N	"" []	Orphanet:99852	"" []	224332	\N	\N	EFO	1	EFO	Leukodystrophy	RAVINE syndrome
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:99852	"" []	581182	\N	\N	EFO	2	EFO	Rare genetic neurological disorder	RAVINE syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99852	"" []	1165213	\N	\N	EFO	3	EFO	genetic disorder	RAVINE syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99852	"" []	2049213	\N	\N	EFO	4	EFO	disease	RAVINE syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99852	"" []	3199305	\N	\N	EFO	5	EFO	disposition	RAVINE syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99852	"" []	4404520	\N	\N	EFO	6	EFO	material property	RAVINE syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99852	"" []	5420100	\N	\N	EFO	7	EFO	experimental factor	RAVINE syndrome
Orphanet:99853	\N	\N	"" []	Orphanet:99853	"" []	79264	\N	\N	EFO	0	EFO	Ovarioleukodystrophy	Ovarioleukodystrophy
Orphanet:135	Orphanet:99853	\N	"" []	Orphanet:99853	"" []	224333	\N	\N	EFO	1	EFO	CACH syndrome	Ovarioleukodystrophy
Orphanet:68356	Orphanet:135	\N	"" []	Orphanet:99853	"" []	581183	\N	\N	EFO	2	EFO	Leukodystrophy	Ovarioleukodystrophy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:99853	"" []	1165214	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Ovarioleukodystrophy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99853	"" []	2049214	\N	\N	EFO	4	EFO	genetic disorder	Ovarioleukodystrophy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99853	"" []	3199306	\N	\N	EFO	5	EFO	disease	Ovarioleukodystrophy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99853	"" []	4404521	\N	\N	EFO	6	EFO	disposition	Ovarioleukodystrophy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99853	"" []	5420101	\N	\N	EFO	7	EFO	material property	Ovarioleukodystrophy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99853	"" []	6154084	\N	\N	EFO	8	EFO	experimental factor	Ovarioleukodystrophy
Orphanet:99854	\N	\N	"" []	Orphanet:99854	"" []	79265	\N	\N	EFO	0	EFO	Cree leukoencephalopathy	Cree leukoencephalopathy
Orphanet:135	Orphanet:99854	\N	"" []	Orphanet:99854	"" []	224334	\N	\N	EFO	1	EFO	CACH syndrome	Cree leukoencephalopathy
Orphanet:68356	Orphanet:135	\N	"" []	Orphanet:99854	"" []	581184	\N	\N	EFO	2	EFO	Leukodystrophy	Cree leukoencephalopathy
Orphanet:71859	Orphanet:68356	\N	"" []	Orphanet:99854	"" []	1165215	\N	\N	EFO	3	EFO	Rare genetic neurological disorder	Cree leukoencephalopathy
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99854	"" []	2049215	\N	\N	EFO	4	EFO	genetic disorder	Cree leukoencephalopathy
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99854	"" []	3199307	\N	\N	EFO	5	EFO	disease	Cree leukoencephalopathy
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99854	"" []	4404522	\N	\N	EFO	6	EFO	disposition	Cree leukoencephalopathy
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99854	"" []	5420102	\N	\N	EFO	7	EFO	material property	Cree leukoencephalopathy
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99854	"" []	6154085	\N	\N	EFO	8	EFO	experimental factor	Cree leukoencephalopathy
Orphanet:99856	\N	\N	"" []	Orphanet:99856	"" []	79266	\N	\N	EFO	0	EFO	Primary syringomyelia	Primary syringomyelia
Orphanet:268843	Orphanet:99856	\N	"" []	Orphanet:99856	"" []	224335	\N	\N	EFO	1	EFO	Malformation of the neurenteric canal, spinal cord and column	Primary syringomyelia
Orphanet:3388	Orphanet:268843	\N	"" []	Orphanet:99856	"" []	581185	\N	\N	EFO	2	EFO	Neural tube defect	Primary syringomyelia
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:99856	"" []	1165216	\N	\N	EFO	3	EFO	Genetic non-syndromic central nervous system malformation	Primary syringomyelia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:99856	"" []	2049216	\N	\N	EFO	4	EFO	Genetic central nervous system malformation	Primary syringomyelia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:99856	"" []	3199308	\N	\N	EFO	5	EFO	Rare genetic developmental defect during embryogenesis	Primary syringomyelia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:99856	"" []	3199309	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Primary syringomyelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99856	"" []	4404523	\N	\N	EFO	6	EFO	genetic disorder	Primary syringomyelia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99856	"" []	4404524	\N	\N	EFO	6	EFO	genetic disorder	Primary syringomyelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99856	"" []	5420103	\N	\N	EFO	7	EFO	disease	Primary syringomyelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99856	"" []	6154086	\N	\N	EFO	8	EFO	disposition	Primary syringomyelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99856	"" []	6634743	\N	\N	EFO	9	EFO	material property	Primary syringomyelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99856	"" []	6926451	\N	\N	EFO	10	EFO	experimental factor	Primary syringomyelia
Orphanet:99858	\N	\N	"" []	Orphanet:99858	"" []	79267	\N	\N	EFO	0	EFO	Idiopathic syringomyelia	Idiopathic syringomyelia
Orphanet:99856	Orphanet:99858	\N	"" []	Orphanet:99858	"" []	224336	\N	\N	EFO	1	EFO	Primary syringomyelia	Idiopathic syringomyelia
Orphanet:268843	Orphanet:99856	\N	"" []	Orphanet:99858	"" []	581186	\N	\N	EFO	2	EFO	Malformation of the neurenteric canal, spinal cord and column	Idiopathic syringomyelia
Orphanet:3388	Orphanet:268843	\N	"" []	Orphanet:99858	"" []	1165217	\N	\N	EFO	3	EFO	Neural tube defect	Idiopathic syringomyelia
Orphanet:269550	Orphanet:3388	\N	"" []	Orphanet:99858	"" []	2049217	\N	\N	EFO	4	EFO	Genetic non-syndromic central nervous system malformation	Idiopathic syringomyelia
Orphanet:183506	Orphanet:269550	\N	"" []	Orphanet:99858	"" []	3199310	\N	\N	EFO	5	EFO	Genetic central nervous system malformation	Idiopathic syringomyelia
Orphanet:183530	Orphanet:183506	\N	"" []	Orphanet:99858	"" []	4404525	\N	\N	EFO	6	EFO	Rare genetic developmental defect during embryogenesis	Idiopathic syringomyelia
Orphanet:71859	Orphanet:183506	\N	"" []	Orphanet:99858	"" []	4404526	\N	\N	EFO	6	EFO	Rare genetic neurological disorder	Idiopathic syringomyelia
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99858	"" []	5420104	\N	\N	EFO	7	EFO	genetic disorder	Idiopathic syringomyelia
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99858	"" []	5420105	\N	\N	EFO	7	EFO	genetic disorder	Idiopathic syringomyelia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99858	"" []	6154087	\N	\N	EFO	8	EFO	disease	Idiopathic syringomyelia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99858	"" []	6634744	\N	\N	EFO	9	EFO	disposition	Idiopathic syringomyelia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99858	"" []	6926452	\N	\N	EFO	10	EFO	material property	Idiopathic syringomyelia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99858	"" []	7099384	\N	\N	EFO	11	EFO	experimental factor	Idiopathic syringomyelia
Orphanet:99875	\N	\N	"" []	Orphanet:99875	"" []	79268	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome type 7A	Ehlers-Danlos syndrome type 7A
Orphanet:1899	Orphanet:99875	\N	"" []	Orphanet:99875	"" []	224337	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome, arthrochalasic type	Ehlers-Danlos syndrome type 7A
Orphanet:98249	Orphanet:1899	\N	"" []	Orphanet:99875	"" []	581187	\N	\N	EFO	2	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome type 7A
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:99875	"" []	1165218	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome type 7A
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:99875	"" []	1165219	\N	\N	EFO	3	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome type 7A
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:99875	"" []	1165220	\N	\N	EFO	3	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome type 7A
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:99875	"" []	1165221	\N	\N	EFO	3	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome type 7A
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:99875	"" []	2049218	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome type 7A
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:99875	"" []	2049219	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome type 7A
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:99875	"" []	2049220	\N	\N	EFO	4	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome type 7A
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99875	"" []	2049221	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome type 7A
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99875	"" []	3199311	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome type 7A
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:99875	"" []	3199312	\N	\N	EFO	5	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome type 7A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99875	"" []	5420106	\N	\N	EFO	7	EFO	disease	Ehlers-Danlos syndrome type 7A
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99875	"" []	4404528	\N	\N	EFO	6	EFO	genetic disorder	Ehlers-Danlos syndrome type 7A
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:99875	"" []	4404529	\N	\N	EFO	6	EFO	skin disease	Ehlers-Danlos syndrome type 7A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99875	"" []	5877958	\N	\N	EFO	8	EFO	disposition	Ehlers-Danlos syndrome type 7A
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99875	"" []	5420107	\N	\N	EFO	7	EFO	disease	Ehlers-Danlos syndrome type 7A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99875	"" []	6471184	\N	\N	EFO	9	EFO	material property	Ehlers-Danlos syndrome type 7A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99875	"" []	6848964	\N	\N	EFO	10	EFO	experimental factor	Ehlers-Danlos syndrome type 7A
Orphanet:99876	\N	\N	"" []	Orphanet:99876	"" []	79269	\N	\N	EFO	0	EFO	Ehlers-Danlos syndrome type 7B	Ehlers-Danlos syndrome type 7B
Orphanet:1899	Orphanet:99876	\N	"" []	Orphanet:99876	"" []	224338	\N	\N	EFO	1	EFO	Ehlers-Danlos syndrome, arthrochalasic type	Ehlers-Danlos syndrome type 7B
Orphanet:98249	Orphanet:1899	\N	"" []	Orphanet:99876	"" []	581188	\N	\N	EFO	2	EFO	Ehlers-Danlos syndrome	Ehlers-Danlos syndrome type 7B
Orphanet:139027	Orphanet:98249	\N	"" []	Orphanet:99876	"" []	1165222	\N	\N	EFO	3	EFO	Malformation syndrome with skin/mucosae involvement	Ehlers-Danlos syndrome type 7B
Orphanet:139030	Orphanet:98249	\N	"" []	Orphanet:99876	"" []	1165223	\N	\N	EFO	3	EFO	Malformation syndrome with connective tissue involvement	Ehlers-Danlos syndrome type 7B
Orphanet:228215	Orphanet:98249	\N	"" []	Orphanet:99876	"" []	1165224	\N	\N	EFO	3	EFO	Genetic dermis elastic tissue disorder	Ehlers-Danlos syndrome type 7B
Orphanet:271870	Orphanet:98249	\N	"" []	Orphanet:99876	"" []	1165225	\N	\N	EFO	3	EFO	Rare genetic systemic or rheumatologic disease	Ehlers-Danlos syndrome type 7B
Orphanet:183530	Orphanet:139027	\N	"" []	Orphanet:99876	"" []	2049222	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome type 7B
Orphanet:183530	Orphanet:139030	\N	"" []	Orphanet:99876	"" []	2049223	\N	\N	EFO	4	EFO	Rare genetic developmental defect during embryogenesis	Ehlers-Danlos syndrome type 7B
Orphanet:183472	Orphanet:228215	\N	"" []	Orphanet:99876	"" []	2049224	\N	\N	EFO	4	EFO	Genetic dermis disorder	Ehlers-Danlos syndrome type 7B
EFO:0000508	Orphanet:271870	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99876	"" []	2049225	\N	\N	EFO	4	EFO	genetic disorder	Ehlers-Danlos syndrome type 7B
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99876	"" []	3199314	\N	\N	EFO	5	EFO	genetic disorder	Ehlers-Danlos syndrome type 7B
Orphanet:68346	Orphanet:183472	\N	"" []	Orphanet:99876	"" []	3199315	\N	\N	EFO	5	EFO	Rare genetic skin disease	Ehlers-Danlos syndrome type 7B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99876	"" []	5420109	\N	\N	EFO	7	EFO	disease	Ehlers-Danlos syndrome type 7B
EFO:0000508	Orphanet:68346	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99876	"" []	4404532	\N	\N	EFO	6	EFO	genetic disorder	Ehlers-Danlos syndrome type 7B
EFO:0000701	Orphanet:68346	\N	"Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." []	Orphanet:99876	"" []	4404533	\N	\N	EFO	6	EFO	skin disease	Ehlers-Danlos syndrome type 7B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99876	"" []	5877959	\N	\N	EFO	8	EFO	disposition	Ehlers-Danlos syndrome type 7B
EFO:0000408	EFO:0000701	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99876	"" []	5420110	\N	\N	EFO	7	EFO	disease	Ehlers-Danlos syndrome type 7B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99876	"" []	6471185	\N	\N	EFO	9	EFO	material property	Ehlers-Danlos syndrome type 7B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99876	"" []	6848965	\N	\N	EFO	10	EFO	experimental factor	Ehlers-Danlos syndrome type 7B
Orphanet:99877	\N	\N	"" []	Orphanet:99877	"" []	79270	\N	\N	EFO	0	EFO	Familial parathyroid adenoma	Familial parathyroid adenoma
Orphanet:2207	Orphanet:99877	\N	"" []	Orphanet:99877	"" []	224339	\N	\N	EFO	1	EFO	Familial primary hyperparathyroidism	Familial parathyroid adenoma
Orphanet:271847	Orphanet:99877	\N	"" []	Orphanet:99877	"" []	224340	\N	\N	EFO	1	EFO	Genetic endocrine tumor	Familial parathyroid adenoma
Orphanet:208596	Orphanet:2207	\N	"" []	Orphanet:99877	"" []	581189	\N	\N	EFO	2	EFO	Genetic hyperparathyroidism	Familial parathyroid adenoma
EFO:0003769	Orphanet:271847	\N	"Tumors or cancer of the ENDOCRINE GLANDS." []	Orphanet:99877	"" []	581190	\N	\N	EFO	2	EFO	endocrine neoplasm	Familial parathyroid adenoma
Orphanet:68336	Orphanet:271847	\N	"" []	Orphanet:99877	"" []	581191	\N	\N	EFO	2	EFO	Rare genetic tumor	Familial parathyroid adenoma
EFO:0005754	Orphanet:208596	\N	"a disease that occurs in the parathyroid" []	Orphanet:99877	"" []	1165226	\N	\N	EFO	3	EFO	parathyroid disease	Familial parathyroid adenoma
Orphanet:183634	Orphanet:208596	\N	"" []	Orphanet:99877	"" []	1165227	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Familial parathyroid adenoma
EFO:0000616	EFO:0003769	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:99877	"" []	1165228	\N	\N	EFO	3	EFO	neoplasm	Familial parathyroid adenoma
EFO:0001379	EFO:0003769	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99877	"" []	1165229	\N	\N	EFO	3	EFO	endocrine system disease	Familial parathyroid adenoma
EFO:0000508	Orphanet:68336	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99877	"" []	1165230	\N	\N	EFO	3	EFO	genetic disorder	Familial parathyroid adenoma
EFO:0000616	Orphanet:68336	\N	"A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." []	Orphanet:99877	"" []	1165231	\N	\N	EFO	3	EFO	neoplasm	Familial parathyroid adenoma
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:99877	"" []	2049226	\N	\N	EFO	4	EFO	calcium metabolic disease	Familial parathyroid adenoma
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:99877	"" []	2049227	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Familial parathyroid adenoma
EFO:0000408	EFO:0000616	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99877	"" []	2049228	\N	\N	EFO	4	EFO	disease	Familial parathyroid adenoma
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99877	"" []	4404537	\N	\N	EFO	6	EFO	disease	Familial parathyroid adenoma
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99877	"" []	4404536	\N	\N	EFO	6	EFO	disease	Familial parathyroid adenoma
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99877	"" []	3199317	\N	\N	EFO	5	EFO	metabolic disease	Familial parathyroid adenoma
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99877	"" []	3199318	\N	\N	EFO	5	EFO	genetic disorder	Familial parathyroid adenoma
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99877	"" []	3199319	\N	\N	EFO	5	EFO	endocrine system disease	Familial parathyroid adenoma
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99877	"" []	5060376	\N	\N	EFO	7	EFO	disposition	Familial parathyroid adenoma
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99877	"" []	4404535	\N	\N	EFO	6	EFO	disease	Familial parathyroid adenoma
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99877	"" []	5877960	\N	\N	EFO	8	EFO	material property	Familial parathyroid adenoma
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99877	"" []	6471186	\N	\N	EFO	9	EFO	experimental factor	Familial parathyroid adenoma
Orphanet:99878	\N	\N	"" []	Orphanet:99878	"" []	79271	\N	\N	EFO	0	EFO	Primary parathyroids hyperplasia	Primary parathyroids hyperplasia
Orphanet:2207	Orphanet:99878	\N	"" []	Orphanet:99878	"" []	224341	\N	\N	EFO	1	EFO	Familial primary hyperparathyroidism	Primary parathyroids hyperplasia
Orphanet:208596	Orphanet:2207	\N	"" []	Orphanet:99878	"" []	581192	\N	\N	EFO	2	EFO	Genetic hyperparathyroidism	Primary parathyroids hyperplasia
EFO:0005754	Orphanet:208596	\N	"a disease that occurs in the parathyroid" []	Orphanet:99878	"" []	1165232	\N	\N	EFO	3	EFO	parathyroid disease	Primary parathyroids hyperplasia
Orphanet:183634	Orphanet:208596	\N	"" []	Orphanet:99878	"" []	1165233	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Primary parathyroids hyperplasia
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:99878	"" []	2049231	\N	\N	EFO	4	EFO	calcium metabolic disease	Primary parathyroids hyperplasia
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:99878	"" []	2049232	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Primary parathyroids hyperplasia
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99878	"" []	3199321	\N	\N	EFO	5	EFO	metabolic disease	Primary parathyroids hyperplasia
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99878	"" []	3199322	\N	\N	EFO	5	EFO	genetic disorder	Primary parathyroids hyperplasia
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99878	"" []	3199323	\N	\N	EFO	5	EFO	endocrine system disease	Primary parathyroids hyperplasia
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99878	"" []	4404539	\N	\N	EFO	6	EFO	disease	Primary parathyroids hyperplasia
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99878	"" []	4404540	\N	\N	EFO	6	EFO	disease	Primary parathyroids hyperplasia
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99878	"" []	4404541	\N	\N	EFO	6	EFO	disease	Primary parathyroids hyperplasia
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99878	"" []	5420113	\N	\N	EFO	7	EFO	disposition	Primary parathyroids hyperplasia
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99878	"" []	6154090	\N	\N	EFO	8	EFO	material property	Primary parathyroids hyperplasia
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99878	"" []	6634745	\N	\N	EFO	9	EFO	experimental factor	Primary parathyroids hyperplasia
Orphanet:99879	\N	\N	"" []	Orphanet:99879	"" []	79272	\N	\N	EFO	0	EFO	Familial isolated hyperparathyroidism	Familial isolated hyperparathyroidism
Orphanet:2207	Orphanet:99879	\N	"" []	Orphanet:99879	"" []	224342	\N	\N	EFO	1	EFO	Familial primary hyperparathyroidism	Familial isolated hyperparathyroidism
Orphanet:208596	Orphanet:2207	\N	"" []	Orphanet:99879	"" []	581193	\N	\N	EFO	2	EFO	Genetic hyperparathyroidism	Familial isolated hyperparathyroidism
EFO:0005754	Orphanet:208596	\N	"a disease that occurs in the parathyroid" []	Orphanet:99879	"" []	1165234	\N	\N	EFO	3	EFO	parathyroid disease	Familial isolated hyperparathyroidism
Orphanet:183634	Orphanet:208596	\N	"" []	Orphanet:99879	"" []	1165235	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Familial isolated hyperparathyroidism
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:99879	"" []	2049233	\N	\N	EFO	4	EFO	calcium metabolic disease	Familial isolated hyperparathyroidism
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:99879	"" []	2049234	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Familial isolated hyperparathyroidism
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99879	"" []	3199324	\N	\N	EFO	5	EFO	metabolic disease	Familial isolated hyperparathyroidism
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99879	"" []	3199325	\N	\N	EFO	5	EFO	genetic disorder	Familial isolated hyperparathyroidism
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99879	"" []	3199326	\N	\N	EFO	5	EFO	endocrine system disease	Familial isolated hyperparathyroidism
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99879	"" []	4404542	\N	\N	EFO	6	EFO	disease	Familial isolated hyperparathyroidism
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99879	"" []	4404543	\N	\N	EFO	6	EFO	disease	Familial isolated hyperparathyroidism
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99879	"" []	4404544	\N	\N	EFO	6	EFO	disease	Familial isolated hyperparathyroidism
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99879	"" []	5420114	\N	\N	EFO	7	EFO	disposition	Familial isolated hyperparathyroidism
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99879	"" []	6154091	\N	\N	EFO	8	EFO	material property	Familial isolated hyperparathyroidism
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99879	"" []	6634746	\N	\N	EFO	9	EFO	experimental factor	Familial isolated hyperparathyroidism
Orphanet:99880	\N	\N	"" []	Orphanet:99880	"" []	79273	\N	\N	EFO	0	EFO	Hyperparathyroidism-jaw tumor syndrome	Hyperparathyroidism-jaw tumor syndrome
Orphanet:2207	Orphanet:99880	\N	"" []	Orphanet:99880	"" []	224343	\N	\N	EFO	1	EFO	Familial primary hyperparathyroidism	Hyperparathyroidism-jaw tumor syndrome
Orphanet:319328	Orphanet:99880	\N	"" []	Orphanet:99880	"" []	224344	\N	\N	EFO	1	EFO	Inherited renal cancer-predisposing syndrome	Hyperparathyroidism-jaw tumor syndrome
Orphanet:208596	Orphanet:2207	\N	"" []	Orphanet:99880	"" []	581194	\N	\N	EFO	2	EFO	Genetic hyperparathyroidism	Hyperparathyroidism-jaw tumor syndrome
Orphanet:140162	Orphanet:319328	\N	"" []	Orphanet:99880	"" []	581195	\N	\N	EFO	2	EFO	Inherited cancer-predisposing syndrome	Hyperparathyroidism-jaw tumor syndrome
EFO:0005754	Orphanet:208596	\N	"a disease that occurs in the parathyroid" []	Orphanet:99880	"" []	1165236	\N	\N	EFO	3	EFO	parathyroid disease	Hyperparathyroidism-jaw tumor syndrome
Orphanet:183634	Orphanet:208596	\N	"" []	Orphanet:99880	"" []	1165237	\N	\N	EFO	3	EFO	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Hyperparathyroidism-jaw tumor syndrome
EFO:0000508	Orphanet:140162	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99880	"" []	1165238	\N	\N	EFO	3	EFO	genetic disorder	Hyperparathyroidism-jaw tumor syndrome
EFO:0005769	EFO:0005754	\N	"Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels." []	Orphanet:99880	"" []	2049235	\N	\N	EFO	4	EFO	calcium metabolic disease	Hyperparathyroidism-jaw tumor syndrome
Orphanet:156638	Orphanet:183634	\N	"" []	Orphanet:99880	"" []	2049236	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Hyperparathyroidism-jaw tumor syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99880	"" []	4404546	\N	\N	EFO	6	EFO	disease	Hyperparathyroidism-jaw tumor syndrome
EFO:0000589	EFO:0005769	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99880	"" []	3199327	\N	\N	EFO	5	EFO	metabolic disease	Hyperparathyroidism-jaw tumor syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99880	"" []	3199328	\N	\N	EFO	5	EFO	genetic disorder	Hyperparathyroidism-jaw tumor syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99880	"" []	3199329	\N	\N	EFO	5	EFO	endocrine system disease	Hyperparathyroidism-jaw tumor syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99880	"" []	5060377	\N	\N	EFO	7	EFO	disposition	Hyperparathyroidism-jaw tumor syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99880	"" []	4404545	\N	\N	EFO	6	EFO	disease	Hyperparathyroidism-jaw tumor syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99880	"" []	4404547	\N	\N	EFO	6	EFO	disease	Hyperparathyroidism-jaw tumor syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99880	"" []	5877961	\N	\N	EFO	8	EFO	material property	Hyperparathyroidism-jaw tumor syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99880	"" []	6471187	\N	\N	EFO	9	EFO	experimental factor	Hyperparathyroidism-jaw tumor syndrome
Orphanet:99885	\N	\N	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	79274	\N	\N	EFO	0	EFO	Permanent neonatal diabetes mellitus	Permanent neonatal diabetes mellitus
Orphanet:224	Orphanet:99885	\N	"" []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	224345	\N	\N	EFO	1	EFO	Neonatal diabetes mellitus	Permanent neonatal diabetes mellitus
Orphanet:183625	Orphanet:224	\N	"" []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	581196	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Permanent neonatal diabetes mellitus
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	1165239	\N	\N	EFO	3	EFO	diabetes mellitus	Permanent neonatal diabetes mellitus
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	1165240	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Permanent neonatal diabetes mellitus
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	2049238	\N	\N	EFO	4	EFO	metabolic disease	Permanent neonatal diabetes mellitus
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	2049239	\N	\N	EFO	4	EFO	genetic disorder	Permanent neonatal diabetes mellitus
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	2049240	\N	\N	EFO	4	EFO	endocrine system disease	Permanent neonatal diabetes mellitus
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	3199331	\N	\N	EFO	5	EFO	disease	Permanent neonatal diabetes mellitus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	3199332	\N	\N	EFO	5	EFO	disease	Permanent neonatal diabetes mellitus
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	3199333	\N	\N	EFO	5	EFO	disease	Permanent neonatal diabetes mellitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	4404549	\N	\N	EFO	6	EFO	disposition	Permanent neonatal diabetes mellitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	5420116	\N	\N	EFO	7	EFO	material property	Permanent neonatal diabetes mellitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99885	"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." []	6154092	\N	\N	EFO	8	EFO	experimental factor	Permanent neonatal diabetes mellitus
Orphanet:99886	\N	\N	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	79275	\N	\N	EFO	0	EFO	Transient neonatal diabetes mellitus	Transient neonatal diabetes mellitus
Orphanet:224	Orphanet:99886	\N	"" []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	224346	\N	\N	EFO	1	EFO	Neonatal diabetes mellitus	Transient neonatal diabetes mellitus
Orphanet:183625	Orphanet:224	\N	"" []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	581197	\N	\N	EFO	2	EFO	Rare genetic diabetes mellitus	Transient neonatal diabetes mellitus
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	1165241	\N	\N	EFO	3	EFO	diabetes mellitus	Transient neonatal diabetes mellitus
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	1165242	\N	\N	EFO	3	EFO	Rare genetic endocrine disease	Transient neonatal diabetes mellitus
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	2049241	\N	\N	EFO	4	EFO	metabolic disease	Transient neonatal diabetes mellitus
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	2049242	\N	\N	EFO	4	EFO	genetic disorder	Transient neonatal diabetes mellitus
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	2049243	\N	\N	EFO	4	EFO	endocrine system disease	Transient neonatal diabetes mellitus
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	3199334	\N	\N	EFO	5	EFO	disease	Transient neonatal diabetes mellitus
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	3199335	\N	\N	EFO	5	EFO	disease	Transient neonatal diabetes mellitus
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	3199336	\N	\N	EFO	5	EFO	disease	Transient neonatal diabetes mellitus
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	4404550	\N	\N	EFO	6	EFO	disposition	Transient neonatal diabetes mellitus
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	5420117	\N	\N	EFO	7	EFO	material property	Transient neonatal diabetes mellitus
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99886	"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." []	6154093	\N	\N	EFO	8	EFO	experimental factor	Transient neonatal diabetes mellitus
Orphanet:99898	\N	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	79276	\N	\N	EFO	0	EFO	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Orphanet:319535	Orphanet:99898	\N	"Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	224347	\N	\N	EFO	1	EFO	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Orphanet:748	Orphanet:319535	\N	"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Gurin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	581198	\N	\N	EFO	2	EFO	Mendelian susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Orphanet:183710	Orphanet:748	\N	"" []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	1165243	\N	\N	EFO	3	EFO	Genetic susceptibility to infections due to particular pathogens	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Orphanet:101988	Orphanet:183710	\N	"" []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	2049244	\N	\N	EFO	4	EFO	Primary immunodeficiency due to a defect in innate immunity	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Orphanet:101997	Orphanet:101988	\N	"" []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	3199337	\N	\N	EFO	5	EFO	Primary immunodeficiency	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Orphanet:183770	Orphanet:101997	\N	"" []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	4404551	\N	\N	EFO	6	EFO	Rare genetic immune disease	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
EFO:0000508	Orphanet:183770	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	5420118	\N	\N	EFO	7	EFO	genetic disorder	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
EFO:0000540	Orphanet:183770	\N	"A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	5420119	\N	\N	EFO	7	EFO	immune system disease	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6154094	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
EFO:0000408	EFO:0000540	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6154095	\N	\N	EFO	8	EFO	disease	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6634747	\N	\N	EFO	9	EFO	disposition	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	6926453	\N	\N	EFO	10	EFO	material property	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99898	"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Gurin (BCG) and other environmental mycobacteria (EM)." []	7099385	\N	\N	EFO	11	EFO	experimental factor	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Orphanet:999	\N	\N	"" []	Orphanet:999	"" []	79277	\N	\N	EFO	0	EFO	Ermine phenotype	Ermine phenotype
Orphanet:90642	Orphanet:999	\N	"" []	Orphanet:999	"" []	224348	\N	\N	EFO	1	EFO	Syndromic genetic deafness	Ermine phenotype
Orphanet:96210	Orphanet:90642	\N	"" []	Orphanet:999	"" []	581199	\N	\N	EFO	2	EFO	Rare genetic deafness	Ermine phenotype
EFO:0000508	Orphanet:96210	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:999	"" []	1165244	\N	\N	EFO	3	EFO	genetic disorder	Ermine phenotype
EFO:1001455	Orphanet:96210	\N	"Pathological processes of the ear, the hearing, and the equilibrium system of the body." []	Orphanet:999	"" []	1165245	\N	\N	EFO	3	EFO	auditory system disease	Ermine phenotype
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:999	"" []	2049245	\N	\N	EFO	4	EFO	disease	Ermine phenotype
EFO:0001058	EFO:1001455	\N	"A sensory system disease is a disease which has as location the sensory system." []	Orphanet:999	"" []	2049246	\N	\N	EFO	4	EFO	sensory system disease	Ermine phenotype
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:999	"" []	5420121	\N	\N	EFO	7	EFO	disposition	Ermine phenotype
EFO:0000618	EFO:0001058	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:999	"" []	3199339	\N	\N	EFO	5	EFO	nervous system disease	Ermine phenotype
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:999	"" []	5877962	\N	\N	EFO	8	EFO	material property	Ermine phenotype
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:999	"" []	4404553	\N	\N	EFO	6	EFO	disease	Ermine phenotype
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:999	"" []	6471188	\N	\N	EFO	9	EFO	experimental factor	Ermine phenotype
Orphanet:99900	\N	\N	"" []	Orphanet:99900	"" []	79278	\N	\N	EFO	0	EFO	Long chain acyl-CoA dehydrogenase deficiency	Long chain acyl-CoA dehydrogenase deficiency
Orphanet:217591	Orphanet:99900	\N	"" []	Orphanet:99900	"" []	224349	\N	\N	EFO	1	EFO	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Long chain acyl-CoA dehydrogenase deficiency
Orphanet:309133	Orphanet:99900	\N	"" []	Orphanet:99900	"" []	224350	\N	\N	EFO	1	EFO	Metabolic disease due to other fatty acid oxidation disorder	Long chain acyl-CoA dehydrogenase deficiency
Orphanet:99739	Orphanet:217591	\N	"" []	Orphanet:99900	"" []	581200	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Long chain acyl-CoA dehydrogenase deficiency
Orphanet:79174	Orphanet:309133	\N	"" []	Orphanet:99900	"" []	581201	\N	\N	EFO	2	EFO	Disorder of fatty acid oxidation and ketone body metabolism	Long chain acyl-CoA dehydrogenase deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:99900	"" []	1165246	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Long chain acyl-CoA dehydrogenase deficiency
Orphanet:79200	Orphanet:79174	\N	"" []	Orphanet:99900	"" []	1165247	\N	\N	EFO	3	EFO	Disorder of energy metabolism	Long chain acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99900	"" []	2049247	\N	\N	EFO	4	EFO	genetic disorder	Long chain acyl-CoA dehydrogenase deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:99900	"" []	2049248	\N	\N	EFO	4	EFO	heart disease	Long chain acyl-CoA dehydrogenase deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:99900	"" []	2049249	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Long chain acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99900	"" []	4404556	\N	\N	EFO	6	EFO	disease	Long chain acyl-CoA dehydrogenase deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:99900	"" []	3199341	\N	\N	EFO	5	EFO	cardiovascular disease	Long chain acyl-CoA dehydrogenase deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99900	"" []	3199342	\N	\N	EFO	5	EFO	genetic disorder	Long chain acyl-CoA dehydrogenase deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99900	"" []	3199343	\N	\N	EFO	5	EFO	metabolic disease	Long chain acyl-CoA dehydrogenase deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99900	"" []	5183853	\N	\N	EFO	7	EFO	disposition	Long chain acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99900	"" []	4404555	\N	\N	EFO	6	EFO	disease	Long chain acyl-CoA dehydrogenase deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99900	"" []	4404557	\N	\N	EFO	6	EFO	disease	Long chain acyl-CoA dehydrogenase deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99900	"" []	5999159	\N	\N	EFO	8	EFO	material property	Long chain acyl-CoA dehydrogenase deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99900	"" []	6552106	\N	\N	EFO	9	EFO	experimental factor	Long chain acyl-CoA dehydrogenase deficiency
Orphanet:99901	\N	\N	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	79279	\N	\N	EFO	0	EFO	Acyl-CoA dehydrogenase 9 deficiency	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:217591	Orphanet:99901	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	224351	\N	\N	EFO	1	EFO	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:217616	Orphanet:99901	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	224352	\N	\N	EFO	1	EFO	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:254843	Orphanet:99901	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	224353	\N	\N	EFO	1	EFO	Exercise intolerance with lactic acidosis	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:99739	Orphanet:217591	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	581202	\N	\N	EFO	2	EFO	Rare familial disorder with hypertrophic cardiomyopathy	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:217607	Orphanet:217616	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	581203	\N	\N	EFO	2	EFO	Familial dilated cardiomyopathy	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:309136	Orphanet:254843	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	581204	\N	\N	EFO	2	EFO	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:98054	Orphanet:99739	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	1165248	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Acyl-CoA dehydrogenase 9 deficiency
EFO:0000318	Orphanet:217607	\N	"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	1165249	\N	\N	EFO	3	EFO	cardiomyopathy	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:98054	Orphanet:217607	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	1165250	\N	\N	EFO	3	EFO	Rare genetic cardiac disease	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:2443	Orphanet:309136	\N	"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	1165251	\N	\N	EFO	3	EFO	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Acyl-CoA dehydrogenase 9 deficiency
EFO:0000508	Orphanet:98054	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	2049250	\N	\N	EFO	4	EFO	genetic disorder	Acyl-CoA dehydrogenase 9 deficiency
EFO:0003777	Orphanet:98054	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	2049251	\N	\N	EFO	4	EFO	heart disease	Acyl-CoA dehydrogenase 9 deficiency
EFO:0003777	EFO:0000318	\N	"Pathological conditions involving the HEART including its structural and functional abnormalities." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	2049252	\N	\N	EFO	4	EFO	heart disease	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:223713	Orphanet:2443	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	2049253	\N	\N	EFO	4	EFO	Mitochondrial oxidative phosphorylation disorder	Acyl-CoA dehydrogenase 9 deficiency
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	6634748	\N	\N	EFO	9	EFO	disease	Acyl-CoA dehydrogenase 9 deficiency
EFO:0000319	EFO:0003777	\N	"Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	3199345	\N	\N	EFO	5	EFO	cardiovascular disease	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:68380	Orphanet:223713	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	3199346	\N	\N	EFO	5	EFO	Mitochondrial disease	Acyl-CoA dehydrogenase 9 deficiency
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	6778882	\N	\N	EFO	10	EFO	disposition	Acyl-CoA dehydrogenase 9 deficiency
EFO:0000408	EFO:0000319	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	4404559	\N	\N	EFO	6	EFO	disease	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:139009	Orphanet:68380	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	4404560	\N	\N	EFO	6	EFO	Developmental anomaly of metabolic origin	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:79200	Orphanet:68380	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	4404561	\N	\N	EFO	6	EFO	Disorder of energy metabolism	Acyl-CoA dehydrogenase 9 deficiency
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	7030067	\N	\N	EFO	11	EFO	material property	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:183530	Orphanet:139009	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	5420125	\N	\N	EFO	7	EFO	Rare genetic developmental defect during embryogenesis	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:68367	Orphanet:79200	\N	"" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	5420126	\N	\N	EFO	7	EFO	Inborn errors of metabolism	Acyl-CoA dehydrogenase 9 deficiency
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	7181845	\N	\N	EFO	12	EFO	experimental factor	Acyl-CoA dehydrogenase 9 deficiency
EFO:0000508	Orphanet:183530	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	6154098	\N	\N	EFO	8	EFO	genetic disorder	Acyl-CoA dehydrogenase 9 deficiency
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	6154099	\N	\N	EFO	8	EFO	genetic disorder	Acyl-CoA dehydrogenase 9 deficiency
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	6154100	\N	\N	EFO	8	EFO	metabolic disease	Acyl-CoA dehydrogenase 9 deficiency
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99901	"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." []	6634749	\N	\N	EFO	9	EFO	disease	Acyl-CoA dehydrogenase 9 deficiency
Orphanet:99936	\N	\N	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	79280	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2B	Autosomal dominant Charcot-Marie-Tooth disease type 2B
Orphanet:64746	Orphanet:99936	\N	"" []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	224354	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2B
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	581205	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2B
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	581206	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2B
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	1165252	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2B
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	1165253	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2B
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	2049254	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2B
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	2049255	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2B
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	3199348	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2B
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	3199347	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2B
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	4134615	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2B
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	4404562	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2B
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	5183854	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2B
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	5420127	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2B
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	5999161	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2B
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	6552108	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2B
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99936	"Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." []	6889678	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2B
Orphanet:99937	\N	\N	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	79281	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2C	Autosomal dominant Charcot-Marie-Tooth disease type 2C
Orphanet:64746	Orphanet:99937	\N	"" []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	224355	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2C
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	581207	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2C
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	581208	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2C
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	1165254	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2C
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	1165255	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2C
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	2049257	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2C
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	2049258	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2C
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	3199351	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2C
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	3199350	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2C
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	4134616	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2C
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	4404564	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	5183855	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2C
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	5420129	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	5999162	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	6552109	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99937	"Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." []	6889679	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2C
Orphanet:99938	\N	\N	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	79282	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2D	Autosomal dominant Charcot-Marie-Tooth disease type 2D
Orphanet:64746	Orphanet:99938	\N	"" []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	224356	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2D
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	581209	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2D
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	581210	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2D
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	1165256	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2D
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	1165257	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2D
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	2049260	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2D
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	2049261	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2D
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	3199354	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2D
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	3199353	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2D
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	4134617	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2D
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	4404566	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2D
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	5183856	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2D
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	5420131	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2D
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	5999163	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2D
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	6552110	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2D
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99938	"Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." []	6889680	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2D
Orphanet:99939	\N	\N	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	79283	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2E	Autosomal dominant Charcot-Marie-Tooth disease type 2E
Orphanet:64746	Orphanet:99939	\N	"" []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	224357	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2E
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	581211	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2E
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	581212	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2E
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	1165258	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2E
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	1165259	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2E
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	2049263	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2E
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	2049264	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2E
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	3199357	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2E
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	3199356	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2E
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	4134618	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2E
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	4404568	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2E
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	5183857	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2E
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	5420133	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	5999164	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	6552111	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99939	"Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." []	6889681	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2E
Orphanet:99940	\N	\N	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	79284	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2F	Autosomal dominant Charcot-Marie-Tooth disease type 2F
Orphanet:64746	Orphanet:99940	\N	"" []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	224358	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2F
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	581213	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2F
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	581214	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2F
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	1165260	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2F
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	1165261	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2F
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	2049266	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2F
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	2049267	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2F
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	3199360	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2F
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	3199359	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2F
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	4134619	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2F
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	4404570	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2F
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	5183858	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2F
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	5420135	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2F
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	5999165	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2F
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	6552112	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2F
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99940	"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." []	6889682	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2F
Orphanet:99941	\N	\N	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	79285	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2G	Autosomal dominant Charcot-Marie-Tooth disease type 2G
Orphanet:64746	Orphanet:99941	\N	"" []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	224359	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2G
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	581215	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2G
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	581216	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2G
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	1165262	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2G
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	1165263	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2G
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	2049269	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2G
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	2049270	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2G
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	3199363	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2G
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	3199362	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2G
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	4134620	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2G
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	4404572	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2G
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	5183859	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2G
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	5420137	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2G
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	5999166	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2G
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	6552113	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2G
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99941	"Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." []	6889683	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2G
Orphanet:99942	\N	\N	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	79286	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2I	Autosomal dominant Charcot-Marie-Tooth disease type 2I
Orphanet:64746	Orphanet:99942	\N	"" []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	224360	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2I
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	581217	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2I
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	581218	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2I
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	1165264	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2I
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	1165265	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2I
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	2049272	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2I
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	2049273	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2I
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	3199366	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2I
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	3199365	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2I
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	4134621	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2I
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	4404574	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2I
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	5183860	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2I
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	5420139	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2I
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	5999167	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2I
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	6552114	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2I
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99942	"Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." []	6889684	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2I
Orphanet:99943	\N	\N	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	79287	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2J	Autosomal dominant Charcot-Marie-Tooth disease type 2J
Orphanet:64746	Orphanet:99943	\N	"" []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	224361	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2J
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	581219	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2J
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	581220	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2J
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	1165266	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2J
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	1165267	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2J
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	2049275	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2J
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	2049276	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2J
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	3199369	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2J
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	3199368	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2J
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	4134622	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2J
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	4404576	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2J
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	5183861	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2J
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	5420141	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2J
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	5999168	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2J
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	6552115	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2J
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99943	"Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." []	6889685	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2J
Orphanet:99944	\N	\N	"" []	Orphanet:99944	"" []	79288	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2K	Autosomal dominant Charcot-Marie-Tooth disease type 2K
Orphanet:64746	Orphanet:99944	\N	"" []	Orphanet:99944	"" []	224362	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2K
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:99944	"" []	581221	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2K
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:99944	"" []	581222	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2K
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:99944	"" []	1165268	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2K
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99944	"" []	1165269	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2K
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99944	"" []	2049278	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2K
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99944	"" []	2049279	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2K
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99944	"" []	3199372	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2K
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99944	"" []	3199371	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2K
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99944	"" []	4134623	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2K
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99944	"" []	4404578	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2K
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99944	"" []	5183862	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2K
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99944	"" []	5420143	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2K
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99944	"" []	5999169	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2K
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99944	"" []	6552116	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2K
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99944	"" []	6889686	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2K
Orphanet:99945	\N	\N	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	79289	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2L	Autosomal dominant Charcot-Marie-Tooth disease type 2L
Orphanet:64746	Orphanet:99945	\N	"" []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	224363	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2L
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	581223	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2L
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	581224	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2L
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	1165270	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2L
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	1165271	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2L
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	2049281	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2L
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	2049282	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2L
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	3199375	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2L
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	3199374	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2L
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	4134624	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2L
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	4404580	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2L
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	5183863	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2L
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	5420145	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2L
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	5999170	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2L
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	6552117	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2L
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99945	"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." []	6889687	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2L
Orphanet:99946	\N	\N	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	79290	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2A1	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Orphanet:64746	Orphanet:99946	\N	"" []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	224364	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	581225	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	581226	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	1165272	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	1165273	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	2049284	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	2049285	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	3199378	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	3199377	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	4134625	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	4404582	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	5183864	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	5420147	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	5999171	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	6552118	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99946	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." []	6889688	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Orphanet:99947	\N	\N	"" []	Orphanet:99947	"" []	79291	\N	\N	EFO	0	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Orphanet:64746	Orphanet:99947	\N	"" []	Orphanet:99947	"" []	224365	\N	\N	EFO	1	EFO	Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Orphanet:140456	Orphanet:64746	\N	"" []	Orphanet:99947	"" []	581227	\N	\N	EFO	2	EFO	Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Orphanet:166	Orphanet:64746	\N	"" []	Orphanet:99947	"" []	581228	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Orphanet:140450	Orphanet:140456	\N	"" []	Orphanet:99947	"" []	1165274	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99947	"" []	1165275	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99947	"" []	2049287	\N	\N	EFO	4	EFO	motor neuron disease	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99947	"" []	2049288	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99947	"" []	3199381	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99947	"" []	3199380	\N	\N	EFO	5	EFO	neurodegenerative disease	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99947	"" []	4134626	\N	\N	EFO	6	EFO	genetic disorder	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99947	"" []	4404584	\N	\N	EFO	6	EFO	nervous system disease	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99947	"" []	5183865	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99947	"" []	5420149	\N	\N	EFO	7	EFO	disease	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99947	"" []	5999172	\N	\N	EFO	8	EFO	disposition	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99947	"" []	6552119	\N	\N	EFO	9	EFO	material property	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99947	"" []	6889689	\N	\N	EFO	10	EFO	experimental factor	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Orphanet:99948	\N	\N	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	79292	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 4A	Charcot-Marie-Tooth disease type 4A
Orphanet:64749	Orphanet:99948	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	224366	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4A
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	581229	\N	\N	EFO	2	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4A
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	581230	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 4A
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	1165276	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4A
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	1165277	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4A
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	2049290	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 4A
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	2049291	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4A
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	3199384	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 4A
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	3199383	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 4A
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	4134627	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 4A
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	4404586	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 4A
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	5183866	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4A
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	5420151	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4A
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	5999173	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 4A
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	6552120	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 4A
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99948	"Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis." []	6889690	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 4A
Orphanet:99949	\N	\N	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	79293	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 4C	Charcot-Marie-Tooth disease type 4C
Orphanet:64749	Orphanet:99949	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	224367	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4C
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	581231	\N	\N	EFO	2	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4C
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	581232	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 4C
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	1165278	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4C
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	1165279	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4C
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	2049293	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 4C
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	2049294	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4C
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	3199387	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 4C
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	3199386	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 4C
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	4134628	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 4C
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	4404588	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 4C
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	5183867	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4C
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	5420153	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4C
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	5999174	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 4C
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	6552121	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 4C
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99949	"Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis." []	6889691	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 4C
Orphanet:99950	\N	\N	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	79294	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 4D	Charcot-Marie-Tooth disease type 4D
Orphanet:64749	Orphanet:99950	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	224368	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4D
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	581233	\N	\N	EFO	2	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4D
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	581234	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 4D
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	1165280	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4D
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	1165281	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4D
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	2049296	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 4D
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	2049297	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4D
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	3199390	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 4D
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	3199389	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 4D
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	4134629	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 4D
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	4404590	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 4D
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	5183868	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4D
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	5420155	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4D
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	5999175	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 4D
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	6552122	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 4D
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99950	"Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life." []	6889692	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 4D
Orphanet:99951	\N	\N	"" []	Orphanet:99951	"" []	79295	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 4E	Charcot-Marie-Tooth disease type 4E
Orphanet:64749	Orphanet:99951	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:99951	"" []	224369	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4E
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:99951	"" []	581235	\N	\N	EFO	2	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4E
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:99951	"" []	581236	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 4E
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:99951	"" []	1165282	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4E
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99951	"" []	1165283	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4E
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99951	"" []	2049299	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 4E
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99951	"" []	2049300	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4E
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99951	"" []	3199393	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 4E
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99951	"" []	3199392	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 4E
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99951	"" []	4134630	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 4E
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99951	"" []	4404592	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 4E
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99951	"" []	5183869	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4E
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99951	"" []	5420157	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4E
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99951	"" []	5999176	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 4E
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99951	"" []	6552123	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 4E
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99951	"" []	6889693	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 4E
Orphanet:99952	\N	\N	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	79296	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 4F	Charcot-Marie-Tooth disease type 4F
Orphanet:64749	Orphanet:99952	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	224370	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4F
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	581237	\N	\N	EFO	2	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4F
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	581238	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 4F
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	1165284	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4F
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	1165285	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4F
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	2049302	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 4F
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	2049303	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4F
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	3199396	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 4F
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	3199395	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 4F
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	4134631	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 4F
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	4404594	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 4F
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	5183870	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4F
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	5420159	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4F
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	5999177	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 4F
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	6552124	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 4F
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99952	"Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	6889694	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 4F
Orphanet:99953	\N	\N	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	79297	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 4G	Charcot-Marie-Tooth disease type 4G
Orphanet:64749	Orphanet:99953	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	224371	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4G
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	581239	\N	\N	EFO	2	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4G
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	581240	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 4G
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	1165286	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4G
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	1165287	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4G
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	2049305	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 4G
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	2049306	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4G
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	3199399	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 4G
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	3199398	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 4G
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	4134632	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 4G
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	4404596	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 4G
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	5183871	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4G
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	5420161	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4G
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	5999178	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 4G
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	6552125	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 4G
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99953	"Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy." []	6889695	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 4G
Orphanet:99954	\N	\N	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	79298	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 4H	Charcot-Marie-Tooth disease type 4H
Orphanet:64749	Orphanet:99954	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	224372	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4H
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	581241	\N	\N	EFO	2	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4H
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	581242	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 4H
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	1165288	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4H
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	1165289	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4H
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	2049308	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 4H
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	2049309	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4H
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	3199402	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 4H
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	3199401	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 4H
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	4134633	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 4H
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	4404598	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 4H
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	5183872	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4H
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	5420163	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4H
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	5999179	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 4H
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	6552126	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 4H
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99954	"Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" []	6889696	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 4H
Orphanet:99955	\N	\N	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	79299	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 4B1	Charcot-Marie-Tooth disease type 4B1
Orphanet:64749	Orphanet:99955	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	224373	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4B1
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	581243	\N	\N	EFO	2	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4B1
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	581244	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 4B1
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	1165290	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4B1
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	1165291	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4B1
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	2049311	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 4B1
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	2049312	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4B1
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	3199405	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 4B1
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	3199404	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 4B1
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	4134634	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 4B1
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	4404600	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 4B1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	5183873	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4B1
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	5420165	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4B1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	5999180	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 4B1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	6552127	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 4B1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99955	"Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	6889697	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 4B1
Orphanet:99956	\N	\N	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	79300	\N	\N	EFO	0	EFO	Charcot-Marie-Tooth disease type 4B2	Charcot-Marie-Tooth disease type 4B2
Orphanet:64749	Orphanet:99956	\N	"Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	224374	\N	\N	EFO	1	EFO	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4B2
Orphanet:140459	Orphanet:64749	\N	"" []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	581245	\N	\N	EFO	2	EFO	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4B2
Orphanet:166	Orphanet:64749	\N	"" []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	581246	\N	\N	EFO	2	EFO	Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease type 4B2
Orphanet:140450	Orphanet:140459	\N	"" []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	1165292	\N	\N	EFO	3	EFO	Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 4B2
Orphanet:98497	Orphanet:166	\N	"" []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	1165293	\N	\N	EFO	3	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4B2
EFO:0003782	Orphanet:140450	\N	"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)" []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	2049314	\N	\N	EFO	4	EFO	motor neuron disease	Charcot-Marie-Tooth disease type 4B2
Orphanet:98497	Orphanet:140450	\N	"" []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	2049315	\N	\N	EFO	4	EFO	Genetic peripheral neuropathy	Charcot-Marie-Tooth disease type 4B2
Orphanet:71859	Orphanet:98497	\N	"" []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	3199408	\N	\N	EFO	5	EFO	Rare genetic neurological disorder	Charcot-Marie-Tooth disease type 4B2
EFO:0005772	EFO:0003782	\N	"A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	3199407	\N	\N	EFO	5	EFO	neurodegenerative disease	Charcot-Marie-Tooth disease type 4B2
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	4134635	\N	\N	EFO	6	EFO	genetic disorder	Charcot-Marie-Tooth disease type 4B2
EFO:0000618	EFO:0005772	\N	"a general class of medical conditions affecting the nervous system." []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	4404602	\N	\N	EFO	6	EFO	nervous system disease	Charcot-Marie-Tooth disease type 4B2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	5183874	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4B2
EFO:0000408	EFO:0000618	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	5420167	\N	\N	EFO	7	EFO	disease	Charcot-Marie-Tooth disease type 4B2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	5999181	\N	\N	EFO	8	EFO	disposition	Charcot-Marie-Tooth disease type 4B2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	6552128	\N	\N	EFO	9	EFO	material property	Charcot-Marie-Tooth disease type 4B2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99956	"Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy." []	6889698	\N	\N	EFO	10	EFO	experimental factor	Charcot-Marie-Tooth disease type 4B2
Orphanet:99960	\N	\N	"" []	Orphanet:99960	"" []	79301	\N	\N	EFO	0	EFO	Benign recurrent intrahepatic cholestasis type 1	Benign recurrent intrahepatic cholestasis type 1
Orphanet:65682	Orphanet:99960	\N	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	Orphanet:99960	"" []	224375	\N	\N	EFO	1	EFO	Benign recurrent intrahepatic cholestasis	Benign recurrent intrahepatic cholestasis type 1
Orphanet:284385	Orphanet:65682	\N	"" []	Orphanet:99960	"" []	581247	\N	\N	EFO	2	EFO	Familial intrahepatic cholestasis	Benign recurrent intrahepatic cholestasis type 1
Orphanet:309816	Orphanet:65682	\N	"" []	Orphanet:99960	"" []	581248	\N	\N	EFO	2	EFO	Disorder of bilirubin metabolism and excretion	Benign recurrent intrahepatic cholestasis type 1
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:99960	"" []	1165294	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Benign recurrent intrahepatic cholestasis type 1
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:99960	"" []	1165295	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Benign recurrent intrahepatic cholestasis type 1
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:99960	"" []	2049317	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Benign recurrent intrahepatic cholestasis type 1
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:99960	"" []	2049318	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Benign recurrent intrahepatic cholestasis type 1
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:99960	"" []	3199410	\N	\N	EFO	5	EFO	digestive system disease	Benign recurrent intrahepatic cholestasis type 1
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99960	"" []	3199411	\N	\N	EFO	5	EFO	genetic disorder	Benign recurrent intrahepatic cholestasis type 1
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99960	"" []	3199412	\N	\N	EFO	5	EFO	genetic disorder	Benign recurrent intrahepatic cholestasis type 1
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99960	"" []	3199413	\N	\N	EFO	5	EFO	metabolic disease	Benign recurrent intrahepatic cholestasis type 1
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99960	"" []	4404604	\N	\N	EFO	6	EFO	disease	Benign recurrent intrahepatic cholestasis type 1
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99960	"" []	4404605	\N	\N	EFO	6	EFO	disease	Benign recurrent intrahepatic cholestasis type 1
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99960	"" []	4404606	\N	\N	EFO	6	EFO	disease	Benign recurrent intrahepatic cholestasis type 1
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99960	"" []	5420169	\N	\N	EFO	7	EFO	disposition	Benign recurrent intrahepatic cholestasis type 1
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99960	"" []	6154122	\N	\N	EFO	8	EFO	material property	Benign recurrent intrahepatic cholestasis type 1
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99960	"" []	6634771	\N	\N	EFO	9	EFO	experimental factor	Benign recurrent intrahepatic cholestasis type 1
Orphanet:99961	\N	\N	"" []	Orphanet:99961	"" []	79302	\N	\N	EFO	0	EFO	Benign recurrent intrahepatic cholestasis type 2	Benign recurrent intrahepatic cholestasis type 2
Orphanet:65682	Orphanet:99961	\N	"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." []	Orphanet:99961	"" []	224376	\N	\N	EFO	1	EFO	Benign recurrent intrahepatic cholestasis	Benign recurrent intrahepatic cholestasis type 2
Orphanet:284385	Orphanet:65682	\N	"" []	Orphanet:99961	"" []	581249	\N	\N	EFO	2	EFO	Familial intrahepatic cholestasis	Benign recurrent intrahepatic cholestasis type 2
Orphanet:309816	Orphanet:65682	\N	"" []	Orphanet:99961	"" []	581250	\N	\N	EFO	2	EFO	Disorder of bilirubin metabolism and excretion	Benign recurrent intrahepatic cholestasis type 2
Orphanet:101940	Orphanet:284385	\N	"" []	Orphanet:99961	"" []	1165296	\N	\N	EFO	3	EFO	Rare metabolic liver disease	Benign recurrent intrahepatic cholestasis type 2
Orphanet:309813	Orphanet:309816	\N	"" []	Orphanet:99961	"" []	1165297	\N	\N	EFO	3	EFO	Disorder of porphyrin and haem metabolism	Benign recurrent intrahepatic cholestasis type 2
Orphanet:156601	Orphanet:101940	\N	"" []	Orphanet:99961	"" []	2049319	\N	\N	EFO	4	EFO	Rare genetic hepatic disease	Benign recurrent intrahepatic cholestasis type 2
Orphanet:68367	Orphanet:309813	\N	"" []	Orphanet:99961	"" []	2049320	\N	\N	EFO	4	EFO	Inborn errors of metabolism	Benign recurrent intrahepatic cholestasis type 2
EFO:0000405	Orphanet:156601	\N	"Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []	Orphanet:99961	"" []	3199414	\N	\N	EFO	5	EFO	digestive system disease	Benign recurrent intrahepatic cholestasis type 2
EFO:0000508	Orphanet:156601	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99961	"" []	3199415	\N	\N	EFO	5	EFO	genetic disorder	Benign recurrent intrahepatic cholestasis type 2
EFO:0000508	Orphanet:68367	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99961	"" []	3199416	\N	\N	EFO	5	EFO	genetic disorder	Benign recurrent intrahepatic cholestasis type 2
EFO:0000589	Orphanet:68367	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99961	"" []	3199417	\N	\N	EFO	5	EFO	metabolic disease	Benign recurrent intrahepatic cholestasis type 2
EFO:0000408	EFO:0000405	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99961	"" []	4404607	\N	\N	EFO	6	EFO	disease	Benign recurrent intrahepatic cholestasis type 2
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99961	"" []	4404608	\N	\N	EFO	6	EFO	disease	Benign recurrent intrahepatic cholestasis type 2
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99961	"" []	4404609	\N	\N	EFO	6	EFO	disease	Benign recurrent intrahepatic cholestasis type 2
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99961	"" []	5420170	\N	\N	EFO	7	EFO	disposition	Benign recurrent intrahepatic cholestasis type 2
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99961	"" []	6154123	\N	\N	EFO	8	EFO	material property	Benign recurrent intrahepatic cholestasis type 2
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99961	"" []	6634772	\N	\N	EFO	9	EFO	experimental factor	Benign recurrent intrahepatic cholestasis type 2
Orphanet:99989	\N	\N	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	79303	\N	\N	EFO	0	EFO	Intermediate DEND syndrome	Intermediate DEND syndrome
Orphanet:79134	Orphanet:99989	\N	"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	224377	\N	\N	EFO	1	EFO	DEND syndrome	Intermediate DEND syndrome
Orphanet:166463	Orphanet:79134	\N	"" []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	581251	\N	\N	EFO	2	EFO	Epilepsy syndrome	Intermediate DEND syndrome
Orphanet:224	Orphanet:79134	\N	"" []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	581252	\N	\N	EFO	2	EFO	Neonatal diabetes mellitus	Intermediate DEND syndrome
Orphanet:183512	Orphanet:166463	\N	"" []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	1165298	\N	\N	EFO	3	EFO	Rare genetic epilepsy	Intermediate DEND syndrome
Orphanet:183625	Orphanet:224	\N	"" []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	1165299	\N	\N	EFO	3	EFO	Rare genetic diabetes mellitus	Intermediate DEND syndrome
Orphanet:71859	Orphanet:183512	\N	"" []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	2049321	\N	\N	EFO	4	EFO	Rare genetic neurological disorder	Intermediate DEND syndrome
EFO:0000400	Orphanet:183625	\N	"A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	2049322	\N	\N	EFO	4	EFO	diabetes mellitus	Intermediate DEND syndrome
Orphanet:156638	Orphanet:183625	\N	"" []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	2049323	\N	\N	EFO	4	EFO	Rare genetic endocrine disease	Intermediate DEND syndrome
EFO:0000508	Orphanet:71859	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	3199418	\N	\N	EFO	5	EFO	genetic disorder	Intermediate DEND syndrome
EFO:0000589	EFO:0000400	\N	"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)" []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	3199419	\N	\N	EFO	5	EFO	metabolic disease	Intermediate DEND syndrome
EFO:0000508	Orphanet:156638	\N	"Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders." []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	3199420	\N	\N	EFO	5	EFO	genetic disorder	Intermediate DEND syndrome
EFO:0001379	Orphanet:156638	\N	"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES." []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	3199421	\N	\N	EFO	5	EFO	endocrine system disease	Intermediate DEND syndrome
EFO:0000408	EFO:0000508	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	4404610	\N	\N	EFO	6	EFO	disease	Intermediate DEND syndrome
EFO:0000408	EFO:0000589	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	4404611	\N	\N	EFO	6	EFO	disease	Intermediate DEND syndrome
EFO:0000408	EFO:0001379	\N	"A disease is a disposition that describes states of disease associated with a particular sample and/or organism." []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	4404612	\N	\N	EFO	6	EFO	disease	Intermediate DEND syndrome
BFO:0000016	EFO:0000408	\N	"A disposition is an entity that causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease." []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	5420171	\N	\N	EFO	7	EFO	disposition	Intermediate DEND syndrome
BFO:0000020	BFO:0000016	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	6154124	\N	\N	EFO	8	EFO	material property	Intermediate DEND syndrome
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	Orphanet:99989	"Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." []	6634773	\N	\N	EFO	9	EFO	experimental factor	Intermediate DEND syndrome
PO:0000003	\N	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0000003	"A plant structure (PO:0005679) which is a whole organism." []	79304	\N	\N	EFO	0	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0000003	"A plant structure (PO:0005679) which is a whole organism." []	224378	\N	\N	EFO	1	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0000003	"A plant structure (PO:0005679) which is a whole organism." []	224379	\N	\N	EFO	1	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0000003	"A plant structure (PO:0005679) which is a whole organism." []	581253	\N	\N	EFO	2	EFO	plant component	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0000003	"A plant structure (PO:0005679) which is a whole organism." []	581254	\N	\N	EFO	2	EFO	plant anatomical entity	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0000003	"A plant structure (PO:0005679) which is a whole organism." []	581255	\N	\N	EFO	2	EFO	plant anatomical entity	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000003	"A plant structure (PO:0005679) which is a whole organism." []	1165300	\N	\N	EFO	3	EFO	anatomy basic component	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000003	"A plant structure (PO:0005679) which is a whole organism." []	1165301	\N	\N	EFO	3	EFO	anatomy basic component	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000003	"A plant structure (PO:0005679) which is a whole organism." []	2049324	\N	\N	EFO	4	EFO	organism part	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000003	"A plant structure (PO:0005679) which is a whole organism." []	3199422	\N	\N	EFO	5	EFO	material entity	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000003	"A plant structure (PO:0005679) which is a whole organism." []	4404613	\N	\N	EFO	6	EFO	experimental factor	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000014	\N	\N	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	79305	\N	\N	EFO	0	EFO	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009025	PO:0000014	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	224380	\N	\N	EFO	1	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025615	PO:0000014	\N	"A collective leaf structure (PO:0025022) consisting of a group of rosette leaves (PO:0000014), generally borne at the base of the plant, that are separated by very short stem internodes (PO:0020142)." []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	224381	\N	\N	EFO	1	EFO	rosette {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	581256	\N	\N	EFO	2	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025022	PO:0025615	\N	"" []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	581257	\N	\N	EFO	2	EFO	collective leaf structure	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	1165302	\N	\N	EFO	3	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0025022	\N	"" []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	1165303	\N	\N	EFO	3	EFO	plant component	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0025022	\N	"An anatomical entity that is or was part of a plant." []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	1165304	\N	\N	EFO	3	EFO	plant anatomical entity	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	2049325	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	2049326	\N	\N	EFO	4	EFO	anatomy basic component	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	2049327	\N	\N	EFO	4	EFO	anatomy basic component	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	3199423	\N	\N	EFO	5	EFO	organism part	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	4404614	\N	\N	EFO	6	EFO	material entity	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000014	"A vascular leaf (PO:0009025) born in a circular pattern around a stem (PO:0009047) with compressed stem internodes (PO:0020142)." []	5420172	\N	\N	EFO	7	EFO	experimental factor	rosette leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000017	\N	\N	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	79306	\N	\N	EFO	0	EFO	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025128	\N	\N	"A primordium (PO:0025127) that develops from a phyllome anlagen (PO:0025430) and is part of a shoot apex (PO:0000037) and is committed to the development of a phyllome (PO:0006001)." [PMID:11572953, POC:curators]	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	195779	\N	\N	EFO	0	EFO	phyllome primordium	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025223	PO:0000017	\N	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	224382	\N	\N	EFO	1	EFO	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025223	PO:0000017	\N	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	224383	\N	\N	EFO	1	EFO	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000037	PO:0025223	\N	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	581258	\N	\N	EFO	2	EFO	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000037	PO:0025223	\N	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	581259	\N	\N	EFO	2	EFO	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0000037	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	1165305	\N	\N	EFO	3	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0000037	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	1165306	\N	\N	EFO	3	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0025029	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	2049328	\N	\N	EFO	4	EFO	shoot	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	2049329	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	2049330	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	3199424	\N	\N	EFO	5	EFO	plant component	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	3199425	\N	\N	EFO	5	EFO	plant anatomical entity	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	3199426	\N	\N	EFO	5	EFO	plant component	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	3199427	\N	\N	EFO	5	EFO	plant anatomical entity	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	4404615	\N	\N	EFO	6	EFO	anatomy basic component	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	4404616	\N	\N	EFO	6	EFO	anatomy basic component	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	5420173	\N	\N	EFO	7	EFO	organism part	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	6154125	\N	\N	EFO	8	EFO	material entity	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000017	"A phyllome primordium (PO:0025128) that develops from a vascular leaf anlagen (PO:0025431) and is part of a vegetative shoot apex (PO:0025223) and is committed to the development of a vascular leaf (PO:0009025)." []	6634774	\N	\N	EFO	9	EFO	experimental factor	vascular leaf primordium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000025	\N	\N	"The portion of the root including the meristem and the root cap." []	PO:0000025	"The portion of the root including the meristem and the root cap." []	79307	\N	\N	EFO	0	EFO	root tip	root tip
EFO:0000989	PO:0000025	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0000025	"The portion of the root including the meristem and the root cap." []	224384	\N	\N	EFO	1	EFO	root structure	root tip
PO:0009005	PO:0000025	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000025	"The portion of the root including the meristem and the root cap." []	224385	\N	\N	EFO	1	EFO	root	root tip
PO:0009005	PO:0000025	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000025	"The portion of the root including the meristem and the root cap." []	224386	\N	\N	EFO	1	EFO	root	root tip
PO:0025001	PO:0000025	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0000025	"The portion of the root including the meristem and the root cap." []	224387	\N	\N	EFO	1	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root tip
EFO:0000789	EFO:0000989	\N	"" []	PO:0000025	"The portion of the root including the meristem and the root cap." []	581260	\N	\N	EFO	2	EFO	plant component	root tip
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0000025	"The portion of the root including the meristem and the root cap." []	581261	\N	\N	EFO	2	EFO	plant anatomical entity	root tip
EFO:0000789	PO:0009005	\N	"" []	PO:0000025	"The portion of the root including the meristem and the root cap." []	581262	\N	\N	EFO	2	EFO	plant component	root tip
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0000025	"The portion of the root including the meristem and the root cap." []	581263	\N	\N	EFO	2	EFO	plant anatomical entity	root tip
EFO:0000786	EFO:0000789	\N	"" []	PO:0000025	"The portion of the root including the meristem and the root cap." []	1165307	\N	\N	EFO	3	EFO	anatomy basic component	root tip
EFO:0000786	PO:0025131	\N	"" []	PO:0000025	"The portion of the root including the meristem and the root cap." []	1165308	\N	\N	EFO	3	EFO	anatomy basic component	root tip
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000025	"The portion of the root including the meristem and the root cap." []	2049331	\N	\N	EFO	4	EFO	organism part	root tip
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000025	"The portion of the root including the meristem and the root cap." []	3199428	\N	\N	EFO	5	EFO	material entity	root tip
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000025	"The portion of the root including the meristem and the root cap." []	4404617	\N	\N	EFO	6	EFO	experimental factor	root tip
PO:0000026	\N	\N	"The portion of the primary root including the meristem and root cap." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	79308	\N	\N	EFO	0	EFO	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000025	PO:0000026	\N	"The portion of the root including the meristem and the root cap." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	224388	\N	\N	EFO	1	EFO	root tip	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000025	PO:0000026	\N	"The portion of the root including the meristem and the root cap." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	224389	\N	\N	EFO	1	EFO	root tip	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020127	PO:0000026	\N	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	224390	\N	\N	EFO	1	EFO	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000989	PO:0000025	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	581264	\N	\N	EFO	2	EFO	root structure	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0000025	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	581265	\N	\N	EFO	2	EFO	root	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0000025	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	581266	\N	\N	EFO	2	EFO	root	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025001	PO:0000025	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	581267	\N	\N	EFO	2	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0020127	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	581268	\N	\N	EFO	2	EFO	root	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000989	\N	"" []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	1165309	\N	\N	EFO	3	EFO	plant component	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	1165310	\N	\N	EFO	3	EFO	plant anatomical entity	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009005	\N	"" []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	1165311	\N	\N	EFO	3	EFO	plant component	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	1165312	\N	\N	EFO	3	EFO	plant anatomical entity	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	2049332	\N	\N	EFO	4	EFO	anatomy basic component	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	2049333	\N	\N	EFO	4	EFO	anatomy basic component	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	3199429	\N	\N	EFO	5	EFO	organism part	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	4404618	\N	\N	EFO	6	EFO	material entity	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000026	"The portion of the primary root including the meristem and root cap." []	5420174	\N	\N	EFO	7	EFO	experimental factor	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000034	\N	\N	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	79309	\N	\N	EFO	0	EFO	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0000034	\N	"" []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	224391	\N	\N	EFO	1	EFO	plant component	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0000034	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	224392	\N	\N	EFO	1	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0000034	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	224393	\N	\N	EFO	1	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0000034	\N	"An anatomical entity that is or was part of a plant." []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	224394	\N	\N	EFO	1	EFO	plant anatomical entity	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	581269	\N	\N	EFO	2	EFO	anatomy basic component	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	581270	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	581271	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	581272	\N	\N	EFO	2	EFO	anatomy basic component	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	1165313	\N	\N	EFO	3	EFO	organism part	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	1165314	\N	\N	EFO	3	EFO	plant anatomical entity	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	2049334	\N	\N	EFO	4	EFO	material entity	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000034	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	3199430	\N	\N	EFO	5	EFO	experimental factor	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000037	\N	\N	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	79310	\N	\N	EFO	0	EFO	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0000037	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	224395	\N	\N	EFO	1	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0000037	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	224396	\N	\N	EFO	1	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0025029	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	581273	\N	\N	EFO	2	EFO	shoot	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	581274	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	581275	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	1165315	\N	\N	EFO	3	EFO	plant component	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	1165316	\N	\N	EFO	3	EFO	plant anatomical entity	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	1165317	\N	\N	EFO	3	EFO	plant component	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	1165318	\N	\N	EFO	3	EFO	plant anatomical entity	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	2049335	\N	\N	EFO	4	EFO	anatomy basic component	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	2049336	\N	\N	EFO	4	EFO	anatomy basic component	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	3199431	\N	\N	EFO	5	EFO	organism part	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	4404619	\N	\N	EFO	6	EFO	material entity	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000037	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	5420175	\N	\N	EFO	7	EFO	experimental factor	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000043	\N	\N	"A shoot-borne nodal root (PO:0003005) formed at a stem base (PO:0008039)." []	PO:0000043	"A shoot-borne nodal root (PO:0003005) formed at a stem base (PO:0008039)." []	79311	\N	\N	EFO	0	EFO	crown root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	crown root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0003005	\N	\N	"A shoot-borne root (PO:0000042) that forms at a shoot axis node (PO:0005004)." [http://www.botgard.ucla.edu/html/botanytextbooks/generalbotany/typesofroots/, POC:Laurel_Cooper]	PO:0000043	"A shoot-borne nodal root (PO:0003005) formed at a stem base (PO:0008039)." []	195780	\N	reference,TraitNet	EFO	0	EFO	shoot-borne nodal root	crown root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0000043	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000043	"A shoot-borne nodal root (PO:0003005) formed at a stem base (PO:0008039)." []	224397	\N	\N	EFO	1	EFO	root	crown root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009005	\N	"" []	PO:0000043	"A shoot-borne nodal root (PO:0003005) formed at a stem base (PO:0008039)." []	581276	\N	\N	EFO	2	EFO	plant component	crown root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0000043	"A shoot-borne nodal root (PO:0003005) formed at a stem base (PO:0008039)." []	581277	\N	\N	EFO	2	EFO	plant anatomical entity	crown root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000043	"A shoot-borne nodal root (PO:0003005) formed at a stem base (PO:0008039)." []	1165319	\N	\N	EFO	3	EFO	anatomy basic component	crown root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000043	"A shoot-borne nodal root (PO:0003005) formed at a stem base (PO:0008039)." []	1165320	\N	\N	EFO	3	EFO	anatomy basic component	crown root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000043	"A shoot-borne nodal root (PO:0003005) formed at a stem base (PO:0008039)." []	2049337	\N	\N	EFO	4	EFO	organism part	crown root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000043	"A shoot-borne nodal root (PO:0003005) formed at a stem base (PO:0008039)." []	3199432	\N	\N	EFO	5	EFO	material entity	crown root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000043	"A shoot-borne nodal root (PO:0003005) formed at a stem base (PO:0008039)." []	4404620	\N	\N	EFO	6	EFO	experimental factor	crown root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000045	\N	\N	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	PO:0000045	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	79312	\N	\N	EFO	0	EFO	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0000045	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000045	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	224398	\N	\N	EFO	1	EFO	root	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0000045	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000045	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	224399	\N	\N	EFO	1	EFO	root	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009005	\N	"" []	PO:0000045	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	581278	\N	\N	EFO	2	EFO	plant component	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0000045	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	581279	\N	\N	EFO	2	EFO	plant anatomical entity	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000045	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	1165321	\N	\N	EFO	3	EFO	anatomy basic component	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000045	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	1165322	\N	\N	EFO	3	EFO	anatomy basic component	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000045	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	2049338	\N	\N	EFO	4	EFO	organism part	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000045	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	3199433	\N	\N	EFO	5	EFO	material entity	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000045	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	4404621	\N	\N	EFO	6	EFO	experimental factor	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000046	\N	\N	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	79313	\N	\N	EFO	0	EFO	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0003005	\N	\N	"A shoot-borne root (PO:0000042) that forms at a shoot axis node (PO:0005004)." [http://www.botgard.ucla.edu/html/botanytextbooks/generalbotany/typesofroots/, POC:Laurel_Cooper]	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	195781	\N	reference,TraitNet	EFO	0	EFO	shoot-borne nodal root	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000045	PO:0000046	\N	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	224400	\N	\N	EFO	1	EFO	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000045	PO:0000046	\N	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	224401	\N	\N	EFO	1	EFO	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0000045	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	581280	\N	\N	EFO	2	EFO	root	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0000045	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	581281	\N	\N	EFO	2	EFO	root	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009005	\N	"" []	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	1165323	\N	\N	EFO	3	EFO	plant component	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	1165324	\N	\N	EFO	3	EFO	plant anatomical entity	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	2049339	\N	\N	EFO	4	EFO	anatomy basic component	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	2049340	\N	\N	EFO	4	EFO	anatomy basic component	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	3199434	\N	\N	EFO	5	EFO	organism part	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	4404622	\N	\N	EFO	6	EFO	material entity	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000046	"An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." []	5420176	\N	\N	EFO	7	EFO	experimental factor	seminal root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000055	\N	\N	"An undeveloped shoot system (PO:0009006)." []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	79314	\N	\N	EFO	0	EFO	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0000055	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	224402	\N	\N	EFO	1	EFO	shoot	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0000055	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	224403	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0000055	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	224404	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	581282	\N	\N	EFO	2	EFO	plant component	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	581283	\N	\N	EFO	2	EFO	plant anatomical entity	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	581284	\N	\N	EFO	2	EFO	plant component	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	581285	\N	\N	EFO	2	EFO	plant anatomical entity	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	1165325	\N	\N	EFO	3	EFO	anatomy basic component	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	1165326	\N	\N	EFO	3	EFO	anatomy basic component	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	2049341	\N	\N	EFO	4	EFO	organism part	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	3199435	\N	\N	EFO	5	EFO	material entity	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000055	"An undeveloped shoot system (PO:0009006)." []	4404623	\N	\N	EFO	6	EFO	experimental factor	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000056	\N	\N	"A bud that develops into a flower." []	PO:0000056	"A bud that develops into a flower." []	79315	\N	\N	EFO	0	EFO	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025084	\N	\N	"A bud that develops into a reproductive shoot system." [POC:curators]	PO:0000056	"A bud that develops into a flower." []	195782	\N	TraitNet	EFO	0	EFO	reproductive bud	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000055	PO:0000056	\N	"An undeveloped shoot system (PO:0009006)." []	PO:0000056	"A bud that develops into a flower." []	224405	\N	\N	EFO	1	EFO	bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0000055	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0000056	"A bud that develops into a flower." []	581286	\N	\N	EFO	2	EFO	shoot	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0000055	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0000056	"A bud that develops into a flower." []	581287	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0000056	"A bud that develops into a flower." []	1165327	\N	\N	EFO	3	EFO	plant component	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0000056	"A bud that develops into a flower." []	1165328	\N	\N	EFO	3	EFO	plant anatomical entity	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0000056	"A bud that develops into a flower." []	1165329	\N	\N	EFO	3	EFO	plant component	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0000056	"A bud that develops into a flower." []	1165330	\N	\N	EFO	3	EFO	plant anatomical entity	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000056	"A bud that develops into a flower." []	2049342	\N	\N	EFO	4	EFO	anatomy basic component	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000056	"A bud that develops into a flower." []	2049343	\N	\N	EFO	4	EFO	anatomy basic component	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000056	"A bud that develops into a flower." []	3199436	\N	\N	EFO	5	EFO	organism part	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000056	"A bud that develops into a flower." []	4404624	\N	\N	EFO	6	EFO	material entity	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000056	"A bud that develops into a flower." []	5420177	\N	\N	EFO	7	EFO	experimental factor	flower bud {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000229	\N	\N	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	79316	\N	\N	EFO	0	EFO	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0008028	\N	\N	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of reproductive tissues and organs." [GR:Chih-Wei_Tung]	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	195783	\N	\N	EFO	0	EFO	reproductive shoot apical meristem	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020148	PO:0000229	\N	"" []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	224406	\N	\N	EFO	1	EFO	shoot apical meristem	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0020148	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	581288	\N	\N	EFO	2	EFO	shoot	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0020148	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	581289	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009013	PO:0020148	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	581290	\N	\N	EFO	2	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	1165331	\N	\N	EFO	3	EFO	plant component	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	1165332	\N	\N	EFO	3	EFO	plant anatomical entity	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	1165333	\N	\N	EFO	3	EFO	plant component	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	1165334	\N	\N	EFO	3	EFO	plant anatomical entity	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	1165335	\N	\N	EFO	3	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	4404626	\N	\N	EFO	6	EFO	anatomy basic component	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	4404627	\N	\N	EFO	6	EFO	anatomy basic component	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	2049346	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	5060378	\N	\N	EFO	7	EFO	organism part	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	3199438	\N	\N	EFO	5	EFO	plant component	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	3199439	\N	\N	EFO	5	EFO	plant anatomical entity	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	5877963	\N	\N	EFO	8	EFO	material entity	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000229	"A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." []	6471189	\N	\N	EFO	9	EFO	experimental factor	flower meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000230	\N	\N	"A meristem that gives rise to an inflorescence." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	79317	\N	\N	EFO	0	EFO	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009013	PO:0000230	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0000230	"A meristem that gives rise to an inflorescence." []	224407	\N	\N	EFO	1	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0000230	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	224408	\N	\N	EFO	1	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0000230	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	224409	\N	\N	EFO	1	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	581291	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009049	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	581292	\N	\N	EFO	2	EFO	shoot	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009049	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	581293	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	1165336	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0000230	"A meristem that gives rise to an inflorescence." []	1165337	\N	\N	EFO	3	EFO	plant component	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	1165338	\N	\N	EFO	3	EFO	plant anatomical entity	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0000230	"A meristem that gives rise to an inflorescence." []	1165339	\N	\N	EFO	3	EFO	plant component	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	1165340	\N	\N	EFO	3	EFO	plant anatomical entity	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	2049347	\N	\N	EFO	4	EFO	plant anatomical entity	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0000230	"A meristem that gives rise to an inflorescence." []	2049348	\N	\N	EFO	4	EFO	anatomy basic component	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0000230	"A meristem that gives rise to an inflorescence." []	2049349	\N	\N	EFO	4	EFO	anatomy basic component	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	3199440	\N	\N	EFO	5	EFO	organism part	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	4404628	\N	\N	EFO	6	EFO	material entity	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000230	"A meristem that gives rise to an inflorescence." []	5420179	\N	\N	EFO	7	EFO	experimental factor	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000256	\N	\N	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	79318	\N	\N	EFO	0	EFO	root hair	root hair
PO:0025164	\N	\N	"An epidermal cell that is part of a root epidermis." [POC:curators]	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	195784	\N	CL	EFO	0	EFO	root epidermal cell	root hair
EFO:0000989	PO:0000256	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	224410	\N	\N	EFO	1	EFO	root structure	root hair
PO:0009005	PO:0000256	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	224411	\N	\N	EFO	1	EFO	root	root hair
EFO:0000789	EFO:0000989	\N	"" []	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	581294	\N	\N	EFO	2	EFO	plant component	root hair
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	581295	\N	\N	EFO	2	EFO	plant anatomical entity	root hair
EFO:0000789	PO:0009005	\N	"" []	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	581296	\N	\N	EFO	2	EFO	plant component	root hair
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	581297	\N	\N	EFO	2	EFO	plant anatomical entity	root hair
EFO:0000786	EFO:0000789	\N	"" []	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	1165341	\N	\N	EFO	3	EFO	anatomy basic component	root hair
EFO:0000786	PO:0025131	\N	"" []	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	1165342	\N	\N	EFO	3	EFO	anatomy basic component	root hair
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	2049350	\N	\N	EFO	4	EFO	organism part	root hair
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	3199441	\N	\N	EFO	5	EFO	material entity	root hair
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000256	"A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots." []	4404629	\N	\N	EFO	6	EFO	experimental factor	root hair
PO:0000258	\N	\N	"A portion of ground tissue that is part of a cortext and part of a root" []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	79319	\N	\N	EFO	0	EFO	root cortex	root cortex
PO:0005708	\N	\N	"A maximal portion of ground tissue (PO:0025059) between the vascular system (PO:0000034) and the epidermis (PO:0005679) in a plant." [POC:curators]	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	195785	\N	TraitNet	EFO	0	EFO	cortex	root cortex
EFO:0000989	PO:0000258	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	224412	\N	\N	EFO	1	EFO	root structure	root cortex
PO:0009005	PO:0000258	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	224413	\N	\N	EFO	1	EFO	root	root cortex
PO:0009005	PO:0000258	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	224414	\N	\N	EFO	1	EFO	root	root cortex
EFO:0000789	EFO:0000989	\N	"" []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	581298	\N	\N	EFO	2	EFO	plant component	root cortex
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	581299	\N	\N	EFO	2	EFO	plant anatomical entity	root cortex
EFO:0000789	PO:0009005	\N	"" []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	581300	\N	\N	EFO	2	EFO	plant component	root cortex
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	581301	\N	\N	EFO	2	EFO	plant anatomical entity	root cortex
EFO:0000786	EFO:0000789	\N	"" []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	1165343	\N	\N	EFO	3	EFO	anatomy basic component	root cortex
EFO:0000786	PO:0025131	\N	"" []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	1165344	\N	\N	EFO	3	EFO	anatomy basic component	root cortex
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	2049351	\N	\N	EFO	4	EFO	organism part	root cortex
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	3199442	\N	\N	EFO	5	EFO	material entity	root cortex
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0000258	"A portion of ground tissue that is part of a cortext and part of a root" []	4404630	\N	\N	EFO	6	EFO	experimental factor	root cortex
PO:0001002	\N	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	PO:0001002	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	79320	\N	\N	EFO	0	EFO	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025571	\N	\N	"A plant structure development stage (PO:0009012) that has as primary participant a multi-tissue plant structure (PO:0025496)." [POC:Laurel_Cooper]	PO:0001002	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	195786	\N	\N	EFO	0	EFO	multi-tissue plant structure development stage	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0001002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0001002	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	224415	\N	\N	EFO	1	EFO	plant structure development stage	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0001002	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	581302	\N	\N	EFO	2	EFO	developmental stage	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0001002	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	1165345	\N	\N	EFO	3	EFO	process	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0001002	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	2049352	\N	\N	EFO	4	EFO	experimental factor	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001083	\N	\N	"A reproductive shoot system development stage (PO:0025530) that has as primary participant a inflorescence (PO:0009049)." []	PO:0001083	"A reproductive shoot system development stage (PO:0025530) that has as primary participant a inflorescence (PO:0009049)." []	79321	\N	\N	EFO	0	EFO	inflorescence development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inflorescence development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025530	\N	\N	"A shoot system development stage (PO:0025527) that has as primary participant a reproductive shoot system (PO:0025082)." [POC:Laurel_Cooper]	PO:0001083	"A reproductive shoot system development stage (PO:0025530) that has as primary participant a inflorescence (PO:0009049)." []	195787	\N	\N	EFO	0	EFO	reproductive shoot system development stage	inflorescence development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0001083	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0001083	"A reproductive shoot system development stage (PO:0025530) that has as primary participant a inflorescence (PO:0009049)." []	224416	\N	\N	EFO	1	EFO	plant structure development stage	inflorescence development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0001083	"A reproductive shoot system development stage (PO:0025530) that has as primary participant a inflorescence (PO:0009049)." []	581303	\N	\N	EFO	2	EFO	developmental stage	inflorescence development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0001083	"A reproductive shoot system development stage (PO:0025530) that has as primary participant a inflorescence (PO:0009049)." []	1165346	\N	\N	EFO	3	EFO	process	inflorescence development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0001083	"A reproductive shoot system development stage (PO:0025530) that has as primary participant a inflorescence (PO:0009049)." []	2049353	\N	\N	EFO	4	EFO	experimental factor	inflorescence development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001170	\N	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	PO:0001170	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	79322	\N	\N	EFO	0	EFO	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025571	\N	\N	"A plant structure development stage (PO:0009012) that has as primary participant a multi-tissue plant structure (PO:0025496)." [POC:Laurel_Cooper]	PO:0001170	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	195788	\N	\N	EFO	0	EFO	multi-tissue plant structure development stage	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0001170	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0001170	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	224417	\N	\N	EFO	1	EFO	plant structure development stage	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0001170	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	581304	\N	\N	EFO	2	EFO	developmental stage	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0001170	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	1165347	\N	\N	EFO	3	EFO	process	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0001170	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	2049354	\N	\N	EFO	4	EFO	experimental factor	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0002000	\N	\N	"The epidermal complex consisting of two guard cells and the pore between them." []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	79323	\N	\N	EFO	0	EFO	stomatal complex	stomatal complex
PO:0006035	\N	\N	"A portion of epidermis (PO:0005679) that is part of a shoot system (PO:0009006) and arises from the meristem L1 layer (PO:0009020)." [ISBN:047124529, POC:curators, POC:Laurel_Cooper]	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	195789	\N	\N	EFO	0	EFO	shoot system epidermis	stomatal complex
EFO:0000992	PO:0002000	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	224418	\N	\N	EFO	1	EFO	shoot	stomatal complex
EFO:0001983	PO:0002000	\N	"A leaf component is a plant component which is part of a leaf." []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	224419	\N	\N	EFO	1	EFO	leaf component	stomatal complex
PO:0009006	PO:0002000	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	224420	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stomatal complex
EFO:0000789	EFO:0000992	\N	"" []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	581305	\N	\N	EFO	2	EFO	plant component	stomatal complex
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	581306	\N	\N	EFO	2	EFO	plant anatomical entity	stomatal complex
EFO:0000789	EFO:0001983	\N	"" []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	581307	\N	\N	EFO	2	EFO	plant component	stomatal complex
PO:0025131	EFO:0001983	\N	"An anatomical entity that is or was part of a plant." []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	581308	\N	\N	EFO	2	EFO	plant anatomical entity	stomatal complex
EFO:0000789	PO:0009006	\N	"" []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	581309	\N	\N	EFO	2	EFO	plant component	stomatal complex
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	581310	\N	\N	EFO	2	EFO	plant anatomical entity	stomatal complex
EFO:0000786	EFO:0000789	\N	"" []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	1165348	\N	\N	EFO	3	EFO	anatomy basic component	stomatal complex
EFO:0000786	PO:0025131	\N	"" []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	1165349	\N	\N	EFO	3	EFO	anatomy basic component	stomatal complex
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	2049355	\N	\N	EFO	4	EFO	organism part	stomatal complex
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	3199443	\N	\N	EFO	5	EFO	material entity	stomatal complex
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0002000	"The epidermal complex consisting of two guard cells and the pore between them." []	4404631	\N	\N	EFO	6	EFO	experimental factor	stomatal complex
PO:0003015	\N	\N	"A root differentiation zone that is part of a primary root." []	PO:0003015	"A root differentiation zone that is part of a primary root." []	79324	\N	\N	EFO	0	EFO	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020135	\N	\N	"A plant axis differentiation zone that is the part of a root and is located behind a root elongation zone." [POC:curators]	PO:0003015	"A root differentiation zone that is part of a primary root." []	195790	\N	reference	EFO	0	EFO	root differentiation zone	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020127	PO:0003015	\N	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	PO:0003015	"A root differentiation zone that is part of a primary root." []	224421	\N	\N	EFO	1	EFO	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020127	PO:0003015	\N	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	PO:0003015	"A root differentiation zone that is part of a primary root." []	224422	\N	\N	EFO	1	EFO	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0020127	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0003015	"A root differentiation zone that is part of a primary root." []	581311	\N	\N	EFO	2	EFO	root	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0020127	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0003015	"A root differentiation zone that is part of a primary root." []	581312	\N	\N	EFO	2	EFO	root	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009005	\N	"" []	PO:0003015	"A root differentiation zone that is part of a primary root." []	1165350	\N	\N	EFO	3	EFO	plant component	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0003015	"A root differentiation zone that is part of a primary root." []	1165351	\N	\N	EFO	3	EFO	plant anatomical entity	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0003015	"A root differentiation zone that is part of a primary root." []	2049356	\N	\N	EFO	4	EFO	anatomy basic component	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0003015	"A root differentiation zone that is part of a primary root." []	2049357	\N	\N	EFO	4	EFO	anatomy basic component	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0003015	"A root differentiation zone that is part of a primary root." []	3199444	\N	\N	EFO	5	EFO	organism part	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0003015	"A root differentiation zone that is part of a primary root." []	4404632	\N	\N	EFO	6	EFO	material entity	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0003015	"A root differentiation zone that is part of a primary root." []	5420180	\N	\N	EFO	7	EFO	experimental factor	primary root differentiation zone {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0003023	\N	\N	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	79325	\N	\N	EFO	0	EFO	root nodule	root nodule
EFO:0000989	PO:0003023	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	224423	\N	\N	EFO	1	EFO	root structure	root nodule
PO:0009005	PO:0003023	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	224424	\N	\N	EFO	1	EFO	root	root nodule
PO:0009005	PO:0003023	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	224425	\N	\N	EFO	1	EFO	root	root nodule
PO:0025001	PO:0003023	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	224426	\N	\N	EFO	1	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root nodule
EFO:0000789	EFO:0000989	\N	"" []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	581313	\N	\N	EFO	2	EFO	plant component	root nodule
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	581314	\N	\N	EFO	2	EFO	plant anatomical entity	root nodule
EFO:0000789	PO:0009005	\N	"" []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	581315	\N	\N	EFO	2	EFO	plant component	root nodule
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	581316	\N	\N	EFO	2	EFO	plant anatomical entity	root nodule
EFO:0000786	EFO:0000789	\N	"" []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	1165352	\N	\N	EFO	3	EFO	anatomy basic component	root nodule
EFO:0000786	PO:0025131	\N	"" []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	1165353	\N	\N	EFO	3	EFO	anatomy basic component	root nodule
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	2049358	\N	\N	EFO	4	EFO	organism part	root nodule
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	3199445	\N	\N	EFO	5	EFO	material entity	root nodule
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0003023	"Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria." []	4404633	\N	\N	EFO	6	EFO	experimental factor	root nodule
PO:0004010	\N	\N	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	PO:0004010	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	79326	\N	\N	EFO	0	EFO	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0004010	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0004010	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	224427	\N	\N	EFO	1	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0004010	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0004010	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	224428	\N	\N	EFO	1	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0004010	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	581317	\N	\N	EFO	2	EFO	plant cell	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0004010	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	581318	\N	\N	EFO	2	EFO	plant cell	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000324	PO:0009002	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	PO:0004010	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	1165354	\N	\N	EFO	3	EFO	cell type	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009002	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0004010	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	1165355	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0004010	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	2049359	\N	\N	EFO	4	EFO	material entity	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0004010	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	2049360	\N	\N	EFO	4	EFO	plant anatomical entity	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0004010	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	3199446	\N	\N	EFO	5	EFO	experimental factor	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0004505	\N	\N	"The earliest stage of seed development immediately following double fertilization." []	PO:0004505	"The earliest stage of seed development immediately following double fertilization." []	79327	\N	\N	EFO	0	EFO	fertilized ovule stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fertilized ovule stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001170	PO:0004505	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	PO:0004505	"The earliest stage of seed development immediately following double fertilization." []	224429	\N	\N	EFO	1	EFO	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fertilized ovule stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001170	PO:0004505	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	PO:0004505	"The earliest stage of seed development immediately following double fertilization." []	224430	\N	\N	EFO	1	EFO	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fertilized ovule stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0001170	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0004505	"The earliest stage of seed development immediately following double fertilization." []	581319	\N	\N	EFO	2	EFO	plant structure development stage	fertilized ovule stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0004505	"The earliest stage of seed development immediately following double fertilization." []	1165356	\N	\N	EFO	3	EFO	developmental stage	fertilized ovule stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0004505	"The earliest stage of seed development immediately following double fertilization." []	2049361	\N	\N	EFO	4	EFO	process	fertilized ovule stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0004505	"The earliest stage of seed development immediately following double fertilization." []	3199447	\N	\N	EFO	5	EFO	experimental factor	fertilized ovule stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0004506	\N	\N	"Stage of seed development characterized by seed growth and differentiation." []	PO:0004506	"Stage of seed development characterized by seed growth and differentiation." []	79328	\N	\N	EFO	0	EFO	developing seed stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	developing seed stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001170	PO:0004506	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	PO:0004506	"Stage of seed development characterized by seed growth and differentiation." []	224431	\N	\N	EFO	1	EFO	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	developing seed stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001170	PO:0004506	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	PO:0004506	"Stage of seed development characterized by seed growth and differentiation." []	224432	\N	\N	EFO	1	EFO	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	developing seed stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0001170	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0004506	"Stage of seed development characterized by seed growth and differentiation." []	581320	\N	\N	EFO	2	EFO	plant structure development stage	developing seed stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0004506	"Stage of seed development characterized by seed growth and differentiation." []	1165357	\N	\N	EFO	3	EFO	developmental stage	developing seed stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0004506	"Stage of seed development characterized by seed growth and differentiation." []	2049362	\N	\N	EFO	4	EFO	process	developing seed stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0004506	"Stage of seed development characterized by seed growth and differentiation." []	3199448	\N	\N	EFO	5	EFO	experimental factor	developing seed stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0004518	\N	\N	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	79329	\N	\N	EFO	0	EFO	bark	bark
EFO:0000992	PO:0004518	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	224433	\N	\N	EFO	1	EFO	shoot	bark
PO:0009006	PO:0004518	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	224434	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bark
PO:0009007	PO:0004518	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	224435	\N	\N	EFO	1	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bark
EFO:0000789	EFO:0000992	\N	"" []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	581321	\N	\N	EFO	2	EFO	plant component	bark
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	581322	\N	\N	EFO	2	EFO	plant anatomical entity	bark
EFO:0000789	PO:0009006	\N	"" []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	581323	\N	\N	EFO	2	EFO	plant component	bark
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	581324	\N	\N	EFO	2	EFO	plant anatomical entity	bark
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	581325	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bark
EFO:0000786	EFO:0000789	\N	"" []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	1165358	\N	\N	EFO	3	EFO	anatomy basic component	bark
EFO:0000786	PO:0025131	\N	"" []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	1165359	\N	\N	EFO	3	EFO	anatomy basic component	bark
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	1165360	\N	\N	EFO	3	EFO	plant anatomical entity	bark
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	2049363	\N	\N	EFO	4	EFO	organism part	bark
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	3199449	\N	\N	EFO	5	EFO	material entity	bark
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0004518	"The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm." []	4404634	\N	\N	EFO	6	EFO	experimental factor	bark
PO:0004532	\N	\N	"" []	PO:0004532	"" []	79330	\N	\N	EFO	0	EFO	wood parenchyma	wood parenchyma
PO:0005421	\N	\N	"A portion of ground tissue (PO:0025059) composed of polyhedral cells typically with thin, non-lignified cellulosic cell walls and nucleate, living protoplasts." [POC:curators]	PO:0004532	"" []	195791	\N	TraitNet	EFO	0	EFO	parenchyma	wood parenchyma
PO:0005848	\N	\N	"A portion of xylem (PO:0005352) tissue that develops from a vascular cambium (PO:0005598)." [ISBN:0471245194]	PO:0004532	"" []	195792	\N	TraitNet	EFO	0	EFO	secondary xylem	wood parenchyma
PO:0005352	PO:0004532	\N	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	PO:0004532	"" []	224436	\N	\N	EFO	1	EFO	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	wood parenchyma
PO:0000034	PO:0005352	\N	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	PO:0004532	"" []	581326	\N	\N	EFO	2	EFO	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	wood parenchyma
EFO:0000789	PO:0000034	\N	"" []	PO:0004532	"" []	1165361	\N	\N	EFO	3	EFO	plant component	wood parenchyma
PO:0025131	PO:0000034	\N	"An anatomical entity that is or was part of a plant." []	PO:0004532	"" []	1165362	\N	\N	EFO	3	EFO	plant anatomical entity	wood parenchyma
EFO:0000786	EFO:0000789	\N	"" []	PO:0004532	"" []	2049364	\N	\N	EFO	4	EFO	anatomy basic component	wood parenchyma
EFO:0000786	PO:0025131	\N	"" []	PO:0004532	"" []	2049365	\N	\N	EFO	4	EFO	anatomy basic component	wood parenchyma
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0004532	"" []	3199450	\N	\N	EFO	5	EFO	organism part	wood parenchyma
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0004532	"" []	4404635	\N	\N	EFO	6	EFO	material entity	wood parenchyma
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0004532	"" []	5420181	\N	\N	EFO	7	EFO	experimental factor	wood parenchyma
PO:0004542	\N	\N	"A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves." []	PO:0004542	"A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves." []	79331	\N	\N	EFO	0	EFO	rhizome	rhizome
EFO:0000989	PO:0004542	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0004542	"A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves." []	224437	\N	\N	EFO	1	EFO	root structure	rhizome
PO:0025029	PO:0004542	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0004542	"A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves." []	224438	\N	\N	EFO	1	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	rhizome
EFO:0000789	EFO:0000989	\N	"" []	PO:0004542	"A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves." []	581327	\N	\N	EFO	2	EFO	plant component	rhizome
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0004542	"A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves." []	581328	\N	\N	EFO	2	EFO	plant anatomical entity	rhizome
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0004542	"A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves." []	581329	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	rhizome
EFO:0000786	EFO:0000789	\N	"" []	PO:0004542	"A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves." []	1165363	\N	\N	EFO	3	EFO	anatomy basic component	rhizome
EFO:0000786	PO:0025131	\N	"" []	PO:0004542	"A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves." []	1165364	\N	\N	EFO	3	EFO	anatomy basic component	rhizome
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0004542	"A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves." []	2049366	\N	\N	EFO	4	EFO	organism part	rhizome
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0004542	"A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves." []	3199451	\N	\N	EFO	5	EFO	material entity	rhizome
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0004542	"A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves." []	4404636	\N	\N	EFO	6	EFO	experimental factor	rhizome
PO:0005052	\N	\N	"A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002)." []	PO:0005052	"A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002)." []	79332	\N	\N	EFO	0	EFO	plant callus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant callus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0005052	\N	"" []	PO:0005052	"A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002)." []	224439	\N	\N	EFO	1	EFO	plant component	plant callus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0005052	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0005052	"A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002)." []	224440	\N	\N	EFO	1	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant callus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0005052	\N	"An anatomical entity that is or was part of a plant." []	PO:0005052	"A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002)." []	224441	\N	\N	EFO	1	EFO	plant anatomical entity	plant callus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0005052	"A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002)." []	581330	\N	\N	EFO	2	EFO	anatomy basic component	plant callus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0005052	"A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002)." []	581331	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant callus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0005052	"A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002)." []	581332	\N	\N	EFO	2	EFO	anatomy basic component	plant callus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0005052	"A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002)." []	1165365	\N	\N	EFO	3	EFO	organism part	plant callus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0005052	"A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002)." []	1165366	\N	\N	EFO	3	EFO	plant anatomical entity	plant callus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0005052	"A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002)." []	2049367	\N	\N	EFO	4	EFO	material entity	plant callus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0005052	"A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002)." []	3199452	\N	\N	EFO	5	EFO	experimental factor	plant callus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0005059	\N	\N	"A portion of endodermis that is part of a root cortex." []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	79333	\N	\N	EFO	0	EFO	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000252	\N	\N	"A portion of ground tissue (PO:0025059) that is the inner most layer of a cortex (PO:0005708) and has a casparian strip in its anticlinal cell walls." [ISBN:047124529, POC:curators]	PO:0005059	"A portion of endodermis that is part of a root cortex." []	195793	\N	\N	EFO	0	EFO	endodermis	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000258	PO:0005059	\N	"A portion of ground tissue that is part of a cortext and part of a root" []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	224442	\N	\N	EFO	1	EFO	root cortex	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000258	PO:0005059	\N	"A portion of ground tissue that is part of a cortext and part of a root" []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	224443	\N	\N	EFO	1	EFO	root cortex	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000989	PO:0000258	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	581333	\N	\N	EFO	2	EFO	root structure	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0000258	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	581334	\N	\N	EFO	2	EFO	root	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0000258	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	581335	\N	\N	EFO	2	EFO	root	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000989	\N	"" []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	1165367	\N	\N	EFO	3	EFO	plant component	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	1165368	\N	\N	EFO	3	EFO	plant anatomical entity	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009005	\N	"" []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	1165369	\N	\N	EFO	3	EFO	plant component	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	1165370	\N	\N	EFO	3	EFO	plant anatomical entity	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	2049368	\N	\N	EFO	4	EFO	anatomy basic component	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	2049369	\N	\N	EFO	4	EFO	anatomy basic component	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	3199453	\N	\N	EFO	5	EFO	organism part	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	4404637	\N	\N	EFO	6	EFO	material entity	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0005059	"A portion of endodermis that is part of a root cortex." []	5420182	\N	\N	EFO	7	EFO	experimental factor	root endodermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0005352	\N	\N	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	79334	\N	\N	EFO	0	EFO	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000034	PO:0005352	\N	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	224444	\N	\N	EFO	1	EFO	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009015	PO:0005352	\N	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	224445	\N	\N	EFO	1	EFO	vascular tissue	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0000034	\N	"" []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	581336	\N	\N	EFO	2	EFO	plant component	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0000034	\N	"An anatomical entity that is or was part of a plant." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	581337	\N	\N	EFO	2	EFO	plant anatomical entity	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000034	PO:0009015	\N	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	581338	\N	\N	EFO	2	EFO	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009015	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	581339	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	1165371	\N	\N	EFO	3	EFO	anatomy basic component	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	1165372	\N	\N	EFO	3	EFO	anatomy basic component	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0000034	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	1165373	\N	\N	EFO	3	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0000034	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	1165374	\N	\N	EFO	3	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	2049372	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	2049370	\N	\N	EFO	4	EFO	organism part	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	2049371	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	3000515	\N	\N	EFO	5	EFO	plant anatomical entity	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	3199454	\N	\N	EFO	5	EFO	material entity	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0005352	"A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290)." []	4404638	\N	\N	EFO	6	EFO	experimental factor	xylem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0005360	\N	\N	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	79335	\N	\N	EFO	0	EFO	aleurone layer	aleurone layer
PO:0009007	PO:0005360	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	224446	\N	\N	EFO	1	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	aleurone layer
PO:0009089	PO:0005360	\N	"A maximal portion of nutritive plant tissue in a seed." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	224447	\N	\N	EFO	1	EFO	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	aleurone layer
PO:0009089	PO:0005360	\N	"A maximal portion of nutritive plant tissue in a seed." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	224448	\N	\N	EFO	1	EFO	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	aleurone layer
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	1165379	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	aleurone layer
PO:0009010	PO:0009089	\N	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	581341	\N	\N	EFO	2	EFO	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	aleurone layer
PO:0009007	PO:0009089	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	581342	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	aleurone layer
PO:0009010	PO:0009089	\N	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	581343	\N	\N	EFO	2	EFO	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	aleurone layer
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	1965414	\N	\N	EFO	4	EFO	plant anatomical entity	aleurone layer
EFO:0000789	PO:0009010	\N	"" []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	1165377	\N	\N	EFO	3	EFO	plant component	aleurone layer
PO:0025131	PO:0009010	\N	"An anatomical entity that is or was part of a plant." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	1165378	\N	\N	EFO	3	EFO	plant anatomical entity	aleurone layer
EFO:0000786	EFO:0000789	\N	"" []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	2049374	\N	\N	EFO	4	EFO	anatomy basic component	aleurone layer
EFO:0000786	PO:0025131	\N	"" []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	2049375	\N	\N	EFO	4	EFO	anatomy basic component	aleurone layer
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	3199455	\N	\N	EFO	5	EFO	organism part	aleurone layer
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	4404639	\N	\N	EFO	6	EFO	material entity	aleurone layer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0005360	"A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins." []	5420183	\N	\N	EFO	7	EFO	experimental factor	aleurone layer
PO:0005417	\N	\N	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	79336	\N	\N	EFO	0	EFO	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000034	PO:0005417	\N	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	224449	\N	\N	EFO	1	EFO	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009015	PO:0005417	\N	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	224450	\N	\N	EFO	1	EFO	vascular tissue	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0000034	\N	"" []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	581344	\N	\N	EFO	2	EFO	plant component	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0000034	\N	"An anatomical entity that is or was part of a plant." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	581345	\N	\N	EFO	2	EFO	plant anatomical entity	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000034	PO:0009015	\N	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	581346	\N	\N	EFO	2	EFO	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009015	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	581347	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	1165380	\N	\N	EFO	3	EFO	anatomy basic component	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	1165381	\N	\N	EFO	3	EFO	anatomy basic component	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0000034	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	1165382	\N	\N	EFO	3	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0000034	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	1165383	\N	\N	EFO	3	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	2049378	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	2049376	\N	\N	EFO	4	EFO	organism part	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	2049377	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	3000516	\N	\N	EFO	5	EFO	plant anatomical entity	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	3199456	\N	\N	EFO	5	EFO	material entity	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0005417	"A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406)." []	4404640	\N	\N	EFO	6	EFO	experimental factor	phloem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0005597	\N	\N	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	PO:0005597	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	79337	\N	\N	EFO	0	EFO	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020145	\N	\N	"A portion of meristem (PO:0009013) tissue located parallel to the sides of a shoot axis (PO:0025029) or root (PO:0009005) that participates in lateral growth." [ISBN:047125208]	PO:0005597	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	195794	\N	TraitNet	EFO	0	EFO	lateral meristem	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009013	PO:0005597	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0005597	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	224451	\N	\N	EFO	1	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0005597	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	581348	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0005597	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	1165385	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0005597	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	2049380	\N	\N	EFO	4	EFO	plant component	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0005597	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	2049381	\N	\N	EFO	4	EFO	plant anatomical entity	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0005597	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	3199457	\N	\N	EFO	5	EFO	anatomy basic component	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0005597	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	3199458	\N	\N	EFO	5	EFO	anatomy basic component	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0005597	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	4404641	\N	\N	EFO	6	EFO	organism part	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0005597	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	5420184	\N	\N	EFO	7	EFO	material entity	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0005597	"A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files." []	6154126	\N	\N	EFO	8	EFO	experimental factor	cambium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0005645	\N	\N	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	79338	\N	\N	EFO	0	EFO	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006070	\N	\N	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the leaf or leaf like organs." [GR:Pankaj_Jaiswal]	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	195795	\N	TraitNet	EFO	0	EFO	mesophyll	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0005645	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	224452	\N	\N	EFO	1	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0005645	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	224453	\N	\N	EFO	1	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	581349	\N	\N	EFO	2	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	581350	\N	\N	EFO	2	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	1165386	\N	\N	EFO	3	EFO	shoot	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	1165387	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	1165388	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	2049382	\N	\N	EFO	4	EFO	plant component	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	2049383	\N	\N	EFO	4	EFO	plant anatomical entity	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	2049384	\N	\N	EFO	4	EFO	plant component	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	2049385	\N	\N	EFO	4	EFO	plant anatomical entity	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	3199459	\N	\N	EFO	5	EFO	anatomy basic component	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	3199460	\N	\N	EFO	5	EFO	anatomy basic component	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	4404642	\N	\N	EFO	6	EFO	organism part	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	5420185	\N	\N	EFO	7	EFO	material entity	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0005645	"The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf." []	6154127	\N	\N	EFO	8	EFO	experimental factor	leaf mesophyll {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	\N	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	79339	\N	\N	EFO	0	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009008	\N	\N	"A multi-tissue plant structure (PO:0025496) that is a functional unit, is a proper part of a whole plant (PO:0000003), and includes portions of plant tissue (PO:0009007) of at least two different types that derive from a common developmental path." [POC:curators]	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	195796	\N	TraitNet	EFO	0	EFO	plant organ	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	224454	\N	\N	EFO	1	EFO	shoot	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	224455	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	224456	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	581351	\N	\N	EFO	2	EFO	plant component	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	581352	\N	\N	EFO	2	EFO	plant anatomical entity	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	581353	\N	\N	EFO	2	EFO	plant component	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	581354	\N	\N	EFO	2	EFO	plant anatomical entity	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	1165389	\N	\N	EFO	3	EFO	anatomy basic component	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	1165390	\N	\N	EFO	3	EFO	anatomy basic component	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	2049386	\N	\N	EFO	4	EFO	organism part	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	3199461	\N	\N	EFO	5	EFO	material entity	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0006001	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	4404643	\N	\N	EFO	6	EFO	experimental factor	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006023	\N	\N	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	79340	\N	\N	EFO	0	EFO	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025059	\N	\N	"Any portion of plant tissue (PO:0009007) other than epidermis (PO:0005679) or vascular tissue (PO:0009015)." [ISBN:0471244554, ISBN:0716710072]	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	195797	\N	TraitNet	EFO	0	EFO	portion of ground tissue	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009025	PO:0006023	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	224457	\N	\N	EFO	1	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009025	PO:0006023	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	224458	\N	\N	EFO	1	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	581355	\N	\N	EFO	2	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	581356	\N	\N	EFO	2	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	1165391	\N	\N	EFO	3	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	1165392	\N	\N	EFO	3	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	2049387	\N	\N	EFO	4	EFO	shoot	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	2049388	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	2049389	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	3199462	\N	\N	EFO	5	EFO	plant component	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	3199463	\N	\N	EFO	5	EFO	plant anatomical entity	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	3199464	\N	\N	EFO	5	EFO	plant component	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	3199465	\N	\N	EFO	5	EFO	plant anatomical entity	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	4404644	\N	\N	EFO	6	EFO	anatomy basic component	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	4404645	\N	\N	EFO	6	EFO	anatomy basic component	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	5420186	\N	\N	EFO	7	EFO	organism part	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	6154128	\N	\N	EFO	8	EFO	material entity	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0006023	"A layer or layers of cells surrounding the vascular bundles of leaves. It may consist of parenchyma or sclerenchyma." []	6634775	\N	\N	EFO	9	EFO	experimental factor	bundle sheath {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006036	\N	\N	"A portion of epidermis that is part of a root system." []	PO:0006036	"A portion of epidermis that is part of a root system." []	79341	\N	\N	EFO	0	EFO	root epidermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root epidermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0005679	\N	\N	"A portion of plant tissue (PO:0009007) composed of epidermal cells (PO:0004013) that develops from the protoderm (PO:0006210) and covers the surface of a plant structure (PO:0009011)." [POC:curators]	PO:0006036	"A portion of epidermis that is part of a root system." []	195798	\N	TraitNet	EFO	0	EFO	epidermis	root epidermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025025	\N	\N	"A collective plant organ structure (PO:0025007) that produces root meristems (PO:0006085), the plant structures (PO:0009011) that arise from them and the parts thereof." [POC:curators, POC:Laurel_Cooper]	PO:0006036	"A portion of epidermis that is part of a root system." []	195799	\N	TraitNet	EFO	0	EFO	root system	root epidermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0006036	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0006036	"A portion of epidermis that is part of a root system." []	224459	\N	\N	EFO	1	EFO	root	root epidermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009005	\N	"" []	PO:0006036	"A portion of epidermis that is part of a root system." []	581357	\N	\N	EFO	2	EFO	plant component	root epidermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0006036	"A portion of epidermis that is part of a root system." []	581358	\N	\N	EFO	2	EFO	plant anatomical entity	root epidermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0006036	"A portion of epidermis that is part of a root system." []	1165393	\N	\N	EFO	3	EFO	anatomy basic component	root epidermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0006036	"A portion of epidermis that is part of a root system." []	1165394	\N	\N	EFO	3	EFO	anatomy basic component	root epidermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0006036	"A portion of epidermis that is part of a root system." []	2049390	\N	\N	EFO	4	EFO	organism part	root epidermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0006036	"A portion of epidermis that is part of a root system." []	3199466	\N	\N	EFO	5	EFO	material entity	root epidermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0006036	"A portion of epidermis that is part of a root system." []	4404646	\N	\N	EFO	6	EFO	experimental factor	root epidermis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006057	\N	\N	"The abaxial/lower epidermal cell layer of the cotyledon." []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	79342	\N	\N	EFO	0	EFO	cotyledon abaxial epidermis	cotyledon abaxial epidermis
PO:0006056	\N	\N	"A leaf epidermis that is part of a cotyledon." [POC:Ramona_Walls]	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	195800	\N	\N	EFO	0	EFO	cotyledon epidermis	cotyledon abaxial epidermis
PO:0020030	PO:0006057	\N	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	224460	\N	\N	EFO	1	EFO	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon abaxial epidermis
PO:0009025	PO:0020030	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	581359	\N	\N	EFO	2	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon abaxial epidermis
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	1165395	\N	\N	EFO	3	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon abaxial epidermis
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	2049391	\N	\N	EFO	4	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon abaxial epidermis
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	3199467	\N	\N	EFO	5	EFO	shoot	cotyledon abaxial epidermis
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	3199468	\N	\N	EFO	5	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon abaxial epidermis
EFO:0000789	EFO:0000992	\N	"" []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	4404647	\N	\N	EFO	6	EFO	plant component	cotyledon abaxial epidermis
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	4404648	\N	\N	EFO	6	EFO	plant anatomical entity	cotyledon abaxial epidermis
EFO:0000789	PO:0009006	\N	"" []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	4404649	\N	\N	EFO	6	EFO	plant component	cotyledon abaxial epidermis
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	4404650	\N	\N	EFO	6	EFO	plant anatomical entity	cotyledon abaxial epidermis
EFO:0000786	EFO:0000789	\N	"" []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	5420187	\N	\N	EFO	7	EFO	anatomy basic component	cotyledon abaxial epidermis
EFO:0000786	PO:0025131	\N	"" []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	5420188	\N	\N	EFO	7	EFO	anatomy basic component	cotyledon abaxial epidermis
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	6154129	\N	\N	EFO	8	EFO	organism part	cotyledon abaxial epidermis
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	6634776	\N	\N	EFO	9	EFO	material entity	cotyledon abaxial epidermis
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0006057	"The abaxial/lower epidermal cell layer of the cotyledon." []	6926454	\N	\N	EFO	10	EFO	experimental factor	cotyledon abaxial epidermis
PO:0006058	\N	\N	"The adaxial/upper epidermal cell layer of the cotyledon." []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	79343	\N	\N	EFO	0	EFO	cotyledon adaxial epidermis	cotyledon adaxial epidermis
PO:0006056	\N	\N	"A leaf epidermis that is part of a cotyledon." [POC:Ramona_Walls]	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	195801	\N	\N	EFO	0	EFO	cotyledon epidermis	cotyledon adaxial epidermis
PO:0020030	PO:0006058	\N	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	224461	\N	\N	EFO	1	EFO	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon adaxial epidermis
PO:0009025	PO:0020030	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	581360	\N	\N	EFO	2	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon adaxial epidermis
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	1165396	\N	\N	EFO	3	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon adaxial epidermis
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	2049392	\N	\N	EFO	4	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon adaxial epidermis
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	3199469	\N	\N	EFO	5	EFO	shoot	cotyledon adaxial epidermis
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	3199470	\N	\N	EFO	5	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon adaxial epidermis
EFO:0000789	EFO:0000992	\N	"" []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	4404651	\N	\N	EFO	6	EFO	plant component	cotyledon adaxial epidermis
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	4404652	\N	\N	EFO	6	EFO	plant anatomical entity	cotyledon adaxial epidermis
EFO:0000789	PO:0009006	\N	"" []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	4404653	\N	\N	EFO	6	EFO	plant component	cotyledon adaxial epidermis
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	4404654	\N	\N	EFO	6	EFO	plant anatomical entity	cotyledon adaxial epidermis
EFO:0000786	EFO:0000789	\N	"" []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	5420189	\N	\N	EFO	7	EFO	anatomy basic component	cotyledon adaxial epidermis
EFO:0000786	PO:0025131	\N	"" []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	5420190	\N	\N	EFO	7	EFO	anatomy basic component	cotyledon adaxial epidermis
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	6154130	\N	\N	EFO	8	EFO	organism part	cotyledon adaxial epidermis
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	6634777	\N	\N	EFO	9	EFO	material entity	cotyledon adaxial epidermis
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0006058	"The adaxial/upper epidermal cell layer of the cotyledon." []	6926455	\N	\N	EFO	10	EFO	experimental factor	cotyledon adaxial epidermis
PO:0006085	\N	\N	"A meristem which is part of a root system" []	PO:0006085	"A meristem which is part of a root system" []	79345	\N	\N	EFO	0	EFO	root meristem	root meristem
PO:0025025	\N	\N	"A collective plant organ structure (PO:0025007) that produces root meristems (PO:0006085), the plant structures (PO:0009011) that arise from them and the parts thereof." [POC:curators, POC:Laurel_Cooper]	PO:0006085	"A meristem which is part of a root system" []	195805	\N	TraitNet	EFO	0	EFO	root system	root meristem
PO:0000025	PO:0006085	\N	"The portion of the root including the meristem and the root cap." []	PO:0006085	"A meristem which is part of a root system" []	224462	\N	\N	EFO	1	EFO	root tip	root meristem
PO:0009013	PO:0006085	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0006085	"A meristem which is part of a root system" []	224463	\N	\N	EFO	1	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root meristem
EFO:0000989	PO:0000025	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0006085	"A meristem which is part of a root system" []	581361	\N	\N	EFO	2	EFO	root structure	root meristem
PO:0009005	PO:0000025	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0006085	"A meristem which is part of a root system" []	581362	\N	\N	EFO	2	EFO	root	root meristem
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0006085	"A meristem which is part of a root system" []	581363	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root meristem
EFO:0000789	EFO:0000989	\N	"" []	PO:0006085	"A meristem which is part of a root system" []	1165397	\N	\N	EFO	3	EFO	plant component	root meristem
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0006085	"A meristem which is part of a root system" []	1165398	\N	\N	EFO	3	EFO	plant anatomical entity	root meristem
EFO:0000789	PO:0009005	\N	"" []	PO:0006085	"A meristem which is part of a root system" []	1165399	\N	\N	EFO	3	EFO	plant component	root meristem
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0006085	"A meristem which is part of a root system" []	1165400	\N	\N	EFO	3	EFO	plant anatomical entity	root meristem
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0006085	"A meristem which is part of a root system" []	1165401	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root meristem
EFO:0000786	EFO:0000789	\N	"" []	PO:0006085	"A meristem which is part of a root system" []	2049393	\N	\N	EFO	4	EFO	anatomy basic component	root meristem
EFO:0000786	PO:0025131	\N	"" []	PO:0006085	"A meristem which is part of a root system" []	2049394	\N	\N	EFO	4	EFO	anatomy basic component	root meristem
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0006085	"A meristem which is part of a root system" []	2049395	\N	\N	EFO	4	EFO	plant anatomical entity	root meristem
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0006085	"A meristem which is part of a root system" []	3199471	\N	\N	EFO	5	EFO	organism part	root meristem
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0006085	"A meristem which is part of a root system" []	4404655	\N	\N	EFO	6	EFO	material entity	root meristem
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0006085	"A meristem which is part of a root system" []	5420191	\N	\N	EFO	7	EFO	experimental factor	root meristem
PO:0006204	\N	\N	"A native plant cell (PO:0025606) which is diploid (2n), and undergoes meiosis (GO:0007126) to produce four haploid (1n) plant spores (PO:0025017)." []	PO:0006204	"A native plant cell (PO:0025606) which is diploid (2n), and undergoes meiosis (GO:0007126) to produce four haploid (1n) plant spores (PO:0025017)." []	79346	\N	\N	EFO	0	EFO	sporocyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporocyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025094	\N	\N	"A plant organ (PO:0009008) in which plant spores (PO:0025017) are produced." [ISBN:0716710072, POC:curators]	PO:0006204	"A native plant cell (PO:0025606) which is diploid (2n), and undergoes meiosis (GO:0007126) to produce four haploid (1n) plant spores (PO:0025017)." []	195806	\N	Bryophytes,TraitNet	EFO	0	EFO	sporangium	sporocyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0006204	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0006204	"A native plant cell (PO:0025606) which is diploid (2n), and undergoes meiosis (GO:0007126) to produce four haploid (1n) plant spores (PO:0025017)." []	224464	\N	\N	EFO	1	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporocyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0006204	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0006204	"A native plant cell (PO:0025606) which is diploid (2n), and undergoes meiosis (GO:0007126) to produce four haploid (1n) plant spores (PO:0025017)." []	224465	\N	\N	EFO	1	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporocyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0006204	"A native plant cell (PO:0025606) which is diploid (2n), and undergoes meiosis (GO:0007126) to produce four haploid (1n) plant spores (PO:0025017)." []	581364	\N	\N	EFO	2	EFO	plant cell	sporocyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0006204	"A native plant cell (PO:0025606) which is diploid (2n), and undergoes meiosis (GO:0007126) to produce four haploid (1n) plant spores (PO:0025017)." []	581365	\N	\N	EFO	2	EFO	plant cell	sporocyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000324	PO:0009002	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	PO:0006204	"A native plant cell (PO:0025606) which is diploid (2n), and undergoes meiosis (GO:0007126) to produce four haploid (1n) plant spores (PO:0025017)." []	1165402	\N	\N	EFO	3	EFO	cell type	sporocyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009002	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0006204	"A native plant cell (PO:0025606) which is diploid (2n), and undergoes meiosis (GO:0007126) to produce four haploid (1n) plant spores (PO:0025017)." []	1165403	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporocyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0006204	"A native plant cell (PO:0025606) which is diploid (2n), and undergoes meiosis (GO:0007126) to produce four haploid (1n) plant spores (PO:0025017)." []	2049396	\N	\N	EFO	4	EFO	material entity	sporocyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0006204	"A native plant cell (PO:0025606) which is diploid (2n), and undergoes meiosis (GO:0007126) to produce four haploid (1n) plant spores (PO:0025017)." []	2049397	\N	\N	EFO	4	EFO	plant anatomical entity	sporocyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0006204	"A native plant cell (PO:0025606) which is diploid (2n), and undergoes meiosis (GO:0007126) to produce four haploid (1n) plant spores (PO:0025017)." []	3199472	\N	\N	EFO	5	EFO	experimental factor	sporocyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006220	\N	\N	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	79347	\N	\N	EFO	0	EFO	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0006220	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	224466	\N	\N	EFO	1	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009089	PO:0006220	\N	"A maximal portion of nutritive plant tissue in a seed." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	224467	\N	\N	EFO	1	EFO	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009089	PO:0006220	\N	"A maximal portion of nutritive plant tissue in a seed." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	224468	\N	\N	EFO	1	EFO	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	1165407	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009010	PO:0009089	\N	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	581367	\N	\N	EFO	2	EFO	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009089	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	581368	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009010	PO:0009089	\N	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	581369	\N	\N	EFO	2	EFO	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	1965415	\N	\N	EFO	4	EFO	plant anatomical entity	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009010	\N	"" []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	1165405	\N	\N	EFO	3	EFO	plant component	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009010	\N	"An anatomical entity that is or was part of a plant." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	1165406	\N	\N	EFO	3	EFO	plant anatomical entity	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	2049398	\N	\N	EFO	4	EFO	anatomy basic component	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	2049399	\N	\N	EFO	4	EFO	anatomy basic component	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	3199473	\N	\N	EFO	5	EFO	organism part	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	4404656	\N	\N	EFO	6	EFO	material entity	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0006220	"A portion of plant tissue that is the central region of an endosperm, composed of cells that are significantly larger than those at the periphery, especially the aleurone and sub-aleurone layers." []	5420192	\N	\N	EFO	7	EFO	experimental factor	central endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006338	\N	\N	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	79348	\N	\N	EFO	0	EFO	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009009	PO:0006338	\N	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	224469	\N	\N	EFO	1	EFO	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009025	PO:0006338	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	224470	\N	\N	EFO	1	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009025	PO:0006338	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	224471	\N	\N	EFO	1	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0009009	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	581370	\N	\N	EFO	2	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	581371	\N	\N	EFO	2	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	581372	\N	\N	EFO	2	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	1165408	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	1165409	\N	\N	EFO	3	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	1165410	\N	\N	EFO	3	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	2049400	\N	\N	EFO	4	EFO	plant anatomical entity	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	2049401	\N	\N	EFO	4	EFO	shoot	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	2049402	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	2049403	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	3199474	\N	\N	EFO	5	EFO	plant component	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	3199475	\N	\N	EFO	5	EFO	plant anatomical entity	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	3199476	\N	\N	EFO	5	EFO	plant component	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	3199477	\N	\N	EFO	5	EFO	plant anatomical entity	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	4404657	\N	\N	EFO	6	EFO	anatomy basic component	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	4404658	\N	\N	EFO	6	EFO	anatomy basic component	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	5420193	\N	\N	EFO	7	EFO	organism part	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	6154131	\N	\N	EFO	8	EFO	material entity	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0006338	"A vascular leaf that is part of a plant embryo and is one of the first few leaves to develop from the embryonic shoot apical meristem." []	6634778	\N	\N	EFO	9	EFO	experimental factor	embryo leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007001	\N	\N	"The early stage in fruit ripening." []	PO:0007001	"The early stage in fruit ripening." []	79350	\N	\N	EFO	0	EFO	early whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	early whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007010	PO:0007001	\N	"Maturation of the fruit." []	PO:0007001	"The early stage in fruit ripening." []	224472	\N	\N	EFO	1	EFO	whole plant fruit ripening stage	early whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007010	PO:0007001	\N	"Maturation of the fruit." []	PO:0007001	"The early stage in fruit ripening." []	224473	\N	\N	EFO	1	EFO	whole plant fruit ripening stage	early whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007010	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007001	"The early stage in fruit ripening." []	581373	\N	\N	EFO	2	EFO	sporophyte development stage	early whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007001	"The early stage in fruit ripening." []	1165411	\N	\N	EFO	3	EFO	plant structure development stage	early whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007001	"The early stage in fruit ripening." []	2049404	\N	\N	EFO	4	EFO	developmental stage	early whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007001	"The early stage in fruit ripening." []	3199478	\N	\N	EFO	5	EFO	process	early whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007001	"The early stage in fruit ripening." []	4404659	\N	\N	EFO	6	EFO	experimental factor	early whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007006	\N	\N	"An inflorescence detectable phase during which an inflorescence is just visible, but has not yet reach one quarter of its full length. Includes the time when the inflorescence can be seen by removing outer leaves or bracts, or when the inflorescence is visible as a swelling of the outer leaves or bracts, such as booting in Zea. This phase can only be used if the final length of the inflorescence is known." []	PO:0007006	"An inflorescence detectable phase during which an inflorescence is just visible, but has not yet reach one quarter of its full length. Includes the time when the inflorescence can be seen by removing outer leaves or bracts, or when the inflorescence is visible as a swelling of the outer leaves or bracts, such as booting in Zea. This phase can only be used if the final length of the inflorescence is known." []	79351	\N	\N	EFO	0	EFO	IL.00 inflorescence just visible stage	IL.00 inflorescence just visible stage
PO:0007047	PO:0007006	\N	"A reproductive growth stage during which an inflorescence is detectable.\\n\\nThis includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families." []	PO:0007006	"An inflorescence detectable phase during which an inflorescence is just visible, but has not yet reach one quarter of its full length. Includes the time when the inflorescence can be seen by removing outer leaves or bracts, or when the inflorescence is visible as a swelling of the outer leaves or bracts, such as booting in Zea. This phase can only be used if the final length of the inflorescence is known." []	224474	\N	\N	EFO	1	EFO	3 inflorescence detectable stage	IL.00 inflorescence just visible stage
PO:0028002	PO:0007006	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007006	"An inflorescence detectable phase during which an inflorescence is just visible, but has not yet reach one quarter of its full length. Includes the time when the inflorescence can be seen by removing outer leaves or bracts, or when the inflorescence is visible as a swelling of the outer leaves or bracts, such as booting in Zea. This phase can only be used if the final length of the inflorescence is known." []	224475	\N	\N	EFO	1	EFO	sporophyte development stage	IL.00 inflorescence just visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007006	"An inflorescence detectable phase during which an inflorescence is just visible, but has not yet reach one quarter of its full length. Includes the time when the inflorescence can be seen by removing outer leaves or bracts, or when the inflorescence is visible as a swelling of the outer leaves or bracts, such as booting in Zea. This phase can only be used if the final length of the inflorescence is known." []	581374	\N	\N	EFO	2	EFO	plant structure development stage	IL.00 inflorescence just visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007006	"An inflorescence detectable phase during which an inflorescence is just visible, but has not yet reach one quarter of its full length. Includes the time when the inflorescence can be seen by removing outer leaves or bracts, or when the inflorescence is visible as a swelling of the outer leaves or bracts, such as booting in Zea. This phase can only be used if the final length of the inflorescence is known." []	1165412	\N	\N	EFO	3	EFO	developmental stage	IL.00 inflorescence just visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007006	"An inflorescence detectable phase during which an inflorescence is just visible, but has not yet reach one quarter of its full length. Includes the time when the inflorescence can be seen by removing outer leaves or bracts, or when the inflorescence is visible as a swelling of the outer leaves or bracts, such as booting in Zea. This phase can only be used if the final length of the inflorescence is known." []	2049405	\N	\N	EFO	4	EFO	process	IL.00 inflorescence just visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007006	"An inflorescence detectable phase during which an inflorescence is just visible, but has not yet reach one quarter of its full length. Includes the time when the inflorescence can be seen by removing outer leaves or bracts, or when the inflorescence is visible as a swelling of the outer leaves or bracts, such as booting in Zea. This phase can only be used if the final length of the inflorescence is known." []	3199479	\N	\N	EFO	5	EFO	experimental factor	IL.00 inflorescence just visible stage
PO:0007010	\N	\N	"Maturation of the fruit." []	PO:0007010	"Maturation of the fruit." []	79352	\N	\N	EFO	0	EFO	whole plant fruit ripening stage	whole plant fruit ripening stage
PO:0025500	\N	\N	"A sporophyte reproductive stage that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503), and ends with the earliest of the following: (1) the whole plant begins a sporophyte senescent stage (PO:0007017), (2) the whole plant begins a sporophyte dormant stage (PO:0007132), or (3) all fruits on the whole plant are finished ripening." [POC:curators]	PO:0007010	"Maturation of the fruit." []	195809	\N	Angiosperm,Maize	EFO	0	EFO	whole plant fruit development stage	whole plant fruit ripening stage
PO:0028002	PO:0007010	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007010	"Maturation of the fruit." []	224476	\N	\N	EFO	1	EFO	sporophyte development stage	whole plant fruit ripening stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007010	"Maturation of the fruit." []	581375	\N	\N	EFO	2	EFO	plant structure development stage	whole plant fruit ripening stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007010	"Maturation of the fruit." []	1165413	\N	\N	EFO	3	EFO	developmental stage	whole plant fruit ripening stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007010	"Maturation of the fruit." []	2049406	\N	\N	EFO	4	EFO	process	whole plant fruit ripening stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007010	"Maturation of the fruit." []	3199480	\N	\N	EFO	5	EFO	experimental factor	whole plant fruit ripening stage
PO:0007014	\N	\N	"An inflorescence detectable phase characterized by a swelling of the flag leaf sheath, caused by an increase in the size of the inflorescence as it grows up the leaf sheath." []	PO:0007014	"An inflorescence detectable phase characterized by a swelling of the flag leaf sheath, caused by an increase in the size of the inflorescence as it grows up the leaf sheath." []	79353	\N	\N	EFO	0	EFO	booting stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	booting stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007006	PO:0007014	\N	"An inflorescence detectable phase during which an inflorescence is just visible, but has not yet reach one quarter of its full length. Includes the time when the inflorescence can be seen by removing outer leaves or bracts, or when the inflorescence is visible as a swelling of the outer leaves or bracts, such as booting in Zea. This phase can only be used if the final length of the inflorescence is known." []	PO:0007014	"An inflorescence detectable phase characterized by a swelling of the flag leaf sheath, caused by an increase in the size of the inflorescence as it grows up the leaf sheath." []	224477	\N	\N	EFO	1	EFO	IL.00 inflorescence just visible stage	booting stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007006	PO:0007014	\N	"An inflorescence detectable phase during which an inflorescence is just visible, but has not yet reach one quarter of its full length. Includes the time when the inflorescence can be seen by removing outer leaves or bracts, or when the inflorescence is visible as a swelling of the outer leaves or bracts, such as booting in Zea. This phase can only be used if the final length of the inflorescence is known." []	PO:0007014	"An inflorescence detectable phase characterized by a swelling of the flag leaf sheath, caused by an increase in the size of the inflorescence as it grows up the leaf sheath." []	224478	\N	\N	EFO	1	EFO	IL.00 inflorescence just visible stage	booting stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007006	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007014	"An inflorescence detectable phase characterized by a swelling of the flag leaf sheath, caused by an increase in the size of the inflorescence as it grows up the leaf sheath." []	581376	\N	\N	EFO	2	EFO	sporophyte development stage	booting stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007047	PO:0007006	\N	"A reproductive growth stage during which an inflorescence is detectable.\\n\\nThis includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families." []	PO:0007014	"An inflorescence detectable phase characterized by a swelling of the flag leaf sheath, caused by an increase in the size of the inflorescence as it grows up the leaf sheath." []	581377	\N	\N	EFO	2	EFO	3 inflorescence detectable stage	booting stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007014	"An inflorescence detectable phase characterized by a swelling of the flag leaf sheath, caused by an increase in the size of the inflorescence as it grows up the leaf sheath." []	1165414	\N	\N	EFO	3	EFO	plant structure development stage	booting stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007014	"An inflorescence detectable phase characterized by a swelling of the flag leaf sheath, caused by an increase in the size of the inflorescence as it grows up the leaf sheath." []	2049407	\N	\N	EFO	4	EFO	developmental stage	booting stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007014	"An inflorescence detectable phase characterized by a swelling of the flag leaf sheath, caused by an increase in the size of the inflorescence as it grows up the leaf sheath." []	3199481	\N	\N	EFO	5	EFO	process	booting stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007014	"An inflorescence detectable phase characterized by a swelling of the flag leaf sheath, caused by an increase in the size of the inflorescence as it grows up the leaf sheath." []	4404660	\N	\N	EFO	6	EFO	experimental factor	booting stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007015	\N	\N	"A root development stage during which a radicle  emerges from the seed coat." []	PO:0007015	"A root development stage during which a radicle  emerges from the seed coat." []	79354	\N	\N	EFO	0	EFO	radicle emergence	radicle emergence
PO:0007520	\N	\N	"Stages of development of a root defined by characteristic morphological, structural, histological or other visible features." [GR:Anuradha_Pujar]	PO:0007015	"A root development stage during which a radicle  emerges from the seed coat." []	195810	\N	\N	EFO	0	EFO	root development stage	radicle emergence
PO:0007057	PO:0007015	\N	"The resumption of growth by the embryo in a seed." []	PO:0007015	"A root development stage during which a radicle  emerges from the seed coat." []	224479	\N	\N	EFO	1	EFO	0 seed germination stage	radicle emergence
PO:0007057	PO:0007015	\N	"The resumption of growth by the embryo in a seed." []	PO:0007015	"A root development stage during which a radicle  emerges from the seed coat." []	224480	\N	\N	EFO	1	EFO	0 seed germination stage	radicle emergence
PO:0028002	PO:0007057	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007015	"A root development stage during which a radicle  emerges from the seed coat." []	581378	\N	\N	EFO	2	EFO	sporophyte development stage	radicle emergence
PO:0007134	PO:0007057	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007015	"A root development stage during which a radicle  emerges from the seed coat." []	581379	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	radicle emergence
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007015	"A root development stage during which a radicle  emerges from the seed coat." []	1165415	\N	\N	EFO	3	EFO	plant structure development stage	radicle emergence
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007015	"A root development stage during which a radicle  emerges from the seed coat." []	1165416	\N	\N	EFO	3	EFO	sporophyte development stage	radicle emergence
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007015	"A root development stage during which a radicle  emerges from the seed coat." []	2049408	\N	\N	EFO	4	EFO	developmental stage	radicle emergence
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007015	"A root development stage during which a radicle  emerges from the seed coat." []	3199482	\N	\N	EFO	5	EFO	process	radicle emergence
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007015	"A root development stage during which a radicle  emerges from the seed coat." []	4404661	\N	\N	EFO	6	EFO	experimental factor	radicle emergence
PO:0007016	\N	\N	"The stage at which any flower(s) on the plant are open." []	PO:0007016	"The stage at which any flower(s) on the plant are open." []	79355	\N	\N	EFO	0	EFO	whole plant flowering stage	whole plant flowering stage
PO:0007130	\N	\N	"A sporophyte development stage that occurs during the interval between the initiation of a sporangium and the onset of senescence." [POC:curators]	PO:0007016	"The stage at which any flower(s) on the plant are open." []	195811	\N	\N	EFO	0	EFO	sporophyte reproductive stage	whole plant flowering stage
PO:0028002	PO:0007016	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007016	"The stage at which any flower(s) on the plant are open." []	224481	\N	\N	EFO	1	EFO	sporophyte development stage	whole plant flowering stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007016	"The stage at which any flower(s) on the plant are open." []	581380	\N	\N	EFO	2	EFO	plant structure development stage	whole plant flowering stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007016	"The stage at which any flower(s) on the plant are open." []	1165417	\N	\N	EFO	3	EFO	developmental stage	whole plant flowering stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007016	"The stage at which any flower(s) on the plant are open." []	2049409	\N	\N	EFO	4	EFO	process	whole plant flowering stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007016	"The stage at which any flower(s) on the plant are open." []	3199483	\N	\N	EFO	5	EFO	experimental factor	whole plant flowering stage
PO:0007017	\N	\N	"Senescence complete; ready for seed harvest." []	PO:0007017	"Senescence complete; ready for seed harvest." []	79356	\N	\N	EFO	0	EFO	sporophyte senescent stage	sporophyte senescent stage
PO:0028002	PO:0007017	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007017	"Senescence complete; ready for seed harvest." []	224482	\N	\N	EFO	1	EFO	sporophyte development stage	sporophyte senescent stage
PO:0028002	PO:0007017	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007017	"Senescence complete; ready for seed harvest." []	224483	\N	\N	EFO	1	EFO	sporophyte development stage	sporophyte senescent stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007017	"Senescence complete; ready for seed harvest." []	581381	\N	\N	EFO	2	EFO	plant structure development stage	sporophyte senescent stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007017	"Senescence complete; ready for seed harvest." []	1165418	\N	\N	EFO	3	EFO	developmental stage	sporophyte senescent stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007017	"Senescence complete; ready for seed harvest." []	2049410	\N	\N	EFO	4	EFO	process	sporophyte senescent stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007017	"Senescence complete; ready for seed harvest." []	3199484	\N	\N	EFO	5	EFO	experimental factor	sporophyte senescent stage
PO:0007022	\N	\N	"A germination stage during which there is absorption of water by the seed." []	PO:0007022	"A germination stage during which there is absorption of water by the seed." []	79357	\N	\N	EFO	0	EFO	seed imbibition stage	seed imbibition stage
PO:0007057	PO:0007022	\N	"The resumption of growth by the embryo in a seed." []	PO:0007022	"A germination stage during which there is absorption of water by the seed." []	224484	\N	\N	EFO	1	EFO	0 seed germination stage	seed imbibition stage
PO:0007057	PO:0007022	\N	"The resumption of growth by the embryo in a seed." []	PO:0007022	"A germination stage during which there is absorption of water by the seed." []	224485	\N	\N	EFO	1	EFO	0 seed germination stage	seed imbibition stage
PO:0028002	PO:0007057	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007022	"A germination stage during which there is absorption of water by the seed." []	581382	\N	\N	EFO	2	EFO	sporophyte development stage	seed imbibition stage
PO:0007134	PO:0007057	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007022	"A germination stage during which there is absorption of water by the seed." []	581383	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seed imbibition stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007022	"A germination stage during which there is absorption of water by the seed." []	1165419	\N	\N	EFO	3	EFO	plant structure development stage	seed imbibition stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007022	"A germination stage during which there is absorption of water by the seed." []	1165420	\N	\N	EFO	3	EFO	sporophyte development stage	seed imbibition stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007022	"A germination stage during which there is absorption of water by the seed." []	2049411	\N	\N	EFO	4	EFO	developmental stage	seed imbibition stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007022	"A germination stage during which there is absorption of water by the seed." []	3199485	\N	\N	EFO	5	EFO	process	seed imbibition stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007022	"A germination stage during which there is absorption of water by the seed." []	4404662	\N	\N	EFO	6	EFO	experimental factor	seed imbibition stage
PO:0007024	\N	\N	"The stage at which flowering is complete." []	PO:0007024	"The stage at which flowering is complete." []	79358	\N	\N	EFO	0	EFO	FL.04 end of flowering stage	FL.04 end of flowering stage
PO:0007016	PO:0007024	\N	"The stage at which any flower(s) on the plant are open." []	PO:0007024	"The stage at which flowering is complete." []	224486	\N	\N	EFO	1	EFO	whole plant flowering stage	FL.04 end of flowering stage
PO:0007016	PO:0007024	\N	"The stage at which any flower(s) on the plant are open." []	PO:0007024	"The stage at which flowering is complete." []	224487	\N	\N	EFO	1	EFO	whole plant flowering stage	FL.04 end of flowering stage
PO:0028002	PO:0007016	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007024	"The stage at which flowering is complete." []	581384	\N	\N	EFO	2	EFO	sporophyte development stage	FL.04 end of flowering stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007024	"The stage at which flowering is complete." []	1165421	\N	\N	EFO	3	EFO	plant structure development stage	FL.04 end of flowering stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007024	"The stage at which flowering is complete." []	2049412	\N	\N	EFO	4	EFO	developmental stage	FL.04 end of flowering stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007024	"The stage at which flowering is complete." []	3199486	\N	\N	EFO	5	EFO	process	FL.04 end of flowering stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007024	"The stage at which flowering is complete." []	4404663	\N	\N	EFO	6	EFO	experimental factor	FL.04 end of flowering stage
PO:0007026	\N	\N	"The stage at which the first flower(s) open." []	PO:0007026	"The stage at which the first flower(s) open." []	79359	\N	\N	EFO	0	EFO	FL.00 first flower(s) open stage	FL.00 first flower(s) open stage
PO:0007016	PO:0007026	\N	"The stage at which any flower(s) on the plant are open." []	PO:0007026	"The stage at which the first flower(s) open." []	224488	\N	\N	EFO	1	EFO	whole plant flowering stage	FL.00 first flower(s) open stage
PO:0007016	PO:0007026	\N	"The stage at which any flower(s) on the plant are open." []	PO:0007026	"The stage at which the first flower(s) open." []	224489	\N	\N	EFO	1	EFO	whole plant flowering stage	FL.00 first flower(s) open stage
PO:0028002	PO:0007016	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007026	"The stage at which the first flower(s) open." []	581385	\N	\N	EFO	2	EFO	sporophyte development stage	FL.00 first flower(s) open stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007026	"The stage at which the first flower(s) open." []	1165422	\N	\N	EFO	3	EFO	plant structure development stage	FL.00 first flower(s) open stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007026	"The stage at which the first flower(s) open." []	2049413	\N	\N	EFO	4	EFO	developmental stage	FL.00 first flower(s) open stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007026	"The stage at which the first flower(s) open." []	3199487	\N	\N	EFO	5	EFO	process	FL.00 first flower(s) open stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007026	"The stage at which the first flower(s) open." []	4404664	\N	\N	EFO	6	EFO	experimental factor	FL.00 first flower(s) open stage
PO:0007027	\N	\N	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 70% of its final size to its final size." []	PO:0007027	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 70% of its final size to its final size." []	79360	\N	\N	EFO	0	EFO	whole plant fruit formation stage 70% to final size {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	whole plant fruit formation stage 70% to final size {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007042	PO:0007027	\N	"A whole plant fruit development stage (PO:0025500) that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503) and ends with the onset of a whole plant fruit ripening stage (PO:0007010). [ Poc:curators ] " []	PO:0007027	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 70% of its final size to its final size." []	224490	\N	\N	EFO	1	EFO	whole plant fruit formation stage	whole plant fruit formation stage 70% to final size {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007042	PO:0007027	\N	"A whole plant fruit development stage (PO:0025500) that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503) and ends with the onset of a whole plant fruit ripening stage (PO:0007010). [ Poc:curators ] " []	PO:0007027	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 70% of its final size to its final size." []	224491	\N	\N	EFO	1	EFO	whole plant fruit formation stage	whole plant fruit formation stage 70% to final size {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007042	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007027	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 70% of its final size to its final size." []	581386	\N	\N	EFO	2	EFO	plant structure development stage	whole plant fruit formation stage 70% to final size {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007027	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 70% of its final size to its final size." []	1165423	\N	\N	EFO	3	EFO	developmental stage	whole plant fruit formation stage 70% to final size {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007027	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 70% of its final size to its final size." []	2049414	\N	\N	EFO	4	EFO	process	whole plant fruit formation stage 70% to final size {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007027	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 70% of its final size to its final size." []	3199488	\N	\N	EFO	5	EFO	experimental factor	whole plant fruit formation stage 70% to final size {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007029	\N	\N	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 30% to 50% of its final size." []	PO:0007029	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 30% to 50% of its final size." []	79361	\N	\N	EFO	0	EFO	whole plant fruit formation stage 30 to 50% {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	whole plant fruit formation stage 30 to 50% {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007042	PO:0007029	\N	"A whole plant fruit development stage (PO:0025500) that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503) and ends with the onset of a whole plant fruit ripening stage (PO:0007010). [ Poc:curators ] " []	PO:0007029	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 30% to 50% of its final size." []	224492	\N	\N	EFO	1	EFO	whole plant fruit formation stage	whole plant fruit formation stage 30 to 50% {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007042	PO:0007029	\N	"A whole plant fruit development stage (PO:0025500) that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503) and ends with the onset of a whole plant fruit ripening stage (PO:0007010). [ Poc:curators ] " []	PO:0007029	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 30% to 50% of its final size." []	224493	\N	\N	EFO	1	EFO	whole plant fruit formation stage	whole plant fruit formation stage 30 to 50% {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007042	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007029	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 30% to 50% of its final size." []	581387	\N	\N	EFO	2	EFO	plant structure development stage	whole plant fruit formation stage 30 to 50% {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007029	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 30% to 50% of its final size." []	1165424	\N	\N	EFO	3	EFO	developmental stage	whole plant fruit formation stage 30 to 50% {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007029	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 30% to 50% of its final size." []	2049415	\N	\N	EFO	4	EFO	process	whole plant fruit formation stage 30 to 50% {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007029	"A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 30% to 50% of its final size." []	3199489	\N	\N	EFO	5	EFO	experimental factor	whole plant fruit formation stage 30 to 50% {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007031	\N	\N	"The stage when fruit ripening is midway." []	PO:0007031	"The stage when fruit ripening is midway." []	79362	\N	\N	EFO	0	EFO	mid whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	mid whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007010	PO:0007031	\N	"Maturation of the fruit." []	PO:0007031	"The stage when fruit ripening is midway." []	224494	\N	\N	EFO	1	EFO	whole plant fruit ripening stage	mid whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007010	PO:0007031	\N	"Maturation of the fruit." []	PO:0007031	"The stage when fruit ripening is midway." []	224495	\N	\N	EFO	1	EFO	whole plant fruit ripening stage	mid whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007010	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007031	"The stage when fruit ripening is midway." []	581388	\N	\N	EFO	2	EFO	sporophyte development stage	mid whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007031	"The stage when fruit ripening is midway." []	1165425	\N	\N	EFO	3	EFO	plant structure development stage	mid whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007031	"The stage when fruit ripening is midway." []	2049416	\N	\N	EFO	4	EFO	developmental stage	mid whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007031	"The stage when fruit ripening is midway." []	3199490	\N	\N	EFO	5	EFO	process	mid whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007031	"The stage when fruit ripening is midway." []	4404665	\N	\N	EFO	6	EFO	experimental factor	mid whole plant fruit ripening stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007036	\N	\N	"" []	PO:0007036	"" []	79363	\N	\N	EFO	0	EFO	beginning of whole plant fruit ripening stage	beginning of whole plant fruit ripening stage
PO:0007010	PO:0007036	\N	"Maturation of the fruit." []	PO:0007036	"" []	224496	\N	\N	EFO	1	EFO	whole plant fruit ripening stage	beginning of whole plant fruit ripening stage
PO:0007010	PO:0007036	\N	"Maturation of the fruit." []	PO:0007036	"" []	224497	\N	\N	EFO	1	EFO	whole plant fruit ripening stage	beginning of whole plant fruit ripening stage
PO:0028002	PO:0007010	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007036	"" []	581389	\N	\N	EFO	2	EFO	sporophyte development stage	beginning of whole plant fruit ripening stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007036	"" []	1165426	\N	\N	EFO	3	EFO	plant structure development stage	beginning of whole plant fruit ripening stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007036	"" []	2049417	\N	\N	EFO	4	EFO	developmental stage	beginning of whole plant fruit ripening stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007036	"" []	3199491	\N	\N	EFO	5	EFO	process	beginning of whole plant fruit ripening stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007036	"" []	4404666	\N	\N	EFO	6	EFO	experimental factor	beginning of whole plant fruit ripening stage
PO:0007038	\N	\N	"The stage at which fruit ripening is complete." []	PO:0007038	"The stage at which fruit ripening is complete." []	79364	\N	\N	EFO	0	EFO	whole plant fruit ripening complete stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	whole plant fruit ripening complete stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007010	PO:0007038	\N	"Maturation of the fruit." []	PO:0007038	"The stage at which fruit ripening is complete." []	224498	\N	\N	EFO	1	EFO	whole plant fruit ripening stage	whole plant fruit ripening complete stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007010	PO:0007038	\N	"Maturation of the fruit." []	PO:0007038	"The stage at which fruit ripening is complete." []	224499	\N	\N	EFO	1	EFO	whole plant fruit ripening stage	whole plant fruit ripening complete stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007010	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007038	"The stage at which fruit ripening is complete." []	581390	\N	\N	EFO	2	EFO	sporophyte development stage	whole plant fruit ripening complete stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007038	"The stage at which fruit ripening is complete." []	1165427	\N	\N	EFO	3	EFO	plant structure development stage	whole plant fruit ripening complete stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007038	"The stage at which fruit ripening is complete." []	2049418	\N	\N	EFO	4	EFO	developmental stage	whole plant fruit ripening complete stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007038	"The stage at which fruit ripening is complete." []	3199492	\N	\N	EFO	5	EFO	process	whole plant fruit ripening complete stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007038	"The stage at which fruit ripening is complete." []	4404667	\N	\N	EFO	6	EFO	experimental factor	whole plant fruit ripening complete stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007041	\N	\N	"An inflorescence detectable phase during which an inflorescence emerges from sheathing leaves or bracts. Includes emergence of a Zea mays inflorescence from a flag leaf sheath, following booting. In US cornbelt maize (including B73) the tassel fully emerges about 2-3 days prior to silk emergence from husk leaves. At this time the ear and husk may still be enclosed within its leaf sheath depending on the variety and environmental conditions." []	PO:0007041	"An inflorescence detectable phase during which an inflorescence emerges from sheathing leaves or bracts. Includes emergence of a Zea mays inflorescence from a flag leaf sheath, following booting. In US cornbelt maize (including B73) the tassel fully emerges about 2-3 days prior to silk emergence from husk leaves. At this time the ear and husk may still be enclosed within its leaf sheath depending on the variety and environmental conditions." []	79365	\N	\N	EFO	0	EFO	inflorescence emergence stage	inflorescence emergence stage
PO:0007047	PO:0007041	\N	"A reproductive growth stage during which an inflorescence is detectable.\\n\\nThis includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families." []	PO:0007041	"An inflorescence detectable phase during which an inflorescence emerges from sheathing leaves or bracts. Includes emergence of a Zea mays inflorescence from a flag leaf sheath, following booting. In US cornbelt maize (including B73) the tassel fully emerges about 2-3 days prior to silk emergence from husk leaves. At this time the ear and husk may still be enclosed within its leaf sheath depending on the variety and environmental conditions." []	224500	\N	\N	EFO	1	EFO	3 inflorescence detectable stage	inflorescence emergence stage
PO:0028002	PO:0007041	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007041	"An inflorescence detectable phase during which an inflorescence emerges from sheathing leaves or bracts. Includes emergence of a Zea mays inflorescence from a flag leaf sheath, following booting. In US cornbelt maize (including B73) the tassel fully emerges about 2-3 days prior to silk emergence from husk leaves. At this time the ear and husk may still be enclosed within its leaf sheath depending on the variety and environmental conditions." []	224501	\N	\N	EFO	1	EFO	sporophyte development stage	inflorescence emergence stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007041	"An inflorescence detectable phase during which an inflorescence emerges from sheathing leaves or bracts. Includes emergence of a Zea mays inflorescence from a flag leaf sheath, following booting. In US cornbelt maize (including B73) the tassel fully emerges about 2-3 days prior to silk emergence from husk leaves. At this time the ear and husk may still be enclosed within its leaf sheath depending on the variety and environmental conditions." []	581391	\N	\N	EFO	2	EFO	plant structure development stage	inflorescence emergence stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007041	"An inflorescence detectable phase during which an inflorescence emerges from sheathing leaves or bracts. Includes emergence of a Zea mays inflorescence from a flag leaf sheath, following booting. In US cornbelt maize (including B73) the tassel fully emerges about 2-3 days prior to silk emergence from husk leaves. At this time the ear and husk may still be enclosed within its leaf sheath depending on the variety and environmental conditions." []	1165428	\N	\N	EFO	3	EFO	developmental stage	inflorescence emergence stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007041	"An inflorescence detectable phase during which an inflorescence emerges from sheathing leaves or bracts. Includes emergence of a Zea mays inflorescence from a flag leaf sheath, following booting. In US cornbelt maize (including B73) the tassel fully emerges about 2-3 days prior to silk emergence from husk leaves. At this time the ear and husk may still be enclosed within its leaf sheath depending on the variety and environmental conditions." []	2049419	\N	\N	EFO	4	EFO	process	inflorescence emergence stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007041	"An inflorescence detectable phase during which an inflorescence emerges from sheathing leaves or bracts. Includes emergence of a Zea mays inflorescence from a flag leaf sheath, following booting. In US cornbelt maize (including B73) the tassel fully emerges about 2-3 days prior to silk emergence from husk leaves. At this time the ear and husk may still be enclosed within its leaf sheath depending on the variety and environmental conditions." []	3199493	\N	\N	EFO	5	EFO	experimental factor	inflorescence emergence stage
PO:0007042	\N	\N	"A whole plant fruit development stage (PO:0025500) that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503) and ends with the onset of a whole plant fruit ripening stage (PO:0007010). [ Poc:curators ] " []	PO:0007042	"A whole plant fruit development stage (PO:0025500) that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503) and ends with the onset of a whole plant fruit ripening stage (PO:0007010). [ Poc:curators ] " []	79366	\N	\N	EFO	0	EFO	whole plant fruit formation stage	whole plant fruit formation stage
PO:0025500	\N	\N	"A sporophyte reproductive stage that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503), and ends with the earliest of the following: (1) the whole plant begins a sporophyte senescent stage (PO:0007017), (2) the whole plant begins a sporophyte dormant stage (PO:0007132), or (3) all fruits on the whole plant are finished ripening." [POC:curators]	PO:0007042	"A whole plant fruit development stage (PO:0025500) that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503) and ends with the onset of a whole plant fruit ripening stage (PO:0007010). [ Poc:curators ] " []	195812	\N	Angiosperm,Maize	EFO	0	EFO	whole plant fruit development stage	whole plant fruit formation stage
PO:0009012	PO:0007042	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007042	"A whole plant fruit development stage (PO:0025500) that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503) and ends with the onset of a whole plant fruit ripening stage (PO:0007010). [ Poc:curators ] " []	224502	\N	\N	EFO	1	EFO	plant structure development stage	whole plant fruit formation stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007042	"A whole plant fruit development stage (PO:0025500) that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503) and ends with the onset of a whole plant fruit ripening stage (PO:0007010). [ Poc:curators ] " []	581392	\N	\N	EFO	2	EFO	developmental stage	whole plant fruit formation stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007042	"A whole plant fruit development stage (PO:0025500) that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503) and ends with the onset of a whole plant fruit ripening stage (PO:0007010). [ Poc:curators ] " []	1165429	\N	\N	EFO	3	EFO	process	whole plant fruit formation stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007042	"A whole plant fruit development stage (PO:0025500) that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503) and ends with the onset of a whole plant fruit ripening stage (PO:0007010). [ Poc:curators ] " []	2049420	\N	\N	EFO	4	EFO	experimental factor	whole plant fruit formation stage
PO:0007043	\N	\N	"This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed (PO:0009010) is underneath a growth medium. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed. A seedling development stage (PO:0007131) during which the hypocotyl (PO:0020100) emerges from the seed coat (PO:0009088)." []	PO:0007043	"This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed (PO:0009010) is underneath a growth medium. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed. A seedling development stage (PO:0007131) during which the hypocotyl (PO:0020100) emerges from the seed coat (PO:0009088)." []	79367	\N	\N	EFO	0	EFO	hypocotyl emergence stage	hypocotyl emergence stage
PO:0007131	PO:0007043	\N	"The embryonic product of the germination of a seed; the young shoot and root axis." []	PO:0007043	"This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed (PO:0009010) is underneath a growth medium. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed. A seedling development stage (PO:0007131) during which the hypocotyl (PO:0020100) emerges from the seed coat (PO:0009088)." []	224503	\N	\N	EFO	1	EFO	seedling development stage	hypocotyl emergence stage
PO:0007131	PO:0007043	\N	"The embryonic product of the germination of a seed; the young shoot and root axis." []	PO:0007043	"This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed (PO:0009010) is underneath a growth medium. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed. A seedling development stage (PO:0007131) during which the hypocotyl (PO:0020100) emerges from the seed coat (PO:0009088)." []	224504	\N	\N	EFO	1	EFO	seedling development stage	hypocotyl emergence stage
PO:0028002	PO:0007131	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007043	"This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed (PO:0009010) is underneath a growth medium. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed. A seedling development stage (PO:0007131) during which the hypocotyl (PO:0020100) emerges from the seed coat (PO:0009088)." []	581393	\N	\N	EFO	2	EFO	sporophyte development stage	hypocotyl emergence stage
PO:0007134	PO:0007131	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007043	"This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed (PO:0009010) is underneath a growth medium. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed. A seedling development stage (PO:0007131) during which the hypocotyl (PO:0020100) emerges from the seed coat (PO:0009088)." []	581394	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	hypocotyl emergence stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007043	"This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed (PO:0009010) is underneath a growth medium. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed. A seedling development stage (PO:0007131) during which the hypocotyl (PO:0020100) emerges from the seed coat (PO:0009088)." []	1165430	\N	\N	EFO	3	EFO	plant structure development stage	hypocotyl emergence stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007043	"This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed (PO:0009010) is underneath a growth medium. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed. A seedling development stage (PO:0007131) during which the hypocotyl (PO:0020100) emerges from the seed coat (PO:0009088)." []	1165431	\N	\N	EFO	3	EFO	sporophyte development stage	hypocotyl emergence stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007043	"This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed (PO:0009010) is underneath a growth medium. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed. A seedling development stage (PO:0007131) during which the hypocotyl (PO:0020100) emerges from the seed coat (PO:0009088)." []	2049421	\N	\N	EFO	4	EFO	developmental stage	hypocotyl emergence stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007043	"This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed (PO:0009010) is underneath a growth medium. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed. A seedling development stage (PO:0007131) during which the hypocotyl (PO:0020100) emerges from the seed coat (PO:0009088)." []	3199494	\N	\N	EFO	5	EFO	process	hypocotyl emergence stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007043	"This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed (PO:0009010) is underneath a growth medium. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed. A seedling development stage (PO:0007131) during which the hypocotyl (PO:0020100) emerges from the seed coat (PO:0009088)." []	4404668	\N	\N	EFO	6	EFO	experimental factor	hypocotyl emergence stage
PO:0007045	\N	\N	"A sporophyte vegetative stage during which the coleoptile emerges from the seed coat." []	PO:0007045	"A sporophyte vegetative stage during which the coleoptile emerges from the seed coat." []	79368	\N	\N	EFO	0	EFO	coleoptile emergence stage	coleoptile emergence stage
PO:0007057	PO:0007045	\N	"The resumption of growth by the embryo in a seed." []	PO:0007045	"A sporophyte vegetative stage during which the coleoptile emerges from the seed coat." []	224505	\N	\N	EFO	1	EFO	0 seed germination stage	coleoptile emergence stage
PO:0007057	PO:0007045	\N	"The resumption of growth by the embryo in a seed." []	PO:0007045	"A sporophyte vegetative stage during which the coleoptile emerges from the seed coat." []	224506	\N	\N	EFO	1	EFO	0 seed germination stage	coleoptile emergence stage
PO:0007134	PO:0007045	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007045	"A sporophyte vegetative stage during which the coleoptile emerges from the seed coat." []	224507	\N	\N	EFO	1	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	coleoptile emergence stage
PO:0028002	PO:0007057	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007045	"A sporophyte vegetative stage during which the coleoptile emerges from the seed coat." []	581395	\N	\N	EFO	2	EFO	sporophyte development stage	coleoptile emergence stage
PO:0007134	PO:0007057	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007045	"A sporophyte vegetative stage during which the coleoptile emerges from the seed coat." []	581396	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	coleoptile emergence stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007045	"A sporophyte vegetative stage during which the coleoptile emerges from the seed coat." []	1165433	\N	\N	EFO	3	EFO	sporophyte development stage	coleoptile emergence stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007045	"A sporophyte vegetative stage during which the coleoptile emerges from the seed coat." []	1165432	\N	\N	EFO	3	EFO	plant structure development stage	coleoptile emergence stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007045	"A sporophyte vegetative stage during which the coleoptile emerges from the seed coat." []	2049422	\N	\N	EFO	4	EFO	developmental stage	coleoptile emergence stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007045	"A sporophyte vegetative stage during which the coleoptile emerges from the seed coat." []	3199495	\N	\N	EFO	5	EFO	process	coleoptile emergence stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007045	"A sporophyte vegetative stage during which the coleoptile emerges from the seed coat." []	4404669	\N	\N	EFO	6	EFO	experimental factor	coleoptile emergence stage
PO:0007047	\N	\N	"A reproductive growth stage during which an inflorescence is detectable.\\n\\nThis includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families." []	PO:0007047	"A reproductive growth stage during which an inflorescence is detectable.\\n\\nThis includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families." []	79369	\N	\N	EFO	0	EFO	3 inflorescence detectable stage	3 inflorescence detectable stage
PO:0007130	\N	\N	"A sporophyte development stage that occurs during the interval between the initiation of a sporangium and the onset of senescence." [POC:curators]	PO:0007047	"A reproductive growth stage during which an inflorescence is detectable.\\n\\nThis includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families." []	195813	\N	\N	EFO	0	EFO	sporophyte reproductive stage	3 inflorescence detectable stage
PO:0028002	PO:0007047	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007047	"A reproductive growth stage during which an inflorescence is detectable.\\n\\nThis includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families." []	224508	\N	\N	EFO	1	EFO	sporophyte development stage	3 inflorescence detectable stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007047	"A reproductive growth stage during which an inflorescence is detectable.\\n\\nThis includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families." []	581398	\N	\N	EFO	2	EFO	plant structure development stage	3 inflorescence detectable stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007047	"A reproductive growth stage during which an inflorescence is detectable.\\n\\nThis includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families." []	1165434	\N	\N	EFO	3	EFO	developmental stage	3 inflorescence detectable stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007047	"A reproductive growth stage during which an inflorescence is detectable.\\n\\nThis includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families." []	2049423	\N	\N	EFO	4	EFO	process	3 inflorescence detectable stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007047	"A reproductive growth stage during which an inflorescence is detectable.\\n\\nThis includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families." []	3199496	\N	\N	EFO	5	EFO	experimental factor	3 inflorescence detectable stage
PO:0007049	\N	\N	"A seedling development stage (PO:0007131) during which the cotyledon (PO:0020030) emerges from the seed coat (PO:0009088). This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed is underneath a growth medium, especially in plants with hypogeal germination. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed." []	PO:0007049	"A seedling development stage (PO:0007131) during which the cotyledon (PO:0020030) emerges from the seed coat (PO:0009088). This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed is underneath a growth medium, especially in plants with hypogeal germination. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed." []	79370	\N	\N	EFO	0	EFO	cotyledon emergence stage	cotyledon emergence stage
PO:0007131	PO:0007049	\N	"The embryonic product of the germination of a seed; the young shoot and root axis." []	PO:0007049	"A seedling development stage (PO:0007131) during which the cotyledon (PO:0020030) emerges from the seed coat (PO:0009088). This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed is underneath a growth medium, especially in plants with hypogeal germination. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed." []	224509	\N	\N	EFO	1	EFO	seedling development stage	cotyledon emergence stage
PO:0007131	PO:0007049	\N	"The embryonic product of the germination of a seed; the young shoot and root axis." []	PO:0007049	"A seedling development stage (PO:0007131) during which the cotyledon (PO:0020030) emerges from the seed coat (PO:0009088). This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed is underneath a growth medium, especially in plants with hypogeal germination. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed." []	224510	\N	\N	EFO	1	EFO	seedling development stage	cotyledon emergence stage
PO:0028002	PO:0007131	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007049	"A seedling development stage (PO:0007131) during which the cotyledon (PO:0020030) emerges from the seed coat (PO:0009088). This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed is underneath a growth medium, especially in plants with hypogeal germination. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed." []	581399	\N	\N	EFO	2	EFO	sporophyte development stage	cotyledon emergence stage
PO:0007134	PO:0007131	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007049	"A seedling development stage (PO:0007131) during which the cotyledon (PO:0020030) emerges from the seed coat (PO:0009088). This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed is underneath a growth medium, especially in plants with hypogeal germination. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed." []	581400	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon emergence stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007049	"A seedling development stage (PO:0007131) during which the cotyledon (PO:0020030) emerges from the seed coat (PO:0009088). This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed is underneath a growth medium, especially in plants with hypogeal germination. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed." []	1165435	\N	\N	EFO	3	EFO	plant structure development stage	cotyledon emergence stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007049	"A seedling development stage (PO:0007131) during which the cotyledon (PO:0020030) emerges from the seed coat (PO:0009088). This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed is underneath a growth medium, especially in plants with hypogeal germination. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed." []	1165436	\N	\N	EFO	3	EFO	sporophyte development stage	cotyledon emergence stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007049	"A seedling development stage (PO:0007131) during which the cotyledon (PO:0020030) emerges from the seed coat (PO:0009088). This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed is underneath a growth medium, especially in plants with hypogeal germination. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed." []	2049424	\N	\N	EFO	4	EFO	developmental stage	cotyledon emergence stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007049	"A seedling development stage (PO:0007131) during which the cotyledon (PO:0020030) emerges from the seed coat (PO:0009088). This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed is underneath a growth medium, especially in plants with hypogeal germination. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed." []	3199497	\N	\N	EFO	5	EFO	process	cotyledon emergence stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007049	"A seedling development stage (PO:0007131) during which the cotyledon (PO:0020030) emerges from the seed coat (PO:0009088). This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed is underneath a growth medium, especially in plants with hypogeal germination. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed." []	4404670	\N	\N	EFO	6	EFO	experimental factor	cotyledon emergence stage
PO:0007053	\N	\N	"50% of flowers to be produced have opened" []	PO:0007053	"50% of flowers to be produced have opened" []	79371	\N	\N	EFO	0	EFO	FL.02 1/2 of flowers open stage	FL.02 1/2 of flowers open stage
PO:0007016	PO:0007053	\N	"The stage at which any flower(s) on the plant are open." []	PO:0007053	"50% of flowers to be produced have opened" []	224511	\N	\N	EFO	1	EFO	whole plant flowering stage	FL.02 1/2 of flowers open stage
PO:0007016	PO:0007053	\N	"The stage at which any flower(s) on the plant are open." []	PO:0007053	"50% of flowers to be produced have opened" []	224512	\N	\N	EFO	1	EFO	whole plant flowering stage	FL.02 1/2 of flowers open stage
PO:0028002	PO:0007016	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007053	"50% of flowers to be produced have opened" []	581401	\N	\N	EFO	2	EFO	sporophyte development stage	FL.02 1/2 of flowers open stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007053	"50% of flowers to be produced have opened" []	1165437	\N	\N	EFO	3	EFO	plant structure development stage	FL.02 1/2 of flowers open stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007053	"50% of flowers to be produced have opened" []	2049425	\N	\N	EFO	4	EFO	developmental stage	FL.02 1/2 of flowers open stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007053	"50% of flowers to be produced have opened" []	3199498	\N	\N	EFO	5	EFO	process	FL.02 1/2 of flowers open stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007053	"50% of flowers to be produced have opened" []	4404671	\N	\N	EFO	6	EFO	experimental factor	FL.02 1/2 of flowers open stage
PO:0007057	\N	\N	"The resumption of growth by the embryo in a seed." []	PO:0007057	"The resumption of growth by the embryo in a seed." []	79372	\N	\N	EFO	0	EFO	0 seed germination stage	0 seed germination stage
PO:0007134	PO:0007057	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007057	"The resumption of growth by the embryo in a seed." []	224513	\N	\N	EFO	1	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	0 seed germination stage
PO:0028002	PO:0007057	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007057	"The resumption of growth by the embryo in a seed." []	224514	\N	\N	EFO	1	EFO	sporophyte development stage	0 seed germination stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007057	"The resumption of growth by the embryo in a seed." []	581402	\N	\N	EFO	2	EFO	sporophyte development stage	0 seed germination stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007057	"The resumption of growth by the embryo in a seed." []	581403	\N	\N	EFO	2	EFO	plant structure development stage	0 seed germination stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007057	"The resumption of growth by the embryo in a seed." []	1165438	\N	\N	EFO	3	EFO	developmental stage	0 seed germination stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007057	"The resumption of growth by the embryo in a seed." []	2049426	\N	\N	EFO	4	EFO	process	0 seed germination stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007057	"The resumption of growth by the embryo in a seed." []	3199499	\N	\N	EFO	5	EFO	experimental factor	0 seed germination stage
PO:0007063	\N	\N	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	PO:0007063	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	79373	\N	\N	EFO	0	EFO	LP.07 seven leaves visible stage	LP.07 seven leaves visible stage
PO:0007133	PO:0007063	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007063	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	224515	\N	\N	EFO	1	EFO	leaf production stage	LP.07 seven leaves visible stage
PO:0007133	PO:0007063	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007063	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	224516	\N	\N	EFO	1	EFO	leaf production stage	LP.07 seven leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007063	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	581404	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.07 seven leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007063	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	581405	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.07 seven leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007063	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	1165439	\N	\N	EFO	3	EFO	sporophyte development stage	LP.07 seven leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007063	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	1165440	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.07 seven leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007063	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	2049427	\N	\N	EFO	4	EFO	plant structure development stage	LP.07 seven leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007063	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	2049428	\N	\N	EFO	4	EFO	sporophyte development stage	LP.07 seven leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007063	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	3199500	\N	\N	EFO	5	EFO	developmental stage	LP.07 seven leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007063	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	4404672	\N	\N	EFO	6	EFO	process	LP.07 seven leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007063	"The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground." []	5420194	\N	\N	EFO	7	EFO	experimental factor	LP.07 seven leaves visible stage
PO:0007064	\N	\N	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	PO:0007064	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	79374	\N	\N	EFO	0	EFO	LP.12 twelve leaves visible stage	LP.12 twelve leaves visible stage
PO:0007133	PO:0007064	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007064	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	224517	\N	\N	EFO	1	EFO	leaf production stage	LP.12 twelve leaves visible stage
PO:0007133	PO:0007064	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007064	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	224518	\N	\N	EFO	1	EFO	leaf production stage	LP.12 twelve leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007064	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	581406	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.12 twelve leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007064	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	581407	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.12 twelve leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007064	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	1165441	\N	\N	EFO	3	EFO	sporophyte development stage	LP.12 twelve leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007064	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	1165442	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.12 twelve leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007064	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	2049429	\N	\N	EFO	4	EFO	plant structure development stage	LP.12 twelve leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007064	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	2049430	\N	\N	EFO	4	EFO	sporophyte development stage	LP.12 twelve leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007064	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	3199501	\N	\N	EFO	5	EFO	developmental stage	LP.12 twelve leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007064	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	4404673	\N	\N	EFO	6	EFO	process	LP.12 twelve leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007064	"The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground." []	5420195	\N	\N	EFO	7	EFO	experimental factor	LP.12 twelve leaves visible stage
PO:0007065	\N	\N	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	PO:0007065	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	79375	\N	\N	EFO	0	EFO	LP.05 five leaves visible stage	LP.05 five leaves visible stage
PO:0007133	PO:0007065	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007065	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	224519	\N	\N	EFO	1	EFO	leaf production stage	LP.05 five leaves visible stage
PO:0007133	PO:0007065	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007065	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	224520	\N	\N	EFO	1	EFO	leaf production stage	LP.05 five leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007065	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	581408	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.05 five leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007065	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	581409	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.05 five leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007065	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	1165443	\N	\N	EFO	3	EFO	sporophyte development stage	LP.05 five leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007065	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	1165444	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.05 five leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007065	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	2049431	\N	\N	EFO	4	EFO	plant structure development stage	LP.05 five leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007065	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	2049432	\N	\N	EFO	4	EFO	sporophyte development stage	LP.05 five leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007065	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	3199502	\N	\N	EFO	5	EFO	developmental stage	LP.05 five leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007065	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	4404674	\N	\N	EFO	6	EFO	process	LP.05 five leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007065	"The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground." []	5420196	\N	\N	EFO	7	EFO	experimental factor	LP.05 five leaves visible stage
PO:0007067	\N	\N	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	PO:0007067	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	79376	\N	\N	EFO	0	EFO	LP.17 seventeen leaves visible stage	LP.17 seventeen leaves visible stage
PO:0007133	PO:0007067	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007067	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	224521	\N	\N	EFO	1	EFO	leaf production stage	LP.17 seventeen leaves visible stage
PO:0007133	PO:0007067	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007067	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	224522	\N	\N	EFO	1	EFO	leaf production stage	LP.17 seventeen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007067	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	581410	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.17 seventeen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007067	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	581411	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.17 seventeen leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007067	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	1165445	\N	\N	EFO	3	EFO	sporophyte development stage	LP.17 seventeen leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007067	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	1165446	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.17 seventeen leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007067	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	2049433	\N	\N	EFO	4	EFO	plant structure development stage	LP.17 seventeen leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007067	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	2049434	\N	\N	EFO	4	EFO	sporophyte development stage	LP.17 seventeen leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007067	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	3199503	\N	\N	EFO	5	EFO	developmental stage	LP.17 seventeen leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007067	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	4404675	\N	\N	EFO	6	EFO	process	LP.17 seventeen leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007067	"The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground." []	5420197	\N	\N	EFO	7	EFO	experimental factor	LP.17 seventeen leaves visible stage
PO:0007068	\N	\N	"Rosette has reached approximately 50% of its final diameter." []	PO:0007068	"Rosette has reached approximately 50% of its final diameter." []	79377	\N	\N	EFO	0	EFO	mid rosette growth stage	mid rosette growth stage
PO:0007113	PO:0007068	\N	"Stages of growth based on expansion of the rosette in Arabidopsis." []	PO:0007068	"Rosette has reached approximately 50% of its final diameter." []	224523	\N	\N	EFO	1	EFO	rosette growth stage	mid rosette growth stage
PO:0007113	PO:0007068	\N	"Stages of growth based on expansion of the rosette in Arabidopsis." []	PO:0007068	"Rosette has reached approximately 50% of its final diameter." []	224524	\N	\N	EFO	1	EFO	rosette growth stage	mid rosette growth stage
PO:0007112	PO:0007113	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007068	"Rosette has reached approximately 50% of its final diameter." []	581412	\N	\N	EFO	2	EFO	1 main shoot growth stage	mid rosette growth stage
PO:0007112	PO:0007113	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007068	"Rosette has reached approximately 50% of its final diameter." []	581413	\N	\N	EFO	2	EFO	1 main shoot growth stage	mid rosette growth stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007068	"Rosette has reached approximately 50% of its final diameter." []	1165447	\N	\N	EFO	3	EFO	sporophyte development stage	mid rosette growth stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007068	"Rosette has reached approximately 50% of its final diameter." []	1165448	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	mid rosette growth stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007068	"Rosette has reached approximately 50% of its final diameter." []	2049435	\N	\N	EFO	4	EFO	plant structure development stage	mid rosette growth stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007068	"Rosette has reached approximately 50% of its final diameter." []	2049436	\N	\N	EFO	4	EFO	sporophyte development stage	mid rosette growth stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007068	"Rosette has reached approximately 50% of its final diameter." []	3199504	\N	\N	EFO	5	EFO	developmental stage	mid rosette growth stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007068	"Rosette has reached approximately 50% of its final diameter." []	4404676	\N	\N	EFO	6	EFO	process	mid rosette growth stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007068	"Rosette has reached approximately 50% of its final diameter." []	5420198	\N	\N	EFO	7	EFO	experimental factor	mid rosette growth stage
PO:0007072	\N	\N	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	PO:0007072	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	79378	\N	\N	EFO	0	EFO	LP.18 eighteen leaves visible stage	LP.18 eighteen leaves visible stage
PO:0007133	PO:0007072	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007072	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	224525	\N	\N	EFO	1	EFO	leaf production stage	LP.18 eighteen leaves visible stage
PO:0007133	PO:0007072	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007072	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	224526	\N	\N	EFO	1	EFO	leaf production stage	LP.18 eighteen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007072	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	581414	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.18 eighteen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007072	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	581415	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.18 eighteen leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007072	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	1165449	\N	\N	EFO	3	EFO	sporophyte development stage	LP.18 eighteen leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007072	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	1165450	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.18 eighteen leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007072	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	2049437	\N	\N	EFO	4	EFO	plant structure development stage	LP.18 eighteen leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007072	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	2049438	\N	\N	EFO	4	EFO	sporophyte development stage	LP.18 eighteen leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007072	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	3199505	\N	\N	EFO	5	EFO	developmental stage	LP.18 eighteen leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007072	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	4404677	\N	\N	EFO	6	EFO	process	LP.18 eighteen leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007072	"The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground." []	5420199	\N	\N	EFO	7	EFO	experimental factor	LP.18 eighteen leaves visible stage
PO:0007073	\N	\N	"The stage at which the axillary shoots are forming." []	PO:0007073	"The stage at which the axillary shoots are forming." []	79379	\N	\N	EFO	0	EFO	2 formation of axillary shoot stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	2 formation of axillary shoot stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007073	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007073	"The stage at which the axillary shoots are forming." []	224527	\N	\N	EFO	1	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	2 formation of axillary shoot stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007073	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007073	"The stage at which the axillary shoots are forming." []	224528	\N	\N	EFO	1	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	2 formation of axillary shoot stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007073	"The stage at which the axillary shoots are forming." []	581416	\N	\N	EFO	2	EFO	sporophyte development stage	2 formation of axillary shoot stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007073	"The stage at which the axillary shoots are forming." []	581417	\N	\N	EFO	2	EFO	sporophyte development stage	2 formation of axillary shoot stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007073	"The stage at which the axillary shoots are forming." []	1165451	\N	\N	EFO	3	EFO	plant structure development stage	2 formation of axillary shoot stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007073	"The stage at which the axillary shoots are forming." []	2049439	\N	\N	EFO	4	EFO	developmental stage	2 formation of axillary shoot stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007073	"The stage at which the axillary shoots are forming." []	3199506	\N	\N	EFO	5	EFO	process	2 formation of axillary shoot stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007073	"The stage at which the axillary shoots are forming." []	4404678	\N	\N	EFO	6	EFO	experimental factor	2 formation of axillary shoot stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007076	\N	\N	"Rosette has reached approximately 70% of its final diameter." []	PO:0007076	"Rosette has reached approximately 70% of its final diameter." []	79380	\N	\N	EFO	0	EFO	late rosette growth stage	late rosette growth stage
PO:0007113	PO:0007076	\N	"Stages of growth based on expansion of the rosette in Arabidopsis." []	PO:0007076	"Rosette has reached approximately 70% of its final diameter." []	224529	\N	\N	EFO	1	EFO	rosette growth stage	late rosette growth stage
PO:0007113	PO:0007076	\N	"Stages of growth based on expansion of the rosette in Arabidopsis." []	PO:0007076	"Rosette has reached approximately 70% of its final diameter." []	224530	\N	\N	EFO	1	EFO	rosette growth stage	late rosette growth stage
PO:0007112	PO:0007113	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007076	"Rosette has reached approximately 70% of its final diameter." []	581418	\N	\N	EFO	2	EFO	1 main shoot growth stage	late rosette growth stage
PO:0007112	PO:0007113	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007076	"Rosette has reached approximately 70% of its final diameter." []	581419	\N	\N	EFO	2	EFO	1 main shoot growth stage	late rosette growth stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007076	"Rosette has reached approximately 70% of its final diameter." []	1165452	\N	\N	EFO	3	EFO	sporophyte development stage	late rosette growth stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007076	"Rosette has reached approximately 70% of its final diameter." []	1165453	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	late rosette growth stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007076	"Rosette has reached approximately 70% of its final diameter." []	2049440	\N	\N	EFO	4	EFO	plant structure development stage	late rosette growth stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007076	"Rosette has reached approximately 70% of its final diameter." []	2049441	\N	\N	EFO	4	EFO	sporophyte development stage	late rosette growth stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007076	"Rosette has reached approximately 70% of its final diameter." []	3199507	\N	\N	EFO	5	EFO	developmental stage	late rosette growth stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007076	"Rosette has reached approximately 70% of its final diameter." []	4404679	\N	\N	EFO	6	EFO	process	late rosette growth stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007076	"Rosette has reached approximately 70% of its final diameter." []	5420200	\N	\N	EFO	7	EFO	experimental factor	late rosette growth stage
PO:0007078	\N	\N	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	PO:0007078	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	79381	\N	\N	EFO	0	EFO	rosette growth complete stage	rosette growth complete stage
PO:0007113	PO:0007078	\N	"Stages of growth based on expansion of the rosette in Arabidopsis." []	PO:0007078	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	224531	\N	\N	EFO	1	EFO	rosette growth stage	rosette growth complete stage
PO:0007113	PO:0007078	\N	"Stages of growth based on expansion of the rosette in Arabidopsis." []	PO:0007078	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	224532	\N	\N	EFO	1	EFO	rosette growth stage	rosette growth complete stage
PO:0007112	PO:0007113	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007078	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	581420	\N	\N	EFO	2	EFO	1 main shoot growth stage	rosette growth complete stage
PO:0007112	PO:0007113	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007078	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	581421	\N	\N	EFO	2	EFO	1 main shoot growth stage	rosette growth complete stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007078	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	1165454	\N	\N	EFO	3	EFO	sporophyte development stage	rosette growth complete stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007078	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	1165455	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	rosette growth complete stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007078	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	2049442	\N	\N	EFO	4	EFO	plant structure development stage	rosette growth complete stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007078	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	2049443	\N	\N	EFO	4	EFO	sporophyte development stage	rosette growth complete stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007078	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	3199508	\N	\N	EFO	5	EFO	developmental stage	rosette growth complete stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007078	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	4404680	\N	\N	EFO	6	EFO	process	rosette growth complete stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007078	"Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased." []	5420201	\N	\N	EFO	7	EFO	experimental factor	rosette growth complete stage
PO:0007079	\N	\N	"The stage at which the internodes begin to elongate." []	PO:0007079	"The stage at which the internodes begin to elongate." []	79382	\N	\N	EFO	0	EFO	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007089	PO:0007079	\N	"The stage at which the internodes elongate." []	PO:0007079	"The stage at which the internodes begin to elongate." []	224533	\N	\N	EFO	1	EFO	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007089	PO:0007079	\N	"The stage at which the internodes elongate." []	PO:0007079	"The stage at which the internodes begin to elongate." []	224534	\N	\N	EFO	1	EFO	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007089	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007079	"The stage at which the internodes begin to elongate." []	581422	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007112	PO:0007089	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007079	"The stage at which the internodes begin to elongate." []	581423	\N	\N	EFO	2	EFO	1 main shoot growth stage	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007079	"The stage at which the internodes begin to elongate." []	1165456	\N	\N	EFO	3	EFO	sporophyte development stage	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007079	"The stage at which the internodes begin to elongate." []	1165457	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007079	"The stage at which the internodes begin to elongate." []	2049444	\N	\N	EFO	4	EFO	plant structure development stage	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007079	"The stage at which the internodes begin to elongate." []	2049445	\N	\N	EFO	4	EFO	sporophyte development stage	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007079	"The stage at which the internodes begin to elongate." []	3199509	\N	\N	EFO	5	EFO	developmental stage	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007079	"The stage at which the internodes begin to elongate." []	4404681	\N	\N	EFO	6	EFO	process	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007079	"The stage at which the internodes begin to elongate." []	5420202	\N	\N	EFO	7	EFO	experimental factor	SE.00 stem elongation begins stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007080	\N	\N	"The stage at which main shoot and axillary shoots at three nodes are visible." []	PO:0007080	"The stage at which main shoot and axillary shoots at three nodes are visible." []	79383	\N	\N	EFO	0	EFO	2.03 main shoot and axillary shoots visible at three nodes stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	2.03 main shoot and axillary shoots visible at three nodes stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007073	PO:0007080	\N	"The stage at which the axillary shoots are forming." []	PO:0007080	"The stage at which main shoot and axillary shoots at three nodes are visible." []	224535	\N	\N	EFO	1	EFO	2 formation of axillary shoot stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	2.03 main shoot and axillary shoots visible at three nodes stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007073	PO:0007080	\N	"The stage at which the axillary shoots are forming." []	PO:0007080	"The stage at which main shoot and axillary shoots at three nodes are visible." []	224536	\N	\N	EFO	1	EFO	2 formation of axillary shoot stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	2.03 main shoot and axillary shoots visible at three nodes stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007073	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007080	"The stage at which main shoot and axillary shoots at three nodes are visible." []	581424	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	2.03 main shoot and axillary shoots visible at three nodes stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007073	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007080	"The stage at which main shoot and axillary shoots at three nodes are visible." []	581425	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	2.03 main shoot and axillary shoots visible at three nodes stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007080	"The stage at which main shoot and axillary shoots at three nodes are visible." []	1165458	\N	\N	EFO	3	EFO	sporophyte development stage	2.03 main shoot and axillary shoots visible at three nodes stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007080	"The stage at which main shoot and axillary shoots at three nodes are visible." []	1165459	\N	\N	EFO	3	EFO	sporophyte development stage	2.03 main shoot and axillary shoots visible at three nodes stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007080	"The stage at which main shoot and axillary shoots at three nodes are visible." []	2049446	\N	\N	EFO	4	EFO	plant structure development stage	2.03 main shoot and axillary shoots visible at three nodes stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007080	"The stage at which main shoot and axillary shoots at three nodes are visible." []	3199510	\N	\N	EFO	5	EFO	developmental stage	2.03 main shoot and axillary shoots visible at three nodes stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007080	"The stage at which main shoot and axillary shoots at three nodes are visible." []	4404682	\N	\N	EFO	6	EFO	process	2.03 main shoot and axillary shoots visible at three nodes stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007080	"The stage at which main shoot and axillary shoots at three nodes are visible." []	5420203	\N	\N	EFO	7	EFO	experimental factor	2.03 main shoot and axillary shoots visible at three nodes stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007081	\N	\N	"Rosette has reached approximately 20% of its final diameter." []	PO:0007081	"Rosette has reached approximately 20% of its final diameter." []	79384	\N	\N	EFO	0	EFO	early rosette growth stage	early rosette growth stage
PO:0007113	PO:0007081	\N	"Stages of growth based on expansion of the rosette in Arabidopsis." []	PO:0007081	"Rosette has reached approximately 20% of its final diameter." []	224537	\N	\N	EFO	1	EFO	rosette growth stage	early rosette growth stage
PO:0007113	PO:0007081	\N	"Stages of growth based on expansion of the rosette in Arabidopsis." []	PO:0007081	"Rosette has reached approximately 20% of its final diameter." []	224538	\N	\N	EFO	1	EFO	rosette growth stage	early rosette growth stage
PO:0007112	PO:0007113	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007081	"Rosette has reached approximately 20% of its final diameter." []	581426	\N	\N	EFO	2	EFO	1 main shoot growth stage	early rosette growth stage
PO:0007112	PO:0007113	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007081	"Rosette has reached approximately 20% of its final diameter." []	581427	\N	\N	EFO	2	EFO	1 main shoot growth stage	early rosette growth stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007081	"Rosette has reached approximately 20% of its final diameter." []	1165460	\N	\N	EFO	3	EFO	sporophyte development stage	early rosette growth stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007081	"Rosette has reached approximately 20% of its final diameter." []	1165461	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	early rosette growth stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007081	"Rosette has reached approximately 20% of its final diameter." []	2049447	\N	\N	EFO	4	EFO	plant structure development stage	early rosette growth stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007081	"Rosette has reached approximately 20% of its final diameter." []	2049448	\N	\N	EFO	4	EFO	sporophyte development stage	early rosette growth stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007081	"Rosette has reached approximately 20% of its final diameter." []	3199511	\N	\N	EFO	5	EFO	developmental stage	early rosette growth stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007081	"Rosette has reached approximately 20% of its final diameter." []	4404683	\N	\N	EFO	6	EFO	process	early rosette growth stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007081	"Rosette has reached approximately 20% of its final diameter." []	5420204	\N	\N	EFO	7	EFO	experimental factor	early rosette growth stage
PO:0007082	\N	\N	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	PO:0007082	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	79385	\N	\N	EFO	0	EFO	LP.20 twenty or more leaves whorls visible stage	LP.20 twenty or more leaves whorls visible stage
PO:0007133	PO:0007082	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007082	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	224539	\N	\N	EFO	1	EFO	leaf production stage	LP.20 twenty or more leaves whorls visible stage
PO:0007133	PO:0007082	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007082	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	224540	\N	\N	EFO	1	EFO	leaf production stage	LP.20 twenty or more leaves whorls visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007082	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	581428	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.20 twenty or more leaves whorls visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007082	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	581429	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.20 twenty or more leaves whorls visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007082	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	1165462	\N	\N	EFO	3	EFO	sporophyte development stage	LP.20 twenty or more leaves whorls visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007082	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	1165463	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.20 twenty or more leaves whorls visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007082	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	2049449	\N	\N	EFO	4	EFO	plant structure development stage	LP.20 twenty or more leaves whorls visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007082	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	2049450	\N	\N	EFO	4	EFO	sporophyte development stage	LP.20 twenty or more leaves whorls visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007082	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	3199512	\N	\N	EFO	5	EFO	developmental stage	LP.20 twenty or more leaves whorls visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007082	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	4404684	\N	\N	EFO	6	EFO	process	LP.20 twenty or more leaves whorls visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007082	"The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground." []	5420205	\N	\N	EFO	7	EFO	experimental factor	LP.20 twenty or more leaves whorls visible stage
PO:0007083	\N	\N	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	PO:0007083	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	79386	\N	\N	EFO	0	EFO	LP.13 thirteen leaves visible stage	LP.13 thirteen leaves visible stage
PO:0007133	PO:0007083	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007083	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	224541	\N	\N	EFO	1	EFO	leaf production stage	LP.13 thirteen leaves visible stage
PO:0007133	PO:0007083	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007083	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	224542	\N	\N	EFO	1	EFO	leaf production stage	LP.13 thirteen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007083	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	581430	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.13 thirteen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007083	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	581431	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.13 thirteen leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007083	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	1165464	\N	\N	EFO	3	EFO	sporophyte development stage	LP.13 thirteen leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007083	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	1165465	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.13 thirteen leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007083	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	2049451	\N	\N	EFO	4	EFO	plant structure development stage	LP.13 thirteen leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007083	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	2049452	\N	\N	EFO	4	EFO	sporophyte development stage	LP.13 thirteen leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007083	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	3199513	\N	\N	EFO	5	EFO	developmental stage	LP.13 thirteen leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007083	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	4404685	\N	\N	EFO	6	EFO	process	LP.13 thirteen leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007083	"The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground." []	5420206	\N	\N	EFO	7	EFO	experimental factor	LP.13 thirteen leaves visible stage
PO:0007085	\N	\N	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	PO:0007085	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	79387	\N	\N	EFO	0	EFO	LP.14 fourteen leaves visible stage	LP.14 fourteen leaves visible stage
PO:0007133	PO:0007085	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007085	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	224543	\N	\N	EFO	1	EFO	leaf production stage	LP.14 fourteen leaves visible stage
PO:0007133	PO:0007085	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007085	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	224544	\N	\N	EFO	1	EFO	leaf production stage	LP.14 fourteen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007085	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	581432	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.14 fourteen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007085	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	581433	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.14 fourteen leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007085	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	1165466	\N	\N	EFO	3	EFO	sporophyte development stage	LP.14 fourteen leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007085	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	1165467	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.14 fourteen leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007085	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	2049453	\N	\N	EFO	4	EFO	plant structure development stage	LP.14 fourteen leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007085	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	2049454	\N	\N	EFO	4	EFO	sporophyte development stage	LP.14 fourteen leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007085	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	3199514	\N	\N	EFO	5	EFO	developmental stage	LP.14 fourteen leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007085	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	4404686	\N	\N	EFO	6	EFO	process	LP.14 fourteen leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007085	"The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground." []	5420207	\N	\N	EFO	7	EFO	experimental factor	LP.14 fourteen leaves visible stage
PO:0007089	\N	\N	"The stage at which the internodes elongate." []	PO:0007089	"The stage at which the internodes elongate." []	79388	\N	\N	EFO	0	EFO	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007112	PO:0007089	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007089	"The stage at which the internodes elongate." []	224545	\N	\N	EFO	1	EFO	1 main shoot growth stage	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007089	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007089	"The stage at which the internodes elongate." []	224546	\N	\N	EFO	1	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007089	"The stage at which the internodes elongate." []	581434	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007089	"The stage at which the internodes elongate." []	581435	\N	\N	EFO	2	EFO	sporophyte development stage	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007089	"The stage at which the internodes elongate." []	1165468	\N	\N	EFO	3	EFO	sporophyte development stage	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007089	"The stage at which the internodes elongate." []	1165469	\N	\N	EFO	3	EFO	plant structure development stage	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007089	"The stage at which the internodes elongate." []	2049455	\N	\N	EFO	4	EFO	developmental stage	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007089	"The stage at which the internodes elongate." []	3199515	\N	\N	EFO	5	EFO	process	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007089	"The stage at which the internodes elongate." []	4404687	\N	\N	EFO	6	EFO	experimental factor	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007094	\N	\N	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	PO:0007094	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	79389	\N	\N	EFO	0	EFO	LP.01 one leaf visible stage	LP.01 one leaf visible stage
PO:0007133	PO:0007094	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007094	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	224547	\N	\N	EFO	1	EFO	leaf production stage	LP.01 one leaf visible stage
PO:0007133	PO:0007094	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007094	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	224548	\N	\N	EFO	1	EFO	leaf production stage	LP.01 one leaf visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007094	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	581436	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.01 one leaf visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007094	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	581437	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.01 one leaf visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007094	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	1165470	\N	\N	EFO	3	EFO	sporophyte development stage	LP.01 one leaf visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007094	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	1165471	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.01 one leaf visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007094	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	2049456	\N	\N	EFO	4	EFO	plant structure development stage	LP.01 one leaf visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007094	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	2049457	\N	\N	EFO	4	EFO	sporophyte development stage	LP.01 one leaf visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007094	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	3199516	\N	\N	EFO	5	EFO	developmental stage	LP.01 one leaf visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007094	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	4404688	\N	\N	EFO	6	EFO	process	LP.01 one leaf visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007094	"The stage at which leaves at one node, other than the cotyledonary node, are visible above ground." []	5420208	\N	\N	EFO	7	EFO	experimental factor	LP.01 one leaf visible stage
PO:0007095	\N	\N	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	PO:0007095	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	79390	\N	\N	EFO	0	EFO	LP.08 eight leaves visible stage	LP.08 eight leaves visible stage
PO:0007133	PO:0007095	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007095	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	224549	\N	\N	EFO	1	EFO	leaf production stage	LP.08 eight leaves visible stage
PO:0007133	PO:0007095	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007095	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	224550	\N	\N	EFO	1	EFO	leaf production stage	LP.08 eight leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007095	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	581438	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.08 eight leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007095	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	581439	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.08 eight leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007095	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	1165472	\N	\N	EFO	3	EFO	sporophyte development stage	LP.08 eight leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007095	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	1165473	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.08 eight leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007095	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	2049458	\N	\N	EFO	4	EFO	plant structure development stage	LP.08 eight leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007095	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	2049459	\N	\N	EFO	4	EFO	sporophyte development stage	LP.08 eight leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007095	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	3199517	\N	\N	EFO	5	EFO	developmental stage	LP.08 eight leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007095	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	4404689	\N	\N	EFO	6	EFO	process	LP.08 eight leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007095	"The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground." []	5420209	\N	\N	EFO	7	EFO	experimental factor	LP.08 eight leaves visible stage
PO:0007098	\N	\N	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	PO:0007098	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	79391	\N	\N	EFO	0	EFO	LP.02 two leaves visible stage	LP.02 two leaves visible stage
PO:0007133	PO:0007098	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007098	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	224551	\N	\N	EFO	1	EFO	leaf production stage	LP.02 two leaves visible stage
PO:0007133	PO:0007098	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007098	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	224552	\N	\N	EFO	1	EFO	leaf production stage	LP.02 two leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007098	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	581440	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.02 two leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007098	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	581441	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.02 two leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007098	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	1165474	\N	\N	EFO	3	EFO	sporophyte development stage	LP.02 two leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007098	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	1165475	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.02 two leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007098	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	2049460	\N	\N	EFO	4	EFO	plant structure development stage	LP.02 two leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007098	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	2049461	\N	\N	EFO	4	EFO	sporophyte development stage	LP.02 two leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007098	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	3199518	\N	\N	EFO	5	EFO	developmental stage	LP.02 two leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007098	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	4404690	\N	\N	EFO	6	EFO	process	LP.02 two leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007098	"The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground." []	5420210	\N	\N	EFO	7	EFO	experimental factor	LP.02 two leaves visible stage
PO:0007101	\N	\N	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	PO:0007101	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	79392	\N	\N	EFO	0	EFO	LP.09 nine leaves visible	LP.09 nine leaves visible
PO:0007133	PO:0007101	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007101	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	224553	\N	\N	EFO	1	EFO	leaf production stage	LP.09 nine leaves visible
PO:0007133	PO:0007101	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007101	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	224554	\N	\N	EFO	1	EFO	leaf production stage	LP.09 nine leaves visible
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007101	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	581442	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.09 nine leaves visible
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007101	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	581443	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.09 nine leaves visible
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007101	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	1165476	\N	\N	EFO	3	EFO	sporophyte development stage	LP.09 nine leaves visible
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007101	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	1165477	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.09 nine leaves visible
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007101	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	2049462	\N	\N	EFO	4	EFO	plant structure development stage	LP.09 nine leaves visible
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007101	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	2049463	\N	\N	EFO	4	EFO	sporophyte development stage	LP.09 nine leaves visible
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007101	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	3199519	\N	\N	EFO	5	EFO	developmental stage	LP.09 nine leaves visible
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007101	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	4404691	\N	\N	EFO	6	EFO	process	LP.09 nine leaves visible
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007101	"The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground." []	5420211	\N	\N	EFO	7	EFO	experimental factor	LP.09 nine leaves visible
PO:0007103	\N	\N	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	PO:0007103	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	79393	\N	\N	EFO	0	EFO	LP.10 ten leaves visible stage	LP.10 ten leaves visible stage
PO:0007133	PO:0007103	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007103	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	224555	\N	\N	EFO	1	EFO	leaf production stage	LP.10 ten leaves visible stage
PO:0007133	PO:0007103	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007103	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	224556	\N	\N	EFO	1	EFO	leaf production stage	LP.10 ten leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007103	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	581444	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.10 ten leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007103	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	581445	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.10 ten leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007103	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	1165478	\N	\N	EFO	3	EFO	sporophyte development stage	LP.10 ten leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007103	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	1165479	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.10 ten leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007103	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	2049464	\N	\N	EFO	4	EFO	plant structure development stage	LP.10 ten leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007103	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	2049465	\N	\N	EFO	4	EFO	sporophyte development stage	LP.10 ten leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007103	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	3199520	\N	\N	EFO	5	EFO	developmental stage	LP.10 ten leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007103	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	4404692	\N	\N	EFO	6	EFO	process	LP.10 ten leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007103	"The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground." []	5420212	\N	\N	EFO	7	EFO	experimental factor	LP.10 ten leaves visible stage
PO:0007104	\N	\N	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	PO:0007104	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	79394	\N	\N	EFO	0	EFO	LP.15 fifteen leaves visible stage	LP.15 fifteen leaves visible stage
PO:0007133	PO:0007104	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007104	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	224557	\N	\N	EFO	1	EFO	leaf production stage	LP.15 fifteen leaves visible stage
PO:0007133	PO:0007104	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007104	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	224558	\N	\N	EFO	1	EFO	leaf production stage	LP.15 fifteen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007104	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	581446	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.15 fifteen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007104	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	581447	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.15 fifteen leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007104	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	1165480	\N	\N	EFO	3	EFO	sporophyte development stage	LP.15 fifteen leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007104	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	1165481	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.15 fifteen leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007104	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	2049466	\N	\N	EFO	4	EFO	plant structure development stage	LP.15 fifteen leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007104	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	2049467	\N	\N	EFO	4	EFO	sporophyte development stage	LP.15 fifteen leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007104	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	3199521	\N	\N	EFO	5	EFO	developmental stage	LP.15 fifteen leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007104	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	4404693	\N	\N	EFO	6	EFO	process	LP.15 fifteen leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007104	"The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground." []	5420213	\N	\N	EFO	7	EFO	experimental factor	LP.15 fifteen leaves visible stage
PO:0007106	\N	\N	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	PO:0007106	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	79395	\N	\N	EFO	0	EFO	LP.03 three leaves visible stage	LP.03 three leaves visible stage
PO:0007133	PO:0007106	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007106	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	224559	\N	\N	EFO	1	EFO	leaf production stage	LP.03 three leaves visible stage
PO:0007133	PO:0007106	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007106	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	224560	\N	\N	EFO	1	EFO	leaf production stage	LP.03 three leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007106	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	581448	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.03 three leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007106	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	581449	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.03 three leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007106	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	1165482	\N	\N	EFO	3	EFO	sporophyte development stage	LP.03 three leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007106	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	1165483	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.03 three leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007106	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	2049468	\N	\N	EFO	4	EFO	plant structure development stage	LP.03 three leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007106	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	2049469	\N	\N	EFO	4	EFO	sporophyte development stage	LP.03 three leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007106	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	3199522	\N	\N	EFO	5	EFO	developmental stage	LP.03 three leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007106	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	4404694	\N	\N	EFO	6	EFO	process	LP.03 three leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007106	"The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground." []	5420214	\N	\N	EFO	7	EFO	experimental factor	LP.03 three leaves visible stage
PO:0007109	\N	\N	"The stage at which maximum stem length is reached." []	PO:0007109	"The stage at which maximum stem length is reached." []	79396	\N	\N	EFO	0	EFO	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007089	PO:0007109	\N	"The stage at which the internodes elongate." []	PO:0007109	"The stage at which maximum stem length is reached." []	224561	\N	\N	EFO	1	EFO	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007089	PO:0007109	\N	"The stage at which the internodes elongate." []	PO:0007109	"The stage at which maximum stem length is reached." []	224562	\N	\N	EFO	1	EFO	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007089	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007109	"The stage at which maximum stem length is reached." []	581450	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007112	PO:0007089	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007109	"The stage at which maximum stem length is reached." []	581451	\N	\N	EFO	2	EFO	1 main shoot growth stage	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007109	"The stage at which maximum stem length is reached." []	1165484	\N	\N	EFO	3	EFO	sporophyte development stage	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007109	"The stage at which maximum stem length is reached." []	1165485	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007109	"The stage at which maximum stem length is reached." []	2049470	\N	\N	EFO	4	EFO	plant structure development stage	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007109	"The stage at which maximum stem length is reached." []	2049471	\N	\N	EFO	4	EFO	sporophyte development stage	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007109	"The stage at which maximum stem length is reached." []	3199523	\N	\N	EFO	5	EFO	developmental stage	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007109	"The stage at which maximum stem length is reached." []	4404695	\N	\N	EFO	6	EFO	process	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007109	"The stage at which maximum stem length is reached." []	5420215	\N	\N	EFO	7	EFO	experimental factor	SE.99 maximum stem length reached stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007112	\N	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007112	"The stage at which vegetative structures are being produced by SAM." []	79397	\N	\N	EFO	0	EFO	1 main shoot growth stage	1 main shoot growth stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007112	"The stage at which vegetative structures are being produced by SAM." []	224563	\N	\N	EFO	1	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	1 main shoot growth stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007112	"The stage at which vegetative structures are being produced by SAM." []	224564	\N	\N	EFO	1	EFO	sporophyte development stage	1 main shoot growth stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007112	"The stage at which vegetative structures are being produced by SAM." []	581452	\N	\N	EFO	2	EFO	sporophyte development stage	1 main shoot growth stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007112	"The stage at which vegetative structures are being produced by SAM." []	581453	\N	\N	EFO	2	EFO	plant structure development stage	1 main shoot growth stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007112	"The stage at which vegetative structures are being produced by SAM." []	1165486	\N	\N	EFO	3	EFO	developmental stage	1 main shoot growth stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007112	"The stage at which vegetative structures are being produced by SAM." []	2049472	\N	\N	EFO	4	EFO	process	1 main shoot growth stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007112	"The stage at which vegetative structures are being produced by SAM." []	3199524	\N	\N	EFO	5	EFO	experimental factor	1 main shoot growth stage
PO:0007113	\N	\N	"Stages of growth based on expansion of the rosette in Arabidopsis." []	PO:0007113	"Stages of growth based on expansion of the rosette in Arabidopsis." []	79398	\N	\N	EFO	0	EFO	rosette growth stage	rosette growth stage
PO:0007112	PO:0007113	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007113	"Stages of growth based on expansion of the rosette in Arabidopsis." []	224565	\N	\N	EFO	1	EFO	1 main shoot growth stage	rosette growth stage
PO:0007112	PO:0007113	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007113	"Stages of growth based on expansion of the rosette in Arabidopsis." []	224566	\N	\N	EFO	1	EFO	1 main shoot growth stage	rosette growth stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007113	"Stages of growth based on expansion of the rosette in Arabidopsis." []	581454	\N	\N	EFO	2	EFO	sporophyte development stage	rosette growth stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007113	"Stages of growth based on expansion of the rosette in Arabidopsis." []	581455	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	rosette growth stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007113	"Stages of growth based on expansion of the rosette in Arabidopsis." []	1165487	\N	\N	EFO	3	EFO	plant structure development stage	rosette growth stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007113	"Stages of growth based on expansion of the rosette in Arabidopsis." []	1165488	\N	\N	EFO	3	EFO	sporophyte development stage	rosette growth stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007113	"Stages of growth based on expansion of the rosette in Arabidopsis." []	2049473	\N	\N	EFO	4	EFO	developmental stage	rosette growth stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007113	"Stages of growth based on expansion of the rosette in Arabidopsis." []	3199525	\N	\N	EFO	5	EFO	process	rosette growth stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007113	"Stages of growth based on expansion of the rosette in Arabidopsis." []	4404696	\N	\N	EFO	6	EFO	experimental factor	rosette growth stage
PO:0007115	\N	\N	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	PO:0007115	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	79399	\N	\N	EFO	0	EFO	LP.04 four leaves visible stage	LP.04 four leaves visible stage
PO:0007133	PO:0007115	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007115	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	224567	\N	\N	EFO	1	EFO	leaf production stage	LP.04 four leaves visible stage
PO:0007133	PO:0007115	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007115	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	224568	\N	\N	EFO	1	EFO	leaf production stage	LP.04 four leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007115	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	581456	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.04 four leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007115	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	581457	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.04 four leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007115	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	1165489	\N	\N	EFO	3	EFO	sporophyte development stage	LP.04 four leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007115	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	1165490	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.04 four leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007115	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	2049474	\N	\N	EFO	4	EFO	plant structure development stage	LP.04 four leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007115	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	2049475	\N	\N	EFO	4	EFO	sporophyte development stage	LP.04 four leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007115	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	3199526	\N	\N	EFO	5	EFO	developmental stage	LP.04 four leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007115	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	4404697	\N	\N	EFO	6	EFO	process	LP.04 four leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007115	"The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground." []	5420216	\N	\N	EFO	7	EFO	experimental factor	LP.04 four leaves visible stage
PO:0007116	\N	\N	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	PO:0007116	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	79400	\N	\N	EFO	0	EFO	LP.11 eleven leaves visible stage	LP.11 eleven leaves visible stage
PO:0007133	PO:0007116	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007116	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	224569	\N	\N	EFO	1	EFO	leaf production stage	LP.11 eleven leaves visible stage
PO:0007133	PO:0007116	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007116	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	224570	\N	\N	EFO	1	EFO	leaf production stage	LP.11 eleven leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007116	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	581458	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.11 eleven leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007116	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	581459	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.11 eleven leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007116	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	1165491	\N	\N	EFO	3	EFO	sporophyte development stage	LP.11 eleven leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007116	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	1165492	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.11 eleven leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007116	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	2049476	\N	\N	EFO	4	EFO	plant structure development stage	LP.11 eleven leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007116	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	2049477	\N	\N	EFO	4	EFO	sporophyte development stage	LP.11 eleven leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007116	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	3199527	\N	\N	EFO	5	EFO	developmental stage	LP.11 eleven leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007116	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	4404698	\N	\N	EFO	6	EFO	process	LP.11 eleven leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007116	"The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground." []	5420217	\N	\N	EFO	7	EFO	experimental factor	LP.11 eleven leaves visible stage
PO:0007117	\N	\N	"The stage at which two nodes or two internodes are visible." []	PO:0007117	"The stage at which two nodes or two internodes are visible." []	79401	\N	\N	EFO	0	EFO	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007089	PO:0007117	\N	"The stage at which the internodes elongate." []	PO:0007117	"The stage at which two nodes or two internodes are visible." []	224571	\N	\N	EFO	1	EFO	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007089	PO:0007117	\N	"The stage at which the internodes elongate." []	PO:0007117	"The stage at which two nodes or two internodes are visible." []	224572	\N	\N	EFO	1	EFO	stem elongation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007089	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007117	"The stage at which two nodes or two internodes are visible." []	581460	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007112	PO:0007089	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007117	"The stage at which two nodes or two internodes are visible." []	581461	\N	\N	EFO	2	EFO	1 main shoot growth stage	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007117	"The stage at which two nodes or two internodes are visible." []	1165493	\N	\N	EFO	3	EFO	sporophyte development stage	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007117	"The stage at which two nodes or two internodes are visible." []	1165494	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007117	"The stage at which two nodes or two internodes are visible." []	2049478	\N	\N	EFO	4	EFO	plant structure development stage	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007117	"The stage at which two nodes or two internodes are visible." []	2049479	\N	\N	EFO	4	EFO	sporophyte development stage	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007117	"The stage at which two nodes or two internodes are visible." []	3199528	\N	\N	EFO	5	EFO	developmental stage	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007117	"The stage at which two nodes or two internodes are visible." []	4404699	\N	\N	EFO	6	EFO	process	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007117	"The stage at which two nodes or two internodes are visible." []	5420218	\N	\N	EFO	7	EFO	experimental factor	SE.02 two nodes or internodes visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007119	\N	\N	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	PO:0007119	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	79402	\N	\N	EFO	0	EFO	LP.16 sixteen leaves visible stage	LP.16 sixteen leaves visible stage
PO:0007133	PO:0007119	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007119	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	224573	\N	\N	EFO	1	EFO	leaf production stage	LP.16 sixteen leaves visible stage
PO:0007133	PO:0007119	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007119	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	224574	\N	\N	EFO	1	EFO	leaf production stage	LP.16 sixteen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007119	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	581462	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.16 sixteen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007119	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	581463	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.16 sixteen leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007119	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	1165495	\N	\N	EFO	3	EFO	sporophyte development stage	LP.16 sixteen leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007119	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	1165496	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.16 sixteen leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007119	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	2049480	\N	\N	EFO	4	EFO	plant structure development stage	LP.16 sixteen leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007119	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	2049481	\N	\N	EFO	4	EFO	sporophyte development stage	LP.16 sixteen leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007119	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	3199529	\N	\N	EFO	5	EFO	developmental stage	LP.16 sixteen leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007119	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	4404700	\N	\N	EFO	6	EFO	process	LP.16 sixteen leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007119	"The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground." []	5420219	\N	\N	EFO	7	EFO	experimental factor	LP.16 sixteen leaves visible stage
PO:0007120	\N	\N	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	PO:0007120	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	79403	\N	\N	EFO	0	EFO	LP.19 nineteen leaves visible stage	LP.19 nineteen leaves visible stage
PO:0007133	PO:0007120	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007120	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	224575	\N	\N	EFO	1	EFO	leaf production stage	LP.19 nineteen leaves visible stage
PO:0007133	PO:0007120	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007120	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	224576	\N	\N	EFO	1	EFO	leaf production stage	LP.19 nineteen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007120	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	581464	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.19 nineteen leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007120	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	581465	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.19 nineteen leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007120	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	1165497	\N	\N	EFO	3	EFO	sporophyte development stage	LP.19 nineteen leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007120	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	1165498	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.19 nineteen leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007120	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	2049482	\N	\N	EFO	4	EFO	plant structure development stage	LP.19 nineteen leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007120	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	2049483	\N	\N	EFO	4	EFO	sporophyte development stage	LP.19 nineteen leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007120	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	3199530	\N	\N	EFO	5	EFO	developmental stage	LP.19 nineteen leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007120	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	4404701	\N	\N	EFO	6	EFO	process	LP.19 nineteen leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007120	"The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground." []	5420220	\N	\N	EFO	7	EFO	experimental factor	LP.19 nineteen leaves visible stage
PO:0007123	\N	\N	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	PO:0007123	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	79404	\N	\N	EFO	0	EFO	LP.06 six leaves visible stage	LP.06 six leaves visible stage
PO:0007133	PO:0007123	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007123	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	224577	\N	\N	EFO	1	EFO	leaf production stage	LP.06 six leaves visible stage
PO:0007133	PO:0007123	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007123	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	224578	\N	\N	EFO	1	EFO	leaf production stage	LP.06 six leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007123	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	581466	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.06 six leaves visible stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007123	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	581467	\N	\N	EFO	2	EFO	1 main shoot growth stage	LP.06 six leaves visible stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007123	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	1165499	\N	\N	EFO	3	EFO	sporophyte development stage	LP.06 six leaves visible stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007123	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	1165500	\N	\N	EFO	3	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	LP.06 six leaves visible stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007123	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	2049484	\N	\N	EFO	4	EFO	plant structure development stage	LP.06 six leaves visible stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007123	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	2049485	\N	\N	EFO	4	EFO	sporophyte development stage	LP.06 six leaves visible stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007123	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	3199531	\N	\N	EFO	5	EFO	developmental stage	LP.06 six leaves visible stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007123	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	4404702	\N	\N	EFO	6	EFO	process	LP.06 six leaves visible stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007123	"The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground." []	5420221	\N	\N	EFO	7	EFO	experimental factor	LP.06 six leaves visible stage
PO:0007131	\N	\N	"The embryonic product of the germination of a seed; the young shoot and root axis." []	PO:0007131	"The embryonic product of the germination of a seed; the young shoot and root axis." []	79405	\N	\N	EFO	0	EFO	seedling development stage	seedling development stage
PO:0007134	PO:0007131	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007131	"The embryonic product of the germination of a seed; the young shoot and root axis." []	224579	\N	\N	EFO	1	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seedling development stage
PO:0028002	PO:0007131	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007131	"The embryonic product of the germination of a seed; the young shoot and root axis." []	224580	\N	\N	EFO	1	EFO	sporophyte development stage	seedling development stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007131	"The embryonic product of the germination of a seed; the young shoot and root axis." []	581468	\N	\N	EFO	2	EFO	sporophyte development stage	seedling development stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007131	"The embryonic product of the germination of a seed; the young shoot and root axis." []	581469	\N	\N	EFO	2	EFO	plant structure development stage	seedling development stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007131	"The embryonic product of the germination of a seed; the young shoot and root axis." []	1165501	\N	\N	EFO	3	EFO	developmental stage	seedling development stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007131	"The embryonic product of the germination of a seed; the young shoot and root axis." []	2049486	\N	\N	EFO	4	EFO	process	seedling development stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007131	"The embryonic product of the germination of a seed; the young shoot and root axis." []	3199532	\N	\N	EFO	5	EFO	experimental factor	seedling development stage
PO:0007133	\N	\N	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	PO:0007133	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	79406	\N	\N	EFO	0	EFO	leaf production stage	leaf production stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007133	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	224581	\N	\N	EFO	1	EFO	1 main shoot growth stage	leaf production stage
PO:0007112	PO:0007133	\N	"The stage at which vegetative structures are being produced by SAM." []	PO:0007133	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	224582	\N	\N	EFO	1	EFO	1 main shoot growth stage	leaf production stage
PO:0028002	PO:0007112	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007133	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	581470	\N	\N	EFO	2	EFO	sporophyte development stage	leaf production stage
PO:0007134	PO:0007112	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007133	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	581471	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf production stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007133	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	1165502	\N	\N	EFO	3	EFO	plant structure development stage	leaf production stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007133	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	1165503	\N	\N	EFO	3	EFO	sporophyte development stage	leaf production stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007133	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	2049487	\N	\N	EFO	4	EFO	developmental stage	leaf production stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007133	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	3199533	\N	\N	EFO	5	EFO	process	leaf production stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007133	"The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant." []	4404703	\N	\N	EFO	6	EFO	experimental factor	leaf production stage
PO:0007134	\N	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007134	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	79407	\N	\N	EFO	0	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007134	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	224583	\N	\N	EFO	1	EFO	sporophyte development stage	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007134	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	224584	\N	\N	EFO	1	EFO	sporophyte development stage	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007134	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	581472	\N	\N	EFO	2	EFO	plant structure development stage	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007134	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	1165504	\N	\N	EFO	3	EFO	developmental stage	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007134	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	2049488	\N	\N	EFO	4	EFO	process	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007134	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	3199534	\N	\N	EFO	5	EFO	experimental factor	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007600	\N	\N	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	PO:0007600	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	79408	\N	\N	EFO	0	EFO	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007600	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007600	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	224585	\N	\N	EFO	1	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007600	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007600	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	224586	\N	\N	EFO	1	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007600	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	581473	\N	\N	EFO	2	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007600	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	581474	\N	\N	EFO	2	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007615	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007600	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	1165505	\N	\N	EFO	3	EFO	plant structure development stage	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007600	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	2049489	\N	\N	EFO	4	EFO	developmental stage	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007600	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	3199535	\N	\N	EFO	5	EFO	process	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007600	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	4404704	\N	\N	EFO	6	EFO	experimental factor	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007601	\N	\N	"A floral organ formation stage (PO:0025585) which begins with the development of the floral organ meristem (PO:0000229) from a portion of meristem tissue (PO:0009013) and ends with the beginning of the floral organ primordium development stage (PO:0007602)." []	PO:0007601	"A floral organ formation stage (PO:0025585) which begins with the development of the floral organ meristem (PO:0000229) from a portion of meristem tissue (PO:0009013) and ends with the beginning of the floral organ primordium development stage (PO:0007602)." []	79409	\N	\N	EFO	0	EFO	floral organ meristem development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ meristem development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007601	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007601	"A floral organ formation stage (PO:0025585) which begins with the development of the floral organ meristem (PO:0000229) from a portion of meristem tissue (PO:0009013) and ends with the beginning of the floral organ primordium development stage (PO:0007602)." []	224587	\N	\N	EFO	1	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ meristem development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007601	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007601	"A floral organ formation stage (PO:0025585) which begins with the development of the floral organ meristem (PO:0000229) from a portion of meristem tissue (PO:0009013) and ends with the beginning of the floral organ primordium development stage (PO:0007602)." []	224588	\N	\N	EFO	1	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ meristem development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007601	"A floral organ formation stage (PO:0025585) which begins with the development of the floral organ meristem (PO:0000229) from a portion of meristem tissue (PO:0009013) and ends with the beginning of the floral organ primordium development stage (PO:0007602)." []	581475	\N	\N	EFO	2	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ meristem development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007601	"A floral organ formation stage (PO:0025585) which begins with the development of the floral organ meristem (PO:0000229) from a portion of meristem tissue (PO:0009013) and ends with the beginning of the floral organ primordium development stage (PO:0007602)." []	581476	\N	\N	EFO	2	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ meristem development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007615	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007601	"A floral organ formation stage (PO:0025585) which begins with the development of the floral organ meristem (PO:0000229) from a portion of meristem tissue (PO:0009013) and ends with the beginning of the floral organ primordium development stage (PO:0007602)." []	1165506	\N	\N	EFO	3	EFO	plant structure development stage	floral organ meristem development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007601	"A floral organ formation stage (PO:0025585) which begins with the development of the floral organ meristem (PO:0000229) from a portion of meristem tissue (PO:0009013) and ends with the beginning of the floral organ primordium development stage (PO:0007602)." []	2049490	\N	\N	EFO	4	EFO	developmental stage	floral organ meristem development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007601	"A floral organ formation stage (PO:0025585) which begins with the development of the floral organ meristem (PO:0000229) from a portion of meristem tissue (PO:0009013) and ends with the beginning of the floral organ primordium development stage (PO:0007602)." []	3199536	\N	\N	EFO	5	EFO	process	floral organ meristem development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007601	"A floral organ formation stage (PO:0025585) which begins with the development of the floral organ meristem (PO:0000229) from a portion of meristem tissue (PO:0009013) and ends with the beginning of the floral organ primordium development stage (PO:0007602)." []	4404705	\N	\N	EFO	6	EFO	experimental factor	floral organ meristem development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007603	\N	\N	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a calyx (PO:0009060)." []	PO:0007603	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a calyx (PO:0009060)." []	79410	\N	\N	EFO	0	EFO	calyx development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	calyx development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025578	\N	\N	"A collective plant organ stucture development stage (PO:0025338) that has as primary participant collective phyllome structure (PO:0025023)." [POC:Laura_Moore]	PO:0007603	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a calyx (PO:0009060)." []	195814	\N	\N	EFO	0	EFO	collective phyllome structure development stage	calyx development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007600	PO:0007603	\N	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	PO:0007603	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a calyx (PO:0009060)." []	224589	\N	\N	EFO	1	EFO	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	calyx development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007603	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007603	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a calyx (PO:0009060)." []	224590	\N	\N	EFO	1	EFO	plant structure development stage	calyx development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007600	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007603	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a calyx (PO:0009060)." []	581477	\N	\N	EFO	2	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	calyx development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007603	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a calyx (PO:0009060)." []	581478	\N	\N	EFO	2	EFO	developmental stage	calyx development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007603	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a calyx (PO:0009060)." []	1165507	\N	\N	EFO	3	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	calyx development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007603	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a calyx (PO:0009060)." []	1165508	\N	\N	EFO	3	EFO	process	calyx development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007603	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a calyx (PO:0009060)." []	2049491	\N	\N	EFO	4	EFO	experimental factor	calyx development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007604	\N	\N	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	PO:0007604	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	79411	\N	\N	EFO	0	EFO	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025578	\N	\N	"A collective plant organ stucture development stage (PO:0025338) that has as primary participant collective phyllome structure (PO:0025023)." [POC:Laura_Moore]	PO:0007604	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	195815	\N	\N	EFO	0	EFO	collective phyllome structure development stage	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007600	PO:0007604	\N	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	PO:0007604	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	224591	\N	\N	EFO	1	EFO	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007600	PO:0007604	\N	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	PO:0007604	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	224592	\N	\N	EFO	1	EFO	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007600	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007604	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	581479	\N	\N	EFO	2	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007600	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007604	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	581480	\N	\N	EFO	2	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007604	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	1165509	\N	\N	EFO	3	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007604	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	1165510	\N	\N	EFO	3	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007615	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007604	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	2049492	\N	\N	EFO	4	EFO	plant structure development stage	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007604	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	3199537	\N	\N	EFO	5	EFO	developmental stage	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007604	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	4404706	\N	\N	EFO	6	EFO	process	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007604	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	5420222	\N	\N	EFO	7	EFO	experimental factor	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007605	\N	\N	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant an androecium (PO:0009061)." []	PO:0007605	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant an androecium (PO:0009061)." []	79412	\N	\N	EFO	0	EFO	androecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	androecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025578	\N	\N	"A collective plant organ stucture development stage (PO:0025338) that has as primary participant collective phyllome structure (PO:0025023)." [POC:Laura_Moore]	PO:0007605	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant an androecium (PO:0009061)." []	195816	\N	\N	EFO	0	EFO	collective phyllome structure development stage	androecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007600	PO:0007605	\N	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	PO:0007605	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant an androecium (PO:0009061)." []	224593	\N	\N	EFO	1	EFO	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	androecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007605	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007605	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant an androecium (PO:0009061)." []	224594	\N	\N	EFO	1	EFO	plant structure development stage	androecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007600	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007605	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant an androecium (PO:0009061)." []	581481	\N	\N	EFO	2	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	androecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007605	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant an androecium (PO:0009061)." []	581482	\N	\N	EFO	2	EFO	developmental stage	androecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007605	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant an androecium (PO:0009061)." []	1165511	\N	\N	EFO	3	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	androecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007605	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant an androecium (PO:0009061)." []	1165512	\N	\N	EFO	3	EFO	process	androecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007605	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant an androecium (PO:0009061)." []	2049493	\N	\N	EFO	4	EFO	experimental factor	androecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007606	\N	\N	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	PO:0007606	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	79413	\N	\N	EFO	0	EFO	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025578	\N	\N	"A collective plant organ stucture development stage (PO:0025338) that has as primary participant collective phyllome structure (PO:0025023)." [POC:Laura_Moore]	PO:0007606	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	195817	\N	\N	EFO	0	EFO	collective phyllome structure development stage	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007600	PO:0007606	\N	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	PO:0007606	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	224595	\N	\N	EFO	1	EFO	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007600	PO:0007606	\N	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	PO:0007606	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	224596	\N	\N	EFO	1	EFO	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007600	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007606	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	581483	\N	\N	EFO	2	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007600	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007606	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	581484	\N	\N	EFO	2	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007606	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	1165513	\N	\N	EFO	3	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007606	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	1165514	\N	\N	EFO	3	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007615	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007606	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	2049494	\N	\N	EFO	4	EFO	plant structure development stage	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007606	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	3199538	\N	\N	EFO	5	EFO	developmental stage	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007606	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	4404707	\N	\N	EFO	6	EFO	process	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007606	"A collective phyllome structure development stage (PO:0025578) that has a primary participant a gynoecium (PO:0009062)." []	5420223	\N	\N	EFO	7	EFO	experimental factor	gynoecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007607	\N	\N	"Stage of calyx development that begins when the sepal primordia arise." []	PO:0007607	"Stage of calyx development that begins when the sepal primordia arise." []	79414	\N	\N	EFO	0	EFO	sepal primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sepal primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007603	PO:0007607	\N	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a calyx (PO:0009060)." []	PO:0007607	"Stage of calyx development that begins when the sepal primordia arise." []	224597	\N	\N	EFO	1	EFO	calyx development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sepal primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007603	PO:0007607	\N	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a calyx (PO:0009060)." []	PO:0007607	"Stage of calyx development that begins when the sepal primordia arise." []	224598	\N	\N	EFO	1	EFO	calyx development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sepal primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007603	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007607	"Stage of calyx development that begins when the sepal primordia arise." []	581485	\N	\N	EFO	2	EFO	plant structure development stage	sepal primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007600	PO:0007603	\N	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	PO:0007607	"Stage of calyx development that begins when the sepal primordia arise." []	581486	\N	\N	EFO	2	EFO	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sepal primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007607	"Stage of calyx development that begins when the sepal primordia arise." []	1165515	\N	\N	EFO	3	EFO	developmental stage	sepal primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007600	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007607	"Stage of calyx development that begins when the sepal primordia arise." []	1165516	\N	\N	EFO	3	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sepal primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007607	"Stage of calyx development that begins when the sepal primordia arise." []	2049495	\N	\N	EFO	4	EFO	process	sepal primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007607	"Stage of calyx development that begins when the sepal primordia arise." []	2049496	\N	\N	EFO	4	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sepal primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007607	"Stage of calyx development that begins when the sepal primordia arise." []	3199539	\N	\N	EFO	5	EFO	experimental factor	sepal primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007611	\N	\N	"Stage of corolla development defined by differentiation and expansion of petal." []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	79415	\N	\N	EFO	0	EFO	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007604	PO:0007611	\N	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	224599	\N	\N	EFO	1	EFO	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007604	PO:0007611	\N	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant a corolla (PO:0009059)." []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	224600	\N	\N	EFO	1	EFO	corolla development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007600	PO:0007604	\N	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	581487	\N	\N	EFO	2	EFO	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007600	PO:0007604	\N	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	581488	\N	\N	EFO	2	EFO	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007600	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	1165517	\N	\N	EFO	3	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007600	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	1165518	\N	\N	EFO	3	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	2049497	\N	\N	EFO	4	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	2049498	\N	\N	EFO	4	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007615	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	3199540	\N	\N	EFO	5	EFO	plant structure development stage	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	4404708	\N	\N	EFO	6	EFO	developmental stage	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	5420224	\N	\N	EFO	7	EFO	process	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007611	"Stage of corolla development defined by differentiation and expansion of petal." []	6154132	\N	\N	EFO	8	EFO	experimental factor	petal differentiation and expansion stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007613	\N	\N	"Stage of androecium development that begins when the stamens or petal-stamen primordia arise." []	PO:0007613	"Stage of androecium development that begins when the stamens or petal-stamen primordia arise." []	79416	\N	\N	EFO	0	EFO	stamen primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stamen primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007605	PO:0007613	\N	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant an androecium (PO:0009061)." []	PO:0007613	"Stage of androecium development that begins when the stamens or petal-stamen primordia arise." []	224601	\N	\N	EFO	1	EFO	androecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stamen primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007605	PO:0007613	\N	"A collective phyllome structure development stage (PO:0025578) that has as a primary participant an androecium (PO:0009061)." []	PO:0007613	"Stage of androecium development that begins when the stamens or petal-stamen primordia arise." []	224602	\N	\N	EFO	1	EFO	androecium development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stamen primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007605	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007613	"Stage of androecium development that begins when the stamens or petal-stamen primordia arise." []	581489	\N	\N	EFO	2	EFO	plant structure development stage	stamen primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007600	PO:0007605	\N	"A floral organ formation stage (PO:0025585) which begins with the differentiation of floral organs (PO:0025395) from the floral organ primordium (PO:0025477) and ends with the beginning of the flowering stage (PO:0007616)." []	PO:0007613	"Stage of androecium development that begins when the stamens or petal-stamen primordia arise." []	581490	\N	\N	EFO	2	EFO	floral organ differentiation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stamen primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007613	"Stage of androecium development that begins when the stamens or petal-stamen primordia arise." []	1165519	\N	\N	EFO	3	EFO	developmental stage	stamen primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	PO:0007600	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0007613	"Stage of androecium development that begins when the stamens or petal-stamen primordia arise." []	1165520	\N	\N	EFO	3	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stamen primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007613	"Stage of androecium development that begins when the stamens or petal-stamen primordia arise." []	2049499	\N	\N	EFO	4	EFO	process	stamen primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007613	"Stage of androecium development that begins when the stamens or petal-stamen primordia arise." []	2049500	\N	\N	EFO	4	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stamen primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007613	"Stage of androecium development that begins when the stamens or petal-stamen primordia arise." []	3199541	\N	\N	EFO	5	EFO	experimental factor	stamen primordium visible stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	\N	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0007615	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	79417	\N	\N	EFO	0	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025530	\N	\N	"A shoot system development stage (PO:0025527) that has as primary participant a reproductive shoot system (PO:0025082)." [POC:Laurel_Cooper]	PO:0007615	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	195818	\N	\N	EFO	0	EFO	reproductive shoot system development stage	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007615	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007615	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	224603	\N	\N	EFO	1	EFO	plant structure development stage	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007615	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	581491	\N	\N	EFO	2	EFO	developmental stage	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007615	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	1165521	\N	\N	EFO	3	EFO	process	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007615	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	2049501	\N	\N	EFO	4	EFO	experimental factor	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007631	\N	\N	"A sporophyte vegetative stage (PO:0007134) that occurs during the interval between the first cell division of a plant zygote (PO:0000423) and one of the following: the beginning of the seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010)." []	PO:0007631	"A sporophyte vegetative stage (PO:0007134) that occurs during the interval between the first cell division of a plant zygote (PO:0000423) and one of the following: the beginning of the seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010)." []	79418	\N	\N	EFO	0	EFO	plant embryo development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant embryo development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007134	PO:0007631	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0007631	"A sporophyte vegetative stage (PO:0007134) that occurs during the interval between the first cell division of a plant zygote (PO:0000423) and one of the following: the beginning of the seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010)." []	224604	\N	\N	EFO	1	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant embryo development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007631	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007631	"A sporophyte vegetative stage (PO:0007134) that occurs during the interval between the first cell division of a plant zygote (PO:0000423) and one of the following: the beginning of the seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010)." []	224605	\N	\N	EFO	1	EFO	sporophyte development stage	plant embryo development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0007631	"A sporophyte vegetative stage (PO:0007134) that occurs during the interval between the first cell division of a plant zygote (PO:0000423) and one of the following: the beginning of the seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010)." []	581492	\N	\N	EFO	2	EFO	sporophyte development stage	plant embryo development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007631	"A sporophyte vegetative stage (PO:0007134) that occurs during the interval between the first cell division of a plant zygote (PO:0000423) and one of the following: the beginning of the seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010)." []	581493	\N	\N	EFO	2	EFO	plant structure development stage	plant embryo development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007631	"A sporophyte vegetative stage (PO:0007134) that occurs during the interval between the first cell division of a plant zygote (PO:0000423) and one of the following: the beginning of the seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010)." []	1165522	\N	\N	EFO	3	EFO	developmental stage	plant embryo development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007631	"A sporophyte vegetative stage (PO:0007134) that occurs during the interval between the first cell division of a plant zygote (PO:0000423) and one of the following: the beginning of the seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010)." []	2049502	\N	\N	EFO	4	EFO	process	plant embryo development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007631	"A sporophyte vegetative stage (PO:0007134) that occurs during the interval between the first cell division of a plant zygote (PO:0000423) and one of the following: the beginning of the seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010)." []	3199542	\N	\N	EFO	5	EFO	experimental factor	plant embryo development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007632	\N	\N	"Stage during which the seed storage products (storage proteins, lipids and starch) are being accumulated, either in the cotyledons or in the endosperm. Also, LEA proteins are accumulated and subsequently, a desiccation tolerant state is reached at the end of this stage." []	PO:0007632	"Stage during which the seed storage products (storage proteins, lipids and starch) are being accumulated, either in the cotyledons or in the endosperm. Also, LEA proteins are accumulated and subsequently, a desiccation tolerant state is reached at the end of this stage." []	79419	\N	\N	EFO	0	EFO	seed maturation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seed maturation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001170	PO:0007632	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	PO:0007632	"Stage during which the seed storage products (storage proteins, lipids and starch) are being accumulated, either in the cotyledons or in the endosperm. Also, LEA proteins are accumulated and subsequently, a desiccation tolerant state is reached at the end of this stage." []	224606	\N	\N	EFO	1	EFO	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seed maturation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001170	PO:0007632	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a seed (PO:0009010)." []	PO:0007632	"Stage during which the seed storage products (storage proteins, lipids and starch) are being accumulated, either in the cotyledons or in the endosperm. Also, LEA proteins are accumulated and subsequently, a desiccation tolerant state is reached at the end of this stage." []	224607	\N	\N	EFO	1	EFO	seed development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seed maturation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0001170	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0007632	"Stage during which the seed storage products (storage proteins, lipids and starch) are being accumulated, either in the cotyledons or in the endosperm. Also, LEA proteins are accumulated and subsequently, a desiccation tolerant state is reached at the end of this stage." []	581494	\N	\N	EFO	2	EFO	plant structure development stage	seed maturation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0007632	"Stage during which the seed storage products (storage proteins, lipids and starch) are being accumulated, either in the cotyledons or in the endosperm. Also, LEA proteins are accumulated and subsequently, a desiccation tolerant state is reached at the end of this stage." []	1165523	\N	\N	EFO	3	EFO	developmental stage	seed maturation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0007632	"Stage during which the seed storage products (storage proteins, lipids and starch) are being accumulated, either in the cotyledons or in the endosperm. Also, LEA proteins are accumulated and subsequently, a desiccation tolerant state is reached at the end of this stage." []	2049503	\N	\N	EFO	4	EFO	process	seed maturation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0007632	"Stage during which the seed storage products (storage proteins, lipids and starch) are being accumulated, either in the cotyledons or in the endosperm. Also, LEA proteins are accumulated and subsequently, a desiccation tolerant state is reached at the end of this stage." []	3199543	\N	\N	EFO	5	EFO	experimental factor	seed maturation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0008016	\N	\N	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	79420	\N	\N	EFO	0	EFO	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020148	PO:0008016	\N	"" []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	224608	\N	\N	EFO	1	EFO	shoot apical meristem	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020148	PO:0008016	\N	"" []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	224609	\N	\N	EFO	1	EFO	shoot apical meristem	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0020148	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	581495	\N	\N	EFO	2	EFO	shoot	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0020148	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	581496	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009013	PO:0020148	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	581497	\N	\N	EFO	2	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000037	PO:0020148	\N	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	581498	\N	\N	EFO	2	EFO	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020144	PO:0020148	\N	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	581499	\N	\N	EFO	2	EFO	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	1165524	\N	\N	EFO	3	EFO	plant component	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	1165525	\N	\N	EFO	3	EFO	plant anatomical entity	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	1165526	\N	\N	EFO	3	EFO	plant component	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	1165527	\N	\N	EFO	3	EFO	plant anatomical entity	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	1165528	\N	\N	EFO	3	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0000037	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	1165529	\N	\N	EFO	3	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009013	PO:0020144	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	1165530	\N	\N	EFO	3	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	4404710	\N	\N	EFO	6	EFO	anatomy basic component	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	4404711	\N	\N	EFO	6	EFO	anatomy basic component	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	2049506	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	2049507	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	2049508	\N	\N	EFO	4	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	5060379	\N	\N	EFO	7	EFO	organism part	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	3199545	\N	\N	EFO	5	EFO	plant component	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	3199546	\N	\N	EFO	5	EFO	plant anatomical entity	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	3199547	\N	\N	EFO	5	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	5877964	\N	\N	EFO	8	EFO	material entity	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	4404712	\N	\N	EFO	6	EFO	plant anatomical entity	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0008016	"A shoot apical meristem (PO:0020148) that gives rise to the apical growth of vegetative tissues and organs." []	6471190	\N	\N	EFO	9	EFO	experimental factor	vegetative shoot apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009001	\N	\N	"A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062) and may have as parts one or more seeds (PO:0009010)." []	PO:0009001	"A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062) and may have as parts one or more seeds (PO:0009010)." []	79421	\N	\N	EFO	0	EFO	fruit {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025496	\N	\N	"A plant structure (PO:0009011) that has as parts two or more portions of plant tissue (PO:0009007) of at least two different types and which through specific morphogenetic processes forms a single structural unit demarcated by primarily bona-fide boundaries from other structural units of different types." [CARO:0000055, POC:curators]	PO:0009001	"A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062) and may have as parts one or more seeds (PO:0009010)." []	195819	\N	\N	EFO	0	EFO	multi-tissue plant structure	fruit {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009001	\N	"" []	PO:0009001	"A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062) and may have as parts one or more seeds (PO:0009010)." []	224610	\N	\N	EFO	1	EFO	plant component	fruit {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009001	\N	"An anatomical entity that is or was part of a plant." []	PO:0009001	"A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062) and may have as parts one or more seeds (PO:0009010)." []	224611	\N	\N	EFO	1	EFO	plant anatomical entity	fruit {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009001	"A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062) and may have as parts one or more seeds (PO:0009010)." []	581500	\N	\N	EFO	2	EFO	anatomy basic component	fruit {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009001	"A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062) and may have as parts one or more seeds (PO:0009010)." []	581501	\N	\N	EFO	2	EFO	anatomy basic component	fruit {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009001	"A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062) and may have as parts one or more seeds (PO:0009010)." []	1165531	\N	\N	EFO	3	EFO	organism part	fruit {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009001	"A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062) and may have as parts one or more seeds (PO:0009010)." []	2049509	\N	\N	EFO	4	EFO	material entity	fruit {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009001	"A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062) and may have as parts one or more seeds (PO:0009010)." []	3199548	\N	\N	EFO	5	EFO	experimental factor	fruit {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	\N	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0009002	"A cell which is a plant structure (PO:0009011)." []	79422	\N	\N	EFO	0	EFO	plant cell	plant cell
EFO:0000324	PO:0009002	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	PO:0009002	"A cell which is a plant structure (PO:0009011)." []	224612	\N	\N	EFO	1	EFO	cell type	plant cell
PO:0009011	PO:0009002	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009002	"A cell which is a plant structure (PO:0009011)." []	224613	\N	\N	EFO	1	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant cell
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009002	"A cell which is a plant structure (PO:0009011)." []	581502	\N	\N	EFO	2	EFO	material entity	plant cell
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009002	"A cell which is a plant structure (PO:0009011)." []	581503	\N	\N	EFO	2	EFO	plant anatomical entity	plant cell
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009002	"A cell which is a plant structure (PO:0009011)." []	1165532	\N	\N	EFO	3	EFO	experimental factor	plant cell
PO:0009005	\N	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0009005	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	79423	\N	\N	EFO	0	EFO	root	root
PO:0025004	\N	\N	"An axial plant organ (PO:0009008)." [POC:curators]	PO:0009005	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	195820	\N	TraitNet	EFO	0	EFO	plant axis	root
PO:0025025	\N	\N	"A collective plant organ structure (PO:0025007) that produces root meristems (PO:0006085), the plant structures (PO:0009011) that arise from them and the parts thereof." [POC:curators, POC:Laurel_Cooper]	PO:0009005	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	195821	\N	TraitNet	EFO	0	EFO	root system	root
EFO:0000789	PO:0009005	\N	"" []	PO:0009005	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	224614	\N	\N	EFO	1	EFO	plant component	root
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0009005	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	224615	\N	\N	EFO	1	EFO	plant anatomical entity	root
EFO:0000786	EFO:0000789	\N	"" []	PO:0009005	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	581504	\N	\N	EFO	2	EFO	anatomy basic component	root
EFO:0000786	PO:0025131	\N	"" []	PO:0009005	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	581505	\N	\N	EFO	2	EFO	anatomy basic component	root
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009005	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	1165533	\N	\N	EFO	3	EFO	organism part	root
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009005	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	2049510	\N	\N	EFO	4	EFO	material entity	root
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009005	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	3199549	\N	\N	EFO	5	EFO	experimental factor	root
PO:0009006	\N	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009006	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	79424	\N	\N	EFO	0	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025007	\N	\N	"A collective plant structure (PO:0025497) that is a proper part of a whole plant (PO:0000003), and is composed of two or more adjacent plant organs (PO:0009008) and the associated portions of plant tissue (PO:0009007)." [POC:curators]	PO:0009006	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	195822	\N	TraitNet	EFO	0	EFO	collective plant organ structure	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009006	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	224616	\N	\N	EFO	1	EFO	plant component	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009006	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	224617	\N	\N	EFO	1	EFO	plant anatomical entity	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009006	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	581506	\N	\N	EFO	2	EFO	anatomy basic component	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009006	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	581507	\N	\N	EFO	2	EFO	anatomy basic component	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009006	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	1165534	\N	\N	EFO	3	EFO	organism part	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009006	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	2049511	\N	\N	EFO	4	EFO	material entity	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009006	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	3199550	\N	\N	EFO	5	EFO	experimental factor	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	\N	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0009007	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	79425	\N	\N	EFO	0	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009007	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	224618	\N	\N	EFO	1	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009007	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	224619	\N	\N	EFO	1	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0009007	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	581508	\N	\N	EFO	2	EFO	plant component	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009007	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	581509	\N	\N	EFO	2	EFO	plant anatomical entity	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009007	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	581510	\N	\N	EFO	2	EFO	plant anatomical entity	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009007	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	1165535	\N	\N	EFO	3	EFO	anatomy basic component	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009007	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	1165536	\N	\N	EFO	3	EFO	anatomy basic component	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009007	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	2049512	\N	\N	EFO	4	EFO	organism part	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009007	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	3199551	\N	\N	EFO	5	EFO	material entity	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009007	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	4404713	\N	\N	EFO	6	EFO	experimental factor	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009009	\N	\N	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	PO:0009009	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	79426	\N	\N	EFO	0	EFO	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009009	\N	"" []	PO:0009009	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	224620	\N	\N	EFO	1	EFO	plant component	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0009009	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0009009	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	224621	\N	\N	EFO	1	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009009	\N	"An anatomical entity that is or was part of a plant." []	PO:0009009	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	224622	\N	\N	EFO	1	EFO	plant anatomical entity	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009009	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	581511	\N	\N	EFO	2	EFO	anatomy basic component	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009009	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	581512	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009009	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	581513	\N	\N	EFO	2	EFO	anatomy basic component	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009009	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	1165537	\N	\N	EFO	3	EFO	organism part	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009009	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	1165538	\N	\N	EFO	3	EFO	plant anatomical entity	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009009	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	2049513	\N	\N	EFO	4	EFO	material entity	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009009	"A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." []	3199552	\N	\N	EFO	5	EFO	experimental factor	plant embryo {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009010	\N	\N	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	PO:0009010	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	79427	\N	\N	EFO	0	EFO	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025496	\N	\N	"A plant structure (PO:0009011) that has as parts two or more portions of plant tissue (PO:0009007) of at least two different types and which through specific morphogenetic processes forms a single structural unit demarcated by primarily bona-fide boundaries from other structural units of different types." [CARO:0000055, POC:curators]	PO:0009010	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	195823	\N	\N	EFO	0	EFO	multi-tissue plant structure	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009010	\N	"" []	PO:0009010	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	224623	\N	\N	EFO	1	EFO	plant component	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009010	\N	"An anatomical entity that is or was part of a plant." []	PO:0009010	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	224624	\N	\N	EFO	1	EFO	plant anatomical entity	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009010	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	581514	\N	\N	EFO	2	EFO	anatomy basic component	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009010	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	581515	\N	\N	EFO	2	EFO	anatomy basic component	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009010	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	1165539	\N	\N	EFO	3	EFO	organism part	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009010	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	2049514	\N	\N	EFO	4	EFO	material entity	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009010	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	3199553	\N	\N	EFO	5	EFO	experimental factor	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	\N	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009011	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	79428	\N	\N	EFO	0	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0009011	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	224625	\N	\N	EFO	1	EFO	plant component	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009011	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	224626	\N	\N	EFO	1	EFO	plant anatomical entity	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009011	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	224627	\N	\N	EFO	1	EFO	plant anatomical entity	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009011	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	581516	\N	\N	EFO	2	EFO	anatomy basic component	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009011	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	581517	\N	\N	EFO	2	EFO	anatomy basic component	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009011	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	1165540	\N	\N	EFO	3	EFO	organism part	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009011	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	2049515	\N	\N	EFO	4	EFO	material entity	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009011	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	3199554	\N	\N	EFO	5	EFO	experimental factor	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	\N	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0009012	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	79429	\N	\N	EFO	0	EFO	plant structure development stage	plant structure development stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0009012	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	224628	\N	\N	EFO	1	EFO	developmental stage	plant structure development stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0009012	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	581518	\N	\N	EFO	2	EFO	process	plant structure development stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009012	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	1165541	\N	\N	EFO	3	EFO	experimental factor	plant structure development stage
PO:0009013	\N	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	79430	\N	\N	EFO	0	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	224629	\N	\N	EFO	1	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	224630	\N	\N	EFO	1	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	581519	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	581520	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	1165542	\N	\N	EFO	3	EFO	plant component	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	1165543	\N	\N	EFO	3	EFO	plant anatomical entity	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	1165544	\N	\N	EFO	3	EFO	plant anatomical entity	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	2049516	\N	\N	EFO	4	EFO	anatomy basic component	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	2049517	\N	\N	EFO	4	EFO	anatomy basic component	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	3199555	\N	\N	EFO	5	EFO	organism part	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	4404714	\N	\N	EFO	6	EFO	material entity	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009013	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	5420226	\N	\N	EFO	7	EFO	experimental factor	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009015	\N	\N	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	79431	\N	\N	EFO	0	EFO	vascular tissue	vascular tissue
EFO:0000789	PO:0009015	\N	"" []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	224631	\N	\N	EFO	1	EFO	plant component	vascular tissue
PO:0000034	PO:0009015	\N	"A maximal portion of vascular tissue (PO:0009015) in a whole plant (PO:0000003), collective plant structure (PO:0025497), multi-tissue plant structure (PO:0025496), or cardinal part of multi-tissue plant structure (PO:0025498)." []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	224632	\N	\N	EFO	1	EFO	vascular system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular tissue
PO:0009007	PO:0009015	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	224633	\N	\N	EFO	1	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular tissue
PO:0025131	PO:0009015	\N	"An anatomical entity that is or was part of a plant." []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	224634	\N	\N	EFO	1	EFO	plant anatomical entity	vascular tissue
EFO:0000786	EFO:0000789	\N	"" []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	581521	\N	\N	EFO	2	EFO	anatomy basic component	vascular tissue
PO:0000003	PO:0000034	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	581522	\N	\N	EFO	2	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular tissue
PO:0009007	PO:0000034	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	581523	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular tissue
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	1165547	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular tissue
EFO:0000786	PO:0025131	\N	"" []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	581525	\N	\N	EFO	2	EFO	anatomy basic component	vascular tissue
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	1165545	\N	\N	EFO	3	EFO	organism part	vascular tissue
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	1165546	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular tissue
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	1965416	\N	\N	EFO	4	EFO	plant anatomical entity	vascular tissue
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	2049518	\N	\N	EFO	4	EFO	material entity	vascular tissue
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009015	"The supportive and conductive tissue in plants, consisting of xylem and phloem." []	3199556	\N	\N	EFO	5	EFO	experimental factor	vascular tissue
PO:0009025	\N	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	79432	\N	\N	EFO	0	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	224635	\N	\N	EFO	1	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	224636	\N	\N	EFO	1	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	581526	\N	\N	EFO	2	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	581527	\N	\N	EFO	2	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	1165549	\N	\N	EFO	3	EFO	shoot	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	1165550	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	1165551	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	2049519	\N	\N	EFO	4	EFO	plant component	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	2049520	\N	\N	EFO	4	EFO	plant anatomical entity	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	2049521	\N	\N	EFO	4	EFO	plant component	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	2049522	\N	\N	EFO	4	EFO	plant anatomical entity	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	3199557	\N	\N	EFO	5	EFO	anatomy basic component	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	3199558	\N	\N	EFO	5	EFO	anatomy basic component	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	4404715	\N	\N	EFO	6	EFO	organism part	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	5420227	\N	\N	EFO	7	EFO	material entity	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009025	"A leaf (PO:0025034) in a vascular plant." []	6154133	\N	\N	EFO	8	EFO	experimental factor	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009029	\N	\N	"A microsporophyll bearing one or more microsporangia." []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	79433	\N	\N	EFO	0	EFO	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009028	\N	\N	"A structure on which one or more microsporangia are borne; in flowering plants, the stamen." [APweb:Glossary]	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	195824	\N	TraitNet	EFO	0	EFO	microsporophyll	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009061	\N	\N	"A collective phyllome structure (PO:0025023) composed all of the stamens (PO:0009029) in a flower (PO:0009046)." [POC:curators]	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	195825	\N	Maize,Poaceae,reference,TraitNet	EFO	0	EFO	androecium	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009029	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	224637	\N	\N	EFO	1	EFO	flower	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009046	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	581528	\N	\N	EFO	2	EFO	shoot	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000998	PO:0009046	\N	"" []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	581529	\N	\N	EFO	2	EFO	plant reproductive system structure	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0001948	PO:0009046	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	581530	\N	\N	EFO	2	EFO	shoot component	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009046	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	581531	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	1165552	\N	\N	EFO	3	EFO	plant component	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	1165553	\N	\N	EFO	3	EFO	plant anatomical entity	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000998	\N	"" []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	1165554	\N	\N	EFO	3	EFO	plant component	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	1165555	\N	\N	EFO	3	EFO	plant anatomical entity	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0001948	\N	"" []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	1165556	\N	\N	EFO	3	EFO	plant component	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	1165557	\N	\N	EFO	3	EFO	plant anatomical entity	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	1165558	\N	\N	EFO	3	EFO	plant component	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	1165559	\N	\N	EFO	3	EFO	plant anatomical entity	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	2049523	\N	\N	EFO	4	EFO	anatomy basic component	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	2049524	\N	\N	EFO	4	EFO	anatomy basic component	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	3199559	\N	\N	EFO	5	EFO	organism part	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	4404716	\N	\N	EFO	6	EFO	material entity	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009029	"A microsporophyll bearing one or more microsporangia." []	5420228	\N	\N	EFO	7	EFO	experimental factor	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009030	\N	\N	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	79434	\N	\N	EFO	0	EFO	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009027	\N	\N	"A structure upon which (or in the axil of which) one or more megasporangia are borne; in flowering plants, a carpel." [APweb:Glossary]	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	195826	\N	TraitNet	EFO	0	EFO	megasporophyll	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009062	PO:0009030	\N	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	224638	\N	\N	EFO	1	EFO	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009062	PO:0009030	\N	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	224639	\N	\N	EFO	1	EFO	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009062	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	581532	\N	\N	EFO	2	EFO	flower	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009062	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	581533	\N	\N	EFO	2	EFO	flower	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009046	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	1165560	\N	\N	EFO	3	EFO	shoot	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000998	PO:0009046	\N	"" []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	1165561	\N	\N	EFO	3	EFO	plant reproductive system structure	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0001948	PO:0009046	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	1165562	\N	\N	EFO	3	EFO	shoot component	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009046	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	1165563	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	2049525	\N	\N	EFO	4	EFO	plant component	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	2049526	\N	\N	EFO	4	EFO	plant anatomical entity	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000998	\N	"" []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	2049527	\N	\N	EFO	4	EFO	plant component	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	2049528	\N	\N	EFO	4	EFO	plant anatomical entity	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0001948	\N	"" []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	2049529	\N	\N	EFO	4	EFO	plant component	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	2049530	\N	\N	EFO	4	EFO	plant anatomical entity	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	2049531	\N	\N	EFO	4	EFO	plant component	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	2049532	\N	\N	EFO	4	EFO	plant anatomical entity	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	3199560	\N	\N	EFO	5	EFO	anatomy basic component	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	3199561	\N	\N	EFO	5	EFO	anatomy basic component	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	4404717	\N	\N	EFO	6	EFO	organism part	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	5420229	\N	\N	EFO	7	EFO	material entity	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009030	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	6154134	\N	\N	EFO	8	EFO	experimental factor	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009031	\N	\N	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	79435	\N	\N	EFO	0	EFO	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009060	\N	\N	"A collective phyllome structure (PO:0025023) that is composed of one or more sepals (PO:0009031), and comprises the outer whorl of non-reproductive floral organs (PO:0025395)." [POC:curators, POC:Laurel_Cooper]	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	195827	\N	reference,TraitNet	EFO	0	EFO	calyx	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0009031	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	224640	\N	\N	EFO	1	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009031	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	224641	\N	\N	EFO	1	EFO	flower	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	581534	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009046	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	581535	\N	\N	EFO	2	EFO	shoot	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000998	PO:0009046	\N	"" []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	581536	\N	\N	EFO	2	EFO	plant reproductive system structure	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0001948	PO:0009046	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	581537	\N	\N	EFO	2	EFO	shoot component	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009046	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	581538	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	1165564	\N	\N	EFO	3	EFO	plant component	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	1165565	\N	\N	EFO	3	EFO	plant anatomical entity	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000998	\N	"" []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	1165566	\N	\N	EFO	3	EFO	plant component	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	1165567	\N	\N	EFO	3	EFO	plant anatomical entity	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0001948	\N	"" []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	1165568	\N	\N	EFO	3	EFO	plant component	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	1165569	\N	\N	EFO	3	EFO	plant anatomical entity	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	1165570	\N	\N	EFO	3	EFO	plant component	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	1165571	\N	\N	EFO	3	EFO	plant anatomical entity	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	2049533	\N	\N	EFO	4	EFO	anatomy basic component	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	2049534	\N	\N	EFO	4	EFO	anatomy basic component	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	3199562	\N	\N	EFO	5	EFO	organism part	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	4404718	\N	\N	EFO	6	EFO	material entity	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009031	"A phyllome (PO:0006001) that is usually green, and is part of the calyx (PO:0009060)." []	5420230	\N	\N	EFO	7	EFO	experimental factor	sepal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009032	\N	\N	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	79436	\N	\N	EFO	0	EFO	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009059	\N	\N	"A collective phyllome structure (PO:0025023) that is composed of one or more petals (PO:0009032), comprising the inner whorl of non-reproductive floral organs (PO:0025395) and surrounds the androecium (PO:0009061) and the gynoecium (PO:0009062)." [POC:curators, POC:Laurel_Cooper]	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	195828	\N	reference,TraitNet	EFO	0	EFO	corolla	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0009032	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	224642	\N	\N	EFO	1	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009032	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	224643	\N	\N	EFO	1	EFO	flower	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	581539	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009046	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	581540	\N	\N	EFO	2	EFO	shoot	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000998	PO:0009046	\N	"" []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	581541	\N	\N	EFO	2	EFO	plant reproductive system structure	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0001948	PO:0009046	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	581542	\N	\N	EFO	2	EFO	shoot component	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009046	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	581543	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	1165572	\N	\N	EFO	3	EFO	plant component	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	1165573	\N	\N	EFO	3	EFO	plant anatomical entity	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000998	\N	"" []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	1165574	\N	\N	EFO	3	EFO	plant component	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	1165575	\N	\N	EFO	3	EFO	plant anatomical entity	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0001948	\N	"" []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	1165576	\N	\N	EFO	3	EFO	plant component	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	1165577	\N	\N	EFO	3	EFO	plant anatomical entity	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	1165578	\N	\N	EFO	3	EFO	plant component	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	1165579	\N	\N	EFO	3	EFO	plant anatomical entity	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	2049535	\N	\N	EFO	4	EFO	anatomy basic component	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	2049536	\N	\N	EFO	4	EFO	anatomy basic component	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	3199563	\N	\N	EFO	5	EFO	organism part	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	4404719	\N	\N	EFO	6	EFO	material entity	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009032	"A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." []	5420231	\N	\N	EFO	7	EFO	experimental factor	petal {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009033	\N	\N	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	79437	\N	\N	EFO	0	EFO	tepal	tepal
PO:0025021	\N	\N	"A perianth (PO:0009058) consisting of one or more tepals (PO:0009033)." [POC:curators, POC:Laurel_Cooper]	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	195829	\N	\N	EFO	0	EFO	collective tepal structure	tepal
PO:0006001	PO:0009033	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	224644	\N	\N	EFO	1	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	tepal
PO:0009046	PO:0009033	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	224645	\N	\N	EFO	1	EFO	flower	tepal
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	581544	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	tepal
EFO:0000992	PO:0009046	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	581545	\N	\N	EFO	2	EFO	shoot	tepal
EFO:0000998	PO:0009046	\N	"" []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	581546	\N	\N	EFO	2	EFO	plant reproductive system structure	tepal
EFO:0001948	PO:0009046	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	581547	\N	\N	EFO	2	EFO	shoot component	tepal
PO:0009006	PO:0009046	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	581548	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	tepal
EFO:0000789	EFO:0000992	\N	"" []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	1165580	\N	\N	EFO	3	EFO	plant component	tepal
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	1165581	\N	\N	EFO	3	EFO	plant anatomical entity	tepal
EFO:0000789	EFO:0000998	\N	"" []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	1165582	\N	\N	EFO	3	EFO	plant component	tepal
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	1165583	\N	\N	EFO	3	EFO	plant anatomical entity	tepal
EFO:0000789	EFO:0001948	\N	"" []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	1165584	\N	\N	EFO	3	EFO	plant component	tepal
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	1165585	\N	\N	EFO	3	EFO	plant anatomical entity	tepal
EFO:0000789	PO:0009006	\N	"" []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	1165586	\N	\N	EFO	3	EFO	plant component	tepal
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	1165587	\N	\N	EFO	3	EFO	plant anatomical entity	tepal
EFO:0000786	EFO:0000789	\N	"" []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	2049537	\N	\N	EFO	4	EFO	anatomy basic component	tepal
EFO:0000786	PO:0025131	\N	"" []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	2049538	\N	\N	EFO	4	EFO	anatomy basic component	tepal
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	3199564	\N	\N	EFO	5	EFO	organism part	tepal
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	4404720	\N	\N	EFO	6	EFO	material entity	tepal
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009033	"A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies." []	5420232	\N	\N	EFO	7	EFO	experimental factor	tepal
PO:0009046	\N	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	79438	\N	\N	EFO	0	EFO	flower	flower
PO:0025082	\N	\N	"A shoot system (PO:0009006) in the sporophytic phase that has as part at least one sporangium (PO:0025094)." [POC:curators]	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	195830	\N	TraitNet	EFO	0	EFO	reproductive shoot system	flower
EFO:0000992	PO:0009046	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	224646	\N	\N	EFO	1	EFO	shoot	flower
EFO:0000998	PO:0009046	\N	"" []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	224647	\N	\N	EFO	1	EFO	plant reproductive system structure	flower
EFO:0001948	PO:0009046	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	224648	\N	\N	EFO	1	EFO	shoot component	flower
PO:0009006	PO:0009046	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	224649	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flower
EFO:0000789	EFO:0000992	\N	"" []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	581549	\N	\N	EFO	2	EFO	plant component	flower
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	581550	\N	\N	EFO	2	EFO	plant anatomical entity	flower
EFO:0000789	EFO:0000998	\N	"" []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	581551	\N	\N	EFO	2	EFO	plant component	flower
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	581552	\N	\N	EFO	2	EFO	plant anatomical entity	flower
EFO:0000789	EFO:0001948	\N	"" []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	581553	\N	\N	EFO	2	EFO	plant component	flower
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	581554	\N	\N	EFO	2	EFO	plant anatomical entity	flower
EFO:0000789	PO:0009006	\N	"" []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	581555	\N	\N	EFO	2	EFO	plant component	flower
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	581556	\N	\N	EFO	2	EFO	plant anatomical entity	flower
EFO:0000786	EFO:0000789	\N	"" []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	1165588	\N	\N	EFO	3	EFO	anatomy basic component	flower
EFO:0000786	PO:0025131	\N	"" []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	1165589	\N	\N	EFO	3	EFO	anatomy basic component	flower
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	2049539	\N	\N	EFO	4	EFO	organism part	flower
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	3199565	\N	\N	EFO	5	EFO	material entity	flower
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009046	"The reproductive structure of the anthophyta or angiosperms." []	4404721	\N	\N	EFO	6	EFO	experimental factor	flower
PO:0009047	\N	\N	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	79439	\N	\N	EFO	0	EFO	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0009047	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	224650	\N	\N	EFO	1	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0009047	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	224651	\N	\N	EFO	1	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0025029	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	581557	\N	\N	EFO	2	EFO	shoot	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	581558	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	581559	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	1165590	\N	\N	EFO	3	EFO	plant component	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	1165591	\N	\N	EFO	3	EFO	plant anatomical entity	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	1165592	\N	\N	EFO	3	EFO	plant component	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	1165593	\N	\N	EFO	3	EFO	plant anatomical entity	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	2049540	\N	\N	EFO	4	EFO	anatomy basic component	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	2049541	\N	\N	EFO	4	EFO	anatomy basic component	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	3199566	\N	\N	EFO	5	EFO	organism part	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	4404722	\N	\N	EFO	6	EFO	material entity	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009047	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	5420233	\N	\N	EFO	7	EFO	experimental factor	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	\N	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	79440	\N	\N	EFO	0	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025082	\N	\N	"A shoot system (PO:0009006) in the sporophytic phase that has as part at least one sporangium (PO:0025094)." [POC:curators]	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	195831	\N	TraitNet	EFO	0	EFO	reproductive shoot system	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009049	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	224652	\N	\N	EFO	1	EFO	shoot	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009049	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	224653	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	581560	\N	\N	EFO	2	EFO	plant component	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	581561	\N	\N	EFO	2	EFO	plant anatomical entity	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	581562	\N	\N	EFO	2	EFO	plant component	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	581563	\N	\N	EFO	2	EFO	plant anatomical entity	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	1165594	\N	\N	EFO	3	EFO	anatomy basic component	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	1165595	\N	\N	EFO	3	EFO	anatomy basic component	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	2049542	\N	\N	EFO	4	EFO	organism part	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	3199567	\N	\N	EFO	5	EFO	material entity	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009049	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	4404723	\N	\N	EFO	6	EFO	experimental factor	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009056	\N	\N	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	79442	\N	\N	EFO	0	EFO	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009035	\N	\N	"A multicellular glandular structure secreting a liquid containing organic substances especially sugars." [GR:Pankaj_Jaiswal]	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	195834	\N	reference,TraitNet	EFO	0	EFO	nectary	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009056	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	224654	\N	\N	EFO	1	EFO	flower	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009056	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	224655	\N	\N	EFO	1	EFO	flower	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009046	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	581564	\N	\N	EFO	2	EFO	shoot	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000998	PO:0009046	\N	"" []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	581565	\N	\N	EFO	2	EFO	plant reproductive system structure	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0001948	PO:0009046	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	581566	\N	\N	EFO	2	EFO	shoot component	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009046	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	581567	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	1165596	\N	\N	EFO	3	EFO	plant component	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	1165597	\N	\N	EFO	3	EFO	plant anatomical entity	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000998	\N	"" []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	1165598	\N	\N	EFO	3	EFO	plant component	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	1165599	\N	\N	EFO	3	EFO	plant anatomical entity	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0001948	\N	"" []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	1165600	\N	\N	EFO	3	EFO	plant component	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	1165601	\N	\N	EFO	3	EFO	plant anatomical entity	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	1165602	\N	\N	EFO	3	EFO	plant component	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	1165603	\N	\N	EFO	3	EFO	plant anatomical entity	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	2049543	\N	\N	EFO	4	EFO	anatomy basic component	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	2049544	\N	\N	EFO	4	EFO	anatomy basic component	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	3199568	\N	\N	EFO	5	EFO	organism part	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	4404724	\N	\N	EFO	6	EFO	material entity	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009056	"A multicellular glandular structure found in the flower secreting a liquid containing organic substances especially sugars." []	5420234	\N	\N	EFO	7	EFO	experimental factor	flower nectary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009062	\N	\N	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	79443	\N	\N	EFO	0	EFO	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025023	\N	\N	"A collective plant organ structure (PO:0025007) that consists of two or more phyllomes (PO:0006001) originating from the same node or from one or more adjacent nodes with compressed shoot internodes (PO:0005005)." [POC:curators]	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	195835	\N	TraitNet	EFO	0	EFO	collective phyllome structure	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009062	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	224656	\N	\N	EFO	1	EFO	flower	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009062	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	224657	\N	\N	EFO	1	EFO	flower	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009046	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	581568	\N	\N	EFO	2	EFO	shoot	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000998	PO:0009046	\N	"" []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	581569	\N	\N	EFO	2	EFO	plant reproductive system structure	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0001948	PO:0009046	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	581570	\N	\N	EFO	2	EFO	shoot component	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009046	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	581571	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	1165604	\N	\N	EFO	3	EFO	plant component	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	1165605	\N	\N	EFO	3	EFO	plant anatomical entity	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000998	\N	"" []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	1165606	\N	\N	EFO	3	EFO	plant component	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	1165607	\N	\N	EFO	3	EFO	plant anatomical entity	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0001948	\N	"" []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	1165608	\N	\N	EFO	3	EFO	plant component	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	1165609	\N	\N	EFO	3	EFO	plant anatomical entity	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	1165610	\N	\N	EFO	3	EFO	plant component	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	1165611	\N	\N	EFO	3	EFO	plant anatomical entity	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	2049545	\N	\N	EFO	4	EFO	anatomy basic component	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	2049546	\N	\N	EFO	4	EFO	anatomy basic component	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	3199569	\N	\N	EFO	5	EFO	organism part	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	4404725	\N	\N	EFO	6	EFO	material entity	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009062	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	5420235	\N	\N	EFO	7	EFO	experimental factor	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009064	\N	\N	"A cardinal organ part (PO:0025001) that is the region at the distal end of either a peduncle or a pedicel where the floral appendages (e.g.: sepals, petals, stamens and pistils) are attached." []	PO:0009064	"A cardinal organ part (PO:0025001) that is the region at the distal end of either a peduncle or a pedicel where the floral appendages (e.g.: sepals, petals, stamens and pistils) are attached." []	79444	\N	\N	EFO	0	EFO	receptacle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	receptacle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025001	PO:0009064	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0009064	"A cardinal organ part (PO:0025001) that is the region at the distal end of either a peduncle or a pedicel where the floral appendages (e.g.: sepals, petals, stamens and pistils) are attached." []	224658	\N	\N	EFO	1	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	receptacle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025001	PO:0009064	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0009064	"A cardinal organ part (PO:0025001) that is the region at the distal end of either a peduncle or a pedicel where the floral appendages (e.g.: sepals, petals, stamens and pistils) are attached." []	224659	\N	\N	EFO	1	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	receptacle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0025001	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009064	"A cardinal organ part (PO:0025001) that is the region at the distal end of either a peduncle or a pedicel where the floral appendages (e.g.: sepals, petals, stamens and pistils) are attached." []	581572	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	receptacle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0009064	"A cardinal organ part (PO:0025001) that is the region at the distal end of either a peduncle or a pedicel where the floral appendages (e.g.: sepals, petals, stamens and pistils) are attached." []	1165612	\N	\N	EFO	3	EFO	plant component	receptacle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009064	"A cardinal organ part (PO:0025001) that is the region at the distal end of either a peduncle or a pedicel where the floral appendages (e.g.: sepals, petals, stamens and pistils) are attached." []	1165613	\N	\N	EFO	3	EFO	plant anatomical entity	receptacle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009064	"A cardinal organ part (PO:0025001) that is the region at the distal end of either a peduncle or a pedicel where the floral appendages (e.g.: sepals, petals, stamens and pistils) are attached." []	2049547	\N	\N	EFO	4	EFO	anatomy basic component	receptacle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009064	"A cardinal organ part (PO:0025001) that is the region at the distal end of either a peduncle or a pedicel where the floral appendages (e.g.: sepals, petals, stamens and pistils) are attached." []	2049548	\N	\N	EFO	4	EFO	anatomy basic component	receptacle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009064	"A cardinal organ part (PO:0025001) that is the region at the distal end of either a peduncle or a pedicel where the floral appendages (e.g.: sepals, petals, stamens and pistils) are attached." []	3199570	\N	\N	EFO	5	EFO	organism part	receptacle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009064	"A cardinal organ part (PO:0025001) that is the region at the distal end of either a peduncle or a pedicel where the floral appendages (e.g.: sepals, petals, stamens and pistils) are attached." []	4404726	\N	\N	EFO	6	EFO	material entity	receptacle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009064	"A cardinal organ part (PO:0025001) that is the region at the distal end of either a peduncle or a pedicel where the floral appendages (e.g.: sepals, petals, stamens and pistils) are attached." []	5420236	\N	\N	EFO	7	EFO	experimental factor	receptacle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009066	\N	\N	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	79445	\N	\N	EFO	0	EFO	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025007	\N	\N	"A collective plant structure (PO:0025497) that is a proper part of a whole plant (PO:0000003), and is composed of two or more adjacent plant organs (PO:0009008) and the associated portions of plant tissue (PO:0009007)." [POC:curators]	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	195836	\N	TraitNet	EFO	0	EFO	collective plant organ structure	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009029	PO:0009066	\N	"A microsporophyll bearing one or more microsporangia." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	224660	\N	\N	EFO	1	EFO	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009029	PO:0009066	\N	"A microsporophyll bearing one or more microsporangia." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	224661	\N	\N	EFO	1	EFO	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009029	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	581573	\N	\N	EFO	2	EFO	flower	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009046	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	1165614	\N	\N	EFO	3	EFO	shoot	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000998	PO:0009046	\N	"" []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	1165615	\N	\N	EFO	3	EFO	plant reproductive system structure	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0001948	PO:0009046	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	1165616	\N	\N	EFO	3	EFO	shoot component	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009046	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	1165617	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	2049549	\N	\N	EFO	4	EFO	plant component	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	2049550	\N	\N	EFO	4	EFO	plant anatomical entity	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000998	\N	"" []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	2049551	\N	\N	EFO	4	EFO	plant component	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	2049552	\N	\N	EFO	4	EFO	plant anatomical entity	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0001948	\N	"" []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	2049553	\N	\N	EFO	4	EFO	plant component	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	2049554	\N	\N	EFO	4	EFO	plant anatomical entity	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	2049555	\N	\N	EFO	4	EFO	plant component	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	2049556	\N	\N	EFO	4	EFO	plant anatomical entity	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	3199571	\N	\N	EFO	5	EFO	anatomy basic component	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	3199572	\N	\N	EFO	5	EFO	anatomy basic component	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	4404727	\N	\N	EFO	6	EFO	organism part	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	5420237	\N	\N	EFO	7	EFO	material entity	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009066	"A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)." []	6154135	\N	\N	EFO	8	EFO	experimental factor	anther {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009067	\N	\N	"A stalk that is part of a stamen" []	PO:0009067	"A stalk that is part of a stamen" []	79446	\N	\N	EFO	0	EFO	filament	filament
PO:0025066	\N	\N	"A cardinal organ part (PO:0025001) that is elongated and sub-cylindrical to cylindrical and supports another cardinal organ part." [POC:curators]	PO:0009067	"A stalk that is part of a stamen" []	195837	\N	TraitNet	EFO	0	EFO	stalk	filament
PO:0009029	PO:0009067	\N	"A microsporophyll bearing one or more microsporangia." []	PO:0009067	"A stalk that is part of a stamen" []	224662	\N	\N	EFO	1	EFO	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	filament
PO:0009029	PO:0009067	\N	"A microsporophyll bearing one or more microsporangia." []	PO:0009067	"A stalk that is part of a stamen" []	224663	\N	\N	EFO	1	EFO	stamen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	filament
PO:0009046	PO:0009029	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009067	"A stalk that is part of a stamen" []	581574	\N	\N	EFO	2	EFO	flower	filament
EFO:0000992	PO:0009046	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009067	"A stalk that is part of a stamen" []	1165618	\N	\N	EFO	3	EFO	shoot	filament
EFO:0000998	PO:0009046	\N	"" []	PO:0009067	"A stalk that is part of a stamen" []	1165619	\N	\N	EFO	3	EFO	plant reproductive system structure	filament
EFO:0001948	PO:0009046	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0009067	"A stalk that is part of a stamen" []	1165620	\N	\N	EFO	3	EFO	shoot component	filament
PO:0009006	PO:0009046	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009067	"A stalk that is part of a stamen" []	1165621	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	filament
EFO:0000789	EFO:0000992	\N	"" []	PO:0009067	"A stalk that is part of a stamen" []	2049557	\N	\N	EFO	4	EFO	plant component	filament
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009067	"A stalk that is part of a stamen" []	2049558	\N	\N	EFO	4	EFO	plant anatomical entity	filament
EFO:0000789	EFO:0000998	\N	"" []	PO:0009067	"A stalk that is part of a stamen" []	2049559	\N	\N	EFO	4	EFO	plant component	filament
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009067	"A stalk that is part of a stamen" []	2049560	\N	\N	EFO	4	EFO	plant anatomical entity	filament
EFO:0000789	EFO:0001948	\N	"" []	PO:0009067	"A stalk that is part of a stamen" []	2049561	\N	\N	EFO	4	EFO	plant component	filament
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0009067	"A stalk that is part of a stamen" []	2049562	\N	\N	EFO	4	EFO	plant anatomical entity	filament
EFO:0000789	PO:0009006	\N	"" []	PO:0009067	"A stalk that is part of a stamen" []	2049563	\N	\N	EFO	4	EFO	plant component	filament
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009067	"A stalk that is part of a stamen" []	2049564	\N	\N	EFO	4	EFO	plant anatomical entity	filament
EFO:0000786	EFO:0000789	\N	"" []	PO:0009067	"A stalk that is part of a stamen" []	3199573	\N	\N	EFO	5	EFO	anatomy basic component	filament
EFO:0000786	PO:0025131	\N	"" []	PO:0009067	"A stalk that is part of a stamen" []	3199574	\N	\N	EFO	5	EFO	anatomy basic component	filament
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009067	"A stalk that is part of a stamen" []	4404728	\N	\N	EFO	6	EFO	organism part	filament
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009067	"A stalk that is part of a stamen" []	5420238	\N	\N	EFO	7	EFO	material entity	filament
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009067	"A stalk that is part of a stamen" []	6154136	\N	\N	EFO	8	EFO	experimental factor	filament
PO:0009072	\N	\N	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	79447	\N	\N	EFO	0	EFO	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009072	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	224664	\N	\N	EFO	1	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009062	PO:0009072	\N	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	224665	\N	\N	EFO	1	EFO	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009062	PO:0009072	\N	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	224666	\N	\N	EFO	1	EFO	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	581575	\N	\N	EFO	2	EFO	plant anatomical entity	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009062	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	581576	\N	\N	EFO	2	EFO	flower	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009062	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	581577	\N	\N	EFO	2	EFO	flower	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009046	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	1165622	\N	\N	EFO	3	EFO	shoot	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000998	PO:0009046	\N	"" []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	1165623	\N	\N	EFO	3	EFO	plant reproductive system structure	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0001948	PO:0009046	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	1165624	\N	\N	EFO	3	EFO	shoot component	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009046	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	1165625	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	2049565	\N	\N	EFO	4	EFO	plant component	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	2049566	\N	\N	EFO	4	EFO	plant anatomical entity	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000998	\N	"" []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	2049567	\N	\N	EFO	4	EFO	plant component	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	2049568	\N	\N	EFO	4	EFO	plant anatomical entity	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0001948	\N	"" []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	2049569	\N	\N	EFO	4	EFO	plant component	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	2049570	\N	\N	EFO	4	EFO	plant anatomical entity	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	2049571	\N	\N	EFO	4	EFO	plant component	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	2049572	\N	\N	EFO	4	EFO	plant anatomical entity	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	3199575	\N	\N	EFO	5	EFO	anatomy basic component	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	3199576	\N	\N	EFO	5	EFO	anatomy basic component	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	4404729	\N	\N	EFO	6	EFO	organism part	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	5420239	\N	\N	EFO	7	EFO	material entity	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009072	"A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003)." []	6154137	\N	\N	EFO	8	EFO	experimental factor	plant ovary {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009073	\N	\N	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	79448	\N	\N	EFO	0	EFO	stigma	stigma
EFO:0000998	PO:0009073	\N	"" []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	224667	\N	\N	EFO	1	EFO	plant reproductive system structure	stigma
PO:0009030	PO:0009073	\N	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	224668	\N	\N	EFO	1	EFO	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stigma
PO:0025001	PO:0009073	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	224669	\N	\N	EFO	1	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stigma
EFO:0000789	EFO:0000998	\N	"" []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	581578	\N	\N	EFO	2	EFO	plant component	stigma
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	581579	\N	\N	EFO	2	EFO	plant anatomical entity	stigma
PO:0009062	PO:0009030	\N	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	581580	\N	\N	EFO	2	EFO	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stigma
EFO:0000786	EFO:0000789	\N	"" []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	1165626	\N	\N	EFO	3	EFO	anatomy basic component	stigma
EFO:0000786	PO:0025131	\N	"" []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	1165627	\N	\N	EFO	3	EFO	anatomy basic component	stigma
PO:0009046	PO:0009062	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	1165628	\N	\N	EFO	3	EFO	flower	stigma
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	2049573	\N	\N	EFO	4	EFO	organism part	stigma
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	3199577	\N	\N	EFO	5	EFO	material entity	stigma
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009073	"The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate." []	4404730	\N	\N	EFO	6	EFO	experimental factor	stigma
PO:0009074	\N	\N	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	79449	\N	\N	EFO	0	EFO	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009030	PO:0009074	\N	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	224670	\N	\N	EFO	1	EFO	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009030	PO:0009074	\N	"A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s)." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	224671	\N	\N	EFO	1	EFO	carpel {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025001	PO:0009074	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	224672	\N	\N	EFO	1	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009062	PO:0009030	\N	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	581581	\N	\N	EFO	2	EFO	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009062	PO:0009030	\N	"A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	581582	\N	\N	EFO	2	EFO	gynoecium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009062	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	1165629	\N	\N	EFO	3	EFO	flower	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009046	PO:0009062	\N	"The reproductive structure of the anthophyta or angiosperms." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	1165630	\N	\N	EFO	3	EFO	flower	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009046	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	2049574	\N	\N	EFO	4	EFO	shoot	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000998	PO:0009046	\N	"" []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	2049575	\N	\N	EFO	4	EFO	plant reproductive system structure	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0001948	PO:0009046	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	2049576	\N	\N	EFO	4	EFO	shoot component	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009046	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	2049577	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	3199578	\N	\N	EFO	5	EFO	plant component	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	3199579	\N	\N	EFO	5	EFO	plant anatomical entity	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000998	\N	"" []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	3199580	\N	\N	EFO	5	EFO	plant component	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	3199581	\N	\N	EFO	5	EFO	plant anatomical entity	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0001948	\N	"" []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	3199582	\N	\N	EFO	5	EFO	plant component	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	3199583	\N	\N	EFO	5	EFO	plant anatomical entity	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	3199584	\N	\N	EFO	5	EFO	plant component	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	3199585	\N	\N	EFO	5	EFO	plant anatomical entity	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	4404731	\N	\N	EFO	6	EFO	anatomy basic component	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	4404732	\N	\N	EFO	6	EFO	anatomy basic component	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	5420240	\N	\N	EFO	7	EFO	organism part	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	6154138	\N	\N	EFO	8	EFO	material entity	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009074	"An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows." []	6634779	\N	\N	EFO	9	EFO	experimental factor	style {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009088	\N	\N	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	79451	\N	\N	EFO	0	EFO	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009088	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	224673	\N	\N	EFO	1	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009010	PO:0009088	\N	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	224674	\N	\N	EFO	1	EFO	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009010	PO:0009088	\N	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	224675	\N	\N	EFO	1	EFO	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	581583	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009010	\N	"" []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	581584	\N	\N	EFO	2	EFO	plant component	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009010	\N	"An anatomical entity that is or was part of a plant." []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	581585	\N	\N	EFO	2	EFO	plant anatomical entity	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	1165631	\N	\N	EFO	3	EFO	plant anatomical entity	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	1165632	\N	\N	EFO	3	EFO	anatomy basic component	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	1165633	\N	\N	EFO	3	EFO	anatomy basic component	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	2049578	\N	\N	EFO	4	EFO	organism part	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	3199586	\N	\N	EFO	5	EFO	material entity	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009088	"A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue." []	4404733	\N	\N	EFO	6	EFO	experimental factor	seed coat {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009089	\N	\N	"A maximal portion of nutritive plant tissue in a seed." []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	79452	\N	\N	EFO	0	EFO	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009089	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	224676	\N	\N	EFO	1	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009010	PO:0009089	\N	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	224677	\N	\N	EFO	1	EFO	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009010	PO:0009089	\N	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	224678	\N	\N	EFO	1	EFO	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	581586	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009010	\N	"" []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	581587	\N	\N	EFO	2	EFO	plant component	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009010	\N	"An anatomical entity that is or was part of a plant." []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	581588	\N	\N	EFO	2	EFO	plant anatomical entity	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	1165634	\N	\N	EFO	3	EFO	plant anatomical entity	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	1165635	\N	\N	EFO	3	EFO	anatomy basic component	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	1165636	\N	\N	EFO	3	EFO	anatomy basic component	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	2049579	\N	\N	EFO	4	EFO	organism part	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	3199587	\N	\N	EFO	5	EFO	material entity	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009089	"A maximal portion of nutritive plant tissue in a seed." []	4404734	\N	\N	EFO	6	EFO	experimental factor	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009109	\N	\N	"The meristem which gives rise to the female inflorescence or ear in maize." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	79453	\N	\N	EFO	0	EFO	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000230	PO:0009109	\N	"A meristem that gives rise to an inflorescence." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	224679	\N	\N	EFO	1	EFO	inflorescence meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020136	PO:0009109	\N	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	224680	\N	\N	EFO	1	EFO	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020136	PO:0009109	\N	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	224681	\N	\N	EFO	1	EFO	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009013	PO:0000230	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	581589	\N	\N	EFO	2	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0000230	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	581590	\N	\N	EFO	2	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025598	PO:0020136	\N	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	581591	\N	\N	EFO	2	EFO	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025598	PO:0020136	\N	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	581592	\N	\N	EFO	2	EFO	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	1165637	\N	\N	EFO	3	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0025598	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	1165638	\N	\N	EFO	3	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0025598	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	1165639	\N	\N	EFO	3	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	2049580	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009049	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	2049581	\N	\N	EFO	4	EFO	shoot	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009049	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	2049582	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	3199588	\N	\N	EFO	5	EFO	plant anatomical entity	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	3199589	\N	\N	EFO	5	EFO	plant component	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	3199590	\N	\N	EFO	5	EFO	plant anatomical entity	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	3199591	\N	\N	EFO	5	EFO	plant component	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	3199592	\N	\N	EFO	5	EFO	plant anatomical entity	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	4404735	\N	\N	EFO	6	EFO	anatomy basic component	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	4404736	\N	\N	EFO	6	EFO	anatomy basic component	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	5420241	\N	\N	EFO	7	EFO	organism part	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	6154139	\N	\N	EFO	8	EFO	material entity	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0009109	"The meristem which gives rise to the female inflorescence or ear in maize." []	6634780	\N	\N	EFO	9	EFO	experimental factor	ear meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020003	\N	\N	"A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." []	PO:0020003	"A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." []	79454	\N	\N	EFO	0	EFO	plant ovule	plant ovule
PO:0009008	\N	\N	"A multi-tissue plant structure (PO:0025496) that is a functional unit, is a proper part of a whole plant (PO:0000003), and includes portions of plant tissue (PO:0009007) of at least two different types that derive from a common developmental path." [POC:curators]	PO:0020003	"A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." []	195842	\N	TraitNet	EFO	0	EFO	plant organ	plant ovule
EFO:0000789	PO:0020003	\N	"" []	PO:0020003	"A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." []	224682	\N	\N	EFO	1	EFO	plant component	plant ovule
PO:0025131	PO:0020003	\N	"An anatomical entity that is or was part of a plant." []	PO:0020003	"A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." []	224683	\N	\N	EFO	1	EFO	plant anatomical entity	plant ovule
EFO:0000786	EFO:0000789	\N	"" []	PO:0020003	"A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." []	581593	\N	\N	EFO	2	EFO	anatomy basic component	plant ovule
EFO:0000786	PO:0025131	\N	"" []	PO:0020003	"A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." []	581594	\N	\N	EFO	2	EFO	anatomy basic component	plant ovule
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020003	"A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." []	1165640	\N	\N	EFO	3	EFO	organism part	plant ovule
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020003	"A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." []	2049583	\N	\N	EFO	4	EFO	material entity	plant ovule
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020003	"A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." []	3199593	\N	\N	EFO	5	EFO	experimental factor	plant ovule
PO:0020020	\N	\N	"A megasporangium (PO:0025201) in a seed plant, composed of fleshy subepidermal tissue that is part of a plant ovule (PO:0020003) and surrounds a megasporocyte (PO:0000431)." []	PO:0020020	"A megasporangium (PO:0025201) in a seed plant, composed of fleshy subepidermal tissue that is part of a plant ovule (PO:0020003) and surrounds a megasporocyte (PO:0000431)." []	79455	\N	\N	EFO	0	EFO	nucellus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	nucellus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025201	\N	\N	"A sporangium in which megaspores are produced." [ISBN:0716710072]	PO:0020020	"A megasporangium (PO:0025201) in a seed plant, composed of fleshy subepidermal tissue that is part of a plant ovule (PO:0020003) and surrounds a megasporocyte (PO:0000431)." []	195843	\N	\N	EFO	0	EFO	megasporangium	nucellus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020003	PO:0020020	\N	"A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." []	PO:0020020	"A megasporangium (PO:0025201) in a seed plant, composed of fleshy subepidermal tissue that is part of a plant ovule (PO:0020003) and surrounds a megasporocyte (PO:0000431)." []	224684	\N	\N	EFO	1	EFO	plant ovule	nucellus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020003	PO:0020020	\N	"A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." []	PO:0020020	"A megasporangium (PO:0025201) in a seed plant, composed of fleshy subepidermal tissue that is part of a plant ovule (PO:0020003) and surrounds a megasporocyte (PO:0000431)." []	224685	\N	\N	EFO	1	EFO	plant ovule	nucellus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0020003	\N	"" []	PO:0020020	"A megasporangium (PO:0025201) in a seed plant, composed of fleshy subepidermal tissue that is part of a plant ovule (PO:0020003) and surrounds a megasporocyte (PO:0000431)." []	581595	\N	\N	EFO	2	EFO	plant component	nucellus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0020003	\N	"An anatomical entity that is or was part of a plant." []	PO:0020020	"A megasporangium (PO:0025201) in a seed plant, composed of fleshy subepidermal tissue that is part of a plant ovule (PO:0020003) and surrounds a megasporocyte (PO:0000431)." []	581596	\N	\N	EFO	2	EFO	plant anatomical entity	nucellus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0020020	"A megasporangium (PO:0025201) in a seed plant, composed of fleshy subepidermal tissue that is part of a plant ovule (PO:0020003) and surrounds a megasporocyte (PO:0000431)." []	1165641	\N	\N	EFO	3	EFO	anatomy basic component	nucellus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0020020	"A megasporangium (PO:0025201) in a seed plant, composed of fleshy subepidermal tissue that is part of a plant ovule (PO:0020003) and surrounds a megasporocyte (PO:0000431)." []	1165642	\N	\N	EFO	3	EFO	anatomy basic component	nucellus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020020	"A megasporangium (PO:0025201) in a seed plant, composed of fleshy subepidermal tissue that is part of a plant ovule (PO:0020003) and surrounds a megasporocyte (PO:0000431)." []	2049584	\N	\N	EFO	4	EFO	organism part	nucellus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020020	"A megasporangium (PO:0025201) in a seed plant, composed of fleshy subepidermal tissue that is part of a plant ovule (PO:0020003) and surrounds a megasporocyte (PO:0000431)." []	3199594	\N	\N	EFO	5	EFO	material entity	nucellus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020020	"A megasporangium (PO:0025201) in a seed plant, composed of fleshy subepidermal tissue that is part of a plant ovule (PO:0020003) and surrounds a megasporocyte (PO:0000431)." []	4404737	\N	\N	EFO	6	EFO	experimental factor	nucellus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020030	\N	\N	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	79456	\N	\N	EFO	0	EFO	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009025	PO:0020030	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	224686	\N	\N	EFO	1	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009025	PO:0020030	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	224687	\N	\N	EFO	1	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	581597	\N	\N	EFO	2	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	581598	\N	\N	EFO	2	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	1165643	\N	\N	EFO	3	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	1165644	\N	\N	EFO	3	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	2049585	\N	\N	EFO	4	EFO	shoot	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	2049586	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	2049587	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	3199595	\N	\N	EFO	5	EFO	plant component	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	3199596	\N	\N	EFO	5	EFO	plant anatomical entity	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	3199597	\N	\N	EFO	5	EFO	plant component	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	3199598	\N	\N	EFO	5	EFO	plant anatomical entity	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	4404738	\N	\N	EFO	6	EFO	anatomy basic component	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	4404739	\N	\N	EFO	6	EFO	anatomy basic component	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	5420242	\N	\N	EFO	7	EFO	organism part	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	6154140	\N	\N	EFO	8	EFO	material entity	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020030	"A vascular leaf (PO:0009025) formed at the first shoot node (PO:0005004) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	6634781	\N	\N	EFO	9	EFO	experimental factor	cotyledon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020031	\N	\N	"An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	PO:0020031	"An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	79457	\N	\N	EFO	0	EFO	radicle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	radicle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000045	PO:0020031	\N	"A root (PO:0009005) that is initiated in a developing plant embryo (PO:0009009)." []	PO:0020031	"An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	224688	\N	\N	EFO	1	EFO	embryo root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	radicle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0020031	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0020031	"An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	224689	\N	\N	EFO	1	EFO	root	radicle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0000045	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0020031	"An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	581599	\N	\N	EFO	2	EFO	root	radicle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009005	\N	"" []	PO:0020031	"An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	581600	\N	\N	EFO	2	EFO	plant component	radicle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0020031	"An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	581601	\N	\N	EFO	2	EFO	plant anatomical entity	radicle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0020031	"An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	1165645	\N	\N	EFO	3	EFO	anatomy basic component	radicle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0020031	"An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	1165646	\N	\N	EFO	3	EFO	anatomy basic component	radicle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020031	"An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	2049588	\N	\N	EFO	4	EFO	organism part	radicle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020031	"An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	3199599	\N	\N	EFO	5	EFO	material entity	radicle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020031	"An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	4404740	\N	\N	EFO	6	EFO	experimental factor	radicle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020037	\N	\N	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	79458	\N	\N	EFO	0	EFO	mesocotyl	mesocotyl
PO:0020142	PO:0020037	\N	"A shoot internode that is part of a stem." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	224690	\N	\N	EFO	1	EFO	stem internode	mesocotyl
PO:0020142	PO:0020037	\N	"A shoot internode that is part of a stem." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	224691	\N	\N	EFO	1	EFO	stem internode	mesocotyl
PO:0009047	PO:0020142	\N	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	581602	\N	\N	EFO	2	EFO	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	mesocotyl
PO:0009047	PO:0020142	\N	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	581603	\N	\N	EFO	2	EFO	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	mesocotyl
PO:0025029	PO:0009047	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	1165647	\N	\N	EFO	3	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	mesocotyl
PO:0025029	PO:0009047	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	1165648	\N	\N	EFO	3	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	mesocotyl
EFO:0000992	PO:0025029	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	2049589	\N	\N	EFO	4	EFO	shoot	mesocotyl
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	2049590	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	mesocotyl
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	2049591	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	mesocotyl
EFO:0000789	EFO:0000992	\N	"" []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	3199600	\N	\N	EFO	5	EFO	plant component	mesocotyl
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	3199601	\N	\N	EFO	5	EFO	plant anatomical entity	mesocotyl
EFO:0000789	PO:0009006	\N	"" []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	3199602	\N	\N	EFO	5	EFO	plant component	mesocotyl
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	3199603	\N	\N	EFO	5	EFO	plant anatomical entity	mesocotyl
EFO:0000786	EFO:0000789	\N	"" []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	4404741	\N	\N	EFO	6	EFO	anatomy basic component	mesocotyl
EFO:0000786	PO:0025131	\N	"" []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	4404742	\N	\N	EFO	6	EFO	anatomy basic component	mesocotyl
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	5420243	\N	\N	EFO	7	EFO	organism part	mesocotyl
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	6154141	\N	\N	EFO	8	EFO	material entity	mesocotyl
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020037	"A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile.\\n\\n" []	6634782	\N	\N	EFO	9	EFO	experimental factor	mesocotyl
PO:0020039	\N	\N	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	79460	\N	\N	EFO	0	EFO	leaf lamina	leaf lamina
PO:0025396	\N	\N	"An organ lamina (PO:0025513) that is part of a phyllome (PO:0006001)." [POC:Ramona_Walls]	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	195847	\N	\N	EFO	0	EFO	phyllome lamina	leaf lamina
PO:0025034	PO:0020039	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	224692	\N	\N	EFO	1	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf lamina
PO:0025034	PO:0020039	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	224693	\N	\N	EFO	1	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf lamina
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	581604	\N	\N	EFO	2	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf lamina
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	581605	\N	\N	EFO	2	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf lamina
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	1165649	\N	\N	EFO	3	EFO	shoot	leaf lamina
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	1165650	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf lamina
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	1165651	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf lamina
EFO:0000789	EFO:0000992	\N	"" []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	2049592	\N	\N	EFO	4	EFO	plant component	leaf lamina
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	2049593	\N	\N	EFO	4	EFO	plant anatomical entity	leaf lamina
EFO:0000789	PO:0009006	\N	"" []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	2049594	\N	\N	EFO	4	EFO	plant component	leaf lamina
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	2049595	\N	\N	EFO	4	EFO	plant anatomical entity	leaf lamina
EFO:0000786	EFO:0000789	\N	"" []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	3199604	\N	\N	EFO	5	EFO	anatomy basic component	leaf lamina
EFO:0000786	PO:0025131	\N	"" []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	3199605	\N	\N	EFO	5	EFO	anatomy basic component	leaf lamina
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	4404743	\N	\N	EFO	6	EFO	organism part	leaf lamina
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	5420244	\N	\N	EFO	7	EFO	material entity	leaf lamina
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020039	"A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present." []	6154142	\N	\N	EFO	8	EFO	experimental factor	leaf lamina
PO:0020040	\N	\N	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	79461	\N	\N	EFO	0	EFO	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025140	\N	\N	"The basal part of a phyllome (PO:0006001), where it attaches to a shoot axis (PO:0025029)." [POC:Ramona_Walls]	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	195848	\N	\N	EFO	0	EFO	phyllome base	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0020040	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	224694	\N	\N	EFO	1	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0020040	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	224695	\N	\N	EFO	1	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	581606	\N	\N	EFO	2	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	581607	\N	\N	EFO	2	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	1165652	\N	\N	EFO	3	EFO	shoot	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	1165653	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	1165654	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	2049596	\N	\N	EFO	4	EFO	plant component	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	2049597	\N	\N	EFO	4	EFO	plant anatomical entity	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	2049598	\N	\N	EFO	4	EFO	plant component	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	2049599	\N	\N	EFO	4	EFO	plant anatomical entity	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	3199606	\N	\N	EFO	5	EFO	anatomy basic component	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	3199607	\N	\N	EFO	5	EFO	anatomy basic component	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	4404744	\N	\N	EFO	6	EFO	organism part	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	5420245	\N	\N	EFO	7	EFO	material entity	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020040	"A phyllome base (PO:0025140) that is part of a leaf (PO:0025034)." []	6154143	\N	\N	EFO	8	EFO	experimental factor	leaf base {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020099	\N	\N	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	79462	\N	\N	EFO	0	EFO	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025280	PO:0020099	\N	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	224696	\N	\N	EFO	1	EFO	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0020099	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	224697	\N	\N	EFO	1	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0020099	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	224698	\N	\N	EFO	1	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0025280	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	581608	\N	\N	EFO	2	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	581609	\N	\N	EFO	2	EFO	plant cell	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	581610	\N	\N	EFO	2	EFO	plant cell	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	1165655	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000324	PO:0009002	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	1165656	\N	\N	EFO	3	EFO	cell type	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009002	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	1165657	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	2049600	\N	\N	EFO	4	EFO	plant anatomical entity	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	2049601	\N	\N	EFO	4	EFO	material entity	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020099	"A native plant cell (PO:0025606) that is the larger cell of a microgametophyte (PO:0025280) in seed plants. It does not divide further and develops into a pollen tube cell (PO:0025195)." []	3199608	\N	\N	EFO	5	EFO	experimental factor	microgametophyte vegetative cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020100	\N	\N	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	79463	\N	\N	EFO	0	EFO	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020142	PO:0020100	\N	"A shoot internode that is part of a stem." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	224699	\N	\N	EFO	1	EFO	stem internode	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0020100	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	224700	\N	\N	EFO	1	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009047	PO:0020142	\N	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	581611	\N	\N	EFO	2	EFO	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0025029	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	581612	\N	\N	EFO	2	EFO	shoot	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	581613	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0009047	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	1165658	\N	\N	EFO	3	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	1165659	\N	\N	EFO	3	EFO	plant component	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	1165660	\N	\N	EFO	3	EFO	plant anatomical entity	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	1165661	\N	\N	EFO	3	EFO	plant component	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	1165662	\N	\N	EFO	3	EFO	plant anatomical entity	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	2049602	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	2049603	\N	\N	EFO	4	EFO	anatomy basic component	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	2049604	\N	\N	EFO	4	EFO	anatomy basic component	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	3199609	\N	\N	EFO	5	EFO	organism part	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	4404745	\N	\N	EFO	6	EFO	material entity	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020100	"A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003)." []	5420246	\N	\N	EFO	7	EFO	experimental factor	hypocotyl {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020103	\N	\N	"The last mature leaf before the inflorescence in a cereal crop plant." []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	79464	\N	\N	EFO	0	EFO	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006340	\N	\N	"A vascular leaf characterized by particular anatomical traits namely, wax and trichome distribution, presence or absence of epidermal cell types, cell wall shape and biochemistry." [GR:Pankaj_Jaiswal, MaizeGDB:lv]	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	195849	\N	Angiosperm,Arabidopsis,Citrus,Gymnosperms,Maize,Poaceae,Potato	EFO	0	EFO	adult vascular leaf	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009025	PO:0020103	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	224701	\N	\N	EFO	1	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	581614	\N	\N	EFO	2	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	1165663	\N	\N	EFO	3	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	2049605	\N	\N	EFO	4	EFO	shoot	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	2049606	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	3199610	\N	\N	EFO	5	EFO	plant component	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	3199611	\N	\N	EFO	5	EFO	plant anatomical entity	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	3199612	\N	\N	EFO	5	EFO	plant component	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	3199613	\N	\N	EFO	5	EFO	plant anatomical entity	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	4404746	\N	\N	EFO	6	EFO	anatomy basic component	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	4404747	\N	\N	EFO	6	EFO	anatomy basic component	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	5420247	\N	\N	EFO	7	EFO	organism part	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	6154144	\N	\N	EFO	8	EFO	material entity	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020103	"The last mature leaf before the inflorescence in a cereal crop plant." []	6634783	\N	\N	EFO	9	EFO	experimental factor	flag leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020104	\N	\N	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	79465	\N	\N	EFO	0	EFO	leaf sheath	leaf sheath
PO:0009025	PO:0020104	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	224702	\N	\N	EFO	1	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf sheath
PO:0009025	PO:0020104	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	224703	\N	\N	EFO	1	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf sheath
PO:0025001	PO:0020104	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	224704	\N	\N	EFO	1	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf sheath
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	581615	\N	\N	EFO	2	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf sheath
PO:0025034	PO:0009025	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	581616	\N	\N	EFO	2	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf sheath
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	1165664	\N	\N	EFO	3	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf sheath
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	1165665	\N	\N	EFO	3	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf sheath
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	2049607	\N	\N	EFO	4	EFO	shoot	leaf sheath
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	2049608	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf sheath
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	2049609	\N	\N	EFO	4	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf sheath
EFO:0000789	EFO:0000992	\N	"" []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	3199614	\N	\N	EFO	5	EFO	plant component	leaf sheath
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	3199615	\N	\N	EFO	5	EFO	plant anatomical entity	leaf sheath
EFO:0000789	PO:0009006	\N	"" []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	3199616	\N	\N	EFO	5	EFO	plant component	leaf sheath
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	3199617	\N	\N	EFO	5	EFO	plant anatomical entity	leaf sheath
EFO:0000786	EFO:0000789	\N	"" []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	4404748	\N	\N	EFO	6	EFO	anatomy basic component	leaf sheath
EFO:0000786	PO:0025131	\N	"" []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	4404749	\N	\N	EFO	6	EFO	anatomy basic component	leaf sheath
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	5420248	\N	\N	EFO	7	EFO	organism part	leaf sheath
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	6154145	\N	\N	EFO	8	EFO	material entity	leaf sheath
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020104	"A tubular portion of the leaf surrounding the stem, as in the Poaceae." []	6634784	\N	\N	EFO	9	EFO	experimental factor	leaf sheath
PO:0020121	\N	\N	"A root (PO:0009005) that develops from a lateral root primordium (PO:0000016) that is part of another root on the same plant." []	PO:0020121	"A root (PO:0009005) that develops from a lateral root primordium (PO:0000016) that is part of another root on the same plant." []	79466	\N	\N	EFO	0	EFO	lateral root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	lateral root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0020121	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0020121	"A root (PO:0009005) that develops from a lateral root primordium (PO:0000016) that is part of another root on the same plant." []	224705	\N	\N	EFO	1	EFO	root	lateral root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0020121	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0020121	"A root (PO:0009005) that develops from a lateral root primordium (PO:0000016) that is part of another root on the same plant." []	224706	\N	\N	EFO	1	EFO	root	lateral root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009005	\N	"" []	PO:0020121	"A root (PO:0009005) that develops from a lateral root primordium (PO:0000016) that is part of another root on the same plant." []	581617	\N	\N	EFO	2	EFO	plant component	lateral root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0020121	"A root (PO:0009005) that develops from a lateral root primordium (PO:0000016) that is part of another root on the same plant." []	581618	\N	\N	EFO	2	EFO	plant anatomical entity	lateral root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0020121	"A root (PO:0009005) that develops from a lateral root primordium (PO:0000016) that is part of another root on the same plant." []	1165666	\N	\N	EFO	3	EFO	anatomy basic component	lateral root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0020121	"A root (PO:0009005) that develops from a lateral root primordium (PO:0000016) that is part of another root on the same plant." []	1165667	\N	\N	EFO	3	EFO	anatomy basic component	lateral root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020121	"A root (PO:0009005) that develops from a lateral root primordium (PO:0000016) that is part of another root on the same plant." []	2049610	\N	\N	EFO	4	EFO	organism part	lateral root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020121	"A root (PO:0009005) that develops from a lateral root primordium (PO:0000016) that is part of another root on the same plant." []	3199618	\N	\N	EFO	5	EFO	material entity	lateral root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020121	"A root (PO:0009005) that develops from a lateral root primordium (PO:0000016) that is part of another root on the same plant." []	4404750	\N	\N	EFO	6	EFO	experimental factor	lateral root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020123	\N	\N	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	79467	\N	\N	EFO	0	EFO	root cap	root cap
PO:0025095	\N	\N	"A portion of parenchyma tissue (PO:0005421) that is part of a root (PO:0009005)." [POC:curators]	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	195850	\N	\N	EFO	0	EFO	root parenchyma	root cap
PO:0000025	PO:0020123	\N	"The portion of the root including the meristem and the root cap." []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	224707	\N	\N	EFO	1	EFO	root tip	root cap
PO:0000025	PO:0020123	\N	"The portion of the root including the meristem and the root cap." []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	224708	\N	\N	EFO	1	EFO	root tip	root cap
EFO:0000989	PO:0000025	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	581619	\N	\N	EFO	2	EFO	root structure	root cap
PO:0009005	PO:0000025	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	581620	\N	\N	EFO	2	EFO	root	root cap
PO:0009005	PO:0000025	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	581621	\N	\N	EFO	2	EFO	root	root cap
PO:0025001	PO:0000025	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	581622	\N	\N	EFO	2	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root cap
EFO:0000789	EFO:0000989	\N	"" []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	1165668	\N	\N	EFO	3	EFO	plant component	root cap
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	1165669	\N	\N	EFO	3	EFO	plant anatomical entity	root cap
EFO:0000789	PO:0009005	\N	"" []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	1165670	\N	\N	EFO	3	EFO	plant component	root cap
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	1165671	\N	\N	EFO	3	EFO	plant anatomical entity	root cap
EFO:0000786	EFO:0000789	\N	"" []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	2049611	\N	\N	EFO	4	EFO	anatomy basic component	root cap
EFO:0000786	PO:0025131	\N	"" []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	2049612	\N	\N	EFO	4	EFO	anatomy basic component	root cap
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	3199619	\N	\N	EFO	5	EFO	organism part	root cap
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	4404751	\N	\N	EFO	6	EFO	material entity	root cap
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020123	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	5420249	\N	\N	EFO	7	EFO	experimental factor	root cap
PO:0020124	\N	\N	"A stele that is part of a root" []	PO:0020124	"A stele that is part of a root" []	79468	\N	\N	EFO	0	EFO	root stele	root stele
EFO:0000989	PO:0020124	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0020124	"A stele that is part of a root" []	224709	\N	\N	EFO	1	EFO	root structure	root stele
PO:0009005	PO:0020124	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0020124	"A stele that is part of a root" []	224710	\N	\N	EFO	1	EFO	root	root stele
PO:0009005	PO:0020124	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0020124	"A stele that is part of a root" []	224711	\N	\N	EFO	1	EFO	root	root stele
PO:0025197	PO:0020124	\N	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	PO:0020124	"A stele that is part of a root" []	224712	\N	\N	EFO	1	EFO	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root stele
PO:0025197	PO:0020124	\N	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	PO:0020124	"A stele that is part of a root" []	224713	\N	\N	EFO	1	EFO	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root stele
EFO:0000789	EFO:0000989	\N	"" []	PO:0020124	"A stele that is part of a root" []	581623	\N	\N	EFO	2	EFO	plant component	root stele
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0020124	"A stele that is part of a root" []	581624	\N	\N	EFO	2	EFO	plant anatomical entity	root stele
EFO:0000789	PO:0009005	\N	"" []	PO:0020124	"A stele that is part of a root" []	581625	\N	\N	EFO	2	EFO	plant component	root stele
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0020124	"A stele that is part of a root" []	581626	\N	\N	EFO	2	EFO	plant anatomical entity	root stele
EFO:0000789	PO:0025197	\N	"" []	PO:0020124	"A stele that is part of a root" []	581627	\N	\N	EFO	2	EFO	plant component	root stele
PO:0025131	PO:0025197	\N	"An anatomical entity that is or was part of a plant." []	PO:0020124	"A stele that is part of a root" []	581628	\N	\N	EFO	2	EFO	plant anatomical entity	root stele
PO:0025001	PO:0025197	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0020124	"A stele that is part of a root" []	581629	\N	\N	EFO	2	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root stele
EFO:0000786	EFO:0000789	\N	"" []	PO:0020124	"A stele that is part of a root" []	1165672	\N	\N	EFO	3	EFO	anatomy basic component	root stele
EFO:0000786	PO:0025131	\N	"" []	PO:0020124	"A stele that is part of a root" []	1165673	\N	\N	EFO	3	EFO	anatomy basic component	root stele
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020124	"A stele that is part of a root" []	2049613	\N	\N	EFO	4	EFO	organism part	root stele
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020124	"A stele that is part of a root" []	3199620	\N	\N	EFO	5	EFO	material entity	root stele
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020124	"A stele that is part of a root" []	4404752	\N	\N	EFO	6	EFO	experimental factor	root stele
PO:0020126	\N	\N	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	79469	\N	\N	EFO	0	EFO	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025601	PO:0020126	\N	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	224714	\N	\N	EFO	1	EFO	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025601	PO:0020126	\N	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	224715	\N	\N	EFO	1	EFO	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0025601	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	581630	\N	\N	EFO	2	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0025601	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	581631	\N	\N	EFO	2	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009049	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	1165674	\N	\N	EFO	3	EFO	shoot	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009049	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	1165675	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	2049614	\N	\N	EFO	4	EFO	plant component	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	2049615	\N	\N	EFO	4	EFO	plant anatomical entity	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	2049616	\N	\N	EFO	4	EFO	plant component	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	2049617	\N	\N	EFO	4	EFO	plant anatomical entity	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	3199621	\N	\N	EFO	5	EFO	anatomy basic component	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	3199622	\N	\N	EFO	5	EFO	anatomy basic component	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	4404753	\N	\N	EFO	6	EFO	organism part	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	5420250	\N	\N	EFO	7	EFO	material entity	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020126	"A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122)." []	6154146	\N	\N	EFO	8	EFO	experimental factor	tassel inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020127	\N	\N	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	PO:0020127	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	79470	\N	\N	EFO	0	EFO	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0020127	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0020127	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	224716	\N	\N	EFO	1	EFO	root	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009005	PO:0020127	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0020127	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	224717	\N	\N	EFO	1	EFO	root	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009005	\N	"" []	PO:0020127	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	581632	\N	\N	EFO	2	EFO	plant component	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0020127	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	581633	\N	\N	EFO	2	EFO	plant anatomical entity	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0020127	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	1165676	\N	\N	EFO	3	EFO	anatomy basic component	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0020127	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	1165677	\N	\N	EFO	3	EFO	anatomy basic component	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020127	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	2049618	\N	\N	EFO	4	EFO	organism part	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020127	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	3199623	\N	\N	EFO	5	EFO	material entity	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020127	"A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127)." []	4404754	\N	\N	EFO	6	EFO	experimental factor	primary root {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020131	\N	\N	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	79471	\N	\N	EFO	0	EFO	lateral root cap	lateral root cap
PO:0025095	\N	\N	"A portion of parenchyma tissue (PO:0005421) that is part of a root (PO:0009005)." [POC:curators]	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	195851	\N	\N	EFO	0	EFO	root parenchyma	lateral root cap
PO:0020123	PO:0020131	\N	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	224718	\N	\N	EFO	1	EFO	root cap	lateral root cap
PO:0020123	PO:0020131	\N	"A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147)." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	224719	\N	\N	EFO	1	EFO	root cap	lateral root cap
PO:0000025	PO:0020123	\N	"The portion of the root including the meristem and the root cap." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	581634	\N	\N	EFO	2	EFO	root tip	lateral root cap
PO:0000025	PO:0020123	\N	"The portion of the root including the meristem and the root cap." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	581635	\N	\N	EFO	2	EFO	root tip	lateral root cap
EFO:0000989	PO:0000025	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	1165678	\N	\N	EFO	3	EFO	root structure	lateral root cap
PO:0009005	PO:0000025	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	1165679	\N	\N	EFO	3	EFO	root	lateral root cap
PO:0009005	PO:0000025	\N	"A plant axis (PO:0025004) that lacks shoot axis nodes (PO:0005004), grows indeterminately, and is usually positively geotropic." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	1165680	\N	\N	EFO	3	EFO	root	lateral root cap
PO:0025001	PO:0000025	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	1165681	\N	\N	EFO	3	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	lateral root cap
EFO:0000789	EFO:0000989	\N	"" []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	2049619	\N	\N	EFO	4	EFO	plant component	lateral root cap
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	2049620	\N	\N	EFO	4	EFO	plant anatomical entity	lateral root cap
EFO:0000789	PO:0009005	\N	"" []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	2049621	\N	\N	EFO	4	EFO	plant component	lateral root cap
PO:0025131	PO:0009005	\N	"An anatomical entity that is or was part of a plant." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	2049622	\N	\N	EFO	4	EFO	plant anatomical entity	lateral root cap
EFO:0000786	EFO:0000789	\N	"" []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	3199624	\N	\N	EFO	5	EFO	anatomy basic component	lateral root cap
EFO:0000786	PO:0025131	\N	"" []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	3199625	\N	\N	EFO	5	EFO	anatomy basic component	lateral root cap
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	4404755	\N	\N	EFO	6	EFO	organism part	lateral root cap
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	5420251	\N	\N	EFO	7	EFO	material entity	lateral root cap
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020131	"A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis." []	6154147	\N	\N	EFO	8	EFO	experimental factor	lateral root cap
PO:0020132	\N	\N	"Cell that constitutes the central part of the root cap, arranged in longitudinal files." []	PO:0020132	"Cell that constitutes the central part of the root cap, arranged in longitudinal files." []	79472	\N	\N	EFO	0	EFO	columella root cap cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	columella root cap cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025030	\N	\N	"A native plant cell (PO:0025606) that is part of a portion of ground tissue (PO:0025059)." [POC:curators, POC:Laurel_Cooper]	PO:0020132	"Cell that constitutes the central part of the root cap, arranged in longitudinal files." []	195852	\N	CL,TraitNet	EFO	0	EFO	ground tissue cell	columella root cap cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0020132	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0020132	"Cell that constitutes the central part of the root cap, arranged in longitudinal files." []	224720	\N	\N	EFO	1	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	columella root cap cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0020132	"Cell that constitutes the central part of the root cap, arranged in longitudinal files." []	581636	\N	\N	EFO	2	EFO	plant cell	columella root cap cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000324	PO:0009002	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	PO:0020132	"Cell that constitutes the central part of the root cap, arranged in longitudinal files." []	1165682	\N	\N	EFO	3	EFO	cell type	columella root cap cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020132	"Cell that constitutes the central part of the root cap, arranged in longitudinal files." []	2049623	\N	\N	EFO	4	EFO	material entity	columella root cap cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020132	"Cell that constitutes the central part of the root cap, arranged in longitudinal files." []	3199626	\N	\N	EFO	5	EFO	experimental factor	columella root cap cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020136	\N	\N	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	79473	\N	\N	EFO	0	EFO	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025598	PO:0020136	\N	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	224721	\N	\N	EFO	1	EFO	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025598	PO:0020136	\N	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	224722	\N	\N	EFO	1	EFO	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0025598	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	581637	\N	\N	EFO	2	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0025598	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	581638	\N	\N	EFO	2	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009049	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	1165683	\N	\N	EFO	3	EFO	shoot	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009049	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	1165684	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	2049624	\N	\N	EFO	4	EFO	plant component	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	2049625	\N	\N	EFO	4	EFO	plant anatomical entity	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	2049626	\N	\N	EFO	4	EFO	plant component	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	2049627	\N	\N	EFO	4	EFO	plant anatomical entity	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	3199627	\N	\N	EFO	5	EFO	anatomy basic component	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	3199628	\N	\N	EFO	5	EFO	anatomy basic component	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	4404756	\N	\N	EFO	6	EFO	organism part	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	5420252	\N	\N	EFO	7	EFO	material entity	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020136	"A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122)." []	6154148	\N	\N	EFO	8	EFO	experimental factor	ear inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020141	\N	\N	"A shoot node that is part of a stem." []	PO:0020141	"A shoot node that is part of a stem." []	79474	\N	\N	EFO	0	EFO	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0005004	\N	\N	"A cardinal organ part (PO:0025001) of a shoot axis (PO:0025029) where a bud (PO:0000055) may form and develop into a branch (PO:0025073), leaf (PO:0025034), flower (PO:0004541), inflorescence (PO:0009049) or nodal root (PO:0003005)." [GR:Pankaj_Jaiswal, POC:curators, POC:Laurel_Cooper]	PO:0020141	"A shoot node that is part of a stem." []	195853	\N	reference,TraitNet	EFO	0	EFO	shoot axis node	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009047	PO:0020141	\N	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	PO:0020141	"A shoot node that is part of a stem." []	224723	\N	\N	EFO	1	EFO	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009047	PO:0020141	\N	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	PO:0020141	"A shoot node that is part of a stem." []	224724	\N	\N	EFO	1	EFO	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0009047	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0020141	"A shoot node that is part of a stem." []	581639	\N	\N	EFO	2	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0009047	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0020141	"A shoot node that is part of a stem." []	581640	\N	\N	EFO	2	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0025029	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0020141	"A shoot node that is part of a stem." []	1165685	\N	\N	EFO	3	EFO	shoot	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020141	"A shoot node that is part of a stem." []	1165686	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020141	"A shoot node that is part of a stem." []	1165687	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0020141	"A shoot node that is part of a stem." []	2049628	\N	\N	EFO	4	EFO	plant component	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0020141	"A shoot node that is part of a stem." []	2049629	\N	\N	EFO	4	EFO	plant anatomical entity	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0020141	"A shoot node that is part of a stem." []	2049630	\N	\N	EFO	4	EFO	plant component	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0020141	"A shoot node that is part of a stem." []	2049631	\N	\N	EFO	4	EFO	plant anatomical entity	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0020141	"A shoot node that is part of a stem." []	3199629	\N	\N	EFO	5	EFO	anatomy basic component	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0020141	"A shoot node that is part of a stem." []	3199630	\N	\N	EFO	5	EFO	anatomy basic component	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020141	"A shoot node that is part of a stem." []	4404757	\N	\N	EFO	6	EFO	organism part	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020141	"A shoot node that is part of a stem." []	5420253	\N	\N	EFO	7	EFO	material entity	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020141	"A shoot node that is part of a stem." []	6154149	\N	\N	EFO	8	EFO	experimental factor	stem node {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020142	\N	\N	"A shoot internode that is part of a stem." []	PO:0020142	"A shoot internode that is part of a stem." []	79475	\N	\N	EFO	0	EFO	stem internode	stem internode
PO:0005005	\N	\N	"A cardinal organ part (PO:0025001) of a shoot axis (PO:0025029) that is between two shoot axis nodes (PO:0005004)." [POC:curators, POC:Laurel_Cooper]	PO:0020142	"A shoot internode that is part of a stem." []	195854	\N	Potato,reference,TraitNet	EFO	0	EFO	shoot axis internode	stem internode
PO:0009047	PO:0020142	\N	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	PO:0020142	"A shoot internode that is part of a stem." []	224725	\N	\N	EFO	1	EFO	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem internode
PO:0009047	PO:0020142	\N	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	PO:0020142	"A shoot internode that is part of a stem." []	224726	\N	\N	EFO	1	EFO	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem internode
PO:0025029	PO:0009047	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0020142	"A shoot internode that is part of a stem." []	581641	\N	\N	EFO	2	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem internode
PO:0025029	PO:0009047	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0020142	"A shoot internode that is part of a stem." []	581642	\N	\N	EFO	2	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem internode
EFO:0000992	PO:0025029	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0020142	"A shoot internode that is part of a stem." []	1165688	\N	\N	EFO	3	EFO	shoot	stem internode
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020142	"A shoot internode that is part of a stem." []	1165689	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem internode
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020142	"A shoot internode that is part of a stem." []	1165690	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stem internode
EFO:0000789	EFO:0000992	\N	"" []	PO:0020142	"A shoot internode that is part of a stem." []	2049632	\N	\N	EFO	4	EFO	plant component	stem internode
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0020142	"A shoot internode that is part of a stem." []	2049633	\N	\N	EFO	4	EFO	plant anatomical entity	stem internode
EFO:0000789	PO:0009006	\N	"" []	PO:0020142	"A shoot internode that is part of a stem." []	2049634	\N	\N	EFO	4	EFO	plant component	stem internode
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0020142	"A shoot internode that is part of a stem." []	2049635	\N	\N	EFO	4	EFO	plant anatomical entity	stem internode
EFO:0000786	EFO:0000789	\N	"" []	PO:0020142	"A shoot internode that is part of a stem." []	3199631	\N	\N	EFO	5	EFO	anatomy basic component	stem internode
EFO:0000786	PO:0025131	\N	"" []	PO:0020142	"A shoot internode that is part of a stem." []	3199632	\N	\N	EFO	5	EFO	anatomy basic component	stem internode
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020142	"A shoot internode that is part of a stem." []	4404758	\N	\N	EFO	6	EFO	organism part	stem internode
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020142	"A shoot internode that is part of a stem." []	5420254	\N	\N	EFO	7	EFO	material entity	stem internode
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020142	"A shoot internode that is part of a stem." []	6154150	\N	\N	EFO	8	EFO	experimental factor	stem internode
PO:0020144	\N	\N	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	79476	\N	\N	EFO	0	EFO	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0001948	PO:0020144	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	224727	\N	\N	EFO	1	EFO	shoot component	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009013	PO:0020144	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	224728	\N	\N	EFO	1	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0001948	\N	"" []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	581643	\N	\N	EFO	2	EFO	plant component	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0001948	\N	"An anatomical entity that is or was part of a plant." []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	581644	\N	\N	EFO	2	EFO	plant anatomical entity	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	581645	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	1165691	\N	\N	EFO	3	EFO	anatomy basic component	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	1165692	\N	\N	EFO	3	EFO	anatomy basic component	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	1165693	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	2049636	\N	\N	EFO	4	EFO	organism part	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	2049637	\N	\N	EFO	4	EFO	plant anatomical entity	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	3199633	\N	\N	EFO	5	EFO	material entity	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020144	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	4404759	\N	\N	EFO	6	EFO	experimental factor	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0020147	\N	\N	"" []	PO:0020147	"" []	79477	\N	\N	EFO	0	EFO	root apical meristem	root apical meristem
EFO:0000989	PO:0020147	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0020147	"" []	224729	\N	\N	EFO	1	EFO	root structure	root apical meristem
PO:0006085	PO:0020147	\N	"A meristem which is part of a root system" []	PO:0020147	"" []	224730	\N	\N	EFO	1	EFO	root meristem	root apical meristem
PO:0009013	PO:0020147	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0020147	"" []	224731	\N	\N	EFO	1	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root apical meristem
PO:0020144	PO:0020147	\N	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	PO:0020147	"" []	224732	\N	\N	EFO	1	EFO	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root apical meristem
EFO:0000789	EFO:0000989	\N	"" []	PO:0020147	"" []	581646	\N	\N	EFO	2	EFO	plant component	root apical meristem
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0020147	"" []	581647	\N	\N	EFO	2	EFO	plant anatomical entity	root apical meristem
PO:0009013	PO:0006085	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0020147	"" []	581648	\N	\N	EFO	2	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root apical meristem
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0020147	"" []	581649	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root apical meristem
PO:0009013	PO:0020144	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0020147	"" []	581650	\N	\N	EFO	2	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root apical meristem
EFO:0000786	EFO:0000789	\N	"" []	PO:0020147	"" []	3199636	\N	\N	EFO	5	EFO	anatomy basic component	root apical meristem
EFO:0000786	PO:0025131	\N	"" []	PO:0020147	"" []	3199637	\N	\N	EFO	5	EFO	anatomy basic component	root apical meristem
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0020147	"" []	1165696	\N	\N	EFO	3	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root apical meristem
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0020147	"" []	1165697	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root apical meristem
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020147	"" []	4067030	\N	\N	EFO	6	EFO	organism part	root apical meristem
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0020147	"" []	2049639	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	root apical meristem
EFO:0000789	PO:0009011	\N	"" []	PO:0020147	"" []	2049640	\N	\N	EFO	4	EFO	plant component	root apical meristem
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0020147	"" []	2049641	\N	\N	EFO	4	EFO	plant anatomical entity	root apical meristem
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020147	"" []	5060380	\N	\N	EFO	7	EFO	material entity	root apical meristem
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0020147	"" []	3199635	\N	\N	EFO	5	EFO	plant anatomical entity	root apical meristem
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020147	"" []	5877965	\N	\N	EFO	8	EFO	experimental factor	root apical meristem
PO:0020148	\N	\N	"" []	PO:0020148	"" []	79478	\N	\N	EFO	0	EFO	shoot apical meristem	shoot apical meristem
PO:0006079	\N	\N	"A portion of meristem tissue (PO:0009013) that is part of a shoot system (PO:0009006)." [GR:Pankaj_Jaiswal, POC:Laurel_Cooper]	PO:0020148	"" []	195855	\N	TraitNet	EFO	0	EFO	shoot system meristem	shoot apical meristem
EFO:0000992	PO:0020148	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0020148	"" []	224733	\N	\N	EFO	1	EFO	shoot	shoot apical meristem
PO:0000037	PO:0020148	\N	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	PO:0020148	"" []	224734	\N	\N	EFO	1	EFO	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apical meristem
PO:0009006	PO:0020148	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020148	"" []	224735	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apical meristem
PO:0009013	PO:0020148	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0020148	"" []	224736	\N	\N	EFO	1	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apical meristem
PO:0020144	PO:0020148	\N	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	PO:0020148	"" []	224737	\N	\N	EFO	1	EFO	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apical meristem
EFO:0000789	EFO:0000992	\N	"" []	PO:0020148	"" []	581651	\N	\N	EFO	2	EFO	plant component	shoot apical meristem
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0020148	"" []	581652	\N	\N	EFO	2	EFO	plant anatomical entity	shoot apical meristem
PO:0025029	PO:0000037	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0020148	"" []	581653	\N	\N	EFO	2	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apical meristem
EFO:0000789	PO:0009006	\N	"" []	PO:0020148	"" []	581654	\N	\N	EFO	2	EFO	plant component	shoot apical meristem
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0020148	"" []	581655	\N	\N	EFO	2	EFO	plant anatomical entity	shoot apical meristem
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0020148	"" []	581656	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apical meristem
PO:0009013	PO:0020144	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0020148	"" []	581657	\N	\N	EFO	2	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apical meristem
EFO:0000786	EFO:0000789	\N	"" []	PO:0020148	"" []	3199639	\N	\N	EFO	5	EFO	anatomy basic component	shoot apical meristem
EFO:0000786	PO:0025131	\N	"" []	PO:0020148	"" []	3199640	\N	\N	EFO	5	EFO	anatomy basic component	shoot apical meristem
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0020148	"" []	1165700	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apical meristem
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0020148	"" []	1165701	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apical meristem
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0020148	"" []	1165702	\N	\N	EFO	3	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apical meristem
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020148	"" []	4067031	\N	\N	EFO	6	EFO	organism part	shoot apical meristem
EFO:0000789	PO:0009011	\N	"" []	PO:0020148	"" []	2049643	\N	\N	EFO	4	EFO	plant component	shoot apical meristem
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0020148	"" []	2049644	\N	\N	EFO	4	EFO	plant anatomical entity	shoot apical meristem
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0020148	"" []	2049645	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot apical meristem
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020148	"" []	5060381	\N	\N	EFO	7	EFO	material entity	shoot apical meristem
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0020148	"" []	3199641	\N	\N	EFO	5	EFO	plant anatomical entity	shoot apical meristem
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020148	"" []	5877966	\N	\N	EFO	8	EFO	experimental factor	shoot apical meristem
PO:0020149	\N	\N	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	79479	\N	\N	EFO	0	EFO	quiescent center	quiescent center
PO:0009013	PO:0020149	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	224738	\N	\N	EFO	1	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	quiescent center
PO:0020147	PO:0020149	\N	"" []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	224739	\N	\N	EFO	1	EFO	root apical meristem	quiescent center
PO:0020147	PO:0020149	\N	"" []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	224740	\N	\N	EFO	1	EFO	root apical meristem	quiescent center
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	2049650	\N	\N	EFO	4	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	quiescent center
EFO:0000989	PO:0020147	\N	"The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	581659	\N	\N	EFO	2	EFO	root structure	quiescent center
PO:0009013	PO:0020147	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	581660	\N	\N	EFO	2	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	quiescent center
PO:0006085	PO:0020147	\N	"A meristem which is part of a root system" []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	581661	\N	\N	EFO	2	EFO	root meristem	quiescent center
PO:0020144	PO:0020147	\N	"A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	581662	\N	\N	EFO	2	EFO	apical meristem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	quiescent center
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	2989495	\N	\N	EFO	5	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	quiescent center
EFO:0000789	EFO:0000989	\N	"" []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	1165704	\N	\N	EFO	3	EFO	plant component	quiescent center
PO:0025131	EFO:0000989	\N	"An anatomical entity that is or was part of a plant." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	1165705	\N	\N	EFO	3	EFO	plant anatomical entity	quiescent center
PO:0009007	PO:0009013	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	1165706	\N	\N	EFO	3	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	quiescent center
PO:0009013	PO:0006085	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	1165707	\N	\N	EFO	3	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	quiescent center
PO:0009013	PO:0020144	\N	"Undifferentiated plant issue - the botanical equivalent of animal stem cells" []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	1165708	\N	\N	EFO	3	EFO	portion of meristem tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	quiescent center
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	4067032	\N	\N	EFO	6	EFO	plant anatomical entity	quiescent center
EFO:0000786	EFO:0000789	\N	"" []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	4404763	\N	\N	EFO	6	EFO	anatomy basic component	quiescent center
EFO:0000786	PO:0025131	\N	"" []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	4404764	\N	\N	EFO	6	EFO	anatomy basic component	quiescent center
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	2049649	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	quiescent center
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	5060382	\N	\N	EFO	7	EFO	organism part	quiescent center
EFO:0000789	PO:0009011	\N	"" []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	3199643	\N	\N	EFO	5	EFO	plant component	quiescent center
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	3199644	\N	\N	EFO	5	EFO	plant anatomical entity	quiescent center
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	5877967	\N	\N	EFO	8	EFO	material entity	quiescent center
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0020149	"A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005)." []	6471191	\N	\N	EFO	9	EFO	experimental factor	quiescent center
PO:0025001	\N	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0025001	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	79480	\N	\N	EFO	0	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009008	\N	\N	"A multi-tissue plant structure (PO:0025496) that is a functional unit, is a proper part of a whole plant (PO:0000003), and includes portions of plant tissue (PO:0009007) of at least two different types that derive from a common developmental path." [POC:curators]	PO:0025001	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	195856	\N	TraitNet	EFO	0	EFO	plant organ	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025498	\N	\N	"A plant structure (PO:0009011) that is a proper part of a multi-tissue plant structure (PO:0025496) and includes portions of plant tissues (PO:0009007) of at least two different types." [POC:curators]	PO:0025001	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	195857	\N	\N	EFO	0	EFO	cardinal part of multi-tissue plant structure	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0025001	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025001	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	224741	\N	\N	EFO	1	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0025001	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	581663	\N	\N	EFO	2	EFO	plant component	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025001	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	581664	\N	\N	EFO	2	EFO	plant anatomical entity	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025001	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	1165709	\N	\N	EFO	3	EFO	anatomy basic component	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025001	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	1165710	\N	\N	EFO	3	EFO	anatomy basic component	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025001	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	2049651	\N	\N	EFO	4	EFO	organism part	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025001	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	3199645	\N	\N	EFO	5	EFO	material entity	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025001	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	4404765	\N	\N	EFO	6	EFO	experimental factor	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025022	\N	\N	"" []	PO:0025022	"" []	79481	\N	\N	EFO	0	EFO	collective leaf structure	collective leaf structure
PO:0025023	\N	\N	"A collective plant organ structure (PO:0025007) that consists of two or more phyllomes (PO:0006001) originating from the same node or from one or more adjacent nodes with compressed shoot internodes (PO:0005005)." [POC:curators]	PO:0025022	"" []	195858	\N	TraitNet	EFO	0	EFO	collective phyllome structure	collective leaf structure
EFO:0000789	PO:0025022	\N	"" []	PO:0025022	"" []	224742	\N	\N	EFO	1	EFO	plant component	collective leaf structure
PO:0025131	PO:0025022	\N	"An anatomical entity that is or was part of a plant." []	PO:0025022	"" []	224743	\N	\N	EFO	1	EFO	plant anatomical entity	collective leaf structure
EFO:0000786	EFO:0000789	\N	"" []	PO:0025022	"" []	581665	\N	\N	EFO	2	EFO	anatomy basic component	collective leaf structure
EFO:0000786	PO:0025131	\N	"" []	PO:0025022	"" []	581666	\N	\N	EFO	2	EFO	anatomy basic component	collective leaf structure
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025022	"" []	1165711	\N	\N	EFO	3	EFO	organism part	collective leaf structure
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025022	"" []	2049652	\N	\N	EFO	4	EFO	material entity	collective leaf structure
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025022	"" []	3199646	\N	\N	EFO	5	EFO	experimental factor	collective leaf structure
PO:0025029	\N	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	79482	\N	\N	EFO	0	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025004	\N	\N	"An axial plant organ (PO:0009008)." [POC:curators]	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	195859	\N	TraitNet	EFO	0	EFO	plant axis	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0025029	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	224744	\N	\N	EFO	1	EFO	shoot	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	224745	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	224746	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	581667	\N	\N	EFO	2	EFO	plant component	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	581668	\N	\N	EFO	2	EFO	plant anatomical entity	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	581669	\N	\N	EFO	2	EFO	plant component	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	581670	\N	\N	EFO	2	EFO	plant anatomical entity	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	1165712	\N	\N	EFO	3	EFO	anatomy basic component	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	1165713	\N	\N	EFO	3	EFO	anatomy basic component	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	2049653	\N	\N	EFO	4	EFO	organism part	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	3199647	\N	\N	EFO	5	EFO	material entity	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025029	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	4404766	\N	\N	EFO	6	EFO	experimental factor	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025034	\N	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	79483	\N	\N	EFO	0	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	224747	\N	\N	EFO	1	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	224748	\N	\N	EFO	1	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	581671	\N	\N	EFO	2	EFO	shoot	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	581672	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	581673	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	1165714	\N	\N	EFO	3	EFO	plant component	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	1165715	\N	\N	EFO	3	EFO	plant anatomical entity	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	1165716	\N	\N	EFO	3	EFO	plant component	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	1165717	\N	\N	EFO	3	EFO	plant anatomical entity	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	2049654	\N	\N	EFO	4	EFO	anatomy basic component	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	2049655	\N	\N	EFO	4	EFO	anatomy basic component	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	3199648	\N	\N	EFO	5	EFO	organism part	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	4404767	\N	\N	EFO	6	EFO	material entity	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025034	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	5420256	\N	\N	EFO	7	EFO	experimental factor	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025074	\N	\N	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	79484	\N	\N	EFO	0	EFO	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0025074	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	224749	\N	\N	EFO	1	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025279	PO:0025074	\N	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	224750	\N	\N	EFO	1	EFO	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	581674	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0025279	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	581675	\N	\N	EFO	2	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	1165718	\N	\N	EFO	3	EFO	plant component	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	1165719	\N	\N	EFO	3	EFO	plant anatomical entity	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	1165720	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	2049656	\N	\N	EFO	4	EFO	anatomy basic component	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	2049657	\N	\N	EFO	4	EFO	anatomy basic component	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	2049658	\N	\N	EFO	4	EFO	plant anatomical entity	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	3199649	\N	\N	EFO	5	EFO	organism part	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	4404768	\N	\N	EFO	6	EFO	material entity	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025074	"A megagametophyte (PO:0025279) that is located in a plant ovary ovule (PO:0025490)." []	5420257	\N	\N	EFO	7	EFO	experimental factor	embryo sac {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025075	\N	\N	"leaf of a moss or liverwort" []	PO:0025075	"leaf of a moss or liverwort" []	79485	\N	\N	EFO	0	EFO	phyllid	phyllid
PO:0030018	\N	\N	"A shoot system (PO:0009006) that consists of the shoot axes (PO:0025029) and non-vascular leaves (PO:0025075) of a plant in the gametophyte development stage (PO:0028003) ." [ISBN:0962073342, POC:curators]	PO:0025075	"leaf of a moss or liverwort" []	195860	\N	Bryophytes	EFO	0	EFO	gametophore	phyllid
EFO:0000988	PO:0025075	\N	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	PO:0025075	"leaf of a moss or liverwort" []	224751	\N	\N	EFO	1	EFO	gametophyte	phyllid
PO:0025034	PO:0025075	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0025075	"leaf of a moss or liverwort" []	224752	\N	\N	EFO	1	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phyllid
PO:0025034	PO:0025075	\N	"A phyllome (PO:0006001) that is not associated with a reproductive structure." []	PO:0025075	"leaf of a moss or liverwort" []	224753	\N	\N	EFO	1	EFO	leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phyllid
EFO:0000789	EFO:0000988	\N	"" []	PO:0025075	"leaf of a moss or liverwort" []	581676	\N	\N	EFO	2	EFO	plant component	phyllid
PO:0025131	EFO:0000988	\N	"An anatomical entity that is or was part of a plant." []	PO:0025075	"leaf of a moss or liverwort" []	581677	\N	\N	EFO	2	EFO	plant anatomical entity	phyllid
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0025075	"leaf of a moss or liverwort" []	581678	\N	\N	EFO	2	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phyllid
PO:0006001	PO:0025034	\N	"A lateral plant organ (PO:0009008) produced by a shoot apical meristem (PO:0020148)." []	PO:0025075	"leaf of a moss or liverwort" []	581679	\N	\N	EFO	2	EFO	phyllome {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phyllid
EFO:0000786	EFO:0000789	\N	"" []	PO:0025075	"leaf of a moss or liverwort" []	3199651	\N	\N	EFO	5	EFO	anatomy basic component	phyllid
EFO:0000786	PO:0025131	\N	"" []	PO:0025075	"leaf of a moss or liverwort" []	3199652	\N	\N	EFO	5	EFO	anatomy basic component	phyllid
EFO:0000992	PO:0006001	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0025075	"leaf of a moss or liverwort" []	1165723	\N	\N	EFO	3	EFO	shoot	phyllid
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0025075	"leaf of a moss or liverwort" []	1165724	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phyllid
PO:0009006	PO:0006001	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0025075	"leaf of a moss or liverwort" []	1165725	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	phyllid
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025075	"leaf of a moss or liverwort" []	4067033	\N	\N	EFO	6	EFO	organism part	phyllid
EFO:0000789	EFO:0000992	\N	"" []	PO:0025075	"leaf of a moss or liverwort" []	2049660	\N	\N	EFO	4	EFO	plant component	phyllid
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0025075	"leaf of a moss or liverwort" []	2049661	\N	\N	EFO	4	EFO	plant anatomical entity	phyllid
EFO:0000789	PO:0009006	\N	"" []	PO:0025075	"leaf of a moss or liverwort" []	2049662	\N	\N	EFO	4	EFO	plant component	phyllid
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0025075	"leaf of a moss or liverwort" []	2049663	\N	\N	EFO	4	EFO	plant anatomical entity	phyllid
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025075	"leaf of a moss or liverwort" []	5060383	\N	\N	EFO	7	EFO	material entity	phyllid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025075	"leaf of a moss or liverwort" []	5877968	\N	\N	EFO	8	EFO	experimental factor	phyllid
PO:0025121	\N	\N	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	79486	\N	\N	EFO	0	EFO	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000084	\N	\N	"A gamete (PO:0025006) produced by an antheridium (PO:0025125) or a microgametophyte (PO:0025280)." [POC:curators]	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	195861	\N	CL,reference	EFO	0	EFO	plant sperm cell	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025281	PO:0025121	\N	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	224754	\N	\N	EFO	1	EFO	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025281	PO:0025121	\N	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	224755	\N	\N	EFO	1	EFO	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025280	PO:0025281	\N	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	581680	\N	\N	EFO	2	EFO	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025280	PO:0025281	\N	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	581681	\N	\N	EFO	2	EFO	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0025280	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	1165726	\N	\N	EFO	3	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0025280	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	1165727	\N	\N	EFO	3	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	2049664	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	2049665	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	3199653	\N	\N	EFO	5	EFO	plant component	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	3199654	\N	\N	EFO	5	EFO	plant anatomical entity	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	3199655	\N	\N	EFO	5	EFO	plant anatomical entity	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	4404770	\N	\N	EFO	6	EFO	anatomy basic component	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	4404771	\N	\N	EFO	6	EFO	anatomy basic component	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	5420258	\N	\N	EFO	7	EFO	organism part	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	6154151	\N	\N	EFO	8	EFO	material entity	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025121	"A plant sperm cell (PO:0000084) that is part of the pollen (PO:0025281)." []	6634785	\N	\N	EFO	9	EFO	experimental factor	pollen sperm cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	\N	\N	"An anatomical entity that is or was part of a plant." []	PO:0025131	"An anatomical entity that is or was part of a plant." []	79487	\N	\N	EFO	0	EFO	plant anatomical entity	plant anatomical entity
EFO:0000786	PO:0025131	\N	"" []	PO:0025131	"An anatomical entity that is or was part of a plant." []	224756	\N	\N	EFO	1	EFO	anatomy basic component	plant anatomical entity
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025131	"An anatomical entity that is or was part of a plant." []	581682	\N	\N	EFO	2	EFO	organism part	plant anatomical entity
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025131	"An anatomical entity that is or was part of a plant." []	1165728	\N	\N	EFO	3	EFO	material entity	plant anatomical entity
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025131	"An anatomical entity that is or was part of a plant." []	2049666	\N	\N	EFO	4	EFO	experimental factor	plant anatomical entity
PO:0025196	\N	\N	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	79489	\N	\N	EFO	0	EFO	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0025196	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	224757	\N	\N	EFO	1	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009089	PO:0025196	\N	"A maximal portion of nutritive plant tissue in a seed." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	224758	\N	\N	EFO	1	EFO	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009089	PO:0025196	\N	"A maximal portion of nutritive plant tissue in a seed." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	224759	\N	\N	EFO	1	EFO	endosperm {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	1165732	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009010	PO:0009089	\N	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	581684	\N	\N	EFO	2	EFO	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0009089	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	581685	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009010	PO:0009089	\N	"A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088)." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	581686	\N	\N	EFO	2	EFO	seed {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	1965417	\N	\N	EFO	4	EFO	plant anatomical entity	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009010	\N	"" []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	1165730	\N	\N	EFO	3	EFO	plant component	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009010	\N	"An anatomical entity that is or was part of a plant." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	1165731	\N	\N	EFO	3	EFO	plant anatomical entity	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	2049667	\N	\N	EFO	4	EFO	anatomy basic component	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	2049668	\N	\N	EFO	4	EFO	anatomy basic component	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	3199656	\N	\N	EFO	5	EFO	organism part	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	4404772	\N	\N	EFO	6	EFO	material entity	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025196	"A portion of plant tissue that is part of an endosperm and is composed of basal endosperm transfer cells." []	5420259	\N	\N	EFO	7	EFO	experimental factor	basal endosperm transfer layer {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025197	\N	\N	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	PO:0025197	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	79490	\N	\N	EFO	0	EFO	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025004	\N	\N	"An axial plant organ (PO:0009008)." [POC:curators]	PO:0025197	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	195866	\N	TraitNet	EFO	0	EFO	plant axis	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0025197	\N	"" []	PO:0025197	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	224760	\N	\N	EFO	1	EFO	plant component	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025001	PO:0025197	\N	"A cardinal part of multi-tissue plant structure (PO:0025498) that is a proper part of a plant organ (PO:0009008) and includes portions of plant tissue (PO:0009007) of at least two different types." []	PO:0025197	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	224761	\N	\N	EFO	1	EFO	cardinal organ part {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0025197	\N	"An anatomical entity that is or was part of a plant." []	PO:0025197	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	224762	\N	\N	EFO	1	EFO	plant anatomical entity	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025197	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	581687	\N	\N	EFO	2	EFO	anatomy basic component	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025197	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	581688	\N	\N	EFO	2	EFO	anatomy basic component	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025197	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	1165733	\N	\N	EFO	3	EFO	organism part	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025197	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	2049669	\N	\N	EFO	4	EFO	material entity	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025197	"A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." []	3199657	\N	\N	EFO	5	EFO	experimental factor	stele {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025223	\N	\N	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	79491	\N	\N	EFO	0	EFO	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000037	PO:0025223	\N	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	224763	\N	\N	EFO	1	EFO	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000037	PO:0025223	\N	"A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127)." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	224764	\N	\N	EFO	1	EFO	shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0000037	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	581689	\N	\N	EFO	2	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025029	PO:0000037	\N	"A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	581690	\N	\N	EFO	2	EFO	shoot axis {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0025029	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	1165734	\N	\N	EFO	3	EFO	shoot	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	1165735	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0025029	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	1165736	\N	\N	EFO	3	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	2049670	\N	\N	EFO	4	EFO	plant component	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	2049671	\N	\N	EFO	4	EFO	plant anatomical entity	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	2049672	\N	\N	EFO	4	EFO	plant component	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	2049673	\N	\N	EFO	4	EFO	plant anatomical entity	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	3199658	\N	\N	EFO	5	EFO	anatomy basic component	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	3199659	\N	\N	EFO	5	EFO	anatomy basic component	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	4404773	\N	\N	EFO	6	EFO	organism part	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	5420260	\N	\N	EFO	7	EFO	material entity	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025223	"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." []	6154152	\N	\N	EFO	8	EFO	experimental factor	vegetative shoot apex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025279	\N	\N	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	79492	\N	\N	EFO	0	EFO	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0025279	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	224765	\N	\N	EFO	1	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0025279	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	224766	\N	\N	EFO	1	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	581691	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	581692	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	1165737	\N	\N	EFO	3	EFO	plant component	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	1165738	\N	\N	EFO	3	EFO	plant anatomical entity	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	1165739	\N	\N	EFO	3	EFO	plant anatomical entity	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	2049674	\N	\N	EFO	4	EFO	anatomy basic component	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	2049675	\N	\N	EFO	4	EFO	anatomy basic component	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	3199660	\N	\N	EFO	5	EFO	organism part	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	4404774	\N	\N	EFO	6	EFO	material entity	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025279	"A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094)." []	5420261	\N	\N	EFO	7	EFO	experimental factor	megagametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025280	\N	\N	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	79493	\N	\N	EFO	0	EFO	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0025280	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	224767	\N	\N	EFO	1	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0025280	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	224768	\N	\N	EFO	1	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	581693	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	581694	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	1165740	\N	\N	EFO	3	EFO	plant component	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	1165741	\N	\N	EFO	3	EFO	plant anatomical entity	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	1165742	\N	\N	EFO	3	EFO	plant anatomical entity	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	2049676	\N	\N	EFO	4	EFO	anatomy basic component	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	2049677	\N	\N	EFO	4	EFO	anatomy basic component	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	3199661	\N	\N	EFO	5	EFO	organism part	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	4404775	\N	\N	EFO	6	EFO	material entity	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025280	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	5420262	\N	\N	EFO	7	EFO	experimental factor	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025281	\N	\N	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	79494	\N	\N	EFO	0	EFO	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025280	PO:0025281	\N	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	224769	\N	\N	EFO	1	EFO	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025280	PO:0025281	\N	"A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084)." []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	224770	\N	\N	EFO	1	EFO	microgametophyte {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0025280	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	581695	\N	\N	EFO	2	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0000003	PO:0025280	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	581696	\N	\N	EFO	2	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	1165743	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	1165744	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	2049678	\N	\N	EFO	4	EFO	plant component	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	2049679	\N	\N	EFO	4	EFO	plant anatomical entity	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	2049680	\N	\N	EFO	4	EFO	plant anatomical entity	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	3199662	\N	\N	EFO	5	EFO	anatomy basic component	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	3199663	\N	\N	EFO	5	EFO	anatomy basic component	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	4404776	\N	\N	EFO	6	EFO	organism part	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	5420263	\N	\N	EFO	7	EFO	material entity	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025281	"A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277)." []	6154153	\N	\N	EFO	8	EFO	experimental factor	pollen {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025355	\N	\N	"A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure." []	PO:0025355	"A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure." []	79495	\N	\N	EFO	0	EFO	corm	corm
EFO:0000997	PO:0025355	\N	"" []	PO:0025355	"A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure." []	224771	\N	\N	EFO	1	EFO	storage organ	corm
PO:0009006	PO:0025355	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0025355	"A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure." []	224772	\N	\N	EFO	1	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	corm
EFO:0000789	EFO:0000997	\N	"" []	PO:0025355	"A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure." []	581697	\N	\N	EFO	2	EFO	plant component	corm
PO:0025131	EFO:0000997	\N	"An anatomical entity that is or was part of a plant." []	PO:0025355	"A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure." []	581698	\N	\N	EFO	2	EFO	plant anatomical entity	corm
EFO:0000786	EFO:0000789	\N	"" []	PO:0025355	"A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure." []	1165745	\N	\N	EFO	3	EFO	anatomy basic component	corm
EFO:0000786	PO:0025131	\N	"" []	PO:0025355	"A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure." []	1165746	\N	\N	EFO	3	EFO	anatomy basic component	corm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025355	"A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure." []	2049681	\N	\N	EFO	4	EFO	organism part	corm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025355	"A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure." []	3199664	\N	\N	EFO	5	EFO	material entity	corm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025355	"A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure." []	4404777	\N	\N	EFO	6	EFO	experimental factor	corm
PO:0025475	\N	\N	"A root development stage during which a coleorhiza emerges from the seed coat." []	PO:0025475	"A root development stage during which a coleorhiza emerges from the seed coat." []	79496	\N	\N	EFO	0	EFO	coleorhiza emergence stage	coleorhiza emergence stage
PO:0007520	\N	\N	"Stages of development of a root defined by characteristic morphological, structural, histological or other visible features." [GR:Anuradha_Pujar]	PO:0025475	"A root development stage during which a coleorhiza emerges from the seed coat." []	195867	\N	\N	EFO	0	EFO	root development stage	coleorhiza emergence stage
PO:0007057	PO:0025475	\N	"The resumption of growth by the embryo in a seed." []	PO:0025475	"A root development stage during which a coleorhiza emerges from the seed coat." []	224773	\N	\N	EFO	1	EFO	0 seed germination stage	coleorhiza emergence stage
PO:0007057	PO:0025475	\N	"The resumption of growth by the embryo in a seed." []	PO:0025475	"A root development stage during which a coleorhiza emerges from the seed coat." []	224774	\N	\N	EFO	1	EFO	0 seed germination stage	coleorhiza emergence stage
PO:0028002	PO:0007057	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0025475	"A root development stage during which a coleorhiza emerges from the seed coat." []	581699	\N	\N	EFO	2	EFO	sporophyte development stage	coleorhiza emergence stage
PO:0007134	PO:0007057	\N	"A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094)." []	PO:0025475	"A root development stage during which a coleorhiza emerges from the seed coat." []	581700	\N	\N	EFO	2	EFO	sporophyte vegetative stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	coleorhiza emergence stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0025475	"A root development stage during which a coleorhiza emerges from the seed coat." []	1165747	\N	\N	EFO	3	EFO	plant structure development stage	coleorhiza emergence stage
PO:0028002	PO:0007134	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0025475	"A root development stage during which a coleorhiza emerges from the seed coat." []	1165748	\N	\N	EFO	3	EFO	sporophyte development stage	coleorhiza emergence stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0025475	"A root development stage during which a coleorhiza emerges from the seed coat." []	2049682	\N	\N	EFO	4	EFO	developmental stage	coleorhiza emergence stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0025475	"A root development stage during which a coleorhiza emerges from the seed coat." []	3199665	\N	\N	EFO	5	EFO	process	coleorhiza emergence stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025475	"A root development stage during which a coleorhiza emerges from the seed coat." []	4404778	\N	\N	EFO	6	EFO	experimental factor	coleorhiza emergence stage
PO:0025501	\N	\N	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	PO:0025501	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	79497	\N	\N	EFO	0	EFO	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001002	PO:0025501	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	PO:0025501	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	224775	\N	\N	EFO	1	EFO	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001002	PO:0025501	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	PO:0025501	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	224776	\N	\N	EFO	1	EFO	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0001002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0025501	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	581701	\N	\N	EFO	2	EFO	plant structure development stage	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0025501	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	1165749	\N	\N	EFO	3	EFO	developmental stage	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0025501	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	2049683	\N	\N	EFO	4	EFO	process	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025501	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	3199666	\N	\N	EFO	5	EFO	experimental factor	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025502	\N	\N	"A fruit development stage (PO:0001002) during which a single fruit (PO:0009001) participates in the process of fruit ripening (GO:0009835)." []	PO:0025502	"A fruit development stage (PO:0001002) during which a single fruit (PO:0009001) participates in the process of fruit ripening (GO:0009835)." []	79498	\N	\N	EFO	0	EFO	fruit ripening stage	fruit ripening stage
PO:0001002	PO:0025502	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	PO:0025502	"A fruit development stage (PO:0001002) during which a single fruit (PO:0009001) participates in the process of fruit ripening (GO:0009835)." []	224777	\N	\N	EFO	1	EFO	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit ripening stage
PO:0009012	PO:0025502	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0025502	"A fruit development stage (PO:0001002) during which a single fruit (PO:0009001) participates in the process of fruit ripening (GO:0009835)." []	224778	\N	\N	EFO	1	EFO	plant structure development stage	fruit ripening stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0025502	"A fruit development stage (PO:0001002) during which a single fruit (PO:0009001) participates in the process of fruit ripening (GO:0009835)." []	581702	\N	\N	EFO	2	EFO	developmental stage	fruit ripening stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0025502	"A fruit development stage (PO:0001002) during which a single fruit (PO:0009001) participates in the process of fruit ripening (GO:0009835)." []	1165750	\N	\N	EFO	3	EFO	process	fruit ripening stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025502	"A fruit development stage (PO:0001002) during which a single fruit (PO:0009001) participates in the process of fruit ripening (GO:0009835)." []	2049684	\N	\N	EFO	4	EFO	experimental factor	fruit ripening stage
PO:0025504	\N	\N	"A fruit formation stage (PO:0025501) that begins when the plant cells (PO:0009002) in a fruit (PO:0009001) begin to divide or expand, and ends when the fruit has reached 10% of its final size." []	PO:0025504	"A fruit formation stage (PO:0025501) that begins when the plant cells (PO:0009002) in a fruit (PO:0009001) begin to divide or expand, and ends when the fruit has reached 10% of its final size." []	79499	\N	\N	EFO	0	EFO	fruit size up to 10% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size up to 10% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025501	PO:0025504	\N	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	PO:0025504	"A fruit formation stage (PO:0025501) that begins when the plant cells (PO:0009002) in a fruit (PO:0009001) begin to divide or expand, and ends when the fruit has reached 10% of its final size." []	224779	\N	\N	EFO	1	EFO	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size up to 10% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025501	PO:0025504	\N	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	PO:0025504	"A fruit formation stage (PO:0025501) that begins when the plant cells (PO:0009002) in a fruit (PO:0009001) begin to divide or expand, and ends when the fruit has reached 10% of its final size." []	224780	\N	\N	EFO	1	EFO	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size up to 10% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001002	PO:0025501	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	PO:0025504	"A fruit formation stage (PO:0025501) that begins when the plant cells (PO:0009002) in a fruit (PO:0009001) begin to divide or expand, and ends when the fruit has reached 10% of its final size." []	581703	\N	\N	EFO	2	EFO	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size up to 10% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001002	PO:0025501	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	PO:0025504	"A fruit formation stage (PO:0025501) that begins when the plant cells (PO:0009002) in a fruit (PO:0009001) begin to divide or expand, and ends when the fruit has reached 10% of its final size." []	581704	\N	\N	EFO	2	EFO	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size up to 10% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0001002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0025504	"A fruit formation stage (PO:0025501) that begins when the plant cells (PO:0009002) in a fruit (PO:0009001) begin to divide or expand, and ends when the fruit has reached 10% of its final size." []	1165751	\N	\N	EFO	3	EFO	plant structure development stage	fruit size up to 10% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0025504	"A fruit formation stage (PO:0025501) that begins when the plant cells (PO:0009002) in a fruit (PO:0009001) begin to divide or expand, and ends when the fruit has reached 10% of its final size." []	2049685	\N	\N	EFO	4	EFO	developmental stage	fruit size up to 10% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0025504	"A fruit formation stage (PO:0025501) that begins when the plant cells (PO:0009002) in a fruit (PO:0009001) begin to divide or expand, and ends when the fruit has reached 10% of its final size." []	3199667	\N	\N	EFO	5	EFO	process	fruit size up to 10% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025504	"A fruit formation stage (PO:0025501) that begins when the plant cells (PO:0009002) in a fruit (PO:0009001) begin to divide or expand, and ends when the fruit has reached 10% of its final size." []	4404779	\N	\N	EFO	6	EFO	experimental factor	fruit size up to 10% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025506	\N	\N	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 30 to 50% of its final size." []	PO:0025506	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 30 to 50% of its final size." []	79500	\N	\N	EFO	0	EFO	fruit size 30 to 50% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 30 to 50% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025501	PO:0025506	\N	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	PO:0025506	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 30 to 50% of its final size." []	224781	\N	\N	EFO	1	EFO	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 30 to 50% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025501	PO:0025506	\N	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	PO:0025506	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 30 to 50% of its final size." []	224782	\N	\N	EFO	1	EFO	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 30 to 50% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001002	PO:0025501	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	PO:0025506	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 30 to 50% of its final size." []	581705	\N	\N	EFO	2	EFO	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 30 to 50% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001002	PO:0025501	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	PO:0025506	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 30 to 50% of its final size." []	581706	\N	\N	EFO	2	EFO	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 30 to 50% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0001002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0025506	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 30 to 50% of its final size." []	1165752	\N	\N	EFO	3	EFO	plant structure development stage	fruit size 30 to 50% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0025506	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 30 to 50% of its final size." []	2049686	\N	\N	EFO	4	EFO	developmental stage	fruit size 30 to 50% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0025506	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 30 to 50% of its final size." []	3199668	\N	\N	EFO	5	EFO	process	fruit size 30 to 50% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025506	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 30 to 50% of its final size." []	4404780	\N	\N	EFO	6	EFO	experimental factor	fruit size 30 to 50% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025507	\N	\N	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 50 to 70% of its final size." []	PO:0025507	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 50 to 70% of its final size." []	79501	\N	\N	EFO	0	EFO	fruit size 50 to 70% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 50 to 70% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025501	PO:0025507	\N	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	PO:0025507	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 50 to 70% of its final size." []	224783	\N	\N	EFO	1	EFO	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 50 to 70% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025501	PO:0025507	\N	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	PO:0025507	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 50 to 70% of its final size." []	224784	\N	\N	EFO	1	EFO	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 50 to 70% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001002	PO:0025501	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	PO:0025507	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 50 to 70% of its final size." []	581707	\N	\N	EFO	2	EFO	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 50 to 70% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001002	PO:0025501	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	PO:0025507	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 50 to 70% of its final size." []	581708	\N	\N	EFO	2	EFO	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 50 to 70% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0001002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0025507	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 50 to 70% of its final size." []	1165753	\N	\N	EFO	3	EFO	plant structure development stage	fruit size 50 to 70% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0025507	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 50 to 70% of its final size." []	2049687	\N	\N	EFO	4	EFO	developmental stage	fruit size 50 to 70% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0025507	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 50 to 70% of its final size." []	3199669	\N	\N	EFO	5	EFO	process	fruit size 50 to 70% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025507	"A fruit formation stage (PO:0025501) that spans the interval when a fruit (PO:0009001) has reached 50 to 70% of its final size." []	4404781	\N	\N	EFO	6	EFO	experimental factor	fruit size 50 to 70% stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025508	\N	\N	"A fruit formation stage (PO:0025501) that spans begins when a fruit (PO:0009001) has reached 70% of its final size and ends when a fruit has reached its final size and a fruit ripening stage (PO:0025502) begins." []	PO:0025508	"A fruit formation stage (PO:0025501) that spans begins when a fruit (PO:0009001) has reached 70% of its final size and ends when a fruit has reached its final size and a fruit ripening stage (PO:0025502) begins." []	79502	\N	\N	EFO	0	EFO	fruit size 70% to final size stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 70% to final size stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025501	PO:0025508	\N	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	PO:0025508	"A fruit formation stage (PO:0025501) that spans begins when a fruit (PO:0009001) has reached 70% of its final size and ends when a fruit has reached its final size and a fruit ripening stage (PO:0025502) begins." []	224785	\N	\N	EFO	1	EFO	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 70% to final size stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025501	PO:0025508	\N	"A fruit development stage (PO:0001002) that begins with the formation of a plant zygote (PO:0000423) that is contained in the fruit (PO:0009001) being studied and ends when that fruit's fruit ripening stage (PO:0025502) begins." []	PO:0025508	"A fruit formation stage (PO:0025501) that spans begins when a fruit (PO:0009001) has reached 70% of its final size and ends when a fruit has reached its final size and a fruit ripening stage (PO:0025502) begins." []	224786	\N	\N	EFO	1	EFO	fruit formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 70% to final size stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001002	PO:0025501	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	PO:0025508	"A fruit formation stage (PO:0025501) that spans begins when a fruit (PO:0009001) has reached 70% of its final size and ends when a fruit has reached its final size and a fruit ripening stage (PO:0025502) begins." []	581709	\N	\N	EFO	2	EFO	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 70% to final size stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0001002	PO:0025501	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a single fruit (PO:0009001)." []	PO:0025508	"A fruit formation stage (PO:0025501) that spans begins when a fruit (PO:0009001) has reached 70% of its final size and ends when a fruit has reached its final size and a fruit ripening stage (PO:0025502) begins." []	581710	\N	\N	EFO	2	EFO	fruit development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fruit size 70% to final size stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0001002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0025508	"A fruit formation stage (PO:0025501) that spans begins when a fruit (PO:0009001) has reached 70% of its final size and ends when a fruit has reached its final size and a fruit ripening stage (PO:0025502) begins." []	1165754	\N	\N	EFO	3	EFO	plant structure development stage	fruit size 70% to final size stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0025508	"A fruit formation stage (PO:0025501) that spans begins when a fruit (PO:0009001) has reached 70% of its final size and ends when a fruit has reached its final size and a fruit ripening stage (PO:0025502) begins." []	2049688	\N	\N	EFO	4	EFO	developmental stage	fruit size 70% to final size stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0025508	"A fruit formation stage (PO:0025501) that spans begins when a fruit (PO:0009001) has reached 70% of its final size and ends when a fruit has reached its final size and a fruit ripening stage (PO:0025502) begins." []	3199670	\N	\N	EFO	5	EFO	process	fruit size 70% to final size stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025508	"A fruit formation stage (PO:0025501) that spans begins when a fruit (PO:0009001) has reached 70% of its final size and ends when a fruit has reached its final size and a fruit ripening stage (PO:0025502) begins." []	4404782	\N	\N	EFO	6	EFO	experimental factor	fruit size 70% to final size stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025522	\N	\N	"A plant axis (PO:0025004) that is radially enlarged." []	PO:0025522	"A plant axis (PO:0025004) that is radially enlarged." []	79503	\N	\N	EFO	0	EFO	tuber {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	tuber {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025004	\N	\N	"An axial plant organ (PO:0009008)." [POC:curators]	PO:0025522	"A plant axis (PO:0025004) that is radially enlarged." []	195868	\N	TraitNet	EFO	0	EFO	plant axis	tuber {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0025522	\N	"" []	PO:0025522	"A plant axis (PO:0025004) that is radially enlarged." []	224787	\N	\N	EFO	1	EFO	plant component	tuber {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0025522	\N	"An anatomical entity that is or was part of a plant." []	PO:0025522	"A plant axis (PO:0025004) that is radially enlarged." []	224788	\N	\N	EFO	1	EFO	plant anatomical entity	tuber {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025522	"A plant axis (PO:0025004) that is radially enlarged." []	581711	\N	\N	EFO	2	EFO	anatomy basic component	tuber {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025522	"A plant axis (PO:0025004) that is radially enlarged." []	581712	\N	\N	EFO	2	EFO	anatomy basic component	tuber {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025522	"A plant axis (PO:0025004) that is radially enlarged." []	1165755	\N	\N	EFO	3	EFO	organism part	tuber {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025522	"A plant axis (PO:0025004) that is radially enlarged." []	2049689	\N	\N	EFO	4	EFO	material entity	tuber {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025522	"A plant axis (PO:0025004) that is radially enlarged." []	3199671	\N	\N	EFO	5	EFO	experimental factor	tuber {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025585	\N	\N	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	PO:0025585	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	79504	\N	\N	EFO	0	EFO	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025339	\N	\N	"A multi-tissue plant structure development stage (PO:0025571) that has as primary participant a plant organ (PO:0009008) ." [POC:cooperl, POC:curators]	PO:0025585	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	195869	\N	\N	EFO	0	EFO	plant organ development stage	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0025585	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	224789	\N	\N	EFO	1	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0007615	PO:0025585	\N	"A reproductive shoot system development stage (PO:0025530) that occurs in an individual flower (PO:000904) during the interval between the onset of a flower meristem transition stage (PO:0025588) and the end of a flowering stage (PO:0007616)." []	PO:0025585	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	224790	\N	\N	EFO	1	EFO	flower development stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009012	PO:0007615	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0025585	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	581713	\N	\N	EFO	2	EFO	plant structure development stage	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0025585	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	1165756	\N	\N	EFO	3	EFO	developmental stage	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0025585	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	2049690	\N	\N	EFO	4	EFO	process	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025585	"A flower development stage (PO:0007615) that occurs in an individual flower (PO:000904) during the interval between the onset of a floral organ meristem development stage (PO:0007601) and the onset of a flowering stage (PO:0007616)." []	3199672	\N	\N	EFO	5	EFO	experimental factor	floral organ formation stage {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025598	\N	\N	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	79505	\N	\N	EFO	0	EFO	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0025598	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	224791	\N	\N	EFO	1	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0025598	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	224792	\N	\N	EFO	1	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009049	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	581714	\N	\N	EFO	2	EFO	shoot	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009049	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	581715	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	1165757	\N	\N	EFO	3	EFO	plant component	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	1165758	\N	\N	EFO	3	EFO	plant anatomical entity	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	1165759	\N	\N	EFO	3	EFO	plant component	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	1165760	\N	\N	EFO	3	EFO	plant anatomical entity	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	2049691	\N	\N	EFO	4	EFO	anatomy basic component	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	2049692	\N	\N	EFO	4	EFO	anatomy basic component	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	3199673	\N	\N	EFO	5	EFO	organism part	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	4404783	\N	\N	EFO	6	EFO	material entity	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025598	"An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599)." []	5420264	\N	\N	EFO	7	EFO	experimental factor	pistillate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025601	\N	\N	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	79506	\N	\N	EFO	0	EFO	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0025601	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	224793	\N	\N	EFO	1	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009049	PO:0025601	\N	"A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts." []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	224794	\N	\N	EFO	1	EFO	inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000992	PO:0009049	\N	"A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature." []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	581716	\N	\N	EFO	2	EFO	shoot	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009006	PO:0009049	\N	"A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them." []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	581717	\N	\N	EFO	2	EFO	shoot system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	EFO:0000992	\N	"" []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	1165761	\N	\N	EFO	3	EFO	plant component	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	EFO:0000992	\N	"An anatomical entity that is or was part of a plant." []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	1165762	\N	\N	EFO	3	EFO	plant anatomical entity	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009006	\N	"" []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	1165763	\N	\N	EFO	3	EFO	plant component	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009006	\N	"An anatomical entity that is or was part of a plant." []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	1165764	\N	\N	EFO	3	EFO	plant anatomical entity	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	2049693	\N	\N	EFO	4	EFO	anatomy basic component	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	2049694	\N	\N	EFO	4	EFO	anatomy basic component	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	3199674	\N	\N	EFO	5	EFO	organism part	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	4404784	\N	\N	EFO	6	EFO	material entity	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025601	"An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600)." []	5420265	\N	\N	EFO	7	EFO	experimental factor	staminate inflorescence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	\N	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0025606	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	79507	\N	\N	EFO	0	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0025606	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	224795	\N	\N	EFO	1	EFO	plant cell	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0025606	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	224796	\N	\N	EFO	1	EFO	plant cell	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000324	PO:0009002	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	PO:0025606	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	581718	\N	\N	EFO	2	EFO	cell type	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009002	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0025606	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	581719	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025606	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	1165765	\N	\N	EFO	3	EFO	material entity	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0025606	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	1165766	\N	\N	EFO	3	EFO	plant anatomical entity	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025606	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	2049695	\N	\N	EFO	4	EFO	experimental factor	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025615	\N	\N	"A collective leaf structure (PO:0025022) consisting of a group of rosette leaves (PO:0000014), generally borne at the base of the plant, that are separated by very short stem internodes (PO:0020142)." []	PO:0025615	"A collective leaf structure (PO:0025022) consisting of a group of rosette leaves (PO:0000014), generally borne at the base of the plant, that are separated by very short stem internodes (PO:0020142)." []	79508	\N	\N	EFO	0	EFO	rosette {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	rosette {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025022	PO:0025615	\N	"" []	PO:0025615	"A collective leaf structure (PO:0025022) consisting of a group of rosette leaves (PO:0000014), generally borne at the base of the plant, that are separated by very short stem internodes (PO:0020142)." []	224797	\N	\N	EFO	1	EFO	collective leaf structure	rosette {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0025022	\N	"" []	PO:0025615	"A collective leaf structure (PO:0025022) consisting of a group of rosette leaves (PO:0000014), generally borne at the base of the plant, that are separated by very short stem internodes (PO:0020142)." []	581720	\N	\N	EFO	2	EFO	plant component	rosette {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0025022	\N	"An anatomical entity that is or was part of a plant." []	PO:0025615	"A collective leaf structure (PO:0025022) consisting of a group of rosette leaves (PO:0000014), generally borne at the base of the plant, that are separated by very short stem internodes (PO:0020142)." []	581721	\N	\N	EFO	2	EFO	plant anatomical entity	rosette {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0025615	"A collective leaf structure (PO:0025022) consisting of a group of rosette leaves (PO:0000014), generally borne at the base of the plant, that are separated by very short stem internodes (PO:0020142)." []	1165767	\N	\N	EFO	3	EFO	anatomy basic component	rosette {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0025615	"A collective leaf structure (PO:0025022) consisting of a group of rosette leaves (PO:0000014), generally borne at the base of the plant, that are separated by very short stem internodes (PO:0020142)." []	1165768	\N	\N	EFO	3	EFO	anatomy basic component	rosette {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0025615	"A collective leaf structure (PO:0025022) consisting of a group of rosette leaves (PO:0000014), generally borne at the base of the plant, that are separated by very short stem internodes (PO:0020142)." []	2049696	\N	\N	EFO	4	EFO	organism part	rosette {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0025615	"A collective leaf structure (PO:0025022) consisting of a group of rosette leaves (PO:0000014), generally borne at the base of the plant, that are separated by very short stem internodes (PO:0020142)." []	3199675	\N	\N	EFO	5	EFO	material entity	rosette {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0025615	"A collective leaf structure (PO:0025022) consisting of a group of rosette leaves (PO:0000014), generally borne at the base of the plant, that are separated by very short stem internodes (PO:0020142)." []	4404785	\N	\N	EFO	6	EFO	experimental factor	rosette {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0028002	\N	\N	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	PO:0028002	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	79509	\N	\N	EFO	0	EFO	sporophyte development stage	sporophyte development stage
PO:0007033	\N	\N	"A plant structure development stage (PO:0009012) that has as primary participant a whole plant (PO:0000003)." [POC:curators]	PO:0028002	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	195870	\N	TraitNet	EFO	0	EFO	whole plant development stage	sporophyte development stage
PO:0025337	\N	\N	"A maximal whole plant development stage." [POC:curators]	PO:0028002	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	195871	\N	\N	EFO	0	EFO	life of whole plant stage	sporophyte development stage
PO:0009012	PO:0028002	\N	"A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes." []	PO:0028002	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	224798	\N	\N	EFO	1	EFO	plant structure development stage	sporophyte development stage
EFO:0000399	PO:0009012	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	PO:0028002	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	581722	\N	\N	EFO	2	EFO	developmental stage	sporophyte development stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	PO:0028002	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	1165769	\N	\N	EFO	3	EFO	process	sporophyte development stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0028002	"A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death." []	2049697	\N	\N	EFO	4	EFO	experimental factor	sporophyte development stage
PO:0030003	\N	\N	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	PO:0030003	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	79510	\N	\N	EFO	0	EFO	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0005426	\N	\N	"Chloroplast-containing parenchyma tissue." [ISBN:0080374913]	PO:0030003	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	195872	\N	TraitNet	EFO	0	EFO	chlorenchyma	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0030003	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0030003	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	224799	\N	\N	EFO	1	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0030003	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	581723	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0030003	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	1165770	\N	\N	EFO	3	EFO	plant component	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0030003	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	1165771	\N	\N	EFO	3	EFO	plant anatomical entity	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0030003	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	2049698	\N	\N	EFO	4	EFO	anatomy basic component	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0030003	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	2049699	\N	\N	EFO	4	EFO	anatomy basic component	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0030003	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	3199676	\N	\N	EFO	5	EFO	organism part	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0030003	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	4404786	\N	\N	EFO	6	EFO	material entity	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0030003	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	5420266	\N	\N	EFO	7	EFO	experimental factor	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0030004	\N	\N	"A portion of protonema tissue that consists of only chloronema cells." []	PO:0030004	"A portion of protonema tissue that consists of only chloronema cells." []	79511	\N	\N	EFO	0	EFO	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0030003	PO:0030004	\N	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	PO:0030004	"A portion of protonema tissue that consists of only chloronema cells." []	224800	\N	\N	EFO	1	EFO	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0030003	PO:0030004	\N	"A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching." []	PO:0030004	"A portion of protonema tissue that consists of only chloronema cells." []	224801	\N	\N	EFO	1	EFO	protonema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009007	PO:0030003	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0030004	"A portion of protonema tissue that consists of only chloronema cells." []	581724	\N	\N	EFO	2	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009007	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0030004	"A portion of protonema tissue that consists of only chloronema cells." []	1165772	\N	\N	EFO	3	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000789	PO:0009011	\N	"" []	PO:0030004	"A portion of protonema tissue that consists of only chloronema cells." []	2049700	\N	\N	EFO	4	EFO	plant component	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0030004	"A portion of protonema tissue that consists of only chloronema cells." []	2049701	\N	\N	EFO	4	EFO	plant anatomical entity	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000789	\N	"" []	PO:0030004	"A portion of protonema tissue that consists of only chloronema cells." []	3199677	\N	\N	EFO	5	EFO	anatomy basic component	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	PO:0025131	\N	"" []	PO:0030004	"A portion of protonema tissue that consists of only chloronema cells." []	3199678	\N	\N	EFO	5	EFO	anatomy basic component	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0030004	"A portion of protonema tissue that consists of only chloronema cells." []	4404787	\N	\N	EFO	6	EFO	organism part	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0030004	"A portion of protonema tissue that consists of only chloronema cells." []	5420267	\N	\N	EFO	7	EFO	material entity	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0030004	"A portion of protonema tissue that consists of only chloronema cells." []	6154154	\N	\N	EFO	8	EFO	experimental factor	chloronema {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0030007	\N	\N	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	PO:0030007	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	79512	\N	\N	EFO	0	EFO	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0004010	PO:0030007	\N	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	PO:0030007	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	224802	\N	\N	EFO	1	EFO	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0004010	PO:0030007	\N	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	PO:0030007	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	224803	\N	\N	EFO	1	EFO	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0004010	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0030007	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	581725	\N	\N	EFO	2	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0004010	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0030007	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	581726	\N	\N	EFO	2	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0030007	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	1165773	\N	\N	EFO	3	EFO	plant cell	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0030007	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	1165774	\N	\N	EFO	3	EFO	plant cell	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000324	PO:0009002	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	PO:0030007	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	2049702	\N	\N	EFO	4	EFO	cell type	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009002	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0030007	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	2049703	\N	\N	EFO	4	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0030007	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	3199679	\N	\N	EFO	5	EFO	material entity	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0030007	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	3199680	\N	\N	EFO	5	EFO	plant anatomical entity	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0030007	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	4404788	\N	\N	EFO	6	EFO	experimental factor	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0030014	\N	\N	"An apical cell that is part of a whole plant in the gametophytic phase." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	79513	\N	\N	EFO	0	EFO	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0030007	PO:0030014	\N	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	224804	\N	\N	EFO	1	EFO	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0030007	PO:0030014	\N	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	224805	\N	\N	EFO	1	EFO	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0004010	PO:0030007	\N	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	581727	\N	\N	EFO	2	EFO	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0004010	PO:0030007	\N	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	581728	\N	\N	EFO	2	EFO	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0004010	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	1165775	\N	\N	EFO	3	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0004010	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	1165776	\N	\N	EFO	3	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	2049704	\N	\N	EFO	4	EFO	plant cell	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	2049705	\N	\N	EFO	4	EFO	plant cell	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000324	PO:0009002	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	3199681	\N	\N	EFO	5	EFO	cell type	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009002	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	3199682	\N	\N	EFO	5	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	4404789	\N	\N	EFO	6	EFO	material entity	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	4404790	\N	\N	EFO	6	EFO	plant anatomical entity	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0030014	"An apical cell that is part of a whole plant in the gametophytic phase." []	5420268	\N	\N	EFO	7	EFO	experimental factor	gametophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0030015	\N	\N	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	79514	\N	\N	EFO	0	EFO	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0030007	PO:0030015	\N	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	224806	\N	\N	EFO	1	EFO	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0030007	PO:0030015	\N	"A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	224807	\N	\N	EFO	1	EFO	meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0004010	PO:0030007	\N	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	581729	\N	\N	EFO	2	EFO	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0004010	PO:0030007	\N	"A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	581730	\N	\N	EFO	2	EFO	meristematic cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0004010	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	1165777	\N	\N	EFO	3	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025606	PO:0004010	\N	"A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	1165778	\N	\N	EFO	3	EFO	native plant cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	2049706	\N	\N	EFO	4	EFO	plant cell	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009002	PO:0025606	\N	"A cell which is a plant structure (PO:0009011)." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	2049707	\N	\N	EFO	4	EFO	plant cell	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000324	PO:0009002	\N	"A cell type is a distinct morphological or functional form of cell.  Examples are epithelial, glial etc." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	3199683	\N	\N	EFO	5	EFO	cell type	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0009011	PO:0009002	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	3199684	\N	\N	EFO	5	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000324	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	4404791	\N	\N	EFO	6	EFO	material entity	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	4404792	\N	\N	EFO	6	EFO	plant anatomical entity	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0030015	"A meristematic apical cell that is part of a whole plant in the sporophytic phase." []	5420269	\N	\N	EFO	7	EFO	experimental factor	sporophyte meristematic apical cell {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
PO:0030027	\N	\N	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	PO:0030027	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	79515	\N	\N	EFO	0	EFO	thallus	thallus
EFO:0000988	PO:0030027	\N	"The individual or generation of a plant exhibiting alternation of generations that bears sex organs." []	PO:0030027	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	224808	\N	\N	EFO	1	EFO	gametophyte	thallus
PO:0000003	PO:0030027	\N	"A plant structure (PO:0005679) which is a whole organism." []	PO:0030027	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	224809	\N	\N	EFO	1	EFO	whole plant {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	thallus
EFO:0000789	EFO:0000988	\N	"" []	PO:0030027	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	581731	\N	\N	EFO	2	EFO	plant component	thallus
PO:0025131	EFO:0000988	\N	"An anatomical entity that is or was part of a plant." []	PO:0030027	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	581732	\N	\N	EFO	2	EFO	plant anatomical entity	thallus
PO:0009011	PO:0000003	\N	"An anatomical structure that is or was part of a plant, or was derived from a part of a plant." []	PO:0030027	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	581733	\N	\N	EFO	2	EFO	plant structure {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	thallus
EFO:0000786	EFO:0000789	\N	"" []	PO:0030027	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	1165779	\N	\N	EFO	3	EFO	anatomy basic component	thallus
EFO:0000786	PO:0025131	\N	"" []	PO:0030027	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	1165780	\N	\N	EFO	3	EFO	anatomy basic component	thallus
PO:0025131	PO:0009011	\N	"An anatomical entity that is or was part of a plant." []	PO:0030027	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	1165781	\N	\N	EFO	3	EFO	plant anatomical entity	thallus
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	PO:0030027	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	2049708	\N	\N	EFO	4	EFO	organism part	thallus
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PO:0030027	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	3199685	\N	\N	EFO	5	EFO	material entity	thallus
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PO:0030027	"a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves" []	4404793	\N	\N	EFO	6	EFO	experimental factor	thallus
PR:000003918	\N	\N	"A protein that is a translation product of the human ALB gene or a 1:1 ortholog thereof. Serum albumin is produced by the liver, occurs dissolved in blood plasma and is the most abundant blood protein in mammals." []	PR:000003918	"A protein that is a translation product of the human ALB gene or a 1:1 ortholog thereof. Serum albumin is produced by the liver, occurs dissolved in blood plasma and is the most abundant blood protein in mammals." []	79516	\N	\N	EFO	0	EFO	serum albumin	serum albumin
CHEBI:36080	PR:000003918	\N	"A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form." []	PR:000003918	"A protein that is a translation product of the human ALB gene or a 1:1 ortholog thereof. Serum albumin is produced by the liver, occurs dissolved in blood plasma and is the most abundant blood protein in mammals." []	224810	\N	\N	EFO	1	EFO	protein	serum albumin
CHEBI:37577	CHEBI:36080	\N	"A molecular entity consisting of two or more chemical elements." []	PR:000003918	"A protein that is a translation product of the human ALB gene or a 1:1 ortholog thereof. Serum albumin is produced by the liver, occurs dissolved in blood plasma and is the most abundant blood protein in mammals." []	581734	\N	\N	EFO	2	EFO	chemical compound	serum albumin
CHEBI:24431	CHEBI:37577	\N	"" []	PR:000003918	"A protein that is a translation product of the human ALB gene or a 1:1 ortholog thereof. Serum albumin is produced by the liver, occurs dissolved in blood plasma and is the most abundant blood protein in mammals." []	1165782	\N	\N	EFO	3	EFO	chemical entity	serum albumin
BFO:0000040	CHEBI:24431	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	PR:000003918	"A protein that is a translation product of the human ALB gene or a 1:1 ortholog thereof. Serum albumin is produced by the liver, occurs dissolved in blood plasma and is the most abundant blood protein in mammals." []	2049709	\N	\N	EFO	4	EFO	material entity	serum albumin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	PR:000003918	"A protein that is a translation product of the human ALB gene or a 1:1 ortholog thereof. Serum albumin is produced by the liver, occurs dissolved in blood plasma and is the most abundant blood protein in mammals." []	3199686	\N	\N	EFO	5	EFO	experimental factor	serum albumin
TO:0000259	\N	\N	"Tolerance to warm temperatures if plant is exposed to above than permissive temperature limits. Observe differences in vigor along with subtle changes in leaf color. The optimum time to make observations would be the seedling, tillering (sensu Poaceae), flowering and mature stages. Mainly scored in terms of spikelet fertility in grasses." []	TO:0000259	"Tolerance to warm temperatures if plant is exposed to above than permissive temperature limits. Observe differences in vigor along with subtle changes in leaf color. The optimum time to make observations would be the seedling, tillering (sensu Poaceae), flowering and mature stages. Mainly scored in terms of spikelet fertility in grasses." []	79517	\N	\N	EFO	0	EFO	heat tolerance	heat tolerance
TO:0000432	\N	\N	"Response by the plant in terms of sensitivity to temperature stress." [GR:pj]	TO:0000259	"Tolerance to warm temperatures if plant is exposed to above than permissive temperature limits. Observe differences in vigor along with subtle changes in leaf color. The optimum time to make observations would be the seedling, tillering (sensu Poaceae), flowering and mature stages. Mainly scored in terms of spikelet fertility in grasses." []	195873	\N	\N	EFO	0	EFO	temperature response trait	heat tolerance
TO:0000387	TO:0000259	\N	"A measurable or observable characteristic of a cellular component (GO:0005575), biological process (GO:0008150) or molecular function (GO:0003674) that is part of, or has participant a plant anatomical entity (PO:0025131) and/or a plant structure development stage (PO:0009012)." []	TO:0000259	"Tolerance to warm temperatures if plant is exposed to above than permissive temperature limits. Observe differences in vigor along with subtle changes in leaf color. The optimum time to make observations would be the seedling, tillering (sensu Poaceae), flowering and mature stages. Mainly scored in terms of spikelet fertility in grasses." []	224811	\N	\N	EFO	1	EFO	plant trait	heat tolerance
BFO:0000019	TO:0000387	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	TO:0000259	"Tolerance to warm temperatures if plant is exposed to above than permissive temperature limits. Observe differences in vigor along with subtle changes in leaf color. The optimum time to make observations would be the seedling, tillering (sensu Poaceae), flowering and mature stages. Mainly scored in terms of spikelet fertility in grasses." []	581735	\N	\N	EFO	2	EFO	quality	heat tolerance
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	TO:0000259	"Tolerance to warm temperatures if plant is exposed to above than permissive temperature limits. Observe differences in vigor along with subtle changes in leaf color. The optimum time to make observations would be the seedling, tillering (sensu Poaceae), flowering and mature stages. Mainly scored in terms of spikelet fertility in grasses." []	1165783	\N	\N	EFO	3	EFO	material property	heat tolerance
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	TO:0000259	"Tolerance to warm temperatures if plant is exposed to above than permissive temperature limits. Observe differences in vigor along with subtle changes in leaf color. The optimum time to make observations would be the seedling, tillering (sensu Poaceae), flowering and mature stages. Mainly scored in terms of spikelet fertility in grasses." []	2049710	\N	\N	EFO	4	EFO	experimental factor	heat tolerance
TO:0000387	\N	\N	"A measurable or observable characteristic of a cellular component (GO:0005575), biological process (GO:0008150) or molecular function (GO:0003674) that is part of, or has participant a plant anatomical entity (PO:0025131) and/or a plant structure development stage (PO:0009012)." []	TO:0000387	"A measurable or observable characteristic of a cellular component (GO:0005575), biological process (GO:0008150) or molecular function (GO:0003674) that is part of, or has participant a plant anatomical entity (PO:0025131) and/or a plant structure development stage (PO:0009012)." []	79518	\N	\N	EFO	0	EFO	plant trait	plant trait
BFO:0000019	TO:0000387	\N	"A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee" []	TO:0000387	"A measurable or observable characteristic of a cellular component (GO:0005575), biological process (GO:0008150) or molecular function (GO:0003674) that is part of, or has participant a plant anatomical entity (PO:0025131) and/or a plant structure development stage (PO:0009012)." []	224812	\N	\N	EFO	1	EFO	quality	plant trait
BFO:0000020	BFO:0000019	\N	"An experimental factor which is a property or characteristic of some other entity.  For example, the mouse has the colour white." []	TO:0000387	"A measurable or observable characteristic of a cellular component (GO:0005575), biological process (GO:0008150) or molecular function (GO:0003674) that is part of, or has participant a plant anatomical entity (PO:0025131) and/or a plant structure development stage (PO:0009012)." []	581736	\N	\N	EFO	2	EFO	material property	plant trait
EFO:0000001	BFO:0000020	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	TO:0000387	"A measurable or observable characteristic of a cellular component (GO:0005575), biological process (GO:0008150) or molecular function (GO:0003674) that is part of, or has participant a plant anatomical entity (PO:0025131) and/or a plant structure development stage (PO:0009012)." []	1165784	\N	\N	EFO	3	EFO	experimental factor	plant trait
UBERON:0000004	\N	\N	"the organ that is specialized for smell and is part of the respiratory system [database_cross_reference: MP:0002233,MESH:A01.456.505.733,MGI:cwg]" []	UBERON:0000004	"the organ that is specialized for smell and is part of the respiratory system [database_cross_reference: MP:0002233,MESH:A01.456.505.733,MGI:cwg]" []	79520	\N	\N	EFO	0	EFO	olfactory apparatus	olfactory apparatus
UBERON:0001032	\N	\N	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	UBERON:0000004	"the organ that is specialized for smell and is part of the respiratory system [database_cross_reference: MP:0002233,MESH:A01.456.505.733,MGI:cwg]" []	195875	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	sensory system	olfactory apparatus
EFO:0000792	UBERON:0000004	\N	"The larval cranium exclusive of the dorsal apotome." []	UBERON:0000004	"the organ that is specialized for smell and is part of the respiratory system [database_cross_reference: MP:0002233,MESH:A01.456.505.733,MGI:cwg]" []	224813	\N	\N	EFO	1	EFO	craniofacial tissue	olfactory apparatus
EFO:0000787	EFO:0000792	\N	"" []	UBERON:0000004	"the organ that is specialized for smell and is part of the respiratory system [database_cross_reference: MP:0002233,MESH:A01.456.505.733,MGI:cwg]" []	581737	\N	\N	EFO	2	EFO	animal component	olfactory apparatus
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000004	"the organ that is specialized for smell and is part of the respiratory system [database_cross_reference: MP:0002233,MESH:A01.456.505.733,MGI:cwg]" []	1165785	\N	\N	EFO	3	EFO	anatomy basic component	olfactory apparatus
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000004	"the organ that is specialized for smell and is part of the respiratory system [database_cross_reference: MP:0002233,MESH:A01.456.505.733,MGI:cwg]" []	2049711	\N	\N	EFO	4	EFO	organism part	olfactory apparatus
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000004	"the organ that is specialized for smell and is part of the respiratory system [database_cross_reference: MP:0002233,MESH:A01.456.505.733,MGI:cwg]" []	3199687	\N	\N	EFO	5	EFO	material entity	olfactory apparatus
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000004	"the organ that is specialized for smell and is part of the respiratory system [database_cross_reference: MP:0002233,MESH:A01.456.505.733,MGI:cwg]" []	4404794	\N	\N	EFO	6	EFO	experimental factor	olfactory apparatus
UBERON:0000014	\N	\N	"The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers." []	UBERON:0000014	"The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers." []	79526	\N	\N	EFO	0	EFO	zone of skin {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	zone of skin {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000787	UBERON:0000014	\N	"" []	UBERON:0000014	"The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers." []	224814	\N	\N	EFO	1	EFO	animal component	zone of skin {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000014	"The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers." []	581738	\N	\N	EFO	2	EFO	anatomy basic component	zone of skin {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000014	"The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers." []	1165786	\N	\N	EFO	3	EFO	organism part	zone of skin {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000014	"The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers." []	2049712	\N	\N	EFO	4	EFO	material entity	zone of skin {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000014	"The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers." []	3199688	\N	\N	EFO	5	EFO	experimental factor	zone of skin {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000089	\N	\N	"A primary germ layer that can give rise to both mesoderm and endoderm. The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm. Kimmel et al, 1995." []	UBERON:0000089	"A primary germ layer that can give rise to both mesoderm and endoderm. The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm. Kimmel et al, 1995." []	79544	\N	\N	EFO	0	EFO	hypoblast (generic) {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	hypoblast (generic) {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0000089	"A primary germ layer that can give rise to both mesoderm and endoderm. The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm. Kimmel et al, 1995." []	195895	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	hypoblast (generic) {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000115	\N	\N	"The epithelial layer of the lung. [ MP:0006382 ]" []	UBERON:0000115	"The epithelial layer of the lung. [ MP:0006382 ]" []	79549	\N	\N	EFO	0	EFO	lung epithelium	lung epithelium
UBERON:0000483	UBERON:0000115	\N	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	UBERON:0000115	"The epithelial layer of the lung. [ MP:0006382 ]" []	224815	\N	\N	EFO	1	EFO	epithelium	lung epithelium
EFO:0000787	UBERON:0000483	\N	"" []	UBERON:0000115	"The epithelial layer of the lung. [ MP:0006382 ]" []	581739	\N	\N	EFO	2	EFO	animal component	lung epithelium
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000115	"The epithelial layer of the lung. [ MP:0006382 ]" []	1165787	\N	\N	EFO	3	EFO	anatomy basic component	lung epithelium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000115	"The epithelial layer of the lung. [ MP:0006382 ]" []	2049713	\N	\N	EFO	4	EFO	organism part	lung epithelium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000115	"The epithelial layer of the lung. [ MP:0006382 ]" []	3199689	\N	\N	EFO	5	EFO	material entity	lung epithelium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000115	"The epithelial layer of the lung. [ MP:0006382 ]" []	4404795	\N	\N	EFO	6	EFO	experimental factor	lung epithelium
UBERON:0000174	\N	\N	"Excreta are bodily fluids consisting of waste matter, such as sweat or feces, discharged from the body." []	UBERON:0000174	"Excreta are bodily fluids consisting of waste matter, such as sweat or feces, discharged from the body." []	79554	\N	\N	EFO	0	EFO	excreta	excreta
EFO:0000787	UBERON:0000174	\N	"" []	UBERON:0000174	"Excreta are bodily fluids consisting of waste matter, such as sweat or feces, discharged from the body." []	224816	\N	\N	EFO	1	EFO	animal component	excreta
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000174	"Excreta are bodily fluids consisting of waste matter, such as sweat or feces, discharged from the body." []	581740	\N	\N	EFO	2	EFO	anatomy basic component	excreta
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000174	"Excreta are bodily fluids consisting of waste matter, such as sweat or feces, discharged from the body." []	1165788	\N	\N	EFO	3	EFO	organism part	excreta
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000174	"Excreta are bodily fluids consisting of waste matter, such as sweat or feces, discharged from the body." []	2049714	\N	\N	EFO	4	EFO	material entity	excreta
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000174	"Excreta are bodily fluids consisting of waste matter, such as sweat or feces, discharged from the body." []	3199690	\N	\N	EFO	5	EFO	experimental factor	excreta
UBERON:0000203	\N	\N	"Brain structure which is the dorsal part of the telencephalon, most of which is developmentally everted such that the ependymal lining of the unpaired median ventricle becomes located at the apparent periphery of the telencephalon. From Neuroanatomy of the Zebrafish Brain." []	UBERON:0000203	"Brain structure which is the dorsal part of the telencephalon, most of which is developmentally everted such that the ependymal lining of the unpaired median ventricle becomes located at the apparent periphery of the telencephalon. From Neuroanatomy of the Zebrafish Brain." []	79556	\N	\N	EFO	0	EFO	dorsal telencephalon	dorsal telencephalon
EFO:0003331	UBERON:0000203	\N	"" []	UBERON:0000203	"Brain structure which is the dorsal part of the telencephalon, most of which is developmentally everted such that the ependymal lining of the unpaired median ventricle becomes located at the apparent periphery of the telencephalon. From Neuroanatomy of the Zebrafish Brain." []	224817	\N	\N	EFO	1	EFO	zebrafish component	dorsal telencephalon
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0000203	"Brain structure which is the dorsal part of the telencephalon, most of which is developmentally everted such that the ependymal lining of the unpaired median ventricle becomes located at the apparent periphery of the telencephalon. From Neuroanatomy of the Zebrafish Brain." []	581741	\N	\N	EFO	2	EFO	animal component	dorsal telencephalon
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000203	"Brain structure which is the dorsal part of the telencephalon, most of which is developmentally everted such that the ependymal lining of the unpaired median ventricle becomes located at the apparent periphery of the telencephalon. From Neuroanatomy of the Zebrafish Brain." []	1165789	\N	\N	EFO	3	EFO	anatomy basic component	dorsal telencephalon
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000203	"Brain structure which is the dorsal part of the telencephalon, most of which is developmentally everted such that the ependymal lining of the unpaired median ventricle becomes located at the apparent periphery of the telencephalon. From Neuroanatomy of the Zebrafish Brain." []	2049715	\N	\N	EFO	4	EFO	organism part	dorsal telencephalon
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000203	"Brain structure which is the dorsal part of the telencephalon, most of which is developmentally everted such that the ependymal lining of the unpaired median ventricle becomes located at the apparent periphery of the telencephalon. From Neuroanatomy of the Zebrafish Brain." []	3199691	\N	\N	EFO	5	EFO	material entity	dorsal telencephalon
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000203	"Brain structure which is the dorsal part of the telencephalon, most of which is developmentally everted such that the ependymal lining of the unpaired median ventricle becomes located at the apparent periphery of the telencephalon. From Neuroanatomy of the Zebrafish Brain." []	4404796	\N	\N	EFO	6	EFO	experimental factor	dorsal telencephalon
UBERON:0000204	\N	\N	"Dorsal part (base region) of the telencephalon." []	UBERON:0000204	"Dorsal part (base region) of the telencephalon." []	79557	\N	\N	EFO	0	EFO	ventral part of telencephalon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	ventral part of telencephalon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001893	\N	\N	"Organ component of neuraxis that has as its parts the cerebral cortex, cerebral white matter, basal ganglia, septum and fornix, as well as subcortical gray and white matter structures[FMA]." [FMA:62000, Wikipedia:Telencephalon]	UBERON:0000204	"Dorsal part (base region) of the telencephalon." []	195908	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	telencephalon	ventral part of telencephalon {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000310	\N	efo_slim,uberon_slim	"The breast is the upper ventral region of an animal's torso, particularly that of mammals, including human beings. The breasts of a female primates body contain the mammary glands, which secrete milk used to feed infants. Both men and women develop breasts from the same embryological tissues. However, at puberty female sex hormones, mainly estrogens, promote breast development, which does not happen with men. As a result women's breasts become more prominent than men's" []	UBERON:0000310	"The breast is the upper ventral region of an animal's torso, particularly that of mammals, including human beings. The breasts of a female primates body contain the mammary glands, which secrete milk used to feed infants. Both men and women develop breasts from the same embryological tissues. However, at puberty female sex hormones, mainly estrogens, promote breast development, which does not happen with men. As a result women's breasts become more prominent than men's" []	79559	\N	efo_slim,uberon_slim	EFO	0	EFO	breast	breast
EFO:0000787	UBERON:0000310	efo_slim,uberon_slim	"" []	UBERON:0000310	"The breast is the upper ventral region of an animal's torso, particularly that of mammals, including human beings. The breasts of a female primates body contain the mammary glands, which secrete milk used to feed infants. Both men and women develop breasts from the same embryological tissues. However, at puberty female sex hormones, mainly estrogens, promote breast development, which does not happen with men. As a result women's breasts become more prominent than men's" []	224818	efo_slim,uberon_slim	\N	EFO	1	EFO	animal component	breast
EFO:0000786	EFO:0000787	efo_slim,uberon_slim	"" []	UBERON:0000310	"The breast is the upper ventral region of an animal's torso, particularly that of mammals, including human beings. The breasts of a female primates body contain the mammary glands, which secrete milk used to feed infants. Both men and women develop breasts from the same embryological tissues. However, at puberty female sex hormones, mainly estrogens, promote breast development, which does not happen with men. As a result women's breasts become more prominent than men's" []	581742	\N	\N	EFO	2	EFO	anatomy basic component	breast
EFO:0000635	EFO:0000786	efo_slim,uberon_slim	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000310	"The breast is the upper ventral region of an animal's torso, particularly that of mammals, including human beings. The breasts of a female primates body contain the mammary glands, which secrete milk used to feed infants. Both men and women develop breasts from the same embryological tissues. However, at puberty female sex hormones, mainly estrogens, promote breast development, which does not happen with men. As a result women's breasts become more prominent than men's" []	1165790	\N	\N	EFO	3	EFO	organism part	breast
BFO:0000040	EFO:0000635	efo_slim,uberon_slim	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000310	"The breast is the upper ventral region of an animal's torso, particularly that of mammals, including human beings. The breasts of a female primates body contain the mammary glands, which secrete milk used to feed infants. Both men and women develop breasts from the same embryological tissues. However, at puberty female sex hormones, mainly estrogens, promote breast development, which does not happen with men. As a result women's breasts become more prominent than men's" []	2049716	\N	\N	EFO	4	EFO	material entity	breast
EFO:0000001	BFO:0000040	efo_slim,uberon_slim	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000310	"The breast is the upper ventral region of an animal's torso, particularly that of mammals, including human beings. The breasts of a female primates body contain the mammary glands, which secrete milk used to feed infants. Both men and women develop breasts from the same embryological tissues. However, at puberty female sex hormones, mainly estrogens, promote breast development, which does not happen with men. As a result women's breasts become more prominent than men's" []	3199692	\N	\N	EFO	5	EFO	experimental factor	breast
UBERON:0000376	\N	\N	"1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone.n2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured." []	UBERON:0000376	"1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone.n2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured." []	79567	\N	\N	EFO	0	EFO	thigh	thigh
EFO:0000808	UBERON:0000376	\N	"Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum." []	UBERON:0000376	"1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone.n2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured." []	224819	\N	\N	EFO	1	EFO	animal body part	thigh
EFO:0000787	EFO:0000808	\N	"" []	UBERON:0000376	"1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone.n2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured." []	581743	\N	\N	EFO	2	EFO	animal component	thigh
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000376	"1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone.n2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured." []	1165791	\N	\N	EFO	3	EFO	anatomy basic component	thigh
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000376	"1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone.n2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured." []	2049717	\N	\N	EFO	4	EFO	organism part	thigh
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000376	"1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone.n2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured." []	3199693	\N	\N	EFO	5	EFO	material entity	thigh
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000376	"1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone.n2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured." []	4404797	\N	\N	EFO	6	EFO	experimental factor	thigh
UBERON:0000446	\N	\N	"Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996)." []	UBERON:0000446	"Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996)." []	79572	\N	\N	EFO	0	EFO	septum of telencephalon	septum of telencephalon
EFO:0000787	UBERON:0000446	\N	"" []	UBERON:0000446	"Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996)." []	224820	\N	\N	EFO	1	EFO	animal component	septum of telencephalon
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000446	"Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996)." []	581744	\N	\N	EFO	2	EFO	anatomy basic component	septum of telencephalon
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000446	"Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996)." []	1165792	\N	\N	EFO	3	EFO	organism part	septum of telencephalon
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000446	"Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996)." []	2049718	\N	\N	EFO	4	EFO	material entity	septum of telencephalon
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000446	"Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996)." []	3199694	\N	\N	EFO	5	EFO	experimental factor	septum of telencephalon
UBERON:0000467	\N	\N	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0000467	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	79575	\N	\N	EFO	0	EFO	anatomical system	anatomical system
EFO:0000787	UBERON:0000467	\N	"" []	UBERON:0000467	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	224821	\N	\N	EFO	1	EFO	animal component	anatomical system
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000467	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	581745	\N	\N	EFO	2	EFO	anatomy basic component	anatomical system
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000467	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	1165793	\N	\N	EFO	3	EFO	organism part	anatomical system
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000467	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	2049719	\N	\N	EFO	4	EFO	material entity	anatomical system
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000467	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	3199695	\N	\N	EFO	5	EFO	experimental factor	anatomical system
UBERON:0000468	\N	\N	"" []	UBERON:0000468	"" []	79576	\N	\N	EFO	0	EFO	whole organism	whole organism
EFO:0000635	UBERON:0000468	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000468	"" []	224822	\N	\N	EFO	1	EFO	organism part	whole organism
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000468	"" []	581746	\N	\N	EFO	2	EFO	material entity	whole organism
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000468	"" []	1165794	\N	\N	EFO	3	EFO	experimental factor	whole organism
UBERON:0000483	\N	\N	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	UBERON:0000483	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	79579	\N	\N	EFO	0	EFO	epithelium	epithelium
EFO:0000787	UBERON:0000483	\N	"" []	UBERON:0000483	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	224823	\N	\N	EFO	1	EFO	animal component	epithelium
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000483	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	581747	\N	\N	EFO	2	EFO	anatomy basic component	epithelium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000483	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	1165795	\N	\N	EFO	3	EFO	organism part	epithelium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000483	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	2049720	\N	\N	EFO	4	EFO	material entity	epithelium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000483	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	3199696	\N	\N	EFO	5	EFO	experimental factor	epithelium
UBERON:0000914	\N	\N	"One of the repeated divisions of the whole organism." []	UBERON:0000914	"One of the repeated divisions of the whole organism." []	79580	\N	\N	EFO	0	EFO	organismal segment	organismal segment
EFO:0000787	UBERON:0000914	\N	"" []	UBERON:0000914	"One of the repeated divisions of the whole organism." []	224824	\N	\N	EFO	1	EFO	animal component	organismal segment
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000914	"One of the repeated divisions of the whole organism." []	581748	\N	\N	EFO	2	EFO	anatomy basic component	organismal segment
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000914	"One of the repeated divisions of the whole organism." []	1165796	\N	\N	EFO	3	EFO	organism part	organismal segment
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000914	"One of the repeated divisions of the whole organism." []	2049721	\N	\N	EFO	4	EFO	material entity	organismal segment
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000914	"One of the repeated divisions of the whole organism." []	3199697	\N	\N	EFO	5	EFO	experimental factor	organismal segment
UBERON:0000915	\N	\N	"Subdivision of trunk that lies between the head and the abdomen. [ http://orcid.org/0000-0002-6601-2165 ] " []	UBERON:0000915	"Subdivision of trunk that lies between the head and the abdomen. [ http://orcid.org/0000-0002-6601-2165 ] " []	79581	\N	\N	EFO	0	EFO	thoracic segment of trunk	thoracic segment of trunk
EFO:0000787	UBERON:0000915	\N	"" []	UBERON:0000915	"Subdivision of trunk that lies between the head and the abdomen. [ http://orcid.org/0000-0002-6601-2165 ] " []	224825	\N	\N	EFO	1	EFO	animal component	thoracic segment of trunk
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000915	"Subdivision of trunk that lies between the head and the abdomen. [ http://orcid.org/0000-0002-6601-2165 ] " []	581749	\N	\N	EFO	2	EFO	anatomy basic component	thoracic segment of trunk
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000915	"Subdivision of trunk that lies between the head and the abdomen. [ http://orcid.org/0000-0002-6601-2165 ] " []	1165797	\N	\N	EFO	3	EFO	organism part	thoracic segment of trunk
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000915	"Subdivision of trunk that lies between the head and the abdomen. [ http://orcid.org/0000-0002-6601-2165 ] " []	2049722	\N	\N	EFO	4	EFO	material entity	thoracic segment of trunk
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000915	"Subdivision of trunk that lies between the head and the abdomen. [ http://orcid.org/0000-0002-6601-2165 ] " []	3199698	\N	\N	EFO	5	EFO	experimental factor	thoracic segment of trunk
UBERON:0000933	\N	\N	"" []	UBERON:0000933	"" []	79588	\N	\N	EFO	0	EFO	branchial muscle	branchial muscle
EFO:0003331	UBERON:0000933	\N	"" []	UBERON:0000933	"" []	224826	\N	\N	EFO	1	EFO	zebrafish component	branchial muscle
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0000933	"" []	581750	\N	\N	EFO	2	EFO	animal component	branchial muscle
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000933	"" []	1165798	\N	\N	EFO	3	EFO	anatomy basic component	branchial muscle
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000933	"" []	2049723	\N	\N	EFO	4	EFO	organism part	branchial muscle
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000933	"" []	3199699	\N	\N	EFO	5	EFO	material entity	branchial muscle
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000933	"" []	4404798	\N	\N	EFO	6	EFO	experimental factor	branchial muscle
UBERON:0000978	\N	\N	"One of the two lower extremities in humans used for locomotion and support." []	UBERON:0000978	"One of the two lower extremities in humans used for locomotion and support." []	79604	\N	\N	EFO	0	EFO	leg	leg
UBERON:0002101	\N	\N	"A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts." [UBERONREF:0000003]	UBERON:0000978	"One of the two lower extremities in humans used for locomotion and support." []	195935	\N	efo_slim,uberon_slim	EFO	0	EFO	limb	leg
UBERON:0000982	\N	\N	"The point of contact between elements of an animal skeleton with the parts that surround and support it." []	UBERON:0000982	"The point of contact between elements of an animal skeleton with the parts that surround and support it." []	79607	\N	\N	EFO	0	EFO	skeletal joint	skeletal joint
EFO:0003858	UBERON:0000982	\N	"" []	UBERON:0000982	"The point of contact between elements of an animal skeleton with the parts that surround and support it." []	224827	\N	\N	EFO	1	EFO	skeleton structure	skeletal joint
EFO:0000787	EFO:0003858	\N	"" []	UBERON:0000982	"The point of contact between elements of an animal skeleton with the parts that surround and support it." []	581751	\N	\N	EFO	2	EFO	animal component	skeletal joint
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000982	"The point of contact between elements of an animal skeleton with the parts that surround and support it." []	1165799	\N	\N	EFO	3	EFO	anatomy basic component	skeletal joint
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000982	"The point of contact between elements of an animal skeleton with the parts that surround and support it." []	2049724	\N	\N	EFO	4	EFO	organism part	skeletal joint
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000982	"The point of contact between elements of an animal skeleton with the parts that surround and support it." []	3199700	\N	\N	EFO	5	EFO	material entity	skeletal joint
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000982	"The point of contact between elements of an animal skeleton with the parts that surround and support it." []	4404799	\N	\N	EFO	6	EFO	experimental factor	skeletal joint
UBERON:0000991	\N	\N	"Reproductive organ that produces and releases eggs (ovary) or sperm (testis)." []	UBERON:0000991	"Reproductive organ that produces and releases eggs (ovary) or sperm (testis)." []	79612	\N	\N	EFO	0	EFO	gonad {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	gonad {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000990	\N	\N	"Anatomical system that has as its parts the organs concerned with reproduction." [Wikipedia:Reproductive_system]	UBERON:0000991	"Reproductive organ that produces and releases eggs (ovary) or sperm (testis)." []	195940	\N	efo_slim,functional_classification,uberon_slim,vertebrate_core	EFO	0	EFO	reproductive system	gonad {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000992	\N	\N	"Female reproductive organ." []	UBERON:0000992	"Female reproductive organ." []	79613	\N	\N	EFO	0	EFO	female gonad	female gonad
UBERON:0000474	\N	\N	"The organs of the female reproductive system." [Wikipedia:Female_genitalia]	UBERON:0000992	"Female reproductive organ." []	195941	\N	efo_slim,uberon_slim	EFO	0	EFO	female reproductive system	female gonad
UBERON:0000991	UBERON:0000992	\N	"Reproductive organ that produces and releases eggs (ovary) or sperm (testis)." []	UBERON:0000992	"Female reproductive organ." []	224828	\N	\N	EFO	1	EFO	gonad {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	female gonad
UBERON:0000997	\N	\N	"The external female genital organs, including the clitoris, vaginal lips, and the opening to the vagina." []	UBERON:0000997	"The external female genital organs, including the clitoris, vaginal lips, and the opening to the vagina." []	79618	\N	\N	EFO	0	EFO	mammalian vulva	mammalian vulva
EFO:0000787	UBERON:0000997	\N	"" []	UBERON:0000997	"The external female genital organs, including the clitoris, vaginal lips, and the opening to the vagina." []	224829	\N	\N	EFO	1	EFO	animal component	mammalian vulva
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0000997	"The external female genital organs, including the clitoris, vaginal lips, and the opening to the vagina." []	581752	\N	\N	EFO	2	EFO	anatomy basic component	mammalian vulva
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0000997	"The external female genital organs, including the clitoris, vaginal lips, and the opening to the vagina." []	1165800	\N	\N	EFO	3	EFO	organism part	mammalian vulva
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0000997	"The external female genital organs, including the clitoris, vaginal lips, and the opening to the vagina." []	2049725	\N	\N	EFO	4	EFO	material entity	mammalian vulva
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0000997	"The external female genital organs, including the clitoris, vaginal lips, and the opening to the vagina." []	3199701	\N	\N	EFO	5	EFO	experimental factor	mammalian vulva
UBERON:0001008	\N	\N	"" []	UBERON:0001008	"" []	79626	\N	\N	EFO	0	EFO	renal system	renal system
UBERON:0004122	\N	\N	"Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction." [VHOG:0000286]	UBERON:0001008	"" []	195952	\N	efo_slim	EFO	0	EFO	genitourinary system	renal system
UBERON:0001009	\N	\N	"Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." []	UBERON:0001009	"Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." []	79627	\N	\N	EFO	0	EFO	circulatory system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	circulatory system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000467	UBERON:0001009	\N	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0001009	"Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." []	224830	\N	\N	EFO	1	EFO	anatomical system	circulatory system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000787	UBERON:0000467	\N	"" []	UBERON:0001009	"Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." []	581753	\N	\N	EFO	2	EFO	animal component	circulatory system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001009	"Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." []	1165801	\N	\N	EFO	3	EFO	anatomy basic component	circulatory system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001009	"Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." []	2049726	\N	\N	EFO	4	EFO	organism part	circulatory system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001009	"Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." []	3199702	\N	\N	EFO	5	EFO	material entity	circulatory system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001009	"Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." []	4404800	\N	\N	EFO	6	EFO	experimental factor	circulatory system {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001021	\N	\N	"An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures." []	UBERON:0001021	"An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures." []	79632	\N	\N	EFO	0	EFO	nerve {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	nerve {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001016	\N	\N	"a network of specialized cells that communicate information about an organism's surroundings and itself[Wikipedia]." [ISBN:0-14-051288-8, ISBN:3110148986, NLM:nervous+system, WB:rynl, Wikipedia:Nervous_system, ZFIN:curator]	UBERON:0001021	"An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures." []	195956	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	nervous system	nerve {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001037	\N	\N	"1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal.n2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head." []	UBERON:0001037	"1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal.n2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head." []	79635	\N	\N	EFO	0	EFO	hair	hair
EFO:0000787	UBERON:0001037	\N	"" []	UBERON:0001037	"1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal.n2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head." []	224831	\N	\N	EFO	1	EFO	animal component	hair
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001037	"1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal.n2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head." []	581754	\N	\N	EFO	2	EFO	anatomy basic component	hair
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001037	"1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal.n2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head." []	1165802	\N	\N	EFO	3	EFO	organism part	hair
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001037	"1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal.n2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head." []	2049727	\N	\N	EFO	4	EFO	material entity	hair
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001037	"1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal.n2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head." []	3199703	\N	\N	EFO	5	EFO	experimental factor	hair
UBERON:0001083	\N	\N	"Muscular layer of the cardiac ventricle composed of a compact myocardial layer surrounding the trabecular layer." []	UBERON:0001083	"Muscular layer of the cardiac ventricle composed of a compact myocardial layer surrounding the trabecular layer." []	79653	\N	\N	EFO	0	EFO	myocardium of ventricle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	myocardium of ventricle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0002082	\N	\N	"Cardiac chamber which consists of a wall that surrounds the cavity of a ventricle." [FMA:7100]	UBERON:0001083	"Muscular layer of the cardiac ventricle composed of a compact myocardial layer surrounding the trabecular layer." []	195972	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	cardiac ventricle	myocardium of ventricle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001091	\N	\N	"Organ with a cavity which consist of dentine and enamel. Examples: incisor, molar." []	UBERON:0001091	"Organ with a cavity which consist of dentine and enamel. Examples: incisor, molar." []	79655	\N	\N	EFO	0	EFO	tooth	tooth
EFO:0000787	UBERON:0001091	\N	"" []	UBERON:0001091	"Organ with a cavity which consist of dentine and enamel. Examples: incisor, molar." []	224832	\N	\N	EFO	1	EFO	animal component	tooth
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001091	"Organ with a cavity which consist of dentine and enamel. Examples: incisor, molar." []	581755	\N	\N	EFO	2	EFO	anatomy basic component	tooth
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001091	"Organ with a cavity which consist of dentine and enamel. Examples: incisor, molar." []	1165803	\N	\N	EFO	3	EFO	organism part	tooth
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001091	"Organ with a cavity which consist of dentine and enamel. Examples: incisor, molar." []	2049728	\N	\N	EFO	4	EFO	material entity	tooth
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001091	"Organ with a cavity which consist of dentine and enamel. Examples: incisor, molar." []	3199704	\N	\N	EFO	5	EFO	experimental factor	tooth
UBERON:0001134	\N	\N	"Muscle tissue that consists primarily of skeletal muscle fibers. [ https://github.com/obophenotype/uberon/issues/324 ]" []	UBERON:0001134	"Muscle tissue that consists primarily of skeletal muscle fibers. [ https://github.com/obophenotype/uberon/issues/324 ]" []	79659	\N	\N	EFO	0	EFO	skeletal muscle tissue	skeletal muscle tissue
EFO:0000787	UBERON:0001134	\N	"" []	UBERON:0001134	"Muscle tissue that consists primarily of skeletal muscle fibers. [ https://github.com/obophenotype/uberon/issues/324 ]" []	224833	\N	\N	EFO	1	EFO	animal component	skeletal muscle tissue
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001134	"Muscle tissue that consists primarily of skeletal muscle fibers. [ https://github.com/obophenotype/uberon/issues/324 ]" []	581756	\N	\N	EFO	2	EFO	anatomy basic component	skeletal muscle tissue
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001134	"Muscle tissue that consists primarily of skeletal muscle fibers. [ https://github.com/obophenotype/uberon/issues/324 ]" []	1165804	\N	\N	EFO	3	EFO	organism part	skeletal muscle tissue
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001134	"Muscle tissue that consists primarily of skeletal muscle fibers. [ https://github.com/obophenotype/uberon/issues/324 ]" []	2049729	\N	\N	EFO	4	EFO	material entity	skeletal muscle tissue
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001134	"Muscle tissue that consists primarily of skeletal muscle fibers. [ https://github.com/obophenotype/uberon/issues/324 ]" []	3199705	\N	\N	EFO	5	EFO	experimental factor	skeletal muscle tissue
UBERON:0001135	\N	\N	"Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length." []	UBERON:0001135	"Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length." []	79660	\N	\N	EFO	0	EFO	smooth muscle tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	smooth muscle tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000889	UBERON:0001135	\N	"Visceral muscle of the adult." []	UBERON:0001135	"Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length." []	224834	\N	\N	EFO	1	EFO	smooth muscle	smooth muscle tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001179	\N	\N	"Anatomical cavity bounded by visceral and parietal peritoneum." []	UBERON:0001179	"Anatomical cavity bounded by visceral and parietal peritoneum." []	79671	\N	\N	EFO	0	EFO	peritoneal cavity {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	peritoneal cavity {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000787	UBERON:0001179	\N	"" []	UBERON:0001179	"Anatomical cavity bounded by visceral and parietal peritoneum." []	224835	\N	\N	EFO	1	EFO	animal component	peritoneal cavity {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001179	"Anatomical cavity bounded by visceral and parietal peritoneum." []	581757	\N	\N	EFO	2	EFO	anatomy basic component	peritoneal cavity {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001179	"Anatomical cavity bounded by visceral and parietal peritoneum." []	1165805	\N	\N	EFO	3	EFO	organism part	peritoneal cavity {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001179	"Anatomical cavity bounded by visceral and parietal peritoneum." []	2049730	\N	\N	EFO	4	EFO	material entity	peritoneal cavity {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001179	"Anatomical cavity bounded by visceral and parietal peritoneum." []	3199706	\N	\N	EFO	5	EFO	experimental factor	peritoneal cavity {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001259	\N	\N	"The mucous membrane lining the urinary bladder." []	UBERON:0001259	"The mucous membrane lining the urinary bladder." []	79679	\N	\N	EFO	0	EFO	mucosa of urinary bladder {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	mucosa of urinary bladder {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001255	\N	\N	"distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]." [MGI:anna, Wikipedia:Urinary_bladder]	UBERON:0001259	"The mucous membrane lining the urinary bladder." []	195993	\N	efo_slim,major_organ,organ_slim,uberon_slim	EFO	0	EFO	urinary bladder	mucosa of urinary bladder {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001401	\N	\N	"The longissimus thoracis is the intermediate and largest of the continuations of the sacrospinalis." []	UBERON:0001401	"The longissimus thoracis is the intermediate and largest of the continuations of the sacrospinalis." []	79701	\N	\N	EFO	0	EFO	longissimus thoracic muscle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	longissimus thoracic muscle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001015	\N	\N	"A body tissue consisting of long cells that contract when stimulated and produce motion." []	UBERON:0001401	"The longissimus thoracis is the intermediate and largest of the continuations of the sacrospinalis." []	196005	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	musculature	longissimus thoracic muscle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001416	\N	\N	"The skin or integument surrounding the abdomen." []	UBERON:0001416	"The skin or integument surrounding the abdomen." []	79703	\N	\N	EFO	0	EFO	abdominal skin	abdominal skin
EFO:0000787	UBERON:0001416	\N	"" []	UBERON:0001416	"The skin or integument surrounding the abdomen." []	224836	\N	\N	EFO	1	EFO	animal component	abdominal skin
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001416	"The skin or integument surrounding the abdomen." []	581758	\N	\N	EFO	2	EFO	anatomy basic component	abdominal skin
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001416	"The skin or integument surrounding the abdomen." []	1165806	\N	\N	EFO	3	EFO	organism part	abdominal skin
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001416	"The skin or integument surrounding the abdomen." []	2049731	\N	\N	EFO	4	EFO	material entity	abdominal skin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001416	"The skin or integument surrounding the abdomen." []	3199707	\N	\N	EFO	5	EFO	experimental factor	abdominal skin
UBERON:0001460	\N	\N	"The portion of the upper extremity between the shoulder and the elbow. For clinical purposes this term is also used to refer to the whole superior limb." []	UBERON:0001460	"The portion of the upper extremity between the shoulder and the elbow. For clinical purposes this term is also used to refer to the whole superior limb." []	79707	\N	\N	EFO	0	EFO	arm	arm
UBERON:0002101	\N	\N	"A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts." [UBERONREF:0000003]	UBERON:0001460	"The portion of the upper extremity between the shoulder and the elbow. For clinical purposes this term is also used to refer to the whole superior limb." []	196010	\N	efo_slim,uberon_slim	EFO	0	EFO	limb	arm
UBERON:0001464	\N	\N	"The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them." []	UBERON:0001464	"The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them." []	79709	\N	\N	EFO	0	EFO	hip	hip
EFO:0000808	UBERON:0001464	\N	"Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum." []	UBERON:0001464	"The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them." []	224837	\N	\N	EFO	1	EFO	animal body part	hip
EFO:0000787	EFO:0000808	\N	"" []	UBERON:0001464	"The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them." []	581759	\N	\N	EFO	2	EFO	animal component	hip
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001464	"The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them." []	1165807	\N	\N	EFO	3	EFO	anatomy basic component	hip
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001464	"The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them." []	2049732	\N	\N	EFO	4	EFO	organism part	hip
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001464	"The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them." []	3199708	\N	\N	EFO	5	EFO	material entity	hip
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001464	"The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them." []	4404801	\N	\N	EFO	6	EFO	experimental factor	hip
UBERON:0001474	\N	\N	"The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone." []	UBERON:0001474	"The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone." []	79713	\N	\N	EFO	0	EFO	bone	bone
EFO:0000787	UBERON:0001474	\N	"" []	UBERON:0001474	"The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone." []	224838	\N	\N	EFO	1	EFO	animal component	bone
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001474	"The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone." []	581760	\N	\N	EFO	2	EFO	anatomy basic component	bone
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001474	"The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone." []	1165808	\N	\N	EFO	3	EFO	organism part	bone
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001474	"The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone." []	2049733	\N	\N	EFO	4	EFO	material entity	bone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001474	"The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone." []	3199709	\N	\N	EFO	5	EFO	experimental factor	bone
UBERON:0001495	\N	\N	"Muscles of the upper chest. The term may refer to one of two muscles, the pectoralis major and pectoralis minor. The former is a thick muscle in the anterior portion of the chest. Its action involves flexion, medial rotation, and adduction of the humerus. The latter is a thin muscle located beneath the pectoralis major. Its action involves lowering the scapula and raising the ribs. This currently groups the major and minor muscles (which have different attachment sites) as well as the AAO structure: Muscle which is comprised of three heads. The anterior head is the portio epicoracoidea that originates on the epicoracoid cartilage and inserts on the deltoid crest of the humerus. The next more posterior head, portio sternalis, originates on the sternum and inserts in the groove next to the deltoid crest of the humerus. The most posterior head, portio abdominalis, arises from the M. rectus abdominis and inserts on the deltoid crest of the humerus." []	UBERON:0001495	"Muscles of the upper chest. The term may refer to one of two muscles, the pectoralis major and pectoralis minor. The former is a thick muscle in the anterior portion of the chest. Its action involves flexion, medial rotation, and adduction of the humerus. The latter is a thin muscle located beneath the pectoralis major. Its action involves lowering the scapula and raising the ribs. This currently groups the major and minor muscles (which have different attachment sites) as well as the AAO structure: Muscle which is comprised of three heads. The anterior head is the portio epicoracoidea that originates on the epicoracoid cartilage and inserts on the deltoid crest of the humerus. The next more posterior head, portio sternalis, originates on the sternum and inserts in the groove next to the deltoid crest of the humerus. The most posterior head, portio abdominalis, arises from the M. rectus abdominis and inserts on the deltoid crest of the humerus." []	79717	\N	\N	EFO	0	EFO	pectoral muscle	pectoral muscle
UBERON:0014892	UBERON:0001495	\N	"A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles)." []	UBERON:0001495	"Muscles of the upper chest. The term may refer to one of two muscles, the pectoralis major and pectoralis minor. The former is a thick muscle in the anterior portion of the chest. Its action involves flexion, medial rotation, and adduction of the humerus. The latter is a thin muscle located beneath the pectoralis major. Its action involves lowering the scapula and raising the ribs. This currently groups the major and minor muscles (which have different attachment sites) as well as the AAO structure: Muscle which is comprised of three heads. The anterior head is the portio epicoracoidea that originates on the epicoracoid cartilage and inserts on the deltoid crest of the humerus. The next more posterior head, portio sternalis, originates on the sternum and inserts in the groove next to the deltoid crest of the humerus. The most posterior head, portio abdominalis, arises from the M. rectus abdominis and inserts on the deltoid crest of the humerus." []	224839	\N	\N	EFO	1	EFO	skeletal muscle organ	pectoral muscle
UBERON:0001706	\N	\N	"" []	UBERON:0001706	"" []	79736	\N	\N	EFO	0	EFO	nasal septum	nasal septum
EFO:0000787	UBERON:0001706	\N	"" []	UBERON:0001706	"" []	224840	\N	\N	EFO	1	EFO	animal component	nasal septum
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001706	"" []	581761	\N	\N	EFO	2	EFO	anatomy basic component	nasal septum
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001706	"" []	1165809	\N	\N	EFO	3	EFO	organism part	nasal septum
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001706	"" []	2049734	\N	\N	EFO	4	EFO	material entity	nasal septum
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001706	"" []	3199710	\N	\N	EFO	5	EFO	experimental factor	nasal septum
UBERON:0001711	\N	\N	"An eyelid is a thin fold of skin that covers and protects an eyeball. With the exception of the prepuce and the labia minora, it has the thinnest skin of the whole body. The levator palpebrae superioris muscle retracts the eyelid to 'open' the eye. This can be either voluntarily or involuntarily. The human eyelid features a row of eyelashes which serve to heighten the protection of the eye from dust and foreign debris, as well as from perspiration. 'Palpebral' (and 'blepharo') means relating to the eyelids. Its key function is to regularly spread the tears and other secretion on the eye surface to keep it moist, since the cornea must be continuously moist. They keep the eyes from drying out when asleep. Moreover, the blink reflex protects the eye from foreign bodies. [WP,unvetted]. Each eyelid consists of the following layers, starting anteriorly: (1) skin, (2) a layer of subcutaneous connective tissue, (3) a layer of striated muscle fibres of the orbicularis muscle, (4) a layer of submuscular connective tissue, (5) a fibrous layer, including the tarsal plates, (6) a layer of smooth muscle, (7) the palpebral conjunctiva. AO notes: FMA divides this into skin, fascia, conjunctiva. Consider adding 'eye surface', like MA" []	UBERON:0001711	"An eyelid is a thin fold of skin that covers and protects an eyeball. With the exception of the prepuce and the labia minora, it has the thinnest skin of the whole body. The levator palpebrae superioris muscle retracts the eyelid to 'open' the eye. This can be either voluntarily or involuntarily. The human eyelid features a row of eyelashes which serve to heighten the protection of the eye from dust and foreign debris, as well as from perspiration. 'Palpebral' (and 'blepharo') means relating to the eyelids. Its key function is to regularly spread the tears and other secretion on the eye surface to keep it moist, since the cornea must be continuously moist. They keep the eyes from drying out when asleep. Moreover, the blink reflex protects the eye from foreign bodies. [WP,unvetted]. Each eyelid consists of the following layers, starting anteriorly: (1) skin, (2) a layer of subcutaneous connective tissue, (3) a layer of striated muscle fibres of the orbicularis muscle, (4) a layer of submuscular connective tissue, (5) a fibrous layer, including the tarsal plates, (6) a layer of smooth muscle, (7) the palpebral conjunctiva. AO notes: FMA divides this into skin, fascia, conjunctiva. Consider adding 'eye surface', like MA" []	79738	\N	\N	EFO	0	EFO	eyelid	eyelid
EFO:0000787	UBERON:0001711	\N	"" []	UBERON:0001711	"An eyelid is a thin fold of skin that covers and protects an eyeball. With the exception of the prepuce and the labia minora, it has the thinnest skin of the whole body. The levator palpebrae superioris muscle retracts the eyelid to 'open' the eye. This can be either voluntarily or involuntarily. The human eyelid features a row of eyelashes which serve to heighten the protection of the eye from dust and foreign debris, as well as from perspiration. 'Palpebral' (and 'blepharo') means relating to the eyelids. Its key function is to regularly spread the tears and other secretion on the eye surface to keep it moist, since the cornea must be continuously moist. They keep the eyes from drying out when asleep. Moreover, the blink reflex protects the eye from foreign bodies. [WP,unvetted]. Each eyelid consists of the following layers, starting anteriorly: (1) skin, (2) a layer of subcutaneous connective tissue, (3) a layer of striated muscle fibres of the orbicularis muscle, (4) a layer of submuscular connective tissue, (5) a fibrous layer, including the tarsal plates, (6) a layer of smooth muscle, (7) the palpebral conjunctiva. AO notes: FMA divides this into skin, fascia, conjunctiva. Consider adding 'eye surface', like MA" []	224841	\N	\N	EFO	1	EFO	animal component	eyelid
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001711	"An eyelid is a thin fold of skin that covers and protects an eyeball. With the exception of the prepuce and the labia minora, it has the thinnest skin of the whole body. The levator palpebrae superioris muscle retracts the eyelid to 'open' the eye. This can be either voluntarily or involuntarily. The human eyelid features a row of eyelashes which serve to heighten the protection of the eye from dust and foreign debris, as well as from perspiration. 'Palpebral' (and 'blepharo') means relating to the eyelids. Its key function is to regularly spread the tears and other secretion on the eye surface to keep it moist, since the cornea must be continuously moist. They keep the eyes from drying out when asleep. Moreover, the blink reflex protects the eye from foreign bodies. [WP,unvetted]. Each eyelid consists of the following layers, starting anteriorly: (1) skin, (2) a layer of subcutaneous connective tissue, (3) a layer of striated muscle fibres of the orbicularis muscle, (4) a layer of submuscular connective tissue, (5) a fibrous layer, including the tarsal plates, (6) a layer of smooth muscle, (7) the palpebral conjunctiva. AO notes: FMA divides this into skin, fascia, conjunctiva. Consider adding 'eye surface', like MA" []	581762	\N	\N	EFO	2	EFO	anatomy basic component	eyelid
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001711	"An eyelid is a thin fold of skin that covers and protects an eyeball. With the exception of the prepuce and the labia minora, it has the thinnest skin of the whole body. The levator palpebrae superioris muscle retracts the eyelid to 'open' the eye. This can be either voluntarily or involuntarily. The human eyelid features a row of eyelashes which serve to heighten the protection of the eye from dust and foreign debris, as well as from perspiration. 'Palpebral' (and 'blepharo') means relating to the eyelids. Its key function is to regularly spread the tears and other secretion on the eye surface to keep it moist, since the cornea must be continuously moist. They keep the eyes from drying out when asleep. Moreover, the blink reflex protects the eye from foreign bodies. [WP,unvetted]. Each eyelid consists of the following layers, starting anteriorly: (1) skin, (2) a layer of subcutaneous connective tissue, (3) a layer of striated muscle fibres of the orbicularis muscle, (4) a layer of submuscular connective tissue, (5) a fibrous layer, including the tarsal plates, (6) a layer of smooth muscle, (7) the palpebral conjunctiva. AO notes: FMA divides this into skin, fascia, conjunctiva. Consider adding 'eye surface', like MA" []	1165810	\N	\N	EFO	3	EFO	organism part	eyelid
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001711	"An eyelid is a thin fold of skin that covers and protects an eyeball. With the exception of the prepuce and the labia minora, it has the thinnest skin of the whole body. The levator palpebrae superioris muscle retracts the eyelid to 'open' the eye. This can be either voluntarily or involuntarily. The human eyelid features a row of eyelashes which serve to heighten the protection of the eye from dust and foreign debris, as well as from perspiration. 'Palpebral' (and 'blepharo') means relating to the eyelids. Its key function is to regularly spread the tears and other secretion on the eye surface to keep it moist, since the cornea must be continuously moist. They keep the eyes from drying out when asleep. Moreover, the blink reflex protects the eye from foreign bodies. [WP,unvetted]. Each eyelid consists of the following layers, starting anteriorly: (1) skin, (2) a layer of subcutaneous connective tissue, (3) a layer of striated muscle fibres of the orbicularis muscle, (4) a layer of submuscular connective tissue, (5) a fibrous layer, including the tarsal plates, (6) a layer of smooth muscle, (7) the palpebral conjunctiva. AO notes: FMA divides this into skin, fascia, conjunctiva. Consider adding 'eye surface', like MA" []	2049735	\N	\N	EFO	4	EFO	material entity	eyelid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001711	"An eyelid is a thin fold of skin that covers and protects an eyeball. With the exception of the prepuce and the labia minora, it has the thinnest skin of the whole body. The levator palpebrae superioris muscle retracts the eyelid to 'open' the eye. This can be either voluntarily or involuntarily. The human eyelid features a row of eyelashes which serve to heighten the protection of the eye from dust and foreign debris, as well as from perspiration. 'Palpebral' (and 'blepharo') means relating to the eyelids. Its key function is to regularly spread the tears and other secretion on the eye surface to keep it moist, since the cornea must be continuously moist. They keep the eyes from drying out when asleep. Moreover, the blink reflex protects the eye from foreign bodies. [WP,unvetted]. Each eyelid consists of the following layers, starting anteriorly: (1) skin, (2) a layer of subcutaneous connective tissue, (3) a layer of striated muscle fibres of the orbicularis muscle, (4) a layer of submuscular connective tissue, (5) a fibrous layer, including the tarsal plates, (6) a layer of smooth muscle, (7) the palpebral conjunctiva. AO notes: FMA divides this into skin, fascia, conjunctiva. Consider adding 'eye surface', like MA" []	3199711	\N	\N	EFO	5	EFO	experimental factor	eyelid
UBERON:0001744	\N	efo_slim,uberon_slim	"Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes" []	UBERON:0001744	"Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes" []	79747	\N	efo_slim,uberon_slim	EFO	0	EFO	lymphoid tissue	lymphoid tissue
EFO:0000787	UBERON:0001744	efo_slim,uberon_slim	"" []	UBERON:0001744	"Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes" []	224842	efo_slim,uberon_slim	\N	EFO	1	EFO	animal component	lymphoid tissue
EFO:0000786	EFO:0000787	efo_slim,uberon_slim	"" []	UBERON:0001744	"Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes" []	581763	\N	\N	EFO	2	EFO	anatomy basic component	lymphoid tissue
EFO:0000635	EFO:0000786	efo_slim,uberon_slim	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001744	"Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes" []	1165811	\N	\N	EFO	3	EFO	organism part	lymphoid tissue
BFO:0000040	EFO:0000635	efo_slim,uberon_slim	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001744	"Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes" []	2049736	\N	\N	EFO	4	EFO	material entity	lymphoid tissue
EFO:0000001	BFO:0000040	efo_slim,uberon_slim	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001744	"Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes" []	3199712	\N	\N	EFO	5	EFO	experimental factor	lymphoid tissue
UBERON:0001774	\N	\N	"" []	UBERON:0001774	"" []	79751	\N	\N	EFO	0	EFO	trunk musculature	trunk musculature
EFO:0003331	UBERON:0001774	\N	"" []	UBERON:0001774	"" []	224843	\N	\N	EFO	1	EFO	zebrafish component	trunk musculature
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0001774	"" []	581764	\N	\N	EFO	2	EFO	animal component	trunk musculature
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001774	"" []	1165812	\N	\N	EFO	3	EFO	anatomy basic component	trunk musculature
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001774	"" []	2049737	\N	\N	EFO	4	EFO	organism part	trunk musculature
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001774	"" []	3199713	\N	\N	EFO	5	EFO	material entity	trunk musculature
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001774	"" []	4404802	\N	\N	EFO	6	EFO	experimental factor	trunk musculature
UBERON:0001777	\N	\N	"The lamellated connective tissue of the cornea between the Bowman and Descemet membranes" []	UBERON:0001777	"The lamellated connective tissue of the cornea between the Bowman and Descemet membranes" []	79752	\N	\N	EFO	0	EFO	substantia propria of cornea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	substantia propria of cornea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000964	\N	\N	"transparent front part of the eye that covers the iris, pupil, and anterior chamber. Together with the lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power." [Wikipedia:Cornea]	UBERON:0001777	"The lamellated connective tissue of the cornea between the Bowman and Descemet membranes" []	196034	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	cornea	substantia propria of cornea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001836	\N	\N	"A slightly alkaline secretion of water, mucin, protein, salts, and often a starch-splitting enzyme, as ptyalin, that is secreted into the mouth by salivary glands, lubricates ingested food, and often begins the breakdown of starches." []	UBERON:0001836	"A slightly alkaline secretion of water, mucin, protein, salts, and often a starch-splitting enzyme, as ptyalin, that is secreted into the mouth by salivary glands, lubricates ingested food, and often begins the breakdown of starches." []	79760	\N	\N	EFO	0	EFO	saliva	saliva
UBERON:0006314	UBERON:0001836	\N	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	UBERON:0001836	"A slightly alkaline secretion of water, mucin, protein, salts, and often a starch-splitting enzyme, as ptyalin, that is secreted into the mouth by salivary glands, lubricates ingested food, and often begins the breakdown of starches." []	224844	\N	\N	EFO	1	EFO	bodily fluid	saliva
EFO:0000787	UBERON:0006314	\N	"" []	UBERON:0001836	"A slightly alkaline secretion of water, mucin, protein, salts, and often a starch-splitting enzyme, as ptyalin, that is secreted into the mouth by salivary glands, lubricates ingested food, and often begins the breakdown of starches." []	581765	\N	\N	EFO	2	EFO	animal component	saliva
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001836	"A slightly alkaline secretion of water, mucin, protein, salts, and often a starch-splitting enzyme, as ptyalin, that is secreted into the mouth by salivary glands, lubricates ingested food, and often begins the breakdown of starches." []	1165813	\N	\N	EFO	3	EFO	anatomy basic component	saliva
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001836	"A slightly alkaline secretion of water, mucin, protein, salts, and often a starch-splitting enzyme, as ptyalin, that is secreted into the mouth by salivary glands, lubricates ingested food, and often begins the breakdown of starches." []	2049738	\N	\N	EFO	4	EFO	organism part	saliva
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001836	"A slightly alkaline secretion of water, mucin, protein, salts, and often a starch-splitting enzyme, as ptyalin, that is secreted into the mouth by salivary glands, lubricates ingested food, and often begins the breakdown of starches." []	3199714	\N	\N	EFO	5	EFO	material entity	saliva
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001836	"A slightly alkaline secretion of water, mucin, protein, salts, and often a starch-splitting enzyme, as ptyalin, that is secreted into the mouth by salivary glands, lubricates ingested food, and often begins the breakdown of starches." []	4404803	\N	\N	EFO	6	EFO	experimental factor	saliva
UBERON:0001885	\N	\N	"Part of the hippocampal formation forming a 'V' or 'U' shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer." []	UBERON:0001885	"Part of the hippocampal formation forming a 'V' or 'U' shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer." []	79773	\N	\N	EFO	0	EFO	dentate gyrus of hippocampal formation {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	dentate gyrus of hippocampal formation {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000956	\N	\N	"The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 24 mm (0.080.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted]." [Wikipedia:Cerebral_cortex]	UBERON:0001885	"Part of the hippocampal formation forming a 'V' or 'U' shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer." []	196047	\N	efo_slim,uberon_slim	EFO	0	EFO	cerebral cortex	dentate gyrus of hippocampal formation {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001930	\N	\N	"" []	UBERON:0001930	"" []	79792	\N	\N	EFO	0	EFO	paraventricular nucleus	paraventricular nucleus
UBERON:0000955	\N	\N	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	UBERON:0001930	"" []	196063	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	EFO	0	EFO	brain	paraventricular nucleus
UBERON:0001950	\N	\N	"An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN) [ http://uri.neuinfo.org/nif/nifstd/birnlex_2547 OldNeuroNames:754 ]" []	UBERON:0001950	"An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN) [ http://uri.neuinfo.org/nif/nifstd/birnlex_2547 OldNeuroNames:754 ]" []	79795	\N	\N	EFO	0	EFO	neocortex	neocortex
UBERON:0000467	UBERON:0001950	\N	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0001950	"An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN) [ http://uri.neuinfo.org/nif/nifstd/birnlex_2547 OldNeuroNames:754 ]" []	224845	\N	\N	EFO	1	EFO	anatomical system	neocortex
EFO:0000787	UBERON:0000467	\N	"" []	UBERON:0001950	"An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN) [ http://uri.neuinfo.org/nif/nifstd/birnlex_2547 OldNeuroNames:754 ]" []	581766	\N	\N	EFO	2	EFO	animal component	neocortex
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001950	"An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN) [ http://uri.neuinfo.org/nif/nifstd/birnlex_2547 OldNeuroNames:754 ]" []	1165814	\N	\N	EFO	3	EFO	anatomy basic component	neocortex
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001950	"An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN) [ http://uri.neuinfo.org/nif/nifstd/birnlex_2547 OldNeuroNames:754 ]" []	2049739	\N	\N	EFO	4	EFO	organism part	neocortex
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001950	"An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN) [ http://uri.neuinfo.org/nif/nifstd/birnlex_2547 OldNeuroNames:754 ]" []	3199715	\N	\N	EFO	5	EFO	material entity	neocortex
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001950	"An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN) [ http://uri.neuinfo.org/nif/nifstd/birnlex_2547 OldNeuroNames:754 ]" []	4404804	\N	\N	EFO	6	EFO	experimental factor	neocortex
UBERON:0001954	\N	\N	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. [ NIFSTD:birnlex_721 ]" []	UBERON:0001954	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. [ NIFSTD:birnlex_721 ]" []	79796	\N	\N	EFO	0	EFO	Ammon's horn	Ammon's horn
UBERON:0000467	UBERON:0001954	\N	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0001954	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. [ NIFSTD:birnlex_721 ]" []	224846	\N	\N	EFO	1	EFO	anatomical system	Ammon's horn
EFO:0000787	UBERON:0000467	\N	"" []	UBERON:0001954	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. [ NIFSTD:birnlex_721 ]" []	581767	\N	\N	EFO	2	EFO	animal component	Ammon's horn
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001954	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. [ NIFSTD:birnlex_721 ]" []	1165815	\N	\N	EFO	3	EFO	anatomy basic component	Ammon's horn
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001954	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. [ NIFSTD:birnlex_721 ]" []	2049740	\N	\N	EFO	4	EFO	organism part	Ammon's horn
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001954	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. [ NIFSTD:birnlex_721 ]" []	3199716	\N	\N	EFO	5	EFO	material entity	Ammon's horn
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001954	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. [ NIFSTD:birnlex_721 ]" []	4404805	\N	\N	EFO	6	EFO	experimental factor	Ammon's horn
UBERON:0001976	\N	\N	"The epithelial layer that lines the luminal space of the esophagus." []	UBERON:0001976	"The epithelial layer that lines the luminal space of the esophagus." []	79799	\N	\N	EFO	0	EFO	epithelium of esophagus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	epithelium of esophagus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000483	UBERON:0001976	\N	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	UBERON:0001976	"The epithelial layer that lines the luminal space of the esophagus." []	224847	\N	\N	EFO	1	EFO	epithelium	epithelium of esophagus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000787	UBERON:0000483	\N	"" []	UBERON:0001976	"The epithelial layer that lines the luminal space of the esophagus." []	581768	\N	\N	EFO	2	EFO	animal component	epithelium of esophagus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0001976	"The epithelial layer that lines the luminal space of the esophagus." []	1165816	\N	\N	EFO	3	EFO	anatomy basic component	epithelium of esophagus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0001976	"The epithelial layer that lines the luminal space of the esophagus." []	2049741	\N	\N	EFO	4	EFO	organism part	epithelium of esophagus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0001976	"The epithelial layer that lines the luminal space of the esophagus." []	3199717	\N	\N	EFO	5	EFO	material entity	epithelium of esophagus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0001976	"The epithelial layer that lines the luminal space of the esophagus." []	4404806	\N	\N	EFO	6	EFO	experimental factor	epithelium of esophagus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0002031	\N	\N	"An epithelium that is part of a bronchus [Automatically generated definition]. [ OBOL:automatic ]" []	UBERON:0002031	"An epithelium that is part of a bronchus [Automatically generated definition]. [ OBOL:automatic ]" []	79810	\N	\N	EFO	0	EFO	epithelium of bronchus	epithelium of bronchus
UBERON:0000483	UBERON:0002031	\N	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	UBERON:0002031	"An epithelium that is part of a bronchus [Automatically generated definition]. [ OBOL:automatic ]" []	224848	\N	\N	EFO	1	EFO	epithelium	epithelium of bronchus
EFO:0000787	UBERON:0000483	\N	"" []	UBERON:0002031	"An epithelium that is part of a bronchus [Automatically generated definition]. [ OBOL:automatic ]" []	581769	\N	\N	EFO	2	EFO	animal component	epithelium of bronchus
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0002031	"An epithelium that is part of a bronchus [Automatically generated definition]. [ OBOL:automatic ]" []	1165817	\N	\N	EFO	3	EFO	anatomy basic component	epithelium of bronchus
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002031	"An epithelium that is part of a bronchus [Automatically generated definition]. [ OBOL:automatic ]" []	2049742	\N	\N	EFO	4	EFO	organism part	epithelium of bronchus
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002031	"An epithelium that is part of a bronchus [Automatically generated definition]. [ OBOL:automatic ]" []	3199718	\N	\N	EFO	5	EFO	material entity	epithelium of bronchus
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002031	"An epithelium that is part of a bronchus [Automatically generated definition]. [ OBOL:automatic ]" []	4404807	\N	\N	EFO	6	EFO	experimental factor	epithelium of bronchus
UBERON:0002051	\N	\N	"An epithelium that is part of a bronchiole [Automatically generated definition]. [ OBOL:automatic ]" []	UBERON:0002051	"An epithelium that is part of a bronchiole [Automatically generated definition]. [ OBOL:automatic ]" []	79819	\N	\N	EFO	0	EFO	epithelium of bronchiole	epithelium of bronchiole
UBERON:0000115	UBERON:0002051	\N	"The epithelial layer of the lung. [ MP:0006382 ]" []	UBERON:0002051	"An epithelium that is part of a bronchiole [Automatically generated definition]. [ OBOL:automatic ]" []	224849	\N	\N	EFO	1	EFO	lung epithelium	epithelium of bronchiole
UBERON:0000483	UBERON:0000115	\N	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	UBERON:0002051	"An epithelium that is part of a bronchiole [Automatically generated definition]. [ OBOL:automatic ]" []	581770	\N	\N	EFO	2	EFO	epithelium	epithelium of bronchiole
EFO:0000787	UBERON:0000483	\N	"" []	UBERON:0002051	"An epithelium that is part of a bronchiole [Automatically generated definition]. [ OBOL:automatic ]" []	1165818	\N	\N	EFO	3	EFO	animal component	epithelium of bronchiole
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0002051	"An epithelium that is part of a bronchiole [Automatically generated definition]. [ OBOL:automatic ]" []	2049743	\N	\N	EFO	4	EFO	anatomy basic component	epithelium of bronchiole
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002051	"An epithelium that is part of a bronchiole [Automatically generated definition]. [ OBOL:automatic ]" []	3199719	\N	\N	EFO	5	EFO	organism part	epithelium of bronchiole
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002051	"An epithelium that is part of a bronchiole [Automatically generated definition]. [ OBOL:automatic ]" []	4404808	\N	\N	EFO	6	EFO	material entity	epithelium of bronchiole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002051	"An epithelium that is part of a bronchiole [Automatically generated definition]. [ OBOL:automatic ]" []	5420270	\N	\N	EFO	7	EFO	experimental factor	epithelium of bronchiole
UBERON:0002078	\N	\N	"The right atrium receives deoxygenated blood from the body through the vena cava and pumps it into the right ventricle which then sends it to the lungs." []	UBERON:0002078	"The right atrium receives deoxygenated blood from the body through the vena cava and pumps it into the right ventricle which then sends it to the lungs." []	79824	\N	\N	EFO	0	EFO	right atrium	right atrium
EFO:0001955	UBERON:0002078	\N	"A heart component is an animal component that is part of some heart." []	UBERON:0002078	"The right atrium receives deoxygenated blood from the body through the vena cava and pumps it into the right ventricle which then sends it to the lungs." []	224850	\N	\N	EFO	1	EFO	heart component	right atrium
UBERON:0002079	\N	\N	"A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve." []	UBERON:0002079	"A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve." []	79825	\N	\N	EFO	0	EFO	left cardiac atrium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	left cardiac atrium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0002081	\N	\N	"Cardiac chamber which consists of a wall that surrounds the cavity of an atrium.[FMA]" [FMA:FMA, Wikipedia:Heart_atrium]	UBERON:0002079	"A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve." []	196086	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	cardiac atrium	left cardiac atrium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0002080	\N	\N	"A cardiac ventricle that is in the right side of the heart. [ http://orcid.org/0000-0002-6601-2165 ]" []	UBERON:0002080	"A cardiac ventricle that is in the right side of the heart. [ http://orcid.org/0000-0002-6601-2165 ]" []	79826	\N	\N	EFO	0	EFO	heart right ventricle	heart right ventricle
UBERON:0002082	\N	\N	"Cardiac chamber which consists of a wall that surrounds the cavity of a ventricle." [FMA:7100]	UBERON:0002080	"A cardiac ventricle that is in the right side of the heart. [ http://orcid.org/0000-0002-6601-2165 ]" []	196087	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	cardiac ventricle	heart right ventricle
UBERON:0002084	\N	\N	"A cardiac ventricle that is in the left side of the heart. [http://orcid.org/0000-0002-6601-2165 ]" []	UBERON:0002084	"A cardiac ventricle that is in the left side of the heart. [http://orcid.org/0000-0002-6601-2165 ]" []	79829	\N	\N	EFO	0	EFO	heart left ventricle	heart left ventricle
UBERON:0002082	\N	\N	"Cardiac chamber which consists of a wall that surrounds the cavity of a ventricle." [FMA:7100]	UBERON:0002084	"A cardiac ventricle that is in the left side of the heart. [http://orcid.org/0000-0002-6601-2165 ]" []	196090	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	cardiac ventricle	heart left ventricle
UBERON:0002186	\N	\N	"the first airway branch that no longer contains cartilage; it is a branch of the bronchus[GO]." []	UBERON:0002186	"the first airway branch that no longer contains cartilage; it is a branch of the bronchus[GO]." []	79855	\N	\N	EFO	0	EFO	bronchiole	bronchiole
EFO:0000787	UBERON:0002186	\N	"" []	UBERON:0002186	"the first airway branch that no longer contains cartilage; it is a branch of the bronchus[GO]." []	224851	\N	\N	EFO	1	EFO	animal component	bronchiole
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0002186	"the first airway branch that no longer contains cartilage; it is a branch of the bronchus[GO]." []	581771	\N	\N	EFO	2	EFO	anatomy basic component	bronchiole
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002186	"the first airway branch that no longer contains cartilage; it is a branch of the bronchus[GO]." []	1165819	\N	\N	EFO	3	EFO	organism part	bronchiole
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002186	"the first airway branch that no longer contains cartilage; it is a branch of the bronchus[GO]." []	2049744	\N	\N	EFO	4	EFO	material entity	bronchiole
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002186	"the first airway branch that no longer contains cartilage; it is a branch of the bronchus[GO]." []	3199720	\N	\N	EFO	5	EFO	experimental factor	bronchiole
UBERON:0002200	\N	\N	"" []	UBERON:0002200	"" []	79859	\N	\N	EFO	0	EFO	cranial vasculature	cranial vasculature
EFO:0003331	UBERON:0002200	\N	"" []	UBERON:0002200	"" []	224852	\N	\N	EFO	1	EFO	zebrafish component	cranial vasculature
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0002200	"" []	581772	\N	\N	EFO	2	EFO	animal component	cranial vasculature
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0002200	"" []	1165820	\N	\N	EFO	3	EFO	anatomy basic component	cranial vasculature
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002200	"" []	2049745	\N	\N	EFO	4	EFO	organism part	cranial vasculature
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002200	"" []	3199721	\N	\N	EFO	5	EFO	material entity	cranial vasculature
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002200	"" []	4404809	\N	\N	EFO	6	EFO	experimental factor	cranial vasculature
UBERON:0002214	\N	\N	"Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. The macula utricle senses linear acceleration and gravity.  The macula utricle covers most of the floor of the utricle." []	UBERON:0002214	"Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. The macula utricle senses linear acceleration and gravity.  The macula utricle covers most of the floor of the utricle." []	79861	\N	\N	EFO	0	EFO	macula utricle	macula utricle
EFO:0003331	UBERON:0002214	\N	"" []	UBERON:0002214	"Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. The macula utricle senses linear acceleration and gravity.  The macula utricle covers most of the floor of the utricle." []	224853	\N	\N	EFO	1	EFO	zebrafish component	macula utricle
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0002214	"Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. The macula utricle senses linear acceleration and gravity.  The macula utricle covers most of the floor of the utricle." []	581773	\N	\N	EFO	2	EFO	animal component	macula utricle
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0002214	"Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. The macula utricle senses linear acceleration and gravity.  The macula utricle covers most of the floor of the utricle." []	1165821	\N	\N	EFO	3	EFO	anatomy basic component	macula utricle
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002214	"Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. The macula utricle senses linear acceleration and gravity.  The macula utricle covers most of the floor of the utricle." []	2049746	\N	\N	EFO	4	EFO	organism part	macula utricle
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002214	"Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. The macula utricle senses linear acceleration and gravity.  The macula utricle covers most of the floor of the utricle." []	3199722	\N	\N	EFO	5	EFO	material entity	macula utricle
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002214	"Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. The macula utricle senses linear acceleration and gravity.  The macula utricle covers most of the floor of the utricle." []	4404810	\N	\N	EFO	6	EFO	experimental factor	macula utricle
UBERON:0002227	\N	\N	"The organ of Corti (or spiral organ) is the organ in the inner ear of mammals that contains auditory sensory cells, or 'hair cells.' [WP,unvetted]." []	UBERON:0002227	"The organ of Corti (or spiral organ) is the organ in the inner ear of mammals that contains auditory sensory cells, or 'hair cells.' [WP,unvetted]." []	79862	\N	\N	EFO	0	EFO	spiral organ of cochlea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	spiral organ of cochlea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001846	\N	\N	"The essential organ of hearing and equilibrium that is located in the temporal bone, is innervated by the auditory nerve, and includes the vestibule, the semicircular canals, and the cochlea." []	UBERON:0002227	"The organ of Corti (or spiral organ) is the organ in the inner ear of mammals that contains auditory sensory cells, or 'hair cells.' [WP,unvetted]." []	196114	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	internal ear	spiral organ of cochlea {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0002228	\N	\N	"An intersegmental rod-shaped bone that forms in the peritoneal membrane and attach to the vertebral parapophyses." []	UBERON:0002228	"An intersegmental rod-shaped bone that forms in the peritoneal membrane and attach to the vertebral parapophyses." []	79863	\N	\N	EFO	0	EFO	rib {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	rib {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0002091	\N	\N	"Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]." [https://orcid.org/0000-0002-6601-2165, UBERONREF:0000003, Wikipedia:Appendicular_skeleton]	UBERON:0002228	"An intersegmental rod-shaped bone that forms in the peritoneal membrane and attach to the vertebral parapophyses." []	196115	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	appendicular skeleton	rib {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0002282	\N	\N	"The upper portion of the spiral ligament contains numerous capillary loops and small blood vessels, and is termed the stria vascularis. It produces endolymph for the scala media, one of the three fluid-filled compartments of the cochlea." []	UBERON:0002282	"The upper portion of the spiral ligament contains numerous capillary loops and small blood vessels, and is termed the stria vascularis. It produces endolymph for the scala media, one of the three fluid-filled compartments of the cochlea." []	79867	\N	\N	EFO	0	EFO	stria vascularis of cochlear duct {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	stria vascularis of cochlear duct {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001846	\N	\N	"The essential organ of hearing and equilibrium that is located in the temporal bone, is innervated by the auditory nerve, and includes the vestibule, the semicircular canals, and the cochlea." []	UBERON:0002282	"The upper portion of the spiral ligament contains numerous capillary loops and small blood vessels, and is termed the stria vascularis. It produces endolymph for the scala media, one of the three fluid-filled compartments of the cochlea." []	196119	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	internal ear	stria vascularis of cochlear duct {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0002285	\N	\N	"A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere" []	UBERON:0002285	"A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere" []	79868	\N	\N	EFO	0	EFO	telencephalic ventricle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	telencephalic ventricle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0004086	\N	\N	"one of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid" []	UBERON:0002285	"A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere" []	196120	\N	efo_slim	EFO	0	EFO	brain ventricle	telencephalic ventricle {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0002289	\N	\N	"" []	UBERON:0002289	"" []	79869	\N	\N	EFO	0	EFO	tectal ventricle	tectal ventricle
EFO:0003331	UBERON:0002289	\N	"" []	UBERON:0002289	"" []	224854	\N	\N	EFO	1	EFO	zebrafish component	tectal ventricle
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0002289	"" []	581774	\N	\N	EFO	2	EFO	animal component	tectal ventricle
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0002289	"" []	1165822	\N	\N	EFO	3	EFO	anatomy basic component	tectal ventricle
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002289	"" []	2049747	\N	\N	EFO	4	EFO	organism part	tectal ventricle
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002289	"" []	3199723	\N	\N	EFO	5	EFO	material entity	tectal ventricle
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002289	"" []	4404811	\N	\N	EFO	6	EFO	experimental factor	tectal ventricle
UBERON:0002294	\N	\N	"Anatomical system that consists of the organs and ducts (bile ducts, gallbladder, and associated structures) that are involved in the production and transportation of bile." []	UBERON:0002294	"Anatomical system that consists of the organs and ducts (bile ducts, gallbladder, and associated structures) that are involved in the production and transportation of bile." []	79870	\N	\N	EFO	0	EFO	biliary system	biliary system
UBERON:0000467	UBERON:0002294	\N	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0002294	"Anatomical system that consists of the organs and ducts (bile ducts, gallbladder, and associated structures) that are involved in the production and transportation of bile." []	224855	\N	\N	EFO	1	EFO	anatomical system	biliary system
EFO:0000787	UBERON:0000467	\N	"" []	UBERON:0002294	"Anatomical system that consists of the organs and ducts (bile ducts, gallbladder, and associated structures) that are involved in the production and transportation of bile." []	581775	\N	\N	EFO	2	EFO	animal component	biliary system
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0002294	"Anatomical system that consists of the organs and ducts (bile ducts, gallbladder, and associated structures) that are involved in the production and transportation of bile." []	1165823	\N	\N	EFO	3	EFO	anatomy basic component	biliary system
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002294	"Anatomical system that consists of the organs and ducts (bile ducts, gallbladder, and associated structures) that are involved in the production and transportation of bile." []	2049748	\N	\N	EFO	4	EFO	organism part	biliary system
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002294	"Anatomical system that consists of the organs and ducts (bile ducts, gallbladder, and associated structures) that are involved in the production and transportation of bile." []	3199724	\N	\N	EFO	5	EFO	material entity	biliary system
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002294	"Anatomical system that consists of the organs and ducts (bile ducts, gallbladder, and associated structures) that are involved in the production and transportation of bile." []	4404812	\N	\N	EFO	6	EFO	experimental factor	biliary system
UBERON:0002299	\N	\N	"" []	UBERON:0002299	"" []	79872	\N	\N	EFO	0	EFO	alveolus of lung	alveolus of lung
UBERON:0003215	\N	\N	"organ part that has the form of a hollow cavity[WP]." [Wikipedia:Alveolus]	UBERON:0002299	"" []	196122	\N	efo_slim	EFO	0	EFO	alveolus	alveolus of lung
UBERON:0002302	\N	\N	"" []	UBERON:0002302	"" []	79873	\N	\N	EFO	0	EFO	atrial myocardium	atrial myocardium
UBERON:0002349	\N	\N	"middle muscular layer of the heart wall[M-W]. Muscle layer of organ which has as its parts the myocardium proper and the conducting system of the heart[FMA]." [Wikipedia:Myocardium]	UBERON:0002302	"" []	196123	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	myocardium	atrial myocardium
UBERON:0002350	\N	\N	"An impulse-conducting system composed of modified cardiac muscle, having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart." []	UBERON:0002350	"An impulse-conducting system composed of modified cardiac muscle, having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart." []	79880	\N	\N	EFO	0	EFO	heart conduction system	heart conduction system
EFO:0001955	UBERON:0002350	\N	"A heart component is an animal component that is part of some heart." []	UBERON:0002350	"An impulse-conducting system composed of modified cardiac muscle, having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart." []	224856	\N	\N	EFO	1	EFO	heart component	heart conduction system
UBERON:0002358	\N	efo_slim,uberon_slim	"A serous membrane that lines the peritoneal cavity" []	UBERON:0002358	"A serous membrane that lines the peritoneal cavity" []	79884	\N	efo_slim,uberon_slim	EFO	0	EFO	peritoneum	peritoneum
EFO:0000787	UBERON:0002358	efo_slim,uberon_slim	"" []	UBERON:0002358	"A serous membrane that lines the peritoneal cavity" []	224857	efo_slim,uberon_slim	\N	EFO	1	EFO	animal component	peritoneum
EFO:0000786	EFO:0000787	efo_slim,uberon_slim	"" []	UBERON:0002358	"A serous membrane that lines the peritoneal cavity" []	581776	\N	\N	EFO	2	EFO	anatomy basic component	peritoneum
EFO:0000635	EFO:0000786	efo_slim,uberon_slim	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002358	"A serous membrane that lines the peritoneal cavity" []	1165824	\N	\N	EFO	3	EFO	organism part	peritoneum
BFO:0000040	EFO:0000635	efo_slim,uberon_slim	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002358	"A serous membrane that lines the peritoneal cavity" []	2049749	\N	\N	EFO	4	EFO	material entity	peritoneum
EFO:0000001	BFO:0000040	efo_slim,uberon_slim	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002358	"A serous membrane that lines the peritoneal cavity" []	3199725	\N	\N	EFO	5	EFO	experimental factor	peritoneum
UBERON:0002381	\N	\N	"The pectoralis major is a thick, fan-shaped muscle, situated at the upper front of the chest wall. It makes up the bulk of the chest muscles in the male and lies under the breast in the female. Underneath the pectoralis major is the pectoralis minor, a thin, triangular muscle. [WP,unvetted]." []	UBERON:0002381	"The pectoralis major is a thick, fan-shaped muscle, situated at the upper front of the chest wall. It makes up the bulk of the chest muscles in the male and lies under the breast in the female. Underneath the pectoralis major is the pectoralis minor, a thin, triangular muscle. [WP,unvetted]." []	79893	\N	\N	EFO	0	EFO	pectoralis major	pectoralis major
UBERON:0001495	UBERON:0002381	\N	"Muscles of the upper chest. The term may refer to one of two muscles, the pectoralis major and pectoralis minor. The former is a thick muscle in the anterior portion of the chest. Its action involves flexion, medial rotation, and adduction of the humerus. The latter is a thin muscle located beneath the pectoralis major. Its action involves lowering the scapula and raising the ribs. This currently groups the major and minor muscles (which have different attachment sites) as well as the AAO structure: Muscle which is comprised of three heads. The anterior head is the portio epicoracoidea that originates on the epicoracoid cartilage and inserts on the deltoid crest of the humerus. The next more posterior head, portio sternalis, originates on the sternum and inserts in the groove next to the deltoid crest of the humerus. The most posterior head, portio abdominalis, arises from the M. rectus abdominis and inserts on the deltoid crest of the humerus." []	UBERON:0002381	"The pectoralis major is a thick, fan-shaped muscle, situated at the upper front of the chest wall. It makes up the bulk of the chest muscles in the male and lies under the breast in the female. Underneath the pectoralis major is the pectoralis minor, a thin, triangular muscle. [WP,unvetted]." []	224858	\N	\N	EFO	1	EFO	pectoral muscle	pectoralis major
UBERON:0014892	UBERON:0001495	\N	"A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles)." []	UBERON:0002381	"The pectoralis major is a thick, fan-shaped muscle, situated at the upper front of the chest wall. It makes up the bulk of the chest muscles in the male and lies under the breast in the female. Underneath the pectoralis major is the pectoralis minor, a thin, triangular muscle. [WP,unvetted]." []	581777	\N	\N	EFO	2	EFO	skeletal muscle organ	pectoralis major
UBERON:0002386	\N	\N	"" []	UBERON:0002386	"" []	79894	\N	\N	EFO	0	EFO	forearm	forearm
UBERON:0001460	UBERON:0002386	\N	"The portion of the upper extremity between the shoulder and the elbow. For clinical purposes this term is also used to refer to the whole superior limb." []	UBERON:0002386	"" []	224859	\N	\N	EFO	1	EFO	arm	forearm
UBERON:0002387	\N	\N	"" []	UBERON:0002387	"" []	79895	\N	\N	EFO	0	EFO	foot	foot
UBERON:0000026	\N	\N	"Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS]	UBERON:0002387	"" []	196136	\N	efo_slim,uberon_slim	EFO	0	EFO	appendage	foot
UBERON:0002390	\N	\N	"Anatomical system that is involved in the production of hematopoietic cells. [ Haematopoiesis ] " []	UBERON:0002390	"Anatomical system that is involved in the production of hematopoietic cells. [ Haematopoiesis ] " []	79896	\N	\N	EFO	0	EFO	hematopoietic system	hematopoietic system
UBERON:0000467	UBERON:0002390	\N	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0002390	"Anatomical system that is involved in the production of hematopoietic cells. [ Haematopoiesis ] " []	224860	\N	\N	EFO	1	EFO	anatomical system	hematopoietic system
EFO:0000787	UBERON:0000467	\N	"" []	UBERON:0002390	"Anatomical system that is involved in the production of hematopoietic cells. [ Haematopoiesis ] " []	581778	\N	\N	EFO	2	EFO	animal component	hematopoietic system
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0002390	"Anatomical system that is involved in the production of hematopoietic cells. [ Haematopoiesis ] " []	1165825	\N	\N	EFO	3	EFO	anatomy basic component	hematopoietic system
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002390	"Anatomical system that is involved in the production of hematopoietic cells. [ Haematopoiesis ] " []	2049750	\N	\N	EFO	4	EFO	organism part	hematopoietic system
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002390	"Anatomical system that is involved in the production of hematopoietic cells. [ Haematopoiesis ] " []	3199726	\N	\N	EFO	5	EFO	material entity	hematopoietic system
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002390	"Anatomical system that is involved in the production of hematopoietic cells. [ Haematopoiesis ] " []	4404813	\N	\N	EFO	6	EFO	experimental factor	hematopoietic system
UBERON:0002394	\N	efo_slim,uberon_slim	"Duct that carries bile from the liver to the small intestine" []	UBERON:0002394	"Duct that carries bile from the liver to the small intestine" []	79898	\N	efo_slim,uberon_slim	EFO	0	EFO	bile duct	bile duct
UBERON:6007435	UBERON:0002394	efo_slim,uberon_slim	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0002394	"Duct that carries bile from the liver to the small intestine" []	224861	efo_slim,uberon_slim	\N	EFO	1	EFO	endocrine system component	bile duct
EFO:0000787	UBERON:6007435	efo_slim,uberon_slim	"" []	UBERON:0002394	"Duct that carries bile from the liver to the small intestine" []	581779	\N	\N	EFO	2	EFO	animal component	bile duct
EFO:0000786	EFO:0000787	efo_slim,uberon_slim	"" []	UBERON:0002394	"Duct that carries bile from the liver to the small intestine" []	1165826	\N	\N	EFO	3	EFO	anatomy basic component	bile duct
EFO:0000635	EFO:0000786	efo_slim,uberon_slim	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002394	"Duct that carries bile from the liver to the small intestine" []	2049751	\N	\N	EFO	4	EFO	organism part	bile duct
BFO:0000040	EFO:0000635	efo_slim,uberon_slim	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002394	"Duct that carries bile from the liver to the small intestine" []	3199727	\N	\N	EFO	5	EFO	material entity	bile duct
EFO:0000001	BFO:0000040	efo_slim,uberon_slim	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002394	"Duct that carries bile from the liver to the small intestine" []	4404814	\N	\N	EFO	6	EFO	experimental factor	bile duct
UBERON:0002405	\N	\N	"Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies." []	UBERON:0002405	"Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies." []	79899	\N	\N	EFO	0	EFO	immune system	immune system
UBERON:0000467	UBERON:0002405	\N	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0002405	"Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies." []	224862	\N	\N	EFO	1	EFO	anatomical system	immune system
EFO:0000787	UBERON:0000467	\N	"" []	UBERON:0002405	"Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies." []	581780	\N	\N	EFO	2	EFO	animal component	immune system
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0002405	"Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies." []	1165827	\N	\N	EFO	3	EFO	anatomy basic component	immune system
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002405	"Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies." []	2049752	\N	\N	EFO	4	EFO	organism part	immune system
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002405	"Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies." []	3199728	\N	\N	EFO	5	EFO	material entity	immune system
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002405	"Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies." []	4404815	\N	\N	EFO	6	EFO	experimental factor	immune system
UBERON:0002421	\N	\N	"Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]. [ https://orcid.org/0000-0002-6601-2165 ]" []	UBERON:0002421	"Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]. [ https://orcid.org/0000-0002-6601-2165 ]" []	79905	\N	\N	EFO	0	EFO	hippocampal formation	hippocampal formation
UBERON:0000467	UBERON:0002421	\N	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0002421	"Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]. [ https://orcid.org/0000-0002-6601-2165 ]" []	224863	\N	\N	EFO	1	EFO	anatomical system	hippocampal formation
EFO:0000787	UBERON:0000467	\N	"" []	UBERON:0002421	"Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]. [ https://orcid.org/0000-0002-6601-2165 ]" []	581781	\N	\N	EFO	2	EFO	animal component	hippocampal formation
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0002421	"Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]. [ https://orcid.org/0000-0002-6601-2165 ]" []	1165828	\N	\N	EFO	3	EFO	anatomy basic component	hippocampal formation
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002421	"Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]. [ https://orcid.org/0000-0002-6601-2165 ]" []	2049753	\N	\N	EFO	4	EFO	organism part	hippocampal formation
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002421	"Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]. [ https://orcid.org/0000-0002-6601-2165 ]" []	3199729	\N	\N	EFO	5	EFO	material entity	hippocampal formation
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002421	"Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]. [ https://orcid.org/0000-0002-6601-2165 ]" []	4404816	\N	\N	EFO	6	EFO	experimental factor	hippocampal formation
UBERON:0002509	\N	\N	"The lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group. [ MP:0005232 ]" []	UBERON:0002509	"The lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group. [ MP:0005232 ]" []	79911	\N	\N	EFO	0	EFO	mesenteric lymph node	mesenteric lymph node
UBERON:0000029	\N	\N	"Oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system. Lymph nodes are garrisons of B, T, and other immune cells. Lymph nodes are found all through the body, and act as filters or traps for foreign particles. They contain white blood cells that use oxygen to process. Thus they are important in the proper functioning of the immune system. The lymph node is surrounded by a fibrous capsule, and inside the lymph node the fibrous capsule extends to form trabeculae. The substance of the lymph node is divided into the outer cortex and the inner medulla surrounded by the former all around except for at the hilum, where the medulla comes in direct contact with the surface. Thin reticular fibers, elastin and reticular fibers form a supporting meshwork called reticular network (RN) inside the node, within which the white blood cells (WBCs), most prominently, lymphocytes are tightly packed as follicles in the cortex. Elsewhere, there are only occasional WBCs. The RN provides not just the structural support, but also provide surface for adhesion of the dendritic cells, macrophages and lymphocytes. It allows for exchange of material with blood through the high endothelial venules and provides the growth and regulatory factors necessary for activation and maturation of immune cells[WP]." [GAID:947, Wikipedia:Lymph_node]	UBERON:0002509	"The lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group. [ MP:0005232 ]" []	196147	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	lymph node	mesenteric lymph node
UBERON:0002531	\N	\N	"" []	UBERON:0002531	"" []	79915	\N	\N	EFO	0	EFO	fin bud	fin bud
EFO:0003332	UBERON:0002531	\N	"" []	UBERON:0002531	"" []	224864	\N	\N	EFO	1	EFO	zebrafish embryonic structure	fin bud
EFO:0003331	EFO:0003332	\N	"" []	UBERON:0002531	"" []	581782	\N	\N	EFO	2	EFO	zebrafish component	fin bud
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0002531	"" []	1165829	\N	\N	EFO	3	EFO	animal component	fin bud
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0002531	"" []	2049754	\N	\N	EFO	4	EFO	anatomy basic component	fin bud
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002531	"" []	3199730	\N	\N	EFO	5	EFO	organism part	fin bud
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002531	"" []	4404817	\N	\N	EFO	6	EFO	material entity	fin bud
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002531	"" []	5420271	\N	\N	EFO	7	EFO	experimental factor	fin bud
UBERON:0002536	\N	\N	"Defined by Snodgrass as \\"a simple sense organ, or one of the structural units of a compound sense organ,\\" and by Schneider as \\"a specialized area of the integument, consisting of formative cells, the sensory nerve cells, and, in some cases, auxiliary cells\\".\\nand by Schneider as A simple epithelial sense organ of an invertebrate (as an insect) usually in the form of a spine, plate, rod, cone, or peg that is composed of one or a few cells with a nerve connection." []	UBERON:0002536	"Defined by Snodgrass as \\"a simple sense organ, or one of the structural units of a compound sense organ,\\" and by Schneider as \\"a specialized area of the integument, consisting of formative cells, the sensory nerve cells, and, in some cases, auxiliary cells\\".\\nand by Schneider as A simple epithelial sense organ of an invertebrate (as an insect) usually in the form of a spine, plate, rod, cone, or peg that is composed of one or a few cells with a nerve connection." []	79917	\N	\N	EFO	0	EFO	sensillum	sensillum
UBERON:0001032	\N	\N	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	UBERON:0002536	"Defined by Snodgrass as \\"a simple sense organ, or one of the structural units of a compound sense organ,\\" and by Schneider as \\"a specialized area of the integument, consisting of formative cells, the sensory nerve cells, and, in some cases, auxiliary cells\\".\\nand by Schneider as A simple epithelial sense organ of an invertebrate (as an insect) usually in the form of a spine, plate, rod, cone, or peg that is composed of one or a few cells with a nerve connection." []	196151	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	sensory system	sensillum
UBERON:0002827	\N	\N	"The sensory ganglion of the ear. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/stato/stato.html'>statoacoustic ganglion</a> by T. Whitfield.)" []	UBERON:0002827	"The sensory ganglion of the ear. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/stato/stato.html'>statoacoustic ganglion</a> by T. Whitfield.)" []	79933	\N	\N	EFO	0	EFO	statoacoustic (VIII) ganglion	statoacoustic (VIII) ganglion
EFO:0003331	UBERON:0002827	\N	"" []	UBERON:0002827	"The sensory ganglion of the ear. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/stato/stato.html'>statoacoustic ganglion</a> by T. Whitfield.)" []	224865	\N	\N	EFO	1	EFO	zebrafish component	statoacoustic (VIII) ganglion
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0002827	"The sensory ganglion of the ear. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/stato/stato.html'>statoacoustic ganglion</a> by T. Whitfield.)" []	581783	\N	\N	EFO	2	EFO	animal component	statoacoustic (VIII) ganglion
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0002827	"The sensory ganglion of the ear. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/stato/stato.html'>statoacoustic ganglion</a> by T. Whitfield.)" []	1165830	\N	\N	EFO	3	EFO	anatomy basic component	statoacoustic (VIII) ganglion
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0002827	"The sensory ganglion of the ear. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/stato/stato.html'>statoacoustic ganglion</a> by T. Whitfield.)" []	2049755	\N	\N	EFO	4	EFO	organism part	statoacoustic (VIII) ganglion
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0002827	"The sensory ganglion of the ear. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/stato/stato.html'>statoacoustic ganglion</a> by T. Whitfield.)" []	3199731	\N	\N	EFO	5	EFO	material entity	statoacoustic (VIII) ganglion
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0002827	"The sensory ganglion of the ear. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/stato/stato.html'>statoacoustic ganglion</a> by T. Whitfield.)" []	4404818	\N	\N	EFO	6	EFO	experimental factor	statoacoustic (VIII) ganglion
UBERON:0003040	\N	\N	"Periaqueductal gray (PAG; also called the 'central gray') is the gray matter located around the cerebral aqueduct within the midbrain. It plays a role in the descending modulation of pain and in defensive behaviour. The ascending pain and temperature fibers of the spinothalamic tract also send information to the PAG via the spinomesencephalic tract. The spinomesencephalic tract is so-named because the fibers originate in the spine and terminate in the mesencephalon, another name for the midbrain, the part of the brain in which the PAG resides." []	UBERON:0003040	"Periaqueductal gray (PAG; also called the 'central gray') is the gray matter located around the cerebral aqueduct within the midbrain. It plays a role in the descending modulation of pain and in defensive behaviour. The ascending pain and temperature fibers of the spinothalamic tract also send information to the PAG via the spinomesencephalic tract. The spinomesencephalic tract is so-named because the fibers originate in the spine and terminate in the mesencephalon, another name for the midbrain, the part of the brain in which the PAG resides." []	79936	\N	\N	EFO	0	EFO	central gray substance of midbrain {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	central gray substance of midbrain {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000955	\N	\N	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	UBERON:0003040	"Periaqueductal gray (PAG; also called the 'central gray') is the gray matter located around the cerebral aqueduct within the midbrain. It plays a role in the descending modulation of pain and in defensive behaviour. The ascending pain and temperature fibers of the spinothalamic tract also send information to the PAG via the spinomesencephalic tract. The spinomesencephalic tract is so-named because the fibers originate in the spine and terminate in the mesencephalon, another name for the midbrain, the part of the brain in which the PAG resides." []	196166	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	EFO	0	EFO	brain	central gray substance of midbrain {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0003071	\N	\N	"Portion of tissue that is part of the anterior neural keel and will form the optic vesicle." []	UBERON:0003071	"Portion of tissue that is part of the anterior neural keel and will form the optic vesicle." []	79946	\N	\N	EFO	0	EFO	optic primordium	optic primordium
EFO:0003331	UBERON:0003071	\N	"" []	UBERON:0003071	"Portion of tissue that is part of the anterior neural keel and will form the optic vesicle." []	224866	\N	\N	EFO	1	EFO	zebrafish component	optic primordium
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0003071	"Portion of tissue that is part of the anterior neural keel and will form the optic vesicle." []	581784	\N	\N	EFO	2	EFO	animal component	optic primordium
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0003071	"Portion of tissue that is part of the anterior neural keel and will form the optic vesicle." []	1165831	\N	\N	EFO	3	EFO	anatomy basic component	optic primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0003071	"Portion of tissue that is part of the anterior neural keel and will form the optic vesicle." []	2049756	\N	\N	EFO	4	EFO	organism part	optic primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0003071	"Portion of tissue that is part of the anterior neural keel and will form the optic vesicle." []	3199732	\N	\N	EFO	5	EFO	material entity	optic primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0003071	"Portion of tissue that is part of the anterior neural keel and will form the optic vesicle." []	4404819	\N	\N	EFO	6	EFO	experimental factor	optic primordium
UBERON:0003153	\N	\N	"The head in most insects is enclosed in a hard, heavily sclerotized, exoskeletal head capsule, or epicranium." []	UBERON:0003153	"The head in most insects is enclosed in a hard, heavily sclerotized, exoskeletal head capsule, or epicranium." []	79959	\N	\N	EFO	0	EFO	head capsule {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	head capsule {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000033	\N	\N	"The head is the anterior-most division of the body [GO]." [GO:0060322, Wikipedia:Head]	UBERON:0003153	"The head in most insects is enclosed in a hard, heavily sclerotized, exoskeletal head capsule, or epicranium." []	196185	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	head	head capsule {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0003306	\N	\N	"Floor plate that is part of the neural tube." []	UBERON:0003306	"Floor plate that is part of the neural tube." []	79961	\N	\N	EFO	0	EFO	floor plate neural tube	floor plate neural tube
EFO:0003331	UBERON:0003306	\N	"" []	UBERON:0003306	"Floor plate that is part of the neural tube." []	224867	\N	\N	EFO	1	EFO	zebrafish component	floor plate neural tube
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0003306	"Floor plate that is part of the neural tube." []	581785	\N	\N	EFO	2	EFO	animal component	floor plate neural tube
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0003306	"Floor plate that is part of the neural tube." []	1165832	\N	\N	EFO	3	EFO	anatomy basic component	floor plate neural tube
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0003306	"Floor plate that is part of the neural tube." []	2049757	\N	\N	EFO	4	EFO	organism part	floor plate neural tube
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0003306	"Floor plate that is part of the neural tube." []	3199733	\N	\N	EFO	5	EFO	material entity	floor plate neural tube
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0003306	"Floor plate that is part of the neural tube." []	4404820	\N	\N	EFO	6	EFO	experimental factor	floor plate neural tube
UBERON:0003464	\N	\N	"The bones of the upper and lower LEG. They include the PELVIC BONES." []	UBERON:0003464	"The bones of the upper and lower LEG. They include the PELVIC BONES." []	79963	\N	\N	EFO	0	EFO	bone of lower extremity	bone of lower extremity
UBERON:0002428	\N	\N	"A bone that is part of a limb [Automatically generated definition]." [OBOL:automatic]	UBERON:0003464	"The bones of the upper and lower LEG. They include the PELVIC BONES." []	196188	\N	efo_slim	EFO	0	EFO	limb bone	bone of lower extremity
UBERON:0003499	\N	\N	"A blood vessel that is part of a brain [Automatically generated definition]." []	UBERON:0003499	"A blood vessel that is part of a brain [Automatically generated definition]." []	79964	\N	\N	EFO	0	EFO	brain blood vessel	brain blood vessel
UBERON:0001637	\N	\N	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0003499	"A blood vessel that is part of a brain [Automatically generated definition]." []	196189	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	artery	brain blood vessel
UBERON:0003684	\N	efo_slim,uberon_slim	" body cavity of the human body (and animal bodies) that holds the bulk of the viscera. It is located below (or inferior to) the thoracic cavity, and above the pelvic cavity. It is a part of the abdominopelvic cavity. Organs of the abdominal cavity include the stomach, liver, gallbladder, spleen, pancreas, small intestine, kidneys, and large intestine. The abdominal cavity is lined with a protective membrane termed the peritoneum. The kidneys are located in the abdominal cavity behind the peritoneum, in the retroperitoneum. The viscera are also covered, in the front, with a layer of peritoneum called the greater omentum (or omental apron). [database_cross_reference: http://en.wikipedia.org/wiki/Abdominal_cavity]" []	UBERON:0003684	" body cavity of the human body (and animal bodies) that holds the bulk of the viscera. It is located below (or inferior to) the thoracic cavity, and above the pelvic cavity. It is a part of the abdominopelvic cavity. Organs of the abdominal cavity include the stomach, liver, gallbladder, spleen, pancreas, small intestine, kidneys, and large intestine. The abdominal cavity is lined with a protective membrane termed the peritoneum. The kidneys are located in the abdominal cavity behind the peritoneum, in the retroperitoneum. The viscera are also covered, in the front, with a layer of peritoneum called the greater omentum (or omental apron). [database_cross_reference: http://en.wikipedia.org/wiki/Abdominal_cavity]" []	79967	\N	efo_slim,uberon_slim	EFO	0	EFO	abdominal cavity	abdominal cavity
EFO:0000787	UBERON:0003684	efo_slim,uberon_slim	"" []	UBERON:0003684	" body cavity of the human body (and animal bodies) that holds the bulk of the viscera. It is located below (or inferior to) the thoracic cavity, and above the pelvic cavity. It is a part of the abdominopelvic cavity. Organs of the abdominal cavity include the stomach, liver, gallbladder, spleen, pancreas, small intestine, kidneys, and large intestine. The abdominal cavity is lined with a protective membrane termed the peritoneum. The kidneys are located in the abdominal cavity behind the peritoneum, in the retroperitoneum. The viscera are also covered, in the front, with a layer of peritoneum called the greater omentum (or omental apron). [database_cross_reference: http://en.wikipedia.org/wiki/Abdominal_cavity]" []	224868	efo_slim,uberon_slim	\N	EFO	1	EFO	animal component	abdominal cavity
EFO:0000786	EFO:0000787	efo_slim,uberon_slim	"" []	UBERON:0003684	" body cavity of the human body (and animal bodies) that holds the bulk of the viscera. It is located below (or inferior to) the thoracic cavity, and above the pelvic cavity. It is a part of the abdominopelvic cavity. Organs of the abdominal cavity include the stomach, liver, gallbladder, spleen, pancreas, small intestine, kidneys, and large intestine. The abdominal cavity is lined with a protective membrane termed the peritoneum. The kidneys are located in the abdominal cavity behind the peritoneum, in the retroperitoneum. The viscera are also covered, in the front, with a layer of peritoneum called the greater omentum (or omental apron). [database_cross_reference: http://en.wikipedia.org/wiki/Abdominal_cavity]" []	581786	\N	\N	EFO	2	EFO	anatomy basic component	abdominal cavity
EFO:0000635	EFO:0000786	efo_slim,uberon_slim	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0003684	" body cavity of the human body (and animal bodies) that holds the bulk of the viscera. It is located below (or inferior to) the thoracic cavity, and above the pelvic cavity. It is a part of the abdominopelvic cavity. Organs of the abdominal cavity include the stomach, liver, gallbladder, spleen, pancreas, small intestine, kidneys, and large intestine. The abdominal cavity is lined with a protective membrane termed the peritoneum. The kidneys are located in the abdominal cavity behind the peritoneum, in the retroperitoneum. The viscera are also covered, in the front, with a layer of peritoneum called the greater omentum (or omental apron). [database_cross_reference: http://en.wikipedia.org/wiki/Abdominal_cavity]" []	1165833	\N	\N	EFO	3	EFO	organism part	abdominal cavity
BFO:0000040	EFO:0000635	efo_slim,uberon_slim	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0003684	" body cavity of the human body (and animal bodies) that holds the bulk of the viscera. It is located below (or inferior to) the thoracic cavity, and above the pelvic cavity. It is a part of the abdominopelvic cavity. Organs of the abdominal cavity include the stomach, liver, gallbladder, spleen, pancreas, small intestine, kidneys, and large intestine. The abdominal cavity is lined with a protective membrane termed the peritoneum. The kidneys are located in the abdominal cavity behind the peritoneum, in the retroperitoneum. The viscera are also covered, in the front, with a layer of peritoneum called the greater omentum (or omental apron). [database_cross_reference: http://en.wikipedia.org/wiki/Abdominal_cavity]" []	2049758	\N	\N	EFO	4	EFO	material entity	abdominal cavity
EFO:0000001	BFO:0000040	efo_slim,uberon_slim	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0003684	" body cavity of the human body (and animal bodies) that holds the bulk of the viscera. It is located below (or inferior to) the thoracic cavity, and above the pelvic cavity. It is a part of the abdominopelvic cavity. Organs of the abdominal cavity include the stomach, liver, gallbladder, spleen, pancreas, small intestine, kidneys, and large intestine. The abdominal cavity is lined with a protective membrane termed the peritoneum. The kidneys are located in the abdominal cavity behind the peritoneum, in the retroperitoneum. The viscera are also covered, in the front, with a layer of peritoneum called the greater omentum (or omental apron). [database_cross_reference: http://en.wikipedia.org/wiki/Abdominal_cavity]" []	3199734	\N	\N	EFO	5	EFO	experimental factor	abdominal cavity
UBERON:0003688	\N	\N	"A fold of peritoneum originating at the stomach and supporting the viscera. [ ncithesaurus:Omentum ]" []	UBERON:0003688	"A fold of peritoneum originating at the stomach and supporting the viscera. [ ncithesaurus:Omentum ]" []	79968	\N	\N	EFO	0	EFO	omentum	omentum
EFO:0000787	UBERON:0003688	\N	"" []	UBERON:0003688	"A fold of peritoneum originating at the stomach and supporting the viscera. [ ncithesaurus:Omentum ]" []	224869	\N	\N	EFO	1	EFO	animal component	omentum
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0003688	"A fold of peritoneum originating at the stomach and supporting the viscera. [ ncithesaurus:Omentum ]" []	581787	\N	\N	EFO	2	EFO	anatomy basic component	omentum
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0003688	"A fold of peritoneum originating at the stomach and supporting the viscera. [ ncithesaurus:Omentum ]" []	1165834	\N	\N	EFO	3	EFO	organism part	omentum
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0003688	"A fold of peritoneum originating at the stomach and supporting the viscera. [ ncithesaurus:Omentum ]" []	2049759	\N	\N	EFO	4	EFO	material entity	omentum
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0003688	"A fold of peritoneum originating at the stomach and supporting the viscera. [ ncithesaurus:Omentum ]" []	3199735	\N	\N	EFO	5	EFO	experimental factor	omentum
UBERON:0003693	\N	\N	"The retroperitoneum (or extraperitoneum) is the anatomical space in the abdominal cavity behind (retro) the peritoneum. [wikipedia: http://en.wikipedia.org/wiki/Retroperitoneum]" []	UBERON:0003693	"The retroperitoneum (or extraperitoneum) is the anatomical space in the abdominal cavity behind (retro) the peritoneum. [wikipedia: http://en.wikipedia.org/wiki/Retroperitoneum]" []	79970	\N	\N	EFO	0	EFO	retroperitoneum	retroperitoneum
UBERON:0003684	UBERON:0003693	\N	" body cavity of the human body (and animal bodies) that holds the bulk of the viscera. It is located below (or inferior to) the thoracic cavity, and above the pelvic cavity. It is a part of the abdominopelvic cavity. Organs of the abdominal cavity include the stomach, liver, gallbladder, spleen, pancreas, small intestine, kidneys, and large intestine. The abdominal cavity is lined with a protective membrane termed the peritoneum. The kidneys are located in the abdominal cavity behind the peritoneum, in the retroperitoneum. The viscera are also covered, in the front, with a layer of peritoneum called the greater omentum (or omental apron). [database_cross_reference: http://en.wikipedia.org/wiki/Abdominal_cavity]" []	UBERON:0003693	"The retroperitoneum (or extraperitoneum) is the anatomical space in the abdominal cavity behind (retro) the peritoneum. [wikipedia: http://en.wikipedia.org/wiki/Retroperitoneum]" []	224870	\N	efo_slim,uberon_slim	EFO	1	EFO	abdominal cavity	retroperitoneum
EFO:0000787	UBERON:0003684	\N	"" []	UBERON:0003693	"The retroperitoneum (or extraperitoneum) is the anatomical space in the abdominal cavity behind (retro) the peritoneum. [wikipedia: http://en.wikipedia.org/wiki/Retroperitoneum]" []	581788	efo_slim,uberon_slim	\N	EFO	2	EFO	animal component	retroperitoneum
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0003693	"The retroperitoneum (or extraperitoneum) is the anatomical space in the abdominal cavity behind (retro) the peritoneum. [wikipedia: http://en.wikipedia.org/wiki/Retroperitoneum]" []	1165835	\N	\N	EFO	3	EFO	anatomy basic component	retroperitoneum
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0003693	"The retroperitoneum (or extraperitoneum) is the anatomical space in the abdominal cavity behind (retro) the peritoneum. [wikipedia: http://en.wikipedia.org/wiki/Retroperitoneum]" []	2049760	\N	\N	EFO	4	EFO	organism part	retroperitoneum
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0003693	"The retroperitoneum (or extraperitoneum) is the anatomical space in the abdominal cavity behind (retro) the peritoneum. [wikipedia: http://en.wikipedia.org/wiki/Retroperitoneum]" []	3199736	\N	\N	EFO	5	EFO	material entity	retroperitoneum
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0003693	"The retroperitoneum (or extraperitoneum) is the anatomical space in the abdominal cavity behind (retro) the peritoneum. [wikipedia: http://en.wikipedia.org/wiki/Retroperitoneum]" []	4404821	\N	\N	EFO	6	EFO	experimental factor	retroperitoneum
UBERON:0003697	\N	\N	"The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus)." []	UBERON:0003697	"The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus)." []	79971	\N	\N	EFO	0	EFO	abdominal wall	abdominal wall
EFO:0000787	UBERON:0003697	\N	"" []	UBERON:0003697	"The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus)." []	224871	\N	\N	EFO	1	EFO	animal component	abdominal wall
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0003697	"The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus)." []	581789	\N	\N	EFO	2	EFO	anatomy basic component	abdominal wall
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0003697	"The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus)." []	1165836	\N	\N	EFO	3	EFO	organism part	abdominal wall
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0003697	"The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus)." []	2049761	\N	\N	EFO	4	EFO	material entity	abdominal wall
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0003697	"The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus)." []	3199737	\N	\N	EFO	5	EFO	experimental factor	abdominal wall
UBERON:0003729	\N	\N	"A mucous membrane that lines the mouth. Usage notes: this is defined as any mucous membrane of the mouth - including palate, lips, uvula, etc. ncit split mouth/oral mucosa into lip and buccal. In future we may split into masticatory/keratinized (gingiva + hard palate) vs lining/non-keratinized (lips, cheeks, floor of mouth, soft palate). FMA distinguishes between mucosa of mouth and region of mouth (the latter including the buccal mucosa)" []	UBERON:0003729	"A mucous membrane that lines the mouth. Usage notes: this is defined as any mucous membrane of the mouth - including palate, lips, uvula, etc. ncit split mouth/oral mucosa into lip and buccal. In future we may split into masticatory/keratinized (gingiva + hard palate) vs lining/non-keratinized (lips, cheeks, floor of mouth, soft palate). FMA distinguishes between mucosa of mouth and region of mouth (the latter including the buccal mucosa)" []	79973	\N	\N	EFO	0	EFO	mouth mucosa	mouth mucosa
EFO:0000787	UBERON:0003729	\N	"" []	UBERON:0003729	"A mucous membrane that lines the mouth. Usage notes: this is defined as any mucous membrane of the mouth - including palate, lips, uvula, etc. ncit split mouth/oral mucosa into lip and buccal. In future we may split into masticatory/keratinized (gingiva + hard palate) vs lining/non-keratinized (lips, cheeks, floor of mouth, soft palate). FMA distinguishes between mucosa of mouth and region of mouth (the latter including the buccal mucosa)" []	224872	\N	\N	EFO	1	EFO	animal component	mouth mucosa
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0003729	"A mucous membrane that lines the mouth. Usage notes: this is defined as any mucous membrane of the mouth - including palate, lips, uvula, etc. ncit split mouth/oral mucosa into lip and buccal. In future we may split into masticatory/keratinized (gingiva + hard palate) vs lining/non-keratinized (lips, cheeks, floor of mouth, soft palate). FMA distinguishes between mucosa of mouth and region of mouth (the latter including the buccal mucosa)" []	581790	\N	\N	EFO	2	EFO	anatomy basic component	mouth mucosa
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0003729	"A mucous membrane that lines the mouth. Usage notes: this is defined as any mucous membrane of the mouth - including palate, lips, uvula, etc. ncit split mouth/oral mucosa into lip and buccal. In future we may split into masticatory/keratinized (gingiva + hard palate) vs lining/non-keratinized (lips, cheeks, floor of mouth, soft palate). FMA distinguishes between mucosa of mouth and region of mouth (the latter including the buccal mucosa)" []	1165837	\N	\N	EFO	3	EFO	organism part	mouth mucosa
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0003729	"A mucous membrane that lines the mouth. Usage notes: this is defined as any mucous membrane of the mouth - including palate, lips, uvula, etc. ncit split mouth/oral mucosa into lip and buccal. In future we may split into masticatory/keratinized (gingiva + hard palate) vs lining/non-keratinized (lips, cheeks, floor of mouth, soft palate). FMA distinguishes between mucosa of mouth and region of mouth (the latter including the buccal mucosa)" []	2049762	\N	\N	EFO	4	EFO	material entity	mouth mucosa
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0003729	"A mucous membrane that lines the mouth. Usage notes: this is defined as any mucous membrane of the mouth - including palate, lips, uvula, etc. ncit split mouth/oral mucosa into lip and buccal. In future we may split into masticatory/keratinized (gingiva + hard palate) vs lining/non-keratinized (lips, cheeks, floor of mouth, soft palate). FMA distinguishes between mucosa of mouth and region of mouth (the latter including the buccal mucosa)" []	3199738	\N	\N	EFO	5	EFO	experimental factor	mouth mucosa
UBERON:0003881	\N	\N	"Part of hippocampus proper bounded by CA2 and the subiculum, characterized by pyramidal neurons that receive projections from pyramidal neurons of CA3 via the Schaffer collaterals." []	UBERON:0003881	"Part of hippocampus proper bounded by CA2 and the subiculum, characterized by pyramidal neurons that receive projections from pyramidal neurons of CA3 via the Schaffer collaterals." []	79978	\N	\N	EFO	0	EFO	CA1 field of hippocampus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	CA1 field of hippocampus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000956	\N	\N	"The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 24 mm (0.080.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted]." [Wikipedia:Cerebral_cortex]	UBERON:0003881	"Part of hippocampus proper bounded by CA2 and the subiculum, characterized by pyramidal neurons that receive projections from pyramidal neurons of CA3 via the Schaffer collaterals." []	196198	\N	efo_slim,uberon_slim	EFO	0	EFO	cerebral cortex	CA1 field of hippocampus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0003882	\N	\N	"" []	UBERON:0003882	"" []	79979	\N	\N	EFO	0	EFO	hippocampus CA2	hippocampus CA2
MA:0000191	UBERON:0003882	\N	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum." []	UBERON:0003882	"" []	224873	\N	\N	EFO	1	EFO	hippocampus	hippocampus CA2
UBERON:0003883	\N	\N	"Part of hippocampus proper bounded by the hilus of the dentate gyrus and area CA2, characterized by large pyramidal cells and a dense projection from dentate gyrus granule cell mossy fibers." []	UBERON:0003883	"Part of hippocampus proper bounded by the hilus of the dentate gyrus and area CA2, characterized by large pyramidal cells and a dense projection from dentate gyrus granule cell mossy fibers." []	79980	\N	\N	EFO	0	EFO	CA3 field of hippocampus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	CA3 field of hippocampus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000956	\N	\N	"The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 24 mm (0.080.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted]." [Wikipedia:Cerebral_cortex]	UBERON:0003883	"Part of hippocampus proper bounded by the hilus of the dentate gyrus and area CA2, characterized by large pyramidal cells and a dense projection from dentate gyrus granule cell mossy fibers." []	196199	\N	efo_slim,uberon_slim	EFO	0	EFO	cerebral cortex	CA3 field of hippocampus {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0003884	\N	\N	"" []	UBERON:0003884	"" []	79981	\N	\N	EFO	0	EFO	hippocampus CA4	hippocampus CA4
MA:0000191	UBERON:0003884	\N	"A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum." []	UBERON:0003884	"" []	224874	\N	\N	EFO	1	EFO	hippocampus	hippocampus CA4
UBERON:0003903	\N	\N	"A lymphoid organ that opens into the cloaca of birds and functions in B-cell production." []	UBERON:0003903	"A lymphoid organ that opens into the cloaca of birds and functions in B-cell production." []	79985	\N	\N	EFO	0	EFO	bursa of Fabricius	bursa of Fabricius
UBERON:0002390	UBERON:0003903	\N	"Anatomical system that is involved in the production of hematopoietic cells. [ Haematopoiesis ] " []	UBERON:0003903	"A lymphoid organ that opens into the cloaca of birds and functions in B-cell production." []	224875	\N	\N	EFO	1	EFO	hematopoietic system	bursa of Fabricius
UBERON:0000467	UBERON:0002390	\N	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0003903	"A lymphoid organ that opens into the cloaca of birds and functions in B-cell production." []	581791	\N	\N	EFO	2	EFO	anatomical system	bursa of Fabricius
EFO:0000787	UBERON:0000467	\N	"" []	UBERON:0003903	"A lymphoid organ that opens into the cloaca of birds and functions in B-cell production." []	1165838	\N	\N	EFO	3	EFO	animal component	bursa of Fabricius
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0003903	"A lymphoid organ that opens into the cloaca of birds and functions in B-cell production." []	2049763	\N	\N	EFO	4	EFO	anatomy basic component	bursa of Fabricius
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0003903	"A lymphoid organ that opens into the cloaca of birds and functions in B-cell production." []	3199739	\N	\N	EFO	5	EFO	organism part	bursa of Fabricius
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0003903	"A lymphoid organ that opens into the cloaca of birds and functions in B-cell production." []	4404822	\N	\N	EFO	6	EFO	material entity	bursa of Fabricius
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0003903	"A lymphoid organ that opens into the cloaca of birds and functions in B-cell production." []	5420272	\N	\N	EFO	7	EFO	experimental factor	bursa of Fabricius
UBERON:0003917	\N	\N	"An insect gland dorsal to the insect gut, with a function analogous to that of the vertebrate liver. It is a storage organ for fats, glycogen and protein and is a major site of intermediary metabolism." []	UBERON:0003917	"An insect gland dorsal to the insect gut, with a function analogous to that of the vertebrate liver. It is a storage organ for fats, glycogen and protein and is a major site of intermediary metabolism." []	79986	\N	\N	EFO	0	EFO	arthropod fat body {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	arthropod fat body {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001013	\N	\N	"Connective tissue composed of adipocytes." [Wikipedia:Adipose_tissue]	UBERON:0003917	"An insect gland dorsal to the insect gut, with a function analogous to that of the vertebrate liver. It is a storage organ for fats, glycogen and protein and is a major site of intermediary metabolism." []	196203	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	adipose tissue	arthropod fat body {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0004064	\N	\N	"" []	UBERON:0004064	"" []	79994	\N	\N	EFO	0	EFO	basal plate	basal plate
EFO:0001903	UBERON:0004064	\N	"" []	UBERON:0004064	"" []	224876	\N	\N	EFO	1	EFO	nervous system developmental tissue	basal plate
EFO:0000795	EFO:0001903	\N	"Embryonic structure (body structure)" []	UBERON:0004064	"" []	581792	\N	\N	EFO	2	EFO	animal developmental tissue	basal plate
EFO:0000787	EFO:0000795	\N	"" []	UBERON:0004064	"" []	1165839	\N	\N	EFO	3	EFO	animal component	basal plate
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0004064	"" []	2049764	\N	\N	EFO	4	EFO	anatomy basic component	basal plate
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0004064	"" []	3199740	\N	\N	EFO	5	EFO	organism part	basal plate
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0004064	"" []	4404823	\N	\N	EFO	6	EFO	material entity	basal plate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0004064	"" []	5420273	\N	\N	EFO	7	EFO	experimental factor	basal plate
UBERON:0004067	\N	\N	"The lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it." []	UBERON:0004067	"The lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it." []	79995	\N	\N	EFO	0	EFO	lateral nasal prominence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	lateral nasal prominence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000033	\N	\N	"The head is the anterior-most division of the body [GO]." [GO:0060322, Wikipedia:Head]	UBERON:0004067	"The lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it." []	196211	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	head	lateral nasal prominence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0004068	\N	\N	"The central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it." []	UBERON:0004068	"The central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it." []	79996	\N	\N	EFO	0	EFO	medial nasal prominence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	medial nasal prominence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000033	\N	\N	"The head is the anterior-most division of the body [GO]." [GO:0060322, Wikipedia:Head]	UBERON:0004068	"The central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it." []	196212	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	head	medial nasal prominence {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0004124	\N	\N	"The layer of the myocardium composed of projections of contractile myocytes.   The trabecular layer is bounded internally by the endocardium.  Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences." []	UBERON:0004124	"The layer of the myocardium composed of projections of contractile myocytes.   The trabecular layer is bounded internally by the endocardium.  Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences." []	80000	\N	\N	EFO	0	EFO	trabecular layer	trabecular layer
EFO:0003331	UBERON:0004124	\N	"" []	UBERON:0004124	"The layer of the myocardium composed of projections of contractile myocytes.   The trabecular layer is bounded internally by the endocardium.  Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences." []	224877	\N	\N	EFO	1	EFO	zebrafish component	trabecular layer
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0004124	"The layer of the myocardium composed of projections of contractile myocytes.   The trabecular layer is bounded internally by the endocardium.  Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences." []	581793	\N	\N	EFO	2	EFO	animal component	trabecular layer
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0004124	"The layer of the myocardium composed of projections of contractile myocytes.   The trabecular layer is bounded internally by the endocardium.  Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences." []	1165840	\N	\N	EFO	3	EFO	anatomy basic component	trabecular layer
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0004124	"The layer of the myocardium composed of projections of contractile myocytes.   The trabecular layer is bounded internally by the endocardium.  Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences." []	2049765	\N	\N	EFO	4	EFO	organism part	trabecular layer
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0004124	"The layer of the myocardium composed of projections of contractile myocytes.   The trabecular layer is bounded internally by the endocardium.  Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences." []	3199741	\N	\N	EFO	5	EFO	material entity	trabecular layer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0004124	"The layer of the myocardium composed of projections of contractile myocytes.   The trabecular layer is bounded internally by the endocardium.  Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences." []	4404824	\N	\N	EFO	6	EFO	experimental factor	trabecular layer
UBERON:0004203	\N	\N	"The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex." []	UBERON:0004203	"The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex." []	80004	\N	\N	EFO	0	EFO	cortical collecting duct {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	cortical collecting duct {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001225	\N	\N	"" []	UBERON:0004203	"The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex." []	196219	\N	pheno_slim,uberon_slim	EFO	0	EFO	cortex of kidney	cortical collecting duct {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0004744	\N	\N	"The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate." []	UBERON:0004744	"The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate." []	80015	\N	\N	EFO	0	EFO	anguloarticular	anguloarticular
EFO:0003331	UBERON:0004744	\N	"" []	UBERON:0004744	"The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate." []	224878	\N	\N	EFO	1	EFO	zebrafish component	anguloarticular
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0004744	"The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate." []	581794	\N	\N	EFO	2	EFO	animal component	anguloarticular
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0004744	"The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate." []	1165841	\N	\N	EFO	3	EFO	anatomy basic component	anguloarticular
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0004744	"The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate." []	2049766	\N	\N	EFO	4	EFO	organism part	anguloarticular
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0004744	"The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate." []	3199742	\N	\N	EFO	5	EFO	material entity	anguloarticular
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0004744	"The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate." []	4404825	\N	\N	EFO	6	EFO	experimental factor	anguloarticular
UBERON:0004746	\N	\N	"Paired cartilage bone that contacts the pterosphenoid anteriorly, the sphenotic and the pterotic dorsally, and the epiotic and basioccipital posteriorly. The parasphenoid covers the ventral region of each prootic, the upper edge of which contributes to the hyomandibular facet. Bear foramina that accommodate branches of the trigeminal and facial nerves." []	UBERON:0004746	"Paired cartilage bone that contacts the pterosphenoid anteriorly, the sphenotic and the pterotic dorsally, and the epiotic and basioccipital posteriorly. The parasphenoid covers the ventral region of each prootic, the upper edge of which contributes to the hyomandibular facet. Bear foramina that accommodate branches of the trigeminal and facial nerves." []	80016	\N	\N	EFO	0	EFO	prootic	prootic
EFO:0003331	UBERON:0004746	\N	"" []	UBERON:0004746	"Paired cartilage bone that contacts the pterosphenoid anteriorly, the sphenotic and the pterotic dorsally, and the epiotic and basioccipital posteriorly. The parasphenoid covers the ventral region of each prootic, the upper edge of which contributes to the hyomandibular facet. Bear foramina that accommodate branches of the trigeminal and facial nerves." []	224879	\N	\N	EFO	1	EFO	zebrafish component	prootic
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0004746	"Paired cartilage bone that contacts the pterosphenoid anteriorly, the sphenotic and the pterotic dorsally, and the epiotic and basioccipital posteriorly. The parasphenoid covers the ventral region of each prootic, the upper edge of which contributes to the hyomandibular facet. Bear foramina that accommodate branches of the trigeminal and facial nerves." []	581795	\N	\N	EFO	2	EFO	animal component	prootic
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0004746	"Paired cartilage bone that contacts the pterosphenoid anteriorly, the sphenotic and the pterotic dorsally, and the epiotic and basioccipital posteriorly. The parasphenoid covers the ventral region of each prootic, the upper edge of which contributes to the hyomandibular facet. Bear foramina that accommodate branches of the trigeminal and facial nerves." []	1165842	\N	\N	EFO	3	EFO	anatomy basic component	prootic
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0004746	"Paired cartilage bone that contacts the pterosphenoid anteriorly, the sphenotic and the pterotic dorsally, and the epiotic and basioccipital posteriorly. The parasphenoid covers the ventral region of each prootic, the upper edge of which contributes to the hyomandibular facet. Bear foramina that accommodate branches of the trigeminal and facial nerves." []	2049767	\N	\N	EFO	4	EFO	organism part	prootic
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0004746	"Paired cartilage bone that contacts the pterosphenoid anteriorly, the sphenotic and the pterotic dorsally, and the epiotic and basioccipital posteriorly. The parasphenoid covers the ventral region of each prootic, the upper edge of which contributes to the hyomandibular facet. Bear foramina that accommodate branches of the trigeminal and facial nerves." []	3199743	\N	\N	EFO	5	EFO	material entity	prootic
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0004746	"Paired cartilage bone that contacts the pterosphenoid anteriorly, the sphenotic and the pterotic dorsally, and the epiotic and basioccipital posteriorly. The parasphenoid covers the ventral region of each prootic, the upper edge of which contributes to the hyomandibular facet. Bear foramina that accommodate branches of the trigeminal and facial nerves." []	4404826	\N	\N	EFO	6	EFO	experimental factor	prootic
UBERON:0005170	\N	\N	"" []	UBERON:0005170	"" []	80023	\N	\N	EFO	0	EFO	granulosa cell layer	granulosa cell layer
EFO:0003331	UBERON:0005170	\N	"" []	UBERON:0005170	"" []	224880	\N	\N	EFO	1	EFO	zebrafish component	granulosa cell layer
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0005170	"" []	581796	\N	\N	EFO	2	EFO	animal component	granulosa cell layer
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0005170	"" []	1165843	\N	\N	EFO	3	EFO	anatomy basic component	granulosa cell layer
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0005170	"" []	2049768	\N	\N	EFO	4	EFO	organism part	granulosa cell layer
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0005170	"" []	3199744	\N	\N	EFO	5	EFO	material entity	granulosa cell layer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0005170	"" []	4404827	\N	\N	EFO	6	EFO	experimental factor	granulosa cell layer
UBERON:0005281	\N	\N	"" []	UBERON:0005281	"" []	80026	\N	\N	EFO	0	EFO	ventricular system	ventricular system
EFO:0003331	UBERON:0005281	\N	"" []	UBERON:0005281	"" []	224881	\N	\N	EFO	1	EFO	zebrafish component	ventricular system
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0005281	"" []	581797	\N	\N	EFO	2	EFO	animal component	ventricular system
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0005281	"" []	1165844	\N	\N	EFO	3	EFO	anatomy basic component	ventricular system
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0005281	"" []	2049769	\N	\N	EFO	4	EFO	organism part	ventricular system
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0005281	"" []	3199745	\N	\N	EFO	5	EFO	material entity	ventricular system
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0005281	"" []	4404828	\N	\N	EFO	6	EFO	experimental factor	ventricular system
UBERON:0005363	\N	\N	"The large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)" []	UBERON:0005363	"The large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)" []	80030	\N	\N	EFO	0	EFO	inferior vagus X ganglion {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	inferior vagus X ganglion {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001714	\N	\N	"Ganglion of a cranial nerve[cjm]." [Wikipedia:Cranial_nerve_ganglion]	UBERON:0005363	"The large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)" []	196240	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	cranial ganglion	inferior vagus X ganglion {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0005396	\N	\N	"The two principal arteries supplying the structures of the head and neck. They ascend in the neck, one on each side, and at the level of the upper border of the thyroid cartilage, each divides into two branches, the external (CAROTID ARTERY, EXTERNAL) and internal (CAROTID ARTERY, INTERNAL) carotid arteries." []	UBERON:0005396	"The two principal arteries supplying the structures of the head and neck. They ascend in the neck, one on each side, and at the level of the upper border of the thyroid cartilage, each divides into two branches, the external (CAROTID ARTERY, EXTERNAL) and internal (CAROTID ARTERY, INTERNAL) carotid arteries." []	80033	\N	\N	EFO	0	EFO	carotid artery	carotid artery
UBERON:0001637	\N	\N	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0005396	"The two principal arteries supplying the structures of the head and neck. They ascend in the neck, one on each side, and at the level of the upper border of the thyroid cartilage, each divides into two branches, the external (CAROTID ARTERY, EXTERNAL) and internal (CAROTID ARTERY, INTERNAL) carotid arteries." []	196243	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	artery	carotid artery
UBERON:0006088	\N	\N	"" []	UBERON:0006088	"" []	80064	\N	\N	EFO	0	EFO	inferior parietal lobule	inferior parietal lobule
UBERON:0000955	\N	\N	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	UBERON:0006088	"" []	196265	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	EFO	0	EFO	brain	inferior parietal lobule
UBERON:0006222	\N	\N	"" []	UBERON:0006222	"" []	80065	\N	\N	EFO	0	EFO	presumptive diencephalon	presumptive diencephalon
EFO:0003332	UBERON:0006222	\N	"" []	UBERON:0006222	"" []	224882	\N	\N	EFO	1	EFO	zebrafish embryonic structure	presumptive diencephalon
EFO:0003331	EFO:0003332	\N	"" []	UBERON:0006222	"" []	581798	\N	\N	EFO	2	EFO	zebrafish component	presumptive diencephalon
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0006222	"" []	1165845	\N	\N	EFO	3	EFO	animal component	presumptive diencephalon
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0006222	"" []	2049770	\N	\N	EFO	4	EFO	anatomy basic component	presumptive diencephalon
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0006222	"" []	3199746	\N	\N	EFO	5	EFO	organism part	presumptive diencephalon
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0006222	"" []	4404829	\N	\N	EFO	6	EFO	material entity	presumptive diencephalon
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0006222	"" []	5420274	\N	\N	EFO	7	EFO	experimental factor	presumptive diencephalon
UBERON:0006238	\N	\N	"" []	UBERON:0006238	"" []	80066	\N	\N	EFO	0	EFO	presumptive brain	presumptive brain
EFO:0003332	UBERON:0006238	\N	"" []	UBERON:0006238	"" []	224883	\N	\N	EFO	1	EFO	zebrafish embryonic structure	presumptive brain
EFO:0003331	EFO:0003332	\N	"" []	UBERON:0006238	"" []	581799	\N	\N	EFO	2	EFO	zebrafish component	presumptive brain
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0006238	"" []	1165846	\N	\N	EFO	3	EFO	animal component	presumptive brain
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0006238	"" []	2049771	\N	\N	EFO	4	EFO	anatomy basic component	presumptive brain
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0006238	"" []	3199747	\N	\N	EFO	5	EFO	organism part	presumptive brain
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0006238	"" []	4404830	\N	\N	EFO	6	EFO	material entity	presumptive brain
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0006238	"" []	5420275	\N	\N	EFO	7	EFO	experimental factor	presumptive brain
UBERON:0006240	\N	\N	"" []	UBERON:0006240	"" []	80067	\N	\N	EFO	0	EFO	presumptive forebrain	presumptive forebrain
EFO:0003332	UBERON:0006240	\N	"" []	UBERON:0006240	"" []	224884	\N	\N	EFO	1	EFO	zebrafish embryonic structure	presumptive forebrain
EFO:0003331	EFO:0003332	\N	"" []	UBERON:0006240	"" []	581800	\N	\N	EFO	2	EFO	zebrafish component	presumptive forebrain
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0006240	"" []	1165847	\N	\N	EFO	3	EFO	animal component	presumptive forebrain
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0006240	"" []	2049772	\N	\N	EFO	4	EFO	anatomy basic component	presumptive forebrain
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0006240	"" []	3199748	\N	\N	EFO	5	EFO	organism part	presumptive forebrain
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0006240	"" []	4404831	\N	\N	EFO	6	EFO	material entity	presumptive forebrain
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0006240	"" []	5420276	\N	\N	EFO	7	EFO	experimental factor	presumptive forebrain
UBERON:0006314	\N	\N	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	UBERON:0006314	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	80069	\N	\N	EFO	0	EFO	bodily fluid	bodily fluid
EFO:0000787	UBERON:0006314	\N	"" []	UBERON:0006314	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	224885	\N	\N	EFO	1	EFO	animal component	bodily fluid
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0006314	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	581801	\N	\N	EFO	2	EFO	anatomy basic component	bodily fluid
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0006314	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	1165848	\N	\N	EFO	3	EFO	organism part	bodily fluid
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0006314	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	2049773	\N	\N	EFO	4	EFO	material entity	bodily fluid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0006314	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	3199749	\N	\N	EFO	5	EFO	experimental factor	bodily fluid
UBERON:0006483	\N	\N	"Brodmann area 46, or BA46, is part of the frontal cortex in the human brain. It is between BA10 and BA45. BA46 is known as middle frontal area 46. In the human it occupies approximately the middle third of the middle frontal gyrus and the most rostral portion of the inferior frontal gyrus. Brodmann area 46 roughly corresponds with the dorsolateral prefrontal cortex (DLPFC), although the borders of area 46 are based on cytoarchitecture rather than function. The DLPFC also encompasses part of granular frontal area 9, directly adjacent on the dorsal surface of the cortex. Cytoarchitecturally, BA46 is bounded dorsally by the granular frontal area 9, rostroventrally by the frontopolar area 10 and caudally by the triangular area 45 (Brodmann-1909). There is some discrepancy between the extent of BA8 (Brodmann-1905) and the same area as described by Walker (1940) [ http://en.wikipedia.org/wiki/Brodmann_area_46 ]." []	UBERON:0006483	"Brodmann area 46, or BA46, is part of the frontal cortex in the human brain. It is between BA10 and BA45. BA46 is known as middle frontal area 46. In the human it occupies approximately the middle third of the middle frontal gyrus and the most rostral portion of the inferior frontal gyrus. Brodmann area 46 roughly corresponds with the dorsolateral prefrontal cortex (DLPFC), although the borders of area 46 are based on cytoarchitecture rather than function. The DLPFC also encompasses part of granular frontal area 9, directly adjacent on the dorsal surface of the cortex. Cytoarchitecturally, BA46 is bounded dorsally by the granular frontal area 9, rostroventrally by the frontopolar area 10 and caudally by the triangular area 45 (Brodmann-1909). There is some discrepancy between the extent of BA8 (Brodmann-1905) and the same area as described by Walker (1940) [ http://en.wikipedia.org/wiki/Brodmann_area_46 ]." []	80071	\N	\N	EFO	0	EFO	Brodmann (1909) area 46 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Brodmann (1909) area 46 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000956	\N	\N	"The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 24 mm (0.080.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted]." [Wikipedia:Cerebral_cortex]	UBERON:0006483	"Brodmann area 46, or BA46, is part of the frontal cortex in the human brain. It is between BA10 and BA45. BA46 is known as middle frontal area 46. In the human it occupies approximately the middle third of the middle frontal gyrus and the most rostral portion of the inferior frontal gyrus. Brodmann area 46 roughly corresponds with the dorsolateral prefrontal cortex (DLPFC), although the borders of area 46 are based on cytoarchitecture rather than function. The DLPFC also encompasses part of granular frontal area 9, directly adjacent on the dorsal surface of the cortex. Cytoarchitecturally, BA46 is bounded dorsally by the granular frontal area 9, rostroventrally by the frontopolar area 10 and caudally by the triangular area 45 (Brodmann-1909). There is some discrepancy between the extent of BA8 (Brodmann-1905) and the same area as described by Walker (1940) [ http://en.wikipedia.org/wiki/Brodmann_area_46 ]." []	196268	\N	efo_slim,uberon_slim	EFO	0	EFO	cerebral cortex	Brodmann (1909) area 46 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0006558	\N	\N	"An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. [ 0000-0002-6601-2165 ] " []	UBERON:0006558	"An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. [ 0000-0002-6601-2165 ] " []	80073	\N	\N	EFO	0	EFO	lymphatic part of lymphoid system	lymphatic part of lymphoid system
UBERON:0002390	UBERON:0006558	\N	"Anatomical system that is involved in the production of hematopoietic cells. [ Haematopoiesis ] " []	UBERON:0006558	"An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. [ 0000-0002-6601-2165 ] " []	224886	\N	\N	EFO	1	EFO	hematopoietic system	lymphatic part of lymphoid system
UBERON:0000467	UBERON:0002390	\N	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0006558	"An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. [ 0000-0002-6601-2165 ] " []	581802	\N	\N	EFO	2	EFO	anatomical system	lymphatic part of lymphoid system
EFO:0000787	UBERON:0000467	\N	"" []	UBERON:0006558	"An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. [ 0000-0002-6601-2165 ] " []	1165849	\N	\N	EFO	3	EFO	animal component	lymphatic part of lymphoid system
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0006558	"An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. [ 0000-0002-6601-2165 ] " []	2049774	\N	\N	EFO	4	EFO	anatomy basic component	lymphatic part of lymphoid system
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0006558	"An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. [ 0000-0002-6601-2165 ] " []	3199750	\N	\N	EFO	5	EFO	organism part	lymphatic part of lymphoid system
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0006558	"An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. [ 0000-0002-6601-2165 ] " []	4404832	\N	\N	EFO	6	EFO	material entity	lymphatic part of lymphoid system
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0006558	"An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. [ 0000-0002-6601-2165 ] " []	5420277	\N	\N	EFO	7	EFO	experimental factor	lymphatic part of lymphoid system
UBERON:0006597	\N	\N	"The quadrate is the dorsal bone in the jaw joint with the anguloarticular of the lower jaw. Ossification of the quadrate, a cartilage bone, begins as a posteriorly projecting membranous spine between the symplectic cartilage and the preopercle (5.1 mm NL). The body of the quadrate ossifies first at the ball-and-socket articulation with the anguloarticular (6.5 mm). The adult quadrate is shaped roughly like an inverted triangle with a long, posteriorly projecting spine off its posteroventral edge. The presence of a posteroventral or posterior process of the quadrate is a synapomorphy of Teleostei." []	UBERON:0006597	"The quadrate is the dorsal bone in the jaw joint with the anguloarticular of the lower jaw. Ossification of the quadrate, a cartilage bone, begins as a posteriorly projecting membranous spine between the symplectic cartilage and the preopercle (5.1 mm NL). The body of the quadrate ossifies first at the ball-and-socket articulation with the anguloarticular (6.5 mm). The adult quadrate is shaped roughly like an inverted triangle with a long, posteriorly projecting spine off its posteroventral edge. The presence of a posteroventral or posterior process of the quadrate is a synapomorphy of Teleostei." []	80076	\N	\N	EFO	0	EFO	quadrate	quadrate
EFO:0003331	UBERON:0006597	\N	"" []	UBERON:0006597	"The quadrate is the dorsal bone in the jaw joint with the anguloarticular of the lower jaw. Ossification of the quadrate, a cartilage bone, begins as a posteriorly projecting membranous spine between the symplectic cartilage and the preopercle (5.1 mm NL). The body of the quadrate ossifies first at the ball-and-socket articulation with the anguloarticular (6.5 mm). The adult quadrate is shaped roughly like an inverted triangle with a long, posteriorly projecting spine off its posteroventral edge. The presence of a posteroventral or posterior process of the quadrate is a synapomorphy of Teleostei." []	224887	\N	\N	EFO	1	EFO	zebrafish component	quadrate
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0006597	"The quadrate is the dorsal bone in the jaw joint with the anguloarticular of the lower jaw. Ossification of the quadrate, a cartilage bone, begins as a posteriorly projecting membranous spine between the symplectic cartilage and the preopercle (5.1 mm NL). The body of the quadrate ossifies first at the ball-and-socket articulation with the anguloarticular (6.5 mm). The adult quadrate is shaped roughly like an inverted triangle with a long, posteriorly projecting spine off its posteroventral edge. The presence of a posteroventral or posterior process of the quadrate is a synapomorphy of Teleostei." []	581803	\N	\N	EFO	2	EFO	animal component	quadrate
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0006597	"The quadrate is the dorsal bone in the jaw joint with the anguloarticular of the lower jaw. Ossification of the quadrate, a cartilage bone, begins as a posteriorly projecting membranous spine between the symplectic cartilage and the preopercle (5.1 mm NL). The body of the quadrate ossifies first at the ball-and-socket articulation with the anguloarticular (6.5 mm). The adult quadrate is shaped roughly like an inverted triangle with a long, posteriorly projecting spine off its posteroventral edge. The presence of a posteroventral or posterior process of the quadrate is a synapomorphy of Teleostei." []	1165850	\N	\N	EFO	3	EFO	anatomy basic component	quadrate
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0006597	"The quadrate is the dorsal bone in the jaw joint with the anguloarticular of the lower jaw. Ossification of the quadrate, a cartilage bone, begins as a posteriorly projecting membranous spine between the symplectic cartilage and the preopercle (5.1 mm NL). The body of the quadrate ossifies first at the ball-and-socket articulation with the anguloarticular (6.5 mm). The adult quadrate is shaped roughly like an inverted triangle with a long, posteriorly projecting spine off its posteroventral edge. The presence of a posteroventral or posterior process of the quadrate is a synapomorphy of Teleostei." []	2049775	\N	\N	EFO	4	EFO	organism part	quadrate
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0006597	"The quadrate is the dorsal bone in the jaw joint with the anguloarticular of the lower jaw. Ossification of the quadrate, a cartilage bone, begins as a posteriorly projecting membranous spine between the symplectic cartilage and the preopercle (5.1 mm NL). The body of the quadrate ossifies first at the ball-and-socket articulation with the anguloarticular (6.5 mm). The adult quadrate is shaped roughly like an inverted triangle with a long, posteriorly projecting spine off its posteroventral edge. The presence of a posteroventral or posterior process of the quadrate is a synapomorphy of Teleostei." []	3199751	\N	\N	EFO	5	EFO	material entity	quadrate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0006597	"The quadrate is the dorsal bone in the jaw joint with the anguloarticular of the lower jaw. Ossification of the quadrate, a cartilage bone, begins as a posteriorly projecting membranous spine between the symplectic cartilage and the preopercle (5.1 mm NL). The body of the quadrate ossifies first at the ball-and-socket articulation with the anguloarticular (6.5 mm). The adult quadrate is shaped roughly like an inverted triangle with a long, posteriorly projecting spine off its posteroventral edge. The presence of a posteroventral or posterior process of the quadrate is a synapomorphy of Teleostei." []	4404833	\N	\N	EFO	6	EFO	experimental factor	quadrate
UBERON:0006618	\N	\N	"Ear-shaped appendage of either atrium of the heart. (Dorland, 28th ed)" []	UBERON:0006618	"Ear-shaped appendage of either atrium of the heart. (Dorland, 28th ed)" []	80081	\N	\N	EFO	0	EFO	atrial appendage	atrial appendage
EFO:0001955	UBERON:0006618	\N	"A heart component is an animal component that is part of some heart." []	UBERON:0006618	"Ear-shaped appendage of either atrium of the heart. (Dorland, 28th ed)" []	224888	\N	\N	EFO	1	EFO	heart component	atrial appendage
UBERON:0006761	\N	\N	"The edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm" []	UBERON:0006761	"The edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm" []	80083	\N	\N	EFO	0	EFO	corneo-scleral junction	corneo-scleral junction
UBERON:0000970	\N	\N	"An organ that detects light." [https://orcid.org/0000-0002-6601-2165]	UBERON:0006761	"The edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm" []	196277	\N	efo_slim,functional_classification,major_organ,organ_slim,uberon_slim	EFO	0	EFO	eye	corneo-scleral junction
UBERON:0006763	\N	\N	"Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue." []	UBERON:0006763	"Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue." []	80084	\N	\N	EFO	0	EFO	epithelium of conjunctiva {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	epithelium of conjunctiva {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000483	UBERON:0006763	\N	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	UBERON:0006763	"Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue." []	224889	\N	\N	EFO	1	EFO	epithelium	epithelium of conjunctiva {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000787	UBERON:0000483	\N	"" []	UBERON:0006763	"Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue." []	581804	\N	\N	EFO	2	EFO	animal component	epithelium of conjunctiva {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0006763	"Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue." []	1165851	\N	\N	EFO	3	EFO	anatomy basic component	epithelium of conjunctiva {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0006763	"Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue." []	2049776	\N	\N	EFO	4	EFO	organism part	epithelium of conjunctiva {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0006763	"Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue." []	3199752	\N	\N	EFO	5	EFO	material entity	epithelium of conjunctiva {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0006763	"Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue." []	4404834	\N	\N	EFO	6	EFO	experimental factor	epithelium of conjunctiva {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0006862	\N	\N	"A diaphysis that is part of a femur. Synonyms: femoral shaft, femoral diaphysis, shaft of femur, body of femur, corpus femoris." []	UBERON:0006862	"A diaphysis that is part of a femur. Synonyms: femoral shaft, femoral diaphysis, shaft of femur, body of femur, corpus femoris." []	80086	\N	\N	EFO	0	EFO	diaphysis of femur {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	diaphysis of femur {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000981	\N	\N	"Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]." [VSAO:0000186, Wikipedia:Femur]	UBERON:0006862	"A diaphysis that is part of a femur. Synonyms: femoral shaft, femoral diaphysis, shaft of femur, body of femur, corpus femoris." []	196279	\N	efo_slim,uberon_slim	EFO	0	EFO	femur	diaphysis of femur {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0006865	\N	\N	"A metaphysis that is part of a femur." []	UBERON:0006865	"A metaphysis that is part of a femur." []	80087	\N	\N	EFO	0	EFO	metaphysis of femur {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	metaphysis of femur {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000981	\N	\N	"Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]." [VSAO:0000186, Wikipedia:Femur]	UBERON:0006865	"A metaphysis that is part of a femur." []	196280	\N	efo_slim,uberon_slim	EFO	0	EFO	femur	metaphysis of femur {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0006908	\N	\N	"The fast and slow skeletal muscles are different in terms of twitching speed (Fitts 1994), and they are believed to be derived from distinct myogenic precursors (Stockdale 1992) The paler-colored muscle tissue of some mammals, composed of fast twitch muscle fibers." []	UBERON:0006908	"The fast and slow skeletal muscles are different in terms of twitching speed (Fitts 1994), and they are believed to be derived from distinct myogenic precursors (Stockdale 1992) The paler-colored muscle tissue of some mammals, composed of fast twitch muscle fibers." []	80089	\N	\N	EFO	0	EFO	fast muscle tissue	fast muscle tissue
UBERON:0014892	UBERON:0006908	\N	"A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles)." []	UBERON:0006908	"The fast and slow skeletal muscles are different in terms of twitching speed (Fitts 1994), and they are believed to be derived from distinct myogenic precursors (Stockdale 1992) The paler-colored muscle tissue of some mammals, composed of fast twitch muscle fibers." []	224890	\N	\N	EFO	1	EFO	skeletal muscle organ	fast muscle tissue
UBERON:0007134	\N	\N	"Ganglion which is located in the trunk." []	UBERON:0007134	"Ganglion which is located in the trunk." []	80099	\N	\N	EFO	0	EFO	body ganglion	body ganglion
UBERON:0000045	\N	\N	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	UBERON:0007134	"Ganglion which is located in the trunk." []	196290	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	ganglion	body ganglion
UBERON:0007220	\N	\N	"An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching." []	UBERON:0007220	"An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching." []	80102	\N	\N	EFO	0	EFO	late embryonic stage	late embryonic stage
EFO:0000399	UBERON:0007220	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	UBERON:0007220	"An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching." []	224891	\N	\N	EFO	1	EFO	developmental stage	late embryonic stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	UBERON:0007220	"An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching." []	581805	\N	\N	EFO	2	EFO	process	late embryonic stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0007220	"An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching." []	1165852	\N	\N	EFO	3	EFO	experimental factor	late embryonic stage
UBERON:0007383	\N	\N	"Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm." []	UBERON:0007383	"Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm." []	80118	\N	\N	EFO	0	EFO	enveloping layer	enveloping layer
EFO:0003332	UBERON:0007383	\N	"" []	UBERON:0007383	"Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm." []	224892	\N	\N	EFO	1	EFO	zebrafish embryonic structure	enveloping layer
EFO:0003331	EFO:0003332	\N	"" []	UBERON:0007383	"Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm." []	581806	\N	\N	EFO	2	EFO	zebrafish component	enveloping layer
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0007383	"Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm." []	1165853	\N	\N	EFO	3	EFO	animal component	enveloping layer
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0007383	"Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm." []	2049777	\N	\N	EFO	4	EFO	anatomy basic component	enveloping layer
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0007383	"Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm." []	3199753	\N	\N	EFO	5	EFO	organism part	enveloping layer
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0007383	"Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm." []	4404835	\N	\N	EFO	6	EFO	material entity	enveloping layer
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0007383	"Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm." []	5420278	\N	\N	EFO	7	EFO	experimental factor	enveloping layer
UBERON:0007650	\N	\N	"The junction between the esophagus and the stomach epithelium" []	UBERON:0007650	"The junction between the esophagus and the stomach epithelium" []	80120	\N	\N	EFO	0	EFO	esophagogastric junction {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	esophagogastric junction {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0000945	\N	\N	"An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium." [https://orcid.org/0000-0002-6601-2165, ISBN10:0073040584, Wikipedia:Stomach]	UBERON:0007650	"The junction between the esophagus and the stomach epithelium" []	196307	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	EFO	0	EFO	stomach	esophagogastric junction {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0008337	\N	\N	"The lower region of the anterior abdominal wall located laterally to the pubic region." []	UBERON:0008337	"The lower region of the anterior abdominal wall located laterally to the pubic region." []	80125	\N	\N	EFO	0	EFO	inguinal region	inguinal region
EFO:0000808	UBERON:0008337	\N	"Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum." []	UBERON:0008337	"The lower region of the anterior abdominal wall located laterally to the pubic region." []	224893	\N	\N	EFO	1	EFO	animal body part	inguinal region
EFO:0000787	EFO:0000808	\N	"" []	UBERON:0008337	"The lower region of the anterior abdominal wall located laterally to the pubic region." []	581807	\N	\N	EFO	2	EFO	animal component	inguinal region
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0008337	"The lower region of the anterior abdominal wall located laterally to the pubic region." []	1165854	\N	\N	EFO	3	EFO	anatomy basic component	inguinal region
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0008337	"The lower region of the anterior abdominal wall located laterally to the pubic region." []	2049778	\N	\N	EFO	4	EFO	organism part	inguinal region
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0008337	"The lower region of the anterior abdominal wall located laterally to the pubic region." []	3199754	\N	\N	EFO	5	EFO	material entity	inguinal region
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0008337	"The lower region of the anterior abdominal wall located laterally to the pubic region." []	4404836	\N	\N	EFO	6	EFO	experimental factor	inguinal region
UBERON:0008897	\N	\N	"Surface structure involved in locomotion." []	UBERON:0008897	"Surface structure involved in locomotion." []	80127	\N	\N	EFO	0	EFO	fin	fin
UBERON:0000026	\N	\N	"Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS]	UBERON:0008897	"Surface structure involved in locomotion." []	196312	\N	efo_slim,uberon_slim	EFO	0	EFO	appendage	fin
UBERON:0009853	\N	\N	"The Corpus uteri, or body of uterus, is the part of the uterus above the isthmus, comprising about two thirds of the non-pregnant organ." []	UBERON:0009853	"The Corpus uteri, or body of uterus, is the part of the uterus above the isthmus, comprising about two thirds of the non-pregnant organ." []	80136	\N	\N	EFO	0	EFO	corpus uteri	corpus uteri
UBERON:0000955	\N	\N	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	UBERON:0009853	"The Corpus uteri, or body of uterus, is the part of the uterus above the isthmus, comprising about two thirds of the non-pregnant organ." []	196320	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	EFO	0	EFO	brain	corpus uteri
UBERON:0010147	\N	\N	"Any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and vesicular glands of the male." []	UBERON:0010147	"Any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and vesicular glands of the male." []	80141	\N	\N	EFO	0	EFO	male accessory sex gland {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	male accessory sex gland {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0002530	\N	\N	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0010147	"Any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and vesicular glands of the male." []	196325	\N	efo_slim,uberon_slim	EFO	0	EFO	gland	male accessory sex gland {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0010996	\N	\N	"A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints." []	UBERON:0010996	"A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints." []	80146	\N	\N	EFO	0	EFO	articular cartilage of joint {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	articular cartilage of joint {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001434	\N	\N	"Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, VSAO:0000027]	UBERON:0010996	"A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints." []	196330	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	skeletal system	articular cartilage of joint {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0011153	\N	\N	"" []	UBERON:0011153	"" []	80151	\N	\N	EFO	0	EFO	ventral hyoid arch	ventral hyoid arch
EFO:0003331	UBERON:0011153	\N	"" []	UBERON:0011153	"" []	224894	\N	\N	EFO	1	EFO	zebrafish component	ventral hyoid arch
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0011153	"" []	581808	\N	\N	EFO	2	EFO	animal component	ventral hyoid arch
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0011153	"" []	1165855	\N	\N	EFO	3	EFO	anatomy basic component	ventral hyoid arch
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0011153	"" []	2049779	\N	\N	EFO	4	EFO	organism part	ventral hyoid arch
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0011153	"" []	3199755	\N	\N	EFO	5	EFO	material entity	ventral hyoid arch
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0011153	"" []	4404837	\N	\N	EFO	6	EFO	experimental factor	ventral hyoid arch
UBERON:0011579	\N	\N	"The venom gland of snakes is in actual fact a modified salivary gland and is linked to the groove in the fangs by a duct;nA bee has a poison gland in her abdomen." []	UBERON:0011579	"The venom gland of snakes is in actual fact a modified salivary gland and is linked to the groove in the fangs by a duct;nA bee has a poison gland in her abdomen." []	80153	\N	\N	EFO	0	EFO	venom gland	venom gland
UBERON:0002530	\N	\N	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0011579	"The venom gland of snakes is in actual fact a modified salivary gland and is linked to the groove in the fangs by a duct;nA bee has a poison gland in her abdomen." []	196336	\N	efo_slim,uberon_slim	EFO	0	EFO	gland	venom gland
UBERON:0011634	\N	\N	"The ectopterygoid is dermal bone located at the anterior part of the palatoquadrate.  It is first visible as a very thin ossification along the anteroventral border of the palatoquadrate cartilage (6.4 mm). In adults it is a long sliver of bone that is narrow anteriorly where it meets the entopterygoid in a synostosis. It is slightly wider at its posterior synostosis with the quadrate." []	UBERON:0011634	"The ectopterygoid is dermal bone located at the anterior part of the palatoquadrate.  It is first visible as a very thin ossification along the anteroventral border of the palatoquadrate cartilage (6.4 mm). In adults it is a long sliver of bone that is narrow anteriorly where it meets the entopterygoid in a synostosis. It is slightly wider at its posterior synostosis with the quadrate." []	80155	\N	\N	EFO	0	EFO	ectopterygoid	ectopterygoid
EFO:0003331	UBERON:0011634	\N	"" []	UBERON:0011634	"The ectopterygoid is dermal bone located at the anterior part of the palatoquadrate.  It is first visible as a very thin ossification along the anteroventral border of the palatoquadrate cartilage (6.4 mm). In adults it is a long sliver of bone that is narrow anteriorly where it meets the entopterygoid in a synostosis. It is slightly wider at its posterior synostosis with the quadrate." []	224895	\N	\N	EFO	1	EFO	zebrafish component	ectopterygoid
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0011634	"The ectopterygoid is dermal bone located at the anterior part of the palatoquadrate.  It is first visible as a very thin ossification along the anteroventral border of the palatoquadrate cartilage (6.4 mm). In adults it is a long sliver of bone that is narrow anteriorly where it meets the entopterygoid in a synostosis. It is slightly wider at its posterior synostosis with the quadrate." []	581809	\N	\N	EFO	2	EFO	animal component	ectopterygoid
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0011634	"The ectopterygoid is dermal bone located at the anterior part of the palatoquadrate.  It is first visible as a very thin ossification along the anteroventral border of the palatoquadrate cartilage (6.4 mm). In adults it is a long sliver of bone that is narrow anteriorly where it meets the entopterygoid in a synostosis. It is slightly wider at its posterior synostosis with the quadrate." []	1165856	\N	\N	EFO	3	EFO	anatomy basic component	ectopterygoid
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0011634	"The ectopterygoid is dermal bone located at the anterior part of the palatoquadrate.  It is first visible as a very thin ossification along the anteroventral border of the palatoquadrate cartilage (6.4 mm). In adults it is a long sliver of bone that is narrow anteriorly where it meets the entopterygoid in a synostosis. It is slightly wider at its posterior synostosis with the quadrate." []	2049780	\N	\N	EFO	4	EFO	organism part	ectopterygoid
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0011634	"The ectopterygoid is dermal bone located at the anterior part of the palatoquadrate.  It is first visible as a very thin ossification along the anteroventral border of the palatoquadrate cartilage (6.4 mm). In adults it is a long sliver of bone that is narrow anteriorly where it meets the entopterygoid in a synostosis. It is slightly wider at its posterior synostosis with the quadrate." []	3199756	\N	\N	EFO	5	EFO	material entity	ectopterygoid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0011634	"The ectopterygoid is dermal bone located at the anterior part of the palatoquadrate.  It is first visible as a very thin ossification along the anteroventral border of the palatoquadrate cartilage (6.4 mm). In adults it is a long sliver of bone that is narrow anteriorly where it meets the entopterygoid in a synostosis. It is slightly wider at its posterior synostosis with the quadrate." []	4404838	\N	\N	EFO	6	EFO	experimental factor	ectopterygoid
UBERON:0011648	\N	\N	"" []	UBERON:0011648	"" []	80156	\N	\N	EFO	0	EFO	mandibular muscle	mandibular muscle
EFO:0003331	UBERON:0011648	\N	"" []	UBERON:0011648	"" []	224896	\N	\N	EFO	1	EFO	zebrafish component	mandibular muscle
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0011648	"" []	581810	\N	\N	EFO	2	EFO	animal component	mandibular muscle
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0011648	"" []	1165857	\N	\N	EFO	3	EFO	anatomy basic component	mandibular muscle
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0011648	"" []	2049781	\N	\N	EFO	4	EFO	organism part	mandibular muscle
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0011648	"" []	3199757	\N	\N	EFO	5	EFO	material entity	mandibular muscle
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0011648	"" []	4404839	\N	\N	EFO	6	EFO	experimental factor	mandibular muscle
UBERON:0013203	\N	\N	"The hypogastrium (or hypogastric region, or pubic region) is an area of the human abdomen located below the navel. [ Hypogastrium ] " []	UBERON:0013203	"The hypogastrium (or hypogastric region, or pubic region) is an area of the human abdomen located below the navel. [ Hypogastrium ] " []	80164	\N	\N	EFO	0	EFO	hypogastrium	hypogastrium
UBERON:0000916	\N	\N	"In vertebrates such as mammals the abdomen (belly) constitutes the part of the body between the thorax (chest) and pelvis. The region enclosed by the abdomen is termed the abdominal cavity." [Wikipedia:Abdomen]	UBERON:0013203	"The hypogastrium (or hypogastric region, or pubic region) is an area of the human abdomen located below the navel. [ Hypogastrium ] " []	196340	\N	efo_slim,uberon_slim	EFO	0	EFO	abdomen	hypogastrium
UBERON:0013691	\N	\N	"" []	UBERON:0013691	"" []	80165	\N	\N	EFO	0	EFO	buttock	buttock
EFO:0000808	UBERON:0013691	\N	"Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum." []	UBERON:0013691	"" []	224897	\N	\N	EFO	1	EFO	animal body part	buttock
EFO:0000787	EFO:0000808	\N	"" []	UBERON:0013691	"" []	581811	\N	\N	EFO	2	EFO	animal component	buttock
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0013691	"" []	1165858	\N	\N	EFO	3	EFO	anatomy basic component	buttock
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0013691	"" []	2049782	\N	\N	EFO	4	EFO	organism part	buttock
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0013691	"" []	3199758	\N	\N	EFO	5	EFO	material entity	buttock
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0013691	"" []	4404840	\N	\N	EFO	6	EFO	experimental factor	buttock
UBERON:0014371	\N	\N	"" []	UBERON:0014371	"" []	80167	\N	\N	EFO	0	EFO	presumptive telencephalon	presumptive telencephalon
EFO:0003332	UBERON:0014371	\N	"" []	UBERON:0014371	"" []	224898	\N	\N	EFO	1	EFO	zebrafish embryonic structure	presumptive telencephalon
EFO:0003331	EFO:0003332	\N	"" []	UBERON:0014371	"" []	581812	\N	\N	EFO	2	EFO	zebrafish component	presumptive telencephalon
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0014371	"" []	1165859	\N	\N	EFO	3	EFO	animal component	presumptive telencephalon
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0014371	"" []	2049783	\N	\N	EFO	4	EFO	anatomy basic component	presumptive telencephalon
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0014371	"" []	3199759	\N	\N	EFO	5	EFO	organism part	presumptive telencephalon
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0014371	"" []	4404841	\N	\N	EFO	6	EFO	material entity	presumptive telencephalon
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0014371	"" []	5420279	\N	\N	EFO	7	EFO	experimental factor	presumptive telencephalon
UBERON:0014374	\N	\N	"Embryoid bodies (EBs) are three-dimensional aggregates of pluripotent stem cells." []	UBERON:0014374	"Embryoid bodies (EBs) are three-dimensional aggregates of pluripotent stem cells." []	80168	\N	\N	EFO	0	EFO	embryoid body {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	embryoid body {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0014374	"Embryoid bodies (EBs) are three-dimensional aggregates of pluripotent stem cells." []	196342	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryoid body {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0014892	\N	\N	"A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles)." []	UBERON:0014892	"A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles)." []	80170	\N	\N	EFO	0	EFO	skeletal muscle organ	skeletal muscle organ
UBERON:0001015	\N	\N	"A body tissue consisting of long cells that contract when stimulated and produce motion." []	UBERON:0014892	"A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles)." []	196343	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	musculature	skeletal muscle organ
UBERON:0014903	\N	\N	"Is a portion of tissue that will develop into vasculature." []	UBERON:0014903	"Is a portion of tissue that will develop into vasculature." []	80171	\N	\N	EFO	0	EFO	primordial vasculature	primordial vasculature
EFO:0003331	UBERON:0014903	\N	"" []	UBERON:0014903	"Is a portion of tissue that will develop into vasculature." []	224899	\N	\N	EFO	1	EFO	zebrafish component	primordial vasculature
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0014903	"Is a portion of tissue that will develop into vasculature." []	581813	\N	\N	EFO	2	EFO	animal component	primordial vasculature
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0014903	"Is a portion of tissue that will develop into vasculature." []	1165860	\N	\N	EFO	3	EFO	anatomy basic component	primordial vasculature
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0014903	"Is a portion of tissue that will develop into vasculature." []	2049784	\N	\N	EFO	4	EFO	organism part	primordial vasculature
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0014903	"Is a portion of tissue that will develop into vasculature." []	3199760	\N	\N	EFO	5	EFO	material entity	primordial vasculature
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0014903	"Is a portion of tissue that will develop into vasculature." []	4404842	\N	\N	EFO	6	EFO	experimental factor	primordial vasculature
UBERON:0014907	\N	\N	"" []	UBERON:0014907	"" []	80172	\N	\N	EFO	0	EFO	intersegmental vessel	intersegmental vessel
EFO:0003331	UBERON:0014907	\N	"" []	UBERON:0014907	"" []	224900	\N	\N	EFO	1	EFO	zebrafish component	intersegmental vessel
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0014907	"" []	581814	\N	\N	EFO	2	EFO	animal component	intersegmental vessel
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0014907	"" []	1165861	\N	\N	EFO	3	EFO	anatomy basic component	intersegmental vessel
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0014907	"" []	2049785	\N	\N	EFO	4	EFO	organism part	intersegmental vessel
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0014907	"" []	3199761	\N	\N	EFO	5	EFO	material entity	intersegmental vessel
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0014907	"" []	4404843	\N	\N	EFO	6	EFO	experimental factor	intersegmental vessel
UBERON:0015238	\N	\N	"" []	UBERON:0015238	"" []	80173	\N	\N	EFO	0	EFO	pineal complex	pineal complex
EFO:0003331	UBERON:0015238	\N	"" []	UBERON:0015238	"" []	224901	\N	\N	EFO	1	EFO	zebrafish component	pineal complex
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0015238	"" []	581815	\N	\N	EFO	2	EFO	animal component	pineal complex
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0015238	"" []	1165862	\N	\N	EFO	3	EFO	anatomy basic component	pineal complex
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0015238	"" []	2049786	\N	\N	EFO	4	EFO	organism part	pineal complex
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0015238	"" []	3199762	\N	\N	EFO	5	EFO	material entity	pineal complex
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0015238	"" []	4404844	\N	\N	EFO	6	EFO	experimental factor	pineal complex
UBERON:0016540	\N	\N	"Gray matter of neocortex located in the occipital lobe in organisms that have distinct lobes, located in the occipital pole and continuous with the gray matter of the parietal cortex and temporal cortex" []	UBERON:0016540	"Gray matter of neocortex located in the occipital lobe in organisms that have distinct lobes, located in the occipital pole and continuous with the gray matter of the parietal cortex and temporal cortex" []	80175	\N	\N	EFO	0	EFO	occipital cortex	occipital cortex
EFO:0000787	UBERON:0016540	\N	"" []	UBERON:0016540	"Gray matter of neocortex located in the occipital lobe in organisms that have distinct lobes, located in the occipital pole and continuous with the gray matter of the parietal cortex and temporal cortex" []	224902	\N	\N	EFO	1	EFO	animal component	occipital cortex
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0016540	"Gray matter of neocortex located in the occipital lobe in organisms that have distinct lobes, located in the occipital pole and continuous with the gray matter of the parietal cortex and temporal cortex" []	581816	\N	\N	EFO	2	EFO	anatomy basic component	occipital cortex
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0016540	"Gray matter of neocortex located in the occipital lobe in organisms that have distinct lobes, located in the occipital pole and continuous with the gray matter of the parietal cortex and temporal cortex" []	1165863	\N	\N	EFO	3	EFO	organism part	occipital cortex
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0016540	"Gray matter of neocortex located in the occipital lobe in organisms that have distinct lobes, located in the occipital pole and continuous with the gray matter of the parietal cortex and temporal cortex" []	2049787	\N	\N	EFO	4	EFO	material entity	occipital cortex
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0016540	"Gray matter of neocortex located in the occipital lobe in organisms that have distinct lobes, located in the occipital pole and continuous with the gray matter of the parietal cortex and temporal cortex" []	3199763	\N	\N	EFO	5	EFO	experimental factor	occipital cortex
UBERON:0016552	\N	\N	"" []	UBERON:0016552	"" []	80176	\N	\N	EFO	0	EFO	phlegm	phlegm
EFO:0000787	UBERON:0016552	\N	"" []	UBERON:0016552	"" []	224903	\N	\N	EFO	1	EFO	animal component	phlegm
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0016552	"" []	581817	\N	\N	EFO	2	EFO	anatomy basic component	phlegm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0016552	"" []	1165864	\N	\N	EFO	3	EFO	organism part	phlegm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0016552	"" []	2049788	\N	\N	EFO	4	EFO	material entity	phlegm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0016552	"" []	3199764	\N	\N	EFO	5	EFO	experimental factor	phlegm
UBERON:0018549	\N	\N	"Region where blood progenitor markers are expressed.   Probable site of definitive hematopoiesis between 36hpf and 4dpf." []	UBERON:0018549	"Region where blood progenitor markers are expressed.   Probable site of definitive hematopoiesis between 36hpf and 4dpf." []	80177	\N	\N	EFO	0	EFO	ventral wall of dorsal aorta	ventral wall of dorsal aorta
EFO:0003331	UBERON:0018549	\N	"" []	UBERON:0018549	"Region where blood progenitor markers are expressed.   Probable site of definitive hematopoiesis between 36hpf and 4dpf." []	224904	\N	\N	EFO	1	EFO	zebrafish component	ventral wall of dorsal aorta
EFO:0000787	EFO:0003331	\N	"" []	UBERON:0018549	"Region where blood progenitor markers are expressed.   Probable site of definitive hematopoiesis between 36hpf and 4dpf." []	581818	\N	\N	EFO	2	EFO	animal component	ventral wall of dorsal aorta
EFO:0000786	EFO:0000787	\N	"" []	UBERON:0018549	"Region where blood progenitor markers are expressed.   Probable site of definitive hematopoiesis between 36hpf and 4dpf." []	1165865	\N	\N	EFO	3	EFO	anatomy basic component	ventral wall of dorsal aorta
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:0018549	"Region where blood progenitor markers are expressed.   Probable site of definitive hematopoiesis between 36hpf and 4dpf." []	2049789	\N	\N	EFO	4	EFO	organism part	ventral wall of dorsal aorta
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:0018549	"Region where blood progenitor markers are expressed.   Probable site of definitive hematopoiesis between 36hpf and 4dpf." []	3199765	\N	\N	EFO	5	EFO	material entity	ventral wall of dorsal aorta
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0018549	"Region where blood progenitor markers are expressed.   Probable site of definitive hematopoiesis between 36hpf and 4dpf." []	4404845	\N	\N	EFO	6	EFO	experimental factor	ventral wall of dorsal aorta
UBERON:0019189	\N	\N	"" []	UBERON:0019189	"" []	80178	\N	\N	EFO	0	EFO	carotid artery endothelium	carotid artery endothelium
UBERON:0001986	\N	\N	"A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]" [FMA:63916, MESH:A10.272.491]	UBERON:0019189	"" []	196345	\N	efo_slim,uberon_slim	EFO	0	EFO	endothelium	carotid artery endothelium
UBERON:0022353	\N	\N	"Component of the cingulate cortex. The rostral and caudal extent were the caudal anterior and the isthmus divisions of the cingulate cortex respectively. The medial and lateral boundaries were the corpus callosum and as the superior frontal gyrus and/or paracentral lobule respectively (Christine Fennema-Notestine)." []	UBERON:0022353	"Component of the cingulate cortex. The rostral and caudal extent were the caudal anterior and the isthmus divisions of the cingulate cortex respectively. The medial and lateral boundaries were the corpus callosum and as the superior frontal gyrus and/or paracentral lobule respectively (Christine Fennema-Notestine)." []	80179	\N	\N	EFO	0	EFO	posterior cingulate cortex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	posterior cingulate cortex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0003027	\N	\N	"The cingulate cortex is a part of the brain situated in the medial aspect of the cortex. It is extended from the corpus callosum below to the cingulate sulcus above, at least anteriorly. [WP,unvetted]." [Wikipedia:Cingulate_cortex]	UBERON:0022353	"Component of the cingulate cortex. The rostral and caudal extent were the caudal anterior and the isthmus divisions of the cingulate cortex respectively. The medial and lateral boundaries were the corpus callosum and as the superior frontal gyrus and/or paracentral lobule respectively (Christine Fennema-Notestine)." []	196346	\N	efo_slim,uberon_slim	EFO	0	EFO	cingulate cortex	posterior cingulate cortex {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0024151	\N	\N	"Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle." []	UBERON:0024151	"Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle." []	80180	\N	\N	EFO	0	EFO	tegmentum	tegmentum
UBERON:0000955	\N	\N	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	UBERON:0024151	"Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle." []	196347	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	EFO	0	EFO	brain	tegmentum
UBERON:0034919	\N	\N	"The stage of being no more dependent of the nest and/or from caregivers for subsistence while having not reach sexual maturity. [ https://github.com/obophenotype/uberon/issues/645 Bgee:AN ]" []	UBERON:0034919	"The stage of being no more dependent of the nest and/or from caregivers for subsistence while having not reach sexual maturity. [ https://github.com/obophenotype/uberon/issues/645 Bgee:AN ]" []	80181	\N	\N	EFO	0	EFO	juvenile stage	juvenile stage
EFO:0000399	UBERON:0034919	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	UBERON:0034919	"The stage of being no more dependent of the nest and/or from caregivers for subsistence while having not reach sexual maturity. [ https://github.com/obophenotype/uberon/issues/645 Bgee:AN ]" []	224905	\N	\N	EFO	1	EFO	developmental stage	juvenile stage
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	UBERON:0034919	"The stage of being no more dependent of the nest and/or from caregivers for subsistence while having not reach sexual maturity. [ https://github.com/obophenotype/uberon/issues/645 Bgee:AN ]" []	581819	\N	\N	EFO	2	EFO	process	juvenile stage
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:0034919	"The stage of being no more dependent of the nest and/or from caregivers for subsistence while having not reach sexual maturity. [ https://github.com/obophenotype/uberon/issues/645 Bgee:AN ]" []	1165866	\N	\N	EFO	3	EFO	experimental factor	juvenile stage
UBERON:0035652	\N	\N	"Any nerve that innervates the fibularis. Includes the common fibular nerve, and its branches." []	UBERON:0035652	"Any nerve that innervates the fibularis. Includes the common fibular nerve, and its branches." []	80182	\N	\N	EFO	0	EFO	fibular nerve {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fibular nerve {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0001021	UBERON:0035652	\N	"An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures." []	UBERON:0035652	"Any nerve that innervates the fibularis. Includes the common fibular nerve, and its branches." []	224906	\N	\N	EFO	1	EFO	nerve {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	fibular nerve {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0035814	\N	\N	"Pericardial fat is an adipose tissue." []	UBERON:0035814	"Pericardial fat is an adipose tissue." []	80183	\N	\N	EFO	0	EFO	pericardial fat	pericardial fat
UBERON:0001013	\N	\N	"Connective tissue composed of adipocytes." [Wikipedia:Adipose_tissue]	UBERON:0035814	"Pericardial fat is an adipose tissue." []	196348	\N	efo_slim,uberon_slim,vertebrate_core	EFO	0	EFO	adipose tissue	pericardial fat
UBERON:2000033	\N	\N	"" []	UBERON:2000033	"" []	80184	\N	\N	EFO	0	EFO	intermediate cell mass of mesoderm	intermediate cell mass of mesoderm
EFO:0003331	UBERON:2000033	\N	"" []	UBERON:2000033	"" []	224907	\N	\N	EFO	1	EFO	zebrafish component	intermediate cell mass of mesoderm
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000033	"" []	581820	\N	\N	EFO	2	EFO	animal component	intermediate cell mass of mesoderm
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000033	"" []	1165867	\N	\N	EFO	3	EFO	anatomy basic component	intermediate cell mass of mesoderm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000033	"" []	2049790	\N	\N	EFO	4	EFO	organism part	intermediate cell mass of mesoderm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000033	"" []	3199766	\N	\N	EFO	5	EFO	material entity	intermediate cell mass of mesoderm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000033	"" []	4404846	\N	\N	EFO	6	EFO	experimental factor	intermediate cell mass of mesoderm
UBERON:2000040	\N	\N	"" []	UBERON:2000040	"" []	80185	\N	\N	EFO	0	EFO	median fin fold	median fin fold
EFO:0003331	UBERON:2000040	\N	"" []	UBERON:2000040	"" []	224908	\N	\N	EFO	1	EFO	zebrafish component	median fin fold
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000040	"" []	581821	\N	\N	EFO	2	EFO	animal component	median fin fold
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000040	"" []	1165868	\N	\N	EFO	3	EFO	anatomy basic component	median fin fold
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000040	"" []	2049791	\N	\N	EFO	4	EFO	organism part	median fin fold
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000040	"" []	3199767	\N	\N	EFO	5	EFO	material entity	median fin fold
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000040	"" []	4404847	\N	\N	EFO	6	EFO	experimental factor	median fin fold
UBERON:2000058	\N	\N	"The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period." []	UBERON:2000058	"The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period." []	80186	\N	\N	EFO	0	EFO	polster	polster
EFO:0003332	UBERON:2000058	\N	"" []	UBERON:2000058	"The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period." []	224909	\N	\N	EFO	1	EFO	zebrafish embryonic structure	polster
EFO:0003331	EFO:0003332	\N	"" []	UBERON:2000058	"The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period." []	581822	\N	\N	EFO	2	EFO	zebrafish component	polster
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000058	"The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period." []	1165869	\N	\N	EFO	3	EFO	animal component	polster
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000058	"The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period." []	2049792	\N	\N	EFO	4	EFO	anatomy basic component	polster
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000058	"The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period." []	3199768	\N	\N	EFO	5	EFO	organism part	polster
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000058	"The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period." []	4404848	\N	\N	EFO	6	EFO	material entity	polster
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000058	"The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period." []	5420280	\N	\N	EFO	7	EFO	experimental factor	polster
UBERON:2000072	\N	\N	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	UBERON:2000072	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	80187	\N	\N	EFO	0	EFO	somite 1	somite 1
EFO:0003331	UBERON:2000072	\N	"" []	UBERON:2000072	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	224910	\N	\N	EFO	1	EFO	zebrafish component	somite 1
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000072	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	581823	\N	\N	EFO	2	EFO	animal component	somite 1
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000072	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	1165870	\N	\N	EFO	3	EFO	anatomy basic component	somite 1
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000072	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	2049793	\N	\N	EFO	4	EFO	organism part	somite 1
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000072	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	3199769	\N	\N	EFO	5	EFO	material entity	somite 1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000072	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	4404849	\N	\N	EFO	6	EFO	experimental factor	somite 1
UBERON:2000073	\N	\N	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	UBERON:2000073	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	80188	\N	\N	EFO	0	EFO	somite 5	somite 5
EFO:0003331	UBERON:2000073	\N	"" []	UBERON:2000073	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	224911	\N	\N	EFO	1	EFO	zebrafish component	somite 5
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000073	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	581824	\N	\N	EFO	2	EFO	animal component	somite 5
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000073	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	1165871	\N	\N	EFO	3	EFO	anatomy basic component	somite 5
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000073	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	2049794	\N	\N	EFO	4	EFO	organism part	somite 5
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000073	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	3199770	\N	\N	EFO	5	EFO	material entity	somite 5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000073	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	4404850	\N	\N	EFO	6	EFO	experimental factor	somite 5
UBERON:2000083	\N	\N	"" []	UBERON:2000083	"" []	80189	\N	\N	EFO	0	EFO	ventral mesoderm	ventral mesoderm
EFO:0003331	UBERON:2000083	\N	"" []	UBERON:2000083	"" []	224912	\N	\N	EFO	1	EFO	zebrafish component	ventral mesoderm
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000083	"" []	581825	\N	\N	EFO	2	EFO	animal component	ventral mesoderm
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000083	"" []	1165872	\N	\N	EFO	3	EFO	anatomy basic component	ventral mesoderm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000083	"" []	2049795	\N	\N	EFO	4	EFO	organism part	ventral mesoderm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000083	"" []	3199771	\N	\N	EFO	5	EFO	material entity	ventral mesoderm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000083	"" []	4404851	\N	\N	EFO	6	EFO	experimental factor	ventral mesoderm
UBERON:2000090	\N	\N	"Apical ectodermal ridge that is part of the dorsal fin." []	UBERON:2000090	"Apical ectodermal ridge that is part of the dorsal fin." []	80190	\N	\N	EFO	0	EFO	apical ectodermal ridge dorsal fin	apical ectodermal ridge dorsal fin
EFO:0003331	UBERON:2000090	\N	"" []	UBERON:2000090	"Apical ectodermal ridge that is part of the dorsal fin." []	224913	\N	\N	EFO	1	EFO	zebrafish component	apical ectodermal ridge dorsal fin
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000090	"Apical ectodermal ridge that is part of the dorsal fin." []	581826	\N	\N	EFO	2	EFO	animal component	apical ectodermal ridge dorsal fin
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000090	"Apical ectodermal ridge that is part of the dorsal fin." []	1165873	\N	\N	EFO	3	EFO	anatomy basic component	apical ectodermal ridge dorsal fin
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000090	"Apical ectodermal ridge that is part of the dorsal fin." []	2049796	\N	\N	EFO	4	EFO	organism part	apical ectodermal ridge dorsal fin
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000090	"Apical ectodermal ridge that is part of the dorsal fin." []	3199772	\N	\N	EFO	5	EFO	material entity	apical ectodermal ridge dorsal fin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000090	"Apical ectodermal ridge that is part of the dorsal fin." []	4404852	\N	\N	EFO	6	EFO	experimental factor	apical ectodermal ridge dorsal fin
UBERON:2000096	\N	\N	"" []	UBERON:2000096	"" []	80191	\N	\N	EFO	0	EFO	cardinal system	cardinal system
EFO:0003331	UBERON:2000096	\N	"" []	UBERON:2000096	"" []	224914	\N	\N	EFO	1	EFO	zebrafish component	cardinal system
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000096	"" []	581827	\N	\N	EFO	2	EFO	animal component	cardinal system
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000096	"" []	1165874	\N	\N	EFO	3	EFO	anatomy basic component	cardinal system
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000096	"" []	2049797	\N	\N	EFO	4	EFO	organism part	cardinal system
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000096	"" []	3199773	\N	\N	EFO	5	EFO	material entity	cardinal system
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000096	"" []	4404853	\N	\N	EFO	6	EFO	experimental factor	cardinal system
UBERON:2000120	\N	\N	"" []	UBERON:2000120	"" []	80192	\N	\N	EFO	0	EFO	lateral line ganglion	lateral line ganglion
EFO:0003331	UBERON:2000120	\N	"" []	UBERON:2000120	"" []	224915	\N	\N	EFO	1	EFO	zebrafish component	lateral line ganglion
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000120	"" []	581828	\N	\N	EFO	2	EFO	animal component	lateral line ganglion
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000120	"" []	1165875	\N	\N	EFO	3	EFO	anatomy basic component	lateral line ganglion
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000120	"" []	2049798	\N	\N	EFO	4	EFO	organism part	lateral line ganglion
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000120	"" []	3199774	\N	\N	EFO	5	EFO	material entity	lateral line ganglion
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000120	"" []	4404854	\N	\N	EFO	6	EFO	experimental factor	lateral line ganglion
UBERON:2000125	\N	\N	"Neuromast that is part of the mandibular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	UBERON:2000125	"Neuromast that is part of the mandibular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	80193	\N	\N	EFO	0	EFO	mandibular lateral line neuromast	mandibular lateral line neuromast
EFO:0003331	UBERON:2000125	\N	"" []	UBERON:2000125	"Neuromast that is part of the mandibular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	224916	\N	\N	EFO	1	EFO	zebrafish component	mandibular lateral line neuromast
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000125	"Neuromast that is part of the mandibular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	581829	\N	\N	EFO	2	EFO	animal component	mandibular lateral line neuromast
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000125	"Neuromast that is part of the mandibular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	1165876	\N	\N	EFO	3	EFO	anatomy basic component	mandibular lateral line neuromast
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000125	"Neuromast that is part of the mandibular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	2049799	\N	\N	EFO	4	EFO	organism part	mandibular lateral line neuromast
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000125	"Neuromast that is part of the mandibular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	3199775	\N	\N	EFO	5	EFO	material entity	mandibular lateral line neuromast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000125	"Neuromast that is part of the mandibular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	4404855	\N	\N	EFO	6	EFO	experimental factor	mandibular lateral line neuromast
UBERON:2000136	\N	\N	"Neuromast that is part of the otic lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	UBERON:2000136	"Neuromast that is part of the otic lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	80194	\N	\N	EFO	0	EFO	otic lateral line neuromast	otic lateral line neuromast
EFO:0003331	UBERON:2000136	\N	"" []	UBERON:2000136	"Neuromast that is part of the otic lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	224917	\N	\N	EFO	1	EFO	zebrafish component	otic lateral line neuromast
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000136	"Neuromast that is part of the otic lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	581830	\N	\N	EFO	2	EFO	animal component	otic lateral line neuromast
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000136	"Neuromast that is part of the otic lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	1165877	\N	\N	EFO	3	EFO	anatomy basic component	otic lateral line neuromast
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000136	"Neuromast that is part of the otic lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	2049800	\N	\N	EFO	4	EFO	organism part	otic lateral line neuromast
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000136	"Neuromast that is part of the otic lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	3199776	\N	\N	EFO	5	EFO	material entity	otic lateral line neuromast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000136	"Neuromast that is part of the otic lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	4404856	\N	\N	EFO	6	EFO	experimental factor	otic lateral line neuromast
UBERON:2000164	\N	\N	"" []	UBERON:2000164	"" []	80195	\N	\N	EFO	0	EFO	ventral mesenchyme	ventral mesenchyme
EFO:0003331	UBERON:2000164	\N	"" []	UBERON:2000164	"" []	224918	\N	\N	EFO	1	EFO	zebrafish component	ventral mesenchyme
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000164	"" []	581831	\N	\N	EFO	2	EFO	animal component	ventral mesenchyme
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000164	"" []	1165878	\N	\N	EFO	3	EFO	anatomy basic component	ventral mesenchyme
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000164	"" []	2049801	\N	\N	EFO	4	EFO	organism part	ventral mesenchyme
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000164	"" []	3199777	\N	\N	EFO	5	EFO	material entity	ventral mesenchyme
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000164	"" []	4404857	\N	\N	EFO	6	EFO	experimental factor	ventral mesenchyme
UBERON:2000175	\N	\N	"Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines." []	UBERON:2000175	"Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines." []	80196	\N	\N	EFO	0	EFO	posterior lateral line nerve	posterior lateral line nerve
EFO:0003331	UBERON:2000175	\N	"" []	UBERON:2000175	"Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines." []	224919	\N	\N	EFO	1	EFO	zebrafish component	posterior lateral line nerve
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000175	"Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines." []	581832	\N	\N	EFO	2	EFO	animal component	posterior lateral line nerve
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000175	"Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines." []	1165879	\N	\N	EFO	3	EFO	anatomy basic component	posterior lateral line nerve
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000175	"Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines." []	2049802	\N	\N	EFO	4	EFO	organism part	posterior lateral line nerve
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000175	"Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines." []	3199778	\N	\N	EFO	5	EFO	material entity	posterior lateral line nerve
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000175	"Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines." []	4404858	\N	\N	EFO	6	EFO	experimental factor	posterior lateral line nerve
UBERON:2000212	\N	\N	"Brain structure which is paired and part of the vestibulolateralis lobe of the cerebellum and extends fibers into the cerebellar crest. From Neuroanatomy of the Zebrafish Brain." []	UBERON:2000212	"Brain structure which is paired and part of the vestibulolateralis lobe of the cerebellum and extends fibers into the cerebellar crest. From Neuroanatomy of the Zebrafish Brain." []	80197	\N	\N	EFO	0	EFO	granular eminence	granular eminence
EFO:0003331	UBERON:2000212	\N	"" []	UBERON:2000212	"Brain structure which is paired and part of the vestibulolateralis lobe of the cerebellum and extends fibers into the cerebellar crest. From Neuroanatomy of the Zebrafish Brain." []	224920	\N	\N	EFO	1	EFO	zebrafish component	granular eminence
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000212	"Brain structure which is paired and part of the vestibulolateralis lobe of the cerebellum and extends fibers into the cerebellar crest. From Neuroanatomy of the Zebrafish Brain." []	581833	\N	\N	EFO	2	EFO	animal component	granular eminence
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000212	"Brain structure which is paired and part of the vestibulolateralis lobe of the cerebellum and extends fibers into the cerebellar crest. From Neuroanatomy of the Zebrafish Brain." []	1165880	\N	\N	EFO	3	EFO	anatomy basic component	granular eminence
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000212	"Brain structure which is paired and part of the vestibulolateralis lobe of the cerebellum and extends fibers into the cerebellar crest. From Neuroanatomy of the Zebrafish Brain." []	2049803	\N	\N	EFO	4	EFO	organism part	granular eminence
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000212	"Brain structure which is paired and part of the vestibulolateralis lobe of the cerebellum and extends fibers into the cerebellar crest. From Neuroanatomy of the Zebrafish Brain." []	3199779	\N	\N	EFO	5	EFO	material entity	granular eminence
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000212	"Brain structure which is paired and part of the vestibulolateralis lobe of the cerebellum and extends fibers into the cerebellar crest. From Neuroanatomy of the Zebrafish Brain." []	4404859	\N	\N	EFO	6	EFO	experimental factor	granular eminence
UBERON:2000240	\N	\N	"The metapterygoid is a posterior bone that ossifies in the cartilaginous palatoquadrate arch. It first appears as a rod of bone with an anterodorsally projecting process from the middle of the dorsal surface (6.4 mm). The adult metapterygoid is roughly rectangular in shape with rounded corners and an anterodorsally projecting spine that meets the entopterygoid medially in a synostosis at its posteromedial edge. The posterior end curves dorsally to form the posteroventral surface of the orbit." []	UBERON:2000240	"The metapterygoid is a posterior bone that ossifies in the cartilaginous palatoquadrate arch. It first appears as a rod of bone with an anterodorsally projecting process from the middle of the dorsal surface (6.4 mm). The adult metapterygoid is roughly rectangular in shape with rounded corners and an anterodorsally projecting spine that meets the entopterygoid medially in a synostosis at its posteromedial edge. The posterior end curves dorsally to form the posteroventral surface of the orbit." []	80198	\N	\N	EFO	0	EFO	metapterygoid	metapterygoid
EFO:0003331	UBERON:2000240	\N	"" []	UBERON:2000240	"The metapterygoid is a posterior bone that ossifies in the cartilaginous palatoquadrate arch. It first appears as a rod of bone with an anterodorsally projecting process from the middle of the dorsal surface (6.4 mm). The adult metapterygoid is roughly rectangular in shape with rounded corners and an anterodorsally projecting spine that meets the entopterygoid medially in a synostosis at its posteromedial edge. The posterior end curves dorsally to form the posteroventral surface of the orbit." []	224921	\N	\N	EFO	1	EFO	zebrafish component	metapterygoid
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000240	"The metapterygoid is a posterior bone that ossifies in the cartilaginous palatoquadrate arch. It first appears as a rod of bone with an anterodorsally projecting process from the middle of the dorsal surface (6.4 mm). The adult metapterygoid is roughly rectangular in shape with rounded corners and an anterodorsally projecting spine that meets the entopterygoid medially in a synostosis at its posteromedial edge. The posterior end curves dorsally to form the posteroventral surface of the orbit." []	581834	\N	\N	EFO	2	EFO	animal component	metapterygoid
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000240	"The metapterygoid is a posterior bone that ossifies in the cartilaginous palatoquadrate arch. It first appears as a rod of bone with an anterodorsally projecting process from the middle of the dorsal surface (6.4 mm). The adult metapterygoid is roughly rectangular in shape with rounded corners and an anterodorsally projecting spine that meets the entopterygoid medially in a synostosis at its posteromedial edge. The posterior end curves dorsally to form the posteroventral surface of the orbit." []	1165881	\N	\N	EFO	3	EFO	anatomy basic component	metapterygoid
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000240	"The metapterygoid is a posterior bone that ossifies in the cartilaginous palatoquadrate arch. It first appears as a rod of bone with an anterodorsally projecting process from the middle of the dorsal surface (6.4 mm). The adult metapterygoid is roughly rectangular in shape with rounded corners and an anterodorsally projecting spine that meets the entopterygoid medially in a synostosis at its posteromedial edge. The posterior end curves dorsally to form the posteroventral surface of the orbit." []	2049804	\N	\N	EFO	4	EFO	organism part	metapterygoid
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000240	"The metapterygoid is a posterior bone that ossifies in the cartilaginous palatoquadrate arch. It first appears as a rod of bone with an anterodorsally projecting process from the middle of the dorsal surface (6.4 mm). The adult metapterygoid is roughly rectangular in shape with rounded corners and an anterodorsally projecting spine that meets the entopterygoid medially in a synostosis at its posteromedial edge. The posterior end curves dorsally to form the posteroventral surface of the orbit." []	3199780	\N	\N	EFO	5	EFO	material entity	metapterygoid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000240	"The metapterygoid is a posterior bone that ossifies in the cartilaginous palatoquadrate arch. It first appears as a rod of bone with an anterodorsally projecting process from the middle of the dorsal surface (6.4 mm). The adult metapterygoid is roughly rectangular in shape with rounded corners and an anterodorsally projecting spine that meets the entopterygoid medially in a synostosis at its posteromedial edge. The posterior end curves dorsally to form the posteroventral surface of the orbit." []	4404860	\N	\N	EFO	6	EFO	experimental factor	metapterygoid
UBERON:2000250	\N	\N	"Dermal bone that articulates anteriorly with the hyomandibula. The opercle is paired and typically the largest bone of the opercular series." []	UBERON:2000250	"Dermal bone that articulates anteriorly with the hyomandibula. The opercle is paired and typically the largest bone of the opercular series." []	80199	\N	\N	EFO	0	EFO	opercle	opercle
EFO:0003331	UBERON:2000250	\N	"" []	UBERON:2000250	"Dermal bone that articulates anteriorly with the hyomandibula. The opercle is paired and typically the largest bone of the opercular series." []	224922	\N	\N	EFO	1	EFO	zebrafish component	opercle
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000250	"Dermal bone that articulates anteriorly with the hyomandibula. The opercle is paired and typically the largest bone of the opercular series." []	581835	\N	\N	EFO	2	EFO	animal component	opercle
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000250	"Dermal bone that articulates anteriorly with the hyomandibula. The opercle is paired and typically the largest bone of the opercular series." []	1165882	\N	\N	EFO	3	EFO	anatomy basic component	opercle
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000250	"Dermal bone that articulates anteriorly with the hyomandibula. The opercle is paired and typically the largest bone of the opercular series." []	2049805	\N	\N	EFO	4	EFO	organism part	opercle
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000250	"Dermal bone that articulates anteriorly with the hyomandibula. The opercle is paired and typically the largest bone of the opercular series." []	3199781	\N	\N	EFO	5	EFO	material entity	opercle
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000250	"Dermal bone that articulates anteriorly with the hyomandibula. The opercle is paired and typically the largest bone of the opercular series." []	4404861	\N	\N	EFO	6	EFO	experimental factor	opercle
UBERON:2000264	\N	\N	"Dermal bone that is part of the opercular flap and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle." []	UBERON:2000264	"Dermal bone that is part of the opercular flap and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle." []	80200	\N	\N	EFO	0	EFO	preopercle	preopercle
EFO:0003331	UBERON:2000264	\N	"" []	UBERON:2000264	"Dermal bone that is part of the opercular flap and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle." []	224923	\N	\N	EFO	1	EFO	zebrafish component	preopercle
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000264	"Dermal bone that is part of the opercular flap and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle." []	581836	\N	\N	EFO	2	EFO	animal component	preopercle
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000264	"Dermal bone that is part of the opercular flap and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle." []	1165883	\N	\N	EFO	3	EFO	anatomy basic component	preopercle
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000264	"Dermal bone that is part of the opercular flap and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle." []	2049806	\N	\N	EFO	4	EFO	organism part	preopercle
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000264	"Dermal bone that is part of the opercular flap and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle." []	3199782	\N	\N	EFO	5	EFO	material entity	preopercle
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000264	"Dermal bone that is part of the opercular flap and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle." []	4404862	\N	\N	EFO	6	EFO	experimental factor	preopercle
UBERON:2000284	\N	\N	"Dermal bone lying below the opercle. The subopercle is a paired bone." []	UBERON:2000284	"Dermal bone lying below the opercle. The subopercle is a paired bone." []	80201	\N	\N	EFO	0	EFO	subopercle	subopercle
EFO:0003331	UBERON:2000284	\N	"" []	UBERON:2000284	"Dermal bone lying below the opercle. The subopercle is a paired bone." []	224924	\N	\N	EFO	1	EFO	zebrafish component	subopercle
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000284	"Dermal bone lying below the opercle. The subopercle is a paired bone." []	581837	\N	\N	EFO	2	EFO	animal component	subopercle
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000284	"Dermal bone lying below the opercle. The subopercle is a paired bone." []	1165884	\N	\N	EFO	3	EFO	anatomy basic component	subopercle
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000284	"Dermal bone lying below the opercle. The subopercle is a paired bone." []	2049807	\N	\N	EFO	4	EFO	organism part	subopercle
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000284	"Dermal bone lying below the opercle. The subopercle is a paired bone." []	3199783	\N	\N	EFO	5	EFO	material entity	subopercle
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000284	"Dermal bone lying below the opercle. The subopercle is a paired bone." []	4404863	\N	\N	EFO	6	EFO	experimental factor	subopercle
UBERON:2000291	\N	\N	"" []	UBERON:2000291	"" []	80202	\N	\N	EFO	0	EFO	medial octavolateralis nucleus	medial octavolateralis nucleus
EFO:0003331	UBERON:2000291	\N	"" []	UBERON:2000291	"" []	224925	\N	\N	EFO	1	EFO	zebrafish component	medial octavolateralis nucleus
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000291	"" []	581838	\N	\N	EFO	2	EFO	animal component	medial octavolateralis nucleus
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000291	"" []	1165885	\N	\N	EFO	3	EFO	anatomy basic component	medial octavolateralis nucleus
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000291	"" []	2049808	\N	\N	EFO	4	EFO	organism part	medial octavolateralis nucleus
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000291	"" []	3199784	\N	\N	EFO	5	EFO	material entity	medial octavolateralis nucleus
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000291	"" []	4404864	\N	\N	EFO	6	EFO	experimental factor	medial octavolateralis nucleus
UBERON:2000294	\N	\N	"Diencephalic nucleus which is part of the caudal tuberculum. From Neuroanatomy of the Zebrafish Brain." []	UBERON:2000294	"Diencephalic nucleus which is part of the caudal tuberculum. From Neuroanatomy of the Zebrafish Brain." []	80203	\N	\N	EFO	0	EFO	torus lateralis	torus lateralis
EFO:0003331	UBERON:2000294	\N	"" []	UBERON:2000294	"Diencephalic nucleus which is part of the caudal tuberculum. From Neuroanatomy of the Zebrafish Brain." []	224926	\N	\N	EFO	1	EFO	zebrafish component	torus lateralis
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000294	"Diencephalic nucleus which is part of the caudal tuberculum. From Neuroanatomy of the Zebrafish Brain." []	581839	\N	\N	EFO	2	EFO	animal component	torus lateralis
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000294	"Diencephalic nucleus which is part of the caudal tuberculum. From Neuroanatomy of the Zebrafish Brain." []	1165886	\N	\N	EFO	3	EFO	anatomy basic component	torus lateralis
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000294	"Diencephalic nucleus which is part of the caudal tuberculum. From Neuroanatomy of the Zebrafish Brain." []	2049809	\N	\N	EFO	4	EFO	organism part	torus lateralis
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000294	"Diencephalic nucleus which is part of the caudal tuberculum. From Neuroanatomy of the Zebrafish Brain." []	3199785	\N	\N	EFO	5	EFO	material entity	torus lateralis
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000294	"Diencephalic nucleus which is part of the caudal tuberculum. From Neuroanatomy of the Zebrafish Brain." []	4404865	\N	\N	EFO	6	EFO	experimental factor	torus lateralis
UBERON:2000309	\N	\N	"The portion of the YSL that is outside of the blastoderm margin during epiboly." []	UBERON:2000309	"The portion of the YSL that is outside of the blastoderm margin during epiboly." []	80204	\N	\N	EFO	0	EFO	E-YSL	E-YSL
EFO:0003331	UBERON:2000309	\N	"" []	UBERON:2000309	"The portion of the YSL that is outside of the blastoderm margin during epiboly." []	224927	\N	\N	EFO	1	EFO	zebrafish component	E-YSL
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000309	"The portion of the YSL that is outside of the blastoderm margin during epiboly." []	581840	\N	\N	EFO	2	EFO	animal component	E-YSL
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000309	"The portion of the YSL that is outside of the blastoderm margin during epiboly." []	1165887	\N	\N	EFO	3	EFO	anatomy basic component	E-YSL
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000309	"The portion of the YSL that is outside of the blastoderm margin during epiboly." []	2049810	\N	\N	EFO	4	EFO	organism part	E-YSL
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000309	"The portion of the YSL that is outside of the blastoderm margin during epiboly." []	3199786	\N	\N	EFO	5	EFO	material entity	E-YSL
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000309	"The portion of the YSL that is outside of the blastoderm margin during epiboly." []	4404866	\N	\N	EFO	6	EFO	experimental factor	E-YSL
UBERON:2000414	\N	\N	"" []	UBERON:2000414	"" []	80205	\N	\N	EFO	0	EFO	presumptive cephalic mesoderm	presumptive cephalic mesoderm
EFO:0003332	UBERON:2000414	\N	"" []	UBERON:2000414	"" []	224928	\N	\N	EFO	1	EFO	zebrafish embryonic structure	presumptive cephalic mesoderm
EFO:0003331	EFO:0003332	\N	"" []	UBERON:2000414	"" []	581841	\N	\N	EFO	2	EFO	zebrafish component	presumptive cephalic mesoderm
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000414	"" []	1165888	\N	\N	EFO	3	EFO	animal component	presumptive cephalic mesoderm
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000414	"" []	2049811	\N	\N	EFO	4	EFO	anatomy basic component	presumptive cephalic mesoderm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000414	"" []	3199787	\N	\N	EFO	5	EFO	organism part	presumptive cephalic mesoderm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000414	"" []	4404867	\N	\N	EFO	6	EFO	material entity	presumptive cephalic mesoderm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000414	"" []	5420281	\N	\N	EFO	7	EFO	experimental factor	presumptive cephalic mesoderm
UBERON:2000419	\N	\N	"Paired cartilage bones, flat and hexagonal in shape that contact the orbitosphenoid anteriorly. Roofed by the frontal and bordered posteriorly by the prootic and sphenotic, the pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves." []	UBERON:2000419	"Paired cartilage bones, flat and hexagonal in shape that contact the orbitosphenoid anteriorly. Roofed by the frontal and bordered posteriorly by the prootic and sphenotic, the pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves." []	80206	\N	\N	EFO	0	EFO	pterosphenoid	pterosphenoid
EFO:0003331	UBERON:2000419	\N	"" []	UBERON:2000419	"Paired cartilage bones, flat and hexagonal in shape that contact the orbitosphenoid anteriorly. Roofed by the frontal and bordered posteriorly by the prootic and sphenotic, the pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves." []	224929	\N	\N	EFO	1	EFO	zebrafish component	pterosphenoid
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000419	"Paired cartilage bones, flat and hexagonal in shape that contact the orbitosphenoid anteriorly. Roofed by the frontal and bordered posteriorly by the prootic and sphenotic, the pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves." []	581842	\N	\N	EFO	2	EFO	animal component	pterosphenoid
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000419	"Paired cartilage bones, flat and hexagonal in shape that contact the orbitosphenoid anteriorly. Roofed by the frontal and bordered posteriorly by the prootic and sphenotic, the pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves." []	1165889	\N	\N	EFO	3	EFO	anatomy basic component	pterosphenoid
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000419	"Paired cartilage bones, flat and hexagonal in shape that contact the orbitosphenoid anteriorly. Roofed by the frontal and bordered posteriorly by the prootic and sphenotic, the pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves." []	2049812	\N	\N	EFO	4	EFO	organism part	pterosphenoid
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000419	"Paired cartilage bones, flat and hexagonal in shape that contact the orbitosphenoid anteriorly. Roofed by the frontal and bordered posteriorly by the prootic and sphenotic, the pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves." []	3199788	\N	\N	EFO	5	EFO	material entity	pterosphenoid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000419	"Paired cartilage bones, flat and hexagonal in shape that contact the orbitosphenoid anteriorly. Roofed by the frontal and bordered posteriorly by the prootic and sphenotic, the pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves." []	4404868	\N	\N	EFO	6	EFO	experimental factor	pterosphenoid
UBERON:2000422	\N	\N	"The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly." []	UBERON:2000422	"The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly." []	80207	\N	\N	EFO	0	EFO	retroarticular	retroarticular
EFO:0003331	UBERON:2000422	\N	"" []	UBERON:2000422	"The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly." []	224930	\N	\N	EFO	1	EFO	zebrafish component	retroarticular
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000422	"The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly." []	581843	\N	\N	EFO	2	EFO	animal component	retroarticular
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000422	"The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly." []	1165890	\N	\N	EFO	3	EFO	anatomy basic component	retroarticular
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000422	"The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly." []	2049813	\N	\N	EFO	4	EFO	organism part	retroarticular
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000422	"The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly." []	3199789	\N	\N	EFO	5	EFO	material entity	retroarticular
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000422	"The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly." []	4404869	\N	\N	EFO	6	EFO	experimental factor	retroarticular
UBERON:2000425	\N	\N	"Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain." []	UBERON:2000425	"Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain." []	80208	\N	\N	EFO	0	EFO	anterior lateral line nerve	anterior lateral line nerve
EFO:0003331	UBERON:2000425	\N	"" []	UBERON:2000425	"Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain." []	224931	\N	\N	EFO	1	EFO	zebrafish component	anterior lateral line nerve
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000425	"Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain." []	581844	\N	\N	EFO	2	EFO	animal component	anterior lateral line nerve
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000425	"Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain." []	1165891	\N	\N	EFO	3	EFO	anatomy basic component	anterior lateral line nerve
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000425	"Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain." []	2049814	\N	\N	EFO	4	EFO	organism part	anterior lateral line nerve
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000425	"Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain." []	3199790	\N	\N	EFO	5	EFO	material entity	anterior lateral line nerve
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000425	"Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain." []	4404870	\N	\N	EFO	6	EFO	experimental factor	anterior lateral line nerve
UBERON:2000475	\N	\N	"Diencephalic nucleus which is located anterior to the caudal tuberal nucleus and contains tyrosine hydroxylase immunoreactive CSF contacting bipolar cells." []	UBERON:2000475	"Diencephalic nucleus which is located anterior to the caudal tuberal nucleus and contains tyrosine hydroxylase immunoreactive CSF contacting bipolar cells." []	80209	\N	\N	EFO	0	EFO	paraventricular organ	paraventricular organ
EFO:0003331	UBERON:2000475	\N	"" []	UBERON:2000475	"Diencephalic nucleus which is located anterior to the caudal tuberal nucleus and contains tyrosine hydroxylase immunoreactive CSF contacting bipolar cells." []	224932	\N	\N	EFO	1	EFO	zebrafish component	paraventricular organ
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000475	"Diencephalic nucleus which is located anterior to the caudal tuberal nucleus and contains tyrosine hydroxylase immunoreactive CSF contacting bipolar cells." []	581845	\N	\N	EFO	2	EFO	animal component	paraventricular organ
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000475	"Diencephalic nucleus which is located anterior to the caudal tuberal nucleus and contains tyrosine hydroxylase immunoreactive CSF contacting bipolar cells." []	1165892	\N	\N	EFO	3	EFO	anatomy basic component	paraventricular organ
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000475	"Diencephalic nucleus which is located anterior to the caudal tuberal nucleus and contains tyrosine hydroxylase immunoreactive CSF contacting bipolar cells." []	2049815	\N	\N	EFO	4	EFO	organism part	paraventricular organ
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000475	"Diencephalic nucleus which is located anterior to the caudal tuberal nucleus and contains tyrosine hydroxylase immunoreactive CSF contacting bipolar cells." []	3199791	\N	\N	EFO	5	EFO	material entity	paraventricular organ
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000475	"Diencephalic nucleus which is located anterior to the caudal tuberal nucleus and contains tyrosine hydroxylase immunoreactive CSF contacting bipolar cells." []	4404871	\N	\N	EFO	6	EFO	experimental factor	paraventricular organ
UBERON:2000482	\N	\N	"Diencephalic nucleus which is located posterior to the paraventricular organ." []	UBERON:2000482	"Diencephalic nucleus which is located posterior to the paraventricular organ." []	80210	\N	\N	EFO	0	EFO	caudal tuberal nucleus	caudal tuberal nucleus
EFO:0003331	UBERON:2000482	\N	"" []	UBERON:2000482	"Diencephalic nucleus which is located posterior to the paraventricular organ." []	224933	\N	\N	EFO	1	EFO	zebrafish component	caudal tuberal nucleus
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000482	"Diencephalic nucleus which is located posterior to the paraventricular organ." []	581846	\N	\N	EFO	2	EFO	animal component	caudal tuberal nucleus
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000482	"Diencephalic nucleus which is located posterior to the paraventricular organ." []	1165893	\N	\N	EFO	3	EFO	anatomy basic component	caudal tuberal nucleus
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000482	"Diencephalic nucleus which is located posterior to the paraventricular organ." []	2049816	\N	\N	EFO	4	EFO	organism part	caudal tuberal nucleus
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000482	"Diencephalic nucleus which is located posterior to the paraventricular organ." []	3199792	\N	\N	EFO	5	EFO	material entity	caudal tuberal nucleus
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000482	"Diencephalic nucleus which is located posterior to the paraventricular organ." []	4404872	\N	\N	EFO	6	EFO	experimental factor	caudal tuberal nucleus
UBERON:2000516	\N	\N	"" []	UBERON:2000516	"" []	80211	\N	\N	EFO	0	EFO	periventricular grey zone	periventricular grey zone
EFO:0003331	UBERON:2000516	\N	"" []	UBERON:2000516	"" []	224934	\N	\N	EFO	1	EFO	zebrafish component	periventricular grey zone
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000516	"" []	581847	\N	\N	EFO	2	EFO	animal component	periventricular grey zone
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000516	"" []	1165894	\N	\N	EFO	3	EFO	anatomy basic component	periventricular grey zone
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000516	"" []	2049817	\N	\N	EFO	4	EFO	organism part	periventricular grey zone
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000516	"" []	3199793	\N	\N	EFO	5	EFO	material entity	periventricular grey zone
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000516	"" []	4404873	\N	\N	EFO	6	EFO	experimental factor	periventricular grey zone
UBERON:2000549	\N	\N	"Paired fin bone that attaches the pectoral girdle to the skull via two projections contacting the epiotic and intercalar bones, and carry the main laterosensory canal." []	UBERON:2000549	"Paired fin bone that attaches the pectoral girdle to the skull via two projections contacting the epiotic and intercalar bones, and carry the main laterosensory canal." []	80212	\N	\N	EFO	0	EFO	posttemporal	posttemporal
EFO:0003331	UBERON:2000549	\N	"" []	UBERON:2000549	"Paired fin bone that attaches the pectoral girdle to the skull via two projections contacting the epiotic and intercalar bones, and carry the main laterosensory canal." []	224935	\N	\N	EFO	1	EFO	zebrafish component	posttemporal
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000549	"Paired fin bone that attaches the pectoral girdle to the skull via two projections contacting the epiotic and intercalar bones, and carry the main laterosensory canal." []	581848	\N	\N	EFO	2	EFO	animal component	posttemporal
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000549	"Paired fin bone that attaches the pectoral girdle to the skull via two projections contacting the epiotic and intercalar bones, and carry the main laterosensory canal." []	1165895	\N	\N	EFO	3	EFO	anatomy basic component	posttemporal
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000549	"Paired fin bone that attaches the pectoral girdle to the skull via two projections contacting the epiotic and intercalar bones, and carry the main laterosensory canal." []	2049818	\N	\N	EFO	4	EFO	organism part	posttemporal
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000549	"Paired fin bone that attaches the pectoral girdle to the skull via two projections contacting the epiotic and intercalar bones, and carry the main laterosensory canal." []	3199794	\N	\N	EFO	5	EFO	material entity	posttemporal
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000549	"Paired fin bone that attaches the pectoral girdle to the skull via two projections contacting the epiotic and intercalar bones, and carry the main laterosensory canal." []	4404874	\N	\N	EFO	6	EFO	experimental factor	posttemporal
UBERON:2000599	\N	\N	"Multi-tissue structure that is part of the midbrain and develops from the alar plate. The torus semicircularis is located dorsal to the lateral tegmentum where it extends into the medial tectal ventricle and receives ascending sensory octavolateralis input." []	UBERON:2000599	"Multi-tissue structure that is part of the midbrain and develops from the alar plate. The torus semicircularis is located dorsal to the lateral tegmentum where it extends into the medial tectal ventricle and receives ascending sensory octavolateralis input." []	80213	\N	\N	EFO	0	EFO	torus semicircularis	torus semicircularis
EFO:0003331	UBERON:2000599	\N	"" []	UBERON:2000599	"Multi-tissue structure that is part of the midbrain and develops from the alar plate. The torus semicircularis is located dorsal to the lateral tegmentum where it extends into the medial tectal ventricle and receives ascending sensory octavolateralis input." []	224936	\N	\N	EFO	1	EFO	zebrafish component	torus semicircularis
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000599	"Multi-tissue structure that is part of the midbrain and develops from the alar plate. The torus semicircularis is located dorsal to the lateral tegmentum where it extends into the medial tectal ventricle and receives ascending sensory octavolateralis input." []	581849	\N	\N	EFO	2	EFO	animal component	torus semicircularis
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000599	"Multi-tissue structure that is part of the midbrain and develops from the alar plate. The torus semicircularis is located dorsal to the lateral tegmentum where it extends into the medial tectal ventricle and receives ascending sensory octavolateralis input." []	1165896	\N	\N	EFO	3	EFO	anatomy basic component	torus semicircularis
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000599	"Multi-tissue structure that is part of the midbrain and develops from the alar plate. The torus semicircularis is located dorsal to the lateral tegmentum where it extends into the medial tectal ventricle and receives ascending sensory octavolateralis input." []	2049819	\N	\N	EFO	4	EFO	organism part	torus semicircularis
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000599	"Multi-tissue structure that is part of the midbrain and develops from the alar plate. The torus semicircularis is located dorsal to the lateral tegmentum where it extends into the medial tectal ventricle and receives ascending sensory octavolateralis input." []	3199795	\N	\N	EFO	5	EFO	material entity	torus semicircularis
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000599	"Multi-tissue structure that is part of the midbrain and develops from the alar plate. The torus semicircularis is located dorsal to the lateral tegmentum where it extends into the medial tectal ventricle and receives ascending sensory octavolateralis input." []	4404875	\N	\N	EFO	6	EFO	experimental factor	torus semicircularis
UBERON:2000603	\N	\N	"Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain." []	UBERON:2000603	"Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain." []	80214	\N	\N	EFO	0	EFO	valvula cerebelli	valvula cerebelli
EFO:0003331	UBERON:2000603	\N	"" []	UBERON:2000603	"Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain." []	224937	\N	\N	EFO	1	EFO	zebrafish component	valvula cerebelli
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000603	"Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain." []	581850	\N	\N	EFO	2	EFO	animal component	valvula cerebelli
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000603	"Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain." []	1165897	\N	\N	EFO	3	EFO	anatomy basic component	valvula cerebelli
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000603	"Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain." []	2049820	\N	\N	EFO	4	EFO	organism part	valvula cerebelli
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000603	"Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain." []	3199796	\N	\N	EFO	5	EFO	material entity	valvula cerebelli
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000603	"Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain." []	4404876	\N	\N	EFO	6	EFO	experimental factor	valvula cerebelli
UBERON:2000610	\N	\N	"Connective tissue partitions developing between the myotomes." []	UBERON:2000610	"Connective tissue partitions developing between the myotomes." []	80215	\N	\N	EFO	0	EFO	vertical myoseptum	vertical myoseptum
EFO:0003331	UBERON:2000610	\N	"" []	UBERON:2000610	"Connective tissue partitions developing between the myotomes." []	224938	\N	\N	EFO	1	EFO	zebrafish component	vertical myoseptum
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000610	"Connective tissue partitions developing between the myotomes." []	581851	\N	\N	EFO	2	EFO	animal component	vertical myoseptum
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000610	"Connective tissue partitions developing between the myotomes." []	1165898	\N	\N	EFO	3	EFO	anatomy basic component	vertical myoseptum
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000610	"Connective tissue partitions developing between the myotomes." []	2049821	\N	\N	EFO	4	EFO	organism part	vertical myoseptum
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000610	"Connective tissue partitions developing between the myotomes." []	3199797	\N	\N	EFO	5	EFO	material entity	vertical myoseptum
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000610	"Connective tissue partitions developing between the myotomes." []	4404877	\N	\N	EFO	6	EFO	experimental factor	vertical myoseptum
UBERON:2000627	\N	\N	"Endochondral bone that begins ossifying on the anterior surface of the posterior end of the ceratohyal cartilage near the site of articulation with the interhyal (5.8 mm). It joins the ceratohyal in a pad of persisting cartilage." []	UBERON:2000627	"Endochondral bone that begins ossifying on the anterior surface of the posterior end of the ceratohyal cartilage near the site of articulation with the interhyal (5.8 mm). It joins the ceratohyal in a pad of persisting cartilage." []	80216	\N	\N	EFO	0	EFO	epihyal	epihyal
EFO:0003331	UBERON:2000627	\N	"" []	UBERON:2000627	"Endochondral bone that begins ossifying on the anterior surface of the posterior end of the ceratohyal cartilage near the site of articulation with the interhyal (5.8 mm). It joins the ceratohyal in a pad of persisting cartilage." []	224939	\N	\N	EFO	1	EFO	zebrafish component	epihyal
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000627	"Endochondral bone that begins ossifying on the anterior surface of the posterior end of the ceratohyal cartilage near the site of articulation with the interhyal (5.8 mm). It joins the ceratohyal in a pad of persisting cartilage." []	581852	\N	\N	EFO	2	EFO	animal component	epihyal
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000627	"Endochondral bone that begins ossifying on the anterior surface of the posterior end of the ceratohyal cartilage near the site of articulation with the interhyal (5.8 mm). It joins the ceratohyal in a pad of persisting cartilage." []	1165899	\N	\N	EFO	3	EFO	anatomy basic component	epihyal
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000627	"Endochondral bone that begins ossifying on the anterior surface of the posterior end of the ceratohyal cartilage near the site of articulation with the interhyal (5.8 mm). It joins the ceratohyal in a pad of persisting cartilage." []	2049822	\N	\N	EFO	4	EFO	organism part	epihyal
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000627	"Endochondral bone that begins ossifying on the anterior surface of the posterior end of the ceratohyal cartilage near the site of articulation with the interhyal (5.8 mm). It joins the ceratohyal in a pad of persisting cartilage." []	3199798	\N	\N	EFO	5	EFO	material entity	epihyal
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000627	"Endochondral bone that begins ossifying on the anterior surface of the posterior end of the ceratohyal cartilage near the site of articulation with the interhyal (5.8 mm). It joins the ceratohyal in a pad of persisting cartilage." []	4404878	\N	\N	EFO	6	EFO	experimental factor	epihyal
UBERON:2000633	\N	\N	"Brain structure which is part of the diencephalon and is larger than the dorsal thalamus and ventral thalamus. From Neuroanatomy of the Zebrafish Brain." []	UBERON:2000633	"Brain structure which is part of the diencephalon and is larger than the dorsal thalamus and ventral thalamus. From Neuroanatomy of the Zebrafish Brain." []	80217	\N	\N	EFO	0	EFO	caudal tuberculum	caudal tuberculum
EFO:0003331	UBERON:2000633	\N	"" []	UBERON:2000633	"Brain structure which is part of the diencephalon and is larger than the dorsal thalamus and ventral thalamus. From Neuroanatomy of the Zebrafish Brain." []	224940	\N	\N	EFO	1	EFO	zebrafish component	caudal tuberculum
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000633	"Brain structure which is part of the diencephalon and is larger than the dorsal thalamus and ventral thalamus. From Neuroanatomy of the Zebrafish Brain." []	581853	\N	\N	EFO	2	EFO	animal component	caudal tuberculum
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000633	"Brain structure which is part of the diencephalon and is larger than the dorsal thalamus and ventral thalamus. From Neuroanatomy of the Zebrafish Brain." []	1165900	\N	\N	EFO	3	EFO	anatomy basic component	caudal tuberculum
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000633	"Brain structure which is part of the diencephalon and is larger than the dorsal thalamus and ventral thalamus. From Neuroanatomy of the Zebrafish Brain." []	2049823	\N	\N	EFO	4	EFO	organism part	caudal tuberculum
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000633	"Brain structure which is part of the diencephalon and is larger than the dorsal thalamus and ventral thalamus. From Neuroanatomy of the Zebrafish Brain." []	3199799	\N	\N	EFO	5	EFO	material entity	caudal tuberculum
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000633	"Brain structure which is part of the diencephalon and is larger than the dorsal thalamus and ventral thalamus. From Neuroanatomy of the Zebrafish Brain." []	4404879	\N	\N	EFO	6	EFO	experimental factor	caudal tuberculum
UBERON:2000645	\N	\N	"" []	UBERON:2000645	"" []	80218	\N	\N	EFO	0	EFO	descending octaval nucleus	descending octaval nucleus
EFO:0003331	UBERON:2000645	\N	"" []	UBERON:2000645	"" []	224941	\N	\N	EFO	1	EFO	zebrafish component	descending octaval nucleus
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000645	"" []	581854	\N	\N	EFO	2	EFO	animal component	descending octaval nucleus
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000645	"" []	1165901	\N	\N	EFO	3	EFO	anatomy basic component	descending octaval nucleus
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000645	"" []	2049824	\N	\N	EFO	4	EFO	organism part	descending octaval nucleus
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000645	"" []	3199800	\N	\N	EFO	5	EFO	material entity	descending octaval nucleus
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000645	"" []	4404880	\N	\N	EFO	6	EFO	experimental factor	descending octaval nucleus
UBERON:2000657	\N	\N	"The entopterygoid is a dermal bone that forms the anteroventral and ventral surface of the orbit. It develops as a long sliver of bone developing in the membrane dorsomedial to the palatoquadrate cartilage (3.8 mm NL)." []	UBERON:2000657	"The entopterygoid is a dermal bone that forms the anteroventral and ventral surface of the orbit. It develops as a long sliver of bone developing in the membrane dorsomedial to the palatoquadrate cartilage (3.8 mm NL)." []	80220	\N	\N	EFO	0	EFO	entopterygoid	entopterygoid
EFO:0003331	UBERON:2000657	\N	"" []	UBERON:2000657	"The entopterygoid is a dermal bone that forms the anteroventral and ventral surface of the orbit. It develops as a long sliver of bone developing in the membrane dorsomedial to the palatoquadrate cartilage (3.8 mm NL)." []	224942	\N	\N	EFO	1	EFO	zebrafish component	entopterygoid
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000657	"The entopterygoid is a dermal bone that forms the anteroventral and ventral surface of the orbit. It develops as a long sliver of bone developing in the membrane dorsomedial to the palatoquadrate cartilage (3.8 mm NL)." []	581855	\N	\N	EFO	2	EFO	animal component	entopterygoid
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000657	"The entopterygoid is a dermal bone that forms the anteroventral and ventral surface of the orbit. It develops as a long sliver of bone developing in the membrane dorsomedial to the palatoquadrate cartilage (3.8 mm NL)." []	1165902	\N	\N	EFO	3	EFO	anatomy basic component	entopterygoid
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000657	"The entopterygoid is a dermal bone that forms the anteroventral and ventral surface of the orbit. It develops as a long sliver of bone developing in the membrane dorsomedial to the palatoquadrate cartilage (3.8 mm NL)." []	2049825	\N	\N	EFO	4	EFO	organism part	entopterygoid
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000657	"The entopterygoid is a dermal bone that forms the anteroventral and ventral surface of the orbit. It develops as a long sliver of bone developing in the membrane dorsomedial to the palatoquadrate cartilage (3.8 mm NL)." []	3199801	\N	\N	EFO	5	EFO	material entity	entopterygoid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000657	"The entopterygoid is a dermal bone that forms the anteroventral and ventral surface of the orbit. It develops as a long sliver of bone developing in the membrane dorsomedial to the palatoquadrate cartilage (3.8 mm NL)." []	4404881	\N	\N	EFO	6	EFO	experimental factor	entopterygoid
UBERON:2000674	\N	\N	"Dermal bone that is located anterior to the subopercle and lying below and slightly ventral to the horizontal limb of the preopercle. The interopercle is a paired bone." []	UBERON:2000674	"Dermal bone that is located anterior to the subopercle and lying below and slightly ventral to the horizontal limb of the preopercle. The interopercle is a paired bone." []	80221	\N	\N	EFO	0	EFO	interopercle	interopercle
EFO:0003331	UBERON:2000674	\N	"" []	UBERON:2000674	"Dermal bone that is located anterior to the subopercle and lying below and slightly ventral to the horizontal limb of the preopercle. The interopercle is a paired bone." []	224943	\N	\N	EFO	1	EFO	zebrafish component	interopercle
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000674	"Dermal bone that is located anterior to the subopercle and lying below and slightly ventral to the horizontal limb of the preopercle. The interopercle is a paired bone." []	581856	\N	\N	EFO	2	EFO	animal component	interopercle
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000674	"Dermal bone that is located anterior to the subopercle and lying below and slightly ventral to the horizontal limb of the preopercle. The interopercle is a paired bone." []	1165903	\N	\N	EFO	3	EFO	anatomy basic component	interopercle
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000674	"Dermal bone that is located anterior to the subopercle and lying below and slightly ventral to the horizontal limb of the preopercle. The interopercle is a paired bone." []	2049826	\N	\N	EFO	4	EFO	organism part	interopercle
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000674	"Dermal bone that is located anterior to the subopercle and lying below and slightly ventral to the horizontal limb of the preopercle. The interopercle is a paired bone." []	3199802	\N	\N	EFO	5	EFO	material entity	interopercle
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000674	"Dermal bone that is located anterior to the subopercle and lying below and slightly ventral to the horizontal limb of the preopercle. The interopercle is a paired bone." []	4404882	\N	\N	EFO	6	EFO	experimental factor	interopercle
UBERON:2000692	\N	\N	"The symplectic is an irregularly rod-shaped cartilage replacement bone articulating with the hyomandibular and quadrate." []	UBERON:2000692	"The symplectic is an irregularly rod-shaped cartilage replacement bone articulating with the hyomandibular and quadrate." []	80223	\N	\N	EFO	0	EFO	symplectic	symplectic
EFO:0003331	UBERON:2000692	\N	"" []	UBERON:2000692	"The symplectic is an irregularly rod-shaped cartilage replacement bone articulating with the hyomandibular and quadrate." []	224944	\N	\N	EFO	1	EFO	zebrafish component	symplectic
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000692	"The symplectic is an irregularly rod-shaped cartilage replacement bone articulating with the hyomandibular and quadrate." []	581857	\N	\N	EFO	2	EFO	animal component	symplectic
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000692	"The symplectic is an irregularly rod-shaped cartilage replacement bone articulating with the hyomandibular and quadrate." []	1165904	\N	\N	EFO	3	EFO	anatomy basic component	symplectic
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000692	"The symplectic is an irregularly rod-shaped cartilage replacement bone articulating with the hyomandibular and quadrate." []	2049827	\N	\N	EFO	4	EFO	organism part	symplectic
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000692	"The symplectic is an irregularly rod-shaped cartilage replacement bone articulating with the hyomandibular and quadrate." []	3199803	\N	\N	EFO	5	EFO	material entity	symplectic
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000692	"The symplectic is an irregularly rod-shaped cartilage replacement bone articulating with the hyomandibular and quadrate." []	4404883	\N	\N	EFO	6	EFO	experimental factor	symplectic
UBERON:2000693	\N	\N	"" []	UBERON:2000693	"" []	80224	\N	\N	EFO	0	EFO	tangential nucleus	tangential nucleus
EFO:0003331	UBERON:2000693	\N	"" []	UBERON:2000693	"" []	224945	\N	\N	EFO	1	EFO	zebrafish component	tangential nucleus
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000693	"" []	581858	\N	\N	EFO	2	EFO	animal component	tangential nucleus
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000693	"" []	1165905	\N	\N	EFO	3	EFO	anatomy basic component	tangential nucleus
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000693	"" []	2049828	\N	\N	EFO	4	EFO	organism part	tangential nucleus
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000693	"" []	3199804	\N	\N	EFO	5	EFO	material entity	tangential nucleus
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000693	"" []	4404884	\N	\N	EFO	6	EFO	experimental factor	tangential nucleus
UBERON:2000711	\N	\N	"A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast." []	UBERON:2000711	"A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast." []	80225	\N	\N	EFO	0	EFO	DEL cells	DEL cells
EFO:0000795	UBERON:2000711	\N	"Embryonic structure (body structure)" []	UBERON:2000711	"A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast." []	224946	\N	\N	EFO	1	EFO	animal developmental tissue	DEL cells
EFO:0000787	EFO:0000795	\N	"" []	UBERON:2000711	"A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast." []	581859	\N	\N	EFO	2	EFO	animal component	DEL cells
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000711	"A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast." []	1165906	\N	\N	EFO	3	EFO	anatomy basic component	DEL cells
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000711	"A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast." []	2049829	\N	\N	EFO	4	EFO	organism part	DEL cells
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000711	"A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast." []	3199805	\N	\N	EFO	5	EFO	material entity	DEL cells
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000711	"A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast." []	4404885	\N	\N	EFO	6	EFO	experimental factor	DEL cells
UBERON:2000712	\N	\N	"The portion of the YSL that lies deep to the blastoderm during epiboly." []	UBERON:2000712	"The portion of the YSL that lies deep to the blastoderm during epiboly." []	80226	\N	\N	EFO	0	EFO	I-YSL	I-YSL
EFO:0003331	UBERON:2000712	\N	"" []	UBERON:2000712	"The portion of the YSL that lies deep to the blastoderm during epiboly." []	224947	\N	\N	EFO	1	EFO	zebrafish component	I-YSL
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000712	"The portion of the YSL that lies deep to the blastoderm during epiboly." []	581860	\N	\N	EFO	2	EFO	animal component	I-YSL
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000712	"The portion of the YSL that lies deep to the blastoderm during epiboly." []	1165907	\N	\N	EFO	3	EFO	anatomy basic component	I-YSL
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000712	"The portion of the YSL that lies deep to the blastoderm during epiboly." []	2049830	\N	\N	EFO	4	EFO	organism part	I-YSL
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000712	"The portion of the YSL that lies deep to the blastoderm during epiboly." []	3199806	\N	\N	EFO	5	EFO	material entity	I-YSL
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000712	"The portion of the YSL that lies deep to the blastoderm during epiboly." []	4404886	\N	\N	EFO	6	EFO	experimental factor	I-YSL
UBERON:2000726	\N	\N	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	UBERON:2000726	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	80227	\N	\N	EFO	0	EFO	somite 14	somite 14
EFO:0003331	UBERON:2000726	\N	"" []	UBERON:2000726	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	224948	\N	\N	EFO	1	EFO	zebrafish component	somite 14
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000726	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	581861	\N	\N	EFO	2	EFO	animal component	somite 14
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000726	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	1165908	\N	\N	EFO	3	EFO	anatomy basic component	somite 14
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000726	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	2049831	\N	\N	EFO	4	EFO	organism part	somite 14
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000726	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	3199807	\N	\N	EFO	5	EFO	material entity	somite 14
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000726	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	4404887	\N	\N	EFO	6	EFO	experimental factor	somite 14
UBERON:2000728	\N	\N	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	UBERON:2000728	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	80228	\N	\N	EFO	0	EFO	somite 2	somite 2
EFO:0003331	UBERON:2000728	\N	"" []	UBERON:2000728	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	224949	\N	\N	EFO	1	EFO	zebrafish component	somite 2
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000728	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	581862	\N	\N	EFO	2	EFO	animal component	somite 2
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000728	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	1165909	\N	\N	EFO	3	EFO	anatomy basic component	somite 2
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000728	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	2049832	\N	\N	EFO	4	EFO	organism part	somite 2
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000728	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	3199808	\N	\N	EFO	5	EFO	material entity	somite 2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000728	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	4404888	\N	\N	EFO	6	EFO	experimental factor	somite 2
UBERON:2000732	\N	\N	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	UBERON:2000732	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	80229	\N	\N	EFO	0	EFO	somite 3	somite 3
EFO:0003331	UBERON:2000732	\N	"" []	UBERON:2000732	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	224950	\N	\N	EFO	1	EFO	zebrafish component	somite 3
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000732	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	581863	\N	\N	EFO	2	EFO	animal component	somite 3
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000732	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	1165910	\N	\N	EFO	3	EFO	anatomy basic component	somite 3
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000732	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	2049833	\N	\N	EFO	4	EFO	organism part	somite 3
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000732	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	3199809	\N	\N	EFO	5	EFO	material entity	somite 3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000732	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	4404889	\N	\N	EFO	6	EFO	experimental factor	somite 3
UBERON:2000813	\N	\N	"Neuromast that is part of the infraorbital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	UBERON:2000813	"Neuromast that is part of the infraorbital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	80230	\N	\N	EFO	0	EFO	infraorbital lateral line neuromast	infraorbital lateral line neuromast
EFO:0003331	UBERON:2000813	\N	"" []	UBERON:2000813	"Neuromast that is part of the infraorbital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	224951	\N	\N	EFO	1	EFO	zebrafish component	infraorbital lateral line neuromast
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000813	"Neuromast that is part of the infraorbital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	581864	\N	\N	EFO	2	EFO	animal component	infraorbital lateral line neuromast
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000813	"Neuromast that is part of the infraorbital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	1165911	\N	\N	EFO	3	EFO	anatomy basic component	infraorbital lateral line neuromast
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000813	"Neuromast that is part of the infraorbital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	2049834	\N	\N	EFO	4	EFO	organism part	infraorbital lateral line neuromast
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000813	"Neuromast that is part of the infraorbital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	3199810	\N	\N	EFO	5	EFO	material entity	infraorbital lateral line neuromast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000813	"Neuromast that is part of the infraorbital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	4404890	\N	\N	EFO	6	EFO	experimental factor	infraorbital lateral line neuromast
UBERON:2000814	\N	\N	"Neuromast that is part of the opercular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	UBERON:2000814	"Neuromast that is part of the opercular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	80231	\N	\N	EFO	0	EFO	opercular lateral line neuromast	opercular lateral line neuromast
EFO:0003331	UBERON:2000814	\N	"" []	UBERON:2000814	"Neuromast that is part of the opercular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	224952	\N	\N	EFO	1	EFO	zebrafish component	opercular lateral line neuromast
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000814	"Neuromast that is part of the opercular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	581865	\N	\N	EFO	2	EFO	animal component	opercular lateral line neuromast
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000814	"Neuromast that is part of the opercular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	1165912	\N	\N	EFO	3	EFO	anatomy basic component	opercular lateral line neuromast
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000814	"Neuromast that is part of the opercular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	2049835	\N	\N	EFO	4	EFO	organism part	opercular lateral line neuromast
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000814	"Neuromast that is part of the opercular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	3199811	\N	\N	EFO	5	EFO	material entity	opercular lateral line neuromast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000814	"Neuromast that is part of the opercular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	4404891	\N	\N	EFO	6	EFO	experimental factor	opercular lateral line neuromast
UBERON:2000851	\N	\N	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	UBERON:2000851	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	80233	\N	\N	EFO	0	EFO	somite 12	somite 12
EFO:0003331	UBERON:2000851	\N	"" []	UBERON:2000851	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	224953	\N	\N	EFO	1	EFO	zebrafish component	somite 12
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000851	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	581866	\N	\N	EFO	2	EFO	animal component	somite 12
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000851	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	1165913	\N	\N	EFO	3	EFO	anatomy basic component	somite 12
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000851	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	2049836	\N	\N	EFO	4	EFO	organism part	somite 12
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000851	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	3199812	\N	\N	EFO	5	EFO	material entity	somite 12
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000851	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	4404892	\N	\N	EFO	6	EFO	experimental factor	somite 12
UBERON:2000857	\N	\N	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	UBERON:2000857	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	80234	\N	\N	EFO	0	EFO	somite 4	somite 4
EFO:0003331	UBERON:2000857	\N	"" []	UBERON:2000857	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	224954	\N	\N	EFO	1	EFO	zebrafish component	somite 4
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000857	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	581867	\N	\N	EFO	2	EFO	animal component	somite 4
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000857	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	1165914	\N	\N	EFO	3	EFO	anatomy basic component	somite 4
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000857	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	2049837	\N	\N	EFO	4	EFO	organism part	somite 4
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000857	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	3199813	\N	\N	EFO	5	EFO	material entity	somite 4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000857	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	4404893	\N	\N	EFO	6	EFO	experimental factor	somite 4
UBERON:2000887	\N	\N	"Floor plate that is part of the neural rod." []	UBERON:2000887	"Floor plate that is part of the neural rod." []	80235	\N	\N	EFO	0	EFO	floor plate neural rod	floor plate neural rod
EFO:0003331	UBERON:2000887	\N	"" []	UBERON:2000887	"Floor plate that is part of the neural rod." []	224955	\N	\N	EFO	1	EFO	zebrafish component	floor plate neural rod
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000887	"Floor plate that is part of the neural rod." []	581868	\N	\N	EFO	2	EFO	animal component	floor plate neural rod
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000887	"Floor plate that is part of the neural rod." []	1165915	\N	\N	EFO	3	EFO	anatomy basic component	floor plate neural rod
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000887	"Floor plate that is part of the neural rod." []	2049838	\N	\N	EFO	4	EFO	organism part	floor plate neural rod
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000887	"Floor plate that is part of the neural rod." []	3199814	\N	\N	EFO	5	EFO	material entity	floor plate neural rod
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000887	"Floor plate that is part of the neural rod." []	4404894	\N	\N	EFO	6	EFO	experimental factor	floor plate neural rod
UBERON:2000940	\N	\N	"Neuromast that is part of the posterior lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	UBERON:2000940	"Neuromast that is part of the posterior lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	80237	\N	\N	EFO	0	EFO	posterior lateral line neuromast	posterior lateral line neuromast
EFO:0003331	UBERON:2000940	\N	"" []	UBERON:2000940	"Neuromast that is part of the posterior lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	224956	\N	\N	EFO	1	EFO	zebrafish component	posterior lateral line neuromast
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000940	"Neuromast that is part of the posterior lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	581869	\N	\N	EFO	2	EFO	animal component	posterior lateral line neuromast
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000940	"Neuromast that is part of the posterior lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	1165916	\N	\N	EFO	3	EFO	anatomy basic component	posterior lateral line neuromast
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000940	"Neuromast that is part of the posterior lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	2049839	\N	\N	EFO	4	EFO	organism part	posterior lateral line neuromast
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000940	"Neuromast that is part of the posterior lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	3199815	\N	\N	EFO	5	EFO	material entity	posterior lateral line neuromast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000940	"Neuromast that is part of the posterior lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" []	4404895	\N	\N	EFO	6	EFO	experimental factor	posterior lateral line neuromast
UBERON:2000975	\N	\N	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	UBERON:2000975	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	80238	\N	\N	EFO	0	EFO	somite 13	somite 13
EFO:0003331	UBERON:2000975	\N	"" []	UBERON:2000975	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	224957	\N	\N	EFO	1	EFO	zebrafish component	somite 13
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2000975	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	581870	\N	\N	EFO	2	EFO	animal component	somite 13
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2000975	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	1165917	\N	\N	EFO	3	EFO	anatomy basic component	somite 13
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2000975	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	2049840	\N	\N	EFO	4	EFO	organism part	somite 13
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2000975	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	3199816	\N	\N	EFO	5	EFO	material entity	somite 13
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2000975	"Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome." []	4404896	\N	\N	EFO	6	EFO	experimental factor	somite 13
UBERON:2001051	\N	\N	"" []	UBERON:2001051	"" []	80241	\N	\N	EFO	0	EFO	caudal division of the internal carotid artery	caudal division of the internal carotid artery
EFO:0003331	UBERON:2001051	\N	"" []	UBERON:2001051	"" []	224958	\N	\N	EFO	1	EFO	zebrafish component	caudal division of the internal carotid artery
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001051	"" []	581871	\N	\N	EFO	2	EFO	animal component	caudal division of the internal carotid artery
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001051	"" []	1165918	\N	\N	EFO	3	EFO	anatomy basic component	caudal division of the internal carotid artery
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001051	"" []	2049841	\N	\N	EFO	4	EFO	organism part	caudal division of the internal carotid artery
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001051	"" []	3199817	\N	\N	EFO	5	EFO	material entity	caudal division of the internal carotid artery
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001051	"" []	4404897	\N	\N	EFO	6	EFO	experimental factor	caudal division of the internal carotid artery
UBERON:2001053	\N	\N	"" []	UBERON:2001053	"" []	80242	\N	\N	EFO	0	EFO	primitive internal carotid artery	primitive internal carotid artery
EFO:0003331	UBERON:2001053	\N	"" []	UBERON:2001053	"" []	224959	\N	\N	EFO	1	EFO	zebrafish component	primitive internal carotid artery
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001053	"" []	581872	\N	\N	EFO	2	EFO	animal component	primitive internal carotid artery
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001053	"" []	1165919	\N	\N	EFO	3	EFO	anatomy basic component	primitive internal carotid artery
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001053	"" []	2049842	\N	\N	EFO	4	EFO	organism part	primitive internal carotid artery
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001053	"" []	3199818	\N	\N	EFO	5	EFO	material entity	primitive internal carotid artery
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001053	"" []	4404898	\N	\N	EFO	6	EFO	experimental factor	primitive internal carotid artery
UBERON:2001054	\N	\N	"Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is called the radix of the aorta." []	UBERON:2001054	"Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is called the radix of the aorta." []	80243	\N	\N	EFO	0	EFO	lateral dorsal aorta	lateral dorsal aorta
EFO:0003331	UBERON:2001054	\N	"" []	UBERON:2001054	"Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is called the radix of the aorta." []	224960	\N	\N	EFO	1	EFO	zebrafish component	lateral dorsal aorta
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001054	"Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is called the radix of the aorta." []	581873	\N	\N	EFO	2	EFO	animal component	lateral dorsal aorta
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001054	"Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is called the radix of the aorta." []	1165920	\N	\N	EFO	3	EFO	anatomy basic component	lateral dorsal aorta
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001054	"Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is called the radix of the aorta." []	2049843	\N	\N	EFO	4	EFO	organism part	lateral dorsal aorta
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001054	"Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is called the radix of the aorta." []	3199819	\N	\N	EFO	5	EFO	material entity	lateral dorsal aorta
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001054	"Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is called the radix of the aorta." []	4404899	\N	\N	EFO	6	EFO	experimental factor	lateral dorsal aorta
UBERON:2001059	\N	\N	"" []	UBERON:2001059	"" []	80244	\N	\N	EFO	0	EFO	cranial division of the internal carotid artery	cranial division of the internal carotid artery
EFO:0003331	UBERON:2001059	\N	"" []	UBERON:2001059	"" []	224961	\N	\N	EFO	1	EFO	zebrafish component	cranial division of the internal carotid artery
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001059	"" []	581874	\N	\N	EFO	2	EFO	animal component	cranial division of the internal carotid artery
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001059	"" []	1165921	\N	\N	EFO	3	EFO	anatomy basic component	cranial division of the internal carotid artery
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001059	"" []	2049844	\N	\N	EFO	4	EFO	organism part	cranial division of the internal carotid artery
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001059	"" []	3199820	\N	\N	EFO	5	EFO	material entity	cranial division of the internal carotid artery
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001059	"" []	4404900	\N	\N	EFO	6	EFO	experimental factor	cranial division of the internal carotid artery
UBERON:2001063	\N	\N	"" []	UBERON:2001063	"" []	80246	\N	\N	EFO	0	EFO	posterior caudal vein	posterior caudal vein
EFO:0003331	UBERON:2001063	\N	"" []	UBERON:2001063	"" []	224962	\N	\N	EFO	1	EFO	zebrafish component	posterior caudal vein
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001063	"" []	581875	\N	\N	EFO	2	EFO	animal component	posterior caudal vein
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001063	"" []	1165922	\N	\N	EFO	3	EFO	anatomy basic component	posterior caudal vein
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001063	"" []	2049845	\N	\N	EFO	4	EFO	organism part	posterior caudal vein
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001063	"" []	3199821	\N	\N	EFO	5	EFO	material entity	posterior caudal vein
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001063	"" []	4404901	\N	\N	EFO	6	EFO	experimental factor	posterior caudal vein
UBERON:2001073	\N	\N	"" []	UBERON:2001073	"" []	80247	\N	\N	EFO	0	EFO	axial vasculature	axial vasculature
EFO:0003331	UBERON:2001073	\N	"" []	UBERON:2001073	"" []	224963	\N	\N	EFO	1	EFO	zebrafish component	axial vasculature
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001073	"" []	581876	\N	\N	EFO	2	EFO	animal component	axial vasculature
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001073	"" []	1165923	\N	\N	EFO	3	EFO	anatomy basic component	axial vasculature
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001073	"" []	2049846	\N	\N	EFO	4	EFO	organism part	axial vasculature
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001073	"" []	3199822	\N	\N	EFO	5	EFO	material entity	axial vasculature
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001073	"" []	4404902	\N	\N	EFO	6	EFO	experimental factor	axial vasculature
UBERON:2001076	\N	\N	"This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area." []	UBERON:2001076	"This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area." []	80248	\N	\N	EFO	0	EFO	intestinal bulb	intestinal bulb
EFO:0003331	UBERON:2001076	\N	"" []	UBERON:2001076	"This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area." []	224964	\N	\N	EFO	1	EFO	zebrafish component	intestinal bulb
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001076	"This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area." []	581877	\N	\N	EFO	2	EFO	animal component	intestinal bulb
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001076	"This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area." []	1165924	\N	\N	EFO	3	EFO	anatomy basic component	intestinal bulb
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001076	"This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area." []	2049847	\N	\N	EFO	4	EFO	organism part	intestinal bulb
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001076	"This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area." []	3199823	\N	\N	EFO	5	EFO	material entity	intestinal bulb
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001076	"This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area." []	4404903	\N	\N	EFO	6	EFO	experimental factor	intestinal bulb
UBERON:2001089	\N	\N	"" []	UBERON:2001089	"" []	80249	\N	\N	EFO	0	EFO	myoseptum	myoseptum
EFO:0003331	UBERON:2001089	\N	"" []	UBERON:2001089	"" []	224965	\N	\N	EFO	1	EFO	zebrafish component	myoseptum
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001089	"" []	581878	\N	\N	EFO	2	EFO	animal component	myoseptum
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001089	"" []	1165925	\N	\N	EFO	3	EFO	anatomy basic component	myoseptum
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001089	"" []	2049848	\N	\N	EFO	4	EFO	organism part	myoseptum
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001089	"" []	3199824	\N	\N	EFO	5	EFO	material entity	myoseptum
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001089	"" []	4404904	\N	\N	EFO	6	EFO	experimental factor	myoseptum
UBERON:2001118	\N	\N	"A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed." []	UBERON:2001118	"A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed." []	80250	\N	\N	EFO	0	EFO	urogenital papilla	urogenital papilla
EFO:0003331	UBERON:2001118	\N	"" []	UBERON:2001118	"A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed." []	224966	\N	\N	EFO	1	EFO	zebrafish component	urogenital papilla
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001118	"A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed." []	581879	\N	\N	EFO	2	EFO	animal component	urogenital papilla
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001118	"A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed." []	1165926	\N	\N	EFO	3	EFO	anatomy basic component	urogenital papilla
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001118	"A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed." []	2049849	\N	\N	EFO	4	EFO	organism part	urogenital papilla
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001118	"A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed." []	3199825	\N	\N	EFO	5	EFO	material entity	urogenital papilla
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001118	"A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed." []	4404905	\N	\N	EFO	6	EFO	experimental factor	urogenital papilla
UBERON:2001129	\N	\N	"" []	UBERON:2001129	"" []	80251	\N	\N	EFO	0	EFO	pharyngeal pouches 2-6	pharyngeal pouches 2-6
EFO:0003331	UBERON:2001129	\N	"" []	UBERON:2001129	"" []	224967	\N	\N	EFO	1	EFO	zebrafish component	pharyngeal pouches 2-6
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001129	"" []	581880	\N	\N	EFO	2	EFO	animal component	pharyngeal pouches 2-6
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001129	"" []	1165927	\N	\N	EFO	3	EFO	anatomy basic component	pharyngeal pouches 2-6
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001129	"" []	2049850	\N	\N	EFO	4	EFO	organism part	pharyngeal pouches 2-6
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001129	"" []	3199826	\N	\N	EFO	5	EFO	material entity	pharyngeal pouches 2-6
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001129	"" []	4404906	\N	\N	EFO	6	EFO	experimental factor	pharyngeal pouches 2-6
UBERON:2001142	\N	\N	"Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row." []	UBERON:2001142	"Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row." []	80252	\N	\N	EFO	0	EFO	tooth 5V	tooth 5V
EFO:0003331	UBERON:2001142	\N	"" []	UBERON:2001142	"Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row." []	224968	\N	\N	EFO	1	EFO	zebrafish component	tooth 5V
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001142	"Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row." []	581881	\N	\N	EFO	2	EFO	animal component	tooth 5V
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001142	"Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row." []	1165928	\N	\N	EFO	3	EFO	anatomy basic component	tooth 5V
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001142	"Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row." []	2049851	\N	\N	EFO	4	EFO	organism part	tooth 5V
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001142	"Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row." []	3199827	\N	\N	EFO	5	EFO	material entity	tooth 5V
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001142	"Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row." []	4404907	\N	\N	EFO	6	EFO	experimental factor	tooth 5V
UBERON:2001143	\N	\N	"Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row." []	UBERON:2001143	"Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row." []	80253	\N	\N	EFO	0	EFO	tooth 4V	tooth 4V
EFO:0003331	UBERON:2001143	\N	"" []	UBERON:2001143	"Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row." []	224969	\N	\N	EFO	1	EFO	zebrafish component	tooth 4V
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001143	"Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row." []	581882	\N	\N	EFO	2	EFO	animal component	tooth 4V
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001143	"Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row." []	1165929	\N	\N	EFO	3	EFO	anatomy basic component	tooth 4V
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001143	"Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row." []	2049852	\N	\N	EFO	4	EFO	organism part	tooth 4V
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001143	"Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row." []	3199828	\N	\N	EFO	5	EFO	material entity	tooth 4V
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001143	"Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row." []	4404908	\N	\N	EFO	6	EFO	experimental factor	tooth 4V
UBERON:2001145	\N	\N	"Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row." []	UBERON:2001145	"Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row." []	80254	\N	\N	EFO	0	EFO	tooth 3V	tooth 3V
EFO:0003331	UBERON:2001145	\N	"" []	UBERON:2001145	"Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row." []	224970	\N	\N	EFO	1	EFO	zebrafish component	tooth 3V
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001145	"Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row." []	581883	\N	\N	EFO	2	EFO	animal component	tooth 3V
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001145	"Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row." []	1165930	\N	\N	EFO	3	EFO	anatomy basic component	tooth 3V
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001145	"Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row." []	2049853	\N	\N	EFO	4	EFO	organism part	tooth 3V
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001145	"Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row." []	3199829	\N	\N	EFO	5	EFO	material entity	tooth 3V
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001145	"Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row." []	4404909	\N	\N	EFO	6	EFO	experimental factor	tooth 3V
UBERON:2001156	\N	\N	"" []	UBERON:2001156	"" []	80255	\N	\N	EFO	0	EFO	posterior lateral line placode	posterior lateral line placode
EFO:0003332	UBERON:2001156	\N	"" []	UBERON:2001156	"" []	224971	\N	\N	EFO	1	EFO	zebrafish embryonic structure	posterior lateral line placode
EFO:0003331	EFO:0003332	\N	"" []	UBERON:2001156	"" []	581884	\N	\N	EFO	2	EFO	zebrafish component	posterior lateral line placode
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001156	"" []	1165931	\N	\N	EFO	3	EFO	animal component	posterior lateral line placode
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001156	"" []	2049854	\N	\N	EFO	4	EFO	anatomy basic component	posterior lateral line placode
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001156	"" []	3199830	\N	\N	EFO	5	EFO	organism part	posterior lateral line placode
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001156	"" []	4404910	\N	\N	EFO	6	EFO	material entity	posterior lateral line placode
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001156	"" []	5420282	\N	\N	EFO	7	EFO	experimental factor	posterior lateral line placode
UBERON:2001157	\N	\N	"A migrating group of cells originating from the posterior lateral line placode.  The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail." []	UBERON:2001157	"A migrating group of cells originating from the posterior lateral line placode.  The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail." []	80256	\N	\N	EFO	0	EFO	posterior lateral line primordium	posterior lateral line primordium
EFO:0003331	UBERON:2001157	\N	"" []	UBERON:2001157	"A migrating group of cells originating from the posterior lateral line placode.  The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail." []	224972	\N	\N	EFO	1	EFO	zebrafish component	posterior lateral line primordium
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001157	"A migrating group of cells originating from the posterior lateral line placode.  The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail." []	581885	\N	\N	EFO	2	EFO	animal component	posterior lateral line primordium
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001157	"A migrating group of cells originating from the posterior lateral line placode.  The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail." []	1165932	\N	\N	EFO	3	EFO	anatomy basic component	posterior lateral line primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001157	"A migrating group of cells originating from the posterior lateral line placode.  The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail." []	2049855	\N	\N	EFO	4	EFO	organism part	posterior lateral line primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001157	"A migrating group of cells originating from the posterior lateral line placode.  The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail." []	3199831	\N	\N	EFO	5	EFO	material entity	posterior lateral line primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001157	"A migrating group of cells originating from the posterior lateral line placode.  The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail." []	4404911	\N	\N	EFO	6	EFO	experimental factor	posterior lateral line primordium
UBERON:2001200	\N	\N	"Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism." []	UBERON:2001200	"Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism." []	80257	\N	\N	EFO	0	EFO	corpuscles of Stannius	corpuscles of Stannius
EFO:0003331	UBERON:2001200	\N	"" []	UBERON:2001200	"Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism." []	224973	\N	\N	EFO	1	EFO	zebrafish component	corpuscles of Stannius
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001200	"Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism." []	581886	\N	\N	EFO	2	EFO	animal component	corpuscles of Stannius
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001200	"Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism." []	1165933	\N	\N	EFO	3	EFO	anatomy basic component	corpuscles of Stannius
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001200	"Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism." []	2049856	\N	\N	EFO	4	EFO	organism part	corpuscles of Stannius
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001200	"Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism." []	3199832	\N	\N	EFO	5	EFO	material entity	corpuscles of Stannius
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001200	"Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism." []	4404912	\N	\N	EFO	6	EFO	experimental factor	corpuscles of Stannius
UBERON:2001256	\N	\N	"Portion of tissue that is the lateral part of the floor plate." []	UBERON:2001256	"Portion of tissue that is the lateral part of the floor plate." []	80258	\N	\N	EFO	0	EFO	lateral floor plate	lateral floor plate
EFO:0003331	UBERON:2001256	\N	"" []	UBERON:2001256	"Portion of tissue that is the lateral part of the floor plate." []	224974	\N	\N	EFO	1	EFO	zebrafish component	lateral floor plate
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001256	"Portion of tissue that is the lateral part of the floor plate." []	581887	\N	\N	EFO	2	EFO	animal component	lateral floor plate
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001256	"Portion of tissue that is the lateral part of the floor plate." []	1165934	\N	\N	EFO	3	EFO	anatomy basic component	lateral floor plate
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001256	"Portion of tissue that is the lateral part of the floor plate." []	2049857	\N	\N	EFO	4	EFO	organism part	lateral floor plate
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001256	"Portion of tissue that is the lateral part of the floor plate." []	3199833	\N	\N	EFO	5	EFO	material entity	lateral floor plate
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001256	"Portion of tissue that is the lateral part of the floor plate." []	4404913	\N	\N	EFO	6	EFO	experimental factor	lateral floor plate
UBERON:2001263	\N	\N	"Stage I follicles (less than 140 microns) are primary growth stage." []	UBERON:2001263	"Stage I follicles (less than 140 microns) are primary growth stage." []	80259	\N	\N	EFO	0	EFO	ovarian follicle stage I	ovarian follicle stage I
EFO:0003331	UBERON:2001263	\N	"" []	UBERON:2001263	"Stage I follicles (less than 140 microns) are primary growth stage." []	224975	\N	\N	EFO	1	EFO	zebrafish component	ovarian follicle stage I
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001263	"Stage I follicles (less than 140 microns) are primary growth stage." []	581888	\N	\N	EFO	2	EFO	animal component	ovarian follicle stage I
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001263	"Stage I follicles (less than 140 microns) are primary growth stage." []	1165935	\N	\N	EFO	3	EFO	anatomy basic component	ovarian follicle stage I
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001263	"Stage I follicles (less than 140 microns) are primary growth stage." []	2049858	\N	\N	EFO	4	EFO	organism part	ovarian follicle stage I
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001263	"Stage I follicles (less than 140 microns) are primary growth stage." []	3199834	\N	\N	EFO	5	EFO	material entity	ovarian follicle stage I
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001263	"Stage I follicles (less than 140 microns) are primary growth stage." []	4404914	\N	\N	EFO	6	EFO	experimental factor	ovarian follicle stage I
UBERON:2001265	\N	\N	"Stage II follicles (140-340 microns) are cortical alveolus stage." []	UBERON:2001265	"Stage II follicles (140-340 microns) are cortical alveolus stage." []	80260	\N	\N	EFO	0	EFO	ovarian follicle stage II	ovarian follicle stage II
EFO:0003331	UBERON:2001265	\N	"" []	UBERON:2001265	"Stage II follicles (140-340 microns) are cortical alveolus stage." []	224976	\N	\N	EFO	1	EFO	zebrafish component	ovarian follicle stage II
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001265	"Stage II follicles (140-340 microns) are cortical alveolus stage." []	581889	\N	\N	EFO	2	EFO	animal component	ovarian follicle stage II
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001265	"Stage II follicles (140-340 microns) are cortical alveolus stage." []	1165936	\N	\N	EFO	3	EFO	anatomy basic component	ovarian follicle stage II
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001265	"Stage II follicles (140-340 microns) are cortical alveolus stage." []	2049859	\N	\N	EFO	4	EFO	organism part	ovarian follicle stage II
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001265	"Stage II follicles (140-340 microns) are cortical alveolus stage." []	3199835	\N	\N	EFO	5	EFO	material entity	ovarian follicle stage II
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001265	"Stage II follicles (140-340 microns) are cortical alveolus stage." []	4404915	\N	\N	EFO	6	EFO	experimental factor	ovarian follicle stage II
UBERON:2001266	\N	\N	"Stage III (340-690 microns) are vitellogenesis." []	UBERON:2001266	"Stage III (340-690 microns) are vitellogenesis." []	80261	\N	\N	EFO	0	EFO	ovarian follicle stage III	ovarian follicle stage III
EFO:0003331	UBERON:2001266	\N	"" []	UBERON:2001266	"Stage III (340-690 microns) are vitellogenesis." []	224977	\N	\N	EFO	1	EFO	zebrafish component	ovarian follicle stage III
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001266	"Stage III (340-690 microns) are vitellogenesis." []	581890	\N	\N	EFO	2	EFO	animal component	ovarian follicle stage III
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001266	"Stage III (340-690 microns) are vitellogenesis." []	1165937	\N	\N	EFO	3	EFO	anatomy basic component	ovarian follicle stage III
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001266	"Stage III (340-690 microns) are vitellogenesis." []	2049860	\N	\N	EFO	4	EFO	organism part	ovarian follicle stage III
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001266	"Stage III (340-690 microns) are vitellogenesis." []	3199836	\N	\N	EFO	5	EFO	material entity	ovarian follicle stage III
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001266	"Stage III (340-690 microns) are vitellogenesis." []	4404916	\N	\N	EFO	6	EFO	experimental factor	ovarian follicle stage III
UBERON:2001279	\N	\N	"Branchiostegal ray that is the most anterior ray which ossifies last (5.5 mm NL)." []	UBERON:2001279	"Branchiostegal ray that is the most anterior ray which ossifies last (5.5 mm NL)." []	80262	\N	\N	EFO	0	EFO	branchiostegal ray 1	branchiostegal ray 1
EFO:0003331	UBERON:2001279	\N	"" []	UBERON:2001279	"Branchiostegal ray that is the most anterior ray which ossifies last (5.5 mm NL)." []	224978	\N	\N	EFO	1	EFO	zebrafish component	branchiostegal ray 1
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001279	"Branchiostegal ray that is the most anterior ray which ossifies last (5.5 mm NL)." []	581891	\N	\N	EFO	2	EFO	animal component	branchiostegal ray 1
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001279	"Branchiostegal ray that is the most anterior ray which ossifies last (5.5 mm NL)." []	1165938	\N	\N	EFO	3	EFO	anatomy basic component	branchiostegal ray 1
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001279	"Branchiostegal ray that is the most anterior ray which ossifies last (5.5 mm NL)." []	2049861	\N	\N	EFO	4	EFO	organism part	branchiostegal ray 1
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001279	"Branchiostegal ray that is the most anterior ray which ossifies last (5.5 mm NL)." []	3199837	\N	\N	EFO	5	EFO	material entity	branchiostegal ray 1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001279	"Branchiostegal ray that is the most anterior ray which ossifies last (5.5 mm NL)." []	4404917	\N	\N	EFO	6	EFO	experimental factor	branchiostegal ray 1
UBERON:2001280	\N	\N	"Branchiostegal ray that is the most posterior ray which ossifies first (3.4 mm NL)." []	UBERON:2001280	"Branchiostegal ray that is the most posterior ray which ossifies first (3.4 mm NL)." []	80263	\N	\N	EFO	0	EFO	branchiostegal ray 3	branchiostegal ray 3
EFO:0003331	UBERON:2001280	\N	"" []	UBERON:2001280	"Branchiostegal ray that is the most posterior ray which ossifies first (3.4 mm NL)." []	224979	\N	\N	EFO	1	EFO	zebrafish component	branchiostegal ray 3
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001280	"Branchiostegal ray that is the most posterior ray which ossifies first (3.4 mm NL)." []	581892	\N	\N	EFO	2	EFO	animal component	branchiostegal ray 3
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001280	"Branchiostegal ray that is the most posterior ray which ossifies first (3.4 mm NL)." []	1165939	\N	\N	EFO	3	EFO	anatomy basic component	branchiostegal ray 3
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001280	"Branchiostegal ray that is the most posterior ray which ossifies first (3.4 mm NL)." []	2049862	\N	\N	EFO	4	EFO	organism part	branchiostegal ray 3
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001280	"Branchiostegal ray that is the most posterior ray which ossifies first (3.4 mm NL)." []	3199838	\N	\N	EFO	5	EFO	material entity	branchiostegal ray 3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001280	"Branchiostegal ray that is the most posterior ray which ossifies first (3.4 mm NL)." []	4404918	\N	\N	EFO	6	EFO	experimental factor	branchiostegal ray 3
UBERON:2001281	\N	\N	"Branchiostegal ray 2 is between rays 1 and 3 and ossifies second." []	UBERON:2001281	"Branchiostegal ray 2 is between rays 1 and 3 and ossifies second." []	80264	\N	\N	EFO	0	EFO	branchiostegal ray 2	branchiostegal ray 2
EFO:0003331	UBERON:2001281	\N	"" []	UBERON:2001281	"Branchiostegal ray 2 is between rays 1 and 3 and ossifies second." []	224980	\N	\N	EFO	1	EFO	zebrafish component	branchiostegal ray 2
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001281	"Branchiostegal ray 2 is between rays 1 and 3 and ossifies second." []	581893	\N	\N	EFO	2	EFO	animal component	branchiostegal ray 2
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001281	"Branchiostegal ray 2 is between rays 1 and 3 and ossifies second." []	1165940	\N	\N	EFO	3	EFO	anatomy basic component	branchiostegal ray 2
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001281	"Branchiostegal ray 2 is between rays 1 and 3 and ossifies second." []	2049863	\N	\N	EFO	4	EFO	organism part	branchiostegal ray 2
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001281	"Branchiostegal ray 2 is between rays 1 and 3 and ossifies second." []	3199839	\N	\N	EFO	5	EFO	material entity	branchiostegal ray 2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001281	"Branchiostegal ray 2 is between rays 1 and 3 and ossifies second." []	4404919	\N	\N	EFO	6	EFO	experimental factor	branchiostegal ray 2
UBERON:2001286	\N	\N	"" []	UBERON:2001286	"" []	80265	\N	\N	EFO	0	EFO	caudal vein plexus	caudal vein plexus
EFO:0003331	UBERON:2001286	\N	"" []	UBERON:2001286	"" []	224981	\N	\N	EFO	1	EFO	zebrafish component	caudal vein plexus
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001286	"" []	581894	\N	\N	EFO	2	EFO	animal component	caudal vein plexus
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001286	"" []	1165941	\N	\N	EFO	3	EFO	anatomy basic component	caudal vein plexus
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001286	"" []	2049864	\N	\N	EFO	4	EFO	organism part	caudal vein plexus
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001286	"" []	3199840	\N	\N	EFO	5	EFO	material entity	caudal vein plexus
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001286	"" []	4404920	\N	\N	EFO	6	EFO	experimental factor	caudal vein plexus
UBERON:2001297	\N	\N	"Epibranchial placode that gives rise to vagal ganglion 1." []	UBERON:2001297	"Epibranchial placode that gives rise to vagal ganglion 1." []	80266	\N	\N	EFO	0	EFO	vagal placode 1	vagal placode 1
EFO:0003332	UBERON:2001297	\N	"" []	UBERON:2001297	"Epibranchial placode that gives rise to vagal ganglion 1." []	224982	\N	\N	EFO	1	EFO	zebrafish embryonic structure	vagal placode 1
EFO:0003331	EFO:0003332	\N	"" []	UBERON:2001297	"Epibranchial placode that gives rise to vagal ganglion 1." []	581895	\N	\N	EFO	2	EFO	zebrafish component	vagal placode 1
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001297	"Epibranchial placode that gives rise to vagal ganglion 1." []	1165942	\N	\N	EFO	3	EFO	animal component	vagal placode 1
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001297	"Epibranchial placode that gives rise to vagal ganglion 1." []	2049865	\N	\N	EFO	4	EFO	anatomy basic component	vagal placode 1
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001297	"Epibranchial placode that gives rise to vagal ganglion 1." []	3199841	\N	\N	EFO	5	EFO	organism part	vagal placode 1
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001297	"Epibranchial placode that gives rise to vagal ganglion 1." []	4404921	\N	\N	EFO	6	EFO	material entity	vagal placode 1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001297	"Epibranchial placode that gives rise to vagal ganglion 1." []	5420283	\N	\N	EFO	7	EFO	experimental factor	vagal placode 1
UBERON:2001298	\N	\N	"Epibranchial placode that gives rise to vagal ganglion 2." []	UBERON:2001298	"Epibranchial placode that gives rise to vagal ganglion 2." []	80267	\N	\N	EFO	0	EFO	vagal placode 2	vagal placode 2
EFO:0003332	UBERON:2001298	\N	"" []	UBERON:2001298	"Epibranchial placode that gives rise to vagal ganglion 2." []	224983	\N	\N	EFO	1	EFO	zebrafish embryonic structure	vagal placode 2
EFO:0003331	EFO:0003332	\N	"" []	UBERON:2001298	"Epibranchial placode that gives rise to vagal ganglion 2." []	581896	\N	\N	EFO	2	EFO	zebrafish component	vagal placode 2
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001298	"Epibranchial placode that gives rise to vagal ganglion 2." []	1165943	\N	\N	EFO	3	EFO	animal component	vagal placode 2
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001298	"Epibranchial placode that gives rise to vagal ganglion 2." []	2049866	\N	\N	EFO	4	EFO	anatomy basic component	vagal placode 2
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001298	"Epibranchial placode that gives rise to vagal ganglion 2." []	3199842	\N	\N	EFO	5	EFO	organism part	vagal placode 2
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001298	"Epibranchial placode that gives rise to vagal ganglion 2." []	4404922	\N	\N	EFO	6	EFO	material entity	vagal placode 2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001298	"Epibranchial placode that gives rise to vagal ganglion 2." []	5420284	\N	\N	EFO	7	EFO	experimental factor	vagal placode 2
UBERON:2001299	\N	\N	"Epibranchial placode that gives rise to vagal ganglion 3." []	UBERON:2001299	"Epibranchial placode that gives rise to vagal ganglion 3." []	80268	\N	\N	EFO	0	EFO	vagal placode 3	vagal placode 3
EFO:0003332	UBERON:2001299	\N	"" []	UBERON:2001299	"Epibranchial placode that gives rise to vagal ganglion 3." []	224984	\N	\N	EFO	1	EFO	zebrafish embryonic structure	vagal placode 3
EFO:0003331	EFO:0003332	\N	"" []	UBERON:2001299	"Epibranchial placode that gives rise to vagal ganglion 3." []	581897	\N	\N	EFO	2	EFO	zebrafish component	vagal placode 3
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001299	"Epibranchial placode that gives rise to vagal ganglion 3." []	1165944	\N	\N	EFO	3	EFO	animal component	vagal placode 3
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001299	"Epibranchial placode that gives rise to vagal ganglion 3." []	2049867	\N	\N	EFO	4	EFO	anatomy basic component	vagal placode 3
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001299	"Epibranchial placode that gives rise to vagal ganglion 3." []	3199843	\N	\N	EFO	5	EFO	organism part	vagal placode 3
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001299	"Epibranchial placode that gives rise to vagal ganglion 3." []	4404923	\N	\N	EFO	6	EFO	material entity	vagal placode 3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001299	"Epibranchial placode that gives rise to vagal ganglion 3." []	5420285	\N	\N	EFO	7	EFO	experimental factor	vagal placode 3
UBERON:2001300	\N	\N	"Epibranchial placode that gives rise to vagal ganglion 4." []	UBERON:2001300	"Epibranchial placode that gives rise to vagal ganglion 4." []	80269	\N	\N	EFO	0	EFO	vagal placode 4	vagal placode 4
EFO:0003332	UBERON:2001300	\N	"" []	UBERON:2001300	"Epibranchial placode that gives rise to vagal ganglion 4." []	224985	\N	\N	EFO	1	EFO	zebrafish embryonic structure	vagal placode 4
EFO:0003331	EFO:0003332	\N	"" []	UBERON:2001300	"Epibranchial placode that gives rise to vagal ganglion 4." []	581898	\N	\N	EFO	2	EFO	zebrafish component	vagal placode 4
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001300	"Epibranchial placode that gives rise to vagal ganglion 4." []	1165945	\N	\N	EFO	3	EFO	animal component	vagal placode 4
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001300	"Epibranchial placode that gives rise to vagal ganglion 4." []	2049868	\N	\N	EFO	4	EFO	anatomy basic component	vagal placode 4
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001300	"Epibranchial placode that gives rise to vagal ganglion 4." []	3199844	\N	\N	EFO	5	EFO	organism part	vagal placode 4
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001300	"Epibranchial placode that gives rise to vagal ganglion 4." []	4404924	\N	\N	EFO	6	EFO	material entity	vagal placode 4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001300	"Epibranchial placode that gives rise to vagal ganglion 4." []	5420286	\N	\N	EFO	7	EFO	experimental factor	vagal placode 4
UBERON:2001302	\N	\N	"" []	UBERON:2001302	"" []	80270	\N	\N	EFO	0	EFO	vagal ganglion 1	vagal ganglion 1
EFO:0003331	UBERON:2001302	\N	"" []	UBERON:2001302	"" []	224986	\N	\N	EFO	1	EFO	zebrafish component	vagal ganglion 1
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001302	"" []	581899	\N	\N	EFO	2	EFO	animal component	vagal ganglion 1
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001302	"" []	1165946	\N	\N	EFO	3	EFO	anatomy basic component	vagal ganglion 1
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001302	"" []	2049869	\N	\N	EFO	4	EFO	organism part	vagal ganglion 1
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001302	"" []	3199845	\N	\N	EFO	5	EFO	material entity	vagal ganglion 1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001302	"" []	4404925	\N	\N	EFO	6	EFO	experimental factor	vagal ganglion 1
UBERON:2001303	\N	\N	"" []	UBERON:2001303	"" []	80271	\N	\N	EFO	0	EFO	vagal ganglion 2	vagal ganglion 2
EFO:0003331	UBERON:2001303	\N	"" []	UBERON:2001303	"" []	224987	\N	\N	EFO	1	EFO	zebrafish component	vagal ganglion 2
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001303	"" []	581900	\N	\N	EFO	2	EFO	animal component	vagal ganglion 2
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001303	"" []	1165947	\N	\N	EFO	3	EFO	anatomy basic component	vagal ganglion 2
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001303	"" []	2049870	\N	\N	EFO	4	EFO	organism part	vagal ganglion 2
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001303	"" []	3199846	\N	\N	EFO	5	EFO	material entity	vagal ganglion 2
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001303	"" []	4404926	\N	\N	EFO	6	EFO	experimental factor	vagal ganglion 2
UBERON:2001304	\N	\N	"" []	UBERON:2001304	"" []	80272	\N	\N	EFO	0	EFO	vagal ganglion 3	vagal ganglion 3
EFO:0003331	UBERON:2001304	\N	"" []	UBERON:2001304	"" []	224988	\N	\N	EFO	1	EFO	zebrafish component	vagal ganglion 3
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001304	"" []	581901	\N	\N	EFO	2	EFO	animal component	vagal ganglion 3
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001304	"" []	1165948	\N	\N	EFO	3	EFO	anatomy basic component	vagal ganglion 3
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001304	"" []	2049871	\N	\N	EFO	4	EFO	organism part	vagal ganglion 3
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001304	"" []	3199847	\N	\N	EFO	5	EFO	material entity	vagal ganglion 3
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001304	"" []	4404927	\N	\N	EFO	6	EFO	experimental factor	vagal ganglion 3
UBERON:2001305	\N	\N	"" []	UBERON:2001305	"" []	80273	\N	\N	EFO	0	EFO	vagal ganglion 4	vagal ganglion 4
EFO:0003331	UBERON:2001305	\N	"" []	UBERON:2001305	"" []	224989	\N	\N	EFO	1	EFO	zebrafish component	vagal ganglion 4
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001305	"" []	581902	\N	\N	EFO	2	EFO	animal component	vagal ganglion 4
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001305	"" []	1165949	\N	\N	EFO	3	EFO	anatomy basic component	vagal ganglion 4
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001305	"" []	2049872	\N	\N	EFO	4	EFO	organism part	vagal ganglion 4
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001305	"" []	3199848	\N	\N	EFO	5	EFO	material entity	vagal ganglion 4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001305	"" []	4404928	\N	\N	EFO	6	EFO	experimental factor	vagal ganglion 4
UBERON:2001313	\N	\N	"" []	UBERON:2001313	"" []	80275	\N	\N	EFO	0	EFO	ventral anterior lateral line ganglion	ventral anterior lateral line ganglion
EFO:0003331	UBERON:2001313	\N	"" []	UBERON:2001313	"" []	224990	\N	\N	EFO	1	EFO	zebrafish component	ventral anterior lateral line ganglion
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001313	"" []	581903	\N	\N	EFO	2	EFO	animal component	ventral anterior lateral line ganglion
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001313	"" []	1165950	\N	\N	EFO	3	EFO	anatomy basic component	ventral anterior lateral line ganglion
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001313	"" []	2049873	\N	\N	EFO	4	EFO	organism part	ventral anterior lateral line ganglion
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001313	"" []	3199849	\N	\N	EFO	5	EFO	material entity	ventral anterior lateral line ganglion
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001313	"" []	4404929	\N	\N	EFO	6	EFO	experimental factor	ventral anterior lateral line ganglion
UBERON:2001314	\N	\N	"The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system." []	UBERON:2001314	"The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system." []	80276	\N	\N	EFO	0	EFO	posterior lateral line ganglion	posterior lateral line ganglion
EFO:0003331	UBERON:2001314	\N	"" []	UBERON:2001314	"The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system." []	224991	\N	\N	EFO	1	EFO	zebrafish component	posterior lateral line ganglion
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001314	"The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system." []	581904	\N	\N	EFO	2	EFO	animal component	posterior lateral line ganglion
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001314	"The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system." []	1165951	\N	\N	EFO	3	EFO	anatomy basic component	posterior lateral line ganglion
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001314	"The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system." []	2049874	\N	\N	EFO	4	EFO	organism part	posterior lateral line ganglion
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001314	"The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system." []	3199850	\N	\N	EFO	5	EFO	material entity	posterior lateral line ganglion
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001314	"The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system." []	4404930	\N	\N	EFO	6	EFO	experimental factor	posterior lateral line ganglion
UBERON:2001316	\N	\N	"" []	UBERON:2001316	"" []	80277	\N	\N	EFO	0	EFO	anterior lateral line placode	anterior lateral line placode
EFO:0003332	UBERON:2001316	\N	"" []	UBERON:2001316	"" []	224992	\N	\N	EFO	1	EFO	zebrafish embryonic structure	anterior lateral line placode
EFO:0003331	EFO:0003332	\N	"" []	UBERON:2001316	"" []	581905	\N	\N	EFO	2	EFO	zebrafish component	anterior lateral line placode
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001316	"" []	1165952	\N	\N	EFO	3	EFO	animal component	anterior lateral line placode
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001316	"" []	2049875	\N	\N	EFO	4	EFO	anatomy basic component	anterior lateral line placode
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001316	"" []	3199851	\N	\N	EFO	5	EFO	organism part	anterior lateral line placode
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001316	"" []	4404931	\N	\N	EFO	6	EFO	material entity	anterior lateral line placode
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001316	"" []	5420287	\N	\N	EFO	7	EFO	experimental factor	anterior lateral line placode
UBERON:2001378	\N	\N	"" []	UBERON:2001378	"" []	80278	\N	\N	EFO	0	EFO	axial hypoblast	axial hypoblast
EFO:0003331	UBERON:2001378	\N	"" []	UBERON:2001378	"" []	224993	\N	\N	EFO	1	EFO	zebrafish component	axial hypoblast
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001378	"" []	581906	\N	\N	EFO	2	EFO	animal component	axial hypoblast
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001378	"" []	1165953	\N	\N	EFO	3	EFO	anatomy basic component	axial hypoblast
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001378	"" []	2049876	\N	\N	EFO	4	EFO	organism part	axial hypoblast
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001378	"" []	3199852	\N	\N	EFO	5	EFO	material entity	axial hypoblast
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001378	"" []	4404932	\N	\N	EFO	6	EFO	experimental factor	axial hypoblast
UBERON:2001391	\N	\N	"The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system." []	UBERON:2001391	"The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system." []	80279	\N	\N	EFO	0	EFO	anterior lateral line ganglion	anterior lateral line ganglion
EFO:0003331	UBERON:2001391	\N	"" []	UBERON:2001391	"The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system." []	224994	\N	\N	EFO	1	EFO	zebrafish component	anterior lateral line ganglion
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001391	"The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system." []	581907	\N	\N	EFO	2	EFO	animal component	anterior lateral line ganglion
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001391	"The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system." []	1165954	\N	\N	EFO	3	EFO	anatomy basic component	anterior lateral line ganglion
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001391	"The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system." []	2049877	\N	\N	EFO	4	EFO	organism part	anterior lateral line ganglion
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001391	"The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system." []	3199853	\N	\N	EFO	5	EFO	material entity	anterior lateral line ganglion
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001391	"The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system." []	4404933	\N	\N	EFO	6	EFO	experimental factor	anterior lateral line ganglion
UBERON:2001431	\N	\N	"" []	UBERON:2001431	"" []	80280	\N	\N	EFO	0	EFO	primitive olfactory epithelium	primitive olfactory epithelium
EFO:0003331	UBERON:2001431	\N	"" []	UBERON:2001431	"" []	224995	\N	\N	EFO	1	EFO	zebrafish component	primitive olfactory epithelium
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001431	"" []	581908	\N	\N	EFO	2	EFO	animal component	primitive olfactory epithelium
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001431	"" []	1165955	\N	\N	EFO	3	EFO	anatomy basic component	primitive olfactory epithelium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001431	"" []	2049878	\N	\N	EFO	4	EFO	organism part	primitive olfactory epithelium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001431	"" []	3199854	\N	\N	EFO	5	EFO	material entity	primitive olfactory epithelium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001431	"" []	4404934	\N	\N	EFO	6	EFO	experimental factor	primitive olfactory epithelium
UBERON:2001468	\N	\N	"The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	UBERON:2001468	"The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	80281	\N	\N	EFO	0	EFO	anterior lateral line system	anterior lateral line system
EFO:0003331	UBERON:2001468	\N	"" []	UBERON:2001468	"The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	224996	\N	\N	EFO	1	EFO	zebrafish component	anterior lateral line system
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001468	"The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	581909	\N	\N	EFO	2	EFO	animal component	anterior lateral line system
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001468	"The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	1165956	\N	\N	EFO	3	EFO	anatomy basic component	anterior lateral line system
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001468	"The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	2049879	\N	\N	EFO	4	EFO	organism part	anterior lateral line system
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001468	"The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	3199855	\N	\N	EFO	5	EFO	material entity	anterior lateral line system
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001468	"The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	4404935	\N	\N	EFO	6	EFO	experimental factor	anterior lateral line system
UBERON:2001471	\N	\N	"The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	UBERON:2001471	"The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	80282	\N	\N	EFO	0	EFO	posterior lateral line system	posterior lateral line system
EFO:0003331	UBERON:2001471	\N	"" []	UBERON:2001471	"The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	224997	\N	\N	EFO	1	EFO	zebrafish component	posterior lateral line system
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2001471	"The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	581910	\N	\N	EFO	2	EFO	animal component	posterior lateral line system
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2001471	"The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	1165957	\N	\N	EFO	3	EFO	anatomy basic component	posterior lateral line system
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2001471	"The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	2049880	\N	\N	EFO	4	EFO	organism part	posterior lateral line system
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2001471	"The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	3199856	\N	\N	EFO	5	EFO	material entity	posterior lateral line system
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2001471	"The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance." []	4404936	\N	\N	EFO	6	EFO	experimental factor	posterior lateral line system
UBERON:2005010	\N	\N	"The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceed laterally in a ventral direction to drain into the paired primordial midbrain channels (PHBC)." []	UBERON:2005010	"The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceed laterally in a ventral direction to drain into the paired primordial midbrain channels (PHBC)." []	80283	\N	\N	EFO	0	EFO	mid cerebral vein	mid cerebral vein
EFO:0003331	UBERON:2005010	\N	"" []	UBERON:2005010	"The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceed laterally in a ventral direction to drain into the paired primordial midbrain channels (PHBC)." []	224998	\N	\N	EFO	1	EFO	zebrafish component	mid cerebral vein
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2005010	"The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceed laterally in a ventral direction to drain into the paired primordial midbrain channels (PHBC)." []	581911	\N	\N	EFO	2	EFO	animal component	mid cerebral vein
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2005010	"The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceed laterally in a ventral direction to drain into the paired primordial midbrain channels (PHBC)." []	1165958	\N	\N	EFO	3	EFO	anatomy basic component	mid cerebral vein
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2005010	"The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceed laterally in a ventral direction to drain into the paired primordial midbrain channels (PHBC)." []	2049881	\N	\N	EFO	4	EFO	organism part	mid cerebral vein
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2005010	"The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceed laterally in a ventral direction to drain into the paired primordial midbrain channels (PHBC)." []	3199857	\N	\N	EFO	5	EFO	material entity	mid cerebral vein
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2005010	"The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceed laterally in a ventral direction to drain into the paired primordial midbrain channels (PHBC)." []	4404937	\N	\N	EFO	6	EFO	experimental factor	mid cerebral vein
UBERON:2005017	\N	\N	"The vessel between the anterior cerebral vein and the mid cerebral vein." []	UBERON:2005017	"The vessel between the anterior cerebral vein and the mid cerebral vein." []	80284	\N	\N	EFO	0	EFO	primordial midbrain channel	primordial midbrain channel
EFO:0003331	UBERON:2005017	\N	"" []	UBERON:2005017	"The vessel between the anterior cerebral vein and the mid cerebral vein." []	224999	\N	\N	EFO	1	EFO	zebrafish component	primordial midbrain channel
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2005017	"The vessel between the anterior cerebral vein and the mid cerebral vein." []	581912	\N	\N	EFO	2	EFO	animal component	primordial midbrain channel
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2005017	"The vessel between the anterior cerebral vein and the mid cerebral vein." []	1165959	\N	\N	EFO	3	EFO	anatomy basic component	primordial midbrain channel
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2005017	"The vessel between the anterior cerebral vein and the mid cerebral vein." []	2049882	\N	\N	EFO	4	EFO	organism part	primordial midbrain channel
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2005017	"The vessel between the anterior cerebral vein and the mid cerebral vein." []	3199858	\N	\N	EFO	5	EFO	material entity	primordial midbrain channel
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2005017	"The vessel between the anterior cerebral vein and the mid cerebral vein." []	4404938	\N	\N	EFO	6	EFO	experimental factor	primordial midbrain channel
UBERON:2005025	\N	\N	"Trunk vessel that runs medially along the dorsal-most portion of the trunk and post-vent region. The DLAVs are formed by the longitudinal anastamoses of the intersegmental vessels to form a right and left pair of dorsal longitudinal anastamotic vessels. These paired vessels remodel to form a single plexiform vessel beginning at 3dpf continuing until after 7dpf.  The basilar artery connects to the DLAVs at the caudal end of the medulla oblongata.  In the early embryo (2.5-3.5 dpf) the primitive hindbrain channels also connect to the DLAV." []	UBERON:2005025	"Trunk vessel that runs medially along the dorsal-most portion of the trunk and post-vent region. The DLAVs are formed by the longitudinal anastamoses of the intersegmental vessels to form a right and left pair of dorsal longitudinal anastamotic vessels. These paired vessels remodel to form a single plexiform vessel beginning at 3dpf continuing until after 7dpf.  The basilar artery connects to the DLAVs at the caudal end of the medulla oblongata.  In the early embryo (2.5-3.5 dpf) the primitive hindbrain channels also connect to the DLAV." []	80285	\N	\N	EFO	0	EFO	dorsal longitudinal anastomotic vessel	dorsal longitudinal anastomotic vessel
EFO:0003331	UBERON:2005025	\N	"" []	UBERON:2005025	"Trunk vessel that runs medially along the dorsal-most portion of the trunk and post-vent region. The DLAVs are formed by the longitudinal anastamoses of the intersegmental vessels to form a right and left pair of dorsal longitudinal anastamotic vessels. These paired vessels remodel to form a single plexiform vessel beginning at 3dpf continuing until after 7dpf.  The basilar artery connects to the DLAVs at the caudal end of the medulla oblongata.  In the early embryo (2.5-3.5 dpf) the primitive hindbrain channels also connect to the DLAV." []	225000	\N	\N	EFO	1	EFO	zebrafish component	dorsal longitudinal anastomotic vessel
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2005025	"Trunk vessel that runs medially along the dorsal-most portion of the trunk and post-vent region. The DLAVs are formed by the longitudinal anastamoses of the intersegmental vessels to form a right and left pair of dorsal longitudinal anastamotic vessels. These paired vessels remodel to form a single plexiform vessel beginning at 3dpf continuing until after 7dpf.  The basilar artery connects to the DLAVs at the caudal end of the medulla oblongata.  In the early embryo (2.5-3.5 dpf) the primitive hindbrain channels also connect to the DLAV." []	581913	\N	\N	EFO	2	EFO	animal component	dorsal longitudinal anastomotic vessel
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2005025	"Trunk vessel that runs medially along the dorsal-most portion of the trunk and post-vent region. The DLAVs are formed by the longitudinal anastamoses of the intersegmental vessels to form a right and left pair of dorsal longitudinal anastamotic vessels. These paired vessels remodel to form a single plexiform vessel beginning at 3dpf continuing until after 7dpf.  The basilar artery connects to the DLAVs at the caudal end of the medulla oblongata.  In the early embryo (2.5-3.5 dpf) the primitive hindbrain channels also connect to the DLAV." []	1165960	\N	\N	EFO	3	EFO	anatomy basic component	dorsal longitudinal anastomotic vessel
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2005025	"Trunk vessel that runs medially along the dorsal-most portion of the trunk and post-vent region. The DLAVs are formed by the longitudinal anastamoses of the intersegmental vessels to form a right and left pair of dorsal longitudinal anastamotic vessels. These paired vessels remodel to form a single plexiform vessel beginning at 3dpf continuing until after 7dpf.  The basilar artery connects to the DLAVs at the caudal end of the medulla oblongata.  In the early embryo (2.5-3.5 dpf) the primitive hindbrain channels also connect to the DLAV." []	2049883	\N	\N	EFO	4	EFO	organism part	dorsal longitudinal anastomotic vessel
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2005025	"Trunk vessel that runs medially along the dorsal-most portion of the trunk and post-vent region. The DLAVs are formed by the longitudinal anastamoses of the intersegmental vessels to form a right and left pair of dorsal longitudinal anastamotic vessels. These paired vessels remodel to form a single plexiform vessel beginning at 3dpf continuing until after 7dpf.  The basilar artery connects to the DLAVs at the caudal end of the medulla oblongata.  In the early embryo (2.5-3.5 dpf) the primitive hindbrain channels also connect to the DLAV." []	3199859	\N	\N	EFO	5	EFO	material entity	dorsal longitudinal anastomotic vessel
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2005025	"Trunk vessel that runs medially along the dorsal-most portion of the trunk and post-vent region. The DLAVs are formed by the longitudinal anastamoses of the intersegmental vessels to form a right and left pair of dorsal longitudinal anastamotic vessels. These paired vessels remodel to form a single plexiform vessel beginning at 3dpf continuing until after 7dpf.  The basilar artery connects to the DLAVs at the caudal end of the medulla oblongata.  In the early embryo (2.5-3.5 dpf) the primitive hindbrain channels also connect to the DLAV." []	4404939	\N	\N	EFO	6	EFO	experimental factor	dorsal longitudinal anastomotic vessel
UBERON:2005029	\N	\N	"Hematopoietic tissue derived from the cephalic mesoderm.  Predominantly produces myeloid cells." []	UBERON:2005029	"Hematopoietic tissue derived from the cephalic mesoderm.  Predominantly produces myeloid cells." []	80286	\N	\N	EFO	0	EFO	rostral blood island	rostral blood island
EFO:0003331	UBERON:2005029	\N	"" []	UBERON:2005029	"Hematopoietic tissue derived from the cephalic mesoderm.  Predominantly produces myeloid cells." []	225001	\N	\N	EFO	1	EFO	zebrafish component	rostral blood island
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2005029	"Hematopoietic tissue derived from the cephalic mesoderm.  Predominantly produces myeloid cells." []	581914	\N	\N	EFO	2	EFO	animal component	rostral blood island
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2005029	"Hematopoietic tissue derived from the cephalic mesoderm.  Predominantly produces myeloid cells." []	1165961	\N	\N	EFO	3	EFO	anatomy basic component	rostral blood island
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2005029	"Hematopoietic tissue derived from the cephalic mesoderm.  Predominantly produces myeloid cells." []	2049884	\N	\N	EFO	4	EFO	organism part	rostral blood island
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2005029	"Hematopoietic tissue derived from the cephalic mesoderm.  Predominantly produces myeloid cells." []	3199860	\N	\N	EFO	5	EFO	material entity	rostral blood island
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2005029	"Hematopoietic tissue derived from the cephalic mesoderm.  Predominantly produces myeloid cells." []	4404940	\N	\N	EFO	6	EFO	experimental factor	rostral blood island
UBERON:2005034	\N	\N	"Vessels run longitudinally along the horizontal myoseptum.  These vessels are not functional until after lumenization which occurs near 4 dpf." []	UBERON:2005034	"Vessels run longitudinally along the horizontal myoseptum.  These vessels are not functional until after lumenization which occurs near 4 dpf." []	80287	\N	\N	EFO	0	EFO	parachordal vessel	parachordal vessel
EFO:0003331	UBERON:2005034	\N	"" []	UBERON:2005034	"Vessels run longitudinally along the horizontal myoseptum.  These vessels are not functional until after lumenization which occurs near 4 dpf." []	225002	\N	\N	EFO	1	EFO	zebrafish component	parachordal vessel
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2005034	"Vessels run longitudinally along the horizontal myoseptum.  These vessels are not functional until after lumenization which occurs near 4 dpf." []	581915	\N	\N	EFO	2	EFO	animal component	parachordal vessel
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2005034	"Vessels run longitudinally along the horizontal myoseptum.  These vessels are not functional until after lumenization which occurs near 4 dpf." []	1165962	\N	\N	EFO	3	EFO	anatomy basic component	parachordal vessel
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2005034	"Vessels run longitudinally along the horizontal myoseptum.  These vessels are not functional until after lumenization which occurs near 4 dpf." []	2049885	\N	\N	EFO	4	EFO	organism part	parachordal vessel
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2005034	"Vessels run longitudinally along the horizontal myoseptum.  These vessels are not functional until after lumenization which occurs near 4 dpf." []	3199861	\N	\N	EFO	5	EFO	material entity	parachordal vessel
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2005034	"Vessels run longitudinally along the horizontal myoseptum.  These vessels are not functional until after lumenization which occurs near 4 dpf." []	4404941	\N	\N	EFO	6	EFO	experimental factor	parachordal vessel
UBERON:2005039	\N	\N	"" []	UBERON:2005039	"" []	80288	\N	\N	EFO	0	EFO	anterior lateral mesoderm	anterior lateral mesoderm
EFO:0003331	UBERON:2005039	\N	"" []	UBERON:2005039	"" []	225003	\N	\N	EFO	1	EFO	zebrafish component	anterior lateral mesoderm
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2005039	"" []	581916	\N	\N	EFO	2	EFO	animal component	anterior lateral mesoderm
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2005039	"" []	1165963	\N	\N	EFO	3	EFO	anatomy basic component	anterior lateral mesoderm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2005039	"" []	2049886	\N	\N	EFO	4	EFO	organism part	anterior lateral mesoderm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2005039	"" []	3199862	\N	\N	EFO	5	EFO	material entity	anterior lateral mesoderm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2005039	"" []	4404942	\N	\N	EFO	6	EFO	experimental factor	anterior lateral mesoderm
UBERON:2005073	\N	\N	"A ring of conduction tissue that forms in the atrioventricular canal." []	UBERON:2005073	"A ring of conduction tissue that forms in the atrioventricular canal." []	80289	\N	\N	EFO	0	EFO	atrioventricular ring	atrioventricular ring
EFO:0003331	UBERON:2005073	\N	"" []	UBERON:2005073	"A ring of conduction tissue that forms in the atrioventricular canal." []	225004	\N	\N	EFO	1	EFO	zebrafish component	atrioventricular ring
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2005073	"A ring of conduction tissue that forms in the atrioventricular canal." []	581917	\N	\N	EFO	2	EFO	animal component	atrioventricular ring
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2005073	"A ring of conduction tissue that forms in the atrioventricular canal." []	1165964	\N	\N	EFO	3	EFO	anatomy basic component	atrioventricular ring
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2005073	"A ring of conduction tissue that forms in the atrioventricular canal." []	2049887	\N	\N	EFO	4	EFO	organism part	atrioventricular ring
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2005073	"A ring of conduction tissue that forms in the atrioventricular canal." []	3199863	\N	\N	EFO	5	EFO	material entity	atrioventricular ring
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2005073	"A ring of conduction tissue that forms in the atrioventricular canal." []	4404943	\N	\N	EFO	6	EFO	experimental factor	atrioventricular ring
UBERON:2005103	\N	\N	"" []	UBERON:2005103	"" []	80290	\N	\N	EFO	0	EFO	presumptive ventral fin fold	presumptive ventral fin fold
EFO:0003332	UBERON:2005103	\N	"" []	UBERON:2005103	"" []	225005	\N	\N	EFO	1	EFO	zebrafish embryonic structure	presumptive ventral fin fold
EFO:0003331	EFO:0003332	\N	"" []	UBERON:2005103	"" []	581918	\N	\N	EFO	2	EFO	zebrafish component	presumptive ventral fin fold
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2005103	"" []	1165965	\N	\N	EFO	3	EFO	animal component	presumptive ventral fin fold
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2005103	"" []	2049888	\N	\N	EFO	4	EFO	anatomy basic component	presumptive ventral fin fold
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2005103	"" []	3199864	\N	\N	EFO	5	EFO	organism part	presumptive ventral fin fold
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2005103	"" []	4404944	\N	\N	EFO	6	EFO	material entity	presumptive ventral fin fold
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2005103	"" []	5420288	\N	\N	EFO	7	EFO	experimental factor	presumptive ventral fin fold
UBERON:2005117	\N	\N	"A migrating group of cells originating from an anterior lateral line placode.  The primordium deposits neuromasts and interneuromasts between them during its migration." []	UBERON:2005117	"A migrating group of cells originating from an anterior lateral line placode.  The primordium deposits neuromasts and interneuromasts between them during its migration." []	80291	\N	\N	EFO	0	EFO	anterior lateral line primordium	anterior lateral line primordium
EFO:0003331	UBERON:2005117	\N	"" []	UBERON:2005117	"A migrating group of cells originating from an anterior lateral line placode.  The primordium deposits neuromasts and interneuromasts between them during its migration." []	225006	\N	\N	EFO	1	EFO	zebrafish component	anterior lateral line primordium
EFO:0000787	EFO:0003331	\N	"" []	UBERON:2005117	"A migrating group of cells originating from an anterior lateral line placode.  The primordium deposits neuromasts and interneuromasts between them during its migration." []	581919	\N	\N	EFO	2	EFO	animal component	anterior lateral line primordium
EFO:0000786	EFO:0000787	\N	"" []	UBERON:2005117	"A migrating group of cells originating from an anterior lateral line placode.  The primordium deposits neuromasts and interneuromasts between them during its migration." []	1165966	\N	\N	EFO	3	EFO	anatomy basic component	anterior lateral line primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:2005117	"A migrating group of cells originating from an anterior lateral line placode.  The primordium deposits neuromasts and interneuromasts between them during its migration." []	2049889	\N	\N	EFO	4	EFO	organism part	anterior lateral line primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:2005117	"A migrating group of cells originating from an anterior lateral line placode.  The primordium deposits neuromasts and interneuromasts between them during its migration." []	3199865	\N	\N	EFO	5	EFO	material entity	anterior lateral line primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:2005117	"A migrating group of cells originating from an anterior lateral line placode.  The primordium deposits neuromasts and interneuromasts between them during its migration." []	4404945	\N	\N	EFO	6	EFO	experimental factor	anterior lateral line primordium
UBERON:4000163	\N	\N	"" []	UBERON:4000163	"" []	80292	\N	\N	EFO	0	EFO	anal fin	anal fin
EFO:0003331	UBERON:4000163	\N	"" []	UBERON:4000163	"" []	225007	\N	\N	EFO	1	EFO	zebrafish component	anal fin
EFO:0000787	EFO:0003331	\N	"" []	UBERON:4000163	"" []	581920	\N	\N	EFO	2	EFO	animal component	anal fin
EFO:0000786	EFO:0000787	\N	"" []	UBERON:4000163	"" []	1165967	\N	\N	EFO	3	EFO	anatomy basic component	anal fin
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:4000163	"" []	2049890	\N	\N	EFO	4	EFO	organism part	anal fin
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:4000163	"" []	3199866	\N	\N	EFO	5	EFO	material entity	anal fin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:4000163	"" []	4404946	\N	\N	EFO	6	EFO	experimental factor	anal fin
UBERON:4000164	\N	\N	"The caudal fin is the most posterior median fin. It is composed of a complex of modified centra and modified neural and hemal arches and spines." []	UBERON:4000164	"The caudal fin is the most posterior median fin. It is composed of a complex of modified centra and modified neural and hemal arches and spines." []	80293	\N	\N	EFO	0	EFO	caudal fin {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	caudal fin {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:0008897	UBERON:4000164	\N	"Surface structure involved in locomotion." []	UBERON:4000164	"The caudal fin is the most posterior median fin. It is composed of a complex of modified centra and modified neural and hemal arches and spines." []	225008	\N	\N	EFO	1	EFO	fin	caudal fin {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
UBERON:4000170	\N	\N	"" []	UBERON:4000170	"" []	80294	\N	\N	EFO	0	EFO	median fin skeleton	median fin skeleton
EFO:0003858	UBERON:4000170	\N	"" []	UBERON:4000170	"" []	225009	\N	\N	EFO	1	EFO	skeleton structure	median fin skeleton
EFO:0000787	EFO:0003858	\N	"" []	UBERON:4000170	"" []	581921	\N	\N	EFO	2	EFO	animal component	median fin skeleton
EFO:0000786	EFO:0000787	\N	"" []	UBERON:4000170	"" []	1165968	\N	\N	EFO	3	EFO	anatomy basic component	median fin skeleton
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:4000170	"" []	2049891	\N	\N	EFO	4	EFO	organism part	median fin skeleton
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:4000170	"" []	3199867	\N	\N	EFO	5	EFO	material entity	median fin skeleton
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:4000170	"" []	4404947	\N	\N	EFO	6	EFO	experimental factor	median fin skeleton
UBERON:4200173	\N	\N	"" []	UBERON:4200173	"" []	80295	\N	\N	EFO	0	EFO	dorsal ridge	dorsal ridge
EFO:0000795	UBERON:4200173	\N	"Embryonic structure (body structure)" []	UBERON:4200173	"" []	225010	\N	\N	EFO	1	EFO	animal developmental tissue	dorsal ridge
EFO:0000787	EFO:0000795	\N	"" []	UBERON:4200173	"" []	581922	\N	\N	EFO	2	EFO	animal component	dorsal ridge
EFO:0000786	EFO:0000787	\N	"" []	UBERON:4200173	"" []	1165969	\N	\N	EFO	3	EFO	anatomy basic component	dorsal ridge
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:4200173	"" []	2049892	\N	\N	EFO	4	EFO	organism part	dorsal ridge
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:4200173	"" []	3199868	\N	\N	EFO	5	EFO	material entity	dorsal ridge
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:4200173	"" []	4404948	\N	\N	EFO	6	EFO	experimental factor	dorsal ridge
UBERON:6000186	\N	\N	"Anatomical structure: embryonic optic lobe primordium - FBbt:00000186 - Drosophila melanogaster (fruitfly)" []	UBERON:6000186	"Anatomical structure: embryonic optic lobe primordium - FBbt:00000186 - Drosophila melanogaster (fruitfly)" []	80296	\N	\N	EFO	0	EFO	embryonic optic lobe primordium	embryonic optic lobe primordium
EFO:0003333	UBERON:6000186	\N	"" []	UBERON:6000186	"Anatomical structure: embryonic optic lobe primordium - FBbt:00000186 - Drosophila melanogaster (fruitfly)" []	225011	\N	\N	EFO	1	EFO	Drosophila developmental tissue	embryonic optic lobe primordium
EFO:0003334	EFO:0003333	\N	"" []	UBERON:6000186	"Anatomical structure: embryonic optic lobe primordium - FBbt:00000186 - Drosophila melanogaster (fruitfly)" []	581923	\N	\N	EFO	2	EFO	Drosophila component	embryonic optic lobe primordium
EFO:0000787	EFO:0003334	\N	"" []	UBERON:6000186	"Anatomical structure: embryonic optic lobe primordium - FBbt:00000186 - Drosophila melanogaster (fruitfly)" []	1165970	\N	\N	EFO	3	EFO	animal component	embryonic optic lobe primordium
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6000186	"Anatomical structure: embryonic optic lobe primordium - FBbt:00000186 - Drosophila melanogaster (fruitfly)" []	2049893	\N	\N	EFO	4	EFO	anatomy basic component	embryonic optic lobe primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6000186	"Anatomical structure: embryonic optic lobe primordium - FBbt:00000186 - Drosophila melanogaster (fruitfly)" []	3199869	\N	\N	EFO	5	EFO	organism part	embryonic optic lobe primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6000186	"Anatomical structure: embryonic optic lobe primordium - FBbt:00000186 - Drosophila melanogaster (fruitfly)" []	4404949	\N	\N	EFO	6	EFO	material entity	embryonic optic lobe primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6000186	"Anatomical structure: embryonic optic lobe primordium - FBbt:00000186 - Drosophila melanogaster (fruitfly)" []	5420289	\N	\N	EFO	7	EFO	experimental factor	embryonic optic lobe primordium
UBERON:6001059	\N	\N	"" []	UBERON:6001059	"" []	80297	\N	\N	EFO	0	EFO	visual primordium	visual primordium
EFO:0003335	UBERON:6001059	\N	"" []	UBERON:6001059	"" []	225012	\N	\N	EFO	1	EFO	Drosophila embryonic structure	visual primordium
EFO:0003334	EFO:0003335	\N	"" []	UBERON:6001059	"" []	581924	\N	\N	EFO	2	EFO	Drosophila component	visual primordium
EFO:0000787	EFO:0003334	\N	"" []	UBERON:6001059	"" []	1165971	\N	\N	EFO	3	EFO	animal component	visual primordium
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6001059	"" []	2049894	\N	\N	EFO	4	EFO	anatomy basic component	visual primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6001059	"" []	3199870	\N	\N	EFO	5	EFO	organism part	visual primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6001059	"" []	4404950	\N	\N	EFO	6	EFO	material entity	visual primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6001059	"" []	5420290	\N	\N	EFO	7	EFO	experimental factor	visual primordium
UBERON:6001060	\N	\N	"Brain of the embryo." []	UBERON:6001060	"Brain of the embryo." []	80298	\N	\N	EFO	0	EFO	embryonic brain	embryonic brain
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:6001060	"Brain of the embryo." []	196355	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	embryonic brain
UBERON:6001722	\N	\N	"A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci." []	UBERON:6001722	"A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci." []	80299	\N	\N	EFO	0	EFO	ring gland	ring gland
EFO:0003334	UBERON:6001722	\N	"" []	UBERON:6001722	"A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci." []	225013	\N	\N	EFO	1	EFO	Drosophila component	ring gland
EFO:0000787	EFO:0003334	\N	"" []	UBERON:6001722	"A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci." []	581925	\N	\N	EFO	2	EFO	animal component	ring gland
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6001722	"A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci." []	1165972	\N	\N	EFO	3	EFO	anatomy basic component	ring gland
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6001722	"A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci." []	2049895	\N	\N	EFO	4	EFO	organism part	ring gland
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6001722	"A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci." []	3199871	\N	\N	EFO	5	EFO	material entity	ring gland
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6001722	"A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci." []	4404951	\N	\N	EFO	6	EFO	experimental factor	ring gland
UBERON:6001734	\N	\N	"" []	UBERON:6001734	"" []	80300	\N	\N	EFO	0	EFO	larval labral segment	larval labral segment
EFO:0003334	UBERON:6001734	\N	"" []	UBERON:6001734	"" []	225014	\N	\N	EFO	1	EFO	Drosophila component	larval labral segment
EFO:0000787	EFO:0003334	\N	"" []	UBERON:6001734	"" []	581926	\N	\N	EFO	2	EFO	animal component	larval labral segment
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6001734	"" []	1165973	\N	\N	EFO	3	EFO	anatomy basic component	larval labral segment
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6001734	"" []	2049896	\N	\N	EFO	4	EFO	organism part	larval labral segment
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6001734	"" []	3199872	\N	\N	EFO	5	EFO	material entity	larval labral segment
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6001734	"" []	4404952	\N	\N	EFO	6	EFO	experimental factor	larval labral segment
UBERON:6001767	\N	\N	"Posterior portion of the eye-antennal disc. It gives rise to the adult antennal segments and the maxillary palp, as well as contributing to the head capsule." []	UBERON:6001767	"Posterior portion of the eye-antennal disc. It gives rise to the adult antennal segments and the maxillary palp, as well as contributing to the head capsule." []	80301	\N	\N	EFO	0	EFO	antennal disc	antennal disc
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:6001767	"Posterior portion of the eye-antennal disc. It gives rise to the adult antennal segments and the maxillary palp, as well as contributing to the head capsule." []	196356	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	antennal disc
UBERON:6001778	\N	\N	"The entire dorsal mesothoracic disc (wing, notal, and pleural parts), in the larval stage of Drosophila." []	UBERON:6001778	"The entire dorsal mesothoracic disc (wing, notal, and pleural parts), in the larval stage of Drosophila." []	80302	\N	\N	EFO	0	EFO	wing disc	wing disc
UBERON:0002050	\N	\N	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:6001778	"The entire dorsal mesothoracic disc (wing, notal, and pleural parts), in the larval stage of Drosophila." []	196357	\N	efo_slim,inconsistent_with_fma,vertebrate_core	EFO	0	EFO	embryonic structure	wing disc
UBERON:6001779	\N	\N	"Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere." []	UBERON:6001779	"Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere." []	80303	\N	\N	EFO	0	EFO	dorsal metathoracic disc	dorsal metathoracic disc
EFO:0000795	UBERON:6001779	\N	"Embryonic structure (body structure)" []	UBERON:6001779	"Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere." []	225015	\N	\N	EFO	1	EFO	animal developmental tissue	dorsal metathoracic disc
EFO:0000787	EFO:0000795	\N	"" []	UBERON:6001779	"Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere." []	581927	\N	\N	EFO	2	EFO	animal component	dorsal metathoracic disc
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6001779	"Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere." []	1165974	\N	\N	EFO	3	EFO	anatomy basic component	dorsal metathoracic disc
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6001779	"Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere." []	2049897	\N	\N	EFO	4	EFO	organism part	dorsal metathoracic disc
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6001779	"Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere." []	3199873	\N	\N	EFO	5	EFO	material entity	dorsal metathoracic disc
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6001779	"Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere." []	4404953	\N	\N	EFO	6	EFO	experimental factor	dorsal metathoracic disc
UBERON:6001780	\N	\N	"Imaginal disc that is a precursor of ventral thoracic structures of the adult." []	UBERON:6001780	"Imaginal disc that is a precursor of ventral thoracic structures of the adult." []	80304	\N	\N	EFO	0	EFO	ventral thoracic disc	ventral thoracic disc
EFO:0003333	UBERON:6001780	\N	"" []	UBERON:6001780	"Imaginal disc that is a precursor of ventral thoracic structures of the adult." []	225016	\N	\N	EFO	1	EFO	Drosophila developmental tissue	ventral thoracic disc
EFO:0003334	EFO:0003333	\N	"" []	UBERON:6001780	"Imaginal disc that is a precursor of ventral thoracic structures of the adult." []	581928	\N	\N	EFO	2	EFO	Drosophila component	ventral thoracic disc
EFO:0000787	EFO:0003334	\N	"" []	UBERON:6001780	"Imaginal disc that is a precursor of ventral thoracic structures of the adult." []	1165975	\N	\N	EFO	3	EFO	animal component	ventral thoracic disc
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6001780	"Imaginal disc that is a precursor of ventral thoracic structures of the adult." []	2049898	\N	\N	EFO	4	EFO	anatomy basic component	ventral thoracic disc
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6001780	"Imaginal disc that is a precursor of ventral thoracic structures of the adult." []	3199874	\N	\N	EFO	5	EFO	organism part	ventral thoracic disc
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6001780	"Imaginal disc that is a precursor of ventral thoracic structures of the adult." []	4404954	\N	\N	EFO	6	EFO	material entity	ventral thoracic disc
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6001780	"Imaginal disc that is a precursor of ventral thoracic structures of the adult." []	5420291	\N	\N	EFO	7	EFO	experimental factor	ventral thoracic disc
UBERON:6001791	\N	\N	"" []	UBERON:6001791	"" []	80305	\N	\N	EFO	0	EFO	dorsal histoblast nest abdominal	dorsal histoblast nest abdominal
EFO:0000795	UBERON:6001791	\N	"Embryonic structure (body structure)" []	UBERON:6001791	"" []	225017	\N	\N	EFO	1	EFO	animal developmental tissue	dorsal histoblast nest abdominal
EFO:0000787	EFO:0000795	\N	"" []	UBERON:6001791	"" []	581929	\N	\N	EFO	2	EFO	animal component	dorsal histoblast nest abdominal
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6001791	"" []	1165976	\N	\N	EFO	3	EFO	anatomy basic component	dorsal histoblast nest abdominal
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6001791	"" []	2049899	\N	\N	EFO	4	EFO	organism part	dorsal histoblast nest abdominal
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6001791	"" []	3199875	\N	\N	EFO	5	EFO	material entity	dorsal histoblast nest abdominal
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6001791	"" []	4404955	\N	\N	EFO	6	EFO	experimental factor	dorsal histoblast nest abdominal
UBERON:6005037	\N	\N	"Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16." []	UBERON:6005037	"Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16." []	80306	\N	\N	EFO	0	EFO	tracheal primordium	tracheal primordium
EFO:0003333	UBERON:6005037	\N	"" []	UBERON:6005037	"Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16." []	225018	\N	\N	EFO	1	EFO	Drosophila developmental tissue	tracheal primordium
EFO:0003334	EFO:0003333	\N	"" []	UBERON:6005037	"Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16." []	581930	\N	\N	EFO	2	EFO	Drosophila component	tracheal primordium
EFO:0000787	EFO:0003334	\N	"" []	UBERON:6005037	"Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16." []	1165977	\N	\N	EFO	3	EFO	animal component	tracheal primordium
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6005037	"Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16." []	2049900	\N	\N	EFO	4	EFO	anatomy basic component	tracheal primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6005037	"Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16." []	3199876	\N	\N	EFO	5	EFO	organism part	tracheal primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6005037	"Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16." []	4404956	\N	\N	EFO	6	EFO	material entity	tracheal primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6005037	"Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16." []	5420292	\N	\N	EFO	7	EFO	experimental factor	tracheal primordium
UBERON:6005054	\N	\N	"The mostly slit-like opening on the body surface of the insects through which air is taken into the respiratory system." []	UBERON:6005054	"The mostly slit-like opening on the body surface of the insects through which air is taken into the respiratory system." []	80307	\N	\N	EFO	0	EFO	spiracle	spiracle
UBERON:0001004	\N	\N	"Functional system which consists of structures involved in respiration." [Wikipedia:Respiratory_system]	UBERON:6005054	"The mostly slit-like opening on the body surface of the insects through which air is taken into the respiratory system." []	196358	\N	efo_slim,functional_classification,uberon_slim,vertebrate_core	EFO	0	EFO	respiratory system	spiracle
UBERON:6005413	\N	\N	"\\"anlagen in statu nascendi\\" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains." []	UBERON:6005413	"\\"anlagen in statu nascendi\\" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains." []	80308	\N	\N	EFO	0	EFO	anlage in statu nascendi	anlage in statu nascendi
EFO:0000795	UBERON:6005413	\N	"Embryonic structure (body structure)" []	UBERON:6005413	"\\"anlagen in statu nascendi\\" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains." []	225019	\N	\N	EFO	1	EFO	animal developmental tissue	anlage in statu nascendi
EFO:0000787	EFO:0000795	\N	"" []	UBERON:6005413	"\\"anlagen in statu nascendi\\" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains." []	581931	\N	\N	EFO	2	EFO	animal component	anlage in statu nascendi
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6005413	"\\"anlagen in statu nascendi\\" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains." []	1165978	\N	\N	EFO	3	EFO	anatomy basic component	anlage in statu nascendi
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6005413	"\\"anlagen in statu nascendi\\" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains." []	2049901	\N	\N	EFO	4	EFO	organism part	anlage in statu nascendi
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6005413	"\\"anlagen in statu nascendi\\" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains." []	3199877	\N	\N	EFO	5	EFO	material entity	anlage in statu nascendi
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6005413	"\\"anlagen in statu nascendi\\" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains." []	4404957	\N	\N	EFO	6	EFO	experimental factor	anlage in statu nascendi
UBERON:6005425	\N	\N	"" []	UBERON:6005425	"" []	80309	\N	\N	EFO	0	EFO	visual anlage in statu nascendi	visual anlage in statu nascendi
EFO:0003335	UBERON:6005425	\N	"" []	UBERON:6005425	"" []	225020	\N	\N	EFO	1	EFO	Drosophila embryonic structure	visual anlage in statu nascendi
EFO:0003334	EFO:0003335	\N	"" []	UBERON:6005425	"" []	581932	\N	\N	EFO	2	EFO	Drosophila component	visual anlage in statu nascendi
EFO:0000787	EFO:0003334	\N	"" []	UBERON:6005425	"" []	1165979	\N	\N	EFO	3	EFO	animal component	visual anlage in statu nascendi
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6005425	"" []	2049902	\N	\N	EFO	4	EFO	anatomy basic component	visual anlage in statu nascendi
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6005425	"" []	3199878	\N	\N	EFO	5	EFO	organism part	visual anlage in statu nascendi
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6005425	"" []	4404958	\N	\N	EFO	6	EFO	material entity	visual anlage in statu nascendi
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6005425	"" []	5420293	\N	\N	EFO	7	EFO	experimental factor	visual anlage in statu nascendi
UBERON:6005434	\N	\N	"" []	UBERON:6005434	"" []	80310	\N	\N	EFO	0	EFO	visual anlage	visual anlage
EFO:0003333	UBERON:6005434	\N	"" []	UBERON:6005434	"" []	225021	\N	\N	EFO	1	EFO	Drosophila developmental tissue	visual anlage
EFO:0003334	EFO:0003333	\N	"" []	UBERON:6005434	"" []	581933	\N	\N	EFO	2	EFO	Drosophila component	visual anlage
EFO:0000787	EFO:0003334	\N	"" []	UBERON:6005434	"" []	1165980	\N	\N	EFO	3	EFO	animal component	visual anlage
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6005434	"" []	2049903	\N	\N	EFO	4	EFO	anatomy basic component	visual anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6005434	"" []	3199879	\N	\N	EFO	5	EFO	organism part	visual anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6005434	"" []	4404959	\N	\N	EFO	6	EFO	material entity	visual anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6005434	"" []	5420294	\N	\N	EFO	7	EFO	experimental factor	visual anlage
UBERON:6005436	\N	\N	"" []	UBERON:6005436	"" []	80311	\N	\N	EFO	0	EFO	trunk mesoderm anlage	trunk mesoderm anlage
EFO:0003334	UBERON:6005436	\N	"" []	UBERON:6005436	"" []	225022	\N	\N	EFO	1	EFO	Drosophila component	trunk mesoderm anlage
EFO:0000787	EFO:0003334	\N	"" []	UBERON:6005436	"" []	581934	\N	\N	EFO	2	EFO	animal component	trunk mesoderm anlage
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6005436	"" []	1165981	\N	\N	EFO	3	EFO	anatomy basic component	trunk mesoderm anlage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6005436	"" []	2049904	\N	\N	EFO	4	EFO	organism part	trunk mesoderm anlage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6005436	"" []	3199880	\N	\N	EFO	5	EFO	material entity	trunk mesoderm anlage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6005436	"" []	4404960	\N	\N	EFO	6	EFO	experimental factor	trunk mesoderm anlage
UBERON:6005526	\N	\N	"" []	UBERON:6005526	"" []	80312	\N	\N	EFO	0	EFO	dorsal epidermis primordium	dorsal epidermis primordium
EFO:0000795	UBERON:6005526	\N	"Embryonic structure (body structure)" []	UBERON:6005526	"" []	225023	\N	\N	EFO	1	EFO	animal developmental tissue	dorsal epidermis primordium
EFO:0000787	EFO:0000795	\N	"" []	UBERON:6005526	"" []	581935	\N	\N	EFO	2	EFO	animal component	dorsal epidermis primordium
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6005526	"" []	1165982	\N	\N	EFO	3	EFO	anatomy basic component	dorsal epidermis primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6005526	"" []	2049905	\N	\N	EFO	4	EFO	organism part	dorsal epidermis primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6005526	"" []	3199881	\N	\N	EFO	5	EFO	material entity	dorsal epidermis primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6005526	"" []	4404961	\N	\N	EFO	6	EFO	experimental factor	dorsal epidermis primordium
UBERON:6005533	\N	\N	"" []	UBERON:6005533	"" []	80313	\N	\N	EFO	0	EFO	ventral epidermis primordium	ventral epidermis primordium
EFO:0003335	UBERON:6005533	\N	"" []	UBERON:6005533	"" []	225024	\N	\N	EFO	1	EFO	Drosophila embryonic structure	ventral epidermis primordium
EFO:0003334	EFO:0003335	\N	"" []	UBERON:6005533	"" []	581936	\N	\N	EFO	2	EFO	Drosophila component	ventral epidermis primordium
EFO:0000787	EFO:0003334	\N	"" []	UBERON:6005533	"" []	1165983	\N	\N	EFO	3	EFO	animal component	ventral epidermis primordium
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6005533	"" []	2049906	\N	\N	EFO	4	EFO	anatomy basic component	ventral epidermis primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6005533	"" []	3199882	\N	\N	EFO	5	EFO	organism part	ventral epidermis primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6005533	"" []	4404962	\N	\N	EFO	6	EFO	material entity	ventral epidermis primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6005533	"" []	5420295	\N	\N	EFO	7	EFO	experimental factor	ventral epidermis primordium
UBERON:6005538	\N	\N	"" []	UBERON:6005538	"" []	80314	\N	\N	EFO	0	EFO	clypeo-labral primordium	clypeo-labral primordium
EFO:0000795	UBERON:6005538	\N	"Embryonic structure (body structure)" []	UBERON:6005538	"" []	225025	\N	\N	EFO	1	EFO	animal developmental tissue	clypeo-labral primordium
EFO:0000787	EFO:0000795	\N	"" []	UBERON:6005538	"" []	581937	\N	\N	EFO	2	EFO	animal component	clypeo-labral primordium
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6005538	"" []	1165984	\N	\N	EFO	3	EFO	anatomy basic component	clypeo-labral primordium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6005538	"" []	2049907	\N	\N	EFO	4	EFO	organism part	clypeo-labral primordium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6005538	"" []	3199883	\N	\N	EFO	5	EFO	material entity	clypeo-labral primordium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6005538	"" []	4404963	\N	\N	EFO	6	EFO	experimental factor	clypeo-labral primordium
UBERON:6005831	\N	\N	"" []	UBERON:6005831	"" []	80315	\N	\N	EFO	0	EFO	dorsal imaginal precursor	dorsal imaginal precursor
EFO:0000795	UBERON:6005831	\N	"Embryonic structure (body structure)" []	UBERON:6005831	"" []	225026	\N	\N	EFO	1	EFO	animal developmental tissue	dorsal imaginal precursor
EFO:0000787	EFO:0000795	\N	"" []	UBERON:6005831	"" []	581938	\N	\N	EFO	2	EFO	animal component	dorsal imaginal precursor
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6005831	"" []	1165985	\N	\N	EFO	3	EFO	anatomy basic component	dorsal imaginal precursor
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6005831	"" []	2049908	\N	\N	EFO	4	EFO	organism part	dorsal imaginal precursor
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6005831	"" []	3199884	\N	\N	EFO	5	EFO	material entity	dorsal imaginal precursor
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6005831	"" []	4404964	\N	\N	EFO	6	EFO	experimental factor	dorsal imaginal precursor
UBERON:6007435	\N	\N	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:6007435	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	80316	\N	\N	EFO	0	EFO	endocrine system component	endocrine system component
EFO:0000787	UBERON:6007435	\N	"" []	UBERON:6007435	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	225027	\N	\N	EFO	1	EFO	animal component	endocrine system component
EFO:0000786	EFO:0000787	\N	"" []	UBERON:6007435	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	581939	\N	\N	EFO	2	EFO	anatomy basic component	endocrine system component
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	UBERON:6007435	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	1165986	\N	\N	EFO	3	EFO	organism part	endocrine system component
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	UBERON:6007435	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	2049909	\N	\N	EFO	4	EFO	material entity	endocrine system component
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UBERON:6007435	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	3199885	\N	\N	EFO	5	EFO	experimental factor	endocrine system component
UO:0000000	\N	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000000	"A unit of measurement is a standardized quantity of a physical quality." []	80317	\N	\N	EFO	0	EFO	unit	unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000000	"A unit of measurement is a standardized quantity of a physical quality." []	225028	\N	\N	EFO	1	EFO	information entity	unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000000	"A unit of measurement is a standardized quantity of a physical quality." []	581940	\N	\N	EFO	2	EFO	experimental factor	unit
UO:0000001	\N	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000001	"A unit which is a standard measure of the distance between two points." []	80318	\N	\N	EFO	0	EFO	length unit	length unit
UO:0000000	UO:0000001	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000001	"A unit which is a standard measure of the distance between two points." []	225029	\N	\N	EFO	1	EFO	unit	length unit
UO:0000045	UO:0000001	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000001	"A unit which is a standard measure of the distance between two points." []	225030	\N	\N	EFO	1	EFO	base unit	length unit
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000001	"A unit which is a standard measure of the distance between two points." []	581941	\N	\N	EFO	2	EFO	unit	length unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000001	"A unit which is a standard measure of the distance between two points." []	1165987	\N	\N	EFO	3	EFO	information entity	length unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000001	"A unit which is a standard measure of the distance between two points." []	2049910	\N	\N	EFO	4	EFO	experimental factor	length unit
UO:0000002	\N	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000002	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	80319	\N	\N	EFO	0	EFO	mass unit	mass unit
UO:0000000	UO:0000002	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000002	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	225031	\N	\N	EFO	1	EFO	unit	mass unit
UO:0000045	UO:0000002	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000002	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	225032	\N	\N	EFO	1	EFO	base unit	mass unit
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000002	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	581942	\N	\N	EFO	2	EFO	unit	mass unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000002	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	1165988	\N	\N	EFO	3	EFO	information entity	mass unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000002	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	2049911	\N	\N	EFO	4	EFO	experimental factor	mass unit
UO:0000003	\N	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000003	"A unit which is a standard measure of the dimension in which events occur in sequence." []	80320	\N	\N	EFO	0	EFO	time unit	time unit
UO:0000000	UO:0000003	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000003	"A unit which is a standard measure of the dimension in which events occur in sequence." []	225033	\N	\N	EFO	1	EFO	unit	time unit
UO:0000045	UO:0000003	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000003	"A unit which is a standard measure of the dimension in which events occur in sequence." []	225034	\N	\N	EFO	1	EFO	base unit	time unit
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000003	"A unit which is a standard measure of the dimension in which events occur in sequence." []	581943	\N	\N	EFO	2	EFO	unit	time unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000003	"A unit which is a standard measure of the dimension in which events occur in sequence." []	1165989	\N	\N	EFO	3	EFO	information entity	time unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000003	"A unit which is a standard measure of the dimension in which events occur in sequence." []	2049912	\N	\N	EFO	4	EFO	experimental factor	time unit
UO:0000004	\N	\N	"An electric current unit is a base unit which is a standard measure of the flow of electric charge." []	UO:0000004	"An electric current unit is a base unit which is a standard measure of the flow of electric charge." []	80321	\N	\N	EFO	0	EFO	electric current unit	electric current unit
UO:0000000	UO:0000004	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000004	"An electric current unit is a base unit which is a standard measure of the flow of electric charge." []	225035	\N	\N	EFO	1	EFO	unit	electric current unit
UO:0000045	UO:0000004	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000004	"An electric current unit is a base unit which is a standard measure of the flow of electric charge." []	225036	\N	\N	EFO	1	EFO	base unit	electric current unit
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000004	"An electric current unit is a base unit which is a standard measure of the flow of electric charge." []	581944	\N	\N	EFO	2	EFO	unit	electric current unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000004	"An electric current unit is a base unit which is a standard measure of the flow of electric charge." []	1165990	\N	\N	EFO	3	EFO	information entity	electric current unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000004	"An electric current unit is a base unit which is a standard measure of the flow of electric charge." []	2049913	\N	\N	EFO	4	EFO	experimental factor	electric current unit
UO:0000005	\N	\N	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	UO:0000005	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	80322	\N	\N	EFO	0	EFO	temperature unit	temperature unit
UO:0000000	UO:0000005	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000005	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	225037	\N	\N	EFO	1	EFO	unit	temperature unit
UO:0000045	UO:0000005	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000005	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	225038	\N	\N	EFO	1	EFO	base unit	temperature unit
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000005	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	581945	\N	\N	EFO	2	EFO	unit	temperature unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000005	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	1165991	\N	\N	EFO	3	EFO	information entity	temperature unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000005	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	2049914	\N	\N	EFO	4	EFO	experimental factor	temperature unit
UO:0000006	\N	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000006	"A unit which is a standardised quantity of an element or compound with uniform composition." []	80323	\N	\N	EFO	0	EFO	substance unit	substance unit
UO:0000000	UO:0000006	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000006	"A unit which is a standardised quantity of an element or compound with uniform composition." []	225039	\N	\N	EFO	1	EFO	unit	substance unit
UO:0000045	UO:0000006	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000006	"A unit which is a standardised quantity of an element or compound with uniform composition." []	225040	\N	\N	EFO	1	EFO	base unit	substance unit
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000006	"A unit which is a standardised quantity of an element or compound with uniform composition." []	581946	\N	\N	EFO	2	EFO	unit	substance unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000006	"A unit which is a standardised quantity of an element or compound with uniform composition." []	1165992	\N	\N	EFO	3	EFO	information entity	substance unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000006	"A unit which is a standardised quantity of an element or compound with uniform composition." []	2049915	\N	\N	EFO	4	EFO	experimental factor	substance unit
UO:0000007	\N	\N	"A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." []	UO:0000007	"A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." []	80324	\N	\N	EFO	0	EFO	luminous intensity unit	luminous intensity unit
UO:0000157	\N	\N	"A unit which is a standard measure of the intensity of light." [NIST:NIST]	UO:0000007	"A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." []	196359	\N	unit_group_slim	EFO	0	EFO	light unit	luminous intensity unit
UO:0000045	UO:0000007	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000007	"A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." []	225041	\N	\N	EFO	1	EFO	base unit	luminous intensity unit
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000007	"A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." []	581947	\N	\N	EFO	2	EFO	unit	luminous intensity unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000007	"A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." []	1165993	\N	\N	EFO	3	EFO	information entity	luminous intensity unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000007	"A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." []	2049916	\N	\N	EFO	4	EFO	experimental factor	luminous intensity unit
UO:0000008	\N	\N	"A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." []	UO:0000008	"A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." []	80325	\N	\N	EFO	0	EFO	meter	meter
UO:0000001	UO:0000008	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000008	"A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." []	225042	\N	\N	EFO	1	EFO	length unit	meter
UO:0000001	UO:0000008	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000008	"A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." []	225043	\N	\N	EFO	1	EFO	length unit	meter
UO:0000045	UO:0000008	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000008	"A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." []	225044	\N	\N	EFO	1	EFO	base unit	meter
UO:0000045	UO:0000001	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000008	"A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." []	581948	\N	\N	EFO	2	EFO	base unit	meter
UO:0000000	UO:0000001	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000008	"A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." []	581949	\N	\N	EFO	2	EFO	unit	meter
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000008	"A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." []	581950	\N	\N	EFO	2	EFO	unit	meter
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000008	"A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." []	1165994	\N	\N	EFO	3	EFO	unit	meter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000008	"A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." []	2049917	\N	\N	EFO	4	EFO	information entity	meter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000008	"A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second." []	3199886	\N	\N	EFO	5	EFO	experimental factor	meter
UO:0000009	\N	\N	"A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." []	UO:0000009	"A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." []	80326	\N	\N	EFO	0	EFO	kilogram	kilogram
UO:0000002	UO:0000009	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000009	"A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." []	225045	\N	\N	EFO	1	EFO	mass unit	kilogram
UO:0000002	UO:0000009	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000009	"A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." []	225046	\N	\N	EFO	1	EFO	mass unit	kilogram
UO:0000045	UO:0000009	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000009	"A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." []	225047	\N	\N	EFO	1	EFO	base unit	kilogram
UO:0000045	UO:0000002	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000009	"A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." []	581951	\N	\N	EFO	2	EFO	base unit	kilogram
UO:0000000	UO:0000002	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000009	"A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." []	581952	\N	\N	EFO	2	EFO	unit	kilogram
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000009	"A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." []	581953	\N	\N	EFO	2	EFO	unit	kilogram
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000009	"A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." []	1165995	\N	\N	EFO	3	EFO	unit	kilogram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000009	"A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." []	2049918	\N	\N	EFO	4	EFO	information entity	kilogram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000009	"A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." []	3199887	\N	\N	EFO	5	EFO	experimental factor	kilogram
UO:0000010	\N	\N	"A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." []	UO:0000010	"A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." []	80327	\N	\N	EFO	0	EFO	second	second
UO:0000003	UO:0000010	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000010	"A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." []	225048	\N	\N	EFO	1	EFO	time unit	second
UO:0000003	UO:0000010	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000010	"A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." []	225049	\N	\N	EFO	1	EFO	time unit	second
UO:0000045	UO:0000010	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000010	"A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." []	225050	\N	\N	EFO	1	EFO	base unit	second
UO:0000045	UO:0000003	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000010	"A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." []	581954	\N	\N	EFO	2	EFO	base unit	second
UO:0000000	UO:0000003	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000010	"A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." []	581955	\N	\N	EFO	2	EFO	unit	second
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000010	"A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." []	581956	\N	\N	EFO	2	EFO	unit	second
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000010	"A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." []	1165996	\N	\N	EFO	3	EFO	unit	second
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000010	"A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." []	2049919	\N	\N	EFO	4	EFO	information entity	second
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000010	"A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom." []	3199888	\N	\N	EFO	5	EFO	experimental factor	second
UO:0000011	\N	\N	"An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." []	UO:0000011	"An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." []	80328	\N	\N	EFO	0	EFO	ampere	ampere
UO:0000004	UO:0000011	\N	"An electric current unit is a base unit which is a standard measure of the flow of electric charge." []	UO:0000011	"An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." []	225051	\N	\N	EFO	1	EFO	electric current unit	ampere
UO:0000004	UO:0000011	\N	"An electric current unit is a base unit which is a standard measure of the flow of electric charge." []	UO:0000011	"An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." []	225052	\N	\N	EFO	1	EFO	electric current unit	ampere
UO:0000045	UO:0000011	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000011	"An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." []	225053	\N	\N	EFO	1	EFO	base unit	ampere
UO:0000045	UO:0000004	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000011	"An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." []	581957	\N	\N	EFO	2	EFO	base unit	ampere
UO:0000000	UO:0000004	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000011	"An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." []	581958	\N	\N	EFO	2	EFO	unit	ampere
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000011	"An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." []	581959	\N	\N	EFO	2	EFO	unit	ampere
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000011	"An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." []	1165997	\N	\N	EFO	3	EFO	unit	ampere
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000011	"An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." []	2049920	\N	\N	EFO	4	EFO	information entity	ampere
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000011	"An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length." []	3199889	\N	\N	EFO	5	EFO	experimental factor	ampere
UO:0000012	\N	\N	"A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." []	UO:0000012	"A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." []	80329	\N	\N	EFO	0	EFO	kelvin	kelvin
UO:0000005	UO:0000012	\N	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	UO:0000012	"A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." []	225054	\N	\N	EFO	1	EFO	temperature unit	kelvin
UO:0000005	UO:0000012	\N	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	UO:0000012	"A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." []	225055	\N	\N	EFO	1	EFO	temperature unit	kelvin
UO:0000045	UO:0000012	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000012	"A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." []	225056	\N	\N	EFO	1	EFO	base unit	kelvin
UO:0000045	UO:0000005	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000012	"A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." []	581960	\N	\N	EFO	2	EFO	base unit	kelvin
UO:0000000	UO:0000005	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000012	"A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." []	581961	\N	\N	EFO	2	EFO	unit	kelvin
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000012	"A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." []	581962	\N	\N	EFO	2	EFO	unit	kelvin
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000012	"A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." []	1165998	\N	\N	EFO	3	EFO	unit	kelvin
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000012	"A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." []	2049921	\N	\N	EFO	4	EFO	information entity	kelvin
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000012	"A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water." []	3199890	\N	\N	EFO	5	EFO	experimental factor	kelvin
UO:0000013	\N	\N	"A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." []	UO:0000013	"A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." []	80330	\N	\N	EFO	0	EFO	mole	mole
UO:0000006	UO:0000013	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000013	"A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." []	225057	\N	\N	EFO	1	EFO	substance unit	mole
UO:0000006	UO:0000013	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000013	"A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." []	225058	\N	\N	EFO	1	EFO	substance unit	mole
UO:0000045	UO:0000013	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000013	"A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." []	225059	\N	\N	EFO	1	EFO	base unit	mole
UO:0000045	UO:0000006	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000013	"A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." []	581963	\N	\N	EFO	2	EFO	base unit	mole
UO:0000000	UO:0000006	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000013	"A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." []	581964	\N	\N	EFO	2	EFO	unit	mole
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000013	"A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." []	581965	\N	\N	EFO	2	EFO	unit	mole
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000013	"A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." []	1165999	\N	\N	EFO	3	EFO	unit	mole
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000013	"A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." []	2049922	\N	\N	EFO	4	EFO	information entity	mole
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000013	"A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12." []	3199891	\N	\N	EFO	5	EFO	experimental factor	mole
UO:0000014	\N	\N	"A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." []	UO:0000014	"A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." []	80331	\N	\N	EFO	0	EFO	candela	candela
UO:0000007	UO:0000014	\N	"A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." []	UO:0000014	"A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." []	225060	\N	\N	EFO	1	EFO	luminous intensity unit	candela
UO:0000007	UO:0000014	\N	"A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction." []	UO:0000014	"A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." []	225061	\N	\N	EFO	1	EFO	luminous intensity unit	candela
UO:0000045	UO:0000014	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000014	"A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." []	225062	\N	\N	EFO	1	EFO	base unit	candela
UO:0000045	UO:0000007	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000014	"A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." []	581966	\N	\N	EFO	2	EFO	base unit	candela
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000014	"A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." []	581967	\N	\N	EFO	2	EFO	unit	candela
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000014	"A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." []	1166000	\N	\N	EFO	3	EFO	unit	candela
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000014	"A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." []	2049923	\N	\N	EFO	4	EFO	information entity	candela
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000014	"A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian." []	3199892	\N	\N	EFO	5	EFO	experimental factor	candela
UO:0000015	\N	\N	"A length unit which is equal to one hundredth of a meter or 10^[-2] m." []	UO:0000015	"A length unit which is equal to one hundredth of a meter or 10^[-2] m." []	80332	\N	\N	EFO	0	EFO	centimeter	centimeter
UO:0000001	UO:0000015	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000015	"A length unit which is equal to one hundredth of a meter or 10^[-2] m." []	225063	\N	\N	EFO	1	EFO	length unit	centimeter
UO:0000001	UO:0000015	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000015	"A length unit which is equal to one hundredth of a meter or 10^[-2] m." []	225064	\N	\N	EFO	1	EFO	length unit	centimeter
UO:0000045	UO:0000001	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000015	"A length unit which is equal to one hundredth of a meter or 10^[-2] m." []	581968	\N	\N	EFO	2	EFO	base unit	centimeter
UO:0000000	UO:0000001	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000015	"A length unit which is equal to one hundredth of a meter or 10^[-2] m." []	581969	\N	\N	EFO	2	EFO	unit	centimeter
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000015	"A length unit which is equal to one hundredth of a meter or 10^[-2] m." []	1166001	\N	\N	EFO	3	EFO	unit	centimeter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000015	"A length unit which is equal to one hundredth of a meter or 10^[-2] m." []	2049924	\N	\N	EFO	4	EFO	information entity	centimeter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000015	"A length unit which is equal to one hundredth of a meter or 10^[-2] m." []	3199893	\N	\N	EFO	5	EFO	experimental factor	centimeter
UO:0000016	\N	\N	"A millimeter is a length unit which is equal to one thousandth of a meter or 10^-3 m." []	UO:0000016	"A millimeter is a length unit which is equal to one thousandth of a meter or 10^-3 m." []	80333	\N	\N	EFO	0	EFO	millimeter	millimeter
UO:0000001	UO:0000016	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000016	"A millimeter is a length unit which is equal to one thousandth of a meter or 10^-3 m." []	225065	\N	\N	EFO	1	EFO	length unit	millimeter
UO:0000001	UO:0000016	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000016	"A millimeter is a length unit which is equal to one thousandth of a meter or 10^-3 m." []	225066	\N	\N	EFO	1	EFO	length unit	millimeter
UO:0000045	UO:0000001	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000016	"A millimeter is a length unit which is equal to one thousandth of a meter or 10^-3 m." []	581970	\N	\N	EFO	2	EFO	base unit	millimeter
UO:0000000	UO:0000001	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000016	"A millimeter is a length unit which is equal to one thousandth of a meter or 10^-3 m." []	581971	\N	\N	EFO	2	EFO	unit	millimeter
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000016	"A millimeter is a length unit which is equal to one thousandth of a meter or 10^-3 m." []	1166002	\N	\N	EFO	3	EFO	unit	millimeter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000016	"A millimeter is a length unit which is equal to one thousandth of a meter or 10^-3 m." []	2049925	\N	\N	EFO	4	EFO	information entity	millimeter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000016	"A millimeter is a length unit which is equal to one thousandth of a meter or 10^-3 m." []	3199894	\N	\N	EFO	5	EFO	experimental factor	millimeter
UO:0000017	\N	\N	"A micrometer is a length unit which is equal to 1m x 10^-6." []	UO:0000017	"A micrometer is a length unit which is equal to 1m x 10^-6." []	80334	\N	\N	EFO	0	EFO	micrometer	micrometer
UO:0000001	UO:0000017	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000017	"A micrometer is a length unit which is equal to 1m x 10^-6." []	225067	\N	\N	EFO	1	EFO	length unit	micrometer
UO:0000001	UO:0000017	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000017	"A micrometer is a length unit which is equal to 1m x 10^-6." []	225068	\N	\N	EFO	1	EFO	length unit	micrometer
UO:0000045	UO:0000001	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000017	"A micrometer is a length unit which is equal to 1m x 10^-6." []	581972	\N	\N	EFO	2	EFO	base unit	micrometer
UO:0000000	UO:0000001	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000017	"A micrometer is a length unit which is equal to 1m x 10^-6." []	581973	\N	\N	EFO	2	EFO	unit	micrometer
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000017	"A micrometer is a length unit which is equal to 1m x 10^-6." []	1166003	\N	\N	EFO	3	EFO	unit	micrometer
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000017	"A micrometer is a length unit which is equal to 1m x 10^-6." []	2049926	\N	\N	EFO	4	EFO	information entity	micrometer
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000017	"A micrometer is a length unit which is equal to 1m x 10^-6." []	3199895	\N	\N	EFO	5	EFO	experimental factor	micrometer
UO:0000018	\N	\N	"A nanometer is a length unit which is equal to 1m x 10^-9." []	UO:0000018	"A nanometer is a length unit which is equal to 1m x 10^-9." []	80335	\N	\N	EFO	0	EFO	nanometer	nanometer
UO:0000001	UO:0000018	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000018	"A nanometer is a length unit which is equal to 1m x 10^-9." []	225069	\N	\N	EFO	1	EFO	length unit	nanometer
UO:0000001	UO:0000018	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000018	"A nanometer is a length unit which is equal to 1m x 10^-9." []	225070	\N	\N	EFO	1	EFO	length unit	nanometer
UO:0000045	UO:0000001	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000018	"A nanometer is a length unit which is equal to 1m x 10^-9." []	581974	\N	\N	EFO	2	EFO	base unit	nanometer
UO:0000000	UO:0000001	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000018	"A nanometer is a length unit which is equal to 1m x 10^-9." []	581975	\N	\N	EFO	2	EFO	unit	nanometer
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000018	"A nanometer is a length unit which is equal to 1m x 10^-9." []	1166004	\N	\N	EFO	3	EFO	unit	nanometer
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000018	"A nanometer is a length unit which is equal to 1m x 10^-9." []	2049927	\N	\N	EFO	4	EFO	information entity	nanometer
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000018	"A nanometer is a length unit which is equal to 1m x 10^-9." []	3199896	\N	\N	EFO	5	EFO	experimental factor	nanometer
UO:0000020	\N	\N	"A picometer is a length unit which is equal to 1m x 10^-12." []	UO:0000020	"A picometer is a length unit which is equal to 1m x 10^-12." []	80336	\N	\N	EFO	0	EFO	picometer	picometer
UO:0000001	UO:0000020	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000020	"A picometer is a length unit which is equal to 1m x 10^-12." []	225071	\N	\N	EFO	1	EFO	length unit	picometer
UO:0000001	UO:0000020	\N	"A unit which is a standard measure of the distance between two points." []	UO:0000020	"A picometer is a length unit which is equal to 1m x 10^-12." []	225072	\N	\N	EFO	1	EFO	length unit	picometer
UO:0000045	UO:0000001	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000020	"A picometer is a length unit which is equal to 1m x 10^-12." []	581976	\N	\N	EFO	2	EFO	base unit	picometer
UO:0000000	UO:0000001	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000020	"A picometer is a length unit which is equal to 1m x 10^-12." []	581977	\N	\N	EFO	2	EFO	unit	picometer
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000020	"A picometer is a length unit which is equal to 1m x 10^-12." []	1166005	\N	\N	EFO	3	EFO	unit	picometer
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000020	"A picometer is a length unit which is equal to 1m x 10^-12." []	2049928	\N	\N	EFO	4	EFO	information entity	picometer
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000020	"A picometer is a length unit which is equal to 1m x 10^-12." []	3199897	\N	\N	EFO	5	EFO	experimental factor	picometer
UO:0000021	\N	\N	"A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg." []	UO:0000021	"A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg." []	80337	\N	\N	EFO	0	EFO	gram	gram
UO:0000002	UO:0000021	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000021	"A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg." []	225073	\N	\N	EFO	1	EFO	mass unit	gram
UO:0000002	UO:0000021	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000021	"A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg." []	225074	\N	\N	EFO	1	EFO	mass unit	gram
UO:0000045	UO:0000002	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000021	"A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg." []	581978	\N	\N	EFO	2	EFO	base unit	gram
UO:0000000	UO:0000002	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000021	"A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg." []	581979	\N	\N	EFO	2	EFO	unit	gram
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000021	"A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg." []	1166006	\N	\N	EFO	3	EFO	unit	gram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000021	"A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg." []	2049929	\N	\N	EFO	4	EFO	information entity	gram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000021	"A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg." []	3199898	\N	\N	EFO	5	EFO	experimental factor	gram
UO:0000022	\N	\N	"A milligram is a mass unit which is equal to one-millionth of a kilogram." []	UO:0000022	"A milligram is a mass unit which is equal to one-millionth of a kilogram." []	80338	\N	\N	EFO	0	EFO	milligram	milligram
UO:0000002	UO:0000022	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000022	"A milligram is a mass unit which is equal to one-millionth of a kilogram." []	225075	\N	\N	EFO	1	EFO	mass unit	milligram
UO:0000002	UO:0000022	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000022	"A milligram is a mass unit which is equal to one-millionth of a kilogram." []	225076	\N	\N	EFO	1	EFO	mass unit	milligram
UO:0000045	UO:0000002	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000022	"A milligram is a mass unit which is equal to one-millionth of a kilogram." []	581980	\N	\N	EFO	2	EFO	base unit	milligram
UO:0000000	UO:0000002	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000022	"A milligram is a mass unit which is equal to one-millionth of a kilogram." []	581981	\N	\N	EFO	2	EFO	unit	milligram
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000022	"A milligram is a mass unit which is equal to one-millionth of a kilogram." []	1166007	\N	\N	EFO	3	EFO	unit	milligram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000022	"A milligram is a mass unit which is equal to one-millionth of a kilogram." []	2049930	\N	\N	EFO	4	EFO	information entity	milligram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000022	"A milligram is a mass unit which is equal to one-millionth of a kilogram." []	3199899	\N	\N	EFO	5	EFO	experimental factor	milligram
UO:0000023	\N	\N	"A microgram is a mass unit which is equal to 1 gram x 10^-6" []	UO:0000023	"A microgram is a mass unit which is equal to 1 gram x 10^-6" []	80339	\N	\N	EFO	0	EFO	microgram	microgram
UO:0000002	UO:0000023	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000023	"A microgram is a mass unit which is equal to 1 gram x 10^-6" []	225077	\N	\N	EFO	1	EFO	mass unit	microgram
UO:0000002	UO:0000023	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000023	"A microgram is a mass unit which is equal to 1 gram x 10^-6" []	225078	\N	\N	EFO	1	EFO	mass unit	microgram
UO:0000045	UO:0000002	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000023	"A microgram is a mass unit which is equal to 1 gram x 10^-6" []	581982	\N	\N	EFO	2	EFO	base unit	microgram
UO:0000000	UO:0000002	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000023	"A microgram is a mass unit which is equal to 1 gram x 10^-6" []	581983	\N	\N	EFO	2	EFO	unit	microgram
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000023	"A microgram is a mass unit which is equal to 1 gram x 10^-6" []	1166008	\N	\N	EFO	3	EFO	unit	microgram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000023	"A microgram is a mass unit which is equal to 1 gram x 10^-6" []	2049931	\N	\N	EFO	4	EFO	information entity	microgram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000023	"A microgram is a mass unit which is equal to 1 gram x 10^-6" []	3199900	\N	\N	EFO	5	EFO	experimental factor	microgram
UO:0000024	\N	\N	"A microgram is a mass unit which is equal to 1 gram x 10^-9" []	UO:0000024	"A microgram is a mass unit which is equal to 1 gram x 10^-9" []	80340	\N	\N	EFO	0	EFO	nanogram	nanogram
UO:0000002	UO:0000024	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000024	"A microgram is a mass unit which is equal to 1 gram x 10^-9" []	225079	\N	\N	EFO	1	EFO	mass unit	nanogram
UO:0000002	UO:0000024	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000024	"A microgram is a mass unit which is equal to 1 gram x 10^-9" []	225080	\N	\N	EFO	1	EFO	mass unit	nanogram
UO:0000045	UO:0000002	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000024	"A microgram is a mass unit which is equal to 1 gram x 10^-9" []	581984	\N	\N	EFO	2	EFO	base unit	nanogram
UO:0000000	UO:0000002	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000024	"A microgram is a mass unit which is equal to 1 gram x 10^-9" []	581985	\N	\N	EFO	2	EFO	unit	nanogram
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000024	"A microgram is a mass unit which is equal to 1 gram x 10^-9" []	1166009	\N	\N	EFO	3	EFO	unit	nanogram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000024	"A microgram is a mass unit which is equal to 1 gram x 10^-9" []	2049932	\N	\N	EFO	4	EFO	information entity	nanogram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000024	"A microgram is a mass unit which is equal to 1 gram x 10^-9" []	3199901	\N	\N	EFO	5	EFO	experimental factor	nanogram
UO:0000025	\N	\N	"A picogram is a mass unit which is equal to 1 gram x 10^-12" []	UO:0000025	"A picogram is a mass unit which is equal to 1 gram x 10^-12" []	80341	\N	\N	EFO	0	EFO	picogram	picogram
UO:0000002	UO:0000025	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000025	"A picogram is a mass unit which is equal to 1 gram x 10^-12" []	225081	\N	\N	EFO	1	EFO	mass unit	picogram
UO:0000002	UO:0000025	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000025	"A picogram is a mass unit which is equal to 1 gram x 10^-12" []	225082	\N	\N	EFO	1	EFO	mass unit	picogram
UO:0000045	UO:0000002	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000025	"A picogram is a mass unit which is equal to 1 gram x 10^-12" []	581986	\N	\N	EFO	2	EFO	base unit	picogram
UO:0000000	UO:0000002	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000025	"A picogram is a mass unit which is equal to 1 gram x 10^-12" []	581987	\N	\N	EFO	2	EFO	unit	picogram
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000025	"A picogram is a mass unit which is equal to 1 gram x 10^-12" []	1166010	\N	\N	EFO	3	EFO	unit	picogram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000025	"A picogram is a mass unit which is equal to 1 gram x 10^-12" []	2049933	\N	\N	EFO	4	EFO	information entity	picogram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000025	"A picogram is a mass unit which is equal to 1 gram x 10^-12" []	3199902	\N	\N	EFO	5	EFO	experimental factor	picogram
UO:0000026	\N	\N	"A microgram is a mass unit which is equal to 1 gram x 10^-15" []	UO:0000026	"A microgram is a mass unit which is equal to 1 gram x 10^-15" []	80342	\N	\N	EFO	0	EFO	femtogram	femtogram
UO:0000002	UO:0000026	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000026	"A microgram is a mass unit which is equal to 1 gram x 10^-15" []	225083	\N	\N	EFO	1	EFO	mass unit	femtogram
UO:0000002	UO:0000026	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000026	"A microgram is a mass unit which is equal to 1 gram x 10^-15" []	225084	\N	\N	EFO	1	EFO	mass unit	femtogram
UO:0000045	UO:0000002	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000026	"A microgram is a mass unit which is equal to 1 gram x 10^-15" []	581988	\N	\N	EFO	2	EFO	base unit	femtogram
UO:0000000	UO:0000002	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000026	"A microgram is a mass unit which is equal to 1 gram x 10^-15" []	581989	\N	\N	EFO	2	EFO	unit	femtogram
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000026	"A microgram is a mass unit which is equal to 1 gram x 10^-15" []	1166011	\N	\N	EFO	3	EFO	unit	femtogram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000026	"A microgram is a mass unit which is equal to 1 gram x 10^-15" []	2049934	\N	\N	EFO	4	EFO	information entity	femtogram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000026	"A microgram is a mass unit which is equal to 1 gram x 10^-15" []	3199903	\N	\N	EFO	5	EFO	experimental factor	femtogram
UO:0000027	\N	\N	"Degree celsius is a temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." []	UO:0000027	"Degree celsius is a temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." []	80343	\N	\N	EFO	0	EFO	degree celsius	degree celsius
UO:0000005	UO:0000027	\N	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	UO:0000027	"Degree celsius is a temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." []	225085	\N	\N	EFO	1	EFO	temperature unit	degree celsius
UO:0000126	UO:0000027	\N	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	UO:0000027	"Degree celsius is a temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." []	225086	\N	\N	EFO	1	EFO	derived temperature unit	degree celsius
UO:0000000	UO:0000005	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000027	"Degree celsius is a temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." []	581990	\N	\N	EFO	2	EFO	unit	degree celsius
UO:0000046	UO:0000126	\N	"A unit which is derived from base units." []	UO:0000027	"Degree celsius is a temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." []	581991	\N	\N	EFO	2	EFO	derived unit	degree celsius
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000027	"Degree celsius is a temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." []	1166012	\N	\N	EFO	3	EFO	unit	degree celsius
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000027	"Degree celsius is a temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." []	2049935	\N	\N	EFO	4	EFO	information entity	degree celsius
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000027	"Degree celsius is a temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K." []	3199904	\N	\N	EFO	5	EFO	experimental factor	degree celsius
UO:0000029	\N	\N	"A time unit which is equal to one millionth of a second or 10^[-6] s." []	UO:0000029	"A time unit which is equal to one millionth of a second or 10^[-6] s." []	80344	\N	\N	EFO	0	EFO	microsecond	microsecond
UO:0000003	UO:0000029	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000029	"A time unit which is equal to one millionth of a second or 10^[-6] s." []	225087	\N	\N	EFO	1	EFO	time unit	microsecond
UO:0000003	UO:0000029	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000029	"A time unit which is equal to one millionth of a second or 10^[-6] s." []	225088	\N	\N	EFO	1	EFO	time unit	microsecond
UO:0000045	UO:0000003	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000029	"A time unit which is equal to one millionth of a second or 10^[-6] s." []	581992	\N	\N	EFO	2	EFO	base unit	microsecond
UO:0000000	UO:0000003	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000029	"A time unit which is equal to one millionth of a second or 10^[-6] s." []	581993	\N	\N	EFO	2	EFO	unit	microsecond
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000029	"A time unit which is equal to one millionth of a second or 10^[-6] s." []	1166013	\N	\N	EFO	3	EFO	unit	microsecond
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000029	"A time unit which is equal to one millionth of a second or 10^[-6] s." []	2049936	\N	\N	EFO	4	EFO	information entity	microsecond
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000029	"A time unit which is equal to one millionth of a second or 10^[-6] s." []	3199905	\N	\N	EFO	5	EFO	experimental factor	microsecond
UO:0000031	\N	\N	"A time unit which is equal to 60 seconds." []	UO:0000031	"A time unit which is equal to 60 seconds." []	80345	\N	\N	EFO	0	EFO	minute	minute
UO:0000003	UO:0000031	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000031	"A time unit which is equal to 60 seconds." []	225089	\N	\N	EFO	1	EFO	time unit	minute
UO:0000149	UO:0000031	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000031	"A time unit which is equal to 60 seconds." []	225090	\N	\N	EFO	1	EFO	derived time unit	minute
UO:0000000	UO:0000003	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000031	"A time unit which is equal to 60 seconds." []	581994	\N	\N	EFO	2	EFO	unit	minute
UO:0000046	UO:0000149	\N	"A unit which is derived from base units." []	UO:0000031	"A time unit which is equal to 60 seconds." []	581995	\N	\N	EFO	2	EFO	derived unit	minute
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000031	"A time unit which is equal to 60 seconds." []	1166014	\N	\N	EFO	3	EFO	unit	minute
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000031	"A time unit which is equal to 60 seconds." []	2049937	\N	\N	EFO	4	EFO	information entity	minute
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000031	"A time unit which is equal to 60 seconds." []	3199906	\N	\N	EFO	5	EFO	experimental factor	minute
UO:0000032	\N	\N	"An hour is a derived time unit which is equal to 3600 seconds or 60 minutes." []	UO:0000032	"An hour is a derived time unit which is equal to 3600 seconds or 60 minutes." []	80346	\N	\N	EFO	0	EFO	hour	hour
UO:0000003	UO:0000032	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000032	"An hour is a derived time unit which is equal to 3600 seconds or 60 minutes." []	225091	\N	\N	EFO	1	EFO	time unit	hour
UO:0000149	UO:0000032	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000032	"An hour is a derived time unit which is equal to 3600 seconds or 60 minutes." []	225092	\N	\N	EFO	1	EFO	derived time unit	hour
UO:0000000	UO:0000003	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000032	"An hour is a derived time unit which is equal to 3600 seconds or 60 minutes." []	581996	\N	\N	EFO	2	EFO	unit	hour
UO:0000046	UO:0000149	\N	"A unit which is derived from base units." []	UO:0000032	"An hour is a derived time unit which is equal to 3600 seconds or 60 minutes." []	581997	\N	\N	EFO	2	EFO	derived unit	hour
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000032	"An hour is a derived time unit which is equal to 3600 seconds or 60 minutes." []	1166015	\N	\N	EFO	3	EFO	unit	hour
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000032	"An hour is a derived time unit which is equal to 3600 seconds or 60 minutes." []	2049938	\N	\N	EFO	4	EFO	information entity	hour
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000032	"An hour is a derived time unit which is equal to 3600 seconds or 60 minutes." []	3199907	\N	\N	EFO	5	EFO	experimental factor	hour
UO:0000033	\N	\N	"A time unit which is equal to 24 hours." []	UO:0000033	"A time unit which is equal to 24 hours." []	80347	\N	\N	EFO	0	EFO	day	day
UO:0000003	UO:0000033	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000033	"A time unit which is equal to 24 hours." []	225093	\N	\N	EFO	1	EFO	time unit	day
UO:0000149	UO:0000033	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000033	"A time unit which is equal to 24 hours." []	225094	\N	\N	EFO	1	EFO	derived time unit	day
UO:0000000	UO:0000003	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000033	"A time unit which is equal to 24 hours." []	581998	\N	\N	EFO	2	EFO	unit	day
UO:0000046	UO:0000149	\N	"A unit which is derived from base units." []	UO:0000033	"A time unit which is equal to 24 hours." []	581999	\N	\N	EFO	2	EFO	derived unit	day
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000033	"A time unit which is equal to 24 hours." []	1166016	\N	\N	EFO	3	EFO	unit	day
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000033	"A time unit which is equal to 24 hours." []	2049939	\N	\N	EFO	4	EFO	information entity	day
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000033	"A time unit which is equal to 24 hours." []	3199908	\N	\N	EFO	5	EFO	experimental factor	day
UO:0000034	\N	\N	"A week is a derived time unit which is equal to 7 days." []	UO:0000034	"A week is a derived time unit which is equal to 7 days." []	80348	\N	\N	EFO	0	EFO	week	week
UO:0000003	UO:0000034	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000034	"A week is a derived time unit which is equal to 7 days." []	225095	\N	\N	EFO	1	EFO	time unit	week
UO:0000149	UO:0000034	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000034	"A week is a derived time unit which is equal to 7 days." []	225096	\N	\N	EFO	1	EFO	derived time unit	week
UO:0000000	UO:0000003	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000034	"A week is a derived time unit which is equal to 7 days." []	582000	\N	\N	EFO	2	EFO	unit	week
UO:0000046	UO:0000149	\N	"A unit which is derived from base units." []	UO:0000034	"A week is a derived time unit which is equal to 7 days." []	582001	\N	\N	EFO	2	EFO	derived unit	week
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000034	"A week is a derived time unit which is equal to 7 days." []	1166017	\N	\N	EFO	3	EFO	unit	week
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000034	"A week is a derived time unit which is equal to 7 days." []	2049940	\N	\N	EFO	4	EFO	information entity	week
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000034	"A week is a derived time unit which is equal to 7 days." []	3199909	\N	\N	EFO	5	EFO	experimental factor	week
UO:0000035	\N	\N	"A month is a derived time unit which is approximately equal to the length of time of one of cycle of the moon's phases which in science is taken to be equal to 30 days. [ http://en.wikipedia.org/wiki/Wikipedia ]" []	UO:0000035	"A month is a derived time unit which is approximately equal to the length of time of one of cycle of the moon's phases which in science is taken to be equal to 30 days. [ http://en.wikipedia.org/wiki/Wikipedia ]" []	80349	\N	\N	EFO	0	EFO	month	month
UO:0000003	UO:0000035	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000035	"A month is a derived time unit which is approximately equal to the length of time of one of cycle of the moon's phases which in science is taken to be equal to 30 days. [ http://en.wikipedia.org/wiki/Wikipedia ]" []	225097	\N	\N	EFO	1	EFO	time unit	month
UO:0000149	UO:0000035	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000035	"A month is a derived time unit which is approximately equal to the length of time of one of cycle of the moon's phases which in science is taken to be equal to 30 days. [ http://en.wikipedia.org/wiki/Wikipedia ]" []	225098	\N	\N	EFO	1	EFO	derived time unit	month
UO:0000000	UO:0000003	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000035	"A month is a derived time unit which is approximately equal to the length of time of one of cycle of the moon's phases which in science is taken to be equal to 30 days. [ http://en.wikipedia.org/wiki/Wikipedia ]" []	582002	\N	\N	EFO	2	EFO	unit	month
UO:0000046	UO:0000149	\N	"A unit which is derived from base units." []	UO:0000035	"A month is a derived time unit which is approximately equal to the length of time of one of cycle of the moon's phases which in science is taken to be equal to 30 days. [ http://en.wikipedia.org/wiki/Wikipedia ]" []	582003	\N	\N	EFO	2	EFO	derived unit	month
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000035	"A month is a derived time unit which is approximately equal to the length of time of one of cycle of the moon's phases which in science is taken to be equal to 30 days. [ http://en.wikipedia.org/wiki/Wikipedia ]" []	1166018	\N	\N	EFO	3	EFO	unit	month
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000035	"A month is a derived time unit which is approximately equal to the length of time of one of cycle of the moon's phases which in science is taken to be equal to 30 days. [ http://en.wikipedia.org/wiki/Wikipedia ]" []	2049941	\N	\N	EFO	4	EFO	information entity	month
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000035	"A month is a derived time unit which is approximately equal to the length of time of one of cycle of the moon's phases which in science is taken to be equal to 30 days. [ http://en.wikipedia.org/wiki/Wikipedia ]" []	3199910	\N	\N	EFO	5	EFO	experimental factor	month
UO:0000036	\N	\N	"A year is a derived time unit which is equal to 365.25 days." []	UO:0000036	"A year is a derived time unit which is equal to 365.25 days." []	80350	\N	\N	EFO	0	EFO	year	year
UO:0000003	UO:0000036	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000036	"A year is a derived time unit which is equal to 365.25 days." []	225099	\N	\N	EFO	1	EFO	time unit	year
UO:0000149	UO:0000036	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000036	"A year is a derived time unit which is equal to 365.25 days." []	225100	\N	\N	EFO	1	EFO	derived time unit	year
UO:0000000	UO:0000003	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000036	"A year is a derived time unit which is equal to 365.25 days." []	582004	\N	\N	EFO	2	EFO	unit	year
UO:0000046	UO:0000149	\N	"A unit which is derived from base units." []	UO:0000036	"A year is a derived time unit which is equal to 365.25 days." []	582005	\N	\N	EFO	2	EFO	derived unit	year
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000036	"A year is a derived time unit which is equal to 365.25 days." []	1166019	\N	\N	EFO	3	EFO	unit	year
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000036	"A year is a derived time unit which is equal to 365.25 days." []	2049942	\N	\N	EFO	4	EFO	information entity	year
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000036	"A year is a derived time unit which is equal to 365.25 days." []	3199911	\N	\N	EFO	5	EFO	experimental factor	year
UO:0000039	\N	\N	"A substance unit equal to a millionth of a mol or 10^[-6] mol." []	UO:0000039	"A substance unit equal to a millionth of a mol or 10^[-6] mol." []	80351	\N	\N	EFO	0	EFO	micromole	micromole
UO:0000006	UO:0000039	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000039	"A substance unit equal to a millionth of a mol or 10^[-6] mol." []	225101	\N	\N	EFO	1	EFO	substance unit	micromole
UO:0000006	UO:0000039	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000039	"A substance unit equal to a millionth of a mol or 10^[-6] mol." []	225102	\N	\N	EFO	1	EFO	substance unit	micromole
UO:0000045	UO:0000006	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000039	"A substance unit equal to a millionth of a mol or 10^[-6] mol." []	582006	\N	\N	EFO	2	EFO	base unit	micromole
UO:0000000	UO:0000006	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000039	"A substance unit equal to a millionth of a mol or 10^[-6] mol." []	582007	\N	\N	EFO	2	EFO	unit	micromole
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000039	"A substance unit equal to a millionth of a mol or 10^[-6] mol." []	1166020	\N	\N	EFO	3	EFO	unit	micromole
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000039	"A substance unit equal to a millionth of a mol or 10^[-6] mol." []	2049943	\N	\N	EFO	4	EFO	information entity	micromole
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000039	"A substance unit equal to a millionth of a mol or 10^[-6] mol." []	3199912	\N	\N	EFO	5	EFO	experimental factor	micromole
UO:0000040	\N	\N	"A substance unit equal to a thousandth of a mol or 10^[-3] mol." []	UO:0000040	"A substance unit equal to a thousandth of a mol or 10^[-3] mol." []	80352	\N	\N	EFO	0	EFO	millimole	millimole
UO:0000006	UO:0000040	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000040	"A substance unit equal to a thousandth of a mol or 10^[-3] mol." []	225103	\N	\N	EFO	1	EFO	substance unit	millimole
UO:0000006	UO:0000040	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000040	"A substance unit equal to a thousandth of a mol or 10^[-3] mol." []	225104	\N	\N	EFO	1	EFO	substance unit	millimole
UO:0000045	UO:0000006	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000040	"A substance unit equal to a thousandth of a mol or 10^[-3] mol." []	582008	\N	\N	EFO	2	EFO	base unit	millimole
UO:0000000	UO:0000006	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000040	"A substance unit equal to a thousandth of a mol or 10^[-3] mol." []	582009	\N	\N	EFO	2	EFO	unit	millimole
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000040	"A substance unit equal to a thousandth of a mol or 10^[-3] mol." []	1166021	\N	\N	EFO	3	EFO	unit	millimole
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000040	"A substance unit equal to a thousandth of a mol or 10^[-3] mol." []	2049944	\N	\N	EFO	4	EFO	information entity	millimole
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000040	"A substance unit equal to a thousandth of a mol or 10^[-3] mol." []	3199913	\N	\N	EFO	5	EFO	experimental factor	millimole
UO:0000041	\N	\N	"A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol." []	UO:0000041	"A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol." []	80353	\N	\N	EFO	0	EFO	nanomole	nanomole
UO:0000006	UO:0000041	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000041	"A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol." []	225105	\N	\N	EFO	1	EFO	substance unit	nanomole
UO:0000006	UO:0000041	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000041	"A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol." []	225106	\N	\N	EFO	1	EFO	substance unit	nanomole
UO:0000045	UO:0000006	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000041	"A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol." []	582010	\N	\N	EFO	2	EFO	base unit	nanomole
UO:0000000	UO:0000006	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000041	"A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol." []	582011	\N	\N	EFO	2	EFO	unit	nanomole
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000041	"A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol." []	1166022	\N	\N	EFO	3	EFO	unit	nanomole
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000041	"A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol." []	2049945	\N	\N	EFO	4	EFO	information entity	nanomole
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000041	"A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol." []	3199914	\N	\N	EFO	5	EFO	experimental factor	nanomole
UO:0000042	\N	\N	"A substance unit equal to 10^[-12] mol." []	UO:0000042	"A substance unit equal to 10^[-12] mol." []	80354	\N	\N	EFO	0	EFO	picomole	picomole
UO:0000006	UO:0000042	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000042	"A substance unit equal to 10^[-12] mol." []	225107	\N	\N	EFO	1	EFO	substance unit	picomole
UO:0000006	UO:0000042	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000042	"A substance unit equal to 10^[-12] mol." []	225108	\N	\N	EFO	1	EFO	substance unit	picomole
UO:0000045	UO:0000006	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000042	"A substance unit equal to 10^[-12] mol." []	582012	\N	\N	EFO	2	EFO	base unit	picomole
UO:0000000	UO:0000006	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000042	"A substance unit equal to 10^[-12] mol." []	582013	\N	\N	EFO	2	EFO	unit	picomole
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000042	"A substance unit equal to 10^[-12] mol." []	1166023	\N	\N	EFO	3	EFO	unit	picomole
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000042	"A substance unit equal to 10^[-12] mol." []	2049946	\N	\N	EFO	4	EFO	information entity	picomole
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000042	"A substance unit equal to 10^[-12] mol." []	3199915	\N	\N	EFO	5	EFO	experimental factor	picomole
UO:0000043	\N	\N	"A substance unit equal to 10^[-15] mol." []	UO:0000043	"A substance unit equal to 10^[-15] mol." []	80355	\N	\N	EFO	0	EFO	femtomole	femtomole
UO:0000006	UO:0000043	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000043	"A substance unit equal to 10^[-15] mol." []	225109	\N	\N	EFO	1	EFO	substance unit	femtomole
UO:0000006	UO:0000043	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000043	"A substance unit equal to 10^[-15] mol." []	225110	\N	\N	EFO	1	EFO	substance unit	femtomole
UO:0000045	UO:0000006	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000043	"A substance unit equal to 10^[-15] mol." []	582014	\N	\N	EFO	2	EFO	base unit	femtomole
UO:0000000	UO:0000006	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000043	"A substance unit equal to 10^[-15] mol." []	582015	\N	\N	EFO	2	EFO	unit	femtomole
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000043	"A substance unit equal to 10^[-15] mol." []	1166024	\N	\N	EFO	3	EFO	unit	femtomole
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000043	"A substance unit equal to 10^[-15] mol." []	2049947	\N	\N	EFO	4	EFO	information entity	femtomole
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000043	"A substance unit equal to 10^[-15] mol." []	3199916	\N	\N	EFO	5	EFO	experimental factor	femtomole
UO:0000044	\N	\N	"An attomole is a substance unit equal to 10^-18 mol." []	UO:0000044	"An attomole is a substance unit equal to 10^-18 mol." []	80356	\N	\N	EFO	0	EFO	attomole	attomole
UO:0000006	UO:0000044	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000044	"An attomole is a substance unit equal to 10^-18 mol." []	225111	\N	\N	EFO	1	EFO	substance unit	attomole
UO:0000006	UO:0000044	\N	"A unit which is a standardised quantity of an element or compound with uniform composition." []	UO:0000044	"An attomole is a substance unit equal to 10^-18 mol." []	225112	\N	\N	EFO	1	EFO	substance unit	attomole
UO:0000045	UO:0000006	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000044	"An attomole is a substance unit equal to 10^-18 mol." []	582016	\N	\N	EFO	2	EFO	base unit	attomole
UO:0000000	UO:0000006	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000044	"An attomole is a substance unit equal to 10^-18 mol." []	582017	\N	\N	EFO	2	EFO	unit	attomole
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000044	"An attomole is a substance unit equal to 10^-18 mol." []	1166025	\N	\N	EFO	3	EFO	unit	attomole
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000044	"An attomole is a substance unit equal to 10^-18 mol." []	2049948	\N	\N	EFO	4	EFO	information entity	attomole
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000044	"An attomole is a substance unit equal to 10^-18 mol." []	3199917	\N	\N	EFO	5	EFO	experimental factor	attomole
UO:0000045	\N	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000045	"A unit which is one of a particular measure to which all measures of that type can be related." []	80357	\N	\N	EFO	0	EFO	base unit	base unit
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000045	"A unit which is one of a particular measure to which all measures of that type can be related." []	225113	\N	\N	EFO	1	EFO	unit	base unit
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000045	"A unit which is one of a particular measure to which all measures of that type can be related." []	225114	\N	\N	EFO	1	EFO	unit	base unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000045	"A unit which is one of a particular measure to which all measures of that type can be related." []	582018	\N	\N	EFO	2	EFO	information entity	base unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000045	"A unit which is one of a particular measure to which all measures of that type can be related." []	1166026	\N	\N	EFO	3	EFO	experimental factor	base unit
UO:0000046	\N	\N	"A unit which is derived from base units." []	UO:0000046	"A unit which is derived from base units." []	80358	\N	\N	EFO	0	EFO	derived unit	derived unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000046	"A unit which is derived from base units." []	225115	\N	\N	EFO	1	EFO	unit	derived unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000046	"A unit which is derived from base units." []	582019	\N	\N	EFO	2	EFO	information entity	derived unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000046	"A unit which is derived from base units." []	1166027	\N	\N	EFO	3	EFO	experimental factor	derived unit
UO:0000047	\N	\N	"An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface." []	UO:0000047	"An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface." []	80359	\N	\N	EFO	0	EFO	area unit	area unit
UO:0000000	UO:0000047	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000047	"An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface." []	225116	\N	\N	EFO	1	EFO	unit	area unit
UO:0000046	UO:0000047	\N	"A unit which is derived from base units." []	UO:0000047	"An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface." []	225117	\N	\N	EFO	1	EFO	derived unit	area unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000047	"An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface." []	582020	\N	\N	EFO	2	EFO	unit	area unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000047	"An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface." []	1166028	\N	\N	EFO	3	EFO	information entity	area unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000047	"An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface." []	2049949	\N	\N	EFO	4	EFO	experimental factor	area unit
UO:0000051	\N	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000051	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	80360	\N	\N	EFO	0	EFO	concentration unit	concentration unit
UO:0000000	UO:0000051	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000051	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	225118	\N	\N	EFO	1	EFO	unit	concentration unit
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000051	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	225119	\N	\N	EFO	1	EFO	derived unit	concentration unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000051	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	582021	\N	\N	EFO	2	EFO	unit	concentration unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000051	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	1166029	\N	\N	EFO	3	EFO	information entity	concentration unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000051	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	2049950	\N	\N	EFO	4	EFO	experimental factor	concentration unit
UO:0000055	\N	\N	"A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." []	UO:0000055	"A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." []	80361	\N	\N	EFO	0	EFO	molar mass unit	molar mass unit
UO:0000002	UO:0000055	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000055	"A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." []	225120	\N	\N	EFO	1	EFO	mass unit	molar mass unit
UO:0000046	UO:0000055	\N	"A unit which is derived from base units." []	UO:0000055	"A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." []	225121	\N	\N	EFO	1	EFO	derived unit	molar mass unit
UO:0000000	UO:0000002	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000055	"A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." []	582022	\N	\N	EFO	2	EFO	unit	molar mass unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000055	"A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." []	582023	\N	\N	EFO	2	EFO	unit	molar mass unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000055	"A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." []	1166030	\N	\N	EFO	3	EFO	information entity	molar mass unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000055	"A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." []	2049951	\N	\N	EFO	4	EFO	experimental factor	molar mass unit
UO:0000061	\N	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000061	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	80362	\N	\N	EFO	0	EFO	unit of molarity	unit of molarity
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000061	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	225122	\N	\N	EFO	1	EFO	concentration unit	unit of molarity
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000061	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	225123	\N	\N	EFO	1	EFO	concentration unit	unit of molarity
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000061	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	582024	\N	\N	EFO	2	EFO	derived unit	unit of molarity
UO:0000000	UO:0000051	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000061	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	582025	\N	\N	EFO	2	EFO	unit	unit of molarity
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000061	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	1166031	\N	\N	EFO	3	EFO	unit	unit of molarity
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000061	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	2049952	\N	\N	EFO	4	EFO	information entity	unit of molarity
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000061	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	3199918	\N	\N	EFO	5	EFO	experimental factor	unit of molarity
UO:0000062	\N	\N	"A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." []	UO:0000062	"A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." []	80363	\N	\N	EFO	0	EFO	molar	molar
UO:0000061	UO:0000062	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000062	"A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." []	225124	\N	\N	EFO	1	EFO	unit of molarity	molar
UO:0000061	UO:0000062	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000062	"A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." []	225125	\N	\N	EFO	1	EFO	unit of molarity	molar
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000062	"A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." []	582026	\N	\N	EFO	2	EFO	concentration unit	molar
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000062	"A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." []	582027	\N	\N	EFO	2	EFO	concentration unit	molar
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000062	"A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." []	1166032	\N	\N	EFO	3	EFO	derived unit	molar
UO:0000000	UO:0000051	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000062	"A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." []	1166033	\N	\N	EFO	3	EFO	unit	molar
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000062	"A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." []	2049953	\N	\N	EFO	4	EFO	unit	molar
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000062	"A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." []	3199919	\N	\N	EFO	5	EFO	information entity	molar
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000062	"A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L)." []	4404965	\N	\N	EFO	6	EFO	experimental factor	molar
UO:0000063	\N	\N	"A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M." []	UO:0000063	"A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M." []	80364	\N	\N	EFO	0	EFO	millimolar	millimolar
UO:0000061	UO:0000063	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000063	"A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M." []	225126	\N	\N	EFO	1	EFO	unit of molarity	millimolar
UO:0000061	UO:0000063	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000063	"A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M." []	225127	\N	\N	EFO	1	EFO	unit of molarity	millimolar
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000063	"A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M." []	582028	\N	\N	EFO	2	EFO	concentration unit	millimolar
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000063	"A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M." []	582029	\N	\N	EFO	2	EFO	concentration unit	millimolar
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000063	"A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M." []	1166034	\N	\N	EFO	3	EFO	derived unit	millimolar
UO:0000000	UO:0000051	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000063	"A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M." []	1166035	\N	\N	EFO	3	EFO	unit	millimolar
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000063	"A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M." []	2049954	\N	\N	EFO	4	EFO	unit	millimolar
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000063	"A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M." []	3199920	\N	\N	EFO	5	EFO	information entity	millimolar
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000063	"A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M." []	4404966	\N	\N	EFO	6	EFO	experimental factor	millimolar
UO:0000064	\N	\N	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	UO:0000064	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	80365	\N	\N	EFO	0	EFO	micromolar	micromolar
UO:0000055	UO:0000064	\N	"A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules." []	UO:0000064	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	225128	\N	\N	EFO	1	EFO	molar mass unit	micromolar
UO:0000061	UO:0000064	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000064	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	225129	\N	\N	EFO	1	EFO	unit of molarity	micromolar
UO:0000061	UO:0000064	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000064	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	225130	\N	\N	EFO	1	EFO	unit of molarity	micromolar
UO:0000046	UO:0000055	\N	"A unit which is derived from base units." []	UO:0000064	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	582030	\N	\N	EFO	2	EFO	derived unit	micromolar
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000064	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	582031	\N	\N	EFO	2	EFO	concentration unit	micromolar
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000064	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	582032	\N	\N	EFO	2	EFO	concentration unit	micromolar
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000064	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	2049956	\N	\N	EFO	4	EFO	unit	micromolar
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000064	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	1166037	\N	\N	EFO	3	EFO	derived unit	micromolar
UO:0000000	UO:0000051	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000064	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	1166038	\N	\N	EFO	3	EFO	unit	micromolar
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000064	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	3000517	\N	\N	EFO	5	EFO	information entity	micromolar
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000064	"A unit of molarity which is equal to one millionth of a molar or 10^[-6] M." []	4134636	\N	\N	EFO	6	EFO	experimental factor	micromolar
UO:0000065	\N	\N	"A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M." []	UO:0000065	"A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M." []	80366	\N	\N	EFO	0	EFO	nanomolar	nanomolar
UO:0000061	UO:0000065	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000065	"A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M." []	225131	\N	\N	EFO	1	EFO	unit of molarity	nanomolar
UO:0000061	UO:0000065	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000065	"A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M." []	225132	\N	\N	EFO	1	EFO	unit of molarity	nanomolar
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000065	"A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M." []	582033	\N	\N	EFO	2	EFO	concentration unit	nanomolar
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000065	"A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M." []	582034	\N	\N	EFO	2	EFO	concentration unit	nanomolar
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000065	"A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M." []	1166039	\N	\N	EFO	3	EFO	derived unit	nanomolar
UO:0000000	UO:0000051	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000065	"A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M." []	1166040	\N	\N	EFO	3	EFO	unit	nanomolar
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000065	"A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M." []	2049957	\N	\N	EFO	4	EFO	unit	nanomolar
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000065	"A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M." []	3199922	\N	\N	EFO	5	EFO	information entity	nanomolar
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000065	"A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M." []	4404967	\N	\N	EFO	6	EFO	experimental factor	nanomolar
UO:0000066	\N	\N	"A unit of molarity which is equal to 10^[-12] M." []	UO:0000066	"A unit of molarity which is equal to 10^[-12] M." []	80367	\N	\N	EFO	0	EFO	picomolar	picomolar
UO:0000061	UO:0000066	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000066	"A unit of molarity which is equal to 10^[-12] M." []	225133	\N	\N	EFO	1	EFO	unit of molarity	picomolar
UO:0000061	UO:0000066	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000066	"A unit of molarity which is equal to 10^[-12] M." []	225134	\N	\N	EFO	1	EFO	unit of molarity	picomolar
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000066	"A unit of molarity which is equal to 10^[-12] M." []	582035	\N	\N	EFO	2	EFO	concentration unit	picomolar
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000066	"A unit of molarity which is equal to 10^[-12] M." []	582036	\N	\N	EFO	2	EFO	concentration unit	picomolar
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000066	"A unit of molarity which is equal to 10^[-12] M." []	1166041	\N	\N	EFO	3	EFO	derived unit	picomolar
UO:0000000	UO:0000051	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000066	"A unit of molarity which is equal to 10^[-12] M." []	1166042	\N	\N	EFO	3	EFO	unit	picomolar
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000066	"A unit of molarity which is equal to 10^[-12] M." []	2049958	\N	\N	EFO	4	EFO	unit	picomolar
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000066	"A unit of molarity which is equal to 10^[-12] M." []	3199923	\N	\N	EFO	5	EFO	information entity	picomolar
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000066	"A unit of molarity which is equal to 10^[-12] M." []	4404968	\N	\N	EFO	6	EFO	experimental factor	picomolar
UO:0000073	\N	\N	"A unit of molarity which is equal to 10^[-15] M." []	UO:0000073	"A unit of molarity which is equal to 10^[-15] M." []	80368	\N	\N	EFO	0	EFO	femtomolar	femtomolar
UO:0000061	UO:0000073	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000073	"A unit of molarity which is equal to 10^[-15] M." []	225135	\N	\N	EFO	1	EFO	unit of molarity	femtomolar
UO:0000061	UO:0000073	\N	"A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution." []	UO:0000073	"A unit of molarity which is equal to 10^[-15] M." []	225136	\N	\N	EFO	1	EFO	unit of molarity	femtomolar
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000073	"A unit of molarity which is equal to 10^[-15] M." []	582037	\N	\N	EFO	2	EFO	concentration unit	femtomolar
UO:0000051	UO:0000061	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000073	"A unit of molarity which is equal to 10^[-15] M." []	582038	\N	\N	EFO	2	EFO	concentration unit	femtomolar
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000073	"A unit of molarity which is equal to 10^[-15] M." []	1166043	\N	\N	EFO	3	EFO	derived unit	femtomolar
UO:0000000	UO:0000051	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000073	"A unit of molarity which is equal to 10^[-15] M." []	1166044	\N	\N	EFO	3	EFO	unit	femtomolar
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000073	"A unit of molarity which is equal to 10^[-15] M." []	2049959	\N	\N	EFO	4	EFO	unit	femtomolar
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000073	"A unit of molarity which is equal to 10^[-15] M." []	3199924	\N	\N	EFO	5	EFO	information entity	femtomolar
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000073	"A unit of molarity which is equal to 10^[-15] M." []	4404969	\N	\N	EFO	6	EFO	experimental factor	femtomolar
UO:0000080	\N	\N	"An area unit which is equal to an area enclosed by a square with sides each 1 meter long." []	UO:0000080	"An area unit which is equal to an area enclosed by a square with sides each 1 meter long." []	80369	\N	\N	EFO	0	EFO	square meter	square meter
UO:0000047	UO:0000080	\N	"An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface." []	UO:0000080	"An area unit which is equal to an area enclosed by a square with sides each 1 meter long." []	225137	\N	\N	EFO	1	EFO	area unit	square meter
UO:0000047	UO:0000080	\N	"An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface." []	UO:0000080	"An area unit which is equal to an area enclosed by a square with sides each 1 meter long." []	225138	\N	\N	EFO	1	EFO	area unit	square meter
UO:0000046	UO:0000047	\N	"A unit which is derived from base units." []	UO:0000080	"An area unit which is equal to an area enclosed by a square with sides each 1 meter long." []	582039	\N	\N	EFO	2	EFO	derived unit	square meter
UO:0000000	UO:0000047	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000080	"An area unit which is equal to an area enclosed by a square with sides each 1 meter long." []	582040	\N	\N	EFO	2	EFO	unit	square meter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000080	"An area unit which is equal to an area enclosed by a square with sides each 1 meter long." []	1166045	\N	\N	EFO	3	EFO	unit	square meter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000080	"An area unit which is equal to an area enclosed by a square with sides each 1 meter long." []	2049960	\N	\N	EFO	4	EFO	information entity	square meter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000080	"An area unit which is equal to an area enclosed by a square with sides each 1 meter long." []	3199925	\N	\N	EFO	5	EFO	experimental factor	square meter
UO:0000095	\N	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000095	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	80370	\N	\N	EFO	0	EFO	volume unit	volume unit
UO:0000000	UO:0000095	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000095	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	225139	\N	\N	EFO	1	EFO	unit	volume unit
UO:0000046	UO:0000095	\N	"A unit which is derived from base units." []	UO:0000095	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	225140	\N	\N	EFO	1	EFO	derived unit	volume unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000095	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	582041	\N	\N	EFO	2	EFO	unit	volume unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000095	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	1166046	\N	\N	EFO	3	EFO	information entity	volume unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000095	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	2049961	\N	\N	EFO	4	EFO	experimental factor	volume unit
UO:0000097	\N	\N	"A volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." []	UO:0000097	"A volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." []	80371	\N	\N	EFO	0	EFO	cubic centimeter	cubic centimeter
UO:0000095	UO:0000097	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000097	"A volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." []	225141	\N	\N	EFO	1	EFO	volume unit	cubic centimeter
UO:0000095	UO:0000097	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000097	"A volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." []	225142	\N	\N	EFO	1	EFO	volume unit	cubic centimeter
UO:0000046	UO:0000095	\N	"A unit which is derived from base units." []	UO:0000097	"A volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." []	582042	\N	\N	EFO	2	EFO	derived unit	cubic centimeter
UO:0000000	UO:0000095	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000097	"A volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." []	582043	\N	\N	EFO	2	EFO	unit	cubic centimeter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000097	"A volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." []	1166047	\N	\N	EFO	3	EFO	unit	cubic centimeter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000097	"A volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." []	2049962	\N	\N	EFO	4	EFO	information entity	cubic centimeter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000097	"A volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." []	3199926	\N	\N	EFO	5	EFO	experimental factor	cubic centimeter
UO:0000098	\N	\N	"A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter." []	UO:0000098	"A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter." []	80372	\N	\N	EFO	0	EFO	milliliter	milliliter
UO:0000095	UO:0000098	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000098	"A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter." []	225143	\N	\N	EFO	1	EFO	volume unit	milliliter
UO:0000095	UO:0000098	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000098	"A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter." []	225144	\N	\N	EFO	1	EFO	volume unit	milliliter
UO:0000046	UO:0000095	\N	"A unit which is derived from base units." []	UO:0000098	"A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter." []	582044	\N	\N	EFO	2	EFO	derived unit	milliliter
UO:0000000	UO:0000095	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000098	"A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter." []	582045	\N	\N	EFO	2	EFO	unit	milliliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000098	"A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter." []	1166048	\N	\N	EFO	3	EFO	unit	milliliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000098	"A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter." []	2049963	\N	\N	EFO	4	EFO	information entity	milliliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000098	"A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter." []	3199927	\N	\N	EFO	5	EFO	experimental factor	milliliter
UO:0000099	\N	\N	"A volume unit which is equal to one thousandth of a cubic meter or 10^[-3] m^[3], or to 1 decimeter." []	UO:0000099	"A volume unit which is equal to one thousandth of a cubic meter or 10^[-3] m^[3], or to 1 decimeter." []	80373	\N	\N	EFO	0	EFO	liter	liter
UO:0000095	UO:0000099	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000099	"A volume unit which is equal to one thousandth of a cubic meter or 10^[-3] m^[3], or to 1 decimeter." []	225145	\N	\N	EFO	1	EFO	volume unit	liter
UO:0000095	UO:0000099	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000099	"A volume unit which is equal to one thousandth of a cubic meter or 10^[-3] m^[3], or to 1 decimeter." []	225146	\N	\N	EFO	1	EFO	volume unit	liter
UO:0000046	UO:0000095	\N	"A unit which is derived from base units." []	UO:0000099	"A volume unit which is equal to one thousandth of a cubic meter or 10^[-3] m^[3], or to 1 decimeter." []	582046	\N	\N	EFO	2	EFO	derived unit	liter
UO:0000000	UO:0000095	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000099	"A volume unit which is equal to one thousandth of a cubic meter or 10^[-3] m^[3], or to 1 decimeter." []	582047	\N	\N	EFO	2	EFO	unit	liter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000099	"A volume unit which is equal to one thousandth of a cubic meter or 10^[-3] m^[3], or to 1 decimeter." []	1166049	\N	\N	EFO	3	EFO	unit	liter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000099	"A volume unit which is equal to one thousandth of a cubic meter or 10^[-3] m^[3], or to 1 decimeter." []	2049964	\N	\N	EFO	4	EFO	information entity	liter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000099	"A volume unit which is equal to one thousandth of a cubic meter or 10^[-3] m^[3], or to 1 decimeter." []	3199928	\N	\N	EFO	5	EFO	experimental factor	liter
UO:0000101	\N	\N	"A volume unit which is equal to one millionth of a liter or 10^[-6] L." []	UO:0000101	"A volume unit which is equal to one millionth of a liter or 10^[-6] L." []	80374	\N	\N	EFO	0	EFO	microliter	microliter
UO:0000095	UO:0000101	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000101	"A volume unit which is equal to one millionth of a liter or 10^[-6] L." []	225147	\N	\N	EFO	1	EFO	volume unit	microliter
UO:0000095	UO:0000101	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000101	"A volume unit which is equal to one millionth of a liter or 10^[-6] L." []	225148	\N	\N	EFO	1	EFO	volume unit	microliter
UO:0000046	UO:0000095	\N	"A unit which is derived from base units." []	UO:0000101	"A volume unit which is equal to one millionth of a liter or 10^[-6] L." []	582048	\N	\N	EFO	2	EFO	derived unit	microliter
UO:0000000	UO:0000095	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000101	"A volume unit which is equal to one millionth of a liter or 10^[-6] L." []	582049	\N	\N	EFO	2	EFO	unit	microliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000101	"A volume unit which is equal to one millionth of a liter or 10^[-6] L." []	1166050	\N	\N	EFO	3	EFO	unit	microliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000101	"A volume unit which is equal to one millionth of a liter or 10^[-6] L." []	2049965	\N	\N	EFO	4	EFO	information entity	microliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000101	"A volume unit which is equal to one millionth of a liter or 10^[-6] L." []	3199929	\N	\N	EFO	5	EFO	experimental factor	microliter
UO:0000102	\N	\N	"A volume unit which is equal to one thousandth of one millionth of a liter or 10^[-9] L." []	UO:0000102	"A volume unit which is equal to one thousandth of one millionth of a liter or 10^[-9] L." []	80375	\N	\N	EFO	0	EFO	nanoliter	nanoliter
UO:0000095	UO:0000102	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000102	"A volume unit which is equal to one thousandth of one millionth of a liter or 10^[-9] L." []	225149	\N	\N	EFO	1	EFO	volume unit	nanoliter
UO:0000095	UO:0000102	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000102	"A volume unit which is equal to one thousandth of one millionth of a liter or 10^[-9] L." []	225150	\N	\N	EFO	1	EFO	volume unit	nanoliter
UO:0000046	UO:0000095	\N	"A unit which is derived from base units." []	UO:0000102	"A volume unit which is equal to one thousandth of one millionth of a liter or 10^[-9] L." []	582050	\N	\N	EFO	2	EFO	derived unit	nanoliter
UO:0000000	UO:0000095	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000102	"A volume unit which is equal to one thousandth of one millionth of a liter or 10^[-9] L." []	582051	\N	\N	EFO	2	EFO	unit	nanoliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000102	"A volume unit which is equal to one thousandth of one millionth of a liter or 10^[-9] L." []	1166051	\N	\N	EFO	3	EFO	unit	nanoliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000102	"A volume unit which is equal to one thousandth of one millionth of a liter or 10^[-9] L." []	2049966	\N	\N	EFO	4	EFO	information entity	nanoliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000102	"A volume unit which is equal to one thousandth of one millionth of a liter or 10^[-9] L." []	3199930	\N	\N	EFO	5	EFO	experimental factor	nanoliter
UO:0000103	\N	\N	"A volume unit which is equal to 10^[-12] L." []	UO:0000103	"A volume unit which is equal to 10^[-12] L." []	80376	\N	\N	EFO	0	EFO	picoliter	picoliter
UO:0000095	UO:0000103	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000103	"A volume unit which is equal to 10^[-12] L." []	225151	\N	\N	EFO	1	EFO	volume unit	picoliter
UO:0000095	UO:0000103	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000103	"A volume unit which is equal to 10^[-12] L." []	225152	\N	\N	EFO	1	EFO	volume unit	picoliter
UO:0000046	UO:0000095	\N	"A unit which is derived from base units." []	UO:0000103	"A volume unit which is equal to 10^[-12] L." []	582052	\N	\N	EFO	2	EFO	derived unit	picoliter
UO:0000000	UO:0000095	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000103	"A volume unit which is equal to 10^[-12] L." []	582053	\N	\N	EFO	2	EFO	unit	picoliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000103	"A volume unit which is equal to 10^[-12] L." []	1166052	\N	\N	EFO	3	EFO	unit	picoliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000103	"A volume unit which is equal to 10^[-12] L." []	2049967	\N	\N	EFO	4	EFO	information entity	picoliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000103	"A volume unit which is equal to 10^[-12] L." []	3199931	\N	\N	EFO	5	EFO	experimental factor	picoliter
UO:0000104	\N	\N	"A volume unit which is equal to 10^[-12] L." []	UO:0000104	"A volume unit which is equal to 10^[-12] L." []	80377	\N	\N	EFO	0	EFO	femtoliter	femtoliter
UO:0000095	UO:0000104	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000104	"A volume unit which is equal to 10^[-12] L." []	225153	\N	\N	EFO	1	EFO	volume unit	femtoliter
UO:0000095	UO:0000104	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000104	"A volume unit which is equal to 10^[-12] L." []	225154	\N	\N	EFO	1	EFO	volume unit	femtoliter
UO:0000046	UO:0000095	\N	"A unit which is derived from base units." []	UO:0000104	"A volume unit which is equal to 10^[-12] L." []	582054	\N	\N	EFO	2	EFO	derived unit	femtoliter
UO:0000000	UO:0000095	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000104	"A volume unit which is equal to 10^[-12] L." []	582055	\N	\N	EFO	2	EFO	unit	femtoliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000104	"A volume unit which is equal to 10^[-12] L." []	1166053	\N	\N	EFO	3	EFO	unit	femtoliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000104	"A volume unit which is equal to 10^[-12] L." []	2049968	\N	\N	EFO	4	EFO	information entity	femtoliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000104	"A volume unit which is equal to 10^[-12] L." []	3199932	\N	\N	EFO	5	EFO	experimental factor	femtoliter
UO:0000109	\N	\N	"A unit which is a standard measure of the force applied to a given area." []	UO:0000109	"A unit which is a standard measure of the force applied to a given area." []	80378	\N	\N	EFO	0	EFO	pressure unit	pressure unit
UO:0000000	UO:0000109	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000109	"A unit which is a standard measure of the force applied to a given area." []	225155	\N	\N	EFO	1	EFO	unit	pressure unit
UO:0000046	UO:0000109	\N	"A unit which is derived from base units." []	UO:0000109	"A unit which is a standard measure of the force applied to a given area." []	225156	\N	\N	EFO	1	EFO	derived unit	pressure unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000109	"A unit which is a standard measure of the force applied to a given area." []	582056	\N	\N	EFO	2	EFO	unit	pressure unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000109	"A unit which is a standard measure of the force applied to a given area." []	1166054	\N	\N	EFO	3	EFO	information entity	pressure unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000109	"A unit which is a standard measure of the force applied to a given area." []	2049969	\N	\N	EFO	4	EFO	experimental factor	pressure unit
UO:0000115	\N	\N	"A unit which is a standard measure of the luminous flux incident on a unit area." []	UO:0000115	"A unit which is a standard measure of the luminous flux incident on a unit area." []	80379	\N	\N	EFO	0	EFO	illuminance unit	illuminance unit
UO:0000157	\N	\N	"A unit which is a standard measure of the intensity of light." [NIST:NIST]	UO:0000115	"A unit which is a standard measure of the luminous flux incident on a unit area." []	196360	\N	unit_group_slim	EFO	0	EFO	light unit	illuminance unit
UO:0000046	UO:0000115	\N	"A unit which is derived from base units." []	UO:0000115	"A unit which is a standard measure of the luminous flux incident on a unit area." []	225157	\N	\N	EFO	1	EFO	derived unit	illuminance unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000115	"A unit which is a standard measure of the luminous flux incident on a unit area." []	582057	\N	\N	EFO	2	EFO	unit	illuminance unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000115	"A unit which is a standard measure of the luminous flux incident on a unit area." []	1166055	\N	\N	EFO	3	EFO	information entity	illuminance unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000115	"A unit which is a standard measure of the luminous flux incident on a unit area." []	2049970	\N	\N	EFO	4	EFO	experimental factor	illuminance unit
UO:0000116	\N	\N	"An illuminance unit which is equal to the illuminance produced by 1 lumen evenly spread over an area 1 meter squared." []	UO:0000116	"An illuminance unit which is equal to the illuminance produced by 1 lumen evenly spread over an area 1 meter squared." []	80380	\N	\N	EFO	0	EFO	lux	lux
UO:0000115	UO:0000116	\N	"A unit which is a standard measure of the luminous flux incident on a unit area." []	UO:0000116	"An illuminance unit which is equal to the illuminance produced by 1 lumen evenly spread over an area 1 meter squared." []	225158	\N	\N	EFO	1	EFO	illuminance unit	lux
UO:0000115	UO:0000116	\N	"A unit which is a standard measure of the luminous flux incident on a unit area." []	UO:0000116	"An illuminance unit which is equal to the illuminance produced by 1 lumen evenly spread over an area 1 meter squared." []	225159	\N	\N	EFO	1	EFO	illuminance unit	lux
UO:0000046	UO:0000115	\N	"A unit which is derived from base units." []	UO:0000116	"An illuminance unit which is equal to the illuminance produced by 1 lumen evenly spread over an area 1 meter squared." []	582058	\N	\N	EFO	2	EFO	derived unit	lux
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000116	"An illuminance unit which is equal to the illuminance produced by 1 lumen evenly spread over an area 1 meter squared." []	1166056	\N	\N	EFO	3	EFO	unit	lux
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000116	"An illuminance unit which is equal to the illuminance produced by 1 lumen evenly spread over an area 1 meter squared." []	2049971	\N	\N	EFO	4	EFO	information entity	lux
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000116	"An illuminance unit which is equal to the illuminance produced by 1 lumen evenly spread over an area 1 meter squared." []	3199933	\N	\N	EFO	5	EFO	experimental factor	lux
UO:0000121	\N	\N	"A unit which is a standard measure of the figure or space formed by the junction of two lines or planes." []	UO:0000121	"A unit which is a standard measure of the figure or space formed by the junction of two lines or planes." []	80381	\N	\N	EFO	0	EFO	angle unit	angle unit
UO:0000000	UO:0000121	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000121	"A unit which is a standard measure of the figure or space formed by the junction of two lines or planes." []	225160	\N	\N	EFO	1	EFO	unit	angle unit
UO:0000000	UO:0000121	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000121	"A unit which is a standard measure of the figure or space formed by the junction of two lines or planes." []	225161	\N	\N	EFO	1	EFO	unit	angle unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000121	"A unit which is a standard measure of the figure or space formed by the junction of two lines or planes." []	582059	\N	\N	EFO	2	EFO	information entity	angle unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000121	"A unit which is a standard measure of the figure or space formed by the junction of two lines or planes." []	1166057	\N	\N	EFO	3	EFO	experimental factor	angle unit
UO:0000126	\N	\N	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	UO:0000126	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	80382	\N	\N	EFO	0	EFO	derived temperature unit	derived temperature unit
UO:0000046	UO:0000126	\N	"A unit which is derived from base units." []	UO:0000126	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	225162	\N	\N	EFO	1	EFO	derived unit	derived temperature unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000126	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	582060	\N	\N	EFO	2	EFO	unit	derived temperature unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000126	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	1166058	\N	\N	EFO	3	EFO	information entity	derived temperature unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000126	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	2049972	\N	\N	EFO	4	EFO	experimental factor	derived temperature unit
UO:0000127	\N	\N	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	UO:0000127	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	80383	\N	\N	EFO	0	EFO	radiation unit	radiation unit
UO:0000000	UO:0000127	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000127	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	225163	\N	\N	EFO	1	EFO	unit	radiation unit
UO:0000046	UO:0000127	\N	"A unit which is derived from base units." []	UO:0000127	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	225164	\N	\N	EFO	1	EFO	derived unit	radiation unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000127	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	582061	\N	\N	EFO	2	EFO	unit	radiation unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000127	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	1166059	\N	\N	EFO	3	EFO	information entity	radiation unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000127	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	2049973	\N	\N	EFO	4	EFO	experimental factor	radiation unit
UO:0000129	\N	\N	"A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." []	UO:0000129	"A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." []	80384	\N	\N	EFO	0	EFO	absorbed dose unit	absorbed dose unit
UO:0000127	UO:0000129	\N	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	UO:0000129	"A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." []	225165	\N	\N	EFO	1	EFO	radiation unit	absorbed dose unit
UO:0000127	UO:0000129	\N	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	UO:0000129	"A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." []	225166	\N	\N	EFO	1	EFO	radiation unit	absorbed dose unit
UO:0000046	UO:0000127	\N	"A unit which is derived from base units." []	UO:0000129	"A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." []	582062	\N	\N	EFO	2	EFO	derived unit	absorbed dose unit
UO:0000000	UO:0000127	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000129	"A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." []	582063	\N	\N	EFO	2	EFO	unit	absorbed dose unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000129	"A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." []	1166060	\N	\N	EFO	3	EFO	unit	absorbed dose unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000129	"A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." []	2049974	\N	\N	EFO	4	EFO	information entity	absorbed dose unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000129	"A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." []	3199934	\N	\N	EFO	5	EFO	experimental factor	absorbed dose unit
UO:0000134	\N	\N	"An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter." []	UO:0000134	"An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter." []	80385	\N	\N	EFO	0	EFO	Gray	Gray
UO:0000129	UO:0000134	\N	"A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." []	UO:0000134	"An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter." []	225167	\N	\N	EFO	1	EFO	absorbed dose unit	Gray
UO:0000129	UO:0000134	\N	"A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." []	UO:0000134	"An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter." []	225168	\N	\N	EFO	1	EFO	absorbed dose unit	Gray
UO:0000127	UO:0000129	\N	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	UO:0000134	"An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter." []	582064	\N	\N	EFO	2	EFO	radiation unit	Gray
UO:0000127	UO:0000129	\N	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	UO:0000134	"An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter." []	582065	\N	\N	EFO	2	EFO	radiation unit	Gray
UO:0000046	UO:0000127	\N	"A unit which is derived from base units." []	UO:0000134	"An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter." []	1166061	\N	\N	EFO	3	EFO	derived unit	Gray
UO:0000000	UO:0000127	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000134	"An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter." []	1166062	\N	\N	EFO	3	EFO	unit	Gray
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000134	"An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter." []	2049975	\N	\N	EFO	4	EFO	unit	Gray
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000134	"An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter." []	3199935	\N	\N	EFO	5	EFO	information entity	Gray
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000134	"An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter." []	4404970	\N	\N	EFO	6	EFO	experimental factor	Gray
UO:0000135	\N	\N	"An absorbed dose unit which is equal to 0.01 gray (Gy)." []	UO:0000135	"An absorbed dose unit which is equal to 0.01 gray (Gy)." []	80386	\N	\N	EFO	0	EFO	rad	rad
UO:0000127	UO:0000135	\N	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	UO:0000135	"An absorbed dose unit which is equal to 0.01 gray (Gy)." []	225169	\N	\N	EFO	1	EFO	radiation unit	rad
UO:0000129	UO:0000135	\N	"A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue." []	UO:0000135	"An absorbed dose unit which is equal to 0.01 gray (Gy)." []	225170	\N	\N	EFO	1	EFO	absorbed dose unit	rad
UO:0000046	UO:0000127	\N	"A unit which is derived from base units." []	UO:0000135	"An absorbed dose unit which is equal to 0.01 gray (Gy)." []	582066	\N	\N	EFO	2	EFO	derived unit	rad
UO:0000127	UO:0000129	\N	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	UO:0000135	"An absorbed dose unit which is equal to 0.01 gray (Gy)." []	582067	\N	\N	EFO	2	EFO	radiation unit	rad
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000135	"An absorbed dose unit which is equal to 0.01 gray (Gy)." []	1166063	\N	\N	EFO	3	EFO	unit	rad
UO:0000000	UO:0000127	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000135	"An absorbed dose unit which is equal to 0.01 gray (Gy)." []	1166064	\N	\N	EFO	3	EFO	unit	rad
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000135	"An absorbed dose unit which is equal to 0.01 gray (Gy)." []	2049976	\N	\N	EFO	4	EFO	information entity	rad
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000135	"An absorbed dose unit which is equal to 0.01 gray (Gy)." []	3199936	\N	\N	EFO	5	EFO	experimental factor	rad
UO:0000149	\N	\N	"A unit which is a standard measure of the dimension in which events occur in sequence." []	UO:0000149	"A unit which is a standard measure of the dimension in which events occur in sequence." []	80387	\N	\N	EFO	0	EFO	derived time unit	derived time unit
UO:0000046	UO:0000149	\N	"A unit which is derived from base units." []	UO:0000149	"A unit which is a standard measure of the dimension in which events occur in sequence." []	225171	\N	\N	EFO	1	EFO	derived unit	derived time unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000149	"A unit which is a standard measure of the dimension in which events occur in sequence." []	582068	\N	\N	EFO	2	EFO	unit	derived time unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000149	"A unit which is a standard measure of the dimension in which events occur in sequence." []	1166065	\N	\N	EFO	3	EFO	information entity	derived time unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000149	"A unit which is a standard measure of the dimension in which events occur in sequence." []	2049977	\N	\N	EFO	4	EFO	experimental factor	derived time unit
UO:0000160	\N	\N	"" []	UO:0000160	"" []	80388	\N	\N	EFO	0	EFO	microeinstein per square meter per second	microeinstein per square meter per second
UO:0000154	\N	\N	"A unit which is a standard measure of the power of electromagnetic radiation at a surface, per unit area." [Wikipedia:Wikipedia]	UO:0000160	"" []	196361	\N	unit_group_slim	EFO	0	EFO	irradiance unit	microeinstein per square meter per second
UO:0000127	UO:0000160	\N	"A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source." []	UO:0000160	"" []	225172	\N	\N	EFO	1	EFO	radiation unit	microeinstein per square meter per second
UO:0000046	UO:0000127	\N	"A unit which is derived from base units." []	UO:0000160	"" []	582069	\N	\N	EFO	2	EFO	derived unit	microeinstein per square meter per second
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000160	"" []	1166066	\N	\N	EFO	3	EFO	unit	microeinstein per square meter per second
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000160	"" []	2049978	\N	\N	EFO	4	EFO	information entity	microeinstein per square meter per second
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000160	"" []	3199937	\N	\N	EFO	5	EFO	experimental factor	microeinstein per square meter per second
UO:0000163	\N	\N	"A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture." []	UO:0000163	"A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture." []	80389	\N	\N	EFO	0	EFO	mass percent	mass percent
UO:0000051	UO:0000163	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000163	"A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture." []	225173	\N	\N	EFO	1	EFO	concentration unit	mass percent
UO:0000187	UO:0000163	\N	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	UO:0000163	"A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture." []	225174	\N	\N	EFO	1	EFO	percent	mass percent
UO:0000187	UO:0000163	\N	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	UO:0000163	"A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture." []	225175	\N	\N	EFO	1	EFO	percent	mass percent
UO:0000000	UO:0000051	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000163	"A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture." []	582070	\N	\N	EFO	2	EFO	unit	mass percent
UO:0000186	UO:0000187	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	UO:0000163	"A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture." []	582071	\N	\N	EFO	2	EFO	dimensionless unit	mass percent
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	UO:0000163	"A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture." []	1166067	\N	\N	EFO	3	EFO	derived unit	mass percent
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000163	"A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture." []	2049979	\N	\N	EFO	4	EFO	unit	mass percent
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000163	"A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture." []	3199938	\N	\N	EFO	5	EFO	information entity	mass percent
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000163	"A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture." []	4404971	\N	\N	EFO	6	EFO	experimental factor	mass percent
UO:0000165	\N	\N	"A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution." []	UO:0000165	"A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution." []	80390	\N	\N	EFO	0	EFO	volume percent	volume percent
UO:0000205	\N	\N	"A dimensionless concentration unit which denotes the given volume of the solute in the total volume of the resulting solution." [NIST:NIST]	UO:0000165	"A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution." []	196362	\N	unit_group_slim	EFO	0	EFO	volume per unit volume	volume percent
UO:0000187	UO:0000165	\N	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	UO:0000165	"A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution." []	225176	\N	\N	EFO	1	EFO	percent	volume percent
UO:0000187	UO:0000165	\N	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	UO:0000165	"A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution." []	225177	\N	\N	EFO	1	EFO	percent	volume percent
UO:0000186	UO:0000187	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	UO:0000165	"A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution." []	582072	\N	\N	EFO	2	EFO	dimensionless unit	volume percent
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	UO:0000165	"A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution." []	1166068	\N	\N	EFO	3	EFO	derived unit	volume percent
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000165	"A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution." []	2049980	\N	\N	EFO	4	EFO	unit	volume percent
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000165	"A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution." []	3199939	\N	\N	EFO	5	EFO	information entity	volume percent
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000165	"A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution." []	4404972	\N	\N	EFO	6	EFO	experimental factor	volume percent
UO:0000169	\N	\N	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000 regardless of the units of measure used as long as they are the same or 1 part in 10^[6]." []	UO:0000169	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000 regardless of the units of measure used as long as they are the same or 1 part in 10^[6]." []	80391	\N	\N	EFO	0	EFO	part per million	part per million
UO:0000166	\N	\N	"A dimensionless concentration notation which describes the amount of one substance in another. It is the ratio of the amount of the substance of interest to the amount of that substance plus the amount of the substance." [Wikipedia:Wikipedia]	UO:0000169	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000 regardless of the units of measure used as long as they are the same or 1 part in 10^[6]." []	196363	\N	unit_group_slim	EFO	0	EFO	parts per notation unit	part per million
UO:0000186	UO:0000169	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	UO:0000169	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000 regardless of the units of measure used as long as they are the same or 1 part in 10^[6]." []	225178	\N	\N	EFO	1	EFO	dimensionless unit	part per million
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	UO:0000169	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000 regardless of the units of measure used as long as they are the same or 1 part in 10^[6]." []	582073	\N	\N	EFO	2	EFO	derived unit	part per million
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000169	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000 regardless of the units of measure used as long as they are the same or 1 part in 10^[6]." []	1166069	\N	\N	EFO	3	EFO	unit	part per million
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000169	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000 regardless of the units of measure used as long as they are the same or 1 part in 10^[6]." []	2049981	\N	\N	EFO	4	EFO	information entity	part per million
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000169	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000 regardless of the units of measure used as long as they are the same or 1 part in 10^[6]." []	3199940	\N	\N	EFO	5	EFO	experimental factor	part per million
UO:0000170	\N	\N	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000,000 regardless of the units of measure as long as they are the same or 1 part in 10^[9]." []	UO:0000170	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000,000 regardless of the units of measure as long as they are the same or 1 part in 10^[9]." []	80392	\N	\N	EFO	0	EFO	part per billion	part per billion
UO:0000166	\N	\N	"A dimensionless concentration notation which describes the amount of one substance in another. It is the ratio of the amount of the substance of interest to the amount of that substance plus the amount of the substance." [Wikipedia:Wikipedia]	UO:0000170	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000,000 regardless of the units of measure as long as they are the same or 1 part in 10^[9]." []	196364	\N	unit_group_slim	EFO	0	EFO	parts per notation unit	part per billion
UO:0000186	UO:0000170	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	UO:0000170	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000,000 regardless of the units of measure as long as they are the same or 1 part in 10^[9]." []	225179	\N	\N	EFO	1	EFO	dimensionless unit	part per billion
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	UO:0000170	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000,000 regardless of the units of measure as long as they are the same or 1 part in 10^[9]." []	582074	\N	\N	EFO	2	EFO	derived unit	part per billion
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000170	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000,000 regardless of the units of measure as long as they are the same or 1 part in 10^[9]." []	1166070	\N	\N	EFO	3	EFO	unit	part per billion
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000170	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000,000 regardless of the units of measure as long as they are the same or 1 part in 10^[9]." []	2049982	\N	\N	EFO	4	EFO	information entity	part per billion
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000170	"A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000,000 regardless of the units of measure as long as they are the same or 1 part in 10^[9]." []	3199941	\N	\N	EFO	5	EFO	experimental factor	part per billion
UO:0000175	\N	\N	"A mass unit density which is equal to mass of an object in grams divided by the volume in liters." []	UO:0000175	"A mass unit density which is equal to mass of an object in grams divided by the volume in liters." []	80393	\N	\N	EFO	0	EFO	gram per liter	gram per liter
UO:0000052	\N	\N	"A density unit which is a standard measure of the mass of a substance in a given volume." [UOC:GVG]	UO:0000175	"A mass unit density which is equal to mass of an object in grams divided by the volume in liters." []	196365	\N	unit_group_slim	EFO	0	EFO	mass density unit	gram per liter
UO:0000051	UO:0000175	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000175	"A mass unit density which is equal to mass of an object in grams divided by the volume in liters." []	225180	\N	\N	EFO	1	EFO	concentration unit	gram per liter
UO:0000182	UO:0000175	\N	"A unit which is a standard measure of the influence exerted by some mass." []	UO:0000175	"A mass unit density which is equal to mass of an object in grams divided by the volume in liters." []	225181	\N	\N	EFO	1	EFO	density unit	gram per liter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000175	"A mass unit density which is equal to mass of an object in grams divided by the volume in liters." []	582075	\N	\N	EFO	2	EFO	derived unit	gram per liter
UO:0000046	UO:0000182	\N	"A unit which is derived from base units." []	UO:0000175	"A mass unit density which is equal to mass of an object in grams divided by the volume in liters." []	582076	\N	\N	EFO	2	EFO	derived unit	gram per liter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000175	"A mass unit density which is equal to mass of an object in grams divided by the volume in liters." []	1166071	\N	\N	EFO	3	EFO	unit	gram per liter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000175	"A mass unit density which is equal to mass of an object in grams divided by the volume in liters." []	2049983	\N	\N	EFO	4	EFO	information entity	gram per liter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000175	"A mass unit density which is equal to mass of an object in grams divided by the volume in liters." []	3199942	\N	\N	EFO	5	EFO	experimental factor	gram per liter
UO:0000176	\N	\N	"A milligram per milliliter is a density unit which is equal to mass of an object in milligrams divided by the volume in milliliters." []	UO:0000176	"A milligram per milliliter is a density unit which is equal to mass of an object in milligrams divided by the volume in milliliters." []	80394	\N	\N	EFO	0	EFO	milligram per milliliter	milligram per milliliter
UO:0000052	\N	\N	"A density unit which is a standard measure of the mass of a substance in a given volume." [UOC:GVG]	UO:0000176	"A milligram per milliliter is a density unit which is equal to mass of an object in milligrams divided by the volume in milliliters." []	196366	\N	unit_group_slim	EFO	0	EFO	mass density unit	milligram per milliliter
UO:0000182	UO:0000176	\N	"A unit which is a standard measure of the influence exerted by some mass." []	UO:0000176	"A milligram per milliliter is a density unit which is equal to mass of an object in milligrams divided by the volume in milliliters." []	225182	\N	\N	EFO	1	EFO	density unit	milligram per milliliter
UO:0000046	UO:0000182	\N	"A unit which is derived from base units." []	UO:0000176	"A milligram per milliliter is a density unit which is equal to mass of an object in milligrams divided by the volume in milliliters." []	582077	\N	\N	EFO	2	EFO	derived unit	milligram per milliliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000176	"A milligram per milliliter is a density unit which is equal to mass of an object in milligrams divided by the volume in milliliters." []	1166072	\N	\N	EFO	3	EFO	unit	milligram per milliliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000176	"A milligram per milliliter is a density unit which is equal to mass of an object in milligrams divided by the volume in milliliters." []	2049984	\N	\N	EFO	4	EFO	information entity	milligram per milliliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000176	"A milligram per milliliter is a density unit which is equal to mass of an object in milligrams divided by the volume in milliliters." []	3199943	\N	\N	EFO	5	EFO	experimental factor	milligram per milliliter
UO:0000178	\N	\N	"" []	UO:0000178	"" []	80395	\N	\N	EFO	0	EFO	unit per milliliter	unit per milliliter
UO:0000177	\N	\N	"A concentration unit which is a standard measure of the number of units, as an agreed arbitrary amount, of a given substance per a specific volume of solution." [Webmd:Webmd]	UO:0000178	"" []	196367	\N	unit_group_slim	EFO	0	EFO	unit per volume unit	unit per milliliter
UO:0000186	UO:0000178	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	UO:0000178	"" []	225183	\N	\N	EFO	1	EFO	dimensionless unit	unit per milliliter
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	UO:0000178	"" []	582078	\N	\N	EFO	2	EFO	derived unit	unit per milliliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000178	"" []	1166073	\N	\N	EFO	3	EFO	unit	unit per milliliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000178	"" []	2049985	\N	\N	EFO	4	EFO	information entity	unit per milliliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000178	"" []	3199944	\N	\N	EFO	5	EFO	experimental factor	unit per milliliter
UO:0000182	\N	\N	"A unit which is a standard measure of the influence exerted by some mass." []	UO:0000182	"A unit which is a standard measure of the influence exerted by some mass." []	80396	\N	\N	EFO	0	EFO	density unit	density unit
UO:0000000	UO:0000182	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000182	"A unit which is a standard measure of the influence exerted by some mass." []	225184	\N	\N	EFO	1	EFO	unit	density unit
UO:0000046	UO:0000182	\N	"A unit which is derived from base units." []	UO:0000182	"A unit which is a standard measure of the influence exerted by some mass." []	225185	\N	\N	EFO	1	EFO	derived unit	density unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000182	"A unit which is a standard measure of the influence exerted by some mass." []	582079	\N	\N	EFO	2	EFO	unit	density unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000182	"A unit which is a standard measure of the influence exerted by some mass." []	1166074	\N	\N	EFO	3	EFO	information entity	density unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000182	"A unit which is a standard measure of the influence exerted by some mass." []	2049986	\N	\N	EFO	4	EFO	experimental factor	density unit
UO:0000185	\N	\N	"Adecimal degree(in full, adegree of arc,arc degree, orarcdegree), usually denoted by(thedegree symbol), is a measurement ofplaneangle is a plane angle unit which is equal to 1/360 of a full rotation or 1.7453310^[-2] rad." []	UO:0000185	"Adecimal degree(in full, adegree of arc,arc degree, orarcdegree), usually denoted by(thedegree symbol), is a measurement ofplaneangle is a plane angle unit which is equal to 1/360 of a full rotation or 1.7453310^[-2] rad." []	80397	\N	\N	EFO	0	EFO	degree	degree
UO:0000122	\N	\N	"A unit which is a standard measure of the angle formed by two straight lines in the same plane." [Wikipedia:Wikipedia]	UO:0000185	"Adecimal degree(in full, adegree of arc,arc degree, orarcdegree), usually denoted by(thedegree symbol), is a measurement ofplaneangle is a plane angle unit which is equal to 1/360 of a full rotation or 1.7453310^[-2] rad." []	196368	\N	unit_group_slim	EFO	0	EFO	plane angle unit	degree
UO:0000121	UO:0000185	\N	"A unit which is a standard measure of the figure or space formed by the junction of two lines or planes." []	UO:0000185	"Adecimal degree(in full, adegree of arc,arc degree, orarcdegree), usually denoted by(thedegree symbol), is a measurement ofplaneangle is a plane angle unit which is equal to 1/360 of a full rotation or 1.7453310^[-2] rad." []	225186	\N	\N	EFO	1	EFO	angle unit	degree
UO:0000000	UO:0000121	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000185	"Adecimal degree(in full, adegree of arc,arc degree, orarcdegree), usually denoted by(thedegree symbol), is a measurement ofplaneangle is a plane angle unit which is equal to 1/360 of a full rotation or 1.7453310^[-2] rad." []	582080	\N	\N	EFO	2	EFO	unit	degree
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000185	"Adecimal degree(in full, adegree of arc,arc degree, orarcdegree), usually denoted by(thedegree symbol), is a measurement ofplaneangle is a plane angle unit which is equal to 1/360 of a full rotation or 1.7453310^[-2] rad." []	1166075	\N	\N	EFO	3	EFO	information entity	degree
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000185	"Adecimal degree(in full, adegree of arc,arc degree, orarcdegree), usually denoted by(thedegree symbol), is a measurement ofplaneangle is a plane angle unit which is equal to 1/360 of a full rotation or 1.7453310^[-2] rad." []	2049987	\N	\N	EFO	4	EFO	experimental factor	degree
UO:0000186	\N	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	UO:0000186	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	80398	\N	\N	EFO	0	EFO	dimensionless unit	dimensionless unit
UO:0000000	UO:0000186	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000186	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	225187	\N	\N	EFO	1	EFO	unit	dimensionless unit
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	UO:0000186	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	225188	\N	\N	EFO	1	EFO	derived unit	dimensionless unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000186	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	582081	\N	\N	EFO	2	EFO	unit	dimensionless unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000186	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	1166076	\N	\N	EFO	3	EFO	information entity	dimensionless unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000186	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	2049988	\N	\N	EFO	4	EFO	experimental factor	dimensionless unit
UO:0000187	\N	\N	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	UO:0000187	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	80399	\N	\N	EFO	0	EFO	percent	percent
UO:0000190	\N	\N	"A dimensionless unit which denotes an amount or magnitude of one quantity relative to another." [Wikipedia:Wikipedia]	UO:0000187	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	196369	\N	unit_group_slim	EFO	0	EFO	ratio	percent
UO:0000186	UO:0000187	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	UO:0000187	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	225189	\N	\N	EFO	1	EFO	dimensionless unit	percent
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	UO:0000187	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	582082	\N	\N	EFO	2	EFO	derived unit	percent
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000187	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	1166077	\N	\N	EFO	3	EFO	unit	percent
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000187	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	2049989	\N	\N	EFO	4	EFO	information entity	percent
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000187	"A dimensionless ratio unit which denotes numbers as fractions of 100." []	3199945	\N	\N	EFO	5	EFO	experimental factor	percent
UO:0000189	\N	\N	"A dimensionless unit which denotes a simple count of things." []	UO:0000189	"A dimensionless unit which denotes a simple count of things." []	80400	\N	\N	EFO	0	EFO	count unit	count unit
UO:0000000	UO:0000189	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000189	"A dimensionless unit which denotes a simple count of things." []	225190	\N	\N	EFO	1	EFO	unit	count unit
UO:0000186	UO:0000189	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	UO:0000189	"A dimensionless unit which denotes a simple count of things." []	225191	\N	\N	EFO	1	EFO	dimensionless unit	count unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000189	"A dimensionless unit which denotes a simple count of things." []	582083	\N	\N	EFO	2	EFO	information entity	count unit
UO:0000000	UO:0000186	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000189	"A dimensionless unit which denotes a simple count of things." []	582084	\N	\N	EFO	2	EFO	unit	count unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000189	"A dimensionless unit which denotes a simple count of things." []	1166078	\N	\N	EFO	3	EFO	experimental factor	count unit
UO:0000191	\N	\N	"Definition: A dimensionless ratio unit which relates the part (the numerator) to the whole (the denominator). [Wikipedia]" []	UO:0000191	"Definition: A dimensionless ratio unit which relates the part (the numerator) to the whole (the denominator). [Wikipedia]" []	80401	\N	\N	EFO	0	EFO	fraction	fraction
UO:0000190	\N	\N	"A dimensionless unit which denotes an amount or magnitude of one quantity relative to another." [Wikipedia:Wikipedia]	UO:0000191	"Definition: A dimensionless ratio unit which relates the part (the numerator) to the whole (the denominator). [Wikipedia]" []	196370	\N	unit_group_slim	EFO	0	EFO	ratio	fraction
UO:0000186	UO:0000191	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	UO:0000191	"Definition: A dimensionless ratio unit which relates the part (the numerator) to the whole (the denominator). [Wikipedia]" []	225192	\N	\N	EFO	1	EFO	dimensionless unit	fraction
UO:0000046	UO:0000186	\N	"A unit which is derived from base units." []	UO:0000191	"Definition: A dimensionless ratio unit which relates the part (the numerator) to the whole (the denominator). [Wikipedia]" []	582085	\N	\N	EFO	2	EFO	derived unit	fraction
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000191	"Definition: A dimensionless ratio unit which relates the part (the numerator) to the whole (the denominator). [Wikipedia]" []	1166079	\N	\N	EFO	3	EFO	unit	fraction
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000191	"Definition: A dimensionless ratio unit which relates the part (the numerator) to the whole (the denominator). [Wikipedia]" []	2049990	\N	\N	EFO	4	EFO	information entity	fraction
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000191	"Definition: A dimensionless ratio unit which relates the part (the numerator) to the whole (the denominator). [Wikipedia]" []	3199946	\N	\N	EFO	5	EFO	experimental factor	fraction
UO:0000195	\N	\N	"A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." []	UO:0000195	"A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." []	80402	\N	\N	EFO	0	EFO	degree fahrenheit	degree fahrenheit
UO:0000005	UO:0000195	\N	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	UO:0000195	"A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." []	225193	\N	\N	EFO	1	EFO	temperature unit	degree fahrenheit
UO:0000126	UO:0000195	\N	"A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." []	UO:0000195	"A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." []	225194	\N	\N	EFO	1	EFO	derived temperature unit	degree fahrenheit
UO:0000000	UO:0000005	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000195	"A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." []	582086	\N	\N	EFO	2	EFO	unit	degree fahrenheit
UO:0000046	UO:0000126	\N	"A unit which is derived from base units." []	UO:0000195	"A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." []	582087	\N	\N	EFO	2	EFO	derived unit	degree fahrenheit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000195	"A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." []	1166080	\N	\N	EFO	3	EFO	unit	degree fahrenheit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000195	"A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." []	2049991	\N	\N	EFO	4	EFO	information entity	degree fahrenheit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000195	"A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius." []	3199947	\N	\N	EFO	5	EFO	experimental factor	degree fahrenheit
UO:0000198	\N	\N	"" []	UO:0000198	"" []	80403	\N	\N	EFO	0	EFO	milliliter per kilogram	milliliter per kilogram
UO:0000059	\N	\N	"A unit which is a standard measure of the volume of a given mass of substance (the reciprocal of density)." [Wikipedia:Wikipedia]	UO:0000198	"" []	196371	\N	unit_group_slim	EFO	0	EFO	specific volume unit	milliliter per kilogram
UO:0000051	UO:0000198	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000198	"" []	225195	\N	\N	EFO	1	EFO	concentration unit	milliliter per kilogram
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000198	"" []	582088	\N	\N	EFO	2	EFO	derived unit	milliliter per kilogram
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000198	"" []	1166081	\N	\N	EFO	3	EFO	unit	milliliter per kilogram
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000198	"" []	2049992	\N	\N	EFO	4	EFO	information entity	milliliter per kilogram
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000198	"" []	3199948	\N	\N	EFO	5	EFO	experimental factor	milliliter per kilogram
UO:0000200	\N	\N	"A concentration unit which denotes the average cell number in a given volume." []	UO:0000200	"A concentration unit which denotes the average cell number in a given volume." []	80404	\N	\N	EFO	0	EFO	cell concentration unit	cell concentration unit
UO:0000051	UO:0000200	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000200	"A concentration unit which denotes the average cell number in a given volume." []	225196	\N	\N	EFO	1	EFO	concentration unit	cell concentration unit
UO:0000051	UO:0000200	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000200	"A concentration unit which denotes the average cell number in a given volume." []	225197	\N	\N	EFO	1	EFO	concentration unit	cell concentration unit
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000200	"A concentration unit which denotes the average cell number in a given volume." []	582089	\N	\N	EFO	2	EFO	derived unit	cell concentration unit
UO:0000000	UO:0000051	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000200	"A concentration unit which denotes the average cell number in a given volume." []	582090	\N	\N	EFO	2	EFO	unit	cell concentration unit
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000200	"A concentration unit which denotes the average cell number in a given volume." []	1166082	\N	\N	EFO	3	EFO	unit	cell concentration unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000200	"A concentration unit which denotes the average cell number in a given volume." []	2049993	\N	\N	EFO	4	EFO	information entity	cell concentration unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000200	"A concentration unit which denotes the average cell number in a given volume." []	3199949	\N	\N	EFO	5	EFO	experimental factor	cell concentration unit
UO:0000201	\N	\N	"A unit of cell concentration which is equal to one cell in a volume of 1 milliliter." []	UO:0000201	"A unit of cell concentration which is equal to one cell in a volume of 1 milliliter." []	80405	\N	\N	EFO	0	EFO	cells per milliliter	cells per milliliter
UO:0000200	UO:0000201	\N	"A concentration unit which denotes the average cell number in a given volume." []	UO:0000201	"A unit of cell concentration which is equal to one cell in a volume of 1 milliliter." []	225198	\N	\N	EFO	1	EFO	cell concentration unit	cells per milliliter
UO:0000200	UO:0000201	\N	"A concentration unit which denotes the average cell number in a given volume." []	UO:0000201	"A unit of cell concentration which is equal to one cell in a volume of 1 milliliter." []	225199	\N	\N	EFO	1	EFO	cell concentration unit	cells per milliliter
UO:0000051	UO:0000200	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000201	"A unit of cell concentration which is equal to one cell in a volume of 1 milliliter." []	582091	\N	\N	EFO	2	EFO	concentration unit	cells per milliliter
UO:0000051	UO:0000200	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000201	"A unit of cell concentration which is equal to one cell in a volume of 1 milliliter." []	582092	\N	\N	EFO	2	EFO	concentration unit	cells per milliliter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000201	"A unit of cell concentration which is equal to one cell in a volume of 1 milliliter." []	1166083	\N	\N	EFO	3	EFO	derived unit	cells per milliliter
UO:0000000	UO:0000051	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000201	"A unit of cell concentration which is equal to one cell in a volume of 1 milliliter." []	1166084	\N	\N	EFO	3	EFO	unit	cells per milliliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000201	"A unit of cell concentration which is equal to one cell in a volume of 1 milliliter." []	2049994	\N	\N	EFO	4	EFO	unit	cells per milliliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000201	"A unit of cell concentration which is equal to one cell in a volume of 1 milliliter." []	3199950	\N	\N	EFO	5	EFO	information entity	cells per milliliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000201	"A unit of cell concentration which is equal to one cell in a volume of 1 milliliter." []	4404973	\N	\N	EFO	6	EFO	experimental factor	cells per milliliter
UO:0000207	\N	\N	"A volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution." []	UO:0000207	"A volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution." []	80406	\N	\N	EFO	0	EFO	milliliter per liter	milliliter per liter
UO:0000205	\N	\N	"A dimensionless concentration unit which denotes the given volume of the solute in the total volume of the resulting solution." [NIST:NIST]	UO:0000207	"A volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution." []	196372	\N	unit_group_slim	EFO	0	EFO	volume per unit volume	milliliter per liter
UO:0000051	UO:0000207	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000207	"A volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution." []	225200	\N	\N	EFO	1	EFO	concentration unit	milliliter per liter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000207	"A volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution." []	582093	\N	\N	EFO	2	EFO	derived unit	milliliter per liter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000207	"A volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution." []	1166085	\N	\N	EFO	3	EFO	unit	milliliter per liter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000207	"A volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution." []	2049995	\N	\N	EFO	4	EFO	information entity	milliliter per liter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000207	"A volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution." []	3199951	\N	\N	EFO	5	EFO	experimental factor	milliliter per liter
UO:0000209	\N	\N	"A volume unit which is equal to one tenth of a liter or 10^[-1] L." []	UO:0000209	"A volume unit which is equal to one tenth of a liter or 10^[-1] L." []	80407	\N	\N	EFO	0	EFO	deciliter	deciliter
UO:0000095	UO:0000209	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000209	"A volume unit which is equal to one tenth of a liter or 10^[-1] L." []	225201	\N	\N	EFO	1	EFO	volume unit	deciliter
UO:0000095	UO:0000209	\N	"A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." []	UO:0000209	"A volume unit which is equal to one tenth of a liter or 10^[-1] L." []	225202	\N	\N	EFO	1	EFO	volume unit	deciliter
UO:0000046	UO:0000095	\N	"A unit which is derived from base units." []	UO:0000209	"A volume unit which is equal to one tenth of a liter or 10^[-1] L." []	582094	\N	\N	EFO	2	EFO	derived unit	deciliter
UO:0000000	UO:0000095	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000209	"A volume unit which is equal to one tenth of a liter or 10^[-1] L." []	582095	\N	\N	EFO	2	EFO	unit	deciliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000209	"A volume unit which is equal to one tenth of a liter or 10^[-1] L." []	1166086	\N	\N	EFO	3	EFO	unit	deciliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000209	"A volume unit which is equal to one tenth of a liter or 10^[-1] L." []	2049996	\N	\N	EFO	4	EFO	information entity	deciliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000209	"A volume unit which is equal to one tenth of a liter or 10^[-1] L." []	3199952	\N	\N	EFO	5	EFO	experimental factor	deciliter
UO:0000210	\N	\N	"" []	UO:0000210	"" []	80408	\N	\N	EFO	0	EFO	colony forming unit	colony forming unit
UO:0000189	UO:0000210	\N	"A dimensionless unit which denotes a simple count of things." []	UO:0000210	"" []	225203	\N	\N	EFO	1	EFO	count unit	colony forming unit
UO:0000189	UO:0000210	\N	"A dimensionless unit which denotes a simple count of things." []	UO:0000210	"" []	225204	\N	\N	EFO	1	EFO	count unit	colony forming unit
UO:0000000	UO:0000189	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000210	"" []	582096	\N	\N	EFO	2	EFO	unit	colony forming unit
UO:0000186	UO:0000189	\N	"A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." []	UO:0000210	"" []	582097	\N	\N	EFO	2	EFO	dimensionless unit	colony forming unit
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000210	"" []	1166087	\N	\N	EFO	3	EFO	information entity	colony forming unit
UO:0000000	UO:0000186	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000210	"" []	1166088	\N	\N	EFO	3	EFO	unit	colony forming unit
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000210	"" []	2049997	\N	\N	EFO	4	EFO	experimental factor	colony forming unit
UO:0000213	\N	\N	"A colony forming unit which a measure of viable bacterial numbers in one milliliter." []	UO:0000213	"A colony forming unit which a measure of viable bacterial numbers in one milliliter." []	80409	\N	\N	EFO	0	EFO	colony forming unit per milliliter	colony forming unit per milliliter
UO:0000212	\N	\N	"A concentration unit which a measure of viable bacterial numbers in a given volume." [Wikipedia:Wikipedia]	UO:0000213	"A colony forming unit which a measure of viable bacterial numbers in one milliliter." []	196373	\N	unit_group_slim	EFO	0	EFO	colony forming unit per volume	colony forming unit per milliliter
UO:0000189	UO:0000213	\N	"A dimensionless unit which denotes a simple count of things." []	UO:0000213	"A colony forming unit which a measure of viable bacterial numbers in one milliliter." []	225205	\N	\N	EFO	1	EFO	count unit	colony forming unit per milliliter
UO:0000000	UO:0000189	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000213	"A colony forming unit which a measure of viable bacterial numbers in one milliliter." []	582098	\N	\N	EFO	2	EFO	unit	colony forming unit per milliliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000213	"A colony forming unit which a measure of viable bacterial numbers in one milliliter." []	1166089	\N	\N	EFO	3	EFO	information entity	colony forming unit per milliliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000213	"A colony forming unit which a measure of viable bacterial numbers in one milliliter." []	2049998	\N	\N	EFO	4	EFO	experimental factor	colony forming unit per milliliter
UO:0000221	\N	\N	"An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state." []	UO:0000221	"An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state." []	80410	\N	\N	EFO	0	EFO	dalton	dalton
UO:0000002	UO:0000221	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000221	"An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state." []	225206	\N	\N	EFO	1	EFO	mass unit	dalton
UO:0000002	UO:0000221	\N	"A unit which is a standard measure of the amount of matter/energy of a physical object." []	UO:0000221	"An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state." []	225207	\N	\N	EFO	1	EFO	mass unit	dalton
UO:0000045	UO:0000002	\N	"A unit which is one of a particular measure to which all measures of that type can be related." []	UO:0000221	"An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state." []	582099	\N	\N	EFO	2	EFO	base unit	dalton
UO:0000000	UO:0000002	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000221	"An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state." []	582100	\N	\N	EFO	2	EFO	unit	dalton
UO:0000000	UO:0000045	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000221	"An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state." []	1166090	\N	\N	EFO	3	EFO	unit	dalton
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000221	"An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state." []	2049999	\N	\N	EFO	4	EFO	information entity	dalton
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000221	"An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state." []	3199953	\N	\N	EFO	5	EFO	experimental factor	dalton
UO:0000273	\N	\N	"" []	UO:0000273	"" []	80411	\N	\N	EFO	0	EFO	milligram per liter	milligram per liter
UO:0000052	\N	\N	"A density unit which is a standard measure of the mass of a substance in a given volume." [UOC:GVG]	UO:0000273	"" []	196374	\N	unit_group_slim	EFO	0	EFO	mass density unit	milligram per liter
UO:0000051	UO:0000273	\N	"A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." []	UO:0000273	"" []	225208	\N	\N	EFO	1	EFO	concentration unit	milligram per liter
UO:0000046	UO:0000051	\N	"A unit which is derived from base units." []	UO:0000273	"" []	582101	\N	\N	EFO	2	EFO	derived unit	milligram per liter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000273	"" []	1166091	\N	\N	EFO	3	EFO	unit	milligram per liter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000273	"" []	2050000	\N	\N	EFO	4	EFO	information entity	milligram per liter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000273	"" []	3199954	\N	\N	EFO	5	EFO	experimental factor	milligram per liter
UO:0000274	\N	\N	"" []	UO:0000274	"" []	80412	\N	\N	EFO	0	EFO	microgram per milliliter	microgram per milliliter
UO:0000052	\N	\N	"A density unit which is a standard measure of the mass of a substance in a given volume." [UOC:GVG]	UO:0000274	"" []	196375	\N	unit_group_slim	EFO	0	EFO	mass density unit	microgram per milliliter
UO:0000182	UO:0000274	\N	"A unit which is a standard measure of the influence exerted by some mass." []	UO:0000274	"" []	225209	\N	\N	EFO	1	EFO	density unit	microgram per milliliter
UO:0000046	UO:0000182	\N	"A unit which is derived from base units." []	UO:0000274	"" []	582102	\N	\N	EFO	2	EFO	derived unit	microgram per milliliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000274	"" []	1166092	\N	\N	EFO	3	EFO	unit	microgram per milliliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000274	"" []	2050001	\N	\N	EFO	4	EFO	information entity	microgram per milliliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000274	"" []	3199955	\N	\N	EFO	5	EFO	experimental factor	microgram per milliliter
UO:0000275	\N	\N	"" []	UO:0000275	"" []	80413	\N	\N	EFO	0	EFO	nanogram per milliliter	nanogram per milliliter
UO:0000052	\N	\N	"A density unit which is a standard measure of the mass of a substance in a given volume." [UOC:GVG]	UO:0000275	"" []	196376	\N	unit_group_slim	EFO	0	EFO	mass density unit	nanogram per milliliter
UO:0000182	UO:0000275	\N	"A unit which is a standard measure of the influence exerted by some mass." []	UO:0000275	"" []	225210	\N	\N	EFO	1	EFO	density unit	nanogram per milliliter
UO:0000046	UO:0000182	\N	"A unit which is derived from base units." []	UO:0000275	"" []	582103	\N	\N	EFO	2	EFO	derived unit	nanogram per milliliter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000275	"" []	1166093	\N	\N	EFO	3	EFO	unit	nanogram per milliliter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000275	"" []	2050002	\N	\N	EFO	4	EFO	information entity	nanogram per milliliter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000275	"" []	3199956	\N	\N	EFO	5	EFO	experimental factor	nanogram per milliliter
UO:0000301	\N	\N	"A mass unit density which is equal to mass of an object in micrograms divided by the volume in liters." []	UO:0000301	"A mass unit density which is equal to mass of an object in micrograms divided by the volume in liters." []	80414	\N	\N	EFO	0	EFO	microgram per liter	microgram per liter
UO:0000052	\N	\N	"A density unit which is a standard measure of the mass of a substance in a given volume." [UOC:GVG]	UO:0000301	"A mass unit density which is equal to mass of an object in micrograms divided by the volume in liters." []	196377	\N	unit_group_slim	EFO	0	EFO	mass density unit	microgram per liter
UO:0000182	UO:0000301	\N	"A unit which is a standard measure of the influence exerted by some mass." []	UO:0000301	"A mass unit density which is equal to mass of an object in micrograms divided by the volume in liters." []	225211	\N	\N	EFO	1	EFO	density unit	microgram per liter
UO:0000046	UO:0000182	\N	"A unit which is derived from base units." []	UO:0000301	"A mass unit density which is equal to mass of an object in micrograms divided by the volume in liters." []	582104	\N	\N	EFO	2	EFO	derived unit	microgram per liter
UO:0000000	UO:0000046	\N	"A unit of measurement is a standardized quantity of a physical quality." []	UO:0000301	"A mass unit density which is equal to mass of an object in micrograms divided by the volume in liters." []	1166094	\N	\N	EFO	3	EFO	unit	microgram per liter
IAO:0000030	UO:0000000	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	UO:0000301	"A mass unit density which is equal to mass of an object in micrograms divided by the volume in liters." []	2050003	\N	\N	EFO	4	EFO	information entity	microgram per liter
EFO:0000001	IAO:0000030	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	UO:0000301	"A mass unit density which is equal to mass of an object in micrograms divided by the volume in liters." []	3199957	\N	\N	EFO	5	EFO	experimental factor	microgram per liter
WBls:0000003	\N	\N	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	WBls:0000003	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	80415	\N	\N	EFO	0	EFO	embryo Ce	embryo Ce
EFO:0005858	WBls:0000003	\N	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	WBls:0000003	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	225212	\N	\N	EFO	1	EFO	C. elegans embryo stage	embryo Ce
EFO:0007725	EFO:0005858	\N	"A life cycle stage that starts with fertilization and ends with the fully formed embryo." []	WBls:0000003	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	582105	\N	\N	EFO	2	EFO	embryo stage	embryo Ce
EFO:0000399	EFO:0007725	\N	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	WBls:0000003	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	1166095	\N	\N	EFO	3	EFO	developmental stage	embryo Ce
BFO:0000007	EFO:0000399	\N	"A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs." []	WBls:0000003	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	2050004	\N	\N	EFO	4	EFO	process	embryo Ce
EFO:0000001	BFO:0000007	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	WBls:0000003	"The whole period of embryogenesis, from the formation of an egg till its hatch. [ http://www.wormbase.org/db/gene/gene?name=wjc ] " []	3199958	\N	\N	EFO	5	EFO	experimental factor	embryo Ce
ZEA:0015075	\N	\N	"The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy)." []	ZEA:0015075	"The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy)." []	80416	\N	\N	EFO	0	EFO	cob	cob
EFO:0000998	ZEA:0015075	\N	"" []	ZEA:0015075	"The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy)." []	225213	\N	\N	EFO	1	EFO	plant reproductive system structure	cob
EFO:0000789	EFO:0000998	\N	"" []	ZEA:0015075	"The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy)." []	582106	\N	\N	EFO	2	EFO	plant component	cob
PO:0025131	EFO:0000998	\N	"An anatomical entity that is or was part of a plant." []	ZEA:0015075	"The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy)." []	582107	\N	\N	EFO	2	EFO	plant anatomical entity	cob
EFO:0000786	EFO:0000789	\N	"" []	ZEA:0015075	"The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy)." []	1166096	\N	\N	EFO	3	EFO	anatomy basic component	cob
EFO:0000786	PO:0025131	\N	"" []	ZEA:0015075	"The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy)." []	1166097	\N	\N	EFO	3	EFO	anatomy basic component	cob
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZEA:0015075	"The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy)." []	2050005	\N	\N	EFO	4	EFO	organism part	cob
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZEA:0015075	"The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy)." []	3199959	\N	\N	EFO	5	EFO	material entity	cob
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZEA:0015075	"The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy)." []	4404974	\N	\N	EFO	6	EFO	experimental factor	cob
ZFA:0000003	\N	\N	"" []	ZFA:0000003	"" []	80417	\N	\N	EFO	0	EFO	adaxial cells	adaxial cells
EFO:0000795	ZFA:0000003	\N	"Embryonic structure (body structure)" []	ZFA:0000003	"" []	225214	\N	\N	EFO	1	EFO	animal developmental tissue	adaxial cells
EFO:0000787	EFO:0000795	\N	"" []	ZFA:0000003	"" []	582108	\N	\N	EFO	2	EFO	animal component	adaxial cells
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000003	"" []	1166098	\N	\N	EFO	3	EFO	anatomy basic component	adaxial cells
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000003	"" []	2050006	\N	\N	EFO	4	EFO	organism part	adaxial cells
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000003	"" []	3199960	\N	\N	EFO	5	EFO	material entity	adaxial cells
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000003	"" []	4404975	\N	\N	EFO	6	EFO	experimental factor	adaxial cells
ZFA:0000023	\N	\N	"A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle." []	ZFA:0000023	"A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle." []	80418	\N	\N	EFO	0	EFO	forerunner cell group	forerunner cell group
EFO:0003332	ZFA:0000023	\N	"" []	ZFA:0000023	"A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle." []	225215	\N	\N	EFO	1	EFO	zebrafish embryonic structure	forerunner cell group
EFO:0003331	EFO:0003332	\N	"" []	ZFA:0000023	"A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle." []	582109	\N	\N	EFO	2	EFO	zebrafish component	forerunner cell group
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000023	"A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle." []	1166099	\N	\N	EFO	3	EFO	animal component	forerunner cell group
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000023	"A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle." []	2050007	\N	\N	EFO	4	EFO	anatomy basic component	forerunner cell group
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000023	"A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle." []	3199961	\N	\N	EFO	5	EFO	organism part	forerunner cell group
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000023	"A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle." []	4404976	\N	\N	EFO	6	EFO	material entity	forerunner cell group
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000023	"A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle." []	5420296	\N	\N	EFO	7	EFO	experimental factor	forerunner cell group
ZFA:0000085	\N	\N	"Apical ectodermal ridge that is part of the pectoral fin bud." []	ZFA:0000085	"Apical ectodermal ridge that is part of the pectoral fin bud." []	80419	\N	\N	EFO	0	EFO	apical ectodermal ridge pectoral fin bud	apical ectodermal ridge pectoral fin bud
EFO:0003331	ZFA:0000085	\N	"" []	ZFA:0000085	"Apical ectodermal ridge that is part of the pectoral fin bud." []	225216	\N	\N	EFO	1	EFO	zebrafish component	apical ectodermal ridge pectoral fin bud
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000085	"Apical ectodermal ridge that is part of the pectoral fin bud." []	582110	\N	\N	EFO	2	EFO	animal component	apical ectodermal ridge pectoral fin bud
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000085	"Apical ectodermal ridge that is part of the pectoral fin bud." []	1166100	\N	\N	EFO	3	EFO	anatomy basic component	apical ectodermal ridge pectoral fin bud
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000085	"Apical ectodermal ridge that is part of the pectoral fin bud." []	2050008	\N	\N	EFO	4	EFO	organism part	apical ectodermal ridge pectoral fin bud
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000085	"Apical ectodermal ridge that is part of the pectoral fin bud." []	3199962	\N	\N	EFO	5	EFO	material entity	apical ectodermal ridge pectoral fin bud
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000085	"Apical ectodermal ridge that is part of the pectoral fin bud." []	4404977	\N	\N	EFO	6	EFO	experimental factor	apical ectodermal ridge pectoral fin bud
ZFA:0000141	\N	\N	"" []	ZFA:0000141	"" []	80420	\N	\N	EFO	0	EFO	pectoral fin bud	pectoral fin bud
EFO:0003332	ZFA:0000141	\N	"" []	ZFA:0000141	"" []	225217	\N	\N	EFO	1	EFO	zebrafish embryonic structure	pectoral fin bud
EFO:0003331	EFO:0003332	\N	"" []	ZFA:0000141	"" []	582111	\N	\N	EFO	2	EFO	zebrafish component	pectoral fin bud
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000141	"" []	1166101	\N	\N	EFO	3	EFO	animal component	pectoral fin bud
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000141	"" []	2050009	\N	\N	EFO	4	EFO	anatomy basic component	pectoral fin bud
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000141	"" []	3199963	\N	\N	EFO	5	EFO	organism part	pectoral fin bud
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000141	"" []	4404978	\N	\N	EFO	6	EFO	material entity	pectoral fin bud
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000141	"" []	5420297	\N	\N	EFO	7	EFO	experimental factor	pectoral fin bud
ZFA:0000226	\N	\N	"Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales." []	ZFA:0000226	"Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales." []	80421	\N	\N	EFO	0	EFO	lateral ethmoid	lateral ethmoid
EFO:0003331	ZFA:0000226	\N	"" []	ZFA:0000226	"Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales." []	225218	\N	\N	EFO	1	EFO	zebrafish component	lateral ethmoid
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000226	"Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales." []	582112	\N	\N	EFO	2	EFO	animal component	lateral ethmoid
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000226	"Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales." []	1166102	\N	\N	EFO	3	EFO	anatomy basic component	lateral ethmoid
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000226	"Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales." []	2050010	\N	\N	EFO	4	EFO	organism part	lateral ethmoid
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000226	"Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales." []	3199964	\N	\N	EFO	5	EFO	material entity	lateral ethmoid
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000226	"Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales." []	4404979	\N	\N	EFO	6	EFO	experimental factor	lateral ethmoid
ZFA:0000257	\N	\N	"Cartilage which is part of the pectoral fin." []	ZFA:0000257	"Cartilage which is part of the pectoral fin." []	80422	\N	\N	EFO	0	EFO	pectoral fin cartilage	pectoral fin cartilage
EFO:0003331	ZFA:0000257	\N	"" []	ZFA:0000257	"Cartilage which is part of the pectoral fin." []	225219	\N	\N	EFO	1	EFO	zebrafish component	pectoral fin cartilage
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000257	"Cartilage which is part of the pectoral fin." []	582113	\N	\N	EFO	2	EFO	animal component	pectoral fin cartilage
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000257	"Cartilage which is part of the pectoral fin." []	1166103	\N	\N	EFO	3	EFO	anatomy basic component	pectoral fin cartilage
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000257	"Cartilage which is part of the pectoral fin." []	2050011	\N	\N	EFO	4	EFO	organism part	pectoral fin cartilage
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000257	"Cartilage which is part of the pectoral fin." []	3199965	\N	\N	EFO	5	EFO	material entity	pectoral fin cartilage
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000257	"Cartilage which is part of the pectoral fin." []	4404980	\N	\N	EFO	6	EFO	experimental factor	pectoral fin cartilage
ZFA:0000265	\N	\N	"" []	ZFA:0000265	"" []	80423	\N	\N	EFO	0	EFO	presumptive dorsal mesoderm	presumptive dorsal mesoderm
EFO:0003332	ZFA:0000265	\N	"" []	ZFA:0000265	"" []	225220	\N	\N	EFO	1	EFO	zebrafish embryonic structure	presumptive dorsal mesoderm
EFO:0003331	EFO:0003332	\N	"" []	ZFA:0000265	"" []	582114	\N	\N	EFO	2	EFO	zebrafish component	presumptive dorsal mesoderm
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000265	"" []	1166104	\N	\N	EFO	3	EFO	animal component	presumptive dorsal mesoderm
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000265	"" []	2050012	\N	\N	EFO	4	EFO	anatomy basic component	presumptive dorsal mesoderm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000265	"" []	3199966	\N	\N	EFO	5	EFO	organism part	presumptive dorsal mesoderm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000265	"" []	4404981	\N	\N	EFO	6	EFO	material entity	presumptive dorsal mesoderm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000265	"" []	5420298	\N	\N	EFO	7	EFO	experimental factor	presumptive dorsal mesoderm
ZFA:0000281	\N	\N	"Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	ZFA:0000281	"Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	80424	\N	\N	EFO	0	EFO	hair cell posterior macula	hair cell posterior macula
EFO:0003331	ZFA:0000281	\N	"" []	ZFA:0000281	"Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	225221	\N	\N	EFO	1	EFO	zebrafish component	hair cell posterior macula
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000281	"Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	582115	\N	\N	EFO	2	EFO	animal component	hair cell posterior macula
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000281	"Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	1166105	\N	\N	EFO	3	EFO	anatomy basic component	hair cell posterior macula
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000281	"Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	2050013	\N	\N	EFO	4	EFO	organism part	hair cell posterior macula
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000281	"Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	3199967	\N	\N	EFO	5	EFO	material entity	hair cell posterior macula
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000281	"Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	4404982	\N	\N	EFO	6	EFO	experimental factor	hair cell posterior macula
ZFA:0000407	\N	\N	"Subdivision of free upper limb, which is the proximal segment of an upper limb and links the free upper limb to the trunk; it is demarcated by the plane of the surface of the glenoid fossa from the free upper limb; together with the free upper limb, it constitutes the upper limb. Examples: There are only two instances, right and left pectoral girdles." []	ZFA:0000407	"Subdivision of free upper limb, which is the proximal segment of an upper limb and links the free upper limb to the trunk; it is demarcated by the plane of the surface of the glenoid fossa from the free upper limb; together with the free upper limb, it constitutes the upper limb. Examples: There are only two instances, right and left pectoral girdles." []	80425	\N	\N	EFO	0	EFO	pectoral girdle	pectoral girdle
EFO:0003858	ZFA:0000407	\N	"" []	ZFA:0000407	"Subdivision of free upper limb, which is the proximal segment of an upper limb and links the free upper limb to the trunk; it is demarcated by the plane of the surface of the glenoid fossa from the free upper limb; together with the free upper limb, it constitutes the upper limb. Examples: There are only two instances, right and left pectoral girdles." []	225222	\N	\N	EFO	1	EFO	skeleton structure	pectoral girdle
EFO:0000787	EFO:0003858	\N	"" []	ZFA:0000407	"Subdivision of free upper limb, which is the proximal segment of an upper limb and links the free upper limb to the trunk; it is demarcated by the plane of the surface of the glenoid fossa from the free upper limb; together with the free upper limb, it constitutes the upper limb. Examples: There are only two instances, right and left pectoral girdles." []	582116	\N	\N	EFO	2	EFO	animal component	pectoral girdle
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000407	"Subdivision of free upper limb, which is the proximal segment of an upper limb and links the free upper limb to the trunk; it is demarcated by the plane of the surface of the glenoid fossa from the free upper limb; together with the free upper limb, it constitutes the upper limb. Examples: There are only two instances, right and left pectoral girdles." []	1166106	\N	\N	EFO	3	EFO	anatomy basic component	pectoral girdle
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000407	"Subdivision of free upper limb, which is the proximal segment of an upper limb and links the free upper limb to the trunk; it is demarcated by the plane of the surface of the glenoid fossa from the free upper limb; together with the free upper limb, it constitutes the upper limb. Examples: There are only two instances, right and left pectoral girdles." []	2050014	\N	\N	EFO	4	EFO	organism part	pectoral girdle
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000407	"Subdivision of free upper limb, which is the proximal segment of an upper limb and links the free upper limb to the trunk; it is demarcated by the plane of the surface of the glenoid fossa from the free upper limb; together with the free upper limb, it constitutes the upper limb. Examples: There are only two instances, right and left pectoral girdles." []	3199968	\N	\N	EFO	5	EFO	material entity	pectoral girdle
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000407	"Subdivision of free upper limb, which is the proximal segment of an upper limb and links the free upper limb to the trunk; it is demarcated by the plane of the surface of the glenoid fossa from the free upper limb; together with the free upper limb, it constitutes the upper limb. Examples: There are only two instances, right and left pectoral girdles." []	4404983	\N	\N	EFO	6	EFO	experimental factor	pectoral girdle
ZFA:0000541	\N	\N	"Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres." []	ZFA:0000541	"Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres." []	80426	\N	\N	EFO	0	EFO	marginal blastomere	marginal blastomere
EFO:0003331	ZFA:0000541	\N	"" []	ZFA:0000541	"Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres." []	225223	\N	\N	EFO	1	EFO	zebrafish component	marginal blastomere
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000541	"Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres." []	582117	\N	\N	EFO	2	EFO	animal component	marginal blastomere
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000541	"Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres." []	1166107	\N	\N	EFO	3	EFO	anatomy basic component	marginal blastomere
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000541	"Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres." []	2050015	\N	\N	EFO	4	EFO	organism part	marginal blastomere
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000541	"Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres." []	3199969	\N	\N	EFO	5	EFO	material entity	marginal blastomere
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000541	"Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres." []	4404984	\N	\N	EFO	6	EFO	experimental factor	marginal blastomere
ZFA:0000563	\N	\N	"" []	ZFA:0000563	"" []	80427	\N	\N	EFO	0	EFO	pectoral fin musculature	pectoral fin musculature
EFO:0003331	ZFA:0000563	\N	"" []	ZFA:0000563	"" []	225224	\N	\N	EFO	1	EFO	zebrafish component	pectoral fin musculature
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000563	"" []	582118	\N	\N	EFO	2	EFO	animal component	pectoral fin musculature
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000563	"" []	1166108	\N	\N	EFO	3	EFO	anatomy basic component	pectoral fin musculature
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000563	"" []	2050016	\N	\N	EFO	4	EFO	organism part	pectoral fin musculature
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000563	"" []	3199970	\N	\N	EFO	5	EFO	material entity	pectoral fin musculature
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000563	"" []	4404985	\N	\N	EFO	6	EFO	experimental factor	pectoral fin musculature
ZFA:0000565	\N	\N	"Subdivision of free lower limb, which is the proximal segment of a lower limb and links the free lower limb to the trunk; it is demarcated by the plane of the surface of the acetabular fossa from the free lower limb; together with the free lower limb, it constitutes the lower limb. Examples: There are only two instances, right and left pelvic girdles." []	ZFA:0000565	"Subdivision of free lower limb, which is the proximal segment of a lower limb and links the free lower limb to the trunk; it is demarcated by the plane of the surface of the acetabular fossa from the free lower limb; together with the free lower limb, it constitutes the lower limb. Examples: There are only two instances, right and left pelvic girdles." []	80428	\N	\N	EFO	0	EFO	pelvic girdle	pelvic girdle
UBERON:0003464	ZFA:0000565	\N	"The bones of the upper and lower LEG. They include the PELVIC BONES." []	ZFA:0000565	"Subdivision of free lower limb, which is the proximal segment of a lower limb and links the free lower limb to the trunk; it is demarcated by the plane of the surface of the acetabular fossa from the free lower limb; together with the free lower limb, it constitutes the lower limb. Examples: There are only two instances, right and left pelvic girdles." []	225225	\N	\N	EFO	1	EFO	bone of lower extremity	pelvic girdle
ZFA:0000672	\N	\N	"The hyomandibula is the large, dorsal-most member of the hyoid arch.  It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints.  A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle." []	ZFA:0000672	"The hyomandibula is the large, dorsal-most member of the hyoid arch.  It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints.  A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle." []	80429	\N	\N	EFO	0	EFO	hyomandibula	hyomandibula
EFO:0003331	ZFA:0000672	\N	"" []	ZFA:0000672	"The hyomandibula is the large, dorsal-most member of the hyoid arch.  It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints.  A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle." []	225226	\N	\N	EFO	1	EFO	zebrafish component	hyomandibula
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000672	"The hyomandibula is the large, dorsal-most member of the hyoid arch.  It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints.  A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle." []	582119	\N	\N	EFO	2	EFO	animal component	hyomandibula
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000672	"The hyomandibula is the large, dorsal-most member of the hyoid arch.  It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints.  A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle." []	1166109	\N	\N	EFO	3	EFO	anatomy basic component	hyomandibula
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000672	"The hyomandibula is the large, dorsal-most member of the hyoid arch.  It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints.  A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle." []	2050017	\N	\N	EFO	4	EFO	organism part	hyomandibula
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000672	"The hyomandibula is the large, dorsal-most member of the hyoid arch.  It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints.  A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle." []	3199971	\N	\N	EFO	5	EFO	material entity	hyomandibula
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000672	"The hyomandibula is the large, dorsal-most member of the hyoid arch.  It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints.  A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle." []	4404986	\N	\N	EFO	6	EFO	experimental factor	hyomandibula
ZFA:0000678	\N	\N	"Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	ZFA:0000678	"Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	80430	\N	\N	EFO	0	EFO	hair cell anterior macula	hair cell anterior macula
EFO:0003331	ZFA:0000678	\N	"" []	ZFA:0000678	"Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	225227	\N	\N	EFO	1	EFO	zebrafish component	hair cell anterior macula
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000678	"Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	582120	\N	\N	EFO	2	EFO	animal component	hair cell anterior macula
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000678	"Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	1166110	\N	\N	EFO	3	EFO	anatomy basic component	hair cell anterior macula
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000678	"Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	2050018	\N	\N	EFO	4	EFO	organism part	hair cell anterior macula
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000678	"Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	3199972	\N	\N	EFO	5	EFO	material entity	hair cell anterior macula
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000678	"Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)" []	4404987	\N	\N	EFO	6	EFO	experimental factor	hair cell anterior macula
ZFA:0000778	\N	\N	"A CNS interneuron located in the spinal cord." []	ZFA:0000778	"A CNS interneuron located in the spinal cord." []	80431	\N	\N	EFO	0	EFO	spinal cord interneuron	spinal cord interneuron
EFO:0003331	ZFA:0000778	\N	"" []	ZFA:0000778	"A CNS interneuron located in the spinal cord." []	225228	\N	\N	EFO	1	EFO	zebrafish component	spinal cord interneuron
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000778	"A CNS interneuron located in the spinal cord." []	582121	\N	\N	EFO	2	EFO	animal component	spinal cord interneuron
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000778	"A CNS interneuron located in the spinal cord." []	1166111	\N	\N	EFO	3	EFO	anatomy basic component	spinal cord interneuron
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000778	"A CNS interneuron located in the spinal cord." []	2050019	\N	\N	EFO	4	EFO	organism part	spinal cord interneuron
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000778	"A CNS interneuron located in the spinal cord." []	3199973	\N	\N	EFO	5	EFO	material entity	spinal cord interneuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000778	"A CNS interneuron located in the spinal cord." []	4404988	\N	\N	EFO	6	EFO	experimental factor	spinal cord interneuron
ZFA:0000821	\N	\N	"" []	ZFA:0000821	"" []	80432	\N	\N	EFO	0	EFO	primary neuron hindbrain	primary neuron hindbrain
EFO:0003331	ZFA:0000821	\N	"" []	ZFA:0000821	"" []	225229	\N	\N	EFO	1	EFO	zebrafish component	primary neuron hindbrain
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000821	"" []	582122	\N	\N	EFO	2	EFO	animal component	primary neuron hindbrain
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000821	"" []	1166112	\N	\N	EFO	3	EFO	anatomy basic component	primary neuron hindbrain
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000821	"" []	2050020	\N	\N	EFO	4	EFO	organism part	primary neuron hindbrain
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000821	"" []	3199974	\N	\N	EFO	5	EFO	material entity	primary neuron hindbrain
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000821	"" []	4404989	\N	\N	EFO	6	EFO	experimental factor	primary neuron hindbrain
ZFA:0000841	\N	\N	"" []	ZFA:0000841	"" []	80433	\N	\N	EFO	0	EFO	slow muscle cell somite 14	slow muscle cell somite 14
EFO:0003331	ZFA:0000841	\N	"" []	ZFA:0000841	"" []	225230	\N	\N	EFO	1	EFO	zebrafish component	slow muscle cell somite 14
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000841	"" []	582123	\N	\N	EFO	2	EFO	animal component	slow muscle cell somite 14
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000841	"" []	1166113	\N	\N	EFO	3	EFO	anatomy basic component	slow muscle cell somite 14
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000841	"" []	2050021	\N	\N	EFO	4	EFO	organism part	slow muscle cell somite 14
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000841	"" []	3199975	\N	\N	EFO	5	EFO	material entity	slow muscle cell somite 14
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000841	"" []	4404990	\N	\N	EFO	6	EFO	experimental factor	slow muscle cell somite 14
ZFA:0000963	\N	\N	"" []	ZFA:0000963	"" []	80434	\N	\N	EFO	0	EFO	slow muscle cell somite 1	slow muscle cell somite 1
EFO:0003331	ZFA:0000963	\N	"" []	ZFA:0000963	"" []	225231	\N	\N	EFO	1	EFO	zebrafish component	slow muscle cell somite 1
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000963	"" []	582124	\N	\N	EFO	2	EFO	animal component	slow muscle cell somite 1
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000963	"" []	1166114	\N	\N	EFO	3	EFO	anatomy basic component	slow muscle cell somite 1
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000963	"" []	2050022	\N	\N	EFO	4	EFO	organism part	slow muscle cell somite 1
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000963	"" []	3199976	\N	\N	EFO	5	EFO	material entity	slow muscle cell somite 1
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000963	"" []	4404991	\N	\N	EFO	6	EFO	experimental factor	slow muscle cell somite 1
ZFA:0000972	\N	\N	"" []	ZFA:0000972	"" []	80435	\N	\N	EFO	0	EFO	slow muscle cell somite 4	slow muscle cell somite 4
EFO:0003331	ZFA:0000972	\N	"" []	ZFA:0000972	"" []	225232	\N	\N	EFO	1	EFO	zebrafish component	slow muscle cell somite 4
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000972	"" []	582125	\N	\N	EFO	2	EFO	animal component	slow muscle cell somite 4
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000972	"" []	1166115	\N	\N	EFO	3	EFO	anatomy basic component	slow muscle cell somite 4
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000972	"" []	2050023	\N	\N	EFO	4	EFO	organism part	slow muscle cell somite 4
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000972	"" []	3199977	\N	\N	EFO	5	EFO	material entity	slow muscle cell somite 4
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000972	"" []	4404992	\N	\N	EFO	6	EFO	experimental factor	slow muscle cell somite 4
ZFA:0000973	\N	\N	"" []	ZFA:0000973	"" []	80436	\N	\N	EFO	0	EFO	slow muscle cell somite 7	slow muscle cell somite 7
EFO:0003331	ZFA:0000973	\N	"" []	ZFA:0000973	"" []	225233	\N	\N	EFO	1	EFO	zebrafish component	slow muscle cell somite 7
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0000973	"" []	582126	\N	\N	EFO	2	EFO	animal component	slow muscle cell somite 7
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0000973	"" []	1166116	\N	\N	EFO	3	EFO	anatomy basic component	slow muscle cell somite 7
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0000973	"" []	2050024	\N	\N	EFO	4	EFO	organism part	slow muscle cell somite 7
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0000973	"" []	3199978	\N	\N	EFO	5	EFO	material entity	slow muscle cell somite 7
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0000973	"" []	4404993	\N	\N	EFO	6	EFO	experimental factor	slow muscle cell somite 7
ZFA:0001047	\N	\N	"" []	ZFA:0001047	"" []	80437	\N	\N	EFO	0	EFO	slow muscle cell somite 10	slow muscle cell somite 10
EFO:0003331	ZFA:0001047	\N	"" []	ZFA:0001047	"" []	225234	\N	\N	EFO	1	EFO	zebrafish component	slow muscle cell somite 10
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0001047	"" []	582127	\N	\N	EFO	2	EFO	animal component	slow muscle cell somite 10
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0001047	"" []	1166117	\N	\N	EFO	3	EFO	anatomy basic component	slow muscle cell somite 10
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0001047	"" []	2050025	\N	\N	EFO	4	EFO	organism part	slow muscle cell somite 10
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0001047	"" []	3199979	\N	\N	EFO	5	EFO	material entity	slow muscle cell somite 10
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0001047	"" []	4404994	\N	\N	EFO	6	EFO	experimental factor	slow muscle cell somite 10
ZFA:0001104	\N	\N	"" []	ZFA:0001104	"" []	80438	\N	\N	EFO	0	EFO	pharyngeal endoderm	pharyngeal endoderm
EFO:0003331	ZFA:0001104	\N	"" []	ZFA:0001104	"" []	225235	\N	\N	EFO	1	EFO	zebrafish component	pharyngeal endoderm
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0001104	"" []	582128	\N	\N	EFO	2	EFO	animal component	pharyngeal endoderm
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0001104	"" []	1166118	\N	\N	EFO	3	EFO	anatomy basic component	pharyngeal endoderm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0001104	"" []	2050026	\N	\N	EFO	4	EFO	organism part	pharyngeal endoderm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0001104	"" []	3199980	\N	\N	EFO	5	EFO	material entity	pharyngeal endoderm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0001104	"" []	4404995	\N	\N	EFO	6	EFO	experimental factor	pharyngeal endoderm
ZFA:0001244	\N	\N	"Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4." []	ZFA:0001244	"Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4." []	80439	\N	\N	EFO	0	EFO	epibranchial 5	epibranchial 5
EFO:0003331	ZFA:0001244	\N	"" []	ZFA:0001244	"Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4." []	225236	\N	\N	EFO	1	EFO	zebrafish component	epibranchial 5
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0001244	"Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4." []	582129	\N	\N	EFO	2	EFO	animal component	epibranchial 5
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0001244	"Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4." []	1166119	\N	\N	EFO	3	EFO	anatomy basic component	epibranchial 5
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0001244	"Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4." []	2050027	\N	\N	EFO	4	EFO	organism part	epibranchial 5
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0001244	"Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4." []	3199981	\N	\N	EFO	5	EFO	material entity	epibranchial 5
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0001244	"Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4." []	4404996	\N	\N	EFO	6	EFO	experimental factor	epibranchial 5
ZFA:0001269	\N	\N	"" []	ZFA:0001269	"" []	80440	\N	\N	EFO	0	EFO	regenerating fin	regenerating fin
EFO:0003331	ZFA:0001269	\N	"" []	ZFA:0001269	"" []	225237	\N	\N	EFO	1	EFO	zebrafish component	regenerating fin
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0001269	"" []	582130	\N	\N	EFO	2	EFO	animal component	regenerating fin
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0001269	"" []	1166120	\N	\N	EFO	3	EFO	anatomy basic component	regenerating fin
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0001269	"" []	2050028	\N	\N	EFO	4	EFO	organism part	regenerating fin
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0001269	"" []	3199982	\N	\N	EFO	5	EFO	material entity	regenerating fin
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0001269	"" []	4404997	\N	\N	EFO	6	EFO	experimental factor	regenerating fin
ZFA:0001273	\N	\N	"The ventral portion of the first pharyngeal arch, comprising the lower jaw." []	ZFA:0001273	"The ventral portion of the first pharyngeal arch, comprising the lower jaw." []	80441	\N	\N	EFO	0	EFO	ventral mandibular arch	ventral mandibular arch
EFO:0003331	ZFA:0001273	\N	"" []	ZFA:0001273	"The ventral portion of the first pharyngeal arch, comprising the lower jaw." []	225238	\N	\N	EFO	1	EFO	zebrafish component	ventral mandibular arch
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0001273	"The ventral portion of the first pharyngeal arch, comprising the lower jaw." []	582131	\N	\N	EFO	2	EFO	animal component	ventral mandibular arch
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0001273	"The ventral portion of the first pharyngeal arch, comprising the lower jaw." []	1166121	\N	\N	EFO	3	EFO	anatomy basic component	ventral mandibular arch
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0001273	"The ventral portion of the first pharyngeal arch, comprising the lower jaw." []	2050029	\N	\N	EFO	4	EFO	organism part	ventral mandibular arch
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0001273	"The ventral portion of the first pharyngeal arch, comprising the lower jaw." []	3199983	\N	\N	EFO	5	EFO	material entity	ventral mandibular arch
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0001273	"The ventral portion of the first pharyngeal arch, comprising the lower jaw." []	4404998	\N	\N	EFO	6	EFO	experimental factor	ventral mandibular arch
ZFA:0001369	\N	\N	"" []	ZFA:0001369	"" []	80442	\N	\N	EFO	0	EFO	anterior pancreatic bud	anterior pancreatic bud
EFO:0003332	ZFA:0001369	\N	"" []	ZFA:0001369	"" []	225239	\N	\N	EFO	1	EFO	zebrafish embryonic structure	anterior pancreatic bud
EFO:0003331	EFO:0003332	\N	"" []	ZFA:0001369	"" []	582132	\N	\N	EFO	2	EFO	zebrafish component	anterior pancreatic bud
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0001369	"" []	1166122	\N	\N	EFO	3	EFO	animal component	anterior pancreatic bud
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0001369	"" []	2050030	\N	\N	EFO	4	EFO	anatomy basic component	anterior pancreatic bud
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0001369	"" []	3199984	\N	\N	EFO	5	EFO	organism part	anterior pancreatic bud
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0001369	"" []	4404999	\N	\N	EFO	6	EFO	material entity	anterior pancreatic bud
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0001369	"" []	5420299	\N	\N	EFO	7	EFO	experimental factor	anterior pancreatic bud
ZFA:0001370	\N	\N	"" []	ZFA:0001370	"" []	80443	\N	\N	EFO	0	EFO	posterior pancreatic bud	posterior pancreatic bud
EFO:0003332	ZFA:0001370	\N	"" []	ZFA:0001370	"" []	225240	\N	\N	EFO	1	EFO	zebrafish embryonic structure	posterior pancreatic bud
EFO:0003331	EFO:0003332	\N	"" []	ZFA:0001370	"" []	582133	\N	\N	EFO	2	EFO	zebrafish component	posterior pancreatic bud
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0001370	"" []	1166123	\N	\N	EFO	3	EFO	animal component	posterior pancreatic bud
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0001370	"" []	2050031	\N	\N	EFO	4	EFO	anatomy basic component	posterior pancreatic bud
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0001370	"" []	3199985	\N	\N	EFO	5	EFO	organism part	posterior pancreatic bud
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0001370	"" []	4405000	\N	\N	EFO	6	EFO	material entity	posterior pancreatic bud
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0001370	"" []	5420300	\N	\N	EFO	7	EFO	experimental factor	posterior pancreatic bud
ZFA:0001384	\N	\N	"" []	ZFA:0001384	"" []	80444	\N	\N	EFO	0	EFO	pelvic fin bud	pelvic fin bud
EFO:0003332	ZFA:0001384	\N	"" []	ZFA:0001384	"" []	225241	\N	\N	EFO	1	EFO	zebrafish embryonic structure	pelvic fin bud
EFO:0003331	EFO:0003332	\N	"" []	ZFA:0001384	"" []	582134	\N	\N	EFO	2	EFO	zebrafish component	pelvic fin bud
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0001384	"" []	1166124	\N	\N	EFO	3	EFO	animal component	pelvic fin bud
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0001384	"" []	2050032	\N	\N	EFO	4	EFO	anatomy basic component	pelvic fin bud
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0001384	"" []	3199986	\N	\N	EFO	5	EFO	organism part	pelvic fin bud
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0001384	"" []	4405001	\N	\N	EFO	6	EFO	material entity	pelvic fin bud
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0001384	"" []	5420301	\N	\N	EFO	7	EFO	experimental factor	pelvic fin bud
ZFA:0001385	\N	\N	"Apical ectodermal ridge that is part of the pelvic fin bud." []	ZFA:0001385	"Apical ectodermal ridge that is part of the pelvic fin bud." []	80445	\N	\N	EFO	0	EFO	apical ectodermal ridge pelvic fin bud	apical ectodermal ridge pelvic fin bud
EFO:0003331	ZFA:0001385	\N	"" []	ZFA:0001385	"Apical ectodermal ridge that is part of the pelvic fin bud." []	225242	\N	\N	EFO	1	EFO	zebrafish component	apical ectodermal ridge pelvic fin bud
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0001385	"Apical ectodermal ridge that is part of the pelvic fin bud." []	582135	\N	\N	EFO	2	EFO	animal component	apical ectodermal ridge pelvic fin bud
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0001385	"Apical ectodermal ridge that is part of the pelvic fin bud." []	1166125	\N	\N	EFO	3	EFO	anatomy basic component	apical ectodermal ridge pelvic fin bud
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0001385	"Apical ectodermal ridge that is part of the pelvic fin bud." []	2050033	\N	\N	EFO	4	EFO	organism part	apical ectodermal ridge pelvic fin bud
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0001385	"Apical ectodermal ridge that is part of the pelvic fin bud." []	3199987	\N	\N	EFO	5	EFO	material entity	apical ectodermal ridge pelvic fin bud
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0001385	"Apical ectodermal ridge that is part of the pelvic fin bud." []	4405002	\N	\N	EFO	6	EFO	experimental factor	apical ectodermal ridge pelvic fin bud
ZFA:0001389	\N	\N	"" []	ZFA:0001389	"" []	80446	\N	\N	EFO	0	EFO	regeneration epithelium	regeneration epithelium
EFO:0003331	ZFA:0001389	\N	"" []	ZFA:0001389	"" []	225243	\N	\N	EFO	1	EFO	zebrafish component	regeneration epithelium
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0001389	"" []	582136	\N	\N	EFO	2	EFO	animal component	regeneration epithelium
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0001389	"" []	1166126	\N	\N	EFO	3	EFO	anatomy basic component	regeneration epithelium
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0001389	"" []	2050034	\N	\N	EFO	4	EFO	organism part	regeneration epithelium
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0001389	"" []	3199988	\N	\N	EFO	5	EFO	material entity	regeneration epithelium
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0001389	"" []	4405003	\N	\N	EFO	6	EFO	experimental factor	regeneration epithelium
ZFA:0001484	\N	\N	"Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres." []	ZFA:0001484	"Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres." []	80447	\N	\N	EFO	0	EFO	superficial blastomere	superficial blastomere
EFO:0003331	ZFA:0001484	\N	"" []	ZFA:0001484	"Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres." []	225244	\N	\N	EFO	1	EFO	zebrafish component	superficial blastomere
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0001484	"Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres." []	582137	\N	\N	EFO	2	EFO	animal component	superficial blastomere
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0001484	"Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres." []	1166127	\N	\N	EFO	3	EFO	anatomy basic component	superficial blastomere
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0001484	"Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres." []	2050035	\N	\N	EFO	4	EFO	organism part	superficial blastomere
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0001484	"Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres." []	3199989	\N	\N	EFO	5	EFO	material entity	superficial blastomere
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0001484	"Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres." []	4405004	\N	\N	EFO	6	EFO	experimental factor	superficial blastomere
ZFA:0005040	\N	\N	"" []	ZFA:0005040	"" []	80448	\N	\N	EFO	0	EFO	posterior lateral mesoderm	posterior lateral mesoderm
EFO:0003331	ZFA:0005040	\N	"" []	ZFA:0005040	"" []	225245	\N	\N	EFO	1	EFO	zebrafish component	posterior lateral mesoderm
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0005040	"" []	582138	\N	\N	EFO	2	EFO	animal component	posterior lateral mesoderm
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0005040	"" []	1166128	\N	\N	EFO	3	EFO	anatomy basic component	posterior lateral mesoderm
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0005040	"" []	2050036	\N	\N	EFO	4	EFO	organism part	posterior lateral mesoderm
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0005040	"" []	3199990	\N	\N	EFO	5	EFO	material entity	posterior lateral mesoderm
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0005040	"" []	4405005	\N	\N	EFO	6	EFO	experimental factor	posterior lateral mesoderm
ZFA:0009150	\N	\N	"" []	ZFA:0009150	"" []	80449	\N	\N	EFO	0	EFO	Rohon-Beard neuron	Rohon-Beard neuron
EFO:0003331	ZFA:0009150	\N	"" []	ZFA:0009150	"" []	225246	\N	\N	EFO	1	EFO	zebrafish component	Rohon-Beard neuron
EFO:0000787	EFO:0003331	\N	"" []	ZFA:0009150	"" []	582139	\N	\N	EFO	2	EFO	animal component	Rohon-Beard neuron
EFO:0000786	EFO:0000787	\N	"" []	ZFA:0009150	"" []	1166129	\N	\N	EFO	3	EFO	anatomy basic component	Rohon-Beard neuron
EFO:0000635	EFO:0000786	\N	"The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm)." []	ZFA:0009150	"" []	2050037	\N	\N	EFO	4	EFO	organism part	Rohon-Beard neuron
BFO:0000040	EFO:0000635	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	ZFA:0009150	"" []	3199991	\N	\N	EFO	5	EFO	material entity	Rohon-Beard neuron
EFO:0000001	BFO:0000040	\N	"An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change." []	ZFA:0009150	"" []	4405006	\N	\N	EFO	6	EFO	experimental factor	Rohon-Beard neuron
FBbt:00001685	\N	cur	"Hemocyte of the embryo and larva. Relatively large, irregularly shaped hemocyte (Brehelin, 1982). At the end of the third instar larval stage, plasmatocytes contains numerous inclusions, digitations and pinocytotic vesicles, well developed rough endoplasmic reticulum, Golgi apparatus and small lysosome-like bodies. By the end of the third instar period they also contain numerous phagosomes. Plasmatocytes represent 90-95% of all mature larval hemocytes. They function in the removal of dead cells and microbial pathogens." []	FBbt:00001685	"Hemocyte of the embryo and larva. Relatively large, irregularly shaped hemocyte (Brehelin, 1982). At the end of the third instar larval stage, plasmatocytes contains numerous inclusions, digitations and pinocytotic vesicles, well developed rough endoplasmic reticulum, Golgi apparatus and small lysosome-like bodies. By the end of the third instar period they also contain numerous phagosomes. Plasmatocytes represent 90-95% of all mature larval hemocytes. They function in the removal of dead cells and microbial pathogens." []	71415	\N	cur	fly_anatomy.ontology	0	EFO	plasmatocyte	plasmatocyte
EFO:0003335	\N	cur	"" []	FBbt:00001685	"Hemocyte of the embryo and larva. Relatively large, irregularly shaped hemocyte (Brehelin, 1982). At the end of the third instar larval stage, plasmatocytes contains numerous inclusions, digitations and pinocytotic vesicles, well developed rough endoplasmic reticulum, Golgi apparatus and small lysosome-like bodies. By the end of the third instar period they also contain numerous phagosomes. Plasmatocytes represent 90-95% of all mature larval hemocytes. They function in the removal of dead cells and microbial pathogens." []	194971	\N	\N	fly_anatomy.ontology	0	EFO	Drosophila embryonic structure	plasmatocyte
MPATH:0	\N	\N	"Pathological structure or process" [Pathbase: Curation]	MPATH:0	"Pathological structure or process" [Pathbase: Curation]	71541	\N	\N	mouse_pathology.ontology	0	EFO	pathological entity	pathological entity
BFO:0000040	\N	\N	"A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray." []	MPATH:0	"Pathological structure or process" [Pathbase: Curation]	195024	\N	\N	mouse_pathology.ontology	0	EFO	material entity	pathological entity
MPATH:212	\N	\N	"A tissue reaction to an internal or external injury." []	MPATH:212	"A tissue reaction to an internal or external injury." []	71542	\N	\N	mouse_pathology.ontology	0	EFO	inflammation (MPATH)	inflammation (MPATH)
MPATH:0	MPATH:212	\N	"Pathological structure or process" [Pathbase: Curation]	MPATH:212	"A tissue reaction to an internal or external injury." []	225430	\N	\N	mouse_pathology.ontology	1	EFO	pathological entity	inflammation (MPATH)
MPATH:579	\N	\N	"Loss of epithelium and the basement membrane (full thickness). Cf Erosion." [Pathbase: Pathology Committee]	MPATH:579	"Loss of epithelium and the basement membrane (full thickness). Cf Erosion." [Pathbase: Pathology Committee]	71543	\N	\N	mouse_pathology.ontology	0	EFO	ulcer	ulcer
MPATH:0	MPATH:579	\N	"Pathological structure or process" [Pathbase: Curation]	MPATH:579	"Loss of epithelium and the basement membrane (full thickness). Cf Erosion." [Pathbase: Pathology Committee]	225431	\N	\N	mouse_pathology.ontology	1	EFO	pathological entity	ulcer
NCBITaxon:100226	\N	\N	"" []	NCBITaxon:100226	"" []	71544	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces coelicolor A3(2)	Streptomyces coelicolor A3(2)
NCBITaxon:2	NCBITaxon:100226	\N	"" []	NCBITaxon:100226	"" []	225432	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces coelicolor A3(2)
NCBITaxon:10029	\N	\N	"" []	NCBITaxon:10029	"" []	71545	\N	\N	ncbi_taxonomy	0	EFO	Cricetulus griseus	Cricetulus griseus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:10029	"" []	195025	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cricetulus griseus
NCBITaxon:10036	\N	\N	"" []	NCBITaxon:10036	"" []	71546	\N	\N	ncbi_taxonomy	0	EFO	Mesocricetus auratus	Mesocricetus auratus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:10036	"" []	195026	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Mesocricetus auratus
NCBITaxon:10044	\N	\N	"" []	NCBITaxon:10044	"" []	71547	\N	\N	ncbi_taxonomy	0	EFO	Phodopus sungorus	Phodopus sungorus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:10044	"" []	195027	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Phodopus sungorus
NCBITaxon:10089	\N	\N	"" []	NCBITaxon:10089	"" []	71549	\N	\N	ncbi_taxonomy	0	EFO	Mus caroli	Mus caroli
NCBITaxon:10088	\N	\N	"Mus (commonly mice) is a small mammal belonging to the order of rodents." []	NCBITaxon:10089	"" []	195028	\N	\N	ncbi_taxonomy	0	EFO	Mus	Mus caroli
NCBITaxon:10090	\N	\N	"" []	NCBITaxon:10090	"" []	71550	\N	\N	ncbi_taxonomy	0	EFO	Mus musculus	Mus musculus
NCBITaxon:10088	\N	\N	"Mus (commonly mice) is a small mammal belonging to the order of rodents." []	NCBITaxon:10090	"" []	195029	\N	\N	ncbi_taxonomy	0	EFO	Mus	Mus musculus
NCBITaxon:10091	\N	\N	"" []	NCBITaxon:10091	"" []	71551	\N	\N	ncbi_taxonomy	0	EFO	Mus musculus castaneus	Mus musculus castaneus
EFO:0003013	\N	\N	"" []	NCBITaxon:10091	"" []	195030	\N	\N	ncbi_taxonomy	0	EFO	Mus musculus subspecies	Mus musculus castaneus
NCBITaxon:10092	\N	\N	"" []	NCBITaxon:10092	"" []	71552	\N	\N	ncbi_taxonomy	0	EFO	Mus musculus domesticus	Mus musculus domesticus
EFO:0003013	\N	\N	"" []	NCBITaxon:10092	"" []	195031	\N	\N	ncbi_taxonomy	0	EFO	Mus musculus subspecies	Mus musculus domesticus
NCBITaxon:10096	\N	\N	"" []	NCBITaxon:10096	"" []	71553	\N	\N	ncbi_taxonomy	0	EFO	Mus spretus	Mus spretus
EFO:0003013	\N	\N	"" []	NCBITaxon:10096	"" []	195032	\N	\N	ncbi_taxonomy	0	EFO	Mus musculus subspecies	Mus spretus
NCBITaxon:10112	\N	\N	"" []	NCBITaxon:10112	"" []	71554	\N	\N	ncbi_taxonomy	0	EFO	Mastomys natalensis	Mastomys natalensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:10112	"" []	195033	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Mastomys natalensis
NCBITaxon:10116	\N	\N	"" []	NCBITaxon:10116	"" []	71556	\N	\N	ncbi_taxonomy	0	EFO	Rattus norvegicus	Rattus norvegicus
NCBITaxon:10114	\N	\N	"" []	NCBITaxon:10116	"" []	195034	\N	\N	ncbi_taxonomy	0	EFO	Rattus	Rattus norvegicus
NCBITaxon:10117	\N	\N	"" []	NCBITaxon:10117	"" []	71557	\N	\N	ncbi_taxonomy	0	EFO	Rattus rattus	Rattus rattus
NCBITaxon:10114	\N	\N	"" []	NCBITaxon:10117	"" []	195035	\N	\N	ncbi_taxonomy	0	EFO	Rattus	Rattus rattus
NCBITaxon:101202	\N	\N	"" []	NCBITaxon:101202	"" []	71558	\N	\N	ncbi_taxonomy	0	EFO	Microsporum distortum	Microsporum distortum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:101202	"" []	195036	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Microsporum distortum
NCBITaxon:101269	\N	\N	"" []	NCBITaxon:101269	"" []	71559	\N	\N	ncbi_taxonomy	0	EFO	Lilium hybrid division VII	Lilium hybrid division VII
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:101269	"" []	195037	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Lilium hybrid division VII
NCBITaxon:101510	\N	\N	"" []	NCBITaxon:101510	"" []	71560	\N	\N	ncbi_taxonomy	0	EFO	Rhodococcus jostii RHA1	Rhodococcus jostii RHA1
NCBITaxon:2	NCBITaxon:101510	\N	"" []	NCBITaxon:101510	"" []	225433	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rhodococcus jostii RHA1
NCBITaxon:10181	\N	\N	"" []	NCBITaxon:10181	"" []	71561	\N	\N	ncbi_taxonomy	0	EFO	Heterocephalus glaber	Heterocephalus glaber
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:10181	"" []	195038	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Heterocephalus glaber
NCBITaxon:102106	\N	\N	"" []	NCBITaxon:102106	"" []	71562	\N	\N	ncbi_taxonomy	0	EFO	Collinsella	Collinsella
NCBITaxon:2	NCBITaxon:102106	\N	"" []	NCBITaxon:102106	"" []	225434	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Collinsella
NCBITaxon:10228	\N	\N	"" []	NCBITaxon:10228	"" []	71563	\N	\N	ncbi_taxonomy	0	EFO	Trichoplax adhaerens	Trichoplax adhaerens
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:10228	"" []	195039	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Trichoplax adhaerens
NCBITaxon:10239	\N	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10239	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	71564	\N	\N	ncbi_taxonomy	0	EFO	Virus	Virus
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:10239	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	195040	\N	\N	ncbi_taxonomy	0	EFO	organism	Virus
NCBITaxon:10252	\N	\N	"" []	NCBITaxon:10252	"" []	71565	\N	\N	ncbi_taxonomy	0	EFO	Vaccinia virus Lister	Vaccinia virus Lister
NCBITaxon:10239	NCBITaxon:10252	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10252	"" []	225435	\N	\N	ncbi_taxonomy	1	EFO	Virus	Vaccinia virus Lister
NCBITaxon:10298	\N	\N	"" []	NCBITaxon:10298	"" []	71566	\N	\N	ncbi_taxonomy	0	EFO	Human herpesvirus 1	Human herpesvirus 1
NCBITaxon:10239	NCBITaxon:10298	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10298	"" []	225436	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human herpesvirus 1
NCBITaxon:103349	\N	\N	"" []	NCBITaxon:103349	"" []	71567	\N	\N	ncbi_taxonomy	0	EFO	Vitis rotundifolia	Vitis rotundifolia
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:103349	"" []	195041	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Vitis rotundifolia
NCBITaxon:103351	\N	\N	"" []	NCBITaxon:103351	"" []	71568	\N	\N	ncbi_taxonomy	0	EFO	Vitis amurensis	Vitis amurensis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:103351	"" []	195042	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Vitis amurensis
NCBITaxon:10363	\N	\N	"" []	NCBITaxon:10363	"" []	71569	\N	\N	ncbi_taxonomy	0	EFO	Human herpesvirus 5 strain Towne	Human herpesvirus 5 strain Towne
NCBITaxon:10239	NCBITaxon:10363	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10363	"" []	225437	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human herpesvirus 5 strain Towne
NCBITaxon:10376	\N	\N	"" []	NCBITaxon:10376	"" []	71570	\N	\N	ncbi_taxonomy	0	EFO	Human herpesvirus 4	Human herpesvirus 4
NCBITaxon:10239	NCBITaxon:10376	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10376	"" []	225438	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human herpesvirus 4
NCBITaxon:103818	\N	\N	"" []	NCBITaxon:103818	"" []	71571	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus kimchii	Lactobacillus kimchii
NCBITaxon:2	NCBITaxon:103818	\N	"" []	NCBITaxon:103818	"" []	225439	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus kimchii
NCBITaxon:10383	\N	\N	"" []	NCBITaxon:10383	"" []	71572	\N	\N	ncbi_taxonomy	0	EFO	Herpesvirus saimiri (strain 11)	Herpesvirus saimiri (strain 11)
NCBITaxon:10239	NCBITaxon:10383	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10383	"" []	225440	\N	\N	ncbi_taxonomy	1	EFO	Virus	Herpesvirus saimiri (strain 11)
NCBITaxon:10398	\N	\N	"" []	NCBITaxon:10398	"" []	71573	\N	\N	ncbi_taxonomy	0	EFO	Ovine herpesvirus 2	Ovine herpesvirus 2
NCBITaxon:10239	NCBITaxon:10398	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10398	"" []	225441	\N	\N	ncbi_taxonomy	1	EFO	Virus	Ovine herpesvirus 2
NCBITaxon:104341	\N	\N	"" []	NCBITaxon:104341	"" []	71574	\N	\N	ncbi_taxonomy	0	EFO	Postia placenta	Postia placenta
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:104341	"" []	195043	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Postia placenta
NCBITaxon:104421	\N	\N	"" []	NCBITaxon:104421	"" []	71575	\N	\N	ncbi_taxonomy	0	EFO	Camponotus floridanus	Camponotus floridanus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:104421	"" []	195044	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Camponotus floridanus
NCBITaxon:104660	\N	\N	"" []	NCBITaxon:104660	"" []	71576	\N	\N	ncbi_taxonomy	0	EFO	Pinctada maxima	Pinctada maxima
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:104660	"" []	195045	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pinctada maxima
NCBITaxon:1047171	\N	\N	"" []	NCBITaxon:1047171	"" []	71577	\N	\N	ncbi_taxonomy	0	EFO	Zymoseptoria tritici	Zymoseptoria tritici
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:1047171	"" []	195046	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Zymoseptoria tritici
NCBITaxon:10487	\N	\N	"" []	NCBITaxon:10487	"" []	71578	\N	\N	ncbi_taxonomy	0	EFO	Iridovirus	Iridovirus
NCBITaxon:10239	NCBITaxon:10487	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10487	"" []	225442	\N	\N	ncbi_taxonomy	1	EFO	Virus	Iridovirus
NCBITaxon:104955	\N	\N	"" []	NCBITaxon:104955	"" []	71579	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus frumenti	Lactobacillus frumenti
NCBITaxon:2	NCBITaxon:104955	\N	"" []	NCBITaxon:104955	"" []	225443	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus frumenti
NCBITaxon:10506	\N	\N	"" []	NCBITaxon:10506	"" []	71580	\N	\N	ncbi_taxonomy	0	EFO	Paramecium bursaria Chlorella virus 1	Paramecium bursaria Chlorella virus 1
NCBITaxon:10239	NCBITaxon:10506	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10506	"" []	225444	\N	\N	ncbi_taxonomy	1	EFO	Virus	Paramecium bursaria Chlorella virus 1
NCBITaxon:10519	\N	\N	"" []	NCBITaxon:10519	"" []	71581	\N	\N	ncbi_taxonomy	0	EFO	Human adenovirus 7	Human adenovirus 7
NCBITaxon:10239	NCBITaxon:10519	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10519	"" []	225445	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human adenovirus 7
NCBITaxon:10524	\N	\N	"" []	NCBITaxon:10524	"" []	71582	\N	\N	ncbi_taxonomy	0	EFO	Human adenovirus 41	Human adenovirus 41
NCBITaxon:10239	NCBITaxon:10524	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10524	"" []	225446	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human adenovirus 41
NCBITaxon:10566	\N	\N	"" []	NCBITaxon:10566	"" []	71583	\N	\N	ncbi_taxonomy	0	EFO	Human papillomavirus	Human papillomavirus
NCBITaxon:10239	NCBITaxon:10566	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10566	"" []	225447	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human papillomavirus
NCBITaxon:10629	\N	\N	"" []	NCBITaxon:10629	"" []	71584	\N	\N	ncbi_taxonomy	0	EFO	BK polyomavirus	BK polyomavirus
NCBITaxon:10239	NCBITaxon:10629	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10629	"" []	225448	\N	\N	ncbi_taxonomy	1	EFO	Virus	BK polyomavirus
NCBITaxon:1063	\N	\N	"" []	NCBITaxon:1063	"" []	71585	\N	\N	ncbi_taxonomy	0	EFO	Rhodobacter sphaeroides	Rhodobacter sphaeroides
NCBITaxon:2	NCBITaxon:1063	\N	"" []	NCBITaxon:1063	"" []	225449	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rhodobacter sphaeroides
NCBITaxon:10662	\N	\N	"" []	NCBITaxon:10662	"" []	71586	\N	\N	ncbi_taxonomy	0	EFO	Myoviridae	Myoviridae
NCBITaxon:10239	NCBITaxon:10662	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10662	"" []	225450	\N	\N	ncbi_taxonomy	1	EFO	Virus	Myoviridae
NCBITaxon:106773	\N	\N	"" []	NCBITaxon:106773	"" []	71587	\N	\N	ncbi_taxonomy	0	EFO	Pachycladon cheesemanii	Pachycladon cheesemanii
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:106773	"" []	195047	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pachycladon cheesemanii
NCBITaxon:106787	\N	\N	"" []	NCBITaxon:106787	"" []	71588	\N	\N	ncbi_taxonomy	0	EFO	Pachycladon	Pachycladon
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:106787	"" []	195048	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pachycladon
NCBITaxon:106788	\N	\N	"" []	NCBITaxon:106788	"" []	71589	\N	\N	ncbi_taxonomy	0	EFO	Pachycladon novaezelandiae	Pachycladon novaezelandiae
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:106788	"" []	195049	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pachycladon novaezelandiae
NCBITaxon:107243	\N	\N	"" []	NCBITaxon:107243	"" []	71590	\N	\N	ncbi_taxonomy	0	EFO	Noccaea caerulescens	Noccaea caerulescens
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:107243	"" []	195050	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Noccaea caerulescens
NCBITaxon:10744	\N	\N	"" []	NCBITaxon:10744	"" []	71591	\N	\N	ncbi_taxonomy	0	EFO	Podoviridae	Podoviridae
NCBITaxon:10239	NCBITaxon:10744	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10744	"" []	225451	\N	\N	ncbi_taxonomy	1	EFO	Virus	Podoviridae
NCBITaxon:1076	\N	\N	"" []	NCBITaxon:1076	"" []	71592	\N	\N	ncbi_taxonomy	0	EFO	Rhodopseudomonas palustris	Rhodopseudomonas palustris
NCBITaxon:2	NCBITaxon:1076	\N	"" []	NCBITaxon:1076	"" []	225452	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rhodopseudomonas palustris
NCBITaxon:10832	\N	\N	"" []	NCBITaxon:10832	"" []	71593	\N	\N	ncbi_taxonomy	0	EFO	Tomato yellow leaf curl virus	Tomato yellow leaf curl virus
NCBITaxon:10239	NCBITaxon:10832	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:10832	"" []	225453	\N	\N	ncbi_taxonomy	1	EFO	Virus	Tomato yellow leaf curl virus
NCBITaxon:1085	\N	\N	"" []	NCBITaxon:1085	"" []	71594	\N	\N	ncbi_taxonomy	0	EFO	Rhodospirillum rubrum	Rhodospirillum rubrum
NCBITaxon:2	NCBITaxon:1085	\N	"" []	NCBITaxon:1085	"" []	225454	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rhodospirillum rubrum
NCBITaxon:108619	\N	\N	"" []	NCBITaxon:108619	"" []	71595	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Newport	Salmonella enterica subsp. enterica serovar Newport
NCBITaxon:2	NCBITaxon:108619	\N	"" []	NCBITaxon:108619	"" []	225455	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Newport
NCBITaxon:109174	\N	\N	"" []	NCBITaxon:109174	"" []	71596	\N	\N	ncbi_taxonomy	0	EFO	Haliotis asinina	Haliotis asinina
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:109174	"" []	195051	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Haliotis asinina
NCBITaxon:11053	\N	\N	"" []	NCBITaxon:11053	"" []	71597	\N	\N	ncbi_taxonomy	0	EFO	Dengue virus 1	Dengue virus 1
NCBITaxon:10239	NCBITaxon:11053	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11053	"" []	225456	\N	\N	ncbi_taxonomy	1	EFO	Virus	Dengue virus 1
NCBITaxon:11060	\N	\N	"" []	NCBITaxon:11060	"" []	71598	\N	\N	ncbi_taxonomy	0	EFO	Dengue virus 2	Dengue virus 2
NCBITaxon:10239	NCBITaxon:11060	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11060	"" []	225457	\N	\N	ncbi_taxonomy	1	EFO	Virus	Dengue virus 2
NCBITaxon:11069	\N	\N	"" []	NCBITaxon:11069	"" []	71599	\N	\N	ncbi_taxonomy	0	EFO	Dengue virus 3	Dengue virus 3
NCBITaxon:10239	NCBITaxon:11069	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11069	"" []	225458	\N	\N	ncbi_taxonomy	1	EFO	Virus	Dengue virus 3
NCBITaxon:11070	\N	\N	"" []	NCBITaxon:11070	"" []	71600	\N	\N	ncbi_taxonomy	0	EFO	Dengue virus 4	Dengue virus 4
NCBITaxon:10239	NCBITaxon:11070	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11070	"" []	225459	\N	\N	ncbi_taxonomy	1	EFO	Virus	Dengue virus 4
NCBITaxon:11082	\N	\N	"" []	NCBITaxon:11082	"" []	71601	\N	\N	ncbi_taxonomy	0	EFO	West Nile virus	West Nile virus
NCBITaxon:10239	NCBITaxon:11082	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11082	"" []	225460	\N	\N	ncbi_taxonomy	1	EFO	Virus	West Nile virus
NCBITaxon:11089	\N	\N	"" []	NCBITaxon:11089	"" []	71602	\N	\N	ncbi_taxonomy	0	EFO	Yellow fever virus	Yellow fever virus
NCBITaxon:10239	NCBITaxon:11089	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11089	"" []	225461	\N	\N	ncbi_taxonomy	1	EFO	Virus	Yellow fever virus
NCBITaxon:11099	\N	\N	"" []	NCBITaxon:11099	"" []	71603	\N	\N	ncbi_taxonomy	0	EFO	Bovine viral diarrhea virus 1	Bovine viral diarrhea virus 1
NCBITaxon:10239	NCBITaxon:11099	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11099	"" []	225462	\N	\N	ncbi_taxonomy	1	EFO	Virus	Bovine viral diarrhea virus 1
NCBITaxon:1117	\N	\N	"" []	NCBITaxon:1117	"" []	71605	\N	\N	ncbi_taxonomy	0	EFO	Cyanobacteria	Cyanobacteria
NCBITaxon:2	NCBITaxon:1117	\N	"" []	NCBITaxon:1117	"" []	225463	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Cyanobacteria
NCBITaxon:112407	\N	\N	"" []	NCBITaxon:112407	"" []	71606	\N	\N	ncbi_taxonomy	0	EFO	Cuscuta pentagona	Cuscuta pentagona
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:112407	"" []	195053	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Cuscuta pentagona
NCBITaxon:11260	\N	\N	"" []	NCBITaxon:11260	"" []	71608	\N	\N	ncbi_taxonomy	0	EFO	Human respiratory syncytial virus A strain Long	Human respiratory syncytial virus A strain Long
NCBITaxon:10239	NCBITaxon:11260	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11260	"" []	225464	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human respiratory syncytial virus A strain Long
NCBITaxon:11277	\N	\N	"" []	NCBITaxon:11277	"" []	71609	\N	\N	ncbi_taxonomy	0	EFO	Vesicular stomatitis Indiana virus	Vesicular stomatitis Indiana virus
NCBITaxon:10239	NCBITaxon:11277	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11277	"" []	225465	\N	\N	ncbi_taxonomy	1	EFO	Virus	Vesicular stomatitis Indiana virus
NCBITaxon:11292	\N	\N	"" []	NCBITaxon:11292	"" []	71610	\N	\N	ncbi_taxonomy	0	EFO	Rabies virus	Rabies virus
NCBITaxon:10239	NCBITaxon:11292	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11292	"" []	225466	\N	\N	ncbi_taxonomy	1	EFO	Virus	Rabies virus
NCBITaxon:11320	\N	\N	"" []	NCBITaxon:11320	"" []	71611	\N	\N	ncbi_taxonomy	0	EFO	Influenza A virus	Influenza A virus
NCBITaxon:10239	NCBITaxon:11320	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11320	"" []	225467	\N	\N	ncbi_taxonomy	1	EFO	Virus	Influenza A virus
NCBITaxon:113636	\N	\N	"" []	NCBITaxon:113636	"" []	71612	\N	\N	ncbi_taxonomy	0	EFO	Populus tremula	Populus tremula
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:113636	"" []	195054	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus tremula
NCBITaxon:1140	\N	\N	"" []	NCBITaxon:1140	"" []	71613	\N	\N	ncbi_taxonomy	0	EFO	Synechococcus elongatus PCC 7942	Synechococcus elongatus PCC 7942
NCBITaxon:2	NCBITaxon:1140	\N	"" []	NCBITaxon:1140	"" []	225468	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Synechococcus elongatus PCC 7942
NCBITaxon:114398	\N	\N	"" []	NCBITaxon:114398	"" []	71614	\N	\N	ncbi_taxonomy	0	EFO	Parasteatoda tepidariorum	Parasteatoda tepidariorum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:114398	"" []	195055	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Parasteatoda tepidariorum
NCBITaxon:114524	\N	\N	"" []	NCBITaxon:114524	"" []	71615	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces kudriavzevii	Saccharomyces kudriavzevii
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:114524	"" []	195056	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces kudriavzevii
NCBITaxon:114525	\N	\N	"" []	NCBITaxon:114525	"" []	71616	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces mikatae	Saccharomyces mikatae
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:114525	"" []	195057	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces mikatae
NCBITaxon:1148	\N	\N	"" []	NCBITaxon:1148	"" []	71617	\N	\N	ncbi_taxonomy	0	EFO	Synechocystis sp. PCC 6803	Synechocystis sp. PCC 6803
NCBITaxon:2	NCBITaxon:1148	\N	"" []	NCBITaxon:1148	"" []	225469	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Synechocystis sp. PCC 6803
NCBITaxon:11577	\N	\N	"" []	NCBITaxon:11577	"" []	71618	\N	\N	ncbi_taxonomy	0	EFO	La Crosse virus	La Crosse virus
NCBITaxon:10239	NCBITaxon:11577	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11577	"" []	225470	\N	\N	ncbi_taxonomy	1	EFO	Virus	La Crosse virus
NCBITaxon:115828	\N	\N	"" []	NCBITaxon:115828	"" []	71619	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces maritimus	Streptomyces maritimus
NCBITaxon:2	NCBITaxon:115828	\N	"" []	NCBITaxon:115828	"" []	225471	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces maritimus
NCBITaxon:11588	\N	\N	"" []	NCBITaxon:11588	"" []	71620	\N	\N	ncbi_taxonomy	0	EFO	Rift Valley fever virus	Rift Valley fever virus
NCBITaxon:10239	NCBITaxon:11588	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11588	"" []	225472	\N	\N	ncbi_taxonomy	1	EFO	Virus	Rift Valley fever virus
NCBITaxon:11590	\N	\N	"" []	NCBITaxon:11590	"" []	71621	\N	\N	ncbi_taxonomy	0	EFO	Toscana virus	Toscana virus
NCBITaxon:10239	NCBITaxon:11590	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11590	"" []	225473	\N	\N	ncbi_taxonomy	1	EFO	Virus	Toscana virus
NCBITaxon:11593	\N	\N	"" []	NCBITaxon:11593	"" []	71622	\N	\N	ncbi_taxonomy	0	EFO	Crimean-Congo hemorrhagic fever virus	Crimean-Congo hemorrhagic fever virus
NCBITaxon:10239	NCBITaxon:11593	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11593	"" []	225474	\N	\N	ncbi_taxonomy	1	EFO	Virus	Crimean-Congo hemorrhagic fever virus
NCBITaxon:115981	\N	\N	"" []	NCBITaxon:115981	"" []	71623	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Montevideo	Salmonella enterica subsp. enterica serovar Montevideo
NCBITaxon:2	NCBITaxon:115981	\N	"" []	NCBITaxon:115981	"" []	225475	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Montevideo
NCBITaxon:11599	\N	\N	"" []	NCBITaxon:11599	"" []	71624	\N	\N	ncbi_taxonomy	0	EFO	Hantaan virus	Hantaan virus
NCBITaxon:10239	NCBITaxon:11599	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11599	"" []	225476	\N	\N	ncbi_taxonomy	1	EFO	Virus	Hantaan virus
NCBITaxon:11604	\N	\N	"" []	NCBITaxon:11604	"" []	71625	\N	\N	ncbi_taxonomy	0	EFO	Puumala virus	Puumala virus
NCBITaxon:10239	NCBITaxon:11604	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11604	"" []	225477	\N	\N	ncbi_taxonomy	1	EFO	Virus	Puumala virus
NCBITaxon:11608	\N	\N	"" []	NCBITaxon:11608	"" []	71626	\N	\N	ncbi_taxonomy	0	EFO	Seoul virus	Seoul virus
NCBITaxon:10239	NCBITaxon:11608	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11608	"" []	225478	\N	\N	ncbi_taxonomy	1	EFO	Virus	Seoul virus
NCBITaxon:11613	\N	\N	"" []	NCBITaxon:11613	"" []	71627	\N	\N	ncbi_taxonomy	0	EFO	Tomato spotted wilt virus	Tomato spotted wilt virus
NCBITaxon:10239	NCBITaxon:11613	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11613	"" []	225479	\N	\N	ncbi_taxonomy	1	EFO	Virus	Tomato spotted wilt virus
NCBITaxon:11619	\N	\N	"" []	NCBITaxon:11619	"" []	71628	\N	\N	ncbi_taxonomy	0	EFO	Junin virus	Junin virus
NCBITaxon:10239	NCBITaxon:11619	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11619	"" []	225480	\N	\N	ncbi_taxonomy	1	EFO	Virus	Junin virus
NCBITaxon:11620	\N	\N	"" []	NCBITaxon:11620	"" []	71629	\N	\N	ncbi_taxonomy	0	EFO	Lassa virus	Lassa virus
NCBITaxon:10239	NCBITaxon:11620	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11620	"" []	225481	\N	\N	ncbi_taxonomy	1	EFO	Virus	Lassa virus
NCBITaxon:11622	\N	\N	"" []	NCBITaxon:11622	"" []	71630	\N	\N	ncbi_taxonomy	0	EFO	Lassa virus Josiah	Lassa virus Josiah
NCBITaxon:10239	NCBITaxon:11622	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11622	"" []	225482	\N	\N	ncbi_taxonomy	1	EFO	Virus	Lassa virus Josiah
NCBITaxon:11623	\N	\N	"" []	NCBITaxon:11623	"" []	71631	\N	\N	ncbi_taxonomy	0	EFO	Lymphocytic choriomeningitis virus	Lymphocytic choriomeningitis virus
NCBITaxon:10239	NCBITaxon:11623	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11623	"" []	225483	\N	\N	ncbi_taxonomy	1	EFO	Virus	Lymphocytic choriomeningitis virus
NCBITaxon:11628	\N	\N	"" []	NCBITaxon:11628	"" []	71632	\N	\N	ncbi_taxonomy	0	EFO	Machupo virus	Machupo virus
NCBITaxon:10239	NCBITaxon:11628	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11628	"" []	225484	\N	\N	ncbi_taxonomy	1	EFO	Virus	Machupo virus
NCBITaxon:11629	\N	\N	"" []	NCBITaxon:11629	"" []	71633	\N	\N	ncbi_taxonomy	0	EFO	Mopeia virus	Mopeia virus
NCBITaxon:10239	NCBITaxon:11629	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11629	"" []	225485	\N	\N	ncbi_taxonomy	1	EFO	Virus	Mopeia virus
NCBITaxon:11631	\N	\N	"" []	NCBITaxon:11631	"" []	71634	\N	\N	ncbi_taxonomy	0	EFO	Tacaribe virus	Tacaribe virus
NCBITaxon:10239	NCBITaxon:11631	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11631	"" []	225486	\N	\N	ncbi_taxonomy	1	EFO	Virus	Tacaribe virus
NCBITaxon:117187	\N	\N	"" []	NCBITaxon:117187	"" []	71635	\N	\N	ncbi_taxonomy	0	EFO	Gibberella moniliformis	Gibberella moniliformis
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:117187	"" []	195058	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Gibberella moniliformis
NCBITaxon:118062	\N	\N	"" []	NCBITaxon:118062	"" []	71636	\N	\N	ncbi_taxonomy	0	EFO	Methanobacterium congolense	Methanobacterium congolense
NCBITaxon:2157	NCBITaxon:118062	\N	"" []	NCBITaxon:118062	"" []	225487	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Methanobacterium congolense
NCBITaxon:119219	\N	\N	"" []	NCBITaxon:119219	"" []	71637	\N	\N	ncbi_taxonomy	0	EFO	Cupriavidus metallidurans	Cupriavidus metallidurans
NCBITaxon:2	NCBITaxon:119219	\N	"" []	NCBITaxon:119219	"" []	225488	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Cupriavidus metallidurans
NCBITaxon:119602	\N	\N	"" []	NCBITaxon:119602	"" []	71638	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus dysgalactiae subsp. equisimilis	Streptococcus dysgalactiae subsp. equisimilis
NCBITaxon:2	NCBITaxon:119602	\N	"" []	NCBITaxon:119602	"" []	225489	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus dysgalactiae subsp. equisimilis
NCBITaxon:119676	\N	\N	"" []	NCBITaxon:119676	"" []	71639	\N	\N	ncbi_taxonomy	0	EFO	Arthroderma obtusum	Arthroderma obtusum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:119676	"" []	195059	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Arthroderma obtusum
NCBITaxon:11987	\N	\N	"" []	NCBITaxon:11987	"" []	71640	\N	\N	ncbi_taxonomy	0	EFO	Melon necrotic spot virus	Melon necrotic spot virus
NCBITaxon:10239	NCBITaxon:11987	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:11987	"" []	225490	\N	\N	ncbi_taxonomy	1	EFO	Virus	Melon necrotic spot virus
NCBITaxon:119912	\N	\N	"" []	NCBITaxon:119912	"" []	71641	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Choleraesuis	Salmonella enterica subsp. enterica serovar Choleraesuis
NCBITaxon:2	NCBITaxon:119912	\N	"" []	NCBITaxon:119912	"" []	225491	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Choleraesuis
NCBITaxon:120794	\N	\N	"" []	NCBITaxon:120794	"" []	71642	\N	\N	ncbi_taxonomy	0	EFO	Falco rusticolus	Falco rusticolus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:120794	"" []	195060	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Falco rusticolus
NCBITaxon:12139	\N	\N	"" []	NCBITaxon:12139	"" []	71643	\N	\N	ncbi_taxonomy	0	EFO	Southern bean mosaic virus	Southern bean mosaic virus
NCBITaxon:10239	NCBITaxon:12139	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12139	"" []	225492	\N	\N	ncbi_taxonomy	1	EFO	Virus	Southern bean mosaic virus
NCBITaxon:12144	\N	\N	"" []	NCBITaxon:12144	"" []	71644	\N	\N	ncbi_taxonomy	0	EFO	Cymbidium ringspot virus	Cymbidium ringspot virus
NCBITaxon:10239	NCBITaxon:12144	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12144	"" []	225493	\N	\N	ncbi_taxonomy	1	EFO	Virus	Cymbidium ringspot virus
NCBITaxon:121540	\N	\N	"" []	NCBITaxon:121540	"" []	71645	\N	\N	ncbi_taxonomy	0	EFO	Senecio aethnensis	Senecio aethnensis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:121540	"" []	195061	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Senecio aethnensis
NCBITaxon:121541	\N	\N	"" []	NCBITaxon:121541	"" []	71646	\N	\N	ncbi_taxonomy	0	EFO	Senecio chrysanthemifolius	Senecio chrysanthemifolius
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:121541	"" []	195062	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Senecio chrysanthemifolius
NCBITaxon:121555	\N	\N	"" []	NCBITaxon:121555	"" []	71647	\N	\N	ncbi_taxonomy	0	EFO	Senecio squalidus subsp. squalidus	Senecio squalidus subsp. squalidus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:121555	"" []	195063	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Senecio squalidus subsp. squalidus
NCBITaxon:121558	\N	\N	"" []	NCBITaxon:121558	"" []	71648	\N	\N	ncbi_taxonomy	0	EFO	Senecio vulgaris subsp. vulgaris	Senecio vulgaris subsp. vulgaris
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:121558	"" []	195064	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Senecio vulgaris subsp. vulgaris
NCBITaxon:121627	\N	\N	"" []	NCBITaxon:121627	"" []	71649	\N	\N	ncbi_taxonomy	0	EFO	Penicillium rugulosum	Penicillium rugulosum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:121627	"" []	195065	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Penicillium rugulosum
NCBITaxon:121759	\N	\N	"" []	NCBITaxon:121759	"" []	71650	\N	\N	ncbi_taxonomy	0	EFO	Paracoccidioides brasiliensis	Paracoccidioides brasiliensis
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:121759	"" []	195066	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Paracoccidioides brasiliensis
NCBITaxon:12183	\N	\N	"" []	NCBITaxon:12183	"" []	71651	\N	\N	ncbi_taxonomy	0	EFO	Potato virus X	Potato virus X
NCBITaxon:10239	NCBITaxon:12183	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12183	"" []	225494	\N	\N	ncbi_taxonomy	1	EFO	Virus	Potato virus X
NCBITaxon:1219	\N	\N	"" []	NCBITaxon:1219	"" []	71652	\N	\N	ncbi_taxonomy	0	EFO	Prochlorococcus marinus	Prochlorococcus marinus
NCBITaxon:2	NCBITaxon:1219	\N	"" []	NCBITaxon:1219	"" []	225495	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Prochlorococcus marinus
NCBITaxon:12211	\N	\N	"" []	NCBITaxon:12211	"" []	71653	\N	\N	ncbi_taxonomy	0	EFO	Plum pox virus	Plum pox virus
NCBITaxon:10239	NCBITaxon:12211	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12211	"" []	225496	\N	\N	ncbi_taxonomy	1	EFO	Virus	Plum pox virus
NCBITaxon:12230	\N	\N	"" []	NCBITaxon:12230	"" []	71654	\N	\N	ncbi_taxonomy	0	EFO	Turnip mosaic virus	Turnip mosaic virus
NCBITaxon:10239	NCBITaxon:12230	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12230	"" []	225497	\N	\N	ncbi_taxonomy	1	EFO	Virus	Turnip mosaic virus
NCBITaxon:12239	\N	\N	"" []	NCBITaxon:12239	"" []	71655	\N	\N	ncbi_taxonomy	0	EFO	Pepper mild mottle virus	Pepper mild mottle virus
NCBITaxon:10239	NCBITaxon:12239	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12239	"" []	225498	\N	\N	ncbi_taxonomy	1	EFO	Virus	Pepper mild mottle virus
NCBITaxon:12242	\N	\N	"" []	NCBITaxon:12242	"" []	71656	\N	\N	ncbi_taxonomy	0	EFO	Tobacco mosaic virus	Tobacco mosaic virus
NCBITaxon:10239	NCBITaxon:12242	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12242	"" []	225499	\N	\N	ncbi_taxonomy	1	EFO	Virus	Tobacco mosaic virus
NCBITaxon:122586	\N	\N	"" []	NCBITaxon:122586	"" []	71657	\N	\N	ncbi_taxonomy	0	EFO	Neisseria meningitidis MC58	Neisseria meningitidis MC58
NCBITaxon:2	NCBITaxon:122586	\N	"" []	NCBITaxon:122586	"" []	225500	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Neisseria meningitidis MC58
NCBITaxon:12260	\N	\N	"" []	NCBITaxon:12260	"" []	71658	\N	\N	ncbi_taxonomy	0	EFO	Bean pod mottle virus	Bean pod mottle virus
NCBITaxon:10239	NCBITaxon:12260	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12260	"" []	225501	\N	\N	ncbi_taxonomy	1	EFO	Virus	Bean pod mottle virus
NCBITaxon:12271	\N	\N	"" []	NCBITaxon:12271	"" []	71659	\N	\N	ncbi_taxonomy	0	EFO	Arabis mosaic virus	Arabis mosaic virus
NCBITaxon:10239	NCBITaxon:12271	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12271	"" []	225502	\N	\N	ncbi_taxonomy	1	EFO	Virus	Arabis mosaic virus
NCBITaxon:12280	\N	\N	"" []	NCBITaxon:12280	"" []	71660	\N	\N	ncbi_taxonomy	0	EFO	Tomato ringspot virus	Tomato ringspot virus
NCBITaxon:10239	NCBITaxon:12280	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12280	"" []	225503	\N	\N	ncbi_taxonomy	1	EFO	Virus	Tomato ringspot virus
NCBITaxon:12282	\N	\N	"" []	NCBITaxon:12282	"" []	71661	\N	\N	ncbi_taxonomy	0	EFO	Tobacco ringspot virus	Tobacco ringspot virus
NCBITaxon:10239	NCBITaxon:12282	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12282	"" []	225504	\N	\N	ncbi_taxonomy	1	EFO	Virus	Tobacco ringspot virus
NCBITaxon:12287	\N	\N	"" []	NCBITaxon:12287	"" []	71662	\N	\N	ncbi_taxonomy	0	EFO	Flock house virus	Flock house virus
NCBITaxon:10239	NCBITaxon:12287	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12287	"" []	225505	\N	\N	ncbi_taxonomy	1	EFO	Virus	Flock house virus
NCBITaxon:12295	\N	\N	"" []	NCBITaxon:12295	"" []	71663	\N	\N	ncbi_taxonomy	0	EFO	Tobacco rattle virus	Tobacco rattle virus
NCBITaxon:10239	NCBITaxon:12295	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12295	"" []	225506	\N	\N	ncbi_taxonomy	1	EFO	Virus	Tobacco rattle virus
NCBITaxon:12305	\N	\N	"" []	NCBITaxon:12305	"" []	71664	\N	\N	ncbi_taxonomy	0	EFO	Cucumber mosaic virus	Cucumber mosaic virus
NCBITaxon:10239	NCBITaxon:12305	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12305	"" []	225507	\N	\N	ncbi_taxonomy	1	EFO	Virus	Cucumber mosaic virus
NCBITaxon:12307	\N	\N	"" []	NCBITaxon:12307	"" []	71665	\N	\N	ncbi_taxonomy	0	EFO	Cucumber mosaic virus (strain FNY)	Cucumber mosaic virus (strain FNY)
NCBITaxon:10239	NCBITaxon:12307	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12307	"" []	225508	\N	\N	ncbi_taxonomy	1	EFO	Virus	Cucumber mosaic virus (strain FNY)
NCBITaxon:1245	\N	\N	"" []	NCBITaxon:1245	"" []	71666	\N	\N	ncbi_taxonomy	0	EFO	Leuconostoc mesenteroides	Leuconostoc mesenteroides
NCBITaxon:2	NCBITaxon:1245	\N	"" []	NCBITaxon:1245	"" []	225509	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Leuconostoc mesenteroides
NCBITaxon:1247	\N	\N	"" []	NCBITaxon:1247	"" []	71667	\N	\N	ncbi_taxonomy	0	EFO	Oenococcus oeni	Oenococcus oeni
NCBITaxon:2	NCBITaxon:1247	\N	"" []	NCBITaxon:1247	"" []	225510	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Oenococcus oeni
NCBITaxon:12538	\N	\N	"" []	NCBITaxon:12538	"" []	71668	\N	\N	ncbi_taxonomy	0	EFO	Mokola virus	Mokola virus
NCBITaxon:10239	NCBITaxon:12538	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12538	"" []	225511	\N	\N	ncbi_taxonomy	1	EFO	Virus	Mokola virus
NCBITaxon:1254	\N	\N	"" []	NCBITaxon:1254	"" []	71669	\N	\N	ncbi_taxonomy	0	EFO	Pediococcus acidilactici	Pediococcus acidilactici
NCBITaxon:2	NCBITaxon:1254	\N	"" []	NCBITaxon:1254	"" []	225512	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pediococcus acidilactici
NCBITaxon:12542	\N	\N	"" []	NCBITaxon:12542	"" []	71670	\N	\N	ncbi_taxonomy	0	EFO	Omsk hemorrhagic fever virus	Omsk hemorrhagic fever virus
NCBITaxon:10239	NCBITaxon:12542	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:12542	"" []	225513	\N	\N	ncbi_taxonomy	1	EFO	Virus	Omsk hemorrhagic fever virus
NCBITaxon:1255	\N	\N	"" []	NCBITaxon:1255	"" []	71671	\N	\N	ncbi_taxonomy	0	EFO	Pediococcus pentosaceus	Pediococcus pentosaceus
NCBITaxon:2	NCBITaxon:1255	\N	"" []	NCBITaxon:1255	"" []	225514	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pediococcus pentosaceus
NCBITaxon:1263	\N	\N	"" []	NCBITaxon:1263	"" []	71672	\N	\N	ncbi_taxonomy	0	EFO	Ruminococcus	Ruminococcus
NCBITaxon:2	NCBITaxon:1263	\N	"" []	NCBITaxon:1263	"" []	225515	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ruminococcus
NCBITaxon:1265	\N	\N	"" []	NCBITaxon:1265	"" []	71673	\N	\N	ncbi_taxonomy	0	EFO	Ruminococcus flavefaciens	Ruminococcus flavefaciens
NCBITaxon:2	NCBITaxon:1265	\N	"" []	NCBITaxon:1265	"" []	225516	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ruminococcus flavefaciens
NCBITaxon:126740	\N	\N	"" []	NCBITaxon:126740	"" []	71674	\N	\N	ncbi_taxonomy	0	EFO	Thermotoga sp. RQ2	Thermotoga sp. RQ2
NCBITaxon:2	NCBITaxon:126740	\N	"" []	NCBITaxon:126740	"" []	225517	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Thermotoga sp. RQ2
NCBITaxon:1270	\N	\N	"" []	NCBITaxon:1270	"" []	71675	\N	\N	ncbi_taxonomy	0	EFO	Micrococcus luteus	Micrococcus luteus
NCBITaxon:2	NCBITaxon:1270	\N	"" []	NCBITaxon:1270	"" []	225518	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Micrococcus luteus
NCBITaxon:1280	\N	\N	"" []	NCBITaxon:1280	"" []	71677	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus aureus	Staphylococcus aureus
NCBITaxon:2	NCBITaxon:1280	\N	"" []	NCBITaxon:1280	"" []	225519	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus aureus
NCBITaxon:1281	\N	\N	"" []	NCBITaxon:1281	"" []	71678	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus carnosus	Staphylococcus carnosus
NCBITaxon:2	NCBITaxon:1281	\N	"" []	NCBITaxon:1281	"" []	225520	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus carnosus
NCBITaxon:1282	\N	\N	"" []	NCBITaxon:1282	"" []	71679	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus epidermidis	Staphylococcus epidermidis
NCBITaxon:2	NCBITaxon:1282	\N	"" []	NCBITaxon:1282	"" []	225521	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus epidermidis
NCBITaxon:1283	\N	\N	"" []	NCBITaxon:1283	"" []	71680	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus haemolyticus	Staphylococcus haemolyticus
NCBITaxon:2	NCBITaxon:1283	\N	"" []	NCBITaxon:1283	"" []	225522	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus haemolyticus
NCBITaxon:128735	\N	\N	"" []	NCBITaxon:128735	"" []	71681	\N	\N	ncbi_taxonomy	0	EFO	Rosa hybrid cultivar	Rosa hybrid cultivar
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:128735	"" []	195068	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Rosa hybrid cultivar
NCBITaxon:128947	\N	\N	"" []	NCBITaxon:128947	"" []	71682	\N	\N	ncbi_taxonomy	0	EFO	Zaire ebolavirus - Gabon (1994-1997)	Zaire ebolavirus - Gabon (1994-1997)
NCBITaxon:10239	NCBITaxon:128947	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:128947	"" []	225523	\N	\N	ncbi_taxonomy	1	EFO	Virus	Zaire ebolavirus - Gabon (1994-1997)
NCBITaxon:129105	\N	\N	"" []	NCBITaxon:129105	"" []	71684	\N	\N	ncbi_taxonomy	0	EFO	Drosophila santomea	Drosophila santomea
NCBITaxon:7215	NCBITaxon:129105	\N	"" []	NCBITaxon:129105	"" []	225524	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila santomea
NCBITaxon:129213	\N	\N	"" []	NCBITaxon:129213	"" []	71686	\N	\N	ncbi_taxonomy	0	EFO	Polytrichum juniperinum	Polytrichum juniperinum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:129213	"" []	195069	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Polytrichum juniperinum
NCBITaxon:1298	\N	\N	"" []	NCBITaxon:1298	"" []	71688	\N	\N	ncbi_taxonomy	0	EFO	Deinococcus	Deinococcus
NCBITaxon:2	NCBITaxon:1298	\N	"" []	NCBITaxon:1298	"" []	225525	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Deinococcus
NCBITaxon:1299	\N	\N	"" []	NCBITaxon:1299	"" []	71689	\N	\N	ncbi_taxonomy	0	EFO	Deinococcus radiodurans	Deinococcus radiodurans
NCBITaxon:2	NCBITaxon:1299	\N	"" []	NCBITaxon:1299	"" []	225526	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Deinococcus radiodurans
NCBITaxon:1302	\N	\N	"" []	NCBITaxon:1302	"" []	71690	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus gordonii	Streptococcus gordonii
NCBITaxon:2	NCBITaxon:1302	\N	"" []	NCBITaxon:1302	"" []	225527	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus gordonii
NCBITaxon:1303	\N	\N	"" []	NCBITaxon:1303	"" []	71691	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus oralis	Streptococcus oralis
NCBITaxon:2	NCBITaxon:1303	\N	"" []	NCBITaxon:1303	"" []	225528	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus oralis
NCBITaxon:13037	\N	\N	"" []	NCBITaxon:13037	"" []	71692	\N	\N	ncbi_taxonomy	0	EFO	Danaus plexippus	Danaus plexippus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:13037	"" []	195070	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Danaus plexippus
NCBITaxon:1305	\N	\N	"" []	NCBITaxon:1305	"" []	71693	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus sanguinis	Streptococcus sanguinis
NCBITaxon:2	NCBITaxon:1305	\N	"" []	NCBITaxon:1305	"" []	225529	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus sanguinis
NCBITaxon:1307	\N	\N	"" []	NCBITaxon:1307	"" []	71694	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus suis	Streptococcus suis
NCBITaxon:2	NCBITaxon:1307	\N	"" []	NCBITaxon:1307	"" []	225530	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus suis
NCBITaxon:1308	\N	\N	"" []	NCBITaxon:1308	"" []	71695	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus thermophilus	Streptococcus thermophilus
NCBITaxon:2	NCBITaxon:1308	\N	"" []	NCBITaxon:1308	"" []	225531	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus thermophilus
NCBITaxon:1309	\N	\N	"" []	NCBITaxon:1309	"" []	71696	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus mutans	Streptococcus mutans
NCBITaxon:2	NCBITaxon:1309	\N	"" []	NCBITaxon:1309	"" []	225532	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus mutans
NCBITaxon:13095	\N	\N	"" []	NCBITaxon:13095	"" []	71697	\N	\N	ncbi_taxonomy	0	EFO	Hypophthalmichthys molitrix	Hypophthalmichthys molitrix
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:13095	"" []	195071	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Hypophthalmichthys molitrix
NCBITaxon:1311	\N	\N	"" []	NCBITaxon:1311	"" []	71698	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus agalactiae	Streptococcus agalactiae
NCBITaxon:2	NCBITaxon:1311	\N	"" []	NCBITaxon:1311	"" []	225533	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus agalactiae
NCBITaxon:1313	\N	\N	"" []	NCBITaxon:1313	"" []	71699	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus pneumoniae	Streptococcus pneumoniae
NCBITaxon:2	NCBITaxon:1313	\N	"" []	NCBITaxon:1313	"" []	225534	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus pneumoniae
NCBITaxon:1314	\N	\N	"" []	NCBITaxon:1314	"" []	71700	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus pyogenes	Streptococcus pyogenes
NCBITaxon:2	NCBITaxon:1314	\N	"" []	NCBITaxon:1314	"" []	225535	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus pyogenes
NCBITaxon:13146	\N	\N	"" []	NCBITaxon:13146	"" []	71701	\N	\N	ncbi_taxonomy	0	EFO	Melopsittacus undulatus	Melopsittacus undulatus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:13146	"" []	195072	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Melopsittacus undulatus
NCBITaxon:13164	\N	\N	"" []	NCBITaxon:13164	"" []	71702	\N	\N	ncbi_taxonomy	0	EFO	Myzus persicae	Myzus persicae
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:13164	"" []	195073	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Myzus persicae
NCBITaxon:132919	\N	\N	"" []	NCBITaxon:132919	"" []	71704	\N	\N	ncbi_taxonomy	0	EFO	Rhodococcus jostii	Rhodococcus jostii
NCBITaxon:2	NCBITaxon:132919	\N	"" []	NCBITaxon:132919	"" []	225536	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rhodococcus jostii
NCBITaxon:13333	\N	\N	"" []	NCBITaxon:13333	"" []	71705	\N	\N	ncbi_taxonomy	0	EFO	Amborella trichopoda	Amborella trichopoda
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:13333	"" []	195074	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Amborella trichopoda
NCBITaxon:1336	\N	\N	"" []	NCBITaxon:1336	"" []	71706	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus equi	Streptococcus equi
NCBITaxon:2	NCBITaxon:1336	\N	"" []	NCBITaxon:1336	"" []	225537	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus equi
NCBITaxon:13373	\N	\N	"" []	NCBITaxon:13373	"" []	71707	\N	\N	ncbi_taxonomy	0	EFO	Burkholderia mallei	Burkholderia mallei
NCBITaxon:2	NCBITaxon:13373	\N	"" []	NCBITaxon:13373	"" []	225538	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Burkholderia mallei
NCBITaxon:13427	\N	\N	"" []	NCBITaxon:13427	"" []	71708	\N	\N	ncbi_taxonomy	0	EFO	Cichorium intybus	Cichorium intybus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:13427	"" []	195075	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Cichorium intybus
NCBITaxon:13442	\N	\N	"" []	NCBITaxon:13442	"" []	71709	\N	\N	ncbi_taxonomy	0	EFO	Coffea	Coffea
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:13442	"" []	195076	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Coffea
NCBITaxon:13443	\N	\N	"" []	NCBITaxon:13443	"" []	71710	\N	\N	ncbi_taxonomy	0	EFO	Coffea arabica	Coffea arabica
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:13443	"" []	195077	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Coffea arabica
NCBITaxon:134821	\N	\N	"" []	NCBITaxon:134821	"" []	71711	\N	\N	ncbi_taxonomy	0	EFO	Ureaplasma parvum	Ureaplasma parvum
NCBITaxon:2	NCBITaxon:134821	\N	"" []	NCBITaxon:134821	"" []	225539	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ureaplasma parvum
NCBITaxon:13489	\N	\N	"" []	NCBITaxon:13489	"" []	71712	\N	\N	ncbi_taxonomy	0	EFO	Dicentrarchus labrax	Dicentrarchus labrax
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:13489	"" []	195078	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Dicentrarchus labrax
NCBITaxon:1351	\N	\N	"" []	NCBITaxon:1351	"" []	71713	\N	\N	ncbi_taxonomy	0	EFO	Enterococcus faecalis	Enterococcus faecalis
NCBITaxon:2	NCBITaxon:1351	\N	"" []	NCBITaxon:1351	"" []	225540	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Enterococcus faecalis
NCBITaxon:1352	\N	\N	"" []	NCBITaxon:1352	"" []	71714	\N	\N	ncbi_taxonomy	0	EFO	Enterococcus faecium	Enterococcus faecium
NCBITaxon:2	NCBITaxon:1352	\N	"" []	NCBITaxon:1352	"" []	225541	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Enterococcus faecium
NCBITaxon:1354	\N	\N	"" []	NCBITaxon:1354	"" []	71715	\N	\N	ncbi_taxonomy	0	EFO	Enterococcus hirae	Enterococcus hirae
NCBITaxon:2	NCBITaxon:1354	\N	"" []	NCBITaxon:1354	"" []	225542	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Enterococcus hirae
NCBITaxon:1358	\N	\N	"" []	NCBITaxon:1358	"" []	71716	\N	\N	ncbi_taxonomy	0	EFO	Lactococcus lactis	Lactococcus lactis
NCBITaxon:2	NCBITaxon:1358	\N	"" []	NCBITaxon:1358	"" []	225543	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactococcus lactis
NCBITaxon:1359	\N	\N	"" []	NCBITaxon:1359	"" []	71717	\N	\N	ncbi_taxonomy	0	EFO	Lactococcus lactis subsp. cremoris	Lactococcus lactis subsp. cremoris
NCBITaxon:2	NCBITaxon:1359	\N	"" []	NCBITaxon:1359	"" []	225544	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactococcus lactis subsp. cremoris
NCBITaxon:1360	\N	\N	"" []	NCBITaxon:1360	"" []	71718	\N	\N	ncbi_taxonomy	0	EFO	Lactococcus lactis subsp. lactis	Lactococcus lactis subsp. lactis
NCBITaxon:2	NCBITaxon:1360	\N	"" []	NCBITaxon:1360	"" []	225545	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactococcus lactis subsp. lactis
NCBITaxon:13616	\N	\N	"" []	NCBITaxon:13616	"" []	71719	\N	\N	ncbi_taxonomy	0	EFO	Monodelphis domestica	Monodelphis domestica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:13616	"" []	195079	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Monodelphis domestica
NCBITaxon:136217	\N	\N	"" []	NCBITaxon:136217	"" []	71720	\N	\N	ncbi_taxonomy	0	EFO	Curcuma longa	Curcuma longa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:136217	"" []	195080	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Curcuma longa
NCBITaxon:1363	\N	\N	"" []	NCBITaxon:1363	"" []	71721	\N	\N	ncbi_taxonomy	0	EFO	Lactococcus garvieae	Lactococcus garvieae
NCBITaxon:2	NCBITaxon:1363	\N	"" []	NCBITaxon:1363	"" []	225546	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactococcus garvieae
NCBITaxon:13642	\N	\N	"" []	NCBITaxon:13642	"" []	71722	\N	\N	ncbi_taxonomy	0	EFO	Polysphondylium pallidum	Polysphondylium pallidum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:13642	"" []	195081	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Polysphondylium pallidum
NCBITaxon:13686	\N	\N	"" []	NCBITaxon:13686	"" []	71723	\N	\N	ncbi_taxonomy	0	EFO	Solenopsis invicta	Solenopsis invicta
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:13686	"" []	195082	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Solenopsis invicta
NCBITaxon:13689	\N	\N	"" []	NCBITaxon:13689	"" []	71724	\N	\N	ncbi_taxonomy	0	EFO	Sphingomonas paucimobilis	Sphingomonas paucimobilis
NCBITaxon:2	NCBITaxon:13689	\N	"" []	NCBITaxon:13689	"" []	225547	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Sphingomonas paucimobilis
NCBITaxon:137520	\N	\N	"" []	NCBITaxon:137520	"" []	71725	\N	\N	ncbi_taxonomy	0	EFO	Hypomesus transpacificus	Hypomesus transpacificus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:137520	"" []	195083	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Hypomesus transpacificus
NCBITaxon:13773	\N	\N	"" []	NCBITaxon:13773	"" []	71726	\N	\N	ncbi_taxonomy	0	EFO	Pyrobaculum aerophilum	Pyrobaculum aerophilum
NCBITaxon:2157	NCBITaxon:13773	\N	"" []	NCBITaxon:13773	"" []	225548	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Pyrobaculum aerophilum
NCBITaxon:13816	\N	\N	"" []	NCBITaxon:13816	"" []	71727	\N	\N	ncbi_taxonomy	0	EFO	Marsilea quadrifolia	Marsilea quadrifolia
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:13816	"" []	195084	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Marsilea quadrifolia
NCBITaxon:139	\N	\N	"" []	NCBITaxon:139	"" []	71729	\N	\N	ncbi_taxonomy	0	EFO	Borrelia burgdorferi	Borrelia burgdorferi
NCBITaxon:2	NCBITaxon:139	\N	"" []	NCBITaxon:139	"" []	225549	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Borrelia burgdorferi
NCBITaxon:1390	\N	\N	"" []	NCBITaxon:1390	"" []	71730	\N	\N	ncbi_taxonomy	0	EFO	Bacillus amyloliquefaciens	Bacillus amyloliquefaciens
NCBITaxon:2	NCBITaxon:1390	\N	"" []	NCBITaxon:1390	"" []	225550	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacillus amyloliquefaciens
NCBITaxon:1392	\N	\N	"" []	NCBITaxon:1392	"" []	71731	\N	\N	ncbi_taxonomy	0	EFO	Bacillus anthracis	Bacillus anthracis
NCBITaxon:2	NCBITaxon:1392	\N	"" []	NCBITaxon:1392	"" []	225551	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacillus anthracis
NCBITaxon:1396	\N	\N	"" []	NCBITaxon:1396	"" []	71732	\N	\N	ncbi_taxonomy	0	EFO	Bacillus cereus	Bacillus cereus
NCBITaxon:2	NCBITaxon:1396	\N	"" []	NCBITaxon:1396	"" []	225552	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacillus cereus
NCBITaxon:139649	\N	\N	"" []	NCBITaxon:139649	"" []	71733	\N	\N	ncbi_taxonomy	0	EFO	Teleopsis dalmanni	Teleopsis dalmanni
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:139649	"" []	195085	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Teleopsis dalmanni
NCBITaxon:139650	\N	\N	"" []	NCBITaxon:139650	"" []	71734	\N	\N	ncbi_taxonomy	0	EFO	Teleopsis quinqueguttata	Teleopsis quinqueguttata
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:139650	"" []	195086	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Teleopsis quinqueguttata
NCBITaxon:139651	\N	\N	"" []	NCBITaxon:139651	"" []	71735	\N	\N	ncbi_taxonomy	0	EFO	Teleopsis whitei	Teleopsis whitei
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:139651	"" []	195087	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Teleopsis whitei
NCBITaxon:141655	\N	\N	"" []	NCBITaxon:141655	"" []	71736	\N	\N	ncbi_taxonomy	0	EFO	Cervus elaphus hispanicus	Cervus elaphus hispanicus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:141655	"" []	195088	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cervus elaphus hispanicus
NCBITaxon:1423	\N	\N	"" []	NCBITaxon:1423	"" []	71738	\N	\N	ncbi_taxonomy	0	EFO	Bacillus subtilis	Bacillus subtilis
NCBITaxon:2	NCBITaxon:1423	\N	"" []	NCBITaxon:1423	"" []	225553	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacillus subtilis
NCBITaxon:1428	\N	\N	"" []	NCBITaxon:1428	"" []	71739	\N	\N	ncbi_taxonomy	0	EFO	Bacillus thuringiensis	Bacillus thuringiensis
NCBITaxon:2	NCBITaxon:1428	\N	"" []	NCBITaxon:1428	"" []	225554	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacillus thuringiensis
NCBITaxon:143623	\N	\N	"" []	NCBITaxon:143623	"" []	71741	\N	\N	ncbi_taxonomy	0	EFO	Maylandia	Maylandia
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:143623	"" []	195089	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Maylandia
NCBITaxon:145942	\N	\N	"" []	NCBITaxon:145942	"" []	71742	\N	\N	ncbi_taxonomy	0	EFO	Ophrys fusca	Ophrys fusca
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:145942	"" []	195090	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Ophrys fusca
NCBITaxon:146500	\N	\N	"" []	NCBITaxon:146500	"" []	71743	\N	\N	ncbi_taxonomy	0	EFO	Watermelon mosaic virus	Watermelon mosaic virus
NCBITaxon:10239	NCBITaxon:146500	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:146500	"" []	225555	\N	\N	ncbi_taxonomy	1	EFO	Virus	Watermelon mosaic virus
NCBITaxon:146821	\N	\N	"" []	NCBITaxon:146821	"" []	71744	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces reticuliscabiei	Streptomyces reticuliscabiei
NCBITaxon:2	NCBITaxon:146821	\N	"" []	NCBITaxon:146821	"" []	225556	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces reticuliscabiei
NCBITaxon:147452	\N	\N	"" []	NCBITaxon:147452	"" []	71745	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus saprophyticus subsp. saprophyticus	Staphylococcus saprophyticus subsp. saprophyticus
NCBITaxon:2	NCBITaxon:147452	\N	"" []	NCBITaxon:147452	"" []	225557	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus saprophyticus subsp. saprophyticus
NCBITaxon:148305	\N	\N	"" []	NCBITaxon:148305	"" []	71747	\N	\N	ncbi_taxonomy	0	EFO	Magnaporthe grisea	Magnaporthe grisea
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:148305	"" []	195091	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Magnaporthe grisea
NCBITaxon:1488	\N	\N	"" []	NCBITaxon:1488	"" []	71748	\N	\N	ncbi_taxonomy	0	EFO	Clostridium acetobutylicum	Clostridium acetobutylicum
NCBITaxon:2	NCBITaxon:1488	\N	"" []	NCBITaxon:1488	"" []	225558	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium acetobutylicum
NCBITaxon:1491	\N	\N	"" []	NCBITaxon:1491	"" []	71749	\N	\N	ncbi_taxonomy	0	EFO	Clostridium botulinum	Clostridium botulinum
NCBITaxon:2	NCBITaxon:1491	\N	"" []	NCBITaxon:1491	"" []	225559	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium botulinum
NCBITaxon:1492	\N	\N	"" []	NCBITaxon:1492	"" []	71750	\N	\N	ncbi_taxonomy	0	EFO	Clostridium butyricum	Clostridium butyricum
NCBITaxon:2	NCBITaxon:1492	\N	"" []	NCBITaxon:1492	"" []	225560	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium butyricum
NCBITaxon:149539	\N	\N	"" []	NCBITaxon:149539	"" []	71751	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Enteritidis	Salmonella enterica subsp. enterica serovar Enteritidis
NCBITaxon:2	NCBITaxon:149539	\N	"" []	NCBITaxon:149539	"" []	225561	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Enteritidis
NCBITaxon:1496	\N	\N	"" []	NCBITaxon:1496	"" []	71752	\N	\N	ncbi_taxonomy	0	EFO	Clostridium difficile	Clostridium difficile
NCBITaxon:2	NCBITaxon:1496	\N	"" []	NCBITaxon:1496	"" []	225562	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium difficile
NCBITaxon:1502	\N	\N	"" []	NCBITaxon:1502	"" []	71753	\N	\N	ncbi_taxonomy	0	EFO	Clostridium perfringens	Clostridium perfringens
NCBITaxon:2	NCBITaxon:1502	\N	"" []	NCBITaxon:1502	"" []	225563	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium perfringens
NCBITaxon:1509	\N	\N	"" []	NCBITaxon:1509	"" []	71754	\N	\N	ncbi_taxonomy	0	EFO	Clostridium sporogenes	Clostridium sporogenes
NCBITaxon:2	NCBITaxon:1509	\N	"" []	NCBITaxon:1509	"" []	225564	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium sporogenes
NCBITaxon:1513	\N	\N	"" []	NCBITaxon:1513	"" []	71755	\N	\N	ncbi_taxonomy	0	EFO	Clostridium tetani	Clostridium tetani
NCBITaxon:2	NCBITaxon:1513	\N	"" []	NCBITaxon:1513	"" []	225565	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium tetani
NCBITaxon:1520	\N	\N	"" []	NCBITaxon:1520	"" []	71756	\N	\N	ncbi_taxonomy	0	EFO	Clostridium beijerinckii	Clostridium beijerinckii
NCBITaxon:2	NCBITaxon:1520	\N	"" []	NCBITaxon:1520	"" []	225566	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium beijerinckii
NCBITaxon:152331	\N	\N	"" []	NCBITaxon:152331	"" []	71758	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus parabuchneri	Lactobacillus parabuchneri
NCBITaxon:2	NCBITaxon:152331	\N	"" []	NCBITaxon:152331	"" []	225567	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus parabuchneri
NCBITaxon:152480	\N	\N	"" []	NCBITaxon:152480	"" []	71759	\N	\N	ncbi_taxonomy	0	EFO	Burkholderia ambifaria	Burkholderia ambifaria
NCBITaxon:2	NCBITaxon:152480	\N	"" []	NCBITaxon:152480	"" []	225568	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Burkholderia ambifaria
NCBITaxon:1534	\N	\N	"" []	NCBITaxon:1534	"" []	71760	\N	\N	ncbi_taxonomy	0	EFO	Clostridium kluyveri	Clostridium kluyveri
NCBITaxon:2	NCBITaxon:1534	\N	"" []	NCBITaxon:1534	"" []	225569	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium kluyveri
NCBITaxon:153609	\N	\N	"" []	NCBITaxon:153609	"" []	71761	\N	\N	ncbi_taxonomy	0	EFO	Moniliophthora perniciosa	Moniliophthora perniciosa
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:153609	"" []	195092	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Moniliophthora perniciosa
NCBITaxon:15368	\N	\N	"" []	NCBITaxon:15368	"" []	71762	\N	\N	ncbi_taxonomy	0	EFO	Brachypodium distachyon	Brachypodium distachyon
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:15368	"" []	195093	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Brachypodium distachyon
NCBITaxon:15371	\N	\N	"" []	NCBITaxon:15371	"" []	71763	\N	\N	ncbi_taxonomy	0	EFO	Bromus inermis	Bromus inermis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:15371	"" []	195094	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Bromus inermis
NCBITaxon:153939	\N	\N	"" []	NCBITaxon:153939	"" []	71764	\N	\N	ncbi_taxonomy	0	EFO	uncultured sulfate-reducing bacterium	uncultured sulfate-reducing bacterium
NCBITaxon:2	NCBITaxon:153939	\N	"" []	NCBITaxon:153939	"" []	225570	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	uncultured sulfate-reducing bacterium
NCBITaxon:1547544	\N	\N	"" []	NCBITaxon:1547544	"" []	71765	\N	\N	ncbi_taxonomy	0	EFO	Pithomyces chartarum	Pithomyces chartarum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:1547544	"" []	195095	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Pithomyces chartarum
NCBITaxon:155864	\N	\N	"" []	NCBITaxon:155864	"" []	71766	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli O157:H7 str. EDL933	Escherichia coli O157:H7 str. EDL933
NCBITaxon:2	NCBITaxon:155864	\N	"" []	NCBITaxon:155864	"" []	225571	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli O157:H7 str. EDL933
NCBITaxon:155892	\N	\N	"" []	NCBITaxon:155892	"" []	71767	\N	\N	ncbi_taxonomy	0	EFO	Caulobacter vibrioides	Caulobacter vibrioides
NCBITaxon:2	NCBITaxon:155892	\N	"" []	NCBITaxon:155892	"" []	225572	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Caulobacter vibrioides
NCBITaxon:155900	\N	\N	"" []	NCBITaxon:155900	"" []	71768	\N	\N	ncbi_taxonomy	0	EFO	uncultured organism	uncultured organism
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:155900	"" []	195096	\N	\N	ncbi_taxonomy	0	EFO	organism	uncultured organism
NCBITaxon:1561	\N	\N	"" []	NCBITaxon:1561	"" []	71769	\N	\N	ncbi_taxonomy	0	EFO	Clostridium baratii	Clostridium baratii
NCBITaxon:2	NCBITaxon:1561	\N	"" []	NCBITaxon:1561	"" []	225573	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium baratii
NCBITaxon:156230	\N	\N	"" []	NCBITaxon:156230	"" []	71770	\N	\N	ncbi_taxonomy	0	EFO	Karenia brevis	Karenia brevis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:156230	"" []	195097	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Karenia brevis
NCBITaxon:156532	\N	\N	"" []	NCBITaxon:156532	"" []	71771	\N	\N	ncbi_taxonomy	0	EFO	Lilium hybrid division I	Lilium hybrid division I
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:156532	"" []	195098	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Lilium hybrid division I
NCBITaxon:1578	\N	\N	"" []	NCBITaxon:1578	"" []	71772	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus	Lactobacillus
NCBITaxon:2	NCBITaxon:1578	\N	"" []	NCBITaxon:1578	"" []	225574	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus
NCBITaxon:1579	\N	\N	"" []	NCBITaxon:1579	"" []	71773	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus acidophilus	Lactobacillus acidophilus
NCBITaxon:2	NCBITaxon:1579	\N	"" []	NCBITaxon:1579	"" []	225575	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus acidophilus
NCBITaxon:158	\N	\N	"" []	NCBITaxon:158	"" []	71774	\N	\N	ncbi_taxonomy	0	EFO	Treponema denticola	Treponema denticola
NCBITaxon:2	NCBITaxon:158	\N	"" []	NCBITaxon:158	"" []	225576	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Treponema denticola
NCBITaxon:1580	\N	\N	"" []	NCBITaxon:1580	"" []	71775	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus brevis	Lactobacillus brevis
NCBITaxon:2	NCBITaxon:1580	\N	"" []	NCBITaxon:1580	"" []	225577	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus brevis
NCBITaxon:1581	\N	\N	"" []	NCBITaxon:1581	"" []	71776	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus buchneri	Lactobacillus buchneri
NCBITaxon:2	NCBITaxon:1581	\N	"" []	NCBITaxon:1581	"" []	225578	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus buchneri
NCBITaxon:15819	\N	\N	"" []	NCBITaxon:15819	"" []	71777	\N	\N	ncbi_taxonomy	0	EFO	Saccharum sp.	Saccharum sp.
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:15819	"" []	195099	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Saccharum sp.
NCBITaxon:1582	\N	\N	"" []	NCBITaxon:1582	"" []	71778	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus casei	Lactobacillus casei
NCBITaxon:2	NCBITaxon:1582	\N	"" []	NCBITaxon:1582	"" []	225579	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus casei
NCBITaxon:1583	\N	\N	"" []	NCBITaxon:1583	"" []	71779	\N	\N	ncbi_taxonomy	0	EFO	Weissella confusa	Weissella confusa
NCBITaxon:2	NCBITaxon:1583	\N	"" []	NCBITaxon:1583	"" []	225580	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Weissella confusa
NCBITaxon:1584	\N	\N	"" []	NCBITaxon:1584	"" []	71780	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus delbrueckii	Lactobacillus delbrueckii
NCBITaxon:2	NCBITaxon:1584	\N	"" []	NCBITaxon:1584	"" []	225581	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus delbrueckii
NCBITaxon:158441	\N	\N	"" []	NCBITaxon:158441	"" []	71781	\N	\N	ncbi_taxonomy	0	EFO	Folsomia candida	Folsomia candida
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:158441	"" []	195100	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Folsomia candida
NCBITaxon:1585	\N	\N	"" []	NCBITaxon:1585	"" []	71782	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus delbrueckii subsp. bulgaricus	Lactobacillus delbrueckii subsp. bulgaricus
NCBITaxon:2	NCBITaxon:1585	\N	"" []	NCBITaxon:1585	"" []	225582	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus delbrueckii subsp. bulgaricus
NCBITaxon:158543	\N	\N	"" []	NCBITaxon:158543	"" []	71783	\N	\N	ncbi_taxonomy	0	EFO	Aristolochia fimbriata	Aristolochia fimbriata
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:158543	"" []	195101	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Aristolochia fimbriata
NCBITaxon:1587	\N	\N	"" []	NCBITaxon:1587	"" []	71784	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus helveticus	Lactobacillus helveticus
NCBITaxon:2	NCBITaxon:1587	\N	"" []	NCBITaxon:1587	"" []	225583	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus helveticus
NCBITaxon:1588	\N	\N	"" []	NCBITaxon:1588	"" []	71785	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus hilgardii	Lactobacillus hilgardii
NCBITaxon:2	NCBITaxon:1588	\N	"" []	NCBITaxon:1588	"" []	225584	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus hilgardii
NCBITaxon:158878	\N	\N	"" []	NCBITaxon:158878	"" []	71786	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus aureus subsp. aureus Mu50	Staphylococcus aureus subsp. aureus Mu50
NCBITaxon:2	NCBITaxon:158878	\N	"" []	NCBITaxon:158878	"" []	225585	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus aureus subsp. aureus Mu50
NCBITaxon:158879	\N	\N	"" []	NCBITaxon:158879	"" []	71787	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus aureus subsp. aureus N315	Staphylococcus aureus subsp. aureus N315
NCBITaxon:2	NCBITaxon:158879	\N	"" []	NCBITaxon:158879	"" []	225586	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus aureus subsp. aureus N315
NCBITaxon:158899	\N	\N	"" []	NCBITaxon:158899	"" []	71788	\N	\N	ncbi_taxonomy	0	EFO	Collimonas fungivorans	Collimonas fungivorans
NCBITaxon:2	NCBITaxon:158899	\N	"" []	NCBITaxon:158899	"" []	225587	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Collimonas fungivorans
NCBITaxon:1589	\N	\N	"" []	NCBITaxon:1589	"" []	71789	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus pentosus	Lactobacillus pentosus
NCBITaxon:2	NCBITaxon:1589	\N	"" []	NCBITaxon:1589	"" []	225588	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus pentosus
NCBITaxon:1590	\N	\N	"" []	NCBITaxon:1590	"" []	71790	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus plantarum	Lactobacillus plantarum
NCBITaxon:2	NCBITaxon:1590	\N	"" []	NCBITaxon:1590	"" []	225589	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus plantarum
NCBITaxon:1596	\N	\N	"" []	NCBITaxon:1596	"" []	71791	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus gasseri	Lactobacillus gasseri
NCBITaxon:2	NCBITaxon:1596	\N	"" []	NCBITaxon:1596	"" []	225590	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus gasseri
NCBITaxon:1597	\N	\N	"" []	NCBITaxon:1597	"" []	71792	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus paracasei	Lactobacillus paracasei
NCBITaxon:2	NCBITaxon:1597	\N	"" []	NCBITaxon:1597	"" []	225591	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus paracasei
NCBITaxon:1598	\N	\N	"" []	NCBITaxon:1598	"" []	71793	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus reuteri	Lactobacillus reuteri
NCBITaxon:2	NCBITaxon:1598	\N	"" []	NCBITaxon:1598	"" []	225592	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus reuteri
NCBITaxon:1599	\N	\N	"" []	NCBITaxon:1599	"" []	71794	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus sakei	Lactobacillus sakei
NCBITaxon:2	NCBITaxon:1599	\N	"" []	NCBITaxon:1599	"" []	225593	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus sakei
NCBITaxon:160	\N	\N	"" []	NCBITaxon:160	"" []	71795	\N	\N	ncbi_taxonomy	0	EFO	Treponema pallidum	Treponema pallidum
NCBITaxon:2	NCBITaxon:160	\N	"" []	NCBITaxon:160	"" []	225594	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Treponema pallidum
NCBITaxon:1602	\N	\N	"" []	NCBITaxon:1602	"" []	71796	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus alimentarius	Lactobacillus alimentarius
NCBITaxon:2	NCBITaxon:1602	\N	"" []	NCBITaxon:1602	"" []	225595	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus alimentarius
NCBITaxon:1604	\N	\N	"" []	NCBITaxon:1604	"" []	71797	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus amylovorus	Lactobacillus amylovorus
NCBITaxon:2	NCBITaxon:1604	\N	"" []	NCBITaxon:1604	"" []	225596	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus amylovorus
NCBITaxon:160488	\N	\N	"" []	NCBITaxon:160488	"" []	71798	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas putida KT2440	Pseudomonas putida KT2440
NCBITaxon:2	NCBITaxon:160488	\N	"" []	NCBITaxon:160488	"" []	225597	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudomonas putida KT2440
NCBITaxon:160492	\N	\N	"" []	NCBITaxon:160492	"" []	71799	\N	\N	ncbi_taxonomy	0	EFO	Xylella fastidiosa 9a5c	Xylella fastidiosa 9a5c
NCBITaxon:2	NCBITaxon:160492	\N	"" []	NCBITaxon:160492	"" []	225598	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Xylella fastidiosa 9a5c
NCBITaxon:160699	\N	\N	"" []	NCBITaxon:160699	"" []	71800	\N	\N	ncbi_taxonomy	0	EFO	Agrobacterium larrymoorei	Agrobacterium larrymoorei
NCBITaxon:2	NCBITaxon:160699	\N	"" []	NCBITaxon:160699	"" []	225599	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Agrobacterium larrymoorei
NCBITaxon:1612	\N	\N	"" []	NCBITaxon:1612	"" []	71801	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus farciminis	Lactobacillus farciminis
NCBITaxon:2	NCBITaxon:1612	\N	"" []	NCBITaxon:1612	"" []	225600	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus farciminis
NCBITaxon:1613	\N	\N	"" []	NCBITaxon:1613	"" []	71802	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus fermentum	Lactobacillus fermentum
NCBITaxon:2	NCBITaxon:1613	\N	"" []	NCBITaxon:1613	"" []	225601	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus fermentum
NCBITaxon:1614	\N	\N	"" []	NCBITaxon:1614	"" []	71803	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus fructivorans	Lactobacillus fructivorans
NCBITaxon:2	NCBITaxon:1614	\N	"" []	NCBITaxon:1614	"" []	225602	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus fructivorans
NCBITaxon:1624	\N	\N	"" []	NCBITaxon:1624	"" []	71804	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus salivarius	Lactobacillus salivarius
NCBITaxon:2	NCBITaxon:1624	\N	"" []	NCBITaxon:1624	"" []	225603	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus salivarius
NCBITaxon:162425	\N	\N	"" []	NCBITaxon:162425	"" []	71805	\N	\N	ncbi_taxonomy	0	EFO	Emericella nidulans	Emericella nidulans
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:162425	"" []	195102	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Emericella nidulans
NCBITaxon:1625	\N	\N	"" []	NCBITaxon:1625	"" []	71806	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus sanfranciscensis	Lactobacillus sanfranciscensis
NCBITaxon:2	NCBITaxon:1625	\N	"" []	NCBITaxon:1625	"" []	225604	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus sanfranciscensis
NCBITaxon:1639	\N	\N	"" []	NCBITaxon:1639	"" []	71807	\N	\N	ncbi_taxonomy	0	EFO	Listeria monocytogenes	Listeria monocytogenes
NCBITaxon:2	NCBITaxon:1639	\N	"" []	NCBITaxon:1639	"" []	225605	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Listeria monocytogenes
NCBITaxon:164110	\N	\N	"" []	NCBITaxon:164110	"" []	71808	\N	\N	ncbi_taxonomy	0	EFO	Nicotiana langsdorffii x Nicotiana sanderae	Nicotiana langsdorffii x Nicotiana sanderae
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:164110	"" []	195103	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Nicotiana langsdorffii x Nicotiana sanderae
NCBITaxon:1642	\N	\N	"" []	NCBITaxon:1642	"" []	71809	\N	\N	ncbi_taxonomy	0	EFO	Listeria innocua	Listeria innocua
NCBITaxon:2	NCBITaxon:1642	\N	"" []	NCBITaxon:1642	"" []	225606	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Listeria innocua
NCBITaxon:165597	\N	\N	"" []	NCBITaxon:165597	"" []	71810	\N	\N	ncbi_taxonomy	0	EFO	Crocosphaera watsonii WH 8501	Crocosphaera watsonii WH 8501
NCBITaxon:2	NCBITaxon:165597	\N	"" []	NCBITaxon:165597	"" []	225607	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Crocosphaera watsonii WH 8501
NCBITaxon:166361	\N	\N	"" []	NCBITaxon:166361	"" []	71811	\N	\N	ncbi_taxonomy	0	EFO	Onthophagus taurus	Onthophagus taurus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:166361	"" []	195104	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Onthophagus taurus
NCBITaxon:167481	\N	\N	"" []	NCBITaxon:167481	"" []	71812	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus mindensis	Lactobacillus mindensis
NCBITaxon:2	NCBITaxon:167481	\N	"" []	NCBITaxon:167481	"" []	225608	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus mindensis
NCBITaxon:167542	\N	\N	"" []	NCBITaxon:167542	"" []	71813	\N	\N	ncbi_taxonomy	0	EFO	Prochlorococcus marinus str. MIT 9515	Prochlorococcus marinus str. MIT 9515
NCBITaxon:2	NCBITaxon:167542	\N	"" []	NCBITaxon:167542	"" []	225609	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Prochlorococcus marinus str. MIT 9515
NCBITaxon:1678	\N	\N	"" []	NCBITaxon:1678	"" []	71814	\N	\N	ncbi_taxonomy	0	EFO	Bifidobacterium	Bifidobacterium
NCBITaxon:2	NCBITaxon:1678	\N	"" []	NCBITaxon:1678	"" []	225610	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bifidobacterium
NCBITaxon:1681	\N	\N	"" []	NCBITaxon:1681	"" []	71815	\N	\N	ncbi_taxonomy	0	EFO	Bifidobacterium bifidum	Bifidobacterium bifidum
NCBITaxon:2	NCBITaxon:1681	\N	"" []	NCBITaxon:1681	"" []	225611	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bifidobacterium bifidum
NCBITaxon:1685	\N	\N	"" []	NCBITaxon:1685	"" []	71817	\N	\N	ncbi_taxonomy	0	EFO	Bifidobacterium breve	Bifidobacterium breve
NCBITaxon:2	NCBITaxon:1685	\N	"" []	NCBITaxon:1685	"" []	225612	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bifidobacterium breve
NCBITaxon:169388	\N	\N	"" []	NCBITaxon:169388	"" []	71818	\N	\N	ncbi_taxonomy	0	EFO	Fusarium solani	Fusarium solani
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:169388	"" []	195105	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Fusarium solani
NCBITaxon:169963	\N	\N	"" []	NCBITaxon:169963	"" []	71819	\N	\N	ncbi_taxonomy	0	EFO	Listeria monocytogenes EGD-e	Listeria monocytogenes EGD-e
NCBITaxon:2	NCBITaxon:169963	\N	"" []	NCBITaxon:169963	"" []	225613	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Listeria monocytogenes EGD-e
NCBITaxon:170187	\N	\N	"" []	NCBITaxon:170187	"" []	71820	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus pneumoniae TIGR4	Streptococcus pneumoniae TIGR4
NCBITaxon:2	NCBITaxon:170187	\N	"" []	NCBITaxon:170187	"" []	225614	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus pneumoniae TIGR4
NCBITaxon:1703	\N	\N	"" []	NCBITaxon:1703	"" []	71821	\N	\N	ncbi_taxonomy	0	EFO	Brevibacterium linens	Brevibacterium linens
NCBITaxon:2	NCBITaxon:1703	\N	"" []	NCBITaxon:1703	"" []	225615	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Brevibacterium linens
NCBITaxon:171101	\N	\N	"" []	NCBITaxon:171101	"" []	71822	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus pneumoniae R6	Streptococcus pneumoniae R6
NCBITaxon:2	NCBITaxon:171101	\N	"" []	NCBITaxon:171101	"" []	225616	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus pneumoniae R6
NCBITaxon:1717	\N	\N	"" []	NCBITaxon:1717	"" []	71823	\N	\N	ncbi_taxonomy	0	EFO	Corynebacterium diphtheriae	Corynebacterium diphtheriae
NCBITaxon:2	NCBITaxon:1717	\N	"" []	NCBITaxon:1717	"" []	225617	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Corynebacterium diphtheriae
NCBITaxon:1718	\N	\N	"" []	NCBITaxon:1718	"" []	71824	\N	\N	ncbi_taxonomy	0	EFO	Corynebacterium glutamicum	Corynebacterium glutamicum
NCBITaxon:2	NCBITaxon:1718	\N	"" []	NCBITaxon:1718	"" []	225618	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Corynebacterium glutamicum
NCBITaxon:171953	\N	\N	"" []	NCBITaxon:171953	"" []	71825	\N	\N	ncbi_taxonomy	0	EFO	uncultured Acidobacteria bacterium	uncultured Acidobacteria bacterium
NCBITaxon:2	NCBITaxon:171953	\N	"" []	NCBITaxon:171953	"" []	225619	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	uncultured Acidobacteria bacterium
NCBITaxon:171960	\N	\N	"" []	NCBITaxon:171960	"" []	71826	\N	\N	ncbi_taxonomy	0	EFO	Vitis sp. cv. 'Norton'	Vitis sp. cv. 'Norton'
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:171960	"" []	195106	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Vitis sp. cv. 'Norton'
NCBITaxon:172680	\N	\N	"" []	NCBITaxon:172680	"" []	71827	\N	\N	ncbi_taxonomy	0	EFO	Chlamydotis undulata	Chlamydotis undulata
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:172680	"" []	195107	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Chlamydotis undulata
NCBITaxon:172790	\N	\N	"" []	NCBITaxon:172790	"" []	71828	\N	\N	ncbi_taxonomy	0	EFO	Solanum phureja	Solanum phureja
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:172790	"" []	195108	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Solanum phureja
NCBITaxon:173	\N	\N	"" []	NCBITaxon:173	"" []	71829	\N	\N	ncbi_taxonomy	0	EFO	Leptospira interrogans	Leptospira interrogans
NCBITaxon:2	NCBITaxon:173	\N	"" []	NCBITaxon:173	"" []	225620	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Leptospira interrogans
NCBITaxon:174621	\N	\N	"" []	NCBITaxon:174621	"" []	71830	\N	\N	ncbi_taxonomy	0	EFO	Wyeomyia smithii	Wyeomyia smithii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:174621	"" []	195109	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Wyeomyia smithii
NCBITaxon:174633	\N	\N	"" []	NCBITaxon:174633	"" []	71831	\N	\N	ncbi_taxonomy	0	EFO	Candidatus Kuenenia stuttgartiensis	Candidatus Kuenenia stuttgartiensis
NCBITaxon:2	NCBITaxon:174633	\N	"" []	NCBITaxon:174633	"" []	225621	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Candidatus Kuenenia stuttgartiensis
NCBITaxon:1747	\N	\N	"" []	NCBITaxon:1747	"" []	71832	\N	\N	ncbi_taxonomy	0	EFO	Propionibacterium acnes	Propionibacterium acnes
NCBITaxon:2	NCBITaxon:1747	\N	"" []	NCBITaxon:1747	"" []	225622	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Propionibacterium acnes
NCBITaxon:1752	\N	\N	"" []	NCBITaxon:1752	"" []	71833	\N	\N	ncbi_taxonomy	0	EFO	Propionibacterium freudenreichii subsp. shermanii	Propionibacterium freudenreichii subsp. shermanii
NCBITaxon:2	NCBITaxon:1752	\N	"" []	NCBITaxon:1752	"" []	225623	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Propionibacterium freudenreichii subsp. shermanii
NCBITaxon:176299	\N	\N	"" []	NCBITaxon:176299	"" []	71834	\N	\N	ncbi_taxonomy	0	EFO	Agrobacterium tumefaciens str. C58	Agrobacterium tumefaciens str. C58
NCBITaxon:2	NCBITaxon:176299	\N	"" []	NCBITaxon:176299	"" []	225624	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Agrobacterium tumefaciens str. C58
NCBITaxon:1764	\N	\N	"" []	NCBITaxon:1764	"" []	71835	\N	\N	ncbi_taxonomy	0	EFO	Mycobacterium avium	Mycobacterium avium
NCBITaxon:2	NCBITaxon:1764	\N	"" []	NCBITaxon:1764	"" []	225625	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycobacterium avium
NCBITaxon:1765	\N	\N	"" []	NCBITaxon:1765	"" []	71836	\N	\N	ncbi_taxonomy	0	EFO	Mycobacterium bovis	Mycobacterium bovis
NCBITaxon:2	NCBITaxon:1765	\N	"" []	NCBITaxon:1765	"" []	225626	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycobacterium bovis
NCBITaxon:1769	\N	\N	"" []	NCBITaxon:1769	"" []	71837	\N	\N	ncbi_taxonomy	0	EFO	Mycobacterium leprae	Mycobacterium leprae
NCBITaxon:2	NCBITaxon:1769	\N	"" []	NCBITaxon:1769	"" []	225627	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycobacterium leprae
NCBITaxon:1770	\N	\N	"" []	NCBITaxon:1770	"" []	71838	\N	\N	ncbi_taxonomy	0	EFO	Mycobacterium avium subsp. paratuberculosis	Mycobacterium avium subsp. paratuberculosis
NCBITaxon:2	NCBITaxon:1770	\N	"" []	NCBITaxon:1770	"" []	225628	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycobacterium avium subsp. paratuberculosis
NCBITaxon:1772	\N	\N	"" []	NCBITaxon:1772	"" []	71839	\N	\N	ncbi_taxonomy	0	EFO	Mycobacterium smegmatis	Mycobacterium smegmatis
NCBITaxon:2	NCBITaxon:1772	\N	"" []	NCBITaxon:1772	"" []	225629	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycobacterium smegmatis
NCBITaxon:1773	\N	\N	"" []	NCBITaxon:1773	"" []	71840	\N	\N	ncbi_taxonomy	0	EFO	Mycobacterium tuberculosis	Mycobacterium tuberculosis
NCBITaxon:2	NCBITaxon:1773	\N	"" []	NCBITaxon:1773	"" []	225630	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycobacterium tuberculosis
NCBITaxon:177416	\N	\N	"" []	NCBITaxon:177416	"" []	71841	\N	\N	ncbi_taxonomy	0	EFO	Francisella tularensis subsp. tularensis SCHU S4	Francisella tularensis subsp. tularensis SCHU S4
NCBITaxon:2	NCBITaxon:177416	\N	"" []	NCBITaxon:177416	"" []	225631	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Francisella tularensis subsp. tularensis SCHU S4
NCBITaxon:178876	\N	\N	"" []	NCBITaxon:178876	"" []	71842	\N	\N	ncbi_taxonomy	0	EFO	Cryptococcus neoformans var. grubii	Cryptococcus neoformans var. grubii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:178876	"" []	195110	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cryptococcus neoformans var. grubii
NCBITaxon:18101	\N	\N	"" []	NCBITaxon:18101	"" []	71843	\N	\N	ncbi_taxonomy	0	EFO	Gerbera hybrid cultivar	Gerbera hybrid cultivar
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:18101	"" []	195111	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Gerbera hybrid cultivar
NCBITaxon:181288	\N	\N	"" []	NCBITaxon:181288	"" []	71844	\N	\N	ncbi_taxonomy	0	EFO	Lotus uliginosus	Lotus uliginosus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:181288	"" []	195112	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Lotus uliginosus
NCBITaxon:182096	\N	\N	"" []	NCBITaxon:182096	"" []	71845	\N	\N	ncbi_taxonomy	0	EFO	Aspergillus chevalieri	Aspergillus chevalieri
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:182096	"" []	195113	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Aspergillus chevalieri
NCBITaxon:183190	\N	\N	"" []	NCBITaxon:183190	"" []	71846	\N	\N	ncbi_taxonomy	0	EFO	Xylella fastidiosa Temecula1	Xylella fastidiosa Temecula1
NCBITaxon:2	NCBITaxon:183190	\N	"" []	NCBITaxon:183190	"" []	225632	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Xylella fastidiosa Temecula1
NCBITaxon:1836	\N	\N	"" []	NCBITaxon:1836	"" []	71847	\N	\N	ncbi_taxonomy	0	EFO	Saccharopolyspora erythraea	Saccharopolyspora erythraea
NCBITaxon:2	NCBITaxon:1836	\N	"" []	NCBITaxon:1836	"" []	225633	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Saccharopolyspora erythraea
NCBITaxon:183674	\N	\N	"" []	NCBITaxon:183674	"" []	71848	\N	\N	ncbi_taxonomy	0	EFO	Miscanthus x giganteus	Miscanthus x giganteus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:183674	"" []	195114	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Miscanthus x giganteus
NCBITaxon:183925	\N	\N	"" []	NCBITaxon:183925	"" []	71849	\N	\N	ncbi_taxonomy	0	EFO	Methanobacteria	Methanobacteria
NCBITaxon:2157	NCBITaxon:183925	\N	"" []	NCBITaxon:183925	"" []	225634	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Methanobacteria
NCBITaxon:185431	\N	\N	"" []	NCBITaxon:185431	"" []	71850	\N	\N	ncbi_taxonomy	0	EFO	Trypanosoma brucei TREU927	Trypanosoma brucei TREU927
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:185431	"" []	195115	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Trypanosoma brucei TREU927
NCBITaxon:186497	\N	\N	"" []	NCBITaxon:186497	"" []	71851	\N	\N	ncbi_taxonomy	0	EFO	Pyrococcus furiosus DSM 3638	Pyrococcus furiosus DSM 3638
NCBITaxon:2157	NCBITaxon:186497	\N	"" []	NCBITaxon:186497	"" []	225635	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Pyrococcus furiosus DSM 3638
NCBITaxon:186538	\N	\N	"" []	NCBITaxon:186538	"" []	71852	\N	\N	ncbi_taxonomy	0	EFO	Zaire ebolavirus	Zaire ebolavirus
NCBITaxon:10239	NCBITaxon:186538	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:186538	"" []	225636	\N	\N	ncbi_taxonomy	1	EFO	Virus	Zaire ebolavirus
NCBITaxon:186539	\N	\N	"" []	NCBITaxon:186539	"" []	71853	\N	\N	ncbi_taxonomy	0	EFO	Reston ebolavirus	Reston ebolavirus
NCBITaxon:10239	NCBITaxon:186539	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:186539	"" []	225637	\N	\N	ncbi_taxonomy	1	EFO	Virus	Reston ebolavirus
NCBITaxon:186540	\N	\N	"" []	NCBITaxon:186540	"" []	71854	\N	\N	ncbi_taxonomy	0	EFO	Sudan ebolavirus	Sudan ebolavirus
NCBITaxon:10239	NCBITaxon:186540	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:186540	"" []	225638	\N	\N	ncbi_taxonomy	1	EFO	Virus	Sudan ebolavirus
NCBITaxon:186801	\N	\N	"" []	NCBITaxon:186801	"" []	71855	\N	\N	ncbi_taxonomy	0	EFO	Clostridia	Clostridia
NCBITaxon:2	NCBITaxon:186801	\N	"" []	NCBITaxon:186801	"" []	225639	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridia
NCBITaxon:186842	\N	\N	"" []	NCBITaxon:186842	"" []	71856	\N	\N	ncbi_taxonomy	0	EFO	Mus musculus x Mus spretus	Mus musculus x Mus spretus
NCBITaxon:10090	NCBITaxon:186842	\N	"" []	NCBITaxon:186842	"" []	225640	\N	\N	ncbi_taxonomy	1	EFO	Mus musculus	Mus musculus x Mus spretus
NCBITaxon:187623	\N	\N	"" []	NCBITaxon:187623	"" []	71857	\N	\N	ncbi_taxonomy	0	EFO	Cryptopygus antarcticus	Cryptopygus antarcticus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:187623	"" []	195116	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cryptopygus antarcticus
NCBITaxon:188704	\N	\N	"" []	NCBITaxon:188704	"" []	71858	\N	\N	ncbi_taxonomy	0	EFO	Enteromyxum leei	Enteromyxum leei
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:188704	"" []	195117	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Enteromyxum leei
NCBITaxon:1890	\N	\N	"" []	NCBITaxon:1890	"" []	71859	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces antibioticus	Streptomyces antibioticus
NCBITaxon:2	NCBITaxon:1890	\N	"" []	NCBITaxon:1890	"" []	225641	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces antibioticus
NCBITaxon:1894	\N	\N	"" []	NCBITaxon:1894	"" []	71861	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces aureofaciens	Streptomyces aureofaciens
NCBITaxon:2	NCBITaxon:1894	\N	"" []	NCBITaxon:1894	"" []	225642	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces aureofaciens
NCBITaxon:189518	\N	\N	"" []	NCBITaxon:189518	"" []	71862	\N	\N	ncbi_taxonomy	0	EFO	Leptospira interrogans serovar Lai str. 56601	Leptospira interrogans serovar Lai str. 56601
NCBITaxon:2	NCBITaxon:189518	\N	"" []	NCBITaxon:189518	"" []	225643	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Leptospira interrogans serovar Lai str. 56601
NCBITaxon:1896	\N	\N	"" []	NCBITaxon:1896	"" []	71863	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces bikiniensis	Streptomyces bikiniensis
NCBITaxon:2	NCBITaxon:1896	\N	"" []	NCBITaxon:1896	"" []	225644	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces bikiniensis
NCBITaxon:1901	\N	\N	"" []	NCBITaxon:1901	"" []	71864	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces clavuligerus	Streptomyces clavuligerus
NCBITaxon:2	NCBITaxon:1901	\N	"" []	NCBITaxon:1901	"" []	225645	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces clavuligerus
NCBITaxon:1902	\N	\N	"" []	NCBITaxon:1902	"" []	71865	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces coelicolor	Streptomyces coelicolor
NCBITaxon:2	NCBITaxon:1902	\N	"" []	NCBITaxon:1902	"" []	225646	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces coelicolor
NCBITaxon:190486	\N	\N	"" []	NCBITaxon:190486	"" []	71866	\N	\N	ncbi_taxonomy	0	EFO	Xanthomonas axonopodis pv. citri str. 306	Xanthomonas axonopodis pv. citri str. 306
NCBITaxon:2	NCBITaxon:190486	\N	"" []	NCBITaxon:190486	"" []	225647	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Xanthomonas axonopodis pv. citri str. 306
NCBITaxon:1905	\N	\N	"" []	NCBITaxon:1905	"" []	71867	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces exfoliatus	Streptomyces exfoliatus
NCBITaxon:2	NCBITaxon:1905	\N	"" []	NCBITaxon:1905	"" []	225648	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces exfoliatus
NCBITaxon:1906	\N	\N	"" []	NCBITaxon:1906	"" []	71868	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces fradiae	Streptomyces fradiae
NCBITaxon:2	NCBITaxon:1906	\N	"" []	NCBITaxon:1906	"" []	225649	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces fradiae
NCBITaxon:190650	\N	\N	"" []	NCBITaxon:190650	"" []	71869	\N	\N	ncbi_taxonomy	0	EFO	Caulobacter crescentus CB15	Caulobacter crescentus CB15
NCBITaxon:2	NCBITaxon:190650	\N	"" []	NCBITaxon:190650	"" []	225650	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Caulobacter crescentus CB15
NCBITaxon:190802	\N	\N	"" []	NCBITaxon:190802	"" []	71870	\N	\N	ncbi_taxonomy	0	EFO	Cleome gynandra	Cleome gynandra
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:190802	"" []	195118	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Cleome gynandra
NCBITaxon:1911	\N	\N	"" []	NCBITaxon:1911	"" []	71871	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces griseus	Streptomyces griseus
NCBITaxon:2	NCBITaxon:1911	\N	"" []	NCBITaxon:1911	"" []	225651	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces griseus
NCBITaxon:191292	\N	\N	"" []	NCBITaxon:191292	"" []	71872	\N	\N	ncbi_taxonomy	0	EFO	Rhodococcus aetherivorans	Rhodococcus aetherivorans
NCBITaxon:2	NCBITaxon:191292	\N	"" []	NCBITaxon:191292	"" []	225652	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rhodococcus aetherivorans
NCBITaxon:1916	\N	\N	"" []	NCBITaxon:1916	"" []	71873	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces lividans	Streptomyces lividans
NCBITaxon:2	NCBITaxon:1916	\N	"" []	NCBITaxon:1916	"" []	225653	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces lividans
NCBITaxon:1919	\N	\N	"" []	NCBITaxon:1919	"" []	71874	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces microflavus	Streptomyces microflavus
NCBITaxon:2	NCBITaxon:1919	\N	"" []	NCBITaxon:1919	"" []	225654	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces microflavus
NCBITaxon:192222	\N	\N	"" []	NCBITaxon:192222	"" []	71875	\N	\N	ncbi_taxonomy	0	EFO	Campylobacter jejuni subsp. jejuni NCTC 11168	Campylobacter jejuni subsp. jejuni NCTC 11168
NCBITaxon:2	NCBITaxon:192222	\N	"" []	NCBITaxon:192222	"" []	225655	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Campylobacter jejuni subsp. jejuni NCTC 11168
NCBITaxon:192399	\N	\N	"" []	NCBITaxon:192399	"" []	71876	\N	\N	ncbi_taxonomy	0	EFO	Eucalyptus grandis x Eucalyptus urophylla	Eucalyptus grandis x Eucalyptus urophylla
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:192399	"" []	195119	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Eucalyptus grandis x Eucalyptus urophylla
NCBITaxon:192452	\N	\N	"" []	NCBITaxon:192452	"" []	71877	\N	\N	ncbi_taxonomy	0	EFO	Cocksfoot streak virus	Cocksfoot streak virus
NCBITaxon:10239	NCBITaxon:192452	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:192452	"" []	225656	\N	\N	ncbi_taxonomy	1	EFO	Virus	Cocksfoot streak virus
NCBITaxon:1927	\N	\N	"" []	NCBITaxon:1927	"" []	71878	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces rimosus	Streptomyces rimosus
NCBITaxon:2	NCBITaxon:1927	\N	"" []	NCBITaxon:1927	"" []	225657	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces rimosus
NCBITaxon:1928	\N	\N	"" []	NCBITaxon:1928	"" []	71879	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces rochei	Streptomyces rochei
NCBITaxon:2	NCBITaxon:1928	\N	"" []	NCBITaxon:1928	"" []	225658	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces rochei
NCBITaxon:192955	\N	\N	"" []	NCBITaxon:192955	"" []	71880	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Kentucky	Salmonella enterica subsp. enterica serovar Kentucky
NCBITaxon:2	NCBITaxon:192955	\N	"" []	NCBITaxon:192955	"" []	225659	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Kentucky
NCBITaxon:1930	\N	\N	"" []	NCBITaxon:1930	"" []	71881	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces scabiei	Streptomyces scabiei
NCBITaxon:2	NCBITaxon:1930	\N	"" []	NCBITaxon:1930	"" []	225660	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces scabiei
NCBITaxon:194	\N	\N	"" []	NCBITaxon:194	"" []	71882	\N	\N	ncbi_taxonomy	0	EFO	Campylobacter	Campylobacter
NCBITaxon:2	NCBITaxon:194	\N	"" []	NCBITaxon:194	"" []	225661	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Campylobacter
NCBITaxon:195	\N	\N	"" []	NCBITaxon:195	"" []	71883	\N	\N	ncbi_taxonomy	0	EFO	Campylobacter coli	Campylobacter coli
NCBITaxon:2	NCBITaxon:195	\N	"" []	NCBITaxon:195	"" []	225662	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Campylobacter coli
NCBITaxon:195102	\N	\N	"" []	NCBITaxon:195102	"" []	71884	\N	\N	ncbi_taxonomy	0	EFO	Clostridium perfringens str. 13	Clostridium perfringens str. 13
NCBITaxon:2	NCBITaxon:195102	\N	"" []	NCBITaxon:195102	"" []	225663	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium perfringens str. 13
NCBITaxon:195635	\N	\N	"" []	NCBITaxon:195635	"" []	71885	\N	\N	ncbi_taxonomy	0	EFO	Pleuronichthys verticalis	Pleuronichthys verticalis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:195635	"" []	195120	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pleuronichthys verticalis
NCBITaxon:1961	\N	\N	"" []	NCBITaxon:1961	"" []	71886	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces virginiae	Streptomyces virginiae
NCBITaxon:2	NCBITaxon:1961	\N	"" []	NCBITaxon:1961	"" []	225664	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces virginiae
NCBITaxon:196620	\N	\N	"" []	NCBITaxon:196620	"" []	71887	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus aureus subsp. aureus MW2	Staphylococcus aureus subsp. aureus MW2
NCBITaxon:2	NCBITaxon:196620	\N	"" []	NCBITaxon:196620	"" []	225665	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus aureus subsp. aureus MW2
NCBITaxon:196627	\N	\N	"" []	NCBITaxon:196627	"" []	71888	\N	\N	ncbi_taxonomy	0	EFO	Corynebacterium glutamicum ATCC 13032	Corynebacterium glutamicum ATCC 13032
NCBITaxon:2	NCBITaxon:196627	\N	"" []	NCBITaxon:196627	"" []	225666	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Corynebacterium glutamicum ATCC 13032
NCBITaxon:197	\N	\N	"" []	NCBITaxon:197	"" []	71889	\N	\N	ncbi_taxonomy	0	EFO	Campylobacter jejuni	Campylobacter jejuni
NCBITaxon:2	NCBITaxon:197	\N	"" []	NCBITaxon:197	"" []	225667	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Campylobacter jejuni
NCBITaxon:197221	\N	\N	"" []	NCBITaxon:197221	"" []	71890	\N	\N	ncbi_taxonomy	0	EFO	Thermosynechococcus elongatus BP-1	Thermosynechococcus elongatus BP-1
NCBITaxon:2	NCBITaxon:197221	\N	"" []	NCBITaxon:197221	"" []	225668	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Thermosynechococcus elongatus BP-1
NCBITaxon:198094	\N	\N	"" []	NCBITaxon:198094	"" []	71891	\N	\N	ncbi_taxonomy	0	EFO	Bacillus anthracis str. Ames	Bacillus anthracis str. Ames
NCBITaxon:2	NCBITaxon:198094	\N	"" []	NCBITaxon:198094	"" []	225669	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacillus anthracis str. Ames
NCBITaxon:198214	\N	\N	"" []	NCBITaxon:198214	"" []	71892	\N	\N	ncbi_taxonomy	0	EFO	Shigella flexneri 2a str. 301	Shigella flexneri 2a str. 301
NCBITaxon:2	NCBITaxon:198214	\N	"" []	NCBITaxon:198214	"" []	225670	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Shigella flexneri 2a str. 301
NCBITaxon:198431	\N	\N	"" []	NCBITaxon:198431	"" []	71893	\N	\N	ncbi_taxonomy	0	EFO	uncultured prokaryote	uncultured prokaryote
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:198431	"" []	195121	\N	\N	ncbi_taxonomy	0	EFO	organism	uncultured prokaryote
NCBITaxon:198504	\N	\N	"" []	NCBITaxon:198504	"" []	71894	\N	\N	ncbi_taxonomy	0	EFO	Spartina x townsendii	Spartina x townsendii
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:198504	"" []	195122	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Spartina x townsendii
NCBITaxon:199310	\N	\N	"" []	NCBITaxon:199310	"" []	71896	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli CFT073	Escherichia coli CFT073
NCBITaxon:2	NCBITaxon:199310	\N	"" []	NCBITaxon:199310	"" []	225671	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli CFT073
NCBITaxon:2	\N	\N	"" []	NCBITaxon:2	"" []	71897	\N	\N	ncbi_taxonomy	0	EFO	Bacteria	Bacteria
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:2	"" []	195123	\N	\N	ncbi_taxonomy	0	EFO	organism	Bacteria
NCBITaxon:2001	\N	\N	"" []	NCBITaxon:2001	"" []	71898	\N	\N	ncbi_taxonomy	0	EFO	Streptosporangium roseum	Streptosporangium roseum
NCBITaxon:2	NCBITaxon:2001	\N	"" []	NCBITaxon:2001	"" []	225672	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptosporangium roseum
NCBITaxon:202457	\N	\N	"" []	NCBITaxon:202457	"" []	71900	\N	\N	ncbi_taxonomy	0	EFO	Callicebus cupreus	Callicebus cupreus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:202457	"" []	195124	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Callicebus cupreus
NCBITaxon:202907	\N	\N	"" []	NCBITaxon:202907	"" []	71901	\N	\N	ncbi_taxonomy	0	EFO	Collimonas	Collimonas
NCBITaxon:2	NCBITaxon:202907	\N	"" []	NCBITaxon:202907	"" []	225673	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Collimonas
NCBITaxon:203119	\N	\N	"" []	NCBITaxon:203119	"" []	71902	\N	\N	ncbi_taxonomy	0	EFO	Clostridium thermocellum ATCC 27405	Clostridium thermocellum ATCC 27405
NCBITaxon:2	NCBITaxon:203119	\N	"" []	NCBITaxon:203119	"" []	225674	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium thermocellum ATCC 27405
NCBITaxon:203262	\N	\N	"" []	NCBITaxon:203262	"" []	71903	\N	\N	ncbi_taxonomy	0	EFO	Epinephelus tauvina	Epinephelus tauvina
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:203262	"" []	195125	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Epinephelus tauvina
NCBITaxon:203404	\N	\N	"" []	NCBITaxon:203404	"" []	71904	\N	\N	ncbi_taxonomy	0	EFO	Lactococcus lactis subsp. hordniae	Lactococcus lactis subsp. hordniae
NCBITaxon:2	NCBITaxon:203404	\N	"" []	NCBITaxon:203404	"" []	225675	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactococcus lactis subsp. hordniae
NCBITaxon:203907	\N	\N	"" []	NCBITaxon:203907	"" []	71905	\N	\N	ncbi_taxonomy	0	EFO	Candidatus Blochmannia floridanus	Candidatus Blochmannia floridanus
NCBITaxon:2	NCBITaxon:203907	\N	"" []	NCBITaxon:203907	"" []	225676	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Candidatus Blochmannia floridanus
NCBITaxon:203908	\N	\N	"" []	NCBITaxon:203908	"" []	71906	\N	\N	ncbi_taxonomy	0	EFO	Melampsora larici-populina	Melampsora larici-populina
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:203908	"" []	195126	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Melampsora larici-populina
NCBITaxon:204038	\N	\N	"" []	NCBITaxon:204038	"" []	71907	\N	\N	ncbi_taxonomy	0	EFO	Dickeya dadantii	Dickeya dadantii
NCBITaxon:2	NCBITaxon:204038	\N	"" []	NCBITaxon:204038	"" []	225677	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Dickeya dadantii
NCBITaxon:204773	\N	\N	"" []	NCBITaxon:204773	"" []	71908	\N	\N	ncbi_taxonomy	0	EFO	Herminiimonas arsenicoxydans	Herminiimonas arsenicoxydans
NCBITaxon:2	NCBITaxon:204773	\N	"" []	NCBITaxon:204773	"" []	225678	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Herminiimonas arsenicoxydans
NCBITaxon:205920	\N	\N	"" []	NCBITaxon:205920	"" []	71909	\N	\N	ncbi_taxonomy	0	EFO	Ehrlichia chaffeensis str. Arkansas	Ehrlichia chaffeensis str. Arkansas
NCBITaxon:2	NCBITaxon:205920	\N	"" []	NCBITaxon:205920	"" []	225679	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ehrlichia chaffeensis str. Arkansas
NCBITaxon:205922	\N	\N	"" []	NCBITaxon:205922	"" []	71910	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas fluorescens Pf0-1	Pseudomonas fluorescens Pf0-1
NCBITaxon:2	NCBITaxon:205922	\N	"" []	NCBITaxon:205922	"" []	225680	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudomonas fluorescens Pf0-1
NCBITaxon:207559	\N	\N	"" []	NCBITaxon:207559	"" []	71911	\N	\N	ncbi_taxonomy	0	EFO	Desulfovibrio alaskensis G20	Desulfovibrio alaskensis G20
NCBITaxon:2	NCBITaxon:207559	\N	"" []	NCBITaxon:207559	"" []	225681	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Desulfovibrio alaskensis G20
NCBITaxon:208963	\N	\N	"" []	NCBITaxon:208963	"" []	71912	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas aeruginosa UCBPP-PA14	Pseudomonas aeruginosa UCBPP-PA14
NCBITaxon:2	NCBITaxon:208963	\N	"" []	NCBITaxon:208963	"" []	225682	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudomonas aeruginosa UCBPP-PA14
NCBITaxon:208964	\N	\N	"" []	NCBITaxon:208964	"" []	71913	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas aeruginosa PAO1	Pseudomonas aeruginosa PAO1
NCBITaxon:2	NCBITaxon:208964	\N	"" []	NCBITaxon:208964	"" []	225683	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudomonas aeruginosa PAO1
NCBITaxon:208973	\N	\N	"" []	NCBITaxon:208973	"" []	71914	\N	\N	ncbi_taxonomy	0	EFO	Choristoneura fumiferana MNPV	Choristoneura fumiferana MNPV
NCBITaxon:10239	NCBITaxon:208973	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:208973	"" []	225684	\N	\N	ncbi_taxonomy	1	EFO	Virus	Choristoneura fumiferana MNPV
NCBITaxon:209261	\N	\N	"" []	NCBITaxon:209261	"" []	71915	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Typhi str. Ty2	Salmonella enterica subsp. enterica serovar Typhi str. Ty2
NCBITaxon:2	NCBITaxon:209261	\N	"" []	NCBITaxon:209261	"" []	225685	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Typhi str. Ty2
NCBITaxon:2096	\N	\N	"" []	NCBITaxon:2096	"" []	71916	\N	\N	ncbi_taxonomy	0	EFO	Mycoplasma gallisepticum	Mycoplasma gallisepticum
NCBITaxon:2	NCBITaxon:2096	\N	"" []	NCBITaxon:2096	"" []	225686	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycoplasma gallisepticum
NCBITaxon:2097	\N	\N	"" []	NCBITaxon:2097	"" []	71917	\N	\N	ncbi_taxonomy	0	EFO	Mycoplasma genitalium	Mycoplasma genitalium
NCBITaxon:2	NCBITaxon:2097	\N	"" []	NCBITaxon:2097	"" []	225687	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycoplasma genitalium
NCBITaxon:209841	\N	\N	"" []	NCBITaxon:209841	"" []	71918	\N	\N	ncbi_taxonomy	0	EFO	Actinobacillus pleuropneumoniae serovar 7	Actinobacillus pleuropneumoniae serovar 7
NCBITaxon:2	NCBITaxon:209841	\N	"" []	NCBITaxon:209841	"" []	225688	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Actinobacillus pleuropneumoniae serovar 7
NCBITaxon:2099	\N	\N	"" []	NCBITaxon:2099	"" []	71919	\N	\N	ncbi_taxonomy	0	EFO	Mycoplasma hyopneumoniae	Mycoplasma hyopneumoniae
NCBITaxon:2	NCBITaxon:2099	\N	"" []	NCBITaxon:2099	"" []	225689	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycoplasma hyopneumoniae
NCBITaxon:210	\N	\N	"" []	NCBITaxon:210	"" []	71920	\N	\N	ncbi_taxonomy	0	EFO	Helicobacter pylori	Helicobacter pylori
NCBITaxon:2	NCBITaxon:210	\N	"" []	NCBITaxon:210	"" []	225690	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Helicobacter pylori
NCBITaxon:210007	\N	\N	"" []	NCBITaxon:210007	"" []	71921	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus mutans UA159	Streptococcus mutans UA159
NCBITaxon:2	NCBITaxon:210007	\N	"" []	NCBITaxon:210007	"" []	225691	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus mutans UA159
NCBITaxon:211586	\N	\N	"" []	NCBITaxon:211586	"" []	71922	\N	\N	ncbi_taxonomy	0	EFO	Shewanella oneidensis MR-1	Shewanella oneidensis MR-1
NCBITaxon:2	NCBITaxon:211586	\N	"" []	NCBITaxon:211586	"" []	225692	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Shewanella oneidensis MR-1
NCBITaxon:212035	\N	\N	"" []	NCBITaxon:212035	"" []	71923	\N	\N	ncbi_taxonomy	0	EFO	Acanthamoeba polyphaga mimivirus	Acanthamoeba polyphaga mimivirus
NCBITaxon:10239	NCBITaxon:212035	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:212035	"" []	225693	\N	\N	ncbi_taxonomy	1	EFO	Virus	Acanthamoeba polyphaga mimivirus
NCBITaxon:212042	\N	\N	"" []	NCBITaxon:212042	"" []	71924	\N	\N	ncbi_taxonomy	0	EFO	Anaplasma phagocytophilum HZ	Anaplasma phagocytophilum HZ
NCBITaxon:2	NCBITaxon:212042	\N	"" []	NCBITaxon:212042	"" []	225694	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Anaplasma phagocytophilum HZ
NCBITaxon:214684	\N	\N	"" []	NCBITaxon:214684	"" []	71925	\N	\N	ncbi_taxonomy	0	EFO	Cryptococcus neoformans var. neoformans JEC21	Cryptococcus neoformans var. neoformans JEC21
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:214684	"" []	195127	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cryptococcus neoformans var. neoformans JEC21
NCBITaxon:2157	\N	\N	"" []	NCBITaxon:2157	"" []	71926	\N	\N	ncbi_taxonomy	0	EFO	Archaea	Archaea
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:2157	"" []	195128	\N	\N	ncbi_taxonomy	0	EFO	organism	Archaea
NCBITaxon:2160	\N	\N	"" []	NCBITaxon:2160	"" []	71927	\N	\N	ncbi_taxonomy	0	EFO	Methanobacterium	Methanobacterium
NCBITaxon:2157	NCBITaxon:2160	\N	"" []	NCBITaxon:2160	"" []	225695	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Methanobacterium
NCBITaxon:216193	\N	\N	"" []	NCBITaxon:216193	"" []	71928	\N	\N	ncbi_taxonomy	0	EFO	Sylvia communis	Sylvia communis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:216193	"" []	195129	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Sylvia communis
NCBITaxon:216389	\N	\N	"" []	NCBITaxon:216389	"" []	71929	\N	\N	ncbi_taxonomy	0	EFO	Dehalococcoides sp. BAV1	Dehalococcoides sp. BAV1
NCBITaxon:2	NCBITaxon:216389	\N	"" []	NCBITaxon:216389	"" []	225696	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Dehalococcoides sp. BAV1
NCBITaxon:216597	\N	\N	"" []	NCBITaxon:216597	"" []	71930	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Typhimurium str. SL1344	Salmonella enterica subsp. enterica serovar Typhimurium str. SL1344
NCBITaxon:2	NCBITaxon:216597	\N	"" []	NCBITaxon:216597	"" []	225697	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Typhimurium str. SL1344
NCBITaxon:216816	\N	\N	"" []	NCBITaxon:216816	"" []	71931	\N	\N	ncbi_taxonomy	0	EFO	Bifidobacterium longum	Bifidobacterium longum
NCBITaxon:2	NCBITaxon:216816	\N	"" []	NCBITaxon:216816	"" []	225698	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bifidobacterium longum
NCBITaxon:216895	\N	\N	"" []	NCBITaxon:216895	"" []	71932	\N	\N	ncbi_taxonomy	0	EFO	Vibrio vulnificus CMCP6	Vibrio vulnificus CMCP6
NCBITaxon:2	NCBITaxon:216895	\N	"" []	NCBITaxon:216895	"" []	225699	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Vibrio vulnificus CMCP6
NCBITaxon:2173	\N	\N	"" []	NCBITaxon:2173	"" []	71933	\N	\N	ncbi_taxonomy	0	EFO	Methanobrevibacter smithii	Methanobrevibacter smithii
NCBITaxon:2157	NCBITaxon:2173	\N	"" []	NCBITaxon:2173	"" []	225700	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Methanobrevibacter smithii
NCBITaxon:218196	\N	\N	"" []	NCBITaxon:218196	"" []	71934	\N	\N	ncbi_taxonomy	0	EFO	Moniezia benedeni	Moniezia benedeni
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:218196	"" []	195130	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Moniezia benedeni
NCBITaxon:2184	\N	\N	"" []	NCBITaxon:2184	"" []	71935	\N	\N	ncbi_taxonomy	0	EFO	Methanococcus	Methanococcus
NCBITaxon:2157	NCBITaxon:2184	\N	"" []	NCBITaxon:2184	"" []	225701	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Methanococcus
NCBITaxon:220341	\N	\N	"" []	NCBITaxon:220341	"" []	71936	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Typhi str. CT18	Salmonella enterica subsp. enterica serovar Typhi str. CT18
NCBITaxon:2	NCBITaxon:220341	\N	"" []	NCBITaxon:220341	"" []	225702	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Typhi str. CT18
NCBITaxon:220664	\N	\N	"" []	NCBITaxon:220664	"" []	71937	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas fluorescens Pf-5	Pseudomonas fluorescens Pf-5
NCBITaxon:2	NCBITaxon:220664	\N	"" []	NCBITaxon:220664	"" []	225703	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudomonas fluorescens Pf-5
NCBITaxon:220668	\N	\N	"" []	NCBITaxon:220668	"" []	71938	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus plantarum WCFS1	Lactobacillus plantarum WCFS1
NCBITaxon:2	NCBITaxon:220668	\N	"" []	NCBITaxon:220668	"" []	225704	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus plantarum WCFS1
NCBITaxon:2208	\N	\N	"" []	NCBITaxon:2208	"" []	71939	\N	\N	ncbi_taxonomy	0	EFO	Methanosarcina barkeri	Methanosarcina barkeri
NCBITaxon:2157	NCBITaxon:2208	\N	"" []	NCBITaxon:2208	"" []	225705	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Methanosarcina barkeri
NCBITaxon:2209	\N	\N	"" []	NCBITaxon:2209	"" []	71940	\N	\N	ncbi_taxonomy	0	EFO	Methanosarcina mazei	Methanosarcina mazei
NCBITaxon:2157	NCBITaxon:2209	\N	"" []	NCBITaxon:2209	"" []	225706	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Methanosarcina mazei
NCBITaxon:221654	\N	\N	"" []	NCBITaxon:221654	"" []	71941	\N	\N	ncbi_taxonomy	0	EFO	Palaemonetes pugio	Palaemonetes pugio
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:221654	"" []	195131	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Palaemonetes pugio
NCBITaxon:223283	\N	\N	"" []	NCBITaxon:223283	"" []	71942	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas syringae pv. tomato str. DC3000	Pseudomonas syringae pv. tomato str. DC3000
NCBITaxon:323	NCBITaxon:223283	\N	"" []	NCBITaxon:223283	"" []	225707	\N	\N	ncbi_taxonomy	1	EFO	Pseudomonas syringae pv. tomato {has_synonym_type="equivalent_name"}	Pseudomonas syringae pv. tomato str. DC3000
NCBITaxon:2	NCBITaxon:323	\N	"" []	NCBITaxon:223283	"" []	582192	\N	\N	ncbi_taxonomy	2	EFO	Bacteria	Pseudomonas syringae pv. tomato str. DC3000
NCBITaxon:223430	\N	\N	"" []	NCBITaxon:223430	"" []	71943	\N	\N	ncbi_taxonomy	0	EFO	Aquilegia formosa	Aquilegia formosa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:223430	"" []	195132	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Aquilegia formosa
NCBITaxon:223926	\N	\N	"" []	NCBITaxon:223926	"" []	71944	\N	\N	ncbi_taxonomy	0	EFO	Vibrio parahaemolyticus RIMD 2210633	Vibrio parahaemolyticus RIMD 2210633
NCBITaxon:2	NCBITaxon:223926	\N	"" []	NCBITaxon:223926	"" []	225708	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Vibrio parahaemolyticus RIMD 2210633
NCBITaxon:2242	\N	\N	"" []	NCBITaxon:2242	"" []	71945	\N	\N	ncbi_taxonomy	0	EFO	Halobacterium salinarum	Halobacterium salinarum
NCBITaxon:2157	NCBITaxon:2242	\N	"" []	NCBITaxon:2242	"" []	225709	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Halobacterium salinarum
NCBITaxon:224308	\N	\N	"" []	NCBITaxon:224308	"" []	71946	\N	\N	ncbi_taxonomy	0	EFO	Bacillus subtilis subsp. subtilis str. 168	Bacillus subtilis subsp. subtilis str. 168
NCBITaxon:2	NCBITaxon:224308	\N	"" []	NCBITaxon:224308	"" []	225710	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacillus subtilis subsp. subtilis str. 168
NCBITaxon:2246	\N	\N	"" []	NCBITaxon:2246	"" []	71947	\N	\N	ncbi_taxonomy	0	EFO	Haloferax volcanii	Haloferax volcanii
NCBITaxon:2157	NCBITaxon:2246	\N	"" []	NCBITaxon:2246	"" []	225711	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Haloferax volcanii
NCBITaxon:224729	\N	\N	"" []	NCBITaxon:224729	"" []	71948	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Java	Salmonella enterica subsp. enterica serovar Java
NCBITaxon:2	NCBITaxon:224729	\N	"" []	NCBITaxon:224729	"" []	225712	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Java
NCBITaxon:224911	\N	\N	"" []	NCBITaxon:224911	"" []	71949	\N	\N	ncbi_taxonomy	0	EFO	Bradyrhizobium japonicum USDA 110	Bradyrhizobium japonicum USDA 110
NCBITaxon:2	NCBITaxon:224911	\N	"" []	NCBITaxon:224911	"" []	225713	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bradyrhizobium japonicum USDA 110
NCBITaxon:224914	\N	\N	"" []	NCBITaxon:224914	"" []	71950	\N	\N	ncbi_taxonomy	0	EFO	Brucella melitensis bv. 1 str. 16M	Brucella melitensis bv. 1 str. 16M
NCBITaxon:2	NCBITaxon:224914	\N	"" []	NCBITaxon:224914	"" []	225714	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Brucella melitensis bv. 1 str. 16M
NCBITaxon:2261	\N	\N	"" []	NCBITaxon:2261	"" []	71951	\N	\N	ncbi_taxonomy	0	EFO	Pyrococcus furiosus	Pyrococcus furiosus
NCBITaxon:2157	NCBITaxon:2261	\N	"" []	NCBITaxon:2261	"" []	225715	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Pyrococcus furiosus
NCBITaxon:226125	\N	\N	"" []	NCBITaxon:226125	"" []	71952	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces paradoxus NRRL Y-17217	Saccharomyces paradoxus NRRL Y-17217
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:226125	"" []	195133	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces paradoxus NRRL Y-17217
NCBITaxon:226126	\N	\N	"" []	NCBITaxon:226126	"" []	71953	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces mikatae IFO 1815	Saccharomyces mikatae IFO 1815
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:226126	"" []	195134	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces mikatae IFO 1815
NCBITaxon:226127	\N	\N	"" []	NCBITaxon:226127	"" []	71954	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces bayanus MCYC 623	Saccharomyces bayanus MCYC 623
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:226127	"" []	195135	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces bayanus MCYC 623
NCBITaxon:226185	\N	\N	"" []	NCBITaxon:226185	"" []	71955	\N	\N	ncbi_taxonomy	0	EFO	Enterococcus faecalis V583	Enterococcus faecalis V583
NCBITaxon:2	NCBITaxon:226185	\N	"" []	NCBITaxon:226185	"" []	225716	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Enterococcus faecalis V583
NCBITaxon:226186	\N	\N	"" []	NCBITaxon:226186	"" []	71956	\N	\N	ncbi_taxonomy	0	EFO	Bacteroides thetaiotaomicron VPI-5482	Bacteroides thetaiotaomicron VPI-5482
NCBITaxon:2	NCBITaxon:226186	\N	"" []	NCBITaxon:226186	"" []	225717	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacteroides thetaiotaomicron VPI-5482
NCBITaxon:226302	\N	\N	"" []	NCBITaxon:226302	"" []	71957	\N	\N	ncbi_taxonomy	0	EFO	Lachancea kluyveri NRRL Y-12651	Lachancea kluyveri NRRL Y-12651
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:226302	"" []	195136	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Lachancea kluyveri NRRL Y-12651
NCBITaxon:226900	\N	\N	"" []	NCBITaxon:226900	"" []	71958	\N	\N	ncbi_taxonomy	0	EFO	Bacillus cereus ATCC 14579	Bacillus cereus ATCC 14579
NCBITaxon:2	NCBITaxon:226900	\N	"" []	NCBITaxon:226900	"" []	225718	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacillus cereus ATCC 14579
NCBITaxon:2271	\N	\N	"" []	NCBITaxon:2271	"" []	71959	\N	\N	ncbi_taxonomy	0	EFO	Thermoproteus tenax	Thermoproteus tenax
NCBITaxon:2157	NCBITaxon:2271	\N	"" []	NCBITaxon:2271	"" []	225719	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Thermoproteus tenax
NCBITaxon:227859	\N	\N	"" []	NCBITaxon:227859	"" []	71960	\N	\N	ncbi_taxonomy	0	EFO	SARS coronavirus	SARS coronavirus
NCBITaxon:10239	NCBITaxon:227859	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:227859	"" []	225720	\N	\N	ncbi_taxonomy	1	EFO	Virus	SARS coronavirus
NCBITaxon:227984	\N	\N	"" []	NCBITaxon:227984	"" []	71961	\N	\N	ncbi_taxonomy	0	EFO	SARS coronavirus Tor2	SARS coronavirus Tor2
NCBITaxon:10239	NCBITaxon:227984	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:227984	"" []	225721	\N	\N	ncbi_taxonomy	1	EFO	Virus	SARS coronavirus Tor2
NCBITaxon:228399	\N	\N	"" []	NCBITaxon:228399	"" []	71962	\N	\N	ncbi_taxonomy	0	EFO	Actinobacillus pleuropneumoniae serovar 1 str. 4074	Actinobacillus pleuropneumoniae serovar 1 str. 4074
NCBITaxon:2	NCBITaxon:228399	\N	"" []	NCBITaxon:228399	"" []	225722	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Actinobacillus pleuropneumoniae serovar 1 str. 4074
NCBITaxon:228410	\N	\N	"" []	NCBITaxon:228410	"" []	71963	\N	\N	ncbi_taxonomy	0	EFO	Nitrosomonas europaea ATCC 19718	Nitrosomonas europaea ATCC 19718
NCBITaxon:2	NCBITaxon:228410	\N	"" []	NCBITaxon:228410	"" []	225723	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Nitrosomonas europaea ATCC 19718
NCBITaxon:228457	\N	\N	"" []	NCBITaxon:228457	"" []	71964	\N	\N	ncbi_taxonomy	0	EFO	Laternula elliptica	Laternula elliptica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:228457	"" []	195137	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Laternula elliptica
NCBITaxon:2285	\N	\N	"" []	NCBITaxon:2285	"" []	71965	\N	\N	ncbi_taxonomy	0	EFO	Sulfolobus acidocaldarius	Sulfolobus acidocaldarius
NCBITaxon:2157	NCBITaxon:2285	\N	"" []	NCBITaxon:2285	"" []	225724	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Sulfolobus acidocaldarius
NCBITaxon:228578	\N	\N	"" []	NCBITaxon:228578	"" []	71966	\N	\N	ncbi_taxonomy	0	EFO	Youcai mosaic virus	Youcai mosaic virus
NCBITaxon:10239	NCBITaxon:228578	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:228578	"" []	225725	\N	\N	ncbi_taxonomy	1	EFO	Virus	Youcai mosaic virus
NCBITaxon:2287	\N	\N	"" []	NCBITaxon:2287	"" []	71967	\N	\N	ncbi_taxonomy	0	EFO	Sulfolobus solfataricus	Sulfolobus solfataricus
NCBITaxon:2157	NCBITaxon:2287	\N	"" []	NCBITaxon:2287	"" []	225726	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Sulfolobus solfataricus
NCBITaxon:229990	\N	\N	"" []	NCBITaxon:229990	"" []	71968	\N	\N	ncbi_taxonomy	0	EFO	Locusta migratoria manilensis	Locusta migratoria manilensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:229990	"" []	195138	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Locusta migratoria manilensis
NCBITaxon:230603	\N	\N	"" []	NCBITaxon:230603	"" []	71969	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces uvarum	Saccharomyces uvarum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:230603	"" []	195139	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces uvarum
NCBITaxon:231010	\N	\N	"" []	NCBITaxon:231010	"" []	71970	\N	\N	ncbi_taxonomy	0	EFO	Arthroderma racemosum	Arthroderma racemosum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:231010	"" []	195140	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Arthroderma racemosum
NCBITaxon:231049	\N	\N	"" []	NCBITaxon:231049	"" []	71971	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus rossiae	Lactobacillus rossiae
NCBITaxon:2	NCBITaxon:231049	\N	"" []	NCBITaxon:231049	"" []	225727	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus rossiae
NCBITaxon:23211	\N	\N	"" []	NCBITaxon:23211	"" []	71972	\N	\N	ncbi_taxonomy	0	EFO	Pyrus communis	Pyrus communis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:23211	"" []	195141	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pyrus communis
NCBITaxon:233412	\N	\N	"" []	NCBITaxon:233412	"" []	71973	\N	\N	ncbi_taxonomy	0	EFO	Haemophilus ducreyi 35000HP	Haemophilus ducreyi 35000HP
NCBITaxon:2	NCBITaxon:233412	\N	"" []	NCBITaxon:233412	"" []	225728	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Haemophilus ducreyi 35000HP
NCBITaxon:2336	\N	\N	"" []	NCBITaxon:2336	"" []	71974	\N	\N	ncbi_taxonomy	0	EFO	Thermotoga maritima	Thermotoga maritima
NCBITaxon:2	NCBITaxon:2336	\N	"" []	NCBITaxon:2336	"" []	225729	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Thermotoga maritima
NCBITaxon:2337	\N	\N	"" []	NCBITaxon:2337	"" []	71975	\N	\N	ncbi_taxonomy	0	EFO	Thermotoga neapolitana	Thermotoga neapolitana
NCBITaxon:2	NCBITaxon:2337	\N	"" []	NCBITaxon:2337	"" []	225730	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Thermotoga neapolitana
NCBITaxon:233779	\N	\N	"" []	NCBITaxon:233779	"" []	71976	\N	\N	ncbi_taxonomy	0	EFO	Spea bombifrons	Spea bombifrons
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:233779	"" []	195142	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Spea bombifrons
NCBITaxon:235	\N	\N	"" []	NCBITaxon:235	"" []	71977	\N	\N	ncbi_taxonomy	0	EFO	Brucella abortus	Brucella abortus
NCBITaxon:2	NCBITaxon:235	\N	"" []	NCBITaxon:235	"" []	225731	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Brucella abortus
NCBITaxon:235443	\N	\N	"" []	NCBITaxon:235443	"" []	71978	\N	\N	ncbi_taxonomy	0	EFO	Cryptococcus neoformans var. grubii H99	Cryptococcus neoformans var. grubii H99
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:235443	"" []	195143	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cryptococcus neoformans var. grubii H99
NCBITaxon:2361	\N	\N	"" []	NCBITaxon:2361	"" []	71979	\N	\N	ncbi_taxonomy	0	EFO	Calyptogena magnifica symbiont	Calyptogena magnifica symbiont
NCBITaxon:2	NCBITaxon:2361	\N	"" []	NCBITaxon:2361	"" []	225732	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Calyptogena magnifica symbiont
NCBITaxon:2371	\N	\N	"" []	NCBITaxon:2371	"" []	71980	\N	\N	ncbi_taxonomy	0	EFO	Xylella fastidiosa	Xylella fastidiosa
NCBITaxon:2	NCBITaxon:2371	\N	"" []	NCBITaxon:2371	"" []	225733	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Xylella fastidiosa
NCBITaxon:237574	\N	\N	"" []	NCBITaxon:237574	"" []	71981	\N	\N	ncbi_taxonomy	0	EFO	Citrus sunki	Citrus sunki
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:237574	"" []	195144	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Citrus sunki
NCBITaxon:238245	\N	\N	"" []	NCBITaxon:238245	"" []	71982	\N	\N	ncbi_taxonomy	0	EFO	Stenocarpella maydis	Stenocarpella maydis
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:238245	"" []	195145	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Stenocarpella maydis
NCBITaxon:238854	\N	\N	"" []	NCBITaxon:238854	"" []	71983	\N	\N	ncbi_taxonomy	0	EFO	Synechococcus phage S-PM2	Synechococcus phage S-PM2
NCBITaxon:10239	NCBITaxon:238854	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:238854	"" []	225734	\N	\N	ncbi_taxonomy	1	EFO	Virus	Synechococcus phage S-PM2
NCBITaxon:239770	\N	\N	"" []	NCBITaxon:239770	"" []	71984	\N	\N	ncbi_taxonomy	0	EFO	Pyrus hybrid cultivar	Pyrus hybrid cultivar
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:239770	"" []	195146	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pyrus hybrid cultivar
NCBITaxon:240495	\N	\N	"" []	NCBITaxon:240495	"" []	71985	\N	\N	ncbi_taxonomy	0	EFO	Pseudonocardia dioxanivorans	Pseudonocardia dioxanivorans
NCBITaxon:2	NCBITaxon:240495	\N	"" []	NCBITaxon:240495	"" []	225735	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudonocardia dioxanivorans
NCBITaxon:242124	\N	\N	"" []	NCBITaxon:242124	"" []	71986	\N	\N	ncbi_taxonomy	0	EFO	Populus yunnanensis	Populus yunnanensis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:242124	"" []	195147	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus yunnanensis
NCBITaxon:242507	\N	\N	"" []	NCBITaxon:242507	"" []	71987	\N	\N	ncbi_taxonomy	0	EFO	Magnaporthe oryzae 70-15	Magnaporthe oryzae 70-15
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:242507	"" []	195148	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Magnaporthe oryzae 70-15
NCBITaxon:242619	\N	\N	"" []	NCBITaxon:242619	"" []	71988	\N	\N	ncbi_taxonomy	0	EFO	Porphyromonas gingivalis W83	Porphyromonas gingivalis W83
NCBITaxon:2	NCBITaxon:242619	\N	"" []	NCBITaxon:242619	"" []	225736	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Porphyromonas gingivalis W83
NCBITaxon:243159	\N	\N	"" []	NCBITaxon:243159	"" []	71989	\N	\N	ncbi_taxonomy	0	EFO	Acidithiobacillus ferrooxidans ATCC 23270	Acidithiobacillus ferrooxidans ATCC 23270
NCBITaxon:2	NCBITaxon:243159	\N	"" []	NCBITaxon:243159	"" []	225737	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Acidithiobacillus ferrooxidans ATCC 23270
NCBITaxon:243164	\N	\N	"" []	NCBITaxon:243164	"" []	71990	\N	\N	ncbi_taxonomy	0	EFO	Dehalococcoides ethenogenes 195	Dehalococcoides ethenogenes 195
NCBITaxon:2	NCBITaxon:243164	\N	"" []	NCBITaxon:243164	"" []	225738	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Dehalococcoides ethenogenes 195
NCBITaxon:243230	\N	\N	"" []	NCBITaxon:243230	"" []	71991	\N	\N	ncbi_taxonomy	0	EFO	Deinococcus radiodurans R1	Deinococcus radiodurans R1
NCBITaxon:2	NCBITaxon:243230	\N	"" []	NCBITaxon:243230	"" []	225739	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Deinococcus radiodurans R1
NCBITaxon:243231	\N	\N	"" []	NCBITaxon:243231	"" []	71992	\N	\N	ncbi_taxonomy	0	EFO	Geobacter sulfurreducens PCA	Geobacter sulfurreducens PCA
NCBITaxon:2	NCBITaxon:243231	\N	"" []	NCBITaxon:243231	"" []	225740	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Geobacter sulfurreducens PCA
NCBITaxon:243265	\N	\N	"" []	NCBITaxon:243265	"" []	71993	\N	\N	ncbi_taxonomy	0	EFO	Photorhabdus luminescens subsp. laumondii TTO1	Photorhabdus luminescens subsp. laumondii TTO1
NCBITaxon:2	NCBITaxon:243265	\N	"" []	NCBITaxon:243265	"" []	225741	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Photorhabdus luminescens subsp. laumondii TTO1
NCBITaxon:246196	\N	\N	"" []	NCBITaxon:246196	"" []	71994	\N	\N	ncbi_taxonomy	0	EFO	Mycobacterium smegmatis str. MC2 155	Mycobacterium smegmatis str. MC2 155
NCBITaxon:2	NCBITaxon:246196	\N	"" []	NCBITaxon:246196	"" []	225742	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycobacterium smegmatis str. MC2 155
NCBITaxon:246200	\N	\N	"" []	NCBITaxon:246200	"" []	71995	\N	\N	ncbi_taxonomy	0	EFO	Ruegeria pomeroyi DSS-3	Ruegeria pomeroyi DSS-3
NCBITaxon:2	NCBITaxon:246200	\N	"" []	NCBITaxon:246200	"" []	225743	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ruegeria pomeroyi DSS-3
NCBITaxon:252598	\N	\N	"" []	NCBITaxon:252598	"" []	71996	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces boulardii	Saccharomyces boulardii
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:252598	"" []	195149	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces boulardii
NCBITaxon:257758	\N	\N	"" []	NCBITaxon:257758	"" []	71997	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus pseudopneumoniae	Streptococcus pseudopneumoniae
NCBITaxon:2	NCBITaxon:257758	\N	"" []	NCBITaxon:257758	"" []	225744	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus pseudopneumoniae
NCBITaxon:258594	\N	\N	"" []	NCBITaxon:258594	"" []	71998	\N	\N	ncbi_taxonomy	0	EFO	Rhodopseudomonas palustris CGA009	Rhodopseudomonas palustris CGA009
NCBITaxon:2	NCBITaxon:258594	\N	"" []	NCBITaxon:258594	"" []	225745	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rhodopseudomonas palustris CGA009
NCBITaxon:259536	\N	\N	"" []	NCBITaxon:259536	"" []	71999	\N	\N	ncbi_taxonomy	0	EFO	Psychrobacter arcticus 273-4	Psychrobacter arcticus 273-4
NCBITaxon:2	NCBITaxon:259536	\N	"" []	NCBITaxon:259536	"" []	225746	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Psychrobacter arcticus 273-4
NCBITaxon:260799	\N	\N	"" []	NCBITaxon:260799	"" []	72000	\N	\N	ncbi_taxonomy	0	EFO	Bacillus anthracis str. Sterne	Bacillus anthracis str. Sterne
NCBITaxon:2	NCBITaxon:260799	\N	"" []	NCBITaxon:260799	"" []	225747	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacillus anthracis str. Sterne
NCBITaxon:262543	\N	\N	"" []	NCBITaxon:262543	"" []	72001	\N	\N	ncbi_taxonomy	0	EFO	Exiguobacterium sibiricum 255-15	Exiguobacterium sibiricum 255-15
NCBITaxon:2	NCBITaxon:262543	\N	"" []	NCBITaxon:262543	"" []	225748	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Exiguobacterium sibiricum 255-15
NCBITaxon:262728	\N	\N	"" []	NCBITaxon:262728	"" []	72002	\N	\N	ncbi_taxonomy	0	EFO	Haemophilus influenzae R2866	Haemophilus influenzae R2866
NCBITaxon:2	NCBITaxon:262728	\N	"" []	NCBITaxon:262728	"" []	225749	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Haemophilus influenzae R2866
NCBITaxon:263	\N	\N	"" []	NCBITaxon:263	"" []	72003	\N	\N	ncbi_taxonomy	0	EFO	Francisella tularensis	Francisella tularensis
NCBITaxon:2	NCBITaxon:263	\N	"" []	NCBITaxon:263	"" []	225750	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Francisella tularensis
NCBITaxon:264462	\N	\N	"" []	NCBITaxon:264462	"" []	72004	\N	\N	ncbi_taxonomy	0	EFO	Bdellovibrio bacteriovorus HD100	Bdellovibrio bacteriovorus HD100
NCBITaxon:2	NCBITaxon:264462	\N	"" []	NCBITaxon:264462	"" []	225751	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bdellovibrio bacteriovorus HD100
NCBITaxon:264653	\N	\N	"" []	NCBITaxon:264653	"" []	72005	\N	\N	ncbi_taxonomy	0	EFO	Synechococcus phage S-RSM2	Synechococcus phage S-RSM2
NCBITaxon:10239	NCBITaxon:264653	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:264653	"" []	225752	\N	\N	ncbi_taxonomy	1	EFO	Virus	Synechococcus phage S-RSM2
NCBITaxon:264956	\N	\N	"" []	NCBITaxon:264956	"" []	72006	\N	\N	ncbi_taxonomy	0	EFO	Lotus filicaulis	Lotus filicaulis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:264956	"" []	195150	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Lotus filicaulis
NCBITaxon:265606	\N	\N	"" []	NCBITaxon:265606	"" []	72007	\N	\N	ncbi_taxonomy	0	EFO	Rhodopirellula baltica	Rhodopirellula baltica
NCBITaxon:2	NCBITaxon:265606	\N	"" []	NCBITaxon:265606	"" []	225753	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rhodopirellula baltica
NCBITaxon:265669	\N	\N	"" []	NCBITaxon:265669	"" []	72008	\N	\N	ncbi_taxonomy	0	EFO	Listeria monocytogenes serotype 4b str. F2365	Listeria monocytogenes serotype 4b str. F2365
NCBITaxon:2	NCBITaxon:265669	\N	"" []	NCBITaxon:265669	"" []	225754	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Listeria monocytogenes serotype 4b str. F2365
NCBITaxon:266264	\N	\N	"" []	NCBITaxon:266264	"" []	72009	\N	\N	ncbi_taxonomy	0	EFO	Cupriavidus metallidurans CH34	Cupriavidus metallidurans CH34
NCBITaxon:2	NCBITaxon:266264	\N	"" []	NCBITaxon:266264	"" []	225755	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Cupriavidus metallidurans CH34
NCBITaxon:267377	\N	\N	"" []	NCBITaxon:267377	"" []	72010	\N	\N	ncbi_taxonomy	0	EFO	Methanococcus maripaludis S2	Methanococcus maripaludis S2
NCBITaxon:2157	NCBITaxon:267377	\N	"" []	NCBITaxon:267377	"" []	225756	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Methanococcus maripaludis S2
NCBITaxon:267608	\N	\N	"" []	NCBITaxon:267608	"" []	72011	\N	\N	ncbi_taxonomy	0	EFO	Ralstonia solanacearum GMI1000	Ralstonia solanacearum GMI1000
NCBITaxon:2	NCBITaxon:267608	\N	"" []	NCBITaxon:267608	"" []	225757	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ralstonia solanacearum GMI1000
NCBITaxon:2708	\N	\N	"" []	NCBITaxon:2708	"" []	72012	\N	\N	ncbi_taxonomy	0	EFO	Citrus limon	Citrus limon
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:2708	"" []	195151	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Citrus limon
NCBITaxon:2711	\N	\N	"" []	NCBITaxon:2711	"" []	72013	\N	\N	ncbi_taxonomy	0	EFO	Citrus sinensis	Citrus sinensis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:2711	"" []	195152	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Citrus sinensis
NCBITaxon:272556	\N	\N	"" []	NCBITaxon:272556	"" []	72014	\N	\N	ncbi_taxonomy	0	EFO	Aggregatibacter actinomycetemcomitans HK1651	Aggregatibacter actinomycetemcomitans HK1651
NCBITaxon:2	NCBITaxon:272556	\N	"" []	NCBITaxon:272556	"" []	225758	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Aggregatibacter actinomycetemcomitans HK1651
NCBITaxon:272559	\N	\N	"" []	NCBITaxon:272559	"" []	72015	\N	\N	ncbi_taxonomy	0	EFO	Bacteroides fragilis NCTC 9343	Bacteroides fragilis NCTC 9343
NCBITaxon:2	NCBITaxon:272559	\N	"" []	NCBITaxon:272559	"" []	225759	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacteroides fragilis NCTC 9343
NCBITaxon:272560	\N	\N	"" []	NCBITaxon:272560	"" []	72016	\N	\N	ncbi_taxonomy	0	EFO	Burkholderia pseudomallei K96243	Burkholderia pseudomallei K96243
NCBITaxon:2	NCBITaxon:272560	\N	"" []	NCBITaxon:272560	"" []	225760	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Burkholderia pseudomallei K96243
NCBITaxon:272562	\N	\N	"" []	NCBITaxon:272562	"" []	72017	\N	\N	ncbi_taxonomy	0	EFO	Clostridium acetobutylicum ATCC 824	Clostridium acetobutylicum ATCC 824
NCBITaxon:2	NCBITaxon:272562	\N	"" []	NCBITaxon:272562	"" []	225761	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium acetobutylicum ATCC 824
NCBITaxon:272563	\N	\N	"" []	NCBITaxon:272563	"" []	72018	\N	\N	ncbi_taxonomy	0	EFO	Clostridium difficile 630	Clostridium difficile 630
NCBITaxon:2	NCBITaxon:272563	\N	"" []	NCBITaxon:272563	"" []	225762	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium difficile 630
NCBITaxon:272623	\N	\N	"" []	NCBITaxon:272623	"" []	72019	\N	\N	ncbi_taxonomy	0	EFO	Lactococcus lactis subsp. lactis Il1403	Lactococcus lactis subsp. lactis Il1403
NCBITaxon:2	NCBITaxon:272623	\N	"" []	NCBITaxon:272623	"" []	225763	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactococcus lactis subsp. lactis Il1403
NCBITaxon:272624	\N	\N	"" []	NCBITaxon:272624	"" []	72020	\N	\N	ncbi_taxonomy	0	EFO	Legionella pneumophila subsp. pneumophila str. Philadelphia 1	Legionella pneumophila subsp. pneumophila str. Philadelphia 1
NCBITaxon:2	NCBITaxon:272624	\N	"" []	NCBITaxon:272624	"" []	225764	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Legionella pneumophila subsp. pneumophila str. Philadelphia 1
NCBITaxon:272630	\N	\N	"" []	NCBITaxon:272630	"" []	72021	\N	\N	ncbi_taxonomy	0	EFO	Methylobacterium extorquens AM1	Methylobacterium extorquens AM1
NCBITaxon:2	NCBITaxon:272630	\N	"" []	NCBITaxon:272630	"" []	225765	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Methylobacterium extorquens AM1
NCBITaxon:272843	\N	\N	"" []	NCBITaxon:272843	"" []	72022	\N	\N	ncbi_taxonomy	0	EFO	Pasteurella multocida subsp. multocida str. Pm70	Pasteurella multocida subsp. multocida str. Pm70
NCBITaxon:2	NCBITaxon:272843	\N	"" []	NCBITaxon:272843	"" []	225766	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pasteurella multocida subsp. multocida str. Pm70
NCBITaxon:27291	\N	\N	"" []	NCBITaxon:27291	"" []	72023	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces paradoxus	Saccharomyces paradoxus
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:27291	"" []	195153	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces paradoxus
NCBITaxon:27292	\N	\N	"" []	NCBITaxon:27292	"" []	72024	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces pastorianus	Saccharomyces pastorianus
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:27292	"" []	195154	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces pastorianus
NCBITaxon:272943	\N	\N	"" []	NCBITaxon:272943	"" []	72025	\N	\N	ncbi_taxonomy	0	EFO	Rhodobacter sphaeroides 2.4.1	Rhodobacter sphaeroides 2.4.1
NCBITaxon:2	NCBITaxon:272943	\N	"" []	NCBITaxon:272943	"" []	225767	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rhodobacter sphaeroides 2.4.1
NCBITaxon:272944	\N	\N	"" []	NCBITaxon:272944	"" []	72026	\N	\N	ncbi_taxonomy	0	EFO	Rickettsia conorii str. Malish 7	Rickettsia conorii str. Malish 7
NCBITaxon:2	NCBITaxon:272944	\N	"" []	NCBITaxon:272944	"" []	225768	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rickettsia conorii str. Malish 7
NCBITaxon:273057	\N	\N	"" []	NCBITaxon:273057	"" []	72027	\N	\N	ncbi_taxonomy	0	EFO	Sulfolobus solfataricus P2	Sulfolobus solfataricus P2
NCBITaxon:2157	NCBITaxon:273057	\N	"" []	NCBITaxon:273057	"" []	225769	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Sulfolobus solfataricus P2
NCBITaxon:273075	\N	\N	"" []	NCBITaxon:273075	"" []	72028	\N	\N	ncbi_taxonomy	0	EFO	Thermoplasma acidophilum DSM 1728	Thermoplasma acidophilum DSM 1728
NCBITaxon:2157	NCBITaxon:273075	\N	"" []	NCBITaxon:273075	"" []	225770	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Thermoplasma acidophilum DSM 1728
NCBITaxon:27334	\N	\N	"" []	NCBITaxon:27334	"" []	72029	\N	\N	ncbi_taxonomy	0	EFO	Penicillium expansum	Penicillium expansum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:27334	"" []	195155	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Penicillium expansum
NCBITaxon:273357	\N	\N	"" []	NCBITaxon:273357	"" []	72030	\N	\N	ncbi_taxonomy	0	EFO	Ngari virus	Ngari virus
NCBITaxon:10239	NCBITaxon:273357	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:273357	"" []	225771	\N	\N	ncbi_taxonomy	1	EFO	Virus	Ngari virus
NCBITaxon:273384	\N	\N	"" []	NCBITaxon:273384	"" []	72031	\N	\N	ncbi_taxonomy	0	EFO	Brevibacterium aurantiacum	Brevibacterium aurantiacum
NCBITaxon:2	NCBITaxon:273384	\N	"" []	NCBITaxon:273384	"" []	225772	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Brevibacterium aurantiacum
NCBITaxon:27606	\N	\N	"" []	NCBITaxon:27606	"" []	72033	\N	\N	ncbi_taxonomy	0	EFO	Eubalaena glacialis	Eubalaena glacialis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:27606	"" []	195156	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Eubalaena glacialis
NCBITaxon:27706	\N	\N	"" []	NCBITaxon:27706	"" []	72034	\N	\N	ncbi_taxonomy	0	EFO	Micropterus salmoides	Micropterus salmoides
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:27706	"" []	195157	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Micropterus salmoides
NCBITaxon:27771	\N	\N	"" []	NCBITaxon:27771	"" []	72035	\N	\N	ncbi_taxonomy	0	EFO	Limanda limanda	Limanda limanda
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:27771	"" []	195158	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Limanda limanda
NCBITaxon:278028	\N	\N	"" []	NCBITaxon:278028	"" []	72036	\N	\N	ncbi_taxonomy	0	EFO	Naumovozyma	Naumovozyma
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:278028	"" []	195159	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Naumovozyma
NCBITaxon:2788	\N	\N	"" []	NCBITaxon:2788	"" []	72037	\N	\N	ncbi_taxonomy	0	EFO	Pyropia yezoensis	Pyropia yezoensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:2788	"" []	195160	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pyropia yezoensis
NCBITaxon:28035	\N	\N	"" []	NCBITaxon:28035	"" []	72038	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus lugdunensis	Staphylococcus lugdunensis
NCBITaxon:2	NCBITaxon:28035	\N	"" []	NCBITaxon:28035	"" []	225773	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus lugdunensis
NCBITaxon:28037	\N	\N	"" []	NCBITaxon:28037	"" []	72039	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus mitis	Streptococcus mitis
NCBITaxon:2	NCBITaxon:28037	\N	"" []	NCBITaxon:28037	"" []	225774	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus mitis
NCBITaxon:28038	\N	\N	"" []	NCBITaxon:28038	"" []	72040	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus curvatus	Lactobacillus curvatus
NCBITaxon:2	NCBITaxon:28038	\N	"" []	NCBITaxon:28038	"" []	225775	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus curvatus
NCBITaxon:280463	\N	\N	"" []	NCBITaxon:280463	"" []	72041	\N	\N	ncbi_taxonomy	0	EFO	Emiliania huxleyi CCMP1516	Emiliania huxleyi CCMP1516
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:280463	"" []	195161	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Emiliania huxleyi CCMP1516
NCBITaxon:28081	\N	\N	"" []	NCBITaxon:28081	"" []	72042	\N	\N	ncbi_taxonomy	0	EFO	Bordetella sp.	Bordetella sp.
NCBITaxon:2	NCBITaxon:28081	\N	"" []	NCBITaxon:28081	"" []	225776	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bordetella sp.
NCBITaxon:28097	\N	\N	"" []	NCBITaxon:28097	"" []	72043	\N	\N	ncbi_taxonomy	0	EFO	Ralstonia syzygii	Ralstonia syzygii
NCBITaxon:2	NCBITaxon:28097	\N	"" []	NCBITaxon:28097	"" []	225777	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ralstonia syzygii
NCBITaxon:28116	\N	\N	"" []	NCBITaxon:28116	"" []	72044	\N	\N	ncbi_taxonomy	0	EFO	Bacteroides ovatus	Bacteroides ovatus
NCBITaxon:2	NCBITaxon:28116	\N	"" []	NCBITaxon:28116	"" []	225778	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacteroides ovatus
NCBITaxon:28147	\N	\N	"" []	NCBITaxon:28147	"" []	72045	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Oranienburg	Salmonella enterica subsp. enterica serovar Oranienburg
NCBITaxon:2	NCBITaxon:28147	\N	"" []	NCBITaxon:28147	"" []	225779	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Oranienburg
NCBITaxon:28150	\N	\N	"" []	NCBITaxon:28150	"" []	72046	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Senftenberg	Salmonella enterica subsp. enterica serovar Senftenberg
NCBITaxon:2	NCBITaxon:28150	\N	"" []	NCBITaxon:28150	"" []	225780	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Senftenberg
NCBITaxon:282458	\N	\N	"" []	NCBITaxon:282458	"" []	72048	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus aureus subsp. aureus MRSA252	Staphylococcus aureus subsp. aureus MRSA252
NCBITaxon:2	NCBITaxon:282458	\N	"" []	NCBITaxon:282458	"" []	225781	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus aureus subsp. aureus MRSA252
NCBITaxon:282459	\N	\N	"" []	NCBITaxon:282459	"" []	72049	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus aureus subsp. aureus MSSA476	Staphylococcus aureus subsp. aureus MSSA476
NCBITaxon:2	NCBITaxon:282459	\N	"" []	NCBITaxon:282459	"" []	225782	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus aureus subsp. aureus MSSA476
NCBITaxon:28280	\N	\N	"" []	NCBITaxon:28280	"" []	72050	\N	\N	ncbi_taxonomy	0	EFO	Human adenovirus 4	Human adenovirus 4
NCBITaxon:10239	NCBITaxon:28280	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:28280	"" []	225783	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human adenovirus 4
NCBITaxon:28284	\N	\N	"" []	NCBITaxon:28284	"" []	72051	\N	\N	ncbi_taxonomy	0	EFO	Human adenovirus 40	Human adenovirus 40
NCBITaxon:10239	NCBITaxon:28284	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:28284	"" []	225784	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human adenovirus 40
NCBITaxon:28285	\N	\N	"" []	NCBITaxon:28285	"" []	72052	\N	\N	ncbi_taxonomy	0	EFO	Human adenovirus 5	Human adenovirus 5
NCBITaxon:10239	NCBITaxon:28285	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:28285	"" []	225785	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human adenovirus 5
NCBITaxon:28377	\N	\N	"" []	NCBITaxon:28377	"" []	72053	\N	\N	ncbi_taxonomy	0	EFO	Anolis carolinensis	Anolis carolinensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:28377	"" []	195162	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Anolis carolinensis
NCBITaxon:28450	\N	\N	"" []	NCBITaxon:28450	"" []	72054	\N	\N	ncbi_taxonomy	0	EFO	Burkholderia pseudomallei	Burkholderia pseudomallei
NCBITaxon:2	NCBITaxon:28450	\N	"" []	NCBITaxon:28450	"" []	225786	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Burkholderia pseudomallei
NCBITaxon:284812	\N	\N	"" []	NCBITaxon:284812	"" []	72055	\N	\N	ncbi_taxonomy	0	EFO	Schizosaccharomyces pombe 972h-	Schizosaccharomyces pombe 972h-
NCBITaxon:4896	NCBITaxon:284812	\N	"" []	NCBITaxon:284812	"" []	225787	\N	\N	ncbi_taxonomy	1	EFO	Schizosaccharomyces pombe	Schizosaccharomyces pombe 972h-
NCBITaxon:2850	\N	\N	"" []	NCBITaxon:2850	"" []	72056	\N	\N	ncbi_taxonomy	0	EFO	Phaeodactylum tricornutum	Phaeodactylum tricornutum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:2850	"" []	195163	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Phaeodactylum tricornutum
NCBITaxon:28572	\N	\N	"" []	NCBITaxon:28572	"" []	72057	\N	\N	ncbi_taxonomy	0	EFO	Penicillium funiculosum	Penicillium funiculosum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:28572	"" []	195164	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Penicillium funiculosum
NCBITaxon:285720	\N	\N	"" []	NCBITaxon:285720	"" []	72058	\N	\N	ncbi_taxonomy	0	EFO	Senecio cambrensis	Senecio cambrensis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:285720	"" []	195165	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Senecio cambrensis
NCBITaxon:28573	\N	\N	"" []	NCBITaxon:28573	"" []	72059	\N	\N	ncbi_taxonomy	0	EFO	Penicillium islandicum	Penicillium islandicum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:28573	"" []	195166	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Penicillium islandicum
NCBITaxon:285950	\N	\N	"" []	NCBITaxon:285950	"" []	72060	\N	\N	ncbi_taxonomy	0	EFO	Aegilops tauschii x Triticum turgidum	Aegilops tauschii x Triticum turgidum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:285950	"" []	195167	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Aegilops tauschii x Triticum turgidum
NCBITaxon:28610	\N	\N	"" []	NCBITaxon:28610	"" []	72062	\N	\N	ncbi_taxonomy	0	EFO	Rhagoletis pomonella	Rhagoletis pomonella
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:28610	"" []	195169	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Rhagoletis pomonella
NCBITaxon:286192	\N	\N	"" []	NCBITaxon:286192	"" []	72063	\N	\N	ncbi_taxonomy	0	EFO	Saccharum officinarum complex	Saccharum officinarum complex
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:286192	"" []	195170	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Saccharum officinarum complex
NCBITaxon:286784	\N	\N	"" []	NCBITaxon:286784	"" []	72064	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Emek	Salmonella enterica subsp. enterica serovar Emek
NCBITaxon:2	NCBITaxon:286784	\N	"" []	NCBITaxon:286784	"" []	225788	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Emek
NCBITaxon:287	\N	\N	"" []	NCBITaxon:287	"" []	72065	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas aeruginosa	Pseudomonas aeruginosa
NCBITaxon:2	NCBITaxon:287	\N	"" []	NCBITaxon:287	"" []	225789	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudomonas aeruginosa
NCBITaxon:2879	\N	\N	"" []	NCBITaxon:2879	"" []	72066	\N	\N	ncbi_taxonomy	0	EFO	Ectocarpus	Ectocarpus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:2879	"" []	195171	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Ectocarpus
NCBITaxon:2880	\N	\N	"" []	NCBITaxon:2880	"" []	72067	\N	\N	ncbi_taxonomy	0	EFO	Ectocarpus siliculosus	Ectocarpus siliculosus
NCBITaxon:2879	NCBITaxon:2880	\N	"" []	NCBITaxon:2880	"" []	225790	\N	\N	ncbi_taxonomy	1	EFO	Ectocarpus	Ectocarpus siliculosus
NCBITaxon:28829	\N	\N	"" []	NCBITaxon:28829	"" []	72068	\N	\N	ncbi_taxonomy	0	EFO	Solea senegalensis	Solea senegalensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:28829	"" []	195172	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Solea senegalensis
NCBITaxon:28841	\N	\N	"" []	NCBITaxon:28841	"" []	72069	\N	\N	ncbi_taxonomy	0	EFO	Moniezia expansa	Moniezia expansa
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:28841	"" []	195173	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Moniezia expansa
NCBITaxon:28901	\N	\N	"" []	NCBITaxon:28901	"" []	72070	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica	Salmonella enterica
NCBITaxon:2	NCBITaxon:28901	\N	"" []	NCBITaxon:28901	"" []	225791	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica
NCBITaxon:28930	\N	\N	"" []	NCBITaxon:28930	"" []	72071	\N	\N	ncbi_taxonomy	0	EFO	Fagus sylvatica	Fagus sylvatica
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:28930	"" []	195174	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Fagus sylvatica
NCBITaxon:28985	\N	\N	"" []	NCBITaxon:28985	"" []	72072	\N	\N	ncbi_taxonomy	0	EFO	Kluyveromyces lactis	Kluyveromyces lactis
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:28985	"" []	195175	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Kluyveromyces lactis
NCBITaxon:2903	\N	\N	"" []	NCBITaxon:2903	"" []	72073	\N	\N	ncbi_taxonomy	0	EFO	Emiliania huxleyi	Emiliania huxleyi
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:2903	"" []	195176	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Emiliania huxleyi
NCBITaxon:290397	\N	\N	"" []	NCBITaxon:290397	"" []	72074	\N	\N	ncbi_taxonomy	0	EFO	Anaeromyxobacter dehalogenans 2CP-C	Anaeromyxobacter dehalogenans 2CP-C
NCBITaxon:2	NCBITaxon:290397	\N	"" []	NCBITaxon:290397	"" []	225792	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Anaeromyxobacter dehalogenans 2CP-C
NCBITaxon:290402	\N	\N	"" []	NCBITaxon:290402	"" []	72075	\N	\N	ncbi_taxonomy	0	EFO	Clostridium beijerinckii NCIMB 8052	Clostridium beijerinckii NCIMB 8052
NCBITaxon:2	NCBITaxon:290402	\N	"" []	NCBITaxon:290402	"" []	225793	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium beijerinckii NCIMB 8052
NCBITaxon:29058	\N	\N	"" []	NCBITaxon:29058	"" []	72076	\N	\N	ncbi_taxonomy	0	EFO	Helicoverpa armigera	Helicoverpa armigera
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:29058	"" []	195177	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Helicoverpa armigera
NCBITaxon:291331	\N	\N	"" []	NCBITaxon:291331	"" []	72077	\N	\N	ncbi_taxonomy	0	EFO	Xanthomonas oryzae pv. oryzae KACC10331	Xanthomonas oryzae pv. oryzae KACC10331
NCBITaxon:2	NCBITaxon:291331	\N	"" []	NCBITaxon:291331	"" []	225794	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Xanthomonas oryzae pv. oryzae KACC10331
NCBITaxon:29149	\N	\N	"" []	NCBITaxon:29149	"" []	72078	\N	\N	ncbi_taxonomy	0	EFO	Protomelas similis	Protomelas similis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:29149	"" []	195178	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Protomelas similis
NCBITaxon:29158	\N	\N	"" []	NCBITaxon:29158	"" []	72079	\N	\N	ncbi_taxonomy	0	EFO	Mytilus galloprovincialis	Mytilus galloprovincialis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:29158	"" []	195179	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Mytilus galloprovincialis
NCBITaxon:29159	\N	\N	"" []	NCBITaxon:29159	"" []	72080	\N	\N	ncbi_taxonomy	0	EFO	Crassostrea gigas	Crassostrea gigas
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:29159	"" []	195180	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Crassostrea gigas
NCBITaxon:29176	\N	\N	"" []	NCBITaxon:29176	"" []	72081	\N	\N	ncbi_taxonomy	0	EFO	Neospora caninum	Neospora caninum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:29176	"" []	195181	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Neospora caninum
NCBITaxon:291982	\N	\N	"" []	NCBITaxon:291982	"" []	72082	\N	\N	ncbi_taxonomy	0	EFO	Strombus gigas	Strombus gigas
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:291982	"" []	195182	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Strombus gigas
NCBITaxon:292	\N	\N	"" []	NCBITaxon:292	"" []	72083	\N	\N	ncbi_taxonomy	0	EFO	Burkholderia cepacia	Burkholderia cepacia
NCBITaxon:2	NCBITaxon:292	\N	"" []	NCBITaxon:292	"" []	225795	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Burkholderia cepacia
NCBITaxon:2926	\N	\N	"" []	NCBITaxon:2926	"" []	72084	\N	\N	ncbi_taxonomy	0	EFO	Alexandrium tamarense	Alexandrium tamarense
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:2926	"" []	195183	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Alexandrium tamarense
NCBITaxon:29291	\N	\N	"" []	NCBITaxon:29291	"" []	72085	\N	\N	ncbi_taxonomy	0	EFO	Methanococcoides burtonii	Methanococcoides burtonii
NCBITaxon:2157	NCBITaxon:29291	\N	"" []	NCBITaxon:29291	"" []	225796	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Methanococcoides burtonii
NCBITaxon:29303	\N	\N	"" []	NCBITaxon:29303	"" []	72086	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces cattleya	Streptomyces cattleya
NCBITaxon:2	NCBITaxon:29303	\N	"" []	NCBITaxon:29303	"" []	225797	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces cattleya
NCBITaxon:29341	\N	\N	"" []	NCBITaxon:29341	"" []	72087	\N	\N	ncbi_taxonomy	0	EFO	Clostridium argentinense	Clostridium argentinense
NCBITaxon:2	NCBITaxon:29341	\N	"" []	NCBITaxon:29341	"" []	225798	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium argentinense
NCBITaxon:293653	\N	\N	"" []	NCBITaxon:293653	"" []	72088	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus pyogenes MGAS5005	Streptococcus pyogenes MGAS5005
NCBITaxon:2	NCBITaxon:293653	\N	"" []	NCBITaxon:293653	"" []	225799	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus pyogenes MGAS5005
NCBITaxon:29385	\N	\N	"" []	NCBITaxon:29385	"" []	72089	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus saprophyticus	Staphylococcus saprophyticus
NCBITaxon:2	NCBITaxon:29385	\N	"" []	NCBITaxon:29385	"" []	225800	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus saprophyticus
NCBITaxon:29390	\N	\N	"" []	NCBITaxon:29390	"" []	72090	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus gordonii str. Challis	Streptococcus gordonii str. Challis
NCBITaxon:2	NCBITaxon:29390	\N	"" []	NCBITaxon:29390	"" []	225801	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus gordonii str. Challis
NCBITaxon:294	\N	\N	"" []	NCBITaxon:294	"" []	72091	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas fluorescens	Pseudomonas fluorescens
NCBITaxon:2	NCBITaxon:294	\N	"" []	NCBITaxon:294	"" []	225802	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudomonas fluorescens
NCBITaxon:29459	\N	\N	"" []	NCBITaxon:29459	"" []	72092	\N	\N	ncbi_taxonomy	0	EFO	Brucella melitensis	Brucella melitensis
NCBITaxon:2	NCBITaxon:29459	\N	"" []	NCBITaxon:29459	"" []	225803	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Brucella melitensis
NCBITaxon:29471	\N	\N	"" []	NCBITaxon:29471	"" []	72093	\N	\N	ncbi_taxonomy	0	EFO	Pectobacterium atrosepticum	Pectobacterium atrosepticum
NCBITaxon:2	NCBITaxon:29471	\N	"" []	NCBITaxon:29471	"" []	225804	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pectobacterium atrosepticum
NCBITaxon:294748	\N	\N	"" []	NCBITaxon:294748	"" []	72094	\N	\N	ncbi_taxonomy	0	EFO	Candida albicans WO-1	Candida albicans WO-1
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:294748	"" []	195184	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Candida albicans WO-1
NCBITaxon:294934	\N	\N	"" []	NCBITaxon:294934	"" []	72095	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus pyogenes M49 591	Streptococcus pyogenes M49 591
NCBITaxon:2	NCBITaxon:294934	\N	"" []	NCBITaxon:294934	"" []	225805	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus pyogenes M49 591
NCBITaxon:295405	\N	\N	"" []	NCBITaxon:295405	"" []	72096	\N	\N	ncbi_taxonomy	0	EFO	Bacteroides fragilis YCH46	Bacteroides fragilis YCH46
NCBITaxon:2	NCBITaxon:295405	\N	"" []	NCBITaxon:295405	"" []	225806	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacteroides fragilis YCH46
NCBITaxon:29544	\N	\N	"" []	NCBITaxon:29544	"" []	72097	\N	\N	ncbi_taxonomy	0	EFO	Azoarcus sp.	Azoarcus sp.
NCBITaxon:2	NCBITaxon:29544	\N	"" []	NCBITaxon:29544	"" []	225807	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Azoarcus sp.
NCBITaxon:29583	\N	\N	"" []	NCBITaxon:29583	"" []	72098	\N	\N	ncbi_taxonomy	0	EFO	Funaria hygrometrica	Funaria hygrometrica
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:29583	"" []	195185	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Funaria hygrometrica
NCBITaxon:29596	\N	\N	"" []	NCBITaxon:29596	"" []	72099	\N	\N	ncbi_taxonomy	0	EFO	Ceratopteris thalictroides	Ceratopteris thalictroides
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:29596	"" []	195186	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Ceratopteris thalictroides
NCBITaxon:296543	\N	\N	"" []	NCBITaxon:296543	"" []	72100	\N	\N	ncbi_taxonomy	0	EFO	Thalassiosira pseudonana CCMP1335	Thalassiosira pseudonana CCMP1335
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:296543	"" []	195187	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Thalassiosira pseudonana CCMP1335
NCBITaxon:29655	\N	\N	"" []	NCBITaxon:29655	"" []	72101	\N	\N	ncbi_taxonomy	0	EFO	Zostera marina	Zostera marina
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:29655	"" []	195188	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Zostera marina
NCBITaxon:296591	\N	\N	"" []	NCBITaxon:296591	"" []	72102	\N	\N	ncbi_taxonomy	0	EFO	Polaromonas sp. JS666	Polaromonas sp. JS666
NCBITaxon:2	NCBITaxon:296591	\N	"" []	NCBITaxon:296591	"" []	225808	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Polaromonas sp. JS666
NCBITaxon:29706	\N	\N	"" []	NCBITaxon:29706	"" []	72103	\N	\N	ncbi_taxonomy	0	EFO	Spartina alterniflora	Spartina alterniflora
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:29706	"" []	195189	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Spartina alterniflora
NCBITaxon:29729	\N	\N	"" []	NCBITaxon:29729	"" []	72104	\N	\N	ncbi_taxonomy	0	EFO	Gossypium arboreum	Gossypium arboreum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:29729	"" []	195190	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Gossypium arboreum
NCBITaxon:29760	\N	\N	"" []	NCBITaxon:29760	"" []	72105	\N	\N	ncbi_taxonomy	0	EFO	Vitis vinifera	Vitis vinifera
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:29760	"" []	195191	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Vitis vinifera
NCBITaxon:298378	\N	\N	"" []	NCBITaxon:298378	"" []	72106	\N	\N	ncbi_taxonomy	0	EFO	Fusarium incarnatum	Fusarium incarnatum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:298378	"" []	195192	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Fusarium incarnatum
NCBITaxon:29875	\N	\N	"" []	NCBITaxon:29875	"" []	72107	\N	\N	ncbi_taxonomy	0	EFO	Hypocrea virens	Hypocrea virens
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:29875	"" []	195193	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Hypocrea virens
NCBITaxon:29883	\N	\N	"" []	NCBITaxon:29883	"" []	72108	\N	\N	ncbi_taxonomy	0	EFO	Laccaria bicolor	Laccaria bicolor
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:29883	"" []	195194	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Laccaria bicolor
NCBITaxon:299033	\N	\N	"" []	NCBITaxon:299033	"" []	72109	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus reuteri F275	Lactobacillus reuteri F275
NCBITaxon:2	NCBITaxon:299033	\N	"" []	NCBITaxon:299033	"" []	225809	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus reuteri F275
NCBITaxon:29916	\N	\N	"" []	NCBITaxon:29916	"" []	72110	\N	\N	ncbi_taxonomy	0	EFO	Fusarium sp.	Fusarium sp.
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:29916	"" []	195195	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Fusarium sp.
NCBITaxon:299768	\N	\N	"" []	NCBITaxon:299768	"" []	72111	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus thermophilus CNRZ1066	Streptococcus thermophilus CNRZ1066
NCBITaxon:2	NCBITaxon:299768	\N	"" []	NCBITaxon:299768	"" []	225810	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus thermophilus CNRZ1066
NCBITaxon:300	\N	\N	"" []	NCBITaxon:300	"" []	72112	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas mendocina	Pseudomonas mendocina
NCBITaxon:2	NCBITaxon:300	\N	"" []	NCBITaxon:300	"" []	225811	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudomonas mendocina
NCBITaxon:300275	\N	\N	"" []	NCBITaxon:300275	"" []	72113	\N	\N	ncbi_taxonomy	0	EFO	Lachancea	Lachancea
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:300275	"" []	195196	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Lachancea
NCBITaxon:300852	\N	\N	"" []	NCBITaxon:300852	"" []	72114	\N	\N	ncbi_taxonomy	0	EFO	Thermus thermophilus HB8	Thermus thermophilus HB8
NCBITaxon:2	NCBITaxon:300852	\N	"" []	NCBITaxon:300852	"" []	225812	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Thermus thermophilus HB8
NCBITaxon:302911	\N	\N	"" []	NCBITaxon:302911	"" []	72115	\N	\N	ncbi_taxonomy	0	EFO	Bifidobacterium animalis subsp. lactis	Bifidobacterium animalis subsp. lactis
NCBITaxon:2	NCBITaxon:302911	\N	"" []	NCBITaxon:302911	"" []	225813	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bifidobacterium animalis subsp. lactis
NCBITaxon:303	\N	\N	"" []	NCBITaxon:303	"" []	72116	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas putida	Pseudomonas putida
NCBITaxon:2	NCBITaxon:303	\N	"" []	NCBITaxon:303	"" []	225814	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudomonas putida
NCBITaxon:305	\N	\N	"" []	NCBITaxon:305	"" []	72117	\N	\N	ncbi_taxonomy	0	EFO	Ralstonia solanacearum	Ralstonia solanacearum
NCBITaxon:2	NCBITaxon:305	\N	"" []	NCBITaxon:305	"" []	225815	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ralstonia solanacearum
NCBITaxon:3055	\N	\N	"" []	NCBITaxon:3055	"" []	72118	\N	\N	ncbi_taxonomy	0	EFO	Chlamydomonas reinhardtii	Chlamydomonas reinhardtii
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3055	"" []	195197	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Chlamydomonas reinhardtii
NCBITaxon:30608	\N	\N	"" []	NCBITaxon:30608	"" []	72119	\N	\N	ncbi_taxonomy	0	EFO	Microcebus murinus	Microcebus murinus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:30608	"" []	195198	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Microcebus murinus
NCBITaxon:3067	\N	\N	"" []	NCBITaxon:3067	"" []	72120	\N	\N	ncbi_taxonomy	0	EFO	Volvox carteri	Volvox carteri
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3067	"" []	195199	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Volvox carteri
NCBITaxon:308872	\N	\N	"" []	NCBITaxon:308872	"" []	72121	\N	\N	ncbi_taxonomy	0	EFO	Phalaenopsis aphrodite subsp. formosana	Phalaenopsis aphrodite subsp. formosana
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:308872	"" []	195200	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Phalaenopsis aphrodite subsp. formosana
NCBITaxon:309358	\N	\N	"" []	NCBITaxon:309358	"" []	72122	\N	\N	ncbi_taxonomy	0	EFO	Saccharina latissima	Saccharina latissima
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:309358	"" []	195201	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Saccharina latissima
NCBITaxon:311424	\N	\N	"" []	NCBITaxon:311424	"" []	72124	\N	\N	ncbi_taxonomy	0	EFO	Dehalococcoides sp. VS	Dehalococcoides sp. VS
NCBITaxon:2	NCBITaxon:311424	\N	"" []	NCBITaxon:311424	"" []	225816	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Dehalococcoides sp. VS
NCBITaxon:31192	\N	\N	"" []	NCBITaxon:31192	"" []	72125	\N	\N	ncbi_taxonomy	0	EFO	Holothuria glaberrima	Holothuria glaberrima
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:31192	"" []	195202	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Holothuria glaberrima
NCBITaxon:311982	\N	\N	"" []	NCBITaxon:311982	"" []	72126	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces hygroscopicus subsp. jinggangensis	Streptomyces hygroscopicus subsp. jinggangensis
NCBITaxon:2	NCBITaxon:311982	\N	"" []	NCBITaxon:311982	"" []	225817	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces hygroscopicus subsp. jinggangensis
NCBITaxon:31234	\N	\N	"" []	NCBITaxon:31234	"" []	72127	\N	\N	ncbi_taxonomy	0	EFO	Caenorhabditis remanei	Caenorhabditis remanei
NCBITaxon:6237	\N	\N	"" []	NCBITaxon:31234	"" []	195203	\N	\N	ncbi_taxonomy	0	EFO	Caenorhabditis	Caenorhabditis remanei
NCBITaxon:31271	\N	\N	"" []	NCBITaxon:31271	"" []	72128	\N	\N	ncbi_taxonomy	0	EFO	Plasmodium chabaudi chabaudi	Plasmodium chabaudi chabaudi
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:31271	"" []	195204	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Plasmodium chabaudi chabaudi
NCBITaxon:31285	\N	\N	"" []	NCBITaxon:31285	"" []	72129	\N	\N	ncbi_taxonomy	0	EFO	Trypanosoma brucei gambiense	Trypanosoma brucei gambiense
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:31285	"" []	195205	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Trypanosoma brucei gambiense
NCBITaxon:31537	\N	\N	"" []	NCBITaxon:31537	"" []	72130	\N	\N	ncbi_taxonomy	0	EFO	Lactococcus phage c2	Lactococcus phage c2
NCBITaxon:10239	NCBITaxon:31537	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:31537	"" []	225818	\N	\N	ncbi_taxonomy	1	EFO	Virus	Lactococcus phage c2
NCBITaxon:316275	\N	\N	"" []	NCBITaxon:316275	"" []	72131	\N	\N	ncbi_taxonomy	0	EFO	Aliivibrio salmonicida LFI1238	Aliivibrio salmonicida LFI1238
NCBITaxon:2	NCBITaxon:316275	\N	"" []	NCBITaxon:316275	"" []	225819	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Aliivibrio salmonicida LFI1238
NCBITaxon:318829	\N	\N	"" []	NCBITaxon:318829	"" []	72134	\N	\N	ncbi_taxonomy	0	EFO	Magnaporthe oryzae	Magnaporthe oryzae
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:318829	"" []	195207	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Magnaporthe oryzae
NCBITaxon:31899	\N	\N	"" []	NCBITaxon:31899	"" []	72135	\N	\N	ncbi_taxonomy	0	EFO	Caldicellulosiruptor bescii	Caldicellulosiruptor bescii
NCBITaxon:2	NCBITaxon:31899	\N	"" []	NCBITaxon:31899	"" []	225820	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Caldicellulosiruptor bescii
NCBITaxon:319	\N	\N	"" []	NCBITaxon:319	"" []	72136	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas syringae pv. phaseolicola	Pseudomonas syringae pv. phaseolicola
NCBITaxon:2	NCBITaxon:319	\N	"" []	NCBITaxon:319	"" []	225821	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudomonas syringae pv. phaseolicola
NCBITaxon:319701	\N	\N	"" []	NCBITaxon:319701	"" []	72137	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus pyogenes MGAS6180	Streptococcus pyogenes MGAS6180
NCBITaxon:2	NCBITaxon:319701	\N	"" []	NCBITaxon:319701	"" []	225822	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus pyogenes MGAS6180
NCBITaxon:32025	\N	\N	"" []	NCBITaxon:32025	"" []	72138	\N	\N	ncbi_taxonomy	0	EFO	Helicobacter hepaticus	Helicobacter hepaticus
NCBITaxon:2	NCBITaxon:32025	\N	"" []	NCBITaxon:32025	"" []	225823	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Helicobacter hepaticus
NCBITaxon:32046	\N	\N	"" []	NCBITaxon:32046	"" []	72139	\N	\N	ncbi_taxonomy	0	EFO	Synechococcus elongatus	Synechococcus elongatus
NCBITaxon:2	NCBITaxon:32046	\N	"" []	NCBITaxon:32046	"" []	225824	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Synechococcus elongatus
NCBITaxon:3218	\N	\N	"" []	NCBITaxon:3218	"" []	72140	\N	\N	ncbi_taxonomy	0	EFO	Physcomitrella patens	Physcomitrella patens
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3218	"" []	195208	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Physcomitrella patens
NCBITaxon:321956	\N	\N	"" []	NCBITaxon:321956	"" []	72141	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus delbrueckii subsp. bulgaricus ATCC BAA-365	Lactobacillus delbrueckii subsp. bulgaricus ATCC BAA-365
NCBITaxon:2	NCBITaxon:321956	\N	"" []	NCBITaxon:321956	"" []	225825	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus delbrueckii subsp. bulgaricus ATCC BAA-365
NCBITaxon:32247	\N	\N	"" []	NCBITaxon:32247	"" []	72142	\N	\N	ncbi_taxonomy	0	EFO	Rubus idaeus	Rubus idaeus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:32247	"" []	195209	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Rubus idaeus
NCBITaxon:32264	\N	\N	"" []	NCBITaxon:32264	"" []	72143	\N	\N	ncbi_taxonomy	0	EFO	Tetranychus urticae	Tetranychus urticae
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:32264	"" []	195210	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Tetranychus urticae
NCBITaxon:323	\N	\N	"" []	NCBITaxon:323	"" []	72144	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas syringae pv. tomato {has_synonym_type="equivalent_name"}	Pseudomonas syringae pv. tomato {has_synonym_type="equivalent_name"}
NCBITaxon:2	NCBITaxon:323	\N	"" []	NCBITaxon:323	"" []	225826	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudomonas syringae pv. tomato {has_synonym_type="equivalent_name"}
NCBITaxon:3246	\N	\N	"" []	NCBITaxon:3246	"" []	72145	\N	\N	ncbi_taxonomy	0	EFO	Selaginella	Selaginella
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3246	"" []	195211	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Selaginella
NCBITaxon:32499	\N	\N	"" []	NCBITaxon:32499	"" []	72146	\N	\N	ncbi_taxonomy	0	EFO	Julidochromis marlieri	Julidochromis marlieri
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:32499	"" []	195212	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Julidochromis marlieri
NCBITaxon:32507	\N	\N	"" []	NCBITaxon:32507	"" []	72147	\N	\N	ncbi_taxonomy	0	EFO	Neolamprologus brichardi	Neolamprologus brichardi
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:32507	"" []	195213	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Neolamprologus brichardi
NCBITaxon:326028	\N	\N	"" []	NCBITaxon:326028	"" []	72149	\N	\N	ncbi_taxonomy	0	EFO	Geranium dissectum	Geranium dissectum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:326028	"" []	195214	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Geranium dissectum
NCBITaxon:32604	\N	\N	"" []	NCBITaxon:32604	"" []	72150	\N	\N	ncbi_taxonomy	0	EFO	Human herpesvirus 6B	Human herpesvirus 6B
NCBITaxon:10239	NCBITaxon:32604	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:32604	"" []	225827	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human herpesvirus 6B
NCBITaxon:32630	\N	\N	"" []	NCBITaxon:32630	"" []	72151	\N	\N	ncbi_taxonomy	0	EFO	synthetic construct	synthetic construct
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:32630	"" []	195215	\N	\N	ncbi_taxonomy	0	EFO	organism	synthetic construct
NCBITaxon:326424	\N	\N	"" []	NCBITaxon:326424	"" []	72152	\N	\N	ncbi_taxonomy	0	EFO	Frankia alni ACN14a	Frankia alni ACN14a
NCBITaxon:2	NCBITaxon:326424	\N	"" []	NCBITaxon:326424	"" []	225828	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Frankia alni ACN14a
NCBITaxon:326425	\N	\N	"" []	NCBITaxon:326425	"" []	72153	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus helveticus CNRZ32	Lactobacillus helveticus CNRZ32
NCBITaxon:2	NCBITaxon:326425	\N	"" []	NCBITaxon:326425	"" []	225829	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus helveticus CNRZ32
NCBITaxon:326426	\N	\N	"" []	NCBITaxon:326426	"" []	72154	\N	\N	ncbi_taxonomy	0	EFO	Bifidobacterium breve UCC2003	Bifidobacterium breve UCC2003
NCBITaxon:2	NCBITaxon:326426	\N	"" []	NCBITaxon:326426	"" []	225830	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bifidobacterium breve UCC2003
NCBITaxon:328808	\N	\N	"" []	NCBITaxon:328808	"" []	72155	\N	\N	ncbi_taxonomy	0	EFO	Streptopelia risoria	Streptopelia risoria
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:328808	"" []	195216	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Streptopelia risoria
NCBITaxon:329	\N	\N	"" []	NCBITaxon:329	"" []	72156	\N	\N	ncbi_taxonomy	0	EFO	Ralstonia pickettii	Ralstonia pickettii
NCBITaxon:2	NCBITaxon:329	\N	"" []	NCBITaxon:329	"" []	225831	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ralstonia pickettii
NCBITaxon:33045	\N	\N	"" []	NCBITaxon:33045	"" []	72157	\N	\N	ncbi_taxonomy	0	EFO	Bartonella grahamii	Bartonella grahamii
NCBITaxon:2	NCBITaxon:33045	\N	"" []	NCBITaxon:33045	"" []	225832	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bartonella grahamii
NCBITaxon:330779	\N	\N	"" []	NCBITaxon:330779	"" []	72158	\N	\N	ncbi_taxonomy	0	EFO	Sulfolobus acidocaldarius DSM 639	Sulfolobus acidocaldarius DSM 639
NCBITaxon:2157	NCBITaxon:330779	\N	"" []	NCBITaxon:330779	"" []	225833	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Sulfolobus acidocaldarius DSM 639
NCBITaxon:33085	\N	\N	"" []	NCBITaxon:33085	"" []	72159	\N	\N	ncbi_taxonomy	0	EFO	Entamoeba invadens	Entamoeba invadens
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:33085	"" []	195217	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Entamoeba invadens
NCBITaxon:330879	\N	\N	"" []	NCBITaxon:330879	"" []	72160	\N	\N	ncbi_taxonomy	0	EFO	Aspergillus fumigatus Af293	Aspergillus fumigatus Af293
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:330879	"" []	195218	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Aspergillus fumigatus Af293
NCBITaxon:3311	\N	\N	"" []	NCBITaxon:3311	"" []	72162	\N	\N	ncbi_taxonomy	0	EFO	Ginkgo biloba	Ginkgo biloba
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3311	"" []	195219	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Ginkgo biloba
NCBITaxon:33125	\N	\N	"" []	NCBITaxon:33125	"" []	72163	\N	\N	ncbi_taxonomy	0	EFO	Lepidium sativum	Lepidium sativum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:33125	"" []	195220	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Lepidium sativum
NCBITaxon:332112	\N	\N	"" []	NCBITaxon:332112	"" []	72166	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces cerevisiae x Saccharomyces kudriavzevii	Saccharomyces cerevisiae x Saccharomyces kudriavzevii
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:332112	"" []	195221	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces cerevisiae x Saccharomyces kudriavzevii
NCBITaxon:3326	\N	\N	"" []	NCBITaxon:3326	"" []	72167	\N	\N	ncbi_taxonomy	0	EFO	Larix laricina	Larix laricina
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3326	"" []	195222	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Larix laricina
NCBITaxon:3329	\N	\N	"" []	NCBITaxon:3329	"" []	72168	\N	\N	ncbi_taxonomy	0	EFO	Picea abies	Picea abies
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3329	"" []	195223	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Picea abies
NCBITaxon:3330	\N	\N	"" []	NCBITaxon:3330	"" []	72169	\N	\N	ncbi_taxonomy	0	EFO	Picea glauca	Picea glauca
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3330	"" []	195224	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Picea glauca
NCBITaxon:3332	\N	\N	"" []	NCBITaxon:3332	"" []	72170	\N	\N	ncbi_taxonomy	0	EFO	Picea sitchensis	Picea sitchensis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3332	"" []	195225	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Picea sitchensis
NCBITaxon:3335	\N	\N	"" []	NCBITaxon:3335	"" []	72171	\N	\N	ncbi_taxonomy	0	EFO	Picea mariana	Picea mariana
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3335	"" []	195226	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Picea mariana
NCBITaxon:3347	\N	\N	"" []	NCBITaxon:3347	"" []	72172	\N	\N	ncbi_taxonomy	0	EFO	Pinus radiata	Pinus radiata
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3347	"" []	195227	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pinus radiata
NCBITaxon:3348	\N	\N	"" []	NCBITaxon:3348	"" []	72173	\N	\N	ncbi_taxonomy	0	EFO	Pinus strobus	Pinus strobus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3348	"" []	195228	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pinus strobus
NCBITaxon:3349	\N	\N	"" []	NCBITaxon:3349	"" []	72174	\N	\N	ncbi_taxonomy	0	EFO	Pinus sylvestris	Pinus sylvestris
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3349	"" []	195229	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pinus sylvestris
NCBITaxon:335992	\N	\N	"" []	NCBITaxon:335992	"" []	72175	\N	\N	ncbi_taxonomy	0	EFO	Candidatus Pelagibacter ubique HTCC1062	Candidatus Pelagibacter ubique HTCC1062
NCBITaxon:2	NCBITaxon:335992	\N	"" []	NCBITaxon:335992	"" []	225834	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Candidatus Pelagibacter ubique HTCC1062
NCBITaxon:33653	\N	\N	"" []	NCBITaxon:33653	"" []	72177	\N	\N	ncbi_taxonomy	0	EFO	Cafeteria roenbergensis	Cafeteria roenbergensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:33653	"" []	195230	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cafeteria roenbergensis
NCBITaxon:33743	\N	\N	"" []	NCBITaxon:33743	"" []	72180	\N	\N	ncbi_taxonomy	0	EFO	Kyasanur forest disease virus	Kyasanur forest disease virus
NCBITaxon:10239	NCBITaxon:33743	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:33743	"" []	225835	\N	\N	ncbi_taxonomy	1	EFO	Virus	Kyasanur forest disease virus
NCBITaxon:338187	\N	\N	"" []	NCBITaxon:338187	"" []	72182	\N	\N	ncbi_taxonomy	0	EFO	Vibrio harveyi ATCC BAA-1116	Vibrio harveyi ATCC BAA-1116
NCBITaxon:2	NCBITaxon:338187	\N	"" []	NCBITaxon:338187	"" []	225836	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Vibrio harveyi ATCC BAA-1116
NCBITaxon:33858	\N	\N	"" []	NCBITaxon:33858	"" []	72183	\N	\N	ncbi_taxonomy	0	EFO	environmental samples	environmental samples
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:33858	"" []	195234	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	environmental samples
NCBITaxon:33892	\N	\N	"" []	NCBITaxon:33892	"" []	72184	\N	\N	ncbi_taxonomy	0	EFO	Mycobacterium bovis BCG	Mycobacterium bovis BCG
NCBITaxon:2	NCBITaxon:33892	\N	"" []	NCBITaxon:33892	"" []	225837	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycobacterium bovis BCG
NCBITaxon:33903	\N	\N	"" []	NCBITaxon:33903	"" []	72185	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces avermitilis	Streptomyces avermitilis
NCBITaxon:2	NCBITaxon:33903	\N	"" []	NCBITaxon:33903	"" []	225838	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces avermitilis
NCBITaxon:33959	\N	\N	"" []	NCBITaxon:33959	"" []	72186	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus johnsonii	Lactobacillus johnsonii
NCBITaxon:2	NCBITaxon:33959	\N	"" []	NCBITaxon:33959	"" []	225839	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus johnsonii
NCBITaxon:33964	\N	\N	"" []	NCBITaxon:33964	"" []	72187	\N	\N	ncbi_taxonomy	0	EFO	Leuconostoc citreum	Leuconostoc citreum
NCBITaxon:2	NCBITaxon:33964	\N	"" []	NCBITaxon:33964	"" []	225840	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Leuconostoc citreum
NCBITaxon:33968	\N	\N	"" []	NCBITaxon:33968	"" []	72188	\N	\N	ncbi_taxonomy	0	EFO	Leuconostoc pseudomesenteroides	Leuconostoc pseudomesenteroides
NCBITaxon:2	NCBITaxon:33968	\N	"" []	NCBITaxon:33968	"" []	225841	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Leuconostoc pseudomesenteroides
NCBITaxon:34	\N	\N	"" []	NCBITaxon:34	"" []	72189	\N	\N	ncbi_taxonomy	0	EFO	Myxococcus xanthus	Myxococcus xanthus
NCBITaxon:2	NCBITaxon:34	\N	"" []	NCBITaxon:34	"" []	225842	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Myxococcus xanthus
NCBITaxon:340	\N	\N	"" []	NCBITaxon:340	"" []	72190	\N	\N	ncbi_taxonomy	0	EFO	Xanthomonas campestris pv. campestris	Xanthomonas campestris pv. campestris
NCBITaxon:2	NCBITaxon:340	\N	"" []	NCBITaxon:340	"" []	225843	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Xanthomonas campestris pv. campestris
NCBITaxon:34063	\N	\N	"" []	NCBITaxon:34063	"" []	72191	\N	\N	ncbi_taxonomy	0	EFO	Actinobacillus pleuropneumoniae serovar 2	Actinobacillus pleuropneumoniae serovar 2
NCBITaxon:2	NCBITaxon:34063	\N	"" []	NCBITaxon:34063	"" []	225844	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Actinobacillus pleuropneumoniae serovar 2
NCBITaxon:3415	\N	\N	"" []	NCBITaxon:3415	"" []	72192	\N	\N	ncbi_taxonomy	0	EFO	Liriodendron tulipifera	Liriodendron tulipifera
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3415	"" []	195235	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Liriodendron tulipifera
NCBITaxon:34199	\N	\N	"" []	NCBITaxon:34199	"" []	72193	\N	\N	ncbi_taxonomy	0	EFO	Aloe vera	Aloe vera
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:34199	"" []	195236	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Aloe vera
NCBITaxon:342108	\N	\N	"" []	NCBITaxon:342108	"" []	72194	\N	\N	ncbi_taxonomy	0	EFO	Magnetospirillum magneticum AMB-1	Magnetospirillum magneticum AMB-1
NCBITaxon:2	NCBITaxon:342108	\N	"" []	NCBITaxon:342108	"" []	225845	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Magnetospirillum magneticum AMB-1
NCBITaxon:342110	\N	\N	"" []	NCBITaxon:342110	"" []	72195	\N	\N	ncbi_taxonomy	0	EFO	Ralstonia solanacearum UW551	Ralstonia solanacearum UW551
NCBITaxon:2	NCBITaxon:342110	\N	"" []	NCBITaxon:342110	"" []	225846	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ralstonia solanacearum UW551
NCBITaxon:34245	\N	\N	"" []	NCBITaxon:34245	"" []	72196	\N	\N	ncbi_taxonomy	0	EFO	Zinnia violacea	Zinnia violacea
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:34245	"" []	195237	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Zinnia violacea
NCBITaxon:34274	\N	\N	"" []	NCBITaxon:34274	"" []	72197	\N	\N	ncbi_taxonomy	0	EFO	Gossypium herbaceum	Gossypium herbaceum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:34274	"" []	195238	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Gossypium herbaceum
NCBITaxon:34275	\N	\N	"" []	NCBITaxon:34275	"" []	72198	\N	\N	ncbi_taxonomy	0	EFO	Gossypium mustelinum	Gossypium mustelinum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:34275	"" []	195239	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Gossypium mustelinum
NCBITaxon:34276	\N	\N	"" []	NCBITaxon:34276	"" []	72199	\N	\N	ncbi_taxonomy	0	EFO	Gossypium darwinii	Gossypium darwinii
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:34276	"" []	195240	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Gossypium darwinii
NCBITaxon:34277	\N	\N	"" []	NCBITaxon:34277	"" []	72200	\N	\N	ncbi_taxonomy	0	EFO	Gossypium tomentosum	Gossypium tomentosum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:34277	"" []	195241	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Gossypium tomentosum
NCBITaxon:34280	\N	\N	"" []	NCBITaxon:34280	"" []	72201	\N	\N	ncbi_taxonomy	0	EFO	Gossypium longicalyx	Gossypium longicalyx
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:34280	"" []	195242	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Gossypium longicalyx
NCBITaxon:34305	\N	\N	"" []	NCBITaxon:34305	"" []	72202	\N	\N	ncbi_taxonomy	0	EFO	Lotus japonicus	Lotus japonicus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:34305	"" []	195243	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Lotus japonicus
NCBITaxon:34317	\N	\N	"" []	NCBITaxon:34317	"" []	72203	\N	\N	ncbi_taxonomy	0	EFO	Eucalyptus globulus	Eucalyptus globulus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:34317	"" []	195244	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Eucalyptus globulus
NCBITaxon:3435	\N	\N	"" []	NCBITaxon:3435	"" []	72204	\N	\N	ncbi_taxonomy	0	EFO	Persea americana	Persea americana
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3435	"" []	195245	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Persea americana
NCBITaxon:34386	\N	\N	"" []	NCBITaxon:34386	"" []	72205	\N	\N	ncbi_taxonomy	0	EFO	Trichophyton schoenleinii	Trichophyton schoenleinii
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:34386	"" []	195246	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Trichophyton schoenleinii
NCBITaxon:34388	\N	\N	"" []	NCBITaxon:34388	"" []	72206	\N	\N	ncbi_taxonomy	0	EFO	Trichophyton violaceum	Trichophyton violaceum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:34388	"" []	195247	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Trichophyton violaceum
NCBITaxon:34391	\N	\N	"" []	NCBITaxon:34391	"" []	72207	\N	\N	ncbi_taxonomy	0	EFO	Epidermophyton floccosum	Epidermophyton floccosum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:34391	"" []	195248	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Epidermophyton floccosum
NCBITaxon:343990	\N	\N	"" []	NCBITaxon:343990	"" []	72208	\N	\N	ncbi_taxonomy	0	EFO	Populus maximowiczii x Populus nigra	Populus maximowiczii x Populus nigra
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:343990	"" []	195249	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus maximowiczii x Populus nigra
NCBITaxon:34506	\N	\N	"" []	NCBITaxon:34506	"" []	72209	\N	\N	ncbi_taxonomy	0	EFO	Strongyloides ratti	Strongyloides ratti
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:34506	"" []	195250	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Strongyloides ratti
NCBITaxon:346187	\N	\N	"" []	NCBITaxon:346187	"" []	72210	\N	\N	ncbi_taxonomy	0	EFO	Teleopsis thaii	Teleopsis thaii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:346187	"" []	195251	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Teleopsis thaii
NCBITaxon:34620	\N	\N	"" []	NCBITaxon:34620	"" []	72211	\N	\N	ncbi_taxonomy	0	EFO	Dermacentor andersoni	Dermacentor andersoni
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:34620	"" []	195252	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Dermacentor andersoni
NCBITaxon:3467	\N	\N	"" []	NCBITaxon:3467	"" []	72212	\N	\N	ncbi_taxonomy	0	EFO	Eschscholzia californica	Eschscholzia californica
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3467	"" []	195253	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Eschscholzia californica
NCBITaxon:3469	\N	\N	"" []	NCBITaxon:3469	"" []	72213	\N	\N	ncbi_taxonomy	0	EFO	Papaver somniferum	Papaver somniferum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3469	"" []	195254	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Papaver somniferum
NCBITaxon:347834	\N	\N	"" []	NCBITaxon:347834	"" []	72214	\N	\N	ncbi_taxonomy	0	EFO	Rhizobium etli CFN 42	Rhizobium etli CFN 42
NCBITaxon:2	NCBITaxon:347834	\N	"" []	NCBITaxon:347834	"" []	225847	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rhizobium etli CFN 42
NCBITaxon:3483	\N	\N	"" []	NCBITaxon:3483	"" []	72215	\N	\N	ncbi_taxonomy	0	EFO	Cannabis sativa	Cannabis sativa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3483	"" []	195255	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Cannabis sativa
NCBITaxon:3486	\N	\N	"" []	NCBITaxon:3486	"" []	72216	\N	\N	ncbi_taxonomy	0	EFO	Humulus lupulus	Humulus lupulus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3486	"" []	195256	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Humulus lupulus
NCBITaxon:349123	\N	\N	"" []	NCBITaxon:349123	"" []	72217	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus reuteri 100-23	Lactobacillus reuteri 100-23
NCBITaxon:2	NCBITaxon:349123	\N	"" []	NCBITaxon:349123	"" []	225848	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus reuteri 100-23
NCBITaxon:349161	\N	\N	"" []	NCBITaxon:349161	"" []	72218	\N	\N	ncbi_taxonomy	0	EFO	Desulfotomaculum reducens MI-1	Desulfotomaculum reducens MI-1
NCBITaxon:2	NCBITaxon:349161	\N	"" []	NCBITaxon:349161	"" []	225849	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Desulfotomaculum reducens MI-1
NCBITaxon:3505	\N	\N	"" []	NCBITaxon:3505	"" []	72219	\N	\N	ncbi_taxonomy	0	EFO	Betula pendula	Betula pendula
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3505	"" []	195257	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Betula pendula
NCBITaxon:35128	\N	\N	"" []	NCBITaxon:35128	"" []	72220	\N	\N	ncbi_taxonomy	0	EFO	Thalassiosira pseudonana	Thalassiosira pseudonana
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:35128	"" []	195258	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Thalassiosira pseudonana
NCBITaxon:351534	\N	\N	"" []	NCBITaxon:351534	"" []	72221	\N	\N	ncbi_taxonomy	0	EFO	Ptomaphagus	Ptomaphagus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:351534	"" []	195259	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Ptomaphagus
NCBITaxon:3517	\N	\N	"" []	NCBITaxon:3517	"" []	72222	\N	\N	ncbi_taxonomy	0	EFO	Alnus glutinosa	Alnus glutinosa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3517	"" []	195260	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Alnus glutinosa
NCBITaxon:352164	\N	\N	"" []	NCBITaxon:352164	"" []	72223	\N	\N	ncbi_taxonomy	0	EFO	Sphingomonas sp. NM05	Sphingomonas sp. NM05
NCBITaxon:2	NCBITaxon:352164	\N	"" []	NCBITaxon:352164	"" []	225850	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Sphingomonas sp. NM05
NCBITaxon:3522	\N	\N	"" []	NCBITaxon:3522	"" []	72224	\N	\N	ncbi_taxonomy	0	EFO	Casuarina glauca	Casuarina glauca
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3522	"" []	195261	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Casuarina glauca
NCBITaxon:352374	\N	\N	"" []	NCBITaxon:352374	"" []	72225	\N	\N	ncbi_taxonomy	0	EFO	Populus fremontii x Populus angustifolia	Populus fremontii x Populus angustifolia
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:352374	"" []	195262	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus fremontii x Populus angustifolia
NCBITaxon:35305	\N	\N	"" []	NCBITaxon:35305	"" []	72226	\N	\N	ncbi_taxonomy	0	EFO	California encephalitis virus	California encephalitis virus
NCBITaxon:10239	NCBITaxon:35305	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:35305	"" []	225851	\N	\N	ncbi_taxonomy	1	EFO	Virus	California encephalitis virus
NCBITaxon:35328	\N	\N	"" []	NCBITaxon:35328	"" []	72227	\N	\N	ncbi_taxonomy	0	EFO	Bluetongue virus 2	Bluetongue virus 2
NCBITaxon:10239	NCBITaxon:35328	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:35328	"" []	225852	\N	\N	ncbi_taxonomy	1	EFO	Virus	Bluetongue virus 2
NCBITaxon:354242	\N	\N	"" []	NCBITaxon:354242	"" []	72228	\N	\N	ncbi_taxonomy	0	EFO	Campylobacter jejuni subsp. jejuni 81-176	Campylobacter jejuni subsp. jejuni 81-176
NCBITaxon:2	NCBITaxon:354242	\N	"" []	NCBITaxon:354242	"" []	225853	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Campylobacter jejuni subsp. jejuni 81-176
NCBITaxon:35523	\N	\N	"" []	NCBITaxon:35523	"" []	72229	\N	\N	ncbi_taxonomy	0	EFO	Daphnia pulicaria	Daphnia pulicaria
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:35523	"" []	195263	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Daphnia pulicaria
NCBITaxon:35525	\N	\N	"" []	NCBITaxon:35525	"" []	72230	\N	\N	ncbi_taxonomy	0	EFO	Daphnia magna	Daphnia magna
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:35525	"" []	195264	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Daphnia magna
NCBITaxon:35554	\N	\N	"" []	NCBITaxon:35554	"" []	72231	\N	\N	ncbi_taxonomy	0	EFO	Geobacter sulfurreducens	Geobacter sulfurreducens
NCBITaxon:2	NCBITaxon:35554	\N	"" []	NCBITaxon:35554	"" []	225854	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Geobacter sulfurreducens
NCBITaxon:3562	\N	\N	"" []	NCBITaxon:3562	"" []	72232	\N	\N	ncbi_taxonomy	0	EFO	Spinacia oleracea	Spinacia oleracea
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3562	"" []	195265	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Spinacia oleracea
NCBITaxon:357	\N	\N	"" []	NCBITaxon:357	"" []	72233	\N	\N	ncbi_taxonomy	0	EFO	Agrobacterium	Agrobacterium
NCBITaxon:2	NCBITaxon:357	\N	"" []	NCBITaxon:357	"" []	225855	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Agrobacterium
NCBITaxon:35787	\N	\N	"" []	NCBITaxon:35787	"" []	72234	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus pontis	Lactobacillus pontis
NCBITaxon:2	NCBITaxon:35787	\N	"" []	NCBITaxon:35787	"" []	225856	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus pontis
NCBITaxon:358	\N	\N	"" []	NCBITaxon:358	"" []	72235	\N	\N	ncbi_taxonomy	0	EFO	Agrobacterium tumefaciens	Agrobacterium tumefaciens
NCBITaxon:2	NCBITaxon:358	\N	"" []	NCBITaxon:358	"" []	225857	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Agrobacterium tumefaciens
NCBITaxon:35814	\N	\N	"" []	NCBITaxon:35814	"" []	72236	\N	\N	ncbi_taxonomy	0	EFO	Bordetella holmesii	Bordetella holmesii
NCBITaxon:2	NCBITaxon:35814	\N	"" []	NCBITaxon:35814	"" []	225858	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bordetella holmesii
NCBITaxon:358574	\N	\N	"" []	NCBITaxon:358574	"" []	72237	\N	\N	ncbi_taxonomy	0	EFO	uncultured microorganism	uncultured microorganism
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:358574	"" []	195266	\N	\N	ncbi_taxonomy	0	EFO	organism	uncultured microorganism
NCBITaxon:359986	\N	\N	"" []	NCBITaxon:359986	"" []	72238	\N	\N	ncbi_taxonomy	0	EFO	Lagopus lagopus scotica	Lagopus lagopus scotica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:359986	"" []	195267	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Lagopus lagopus scotica
NCBITaxon:360094	\N	\N	"" []	NCBITaxon:360094	"" []	72239	\N	\N	ncbi_taxonomy	0	EFO	Xanthomonas oryzae pv. oryzae PXO99A	Xanthomonas oryzae pv. oryzae PXO99A
NCBITaxon:2	NCBITaxon:360094	\N	"" []	NCBITaxon:360094	"" []	225859	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Xanthomonas oryzae pv. oryzae PXO99A
NCBITaxon:3605	\N	\N	"" []	NCBITaxon:3605	"" []	72240	\N	\N	ncbi_taxonomy	0	EFO	Vitis aestivalis	Vitis aestivalis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3605	"" []	195268	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Vitis aestivalis
NCBITaxon:36080	\N	\N	"" []	NCBITaxon:36080	"" []	72241	\N	\N	ncbi_taxonomy	0	EFO	Mucor circinelloides	Mucor circinelloides
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:36080	"" []	195269	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Mucor circinelloides
NCBITaxon:360807	\N	\N	"" []	NCBITaxon:360807	"" []	72242	\N	\N	ncbi_taxonomy	0	EFO	Roseburia inulinivorans	Roseburia inulinivorans
NCBITaxon:2	NCBITaxon:360807	\N	"" []	NCBITaxon:360807	"" []	225860	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Roseburia inulinivorans
NCBITaxon:36090	\N	\N	"" []	NCBITaxon:36090	"" []	72243	\N	\N	ncbi_taxonomy	0	EFO	Globodera pallida	Globodera pallida
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:36090	"" []	195270	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Globodera pallida
NCBITaxon:36247	\N	\N	"" []	NCBITaxon:36247	"" []	72245	\N	\N	ncbi_taxonomy	0	EFO	Gyps fulvus	Gyps fulvus
NCBITaxon:8965	NCBITaxon:36247	\N	"" []	NCBITaxon:36247	"" []	225861	\N	\N	ncbi_taxonomy	1	EFO	Gyps	Gyps fulvus
NCBITaxon:36329	\N	\N	"" []	NCBITaxon:36329	"" []	72246	\N	\N	ncbi_taxonomy	0	EFO	Plasmodium falciparum 3D7	Plasmodium falciparum 3D7
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:36329	"" []	195271	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Plasmodium falciparum 3D7
NCBITaxon:3634	\N	\N	"" []	NCBITaxon:3634	"" []	72247	\N	\N	ncbi_taxonomy	0	EFO	Gossypium barbadense	Gossypium barbadense
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3634	"" []	195272	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Gossypium barbadense
NCBITaxon:3635	\N	\N	"" []	NCBITaxon:3635	"" []	72248	\N	\N	ncbi_taxonomy	0	EFO	Gossypium hirsutum	Gossypium hirsutum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3635	"" []	195273	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Gossypium hirsutum
NCBITaxon:3641	\N	\N	"" []	NCBITaxon:3641	"" []	72249	\N	\N	ncbi_taxonomy	0	EFO	Theobroma cacao	Theobroma cacao
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3641	"" []	195274	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Theobroma cacao
NCBITaxon:364106	\N	\N	"" []	NCBITaxon:364106	"" []	72250	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli UTI89	Escherichia coli UTI89
NCBITaxon:2	NCBITaxon:364106	\N	"" []	NCBITaxon:364106	"" []	225862	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli UTI89
NCBITaxon:364410	\N	\N	"" []	NCBITaxon:364410	"" []	72251	\N	\N	ncbi_taxonomy	0	EFO	Granulibacter bethesdensis	Granulibacter bethesdensis
NCBITaxon:2	NCBITaxon:364410	\N	"" []	NCBITaxon:364410	"" []	225863	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Granulibacter bethesdensis
NCBITaxon:36470	\N	\N	"" []	NCBITaxon:36470	"" []	72252	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus sp. 'group A'	Streptococcus sp. 'group A'
NCBITaxon:2	NCBITaxon:36470	\N	"" []	NCBITaxon:36470	"" []	225864	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus sp. 'group A'
NCBITaxon:3649	\N	\N	"" []	NCBITaxon:3649	"" []	72253	\N	\N	ncbi_taxonomy	0	EFO	Carica papaya	Carica papaya
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3649	"" []	195275	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Carica papaya
NCBITaxon:3654	\N	\N	"" []	NCBITaxon:3654	"" []	72254	\N	\N	ncbi_taxonomy	0	EFO	Citrullus lanatus	Citrullus lanatus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3654	"" []	195276	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Citrullus lanatus
NCBITaxon:3656	\N	\N	"" []	NCBITaxon:3656	"" []	72255	\N	\N	ncbi_taxonomy	0	EFO	Cucumis melo	Cucumis melo
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3656	"" []	195277	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Cucumis melo
NCBITaxon:3659	\N	\N	"" []	NCBITaxon:3659	"" []	72256	\N	\N	ncbi_taxonomy	0	EFO	Cucumis sativus	Cucumis sativus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3659	"" []	195278	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Cucumis sativus
NCBITaxon:3661	\N	\N	"" []	NCBITaxon:3661	"" []	72257	\N	\N	ncbi_taxonomy	0	EFO	Cucurbita maxima	Cucurbita maxima
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3661	"" []	195279	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Cucurbita maxima
NCBITaxon:36630	\N	\N	"" []	NCBITaxon:36630	"" []	72258	\N	\N	ncbi_taxonomy	0	EFO	Neosartorya fischeri	Neosartorya fischeri
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:36630	"" []	195280	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Neosartorya fischeri
NCBITaxon:367830	\N	\N	"" []	NCBITaxon:367830	"" []	72259	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus aureus subsp. aureus USA300	Staphylococcus aureus subsp. aureus USA300
NCBITaxon:2	NCBITaxon:367830	\N	"" []	NCBITaxon:367830	"" []	225865	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus aureus subsp. aureus USA300
NCBITaxon:3689	\N	\N	"" []	NCBITaxon:3689	"" []	72260	\N	\N	ncbi_taxonomy	0	EFO	Populus	Populus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3689	"" []	195281	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus
NCBITaxon:3691	\N	\N	"" []	NCBITaxon:3691	"" []	72261	\N	\N	ncbi_taxonomy	0	EFO	Populus nigra	Populus nigra
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3691	"" []	195282	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus nigra
NCBITaxon:3693	\N	\N	"" []	NCBITaxon:3693	"" []	72262	\N	\N	ncbi_taxonomy	0	EFO	Populus tremuloides	Populus tremuloides
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3693	"" []	195283	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus tremuloides
NCBITaxon:3694	\N	\N	"" []	NCBITaxon:3694	"" []	72263	\N	\N	ncbi_taxonomy	0	EFO	Populus trichocarpa	Populus trichocarpa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3694	"" []	195284	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus trichocarpa
NCBITaxon:3695	\N	\N	"" []	NCBITaxon:3695	"" []	72264	\N	\N	ncbi_taxonomy	0	EFO	Populus trichocarpa x Populus deltoides	Populus trichocarpa x Populus deltoides
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3695	"" []	195285	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus trichocarpa x Populus deltoides
NCBITaxon:3696	\N	\N	"" []	NCBITaxon:3696	"" []	72265	\N	\N	ncbi_taxonomy	0	EFO	Populus deltoides	Populus deltoides
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3696	"" []	195286	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus deltoides
NCBITaxon:3701	\N	\N	"" []	NCBITaxon:3701	"" []	72266	\N	\N	ncbi_taxonomy	0	EFO	Arabidopsis	Arabidopsis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3701	"" []	195287	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Arabidopsis
NCBITaxon:37011	\N	\N	"" []	NCBITaxon:37011	"" []	72267	\N	\N	ncbi_taxonomy	0	EFO	Pan troglodytes troglodytes	Pan troglodytes troglodytes
NCBITaxon:9598	NCBITaxon:37011	\N	"" []	NCBITaxon:37011	"" []	225866	\N	\N	ncbi_taxonomy	1	EFO	Pan troglodytes	Pan troglodytes troglodytes
NCBITaxon:3702	\N	\N	"" []	NCBITaxon:3702	"" []	72268	\N	\N	ncbi_taxonomy	0	EFO	Arabidopsis thaliana	Arabidopsis thaliana
NCBITaxon:3701	NCBITaxon:3702	\N	"" []	NCBITaxon:3702	"" []	225867	\N	\N	ncbi_taxonomy	1	EFO	Arabidopsis	Arabidopsis thaliana
NCBITaxon:3707	\N	\N	"" []	NCBITaxon:3707	"" []	72269	\N	\N	ncbi_taxonomy	0	EFO	Brassica juncea	Brassica juncea
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3707	"" []	195288	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Brassica juncea
NCBITaxon:3708	\N	\N	"" []	NCBITaxon:3708	"" []	72270	\N	\N	ncbi_taxonomy	0	EFO	Brassica napus	Brassica napus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3708	"" []	195289	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Brassica napus
NCBITaxon:37099	\N	\N	"" []	NCBITaxon:37099	"" []	72271	\N	\N	ncbi_taxonomy	0	EFO	Isochrysis galbana	Isochrysis galbana
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:37099	"" []	195290	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Isochrysis galbana
NCBITaxon:3711	\N	\N	"" []	NCBITaxon:3711	"" []	72272	\N	\N	ncbi_taxonomy	0	EFO	Brassica rapa	Brassica rapa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3711	"" []	195291	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Brassica rapa
NCBITaxon:3712	\N	\N	"" []	NCBITaxon:3712	"" []	72273	\N	\N	ncbi_taxonomy	0	EFO	Brassica oleracea	Brassica oleracea
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3712	"" []	195292	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Brassica oleracea
NCBITaxon:3719	\N	\N	"" []	NCBITaxon:3719	"" []	72275	\N	\N	ncbi_taxonomy	0	EFO	Capsella bursa-pastoris	Capsella bursa-pastoris
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3719	"" []	195294	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Capsella bursa-pastoris
NCBITaxon:3724	\N	\N	"" []	NCBITaxon:3724	"" []	72276	\N	\N	ncbi_taxonomy	0	EFO	Matthiola incana	Matthiola incana
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3724	"" []	195295	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Matthiola incana
NCBITaxon:37296	\N	\N	"" []	NCBITaxon:37296	"" []	72277	\N	\N	ncbi_taxonomy	0	EFO	Human herpesvirus 8	Human herpesvirus 8
NCBITaxon:10239	NCBITaxon:37296	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:37296	"" []	225868	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human herpesvirus 8
NCBITaxon:373101	\N	\N	"" []	NCBITaxon:373101	"" []	72278	\N	\N	ncbi_taxonomy	0	EFO	Picea engelmannii x Picea glauca	Picea engelmannii x Picea glauca
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:373101	"" []	195296	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Picea engelmannii x Picea glauca
NCBITaxon:373153	\N	\N	"" []	NCBITaxon:373153	"" []	72279	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus pneumoniae D39	Streptococcus pneumoniae D39
NCBITaxon:2	NCBITaxon:373153	\N	"" []	NCBITaxon:373153	"" []	225869	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus pneumoniae D39
NCBITaxon:3747	\N	\N	"" []	NCBITaxon:3747	"" []	72280	\N	\N	ncbi_taxonomy	0	EFO	Fragaria x ananassa	Fragaria x ananassa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3747	"" []	195297	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Fragaria x ananassa
NCBITaxon:37495	\N	\N	"" []	NCBITaxon:37495	"" []	72281	\N	\N	ncbi_taxonomy	0	EFO	Euphorbia pulcherrima	Euphorbia pulcherrima
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:37495	"" []	195298	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Euphorbia pulcherrima
NCBITaxon:375	\N	\N	"" []	NCBITaxon:375	"" []	72282	\N	\N	ncbi_taxonomy	0	EFO	Bradyrhizobium japonicum	Bradyrhizobium japonicum
NCBITaxon:2	NCBITaxon:375	\N	"" []	NCBITaxon:375	"" []	225870	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bradyrhizobium japonicum
NCBITaxon:3750	\N	\N	"" []	NCBITaxon:3750	"" []	72283	\N	\N	ncbi_taxonomy	0	EFO	Malus x domestica	Malus x domestica
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3750	"" []	195299	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Malus x domestica
NCBITaxon:375033	\N	\N	"" []	NCBITaxon:375033	"" []	72284	\N	\N	ncbi_taxonomy	0	EFO	Synechococcus phage S-IO9	Synechococcus phage S-IO9
NCBITaxon:10239	NCBITaxon:375033	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:375033	"" []	225871	\N	\N	ncbi_taxonomy	1	EFO	Virus	Synechococcus phage S-IO9
NCBITaxon:375050	\N	\N	"" []	NCBITaxon:375050	"" []	72285	\N	\N	ncbi_taxonomy	0	EFO	Synechococcus phage S-IO17	Synechococcus phage S-IO17
NCBITaxon:10239	NCBITaxon:375050	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:375050	"" []	225872	\N	\N	ncbi_taxonomy	1	EFO	Virus	Synechococcus phage S-IO17
NCBITaxon:375052	\N	\N	"" []	NCBITaxon:375052	"" []	72286	\N	\N	ncbi_taxonomy	0	EFO	Synechococcus phage S-IO21	Synechococcus phage S-IO21
NCBITaxon:10239	NCBITaxon:375052	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:375052	"" []	225873	\N	\N	ncbi_taxonomy	1	EFO	Virus	Synechococcus phage S-IO21
NCBITaxon:375288	\N	\N	"" []	NCBITaxon:375288	"" []	72287	\N	\N	ncbi_taxonomy	0	EFO	Parabacteroides	Parabacteroides
NCBITaxon:2	NCBITaxon:375288	\N	"" []	NCBITaxon:375288	"" []	225874	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Parabacteroides
NCBITaxon:3760	\N	\N	"" []	NCBITaxon:3760	"" []	72288	\N	\N	ncbi_taxonomy	0	EFO	Prunus persica	Prunus persica
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3760	"" []	195300	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Prunus persica
NCBITaxon:37657	\N	\N	"" []	NCBITaxon:37657	"" []	72289	\N	\N	ncbi_taxonomy	0	EFO	Silene latifolia	Silene latifolia
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:37657	"" []	195301	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Silene latifolia
NCBITaxon:376619	\N	\N	"" []	NCBITaxon:376619	"" []	72290	\N	\N	ncbi_taxonomy	0	EFO	Francisella tularensis subsp. holarctica LVS	Francisella tularensis subsp. holarctica LVS
NCBITaxon:2	NCBITaxon:376619	\N	"" []	NCBITaxon:376619	"" []	225875	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Francisella tularensis subsp. holarctica LVS
NCBITaxon:3767	\N	\N	"" []	NCBITaxon:3767	"" []	72291	\N	\N	ncbi_taxonomy	0	EFO	Pyrus pyrifolia	Pyrus pyrifolia
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3767	"" []	195302	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pyrus pyrifolia
NCBITaxon:37682	\N	\N	"" []	NCBITaxon:37682	"" []	72292	\N	\N	ncbi_taxonomy	0	EFO	Aegilops tauschii	Aegilops tauschii
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:37682	"" []	195303	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Aegilops tauschii
NCBITaxon:37690	\N	\N	"" []	NCBITaxon:37690	"" []	72293	\N	\N	ncbi_taxonomy	0	EFO	Citrus trifoliata	Citrus trifoliata
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:37690	"" []	195304	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Citrus trifoliata
NCBITaxon:377270	\N	\N	"" []	NCBITaxon:377270	"" []	72294	\N	\N	ncbi_taxonomy	0	EFO	Anopheles gambiae S	Anopheles gambiae S
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:377270	"" []	195305	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Anopheles gambiae S
NCBITaxon:37733	\N	\N	"" []	NCBITaxon:37733	"" []	72295	\N	\N	ncbi_taxonomy	0	EFO	Prunus necrotic ringspot virus	Prunus necrotic ringspot virus
NCBITaxon:10239	NCBITaxon:37733	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:37733	"" []	225876	\N	\N	ncbi_taxonomy	1	EFO	Virus	Prunus necrotic ringspot virus
NCBITaxon:37734	\N	\N	"" []	NCBITaxon:37734	"" []	72296	\N	\N	ncbi_taxonomy	0	EFO	Enterococcus casseliflavus	Enterococcus casseliflavus
NCBITaxon:2	NCBITaxon:37734	\N	"" []	NCBITaxon:37734	"" []	225877	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Enterococcus casseliflavus
NCBITaxon:37762	\N	\N	"" []	NCBITaxon:37762	"" []	72297	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli B	Escherichia coli B
NCBITaxon:2	NCBITaxon:37762	\N	"" []	NCBITaxon:37762	"" []	225878	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli B
NCBITaxon:378006	\N	\N	"" []	NCBITaxon:378006	"" []	72298	\N	\N	ncbi_taxonomy	0	EFO	Arabidopsis arenosa x Arabidopsis thaliana	Arabidopsis arenosa x Arabidopsis thaliana
NCBITaxon:3701	NCBITaxon:378006	\N	"" []	NCBITaxon:378006	"" []	225879	\N	\N	ncbi_taxonomy	1	EFO	Arabidopsis	Arabidopsis arenosa x Arabidopsis thaliana
NCBITaxon:37862	\N	\N	"" []	NCBITaxon:37862	"" []	72299	\N	\N	ncbi_taxonomy	0	EFO	Heterorhabditis bacteriophora	Heterorhabditis bacteriophora
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:37862	"" []	195306	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Heterorhabditis bacteriophora
NCBITaxon:378830	\N	\N	"" []	NCBITaxon:378830	"" []	72300	\N	\N	ncbi_taxonomy	0	EFO	Lake Victoria marburgvirus - Angola2005	Lake Victoria marburgvirus - Angola2005
NCBITaxon:10239	NCBITaxon:378830	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:378830	"" []	225880	\N	\N	ncbi_taxonomy	1	EFO	Virus	Lake Victoria marburgvirus - Angola2005
NCBITaxon:379508	\N	\N	"" []	NCBITaxon:379508	"" []	72301	\N	\N	ncbi_taxonomy	0	EFO	Lodderomyces elongisporus NRRL YB-4239	Lodderomyces elongisporus NRRL YB-4239
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:379508	"" []	195307	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Lodderomyces elongisporus NRRL YB-4239
NCBITaxon:379731	\N	\N	"" []	NCBITaxon:379731	"" []	72302	\N	\N	ncbi_taxonomy	0	EFO	Pseudomonas stutzeri A1501	Pseudomonas stutzeri A1501
NCBITaxon:2	NCBITaxon:379731	\N	"" []	NCBITaxon:379731	"" []	225881	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pseudomonas stutzeri A1501
NCBITaxon:380737	\N	\N	"" []	NCBITaxon:380737	"" []	72303	\N	\N	ncbi_taxonomy	0	EFO	Drosophila sechellia x Drosophila simulans	Drosophila sechellia x Drosophila simulans
NCBITaxon:7215	NCBITaxon:380737	\N	"" []	NCBITaxon:380737	"" []	225882	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila sechellia x Drosophila simulans
NCBITaxon:380964	\N	\N	"" []	NCBITaxon:380964	"" []	72304	\N	\N	ncbi_taxonomy	0	EFO	Influenza A virus (A/Texas/36/1991(H1N1))	Influenza A virus (A/Texas/36/1991(H1N1))
NCBITaxon:10239	NCBITaxon:380964	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:380964	"" []	225883	\N	\N	ncbi_taxonomy	1	EFO	Virus	Influenza A virus (A/Texas/36/1991(H1N1))
NCBITaxon:381124	\N	\N	"" []	NCBITaxon:381124	"" []	72305	\N	\N	ncbi_taxonomy	0	EFO	Zea mays subsp. mays	Zea mays subsp. mays
NCBITaxon:4577	NCBITaxon:381124	\N	"" []	NCBITaxon:381124	"" []	225884	\N	\N	ncbi_taxonomy	1	EFO	Zea mays	Zea mays subsp. mays
NCBITaxon:381666	\N	\N	"" []	NCBITaxon:381666	"" []	72306	\N	\N	ncbi_taxonomy	0	EFO	Ralstonia eutropha H16	Ralstonia eutropha H16
NCBITaxon:2	NCBITaxon:381666	\N	"" []	NCBITaxon:381666	"" []	225885	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ralstonia eutropha H16
NCBITaxon:3818	\N	\N	"" []	NCBITaxon:3818	"" []	72307	\N	\N	ncbi_taxonomy	0	EFO	Arachis hypogaea	Arachis hypogaea
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3818	"" []	195308	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Arachis hypogaea
NCBITaxon:382	\N	\N	"" []	NCBITaxon:382	"" []	72308	\N	\N	ncbi_taxonomy	0	EFO	Sinorhizobium meliloti	Sinorhizobium meliloti
NCBITaxon:2	NCBITaxon:382	\N	"" []	NCBITaxon:382	"" []	225886	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Sinorhizobium meliloti
NCBITaxon:382539	\N	\N	"" []	NCBITaxon:382539	"" []	72309	\N	\N	ncbi_taxonomy	0	EFO	Strelkovimermis	Strelkovimermis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:382539	"" []	195309	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Strelkovimermis
NCBITaxon:38289	\N	\N	"" []	NCBITaxon:38289	"" []	72310	\N	\N	ncbi_taxonomy	0	EFO	Corynebacterium jeikeium	Corynebacterium jeikeium
NCBITaxon:2	NCBITaxon:38289	\N	"" []	NCBITaxon:38289	"" []	225887	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Corynebacterium jeikeium
NCBITaxon:38323	\N	\N	"" []	NCBITaxon:38323	"" []	72311	\N	\N	ncbi_taxonomy	0	EFO	Bartonella henselae	Bartonella henselae
NCBITaxon:2	NCBITaxon:38323	\N	"" []	NCBITaxon:38323	"" []	225888	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bartonella henselae
NCBITaxon:383407	\N	\N	"" []	NCBITaxon:383407	"" []	72312	\N	\N	ncbi_taxonomy	0	EFO	Xanthomonas oryzae pv. oryzicola BLS256	Xanthomonas oryzae pv. oryzicola BLS256
NCBITaxon:2	NCBITaxon:383407	\N	"" []	NCBITaxon:383407	"" []	225889	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Xanthomonas oryzae pv. oryzicola BLS256
NCBITaxon:384	\N	\N	"" []	NCBITaxon:384	"" []	72313	\N	\N	ncbi_taxonomy	0	EFO	Rhizobium leguminosarum	Rhizobium leguminosarum
NCBITaxon:2	NCBITaxon:384	\N	"" []	NCBITaxon:384	"" []	225890	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rhizobium leguminosarum
NCBITaxon:3847	\N	\N	"" []	NCBITaxon:3847	"" []	72314	\N	\N	ncbi_taxonomy	0	EFO	Glycine max	Glycine max
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3847	"" []	195310	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Glycine max
NCBITaxon:3848	\N	\N	"" []	NCBITaxon:3848	"" []	72315	\N	\N	ncbi_taxonomy	0	EFO	Glycine soja	Glycine soja
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3848	"" []	195311	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Glycine soja
NCBITaxon:38588	\N	\N	"" []	NCBITaxon:38588	"" []	72316	\N	\N	ncbi_taxonomy	0	EFO	Syntrichia ruralis	Syntrichia ruralis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:38588	"" []	195312	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Syntrichia ruralis
NCBITaxon:386585	\N	\N	"" []	NCBITaxon:386585	"" []	72317	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli O157:H7 str. Sakai	Escherichia coli O157:H7 str. Sakai
NCBITaxon:2	NCBITaxon:386585	\N	"" []	NCBITaxon:386585	"" []	225891	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli O157:H7 str. Sakai
NCBITaxon:38727	\N	\N	"" []	NCBITaxon:38727	"" []	72318	\N	\N	ncbi_taxonomy	0	EFO	Panicum virgatum	Panicum virgatum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:38727	"" []	195313	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Panicum virgatum
NCBITaxon:38766	\N	\N	"" []	NCBITaxon:38766	"" []	72319	\N	\N	ncbi_taxonomy	0	EFO	Lagos bat virus	Lagos bat virus
NCBITaxon:10239	NCBITaxon:38766	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:38766	"" []	225892	\N	\N	ncbi_taxonomy	1	EFO	Virus	Lagos bat virus
NCBITaxon:38767	\N	\N	"" []	NCBITaxon:38767	"" []	72320	\N	\N	ncbi_taxonomy	0	EFO	Duvenhage virus	Duvenhage virus
NCBITaxon:10239	NCBITaxon:38767	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:38767	"" []	225893	\N	\N	ncbi_taxonomy	1	EFO	Virus	Duvenhage virus
NCBITaxon:38785	\N	\N	"" []	NCBITaxon:38785	"" []	72321	\N	\N	ncbi_taxonomy	0	EFO	Arabidopsis arenosa	Arabidopsis arenosa
NCBITaxon:3701	NCBITaxon:38785	\N	"" []	NCBITaxon:38785	"" []	225894	\N	\N	ncbi_taxonomy	1	EFO	Arabidopsis	Arabidopsis arenosa
NCBITaxon:3879	\N	\N	"" []	NCBITaxon:3879	"" []	72322	\N	\N	ncbi_taxonomy	0	EFO	Medicago sativa	Medicago sativa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3879	"" []	195314	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Medicago sativa
NCBITaxon:3880	\N	\N	"" []	NCBITaxon:3880	"" []	72323	\N	\N	ncbi_taxonomy	0	EFO	Medicago truncatula	Medicago truncatula
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3880	"" []	195315	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Medicago truncatula
NCBITaxon:38817	\N	\N	"" []	NCBITaxon:38817	"" []	72324	\N	\N	ncbi_taxonomy	0	EFO	Gephyrocapsa oceanica	Gephyrocapsa oceanica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:38817	"" []	195316	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Gephyrocapsa oceanica
NCBITaxon:3885	\N	\N	"" []	NCBITaxon:3885	"" []	72325	\N	\N	ncbi_taxonomy	0	EFO	Phaseolus vulgaris	Phaseolus vulgaris
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3885	"" []	195317	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Phaseolus vulgaris
NCBITaxon:3886	\N	\N	"" []	NCBITaxon:3886	"" []	72326	\N	\N	ncbi_taxonomy	0	EFO	Phaseolus coccineus	Phaseolus coccineus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3886	"" []	195318	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Phaseolus coccineus
NCBITaxon:3888	\N	\N	"" []	NCBITaxon:3888	"" []	72327	\N	\N	ncbi_taxonomy	0	EFO	Pisum sativum	Pisum sativum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3888	"" []	195319	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pisum sativum
NCBITaxon:388919	\N	\N	"" []	NCBITaxon:388919	"" []	72328	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus sanguinis SK36	Streptococcus sanguinis SK36
NCBITaxon:2	NCBITaxon:388919	\N	"" []	NCBITaxon:388919	"" []	225895	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus sanguinis SK36
NCBITaxon:3899	\N	\N	"" []	NCBITaxon:3899	"" []	72329	\N	\N	ncbi_taxonomy	0	EFO	Trifolium repens	Trifolium repens
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3899	"" []	195320	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Trifolium repens
NCBITaxon:39099	\N	\N	"" []	NCBITaxon:39099	"" []	72330	\N	\N	ncbi_taxonomy	0	EFO	Pantherophis obsoletus	Pantherophis obsoletus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:39099	"" []	195321	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pantherophis obsoletus
NCBITaxon:3912	\N	\N	"" []	NCBITaxon:3912	"" []	72331	\N	\N	ncbi_taxonomy	0	EFO	Vicia narbonensis	Vicia narbonensis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3912	"" []	195322	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Vicia narbonensis
NCBITaxon:391290	\N	\N	"" []	NCBITaxon:391290	"" []	72332	\N	\N	ncbi_taxonomy	0	EFO	Geobacillus sp. E263	Geobacillus sp. E263
NCBITaxon:2	NCBITaxon:391290	\N	"" []	NCBITaxon:391290	"" []	225896	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Geobacillus sp. E263
NCBITaxon:391295	\N	\N	"" []	NCBITaxon:391295	"" []	72333	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus suis 05ZYH33	Streptococcus suis 05ZYH33
NCBITaxon:2	NCBITaxon:391295	\N	"" []	NCBITaxon:391295	"" []	225897	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus suis 05ZYH33
NCBITaxon:39152	\N	\N	"" []	NCBITaxon:39152	"" []	72334	\N	\N	ncbi_taxonomy	0	EFO	Methanococcus maripaludis	Methanococcus maripaludis
NCBITaxon:2157	NCBITaxon:39152	\N	"" []	NCBITaxon:39152	"" []	225898	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Methanococcus maripaludis
NCBITaxon:3917	\N	\N	"" []	NCBITaxon:3917	"" []	72335	\N	\N	ncbi_taxonomy	0	EFO	Vigna unguiculata	Vigna unguiculata
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3917	"" []	195323	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Vigna unguiculata
NCBITaxon:3920	\N	\N	"" []	NCBITaxon:3920	"" []	72336	\N	\N	ncbi_taxonomy	0	EFO	Vigna unguiculata subsp. unguiculata	Vigna unguiculata subsp. unguiculata
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3920	"" []	195324	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Vigna unguiculata subsp. unguiculata
NCBITaxon:392499	\N	\N	"" []	NCBITaxon:392499	"" []	72337	\N	\N	ncbi_taxonomy	0	EFO	Sphingomonas wittichii RW1	Sphingomonas wittichii RW1
NCBITaxon:2	NCBITaxon:392499	\N	"" []	NCBITaxon:392499	"" []	225899	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Sphingomonas wittichii RW1
NCBITaxon:39291	\N	\N	"" []	NCBITaxon:39291	"" []	72338	\N	\N	ncbi_taxonomy	0	EFO	Athelia rolfsii	Athelia rolfsii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:39291	"" []	195325	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Athelia rolfsii
NCBITaxon:393119	\N	\N	"" []	NCBITaxon:393119	"" []	72339	\N	\N	ncbi_taxonomy	0	EFO	Listeria monocytogenes FSL J1-208	Listeria monocytogenes FSL J1-208
NCBITaxon:2	NCBITaxon:393119	\N	"" []	NCBITaxon:393119	"" []	225900	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Listeria monocytogenes FSL J1-208
NCBITaxon:393121	\N	\N	"" []	NCBITaxon:393121	"" []	72340	\N	\N	ncbi_taxonomy	0	EFO	Listeria monocytogenes FSL J2-071	Listeria monocytogenes FSL J2-071
NCBITaxon:2	NCBITaxon:393121	\N	"" []	NCBITaxon:393121	"" []	225901	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Listeria monocytogenes FSL J2-071
NCBITaxon:393130	\N	\N	"" []	NCBITaxon:393130	"" []	72341	\N	\N	ncbi_taxonomy	0	EFO	Listeria monocytogenes J0161	Listeria monocytogenes J0161
NCBITaxon:2	NCBITaxon:393130	\N	"" []	NCBITaxon:393130	"" []	225902	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Listeria monocytogenes J0161
NCBITaxon:393133	\N	\N	"" []	NCBITaxon:393133	"" []	72342	\N	\N	ncbi_taxonomy	0	EFO	Listeria monocytogenes 10403S	Listeria monocytogenes 10403S
NCBITaxon:2	NCBITaxon:393133	\N	"" []	NCBITaxon:393133	"" []	225903	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Listeria monocytogenes 10403S
NCBITaxon:39416	\N	\N	"" []	NCBITaxon:39416	"" []	72343	\N	\N	ncbi_taxonomy	0	EFO	Tuber melanosporum	Tuber melanosporum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:39416	"" []	195326	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Tuber melanosporum
NCBITaxon:39442	\N	\N	"" []	NCBITaxon:39442	"" []	72344	\N	\N	ncbi_taxonomy	0	EFO	Mus musculus musculus	Mus musculus musculus
EFO:0003013	\N	\N	"" []	NCBITaxon:39442	"" []	195327	\N	\N	ncbi_taxonomy	0	EFO	Mus musculus subspecies	Mus musculus musculus
NCBITaxon:39491	\N	\N	"" []	NCBITaxon:39491	"" []	72345	\N	\N	ncbi_taxonomy	0	EFO	Eubacterium rectale	Eubacterium rectale
NCBITaxon:2	NCBITaxon:39491	\N	"" []	NCBITaxon:39491	"" []	225904	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Eubacterium rectale
NCBITaxon:39758	\N	\N	"" []	NCBITaxon:39758	"" []	72346	\N	\N	ncbi_taxonomy	0	EFO	Mayetiola destructor	Mayetiola destructor
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:39758	"" []	195328	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Mayetiola destructor
NCBITaxon:3983	\N	\N	"" []	NCBITaxon:3983	"" []	72347	\N	\N	ncbi_taxonomy	0	EFO	Manihot esculenta	Manihot esculenta
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3983	"" []	195329	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Manihot esculenta
NCBITaxon:398580	\N	\N	"" []	NCBITaxon:398580	"" []	72348	\N	\N	ncbi_taxonomy	0	EFO	Dinoroseobacter shibae DFL 12	Dinoroseobacter shibae DFL 12
NCBITaxon:2	NCBITaxon:398580	\N	"" []	NCBITaxon:398580	"" []	225905	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Dinoroseobacter shibae DFL 12
NCBITaxon:3988	\N	\N	"" []	NCBITaxon:3988	"" []	72349	\N	\N	ncbi_taxonomy	0	EFO	Ricinus communis	Ricinus communis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3988	"" []	195330	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Ricinus communis
NCBITaxon:3993	\N	\N	"" []	NCBITaxon:3993	"" []	72350	\N	\N	ncbi_taxonomy	0	EFO	Euphorbia esula	Euphorbia esula
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:3993	"" []	195331	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Euphorbia esula
NCBITaxon:39946	\N	\N	"" []	NCBITaxon:39946	"" []	72351	\N	\N	ncbi_taxonomy	0	EFO	Oryza sativa Indica Group	Oryza sativa Indica Group
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:39946	"" []	195332	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Oryza sativa Indica Group
NCBITaxon:39947	\N	\N	"" []	NCBITaxon:39947	"" []	72352	\N	\N	ncbi_taxonomy	0	EFO	Oryza sativa Japonica Group	Oryza sativa Japonica Group
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:39947	"" []	195333	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Oryza sativa Japonica Group
NCBITaxon:399726	\N	\N	"" []	NCBITaxon:399726	"" []	72353	\N	\N	ncbi_taxonomy	0	EFO	Thermoanaerobacter sp. X514	Thermoanaerobacter sp. X514
NCBITaxon:2	NCBITaxon:399726	\N	"" []	NCBITaxon:399726	"" []	225906	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Thermoanaerobacter sp. X514
NCBITaxon:39984	\N	\N	"" []	NCBITaxon:39984	"" []	72354	\N	\N	ncbi_taxonomy	0	EFO	Bruguiera gymnorhiza	Bruguiera gymnorhiza
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:39984	"" []	195334	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Bruguiera gymnorhiza
NCBITaxon:4006	\N	\N	"" []	NCBITaxon:4006	"" []	72355	\N	\N	ncbi_taxonomy	0	EFO	Linum usitatissimum	Linum usitatissimum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4006	"" []	195335	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Linum usitatissimum
NCBITaxon:400682	\N	\N	"" []	NCBITaxon:400682	"" []	72356	\N	\N	ncbi_taxonomy	0	EFO	Amphimedon queenslandica	Amphimedon queenslandica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:400682	"" []	195336	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Amphimedon queenslandica
NCBITaxon:40127	\N	\N	"" []	NCBITaxon:40127	"" []	72357	\N	\N	ncbi_taxonomy	0	EFO	Neurospora tetrasperma	Neurospora tetrasperma
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:40127	"" []	195337	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Neurospora tetrasperma
NCBITaxon:40199	\N	\N	"" []	NCBITaxon:40199	"" []	72358	\N	\N	ncbi_taxonomy	0	EFO	Fusarium avenaceum	Fusarium avenaceum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:40199	"" []	195338	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Fusarium avenaceum
NCBITaxon:40296	\N	\N	"" []	NCBITaxon:40296	"" []	72359	\N	\N	ncbi_taxonomy	0	EFO	Penicillium italicum	Penicillium italicum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:40296	"" []	195339	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Penicillium italicum
NCBITaxon:40324	\N	\N	"" []	NCBITaxon:40324	"" []	72360	\N	\N	ncbi_taxonomy	0	EFO	Stenotrophomonas maltophilia	Stenotrophomonas maltophilia
NCBITaxon:2	NCBITaxon:40324	\N	"" []	NCBITaxon:40324	"" []	225907	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Stenotrophomonas maltophilia
NCBITaxon:40370	\N	\N	"" []	NCBITaxon:40370	"" []	72361	\N	\N	ncbi_taxonomy	0	EFO	Drosophila montana	Drosophila montana
NCBITaxon:7215	NCBITaxon:40370	\N	"" []	NCBITaxon:40370	"" []	225908	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila montana
NCBITaxon:40410	\N	\N	"" []	NCBITaxon:40410	"" []	72362	\N	\N	ncbi_taxonomy	0	EFO	Cryptococcus neoformans var. neoformans	Cryptococcus neoformans var. neoformans
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:40410	"" []	195340	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cryptococcus neoformans var. neoformans
NCBITaxon:4054	\N	\N	"" []	NCBITaxon:4054	"" []	72363	\N	\N	ncbi_taxonomy	0	EFO	Panax ginseng	Panax ginseng
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4054	"" []	195341	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Panax ginseng
NCBITaxon:405531	\N	\N	"" []	NCBITaxon:405531	"" []	72364	\N	\N	ncbi_taxonomy	0	EFO	Bacillus cereus G9842	Bacillus cereus G9842
NCBITaxon:2	NCBITaxon:405531	\N	"" []	NCBITaxon:405531	"" []	225909	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacillus cereus G9842
NCBITaxon:405566	\N	\N	"" []	NCBITaxon:405566	"" []	72365	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus helveticus DPC 4571	Lactobacillus helveticus DPC 4571
NCBITaxon:2	NCBITaxon:405566	\N	"" []	NCBITaxon:405566	"" []	225910	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus helveticus DPC 4571
NCBITaxon:40686	\N	\N	"" []	NCBITaxon:40686	"" []	72367	\N	\N	ncbi_taxonomy	0	EFO	Salix viminalis	Salix viminalis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:40686	"" []	195342	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Salix viminalis
NCBITaxon:4072	\N	\N	"" []	NCBITaxon:4072	"" []	72368	\N	\N	ncbi_taxonomy	0	EFO	Capsicum annuum	Capsicum annuum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4072	"" []	195343	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Capsicum annuum
NCBITaxon:408	\N	\N	"" []	NCBITaxon:408	"" []	72369	\N	\N	ncbi_taxonomy	0	EFO	Methylobacterium extorquens	Methylobacterium extorquens
NCBITaxon:2	NCBITaxon:408	\N	"" []	NCBITaxon:408	"" []	225911	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Methylobacterium extorquens
NCBITaxon:4081	\N	\N	"" []	NCBITaxon:4081	"" []	72370	\N	\N	ncbi_taxonomy	0	EFO	Solanum lycopersicum	Solanum lycopersicum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4081	"" []	195344	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Solanum lycopersicum
NCBITaxon:408170	\N	\N	"" []	NCBITaxon:408170	"" []	72371	\N	\N	ncbi_taxonomy	0	EFO	human gut metagenome	human gut metagenome
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:408170	"" []	195345	\N	\N	ncbi_taxonomy	0	EFO	organism	human gut metagenome
NCBITaxon:408172	\N	\N	"" []	NCBITaxon:408172	"" []	72372	\N	\N	ncbi_taxonomy	0	EFO	marine metagenome	marine metagenome
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:408172	"" []	195346	\N	\N	ncbi_taxonomy	0	EFO	organism	marine metagenome
NCBITaxon:4084	\N	\N	"" []	NCBITaxon:4084	"" []	72373	\N	\N	ncbi_taxonomy	0	EFO	Solanum pimpinellifolium	Solanum pimpinellifolium
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4084	"" []	195347	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Solanum pimpinellifolium
NCBITaxon:4097	\N	\N	"" []	NCBITaxon:4097	"" []	72374	\N	\N	ncbi_taxonomy	0	EFO	Nicotiana tabacum	Nicotiana tabacum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4097	"" []	195348	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Nicotiana tabacum
NCBITaxon:40993	\N	\N	"" []	NCBITaxon:40993	"" []	72375	\N	\N	ncbi_taxonomy	0	EFO	Aspergillus carbonarius	Aspergillus carbonarius
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:40993	"" []	195349	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Aspergillus carbonarius
NCBITaxon:4100	\N	\N	"" []	NCBITaxon:4100	"" []	72376	\N	\N	ncbi_taxonomy	0	EFO	Nicotiana benthamiana	Nicotiana benthamiana
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4100	"" []	195350	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Nicotiana benthamiana
NCBITaxon:4102	\N	\N	"" []	NCBITaxon:4102	"" []	72377	\N	\N	ncbi_taxonomy	0	EFO	Petunia x hybrida	Petunia x hybrida
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4102	"" []	195351	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Petunia x hybrida
NCBITaxon:410289	\N	\N	"" []	NCBITaxon:410289	"" []	72378	\N	\N	ncbi_taxonomy	0	EFO	Mycobacterium bovis BCG str. Pasteur 1173P2	Mycobacterium bovis BCG str. Pasteur 1173P2
NCBITaxon:2	NCBITaxon:410289	\N	"" []	NCBITaxon:410289	"" []	225912	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycobacterium bovis BCG str. Pasteur 1173P2
NCBITaxon:41048	\N	\N	"" []	NCBITaxon:41048	"" []	72379	\N	\N	ncbi_taxonomy	0	EFO	Neosartorya fennelliae	Neosartorya fennelliae
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:41048	"" []	195352	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Neosartorya fennelliae
NCBITaxon:410658	\N	\N	"" []	NCBITaxon:410658	"" []	72380	\N	\N	ncbi_taxonomy	0	EFO	soil metagenome	soil metagenome
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:410658	"" []	195353	\N	\N	ncbi_taxonomy	0	EFO	organism	soil metagenome
NCBITaxon:4108	\N	\N	"" []	NCBITaxon:4108	"" []	72381	\N	\N	ncbi_taxonomy	0	EFO	Solanum chacoense	Solanum chacoense
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4108	"" []	195354	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Solanum chacoense
NCBITaxon:4113	\N	\N	"" []	NCBITaxon:4113	"" []	72382	\N	\N	ncbi_taxonomy	0	EFO	Solanum tuberosum	Solanum tuberosum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4113	"" []	195355	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Solanum tuberosum
NCBITaxon:4120	\N	\N	"" []	NCBITaxon:4120	"" []	72383	\N	\N	ncbi_taxonomy	0	EFO	Ipomoea batatas	Ipomoea batatas
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4120	"" []	195356	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Ipomoea batatas
NCBITaxon:412675	\N	\N	"" []	NCBITaxon:412675	"" []	72384	\N	\N	ncbi_taxonomy	0	EFO	Cucumis melo subsp. melo	Cucumis melo subsp. melo
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:412675	"" []	195357	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Cucumis melo subsp. melo
NCBITaxon:413496	\N	\N	"" []	NCBITaxon:413496	"" []	72385	\N	\N	ncbi_taxonomy	0	EFO	Cronobacter	Cronobacter
NCBITaxon:2	NCBITaxon:413496	\N	"" []	NCBITaxon:413496	"" []	225913	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Cronobacter
NCBITaxon:413497	\N	\N	"" []	NCBITaxon:413497	"" []	72386	\N	\N	ncbi_taxonomy	0	EFO	Cronobacter dublinensis	Cronobacter dublinensis
NCBITaxon:2	NCBITaxon:413497	\N	"" []	NCBITaxon:413497	"" []	225914	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Cronobacter dublinensis
NCBITaxon:413501	\N	\N	"" []	NCBITaxon:413501	"" []	72387	\N	\N	ncbi_taxonomy	0	EFO	Cronobacter muytjensii	Cronobacter muytjensii
NCBITaxon:2	NCBITaxon:413501	\N	"" []	NCBITaxon:413501	"" []	225915	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Cronobacter muytjensii
NCBITaxon:413502	\N	\N	"" []	NCBITaxon:413502	"" []	72388	\N	\N	ncbi_taxonomy	0	EFO	Cronobacter turicensis	Cronobacter turicensis
NCBITaxon:2	NCBITaxon:413502	\N	"" []	NCBITaxon:413502	"" []	225916	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Cronobacter turicensis
NCBITaxon:413888	\N	\N	"" []	NCBITaxon:413888	"" []	72389	\N	\N	ncbi_taxonomy	0	EFO	Caldicellulosiruptor hydrothermalis	Caldicellulosiruptor hydrothermalis
NCBITaxon:2	NCBITaxon:413888	\N	"" []	NCBITaxon:413888	"" []	225917	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Caldicellulosiruptor hydrothermalis
NCBITaxon:413997	\N	\N	"" []	NCBITaxon:413997	"" []	72390	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli B str. REL606	Escherichia coli B str. REL606
NCBITaxon:2	NCBITaxon:413997	\N	"" []	NCBITaxon:413997	"" []	225918	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli B str. REL606
NCBITaxon:413999	\N	\N	"" []	NCBITaxon:413999	"" []	72391	\N	\N	ncbi_taxonomy	0	EFO	Clostridium botulinum A str. ATCC 3502	Clostridium botulinum A str. ATCC 3502
NCBITaxon:2	NCBITaxon:413999	\N	"" []	NCBITaxon:413999	"" []	225919	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Clostridium botulinum A str. ATCC 3502
NCBITaxon:41411	\N	\N	"" []	NCBITaxon:41411	"" []	72392	\N	\N	ncbi_taxonomy	0	EFO	Eurotium chevalieri	Eurotium chevalieri
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:41411	"" []	195358	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Eurotium chevalieri
NCBITaxon:414717	\N	\N	"" []	NCBITaxon:414717	"" []	72393	\N	\N	ncbi_taxonomy	0	EFO	Pachycladon enysii	Pachycladon enysii
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:414717	"" []	195359	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pachycladon enysii
NCBITaxon:41529	\N	\N	"" []	NCBITaxon:41529	"" []	72394	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Typhisuis	Salmonella enterica subsp. enterica serovar Typhisuis
NCBITaxon:2	NCBITaxon:41529	\N	"" []	NCBITaxon:41529	"" []	225920	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Typhisuis
NCBITaxon:4155	\N	\N	"" []	NCBITaxon:4155	"" []	72395	\N	\N	ncbi_taxonomy	0	EFO	Mimulus guttatus	Mimulus guttatus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4155	"" []	195360	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Mimulus guttatus
NCBITaxon:416870	\N	\N	"" []	NCBITaxon:416870	"" []	72396	\N	\N	ncbi_taxonomy	0	EFO	Lactococcus lactis subsp. cremoris MG1363	Lactococcus lactis subsp. cremoris MG1363
NCBITaxon:2	NCBITaxon:416870	\N	"" []	NCBITaxon:416870	"" []	225921	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactococcus lactis subsp. cremoris MG1363
NCBITaxon:41759	\N	\N	"" []	NCBITaxon:41759	"" []	72397	\N	\N	ncbi_taxonomy	0	EFO	Aspergillus multicolor	Aspergillus multicolor
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:41759	"" []	195361	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Aspergillus multicolor
NCBITaxon:420247	\N	\N	"" []	NCBITaxon:420247	"" []	72398	\N	\N	ncbi_taxonomy	0	EFO	Methanobrevibacter smithii ATCC 35061	Methanobrevibacter smithii ATCC 35061
NCBITaxon:2157	NCBITaxon:420247	\N	"" []	NCBITaxon:420247	"" []	225922	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Methanobrevibacter smithii ATCC 35061
NCBITaxon:42156	\N	\N	"" []	NCBITaxon:42156	"" []	72399	\N	\N	ncbi_taxonomy	0	EFO	Litomosoides sigmodontis	Litomosoides sigmodontis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:42156	"" []	195362	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Litomosoides sigmodontis
NCBITaxon:4222	\N	\N	"" []	NCBITaxon:4222	"" []	72400	\N	\N	ncbi_taxonomy	0	EFO	Carthamus tinctorius	Carthamus tinctorius
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4222	"" []	195363	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Carthamus tinctorius
NCBITaxon:4232	\N	\N	"" []	NCBITaxon:4232	"" []	72401	\N	\N	ncbi_taxonomy	0	EFO	Helianthus annuus	Helianthus annuus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4232	"" []	195364	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Helianthus annuus
NCBITaxon:4236	\N	\N	"" []	NCBITaxon:4236	"" []	72402	\N	\N	ncbi_taxonomy	0	EFO	Lactuca sativa	Lactuca sativa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4236	"" []	195365	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Lactuca sativa
NCBITaxon:42374	\N	\N	"" []	NCBITaxon:42374	"" []	72403	\N	\N	ncbi_taxonomy	0	EFO	Candida dubliniensis	Candida dubliniensis
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:42374	"" []	195366	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Candida dubliniensis
NCBITaxon:42413	\N	\N	"" []	NCBITaxon:42413	"" []	72404	\N	\N	ncbi_taxonomy	0	EFO	Peromyscus polionotus	Peromyscus polionotus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:42413	"" []	195367	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Peromyscus polionotus
NCBITaxon:426	\N	\N	"" []	NCBITaxon:426	"" []	72405	\N	\N	ncbi_taxonomy	0	EFO	Methylosinus trichosporium	Methylosinus trichosporium
NCBITaxon:2	NCBITaxon:426	\N	"" []	NCBITaxon:426	"" []	225923	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Methylosinus trichosporium
NCBITaxon:426114	\N	\N	"" []	NCBITaxon:426114	"" []	72406	\N	\N	ncbi_taxonomy	0	EFO	Thiomonas sp. 3As	Thiomonas sp. 3As
NCBITaxon:2	NCBITaxon:426114	\N	"" []	NCBITaxon:426114	"" []	225924	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Thiomonas sp. 3As
NCBITaxon:426430	\N	\N	"" []	NCBITaxon:426430	"" []	72407	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus aureus subsp. aureus str. Newman	Staphylococcus aureus subsp. aureus str. Newman
NCBITaxon:2	NCBITaxon:426430	\N	"" []	NCBITaxon:426430	"" []	225925	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus aureus subsp. aureus str. Newman
NCBITaxon:42677	\N	\N	"" []	NCBITaxon:42677	"" []	72408	\N	\N	ncbi_taxonomy	0	EFO	Fusarium subglutinans	Fusarium subglutinans
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:42677	"" []	195368	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Fusarium subglutinans
NCBITaxon:42858	\N	\N	"" []	NCBITaxon:42858	"" []	72409	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus lentus	Staphylococcus lentus
NCBITaxon:2	NCBITaxon:42858	\N	"" []	NCBITaxon:42858	"" []	225926	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus lentus
NCBITaxon:430498	\N	\N	"" []	NCBITaxon:430498	"" []	72410	\N	\N	ncbi_taxonomy	0	EFO	Dactylellina haptotyla	Dactylellina haptotyla
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:430498	"" []	195369	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Dactylellina haptotyla
NCBITaxon:431241	\N	\N	"" []	NCBITaxon:431241	"" []	72411	\N	\N	ncbi_taxonomy	0	EFO	Trichoderma reesei QM6a	Trichoderma reesei QM6a
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:431241	"" []	195370	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Trichoderma reesei QM6a
NCBITaxon:43179	\N	\N	"" []	NCBITaxon:43179	"" []	72413	\N	\N	ncbi_taxonomy	0	EFO	Spermophilus tridecemlineatus	Spermophilus tridecemlineatus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:43179	"" []	195372	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Spermophilus tridecemlineatus
NCBITaxon:431947	\N	\N	"" []	NCBITaxon:431947	"" []	72414	\N	\N	ncbi_taxonomy	0	EFO	Porphyromonas gingivalis ATCC 33277	Porphyromonas gingivalis ATCC 33277
NCBITaxon:2	NCBITaxon:431947	\N	"" []	NCBITaxon:431947	"" []	225927	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Porphyromonas gingivalis ATCC 33277
NCBITaxon:43256	\N	\N	"" []	NCBITaxon:43256	"" []	72415	\N	\N	ncbi_taxonomy	0	EFO	Harpagifer antarcticus	Harpagifer antarcticus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:43256	"" []	195373	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Harpagifer antarcticus
NCBITaxon:43335	\N	\N	"" []	NCBITaxon:43335	"" []	72416	\N	\N	ncbi_taxonomy	0	EFO	Populus alba	Populus alba
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:43335	"" []	195374	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus alba
NCBITaxon:434270	\N	\N	"" []	NCBITaxon:434270	"" []	72417	\N	\N	ncbi_taxonomy	0	EFO	Actinobacillus pleuropneumoniae serovar 3	Actinobacillus pleuropneumoniae serovar 3
NCBITaxon:2	NCBITaxon:434270	\N	"" []	NCBITaxon:434270	"" []	225928	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Actinobacillus pleuropneumoniae serovar 3
NCBITaxon:43490	\N	\N	"" []	NCBITaxon:43490	"" []	72418	\N	\N	ncbi_taxonomy	0	EFO	Gyps africanus	Gyps africanus
NCBITaxon:8965	NCBITaxon:43490	\N	"" []	NCBITaxon:43490	"" []	225929	\N	\N	ncbi_taxonomy	1	EFO	Gyps	Gyps africanus
NCBITaxon:435	\N	\N	"" []	NCBITaxon:435	"" []	72419	\N	\N	ncbi_taxonomy	0	EFO	Acetobacter aceti	Acetobacter aceti
NCBITaxon:2	NCBITaxon:435	\N	"" []	NCBITaxon:435	"" []	225930	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Acetobacter aceti
NCBITaxon:43687	\N	\N	"" []	NCBITaxon:43687	"" []	72420	\N	\N	ncbi_taxonomy	0	EFO	Metallosphaera sedula	Metallosphaera sedula
NCBITaxon:2157	NCBITaxon:43687	\N	"" []	NCBITaxon:43687	"" []	225931	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Metallosphaera sedula
NCBITaxon:43696	\N	\N	"" []	NCBITaxon:43696	"" []	72421	\N	\N	ncbi_taxonomy	0	EFO	Chara corallina	Chara corallina
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:43696	"" []	195375	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Chara corallina
NCBITaxon:439688	\N	\N	"" []	NCBITaxon:439688	"" []	72422	\N	\N	ncbi_taxonomy	0	EFO	Sedum alfredii	Sedum alfredii
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:439688	"" []	195376	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Sedum alfredii
NCBITaxon:43988	\N	\N	"" []	NCBITaxon:43988	"" []	72423	\N	\N	ncbi_taxonomy	0	EFO	Cyanothece	Cyanothece
NCBITaxon:2	NCBITaxon:43988	\N	"" []	NCBITaxon:43988	"" []	225932	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Cyanothece
NCBITaxon:43989	\N	\N	"" []	NCBITaxon:43989	"" []	72424	\N	\N	ncbi_taxonomy	0	EFO	Cyanothece sp. ATCC 51142	Cyanothece sp. ATCC 51142
NCBITaxon:2	NCBITaxon:43989	\N	"" []	NCBITaxon:43989	"" []	225933	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Cyanothece sp. ATCC 51142
NCBITaxon:44001	\N	\N	"" []	NCBITaxon:44001	"" []	72425	\N	\N	ncbi_taxonomy	0	EFO	Caldicellulosiruptor saccharolyticus	Caldicellulosiruptor saccharolyticus
NCBITaxon:2	NCBITaxon:44001	\N	"" []	NCBITaxon:44001	"" []	225934	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Caldicellulosiruptor saccharolyticus
NCBITaxon:44056	\N	\N	"" []	NCBITaxon:44056	"" []	72426	\N	\N	ncbi_taxonomy	0	EFO	Aureococcus anophagefferens	Aureococcus anophagefferens
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:44056	"" []	195377	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Aureococcus anophagefferens
NCBITaxon:44249	\N	\N	"" []	NCBITaxon:44249	"" []	72427	\N	\N	ncbi_taxonomy	0	EFO	Paenibacillus	Paenibacillus
NCBITaxon:2	NCBITaxon:44249	\N	"" []	NCBITaxon:44249	"" []	225935	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Paenibacillus
NCBITaxon:44271	\N	\N	"" []	NCBITaxon:44271	"" []	72428	\N	\N	ncbi_taxonomy	0	EFO	Leishmania chagasi	Leishmania chagasi
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:44271	"" []	195378	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Leishmania chagasi
NCBITaxon:44294	\N	\N	"" []	NCBITaxon:44294	"" []	72429	\N	\N	ncbi_taxonomy	0	EFO	Actinobacillus pleuropneumoniae serovar 5	Actinobacillus pleuropneumoniae serovar 5
NCBITaxon:2	NCBITaxon:44294	\N	"" []	NCBITaxon:44294	"" []	225936	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Actinobacillus pleuropneumoniae serovar 5
NCBITaxon:44397	\N	\N	"" []	NCBITaxon:44397	"" []	72430	\N	\N	ncbi_taxonomy	0	EFO	Melospiza melodia	Melospiza melodia
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:44397	"" []	195379	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Melospiza melodia
NCBITaxon:44477	\N	\N	"" []	NCBITaxon:44477	"" []	72431	\N	\N	ncbi_taxonomy	0	EFO	Apis mellifera mellifera	Apis mellifera mellifera
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:44477	"" []	195380	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Apis mellifera mellifera
NCBITaxon:446	\N	\N	"" []	NCBITaxon:446	"" []	72432	\N	\N	ncbi_taxonomy	0	EFO	Legionella pneumophila	Legionella pneumophila
NCBITaxon:2	NCBITaxon:446	\N	"" []	NCBITaxon:446	"" []	225937	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Legionella pneumophila
NCBITaxon:446639	\N	\N	"" []	NCBITaxon:446639	"" []	72434	\N	\N	ncbi_taxonomy	0	EFO	Trichophyton longifusum	Trichophyton longifusum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:446639	"" []	195381	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Trichophyton longifusum
NCBITaxon:44689	\N	\N	"" []	NCBITaxon:44689	"" []	72435	\N	\N	ncbi_taxonomy	0	EFO	Dictyostelium discoideum	Dictyostelium discoideum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:44689	"" []	195382	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Dictyostelium discoideum
NCBITaxon:447426	\N	\N	"" []	NCBITaxon:447426	"" []	72436	\N	\N	ncbi_taxonomy	0	EFO	human oral metagenome	human oral metagenome
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:447426	"" []	195383	\N	\N	ncbi_taxonomy	0	EFO	organism	human oral metagenome
NCBITaxon:449216	\N	\N	"" []	NCBITaxon:449216	"" []	72437	\N	\N	ncbi_taxonomy	0	EFO	Rickettsia prowazekii Rp22	Rickettsia prowazekii Rp22
NCBITaxon:2	NCBITaxon:449216	\N	"" []	NCBITaxon:449216	"" []	225938	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rickettsia prowazekii Rp22
NCBITaxon:4498	\N	\N	"" []	NCBITaxon:4498	"" []	72438	\N	\N	ncbi_taxonomy	0	EFO	Avena sativa	Avena sativa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4498	"" []	195384	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Avena sativa
NCBITaxon:450	\N	\N	"" []	NCBITaxon:450	"" []	72439	\N	\N	ncbi_taxonomy	0	EFO	Legionella longbeachae	Legionella longbeachae
NCBITaxon:2	NCBITaxon:450	\N	"" []	NCBITaxon:450	"" []	225939	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Legionella longbeachae
NCBITaxon:4502	\N	\N	"" []	NCBITaxon:4502	"" []	72440	\N	\N	ncbi_taxonomy	0	EFO	Bromus secalinus	Bromus secalinus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4502	"" []	195385	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Bromus secalinus
NCBITaxon:4513	\N	\N	"" []	NCBITaxon:4513	"" []	72441	\N	\N	ncbi_taxonomy	0	EFO	Hordeum vulgare	Hordeum vulgare
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4513	"" []	195386	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Hordeum vulgare
NCBITaxon:45130	\N	\N	"" []	NCBITaxon:45130	"" []	72442	\N	\N	ncbi_taxonomy	0	EFO	Cochliobolus sativus	Cochliobolus sativus
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:45130	"" []	195387	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Cochliobolus sativus
NCBITaxon:45157	\N	\N	"" []	NCBITaxon:45157	"" []	72443	\N	\N	ncbi_taxonomy	0	EFO	Cyanidioschyzon merolae	Cyanidioschyzon merolae
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:45157	"" []	195388	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cyanidioschyzon merolae
NCBITaxon:45218	\N	\N	"" []	NCBITaxon:45218	"" []	72444	\N	\N	ncbi_taxonomy	0	EFO	Amapari virus	Amapari virus
NCBITaxon:10239	NCBITaxon:45218	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:45218	"" []	225940	\N	\N	ncbi_taxonomy	1	EFO	Virus	Amapari virus
NCBITaxon:45219	\N	\N	"" []	NCBITaxon:45219	"" []	72445	\N	\N	ncbi_taxonomy	0	EFO	Guanarito virus	Guanarito virus
NCBITaxon:10239	NCBITaxon:45219	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:45219	"" []	225941	\N	\N	ncbi_taxonomy	1	EFO	Virus	Guanarito virus
NCBITaxon:4522	\N	\N	"" []	NCBITaxon:4522	"" []	72446	\N	\N	ncbi_taxonomy	0	EFO	Lolium perenne	Lolium perenne
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4522	"" []	195389	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Lolium perenne
NCBITaxon:45249	\N	\N	"" []	NCBITaxon:45249	"" []	72447	\N	\N	ncbi_taxonomy	0	EFO	Arabidopsis suecica	Arabidopsis suecica
NCBITaxon:3701	NCBITaxon:45249	\N	"" []	NCBITaxon:45249	"" []	225942	\N	\N	ncbi_taxonomy	1	EFO	Arabidopsis	Arabidopsis suecica
NCBITaxon:45264	\N	\N	"" []	NCBITaxon:45264	"" []	72448	\N	\N	ncbi_taxonomy	0	EFO	Acropora millepora	Acropora millepora
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:45264	"" []	195390	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Acropora millepora
NCBITaxon:4528	\N	\N	"" []	NCBITaxon:4528	"" []	72449	\N	\N	ncbi_taxonomy	0	EFO	Oryza longistaminata	Oryza longistaminata
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4528	"" []	195391	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Oryza longistaminata
NCBITaxon:4529	\N	\N	"" []	NCBITaxon:4529	"" []	72450	\N	\N	ncbi_taxonomy	0	EFO	Oryza rufipogon	Oryza rufipogon
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4529	"" []	195392	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Oryza rufipogon
NCBITaxon:4530	\N	\N	"" []	NCBITaxon:4530	"" []	72451	\N	\N	ncbi_taxonomy	0	EFO	Oryza sativa	Oryza sativa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4530	"" []	195393	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Oryza sativa
NCBITaxon:45351	\N	\N	"" []	NCBITaxon:45351	"" []	72452	\N	\N	ncbi_taxonomy	0	EFO	Nematostella vectensis	Nematostella vectensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:45351	"" []	195394	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Nematostella vectensis
NCBITaxon:4536	\N	\N	"" []	NCBITaxon:4536	"" []	72453	\N	\N	ncbi_taxonomy	0	EFO	Oryza nivara	Oryza nivara
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4536	"" []	195395	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Oryza nivara
NCBITaxon:4543	\N	\N	"" []	NCBITaxon:4543	"" []	72455	\N	\N	ncbi_taxonomy	0	EFO	Cenchrus americanus	Cenchrus americanus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4543	"" []	195396	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Cenchrus americanus
NCBITaxon:454631	\N	\N	"" []	NCBITaxon:454631	"" []	72456	\N	\N	ncbi_taxonomy	0	EFO	Rhamphochromis sp. 'chilingali'	Rhamphochromis sp. 'chilingali'
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:454631	"" []	195397	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Rhamphochromis sp. 'chilingali'
NCBITaxon:4547	\N	\N	"" []	NCBITaxon:4547	"" []	72457	\N	\N	ncbi_taxonomy	0	EFO	Saccharum officinarum	Saccharum officinarum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4547	"" []	195398	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Saccharum officinarum
NCBITaxon:4555	\N	\N	"" []	NCBITaxon:4555	"" []	72458	\N	\N	ncbi_taxonomy	0	EFO	Setaria italica	Setaria italica
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4555	"" []	195399	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Setaria italica
NCBITaxon:455632	\N	\N	"" []	NCBITaxon:455632	"" []	72459	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces griseus subsp. griseus NBRC 13350	Streptomyces griseus subsp. griseus NBRC 13350
NCBITaxon:2	NCBITaxon:455632	\N	"" []	NCBITaxon:455632	"" []	225943	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces griseus subsp. griseus NBRC 13350
NCBITaxon:4558	\N	\N	"" []	NCBITaxon:4558	"" []	72460	\N	\N	ncbi_taxonomy	0	EFO	Sorghum bicolor	Sorghum bicolor
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4558	"" []	195400	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Sorghum bicolor
NCBITaxon:45596	\N	\N	"" []	NCBITaxon:45596	"" []	72461	\N	\N	ncbi_taxonomy	0	EFO	Candida tenuis	Candida tenuis
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:45596	"" []	195401	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Candida tenuis
NCBITaxon:45629	\N	\N	"" []	NCBITaxon:45629	"" []	72462	\N	\N	ncbi_taxonomy	0	EFO	Desulfovibrio halophilus	Desulfovibrio halophilus
NCBITaxon:2	NCBITaxon:45629	\N	"" []	NCBITaxon:45629	"" []	225944	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Desulfovibrio halophilus
NCBITaxon:4565	\N	\N	"" []	NCBITaxon:4565	"" []	72463	\N	\N	ncbi_taxonomy	0	EFO	Triticum aestivum	Triticum aestivum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4565	"" []	195402	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Triticum aestivum
NCBITaxon:4567	\N	\N	"" []	NCBITaxon:4567	"" []	72464	\N	\N	ncbi_taxonomy	0	EFO	Triticum durum	Triticum durum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4567	"" []	195403	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Triticum durum
NCBITaxon:456999	\N	\N	"" []	NCBITaxon:456999	"" []	72465	\N	\N	ncbi_taxonomy	0	EFO	Rhizoctonia solani	Rhizoctonia solani
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:456999	"" []	195404	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Rhizoctonia solani
NCBITaxon:45709	\N	\N	"" []	NCBITaxon:45709	"" []	72466	\N	\N	ncbi_taxonomy	0	EFO	Sabia virus	Sabia virus
NCBITaxon:10239	NCBITaxon:45709	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:45709	"" []	225945	\N	\N	ncbi_taxonomy	1	EFO	Virus	Sabia virus
NCBITaxon:4572	\N	\N	"Triticum urartu, also known as red wild einkorn, is a grass species related to wheat, and native to western Asia. It is a diploid species whose genome is the A genome of the allopolyploid hexaploid bread wheat Triticum aestivum, which has genomes AABBDD." []	NCBITaxon:4572	"Triticum urartu, also known as red wild einkorn, is a grass species related to wheat, and native to western Asia. It is a diploid species whose genome is the A genome of the allopolyploid hexaploid bread wheat Triticum aestivum, which has genomes AABBDD." []	72467	\N	\N	ncbi_taxonomy	0	EFO	Triticum urartu	Triticum urartu
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4572	"Triticum urartu, also known as red wild einkorn, is a grass species related to wheat, and native to western Asia. It is a diploid species whose genome is the A genome of the allopolyploid hexaploid bread wheat Triticum aestivum, which has genomes AABBDD." []	195405	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Triticum urartu
NCBITaxon:4577	\N	\N	"" []	NCBITaxon:4577	"" []	72469	\N	\N	ncbi_taxonomy	0	EFO	Zea mays	Zea mays
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4577	"" []	195406	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Zea mays
NCBITaxon:45954	\N	\N	"" []	NCBITaxon:45954	"" []	72471	\N	\N	ncbi_taxonomy	0	EFO	Dreissena polymorpha	Dreissena polymorpha
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:45954	"" []	195408	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Dreissena polymorpha
NCBITaxon:4606	\N	\N	"" []	NCBITaxon:4606	"" []	72472	\N	\N	ncbi_taxonomy	0	EFO	Festuca arundinacea	Festuca arundinacea
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4606	"" []	195409	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Festuca arundinacea
NCBITaxon:46244	\N	\N	"" []	NCBITaxon:46244	"" []	72473	\N	\N	ncbi_taxonomy	0	EFO	Drosophila pseudoobscura bogotana	Drosophila pseudoobscura bogotana
NCBITaxon:7215	NCBITaxon:46244	\N	"" []	NCBITaxon:46244	"" []	225946	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila pseudoobscura bogotana
NCBITaxon:4641	\N	\N	"" []	NCBITaxon:4641	"" []	72474	\N	\N	ncbi_taxonomy	0	EFO	Musa acuminata	Musa acuminata
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4641	"" []	195410	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Musa acuminata
NCBITaxon:46472	\N	\N	"" []	NCBITaxon:46472	"" []	72475	\N	\N	ncbi_taxonomy	0	EFO	Aspergillus versicolor	Aspergillus versicolor
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:46472	"" []	195411	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Aspergillus versicolor
NCBITaxon:4679	\N	\N	"" []	NCBITaxon:4679	"" []	72476	\N	\N	ncbi_taxonomy	0	EFO	Allium cepa	Allium cepa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4679	"" []	195412	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Allium cepa
NCBITaxon:46838	\N	\N	"" []	NCBITaxon:46838	"" []	72477	\N	\N	ncbi_taxonomy	0	EFO	Musa sp.	Musa sp.
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:46838	"" []	195413	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Musa sp.
NCBITaxon:4690	\N	\N	"" []	NCBITaxon:4690	"" []	72478	\N	\N	ncbi_taxonomy	0	EFO	Lilium longiflorum	Lilium longiflorum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:4690	"" []	195414	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Lilium longiflorum
NCBITaxon:469008	\N	\N	"" []	NCBITaxon:469008	"" []	72479	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli BL21(DE3)	Escherichia coli BL21(DE3)
NCBITaxon:2	NCBITaxon:469008	\N	"" []	NCBITaxon:469008	"" []	225947	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli BL21(DE3)
NCBITaxon:470	\N	\N	"" []	NCBITaxon:470	"" []	72480	\N	\N	ncbi_taxonomy	0	EFO	Acinetobacter baumannii	Acinetobacter baumannii
NCBITaxon:2	NCBITaxon:470	\N	"" []	NCBITaxon:470	"" []	225948	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Acinetobacter baumannii
NCBITaxon:471876	\N	\N	"" []	NCBITaxon:471876	"" []	72481	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus pyogenes NZ131	Streptococcus pyogenes NZ131
NCBITaxon:2	NCBITaxon:471876	\N	"" []	NCBITaxon:471876	"" []	225949	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus pyogenes NZ131
NCBITaxon:47247	\N	\N	"" []	NCBITaxon:47247	"" []	72482	\N	\N	ncbi_taxonomy	0	EFO	Lotus corniculatus	Lotus corniculatus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:47247	"" []	195415	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Lotus corniculatus
NCBITaxon:474186	\N	\N	"" []	NCBITaxon:474186	"" []	72484	\N	\N	ncbi_taxonomy	0	EFO	Enterococcus faecalis OG1RF	Enterococcus faecalis OG1RF
NCBITaxon:2	NCBITaxon:474186	\N	"" []	NCBITaxon:474186	"" []	225950	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Enterococcus faecalis OG1RF
NCBITaxon:47493	\N	\N	"" []	NCBITaxon:47493	"" []	72485	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus panis	Lactobacillus panis
NCBITaxon:2	NCBITaxon:47493	\N	"" []	NCBITaxon:47493	"" []	225951	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus panis
NCBITaxon:47506	\N	\N	"" []	NCBITaxon:47506	"" []	72486	\N	\N	ncbi_taxonomy	0	EFO	Human echovirus 18	Human echovirus 18
NCBITaxon:10239	NCBITaxon:47506	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:47506	"" []	225952	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human echovirus 18
NCBITaxon:476074	\N	\N	"" []	NCBITaxon:476074	"" []	72488	\N	\N	ncbi_taxonomy	0	EFO	Onthophagus nigriventris	Onthophagus nigriventris
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:476074	"" []	195416	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Onthophagus nigriventris
NCBITaxon:47664	\N	\N	"" []	NCBITaxon:47664	"" []	72490	\N	\N	ncbi_taxonomy	0	EFO	Populus tremula x Populus tremuloides	Populus tremula x Populus tremuloides
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:47664	"" []	195417	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus tremula x Populus tremuloides
NCBITaxon:47715	\N	\N	"" []	NCBITaxon:47715	"" []	72491	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus rhamnosus	Lactobacillus rhamnosus
NCBITaxon:2	NCBITaxon:47715	\N	"" []	NCBITaxon:47715	"" []	225953	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus rhamnosus
NCBITaxon:47767	\N	\N	"" []	NCBITaxon:47767	"" []	72492	\N	\N	ncbi_taxonomy	0	EFO	Agrotis segetum	Agrotis segetum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:47767	"" []	195418	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Agrotis segetum
NCBITaxon:47770	\N	\N	"" []	NCBITaxon:47770	"" []	72493	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus crispatus	Lactobacillus crispatus
NCBITaxon:2	NCBITaxon:47770	\N	"" []	NCBITaxon:47770	"" []	225954	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus crispatus
NCBITaxon:477815	\N	\N	"" []	NCBITaxon:477815	"" []	72494	\N	\N	ncbi_taxonomy	0	EFO	Mus musculus musculus x M. m. domesticus	Mus musculus musculus x M. m. domesticus
NCBITaxon:10090	NCBITaxon:477815	\N	"" []	NCBITaxon:477815	"" []	225955	\N	\N	ncbi_taxonomy	1	EFO	Mus musculus	Mus musculus musculus x M. m. domesticus
NCBITaxon:477955	\N	\N	"" []	NCBITaxon:477955	"" []	72495	\N	\N	ncbi_taxonomy	0	EFO	Symplocarpus renifolius	Symplocarpus renifolius
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:477955	"" []	195419	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Symplocarpus renifolius
NCBITaxon:4787	\N	\N	"" []	NCBITaxon:4787	"" []	72496	\N	\N	ncbi_taxonomy	0	EFO	Phytophthora infestans	Phytophthora infestans
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:4787	"" []	195420	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Phytophthora infestans
NCBITaxon:478749	\N	\N	"" []	NCBITaxon:478749	"" []	72497	\N	\N	ncbi_taxonomy	0	EFO	Marvinbryantia formatexigens DSM 14469	Marvinbryantia formatexigens DSM 14469
NCBITaxon:2	NCBITaxon:478749	\N	"" []	NCBITaxon:478749	"" []	225956	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Marvinbryantia formatexigens DSM 14469
NCBITaxon:47929	\N	\N	"" []	NCBITaxon:47929	"" []	72498	\N	\N	ncbi_taxonomy	0	EFO	Macacine herpesvirus 3	Macacine herpesvirus 3
NCBITaxon:10239	NCBITaxon:47929	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:47929	"" []	225957	\N	\N	ncbi_taxonomy	1	EFO	Virus	Macacine herpesvirus 3
NCBITaxon:480	\N	\N	"" []	NCBITaxon:480	"" []	72499	\N	\N	ncbi_taxonomy	0	EFO	Moraxella catarrhalis	Moraxella catarrhalis
NCBITaxon:2	NCBITaxon:480	\N	"" []	NCBITaxon:480	"" []	225958	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Moraxella catarrhalis
NCBITaxon:4808	\N	\N	"" []	NCBITaxon:4808	"" []	72500	\N	\N	ncbi_taxonomy	0	EFO	Blastocladiella emersonii	Blastocladiella emersonii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:4808	"" []	195421	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Blastocladiella emersonii
NCBITaxon:481606	\N	\N	"" []	NCBITaxon:481606	"" []	72501	\N	\N	ncbi_taxonomy	0	EFO	Xenopus laevis x Xenopus muelleri	Xenopus laevis x Xenopus muelleri
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:481606	"" []	195422	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Xenopus laevis x Xenopus muelleri
NCBITaxon:482	\N	\N	"" []	NCBITaxon:482	"" []	72502	\N	\N	ncbi_taxonomy	0	EFO	Neisseria	Neisseria
NCBITaxon:2	NCBITaxon:482	\N	"" []	NCBITaxon:482	"" []	225959	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Neisseria
NCBITaxon:482058	\N	\N	"" []	NCBITaxon:482058	"" []	72503	\N	\N	ncbi_taxonomy	0	EFO	Ralstonia phage RSL1	Ralstonia phage RSL1
NCBITaxon:10239	NCBITaxon:482058	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:482058	"" []	225960	\N	\N	ncbi_taxonomy	1	EFO	Virus	Ralstonia phage RSL1
NCBITaxon:482957	\N	\N	"" []	NCBITaxon:482957	"" []	72504	\N	\N	ncbi_taxonomy	0	EFO	Burkholderia lata	Burkholderia lata
NCBITaxon:2	NCBITaxon:482957	\N	"" []	NCBITaxon:482957	"" []	225961	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Burkholderia lata
NCBITaxon:483	\N	\N	"" []	NCBITaxon:483	"" []	72505	\N	\N	ncbi_taxonomy	0	EFO	Neisseria cinerea	Neisseria cinerea
NCBITaxon:2	NCBITaxon:483	\N	"" []	NCBITaxon:483	"" []	225962	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Neisseria cinerea
NCBITaxon:484	\N	\N	"" []	NCBITaxon:484	"" []	72506	\N	\N	ncbi_taxonomy	0	EFO	Neisseria flavescens	Neisseria flavescens
NCBITaxon:2	NCBITaxon:484	\N	"" []	NCBITaxon:484	"" []	225963	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Neisseria flavescens
NCBITaxon:48416	\N	\N	"" []	NCBITaxon:48416	"" []	72507	\N	\N	ncbi_taxonomy	0	EFO	Zoarces viviparus	Zoarces viviparus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:48416	"" []	195423	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Zoarces viviparus
NCBITaxon:48485	\N	\N	"" []	NCBITaxon:48485	"" []	72508	\N	\N	ncbi_taxonomy	0	EFO	Fusarium anthophilum	Fusarium anthophilum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:48485	"" []	195424	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Fusarium anthophilum
NCBITaxon:48498	\N	\N	"" []	NCBITaxon:48498	"" []	72509	\N	\N	ncbi_taxonomy	0	EFO	Montastraea faveolata	Montastraea faveolata
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:48498	"" []	195425	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Montastraea faveolata
NCBITaxon:485	\N	\N	"" []	NCBITaxon:485	"" []	72510	\N	\N	ncbi_taxonomy	0	EFO	Neisseria gonorrhoeae	Neisseria gonorrhoeae
NCBITaxon:2	NCBITaxon:485	\N	"" []	NCBITaxon:485	"" []	225964	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Neisseria gonorrhoeae
NCBITaxon:486	\N	\N	"" []	NCBITaxon:486	"" []	72511	\N	\N	ncbi_taxonomy	0	EFO	Neisseria lactamica	Neisseria lactamica
NCBITaxon:2	NCBITaxon:486	\N	"" []	NCBITaxon:486	"" []	225965	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Neisseria lactamica
NCBITaxon:486041	\N	\N	"" []	NCBITaxon:486041	"" []	72512	\N	\N	ncbi_taxonomy	0	EFO	Laccaria bicolor S238N-H82	Laccaria bicolor S238N-H82
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:486041	"" []	195426	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Laccaria bicolor S238N-H82
NCBITaxon:487	\N	\N	"" []	NCBITaxon:487	"" []	72513	\N	\N	ncbi_taxonomy	0	EFO	Neisseria meningitidis	Neisseria meningitidis
NCBITaxon:2	NCBITaxon:487	\N	"" []	NCBITaxon:487	"" []	225966	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Neisseria meningitidis
NCBITaxon:48709	\N	\N	"" []	NCBITaxon:48709	"" []	72514	\N	\N	ncbi_taxonomy	0	EFO	Orchesella cincta	Orchesella cincta
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:48709	"" []	195427	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Orchesella cincta
NCBITaxon:4876	\N	\N	"" []	NCBITaxon:4876	"" []	72515	\N	\N	ncbi_taxonomy	0	EFO	Glomus intraradices	Glomus intraradices
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:4876	"" []	195428	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Glomus intraradices
NCBITaxon:487795	\N	\N	"" []	NCBITaxon:487795	"" []	72516	\N	\N	ncbi_taxonomy	0	EFO	Cardamine sp. SIM-2007	Cardamine sp. SIM-2007
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:487795	"" []	195429	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Cardamine sp. SIM-2007
NCBITaxon:488	\N	\N	"" []	NCBITaxon:488	"" []	72517	\N	\N	ncbi_taxonomy	0	EFO	Neisseria mucosa	Neisseria mucosa
NCBITaxon:2	NCBITaxon:488	\N	"" []	NCBITaxon:488	"" []	225967	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Neisseria mucosa
NCBITaxon:48882	\N	\N	"" []	NCBITaxon:48882	"" []	72518	\N	\N	ncbi_taxonomy	0	EFO	Geospiza conirostris	Geospiza conirostris
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:48882	"" []	195430	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Geospiza conirostris
NCBITaxon:48883	\N	\N	"" []	NCBITaxon:48883	"" []	72519	\N	\N	ncbi_taxonomy	0	EFO	Geospiza fortis	Geospiza fortis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:48883	"" []	195431	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Geospiza fortis
NCBITaxon:48885	\N	\N	"" []	NCBITaxon:48885	"" []	72520	\N	\N	ncbi_taxonomy	0	EFO	Geospiza magnirostris	Geospiza magnirostris
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:48885	"" []	195432	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Geospiza magnirostris
NCBITaxon:48886	\N	\N	"" []	NCBITaxon:48886	"" []	72521	\N	\N	ncbi_taxonomy	0	EFO	Geospiza scandens	Geospiza scandens
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:48886	"" []	195433	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Geospiza scandens
NCBITaxon:489	\N	\N	"" []	NCBITaxon:489	"" []	72522	\N	\N	ncbi_taxonomy	0	EFO	Neisseria polysaccharea	Neisseria polysaccharea
NCBITaxon:2	NCBITaxon:489	\N	"" []	NCBITaxon:489	"" []	225968	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Neisseria polysaccharea
NCBITaxon:4896	\N	\N	"" []	NCBITaxon:4896	"" []	72524	\N	\N	ncbi_taxonomy	0	EFO	Schizosaccharomyces pombe	Schizosaccharomyces pombe
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:4896	"" []	195434	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Schizosaccharomyces pombe
NCBITaxon:4897	\N	\N	"" []	NCBITaxon:4897	"" []	72525	\N	\N	ncbi_taxonomy	0	EFO	Schizosaccharomyces japonicus	Schizosaccharomyces japonicus
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:4897	"" []	195435	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Schizosaccharomyces japonicus
NCBITaxon:4922	\N	\N	"" []	NCBITaxon:4922	"" []	72526	\N	\N	ncbi_taxonomy	0	EFO	Komagataella pastoris	Komagataella pastoris
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:4922	"" []	195436	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Komagataella pastoris
NCBITaxon:49274	\N	\N	"" []	NCBITaxon:49274	"" []	72528	\N	\N	ncbi_taxonomy	0	EFO	Lycopersicon	Lycopersicon
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:49274	"" []	195437	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Lycopersicon
NCBITaxon:4931	\N	\N	"" []	NCBITaxon:4931	"" []	72529	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces bayanus	Saccharomyces bayanus
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:4931	"" []	195438	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces bayanus
NCBITaxon:4932	\N	\N	"" []	NCBITaxon:4932	"" []	72530	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces cerevisiae	Saccharomyces cerevisiae
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:4932	"" []	195439	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces cerevisiae
NCBITaxon:49451	\N	\N	"" []	NCBITaxon:49451	"" []	72531	\N	\N	ncbi_taxonomy	0	EFO	Nicotiana attenuata	Nicotiana attenuata
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:49451	"" []	195440	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Nicotiana attenuata
NCBITaxon:495	\N	\N	"" []	NCBITaxon:495	"" []	72532	\N	\N	ncbi_taxonomy	0	EFO	Neisseria elongata	Neisseria elongata
NCBITaxon:2	NCBITaxon:495	\N	"" []	NCBITaxon:495	"" []	225969	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Neisseria elongata
NCBITaxon:4952	\N	\N	"" []	NCBITaxon:4952	"" []	72533	\N	\N	ncbi_taxonomy	0	EFO	Yarrowia lipolytica	Yarrowia lipolytica
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:4952	"" []	195441	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Yarrowia lipolytica
NCBITaxon:4959	\N	\N	"" []	NCBITaxon:4959	"" []	72534	\N	\N	ncbi_taxonomy	0	EFO	Debaryomyces hansenii	Debaryomyces hansenii
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:4959	"" []	195442	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Debaryomyces hansenii
NCBITaxon:495941	\N	\N	"" []	NCBITaxon:495941	"" []	72535	\N	\N	ncbi_taxonomy	0	EFO	Falco chicquera	Falco chicquera
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:495941	"" []	195443	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Falco chicquera
NCBITaxon:49785	\N	\N	"" []	NCBITaxon:49785	"" []	72536	\N	\N	ncbi_taxonomy	0	EFO	Spartina anglica	Spartina anglica
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:49785	"" []	195444	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Spartina anglica
NCBITaxon:49786	\N	\N	"" []	NCBITaxon:49786	"" []	72537	\N	\N	ncbi_taxonomy	0	EFO	Spartina maritima	Spartina maritima
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:49786	"" []	195445	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Spartina maritima
NCBITaxon:498216	\N	\N	"" []	NCBITaxon:498216	"" []	72538	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus casei str. Zhang	Lactobacillus casei str. Zhang
NCBITaxon:2	NCBITaxon:498216	\N	"" []	NCBITaxon:498216	"" []	225970	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus casei str. Zhang
NCBITaxon:5022	\N	\N	"" []	NCBITaxon:5022	"" []	72539	\N	\N	ncbi_taxonomy	0	EFO	Leptosphaeria maculans	Leptosphaeria maculans
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5022	"" []	195446	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Leptosphaeria maculans
NCBITaxon:50225	\N	\N	"" []	NCBITaxon:50225	"" []	72540	\N	\N	ncbi_taxonomy	0	EFO	Taraxacum officinale	Taraxacum officinale
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:50225	"" []	195447	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Taraxacum officinale
NCBITaxon:502705	\N	\N	"" []	NCBITaxon:502705	"" []	72541	\N	\N	ncbi_taxonomy	0	EFO	Fusarium acuminatum	Fusarium acuminatum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:502705	"" []	195448	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Fusarium acuminatum
NCBITaxon:502779	\N	\N	"" []	NCBITaxon:502779	"" []	72542	\N	\N	ncbi_taxonomy	0	EFO	Paracoccidioides brasiliensis Pb01	Paracoccidioides brasiliensis Pb01
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:502779	"" []	195449	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Paracoccidioides brasiliensis Pb01
NCBITaxon:5037	\N	\N	"" []	NCBITaxon:5037	"" []	72543	\N	\N	ncbi_taxonomy	0	EFO	Ajellomyces capsulatus	Ajellomyces capsulatus
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5037	"" []	195450	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Ajellomyces capsulatus
NCBITaxon:5054	\N	\N	"" []	NCBITaxon:5054	"" []	72544	\N	\N	ncbi_taxonomy	0	EFO	Eurotium amstelodami	Eurotium amstelodami
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5054	"" []	195451	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Eurotium amstelodami
NCBITaxon:5057	\N	\N	"" []	NCBITaxon:5057	"" []	72546	\N	\N	ncbi_taxonomy	0	EFO	Aspergillus clavatus	Aspergillus clavatus
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5057	"" []	195452	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Aspergillus clavatus
NCBITaxon:5059	\N	\N	"" []	NCBITaxon:5059	"" []	72547	\N	\N	ncbi_taxonomy	0	EFO	Aspergillus flavus	Aspergillus flavus
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5059	"" []	195453	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Aspergillus flavus
NCBITaxon:50591	\N	\N	"" []	NCBITaxon:50591	"" []	72548	\N	\N	ncbi_taxonomy	0	EFO	Lithognathus mormyrus	Lithognathus mormyrus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:50591	"" []	195454	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Lithognathus mormyrus
NCBITaxon:5061	\N	\N	"" []	NCBITaxon:5061	"" []	72549	\N	\N	ncbi_taxonomy	0	EFO	Aspergillus niger	Aspergillus niger
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5061	"" []	195455	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Aspergillus niger
NCBITaxon:5062	\N	\N	"" []	NCBITaxon:5062	"" []	72550	\N	\N	ncbi_taxonomy	0	EFO	Aspergillus oryzae	Aspergillus oryzae
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5062	"" []	195456	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Aspergillus oryzae
NCBITaxon:5067	\N	\N	"" []	NCBITaxon:5067	"" []	72551	\N	\N	ncbi_taxonomy	0	EFO	Aspergillus parasiticus	Aspergillus parasiticus
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5067	"" []	195457	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Aspergillus parasiticus
NCBITaxon:5076	\N	\N	"" []	NCBITaxon:5076	"" []	72552	\N	\N	ncbi_taxonomy	0	EFO	Penicillium chrysogenum	Penicillium chrysogenum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5076	"" []	195458	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Penicillium chrysogenum
NCBITaxon:51029	\N	\N	"" []	NCBITaxon:51029	"" []	72553	\N	\N	ncbi_taxonomy	0	EFO	Heterodera glycines	Heterodera glycines
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:51029	"" []	195459	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Heterodera glycines
NCBITaxon:510516	\N	\N	"" []	NCBITaxon:510516	"" []	72554	\N	\N	ncbi_taxonomy	0	EFO	Aspergillus oryzae RIB40	Aspergillus oryzae RIB40
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:510516	"" []	195460	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Aspergillus oryzae RIB40
NCBITaxon:5111	\N	\N	"" []	NCBITaxon:5111	"" []	72555	\N	\N	ncbi_taxonomy	0	EFO	Claviceps purpurea	Claviceps purpurea
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5111	"" []	195461	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Claviceps purpurea
NCBITaxon:511145	\N	\N	"" []	NCBITaxon:511145	"" []	72556	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli str. K-12 substr. MG1655	Escherichia coli str. K-12 substr. MG1655
NCBITaxon:2	NCBITaxon:511145	\N	"" []	NCBITaxon:511145	"" []	225971	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli str. K-12 substr. MG1655
NCBITaxon:511693	\N	\N	"" []	NCBITaxon:511693	"" []	72557	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli BL21	Escherichia coli BL21
NCBITaxon:2	NCBITaxon:511693	\N	"" []	NCBITaxon:511693	"" []	225972	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli BL21
NCBITaxon:5127	\N	\N	"" []	NCBITaxon:5127	"" []	72558	\N	\N	ncbi_taxonomy	0	EFO	Gibberella fujikuroi	Gibberella fujikuroi
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5127	"" []	195462	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Gibberella fujikuroi
NCBITaxon:5128	\N	\N	"" []	NCBITaxon:5128	"" []	72559	\N	\N	ncbi_taxonomy	0	EFO	Gibberella pulicaris	Gibberella pulicaris
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5128	"" []	195463	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Gibberella pulicaris
NCBITaxon:51351	\N	\N	"" []	NCBITaxon:51351	"" []	72561	\N	\N	ncbi_taxonomy	0	EFO	Brassica rapa subsp. pekinensis	Brassica rapa subsp. pekinensis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:51351	"" []	195465	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Brassica rapa subsp. pekinensis
NCBITaxon:5141	\N	\N	"" []	NCBITaxon:5141	"" []	72562	\N	\N	ncbi_taxonomy	0	EFO	Neurospora crassa	Neurospora crassa
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5141	"" []	195466	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Neurospora crassa
NCBITaxon:5145	\N	\N	"" []	NCBITaxon:5145	"" []	72563	\N	\N	ncbi_taxonomy	0	EFO	Podospora anserina	Podospora anserina
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5145	"" []	195467	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Podospora anserina
NCBITaxon:51453	\N	\N	"" []	NCBITaxon:51453	"" []	72564	\N	\N	ncbi_taxonomy	0	EFO	Hypocrea jecorina	Hypocrea jecorina
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:51453	"" []	195468	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Hypocrea jecorina
NCBITaxon:5147	\N	\N	"" []	NCBITaxon:5147	"" []	72565	\N	\N	ncbi_taxonomy	0	EFO	Sordaria macrospora	Sordaria macrospora
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5147	"" []	195469	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Sordaria macrospora
NCBITaxon:515622	\N	\N	"" []	NCBITaxon:515622	"" []	72566	\N	\N	ncbi_taxonomy	0	EFO	Butyrivibrio proteoclasticus B316	Butyrivibrio proteoclasticus B316
NCBITaxon:2	NCBITaxon:515622	\N	"" []	NCBITaxon:515622	"" []	225973	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Butyrivibrio proteoclasticus B316
NCBITaxon:51631	\N	\N	"" []	NCBITaxon:51631	"" []	72567	\N	\N	ncbi_taxonomy	0	EFO	Nucella lapillus	Nucella lapillus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:51631	"" []	195470	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Nucella lapillus
NCBITaxon:51751	\N	\N	"" []	NCBITaxon:51751	"" []	72568	\N	\N	ncbi_taxonomy	0	EFO	Python regius	Python regius
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:51751	"" []	195471	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Python regius
NCBITaxon:51769	\N	\N	"" []	NCBITaxon:51769	"" []	72569	\N	\N	ncbi_taxonomy	0	EFO	Anemonia viridis	Anemonia viridis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:51769	"" []	195472	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Anemonia viridis
NCBITaxon:518	\N	\N	"" []	NCBITaxon:518	"" []	72570	\N	\N	ncbi_taxonomy	0	EFO	Bordetella bronchiseptica	Bordetella bronchiseptica
NCBITaxon:2	NCBITaxon:518	\N	"" []	NCBITaxon:518	"" []	225974	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bordetella bronchiseptica
NCBITaxon:51859	\N	\N	"" []	NCBITaxon:51859	"" []	72571	\N	\N	ncbi_taxonomy	0	EFO	Corallus	Corallus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:51859	"" []	195473	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Corallus
NCBITaxon:519	\N	\N	"" []	NCBITaxon:519	"" []	72572	\N	\N	ncbi_taxonomy	0	EFO	Bordetella parapertussis	Bordetella parapertussis
NCBITaxon:2	NCBITaxon:519	\N	"" []	NCBITaxon:519	"" []	225975	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bordetella parapertussis
NCBITaxon:520	\N	\N	"" []	NCBITaxon:520	"" []	72573	\N	\N	ncbi_taxonomy	0	EFO	Bordetella pertussis	Bordetella pertussis
NCBITaxon:2	NCBITaxon:520	\N	"" []	NCBITaxon:520	"" []	225976	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bordetella pertussis
NCBITaxon:520522	\N	\N	"" []	NCBITaxon:520522	"" []	72574	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces pastorianus Weihenstephan 34/70	Saccharomyces pastorianus Weihenstephan 34/70
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:520522	"" []	195474	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces pastorianus Weihenstephan 34/70
NCBITaxon:5207	\N	\N	"" []	NCBITaxon:5207	"" []	72575	\N	\N	ncbi_taxonomy	0	EFO	Cryptococcus neoformans	Cryptococcus neoformans
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5207	"" []	195475	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cryptococcus neoformans
NCBITaxon:52670	\N	\N	"" []	NCBITaxon:52670	"" []	72577	\N	\N	ncbi_taxonomy	0	EFO	Austrofundulus limnaeus	Austrofundulus limnaeus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:52670	"" []	195476	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Austrofundulus limnaeus
NCBITaxon:5270	\N	\N	"" []	NCBITaxon:5270	"" []	72578	\N	\N	ncbi_taxonomy	0	EFO	Ustilago maydis	Ustilago maydis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5270	"" []	195477	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Ustilago maydis
NCBITaxon:527021	\N	\N	"" []	NCBITaxon:527021	"" []	72579	\N	\N	ncbi_taxonomy	0	EFO	Bacillus thuringiensis Bt407	Bacillus thuringiensis Bt407
NCBITaxon:2	NCBITaxon:527021	\N	"" []	NCBITaxon:527021	"" []	225977	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacillus thuringiensis Bt407
NCBITaxon:52765	\N	\N	"" []	NCBITaxon:52765	"" []	72580	\N	\N	ncbi_taxonomy	0	EFO	Caldicellulosiruptor kristjanssonii	Caldicellulosiruptor kristjanssonii
NCBITaxon:2	NCBITaxon:52765	\N	"" []	NCBITaxon:52765	"" []	225978	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Caldicellulosiruptor kristjanssonii
NCBITaxon:52766	\N	\N	"" []	NCBITaxon:52766	"" []	72581	\N	\N	ncbi_taxonomy	0	EFO	Caldicellulosiruptor lactoaceticus	Caldicellulosiruptor lactoaceticus
NCBITaxon:2	NCBITaxon:52766	\N	"" []	NCBITaxon:52766	"" []	225979	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Caldicellulosiruptor lactoaceticus
NCBITaxon:52824	\N	\N	"" []	NCBITaxon:52824	"" []	72582	\N	\N	ncbi_taxonomy	0	EFO	Brassica carinata	Brassica carinata
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:52824	"" []	195478	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Brassica carinata
NCBITaxon:528351	\N	\N	"" []	NCBITaxon:528351	"" []	72583	\N	\N	ncbi_taxonomy	0	EFO	Neisseria gonorrhoeae F62	Neisseria gonorrhoeae F62
NCBITaxon:2	NCBITaxon:528351	\N	"" []	NCBITaxon:528351	"" []	225980	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Neisseria gonorrhoeae F62
NCBITaxon:529	\N	\N	"" []	NCBITaxon:529	"" []	72584	\N	\N	ncbi_taxonomy	0	EFO	Ochrobactrum anthropi	Ochrobactrum anthropi
NCBITaxon:2	NCBITaxon:529	\N	"" []	NCBITaxon:529	"" []	225981	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ochrobactrum anthropi
NCBITaxon:52904	\N	\N	"" []	NCBITaxon:52904	"" []	72585	\N	\N	ncbi_taxonomy	0	EFO	Scophthalmus maximus	Scophthalmus maximus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:52904	"" []	195479	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Scophthalmus maximus
NCBITaxon:529507	\N	\N	"" []	NCBITaxon:529507	"" []	72586	\N	\N	ncbi_taxonomy	0	EFO	Proteus mirabilis HI4320	Proteus mirabilis HI4320
NCBITaxon:2	NCBITaxon:529507	\N	"" []	NCBITaxon:529507	"" []	225982	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Proteus mirabilis HI4320
NCBITaxon:529916	\N	\N	"" []	NCBITaxon:529916	"" []	72587	\N	\N	ncbi_taxonomy	0	EFO	Heliconius erato etylus x Heliconius himera	Heliconius erato etylus x Heliconius himera
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:529916	"" []	195480	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Heliconius erato etylus x Heliconius himera
NCBITaxon:5306	\N	\N	"" []	NCBITaxon:5306	"" []	72588	\N	\N	ncbi_taxonomy	0	EFO	Phanerochaete chrysosporium	Phanerochaete chrysosporium
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5306	"" []	195481	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Phanerochaete chrysosporium
NCBITaxon:5334	\N	\N	"" []	NCBITaxon:5334	"" []	72589	\N	\N	ncbi_taxonomy	0	EFO	Schizophyllum commune	Schizophyllum commune
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5334	"" []	195482	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Schizophyllum commune
NCBITaxon:53346	\N	\N	"" []	NCBITaxon:53346	"" []	72590	\N	\N	ncbi_taxonomy	0	EFO	Enterococcus mundtii	Enterococcus mundtii
NCBITaxon:2	NCBITaxon:53346	\N	"" []	NCBITaxon:53346	"" []	225983	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Enterococcus mundtii
NCBITaxon:5346	\N	\N	"" []	NCBITaxon:5346	"" []	72591	\N	\N	ncbi_taxonomy	0	EFO	Coprinopsis cinerea	Coprinopsis cinerea
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5346	"" []	195483	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Coprinopsis cinerea
NCBITaxon:5353	\N	\N	"" []	NCBITaxon:5353	"" []	72592	\N	\N	ncbi_taxonomy	0	EFO	Lentinula edodes	Lentinula edodes
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5353	"" []	195484	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Lentinula edodes
NCBITaxon:536056	\N	\N	"" []	NCBITaxon:536056	"" []	72593	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli DH1	Escherichia coli DH1
NCBITaxon:2	NCBITaxon:536056	\N	"" []	NCBITaxon:536056	"" []	225984	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli DH1
NCBITaxon:538997	\N	\N	"" []	NCBITaxon:538997	"" []	72594	\N	\N	ncbi_taxonomy	0	EFO	Eucalyptus camaldulensis x Eucalyptus grandis	Eucalyptus camaldulensis x Eucalyptus grandis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:538997	"" []	195485	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Eucalyptus camaldulensis x Eucalyptus grandis
NCBITaxon:53961	\N	\N	"" []	NCBITaxon:53961	"" []	72595	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Abortusovis	Salmonella enterica subsp. enterica serovar Abortusovis
NCBITaxon:2	NCBITaxon:53961	\N	"" []	NCBITaxon:53961	"" []	225985	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Abortusovis
NCBITaxon:54126	\N	\N	"" []	NCBITaxon:54126	"" []	72596	\N	\N	ncbi_taxonomy	0	EFO	Pristionchus pacificus	Pristionchus pacificus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:54126	"" []	195486	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pristionchus pacificus
NCBITaxon:5415	\N	\N	"" []	NCBITaxon:5415	"" []	72597	\N	\N	ncbi_taxonomy	0	EFO	Cryptococcus	Cryptococcus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5415	"" []	195487	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cryptococcus
NCBITaxon:542	\N	\N	"" []	NCBITaxon:542	"" []	72598	\N	\N	ncbi_taxonomy	0	EFO	Zymomonas mobilis	Zymomonas mobilis
NCBITaxon:2	NCBITaxon:542	\N	"" []	NCBITaxon:542	"" []	225986	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Zymomonas mobilis
NCBITaxon:54261	\N	\N	"" []	NCBITaxon:54261	"" []	72599	\N	\N	ncbi_taxonomy	0	EFO	Ferroglobus placidus	Ferroglobus placidus
NCBITaxon:2157	NCBITaxon:54261	\N	"" []	NCBITaxon:54261	"" []	225987	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Ferroglobus placidus
NCBITaxon:54388	\N	\N	"" []	NCBITaxon:54388	"" []	72600	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Paratyphi A	Salmonella enterica subsp. enterica serovar Paratyphi A
NCBITaxon:2	NCBITaxon:54388	\N	"" []	NCBITaxon:54388	"" []	225988	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Paratyphi A
NCBITaxon:545	\N	\N	"" []	NCBITaxon:545	"" []	72601	\N	\N	ncbi_taxonomy	0	EFO	Citrobacter koseri	Citrobacter koseri
NCBITaxon:2	NCBITaxon:545	\N	"" []	NCBITaxon:545	"" []	225989	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Citrobacter koseri
NCBITaxon:54571	\N	\N	"" []	NCBITaxon:54571	"" []	72602	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces venezuelae	Streptomyces venezuelae
NCBITaxon:2	NCBITaxon:54571	\N	"" []	NCBITaxon:54571	"" []	225990	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces venezuelae
NCBITaxon:54736	\N	\N	"" []	NCBITaxon:54736	"" []	72603	\N	\N	ncbi_taxonomy	0	EFO	Salmonella bongori	Salmonella bongori
NCBITaxon:2	NCBITaxon:54736	\N	"" []	NCBITaxon:54736	"" []	225991	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella bongori
NCBITaxon:5476	\N	\N	"" []	NCBITaxon:5476	"" []	72604	\N	\N	ncbi_taxonomy	0	EFO	Candida albicans	Candida albicans
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5476	"" []	195488	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Candida albicans
NCBITaxon:5478	\N	\N	"" []	NCBITaxon:5478	"" []	72605	\N	\N	ncbi_taxonomy	0	EFO	Candida glabrata	Candida glabrata
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5478	"" []	195489	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Candida glabrata
NCBITaxon:5480	\N	\N	"" []	NCBITaxon:5480	"" []	72606	\N	\N	ncbi_taxonomy	0	EFO	Candida parapsilosis	Candida parapsilosis
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5480	"" []	195490	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Candida parapsilosis
NCBITaxon:549	\N	\N	"" []	NCBITaxon:549	"" []	72607	\N	\N	ncbi_taxonomy	0	EFO	Pantoea agglomerans	Pantoea agglomerans
NCBITaxon:2	NCBITaxon:549	\N	"" []	NCBITaxon:549	"" []	225992	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pantoea agglomerans
NCBITaxon:54921	\N	\N	"" []	NCBITaxon:54921	"" []	72608	\N	\N	ncbi_taxonomy	0	EFO	Pinus resinosa	Pinus resinosa
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:54921	"" []	195491	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pinus resinosa
NCBITaxon:5503	\N	\N	"" []	NCBITaxon:5503	"" []	72609	\N	\N	ncbi_taxonomy	0	EFO	Cochliobolus lunatus	Cochliobolus lunatus
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5503	"" []	195492	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Cochliobolus lunatus
NCBITaxon:5507	\N	\N	"" []	NCBITaxon:5507	"" []	72611	\N	\N	ncbi_taxonomy	0	EFO	Fusarium oxysporum	Fusarium oxysporum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5507	"" []	195493	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Fusarium oxysporum
NCBITaxon:55096	\N	\N	"" []	NCBITaxon:55096	"" []	72612	\N	\N	ncbi_taxonomy	0	EFO	Ippy virus	Ippy virus
NCBITaxon:10239	NCBITaxon:55096	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:55096	"" []	225993	\N	\N	ncbi_taxonomy	1	EFO	Virus	Ippy virus
NCBITaxon:55097	\N	\N	"" []	NCBITaxon:55097	"" []	72613	\N	\N	ncbi_taxonomy	0	EFO	Mobala virus	Mobala virus
NCBITaxon:10239	NCBITaxon:55097	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:55097	"" []	225994	\N	\N	ncbi_taxonomy	1	EFO	Virus	Mobala virus
NCBITaxon:5514	\N	\N	"" []	NCBITaxon:5514	"" []	72614	\N	\N	ncbi_taxonomy	0	EFO	Fusarium sporotrichioides	Fusarium sporotrichioides
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5514	"" []	195494	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Fusarium sporotrichioides
NCBITaxon:55173	\N	\N	"" []	NCBITaxon:55173	"" []	72615	\N	\N	ncbi_taxonomy	0	EFO	Leptosphaerulina chartarum	Leptosphaerulina chartarum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:55173	"" []	195495	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Leptosphaerulina chartarum
NCBITaxon:5518	\N	\N	"Fusarium graminearum (teleomorph Gibberella zeae) is a plant pathogen which causes fusarium head blight and affects many cereal crops." []	NCBITaxon:5518	"Fusarium graminearum (teleomorph Gibberella zeae) is a plant pathogen which causes fusarium head blight and affects many cereal crops." []	72616	\N	\N	ncbi_taxonomy	0	EFO	Fusarium graminearum	Fusarium graminearum
NCBITaxon:5506	\N	\N	"Fusarium is a large genus of filamentous fungi, part of a group often referred to as hyphomycetes, widely distributed in soil and associated with plants." []	NCBITaxon:5518	"Fusarium graminearum (teleomorph Gibberella zeae) is a plant pathogen which causes fusarium head blight and affects many cereal crops." []	195496	\N	\N	ncbi_taxonomy	0	EFO	Fusarium {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	Fusarium graminearum
NCBITaxon:552	\N	\N	"" []	NCBITaxon:552	"" []	72617	\N	\N	ncbi_taxonomy	0	EFO	Erwinia amylovora	Erwinia amylovora
NCBITaxon:2	NCBITaxon:552	\N	"" []	NCBITaxon:552	"" []	225995	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Erwinia amylovora
NCBITaxon:55205	\N	\N	"" []	NCBITaxon:55205	"" []	72618	\N	\N	ncbi_taxonomy	0	EFO	Caldicellulosiruptor owensensis	Caldicellulosiruptor owensensis
NCBITaxon:2	NCBITaxon:55205	\N	"" []	NCBITaxon:55205	"" []	225996	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Caldicellulosiruptor owensensis
NCBITaxon:552467	\N	\N	"" []	NCBITaxon:552467	"" []	72619	\N	\N	ncbi_taxonomy	0	EFO	Cryptococcus gattii	Cryptococcus gattii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:552467	"" []	195497	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cryptococcus gattii
NCBITaxon:5529	\N	\N	"" []	NCBITaxon:5529	"" []	72620	\N	\N	ncbi_taxonomy	0	EFO	Metarhizium	Metarhizium
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5529	"" []	195498	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Metarhizium
NCBITaxon:5530	\N	\N	"" []	NCBITaxon:5530	"" []	72621	\N	\N	ncbi_taxonomy	0	EFO	Metarhizium anisopliae	Metarhizium anisopliae
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5530	"" []	195499	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Metarhizium anisopliae
NCBITaxon:55313	\N	\N	"" []	NCBITaxon:55313	"" []	72622	\N	\N	ncbi_taxonomy	0	EFO	Elodea nuttallii	Elodea nuttallii
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:55313	"" []	195500	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Elodea nuttallii
NCBITaxon:554	\N	\N	"" []	NCBITaxon:554	"" []	72623	\N	\N	ncbi_taxonomy	0	EFO	Pectobacterium carotovorum	Pectobacterium carotovorum
NCBITaxon:2	NCBITaxon:554	\N	"" []	NCBITaxon:554	"" []	225997	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pectobacterium carotovorum
NCBITaxon:5544	\N	\N	"Trichoderma harzianum is fungus widely recognized as a potential biocontrol agent against several soilborne plant pathogens." []	NCBITaxon:5544	"Trichoderma harzianum is fungus widely recognized as a potential biocontrol agent against several soilborne plant pathogens." []	72624	\N	\N	ncbi_taxonomy	0	EFO	Trichoderma harzianum	Trichoderma harzianum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5544	"Trichoderma harzianum is fungus widely recognized as a potential biocontrol agent against several soilborne plant pathogens." []	195501	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Trichoderma harzianum
NCBITaxon:5551	\N	\N	"" []	NCBITaxon:5551	"" []	72626	\N	\N	ncbi_taxonomy	0	EFO	Trichophyton rubrum	Trichophyton rubrum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5551	"" []	195503	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Trichophyton rubrum
NCBITaxon:55583	\N	\N	"" []	NCBITaxon:55583	"" []	72627	\N	\N	ncbi_taxonomy	0	EFO	Dehalobacter restrictus	Dehalobacter restrictus
NCBITaxon:2	NCBITaxon:55583	\N	"" []	NCBITaxon:55583	"" []	225998	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Dehalobacter restrictus
NCBITaxon:556	\N	\N	"" []	NCBITaxon:556	"" []	72628	\N	\N	ncbi_taxonomy	0	EFO	Erwinia chrysanthemi	Erwinia chrysanthemi
NCBITaxon:2	NCBITaxon:556	\N	"" []	NCBITaxon:556	"" []	225999	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Erwinia chrysanthemi
NCBITaxon:556182	\N	\N	"" []	NCBITaxon:556182	"" []	72629	\N	\N	ncbi_taxonomy	0	EFO	freshwater sediment metagenome	freshwater sediment metagenome
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:556182	"" []	195504	\N	\N	ncbi_taxonomy	0	EFO	organism	freshwater sediment metagenome
NCBITaxon:559292	\N	\N	"" []	NCBITaxon:559292	"" []	72631	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces cerevisiae S288c	Saccharomyces cerevisiae S288c
NCBITaxon:4932	NCBITaxon:559292	\N	"" []	NCBITaxon:559292	"" []	226000	\N	\N	ncbi_taxonomy	1	EFO	Saccharomyces cerevisiae	Saccharomyces cerevisiae S288c
NCBITaxon:5599	\N	\N	"" []	NCBITaxon:5599	"" []	72632	\N	\N	ncbi_taxonomy	0	EFO	Alternaria alternata	Alternaria alternata
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:5599	"" []	195505	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Alternaria alternata
NCBITaxon:561307	\N	\N	"" []	NCBITaxon:561307	"" []	72633	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus aureus subsp. aureus RN4220	Staphylococcus aureus subsp. aureus RN4220
NCBITaxon:2	NCBITaxon:561307	\N	"" []	NCBITaxon:561307	"" []	226001	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus aureus subsp. aureus RN4220
NCBITaxon:562	\N	\N	"" []	NCBITaxon:562	"" []	72634	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli	Escherichia coli
NCBITaxon:2	NCBITaxon:562	\N	"" []	NCBITaxon:562	"" []	226002	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli
NCBITaxon:56364	\N	\N	"" []	NCBITaxon:56364	"" []	72635	\N	\N	ncbi_taxonomy	0	EFO	Agrotis ipsilon	Agrotis ipsilon
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:56364	"" []	195506	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Agrotis ipsilon
NCBITaxon:564	\N	\N	"" []	NCBITaxon:564	"" []	72636	\N	\N	ncbi_taxonomy	0	EFO	Escherichia fergusonii	Escherichia fergusonii
NCBITaxon:2	NCBITaxon:564	\N	"" []	NCBITaxon:564	"" []	226003	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia fergusonii
NCBITaxon:565050	\N	\N	"" []	NCBITaxon:565050	"" []	72637	\N	\N	ncbi_taxonomy	0	EFO	Caulobacter crescentus NA1000	Caulobacter crescentus NA1000
NCBITaxon:2	NCBITaxon:565050	\N	"" []	NCBITaxon:565050	"" []	226004	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Caulobacter crescentus NA1000
NCBITaxon:5660	\N	\N	"" []	NCBITaxon:5660	"" []	72638	\N	\N	ncbi_taxonomy	0	EFO	Leishmania braziliensis	Leishmania braziliensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5660	"" []	195507	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Leishmania braziliensis
NCBITaxon:5661	\N	\N	"" []	NCBITaxon:5661	"" []	72639	\N	\N	ncbi_taxonomy	0	EFO	Leishmania donovani	Leishmania donovani
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5661	"" []	195508	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Leishmania donovani
NCBITaxon:56615	\N	\N	"" []	NCBITaxon:56615	"" []	72640	\N	\N	ncbi_taxonomy	0	EFO	Puccinia graminis f. sp. tritici	Puccinia graminis f. sp. tritici
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:56615	"" []	195509	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Puccinia graminis f. sp. tritici
NCBITaxon:5664	\N	\N	"" []	NCBITaxon:5664	"" []	72641	\N	\N	ncbi_taxonomy	0	EFO	Leishmania major	Leishmania major
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5664	"" []	195510	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Leishmania major
NCBITaxon:56641	\N	\N	"" []	NCBITaxon:56641	"" []	72642	\N	\N	ncbi_taxonomy	0	EFO	Fusarium cerealis	Fusarium cerealis
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:56641	"" []	195511	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Fusarium cerealis
NCBITaxon:5665	\N	\N	"" []	NCBITaxon:5665	"" []	72643	\N	\N	ncbi_taxonomy	0	EFO	Leishmania mexicana	Leishmania mexicana
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5665	"" []	195512	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Leishmania mexicana
NCBITaxon:5671	\N	\N	"" []	NCBITaxon:5671	"" []	72644	\N	\N	ncbi_taxonomy	0	EFO	Leishmania infantum	Leishmania infantum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5671	"" []	195513	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Leishmania infantum
NCBITaxon:568703	\N	\N	"" []	NCBITaxon:568703	"" []	72645	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus rhamnosus GG	Lactobacillus rhamnosus GG
NCBITaxon:2	NCBITaxon:568703	\N	"" []	NCBITaxon:568703	"" []	226005	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus rhamnosus GG
NCBITaxon:5689	\N	\N	"" []	NCBITaxon:5689	"" []	72646	\N	\N	ncbi_taxonomy	0	EFO	Leishmania tarentolae	Leishmania tarentolae
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5689	"" []	195514	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Leishmania tarentolae
NCBITaxon:5691	\N	\N	"" []	NCBITaxon:5691	"" []	72647	\N	\N	ncbi_taxonomy	0	EFO	Trypanosoma brucei	Trypanosoma brucei
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5691	"" []	195515	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Trypanosoma brucei
NCBITaxon:5693	\N	\N	"" []	NCBITaxon:5693	"" []	72648	\N	\N	ncbi_taxonomy	0	EFO	Trypanosoma cruzi	Trypanosoma cruzi
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5693	"" []	195516	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Trypanosoma cruzi
NCBITaxon:5699	\N	\N	"" []	NCBITaxon:5699	"" []	72649	\N	\N	ncbi_taxonomy	0	EFO	Trypanosoma vivax	Trypanosoma vivax
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5699	"" []	195517	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Trypanosoma vivax
NCBITaxon:5702	\N	\N	"" []	NCBITaxon:5702	"" []	72650	\N	\N	ncbi_taxonomy	0	EFO	Trypanosoma brucei brucei	Trypanosoma brucei brucei
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5702	"" []	195518	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Trypanosoma brucei brucei
NCBITaxon:57045	\N	\N	"" []	NCBITaxon:57045	"" []	72651	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Paratyphi B	Salmonella enterica subsp. enterica serovar Paratyphi B
NCBITaxon:2	NCBITaxon:57045	\N	"" []	NCBITaxon:57045	"" []	226006	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Paratyphi B
NCBITaxon:57046	\N	\N	"" []	NCBITaxon:57046	"" []	72652	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Paratyphi C	Salmonella enterica subsp. enterica serovar Paratyphi C
NCBITaxon:2	NCBITaxon:57046	\N	"" []	NCBITaxon:57046	"" []	226007	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Paratyphi C
NCBITaxon:570508	\N	\N	"" []	NCBITaxon:570508	"" []	72653	\N	\N	ncbi_taxonomy	0	EFO	Helicobacter pylori P12	Helicobacter pylori P12
NCBITaxon:2	NCBITaxon:570508	\N	"" []	NCBITaxon:570508	"" []	226008	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Helicobacter pylori P12
NCBITaxon:57161	\N	\N	"" []	NCBITaxon:57161	"" []	72654	\N	\N	ncbi_taxonomy	0	EFO	Nectria rigidiuscula	Nectria rigidiuscula
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:57161	"" []	195519	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Nectria rigidiuscula
NCBITaxon:5722	\N	\N	"" []	NCBITaxon:5722	"" []	72655	\N	\N	ncbi_taxonomy	0	EFO	Trichomonas vaginalis	Trichomonas vaginalis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5722	"" []	195520	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Trichomonas vaginalis
NCBITaxon:573	\N	\N	"" []	NCBITaxon:573	"" []	72656	\N	\N	ncbi_taxonomy	0	EFO	Klebsiella pneumoniae	Klebsiella pneumoniae
NCBITaxon:2	NCBITaxon:573	\N	"" []	NCBITaxon:573	"" []	226009	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Klebsiella pneumoniae
NCBITaxon:57329	\N	\N	"" []	NCBITaxon:57329	"" []	72657	\N	\N	ncbi_taxonomy	0	EFO	Piriqueta cistoides subsp. caroliniana	Piriqueta cistoides subsp. caroliniana
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:57329	"" []	195521	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Piriqueta cistoides subsp. caroliniana
NCBITaxon:5741	\N	\N	"" []	NCBITaxon:5741	"" []	72658	\N	\N	ncbi_taxonomy	0	EFO	Giardia intestinalis	Giardia intestinalis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5741	"" []	195522	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Giardia intestinalis
NCBITaxon:57482	\N	\N	"" []	NCBITaxon:57482	"" []	72659	\N	\N	ncbi_taxonomy	0	EFO	European bat lyssavirus 1	European bat lyssavirus 1
NCBITaxon:10239	NCBITaxon:57482	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:57482	"" []	226010	\N	\N	ncbi_taxonomy	1	EFO	Virus	European bat lyssavirus 1
NCBITaxon:57483	\N	\N	"" []	NCBITaxon:57483	"" []	72660	\N	\N	ncbi_taxonomy	0	EFO	European bat lyssavirus 2	European bat lyssavirus 2
NCBITaxon:10239	NCBITaxon:57483	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:57483	"" []	226011	\N	\N	ncbi_taxonomy	1	EFO	Virus	European bat lyssavirus 2
NCBITaxon:5759	\N	\N	"" []	NCBITaxon:5759	"" []	72661	\N	\N	ncbi_taxonomy	0	EFO	Entamoeba histolytica	Entamoeba histolytica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5759	"" []	195523	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Entamoeba histolytica
NCBITaxon:5762	\N	\N	"" []	NCBITaxon:5762	"" []	72662	\N	\N	ncbi_taxonomy	0	EFO	Naegleria gruberi	Naegleria gruberi
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5762	"" []	195524	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Naegleria gruberi
NCBITaxon:57678	\N	\N	"" []	NCBITaxon:57678	"" []	72663	\N	\N	ncbi_taxonomy	0	EFO	Leptospira interrogans serovar Lai	Leptospira interrogans serovar Lai
NCBITaxon:2	NCBITaxon:57678	\N	"" []	NCBITaxon:57678	"" []	226012	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Leptospira interrogans serovar Lai
NCBITaxon:5786	\N	\N	"" []	NCBITaxon:5786	"" []	72664	\N	\N	ncbi_taxonomy	0	EFO	Dictyostelium purpureum	Dictyostelium purpureum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5786	"" []	195525	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Dictyostelium purpureum
NCBITaxon:5791	\N	\N	"" []	NCBITaxon:5791	"" []	72665	\N	\N	ncbi_taxonomy	0	EFO	Physarum polycephalum	Physarum polycephalum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5791	"" []	195526	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Physarum polycephalum
NCBITaxon:57975	\N	\N	"" []	NCBITaxon:57975	"" []	72666	\N	\N	ncbi_taxonomy	0	EFO	Burkholderia thailandensis	Burkholderia thailandensis
NCBITaxon:2	NCBITaxon:57975	\N	"" []	NCBITaxon:57975	"" []	226013	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Burkholderia thailandensis
NCBITaxon:58031	\N	\N	"" []	NCBITaxon:58031	"" []	72667	\N	\N	ncbi_taxonomy	0	EFO	Cycas rumphii	Cycas rumphii
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:58031	"" []	195527	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Cycas rumphii
NCBITaxon:58095	\N	\N	"" []	NCBITaxon:58095	"" []	72668	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Agona	Salmonella enterica subsp. enterica serovar Agona
NCBITaxon:2	NCBITaxon:58095	\N	"" []	NCBITaxon:58095	"" []	226014	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Agona
NCBITaxon:5811	\N	\N	"" []	NCBITaxon:5811	"" []	72669	\N	\N	ncbi_taxonomy	0	EFO	Toxoplasma gondii	Toxoplasma gondii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5811	"" []	195528	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Toxoplasma gondii
NCBITaxon:5821	\N	\N	"" []	NCBITaxon:5821	"" []	72670	\N	\N	ncbi_taxonomy	0	EFO	Plasmodium berghei	Plasmodium berghei
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5821	"" []	195529	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Plasmodium berghei
NCBITaxon:5833	\N	\N	"" []	NCBITaxon:5833	"" []	72671	\N	\N	ncbi_taxonomy	0	EFO	Plasmodium falciparum	Plasmodium falciparum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5833	"" []	195530	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Plasmodium falciparum
NCBITaxon:584	\N	\N	"" []	NCBITaxon:584	"" []	72672	\N	\N	ncbi_taxonomy	0	EFO	Proteus mirabilis	Proteus mirabilis
NCBITaxon:2	NCBITaxon:584	\N	"" []	NCBITaxon:584	"" []	226015	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Proteus mirabilis
NCBITaxon:5850	\N	\N	"" []	NCBITaxon:5850	"" []	72673	\N	\N	ncbi_taxonomy	0	EFO	Plasmodium knowlesi	Plasmodium knowlesi
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5850	"" []	195531	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Plasmodium knowlesi
NCBITaxon:5855	\N	\N	"" []	NCBITaxon:5855	"" []	72674	\N	\N	ncbi_taxonomy	0	EFO	Plasmodium vivax	Plasmodium vivax
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5855	"" []	195532	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Plasmodium vivax
NCBITaxon:5861	\N	\N	"" []	NCBITaxon:5861	"" []	72675	\N	\N	ncbi_taxonomy	0	EFO	Plasmodium yoelii	Plasmodium yoelii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5861	"" []	195533	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Plasmodium yoelii
NCBITaxon:5875	\N	\N	"" []	NCBITaxon:5875	"" []	72676	\N	\N	ncbi_taxonomy	0	EFO	Theileria parva	Theileria parva
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5875	"" []	195534	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Theileria parva
NCBITaxon:5888	\N	\N	"" []	NCBITaxon:5888	"" []	72677	\N	\N	ncbi_taxonomy	0	EFO	Paramecium tetraurelia	Paramecium tetraurelia
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5888	"" []	195535	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Paramecium tetraurelia
NCBITaxon:590	\N	\N	"" []	NCBITaxon:590	"" []	72678	\N	\N	ncbi_taxonomy	0	EFO	Salmonella	Salmonella
NCBITaxon:2	NCBITaxon:590	\N	"" []	NCBITaxon:590	"" []	226016	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella
NCBITaxon:5911	\N	\N	"" []	NCBITaxon:5911	"" []	72679	\N	\N	ncbi_taxonomy	0	EFO	Tetrahymena thermophila	Tetrahymena thermophila
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5911	"" []	195536	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Tetrahymena thermophila
NCBITaxon:59201	\N	\N	"" []	NCBITaxon:59201	"" []	72680	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica	Salmonella enterica subsp. enterica
NCBITaxon:2	NCBITaxon:59201	\N	"" []	NCBITaxon:59201	"" []	226017	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica
NCBITaxon:59207	\N	\N	"" []	NCBITaxon:59207	"" []	72681	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. indica	Salmonella enterica subsp. indica
NCBITaxon:2	NCBITaxon:59207	\N	"" []	NCBITaxon:59207	"" []	226018	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. indica
NCBITaxon:59312	\N	\N	"" []	NCBITaxon:59312	"" []	72682	\N	\N	ncbi_taxonomy	0	EFO	Sarcophaga crassipalpis	Sarcophaga crassipalpis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:59312	"" []	195537	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Sarcophaga crassipalpis
NCBITaxon:5932	\N	\N	"" []	NCBITaxon:5932	"" []	72683	\N	\N	ncbi_taxonomy	0	EFO	Ichthyophthirius multifiliis	Ichthyophthirius multifiliis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:5932	"" []	195538	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Ichthyophthirius multifiliis
NCBITaxon:594	\N	\N	"" []	NCBITaxon:594	"" []	72684	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Gallinarum	Salmonella enterica subsp. enterica serovar Gallinarum
NCBITaxon:2	NCBITaxon:594	\N	"" []	NCBITaxon:594	"" []	226019	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Gallinarum
NCBITaxon:595	\N	\N	"" []	NCBITaxon:595	"" []	72685	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Infantis	Salmonella enterica subsp. enterica serovar Infantis
NCBITaxon:2	NCBITaxon:595	\N	"" []	NCBITaxon:595	"" []	226020	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Infantis
NCBITaxon:596	\N	\N	"" []	NCBITaxon:596	"" []	72686	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Muenchen	Salmonella enterica subsp. enterica serovar Muenchen
NCBITaxon:2	NCBITaxon:596	\N	"" []	NCBITaxon:596	"" []	226021	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Muenchen
NCBITaxon:59689	\N	\N	"" []	NCBITaxon:59689	"" []	72687	\N	\N	ncbi_taxonomy	0	EFO	Arabidopsis lyrata	Arabidopsis lyrata
NCBITaxon:3701	NCBITaxon:59689	\N	"" []	NCBITaxon:59689	"" []	226022	\N	\N	ncbi_taxonomy	1	EFO	Arabidopsis	Arabidopsis lyrata
NCBITaxon:59691	\N	\N	"" []	NCBITaxon:59691	"" []	72688	\N	\N	ncbi_taxonomy	0	EFO	Arabidopsis lyrata subsp. petraea	Arabidopsis lyrata subsp. petraea
NCBITaxon:59689	NCBITaxon:59691	\N	"" []	NCBITaxon:59691	"" []	226023	\N	\N	ncbi_taxonomy	1	EFO	Arabidopsis lyrata	Arabidopsis lyrata subsp. petraea
NCBITaxon:3701	NCBITaxon:59689	\N	"" []	NCBITaxon:59691	"" []	582193	\N	\N	ncbi_taxonomy	2	EFO	Arabidopsis	Arabidopsis lyrata subsp. petraea
NCBITaxon:59729	\N	\N	"" []	NCBITaxon:59729	"" []	72689	\N	\N	ncbi_taxonomy	0	EFO	Taeniopygia guttata	Taeniopygia guttata
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:59729	"" []	195539	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Taeniopygia guttata
NCBITaxon:59861	\N	\N	"" []	NCBITaxon:59861	"" []	72690	\N	\N	ncbi_taxonomy	0	EFO	Coregonus clupeaformis	Coregonus clupeaformis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:59861	"" []	195540	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Coregonus clupeaformis
NCBITaxon:59919	\N	\N	"" []	NCBITaxon:59919	"" []	72691	\N	\N	ncbi_taxonomy	0	EFO	Prochlorococcus marinus subsp. pastoris str. CCMP1986	Prochlorococcus marinus subsp. pastoris str. CCMP1986
NCBITaxon:2	NCBITaxon:59919	\N	"" []	NCBITaxon:59919	"" []	226024	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Prochlorococcus marinus subsp. pastoris str. CCMP1986
NCBITaxon:600	\N	\N	"" []	NCBITaxon:600	"" []	72692	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Thompson	Salmonella enterica subsp. enterica serovar Thompson
NCBITaxon:2	NCBITaxon:600	\N	"" []	NCBITaxon:600	"" []	226025	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Thompson
NCBITaxon:60134	\N	\N	"" []	NCBITaxon:60134	"" []	72693	\N	\N	ncbi_taxonomy	0	EFO	Penicillium viridicatum	Penicillium viridicatum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:60134	"" []	195541	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Penicillium viridicatum
NCBITaxon:605	\N	\N	"" []	NCBITaxon:605	"" []	72694	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Pullorum	Salmonella enterica subsp. enterica serovar Pullorum
NCBITaxon:2	NCBITaxon:605	\N	"" []	NCBITaxon:605	"" []	226026	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Pullorum
NCBITaxon:60520	\N	\N	"" []	NCBITaxon:60520	"" []	72695	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus paraplantarum	Lactobacillus paraplantarum
NCBITaxon:2	NCBITaxon:60520	\N	"" []	NCBITaxon:60520	"" []	226027	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus paraplantarum
NCBITaxon:60711	\N	\N	"" []	NCBITaxon:60711	"" []	72696	\N	\N	ncbi_taxonomy	0	EFO	Chlorocebus sabaeus	Chlorocebus sabaeus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:60711	"" []	195542	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Chlorocebus sabaeus
NCBITaxon:611	\N	\N	"" []	NCBITaxon:611	"" []	72697	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Heidelberg	Salmonella enterica subsp. enterica serovar Heidelberg
NCBITaxon:2	NCBITaxon:611	\N	"" []	NCBITaxon:611	"" []	226028	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Heidelberg
NCBITaxon:61235	\N	\N	"" []	NCBITaxon:61235	"" []	72698	\N	\N	ncbi_taxonomy	0	EFO	Fusarium equiseti	Fusarium equiseti
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:61235	"" []	195543	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Fusarium equiseti
NCBITaxon:6131	\N	\N	"" []	NCBITaxon:6131	"" []	72699	\N	\N	ncbi_taxonomy	0	EFO	Acropora palmata	Acropora palmata
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6131	"" []	195544	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Acropora palmata
NCBITaxon:61362	\N	\N	"" []	NCBITaxon:61362	"" []	72700	\N	\N	ncbi_taxonomy	0	EFO	Acanthopleura	Acanthopleura
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:61362	"" []	195545	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Acanthopleura
NCBITaxon:61434	\N	\N	"" []	NCBITaxon:61434	"" []	72701	\N	\N	ncbi_taxonomy	0	EFO	Dehalococcoides	Dehalococcoides
NCBITaxon:2	NCBITaxon:61434	\N	"" []	NCBITaxon:61434	"" []	226029	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Dehalococcoides
NCBITaxon:6182	\N	\N	"" []	NCBITaxon:6182	"" []	72702	\N	\N	ncbi_taxonomy	0	EFO	Schistosoma japonicum	Schistosoma japonicum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6182	"" []	195546	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Schistosoma japonicum
NCBITaxon:6183	\N	\N	"" []	NCBITaxon:6183	"" []	72703	\N	\N	ncbi_taxonomy	0	EFO	Schistosoma mansoni	Schistosoma mansoni
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6183	"" []	195547	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Schistosoma mansoni
NCBITaxon:623	\N	\N	"" []	NCBITaxon:623	"" []	72704	\N	\N	ncbi_taxonomy	0	EFO	Shigella flexneri	Shigella flexneri
NCBITaxon:2	NCBITaxon:623	\N	"" []	NCBITaxon:623	"" []	226030	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Shigella flexneri
NCBITaxon:62324	\N	\N	"" []	NCBITaxon:62324	"" []	72705	\N	\N	ncbi_taxonomy	0	EFO	Anopheles funestus	Anopheles funestus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:62324	"" []	195548	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Anopheles funestus
NCBITaxon:6238	\N	\N	"" []	NCBITaxon:6238	"" []	72707	\N	\N	ncbi_taxonomy	0	EFO	Caenorhabditis briggsae	Caenorhabditis briggsae
NCBITaxon:6237	\N	\N	"" []	NCBITaxon:6238	"" []	195549	\N	\N	ncbi_taxonomy	0	EFO	Caenorhabditis	Caenorhabditis briggsae
NCBITaxon:6239	\N	\N	"" []	NCBITaxon:6239	"" []	72708	\N	\N	ncbi_taxonomy	0	EFO	Caenorhabditis elegans	Caenorhabditis elegans
NCBITaxon:6237	\N	\N	"" []	NCBITaxon:6239	"" []	195550	\N	\N	ncbi_taxonomy	0	EFO	Caenorhabditis	Caenorhabditis elegans
NCBITaxon:624	\N	\N	"" []	NCBITaxon:624	"" []	72709	\N	\N	ncbi_taxonomy	0	EFO	Shigella sonnei	Shigella sonnei
NCBITaxon:2	NCBITaxon:624	\N	"" []	NCBITaxon:624	"" []	226031	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Shigella sonnei
NCBITaxon:6279	\N	\N	"" []	NCBITaxon:6279	"" []	72711	\N	\N	ncbi_taxonomy	0	EFO	Brugia malayi	Brugia malayi
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6279	"" []	195551	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Brugia malayi
NCBITaxon:6280	\N	\N	"" []	NCBITaxon:6280	"" []	72712	\N	\N	ncbi_taxonomy	0	EFO	Brugia pahangi	Brugia pahangi
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6280	"" []	195552	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Brugia pahangi
NCBITaxon:6287	\N	\N	"" []	NCBITaxon:6287	"" []	72713	\N	\N	ncbi_taxonomy	0	EFO	Dirofilaria immitis	Dirofilaria immitis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6287	"" []	195553	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Dirofilaria immitis
NCBITaxon:6289	\N	\N	"" []	NCBITaxon:6289	"" []	72714	\N	\N	ncbi_taxonomy	0	EFO	Haemonchus contortus	Haemonchus contortus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6289	"" []	195554	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Haemonchus contortus
NCBITaxon:630	\N	\N	"" []	NCBITaxon:630	"" []	72715	\N	\N	ncbi_taxonomy	0	EFO	Yersinia enterocolitica	Yersinia enterocolitica
NCBITaxon:2	NCBITaxon:630	\N	"" []	NCBITaxon:630	"" []	226032	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Yersinia enterocolitica
NCBITaxon:632	\N	\N	"" []	NCBITaxon:632	"" []	72716	\N	\N	ncbi_taxonomy	0	EFO	Yersinia pestis	Yersinia pestis
NCBITaxon:2	NCBITaxon:632	\N	"" []	NCBITaxon:632	"" []	226033	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Yersinia pestis
NCBITaxon:633	\N	\N	"" []	NCBITaxon:633	"" []	72717	\N	\N	ncbi_taxonomy	0	EFO	Yersinia pseudotuberculosis	Yersinia pseudotuberculosis
NCBITaxon:2	NCBITaxon:633	\N	"" []	NCBITaxon:633	"" []	226034	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Yersinia pseudotuberculosis
NCBITaxon:63400	\N	\N	"" []	NCBITaxon:63400	"" []	72718	\N	\N	ncbi_taxonomy	0	EFO	Arthroderma benhamiae	Arthroderma benhamiae
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:63400	"" []	195555	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Arthroderma benhamiae
NCBITaxon:63402	\N	\N	"" []	NCBITaxon:63402	"" []	72719	\N	\N	ncbi_taxonomy	0	EFO	Arthroderma gypseum	Arthroderma gypseum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:63402	"" []	195556	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Arthroderma gypseum
NCBITaxon:63405	\N	\N	"" []	NCBITaxon:63405	"" []	72720	\N	\N	ncbi_taxonomy	0	EFO	Arthroderma otae	Arthroderma otae
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:63405	"" []	195557	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Arthroderma otae
NCBITaxon:63417	\N	\N	"" []	NCBITaxon:63417	"" []	72721	\N	\N	ncbi_taxonomy	0	EFO	Trichophyton verrucosum	Trichophyton verrucosum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:63417	"" []	195558	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Trichophyton verrucosum
NCBITaxon:63577	\N	\N	"" []	NCBITaxon:63577	"" []	72722	\N	\N	ncbi_taxonomy	0	EFO	Trichoderma atroviride	Trichoderma atroviride
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:63577	"" []	195559	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Trichoderma atroviride
NCBITaxon:6390	\N	\N	"" []	NCBITaxon:6390	"" []	72723	\N	\N	ncbi_taxonomy	0	EFO	Enchytraeus albidus	Enchytraeus albidus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6390	"" []	195560	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Enchytraeus albidus
NCBITaxon:6396	\N	\N	"" []	NCBITaxon:6396	"" []	72724	\N	\N	ncbi_taxonomy	0	EFO	Eisenia fetida	Eisenia fetida
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6396	"" []	195561	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Eisenia fetida
NCBITaxon:64091	\N	\N	"" []	NCBITaxon:64091	"" []	72725	\N	\N	ncbi_taxonomy	0	EFO	Halobacterium sp. NRC-1	Halobacterium sp. NRC-1
NCBITaxon:2157	NCBITaxon:64091	\N	"" []	NCBITaxon:64091	"" []	226035	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Halobacterium sp. NRC-1
NCBITaxon:64187	\N	\N	"" []	NCBITaxon:64187	"" []	72726	\N	\N	ncbi_taxonomy	0	EFO	Xanthomonas oryzae pv. oryzae	Xanthomonas oryzae pv. oryzae
NCBITaxon:2	NCBITaxon:64187	\N	"" []	NCBITaxon:64187	"" []	226036	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Xanthomonas oryzae pv. oryzae
NCBITaxon:64315	\N	\N	"" []	NCBITaxon:64315	"" []	72727	\N	\N	ncbi_taxonomy	0	EFO	Rocio virus	Rocio virus
NCBITaxon:10239	NCBITaxon:64315	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:64315	"" []	226037	\N	\N	ncbi_taxonomy	1	EFO	Virus	Rocio virus
NCBITaxon:64471	\N	\N	"" []	NCBITaxon:64471	"" []	72728	\N	\N	ncbi_taxonomy	0	EFO	Synechococcus sp. CC9311	Synechococcus sp. CC9311
NCBITaxon:2	NCBITaxon:64471	\N	"" []	NCBITaxon:64471	"" []	226038	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Synechococcus sp. CC9311
NCBITaxon:64531	\N	\N	"" []	NCBITaxon:64531	"" []	72729	\N	\N	ncbi_taxonomy	0	EFO	Heliconius erato petiverana	Heliconius erato petiverana
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:64531	"" []	195562	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Heliconius erato petiverana
NCBITaxon:64684	\N	\N	"" []	NCBITaxon:64684	"" []	72730	\N	\N	ncbi_taxonomy	0	EFO	Buchnera sp.	Buchnera sp.
NCBITaxon:2	NCBITaxon:64684	\N	"" []	NCBITaxon:64684	"" []	226039	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Buchnera sp.
NCBITaxon:6500	\N	\N	"" []	NCBITaxon:6500	"" []	72731	\N	\N	ncbi_taxonomy	0	EFO	Aplysia californica	Aplysia californica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6500	"" []	195563	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Aplysia californica
NCBITaxon:65016	\N	\N	"" []	NCBITaxon:65016	"" []	72732	\N	\N	ncbi_taxonomy	0	EFO	Cyanophage S-BnM1	Cyanophage S-BnM1
NCBITaxon:10239	NCBITaxon:65016	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:65016	"" []	226040	\N	\N	ncbi_taxonomy	1	EFO	Virus	Cyanophage S-BnM1
NCBITaxon:65071	\N	\N	"" []	NCBITaxon:65071	"" []	72733	\N	\N	ncbi_taxonomy	0	EFO	Pythium ultimum	Pythium ultimum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:65071	"" []	195564	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pythium ultimum
NCBITaxon:6526	\N	\N	"" []	NCBITaxon:6526	"" []	72734	\N	\N	ncbi_taxonomy	0	EFO	Biomphalaria glabrata	Biomphalaria glabrata
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6526	"" []	195565	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Biomphalaria glabrata
NCBITaxon:6549	\N	\N	"" []	NCBITaxon:6549	"" []	72735	\N	\N	ncbi_taxonomy	0	EFO	Mytilus californianus	Mytilus californianus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6549	"" []	195566	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Mytilus californianus
NCBITaxon:6551	\N	\N	"" []	NCBITaxon:6551	"" []	72736	\N	\N	ncbi_taxonomy	0	EFO	Mytilus trossulus	Mytilus trossulus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6551	"" []	195567	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Mytilus trossulus
NCBITaxon:6565	\N	\N	"" []	NCBITaxon:6565	"" []	72737	\N	\N	ncbi_taxonomy	0	EFO	Crassostrea virginica	Crassostrea virginica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6565	"" []	195568	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Crassostrea virginica
NCBITaxon:65672	\N	\N	"" []	NCBITaxon:65672	"" []	72738	\N	\N	ncbi_taxonomy	0	EFO	Piriformospora indica	Piriformospora indica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:65672	"" []	195569	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Piriformospora indica
NCBITaxon:65951	\N	\N	"" []	NCBITaxon:65951	"" []	72739	\N	\N	ncbi_taxonomy	0	EFO	Rorippa amphibia	Rorippa amphibia
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:65951	"" []	195570	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Rorippa amphibia
NCBITaxon:65952	\N	\N	"" []	NCBITaxon:65952	"" []	72740	\N	\N	ncbi_taxonomy	0	EFO	Rorippa sylvestris	Rorippa sylvestris
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:65952	"" []	195571	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Rorippa sylvestris
NCBITaxon:66269	\N	\N	"" []	NCBITaxon:66269	"" []	72741	\N	\N	ncbi_taxonomy	0	EFO	Pantoea stewartii	Pantoea stewartii
NCBITaxon:2	NCBITaxon:66269	\N	"" []	NCBITaxon:66269	"" []	226041	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pantoea stewartii
NCBITaxon:663	\N	\N	"" []	NCBITaxon:663	"" []	72742	\N	\N	ncbi_taxonomy	0	EFO	Vibrio alginolyticus	Vibrio alginolyticus
NCBITaxon:2	NCBITaxon:663	\N	"" []	NCBITaxon:663	"" []	226042	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Vibrio alginolyticus
NCBITaxon:666	\N	\N	"" []	NCBITaxon:666	"" []	72744	\N	\N	ncbi_taxonomy	0	EFO	Vibrio cholerae	Vibrio cholerae
NCBITaxon:2	NCBITaxon:666	\N	"" []	NCBITaxon:666	"" []	226043	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Vibrio cholerae
NCBITaxon:6669	\N	\N	"" []	NCBITaxon:6669	"" []	72745	\N	\N	ncbi_taxonomy	0	EFO	Daphnia pulex	Daphnia pulex
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6669	"" []	195572	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Daphnia pulex
NCBITaxon:6687	\N	\N	"" []	NCBITaxon:6687	"" []	72746	\N	\N	ncbi_taxonomy	0	EFO	Penaeus monodon	Penaeus monodon
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6687	"" []	195573	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Penaeus monodon
NCBITaxon:6689	\N	\N	"" []	NCBITaxon:6689	"" []	72747	\N	\N	ncbi_taxonomy	0	EFO	Litopenaeus vannamei	Litopenaeus vannamei
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6689	"" []	195574	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Litopenaeus vannamei
NCBITaxon:670	\N	\N	"" []	NCBITaxon:670	"" []	72748	\N	\N	ncbi_taxonomy	0	EFO	Vibrio parahaemolyticus	Vibrio parahaemolyticus
NCBITaxon:2	NCBITaxon:670	\N	"" []	NCBITaxon:670	"" []	226044	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Vibrio parahaemolyticus
NCBITaxon:672	\N	\N	"" []	NCBITaxon:672	"" []	72749	\N	\N	ncbi_taxonomy	0	EFO	Vibrio vulnificus	Vibrio vulnificus
NCBITaxon:2	NCBITaxon:672	\N	"" []	NCBITaxon:672	"" []	226045	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Vibrio vulnificus
NCBITaxon:67367	\N	\N	"" []	NCBITaxon:67367	"" []	72750	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces tanashiensis	Streptomyces tanashiensis
NCBITaxon:2	NCBITaxon:67367	\N	"" []	NCBITaxon:67367	"" []	226046	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces tanashiensis
NCBITaxon:6759	\N	\N	"" []	NCBITaxon:6759	"" []	72751	\N	\N	ncbi_taxonomy	0	EFO	Carcinus maenas	Carcinus maenas
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6759	"" []	195575	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Carcinus maenas
NCBITaxon:67593	\N	\N	"" []	NCBITaxon:67593	"" []	72752	\N	\N	ncbi_taxonomy	0	EFO	Phytophthora sojae	Phytophthora sojae
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:67593	"" []	195576	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Phytophthora sojae
NCBITaxon:67606	\N	\N	"" []	NCBITaxon:67606	"" []	72753	\N	\N	ncbi_taxonomy	0	EFO	Drechslera sp.	Drechslera sp.
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:67606	"" []	195577	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Drechslera sp.
NCBITaxon:67771	\N	\N	"" []	NCBITaxon:67771	"" []	72754	\N	\N	ncbi_taxonomy	0	EFO	Callipepla californica	Callipepla californica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:67771	"" []	195578	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Callipepla californica
NCBITaxon:67825	\N	\N	"" []	NCBITaxon:67825	"" []	72755	\N	\N	ncbi_taxonomy	0	EFO	Citrobacter rodentium	Citrobacter rodentium
NCBITaxon:2	NCBITaxon:67825	\N	"" []	NCBITaxon:67825	"" []	226047	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Citrobacter rodentium
NCBITaxon:6819	\N	\N	"" []	NCBITaxon:6819	"" []	72756	\N	\N	ncbi_taxonomy	0	EFO	Euphausia superba	Euphausia superba
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6819	"" []	195579	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Euphausia superba
NCBITaxon:68892	\N	\N	"" []	NCBITaxon:68892	"" []	72757	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus infantis	Streptococcus infantis
NCBITaxon:2	NCBITaxon:68892	\N	"" []	NCBITaxon:68892	"" []	226048	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus infantis
NCBITaxon:69293	\N	\N	"" []	NCBITaxon:69293	"" []	72758	\N	\N	ncbi_taxonomy	0	EFO	Gasterosteus aculeatus	Gasterosteus aculeatus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:69293	"" []	195580	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Gasterosteus aculeatus
NCBITaxon:6941	\N	\N	"" []	NCBITaxon:6941	"" []	72759	\N	\N	ncbi_taxonomy	0	EFO	Rhipicephalus microplus	Rhipicephalus microplus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6941	"" []	195581	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Rhipicephalus microplus
NCBITaxon:6943	\N	\N	"" []	NCBITaxon:6943	"" []	72760	\N	\N	ncbi_taxonomy	0	EFO	Amblyomma americanum	Amblyomma americanum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6943	"" []	195582	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Amblyomma americanum
NCBITaxon:6945	\N	\N	"" []	NCBITaxon:6945	"" []	72761	\N	\N	ncbi_taxonomy	0	EFO	Ixodes scapularis	Ixodes scapularis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:6945	"" []	195583	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Ixodes scapularis
NCBITaxon:69891	\N	\N	"" []	NCBITaxon:69891	"" []	72762	\N	\N	ncbi_taxonomy	0	EFO	Trichophyton soudanense	Trichophyton soudanense
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:69891	"" []	195584	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Trichophyton soudanense
NCBITaxon:69892	\N	\N	"" []	NCBITaxon:69892	"" []	72763	\N	\N	ncbi_taxonomy	0	EFO	Microsporum gallinae	Microsporum gallinae
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:69892	"" []	195585	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Microsporum gallinae
NCBITaxon:7004	\N	\N	"" []	NCBITaxon:7004	"" []	72764	\N	\N	ncbi_taxonomy	0	EFO	Locusta migratoria	Locusta migratoria
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7004	"" []	195586	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Locusta migratoria
NCBITaxon:70095	\N	\N	"" []	NCBITaxon:70095	"" []	72765	\N	\N	ncbi_taxonomy	0	EFO	Penicillium fellutanum	Penicillium fellutanum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:70095	"" []	195587	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Penicillium fellutanum
NCBITaxon:7010	\N	\N	"" []	NCBITaxon:7010	"" []	72766	\N	\N	ncbi_taxonomy	0	EFO	Schistocerca gregaria	Schistocerca gregaria
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7010	"" []	195588	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Schistocerca gregaria
NCBITaxon:7029	\N	\N	"" []	NCBITaxon:7029	"" []	72767	\N	\N	ncbi_taxonomy	0	EFO	Acyrthosiphon pisum	Acyrthosiphon pisum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7029	"" []	195589	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Acyrthosiphon pisum
NCBITaxon:7038	\N	\N	"" []	NCBITaxon:7038	"" []	72768	\N	\N	ncbi_taxonomy	0	EFO	Bemisia tabaci	Bemisia tabaci
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7038	"" []	195590	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Bemisia tabaci
NCBITaxon:70448	\N	\N	"" []	NCBITaxon:70448	"" []	72769	\N	\N	ncbi_taxonomy	0	EFO	Ostreococcus tauri	Ostreococcus tauri
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:70448	"" []	195591	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Ostreococcus tauri
NCBITaxon:7070	\N	\N	"" []	NCBITaxon:7070	"" []	72770	\N	\N	ncbi_taxonomy	0	EFO	Tribolium castaneum	Tribolium castaneum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7070	"" []	195592	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Tribolium castaneum
NCBITaxon:70784	\N	\N	"" []	NCBITaxon:70784	"" []	72771	\N	\N	ncbi_taxonomy	0	EFO	Julidochromis transcriptus	Julidochromis transcriptus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:70784	"" []	195593	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Julidochromis transcriptus
NCBITaxon:70792	\N	\N	"" []	NCBITaxon:70792	"" []	72772	\N	\N	ncbi_taxonomy	0	EFO	Penicillium corylophilum	Penicillium corylophilum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:70792	"" []	195594	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Penicillium corylophilum
NCBITaxon:70863	\N	\N	"" []	NCBITaxon:70863	"" []	72773	\N	\N	ncbi_taxonomy	0	EFO	Shewanella oneidensis	Shewanella oneidensis
NCBITaxon:2	NCBITaxon:70863	\N	"" []	NCBITaxon:70863	"" []	226049	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Shewanella oneidensis
NCBITaxon:7091	\N	\N	"" []	NCBITaxon:7091	"" []	72774	\N	\N	ncbi_taxonomy	0	EFO	Bombyx mori	Bombyx mori
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7091	"" []	195595	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Bombyx mori
NCBITaxon:7108	\N	\N	"" []	NCBITaxon:7108	"" []	72775	\N	\N	ncbi_taxonomy	0	EFO	Spodoptera frugiperda	Spodoptera frugiperda
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7108	"" []	195596	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Spodoptera frugiperda
NCBITaxon:71139	\N	\N	"" []	NCBITaxon:71139	"" []	72776	\N	\N	ncbi_taxonomy	0	EFO	Eucalyptus grandis	Eucalyptus grandis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:71139	"" []	195597	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Eucalyptus grandis
NCBITaxon:71150	\N	\N	"" []	NCBITaxon:71150	"" []	72777	\N	\N	ncbi_taxonomy	0	EFO	Paxillus involutus	Paxillus involutus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:71150	"" []	195598	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Paxillus involutus
NCBITaxon:7130	\N	\N	"" []	NCBITaxon:7130	"" []	72778	\N	\N	ncbi_taxonomy	0	EFO	Manduca sexta	Manduca sexta
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7130	"" []	195599	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Manduca sexta
NCBITaxon:714	\N	\N	"" []	NCBITaxon:714	"" []	72779	\N	\N	ncbi_taxonomy	0	EFO	Aggregatibacter actinomycetemcomitans	Aggregatibacter actinomycetemcomitans
NCBITaxon:2	NCBITaxon:714	\N	"" []	NCBITaxon:714	"" []	226050	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Aggregatibacter actinomycetemcomitans
NCBITaxon:7141	\N	\N	"" []	NCBITaxon:7141	"" []	72780	\N	\N	ncbi_taxonomy	0	EFO	Choristoneura fumiferana	Choristoneura fumiferana
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7141	"" []	195600	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Choristoneura fumiferana
NCBITaxon:71412	\N	\N	"" []	NCBITaxon:71412	"" []	72781	\N	\N	ncbi_taxonomy	0	EFO	Fenneropenaeus merguiensis	Fenneropenaeus merguiensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:71412	"" []	195601	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Fenneropenaeus merguiensis
NCBITaxon:715	\N	\N	"" []	NCBITaxon:715	"" []	72782	\N	\N	ncbi_taxonomy	0	EFO	Actinobacillus pleuropneumoniae	Actinobacillus pleuropneumoniae
NCBITaxon:2	NCBITaxon:715	\N	"" []	NCBITaxon:715	"" []	226051	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Actinobacillus pleuropneumoniae
NCBITaxon:7159	\N	\N	"" []	NCBITaxon:7159	"" []	72783	\N	\N	ncbi_taxonomy	0	EFO	Aedes aegypti	Aedes aegypti
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7159	"" []	195602	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Aedes aegypti
NCBITaxon:7160	\N	\N	"" []	NCBITaxon:7160	"" []	72784	\N	\N	ncbi_taxonomy	0	EFO	Aedes albopictus	Aedes albopictus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7160	"" []	195603	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Aedes albopictus
NCBITaxon:71647	\N	\N	"" []	NCBITaxon:71647	"" []	72785	\N	\N	ncbi_taxonomy	0	EFO	Pinus pinaster	Pinus pinaster
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:71647	"" []	195604	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Pinus pinaster
NCBITaxon:7165	\N	\N	"" []	NCBITaxon:7165	"" []	72786	\N	\N	ncbi_taxonomy	0	EFO	Anopheles gambiae	Anopheles gambiae
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7165	"" []	195605	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Anopheles gambiae
NCBITaxon:7173	\N	\N	"" []	NCBITaxon:7173	"" []	72787	\N	\N	ncbi_taxonomy	0	EFO	Anopheles arabiensis	Anopheles arabiensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7173	"" []	195606	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Anopheles arabiensis
NCBITaxon:7176	\N	\N	"" []	NCBITaxon:7176	"" []	72788	\N	\N	ncbi_taxonomy	0	EFO	Culex quinquefasciatus	Culex quinquefasciatus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7176	"" []	195607	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Culex quinquefasciatus
NCBITaxon:72036	\N	\N	"" []	NCBITaxon:72036	"" []	72789	\N	\N	ncbi_taxonomy	0	EFO	Lepeophtheirus salmonis	Lepeophtheirus salmonis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:72036	"" []	195608	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Lepeophtheirus salmonis
NCBITaxon:72085	\N	\N	"" []	NCBITaxon:72085	"" []	72790	\N	\N	ncbi_taxonomy	0	EFO	Sebastes melanops	Sebastes melanops
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:72085	"" []	195609	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Sebastes melanops
NCBITaxon:7213	\N	\N	"" []	NCBITaxon:7213	"" []	72791	\N	\N	ncbi_taxonomy	0	EFO	Ceratitis capitata	Ceratitis capitata
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7213	"" []	195610	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Ceratitis capitata
NCBITaxon:7215	\N	\N	"" []	NCBITaxon:7215	"" []	72792	\N	\N	ncbi_taxonomy	0	EFO	Drosophila	Drosophila
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7215	"" []	195611	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Drosophila
NCBITaxon:7217	\N	\N	"" []	NCBITaxon:7217	"" []	72793	\N	\N	ncbi_taxonomy	0	EFO	Drosophila ananassae	Drosophila ananassae
NCBITaxon:7215	NCBITaxon:7217	\N	"" []	NCBITaxon:7217	"" []	226052	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila ananassae
NCBITaxon:7220	\N	\N	"" []	NCBITaxon:7220	"" []	72794	\N	\N	ncbi_taxonomy	0	EFO	Drosophila erecta	Drosophila erecta
NCBITaxon:7215	NCBITaxon:7220	\N	"" []	NCBITaxon:7220	"" []	226053	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila erecta
NCBITaxon:7226	\N	\N	"" []	NCBITaxon:7226	"" []	72795	\N	\N	ncbi_taxonomy	0	EFO	Drosophila mauritiana	Drosophila mauritiana
NCBITaxon:7215	NCBITaxon:7226	\N	"" []	NCBITaxon:7226	"" []	226054	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila mauritiana
NCBITaxon:7227	\N	\N	"" []	NCBITaxon:7227	"" []	72796	\N	\N	ncbi_taxonomy	0	EFO	Drosophila melanogaster	Drosophila melanogaster
NCBITaxon:7215	NCBITaxon:7227	\N	"" []	NCBITaxon:7227	"" []	226055	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila melanogaster
NCBITaxon:7230	\N	\N	"" []	NCBITaxon:7230	"" []	72797	\N	\N	ncbi_taxonomy	0	EFO	Drosophila mojavensis	Drosophila mojavensis
NCBITaxon:7215	NCBITaxon:7230	\N	"" []	NCBITaxon:7230	"" []	226056	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila mojavensis
NCBITaxon:7234	\N	\N	"" []	NCBITaxon:7234	"" []	72798	\N	\N	ncbi_taxonomy	0	EFO	Drosophila persimilis	Drosophila persimilis
NCBITaxon:7215	NCBITaxon:7234	\N	"" []	NCBITaxon:7234	"" []	226057	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila persimilis
NCBITaxon:7237	\N	\N	"" []	NCBITaxon:7237	"" []	72799	\N	\N	ncbi_taxonomy	0	EFO	Drosophila pseudoobscura	Drosophila pseudoobscura
NCBITaxon:7215	NCBITaxon:7237	\N	"" []	NCBITaxon:7237	"" []	226058	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila pseudoobscura
NCBITaxon:7238	\N	\N	"" []	NCBITaxon:7238	"" []	72800	\N	\N	ncbi_taxonomy	0	EFO	Drosophila sechellia	Drosophila sechellia
NCBITaxon:7215	NCBITaxon:7238	\N	"" []	NCBITaxon:7238	"" []	226059	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila sechellia
NCBITaxon:7240	\N	\N	"" []	NCBITaxon:7240	"" []	72801	\N	\N	ncbi_taxonomy	0	EFO	Drosophila simulans	Drosophila simulans
NCBITaxon:7215	NCBITaxon:7240	\N	"" []	NCBITaxon:7240	"" []	226060	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila simulans
NCBITaxon:7243	\N	\N	"" []	NCBITaxon:7243	"" []	72802	\N	\N	ncbi_taxonomy	0	EFO	Drosophila teissieri	Drosophila teissieri
NCBITaxon:7215	NCBITaxon:7243	\N	"" []	NCBITaxon:7243	"" []	226061	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila teissieri
NCBITaxon:7244	\N	\N	"" []	NCBITaxon:7244	"" []	72803	\N	\N	ncbi_taxonomy	0	EFO	Drosophila virilis	Drosophila virilis
NCBITaxon:7215	NCBITaxon:7244	\N	"" []	NCBITaxon:7244	"" []	226062	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila virilis
NCBITaxon:7245	\N	\N	"" []	NCBITaxon:7245	"" []	72804	\N	\N	ncbi_taxonomy	0	EFO	Drosophila yakuba	Drosophila yakuba
NCBITaxon:7215	NCBITaxon:7245	\N	"" []	NCBITaxon:7245	"" []	226063	\N	\N	ncbi_taxonomy	1	EFO	Drosophila	Drosophila yakuba
NCBITaxon:72600	\N	\N	"" []	NCBITaxon:72600	"" []	72805	\N	\N	ncbi_taxonomy	0	EFO	Calyptogena kilmeri gill symbiont	Calyptogena kilmeri gill symbiont
NCBITaxon:2	NCBITaxon:72600	\N	"" []	NCBITaxon:72600	"" []	226064	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Calyptogena kilmeri gill symbiont
NCBITaxon:72603	\N	\N	"" []	NCBITaxon:72603	"" []	72806	\N	\N	ncbi_taxonomy	0	EFO	Calyptogena pacifica gill symbiont	Calyptogena pacifica gill symbiont
NCBITaxon:2	NCBITaxon:72603	\N	"" []	NCBITaxon:72603	"" []	226065	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Calyptogena pacifica gill symbiont
NCBITaxon:727	\N	\N	"" []	NCBITaxon:727	"" []	72807	\N	\N	ncbi_taxonomy	0	EFO	Haemophilus influenzae	Haemophilus influenzae
NCBITaxon:2	NCBITaxon:727	\N	"" []	NCBITaxon:727	"" []	226066	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Haemophilus influenzae
NCBITaxon:730	\N	\N	"" []	NCBITaxon:730	"" []	72809	\N	\N	ncbi_taxonomy	0	EFO	Haemophilus ducreyi	Haemophilus ducreyi
NCBITaxon:2	NCBITaxon:730	\N	"" []	NCBITaxon:730	"" []	226067	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Haemophilus ducreyi
NCBITaxon:731	\N	\N	"" []	NCBITaxon:731	"" []	72810	\N	\N	ncbi_taxonomy	0	EFO	Histophilus somni	Histophilus somni
NCBITaxon:2	NCBITaxon:731	\N	"" []	NCBITaxon:731	"" []	226068	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Histophilus somni
NCBITaxon:73501	\N	\N	"" []	NCBITaxon:73501	"" []	72811	\N	\N	ncbi_taxonomy	0	EFO	Cordyceps militaris	Cordyceps militaris
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:73501	"" []	195612	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Cordyceps militaris
NCBITaxon:7368	\N	\N	"" []	NCBITaxon:7368	"" []	72812	\N	\N	ncbi_taxonomy	0	EFO	Haematobia irritans	Haematobia irritans
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7368	"" []	195613	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Haematobia irritans
NCBITaxon:73824	\N	\N	"" []	NCBITaxon:73824	"" []	72813	\N	\N	ncbi_taxonomy	0	EFO	Populus balsamifera	Populus balsamifera
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:73824	"" []	195614	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus balsamifera
NCBITaxon:74035	\N	\N	"" []	NCBITaxon:74035	"" []	72814	\N	\N	ncbi_taxonomy	0	EFO	Arthroderma uncinatum	Arthroderma uncinatum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:74035	"" []	195615	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Arthroderma uncinatum
NCBITaxon:74109	\N	\N	"" []	NCBITaxon:74109	"" []	72815	\N	\N	ncbi_taxonomy	0	EFO	Photobacterium profundum	Photobacterium profundum
NCBITaxon:2	NCBITaxon:74109	\N	"" []	NCBITaxon:74109	"" []	226069	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Photobacterium profundum
NCBITaxon:7425	\N	\N	"" []	NCBITaxon:7425	"" []	72816	\N	\N	ncbi_taxonomy	0	EFO	Nasonia vitripennis	Nasonia vitripennis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7425	"" []	195616	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Nasonia vitripennis
NCBITaxon:74546	\N	\N	"" []	NCBITaxon:74546	"" []	72817	\N	\N	ncbi_taxonomy	0	EFO	Prochlorococcus marinus str. MIT 9312	Prochlorococcus marinus str. MIT 9312
NCBITaxon:2	NCBITaxon:74546	\N	"" []	NCBITaxon:74546	"" []	226070	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Prochlorococcus marinus str. MIT 9312
NCBITaxon:74547	\N	\N	"" []	NCBITaxon:74547	"" []	72818	\N	\N	ncbi_taxonomy	0	EFO	Prochlorococcus marinus str. MIT 9313	Prochlorococcus marinus str. MIT 9313
NCBITaxon:2	NCBITaxon:74547	\N	"" []	NCBITaxon:74547	"" []	226071	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Prochlorococcus marinus str. MIT 9313
NCBITaxon:7460	\N	\N	"" []	NCBITaxon:7460	"" []	72819	\N	\N	ncbi_taxonomy	0	EFO	Apis mellifera	Apis mellifera
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7460	"" []	195617	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Apis mellifera
NCBITaxon:7461	\N	\N	"" []	NCBITaxon:7461	"" []	72820	\N	\N	ncbi_taxonomy	0	EFO	Apis cerana	Apis cerana
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7461	"" []	195618	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Apis cerana
NCBITaxon:746128	\N	\N	"" []	NCBITaxon:746128	"" []	72821	\N	\N	ncbi_taxonomy	0	EFO	Aspergillus fumigatus	Aspergillus fumigatus
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:746128	"" []	195619	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Aspergillus fumigatus
NCBITaxon:7462	\N	\N	"" []	NCBITaxon:7462	"" []	72822	\N	\N	ncbi_taxonomy	0	EFO	Apis dorsata	Apis dorsata
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7462	"" []	195620	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Apis dorsata
NCBITaxon:7463	\N	\N	"" []	NCBITaxon:7463	"" []	72823	\N	\N	ncbi_taxonomy	0	EFO	Apis florea	Apis florea
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7463	"" []	195621	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Apis florea
NCBITaxon:74632	\N	\N	"" []	NCBITaxon:74632	"" []	72824	\N	\N	ncbi_taxonomy	0	EFO	Rosa gallica	Rosa gallica
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:74632	"" []	195622	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Rosa gallica
NCBITaxon:74648	\N	\N	"" []	NCBITaxon:74648	"" []	72825	\N	\N	ncbi_taxonomy	0	EFO	Rosa lucieae	Rosa lucieae
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:74648	"" []	195623	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Rosa lucieae
NCBITaxon:74649	\N	\N	"" []	NCBITaxon:74649	"" []	72826	\N	\N	ncbi_taxonomy	0	EFO	Rosa chinensis	Rosa chinensis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:74649	"" []	195624	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Rosa chinensis
NCBITaxon:7469	\N	\N	"" []	NCBITaxon:7469	"" []	72827	\N	\N	ncbi_taxonomy	0	EFO	Apis mellifera ligustica	Apis mellifera ligustica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7469	"" []	195625	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Apis mellifera ligustica
NCBITaxon:747	\N	\N	"" []	NCBITaxon:747	"" []	72828	\N	\N	ncbi_taxonomy	0	EFO	Pasteurella multocida	Pasteurella multocida
NCBITaxon:2	NCBITaxon:747	\N	"" []	NCBITaxon:747	"" []	226072	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Pasteurella multocida
NCBITaxon:74940	\N	\N	"" []	NCBITaxon:74940	"" []	72829	\N	\N	ncbi_taxonomy	0	EFO	Oncorhynchus tshawytscha	Oncorhynchus tshawytscha
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:74940	"" []	195626	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Oncorhynchus tshawytscha
NCBITaxon:75702	\N	\N	"" []	NCBITaxon:75702	"" []	72831	\N	\N	ncbi_taxonomy	0	EFO	Populus euphratica	Populus euphratica
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:75702	"" []	195628	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Populus euphratica
NCBITaxon:7653	\N	\N	"" []	NCBITaxon:7653	"" []	72832	\N	\N	ncbi_taxonomy	0	EFO	Lytechinus pictus	Lytechinus pictus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7653	"" []	195629	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Lytechinus pictus
NCBITaxon:7668	\N	\N	"" []	NCBITaxon:7668	"" []	72833	\N	\N	ncbi_taxonomy	0	EFO	Strongylocentrotus purpuratus	Strongylocentrotus purpuratus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7668	"" []	195630	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Strongylocentrotus purpuratus
NCBITaxon:76772	\N	\N	"" []	NCBITaxon:76772	"" []	72834	\N	\N	ncbi_taxonomy	0	EFO	Spermophilus lateralis	Spermophilus lateralis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:76772	"" []	195631	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Spermophilus lateralis
NCBITaxon:76912	\N	\N	"" []	NCBITaxon:76912	"" []	72835	\N	\N	ncbi_taxonomy	0	EFO	Zea mays subsp. parviglumis	Zea mays subsp. parviglumis
NCBITaxon:4577	NCBITaxon:76912	\N	"" []	NCBITaxon:76912	"" []	226073	\N	\N	ncbi_taxonomy	1	EFO	Zea mays	Zea mays subsp. parviglumis
NCBITaxon:77009	\N	\N	"" []	NCBITaxon:77009	"" []	72836	\N	\N	ncbi_taxonomy	0	EFO	Hordeum vulgare subsp. spontaneum	Hordeum vulgare subsp. spontaneum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:77009	"" []	195632	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Hordeum vulgare subsp. spontaneum
NCBITaxon:77108	\N	\N	"" []	NCBITaxon:77108	"" []	72837	\N	\N	ncbi_taxonomy	0	EFO	Nuphar advena	Nuphar advena
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:77108	"" []	195633	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Nuphar advena
NCBITaxon:77166	\N	\N	"" []	NCBITaxon:77166	"" []	72838	\N	\N	ncbi_taxonomy	0	EFO	Dendroctonus ponderosae	Dendroctonus ponderosae
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:77166	"" []	195634	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Dendroctonus ponderosae
NCBITaxon:7719	\N	\N	"" []	NCBITaxon:7719	"" []	72839	\N	\N	ncbi_taxonomy	0	EFO	Ciona intestinalis	Ciona intestinalis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7719	"" []	195635	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Ciona intestinalis
NCBITaxon:77205	\N	\N	"" []	NCBITaxon:77205	"" []	72840	\N	\N	ncbi_taxonomy	0	EFO	Microsporum ferrugineum	Microsporum ferrugineum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:77205	"" []	195636	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Microsporum ferrugineum
NCBITaxon:7741	\N	\N	"" []	NCBITaxon:7741	"" []	72841	\N	\N	ncbi_taxonomy	0	EFO	Branchiostoma belcheri	Branchiostoma belcheri
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7741	"" []	195637	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Branchiostoma belcheri
NCBITaxon:7757	\N	\N	"" []	NCBITaxon:7757	"" []	72842	\N	\N	ncbi_taxonomy	0	EFO	Petromyzon marinus	Petromyzon marinus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7757	"" []	195638	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Petromyzon marinus
NCBITaxon:777	\N	\N	"" []	NCBITaxon:777	"" []	72843	\N	\N	ncbi_taxonomy	0	EFO	Coxiella burnetii	Coxiella burnetii
NCBITaxon:2	NCBITaxon:777	\N	"" []	NCBITaxon:777	"" []	226074	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Coxiella burnetii
NCBITaxon:7782	\N	\N	"" []	NCBITaxon:7782	"" []	72844	\N	\N	ncbi_taxonomy	0	EFO	Leucoraja erinacea	Leucoraja erinacea
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7782	"" []	195639	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Leucoraja erinacea
NCBITaxon:781	\N	\N	"" []	NCBITaxon:781	"" []	72845	\N	\N	ncbi_taxonomy	0	EFO	Rickettsia conorii	Rickettsia conorii
NCBITaxon:2	NCBITaxon:781	\N	"" []	NCBITaxon:781	"" []	226075	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rickettsia conorii
NCBITaxon:782	\N	\N	"" []	NCBITaxon:782	"" []	72846	\N	\N	ncbi_taxonomy	0	EFO	Rickettsia prowazekii	Rickettsia prowazekii
NCBITaxon:2	NCBITaxon:782	\N	"" []	NCBITaxon:782	"" []	226076	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rickettsia prowazekii
NCBITaxon:783	\N	\N	"" []	NCBITaxon:783	"" []	72847	\N	\N	ncbi_taxonomy	0	EFO	Rickettsia rickettsii	Rickettsia rickettsii
NCBITaxon:2	NCBITaxon:783	\N	"" []	NCBITaxon:783	"" []	226077	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Rickettsia rickettsii
NCBITaxon:7830	\N	\N	"" []	NCBITaxon:7830	"" []	72848	\N	\N	ncbi_taxonomy	0	EFO	Scyliorhinus canicula	Scyliorhinus canicula
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7830	"" []	195640	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Scyliorhinus canicula
NCBITaxon:784	\N	\N	"" []	NCBITaxon:784	"" []	72849	\N	\N	ncbi_taxonomy	0	EFO	Orientia tsutsugamushi	Orientia tsutsugamushi
NCBITaxon:2	NCBITaxon:784	\N	"" []	NCBITaxon:784	"" []	226078	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Orientia tsutsugamushi
NCBITaxon:78511	\N	\N	"" []	NCBITaxon:78511	"" []	72850	\N	\N	ncbi_taxonomy	0	EFO	Ribes nigrum	Ribes nigrum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:78511	"" []	195641	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Ribes nigrum
NCBITaxon:7868	\N	\N	"" []	NCBITaxon:7868	"" []	72851	\N	\N	ncbi_taxonomy	0	EFO	Callorhinchus milii	Callorhinchus milii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7868	"" []	195642	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Callorhinchus milii
NCBITaxon:78864	\N	\N	"" []	NCBITaxon:78864	"" []	72852	\N	\N	ncbi_taxonomy	0	EFO	Fusarium globosum	Fusarium globosum
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:78864	"" []	195643	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Fusarium globosum
NCBITaxon:79015	\N	\N	"" []	NCBITaxon:79015	"" []	72853	\N	\N	ncbi_taxonomy	0	EFO	Rana chensinensis	Rana chensinensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:79015	"" []	195644	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Rana chensinensis
NCBITaxon:79017	\N	\N	"" []	NCBITaxon:79017	"" []	72854	\N	\N	ncbi_taxonomy	0	EFO	Rana pirica	Rana pirica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:79017	"" []	195645	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Rana pirica
NCBITaxon:79327	\N	\N	"" []	NCBITaxon:79327	"" []	72855	\N	\N	ncbi_taxonomy	0	EFO	Schmidtea mediterranea	Schmidtea mediterranea
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:79327	"" []	195646	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Schmidtea mediterranea
NCBITaxon:7936	\N	\N	"" []	NCBITaxon:7936	"" []	72856	\N	\N	ncbi_taxonomy	0	EFO	Anguilla anguilla	Anguilla anguilla
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7936	"" []	195647	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Anguilla anguilla
NCBITaxon:7955	\N	\N	"" []	NCBITaxon:7955	"" []	72857	\N	\N	ncbi_taxonomy	0	EFO	Danio rerio	Danio rerio
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7955	"" []	195648	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Danio rerio
NCBITaxon:7957	\N	\N	"" []	NCBITaxon:7957	"" []	72858	\N	\N	ncbi_taxonomy	0	EFO	Carassius auratus	Carassius auratus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7957	"" []	195649	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Carassius auratus
NCBITaxon:7962	\N	\N	"" []	NCBITaxon:7962	"" []	72859	\N	\N	ncbi_taxonomy	0	EFO	Cyprinus carpio	Cyprinus carpio
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7962	"" []	195650	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cyprinus carpio
NCBITaxon:7963	\N	\N	"" []	NCBITaxon:7963	"" []	72860	\N	\N	ncbi_taxonomy	0	EFO	Hypophthalmichthys	Hypophthalmichthys
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7963	"" []	195651	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Hypophthalmichthys
NCBITaxon:79692	\N	\N	"" []	NCBITaxon:79692	"" []	72861	\N	\N	ncbi_taxonomy	0	EFO	Human respiratory syncytial virus B1	Human respiratory syncytial virus B1
NCBITaxon:10239	NCBITaxon:79692	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:79692	"" []	226079	\N	\N	ncbi_taxonomy	1	EFO	Virus	Human respiratory syncytial virus B1
NCBITaxon:79782	\N	\N	"" []	NCBITaxon:79782	"" []	72862	\N	\N	ncbi_taxonomy	0	EFO	Cimex lectularius	Cimex lectularius
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:79782	"" []	195652	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cimex lectularius
NCBITaxon:79824	\N	\N	"" []	NCBITaxon:79824	"" []	72863	\N	\N	ncbi_taxonomy	0	EFO	Andropogon gerardii	Andropogon gerardii
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:79824	"" []	195653	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Andropogon gerardii
NCBITaxon:79923	\N	\N	"" []	NCBITaxon:79923	"" []	72864	\N	\N	ncbi_taxonomy	0	EFO	Clonorchis sinensis	Clonorchis sinensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:79923	"" []	195654	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Clonorchis sinensis
NCBITaxon:7998	\N	\N	"" []	NCBITaxon:7998	"" []	72865	\N	\N	ncbi_taxonomy	0	EFO	Ictalurus punctatus	Ictalurus punctatus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:7998	"" []	195655	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Ictalurus punctatus
NCBITaxon:8014	\N	\N	"" []	NCBITaxon:8014	"" []	72866	\N	\N	ncbi_taxonomy	0	EFO	Osmerus mordax	Osmerus mordax
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8014	"" []	195656	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Osmerus mordax
NCBITaxon:8017	\N	\N	"" []	NCBITaxon:8017	"" []	72867	\N	\N	ncbi_taxonomy	0	EFO	Oncorhynchus gorbuscha	Oncorhynchus gorbuscha
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8017	"" []	195657	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Oncorhynchus gorbuscha
NCBITaxon:8019	\N	\N	"" []	NCBITaxon:8019	"" []	72868	\N	\N	ncbi_taxonomy	0	EFO	Oncorhynchus kisutch	Oncorhynchus kisutch
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8019	"" []	195658	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Oncorhynchus kisutch
NCBITaxon:8022	\N	\N	"" []	NCBITaxon:8022	"" []	72869	\N	\N	ncbi_taxonomy	0	EFO	Oncorhynchus mykiss	Oncorhynchus mykiss
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8022	"" []	195659	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Oncorhynchus mykiss
NCBITaxon:8023	\N	\N	"" []	NCBITaxon:8023	"" []	72870	\N	\N	ncbi_taxonomy	0	EFO	Oncorhynchus nerka	Oncorhynchus nerka
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8023	"" []	195660	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Oncorhynchus nerka
NCBITaxon:803	\N	\N	"" []	NCBITaxon:803	"" []	72871	\N	\N	ncbi_taxonomy	0	EFO	Bartonella quintana	Bartonella quintana
NCBITaxon:2	NCBITaxon:803	\N	"" []	NCBITaxon:803	"" []	226080	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bartonella quintana
NCBITaxon:8030	\N	\N	"" []	NCBITaxon:8030	"" []	72872	\N	\N	ncbi_taxonomy	0	EFO	Salmo salar	Salmo salar
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8030	"" []	195661	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Salmo salar
NCBITaxon:8032	\N	\N	"" []	NCBITaxon:8032	"" []	72873	\N	\N	ncbi_taxonomy	0	EFO	Salmo trutta	Salmo trutta
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8032	"" []	195662	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Salmo trutta
NCBITaxon:8036	\N	\N	"" []	NCBITaxon:8036	"" []	72874	\N	\N	ncbi_taxonomy	0	EFO	Salvelinus alpinus	Salvelinus alpinus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8036	"" []	195663	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Salvelinus alpinus
NCBITaxon:8038	\N	\N	"" []	NCBITaxon:8038	"" []	72875	\N	\N	ncbi_taxonomy	0	EFO	Salvelinus fontinalis	Salvelinus fontinalis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8038	"" []	195664	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Salvelinus fontinalis
NCBITaxon:8049	\N	\N	"" []	NCBITaxon:8049	"" []	72876	\N	\N	ncbi_taxonomy	0	EFO	Gadus morhua	Gadus morhua
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8049	"" []	195665	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Gadus morhua
NCBITaxon:8078	\N	\N	"" []	NCBITaxon:8078	"" []	72877	\N	\N	ncbi_taxonomy	0	EFO	Fundulus heteroclitus	Fundulus heteroclitus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8078	"" []	195666	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Fundulus heteroclitus
NCBITaxon:8081	\N	\N	"" []	NCBITaxon:8081	"" []	72878	\N	\N	ncbi_taxonomy	0	EFO	Poecilia reticulata	Poecilia reticulata
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8081	"" []	195667	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Poecilia reticulata
NCBITaxon:8082	\N	\N	"" []	NCBITaxon:8082	"" []	72879	\N	\N	ncbi_taxonomy	0	EFO	Xiphophorus	Xiphophorus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8082	"" []	195668	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Xiphophorus
NCBITaxon:8090	\N	\N	"" []	NCBITaxon:8090	"" []	72880	\N	\N	ncbi_taxonomy	0	EFO	Oryzias latipes	Oryzias latipes
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8090	"" []	195669	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Oryzias latipes
NCBITaxon:80956	\N	\N	"" []	NCBITaxon:80956	"" []	72881	\N	\N	ncbi_taxonomy	0	EFO	Pomacentrus moluccensis	Pomacentrus moluccensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:80956	"" []	195670	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pomacentrus moluccensis
NCBITaxon:81077	\N	\N	"" []	NCBITaxon:81077	"" []	72882	\N	\N	ncbi_taxonomy	0	EFO	artificial sequences	artificial sequences
OBI:0100026	\N	\N	"A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster" []	NCBITaxon:81077	"" []	195671	\N	\N	ncbi_taxonomy	0	EFO	organism	artificial sequences
NCBITaxon:8128	\N	\N	"" []	NCBITaxon:8128	"" []	72883	\N	\N	ncbi_taxonomy	0	EFO	Oreochromis niloticus	Oreochromis niloticus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8128	"" []	195672	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Oreochromis niloticus
NCBITaxon:813	\N	\N	"" []	NCBITaxon:813	"" []	72884	\N	\N	ncbi_taxonomy	0	EFO	Chlamydia trachomatis	Chlamydia trachomatis
NCBITaxon:2	NCBITaxon:813	\N	"" []	NCBITaxon:813	"" []	226081	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Chlamydia trachomatis
NCBITaxon:81473	\N	\N	"" []	NCBITaxon:81473	"" []	72885	\N	\N	ncbi_taxonomy	0	EFO	Alopecurus myosuroides	Alopecurus myosuroides
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:81473	"" []	195673	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Alopecurus myosuroides
NCBITaxon:8152	\N	\N	"" []	NCBITaxon:8152	"" []	72886	\N	\N	ncbi_taxonomy	0	EFO	Astatotilapia	Astatotilapia
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8152	"" []	195674	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Astatotilapia
NCBITaxon:8153	\N	\N	"" []	NCBITaxon:8153	"" []	72887	\N	\N	ncbi_taxonomy	0	EFO	Haplochromis burtoni	Haplochromis burtoni
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8153	"" []	195675	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Haplochromis burtoni
NCBITaxon:816	\N	\N	"" []	NCBITaxon:816	"" []	72888	\N	\N	ncbi_taxonomy	0	EFO	Bacteroides	Bacteroides
NCBITaxon:2	NCBITaxon:816	\N	"" []	NCBITaxon:816	"" []	226082	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacteroides
NCBITaxon:8164	\N	\N	"" []	NCBITaxon:8164	"" []	72889	\N	\N	ncbi_taxonomy	0	EFO	Lateolabrax japonicus	Lateolabrax japonicus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8164	"" []	195676	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Lateolabrax japonicus
NCBITaxon:817	\N	\N	"" []	NCBITaxon:817	"" []	72890	\N	\N	ncbi_taxonomy	0	EFO	Bacteroides fragilis	Bacteroides fragilis
NCBITaxon:2	NCBITaxon:817	\N	"" []	NCBITaxon:817	"" []	226083	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacteroides fragilis
NCBITaxon:8175	\N	\N	"" []	NCBITaxon:8175	"" []	72891	\N	\N	ncbi_taxonomy	0	EFO	Sparus aurata	Sparus aurata
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8175	"" []	195677	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Sparus aurata
NCBITaxon:818	\N	\N	"" []	NCBITaxon:818	"" []	72892	\N	\N	ncbi_taxonomy	0	EFO	Bacteroides thetaiotaomicron	Bacteroides thetaiotaomicron
NCBITaxon:2	NCBITaxon:818	\N	"" []	NCBITaxon:818	"" []	226084	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacteroides thetaiotaomicron
NCBITaxon:81824	\N	\N	"" []	NCBITaxon:81824	"" []	72893	\N	\N	ncbi_taxonomy	0	EFO	Monosiga brevicollis	Monosiga brevicollis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:81824	"" []	195678	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Monosiga brevicollis
NCBITaxon:81845	\N	\N	"" []	NCBITaxon:81845	"" []	72894	\N	\N	ncbi_taxonomy	0	EFO	Trichophyton terrestre	Trichophyton terrestre
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:81845	"" []	195679	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Trichophyton terrestre
NCBITaxon:81846	\N	\N	"" []	NCBITaxon:81846	"" []	72895	\N	\N	ncbi_taxonomy	0	EFO	Arthroderma cajetani	Arthroderma cajetani
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:81846	"" []	195680	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Arthroderma cajetani
NCBITaxon:81970	\N	\N	"" []	NCBITaxon:81970	"" []	72896	\N	\N	ncbi_taxonomy	0	EFO	Arabidopsis halleri	Arabidopsis halleri
NCBITaxon:3701	NCBITaxon:81970	\N	"" []	NCBITaxon:81970	"" []	226085	\N	\N	ncbi_taxonomy	1	EFO	Arabidopsis	Arabidopsis halleri
NCBITaxon:81985	\N	\N	"" []	NCBITaxon:81985	"" []	72897	\N	\N	ncbi_taxonomy	0	EFO	Capsella rubella	Capsella rubella
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:81985	"" []	195681	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Capsella rubella
NCBITaxon:821	\N	\N	"" []	NCBITaxon:821	"" []	72898	\N	\N	ncbi_taxonomy	0	EFO	Bacteroides vulgatus	Bacteroides vulgatus
NCBITaxon:2	NCBITaxon:821	\N	"" []	NCBITaxon:821	"" []	226086	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacteroides vulgatus
NCBITaxon:8222	\N	\N	"" []	NCBITaxon:8222	"" []	72899	\N	\N	ncbi_taxonomy	0	EFO	Gillichthys mirabilis	Gillichthys mirabilis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8222	"" []	195682	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Gillichthys mirabilis
NCBITaxon:82328	\N	\N	"" []	NCBITaxon:82328	"" []	72900	\N	\N	ncbi_taxonomy	0	EFO	Lilium regale	Lilium regale
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:82328	"" []	195683	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Lilium regale
NCBITaxon:8237	\N	\N	"" []	NCBITaxon:8237	"" []	72901	\N	\N	ncbi_taxonomy	0	EFO	Thunnus thynnus	Thunnus thynnus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8237	"" []	195684	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Thunnus thynnus
NCBITaxon:82378	\N	\N	"" []	NCBITaxon:82378	"" []	72902	\N	\N	ncbi_taxonomy	0	EFO	Amphiura filiformis	Amphiura filiformis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:82378	"" []	195685	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Amphiura filiformis
NCBITaxon:8260	\N	\N	"" []	NCBITaxon:8260	"" []	72903	\N	\N	ncbi_taxonomy	0	EFO	Platichthys flesus	Platichthys flesus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8260	"" []	195686	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Platichthys flesus
NCBITaxon:8267	\N	\N	"" []	NCBITaxon:8267	"" []	72904	\N	\N	ncbi_taxonomy	0	EFO	Hippoglossus hippoglossus	Hippoglossus hippoglossus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8267	"" []	195687	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Hippoglossus hippoglossus
NCBITaxon:82689	\N	\N	"" []	NCBITaxon:82689	"" []	72905	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Muenster	Salmonella enterica subsp. enterica serovar Muenster
NCBITaxon:2	NCBITaxon:82689	\N	"" []	NCBITaxon:82689	"" []	226087	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Muenster
NCBITaxon:8296	\N	\N	"" []	NCBITaxon:8296	"" []	72906	\N	\N	ncbi_taxonomy	0	EFO	Ambystoma mexicanum	Ambystoma mexicanum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8296	"" []	195688	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Ambystoma mexicanum
NCBITaxon:8316	\N	\N	"" []	NCBITaxon:8316	"" []	72907	\N	\N	ncbi_taxonomy	0	EFO	Notophthalmus viridescens	Notophthalmus viridescens
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8316	"" []	195689	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Notophthalmus viridescens
NCBITaxon:83331	\N	\N	"" []	NCBITaxon:83331	"" []	72908	\N	\N	ncbi_taxonomy	0	EFO	Mycobacterium tuberculosis CDC1551	Mycobacterium tuberculosis CDC1551
NCBITaxon:2	NCBITaxon:83331	\N	"" []	NCBITaxon:83331	"" []	226088	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycobacterium tuberculosis CDC1551
NCBITaxon:83332	\N	\N	"" []	NCBITaxon:83332	"" []	72909	\N	\N	ncbi_taxonomy	0	EFO	Mycobacterium tuberculosis H37Rv	Mycobacterium tuberculosis H37Rv
NCBITaxon:2	NCBITaxon:83332	\N	"" []	NCBITaxon:83332	"" []	226089	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Mycobacterium tuberculosis H37Rv
NCBITaxon:83333	\N	\N	"" []	NCBITaxon:83333	"" []	72910	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli K-12	Escherichia coli K-12
NCBITaxon:2	NCBITaxon:83333	\N	"" []	NCBITaxon:83333	"" []	226090	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli K-12
NCBITaxon:83334	\N	\N	"" []	NCBITaxon:83334	"" []	72911	\N	\N	ncbi_taxonomy	0	EFO	Escherichia coli O157:H7	Escherichia coli O157:H7
NCBITaxon:2	NCBITaxon:83334	\N	"" []	NCBITaxon:83334	"" []	226091	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Escherichia coli O157:H7
NCBITaxon:83526	\N	\N	"" []	NCBITaxon:83526	"" []	72912	\N	\N	ncbi_taxonomy	0	EFO	Lactobacillus paralimentarius	Lactobacillus paralimentarius
NCBITaxon:2	NCBITaxon:83526	\N	"" []	NCBITaxon:83526	"" []	226092	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Lactobacillus paralimentarius
NCBITaxon:8355	\N	\N	"" []	NCBITaxon:8355	"" []	72913	\N	\N	ncbi_taxonomy	0	EFO	Xenopus laevis	Xenopus laevis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8355	"" []	195690	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Xenopus laevis
NCBITaxon:8364	\N	\N	"" []	NCBITaxon:8364	"" []	72914	\N	\N	ncbi_taxonomy	0	EFO	Xenopus (Silurana) tropicalis	Xenopus (Silurana) tropicalis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8364	"" []	195691	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Xenopus (Silurana) tropicalis
NCBITaxon:837	\N	\N	"" []	NCBITaxon:837	"" []	72915	\N	\N	ncbi_taxonomy	0	EFO	Porphyromonas gingivalis	Porphyromonas gingivalis
NCBITaxon:2	NCBITaxon:837	\N	"" []	NCBITaxon:837	"" []	226093	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Porphyromonas gingivalis
NCBITaxon:83816	\N	\N	"" []	NCBITaxon:83816	"" []	72916	\N	\N	ncbi_taxonomy	0	EFO	Methanobrevibacter ruminantium	Methanobrevibacter ruminantium
NCBITaxon:2157	NCBITaxon:83816	\N	"" []	NCBITaxon:83816	"" []	226094	\N	\N	ncbi_taxonomy	1	EFO	Archaea	Methanobrevibacter ruminantium
NCBITaxon:8386	\N	\N	"" []	NCBITaxon:8386	"" []	72917	\N	\N	ncbi_taxonomy	0	EFO	Bufo marinus	Bufo marinus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8386	"" []	195692	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Bufo marinus
NCBITaxon:84588	\N	\N	"" []	NCBITaxon:84588	"" []	72918	\N	\N	ncbi_taxonomy	0	EFO	Synechococcus sp. WH 8102	Synechococcus sp. WH 8102
NCBITaxon:2	NCBITaxon:84588	\N	"" []	NCBITaxon:84588	"" []	226095	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Synechococcus sp. WH 8102
NCBITaxon:851	\N	\N	"" []	NCBITaxon:851	"" []	72919	\N	\N	ncbi_taxonomy	0	EFO	Fusobacterium nucleatum	Fusobacterium nucleatum
NCBITaxon:2	NCBITaxon:851	\N	"" []	NCBITaxon:851	"" []	226096	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Fusobacterium nucleatum
NCBITaxon:85552	\N	\N	"" []	NCBITaxon:85552	"" []	72920	\N	\N	ncbi_taxonomy	0	EFO	Scylla paramamosain	Scylla paramamosain
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:85552	"" []	195693	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Scylla paramamosain
NCBITaxon:85558	\N	\N	"" []	NCBITaxon:85558	"" []	72921	\N	\N	ncbi_taxonomy	0	EFO	Streptomyces turgidiscabies	Streptomyces turgidiscabies
NCBITaxon:2	NCBITaxon:85558	\N	"" []	NCBITaxon:85558	"" []	226097	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptomyces turgidiscabies
NCBITaxon:85571	\N	\N	"" []	NCBITaxon:85571	"" []	72922	\N	\N	ncbi_taxonomy	0	EFO	Citrus reticulata	Citrus reticulata
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:85571	"" []	195694	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Citrus reticulata
NCBITaxon:85620	\N	\N	"" []	NCBITaxon:85620	"" []	72923	\N	\N	ncbi_taxonomy	0	EFO	Candidatus Phytoplasma asteris	Candidatus Phytoplasma asteris
NCBITaxon:2	NCBITaxon:85620	\N	"" []	NCBITaxon:85620	"" []	226098	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Candidatus Phytoplasma asteris
NCBITaxon:85681	\N	\N	"" []	NCBITaxon:85681	"" []	72924	\N	\N	ncbi_taxonomy	0	EFO	Citrus clementina	Citrus clementina
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:85681	"" []	195695	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Citrus clementina
NCBITaxon:85692	\N	\N	"" []	NCBITaxon:85692	"" []	72925	\N	\N	ncbi_taxonomy	0	EFO	Triticum dicoccoides	Triticum dicoccoides
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:85692	"" []	195696	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Triticum dicoccoides
NCBITaxon:85962	\N	\N	"" []	NCBITaxon:85962	"" []	72926	\N	\N	ncbi_taxonomy	0	EFO	Helicobacter pylori 26695	Helicobacter pylori 26695
NCBITaxon:2	NCBITaxon:85962	\N	"" []	NCBITaxon:85962	"" []	226099	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Helicobacter pylori 26695
NCBITaxon:85963	\N	\N	"" []	NCBITaxon:85963	"" []	72927	\N	\N	ncbi_taxonomy	0	EFO	Helicobacter pylori J99	Helicobacter pylori J99
NCBITaxon:2	NCBITaxon:85963	\N	"" []	NCBITaxon:85963	"" []	226100	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Helicobacter pylori J99
NCBITaxon:85986	\N	\N	"" []	NCBITaxon:85986	"" []	72928	\N	\N	ncbi_taxonomy	0	EFO	Paxillus filamentosus	Paxillus filamentosus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:85986	"" []	195697	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Paxillus filamentosus
NCBITaxon:86020	\N	\N	"" []	NCBITaxon:86020	"" []	72929	\N	\N	ncbi_taxonomy	0	EFO	Leymus cinereus	Leymus cinereus
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:86020	"" []	195698	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Leymus cinereus
NCBITaxon:86021	\N	\N	"" []	NCBITaxon:86021	"" []	72930	\N	\N	ncbi_taxonomy	0	EFO	Leymus triticoides	Leymus triticoides
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:86021	"" []	195699	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Leymus triticoides
NCBITaxon:86662	\N	\N	"" []	NCBITaxon:86662	"" []	72931	\N	\N	ncbi_taxonomy	0	EFO	Bacillus weihenstephanensis	Bacillus weihenstephanensis
NCBITaxon:2	NCBITaxon:86662	\N	"" []	NCBITaxon:86662	"" []	226101	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bacillus weihenstephanensis
NCBITaxon:870	\N	\N	"" []	NCBITaxon:870	"" []	72932	\N	\N	ncbi_taxonomy	0	EFO	Dichelobacter nodosus	Dichelobacter nodosus
NCBITaxon:2	NCBITaxon:870	\N	"" []	NCBITaxon:870	"" []	226102	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Dichelobacter nodosus
NCBITaxon:870730	\N	\N	"" []	NCBITaxon:870730	"" []	72933	\N	\N	ncbi_taxonomy	0	EFO	Ogataea angusta	Ogataea angusta
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:870730	"" []	195700	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Ogataea angusta
NCBITaxon:87173	\N	\N	"" []	NCBITaxon:87173	"" []	72934	\N	\N	ncbi_taxonomy	0	EFO	Geospiza difficilis	Geospiza difficilis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:87173	"" []	195701	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Geospiza difficilis
NCBITaxon:8730	\N	\N	"" []	NCBITaxon:8730	"" []	72935	\N	\N	ncbi_taxonomy	0	EFO	Crotalus atrox	Crotalus atrox
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8730	"" []	195702	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Crotalus atrox
NCBITaxon:87530	\N	\N	"" []	NCBITaxon:87530	"" []	72936	\N	\N	ncbi_taxonomy	0	EFO	Cyclamen persicum	Cyclamen persicum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:87530	"" []	195703	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Cyclamen persicum
NCBITaxon:87674	\N	\N	"" []	NCBITaxon:87674	"" []	72937	\N	\N	ncbi_taxonomy	0	EFO	Eucalyptus nitens	Eucalyptus nitens
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:87674	"" []	195704	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Eucalyptus nitens
NCBITaxon:87883	\N	\N	"" []	NCBITaxon:87883	"" []	72938	\N	\N	ncbi_taxonomy	0	EFO	Burkholderia multivorans	Burkholderia multivorans
NCBITaxon:2	NCBITaxon:87883	\N	"" []	NCBITaxon:87883	"" []	226103	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Burkholderia multivorans
NCBITaxon:88036	\N	\N	"" []	NCBITaxon:88036	"" []	72939	\N	\N	ncbi_taxonomy	0	EFO	Selaginella moellendorffii	Selaginella moellendorffii
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:88036	"" []	195705	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Selaginella moellendorffii
NCBITaxon:881	\N	\N	"" []	NCBITaxon:881	"" []	72940	\N	\N	ncbi_taxonomy	0	EFO	Desulfovibrio vulgaris	Desulfovibrio vulgaris
NCBITaxon:2	NCBITaxon:881	\N	"" []	NCBITaxon:881	"" []	226104	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Desulfovibrio vulgaris
NCBITaxon:882	\N	\N	"" []	NCBITaxon:882	"" []	72941	\N	\N	ncbi_taxonomy	0	EFO	Desulfovibrio vulgaris str. Hildenborough	Desulfovibrio vulgaris str. Hildenborough
NCBITaxon:2	NCBITaxon:882	\N	"" []	NCBITaxon:882	"" []	226105	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Desulfovibrio vulgaris str. Hildenborough
NCBITaxon:88211	\N	\N	"" []	NCBITaxon:88211	"" []	72942	\N	\N	ncbi_taxonomy	0	EFO	Petrolisthes cinctipes	Petrolisthes cinctipes
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:88211	"" []	195706	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Petrolisthes cinctipes
NCBITaxon:8839	\N	\N	"" []	NCBITaxon:8839	"" []	72943	\N	\N	ncbi_taxonomy	0	EFO	Anas platyrhynchos	Anas platyrhynchos
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8839	"" []	195707	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Anas platyrhynchos
NCBITaxon:88556	\N	\N	"" []	NCBITaxon:88556	"" []	72944	\N	\N	ncbi_taxonomy	0	EFO	Trialeurodes vaporariorum	Trialeurodes vaporariorum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:88556	"" []	195708	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Trialeurodes vaporariorum
NCBITaxon:89184	\N	\N	"" []	NCBITaxon:89184	"" []	72945	\N	\N	ncbi_taxonomy	0	EFO	Ruegeria pomeroyi	Ruegeria pomeroyi
NCBITaxon:2	NCBITaxon:89184	\N	"" []	NCBITaxon:89184	"" []	226106	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Ruegeria pomeroyi
NCBITaxon:8932	\N	\N	"" []	NCBITaxon:8932	"" []	72946	\N	\N	ncbi_taxonomy	0	EFO	Columba livia	Columba livia
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8932	"" []	195709	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Columba livia
NCBITaxon:89462	\N	\N	"" []	NCBITaxon:89462	"" []	72947	\N	\N	ncbi_taxonomy	0	EFO	Bubalus bubalis	Bubalus bubalis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:89462	"" []	195710	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Bubalus bubalis
NCBITaxon:8965	\N	\N	"" []	NCBITaxon:8965	"" []	72948	\N	\N	ncbi_taxonomy	0	EFO	Gyps	Gyps
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:8965	"" []	195711	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Gyps
NCBITaxon:89981	\N	\N	"" []	NCBITaxon:89981	"" []	72949	\N	\N	ncbi_taxonomy	0	EFO	Saccharomyces bayanus x Saccharomyces cerevisiae	Saccharomyces bayanus x Saccharomyces cerevisiae
NCBITaxon:4890	\N	\N	"Strain or line specific to yeast" []	NCBITaxon:89981	"" []	195712	\N	\N	ncbi_taxonomy	0	EFO	Ascomycota	Saccharomyces bayanus x Saccharomyces cerevisiae
NCBITaxon:9	\N	\N	"" []	NCBITaxon:9	"" []	72950	\N	\N	ncbi_taxonomy	0	EFO	Buchnera aphidicola	Buchnera aphidicola
NCBITaxon:2	NCBITaxon:9	\N	"" []	NCBITaxon:9	"" []	226107	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Buchnera aphidicola
NCBITaxon:90105	\N	\N	"" []	NCBITaxon:90105	"" []	72951	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Saintpaul	Salmonella enterica subsp. enterica serovar Saintpaul
NCBITaxon:2	NCBITaxon:90105	\N	"" []	NCBITaxon:90105	"" []	226108	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Saintpaul
NCBITaxon:9014	\N	\N	"" []	NCBITaxon:9014	"" []	72952	\N	\N	ncbi_taxonomy	0	EFO	Colinus virginianus	Colinus virginianus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9014	"" []	195713	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Colinus virginianus
NCBITaxon:9031	\N	\N	"" []	NCBITaxon:9031	"" []	72953	\N	\N	ncbi_taxonomy	0	EFO	Gallus gallus	Gallus gallus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9031	"" []	195714	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Gallus gallus
NCBITaxon:90370	\N	\N	"" []	NCBITaxon:90370	"" []	72954	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Typhi	Salmonella enterica subsp. enterica serovar Typhi
NCBITaxon:2	NCBITaxon:90370	\N	"" []	NCBITaxon:90370	"" []	226109	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Typhi
NCBITaxon:90371	\N	\N	"" []	NCBITaxon:90371	"" []	72955	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Typhimurium	Salmonella enterica subsp. enterica serovar Typhimurium
NCBITaxon:2	NCBITaxon:90371	\N	"" []	NCBITaxon:90371	"" []	226110	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Typhimurium
NCBITaxon:9046	\N	\N	"" []	NCBITaxon:9046	"" []	72956	\N	\N	ncbi_taxonomy	0	EFO	Lophura nycthemera	Lophura nycthemera
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9046	"" []	195715	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Lophura nycthemera
NCBITaxon:9049	\N	\N	"" []	NCBITaxon:9049	"" []	72957	\N	\N	ncbi_taxonomy	0	EFO	Pavo cristatus	Pavo cristatus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9049	"" []	195716	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pavo cristatus
NCBITaxon:90550	\N	\N	"" []	NCBITaxon:90550	"" []	72958	\N	\N	ncbi_taxonomy	0	EFO	Macroptilium atropurpureum	Macroptilium atropurpureum
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:90550	"" []	195717	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Macroptilium atropurpureum
NCBITaxon:9088	\N	\N	"" []	NCBITaxon:9088	"" []	72959	\N	\N	ncbi_taxonomy	0	EFO	Chrysolophus amherstiae	Chrysolophus amherstiae
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9088	"" []	195718	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Chrysolophus amherstiae
NCBITaxon:9089	\N	\N	"" []	NCBITaxon:9089	"" []	72960	\N	\N	ncbi_taxonomy	0	EFO	Chrysolophus pictus	Chrysolophus pictus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9089	"" []	195719	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Chrysolophus pictus
NCBITaxon:90961	\N	\N	"" []	NCBITaxon:90961	"" []	72961	\N	\N	ncbi_taxonomy	0	EFO	Australian bat lyssavirus	Australian bat lyssavirus
NCBITaxon:10239	NCBITaxon:90961	\N	"Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." []	NCBITaxon:90961	"" []	226111	\N	\N	ncbi_taxonomy	1	EFO	Virus	Australian bat lyssavirus
NCBITaxon:90988	\N	\N	"" []	NCBITaxon:90988	"" []	72962	\N	\N	ncbi_taxonomy	0	EFO	Pimephales promelas	Pimephales promelas
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:90988	"" []	195720	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pimephales promelas
NCBITaxon:9103	\N	\N	"" []	NCBITaxon:9103	"" []	72963	\N	\N	ncbi_taxonomy	0	EFO	Meleagris gallopavo	Meleagris gallopavo
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9103	"" []	195721	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Meleagris gallopavo
NCBITaxon:91422	\N	\N	"" []	NCBITaxon:91422	"" []	72964	\N	\N	ncbi_taxonomy	0	EFO	Polistes metricus	Polistes metricus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:91422	"" []	195722	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Polistes metricus
NCBITaxon:915	\N	\N	"" []	NCBITaxon:915	"" []	72965	\N	\N	ncbi_taxonomy	0	EFO	Nitrosomonas europaea	Nitrosomonas europaea
NCBITaxon:2	NCBITaxon:915	\N	"" []	NCBITaxon:915	"" []	226112	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Nitrosomonas europaea
NCBITaxon:920	\N	\N	"" []	NCBITaxon:920	"" []	72966	\N	\N	ncbi_taxonomy	0	EFO	Acidithiobacillus ferrooxidans	Acidithiobacillus ferrooxidans
NCBITaxon:2	NCBITaxon:920	\N	"" []	NCBITaxon:920	"" []	226113	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Acidithiobacillus ferrooxidans
NCBITaxon:92181	\N	\N	"" []	NCBITaxon:92181	"" []	72967	\N	\N	ncbi_taxonomy	0	EFO	Bartonella koehlerae	Bartonella koehlerae
NCBITaxon:2	NCBITaxon:92181	\N	"" []	NCBITaxon:92181	"" []	226114	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bartonella koehlerae
NCBITaxon:9234	\N	\N	"" []	NCBITaxon:9234	"" []	72968	\N	\N	ncbi_taxonomy	0	EFO	Aptenodytes patagonicus	Aptenodytes patagonicus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9234	"" []	195723	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Aptenodytes patagonicus
NCBITaxon:9244	\N	\N	"" []	NCBITaxon:9244	"" []	72969	\N	\N	ncbi_taxonomy	0	EFO	Calypte anna	Calypte anna
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9244	"" []	195724	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Calypte anna
NCBITaxon:9258	\N	\N	"" []	NCBITaxon:9258	"" []	72970	\N	\N	ncbi_taxonomy	0	EFO	Ornithorhynchus anatinus	Ornithorhynchus anatinus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9258	"" []	195725	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Ornithorhynchus anatinus
NCBITaxon:9261	\N	\N	"" []	NCBITaxon:9261	"" []	72971	\N	\N	ncbi_taxonomy	0	EFO	Tachyglossus aculeatus	Tachyglossus aculeatus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9261	"" []	195726	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Tachyglossus aculeatus
NCBITaxon:9305	\N	\N	"" []	NCBITaxon:9305	"" []	72972	\N	\N	ncbi_taxonomy	0	EFO	Sarcophilus harrisii	Sarcophilus harrisii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9305	"" []	195727	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Sarcophilus harrisii
NCBITaxon:93061	\N	\N	"" []	NCBITaxon:93061	"" []	72973	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus aureus subsp. aureus NCTC 8325	Staphylococcus aureus subsp. aureus NCTC 8325
NCBITaxon:2	NCBITaxon:93061	\N	"" []	NCBITaxon:93061	"" []	226115	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus aureus subsp. aureus NCTC 8325
NCBITaxon:93062	\N	\N	"" []	NCBITaxon:93062	"" []	72974	\N	\N	ncbi_taxonomy	0	EFO	Staphylococcus aureus subsp. aureus COL	Staphylococcus aureus subsp. aureus COL
NCBITaxon:2	NCBITaxon:93062	\N	"" []	NCBITaxon:93062	"" []	226116	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Staphylococcus aureus subsp. aureus COL
NCBITaxon:9315	\N	\N	"" []	NCBITaxon:9315	"" []	72975	\N	\N	ncbi_taxonomy	0	EFO	Macropus eugenii	Macropus eugenii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9315	"" []	195728	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Macropus eugenii
NCBITaxon:9361	\N	\N	"" []	NCBITaxon:9361	"" []	72976	\N	\N	ncbi_taxonomy	0	EFO	Dasypus novemcinctus	Dasypus novemcinctus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9361	"" []	195729	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Dasypus novemcinctus
NCBITaxon:93929	\N	\N	"" []	NCBITaxon:93929	"" []	72977	\N	\N	ncbi_taxonomy	0	EFO	Thermotoga petrophila	Thermotoga petrophila
NCBITaxon:2	NCBITaxon:93929	\N	"" []	NCBITaxon:93929	"" []	226117	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Thermotoga petrophila
NCBITaxon:93934	\N	\N	"" []	NCBITaxon:93934	"" []	72978	\N	\N	ncbi_taxonomy	0	EFO	Coturnix japonica	Coturnix japonica
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:93934	"" []	195730	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Coturnix japonica
NCBITaxon:94232	\N	\N	"" []	NCBITaxon:94232	"" []	72979	\N	\N	ncbi_taxonomy	0	EFO	Epinephelus coioides	Epinephelus coioides
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:94232	"" []	195731	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Epinephelus coioides
NCBITaxon:94289	\N	\N	"" []	NCBITaxon:94289	"" []	72980	\N	\N	ncbi_taxonomy	0	EFO	Sterkiella histriomuscorum	Sterkiella histriomuscorum
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:94289	"" []	195732	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Sterkiella histriomuscorum
NCBITaxon:94323	\N	\N	"" []	NCBITaxon:94323	"" []	72981	\N	\N	ncbi_taxonomy	0	EFO	Crassostrea ariakensis	Crassostrea ariakensis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:94323	"" []	195733	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Crassostrea ariakensis
NCBITaxon:94328	\N	\N	"" []	NCBITaxon:94328	"" []	72982	\N	\N	ncbi_taxonomy	0	EFO	Zingiber officinale	Zingiber officinale
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:94328	"" []	195734	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Zingiber officinale
NCBITaxon:948	\N	\N	"" []	NCBITaxon:948	"" []	72983	\N	\N	ncbi_taxonomy	0	EFO	Anaplasma phagocytophilum	Anaplasma phagocytophilum
NCBITaxon:2	NCBITaxon:948	\N	"" []	NCBITaxon:948	"" []	226118	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Anaplasma phagocytophilum
NCBITaxon:9483	\N	\N	"" []	NCBITaxon:9483	"" []	72984	\N	\N	ncbi_taxonomy	0	EFO	Callithrix jacchus	Callithrix jacchus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9483	"" []	195735	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Callithrix jacchus
NCBITaxon:94898	\N	\N	"" []	NCBITaxon:94898	"" []	72985	\N	\N	ncbi_taxonomy	0	EFO	Masticophis	Masticophis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:94898	"" []	195736	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Masticophis
NCBITaxon:9531	\N	\N	"" []	NCBITaxon:9531	"" []	72986	\N	\N	ncbi_taxonomy	0	EFO	Cercocebus atys	Cercocebus atys
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9531	"" []	195737	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cercocebus atys
NCBITaxon:9534	\N	\N	"" []	NCBITaxon:9534	"" []	72987	\N	\N	ncbi_taxonomy	0	EFO	Chlorocebus aethiops	Chlorocebus aethiops
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9534	"" []	195738	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Chlorocebus aethiops
NCBITaxon:9541	\N	\N	"" []	NCBITaxon:9541	"" []	72988	\N	\N	ncbi_taxonomy	0	EFO	Macaca fascicularis	Macaca fascicularis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9541	"" []	195739	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Macaca fascicularis
NCBITaxon:9544	\N	\N	"" []	NCBITaxon:9544	"" []	72989	\N	\N	ncbi_taxonomy	0	EFO	Macaca mulatta	Macaca mulatta
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9544	"" []	195740	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Macaca mulatta
NCBITaxon:9545	\N	\N	"" []	NCBITaxon:9545	"" []	72990	\N	\N	ncbi_taxonomy	0	EFO	Macaca nemestrina	Macaca nemestrina
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9545	"" []	195741	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Macaca nemestrina
NCBITaxon:9548	\N	\N	"" []	NCBITaxon:9548	"" []	72991	\N	\N	ncbi_taxonomy	0	EFO	Macaca radiata	Macaca radiata
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9548	"" []	195742	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Macaca radiata
NCBITaxon:95486	\N	\N	"" []	NCBITaxon:95486	"" []	72992	\N	\N	ncbi_taxonomy	0	EFO	Burkholderia cenocepacia	Burkholderia cenocepacia
NCBITaxon:2	NCBITaxon:95486	\N	"" []	NCBITaxon:95486	"" []	226119	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Burkholderia cenocepacia
NCBITaxon:955	\N	\N	"" []	NCBITaxon:955	"" []	72993	\N	\N	ncbi_taxonomy	0	EFO	Wolbachia pipientis	Wolbachia pipientis
NCBITaxon:2	NCBITaxon:955	\N	"" []	NCBITaxon:955	"" []	226120	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Wolbachia pipientis
NCBITaxon:9554	\N	\N	"" []	NCBITaxon:9554	"" []	72994	\N	\N	ncbi_taxonomy	0	EFO	Papio	Papio
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9554	"" []	195743	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Papio
NCBITaxon:9555	\N	\N	"" []	NCBITaxon:9555	"" []	72995	\N	\N	ncbi_taxonomy	0	EFO	Papio anubis	Papio anubis
NCBITaxon:9554	NCBITaxon:9555	\N	"" []	NCBITaxon:9555	"" []	226121	\N	\N	ncbi_taxonomy	1	EFO	Papio	Papio anubis
NCBITaxon:9557	\N	\N	"" []	NCBITaxon:9557	"" []	72996	\N	\N	ncbi_taxonomy	0	EFO	Papio hamadryas	Papio hamadryas
NCBITaxon:9554	NCBITaxon:9557	\N	"" []	NCBITaxon:9557	"" []	226122	\N	\N	ncbi_taxonomy	1	EFO	Papio	Papio hamadryas
NCBITaxon:959	\N	\N	"" []	NCBITaxon:959	"" []	72997	\N	\N	ncbi_taxonomy	0	EFO	Bdellovibrio bacteriovorus	Bdellovibrio bacteriovorus
NCBITaxon:2	NCBITaxon:959	\N	"" []	NCBITaxon:959	"" []	226123	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Bdellovibrio bacteriovorus
NCBITaxon:9593	\N	\N	"" []	NCBITaxon:9593	"" []	72998	\N	\N	ncbi_taxonomy	0	EFO	Gorilla gorilla	Gorilla gorilla
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9593	"" []	195744	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Gorilla gorilla
NCBITaxon:9595	\N	\N	"" []	NCBITaxon:9595	"" []	72999	\N	\N	ncbi_taxonomy	0	EFO	Gorilla gorilla gorilla	Gorilla gorilla gorilla
NCBITaxon:9593	NCBITaxon:9595	\N	"" []	NCBITaxon:9595	"" []	226124	\N	\N	ncbi_taxonomy	1	EFO	Gorilla gorilla	Gorilla gorilla gorilla
NCBITaxon:9597	\N	\N	"" []	NCBITaxon:9597	"" []	73000	\N	\N	ncbi_taxonomy	0	EFO	Pan paniscus	Pan paniscus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9597	"" []	195745	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pan paniscus
NCBITaxon:9598	\N	\N	"" []	NCBITaxon:9598	"" []	73001	\N	\N	ncbi_taxonomy	0	EFO	Pan troglodytes	Pan troglodytes
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9598	"" []	195746	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pan troglodytes
NCBITaxon:9600	\N	\N	"" []	NCBITaxon:9600	"" []	73002	\N	\N	ncbi_taxonomy	0	EFO	Pongo pygmaeus	Pongo pygmaeus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9600	"" []	195747	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pongo pygmaeus
NCBITaxon:9601	\N	\N	"" []	NCBITaxon:9601	"" []	73003	\N	\N	ncbi_taxonomy	0	EFO	Pongo abelii	Pongo abelii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9601	"" []	195748	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pongo abelii
NCBITaxon:9602	\N	\N	"" []	NCBITaxon:9602	"" []	73004	\N	\N	ncbi_taxonomy	0	EFO	Pongo pygmaeus pygmaeus	Pongo pygmaeus pygmaeus
NCBITaxon:9600	NCBITaxon:9602	\N	"" []	NCBITaxon:9602	"" []	226125	\N	\N	ncbi_taxonomy	1	EFO	Pongo pygmaeus	Pongo pygmaeus pygmaeus
NCBITaxon:9603	\N	\N	"" []	NCBITaxon:9603	"" []	73005	\N	\N	ncbi_taxonomy	0	EFO	Pongo sp.	Pongo sp.
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9603	"" []	195749	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Pongo sp.
NCBITaxon:9606	\N	\N	"" []	NCBITaxon:9606	"" []	73006	\N	\N	ncbi_taxonomy	0	EFO	Homo sapiens	Homo sapiens
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9606	"" []	195750	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Homo sapiens
NCBITaxon:9612	\N	\N	"" []	NCBITaxon:9612	"" []	73007	\N	\N	ncbi_taxonomy	0	EFO	Canis lupus	Canis lupus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9612	"" []	195751	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Canis lupus
NCBITaxon:9615	\N	\N	"" []	NCBITaxon:9615	"" []	73008	\N	\N	ncbi_taxonomy	0	EFO	Canis lupus familiaris	Canis lupus familiaris
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9615	"" []	195752	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Canis lupus familiaris
NCBITaxon:9627	\N	\N	"" []	NCBITaxon:9627	"" []	73009	\N	\N	ncbi_taxonomy	0	EFO	Vulpes vulpes	Vulpes vulpes
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9627	"" []	195753	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Vulpes vulpes
NCBITaxon:9643	\N	\N	"" []	NCBITaxon:9643	"" []	73010	\N	\N	ncbi_taxonomy	0	EFO	Ursus americanus	Ursus americanus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9643	"" []	195754	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Ursus americanus
NCBITaxon:9669	\N	\N	"" []	NCBITaxon:9669	"" []	73012	\N	\N	ncbi_taxonomy	0	EFO	Mustela putorius furo	Mustela putorius furo
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9669	"" []	195755	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Mustela putorius furo
NCBITaxon:9685	\N	\N	"" []	NCBITaxon:9685	"" []	73013	\N	\N	ncbi_taxonomy	0	EFO	Felis catus	Felis catus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9685	"" []	195756	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Felis catus
NCBITaxon:96939	\N	\N	"" []	NCBITaxon:96939	"" []	73014	\N	\N	ncbi_taxonomy	0	EFO	Vitis riparia	Vitis riparia
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:96939	"" []	195757	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Vitis riparia
NCBITaxon:9704	\N	\N	"" []	NCBITaxon:9704	"" []	73015	\N	\N	ncbi_taxonomy	0	EFO	Zalophus californianus	Zalophus californianus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9704	"" []	195758	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Zalophus californianus
NCBITaxon:9739	\N	\N	"" []	NCBITaxon:9739	"" []	73016	\N	\N	ncbi_taxonomy	0	EFO	Tursiops truncatus	Tursiops truncatus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9739	"" []	195759	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Tursiops truncatus
NCBITaxon:9749	\N	\N	"" []	NCBITaxon:9749	"" []	73017	\N	\N	ncbi_taxonomy	0	EFO	Delphinapterus leucas	Delphinapterus leucas
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9749	"" []	195760	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Delphinapterus leucas
NCBITaxon:9796	\N	\N	"" []	NCBITaxon:9796	"" []	73018	\N	\N	ncbi_taxonomy	0	EFO	Equus caballus	Equus caballus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9796	"" []	195761	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Equus caballus
NCBITaxon:9823	\N	\N	"" []	NCBITaxon:9823	"" []	73020	\N	\N	ncbi_taxonomy	0	EFO	Sus scrofa	Sus scrofa
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9823	"" []	195762	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Sus scrofa
NCBITaxon:98360	\N	\N	"" []	NCBITaxon:98360	"" []	73021	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Dublin	Salmonella enterica subsp. enterica serovar Dublin
NCBITaxon:2	NCBITaxon:98360	\N	"" []	NCBITaxon:98360	"" []	226126	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Dublin
NCBITaxon:9860	\N	\N	"" []	NCBITaxon:9860	"" []	73022	\N	\N	ncbi_taxonomy	0	EFO	Cervus elaphus	Cervus elaphus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9860	"" []	195763	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cervus elaphus
NCBITaxon:9863	\N	\N	"" []	NCBITaxon:9863	"" []	73023	\N	\N	ncbi_taxonomy	0	EFO	Cervus nippon	Cervus nippon
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9863	"" []	195764	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Cervus nippon
NCBITaxon:98746	\N	\N	"" []	NCBITaxon:98746	"" []	73024	\N	\N	ncbi_taxonomy	0	EFO	Festuca brevipila	Festuca brevipila
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:98746	"" []	195765	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Festuca brevipila
NCBITaxon:98754	\N	\N	"" []	NCBITaxon:98754	"" []	73025	\N	\N	ncbi_taxonomy	0	EFO	Festuca rubra subsp. fallax	Festuca rubra subsp. fallax
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:98754	"" []	195766	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Festuca rubra subsp. fallax
NCBITaxon:98755	\N	\N	"" []	NCBITaxon:98755	"" []	73026	\N	\N	ncbi_taxonomy	0	EFO	Festuca rubra subsp. littoralis	Festuca rubra subsp. littoralis
NCBITaxon:33090	\N	\N	"Viridiplantae are a clade comprising the green algae and land plants." []	NCBITaxon:98755	"" []	195767	\N	\N	ncbi_taxonomy	0	EFO	Viridiplantae	Festuca rubra subsp. littoralis
NCBITaxon:98794	\N	\N	"" []	NCBITaxon:98794	"" []	73027	\N	\N	ncbi_taxonomy	0	EFO	Buchnera aphidicola (Schizaphis graminum)	Buchnera aphidicola (Schizaphis graminum)
NCBITaxon:2	NCBITaxon:98794	\N	"" []	NCBITaxon:98794	"" []	226127	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Buchnera aphidicola (Schizaphis graminum)
NCBITaxon:9913	\N	\N	"" []	NCBITaxon:9913	"" []	73028	\N	\N	ncbi_taxonomy	0	EFO	Bos taurus	Bos taurus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9913	"" []	195768	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Bos taurus
NCBITaxon:9915	\N	\N	"" []	NCBITaxon:9915	"" []	73029	\N	\N	ncbi_taxonomy	0	EFO	Bos indicus	Bos indicus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9915	"" []	195769	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Bos indicus
NCBITaxon:9925	\N	\N	"" []	NCBITaxon:9925	"" []	73030	\N	\N	ncbi_taxonomy	0	EFO	Capra hircus	Capra hircus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9925	"" []	195770	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Capra hircus
NCBITaxon:99287	\N	\N	"" []	NCBITaxon:99287	"" []	73031	\N	\N	ncbi_taxonomy	0	EFO	Salmonella enterica subsp. enterica serovar Typhimurium str. LT2	Salmonella enterica subsp. enterica serovar Typhimurium str. LT2
NCBITaxon:2	NCBITaxon:99287	\N	"" []	NCBITaxon:99287	"" []	226128	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Salmonella enterica subsp. enterica serovar Typhimurium str. LT2
NCBITaxon:9940	\N	\N	"" []	NCBITaxon:9940	"" []	73032	\N	\N	ncbi_taxonomy	0	EFO	Ovis aries	Ovis aries
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9940	"" []	195771	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Ovis aries
NCBITaxon:99822	\N	\N	"" []	NCBITaxon:99822	"" []	73033	\N	\N	ncbi_taxonomy	0	EFO	Streptococcus dysgalactiae subsp. dysgalactiae	Streptococcus dysgalactiae subsp. dysgalactiae
NCBITaxon:2	NCBITaxon:99822	\N	"" []	NCBITaxon:99822	"" []	226129	\N	\N	ncbi_taxonomy	1	EFO	Bacteria	Streptococcus dysgalactiae subsp. dysgalactiae
NCBITaxon:9986	\N	\N	"" []	NCBITaxon:9986	"" []	73034	\N	\N	ncbi_taxonomy	0	EFO	Oryctolagus cuniculus	Oryctolagus cuniculus
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9986	"" []	195772	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Oryctolagus cuniculus
NCBITaxon:99883	\N	\N	"" []	NCBITaxon:99883	"" []	73035	\N	\N	ncbi_taxonomy	0	EFO	Tetraodon nigroviridis	Tetraodon nigroviridis
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:99883	"" []	195773	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Tetraodon nigroviridis
NCBITaxon:9995	\N	\N	"" []	NCBITaxon:9995	"" []	73036	\N	\N	ncbi_taxonomy	0	EFO	Marmota monax	Marmota monax
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9995	"" []	195774	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Marmota monax
NCBITaxon:9999	\N	\N	"" []	NCBITaxon:9999	"" []	73037	\N	\N	ncbi_taxonomy	0	EFO	Spermophilus parryii	Spermophilus parryii
NCBITaxon:2759	\N	\N	"" []	NCBITaxon:9999	"" []	195775	\N	\N	ncbi_taxonomy	0	EFO	Eukaryota	Spermophilus parryii
PO:0006081	\N	\N	"A root apical meristem that is part of a primary root." []	PO:0006081	"A root apical meristem that is part of a primary root." []	79344	\N	\N	plant_anatomy	0	EFO	primary root apical meristem	primary root apical meristem
PO:0000026	\N	\N	"The portion of the primary root including the meristem and root cap." []	PO:0006081	"A root apical meristem that is part of a primary root." []	195802	\N	\N	plant_anatomy	0	EFO	primary root tip {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	primary root apical meristem
PO:0020147	\N	\N	"" []	PO:0006081	"A root apical meristem that is part of a primary root." []	195803	\N	\N	plant_anatomy	0	EFO	root apical meristem	primary root apical meristem
PO:0020147	\N	\N	"" []	PO:0006081	"A root apical meristem that is part of a primary root." []	195804	\N	\N	plant_anatomy	0	EFO	root apical meristem	primary root apical meristem
PO:0006339	\N	\N	"A vascular leaf that is distinct from adult leaves, being characterized by particular anatomical traits namely, wax and trichome distribution, presence or absence of epidermal cell types, cell wall shape and biochemistry. [ http://www.gramene.org/db/searches/browser?search_type=All&RGN=on&query=Pankaj_Jaiswal http://maizegdb.org/gene_center/gene/lv ] " []	PO:0006339	"A vascular leaf that is distinct from adult leaves, being characterized by particular anatomical traits namely, wax and trichome distribution, presence or absence of epidermal cell types, cell wall shape and biochemistry. [ http://www.gramene.org/db/searches/browser?search_type=All&RGN=on&query=Pankaj_Jaiswal http://maizegdb.org/gene_center/gene/lv ] " []	79349	\N	\N	plant_anatomy	0	EFO	juvenile vascular leaf	juvenile vascular leaf
PO:0009025	\N	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0006339	"A vascular leaf that is distinct from adult leaves, being characterized by particular anatomical traits namely, wax and trichome distribution, presence or absence of epidermal cell types, cell wall shape and biochemistry. [ http://www.gramene.org/db/searches/browser?search_type=All&RGN=on&query=Pankaj_Jaiswal http://maizegdb.org/gene_center/gene/lv ] " []	195807	\N	\N	plant_anatomy	0	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	juvenile vascular leaf
PO:0009025	\N	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0006339	"A vascular leaf that is distinct from adult leaves, being characterized by particular anatomical traits namely, wax and trichome distribution, presence or absence of epidermal cell types, cell wall shape and biochemistry. [ http://www.gramene.org/db/searches/browser?search_type=All&RGN=on&query=Pankaj_Jaiswal http://maizegdb.org/gene_center/gene/lv ] " []	195808	\N	\N	plant_anatomy	0	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	juvenile vascular leaf
PO:0009052	\N	\N	"An inflorescence branch (PO:0009081) that supports an individual flower in an inflorescence (PO:0009049)." []	PO:0009052	"An inflorescence branch (PO:0009081) that supports an individual flower in an inflorescence (PO:0009049)." []	79441	\N	\N	plant_anatomy	0	EFO	pedicel	pedicel
PO:0009047	\N	\N	"A shoot axis (PO:0025029) that is the primary axis of a plant." []	PO:0009052	"An inflorescence branch (PO:0009081) that supports an individual flower in an inflorescence (PO:0009049)." []	195832	\N	\N	plant_anatomy	0	EFO	stem {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pedicel
PO:0009081	\N	\N	"An inflorescence axis (PO:0020122) that is a branch (PO:0009081) arising from a first order inflorescence axis (PO:0025104) or from a higher order inflorescence branch." [POC:Laurel_Cooper]	PO:0009052	"An inflorescence branch (PO:0009081) that supports an individual flower in an inflorescence (PO:0009049)." []	195833	\N	Angiosperm	plant_anatomy	0	EFO	inflorescence branch	pedicel
PO:0009084	\N	\N	"A portion of plant tissue (PO:0009007) that is the outer layer (wall) of a fruit (PO:0009001), and develops from a plant ovary (PO:0009072) or a carpel (PO:0009030) wall." []	PO:0009084	"A portion of plant tissue (PO:0009007) that is the outer layer (wall) of a fruit (PO:0009001), and develops from a plant ovary (PO:0009072) or a carpel (PO:0009030) wall." []	79450	\N	\N	plant_anatomy	0	EFO	pericarp	pericarp
EFO:0000789	\N	\N	"" []	PO:0009084	"A portion of plant tissue (PO:0009007) that is the outer layer (wall) of a fruit (PO:0009001), and develops from a plant ovary (PO:0009072) or a carpel (PO:0009030) wall." []	195838	\N	\N	plant_anatomy	0	EFO	plant component	pericarp
PO:0009001	\N	\N	"A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062) and may have as parts one or more seeds (PO:0009010)." []	PO:0009084	"A portion of plant tissue (PO:0009007) that is the outer layer (wall) of a fruit (PO:0009001), and develops from a plant ovary (PO:0009072) or a carpel (PO:0009030) wall." []	195839	\N	\N	plant_anatomy	0	EFO	fruit {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pericarp
PO:0009007	\N	\N	"A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types." []	PO:0009084	"A portion of plant tissue (PO:0009007) that is the outer layer (wall) of a fruit (PO:0009001), and develops from a plant ovary (PO:0009072) or a carpel (PO:0009030) wall." []	195840	\N	\N	plant_anatomy	0	EFO	portion of plant tissue {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	pericarp
PO:0025131	\N	\N	"An anatomical entity that is or was part of a plant." []	PO:0009084	"A portion of plant tissue (PO:0009007) that is the outer layer (wall) of a fruit (PO:0009001), and develops from a plant ovary (PO:0009072) or a carpel (PO:0009030) wall." []	195841	\N	\N	plant_anatomy	0	EFO	plant anatomical entity	pericarp
PO:0020038	\N	\N	"A stalk of a leaf." []	PO:0020038	"A stalk of a leaf." []	79459	\N	\N	plant_anatomy	0	EFO	petiole	petiole
EFO:0001948	\N	\N	"A shoot component is a plant component which is specifically part of a plant shoot." []	PO:0020038	"A stalk of a leaf." []	195844	\N	\N	plant_anatomy	0	EFO	shoot component	petiole
PO:0009025	\N	\N	"A leaf (PO:0025034) in a vascular plant." []	PO:0020038	"A stalk of a leaf." []	195845	\N	\N	plant_anatomy	0	EFO	vascular leaf {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	petiole
PO:0025066	\N	\N	"A cardinal organ part (PO:0025001) that is elongated and sub-cylindrical to cylindrical and supports another cardinal organ part." [POC:curators]	PO:0020038	"A stalk of a leaf." []	195846	\N	TraitNet	plant_anatomy	0	EFO	stalk	petiole
PO:0025142	\N	\N	"A phyllome tip (PO:0025141) that is part of a leaf apex (PO:0020137)." []	PO:0025142	"A phyllome tip (PO:0025141) that is part of a leaf apex (PO:0020137)." []	79488	\N	\N	plant_anatomy	0	EFO	leaf tip	leaf tip
EFO:0000789	\N	\N	"" []	PO:0025142	"A phyllome tip (PO:0025141) that is part of a leaf apex (PO:0020137)." []	195862	\N	\N	plant_anatomy	0	EFO	plant component	leaf tip
PO:0025131	\N	\N	"An anatomical entity that is or was part of a plant." []	PO:0025142	"A phyllome tip (PO:0025141) that is part of a leaf apex (PO:0020137)." []	195863	\N	\N	plant_anatomy	0	EFO	plant anatomical entity	leaf tip
PO:0020137	\N	\N	"A phyllome apex (PO:0025139) that is part of a leaf (PO:0025034)." [POC:Ramona_Walls, UMSL:fz]	PO:0025142	"A phyllome tip (PO:0025141) that is part of a leaf apex (PO:0020137)." []	195864	\N	\N	plant_anatomy	0	EFO	leaf apex	leaf tip
PO:0025141	\N	\N	"The apical most portion of a phyllome apex." [POC:Ramona_Walls]	PO:0025142	"A phyllome tip (PO:0025141) that is part of a leaf apex (PO:0020137)." []	195865	\N	\N	plant_anatomy	0	EFO	phyllome tip	leaf tip
EO:0001046	\N	\N	"A phosphate treatment (EO:0001006) involving exposure to limiting amounts or absence of phosphate (CHEBI:18367)." []	EO:0001046	"A phosphate treatment (EO:0001006) involving exposure to limiting amounts or absence of phosphate (CHEBI:18367)." []	71364	\N	\N	plant_enviroment_ontology	0	EFO	limited phosphate treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	limited phosphate treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0001004	\N	\N	"A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." []	EO:0001046	"A phosphate treatment (EO:0001006) involving exposure to limiting amounts or absence of phosphate (CHEBI:18367)." []	194965	\N	\N	plant_enviroment_ontology	0	EFO	inorganic chemical treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	limited phosphate treatment {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}
EO:0007174	\N	\N	"The treatment involving an exposure to cold or sub-optimal temperature, which may depend on the study type or the regional environment." []	EO:0007174	"The treatment involving an exposure to cold or sub-optimal temperature, which may depend on the study type or the regional environment." []	71382	\N	\N	plant_environment_ontology	0	EFO	cold temperature regimen	cold temperature regimen
EO:0007191	\N	\N	"A plant treatment (EO:0001001) involving the application of chemical or non-biological factors." []	EO:0007174	"The treatment involving an exposure to cold or sub-optimal temperature, which may depend on the study type or the regional environment." []	194966	\N	\N	plant_environment_ontology	0	EFO	abiotic plant treatment	cold temperature regimen
EO:0007231	\N	\N	"A plant experimental condition (EO:0007359) or set of conditions describing what kind of plant growth facility was used for the experiment.\\n" []	EO:0007231	"A plant experimental condition (EO:0007359) or set of conditions describing what kind of plant growth facility was used for the experiment.\\n" []	71392	\N	\N	plant_environment_ontology	0	EFO	study type (plant)	study type (plant)
IAO:0000030	\N	\N	"An information entity is an entity that represents information about some other entity.  For example, a measurement, a clustered data set." []	EO:0007231	"A plant experimental condition (EO:0007359) or set of conditions describing what kind of plant growth facility was used for the experiment.\\n" []	194967	\N	\N	plant_environment_ontology	0	EFO	information entity	study type (plant)
EO:0007248	\N	\N	"The treatment where the plants were grown under green house conditions. This may involve supplemental treatments in addition to any standard conditions." []	EO:0007248	"The treatment where the plants were grown under green house conditions. This may involve supplemental treatments in addition to any standard conditions." []	71394	\N	\N	plant_environment_ontology	0	EFO	green house study	green house study
EO:0007231	EO:0007248	\N	"A plant experimental condition (EO:0007359) or set of conditions describing what kind of plant growth facility was used for the experiment.\\n" []	EO:0007248	"The treatment where the plants were grown under green house conditions. This may involve supplemental treatments in addition to any standard conditions." []	226149	\N	\N	plant_environment_ontology	1	EFO	study type (plant)	green house study
EO:0007256	\N	\N	"The treatment where the plants were grown under field conditions. This may involve supplemental treatments in addition to any naturally occurring conditions." []	EO:0007256	"The treatment where the plants were grown under field conditions. This may involve supplemental treatments in addition to any naturally occurring conditions." []	71395	\N	\N	plant_environment_ontology	0	EFO	field study	field study
EO:0007231	EO:0007256	\N	"A plant experimental condition (EO:0007359) or set of conditions describing what kind of plant growth facility was used for the experiment.\\n" []	EO:0007256	"The treatment where the plants were grown under field conditions. This may involve supplemental treatments in addition to any naturally occurring conditions." []	226150	\N	\N	plant_environment_ontology	1	EFO	study type (plant)	field study
EO:0007404	\N	\N	"an environment in plant experiments to understand how plants respond to episodic drought and watering pulse by depriving the plants of water supply" []	EO:0007404	"an environment in plant experiments to understand how plants respond to episodic drought and watering pulse by depriving the plants of water supply" []	71402	\N	\N	plant_environment_ontology	0	EFO	drought environment	drought environment
EO:0001001	\N	\N	"A plant environment involving the application of an abiotic or biotic treatment." []	EO:0007404	"an environment in plant experiments to understand how plants respond to episodic drought and watering pulse by depriving the plants of water supply" []	194969	\N	\N	plant_environment_ontology	0	EFO	plant treatment	drought environment
UBERON:0000002	\N	efo_slim,uberon_slim	"Lower, narrow portion of the uterus where it joins with the top end of the vagina." [UBERON:cjm, Wikipedia:Cervix]	UBERON:0000002	"Lower, narrow portion of the uterus where it joins with the top end of the vagina." [UBERON:cjm, Wikipedia:Cervix]	79519	\N	efo_slim,uberon_slim	uberon	0	EFO	uterine cervix	uterine cervix
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0000002	"Lower, narrow portion of the uterus where it joins with the top end of the vagina." [UBERON:cjm, Wikipedia:Cervix]	195874	\N	\N	uberon	0	EFO	animal component	uterine cervix
UBERON:0000006	\N	efo_slim,uberon_slim	"Regions of the pancreas that contain its endocrine (i.e., hormone-producing) cells." [Wikipedia:Islets_of_Langerhans]	UBERON:0000006	"Regions of the pancreas that contain its endocrine (i.e., hormone-producing) cells." [Wikipedia:Islets_of_Langerhans]	79521	\N	efo_slim,uberon_slim	uberon	0	EFO	islet of Langerhans	islet of Langerhans
UBERON:6007435	\N	efo_slim,uberon_slim	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0000006	"Regions of the pancreas that contain its endocrine (i.e., hormone-producing) cells." [Wikipedia:Islets_of_Langerhans]	195876	\N	\N	uberon	0	EFO	endocrine system component	islet of Langerhans
UBERON:0000007	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]." [Wikipedia:Pituitary_gland, ZFIN:curator]	UBERON:0000007	"The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]." [Wikipedia:Pituitary_gland, ZFIN:curator]	79522	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	pituitary gland	pituitary gland
UBERON:6007435	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0000007	"The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]." [Wikipedia:Pituitary_gland, ZFIN:curator]	195877	\N	\N	uberon	0	EFO	endocrine system component	pituitary gland
UBERON:0002530	UBERON:0000007	efo_slim,organ_slim,uberon_slim,vertebrate_core	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0000007	"The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]." [Wikipedia:Pituitary_gland, ZFIN:curator]	225247	efo_slim,organ_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim	uberon	1	EFO	gland	pituitary gland
UBERON:0000010	\N	efo_slim,uberon_slim,vertebrate_core	"Nervous structures including ganglia outside of the central nervous system. Divided into somatic nervous system and autonomic nervous system" [FB:gg, OMD:peripheral+nervous+system, Wikipedia:Peripheral_nervous_system, ZFIN:curator]	UBERON:0000010	"Nervous structures including ganglia outside of the central nervous system. Divided into somatic nervous system and autonomic nervous system" [FB:gg, OMD:peripheral+nervous+system, Wikipedia:Peripheral_nervous_system, ZFIN:curator]	79523	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	peripheral nervous system	peripheral nervous system
UBERON:0000467	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0000010	"Nervous structures including ganglia outside of the central nervous system. Divided into somatic nervous system and autonomic nervous system" [FB:gg, OMD:peripheral+nervous+system, Wikipedia:Peripheral_nervous_system, ZFIN:curator]	195878	\N	\N	uberon	0	EFO	anatomical system	peripheral nervous system
UBERON:0000011	\N	efo_slim,uberon_slim,vertebrate_core	"The parasympathetic nervous system (PSNS) is a division of the autonomic nervous system (ANS), along with the sympathetic nervous system (SNS) and enteric nervous system (ENS). The ANS is a subdivision of the peripheral nervous system (PNS). ANS sends fibers to three tissues: cardiac muscle, smooth muscle, or glandular tissue. This stimulation, sympathetic or parasympathetic, is to control smooth muscle contraction, regulate cardiac muscle, or stimulate or inhibit glandular secretion [Wikipedia]. The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia [GO]." [Wikipedia:Parasympathetic_nervous_system]	UBERON:0000011	"The parasympathetic nervous system (PSNS) is a division of the autonomic nervous system (ANS), along with the sympathetic nervous system (SNS) and enteric nervous system (ENS). The ANS is a subdivision of the peripheral nervous system (PNS). ANS sends fibers to three tissues: cardiac muscle, smooth muscle, or glandular tissue. This stimulation, sympathetic or parasympathetic, is to control smooth muscle contraction, regulate cardiac muscle, or stimulate or inhibit glandular secretion [Wikipedia]. The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia [GO]." [Wikipedia:Parasympathetic_nervous_system]	79524	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	parasympathetic nervous system	parasympathetic nervous system
UBERON:0000467	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0000011	"The parasympathetic nervous system (PSNS) is a division of the autonomic nervous system (ANS), along with the sympathetic nervous system (SNS) and enteric nervous system (ENS). The ANS is a subdivision of the peripheral nervous system (PNS). ANS sends fibers to three tissues: cardiac muscle, smooth muscle, or glandular tissue. This stimulation, sympathetic or parasympathetic, is to control smooth muscle contraction, regulate cardiac muscle, or stimulate or inhibit glandular secretion [Wikipedia]. The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia [GO]." [Wikipedia:Parasympathetic_nervous_system]	195879	\N	\N	uberon	0	EFO	anatomical system	parasympathetic nervous system
UBERON:0000013	\N	efo_slim,uberon_slim,vertebrate_core	"The Sympathetic Nervous System (SNS) is a branch of the autonomic nervous system along with the enteric nervous system and parasympathetic nervous system. It is always active at a basal level (called sympathetic tone) and becomes more active during times of stress. Its actions during the stress response comprise the fight-or-flight response [Wikipedia]. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO]." [Wikipedia:Sympathetic_nervous_system]	UBERON:0000013	"The Sympathetic Nervous System (SNS) is a branch of the autonomic nervous system along with the enteric nervous system and parasympathetic nervous system. It is always active at a basal level (called sympathetic tone) and becomes more active during times of stress. Its actions during the stress response comprise the fight-or-flight response [Wikipedia]. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO]." [Wikipedia:Sympathetic_nervous_system]	79525	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	sympathetic nervous system	sympathetic nervous system
UBERON:0000467	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0000013	"The Sympathetic Nervous System (SNS) is a branch of the autonomic nervous system along with the enteric nervous system and parasympathetic nervous system. It is always active at a basal level (called sympathetic tone) and becomes more active during times of stress. Its actions during the stress response comprise the fight-or-flight response [Wikipedia]. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO]." [Wikipedia:Sympathetic_nervous_system]	195880	\N	\N	uberon	0	EFO	anatomical system	sympathetic nervous system
UBERON:0000016	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin[GO]." [GOC:GO, Wikipedia:Islets_of_Langerhans]	UBERON:0000016	"The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin[GO]." [GOC:GO, Wikipedia:Islets_of_Langerhans]	79527	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	endocrine pancreas	endocrine pancreas
CL:0000151	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"A cell that specializes in controlled release of one or more substances." []	UBERON:0000016	"The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin[GO]." [GOC:GO, Wikipedia:Islets_of_Langerhans]	195881	\N	\N	uberon	0	EFO	secretory cell	endocrine pancreas
UBERON:6007435	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0000016	"The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin[GO]." [GOC:GO, Wikipedia:Islets_of_Langerhans]	195882	\N	\N	uberon	0	EFO	endocrine system component	endocrine pancreas
UBERON:0000022	\N	efo_slim,uberon_slim	"one of the epidermal growths that form the distinctive outer covering, or plumage, on birds. Feathers are formed in tiny follicles in the epidermis, or outer skin layer, that produce keratin proteins. The ?-keratins in feathers, beaks and claws  and the claws, scales and shells of reptiles  are composed of protein strands hydrogen-bonded into ?-pleated sheets, which are then further twisted and crosslinked by disulfide bridges into structures even tougher than the ?-keratins of mammalian hair, horns and hoof. The exact signals that induce the growth of feathers on the skin are not known but it has been found that the transcription factor cDermo-1 induces the growth of feathers on skin and scales on the leg." [Wikipedia:Feather]	UBERON:0000022	"one of the epidermal growths that form the distinctive outer covering, or plumage, on birds. Feathers are formed in tiny follicles in the epidermis, or outer skin layer, that produce keratin proteins. The ?-keratins in feathers, beaks and claws  and the claws, scales and shells of reptiles  are composed of protein strands hydrogen-bonded into ?-pleated sheets, which are then further twisted and crosslinked by disulfide bridges into structures even tougher than the ?-keratins of mammalian hair, horns and hoof. The exact signals that induce the growth of feathers on the skin are not known but it has been found that the transcription factor cDermo-1 induces the growth of feathers on skin and scales on the leg." [Wikipedia:Feather]	79528	\N	efo_slim,uberon_slim	uberon	0	EFO	feather	feather
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0000022	"one of the epidermal growths that form the distinctive outer covering, or plumage, on birds. Feathers are formed in tiny follicles in the epidermis, or outer skin layer, that produce keratin proteins. The ?-keratins in feathers, beaks and claws  and the claws, scales and shells of reptiles  are composed of protein strands hydrogen-bonded into ?-pleated sheets, which are then further twisted and crosslinked by disulfide bridges into structures even tougher than the ?-keratins of mammalian hair, horns and hoof. The exact signals that induce the growth of feathers on the skin are not known but it has been found that the transcription factor cDermo-1 induces the growth of feathers on skin and scales on the leg." [Wikipedia:Feather]	195883	\N	\N	uberon	0	EFO	animal component	feather
UBERON:0000023	\N	efo_slim,grouping_class,uberon_slim	"Appendage that is used to produce lift for flight through the air." [Wikipedia:Wing]	UBERON:0000023	"Appendage that is used to produce lift for flight through the air." [Wikipedia:Wing]	79529	\N	efo_slim,grouping_class,uberon_slim	uberon	0	EFO	wing	wing
UBERON:0000026	UBERON:0000023	efo_slim,grouping_class,uberon_slim	"Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS]	UBERON:0000023	"Appendage that is used to produce lift for flight through the air." [Wikipedia:Wing]	225248	efo_slim,grouping_class,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	appendage	wing
UBERON:0000026	\N	efo_slim,uberon_slim	"Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS]	UBERON:0000026	"Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS]	79530	\N	efo_slim,uberon_slim	uberon	0	EFO	appendage	appendage
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0000026	"Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS]	195884	\N	\N	uberon	0	EFO	animal component	appendage
UBERON:0000029	\N	efo_slim,uberon_slim,vertebrate_core	"Oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system. Lymph nodes are garrisons of B, T, and other immune cells. Lymph nodes are found all through the body, and act as filters or traps for foreign particles. They contain white blood cells that use oxygen to process. Thus they are important in the proper functioning of the immune system. The lymph node is surrounded by a fibrous capsule, and inside the lymph node the fibrous capsule extends to form trabeculae. The substance of the lymph node is divided into the outer cortex and the inner medulla surrounded by the former all around except for at the hilum, where the medulla comes in direct contact with the surface. Thin reticular fibers, elastin and reticular fibers form a supporting meshwork called reticular network (RN) inside the node, within which the white blood cells (WBCs), most prominently, lymphocytes are tightly packed as follicles in the cortex. Elsewhere, there are only occasional WBCs. The RN provides not just the structural support, but also provide surface for adhesion of the dendritic cells, macrophages and lymphocytes. It allows for exchange of material with blood through the high endothelial venules and provides the growth and regulatory factors necessary for activation and maturation of immune cells[WP]." [GAID:947, Wikipedia:Lymph_node]	UBERON:0000029	"Oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system. Lymph nodes are garrisons of B, T, and other immune cells. Lymph nodes are found all through the body, and act as filters or traps for foreign particles. They contain white blood cells that use oxygen to process. Thus they are important in the proper functioning of the immune system. The lymph node is surrounded by a fibrous capsule, and inside the lymph node the fibrous capsule extends to form trabeculae. The substance of the lymph node is divided into the outer cortex and the inner medulla surrounded by the former all around except for at the hilum, where the medulla comes in direct contact with the surface. Thin reticular fibers, elastin and reticular fibers form a supporting meshwork called reticular network (RN) inside the node, within which the white blood cells (WBCs), most prominently, lymphocytes are tightly packed as follicles in the cortex. Elsewhere, there are only occasional WBCs. The RN provides not just the structural support, but also provide surface for adhesion of the dendritic cells, macrophages and lymphocytes. It allows for exchange of material with blood through the high endothelial venules and provides the growth and regulatory factors necessary for activation and maturation of immune cells[WP]." [GAID:947, Wikipedia:Lymph_node]	79531	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	lymph node	lymph node
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000029	"Oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system. Lymph nodes are garrisons of B, T, and other immune cells. Lymph nodes are found all through the body, and act as filters or traps for foreign particles. They contain white blood cells that use oxygen to process. Thus they are important in the proper functioning of the immune system. The lymph node is surrounded by a fibrous capsule, and inside the lymph node the fibrous capsule extends to form trabeculae. The substance of the lymph node is divided into the outer cortex and the inner medulla surrounded by the former all around except for at the hilum, where the medulla comes in direct contact with the surface. Thin reticular fibers, elastin and reticular fibers form a supporting meshwork called reticular network (RN) inside the node, within which the white blood cells (WBCs), most prominently, lymphocytes are tightly packed as follicles in the cortex. Elsewhere, there are only occasional WBCs. The RN provides not just the structural support, but also provide surface for adhesion of the dendritic cells, macrophages and lymphocytes. It allows for exchange of material with blood through the high endothelial venules and provides the growth and regulatory factors necessary for activation and maturation of immune cells[WP]." [GAID:947, Wikipedia:Lymph_node]	195885	\N	\N	uberon	0	EFO	animal component	lymph node
UBERON:0000033	\N	efo_slim,uberon_slim,vertebrate_core	"The head is the anterior-most division of the body [GO]." [GO:0060322, Wikipedia:Head]	UBERON:0000033	"The head is the anterior-most division of the body [GO]." [GO:0060322, Wikipedia:Head]	79532	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	head	head
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000033	"The head is the anterior-most division of the body [GO]." [GO:0060322, Wikipedia:Head]	195886	\N	\N	uberon	0	EFO	animal component	head
UBERON:0000044	\N	efo_slim,uberon_slim,vertebrate_core	"ganglion on the dorsal root of each spinal nerve that is one of a series of ganglia lodging cell bodies of sensory neurons[BTO]. Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves[..]. one on the posterior root of each spinal nerve, composed of unipolar nerve cell bodies of the sensory neurons of the nerve[TFD]." [Wikipedia:Dorsal_root_ganglion]	UBERON:0000044	"ganglion on the dorsal root of each spinal nerve that is one of a series of ganglia lodging cell bodies of sensory neurons[BTO]. Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves[..]. one on the posterior root of each spinal nerve, composed of unipolar nerve cell bodies of the sensory neurons of the nerve[TFD]." [Wikipedia:Dorsal_root_ganglion]	79533	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	dorsal root ganglion	dorsal root ganglion
UBERON:0000045	UBERON:0000044	efo_slim,uberon_slim,vertebrate_core	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	UBERON:0000044	"ganglion on the dorsal root of each spinal nerve that is one of a series of ganglia lodging cell bodies of sensory neurons[BTO]. Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves[..]. one on the posterior root of each spinal nerve, composed of unipolar nerve cell bodies of the sensory neurons of the nerve[TFD]." [Wikipedia:Dorsal_root_ganglion]	225249	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	ganglion	dorsal root ganglion
UBERON:0000045	\N	efo_slim,uberon_slim,vertebrate_core	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	UBERON:0000045	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	79534	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	ganglion	ganglion
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000045	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	195887	\N	\N	uberon	0	EFO	animal component	ganglion
UBERON:0000055	\N	grouping_class	"" []	UBERON:0000055	"" []	79535	\N	grouping_class	uberon	0	EFO	vessel	vessel
EFO:0000787	\N	grouping_class	"" []	UBERON:0000055	"" []	195888	\N	\N	uberon	0	EFO	animal component	vessel
UBERON:0000056	\N	efo_slim,major_organ,organ_slim,uberon_slim	"Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. In humans, organ with organ cavity which connects the renal sinus to the urinary bladder. Examples: the right and the left ureters." [FMA:9704, GO:0090189, Wikipedia:Ureter]	UBERON:0000056	"Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. In humans, organ with organ cavity which connects the renal sinus to the urinary bladder. Examples: the right and the left ureters." [FMA:9704, GO:0090189, Wikipedia:Ureter]	79536	\N	efo_slim,major_organ,organ_slim,uberon_slim	uberon	0	EFO	ureter	ureter
EFO:0000787	\N	efo_slim,major_organ,organ_slim,uberon_slim	"" []	UBERON:0000056	"Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. In humans, organ with organ cavity which connects the renal sinus to the urinary bladder. Examples: the right and the left ureters." [FMA:9704, GO:0090189, Wikipedia:Ureter]	195889	\N	\N	uberon	0	EFO	animal component	ureter
UBERON:0000057	\N	efo_slim,major_organ,organ_slim,uberon_slim	"A tube which connects the urinary bladder to the outside of the body. In males, the urethra travels through the penis, and carries semen as well as urine. In females, the urethra is shorter and emerges above the vaginal opening. The external urethral sphincter is a striated muscle that allows voluntary control over urination." [Wikipedia:Urethra]	UBERON:0000057	"A tube which connects the urinary bladder to the outside of the body. In males, the urethra travels through the penis, and carries semen as well as urine. In females, the urethra is shorter and emerges above the vaginal opening. The external urethral sphincter is a striated muscle that allows voluntary control over urination." [Wikipedia:Urethra]	79537	\N	efo_slim,major_organ,organ_slim,uberon_slim	uberon	0	EFO	urethra	urethra
EFO:0000787	\N	efo_slim,major_organ,organ_slim,uberon_slim	"" []	UBERON:0000057	"A tube which connects the urinary bladder to the outside of the body. In males, the urethra travels through the penis, and carries semen as well as urine. In females, the urethra is shorter and emerges above the vaginal opening. The external urethral sphincter is a striated muscle that allows voluntary control over urination." [Wikipedia:Urethra]	195890	\N	\N	uberon	0	EFO	animal component	urethra
UBERON:0000059	\N	efo_slim,major_organ,organ_slim	"A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]." [ISBN10:0073040584, Wikipedia:Large_intestine_(anatomy)]	UBERON:0000059	"A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]." [ISBN10:0073040584, Wikipedia:Large_intestine_(anatomy)]	79538	\N	efo_slim,major_organ,organ_slim	uberon	0	EFO	large intestine	large intestine
UBERON:0001007	UBERON:0000059	efo_slim,major_organ,organ_slim	"Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes." [FB:gg, NLM:alimentary+system, Wikipedia:Digestive_system]	UBERON:0000059	"A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]." [ISBN10:0073040584, Wikipedia:Large_intestine_(anatomy)]	225250	efo_slim,major_organ,organ_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	digestive system	large intestine
UBERON:0000069	\N	efo_slim	"a distinct juvenile stage many animals undergo before metamorphosis into adults. Animals with indirect development such as insects, amphibians, or cnidarians typically have a larval phase of their life cycle." [Wikipedia:Larva]	UBERON:0000069	"a distinct juvenile stage many animals undergo before metamorphosis into adults. Animals with indirect development such as insects, amphibians, or cnidarians typically have a larval phase of their life cycle." [Wikipedia:Larva]	79539	\N	efo_slim	uberon	0	EFO	larval stage	larval stage
EFO:0000399	\N	efo_slim	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	UBERON:0000069	"a distinct juvenile stage many animals undergo before metamorphosis into adults. Animals with indirect development such as insects, amphibians, or cnidarians typically have a larval phase of their life cycle." [Wikipedia:Larva]	195891	\N	\N	uberon	0	EFO	developmental stage	larval stage
EFO:0000787	\N	efo_slim	"" []	UBERON:0000069	"a distinct juvenile stage many animals undergo before metamorphosis into adults. Animals with indirect development such as insects, amphibians, or cnidarians typically have a larval phase of their life cycle." [Wikipedia:Larva]	195892	\N	\N	uberon	0	EFO	animal component	larval stage
UBERON:0000074	\N	efo_slim,vertebrate_core	"A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]." [MP:0005325, Wikipedia:Glomerulus]	UBERON:0000074	"A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]." [MP:0005325, Wikipedia:Glomerulus]	79540	\N	efo_slim,vertebrate_core	uberon	0	EFO	renal glomerulus	renal glomerulus
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0000074	"A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]." [MP:0005325, Wikipedia:Glomerulus]	195893	\N	\N	uberon	0	EFO	zebrafish component	renal glomerulus
UBERON:0000079	\N	efo_slim	"the organs associated with producing offspring in the gender that produces spermatozoa." [MP:0001145]	UBERON:0000079	"the organs associated with producing offspring in the gender that produces spermatozoa." [MP:0001145]	79541	\N	efo_slim	uberon	0	EFO	male reproductive system	male reproductive system
UBERON:0000990	UBERON:0000079	efo_slim	"Anatomical system that has as its parts the organs concerned with reproduction." [Wikipedia:Reproductive_system]	UBERON:0000079	"the organs associated with producing offspring in the gender that produces spermatozoa." [MP:0001145]	225251	efo_slim	efo_slim,functional_classification,uberon_slim,vertebrate_core	uberon	1	EFO	reproductive system	male reproductive system
UBERON:0004122	UBERON:0000990	efo_slim	"Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction." [VHOG:0000286]	UBERON:0000079	"the organs associated with producing offspring in the gender that produces spermatozoa." [MP:0001145]	582140	efo_slim,functional_classification,uberon_slim,vertebrate_core	efo_slim	uberon	2	EFO	genitourinary system	male reproductive system
UBERON:0000080	\N	efo_slim,organ_slim,vertebrate_core	"In mammals, the mesonephros is the second of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the mesonephros will form the mature kidney[GO]. One of three excretory organs that develop in vertebrates. It serves as the main excretory organ of aquatic vertebrates and as a temporary kidney in higher vertebrates. composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo." [GO:0001823, Wikipedia:Mesonephros]	UBERON:0000080	"In mammals, the mesonephros is the second of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the mesonephros will form the mature kidney[GO]. One of three excretory organs that develop in vertebrates. It serves as the main excretory organ of aquatic vertebrates and as a temporary kidney in higher vertebrates. composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo." [GO:0001823, Wikipedia:Mesonephros]	79542	\N	efo_slim,organ_slim,vertebrate_core	uberon	0	EFO	mesonephros	mesonephros
UBERON:0002113	UBERON:0000080	efo_slim,organ_slim,vertebrate_core	"A paired organ which has the production of urine as its primary function." [Wikipedia:Kidney]	UBERON:0000080	"In mammals, the mesonephros is the second of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the mesonephros will form the mature kidney[GO]. One of three excretory organs that develop in vertebrates. It serves as the main excretory organ of aquatic vertebrates and as a temporary kidney in higher vertebrates. composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo." [GO:0001823, Wikipedia:Mesonephros]	225252	efo_slim,organ_slim,vertebrate_core	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	uberon	1	EFO	kidney	mesonephros
UBERON:0000087	\N	early_development,efo_slim	"Mass of cells inside the primordial embryo that will eventually give rise to the definitive structures of the fetus. This structure forms in the earliest steps of development, before implantation into the endometrium of the uterus has occurred. The ICM lies within the blastocoele (more correctly termed 'blastocyst cavity', as it is not strictly homologous to the blastocoele of anamniote vertebrates) and is entirely surrounded by the single layer of cells called trophoblast." [Wikipedia:Inner_cell_mass]	UBERON:0000087	"Mass of cells inside the primordial embryo that will eventually give rise to the definitive structures of the fetus. This structure forms in the earliest steps of development, before implantation into the endometrium of the uterus has occurred. The ICM lies within the blastocoele (more correctly termed 'blastocyst cavity', as it is not strictly homologous to the blastocoele of anamniote vertebrates) and is entirely surrounded by the single layer of cells called trophoblast." [Wikipedia:Inner_cell_mass]	79543	\N	early_development,efo_slim	uberon	0	EFO	inner cell mass	inner cell mass
CL:0002321	\N	early_development,efo_slim	"A cell of the embryo." []	UBERON:0000087	"Mass of cells inside the primordial embryo that will eventually give rise to the definitive structures of the fetus. This structure forms in the earliest steps of development, before implantation into the endometrium of the uterus has occurred. The ICM lies within the blastocoele (more correctly termed 'blastocyst cavity', as it is not strictly homologous to the blastocoele of anamniote vertebrates) and is entirely surrounded by the single layer of cells called trophoblast." [Wikipedia:Inner_cell_mass]	195894	\N	\N	uberon	0	EFO	embryonic cell	inner cell mass
UBERON:0002050	UBERON:0000087	early_development,efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0000087	"Mass of cells inside the primordial embryo that will eventually give rise to the definitive structures of the fetus. This structure forms in the earliest steps of development, before implantation into the endometrium of the uterus has occurred. The ICM lies within the blastocoele (more correctly termed 'blastocyst cavity', as it is not strictly homologous to the blastocoele of anamniote vertebrates) and is entirely surrounded by the single layer of cells called trophoblast." [Wikipedia:Inner_cell_mass]	225253	early_development,efo_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	inner cell mass
UBERON:0000107	\N	efo_slim	"The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula." [GO:0040016, Wikipedia:Cleavage_(embryo)]	UBERON:0000107	"The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula." [GO:0040016, Wikipedia:Cleavage_(embryo)]	79545	\N	efo_slim	uberon	0	EFO	cleavage stage	cleavage stage
EFO:0000399	\N	efo_slim	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	UBERON:0000107	"The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula." [GO:0040016, Wikipedia:Cleavage_(embryo)]	195896	\N	\N	uberon	0	EFO	developmental stage	cleavage stage
EFO:0000787	\N	efo_slim	"" []	UBERON:0000107	"The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula." [GO:0040016, Wikipedia:Cleavage_(embryo)]	195897	\N	\N	uberon	0	EFO	animal component	cleavage stage
UBERON:0000108	\N	efo_slim	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	UBERON:0000108	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	79546	\N	efo_slim	uberon	0	EFO	blastula stage	blastula stage
EFO:0000787	\N	efo_slim	"" []	UBERON:0000108	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	195898	\N	\N	uberon	0	EFO	animal component	blastula stage
UBERON:0000109	\N	efo_slim	"A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." [GO:0007369]	UBERON:0000109	"A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." [GO:0007369]	79547	\N	efo_slim	uberon	0	EFO	gastrula stage	gastrula stage
EFO:0000399	\N	efo_slim	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	UBERON:0000109	"A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." [GO:0007369]	195899	\N	\N	uberon	0	EFO	developmental stage	gastrula stage
EFO:0000787	\N	efo_slim	"" []	UBERON:0000109	"A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." [GO:0007369]	195900	\N	\N	uberon	0	EFO	animal component	gastrula stage
UBERON:0000112	\N	efo_slim	"" []	UBERON:0000112	"" []	79548	\N	efo_slim	uberon	0	EFO	sexually immature stage	sexually immature stage
EFO:0000399	\N	efo_slim	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	UBERON:0000112	"" []	195901	\N	\N	uberon	0	EFO	developmental stage	sexually immature stage
UBERON:0000152	\N	efo_slim	"Paired fin located in the abdominal position of the body." [TAO:curator, VSAO:0000129]	UBERON:0000152	"Paired fin located in the abdominal position of the body." [TAO:curator, VSAO:0000129]	79550	\N	efo_slim	uberon	0	EFO	pelvic fin	pelvic fin
EFO:0003331	\N	efo_slim	"" []	UBERON:0000152	"Paired fin located in the abdominal position of the body." [TAO:curator, VSAO:0000129]	195902	\N	\N	uberon	0	EFO	zebrafish component	pelvic fin
UBERON:0008897	\N	efo_slim	"Surface structure involved in locomotion." []	UBERON:0000152	"Paired fin located in the abdominal position of the body." [TAO:curator, VSAO:0000129]	195903	\N	\N	uberon	0	EFO	fin	pelvic fin
UBERON:0000155	\N	efo_slim,vertebrate_core	"A layer of the ovarian follicles. They appear as the follicles become tertiary follicles. The theca folliculi are responsible for the production of testosterone from androstenedione in females, and indirectly the production of estrogens by supplying the neighboring granulosa cells with androstenedione that can then be used as a substrate for aromatase." [Wikipedia:Theca_of_follicle]	UBERON:0000155	"A layer of the ovarian follicles. They appear as the follicles become tertiary follicles. The theca folliculi are responsible for the production of testosterone from androstenedione in females, and indirectly the production of estrogens by supplying the neighboring granulosa cells with androstenedione that can then be used as a substrate for aromatase." [Wikipedia:Theca_of_follicle]	79551	\N	efo_slim,vertebrate_core	uberon	0	EFO	theca cell layer	theca cell layer
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0000155	"A layer of the ovarian follicles. They appear as the follicles become tertiary follicles. The theca folliculi are responsible for the production of testosterone from androstenedione in females, and indirectly the production of estrogens by supplying the neighboring granulosa cells with androstenedione that can then be used as a substrate for aromatase." [Wikipedia:Theca_of_follicle]	195904	\N	\N	uberon	0	EFO	zebrafish component	theca cell layer
UBERON:0000160	\N	efo_slim,uberon_slim,vertebrate_core	"Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine." [GOC:GO, Wikipedia:Intestine]	UBERON:0000160	"Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine." [GOC:GO, Wikipedia:Intestine]	79552	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	intestine	intestine
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000160	"Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine." [GOC:GO, Wikipedia:Intestine]	195905	\N	\N	uberon	0	EFO	animal component	intestine
UBERON:0000165	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	"The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes teeth, gums, lips, tongue and parts of the palate." [http://purl.obolibrary.org/obo/uberon/references/reference_0000034, Wikipedia:Mouth]	UBERON:0000165	"The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes teeth, gums, lips, tongue and parts of the palate." [http://purl.obolibrary.org/obo/uberon/references/reference_0000034, Wikipedia:Mouth]	79553	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	uberon	0	EFO	mouth	mouth
EFO:0000787	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	"" []	UBERON:0000165	"The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes teeth, gums, lips, tongue and parts of the palate." [http://purl.obolibrary.org/obo/uberon/references/reference_0000034, Wikipedia:Mouth]	195906	\N	\N	uberon	0	EFO	animal component	mouth
UBERON:0000178	\N	efo_slim,uberon_slim,vertebrate_core	"Circulating body substance which consists of blood plasma and hemoglobin-carrying red blood cells. Excludes blood analogues (see UBERON:0000179 haemolymphatic fluid)." [FMA:9670, Wikipedia:Blood]	UBERON:0000178	"Circulating body substance which consists of blood plasma and hemoglobin-carrying red blood cells. Excludes blood analogues (see UBERON:0000179 haemolymphatic fluid)." [FMA:9670, Wikipedia:Blood]	79555	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	blood	blood
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000178	"Circulating body substance which consists of blood plasma and hemoglobin-carrying red blood cells. Excludes blood analogues (see UBERON:0000179 haemolymphatic fluid)." [FMA:9670, Wikipedia:Blood]	195907	\N	\N	uberon	0	EFO	animal component	blood
UBERON:0000211	\N	efo_slim,uberon_slim,vertebrate_core	"Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, VSAO:0000073]	UBERON:0000211	"Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, VSAO:0000073]	79558	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	ligament	ligament
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000211	"Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, VSAO:0000073]	195909	\N	\N	uberon	0	EFO	animal component	ligament
UBERON:0000317	\N	efo_slim	"A mucosa that is part of a colon [Automatically generated definition]." [OBOL:automatic]	UBERON:0000317	"A mucosa that is part of a colon [Automatically generated definition]." [OBOL:automatic]	79560	\N	efo_slim	uberon	0	EFO	colonic mucosa	colonic mucosa
EFO:0000787	\N	efo_slim	"" []	UBERON:0000317	"A mucosa that is part of a colon [Automatically generated definition]." [OBOL:automatic]	195910	\N	\N	uberon	0	EFO	animal component	colonic mucosa
UBERON:0000323	\N	efo_slim	"" []	UBERON:0000323	"" []	79561	\N	efo_slim	uberon	0	EFO	late embryo	late embryo
UBERON:0000922	UBERON:0000323	efo_slim	"Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant." [BTO:0000379, FB:FBrf0039741, FB:FBrf0041814, GO:0009790, Wikipedia:Embryo]	UBERON:0000323	"" []	225254	efo_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	embryo	late embryo
UBERON:0000344	\N	\N	"A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP]" []	UBERON:0000344	"A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP]" []	79562	\N	\N	uberon	0	EFO	mucosa	mucosa
EFO:0000787	\N	\N	"" []	UBERON:0000344	"A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP]" []	195911	\N	\N	uberon	0	EFO	animal component	mucosa
UBERON:0000358	\N	efo_slim	"The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]." [GO:0001824, Wikipedia:Blastocyst]	UBERON:0000358	"The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]." [GO:0001824, Wikipedia:Blastocyst]	79563	\N	efo_slim	uberon	0	EFO	blastocyst	blastocyst
UBERON:0000108	UBERON:0000358	efo_slim	"An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence." [Wikipedia:Blastula]	UBERON:0000358	"The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]." [GO:0001824, Wikipedia:Blastocyst]	225255	efo_slim	efo_slim	uberon	1	EFO	blastula stage	blastocyst
UBERON:0002050	UBERON:0000358	efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0000358	"The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]." [GO:0001824, Wikipedia:Blastocyst]	225256	efo_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	blastocyst
UBERON:0000362	\N	pheno_slim	"the inner portion of the kidney consisting of the renal pyramids" [MP:0003014]	UBERON:0000362	"the inner portion of the kidney consisting of the renal pyramids" [MP:0003014]	79564	\N	pheno_slim	uberon	0	EFO	renal medulla	renal medulla
EFO:0000787	\N	pheno_slim	"" []	UBERON:0000362	"the inner portion of the kidney consisting of the renal pyramids" [MP:0003014]	195912	\N	\N	uberon	0	EFO	animal component	renal medulla
UBERON:0000365	\N	\N	"An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra." []	UBERON:0000365	"An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra." []	79565	\N	\N	uberon	0	EFO	urothelium	urothelium
EFO:0000787	\N	\N	"" []	UBERON:0000365	"An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra." []	195913	\N	\N	uberon	0	EFO	animal component	urothelium
UBERON:0000369	\N	efo_slim	"The corpus striatum (striated body) is a compound structure consisting of the caudate nucleus and the lentiform nucleus, which consists of the putamen and the globus pallidus[WP]." [Wikipedia:Corpus_striatum]	UBERON:0000369	"The corpus striatum (striated body) is a compound structure consisting of the caudate nucleus and the lentiform nucleus, which consists of the putamen and the globus pallidus[WP]." [Wikipedia:Corpus_striatum]	79566	\N	efo_slim	uberon	0	EFO	corpus striatum	corpus striatum
EFO:0000787	\N	efo_slim	"" []	UBERON:0000369	"The corpus striatum (striated body) is a compound structure consisting of the caudate nucleus and the lentiform nucleus, which consists of the putamen and the globus pallidus[WP]." [Wikipedia:Corpus_striatum]	195914	\N	\N	uberon	0	EFO	animal component	corpus striatum
UBERON:0000382	\N	organ_slim,pheno_slim	"Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]." []	UBERON:0000382	"Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]." []	79568	\N	organ_slim,pheno_slim	uberon	0	EFO	apocrine sweat gland	apocrine sweat gland
UBERON:0001820	UBERON:0000382	organ_slim,pheno_slim	"any of the coil glands of the skin that secrete sweat" []	UBERON:0000382	"Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]." []	225257	organ_slim,pheno_slim	organ_slim,pheno_slim,uberon_slim	uberon	1	EFO	sweat gland	apocrine sweat gland
UBERON:0002530	UBERON:0001820	organ_slim,pheno_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0000382	"Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]." []	582141	organ_slim,pheno_slim,uberon_slim	efo_slim,uberon_slim	uberon	2	EFO	gland	apocrine sweat gland
UBERON:0000383	\N	efo_slim	"Anatomical system that consists of all the muscles of the body[VSAO, modified]." [VSAO:0000033]	UBERON:0000383	"Anatomical system that consists of all the muscles of the body[VSAO, modified]." [VSAO:0000033]	79569	\N	efo_slim	uberon	0	EFO	musculature of body	musculature of body
EFO:0000787	\N	efo_slim	"" []	UBERON:0000383	"Anatomical system that consists of all the muscles of the body[VSAO, modified]." [VSAO:0000033]	195915	\N	\N	uberon	0	EFO	animal component	musculature of body
UBERON:0000411	\N	efo_slim	"Area of the occipital lobe concerned with vision." [MESH:A08.186.211.730.885.213.571.735]	UBERON:0000411	"Area of the occipital lobe concerned with vision." [MESH:A08.186.211.730.885.213.571.735]	79570	\N	efo_slim	uberon	0	EFO	visual cortex	visual cortex
EFO:0000787	\N	efo_slim	"" []	UBERON:0000411	"Area of the occipital lobe concerned with vision." [MESH:A08.186.211.730.885.213.571.735]	195916	\N	\N	uberon	0	EFO	animal component	visual cortex
UBERON:0000423	\N	organ_slim,pheno_slim	"A merocrine, unbranched, unbranched, coiled, tubular gland sweat gland. In humans, distributed over almost all of the body surface, and promote cooling by evaporation of their secretion." []	UBERON:0000423	"A merocrine, unbranched, unbranched, coiled, tubular gland sweat gland. In humans, distributed over almost all of the body surface, and promote cooling by evaporation of their secretion." []	79571	\N	organ_slim,pheno_slim	uberon	0	EFO	eccrine sweat gland	eccrine sweat gland
UBERON:0001820	UBERON:0000423	organ_slim,pheno_slim	"any of the coil glands of the skin that secrete sweat" []	UBERON:0000423	"A merocrine, unbranched, unbranched, coiled, tubular gland sweat gland. In humans, distributed over almost all of the body surface, and promote cooling by evaporation of their secretion." []	225258	organ_slim,pheno_slim	organ_slim,pheno_slim,uberon_slim	uberon	1	EFO	sweat gland	eccrine sweat gland
UBERON:0002530	UBERON:0001820	organ_slim,pheno_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0000423	"A merocrine, unbranched, unbranched, coiled, tubular gland sweat gland. In humans, distributed over almost all of the body surface, and promote cooling by evaporation of their secretion." []	582142	organ_slim,pheno_slim,uberon_slim	efo_slim,uberon_slim	uberon	2	EFO	gland	eccrine sweat gland
UBERON:0000451	\N	efo_slim	"The prefrontal cortex (PFC) is the anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas. This brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals. The most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes). Many authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. [WP,unvetted]." [Wikipedia:Prefrontal_cortex]	UBERON:0000451	"The prefrontal cortex (PFC) is the anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas. This brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals. The most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes). Many authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. [WP,unvetted]." [Wikipedia:Prefrontal_cortex]	79573	\N	efo_slim	uberon	0	EFO	prefrontal cortex	prefrontal cortex
EFO:0000787	\N	efo_slim	"" []	UBERON:0000451	"The prefrontal cortex (PFC) is the anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas. This brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals. The most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes). Many authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. [WP,unvetted]." [Wikipedia:Prefrontal_cortex]	195917	\N	\N	uberon	0	EFO	animal component	prefrontal cortex
UBERON:0000453	\N	efo_slim	"Region between the blastocyst and the myometrium." [http://www.med.umich.edu/lrc/coursepages/m1/embryology/embryo/06placenta.htm]	UBERON:0000453	"Region between the blastocyst and the myometrium." [http://www.med.umich.edu/lrc/coursepages/m1/embryology/embryo/06placenta.htm]	79574	\N	efo_slim	uberon	0	EFO	decidua basalis	decidua basalis
EFO:0000787	\N	efo_slim	"" []	UBERON:0000453	"Region between the blastocyst and the myometrium." [http://www.med.umich.edu/lrc/coursepages/m1/embryology/embryo/06placenta.htm]	195918	\N	\N	uberon	0	EFO	animal component	decidua basalis
UBERON:0000473	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"gonad of a male animal, produces and releases sperm." [Wikipedia:Testis]	UBERON:0000473	"gonad of a male animal, produces and releases sperm." [Wikipedia:Testis]	79577	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	testis	testis
EFO:0000787	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000473	"gonad of a male animal, produces and releases sperm." [Wikipedia:Testis]	195919	\N	\N	uberon	0	EFO	animal component	testis
UBERON:0000474	\N	efo_slim,uberon_slim	"The organs of the female reproductive system." [Wikipedia:Female_genitalia]	UBERON:0000474	"The organs of the female reproductive system." [Wikipedia:Female_genitalia]	79578	\N	efo_slim,uberon_slim	uberon	0	EFO	female reproductive system	female reproductive system
UBERON:0000990	UBERON:0000474	efo_slim,uberon_slim	"Anatomical system that has as its parts the organs concerned with reproduction." [Wikipedia:Reproductive_system]	UBERON:0000474	"The organs of the female reproductive system." [Wikipedia:Female_genitalia]	225259	efo_slim,uberon_slim	efo_slim,functional_classification,uberon_slim,vertebrate_core	uberon	1	EFO	reproductive system	female reproductive system
UBERON:0004122	UBERON:0000990	efo_slim,uberon_slim	"Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction." [VHOG:0000286]	UBERON:0000474	"The organs of the female reproductive system." [Wikipedia:Female_genitalia]	582143	efo_slim,functional_classification,uberon_slim,vertebrate_core	efo_slim	uberon	2	EFO	genitourinary system	female reproductive system
UBERON:0000916	\N	efo_slim,uberon_slim	"In vertebrates such as mammals the abdomen (belly) constitutes the part of the body between the thorax (chest) and pelvis. The region enclosed by the abdomen is termed the abdominal cavity." [Wikipedia:Abdomen]	UBERON:0000916	"In vertebrates such as mammals the abdomen (belly) constitutes the part of the body between the thorax (chest) and pelvis. The region enclosed by the abdomen is termed the abdominal cavity." [Wikipedia:Abdomen]	79582	\N	efo_slim,uberon_slim	uberon	0	EFO	abdomen	abdomen
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0000916	"In vertebrates such as mammals the abdomen (belly) constitutes the part of the body between the thorax (chest) and pelvis. The region enclosed by the abdomen is termed the abdominal cavity." [Wikipedia:Abdomen]	195920	\N	\N	uberon	0	EFO	animal component	abdomen
UBERON:0000922	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant." [BTO:0000379, FB:FBrf0039741, FB:FBrf0041814, GO:0009790, Wikipedia:Embryo]	UBERON:0000922	"Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant." [BTO:0000379, FB:FBrf0039741, FB:FBrf0041814, GO:0009790, Wikipedia:Embryo]	79583	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	embryo	embryo
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000922	"Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant." [BTO:0000379, FB:FBrf0039741, FB:FBrf0041814, GO:0009790, Wikipedia:Embryo]	195921	\N	\N	uberon	0	EFO	animal component	embryo
UBERON:0000924	\N	efo_slim,uberon_slim,vertebrate_core	"Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue." [Wikipedia:Ectoderm]	UBERON:0000924	"Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue." [Wikipedia:Ectoderm]	79584	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	ectoderm	ectoderm
UBERON:0002050	UBERON:0000924	efo_slim,uberon_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0000924	"Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue." [Wikipedia:Ectoderm]	225260	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	ectoderm
UBERON:0000925	\N	efo_slim,uberon_slim,vertebrate_core	"Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut." [Wikipedia:Endoderm]	UBERON:0000925	"Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut." [Wikipedia:Endoderm]	79585	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	endoderm	endoderm
UBERON:0002050	UBERON:0000925	efo_slim,uberon_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0000925	"Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut." [Wikipedia:Endoderm]	225261	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	endoderm
UBERON:0000926	\N	efo_slim,uberon_slim,vertebrate_core	"The middle germ layer of the embryo, between the endoderm and ectoderm." [Wikipedia:Mesoderm]	UBERON:0000926	"The middle germ layer of the embryo, between the endoderm and ectoderm." [Wikipedia:Mesoderm]	79586	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	mesoderm	mesoderm
EFO:0003331	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000926	"The middle germ layer of the embryo, between the endoderm and ectoderm." [Wikipedia:Mesoderm]	195922	\N	\N	uberon	0	EFO	zebrafish component	mesoderm
UBERON:0002050	UBERON:0000926	efo_slim,uberon_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0000926	"The middle germ layer of the embryo, between the endoderm and ectoderm." [Wikipedia:Mesoderm]	225262	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	mesoderm
UBERON:0000927	\N	efo_slim,uberon_slim	"A double row of cells which are located at the midline from the end of gastrulations. The morphology of these cells is distinct from adjacent ectodermal cells - they are elongated such that one end remains exposed to the outside of the embryo at the mideline while the other end bissects the internalised mesoderm." [FB:FBrf0089570]	UBERON:0000927	"A double row of cells which are located at the midline from the end of gastrulations. The morphology of these cells is distinct from adjacent ectodermal cells - they are elongated such that one end remains exposed to the outside of the embryo at the mideline while the other end bissects the internalised mesoderm." [FB:FBrf0089570]	79587	\N	efo_slim,uberon_slim	uberon	0	EFO	mesectoderm	mesectoderm
UBERON:0002050	UBERON:0000927	efo_slim,uberon_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0000927	"A double row of cells which are located at the midline from the end of gastrulations. The morphology of these cells is distinct from adjacent ectodermal cells - they are elongated such that one end remains exposed to the outside of the embryo at the mideline while the other end bissects the internalised mesoderm." [FB:FBrf0089570]	225263	efo_slim,uberon_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	mesectoderm
UBERON:0000934	\N	efo_slim,uberon_slim	"The pair of closely united ventral longitudinal nerves with their segmental ganglia that is characteristic of many elongate invertebrates (as earthworms)[BTO]. A large process bundle that runs along the vental mid-line extending from the ventral region of the nerve ring[WB]. The ventral cord is one of the distinguishing traits of the central nervous system of all arthropods (such as insects, crustaceans and arachnids) as well as many other invertebrates, such as the annelid worms[GO]." [BTO:0002328, GO:0007419, WB:Paper00000938, Wikipedia:Ventral_nerve_cord]	UBERON:0000934	"The pair of closely united ventral longitudinal nerves with their segmental ganglia that is characteristic of many elongate invertebrates (as earthworms)[BTO]. A large process bundle that runs along the vental mid-line extending from the ventral region of the nerve ring[WB]. The ventral cord is one of the distinguishing traits of the central nervous system of all arthropods (such as insects, crustaceans and arachnids) as well as many other invertebrates, such as the annelid worms[GO]." [BTO:0002328, GO:0007419, WB:Paper00000938, Wikipedia:Ventral_nerve_cord]	79589	\N	efo_slim,uberon_slim	uberon	0	EFO	ventral nerve cord	ventral nerve cord
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0000934	"The pair of closely united ventral longitudinal nerves with their segmental ganglia that is characteristic of many elongate invertebrates (as earthworms)[BTO]. A large process bundle that runs along the vental mid-line extending from the ventral region of the nerve ring[WB]. The ventral cord is one of the distinguishing traits of the central nervous system of all arthropods (such as insects, crustaceans and arachnids) as well as many other invertebrates, such as the annelid worms[GO]." [BTO:0002328, GO:0007419, WB:Paper00000938, Wikipedia:Ventral_nerve_cord]	195923	\N	\N	uberon	0	EFO	animal component	ventral nerve cord
UBERON:0000945	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium." [https://orcid.org/0000-0002-6601-2165, ISBN10:0073040584, Wikipedia:Stomach]	UBERON:0000945	"An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium." [https://orcid.org/0000-0002-6601-2165, ISBN10:0073040584, Wikipedia:Stomach]	79590	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	stomach	stomach
EFO:0000787	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000945	"An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium." [https://orcid.org/0000-0002-6601-2165, ISBN10:0073040584, Wikipedia:Stomach]	195924	\N	\N	uberon	0	EFO	animal component	stomach
UBERON:0000947	\N	efo_slim,grouping_class,uberon_slim	"Artery carrying blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation" [Wikipedia:Aorta]	UBERON:0000947	"Artery carrying blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation" [Wikipedia:Aorta]	79591	\N	efo_slim,grouping_class,uberon_slim	uberon	0	EFO	aorta	aorta
UBERON:0001981	UBERON:0000947	efo_slim,grouping_class,uberon_slim	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0000947	"Artery carrying blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation" [Wikipedia:Aorta]	225264	efo_slim,grouping_class,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	blood vessel	aorta
UBERON:0000948	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"a myogenic muscular organ found in the cardiovascular system. It is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions. The vertebrate heart is composed of cardiac muscle, which is an involuntary striated muscle tissue found only in this organ, and connective tissue. Primitive fish have a four-chambered heart; however, the chambers are arranged sequentially so that this primitive heart is quite unlike the four-chambered hearts of mammals and birds. The first chamber is the sinus venosus, which collects de-oxygenated blood, from the body, through the hepatic and cardinal veins. From here, blood flows into the atrium and then to the powerful muscular ventricle where the main pumping action takes place. The fourth and final chamber is the conus arteriosus which contains several valves and sends blood to the ventral aorta. The ventral aorta delivers blood to the gills where it is oxygenated and flows, through the dorsal aorta, into the rest of the body. (In tetrapods, the ventral aorta has divided in two; one half forms the ascending aorta, while the other forms the pulmonary artery. In the adult fish, the four chambers are not arranged in a straight row but, instead, form an S-shape with the latter two chambers lying above the former two. This relatively simpler pattern is found in cartilaginous fish and in the more primitive ray-finned fish. In teleosts, the conus arteriosus is very small and can more accurately be described as part of the aorta rather than of the heart proper. The conus arteriosus is not present in any amniotes which presumably having been absorbed into the ventricles over the course of evolution. Similarly, while the sinus venosus is present as a vestigial structure in some reptiles and birds, it is otherwise absorbed into the right atrium and is no longer distinguishable[WP]." [Wikipedia:Heart]	UBERON:0000948	"a myogenic muscular organ found in the cardiovascular system. It is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions. The vertebrate heart is composed of cardiac muscle, which is an involuntary striated muscle tissue found only in this organ, and connective tissue. Primitive fish have a four-chambered heart; however, the chambers are arranged sequentially so that this primitive heart is quite unlike the four-chambered hearts of mammals and birds. The first chamber is the sinus venosus, which collects de-oxygenated blood, from the body, through the hepatic and cardinal veins. From here, blood flows into the atrium and then to the powerful muscular ventricle where the main pumping action takes place. The fourth and final chamber is the conus arteriosus which contains several valves and sends blood to the ventral aorta. The ventral aorta delivers blood to the gills where it is oxygenated and flows, through the dorsal aorta, into the rest of the body. (In tetrapods, the ventral aorta has divided in two; one half forms the ascending aorta, while the other forms the pulmonary artery. In the adult fish, the four chambers are not arranged in a straight row but, instead, form an S-shape with the latter two chambers lying above the former two. This relatively simpler pattern is found in cartilaginous fish and in the more primitive ray-finned fish. In teleosts, the conus arteriosus is very small and can more accurately be described as part of the aorta rather than of the heart proper. The conus arteriosus is not present in any amniotes which presumably having been absorbed into the ventricles over the course of evolution. Similarly, while the sinus venosus is present as a vestigial structure in some reptiles and birds, it is otherwise absorbed into the right atrium and is no longer distinguishable[WP]." [Wikipedia:Heart]	79592	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	heart	heart
EFO:0000787	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000948	"a myogenic muscular organ found in the cardiovascular system. It is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions. The vertebrate heart is composed of cardiac muscle, which is an involuntary striated muscle tissue found only in this organ, and connective tissue. Primitive fish have a four-chambered heart; however, the chambers are arranged sequentially so that this primitive heart is quite unlike the four-chambered hearts of mammals and birds. The first chamber is the sinus venosus, which collects de-oxygenated blood, from the body, through the hepatic and cardinal veins. From here, blood flows into the atrium and then to the powerful muscular ventricle where the main pumping action takes place. The fourth and final chamber is the conus arteriosus which contains several valves and sends blood to the ventral aorta. The ventral aorta delivers blood to the gills where it is oxygenated and flows, through the dorsal aorta, into the rest of the body. (In tetrapods, the ventral aorta has divided in two; one half forms the ascending aorta, while the other forms the pulmonary artery. In the adult fish, the four chambers are not arranged in a straight row but, instead, form an S-shape with the latter two chambers lying above the former two. This relatively simpler pattern is found in cartilaginous fish and in the more primitive ray-finned fish. In teleosts, the conus arteriosus is very small and can more accurately be described as part of the aorta rather than of the heart proper. The conus arteriosus is not present in any amniotes which presumably having been absorbed into the ventricles over the course of evolution. Similarly, while the sinus venosus is present as a vestigial structure in some reptiles and birds, it is otherwise absorbed into the right atrium and is no longer distinguishable[WP]." [Wikipedia:Heart]	195925	\N	\N	uberon	0	EFO	animal component	heart
UBERON:0000949	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity." [NLM:endocrine+system, Wikipedia:Endocrine_system]	UBERON:0000949	"Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity." [NLM:endocrine+system, Wikipedia:Endocrine_system]	79593	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	endocrine system	endocrine system
UBERON:0000467	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0000949	"Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity." [NLM:endocrine+system, Wikipedia:Endocrine_system]	195926	\N	\N	uberon	0	EFO	anatomical system	endocrine system
UBERON:0000955	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	UBERON:0000955	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	79594	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	uberon	0	EFO	brain	brain
EFO:0000787	\N	efo_slim,major_organ,uberon_slim,vertebrate_core	"" []	UBERON:0000955	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	195927	\N	\N	uberon	0	EFO	animal component	brain
UBERON:0000956	\N	efo_slim,uberon_slim	"The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 24 mm (0.080.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted]." [Wikipedia:Cerebral_cortex]	UBERON:0000956	"The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 24 mm (0.080.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted]." [Wikipedia:Cerebral_cortex]	79595	\N	efo_slim,uberon_slim	uberon	0	EFO	cerebral cortex	cerebral cortex
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0000956	"The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 24 mm (0.080.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted]." [Wikipedia:Cerebral_cortex]	195928	\N	\N	uberon	0	EFO	animal component	cerebral cortex
UBERON:0000964	\N	efo_slim,uberon_slim,vertebrate_core	"transparent front part of the eye that covers the iris, pupil, and anterior chamber. Together with the lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power." [Wikipedia:Cornea]	UBERON:0000964	"transparent front part of the eye that covers the iris, pupil, and anterior chamber. Together with the lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power." [Wikipedia:Cornea]	79596	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	cornea	cornea
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000964	"transparent front part of the eye that covers the iris, pupil, and anterior chamber. Together with the lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power." [Wikipedia:Cornea]	195929	\N	\N	uberon	0	EFO	animal component	cornea
UBERON:0000965	\N	uberon_slim,vertebrate_core	"Transparent part of camera-type eye that helps to refract light to be focused on the retina." []	UBERON:0000965	"Transparent part of camera-type eye that helps to refract light to be focused on the retina." []	79597	\N	uberon_slim,vertebrate_core	uberon	0	EFO	lens of camera-type eye	lens of camera-type eye
UBERON:0000970	UBERON:0000965	uberon_slim,vertebrate_core	"An organ that detects light." [https://orcid.org/0000-0002-6601-2165]	UBERON:0000965	"Transparent part of camera-type eye that helps to refract light to be focused on the retina." []	225265	uberon_slim,vertebrate_core	efo_slim,functional_classification,major_organ,organ_slim,uberon_slim	uberon	1	EFO	eye	lens of camera-type eye
UBERON:0000966	\N	efo_slim,uberon_slim,vertebrate_core	"The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." [Wikipedia:Retina, ZFIN:curator]	UBERON:0000966	"The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." [Wikipedia:Retina, ZFIN:curator]	79598	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	retina	retina
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000966	"The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." [Wikipedia:Retina, ZFIN:curator]	195930	\N	\N	uberon	0	EFO	animal component	retina
UBERON:0000970	\N	efo_slim,functional_classification,major_organ,organ_slim,uberon_slim	"An organ that detects light." [https://orcid.org/0000-0002-6601-2165]	UBERON:0000970	"An organ that detects light." [https://orcid.org/0000-0002-6601-2165]	79599	\N	efo_slim,functional_classification,major_organ,organ_slim,uberon_slim	uberon	0	EFO	eye	eye
EFO:0000787	\N	efo_slim,functional_classification,major_organ,organ_slim,uberon_slim	"" []	UBERON:0000970	"An organ that detects light." [https://orcid.org/0000-0002-6601-2165]	195931	\N	\N	uberon	0	EFO	animal component	eye
UBERON:0000972	\N	efo_slim,uberon_slim	"The paired, usually multiple jointed, sensory organs articulating on the procephalic region of the head capsule; its highly versatile sensory structures are capable to detect the various environmental stimuli. In the context of Drosophila refers to they are the most anterior segmented sensory appendage of the head." [FB:gg, ISBN:3110148986, Wikipedia:Antenna_(biology)]	UBERON:0000972	"The paired, usually multiple jointed, sensory organs articulating on the procephalic region of the head capsule; its highly versatile sensory structures are capable to detect the various environmental stimuli. In the context of Drosophila refers to they are the most anterior segmented sensory appendage of the head." [FB:gg, ISBN:3110148986, Wikipedia:Antenna_(biology)]	79600	\N	efo_slim,uberon_slim	uberon	0	EFO	antenna	antenna
UBERON:0000026	UBERON:0000972	efo_slim,uberon_slim	"Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS]	UBERON:0000972	"The paired, usually multiple jointed, sensory organs articulating on the procephalic region of the head capsule; its highly versatile sensory structures are capable to detect the various environmental stimuli. In the context of Drosophila refers to they are the most anterior segmented sensory appendage of the head." [FB:gg, ISBN:3110148986, Wikipedia:Antenna_(biology)]	225266	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	appendage	antenna
UBERON:0000974	\N	efo_slim,uberon_slim	"Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the cervical vertebral coumn, it is partially surrounded by skin of neck. Examples: There is only one neck[FMA]." [Wikipedia:Neck]	UBERON:0000974	"Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the cervical vertebral coumn, it is partially surrounded by skin of neck. Examples: There is only one neck[FMA]." [Wikipedia:Neck]	79601	\N	efo_slim,uberon_slim	uberon	0	EFO	neck	neck
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0000974	"Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the cervical vertebral coumn, it is partially surrounded by skin of neck. Examples: There is only one neck[FMA]." [Wikipedia:Neck]	195932	\N	\N	uberon	0	EFO	animal component	neck
UBERON:0000976	\N	efo_slim,uberon_slim	"Paired endochondral long bone that extends between the pectoral girdle and the skeletal parts of the forelimb. [PHENOSCAPE:mah]" [AAO:0000679, PHENOSCAPE:mah]	UBERON:0000976	"Paired endochondral long bone that extends between the pectoral girdle and the skeletal parts of the forelimb. [PHENOSCAPE:mah]" [AAO:0000679, PHENOSCAPE:mah]	79602	\N	efo_slim,uberon_slim	uberon	0	EFO	humerus	humerus
UBERON:0003464	\N	efo_slim,uberon_slim	"The bones of the upper and lower LEG. They include the PELVIC BONES." []	UBERON:0000976	"Paired endochondral long bone that extends between the pectoral girdle and the skeletal parts of the forelimb. [PHENOSCAPE:mah]" [AAO:0000679, PHENOSCAPE:mah]	195933	\N	\N	uberon	0	EFO	bone of lower extremity	humerus
UBERON:0000977	\N	efo_slim,uberon_slim	"The delicate serous membrane that lines each half of the thorax of mammals and is folded back over the surface of the lung of the same side[BTO]." [Wikipedia:Pleura]	UBERON:0000977	"The delicate serous membrane that lines each half of the thorax of mammals and is folded back over the surface of the lung of the same side[BTO]." [Wikipedia:Pleura]	79603	\N	efo_slim,uberon_slim	uberon	0	EFO	pleura	pleura
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0000977	"The delicate serous membrane that lines each half of the thorax of mammals and is folded back over the surface of the lung of the same side[BTO]." [Wikipedia:Pleura]	195934	\N	\N	uberon	0	EFO	animal component	pleura
UBERON:0000979	\N	efo_slim,uberon_slim	"The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]." [PHENOSCAPE:mah]	UBERON:0000979	"The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]." [PHENOSCAPE:mah]	79605	\N	efo_slim,uberon_slim	uberon	0	EFO	tibia	tibia
UBERON:0003464	\N	efo_slim,uberon_slim	"The bones of the upper and lower LEG. They include the PELVIC BONES." []	UBERON:0000979	"The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]." [PHENOSCAPE:mah]	195936	\N	\N	uberon	0	EFO	bone of lower extremity	tibia
UBERON:0000981	\N	efo_slim,uberon_slim	"Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]." [VSAO:0000186, Wikipedia:Femur]	UBERON:0000981	"Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]." [VSAO:0000186, Wikipedia:Femur]	79606	\N	efo_slim,uberon_slim	uberon	0	EFO	femur	femur
UBERON:0003464	\N	efo_slim,uberon_slim	"The bones of the upper and lower LEG. They include the PELVIC BONES." []	UBERON:0000981	"Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]." [VSAO:0000186, Wikipedia:Femur]	195937	\N	\N	uberon	0	EFO	bone of lower extremity	femur
UBERON:0000987	\N	efo_slim,uberon_slim	"The capitate stalk on both sides of the thorax having developed from the dorsal metathoracic wing-buds, it is freely movable and capable of vibration, representing the hind wing of Diptera; used for flight balance." [FB:gg, ISBN:3110148986, Wikipedia:Haltere]	UBERON:0000987	"The capitate stalk on both sides of the thorax having developed from the dorsal metathoracic wing-buds, it is freely movable and capable of vibration, representing the hind wing of Diptera; used for flight balance." [FB:gg, ISBN:3110148986, Wikipedia:Haltere]	79608	\N	efo_slim,uberon_slim	uberon	0	EFO	haltere	haltere
UBERON:0000026	UBERON:0000987	efo_slim,uberon_slim	"Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS]	UBERON:0000987	"The capitate stalk on both sides of the thorax having developed from the dorsal metathoracic wing-buds, it is freely movable and capable of vibration, representing the hind wing of Diptera; used for flight balance." [FB:gg, ISBN:3110148986, Wikipedia:Haltere]	225267	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	appendage	haltere
UBERON:0000988	\N	efo_slim,uberon_slim	"Brainstrem structure that has as its parts the pontine tegmentum and basal part of pons[FMA]." [FMA:67943, Wikipedia:Pons]	UBERON:0000988	"Brainstrem structure that has as its parts the pontine tegmentum and basal part of pons[FMA]." [FMA:67943, Wikipedia:Pons]	79609	\N	efo_slim,uberon_slim	uberon	0	EFO	pons	pons
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0000988	"Brainstrem structure that has as its parts the pontine tegmentum and basal part of pons[FMA]." [FMA:67943, Wikipedia:Pons]	195938	\N	\N	uberon	0	EFO	animal component	pons
UBERON:0000989	\N	efo_slim,organ_slim,uberon_slim	"The penis (plural penises, penes) is an external sexual organ of certain biologically male organisms, in both vertebrates and invertebrates. The penis is a reproductive organ, technically an intromittent organ, and for placental mammals, additionally serves as the external organ of urination. The penis is generally found on mammals and reptiles. [WP,unvetted]." [Wikipedia:Penis]	UBERON:0000989	"The penis (plural penises, penes) is an external sexual organ of certain biologically male organisms, in both vertebrates and invertebrates. The penis is a reproductive organ, technically an intromittent organ, and for placental mammals, additionally serves as the external organ of urination. The penis is generally found on mammals and reptiles. [WP,unvetted]." [Wikipedia:Penis]	79610	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	penis	penis
EFO:0000787	\N	efo_slim,organ_slim,uberon_slim	"" []	UBERON:0000989	"The penis (plural penises, penes) is an external sexual organ of certain biologically male organisms, in both vertebrates and invertebrates. The penis is a reproductive organ, technically an intromittent organ, and for placental mammals, additionally serves as the external organ of urination. The penis is generally found on mammals and reptiles. [WP,unvetted]." [Wikipedia:Penis]	195939	\N	\N	uberon	0	EFO	animal component	penis
UBERON:0000990	\N	efo_slim,functional_classification,uberon_slim,vertebrate_core	"Anatomical system that has as its parts the organs concerned with reproduction." [Wikipedia:Reproductive_system]	UBERON:0000990	"Anatomical system that has as its parts the organs concerned with reproduction." [Wikipedia:Reproductive_system]	79611	\N	efo_slim,functional_classification,uberon_slim,vertebrate_core	uberon	0	EFO	reproductive system	reproductive system
UBERON:0004122	UBERON:0000990	efo_slim,functional_classification,uberon_slim,vertebrate_core	"Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction." [VHOG:0000286]	UBERON:0000990	"Anatomical system that has as its parts the organs concerned with reproduction." [Wikipedia:Reproductive_system]	225268	efo_slim,functional_classification,uberon_slim,vertebrate_core	efo_slim	uberon	1	EFO	genitourinary system	reproductive system
UBERON:0000993	\N	efo_slim,uberon_slim,vertebrate_core	"passage from the ovaries to the outside of the body[Wikipedia:Oviduct]." [Wikipedia:Oviduct]	UBERON:0000993	"passage from the ovaries to the outside of the body[Wikipedia:Oviduct]." [Wikipedia:Oviduct]	79614	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	oviduct	oviduct
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0000993	"passage from the ovaries to the outside of the body[Wikipedia:Oviduct]." [Wikipedia:Oviduct]	195942	\N	\N	uberon	0	EFO	animal component	oviduct
UBERON:0000994	\N	efo_slim,uberon_slim	"an organ of the female reproductive tract in insects, some molluscs, oligochaeta worms and certain other invertebrates and vertebrates.[1] Its purpose is to receive and store sperm from the male, and can sometimes be the site of fertilization when the oocytes are ready.[2] Some species have multiple spermathecae, as seen in earthworms, where four pairs of spermathecae are present. One pair in 6,7,8 and 9 segments. They receive and store the spermatozoa of another earthworm during copulation.[3] They are lined with epithelium and are variable in shape; some are thin, heavily coiled tubes, others are vague outpocketings from the main reproductive tract. It is one of the many variations in sexual reproduction[WP]. an accordion-like tube that contains sperm and is the site of oocyte fertilization." [Wikipedia:Spermatheca]	UBERON:0000994	"an organ of the female reproductive tract in insects, some molluscs, oligochaeta worms and certain other invertebrates and vertebrates.[1] Its purpose is to receive and store sperm from the male, and can sometimes be the site of fertilization when the oocytes are ready.[2] Some species have multiple spermathecae, as seen in earthworms, where four pairs of spermathecae are present. One pair in 6,7,8 and 9 segments. They receive and store the spermatozoa of another earthworm during copulation.[3] They are lined with epithelium and are variable in shape; some are thin, heavily coiled tubes, others are vague outpocketings from the main reproductive tract. It is one of the many variations in sexual reproduction[WP]. an accordion-like tube that contains sperm and is the site of oocyte fertilization." [Wikipedia:Spermatheca]	79615	\N	efo_slim,uberon_slim	uberon	0	EFO	spermathecum	spermathecum
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0000994	"an organ of the female reproductive tract in insects, some molluscs, oligochaeta worms and certain other invertebrates and vertebrates.[1] Its purpose is to receive and store sperm from the male, and can sometimes be the site of fertilization when the oocytes are ready.[2] Some species have multiple spermathecae, as seen in earthworms, where four pairs of spermathecae are present. One pair in 6,7,8 and 9 segments. They receive and store the spermatozoa of another earthworm during copulation.[3] They are lined with epithelium and are variable in shape; some are thin, heavily coiled tubes, others are vague outpocketings from the main reproductive tract. It is one of the many variations in sexual reproduction[WP]. an accordion-like tube that contains sperm and is the site of oocyte fertilization." [Wikipedia:Spermatheca]	195943	\N	\N	uberon	0	EFO	animal component	spermathecum
UBERON:0000995	\N	efo_slim,organ_slim,uberon_slim	"a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species. It is within the uterus that the fetus develops during gestation, usually developing completely in placental mammals such as humans and partially in marsupials such as kangaroos and opossums. Two uteruses usually form initially in a female fetus, and in placental mammals they may partially or completely fuse into a single uterus depending on the species. In many species with two uteruses, only one is functional. Humans and other higher primates such as chimpanzees, along with horses, usually have a single completely fused uterus, although in some individuals the uteruses may not have completely fused[WP]." [Wikipedia:Uterus]	UBERON:0000995	"a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species. It is within the uterus that the fetus develops during gestation, usually developing completely in placental mammals such as humans and partially in marsupials such as kangaroos and opossums. Two uteruses usually form initially in a female fetus, and in placental mammals they may partially or completely fuse into a single uterus depending on the species. In many species with two uteruses, only one is functional. Humans and other higher primates such as chimpanzees, along with horses, usually have a single completely fused uterus, although in some individuals the uteruses may not have completely fused[WP]." [Wikipedia:Uterus]	79616	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	uterus	uterus
EFO:0000787	\N	efo_slim,organ_slim,uberon_slim	"" []	UBERON:0000995	"a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species. It is within the uterus that the fetus develops during gestation, usually developing completely in placental mammals such as humans and partially in marsupials such as kangaroos and opossums. Two uteruses usually form initially in a female fetus, and in placental mammals they may partially or completely fuse into a single uterus depending on the species. In many species with two uteruses, only one is functional. Humans and other higher primates such as chimpanzees, along with horses, usually have a single completely fused uterus, although in some individuals the uteruses may not have completely fused[WP]." [Wikipedia:Uterus]	195944	\N	\N	uberon	0	EFO	animal component	uterus
UBERON:0000996	\N	efo_slim,uberon_slim	"a fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]." [FMA:19949, Wikipedia:Vagina]	UBERON:0000996	"a fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]." [FMA:19949, Wikipedia:Vagina]	79617	\N	efo_slim,uberon_slim	uberon	0	EFO	vagina	vagina
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0000996	"a fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]." [FMA:19949, Wikipedia:Vagina]	195945	\N	\N	uberon	0	EFO	animal component	vagina
UBERON:0000998	\N	efo_slim,organ_slim,uberon_slim	"Either of a pair of glandular pouches that lie one on either side of the male reproductive tract and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct." [BTO:0001234, Wikipedia:Seminal_vesicle]	UBERON:0000998	"Either of a pair of glandular pouches that lie one on either side of the male reproductive tract and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct." [BTO:0001234, Wikipedia:Seminal_vesicle]	79619	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	seminal vesicle	seminal vesicle
UBERON:0002530	UBERON:0000998	efo_slim,organ_slim,uberon_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0000998	"Either of a pair of glandular pouches that lie one on either side of the male reproductive tract and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct." [BTO:0001234, Wikipedia:Seminal_vesicle]	225269	efo_slim,organ_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	gland	seminal vesicle
UBERON:0000999	\N	efo_slim,uberon_slim	"The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted]." [Wikipedia:Ejaculatory_duct]	UBERON:0000999	"The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted]." [Wikipedia:Ejaculatory_duct]	79620	\N	efo_slim,uberon_slim	uberon	0	EFO	ejaculatory duct	ejaculatory duct
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0000999	"The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted]." [Wikipedia:Ejaculatory_duct]	195946	\N	\N	uberon	0	EFO	animal component	ejaculatory duct
UBERON:0001000	\N	efo_slim,uberon_slim,vertebrate_core	"duct that transports sperm from the testis. In mammals this is from the epididymis." [Wikipedia:Vas_deferens]	UBERON:0001000	"duct that transports sperm from the testis. In mammals this is from the epididymis." [Wikipedia:Vas_deferens]	79621	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	vas deferens	vas deferens
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001000	"duct that transports sperm from the testis. In mammals this is from the epididymis." [Wikipedia:Vas_deferens]	195947	\N	\N	uberon	0	EFO	animal component	vas deferens
UBERON:0001001	\N	efo_slim,uberon_slim	"The outer non-living layer of the integumentary system derived from the epidermis." []	UBERON:0001001	"The outer non-living layer of the integumentary system derived from the epidermis." []	79622	\N	efo_slim,uberon_slim	uberon	0	EFO	chitin-based cuticle	chitin-based cuticle
EFO:0003858	\N	efo_slim,uberon_slim	"" []	UBERON:0001001	"The outer non-living layer of the integumentary system derived from the epidermis." []	195948	\N	\N	uberon	0	EFO	skeleton structure	chitin-based cuticle
UBERON:0001003	\N	efo_slim,uberon_slim,vertebrate_core	"The outer layer of the skin[WP]. cellular, multilayered epithelium derived from the ectoderm[ZFA]." [ISBN10:0073040584, Wikipedia:Epidermis_(skin)]	UBERON:0001003	"The outer layer of the skin[WP]. cellular, multilayered epithelium derived from the ectoderm[ZFA]." [ISBN10:0073040584, Wikipedia:Epidermis_(skin)]	79623	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	epidermis	epidermis
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001003	"The outer layer of the skin[WP]. cellular, multilayered epithelium derived from the ectoderm[ZFA]." [ISBN10:0073040584, Wikipedia:Epidermis_(skin)]	195949	\N	\N	uberon	0	EFO	animal component	epidermis
UBERON:0001004	\N	efo_slim,functional_classification,uberon_slim,vertebrate_core	"Functional system which consists of structures involved in respiration." [Wikipedia:Respiratory_system]	UBERON:0001004	"Functional system which consists of structures involved in respiration." [Wikipedia:Respiratory_system]	79624	\N	efo_slim,functional_classification,uberon_slim,vertebrate_core	uberon	0	EFO	respiratory system	respiratory system
UBERON:0000467	\N	efo_slim,functional_classification,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0001004	"Functional system which consists of structures involved in respiration." [Wikipedia:Respiratory_system]	195950	\N	\N	uberon	0	EFO	anatomical system	respiratory system
UBERON:0001007	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes." [FB:gg, NLM:alimentary+system, Wikipedia:Digestive_system]	UBERON:0001007	"Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes." [FB:gg, NLM:alimentary+system, Wikipedia:Digestive_system]	79625	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	digestive system	digestive system
UBERON:0000467	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0001007	"Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes." [FB:gg, NLM:alimentary+system, Wikipedia:Digestive_system]	195951	\N	\N	uberon	0	EFO	anatomical system	digestive system
UBERON:0001013	\N	efo_slim,uberon_slim,vertebrate_core	"Connective tissue composed of adipocytes." [Wikipedia:Adipose_tissue]	UBERON:0001013	"Connective tissue composed of adipocytes." [Wikipedia:Adipose_tissue]	79628	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	adipose tissue	adipose tissue
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001013	"Connective tissue composed of adipocytes." [Wikipedia:Adipose_tissue]	195953	\N	\N	uberon	0	EFO	animal component	adipose tissue
UBERON:0001015	\N	efo_slim,uberon_slim,vertebrate_core	"A body tissue consisting of long cells that contract when stimulated and produce motion." []	UBERON:0001015	"A body tissue consisting of long cells that contract when stimulated and produce motion." []	79629	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	musculature	musculature
UBERON:0000383	UBERON:0001015	efo_slim,uberon_slim,vertebrate_core	"Anatomical system that consists of all the muscles of the body[VSAO, modified]." [VSAO:0000033]	UBERON:0001015	"A body tissue consisting of long cells that contract when stimulated and produce motion." []	225270	efo_slim,uberon_slim,vertebrate_core	efo_slim	uberon	1	EFO	musculature of body	musculature
UBERON:0001016	\N	efo_slim,uberon_slim,vertebrate_core	"a network of specialized cells that communicate information about an organism's surroundings and itself[Wikipedia]." [ISBN:0-14-051288-8, ISBN:3110148986, NLM:nervous+system, WB:rynl, Wikipedia:Nervous_system, ZFIN:curator]	UBERON:0001016	"a network of specialized cells that communicate information about an organism's surroundings and itself[Wikipedia]." [ISBN:0-14-051288-8, ISBN:3110148986, NLM:nervous+system, WB:rynl, Wikipedia:Nervous_system, ZFIN:curator]	79630	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	nervous system	nervous system
UBERON:0000467	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0001016	"a network of specialized cells that communicate information about an organism's surroundings and itself[Wikipedia]." [ISBN:0-14-051288-8, ISBN:3110148986, NLM:nervous+system, WB:rynl, Wikipedia:Nervous_system, ZFIN:curator]	195954	\N	\N	uberon	0	EFO	anatomical system	nervous system
UBERON:0001017	\N	efo_slim,uberon_slim,vertebrate_core	"The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord[GO]. The part of the nervous system which in vertebrates consists of the brain and spinal cord, to which sensory impulses are transmitted and from which motor impulses pass out, and which supervises and coordinates the activity of the entire nervous system[XAO]. Neuraxis plus retina[INCF]." [FB:gg, ISBN:3110148986, NLM:central+nervous+system, Wikipedia:Central_nervous_system, ZFIN:curator]	UBERON:0001017	"The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord[GO]. The part of the nervous system which in vertebrates consists of the brain and spinal cord, to which sensory impulses are transmitted and from which motor impulses pass out, and which supervises and coordinates the activity of the entire nervous system[XAO]. Neuraxis plus retina[INCF]." [FB:gg, ISBN:3110148986, NLM:central+nervous+system, Wikipedia:Central_nervous_system, ZFIN:curator]	79631	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	central nervous system	central nervous system
UBERON:0000467	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0001017	"The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord[GO]. The part of the nervous system which in vertebrates consists of the brain and spinal cord, to which sensory impulses are transmitted and from which motor impulses pass out, and which supervises and coordinates the activity of the entire nervous system[XAO]. Neuraxis plus retina[INCF]." [FB:gg, ISBN:3110148986, NLM:central+nervous+system, Wikipedia:Central_nervous_system, ZFIN:curator]	195955	\N	\N	uberon	0	EFO	anatomical system	central nervous system
UBERON:0001032	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	UBERON:0001032	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	79633	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	sensory system	sensory system
UBERON:0000467	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0001032	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	195957	\N	\N	uberon	0	EFO	anatomical system	sensory system
UBERON:0001033	\N	efo_slim,uberon_slim,vertebrate_core	"Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception of taste (GO:0050912)'." []	UBERON:0001033	"Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception of taste (GO:0050912)'." []	79634	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	gustatory system	gustatory system
EFO:0000792	\N	efo_slim,uberon_slim,vertebrate_core	"The larval cranium exclusive of the dorsal apotome." []	UBERON:0001033	"Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception of taste (GO:0050912)'." []	195958	\N	\N	uberon	0	EFO	craniofacial tissue	gustatory system
UBERON:0001032	UBERON:0001033	efo_slim,uberon_slim,vertebrate_core	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	UBERON:0001033	"Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception of taste (GO:0050912)'." []	225271	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	sensory system	gustatory system
UBERON:0001038	\N	efo_slim,organ_slim,uberon_slim	"Chordotonal organs are arthropod sensory structures consisting of special sensilla called the scolopidia, which are mechano-transducers and respond mainly to stretch or flexion. In insects, they consist of bundles of internal sensilla, each of which has a cap cell, an enveloping cell and one or more sense cells. The distal end of the organ is usually attached to the cuticle of the body wall, marked by a pit, a thickened disc or a nodule of chitin, and the base of the organ is connected with the hypodermis, often by a special ligament." [FB:FBrf0056378, Wikipedia:Chordotonal_organ]	UBERON:0001038	"Chordotonal organs are arthropod sensory structures consisting of special sensilla called the scolopidia, which are mechano-transducers and respond mainly to stretch or flexion. In insects, they consist of bundles of internal sensilla, each of which has a cap cell, an enveloping cell and one or more sense cells. The distal end of the organ is usually attached to the cuticle of the body wall, marked by a pit, a thickened disc or a nodule of chitin, and the base of the organ is connected with the hypodermis, often by a special ligament." [FB:FBrf0056378, Wikipedia:Chordotonal_organ]	79636	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	chordotonal organ	chordotonal organ
EFO:0000787	\N	efo_slim,organ_slim,uberon_slim	"" []	UBERON:0001038	"Chordotonal organs are arthropod sensory structures consisting of special sensilla called the scolopidia, which are mechano-transducers and respond mainly to stretch or flexion. In insects, they consist of bundles of internal sensilla, each of which has a cap cell, an enveloping cell and one or more sense cells. The distal end of the organ is usually attached to the cuticle of the body wall, marked by a pit, a thickened disc or a nodule of chitin, and the base of the organ is connected with the hypodermis, often by a special ligament." [FB:FBrf0056378, Wikipedia:Chordotonal_organ]	195959	\N	\N	uberon	0	EFO	animal component	chordotonal organ
UBERON:0001040	\N	efo_slim,uberon_slim	"Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes." [Wikipedia:Yolk_sac]	UBERON:0001040	"Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes." [Wikipedia:Yolk_sac]	79637	\N	efo_slim,uberon_slim	uberon	0	EFO	yolk sac	yolk sac
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001040	"Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes." [Wikipedia:Yolk_sac]	195960	\N	\N	uberon	0	EFO	animal component	yolk sac
UBERON:0001042	\N	efo_slim,uberon_slim,vertebrate_core	"The part of the vertebrate alimentary canal between the cavity of the mouth and the esophagus.nThe pharynx of Nematodes is an efficient pump and forces food into the intestines." []	UBERON:0001042	"The part of the vertebrate alimentary canal between the cavity of the mouth and the esophagus.nThe pharynx of Nematodes is an efficient pump and forces food into the intestines." []	79638	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	chordate pharynx	chordate pharynx
UBERON:0001004	UBERON:0001042	efo_slim,uberon_slim,vertebrate_core	"Functional system which consists of structures involved in respiration." [Wikipedia:Respiratory_system]	UBERON:0001042	"The part of the vertebrate alimentary canal between the cavity of the mouth and the esophagus.nThe pharynx of Nematodes is an efficient pump and forces food into the intestines." []	225272	efo_slim,uberon_slim,vertebrate_core	efo_slim,functional_classification,uberon_slim,vertebrate_core	uberon	1	EFO	respiratory system	chordate pharynx
UBERON:0001007	UBERON:0001042	efo_slim,uberon_slim,vertebrate_core	"Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes." [FB:gg, NLM:alimentary+system, Wikipedia:Digestive_system]	UBERON:0001042	"The part of the vertebrate alimentary canal between the cavity of the mouth and the esophagus.nThe pharynx of Nematodes is an efficient pump and forces food into the intestines." []	225273	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	digestive system	chordate pharynx
UBERON:0001043	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993)." [http://www.rivm.nl/interspeciesinfo/inter/oesophagus/, Wikipedia:Esophagus]	UBERON:0001043	"Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993)." [http://www.rivm.nl/interspeciesinfo/inter/oesophagus/, Wikipedia:Esophagus]	79639	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	esophagus	esophagus
EFO:0000787	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001043	"Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993)." [http://www.rivm.nl/interspeciesinfo/inter/oesophagus/, Wikipedia:Esophagus]	195961	\N	\N	uberon	0	EFO	animal component	esophagus
UBERON:0001044	\N	efo_slim,functional_classification,organ_slim,uberon_slim	"saliva-secreting exocrine glands of the oral cavity[GO]. The salivary glands in mammals are exocrine glands, glands with ducts, that produce saliva. They also secrete amylase, an enzyme that breaks down starch into maltose. In other organisms such as insects, salivary glands are often used to produce biologically important proteins like silk or glues, and fly salivary glands contain polytene chromosomes that have been useful in genetic research[WP]." [GO:0007431, Wikipedia:Salivary_gland]	UBERON:0001044	"saliva-secreting exocrine glands of the oral cavity[GO]. The salivary glands in mammals are exocrine glands, glands with ducts, that produce saliva. They also secrete amylase, an enzyme that breaks down starch into maltose. In other organisms such as insects, salivary glands are often used to produce biologically important proteins like silk or glues, and fly salivary glands contain polytene chromosomes that have been useful in genetic research[WP]." [GO:0007431, Wikipedia:Salivary_gland]	79640	\N	efo_slim,functional_classification,organ_slim,uberon_slim	uberon	0	EFO	saliva-secreting gland	saliva-secreting gland
UBERON:0002530	UBERON:0001044	efo_slim,functional_classification,organ_slim,uberon_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0001044	"saliva-secreting exocrine glands of the oral cavity[GO]. The salivary glands in mammals are exocrine glands, glands with ducts, that produce saliva. They also secrete amylase, an enzyme that breaks down starch into maltose. In other organisms such as insects, salivary glands are often used to produce biologically important proteins like silk or glues, and fly salivary glands contain polytene chromosomes that have been useful in genetic research[WP]." [GO:0007431, Wikipedia:Salivary_gland]	225274	efo_slim,functional_classification,organ_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	gland	saliva-secreting gland
UBERON:0001045	\N	developmental_classification,efo_slim,uberon_slim	"Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. In humans: originates from the foregut at the opening of the bile duct into the duodenum and continues through the small intestine and much of the large intestine until the transition to the hindgut about two-thirds of the way through the transverse colon. That part of the alimentary canal which lies between the gizzard and the hind intestine." [GO:0007494, Wikipedia:Midgut]	UBERON:0001045	"Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. In humans: originates from the foregut at the opening of the bile duct into the duodenum and continues through the small intestine and much of the large intestine until the transition to the hindgut about two-thirds of the way through the transverse colon. That part of the alimentary canal which lies between the gizzard and the hind intestine." [GO:0007494, Wikipedia:Midgut]	79641	\N	developmental_classification,efo_slim,uberon_slim	uberon	0	EFO	midgut	midgut
EFO:0000787	\N	developmental_classification,efo_slim,uberon_slim	"" []	UBERON:0001045	"Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. In humans: originates from the foregut at the opening of the bile duct into the duodenum and continues through the small intestine and much of the large intestine until the transition to the hindgut about two-thirds of the way through the transverse colon. That part of the alimentary canal which lies between the gizzard and the hind intestine." [GO:0007494, Wikipedia:Midgut]	195962	\N	\N	uberon	0	EFO	animal component	midgut
UBERON:0001048	\N	efo_slim,uberon_slim	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	UBERON:0001048	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	79642	\N	efo_slim,uberon_slim	uberon	0	EFO	primordium	primordium
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001048	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	195963	\N	\N	uberon	0	EFO	animal component	primordium
EFO:0001647	\N	efo_slim,uberon_slim	"A tissue modifier is an anatomical modifier which describes some quality about a tissue." []	UBERON:0001048	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	195964	\N	\N	uberon	0	EFO	tissue modifier	primordium
UBERON:0001051	\N	efo_slim,uberon_slim	"Bottom part of the pharynx, and is the part of the throat that connects to the esophagus." [Wikipedia:Hypopharynx]	UBERON:0001051	"Bottom part of the pharynx, and is the part of the throat that connects to the esophagus." [Wikipedia:Hypopharynx]	79643	\N	efo_slim,uberon_slim	uberon	0	EFO	hypopharynx	hypopharynx
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001051	"Bottom part of the pharynx, and is the part of the throat that connects to the esophagus." [Wikipedia:Hypopharynx]	195965	\N	\N	uberon	0	EFO	animal component	hypopharynx
UBERON:0001052	\N	efo_slim,uberon_slim	"The terminal portion of the intestine." [Wikipedia:Rectum]	UBERON:0001052	"The terminal portion of the intestine." [Wikipedia:Rectum]	79644	\N	efo_slim,uberon_slim	uberon	0	EFO	rectum	rectum
UBERON:0001007	UBERON:0001052	efo_slim,uberon_slim	"Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes." [FB:gg, NLM:alimentary+system, Wikipedia:Digestive_system]	UBERON:0001052	"The terminal portion of the intestine." [Wikipedia:Rectum]	225275	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	digestive system	rectum
UBERON:0001053	\N	efo_slim,organ_slim	"A system of neurons that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system." [BTO:0002106]	UBERON:0001053	"A system of neurons that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system." [BTO:0002106]	79645	\N	efo_slim,organ_slim	uberon	0	EFO	neurohemal organ	neurohemal organ
EFO:0000787	\N	efo_slim,organ_slim	"" []	UBERON:0001053	"A system of neurons that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system." [BTO:0002106]	195966	\N	\N	uberon	0	EFO	animal component	neurohemal organ
UBERON:0001054	\N	efo_slim,uberon_slim	"The most important structure of the insect's excretory organ, which may comprise cystiform or labyrinthine highly versatile tubules having their outlet into the inital section of the rectum[FBbt]. Any of a group of long blind vessels opening into the posterior part of the alimentary canal in most insects and some other arthropods and functioning primarily as excretory organs[BTO]." [ISBN:3110148986, Wikipedia:Malpighian_tubule]	UBERON:0001054	"The most important structure of the insect's excretory organ, which may comprise cystiform or labyrinthine highly versatile tubules having their outlet into the inital section of the rectum[FBbt]. Any of a group of long blind vessels opening into the posterior part of the alimentary canal in most insects and some other arthropods and functioning primarily as excretory organs[BTO]." [ISBN:3110148986, Wikipedia:Malpighian_tubule]	79646	\N	efo_slim,uberon_slim	uberon	0	EFO	Malpighian tubule	Malpighian tubule
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001054	"The most important structure of the insect's excretory organ, which may comprise cystiform or labyrinthine highly versatile tubules having their outlet into the inital section of the rectum[FBbt]. Any of a group of long blind vessels opening into the posterior part of the alimentary canal in most insects and some other arthropods and functioning primarily as excretory organs[BTO]." [ISBN:3110148986, Wikipedia:Malpighian_tubule]	195967	\N	\N	uberon	0	EFO	animal component	Malpighian tubule
UBERON:0001056	\N	efo_slim	"One of a pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain." [BTO:0000432, http://en.wikipedia.org/wiki/Corpus_cardiacum#Endocrine_system]	UBERON:0001056	"One of a pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain." [BTO:0000432, http://en.wikipedia.org/wiki/Corpus_cardiacum#Endocrine_system]	79647	\N	efo_slim	uberon	0	EFO	corpus cardiacum	corpus cardiacum
UBERON:6007435	\N	efo_slim	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0001056	"One of a pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain." [BTO:0000432, http://en.wikipedia.org/wiki/Corpus_cardiacum#Endocrine_system]	195968	\N	\N	uberon	0	EFO	endocrine system component	corpus cardiacum
UBERON:0002530	UBERON:0001056	efo_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0001056	"One of a pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain." [BTO:0000432, http://en.wikipedia.org/wiki/Corpus_cardiacum#Endocrine_system]	225276	efo_slim	efo_slim,uberon_slim	uberon	1	EFO	gland	corpus cardiacum
UBERON:0001057	\N	efo_slim,uberon_slim	"One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone)[BTO]." [BTO:0000291, http://en.wikipedia.org/wiki/Corpora_allata]	UBERON:0001057	"One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone)[BTO]." [BTO:0000291, http://en.wikipedia.org/wiki/Corpora_allata]	79648	\N	efo_slim,uberon_slim	uberon	0	EFO	corpus allatum	corpus allatum
UBERON:6007435	\N	efo_slim,uberon_slim	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0001057	"One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone)[BTO]." [BTO:0000291, http://en.wikipedia.org/wiki/Corpora_allata]	195969	\N	\N	uberon	0	EFO	endocrine system component	corpus allatum
UBERON:0002530	UBERON:0001057	efo_slim,uberon_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0001057	"One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone)[BTO]." [BTO:0000291, http://en.wikipedia.org/wiki/Corpora_allata]	225277	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	gland	corpus allatum
UBERON:0001058	\N	efo_slim,uberon_slim	"Prominent lobed neuropils found in annelids and all arthropods except crustaceans. They are thought to be involved in olfactory associative learning and memory[MESH] Mushroom body neuropils are divided into calyces, pedunculus, and its subsequent lobes. In Drosophila these are the alpha, beta, and gamma lobes." [http://flybrain.uni-freiburg.de/Flybrain/html/terms/terms.html, MESH:A13.641, Wikipedia:Mushroom_body]	UBERON:0001058	"Prominent lobed neuropils found in annelids and all arthropods except crustaceans. They are thought to be involved in olfactory associative learning and memory[MESH] Mushroom body neuropils are divided into calyces, pedunculus, and its subsequent lobes. In Drosophila these are the alpha, beta, and gamma lobes." [http://flybrain.uni-freiburg.de/Flybrain/html/terms/terms.html, MESH:A13.641, Wikipedia:Mushroom_body]	79649	\N	efo_slim,uberon_slim	uberon	0	EFO	mushroom body	mushroom body
UBERON:0000045	UBERON:0001058	efo_slim,uberon_slim	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	UBERON:0001058	"Prominent lobed neuropils found in annelids and all arthropods except crustaceans. They are thought to be involved in olfactory associative learning and memory[MESH] Mushroom body neuropils are divided into calyces, pedunculus, and its subsequent lobes. In Drosophila these are the alpha, beta, and gamma lobes." [http://flybrain.uni-freiburg.de/Flybrain/html/terms/terms.html, MESH:A13.641, Wikipedia:Mushroom_body]	225278	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	ganglion	mushroom body
UBERON:0001059	\N	efo_slim,uberon_slim	"a neurosecretory center of the insect brain, located along the anterior midline[wiktionary]. A medial cleft or depression dividing the left and right protocerebrum and containing numerous large and small somata of neurosecretory and neuromodulatory neurons[FBbt]." [http://en.wiktionary.org/wiki/pars_intercerebralis, http://flybrain.uni-freiburg.de/Flybrain/html/terms/terms.html]	UBERON:0001059	"a neurosecretory center of the insect brain, located along the anterior midline[wiktionary]. A medial cleft or depression dividing the left and right protocerebrum and containing numerous large and small somata of neurosecretory and neuromodulatory neurons[FBbt]." [http://en.wiktionary.org/wiki/pars_intercerebralis, http://flybrain.uni-freiburg.de/Flybrain/html/terms/terms.html]	79650	\N	efo_slim,uberon_slim	uberon	0	EFO	pars intercerebralis	pars intercerebralis
EFO:0003334	\N	efo_slim,uberon_slim	"" []	UBERON:0001059	"a neurosecretory center of the insect brain, located along the anterior midline[wiktionary]. A medial cleft or depression dividing the left and right protocerebrum and containing numerous large and small somata of neurosecretory and neuromodulatory neurons[FBbt]." [http://en.wiktionary.org/wiki/pars_intercerebralis, http://flybrain.uni-freiburg.de/Flybrain/html/terms/terms.html]	195970	\N	\N	uberon	0	EFO	Drosophila component	pars intercerebralis
UBERON:0001066	\N	efo_slim,uberon_slim	"A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core." [ISBN10:0073040584, Wikipedia:Intervertebral_disk]	UBERON:0001066	"A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core." [ISBN10:0073040584, Wikipedia:Intervertebral_disk]	79651	\N	efo_slim,uberon_slim	uberon	0	EFO	intervertebral disk	intervertebral disk
EFO:0001369	\N	efo_slim,uberon_slim	"The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins." []	UBERON:0001066	"A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core." [ISBN10:0073040584, Wikipedia:Intervertebral_disk]	195971	\N	\N	uberon	0	EFO	vertebral column structure	intervertebral disk
UBERON:0001070	\N	efo_slim,uberon_slim,vertebrate_core	"In human anatomy, the external carotid artery is a major artery of the head and neck. It arises from the common carotid artery when it bifurcates into the external and internal carotid artery." [https://sourceforge.net/tracker/?func=detail&aid=3486863&group_id=76834&atid=1127722, Wikipedia:External_carotid_artery]	UBERON:0001070	"In human anatomy, the external carotid artery is a major artery of the head and neck. It arises from the common carotid artery when it bifurcates into the external and internal carotid artery." [https://sourceforge.net/tracker/?func=detail&aid=3486863&group_id=76834&atid=1127722, Wikipedia:External_carotid_artery]	79652	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	external carotid artery	external carotid artery
UBERON:0001637	UBERON:0001070	efo_slim,uberon_slim,vertebrate_core	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0001070	"In human anatomy, the external carotid artery is a major artery of the head and neck. It arises from the common carotid artery when it bifurcates into the external and internal carotid artery." [https://sourceforge.net/tracker/?func=detail&aid=3486863&group_id=76834&atid=1127722, Wikipedia:External_carotid_artery]	225279	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	external carotid artery
UBERON:0001981	UBERON:0001637	efo_slim,uberon_slim,vertebrate_core	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0001070	"In human anatomy, the external carotid artery is a major artery of the head and neck. It arises from the common carotid artery when it bifurcates into the external and internal carotid artery." [https://sourceforge.net/tracker/?func=detail&aid=3486863&group_id=76834&atid=1127722, Wikipedia:External_carotid_artery]	582144	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	external carotid artery
UBERON:0001088	\N	efo_slim,uberon_slim	"Excretion in liquid state processed by the kidney.[FMA]" [FMA:FMA, Wikipedia:Urine]	UBERON:0001088	"Excretion in liquid state processed by the kidney.[FMA]" [FMA:FMA, Wikipedia:Urine]	79654	\N	efo_slim,uberon_slim	uberon	0	EFO	urine	urine
UBERON:0000174	\N	efo_slim,uberon_slim	"Excreta are bodily fluids consisting of waste matter, such as sweat or feces, discharged from the body." []	UBERON:0001088	"Excretion in liquid state processed by the kidney.[FMA]" [FMA:FMA, Wikipedia:Urine]	195973	\N	\N	uberon	0	EFO	excreta	urine
UBERON:0001103	\N	efo_slim,organ_slim,uberon_slim	"The diaphragm is a skeletal muscle that is responsible for contraction and expansion of the lungs[GO]." [GO:0060539, Wikipedia:Thoracid_diaphragm]	UBERON:0001103	"The diaphragm is a skeletal muscle that is responsible for contraction and expansion of the lungs[GO]." [GO:0060539, Wikipedia:Thoracid_diaphragm]	79656	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	diaphragm	diaphragm
EFO:0000787	\N	efo_slim,organ_slim,uberon_slim	"" []	UBERON:0001103	"The diaphragm is a skeletal muscle that is responsible for contraction and expansion of the lungs[GO]." [GO:0060539, Wikipedia:Thoracid_diaphragm]	195974	\N	\N	uberon	0	EFO	animal component	diaphragm
UBERON:0001111	\N	efo_slim,uberon_slim	"Intercostal muscles are several groups of muscles that run between the ribs, and help form and move the chest wall. There are three principal layers; the external intercostal muscles, which aid in quiet and forced inhalation. They originate on ribs 1-11 and have their insertion on ribs 2-12. The external intercostals are responsible for the elevation of the ribs, and expanding the transverse dimensions of the thoracic cavity. Located around the ribs the internal intercostal muscles, which aid in forced expiration (quiet expiration is a passive process). They originate on ribs 2-12 and have their insertions on ribs 1-11. The internal intercostals are responsible for the depression of the ribs decreasing the transverse dimensions of the thoracic cavity. the innermost intercostal muscle, the deep layers of the internal intercostal muscles which are separated from them by the neurovascular bundle. Both the external and internal muscles are innervated by the intercostal nerves, and are provided by the intercostal arteries and intercostal veins. Their fibers run in opposite directions. [WP,unvetted]." [Wikipedia:Intercostal_muscle]	UBERON:0001111	"Intercostal muscles are several groups of muscles that run between the ribs, and help form and move the chest wall. There are three principal layers; the external intercostal muscles, which aid in quiet and forced inhalation. They originate on ribs 1-11 and have their insertion on ribs 2-12. The external intercostals are responsible for the elevation of the ribs, and expanding the transverse dimensions of the thoracic cavity. Located around the ribs the internal intercostal muscles, which aid in forced expiration (quiet expiration is a passive process). They originate on ribs 2-12 and have their insertions on ribs 1-11. The internal intercostals are responsible for the depression of the ribs decreasing the transverse dimensions of the thoracic cavity. the innermost intercostal muscle, the deep layers of the internal intercostal muscles which are separated from them by the neurovascular bundle. Both the external and internal muscles are innervated by the intercostal nerves, and are provided by the intercostal arteries and intercostal veins. Their fibers run in opposite directions. [WP,unvetted]." [Wikipedia:Intercostal_muscle]	79657	\N	efo_slim,uberon_slim	uberon	0	EFO	intercostal muscle	intercostal muscle
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001111	"Intercostal muscles are several groups of muscles that run between the ribs, and help form and move the chest wall. There are three principal layers; the external intercostal muscles, which aid in quiet and forced inhalation. They originate on ribs 1-11 and have their insertion on ribs 2-12. The external intercostals are responsible for the elevation of the ribs, and expanding the transverse dimensions of the thoracic cavity. Located around the ribs the internal intercostal muscles, which aid in forced expiration (quiet expiration is a passive process). They originate on ribs 2-12 and have their insertions on ribs 1-11. The internal intercostals are responsible for the depression of the ribs decreasing the transverse dimensions of the thoracic cavity. the innermost intercostal muscle, the deep layers of the internal intercostal muscles which are separated from them by the neurovascular bundle. Both the external and internal muscles are innervated by the intercostal nerves, and are provided by the intercostal arteries and intercostal veins. Their fibers run in opposite directions. [WP,unvetted]." [Wikipedia:Intercostal_muscle]	195975	\N	\N	uberon	0	EFO	animal component	intercostal muscle
UBERON:0001124	\N	efo_slim,uberon_slim	"In human anatomy, the scapula, omo (Medical Latin), or shoulder blade, is the bone that connects the humerus (arm bone) with the clavicle (collar bone). The scapula forms the posterior (back) located part of the shoulder girdle. In humans, it is a flat bone, roughly triangular in shape, placed on a posterolateral aspect of the thoracic cage. [WP,unvetted]." [Wikipedia:Scapula]	UBERON:0001124	"In human anatomy, the scapula, omo (Medical Latin), or shoulder blade, is the bone that connects the humerus (arm bone) with the clavicle (collar bone). The scapula forms the posterior (back) located part of the shoulder girdle. In humans, it is a flat bone, roughly triangular in shape, placed on a posterolateral aspect of the thoracic cage. [WP,unvetted]." [Wikipedia:Scapula]	79658	\N	efo_slim,uberon_slim	uberon	0	EFO	pectoral limb scapula	pectoral limb scapula
EFO:0003858	\N	efo_slim,uberon_slim	"" []	UBERON:0001124	"In human anatomy, the scapula, omo (Medical Latin), or shoulder blade, is the bone that connects the humerus (arm bone) with the clavicle (collar bone). The scapula forms the posterior (back) located part of the shoulder girdle. In humans, it is a flat bone, roughly triangular in shape, placed on a posterolateral aspect of the thoracic cage. [WP,unvetted]." [Wikipedia:Scapula]	195976	\N	\N	uberon	0	EFO	skeleton structure	pectoral limb scapula
UBERON:0001137	\N	efo_slim,uberon_slim	"The dorsal part of an animal, which in vertebrares includes the vertebral column. [cjm]." [UBERONREF:0000006, Wikipedia:Dorsum_(anatomy)]	UBERON:0001137	"The dorsal part of an animal, which in vertebrares includes the vertebral column. [cjm]." [UBERONREF:0000006, Wikipedia:Dorsum_(anatomy)]	79661	\N	efo_slim,uberon_slim	uberon	0	EFO	dorsum	dorsum
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001137	"The dorsal part of an animal, which in vertebrares includes the vertebral column. [cjm]." [UBERONREF:0000006, Wikipedia:Dorsum_(anatomy)]	195977	\N	\N	uberon	0	EFO	animal component	dorsum
UBERON:0001153	\N	efo_slim,uberon_slim	"Pouch, connecting the ileum with the ascending colon of the large intestine. It is separated from the ileum by the ileocecal valve, and is the beginning of the large intestine. It is also separated from the colon by the cecocolic junction." [Wikipedia:Cecum]	UBERON:0001153	"Pouch, connecting the ileum with the ascending colon of the large intestine. It is separated from the ileum by the ileocecal valve, and is the beginning of the large intestine. It is also separated from the colon by the cecocolic junction." [Wikipedia:Cecum]	79662	\N	efo_slim,uberon_slim	uberon	0	EFO	caecum	caecum
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001153	"Pouch, connecting the ileum with the ascending colon of the large intestine. It is separated from the ileum by the ileocecal valve, and is the beginning of the large intestine. It is also separated from the colon by the cecocolic junction." [Wikipedia:Cecum]	195978	\N	\N	uberon	0	EFO	animal component	caecum
UBERON:0001154	\N	efo_slim,organ_slim,uberon_slim	"Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix." []	UBERON:0001154	"Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix." []	79663	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	vermiform appendix	vermiform appendix
EFO:0000787	\N	efo_slim,organ_slim,uberon_slim	"" []	UBERON:0001154	"Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix." []	195979	\N	\N	uberon	0	EFO	animal component	vermiform appendix
UBERON:0001155	\N	efo_slim,uberon_slim,vertebrate_core	"Last portion of the digestive system in most vertebrates; it extracts water and salt from solid wastes before they are eliminated from the body[WP] In mammals, the colon consists of four sections: the ascending colon, the transverse colon, the descending colon, and the sigmoid colon[WP]. In zebrafish, the posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-050120-6'>Wallace et al, 2005.</a>" [Wikipedia:Colon_(anatomy), ZFIN:curator]	UBERON:0001155	"Last portion of the digestive system in most vertebrates; it extracts water and salt from solid wastes before they are eliminated from the body[WP] In mammals, the colon consists of four sections: the ascending colon, the transverse colon, the descending colon, and the sigmoid colon[WP]. In zebrafish, the posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-050120-6'>Wallace et al, 2005.</a>" [Wikipedia:Colon_(anatomy), ZFIN:curator]	79664	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	colon	colon
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001155	"Last portion of the digestive system in most vertebrates; it extracts water and salt from solid wastes before they are eliminated from the body[WP] In mammals, the colon consists of four sections: the ascending colon, the transverse colon, the descending colon, and the sigmoid colon[WP]. In zebrafish, the posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-050120-6'>Wallace et al, 2005.</a>" [Wikipedia:Colon_(anatomy), ZFIN:curator]	195980	\N	\N	uberon	0	EFO	animal component	colon
UBERON:0001156	\N	efo_slim,uberon_slim	"Organ part which is continuous with the cecum proximally and the transverse colon distally.[FMA]" [FMA:FMA, Wikipedia:Ascending_colon]	UBERON:0001156	"Organ part which is continuous with the cecum proximally and the transverse colon distally.[FMA]" [FMA:FMA, Wikipedia:Ascending_colon]	79665	\N	efo_slim,uberon_slim	uberon	0	EFO	ascending colon	ascending colon
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001156	"Organ part which is continuous with the cecum proximally and the transverse colon distally.[FMA]" [FMA:FMA, Wikipedia:Ascending_colon]	195981	\N	\N	uberon	0	EFO	animal component	ascending colon
UBERON:0001157	\N	efo_slim,uberon_slim	"The transverse colon the longest and most movable part of the colon, passes with a downward convexity from the right hypochondrium region across the abdomen, opposite the confines of the epigastric and umbilical zones, into the left hypochondrium region, where it curves sharply on itself beneath the lower end of the spleen, forming the splenic or left colic flexure. The right colic flexure is adjacent to the liver. In its course, it describes an arch, the concavity of which is directed backward and a little upward; toward its splenic end there is often an abrupt U-shaped curve which may descend lower than the main curve. It is almost completely invested by peritoneum, and is connected to the inferior border of the pancreas by a large and wide duplicature of that membrane, the transverse mesocolon. It is in relation, by its upper surface, with the liver and gall-bladder, the greater curvature of the stomach, and the lower end of the spleen; by its under surface, with the small intestine; by its anterior surface, with the anterior layers of the greater omentum and the abdominal parietes; its posterior surface is in relation from right to left with the descending portion of the duodenum, the head of the pancreas, and some of the convolutions of the jejunum and ileum. [WP,unvetted]." [Wikipedia:Transverse_colon]	UBERON:0001157	"The transverse colon the longest and most movable part of the colon, passes with a downward convexity from the right hypochondrium region across the abdomen, opposite the confines of the epigastric and umbilical zones, into the left hypochondrium region, where it curves sharply on itself beneath the lower end of the spleen, forming the splenic or left colic flexure. The right colic flexure is adjacent to the liver. In its course, it describes an arch, the concavity of which is directed backward and a little upward; toward its splenic end there is often an abrupt U-shaped curve which may descend lower than the main curve. It is almost completely invested by peritoneum, and is connected to the inferior border of the pancreas by a large and wide duplicature of that membrane, the transverse mesocolon. It is in relation, by its upper surface, with the liver and gall-bladder, the greater curvature of the stomach, and the lower end of the spleen; by its under surface, with the small intestine; by its anterior surface, with the anterior layers of the greater omentum and the abdominal parietes; its posterior surface is in relation from right to left with the descending portion of the duodenum, the head of the pancreas, and some of the convolutions of the jejunum and ileum. [WP,unvetted]." [Wikipedia:Transverse_colon]	79666	\N	efo_slim,uberon_slim	uberon	0	EFO	transverse colon	transverse colon
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001157	"The transverse colon the longest and most movable part of the colon, passes with a downward convexity from the right hypochondrium region across the abdomen, opposite the confines of the epigastric and umbilical zones, into the left hypochondrium region, where it curves sharply on itself beneath the lower end of the spleen, forming the splenic or left colic flexure. The right colic flexure is adjacent to the liver. In its course, it describes an arch, the concavity of which is directed backward and a little upward; toward its splenic end there is often an abrupt U-shaped curve which may descend lower than the main curve. It is almost completely invested by peritoneum, and is connected to the inferior border of the pancreas by a large and wide duplicature of that membrane, the transverse mesocolon. It is in relation, by its upper surface, with the liver and gall-bladder, the greater curvature of the stomach, and the lower end of the spleen; by its under surface, with the small intestine; by its anterior surface, with the anterior layers of the greater omentum and the abdominal parietes; its posterior surface is in relation from right to left with the descending portion of the duodenum, the head of the pancreas, and some of the convolutions of the jejunum and ileum. [WP,unvetted]." [Wikipedia:Transverse_colon]	195982	\N	\N	uberon	0	EFO	animal component	transverse colon
UBERON:0001158	\N	efo_slim,uberon_slim	"The descending colon of humans passes downward through the left hypochondrium and lumbar regions, along the lateral border of the left kidney. At the lower end of the kidney it turns medialward toward the lateral border of the psoas muscle, and then descends, in the angle between psoas and quadratus lumborum, to the crest of the ilium, where it ends in the sigmoid colon. The peritoneum covers its anterior surface and sides, and therefore the descending colon is described as retroperitoneal. (The transverse colon and sigmoid colon, which are immediately proximal and distal, are intraperitoneal). Its posterior surface is connected by areolar tissue with the lower and lateral part of the left kidney, the aponeurotic origin of the transversus abdominis, and the quadratus lumborum. It is smaller in caliber and more deeply placed than the ascending colon. It has a mesentery in 33% of people, and is therefore more frequently covered with peritoneum on its posterior surface than the ascending colon (which has a mesentery in 25% of people). However, it is less likely to undergo volvulus than the ascending colon. In front of it are some coils of small intestine. [WP,unvetted]." [Wikipedia:Descending_colon]	UBERON:0001158	"The descending colon of humans passes downward through the left hypochondrium and lumbar regions, along the lateral border of the left kidney. At the lower end of the kidney it turns medialward toward the lateral border of the psoas muscle, and then descends, in the angle between psoas and quadratus lumborum, to the crest of the ilium, where it ends in the sigmoid colon. The peritoneum covers its anterior surface and sides, and therefore the descending colon is described as retroperitoneal. (The transverse colon and sigmoid colon, which are immediately proximal and distal, are intraperitoneal). Its posterior surface is connected by areolar tissue with the lower and lateral part of the left kidney, the aponeurotic origin of the transversus abdominis, and the quadratus lumborum. It is smaller in caliber and more deeply placed than the ascending colon. It has a mesentery in 33% of people, and is therefore more frequently covered with peritoneum on its posterior surface than the ascending colon (which has a mesentery in 25% of people). However, it is less likely to undergo volvulus than the ascending colon. In front of it are some coils of small intestine. [WP,unvetted]." [Wikipedia:Descending_colon]	79667	\N	efo_slim,uberon_slim	uberon	0	EFO	descending colon	descending colon
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001158	"The descending colon of humans passes downward through the left hypochondrium and lumbar regions, along the lateral border of the left kidney. At the lower end of the kidney it turns medialward toward the lateral border of the psoas muscle, and then descends, in the angle between psoas and quadratus lumborum, to the crest of the ilium, where it ends in the sigmoid colon. The peritoneum covers its anterior surface and sides, and therefore the descending colon is described as retroperitoneal. (The transverse colon and sigmoid colon, which are immediately proximal and distal, are intraperitoneal). Its posterior surface is connected by areolar tissue with the lower and lateral part of the left kidney, the aponeurotic origin of the transversus abdominis, and the quadratus lumborum. It is smaller in caliber and more deeply placed than the ascending colon. It has a mesentery in 33% of people, and is therefore more frequently covered with peritoneum on its posterior surface than the ascending colon (which has a mesentery in 25% of people). However, it is less likely to undergo volvulus than the ascending colon. In front of it are some coils of small intestine. [WP,unvetted]." [Wikipedia:Descending_colon]	195983	\N	\N	uberon	0	EFO	animal component	descending colon
UBERON:0001159	\N	efo_slim,uberon_slim	"the part of the large intestine that is closest to the rectum and anus. It forms a loop that averages about 40 cm. in length, and normally lies within the pelvis, but on account of its freedom of movement it is liable to be displaced into the abdominal cavity." [Wikipedia:Sigmoid_colon]	UBERON:0001159	"the part of the large intestine that is closest to the rectum and anus. It forms a loop that averages about 40 cm. in length, and normally lies within the pelvis, but on account of its freedom of movement it is liable to be displaced into the abdominal cavity." [Wikipedia:Sigmoid_colon]	79668	\N	efo_slim,uberon_slim	uberon	0	EFO	sigmoid colon	sigmoid colon
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001159	"the part of the large intestine that is closest to the rectum and anus. It forms a loop that averages about 40 cm. in length, and normally lies within the pelvis, but on account of its freedom of movement it is liable to be displaced into the abdominal cavity." [Wikipedia:Sigmoid_colon]	195984	\N	\N	uberon	0	EFO	animal component	sigmoid colon
UBERON:0001160	\N	efo_slim,uberon_slim	"The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong]." [GO:0014825, ISBN10:0073040584, Wikipedia:Fundus_%28stomach%29]	UBERON:0001160	"The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong]." [GO:0014825, ISBN10:0073040584, Wikipedia:Fundus_%28stomach%29]	79669	\N	efo_slim,uberon_slim	uberon	0	EFO	fundus of stomach	fundus of stomach
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001160	"The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong]." [GO:0014825, ISBN10:0073040584, Wikipedia:Fundus_%28stomach%29]	195985	\N	\N	uberon	0	EFO	animal component	fundus of stomach
UBERON:0001165	\N	efo_slim,uberon_slim	"Pyloric antrum (antrum, lesser cul-de-sac) is the initial portion of the pyloric part of the stomach. It is near the bottom of the stomach on the left side of the pyloric sphincter, which separates the stomach and the duodenum. It may temporarily become partially or completely shut off from the remainder of the stomach during digestion by peristaltic contraction of the prepyloric sphincter; it is demarcated, sometimes, from the second part of the pyloric part of the stomach by a slight groove. [WP,unvetted]." [Wikipedia:Pyloric_antrum]	UBERON:0001165	"Pyloric antrum (antrum, lesser cul-de-sac) is the initial portion of the pyloric part of the stomach. It is near the bottom of the stomach on the left side of the pyloric sphincter, which separates the stomach and the duodenum. It may temporarily become partially or completely shut off from the remainder of the stomach during digestion by peristaltic contraction of the prepyloric sphincter; it is demarcated, sometimes, from the second part of the pyloric part of the stomach by a slight groove. [WP,unvetted]." [Wikipedia:Pyloric_antrum]	79670	\N	efo_slim,uberon_slim	uberon	0	EFO	pyloric antrum	pyloric antrum
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001165	"Pyloric antrum (antrum, lesser cul-de-sac) is the initial portion of the pyloric part of the stomach. It is near the bottom of the stomach on the left side of the pyloric sphincter, which separates the stomach and the duodenum. It may temporarily become partially or completely shut off from the remainder of the stomach during digestion by peristaltic contraction of the prepyloric sphincter; it is demarcated, sometimes, from the second part of the pyloric part of the stomach by a slight groove. [WP,unvetted]." [Wikipedia:Pyloric_antrum]	195986	\N	\N	uberon	0	EFO	animal component	pyloric antrum
UBERON:0001184	\N	efo_slim,uberon_slim,vertebrate_core	"One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates." [ISBN10:0073040584, Wikipedia:Renal_artery]	UBERON:0001184	"One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates." [ISBN10:0073040584, Wikipedia:Renal_artery]	79672	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	renal artery	renal artery
UBERON:0001637	UBERON:0001184	efo_slim,uberon_slim,vertebrate_core	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0001184	"One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates." [ISBN10:0073040584, Wikipedia:Renal_artery]	225280	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	renal artery
UBERON:0001981	UBERON:0001637	efo_slim,uberon_slim,vertebrate_core	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0001184	"One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates." [ISBN10:0073040584, Wikipedia:Renal_artery]	582145	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	renal artery
UBERON:0001211	\N	efo_slim,uberon_slim	"aggregations of lymphoid tissue that are usually found in the lowest portion of the small intestine ileum in humans; as such, they differentiate the ileum from the duodenum and jejunum // nodular lymphoid structures on the serosal surface of the small intestine." [Wikipedia:Peyer's_patch]	UBERON:0001211	"aggregations of lymphoid tissue that are usually found in the lowest portion of the small intestine ileum in humans; as such, they differentiate the ileum from the duodenum and jejunum // nodular lymphoid structures on the serosal surface of the small intestine." [Wikipedia:Peyer's_patch]	79673	\N	efo_slim,uberon_slim	uberon	0	EFO	Peyer's patch	Peyer's patch
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001211	"aggregations of lymphoid tissue that are usually found in the lowest portion of the small intestine ileum in humans; as such, they differentiate the ileum from the duodenum and jejunum // nodular lymphoid structures on the serosal surface of the small intestine." [Wikipedia:Peyer's_patch]	195987	\N	\N	uberon	0	EFO	animal component	Peyer's patch
UBERON:0001225	\N	pheno_slim,uberon_slim	"" []	UBERON:0001225	"" []	79674	\N	pheno_slim,uberon_slim	uberon	0	EFO	cortex of kidney	cortex of kidney
EFO:0000787	\N	pheno_slim,uberon_slim	"" []	UBERON:0001225	"" []	195988	\N	\N	uberon	0	EFO	animal component	cortex of kidney
UBERON:0001231	\N	efo_slim,uberon_slim,vertebrate_core	"Renal duct that collects filtrate from the renal corpuscle and transports it to the collecting duct.  Different parts of the renal tubule reabsorb specific components of the filtrate to leave only waste." []	UBERON:0001231	"Renal duct that collects filtrate from the renal corpuscle and transports it to the collecting duct.  Different parts of the renal tubule reabsorb specific components of the filtrate to leave only waste." []	79675	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	nephron tubule	nephron tubule
EFO:0003331	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001231	"Renal duct that collects filtrate from the renal corpuscle and transports it to the collecting duct.  Different parts of the renal tubule reabsorb specific components of the filtrate to leave only waste." []	195989	\N	\N	uberon	0	EFO	zebrafish component	nephron tubule
UBERON:0001235	\N	efo_slim,uberon_slim	"Situated along the perimeter of the adrenal gland, the adrenal cortex mediates the stress response through the production of mineralocorticoids and glucocorticoids, including aldosterone and cortisol respectively. It is also a secondary site of androgen synthesis. [WP,unvetted]." [Wikipedia:Adrenal_cortex]	UBERON:0001235	"Situated along the perimeter of the adrenal gland, the adrenal cortex mediates the stress response through the production of mineralocorticoids and glucocorticoids, including aldosterone and cortisol respectively. It is also a secondary site of androgen synthesis. [WP,unvetted]." [Wikipedia:Adrenal_cortex]	79676	\N	efo_slim,uberon_slim	uberon	0	EFO	adrenal cortex	adrenal cortex
UBERON:6007435	\N	efo_slim,uberon_slim	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0001235	"Situated along the perimeter of the adrenal gland, the adrenal cortex mediates the stress response through the production of mineralocorticoids and glucocorticoids, including aldosterone and cortisol respectively. It is also a secondary site of androgen synthesis. [WP,unvetted]." [Wikipedia:Adrenal_cortex]	195990	\N	\N	uberon	0	EFO	endocrine system component	adrenal cortex
UBERON:0001236	\N	efo_slim,uberon_slim	"The adrenal medulla is part of the adrenal gland. It is located at the center of the gland, being surrounded by the adrenal cortex. It is the innermost part of the adrenal gland, consisting of cells that secrete epinephrine, norepinephrine, and a small amount of dopamine in response to stimulation by sympathetic preganglionic neurons. Composed mainly of hormone-producing chromaffin cells, the adrenal medulla is the principal site of the conversion of the amino acid tyrosine into the catecholamines adrenaline (epinephrine), noradrenaline (norepinephrine), and dopamine[WP,unvetted]." [Wikipedia:Adrenal_medulla]	UBERON:0001236	"The adrenal medulla is part of the adrenal gland. It is located at the center of the gland, being surrounded by the adrenal cortex. It is the innermost part of the adrenal gland, consisting of cells that secrete epinephrine, norepinephrine, and a small amount of dopamine in response to stimulation by sympathetic preganglionic neurons. Composed mainly of hormone-producing chromaffin cells, the adrenal medulla is the principal site of the conversion of the amino acid tyrosine into the catecholamines adrenaline (epinephrine), noradrenaline (norepinephrine), and dopamine[WP,unvetted]." [Wikipedia:Adrenal_medulla]	79677	\N	efo_slim,uberon_slim	uberon	0	EFO	adrenal medulla	adrenal medulla
UBERON:6007435	\N	efo_slim,uberon_slim	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0001236	"The adrenal medulla is part of the adrenal gland. It is located at the center of the gland, being surrounded by the adrenal cortex. It is the innermost part of the adrenal gland, consisting of cells that secrete epinephrine, norepinephrine, and a small amount of dopamine in response to stimulation by sympathetic preganglionic neurons. Composed mainly of hormone-producing chromaffin cells, the adrenal medulla is the principal site of the conversion of the amino acid tyrosine into the catecholamines adrenaline (epinephrine), noradrenaline (norepinephrine), and dopamine[WP,unvetted]." [Wikipedia:Adrenal_medulla]	195991	\N	\N	uberon	0	EFO	endocrine system component	adrenal medulla
UBERON:0001255	\N	efo_slim,major_organ,organ_slim,uberon_slim	"distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]." [MGI:anna, Wikipedia:Urinary_bladder]	UBERON:0001255	"distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]." [MGI:anna, Wikipedia:Urinary_bladder]	79678	\N	efo_slim,major_organ,organ_slim,uberon_slim	uberon	0	EFO	urinary bladder	urinary bladder
EFO:0000787	\N	efo_slim,major_organ,organ_slim,uberon_slim	"" []	UBERON:0001255	"distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]." [MGI:anna, Wikipedia:Urinary_bladder]	195992	\N	\N	uberon	0	EFO	animal component	urinary bladder
UBERON:0001264	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. The mature pancreas of higher vertebrates and mammals comprises two major functional units: the exocrine pancreas, which is responsible for the production of digestive enzymes to be secreted into the gut lumen, and the endocrine pancreas, which has its role in the synthesis of several hormones with key regulatory functions in food uptake and metabolism. The exocrine portion constitutes the majority of the mass of the pancreas, and contains only two different cell types, the secretory acinar cells and the ductular cells. The endocrine portion, which comprises only 12% of the total mass, contains five different cell types, which are organized into mixed functional assemblies referred to as the islets of Langerhans[PMID]." [GO:0031016, PMID:16417468, Wikipedia:Pancreas]	UBERON:0001264	"An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. The mature pancreas of higher vertebrates and mammals comprises two major functional units: the exocrine pancreas, which is responsible for the production of digestive enzymes to be secreted into the gut lumen, and the endocrine pancreas, which has its role in the synthesis of several hormones with key regulatory functions in food uptake and metabolism. The exocrine portion constitutes the majority of the mass of the pancreas, and contains only two different cell types, the secretory acinar cells and the ductular cells. The endocrine portion, which comprises only 12% of the total mass, contains five different cell types, which are organized into mixed functional assemblies referred to as the islets of Langerhans[PMID]." [GO:0031016, PMID:16417468, Wikipedia:Pancreas]	79680	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	pancreas	pancreas
UBERON:6007435	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0001264	"An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. The mature pancreas of higher vertebrates and mammals comprises two major functional units: the exocrine pancreas, which is responsible for the production of digestive enzymes to be secreted into the gut lumen, and the endocrine pancreas, which has its role in the synthesis of several hormones with key regulatory functions in food uptake and metabolism. The exocrine portion constitutes the majority of the mass of the pancreas, and contains only two different cell types, the secretory acinar cells and the ductular cells. The endocrine portion, which comprises only 12% of the total mass, contains five different cell types, which are organized into mixed functional assemblies referred to as the islets of Langerhans[PMID]." [GO:0031016, PMID:16417468, Wikipedia:Pancreas]	195994	\N	\N	uberon	0	EFO	endocrine system component	pancreas
UBERON:0001273	\N	efo_slim,uberon_slim	"Paired endochondral bone that is the dorsal-most of the pelvic bones, offering attachment areas for gluteal muscles on its main surface [PHENOSCAPE:ad]." [PHENOSCAPE:ad]	UBERON:0001273	"Paired endochondral bone that is the dorsal-most of the pelvic bones, offering attachment areas for gluteal muscles on its main surface [PHENOSCAPE:ad]." [PHENOSCAPE:ad]	79681	\N	efo_slim,uberon_slim	uberon	0	EFO	ilium	ilium
EFO:0003858	\N	efo_slim,uberon_slim	"" []	UBERON:0001273	"Paired endochondral bone that is the dorsal-most of the pelvic bones, offering attachment areas for gluteal muscles on its main surface [PHENOSCAPE:ad]." [PHENOSCAPE:ad]	195995	\N	\N	uberon	0	EFO	skeleton structure	ilium
UBERON:0001277	\N	uberon_slim,vertebrate_core	"\\nThe innermost membrane of the four coats of the intestinal wall, the other three being the submucosa, muscular layers, and serosa. (Berk et al., Gastroenterology, 4th ed, v.3, p1479)\\n" []	UBERON:0001277	"\\nThe innermost membrane of the four coats of the intestinal wall, the other three being the submucosa, muscular layers, and serosa. (Berk et al., Gastroenterology, 4th ed, v.3, p1479)\\n" []	79682	\N	uberon_slim,vertebrate_core	uberon	0	EFO	intestinal epithelium	intestinal epithelium
EFO:0000787	\N	uberon_slim,vertebrate_core	"" []	UBERON:0001277	"\\nThe innermost membrane of the four coats of the intestinal wall, the other three being the submucosa, muscular layers, and serosa. (Berk et al., Gastroenterology, 4th ed, v.3, p1479)\\n" []	195996	\N	\N	uberon	0	EFO	animal component	intestinal epithelium
UBERON:0001295	\N	efo_slim,uberon_slim	"inner mucous membrane of the mammalian uterus." [Wikipedia:Endometrium]	UBERON:0001295	"inner mucous membrane of the mammalian uterus." [Wikipedia:Endometrium]	79683	\N	efo_slim,uberon_slim	uberon	0	EFO	endometrium	endometrium
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001295	"inner mucous membrane of the mammalian uterus." [Wikipedia:Endometrium]	195997	\N	\N	uberon	0	EFO	animal component	endometrium
UBERON:0001296	\N	efo_slim,uberon_slim	"middle layer of the uterine wall consisting of smooth muscle cells and supporting stromal and vascular tissue." [Wikipedia:Myometrium]	UBERON:0001296	"middle layer of the uterine wall consisting of smooth muscle cells and supporting stromal and vascular tissue." [Wikipedia:Myometrium]	79684	\N	efo_slim,uberon_slim	uberon	0	EFO	myometrium	myometrium
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001296	"middle layer of the uterine wall consisting of smooth muscle cells and supporting stromal and vascular tissue." [Wikipedia:Myometrium]	195998	\N	\N	uberon	0	EFO	animal component	myometrium
UBERON:0001301	\N	efo_slim,uberon_slim	"A narrow, tightly-coiled tube connecting the efferent ducts from the rear of each testicle to its vas deferens." [Wikipedia:Epididymis]	UBERON:0001301	"A narrow, tightly-coiled tube connecting the efferent ducts from the rear of each testicle to its vas deferens." [Wikipedia:Epididymis]	79685	\N	efo_slim,uberon_slim	uberon	0	EFO	epididymis	epididymis
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001301	"A narrow, tightly-coiled tube connecting the efferent ducts from the rear of each testicle to its vas deferens." [Wikipedia:Epididymis]	195999	\N	\N	uberon	0	EFO	animal component	epididymis
UBERON:0001322	\N	efo_slim,uberon_slim	"The sciatic nerve (also known as the ischiatic nerve) is a large nerve in humans and other animals. It begins in the lower back and runs through the buttock and down the lower limb. It is the longest and widest single nerve in the human body. The sciatic supplies nearly the whole of the skin of the leg, the muscles of the back of the thigh, and those of the leg and foot. In humans, it is derived from spinal nerves L4 through S3. It contains fibres from both the anterior and posterior divisions of the lumbosacral plexus. [WP,edited]." [Wikipedia:Sciatic_nerve]	UBERON:0001322	"The sciatic nerve (also known as the ischiatic nerve) is a large nerve in humans and other animals. It begins in the lower back and runs through the buttock and down the lower limb. It is the longest and widest single nerve in the human body. The sciatic supplies nearly the whole of the skin of the leg, the muscles of the back of the thigh, and those of the leg and foot. In humans, it is derived from spinal nerves L4 through S3. It contains fibres from both the anterior and posterior divisions of the lumbosacral plexus. [WP,edited]." [Wikipedia:Sciatic_nerve]	79686	\N	efo_slim,uberon_slim	uberon	0	EFO	sciatic nerve	sciatic nerve
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001322	"The sciatic nerve (also known as the ischiatic nerve) is a large nerve in humans and other animals. It begins in the lower back and runs through the buttock and down the lower limb. It is the longest and widest single nerve in the human body. The sciatic supplies nearly the whole of the skin of the leg, the muscles of the back of the thigh, and those of the leg and foot. In humans, it is derived from spinal nerves L4 through S3. It contains fibres from both the anterior and posterior divisions of the lumbosacral plexus. [WP,edited]." [Wikipedia:Sciatic_nerve]	196000	\N	\N	uberon	0	EFO	animal component	sciatic nerve
UBERON:0001323	\N	uberon_slim	"The tibial nerve is a branch of the sciatic nerve. The tibial nerve passes through the popliteal fossa to pass below the arch of soleus. In the popliteal fossa the nerve gives off branches to gastrocnemius, popliteus, soleus and plantaris muscles, an articular branch to the knee joint, and a cutaneous branch that will become the sural nerve. The sural nerve is joined by fibres from the common peroneal nerve and runs down the calf to supply the lateral side of the foot. Below the soleus muscle the nerve lies close to the tibia and supplies the tibialis posterior, the flexor digitorum longus and the flexor hallucis longus. The nerve passes into the foot running posterior to the medial malleolus. Here it is bound down by the flexor retinaculum in company with the posterior tibial artery. [WP,unvetted]." []	UBERON:0001323	"The tibial nerve is a branch of the sciatic nerve. The tibial nerve passes through the popliteal fossa to pass below the arch of soleus. In the popliteal fossa the nerve gives off branches to gastrocnemius, popliteus, soleus and plantaris muscles, an articular branch to the knee joint, and a cutaneous branch that will become the sural nerve. The sural nerve is joined by fibres from the common peroneal nerve and runs down the calf to supply the lateral side of the foot. Below the soleus muscle the nerve lies close to the tibia and supplies the tibialis posterior, the flexor digitorum longus and the flexor hallucis longus. The nerve passes into the foot running posterior to the medial malleolus. Here it is bound down by the flexor retinaculum in company with the posterior tibial artery. [WP,unvetted]." []	79687	\N	uberon_slim	uberon	0	EFO	tibial nerve	tibial nerve
EFO:0000787	\N	uberon_slim	"" []	UBERON:0001323	"The tibial nerve is a branch of the sciatic nerve. The tibial nerve passes through the popliteal fossa to pass below the arch of soleus. In the popliteal fossa the nerve gives off branches to gastrocnemius, popliteus, soleus and plantaris muscles, an articular branch to the knee joint, and a cutaneous branch that will become the sural nerve. The sural nerve is joined by fibres from the common peroneal nerve and runs down the calf to supply the lateral side of the foot. Below the soleus muscle the nerve lies close to the tibia and supplies the tibialis posterior, the flexor digitorum longus and the flexor hallucis longus. The nerve passes into the foot running posterior to the medial malleolus. Here it is bound down by the flexor retinaculum in company with the posterior tibial artery. [WP,unvetted]." []	196001	\N	\N	uberon	0	EFO	animal component	tibial nerve
UBERON:0001332	\N	efo_slim,uberon_slim	"In male human anatomy, the foreskin is a retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect. It is also described as the prepuce, a technically broader term that also includes the clitoral hood in women, to which the foreskin is embryonically homologous. [WP,unvetted]." [Wikipedia:Foreskin]	UBERON:0001332	"In male human anatomy, the foreskin is a retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect. It is also described as the prepuce, a technically broader term that also includes the clitoral hood in women, to which the foreskin is embryonically homologous. [WP,unvetted]." [Wikipedia:Foreskin]	79688	\N	efo_slim,uberon_slim	uberon	0	EFO	prepuce of penis	prepuce of penis
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001332	"In male human anatomy, the foreskin is a retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect. It is also described as the prepuce, a technically broader term that also includes the clitoral hood in women, to which the foreskin is embryonically homologous. [WP,unvetted]." [Wikipedia:Foreskin]	196002	\N	\N	uberon	0	EFO	animal component	prepuce of penis
UBERON:0001347	\N	efo_slim,uberon_slim	"Connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels[MP,modified]" [ISBN:0-683-40008-8, MP:0005670]	UBERON:0001347	"Connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels[MP,modified]" [ISBN:0-683-40008-8, MP:0005670]	79689	\N	efo_slim,uberon_slim	uberon	0	EFO	white adipose tissue	white adipose tissue
UBERON:0001013	UBERON:0001347	efo_slim,uberon_slim	"Connective tissue composed of adipocytes." [Wikipedia:Adipose_tissue]	UBERON:0001347	"Connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels[MP,modified]" [ISBN:0-683-40008-8, MP:0005670]	225281	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	adipose tissue	white adipose tissue
UBERON:0001348	\N	efo_slim,uberon_slim	"A thermogenic form of adipose tissue that is composed of brown adipocytes[MP,modified]" [MGI:smb, MP:0011698]	UBERON:0001348	"A thermogenic form of adipose tissue that is composed of brown adipocytes[MP,modified]" [MGI:smb, MP:0011698]	79690	\N	efo_slim,uberon_slim	uberon	0	EFO	brown adipose tissue	brown adipose tissue
UBERON:0001013	UBERON:0001348	efo_slim,uberon_slim	"Connective tissue composed of adipocytes." [Wikipedia:Adipose_tissue]	UBERON:0001348	"A thermogenic form of adipose tissue that is composed of brown adipocytes[MP,modified]" [MGI:smb, MP:0011698]	225282	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	adipose tissue	brown adipose tissue
UBERON:0001353	\N	efo_slim,uberon_slim	"The anus and surrounding regions. Encompasses both internal and external regions, where present" [https://orcid.org/0000-0002-6601-2165]	UBERON:0001353	"The anus and surrounding regions. Encompasses both internal and external regions, where present" [https://orcid.org/0000-0002-6601-2165]	79691	\N	efo_slim,uberon_slim	uberon	0	EFO	anal region	anal region
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001353	"The anus and surrounding regions. Encompasses both internal and external regions, where present" [https://orcid.org/0000-0002-6601-2165]	196003	\N	\N	uberon	0	EFO	animal component	anal region
UBERON:0001359	\N	efo_slim,uberon_slim,vertebrate_core	"a clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord." [Wikipedia:Cerebrospinal_fluid]	UBERON:0001359	"a clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord." [Wikipedia:Cerebrospinal_fluid]	79692	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	cerebrospinal fluid	cerebrospinal fluid
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001359	"a clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord." [Wikipedia:Cerebrospinal_fluid]	196004	\N	\N	uberon	0	EFO	animal component	cerebrospinal fluid
UBERON:0001374	\N	efo_slim,uberon_slim	"The biceps femoris is a muscle of the posterior (the back) thigh. As its name implies, it has two parts, one of which (the long head) forms part of the hamstrings muscle group. [WP,unvetted]." [Wikipedia:Biceps_femoris_muscle]	UBERON:0001374	"The biceps femoris is a muscle of the posterior (the back) thigh. As its name implies, it has two parts, one of which (the long head) forms part of the hamstrings muscle group. [WP,unvetted]." [Wikipedia:Biceps_femoris_muscle]	79693	\N	efo_slim,uberon_slim	uberon	0	EFO	biceps femoris	biceps femoris
UBERON:0003663	UBERON:0001374	efo_slim,uberon_slim	"A muscle organ that is part of a hindlimb [Automatically generated definition]." [OBOL:automatic]	UBERON:0001374	"The biceps femoris is a muscle of the posterior (the back) thigh. As its name implies, it has two parts, one of which (the long head) forms part of the hamstrings muscle group. [WP,unvetted]." [Wikipedia:Biceps_femoris_muscle]	225283	efo_slim,uberon_slim	efo_slim	uberon	1	EFO	hindlimb muscle	biceps femoris
UBERON:0001377	\N	efo_slim,uberon_slim	"The quadriceps femoris, also called simply the quadriceps, quadriceps extensor, quads, is a large muscle group that includes the four prevailing muscles on the front of the thigh. It is the great extensor muscle of the knee, forming a large fleshy mass which covers the front and sides of the femur. It is the strongest and leanest muscle in the human body. It is subdivided into four separate portions or 'heads', which have received distinctive names: Rectus femoris occupies the middle of the thigh, covering most of the other three quadriceps muscles. It originates on the ilium. It is named from its straight course. The other three lie deep to rectus femoris and originate from the body of the femur, which they cover from the trochanters to the condyles: Vastus lateralis is on the lateral side of the femur (i.e. on the outer side of the thigh). Vastus medialis is on the medial side of the femur (i.e. on the inner part thigh). Vastus intermedius lies between vastus lateralis and vastus medialis on the front of the femur (i.e. on the top or front of the thigh). All four parts of the quadriceps muscle attach to the patella (knee cap) via the quadriceps tendon. The quadriceps is also involved in Lombard's Paradox. The proper plural form of the adjective quadriceps is quadricipes, a form not in general use; instead, quadriceps is used in both singular and plural (i.e. , when referring to both legs). The form quadricep &#91;sic&#93;, though common even in professional contexts, is incorrect. The error may derive from a mistaken belief that quadriceps is a plural noun (rather than an adjective in the singular), since English typically forms its plurals with the addition of the letter s to the end of a word stem. [WP,unvetted]." [Wikipedia:Quadriceps_femoris_muscle]	UBERON:0001377	"The quadriceps femoris, also called simply the quadriceps, quadriceps extensor, quads, is a large muscle group that includes the four prevailing muscles on the front of the thigh. It is the great extensor muscle of the knee, forming a large fleshy mass which covers the front and sides of the femur. It is the strongest and leanest muscle in the human body. It is subdivided into four separate portions or 'heads', which have received distinctive names: Rectus femoris occupies the middle of the thigh, covering most of the other three quadriceps muscles. It originates on the ilium. It is named from its straight course. The other three lie deep to rectus femoris and originate from the body of the femur, which they cover from the trochanters to the condyles: Vastus lateralis is on the lateral side of the femur (i.e. on the outer side of the thigh). Vastus medialis is on the medial side of the femur (i.e. on the inner part thigh). Vastus intermedius lies between vastus lateralis and vastus medialis on the front of the femur (i.e. on the top or front of the thigh). All four parts of the quadriceps muscle attach to the patella (knee cap) via the quadriceps tendon. The quadriceps is also involved in Lombard's Paradox. The proper plural form of the adjective quadriceps is quadricipes, a form not in general use; instead, quadriceps is used in both singular and plural (i.e. , when referring to both legs). The form quadricep &#91;sic&#93;, though common even in professional contexts, is incorrect. The error may derive from a mistaken belief that quadriceps is a plural noun (rather than an adjective in the singular), since English typically forms its plurals with the addition of the letter s to the end of a word stem. [WP,unvetted]." [Wikipedia:Quadriceps_femoris_muscle]	79694	\N	efo_slim,uberon_slim	uberon	0	EFO	quadriceps femoris	quadriceps femoris
UBERON:0003663	UBERON:0001377	efo_slim,uberon_slim	"A muscle organ that is part of a hindlimb [Automatically generated definition]." [OBOL:automatic]	UBERON:0001377	"The quadriceps femoris, also called simply the quadriceps, quadriceps extensor, quads, is a large muscle group that includes the four prevailing muscles on the front of the thigh. It is the great extensor muscle of the knee, forming a large fleshy mass which covers the front and sides of the femur. It is the strongest and leanest muscle in the human body. It is subdivided into four separate portions or 'heads', which have received distinctive names: Rectus femoris occupies the middle of the thigh, covering most of the other three quadriceps muscles. It originates on the ilium. It is named from its straight course. The other three lie deep to rectus femoris and originate from the body of the femur, which they cover from the trochanters to the condyles: Vastus lateralis is on the lateral side of the femur (i.e. on the outer side of the thigh). Vastus medialis is on the medial side of the femur (i.e. on the inner part thigh). Vastus intermedius lies between vastus lateralis and vastus medialis on the front of the femur (i.e. on the top or front of the thigh). All four parts of the quadriceps muscle attach to the patella (knee cap) via the quadriceps tendon. The quadriceps is also involved in Lombard's Paradox. The proper plural form of the adjective quadriceps is quadricipes, a form not in general use; instead, quadriceps is used in both singular and plural (i.e. , when referring to both legs). The form quadricep &#91;sic&#93;, though common even in professional contexts, is incorrect. The error may derive from a mistaken belief that quadriceps is a plural noun (rather than an adjective in the singular), since English typically forms its plurals with the addition of the letter s to the end of a word stem. [WP,unvetted]." [Wikipedia:Quadriceps_femoris_muscle]	225284	efo_slim,uberon_slim	efo_slim	uberon	1	EFO	hindlimb muscle	quadriceps femoris
UBERON:0001379	\N	efo_slim,uberon_slim	"The Vastus lateralis (Vastus externus) is the largest part of the Quadriceps femoris. It arises by a broad aponeurosis, which is attached to the upper part of the intertrochanteric line, to the anterior and inferior borders of the greater trochanter, to the lateral lip of the gluteal tuberosity, and to the upper half of the lateral lip of the linea aspera; this aponeurosis covers the upper three-fourths of the muscle, and from its deep surface many fibers take origin. A few additional fibers arise from the tendon of the Glutus maximus, and from the lateral intermuscular septum between the Vastus lateralis and short head of the Biceps femoris. The fibers form a large fleshy mass, which is attached to a strong aponeurosis, placed on the deep surface of the lower part of the muscle: this aponeurosis becomes contracted and thickened into a flat tendon inserted into the lateral border of the patella, blending with the Quadriceps femoris tendon, and giving an expansion to the capsule of the knee-joint. [WP,unvetted]." [Wikipedia:Vastus_lateralis]	UBERON:0001379	"The Vastus lateralis (Vastus externus) is the largest part of the Quadriceps femoris. It arises by a broad aponeurosis, which is attached to the upper part of the intertrochanteric line, to the anterior and inferior borders of the greater trochanter, to the lateral lip of the gluteal tuberosity, and to the upper half of the lateral lip of the linea aspera; this aponeurosis covers the upper three-fourths of the muscle, and from its deep surface many fibers take origin. A few additional fibers arise from the tendon of the Glutus maximus, and from the lateral intermuscular septum between the Vastus lateralis and short head of the Biceps femoris. The fibers form a large fleshy mass, which is attached to a strong aponeurosis, placed on the deep surface of the lower part of the muscle: this aponeurosis becomes contracted and thickened into a flat tendon inserted into the lateral border of the patella, blending with the Quadriceps femoris tendon, and giving an expansion to the capsule of the knee-joint. [WP,unvetted]." [Wikipedia:Vastus_lateralis]	79695	\N	efo_slim,uberon_slim	uberon	0	EFO	vastus lateralis	vastus lateralis
UBERON:0003663	UBERON:0001379	efo_slim,uberon_slim	"A muscle organ that is part of a hindlimb [Automatically generated definition]." [OBOL:automatic]	UBERON:0001379	"The Vastus lateralis (Vastus externus) is the largest part of the Quadriceps femoris. It arises by a broad aponeurosis, which is attached to the upper part of the intertrochanteric line, to the anterior and inferior borders of the greater trochanter, to the lateral lip of the gluteal tuberosity, and to the upper half of the lateral lip of the linea aspera; this aponeurosis covers the upper three-fourths of the muscle, and from its deep surface many fibers take origin. A few additional fibers arise from the tendon of the Glutus maximus, and from the lateral intermuscular septum between the Vastus lateralis and short head of the Biceps femoris. The fibers form a large fleshy mass, which is attached to a strong aponeurosis, placed on the deep surface of the lower part of the muscle: this aponeurosis becomes contracted and thickened into a flat tendon inserted into the lateral border of the patella, blending with the Quadriceps femoris tendon, and giving an expansion to the capsule of the knee-joint. [WP,unvetted]." [Wikipedia:Vastus_lateralis]	225285	efo_slim,uberon_slim	efo_slim	uberon	1	EFO	hindlimb muscle	vastus lateralis
UBERON:0001384	\N	efo_slim,uberon_slim	"a brain region that in humans is located in the posterior portion of the frontal lobe. It works in association with pre-motor areas to plan and execute movements. M1 contains large neurons known as Betz cells which send long axons down the spinal cord to synapse onto alpha motor neurons which connect to the muscles. Pre-motor areas are involved in planning actions (in concert with the basal ganglia) and refining movements based upon sensory input (this requires the cerebellum). The human primary motor cortex is located in the dorsal part of the precentral gyrus and the anterior bank of the central sulcus. The precentral gyrus is in front of the postcentral gyrus from which it is separated by the central sulcus. Its anterior border is the precentral sulcus, while inferiorly it borders to the lateral fissure (Sylvian fissure). Medially, it is contiguous with the paracentral lobule." [Wikipedia:Primary_motor_cortex]	UBERON:0001384	"a brain region that in humans is located in the posterior portion of the frontal lobe. It works in association with pre-motor areas to plan and execute movements. M1 contains large neurons known as Betz cells which send long axons down the spinal cord to synapse onto alpha motor neurons which connect to the muscles. Pre-motor areas are involved in planning actions (in concert with the basal ganglia) and refining movements based upon sensory input (this requires the cerebellum). The human primary motor cortex is located in the dorsal part of the precentral gyrus and the anterior bank of the central sulcus. The precentral gyrus is in front of the postcentral gyrus from which it is separated by the central sulcus. Its anterior border is the precentral sulcus, while inferiorly it borders to the lateral fissure (Sylvian fissure). Medially, it is contiguous with the paracentral lobule." [Wikipedia:Primary_motor_cortex]	79696	\N	efo_slim,uberon_slim	uberon	0	EFO	primary motor cortex	primary motor cortex
UBERON:0000955	UBERON:0001384	efo_slim,uberon_slim	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	UBERON:0001384	"a brain region that in humans is located in the posterior portion of the frontal lobe. It works in association with pre-motor areas to plan and execute movements. M1 contains large neurons known as Betz cells which send long axons down the spinal cord to synapse onto alpha motor neurons which connect to the muscles. Pre-motor areas are involved in planning actions (in concert with the basal ganglia) and refining movements based upon sensory input (this requires the cerebellum). The human primary motor cortex is located in the dorsal part of the precentral gyrus and the anterior bank of the central sulcus. The precentral gyrus is in front of the postcentral gyrus from which it is separated by the central sulcus. Its anterior border is the precentral sulcus, while inferiorly it borders to the lateral fissure (Sylvian fissure). Medially, it is contiguous with the paracentral lobule." [Wikipedia:Primary_motor_cortex]	225286	efo_slim,uberon_slim	efo_slim,major_organ,uberon_slim,vertebrate_core	uberon	1	EFO	brain	primary motor cortex
UBERON:0001385	\N	efo_slim,uberon_slim	"In human anatomy, the tibialis anterior is a muscle that originates in the upper two-thirds of the lateral surface of the tibia and inserts into the medial cuneiform and first metatarsal bones of the foot. Its acts to invert the foot. It is situated on the lateral side of the tibia; it is thick and fleshy above, tendinous below. This muscle overlaps the anterior tibial vessels and deep peroneal nerve in the upper part of the leg. [WP,unvetted]. The M. tibialis cranialis is a muscle that flexes the tarsometatarsus. It originates on the craniodistal aspect of the femur and proximal tibiotarsus and inserts on the cranial surface of the tarsometarsus[EvoWiki]." [http://evolutionwiki.org/wiki/M._tibialis_cranialis, Wikipedia:Tibialis_anterior_muscle]	UBERON:0001385	"In human anatomy, the tibialis anterior is a muscle that originates in the upper two-thirds of the lateral surface of the tibia and inserts into the medial cuneiform and first metatarsal bones of the foot. Its acts to invert the foot. It is situated on the lateral side of the tibia; it is thick and fleshy above, tendinous below. This muscle overlaps the anterior tibial vessels and deep peroneal nerve in the upper part of the leg. [WP,unvetted]. The M. tibialis cranialis is a muscle that flexes the tarsometatarsus. It originates on the craniodistal aspect of the femur and proximal tibiotarsus and inserts on the cranial surface of the tarsometarsus[EvoWiki]." [http://evolutionwiki.org/wiki/M._tibialis_cranialis, Wikipedia:Tibialis_anterior_muscle]	79697	\N	efo_slim,uberon_slim	uberon	0	EFO	tibialis anterior	tibialis anterior
UBERON:0003663	UBERON:0001385	efo_slim,uberon_slim	"A muscle organ that is part of a hindlimb [Automatically generated definition]." [OBOL:automatic]	UBERON:0001385	"In human anatomy, the tibialis anterior is a muscle that originates in the upper two-thirds of the lateral surface of the tibia and inserts into the medial cuneiform and first metatarsal bones of the foot. Its acts to invert the foot. It is situated on the lateral side of the tibia; it is thick and fleshy above, tendinous below. This muscle overlaps the anterior tibial vessels and deep peroneal nerve in the upper part of the leg. [WP,unvetted]. The M. tibialis cranialis is a muscle that flexes the tarsometatarsus. It originates on the craniodistal aspect of the femur and proximal tibiotarsus and inserts on the cranial surface of the tarsometarsus[EvoWiki]." [http://evolutionwiki.org/wiki/M._tibialis_cranialis, Wikipedia:Tibialis_anterior_muscle]	225287	efo_slim,uberon_slim	efo_slim	uberon	1	EFO	hindlimb muscle	tibialis anterior
UBERON:0001388	\N	efo_slim,uberon_slim	"A muscle of the shank. In mammals it has two heads[Kardong]. It runs from its two heads just above the knee to the heel, and is involved in standing, walking, running and jumping. Along with the soleus muscle it forms the calf muscle. [WP]." [ISBN10:0073040584, Wikipedia:Gastrocnemius_muscle]	UBERON:0001388	"A muscle of the shank. In mammals it has two heads[Kardong]. It runs from its two heads just above the knee to the heel, and is involved in standing, walking, running and jumping. Along with the soleus muscle it forms the calf muscle. [WP]." [ISBN10:0073040584, Wikipedia:Gastrocnemius_muscle]	79698	\N	efo_slim,uberon_slim	uberon	0	EFO	gastrocnemius	gastrocnemius
UBERON:0003663	UBERON:0001388	efo_slim,uberon_slim	"A muscle organ that is part of a hindlimb [Automatically generated definition]." [OBOL:automatic]	UBERON:0001388	"A muscle of the shank. In mammals it has two heads[Kardong]. It runs from its two heads just above the knee to the heel, and is involved in standing, walking, running and jumping. Along with the soleus muscle it forms the calf muscle. [WP]." [ISBN10:0073040584, Wikipedia:Gastrocnemius_muscle]	225288	efo_slim,uberon_slim	efo_slim	uberon	1	EFO	hindlimb muscle	gastrocnemius
UBERON:0001389	\N	efo_slim,uberon_slim	"a powerful muscle in the back part of the lower leg (the calf). It runs from just below the knee to the heel, and is involved in standing and walking. It is closely connected to the gastrocnemius muscle and some anatomists consider them to be a single muscle, the triceps surae. Its name is derived from the solefish whose shape it resembles. The soleus is located in the superficial posterior compartment of the leg. Not all mammals have a soleus muscle; one familiar species that lacks the soleus is the dog." [Wikipedia:Soleus_muscle]	UBERON:0001389	"a powerful muscle in the back part of the lower leg (the calf). It runs from just below the knee to the heel, and is involved in standing and walking. It is closely connected to the gastrocnemius muscle and some anatomists consider them to be a single muscle, the triceps surae. Its name is derived from the solefish whose shape it resembles. The soleus is located in the superficial posterior compartment of the leg. Not all mammals have a soleus muscle; one familiar species that lacks the soleus is the dog." [Wikipedia:Soleus_muscle]	79699	\N	efo_slim,uberon_slim	uberon	0	EFO	soleus muscle	soleus muscle
UBERON:0003663	UBERON:0001389	efo_slim,uberon_slim	"A muscle organ that is part of a hindlimb [Automatically generated definition]." [OBOL:automatic]	UBERON:0001389	"a powerful muscle in the back part of the lower leg (the calf). It runs from just below the knee to the heel, and is involved in standing and walking. It is closely connected to the gastrocnemius muscle and some anatomists consider them to be a single muscle, the triceps surae. Its name is derived from the solefish whose shape it resembles. The soleus is located in the superficial posterior compartment of the leg. Not all mammals have a soleus muscle; one familiar species that lacks the soleus is the dog." [Wikipedia:Soleus_muscle]	225289	efo_slim,uberon_slim	efo_slim	uberon	1	EFO	hindlimb muscle	soleus muscle
UBERON:0001398	\N	efo_slim,uberon_slim	"The brachial artery is the major blood vessel of the (upper) arm. It is the continuation of the axillary artery beyond the lower margin of teres major muscle. It continues down the ventral surface of the arm until it reaches the cubital fossa at the elbow. It then divides into the radial and ulnar arteries which run down the forearm. In some individuals, the bifurcation occurs much earlier and the ulnar and radial arteries extend through the upper arm. The pulse of the brachial artery is palpable on the anterior aspect of the elbow, medial to the tendon of the biceps, and, with the use of a stethoscope and sphygmomanometer (blood pressure cuff) often used to measure the blood pressure. The brachial artery is closely related to the median nerve; in proximal regions, the median nerve is immediately lateral to the brachial artery. Distally, the median nerve crosses the medial side of the brachial artery and lies anterior to the elbow joint. [WP,unvetted]." [Wikipedia:Brachial_artery]	UBERON:0001398	"The brachial artery is the major blood vessel of the (upper) arm. It is the continuation of the axillary artery beyond the lower margin of teres major muscle. It continues down the ventral surface of the arm until it reaches the cubital fossa at the elbow. It then divides into the radial and ulnar arteries which run down the forearm. In some individuals, the bifurcation occurs much earlier and the ulnar and radial arteries extend through the upper arm. The pulse of the brachial artery is palpable on the anterior aspect of the elbow, medial to the tendon of the biceps, and, with the use of a stethoscope and sphygmomanometer (blood pressure cuff) often used to measure the blood pressure. The brachial artery is closely related to the median nerve; in proximal regions, the median nerve is immediately lateral to the brachial artery. Distally, the median nerve crosses the medial side of the brachial artery and lies anterior to the elbow joint. [WP,unvetted]." [Wikipedia:Brachial_artery]	79700	\N	efo_slim,uberon_slim	uberon	0	EFO	brachial artery	brachial artery
UBERON:0001637	UBERON:0001398	efo_slim,uberon_slim	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0001398	"The brachial artery is the major blood vessel of the (upper) arm. It is the continuation of the axillary artery beyond the lower margin of teres major muscle. It continues down the ventral surface of the arm until it reaches the cubital fossa at the elbow. It then divides into the radial and ulnar arteries which run down the forearm. In some individuals, the bifurcation occurs much earlier and the ulnar and radial arteries extend through the upper arm. The pulse of the brachial artery is palpable on the anterior aspect of the elbow, medial to the tendon of the biceps, and, with the use of a stethoscope and sphygmomanometer (blood pressure cuff) often used to measure the blood pressure. The brachial artery is closely related to the median nerve; in proximal regions, the median nerve is immediately lateral to the brachial artery. Distally, the median nerve crosses the medial side of the brachial artery and lies anterior to the elbow joint. [WP,unvetted]." [Wikipedia:Brachial_artery]	225290	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	brachial artery
UBERON:0001981	UBERON:0001637	efo_slim,uberon_slim	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0001398	"The brachial artery is the major blood vessel of the (upper) arm. It is the continuation of the axillary artery beyond the lower margin of teres major muscle. It continues down the ventral surface of the arm until it reaches the cubital fossa at the elbow. It then divides into the radial and ulnar arteries which run down the forearm. In some individuals, the bifurcation occurs much earlier and the ulnar and radial arteries extend through the upper arm. The pulse of the brachial artery is palpable on the anterior aspect of the elbow, medial to the tendon of the biceps, and, with the use of a stethoscope and sphygmomanometer (blood pressure cuff) often used to measure the blood pressure. The brachial artery is closely related to the median nerve; in proximal regions, the median nerve is immediately lateral to the brachial artery. Distally, the median nerve crosses the medial side of the brachial artery and lies anterior to the elbow joint. [WP,unvetted]." [Wikipedia:Brachial_artery]	582146	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	brachial artery
UBERON:0001415	\N	\N	"A zone of skin that is part of a pelvis [Automatically generated definition]." []	UBERON:0001415	"A zone of skin that is part of a pelvis [Automatically generated definition]." []	79702	\N	\N	uberon	0	EFO	skin of pelvis	skin of pelvis
EFO:0000787	\N	\N	"" []	UBERON:0001415	"A zone of skin that is part of a pelvis [Automatically generated definition]." []	196006	\N	\N	uberon	0	EFO	animal component	skin of pelvis
UBERON:0001434	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, VSAO:0000027]	UBERON:0001434	"Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, VSAO:0000027]	79704	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	skeletal system	skeletal system
UBERON:0000467	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0001434	"Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system." [GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070, VSAO:0000027]	196007	\N	\N	uberon	0	EFO	anatomical system	skeletal system
UBERON:0001443	\N	efo_slim,uberon_slim	"Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]." [FMA:9576, Wikipedia:Chest]	UBERON:0001443	"Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]." [FMA:9576, Wikipedia:Chest]	79705	\N	efo_slim,uberon_slim	uberon	0	EFO	chest	chest
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001443	"Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]." [FMA:9576, Wikipedia:Chest]	196008	\N	\N	uberon	0	EFO	animal component	chest
UBERON:0001446	\N	efo_slim,uberon_slim	"The major postaxial endochondral bone in the posterior zeugopod[Phenoscape]." [PHENOSCAPE:mah]	UBERON:0001446	"The major postaxial endochondral bone in the posterior zeugopod[Phenoscape]." [PHENOSCAPE:mah]	79706	\N	efo_slim,uberon_slim	uberon	0	EFO	fibula	fibula
UBERON:0003464	\N	efo_slim,uberon_slim	"The bones of the upper and lower LEG. They include the PELVIC BONES." []	UBERON:0001446	"The major postaxial endochondral bone in the posterior zeugopod[Phenoscape]." [PHENOSCAPE:mah]	196009	\N	\N	uberon	0	EFO	bone of lower extremity	fibula
UBERON:0001461	\N	efo_slim,uberon_slim	"The elbow is the region surrounding the elbow-jointthe ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]." [Wikipedia:Elbow]	UBERON:0001461	"The elbow is the region surrounding the elbow-jointthe ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]." [Wikipedia:Elbow]	79708	\N	efo_slim,uberon_slim	uberon	0	EFO	elbow	elbow
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001461	"The elbow is the region surrounding the elbow-jointthe ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]." [Wikipedia:Elbow]	196011	\N	\N	uberon	0	EFO	animal component	elbow
UBERON:0001465	\N	efo_slim,uberon_slim	"A segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod." [https://orcid.org/0000-0002-6601-2165]	UBERON:0001465	"A segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod." [https://orcid.org/0000-0002-6601-2165]	79710	\N	efo_slim,uberon_slim	uberon	0	EFO	knee	knee
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001465	"A segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod." [https://orcid.org/0000-0002-6601-2165]	196012	\N	\N	uberon	0	EFO	animal component	knee
UBERON:0001467	\N	efo_slim,uberon_slim	"In human anatomy, the shoulder joint comprises the part of the body where the humerus attaches to the scapula. The shoulder refers to the group of structures in the region of the joint. It is made up of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone) as well as associated muscles, ligaments and tendons. The articulations between the bones of the shoulder make up the shoulder joints. There are two kinds of cartilage in the joint. The first type is the white cartilage on the ends of the bones (called articular cartilage) which allows the bones to glide and move on each other. When this type of cartilage starts to wear out (a process called arthritis), the joint becomes painful and stiff. The labrum is a second kind of cartilage in the shoulder which is distinctly different from the articular cartilage. This cartilage is more fibrous or rigid than the cartilage on the ends of the ball and socket. Also, this cartilage is also found only around the socket where it is attached. The shoulder must be flexible for the wide range of motion required in the arms and hands and also strong enough to allow for actions such as lifting, pushing and pulling. The compromise between these two functions results in a large number of shoulder problems not faced by other joints such as the hip. [WP,unvetted]." [Wikipedia:Shoulder]	UBERON:0001467	"In human anatomy, the shoulder joint comprises the part of the body where the humerus attaches to the scapula. The shoulder refers to the group of structures in the region of the joint. It is made up of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone) as well as associated muscles, ligaments and tendons. The articulations between the bones of the shoulder make up the shoulder joints. There are two kinds of cartilage in the joint. The first type is the white cartilage on the ends of the bones (called articular cartilage) which allows the bones to glide and move on each other. When this type of cartilage starts to wear out (a process called arthritis), the joint becomes painful and stiff. The labrum is a second kind of cartilage in the shoulder which is distinctly different from the articular cartilage. This cartilage is more fibrous or rigid than the cartilage on the ends of the ball and socket. Also, this cartilage is also found only around the socket where it is attached. The shoulder must be flexible for the wide range of motion required in the arms and hands and also strong enough to allow for actions such as lifting, pushing and pulling. The compromise between these two functions results in a large number of shoulder problems not faced by other joints such as the hip. [WP,unvetted]." [Wikipedia:Shoulder]	79711	\N	efo_slim,uberon_slim	uberon	0	EFO	shoulder	shoulder
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001467	"In human anatomy, the shoulder joint comprises the part of the body where the humerus attaches to the scapula. The shoulder refers to the group of structures in the region of the joint. It is made up of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone) as well as associated muscles, ligaments and tendons. The articulations between the bones of the shoulder make up the shoulder joints. There are two kinds of cartilage in the joint. The first type is the white cartilage on the ends of the bones (called articular cartilage) which allows the bones to glide and move on each other. When this type of cartilage starts to wear out (a process called arthritis), the joint becomes painful and stiff. The labrum is a second kind of cartilage in the shoulder which is distinctly different from the articular cartilage. This cartilage is more fibrous or rigid than the cartilage on the ends of the ball and socket. Also, this cartilage is also found only around the socket where it is attached. The shoulder must be flexible for the wide range of motion required in the arms and hands and also strong enough to allow for actions such as lifting, pushing and pulling. The compromise between these two functions results in a large number of shoulder problems not faced by other joints such as the hip. [WP,unvetted]." [Wikipedia:Shoulder]	196013	\N	\N	uberon	0	EFO	animal component	shoulder
UBERON:0001473	\N	efo_slim,uberon_slim,vertebrate_core	"A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]." [BTO:0000752, Wikipedia:Lymphatic_vessel]	UBERON:0001473	"A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]." [BTO:0000752, Wikipedia:Lymphatic_vessel]	79712	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	lymphatic vessel	lymphatic vessel
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001473	"A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]." [BTO:0000752, Wikipedia:Lymphatic_vessel]	196014	\N	\N	uberon	0	EFO	animal component	lymphatic vessel
UBERON:0001476	\N	efo_slim,uberon_slim	"A muscle of shoulder which attaches to the scapula, clavicle and humerus.[FMA]" [Wikipedia:Deltoid_muscle]	UBERON:0001476	"A muscle of shoulder which attaches to the scapula, clavicle and humerus.[FMA]" [Wikipedia:Deltoid_muscle]	79714	\N	efo_slim,uberon_slim	uberon	0	EFO	deltoid	deltoid
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001476	"A muscle of shoulder which attaches to the scapula, clavicle and humerus.[FMA]" [Wikipedia:Deltoid_muscle]	196015	\N	\N	uberon	0	EFO	animal component	deltoid
UBERON:0001485	\N	efo_slim,uberon_slim	"The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation. Since in humans the knee supports nearly the whole weight of the body, it is the joint most vulnerable both to acute injury and the development of osteoarthritis. [WP,unvetted]." [Wikipedia:Knee]	UBERON:0001485	"The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation. Since in humans the knee supports nearly the whole weight of the body, it is the joint most vulnerable both to acute injury and the development of osteoarthritis. [WP,unvetted]." [Wikipedia:Knee]	79715	\N	efo_slim,uberon_slim	uberon	0	EFO	knee joint	knee joint
EFO:0003858	\N	efo_slim,uberon_slim	"" []	UBERON:0001485	"The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation. Since in humans the knee supports nearly the whole weight of the body, it is the joint most vulnerable both to acute injury and the development of osteoarthritis. [WP,unvetted]." [Wikipedia:Knee]	196016	\N	\N	uberon	0	EFO	skeleton structure	knee joint
UBERON:0001488	\N	efo_slim,uberon_slim	"A joint that connects the hindlimb autopod and zeugopod skeletons." [https://orcid.org/0000-0002-6601-2165, MESH:A02.835.583.378.062, Wikipedia:Ankle]	UBERON:0001488	"A joint that connects the hindlimb autopod and zeugopod skeletons." [https://orcid.org/0000-0002-6601-2165, MESH:A02.835.583.378.062, Wikipedia:Ankle]	79716	\N	efo_slim,uberon_slim	uberon	0	EFO	ankle joint	ankle joint
EFO:0003858	\N	efo_slim,uberon_slim	"" []	UBERON:0001488	"A joint that connects the hindlimb autopod and zeugopod skeletons." [https://orcid.org/0000-0002-6601-2165, MESH:A02.835.583.378.062, Wikipedia:Ankle]	196017	\N	\N	uberon	0	EFO	skeleton structure	ankle joint
UBERON:0001507	\N	pheno_slim,uberon_slim	"" []	UBERON:0001507	"" []	79718	\N	pheno_slim,uberon_slim	uberon	0	EFO	biceps brachii	biceps brachii
EFO:0000787	\N	pheno_slim,uberon_slim	"" []	UBERON:0001507	"" []	196018	\N	\N	uberon	0	EFO	animal component	biceps brachii
UBERON:0001515	\N	efo_slim,uberon_slim	"The thoracic aorta is contained in the posterior mediastinal cavity. It begins at the lower border of the fourth thoracic vertebra where it is continuous with the aortic arch, and ends in front of the lower border of the twelfth thoracic vertebra, at the aortic hiatus in the diaphragm where it becomes the abdominal aorta. At its commencement, it is situated on the left of the vertebral column; it approaches the median line as it descends; and, at its termination, lies directly in front of the column. The vessel describes a curve which is concave forward; as the branches given off from it are small, its diminution in size is insignificant. It has a radius of approximately 1.16 cm. [WP,unvetted]." [Wikipedia:Thoracic_aorta]	UBERON:0001515	"The thoracic aorta is contained in the posterior mediastinal cavity. It begins at the lower border of the fourth thoracic vertebra where it is continuous with the aortic arch, and ends in front of the lower border of the twelfth thoracic vertebra, at the aortic hiatus in the diaphragm where it becomes the abdominal aorta. At its commencement, it is situated on the left of the vertebral column; it approaches the median line as it descends; and, at its termination, lies directly in front of the column. The vessel describes a curve which is concave forward; as the branches given off from it are small, its diminution in size is insignificant. It has a radius of approximately 1.16 cm. [WP,unvetted]." [Wikipedia:Thoracic_aorta]	79719	\N	efo_slim,uberon_slim	uberon	0	EFO	thoracic aorta	thoracic aorta
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001515	"The thoracic aorta is contained in the posterior mediastinal cavity. It begins at the lower border of the fourth thoracic vertebra where it is continuous with the aortic arch, and ends in front of the lower border of the twelfth thoracic vertebra, at the aortic hiatus in the diaphragm where it becomes the abdominal aorta. At its commencement, it is situated on the left of the vertebral column; it approaches the median line as it descends; and, at its termination, lies directly in front of the column. The vessel describes a curve which is concave forward; as the branches given off from it are small, its diminution in size is insignificant. It has a radius of approximately 1.16 cm. [WP,unvetted]." [Wikipedia:Thoracic_aorta]	196019	\N	\N	uberon	0	EFO	animal component	thoracic aorta
UBERON:0001516	\N	efo_slim,uberon_slim	"Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]." [BTO:0002976, Wikipedia:Abdominal_aorta]	UBERON:0001516	"Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]." [BTO:0002976, Wikipedia:Abdominal_aorta]	79720	\N	efo_slim,uberon_slim	uberon	0	EFO	abdominal aorta	abdominal aorta
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001516	"Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]." [BTO:0002976, Wikipedia:Abdominal_aorta]	196020	\N	\N	uberon	0	EFO	animal component	abdominal aorta
UBERON:0001529	\N	efo_slim,uberon_slim	"The brachiocephalic artery (or brachiocephalic trunk or innominate artery) is an artery of the mediastinum that supplies blood to the right arm and the head and neck. It is the first branch of the aortic arch, and soon after it emerges, the brachiocephalic artery divides into the right common carotid artery and the right subclavian artery. There is no brachiocephalic artery for the left side of the body. The left common carotid, and the left subclavian artery, come directly off the aortic arch. However, there are two brachiocephalic veins. [WP,unvetted]." [Wikipedia:Brachiocephalic_artery]	UBERON:0001529	"The brachiocephalic artery (or brachiocephalic trunk or innominate artery) is an artery of the mediastinum that supplies blood to the right arm and the head and neck. It is the first branch of the aortic arch, and soon after it emerges, the brachiocephalic artery divides into the right common carotid artery and the right subclavian artery. There is no brachiocephalic artery for the left side of the body. The left common carotid, and the left subclavian artery, come directly off the aortic arch. However, there are two brachiocephalic veins. [WP,unvetted]." [Wikipedia:Brachiocephalic_artery]	79721	\N	efo_slim,uberon_slim	uberon	0	EFO	brachiocephalic artery	brachiocephalic artery
UBERON:0001637	UBERON:0001529	efo_slim,uberon_slim	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0001529	"The brachiocephalic artery (or brachiocephalic trunk or innominate artery) is an artery of the mediastinum that supplies blood to the right arm and the head and neck. It is the first branch of the aortic arch, and soon after it emerges, the brachiocephalic artery divides into the right common carotid artery and the right subclavian artery. There is no brachiocephalic artery for the left side of the body. The left common carotid, and the left subclavian artery, come directly off the aortic arch. However, there are two brachiocephalic veins. [WP,unvetted]." [Wikipedia:Brachiocephalic_artery]	225291	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	brachiocephalic artery
UBERON:0001981	UBERON:0001637	efo_slim,uberon_slim	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0001529	"The brachiocephalic artery (or brachiocephalic trunk or innominate artery) is an artery of the mediastinum that supplies blood to the right arm and the head and neck. It is the first branch of the aortic arch, and soon after it emerges, the brachiocephalic artery divides into the right common carotid artery and the right subclavian artery. There is no brachiocephalic artery for the left side of the body. The left common carotid, and the left subclavian artery, come directly off the aortic arch. However, there are two brachiocephalic veins. [WP,unvetted]." [Wikipedia:Brachiocephalic_artery]	582147	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	brachiocephalic artery
UBERON:0001532	\N	efo_slim,uberon_slim,vertebrate_core	"In human anatomy, the internal carotid artery is a major artery of the head and neck that helps supply blood to the brain. [WP,unvetted]." [Wikipedia:Internal_carotid_artery]	UBERON:0001532	"In human anatomy, the internal carotid artery is a major artery of the head and neck that helps supply blood to the brain. [WP,unvetted]." [Wikipedia:Internal_carotid_artery]	79722	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	internal carotid artery	internal carotid artery
UBERON:0001637	UBERON:0001532	efo_slim,uberon_slim,vertebrate_core	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0001532	"In human anatomy, the internal carotid artery is a major artery of the head and neck that helps supply blood to the brain. [WP,unvetted]." [Wikipedia:Internal_carotid_artery]	225292	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	internal carotid artery
UBERON:0001981	UBERON:0001637	efo_slim,uberon_slim,vertebrate_core	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0001532	"In human anatomy, the internal carotid artery is a major artery of the head and neck that helps supply blood to the brain. [WP,unvetted]." [Wikipedia:Internal_carotid_artery]	582148	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	internal carotid artery
UBERON:0001597	\N	efo_slim,uberon_slim	"jaw muscle of therapsids which permits the longitudinal, grinding, motions of the jaw.  The masseter is derived from the m. adductor mandibulae externus, which originates in the adductor chamber (in the temporal fenestra) and inserts on the coronoid process and internal surface of the lower jaw.[Palaeos]." [http://palaeos.com/vertebrates/glossary/glossaryM.html, Wikipedia:Masseter_muscle]	UBERON:0001597	"jaw muscle of therapsids which permits the longitudinal, grinding, motions of the jaw.  The masseter is derived from the m. adductor mandibulae externus, which originates in the adductor chamber (in the temporal fenestra) and inserts on the coronoid process and internal surface of the lower jaw.[Palaeos]." [http://palaeos.com/vertebrates/glossary/glossaryM.html, Wikipedia:Masseter_muscle]	79723	\N	efo_slim,uberon_slim	uberon	0	EFO	masseter muscle	masseter muscle
UBERON:0002376	UBERON:0001597	efo_slim,uberon_slim	"Any muscle that is part of a head[Automatically generated definition]." [OBOL:automatic]	UBERON:0001597	"jaw muscle of therapsids which permits the longitudinal, grinding, motions of the jaw.  The masseter is derived from the m. adductor mandibulae externus, which originates in the adductor chamber (in the temporal fenestra) and inserts on the coronoid process and internal surface of the lower jaw.[Palaeos]." [http://palaeos.com/vertebrates/glossary/glossaryM.html, Wikipedia:Masseter_muscle]	225293	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	muscle of head	masseter muscle
UBERON:0001601	\N	efo_slim,uberon_slim,vertebrate_core	"Skeletal muscle derived from cranial mesoderm and controls eye movements." [GO:0002074, Wikipedia:Extraocular_muscles]	UBERON:0001601	"Skeletal muscle derived from cranial mesoderm and controls eye movements." [GO:0002074, Wikipedia:Extraocular_muscles]	79724	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	extra-ocular muscle	extra-ocular muscle
UBERON:0002376	UBERON:0001601	efo_slim,uberon_slim,vertebrate_core	"Any muscle that is part of a head[Automatically generated definition]." [OBOL:automatic]	UBERON:0001601	"Skeletal muscle derived from cranial mesoderm and controls eye movements." [GO:0002074, Wikipedia:Extraocular_muscles]	225294	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	muscle of head	extra-ocular muscle
UBERON:0001621	\N	efo_slim,uberon_slim	"An artery that supplies the myocardium." [Wikipedia:Coronary_circulation#Coronary_anatomy]	UBERON:0001621	"An artery that supplies the myocardium." [Wikipedia:Coronary_circulation#Coronary_anatomy]	79725	\N	efo_slim,uberon_slim	uberon	0	EFO	coronary artery	coronary artery
EFO:0001955	\N	efo_slim,uberon_slim	"A heart component is an animal component that is part of some heart." []	UBERON:0001621	"An artery that supplies the myocardium." [Wikipedia:Coronary_circulation#Coronary_anatomy]	196021	\N	\N	uberon	0	EFO	heart component	coronary artery
UBERON:0001637	UBERON:0001621	efo_slim,uberon_slim	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0001621	"An artery that supplies the myocardium." [Wikipedia:Coronary_circulation#Coronary_anatomy]	225295	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	coronary artery
UBERON:0001981	UBERON:0001637	efo_slim,uberon_slim	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0001621	"An artery that supplies the myocardium." [Wikipedia:Coronary_circulation#Coronary_anatomy]	582149	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	coronary artery
UBERON:0001637	\N	efo_slim,uberon_slim,vertebrate_core	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0001637	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	79726	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	artery	artery
UBERON:0001981	UBERON:0001637	efo_slim,uberon_slim,vertebrate_core	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0001637	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	225296	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	blood vessel	artery
UBERON:0001638	\N	efo_slim,uberon_slim,vertebrate_core	"Any of the tubular branching vessels that carry blood from the capillaries toward the heart." [Wikipedia:Vein]	UBERON:0001638	"Any of the tubular branching vessels that carry blood from the capillaries toward the heart." [Wikipedia:Vein]	79727	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	vein	vein
UBERON:0001981	UBERON:0001638	efo_slim,uberon_slim,vertebrate_core	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0001638	"Any of the tubular branching vessels that carry blood from the capillaries toward the heart." [Wikipedia:Vein]	225297	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	blood vessel	vein
UBERON:0001645	\N	efo_slim,uberon_slim,vertebrate_core	"Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw)." [ISBN:0471209627, Wikipedia:Trigeminal_nerve]	UBERON:0001645	"Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw)." [ISBN:0471209627, Wikipedia:Trigeminal_nerve]	79728	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	trigeminal nerve	trigeminal nerve
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001645	"Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw)." [ISBN:0471209627, Wikipedia:Trigeminal_nerve]	196022	\N	\N	uberon	0	EFO	animal component	trigeminal nerve
UBERON:0001673	\N	efo_slim,uberon_slim	"The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted]." [Wikipedia:Central_retinal_vein]	UBERON:0001673	"The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted]." [Wikipedia:Central_retinal_vein]	79729	\N	efo_slim,uberon_slim	uberon	0	EFO	central retinal vein	central retinal vein
UBERON:0001638	UBERON:0001673	efo_slim,uberon_slim	"Any of the tubular branching vessels that carry blood from the capillaries toward the heart." [Wikipedia:Vein]	UBERON:0001673	"The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted]." [Wikipedia:Central_retinal_vein]	225298	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	vein	central retinal vein
UBERON:0001981	UBERON:0001638	efo_slim,uberon_slim	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0001673	"The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted]." [Wikipedia:Central_retinal_vein]	582150	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	central retinal vein
UBERON:0001675	\N	efo_slim,uberon_slim,vertebrate_core	"A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [Wikipedia:Trigeminal_ganglion, ZFIN:curator]	UBERON:0001675	"A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [Wikipedia:Trigeminal_ganglion, ZFIN:curator]	79730	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	trigeminal ganglion	trigeminal ganglion
UBERON:0001714	UBERON:0001675	efo_slim,uberon_slim,vertebrate_core	"Ganglion of a cranial nerve[cjm]." [Wikipedia:Cranial_nerve_ganglion]	UBERON:0001675	"A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [Wikipedia:Trigeminal_ganglion, ZFIN:curator]	225299	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	cranial ganglion	trigeminal ganglion
UBERON:0000045	UBERON:0001714	efo_slim,uberon_slim,vertebrate_core	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	UBERON:0001675	"A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [Wikipedia:Trigeminal_ganglion, ZFIN:curator]	582151	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	ganglion	trigeminal ganglion
UBERON:0001684	\N	efo_slim,uberon_slim	"A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton." [Wikipedia:Human_mandible, Wikipedia:Mandible]	UBERON:0001684	"A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton." [Wikipedia:Human_mandible, Wikipedia:Mandible]	79731	\N	efo_slim,uberon_slim	uberon	0	EFO	mandible	mandible
UBERON:0004742	UBERON:0001684	efo_slim,uberon_slim	"The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified]." [VHOG:0001022]	UBERON:0001684	"A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton." [Wikipedia:Human_mandible, Wikipedia:Mandible]	225300	efo_slim,uberon_slim	efo_slim	uberon	1	EFO	dentary	mandible
UBERON:0001690	\N	\N	"Sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals. [ GO:0042471 Ear ] " []	UBERON:0001690	"Sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals. [ GO:0042471 Ear ] " []	79732	\N	\N	uberon	0	EFO	ear	ear
UBERON:0001032	UBERON:0001690	\N	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	UBERON:0001690	"Sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals. [ GO:0042471 Ear ] " []	225301	\N	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	sensory system	ear
UBERON:0001691	\N	efo_slim,uberon_slim	"Part of the ear external to the tympanum (eardrum). It consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO]." [GO:0042473, Wikipedia:External_ear]	UBERON:0001691	"Part of the ear external to the tympanum (eardrum). It consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO]." [GO:0042473, Wikipedia:External_ear]	79733	\N	efo_slim,uberon_slim	uberon	0	EFO	external ear	external ear
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001691	"Part of the ear external to the tympanum (eardrum). It consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO]." [GO:0042473, Wikipedia:External_ear]	196023	\N	\N	uberon	0	EFO	animal component	external ear
UBERON:0001700	\N	efo_slim,uberon_slim,vertebrate_core	"The sensory ganglion of the facial nerve." []	UBERON:0001700	"The sensory ganglion of the facial nerve." []	79734	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	geniculate ganglion	geniculate ganglion
EFO:0003331	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001700	"The sensory ganglion of the facial nerve." []	196024	\N	\N	uberon	0	EFO	zebrafish component	geniculate ganglion
UBERON:0001714	UBERON:0001700	efo_slim,uberon_slim,vertebrate_core	"Ganglion of a cranial nerve[cjm]." [Wikipedia:Cranial_nerve_ganglion]	UBERON:0001700	"The sensory ganglion of the facial nerve." []	225302	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	cranial ganglion	geniculate ganglion
UBERON:0000045	UBERON:0001714	efo_slim,uberon_slim,vertebrate_core	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	UBERON:0001700	"The sensory ganglion of the facial nerve." []	582152	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	ganglion	geniculate ganglion
UBERON:0001705	\N	efo_slim,uberon_slim	"a horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]." [Wikipedia:Nail_(anatomy)]	UBERON:0001705	"a horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]." [Wikipedia:Nail_(anatomy)]	79735	\N	efo_slim,uberon_slim	uberon	0	EFO	nail	nail
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001705	"a horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]." [Wikipedia:Nail_(anatomy)]	196025	\N	\N	uberon	0	EFO	animal component	nail
UBERON:0001707	\N	pheno_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001707	"" []	79737	\N	pheno_slim,uberon_slim,vertebrate_core	uberon	0	EFO	nasal cavity	nasal cavity
EFO:0000787	\N	pheno_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001707	"" []	196026	\N	\N	uberon	0	EFO	animal component	nasal cavity
UBERON:0001714	\N	efo_slim,uberon_slim,vertebrate_core	"Ganglion of a cranial nerve[cjm]." [Wikipedia:Cranial_nerve_ganglion]	UBERON:0001714	"Ganglion of a cranial nerve[cjm]." [Wikipedia:Cranial_nerve_ganglion]	79739	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	cranial ganglion	cranial ganglion
UBERON:0000045	UBERON:0001714	efo_slim,uberon_slim,vertebrate_core	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	UBERON:0001714	"Ganglion of a cranial nerve[cjm]." [Wikipedia:Cranial_nerve_ganglion]	225303	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	ganglion	cranial ganglion
UBERON:0001715	\N	efo_slim,uberon_slim,vertebrate_core	"The fibers of the oculomotor nerve arise from a nucleus in the midbrain, which lies in the gray substance of the floor of the cerebral aqueduct and extends in front of the aqueduct for a short distance into the floor of the third ventricle. From this nucleus the fibers pass forward through the tegmentum, the red nucleus, and the medial part of the substantia nigra, forming a series of curves with a lateral convexity, and emerge from the oculomotor sulcus on the medial side of the cerebral peduncle. The nucleus of the oculomotor nerve does not consist of a continuous column of cells, but is broken up into a number of smaller nuclei, which are arranged in two groups, anterior and posterior. Those of the posterior group are six in number, five of which are symmetrical on the two sides of the middle line, while the sixth is centrally placed and is common to the nerves of both sides. The anterior group consists of two nuclei, an antero-medial and an antero-lateral . The nucleus of the oculomotor nerve, considered from a physiological standpoint, can be subdivided into several smaller groups of cells, each group controlling a particular muscle. A nearby nucleus, the Edinger-Westphal nucleus, is responsible for the autonomic functions of the oculomotor nerve, including pupillary constriction and lens accommodation. [WP,unvetted]." [Wikipedia:Nucleus_of_oculomotor_nerve]	UBERON:0001715	"The fibers of the oculomotor nerve arise from a nucleus in the midbrain, which lies in the gray substance of the floor of the cerebral aqueduct and extends in front of the aqueduct for a short distance into the floor of the third ventricle. From this nucleus the fibers pass forward through the tegmentum, the red nucleus, and the medial part of the substantia nigra, forming a series of curves with a lateral convexity, and emerge from the oculomotor sulcus on the medial side of the cerebral peduncle. The nucleus of the oculomotor nerve does not consist of a continuous column of cells, but is broken up into a number of smaller nuclei, which are arranged in two groups, anterior and posterior. Those of the posterior group are six in number, five of which are symmetrical on the two sides of the middle line, while the sixth is centrally placed and is common to the nerves of both sides. The anterior group consists of two nuclei, an antero-medial and an antero-lateral . The nucleus of the oculomotor nerve, considered from a physiological standpoint, can be subdivided into several smaller groups of cells, each group controlling a particular muscle. A nearby nucleus, the Edinger-Westphal nucleus, is responsible for the autonomic functions of the oculomotor nerve, including pupillary constriction and lens accommodation. [WP,unvetted]." [Wikipedia:Nucleus_of_oculomotor_nerve]	79740	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	oculomotor nuclear complex	oculomotor nuclear complex
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001715	"The fibers of the oculomotor nerve arise from a nucleus in the midbrain, which lies in the gray substance of the floor of the cerebral aqueduct and extends in front of the aqueduct for a short distance into the floor of the third ventricle. From this nucleus the fibers pass forward through the tegmentum, the red nucleus, and the medial part of the substantia nigra, forming a series of curves with a lateral convexity, and emerge from the oculomotor sulcus on the medial side of the cerebral peduncle. The nucleus of the oculomotor nerve does not consist of a continuous column of cells, but is broken up into a number of smaller nuclei, which are arranged in two groups, anterior and posterior. Those of the posterior group are six in number, five of which are symmetrical on the two sides of the middle line, while the sixth is centrally placed and is common to the nerves of both sides. The anterior group consists of two nuclei, an antero-medial and an antero-lateral . The nucleus of the oculomotor nerve, considered from a physiological standpoint, can be subdivided into several smaller groups of cells, each group controlling a particular muscle. A nearby nucleus, the Edinger-Westphal nucleus, is responsible for the autonomic functions of the oculomotor nerve, including pupillary constriction and lens accommodation. [WP,unvetted]." [Wikipedia:Nucleus_of_oculomotor_nerve]	196027	\N	\N	uberon	0	EFO	animal component	oculomotor nuclear complex
UBERON:0001723	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"A muscular organ in the floor of the mouth." [FEED:rd]	UBERON:0001723	"A muscular organ in the floor of the mouth." [FEED:rd]	79741	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	tongue	tongue
UBERON:0001033	UBERON:0001723	efo_slim,organ_slim,uberon_slim,vertebrate_core	"Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception of taste (GO:0050912)'." []	UBERON:0001723	"A muscular organ in the floor of the mouth." [FEED:rd]	225304	efo_slim,organ_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	gustatory system	tongue
UBERON:0001032	UBERON:0001033	efo_slim,organ_slim,uberon_slim,vertebrate_core	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	UBERON:0001723	"A muscular organ in the floor of the mouth." [FEED:rd]	582153	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	sensory system	tongue
UBERON:0001728	\N	pheno_slim,uberon_slim	"the section of the pharynx that lies above the soft palate" [MP:0002251]	UBERON:0001728	"the section of the pharynx that lies above the soft palate" [MP:0002251]	79742	\N	pheno_slim,uberon_slim	uberon	0	EFO	nasopharynx	nasopharynx
EFO:0000787	\N	pheno_slim,uberon_slim	"" []	UBERON:0001728	"the section of the pharynx that lies above the soft palate" [MP:0002251]	196028	\N	\N	uberon	0	EFO	animal component	nasopharynx
UBERON:0001729	\N	efo_slim,uberon_slim	"The Oropharynx (oral part of the pharynx) reaches from the Uvula to the level of the hyoid bone. It opens anteriorly, through the isthmus faucium, into the mouth, while in its lateral wall, between the two palatine arches, is the palatine tonsil. [WP,unvetted]." [Wikipedia:Oropharynx]	UBERON:0001729	"The Oropharynx (oral part of the pharynx) reaches from the Uvula to the level of the hyoid bone. It opens anteriorly, through the isthmus faucium, into the mouth, while in its lateral wall, between the two palatine arches, is the palatine tonsil. [WP,unvetted]." [Wikipedia:Oropharynx]	79743	\N	efo_slim,uberon_slim	uberon	0	EFO	oropharynx	oropharynx
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001729	"The Oropharynx (oral part of the pharynx) reaches from the Uvula to the level of the hyoid bone. It opens anteriorly, through the isthmus faucium, into the mouth, while in its lateral wall, between the two palatine arches, is the palatine tonsil. [WP,unvetted]." [Wikipedia:Oropharynx]	196029	\N	\N	uberon	0	EFO	animal component	oropharynx
UBERON:0001734	\N	efo_slim,uberon_slim	"Conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers. The uvula, hanging from the end of the soft palate, is responsible for the sound of snoring. Touching the uvula or the end of the soft palate evokes a strong gag reflex in most people." [Wikipedia:Palatine_uvula]	UBERON:0001734	"Conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers. The uvula, hanging from the end of the soft palate, is responsible for the sound of snoring. Touching the uvula or the end of the soft palate evokes a strong gag reflex in most people." [Wikipedia:Palatine_uvula]	79744	\N	efo_slim,uberon_slim	uberon	0	EFO	uvula	uvula
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001734	"Conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers. The uvula, hanging from the end of the soft palate, is responsible for the sound of snoring. Touching the uvula or the end of the soft palate evokes a strong gag reflex in most people." [Wikipedia:Palatine_uvula]	196030	\N	\N	uberon	0	EFO	animal component	uvula
UBERON:0001736	\N	efo_slim,uberon_slim	"The paired submandibular glands (submaxillary glands) are salivary glands located beneath the floor of the mouth. In humans, they account for 70% of the salivary volume and weigh about 15 grams. [WP,unvetted]." [Wikipedia:Submandibular_gland]	UBERON:0001736	"The paired submandibular glands (submaxillary glands) are salivary glands located beneath the floor of the mouth. In humans, they account for 70% of the salivary volume and weigh about 15 grams. [WP,unvetted]." [Wikipedia:Submandibular_gland]	79745	\N	efo_slim,uberon_slim	uberon	0	EFO	submandibular gland	submandibular gland
UBERON:0002530	UBERON:0001736	efo_slim,uberon_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0001736	"The paired submandibular glands (submaxillary glands) are salivary glands located beneath the floor of the mouth. In humans, they account for 70% of the salivary volume and weigh about 15 grams. [WP,unvetted]." [Wikipedia:Submandibular_gland]	225305	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	gland	submandibular gland
UBERON:0001737	\N	efo_slim,uberon_slim	"Heterogeneous cluster that connects the pharynx to the tracheobronchial tree[FMA]." [FMA:55097, Wikipedia:Larynx]	UBERON:0001737	"Heterogeneous cluster that connects the pharynx to the tracheobronchial tree[FMA]." [FMA:55097, Wikipedia:Larynx]	79746	\N	efo_slim,uberon_slim	uberon	0	EFO	larynx	larynx
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001737	"Heterogeneous cluster that connects the pharynx to the tracheobronchial tree[FMA]." [FMA:55097, Wikipedia:Larynx]	196031	\N	\N	uberon	0	EFO	animal component	larynx
UBERON:0001759	\N	efo_slim,uberon_slim,vertebrate_core	"Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart)." [ISBN:0471209627, Wikipedia:Vagus_nerve]	UBERON:0001759	"Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart)." [ISBN:0471209627, Wikipedia:Vagus_nerve]	79748	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	vagus nerve	vagus nerve
UBERON:0001033	UBERON:0001759	efo_slim,uberon_slim,vertebrate_core	"Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception of taste (GO:0050912)'." []	UBERON:0001759	"Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart)." [ISBN:0471209627, Wikipedia:Vagus_nerve]	225306	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	gustatory system	vagus nerve
UBERON:0001032	UBERON:0001033	efo_slim,uberon_slim,vertebrate_core	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	UBERON:0001759	"Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart)." [ISBN:0471209627, Wikipedia:Vagus_nerve]	582154	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	sensory system	vagus nerve
UBERON:0001769	\N	efo_slim,uberon_slim,vertebrate_core	"a membrane in the eye, responsible for controlling the amount of light reaching the retina. The iris consists of pigmented fibrovascular tissue known as a stroma. It is the most forward portion of the eye and the only one seen on superficial inspection. The stroma connects a sphincter muscle (sphincter pupillae), which contracts the pupil, and a set of dilator muscles (dilator pupillae) which open it. The back surface is covered by a heavily pigmented epithelial layer two cells thick (the iris pigment epithelium), but the front surface has no epithelium. The high pigment content blocks light from passing through the iris and restricts it to the pupil. The outer edge of the iris, known as the root, is attached to the sclera and the anterior ciliary body. The iris and ciliary body together are known as the anterior uvea. Just in front of the root of the iris is the region through which the aqueous humour constantly drains out of the eye, with the result that diseases of the iris often have important effects on intraocular pressure, and indirectly on vision. Depending on the amount of light, the iris makes the pupil larger or smaller." [Wikipedia:Iris_(anatomy)]	UBERON:0001769	"a membrane in the eye, responsible for controlling the amount of light reaching the retina. The iris consists of pigmented fibrovascular tissue known as a stroma. It is the most forward portion of the eye and the only one seen on superficial inspection. The stroma connects a sphincter muscle (sphincter pupillae), which contracts the pupil, and a set of dilator muscles (dilator pupillae) which open it. The back surface is covered by a heavily pigmented epithelial layer two cells thick (the iris pigment epithelium), but the front surface has no epithelium. The high pigment content blocks light from passing through the iris and restricts it to the pupil. The outer edge of the iris, known as the root, is attached to the sclera and the anterior ciliary body. The iris and ciliary body together are known as the anterior uvea. Just in front of the root of the iris is the region through which the aqueous humour constantly drains out of the eye, with the result that diseases of the iris often have important effects on intraocular pressure, and indirectly on vision. Depending on the amount of light, the iris makes the pupil larger or smaller." [Wikipedia:Iris_(anatomy)]	79749	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	iris	iris
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001769	"a membrane in the eye, responsible for controlling the amount of light reaching the retina. The iris consists of pigmented fibrovascular tissue known as a stroma. It is the most forward portion of the eye and the only one seen on superficial inspection. The stroma connects a sphincter muscle (sphincter pupillae), which contracts the pupil, and a set of dilator muscles (dilator pupillae) which open it. The back surface is covered by a heavily pigmented epithelial layer two cells thick (the iris pigment epithelium), but the front surface has no epithelium. The high pigment content blocks light from passing through the iris and restricts it to the pupil. The outer edge of the iris, known as the root, is attached to the sclera and the anterior ciliary body. The iris and ciliary body together are known as the anterior uvea. Just in front of the root of the iris is the region through which the aqueous humour constantly drains out of the eye, with the result that diseases of the iris often have important effects on intraocular pressure, and indirectly on vision. Depending on the amount of light, the iris makes the pupil larger or smaller." [Wikipedia:Iris_(anatomy)]	196032	\N	\N	uberon	0	EFO	animal component	iris
UBERON:0001772	\N	efo_slim,uberon_slim,vertebrate_core	"The corneal epithelium (epithelium corne anterior layer) is made up of epithelial tissue and covers the front of the cornea. It consists of several layers of cells. The cells of the deepest layer are columnar; then follow two or three layers of polyhedral cells, the majority of which are prickle cells similar to those found in the stratum mucosum of the cuticle. Lastly, there are three or four layers of squamous cells, with flattened nuclei. [WP,unvetted]." [Wikipedia:Corneal_epithelium]	UBERON:0001772	"The corneal epithelium (epithelium corne anterior layer) is made up of epithelial tissue and covers the front of the cornea. It consists of several layers of cells. The cells of the deepest layer are columnar; then follow two or three layers of polyhedral cells, the majority of which are prickle cells similar to those found in the stratum mucosum of the cuticle. Lastly, there are three or four layers of squamous cells, with flattened nuclei. [WP,unvetted]." [Wikipedia:Corneal_epithelium]	79750	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	corneal epithelium	corneal epithelium
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001772	"The corneal epithelium (epithelium corne anterior layer) is made up of epithelial tissue and covers the front of the cornea. It consists of several layers of cells. The cells of the deepest layer are columnar; then follow two or three layers of polyhedral cells, the majority of which are prickle cells similar to those found in the stratum mucosum of the cuticle. Lastly, there are three or four layers of squamous cells, with flattened nuclei. [WP,unvetted]." [Wikipedia:Corneal_epithelium]	196033	\N	\N	uberon	0	EFO	animal component	corneal epithelium
UBERON:0001783	\N	efo_slim,uberon_slim	"The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called 'the blind spot' or the 'physiological blind spot'. The optic nerve head in a normal human eye carries from 1 to 1.2 million neurons from the eye towards the brain. [WP,unvetted]." [Wikipedia:Optic_disc]	UBERON:0001783	"The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called 'the blind spot' or the 'physiological blind spot'. The optic nerve head in a normal human eye carries from 1 to 1.2 million neurons from the eye towards the brain. [WP,unvetted]." [Wikipedia:Optic_disc]	79753	\N	efo_slim,uberon_slim	uberon	0	EFO	optic disc	optic disc
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001783	"The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called 'the blind spot' or the 'physiological blind spot'. The optic nerve head in a normal human eye carries from 1 to 1.2 million neurons from the eye towards the brain. [WP,unvetted]." [Wikipedia:Optic_disc]	196035	\N	\N	uberon	0	EFO	animal component	optic disc
UBERON:0001811	\N	efo_slim,uberon_slim	"The conjunctiva is a clear mucous membrane consisting of cells and underlying basement membrane that covers the sclera (white part of the eye) and lines the inside of the eyelids. It is made of epithelial tissue. [WP,unvetted]." [Wikipedia:Conjunctiva]	UBERON:0001811	"The conjunctiva is a clear mucous membrane consisting of cells and underlying basement membrane that covers the sclera (white part of the eye) and lines the inside of the eyelids. It is made of epithelial tissue. [WP,unvetted]." [Wikipedia:Conjunctiva]	79754	\N	efo_slim,uberon_slim	uberon	0	EFO	conjunctiva	conjunctiva
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001811	"The conjunctiva is a clear mucous membrane consisting of cells and underlying basement membrane that covers the sclera (white part of the eye) and lines the inside of the eyelids. It is made of epithelial tissue. [WP,unvetted]." [Wikipedia:Conjunctiva]	196036	\N	\N	uberon	0	EFO	animal component	conjunctiva
UBERON:0001817	\N	efo_slim,organ_slim,uberon_slim	"Lobular organ the parenchyma of which consists of glandular acini which communicate the lacrimal sac. Examples: There only two instances, right lacrimal and left lacrimal glands[FMA]. The lacrimal glands are paired almond-shaped glands, one for each eye, that secrete the aqueous layer of the tear film. They are situated in the upper, outer portion of each orbit. Inflammation of the lacrimal glands is called dacryoadenitis[WP]." [Wikipedia:Lacrimal_gland]	UBERON:0001817	"Lobular organ the parenchyma of which consists of glandular acini which communicate the lacrimal sac. Examples: There only two instances, right lacrimal and left lacrimal glands[FMA]. The lacrimal glands are paired almond-shaped glands, one for each eye, that secrete the aqueous layer of the tear film. They are situated in the upper, outer portion of each orbit. Inflammation of the lacrimal glands is called dacryoadenitis[WP]." [Wikipedia:Lacrimal_gland]	79755	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	lacrimal gland	lacrimal gland
UBERON:0002530	UBERON:0001817	efo_slim,organ_slim,uberon_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0001817	"Lobular organ the parenchyma of which consists of glandular acini which communicate the lacrimal sac. Examples: There only two instances, right lacrimal and left lacrimal glands[FMA]. The lacrimal glands are paired almond-shaped glands, one for each eye, that secrete the aqueous layer of the tear film. They are situated in the upper, outer portion of each orbit. Inflammation of the lacrimal glands is called dacryoadenitis[WP]." [Wikipedia:Lacrimal_gland]	225307	efo_slim,organ_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	gland	lacrimal gland
UBERON:0001820	\N	organ_slim,pheno_slim,uberon_slim	"any of the coil glands of the skin that secrete sweat" []	UBERON:0001820	"any of the coil glands of the skin that secrete sweat" []	79756	\N	organ_slim,pheno_slim,uberon_slim	uberon	0	EFO	sweat gland	sweat gland
UBERON:0002530	UBERON:0001820	organ_slim,pheno_slim,uberon_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0001820	"any of the coil glands of the skin that secrete sweat" []	225308	organ_slim,pheno_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	gland	sweat gland
UBERON:0001828	\N	efo_slim,uberon_slim	"The tissue that surrounds the necks of teeth and covers the alveolar parts of the jaws; broadly: the alveolar portion of a jaw with its enveloping soft tissues." []	UBERON:0001828	"The tissue that surrounds the necks of teeth and covers the alveolar parts of the jaws; broadly: the alveolar portion of a jaw with its enveloping soft tissues." []	79757	\N	efo_slim,uberon_slim	uberon	0	EFO	gingiva	gingiva
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001828	"The tissue that surrounds the necks of teeth and covers the alveolar parts of the jaws; broadly: the alveolar portion of a jaw with its enveloping soft tissues." []	196037	\N	\N	uberon	0	EFO	animal component	gingiva
UBERON:0001830	\N	\N	"One of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands[MP]. " []	UBERON:0001830	"One of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands[MP]. " []	79758	\N	\N	uberon	0	EFO	minor salivary gland	minor salivary gland
UBERON:0001044	UBERON:0001830	\N	"saliva-secreting exocrine glands of the oral cavity[GO]. The salivary glands in mammals are exocrine glands, glands with ducts, that produce saliva. They also secrete amylase, an enzyme that breaks down starch into maltose. In other organisms such as insects, salivary glands are often used to produce biologically important proteins like silk or glues, and fly salivary glands contain polytene chromosomes that have been useful in genetic research[WP]." [GO:0007431, Wikipedia:Salivary_gland]	UBERON:0001830	"One of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands[MP]. " []	225309	\N	efo_slim,functional_classification,organ_slim,uberon_slim	uberon	1	EFO	saliva-secreting gland	minor salivary gland
UBERON:0002530	UBERON:0001044	\N	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0001830	"One of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands[MP]. " []	582155	efo_slim,functional_classification,organ_slim,uberon_slim	efo_slim,uberon_slim	uberon	2	EFO	gland	minor salivary gland
UBERON:0001831	\N	efo_slim,uberon_slim	"The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]." [Wikipedia:Parotid_gland]	UBERON:0001831	"The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]." [Wikipedia:Parotid_gland]	79759	\N	efo_slim,uberon_slim	uberon	0	EFO	parotid gland	parotid gland
UBERON:0002530	UBERON:0001831	efo_slim,uberon_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0001831	"The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]." [Wikipedia:Parotid_gland]	225310	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	gland	parotid gland
UBERON:0001844	\N	efo_slim,uberon_slim,vertebrate_core	"The cochlea is the auditory portion of the inner ear. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. The name is from the Latin for snail, which is from the Greek kokhlias 'snail, screw,' from kokhlos 'spiral shell,' in reference to its coiled shape; the cochlea is coiled in most mammals, monotremes being the exceptions. [WP,unvetted]." [Wikipedia:Cochlea]	UBERON:0001844	"The cochlea is the auditory portion of the inner ear. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. The name is from the Latin for snail, which is from the Greek kokhlias 'snail, screw,' from kokhlos 'spiral shell,' in reference to its coiled shape; the cochlea is coiled in most mammals, monotremes being the exceptions. [WP,unvetted]." [Wikipedia:Cochlea]	79761	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	cochlea	cochlea
EFO:0003858	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001844	"The cochlea is the auditory portion of the inner ear. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. The name is from the Latin for snail, which is from the Greek kokhlias 'snail, screw,' from kokhlos 'spiral shell,' in reference to its coiled shape; the cochlea is coiled in most mammals, monotremes being the exceptions. [WP,unvetted]." [Wikipedia:Cochlea]	196038	\N	\N	uberon	0	EFO	skeleton structure	cochlea
UBERON:0001846	UBERON:0001844	efo_slim,uberon_slim,vertebrate_core	"The essential organ of hearing and equilibrium that is located in the temporal bone, is innervated by the auditory nerve, and includes the vestibule, the semicircular canals, and the cochlea." []	UBERON:0001844	"The cochlea is the auditory portion of the inner ear. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. The name is from the Latin for snail, which is from the Greek kokhlias 'snail, screw,' from kokhlos 'spiral shell,' in reference to its coiled shape; the cochlea is coiled in most mammals, monotremes being the exceptions. [WP,unvetted]." [Wikipedia:Cochlea]	225311	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	internal ear	cochlea
UBERON:0001690	UBERON:0001846	efo_slim,uberon_slim,vertebrate_core	"Sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals. [ GO:0042471 Ear ] " []	UBERON:0001844	"The cochlea is the auditory portion of the inner ear. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. The name is from the Latin for snail, which is from the Greek kokhlias 'snail, screw,' from kokhlos 'spiral shell,' in reference to its coiled shape; the cochlea is coiled in most mammals, monotremes being the exceptions. [WP,unvetted]." [Wikipedia:Cochlea]	582156	efo_slim,uberon_slim,vertebrate_core	\N	uberon	2	EFO	ear	cochlea
UBERON:0001032	UBERON:0001690	efo_slim,uberon_slim,vertebrate_core	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	UBERON:0001844	"The cochlea is the auditory portion of the inner ear. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. The name is from the Latin for snail, which is from the Greek kokhlias 'snail, screw,' from kokhlos 'spiral shell,' in reference to its coiled shape; the cochlea is coiled in most mammals, monotremes being the exceptions. [WP,unvetted]." [Wikipedia:Cochlea]	1166130	\N	efo_slim,uberon_slim,vertebrate_core	uberon	3	EFO	sensory system	cochlea
UBERON:0001846	\N	efo_slim,uberon_slim,vertebrate_core	"The essential organ of hearing and equilibrium that is located in the temporal bone, is innervated by the auditory nerve, and includes the vestibule, the semicircular canals, and the cochlea." []	UBERON:0001846	"The essential organ of hearing and equilibrium that is located in the temporal bone, is innervated by the auditory nerve, and includes the vestibule, the semicircular canals, and the cochlea." []	79762	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	internal ear	internal ear
UBERON:0001690	UBERON:0001846	efo_slim,uberon_slim,vertebrate_core	"Sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals. [ GO:0042471 Ear ] " []	UBERON:0001846	"The essential organ of hearing and equilibrium that is located in the temporal bone, is innervated by the auditory nerve, and includes the vestibule, the semicircular canals, and the cochlea." []	225312	efo_slim,uberon_slim,vertebrate_core	\N	uberon	1	EFO	ear	internal ear
UBERON:0001032	UBERON:0001690	efo_slim,uberon_slim,vertebrate_core	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	UBERON:0001846	"The essential organ of hearing and equilibrium that is located in the temporal bone, is innervated by the auditory nerve, and includes the vestibule, the semicircular canals, and the cochlea." []	582157	\N	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	sensory system	internal ear
UBERON:0001869	\N	efo_slim,uberon_slim	"One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA]" [FMA:FMA, Wikipedia:Cerebral_hemisphere]	UBERON:0001869	"One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA]" [FMA:FMA, Wikipedia:Cerebral_hemisphere]	79763	\N	efo_slim,uberon_slim	uberon	0	EFO	cerebral hemisphere	cerebral hemisphere
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001869	"One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA]" [FMA:FMA, Wikipedia:Cerebral_hemisphere]	196039	\N	\N	uberon	0	EFO	animal component	cerebral hemisphere
UBERON:0001870	\N	efo_slim,uberon_slim	"Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border." [Wikipedia:Frontal_lobe]	UBERON:0001870	"Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border." [Wikipedia:Frontal_lobe]	79764	\N	efo_slim,uberon_slim	uberon	0	EFO	frontal cortex	frontal cortex
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001870	"Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border." [Wikipedia:Frontal_lobe]	196040	\N	\N	uberon	0	EFO	animal component	frontal cortex
UBERON:0001871	\N	efo_slim,uberon_slim	"Temporal lobe is the ventrolateral lobe of five lobes comprising each cerebral hemisphere. It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe." [Wikipedia:Temporal_lobe]	UBERON:0001871	"Temporal lobe is the ventrolateral lobe of five lobes comprising each cerebral hemisphere. It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe." [Wikipedia:Temporal_lobe]	79765	\N	efo_slim,uberon_slim	uberon	0	EFO	temporal lobe	temporal lobe
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001871	"Temporal lobe is the ventrolateral lobe of five lobes comprising each cerebral hemisphere. It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe." [Wikipedia:Temporal_lobe]	196041	\N	\N	uberon	0	EFO	animal component	temporal lobe
UBERON:0001872	\N	efo_slim,uberon_slim	"Parietal lobe is the one of five lobes of the cerebral hemisphere which occupies the dorsal-posterior portion of the hemisphere. It is bounded by the central sulcus on its anterior border and and by the longitudinal cerebral fissure on its medial border. Posteriorly it shares an arbitrary border with the occipital lobe." [Wikipedia:Parietal_lobe]	UBERON:0001872	"Parietal lobe is the one of five lobes of the cerebral hemisphere which occupies the dorsal-posterior portion of the hemisphere. It is bounded by the central sulcus on its anterior border and and by the longitudinal cerebral fissure on its medial border. Posteriorly it shares an arbitrary border with the occipital lobe." [Wikipedia:Parietal_lobe]	79766	\N	efo_slim,uberon_slim	uberon	0	EFO	parietal lobe	parietal lobe
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001872	"Parietal lobe is the one of five lobes of the cerebral hemisphere which occupies the dorsal-posterior portion of the hemisphere. It is bounded by the central sulcus on its anterior border and and by the longitudinal cerebral fissure on its medial border. Posteriorly it shares an arbitrary border with the occipital lobe." [Wikipedia:Parietal_lobe]	196042	\N	\N	uberon	0	EFO	animal component	parietal lobe
UBERON:0001873	\N	efo_slim,uberon_slim	"Nucleus of brain which is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent." [Wikipedia:Caudate_nucleus]	UBERON:0001873	"Nucleus of brain which is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent." [Wikipedia:Caudate_nucleus]	79767	\N	efo_slim,uberon_slim	uberon	0	EFO	caudate nucleus	caudate nucleus
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001873	"Nucleus of brain which is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent." [Wikipedia:Caudate_nucleus]	196043	\N	\N	uberon	0	EFO	animal component	caudate nucleus
UBERON:0001874	\N	uberon_slim	"Subcortical nucleus of telencephalic , which together with the caudate nucleus, forms the striatum. The putamen lies lateral to the internal capsule and medial to the external medullary lamina, and is separated from the caudate nucleus by the fibers of the internal capsule for most of its length, except at its anterior portion." []	UBERON:0001874	"Subcortical nucleus of telencephalic , which together with the caudate nucleus, forms the striatum. The putamen lies lateral to the internal capsule and medial to the external medullary lamina, and is separated from the caudate nucleus by the fibers of the internal capsule for most of its length, except at its anterior portion." []	79768	\N	uberon_slim	uberon	0	EFO	putamen	putamen
EFO:0000787	\N	uberon_slim	"" []	UBERON:0001874	"Subcortical nucleus of telencephalic , which together with the caudate nucleus, forms the striatum. The putamen lies lateral to the internal capsule and medial to the external medullary lamina, and is separated from the caudate nucleus by the fibers of the internal capsule for most of its length, except at its anterior portion." []	196044	\N	\N	uberon	0	EFO	animal component	putamen
UBERON:0001875	\N	efo_slim,uberon_slim	"Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates.  In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle[NIF]. Nucleus of brain which is located medially to the putamen and laterally to the internal capsule[FMA]." [FMA:61835, NIF_GrossAnatomy:birnlex_1234, Wikipedia:Globus_pallidus]	UBERON:0001875	"Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates.  In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle[NIF]. Nucleus of brain which is located medially to the putamen and laterally to the internal capsule[FMA]." [FMA:61835, NIF_GrossAnatomy:birnlex_1234, Wikipedia:Globus_pallidus]	79769	\N	efo_slim,uberon_slim	uberon	0	EFO	globus pallidus	globus pallidus
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001875	"Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates.  In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle[NIF]. Nucleus of brain which is located medially to the putamen and laterally to the internal capsule[FMA]." [FMA:61835, NIF_GrossAnatomy:birnlex_1234, Wikipedia:Globus_pallidus]	196045	\N	\N	uberon	0	EFO	animal component	globus pallidus
UBERON:0001876	\N	efo_slim,uberon_slim	"Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe[FMA]" [FMA:61841, Wikipedia:Amygdala]	UBERON:0001876	"Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe[FMA]" [FMA:61841, Wikipedia:Amygdala]	79770	\N	efo_slim,uberon_slim	uberon	0	EFO	amygdala	amygdala
UBERON:0002420	UBERON:0001876	efo_slim,uberon_slim	"one of a group of nuclei in the brains of vertebrates, situated at the base of the forebrain and strongly connected with the cerebral cortex, thalamus and other areas.ganglion in the head. The main components of the basal ganglia are the striatum, pallidum, substantia nigra, and subthalamic nucleus[WP]. Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum[NIF]." [Wikipedia:Basal_ganglia]	UBERON:0001876	"Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe[FMA]" [FMA:61841, Wikipedia:Amygdala]	225313	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	basal ganglion	amygdala
UBERON:0001880	\N	efo_slim	"A brain structure in the forebrain wrapped around the stria terminalis. It's largest extent can be found around the crossing of the anterior commissure[INCF]." [INCF:Seattle_mtg_2010, Wikipedia:Stria_terminalis#Bed_nucleus_of_the_stria_terminalis]	UBERON:0001880	"A brain structure in the forebrain wrapped around the stria terminalis. It's largest extent can be found around the crossing of the anterior commissure[INCF]." [INCF:Seattle_mtg_2010, Wikipedia:Stria_terminalis#Bed_nucleus_of_the_stria_terminalis]	79771	\N	efo_slim	uberon	0	EFO	bed nucleus of stria terminalis	bed nucleus of stria terminalis
UBERON:0000955	UBERON:0001880	efo_slim	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	UBERON:0001880	"A brain structure in the forebrain wrapped around the stria terminalis. It's largest extent can be found around the crossing of the anterior commissure[INCF]." [INCF:Seattle_mtg_2010, Wikipedia:Stria_terminalis#Bed_nucleus_of_the_stria_terminalis]	225314	efo_slim	efo_slim,major_organ,uberon_slim,vertebrate_core	uberon	1	EFO	brain	bed nucleus of stria terminalis
UBERON:0001882	\N	efo_slim,uberon_slim	"a collection of pleomorphic cells in the caudal part of the anterior horn of the lateral ventricle, in the region of the olfactory tubercle, lying between the head of the caudate nucleus and the anterior perforated substance. It is part of the ventral striatum, a composite structure considered part of the basal ganglia[GO]." [GO:0021768, Wikipedia:Nucleus_accumbens]	UBERON:0001882	"a collection of pleomorphic cells in the caudal part of the anterior horn of the lateral ventricle, in the region of the olfactory tubercle, lying between the head of the caudate nucleus and the anterior perforated substance. It is part of the ventral striatum, a composite structure considered part of the basal ganglia[GO]." [GO:0021768, Wikipedia:Nucleus_accumbens]	79772	\N	efo_slim,uberon_slim	uberon	0	EFO	nucleus accumbens	nucleus accumbens
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001882	"a collection of pleomorphic cells in the caudal part of the anterior horn of the lateral ventricle, in the region of the olfactory tubercle, lying between the head of the caudate nucleus and the anterior perforated substance. It is part of the ventral striatum, a composite structure considered part of the basal ganglia[GO]." [GO:0021768, Wikipedia:Nucleus_accumbens]	196046	\N	\N	uberon	0	EFO	animal component	nucleus accumbens
UBERON:0001886	\N	efo_slim,uberon_slim,vertebrate_core	"A network formed by blood vessels and the tela choroidea which secretes CSF into the ventricular spaces." [ISBN10:0471888893, Wikipedia:Choroid_plexus]	UBERON:0001886	"A network formed by blood vessels and the tela choroidea which secretes CSF into the ventricular spaces." [ISBN10:0471888893, Wikipedia:Choroid_plexus]	79774	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	choroid plexus	choroid plexus
UBERON:0005284	UBERON:0001886	efo_slim,uberon_slim,vertebrate_core	"A vasculature that is part of a brain [Automatically generated definition]." [OBOL:automatic]	UBERON:0001886	"A network formed by blood vessels and the tela choroidea which secretes CSF into the ventricular spaces." [ISBN10:0471888893, Wikipedia:Choroid_plexus]	225315	efo_slim,uberon_slim,vertebrate_core	efo_slim,vertebrate_core	uberon	1	EFO	brain vasculature	choroid plexus
UBERON:0001890	\N	efo_slim,uberon_slim,vertebrate_core	"The most anterior region the brain including both the telencephalon and diencephalon." [Wikipedia:Forebrain, ZFIN:ZDB-PUB-961014-576]	UBERON:0001890	"The most anterior region the brain including both the telencephalon and diencephalon." [Wikipedia:Forebrain, ZFIN:ZDB-PUB-961014-576]	79775	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	forebrain	forebrain
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001890	"The most anterior region the brain including both the telencephalon and diencephalon." [Wikipedia:Forebrain, ZFIN:ZDB-PUB-961014-576]	196048	\N	\N	uberon	0	EFO	animal component	forebrain
UBERON:0001891	\N	efo_slim,uberon_slim,vertebrate_core	"Organ component of neuraxis that has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct[FMA]. The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally[ZFA]. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]." [FMA:61993, GO:0030901, Wikipedia:Midbrain, ZFIN:curator]	UBERON:0001891	"Organ component of neuraxis that has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct[FMA]. The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally[ZFA]. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]." [FMA:61993, GO:0030901, Wikipedia:Midbrain, ZFIN:curator]	79776	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	midbrain	midbrain
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001891	"Organ component of neuraxis that has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct[FMA]. The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally[ZFA]. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]." [FMA:61993, GO:0030901, Wikipedia:Midbrain, ZFIN:curator]	196049	\N	\N	uberon	0	EFO	animal component	midbrain
UBERON:0001892	\N	efo_slim,uberon_slim,vertebrate_core	"A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]." [Wikipedia:Rhombomere, ZFIN:curator]	UBERON:0001892	"A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]." [Wikipedia:Rhombomere, ZFIN:curator]	79777	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	rhombomere	rhombomere
EFO:0003331	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001892	"A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]." [Wikipedia:Rhombomere, ZFIN:curator]	196050	\N	\N	uberon	0	EFO	zebrafish component	rhombomere
UBERON:0002050	UBERON:0001892	efo_slim,uberon_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0001892	"A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]." [Wikipedia:Rhombomere, ZFIN:curator]	225316	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	rhombomere
UBERON:0001893	\N	efo_slim,uberon_slim,vertebrate_core	"Organ component of neuraxis that has as its parts the cerebral cortex, cerebral white matter, basal ganglia, septum and fornix, as well as subcortical gray and white matter structures[FMA]." [FMA:62000, Wikipedia:Telencephalon]	UBERON:0001893	"Organ component of neuraxis that has as its parts the cerebral cortex, cerebral white matter, basal ganglia, septum and fornix, as well as subcortical gray and white matter structures[FMA]." [FMA:62000, Wikipedia:Telencephalon]	79778	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	telencephalon	telencephalon
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001893	"Organ component of neuraxis that has as its parts the cerebral cortex, cerebral white matter, basal ganglia, septum and fornix, as well as subcortical gray and white matter structures[FMA]." [FMA:62000, Wikipedia:Telencephalon]	196051	\N	\N	uberon	0	EFO	animal component	telencephalon
UBERON:0001894	\N	efo_slim,uberon_slim,vertebrate_core	"Organ component of neuraxis that has as its parts the epithalamus, thalamus, hypothalamus, subthalamus[FMA]. The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [FMA:62001, Wikipedia:Diencephalon, ZFIN:curator]	UBERON:0001894	"Organ component of neuraxis that has as its parts the epithalamus, thalamus, hypothalamus, subthalamus[FMA]. The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [FMA:62001, Wikipedia:Diencephalon, ZFIN:curator]	79779	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	diencephalon	diencephalon
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001894	"Organ component of neuraxis that has as its parts the epithalamus, thalamus, hypothalamus, subthalamus[FMA]. The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [FMA:62001, Wikipedia:Diencephalon, ZFIN:curator]	196052	\N	\N	uberon	0	EFO	animal component	diencephalon
UBERON:0001896	\N	efo_slim,uberon_slim,vertebrate_core	"Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]." [FMA:62004, GO:0021550, Wikipedia:Bone_marrow_of_ovary_oblongata]	UBERON:0001896	"Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]." [FMA:62004, GO:0021550, Wikipedia:Bone_marrow_of_ovary_oblongata]	79780	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	medulla oblongata	medulla oblongata
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001896	"Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]." [FMA:62004, GO:0021550, Wikipedia:Bone_marrow_of_ovary_oblongata]	196053	\N	\N	uberon	0	EFO	animal component	medulla oblongata
UBERON:0001897	\N	efo_slim,uberon_slim,vertebrate_core	"Subcortical brain region consisting of paired gray matter bodies in the dorsal diencephalon and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups.(MeSH). The dorsal topographic division of the interbrain. The macrodissected adult human thalamus was clearly illustrated by Vesalius in 1543 and the term as defined here was introduced by His in 1893. It includes the traditional epithalamus, dorsal thalamus, and ventral thalamus of Herrick (1910, pp. 494, 498). Also see Kuhlenbeck (1927, Ch. 9) and Jones (1985, p. 87). [ NIFSTD:birnlex_954 ]" [Wikipedia:Thalamus]	UBERON:0001897	"Subcortical brain region consisting of paired gray matter bodies in the dorsal diencephalon and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups.(MeSH). The dorsal topographic division of the interbrain. The macrodissected adult human thalamus was clearly illustrated by Vesalius in 1543 and the term as defined here was introduced by His in 1893. It includes the traditional epithalamus, dorsal thalamus, and ventral thalamus of Herrick (1910, pp. 494, 498). Also see Kuhlenbeck (1927, Ch. 9) and Jones (1985, p. 87). [ NIFSTD:birnlex_954 ]" [Wikipedia:Thalamus]	79781	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	dorsal plus ventral thalamus	dorsal plus ventral thalamus
UBERON:0001016	UBERON:0001897	efo_slim,uberon_slim,vertebrate_core	"a network of specialized cells that communicate information about an organism's surroundings and itself[Wikipedia]." [ISBN:0-14-051288-8, ISBN:3110148986, NLM:nervous+system, WB:rynl, Wikipedia:Nervous_system, ZFIN:curator]	UBERON:0001897	"Subcortical brain region consisting of paired gray matter bodies in the dorsal diencephalon and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups.(MeSH). The dorsal topographic division of the interbrain. The macrodissected adult human thalamus was clearly illustrated by Vesalius in 1543 and the term as defined here was introduced by His in 1893. It includes the traditional epithalamus, dorsal thalamus, and ventral thalamus of Herrick (1910, pp. 494, 498). Also see Kuhlenbeck (1927, Ch. 9) and Jones (1985, p. 87). [ NIFSTD:birnlex_954 ]" [Wikipedia:Thalamus]	225317	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	nervous system	dorsal plus ventral thalamus
UBERON:0001898	\N	efo_slim,uberon_slim,vertebrate_core	"A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia]." [Wikipedia:Hypothalamus, ZFIN:curator]	UBERON:0001898	"A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia]." [Wikipedia:Hypothalamus, ZFIN:curator]	79782	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	hypothalamus	hypothalamus
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001898	"A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia]." [Wikipedia:Hypothalamus, ZFIN:curator]	196054	\N	\N	uberon	0	EFO	animal component	hypothalamus
UBERON:0001899	\N	efo_slim,uberon_slim,vertebrate_core	"The epithalamus is the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle[GO]. a dorsal posterior segment of the diencephalon (a segment in the middle of the brain also containing the hypothalamus and the thalamus) which includes the habenula, the stria medullaris and the pineal body. Its function is the connection between the limbic system to other parts of the brain[WP] Some functions of its components include the secretion of melatonin by the pineal gland." [Wikipedia:Epithalamus]	UBERON:0001899	"The epithalamus is the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle[GO]. a dorsal posterior segment of the diencephalon (a segment in the middle of the brain also containing the hypothalamus and the thalamus) which includes the habenula, the stria medullaris and the pineal body. Its function is the connection between the limbic system to other parts of the brain[WP] Some functions of its components include the secretion of melatonin by the pineal gland." [Wikipedia:Epithalamus]	79783	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	epithalamus	epithalamus
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001899	"The epithalamus is the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle[GO]. a dorsal posterior segment of the diencephalon (a segment in the middle of the brain also containing the hypothalamus and the thalamus) which includes the habenula, the stria medullaris and the pineal body. Its function is the connection between the limbic system to other parts of the brain[WP] Some functions of its components include the secretion of melatonin by the pineal gland." [Wikipedia:Epithalamus]	196055	\N	\N	uberon	0	EFO	animal component	epithalamus
UBERON:0001902	\N	vertebrate_core	"\\nAn epithelium that is part of a small intestine [Automatically generated definition].\\n" []	UBERON:0001902	"\\nAn epithelium that is part of a small intestine [Automatically generated definition].\\n" []	79784	\N	vertebrate_core	uberon	0	EFO	epithelium of small intestine	epithelium of small intestine
UBERON:0000483	\N	vertebrate_core	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	UBERON:0001902	"\\nAn epithelium that is part of a small intestine [Automatically generated definition].\\n" []	196056	\N	\N	uberon	0	EFO	epithelium	epithelium of small intestine
UBERON:0001905	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"The pineal body is an unpaired glandular organ subdivision shaped somewhat like a pine cone. It is attached on the midline near the posterior and habenular commissures of the epithalamus." [Wikipedia:Pineal_gland]	UBERON:0001905	"The pineal body is an unpaired glandular organ subdivision shaped somewhat like a pine cone. It is attached on the midline near the posterior and habenular commissures of the epithalamus." [Wikipedia:Pineal_gland]	79785	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	pineal body	pineal body
UBERON:6007435	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0001905	"The pineal body is an unpaired glandular organ subdivision shaped somewhat like a pine cone. It is attached on the midline near the posterior and habenular commissures of the epithalamus." [Wikipedia:Pineal_gland]	196057	\N	\N	uberon	0	EFO	endocrine system component	pineal body
UBERON:0002530	UBERON:0001905	efo_slim,organ_slim,uberon_slim,vertebrate_core	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0001905	"The pineal body is an unpaired glandular organ subdivision shaped somewhat like a pine cone. It is attached on the midline near the posterior and habenular commissures of the epithalamus." [Wikipedia:Pineal_gland]	225318	efo_slim,organ_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim	uberon	1	EFO	gland	pineal body
UBERON:0001906	\N	efo_slim,uberon_slim	"The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO]." [Wikipedia:Subthalamic_nucleus]	UBERON:0001906	"The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO]." [Wikipedia:Subthalamic_nucleus]	79786	\N	efo_slim,uberon_slim	uberon	0	EFO	subthalamic nucleus	subthalamic nucleus
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001906	"The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO]." [Wikipedia:Subthalamic_nucleus]	196058	\N	\N	uberon	0	EFO	animal component	subthalamic nucleus
UBERON:0001911	\N	efo_slim,organ_slim,uberon_slim	"The specialized accessory gland of the skin of female mammals that secretes milk. In the human female, it is a compound tubuloalveolar gland composed of 15 to 25 lobes arranged radially about the nipple and separated by connective and adipose tissue, each lobe having its own excretory (lactiferous) duct opening on the nipple. The lobes are subdivided into lobules, with the alveolar ducts and alveoli being the secretory portion of the gland[BTO]. The mouse forms five to six pairs of mammary glands that extend from the neck to the groin." [BTO:0000817, Wikipedia:Mammary_gland]	UBERON:0001911	"The specialized accessory gland of the skin of female mammals that secretes milk. In the human female, it is a compound tubuloalveolar gland composed of 15 to 25 lobes arranged radially about the nipple and separated by connective and adipose tissue, each lobe having its own excretory (lactiferous) duct opening on the nipple. The lobes are subdivided into lobules, with the alveolar ducts and alveoli being the secretory portion of the gland[BTO]. The mouse forms five to six pairs of mammary glands that extend from the neck to the groin." [BTO:0000817, Wikipedia:Mammary_gland]	79787	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	mammary gland	mammary gland
UBERON:0002530	UBERON:0001911	efo_slim,organ_slim,uberon_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0001911	"The specialized accessory gland of the skin of female mammals that secretes milk. In the human female, it is a compound tubuloalveolar gland composed of 15 to 25 lobes arranged radially about the nipple and separated by connective and adipose tissue, each lobe having its own excretory (lactiferous) duct opening on the nipple. The lobes are subdivided into lobules, with the alveolar ducts and alveoli being the secretory portion of the gland[BTO]. The mouse forms five to six pairs of mammary glands that extend from the neck to the groin." [BTO:0000817, Wikipedia:Mammary_gland]	225319	efo_slim,organ_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	gland	mammary gland
UBERON:0001926	\N	efo_slim,uberon_slim	"The lateral geniculate nucleus is the primary processor of visual information received from the retina[GO]." [Wikipedia:Lateral_geniculate_body]	UBERON:0001926	"The lateral geniculate nucleus is the primary processor of visual information received from the retina[GO]." [Wikipedia:Lateral_geniculate_body]	79788	\N	efo_slim,uberon_slim	uberon	0	EFO	lateral geniculate body	lateral geniculate body
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001926	"The lateral geniculate nucleus is the primary processor of visual information received from the retina[GO]." [Wikipedia:Lateral_geniculate_body]	196059	\N	\N	uberon	0	EFO	animal component	lateral geniculate body
UBERON:0001927	\N	efo_slim,uberon_slim	"The Medial Geniculate Nucleus (MGN) or Medial Geniculate Body (MGB) is part of the auditory thalamus and represents the thalamic relay between the inferior colliculus (IC) and the auditory cortex (AC). It is made up of a number of sub-nuclei that are distinguished by their neuronal morphology and density, by their afferent and efferent connections, and by the coding properties of their neurons. It is thought that the MGB influences the direction and maintenance of attention. [WP,unvetted]." [Wikipedia:Medial_geniculate_body]	UBERON:0001927	"The Medial Geniculate Nucleus (MGN) or Medial Geniculate Body (MGB) is part of the auditory thalamus and represents the thalamic relay between the inferior colliculus (IC) and the auditory cortex (AC). It is made up of a number of sub-nuclei that are distinguished by their neuronal morphology and density, by their afferent and efferent connections, and by the coding properties of their neurons. It is thought that the MGB influences the direction and maintenance of attention. [WP,unvetted]." [Wikipedia:Medial_geniculate_body]	79789	\N	efo_slim,uberon_slim	uberon	0	EFO	medial geniculate body	medial geniculate body
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001927	"The Medial Geniculate Nucleus (MGN) or Medial Geniculate Body (MGB) is part of the auditory thalamus and represents the thalamic relay between the inferior colliculus (IC) and the auditory cortex (AC). It is made up of a number of sub-nuclei that are distinguished by their neuronal morphology and density, by their afferent and efferent connections, and by the coding properties of their neurons. It is thought that the MGB influences the direction and maintenance of attention. [WP,unvetted]." [Wikipedia:Medial_geniculate_body]	196060	\N	\N	uberon	0	EFO	animal component	medial geniculate body
UBERON:0001928	\N	efo_slim,uberon_slim,vertebrate_core	"Area of the forebrain anterior to the posterior tuberculum and the hypothalamus and ventral to the ventral thalamus[ZFA]." [Wikipedia:Preoptic_area, ZFIN:curator]	UBERON:0001928	"Area of the forebrain anterior to the posterior tuberculum and the hypothalamus and ventral to the ventral thalamus[ZFA]." [Wikipedia:Preoptic_area, ZFIN:curator]	79790	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	preoptic area	preoptic area
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001928	"Area of the forebrain anterior to the posterior tuberculum and the hypothalamus and ventral to the ventral thalamus[ZFA]." [Wikipedia:Preoptic_area, ZFIN:curator]	196061	\N	\N	uberon	0	EFO	animal component	preoptic area
UBERON:0001929	\N	efo_slim,uberon_slim	"The supraoptic nucleus (SON) is a nucleus of magnocellular neurosecretory cells in the hypothalamus of the mammalian brain. The nucleus is situated at the base of the brain, adjacent to the optic chiasm. In humans, it contains about 3,000 neurons. [WP,unvetted]." [https://sourceforge.net/tracker/?func=detail&aid=3474225&group_id=76834&atid=1205376, Wikipedia:Supraoptic_nucleus]	UBERON:0001929	"The supraoptic nucleus (SON) is a nucleus of magnocellular neurosecretory cells in the hypothalamus of the mammalian brain. The nucleus is situated at the base of the brain, adjacent to the optic chiasm. In humans, it contains about 3,000 neurons. [WP,unvetted]." [https://sourceforge.net/tracker/?func=detail&aid=3474225&group_id=76834&atid=1205376, Wikipedia:Supraoptic_nucleus]	79791	\N	efo_slim,uberon_slim	uberon	0	EFO	supraoptic nucleus	supraoptic nucleus
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001929	"The supraoptic nucleus (SON) is a nucleus of magnocellular neurosecretory cells in the hypothalamus of the mammalian brain. The nucleus is situated at the base of the brain, adjacent to the optic chiasm. In humans, it contains about 3,000 neurons. [WP,unvetted]." [https://sourceforge.net/tracker/?func=detail&aid=3474225&group_id=76834&atid=1205376, Wikipedia:Supraoptic_nucleus]	196062	\N	\N	uberon	0	EFO	animal component	supraoptic nucleus
UBERON:0001945	\N	efo_slim,uberon_slim,vertebrate_core	"Part of the midbrain tectum consisting of paired bodies that sit caudal to the thalamus and surround the pineal gland in the mesencephalon of vertebrate brains. It comprises the rostral aspect of the midbrain, posterior to the periaqueductal gray and adjacent superior the inferior colliculus. The inferior and superior colliculi are known collectively as the corpora quadrigemina (Latin, quadruplet bodies). It consists of several identified cellular layers and also comprises the brachium of the superior colliculus and commissure of superior colliculus [Wikipedia.org and Neuronames (MM)]." [NIF_GrossAnatomy:birnlex_1040, Wikipedia:Superior_colliculus]	UBERON:0001945	"Part of the midbrain tectum consisting of paired bodies that sit caudal to the thalamus and surround the pineal gland in the mesencephalon of vertebrate brains. It comprises the rostral aspect of the midbrain, posterior to the periaqueductal gray and adjacent superior the inferior colliculus. The inferior and superior colliculi are known collectively as the corpora quadrigemina (Latin, quadruplet bodies). It consists of several identified cellular layers and also comprises the brachium of the superior colliculus and commissure of superior colliculus [Wikipedia.org and Neuronames (MM)]." [NIF_GrossAnatomy:birnlex_1040, Wikipedia:Superior_colliculus]	79793	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	superior colliculus	superior colliculus
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001945	"Part of the midbrain tectum consisting of paired bodies that sit caudal to the thalamus and surround the pineal gland in the mesencephalon of vertebrate brains. It comprises the rostral aspect of the midbrain, posterior to the periaqueductal gray and adjacent superior the inferior colliculus. The inferior and superior colliculi are known collectively as the corpora quadrigemina (Latin, quadruplet bodies). It consists of several identified cellular layers and also comprises the brachium of the superior colliculus and commissure of superior colliculus [Wikipedia.org and Neuronames (MM)]." [NIF_GrossAnatomy:birnlex_1040, Wikipedia:Superior_colliculus]	196064	\N	\N	uberon	0	EFO	animal component	superior colliculus
UBERON:0001946	\N	efo_slim,uberon_slim	"The inferior colliculi together with the superior colliculi form the eminences of the corpora quadrigemina, and also part of the tectal region of the midbrain. The inferior colliculus lies caudal to its counterpart - the superior colliculus - above the trochlear nerve, and at the base of the projection of the medial geniculate nucleus (MGN) and the lateral geniculate nucleus (LGN). The inferior colliculus is the principal midbrain nucleus of the auditory pathway and receives input from several more peripheral brainstem nuclei in the auditory pathway, as well as inputs from the auditory cortex. The inferior colliculus has three subnuclei. [WP,unvetted]." [Wikipedia:Inferior_colliculus]	UBERON:0001946	"The inferior colliculi together with the superior colliculi form the eminences of the corpora quadrigemina, and also part of the tectal region of the midbrain. The inferior colliculus lies caudal to its counterpart - the superior colliculus - above the trochlear nerve, and at the base of the projection of the medial geniculate nucleus (MGN) and the lateral geniculate nucleus (LGN). The inferior colliculus is the principal midbrain nucleus of the auditory pathway and receives input from several more peripheral brainstem nuclei in the auditory pathway, as well as inputs from the auditory cortex. The inferior colliculus has three subnuclei. [WP,unvetted]." [Wikipedia:Inferior_colliculus]	79794	\N	efo_slim,uberon_slim	uberon	0	EFO	inferior colliculus	inferior colliculus
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001946	"The inferior colliculi together with the superior colliculi form the eminences of the corpora quadrigemina, and also part of the tectal region of the midbrain. The inferior colliculus lies caudal to its counterpart - the superior colliculus - above the trochlear nerve, and at the base of the projection of the medial geniculate nucleus (MGN) and the lateral geniculate nucleus (LGN). The inferior colliculus is the principal midbrain nucleus of the auditory pathway and receives input from several more peripheral brainstem nuclei in the auditory pathway, as well as inputs from the auditory cortex. The inferior colliculus has three subnuclei. [WP,unvetted]." [Wikipedia:Inferior_colliculus]	196065	\N	\N	uberon	0	EFO	animal component	inferior colliculus
UBERON:0001969	\N	efo_slim,uberon_slim	"Body substance in liquid state contained in the lumen of arterial and venous trees, blood capillary and the cardiac chambers; constitutes the liquid phase of blood.[FMA]" [FMA:FMA, Wikipedia:Blood_plasma]	UBERON:0001969	"Body substance in liquid state contained in the lumen of arterial and venous trees, blood capillary and the cardiac chambers; constitutes the liquid phase of blood.[FMA]" [FMA:FMA, Wikipedia:Blood_plasma]	79797	\N	efo_slim,uberon_slim	uberon	0	EFO	blood plasma	blood plasma
EFO:0001941	\N	efo_slim,uberon_slim	"" []	UBERON:0001969	"Body substance in liquid state contained in the lumen of arterial and venous trees, blood capillary and the cardiac chambers; constitutes the liquid phase of blood.[FMA]" [FMA:FMA, Wikipedia:Blood_plasma]	196066	\N	\N	uberon	0	EFO	blood component	blood plasma
UBERON:0001970	\N	uberon_slim	"\\na bitter-tasting, dark green to yellowish brown fluid, produced by the liver of most vertebrates, that aids the process of digestion of lipids in the small intestine. In many species, bile is stored in the gallbladder and upon eating is discharged into the duodenum. Bile is a composition of the following materials: water (85%), bile salts (10%), mucus and pigments (3%), fats (1%), inorganic salts (0.7%) and cholesterol (0.3%)[WP].\\n" []	UBERON:0001970	"\\na bitter-tasting, dark green to yellowish brown fluid, produced by the liver of most vertebrates, that aids the process of digestion of lipids in the small intestine. In many species, bile is stored in the gallbladder and upon eating is discharged into the duodenum. Bile is a composition of the following materials: water (85%), bile salts (10%), mucus and pigments (3%), fats (1%), inorganic salts (0.7%) and cholesterol (0.3%)[WP].\\n" []	79798	\N	uberon_slim	uberon	0	EFO	bile	bile
UBERON:0006314	\N	uberon_slim	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	UBERON:0001970	"\\na bitter-tasting, dark green to yellowish brown fluid, produced by the liver of most vertebrates, that aids the process of digestion of lipids in the small intestine. In many species, bile is stored in the gallbladder and upon eating is discharged into the duodenum. Bile is a composition of the following materials: water (85%), bile salts (10%), mucus and pigments (3%), fats (1%), inorganic salts (0.7%) and cholesterol (0.3%)[WP].\\n" []	196067	\N	\N	uberon	0	EFO	bodily fluid	bile
UBERON:0001981	\N	efo_slim,uberon_slim,vertebrate_core	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0001981	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	79800	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	blood vessel	blood vessel
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001981	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	196068	\N	\N	uberon	0	EFO	animal component	blood vessel
UBERON:0001982	\N	efo_slim,uberon_slim,vertebrate_core	"Any of the smallest blood vessels connecting arterioles with venules." [ISBN10:0073040584, Wikipedia:Capillary]	UBERON:0001982	"Any of the smallest blood vessels connecting arterioles with venules." [ISBN10:0073040584, Wikipedia:Capillary]	79801	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	capillary	capillary
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0001982	"Any of the smallest blood vessels connecting arterioles with venules." [ISBN10:0073040584, Wikipedia:Capillary]	196069	\N	\N	uberon	0	EFO	animal component	capillary
UBERON:0001986	\N	efo_slim,uberon_slim	"A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]" [FMA:63916, MESH:A10.272.491]	UBERON:0001986	"A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]" [FMA:63916, MESH:A10.272.491]	79802	\N	efo_slim,uberon_slim	uberon	0	EFO	endothelium	endothelium
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0001986	"A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]" [FMA:63916, MESH:A10.272.491]	196070	\N	\N	uberon	0	EFO	animal component	endothelium
UBERON:0001987	\N	efo_slim,organ_slim,uberon_slim	"organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion.  The maternal portion is known as the decidua basalis.  The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell." [http://www.med.umich.edu/lrc/coursepages/m1/embryology/embryo/06placenta.htm, Wikipedia:Placenta]	UBERON:0001987	"organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion.  The maternal portion is known as the decidua basalis.  The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell." [http://www.med.umich.edu/lrc/coursepages/m1/embryology/embryo/06placenta.htm, Wikipedia:Placenta]	79803	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	placenta	placenta
EFO:0000787	\N	efo_slim,organ_slim,uberon_slim	"" []	UBERON:0001987	"organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion.  The maternal portion is known as the decidua basalis.  The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell." [http://www.med.umich.edu/lrc/coursepages/m1/embryology/embryo/06placenta.htm, Wikipedia:Placenta]	196071	\N	\N	uberon	0	EFO	animal component	placenta
UBERON:0001989	\N	efo_slim,uberon_slim,vertebrate_core	"Trunk ganglion which is bilaterally paired and located at the anterior end of the sympathetic ganglion chain." [Wikipedia:Superior_cervical_ganglion, ZFIN:curator]	UBERON:0001989	"Trunk ganglion which is bilaterally paired and located at the anterior end of the sympathetic ganglion chain." [Wikipedia:Superior_cervical_ganglion, ZFIN:curator]	79804	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	superior cervical ganglion	superior cervical ganglion
UBERON:0000045	UBERON:0001989	efo_slim,uberon_slim,vertebrate_core	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	UBERON:0001989	"Trunk ganglion which is bilaterally paired and located at the anterior end of the sympathetic ganglion chain." [Wikipedia:Superior_cervical_ganglion, ZFIN:curator]	225320	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	ganglion	superior cervical ganglion
UBERON:0001997	\N	efo_slim,uberon_slim,vertebrate_core	"Epithelium inside the nasal cavity that is responsible for detecting odors[WP]." [Wikipedia:Olfactory_epithelium]	UBERON:0001997	"Epithelium inside the nasal cavity that is responsible for detecting odors[WP]." [Wikipedia:Olfactory_epithelium]	79805	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	olfactory epithelium	olfactory epithelium
UBERON:0000004	\N	efo_slim,uberon_slim,vertebrate_core	"the organ that is specialized for smell and is part of the respiratory system [database_cross_reference: MP:0002233,MESH:A01.456.505.733,MGI:cwg]" []	UBERON:0001997	"Epithelium inside the nasal cavity that is responsible for detecting odors[WP]." [Wikipedia:Olfactory_epithelium]	196072	\N	\N	uberon	0	EFO	olfactory apparatus	olfactory epithelium
UBERON:0002005	\N	efo_slim,uberon_slim,vertebrate_core	"The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation[GO]." [Wikipedia:Enteric_nervous_system]	UBERON:0002005	"The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation[GO]." [Wikipedia:Enteric_nervous_system]	79806	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	enteric nervous system	enteric nervous system
UBERON:0000467	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0002005	"The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation[GO]." [Wikipedia:Enteric_nervous_system]	196073	\N	\N	uberon	0	EFO	anatomical system	enteric nervous system
UBERON:0002012	\N	efo_slim,uberon_slim	"The pulmonary arteries carry blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood. In the human heart, the pulmonary trunk (pulmonary artery or main pulmonary artery) begins at the base of the right ventricle. It is short and wide - approximately 5 cm (2 inches) in length and 3 cm (1.2 inches) in diameter. It then branches into two pulmonary arteries (left and right), which deliver deoxygenated blood to the corresponding lung. [WP,unvetted]." [Wikipedia:Pulmonary_artery]	UBERON:0002012	"The pulmonary arteries carry blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood. In the human heart, the pulmonary trunk (pulmonary artery or main pulmonary artery) begins at the base of the right ventricle. It is short and wide - approximately 5 cm (2 inches) in length and 3 cm (1.2 inches) in diameter. It then branches into two pulmonary arteries (left and right), which deliver deoxygenated blood to the corresponding lung. [WP,unvetted]." [Wikipedia:Pulmonary_artery]	79807	\N	efo_slim,uberon_slim	uberon	0	EFO	pulmonary artery	pulmonary artery
UBERON:0001637	UBERON:0002012	efo_slim,uberon_slim	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0002012	"The pulmonary arteries carry blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood. In the human heart, the pulmonary trunk (pulmonary artery or main pulmonary artery) begins at the base of the right ventricle. It is short and wide - approximately 5 cm (2 inches) in length and 3 cm (1.2 inches) in diameter. It then branches into two pulmonary arteries (left and right), which deliver deoxygenated blood to the corresponding lung. [WP,unvetted]." [Wikipedia:Pulmonary_artery]	225321	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	pulmonary artery
UBERON:0001981	UBERON:0001637	efo_slim,uberon_slim	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0002012	"The pulmonary arteries carry blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood. In the human heart, the pulmonary trunk (pulmonary artery or main pulmonary artery) begins at the base of the right ventricle. It is short and wide - approximately 5 cm (2 inches) in length and 3 cm (1.2 inches) in diameter. It then branches into two pulmonary arteries (left and right), which deliver deoxygenated blood to the corresponding lung. [WP,unvetted]." [Wikipedia:Pulmonary_artery]	582158	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	pulmonary artery
UBERON:0002021	\N	efo_slim,uberon_slim	"Occipital lobe is the one of five lobes of the cerebral hemisphere which occupies the posterior-most portion of the hemisphere. Anteriorly, it shares an arbitrary border with the parietal lobe and temporal lobe. Medially, it is bounded by the longitudinal cerebral fissure." [Wikipedia:Occipital_lobe]	UBERON:0002021	"Occipital lobe is the one of five lobes of the cerebral hemisphere which occupies the posterior-most portion of the hemisphere. Anteriorly, it shares an arbitrary border with the parietal lobe and temporal lobe. Medially, it is bounded by the longitudinal cerebral fissure." [Wikipedia:Occipital_lobe]	79808	\N	efo_slim,uberon_slim	uberon	0	EFO	occipital lobe	occipital lobe
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002021	"Occipital lobe is the one of five lobes of the cerebral hemisphere which occupies the posterior-most portion of the hemisphere. Anteriorly, it shares an arbitrary border with the parietal lobe and temporal lobe. Medially, it is bounded by the longitudinal cerebral fissure." [Wikipedia:Occipital_lobe]	196074	\N	\N	uberon	0	EFO	animal component	occipital lobe
UBERON:0002028	\N	efo_slim,uberon_slim,vertebrate_core	"The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]." [Wikipedia:Rhombencephalon, ZFA:0000029, ZFIN:curator]	UBERON:0002028	"The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]." [Wikipedia:Rhombencephalon, ZFA:0000029, ZFIN:curator]	79809	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	hindbrain	hindbrain
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002028	"The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]." [Wikipedia:Rhombencephalon, ZFA:0000029, ZFIN:curator]	196075	\N	\N	uberon	0	EFO	animal component	hindbrain
UBERON:0002034	\N	efo_slim,uberon_slim,vertebrate_core	"The suprachiasmatic nucleus, or nuclei, (SCN), a tiny region on the brain's midline in a shallow impression of the optic chiasm, is responsible for controlling endogenous circadian rhythms. The neuronal and hormonal activities it generates regulate many different body functions over a 24-hour period. The SCN, pine cone shaped and the size of a grain of rice, interacts with many other regions of the brain. It contains several cell types and several different peptides and neurotransmitters. [WP,unvetted]." [Wikipedia:Suprachiasmatic_nucleus]	UBERON:0002034	"The suprachiasmatic nucleus, or nuclei, (SCN), a tiny region on the brain's midline in a shallow impression of the optic chiasm, is responsible for controlling endogenous circadian rhythms. The neuronal and hormonal activities it generates regulate many different body functions over a 24-hour period. The SCN, pine cone shaped and the size of a grain of rice, interacts with many other regions of the brain. It contains several cell types and several different peptides and neurotransmitters. [WP,unvetted]." [Wikipedia:Suprachiasmatic_nucleus]	79811	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	suprachiasmatic nucleus	suprachiasmatic nucleus
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002034	"The suprachiasmatic nucleus, or nuclei, (SCN), a tiny region on the brain's midline in a shallow impression of the optic chiasm, is responsible for controlling endogenous circadian rhythms. The neuronal and hormonal activities it generates regulate many different body functions over a 24-hour period. The SCN, pine cone shaped and the size of a grain of rice, interacts with many other regions of the brain. It contains several cell types and several different peptides and neurotransmitters. [WP,unvetted]." [Wikipedia:Suprachiasmatic_nucleus]	196076	\N	\N	uberon	0	EFO	animal component	suprachiasmatic nucleus
UBERON:0002037	\N	efo_slim,uberon_slim,vertebrate_core	"Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]." [BTO:0000232, https://sourceforge.net/tracker/index.php?func=detail&aid=3291162&group_id=76834&atid=1205376, ISBN:3764351209, MESH:A08.186.211.132.810.428.200, ZFA:0000100]	UBERON:0002037	"Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]." [BTO:0000232, https://sourceforge.net/tracker/index.php?func=detail&aid=3291162&group_id=76834&atid=1205376, ISBN:3764351209, MESH:A08.186.211.132.810.428.200, ZFA:0000100]	79812	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	cerebellum	cerebellum
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002037	"Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]." [BTO:0000232, https://sourceforge.net/tracker/index.php?func=detail&aid=3291162&group_id=76834&atid=1205376, ISBN:3764351209, MESH:A08.186.211.132.810.428.200, ZFA:0000100]	196077	\N	\N	uberon	0	EFO	animal component	cerebellum
UBERON:0002038	\N	efo_slim,uberon_slim	"Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons[FMA]." [FMA:67947, Wikipedia:Substantia_nigra]	UBERON:0002038	"Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons[FMA]." [FMA:67947, Wikipedia:Substantia_nigra]	79813	\N	efo_slim,uberon_slim	uberon	0	EFO	substantia nigra	substantia nigra
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002038	"Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons[FMA]." [FMA:67947, Wikipedia:Substantia_nigra]	196078	\N	\N	uberon	0	EFO	animal component	substantia nigra
UBERON:0002043	\N	efo_slim,uberon_slim,vertebrate_core	"A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic[NIF]. The dorsal raphe nucleus is a part of the raphe nucleus and consists of rostral and caudal subdivisions. The rostral aspect of the dorsal raphe is further divided into interfascicular, ventral, ventrolateral and dorsal subnuclei. The projections of the dorsal raphe have been found to vary topographically, and thus the subnuclei differ in their projections. An increased number of cells in the lateral aspects of the dorsal raphe is characteristic of humans and other primates. [WP,unvetted]." [https://sourceforge.net/tracker/?func=detail&atid=440764&aid=3248146&group_id=36855, NIF_GrossAnatomy:birnlex_982, Wikipedia:Dorsal_raphe_nucleus]	UBERON:0002043	"A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic[NIF]. The dorsal raphe nucleus is a part of the raphe nucleus and consists of rostral and caudal subdivisions. The rostral aspect of the dorsal raphe is further divided into interfascicular, ventral, ventrolateral and dorsal subnuclei. The projections of the dorsal raphe have been found to vary topographically, and thus the subnuclei differ in their projections. An increased number of cells in the lateral aspects of the dorsal raphe is characteristic of humans and other primates. [WP,unvetted]." [https://sourceforge.net/tracker/?func=detail&atid=440764&aid=3248146&group_id=36855, NIF_GrossAnatomy:birnlex_982, Wikipedia:Dorsal_raphe_nucleus]	79814	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	dorsal raphe nucleus	dorsal raphe nucleus
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002043	"A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic[NIF]. The dorsal raphe nucleus is a part of the raphe nucleus and consists of rostral and caudal subdivisions. The rostral aspect of the dorsal raphe is further divided into interfascicular, ventral, ventrolateral and dorsal subnuclei. The projections of the dorsal raphe have been found to vary topographically, and thus the subnuclei differ in their projections. An increased number of cells in the lateral aspects of the dorsal raphe is characteristic of humans and other primates. [WP,unvetted]." [https://sourceforge.net/tracker/?func=detail&atid=440764&aid=3248146&group_id=36855, NIF_GrossAnatomy:birnlex_982, Wikipedia:Dorsal_raphe_nucleus]	196079	\N	\N	uberon	0	EFO	animal component	dorsal raphe nucleus
UBERON:0002046	\N	efo_slim,organ_slim,uberon_slim	"A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]." [BTO:0001379, Wikipedia:Thyroid]	UBERON:0002046	"A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]." [BTO:0001379, Wikipedia:Thyroid]	79815	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	thyroid gland	thyroid gland
UBERON:6007435	\N	efo_slim,organ_slim,uberon_slim	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0002046	"A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]." [BTO:0001379, Wikipedia:Thyroid]	196080	\N	\N	uberon	0	EFO	endocrine system component	thyroid gland
UBERON:0002530	UBERON:0002046	efo_slim,organ_slim,uberon_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0002046	"A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]." [BTO:0001379, Wikipedia:Thyroid]	225322	efo_slim,organ_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	gland	thyroid gland
UBERON:0002048	\N	efo_slim,major_organ,organ_slim,uberon_slim	"Respiration organ present in all air-breathing animals whose principal function is to transport oxygen from the atmosphere into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere[WP]. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax[GO]." [BTO:0000763, Wikipedia:Lung]	UBERON:0002048	"Respiration organ present in all air-breathing animals whose principal function is to transport oxygen from the atmosphere into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere[WP]. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax[GO]." [BTO:0000763, Wikipedia:Lung]	79816	\N	efo_slim,major_organ,organ_slim,uberon_slim	uberon	0	EFO	lung	lung
EFO:0000787	\N	efo_slim,major_organ,organ_slim,uberon_slim	"" []	UBERON:0002048	"Respiration organ present in all air-breathing animals whose principal function is to transport oxygen from the atmosphere into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere[WP]. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax[GO]." [BTO:0000763, Wikipedia:Lung]	196081	\N	\N	uberon	0	EFO	animal component	lung
UBERON:0002049	\N	uberon_slim,vertebrate_core	"An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face." [ZFA:0005249]	UBERON:0002049	"An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face." [ZFA:0005249]	79817	\N	uberon_slim,vertebrate_core	uberon	0	EFO	vasculature	vasculature
EFO:0000787	\N	uberon_slim,vertebrate_core	"" []	UBERON:0002049	"An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face." [ZFA:0005249]	196082	\N	\N	uberon	0	EFO	animal component	vasculature
UBERON:0002050	\N	efo_slim,inconsistent_with_fma,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0002050	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	79818	\N	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	0	EFO	embryonic structure	embryonic structure
EFO:0000787	\N	efo_slim,inconsistent_with_fma,vertebrate_core	"" []	UBERON:0002050	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	196083	\N	\N	uberon	0	EFO	animal component	embryonic structure
UBERON:0002058	\N	efo_slim,uberon_slim	"The ciliary ganglion is a parasympathetic ganglion located in the posterior orbit. It measures 12 millimeters in diameter and contains approximately 2,500 neurons. Preganglionic axons from the Edinger-Westphal nucleus form synapses with these cells. The postganglionic axons run in the short ciliary nerves and innervate two eye muscles: the sphincter pupillae constricts the pupil, known as Miosis. The opposite, Mydriasis, is the dilation of the pupil. the ciliaris muscle contracts, releasing tension on the Zonular Fibers, making the lens more convex, also known as accommodation. Both of these muscles are involuntary  they are controlled by the autonomic nervous system. It is one of four parasympathetic ganglia of the head and neck.. [WP,unvetted]." [Wikipedia:Ciliary_ganglion]	UBERON:0002058	"The ciliary ganglion is a parasympathetic ganglion located in the posterior orbit. It measures 12 millimeters in diameter and contains approximately 2,500 neurons. Preganglionic axons from the Edinger-Westphal nucleus form synapses with these cells. The postganglionic axons run in the short ciliary nerves and innervate two eye muscles: the sphincter pupillae constricts the pupil, known as Miosis. The opposite, Mydriasis, is the dilation of the pupil. the ciliaris muscle contracts, releasing tension on the Zonular Fibers, making the lens more convex, also known as accommodation. Both of these muscles are involuntary  they are controlled by the autonomic nervous system. It is one of four parasympathetic ganglia of the head and neck.. [WP,unvetted]." [Wikipedia:Ciliary_ganglion]	79820	\N	efo_slim,uberon_slim	uberon	0	EFO	ciliary ganglion	ciliary ganglion
UBERON:0000045	UBERON:0002058	efo_slim,uberon_slim	"A biological tissue mass, most commonly a mass of nerve cell bodies." [Wikipedia:Ganglion]	UBERON:0002058	"The ciliary ganglion is a parasympathetic ganglion located in the posterior orbit. It measures 12 millimeters in diameter and contains approximately 2,500 neurons. Preganglionic axons from the Edinger-Westphal nucleus form synapses with these cells. The postganglionic axons run in the short ciliary nerves and innervate two eye muscles: the sphincter pupillae constricts the pupil, known as Miosis. The opposite, Mydriasis, is the dilation of the pupil. the ciliaris muscle contracts, releasing tension on the Zonular Fibers, making the lens more convex, also known as accommodation. Both of these muscles are involuntary  they are controlled by the autonomic nervous system. It is one of four parasympathetic ganglia of the head and neck.. [WP,unvetted]." [Wikipedia:Ciliary_ganglion]	225323	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	ganglion	ciliary ganglion
UBERON:0002066	\N	efo_slim,uberon_slim	"The umbilical vein is a blood vessel present during fetal development that carries oxygenated blood from the placenta to the growing fetus. [WP,unvetted]." [Wikipedia:Umbilical_vein]	UBERON:0002066	"The umbilical vein is a blood vessel present during fetal development that carries oxygenated blood from the placenta to the growing fetus. [WP,unvetted]." [Wikipedia:Umbilical_vein]	79821	\N	efo_slim,uberon_slim	uberon	0	EFO	umbilical vein	umbilical vein
UBERON:0001638	UBERON:0002066	efo_slim,uberon_slim	"Any of the tubular branching vessels that carry blood from the capillaries toward the heart." [Wikipedia:Vein]	UBERON:0002066	"The umbilical vein is a blood vessel present during fetal development that carries oxygenated blood from the placenta to the growing fetus. [WP,unvetted]." [Wikipedia:Umbilical_vein]	225324	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	vein	umbilical vein
UBERON:0001981	UBERON:0001638	efo_slim,uberon_slim	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0002066	"The umbilical vein is a blood vessel present during fetal development that carries oxygenated blood from the placenta to the growing fetus. [WP,unvetted]." [Wikipedia:Umbilical_vein]	582159	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	umbilical vein
UBERON:0002067	\N	efo_slim,uberon_slim,vertebrate_core	"The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]." [Wikipedia:Dermis, ZFIN:curator]	UBERON:0002067	"The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]." [Wikipedia:Dermis, ZFIN:curator]	79822	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	dermis	dermis
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002067	"The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]." [Wikipedia:Dermis, ZFIN:curator]	196084	\N	\N	uberon	0	EFO	animal component	dermis
UBERON:0002073	\N	efo_slim,organ_slim,uberon_slim	"a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]." [Wikipedia:Hair_follicle]	UBERON:0002073	"a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]." [Wikipedia:Hair_follicle]	79823	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	hair follicle	hair follicle
EFO:0000787	\N	efo_slim,organ_slim,uberon_slim	"" []	UBERON:0002073	"a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]." [Wikipedia:Hair_follicle]	196085	\N	\N	uberon	0	EFO	animal component	hair follicle
UBERON:0002081	\N	efo_slim,uberon_slim,vertebrate_core	"Cardiac chamber which consists of a wall that surrounds the cavity of an atrium.[FMA]" [FMA:FMA, Wikipedia:Heart_atrium]	UBERON:0002081	"Cardiac chamber which consists of a wall that surrounds the cavity of an atrium.[FMA]" [FMA:FMA, Wikipedia:Heart_atrium]	79827	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	cardiac atrium	cardiac atrium
EFO:0001955	\N	efo_slim,uberon_slim,vertebrate_core	"A heart component is an animal component that is part of some heart." []	UBERON:0002081	"Cardiac chamber which consists of a wall that surrounds the cavity of an atrium.[FMA]" [FMA:FMA, Wikipedia:Heart_atrium]	196088	\N	\N	uberon	0	EFO	heart component	cardiac atrium
UBERON:0002082	\N	efo_slim,uberon_slim,vertebrate_core	"Cardiac chamber which consists of a wall that surrounds the cavity of a ventricle." [FMA:7100]	UBERON:0002082	"Cardiac chamber which consists of a wall that surrounds the cavity of a ventricle." [FMA:7100]	79828	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	cardiac ventricle	cardiac ventricle
EFO:0001955	\N	efo_slim,uberon_slim,vertebrate_core	"A heart component is an animal component that is part of some heart." []	UBERON:0002082	"Cardiac chamber which consists of a wall that surrounds the cavity of a ventricle." [FMA:7100]	196089	\N	\N	uberon	0	EFO	heart component	cardiac ventricle
UBERON:0002090	\N	efo_slim,uberon_slim,vertebrate_core	"The post-cranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]." [https://sourceforge.net/tracker/?func=detail&aid=2983975&group_id=76834&atid=974957, https://sourceforge.net/tracker/?func=detail&atid=1205376&aid=2983977&group_id=76834, ZFA:0000317]	UBERON:0002090	"The post-cranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]." [https://sourceforge.net/tracker/?func=detail&aid=2983975&group_id=76834&atid=974957, https://sourceforge.net/tracker/?func=detail&atid=1205376&aid=2983977&group_id=76834, ZFA:0000317]	79830	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	postcranial axial skeleton	postcranial axial skeleton
EFO:0003858	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002090	"The post-cranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]." [https://sourceforge.net/tracker/?func=detail&aid=2983975&group_id=76834&atid=974957, https://sourceforge.net/tracker/?func=detail&atid=1205376&aid=2983977&group_id=76834, ZFA:0000317]	196091	\N	\N	uberon	0	EFO	skeleton structure	postcranial axial skeleton
UBERON:0002091	\N	efo_slim,uberon_slim,vertebrate_core	"Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]." [https://orcid.org/0000-0002-6601-2165, UBERONREF:0000003, Wikipedia:Appendicular_skeleton]	UBERON:0002091	"Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]." [https://orcid.org/0000-0002-6601-2165, UBERONREF:0000003, Wikipedia:Appendicular_skeleton]	79831	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	appendicular skeleton	appendicular skeleton
EFO:0003858	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002091	"Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]." [https://orcid.org/0000-0002-6601-2165, UBERONREF:0000003, Wikipedia:Appendicular_skeleton]	196092	\N	\N	uberon	0	EFO	skeleton structure	appendicular skeleton
UBERON:0002094	\N	efo_slim,uberon_slim	"Cardiac septum which separates the right ventricle from the left ventricle.[FMA]" [FMA:FMA, Wikipedia:Interventricular_septum]	UBERON:0002094	"Cardiac septum which separates the right ventricle from the left ventricle.[FMA]" [FMA:FMA, Wikipedia:Interventricular_septum]	79832	\N	efo_slim,uberon_slim	uberon	0	EFO	interventricular septum	interventricular septum
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002094	"Cardiac septum which separates the right ventricle from the left ventricle.[FMA]" [FMA:FMA, Wikipedia:Interventricular_septum]	196093	\N	\N	uberon	0	EFO	animal component	interventricular septum
UBERON:0002097	\N	efo_slim,major_organ,uberon_slim	"Nonparenchymatous organ that consists of the dermis and epidermis. Subdivisions of the skin surround various body parts; as a whole, the skin constitutes the external layer of the body. Examples: There is only one skin[FMA]. Surface structure that consists of the external membranous integument of the animal." [FMA:7163, OMD:skin, Wikipedia:Skin]	UBERON:0002097	"Nonparenchymatous organ that consists of the dermis and epidermis. Subdivisions of the skin surround various body parts; as a whole, the skin constitutes the external layer of the body. Examples: There is only one skin[FMA]. Surface structure that consists of the external membranous integument of the animal." [FMA:7163, OMD:skin, Wikipedia:Skin]	79833	\N	efo_slim,major_organ,uberon_slim	uberon	0	EFO	skin of body	skin of body
EFO:0000787	\N	efo_slim,major_organ,uberon_slim	"" []	UBERON:0002097	"Nonparenchymatous organ that consists of the dermis and epidermis. Subdivisions of the skin surround various body parts; as a whole, the skin constitutes the external layer of the body. Examples: There is only one skin[FMA]. Surface structure that consists of the external membranous integument of the animal." [FMA:7163, OMD:skin, Wikipedia:Skin]	196094	\N	\N	uberon	0	EFO	animal component	skin of body
UBERON:0002100	\N	efo_slim,uberon_slim,vertebrate_core	"Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present." [TAO:0001115, UBERONREF:0000006, Wikipedia:Torso]	UBERON:0002100	"Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present." [TAO:0001115, UBERONREF:0000006, Wikipedia:Torso]	79834	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	trunk	trunk
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002100	"Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present." [TAO:0001115, UBERONREF:0000006, Wikipedia:Torso]	196095	\N	\N	uberon	0	EFO	animal component	trunk
UBERON:0002101	\N	efo_slim,uberon_slim	"A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts." [UBERONREF:0000003]	UBERON:0002101	"A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts." [UBERONREF:0000003]	79835	\N	efo_slim,uberon_slim	uberon	0	EFO	limb	limb
UBERON:0000026	UBERON:0002101	efo_slim,uberon_slim	"Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS]	UBERON:0002101	"A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts." [UBERONREF:0000003]	225325	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	appendage	limb
UBERON:0002102	\N	efo_slim,uberon_slim	"A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts." [UBERONREF:0000003]	UBERON:0002102	"A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts." [UBERONREF:0000003]	79836	\N	efo_slim,uberon_slim	uberon	0	EFO	forelimb	forelimb
UBERON:0002101	UBERON:0002102	efo_slim,uberon_slim	"A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts." [UBERONREF:0000003]	UBERON:0002102	"A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts." [UBERONREF:0000003]	225326	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	limb	forelimb
UBERON:0000026	UBERON:0002101	efo_slim,uberon_slim	"Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS]	UBERON:0002102	"A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts." [UBERONREF:0000003]	582160	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	2	EFO	appendage	forelimb
UBERON:0002103	\N	efo_slim,uberon_slim	"A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts." [UBERONREF:0000003, Wikipedia:Hindlimb, Wikipedia:Lower_limb]	UBERON:0002103	"A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts." [UBERONREF:0000003, Wikipedia:Hindlimb, Wikipedia:Lower_limb]	79837	\N	efo_slim,uberon_slim	uberon	0	EFO	hindlimb	hindlimb
UBERON:0002101	UBERON:0002103	efo_slim,uberon_slim	"A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts." [UBERONREF:0000003]	UBERON:0002103	"A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts." [UBERONREF:0000003, Wikipedia:Hindlimb, Wikipedia:Lower_limb]	225327	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	limb	hindlimb
UBERON:0000026	UBERON:0002101	efo_slim,uberon_slim	"Major subdivision of an organism that protrudes from the body[DOS, CARO]." [CARO:DOS]	UBERON:0002103	"A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts." [UBERONREF:0000003, Wikipedia:Hindlimb, Wikipedia:Lower_limb]	582161	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	2	EFO	appendage	hindlimb
UBERON:0002106	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"Organ found in virtually all vertebrate animals with important roles in regard to red blood cells and the immune system. In humans, it is located in the left upper quadrant of the abdomen. It removes old red blood cells and holds a reserve in case of hemorrhagic shock, especially in animals like horses (not in humans), while recycling iron. It synthesizes antibodies in its white pulp and removes, from blood and lymph node circulation, antibody-coated bacteria along with antibody-coated blood cells." [Wikipedia:Spleen]	UBERON:0002106	"Organ found in virtually all vertebrate animals with important roles in regard to red blood cells and the immune system. In humans, it is located in the left upper quadrant of the abdomen. It removes old red blood cells and holds a reserve in case of hemorrhagic shock, especially in animals like horses (not in humans), while recycling iron. It synthesizes antibodies in its white pulp and removes, from blood and lymph node circulation, antibody-coated bacteria along with antibody-coated blood cells." [Wikipedia:Spleen]	79838	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	spleen	spleen
EFO:0000787	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002106	"Organ found in virtually all vertebrate animals with important roles in regard to red blood cells and the immune system. In humans, it is located in the left upper quadrant of the abdomen. It removes old red blood cells and holds a reserve in case of hemorrhagic shock, especially in animals like horses (not in humans), while recycling iron. It synthesizes antibodies in its white pulp and removes, from blood and lymph node circulation, antibody-coated bacteria along with antibody-coated blood cells." [Wikipedia:Spleen]	196096	\N	\N	uberon	0	EFO	animal component	spleen
UBERON:0002107	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]." [BTO:0000759, Wikipedia:Liver]	UBERON:0002107	"An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]." [BTO:0000759, Wikipedia:Liver]	79839	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	liver	liver
UBERON:6007435	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0002107	"An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]." [BTO:0000759, Wikipedia:Liver]	196097	\N	\N	uberon	0	EFO	endocrine system component	liver
UBERON:0002530	UBERON:0002107	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0002107	"An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]." [BTO:0000759, Wikipedia:Liver]	225328	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim	uberon	1	EFO	gland	liver
UBERON:0002108	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]." [Wikipedia:Small_intestine]	UBERON:0002108	"Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]." [Wikipedia:Small_intestine]	79840	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	small intestine	small intestine
EFO:0000787	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002108	"Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]." [Wikipedia:Small_intestine]	196098	\N	\N	uberon	0	EFO	animal component	small intestine
UBERON:0002110	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"a small organ that aids digestion and stores bile produced by the liver[WP]. Organ with organ cavity which is continuous proximally with the cystic duct and distally terminates in the fundus of the gallbladder[FMA]." [FMA:7202, Wikipedia:Gallbladder]	UBERON:0002110	"a small organ that aids digestion and stores bile produced by the liver[WP]. Organ with organ cavity which is continuous proximally with the cystic duct and distally terminates in the fundus of the gallbladder[FMA]." [FMA:7202, Wikipedia:Gallbladder]	79841	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	gallbladder	gallbladder
EFO:0000787	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002110	"a small organ that aids digestion and stores bile produced by the liver[WP]. Organ with organ cavity which is continuous proximally with the cystic duct and distally terminates in the fundus of the gallbladder[FMA]." [FMA:7202, Wikipedia:Gallbladder]	196099	\N	\N	uberon	0	EFO	animal component	gallbladder
UBERON:0002112	\N	\N	"A portion of smooth muscle tissue that is part of a esophagus [Automatically generated definition]." []	UBERON:0002112	"A portion of smooth muscle tissue that is part of a esophagus [Automatically generated definition]." []	79842	\N	\N	uberon	0	EFO	smooth muscle of esophagus	smooth muscle of esophagus
EFO:0000889	\N	\N	"Visceral muscle of the adult." []	UBERON:0002112	"A portion of smooth muscle tissue that is part of a esophagus [Automatically generated definition]." []	196100	\N	\N	uberon	0	EFO	smooth muscle	smooth muscle of esophagus
UBERON:0002113	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"A paired organ which has the production of urine as its primary function." [Wikipedia:Kidney]	UBERON:0002113	"A paired organ which has the production of urine as its primary function." [Wikipedia:Kidney]	79843	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	kidney	kidney
EFO:0000787	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002113	"A paired organ which has the production of urine as its primary function." [Wikipedia:Kidney]	196101	\N	\N	uberon	0	EFO	animal component	kidney
UBERON:0002114	\N	efo_slim,uberon_slim,vertebrate_core	"The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one)." [ISBN:0815318960, Wikipedia:Duodenum]	UBERON:0002114	"The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one)." [ISBN:0815318960, Wikipedia:Duodenum]	79844	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	duodenum	duodenum
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002114	"The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one)." [ISBN:0815318960, Wikipedia:Duodenum]	196102	\N	\N	uberon	0	EFO	animal component	duodenum
UBERON:0002115	\N	efo_slim,uberon_slim	"The jejunum is the middle section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms middle intestine or mid-gut may be used instead of jejunum. [WP,unvetted]." [Wikipedia:Jejunum]	UBERON:0002115	"The jejunum is the middle section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms middle intestine or mid-gut may be used instead of jejunum. [WP,unvetted]." [Wikipedia:Jejunum]	79845	\N	efo_slim,uberon_slim	uberon	0	EFO	jejunum	jejunum
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002115	"The jejunum is the middle section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms middle intestine or mid-gut may be used instead of jejunum. [WP,unvetted]." [Wikipedia:Jejunum]	196103	\N	\N	uberon	0	EFO	animal component	jejunum
UBERON:0002116	\N	efo_slim,uberon_slim	"The ileum is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms posterior intestine or distal intestine may be used instead of ileum. [WP,unvetted]." [Wikipedia:Ileum]	UBERON:0002116	"The ileum is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms posterior intestine or distal intestine may be used instead of ileum. [WP,unvetted]." [Wikipedia:Ileum]	79846	\N	efo_slim,uberon_slim	uberon	0	EFO	ileum	ileum
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002116	"The ileum is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms posterior intestine or distal intestine may be used instead of ileum. [WP,unvetted]." [Wikipedia:Ileum]	196104	\N	\N	uberon	0	EFO	animal component	ileum
UBERON:0002120	\N	efo_slim,organ_slim,uberon_slim	"In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]." [GO:0048793, Wikipedia:Pronephros]	UBERON:0002120	"In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]." [GO:0048793, Wikipedia:Pronephros]	79847	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	pronephros	pronephros
UBERON:0002113	UBERON:0002120	efo_slim,organ_slim,uberon_slim	"A paired organ which has the production of urine as its primary function." [Wikipedia:Kidney]	UBERON:0002120	"In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]." [GO:0048793, Wikipedia:Pronephros]	225329	efo_slim,organ_slim,uberon_slim	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	uberon	1	EFO	kidney	pronephros
UBERON:0002124	\N	efo_slim	"Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size." [Wikipedia:Thymus#Medulla]	UBERON:0002124	"Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size." [Wikipedia:Thymus#Medulla]	79848	\N	efo_slim	uberon	0	EFO	medulla of thymus	medulla of thymus
UBERON:6007435	\N	efo_slim	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0002124	"Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size." [Wikipedia:Thymus#Medulla]	196105	\N	\N	uberon	0	EFO	endocrine system component	medulla of thymus
UBERON:0002135	\N	efo_slim,uberon_slim	"Atrioventricular valve which has as its parts the anterior and posterior leaflets, attached to the fibrous ring of mitral valve.[FMA]" [FMA:FMA, Wikipedia:Mitral_valve]	UBERON:0002135	"Atrioventricular valve which has as its parts the anterior and posterior leaflets, attached to the fibrous ring of mitral valve.[FMA]" [FMA:FMA, Wikipedia:Mitral_valve]	79849	\N	efo_slim,uberon_slim	uberon	0	EFO	mitral valve	mitral valve
EFO:0001955	\N	efo_slim,uberon_slim	"A heart component is an animal component that is part of some heart." []	UBERON:0002135	"Atrioventricular valve which has as its parts the anterior and posterior leaflets, attached to the fibrous ring of mitral valve.[FMA]" [FMA:FMA, Wikipedia:Mitral_valve]	196106	\N	\N	uberon	0	EFO	heart component	mitral valve
UBERON:0002137	\N	efo_slim,uberon_slim	"Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA]" [FMA:FMA, Wikipedia:Aortic_valve]	UBERON:0002137	"Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA]" [FMA:FMA, Wikipedia:Aortic_valve]	79850	\N	efo_slim,uberon_slim	uberon	0	EFO	aortic valve	aortic valve
EFO:0001955	\N	efo_slim,uberon_slim	"A heart component is an animal component that is part of some heart." []	UBERON:0002137	"Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA]" [FMA:FMA, Wikipedia:Aortic_valve]	196107	\N	\N	uberon	0	EFO	heart component	aortic valve
UBERON:0002148	\N	efo_slim,uberon_slim,vertebrate_core	"The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic[GO]. Bluish region in the superior angle of the fourth ventricle floor, corresponding to melanin-like pigmented nerve cells which lie lateral to the ponto-mesencephalic central gray (griseum centrale). It is also known as nucleus pigmentosus pontis[GAID]." [GAID:577, GO:0021703, Wikipedia:Locus_ceruleus]	UBERON:0002148	"The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic[GO]. Bluish region in the superior angle of the fourth ventricle floor, corresponding to melanin-like pigmented nerve cells which lie lateral to the ponto-mesencephalic central gray (griseum centrale). It is also known as nucleus pigmentosus pontis[GAID]." [GAID:577, GO:0021703, Wikipedia:Locus_ceruleus]	79851	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	locus ceruleus	locus ceruleus
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002148	"The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic[GO]. Bluish region in the superior angle of the fourth ventricle floor, corresponding to melanin-like pigmented nerve cells which lie lateral to the ponto-mesencephalic central gray (griseum centrale). It is also known as nucleus pigmentosus pontis[GAID]." [GAID:577, GO:0021703, Wikipedia:Locus_ceruleus]	196108	\N	\N	uberon	0	EFO	animal component	locus ceruleus
UBERON:0002165	\N	efo_slim,uberon_slim,vertebrate_core	"The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. Tunica intima which has as its parts the endothelium of endocardium and the fibroelastic connective tissue that surrounds the cavity of a cardiac chamber[FMA]." [FMA:7280, Wikipedia:Endocardium]	UBERON:0002165	"The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. Tunica intima which has as its parts the endothelium of endocardium and the fibroelastic connective tissue that surrounds the cavity of a cardiac chamber[FMA]." [FMA:7280, Wikipedia:Endocardium]	79852	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	endocardium	endocardium
EFO:0001955	\N	efo_slim,uberon_slim,vertebrate_core	"A heart component is an animal component that is part of some heart." []	UBERON:0002165	"The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. Tunica intima which has as its parts the endothelium of endocardium and the fibroelastic connective tissue that surrounds the cavity of a cardiac chamber[FMA]." [FMA:7280, Wikipedia:Endocardium]	196109	\N	\N	uberon	0	EFO	heart component	endocardium
UBERON:0002182	\N	efo_slim,organ_slim,uberon_slim	"One of two branches of the trachea." [Wikipedia:Main_bronchus]	UBERON:0002182	"One of two branches of the trachea." [Wikipedia:Main_bronchus]	79853	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	main bronchus	main bronchus
UBERON:0002185	UBERON:0002182	efo_slim,organ_slim,uberon_slim	"A portion of the airway that connects to the lungs[GO]." [Wikipedia:Bronchus]	UBERON:0002182	"One of two branches of the trachea." [Wikipedia:Main_bronchus]	225330	efo_slim,organ_slim,uberon_slim	efo_slim,organ_slim,uberon_slim	uberon	1	EFO	bronchus	main bronchus
UBERON:0002185	\N	efo_slim,organ_slim,uberon_slim	"A portion of the airway that connects to the lungs[GO]." [Wikipedia:Bronchus]	UBERON:0002185	"A portion of the airway that connects to the lungs[GO]." [Wikipedia:Bronchus]	79854	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	bronchus	bronchus
EFO:0000787	\N	efo_slim,organ_slim,uberon_slim	"" []	UBERON:0002185	"A portion of the airway that connects to the lungs[GO]." [Wikipedia:Bronchus]	196110	\N	\N	uberon	0	EFO	animal component	bronchus
UBERON:0002190	\N	\N	"A portion of adipose tissue that is part of the hypodermis, beneath the dermis. [ 0000-0002-6601-2165 ] " []	UBERON:0002190	"A portion of adipose tissue that is part of the hypodermis, beneath the dermis. [ 0000-0002-6601-2165 ] " []	79856	\N	\N	uberon	0	EFO	subcutaneous adipose tissue	subcutaneous adipose tissue
UBERON:0001013	UBERON:0002190	\N	"Connective tissue composed of adipocytes." [Wikipedia:Adipose_tissue]	UBERON:0002190	"A portion of adipose tissue that is part of the hypodermis, beneath the dermis. [ 0000-0002-6601-2165 ] " []	225331	\N	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	adipose tissue	subcutaneous adipose tissue
UBERON:0002196	\N	efo_slim,uberon_slim,vertebrate_core	"The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish[ZFA]." [Wikipedia:Adenohypophysis, ZFIN:curator]	UBERON:0002196	"The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish[ZFA]." [Wikipedia:Adenohypophysis, ZFIN:curator]	79857	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	adenohypophysis	adenohypophysis
UBERON:6007435	\N	efo_slim,uberon_slim,vertebrate_core	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0002196	"The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish[ZFA]." [Wikipedia:Adenohypophysis, ZFIN:curator]	196111	\N	\N	uberon	0	EFO	endocrine system component	adenohypophysis
UBERON:0002198	\N	uberon_slim,vertebrate_core	"\\ncomprises the posterior lobe of the pituitary gland and is part of the endocrine system[WP].\\n" []	UBERON:0002198	"\\ncomprises the posterior lobe of the pituitary gland and is part of the endocrine system[WP].\\n" []	79858	\N	uberon_slim,vertebrate_core	uberon	0	EFO	neurohypophysis	neurohypophysis
EFO:0000787	\N	uberon_slim,vertebrate_core	"" []	UBERON:0002198	"\\ncomprises the posterior lobe of the pituitary gland and is part of the endocrine system[WP].\\n" []	196112	\N	\N	uberon	0	EFO	animal component	neurohypophysis
UBERON:0002203	\N	vertebrate_core	"" []	UBERON:0002203	"" []	79860	\N	vertebrate_core	uberon	0	EFO	vasculature of eye	vasculature of eye
EFO:0000787	\N	vertebrate_core	"" []	UBERON:0002203	"" []	196113	\N	\N	uberon	0	EFO	animal component	vasculature of eye
UBERON:0002240	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"Elongated, approximately cylindrical part of the central nervous system that lies in the vertebral canal and from which the spinal nerves emerge." [OMD:spinal+cord, Wikipedia:Spinal_cord]	UBERON:0002240	"Elongated, approximately cylindrical part of the central nervous system that lies in the vertebral canal and from which the spinal nerves emerge." [OMD:spinal+cord, Wikipedia:Spinal_cord]	79864	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	spinal cord	spinal cord
EFO:0000787	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002240	"Elongated, approximately cylindrical part of the central nervous system that lies in the vertebral canal and from which the spinal nerves emerge." [OMD:spinal+cord, Wikipedia:Spinal_cord]	196116	\N	\N	uberon	0	EFO	animal component	spinal cord
UBERON:0002245	\N	uberon_slim	"A paired regions of the cerebellum that lie outside and lateral to the central vermis[MP]. The cerebellum consists of three parts, a median and two lateral, which are continuous with each other, and are substantially the same in structure. The median portion is constricted, and is called the vermis, from its annulated appearance which it owes to the transverse ridges and furrows upon it; the lateral expanded portions are named the hemispheres. The lateral hemisphere is considered the portion of the cerebellum to develop most recently. [WP,unvetted]." []	UBERON:0002245	"A paired regions of the cerebellum that lie outside and lateral to the central vermis[MP]. The cerebellum consists of three parts, a median and two lateral, which are continuous with each other, and are substantially the same in structure. The median portion is constricted, and is called the vermis, from its annulated appearance which it owes to the transverse ridges and furrows upon it; the lateral expanded portions are named the hemispheres. The lateral hemisphere is considered the portion of the cerebellum to develop most recently. [WP,unvetted]." []	79865	\N	uberon_slim	uberon	0	EFO	cerebellar hemisphere	cerebellar hemisphere
EFO:0000787	\N	uberon_slim	"" []	UBERON:0002245	"A paired regions of the cerebellum that lie outside and lateral to the central vermis[MP]. The cerebellum consists of three parts, a median and two lateral, which are continuous with each other, and are substantially the same in structure. The median portion is constricted, and is called the vermis, from its annulated appearance which it owes to the transverse ridges and furrows upon it; the lateral expanded portions are named the hemispheres. The lateral hemisphere is considered the portion of the cerebellum to develop most recently. [WP,unvetted]." []	196117	\N	\N	uberon	0	EFO	animal component	cerebellar hemisphere
UBERON:0002255	\N	efo_slim,organ_slim,uberon_slim	"The vomeronasal organ (VNO), or Jacobson's organ, is an auxiliary olfactory sense organ that is found in many animals. It was discovered by Ludwig Jacobson in 1813. During embryological development, it forms from the nasal (olfactory) placode, at the anterior edge of the neural plate. It is a chemoreceptor organ which is completely separated from the nasal cavity the majority of the time, being enclosed in a separate bony or cartilaginous capsule which opens into the base of the nasal cavity. It is a tubular crescent shape and split into two pairs, separated by the nasal septum. It is the first processing stage of the accessory olfactory system, after which chemical stimuli go to the accessory olfactory bulb, then to targets in the amygdala and hypothalamus. The vomeronasal organ is mainly used to detect pheromones, chemical messengers that carry information between individuals of the same species, hence is sometimes referred to as the 'sixth sense. ' The VNO has two separate types of neuronal receptors, V1R and V2R, which are seven-transmembrane receptors that are coupled to G proteins. The receptors are distinct from each other and form the large family of receptors in the main olfactory system. Evidence shows that the VNO responds to nonvolatile cues which stimulate the receptor neurons. Information is then transferred to the accessory olfactory bulb as well as other centres of the brain such as the anterior part of the hypothalamus. Its presence in many animals has been widely studied and the importance of the vomeronasal system to the role of reproduction and social behavior (through influence on anterior hypothalamus) has been shown in many studies. Its presence and functionality in humans is widely controversial, though most studies agree the organ regresses during fetal development. [WP,unvetted]." [Wikipedia:Vomeronasal_organ]	UBERON:0002255	"The vomeronasal organ (VNO), or Jacobson's organ, is an auxiliary olfactory sense organ that is found in many animals. It was discovered by Ludwig Jacobson in 1813. During embryological development, it forms from the nasal (olfactory) placode, at the anterior edge of the neural plate. It is a chemoreceptor organ which is completely separated from the nasal cavity the majority of the time, being enclosed in a separate bony or cartilaginous capsule which opens into the base of the nasal cavity. It is a tubular crescent shape and split into two pairs, separated by the nasal septum. It is the first processing stage of the accessory olfactory system, after which chemical stimuli go to the accessory olfactory bulb, then to targets in the amygdala and hypothalamus. The vomeronasal organ is mainly used to detect pheromones, chemical messengers that carry information between individuals of the same species, hence is sometimes referred to as the 'sixth sense. ' The VNO has two separate types of neuronal receptors, V1R and V2R, which are seven-transmembrane receptors that are coupled to G proteins. The receptors are distinct from each other and form the large family of receptors in the main olfactory system. Evidence shows that the VNO responds to nonvolatile cues which stimulate the receptor neurons. Information is then transferred to the accessory olfactory bulb as well as other centres of the brain such as the anterior part of the hypothalamus. Its presence in many animals has been widely studied and the importance of the vomeronasal system to the role of reproduction and social behavior (through influence on anterior hypothalamus) has been shown in many studies. Its presence and functionality in humans is widely controversial, though most studies agree the organ regresses during fetal development. [WP,unvetted]." [Wikipedia:Vomeronasal_organ]	79866	\N	efo_slim,organ_slim,uberon_slim	uberon	0	EFO	vomeronasal organ	vomeronasal organ
UBERON:0000004	\N	efo_slim,organ_slim,uberon_slim	"the organ that is specialized for smell and is part of the respiratory system [database_cross_reference: MP:0002233,MESH:A01.456.505.733,MGI:cwg]" []	UBERON:0002255	"The vomeronasal organ (VNO), or Jacobson's organ, is an auxiliary olfactory sense organ that is found in many animals. It was discovered by Ludwig Jacobson in 1813. During embryological development, it forms from the nasal (olfactory) placode, at the anterior edge of the neural plate. It is a chemoreceptor organ which is completely separated from the nasal cavity the majority of the time, being enclosed in a separate bony or cartilaginous capsule which opens into the base of the nasal cavity. It is a tubular crescent shape and split into two pairs, separated by the nasal septum. It is the first processing stage of the accessory olfactory system, after which chemical stimuli go to the accessory olfactory bulb, then to targets in the amygdala and hypothalamus. The vomeronasal organ is mainly used to detect pheromones, chemical messengers that carry information between individuals of the same species, hence is sometimes referred to as the 'sixth sense. ' The VNO has two separate types of neuronal receptors, V1R and V2R, which are seven-transmembrane receptors that are coupled to G proteins. The receptors are distinct from each other and form the large family of receptors in the main olfactory system. Evidence shows that the VNO responds to nonvolatile cues which stimulate the receptor neurons. Information is then transferred to the accessory olfactory bulb as well as other centres of the brain such as the anterior part of the hypothalamus. Its presence in many animals has been widely studied and the importance of the vomeronasal system to the role of reproduction and social behavior (through influence on anterior hypothalamus) has been shown in many studies. Its presence and functionality in humans is widely controversial, though most studies agree the organ regresses during fetal development. [WP,unvetted]." [Wikipedia:Vomeronasal_organ]	196118	\N	\N	uberon	0	EFO	olfactory apparatus	vomeronasal organ
UBERON:0002298	\N	efo_slim,loose_concept,uberon_slim,vertebrate_core	"Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,adopted]." [ISBN10:0471888893, Wikipedia:Brainstem, ZFA:0001707]	UBERON:0002298	"Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,adopted]." [ISBN10:0471888893, Wikipedia:Brainstem, ZFA:0001707]	79871	\N	efo_slim,loose_concept,uberon_slim,vertebrate_core	uberon	0	EFO	brainstem	brainstem
EFO:0000787	\N	efo_slim,loose_concept,uberon_slim,vertebrate_core	"" []	UBERON:0002298	"Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,adopted]." [ISBN10:0471888893, Wikipedia:Brainstem, ZFA:0001707]	196121	\N	\N	uberon	0	EFO	animal component	brainstem
UBERON:0002314	\N	efo_slim,uberon_slim	"The dorsal part of the midbrain including the corpora quadrigemina." []	UBERON:0002314	"The dorsal part of the midbrain including the corpora quadrigemina." []	79874	\N	efo_slim,uberon_slim	uberon	0	EFO	midbrain tectum	midbrain tectum
UBERON:0000955	UBERON:0002314	efo_slim,uberon_slim	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	UBERON:0002314	"The dorsal part of the midbrain including the corpora quadrigemina." []	225332	efo_slim,uberon_slim	efo_slim,major_organ,uberon_slim,vertebrate_core	uberon	1	EFO	brain	midbrain tectum
UBERON:0002331	\N	efo_slim,uberon_slim	"The connecting cord from the developing embryo or fetus to the placenta. During prenatal development, the umbilical cord comes from the same zygote as the fetus and (in humans) normally contains two arteries (the umbilical arteries) and one vein (the umbilical vein), buried within Wharton's jelly. The umbilical vein supplies the fetus with oxygenated, nutrient-rich blood from the placenta. Conversely, the umbilical arteries return the deoxygenated, nutrient-depleted blood[WP]." [Wikipedia:Umbilical_cord]	UBERON:0002331	"The connecting cord from the developing embryo or fetus to the placenta. During prenatal development, the umbilical cord comes from the same zygote as the fetus and (in humans) normally contains two arteries (the umbilical arteries) and one vein (the umbilical vein), buried within Wharton's jelly. The umbilical vein supplies the fetus with oxygenated, nutrient-rich blood from the placenta. Conversely, the umbilical arteries return the deoxygenated, nutrient-depleted blood[WP]." [Wikipedia:Umbilical_cord]	79875	\N	efo_slim,uberon_slim	uberon	0	EFO	umbilical cord	umbilical cord
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002331	"The connecting cord from the developing embryo or fetus to the placenta. During prenatal development, the umbilical cord comes from the same zygote as the fetus and (in humans) normally contains two arteries (the umbilical arteries) and one vein (the umbilical vein), buried within Wharton's jelly. The umbilical vein supplies the fetus with oxygenated, nutrient-rich blood from the placenta. Conversely, the umbilical arteries return the deoxygenated, nutrient-depleted blood[WP]." [Wikipedia:Umbilical_cord]	196124	\N	\N	uberon	0	EFO	animal component	umbilical cord
UBERON:0002333	\N	efo_slim,uberon_slim,vessel_or_tree	"Pulmonary arterial trunk which is continuous with the right ventricle.[FMA]" [FMA:FMA, Wikipedia:Pulmonary_artery]	UBERON:0002333	"Pulmonary arterial trunk which is continuous with the right ventricle.[FMA]" [FMA:FMA, Wikipedia:Pulmonary_artery]	79876	\N	efo_slim,uberon_slim,vessel_or_tree	uberon	0	EFO	pulmonary trunk	pulmonary trunk
UBERON:0001637	UBERON:0002333	efo_slim,uberon_slim,vessel_or_tree	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0002333	"Pulmonary arterial trunk which is continuous with the right ventricle.[FMA]" [FMA:FMA, Wikipedia:Pulmonary_artery]	225333	efo_slim,uberon_slim,vessel_or_tree	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	pulmonary trunk
UBERON:0001981	UBERON:0001637	efo_slim,uberon_slim,vessel_or_tree	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0002333	"Pulmonary arterial trunk which is continuous with the right ventricle.[FMA]" [FMA:FMA, Wikipedia:Pulmonary_artery]	582162	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	pulmonary trunk
UBERON:0002336	\N	efo_slim,uberon_slim	"The corpus callosum is a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres. It consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres[GO]." [Wikipedia:Corpus_callosum]	UBERON:0002336	"The corpus callosum is a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres. It consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres[GO]." [Wikipedia:Corpus_callosum]	79877	\N	efo_slim,uberon_slim	uberon	0	EFO	corpus callosum	corpus callosum
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002336	"The corpus callosum is a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres. It consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres[GO]." [Wikipedia:Corpus_callosum]	196125	\N	\N	uberon	0	EFO	animal component	corpus callosum
UBERON:0002345	\N	efo_slim	"the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest." [MP:0009868]	UBERON:0002345	"the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest." [MP:0009868]	79878	\N	efo_slim	uberon	0	EFO	descending thoracic aorta	descending thoracic aorta
EFO:0000787	\N	efo_slim	"" []	UBERON:0002345	"the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest." [MP:0009868]	196126	\N	\N	uberon	0	EFO	animal component	descending thoracic aorta
UBERON:0002349	\N	efo_slim,uberon_slim,vertebrate_core	"middle muscular layer of the heart wall[M-W]. Muscle layer of organ which has as its parts the myocardium proper and the conducting system of the heart[FMA]." [Wikipedia:Myocardium]	UBERON:0002349	"middle muscular layer of the heart wall[M-W]. Muscle layer of organ which has as its parts the myocardium proper and the conducting system of the heart[FMA]." [Wikipedia:Myocardium]	79879	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	myocardium	myocardium
EFO:0001955	\N	efo_slim,uberon_slim,vertebrate_core	"A heart component is an animal component that is part of some heart." []	UBERON:0002349	"middle muscular layer of the heart wall[M-W]. Muscle layer of organ which has as its parts the myocardium proper and the conducting system of the heart[FMA]." [Wikipedia:Myocardium]	196127	\N	\N	uberon	0	EFO	heart component	myocardium
UBERON:0002352	\N	efo_slim,uberon_slim,vertebrate_core	"Subdivision of conducting system of heart which is located in the muscular part of the interatrial septum that is continuous with the atrioventricular bundle.[FMA]" [FMA:FMA, Wikipedia:Atrioventricular_node]	UBERON:0002352	"Subdivision of conducting system of heart which is located in the muscular part of the interatrial septum that is continuous with the atrioventricular bundle.[FMA]" [FMA:FMA, Wikipedia:Atrioventricular_node]	79881	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	atrioventricular node	atrioventricular node
EFO:0001955	\N	efo_slim,uberon_slim,vertebrate_core	"A heart component is an animal component that is part of some heart." []	UBERON:0002352	"Subdivision of conducting system of heart which is located in the muscular part of the interatrial septum that is continuous with the atrioventricular bundle.[FMA]" [FMA:FMA, Wikipedia:Atrioventricular_node]	196128	\N	\N	uberon	0	EFO	heart component	atrioventricular node
UBERON:0002355	\N	efo_slim,uberon_slim	"Subdivision of abdomen, which is demarcated from the abdomen proper by the plane of the superior pelvic aperture, and from the perineum by the inferior surface of the pelvic diaphragm; together with the abdomen proper, it constitutes the abdomen[FMA]." [FMA:9578, Wikipedia:Pelvis]	UBERON:0002355	"Subdivision of abdomen, which is demarcated from the abdomen proper by the plane of the superior pelvic aperture, and from the perineum by the inferior surface of the pelvic diaphragm; together with the abdomen proper, it constitutes the abdomen[FMA]." [FMA:9578, Wikipedia:Pelvis]	79882	\N	efo_slim,uberon_slim	uberon	0	EFO	pelvis	pelvis
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002355	"Subdivision of abdomen, which is demarcated from the abdomen proper by the plane of the superior pelvic aperture, and from the perineum by the inferior surface of the pelvic diaphragm; together with the abdomen proper, it constitutes the abdomen[FMA]." [FMA:9578, Wikipedia:Pelvis]	196129	\N	\N	uberon	0	EFO	animal component	pelvis
UBERON:0002356	\N	efo_slim,uberon_slim	"Subdivision of trunk proper, which is demarcated from the pelvis by the inferior surface of the pelvic diaphragm and from the lower limbs by the perineofemoral lines; together with the thorax, abdomen, and pelvis, it constitutes the trunk[FMA]." [FMA:9579, Wikipedia:Perineum]	UBERON:0002356	"Subdivision of trunk proper, which is demarcated from the pelvis by the inferior surface of the pelvic diaphragm and from the lower limbs by the perineofemoral lines; together with the thorax, abdomen, and pelvis, it constitutes the trunk[FMA]." [FMA:9579, Wikipedia:Perineum]	79883	\N	efo_slim,uberon_slim	uberon	0	EFO	perineum	perineum
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002356	"Subdivision of trunk proper, which is demarcated from the pelvis by the inferior surface of the pelvic diaphragm and from the lower limbs by the perineofemoral lines; together with the thorax, abdomen, and pelvis, it constitutes the trunk[FMA]." [FMA:9579, Wikipedia:Perineum]	196130	\N	\N	uberon	0	EFO	animal component	perineum
UBERON:0002360	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"Membrane organ that surrounds the brain and the spinal cord." [FMA:9589, http://www.shsu.edu/~bio_mlt/Chap15.html, Wikipedia:Meninx]	UBERON:0002360	"Membrane organ that surrounds the brain and the spinal cord." [FMA:9589, http://www.shsu.edu/~bio_mlt/Chap15.html, Wikipedia:Meninx]	79885	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	meninx	meninx
UBERON:0000955	UBERON:0002360	efo_slim,organ_slim,uberon_slim,vertebrate_core	"The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." [Wikipedia:Brain]	UBERON:0002360	"Membrane organ that surrounds the brain and the spinal cord." [FMA:9589, http://www.shsu.edu/~bio_mlt/Chap15.html, Wikipedia:Meninx]	225334	efo_slim,organ_slim,uberon_slim,vertebrate_core	efo_slim,major_organ,uberon_slim,vertebrate_core	uberon	1	EFO	brain	meninx
UBERON:0002367	\N	efo_slim,major_organ,organ_slim,uberon_slim	"The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid." [GO:0030850, Wikipedia:Prostate]	UBERON:0002367	"The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid." [GO:0030850, Wikipedia:Prostate]	79886	\N	efo_slim,major_organ,organ_slim,uberon_slim	uberon	0	EFO	prostate gland	prostate gland
UBERON:0002530	UBERON:0002367	efo_slim,major_organ,organ_slim,uberon_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0002367	"The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid." [GO:0030850, Wikipedia:Prostate]	225335	efo_slim,major_organ,organ_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	gland	prostate gland
UBERON:0002370	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop." [NLM:thymus, Wikipedia:Thymus]	UBERON:0002370	"Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop." [NLM:thymus, Wikipedia:Thymus]	79887	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	thymus	thymus
UBERON:6007435	\N	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0002370	"Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop." [NLM:thymus, Wikipedia:Thymus]	196131	\N	\N	uberon	0	EFO	endocrine system component	thymus
UBERON:0002530	UBERON:0002370	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0002370	"Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop." [NLM:thymus, Wikipedia:Thymus]	225336	efo_slim,major_organ,organ_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim	uberon	1	EFO	gland	thymus
UBERON:0002371	\N	efo_slim,uberon_slim	"flexible tissue found in the hollow interior of bones. In adults, marrow in large bones produces new blood cells[WP]." [Wikipedia:Bone_marrow]	UBERON:0002371	"flexible tissue found in the hollow interior of bones. In adults, marrow in large bones produces new blood cells[WP]." [Wikipedia:Bone_marrow]	79888	\N	efo_slim,uberon_slim	uberon	0	EFO	bone marrow	bone marrow
EFO:0003858	\N	efo_slim,uberon_slim	"" []	UBERON:0002371	"flexible tissue found in the hollow interior of bones. In adults, marrow in large bones produces new blood cells[WP]." [Wikipedia:Bone_marrow]	196132	\N	\N	uberon	0	EFO	skeleton structure	bone marrow
UBERON:0002372	\N	efo_slim,uberon_slim	"Portion of lymphoid tissue on either side of the throat." [Wikipedia:Tonsil]	UBERON:0002372	"Portion of lymphoid tissue on either side of the throat." [Wikipedia:Tonsil]	79889	\N	efo_slim,uberon_slim	uberon	0	EFO	tonsil	tonsil
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002372	"Portion of lymphoid tissue on either side of the throat." [Wikipedia:Tonsil]	196133	\N	\N	uberon	0	EFO	animal component	tonsil
UBERON:0002373	\N	efo_slim,uberon_slim	"tonsils on the left and right sides at the back of the throat. one of the mucosa-associated lymphoid tissues (MALT), located at the entrance to the upper respiratory and gastrointestinal tracts to protect the body from the entry of exogenous material through mucosal sites[WP]." [Wikipedia:Palatine_tonsil]	UBERON:0002373	"tonsils on the left and right sides at the back of the throat. one of the mucosa-associated lymphoid tissues (MALT), located at the entrance to the upper respiratory and gastrointestinal tracts to protect the body from the entry of exogenous material through mucosal sites[WP]." [Wikipedia:Palatine_tonsil]	79890	\N	efo_slim,uberon_slim	uberon	0	EFO	palatine tonsil	palatine tonsil
UBERON:0002372	UBERON:0002373	efo_slim,uberon_slim	"Portion of lymphoid tissue on either side of the throat." [Wikipedia:Tonsil]	UBERON:0002373	"tonsils on the left and right sides at the back of the throat. one of the mucosa-associated lymphoid tissues (MALT), located at the entrance to the upper respiratory and gastrointestinal tracts to protect the body from the entry of exogenous material through mucosal sites[WP]." [Wikipedia:Palatine_tonsil]	225337	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	tonsil	palatine tonsil
UBERON:0002374	\N	efo_slim,uberon_slim	"A bone that is part of the metacarpal skeleton." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Metacarpal_bone]	UBERON:0002374	"A bone that is part of the metacarpal skeleton." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Metacarpal_bone]	79891	\N	efo_slim,uberon_slim	uberon	0	EFO	metacarpal bone	metacarpal bone
UBERON:0003464	\N	efo_slim,uberon_slim	"The bones of the upper and lower LEG. They include the PELVIC BONES." []	UBERON:0002374	"A bone that is part of the metacarpal skeleton." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Metacarpal_bone]	196134	\N	\N	uberon	0	EFO	bone of lower extremity	metacarpal bone
UBERON:0002376	\N	efo_slim,uberon_slim,vertebrate_core	"Any muscle that is part of a head[Automatically generated definition]." [OBOL:automatic]	UBERON:0002376	"Any muscle that is part of a head[Automatically generated definition]." [OBOL:automatic]	79892	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	muscle of head	muscle of head
EFO:0003331	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002376	"Any muscle that is part of a head[Automatically generated definition]." [OBOL:automatic]	196135	\N	\N	uberon	0	EFO	zebrafish component	muscle of head
UBERON:0002391	\N	efo_slim,uberon_slim	"Transudate contained in the lumen of lymphatic vessel[FMA]. Lymph is the fluid that is formed when interstitial fluid enters the conduits of the lymphatic system[WP]." [FMA:9671, Wikipedia:Lymph]	UBERON:0002391	"Transudate contained in the lumen of lymphatic vessel[FMA]. Lymph is the fluid that is formed when interstitial fluid enters the conduits of the lymphatic system[WP]." [FMA:9671, Wikipedia:Lymph]	79897	\N	efo_slim,uberon_slim	uberon	0	EFO	lymph	lymph
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002391	"Transudate contained in the lumen of lymphatic vessel[FMA]. Lymph is the fluid that is formed when interstitial fluid enters the conduits of the lymphatic system[WP]." [FMA:9671, Wikipedia:Lymph]	196137	\N	\N	uberon	0	EFO	animal component	lymph
UBERON:0002407	\N	efo_slim,uberon_slim,vertebrate_core	"The outer membrane/wall of the developing heart, surrounding the myocardium." [Wikipedia:Pericardium]	UBERON:0002407	"The outer membrane/wall of the developing heart, surrounding the myocardium." [Wikipedia:Pericardium]	79900	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	pericardium	pericardium
EFO:0001955	\N	efo_slim,uberon_slim,vertebrate_core	"A heart component is an animal component that is part of some heart." []	UBERON:0002407	"The outer membrane/wall of the developing heart, surrounding the myocardium." [Wikipedia:Pericardium]	196138	\N	\N	uberon	0	EFO	heart component	pericardium
UBERON:0002412	\N	efo_slim,uberon_slim,vertebrate_core	"Irregular bone that articulates with other vertebrae, or with one other vertebra and the skull or the sacrum[FMA]. All serially repeated ossified, cartilaginous, and ligamentous elements around the notochord (Schultze and Arratia, 1988)[ZFA]." [FMA:9914, Wikipedia:Vertebra, ZFIN:curator]	UBERON:0002412	"Irregular bone that articulates with other vertebrae, or with one other vertebra and the skull or the sacrum[FMA]. All serially repeated ossified, cartilaginous, and ligamentous elements around the notochord (Schultze and Arratia, 1988)[ZFA]." [FMA:9914, Wikipedia:Vertebra, ZFIN:curator]	79901	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	vertebra	vertebra
EFO:0003858	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002412	"Irregular bone that articulates with other vertebrae, or with one other vertebra and the skull or the sacrum[FMA]. All serially repeated ossified, cartilaginous, and ligamentous elements around the notochord (Schultze and Arratia, 1988)[ZFA]." [FMA:9914, Wikipedia:Vertebra, ZFIN:curator]	196139	\N	\N	uberon	0	EFO	skeleton structure	vertebra
UBERON:0002415	\N	efo_slim,grouping_class,uberon_slim	"section at the rear end of an animal's body; in general, the term refers to a distinct, flexible appendage to the torso[WP]." [ISBN:0471209627, OMD:tail, Wikipedia:Tail, ZFIN:curator]	UBERON:0002415	"section at the rear end of an animal's body; in general, the term refers to a distinct, flexible appendage to the torso[WP]." [ISBN:0471209627, OMD:tail, Wikipedia:Tail, ZFIN:curator]	79902	\N	efo_slim,grouping_class,uberon_slim	uberon	0	EFO	tail	tail
EFO:0000787	\N	efo_slim,grouping_class,uberon_slim	"" []	UBERON:0002415	"section at the rear end of an animal's body; in general, the term refers to a distinct, flexible appendage to the torso[WP]." [ISBN:0471209627, OMD:tail, Wikipedia:Tail, ZFIN:curator]	196140	\N	\N	uberon	0	EFO	animal component	tail
UBERON:0002416	\N	efo_slim,grouping_class	"organ system that protects the body from damage, comprising the skin and its adnexa (including hair, scales, and nails). The integumentary system has a variety of functions; it may serve to waterproof, cushion and protect the deeper tissues, excrete wastes, regulate temperature and is the location of receptors for pain, sensation, pressure and temperature. In humans the integumentary system additionally provides vitamin D synthesis[WP]." [Wikipedia:Integumentary_system]	UBERON:0002416	"organ system that protects the body from damage, comprising the skin and its adnexa (including hair, scales, and nails). The integumentary system has a variety of functions; it may serve to waterproof, cushion and protect the deeper tissues, excrete wastes, regulate temperature and is the location of receptors for pain, sensation, pressure and temperature. In humans the integumentary system additionally provides vitamin D synthesis[WP]." [Wikipedia:Integumentary_system]	79903	\N	efo_slim,grouping_class	uberon	0	EFO	integumental system	integumental system
UBERON:0000467	\N	efo_slim,grouping_class	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0002416	"organ system that protects the body from damage, comprising the skin and its adnexa (including hair, scales, and nails). The integumentary system has a variety of functions; it may serve to waterproof, cushion and protect the deeper tissues, excrete wastes, regulate temperature and is the location of receptors for pain, sensation, pressure and temperature. In humans the integumentary system additionally provides vitamin D synthesis[WP]." [Wikipedia:Integumentary_system]	196141	\N	\N	uberon	0	EFO	anatomical system	integumental system
UBERON:0002420	\N	efo_slim,uberon_slim	"one of a group of nuclei in the brains of vertebrates, situated at the base of the forebrain and strongly connected with the cerebral cortex, thalamus and other areas.ganglion in the head. The main components of the basal ganglia are the striatum, pallidum, substantia nigra, and subthalamic nucleus[WP]. Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum[NIF]." [Wikipedia:Basal_ganglia]	UBERON:0002420	"one of a group of nuclei in the brains of vertebrates, situated at the base of the forebrain and strongly connected with the cerebral cortex, thalamus and other areas.ganglion in the head. The main components of the basal ganglia are the striatum, pallidum, substantia nigra, and subthalamic nucleus[WP]. Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum[NIF]." [Wikipedia:Basal_ganglia]	79904	\N	efo_slim,uberon_slim	uberon	0	EFO	basal ganglion	basal ganglion
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002420	"one of a group of nuclei in the brains of vertebrates, situated at the base of the forebrain and strongly connected with the cerebral cortex, thalamus and other areas.ganglion in the head. The main components of the basal ganglia are the striatum, pallidum, substantia nigra, and subthalamic nucleus[WP]. Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum[NIF]." [Wikipedia:Basal_ganglia]	196142	\N	\N	uberon	0	EFO	animal component	basal ganglion
UBERON:0002423	\N	efo_slim,uberon_slim,vertebrate_core	"The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins. The parts are: liver, bile duct, gall bladder and hepatic duct" [GO:0061008, Wikipedia:Hepatobiliary_system]	UBERON:0002423	"The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins. The parts are: liver, bile duct, gall bladder and hepatic duct" [GO:0061008, Wikipedia:Hepatobiliary_system]	79906	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	hepatobiliary system	hepatobiliary system
UBERON:0000467	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0002423	"The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins. The parts are: liver, bile duct, gall bladder and hepatic duct" [GO:0061008, Wikipedia:Hepatobiliary_system]	196143	\N	\N	uberon	0	EFO	anatomical system	hepatobiliary system
UBERON:0002428	\N	efo_slim	"A bone that is part of a limb [Automatically generated definition]." [OBOL:automatic]	UBERON:0002428	"A bone that is part of a limb [Automatically generated definition]." [OBOL:automatic]	79907	\N	efo_slim	uberon	0	EFO	limb bone	limb bone
EFO:0003858	\N	efo_slim	"" []	UBERON:0002428	"A bone that is part of a limb [Automatically generated definition]." [OBOL:automatic]	196144	\N	\N	uberon	0	EFO	skeleton structure	limb bone
UBERON:0002469	\N	\N	"A mucosa that is part of a esophagus [Automatically generated definition]." []	UBERON:0002469	"A mucosa that is part of a esophagus [Automatically generated definition]." []	79908	\N	\N	uberon	0	EFO	esophagus mucosa	esophagus mucosa
UBERON:0000344	UBERON:0002469	\N	"A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP]" []	UBERON:0002469	"A mucosa that is part of a esophagus [Automatically generated definition]." []	225338	\N	\N	uberon	1	EFO	mucosa	esophagus mucosa
UBERON:0002471	\N	efo_slim,uberon_slim	"The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus)." [PHENOSCAPE:curators]	UBERON:0002471	"The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus)." [PHENOSCAPE:curators]	79909	\N	efo_slim,uberon_slim	uberon	0	EFO	zeugopod	zeugopod
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002471	"The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus)." [PHENOSCAPE:curators]	196145	\N	\N	uberon	0	EFO	animal component	zeugopod
UBERON:0002472	\N	efo_slim,uberon_slim	"The proximal free limb segment. Includes as parts the stylopod skeleton." []	UBERON:0002472	"The proximal free limb segment. Includes as parts the stylopod skeleton." []	79910	\N	efo_slim,uberon_slim	uberon	0	EFO	stylopod	stylopod
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002472	"The proximal free limb segment. Includes as parts the stylopod skeleton." []	196146	\N	\N	uberon	0	EFO	animal component	stylopod
UBERON:0002518	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"saccule or utricle." [Wikipedia:Otolith_organ]	UBERON:0002518	"saccule or utricle." [Wikipedia:Otolith_organ]	79912	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	uberon	0	EFO	otolith organ	otolith organ
EFO:0003331	\N	efo_slim,organ_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002518	"saccule or utricle." [Wikipedia:Otolith_organ]	196148	\N	\N	uberon	0	EFO	zebrafish component	otolith organ
UBERON:0002524	\N	efo_slim	"A lymph node that is part of a mediastinum. Each consists of several lymph node groups, especially along the trachea (5 groups), along the esophagus and between the lung and the diaphragm. In the mediastinal lymph nodes arises lymphatic ducts, which draines the lymph to the left subclavian vein (to the venous angle in the confluence of the subclavian and deep jugular veins). The mediastinal lymph nodes along the esophagus are in tight connection with the abdominal lymph nodes along the esophagus and the stomach. That fact facilitates spreading of tumors cells through these lymphatics in cases of cancers of the stomach and particularly of the esophagus. Through the mediastinum, the main lymphatic drainage from the abdominal organs goes via the thoracic duct (ductus thoracicus), which drains majority of the lymph from the abdomen to the above mentioned left venous angle." [OBOL:automatic, Wikipedia:Lymph_node#Lymph_nodes_of_the_thorax]	UBERON:0002524	"A lymph node that is part of a mediastinum. Each consists of several lymph node groups, especially along the trachea (5 groups), along the esophagus and between the lung and the diaphragm. In the mediastinal lymph nodes arises lymphatic ducts, which draines the lymph to the left subclavian vein (to the venous angle in the confluence of the subclavian and deep jugular veins). The mediastinal lymph nodes along the esophagus are in tight connection with the abdominal lymph nodes along the esophagus and the stomach. That fact facilitates spreading of tumors cells through these lymphatics in cases of cancers of the stomach and particularly of the esophagus. Through the mediastinum, the main lymphatic drainage from the abdominal organs goes via the thoracic duct (ductus thoracicus), which drains majority of the lymph from the abdomen to the above mentioned left venous angle." [OBOL:automatic, Wikipedia:Lymph_node#Lymph_nodes_of_the_thorax]	79913	\N	efo_slim	uberon	0	EFO	mediastinal lymph node	mediastinal lymph node
UBERON:0000029	UBERON:0002524	efo_slim	"Oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system. Lymph nodes are garrisons of B, T, and other immune cells. Lymph nodes are found all through the body, and act as filters or traps for foreign particles. They contain white blood cells that use oxygen to process. Thus they are important in the proper functioning of the immune system. The lymph node is surrounded by a fibrous capsule, and inside the lymph node the fibrous capsule extends to form trabeculae. The substance of the lymph node is divided into the outer cortex and the inner medulla surrounded by the former all around except for at the hilum, where the medulla comes in direct contact with the surface. Thin reticular fibers, elastin and reticular fibers form a supporting meshwork called reticular network (RN) inside the node, within which the white blood cells (WBCs), most prominently, lymphocytes are tightly packed as follicles in the cortex. Elsewhere, there are only occasional WBCs. The RN provides not just the structural support, but also provide surface for adhesion of the dendritic cells, macrophages and lymphocytes. It allows for exchange of material with blood through the high endothelial venules and provides the growth and regulatory factors necessary for activation and maturation of immune cells[WP]." [GAID:947, Wikipedia:Lymph_node]	UBERON:0002524	"A lymph node that is part of a mediastinum. Each consists of several lymph node groups, especially along the trachea (5 groups), along the esophagus and between the lung and the diaphragm. In the mediastinal lymph nodes arises lymphatic ducts, which draines the lymph to the left subclavian vein (to the venous angle in the confluence of the subclavian and deep jugular veins). The mediastinal lymph nodes along the esophagus are in tight connection with the abdominal lymph nodes along the esophagus and the stomach. That fact facilitates spreading of tumors cells through these lymphatics in cases of cancers of the stomach and particularly of the esophagus. Through the mediastinum, the main lymphatic drainage from the abdominal organs goes via the thoracic duct (ductus thoracicus), which drains majority of the lymph from the abdomen to the above mentioned left venous angle." [OBOL:automatic, Wikipedia:Lymph_node#Lymph_nodes_of_the_thorax]	225339	efo_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	lymph node	mediastinal lymph node
UBERON:0002530	\N	efo_slim,uberon_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0002530	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	79914	\N	efo_slim,uberon_slim	uberon	0	EFO	gland	gland
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002530	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	196149	\N	\N	uberon	0	EFO	animal component	gland
UBERON:0002533	\N	efo_slim,uberon_slim,vertebrate_core	"The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node." [BTO:0001445]	UBERON:0002533	"The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node." [BTO:0001445]	79916	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	tail bud	tail bud
EFO:0000787	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0002533	"The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node." [BTO:0001445]	196150	\N	\N	uberon	0	EFO	animal component	tail bud
UBERON:0002537	\N	efo_slim	"a gonad with both testicular and ovarian aspects[WP]." [Wikipedia:Ovotestis]	UBERON:0002537	"a gonad with both testicular and ovarian aspects[WP]." [Wikipedia:Ovotestis]	79918	\N	efo_slim	uberon	0	EFO	hermaphrodite gonad	hermaphrodite gonad
EFO:0000787	\N	efo_slim	"" []	UBERON:0002537	"a gonad with both testicular and ovarian aspects[WP]." [Wikipedia:Ovotestis]	196152	\N	\N	uberon	0	EFO	animal component	hermaphrodite gonad
UBERON:0002538	\N	efo_slim,uberon_slim	"The cells of the hatching gland contain enzymes responsible for solubilization of the egg chorion, facilitating the hatching process[GO]. A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [ZFIN:curator]	UBERON:0002538	"The cells of the hatching gland contain enzymes responsible for solubilization of the egg chorion, facilitating the hatching process[GO]. A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [ZFIN:curator]	79919	\N	efo_slim,uberon_slim	uberon	0	EFO	hatching gland	hatching gland
UBERON:0002050	UBERON:0002538	efo_slim,uberon_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0002538	"The cells of the hatching gland contain enzymes responsible for solubilization of the egg chorion, facilitating the hatching process[GO]. A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [ZFIN:curator]	225340	efo_slim,uberon_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	hatching gland
UBERON:0002530	UBERON:0002538	efo_slim,uberon_slim	"A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]." [Wikipedia:Gland]	UBERON:0002538	"The cells of the hatching gland contain enzymes responsible for solubilization of the egg chorion, facilitating the hatching process[GO]. A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [ZFIN:curator]	225341	efo_slim,uberon_slim	efo_slim,uberon_slim	uberon	1	EFO	gland	hatching gland
UBERON:0002539	\N	efo_slim,uberon_slim,vertebrate_core	"One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches" [NLM:branchial+arch, PMID:16313389, Wikipedia:Pharyngeal_arch]	UBERON:0002539	"One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches" [NLM:branchial+arch, PMID:16313389, Wikipedia:Pharyngeal_arch]	79920	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	pharyngeal arch	pharyngeal arch
UBERON:0002050	UBERON:0002539	efo_slim,uberon_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0002539	"One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches" [NLM:branchial+arch, PMID:16313389, Wikipedia:Pharyngeal_arch]	225342	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	pharyngeal arch
UBERON:0002540	\N	efo_slim,uberon_slim	"a line of neuroblasts along the sides of fish and amphibia that detect vibrations and pressure changes." [ISBN:0471209627, ISBN:0815318960, Wikipedia:Lateral_line_system]	UBERON:0002540	"a line of neuroblasts along the sides of fish and amphibia that detect vibrations and pressure changes." [ISBN:0471209627, ISBN:0815318960, Wikipedia:Lateral_line_system]	79921	\N	efo_slim,uberon_slim	uberon	0	EFO	lateral line system	lateral line system
UBERON:0001032	UBERON:0002540	efo_slim,uberon_slim	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	UBERON:0002540	"a line of neuroblasts along the sides of fish and amphibia that detect vibrations and pressure changes." [ISBN:0471209627, ISBN:0815318960, Wikipedia:Lateral_line_system]	225343	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	sensory system	lateral line system
UBERON:0002541	\N	early_development,efo_slim	"The thickend rim of the blastoderm evident during late blastula and gastrula stages[FishBase]. Embryonic structure which is a uniform thickened annulus at the blastoderm margin, consisting  of two layers in addition to the EVL, the epiblast and the hypoblast.  The germ ring is formed by the involution of the blastoderm back upon itself[ZFA]" [http://www.fishbase.org/glossary/Glossary.php?q=germ%20ring]	UBERON:0002541	"The thickend rim of the blastoderm evident during late blastula and gastrula stages[FishBase]. Embryonic structure which is a uniform thickened annulus at the blastoderm margin, consisting  of two layers in addition to the EVL, the epiblast and the hypoblast.  The germ ring is formed by the involution of the blastoderm back upon itself[ZFA]" [http://www.fishbase.org/glossary/Glossary.php?q=germ%20ring]	79922	\N	early_development,efo_slim	uberon	0	EFO	germ ring	germ ring
EFO:0003332	\N	early_development,efo_slim	"" []	UBERON:0002541	"The thickend rim of the blastoderm evident during late blastula and gastrula stages[FishBase]. Embryonic structure which is a uniform thickened annulus at the blastoderm margin, consisting  of two layers in addition to the EVL, the epiblast and the hypoblast.  The germ ring is formed by the involution of the blastoderm back upon itself[ZFA]" [http://www.fishbase.org/glossary/Glossary.php?q=germ%20ring]	196153	\N	\N	uberon	0	EFO	zebrafish embryonic structure	germ ring
UBERON:0002050	UBERON:0002541	early_development,efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0002541	"The thickend rim of the blastoderm evident during late blastula and gastrula stages[FishBase]. Embryonic structure which is a uniform thickened annulus at the blastoderm margin, consisting  of two layers in addition to the EVL, the epiblast and the hypoblast.  The germ ring is formed by the involution of the blastoderm back upon itself[ZFA]" [http://www.fishbase.org/glossary/Glossary.php?q=germ%20ring]	225344	early_development,efo_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	germ ring
UBERON:0002542	\N	efo_slim,grouping_class	"A small rigid plate that grows out of an animal's skin to provide protection. In lepidopteran (butterfly and moth) species, scales are plates on the surface of the insect wing, and provide coloration. Scales are quite common and have evolved multiple times with varying structure and function." [Wikipedia:Scale_(zoology)]	UBERON:0002542	"A small rigid plate that grows out of an animal's skin to provide protection. In lepidopteran (butterfly and moth) species, scales are plates on the surface of the insect wing, and provide coloration. Scales are quite common and have evolved multiple times with varying structure and function." [Wikipedia:Scale_(zoology)]	79923	\N	efo_slim,grouping_class	uberon	0	EFO	scale	scale
EFO:0000787	\N	efo_slim,grouping_class	"" []	UBERON:0002542	"A small rigid plate that grows out of an animal's skin to provide protection. In lepidopteran (butterfly and moth) species, scales are plates on the surface of the insect wing, and provide coloration. Scales are quite common and have evolved multiple times with varying structure and function." [Wikipedia:Scale_(zoology)]	196154	\N	\N	uberon	0	EFO	animal component	scale
UBERON:0002544	\N	efo_slim,uberon_slim	"one of several most distal parts of a limb, such as fingers or toes, present in many vertebrates[WP]." [Wikipedia:Digit_(anatomy)]	UBERON:0002544	"one of several most distal parts of a limb, such as fingers or toes, present in many vertebrates[WP]." [Wikipedia:Digit_(anatomy)]	79924	\N	efo_slim,uberon_slim	uberon	0	EFO	digit	digit
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002544	"one of several most distal parts of a limb, such as fingers or toes, present in many vertebrates[WP]." [Wikipedia:Digit_(anatomy)]	196155	\N	\N	uberon	0	EFO	animal component	digit
UBERON:0002581	\N	efo_slim,uberon_slim	"The lateral postcentral gyrus is a prominent structure in the parietal lobe of the human brain and an important landmark. It was initially defined from surface stimulation studies of Penfield, and parallel surface potential studies of Bard, Woolsey, and Marshall. Although initially defined to be roughly the same as Brodmann areas 3, 1 and 2, more recent work by Kaas has suggested that for homogeny with other sensory fields only area 3 should be referred to as 'primary somatosensory cortex', as it received the bulk of the thalamocortical projection from the sensory input fields. [WP,unvetted]." [Wikipedia:Postcentral_gyrus]	UBERON:0002581	"The lateral postcentral gyrus is a prominent structure in the parietal lobe of the human brain and an important landmark. It was initially defined from surface stimulation studies of Penfield, and parallel surface potential studies of Bard, Woolsey, and Marshall. Although initially defined to be roughly the same as Brodmann areas 3, 1 and 2, more recent work by Kaas has suggested that for homogeny with other sensory fields only area 3 should be referred to as 'primary somatosensory cortex', as it received the bulk of the thalamocortical projection from the sensory input fields. [WP,unvetted]." [Wikipedia:Postcentral_gyrus]	79925	\N	efo_slim,uberon_slim	uberon	0	EFO	postcentral gyrus	postcentral gyrus
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002581	"The lateral postcentral gyrus is a prominent structure in the parietal lobe of the human brain and an important landmark. It was initially defined from surface stimulation studies of Penfield, and parallel surface potential studies of Bard, Woolsey, and Marshall. Although initially defined to be roughly the same as Brodmann areas 3, 1 and 2, more recent work by Kaas has suggested that for homogeny with other sensory fields only area 3 should be referred to as 'primary somatosensory cortex', as it received the bulk of the thalamocortical projection from the sensory input fields. [WP,unvetted]." [Wikipedia:Postcentral_gyrus]	196156	\N	\N	uberon	0	EFO	animal component	postcentral gyrus
UBERON:0002623	\N	efo_slim,uberon_slim	"The cerebral peduncle, by most classifications, is everything in the mesencephalon except the tectum. The region includes the midbrain tegmentum, crus cerebri, substantia nigra and pretectum. By this definition, the cerebral peduncles are also known as the basis pedunculi, while the large ventral bundle of efferent fibers is referred to as the crus cerebri or the pes pedunculi There are numerous nerve tracts located within this section of the brainstem. Of note, in the cerebral peduncular loop fibers from motor areas of the brain project to the cerebral peduncle and then project to various thalamic nuclei. In as much as the peduncles are an anatomic landmark, for details regarding the function of this area interested readers are referred to the individual referenced articles. On a broad scale, though, this area contains many nerve tracts conveying motor information to and from the brain to the rest of the body. Important fibers running through the cerebral peduncles include the corticospinal tract and the corticobulbar tract, among others. [WP,unvetted]." [Wikipedia:Cerebral_peduncle]	UBERON:0002623	"The cerebral peduncle, by most classifications, is everything in the mesencephalon except the tectum. The region includes the midbrain tegmentum, crus cerebri, substantia nigra and pretectum. By this definition, the cerebral peduncles are also known as the basis pedunculi, while the large ventral bundle of efferent fibers is referred to as the crus cerebri or the pes pedunculi There are numerous nerve tracts located within this section of the brainstem. Of note, in the cerebral peduncular loop fibers from motor areas of the brain project to the cerebral peduncle and then project to various thalamic nuclei. In as much as the peduncles are an anatomic landmark, for details regarding the function of this area interested readers are referred to the individual referenced articles. On a broad scale, though, this area contains many nerve tracts conveying motor information to and from the brain to the rest of the body. Important fibers running through the cerebral peduncles include the corticospinal tract and the corticobulbar tract, among others. [WP,unvetted]." [Wikipedia:Cerebral_peduncle]	79926	\N	efo_slim,uberon_slim	uberon	0	EFO	cerebral peduncle	cerebral peduncle
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002623	"The cerebral peduncle, by most classifications, is everything in the mesencephalon except the tectum. The region includes the midbrain tegmentum, crus cerebri, substantia nigra and pretectum. By this definition, the cerebral peduncles are also known as the basis pedunculi, while the large ventral bundle of efferent fibers is referred to as the crus cerebri or the pes pedunculi There are numerous nerve tracts located within this section of the brainstem. Of note, in the cerebral peduncular loop fibers from motor areas of the brain project to the cerebral peduncle and then project to various thalamic nuclei. In as much as the peduncles are an anatomic landmark, for details regarding the function of this area interested readers are referred to the individual referenced articles. On a broad scale, though, this area contains many nerve tracts conveying motor information to and from the brain to the rest of the body. Important fibers running through the cerebral peduncles include the corticospinal tract and the corticobulbar tract, among others. [WP,unvetted]." [Wikipedia:Cerebral_peduncle]	196157	\N	\N	uberon	0	EFO	animal component	cerebral peduncle
UBERON:0002661	\N	efo_slim,uberon_slim	"The superior frontal gyrus makes up about one-third of the frontal lobe of the human brain. It is bounded laterally by the superior frontal sulcus. The superior frontal gyrus, like the inferior frontal gyrus and the middle frontal gyrus, is more of a region than a true gyrus. [WP,unvetted]." [Wikipedia:Superior_frontal_gyrus]	UBERON:0002661	"The superior frontal gyrus makes up about one-third of the frontal lobe of the human brain. It is bounded laterally by the superior frontal sulcus. The superior frontal gyrus, like the inferior frontal gyrus and the middle frontal gyrus, is more of a region than a true gyrus. [WP,unvetted]." [Wikipedia:Superior_frontal_gyrus]	79927	\N	efo_slim,uberon_slim	uberon	0	EFO	superior frontal gyrus	superior frontal gyrus
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002661	"The superior frontal gyrus makes up about one-third of the frontal lobe of the human brain. It is bounded laterally by the superior frontal sulcus. The superior frontal gyrus, like the inferior frontal gyrus and the middle frontal gyrus, is more of a region than a true gyrus. [WP,unvetted]." [Wikipedia:Superior_frontal_gyrus]	196158	\N	\N	uberon	0	EFO	animal component	superior frontal gyrus
UBERON:0002691	\N	efo_slim,uberon_slim	"The ventral tegmentum (tegmentum is Latin for covering), better known as the ventral tegmental area (VTA), is a group of neurons located close to the midline on the floor of the midbrain. The VTA, the origin of dopaminergic cell bodies that comprise the mesocorticolimbic dopamine system, is widely implicated in the drug and natural reward circuitry of the brain, cognition, motivation, drug addiction, and several psychiatric disorders. The VTA contains neurons that project to numerous areas of the brain, from the prefrontal cortex (PFC) to the caudal brainstem and everywhere in between. [WP,unvetted]." [Wikipedia:Ventral_tegmental_area]	UBERON:0002691	"The ventral tegmentum (tegmentum is Latin for covering), better known as the ventral tegmental area (VTA), is a group of neurons located close to the midline on the floor of the midbrain. The VTA, the origin of dopaminergic cell bodies that comprise the mesocorticolimbic dopamine system, is widely implicated in the drug and natural reward circuitry of the brain, cognition, motivation, drug addiction, and several psychiatric disorders. The VTA contains neurons that project to numerous areas of the brain, from the prefrontal cortex (PFC) to the caudal brainstem and everywhere in between. [WP,unvetted]." [Wikipedia:Ventral_tegmental_area]	79928	\N	efo_slim,uberon_slim	uberon	0	EFO	ventral tegmental area	ventral tegmental area
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002691	"The ventral tegmentum (tegmentum is Latin for covering), better known as the ventral tegmental area (VTA), is a group of neurons located close to the midline on the floor of the midbrain. The VTA, the origin of dopaminergic cell bodies that comprise the mesocorticolimbic dopamine system, is widely implicated in the drug and natural reward circuitry of the brain, cognition, motivation, drug addiction, and several psychiatric disorders. The VTA contains neurons that project to numerous areas of the brain, from the prefrontal cortex (PFC) to the caudal brainstem and everywhere in between. [WP,unvetted]." [Wikipedia:Ventral_tegmental_area]	196159	\N	\N	uberon	0	EFO	animal component	ventral tegmental area
UBERON:0002703	\N	efo_slim,uberon_slim	"The primary motor cortex (or M1) is a brain region that in humans is located in the posterior portion of the frontal lobe. It works in association with pre-motor areas to plan and execute movements. M1 contains large neurons known as Betz cells which send long axons down the spinal cord to synapse onto alpha motor neurons which connect to the muscles. Pre-motor areas are involved in planning actions (in concert with the basal ganglia) and refining movements based upon sensory input (this requires the cerebellum). [WP,unvetted]." [Wikipedia:Precentral_gyrus]	UBERON:0002703	"The primary motor cortex (or M1) is a brain region that in humans is located in the posterior portion of the frontal lobe. It works in association with pre-motor areas to plan and execute movements. M1 contains large neurons known as Betz cells which send long axons down the spinal cord to synapse onto alpha motor neurons which connect to the muscles. Pre-motor areas are involved in planning actions (in concert with the basal ganglia) and refining movements based upon sensory input (this requires the cerebellum). [WP,unvetted]." [Wikipedia:Precentral_gyrus]	79929	\N	efo_slim,uberon_slim	uberon	0	EFO	precentral gyrus	precentral gyrus
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002703	"The primary motor cortex (or M1) is a brain region that in humans is located in the posterior portion of the frontal lobe. It works in association with pre-motor areas to plan and execute movements. M1 contains large neurons known as Betz cells which send long axons down the spinal cord to synapse onto alpha motor neurons which connect to the muscles. Pre-motor areas are involved in planning actions (in concert with the basal ganglia) and refining movements based upon sensory input (this requires the cerebellum). [WP,unvetted]." [Wikipedia:Precentral_gyrus]	196160	\N	\N	uberon	0	EFO	animal component	precentral gyrus
UBERON:0002728	\N	efo_slim,uberon_slim	"Component of the temporal lobe on the mesial surface. The rostral and caudal boundaries of the entorhinal cortex are the rostral end of the collateral sulcus and the caudal end of the amygdala respectively. The medial boundary is the medial aspect of the temporal lobe and the lateral boundary is the collateral sulcus. (DK)." [NIF_GrossAnatomy:birnlex_1508, Wikipedia:Entorhinal_cortex]	UBERON:0002728	"Component of the temporal lobe on the mesial surface. The rostral and caudal boundaries of the entorhinal cortex are the rostral end of the collateral sulcus and the caudal end of the amygdala respectively. The medial boundary is the medial aspect of the temporal lobe and the lateral boundary is the collateral sulcus. (DK)." [NIF_GrossAnatomy:birnlex_1508, Wikipedia:Entorhinal_cortex]	79930	\N	efo_slim,uberon_slim	uberon	0	EFO	entorhinal area	entorhinal area
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002728	"Component of the temporal lobe on the mesial surface. The rostral and caudal boundaries of the entorhinal cortex are the rostral end of the collateral sulcus and the caudal end of the amygdala respectively. The medial boundary is the medial aspect of the temporal lobe and the lateral boundary is the collateral sulcus. (DK)." [NIF_GrossAnatomy:birnlex_1508, Wikipedia:Entorhinal_cortex]	196161	\N	\N	uberon	0	EFO	animal component	entorhinal area
UBERON:0002769	\N	efo_slim,uberon_slim	"A gyrus (plural gyri) is a bump or ridge on the surface of the brain. The superior temporal gyrus is one of three (sometimes two) gyri in the temporal lobe of the human brain. The superior temporal gyrus is bounded by: the lateral sulcus above; the superior temporal sulcus (not always present or visible) below; an imaginary line drawn from the preoccipital notch to the lateral sulcus posteriorly. The superior temporal gyrus contains several important structures of the brain, including: Brodmann areas 41 and 42, marking the location of the primary auditory cortex, the cortical region responsible for the sensation of sound; Wernicke's area, Brodmann 22p, an important region for the processing of speech so that it can be understood as language. [WP,unvetted]." [Wikipedia:Superior_temporal_gyrus]	UBERON:0002769	"A gyrus (plural gyri) is a bump or ridge on the surface of the brain. The superior temporal gyrus is one of three (sometimes two) gyri in the temporal lobe of the human brain. The superior temporal gyrus is bounded by: the lateral sulcus above; the superior temporal sulcus (not always present or visible) below; an imaginary line drawn from the preoccipital notch to the lateral sulcus posteriorly. The superior temporal gyrus contains several important structures of the brain, including: Brodmann areas 41 and 42, marking the location of the primary auditory cortex, the cortical region responsible for the sensation of sound; Wernicke's area, Brodmann 22p, an important region for the processing of speech so that it can be understood as language. [WP,unvetted]." [Wikipedia:Superior_temporal_gyrus]	79931	\N	efo_slim,uberon_slim	uberon	0	EFO	superior temporal gyrus	superior temporal gyrus
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002769	"A gyrus (plural gyri) is a bump or ridge on the surface of the brain. The superior temporal gyrus is one of three (sometimes two) gyri in the temporal lobe of the human brain. The superior temporal gyrus is bounded by: the lateral sulcus above; the superior temporal sulcus (not always present or visible) below; an imaginary line drawn from the preoccipital notch to the lateral sulcus posteriorly. The superior temporal gyrus contains several important structures of the brain, including: Brodmann areas 41 and 42, marking the location of the primary auditory cortex, the cortical region responsible for the sensation of sound; Wernicke's area, Brodmann 22p, an important region for the processing of speech so that it can be understood as language. [WP,unvetted]." [Wikipedia:Superior_temporal_gyrus]	196162	\N	\N	uberon	0	EFO	animal component	superior temporal gyrus
UBERON:0002771	\N	efo_slim,uberon_slim	"Middle temporal gyrus is a gyrus in the brain on the Temporal lobe. It is located between the superior temporal gyrus and inferior temporal gyrus. Its exact function is unknown, but it has been connected with processes as different as contemplating distance, recognition of known faces, and accessing word meaning while reading. [WP,unvetted]." [Wikipedia:Middle_temporal_gyrus]	UBERON:0002771	"Middle temporal gyrus is a gyrus in the brain on the Temporal lobe. It is located between the superior temporal gyrus and inferior temporal gyrus. Its exact function is unknown, but it has been connected with processes as different as contemplating distance, recognition of known faces, and accessing word meaning while reading. [WP,unvetted]." [Wikipedia:Middle_temporal_gyrus]	79932	\N	efo_slim,uberon_slim	uberon	0	EFO	middle temporal gyrus	middle temporal gyrus
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0002771	"Middle temporal gyrus is a gyrus in the brain on the Temporal lobe. It is located between the superior temporal gyrus and inferior temporal gyrus. Its exact function is unknown, but it has been connected with processes as different as contemplating distance, recognition of known faces, and accessing word meaning while reading. [WP,unvetted]." [Wikipedia:Middle_temporal_gyrus]	196163	\N	\N	uberon	0	EFO	animal component	middle temporal gyrus
UBERON:0002924	\N	efo_slim,uberon_slim	"The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina.  It is thought to develop from cranial neural crest." [PMID:15821344, Wikipedia:Terminal_nerve, ZFIN:ZDB-PUB-041202-1]	UBERON:0002924	"The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina.  It is thought to develop from cranial neural crest." [PMID:15821344, Wikipedia:Terminal_nerve, ZFIN:ZDB-PUB-041202-1]	79934	\N	efo_slim,uberon_slim	uberon	0	EFO	terminal nerve	terminal nerve
EFO:0003331	\N	efo_slim,uberon_slim	"" []	UBERON:0002924	"The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina.  It is thought to develop from cranial neural crest." [PMID:15821344, Wikipedia:Terminal_nerve, ZFIN:ZDB-PUB-041202-1]	196164	\N	\N	uberon	0	EFO	zebrafish component	terminal nerve
UBERON:0003027	\N	efo_slim,uberon_slim	"The cingulate cortex is a part of the brain situated in the medial aspect of the cortex. It is extended from the corpus callosum below to the cingulate sulcus above, at least anteriorly. [WP,unvetted]." [Wikipedia:Cingulate_cortex]	UBERON:0003027	"The cingulate cortex is a part of the brain situated in the medial aspect of the cortex. It is extended from the corpus callosum below to the cingulate sulcus above, at least anteriorly. [WP,unvetted]." [Wikipedia:Cingulate_cortex]	79935	\N	efo_slim,uberon_slim	uberon	0	EFO	cingulate cortex	cingulate cortex
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0003027	"The cingulate cortex is a part of the brain situated in the medial aspect of the cortex. It is extended from the corpus callosum below to the cingulate sulcus above, at least anteriorly. [WP,unvetted]." [Wikipedia:Cingulate_cortex]	196165	\N	\N	uberon	0	EFO	animal component	cingulate cortex
UBERON:0003050	\N	efo_slim,uberon_slim,vertebrate_core	"A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity." [Wikipedia:Nasal_placode, XAO:0000005]	UBERON:0003050	"A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity." [Wikipedia:Nasal_placode, XAO:0000005]	79937	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	olfactory placode	olfactory placode
UBERON:0002050	UBERON:0003050	efo_slim,uberon_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0003050	"A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity." [Wikipedia:Nasal_placode, XAO:0000005]	225345	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	olfactory placode
UBERON:0003053	\N	efo_slim,vertebrate_core	"Proliferative region that is part of the ventricular system." [ZFA:0001083]	UBERON:0003053	"Proliferative region that is part of the ventricular system." [ZFA:0001083]	79938	\N	efo_slim,vertebrate_core	uberon	0	EFO	ventricular zone	ventricular zone
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0003053	"Proliferative region that is part of the ventricular system." [ZFA:0001083]	196167	\N	\N	uberon	0	EFO	zebrafish component	ventricular zone
UBERON:0003058	\N	dubious_grouping,efo_slim	"The hypochord is a transient rod-like structure in the embryos of fish, lampreys and amphibians that is located immediately ventral to the notochord. The hypochord may play a role in positioning the dorsal aorta[GO]. near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle[AAO]" [AAO:0000733, GO:0055016, ISBN:0815318960, PMID:10648245]	UBERON:0003058	"The hypochord is a transient rod-like structure in the embryos of fish, lampreys and amphibians that is located immediately ventral to the notochord. The hypochord may play a role in positioning the dorsal aorta[GO]. near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle[AAO]" [AAO:0000733, GO:0055016, ISBN:0815318960, PMID:10648245]	79939	\N	dubious_grouping,efo_slim	uberon	0	EFO	hypochord	hypochord
EFO:0003331	\N	dubious_grouping,efo_slim	"" []	UBERON:0003058	"The hypochord is a transient rod-like structure in the embryos of fish, lampreys and amphibians that is located immediately ventral to the notochord. The hypochord may play a role in positioning the dorsal aorta[GO]. near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle[AAO]" [AAO:0000733, GO:0055016, ISBN:0815318960, PMID:10648245]	196168	\N	\N	uberon	0	EFO	zebrafish component	hypochord
UBERON:0002050	UBERON:0003058	dubious_grouping,efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0003058	"The hypochord is a transient rod-like structure in the embryos of fish, lampreys and amphibians that is located immediately ventral to the notochord. The hypochord may play a role in positioning the dorsal aorta[GO]. near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle[AAO]" [AAO:0000733, GO:0055016, ISBN:0815318960, PMID:10648245]	225346	dubious_grouping,efo_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	hypochord
UBERON:0003059	\N	efo_slim	"Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [ZFIN:curator]	UBERON:0003059	"Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [ZFIN:curator]	79940	\N	efo_slim	uberon	0	EFO	presomitic mesoderm	presomitic mesoderm
EFO:0000787	\N	efo_slim	"" []	UBERON:0003059	"Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [ZFIN:curator]	196169	\N	\N	uberon	0	EFO	animal component	presomitic mesoderm
UBERON:0003061	\N	efo_slim,uberon_slim,vertebrate_core	"Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]." [Wikipedia:Blood_island_of_umbilical_vesicle]	UBERON:0003061	"Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]." [Wikipedia:Blood_island_of_umbilical_vesicle]	79941	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	blood island	blood island
EFO:0003331	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0003061	"Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]." [Wikipedia:Blood_island_of_umbilical_vesicle]	196170	\N	\N	uberon	0	EFO	zebrafish component	blood island
UBERON:0003065	\N	efo_slim,uberon_slim	"Region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-050427-5'>Wehman et al, 2005.</a>" [ZFIN:curator]	UBERON:0003065	"Region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-050427-5'>Wehman et al, 2005.</a>" [ZFIN:curator]	79942	\N	efo_slim,uberon_slim	uberon	0	EFO	ciliary marginal zone	ciliary marginal zone
EFO:0003331	\N	efo_slim,uberon_slim	"" []	UBERON:0003065	"Region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-050427-5'>Wehman et al, 2005.</a>" [ZFIN:curator]	196171	\N	\N	uberon	0	EFO	zebrafish component	ciliary marginal zone
UBERON:0003068	\N	efo_slim,uberon_slim	"The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord." [GO:0048318, Wikipedia:Chordamesoderm]	UBERON:0003068	"The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord." [GO:0048318, Wikipedia:Chordamesoderm]	79943	\N	efo_slim,uberon_slim	uberon	0	EFO	axial mesoderm	axial mesoderm
EFO:0003331	\N	efo_slim,uberon_slim	"" []	UBERON:0003068	"The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord." [GO:0048318, Wikipedia:Chordamesoderm]	196172	\N	\N	uberon	0	EFO	zebrafish component	axial mesoderm
UBERON:0003069	\N	efo_slim,uberon_slim,vertebrate_core	"A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]" [NBK:NBK53175, Wikipedia:Otic_placode]	UBERON:0003069	"A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]" [NBK:NBK53175, Wikipedia:Otic_placode]	79944	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	otic placode	otic placode
UBERON:0009955	UBERON:0003069	efo_slim,uberon_slim,vertebrate_core	"Cranial placode with neurogenic potential[cjm]. Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia[ZFA]. The neurogenic placodes give rise to parts of various nerves and ganglia, the olfactory organ, parietal eye, parts of the inner ear, and the lateral line. There are 2 major series of neurogenic placodes, the dorsolateral and ventrolateral or epibranchial[PMID]" [PMID:11523831, Wikipedia:Neurogenic_placodes, ZFA:0001309]	UBERON:0003069	"A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]" [NBK:NBK53175, Wikipedia:Otic_placode]	225347	efo_slim,uberon_slim,vertebrate_core	efo_slim	uberon	1	EFO	neurogenic placode	otic placode
UBERON:0001048	UBERON:0009955	efo_slim,uberon_slim,vertebrate_core	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	UBERON:0003069	"A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]" [NBK:NBK53175, Wikipedia:Otic_placode]	582163	efo_slim	efo_slim,uberon_slim	uberon	2	EFO	primordium	otic placode
UBERON:0003070	\N	efo_slim	"The ectodermal rudiment of the trigeminal ganglion." [VHOG:0000109]	UBERON:0003070	"The ectodermal rudiment of the trigeminal ganglion." [VHOG:0000109]	79945	\N	efo_slim	uberon	0	EFO	trigeminal placode	trigeminal placode
UBERON:0009955	UBERON:0003070	efo_slim	"Cranial placode with neurogenic potential[cjm]. Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia[ZFA]. The neurogenic placodes give rise to parts of various nerves and ganglia, the olfactory organ, parietal eye, parts of the inner ear, and the lateral line. There are 2 major series of neurogenic placodes, the dorsolateral and ventrolateral or epibranchial[PMID]" [PMID:11523831, Wikipedia:Neurogenic_placodes, ZFA:0001309]	UBERON:0003070	"The ectodermal rudiment of the trigeminal ganglion." [VHOG:0000109]	225348	efo_slim	efo_slim	uberon	1	EFO	neurogenic placode	trigeminal placode
UBERON:0001048	UBERON:0009955	efo_slim	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	UBERON:0003070	"The ectodermal rudiment of the trigeminal ganglion." [VHOG:0000109]	582164	efo_slim	efo_slim,uberon_slim	uberon	2	EFO	primordium	trigeminal placode
UBERON:0003073	\N	efo_slim,uberon_slim,vertebrate_core	"A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]." [Wikipedia:Lens_placode, ZFIN:curator]	UBERON:0003073	"A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]." [Wikipedia:Lens_placode, ZFIN:curator]	79947	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	lens placode	lens placode
EFO:0003331	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0003073	"A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]." [Wikipedia:Lens_placode, ZFIN:curator]	196173	\N	\N	uberon	0	EFO	zebrafish component	lens placode
UBERON:0001048	UBERON:0003073	efo_slim,uberon_slim,vertebrate_core	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	UBERON:0003073	"A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]." [Wikipedia:Lens_placode, ZFIN:curator]	225349	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim	uberon	1	EFO	primordium	lens placode
UBERON:0003077	\N	efo_slim,uberon_slim,vertebrate_core	"The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]" [GO:0048339, Wikipedia:Paraxial_mesoderm]	UBERON:0003077	"The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]" [GO:0048339, Wikipedia:Paraxial_mesoderm]	79948	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	paraxial mesoderm	paraxial mesoderm
EFO:0003331	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0003077	"The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]" [GO:0048339, Wikipedia:Paraxial_mesoderm]	196174	\N	\N	uberon	0	EFO	zebrafish component	paraxial mesoderm
UBERON:0002050	UBERON:0003077	efo_slim,uberon_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0003077	"The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]" [GO:0048339, Wikipedia:Paraxial_mesoderm]	225350	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	paraxial mesoderm
UBERON:0003078	\N	efo_slim	"Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia." [VHOG:0000117]	UBERON:0003078	"Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia." [VHOG:0000117]	79949	\N	efo_slim	uberon	0	EFO	epibranchial placode	epibranchial placode
UBERON:0002050	UBERON:0003078	efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0003078	"Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia." [VHOG:0000117]	225351	efo_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	epibranchial placode
UBERON:0009955	UBERON:0003078	efo_slim	"Cranial placode with neurogenic potential[cjm]. Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia[ZFA]. The neurogenic placodes give rise to parts of various nerves and ganglia, the olfactory organ, parietal eye, parts of the inner ear, and the lateral line. There are 2 major series of neurogenic placodes, the dorsolateral and ventrolateral or epibranchial[PMID]" [PMID:11523831, Wikipedia:Neurogenic_placodes, ZFA:0001309]	UBERON:0003078	"Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia." [VHOG:0000117]	225352	efo_slim	efo_slim	uberon	1	EFO	neurogenic placode	epibranchial placode
UBERON:0001048	UBERON:0009955	efo_slim	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	UBERON:0003078	"Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia." [VHOG:0000117]	582165	efo_slim	efo_slim,uberon_slim	uberon	2	EFO	primordium	epibranchial placode
UBERON:0003079	\N	efo_slim,uberon_slim,vertebrate_core	"A ventral region of glial cells in the neural tube that provides inductive signals for the specification of neuronal cell types. The floor plate is evident at the ventral midline by the neural fold stage[GO]. A structure integral to the developing nervous system of vertebrate organisms. Located on the ventral midline of the embryonic neural tube, the floor plate is a specialized glial structure that spans the anteroposterior axis from the midbrain to the tail regions. It has been shown that the floor plate is conserved among vertebrates with homologous structures in invertebrates such as the fruit fly Drosophila and the nematode C. elegans. Functionally, the structure serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube[WP]." [GO:0021508, PMID:15738958, Wikipedia:Floor_plate]	UBERON:0003079	"A ventral region of glial cells in the neural tube that provides inductive signals for the specification of neuronal cell types. The floor plate is evident at the ventral midline by the neural fold stage[GO]. A structure integral to the developing nervous system of vertebrate organisms. Located on the ventral midline of the embryonic neural tube, the floor plate is a specialized glial structure that spans the anteroposterior axis from the midbrain to the tail regions. It has been shown that the floor plate is conserved among vertebrates with homologous structures in invertebrates such as the fruit fly Drosophila and the nematode C. elegans. Functionally, the structure serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube[WP]." [GO:0021508, PMID:15738958, Wikipedia:Floor_plate]	79950	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	floor plate	floor plate
EFO:0003331	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0003079	"A ventral region of glial cells in the neural tube that provides inductive signals for the specification of neuronal cell types. The floor plate is evident at the ventral midline by the neural fold stage[GO]. A structure integral to the developing nervous system of vertebrate organisms. Located on the ventral midline of the embryonic neural tube, the floor plate is a specialized glial structure that spans the anteroposterior axis from the midbrain to the tail regions. It has been shown that the floor plate is conserved among vertebrates with homologous structures in invertebrates such as the fruit fly Drosophila and the nematode C. elegans. Functionally, the structure serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube[WP]." [GO:0021508, PMID:15738958, Wikipedia:Floor_plate]	196175	\N	\N	uberon	0	EFO	zebrafish component	floor plate
UBERON:0003083	\N	efo_slim,uberon_slim	"Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia]." [ISBN:0815318960, Wikipedia:Trunk_neural_crest]	UBERON:0003083	"Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia]." [ISBN:0815318960, Wikipedia:Trunk_neural_crest]	79951	\N	efo_slim,uberon_slim	uberon	0	EFO	trunk neural crest	trunk neural crest
EFO:0003331	\N	efo_slim,uberon_slim	"" []	UBERON:0003083	"Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia]." [ISBN:0815318960, Wikipedia:Trunk_neural_crest]	196176	\N	\N	uberon	0	EFO	zebrafish component	trunk neural crest
UBERON:0002050	UBERON:0003083	efo_slim,uberon_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0003083	"Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia]." [ISBN:0815318960, Wikipedia:Trunk_neural_crest]	225353	efo_slim,uberon_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	trunk neural crest
UBERON:0003086	\N	efo_slim,uberon_slim	"Extension of the dorsal aorta in the tail. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [Wikipedia:Caudal_artery, ZFIN:curator]	UBERON:0003086	"Extension of the dorsal aorta in the tail. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [Wikipedia:Caudal_artery, ZFIN:curator]	79952	\N	efo_slim,uberon_slim	uberon	0	EFO	caudal artery	caudal artery
EFO:0003331	\N	efo_slim,uberon_slim	"" []	UBERON:0003086	"Extension of the dorsal aorta in the tail. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [Wikipedia:Caudal_artery, ZFIN:curator]	196177	\N	\N	uberon	0	EFO	zebrafish component	caudal artery
UBERON:0001637	UBERON:0003086	efo_slim,uberon_slim	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0003086	"Extension of the dorsal aorta in the tail. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [Wikipedia:Caudal_artery, ZFIN:curator]	225354	efo_slim,uberon_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	caudal artery
UBERON:0001981	UBERON:0001637	efo_slim,uberon_slim	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0003086	"Extension of the dorsal aorta in the tail. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a>" [Wikipedia:Caudal_artery, ZFIN:curator]	582166	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	caudal artery
UBERON:0003099	\N	efo_slim,uberon_slim,vertebrate_core	"The cranial neural crest arises in the anterior and populates the face and the pharyngeal arches giving rise to bones, cartilage, nerves and connective tissue [Wikipedia]." [Wikipedia:Cranial_neural_crest, ZFA:0001194, ZFIN:curator]	UBERON:0003099	"The cranial neural crest arises in the anterior and populates the face and the pharyngeal arches giving rise to bones, cartilage, nerves and connective tissue [Wikipedia]." [Wikipedia:Cranial_neural_crest, ZFA:0001194, ZFIN:curator]	79953	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	cranial neural crest	cranial neural crest
UBERON:0002050	UBERON:0003099	efo_slim,uberon_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0003099	"The cranial neural crest arises in the anterior and populates the face and the pharyngeal arches giving rise to bones, cartilage, nerves and connective tissue [Wikipedia]." [Wikipedia:Cranial_neural_crest, ZFA:0001194, ZFIN:curator]	225355	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	cranial neural crest
UBERON:0003112	\N	efo_slim	"Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ." [TAO:0000351]	UBERON:0003112	"Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ." [TAO:0000351]	79954	\N	efo_slim	uberon	0	EFO	olfactory region	olfactory region
EFO:0003331	\N	efo_slim	"" []	UBERON:0003112	"Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ." [TAO:0000351]	196178	\N	\N	uberon	0	EFO	zebrafish component	olfactory region
EFO:0003858	\N	efo_slim	"" []	UBERON:0003112	"Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ." [TAO:0000351]	196179	\N	\N	uberon	0	EFO	skeleton structure	olfactory region
UBERON:0003124	\N	efo_slim,uberon_slim	"The chorion is one of the membranes that exists during pregnancy between the developing fetus and mother. It is formed by extraembryonic mesoderm and the two layers of trophoblast and surrounds the embryo and other membranes. The chorionic villi emerge from the chorion, invade the endometrium, and allow transfer of nutrients from maternal blood to fetal blood." [Wikipedia:Chorion]	UBERON:0003124	"The chorion is one of the membranes that exists during pregnancy between the developing fetus and mother. It is formed by extraembryonic mesoderm and the two layers of trophoblast and surrounds the embryo and other membranes. The chorionic villi emerge from the chorion, invade the endometrium, and allow transfer of nutrients from maternal blood to fetal blood." [Wikipedia:Chorion]	79955	\N	efo_slim,uberon_slim	uberon	0	EFO	chorion	chorion
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0003124	"The chorion is one of the membranes that exists during pregnancy between the developing fetus and mother. It is formed by extraembryonic mesoderm and the two layers of trophoblast and surrounds the embryo and other membranes. The chorionic villi emerge from the chorion, invade the endometrium, and allow transfer of nutrients from maternal blood to fetal blood." [Wikipedia:Chorion]	196180	\N	\N	uberon	0	EFO	animal component	chorion
UBERON:0003126	\N	efo_slim,major_organ,uberon_slim	"The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph]." [GO:0060438, Wikipedia:Vertebrate_trachea]	UBERON:0003126	"The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph]." [GO:0060438, Wikipedia:Vertebrate_trachea]	79956	\N	efo_slim,major_organ,uberon_slim	uberon	0	EFO	trachea	trachea
EFO:0000787	\N	efo_slim,major_organ,uberon_slim	"" []	UBERON:0003126	"The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph]." [GO:0060438, Wikipedia:Vertebrate_trachea]	196181	\N	\N	uberon	0	EFO	animal component	trachea
UBERON:0003128	\N	efo_slim,uberon_slim,vertebrate_core	"Upper portion of the skull that excludes the mandible (when present in the organism)." [Wikipedia:Cranium_(anatomy)]	UBERON:0003128	"Upper portion of the skull that excludes the mandible (when present in the organism)." [Wikipedia:Cranium_(anatomy)]	79957	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	cranium	cranium
EFO:0003858	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0003128	"Upper portion of the skull that excludes the mandible (when present in the organism)." [Wikipedia:Cranium_(anatomy)]	196182	\N	\N	uberon	0	EFO	skeleton structure	cranium
UBERON:0003143	\N	efo_slim	"Organism at the pupal stage. The pupal stage is a life stage of some insects undergoing transformation. The pupal stage is found only in holometabolous insects, those that undergo a complete metamorphosis, going through four life stages; embryo, larva, pupa and imago." [Wikipedia:Pupa]	UBERON:0003143	"Organism at the pupal stage. The pupal stage is a life stage of some insects undergoing transformation. The pupal stage is found only in holometabolous insects, those that undergo a complete metamorphosis, going through four life stages; embryo, larva, pupa and imago." [Wikipedia:Pupa]	79958	\N	efo_slim	uberon	0	EFO	pupa	pupa
EFO:0000399	\N	efo_slim	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	UBERON:0003143	"Organism at the pupal stage. The pupal stage is a life stage of some insects undergoing transformation. The pupal stage is found only in holometabolous insects, those that undergo a complete metamorphosis, going through four life stages; embryo, larva, pupa and imago." [Wikipedia:Pupa]	196183	\N	\N	uberon	0	EFO	developmental stage	pupa
EFO:0000787	\N	efo_slim	"" []	UBERON:0003143	"Organism at the pupal stage. The pupal stage is a life stage of some insects undergoing transformation. The pupal stage is found only in holometabolous insects, those that undergo a complete metamorphosis, going through four life stages; embryo, larva, pupa and imago." [Wikipedia:Pupa]	196184	\N	\N	uberon	0	EFO	animal component	pupa
UBERON:0003215	\N	efo_slim	"organ part that has the form of a hollow cavity[WP]." [Wikipedia:Alveolus]	UBERON:0003215	"organ part that has the form of a hollow cavity[WP]." [Wikipedia:Alveolus]	79960	\N	efo_slim	uberon	0	EFO	alveolus	alveolus
EFO:0000787	\N	efo_slim	"" []	UBERON:0003215	"organ part that has the form of a hollow cavity[WP]." [Wikipedia:Alveolus]	196186	\N	\N	uberon	0	EFO	animal component	alveolus
EFO:0001646	\N	efo_slim	"An anatomical modifier is a quality which inheres in an organism part." []	UBERON:0003215	"organ part that has the form of a hollow cavity[WP]." [Wikipedia:Alveolus]	196187	\N	\N	uberon	0	EFO	anatomical modifier	alveolus
UBERON:0003307	\N	efo_slim,vertebrate_core	"A floor plate that is part of a midbrain [Automatically generated definition]." [OBOL:automatic]	UBERON:0003307	"A floor plate that is part of a midbrain [Automatically generated definition]." [OBOL:automatic]	79962	\N	efo_slim,vertebrate_core	uberon	0	EFO	floor plate of midbrain	floor plate of midbrain
UBERON:0002050	UBERON:0003307	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0003307	"A floor plate that is part of a midbrain [Automatically generated definition]." [OBOL:automatic]	225356	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	floor plate of midbrain
UBERON:0003663	\N	efo_slim	"A muscle organ that is part of a hindlimb [Automatically generated definition]." [OBOL:automatic]	UBERON:0003663	"A muscle organ that is part of a hindlimb [Automatically generated definition]." [OBOL:automatic]	79965	\N	efo_slim	uberon	0	EFO	hindlimb muscle	hindlimb muscle
EFO:0000787	\N	efo_slim	"" []	UBERON:0003663	"A muscle organ that is part of a hindlimb [Automatically generated definition]." [OBOL:automatic]	196190	\N	\N	uberon	0	EFO	animal component	hindlimb muscle
UBERON:0003679	\N	efo_slim	"The area of the mouth under the ventral surface of the tongue." []	UBERON:0003679	"The area of the mouth under the ventral surface of the tongue." []	79966	\N	efo_slim	uberon	0	EFO	mouth floor	mouth floor
EFO:0000787	\N	efo_slim	"" []	UBERON:0003679	"The area of the mouth under the ventral surface of the tongue." []	196191	\N	\N	uberon	0	EFO	animal component	mouth floor
UBERON:0003690	\N	efo_slim	"The sacrum is a large, triangular bone at the base of the spine and at the upper and back part of the pelvic cavity, where it is inserted like a wedge between the two hip bones. Its upper part connects with the last lumbar vertebra, and bottom part with the coccyx (tailbone). In children, it consists of usually five unfused vertebrae which begin to fuse between ages 16-18 and are usually completely fused into a single bone by age 26. It is curved upon itself and placed obliquely (that is, tilted forward). It is kyphotic  that is, concave facing forwards. The base projects forward as the sacral promontory internally, and articulates with the last lumbar vertebra to form the prominent sacrovertebral angle. The central part is curved outward towards the posterior, allowing greater room for the pelvic cavity. [WP,unvetted]." [Wikipedia:Sacrum]	UBERON:0003690	"The sacrum is a large, triangular bone at the base of the spine and at the upper and back part of the pelvic cavity, where it is inserted like a wedge between the two hip bones. Its upper part connects with the last lumbar vertebra, and bottom part with the coccyx (tailbone). In children, it consists of usually five unfused vertebrae which begin to fuse between ages 16-18 and are usually completely fused into a single bone by age 26. It is curved upon itself and placed obliquely (that is, tilted forward). It is kyphotic  that is, concave facing forwards. The base projects forward as the sacral promontory internally, and articulates with the last lumbar vertebra to form the prominent sacrovertebral angle. The central part is curved outward towards the posterior, allowing greater room for the pelvic cavity. [WP,unvetted]." [Wikipedia:Sacrum]	79969	\N	efo_slim	uberon	0	EFO	sacrum	sacrum
UBERON:0002090	UBERON:0003690	efo_slim	"The post-cranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]." [https://sourceforge.net/tracker/?func=detail&aid=2983975&group_id=76834&atid=974957, https://sourceforge.net/tracker/?func=detail&atid=1205376&aid=2983977&group_id=76834, ZFA:0000317]	UBERON:0003690	"The sacrum is a large, triangular bone at the base of the spine and at the upper and back part of the pelvic cavity, where it is inserted like a wedge between the two hip bones. Its upper part connects with the last lumbar vertebra, and bottom part with the coccyx (tailbone). In children, it consists of usually five unfused vertebrae which begin to fuse between ages 16-18 and are usually completely fused into a single bone by age 26. It is curved upon itself and placed obliquely (that is, tilted forward). It is kyphotic  that is, concave facing forwards. The base projects forward as the sacral promontory internally, and articulates with the last lumbar vertebra to form the prominent sacrovertebral angle. The central part is curved outward towards the posterior, allowing greater room for the pelvic cavity. [WP,unvetted]." [Wikipedia:Sacrum]	225357	efo_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	postcranial axial skeleton	sacrum
UBERON:0003728	\N	efo_slim	"The mediastinum is a non-delineated group of structures in the thorax, surrounded by loose connective tissue. It is the central compartment of the thoracic cavity. It contains the heart, the great vessels of the heart, esophagus, trachea, phrenic nerve, cardiac nerve, thoracic duct, thymus, and lymph nodes of the central chest. The mediastinum lies between the right and left pleura in and near the median sagittal plane of the chest. It extends from the sternum in front to the vertebral column behind, and contains all the thoracic viscera except the lungs. It may be divided for purposes of description into two parts:an upper portion, above the upper level of the pericardium, which is named the superior mediastinum with its superior limit at the superior thoracic opening and its inferior limit at the plane from the sternal angle to the disc of T4-T5 (Plane of Ludwig at Angle of Louis); and a lower portion, below the upper level of the pericardium. This lower portion is again subdivided into three parts, viz. that in front of the pericardium, the anterior mediastinum; that containing the pericardium and its contents, the middle mediastinum; and that behind the pericardium, the posterior mediastinum. It is surrounded by the chest wall anteriorly, the lungs laterally and the spine posteriorly. It is continuous with the loose connective tissue of the neck, and extends inferiorly onto the diaphragm." [Wikipedia:Mediastinum]	UBERON:0003728	"The mediastinum is a non-delineated group of structures in the thorax, surrounded by loose connective tissue. It is the central compartment of the thoracic cavity. It contains the heart, the great vessels of the heart, esophagus, trachea, phrenic nerve, cardiac nerve, thoracic duct, thymus, and lymph nodes of the central chest. The mediastinum lies between the right and left pleura in and near the median sagittal plane of the chest. It extends from the sternum in front to the vertebral column behind, and contains all the thoracic viscera except the lungs. It may be divided for purposes of description into two parts:an upper portion, above the upper level of the pericardium, which is named the superior mediastinum with its superior limit at the superior thoracic opening and its inferior limit at the plane from the sternal angle to the disc of T4-T5 (Plane of Ludwig at Angle of Louis); and a lower portion, below the upper level of the pericardium. This lower portion is again subdivided into three parts, viz. that in front of the pericardium, the anterior mediastinum; that containing the pericardium and its contents, the middle mediastinum; and that behind the pericardium, the posterior mediastinum. It is surrounded by the chest wall anteriorly, the lungs laterally and the spine posteriorly. It is continuous with the loose connective tissue of the neck, and extends inferiorly onto the diaphragm." [Wikipedia:Mediastinum]	79972	\N	efo_slim	uberon	0	EFO	mediastinum	mediastinum
EFO:0000787	\N	efo_slim	"" []	UBERON:0003728	"The mediastinum is a non-delineated group of structures in the thorax, surrounded by loose connective tissue. It is the central compartment of the thoracic cavity. It contains the heart, the great vessels of the heart, esophagus, trachea, phrenic nerve, cardiac nerve, thoracic duct, thymus, and lymph nodes of the central chest. The mediastinum lies between the right and left pleura in and near the median sagittal plane of the chest. It extends from the sternum in front to the vertebral column behind, and contains all the thoracic viscera except the lungs. It may be divided for purposes of description into two parts:an upper portion, above the upper level of the pericardium, which is named the superior mediastinum with its superior limit at the superior thoracic opening and its inferior limit at the plane from the sternal angle to the disc of T4-T5 (Plane of Ludwig at Angle of Louis); and a lower portion, below the upper level of the pericardium. This lower portion is again subdivided into three parts, viz. that in front of the pericardium, the anterior mediastinum; that containing the pericardium and its contents, the middle mediastinum; and that behind the pericardium, the posterior mediastinum. It is surrounded by the chest wall anteriorly, the lungs laterally and the spine posteriorly. It is continuous with the loose connective tissue of the neck, and extends inferiorly onto the diaphragm." [Wikipedia:Mediastinum]	196192	\N	\N	uberon	0	EFO	animal component	mediastinum
UBERON:0003849	\N	efo_slim,vertebrate_core	"Neural crest that is part of the midbrain." []	UBERON:0003849	"Neural crest that is part of the midbrain." []	79974	\N	efo_slim,vertebrate_core	uberon	0	EFO	mesencephalic neural crest	mesencephalic neural crest
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0003849	"Neural crest that is part of the midbrain." []	196193	\N	\N	uberon	0	EFO	zebrafish component	mesencephalic neural crest
UBERON:0003099	UBERON:0003849	efo_slim,vertebrate_core	"The cranial neural crest arises in the anterior and populates the face and the pharyngeal arches giving rise to bones, cartilage, nerves and connective tissue [Wikipedia]." [Wikipedia:Cranial_neural_crest, ZFA:0001194, ZFIN:curator]	UBERON:0003849	"Neural crest that is part of the midbrain." []	225358	efo_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	cranial neural crest	mesencephalic neural crest
UBERON:0002050	UBERON:0003099	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0003849	"Neural crest that is part of the midbrain." []	582167	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	mesencephalic neural crest
UBERON:0003850	\N	efo_slim,vertebrate_core	"Cranial neural crest that is part of the telencephalon." []	UBERON:0003850	"Cranial neural crest that is part of the telencephalon." []	79975	\N	efo_slim,vertebrate_core	uberon	0	EFO	telencephalon neural crest	telencephalon neural crest
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0003850	"Cranial neural crest that is part of the telencephalon." []	196194	\N	\N	uberon	0	EFO	zebrafish component	telencephalon neural crest
UBERON:0003851	\N	efo_slim	"Cranial neural crest that is part of the diencephalon." []	UBERON:0003851	"Cranial neural crest that is part of the diencephalon." []	79976	\N	efo_slim	uberon	0	EFO	diencephalon neural crest	diencephalon neural crest
EFO:0003331	\N	efo_slim	"" []	UBERON:0003851	"Cranial neural crest that is part of the diencephalon." []	196195	\N	\N	uberon	0	EFO	zebrafish component	diencephalon neural crest
UBERON:0003861	\N	efo_slim,vertebrate_core	"posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone." [Wikipedia:Vertebral_arch]	UBERON:0003861	"posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone." [Wikipedia:Vertebral_arch]	79977	\N	efo_slim,vertebrate_core	uberon	0	EFO	neural arch	neural arch
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0003861	"posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone." [Wikipedia:Vertebral_arch]	196196	\N	\N	uberon	0	EFO	zebrafish component	neural arch
EFO:0003858	\N	efo_slim,vertebrate_core	"" []	UBERON:0003861	"posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone." [Wikipedia:Vertebral_arch]	196197	\N	\N	uberon	0	EFO	skeleton structure	neural arch
UBERON:0003889	\N	efo_slim,uberon_slim	"Two very fine tubes lined with ciliated epithelia, leading from the ovaries of female mammals into the uterus, via the utero-tubal junction[WP]. Embryos have two pairs of ducts to let gametes out of the body; one pair (the Mullerian ducts) develops in females into the Fallopian tubes, uterus and vagina, while the other pair (the Wolffian ducts) develops in males into the epididymis and vas deferens." [Wikipedia:Fallopian_tube]	UBERON:0003889	"Two very fine tubes lined with ciliated epithelia, leading from the ovaries of female mammals into the uterus, via the utero-tubal junction[WP]. Embryos have two pairs of ducts to let gametes out of the body; one pair (the Mullerian ducts) develops in females into the Fallopian tubes, uterus and vagina, while the other pair (the Wolffian ducts) develops in males into the epididymis and vas deferens." [Wikipedia:Fallopian_tube]	79982	\N	efo_slim,uberon_slim	uberon	0	EFO	fallopian tube	fallopian tube
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0003889	"Two very fine tubes lined with ciliated epithelia, leading from the ovaries of female mammals into the uterus, via the utero-tubal junction[WP]. Embryos have two pairs of ducts to let gametes out of the body; one pair (the Mullerian ducts) develops in females into the Fallopian tubes, uterus and vagina, while the other pair (the Wolffian ducts) develops in males into the epididymis and vas deferens." [Wikipedia:Fallopian_tube]	196200	\N	\N	uberon	0	EFO	animal component	fallopian tube
UBERON:0003894	\N	efo_slim,vertebrate_core	"A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum." [ISBN:3211492755]	UBERON:0003894	"A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum." [ISBN:3211492755]	79983	\N	efo_slim,vertebrate_core	uberon	0	EFO	liver primordium	liver primordium
EFO:0003332	\N	efo_slim,vertebrate_core	"" []	UBERON:0003894	"A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum." [ISBN:3211492755]	196201	\N	\N	uberon	0	EFO	zebrafish embryonic structure	liver primordium
UBERON:0001048	UBERON:0003894	efo_slim,vertebrate_core	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	UBERON:0003894	"A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum." [ISBN:3211492755]	225359	efo_slim,vertebrate_core	efo_slim,uberon_slim	uberon	1	EFO	primordium	liver primordium
UBERON:0002050	UBERON:0003894	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0003894	"A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum." [ISBN:3211492755]	225360	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	liver primordium
UBERON:0003901	\N	efo_slim	"A logitudinal sheet of continuous connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses; each is destined to become, respectively, the epaxial and hyopaxial musculature." [ISBN10:0073040584, ZFA:0000671]	UBERON:0003901	"A logitudinal sheet of continuous connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses; each is destined to become, respectively, the epaxial and hyopaxial musculature." [ISBN10:0073040584, ZFA:0000671]	79984	\N	efo_slim	uberon	0	EFO	horizontal septum	horizontal septum
EFO:0003331	\N	efo_slim	"" []	UBERON:0003901	"A logitudinal sheet of continuous connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses; each is destined to become, respectively, the epaxial and hyopaxial musculature." [ISBN10:0073040584, ZFA:0000671]	196202	\N	\N	uberon	0	EFO	zebrafish component	horizontal septum
UBERON:0003921	\N	efo_slim,vertebrate_core	"embryonic structure that develops into pancreatic bud." [http://en.wikipedia.org/wiki/Pancreas#Embryological_development]	UBERON:0003921	"embryonic structure that develops into pancreatic bud." [http://en.wikipedia.org/wiki/Pancreas#Embryological_development]	79987	\N	efo_slim,vertebrate_core	uberon	0	EFO	pancreas primordium	pancreas primordium
EFO:0003332	\N	efo_slim,vertebrate_core	"" []	UBERON:0003921	"embryonic structure that develops into pancreatic bud." [http://en.wikipedia.org/wiki/Pancreas#Embryological_development]	196204	\N	\N	uberon	0	EFO	zebrafish embryonic structure	pancreas primordium
UBERON:0001048	UBERON:0003921	efo_slim,vertebrate_core	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	UBERON:0003921	"embryonic structure that develops into pancreatic bud." [http://en.wikipedia.org/wiki/Pancreas#Embryological_development]	225361	efo_slim,vertebrate_core	efo_slim,uberon_slim	uberon	1	EFO	primordium	pancreas primordium
UBERON:0003922	\N	efo_slim	"The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. In humans, an embryonic structure that is an outgrowth of the duodenum during embryogenesis - joins together to form the adult pancreas[WP]." [PMID:16417468, Wikipedia:Pancreatic_bud]	UBERON:0003922	"The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. In humans, an embryonic structure that is an outgrowth of the duodenum during embryogenesis - joins together to form the adult pancreas[WP]." [PMID:16417468, Wikipedia:Pancreatic_bud]	79988	\N	efo_slim	uberon	0	EFO	pancreatic bud	pancreatic bud
EFO:0003332	\N	efo_slim	"" []	UBERON:0003922	"The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. In humans, an embryonic structure that is an outgrowth of the duodenum during embryogenesis - joins together to form the adult pancreas[WP]." [PMID:16417468, Wikipedia:Pancreatic_bud]	196205	\N	\N	uberon	0	EFO	zebrafish embryonic structure	pancreatic bud
UBERON:0002050	UBERON:0003922	efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0003922	"The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. In humans, an embryonic structure that is an outgrowth of the duodenum during embryogenesis - joins together to form the adult pancreas[WP]." [PMID:16417468, Wikipedia:Pancreatic_bud]	225362	efo_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	pancreatic bud
UBERON:0003932	\N	efo_slim	"A cartilage element of chondrocranium. Example: neurocranial trabecula." [https://orcid.org/0000-0002-6601-2165]	UBERON:0003932	"A cartilage element of chondrocranium. Example: neurocranial trabecula." [https://orcid.org/0000-0002-6601-2165]	79989	\N	efo_slim	uberon	0	EFO	cartilage element of chondrocranium	cartilage element of chondrocranium
EFO:0003331	\N	efo_slim	"" []	UBERON:0003932	"A cartilage element of chondrocranium. Example: neurocranial trabecula." [https://orcid.org/0000-0002-6601-2165]	196206	\N	\N	uberon	0	EFO	zebrafish component	cartilage element of chondrocranium
EFO:0003858	\N	efo_slim	"" []	UBERON:0003932	"A cartilage element of chondrocranium. Example: neurocranial trabecula." [https://orcid.org/0000-0002-6601-2165]	196207	\N	\N	uberon	0	EFO	skeleton structure	cartilage element of chondrocranium
UBERON:0003934	\N	efo_slim	"Mesenchyme that is part of a pectoral fin [Automatically generated definition]." [OBOL:automatic]	UBERON:0003934	"Mesenchyme that is part of a pectoral fin [Automatically generated definition]." [OBOL:automatic]	79990	\N	efo_slim	uberon	0	EFO	mesenchyme pectoral fin	mesenchyme pectoral fin
EFO:0003331	\N	efo_slim	"" []	UBERON:0003934	"Mesenchyme that is part of a pectoral fin [Automatically generated definition]." [OBOL:automatic]	196208	\N	\N	uberon	0	EFO	zebrafish component	mesenchyme pectoral fin
UBERON:0003936	\N	efo_slim	"" []	UBERON:0003936	"" []	79991	\N	efo_slim	uberon	0	EFO	postoptic commissure	postoptic commissure
EFO:0003331	\N	efo_slim	"" []	UBERON:0003936	"" []	196209	\N	\N	uberon	0	EFO	zebrafish component	postoptic commissure
UBERON:0003982	\N	efo_slim,vertebrate_core	"Stage IV (690-730 microns) are oocyte maturation." []	UBERON:0003982	"Stage IV (690-730 microns) are oocyte maturation." []	79992	\N	efo_slim,vertebrate_core	uberon	0	EFO	mature ovarian follicle	mature ovarian follicle
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0003982	"Stage IV (690-730 microns) are oocyte maturation." []	196210	\N	\N	uberon	0	EFO	zebrafish component	mature ovarian follicle
UBERON:0004026	\N	efo_slim	"the caudally located, distinct elevation of a transient proliferating cell mass of the fetal subventricular zone, located adjacent to the lateral ventricle" [MP:0004278]	UBERON:0004026	"the caudally located, distinct elevation of a transient proliferating cell mass of the fetal subventricular zone, located adjacent to the lateral ventricle" [MP:0004278]	79993	\N	efo_slim	uberon	0	EFO	caudal ganglionic eminence	caudal ganglionic eminence
UBERON:0002050	UBERON:0004026	efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0004026	"the caudally located, distinct elevation of a transient proliferating cell mass of the fetal subventricular zone, located adjacent to the lateral ventricle" [MP:0004278]	225363	efo_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	caudal ganglionic eminence
UBERON:0004086	\N	efo_slim	"one of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid" []	UBERON:0004086	"one of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid" []	79997	\N	efo_slim	uberon	0	EFO	brain ventricle	brain ventricle
EFO:0000787	\N	efo_slim	"" []	UBERON:0004086	"one of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid" []	196213	\N	\N	uberon	0	EFO	animal component	brain ventricle
UBERON:0004117	\N	efo_slim,vertebrate_core	"embryonic structure that forms on the endodermal side between the pharyngeal arches, and pharyngeal grooves (or clefts) form the lateral ectodermal surface of the neck region to separate the arches. The pouches line up with the clefts, and these thin segments become gills in fish[WP]. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits[ZFA]." [Wikipedia:Pharyngeal_pouch_(embryology)]	UBERON:0004117	"embryonic structure that forms on the endodermal side between the pharyngeal arches, and pharyngeal grooves (or clefts) form the lateral ectodermal surface of the neck region to separate the arches. The pouches line up with the clefts, and these thin segments become gills in fish[WP]. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits[ZFA]." [Wikipedia:Pharyngeal_pouch_(embryology)]	79998	\N	efo_slim,vertebrate_core	uberon	0	EFO	pharyngeal pouch	pharyngeal pouch
UBERON:0002050	UBERON:0004117	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0004117	"embryonic structure that forms on the endodermal side between the pharyngeal arches, and pharyngeal grooves (or clefts) form the lateral ectodermal surface of the neck region to separate the arches. The pouches line up with the clefts, and these thin segments become gills in fish[WP]. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits[ZFA]." [Wikipedia:Pharyngeal_pouch_(embryology)]	225364	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	pharyngeal pouch
UBERON:0004122	\N	efo_slim	"Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction." [VHOG:0000286]	UBERON:0004122	"Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction." [VHOG:0000286]	79999	\N	efo_slim	uberon	0	EFO	genitourinary system	genitourinary system
UBERON:0000467	\N	efo_slim	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0004122	"Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction." [VHOG:0000286]	196214	\N	\N	uberon	0	EFO	anatomical system	genitourinary system
UBERON:0004141	\N	efo_slim,vertebrate_core	"An epithelial tube that will give rise to the mature heart." [GO:0003143, GOC:mtg_heart]	UBERON:0004141	"An epithelial tube that will give rise to the mature heart." [GO:0003143, GOC:mtg_heart]	80001	\N	efo_slim,vertebrate_core	uberon	0	EFO	heart tube	heart tube
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0004141	"An epithelial tube that will give rise to the mature heart." [GO:0003143, GOC:mtg_heart]	196215	\N	\N	uberon	0	EFO	zebrafish component	heart tube
UBERON:0002050	UBERON:0004141	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0004141	"An epithelial tube that will give rise to the mature heart." [GO:0003143, GOC:mtg_heart]	225365	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	heart tube
UBERON:0004152	\N	efo_slim	"The bulbus arteriosus is an elastic heart chamber[GO]. Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches[ZFA]." [GO:0003232, PMID:15108157]	UBERON:0004152	"The bulbus arteriosus is an elastic heart chamber[GO]. Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches[ZFA]." [GO:0003232, PMID:15108157]	80002	\N	efo_slim	uberon	0	EFO	bulbus arteriosus	bulbus arteriosus
EFO:0001955	\N	efo_slim	"A heart component is an animal component that is part of some heart." []	UBERON:0004152	"The bulbus arteriosus is an elastic heart chamber[GO]. Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches[ZFA]." [GO:0003232, PMID:15108157]	196216	\N	\N	uberon	0	EFO	heart component	bulbus arteriosus
EFO:0003331	\N	efo_slim	"" []	UBERON:0004152	"The bulbus arteriosus is an elastic heart chamber[GO]. Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches[ZFA]." [GO:0003232, PMID:15108157]	196217	\N	\N	uberon	0	EFO	zebrafish component	bulbus arteriosus
UBERON:0004167	\N	efo_slim	"the region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making" [GO:0021769, MGI:csmith, MP:0004170]	UBERON:0004167	"the region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making" [GO:0021769, MGI:csmith, MP:0004170]	80003	\N	efo_slim	uberon	0	EFO	orbitofrontal cortex	orbitofrontal cortex
EFO:0000787	\N	efo_slim	"" []	UBERON:0004167	"the region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making" [GO:0021769, MGI:csmith, MP:0004170]	196218	\N	\N	uberon	0	EFO	animal component	orbitofrontal cortex
UBERON:0004264	\N	\N	"A zone of skin that is part of a lower leg [Automatically generated definition]." []	UBERON:0004264	"A zone of skin that is part of a lower leg [Automatically generated definition]." []	80005	\N	\N	uberon	0	EFO	lower leg skin	lower leg skin
UBERON:0000014	\N	\N	"The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers." []	UBERON:0004264	"A zone of skin that is part of a lower leg [Automatically generated definition]." []	196220	\N	\N	uberon	0	EFO	zone of skin {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"}	lower leg skin
UBERON:0004288	\N	efo_slim,uberon_slim	"Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body." [VSAO:0000026]	UBERON:0004288	"Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body." [VSAO:0000026]	80006	\N	efo_slim,uberon_slim	uberon	0	EFO	skeleton	skeleton
EFO:0003858	\N	efo_slim,uberon_slim	"" []	UBERON:0004288	"Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body." [VSAO:0000026]	196221	\N	\N	uberon	0	EFO	skeleton structure	skeleton
UBERON:0004363	\N	efo_slim,uberon_slim,vertebrate_core	"One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]" [MP:0002672]	UBERON:0004363	"One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]" [MP:0002672]	80007	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	aortic arch	aortic arch
EFO:0003331	\N	efo_slim,uberon_slim,vertebrate_core	"" []	UBERON:0004363	"One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]" [MP:0002672]	196222	\N	\N	uberon	0	EFO	zebrafish component	aortic arch
UBERON:0001637	UBERON:0004363	efo_slim,uberon_slim,vertebrate_core	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0004363	"One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]" [MP:0002672]	225366	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	aortic arch
UBERON:0002050	UBERON:0004363	efo_slim,uberon_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0004363	"One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]" [MP:0002672]	225367	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	aortic arch
UBERON:0001981	UBERON:0001637	efo_slim,uberon_slim,vertebrate_core	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0004363	"One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]" [MP:0002672]	582168	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	aortic arch
UBERON:0004454	\N	efo_slim,uberon_slim	"mesopodial segment of the pes, including the tarsal skeleton and associated tissues." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Ankle]	UBERON:0004454	"mesopodial segment of the pes, including the tarsal skeleton and associated tissues." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Ankle]	80008	\N	efo_slim,uberon_slim	uberon	0	EFO	tarsal region	tarsal region
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0004454	"mesopodial segment of the pes, including the tarsal skeleton and associated tissues." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Ankle]	196223	\N	\N	uberon	0	EFO	animal component	tarsal region
UBERON:0004535	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical system that has as its parts the heart and blood vessels." [BTO:0000088]	UBERON:0004535	"Anatomical system that has as its parts the heart and blood vessels." [BTO:0000088]	80009	\N	efo_slim,uberon_slim,vertebrate_core	uberon	0	EFO	cardiovascular system	cardiovascular system
UBERON:0000467	\N	efo_slim,uberon_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0004535	"Anatomical system that has as its parts the heart and blood vessels." [BTO:0000088]	196224	\N	\N	uberon	0	EFO	anatomical system	cardiovascular system
UBERON:0004648	\N	\N	"A muscularis mucosa that is part of a esophagus." []	UBERON:0004648	"A muscularis mucosa that is part of a esophagus." []	80010	\N	\N	uberon	0	EFO	esophagus muscularis mucosa	esophagus muscularis mucosa
UBERON:0002112	UBERON:0004648	\N	"A portion of smooth muscle tissue that is part of a esophagus [Automatically generated definition]." []	UBERON:0004648	"A muscularis mucosa that is part of a esophagus." []	225368	\N	\N	uberon	1	EFO	smooth muscle of esophagus	esophagus muscularis mucosa
UBERON:0006676	UBERON:0004648	\N	"A the thin layer of smooth muscle found in most parts of the gastrointestinal tract, located outside the lamina propria mucosae and separating it from the submucosa[WP]." []	UBERON:0004648	"A muscularis mucosa that is part of a esophagus." []	225369	\N	\N	uberon	1	EFO	muscularis mucosa	esophagus muscularis mucosa
UBERON:0004707	\N	efo_slim	"A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities." [Wikipedia:Pharyngula]	UBERON:0004707	"A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities." [Wikipedia:Pharyngula]	80011	\N	efo_slim	uberon	0	EFO	pharyngula stage	pharyngula stage
EFO:0000399	\N	efo_slim	"A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage" []	UBERON:0004707	"A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities." [Wikipedia:Pharyngula]	196225	\N	\N	uberon	0	EFO	developmental stage	pharyngula stage
EFO:0000787	\N	efo_slim	"" []	UBERON:0004707	"A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities." [Wikipedia:Pharyngula]	196226	\N	\N	uberon	0	EFO	animal component	pharyngula stage
UBERON:0004740	\N	efo_slim	"Median elements that are ossified within copulae and are not assigned to a specific branchial arch number. They articulate posterolaterally with the hypobranchials." []	UBERON:0004740	"Median elements that are ossified within copulae and are not assigned to a specific branchial arch number. They articulate posterolaterally with the hypobranchials." []	80012	\N	efo_slim	uberon	0	EFO	basibranchial bone	basibranchial bone
UBERON:0001474	\N	efo_slim	"The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone." []	UBERON:0004740	"Median elements that are ossified within copulae and are not assigned to a specific branchial arch number. They articulate posterolaterally with the hypobranchials." []	196227	\N	\N	uberon	0	EFO	bone	basibranchial bone
UBERON:0004741	\N	efo_slim	"Dermal bone on the margin of the scapula. The cleithrum is attached to the skull in fishes, but free from the latter in amphibians and disappears early in the evolution of reptiles." [VSAO:0000187, Wikipedia:Cleithrum]	UBERON:0004741	"Dermal bone on the margin of the scapula. The cleithrum is attached to the skull in fishes, but free from the latter in amphibians and disappears early in the evolution of reptiles." [VSAO:0000187, Wikipedia:Cleithrum]	80013	\N	efo_slim	uberon	0	EFO	cleithrum	cleithrum
EFO:0003331	\N	efo_slim	"" []	UBERON:0004741	"Dermal bone on the margin of the scapula. The cleithrum is attached to the skull in fishes, but free from the latter in amphibians and disappears early in the evolution of reptiles." [VSAO:0000187, Wikipedia:Cleithrum]	196228	\N	\N	uberon	0	EFO	zebrafish component	cleithrum
EFO:0003858	\N	efo_slim	"" []	UBERON:0004741	"Dermal bone on the margin of the scapula. The cleithrum is attached to the skull in fishes, but free from the latter in amphibians and disappears early in the evolution of reptiles." [VSAO:0000187, Wikipedia:Cleithrum]	196229	\N	\N	uberon	0	EFO	skeleton structure	cleithrum
UBERON:0004742	\N	efo_slim	"The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified]." [VHOG:0001022]	UBERON:0004742	"The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified]." [VHOG:0001022]	80014	\N	efo_slim	uberon	0	EFO	dentary	dentary
EFO:0003331	\N	efo_slim	"" []	UBERON:0004742	"The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified]." [VHOG:0001022]	196230	\N	\N	uberon	0	EFO	zebrafish component	dentary
EFO:0003858	\N	efo_slim	"" []	UBERON:0004742	"The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified]." [VHOG:0001022]	196231	\N	\N	uberon	0	EFO	skeleton structure	dentary
UBERON:0004801	\N	efo_slim	"An epithelium that is part of a uterine cervix [Automatically generated definition]." [OBOL:automatic]	UBERON:0004801	"An epithelium that is part of a uterine cervix [Automatically generated definition]." [OBOL:automatic]	80017	\N	efo_slim	uberon	0	EFO	cervix epithelium	cervix epithelium
UBERON:0000483	\N	efo_slim	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	UBERON:0004801	"An epithelium that is part of a uterine cervix [Automatically generated definition]." [OBOL:automatic]	196232	\N	\N	uberon	0	EFO	epithelium	cervix epithelium
UBERON:0000002	UBERON:0004801	efo_slim	"Lower, narrow portion of the uterus where it joins with the top end of the vagina." [UBERON:cjm, Wikipedia:Cervix]	UBERON:0004801	"An epithelium that is part of a uterine cervix [Automatically generated definition]." [OBOL:automatic]	225370	efo_slim	efo_slim,uberon_slim	uberon	1	EFO	uterine cervix	cervix epithelium
UBERON:0004851	\N	efo_slim	"An endothelium that is part of an aorta [Automatically generated definition]." [OBOL:automatic]	UBERON:0004851	"An endothelium that is part of an aorta [Automatically generated definition]." [OBOL:automatic]	80018	\N	efo_slim	uberon	0	EFO	aorta endothelium	aorta endothelium
UBERON:0001986	UBERON:0004851	efo_slim	"A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]" [FMA:63916, MESH:A10.272.491]	UBERON:0004851	"An endothelium that is part of an aorta [Automatically generated definition]." [OBOL:automatic]	225371	efo_slim	efo_slim,uberon_slim	uberon	1	EFO	endothelium	aorta endothelium
UBERON:0004880	\N	efo_slim	"The central region of trunk mesoderm. This tissue forms the notochord" [https://orcid.org/0000-0002-6601-2165]	UBERON:0004880	"The central region of trunk mesoderm. This tissue forms the notochord" [https://orcid.org/0000-0002-6601-2165]	80019	\N	efo_slim	uberon	0	EFO	chordamesoderm	chordamesoderm
EFO:0003332	\N	efo_slim	"" []	UBERON:0004880	"The central region of trunk mesoderm. This tissue forms the notochord" [https://orcid.org/0000-0002-6601-2165]	196233	\N	\N	uberon	0	EFO	zebrafish embryonic structure	chordamesoderm
UBERON:0004908	\N	\N	"The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. [http://en.wikipedia.org/wiki/Alimentary_canal#Upper_gastrointestinal_tract ]" []	UBERON:0004908	"The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. [http://en.wikipedia.org/wiki/Alimentary_canal#Upper_gastrointestinal_tract ]" []	80020	\N	\N	uberon	0	EFO	upper digestive tract	upper digestive tract
UBERON:0001007	UBERON:0004908	\N	"Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes." [FB:gg, NLM:alimentary+system, Wikipedia:Digestive_system]	UBERON:0004908	"The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. [http://en.wikipedia.org/wiki/Alimentary_canal#Upper_gastrointestinal_tract ]" []	225372	\N	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	digestive system	upper digestive tract
UBERON:0005020	\N	efo_slim	"A mucosa that is part of a tongue [Automatically generated definition]." [OBOL:automatic]	UBERON:0005020	"A mucosa that is part of a tongue [Automatically generated definition]." [OBOL:automatic]	80021	\N	efo_slim	uberon	0	EFO	mucosa of tongue	mucosa of tongue
UBERON:0001033	UBERON:0005020	efo_slim	"Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception of taste (GO:0050912)'." []	UBERON:0005020	"A mucosa that is part of a tongue [Automatically generated definition]." [OBOL:automatic]	225373	efo_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	gustatory system	mucosa of tongue
UBERON:0001032	UBERON:0001033	efo_slim	"Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information." [Wikipedia:Sensory_system]	UBERON:0005020	"A mucosa that is part of a tongue [Automatically generated definition]." [OBOL:automatic]	582169	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	sensory system	mucosa of tongue
UBERON:0005068	\N	efo_slim	"a solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]." [GO:0014024, ZFA:0000133]	UBERON:0005068	"a solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]." [GO:0014024, ZFA:0000133]	80022	\N	efo_slim	uberon	0	EFO	neural rod	neural rod
EFO:0003331	\N	efo_slim	"" []	UBERON:0005068	"a solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]." [GO:0014024, ZFA:0000133]	196234	\N	\N	uberon	0	EFO	zebrafish component	neural rod
UBERON:0005253	\N	efo_slim,vertebrate_core	"Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells." [ISBN:0683400088, MP:0011260]	UBERON:0005253	"Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells." [ISBN:0683400088, MP:0011260]	80024	\N	efo_slim,vertebrate_core	uberon	0	EFO	head mesenchyme	head mesenchyme
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0005253	"Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells." [ISBN:0683400088, MP:0011260]	196235	\N	\N	uberon	0	EFO	zebrafish component	head mesenchyme
UBERON:0005256	\N	efo_slim,vertebrate_core	"Mesenchyme that is part of a trunk." [OBOL:automatic]	UBERON:0005256	"Mesenchyme that is part of a trunk." [OBOL:automatic]	80025	\N	efo_slim,vertebrate_core	uberon	0	EFO	trunk mesenchyme	trunk mesenchyme
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0005256	"Mesenchyme that is part of a trunk." [OBOL:automatic]	196236	\N	\N	uberon	0	EFO	zebrafish component	trunk mesenchyme
UBERON:0005284	\N	efo_slim,vertebrate_core	"A vasculature that is part of a brain [Automatically generated definition]." [OBOL:automatic]	UBERON:0005284	"A vasculature that is part of a brain [Automatically generated definition]." [OBOL:automatic]	80027	\N	efo_slim,vertebrate_core	uberon	0	EFO	brain vasculature	brain vasculature
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0005284	"A vasculature that is part of a brain [Automatically generated definition]." [OBOL:automatic]	196237	\N	\N	uberon	0	EFO	zebrafish component	brain vasculature
UBERON:0005292	\N	efo_slim	"Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo." [https://orcid.org/0000-0002-6601-2165]	UBERON:0005292	"Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo." [https://orcid.org/0000-0002-6601-2165]	80028	\N	efo_slim	uberon	0	EFO	extraembryonic tissue	extraembryonic tissue
EFO:0000787	\N	efo_slim	"" []	UBERON:0005292	"Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo." [https://orcid.org/0000-0002-6601-2165]	196238	\N	\N	uberon	0	EFO	animal component	extraembryonic tissue
UBERON:0005306	\N	efo_slim	"A blastema is a mass of cells capable of growth and regeneration into organs or body parts. Historically blastema have been thought to be composed of undifferentiated pluripotent cells, but recent research indicates that in some organisms blastema may retain memory of tissue origin.[1] Blastemata are typically found in the early stages of an organism's development such as in embryos, and in the regeneration of tissues, organs and bone[WP]. A regenerating tissue composed of a proliferative mass of undifferentiated progenitor cells from which new differentiated structures arise[ZFA]." [Wikipedia:Blastema, ZFA:0001270, ZFIN:ZDB-PUB-061108-12]	UBERON:0005306	"A blastema is a mass of cells capable of growth and regeneration into organs or body parts. Historically blastema have been thought to be composed of undifferentiated pluripotent cells, but recent research indicates that in some organisms blastema may retain memory of tissue origin.[1] Blastemata are typically found in the early stages of an organism's development such as in embryos, and in the regeneration of tissues, organs and bone[WP]. A regenerating tissue composed of a proliferative mass of undifferentiated progenitor cells from which new differentiated structures arise[ZFA]." [Wikipedia:Blastema, ZFA:0001270, ZFIN:ZDB-PUB-061108-12]	80029	\N	efo_slim	uberon	0	EFO	blastema	blastema
EFO:0003331	\N	efo_slim	"" []	UBERON:0005306	"A blastema is a mass of cells capable of growth and regeneration into organs or body parts. Historically blastema have been thought to be composed of undifferentiated pluripotent cells, but recent research indicates that in some organisms blastema may retain memory of tissue origin.[1] Blastemata are typically found in the early stages of an organism's development such as in embryos, and in the regeneration of tissues, organs and bone[WP]. A regenerating tissue composed of a proliferative mass of undifferentiated progenitor cells from which new differentiated structures arise[ZFA]." [Wikipedia:Blastema, ZFA:0001270, ZFIN:ZDB-PUB-061108-12]	196239	\N	\N	uberon	0	EFO	zebrafish component	blastema
UBERON:0005366	\N	efo_slim	"Olfactory apparatus on the lower surface of the frontal lobe of the brain. It consists of the olfactory bulb, tract, and trigone[BTO]." [BTO:0001362]	UBERON:0005366	"Olfactory apparatus on the lower surface of the frontal lobe of the brain. It consists of the olfactory bulb, tract, and trigone[BTO]." [BTO:0001362]	80031	\N	efo_slim	uberon	0	EFO	olfactory lobe	olfactory lobe
EFO:0000787	\N	efo_slim	"" []	UBERON:0005366	"Olfactory apparatus on the lower surface of the frontal lobe of the brain. It consists of the olfactory bulb, tract, and trigone[BTO]." [BTO:0001362]	196241	\N	\N	uberon	0	EFO	animal component	olfactory lobe
UBERON:0005383	\N	efo_slim	"Regional part of telencephalon in some species, e.g., rodent, equivalent to the dorsal striatum (caudate nucleus and putamen). Unlike the dorsal striatum of primates, for example, the caudoputamen is not split into separate nuclei by the fibers of the internal capsule. Rather, the internal capsule splits into fiber bundles which course through the structure." [NIF_GrossAnatomy:nlx_anat_100312]	UBERON:0005383	"Regional part of telencephalon in some species, e.g., rodent, equivalent to the dorsal striatum (caudate nucleus and putamen). Unlike the dorsal striatum of primates, for example, the caudoputamen is not split into separate nuclei by the fibers of the internal capsule. Rather, the internal capsule splits into fiber bundles which course through the structure." [NIF_GrossAnatomy:nlx_anat_100312]	80032	\N	efo_slim	uberon	0	EFO	caudate-putamen	caudate-putamen
EFO:0000787	\N	efo_slim	"" []	UBERON:0005383	"Regional part of telencephalon in some species, e.g., rodent, equivalent to the dorsal striatum (caudate nucleus and putamen). Unlike the dorsal striatum of primates, for example, the caudoputamen is not split into separate nuclei by the fibers of the internal capsule. Rather, the internal capsule splits into fiber bundles which course through the structure." [NIF_GrossAnatomy:nlx_anat_100312]	196242	\N	\N	uberon	0	EFO	animal component	caudate-putamen
UBERON:0005403	\N	efo_slim	"The ventral striatum is a portion of the striatum. It consists of the nucleus accumbens and the olfactory tubercle. Some sources also include the ventromedial parts of the caudate nucleus and putamen. It is considered a reward center." [Wikipedia:Ventral_striatum]	UBERON:0005403	"The ventral striatum is a portion of the striatum. It consists of the nucleus accumbens and the olfactory tubercle. Some sources also include the ventromedial parts of the caudate nucleus and putamen. It is considered a reward center." [Wikipedia:Ventral_striatum]	80034	\N	efo_slim	uberon	0	EFO	ventral striatum	ventral striatum
EFO:0000787	\N	efo_slim	"" []	UBERON:0005403	"The ventral striatum is a portion of the striatum. It consists of the nucleus accumbens and the olfactory tubercle. Some sources also include the ventromedial parts of the caudate nucleus and putamen. It is considered a reward center." [Wikipedia:Ventral_striatum]	196244	\N	\N	uberon	0	EFO	animal component	ventral striatum
UBERON:0005409	\N	\N	"" []	UBERON:0005409	"" []	80035	\N	\N	uberon	0	EFO	gastrointestinal system	gastrointestinal system
EFO:0000787	\N	\N	"" []	UBERON:0005409	"" []	196245	\N	\N	uberon	0	EFO	animal component	gastrointestinal system
UBERON:0005439	\N	efo_slim	"" []	UBERON:0005439	"" []	80036	\N	efo_slim	uberon	0	EFO	definitive endoderm	definitive endoderm
UBERON:0002050	UBERON:0005439	efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005439	"" []	225374	efo_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	definitive endoderm
UBERON:0005440	\N	efo_slim	"A fetal blood vessel connecting the pulmonary artery with the descending aorta[MESH]. In the developing fetus, the ductus arteriosus is a shunt connecting the pulmonary artery to the aortic arch. It allows most of the blood from the right ventricle to bypass the fetus' fluid-filled lungs, protecting the lungs from being overworked and allowing the left ventricle to strengthen. There are two other fetal shunts, the ductus venosus and the foramen ovale[MP]. the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth[MP]" [MESH:A07.541.278.395, MP:0010564, Wikipedia:Ductus_arteriosus]	UBERON:0005440	"A fetal blood vessel connecting the pulmonary artery with the descending aorta[MESH]. In the developing fetus, the ductus arteriosus is a shunt connecting the pulmonary artery to the aortic arch. It allows most of the blood from the right ventricle to bypass the fetus' fluid-filled lungs, protecting the lungs from being overworked and allowing the left ventricle to strengthen. There are two other fetal shunts, the ductus venosus and the foramen ovale[MP]. the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth[MP]" [MESH:A07.541.278.395, MP:0010564, Wikipedia:Ductus_arteriosus]	80037	\N	efo_slim	uberon	0	EFO	ductus arteriosus	ductus arteriosus
EFO:0001955	\N	efo_slim	"A heart component is an animal component that is part of some heart." []	UBERON:0005440	"A fetal blood vessel connecting the pulmonary artery with the descending aorta[MESH]. In the developing fetus, the ductus arteriosus is a shunt connecting the pulmonary artery to the aortic arch. It allows most of the blood from the right ventricle to bypass the fetus' fluid-filled lungs, protecting the lungs from being overworked and allowing the left ventricle to strengthen. There are two other fetal shunts, the ductus venosus and the foramen ovale[MP]. the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth[MP]" [MESH:A07.541.278.395, MP:0010564, Wikipedia:Ductus_arteriosus]	196246	\N	\N	uberon	0	EFO	heart component	ductus arteriosus
EFO:0002462	\N	efo_slim	"" []	UBERON:0005440	"A fetal blood vessel connecting the pulmonary artery with the descending aorta[MESH]. In the developing fetus, the ductus arteriosus is a shunt connecting the pulmonary artery to the aortic arch. It allows most of the blood from the right ventricle to bypass the fetus' fluid-filled lungs, protecting the lungs from being overworked and allowing the left ventricle to strengthen. There are two other fetal shunts, the ductus venosus and the foramen ovale[MP]. the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth[MP]" [MESH:A07.541.278.395, MP:0010564, Wikipedia:Ductus_arteriosus]	196247	\N	\N	uberon	0	EFO	foetal structure	ductus arteriosus
UBERON:0001637	UBERON:0005440	efo_slim	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0005440	"A fetal blood vessel connecting the pulmonary artery with the descending aorta[MESH]. In the developing fetus, the ductus arteriosus is a shunt connecting the pulmonary artery to the aortic arch. It allows most of the blood from the right ventricle to bypass the fetus' fluid-filled lungs, protecting the lungs from being overworked and allowing the left ventricle to strengthen. There are two other fetal shunts, the ductus venosus and the foramen ovale[MP]. the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth[MP]" [MESH:A07.541.278.395, MP:0010564, Wikipedia:Ductus_arteriosus]	225375	efo_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	ductus arteriosus
UBERON:0001981	UBERON:0001637	efo_slim	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0005440	"A fetal blood vessel connecting the pulmonary artery with the descending aorta[MESH]. In the developing fetus, the ductus arteriosus is a shunt connecting the pulmonary artery to the aortic arch. It allows most of the blood from the right ventricle to bypass the fetus' fluid-filled lungs, protecting the lungs from being overworked and allowing the left ventricle to strengthen. There are two other fetal shunts, the ductus venosus and the foramen ovale[MP]. the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth[MP]" [MESH:A07.541.278.395, MP:0010564, Wikipedia:Ductus_arteriosus]	582170	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	ductus arteriosus
UBERON:0005493	\N	efo_slim,grouping_class,vertebrate_core	"One of a group of muscles used in mastication and swallowing. These muscles are attached to the hyoid bone, which is suspended in the neck and forms the base of the tongue and larynx. In humans, the muscles are divided into suprahyoid (superior) or infrahyoid (inferior) groups relative to the bone[WP, generalized]." [http://www.answers.com/topic/hyoid-muscles]	UBERON:0005493	"One of a group of muscles used in mastication and swallowing. These muscles are attached to the hyoid bone, which is suspended in the neck and forms the base of the tongue and larynx. In humans, the muscles are divided into suprahyoid (superior) or infrahyoid (inferior) groups relative to the bone[WP, generalized]." [http://www.answers.com/topic/hyoid-muscles]	80038	\N	efo_slim,grouping_class,vertebrate_core	uberon	0	EFO	hyoid muscle	hyoid muscle
EFO:0003331	\N	efo_slim,grouping_class,vertebrate_core	"" []	UBERON:0005493	"One of a group of muscles used in mastication and swallowing. These muscles are attached to the hyoid bone, which is suspended in the neck and forms the base of the tongue and larynx. In humans, the muscles are divided into suprahyoid (superior) or infrahyoid (inferior) groups relative to the bone[WP, generalized]." [http://www.answers.com/topic/hyoid-muscles]	196248	\N	\N	uberon	0	EFO	zebrafish component	hyoid muscle
UBERON:0005497	\N	efo_slim,vertebrate_core	"" []	UBERON:0005497	"" []	80039	\N	efo_slim,vertebrate_core	uberon	0	EFO	non-neural ectoderm	non-neural ectoderm
EFO:0000787	\N	efo_slim,vertebrate_core	"" []	UBERON:0005497	"" []	196249	\N	\N	uberon	0	EFO	animal component	non-neural ectoderm
UBERON:0005499	\N	efo_slim,vertebrate_core	"Hindbrain segment or neuromere 1." [ZFA:0001031]	UBERON:0005499	"Hindbrain segment or neuromere 1." [ZFA:0001031]	80040	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 1	rhombomere 1
UBERON:0001892	UBERON:0005499	efo_slim,vertebrate_core	"A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]." [Wikipedia:Rhombomere, ZFIN:curator]	UBERON:0005499	"Hindbrain segment or neuromere 1." [ZFA:0001031]	225376	efo_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	rhombomere	rhombomere 1
UBERON:0002050	UBERON:0001892	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005499	"Hindbrain segment or neuromere 1." [ZFA:0001031]	582171	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	rhombomere 1
UBERON:0005507	\N	efo_slim,vertebrate_core	"" []	UBERON:0005507	"" []	80041	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 3	rhombomere 3
UBERON:0001892	UBERON:0005507	efo_slim,vertebrate_core	"A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]." [Wikipedia:Rhombomere, ZFIN:curator]	UBERON:0005507	"" []	225377	efo_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	rhombomere	rhombomere 3
UBERON:0002050	UBERON:0001892	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005507	"" []	582172	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	rhombomere 3
UBERON:0005511	\N	efo_slim,vertebrate_core	"" []	UBERON:0005511	"" []	80042	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 4	rhombomere 4
UBERON:0001892	UBERON:0005511	efo_slim,vertebrate_core	"A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]." [Wikipedia:Rhombomere, ZFIN:curator]	UBERON:0005511	"" []	225378	efo_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	rhombomere	rhombomere 4
UBERON:0002050	UBERON:0001892	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005511	"" []	582173	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	rhombomere 4
UBERON:0005515	\N	efo_slim,vertebrate_core	"" []	UBERON:0005515	"" []	80043	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 5	rhombomere 5
UBERON:0001892	UBERON:0005515	efo_slim,vertebrate_core	"A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]." [Wikipedia:Rhombomere, ZFIN:curator]	UBERON:0005515	"" []	225379	efo_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	rhombomere	rhombomere 5
UBERON:0002050	UBERON:0001892	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005515	"" []	582174	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	rhombomere 5
UBERON:0005519	\N	efo_slim,vertebrate_core	"" []	UBERON:0005519	"" []	80044	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 6	rhombomere 6
UBERON:0001892	UBERON:0005519	efo_slim,vertebrate_core	"A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]." [Wikipedia:Rhombomere, ZFIN:curator]	UBERON:0005519	"" []	225380	efo_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	rhombomere	rhombomere 6
UBERON:0002050	UBERON:0001892	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005519	"" []	582175	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	rhombomere 6
UBERON:0005523	\N	efo_slim,vertebrate_core	"" []	UBERON:0005523	"" []	80045	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 7	rhombomere 7
UBERON:0001892	UBERON:0005523	efo_slim,vertebrate_core	"A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]." [Wikipedia:Rhombomere, ZFIN:curator]	UBERON:0005523	"" []	225381	efo_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	rhombomere	rhombomere 7
UBERON:0002050	UBERON:0001892	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005523	"" []	582176	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	rhombomere 7
UBERON:0005527	\N	efo_slim,vertebrate_core	"" []	UBERON:0005527	"" []	80046	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 8	rhombomere 8
UBERON:0001892	UBERON:0005527	efo_slim,vertebrate_core	"A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]." [Wikipedia:Rhombomere, ZFIN:curator]	UBERON:0005527	"" []	225382	efo_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	rhombomere	rhombomere 8
UBERON:0002050	UBERON:0001892	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005527	"" []	582177	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	rhombomere 8
UBERON:0005562	\N	efo_slim,vertebrate_core	"A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]." [ZFA:0001077]	UBERON:0005562	"A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]." [ZFA:0001077]	80047	\N	efo_slim,vertebrate_core	uberon	0	EFO	thymus primordium	thymus primordium
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0005562	"A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]." [ZFA:0001077]	196250	\N	\N	uberon	0	EFO	zebrafish component	thymus primordium
UBERON:0001048	UBERON:0005562	efo_slim,vertebrate_core	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	UBERON:0005562	"A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]." [ZFA:0001077]	225383	efo_slim,vertebrate_core	efo_slim,uberon_slim	uberon	1	EFO	primordium	thymus primordium
UBERON:0005563	\N	efo_slim,vertebrate_core	"Cranial neural crest which gives rise to the trigeminal ganglion." [ZFA:0000080]	UBERON:0005563	"Cranial neural crest which gives rise to the trigeminal ganglion." [ZFA:0000080]	80048	\N	efo_slim,vertebrate_core	uberon	0	EFO	trigeminal neural crest	trigeminal neural crest
UBERON:0003099	UBERON:0005563	efo_slim,vertebrate_core	"The cranial neural crest arises in the anterior and populates the face and the pharyngeal arches giving rise to bones, cartilage, nerves and connective tissue [Wikipedia]." [Wikipedia:Cranial_neural_crest, ZFA:0001194, ZFIN:curator]	UBERON:0005563	"Cranial neural crest which gives rise to the trigeminal ganglion." [ZFA:0000080]	225384	efo_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	cranial neural crest	trigeminal neural crest
UBERON:0007213	UBERON:0005563	efo_slim,vertebrate_core	"Mesenchyme that develops_from a cranial neural crest." [OBOL:automatic]	UBERON:0005563	"Cranial neural crest which gives rise to the trigeminal ganglion." [ZFA:0000080]	225385	efo_slim,vertebrate_core	efo_slim,vertebrate_core	uberon	1	EFO	mesenchyme derived from head neural crest	trigeminal neural crest
UBERON:0002050	UBERON:0003099	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005563	"Cranial neural crest which gives rise to the trigeminal ganglion." [ZFA:0000080]	582178	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	trigeminal neural crest
UBERON:0005253	UBERON:0007213	efo_slim,vertebrate_core	"Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells." [ISBN:0683400088, MP:0011260]	UBERON:0005563	"Cranial neural crest which gives rise to the trigeminal ganglion." [ZFA:0000080]	582179	efo_slim,vertebrate_core	efo_slim,vertebrate_core	uberon	2	EFO	head mesenchyme	trigeminal neural crest
UBERON:0005564	\N	efo_slim,grouping_class,vertebrate_core	"Portion of tissue that gives rise to the immature gonad." [ZFA:0001262]	UBERON:0005564	"Portion of tissue that gives rise to the immature gonad." [ZFA:0001262]	80049	\N	efo_slim,grouping_class,vertebrate_core	uberon	0	EFO	gonad primordium	gonad primordium
EFO:0003331	\N	efo_slim,grouping_class,vertebrate_core	"" []	UBERON:0005564	"Portion of tissue that gives rise to the immature gonad." [ZFA:0001262]	196251	\N	\N	uberon	0	EFO	zebrafish component	gonad primordium
UBERON:0001048	UBERON:0005564	efo_slim,grouping_class,vertebrate_core	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	UBERON:0005564	"Portion of tissue that gives rise to the immature gonad." [ZFA:0001262]	225386	efo_slim,grouping_class,vertebrate_core	efo_slim,uberon_slim	uberon	1	EFO	primordium	gonad primordium
UBERON:0005566	\N	efo_slim,vertebrate_core	"Floor plate that is part of the rhombomere 1." []	UBERON:0005566	"Floor plate that is part of the rhombomere 1." []	80050	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 1 floor plate	rhombomere 1 floor plate
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0005566	"Floor plate that is part of the rhombomere 1." []	196252	\N	\N	uberon	0	EFO	zebrafish component	rhombomere 1 floor plate
UBERON:0002050	UBERON:0005566	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005566	"Floor plate that is part of the rhombomere 1." []	225387	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	rhombomere 1 floor plate
UBERON:0005569	\N	efo_slim,vertebrate_core	"" []	UBERON:0005569	"" []	80051	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 2	rhombomere 2
UBERON:0001892	UBERON:0005569	efo_slim,vertebrate_core	"A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]." [Wikipedia:Rhombomere, ZFIN:curator]	UBERON:0005569	"" []	225388	efo_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	rhombomere	rhombomere 2
UBERON:0002050	UBERON:0001892	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005569	"" []	582180	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	rhombomere 2
UBERON:0005570	\N	efo_slim,vertebrate_core	"Floor plate that is part of the rhombomere 2." []	UBERON:0005570	"Floor plate that is part of the rhombomere 2." []	80052	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 2 floor plate	rhombomere 2 floor plate
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0005570	"Floor plate that is part of the rhombomere 2." []	196253	\N	\N	uberon	0	EFO	zebrafish component	rhombomere 2 floor plate
UBERON:0002050	UBERON:0005570	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005570	"Floor plate that is part of the rhombomere 2." []	225389	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	rhombomere 2 floor plate
UBERON:0005573	\N	efo_slim,vertebrate_core	"Floor plate that is part of the rhombomere 3." []	UBERON:0005573	"Floor plate that is part of the rhombomere 3." []	80053	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 3 floor plate	rhombomere 3 floor plate
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0005573	"Floor plate that is part of the rhombomere 3." []	196254	\N	\N	uberon	0	EFO	zebrafish component	rhombomere 3 floor plate
UBERON:0002050	UBERON:0005573	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005573	"Floor plate that is part of the rhombomere 3." []	225390	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	rhombomere 3 floor plate
UBERON:0005576	\N	efo_slim,vertebrate_core	"Floor plate that is part of the rhombomere 4." []	UBERON:0005576	"Floor plate that is part of the rhombomere 4." []	80054	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 4 floor plate	rhombomere 4 floor plate
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0005576	"Floor plate that is part of the rhombomere 4." []	196255	\N	\N	uberon	0	EFO	zebrafish component	rhombomere 4 floor plate
UBERON:0002050	UBERON:0005576	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005576	"Floor plate that is part of the rhombomere 4." []	225391	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	rhombomere 4 floor plate
UBERON:0005579	\N	efo_slim,vertebrate_core	"Floor plate that is part of the rhombomere 5." []	UBERON:0005579	"Floor plate that is part of the rhombomere 5." []	80055	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 5 floor plate	rhombomere 5 floor plate
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0005579	"Floor plate that is part of the rhombomere 5." []	196256	\N	\N	uberon	0	EFO	zebrafish component	rhombomere 5 floor plate
UBERON:0002050	UBERON:0005579	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005579	"Floor plate that is part of the rhombomere 5." []	225392	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	rhombomere 5 floor plate
UBERON:0005582	\N	efo_slim,vertebrate_core	"Floor plate that is part of the rhombomere 6." []	UBERON:0005582	"Floor plate that is part of the rhombomere 6." []	80056	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 6 floor plate	rhombomere 6 floor plate
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0005582	"Floor plate that is part of the rhombomere 6." []	196257	\N	\N	uberon	0	EFO	zebrafish component	rhombomere 6 floor plate
UBERON:0002050	UBERON:0005582	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005582	"Floor plate that is part of the rhombomere 6." []	225393	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	rhombomere 6 floor plate
UBERON:0005585	\N	efo_slim,vertebrate_core	"Floor plate that is part of the rhombomere 7." []	UBERON:0005585	"Floor plate that is part of the rhombomere 7." []	80057	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 7 floor plate	rhombomere 7 floor plate
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0005585	"Floor plate that is part of the rhombomere 7." []	196258	\N	\N	uberon	0	EFO	zebrafish component	rhombomere 7 floor plate
UBERON:0002050	UBERON:0005585	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005585	"Floor plate that is part of the rhombomere 7." []	225394	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	rhombomere 7 floor plate
UBERON:0005588	\N	efo_slim,vertebrate_core	"Floor plate that is part of the rhombomere 8." []	UBERON:0005588	"Floor plate that is part of the rhombomere 8." []	80058	\N	efo_slim,vertebrate_core	uberon	0	EFO	rhombomere 8 floor plate	rhombomere 8 floor plate
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0005588	"Floor plate that is part of the rhombomere 8." []	196259	\N	\N	uberon	0	EFO	zebrafish component	rhombomere 8 floor plate
UBERON:0002050	UBERON:0005588	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0005588	"Floor plate that is part of the rhombomere 8." []	225395	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	rhombomere 8 floor plate
UBERON:0005721	\N	efo_slim	"A mesoderm that develops_into a pronephros." [OBOL:automatic]	UBERON:0005721	"A mesoderm that develops_into a pronephros." [OBOL:automatic]	80059	\N	efo_slim	uberon	0	EFO	pronephric mesoderm	pronephric mesoderm
EFO:0003331	\N	efo_slim	"" []	UBERON:0005721	"A mesoderm that develops_into a pronephros." [OBOL:automatic]	196260	\N	\N	uberon	0	EFO	zebrafish component	pronephric mesoderm
UBERON:0005725	\N	efo_slim,vertebrate_core	"A sensory system that is capable of olfacttion (the sensory perception of smell)." [UBERON:cjm]	UBERON:0005725	"A sensory system that is capable of olfacttion (the sensory perception of smell)." [UBERON:cjm]	80060	\N	efo_slim,vertebrate_core	uberon	0	EFO	olfactory system	olfactory system
UBERON:0000467	\N	efo_slim,vertebrate_core	"Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia]." []	UBERON:0005725	"A sensory system that is capable of olfacttion (the sensory perception of smell)." [UBERON:cjm]	196261	\N	\N	uberon	0	EFO	anatomical system	olfactory system
UBERON:0005870	\N	efo_slim	"An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO]." [GO:0060166, Wikipedia:Nasal_pit]	UBERON:0005870	"An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO]." [GO:0060166, Wikipedia:Nasal_pit]	80061	\N	efo_slim	uberon	0	EFO	olfactory pit	olfactory pit
EFO:0003331	\N	efo_slim	"" []	UBERON:0005870	"An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO]." [GO:0060166, Wikipedia:Nasal_pit]	196262	\N	\N	uberon	0	EFO	zebrafish component	olfactory pit
UBERON:0000004	\N	efo_slim	"the organ that is specialized for smell and is part of the respiratory system [database_cross_reference: MP:0002233,MESH:A01.456.505.733,MGI:cwg]" []	UBERON:0005870	"An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO]." [GO:0060166, Wikipedia:Nasal_pit]	196263	\N	\N	uberon	0	EFO	olfactory apparatus	olfactory pit
UBERON:0005945	\N	efo_slim	"" []	UBERON:0005945	"" []	80062	\N	efo_slim	uberon	0	EFO	neurocranial trabecula	neurocranial trabecula
UBERON:0003932	UBERON:0005945	efo_slim	"A cartilage element of chondrocranium. Example: neurocranial trabecula." [https://orcid.org/0000-0002-6601-2165]	UBERON:0005945	"" []	225396	efo_slim	efo_slim	uberon	1	EFO	cartilage element of chondrocranium	neurocranial trabecula
UBERON:0006083	\N	efo_slim	"" []	UBERON:0006083	"" []	80063	\N	efo_slim	uberon	0	EFO	Perirhinal cortex	Perirhinal cortex
EFO:0000787	\N	efo_slim	"" []	UBERON:0006083	"" []	196264	\N	\N	uberon	0	EFO	animal component	Perirhinal cortex
UBERON:0006241	\N	efo_slim,vertebrate_core	"" []	UBERON:0006241	"" []	80068	\N	efo_slim,vertebrate_core	uberon	0	EFO	future spinal cord	future spinal cord
EFO:0003332	\N	efo_slim,vertebrate_core	"" []	UBERON:0006241	"" []	196266	\N	\N	uberon	0	EFO	zebrafish embryonic structure	future spinal cord
UBERON:0006334	\N	dubious_grouping,efo_slim	"One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" [ZFA:0000944]	UBERON:0006334	"One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" [ZFA:0000944]	80070	\N	dubious_grouping,efo_slim	uberon	0	EFO	posterior lateral line	posterior lateral line
EFO:0003331	\N	dubious_grouping,efo_slim	"" []	UBERON:0006334	"One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" [ZFA:0000944]	196267	\N	\N	uberon	0	EFO	zebrafish component	posterior lateral line
UBERON:0006530	\N	\N	"\\nThe fluid portion of the semen, in which the spermatozoa are suspended[BTO].\\n" []	UBERON:0006530	"\\nThe fluid portion of the semen, in which the spermatozoa are suspended[BTO].\\n" []	80072	\N	\N	uberon	0	EFO	seminal fluid	seminal fluid
UBERON:0006314	\N	\N	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	UBERON:0006530	"\\nThe fluid portion of the semen, in which the spermatozoa are suspended[BTO].\\n" []	196269	\N	\N	uberon	0	EFO	bodily fluid	seminal fluid
UBERON:0006595	\N	efo_slim	"" []	UBERON:0006595	"" []	80074	\N	efo_slim	uberon	0	EFO	presumptive endoderm	presumptive endoderm
EFO:0000787	\N	efo_slim	"" []	UBERON:0006595	"" []	196270	\N	\N	uberon	0	EFO	animal component	presumptive endoderm
UBERON:0006596	\N	efo_slim	"" []	UBERON:0006596	"" []	80075	\N	efo_slim	uberon	0	EFO	presumptive blood	presumptive blood
EFO:0003332	\N	efo_slim	"" []	UBERON:0006596	"" []	196271	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive blood
UBERON:0006599	\N	efo_slim	"" []	UBERON:0006599	"" []	80077	\N	efo_slim	uberon	0	EFO	presumptive hypochord	presumptive hypochord
EFO:0003332	\N	efo_slim	"" []	UBERON:0006599	"" []	196272	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive hypochord
UBERON:0006600	\N	efo_slim	"" []	UBERON:0006600	"" []	80078	\N	efo_slim	uberon	0	EFO	presumptive enteric nervous system	presumptive enteric nervous system
EFO:0003332	\N	efo_slim	"" []	UBERON:0006600	"" []	196273	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive enteric nervous system
UBERON:0006601	\N	efo_slim	"" []	UBERON:0006601	"" []	80079	\N	efo_slim	uberon	0	EFO	presumptive ectoderm	presumptive ectoderm
EFO:0003332	\N	efo_slim	"" []	UBERON:0006601	"" []	196274	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive ectoderm
UBERON:0006603	\N	efo_slim	"" []	UBERON:0006603	"" []	80080	\N	efo_slim	uberon	0	EFO	presumptive mesoderm	presumptive mesoderm
EFO:0003332	\N	efo_slim	"" []	UBERON:0006603	"" []	196275	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive mesoderm
UBERON:0006676	\N	\N	"A the thin layer of smooth muscle found in most parts of the gastrointestinal tract, located outside the lamina propria mucosae and separating it from the submucosa[WP]." []	UBERON:0006676	"A the thin layer of smooth muscle found in most parts of the gastrointestinal tract, located outside the lamina propria mucosae and separating it from the submucosa[WP]." []	80082	\N	\N	uberon	0	EFO	muscularis mucosa	muscularis mucosa
EFO:0000889	\N	\N	"Visceral muscle of the adult." []	UBERON:0006676	"A the thin layer of smooth muscle found in most parts of the gastrointestinal tract, located outside the lamina propria mucosae and separating it from the submucosa[WP]." []	196276	\N	\N	uberon	0	EFO	smooth muscle	muscularis mucosa
UBERON:0006860	\N	efo_slim,organ_slim	"A thin membranous, sometimes alveolated sac in the dorsal portion of the abdominal cavity. Contains a varying mixture of gases, not identical to the composition of air. May be one, two or three chambered. May be connected to the gut by a tube, the ductus pneumaticus (then called physostomous) or unconnected (then called physoclistous). May function as one or more of:- hydrostatic organ, sound producing organ, sound receptor, respiratory organ. Found in Actinopterygii. Often lacking in bottom fishes." [http://www.briancoad.com/Dictionary/S.htm]	UBERON:0006860	"A thin membranous, sometimes alveolated sac in the dorsal portion of the abdominal cavity. Contains a varying mixture of gases, not identical to the composition of air. May be one, two or three chambered. May be connected to the gut by a tube, the ductus pneumaticus (then called physostomous) or unconnected (then called physoclistous). May function as one or more of:- hydrostatic organ, sound producing organ, sound receptor, respiratory organ. Found in Actinopterygii. Often lacking in bottom fishes." [http://www.briancoad.com/Dictionary/S.htm]	80085	\N	efo_slim,organ_slim	uberon	0	EFO	swim bladder	swim bladder
EFO:0003331	\N	efo_slim,organ_slim	"" []	UBERON:0006860	"A thin membranous, sometimes alveolated sac in the dorsal portion of the abdominal cavity. Contains a varying mixture of gases, not identical to the composition of air. May be one, two or three chambered. May be connected to the gut by a tube, the ductus pneumaticus (then called physostomous) or unconnected (then called physoclistous). May function as one or more of:- hydrostatic organ, sound producing organ, sound receptor, respiratory organ. Found in Actinopterygii. Often lacking in bottom fishes." [http://www.briancoad.com/Dictionary/S.htm]	196278	\N	\N	uberon	0	EFO	zebrafish component	swim bladder
UBERON:0006904	\N	efo_slim,vertebrate_core	"A head mesenchyme that develops_from a mesoderm." [OBOL:automatic]	UBERON:0006904	"A head mesenchyme that develops_from a mesoderm." [OBOL:automatic]	80088	\N	efo_slim,vertebrate_core	uberon	0	EFO	head mesenchyme from mesoderm	head mesenchyme from mesoderm
UBERON:0005253	UBERON:0006904	efo_slim,vertebrate_core	"Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells." [ISBN:0683400088, MP:0011260]	UBERON:0006904	"A head mesenchyme that develops_from a mesoderm." [OBOL:automatic]	225397	efo_slim,vertebrate_core	efo_slim,vertebrate_core	uberon	1	EFO	head mesenchyme	head mesenchyme from mesoderm
UBERON:0006965	\N	efo_slim	"The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]." [GO:0072360, ZFA:0005077]	UBERON:0006965	"The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]." [GO:0072360, ZFA:0005077]	80090	\N	efo_slim	uberon	0	EFO	vascular cord	vascular cord
EFO:0003331	\N	efo_slim	"" []	UBERON:0006965	"The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]." [GO:0072360, ZFA:0005077]	196281	\N	\N	uberon	0	EFO	zebrafish component	vascular cord
UBERON:0007097	\N	efo_slim	"Portion of tissue that is posterior to the developing notochord during tail bud extension." [http://dev.biologists.org/content/136/10/1591.full, ZFA:0001082]	UBERON:0007097	"Portion of tissue that is posterior to the developing notochord during tail bud extension." [http://dev.biologists.org/content/136/10/1591.full, ZFA:0001082]	80091	\N	efo_slim	uberon	0	EFO	chordo neural hinge	chordo neural hinge
EFO:0003331	\N	efo_slim	"" []	UBERON:0007097	"Portion of tissue that is posterior to the developing notochord during tail bud extension." [http://dev.biologists.org/content/136/10/1591.full, ZFA:0001082]	196282	\N	\N	uberon	0	EFO	zebrafish component	chordo neural hinge
UBERON:0002050	UBERON:0007097	efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0007097	"Portion of tissue that is posterior to the developing notochord during tail bud extension." [http://dev.biologists.org/content/136/10/1591.full, ZFA:0001082]	225398	efo_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	chordo neural hinge
UBERON:0007113	\N	grouping_class	"\\nPoisonous animal secretions forming fluid mixtures of many different enzymes, toxins, and other substances. These substances are produced in specialized glands and secreted through specialized delivery systems (nematocysts, spines, fangs, etc.) for disabling prey or predator.\\n" []	UBERON:0007113	"\\nPoisonous animal secretions forming fluid mixtures of many different enzymes, toxins, and other substances. These substances are produced in specialized glands and secreted through specialized delivery systems (nematocysts, spines, fangs, etc.) for disabling prey or predator.\\n" []	80092	\N	grouping_class	uberon	0	EFO	venom	venom
UBERON:0006314	\N	grouping_class	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	UBERON:0007113	"\\nPoisonous animal secretions forming fluid mixtures of many different enzymes, toxins, and other substances. These substances are produced in specialized glands and secreted through specialized delivery systems (nematocysts, spines, fangs, etc.) for disabling prey or predator.\\n" []	196283	\N	\N	uberon	0	EFO	bodily fluid	venom
UBERON:0007122	\N	efo_slim,vertebrate_core	"The endoderm lines the future auditory tube (Pharyngotympanic Eustachian tube) , middle ear, mastoid antrum, and inner layer of the tympanic membrane. & origin of Mandibular nerve & Maxillary artery[WP]. The first pouch lies between the first and second arches[PMID]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#First_pouch]	UBERON:0007122	"The endoderm lines the future auditory tube (Pharyngotympanic Eustachian tube) , middle ear, mastoid antrum, and inner layer of the tympanic membrane. & origin of Mandibular nerve & Maxillary artery[WP]. The first pouch lies between the first and second arches[PMID]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#First_pouch]	80093	\N	efo_slim,vertebrate_core	uberon	0	EFO	pharyngeal pouch 1	pharyngeal pouch 1
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0007122	"The endoderm lines the future auditory tube (Pharyngotympanic Eustachian tube) , middle ear, mastoid antrum, and inner layer of the tympanic membrane. & origin of Mandibular nerve & Maxillary artery[WP]. The first pouch lies between the first and second arches[PMID]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#First_pouch]	196284	\N	\N	uberon	0	EFO	zebrafish component	pharyngeal pouch 1
UBERON:0004117	UBERON:0007122	efo_slim,vertebrate_core	"embryonic structure that forms on the endodermal side between the pharyngeal arches, and pharyngeal grooves (or clefts) form the lateral ectodermal surface of the neck region to separate the arches. The pouches line up with the clefts, and these thin segments become gills in fish[WP]. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits[ZFA]." [Wikipedia:Pharyngeal_pouch_(embryology)]	UBERON:0007122	"The endoderm lines the future auditory tube (Pharyngotympanic Eustachian tube) , middle ear, mastoid antrum, and inner layer of the tympanic membrane. & origin of Mandibular nerve & Maxillary artery[WP]. The first pouch lies between the first and second arches[PMID]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#First_pouch]	225399	efo_slim,vertebrate_core	efo_slim,vertebrate_core	uberon	1	EFO	pharyngeal pouch	pharyngeal pouch 1
UBERON:0002050	UBERON:0004117	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0007122	"The endoderm lines the future auditory tube (Pharyngotympanic Eustachian tube) , middle ear, mastoid antrum, and inner layer of the tympanic membrane. & origin of Mandibular nerve & Maxillary artery[WP]. The first pouch lies between the first and second arches[PMID]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#First_pouch]	582181	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	pharyngeal pouch 1
UBERON:0007123	\N	efo_slim,vertebrate_core	"The second pouch between the second and third arches. Contributes to the middle ear, epithelial lining of Crypts (spaces) of the palatine tonsils, supplied by the facial nerve[WP]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Second_pouch]	UBERON:0007123	"The second pouch between the second and third arches. Contributes to the middle ear, epithelial lining of Crypts (spaces) of the palatine tonsils, supplied by the facial nerve[WP]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Second_pouch]	80094	\N	efo_slim,vertebrate_core	uberon	0	EFO	pharyngeal pouch 2	pharyngeal pouch 2
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0007123	"The second pouch between the second and third arches. Contributes to the middle ear, epithelial lining of Crypts (spaces) of the palatine tonsils, supplied by the facial nerve[WP]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Second_pouch]	196285	\N	\N	uberon	0	EFO	zebrafish component	pharyngeal pouch 2
UBERON:0004117	UBERON:0007123	efo_slim,vertebrate_core	"embryonic structure that forms on the endodermal side between the pharyngeal arches, and pharyngeal grooves (or clefts) form the lateral ectodermal surface of the neck region to separate the arches. The pouches line up with the clefts, and these thin segments become gills in fish[WP]. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits[ZFA]." [Wikipedia:Pharyngeal_pouch_(embryology)]	UBERON:0007123	"The second pouch between the second and third arches. Contributes to the middle ear, epithelial lining of Crypts (spaces) of the palatine tonsils, supplied by the facial nerve[WP]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Second_pouch]	225400	efo_slim,vertebrate_core	efo_slim,vertebrate_core	uberon	1	EFO	pharyngeal pouch	pharyngeal pouch 2
UBERON:0002050	UBERON:0004117	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0007123	"The second pouch between the second and third arches. Contributes to the middle ear, epithelial lining of Crypts (spaces) of the palatine tonsils, supplied by the facial nerve[WP]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Second_pouch]	582182	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	pharyngeal pouch 2
UBERON:0007124	\N	efo_slim,vertebrate_core	"The third pouch possesses Dorsal and Ventral wings. Derivatives of the dorsal wings include the inferior parathyroid glands, while the ventral wings fuse to form the cytoreticular cells of the thymus. The main nerve supply to the derivatives of this pouch is Cranial Nerve IX, glossopharyngeal nerve[WP]. The third pouch lies between the third and fourth arches[PMID]." [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Third_pouch]	UBERON:0007124	"The third pouch possesses Dorsal and Ventral wings. Derivatives of the dorsal wings include the inferior parathyroid glands, while the ventral wings fuse to form the cytoreticular cells of the thymus. The main nerve supply to the derivatives of this pouch is Cranial Nerve IX, glossopharyngeal nerve[WP]. The third pouch lies between the third and fourth arches[PMID]." [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Third_pouch]	80095	\N	efo_slim,vertebrate_core	uberon	0	EFO	pharyngeal pouch 3	pharyngeal pouch 3
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0007124	"The third pouch possesses Dorsal and Ventral wings. Derivatives of the dorsal wings include the inferior parathyroid glands, while the ventral wings fuse to form the cytoreticular cells of the thymus. The main nerve supply to the derivatives of this pouch is Cranial Nerve IX, glossopharyngeal nerve[WP]. The third pouch lies between the third and fourth arches[PMID]." [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Third_pouch]	196286	\N	\N	uberon	0	EFO	zebrafish component	pharyngeal pouch 3
UBERON:0004117	UBERON:0007124	efo_slim,vertebrate_core	"embryonic structure that forms on the endodermal side between the pharyngeal arches, and pharyngeal grooves (or clefts) form the lateral ectodermal surface of the neck region to separate the arches. The pouches line up with the clefts, and these thin segments become gills in fish[WP]. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits[ZFA]." [Wikipedia:Pharyngeal_pouch_(embryology)]	UBERON:0007124	"The third pouch possesses Dorsal and Ventral wings. Derivatives of the dorsal wings include the inferior parathyroid glands, while the ventral wings fuse to form the cytoreticular cells of the thymus. The main nerve supply to the derivatives of this pouch is Cranial Nerve IX, glossopharyngeal nerve[WP]. The third pouch lies between the third and fourth arches[PMID]." [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Third_pouch]	225401	efo_slim,vertebrate_core	efo_slim,vertebrate_core	uberon	1	EFO	pharyngeal pouch	pharyngeal pouch 3
UBERON:0002050	UBERON:0004117	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0007124	"The third pouch possesses Dorsal and Ventral wings. Derivatives of the dorsal wings include the inferior parathyroid glands, while the ventral wings fuse to form the cytoreticular cells of the thymus. The main nerve supply to the derivatives of this pouch is Cranial Nerve IX, glossopharyngeal nerve[WP]. The third pouch lies between the third and fourth arches[PMID]." [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Third_pouch]	582183	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	pharyngeal pouch 3
UBERON:0007125	\N	efo_slim,vertebrate_core	"A pouch that is situated between the 4th and 5th pharyngeal arch[Bard]. Derivatives include: superior parathyroid glands and ultimobranchial body which forms the parafollicular C-Cells of the thyroid gland.    Musculature and cartilage of larynx (along with the sixth pharyngeal pouch)[WP]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Fourth_pouch]	UBERON:0007125	"A pouch that is situated between the 4th and 5th pharyngeal arch[Bard]. Derivatives include: superior parathyroid glands and ultimobranchial body which forms the parafollicular C-Cells of the thyroid gland.    Musculature and cartilage of larynx (along with the sixth pharyngeal pouch)[WP]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Fourth_pouch]	80096	\N	efo_slim,vertebrate_core	uberon	0	EFO	pharyngeal pouch 4	pharyngeal pouch 4
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0007125	"A pouch that is situated between the 4th and 5th pharyngeal arch[Bard]. Derivatives include: superior parathyroid glands and ultimobranchial body which forms the parafollicular C-Cells of the thyroid gland.    Musculature and cartilage of larynx (along with the sixth pharyngeal pouch)[WP]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Fourth_pouch]	196287	\N	\N	uberon	0	EFO	zebrafish component	pharyngeal pouch 4
UBERON:0004117	UBERON:0007125	efo_slim,vertebrate_core	"embryonic structure that forms on the endodermal side between the pharyngeal arches, and pharyngeal grooves (or clefts) form the lateral ectodermal surface of the neck region to separate the arches. The pouches line up with the clefts, and these thin segments become gills in fish[WP]. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits[ZFA]." [Wikipedia:Pharyngeal_pouch_(embryology)]	UBERON:0007125	"A pouch that is situated between the 4th and 5th pharyngeal arch[Bard]. Derivatives include: superior parathyroid glands and ultimobranchial body which forms the parafollicular C-Cells of the thyroid gland.    Musculature and cartilage of larynx (along with the sixth pharyngeal pouch)[WP]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Fourth_pouch]	225402	efo_slim,vertebrate_core	efo_slim,vertebrate_core	uberon	1	EFO	pharyngeal pouch	pharyngeal pouch 4
UBERON:0002050	UBERON:0004117	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0007125	"A pouch that is situated between the 4th and 5th pharyngeal arch[Bard]. Derivatives include: superior parathyroid glands and ultimobranchial body which forms the parafollicular C-Cells of the thyroid gland.    Musculature and cartilage of larynx (along with the sixth pharyngeal pouch)[WP]" [PMID:16313389, Wikipedia:Pharyngeal_pouch_(embryology)#Fourth_pouch]	582184	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	pharyngeal pouch 4
UBERON:0007126	\N	efo_slim,vertebrate_core	"Rudimentary structure, becomes part of the fourth pouch contributing to thyroid C-cells[WP]." [Wikipedia:Pharyngeal_pouch_(embryology)#Fifth_pouch]	UBERON:0007126	"Rudimentary structure, becomes part of the fourth pouch contributing to thyroid C-cells[WP]." [Wikipedia:Pharyngeal_pouch_(embryology)#Fifth_pouch]	80097	\N	efo_slim,vertebrate_core	uberon	0	EFO	pharyngeal pouch 5	pharyngeal pouch 5
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0007126	"Rudimentary structure, becomes part of the fourth pouch contributing to thyroid C-cells[WP]." [Wikipedia:Pharyngeal_pouch_(embryology)#Fifth_pouch]	196288	\N	\N	uberon	0	EFO	zebrafish component	pharyngeal pouch 5
UBERON:0004117	UBERON:0007126	efo_slim,vertebrate_core	"embryonic structure that forms on the endodermal side between the pharyngeal arches, and pharyngeal grooves (or clefts) form the lateral ectodermal surface of the neck region to separate the arches. The pouches line up with the clefts, and these thin segments become gills in fish[WP]. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits[ZFA]." [Wikipedia:Pharyngeal_pouch_(embryology)]	UBERON:0007126	"Rudimentary structure, becomes part of the fourth pouch contributing to thyroid C-cells[WP]." [Wikipedia:Pharyngeal_pouch_(embryology)#Fifth_pouch]	225403	efo_slim,vertebrate_core	efo_slim,vertebrate_core	uberon	1	EFO	pharyngeal pouch	pharyngeal pouch 5
UBERON:0002050	UBERON:0004117	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0007126	"Rudimentary structure, becomes part of the fourth pouch contributing to thyroid C-cells[WP]." [Wikipedia:Pharyngeal_pouch_(embryology)#Fifth_pouch]	582185	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	pharyngeal pouch 5
UBERON:0007127	\N	efo_slim,vertebrate_core	"Along with the fourth pouch, contributes to the formation of the musculature and cartilage of the larynx[WP]." [Wikipedia:Pharyngeal_pouch_(embryology)#Sixth_pouch]	UBERON:0007127	"Along with the fourth pouch, contributes to the formation of the musculature and cartilage of the larynx[WP]." [Wikipedia:Pharyngeal_pouch_(embryology)#Sixth_pouch]	80098	\N	efo_slim,vertebrate_core	uberon	0	EFO	pharyngeal pouch 6	pharyngeal pouch 6
EFO:0003331	\N	efo_slim,vertebrate_core	"" []	UBERON:0007127	"Along with the fourth pouch, contributes to the formation of the musculature and cartilage of the larynx[WP]." [Wikipedia:Pharyngeal_pouch_(embryology)#Sixth_pouch]	196289	\N	\N	uberon	0	EFO	zebrafish component	pharyngeal pouch 6
UBERON:0004117	UBERON:0007127	efo_slim,vertebrate_core	"embryonic structure that forms on the endodermal side between the pharyngeal arches, and pharyngeal grooves (or clefts) form the lateral ectodermal surface of the neck region to separate the arches. The pouches line up with the clefts, and these thin segments become gills in fish[WP]. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits[ZFA]." [Wikipedia:Pharyngeal_pouch_(embryology)]	UBERON:0007127	"Along with the fourth pouch, contributes to the formation of the musculature and cartilage of the larynx[WP]." [Wikipedia:Pharyngeal_pouch_(embryology)#Sixth_pouch]	225404	efo_slim,vertebrate_core	efo_slim,vertebrate_core	uberon	1	EFO	pharyngeal pouch	pharyngeal pouch 6
UBERON:0002050	UBERON:0004117	efo_slim,vertebrate_core	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0007127	"Along with the fourth pouch, contributes to the formation of the musculature and cartilage of the larynx[WP]." [Wikipedia:Pharyngeal_pouch_(embryology)#Sixth_pouch]	582186	efo_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	pharyngeal pouch 6
UBERON:0007135	\N	efo_slim	"An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section." [ZFIN:ZDB-PUB-961014-576]	UBERON:0007135	"An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section." [ZFIN:ZDB-PUB-961014-576]	80100	\N	efo_slim	uberon	0	EFO	neural keel	neural keel
EFO:0003331	\N	efo_slim	"" []	UBERON:0007135	"An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section." [ZFIN:ZDB-PUB-961014-576]	196291	\N	\N	uberon	0	EFO	zebrafish component	neural keel
UBERON:0007213	\N	efo_slim,vertebrate_core	"Mesenchyme that develops_from a cranial neural crest." [OBOL:automatic]	UBERON:0007213	"Mesenchyme that develops_from a cranial neural crest." [OBOL:automatic]	80101	\N	efo_slim,vertebrate_core	uberon	0	EFO	mesenchyme derived from head neural crest	mesenchyme derived from head neural crest
UBERON:0005253	UBERON:0007213	efo_slim,vertebrate_core	"Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells." [ISBN:0683400088, MP:0011260]	UBERON:0007213	"Mesenchyme that develops_from a cranial neural crest." [OBOL:automatic]	225405	efo_slim,vertebrate_core	efo_slim,vertebrate_core	uberon	1	EFO	head mesenchyme	mesenchyme derived from head neural crest
UBERON:0007277	\N	efo_slim	"The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, \\"rhombencephalosynapsis\\" is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure." [Wikipedia:Rhombencephalon]	UBERON:0007277	"The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, \\"rhombencephalosynapsis\\" is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure." [Wikipedia:Rhombencephalon]	80103	\N	efo_slim	uberon	0	EFO	presumptive hindbrain	presumptive hindbrain
EFO:0003332	\N	efo_slim	"" []	UBERON:0007277	"The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, \\"rhombencephalosynapsis\\" is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure." [Wikipedia:Rhombencephalon]	196292	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive hindbrain
UBERON:0007281	\N	efo_slim	"An embryonic midbrain hindbrain boundary that is part of a neurectoderm." [OBOL:automatic]	UBERON:0007281	"An embryonic midbrain hindbrain boundary that is part of a neurectoderm." [OBOL:automatic]	80104	\N	efo_slim	uberon	0	EFO	presumptive midbrain hindbrain boundary	presumptive midbrain hindbrain boundary
EFO:0003332	\N	efo_slim	"" []	UBERON:0007281	"An embryonic midbrain hindbrain boundary that is part of a neurectoderm." [OBOL:automatic]	196293	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive midbrain hindbrain boundary
UBERON:0007282	\N	efo_slim	"A presumptive structure that develops_into a presomitic mesoderm." [OBOL:automatic]	UBERON:0007282	"A presumptive structure that develops_into a presomitic mesoderm." [OBOL:automatic]	80105	\N	efo_slim	uberon	0	EFO	presumptive segmental plate	presumptive segmental plate
EFO:0003332	\N	efo_slim	"" []	UBERON:0007282	"A presumptive structure that develops_into a presomitic mesoderm." [OBOL:automatic]	196294	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive segmental plate
UBERON:0007283	\N	efo_slim	"" []	UBERON:0007283	"" []	80106	\N	efo_slim	uberon	0	EFO	presumptive shield	presumptive shield
EFO:0003332	\N	efo_slim	"" []	UBERON:0007283	"" []	196295	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive shield
UBERON:0007284	\N	efo_slim	"A presumptive structure that develops_into a neural plate." [OBOL:automatic]	UBERON:0007284	"A presumptive structure that develops_into a neural plate." [OBOL:automatic]	80107	\N	efo_slim	uberon	0	EFO	presumptive neural plate	presumptive neural plate
EFO:0003332	\N	efo_slim	"" []	UBERON:0007284	"A presumptive structure that develops_into a neural plate." [OBOL:automatic]	196296	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive neural plate
UBERON:0007285	\N	efo_slim	"A presumptive structure that develops_into a paraxial mesoderm." [OBOL:automatic]	UBERON:0007285	"A presumptive structure that develops_into a paraxial mesoderm." [OBOL:automatic]	80108	\N	efo_slim	uberon	0	EFO	presumptive paraxial mesoderm	presumptive paraxial mesoderm
EFO:0003332	\N	efo_slim	"" []	UBERON:0007285	"A presumptive structure that develops_into a paraxial mesoderm." [OBOL:automatic]	196297	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive paraxial mesoderm
UBERON:0007286	\N	efo_slim	"A presumptive structure that develops_into a floor plate." [OBOL:automatic]	UBERON:0007286	"A presumptive structure that develops_into a floor plate." [OBOL:automatic]	80109	\N	efo_slim	uberon	0	EFO	presumptive floor plate	presumptive floor plate
EFO:0003332	\N	efo_slim	"" []	UBERON:0007286	"A presumptive structure that develops_into a floor plate." [OBOL:automatic]	196298	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive floor plate
UBERON:0007288	\N	efo_slim	"A presumptive structure that develops_into a forebrain-midbrain boundary." [OBOL:automatic]	UBERON:0007288	"A presumptive structure that develops_into a forebrain-midbrain boundary." [OBOL:automatic]	80110	\N	efo_slim	uberon	0	EFO	presumptive forebrain midbrain boundary	presumptive forebrain midbrain boundary
EFO:0003332	\N	efo_slim	"" []	UBERON:0007288	"A presumptive structure that develops_into a forebrain-midbrain boundary." [OBOL:automatic]	196299	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive forebrain midbrain boundary
UBERON:0007290	\N	efo_slim	"A presumptive structure that develops_into a rhombomere 3." [OBOL:automatic]	UBERON:0007290	"A presumptive structure that develops_into a rhombomere 3." [OBOL:automatic]	80111	\N	efo_slim	uberon	0	EFO	presumptive rhombomere 3	presumptive rhombomere 3
EFO:0003332	\N	efo_slim	"" []	UBERON:0007290	"A presumptive structure that develops_into a rhombomere 3." [OBOL:automatic]	196300	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive rhombomere 3
UBERON:0007291	\N	efo_slim	"A presumptive structure that develops_into a rhombomere 4." [OBOL:automatic]	UBERON:0007291	"A presumptive structure that develops_into a rhombomere 4." [OBOL:automatic]	80112	\N	efo_slim	uberon	0	EFO	presumptive rhombomere 4	presumptive rhombomere 4
EFO:0003332	\N	efo_slim	"" []	UBERON:0007291	"A presumptive structure that develops_into a rhombomere 4." [OBOL:automatic]	196301	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive rhombomere 4
UBERON:0007292	\N	efo_slim	"A presumptive structure that develops_into a rhombomere 5." [OBOL:automatic]	UBERON:0007292	"A presumptive structure that develops_into a rhombomere 5." [OBOL:automatic]	80113	\N	efo_slim	uberon	0	EFO	presumptive rhombomere 5	presumptive rhombomere 5
EFO:0003332	\N	efo_slim	"" []	UBERON:0007292	"A presumptive structure that develops_into a rhombomere 5." [OBOL:automatic]	196302	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive rhombomere 5
UBERON:0007293	\N	efo_slim	"A presumptive structure that develops_into a rhombomere 6." [OBOL:automatic]	UBERON:0007293	"A presumptive structure that develops_into a rhombomere 6." [OBOL:automatic]	80114	\N	efo_slim	uberon	0	EFO	presumptive rhombomere 6	presumptive rhombomere 6
EFO:0003332	\N	efo_slim	"" []	UBERON:0007293	"A presumptive structure that develops_into a rhombomere 6." [OBOL:automatic]	196303	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive rhombomere 6
UBERON:0007294	\N	efo_slim	"A presumptive structure that develops_into a rhombomere 7." [OBOL:automatic]	UBERON:0007294	"A presumptive structure that develops_into a rhombomere 7." [OBOL:automatic]	80115	\N	efo_slim	uberon	0	EFO	presumptive rhombomere 7	presumptive rhombomere 7
EFO:0003332	\N	efo_slim	"" []	UBERON:0007294	"A presumptive structure that develops_into a rhombomere 7." [OBOL:automatic]	196304	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive rhombomere 7
UBERON:0007295	\N	efo_slim	"A presumptive structure that develops_into a rhombomere 8." [OBOL:automatic]	UBERON:0007295	"A presumptive structure that develops_into a rhombomere 8." [OBOL:automatic]	80116	\N	efo_slim	uberon	0	EFO	presumptive rhombomere 8	presumptive rhombomere 8
EFO:0003332	\N	efo_slim	"" []	UBERON:0007295	"A presumptive structure that develops_into a rhombomere 8." [OBOL:automatic]	196305	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive rhombomere 8
UBERON:0007297	\N	efo_slim	"A presumptive structure that develops_into a pronephric mesoderm." [OBOL:automatic]	UBERON:0007297	"A presumptive structure that develops_into a pronephric mesoderm." [OBOL:automatic]	80117	\N	efo_slim	uberon	0	EFO	presumptive pronephric mesoderm	presumptive pronephric mesoderm
EFO:0003331	\N	efo_slim	"" []	UBERON:0007297	"A presumptive structure that develops_into a pronephric mesoderm." [OBOL:automatic]	196306	\N	\N	uberon	0	EFO	zebrafish component	presumptive pronephric mesoderm
UBERON:0007610	\N	\N	"The anterior and posterior arteries created at the bifurcation of the popliteal artery. The anterior tibial artery begins at the lower border of the popliteus muscle and lies along the tibia at the distal part of the leg to surface superficially anterior to the ankle joint. Its branches are distributed throughout the leg, ankle, and pes. The posterior tibial artery begins at the lower border of the popliteus muscle, lies behind the tibia in the lower part of its course, and is found situated between the medial malleolus and the medial process of the calcaneal tuberosity. Its branches are distributed throughout the leg and foot." []	UBERON:0007610	"The anterior and posterior arteries created at the bifurcation of the popliteal artery. The anterior tibial artery begins at the lower border of the popliteus muscle and lies along the tibia at the distal part of the leg to surface superficially anterior to the ankle joint. Its branches are distributed throughout the leg, ankle, and pes. The posterior tibial artery begins at the lower border of the popliteus muscle, lies behind the tibia in the lower part of its course, and is found situated between the medial malleolus and the medial process of the calcaneal tuberosity. Its branches are distributed throughout the leg and foot." []	80119	\N	\N	uberon	0	EFO	tibial artery	tibial artery
UBERON:0001637	UBERON:0007610	\N	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:0007610	"The anterior and posterior arteries created at the bifurcation of the popliteal artery. The anterior tibial artery begins at the lower border of the popliteus muscle and lies along the tibia at the distal part of the leg to surface superficially anterior to the ankle joint. Its branches are distributed throughout the leg, ankle, and pes. The posterior tibial artery begins at the lower border of the popliteus muscle, lies behind the tibia in the lower part of its course, and is found situated between the medial malleolus and the medial process of the calcaneal tuberosity. Its branches are distributed throughout the leg and foot." []	225406	\N	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	tibial artery
UBERON:0001981	UBERON:0001637	\N	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:0007610	"The anterior and posterior arteries created at the bifurcation of the popliteal artery. The anterior tibial artery begins at the lower border of the popliteus muscle and lies along the tibia at the distal part of the leg to surface superficially anterior to the ankle joint. Its branches are distributed throughout the leg, ankle, and pes. The posterior tibial artery begins at the lower border of the popliteus muscle, lies behind the tibia in the lower part of its course, and is found situated between the medial malleolus and the medial process of the calcaneal tuberosity. Its branches are distributed throughout the leg and foot." []	582187	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	tibial artery
UBERON:0007683	\N	efo_slim	"" []	UBERON:0007683	"" []	80121	\N	efo_slim	uberon	0	EFO	lateral mesenchyme derived from mesoderm	lateral mesenchyme derived from mesoderm
UBERON:0005256	UBERON:0007683	efo_slim	"Mesenchyme that is part of a trunk." [OBOL:automatic]	UBERON:0007683	"" []	225407	efo_slim	efo_slim,vertebrate_core	uberon	1	EFO	trunk mesenchyme	lateral mesenchyme derived from mesoderm
UBERON:0007688	\N	efo_slim	"Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue." [FBbt:00005426, JB:DEF, Wikipedia:Anlage_(biology)]	UBERON:0007688	"Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue." [FBbt:00005426, JB:DEF, Wikipedia:Anlage_(biology)]	80122	\N	efo_slim	uberon	0	EFO	anlage	anlage
EFO:0000787	\N	efo_slim	"" []	UBERON:0007688	"Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue." [FBbt:00005426, JB:DEF, Wikipedia:Anlage_(biology)]	196308	\N	\N	uberon	0	EFO	animal component	anlage
EFO:0001647	\N	efo_slim	"A tissue modifier is an anatomical modifier which describes some quality about a tissue." []	UBERON:0007688	"Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue." [FBbt:00005426, JB:DEF, Wikipedia:Anlage_(biology)]	196309	\N	\N	uberon	0	EFO	tissue modifier	anlage
UBERON:0007795	\N	\N	"\\nThe serous fluid which accumulates in the peritoneal cavity in ascites.\\n" []	UBERON:0007795	"\\nThe serous fluid which accumulates in the peritoneal cavity in ascites.\\n" []	80123	\N	\N	uberon	0	EFO	ascitic fluid	ascitic fluid
UBERON:0006314	\N	\N	"Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. " []	UBERON:0007795	"\\nThe serous fluid which accumulates in the peritoneal cavity in ascites.\\n" []	196310	\N	\N	uberon	0	EFO	bodily fluid	ascitic fluid
UBERON:0007808	\N	efo_slim	"Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots." [CALOHA:paula, http://purl.obolibrary.org/obo/uberon/tracker/259, MGI:csmith, UBERON:cjm]	UBERON:0007808	"Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots." [CALOHA:paula, http://purl.obolibrary.org/obo/uberon/tracker/259, MGI:csmith, UBERON:cjm]	80124	\N	efo_slim	uberon	0	EFO	adipose tissue of abdominal region	adipose tissue of abdominal region
UBERON:0001013	UBERON:0007808	efo_slim	"Connective tissue composed of adipocytes." [Wikipedia:Adipose_tissue]	UBERON:0007808	"Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots." [CALOHA:paula, http://purl.obolibrary.org/obo/uberon/tracker/259, MGI:csmith, UBERON:cjm]	225408	efo_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	adipose tissue	adipose tissue of abdominal region
UBERON:0008896	\N	efo_slim	"A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher." [https://orcid.org/0000-0002-6601-2165]	UBERON:0008896	"A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher." [https://orcid.org/0000-0002-6601-2165]	80126	\N	efo_slim	uberon	0	EFO	post-hyoid pharyngeal arch	post-hyoid pharyngeal arch
EFO:0003331	\N	efo_slim	"" []	UBERON:0008896	"A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher." [https://orcid.org/0000-0002-6601-2165]	196311	\N	\N	uberon	0	EFO	zebrafish component	post-hyoid pharyngeal arch
UBERON:0008904	\N	efo_slim	"Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" [ZFIN:ZDB-PUB-961014-576]	UBERON:0008904	"Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" [ZFIN:ZDB-PUB-961014-576]	80128	\N	efo_slim	uberon	0	EFO	neuromast	neuromast
EFO:0003331	\N	efo_slim	"" []	UBERON:0008904	"Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" [ZFIN:ZDB-PUB-961014-576]	196313	\N	\N	uberon	0	EFO	zebrafish component	neuromast
UBERON:0008930	\N	efo_slim	"Area of the parietal lobe concerned with receiving general sensations. It lies posterior to the central sulcus." [MESH:A08.186.211.730.885.213.670.675]	UBERON:0008930	"Area of the parietal lobe concerned with receiving general sensations. It lies posterior to the central sulcus." [MESH:A08.186.211.730.885.213.670.675]	80129	\N	efo_slim	uberon	0	EFO	somatosensory cortex	somatosensory cortex
EFO:0000787	\N	efo_slim	"" []	UBERON:0008930	"Area of the parietal lobe concerned with receiving general sensations. It lies posterior to the central sulcus." [MESH:A08.186.211.730.885.213.670.675]	196314	\N	\N	uberon	0	EFO	animal component	somatosensory cortex
UBERON:0009120	\N	efo_slim	"Portion of tissue that projects outward from the gill and is a thread-like, soft, red respiratory and excretory structure." [http:www.briancoad.com/Dictionary/G.htm, ZFIN:ZDB-PUB-961014-576]	UBERON:0009120	"Portion of tissue that projects outward from the gill and is a thread-like, soft, red respiratory and excretory structure." [http:www.briancoad.com/Dictionary/G.htm, ZFIN:ZDB-PUB-961014-576]	80130	\N	efo_slim	uberon	0	EFO	gill filament	gill filament
EFO:0003331	\N	efo_slim	"" []	UBERON:0009120	"Portion of tissue that projects outward from the gill and is a thread-like, soft, red respiratory and excretory structure." [http:www.briancoad.com/Dictionary/G.htm, ZFIN:ZDB-PUB-961014-576]	196315	\N	\N	uberon	0	EFO	zebrafish component	gill filament
UBERON:0009122	\N	efo_slim	"The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary" [http://www.ncbi.nlm.nih.gov/books/NBK53175/]	UBERON:0009122	"The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary" [http://www.ncbi.nlm.nih.gov/books/NBK53175/]	80131	\N	efo_slim	uberon	0	EFO	adenohypophyseal placode	adenohypophyseal placode
UBERON:0001048	UBERON:0009122	efo_slim	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	UBERON:0009122	"The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary" [http://www.ncbi.nlm.nih.gov/books/NBK53175/]	225409	efo_slim	efo_slim,uberon_slim	uberon	1	EFO	primordium	adenohypophyseal placode
UBERON:0009472	\N	efo_slim	"The axilla is the area on the human body directly under the joint where the arm connects to the shoulder." [Wikipedia:Axilla]	UBERON:0009472	"The axilla is the area on the human body directly under the joint where the arm connects to the shoulder." [Wikipedia:Axilla]	80132	\N	efo_slim	uberon	0	EFO	axilla	axilla
EFO:0000787	\N	efo_slim	"" []	UBERON:0009472	"The axilla is the area on the human body directly under the joint where the arm connects to the shoulder." [Wikipedia:Axilla]	196316	\N	\N	uberon	0	EFO	animal component	axilla
UBERON:0009582	\N	efo_slim	"" []	UBERON:0009582	"" []	80133	\N	efo_slim	uberon	0	EFO	spinal cord lateral wall	spinal cord lateral wall
EFO:0003331	\N	efo_slim	"" []	UBERON:0009582	"" []	196317	\N	\N	uberon	0	EFO	zebrafish component	spinal cord lateral wall
UBERON:0002050	UBERON:0009582	efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0009582	"" []	225410	efo_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	spinal cord lateral wall
UBERON:0009616	\N	efo_slim	"A presumptive structure that develops_into a midbrain." [OBOL:automatic]	UBERON:0009616	"A presumptive structure that develops_into a midbrain." [OBOL:automatic]	80134	\N	efo_slim	uberon	0	EFO	presumptive midbrain	presumptive midbrain
EFO:0003332	\N	efo_slim	"" []	UBERON:0009616	"A presumptive structure that develops_into a midbrain." [OBOL:automatic]	196318	\N	\N	uberon	0	EFO	zebrafish embryonic structure	presumptive midbrain
UBERON:0009676	\N	efo_slim	"" []	UBERON:0009676	"" []	80135	\N	efo_slim	uberon	0	EFO	early telencephalic vesicle	early telencephalic vesicle
EFO:0000787	\N	efo_slim	"" []	UBERON:0009676	"" []	196319	\N	\N	uberon	0	EFO	animal component	early telencephalic vesicle
UBERON:0009881	\N	efo_slim	"" []	UBERON:0009881	"" []	80137	\N	efo_slim	uberon	0	EFO	anterior lateral plate mesoderm	anterior lateral plate mesoderm
EFO:0003331	\N	efo_slim	"" []	UBERON:0009881	"" []	196321	\N	\N	uberon	0	EFO	zebrafish component	anterior lateral plate mesoderm
UBERON:0002050	UBERON:0009881	efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0009881	"" []	225411	efo_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	anterior lateral plate mesoderm
UBERON:0009910	\N	efo_slim	"" []	UBERON:0009910	"" []	80138	\N	efo_slim	uberon	0	EFO	posterior lateral plate mesoderm	posterior lateral plate mesoderm
UBERON:0000926	UBERON:0009910	efo_slim	"The middle germ layer of the embryo, between the endoderm and ectoderm." [Wikipedia:Mesoderm]	UBERON:0009910	"" []	225412	efo_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	mesoderm	posterior lateral plate mesoderm
UBERON:0002050	UBERON:0000926	efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0009910	"" []	582188	efo_slim,uberon_slim,vertebrate_core	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	2	EFO	embryonic structure	posterior lateral plate mesoderm
UBERON:0009955	\N	efo_slim	"Cranial placode with neurogenic potential[cjm]. Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia[ZFA]. The neurogenic placodes give rise to parts of various nerves and ganglia, the olfactory organ, parietal eye, parts of the inner ear, and the lateral line. There are 2 major series of neurogenic placodes, the dorsolateral and ventrolateral or epibranchial[PMID]" [PMID:11523831, Wikipedia:Neurogenic_placodes, ZFA:0001309]	UBERON:0009955	"Cranial placode with neurogenic potential[cjm]. Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia[ZFA]. The neurogenic placodes give rise to parts of various nerves and ganglia, the olfactory organ, parietal eye, parts of the inner ear, and the lateral line. There are 2 major series of neurogenic placodes, the dorsolateral and ventrolateral or epibranchial[PMID]" [PMID:11523831, Wikipedia:Neurogenic_placodes, ZFA:0001309]	80139	\N	efo_slim	uberon	0	EFO	neurogenic placode	neurogenic placode
EFO:0003332	\N	efo_slim	"" []	UBERON:0009955	"Cranial placode with neurogenic potential[cjm]. Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia[ZFA]. The neurogenic placodes give rise to parts of various nerves and ganglia, the olfactory organ, parietal eye, parts of the inner ear, and the lateral line. There are 2 major series of neurogenic placodes, the dorsolateral and ventrolateral or epibranchial[PMID]" [PMID:11523831, Wikipedia:Neurogenic_placodes, ZFA:0001309]	196322	\N	\N	uberon	0	EFO	zebrafish embryonic structure	neurogenic placode
UBERON:0001048	UBERON:0009955	efo_slim	"Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ." [BTO:0001886, FB:DJS, FB:FBrf0089570, FB:FBrf0178740, Wikipedia:Primordium]	UBERON:0009955	"Cranial placode with neurogenic potential[cjm]. Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia[ZFA]. The neurogenic placodes give rise to parts of various nerves and ganglia, the olfactory organ, parietal eye, parts of the inner ear, and the lateral line. There are 2 major series of neurogenic placodes, the dorsolateral and ventrolateral or epibranchial[PMID]" [PMID:11523831, Wikipedia:Neurogenic_placodes, ZFA:0001309]	225413	efo_slim	efo_slim,uberon_slim	uberon	1	EFO	primordium	neurogenic placode
UBERON:0009970	\N	efo_slim	"An epithelium that is part of a pancreatic duct." [OBOL:automatic]	UBERON:0009970	"An epithelium that is part of a pancreatic duct." [OBOL:automatic]	80140	\N	efo_slim	uberon	0	EFO	epithelium of pancreatic duct	epithelium of pancreatic duct
UBERON:0000483	\N	efo_slim	"Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. [http://en.wikipedia.org/wiki/Epithelium http://orcid.org/0000-0001-9114-8737 ]" []	UBERON:0009970	"An epithelium that is part of a pancreatic duct." [OBOL:automatic]	196323	\N	\N	uberon	0	EFO	epithelium	epithelium of pancreatic duct
UBERON:6007435	\N	efo_slim	"An endocrine system component is a defined classt to caputre the partonomy of the endocrine system." []	UBERON:0009970	"An epithelium that is part of a pancreatic duct." [OBOL:automatic]	196324	\N	\N	uberon	0	EFO	endocrine system component	epithelium of pancreatic duct
UBERON:0010230	\N	pheno_slim	"" []	UBERON:0010230	"" []	80142	\N	pheno_slim	uberon	0	EFO	eyeball of camera-type eye	eyeball of camera-type eye
UBERON:0000970	UBERON:0010230	pheno_slim	"An organ that detects light." [https://orcid.org/0000-0002-6601-2165]	UBERON:0010230	"" []	225414	pheno_slim	efo_slim,functional_classification,major_organ,organ_slim,uberon_slim	uberon	1	EFO	eye	eyeball of camera-type eye
UBERON:0010285	\N	efo_slim	"Portion of tissue that is dorsolateral to the floor plate and part of the midbrain." [ZFA:0000761]	UBERON:0010285	"Portion of tissue that is dorsolateral to the floor plate and part of the midbrain." [ZFA:0000761]	80143	\N	efo_slim	uberon	0	EFO	midbrain basal plate	midbrain basal plate
EFO:0003331	\N	efo_slim	"" []	UBERON:0010285	"Portion of tissue that is dorsolateral to the floor plate and part of the midbrain." [ZFA:0000761]	196326	\N	\N	uberon	0	EFO	zebrafish component	midbrain basal plate
UBERON:0002050	UBERON:0010285	efo_slim	"Anatomical structure that is part of an embryo." [BTO:0000174, ZFIN:curator]	UBERON:0010285	"Portion of tissue that is dorsolateral to the floor plate and part of the midbrain." [ZFA:0000761]	225415	efo_slim	efo_slim,inconsistent_with_fma,vertebrate_core	uberon	1	EFO	embryonic structure	midbrain basal plate
UBERON:0010302	\N	efo_slim	"a single extraembryonic epithelium, which closes the germband dorsally." [doi:10.1073/pnas.0709145105]	UBERON:0010302	"a single extraembryonic epithelium, which closes the germband dorsally." [doi:10.1073/pnas.0709145105]	80144	\N	efo_slim	uberon	0	EFO	amnioserosa	amnioserosa
EFO:0000787	\N	efo_slim	"" []	UBERON:0010302	"a single extraembryonic epithelium, which closes the germband dorsally." [doi:10.1073/pnas.0709145105]	196327	\N	\N	uberon	0	EFO	animal component	amnioserosa
UBERON:0010710	\N	efo_slim	"Paired fin skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid." [TAO:wd]	UBERON:0010710	"Paired fin skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid." [TAO:wd]	80145	\N	efo_slim	uberon	0	EFO	pectoral fin skeleton	pectoral fin skeleton
EFO:0003331	\N	efo_slim	"" []	UBERON:0010710	"Paired fin skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid." [TAO:wd]	196328	\N	\N	uberon	0	EFO	zebrafish component	pectoral fin skeleton
EFO:0003858	\N	efo_slim	"" []	UBERON:0010710	"Paired fin skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid." [TAO:wd]	196329	\N	\N	uberon	0	EFO	skeleton structure	pectoral fin skeleton
UBERON:0011004	\N	efo_slim	"A cartilage element that is part of a splanchnocranium." [OBOL:automatic]	UBERON:0011004	"A cartilage element that is part of a splanchnocranium." [OBOL:automatic]	80147	\N	efo_slim	uberon	0	EFO	pharyngeal arch cartilage	pharyngeal arch cartilage
EFO:0003858	\N	efo_slim	"" []	UBERON:0011004	"A cartilage element that is part of a splanchnocranium." [OBOL:automatic]	196331	\N	\N	uberon	0	EFO	skeleton structure	pharyngeal arch cartilage
UBERON:0011085	\N	efo_slim	"The dorsal portion of the first pharyngeal arch, comprising the upper jaw[ZFIN,VHOG]." [http://purl.obolibrary.org/obo/uberon/tracker/153, VHOG:0000511]	UBERON:0011085	"The dorsal portion of the first pharyngeal arch, comprising the upper jaw[ZFIN,VHOG]." [http://purl.obolibrary.org/obo/uberon/tracker/153, VHOG:0000511]	80148	\N	efo_slim	uberon	0	EFO	palatoquadrate arch	palatoquadrate arch
EFO:0003331	\N	efo_slim	"" []	UBERON:0011085	"The dorsal portion of the first pharyngeal arch, comprising the upper jaw[ZFIN,VHOG]." [http://purl.obolibrary.org/obo/uberon/tracker/153, VHOG:0000511]	196332	\N	\N	uberon	0	EFO	zebrafish component	palatoquadrate arch
EFO:0003858	\N	efo_slim	"" []	UBERON:0011085	"The dorsal portion of the first pharyngeal arch, comprising the upper jaw[ZFIN,VHOG]." [http://purl.obolibrary.org/obo/uberon/tracker/153, VHOG:0000511]	196333	\N	\N	uberon	0	EFO	skeleton structure	palatoquadrate arch
UBERON:0011146	\N	\N	"\\nAny of the glands in silk-spinning insects and spiders that secrete a protein liquid that hardens into silk on exposure to air.\\n" []	UBERON:0011146	"\\nAny of the glands in silk-spinning insects and spiders that secrete a protein liquid that hardens into silk on exposure to air.\\n" []	80149	\N	\N	uberon	0	EFO	silk gland	silk gland
EFO:0000787	\N	\N	"" []	UBERON:0011146	"\\nAny of the glands in silk-spinning insects and spiders that secrete a protein liquid that hardens into silk on exposure to air.\\n" []	196334	\N	\N	uberon	0	EFO	animal component	silk gland
UBERON:0011150	\N	efo_slim,uberon_slim	"" []	UBERON:0011150	"" []	80150	\N	efo_slim,uberon_slim	uberon	0	EFO	pharyngeal arch derived gill	pharyngeal arch derived gill
EFO:0000787	\N	efo_slim,uberon_slim	"" []	UBERON:0011150	"" []	196335	\N	\N	uberon	0	EFO	animal component	pharyngeal arch derived gill
UBERON:0011242	\N	efo_slim	"Region between capsules formed by anterior tips of neurocranial trabeculae." [ISBN10:0073040584]	UBERON:0011242	"Region between capsules formed by anterior tips of neurocranial trabeculae." [ISBN10:0073040584]	80152	\N	efo_slim	uberon	0	EFO	ethmoid cartilage	ethmoid cartilage
UBERON:0003932	UBERON:0011242	efo_slim	"A cartilage element of chondrocranium. Example: neurocranial trabecula." [https://orcid.org/0000-0002-6601-2165]	UBERON:0011242	"Region between capsules formed by anterior tips of neurocranial trabeculae." [ISBN10:0073040584]	225416	efo_slim	efo_slim	uberon	1	EFO	cartilage element of chondrocranium	ethmoid cartilage
UBERON:0011607	\N	efo_slim	"Cartilage form of the hyomandibular element." [https://orcid.org/0000-0002-6601-2165]	UBERON:0011607	"Cartilage form of the hyomandibular element." [https://orcid.org/0000-0002-6601-2165]	80154	\N	efo_slim	uberon	0	EFO	hyomandibular cartilage	hyomandibular cartilage
EFO:0003331	\N	efo_slim	"" []	UBERON:0011607	"Cartilage form of the hyomandibular element." [https://orcid.org/0000-0002-6601-2165]	196337	\N	\N	uberon	0	EFO	zebrafish component	hyomandibular cartilage
UBERON:0011004	UBERON:0011607	efo_slim	"A cartilage element that is part of a splanchnocranium." [OBOL:automatic]	UBERON:0011607	"Cartilage form of the hyomandibular element." [https://orcid.org/0000-0002-6601-2165]	225417	efo_slim	efo_slim	uberon	1	EFO	pharyngeal arch cartilage	hyomandibular cartilage
UBERON:0011683	\N	efo_slim	"An adductor muscle that acts on the jaw. In some species, this is subdivided into segments based on attachment." [UBERON:cjm]	UBERON:0011683	"An adductor muscle that acts on the jaw. In some species, this is subdivided into segments based on attachment." [UBERON:cjm]	80157	\N	efo_slim	uberon	0	EFO	adductor mandibulae	adductor mandibulae
EFO:0000795	\N	efo_slim	"Embryonic structure (body structure)" []	UBERON:0011683	"An adductor muscle that acts on the jaw. In some species, this is subdivided into segments based on attachment." [UBERON:cjm]	196338	\N	\N	uberon	0	EFO	animal developmental tissue	adductor mandibulae
UBERON:0002376	UBERON:0011683	efo_slim	"Any muscle that is part of a head[Automatically generated definition]." [OBOL:automatic]	UBERON:0011683	"An adductor muscle that acts on the jaw. In some species, this is subdivided into segments based on attachment." [UBERON:cjm]	225418	efo_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	muscle of head	adductor mandibulae
UBERON:0011905	\N	efo_slim	"Plantaris is a vestigial structure and one of the superficial muscles of the posterior crural compartment of the leg. It is innervated by the tibial nerve (S1, S2) . It is composed of a thin muscle belly and a long thin tendon. It is approximately 2-4 inches long, and is absent in 7 - 10% of the human population. It is one of the plantar flexors in the superior compartment of the leg along with the gastrocnemius, and soleus. The plantaris is considered an unimportant muscle, it mainly acts with gastrocnemius[WP]." [Wikipedia:Plantaris_muscle]	UBERON:0011905	"Plantaris is a vestigial structure and one of the superficial muscles of the posterior crural compartment of the leg. It is innervated by the tibial nerve (S1, S2) . It is composed of a thin muscle belly and a long thin tendon. It is approximately 2-4 inches long, and is absent in 7 - 10% of the human population. It is one of the plantar flexors in the superior compartment of the leg along with the gastrocnemius, and soleus. The plantaris is considered an unimportant muscle, it mainly acts with gastrocnemius[WP]." [Wikipedia:Plantaris_muscle]	80158	\N	efo_slim	uberon	0	EFO	plantaris	plantaris
UBERON:0003663	UBERON:0011905	efo_slim	"A muscle organ that is part of a hindlimb [Automatically generated definition]." [OBOL:automatic]	UBERON:0011905	"Plantaris is a vestigial structure and one of the superficial muscles of the posterior crural compartment of the leg. It is innervated by the tibial nerve (S1, S2) . It is composed of a thin muscle belly and a long thin tendon. It is approximately 2-4 inches long, and is absent in 7 - 10% of the human population. It is one of the plantar flexors in the superior compartment of the leg along with the gastrocnemius, and soleus. The plantaris is considered an unimportant muscle, it mainly acts with gastrocnemius[WP]." [Wikipedia:Plantaris_muscle]	225419	efo_slim	efo_slim	uberon	1	EFO	hindlimb muscle	plantaris
UBERON:0012168	\N	efo_slim	"blood that remains in the placenta and in the attached umbilical cord after childbirth[WP]." [Wikipedia:Cord_blood]	UBERON:0012168	"blood that remains in the placenta and in the attached umbilical cord after childbirth[WP]." [Wikipedia:Cord_blood]	80159	\N	efo_slim	uberon	0	EFO	umbilical cord blood	umbilical cord blood
EFO:0000787	\N	efo_slim	"" []	UBERON:0012168	"blood that remains in the placenta and in the attached umbilical cord after childbirth[WP]." [Wikipedia:Cord_blood]	196339	\N	\N	uberon	0	EFO	animal component	umbilical cord blood
UBERON:0012170	\N	efo_slim	"" []	UBERON:0012170	"" []	80160	\N	efo_slim	uberon	0	EFO	core of nucleus accumbens	core of nucleus accumbens
UBERON:0001882	UBERON:0012170	efo_slim	"a collection of pleomorphic cells in the caudal part of the anterior horn of the lateral ventricle, in the region of the olfactory tubercle, lying between the head of the caudate nucleus and the anterior perforated substance. It is part of the ventral striatum, a composite structure considered part of the basal ganglia[GO]." [GO:0021768, Wikipedia:Nucleus_accumbens]	UBERON:0012170	"" []	225420	efo_slim	efo_slim,uberon_slim	uberon	1	EFO	nucleus accumbens	core of nucleus accumbens
UBERON:0012171	\N	efo_slim	"Crescent shaped outer zone of the nucleus accumbens, defined by a combination of chemoarchitecture and afferent and efferent connections. The shell is distinguished from the more centrally located core through the notable reduction in staining for the calcium-binding protein calbindin D28K, which is dense in the core and virtually absent in the shell." [NIF_GrossAnatomy:nlx_anat_20090307]	UBERON:0012171	"Crescent shaped outer zone of the nucleus accumbens, defined by a combination of chemoarchitecture and afferent and efferent connections. The shell is distinguished from the more centrally located core through the notable reduction in staining for the calcium-binding protein calbindin D28K, which is dense in the core and virtually absent in the shell." [NIF_GrossAnatomy:nlx_anat_20090307]	80161	\N	efo_slim	uberon	0	EFO	shell of nucleus accumbens	shell of nucleus accumbens
UBERON:0001882	UBERON:0012171	efo_slim	"a collection of pleomorphic cells in the caudal part of the anterior horn of the lateral ventricle, in the region of the olfactory tubercle, lying between the head of the caudate nucleus and the anterior perforated substance. It is part of the ventral striatum, a composite structure considered part of the basal ganglia[GO]." [GO:0021768, Wikipedia:Nucleus_accumbens]	UBERON:0012171	"Crescent shaped outer zone of the nucleus accumbens, defined by a combination of chemoarchitecture and afferent and efferent connections. The shell is distinguished from the more centrally located core through the notable reduction in staining for the calcium-binding protein calbindin D28K, which is dense in the core and virtually absent in the shell." [NIF_GrossAnatomy:nlx_anat_20090307]	225421	efo_slim	efo_slim,uberon_slim	uberon	1	EFO	nucleus accumbens	shell of nucleus accumbens
UBERON:0012249	\N	\N	"The part of the cervix uteri that protrudes into the vagina and is lined with stratified squamous epithelium." []	UBERON:0012249	"The part of the cervix uteri that protrudes into the vagina and is lined with stratified squamous epithelium." []	80162	\N	\N	uberon	0	EFO	ectocervix	ectocervix
UBERON:0000002	UBERON:0012249	\N	"Lower, narrow portion of the uterus where it joins with the top end of the vagina." [UBERON:cjm, Wikipedia:Cervix]	UBERON:0012249	"The part of the cervix uteri that protrudes into the vagina and is lined with stratified squamous epithelium." []	225422	\N	efo_slim,uberon_slim	uberon	1	EFO	uterine cervix	ectocervix
UBERON:0012652	\N	\N	"The subdivision of the digestive tract that consists of the colon and the rectum. [ http://orcid.org/0000-0002-6601-2165 ]" []	UBERON:0012652	"The subdivision of the digestive tract that consists of the colon and the rectum. [ http://orcid.org/0000-0002-6601-2165 ]" []	80163	\N	\N	uberon	0	EFO	colorectum	colorectum
UBERON:0001007	UBERON:0012652	\N	"Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes." [FB:gg, NLM:alimentary+system, Wikipedia:Digestive_system]	UBERON:0012652	"The subdivision of the digestive tract that consists of the colon and the rectum. [ http://orcid.org/0000-0002-6601-2165 ]" []	225423	\N	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	digestive system	colorectum
UBERON:0013702	\N	\N	"\\nThe region of the organism associated with the visceral organs.\\n" []	UBERON:0013702	"\\nThe region of the organism associated with the visceral organs.\\n" []	80166	\N	\N	uberon	0	EFO	body proper	body proper
EFO:0000787	\N	\N	"" []	UBERON:0013702	"\\nThe region of the organism associated with the visceral organs.\\n" []	196341	\N	\N	uberon	0	EFO	animal component	body proper
UBERON:0014454	\N	\N	"Subcutaneous adipose tissue that is located in the peritoneal cavity. " []	UBERON:0014454	"Subcutaneous adipose tissue that is located in the peritoneal cavity. " []	80169	\N	\N	uberon	0	EFO	visceral abdominal adipose tissue	visceral abdominal adipose tissue
UBERON:0007808	UBERON:0014454	\N	"Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots." [CALOHA:paula, http://purl.obolibrary.org/obo/uberon/tracker/259, MGI:csmith, UBERON:cjm]	UBERON:0014454	"Subcutaneous adipose tissue that is located in the peritoneal cavity. " []	225424	\N	efo_slim	uberon	1	EFO	adipose tissue of abdominal region	visceral abdominal adipose tissue
UBERON:0001013	UBERON:0007808	\N	"Connective tissue composed of adipocytes." [Wikipedia:Adipose_tissue]	UBERON:0014454	"Subcutaneous adipose tissue that is located in the peritoneal cavity. " []	582189	efo_slim	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	adipose tissue	visceral abdominal adipose tissue
UBERON:0015423	\N	\N	"The segment of either hepatic duct located in the hilum of the liver. [ ncithesaurus:Hilar_Portion_of_the_Hepatic_Duct ]" []	UBERON:0015423	"The segment of either hepatic duct located in the hilum of the liver. [ ncithesaurus:Hilar_Portion_of_the_Hepatic_Duct ]" []	80174	\N	\N	uberon	0	EFO	hilar portion of hepatic duct	hilar portion of hepatic duct
UBERON:0002394	\N	\N	"Duct that carries bile from the liver to the small intestine" []	UBERON:0015423	"The segment of either hepatic duct located in the hilum of the liver. [ ncithesaurus:Hilar_Portion_of_the_Hepatic_Duct ]" []	196344	\N	efo_slim,uberon_slim	uberon	0	EFO	bile duct	hilar portion of hepatic duct
UBERON:2000648	\N	efo_slim	"Musculature that is part of the dorsal fin." [ZFA:0000648, ZFA:curator]	UBERON:2000648	"Musculature that is part of the dorsal fin." [ZFA:0000648, ZFA:curator]	80219	\N	efo_slim	uberon	0	EFO	dorsal fin musculature	dorsal fin musculature
EFO:0003331	\N	efo_slim	"" []	UBERON:2000648	"Musculature that is part of the dorsal fin." [ZFA:0000648, ZFA:curator]	196349	\N	\N	uberon	0	EFO	zebrafish component	dorsal fin musculature
UBERON:2000677	\N	efo_slim	"" []	UBERON:2000677	"" []	80222	\N	efo_slim	uberon	0	EFO	segmental intercostal artery	segmental intercostal artery
EFO:0003331	\N	efo_slim	"" []	UBERON:2000677	"" []	196350	\N	\N	uberon	0	EFO	zebrafish component	segmental intercostal artery
UBERON:0001637	UBERON:2000677	efo_slim	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:2000677	"" []	225425	efo_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	segmental intercostal artery
UBERON:0001981	UBERON:0001637	efo_slim	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:2000677	"" []	582190	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	segmental intercostal artery
UBERON:2000815	\N	efo_slim	"" []	UBERON:2000815	"" []	80232	\N	efo_slim	uberon	0	EFO	nucleus of medial longitudinal fasciculus of medulla	nucleus of medial longitudinal fasciculus of medulla
EFO:0003331	\N	efo_slim	"" []	UBERON:2000815	"" []	196351	\N	\N	uberon	0	EFO	zebrafish component	nucleus of medial longitudinal fasciculus of medulla
UBERON:2000939	\N	efo_slim	"Neuromast that is part of the middle lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)" [ZFIN:curator]	UBERON:2000939	"Neuromast that is part of the middle lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)" [ZFIN:curator]	80236	\N	efo_slim	uberon	0	EFO	middle lateral line neuromast	middle lateral line neuromast
UBERON:0008904	UBERON:2000939	efo_slim	"Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" [ZFIN:ZDB-PUB-961014-576]	UBERON:2000939	"Neuromast that is part of the middle lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)" [ZFIN:curator]	225426	efo_slim	efo_slim	uberon	1	EFO	neuromast	middle lateral line neuromast
UBERON:2001025	\N	efo_slim	"A neuromast that is part of the occipital lateral line." [ZFIN:curator]	UBERON:2001025	"A neuromast that is part of the occipital lateral line." [ZFIN:curator]	80239	\N	efo_slim	uberon	0	EFO	occipital lateral line neuromast	occipital lateral line neuromast
UBERON:0008904	UBERON:2001025	efo_slim	"Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" [ZFIN:ZDB-PUB-961014-576]	UBERON:2001025	"A neuromast that is part of the occipital lateral line." [ZFIN:curator]	225427	efo_slim	efo_slim	uberon	1	EFO	neuromast	occipital lateral line neuromast
UBERON:2001026	\N	efo_slim	"A neuromast that is part of the supraorbital lateral line." [ZFIN:curator]	UBERON:2001026	"A neuromast that is part of the supraorbital lateral line." [ZFIN:curator]	80240	\N	efo_slim	uberon	0	EFO	supraorbital lateral line neuromast	supraorbital lateral line neuromast
UBERON:0008904	UBERON:2001026	efo_slim	"Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)" [ZFIN:ZDB-PUB-961014-576]	UBERON:2001026	"A neuromast that is part of the supraorbital lateral line." [ZFIN:curator]	225428	efo_slim	efo_slim	uberon	1	EFO	neuromast	supraorbital lateral line neuromast
UBERON:2001062	\N	efo_slim	"precursor to mesencephalic artery" [UBERON:cjm]	UBERON:2001062	"precursor to mesencephalic artery" [UBERON:cjm]	80245	\N	efo_slim	uberon	0	EFO	primitive mesencephalic artery	primitive mesencephalic artery
EFO:0003331	\N	efo_slim	"" []	UBERON:2001062	"precursor to mesencephalic artery" [UBERON:cjm]	196352	\N	\N	uberon	0	EFO	zebrafish component	primitive mesencephalic artery
UBERON:0001637	UBERON:2001062	efo_slim	"An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]." [AEO:JB]	UBERON:2001062	"precursor to mesencephalic artery" [UBERON:cjm]	225429	efo_slim	efo_slim,uberon_slim,vertebrate_core	uberon	1	EFO	artery	primitive mesencephalic artery
UBERON:0001981	UBERON:0001637	efo_slim	"A vessel through which blood circulates in the body." [BTO:0001102, Wikipedia:Blood_vessel]	UBERON:2001062	"precursor to mesencephalic artery" [UBERON:cjm]	582191	efo_slim,uberon_slim,vertebrate_core	efo_slim,uberon_slim,vertebrate_core	uberon	2	EFO	blood vessel	primitive mesencephalic artery
UBERON:2001312	\N	efo_slim	"" []	UBERON:2001312	"" []	80274	\N	efo_slim	uberon/phenoscape-anatomy	0	EFO	dorsal anterior lateral line ganglion	dorsal anterior lateral line ganglion
EFO:0003331	\N	efo_slim	"" []	UBERON:2001312	"" []	196353	\N	\N	uberon/phenoscape-anatomy	0	EFO	zebrafish component	dorsal anterior lateral line ganglion
UBERON:0001714	\N	efo_slim	"Ganglion of a cranial nerve[cjm]." [Wikipedia:Cranial_nerve_ganglion]	UBERON:2001312	"" []	196354	\N	efo_slim,uberon_slim,vertebrate_core	uberon/phenoscape-anatomy	0	EFO	cranial ganglion	dorsal anterior lateral line ganglion
